Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_Position	End_Position	Strand	Consequence	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_File	Sequencer	t_ref_count	t_alt_count	n_ref_count	n_alt_count	HGVSc	HGVSp	HGVSp_Short	Transcript_ID	RefSeq	Protein_position	Codons	Hotspot	AA_MAF	AFR_MAF	ALLELE_NUM	AMR_MAF	ASN_MAF	Allele	Amino_acids	Annotation_Transcript	BIOTYPE	CANONICAL	CCDS	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CDS_position	CGC_Mutation_Type	CGC_Other_Diseases	CGC_Translocation_Partner	CGC_Tumor_Types_Germline	CGC_Tumor_Types_Somatic	CLIN_SIG	COSMIC_fusion_genes	COSMIC_overlapping_mutations	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Codon_Change	DISTANCE	DNARepairGenes_Role	DOMAINS	Description	DrugBank	EAS_MAF	EA_MAF	ENSP	EUR_MAF	EXON	ExAC_AF	ExAC_AF_AFR	ExAC_AF_AMR	ExAC_AF_EAS	ExAC_AF_FIN	ExAC_AF_NFE	ExAC_AF_OTH	ExAC_AF_SAS	Existing_variation	Exon_Number	FILTER	FamilialCancerDatabase_Syndromes	Feature	Feature_type	GENE_PHENO	GMAF	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	Gene	Genome_Change	HGNC_ID	HGVS_OFFSET	HIGH_INF_POS	IMPACT	INTRON	MA:FIS	MA:FImpact	MA:link.MSA	MA:link.PDB	MA:link.var	MA:protein.change	MA_FI.score	MA_Func.Impact	MINIMISED	MOTIF_NAME	MOTIF_POS	MOTIF_SCORE_CHANGE	MUTSIG_Published_Results	ONCOTATOR_CODON_CHANGE	ONCOTATOR_CODON_CHANGE_BEST_EFFECT	ONCOTATOR_COSMIC_OVERLAPPING	ONCOTATOR_DBSNP_RS	ONCOTATOR_DBSNP_VAL_STATUS	ONCOTATOR_EXON_AFFECTED	ONCOTATOR_EXON_AFFECTED_BEST_EFFECT	ONCOTATOR_GENE_SYMBOL	ONCOTATOR_GENE_SYMBOL_BEST_EFFECT	ONCOTATOR_PROTEIN_CHANGE	ONCOTATOR_PROTEIN_CHANGE_BEST_EFFECT	ONCOTATOR_PROTEIN_POS_END	ONCOTATOR_PROTEIN_POS_END_BEST_EFFECT	ONCOTATOR_PROTEIN_POS_START	ONCOTATOR_PROTEIN_POS_START_BEST_EFFECT	ONCOTATOR_REFSEQ_MRNA_ID	ONCOTATOR_REFSEQ_MRNA_ID_BEST_EFFECT	ONCOTATOR_REFSEQ_PROT_ID	ONCOTATOR_REFSEQ_PROT_ID_BEST_EFFECT	ONCOTATOR_TRANSCRIPT_CHANGE	ONCOTATOR_TRANSCRIPT_CHANGE_BEST_EFFECT	ONCOTATOR_UNIPROT_ACCESSION	ONCOTATOR_UNIPROT_ACCESSION_BEST_EFFECT	ONCOTATOR_UNIPROT_ENTRY_NAME	ONCOTATOR_UNIPROT_ENTRY_NAME_BEST_EFFECT	ONCOTATOR_VARIANT_CLASSIFICATION	ONCOTATOR_VARIANT_CLASSIFICATION_BEST_EFFECT	OREGANNO_ID	OREGANNO_Values	Other_Transcripts	PHENO	PICK	PUBMED	PolyPhen	Protein_Change	Refseq_mRNA_Id	Refseq_prot_Id	SAS_MAF	SIFT	SOMATIC	SWISSPROT	SYMBOL	SYMBOL_SOURCE	SwissProt_acc_Id	SwissProt_entry_Id	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	TREMBL	TSL	Transcript_Exon	Transcript_Position	Transcript_Strand	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	UNIPARC	UniProt_AApos	UniProt_Experimental_Info	UniProt_Natural_Variations	UniProt_Region	UniProt_Site	VARIANT_CLASS	all_effects	annotation_transcript	cDNA_Change	cDNA_position	categ	categ_ignoring_null_categ	ccle_oncomap_overlapping_mutations	ccle_oncomap_total_mutations_in_gene	cdna_change	cgc_mutation_type	cgc_other_diseases	cgc_translocation_partner	cgc_tumor_types_germline	cgc_tumor_types_somatic	chr	classification	codon_change	context65	context_orig	cosmic_fusion_genes	cosmic_overlapping_mutations	cosmic_tissue_types_affected	cosmic_total_alterations_in_gene	dataset	description	dnarepairgenes_role	drugbank	end	familialcancerdatabase_syndromes	gc_content	gene	gene_idx	genome_change	go_biological_process	go_cellular_component	go_molecular_function	i_ACHILLES_Top_Genes	i_CCLE_SEQ_overlapping_mutations	i_CCLE_SEQ_total_mutations_in_gene	i_achilles_top_genes	i_ccle_seq_overlapping_mutations	i_ccle_seq_total_mutations_in_gene	i_init_t_lod	i_judgement	i_t_ALT_F1R2	i_t_ALT_F2R1	i_t_Foxog	i_t_REF_F1R2	i_t_REF_F2R1	i_t_alt_f1r2	i_t_alt_f2r1	i_t_foxog	i_t_lod_fstar	i_t_ref_f1r2	i_t_ref_f2r1	i_tumor_f	is_coding	is_del	is_flank	is_indel	is_ins	is_missense	is_nonsense	is_silent	is_splice	ma_fi.score	ma_func.impact	mutsig_published_results	n_depth	newbase	oreganno_id	oreganno_values	other_transcripts	pat_idx	patient	protein_change	ref_allele	ref_context	refseq_mrna_id	refseq_prot_id	start	swissprot_acc_id	swissprot_entry_id	t_depth	tcgascape_amplification_peaks	tcgascape_deletion_peaks	transcript_exon	transcript_position	transcript_strand	tum_allele1	tum_allele2	tumorscape_amplification_peaks	tumorscape_deletion_peaks	type	uniprot_aapos	uniprot_experimental_info	uniprot_natural_variations	uniprot_region	uniprot_site	validation_alt_allele	validation_tumor_sample
MARCH4	57574	broad.mit.edu	GRCh37	2	217234886	217234886	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01	TCGA-06-0173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273067.4:c.98G>A	p.Arg33His	p.R33H	ENST00000273067	NM_020814.2	33	cGc/cAc	0			1			T	R/H	uc002vgb.2	protein_coding	YES	CCDS33376.1			98/1233									ovary(1)	1	c.(97-99)CGC>CAC			hmmpanther:PTHR23012,hmmpanther:PTHR23012:SF51	membrane-associated ring finger (C3HC4) 4				ENSP00000273067		4-Jan									COSM1214561	4-Jan	.		ENST00000273067	Transcript				Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	ENSG00000144583	g.chr2:217234886C>T	29269			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=MARH4_HUMAN&rb=14&re=126&var=R33H	NA	getma.org/?cm=var&var=hg19,2,217234886,C,T&fts=all	R33H	--	--	1																																			1	1		probably_damaging(0.964)	p.R33H	NM_020814	NP_065865		tolerated_low_confidence(0.12)	1	MARH4_HUMAN	4-Mar	HGNC	Q9P2E8	MARH4_HUMAN		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)			1	1865	-		Renal(323;0.0854)	UPI00001C1DB9	33					SNV	MARCH4,missense_variant,p.Arg33His,ENST00000273067,NM_020814.2;	uc002vgb.2	c.98G>A	1865/4447	2	2			c.98G>A						2	SNP	c.(97-99)CGC>CAC	41	41			ovary(1)	1	Broad	membrane-associated ring finger (C3HC4) 4			217234886		0.632	ENSG00000144583	9130	g.chr2:217234886C>T		Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding							12.06944	KEEP	2	3	-1	7	5	2	3	-1	12.570109	7	5	0.3125	1	0	0	0	0	1	0	0	0	--	--		0	T				36	GBM-06-0173-TP	p.R33H	C	ACCCTGGTGGCGCAACATCTG	NM_020814	NP_065865	217234886	Q9P2E8	MARH4_HUMAN	0		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)	1	1865	-	T	T		Renal(323;0.0854)	Missense_Mutation	33						
MARCH4	0	broad.mit.edu	GRCh37	2	217234856	217234856	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273067.4:c.128G>A	p.Arg43His	p.R43H	ENST00000273067	NM_020814.2	43	cGc/cAc	0			1			T	R/H	uc002vgb.2	protein_coding	YES	CCDS33376.1			128/1233									ovary(1)	1	c.(127-129)CGC>CAC			hmmpanther:PTHR23012,hmmpanther:PTHR23012:SF51	membrane-associated ring finger (C3HC4) 4				ENSP00000273067		4-Jan									COSM2717640	4-Jan	.		ENST00000273067	Transcript				Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	ENSG00000144583	g.chr2:217234856C>T	29269			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=MARH4_HUMAN&rb=14&re=126&var=R43H	NA	getma.org/?cm=var&var=hg19,2,217234856,C,T&fts=all	R43H	--	--	1																																			1	1		probably_damaging(0.964)	p.R43H	NM_020814	NP_065865		tolerated_low_confidence(0.06)	1	MARH4_HUMAN	4-Mar	HGNC	Q9P2E8	MARH4_HUMAN		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)			1	1895	-		Renal(323;0.0854)	UPI00001C1DB9	43					SNV	MARCH4,missense_variant,p.Arg43His,ENST00000273067,NM_020814.2;	uc002vgb.2	c.128G>A	1895/4447	2	2			c.128G>A						2	SNP	c.(127-129)CGC>CAC	24	24			ovary(1)	1	Broad	membrane-associated ring finger (C3HC4) 4			217234856		0.652	ENSG00000144583	9130	g.chr2:217234856C>T		Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding							11.562507	KEEP	4	3	-1	9	11	4	3	-1	13.065198	9	11	0.227273	1	0	0	0	0	1	0	0	0	--	--		0	T				229	GBM-32-1977-TP	p.R43H	C	GAAGAGCATGCGGCAGCGGCA	NM_020814	NP_065865	217234856	Q9P2E8	MARH4_HUMAN	0		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)	1	1895	-	T	T		Renal(323;0.0854)	Missense_Mutation	43						
MARCH6	10299	broad.mit.edu	GRCh37	5	10387160	10387160	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-5417-01	TCGA-06-5417-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274140.5:c.389C>G	p.Pro130Arg	p.P130R	ENST00000274140	NM_005885.3	130	cCa/cGa	0			1			G	P/R	uc003jet.1	protein_coding	YES	CCDS34135.1			389/2733									ovary(1)|breast(1)	2	c.(388-390)CCA>CGA			hmmpanther:PTHR13145:SF0,hmmpanther:PTHR13145	membrane-associated ring finger (C3HC4) 6				ENSP00000274140		26-May									COSM3409655	26-May	.		ENST00000274140	Transcript			protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000145495	g.chr5:10387160C>G	30550			MODERATE		2.595	medium	getma.org/?cm=msa&ty=f&p=MARH6_HUMAN&rb=56&re=255&var=P130R	NA	getma.org/?cm=var&var=hg19,5,10387160,C,G&fts=all	P130R	--	--	1																																		MARCH6_uc011cmu.1_Missense_Mutation_p.P82R|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Missense_Mutation_p.P25R	1	1		probably_damaging(0.97)	p.P130R	NM_005885	NP_005876		deleterious(0)	1	MARH6_HUMAN	6-Mar	HGNC	O60337	MARH6_HUMAN					5	572	+			UPI00001B94D6	130			Extracellular (Potential).		SNV	MARCH6,missense_variant,p.Pro130Arg,ENST00000274140,NM_005885.3;MARCH6,missense_variant,p.Pro82Arg,ENST00000449913,NM_001270660.1;MARCH6,missense_variant,p.Pro25Arg,ENST00000503788,NM_001270661.1;MARCH6,non_coding_transcript_exon_variant,,ENST00000507863,;MARCH6,non_coding_transcript_exon_variant,,ENST00000510872,;MARCH6,non_coding_transcript_exon_variant,,ENST00000511802,;MARCH6,non_coding_transcript_exon_variant,,ENST00000506131,;MARCH6,intron_variant,,ENST00000502795,;	uc003jet.1	c.389C>G	521/9569	3	3			c.389C>G						5	SNP	c.(388-390)CCA>CGA	64	64			ovary(1)|breast(1)	2	Broad	membrane-associated ring finger (C3HC4) 6			10387160		0.423	ENSG00000145495	9132	g.chr5:10387160C>G	protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding							-17.470095	KEEP	3	0	-1	65	68	3	0	-1	7.068444	65	68	0.029703	1	0	0	0	0	1	0	0	0	--	--		0	G			MARCH6_uc011cmu.1_Missense_Mutation_p.P82R|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Missense_Mutation_p.P25R	99	GBM-06-5417-TP	p.P130R	C	CTGACGCTGCCATTAGATATG	NM_005885	NP_005876	10387160	O60337	MARH6_HUMAN	0			5	572	+	G	G			Missense_Mutation	130			Extracellular (Potential).			
MARCH6	0	broad.mit.edu	GRCh37	5	10394249	10394249	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-6700-01	TCGA-06-6700-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274140.5:c.822G>A	p.Trp274Ter	p.W274*	ENST00000274140	NM_005885.3	274	tgG/tgA	0			1			A	W/*	uc003jet.1	protein_coding	YES	CCDS34135.1			822/2733									ovary(1)|breast(1)	2	c.(820-822)TGG>TGA			hmmpanther:PTHR13145:SF0,hmmpanther:PTHR13145	membrane-associated ring finger (C3HC4) 6				ENSP00000274140		26-Aug									COSM3409656	26-Aug	.		ENST00000274140	Transcript			protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000145495	g.chr5:10394249G>A	30550			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,5,10394249,G,A&fts=all	W274*	--	--	1																																		MARCH6_uc011cmu.1_Nonsense_Mutation_p.W226*|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Nonsense_Mutation_p.W169*	1	1			p.W274*	NM_005885	NP_005876			1	MARH6_HUMAN	6-Mar	HGNC	O60337	MARH6_HUMAN					8	1005	+			UPI00001B94D6	274			Cytoplasmic (Potential).		SNV	MARCH6,stop_gained,p.Trp274Ter,ENST00000274140,NM_005885.3;MARCH6,stop_gained,p.Trp226Ter,ENST00000449913,NM_001270660.1;MARCH6,stop_gained,p.Trp169Ter,ENST00000503788,NM_001270661.1;MARCH6,downstream_gene_variant,,ENST00000507863,;MARCH6,downstream_gene_variant,,ENST00000510872,;MARCH6,non_coding_transcript_exon_variant,,ENST00000511802,;MARCH6,downstream_gene_variant,,ENST00000502795,;MARCH6,downstream_gene_variant,,ENST00000506131,;	uc003jet.1	c.822G>A	954/9569	5	2			c.822G>A						5	SNP	c.(820-822)TGG>TGA	20	20			ovary(1)|breast(1)	2	Broad	membrane-associated ring finger (C3HC4) 6			10394249		0.303	ENSG00000145495	9132	g.chr5:10394249G>A	protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding							10.456741	KEEP	6	1	-1	14	14	6	1	-1	13.180907	14	14	0.178571	1	0	0	0	0	0	1	0	0	--	--		0	A			MARCH6_uc011cmu.1_Nonsense_Mutation_p.W226*|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Nonsense_Mutation_p.W169*	114	GBM-06-6700-TP	p.W274*	G	AGCTTACATGGGAAAGAGTAA	NM_005885	NP_005876	10394249	O60337	MARH6_HUMAN	0			8	1005	+	A	A			Nonsense_Mutation	274			Cytoplasmic (Potential).			
MARCH6	0	broad.mit.edu	GRCh37	5	10423856	10423857	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-14-0871-01	TCGA-14-0871-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274140.5:c.2295dupT	p.Gly766TrpfsTer25	p.G766Wfs*25	ENST00000274140	NM_005885.3	765	ctt/cTtt	0			1			T	L/LX	uc003jet.1	protein_coding	YES	CCDS34135.1			2293-2294/2733									ovary(1)|breast(1)	2	c.(2293-2295)CTTfs			Transmembrane_helices:TMhelix,hmmpanther:PTHR13145:SF0,hmmpanther:PTHR13145	membrane-associated ring finger (C3HC4) 6				ENSP00000274140		23/26										23/26	.		ENST00000274140	Transcript			protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000145495	g.chr5:10423856_10423857insT	30550	2		HIGH								--	--	1																																		MARCH6_uc011cmu.1_Frame_Shift_Ins_p.L717fs|MARCH6_uc003jeu.1_Frame_Shift_Ins_p.L463fs|MARCH6_uc011cmv.1_Frame_Shift_Ins_p.L660fs		1			p.L765fs	NM_005885	NP_005876				MARH6_HUMAN	6-Mar	HGNC	O60337	MARH6_HUMAN					23	2476_2477	+			UPI00001B94D6	765			Helical; (Potential).		insertion	MARCH6,frameshift_variant,p.Gly766TrpfsTer25,ENST00000274140,NM_005885.3;MARCH6,frameshift_variant,p.Gly718TrpfsTer25,ENST00000449913,NM_001270660.1;MARCH6,frameshift_variant,p.Gly661TrpfsTer25,ENST00000503788,NM_001270661.1;MARCH6,frameshift_variant,p.Gly464TrpfsTer25,ENST00000510792,;MARCH6,downstream_gene_variant,,ENST00000505253,;MARCH6,non_coding_transcript_exon_variant,,ENST00000511802,;MARCH6,non_coding_transcript_exon_variant,,ENST00000512449,;	uc003jet.1	c.2293_2294insT	2425-2426/9569	5	5			c.2293_2294insT						5	INS	c.(2293-2295)CTTfs	36	36			ovary(1)|breast(1)	2	Broad	membrane-associated ring finger (C3HC4) 6			10423857		0.361	ENSG00000145495	9132	g.chr5:10423856_10423857insT	protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding																				0.13	1	0	0	1	1	0	0	0	0	--	--		0	T			MARCH6_uc011cmu.1_Frame_Shift_Ins_p.L717fs|MARCH6_uc003jeu.1_Frame_Shift_Ins_p.L463fs|MARCH6_uc011cmv.1_Frame_Shift_Ins_p.L660fs	141	GBM-14-0871-TP	p.L765fs	-	GGACTGGGCACTTGGAGTCCTG	NM_005885	NP_005876	10423856	O60337	MARH6_HUMAN	0			23	2476_2477	+	T	T			Frame_Shift_Ins	765			Helical; (Potential).			
MARCH10	0	broad.mit.edu	GRCh37	17	60865912	60865912	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs146312903	byFrequency;by1000genomes	TCGA-14-0789-01	TCGA-14-0789-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311269.5:c.139C>T	p.Arg47Cys	p.R47C	ENST00000311269	NM_152598.2	47	Cgc/Tgc	0	A:0.0034	A:0.0038	1	A:0		A	R/C	uc010ddr.2	protein_coding	YES	CCDS11635.1			139/2427										0	c.(139-141)CGC>TGC			hmmpanther:PTHR14471,hmmpanther:PTHR14471:SF5	ring finger protein 190		A:0	A:0	ENSP00000311496	A:0	11-Mar	0.000469	0.00461	8.64E-05	0.000578		4.50E-05			rs146312903,COSM3403086	11-Mar	common_variant		ENST00000311269	Transcript		A:0.0010			ligase activity|zinc ion binding	ENSG00000173838	g.chr17:60865912G>A	26655			MODERATE		1.95	medium	getma.org/?cm=msa&ty=f&p=MARHA_HUMAN&rb=1&re=647&var=R47C	NA	getma.org/?cm=var&var=hg19,17,60865912,G,A&fts=all	R47C	--	--	1																																		MARCH10_uc002jag.3_Missense_Mutation_p.R47C|MARCH10_uc010dds.2_Missense_Mutation_p.R47C|MARCH10_uc002jah.2_Missense_Mutation_p.R47C	0,1	1		possibly_damaging(0.855)	p.R47C	NM_001100875	NP_001094345	A:0	deleterious(0)	0,1	MARHA_HUMAN	10-Mar	HGNC	Q8NA82	MARHA_HUMAN			J3KTK3_HUMAN		3	377	-			UPI000013F13A	47					SNV	MARCH10,missense_variant,p.Arg47Cys,ENST00000544856,NM_001288780.1;MARCH10,missense_variant,p.Arg47Cys,ENST00000583600,NM_001288779.1;MARCH10,missense_variant,p.Arg47Cys,ENST00000311269,NM_152598.2;MARCH10,missense_variant,p.Arg47Cys,ENST00000456609,NM_001100875.1;MARCH10,missense_variant,p.Arg47Cys,ENST00000583803,;MARCH10,non_coding_transcript_exon_variant,,ENST00000578346,;	uc010ddr.2	c.139C>T	414/3090	2	2			c.139C>T						17	SNP	c.(139-141)CGC>TGC	47	47				0	Broad	ring finger protein 190			60865912		0.443	ENSG00000173838	9126	g.chr17:60865912G>A			ligase activity|zinc ion binding							118.470613	KEEP	30	18	-1	65	60	30	18	-1	125.314046	65	60	0.28125	1	0	0	0	0	1	0	0	0	--	--		0	A			MARCH10_uc002jag.3_Missense_Mutation_p.R47C|MARCH10_uc010dds.2_Missense_Mutation_p.R47C|MARCH10_uc002jah.2_Missense_Mutation_p.R47C	136	GBM-14-0789-TP	p.R47C	G	AACTGATCGCGTTTCTTCTCA	NM_001100875	NP_001094345	60865912	Q8NA82	MARHA_HUMAN	0			3	377	-	A	A			Missense_Mutation	47						
MARCH10	0	broad.mit.edu	GRCh37	17	60879073	60879073	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311269.5:c.24G>T	p.Arg8Ser	p.R8S	ENST00000311269	NM_152598.2	8	agG/agT	0			1			A	R/S	uc010ddr.2	protein_coding	YES	CCDS11635.1			24/2427										0	c.(22-24)AGG>AGT			hmmpanther:PTHR14471,hmmpanther:PTHR14471:SF5	ring finger protein 190				ENSP00000311496		11-Feb									COSM3403087	11-Feb	.		ENST00000311269	Transcript					ligase activity|zinc ion binding	ENSG00000173838	g.chr17:60879073C>A	26655			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=MARHA_HUMAN&rb=1&re=647&var=R8S	NA	getma.org/?cm=var&var=hg19,17,60879073,C,A&fts=all	R8S	--	--	1																																		MARCH10_uc002jag.3_Missense_Mutation_p.R8S|MARCH10_uc010dds.2_Missense_Mutation_p.R8S|MARCH10_uc002jah.2_Missense_Mutation_p.R8S	1	1		probably_damaging(0.999)	p.R8S	NM_001100875	NP_001094345		deleterious(0)	1	MARHA_HUMAN	10-Mar	HGNC	Q8NA82	MARHA_HUMAN			J3KTK3_HUMAN		2	262	-			UPI000013F13A	8					SNV	MARCH10,missense_variant,p.Arg8Ser,ENST00000544856,NM_001288780.1;MARCH10,missense_variant,p.Arg8Ser,ENST00000583600,NM_001288779.1;MARCH10,missense_variant,p.Arg8Ser,ENST00000311269,NM_152598.2;MARCH10,missense_variant,p.Arg8Ser,ENST00000456609,NM_001100875.1;MARCH10,missense_variant,p.Arg8Ser,ENST00000583803,;MARCH10,non_coding_transcript_exon_variant,,ENST00000578346,;	uc010ddr.2	c.24G>T	299/3090	2	2			c.24G>T						17	SNP	c.(22-24)AGG>AGT	45	45				0	Broad	ring finger protein 190			60879073		0.453	ENSG00000173838	9126	g.chr17:60879073C>A			ligase activity|zinc ion binding							116.983962	KEEP	28	30	0.517241379	95	113	28	30	0.517241379	132.176247	95	113	0.227679	1	0	0	0	0	1	0	0	0	--	--		0	A			MARCH10_uc002jag.3_Missense_Mutation_p.R8S|MARCH10_uc010dds.2_Missense_Mutation_p.R8S|MARCH10_uc002jah.2_Missense_Mutation_p.R8S	229	GBM-32-1977-TP	p.R8S	C	AGAACTTCTGCCTGTCCCTTG	NM_001100875	NP_001094345	60879073	Q8NA82	MARHA_HUMAN	0			2	262	-	A	A			Missense_Mutation	8						
SEPT4	5414	broad.mit.edu	GRCh37	17	56599396	56599396	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-2559-01	TCGA-06-2559-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000457347.2:c.774G>T	p.Leu258=	p.L258=	ENST00000457347	NM_001256782.1	258	ctG/ctT	0			1			A	L	uc002iwm.1	protein_coding		CCDS11610.1			729/1437										0	c.(727-729)CTG>CTT			PROSITE_profiles:PS51719,hmmpanther:PTHR18884,hmmpanther:PTHR18884:SF2,Pfam_domain:PF00735,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	septin 4 isoform 1				ENSP00000321674		12-Jun									COSM3403054,COSM3403056,COSM3403055	12-Jun	.		ENST00000317268	Transcript			apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	ENSG00000108387	g.chr17:56599396C>A	9165			LOW								--	--	1																																		SEPT4_uc002iwk.1_Silent_p.L96L|SEPT4_uc010wnw.1_Silent_p.L96L|SEPT4_uc002iwl.1_Silent_p.L96L|SEPT4_uc002iwn.1_Silent_p.L144L|SEPT4_uc002iwo.1_Silent_p.L224L|SEPT4_uc002iwp.1_Silent_p.L224L|SEPT4_uc010wnx.1_Silent_p.L258L|SEPT4_uc010wny.1_Silent_p.L235L|SEPT4_uc010dcy.1_Silent_p.L125L	1,1,1				p.L243L	NM_004574	NP_004565			1,1,1	SEPT4_HUMAN	4-Sep	HGNC	O43236	SEPT4_HUMAN					6	857	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		UPI000013585C	243					SNV	SEPT4,synonymous_variant,p.=,ENST00000426861,NM_080415.2;SEPT4,synonymous_variant,p.=,ENST00000457347,NM_001256782.1;SEPT4,synonymous_variant,p.=,ENST00000317268,NM_004574.3;SEPT4,synonymous_variant,p.=,ENST00000583114,NM_001256822.1;SEPT4,synonymous_variant,p.=,ENST00000412945,NM_001198713.1;SEPT4,synonymous_variant,p.=,ENST00000393086,;SEPT4,synonymous_variant,p.=,ENST00000317256,NM_080416.2;SEPT4,synonymous_variant,p.=,ENST00000580844,;SEPT4,synonymous_variant,p.=,ENST00000579371,;SEPT4,synonymous_variant,p.=,ENST00000580809,;SEPT4,synonymous_variant,p.=,ENST00000577729,;MTMR4,upstream_gene_variant,,ENST00000323456,NM_004687.4;MTMR4,upstream_gene_variant,,ENST00000579925,;SEPT4,downstream_gene_variant,,ENST00000583291,;SEPT4,downstream_gene_variant,,ENST00000581607,;MTMR4,upstream_gene_variant,,ENST00000579921,;RP11-112H10.4,intron_variant,,ENST00000580589,;RP11-112H10.4,upstream_gene_variant,,ENST00000580769,;RP11-112H10.4,upstream_gene_variant,,ENST00000578022,;SEPT4,downstream_gene_variant,,ENST00000580791,;SEPT4,downstream_gene_variant,,ENST00000584528,;SEPT4,downstream_gene_variant,,ENST00000580740,;SEPT4,downstream_gene_variant,,ENST00000581921,;SEPT4,3_prime_UTR_variant,,ENST00000581615,;SEPT4,non_coding_transcript_exon_variant,,ENST00000580796,;SEPT4,non_coding_transcript_exon_variant,,ENST00000582270,;SEPT4,non_coding_transcript_exon_variant,,ENST00000583273,;SEPT4,non_coding_transcript_exon_variant,,ENST00000577440,;SEPT4,non_coding_transcript_exon_variant,,ENST00000584488,;SEPT4,downstream_gene_variant,,ENST00000585170,;SEPT4,downstream_gene_variant,,ENST00000584789,;SEPT4,downstream_gene_variant,,ENST00000582248,;MTMR4,upstream_gene_variant,,ENST00000582663,;SEPT4,downstream_gene_variant,,ENST00000578747,;SEPT4,downstream_gene_variant,,ENST00000578131,;	uc002iwm.1	c.729G>T	906/1784	1	1			c.729G>T						17	SNP	c.(727-729)CTG>CTT	52	52				0	Broad	septin 4 isoform 1			56599396		0.542	ENSG00000108387	13846	g.chr17:56599396C>A	apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity							15.221088	KEEP	5	12	0.705882353	62	57	5	12	0.705882353	31.286536	62	57	0.127119	1	0	0	0	0	0	0	1	0	--	--		0	A			SEPT4_uc002iwk.1_Silent_p.L96L|SEPT4_uc010wnw.1_Silent_p.L96L|SEPT4_uc002iwl.1_Silent_p.L96L|SEPT4_uc002iwn.1_Silent_p.L144L|SEPT4_uc002iwo.1_Silent_p.L224L|SEPT4_uc002iwp.1_Silent_p.L224L|SEPT4_uc010wnx.1_Silent_p.L258L|SEPT4_uc010wny.1_Silent_p.L235L|SEPT4_uc010dcy.1_Silent_p.L125L	83	GBM-06-2559-TP	p.L243L	C	TCTTTCGGTTCAGGCCACTCT	NM_004574	NP_004565	56599396	O43236	SEPT4_HUMAN	0			6	857	-	A	A	Medulloblastoma(34;0.127)|all_neural(34;0.237)		Silent	243						
SEPT4	0	broad.mit.edu	GRCh37	17	56603127	56603127	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317268.3:c.467G>A	p.Gly156Asp	p.G156D	ENST00000317268	NM_004574.3	156	gGc/gAc	0			1			T	G/D	uc002iwm.1	protein_coding		CCDS11610.1			467/1437										0	c.(466-468)GGC>GAC			PROSITE_profiles:PS51719,hmmpanther:PTHR18884,hmmpanther:PTHR18884:SF2,Pfam_domain:PF00735,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	septin 4 isoform 1				ENSP00000321674		12-Apr									COSM3403057,COSM3403059,COSM3403058	12-Apr	.		ENST00000317268	Transcript			apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	ENSG00000108387	g.chr17:56603127C>T	9165			MODERATE		4.22	high	getma.org/?cm=msa&ty=f&p=SEPT4_HUMAN&rb=141&re=421&var=G156D	getma.org/pdb.php?prot=SEPT4_HUMAN&from=141&to=421&var=G156D	getma.org/?cm=var&var=hg19,17,56603127,C,T&fts=all	G156D	--	--	1																																		SEPT4_uc002iwk.1_Missense_Mutation_p.G9D|SEPT4_uc010wnw.1_Missense_Mutation_p.G9D|SEPT4_uc002iwl.1_Missense_Mutation_p.G9D|SEPT4_uc002iwn.1_Missense_Mutation_p.G57D|SEPT4_uc002iwo.1_Missense_Mutation_p.G137D|SEPT4_uc002iwp.1_Missense_Mutation_p.G137D|SEPT4_uc010wnx.1_Missense_Mutation_p.G171D|SEPT4_uc010wny.1_Missense_Mutation_p.G148D|SEPT4_uc010dcy.1_Missense_Mutation_p.G38D	1,1,1			probably_damaging(0.993)	p.G156D	NM_004574	NP_004565		deleterious(0)	1,1,1	SEPT4_HUMAN	4-Sep	HGNC	O43236	SEPT4_HUMAN					4	595	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		UPI000013585C	156	G -> D (in Ref. 7; BAG37789).|GKS->ENP: Loss of TGF-beta-induced apoptosis. No translocation to the nucleus following TGF-beta treatment. Loss of XIAP-binding.		GTP (By similarity).		SNV	SEPT4,missense_variant,p.Gly137Asp,ENST00000426861,NM_080415.2;SEPT4,missense_variant,p.Gly171Asp,ENST00000457347,NM_001256782.1;SEPT4,missense_variant,p.Gly156Asp,ENST00000317268,NM_004574.3;SEPT4,missense_variant,p.Gly9Asp,ENST00000583114,NM_001256822.1;SEPT4,missense_variant,p.Gly148Asp,ENST00000412945,NM_001198713.1;SEPT4,missense_variant,p.Gly137Asp,ENST00000393086,;SEPT4,missense_variant,p.Gly137Asp,ENST00000317256,NM_080416.2;SEPT4,missense_variant,p.Gly57Asp,ENST00000580844,;SEPT4,missense_variant,p.Gly57Asp,ENST00000579371,;SEPT4,missense_variant,p.Gly38Asp,ENST00000580809,;SEPT4,missense_variant,p.Gly161Asp,ENST00000583291,;SEPT4,missense_variant,p.Gly62Asp,ENST00000577729,;SEPT4,downstream_gene_variant,,ENST00000581607,;RP11-112H10.4,non_coding_transcript_exon_variant,,ENST00000580769,;RP11-112H10.4,non_coding_transcript_exon_variant,,ENST00000578022,;RP11-112H10.4,non_coding_transcript_exon_variant,,ENST00000580589,;SEPT4,downstream_gene_variant,,ENST00000580791,;SEPT4,downstream_gene_variant,,ENST00000584528,;SEPT4,downstream_gene_variant,,ENST00000580740,;SEPT4,downstream_gene_variant,,ENST00000581921,;SEPT4,3_prime_UTR_variant,,ENST00000581615,;SEPT4,3_prime_UTR_variant,,ENST00000578131,;SEPT4,non_coding_transcript_exon_variant,,ENST00000585170,;SEPT4,non_coding_transcript_exon_variant,,ENST00000580796,;SEPT4,non_coding_transcript_exon_variant,,ENST00000582270,;SEPT4,non_coding_transcript_exon_variant,,ENST00000583273,;SEPT4,non_coding_transcript_exon_variant,,ENST00000577440,;SEPT4,non_coding_transcript_exon_variant,,ENST00000584488,;SEPT4,non_coding_transcript_exon_variant,,ENST00000584789,;SEPT4,downstream_gene_variant,,ENST00000582976,;SEPT4,downstream_gene_variant,,ENST00000582248,;SEPT4,downstream_gene_variant,,ENST00000578747,;	uc002iwm.1	c.467G>A	644/1784	1	1			c.467G>A						17	SNP	c.(466-468)GGC>GAC	12	12				0	Broad	septin 4 isoform 1			56603127		0.502	ENSG00000108387	13846	g.chr17:56603127C>T	apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity							-6.827476	KEEP	1	2	-1	25	43	1	2	-1	6.340809	25	43	0.04918	1	0	0	0	0	1	0	0	0	--	--		0	T			SEPT4_uc002iwk.1_Missense_Mutation_p.G9D|SEPT4_uc010wnw.1_Missense_Mutation_p.G9D|SEPT4_uc002iwl.1_Missense_Mutation_p.G9D|SEPT4_uc002iwn.1_Missense_Mutation_p.G57D|SEPT4_uc002iwo.1_Missense_Mutation_p.G137D|SEPT4_uc002iwp.1_Missense_Mutation_p.G137D|SEPT4_uc010wnx.1_Missense_Mutation_p.G171D|SEPT4_uc010wny.1_Missense_Mutation_p.G148D|SEPT4_uc010dcy.1_Missense_Mutation_p.G38D	160	GBM-19-1790-TP	p.G156D	C	TGTGGATTTGCCCAGGCCAGA	NM_004574	NP_004565	56603127	O43236	SEPT4_HUMAN	0			4	595	-	T	T	Medulloblastoma(34;0.127)|all_neural(34;0.237)		Missense_Mutation	156	G -> D (in Ref. 7; BAG37789).|GKS->ENP: Loss of TGF-beta-induced apoptosis. No translocation to the nucleus following TGF-beta treatment. Loss of XIAP-binding.		GTP (By similarity).			
SEPT9	0	broad.mit.edu	GRCh37	17	75398771	75398771	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01	TCGA-19-5955-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000427177.1:c.707C>T	p.Pro236Leu	p.P236L	ENST00000427177	NM_001113491.1	236	cCc/cTc	0			1			T	P/L	uc002jts.3	protein_coding	YES	CCDS45790.1			707/1761									breast(2)|ovary(1)	3	c.(706-708)CCC>CTC			hmmpanther:PTHR18884:SF47,hmmpanther:PTHR18884	septin 9 isoform a				ENSP00000391249		12-Mar									COSM3403252,COSM3403251,COSM3403250	12-Mar	.		ENST00000427177	Transcript	1		cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding|protein binding	ENSG00000184640	g.chr17:75398771C>T	7323			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=SEPT9_HUMAN&rb=175&re=294&var=P236L	NA	getma.org/?cm=var&var=hg19,17,75398771,C,T&fts=all	P236L	--	--	1																																		SEPT9_uc010wtk.1_Missense_Mutation_p.P217L|SEPT9_uc002jtt.3_Missense_Mutation_p.P72L|SEPT9_uc002jtu.3_Missense_Mutation_p.P218L|SEPT9_uc002jtv.2_Missense_Mutation_p.P229L|SEPT9_uc002jtw.2_Missense_Mutation_p.P72L|SEPT9_uc002jtx.1_Missense_Mutation_p.P72L|SEPT9_uc010wtl.1_5'Flank	1,1,1	1		benign(0.002)	p.P236L	NM_001113491	NP_001106963		tolerated(0.34)	1,1,1	SEPT9_HUMAN	9-Sep	HGNC	Q9UHD8	SEPT9_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.153)		Q96QF2_HUMAN,K7ERG1_HUMAN,K7ER52_HUMAN,K7EQD7_HUMAN,K7ENQ5_HUMAN,K7EN52_HUMAN,K7ELJ9_HUMAN,K7EL40_HUMAN,K7EKN4_HUMAN,K7EK18_HUMAN,K7EJZ2_HUMAN,K7EIR4_HUMAN,K7EIE4_HUMAN		3	833	+			UPI00001AF955	236					SNV	SEPT9,missense_variant,p.Pro218Leu,ENST00000329047,NM_006640.4;SEPT9,missense_variant,p.Pro72Leu,ENST00000431235,;SEPT9,missense_variant,p.Pro72Leu,ENST00000449803,NM_001113492.1;SEPT9,missense_variant,p.Pro229Leu,ENST00000423034,NM_001113493.1;SEPT9,missense_variant,p.Pro72Leu,ENST00000427674,NM_001113494.1;SEPT9,missense_variant,p.Pro236Leu,ENST00000427177,NM_001113491.1;SEPT9,missense_variant,p.Pro72Leu,ENST00000588690,;SEPT9,missense_variant,p.Pro218Leu,ENST00000590294,;SEPT9,missense_variant,p.Pro45Leu,ENST00000592420,;SEPT9,missense_variant,p.Pro217Leu,ENST00000591198,;SEPT9,missense_variant,p.Pro53Leu,ENST00000590059,;SEPT9,missense_variant,p.Pro130Leu,ENST00000590595,;SEPT9,upstream_gene_variant,,ENST00000585930,;SEPT9,downstream_gene_variant,,ENST00000589070,;SEPT9,downstream_gene_variant,,ENST00000590825,;SEPT9,downstream_gene_variant,,ENST00000591934,;SEPT9,downstream_gene_variant,,ENST00000589140,;SEPT9,downstream_gene_variant,,ENST00000590586,;SEPT9,downstream_gene_variant,,ENST00000587237,;SEPT9,downstream_gene_variant,,ENST00000587514,;SEPT9,downstream_gene_variant,,ENST00000592407,;SEPT9,downstream_gene_variant,,ENST00000592098,;SEPT9,downstream_gene_variant,,ENST00000586812,;SEPT9,intron_variant,,ENST00000588575,;SEPT9,downstream_gene_variant,,ENST00000590576,;SEPT9,downstream_gene_variant,,ENST00000591833,;	uc002jts.3	c.707C>T	833/3821	2	2			c.707C>T						17	SNP	c.(706-708)CCC>CTC	26	26			breast(2)|ovary(1)	3	Broad	septin 9 isoform a			75398771		0.627	ENSG00000184640	13851	g.chr17:75398771C>T	cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding|protein binding			329			329	22.053372	KEEP	4	7	-1	15	25	4	7	-1	24.645124	15	25	0.230769	1	0	0	0	0	1	0	0	0	--	--		0	T			SEPT9_uc010wtk.1_Missense_Mutation_p.P217L|SEPT9_uc002jtt.3_Missense_Mutation_p.P72L|SEPT9_uc002jtu.3_Missense_Mutation_p.P218L|SEPT9_uc002jtv.2_Missense_Mutation_p.P229L|SEPT9_uc002jtw.2_Missense_Mutation_p.P72L|SEPT9_uc002jtx.1_Missense_Mutation_p.P72L|SEPT9_uc010wtl.1_5'Flank	175	GBM-19-5955-TP	p.P236L	C	GAGGCTACACCCCGGAGCCAG	NM_001113491	NP_001106963	75398771	Q9UHD8	SEPT9_HUMAN	0	BRCA - Breast invasive adenocarcinoma(99;0.153)		3	833	+	T	T			Missense_Mutation	236						
SEPT10	151011	broad.mit.edu	GRCh37	2	110303622	110303625	+	splice_donor_variant,intron_variant	Splice_Site	DEL	CTTA	CTTA	-			TCGA-06-0168-01	TCGA-06-0168-01	CTTA	CTTA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397712.2:c.1349+2_1349+5del		p.X450_splice	ENST00000397712	NM_144710.3	450		0			1			-		uc002tew.2	protein_coding	YES	CCDS46383.1			1349/1365										0	c.e10+1				septin 10 isoform 1				ENSP00000380824			8.27E-06		8.69E-05						rs763052156		.		ENST00000397712	Transcript			cell cycle|cell division	septin complex	GTP binding	ENSG00000186522	g.chr2:110303622_110303625delCTTA	14349			HIGH	10-Oct							--	--	1																																OREG0014878	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	SEPT10_uc010ywu.1_3'UTR|SEPT10_uc002tex.2_Splice_Site_p.N427_splice|SEPT10_uc002tey.2_Splice_Site_p.K450_splice|SEPT10_uc010ywv.1_Splice_Site_p.N316_splice|SEPT10_uc002tev.1_3'UTR|SEPT10_uc010fjo.2_Splice_Site		1			p.N450_splice	NM_144710	NP_653311				SEP10_HUMAN	10-Sep	HGNC	Q9P0V9	SEP10_HUMAN			Q9H9P7_HUMAN,F5H1F2_HUMAN,F5GYV2_HUMAN,C9JEW2_HUMAN		10	1728	-			UPI00000372DD						deletion	SEPT10,splice_donor_variant,,ENST00000356688,;SEPT10,splice_donor_variant,,ENST00000397712,NM_144710.3;SEPT10,splice_donor_variant,,ENST00000397714,NM_178584.2;SEPT10,splice_donor_variant,,ENST00000437928,;SEPT10,splice_donor_variant,,ENST00000334001,;SEPT10,coding_sequence_variant,,ENST00000415095,;SEPT10,coding_sequence_variant,,ENST00000545389,;SEPT10,non_coding_transcript_exon_variant,,ENST00000468616,;	uc002tew.2	c.1349_splice	-/3071	5	5			c.1349_splice						2	DEL	c.e10+1	28	28				0	Broad	septin 10 isoform 1			110303625		0.495	ENSG00000186522	13840	g.chr2:110303622_110303625delCTTA	cell cycle|cell division	septin complex	GTP binding																				0.31	1	1	0	1	0	0	0	0	1	--	--		0	-	OREG0014878	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	SEPT10_uc010ywu.1_3'UTR|SEPT10_uc002tex.2_Splice_Site_p.N427_splice|SEPT10_uc002tey.2_Splice_Site_p.K450_splice|SEPT10_uc010ywv.1_Splice_Site_p.N316_splice|SEPT10_uc002tev.1_3'UTR|SEPT10_uc010fjo.2_Splice_Site	33	GBM-06-0168-TP	p.N450_splice	CTTA	GGCTGGGCCTCTTACTTCTTACGG	NM_144710	NP_653311	110303622	Q9P0V9	SEP10_HUMAN	0			10	1728	-	-	-			Splice_Site							
SEPT11	55752	broad.mit.edu	GRCh37	4	77949846	77949846	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01	TCGA-06-2564-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264893.6:c.1018G>A	p.Glu340Lys	p.E340K	ENST00000264893	NM_018243.2	340	Gaa/Aaa	0			1			A	E/K	uc003hkj.2	protein_coding	YES	CCDS34018.1			1018/1290										0	c.(1018-1020)GAA>AAA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18884,hmmpanther:PTHR18884:SF48,PIRSF_domain:PIRSF006698	septin 11				ENSP00000264893		10-Aug									COSM2152929	10-Aug	.		ENST00000264893	Transcript			cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding	ENSG00000138758	g.chr4:77949846G>A	25589			MODERATE		2.05	medium	getma.org/?cm=msa&ty=f&p=SEP11_HUMAN&rb=312&re=354&var=E340K	NA	getma.org/?cm=var&var=hg19,4,77949846,G,A&fts=all	E340K	--	--	1																																		SEPT11_uc010ijh.1_Missense_Mutation_p.E332K|SEPT11_uc011cca.1_Missense_Mutation_p.E350K	1	1		benign(0.045)	p.E340K	NM_018243	NP_060713		tolerated(0.06)	1	SEP11_HUMAN	11-Sep	HGNC	Q9NVA2	SEP11_HUMAN					8	1180	+			UPI000007399D	340			Potential.		SNV	SEPT11,missense_variant,p.Glu340Lys,ENST00000264893,NM_018243.2;SEPT11,missense_variant,p.Glu350Lys,ENST00000541121,;SEPT11,missense_variant,p.Glu340Lys,ENST00000502584,;SEPT11,missense_variant,p.Glu340Lys,ENST00000505788,;SEPT11,missense_variant,p.Glu350Lys,ENST00000510515,;SEPT11,missense_variant,p.Glu332Lys,ENST00000510641,;SEPT11,missense_variant,p.Glu69Lys,ENST00000506731,;SEPT11,upstream_gene_variant,,ENST00000502401,;SEPT11,non_coding_transcript_exon_variant,,ENST00000512575,;SEPT11,upstream_gene_variant,,ENST00000513373,;SEPT11,upstream_gene_variant,,ENST00000513697,;	uc003hkj.2	c.1018G>A	1219/5593	2	2			c.1018G>A						4	SNP	c.(1018-1020)GAA>AAA	18	18				0	Broad	septin 11			77949846		0.403	ENSG00000138758	13841	g.chr4:77949846G>A	cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding							161.943118	KEEP	26	28	-1	35	47	26	28	-1	163.224489	35	47	0.395522	1	0	0	0	0	1	0	0	0	--	--		0	A			SEPT11_uc010ijh.1_Missense_Mutation_p.E332K|SEPT11_uc011cca.1_Missense_Mutation_p.E350K	87	GBM-06-2564-TP	p.E340K	G	GAAAGAAGAAGAAATGAGACA	NM_018243	NP_060713	77949846	Q9NVA2	SEP11_HUMAN	0			8	1180	+	A	A			Missense_Mutation	340			Potential.			
SEPT12	124404		GRCh37	16	4833669	4833669	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000268231.8:c.611G>A	p.Arg204Gln	p.R204Q	ENST00000268231	NM_144605.4	204	cGa/cAa	0																																																																																																																																																																																																																																												
SEPT14	346288	broad.mit.edu	GRCh37	7	55910809	55910809	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-6390-01	TCGA-06-6390-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388975.3:c.384A>G	p.Ile128Met	p.I128M	ENST00000388975	NM_207366.2	128	atA/atG	0			1			C	I/M	uc003tqz.2	protein_coding	YES	CCDS5519.2			384/1299										0	c.(382-384)ATA>ATG			PROSITE_profiles:PS51719,hmmpanther:PTHR18884:SF51,hmmpanther:PTHR18884,Pfam_domain:PF00735,Gene3D:3.40.50.300,PIRSF_domain:PIRSF006698,Superfamily_domains:SSF52540	septin 14				ENSP00000373627		10-May										10-May	.		ENST00000388975	Transcript	1		cell cycle|cell division	septin complex	GTP binding|protein binding	ENSG00000154997	g.chr7:55910809T>C	33280			MODERATE		3.385	medium	getma.org/?cm=msa&ty=f&p=SEP14_HUMAN&rb=49&re=321&var=I128M	getma.org/pdb.php?prot=SEP14_HUMAN&from=49&to=321&var=I128M	getma.org/?cm=var&var=hg19,7,55910809,T,C&fts=all	I128M	--	--	1																																				1		probably_damaging(0.968)	p.I128M	NM_207366	NP_997249		deleterious(0)		SEP14_HUMAN	14-Sep	HGNC	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)				5	501	-	Breast(14;0.214)		UPI0000E0AB69	128					SNV	SEPT14,missense_variant,p.Ile128Met,ENST00000388975,NM_207366.2;SEPT14,downstream_gene_variant,,ENST00000477628,;	uc003tqz.2	c.384A>G	501/3785	3	3			c.384A>G						7	SNP	c.(382-384)ATA>ATG	54	54				0	Broad	septin 14			55910809		0.358	ENSG00000154997	13843	g.chr7:55910809T>C	cell cycle|cell division	septin complex	GTP binding|protein binding							3.703444	KEEP	1	2	-1	12	21	1	2	-1	8.243471	12	21	0.103448	1	0	0	0	0	1	0	0	0	--	--		0	C				106	GBM-06-6390-TP	p.I128M	T	TGTAGTCAACTATTGGTTGGT	NM_207366	NP_997249	55910809	Q6ZU15	SEP14_HUMAN	0	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		5	501	-	C	C	Breast(14;0.214)		Missense_Mutation	128						
SEPT14	0	broad.mit.edu	GRCh37	7	55874801	55874801	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-12-0615-01	TCGA-12-0615-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388975.3:c.968C>G	p.Pro323Arg	p.P323R	ENST00000388975	NM_207366.2	323	cCa/cGa	0			1			C	P/R	uc003tqz.2	protein_coding	YES	CCDS5519.2			968/1299										0	c.(967-969)CCA>CGA			hmmpanther:PTHR18884:SF51,hmmpanther:PTHR18884,PIRSF_domain:PIRSF006698	septin 14				ENSP00000373627		10-Aug									COSM2153510,COSM2153509	10-Aug	.		ENST00000388975	Transcript	1		cell cycle|cell division	septin complex	GTP binding|protein binding	ENSG00000154997	g.chr7:55874801G>C	33280			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=SEP14_HUMAN&rb=322&re=373&var=P323R	NA	getma.org/?cm=var&var=hg19,7,55874801,G,C&fts=all	P323R	--	--	1																																			1,1	1		probably_damaging(0.985)	p.P323R	NM_207366	NP_997249		deleterious(0.04)	1,1	SEP14_HUMAN	14-Sep	HGNC	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)				8	1085	-	Breast(14;0.214)		UPI0000E0AB69	323					SNV	SEPT14,missense_variant,p.Pro323Arg,ENST00000388975,NM_207366.2;RP11-419M24.1,downstream_gene_variant,,ENST00000443044,;	uc003tqz.2	c.968C>G	1085/3785	3	3			c.968C>G						7	SNP	c.(967-969)CCA>CGA	16	16				0	Broad	septin 14			55874801		0.368	ENSG00000154997	13843	g.chr7:55874801G>C	cell cycle|cell division	septin complex	GTP binding|protein binding							1946.930765	KEEP	288	368	-1	159	181	288	368	-1	1964.954338	159	181	0.648128	1	0	0	0	0	1	0	0	0	--	--		0	C				117	GBM-12-0615-TP	p.P323R	G	CTGGTTGTTTGGACCCACATC	NM_207366	NP_997249	55874801	Q6ZU15	SEP14_HUMAN	0	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		8	1085	-	C	C	Breast(14;0.214)		Missense_Mutation	323						
SEPT14	346288		GRCh37	7	55912359	55912359	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000388975.3:c.228C>T	p.Asn76=	p.N76=	ENST00000388975	NM_207366.2	76	aaC/aaT	0																																																																																																																																																																																																																																												
DEC1	0	broad.mit.edu	GRCh37	9	118162691	118162691	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-27-2521-01	TCGA-27-2521-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374016.1:c.67C>G	p.Leu23Val	p.L23V	ENST00000374016	NM_017418.2	23	Ctt/Gtt	0			1			G	L/V	uc004bjk.1	protein_coding	YES	CCDS6812.1			67/213									ovary(1)	1	c.(67-69)CTT>GTT				deleted in esophageal cancer 1				ENSP00000363128		8-Jun									COSM3413297	8-Jun	.		ENST00000374016	Transcript			negative regulation of cell proliferation			ENSG00000173077	g.chr9:118162691C>G	23658			MODERATE								--	--	1																																		DEC1_uc004bjl.1_Intron	1	1		possibly_damaging(0.801)	p.L23V	NM_017418	NP_059114		deleterious_low_confidence(0.03)	1	DEC1_HUMAN	1-Dec	HGNC	Q9P2X7	DEC1_HUMAN					6	586	+			UPI0000071741	23					SNV	DEC1,missense_variant,p.Leu23Val,ENST00000374016,NM_017418.2;	uc004bjk.1	c.67C>G	586/1251	4	4			c.67C>G						9	SNP	c.(67-69)CTT>GTT	29	29			ovary(1)	1	Broad	deleted in esophageal cancer 1			118162691		0	ENSG00000173077	4304	g.chr9:118162691C>G	negative regulation of cell proliferation									12.570946	KEEP	3	8	-1	49	58	3	8	-1	28.554958	49	58	0.1	1	0	0	0	0	1	0	0	0	--	--		0	G			DEC1_uc004bjl.1_Intron	200	GBM-27-2521-TP	p.L23V	C	tgagggccttcttgccgtgtt	NM_017418	NP_059114	118162691	Q9P2X7	DEC1_HUMAN	0			6	586	+	G	G			Missense_Mutation	23						
A1BG	1	broad.mit.edu	GRCh37	19	58863692	58863692	+	synonymous_variant	Silent	SNP	G	G	A	rs138577019		TCGA-06-0744-01	TCGA-06-0744-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263100.3:c.570C>T	p.Gly190=	p.G190=	ENST00000263100	NM_130786.3	190	ggC/ggT	0	A:0.0002		1			A	G	uc002qsd.3	protein_coding	YES	CCDS12976.1			570/1488										0	c.(568-570)GGC>GGT			Gene3D:2.60.40.10,Pfam_domain:PF13895,PIRSF_domain:PIRSF001979,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF3,SMART_domains:SM00409,Superfamily_domains:SSF48726	alpha 1B-glycoprotein precursor			A:0	ENSP00000263100		8-Apr	1.65E-05	0.000194							rs138577019,COSM308725	8-Apr	.		ENST00000263100	Transcript				extracellular region		ENSG00000121410	g.chr19:58863692G>A	5			LOW								--	--	1																																		NCRNA00181_uc002qse.2_Intron|A1BG_uc002qsf.1_RNA|NCRNA00181_uc002qsg.2_RNA	0,1	1			p.G190G	NM_130786	NP_570602			0,1	A1BG_HUMAN	A1BG	HGNC	P04217	A1BG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)	Q7Z3U3_HUMAN		4	632	-		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)	UPI0000167B10	190			Ig-like V-type 2.		SNV	A1BG,synonymous_variant,p.=,ENST00000263100,NM_130786.3;A1BG,synonymous_variant,p.=,ENST00000600966,;ZNF497,downstream_gene_variant,,ENST00000311044,NM_198458.2;ZNF497,downstream_gene_variant,,ENST00000425453,NM_001207009.1;A1BG-AS1,non_coding_transcript_exon_variant,,ENST00000595302,;A1BG-AS1,intron_variant,,ENST00000594950,;A1BG-AS1,intron_variant,,ENST00000600686,;A1BG-AS1,intron_variant,,ENST00000593960,;A1BG-AS1,intron_variant,,ENST00000593374,;A1BG-AS1,intron_variant,,ENST00000600379,;A1BG-AS1,intron_variant,,ENST00000599728,;CTD-2619J13.8,non_coding_transcript_exon_variant,,ENST00000599109,;CTD-2619J13.8,non_coding_transcript_exon_variant,,ENST00000600123,;A1BG,upstream_gene_variant,,ENST00000596924,;CTD-2619J13.8,downstream_gene_variant,,ENST00000596636,;A1BG,non_coding_transcript_exon_variant,,ENST00000595014,;A1BG,upstream_gene_variant,,ENST00000598345,;	uc002qsd.3	c.570C>T	632/1722	2	2			c.570C>T						19	SNP	c.(568-570)GGC>GGT	42	42				0	Broad	alpha 1B-glycoprotein precursor			58863692		0.622	ENSG00000121410	1	g.chr19:58863692G>A		extracellular region								164.093651	KEEP	46	36	-1	89	75	46	36	-1	168.702409	89	75	0.327684	1	0	0	0	0	0	0	1	0	--	--		0	A			NCRNA00181_uc002qse.2_Intron|A1BG_uc002qsf.1_RNA|NCRNA00181_uc002qsg.2_RNA	66	GBM-06-0744-TP	p.G190G	G	CAGAGAGGGCGCCTTCCCCAT	NM_130786	NP_570602	58863692	P04217	A1BG_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)	4	632	-	A	A		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)	Silent	190			Ig-like V-type 2.			
A1BG	1	broad.mit.edu	GRCh37	19	58858802	58858802	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5411-01	TCGA-06-5411-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263100.3:c.1397G>A	p.Gly466Asp	p.G466D	ENST00000263100	NM_130786.3	466	gGc/gAc	0			1			T	G/D	uc002qsd.3	protein_coding	YES	CCDS12976.1			1397/1488										0	c.(1396-1398)GGC>GAC			Gene3D:2.60.40.10,Pfam_domain:PF13895,PIRSF_domain:PIRSF001979,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF3,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	alpha 1B-glycoprotein precursor				ENSP00000263100		8-Jul									COSM2153142	8-Jul	.		ENST00000263100	Transcript				extracellular region		ENSG00000121410	g.chr19:58858802C>T	5			MODERATE		3.33	medium	getma.org/?cm=msa&ty=f&p=A1BG_HUMAN&rb=402&re=492&var=G466D	getma.org/pdb.php?prot=A1BG_HUMAN&from=402&to=492&var=G466D	getma.org/?cm=var&var=hg19,19,58858802,C,T&fts=all	G466D	--	--	1																																		NCRNA00181_uc002qse.2_5'Flank	1	1		probably_damaging(0.997)	p.G466D	NM_130786	NP_570602		deleterious(0)	1	A1BG_HUMAN	A1BG	HGNC	P04217	A1BG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)	Q7Z3U3_HUMAN		7	1459	-		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)	UPI0000167B10	466			Ig-like V-type 5.		SNV	A1BG,missense_variant,p.Gly466Asp,ENST00000263100,NM_130786.3;A1BG,downstream_gene_variant,,ENST00000600966,;A1BG-AS1,upstream_gene_variant,,ENST00000595302,;A1BG-AS1,upstream_gene_variant,,ENST00000594950,;A1BG-AS1,upstream_gene_variant,,ENST00000600686,;A1BG-AS1,upstream_gene_variant,,ENST00000593960,;A1BG-AS1,upstream_gene_variant,,ENST00000593374,;A1BG-AS1,upstream_gene_variant,,ENST00000600379,;A1BG-AS1,upstream_gene_variant,,ENST00000599728,;A1BG,non_coding_transcript_exon_variant,,ENST00000596924,;CTD-2619J13.8,non_coding_transcript_exon_variant,,ENST00000600123,;CTD-2619J13.8,downstream_gene_variant,,ENST00000599109,;A1BG,non_coding_transcript_exon_variant,,ENST00000595014,;A1BG,non_coding_transcript_exon_variant,,ENST00000598345,;	uc002qsd.3	c.1397G>A	1459/1722	1	1			c.1397G>A						19	SNP	c.(1396-1398)GGC>GAC	4	4				0	Broad	alpha 1B-glycoprotein precursor			58858802		0.692	ENSG00000121410	1	g.chr19:58858802C>T		extracellular region								57.520376	KEEP	9	11	-1	14	14	9	11	-1	57.646785	14	14	0.44186	1	0	0	0	0	1	0	0	0	--	--		0	T			NCRNA00181_uc002qse.2_5'Flank	94	GBM-06-5411-TP	p.G466D	C	CCTGTAGTTGCCGGCGTGCTG	NM_130786	NP_570602	58858802	P04217	A1BG_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)	7	1459	-	T	T		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)	Missense_Mutation	466			Ig-like V-type 5.			
A1CF	0	broad.mit.edu	GRCh37	10	52566580	52566580	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-14-0813-01	TCGA-14-0813-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373993.1:c.1694C>A	p.Thr565Asn	p.T565N	ENST00000373993		565	aCc/aAc	0			1			T	T/N	uc001jjj.2	protein_coding		CCDS7242.1			1694/1785									central_nervous_system(1)	1	c.(1693-1695)ACC>AAC			TIGRFAM_domain:TIGR01648	apobec-1 complementation factor isoform 2				ENSP00000363105		11-Nov									COSM3397169,COSM3397168,COSM3397167	11-Nov	.		ENST00000373993	Transcript			cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	ENSG00000148584	g.chr10:52566580G>T	24086			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=A1CF_HUMAN&rb=537&re=594&var=T565N	NA	getma.org/?cm=var&var=hg19,10,52566580,G,T&fts=all	T565N	--	--	1																																		A1CF_uc010qhn.1_Missense_Mutation_p.T565N|A1CF_uc001jji.2_Missense_Mutation_p.T557N|A1CF_uc001jjh.2_Missense_Mutation_p.T565N|A1CF_uc010qho.1_Missense_Mutation_p.T573N|A1CF_uc009xov.2_Missense_Mutation_p.T557N	1,1,1			benign(0.282)	p.T565N	NM_138932	NP_620310		tolerated_low_confidence(0.08)	1,1,1	A1CF_HUMAN	A1CF	HGNC	Q9NQ94	A1CF_HUMAN			Q7Z2U9_HUMAN,Q5T0W7_HUMAN		13	1882	-			UPI0000071BDE	565					SNV	A1CF,missense_variant,p.Thr557Asn,ENST00000374001,;A1CF,missense_variant,p.Thr558Asn,ENST00000395489,NM_001198819.1;A1CF,missense_variant,p.Thr565Asn,ENST00000373995,NM_138933.2;A1CF,missense_variant,p.Thr565Asn,ENST00000282641,NM_138932.2;A1CF,missense_variant,p.Thr557Asn,ENST00000373997,NM_001198820.1,NM_001198818.1,NM_014576.3;A1CF,missense_variant,p.Thr565Asn,ENST00000373993,;A1CF,missense_variant,p.Thr510Asn,ENST00000395495,;ASAH2B,intron_variant,,ENST00000483649,;A1CF,downstream_gene_variant,,ENST00000493415,;	uc001jjj.2	c.1694C>A	1739/1997	2	2			c.1694C>A						10	SNP	c.(1693-1695)ACC>AAC	48	48			central_nervous_system(1)	1	Broad	apobec-1 complementation factor isoform 2			52566580		0.493	ENSG00000148584	2	g.chr10:52566580G>T	cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding							9.174631	KEEP	5	6	0.454545455	59	41	5	6	0.454545455	24.65037	59	41	0.102041	1	0	0	0	0	1	0	0	0	--	--		0	T			A1CF_uc010qhn.1_Missense_Mutation_p.T565N|A1CF_uc001jji.2_Missense_Mutation_p.T557N|A1CF_uc001jjh.2_Missense_Mutation_p.T565N|A1CF_uc010qho.1_Missense_Mutation_p.T573N|A1CF_uc009xov.2_Missense_Mutation_p.T557N	138	GBM-14-0813-TP	p.T565N	G	TTGTCCAAGGGTTACCGCTTG	NM_138932	NP_620310	52566580	Q9NQ94	A1CF_HUMAN	0			13	1882	-	T	T			Missense_Mutation	565						
A1CF	0	broad.mit.edu	GRCh37	10	52596064	52596064	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs148254279		TCGA-27-1833-01	TCGA-27-1833-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373993.1:c.374G>A	p.Arg125His	p.R125H	ENST00000373993		125	cGc/cAc	0	T:0.0002		1			T	R/H	uc001jjj.2	protein_coding		CCDS7242.1			374/1785									central_nervous_system(1)	1	c.(373-375)CGC>CAC			Gene3D:3.30.70.330,PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF313,SMART_domains:SM00360,Superfamily_domains:SSF54928,TIGRFAM_domain:TIGR01648	apobec-1 complementation factor isoform 2			T:0	ENSP00000363105		11-Apr	8.24E-06					1.51E-05			rs148254279,COSM3397172,COSM3397171,COSM3397170	11-Apr	.		ENST00000373993	Transcript			cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	ENSG00000148584	g.chr10:52596064C>T	24086			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=A1CF_HUMAN&rb=58&re=127&var=R125H	getma.org/pdb.php?prot=A1CF_HUMAN&from=58&to=127&var=R125H	getma.org/?cm=var&var=hg19,10,52596064,C,T&fts=all	R125H	--	--	1																																		A1CF_uc010qhn.1_Missense_Mutation_p.R133H|A1CF_uc001jji.2_Missense_Mutation_p.R125H|A1CF_uc001jjh.2_Missense_Mutation_p.R133H|A1CF_uc010qho.1_Missense_Mutation_p.R133H|A1CF_uc009xov.2_Missense_Mutation_p.R125H	0,1,1,1			probably_damaging(0.996)	p.R125H	NM_138932	NP_620310		deleterious(0.02)	0,1,1,1	A1CF_HUMAN	A1CF	HGNC	Q9NQ94	A1CF_HUMAN			Q7Z2U9_HUMAN,Q5T0W7_HUMAN		6	562	-			UPI0000071BDE	125			RRM 1.		SNV	A1CF,missense_variant,p.Arg125His,ENST00000374001,;A1CF,missense_variant,p.Arg118His,ENST00000395489,NM_001198819.1;A1CF,missense_variant,p.Arg133His,ENST00000373995,NM_138933.2;A1CF,missense_variant,p.Arg125His,ENST00000282641,NM_138932.2;A1CF,missense_variant,p.Arg125His,ENST00000373997,NM_001198820.1,NM_001198818.1,NM_014576.3;A1CF,missense_variant,p.Arg125His,ENST00000373993,;A1CF,missense_variant,p.Arg125His,ENST00000395495,;A1CF,missense_variant,p.Arg125His,ENST00000414883,;A1CF,non_coding_transcript_exon_variant,,ENST00000473480,;	uc001jjj.2	c.374G>A	419/1997	1	1			c.374G>A						10	SNP	c.(373-375)CGC>CAC	6	6			central_nervous_system(1)	1	Broad	apobec-1 complementation factor isoform 2			52596064		0.438	ENSG00000148584	2	g.chr10:52596064C>T	cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding							122.964554	KEEP	22	16	-1	12	11	22	16	-1	124.19804	12	11	0.655172	1	0	0	0	0	1	0	0	0	--	--		0	T			A1CF_uc010qhn.1_Missense_Mutation_p.R133H|A1CF_uc001jji.2_Missense_Mutation_p.R125H|A1CF_uc001jjh.2_Missense_Mutation_p.R133H|A1CF_uc010qho.1_Missense_Mutation_p.R133H|A1CF_uc009xov.2_Missense_Mutation_p.R125H	192	GBM-27-1833-TP	p.R125H	C	CCCTAAGAGGCGCCCATTTCT	NM_138932	NP_620310	52596064	Q9NQ94	A1CF_HUMAN	0			6	562	-	T	T			Missense_Mutation	125			RRM 1.			
A2M	2	broad.mit.edu	GRCh37	12	9254170	9254170	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0125-01	TCGA-06-0125-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318602.7:c.1367A>G	p.Lys456Arg	p.K456R	ENST00000318602	NM_000014.4	456	aAg/aGg	0			1			C	K/R	uc001qvk.1	protein_coding	YES	CCDS44827.1			1367/4425									central_nervous_system(4)|skin(1)	5	c.(1366-1368)AAG>AGG			hmmpanther:PTHR11412:SF75,hmmpanther:PTHR11412	alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)			ENSP00000323929		Dec-36									COSM3399179	Dec-36	.		ENST00000318602	Transcript			blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	ENSG00000175899	g.chr12:9254170T>C	7			MODERATE		0.835	low	getma.org/?cm=msa&ty=f&p=A2MG_HUMAN&rb=422&re=458&var=K456R	getma.org/pdb.php?prot=A2MG_HUMAN&from=422&to=458&var=K456R	getma.org/?cm=var&var=hg19,12,9254170,T,C&fts=all	K456R	--	--	1																																		A2M_uc009zgk.1_Missense_Mutation_p.K306R	1	1		benign(0.003)	p.K456R	NM_000014	NP_000005		tolerated(0.16)	1	A2MG_HUMAN	A2M	HGNC	P01023	A2MG_HUMAN			Q9BQ22_HUMAN,F8W7L3_HUMAN,F5H1E8_HUMAN		12	1480	-			UPI000014038F	456					SNV	A2M,missense_variant,p.Lys456Arg,ENST00000318602,NM_000014.4;A2M,non_coding_transcript_exon_variant,,ENST00000545828,;A2M,upstream_gene_variant,,ENST00000472360,;A2M,upstream_gene_variant,,ENST00000546069,;	uc001qvk.1	c.1367A>G	1675/4844	3	3			c.1367A>G						12	SNP	c.(1366-1368)AAG>AGG	64	64			central_nervous_system(4)|skin(1)	5	Broad	alpha-2-macroglobulin precursor		Bacitracin(DB00626)|Becaplermin(DB00102)	9254170		0.507	ENSG00000175899	4	g.chr12:9254170T>C	blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding							149.240406	KEEP	21	20	-1	15	12	21	20	-1	149.910916	15	12	0.609375	1	0	0	0	0	1	0	0	0	--	--		0	C			A2M_uc009zgk.1_Missense_Mutation_p.K306R	12	GBM-06-0125-TP	p.K456R	T	GACAAAGCTCTTGCTTGGGGA	NM_000014	NP_000005	9254170	P01023	A2MG_HUMAN	0			12	1480	-	C	C			Missense_Mutation	456						
A2M	0	broad.mit.edu	GRCh37	12	9230302	9230302	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-6695-01	TCGA-06-6695-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318602.7:c.3271A>G	p.Ile1091Val	p.I1091V	ENST00000318602	NM_000014.4	1091	Ata/Gta	0			1			C	I/V	uc001qvk.1	protein_coding	YES	CCDS44827.1			3271/4425									central_nervous_system(4)|skin(1)	5	c.(3271-3273)ATA>GTA			hmmpanther:PTHR11412:SF75,hmmpanther:PTHR11412,Pfam_domain:PF07678,Gene3D:1.50.10.20,Superfamily_domains:SSF48239	alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)			ENSP00000323929		26/36									COSM3399177	26/36	.		ENST00000318602	Transcript			blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	ENSG00000175899	g.chr12:9230302T>C	7			MODERATE		2.075	medium	getma.org/?cm=msa&ty=f&p=A2MG_HUMAN&rb=1010&re=1266&var=I1091V	getma.org/pdb.php?prot=A2MG_HUMAN&from=1010&to=1266&var=I1091V	getma.org/?cm=var&var=hg19,12,9230302,T,C&fts=all	I1091V	--	--	1																																		A2M_uc001qvj.1_Missense_Mutation_p.I133V|A2M_uc009zgk.1_Missense_Mutation_p.I941V	1	1		benign(0.314)	p.I1091V	NM_000014	NP_000005		deleterious(0.02)	1	A2MG_HUMAN	A2M	HGNC	P01023	A2MG_HUMAN			Q9BQ22_HUMAN,F8W7L3_HUMAN,F5H1E8_HUMAN		26	3384	-			UPI000014038F	1091					SNV	A2M,missense_variant,p.Ile1091Val,ENST00000318602,NM_000014.4;A2M,intron_variant,,ENST00000543436,;A2M,intron_variant,,ENST00000545828,;A2M,downstream_gene_variant,,ENST00000542567,;A2M,downstream_gene_variant,,ENST00000462568,;	uc001qvk.1	c.3271A>G	3579/4844	3	3			c.3271A>G						12	SNP	c.(3271-3273)ATA>GTA	5	5			central_nervous_system(4)|skin(1)	5	Broad	alpha-2-macroglobulin precursor		Bacitracin(DB00626)|Becaplermin(DB00102)	9230302		0.443	ENSG00000175899	4	g.chr12:9230302T>C	blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding							96.750846	KEEP	20	15	-1	27	20	20	15	-1	97.324925	27	20	0.405405	1	0	0	0	0	1	0	0	0	--	--		0	C			A2M_uc001qvj.1_Missense_Mutation_p.I133V|A2M_uc009zgk.1_Missense_Mutation_p.I941V	110	GBM-06-6695-TP	p.I1091V	T	TTCACCTTTATGGCATTGTTG	NM_000014	NP_000005	9230302	P01023	A2MG_HUMAN	0			26	3384	-	C	C			Missense_Mutation	1091						
A2M	0	broad.mit.edu	GRCh37	12	9251275	9251275	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318602.7:c.1779C>G	p.Ser593=	p.S593=	ENST00000318602	NM_000014.4	593	tcC/tcG	0			1			C	S	uc001qvk.1	protein_coding	YES	CCDS44827.1			1779/4425									central_nervous_system(4)|skin(1)	5	c.(1777-1779)TCC>TCG			hmmpanther:PTHR11412:SF75,hmmpanther:PTHR11412,Pfam_domain:PF07703	alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)			ENSP00000323929		15/36									COSM3399178	15/36	.		ENST00000318602	Transcript			blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	ENSG00000175899	g.chr12:9251275G>C	7			LOW								--	--	1																																		A2M_uc009zgk.1_Silent_p.S443S	1	1			p.S593S	NM_000014	NP_000005			1	A2MG_HUMAN	A2M	HGNC	P01023	A2MG_HUMAN			Q9BQ22_HUMAN,F8W7L3_HUMAN,F5H1E8_HUMAN		15	1892	-			UPI000014038F	593					SNV	A2M,synonymous_variant,p.=,ENST00000318602,NM_000014.4;A2M,intron_variant,,ENST00000545828,;A2M,non_coding_transcript_exon_variant,,ENST00000472360,;A2M,intron_variant,,ENST00000546069,;	uc001qvk.1	c.1779C>G	2087/4844	3	3			c.1779C>G						12	SNP	c.(1777-1779)TCC>TCG	51	51			central_nervous_system(4)|skin(1)	5	Broad	alpha-2-macroglobulin precursor		Bacitracin(DB00626)|Becaplermin(DB00102)	9251275		0.582	ENSG00000175899	4	g.chr12:9251275G>C	blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding							4.840119	KEEP	2	0	-1	8	12	2	0	-1	6.796488	8	12	0.133333	1	0	0	0	0	0	0	1	0	--	--		0	C			A2M_uc009zgk.1_Silent_p.S443S	160	GBM-19-1790-TP	p.S593S	G	GGGCGCAGACGGACTGAGGAG	NM_000014	NP_000005	9251275	P01023	A2MG_HUMAN	0			15	1892	-	C	C			Silent	593						
A2M	0	broad.mit.edu	GRCh37	12	9225468	9225468	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A			TCGA-41-2573-01	TCGA-41-2573-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318602.7:c.3757-1G>T		p.X1253_splice	ENST00000318602	NM_000014.4			0			1			A		uc001qvk.1	protein_coding	YES	CCDS44827.1			3757/4425									central_nervous_system(4)|skin(1)	5	c.e30-1				alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)			ENSP00000323929											COSM3399176		.		ENST00000318602	Transcript			blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	ENSG00000175899	g.chr12:9225468C>A	7			HIGH	29/35							--	--	1																																		A2M_uc001qvj.1_Splice_Site_p.D295_splice|A2M_uc009zgk.1_Splice_Site_p.D1103_splice	1	1			p.D1253_splice	NM_000014	NP_000005			1	A2MG_HUMAN	A2M	HGNC	P01023	A2MG_HUMAN			Q9BQ22_HUMAN,F8W7L3_HUMAN,F5H1E8_HUMAN		30	3870	-			UPI000014038F						SNV	A2M,splice_acceptor_variant,,ENST00000318602,NM_000014.4;A2M,intron_variant,,ENST00000543436,;A2M-AS1,downstream_gene_variant,,ENST00000499762,;A2M,intron_variant,,ENST00000545828,;A2M,downstream_gene_variant,,ENST00000542567,;A2M,upstream_gene_variant,,ENST00000495442,;A2M,upstream_gene_variant,,ENST00000495709,;	uc001qvk.1	c.3757_splice	-/4844	5	1			c.3757_splice						12	SNP	c.e30-1	49	49			central_nervous_system(4)|skin(1)	5	Broad	alpha-2-macroglobulin precursor		Bacitracin(DB00626)|Becaplermin(DB00102)	9225468		0.478	ENSG00000175899	4	g.chr12:9225468C>A	blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding							21.150184	KEEP	4	5	0.555555556	18	18	4	5	0.555555556	24.317429	18	18	0.214286	1	0	0	0	0	0	0	0	1	--	--		0	A			A2M_uc001qvj.1_Splice_Site_p.D295_splice|A2M_uc009zgk.1_Splice_Site_p.D1103_splice	252	GBM-41-2573-TP	p.D1253_splice	C	CCACTGTGTCCTGTTAGAGAC	NM_000014	NP_000005	9225468	P01023	A2MG_HUMAN	0			30	3870	-	A	A			Splice_Site							
AACS	65985	broad.mit.edu	GRCh37	12	125621257	125621257	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0216-01	TCGA-06-0216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316519.6:c.1728C>T	p.Asn576=	p.N576=	ENST00000316519	NM_023928.3	576	aaC/aaT	0			1			T	N	uc001uhc.2	protein_coding	YES	CCDS9263.1			1728/2019									ovary(1)|liver(1)|central_nervous_system(1)	3	c.(1726-1728)AAC>AAT			hmmpanther:PTHR24095,hmmpanther:PTHR24095:SF46,Gene3D:3.30.300.30,TIGRFAM_domain:TIGR01217,Superfamily_domains:SSF56801	acetoacetyl-CoA synthetase				ENSP00000324842		17/18									COSM2150896	17/18	.		ENST00000316519	Transcript			fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	ENSG00000081760	g.chr12:125621257C>T	21298			LOW								--	--	1																																		AACS_uc001uhd.2_Intron|AACS_uc009zyh.2_RNA|AACS_uc009zyi.2_Silent_p.N174N	1	1			p.N576N	NM_023928	NP_076417			1	AACS_HUMAN	AACS	HGNC	Q86V21	AACS_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	Q9H7A6_HUMAN,F5H6X9_HUMAN,F5H4V2_HUMAN,F5H3E3_HUMAN,F5GYN1_HUMAN		17	1934	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		UPI0000049787	576					SNV	AACS,synonymous_variant,p.=,ENST00000316519,NM_023928.3;AACS,synonymous_variant,p.=,ENST00000316543,;AACS,synonymous_variant,p.=,ENST00000536118,;AACS,synonymous_variant,p.=,ENST00000539251,;AACS,intron_variant,,ENST00000545511,;AACS,intron_variant,,ENST00000261686,;AACS,intron_variant,,ENST00000543665,;AACS,downstream_gene_variant,,ENST00000538851,;AACS,non_coding_transcript_exon_variant,,ENST00000398953,;	uc001uhc.2	c.1728C>T	1934/3316	1	1			c.1728C>T						12	SNP	c.(1726-1728)AAC>AAT	2	2			ovary(1)|liver(1)|central_nervous_system(1)	3	Broad	acetoacetyl-CoA synthetase			125621257		0.597	ENSG00000081760	9	g.chr12:125621257C>T	fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding							126.348115	KEEP	29	18	-1	49	28	29	18	-1	127.293975	49	28	0.401786	1	0	0	0	0	0	0	1	0	--	--		0	T			AACS_uc001uhd.2_Intron|AACS_uc009zyh.2_RNA|AACS_uc009zyi.2_Silent_p.N174N	51	GBM-06-0216-TP	p.N576N	C	CCCAGTATAACAAGTACAGGG	NM_023928	NP_076417	125621257	Q86V21	AACS_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	17	1934	+	T	T	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Silent	576						
AACS	0	broad.mit.edu	GRCh37	12	125591804	125591804	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-14-1825-01	TCGA-14-1825-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316519.6:c.905A>C	p.His302Pro	p.H302P	ENST00000316519	NM_023928.3	302	cAt/cCt	0			1			C	H/P	uc001uhc.2	protein_coding	YES	CCDS9263.1			905/2019									ovary(1)|liver(1)|central_nervous_system(1)	3	c.(904-906)CAT>CCT			hmmpanther:PTHR24095,hmmpanther:PTHR24095:SF46,Pfam_domain:PF00501,TIGRFAM_domain:TIGR01217,Gene3D:3.40.50.980,Superfamily_domains:SSF56801	acetoacetyl-CoA synthetase				ENSP00000324842		18-Aug									COSM3398508	18-Aug	.		ENST00000316519	Transcript			fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	ENSG00000081760	g.chr12:125591804A>C	21298			MODERATE		3.78	high	getma.org/?cm=msa&ty=f&p=AACS_HUMAN&rb=130&re=571&var=H302P	getma.org/pdb.php?prot=AACS_HUMAN&from=130&to=571&var=H302P	getma.org/?cm=var&var=hg19,12,125591804,A,C&fts=all	H302P	--	--	1																																		AACS_uc009zyg.2_RNA|AACS_uc001uhd.2_Missense_Mutation_p.H302P|AACS_uc009zyh.2_RNA|AACS_uc009zyi.2_5'UTR	1	1		probably_damaging(1)	p.H302P	NM_023928	NP_076417		deleterious(0)	1	AACS_HUMAN	AACS	HGNC	Q86V21	AACS_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	Q9H7A6_HUMAN,F5H6X9_HUMAN,F5H4V2_HUMAN,F5H3E3_HUMAN,F5GYN1_HUMAN		8	1111	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		UPI0000049787	302					SNV	AACS,missense_variant,p.His302Pro,ENST00000316519,NM_023928.3;AACS,missense_variant,p.His302Pro,ENST00000261686,;AACS,missense_variant,p.His121Pro,ENST00000441247,;AACS,missense_variant,p.His83Pro,ENST00000537564,;AACS,5_prime_UTR_variant,,ENST00000316543,;AACS,downstream_gene_variant,,ENST00000537477,;AACS,downstream_gene_variant,,ENST00000418937,;	uc001uhc.2	c.905A>C	1111/3316	3	3			c.905A>C						12	SNP	c.(904-906)CAT>CCT	9	9			ovary(1)|liver(1)|central_nervous_system(1)	3	Broad	acetoacetyl-CoA synthetase			125591804		0.607	ENSG00000081760	9	g.chr12:125591804A>C	fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding							105.150277	KEEP	19	17	-1	42	29	19	17	-1	107.218456	42	29	0.34375	1	0	0	0	0	1	0	0	0	--	--		0	C			AACS_uc009zyg.2_RNA|AACS_uc001uhd.2_Missense_Mutation_p.H302P|AACS_uc009zyh.2_RNA|AACS_uc009zyi.2_5'UTR	148	GBM-14-1825-TP	p.H302P	A	TGCATGGTGCATTCCGCTGGG	NM_023928	NP_076417	125591804	Q86V21	AACS_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	8	1111	+	C	C	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Missense_Mutation	302						
AACS	0	broad.mit.edu	GRCh37	12	125599073	125599073	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-27-1832-01	TCGA-27-1832-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316519.6:c.966C>A	p.Thr322=	p.T322=	ENST00000316519	NM_023928.3	322	acC/acA	0			1			A	T	uc001uhc.2	protein_coding	YES	CCDS9263.1			966/2019									ovary(1)|liver(1)|central_nervous_system(1)	3	c.(964-966)ACC>ACA			hmmpanther:PTHR24095,hmmpanther:PTHR24095:SF46,Pfam_domain:PF00501,TIGRFAM_domain:TIGR01217,Gene3D:3.40.50.980,Superfamily_domains:SSF56801	acetoacetyl-CoA synthetase				ENSP00000324842		18-Sep									COSM3398509	18-Sep	.		ENST00000316519	Transcript			fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	ENSG00000081760	g.chr12:125599073C>A	21298			LOW								--	--	1																																		AACS_uc001uhd.2_Silent_p.T322T|AACS_uc009zyh.2_RNA|AACS_uc009zyi.2_5'UTR	1	1			p.T322T	NM_023928	NP_076417			1	AACS_HUMAN	AACS	HGNC	Q86V21	AACS_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	Q9H7A6_HUMAN,F5H6X9_HUMAN,F5H4V2_HUMAN,F5H3E3_HUMAN,F5GYN1_HUMAN		9	1172	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		UPI0000049787	322					SNV	AACS,synonymous_variant,p.=,ENST00000316519,NM_023928.3;AACS,synonymous_variant,p.=,ENST00000261686,;AACS,synonymous_variant,p.=,ENST00000441247,;AACS,5_prime_UTR_variant,,ENST00000316543,;AACS,5_prime_UTR_variant,,ENST00000539251,;AACS,upstream_gene_variant,,ENST00000538851,;	uc001uhc.2	c.966C>A	1172/3316	2	2			c.966C>A						12	SNP	c.(964-966)ACC>ACA	18	18			ovary(1)|liver(1)|central_nervous_system(1)	3	Broad	acetoacetyl-CoA synthetase			125599073		0.607	ENSG00000081760	9	g.chr12:125599073C>A	fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding							43.904279	KEEP	9	11	0.55	33	35	9	11	0.55	48.721311	33	35	0.236842	1	0	0	0	0	0	0	1	0	--	--		0	A			AACS_uc001uhd.2_Silent_p.T322T|AACS_uc009zyh.2_RNA|AACS_uc009zyi.2_5'UTR	191	GBM-27-1832-TP	p.T322T	C	GCAACATGACCAGCAGTGACA	NM_023928	NP_076417	125599073	Q86V21	AACS_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	9	1172	+	A	A	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Silent	322						
AACS	0	broad.mit.edu	GRCh37	12	125609456	125609457	+	frameshift_variant	Frame_Shift_Del	DEL	CA	CA	-			TCGA-76-4926-01	TCGA-76-4926-01	CA	CA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316519.6:c.1197_1198delCA	p.His399GlnfsTer57	p.H399Qfs*57	ENST00000316519	NM_023928.3	399	CAc/c	0			1			-	H/X	uc001uhc.2	protein_coding	YES	CCDS9263.1			1195-1196/2019									ovary(1)|liver(1)|central_nervous_system(1)	3	c.(1195-1197)CACfs			hmmpanther:PTHR24095,hmmpanther:PTHR24095:SF46,Pfam_domain:PF00501,TIGRFAM_domain:TIGR01217,Gene3D:3.40.50.980,Superfamily_domains:SSF56801	acetoacetyl-CoA synthetase				ENSP00000324842		18-Dec									rs772435620	18-Dec	.		ENST00000316519	Transcript			fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	ENSG00000081760	g.chr12:125609456_125609457delCA	21298	2		HIGH								--	--	1																																		AACS_uc001uhd.2_Frame_Shift_Del_p.H399fs|AACS_uc009zyh.2_Intron|AACS_uc009zyi.2_5'UTR		1			p.H399fs	NM_023928	NP_076417				AACS_HUMAN	AACS	HGNC	Q86V21	AACS_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	Q9H7A6_HUMAN,F5H6X9_HUMAN,F5H4V2_HUMAN,F5H3E3_HUMAN,F5GYN1_HUMAN		12	1401_1402	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		UPI0000049787	399					deletion	AACS,frameshift_variant,p.His399GlnfsTer57,ENST00000316519,NM_023928.3;AACS,frameshift_variant,p.His399GlnfsTer57,ENST00000261686,;AACS,frameshift_variant,p.His218GlnfsTer?,ENST00000441247,;AACS,frameshift_variant,p.His64GlnfsTer57,ENST00000538851,;AACS,5_prime_UTR_variant,,ENST00000545511,;AACS,5_prime_UTR_variant,,ENST00000316543,;AACS,intron_variant,,ENST00000539251,;AACS,upstream_gene_variant,,ENST00000536118,;AACS,upstream_gene_variant,,ENST00000543665,;	uc001uhc.2	c.1195_1196delCA	1401-1402/3316	5	5			c.1195_1196delCA						12	DEL	c.(1195-1197)CACfs	13	13			ovary(1)|liver(1)|central_nervous_system(1)	3	Broad	acetoacetyl-CoA synthetase			125609457		0.505	ENSG00000081760	9	g.chr12:125609456_125609457delCA	fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding																				0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			AACS_uc001uhd.2_Frame_Shift_Del_p.H399fs|AACS_uc009zyh.2_Intron|AACS_uc009zyi.2_5'UTR	266	GBM-76-4926-TP	p.H399fs	CA	AGTGGAAACCCACAGTCTCCAG	NM_023928	NP_076417	125609456	Q86V21	AACS_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	12	1401_1402	+	-	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Frame_Shift_Del	399						
AADAC	13	broad.mit.edu	GRCh37	3	151532029	151532029	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01	TCGA-06-0195-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000232892.7:c.79G>A	p.Val27Ile	p.V27I	ENST00000232892	NM_001086.2	27	Gtt/Att	0			1			A	V/I	uc003eze.2	protein_coding	YES	CCDS33877.1			79/1200									skin(2)	2	c.(79-81)GTT>ATT			PIRSF_domain:PIRSF037251,hmmpanther:PTHR23024,hmmpanther:PTHR23024:SF97	arylacetamide deacetylase				ENSP00000232892		5-Jan	4.12E-05							0.000303	rs530863195,COSM3408353	5-Jan	.		ENST00000232892	Transcript			positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity	ENSG00000114771	g.chr3:151532029G>A	17			MODERATE		-1.12	neutral	getma.org/?cm=msa&ty=f&p=AAAD_HUMAN&rb=1&re=106&var=V27I	NA	getma.org/?cm=var&var=hg19,3,151532029,G,A&fts=all	V27I	--	--	1																																			0,1	1		benign(0)	p.V27I	NM_001086	NP_001077		tolerated(1)	0,1	AAAD_HUMAN	AADAC	HGNC	P22760	AAAD_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)				1	169	+		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	UPI000006D992	27			Lumenal (Potential).		SNV	AADAC,missense_variant,p.Val27Ile,ENST00000232892,NM_001086.2;AADAC,missense_variant,p.Val27Ile,ENST00000488869,;RP11-454C18.2,intron_variant,,ENST00000483843,;RP11-454C18.2,intron_variant,,ENST00000475855,;	uc003eze.2	c.79G>A	205/1642	2	2			c.79G>A						3	SNP	c.(79-81)GTT>ATT	29	29			skin(2)	2	Broad	arylacetamide deacetylase			151532029		0.408	ENSG00000114771	10	g.chr3:151532029G>A	positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity	Ovarian(30;839 841 2699 32801 46334)			Ovarian(30;839 841 2699 32801 46334)			227.984191	KEEP	49	36	-1	36	36	49	36	-1	228.080414	36	36	0.527397	1	0	0	0	0	1	0	0	0	--	--		0	A				45	GBM-06-0195-TP	p.V27I	G	CCCAGATAACGTTGAGGAGCC	NM_001086	NP_001077	151532029	P22760	AAAD_HUMAN	0	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		1	169	+	A	A		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	Missense_Mutation	27			Lumenal (Potential).			
AADAC	13		GRCh37	3	151545690	151545690	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000232892.7:c.930A>G	p.Lys310=	p.K310=	ENST00000232892	NM_001086.2	310	aaA/aaG	0																																																																																																																																																																																																																																												
AADACL2	344752	broad.mit.edu	GRCh37	3	151475174	151475174	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0879-01	TCGA-06-0879-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356517.3:c.998C>T	p.Thr333Ile	p.T333I	ENST00000356517	NM_207365.3	333	aCc/aTc	0			1			T	T/I	uc003ezc.2	protein_coding	YES	CCDS3161.2			998/1206										0	c.(997-999)ACC>ATC			hmmpanther:PTHR23024,hmmpanther:PTHR23024:SF104,Pfam_domain:PF07859,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF037251,Superfamily_domains:SSF53474	arylacetamide deacetylase-like 2 precursor				ENSP00000348911		5-May									COSM2152320,COSM2152319	5-May	.		ENST00000356517	Transcript				extracellular region|integral to membrane	carboxylesterase activity	ENSG00000197953	g.chr3:151475174C>T	24427			MODERATE		3.26	medium	getma.org/?cm=msa&ty=f&p=ADCL2_HUMAN&rb=271&re=375&var=T333I	getma.org/pdb.php?prot=ADCL2_HUMAN&from=271&to=375&var=T333I	getma.org/?cm=var&var=hg19,3,151475174,C,T&fts=all	T333I	--	--	1																																		AADACL2_uc010hvn.2_Missense_Mutation_p.T120I	1,1	1		probably_damaging(1)	p.T333I	NM_207365	NP_997248		deleterious(0)	1,1	ADCL2_HUMAN	AADACL2	HGNC	Q6P093	ADCL2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)				5	1118	+			UPI000015F144	333					SNV	AADACL2,missense_variant,p.Thr333Ile,ENST00000356517,NM_207365.3;RP11-454C18.2,intron_variant,,ENST00000483843,;RP11-454C18.2,intron_variant,,ENST00000475855,;AADACL2,3_prime_UTR_variant,,ENST00000445270,;RP11-64D22.1,downstream_gene_variant,,ENST00000489539,;	uc003ezc.2	c.998C>T	1107/1487	1	1			c.998C>T						3	SNP	c.(997-999)ACC>ATC	2	2				0	Broad	arylacetamide deacetylase-like 2 precursor			151475174		0.378	ENSG00000197953	11	g.chr3:151475174C>T		extracellular region|integral to membrane	carboxylesterase activity							254.690113	KEEP	46	51	-1	91	104	46	51	-1	261.76066	91	104	0.328413	1	0	0	0	0	1	0	0	0	--	--		0	T			AADACL2_uc010hvn.2_Missense_Mutation_p.T120I	75	GBM-06-0879-TP	p.T333I	C	TTGCCACTAACCTATATTCTT	NM_207365	NP_997248	151475174	Q6P093	ADCL2_HUMAN	0	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		5	1118	+	T	T			Missense_Mutation	333						
AADACL2	0	broad.mit.edu	GRCh37	3	151475339	151475339	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356517.3:c.1163G>A	p.Arg388Lys	p.R388K	ENST00000356517	NM_207365.3	388	aGg/aAg	0			1			A	R/K	uc003ezc.2	protein_coding	YES	CCDS3161.2			1163/1206										0	c.(1162-1164)AGG>AAG			hmmpanther:PTHR23024,hmmpanther:PTHR23024:SF104,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF037251,Superfamily_domains:SSF53474	arylacetamide deacetylase-like 2 precursor				ENSP00000348911		5-May									COSM3408352,COSM3408351	5-May	.		ENST00000356517	Transcript				extracellular region|integral to membrane	carboxylesterase activity	ENSG00000197953	g.chr3:151475339G>A	24427			MODERATE		0.935	low	getma.org/?cm=msa&ty=f&p=ADCL2_HUMAN&rb=346&re=401&var=R388K	NA	getma.org/?cm=var&var=hg19,3,151475339,G,A&fts=all	R388K	--	--	1																																		AADACL2_uc010hvn.2_Missense_Mutation_p.R175K	1,1	1		benign(0.007)	p.R388K	NM_207365	NP_997248		tolerated(0.19)	1,1	ADCL2_HUMAN	AADACL2	HGNC	Q6P093	ADCL2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)				5	1283	+			UPI000015F144	388					SNV	AADACL2,missense_variant,p.Arg388Lys,ENST00000356517,NM_207365.3;RP11-454C18.2,intron_variant,,ENST00000483843,;RP11-454C18.2,intron_variant,,ENST00000475855,;AADACL2,3_prime_UTR_variant,,ENST00000445270,;RP11-64D22.1,downstream_gene_variant,,ENST00000489539,;	uc003ezc.2	c.1163G>A	1272/1487	2	2			c.1163G>A						3	SNP	c.(1162-1164)AGG>AAG	18	18				0	Broad	arylacetamide deacetylase-like 2 precursor			151475339		0.328	ENSG00000197953	11	g.chr3:151475339G>A		extracellular region|integral to membrane	carboxylesterase activity							19.784097	KEEP	5	3	-1	16	13	5	3	-1	21.962044	16	13	0.235294	1	0	0	0	0	1	0	0	0	--	--		0	A			AADACL2_uc010hvn.2_Missense_Mutation_p.R175K	230	GBM-32-1979-TP	p.R388K	G	CTAGGTCTTAGGATAAGAGAT	NM_207365	NP_997248	151475339	Q6P093	ADCL2_HUMAN	0	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		5	1283	+	A	A			Missense_Mutation	388						
AADACL3	0	broad.mit.edu	GRCh37	1	12785683	12785683	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6282-01	TCGA-76-6282-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359318.5:c.773T>C	p.Val258Ala	p.V258A	ENST00000359318	NM_001103170.1	258	gTa/gCa	0			1			C	V/A	uc009vnn.1	protein_coding	YES	CCDS41253.1			773/1053										0	c.(772-774)GTA>GCA			hmmpanther:PTHR23024,hmmpanther:PTHR23024:SF107,Pfam_domain:PF07859	arylacetamide deacetylase-like 3 isoform 1				ENSP00000352268		4-Apr									COSM3399627,COSM3399626	4-Apr	.		ENST00000359318	Transcript					hydrolase activity	ENSG00000188984	g.chr1:12785683T>C	32037			MODERATE		-0.07	neutral	getma.org/?cm=msa&ty=f&p=ADCL3_HUMAN&rb=228&re=324&var=V258A	NA	getma.org/?cm=var&var=hg19,1,12785683,T,C&fts=all	V258A	--	--	1																																		AADACL3_uc001aug.1_Missense_Mutation_p.V188A	1,1	1		benign(0.002)	p.V258A	NM_001103170	NP_001096640		tolerated(0.22)	1,1	ADCL3_HUMAN	AADACL3	HGNC	Q5VUY0	ADCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)			4	1006	+	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	UPI00001611D0	258					SNV	AADACL3,missense_variant,p.Val188Ala,ENST00000332530,NM_001103169.1;AADACL3,missense_variant,p.Val258Ala,ENST00000359318,NM_001103170.1;	uc009vnn.1	c.773T>C	978/1258	3	3			c.773T>C						1	SNP	c.(772-774)GTA>GCA	61	61				0	Broad	arylacetamide deacetylase-like 3 isoform 1			12785683		0.502	ENSG00000188984	12	g.chr1:12785683T>C			hydrolase activity							114.830002	KEEP	15	20	-1	38	38	15	20	-1	117.585123	38	38	0.326923	1	0	0	0	0	1	0	0	0	--	--		0	C			AADACL3_uc001aug.1_Missense_Mutation_p.V188A	278	GBM-76-6282-TP	p.V258A	T	TACTTGGAAGTAAGTGTTGTC	NM_001103170	NP_001096640	12785683	Q5VUY0	ADCL3_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	4	1006	+	C	C	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	258						
AADACL4	343066	broad.mit.edu	GRCh37	1	12726313	12726313	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0129-01	TCGA-06-0129-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376221.1:c.791G>A	p.Arg264His	p.R264H	ENST00000376221	NM_001013630.1	264	cGt/cAt	0	A:0		1			A	R/H	uc001auf.2	protein_coding	YES	CCDS30590.1			791/1224										0	c.(790-792)CGT>CAT			hmmpanther:PTHR23024,hmmpanther:PTHR23024:SF95,PIRSF_domain:PIRSF037251,Superfamily_domains:SSF53474	arylacetamide deacetylase-like 4			A:0.0001	ENSP00000365395		4-Apr	2.47E-05	9.67E-05				3.00E-05			rs369427733,COSM1732216	4-Apr	.		ENST00000376221	Transcript				integral to membrane	carboxylesterase activity	ENSG00000204518	g.chr1:12726313G>A	32038			MODERATE		0.46	neutral	getma.org/?cm=msa&ty=f&p=ADCL4_HUMAN&rb=115&re=277&var=R264H	getma.org/pdb.php?prot=ADCL4_HUMAN&from=115&to=277&var=R264H	getma.org/?cm=var&var=hg19,1,12726313,G,A&fts=all	R264H	--	--	1																																			0,1	1		benign(0.022)	p.R264H	NM_001013630	NP_001013652		tolerated(0.16)	0,1	ADCL4_HUMAN	AADACL4	HGNC	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)			4	791	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	UPI0000160609	264			Lumenal (Potential).		SNV	AADACL4,missense_variant,p.Arg264His,ENST00000376221,NM_001013630.1;	uc001auf.2	c.791G>A	791/1575	2	2			c.791G>A						1	SNP	c.(790-792)CGT>CAT	33	33				0	Broad	arylacetamide deacetylase-like 4			12726313		0.498	ENSG00000204518	13	g.chr1:12726313G>A		integral to membrane	carboxylesterase activity							324.983389	KEEP	40	67	-1	66	58	40	67	-1	325.23165	66	58	0.464286	1	0	0	0	0	1	0	0	0	--	--		0	A				15	GBM-06-0129-TP	p.R264H	G	CTCTCCTGGCGTGACGCCATC	NM_001013630	NP_001013652	12726313	Q5VUY2	ADCL4_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	4	791	+	A	A	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	Missense_Mutation	264			Lumenal (Potential).			
AADACL4	0	broad.mit.edu	GRCh37	1	12726355	12726355	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-32-4211-01	TCGA-32-4211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376221.1:c.833G>A	p.Trp278Ter	p.W278*	ENST00000376221	NM_001013630.1	278	tGg/tAg	0			1			A	W/*	uc001auf.2	protein_coding	YES	CCDS30590.1			833/1224										0	c.(832-834)TGG>TAG			hmmpanther:PTHR23024,hmmpanther:PTHR23024:SF95,PIRSF_domain:PIRSF037251,Superfamily_domains:SSF53474	arylacetamide deacetylase-like 4				ENSP00000365395		4-Apr									COSM2157398	4-Apr	.		ENST00000376221	Transcript				integral to membrane	carboxylesterase activity	ENSG00000204518	g.chr1:12726355G>A	32038			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,12726355,G,A&fts=all	W278*	--	--	1																																			1	1			p.W278*	NM_001013630	NP_001013652			1	ADCL4_HUMAN	AADACL4	HGNC	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)			4	833	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	UPI0000160609	278			Lumenal (Potential).		SNV	AADACL4,stop_gained,p.Trp278Ter,ENST00000376221,NM_001013630.1;	uc001auf.2	c.833G>A	833/1575	5	1			c.833G>A						1	SNP	c.(832-834)TGG>TAG	64	64				0	Broad	arylacetamide deacetylase-like 4			12726355		0.532	ENSG00000204518	13	g.chr1:12726355G>A		integral to membrane	carboxylesterase activity							143.799855	KEEP	31	35	-1	86	100	31	35	-1	157.379048	86	100	0.243363	1	0	0	0	0	0	1	0	0	--	--		0	A				246	GBM-32-4211-TP	p.W278*	G	CCAGACGTCTGGAGGAAGTAC	NM_001013630	NP_001013652	12726355	Q5VUY2	ADCL4_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	4	833	+	A	A	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	Nonsense_Mutation	278			Lumenal (Potential).			
AAED1	0	broad.mit.edu	GRCh37	9	99413984	99413984	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-4157-01	TCGA-14-4157-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375234.3:c.272T>C	p.Val91Ala	p.V91A	ENST00000375234	NM_153698.1	91	gTc/gCc	0	G:0		1			G	V/A	uc004awm.2	protein_coding	YES	CCDS35073.1			272/681									large_intestine(1)	1	c.(271-273)GTC>GCC			Gene3D:3.40.30.10,Pfam_domain:PF13911,Superfamily_domains:SSF52833	hypothetical protein LOC195827			G:0.0001	ENSP00000364382		6-Mar	8.24E-06					1.50E-05			rs374719525,COSM3413862	6-Mar	.		ENST00000375234	Transcript					antioxidant activity|oxidoreductase activity	ENSG00000158122	g.chr9:99413984A>G	16881			MODERATE		2.545	medium	getma.org/?cm=msa&ty=f&p=CI021_HUMAN&rb=77&re=196&var=V91A	NA	getma.org/?cm=var&var=hg19,9,99413984,A,G&fts=all	V91A	--	--	1																																			0,1	1		possibly_damaging(0.79)	p.V91A	NM_153698	NP_714542		deleterious(0)	0,1	AAED1_HUMAN	AAED1	HGNC	Q7RTV5	CI021_HUMAN					3	308	-		Acute lymphoblastic leukemia(62;0.0559)	UPI0000160CAE	91					SNV	AAED1,missense_variant,p.Val91Ala,ENST00000375234,NM_153698.1;AAED1,missense_variant,p.Val45Ala,ENST00000446045,;AAED1,missense_variant,p.Val19Ala,ENST00000411939,;AAED1,non_coding_transcript_exon_variant,,ENST00000464512,;	uc004awm.2	c.272T>C	272/2863	3	3			c.272T>C						9	SNP	c.(271-273)GTC>GCC	3	3			large_intestine(1)	1	Broad	hypothetical protein LOC195827			99413984		0.313	ENSG00000158122	2424	g.chr9:99413984A>G			antioxidant activity|oxidoreductase activity							154.728681	KEEP	22	31	-1	39	36	22	31	-1	155.580937	39	36	0.40708	1	0	0	0	0	1	0	0	0	--	--		0	G				152	GBM-14-4157-TP	p.V91A	A	TATAAGGGTGACATTTGCTTC	NM_153698	NP_714542	99413984	Q7RTV5	CI021_HUMAN	0			3	308	-	G	G		Acute lymphoblastic leukemia(62;0.0559)	Missense_Mutation	91						
AAMDC	28971		GRCh37	11	77580777	77580777	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000526415.1:c.142G>A	p.Gly48Ser	p.G48S	ENST00000526415		48	Ggt/Agt	0																																																																																																																																																																																																																																												
AAMP	0	broad.mit.edu	GRCh37	2	219131281	219131281	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0615-01	TCGA-12-0615-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000248450.4:c.564C>T	p.Val188=	p.V188=	ENST00000248450		188	gtC/gtT	0			1			A	V	uc002vhk.2	protein_coding	YES	CCDS33378.1			564/1305									ovary(1)	1	c.(562-564)GTC>GTT			Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR19857:SF17,hmmpanther:PTHR19857,PROSITE_profiles:PS50294	angio-associated, migratory cell protein				ENSP00000248450		11-May									COSM2153535	11-May	.		ENST00000248450	Transcript			angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding	ENSG00000127837	g.chr2:219131281G>A	18			LOW								--	--	1																																		AAMP_uc002vhj.2_Silent_p.V169V|AAMP_uc010fvo.2_Silent_p.V188V|AAMP_uc002vhl.2_Silent_p.V189V	1	1			p.V188V	NM_001087	NP_001078			1	AAMP_HUMAN	AAMP	HGNC	Q13685	AAMP_HUMAN		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	C9JTS3_HUMAN		5	648	-		Renal(207;0.0474)	UPI0000209584	188			WD 3.		SNV	AAMP,synonymous_variant,p.=,ENST00000248450,;AAMP,synonymous_variant,p.=,ENST00000444053,NM_001087.3;AAMP,synonymous_variant,p.=,ENST00000420660,;AAMP,synonymous_variant,p.=,ENST00000447885,;PNKD,upstream_gene_variant,,ENST00000273077,NM_015488.4;GPBAR1,downstream_gene_variant,,ENST00000522678,NM_001077191.1;GPBAR1,downstream_gene_variant,,ENST00000479077,;GPBAR1,downstream_gene_variant,,ENST00000521462,;GPBAR1,downstream_gene_variant,,ENST00000519574,NM_170699.2,NM_001077194.1;PNKD,upstream_gene_variant,,ENST00000248451,NM_001077399.2;AAMP,upstream_gene_variant,,ENST00000422731,;PNKD,upstream_gene_variant,,ENST00000472650,;AAMP,non_coding_transcript_exon_variant,,ENST00000475678,;AAMP,non_coding_transcript_exon_variant,,ENST00000489767,;AAMP,non_coding_transcript_exon_variant,,ENST00000465442,;PNKD,upstream_gene_variant,,ENST00000469689,;AAMP,upstream_gene_variant,,ENST00000494720,;AAMP,downstream_gene_variant,,ENST00000461911,;	uc002vhk.2	c.564C>T	735/1882	1	1			c.564C>T						2	SNP	c.(562-564)GTC>GTT	49	49			ovary(1)	1	Broad	angio-associated, migratory cell protein			219131281		0.642	ENSG00000127837	17	g.chr2:219131281G>A	angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding							53.534014	KEEP	12	13	-1	29	23	12	13	-1	54.987843	29	23	0.327273	1	0	0	0	0	0	0	1	0	--	--		0	A			AAMP_uc002vhj.2_Silent_p.V169V|AAMP_uc010fvo.2_Silent_p.V188V|AAMP_uc002vhl.2_Silent_p.V189V	117	GBM-12-0615-TP	p.V188V	G	CCGCCAACAGGACAGGTGCCC	NM_001087	NP_001078	219131281	Q13685	AAMP_HUMAN	0		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	648	-	A	A		Renal(207;0.0474)	Silent	188			WD 3.			
AANAT	15	broad.mit.edu	GRCh37	17	74465812	74465812	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000250615.3:c.519C>T	p.Arg173=	p.R173=	ENST00000250615	NM_001166579.1	173	cgC/cgT	0		T:0	1	T:0.0029		T	R	uc002jro.2	protein_coding		CCDS11745.1			384/624										0	c.(382-384)CGC>CGT			Superfamily_domains:SSF55729,Gene3D:3.40.630.30,Pfam_domain:PF00583,hmmpanther:PTHR10908:SF0,hmmpanther:PTHR10908,PROSITE_profiles:PS51186	arylalkylamine N-acetyltransferase		T:0.001		ENSP00000376282	T:0	4-Apr	0.000845		0.00115	0.000703		0.000339	0.0051	0.016	rs200468284,COSM3403240,COSM3403239	4-Apr	common_variant		ENST00000392492	Transcript	1	T:0.0014	circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity	ENSG00000129673	g.chr17:74465812C>T	19			LOW								--	--	1																																		AANAT_uc010wte.1_RNA	0,1,1				p.R128R	NM_001088	NP_001079	T:0.0041		0,1,1	SNAT_HUMAN	AANAT	HGNC	Q16613	SNAT_HUMAN			Q9H3T0_HUMAN,Q9GZS4_HUMAN,F1T0I5_HUMAN		4	618	+			UPI0000135B1C	128			N-acetyltransferase.		SNV	AANAT,synonymous_variant,p.=,ENST00000250615,NM_001166579.1;AANAT,synonymous_variant,p.=,ENST00000392492,NM_001088.2;RHBDF2,downstream_gene_variant,,ENST00000591885,;RHBDF2,downstream_gene_variant,,ENST00000313080,NM_024599.5;RHBDF2,downstream_gene_variant,,ENST00000389760,NM_001005498.3;RHBDF2,downstream_gene_variant,,ENST00000591860,;AANAT,downstream_gene_variant,,ENST00000585649,;AANAT,3_prime_UTR_variant,,ENST00000587798,;RHBDF2,downstream_gene_variant,,ENST00000590168,;RHBDF2,downstream_gene_variant,,ENST00000589582,;	uc002jro.2	c.384C>T	618/1005	2	2			c.384C>T						17	SNP	c.(382-384)CGC>CGT	30	30				0	Broad	arylalkylamine N-acetyltransferase			74465812		0.701	ENSG00000129673	18	g.chr17:74465812C>T	circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity							23.396832	KEEP	3	5	-1	8	6	3	5	-1	23.500131	8	6	0.421053	1	0	0	0	0	0	0	1	0	--	--		0	T			AANAT_uc010wte.1_RNA	68	GBM-06-0747-TP	p.R128R	C	CCGTGCACCGCGCCTTCCGGC	NM_001088	NP_001079	74465812	Q16613	SNAT_HUMAN	0			4	618	+	T	T			Silent	128			N-acetyltransferase.			
AANAT	15		GRCh37	17	74465804	74465804	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000250615.3:c.511G>A	p.Val171Met	p.V171M	ENST00000250615	NM_001166579.1	171	Gtg/Atg	0																																																																																																																																																																																																																																												
AARS	0	broad.mit.edu	GRCh37	16	70310471	70310471	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-14-1825-01	TCGA-14-1825-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261772.8:c.397C>A	p.Leu133Ile	p.L133I	ENST00000261772	NM_001605.2	133	Ctt/Att	0			1			T	L/I	uc002eyn.1	protein_coding	YES	CCDS32474.1			397/2907									pancreas(1)	1	c.(397-399)CTT>ATT			PROSITE_profiles:PS50860,HAMAP:MF_00036_B,hmmpanther:PTHR11777,hmmpanther:PTHR11777:SF9,TIGRFAM_domain:TIGR00344,Gene3D:3.30.930.10,Pfam_domain:PF01411,Superfamily_domains:SSF55681	alanyl-tRNA synthetase	L-Alanine(DB00160)			ENSP00000261772		21-Apr									COSM3402446	21-Apr	.		ENST00000261772	Transcript	1		alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	ENSG00000090861	g.chr16:70310471G>T	20			MODERATE		2.385	medium	getma.org/?cm=msa&ty=f&p=SYAC_HUMAN&rb=9&re=597&var=L133I	getma.org/pdb.php?prot=SYAC_HUMAN&from=9&to=597&var=L133I	getma.org/?cm=var&var=hg19,16,70310471,G,T&fts=all	L133I	--	--	1																																			1	1		probably_damaging(0.999)	p.L133I	NM_001605	NP_001596		deleterious(0.01)	1	SYAC_HUMAN	AARS	HGNC	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)			4	507	-		Ovarian(137;0.0365)	UPI0000169F0B	133					SNV	AARS,missense_variant,p.Leu133Ile,ENST00000261772,NM_001605.2;RN7SL279P,downstream_gene_variant,,ENST00000582185,;	uc002eyn.1	c.397C>A	541/3477	2	2			c.397C>A						16	SNP	c.(397-399)CTT>ATT	44	44			pancreas(1)	1	Broad	alanyl-tRNA synthetase		L-Alanine(DB00160)	70310471		0.428	ENSG00000090861	19	g.chr16:70310471G>T	alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding							146.846312	KEEP	32	24	0.571428571	34	34	32	24	0.571428571	147.189629	34	34	0.440367	1	0	0	0	0	1	0	0	0	--	--		0	T				148	GBM-14-1825-TP	p.L133I	G	GTAACATAAAGTCTTTCAATG	NM_001605	NP_001596	70310471	P49588	SYAC_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.161)	4	507	-	T	T		Ovarian(137;0.0365)	Missense_Mutation	133						
AARS2	57505	broad.mit.edu	GRCh37	6	44270876	44270876	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000244571.4:c.2182del	p.Val728CysfsTer33	p.V728Cfs*33	ENST00000244571	NM_020745.3	728	Gtg/tg	0			1			-	V/X	uc010jza.1	protein_coding	YES	CCDS34464.1			2182/2958									ovary(1)	1	c.(2182-2184)GTGfs			HAMAP:MF_00036_B,Pfam_domain:PF07973,PROSITE_profiles:PS50860,hmmpanther:PTHR11777,hmmpanther:PTHR11777:SF8,Low_complexity_(Seg):seg,SMART_domains:SM00863,Superfamily_domains:SSF55186,TIGRFAM_domain:TIGR00344	alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)			ENSP00000244571		16/22										16/22	.		ENST00000244571	Transcript	1		alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	ENSG00000124608	g.chr6:44270876delC	21022			HIGH								--	--	1																																		SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron		1			p.V728fs	NM_020745	NP_065796				SYAM_HUMAN	AARS2	HGNC	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)				16	2185	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		UPI00001C1E5A	728					deletion	AARS2,frameshift_variant,p.Val728CysfsTer33,ENST00000244571,NM_020745.3;TMEM151B,intron_variant,,ENST00000438774,;AARS2,upstream_gene_variant,,ENST00000491573,;RP11-444E17.6,intron_variant,,ENST00000505802,;	uc010jza.1	c.2182delG	2185/3854	5	5			c.2182delG						6	DEL	c.(2182-2184)GTGfs	35	35			ovary(1)	1	Broad	alanyl-tRNA synthetase 2, mitochondrial		L-Alanine(DB00160)	44270876		0.602	ENSG00000124608	20	g.chr6:44270876delC	alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding																				0.13	1	1	0	1	0	0	0	0	0	--	--		0	-			SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	65	GBM-06-0743-TP	p.V728fs	C	GCCACGGGCACCCCCACTGAT	NM_020745	NP_065796	44270876	Q5JTZ9	SYAM_HUMAN	0	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		16	2185	-	-	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Frame_Shift_Del	728						
AARS2	0	broad.mit.edu	GRCh37	6	44268962	44268962	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-19-2623-01	TCGA-19-2623-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000244571.4:c.2724C>G	p.Pro908=	p.P908=	ENST00000244571	NM_020745.3	908	ccC/ccG	0			1			C	P	uc010jza.1	protein_coding	YES	CCDS34464.1			2724/2958									ovary(1)	1	c.(2722-2724)CCC>CCG			HAMAP:MF_00036_B,hmmpanther:PTHR11777,hmmpanther:PTHR11777:SF8,TIGRFAM_domain:TIGR00344	alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)			ENSP00000244571		21/22									COSM3411140	21/22	.		ENST00000244571	Transcript	1		alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	ENSG00000124608	g.chr6:44268962G>C	21022			LOW								--	--	1																																		SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	1	1			p.P908P	NM_020745	NP_065796			1	SYAM_HUMAN	AARS2	HGNC	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)				21	2727	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		UPI00001C1E5A	908					SNV	AARS2,synonymous_variant,p.=,ENST00000244571,NM_020745.3;TMEM151B,intron_variant,,ENST00000438774,;TCTE1,upstream_gene_variant,,ENST00000371505,NM_182539.3;TCTE1,upstream_gene_variant,,ENST00000371503,;AARS2,non_coding_transcript_exon_variant,,ENST00000491573,;RP11-444E17.6,intron_variant,,ENST00000505802,;	uc010jza.1	c.2724C>G	2727/3854	4	4			c.2724C>G						6	SNP	c.(2722-2724)CCC>CCG	45	45			ovary(1)	1	Broad	alanyl-tRNA synthetase 2, mitochondrial		L-Alanine(DB00160)	44268962		0.647	ENSG00000124608	20	g.chr6:44268962G>C	alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding							70.563154	KEEP	13	16	-1	32	33	13	16	-1	73.87252	32	33	0.289157	1	0	0	0	0	0	0	1	0	--	--		0	C			SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	163	GBM-19-2623-TP	p.P908P	G	CAGACGTGCTGGGGGCCTGCT	NM_020745	NP_065796	44268962	Q5JTZ9	SYAM_HUMAN	0	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		21	2727	-	C	C	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Silent	908						
AASDH	0	broad.mit.edu	GRCh37	4	57220268	57220269	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	rs148777026		TCGA-12-0692-01	TCGA-12-0692-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000205214.6:c.1319dupT	p.Leu440PhefsTer16	p.L440Ffs*16	ENST00000205214	NM_181806.2	440	ttg/ttTg	0			1			A	L/FX	uc003hbn.2	protein_coding	YES	CCDS3504.1			1319-1320/3297									ovary(4)	4	c.(1318-1320)TTGfs			Superfamily_domains:SSF56801,Pfam_domain:PF00501,hmmpanther:PTHR24095:SF43,hmmpanther:PTHR24095	aminoadipate-semialdehyde dehydrogenase				ENSP00000205214		15-Aug									rs774043410	15-Aug	.		ENST00000205214	Transcript			fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	ENSG00000157426	g.chr4:57220268_57220269insA	23993			HIGH								--	--	1																																		AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Frame_Shift_Ins_p.L287fs|AASDH_uc003hbo.2_Frame_Shift_Ins_p.L340fs|AASDH_uc011cab.1_Intron|AASDH_uc010ihc.2_Frame_Shift_Ins_p.L440fs|AASDH_uc003hbp.2_Frame_Shift_Ins_p.L440fs		1			p.L440fs	NM_181806	NP_861522				ACSF4_HUMAN	AASDH	HGNC	Q4L235	ACSF4_HUMAN			G3V0G4_HUMAN		8	1472_1473	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	UPI000020B8EF	440					insertion	AASDH,frameshift_variant,p.Leu440PhefsTer16,ENST00000205214,NM_181806.2;AASDH,frameshift_variant,p.Leu340PhefsTer16,ENST00000513376,NM_001286669.1,NM_001286668.1;AASDH,frameshift_variant,p.Leu440PhefsTer16,ENST00000451613,NM_001286671.1;AASDH,frameshift_variant,p.Leu440PhefsTer16,ENST00000502617,NM_001286672.1;AASDH,frameshift_variant,p.Leu287PhefsTer16,ENST00000602986,;AASDH,intron_variant,,ENST00000434343,NM_001286670.1;AASDH,downstream_gene_variant,,ENST00000510762,;AASDH,3_prime_UTR_variant,,ENST00000503808,;AASDH,intron_variant,,ENST00000514745,NM_001286670.1;RPL7AP31,upstream_gene_variant,,ENST00000470544,;	uc003hbn.2	c.1319_1320insT	1500-1501/3590	5	5			c.1319_1320insT						4	INS	c.(1318-1320)TTGfs	59	59			ovary(4)	4	Broad	aminoadipate-semialdehyde dehydrogenase			57220269		0.361	ENSG00000157426	22	g.chr4:57220268_57220269insA	fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding																				0.09	1	0	0	1	1	0	0	0	0	--	--		0	A			AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Frame_Shift_Ins_p.L287fs|AASDH_uc003hbo.2_Frame_Shift_Ins_p.L340fs|AASDH_uc011cab.1_Intron|AASDH_uc010ihc.2_Frame_Shift_Ins_p.L440fs|AASDH_uc003hbp.2_Frame_Shift_Ins_p.L440fs	122	GBM-12-0692-TP	p.L440fs	-	CTTTTCGTCCCAAAAAAAAAAT	NM_181806	NP_861522	57220268	Q4L235	ACSF4_HUMAN	0			8	1472_1473	-	A	A	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	Frame_Shift_Ins	440						
AASDH	0	broad.mit.edu	GRCh37	4	57220268	57220268	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-28-2509-01	TCGA-28-2509-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000205214.6:c.1320G>T	p.Leu440Phe	p.L440F	ENST00000205214	NM_181806.2	440	ttG/ttT	0			1			A	L/F	uc003hbn.2	protein_coding	YES	CCDS3504.1			1320/3297									ovary(4)	4	c.(1318-1320)TTG>TTT			Superfamily_domains:SSF56801,Pfam_domain:PF00501,hmmpanther:PTHR24095:SF43,hmmpanther:PTHR24095	aminoadipate-semialdehyde dehydrogenase				ENSP00000205214		15-Aug									COSM3409377,COSM3409378	15-Aug	.		ENST00000205214	Transcript			fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	ENSG00000157426	g.chr4:57220268C>A	23993			MODERATE		2.44	medium	getma.org/?cm=msa&ty=f&p=ACSF4_HUMAN&rb=34&re=474&var=L440F	getma.org/pdb.php?prot=ACSF4_HUMAN&from=34&to=474&var=L440F	getma.org/?cm=var&var=hg19,4,57220268,C,A&fts=all	L440F	--	--	1																																		AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Missense_Mutation_p.L287F|AASDH_uc003hbo.2_Missense_Mutation_p.L340F|AASDH_uc011cab.1_Intron|AASDH_uc010ihc.2_Missense_Mutation_p.L440F|AASDH_uc003hbp.2_Missense_Mutation_p.L440F	1,1	1		probably_damaging(0.949)	p.L440F	NM_181806	NP_861522		deleterious(0)	1,1	ACSF4_HUMAN	AASDH	HGNC	Q4L235	ACSF4_HUMAN			G3V0G4_HUMAN		8	1473	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	UPI000020B8EF	440					SNV	AASDH,missense_variant,p.Leu440Phe,ENST00000205214,NM_181806.2;AASDH,missense_variant,p.Leu340Phe,ENST00000513376,NM_001286669.1,NM_001286668.1;AASDH,missense_variant,p.Leu440Phe,ENST00000451613,NM_001286671.1;AASDH,missense_variant,p.Leu440Phe,ENST00000502617,NM_001286672.1;AASDH,missense_variant,p.Leu287Phe,ENST00000602986,;AASDH,intron_variant,,ENST00000434343,NM_001286670.1;AASDH,downstream_gene_variant,,ENST00000510762,;AASDH,3_prime_UTR_variant,,ENST00000503808,;AASDH,intron_variant,,ENST00000514745,NM_001286670.1;RPL7AP31,upstream_gene_variant,,ENST00000470544,;	uc003hbn.2	c.1320G>T	1501/3590	1	1			c.1320G>T						4	SNP	c.(1318-1320)TTG>TTT	59	59			ovary(4)	4	Broad	aminoadipate-semialdehyde dehydrogenase			57220268		0.363	ENSG00000157426	22	g.chr4:57220268C>A	fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding							-17.198216	KEEP	3	1	0.25	60	63	3	1	0.25	7.320397	60	63	0.037736	1	0	0	0	0	1	0	0	0	--	--		0	A			AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Missense_Mutation_p.L287F|AASDH_uc003hbo.2_Missense_Mutation_p.L340F|AASDH_uc011cab.1_Intron|AASDH_uc010ihc.2_Missense_Mutation_p.L440F|AASDH_uc003hbp.2_Missense_Mutation_p.L440F	211	GBM-28-2509-TP	p.L440F	C	CTTTTCGTCCCAAAAAAAAAA	NM_181806	NP_861522	57220268	Q4L235	ACSF4_HUMAN	0			8	1473	-	A	A	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	Missense_Mutation	440						
AASDH	0	broad.mit.edu	GRCh37	4	57237647	57237647	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-76-4932-01	TCGA-76-4932-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000205214.6:c.831C>G	p.Leu277=	p.L277=	ENST00000205214	NM_181806.2	277	ctC/ctG	0			1			C	L	uc003hbn.2	protein_coding	YES	CCDS3504.1			831/3297									ovary(4)	4	c.(829-831)CTC>CTG			Superfamily_domains:SSF56801,Gene3D:3.40.50.980,Pfam_domain:PF00501,hmmpanther:PTHR24095:SF43,hmmpanther:PTHR24095	aminoadipate-semialdehyde dehydrogenase				ENSP00000205214		15-May									COSM3409379,COSM3409380	15-May	.		ENST00000205214	Transcript			fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	ENSG00000157426	g.chr4:57237647G>C	23993			LOW								--	--	1																																		AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Silent_p.L124L|AASDH_uc003hbo.2_Silent_p.L177L|AASDH_uc011cab.1_5'UTR|AASDH_uc010ihc.2_Silent_p.L277L|AASDH_uc003hbp.2_Silent_p.L277L	1,1	1			p.L277L	NM_181806	NP_861522			1,1	ACSF4_HUMAN	AASDH	HGNC	Q4L235	ACSF4_HUMAN			G3V0G4_HUMAN		5	984	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	UPI000020B8EF	277					SNV	AASDH,synonymous_variant,p.=,ENST00000205214,NM_181806.2;AASDH,synonymous_variant,p.=,ENST00000513376,NM_001286669.1,NM_001286668.1;AASDH,synonymous_variant,p.=,ENST00000451613,NM_001286671.1;AASDH,synonymous_variant,p.=,ENST00000502617,NM_001286672.1;AASDH,synonymous_variant,p.=,ENST00000602986,;AASDH,5_prime_UTR_variant,,ENST00000434343,NM_001286670.1;AASDH,intron_variant,,ENST00000510762,;AASDH,3_prime_UTR_variant,,ENST00000514745,NM_001286670.1;AASDH,3_prime_UTR_variant,,ENST00000503808,;	uc003hbn.2	c.831C>G	1012/3590	3	3			c.831C>G						4	SNP	c.(829-831)CTC>CTG	54	54			ovary(4)	4	Broad	aminoadipate-semialdehyde dehydrogenase			57237647		0.353	ENSG00000157426	22	g.chr4:57237647G>C	fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding							70.029372	KEEP	16	14	-1	54	63	16	14	-1	79.870679	54	63	0.201681	1	0	0	0	0	0	0	1	0	--	--		0	C			AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Silent_p.L124L|AASDH_uc003hbo.2_Silent_p.L177L|AASDH_uc011cab.1_5'UTR|AASDH_uc010ihc.2_Silent_p.L277L|AASDH_uc003hbp.2_Silent_p.L277L	271	GBM-76-4932-TP	p.L277L	G	GATGGGAAAAGAGAACGCTGG	NM_181806	NP_861522	57237647	Q4L235	ACSF4_HUMAN	0			5	984	-	C	C	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	Silent	277						
AASS	10157	broad.mit.edu	GRCh37	7	121717919	121717920	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	rs147476318	by1000genomes	TCGA-02-0003-01	TCGA-02-0003-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393376.1:c.2634dup	p.Ala879ArgfsTer9	p.A879Rfs*9	ENST00000393376		878	-/C	0			1			G	-/X	uc003vka.2	protein_coding	YES	CCDS5783.1			2634-2635/2781									upper_aerodigestive_tract(1)|ovary(1)	2	c.(2632-2637)ACCGCCfs			Pfam_domain:PF03435,hmmpanther:PTHR11133,hmmpanther:PTHR11133:SF11	aminoadipate-semialdehyde synthase precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)			ENSP00000377040		22/23									rs147476318	22/23	.		ENST00000393376	Transcript	1		protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	ENSG00000008311	g.chr7:121717919_121717920insG	17366			HIGH								--	--	1																																		AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Frame_Shift_Ins_p.T878fs|AASS_uc011knw.1_Frame_Shift_Ins_p.T366fs		1			p.T878fs	NM_005763	NP_005754				AASS_HUMAN	AASS	HGNC	Q9UDR5	AASS_HUMAN			A4D0W4_HUMAN		22	2730_2731	-			UPI000004A105	878_879			Saccharopine dehydrogenase.		insertion	AASS,frameshift_variant,p.Ala879ArgfsTer9,ENST00000393376,;AASS,frameshift_variant,p.Ala879ArgfsTer9,ENST00000417368,NM_005763.3;RNU7-154P,upstream_gene_variant,,ENST00000516194,;AASS,non_coding_transcript_exon_variant,,ENST00000473553,;AASS,3_prime_UTR_variant,,ENST00000358954,;AASS,3_prime_UTR_variant,,ENST00000431170,;AASS,3_prime_UTR_variant,,ENST00000426162,;AASS,non_coding_transcript_exon_variant,,ENST00000460376,;	uc003vka.2	c.2634_2635insC	2730-2731/3233	5	5			c.2634_2635insC						7	INS	c.(2632-2637)ACCGCCfs	64	64			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	aminoadipate-semialdehyde synthase precursor		L-Glutamic Acid(DB00142)|NADH(DB00157)	121717920		0.46	ENSG00000008311	24	g.chr7:121717919_121717920insG	protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity																				0.02	1	0	0	1	1	0	0	0	0	--	--		0	G			AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Frame_Shift_Ins_p.T878fs|AASS_uc011knw.1_Frame_Shift_Ins_p.T366fs	1	GBM-02-0003-TP	p.T878fs	-	GCTGCCATGGCGGTGGGTAACC	NM_005763	NP_005754	121717919	Q9UDR5	AASS_HUMAN	0			22	2730_2731	-	G	G			Frame_Shift_Ins	878_879			Saccharopine dehydrogenase.			
AASS	10157	broad.mit.edu	GRCh37	7	121756793	121756793	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0189-01	TCGA-06-0189-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393376.1:c.788C>T	p.Thr263Met	p.T263M	ENST00000393376		263	aCg/aTg	0			1			A	T/M	uc003vka.2	protein_coding	YES	CCDS5783.1			788/2781									upper_aerodigestive_tract(1)|ovary(1)	2	c.(787-789)ACG>ATG			Pfam_domain:PF01262,hmmpanther:PTHR11133,hmmpanther:PTHR11133:SF11,SMART_domains:SM01002	aminoadipate-semialdehyde synthase precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)			ENSP00000377040		23-Jul	2.47E-05			0.000116		1.50E-05		6.06E-05	rs746536178,COSM452230	23-Jul	.		ENST00000393376	Transcript	1		protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	ENSG00000008311	g.chr7:121756793G>A	17366			MODERATE		2.515	medium	getma.org/?cm=msa&ty=f&p=AASS_HUMAN&rb=197&re=399&var=T263M	NA	getma.org/?cm=var&var=hg19,7,121756793,G,A&fts=all	T263M	--	--	1																																		AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.T263M|AASS_uc011knw.1_Intron	0,1	1		probably_damaging(0.999)	p.T263M	NM_005763	NP_005754		deleterious(0)	0,1	AASS_HUMAN	AASS	HGNC	Q9UDR5	AASS_HUMAN			A4D0W4_HUMAN		7	884	-			UPI000004A105	263			Lysine-ketoglutarate reductase.		SNV	AASS,missense_variant,p.Thr263Met,ENST00000393376,;AASS,missense_variant,p.Thr263Met,ENST00000417368,NM_005763.3;AASS,intron_variant,,ENST00000473553,;AASS,missense_variant,p.Thr263Met,ENST00000358954,;AASS,missense_variant,p.Thr263Met,ENST00000431170,;	uc003vka.2	c.788C>T	884/3233	2	2			c.788C>T						7	SNP	c.(787-789)ACG>ATG	28	28			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	aminoadipate-semialdehyde synthase precursor		L-Glutamic Acid(DB00142)|NADH(DB00157)	121756793		0.353	ENSG00000008311	24	g.chr7:121756793G>A	protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity							5.163897	KEEP	3	10	-1	64	47	3	10	-1	23.207362	64	47	0.092593	1	0	0	0	0	1	0	0	0	--	--		0	A			AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.T263M|AASS_uc011knw.1_Intron	42	GBM-06-0189-TP	p.T263M	G	ACTTAACACCGTCCCATACAC	NM_005763	NP_005754	121756793	Q9UDR5	AASS_HUMAN	0			7	884	-	A	A			Missense_Mutation	263			Lysine-ketoglutarate reductase.			
AASS	10157	broad.mit.edu	GRCh37	7	121773679	121773679	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393376.1:c.102C>T	p.Asn34=	p.N34=	ENST00000393376		34	aaC/aaT	0			1			A	N	uc003vka.2	protein_coding	YES	CCDS5783.1			102/2781									upper_aerodigestive_tract(1)|ovary(1)	2	c.(100-102)AAC>AAT			Gene3D:3.40.50.1770,Pfam_domain:PF05222,hmmpanther:PTHR11133,hmmpanther:PTHR11133:SF11,SMART_domains:SM01003,Superfamily_domains:SSF52283	aminoadipate-semialdehyde synthase precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)			ENSP00000377040		23-Jan	4.12E-05	9.61E-05	0.000346						rs777413121,COSM3411527	23-Jan	.		ENST00000393376	Transcript	1		protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	ENSG00000008311	g.chr7:121773679G>A	17366			LOW								--	--	1																																		AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Silent_p.N34N|AASS_uc011knw.1_Intron	0,1	1			p.N34N	NM_005763	NP_005754			0,1	AASS_HUMAN	AASS	HGNC	Q9UDR5	AASS_HUMAN			A4D0W4_HUMAN		1	198	-			UPI000004A105	34			Lysine-ketoglutarate reductase.		SNV	AASS,synonymous_variant,p.=,ENST00000393376,;AASS,synonymous_variant,p.=,ENST00000417368,NM_005763.3;AASS,intron_variant,,ENST00000473553,;AASS,synonymous_variant,p.=,ENST00000358954,;AASS,synonymous_variant,p.=,ENST00000431170,;	uc003vka.2	c.102C>T	198/3233	1	1			c.102C>T						7	SNP	c.(100-102)AAC>AAT	49	49			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	aminoadipate-semialdehyde synthase precursor		L-Glutamic Acid(DB00142)|NADH(DB00157)	121773679		0.582	ENSG00000008311	24	g.chr7:121773679G>A	protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity							272.137426	KEEP	41	57	-1	67	89	41	57	-1	274.880802	67	89	0.385892	1	0	0	0	0	0	0	1	0	--	--		0	A			AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Silent_p.N34N|AASS_uc011knw.1_Intron	102	GBM-06-5858-TP	p.N34N	G	TCTCCCAGGCGTTCACATCCT	NM_005763	NP_005754	121773679	Q9UDR5	AASS_HUMAN	0			1	198	-	A	A			Silent	34			Lysine-ketoglutarate reductase.			
AASS	0	broad.mit.edu	GRCh37	7	121717919	121717920	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	rs147476318	by1000genomes	TCGA-16-0861-01	TCGA-16-0861-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393376.1:c.2634dupC	p.Ala879ArgfsTer9	p.A879Rfs*9	ENST00000393376		878	-/C	0			1			G	-/X	uc003vka.2	protein_coding	YES	CCDS5783.1			2634-2635/2781									upper_aerodigestive_tract(1)|ovary(1)	2	c.(2632-2637)ACCGCCfs			Pfam_domain:PF03435,hmmpanther:PTHR11133,hmmpanther:PTHR11133:SF11	aminoadipate-semialdehyde synthase precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)			ENSP00000377040		22/23									rs147476318	22/23	.		ENST00000393376	Transcript	1		protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	ENSG00000008311	g.chr7:121717919_121717920insG	17366			HIGH								--	--	1																																		AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Frame_Shift_Ins_p.T878fs|AASS_uc011knw.1_Frame_Shift_Ins_p.T366fs		1			p.T878fs	NM_005763	NP_005754				AASS_HUMAN	AASS	HGNC	Q9UDR5	AASS_HUMAN			A4D0W4_HUMAN		22	2730_2731	-			UPI000004A105	878_879			Saccharopine dehydrogenase.		insertion	AASS,frameshift_variant,p.Ala879ArgfsTer9,ENST00000393376,;AASS,frameshift_variant,p.Ala879ArgfsTer9,ENST00000417368,NM_005763.3;RNU7-154P,upstream_gene_variant,,ENST00000516194,;AASS,non_coding_transcript_exon_variant,,ENST00000473553,;AASS,3_prime_UTR_variant,,ENST00000358954,;AASS,3_prime_UTR_variant,,ENST00000431170,;AASS,3_prime_UTR_variant,,ENST00000426162,;AASS,non_coding_transcript_exon_variant,,ENST00000460376,;	uc003vka.2	c.2634_2635insC	2730-2731/3233	5	5			c.2634_2635insC						7	INS	c.(2632-2637)ACCGCCfs	64	64			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	aminoadipate-semialdehyde synthase precursor		L-Glutamic Acid(DB00142)|NADH(DB00157)	121717920		0.46	ENSG00000008311	24	g.chr7:121717919_121717920insG	protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity																				0.02	1	0	0	1	1	0	0	0	0	--	--		0	G			AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Frame_Shift_Ins_p.T878fs|AASS_uc011knw.1_Frame_Shift_Ins_p.T366fs	156	GBM-16-0861-TP	p.T878fs	-	GCTGCCATGGCGGTGGGTAACC	NM_005763	NP_005754	121717919	Q9UDR5	AASS_HUMAN	0			22	2730_2731	-	G	G			Frame_Shift_Ins	878_879			Saccharopine dehydrogenase.			
ABC7-42389800N19.1			GRCh37	12	90902	90902	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000400706.3:n.1501C>T		p.*501*	ENST00000400706				0																																																																																																																																																																																																																																												
ABCA1	0	broad.mit.edu	GRCh37	9	107555100	107555100	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-14-0740-01	TCGA-14-0740-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374736.3:c.5724G>C	p.Gln1908His	p.Q1908H	ENST00000374736	NM_005502.3	1908	caG/caC	0			1			G	Q/H	uc004bcl.2	protein_coding	YES	CCDS6762.1			5724/6786									large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17	c.(5722-5724)CAG>CAC			hmmpanther:PTHR19229:SF34,hmmpanther:PTHR19229	ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)			ENSP00000363868		42/50									COSM3413221	42/50	.		ENST00000374736	Transcript	1		Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	ENSG00000165029	g.chr9:107555100C>G	29			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=ABCA1_HUMAN&rb=1870&re=1952&var=Q1908H	getma.org/pdb.php?prot=ABCA1_HUMAN&from=1870&to=1952&var=Q1908H	getma.org/?cm=var&var=hg19,9,107555100,C,G&fts=all	Q1908H	--	--	1																																			1	1		benign(0.005)	p.Q1908H	NM_005502	NP_005493		tolerated(0.2)	1	ABCA1_HUMAN	ABCA1	HGNC	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	Q9NS76_HUMAN,Q9NP93_HUMAN,Q9H002_HUMAN		42	6037	-			UPI000013E441	1908					SNV	ABCA1,missense_variant,p.Gln1908His,ENST00000374736,NM_005502.3;	uc004bcl.2	c.5724G>C	6119/10494	4	4			c.5724G>C						9	SNP	c.(5722-5724)CAG>CAC	17	17			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17	Broad	ATP-binding cassette, sub-family A member 1		Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	107555100		0.423	ENSG00000165029	28	g.chr9:107555100C>G	Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding							43.019726	KEEP	9	7	-1	16	27	9	7	-1	45.568512	16	27	0.272727	1	0	0	0	0	1	0	0	0	--	--		0	G				132	GBM-14-0740-TP	p.Q1908H	C	AGATGTCATTCTGGCCTCCAC	NM_005502	NP_005493	107555100	O95477	ABCA1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(323;0.023)	42	6037	-	G	G			Missense_Mutation	1908						
ABCA10	10349	broad.mit.edu	GRCh37	17	67148603	67148603	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0644-01	TCGA-06-0644-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269081.4:c.4156G>A	p.Val1386Ile	p.V1386I	ENST00000269081	NM_080282.3	1386	Gtt/Att	0	T:0		1			T	V/I	uc010dfa.1	protein_coding	YES	CCDS11684.1			4156/4632									ovary(2)|central_nervous_system(1)|skin(1)	4	c.(4156-4158)GTT>ATT			PROSITE_profiles:PS50893,hmmpanther:PTHR19229:SF120,hmmpanther:PTHR19229,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	ATP-binding cassette, sub-family A, member 10			T:0.0001	ENSP00000269081		36/40	1.65E-05		8.64E-05					6.18E-05	rs377479549,COSM3403159	36/40	.		ENST00000269081	Transcript			transport	integral to membrane	ATP binding|ATPase activity	ENSG00000154263	g.chr17:67148603C>T	30			MODERATE		0.665	neutral	getma.org/?cm=msa&ty=f&p=ABCAA_HUMAN&rb=1206&re=1440&var=V1386I	getma.org/pdb.php?prot=ABCAA_HUMAN&from=1206&to=1440&var=V1386I	getma.org/?cm=var&var=hg19,17,67148603,C,T&fts=all	V1386I	--	--	1																																		ABCA10_uc002jhz.2_5'Flank|ABCA10_uc010wqs.1_Missense_Mutation_p.V378I|ABCA10_uc010wqt.1_RNA	0,1	1		benign(0.014)	p.V1386I	NM_080282	NP_525021		tolerated(0.64)	0,1	ABCAA_HUMAN	ABCA10	HGNC	Q8WWZ4	ABCAA_HUMAN			K7ERP5_HUMAN		36	5035	-	Breast(10;6.95e-12)		UPI000013D7F6	1386			ABC transporter 2.		SNV	ABCA10,missense_variant,p.Val1386Ile,ENST00000269081,NM_080282.3;ABCA10,3_prime_UTR_variant,,ENST00000416101,;ABCA10,upstream_gene_variant,,ENST00000521538,;ABCA10,upstream_gene_variant,,ENST00000522787,;ABCA10,non_coding_transcript_exon_variant,,ENST00000519732,;ABCA10,3_prime_UTR_variant,,ENST00000522406,;ABCA10,3_prime_UTR_variant,,ENST00000518929,;ABCA10,3_prime_UTR_variant,,ENST00000523419,;ABCA10,upstream_gene_variant,,ENST00000524231,;ABCA10,upstream_gene_variant,,ENST00000588514,;	uc010dfa.1	c.4156G>A	5066/6362	1	1			c.4156G>A						17	SNP	c.(4156-4158)GTT>ATT	6	6			ovary(2)|central_nervous_system(1)|skin(1)	4	Broad	ATP-binding cassette, sub-family A, member 10			67148603		0.423	ENSG00000154263	29	g.chr17:67148603C>T	transport	integral to membrane	ATP binding|ATPase activity							18.815389	KEEP	11	5	-1	49	49	11	5	-1	30.234582	49	49	0.141304	1	0	0	0	0	1	0	0	0	--	--		0	T			ABCA10_uc002jhz.2_5'Flank|ABCA10_uc010wqs.1_Missense_Mutation_p.V378I|ABCA10_uc010wqt.1_RNA	58	GBM-06-0644-TP	p.V1386I	C	TTGTTTTTAACGGTAGCCTGA	NM_080282	NP_525021	67148603	Q8WWZ4	ABCAA_HUMAN	0			36	5035	-	T	T	Breast(10;6.95e-12)		Missense_Mutation	1386			ABC transporter 2.			
ABCA10	10349	broad.mit.edu	GRCh37	17	67181653	67181653	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01	TCGA-06-0939-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269081.4:c.2462C>T	p.Thr821Met	p.T821M	ENST00000269081	NM_080282.3	821	aCg/aTg	0			1			A	T/M	uc010dfa.1	protein_coding	YES	CCDS11684.1			2462/4632									ovary(2)|central_nervous_system(1)|skin(1)	4	c.(2461-2463)ACG>ATG			hmmpanther:PTHR19229:SF120,hmmpanther:PTHR19229	ATP-binding cassette, sub-family A, member 10				ENSP00000269081		21/40	2.47E-05					1.50E-05		0.000121	rs761160403,COSM2152440	21/40	.		ENST00000269081	Transcript			transport	integral to membrane	ATP binding|ATPase activity	ENSG00000154263	g.chr17:67181653G>A	30			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=ABCAA_HUMAN&rb=774&re=1134&var=T821M	NA	getma.org/?cm=var&var=hg19,17,67181653,G,A&fts=all	T821M	--	--	1																																		ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.T422M	0,1	1		benign(0.096)	p.T821M	NM_080282	NP_525021		tolerated(0.08)	0,1	ABCAA_HUMAN	ABCA10	HGNC	Q8WWZ4	ABCAA_HUMAN			K7ERP5_HUMAN		21	3341	-	Breast(10;6.95e-12)		UPI000013D7F6	821					SNV	ABCA10,missense_variant,p.Thr821Met,ENST00000269081,NM_080282.3;ABCA10,3_prime_UTR_variant,,ENST00000416101,;ABCA10,missense_variant,p.Thr821Met,ENST00000523419,;ABCA10,3_prime_UTR_variant,,ENST00000522406,;ABCA10,3_prime_UTR_variant,,ENST00000518929,;	uc010dfa.1	c.2462C>T	3372/6362	2	2			c.2462C>T						17	SNP	c.(2461-2463)ACG>ATG	17	17			ovary(2)|central_nervous_system(1)|skin(1)	4	Broad	ATP-binding cassette, sub-family A, member 10			67181653		0.363	ENSG00000154263	29	g.chr17:67181653G>A	transport	integral to membrane	ATP binding|ATPase activity							124.436004	KEEP	20	32	-1	48	60	20	32	-1	127.754097	48	60	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	A			ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.T422M	78	GBM-06-0939-TP	p.T821M	G	GGTAAGAGGCGTCTTCGGGAT	NM_080282	NP_525021	67181653	Q8WWZ4	ABCAA_HUMAN	0			21	3341	-	A	A	Breast(10;6.95e-12)		Missense_Mutation	821						
ABCA10	0	broad.mit.edu	GRCh37	17	67188731	67188731	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs138792982	byFrequency	TCGA-19-5950-01	TCGA-19-5950-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269081.4:c.1844G>A	p.Arg615Gln	p.R615Q	ENST00000269081	NM_080282.3	615	cGa/cAa	0	T:0.0005		1			T	R/Q	uc010dfa.1	protein_coding	YES	CCDS11684.1			1844/4632									ovary(2)|central_nervous_system(1)|skin(1)	4	c.(1843-1845)CGA>CAA			PROSITE_profiles:PS50893,hmmpanther:PTHR19229:SF120,hmmpanther:PTHR19229,Gene3D:3.40.50.300	ATP-binding cassette, sub-family A, member 10			T:0.0009	ENSP00000269081		17/40	0.000437	9.86E-05	0.000174	0.000116		0.000681	0.00112	0.000122	rs138792982,COSM2156566	17/40	common_variant		ENST00000269081	Transcript			transport	integral to membrane	ATP binding|ATPase activity	ENSG00000154263	g.chr17:67188731C>T	30			MODERATE		0.375	neutral	getma.org/?cm=msa&ty=f&p=ABCAA_HUMAN&rb=391&re=626&var=R615Q	getma.org/pdb.php?prot=ABCAA_HUMAN&from=391&to=626&var=R615Q	getma.org/?cm=var&var=hg19,17,67188731,C,T&fts=all	R615Q	--	--	1																																		ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.R216Q	0,1	1		benign(0.284)	p.R615Q	NM_080282	NP_525021		deleterious(0.03)	0,1	ABCAA_HUMAN	ABCA10	HGNC	Q8WWZ4	ABCAA_HUMAN			K7ERP5_HUMAN		17	2723	-	Breast(10;6.95e-12)		UPI000013D7F6	615			ABC transporter 1.		SNV	ABCA10,missense_variant,p.Arg615Gln,ENST00000269081,NM_080282.3;ABCA10,3_prime_UTR_variant,,ENST00000416101,;ABCA10,downstream_gene_variant,,ENST00000432313,;ABCA10,missense_variant,p.Arg615Gln,ENST00000523419,;ABCA10,3_prime_UTR_variant,,ENST00000522406,;ABCA10,3_prime_UTR_variant,,ENST00000518929,;	uc010dfa.1	c.1844G>A	2754/6362	2	2			c.1844G>A						17	SNP	c.(1843-1845)CGA>CAA	21	21			ovary(2)|central_nervous_system(1)|skin(1)	4	Broad	ATP-binding cassette, sub-family A, member 10			67188731		0.328	ENSG00000154263	29	g.chr17:67188731C>T	transport	integral to membrane	ATP binding|ATPase activity							169.325231	KEEP	22	39	-1	43	54	22	39	-1	170.278384	43	54	0.409091	1	0	0	0	0	1	0	0	0	--	--		0	T			ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.R216Q	170	GBM-19-5950-TP	p.R615Q	C	ACCCCACTTTCGCTTCAGAAA	NM_080282	NP_525021	67188731	Q8WWZ4	ABCAA_HUMAN	0			17	2723	-	T	T	Breast(10;6.95e-12)		Missense_Mutation	615			ABC transporter 1.			
ABCA10	10349		GRCh37	17	67211983	67211983	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000269081.4:c.831T>C	p.Pro277=	p.P277=	ENST00000269081	NM_080282.3	277	ccT/ccC	0																																																																																																																																																																																																																																												
ABCA12	0	broad.mit.edu	GRCh37	2	215843155	215843156	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-12-0618-01	TCGA-12-0618-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000272895.7:c.5012dupA	p.Asn1671LysfsTer2	p.N1671Kfs*2	ENST00000272895	NM_173076.2	1671	aat/aaAt	0			1			T	N/KX	uc002vew.2	protein_coding	YES	CCDS33372.1			5012-5013/7788									ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11	c.(5011-5013)AATfs			hmmpanther:PTHR19229:SF29,hmmpanther:PTHR19229	ATP-binding cassette, sub-family A, member 12				ENSP00000272895		33/53									COSM1405240	33/53	.		ENST00000272895	Transcript	1		cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	ENSG00000144452	g.chr2:215843155_215843156insT	14637			HIGH								--	--	1																																		ABCA12_uc002vev.2_Frame_Shift_Ins_p.N1353fs|ABCA12_uc010zjn.1_Frame_Shift_Ins_p.N598fs	1	1			p.N1671fs	NM_173076	NP_775099			1	ABCAC_HUMAN	ABCA12	HGNC	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	A0SYP7_HUMAN		33	5232_5233	-		Renal(323;0.127)	UPI000019AB7A	1671					insertion	ABCA12,frameshift_variant,p.Asn1671LysfsTer2,ENST00000272895,NM_173076.2;ABCA12,frameshift_variant,p.Asn1353LysfsTer2,ENST00000389661,NM_015657.3;	uc002vew.2	c.5012_5013insA	5232-5233/9100	5	5			c.5012_5013insA						2	INS	c.(5011-5013)AATfs	61	61			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11	Broad	ATP-binding cassette, sub-family A, member 12			215843156		0.376	ENSG00000144452	30	g.chr2:215843155_215843156insT	cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	Ovarian(66;664 1488 5121 34295)			Ovarian(66;664 1488 5121 34295)																0.08	1	0	0	1	1	0	0	0	0	--	--		0	T			ABCA12_uc002vev.2_Frame_Shift_Ins_p.N1353fs|ABCA12_uc010zjn.1_Frame_Shift_Ins_p.N598fs	119	GBM-12-0618-TP	p.N1671fs	-	TCATAGCACTATTTTTTTGTGA	NM_173076	NP_775099	215843155	Q86UK0	ABCAC_HUMAN	0		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	33	5232_5233	-	T	T		Renal(323;0.127)	Frame_Shift_Ins	1671						
ABCA12	0	broad.mit.edu	GRCh37	2	215855594	215855594	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-5651-01	TCGA-41-5651-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000272895.7:c.3456G>A	p.Ser1152=	p.S1152=	ENST00000272895	NM_173076.2	1152	tcG/tcA	0			1			T	S	uc002vew.2	protein_coding	YES	CCDS33372.1			3456/7788									ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11	c.(3454-3456)TCG>TCA			Pfam_domain:PF12698,hmmpanther:PTHR19229:SF29,hmmpanther:PTHR19229,Transmembrane_helices:TMhelix	ATP-binding cassette, sub-family A, member 12				ENSP00000272895		24/53									COSM3407557	24/53	.		ENST00000272895	Transcript	1		cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	ENSG00000144452	g.chr2:215855594C>T	14637			LOW								--	--	1																																		ABCA12_uc002vev.2_Silent_p.S834S|ABCA12_uc010zjn.1_Silent_p.S79S	1	1			p.S1152S	NM_173076	NP_775099			1	ABCAC_HUMAN	ABCA12	HGNC	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	A0SYP7_HUMAN		24	3676	-		Renal(323;0.127)	UPI000019AB7A	1152			Helical; (Potential).		SNV	ABCA12,synonymous_variant,p.=,ENST00000272895,NM_173076.2;ABCA12,synonymous_variant,p.=,ENST00000389661,NM_015657.3;	uc002vew.2	c.3456G>A	3676/9100	1	1			c.3456G>A						2	SNP	c.(3454-3456)TCG>TCA	13	13			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11	Broad	ATP-binding cassette, sub-family A, member 12			215855594		0.388	ENSG00000144452	30	g.chr2:215855594C>T	cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	Ovarian(66;664 1488 5121 34295)			Ovarian(66;664 1488 5121 34295)			107.207237	KEEP	17	20	-1	18	18	17	20	-1	107.210337	18	18	0.492308	1	0	0	0	0	0	0	1	0	--	--		0	T			ABCA12_uc002vev.2_Silent_p.S834S|ABCA12_uc010zjn.1_Silent_p.S79S	258	GBM-41-5651-TP	p.S1152S	C	AGCTGTAGTCCGAAAAATACA	NM_173076	NP_775099	215855594	Q86UK0	ABCAC_HUMAN	0		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	24	3676	-	T	T		Renal(323;0.127)	Silent	1152			Helical; (Potential).			
ABCA13	154664	broad.mit.edu	GRCh37	7	48556332	48556332	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-5415-01	TCGA-06-5415-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000435803.1:c.13652T>C	p.Leu4551Pro	p.L4551P	ENST00000435803	NM_152701.3	4551	cTt/cCt	0			1			C	L/P	uc003toq.2	protein_coding	YES	CCDS47584.1			13652/15177									ovary(5)|central_nervous_system(4)|skin(1)	10	c.(13651-13653)CTT>CCT			Pfam_domain:PF12698,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113,Transmembrane_helices:TMhelix	ATP binding cassette, sub-family A (ABC1),				ENSP00000411096		52/62									COSM3412134,COSM3412133	52/62	.		ENST00000435803	Transcript			transport	integral to membrane	ATP binding|ATPase activity	ENSG00000179869	g.chr7:48556332T>C	14638			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=ABCAD_HUMAN&rb=4373&re=4674&var=L4551P	NA	getma.org/?cm=var&var=hg19,7,48556332,T,C&fts=all	L4551P	--	--	1																																		ABCA13_uc010kys.1_Missense_Mutation_p.L1626P|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.L281P	1,1	1		probably_damaging(0.992)	p.L4551P	NM_152701	NP_689914			1,1	ABCAD_HUMAN	ABCA13	HGNC	Q86UQ4	ABCAD_HUMAN					52	13677	+			UPI00001A95EA	4551			Helical; (Potential).		SNV	ABCA13,missense_variant,p.Leu4551Pro,ENST00000435803,NM_152701.3;ABCA13,missense_variant,p.Leu324Pro,ENST00000411975,;ABCA13,missense_variant,p.Leu281Pro,ENST00000544596,;ABCA13,missense_variant,p.Leu72Pro,ENST00000435451,;ABCA13,missense_variant,p.Leu817Pro,ENST00000453246,;	uc003toq.2	c.13652T>C	13676/17184	3	3			c.13652T>C						7	SNP	c.(13651-13653)CTT>CCT	4	4			ovary(5)|central_nervous_system(4)|skin(1)	10	Broad	ATP binding cassette, sub-family A (ABC1),			48556332		0.294	ENSG00000179869	31	g.chr7:48556332T>C	transport	integral to membrane	ATP binding|ATPase activity							-90.163027	KEEP	5	7	-1	266	252	5	7	-1	26.831383	266	252	0.025641	1	0	0	0	0	1	0	0	0	--	--		0	C			ABCA13_uc010kys.1_Missense_Mutation_p.L1626P|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.L281P	98	GBM-06-5415-TP	p.L4551P	T	TATGCAACTCTTCCATGGATG	NM_152701	NP_689914	48556332	Q86UQ4	ABCAD_HUMAN	0			52	13677	+	C	C			Missense_Mutation	4551			Helical; (Potential).			
ABCA13	0	broad.mit.edu	GRCh37	7	48287865	48287865	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-27-2519-01	TCGA-27-2519-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000435803.1:c.1689G>T	p.Trp563Cys	p.W563C	ENST00000435803	NM_152701.3	563	tgG/tgT	0			1			T	W/C	uc003toq.2	protein_coding	YES	CCDS47584.1			1689/15177									ovary(5)|central_nervous_system(4)|skin(1)	10	c.(1687-1689)TGG>TGT			hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113	ATP binding cassette, sub-family A (ABC1),				ENSP00000411096		14/62									COSM3412118,COSM3412117	14/62	.		ENST00000435803	Transcript			transport	integral to membrane	ATP binding|ATPase activity	ENSG00000179869	g.chr7:48287865G>T	14638			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=ABCAD_HUMAN&rb=401&re=600&var=W563C	NA	getma.org/?cm=var&var=hg19,7,48287865,G,T&fts=all	W563C	--	--	1																																		ABCA13_uc010kyr.2_Missense_Mutation_p.W66C	1,1	1		benign(0.439)	p.W563C	NM_152701	NP_689914			1,1	ABCAD_HUMAN	ABCA13	HGNC	Q86UQ4	ABCAD_HUMAN					14	1714	+			UPI00001A95EA	563					SNV	ABCA13,missense_variant,p.Trp563Cys,ENST00000435803,NM_152701.3;ABCA13,3_prime_UTR_variant,,ENST00000417403,;	uc003toq.2	c.1689G>T	1713/17184	1	1			c.1689G>T						7	SNP	c.(1687-1689)TGG>TGT	13	13			ovary(5)|central_nervous_system(4)|skin(1)	10	Broad	ATP binding cassette, sub-family A (ABC1),			48287865		0.388	ENSG00000179869	31	g.chr7:48287865G>T	transport	integral to membrane	ATP binding|ATPase activity							-1.658525	KEEP	6	5	0.545454545	69	60	6	5	0.545454545	21.375353	69	60	0.07874	1	0	0	0	0	1	0	0	0	--	--		0	T			ABCA13_uc010kyr.2_Missense_Mutation_p.W66C	199	GBM-27-2519-TP	p.W563C	G	TCATTACTTGGCACAAAAATA	NM_152701	NP_689914	48287865	Q86UQ4	ABCAD_HUMAN	0			14	1714	+	T	T			Missense_Mutation	563						
ABCA13	0	broad.mit.edu	GRCh37	7	48443394	48443394	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-2514-01	TCGA-28-2514-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000435803.1:c.11988C>T	p.Thr3996=	p.T3996=	ENST00000435803	NM_152701.3	3996	acC/acT	0	T:0.0002	T:0.0008	1	T:0		T	T	uc003toq.2	protein_coding	YES	CCDS47584.1			11988/15177									ovary(5)|central_nervous_system(4)|skin(1)	10	c.(11986-11988)ACC>ACT			Superfamily_domains:SSF52540,SMART_domains:SM00382,Pfam_domain:PF00005,Gene3D:3.40.50.300,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113,PROSITE_profiles:PS50893	ATP binding cassette, sub-family A (ABC1),		T:0	T:0	ENSP00000411096	T:0	39/62	4.96E-05	0.000205				6.04E-05			rs199785430,COSM3412130,COSM3412129	39/62	.		ENST00000435803	Transcript		T:0.0002	transport	integral to membrane	ATP binding|ATPase activity	ENSG00000179869	g.chr7:48443394C>T	14638			LOW								--	--	1																																		ABCA13_uc010kys.1_Silent_p.T1070T|ABCA13_uc003tos.1_Silent_p.T822T|ABCA13_uc010kyt.1_RNA	0,1,1	1			p.T3996T	NM_152701	NP_689914	T:0		0,1,1	ABCAD_HUMAN	ABCA13	HGNC	Q86UQ4	ABCAD_HUMAN					39	12013	+			UPI00001A95EA	3996			ABC transporter 1.		SNV	ABCA13,synonymous_variant,p.=,ENST00000435803,NM_152701.3;ABCA13,synonymous_variant,p.=,ENST00000453246,;ABCA13,non_coding_transcript_exon_variant,,ENST00000484268,;	uc003toq.2	c.11988C>T	12012/17184	1	1			c.11988C>T						7	SNP	c.(11986-11988)ACC>ACT	12	12			ovary(5)|central_nervous_system(4)|skin(1)	10	Broad	ATP binding cassette, sub-family A (ABC1),			48443394		0.572	ENSG00000179869	31	g.chr7:48443394C>T	transport	integral to membrane	ATP binding|ATPase activity							11.057431	KEEP	4	5	-1	29	35	4	5	-1	20.579014	29	35	0.119403	1	0	0	0	0	0	0	1	0	--	--		0	T			ABCA13_uc010kys.1_Silent_p.T1070T|ABCA13_uc003tos.1_Silent_p.T822T|ABCA13_uc010kyt.1_RNA	214	GBM-28-2514-TP	p.T3996T	C	TGTCGAGGACCGTGGTTCTGG	NM_152701	NP_689914	48443394	Q86UQ4	ABCAD_HUMAN	0			39	12013	+	T	T			Silent	3996			ABC transporter 1.			
ABCA13	0	broad.mit.edu	GRCh37	7	48318026	48318026	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-2634-01	TCGA-32-2634-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000435803.1:c.7235C>G	p.Ala2412Gly	p.A2412G	ENST00000435803	NM_152701.3	2412	gCt/gGt	0	G:0		1			G	A/G	uc003toq.2	protein_coding	YES	CCDS47584.1			7235/15177									ovary(5)|central_nervous_system(4)|skin(1)	10	c.(7234-7236)GCT>GGT			hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113	ATP binding cassette, sub-family A (ABC1),			G:0.0001	ENSP00000411096		18/62	1.66E-05					3.00E-05			rs373658653,COSM3412126,COSM3412125	18/62	.		ENST00000435803	Transcript			transport	integral to membrane	ATP binding|ATPase activity	ENSG00000179869	g.chr7:48318026C>G	14638			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=ABCAD_HUMAN&rb=2401&re=2600&var=A2412G	NA	getma.org/?cm=var&var=hg19,7,48318026,C,G&fts=all	A2412G	--	--	1																																		ABCA13_uc010kys.1_5'Flank	0,1,1	1		benign(0.37)	p.A2412G	NM_152701	NP_689914			0,1,1	ABCAD_HUMAN	ABCA13	HGNC	Q86UQ4	ABCAD_HUMAN					18	7260	+			UPI00001A95EA	2412					SNV	ABCA13,missense_variant,p.Ala2412Gly,ENST00000435803,NM_152701.3;	uc003toq.2	c.7235C>G	7259/17184	4	4			c.7235C>G						7	SNP	c.(7234-7236)GCT>GGT	21	21			ovary(5)|central_nervous_system(4)|skin(1)	10	Broad	ATP binding cassette, sub-family A (ABC1),			48318026		0.383	ENSG00000179869	31	g.chr7:48318026C>G	transport	integral to membrane	ATP binding|ATPase activity							173.453007	KEEP	31	20	-1	29	22	31	20	-1	173.455397	29	22	0.505495	1	0	0	0	0	1	0	0	0	--	--		0	G			ABCA13_uc010kys.1_5'Flank	241	GBM-32-2634-TP	p.A2412G	C	CTTGGGTCAGCTCTTCACCTT	NM_152701	NP_689914	48318026	Q86UQ4	ABCAD_HUMAN	0			18	7260	+	G	G			Missense_Mutation	2412						
ABCA13	0	broad.mit.edu	GRCh37	7	48450229	48450229	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-87-5896-01	TCGA-87-5896-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000435803.1:c.12183G>T	p.Leu4061=	p.L4061=	ENST00000435803	NM_152701.3	4061	ctG/ctT	0			1			T	L	uc003toq.2	protein_coding	YES	CCDS47584.1			12183/15177									ovary(5)|central_nervous_system(4)|skin(1)	10	c.(12181-12183)CTG>CTT			Superfamily_domains:SSF52540,Gene3D:3.40.50.300,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113,PROSITE_profiles:PS50893	ATP binding cassette, sub-family A (ABC1),				ENSP00000411096		40/62									COSM3412132,COSM3412131	40/62	.		ENST00000435803	Transcript			transport	integral to membrane	ATP binding|ATPase activity	ENSG00000179869	g.chr7:48450229G>T	14638			LOW								--	--	1																																		ABCA13_uc010kys.1_Silent_p.L1135L|ABCA13_uc010kyt.1_RNA	1,1	1			p.L4061L	NM_152701	NP_689914			1,1	ABCAD_HUMAN	ABCA13	HGNC	Q86UQ4	ABCAD_HUMAN					40	12208	+			UPI00001A95EA	4061			ABC transporter 1.		SNV	ABCA13,synonymous_variant,p.=,ENST00000435803,NM_152701.3;ABCA13,synonymous_variant,p.=,ENST00000453246,;	uc003toq.2	c.12183G>T	12207/17184	1	1			c.12183G>T						7	SNP	c.(12181-12183)CTG>CTT	16	16			ovary(5)|central_nervous_system(4)|skin(1)	10	Broad	ATP binding cassette, sub-family A (ABC1),			48450229		0.582	ENSG00000179869	31	g.chr7:48450229G>T	transport	integral to membrane	ATP binding|ATPase activity							125.982026	KEEP	30	24	0.555555556	73	76	30	24	0.555555556	135.737122	73	76	0.260638	1	0	0	0	0	0	0	1	0	--	--		0	T			ABCA13_uc010kys.1_Silent_p.L1135L|ABCA13_uc010kyt.1_RNA	291	GBM-87-5896-TP	p.L4061L	G	CCTTCTGCCTGAAGGAGGCAT	NM_152701	NP_689914	48450229	Q86UQ4	ABCAD_HUMAN	0			40	12208	+	T	T			Silent	4061			ABC transporter 1.			
ABCA3	21	broad.mit.edu	GRCh37	16	2369841	2369841	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01	TCGA-06-1804-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301732.5:c.614G>A	p.Gly205Glu	p.G205E	ENST00000301732	NM_001089.2	205	gGg/gAg	0			1			T	G/E	uc002cpy.1	protein_coding	YES	CCDS10466.1			614/5115									breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16	c.(613-615)GGG>GAG			hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF98	ATP-binding cassette, sub-family A member 3				ENSP00000301732		Aug-33	8.24E-06					1.52E-05			rs748051185,COSM2152466	Aug-33	.		ENST00000301732	Transcript	1		response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	ENSG00000167972	g.chr16:2369841C>T	33			MODERATE		2.745	medium	getma.org/?cm=msa&ty=f&p=ABCA3_HUMAN&rb=21&re=469&var=G205E	NA	getma.org/?cm=var&var=hg19,16,2369841,C,T&fts=all	G205E	--	--	1																																		ABCA3_uc010bsk.1_Missense_Mutation_p.G205E|ABCA3_uc010bsl.1_Missense_Mutation_p.G205E	0,1	1		possibly_damaging(0.896)	p.G205E	NM_001089	NP_001080		deleterious(0.01)	0,1	ABCA3_HUMAN	ABCA3	HGNC	Q99758	ABCA3_HUMAN					8	1326	-		Ovarian(90;0.17)	UPI0000001232	205					SNV	ABCA3,missense_variant,p.Gly205Glu,ENST00000301732,NM_001089.2;ABCA3,missense_variant,p.Gly205Glu,ENST00000382381,;ABCA3,downstream_gene_variant,,ENST00000567910,;ABCA3,splice_region_variant,,ENST00000563623,;	uc002cpy.1	c.614G>A	1315/6609	2	2			c.614G>A						16	SNP	c.(613-615)GGG>GAG	21	21			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16	Broad	ATP-binding cassette, sub-family A member 3			2369841		0.657	ENSG00000167972	33	g.chr16:2369841C>T	response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			701			701	160.012219	KEEP	23	36	-1	27	46	23	36	-1	160.28715	27	46	0.447368	1	0	0	0	0	1	0	0	0	--	--		0	T			ABCA3_uc010bsk.1_Missense_Mutation_p.G205E|ABCA3_uc010bsl.1_Missense_Mutation_p.G205E	79	GBM-06-1804-TP	p.G205E	C	CCGGATGTACCCTGGGTGCGG	NM_001089	NP_001080	2369841	Q99758	ABCA3_HUMAN	0			8	1326	-	T	T		Ovarian(90;0.17)	Missense_Mutation	205						
ABCA4	24	broad.mit.edu	GRCh37	1	94543367	94543367	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0747-01	TCGA-06-0747-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370225.3:c.1433T>A	p.Ile478Asn	p.I478N	ENST00000370225	NM_000350.2	478	aTc/aAc	0			1			T	I/N	uc001dqh.2	protein_coding	YES	CCDS747.1			1433/6822									ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12	c.(1432-1434)ATC>AAC			hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF97,TIGRFAM_domain:TIGR01257	ATP-binding cassette, sub-family A member 4				ENSP00000359245		Nov-50									COSM2151804,COSM3401103	Nov-50	.		ENST00000370225	Transcript	1		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	ENSG00000198691	g.chr1:94543367A>T	34			MODERATE		2.22	medium	getma.org/?cm=msa&ty=f&p=ABCA4_HUMAN&rb=401&re=513&var=I478N	NA	getma.org/?cm=var&var=hg19,1,94543367,A,T&fts=all	I478N	--	--	1																																		ABCA4_uc010otn.1_Missense_Mutation_p.I478N	1,1	1		possibly_damaging(0.602)	p.I478N	NM_000350	NP_000341		deleterious(0)	1,1	ABCA4_HUMAN	ABCA4	HGNC	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	Q86V62_HUMAN,Q0QD48_HUMAN,F5H5R2_HUMAN		11	1537	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	UPI000012511C	478			Extracellular.		SNV	ABCA4,missense_variant,p.Ile478Asn,ENST00000370225,NM_000350.2;ABCA4,missense_variant,p.Ile478Asn,ENST00000535735,;	uc001dqh.2	c.1433T>A	1520/7309	2	2			c.1433T>A						1	SNP	c.(1432-1434)ATC>AAC	46	46			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12	Broad	ATP-binding cassette, sub-family A member 4			94543367		0.493	ENSG00000198691	34	g.chr1:94543367A>T	phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances							398.762776	KEEP	93	53	-1	89	60	93	53	-1	398.828358	89	60	0.483146	1	0	0	0	0	1	0	0	0	--	--		0	T			ABCA4_uc010otn.1_Missense_Mutation_p.I478N	68	GBM-06-0747-TP	p.I478N	A	GAAGTTTAGGATGGCTTCAGC	NM_000350	NP_000341	94543367	P78363	ABCA4_HUMAN	0		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	11	1537	-	T	T		all_lung(203;0.000757)|Lung NSC(277;0.00335)	Missense_Mutation	478			Extracellular.			
ABCA4	0	broad.mit.edu	GRCh37	1	94466600	94466600	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5211-01	TCGA-28-5211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370225.3:c.6344G>A	p.Ser2115Asn	p.S2115N	ENST00000370225	NM_000350.2	2115	aGc/aAc	0			1			T	S/N	uc001dqh.2	protein_coding	YES	CCDS747.1			6344/6822									ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12	c.(6343-6345)AGC>AAC			Gene3D:3.40.50.300,PROSITE_profiles:PS50893,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF97,SMART_domains:SM00382,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR01257	ATP-binding cassette, sub-family A member 4				ENSP00000359245		46/50									COSM3401099	46/50	.		ENST00000370225	Transcript	1		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	ENSG00000198691	g.chr1:94466600C>T	34			MODERATE		0.91	low	getma.org/?cm=msa&ty=f&p=ABCA4_HUMAN&rb=1938&re=2170&var=S2115N	getma.org/pdb.php?prot=ABCA4_HUMAN&from=1938&to=2170&var=S2115N	getma.org/?cm=var&var=hg19,1,94466600,C,T&fts=all	S2115N	--	--	1																																			1	1		benign(0.021)	p.S2115N	NM_000350	NP_000341		deleterious(0.02)	1	ABCA4_HUMAN	ABCA4	HGNC	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	Q86V62_HUMAN,Q0QD48_HUMAN,F5H5R2_HUMAN		46	6448	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	UPI000012511C	2115			ABC transporter 2.|Cytoplasmic.		SNV	ABCA4,missense_variant,p.Ser2115Asn,ENST00000370225,NM_000350.2;ABCA4,missense_variant,p.Ser385Asn,ENST00000536513,;ABCA4,missense_variant,p.Ser234Asn,ENST00000535881,;ABCA4,downstream_gene_variant,,ENST00000465352,;ABCA4,downstream_gene_variant,,ENST00000484388,;	uc001dqh.2	c.6344G>A	6431/7309	2	2			c.6344G>A						1	SNP	c.(6343-6345)AGC>AAC	30	30			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12	Broad	ATP-binding cassette, sub-family A member 4			94466600		0.632	ENSG00000198691	34	g.chr1:94466600C>T	phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances							19.217956	KEEP	6	6	-1	22	24	6	6	-1	23.20558	22	24	0.204082	1	0	0	0	0	1	0	0	0	--	--		0	T				219	GBM-28-5211-TP	p.S2115N	C	TCTGATGATGCTCACGATGAC	NM_000350	NP_000341	94466600	P78363	ABCA4_HUMAN	0		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	46	6448	-	T	T		all_lung(203;0.000757)|Lung NSC(277;0.00335)	Missense_Mutation	2115			ABC transporter 2.|Cytoplasmic.			
ABCA4	0	broad.mit.edu	GRCh37	1	94512564	94512564	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-5216-01	TCGA-28-5216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370225.3:c.2829G>A	p.Arg943=	p.R943=	ENST00000370225	NM_000350.2	943	cgG/cgA	0			1			T	R	uc001dqh.2	protein_coding	YES	CCDS747.1			2829/6822									ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12	c.(2827-2829)CGG>CGA			Gene3D:3.40.50.300,PROSITE_profiles:PS50893,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF97,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR01257	ATP-binding cassette, sub-family A member 4				ENSP00000359245		19/50									COSM3401101,COSM3401102	19/50	.		ENST00000370225	Transcript	1		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	ENSG00000198691	g.chr1:94512564C>T	34			LOW								--	--	1																																		ABCA4_uc010otn.1_Silent_p.R869R	1,1	1			p.R943R	NM_000350	NP_000341			1,1	ABCA4_HUMAN	ABCA4	HGNC	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	Q86V62_HUMAN,Q0QD48_HUMAN,F5H5R2_HUMAN		19	2933	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	UPI000012511C	943		R -> W (in STGD1 and FFM).	Cytoplasmic.|ABC transporter 1.		SNV	ABCA4,synonymous_variant,p.=,ENST00000370225,NM_000350.2;ABCA4,synonymous_variant,p.=,ENST00000535735,;	uc001dqh.2	c.2829G>A	2916/7309	2	2			c.2829G>A						1	SNP	c.(2827-2829)CGG>CGA	29	29			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12	Broad	ATP-binding cassette, sub-family A member 4			94512564		0.522	ENSG00000198691	34	g.chr1:94512564C>T	phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances							-113.125819	KEEP	2	5	-1	249	275	2	5	-1	8.408399	249	275	0.015351	1	0	0	0	0	0	0	1	0	--	--		0	T			ABCA4_uc010otn.1_Silent_p.R869R	223	GBM-28-5216-TP	p.R943R	C	CCACAGCTGGCCGGCCACAGG	NM_000350	NP_000341	94512564	P78363	ABCA4_HUMAN	0		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	19	2933	-	T	T		all_lung(203;0.000757)|Lung NSC(277;0.00335)	Silent	943		R -> W (in STGD1 and FFM).	Cytoplasmic.|ABC transporter 1.			
ABCA4	0	broad.mit.edu	GRCh37	1	94508933	94508933	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs61750062		TCGA-32-2495-01	TCGA-32-2495-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370225.3:c.3149G>A	p.Gly1050Asp	p.G1050D	ENST00000370225	NM_000350.2	1050	gGc/gAc	0			1			T	G/D	uc001dqh.2	protein_coding	YES	CCDS747.1			3149/6822						not_provided			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12	c.(3148-3150)GGC>GAC			Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_profiles:PS50893,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF97,SMART_domains:SM00382,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR01257	ATP-binding cassette, sub-family A member 4				ENSP00000359245		21/50	2.47E-05					4.50E-05			rs61750062,RISN_ABCR:c.3149G>A,COSM3401100	21/50	.		ENST00000370225	Transcript	1		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	ENSG00000198691	g.chr1:94508933C>T	34			MODERATE		1.12	low	getma.org/?cm=msa&ty=f&p=ABCA4_HUMAN&rb=970&re=1090&var=G1050D	getma.org/pdb.php?prot=ABCA4_HUMAN&from=970&to=1090&var=G1050D	getma.org/?cm=var&var=hg19,1,94508933,C,T&fts=all	G1050D	--	--	1																																			1,0,1	1		probably_damaging(0.996)	p.G1050D	NM_000350	NP_000341		deleterious(0)	0,0,1	ABCA4_HUMAN	ABCA4	HGNC	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	Q86V62_HUMAN,Q0QD48_HUMAN,F5H5R2_HUMAN		21	3253	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	UPI000012511C	1050			Cytoplasmic.|ABC transporter 1.		SNV	ABCA4,missense_variant,p.Gly1050Asp,ENST00000370225,NM_000350.2;ABCA4,downstream_gene_variant,,ENST00000535735,;	uc001dqh.2	c.3149G>A	3236/7309	2	2			c.3149G>A						1	SNP	c.(3148-3150)GGC>GAC	33	33			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12	Broad	ATP-binding cassette, sub-family A member 4			94508933		0.582	ENSG00000198691	34	g.chr1:94508933C>T	phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances							143.894634	KEEP	20	37	-1	25	34	20	37	-1	143.903845	25	34	0.510638	1	0	0	0	0	1	0	0	0	--	--		0	T				237	GBM-32-2495-TP	p.G1050D	C	GTGGTGGAGGCCTGTGTCCTC	NM_000350	NP_000341	94508933	P78363	ABCA4_HUMAN	0		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	21	3253	-	T	T		all_lung(203;0.000757)|Lung NSC(277;0.00335)	Missense_Mutation	1050			Cytoplasmic.|ABC transporter 1.			
ABCA4	24		GRCh37	1	94463458	94463458	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000370225.3:c.6688C>T	p.Leu2230Phe	p.L2230F	ENST00000370225	NM_000350.2	2230	Ctc/Ttc	0																																																																																																																																																																																																																																												
ABCA4	24		GRCh37	1	94522271	94522271	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000370225.3:c.2268C>T	p.Ser756=	p.S756=	ENST00000370225	NM_000350.2	756	tcC/tcT	0																																																																																																																																																																																																																																												
ABCA5	0	broad.mit.edu	GRCh37	17	67305454	67305454	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01	TCGA-26-1439-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392676.3:c.418C>T	p.Arg140Cys	p.R140C	ENST00000392676		140	Cgt/Tgt	0			1			A	R/C	uc002jif.2	protein_coding	YES	CCDS11685.1			418/4929									ovary(2)|central_nervous_system(1)|skin(1)	4	c.(418-420)CGT>TGT			hmmpanther:PTHR19229:SF100,hmmpanther:PTHR19229,Pfam_domain:PF12698	ATP-binding cassette, sub-family A , member 5				ENSP00000376443		Apr-39									COSM3403163	Apr-39	.		ENST00000392676	Transcript	1		cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	ENSG00000154265	g.chr17:67305454G>A	35			MODERATE		2.455	medium	getma.org/?cm=msa&ty=f&p=ABCA5_HUMAN&rb=30&re=416&var=R140C	NA	getma.org/?cm=var&var=hg19,17,67305454,G,A&fts=all	R140C	--	--	1																																		ABCA5_uc002jig.2_Missense_Mutation_p.R140C|ABCA5_uc002jih.2_Missense_Mutation_p.R140C|ABCA5_uc010dfe.2_Missense_Mutation_p.R140C	1	1		probably_damaging(0.991)	p.R140C	NM_018672	NP_061142		deleterious(0)	1	ABCA5_HUMAN	ABCA5	HGNC	Q8WWZ7	ABCA5_HUMAN			K7EQ50_HUMAN,K7EPM3_HUMAN,K7EMV2_HUMAN,K7EJW6_HUMAN		3	1636	-	Breast(10;3.72e-11)		UPI000013DD9E	140					SNV	ABCA5,missense_variant,p.Arg140Cys,ENST00000392676,;ABCA5,missense_variant,p.Arg140Cys,ENST00000392677,NM_172232.2;ABCA5,missense_variant,p.Arg140Cys,ENST00000588877,NM_018672.3;ABCA5,missense_variant,p.Arg140Cys,ENST00000593153,;ABCA5,missense_variant,p.Arg4Cys,ENST00000589975,;ABCA5,downstream_gene_variant,,ENST00000592568,;ABCA5,downstream_gene_variant,,ENST00000588665,;ABCA5,missense_variant,p.Arg140Cys,ENST00000593253,;ABCA5,missense_variant,p.Arg140Cys,ENST00000587607,;	uc002jif.2	c.418C>T	483/8220	2	2			c.418C>T						17	SNP	c.(418-420)CGT>TGT	30	30			ovary(2)|central_nervous_system(1)|skin(1)	4	Broad	ATP-binding cassette, sub-family A , member 5			67305454		0.328	ENSG00000154265	35	g.chr17:67305454G>A	cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity							44.329999	KEEP	9	20	-1	70	77	9	20	-1	60.887707	70	77	0.156463	1	0	0	0	0	1	0	0	0	--	--		0	A			ABCA5_uc002jig.2_Missense_Mutation_p.R140C|ABCA5_uc002jih.2_Missense_Mutation_p.R140C|ABCA5_uc010dfe.2_Missense_Mutation_p.R140C	179	GBM-26-1439-TP	p.R140C	G	GGAAAAAAACGAAGTTCATAG	NM_018672	NP_061142	67305454	Q8WWZ7	ABCA5_HUMAN	0			3	1636	-	A	A	Breast(10;3.72e-11)		Missense_Mutation	140						
ABCA5	0	broad.mit.edu	GRCh37	17	67290837	67290837	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-27-1837-01	TCGA-27-1837-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392676.3:c.1454A>C	p.Lys485Thr	p.K485T	ENST00000392676		485	aAg/aCg	0			1			G	K/T	uc002jif.2	protein_coding	YES	CCDS11685.1			1454/4929									ovary(2)|central_nervous_system(1)|skin(1)	4	c.(1453-1455)AAG>ACG			PROSITE_profiles:PS50893,hmmpanther:PTHR19229:SF100,hmmpanther:PTHR19229,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	ATP-binding cassette, sub-family A , member 5				ENSP00000376443		Nov-39									COSM3403162	Nov-39	.		ENST00000392676	Transcript	1		cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	ENSG00000154265	g.chr17:67290837T>G	35			MODERATE		3.82	high	getma.org/?cm=msa&ty=f&p=ABCA5_HUMAN&rb=478&re=713&var=K485T	getma.org/pdb.php?prot=ABCA5_HUMAN&from=478&to=713&var=K485T	getma.org/?cm=var&var=hg19,17,67290837,T,G&fts=all	K485T	--	--	1																																		ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.K485T|ABCA5_uc002jih.2_Missense_Mutation_p.K485T|ABCA5_uc010dfe.2_Missense_Mutation_p.K485T	1	1		possibly_damaging(0.865)	p.K485T	NM_018672	NP_061142		deleterious(0.01)	1	ABCA5_HUMAN	ABCA5	HGNC	Q8WWZ7	ABCA5_HUMAN			K7EQ50_HUMAN,K7EPM3_HUMAN,K7EMV2_HUMAN,K7EJW6_HUMAN		10	2672	-	Breast(10;3.72e-11)		UPI000013DD9E	485			ABC transporter 1.		SNV	ABCA5,missense_variant,p.Lys485Thr,ENST00000392676,;ABCA5,missense_variant,p.Lys485Thr,ENST00000392677,NM_172232.2;ABCA5,missense_variant,p.Lys485Thr,ENST00000588877,NM_018672.3;ABCA5,missense_variant,p.Lys485Thr,ENST00000593153,;ABCA5,missense_variant,p.Lys156Thr,ENST00000586995,;	uc002jif.2	c.1454A>C	1519/8220	3	3			c.1454A>C						17	SNP	c.(1453-1455)AAG>ACG	51	51			ovary(2)|central_nervous_system(1)|skin(1)	4	Broad	ATP-binding cassette, sub-family A , member 5			67290837		0.264	ENSG00000154265	35	g.chr17:67290837T>G	cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity							182.908578	KEEP	30	36	-1	51	58	30	36	-1	185.161659	51	58	0.371795	1	0	0	0	0	1	0	0	0	--	--		0	G			ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.K485T|ABCA5_uc002jih.2_Missense_Mutation_p.K485T|ABCA5_uc010dfe.2_Missense_Mutation_p.K485T	196	GBM-27-1837-TP	p.K485T	T	TCTGTATGTCTTCTGAATACC	NM_018672	NP_061142	67290837	Q8WWZ7	ABCA5_HUMAN	0			10	2672	-	G	G	Breast(10;3.72e-11)		Missense_Mutation	485			ABC transporter 1.			
ABCA5	0	broad.mit.edu	GRCh37	17	67264191	67264191	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-28-5204-01	TCGA-28-5204-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392676.3:c.3037A>T	p.Thr1013Ser	p.T1013S	ENST00000392676		1013	Act/Tct	0			1			A	T/S	uc002jif.2	protein_coding	YES	CCDS11685.1			3037/4929									ovary(2)|central_nervous_system(1)|skin(1)	4	c.(3037-3039)ACT>TCT			hmmpanther:PTHR19229:SF100,hmmpanther:PTHR19229,Pfam_domain:PF12698	ATP-binding cassette, sub-family A , member 5				ENSP00000376443		23/39									COSM3403161	23/39	.		ENST00000392676	Transcript	1		cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	ENSG00000154265	g.chr17:67264191T>A	35			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=ABCA5_HUMAN&rb=860&re=1225&var=T1013S	NA	getma.org/?cm=var&var=hg19,17,67264191,T,A&fts=all	T1013S	--	--	1																																		ABCA5_uc002jib.2_5'UTR|ABCA5_uc002jic.2_Missense_Mutation_p.T236S|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.T1013S	1	1		benign(0.217)	p.T1013S	NM_018672	NP_061142		tolerated(0.75)	1	ABCA5_HUMAN	ABCA5	HGNC	Q8WWZ7	ABCA5_HUMAN			K7EQ50_HUMAN,K7EPM3_HUMAN,K7EMV2_HUMAN,K7EJW6_HUMAN		22	4255	-	Breast(10;3.72e-11)		UPI000013DD9E	1013					SNV	ABCA5,missense_variant,p.Thr1013Ser,ENST00000392676,;ABCA5,missense_variant,p.Thr1014Ser,ENST00000392677,NM_172232.2;ABCA5,missense_variant,p.Thr1013Ser,ENST00000588877,NM_018672.3;ABCA5,5_prime_UTR_variant,,ENST00000586811,;ABCA5,3_prime_UTR_variant,,ENST00000586995,;ABCA5,3_prime_UTR_variant,,ENST00000591234,;	uc002jif.2	c.3037A>T	3102/8220	2	2			c.3037A>T						17	SNP	c.(3037-3039)ACT>TCT	25	25			ovary(2)|central_nervous_system(1)|skin(1)	4	Broad	ATP-binding cassette, sub-family A , member 5			67264191		0.274	ENSG00000154265	35	g.chr17:67264191T>A	cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity							117.570936	KEEP	15	26	-1	16	29	15	26	-1	117.611069	16	29	0.476744	1	0	0	0	0	1	0	0	0	--	--		0	A			ABCA5_uc002jib.2_5'UTR|ABCA5_uc002jic.2_Missense_Mutation_p.T236S|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.T1013S	215	GBM-28-5204-TP	p.T1013S	T	ACTATATCAGTAATTTCCTGA	NM_018672	NP_061142	67264191	Q8WWZ7	ABCA5_HUMAN	0			22	4255	-	A	A	Breast(10;3.72e-11)		Missense_Mutation	1013						
ABCA6	0	broad.mit.edu	GRCh37	17	67111007	67111007	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0616-01	TCGA-12-0616-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284425.2:c.1678G>A	p.Val560Ile	p.V560I	ENST00000284425	NM_080284.2	560	Gtc/Atc	0	T:0.0005	T:0	1	T:0		T	V/I	uc002jhw.1	protein_coding	YES	CCDS11683.1			1678/4854									upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	c.(1678-1680)GTC>ATC			Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_profiles:PS50893,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF13,SMART_domains:SM00382,Superfamily_domains:SSF52540	ATP-binding cassette, sub-family A, member 6		T:0	T:0	ENSP00000284425	T:0	13/39	6.59E-05	9.62E-05				7.51E-05		0.000121	rs372285217,COSM1181254	13/39	.		ENST00000284425	Transcript		T:0.0002	transport	integral to membrane	ATP binding|ATPase activity	ENSG00000154262	g.chr17:67111007C>T	36			MODERATE		0.64	neutral	getma.org/?cm=msa&ty=f&p=ABCA6_HUMAN&rb=521&re=643&var=V560I	getma.org/pdb.php?prot=ABCA6_HUMAN&from=521&to=643&var=V560I	getma.org/?cm=var&var=hg19,17,67111007,C,T&fts=all	V560I	--	--	1																																		ABCA6_uc002jhx.1_Missense_Mutation_p.V13I	0,1	1		benign(0.08)	p.V560I	NM_080284	NP_525023	T:0.001	tolerated(0.57)	0,1	ABCA6_HUMAN	ABCA6	HGNC	Q8N139	ABCA6_HUMAN					13	1853	-	Breast(10;5.65e-12)		UPI000013DD9D	560			ABC transporter 1.		SNV	ABCA6,missense_variant,p.Val560Ile,ENST00000284425,NM_080284.2;ABCA6,non_coding_transcript_exon_variant,,ENST00000592493,;ABCA6,non_coding_transcript_exon_variant,,ENST00000590311,;ABCA6,non_coding_transcript_exon_variant,,ENST00000589803,;	uc002jhw.1	c.1678G>A	1853/5300	2	2			c.1678G>A						17	SNP	c.(1678-1680)GTC>ATC	35	35			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Broad	ATP-binding cassette, sub-family A, member 6			67111007		0.348	ENSG00000154262	36	g.chr17:67111007C>T	transport	integral to membrane	ATP binding|ATPase activity							111.912513	KEEP	16	23	-1	48	37	16	23	-1	114.5932	48	37	0.336283	1	0	0	0	0	1	0	0	0	--	--		0	T			ABCA6_uc002jhx.1_Missense_Mutation_p.V13I	118	GBM-12-0616-TP	p.V560I	C	TGAGGACAGACGCCAGTTATC	NM_080284	NP_525023	67111007	Q8N139	ABCA6_HUMAN	0			13	1853	-	T	T	Breast(10;5.65e-12)		Missense_Mutation	560			ABC transporter 1.			
ABCA6	0	broad.mit.edu	GRCh37	17	67079124	67079124	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-26-6174-01	TCGA-26-6174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284425.2:c.4506C>G	p.Asn1502Lys	p.N1502K	ENST00000284425	NM_080284.2	1502	aaC/aaG	0			1			C	N/K	uc002jhw.1	protein_coding	YES	CCDS11683.1			4506/4854									upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	c.(4504-4506)AAC>AAG			Gene3D:3.40.50.300,PROSITE_profiles:PS50893,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF13,Superfamily_domains:SSF52540	ATP-binding cassette, sub-family A, member 6				ENSP00000284425		36/39									COSM3403158	36/39	.		ENST00000284425	Transcript			transport	integral to membrane	ATP binding|ATPase activity	ENSG00000154262	g.chr17:67079124G>C	36			MODERATE		0.52	neutral	getma.org/?cm=msa&ty=f&p=ABCA6_HUMAN&rb=1288&re=1513&var=N1502K	getma.org/pdb.php?prot=ABCA6_HUMAN&from=1288&to=1513&var=N1502K	getma.org/?cm=var&var=hg19,17,67079124,G,C&fts=all	N1502K	--	--	1																																			1	1		benign(0.007)	p.N1502K	NM_080284	NP_525023		tolerated(0.11)	1	ABCA6_HUMAN	ABCA6	HGNC	Q8N139	ABCA6_HUMAN					36	4681	-	Breast(10;5.65e-12)		UPI000013DD9D	1502			ABC transporter 2.		SNV	ABCA6,missense_variant,p.Asn1502Lys,ENST00000284425,NM_080284.2;ABCA6,non_coding_transcript_exon_variant,,ENST00000446604,;ABCA6,downstream_gene_variant,,ENST00000589482,;	uc002jhw.1	c.4506C>G	4681/5300	4	4			c.4506C>G						17	SNP	c.(4504-4506)AAC>AAG	34	34			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Broad	ATP-binding cassette, sub-family A, member 6			67079124		0.378	ENSG00000154262	36	g.chr17:67079124G>C	transport	integral to membrane	ATP binding|ATPase activity							12.862321	KEEP	13	14	-1	150	136	13	14	-1	60.99484	150	136	0.081481	1	0	0	0	0	1	0	0	0	--	--		0	C				188	GBM-26-6174-TP	p.N1502K	G	TGCCAAGTTTGTTTTTCAGGT	NM_080284	NP_525023	67079124	Q8N139	ABCA6_HUMAN	0			36	4681	-	C	C	Breast(10;5.65e-12)		Missense_Mutation	1502			ABC transporter 2.			
ABCA6	0	broad.mit.edu	GRCh37	17	67077247	67077247	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-2575-01	TCGA-41-2575-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284425.2:c.4656C>T	p.Asp1552=	p.D1552=	ENST00000284425	NM_080284.2	1552	gaC/gaT	0			1			A	D	uc002jhw.1	protein_coding	YES	CCDS11683.1			4656/4854									upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	c.(4654-4656)GAC>GAT			hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF13	ATP-binding cassette, sub-family A, member 6				ENSP00000284425		37/39	4.12E-05		0.000173			3.00E-05		6.09E-05	rs769359582,COSM3403157	37/39	.		ENST00000284425	Transcript			transport	integral to membrane	ATP binding|ATPase activity	ENSG00000154262	g.chr17:67077247G>A	36			LOW								--	--	1																																			0,1	1			p.D1552D	NM_080284	NP_525023			0,1	ABCA6_HUMAN	ABCA6	HGNC	Q8N139	ABCA6_HUMAN					37	4831	-	Breast(10;5.65e-12)		UPI000013DD9D	1552					SNV	ABCA6,synonymous_variant,p.=,ENST00000284425,NM_080284.2;ABCA6,non_coding_transcript_exon_variant,,ENST00000446604,;ABCA6,downstream_gene_variant,,ENST00000589482,;	uc002jhw.1	c.4656C>T	4831/5300	2	2			c.4656C>T						17	SNP	c.(4654-4656)GAC>GAT	17	17			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Broad	ATP-binding cassette, sub-family A, member 6			67077247		0.373	ENSG00000154262	36	g.chr17:67077247G>A	transport	integral to membrane	ATP binding|ATPase activity							270.054697	KEEP	71	39	-1	72	77	71	39	-1	271.276166	72	77	0.420091	1	0	0	0	0	0	0	1	0	--	--		0	A				253	GBM-41-2575-TP	p.D1552D	G	GAGGGTAAACGTCTGCCACGG	NM_080284	NP_525023	67077247	Q8N139	ABCA6_HUMAN	0			37	4831	-	A	A	Breast(10;5.65e-12)		Silent	1552						
ABCA7	0	broad.mit.edu	GRCh37	19	1042173	1042173	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0786-01	TCGA-14-0786-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263094.6:c.413C>T	p.Thr138Met	p.T138M	ENST00000263094	NM_019112.3	138	aCg/aTg	0			1			T	T/M	uc002lqw.3	protein_coding	YES	CCDS12055.1			413/6441									pancreas(7)|ovary(1)|central_nervous_system(1)	9	c.(412-414)ACG>ATG			hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF49	ATP-binding cassette, sub-family A, member 7				ENSP00000263094		May-47									COSM3403711	May-47	.		ENST00000263094	Transcript			phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	ENSG00000064687	g.chr19:1042173C>T	37			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=ABCA7_HUMAN&rb=1&re=200&var=T138M	NA	getma.org/?cm=var&var=hg19,19,1042173,C,T&fts=all	T138M	--	--	1																																		ABCA7_uc010dsb.1_5'Flank|ABCA7_uc010dsa.2_Missense_Mutation_p.T138M	1	1		benign(0.163)	p.T138M	NM_019112	NP_061985		tolerated(0.09)	1	ABCA7_HUMAN	ABCA7	HGNC	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	E9PL63_HUMAN		5	644	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	UPI000013D3A4	138			Extracellular (By similarity).		SNV	ABCA7,missense_variant,p.Thr138Met,ENST00000263094,NM_019112.3;ABCA7,missense_variant,p.Thr138Met,ENST00000433129,;ABCA7,missense_variant,p.Thr138Met,ENST00000524850,;ABCA7,missense_variant,p.Thr136Met,ENST00000531467,;ABCA7,upstream_gene_variant,,ENST00000435683,;CNN2,downstream_gene_variant,,ENST00000263097,NM_004368.2;CNN2,downstream_gene_variant,,ENST00000348419,NM_201277.1;CNN2,downstream_gene_variant,,ENST00000562958,;CNN2,downstream_gene_variant,,ENST00000568865,;CNN2,downstream_gene_variant,,ENST00000565096,;AC011558.5,upstream_gene_variant,,ENST00000585757,;CNN2,downstream_gene_variant,,ENST00000606983,;ABCA7,upstream_gene_variant,,ENST00000533574,;ABCA7,splice_region_variant,,ENST00000525238,;ABCA7,splice_region_variant,,ENST00000526885,;CNN2,downstream_gene_variant,,ENST00000564572,;CNN2,downstream_gene_variant,,ENST00000566695,;CNN2,downstream_gene_variant,,ENST00000569352,;ABCA7,downstream_gene_variant,,ENST00000527496,;ABCA7,downstream_gene_variant,,ENST00000530703,;	uc002lqw.3	c.413C>T	644/6816	2	2			c.413C>T						19	SNP	c.(412-414)ACG>ATG	31	31			pancreas(7)|ovary(1)|central_nervous_system(1)	9	Broad	ATP-binding cassette, sub-family A, member 7			1042173		0.692	ENSG00000064687	37	g.chr19:1042173C>T	phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity							17.112718	KEEP	2	5	-1	10	14	2	5	-1	18.880667	10	14	0.241379	1	0	0	0	0	1	0	0	0	--	--		0	T			ABCA7_uc010dsb.1_5'Flank|ABCA7_uc010dsa.2_Missense_Mutation_p.T138M	134	GBM-14-0786-TP	p.T138M	C	GCACGCAGCACGGGTGAGGAG	NM_019112	NP_061985	1042173	Q8IZY2	ABCA7_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	644	+	T	T		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	Missense_Mutation	138			Extracellular (By similarity).			
ABCA7	0	broad.mit.edu	GRCh37	19	1056425	1056425	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01	TCGA-19-5951-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263094.6:c.4513C>T	p.Arg1505Cys	p.R1505C	ENST00000263094	NM_019112.3	1505	Cgc/Tgc	0		T:0	1	T:0.0014		T	R/C	uc002lqw.3	protein_coding	YES	CCDS12055.1			4513/6441									pancreas(7)|ovary(1)|central_nervous_system(1)	9	c.(4513-4515)CGC>TGC			hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF49,Pfam_domain:PF12698	ATP-binding cassette, sub-family A, member 7		T:0.001		ENSP00000263094	T:0	33/47	0.00042		8.66E-05	0.000347		4.55E-05		0.00267	rs574184010,COSM2156640	33/47	common_variant		ENST00000263094	Transcript		T:0.0014	phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	ENSG00000064687	g.chr19:1056425C>T	37			MODERATE		0.9	low	getma.org/?cm=msa&ty=f&p=ABCA7_HUMAN&rb=1433&re=1750&var=R1505C	NA	getma.org/?cm=var&var=hg19,19,1056425,C,T&fts=all	R1505C	--	--	1																																		ABCA7_uc002lqy.2_5'Flank|ABCA7_uc010dsc.2_5'Flank	0,1	1		possibly_damaging(0.873)	p.R1505C	NM_019112	NP_061985	T:0.0051	deleterious(0)	0,1	ABCA7_HUMAN	ABCA7	HGNC	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	E9PL63_HUMAN		33	4744	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	UPI000013D3A4	1505			Extracellular (By similarity).		SNV	ABCA7,missense_variant,p.Arg1505Cys,ENST00000263094,NM_019112.3;ABCA7,missense_variant,p.Arg1505Cys,ENST00000433129,;ABCA7,missense_variant,p.Arg1367Cys,ENST00000435683,;ABCA7,upstream_gene_variant,,ENST00000525073,;ABCA7,upstream_gene_variant,,ENST00000532194,;ABCA7,downstream_gene_variant,,ENST00000530092,;ABCA7,upstream_gene_variant,,ENST00000529442,;	uc002lqw.3	c.4513C>T	4744/6816	2	2			c.4513C>T						19	SNP	c.(4513-4515)CGC>TGC	17	17			pancreas(7)|ovary(1)|central_nervous_system(1)	9	Broad	ATP-binding cassette, sub-family A, member 7			1056425		0.612	ENSG00000064687	37	g.chr19:1056425C>T	phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity							66.871908	KEEP	13	17	-1	16	20	13	17	-1	66.987273	16	20	0.446809	1	0	0	0	0	1	0	0	0	--	--		0	T			ABCA7_uc002lqy.2_5'Flank|ABCA7_uc010dsc.2_5'Flank	171	GBM-19-5951-TP	p.R1505C	C	AGGCCCGGCCCGCCACGCCCA	NM_019112	NP_061985	1056425	Q8IZY2	ABCA7_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	33	4744	+	T	T		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	Missense_Mutation	1505			Extracellular (By similarity).			
ABCA8	10351	broad.mit.edu	GRCh37	17	66928560	66928560	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-06-0686-01	TCGA-06-0686-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269080.2:c.666T>A	p.Thr222=	p.T222=	ENST00000269080	NM_007168.2	222	acT/acA	0			1			T	T	uc002jhp.2	protein_coding	YES	CCDS11680.1			666/4746									ovary(2)|skin(1)	3	c.(664-666)ACT>ACA			Pfam_domain:PF12698,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF115	ATP-binding cassette, sub-family A member 8				ENSP00000269080		Jun-38									COSM2151590,COSM3403152	Jun-38	.		ENST00000269080	Transcript				integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	ENSG00000141338	g.chr17:66928560A>T	38			LOW								--	--	1																																		ABCA8_uc002jhq.2_Silent_p.T222T|ABCA8_uc010wqq.1_Silent_p.T222T|ABCA8_uc010wqr.1_Silent_p.T161T|ABCA8_uc002jhr.2_Silent_p.T222T|ABCA8_uc002jhs.2_Silent_p.T222T|ABCA8_uc002jht.2_Silent_p.T222T	1,1	1			p.T222T	NM_007168	NP_009099			1,1	ABCA8_HUMAN	ABCA8	HGNC	O94911	ABCA8_HUMAN			K7ELK9_HUMAN		6	845	-	Breast(10;4.56e-13)		UPI000004C4B7	222			Helical; (Potential).		SNV	ABCA8,synonymous_variant,p.=,ENST00000269080,NM_007168.2;ABCA8,synonymous_variant,p.=,ENST00000586539,;ABCA8,synonymous_variant,p.=,ENST00000430352,;ABCA8,downstream_gene_variant,,ENST00000585531,;ABCA8,non_coding_transcript_exon_variant,,ENST00000541225,;ABCA8,non_coding_transcript_exon_variant,,ENST00000428549,;ABCA8,non_coding_transcript_exon_variant,,ENST00000585850,;ABCA8,upstream_gene_variant,,ENST00000589533,;	uc002jhp.2	c.666T>A	804/5677	1	1			c.666T>A						17	SNP	c.(664-666)ACT>ACA	13	13			ovary(2)|skin(1)	3	Broad	ATP-binding cassette, sub-family A member 8			66928560		0.363	ENSG00000141338	38	g.chr17:66928560A>T		integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances							128.682928	KEEP	26	17	-1	37	22	26	17	-1	129.333279	37	22	0.412371	1	0	0	0	0	0	0	1	0	--	--		0	T			ABCA8_uc002jhq.2_Silent_p.T222T|ABCA8_uc010wqq.1_Silent_p.T222T|ABCA8_uc010wqr.1_Silent_p.T161T|ABCA8_uc002jhr.2_Silent_p.T222T|ABCA8_uc002jhs.2_Silent_p.T222T|ABCA8_uc002jht.2_Silent_p.T222T	64	GBM-06-0686-TP	p.T222T	A	GGTACAAATCAGTTATAACTC	NM_007168	NP_009099	66928560	O94911	ABCA8_HUMAN	0			6	845	-	T	T	Breast(10;4.56e-13)		Silent	222			Helical; (Potential).			
ABCA8	0	broad.mit.edu	GRCh37	17	66924136	66924136	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-28-5216-01	TCGA-28-5216-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269080.2:c.1194T>A	p.Ile398=	p.I398=	ENST00000269080	NM_007168.2	398	atT/atA	0			1			T	I	uc002jhp.2	protein_coding	YES	CCDS11680.1			1194/4746									ovary(2)|skin(1)	3	c.(1192-1194)ATT>ATA			Pfam_domain:PF12698,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF115,Transmembrane_helices:TMhelix	ATP-binding cassette, sub-family A member 8				ENSP00000269080		Sep-38									COSM3403150,COSM3403151	Sep-38	.		ENST00000269080	Transcript				integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	ENSG00000141338	g.chr17:66924136A>T	38			LOW								--	--	1																																		ABCA8_uc002jhq.2_Silent_p.I398I|ABCA8_uc010wqq.1_Silent_p.I398I|ABCA8_uc010wqr.1_Silent_p.I337I|ABCA8_uc002jhr.2_Silent_p.I398I	1,1	1			p.I398I	NM_007168	NP_009099			1,1	ABCA8_HUMAN	ABCA8	HGNC	O94911	ABCA8_HUMAN			K7ELK9_HUMAN		9	1373	-	Breast(10;4.56e-13)		UPI000004C4B7	398			Helical; (Potential).		SNV	ABCA8,synonymous_variant,p.=,ENST00000269080,NM_007168.2;ABCA8,synonymous_variant,p.=,ENST00000586539,;ABCA8,synonymous_variant,p.=,ENST00000430352,;ABCA8,synonymous_variant,p.=,ENST00000589533,;ABCA8,non_coding_transcript_exon_variant,,ENST00000541225,;ABCA8,downstream_gene_variant,,ENST00000428549,;ABCA8,downstream_gene_variant,,ENST00000585850,;	uc002jhp.2	c.1194T>A	1332/5677	1	1			c.1194T>A						17	SNP	c.(1192-1194)ATT>ATA	3	3			ovary(2)|skin(1)	3	Broad	ATP-binding cassette, sub-family A member 8			66924136		0.328	ENSG00000141338	38	g.chr17:66924136A>T		integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances							264.738398	KEEP	36	58	-1	8	11	36	58	-1	273.773917	8	11	0.819149	1	0	0	0	0	0	0	1	0	--	--		0	T			ABCA8_uc002jhq.2_Silent_p.I398I|ABCA8_uc010wqq.1_Silent_p.I398I|ABCA8_uc010wqr.1_Silent_p.I337I|ABCA8_uc002jhr.2_Silent_p.I398I	223	GBM-28-5216-TP	p.I398I	A	TTGTTGCTACAATGAGATTTG	NM_007168	NP_009099	66924136	O94911	ABCA8_HUMAN	0			9	1373	-	T	T	Breast(10;4.56e-13)		Silent	398			Helical; (Potential).			
ABCA9	10350	broad.mit.edu	GRCh37	17	67012462	67012462	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01	TCGA-02-2483-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340001.4:c.2971A>G	p.Ser991Gly	p.S991G	ENST00000340001	NM_080283.3	991	Agc/Ggc	0			1			C	S/G	uc002jhu.2	protein_coding	YES	CCDS11681.1			2971/4875									ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	c.(2971-2973)AGC>GGC			Pfam_domain:PF12698,hmmpanther:PTHR19229:SF11,hmmpanther:PTHR19229	ATP-binding cassette, sub-family A, member 9				ENSP00000342216		22/39									COSM3403154	22/39	.		ENST00000340001	Transcript			transport	integral to membrane	ATP binding|ATPase activity	ENSG00000154258	g.chr17:67012462T>C	39			MODERATE		2.775	medium	getma.org/?cm=msa&ty=f&p=ABCA9_HUMAN&rb=917&re=1220&var=S991G	NA	getma.org/?cm=var&var=hg19,17,67012462,T,C&fts=all	S991G	--	--	1																																		ABCA9_uc010dez.2_Missense_Mutation_p.S991G	1	1		probably_damaging(0.993)	p.S991G	NM_080283	NP_525022		deleterious(0)	1	ABCA9_HUMAN	ABCA9	HGNC	Q8IUA7	ABCA9_HUMAN			K7EJJ0_HUMAN		22	3114	-	Breast(10;1.47e-12)		UPI00000747B1	991					SNV	ABCA9,missense_variant,p.Ser991Gly,ENST00000340001,NM_080283.3;ABCA9,missense_variant,p.Ser991Gly,ENST00000370732,;ABCA9,missense_variant,p.Ser991Gly,ENST00000453985,;ABCA9-AS1,intron_variant,,ENST00000458677,;ABCA9,non_coding_transcript_exon_variant,,ENST00000492580,;	uc002jhu.2	c.2971A>G	3183/6514	3	3			c.2971A>G						17	SNP	c.(2971-2973)AGC>GGC	54	54			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Broad	ATP-binding cassette, sub-family A, member 9			67012462		0.348	ENSG00000154258	39	g.chr17:67012462T>C	transport	integral to membrane	ATP binding|ATPase activity							-35.323102	KEEP	5	2	-1	104	107	5	2	-1	13.465773	104	107	0.029851	1	0	0	0	0	1	0	0	0	--	--		0	C			ABCA9_uc010dez.2_Missense_Mutation_p.S991G	6	GBM-02-2483-TP	p.S991G	T	AGTCCATTGCTAATGACATCC	NM_080283	NP_525022	67012462	Q8IUA7	ABCA9_HUMAN	0			22	3114	-	C	C	Breast(10;1.47e-12)		Missense_Mutation	991						
ABCA9	0	broad.mit.edu	GRCh37	17	67016638	67016638	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-1747-01	TCGA-28-1747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340001.4:c.2491G>A	p.Glu831Lys	p.E831K	ENST00000340001	NM_080283.3	831	Gaa/Aaa	0			1			T	E/K	uc002jhu.2	protein_coding	YES	CCDS11681.1			2491/4875									ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	c.(2491-2493)GAA>AAA			hmmpanther:PTHR19229:SF11,hmmpanther:PTHR19229	ATP-binding cassette, sub-family A, member 9				ENSP00000342216		19/39									COSM3403155	19/39	.		ENST00000340001	Transcript			transport	integral to membrane	ATP binding|ATPase activity	ENSG00000154258	g.chr17:67016638C>T	39			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=ABCA9_HUMAN&rb=796&re=916&var=E831K	NA	getma.org/?cm=var&var=hg19,17,67016638,C,T&fts=all	E831K	--	--	1																																		ABCA9_uc010dez.2_Missense_Mutation_p.E831K	1	1		benign(0.014)	p.E831K	NM_080283	NP_525022		tolerated(0.14)	1	ABCA9_HUMAN	ABCA9	HGNC	Q8IUA7	ABCA9_HUMAN			K7EJJ0_HUMAN		19	2634	-	Breast(10;1.47e-12)		UPI00000747B1	831					SNV	ABCA9,missense_variant,p.Glu831Lys,ENST00000340001,NM_080283.3;ABCA9,missense_variant,p.Glu831Lys,ENST00000370732,;ABCA9,missense_variant,p.Glu831Lys,ENST00000453985,;ABCA9-AS1,downstream_gene_variant,,ENST00000458677,;ABCA9,upstream_gene_variant,,ENST00000492580,;	uc002jhu.2	c.2491G>A	2703/6514	2	2			c.2491G>A						17	SNP	c.(2491-2493)GAA>AAA	27	27			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Broad	ATP-binding cassette, sub-family A, member 9			67016638		0.413	ENSG00000154258	39	g.chr17:67016638C>T	transport	integral to membrane	ATP binding|ATPase activity							230.498293	KEEP	51	37	-1	58	79	51	37	-1	233.409587	58	79	0.374408	1	0	0	0	0	1	0	0	0	--	--		0	T			ABCA9_uc010dez.2_Missense_Mutation_p.E831K	206	GBM-28-1747-TP	p.E831K	C	TTCCTTGTTTCGTGGAAGGAA	NM_080283	NP_525022	67016638	Q8IUA7	ABCA9_HUMAN	0			19	2634	-	T	T	Breast(10;1.47e-12)		Missense_Mutation	831						
ABCA9	0	broad.mit.edu	GRCh37	17	66981088	66981088	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2638-01	TCGA-32-2638-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340001.4:c.4317G>A	p.Pro1439=	p.P1439=	ENST00000340001	NM_080283.3	1439	ccG/ccA	0			1			T	P	uc002jhu.2	protein_coding	YES	CCDS11681.1			4317/4875									ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	c.(4315-4317)CCG>CCA			Superfamily_domains:SSF52540,SMART_domains:SM00382,Pfam_domain:PF00005,Gene3D:3.40.50.300,hmmpanther:PTHR19229:SF11,hmmpanther:PTHR19229,PROSITE_profiles:PS50893	ATP-binding cassette, sub-family A, member 9				ENSP00000342216		34/39	2.47E-05					3.00E-05		6.06E-05	rs756524839,COSM3403153	34/39	.		ENST00000340001	Transcript			transport	integral to membrane	ATP binding|ATPase activity	ENSG00000154258	g.chr17:66981088C>T	39			LOW								--	--	1																																		ABCA9_uc010dez.2_Silent_p.P1401P	0,1	1			p.P1439P	NM_080283	NP_525022			0,1	ABCA9_HUMAN	ABCA9	HGNC	Q8IUA7	ABCA9_HUMAN			K7EJJ0_HUMAN		34	4460	-	Breast(10;1.47e-12)		UPI00000747B1	1439			ABC transporter 2.		SNV	ABCA9,synonymous_variant,p.=,ENST00000340001,NM_080283.3;ABCA9,synonymous_variant,p.=,ENST00000453985,;ABCA9,intron_variant,,ENST00000370732,;ABCA9,downstream_gene_variant,,ENST00000482072,;ABCA9,downstream_gene_variant,,ENST00000460872,;	uc002jhu.2	c.4317G>A	4529/6514	2	2			c.4317G>A						17	SNP	c.(4315-4317)CCG>CCA	36	36			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Broad	ATP-binding cassette, sub-family A, member 9			66981088		0.587	ENSG00000154258	39	g.chr17:66981088C>T	transport	integral to membrane	ATP binding|ATPase activity							141.752499	KEEP	28	26	-1	45	44	28	26	-1	142.862452	45	44	0.398374	1	0	0	0	0	0	0	1	0	--	--		0	T			ABCA9_uc010dez.2_Silent_p.P1401P	242	GBM-32-2638-TP	p.P1439P	C	GCACCACTGACGGGTTCCCCA	NM_080283	NP_525022	66981088	Q8IUA7	ABCA9_HUMAN	0			34	4460	-	T	T	Breast(10;1.47e-12)		Silent	1439			ABC transporter 2.			
ABCB1	5243	broad.mit.edu	GRCh37	7	87190658	87190658	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0192-01	TCGA-06-0192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265724.3:c.748del	p.Ala250LeufsTer4	p.A250Lfs*4	ENST00000265724	NM_000927.4	250	Gct/ct	0			1			-	A/X	uc003uiz.1	protein_coding	YES	CCDS5608.1			748/3843								p.A250T(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	c.(748-750)GCTfs			PROSITE_profiles:PS50929,Pfam_domain:PF00664,Gene3D:2hydA01,Superfamily_domains:SSF90123	ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)			ENSP00000265724		29-Sep										29-Sep	.		ENST00000265724	Transcript	1		G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	ENSG00000085563	g.chr7:87190658delC	40			HIGH								--	--	1																																		ABCB1_uc011khc.1_Frame_Shift_Del_p.A186fs		1			p.A250fs	NM_000927	NP_000918				MDR1_HUMAN	ABCB1	HGNC	P08183	MDR1_HUMAN			Q6TBL4_HUMAN,E7EWT8_HUMAN,B5U2G4_HUMAN,A4D1D2_HUMAN		9	1166	-	Esophageal squamous(14;0.00164)		UPI000013D66C	250			ABC transmembrane type-1 1.		deletion	ABCB1,frameshift_variant,p.Ala250LeufsTer4,ENST00000265724,NM_000927.4;ABCB1,frameshift_variant,p.Ala186LeufsTer4,ENST00000543898,;	uc003uiz.1	c.748delG	1166/4645	5	5			c.748delG						7	DEL	c.(748-750)GCTfs	15	15		p.A250T(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Broad	ATP-binding cassette, subfamily B, member 1		Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	87190658		0.318	ENSG00000085563	40	g.chr7:87190658delC	G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity																				0.15	1	1	0	1	0	0	0	0	0	--	--		0	-			ABCB1_uc011khc.1_Frame_Shift_Del_p.A186fs	44	GBM-06-0192-TP	p.A250fs	C	ACTGCTCCAGCTTTTGCATAC	NM_000927	NP_000918	87190658	P08183	MDR1_HUMAN	0			9	1166	-	-	-	Esophageal squamous(14;0.00164)		Frame_Shift_Del	250			ABC transmembrane type-1 1.			
ABCB1	5243	broad.mit.edu	GRCh37	7	87190619	87190619	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0745-01	TCGA-06-0745-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265724.3:c.787A>T	p.Thr263Ser	p.T263S	ENST00000265724	NM_000927.4	263	Act/Tct	0			1			A	T/S	uc003uiz.1	protein_coding	YES	CCDS5608.1			787/3843									ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	c.(787-789)ACT>TCT			PROSITE_profiles:PS50929,Pfam_domain:PF00664,Gene3D:2hydA01,Superfamily_domains:SSF90123	ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)			ENSP00000265724		29-Sep									COSM3412444	29-Sep	.		ENST00000265724	Transcript	1		G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	ENSG00000085563	g.chr7:87190619T>A	40			MODERATE		3.64	high	getma.org/?cm=msa&ty=f&p=MDR1_HUMAN&rb=51&re=345&var=T263S	getma.org/pdb.php?prot=MDR1_HUMAN&from=51&to=345&var=T263S	getma.org/?cm=var&var=hg19,7,87190619,T,A&fts=all	T263S	--	--	1																																		ABCB1_uc011khc.1_Missense_Mutation_p.T199S	1	1		possibly_damaging(0.821)	p.T263S	NM_000927	NP_000918		deleterious(0.01)	1	MDR1_HUMAN	ABCB1	HGNC	P08183	MDR1_HUMAN			Q6TBL4_HUMAN,E7EWT8_HUMAN,B5U2G4_HUMAN,A4D1D2_HUMAN		9	1205	-	Esophageal squamous(14;0.00164)		UPI000013D66C	263			ABC transmembrane type-1 1.		SNV	ABCB1,missense_variant,p.Thr263Ser,ENST00000265724,NM_000927.4;ABCB1,missense_variant,p.Thr199Ser,ENST00000543898,;	uc003uiz.1	c.787A>T	1205/4645	2	2			c.787A>T						7	SNP	c.(787-789)ACT>TCT	17	17			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Broad	ATP-binding cassette, subfamily B, member 1		Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	87190619		0.343	ENSG00000085563	40	g.chr7:87190619T>A	G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity							-5.586223	KEEP	2	3	-1	58	24	2	3	-1	10.099107	58	24	0.063291	1	0	0	0	0	1	0	0	0	--	--		0	A			ABCB1_uc011khc.1_Missense_Mutation_p.T199S	67	GBM-06-0745-TP	p.T263S	T	GCAATCACAGTTCTAATTGCT	NM_000927	NP_000918	87190619	P08183	MDR1_HUMAN	0			9	1205	-	A	A	Esophageal squamous(14;0.00164)		Missense_Mutation	263			ABC transmembrane type-1 1.			
ABCB1	5243	broad.mit.edu	GRCh37	7	87133728	87133728	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01	TCGA-06-2570-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265724.3:c.3674G>A	p.Arg1225His	p.R1225H	ENST00000265724	NM_000927.4	1225	cGc/cAc	0			1			T	R/H	uc003uiz.1	protein_coding	YES	CCDS5608.1			3674/3843									ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	c.(3673-3675)CGC>CAC			PROSITE_profiles:PS50893,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF155,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)			ENSP00000265724		29/29	8.24E-06					1.50E-05			rs779103120,COSM1452575	29/29	.		ENST00000265724	Transcript	1		G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	ENSG00000085563	g.chr7:87133728C>T	40			MODERATE		1.295	low	getma.org/?cm=msa&ty=f&p=MDR1_HUMAN&rb=1035&re=1273&var=R1225H	getma.org/pdb.php?prot=MDR1_HUMAN&from=1035&to=1273&var=R1225H	getma.org/?cm=var&var=hg19,7,87133728,C,T&fts=all	R1225H	--	--	1																																		ABCB1_uc011khc.1_Missense_Mutation_p.R1161H	0,1	1		probably_damaging(0.99)	p.R1225H	NM_000927	NP_000918		deleterious(0.01)	0,1	MDR1_HUMAN	ABCB1	HGNC	P08183	MDR1_HUMAN			Q6TBL4_HUMAN,E7EWT8_HUMAN,B5U2G4_HUMAN,A4D1D2_HUMAN		29	4092	-	Esophageal squamous(14;0.00164)		UPI000013D66C	1225			Cytoplasmic (Potential).|ABC transporter 2.		SNV	ABCB1,missense_variant,p.Arg1225His,ENST00000265724,NM_000927.4;ABCB1,missense_variant,p.Arg1161His,ENST00000543898,;ABCB1,non_coding_transcript_exon_variant,,ENST00000488737,;ABCB1,downstream_gene_variant,,ENST00000475929,;ABCB1,non_coding_transcript_exon_variant,,ENST00000491360,;	uc003uiz.1	c.3674G>A	4092/4645	1	1			c.3674G>A						7	SNP	c.(3673-3675)CGC>CAC	7	7			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Broad	ATP-binding cassette, subfamily B, member 1		Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	87133728		0.453	ENSG00000085563	40	g.chr7:87133728C>T	G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity							-21.233986	KEEP	3	5	-1	84	73	3	5	-1	10.388518	84	73	0.036765	1	0	0	0	0	1	0	0	0	--	--		0	T			ABCB1_uc011khc.1_Missense_Mutation_p.R1161H	91	GBM-06-2570-TP	p.R1225H	C	AATGCAGGTGCGGCCTTCTCT	NM_000927	NP_000918	87133728	P08183	MDR1_HUMAN	0			29	4092	-	T	T	Esophageal squamous(14;0.00164)		Missense_Mutation	1225			Cytoplasmic (Potential).|ABC transporter 2.			
ABCB1	0	broad.mit.edu	GRCh37	7	87179839	87179839	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-12-3653-01	TCGA-12-3653-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265724.3:c.1169G>C	p.Gly390Ala	p.G390A	ENST00000265724	NM_000927.4	390	gGa/gCa	0			1			G	G/A	uc003uiz.1	protein_coding	YES	CCDS5608.1			1169/3843									ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	c.(1168-1170)GGA>GCA			Superfamily_domains:SSF52540	ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)			ENSP00000265724		29-Dec									COSM3412443	29-Dec	.		ENST00000265724	Transcript	1		G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	ENSG00000085563	g.chr7:87179839C>G	40			MODERATE		2.29	medium	getma.org/?cm=msa&ty=f&p=MDR1_HUMAN&rb=346&re=433&var=G390A	getma.org/pdb.php?prot=MDR1_HUMAN&from=346&to=433&var=G390A	getma.org/?cm=var&var=hg19,7,87179839,C,G&fts=all	G390A	--	--	1																																		ABCB1_uc011khc.1_Missense_Mutation_p.G326A	1	1		probably_damaging(0.98)	p.G390A	NM_000927	NP_000918		deleterious(0)	1	MDR1_HUMAN	ABCB1	HGNC	P08183	MDR1_HUMAN			Q6TBL4_HUMAN,E7EWT8_HUMAN,B5U2G4_HUMAN,A4D1D2_HUMAN		12	1587	-	Esophageal squamous(14;0.00164)		UPI000013D66C	390			Cytoplasmic (Potential).		SNV	ABCB1,missense_variant,p.Gly390Ala,ENST00000265724,NM_000927.4;ABCB1,missense_variant,p.Gly326Ala,ENST00000543898,;ABCB1,upstream_gene_variant,,ENST00000482527,;	uc003uiz.1	c.1169G>C	1587/4645	3	3			c.1169G>C						7	SNP	c.(1168-1170)GGA>GCA	13	13			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Broad	ATP-binding cassette, subfamily B, member 1		Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	87179839		0.313	ENSG00000085563	40	g.chr7:87179839C>G	G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity							29.705693	KEEP	18	13	-1	168	137	18	13	-1	77.476145	168	137	0.09375	1	0	0	0	0	1	0	0	0	--	--		0	G			ABCB1_uc011khc.1_Missense_Mutation_p.G326A	128	GBM-12-3653-TP	p.G390A	C	TTCCAAATTTCCCTTAATATT	NM_000927	NP_000918	87179839	P08183	MDR1_HUMAN	0			12	1587	-	G	G	Esophageal squamous(14;0.00164)		Missense_Mutation	390			Cytoplasmic (Potential).			
ABCB1	0	broad.mit.edu	GRCh37	7	87214993	87214993	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01	TCGA-16-1045-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265724.3:c.121C>T	p.Arg41Cys	p.R41C	ENST00000265724	NM_000927.4	41	Cgc/Tgc	0			1			A	R/C	uc003uiz.1	protein_coding	YES	CCDS5608.1			121/3843									ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	c.(121-123)CGC>TGC			Gene3D:2hydA01,Superfamily_domains:SSF90123	ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)			ENSP00000265724		29-May	1.65E-05					3.06E-05			rs761584848,COSM1698853	29-May	.		ENST00000265724	Transcript	1		G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	ENSG00000085563	g.chr7:87214993G>A	40			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=MDR1_HUMAN&rb=1&re=50&var=R41C	NA	getma.org/?cm=var&var=hg19,7,87214993,G,A&fts=all	R41C	--	--	1																																		ABCB1_uc011khc.1_Missense_Mutation_p.R41C	0,1	1		probably_damaging(0.994)	p.R41C	NM_000927	NP_000918		deleterious(0.01)	0,1	MDR1_HUMAN	ABCB1	HGNC	P08183	MDR1_HUMAN			Q6TBL4_HUMAN,E7EWT8_HUMAN,B5U2G4_HUMAN,A4D1D2_HUMAN		5	539	-	Esophageal squamous(14;0.00164)		UPI000013D66C	41			Cytoplasmic (Potential).		SNV	ABCB1,missense_variant,p.Arg41Cys,ENST00000265724,NM_000927.4;ABCB1,missense_variant,p.Arg41Cys,ENST00000543898,;ABCB1,missense_variant,p.Arg41Cys,ENST00000416177,;	uc003uiz.1	c.121C>T	539/4645	2	2			c.121C>T						7	SNP	c.(121-123)CGC>TGC	24	24			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Broad	ATP-binding cassette, subfamily B, member 1		Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	87214993		0.328	ENSG00000085563	40	g.chr7:87214993G>A	G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity							-7.56874	KEEP	2	4	-1	54	62	2	4	-1	9.059517	54	62	0.051282	1	0	0	0	0	1	0	0	0	--	--		0	A			ABCB1_uc011khc.1_Missense_Mutation_p.R41C	157	GBM-16-1045-TP	p.R41C	G	TTTGAATAGCGAAACTAAAAA	NM_000927	NP_000918	87214993	P08183	MDR1_HUMAN	0			5	539	-	A	A	Esophageal squamous(14;0.00164)		Missense_Mutation	41			Cytoplasmic (Potential).			
ABCB1	0	broad.mit.edu	GRCh37	7	87179256	87179256	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs142600685	byFrequency	TCGA-27-1835-01	TCGA-27-1835-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265724.3:c.1465C>T	p.Arg489Cys	p.R489C	ENST00000265724	NM_000927.4	489	Cgc/Tgc	0	A:0.0014	A:0.0008	1	A:0		A	R/C	uc003uiz.1	protein_coding	YES	CCDS5608.1			1465/3843									ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	c.(1465-1467)CGC>TGC			PROSITE_profiles:PS50893,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF155,Pfam_domain:PF00005,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	A:0	A:0	ENSP00000265724	A:0	14/29	0.00056	0.000865	0.000259		0.000151	0.000809	0.0011		rs142600685,COSM1092624	14/29	common_variant		ENST00000265724	Transcript	1	A:0.0002	G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	ENSG00000085563	g.chr7:87179256G>A	40			MODERATE		1.97	medium	getma.org/?cm=msa&ty=f&p=MDR1_HUMAN&rb=434&re=559&var=R489C	getma.org/pdb.php?prot=MDR1_HUMAN&from=434&to=559&var=R489C	getma.org/?cm=var&var=hg19,7,87179256,G,A&fts=all	R489C	--	--	1																																		ABCB1_uc011khc.1_Missense_Mutation_p.R425C	0,1	1		possibly_damaging(0.775)	p.R489C	NM_000927	NP_000918	A:0	deleterious(0.02)	0,1	MDR1_HUMAN	ABCB1	HGNC	P08183	MDR1_HUMAN			Q6TBL4_HUMAN,E7EWT8_HUMAN,B5U2G4_HUMAN,A4D1D2_HUMAN		14	1883	-	Esophageal squamous(14;0.00164)		UPI000013D66C	489			ABC transporter 1.|Cytoplasmic (Potential).		SNV	ABCB1,missense_variant,p.Arg489Cys,ENST00000265724,NM_000927.4;ABCB1,missense_variant,p.Arg425Cys,ENST00000543898,;ABCB1,non_coding_transcript_exon_variant,,ENST00000482527,;	uc003uiz.1	c.1465C>T	1883/4645	2	2			c.1465C>T						7	SNP	c.(1465-1467)CGC>TGC	45	45			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Broad	ATP-binding cassette, subfamily B, member 1		Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	87179256		0.428	ENSG00000085563	40	g.chr7:87179256G>A	G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity							194.260477	KEEP	42	42	-1	136	140	42	42	-1	215.634614	136	140	0.235821	1	0	0	0	0	1	0	0	0	--	--		0	A			ABCB1_uc011khc.1_Missense_Mutation_p.R425C	194	GBM-27-1835-TP	p.R489C	G	CGGCCATAGCGAATGTTTTCA	NM_000927	NP_000918	87179256	P08183	MDR1_HUMAN	0			14	1883	-	A	A	Esophageal squamous(14;0.00164)		Missense_Mutation	489			ABC transporter 1.|Cytoplasmic (Potential).			
ABCB1	5243		GRCh37	7	87174224	87174224	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000265724.3:c.1979C>G	p.Ser660Cys	p.S660C	ENST00000265724	NM_000927.4	660	tCc/tGc	0																																																																																																																																																																																																																																												
ABCB11	8647		GRCh37	2	169814525	169814525	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000263817.6:c.2292G>A	p.Val764=	p.V764=	ENST00000263817	NM_003742.2	764	gtG/gtA	0																																																																																																																																																																																																																																												
ABCB11	8647		GRCh37	2	169791877	169791877	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000263817.6:c.2873G>A	p.Arg958Gln	p.R958Q	ENST00000263817	NM_003742.2	958	cGg/cAg	0																																																																																																																																																																																																																																												
ABCB4	5244	broad.mit.edu	GRCh37	7	87104766	87104766	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01	TCGA-06-0124-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265723.4:c.16G>A	p.Ala6Thr	p.A6T	ENST00000265723	NM_000443.3	6	Gca/Aca	0			1			T	A/T	uc003uiv.1	protein_coding	YES	CCDS5606.1			16/3861									ovary(4)|skin(1)|pancreas(1)	6	c.(16-18)GCA>ACA				ATP-binding cassette, subfamily B, member 4				ENSP00000265723		28-Feb									COSM3412441	28-Feb	.		ENST00000265723	Transcript	1		cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	ENSG00000005471	g.chr7:87104766C>T	45			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=MDR3_HUMAN&rb=1&re=56&var=A6T	NA	getma.org/?cm=var&var=hg19,7,87104766,C,T&fts=all	A6T	--	--	1																																		ABCB4_uc003uiw.1_Missense_Mutation_p.A6T|ABCB4_uc003uix.1_Missense_Mutation_p.A6T|ABCB4_uc003uiy.2_Missense_Mutation_p.A6T	1	1		benign(0.021)	p.A6T	NM_018849	NP_061337		tolerated_low_confidence(0.24)	1	MDR3_HUMAN	ABCB4	HGNC	P21439	MDR3_HUMAN			Q75MQ5_HUMAN,I7D7J8_HUMAN,I7CY13_HUMAN,I7CAJ8_HUMAN,E7EQI1_HUMAN,A8HT68_HUMAN,A7J1S3_HUMAN,A7J1S1_HUMAN,A7J1Q4_HUMAN		2	92	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		UPI000013D66B	6			Cytoplasmic (By similarity).		SNV	ABCB4,missense_variant,p.Ala6Thr,ENST00000265723,NM_000443.3,NM_018849.2;ABCB4,missense_variant,p.Ala6Thr,ENST00000359206,;ABCB4,missense_variant,p.Ala6Thr,ENST00000545634,;ABCB4,missense_variant,p.Ala6Thr,ENST00000358400,NM_018850.2;ABCB4,missense_variant,p.Ala6Thr,ENST00000453593,;ABCB4,missense_variant,p.Ala6Thr,ENST00000417608,;ABCB4,non_coding_transcript_exon_variant,,ENST00000473795,;	uc003uiv.1	c.16G>A	128/4020	1	1			c.16G>A						7	SNP	c.(16-18)GCA>ACA	8	8			ovary(4)|skin(1)|pancreas(1)	6	Broad	ATP-binding cassette, subfamily B, member 4			87104766		0.647	ENSG00000005471	43	g.chr7:87104766C>T	cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity							-12.780374	KEEP	2	3	-1	60	43	2	3	-1	7.769235	60	43	0.043478	1	0	0	0	0	1	0	0	0	--	--		0	T			ABCB4_uc003uiw.1_Missense_Mutation_p.A6T|ABCB4_uc003uix.1_Missense_Mutation_p.A6T|ABCB4_uc003uiy.2_Missense_Mutation_p.A6T	11	GBM-06-0124-TP	p.A6T	C	CCGTTCTTTGCCGCCTCAAGA	NM_018849	NP_061337	87104766	P21439	MDR3_HUMAN	0			2	92	-	T	T	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		Missense_Mutation	6			Cytoplasmic (By similarity).			
ABCB4	5244	broad.mit.edu	GRCh37	7	87060779	87060779	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01	TCGA-06-0195-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265723.4:c.1834G>A	p.Gly612Arg	p.G612R	ENST00000265723	NM_000443.3	612	Gga/Aga	0			1			T	G/R	uc003uiv.1	protein_coding	YES	CCDS5606.1			1834/3861									ovary(4)|skin(1)|pancreas(1)	6	c.(1834-1836)GGA>AGA			PROSITE_profiles:PS50893,hmmpanther:PTHR24221:SF172,hmmpanther:PTHR24221,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	ATP-binding cassette, subfamily B, member 4				ENSP00000265723		15/28									COSM3412437	15/28	.		ENST00000265723	Transcript	1		cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	ENSG00000005471	g.chr7:87060779C>T	45			MODERATE		3.165	medium	getma.org/?cm=msa&ty=f&p=MDR3_HUMAN&rb=394&re=630&var=G612R	getma.org/pdb.php?prot=MDR3_HUMAN&from=394&to=630&var=G612R	getma.org/?cm=var&var=hg19,7,87060779,C,T&fts=all	G612R	--	--	1																																		ABCB4_uc003uiw.1_Missense_Mutation_p.G612R|ABCB4_uc003uix.1_Missense_Mutation_p.G612R	1	1		probably_damaging(1)	p.G612R	NM_018849	NP_061337		deleterious(0)	1	MDR3_HUMAN	ABCB4	HGNC	P21439	MDR3_HUMAN			Q75MQ5_HUMAN,I7D7J8_HUMAN,I7CY13_HUMAN,I7CAJ8_HUMAN,E7EQI1_HUMAN,A8HT68_HUMAN,A7J1S3_HUMAN,A7J1S1_HUMAN,A7J1Q4_HUMAN		15	1910	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		UPI000013D66B	612			ABC transporter 1.|Cytoplasmic (By similarity).		SNV	ABCB4,missense_variant,p.Gly612Arg,ENST00000265723,NM_000443.3,NM_018849.2;ABCB4,missense_variant,p.Gly612Arg,ENST00000359206,;ABCB4,missense_variant,p.Gly612Arg,ENST00000545634,;ABCB4,missense_variant,p.Gly612Arg,ENST00000358400,NM_018850.2;ABCB4,missense_variant,p.Gly612Arg,ENST00000453593,;ABCB4,non_coding_transcript_exon_variant,,ENST00000469770,;	uc003uiv.1	c.1834G>A	1946/4020	1	1			c.1834G>A						7	SNP	c.(1834-1836)GGA>AGA	5	5			ovary(4)|skin(1)|pancreas(1)	6	Broad	ATP-binding cassette, subfamily B, member 4			87060779		0.478	ENSG00000005471	43	g.chr7:87060779C>T	cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity							159.785767	KEEP	50	35	-1	85	102	50	35	-1	170.333958	85	102	0.266355	1	0	0	0	0	1	0	0	0	--	--		0	T			ABCB4_uc003uiw.1_Missense_Mutation_p.G612R|ABCB4_uc003uix.1_Missense_Mutation_p.G612R	45	GBM-06-0195-TP	p.G612R	C	CTGTGGCTTCCTTGCTCCACA	NM_018849	NP_061337	87060779	P21439	MDR3_HUMAN	0			15	1910	-	T	T	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		Missense_Mutation	612			ABC transporter 1.|Cytoplasmic (By similarity).			
ABCB4	5244	broad.mit.edu	GRCh37	7	87069034	87069034	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2570-01	TCGA-06-2570-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265723.4:c.1680G>A	p.Thr560=	p.T560=	ENST00000265723	NM_000443.3	560	acG/acA	0			1			T	T	uc003uiv.1	protein_coding	YES	CCDS5606.1			1680/3861									ovary(4)|skin(1)|pancreas(1)	6	c.(1678-1680)ACG>ACA			PROSITE_profiles:PS50893,hmmpanther:PTHR24221:SF172,hmmpanther:PTHR24221,Gene3D:3.40.50.300,Pfam_domain:PF00005,SMART_domains:SM00382,Superfamily_domains:SSF52540	ATP-binding cassette, subfamily B, member 4				ENSP00000265723		14/28									COSM2153130	14/28	.		ENST00000265723	Transcript	1		cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	ENSG00000005471	g.chr7:87069034C>T	45			LOW								--	--	1																																		ABCB4_uc003uiw.1_Silent_p.T560T|ABCB4_uc003uix.1_Silent_p.T560T	1	1			p.T560T	NM_018849	NP_061337			1	MDR3_HUMAN	ABCB4	HGNC	P21439	MDR3_HUMAN			Q75MQ5_HUMAN,I7D7J8_HUMAN,I7CY13_HUMAN,I7CAJ8_HUMAN,E7EQI1_HUMAN,A8HT68_HUMAN,A7J1S3_HUMAN,A7J1S1_HUMAN,A7J1Q4_HUMAN		14	1756	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		UPI000013D66B	560			ABC transporter 1.|Cytoplasmic (By similarity).		SNV	ABCB4,synonymous_variant,p.=,ENST00000265723,NM_000443.3,NM_018849.2;ABCB4,synonymous_variant,p.=,ENST00000359206,;ABCB4,synonymous_variant,p.=,ENST00000545634,;ABCB4,synonymous_variant,p.=,ENST00000358400,NM_018850.2;ABCB4,synonymous_variant,p.=,ENST00000453593,;	uc003uiv.1	c.1680G>A	1792/4020	2	2			c.1680G>A						7	SNP	c.(1678-1680)ACG>ACA	45	45			ovary(4)|skin(1)|pancreas(1)	6	Broad	ATP-binding cassette, subfamily B, member 4			87069034		0.537	ENSG00000005471	43	g.chr7:87069034C>T	cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity							219.982421	KEEP	51	38	-1	61	57	51	38	-1	220.996602	61	57	0.420765	1	0	0	0	0	0	0	1	0	--	--		0	T			ABCB4_uc003uiw.1_Silent_p.T560T|ABCB4_uc003uix.1_Silent_p.T560T	91	GBM-06-2570-TP	p.T560T	C	CCAATGCTGACGTGGCCTCAT	NM_018849	NP_061337	87069034	P21439	MDR3_HUMAN	0			14	1756	-	T	T	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		Silent	560			ABC transporter 1.|Cytoplasmic (By similarity).			
ABCB4	0	broad.mit.edu	GRCh37	7	87074204	87074204	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-5209-01	TCGA-28-5209-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265723.4:c.1093T>C	p.Tyr365His	p.Y365H	ENST00000265723	NM_000443.3	365	Tat/Cat	0			1			G	Y/H	uc003uiv.1	protein_coding	YES	CCDS5606.1			1093/3861									ovary(4)|skin(1)|pancreas(1)	6	c.(1093-1095)TAT>CAT			Gene3D:2hydA01,Superfamily_domains:SSF90123	ATP-binding cassette, subfamily B, member 4				ENSP00000265723		28-Oct									COSM3412438	28-Oct	.		ENST00000265723	Transcript	1		cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	ENSG00000005471	g.chr7:87074204A>G	45			MODERATE		-0.68	neutral	getma.org/?cm=msa&ty=f&p=MDR3_HUMAN&rb=351&re=435&var=Y365H	getma.org/pdb.php?prot=MDR3_HUMAN&from=351&to=435&var=Y365H	getma.org/?cm=var&var=hg19,7,87074204,A,G&fts=all	Y365H	--	--	1																																		ABCB4_uc003uiw.1_Missense_Mutation_p.Y365H|ABCB4_uc003uix.1_Missense_Mutation_p.Y365H	1	1		benign(0.013)	p.Y365H	NM_018849	NP_061337		tolerated(0.13)	1	MDR3_HUMAN	ABCB4	HGNC	P21439	MDR3_HUMAN			Q75MQ5_HUMAN,I7D7J8_HUMAN,I7CY13_HUMAN,I7CAJ8_HUMAN,E7EQI1_HUMAN,A8HT68_HUMAN,A7J1S3_HUMAN,A7J1S1_HUMAN,A7J1Q4_HUMAN		10	1169	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		UPI000013D66B	365			Cytoplasmic (By similarity).		SNV	ABCB4,missense_variant,p.Tyr365His,ENST00000265723,NM_000443.3,NM_018849.2;ABCB4,missense_variant,p.Tyr365His,ENST00000359206,;ABCB4,missense_variant,p.Tyr365His,ENST00000545634,;ABCB4,missense_variant,p.Tyr365His,ENST00000358400,NM_018850.2;ABCB4,missense_variant,p.Tyr365His,ENST00000453593,;	uc003uiv.1	c.1093T>C	1205/4020	3	3			c.1093T>C						7	SNP	c.(1093-1095)TAT>CAT	61	61			ovary(4)|skin(1)|pancreas(1)	6	Broad	ATP-binding cassette, subfamily B, member 4			87074204		0.343	ENSG00000005471	43	g.chr7:87074204A>G	cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity							78.263273	KEEP	19	9	-1	44	35	19	9	-1	83.190956	44	35	0.258065	1	0	0	0	0	1	0	0	0	--	--		0	G			ABCB4_uc003uiw.1_Missense_Mutation_p.Y365H|ABCB4_uc003uix.1_Missense_Mutation_p.Y365H	218	GBM-28-5209-TP	p.Y365H	A	AAGATCACATATGCTGCTCCT	NM_018849	NP_061337	87074204	P21439	MDR3_HUMAN	0			10	1169	-	G	G	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		Missense_Mutation	365			Cytoplasmic (By similarity).			
ABCB4	5244		GRCh37	7	87049323	87049323	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000265723.4:c.2385G>A	p.Met795Ile	p.M795I	ENST00000265723	NM_000443.3	795	atG/atA	0																																																																																																																																																																																																																																												
ABCB5	340273	broad.mit.edu	GRCh37	7	20689724	20689724	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs144527025	by1000genomes	TCGA-06-0185-01	TCGA-06-0185-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000404938.2:c.1286C>T	p.Thr429Met	p.T429M	ENST00000404938	NM_001163941.1	429	aCg/aTg	0	T:0.0048	T:0.0068	1	T:0		T	T/M	uc003suw.3	protein_coding	YES	CCDS55090.1			1286/3774									skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6	c.(-51--47)TACGG>TATGG			Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_profiles:PS50893,SMART_domains:SM00382,Superfamily_domains:SSF52540	ATP-binding cassette, sub-family B, member 5		T:0	T:0	ENSP00000384881	T:0	28-Dec	0.000407	0.00473	0.000175					6.08E-05	rs144527025,COSM3411899	28-Dec	common_variant		ENST00000404938	Transcript		T:0.0018	regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	ENSG00000004846	g.chr7:20689724C>T	46			MODERATE		3.425	medium	getma.org/?cm=msa&ty=f&p=A4D132_HUMAN&rb=390&re=438&var=T429M	getma.org/pdb.php?prot=A4D132_HUMAN&from=390&to=438&var=T429M	getma.org/?cm=var&var=hg19,7,20689724,C,T&fts=all	T429M	--	--	1																																		ABCB5_uc010kuh.2_Missense_Mutation_p.T429M|ABCB5_uc003suv.3_Translation_Start_Site|ABCB5_uc011jyi.1_Translation_Start_Site	0,1	1		probably_damaging(1)		NM_178559	NP_848654	T:0	deleterious(0)	0,1	ABCB5_HUMAN	ABCB5	HGNC	Q2M3G0	ABCB5_HUMAN					3	497	+			UPI000173A253						SNV	ABCB5,missense_variant,p.Thr429Met,ENST00000404938,NM_001163941.1;ABCB5,5_prime_UTR_variant,,ENST00000258738,NM_178559.5;ABCB5,5_prime_UTR_variant,,ENST00000443026,NM_001163942.1;ABCB5,5_prime_UTR_variant,,ENST00000406935,NM_001163993.1;ABCB5,non_coding_transcript_exon_variant,,ENST00000477094,;	uc003suw.3	c.-49C>T	1938/5811	2	2			c.-49C>T						7	SNP	c.(-51--47)TACGG>TATGG	17	17			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6	Broad	ATP-binding cassette, sub-family B, member 5			20689724		0.468	ENSG00000004846	44	g.chr7:20689724C>T	regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity							22.09014	KEEP	10	8	-1	58	61	10	8	-1	36.960109	58	61	0.141667	1	0	0	0	0	0	0	0	0	--	--		0	T			ABCB5_uc010kuh.2_Missense_Mutation_p.T429M|ABCB5_uc003suv.3_Translation_Start_Site|ABCB5_uc011jyi.1_Translation_Start_Site	40	GBM-06-0185-TP		C	GGGAAGAGTACGGTAGTCCAG	NM_178559	NP_848654	20689724	Q2M3G0	ABCB5_HUMAN	0			3	497	+	T	T			Translation_Start_Site							
ABCB5	340273	broad.mit.edu	GRCh37	7	20778686	20778686	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0190-01	TCGA-06-0190-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000404938.2:c.2948C>T	p.Ser983Leu	p.S983L	ENST00000404938	NM_001163941.1	983	tCg/tTg	0			1			T	S/L	uc003suw.3	protein_coding	YES	CCDS55090.1			2948/3774									skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6	c.(1612-1614)TCG>TTG			Gene3D:2hydA01,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF2,Superfamily_domains:SSF90123	ATP-binding cassette, sub-family B, member 5				ENSP00000384881		24/28									COSM3411903,COSM3411902	24/28	.		ENST00000404938	Transcript			regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	ENSG00000004846	g.chr7:20778686C>T	46			MODERATE		1.05	low	getma.org/?cm=msa&ty=f&p=ABCB5_HUMAN&rb=524&re=611&var=S538L	getma.org/pdb.php?prot=ABCB5_HUMAN&from=524&to=611&var=S538L	getma.org/?cm=var&var=hg19,7,20778686,C,T&fts=all	S538L	--	--	1																																		ABCB5_uc010kuh.2_Missense_Mutation_p.S983L	1,1	1		benign(0.03)	p.S538L	NM_178559	NP_848654		tolerated(0.36)	1,1	ABCB5_HUMAN	ABCB5	HGNC	Q2M3G0	ABCB5_HUMAN					15	2159	+			UPI000173A253	538			Cytoplasmic (Potential).		SNV	ABCB5,missense_variant,p.Ser983Leu,ENST00000404938,NM_001163941.1;ABCB5,missense_variant,p.Ser538Leu,ENST00000258738,NM_178559.5;ABCB5,missense_variant,p.Ser150Leu,ENST00000441315,;	uc003suw.3	c.1613C>T	3600/5811	2	2			c.1613C>T						7	SNP	c.(1612-1614)TCG>TTG	36	36			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6	Broad	ATP-binding cassette, sub-family B, member 5			20778686		0.423	ENSG00000004846	44	g.chr7:20778686C>T	regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity							15.26884	KEEP	8	3	-1	40	36	8	3	-1	26.392163	40	36	0.130952	1	0	0	0	0	1	0	0	0	--	--		0	T			ABCB5_uc010kuh.2_Missense_Mutation_p.S983L	43	GBM-06-0190-TP	p.S538L	C	AAAGCCAAATCGGGGGCTGCG	NM_178559	NP_848654	20778686	Q2M3G0	ABCB5_HUMAN	0			15	2159	+	T	T			Missense_Mutation	538			Cytoplasmic (Potential).			
ABCB5	0	broad.mit.edu	GRCh37	7	20744386	20744386	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000404938.2:c.2377G>A	p.Gly793Ser	p.G793S	ENST00000404938	NM_001163941.1	793	Ggc/Agc	0			1			A	G/S	uc003suw.3	protein_coding	YES	CCDS55090.1			2377/3774									skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6	c.(1042-1044)GGC>AGC			Gene3D:2hydA01,Pfam_domain:PF00664,PROSITE_profiles:PS50929,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF2,Superfamily_domains:SSF90123	ATP-binding cassette, sub-family B, member 5				ENSP00000384881		20/28									COSM3411901,COSM3411900	20/28	.		ENST00000404938	Transcript			regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	ENSG00000004846	g.chr7:20744386G>A	46			MODERATE		-1.385	neutral	getma.org/?cm=msa&ty=f&p=ABCB5_HUMAN&rb=247&re=523&var=G348S	getma.org/pdb.php?prot=ABCB5_HUMAN&from=247&to=523&var=G348S	getma.org/?cm=var&var=hg19,7,20744386,G,A&fts=all	G348S	--	--	1																																		ABCB5_uc010kuh.2_Missense_Mutation_p.G793S	1,1	1		benign(0.039)	p.G348S	NM_178559	NP_848654		deleterious(0.03)	1,1	ABCB5_HUMAN	ABCB5	HGNC	Q2M3G0	ABCB5_HUMAN					11	1588	+			UPI000173A253	348			Extracellular (Potential).|ABC transmembrane type-1.		SNV	ABCB5,missense_variant,p.Gly793Ser,ENST00000404938,NM_001163941.1;ABCB5,missense_variant,p.Gly348Ser,ENST00000258738,NM_178559.5;	uc003suw.3	c.1042G>A	3029/5811	2	2			c.1042G>A						7	SNP	c.(1042-1044)GGC>AGC	20	20			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6	Broad	ATP-binding cassette, sub-family B, member 5			20744386		0.328	ENSG00000004846	44	g.chr7:20744386G>A	regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity							72.057352	KEEP	19	12	-1	60	54	19	12	-1	80.39742	60	54	0.225	1	0	0	0	0	1	0	0	0	--	--		0	A			ABCB5_uc010kuh.2_Missense_Mutation_p.G793S	240	GBM-32-2632-TP	p.G348S	G	CAGCACAGGAGGCTTGACAAC	NM_178559	NP_848654	20744386	Q2M3G0	ABCB5_HUMAN	0			11	1588	+	A	A			Missense_Mutation	348			Extracellular (Potential).|ABC transmembrane type-1.			
ABCB5	0	broad.mit.edu	GRCh37	7	20767947	20767947	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-4719-01	TCGA-32-4719-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000404938.2:c.2736G>A	p.Ser912=	p.S912=	ENST00000404938	NM_001163941.1	912	tcG/tcA	0			1			A	S	uc003suw.3	protein_coding	YES	CCDS55090.1			2736/3774									skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6	c.(1399-1401)TCG>TCA			Gene3D:2hydA01,Pfam_domain:PF00664,PROSITE_profiles:PS50929,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF2,Superfamily_domains:SSF90123	ATP-binding cassette, sub-family B, member 5				ENSP00000384881		23/28	3.29E-05		0.000173			1.50E-05		6.07E-05	rs760878587,COSM1088332,COSM1088331	23/28	.		ENST00000404938	Transcript			regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	ENSG00000004846	g.chr7:20767947G>A	46			LOW								--	--	1																																		ABCB5_uc010kuh.2_Silent_p.S912S|ABCB5_uc003sux.1_Silent_p.S90S	0,1,1	1			p.S467S	NM_178559	NP_848654			0,1,1	ABCB5_HUMAN	ABCB5	HGNC	Q2M3G0	ABCB5_HUMAN					14	1947	+			UPI000173A253	467			Cytoplasmic (Potential).|ABC transmembrane type-1.		SNV	ABCB5,synonymous_variant,p.=,ENST00000404938,NM_001163941.1;ABCB5,synonymous_variant,p.=,ENST00000258738,NM_178559.5;ABCB5,synonymous_variant,p.=,ENST00000441315,;	uc003suw.3	c.1401G>A	3388/5811	1	1			c.1401G>A						7	SNP	c.(1399-1401)TCG>TCA	61	61			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6	Broad	ATP-binding cassette, sub-family B, member 5			20767947		0.353	ENSG00000004846	44	g.chr7:20767947G>A	regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity							363.686871	KEEP	70	80	-1	142	114	70	80	-1	368.948343	142	114	0.365559	1	0	0	0	0	0	0	1	0	--	--		0	A			ABCB5_uc010kuh.2_Silent_p.S912S|ABCB5_uc003sux.1_Silent_p.S90S	248	GBM-32-4719-TP	p.S467S	G	GAAATACCTCGAAGAAAGCAC	NM_178559	NP_848654	20767947	Q2M3G0	ABCB5_HUMAN	0			14	1947	+	A	A			Silent	467			Cytoplasmic (Potential).|ABC transmembrane type-1.			
ABCB5	0	broad.mit.edu	GRCh37	7	20782599	20782599	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-76-4935-01	TCGA-76-4935-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000404938.2:c.3124C>T	p.Arg1042Ter	p.R1042*	ENST00000404938	NM_001163941.1	1042	Cga/Tga	0	T:0		1			T	R/*	uc003suw.3	protein_coding	YES	CCDS55090.1			3124/3774									skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6	c.(1789-1791)CGA>TGA			Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_profiles:PS50893,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF2,SMART_domains:SM00382,Superfamily_domains:SSF52540	ATP-binding cassette, sub-family B, member 5			T:0.0001	ENSP00000384881		25/28	8.24E-06					1.50E-05			rs201925737,COSM3411905,COSM3411904	25/28	.		ENST00000404938	Transcript			regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	ENSG00000004846	g.chr7:20782599C>T	46			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,20782599,C,T&fts=all	R597*	--	--	1																																		ABCB5_uc010kuh.2_Nonsense_Mutation_p.R1042*	0,1,1	1			p.R597*	NM_178559	NP_848654			0,1,1	ABCB5_HUMAN	ABCB5	HGNC	Q2M3G0	ABCB5_HUMAN					16	2335	+			UPI000173A253	597			Cytoplasmic (Potential).|ABC transporter 2.		SNV	ABCB5,stop_gained,p.Arg1042Ter,ENST00000404938,NM_001163941.1;ABCB5,stop_gained,p.Arg597Ter,ENST00000258738,NM_178559.5;ABCB5,stop_gained,p.Arg209Ter,ENST00000441315,;	uc003suw.3	c.1789C>T	3776/5811	5	2			c.1789C>T						7	SNP	c.(1789-1791)CGA>TGA	20	20			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6	Broad	ATP-binding cassette, sub-family B, member 5			20782599		0.483	ENSG00000004846	44	g.chr7:20782599C>T	regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity							8.143584	KEEP	7	9	-1	65	75	7	9	-1	30.529013	65	75	0.1	1	0	0	0	0	0	1	0	0	--	--		0	T			ABCB5_uc010kuh.2_Nonsense_Mutation_p.R1042*	273	GBM-76-4935-TP	p.R597*	C	CAGTATTGAGCGAGGAAAGAC	NM_178559	NP_848654	20782599	Q2M3G0	ABCB5_HUMAN	0			16	2335	+	T	T			Nonsense_Mutation	597			Cytoplasmic (Potential).|ABC transporter 2.			
ABCB6	10058	broad.mit.edu	GRCh37	2	220080773	220080773	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01	TCGA-06-0188-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265316.3:c.1100G>A	p.Gly367Glu	p.G367E	ENST00000265316	NM_005689.2	367	gGg/gAg	0			1			T	G/E	uc002vkc.1	protein_coding	YES	CCDS2436.1			1100/2529									breast(1)|central_nervous_system(1)	2	c.(1099-1101)GGG>GAG			PROSITE_profiles:PS50929,hmmpanther:PTHR24221:SF129,hmmpanther:PTHR24221,Gene3D:2hydA01,Pfam_domain:PF00664,Superfamily_domains:SSF90123	ATP-binding cassette, sub-family B, member 6				ENSP00000265316		19-May									COSM2150571	19-May	.		ENST00000265316	Transcript	1		cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	ENSG00000115657	g.chr2:220080773C>T	47			MODERATE		4.265	high	getma.org/?cm=msa&ty=f&p=ABCB6_HUMAN&rb=265&re=544&var=G367E	NA	getma.org/?cm=var&var=hg19,2,220080773,C,T&fts=all	G367E	--	--	1																																		ABCB6_uc010fwe.1_Missense_Mutation_p.G321E|ABCB6_uc010zku.1_Intron	1	1		probably_damaging(1)	p.G367E	NM_005689	NP_005680		deleterious(0)	1	ABCB6_HUMAN	ABCB6	HGNC	Q9NP58	ABCB6_HUMAN		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	U3THN0_HUMAN,H7C1R6_HUMAN		5	1377	-		Renal(207;0.0474)	UPI000004C4BA	367			ABC transmembrane type-1.		SNV	ABCB6,missense_variant,p.Gly367Glu,ENST00000265316,NM_005689.2;ABCB6,missense_variant,p.Gly321Glu,ENST00000439002,;ABCB6,missense_variant,p.Gly215Glu,ENST00000295750,;ATG9A,downstream_gene_variant,,ENST00000409618,;ATG9A,downstream_gene_variant,,ENST00000396761,NM_024085.3;ATG9A,downstream_gene_variant,,ENST00000361242,NM_001077198.1;ATG9A,downstream_gene_variant,,ENST00000409422,;ATG9A,3_prime_UTR_variant,,ENST00000446716,;ABCB6,3_prime_UTR_variant,,ENST00000452545,;ABCB6,non_coding_transcript_exon_variant,,ENST00000492953,;ABCB6,intron_variant,,ENST00000448398,;ABCB6,intron_variant,,ENST00000417678,;ATG9A,downstream_gene_variant,,ENST00000409033,;ABCB6,upstream_gene_variant,,ENST00000497882,;ABCB6,upstream_gene_variant,,ENST00000485773,;ATG9A,downstream_gene_variant,,ENST00000475339,;ABCB6,upstream_gene_variant,,ENST00000492543,;ABCB6,upstream_gene_variant,,ENST00000496984,;ABCB6,upstream_gene_variant,,ENST00000494639,;	uc002vkc.1	c.1100G>A	1417/3016	2	2			c.1100G>A						2	SNP	c.(1099-1101)GGG>GAG	35	35			breast(1)|central_nervous_system(1)	2	Broad	ATP-binding cassette, sub-family B, member 6			220080773		0.672	ENSG00000115657	45	g.chr2:220080773C>T	cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity							32.352251	KEEP	10	5	-1	4	5	10	5	-1	32.467729	4	5	0.588235	1	0	0	0	0	1	0	0	0	--	--		0	T			ABCB6_uc010fwe.1_Missense_Mutation_p.G321E|ABCB6_uc010zku.1_Intron	41	GBM-06-0188-TP	p.G367E	C	CAGCACCTCCCCTGTGCGGCG	NM_005689	NP_005680	220080773	Q9NP58	ABCB6_HUMAN	0		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	1377	-	T	T		Renal(207;0.0474)	Missense_Mutation	367			ABC transmembrane type-1.			
ABCB9	0	broad.mit.edu	GRCh37	12	123430663	123430663	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-32-1986-01	TCGA-32-1986-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000280560.8:c.1160A>C	p.Glu387Ala	p.E387A	ENST00000280560	NM_019625.3	387	gAg/gCg	0			1			G	E/A	uc001udm.3	protein_coding		CCDS9241.1			1160/2301										0	c.(1159-1161)GAG>GCG			PROSITE_profiles:PS50929,hmmpanther:PTHR24221:SF181,hmmpanther:PTHR24221,Gene3D:2hydA01,Pfam_domain:PF00664,Superfamily_domains:SSF90123	ATP-binding cassette, sub-family B (MDR/TAP),				ENSP00000280560		12-Jun									COSM3398478	12-Jun	.		ENST00000280560	Transcript			positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	ENSG00000150967	g.chr12:123430663T>G	50			MODERATE		2.75	medium	getma.org/?cm=msa&ty=f&p=ABCB9_HUMAN&rb=188&re=456&var=E387A	getma.org/pdb.php?prot=ABCB9_HUMAN&from=188&to=456&var=E387A	getma.org/?cm=var&var=hg19,12,123430663,T,G&fts=all	E387A	--	--	1																																		ABCB9_uc010tai.1_5'Flank|ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Missense_Mutation_p.E387A|ABCB9_uc010taj.1_Missense_Mutation_p.E387A|ABCB9_uc001udp.2_Missense_Mutation_p.E387A|ABCB9_uc001udq.2_Missense_Mutation_p.E169A|ABCB9_uc001udr.2_Missense_Mutation_p.E387A	1			possibly_damaging(0.718)	p.E387A	NM_019625	NP_062571		deleterious(0.01)	1	ABCB9_HUMAN	ABCB9	HGNC	Q9NP78	ABCB9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)	Q8NCH1_HUMAN,F5H5I5_HUMAN,F5GYI2_HUMAN,F5GXZ5_HUMAN,F5GX86_HUMAN		6	1470	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		UPI00000433FE	387			Poly-Glu.|ABC transmembrane type-1.		SNV	ABCB9,missense_variant,p.Glu387Ala,ENST00000542678,;ABCB9,missense_variant,p.Glu387Ala,ENST00000442028,;ABCB9,missense_variant,p.Glu387Ala,ENST00000392439,;ABCB9,missense_variant,p.Glu387Ala,ENST00000280560,NM_019625.3;ABCB9,missense_variant,p.Glu387Ala,ENST00000346530,NM_019624.3;ABCB9,missense_variant,p.Glu387Ala,ENST00000540285,NM_001243013.1;ABCB9,missense_variant,p.Glu387Ala,ENST00000442833,NM_203444.3;ABCB9,missense_variant,p.Glu387Ala,ENST00000344275,NM_001243014.1;ABCB9,missense_variant,p.Glu44Ala,ENST00000546077,;ABCB9,missense_variant,p.Glu149Ala,ENST00000536976,;ABCB9,missense_variant,p.Glu13Ala,ENST00000542448,;ABCB9,missense_variant,p.Glu93Ala,ENST00000540971,;ABCB9,downstream_gene_variant,,ENST00000541424,;ABCB9,upstream_gene_variant,,ENST00000546289,;ABCB9,upstream_gene_variant,,ENST00000545373,;ABCB9,upstream_gene_variant,,ENST00000541983,;ABCB9,3_prime_UTR_variant,,ENST00000537276,;ABCB9,3_prime_UTR_variant,,ENST00000426173,;ABCB9,non_coding_transcript_exon_variant,,ENST00000538895,;	uc001udm.3	c.1160A>C	1457/3515	3	3			c.1160A>C						12	SNP	c.(1159-1161)GAG>GCG	5	5				0	Broad	ATP-binding cassette, sub-family B (MDR/TAP),			123430663		0.602	ENSG00000150967	48	g.chr12:123430663T>G	positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	Ovarian(49;786 1333 9175 38236)			Ovarian(49;786 1333 9175 38236)			-12.029479	KEEP	0	3	-1	42	48	0	3	-1	6.479171	42	48	0.0375	1	0	0	0	0	1	0	0	0	--	--		0	G			ABCB9_uc010tai.1_5'Flank|ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Missense_Mutation_p.E387A|ABCB9_uc010taj.1_Missense_Mutation_p.E387A|ABCB9_uc001udp.2_Missense_Mutation_p.E387A|ABCB9_uc001udq.2_Missense_Mutation_p.E169A|ABCB9_uc001udr.2_Missense_Mutation_p.E387A	233	GBM-32-1986-TP	p.E387A	T	CACCTCTGCCTCCTCCTCCTC	NM_019625	NP_062571	123430663	Q9NP78	ABCB9_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)	6	1470	-	G	G	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		Missense_Mutation	387			Poly-Glu.|ABC transmembrane type-1.			
ABCB9	0	broad.mit.edu	GRCh37	12	123434439	123434439	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2494-01	TCGA-32-2494-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000280560.8:c.743G>A	p.Gly248Asp	p.G248D	ENST00000280560	NM_019625.3	248	gGc/gAc	0			1			T	G/D	uc001udm.3	protein_coding		CCDS9241.1			743/2301										0	c.(742-744)GGC>GAC			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50929,hmmpanther:PTHR24221:SF181,hmmpanther:PTHR24221,Gene3D:2hydA01,Pfam_domain:PF00664,Superfamily_domains:SSF90123	ATP-binding cassette, sub-family B (MDR/TAP),				ENSP00000280560		12-Apr									COSM1706409	12-Apr	.		ENST00000280560	Transcript			positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	ENSG00000150967	g.chr12:123434439C>T	50			MODERATE		3.02	medium	getma.org/?cm=msa&ty=f&p=ABCB9_HUMAN&rb=188&re=456&var=G248D	getma.org/pdb.php?prot=ABCB9_HUMAN&from=188&to=456&var=G248D	getma.org/?cm=var&var=hg19,12,123434439,C,T&fts=all	G248D	--	--	1																																		ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Missense_Mutation_p.G248D|ABCB9_uc010taj.1_Missense_Mutation_p.G248D|ABCB9_uc001udp.2_Missense_Mutation_p.G248D|ABCB9_uc001udq.2_Missense_Mutation_p.G30D|ABCB9_uc001udr.2_Missense_Mutation_p.G248D	1			probably_damaging(0.998)	p.G248D	NM_019625	NP_062571		deleterious(0)	1	ABCB9_HUMAN	ABCB9	HGNC	Q9NP78	ABCB9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)	Q8NCH1_HUMAN,F5H5I5_HUMAN,F5GYI2_HUMAN,F5GXZ5_HUMAN,F5GX86_HUMAN		4	1053	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		UPI00000433FE	248			ABC transmembrane type-1.		SNV	ABCB9,missense_variant,p.Gly248Asp,ENST00000542678,;ABCB9,missense_variant,p.Gly248Asp,ENST00000442028,;ABCB9,missense_variant,p.Gly248Asp,ENST00000392439,;ABCB9,missense_variant,p.Gly248Asp,ENST00000280560,NM_019625.3;ABCB9,missense_variant,p.Gly248Asp,ENST00000346530,NM_019624.3;ABCB9,missense_variant,p.Gly248Asp,ENST00000540285,NM_001243013.1;ABCB9,missense_variant,p.Gly248Asp,ENST00000442833,NM_203444.3;ABCB9,missense_variant,p.Gly248Asp,ENST00000344275,NM_001243014.1;ABCB9,missense_variant,p.Gly27Asp,ENST00000541424,;ABCB9,intron_variant,,ENST00000536976,;ABCB9,upstream_gene_variant,,ENST00000546077,;ABCB9,upstream_gene_variant,,ENST00000542448,;ABCB9,upstream_gene_variant,,ENST00000540971,;ABCB9,missense_variant,p.Gly94Asp,ENST00000426173,;ABCB9,synonymous_variant,p.=,ENST00000537276,;ABCB9,non_coding_transcript_exon_variant,,ENST00000538895,;	uc001udm.3	c.743G>A	1040/3515	2	2			c.743G>A						12	SNP	c.(742-744)GGC>GAC	41	41				0	Broad	ATP-binding cassette, sub-family B (MDR/TAP),			123434439		0.522	ENSG00000150967	48	g.chr12:123434439C>T	positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	Ovarian(49;786 1333 9175 38236)			Ovarian(49;786 1333 9175 38236)			-49.921825	KEEP	0	6	-1	94	160	0	6	-1	6.403567	94	160	0.018519	1	0	0	0	0	1	0	0	0	--	--		0	T			ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Missense_Mutation_p.G248D|ABCB9_uc010taj.1_Missense_Mutation_p.G248D|ABCB9_uc001udp.2_Missense_Mutation_p.G248D|ABCB9_uc001udq.2_Missense_Mutation_p.G30D|ABCB9_uc001udr.2_Missense_Mutation_p.G248D	236	GBM-32-2494-TP	p.G248D	C	GGTAAAAATGCCGCCCCGAAT	NM_019625	NP_062571	123434439	Q9NP78	ABCB9_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)	4	1053	-	T	T	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		Missense_Mutation	248			ABC transmembrane type-1.			
ABCC1	4363	broad.mit.edu	GRCh37	16	16218658	16218658	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0166-01	TCGA-06-0166-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399410.3:c.3603G>A	p.Val1201=	p.V1201=	ENST00000399410	NM_004996.3	1201	gtG/gtA	0			1			A	V	uc010bvi.2	protein_coding	YES	CCDS42122.1			3603/4596									ovary(4)	4	c.(3601-3603)GTG>GTA			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50929,hmmpanther:PTHR24223:SF203,hmmpanther:PTHR24223,TIGRFAM_domain:TIGR00957,Pfam_domain:PF00664,Gene3D:2hydA01,Superfamily_domains:SSF90123	ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)			ENSP00000382342		25/31									COSM2150196,COSM3402107	25/31	.		ENST00000399410	Transcript			hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	ENSG00000103222	g.chr16:16218658G>A	51			LOW								--	--	1																																		ABCC1_uc010bvj.2_Silent_p.V1142V|ABCC1_uc010bvk.2_Silent_p.V1145V|ABCC1_uc010bvl.2_Silent_p.V1201V|ABCC1_uc010bvm.2_Silent_p.V1086V|ABCC1_uc002del.3_Silent_p.V1095V	1,1	1			p.V1201V	NM_004996	NP_004987			1,1	MRP1_HUMAN	ABCC1	HGNC	P33527	MRP1_HUMAN			Q9BV39_HUMAN		25	3778	+			UPI00001FEEFC	1201			Cytoplasmic.|ABC transmembrane type-1 2.		SNV	ABCC1,synonymous_variant,p.=,ENST00000399408,;ABCC1,synonymous_variant,p.=,ENST00000399410,NM_004996.3;ABCC1,synonymous_variant,p.=,ENST00000346370,;ABCC1,synonymous_variant,p.=,ENST00000351154,;ABCC1,synonymous_variant,p.=,ENST00000345148,;ABCC1,synonymous_variant,p.=,ENST00000349029,;ABCC1,synonymous_variant,p.=,ENST00000572882,;ABCC1,downstream_gene_variant,,ENST00000574761,;	uc010bvi.2	c.3603G>A	3778/6552	2	2			c.3603G>A						16	SNP	c.(3601-3603)GTG>GTA	48	48			ovary(4)	4	Broad	ATP-binding cassette, sub-family C, member 1		Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	16218658		0.592	ENSG00000103222	49	g.chr16:16218658G>A	hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances							76.403337	KEEP	17	19	-1	47	52	17	19	-1	80.276722	47	52	0.294118	1	0	0	0	0	0	0	1	0	--	--		0	A			ABCC1_uc010bvj.2_Silent_p.V1142V|ABCC1_uc010bvk.2_Silent_p.V1145V|ABCC1_uc010bvl.2_Silent_p.V1201V|ABCC1_uc010bvm.2_Silent_p.V1086V|ABCC1_uc002del.3_Silent_p.V1095V	31	GBM-06-0166-TP	p.V1201V	G	GGCTGGCCGTGCGGCTGGAGT	NM_004996	NP_004987	16218658	P33527	MRP1_HUMAN	0			25	3778	+	A	A			Silent	1201			Cytoplasmic.|ABC transmembrane type-1 2.			
ABCC1	4363	broad.mit.edu	GRCh37	16	16225756	16225756	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0882-01	TCGA-06-0882-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399410.3:c.3930C>T	p.Leu1310=	p.L1310=	ENST00000399410	NM_004996.3	1310	ctC/ctT	0			1			T	L	uc010bvi.2	protein_coding	YES	CCDS42122.1			3930/4596									ovary(4)	4	c.(3928-3930)CTC>CTT			PROSITE_profiles:PS50893,hmmpanther:PTHR24223:SF203,hmmpanther:PTHR24223,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00957,Pfam_domain:PF00005,Superfamily_domains:SSF52540	ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)			ENSP00000382342		27/31	8.26E-06					1.50E-05			rs767559768,COSM3402109,COSM3402108	27/31	.		ENST00000399410	Transcript			hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	ENSG00000103222	g.chr16:16225756C>T	51			LOW								--	--	1																																		ABCC1_uc010bvj.2_Silent_p.L1251L|ABCC1_uc010bvk.2_Silent_p.L1254L|ABCC1_uc010bvl.2_Silent_p.L1310L|ABCC1_uc010bvm.2_Silent_p.L1195L|ABCC1_uc002del.3_Silent_p.L1204L	0,1,1	1			p.L1310L	NM_004996	NP_004987			0,1,1	MRP1_HUMAN	ABCC1	HGNC	P33527	MRP1_HUMAN			Q9BV39_HUMAN		27	4105	+			UPI00001FEEFC	1310			ABC transporter 2.|Cytoplasmic.		SNV	ABCC1,synonymous_variant,p.=,ENST00000399408,;ABCC1,synonymous_variant,p.=,ENST00000399410,NM_004996.3;ABCC1,synonymous_variant,p.=,ENST00000346370,;ABCC1,synonymous_variant,p.=,ENST00000351154,;ABCC1,synonymous_variant,p.=,ENST00000345148,;ABCC1,synonymous_variant,p.=,ENST00000349029,;ABCC1,synonymous_variant,p.=,ENST00000572882,;	uc010bvi.2	c.3930C>T	4105/6552	2	2			c.3930C>T						16	SNP	c.(3928-3930)CTC>CTT	29	29			ovary(4)	4	Broad	ATP-binding cassette, sub-family C, member 1		Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	16225756		0.607	ENSG00000103222	49	g.chr16:16225756C>T	hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances							-10.474381	KEEP	4	2	-1	54	38	4	2	-1	7.275562	54	38	0.04878	1	0	0	0	0	0	0	1	0	--	--		0	T			ABCC1_uc010bvj.2_Silent_p.L1251L|ABCC1_uc010bvk.2_Silent_p.L1254L|ABCC1_uc010bvl.2_Silent_p.L1310L|ABCC1_uc010bvm.2_Silent_p.L1195L|ABCC1_uc002del.3_Silent_p.L1204L	77	GBM-06-0882-TP	p.L1310L	C	ACTTCGTTCTCAGGCACATCA	NM_004996	NP_004987	16225756	P33527	MRP1_HUMAN	0			27	4105	+	T	T			Silent	1310			ABC transporter 2.|Cytoplasmic.			
ABCC1	4363		GRCh37	16	16101808	16101808	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0165-01	TCGA-06-0165-01																				ENST00000399410.3:c.184C>T	p.Arg62Ter	p.R62*	ENST00000399410	NM_004996.3	62	Cga/Tga	0																																																																																																																																																																																																																																												
ABCC10	0	broad.mit.edu	GRCh37	6	43413522	43413522	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372530.4:c.3216G>A	p.Pro1072=	p.P1072=	ENST00000372530	NM_001198934.1	1072	ccG/ccA	0			1			A	P	uc003ouy.1	protein_coding	YES	CCDS56430.1			3216/4479									ovary(6)|central_nervous_system(1)	7	c.(3214-3216)CCG>CCA			Gene3D:2hydA01,Pfam_domain:PF00664,PROSITE_profiles:PS50929,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF197,Low_complexity_(Seg):seg,Superfamily_domains:SSF90123	ATP-binding cassette, sub-family C, member 10				ENSP00000361608		15/22									COSM3411126,COSM3411125	15/22	.		ENST00000372530	Transcript				integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	ENSG00000124574	g.chr6:43413522G>A	52			LOW								--	--	1																																		ABCC10_uc003ouz.1_Silent_p.P1044P|ABCC10_uc010jyo.1_Silent_p.P178P	1,1	1			p.P1072P	NM_033450	NP_258261			1,1	MRP7_HUMAN	ABCC10	HGNC	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Q9UFG1_HUMAN,Q8TBA1_HUMAN,D6R9B3_HUMAN		15	3431	+	all_lung(25;0.00536)		UPI000004A062	1072			ABC transmembrane type-1 2.		SNV	ABCC10,synonymous_variant,p.=,ENST00000244533,NM_033450.2;ABCC10,synonymous_variant,p.=,ENST00000372530,NM_001198934.1;DLK2,downstream_gene_variant,,ENST00000357338,NM_206539.1;DLK2,downstream_gene_variant,,ENST00000414245,;DLK2,downstream_gene_variant,,ENST00000372488,NM_023932.2;DLK2,downstream_gene_variant,,ENST00000372485,NM_001286656.1;DLK2,downstream_gene_variant,,ENST00000430324,NM_001286655.1;ABCC10,downstream_gene_variant,,ENST00000372515,;ABCC10,upstream_gene_variant,,ENST00000505344,;ABCC10,non_coding_transcript_exon_variant,,ENST00000463024,;ABCC10,intron_variant,,ENST00000372512,;ABCC10,upstream_gene_variant,,ENST00000437104,;ABCC10,downstream_gene_variant,,ENST00000469856,;	uc003ouy.1	c.3216G>A	3431/5033	1	1			c.3216G>A						6	SNP	c.(3214-3216)CCG>CCA	63	63			ovary(6)|central_nervous_system(1)	7	Broad	ATP-binding cassette, sub-family C, member 10			43413522		0.662	ENSG00000124574	50	g.chr6:43413522G>A		integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances							99.864403	KEEP	24	15	-1	31	23	24	15	-1	99.994732	31	23	0.454545	1	0	0	0	0	0	0	1	0	--	--		0	A			ABCC10_uc003ouz.1_Silent_p.P1044P|ABCC10_uc010jyo.1_Silent_p.P178P	197	GBM-27-1838-TP	p.P1072P	G	TCCTGCTGCCGCCTTTGAGCA	NM_033450	NP_258261	43413522	Q5T3U5	MRP7_HUMAN	0	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		15	3431	+	A	A	all_lung(25;0.00536)		Silent	1072			ABC transmembrane type-1 2.			
ABCC10	0	broad.mit.edu	GRCh37	6	43415637	43415637	+	synonymous_variant	Silent	SNP	C	C	T	rs144509707		TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372530.4:c.3921C>T	p.Asp1307=	p.D1307=	ENST00000372530	NM_001198934.1	1307	gaC/gaT	0	T:0.0005		1			T	D	uc003ouy.1	protein_coding	YES	CCDS56430.1			3921/4479									ovary(6)|central_nervous_system(1)	7	c.(3919-3921)GAC>GAT			Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_profiles:PS50893,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF197,SMART_domains:SM00382,Superfamily_domains:SSF52540	ATP-binding cassette, sub-family C, member 10			T:0.0003	ENSP00000361608		18/22	4.94E-05	0.000198	8.76E-05			4.57E-05			rs144509707,COSM2157357,COSM3411127	18/22	.		ENST00000372530	Transcript				integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	ENSG00000124574	g.chr6:43415637C>T	52			LOW								--	--	1																																		ABCC10_uc003ouz.1_Silent_p.D1279D|ABCC10_uc010jyo.1_Silent_p.D413D	0,1,1	1			p.D1307D	NM_033450	NP_258261			0,1,1	MRP7_HUMAN	ABCC10	HGNC	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Q9UFG1_HUMAN,Q8TBA1_HUMAN,D6R9B3_HUMAN		18	4136	+	all_lung(25;0.00536)		UPI000004A062	1307			ABC transporter 2.		SNV	ABCC10,synonymous_variant,p.=,ENST00000244533,NM_033450.2;ABCC10,synonymous_variant,p.=,ENST00000372530,NM_001198934.1;DLK2,downstream_gene_variant,,ENST00000357338,NM_206539.1;DLK2,downstream_gene_variant,,ENST00000414245,;DLK2,downstream_gene_variant,,ENST00000372488,NM_023932.2;DLK2,downstream_gene_variant,,ENST00000372485,NM_001286656.1;DLK2,downstream_gene_variant,,ENST00000430324,NM_001286655.1;ABCC10,upstream_gene_variant,,ENST00000505344,;ABCC10,non_coding_transcript_exon_variant,,ENST00000463024,;ABCC10,downstream_gene_variant,,ENST00000437104,;ABCC10,downstream_gene_variant,,ENST00000372512,;	uc003ouy.1	c.3921C>T	4136/5033	2	2			c.3921C>T						6	SNP	c.(3919-3921)GAC>GAT	41	41			ovary(6)|central_nervous_system(1)	7	Broad	ATP-binding cassette, sub-family C, member 10			43415637		0.632	ENSG00000124574	50	g.chr6:43415637C>T		integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances							63.154626	KEEP	13	16	-1	25	30	13	16	-1	65.12381	25	30	0.328947	1	0	0	0	0	0	0	1	0	--	--		0	T			ABCC10_uc003ouz.1_Silent_p.D1279D|ABCC10_uc010jyo.1_Silent_p.D413D	246	GBM-32-4211-TP	p.D1307D	C	TGCTGCTGGACGGCGTGGACA	NM_033450	NP_258261	43415637	Q5T3U5	MRP7_HUMAN	0	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		18	4136	+	T	T	all_lung(25;0.00536)		Silent	1307			ABC transporter 2.			
ABCC10	89845		GRCh37	6	43403588	43403588	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000372530.4:c.1708C>T	p.Arg570Trp	p.R570W	ENST00000372530	NM_001198934.1	570	Cgg/Tgg	0																																																																																																																																																																																																																																												
ABCC10	89845		GRCh37	6	43417751	43417751	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000372530.4:c.4401C>T	p.Arg1467=	p.R1467=	ENST00000372530	NM_001198934.1	1467	cgC/cgT	0																																																																																																																																																																																																																																												
ABCC11	85320	broad.mit.edu	GRCh37	16	48247385	48247385	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs148839428		TCGA-06-0216-01	TCGA-06-0216-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394747.1:c.1325C>T	p.Thr442Met	p.T442M	ENST00000394747	NM_033151.3	442	aCg/aTg	0	C:0	C:0.0008	1	C:0		A	T/M	uc002eff.1	protein_coding		CCDS10732.1			1325/4149									ovary(3)|skin(2)|central_nervous_system(1)	6	c.(1324-1326)ACG>ATG			Gene3D:2hydA01,PROSITE_profiles:PS50929,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF168	ATP-binding cassette, sub-family C, member 11		C:0	C:0.0001	ENSP00000349017	C:0	30-Oct	3.29E-05			0.000231		1.50E-05		6.08E-05	rs148839428,COSM2150935	30-Oct	.	Cerumen_Type	ENST00000356608	Transcript	1	C:0.0002		integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	ENSG00000121270	g.chr16:48247385G>A	14639			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=ABCCB_HUMAN&rb=163&re=443&var=T442M	NA	getma.org/?cm=var&var=hg19,16,48247385,G,A&fts=all	T442M	--	--	1																																		ABCC11_uc002efg.1_Missense_Mutation_p.T442M|ABCC11_uc002efh.1_Missense_Mutation_p.T442M|ABCC11_uc010vgk.1_RNA	0,1			benign(0.1)	p.T442M	NM_033151	NP_149163	C:0	deleterious(0)	0,1	ABCCB_HUMAN	ABCC11	HGNC	Q96J66	ABCCB_HUMAN			H3BRJ2_HUMAN		9	1675	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	UPI0000052711	442			Cytoplasmic (Potential).|ABC transmembrane type-1 1.		SNV	ABCC11,missense_variant,p.Thr442Met,ENST00000394747,NM_033151.3;ABCC11,missense_variant,p.Thr442Met,ENST00000356608,;ABCC11,missense_variant,p.Thr442Met,ENST00000394748,NM_032583.3;ABCC11,missense_variant,p.Thr442Met,ENST00000353782,NM_145186.2;ABCC11,missense_variant,p.Thr442Met,ENST00000537808,;ABCC11,downstream_gene_variant,,ENST00000565487,;ABCC11,non_coding_transcript_exon_variant,,ENST00000567385,;	uc002eff.1	c.1325C>T	1424/4612	1	1			c.1325C>T						16	SNP	c.(1324-1326)ACG>ATG	54	54			ovary(3)|skin(2)|central_nervous_system(1)	6	Broad	ATP-binding cassette, sub-family C, member 11			48247385	Cerumen_Type	0.552	ENSG00000121270	51	g.chr16:48247385G>A		integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances							100.414752	KEEP	18	16	-1	15	15	18	16	-1	100.448116	15	15	0.52459	1	0	0	0	0	1	0	0	0	--	--		0	A			ABCC11_uc002efg.1_Missense_Mutation_p.T442M|ABCC11_uc002efh.1_Missense_Mutation_p.T442M|ABCC11_uc010vgk.1_RNA	51	GBM-06-0216-TP	p.T442M	G	CTTGGAATTCGTGAGACCTTT	NM_033151	NP_149163	48247385	Q96J66	ABCCB_HUMAN	0			9	1675	-	A	A		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	Missense_Mutation	442			Cytoplasmic (Potential).|ABC transmembrane type-1 1.			
ABCC11	0	broad.mit.edu	GRCh37	16	48210869	48210869	+	synonymous_variant	Silent	SNP	G	G	A	rs143002804		TCGA-12-3650-01	TCGA-12-3650-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356608.2:c.3504C>T	p.His1168=	p.H1168=	ENST00000356608		1168	caC/caT	0	A:0.0002		1			A	H	uc002eff.1	protein_coding		CCDS10732.1			3504/4149									ovary(3)|skin(2)|central_nervous_system(1)	6	c.(3502-3504)CAC>CAT			Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_profiles:PS50893,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF168,SMART_domains:SM00382,Superfamily_domains:SSF52540	ATP-binding cassette, sub-family C, member 11			A:0	ENSP00000349017		25/30	3.29E-05	0.000196				1.52E-05		6.22E-05	rs143002804,COSM970968	25/30	.	Cerumen_Type	ENST00000356608	Transcript	1			integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	ENSG00000121270	g.chr16:48210869G>A	14639			LOW								--	--	1																																		ABCC11_uc002efg.1_Silent_p.H1168H|ABCC11_uc002efh.1_Silent_p.H1168H|ABCC11_uc010cbg.1_RNA	0,1				p.H1168H	NM_033151	NP_149163			0,1	ABCCB_HUMAN	ABCC11	HGNC	Q96J66	ABCCB_HUMAN			H3BRJ2_HUMAN		24	3854	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	UPI0000052711	1168			ABC transporter 2.|Cytoplasmic (Potential).		SNV	ABCC11,synonymous_variant,p.=,ENST00000394747,NM_033151.3;ABCC11,synonymous_variant,p.=,ENST00000356608,;ABCC11,synonymous_variant,p.=,ENST00000394748,NM_032583.3;ABCC11,synonymous_variant,p.=,ENST00000353782,NM_145186.2;ABCC11,non_coding_transcript_exon_variant,,ENST00000565329,;	uc002eff.1	c.3504C>T	3603/4612	1	1			c.3504C>T						16	SNP	c.(3502-3504)CAC>CAT	53	53			ovary(3)|skin(2)|central_nervous_system(1)	6	Broad	ATP-binding cassette, sub-family C, member 11			48210869	Cerumen_Type	0.562	ENSG00000121270	51	g.chr16:48210869G>A		integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances							18.945819	KEEP	5	6	-1	24	21	5	6	-1	24.410125	24	21	0.169811	1	0	0	0	0	0	0	1	0	--	--		0	A			ABCC11_uc002efg.1_Silent_p.H1168H|ABCC11_uc002efh.1_Silent_p.H1168H|ABCC11_uc010cbg.1_RNA	126	GBM-12-3650-TP	p.H1168H	G	CCACCACTTCGTGGCCGCGGA	NM_033151	NP_149163	48210869	Q96J66	ABCCB_HUMAN	0			24	3854	-	A	A		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	Silent	1168			ABC transporter 2.|Cytoplasmic (Potential).			
ABCC3	0	broad.mit.edu	GRCh37	17	48757178	48757178	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5955-01	TCGA-19-5955-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285238.8:c.3725G>A	p.Trp1242Ter	p.W1242*	ENST00000285238	NM_003786.3	1242	tGg/tAg	0			1			A	W/*	uc002isl.2	protein_coding	YES	CCDS32681.1			3725/4584									skin(3)|central_nervous_system(1)	4	c.(3724-3726)TGG>TAG			PROSITE_profiles:PS50929,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF199,TIGRFAM_domain:TIGR00957,Gene3D:2hydA01,Superfamily_domains:SSF90123	ATP-binding cassette, sub-family C, member 3	Glibenclamide(DB01016)			ENSP00000285238		26/31									COSM3402998	26/31	.		ENST00000285238	Transcript			bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	ENSG00000108846	g.chr17:48757178G>A	54			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,17,48757178,G,A&fts=all	W1242*	--	--	1																																		ABCC3_uc002isn.2_5'UTR	1	1			p.W1242*	NM_003786	NP_003777			1	MRP3_HUMAN	ABCC3	HGNC	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Q96QA9_HUMAN,Q2M3C9_HUMAN		26	3805	+			UPI000004B145	1242			ABC transmembrane type-1 2.|Helical; Name=17; (By similarity).		SNV	ABCC3,stop_gained,p.Trp1242Ter,ENST00000285238,NM_003786.3;ABCC3,downstream_gene_variant,,ENST00000513745,;ABCC3,downstream_gene_variant,,ENST00000510891,;ABCC3,downstream_gene_variant,,ENST00000506464,;ABCC3,3_prime_UTR_variant,,ENST00000502426,;ABCC3,3_prime_UTR_variant,,ENST00000505699,;ABCC3,non_coding_transcript_exon_variant,,ENST00000503337,;ABCC3,downstream_gene_variant,,ENST00000510633,;	uc002isl.2	c.3725G>A	3805/5716	5	2			c.3725G>A						17	SNP	c.(3724-3726)TGG>TAG	29	29			skin(3)|central_nervous_system(1)	4	Broad	ATP-binding cassette, sub-family C, member 3		Glibenclamide(DB01016)	48757178		0.517	ENSG00000108846	54	g.chr17:48757178G>A	bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			438			438	28.795302	KEEP	10	7	-1	33	44	10	7	-1	37.205972	33	44	0.170732	1	0	0	0	0	0	1	0	0	--	--		0	A			ABCC3_uc002isn.2_5'UTR	175	GBM-19-5955-TP	p.W1242*	G	GCTCTGAACTGGATGATACGA	NM_003786	NP_003777	48757178	O15438	MRP3_HUMAN	0	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		26	3805	+	A	A			Nonsense_Mutation	1242			ABC transmembrane type-1 2.|Helical; Name=17; (By similarity).			
ABCC4	10257	broad.mit.edu	GRCh37	13	95715015	95715015	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-5408-01	TCGA-06-5408-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376887.4:c.3309C>G	p.Ile1103Met	p.I1103M	ENST00000376887	NM_005845.3	1103	atC/atG	0			1			C	I/M	uc001vmd.3	protein_coding	YES	CCDS9474.1			3309/3978									central_nervous_system(3)|skin(1)	4	c.(3307-3309)ATC>ATG			Superfamily_domains:SSF52540,SMART_domains:SM00382,Pfam_domain:PF00005,Gene3D:3.40.50.300,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF205,PROSITE_profiles:PS50893	ATP-binding cassette, sub-family C, member 4	Cefazolin(DB01327)			ENSP00000366084		26/31									COSM3399465,COSM3399466	26/31	.		ENST00000376887	Transcript			platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	ENSG00000125257	g.chr13:95715015G>C	55			MODERATE		1.46	low	getma.org/?cm=msa&ty=f&p=MRP4_HUMAN&rb=1082&re=1205&var=I1103M	getma.org/pdb.php?prot=MRP4_HUMAN&from=1082&to=1205&var=I1103M	getma.org/?cm=var&var=hg19,13,95715015,G,C&fts=all	I1103M	--	--	1																																		ABCC4_uc010afj.2_Translation_Start_Site|ABCC4_uc010afk.2_Missense_Mutation_p.I1056M	1,1	1		benign(0.314)	p.I1103M	NM_005845	NP_005836		deleterious(0.01)	1,1	MRP4_HUMAN	ABCC4	HGNC	O15439	MRP4_HUMAN			Q8IUA3_HUMAN		26	3428	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		UPI00001A36E6	1103			ABC transporter 2.		SNV	ABCC4,missense_variant,p.Ile1103Met,ENST00000376887,NM_005845.3;ABCC4,missense_variant,p.Ile1056Met,ENST00000412704,;	uc001vmd.3	c.3309C>G	3424/5837	4	4			c.3309C>G						13	SNP	c.(3307-3309)ATC>ATG	47	47			central_nervous_system(3)|skin(1)	4	Broad	ATP-binding cassette, sub-family C, member 4		Cefazolin(DB01327)	95715015		0.423	ENSG00000125257	55	g.chr13:95715015G>C	platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			1222			1222	-20.147201	KEEP	2	3	-1	71	66	2	3	-1	12.053331	71	66	0.036232	1	0	0	0	0	1	0	0	0	--	--		0	C			ABCC4_uc010afj.2_Translation_Start_Site|ABCC4_uc010afk.2_Missense_Mutation_p.I1056M	92	GBM-06-5408-TP	p.I1103M	G	CAGTTGTCAAGATCTTATCAA	NM_005845	NP_005836	95715015	O15439	MRP4_HUMAN	0			26	3428	-	C	C	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		Missense_Mutation	1103			ABC transporter 2.			
ABCC4	10257	broad.mit.edu	GRCh37	13	95673860	95673860	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376887.4:c.3947C>T	p.Ser1316Leu	p.S1316L	ENST00000376887	NM_005845.3	1316	tCg/tTg	0			1			A	S/L	uc001vmd.3	protein_coding	YES	CCDS9474.1			3947/3978									central_nervous_system(3)|skin(1)	4	c.(3946-3948)TCG>TTG				ATP-binding cassette, sub-family C, member 4	Cefazolin(DB01327)			ENSP00000366084		31/31									COSM3399461,COSM3399462	31/31	.		ENST00000376887	Transcript			platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	ENSG00000125257	g.chr13:95673860G>A	55			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=MRP4_HUMAN&rb=1206&re=1325&var=S1316L	NA	getma.org/?cm=var&var=hg19,13,95673860,G,A&fts=all	S1316L	--	--	1																																		ABCC4_uc010afj.2_Missense_Mutation_p.S107L|ABCC4_uc010afk.2_Missense_Mutation_p.S1269L	1,1	1		benign(0.047)	p.S1316L	NM_005845	NP_005836		deleterious_low_confidence(0.01)	1,1	MRP4_HUMAN	ABCC4	HGNC	O15439	MRP4_HUMAN			Q8IUA3_HUMAN		31	4066	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		UPI00001A36E6	1316					SNV	ABCC4,missense_variant,p.Ser1316Leu,ENST00000376887,NM_005845.3;ABCC4,missense_variant,p.Ser1269Leu,ENST00000412704,;RNU6-62P,downstream_gene_variant,,ENST00000516526,;	uc001vmd.3	c.3947C>T	4062/5837	1	1			c.3947C>T						13	SNP	c.(3946-3948)TCG>TTG	64	64			central_nervous_system(3)|skin(1)	4	Broad	ATP-binding cassette, sub-family C, member 4		Cefazolin(DB01327)	95673860		0.383	ENSG00000125257	55	g.chr13:95673860G>A	platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			1222			1222	211.716164	KEEP	28	47	-1	10	12	28	47	-1	216.442634	10	12	0.753086	1	0	0	0	0	1	0	0	0	--	--		0	A			ABCC4_uc010afj.2_Missense_Mutation_p.S107L|ABCC4_uc010afk.2_Missense_Mutation_p.S1269L	102	GBM-06-5858-TP	p.S1316L	G	AGTTAAGGTCGAGGGCTGTCC	NM_005845	NP_005836	95673860	O15439	MRP4_HUMAN	0			31	4066	-	A	A	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		Missense_Mutation	1316						
ABCC4	10257	broad.mit.edu	GRCh37	13	95715080	95715080	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-6388-01	TCGA-06-6388-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376887.4:c.3244A>G	p.Ser1082Gly	p.S1082G	ENST00000376887	NM_005845.3	1082	Agt/Ggt	0			1			C	S/G	uc001vmd.3	protein_coding	YES	CCDS9474.1			3244/3978									central_nervous_system(3)|skin(1)	4	c.(3244-3246)AGT>GGT			Superfamily_domains:SSF52540,SMART_domains:SM00382,Pfam_domain:PF00005,Gene3D:3.40.50.300,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF205,PROSITE_profiles:PS50893	ATP-binding cassette, sub-family C, member 4	Cefazolin(DB01327)			ENSP00000366084		26/31									COSM3399467,COSM3399468	26/31	.		ENST00000376887	Transcript			platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	ENSG00000125257	g.chr13:95715080T>C	55			MODERATE		4.42	high	getma.org/?cm=msa&ty=f&p=MRP4_HUMAN&rb=1082&re=1205&var=S1082G	getma.org/pdb.php?prot=MRP4_HUMAN&from=1082&to=1205&var=S1082G	getma.org/?cm=var&var=hg19,13,95715080,T,C&fts=all	S1082G	--	--	1																																		ABCC4_uc010afj.2_5'UTR|ABCC4_uc010afk.2_Missense_Mutation_p.S1035G	1,1	1		benign(0.153)	p.S1082G	NM_005845	NP_005836		deleterious(0)	1,1	MRP4_HUMAN	ABCC4	HGNC	O15439	MRP4_HUMAN			Q8IUA3_HUMAN		26	3363	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		UPI00001A36E6	1082			ABC transporter 2.|ATP 2 (Potential).		SNV	ABCC4,missense_variant,p.Ser1082Gly,ENST00000376887,NM_005845.3;ABCC4,missense_variant,p.Ser1035Gly,ENST00000412704,;	uc001vmd.3	c.3244A>G	3359/5837	3	3			c.3244A>G						13	SNP	c.(3244-3246)AGT>GGT	7	7			central_nervous_system(3)|skin(1)	4	Broad	ATP-binding cassette, sub-family C, member 4		Cefazolin(DB01327)	95715080		0.398	ENSG00000125257	55	g.chr13:95715080T>C	platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			1222			1222	85.070055	KEEP	15	11	-1	26	24	15	11	-1	86.322051	26	24	0.357143	1	0	0	0	0	1	0	0	0	--	--		0	C			ABCC4_uc010afj.2_5'UTR|ABCC4_uc010afk.2_Missense_Mutation_p.S1035G	104	GBM-06-6388-TP	p.S1082G	T	ATGAGGGAACTTTTTCCAGCT	NM_005845	NP_005836	95715080	O15439	MRP4_HUMAN	0			26	3363	-	C	C	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		Missense_Mutation	1082			ABC transporter 2.|ATP 2 (Potential).			
ABCC4	0	broad.mit.edu	GRCh37	13	95705392	95705392	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-87-5896-01	TCGA-87-5896-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376887.4:c.3413T>G	p.Phe1138Cys	p.F1138C	ENST00000376887	NM_005845.3	1138	tTt/tGt	0			1			C	F/C	uc001vmd.3	protein_coding	YES	CCDS9474.1			3413/3978									central_nervous_system(3)|skin(1)	4	c.(3412-3414)TTT>TGT			Superfamily_domains:SSF52540,SMART_domains:SM00382,Pfam_domain:PF00005,Gene3D:3.40.50.300,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF205,PROSITE_profiles:PS50893	ATP-binding cassette, sub-family C, member 4	Cefazolin(DB01327)			ENSP00000366084		27/31									COSM3399463,COSM3399464	27/31	.		ENST00000376887	Transcript			platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	ENSG00000125257	g.chr13:95705392A>C	55			MODERATE		2.065	medium	getma.org/?cm=msa&ty=f&p=MRP4_HUMAN&rb=1082&re=1205&var=F1138C	getma.org/pdb.php?prot=MRP4_HUMAN&from=1082&to=1205&var=F1138C	getma.org/?cm=var&var=hg19,13,95705392,A,C&fts=all	F1138C	--	--	1																																		ABCC4_uc010afj.2_Missense_Mutation_p.F22C|ABCC4_uc010afk.2_Missense_Mutation_p.F1091C	1,1	1		probably_damaging(1)	p.F1138C	NM_005845	NP_005836		deleterious(0)	1,1	MRP4_HUMAN	ABCC4	HGNC	O15439	MRP4_HUMAN			Q8IUA3_HUMAN		27	3532	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		UPI00001A36E6	1138			ABC transporter 2.		SNV	ABCC4,missense_variant,p.Phe1138Cys,ENST00000376887,NM_005845.3;ABCC4,missense_variant,p.Phe1091Cys,ENST00000412704,;ABCC4,non_coding_transcript_exon_variant,,ENST00000471041,;	uc001vmd.3	c.3413T>G	3528/5837	3	3			c.3413T>G						13	SNP	c.(3412-3414)TTT>TGT	3	3			central_nervous_system(3)|skin(1)	4	Broad	ATP-binding cassette, sub-family C, member 4		Cefazolin(DB01327)	95705392		0.373	ENSG00000125257	55	g.chr13:95705392A>C	platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			1222			1222	79.767581	KEEP	12	16	-1	34	36	12	16	-1	83.227021	34	36	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	C			ABCC4_uc010afj.2_Missense_Mutation_p.F22C|ABCC4_uc010afk.2_Missense_Mutation_p.F1091C	291	GBM-87-5896-TP	p.F1138C	A	GTGCTCATTAAAGGGATCCAG	NM_005845	NP_005836	95705392	O15439	MRP4_HUMAN	0			27	3532	-	C	C	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		Missense_Mutation	1138			ABC transporter 2.			
ABCC5	10057	broad.mit.edu	GRCh37	3	183665250	183665250	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0126-01	TCGA-06-0126-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334444.6:c.3276G>A	p.Thr1092=	p.T1092=	ENST00000334444	NM_005688.2	1092	acG/acA	0			1			T	T	uc003fmg.2	protein_coding	YES	CCDS43176.1			3276/4314									ovary(2)|large_intestine(1)|central_nervous_system(1)	4	c.(3274-3276)ACG>ACA			PROSITE_profiles:PS50929,hmmpanther:PTHR24223:SF196,hmmpanther:PTHR24223,Gene3D:2hydA01,Pfam_domain:PF00664,Superfamily_domains:SSF90123	ATP-binding cassette, sub-family C, member 5				ENSP00000333926		23/30	8.27E-06							6.30E-05	rs745426596,COSM2149444	23/30	.		ENST00000334444	Transcript				integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	ENSG00000114770	g.chr3:183665250C>T	56			LOW								--	--	1																																		ABCC5_uc011bqt.1_Silent_p.T620T|ABCC5_uc010hxl.2_Silent_p.T1049T	0,1	1			p.T1092T	NM_005688	NP_005679			0,1	MRP5_HUMAN	ABCC5	HGNC	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		C9JZL5_HUMAN		23	3441	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		UPI000004A33C	1092			ABC transmembrane type-1 2.		SNV	ABCC5,synonymous_variant,p.=,ENST00000334444,NM_005688.2;ABCC5,synonymous_variant,p.=,ENST00000265586,;ABCC5,3_prime_UTR_variant,,ENST00000437205,;ABCC5,upstream_gene_variant,,ENST00000443497,;	uc003fmg.2	c.3276G>A	3517/5921	2	2			c.3276G>A						3	SNP	c.(3274-3276)ACG>ACA	30	30			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Broad	ATP-binding cassette, sub-family C, member 5			183665250		0.532	ENSG00000114770	56	g.chr3:183665250C>T		integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity							28.539068	KEEP	10	7	-1	17	17	10	7	-1	29.680907	17	17	0.30303	1	0	0	0	0	0	0	1	0	--	--		0	T			ABCC5_uc011bqt.1_Silent_p.T620T|ABCC5_uc010hxl.2_Silent_p.T1049T	13	GBM-06-0126-TP	p.T1092T	C	GCATCGCACACGTAAACAAAA	NM_005688	NP_005679	183665250	O15440	MRP5_HUMAN	0	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		23	3441	-	T	T	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Silent	1092			ABC transmembrane type-1 2.			
ABCC5	10057	broad.mit.edu	GRCh37	3	183700632	183700632	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0128-01	TCGA-06-0128-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334444.6:c.755G>C	p.Gly252Ala	p.G252A	ENST00000334444	NM_005688.2	252	gGg/gCg	0		G:0.0008	1	G:0		G	G/A	uc003fmg.2	protein_coding	YES	CCDS43176.1			755/4314									ovary(2)|large_intestine(1)|central_nervous_system(1)	4	c.(754-756)GGG>GCG			PROSITE_profiles:PS50929,hmmpanther:PTHR24223:SF196,hmmpanther:PTHR24223,Gene3D:2hydA01,Pfam_domain:PF00664,Superfamily_domains:SSF90123	ATP-binding cassette, sub-family C, member 5		G:0		ENSP00000333926	G:0	30-Jun	8.27E-06	0.000102							rs201560541,COSM2149469	30-Jun	.		ENST00000334444	Transcript		G:0.0002		integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	ENSG00000114770	g.chr3:183700632C>G	56			MODERATE		1.07	low	getma.org/?cm=msa&ty=f&p=MRP5_HUMAN&rb=179&re=447&var=G252A	NA	getma.org/?cm=var&var=hg19,3,183700632,C,G&fts=all	G252A	--	--	1																																		ABCC5_uc011bqt.1_5'UTR|ABCC5_uc010hxl.2_Missense_Mutation_p.G252A	0,1	1		possibly_damaging(0.627)	p.G252A	NM_005688	NP_005679	G:0	tolerated(0.53)	0,1	MRP5_HUMAN	ABCC5	HGNC	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		C9JZL5_HUMAN		6	920	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		UPI000004A33C	252			ABC transmembrane type-1 1.		SNV	ABCC5,missense_variant,p.Gly252Ala,ENST00000334444,NM_005688.2;ABCC5,missense_variant,p.Gly252Ala,ENST00000265586,;ABCC5,downstream_gene_variant,,ENST00000427120,;ABCC5,downstream_gene_variant,,ENST00000382494,NM_001023587.1;ABCC5,downstream_gene_variant,,ENST00000392579,;ABCC5,non_coding_transcript_exon_variant,,ENST00000492216,;ABCC5,missense_variant,p.Gly252Ala,ENST00000437205,;ABCC5,downstream_gene_variant,,ENST00000443376,;ABCC5,downstream_gene_variant,,ENST00000438979,;	uc003fmg.2	c.755G>C	996/5921	3	3			c.755G>C						3	SNP	c.(754-756)GGG>GCG	1	1			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Broad	ATP-binding cassette, sub-family C, member 5			183700632		0.507	ENSG00000114770	56	g.chr3:183700632C>G		integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity							116.670906	KEEP	20	26	-1	41	42	20	26	-1	118.792971	41	42	0.353982	1	0	0	0	0	1	0	0	0	--	--		0	G			ABCC5_uc011bqt.1_5'UTR|ABCC5_uc010hxl.2_Missense_Mutation_p.G252A	14	GBM-06-0128-TP	p.G252A	C	TAGGATGGCCCCCCGCAAGCG	NM_005688	NP_005679	183700632	O15440	MRP5_HUMAN	0	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		6	920	-	G	G	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Missense_Mutation	252			ABC transmembrane type-1 1.			
ABCC5	10057	broad.mit.edu	GRCh37	3	183677612	183677612	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-6390-01	TCGA-06-6390-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334444.6:c.2391A>G	p.Lys797=	p.K797=	ENST00000334444	NM_005688.2	797	aaA/aaG	0			1			C	K	uc003fmg.2	protein_coding	YES	CCDS43176.1			2391/4314									ovary(2)|large_intestine(1)|central_nervous_system(1)	4	c.(2389-2391)AAA>AAG			hmmpanther:PTHR24223:SF196,hmmpanther:PTHR24223	ATP-binding cassette, sub-family C, member 5				ENSP00000333926		17/30									COSM2153444	17/30	.		ENST00000334444	Transcript				integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	ENSG00000114770	g.chr3:183677612T>C	56			LOW								--	--	1																																		ABCC5_uc011bqt.1_Silent_p.K325K|ABCC5_uc010hxl.2_Silent_p.K797K	1	1			p.K797K	NM_005688	NP_005679			1	MRP5_HUMAN	ABCC5	HGNC	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		C9JZL5_HUMAN		17	2556	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		UPI000004A33C	797					SNV	ABCC5,synonymous_variant,p.=,ENST00000334444,NM_005688.2;ABCC5,synonymous_variant,p.=,ENST00000265586,;ABCC5,3_prime_UTR_variant,,ENST00000437205,;	uc003fmg.2	c.2391A>G	2632/5921	3	3			c.2391A>G						3	SNP	c.(2389-2391)AAA>AAG	52	52			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Broad	ATP-binding cassette, sub-family C, member 5			183677612		0.363	ENSG00000114770	56	g.chr3:183677612T>C		integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity							89.531265	KEEP	9	20	-1	22	31	9	20	-1	91.086221	22	31	0.346667	1	0	0	0	0	0	0	1	0	--	--		0	C			ABCC5_uc011bqt.1_Silent_p.K325K|ABCC5_uc010hxl.2_Silent_p.K797K	106	GBM-06-6390-TP	p.K797K	T	TGGTTTCCTTTTTTGAATTGA	NM_005688	NP_005679	183677612	O15440	MRP5_HUMAN	0	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		17	2556	-	C	C	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Silent	797						
ABCC5	0	broad.mit.edu	GRCh37	3	183665139	183665139	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-28-2513-01	TCGA-28-2513-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334444.6:c.3387G>T	p.Ala1129=	p.A1129=	ENST00000334444	NM_005688.2	1129	gcG/gcT	0			1			A	A	uc003fmg.2	protein_coding	YES	CCDS43176.1			3387/4314									ovary(2)|large_intestine(1)|central_nervous_system(1)	4	c.(3385-3387)GCG>GCT			PROSITE_profiles:PS50929,hmmpanther:PTHR24223:SF196,hmmpanther:PTHR24223,Gene3D:2hydA01,Pfam_domain:PF00664,Superfamily_domains:SSF90123	ATP-binding cassette, sub-family C, member 5				ENSP00000333926		23/30									COSM3408465	23/30	.		ENST00000334444	Transcript				integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	ENSG00000114770	g.chr3:183665139C>A	56			LOW								--	--	1																																		ABCC5_uc011bqt.1_Silent_p.A657A|ABCC5_uc010hxl.2_Silent_p.A1086A	1	1			p.A1129A	NM_005688	NP_005679			1	MRP5_HUMAN	ABCC5	HGNC	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		C9JZL5_HUMAN		23	3552	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		UPI000004A33C	1129			ABC transmembrane type-1 2.|Helical; (Potential).		SNV	ABCC5,synonymous_variant,p.=,ENST00000334444,NM_005688.2;ABCC5,synonymous_variant,p.=,ENST00000265586,;ABCC5,3_prime_UTR_variant,,ENST00000437205,;ABCC5,upstream_gene_variant,,ENST00000443497,;	uc003fmg.2	c.3387G>T	3628/5921	1	1			c.3387G>T						3	SNP	c.(3385-3387)GCG>GCT	63	63			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Broad	ATP-binding cassette, sub-family C, member 5			183665139		0.567	ENSG00000114770	56	g.chr3:183665139C>A		integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity							17.104093	KEEP	3	6	0.666666667	15	26	3	6	0.666666667	20.239023	15	26	0.194444	1	0	0	0	0	0	0	1	0	--	--		0	A			ABCC5_uc011bqt.1_Silent_p.A657A|ABCC5_uc010hxl.2_Silent_p.A1086A	213	GBM-28-2513-TP	p.A1129A	C	TGGCGAGACCCGCATAGGCTG	NM_005688	NP_005679	183665139	O15440	MRP5_HUMAN	0	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		23	3552	-	A	A	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Silent	1129			ABC transmembrane type-1 2.|Helical; (Potential).			
ABCC5	0	broad.mit.edu	GRCh37	3	183679309	183679309	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01	TCGA-41-5651-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334444.6:c.2369C>T	p.Pro790Leu	p.P790L	ENST00000334444	NM_005688.2	790	cCg/cTg	0			1			A	P/L	uc003fmg.2	protein_coding	YES	CCDS43176.1			2369/4314									ovary(2)|large_intestine(1)|central_nervous_system(1)	4	c.(2368-2370)CCG>CTG			hmmpanther:PTHR24223:SF196,hmmpanther:PTHR24223	ATP-binding cassette, sub-family C, member 5				ENSP00000333926		16/30	8.26E-06			0.000117					rs760462740,COSM3408466	16/30	.		ENST00000334444	Transcript				integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	ENSG00000114770	g.chr3:183679309G>A	56			MODERATE		2.03	medium	getma.org/?cm=msa&ty=f&p=MRP5_HUMAN&rb=714&re=858&var=P790L	getma.org/pdb.php?prot=MRP5_HUMAN&from=714&to=858&var=P790L	getma.org/?cm=var&var=hg19,3,183679309,G,A&fts=all	P790L	--	--	1																																		ABCC5_uc011bqt.1_Missense_Mutation_p.P318L|ABCC5_uc010hxl.2_Missense_Mutation_p.P790L	0,1	1		benign(0.005)	p.P790L	NM_005688	NP_005679		tolerated(0.05)	0,1	MRP5_HUMAN	ABCC5	HGNC	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		C9JZL5_HUMAN		16	2534	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		UPI000004A33C	790					SNV	ABCC5,missense_variant,p.Pro790Leu,ENST00000334444,NM_005688.2;ABCC5,missense_variant,p.Pro790Leu,ENST00000265586,;ABCC5,3_prime_UTR_variant,,ENST00000437205,;	uc003fmg.2	c.2369C>T	2610/5921	1	1			c.2369C>T						3	SNP	c.(2368-2370)CCG>CTG	49	49			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Broad	ATP-binding cassette, sub-family C, member 5			183679309		0.478	ENSG00000114770	56	g.chr3:183679309G>A		integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity							31.214433	KEEP	9	3	-1	14	12	9	3	-1	32.287413	14	12	0.314286	1	0	0	0	0	1	0	0	0	--	--		0	A			ABCC5_uc011bqt.1_Missense_Mutation_p.P318L|ABCC5_uc010hxl.2_Missense_Mutation_p.P790L	258	GBM-41-5651-TP	p.P790L	G	CTCAACTGGCGGTGTCTCTCC	NM_005688	NP_005679	183679309	O15440	MRP5_HUMAN	0	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		16	2534	-	A	A	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Missense_Mutation	790						
ABCC6	0	broad.mit.edu	GRCh37	16	16272807	16272807	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs72653787		TCGA-28-5211-01	TCGA-28-5211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000205557.7:c.2263G>A	p.Gly755Arg	p.G755R	ENST00000205557	NM_001171.5	755	Gga/Aga	0	T:0		1			T	G/R	uc002den.3	protein_coding	YES	CCDS10568.1			2263/4512									skin(2)|ovary(1)	3	c.(2263-2265)GGA>AGA			Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_patterns:PS00211,PROSITE_profiles:PS50893,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF63,SMART_domains:SM00382,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00957	ATP-binding cassette, sub-family C, member 6			T:0.0001	ENSP00000205557		18/31	4.12E-05			0.000119		6.33E-05			rs72653787,COSM3402110	18/31	.		ENST00000205557	Transcript	1		response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	ENSG00000091262	g.chr16:16272807C>T	57			MODERATE		3.325	medium	getma.org/?cm=msa&ty=f&p=MRP6_HUMAN&rb=670&re=781&var=G755R	getma.org/pdb.php?prot=MRP6_HUMAN&from=670&to=781&var=G755R	getma.org/?cm=var&var=hg19,16,16272807,C,T&fts=all	G755R	--	--	1																																		ABCC6_uc010bvo.2_RNA	1,1	1	17617515	probably_damaging(0.999)	p.G755R	NM_001171	NP_001162		deleterious(0)	0,1	MRP6_HUMAN	ABCC6	HGNC	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)			18	2300	-			UPI00001AE5CA	755			ABC transporter 1.|Cytoplasmic (By similarity).		SNV	ABCC6,missense_variant,p.Gly755Arg,ENST00000205557,NM_001171.5;ABCC6,downstream_gene_variant,,ENST00000574094,;ABCC6,missense_variant,p.Gly755Arg,ENST00000456970,;ABCC6,upstream_gene_variant,,ENST00000576683,;	uc002den.3	c.2263G>A	2293/5747	2	2			c.2263G>A						16	SNP	c.(2263-2265)GGA>AGA	45	45			skin(2)|ovary(1)	3	Broad	ATP-binding cassette, sub-family C, member 6			16272807		0.627	ENSG00000091262	57	g.chr16:16272807C>T	response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances							16.554273	KEEP	5	5	-1	10	8	5	5	-1	17.103271	10	8	0.346154	1	0	0	0	0	1	0	0	0	--	--		0	T			ABCC6_uc010bvo.2_RNA	219	GBM-28-5211-TP	p.G755R	C	TTCTGGCCTCCGGAGAGATTC	NM_001171	NP_001162	16272807	O95255	MRP6_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	18	2300	-	T	T			Missense_Mutation	755			ABC transporter 1.|Cytoplasmic (By similarity).			
ABCC9	10060	broad.mit.edu	GRCh37	12	22069980	22069980	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0189-01	TCGA-06-0189-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261200.4:c.464A>G	p.Tyr155Cys	p.Y155C	ENST00000261200	NM_020297.2	155	tAc/tGc	0			1			C	Y/C	uc001rfi.1	protein_coding		CCDS8694.1			464/4650									ovary(4)|skin(2)	6	c.(463-465)TAC>TGC			hmmpanther:PTHR24223:SF173,hmmpanther:PTHR24223	ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)			ENSP00000261201		Apr-38									COSM3398618,COSM3398619	Apr-38	.		ENST00000261201	Transcript	1		defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	ENSG00000069431	g.chr12:22069980T>C	60			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=ABCC9_HUMAN&rb=1&re=195&var=Y155C	NA	getma.org/?cm=var&var=hg19,12,22069980,T,C&fts=all	Y155C	--	--	1																																		ABCC9_uc001rfh.2_Missense_Mutation_p.Y155C|ABCC9_uc001rfj.1_Missense_Mutation_p.Y155C	1,1			benign(0.003)	p.Y155C	NM_005691	NP_005682		deleterious(0.01)	1,1	ABCC9_HUMAN	ABCC9	HGNC	O60706	ABCC9_HUMAN					4	484	-			UPI000013D141	155			Extracellular (Potential).		SNV	ABCC9,missense_variant,p.Tyr155Cys,ENST00000261200,NM_020297.2;ABCC9,missense_variant,p.Tyr155Cys,ENST00000261201,NM_005691.2;ABCC9,missense_variant,p.Tyr155Cys,ENST00000345162,;	uc001rfi.1	c.464A>G	464/4650	3	3			c.464A>G						12	SNP	c.(463-465)TAC>TGC	16	16			ovary(4)|skin(2)	6	Broad	ATP-binding cassette, sub-family C, member 9		Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	22069980		0.388	ENSG00000069431	59	g.chr12:22069980T>C	defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity							59.790734	KEEP	13	22	-1	116	116	13	22	-1	92.992182	116	116	0.124481	1	0	0	0	0	1	0	0	0	--	--		0	C			ABCC9_uc001rfh.2_Missense_Mutation_p.Y155C|ABCC9_uc001rfj.1_Missense_Mutation_p.Y155C	42	GBM-06-0189-TP	p.Y155C	T	AGACTGACAGTACTTAACCAA	NM_005691	NP_005682	22069980	O60706	ABCC9_HUMAN	0			4	484	-	C	C			Missense_Mutation	155			Extracellular (Potential).			
ABCC9	10060	broad.mit.edu	GRCh37	12	22005399	22005399	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0192-01	TCGA-06-0192-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261200.4:c.2546A>G	p.His849Arg	p.H849R	ENST00000261200	NM_020297.2	849	cAt/cGt	0			1			C	H/R	uc001rfi.1	protein_coding		CCDS8694.1			2546/4650									ovary(4)|skin(2)	6	c.(2545-2547)CAT>CGT			Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,hmmpanther:PTHR24223:SF173,hmmpanther:PTHR24223,PROSITE_profiles:PS50893	ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)			ENSP00000261201		21/38									COSM2150648,COSM2150649	21/38	.		ENST00000261201	Transcript	1		defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	ENSG00000069431	g.chr12:22005399T>C	60			MODERATE		1.025	low	getma.org/?cm=msa&ty=f&p=ABCC9_HUMAN&rb=672&re=912&var=H849R	getma.org/pdb.php?prot=ABCC9_HUMAN&from=672&to=912&var=H849R	getma.org/?cm=var&var=hg19,12,22005399,T,C&fts=all	H849R	--	--	1																																		ABCC9_uc001rfh.2_Missense_Mutation_p.H849R|ABCC9_uc001rfj.1_Missense_Mutation_p.H813R	1,1			possibly_damaging(0.747)	p.H849R	NM_005691	NP_005682		deleterious(0)	1,1	ABCC9_HUMAN	ABCC9	HGNC	O60706	ABCC9_HUMAN					21	2566	-			UPI000013D141	849			Cytoplasmic (Potential).|ABC transporter 1.		SNV	ABCC9,missense_variant,p.His849Arg,ENST00000261200,NM_020297.2;ABCC9,missense_variant,p.His849Arg,ENST00000261201,NM_005691.2;ABCC9,missense_variant,p.His813Arg,ENST00000345162,;ABCC9,missense_variant,p.His476Arg,ENST00000544039,;RP11-729I10.2,intron_variant,,ENST00000539874,;	uc001rfi.1	c.2546A>G	2546/4650	3	3			c.2546A>G						12	SNP	c.(2545-2547)CAT>CGT	14	14			ovary(4)|skin(2)	6	Broad	ATP-binding cassette, sub-family C, member 9		Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	22005399		0.403	ENSG00000069431	59	g.chr12:22005399T>C	defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity							125.348238	KEEP	24	18	-1	47	29	24	18	-1	126.912846	47	29	0.372727	1	0	0	0	0	1	0	0	0	--	--		0	C			ABCC9_uc001rfh.2_Missense_Mutation_p.H849R|ABCC9_uc001rfj.1_Missense_Mutation_p.H813R	44	GBM-06-0192-TP	p.H849R	T	CTGCATTAAATGATCACTCAA	NM_005691	NP_005682	22005399	O60706	ABCC9_HUMAN	0			21	2566	-	C	C			Missense_Mutation	849			Cytoplasmic (Potential).|ABC transporter 1.			
ABCC9	10060	broad.mit.edu	GRCh37	12	21968799	21968799	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-06-6389-01	TCGA-06-6389-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261200.4:c.3921A>C	p.Pro1307=	p.P1307=	ENST00000261200	NM_020297.2	1307	ccA/ccC	0			1			G	P	uc001rfi.1	protein_coding		CCDS8694.1			3921/4650									ovary(4)|skin(2)	6	c.(3919-3921)CCA>CCC			Superfamily_domains:SSF52540,hmmpanther:PTHR24223:SF173,hmmpanther:PTHR24223	ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)			ENSP00000261201		32/38									COSM2153422,COSM2153423	32/38	.		ENST00000261201	Transcript	1		defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	ENSG00000069431	g.chr12:21968799T>G	60			LOW								--	--	1																																		ABCC9_uc001rfh.2_Silent_p.P1307P|ABCC9_uc001rfj.1_Silent_p.P1271P	1,1				p.P1307P	NM_005691	NP_005682			1,1	ABCC9_HUMAN	ABCC9	HGNC	O60706	ABCC9_HUMAN					32	3941	-			UPI000013D141	1307			Cytoplasmic (Potential).		SNV	ABCC9,synonymous_variant,p.=,ENST00000261200,NM_020297.2;ABCC9,synonymous_variant,p.=,ENST00000261201,NM_005691.2;ABCC9,synonymous_variant,p.=,ENST00000345162,;ABCC9,synonymous_variant,p.=,ENST00000544039,;	uc001rfi.1	c.3921A>C	3921/4650	3	3			c.3921A>C						12	SNP	c.(3919-3921)CCA>CCC	13	13			ovary(4)|skin(2)	6	Broad	ATP-binding cassette, sub-family C, member 9		Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	21968799		0.383	ENSG00000069431	59	g.chr12:21968799T>G	defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity							244.610657	KEEP	38	42	-1	53	56	38	42	-1	245.311527	53	56	0.431138	1	0	0	0	0	0	0	1	0	--	--		0	G			ABCC9_uc001rfh.2_Silent_p.P1307P|ABCC9_uc001rfj.1_Silent_p.P1271P	105	GBM-06-6389-TP	p.P1307P	T	CCCCTTCTTGTGGCCAATGTT	NM_005691	NP_005682	21968799	O60706	ABCC9_HUMAN	0			32	3941	-	G	G			Silent	1307			Cytoplasmic (Potential).			
ABCC9	0	broad.mit.edu	GRCh37	12	22065805	22065805	+	splice_donor_variant	Splice_Site	DEL	C	C	-			TCGA-19-2625-01	TCGA-19-2625-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261201.4:c.1011+1delG		p.X337_splice	ENST00000261201	NM_005691.2			0			1			-		uc001rfi.1	protein_coding		CCDS8694.1			1011/4650									ovary(4)|skin(2)	6	c.e6+1				ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)			ENSP00000261201													.		ENST00000261201	Transcript	1		defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	ENSG00000069431	g.chr12:22065805delC	60			HIGH	Jun-37							--	--	1																																		ABCC9_uc001rfh.2_Splice_Site_p.G337_splice|ABCC9_uc001rfj.1_Splice_Site_p.G337_splice					p.G337_splice	NM_005691	NP_005682				ABCC9_HUMAN	ABCC9	HGNC	O60706	ABCC9_HUMAN					6	1031	-			UPI000013D141						deletion	ABCC9,splice_donor_variant,,ENST00000261200,NM_020297.2;ABCC9,splice_donor_variant,,ENST00000261201,NM_005691.2;ABCC9,splice_donor_variant,,ENST00000345162,;ABCC9,upstream_gene_variant,,ENST00000544039,;	uc001rfi.1	c.1011_splice	-/4650	5	5			c.1011_splice						12	DEL	c.e6+1	54	54			ovary(4)|skin(2)	6	Broad	ATP-binding cassette, sub-family C, member 9		Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	22065805		0.353	ENSG00000069431	59	g.chr12:22065805delC	defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity																				0.22	1	1	0	1	0	0	0	0	1	--	--		0	-			ABCC9_uc001rfh.2_Splice_Site_p.G337_splice|ABCC9_uc001rfj.1_Splice_Site_p.G337_splice	165	GBM-19-2625-TP	p.G337_splice	C	CAGGAACTTACTCCAGTTGTG	NM_005691	NP_005682	22065805	O60706	ABCC9_HUMAN	0			6	1031	-	-	-			Splice_Site							
ABCC9	0	broad.mit.edu	GRCh37	12	21960380	21960380	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-27-1838-01	TCGA-27-1838-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261201.4:c.4349G>C	p.Ser1450Thr	p.S1450T	ENST00000261201	NM_005691.2	1450	aGc/aCc	0			1			G	S/T	uc001rfi.1	protein_coding		CCDS8694.1			4349/4650									ovary(4)|skin(2)	6	c.(4348-4350)AGC>ACC			Superfamily_domains:SSF52540,SMART_domains:SM00382,Pfam_domain:PF00005,Gene3D:3.40.50.300,PROSITE_patterns:PS00211,hmmpanther:PTHR24223:SF173,hmmpanther:PTHR24223,PROSITE_profiles:PS50893	ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)			ENSP00000261201		36/38									COSM3398606,COSM3398607	36/38	.		ENST00000261201	Transcript	1		defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	ENSG00000069431	g.chr12:21960380C>G	60			MODERATE		4.33	high	getma.org/?cm=msa&ty=f&p=ABCC9_HUMAN&rb=1353&re=1477&var=S1450T	getma.org/pdb.php?prot=ABCC9_HUMAN&from=1353&to=1477&var=S1450T	getma.org/?cm=var&var=hg19,12,21960380,C,G&fts=all	S1450T	--	--	1																																		ABCC9_uc001rfh.2_Missense_Mutation_p.S1450T|ABCC9_uc001rfj.1_Missense_Mutation_p.S1414T|ABCC9_uc001rfg.2_5'UTR	1,1			probably_damaging(0.949)	p.S1450T	NM_005691	NP_005682		deleterious(0)	1,1	ABCC9_HUMAN	ABCC9	HGNC	O60706	ABCC9_HUMAN					36	4369	-			UPI000013D141	1450			Cytoplasmic (Potential).|ABC transporter 2.		SNV	ABCC9,missense_variant,p.Ser1450Thr,ENST00000261200,NM_020297.2;ABCC9,missense_variant,p.Ser1450Thr,ENST00000261201,NM_005691.2;ABCC9,missense_variant,p.Ser1414Thr,ENST00000345162,;ABCC9,missense_variant,p.Ser1077Thr,ENST00000544039,;	uc001rfi.1	c.4349G>C	4349/4650	3	3			c.4349G>C						12	SNP	c.(4348-4350)AGC>ACC	11	11			ovary(4)|skin(2)	6	Broad	ATP-binding cassette, sub-family C, member 9		Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	21960380		0.433	ENSG00000069431	59	g.chr12:21960380C>G	defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity							110.490379	KEEP	22	24	-1	79	82	22	24	-1	125.023167	79	82	0.21164	1	0	0	0	0	1	0	0	0	--	--		0	G			ABCC9_uc001rfh.2_Missense_Mutation_p.S1450T|ABCC9_uc001rfj.1_Missense_Mutation_p.S1414T|ABCC9_uc001rfg.2_5'UTR	197	GBM-27-1838-TP	p.S1450T	C	CTGTCCAACGCTAAAATTCTC	NM_005691	NP_005682	21960380	O60706	ABCC9_HUMAN	0			36	4369	-	G	G			Missense_Mutation	1450			Cytoplasmic (Potential).|ABC transporter 2.			
ABCC9	0	broad.mit.edu	GRCh37	12	21968784	21968784	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-27-1838-01	TCGA-27-1838-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261201.4:c.3936C>G	p.Ile1312Met	p.I1312M	ENST00000261201	NM_005691.2	1312	atC/atG	0			1			C	I/M	uc001rfi.1	protein_coding		CCDS8694.1			3936/4650									ovary(4)|skin(2)	6	c.(3934-3936)ATC>ATG			Superfamily_domains:SSF52540,Gene3D:3.40.50.300,hmmpanther:PTHR24223:SF173,hmmpanther:PTHR24223,PROSITE_profiles:PS50893	ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)			ENSP00000261201		32/38									COSM3398608,COSM3398609	32/38	.		ENST00000261201	Transcript	1		defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	ENSG00000069431	g.chr12:21968784G>C	60			MODERATE		2.825	medium	getma.org/?cm=msa&ty=f&p=ABCC9_HUMAN&rb=1312&re=1546&var=I1312M	getma.org/pdb.php?prot=ABCC9_HUMAN&from=1312&to=1546&var=I1312M	getma.org/?cm=var&var=hg19,12,21968784,G,C&fts=all	I1312M	--	--	1																																		ABCC9_uc001rfh.2_Missense_Mutation_p.I1312M|ABCC9_uc001rfj.1_Missense_Mutation_p.I1276M	1,1			possibly_damaging(0.786)	p.I1312M	NM_005691	NP_005682		deleterious(0)	1,1	ABCC9_HUMAN	ABCC9	HGNC	O60706	ABCC9_HUMAN					32	3956	-			UPI000013D141	1312			Cytoplasmic (Potential).|ABC transporter 2.		SNV	ABCC9,missense_variant,p.Ile1312Met,ENST00000261200,NM_020297.2;ABCC9,missense_variant,p.Ile1312Met,ENST00000261201,NM_005691.2;ABCC9,missense_variant,p.Ile1276Met,ENST00000345162,;ABCC9,missense_variant,p.Ile939Met,ENST00000544039,;	uc001rfi.1	c.3936C>G	3936/4650	3	3			c.3936C>G						12	SNP	c.(3934-3936)ATC>ATG	59	59			ovary(4)|skin(2)	6	Broad	ATP-binding cassette, sub-family C, member 9		Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	21968784		0.403	ENSG00000069431	59	g.chr12:21968784G>C	defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity							149.866161	KEEP	27	28	-1	91	87	27	28	-1	163.349228	91	87	0.23445	1	0	0	0	0	1	0	0	0	--	--		0	C			ABCC9_uc001rfh.2_Missense_Mutation_p.I1312M|ABCC9_uc001rfj.1_Missense_Mutation_p.I1276M	197	GBM-27-1838-TP	p.I1312M	G	CATGTATCTTGATCTCCCCTT	NM_005691	NP_005682	21968784	O60706	ABCC9_HUMAN	0			32	3956	-	C	C			Missense_Mutation	1312			Cytoplasmic (Potential).|ABC transporter 2.			
ABCC9	0	broad.mit.edu	GRCh37	12	21997717	21997717	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-4935-01	TCGA-76-4935-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261201.4:c.3229A>G	p.Ile1077Val	p.I1077V	ENST00000261201	NM_005691.2	1077	Atc/Gtc	0			1			C	I/V	uc001rfi.1	protein_coding		CCDS8694.1			3229/4650									ovary(4)|skin(2)	6	c.(3229-3231)ATC>GTC			Superfamily_domains:SSF90123,Gene3D:2hydA01,Pfam_domain:PF00664,hmmpanther:PTHR24223:SF173,hmmpanther:PTHR24223,PROSITE_profiles:PS50929,Low_complexity_(Seg):seg	ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)			ENSP00000261201		25/38									COSM3398616,COSM3398617	25/38	.		ENST00000261201	Transcript	1		defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	ENSG00000069431	g.chr12:21997717T>C	60			MODERATE		0.6	neutral	getma.org/?cm=msa&ty=f&p=ABCC9_HUMAN&rb=994&re=1266&var=I1077V	getma.org/pdb.php?prot=ABCC9_HUMAN&from=994&to=1266&var=I1077V	getma.org/?cm=var&var=hg19,12,21997717,T,C&fts=all	I1077V	--	--	1																																		ABCC9_uc001rfh.2_Missense_Mutation_p.I1077V|ABCC9_uc001rfj.1_Missense_Mutation_p.I1041V	1,1			benign(0.086)	p.I1077V	NM_005691	NP_005682		tolerated(0.28)	1,1	ABCC9_HUMAN	ABCC9	HGNC	O60706	ABCC9_HUMAN					25	3249	-			UPI000013D141	1077			ABC transmembrane type-1 2.|Cytoplasmic (Potential).		SNV	ABCC9,missense_variant,p.Ile1077Val,ENST00000261200,NM_020297.2;ABCC9,missense_variant,p.Ile1077Val,ENST00000261201,NM_005691.2;ABCC9,missense_variant,p.Ile1041Val,ENST00000345162,;ABCC9,missense_variant,p.Ile704Val,ENST00000544039,;RP11-729I10.2,intron_variant,,ENST00000539874,;	uc001rfi.1	c.3229A>G	3229/4650	3	3			c.3229A>G						12	SNP	c.(3229-3231)ATC>GTC	57	57			ovary(4)|skin(2)	6	Broad	ATP-binding cassette, sub-family C, member 9		Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	21997717		0.368	ENSG00000069431	59	g.chr12:21997717T>C	defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity							-5.352277	KEEP	5	8	-1	113	102	5	8	-1	30.766435	113	102	0.065217	1	0	0	0	0	1	0	0	0	--	--		0	C			ABCC9_uc001rfh.2_Missense_Mutation_p.I1077V|ABCC9_uc001rfj.1_Missense_Mutation_p.I1041V	273	GBM-76-4935-TP	p.I1077V	T	GGTCCAAGGATTATCTTATTG	NM_005691	NP_005682	21997717	O60706	ABCC9_HUMAN	0			25	3249	-	C	C			Missense_Mutation	1077			ABC transmembrane type-1 2.|Cytoplasmic (Potential).			
ABCC9	10060	broad.mit.edu	GRCh37	12	21954093	21954093	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-6450-01	TCGA-28-6450-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261200.4:c.4535C>T	p.Thr1512Met	p.T1512M	ENST00000261200	NM_020297.2	1512	aCg/aTg	0		A:0.0008	1	A:0		A		uc001rfh.2	protein_coding		CCDS8694.1			-/4650									ovary(4)|skin(2)	6	c.(4534-4536)ACG>ATG	4015			ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	A:0		ENSP00000261201	A:0		2.47E-05	9.62E-05				3.00E-05			rs554811993,COSM3398605		.		ENST00000261201	Transcript	1	A:0.0002	defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	ENSG00000069431	g.chr12:21954093G>A	60			MODIFIER		0.4	neutral	getma.org/?cm=msa&ty=f&p=Q8N9N1_HUMAN&rb=49&re=120&var=T83M	getma.org/pdb.php?prot=Q8N9N1_HUMAN&from=49&to=120&var=T83M	getma.org/?cm=var&var=hg19,12,21954093,G,A&fts=all	T83M	--	--	1																																		ABCC9_uc001rfg.2_Missense_Mutation_p.T41M	0,1				p.T1512M	NM_020297	NP_064693	A:0		0,1	ABCC9_HUMAN	ABCC9	HGNC	O60706	ABCC9_HUMAN					38	4555	-			UPI000013D141	1512			Cytoplasmic (Potential).|ABC transporter 2.		SNV	ABCC9,missense_variant,p.Thr1512Met,ENST00000261200,NM_020297.2;ABCC9,downstream_gene_variant,,ENST00000261201,NM_005691.2;ABCC9,downstream_gene_variant,,ENST00000345162,;ABCC9,downstream_gene_variant,,ENST00000544039,;	uc001rfh.2	c.4535C>T	-/4650	2	2			c.4535C>T						12	SNP	c.(4534-4536)ACG>ATG	36	36			ovary(4)|skin(2)	6	Broad	ATP-binding cassette, sub-family C, member 9		Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	21954093		0.383	ENSG00000069431	59	g.chr12:21954093G>A	defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity							67.659613	KEEP	13	13	-1	29	20	13	13	-1	69.03355	29	20	0.347826	1	0	0	0	0	1	0	0	0	--	--		0	A			ABCC9_uc001rfg.2_Missense_Mutation_p.T41M	227	GBM-28-6450-TP	p.T1512M	G	CAGGTCTGCCGTCAGAATAGT	NM_020297	NP_064693	21954093	O60706	ABCC9_HUMAN	0			38	4555	-	A	A			Missense_Mutation	1512			Cytoplasmic (Potential).|ABC transporter 2.			
ABCC9	10060		GRCh37	12	21997449	21997449	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000261200.4:c.3283C>T	p.Arg1095Cys	p.R1095C	ENST00000261200	NM_020297.2	1095	Cgc/Tgc	0																																																																																																																																																																																																																																												
ABCD1	0	broad.mit.edu	GRCh37	X	153008746	153008746	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01	TCGA-76-4935-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000218104.3:c.1937C>T	p.Ala646Val	p.A646V	ENST00000218104	NM_000033.3	646	gCg/gTg	0			1			T	A/V	uc004fif.2	protein_coding	YES	CCDS14728.1			1937/2238										0	c.(1936-1938)GCG>GTG			Gene3D:3.40.50.300,PROSITE_profiles:PS50893,hmmpanther:PTHR11384,hmmpanther:PTHR11384:SF21,SMART_domains:SM00382,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00954	ATP-binding cassette, sub-family D (ALD), member				ENSP00000218104		10-Sep									COSM3406107	10-Sep	.		ENST00000218104	Transcript	1		fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	ENSG00000101986	g.chrX:153008746C>T	61			MODERATE		1.175	low	getma.org/?cm=msa&ty=f&p=ABCD1_HUMAN&rb=474&re=700&var=A646V	getma.org/pdb.php?prot=ABCD1_HUMAN&from=474&to=700&var=A646V	getma.org/?cm=var&var=hg19,X,153008746,C,T&fts=all	A646V	--	--	1																																		ABCD1_uc004fig.2_Missense_Mutation_p.A146V|ABCD1_uc004fih.2_RNA	1	1		benign(0.177)	p.A646V	NM_000033	NP_000024		tolerated(0.15)	1	ABCD1_HUMAN	ABCD1	HGNC	P33897	ABCD1_HUMAN					9	2336	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		UPI0000000DF5	646		A -> P (in X-ALD).	ABC transporter.		SNV	ABCD1,missense_variant,p.Ala646Val,ENST00000218104,NM_000033.3;ABCD1,downstream_gene_variant,,ENST00000443684,;U52111.14,intron_variant,,ENST00000434284,;	uc004fif.2	c.1937C>T	2336/3664	1	1			c.1937C>T						23	SNP	c.(1936-1938)GCG>GTG	15	15				0	Broad	ATP-binding cassette, sub-family D (ALD), member			153008746		0.672	ENSG00000101986	60	g.chrX:153008746C>T	fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity							22.191529	KEEP	4	5	-1	7	14	4	5	-1	23.192315	7	14	0.296296	1	0	0	0	0	1	0	0	0	--	--		0	T			ABCD1_uc004fig.2_Missense_Mutation_p.A146V|ABCD1_uc004fih.2_RNA	273	GBM-76-4935-TP	p.A646V	C	ATCTTCCAGGCGGCCAAGGAC	NM_000033	NP_000024	153008746	P33897	ABCD1_HUMAN	0			9	2336	+	T	T	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	646		A -> P (in X-ALD).	ABC transporter.			
ABCD2	225	broad.mit.edu	GRCh37	12	40012537	40012538	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-06-0137-01	TCGA-06-0137-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308666.3:c.880dup	p.Tyr294LeufsTer20	p.Y294Lfs*20	ENST00000308666	NM_005164.3	294	tat/tTat	0			1			A	Y/LX	uc001rmb.2	protein_coding	YES	CCDS8734.1			880-881/2223									ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6	c.(880-882)TATfs			Pfam_domain:PF06472,PROSITE_profiles:PS50929,hmmpanther:PTHR11384,hmmpanther:PTHR11384:SF24,Superfamily_domains:SSF90123	ATP-binding cassette, sub-family D, member 2				ENSP00000310688		10-Jan										10-Jan	.		ENST00000308666	Transcript			fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	ENSG00000173208	g.chr12:40012537_40012538insA	66			HIGH								--	--	1																																				1			p.Y294fs	NM_005164	NP_005155				ABCD2_HUMAN	ABCD2	HGNC	Q9UBJ2	ABCD2_HUMAN					1	1306_1307	-			UPI000004C4C6	294			ABC transmembrane type-1.		insertion	ABCD2,frameshift_variant,p.Tyr294LeufsTer20,ENST00000308666,NM_005164.3;	uc001rmb.2	c.880_881insT	1016-1017/6238	5	5			c.880_881insT						12	INS	c.(880-882)TATfs	59	59			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6	Broad	ATP-binding cassette, sub-family D, member 2			40012538		0.406	ENSG00000173208	61	g.chr12:40012537_40012538insA	fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding																				0.38	1	0	0	1	1	0	0	0	0	--	--		0	A				18	GBM-06-0137-TP	p.Y294fs	-	CGAGTGCACATACCGCAAATAG	NM_005164	NP_005155	40012537	Q9UBJ2	ABCD2_HUMAN	0			1	1306_1307	-	A	A			Frame_Shift_Ins	294			ABC transmembrane type-1.			
ABCD2	225	broad.mit.edu	GRCh37	12	40001468	40001468	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308666.3:c.1169C>T	p.Thr390Ile	p.T390I	ENST00000308666	NM_005164.3	390	aCc/aTc	0			1			A	T/I	uc001rmb.2	protein_coding	YES	CCDS8734.1			1169/2223									ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6	c.(1168-1170)ACC>ATC			hmmpanther:PTHR11384,hmmpanther:PTHR11384:SF24	ATP-binding cassette, sub-family D, member 2				ENSP00000310688		10-Mar									COSM2151855	10-Mar	.		ENST00000308666	Transcript			fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	ENSG00000173208	g.chr12:40001468G>A	66			MODERATE		0.475	neutral	getma.org/?cm=msa&ty=f&p=ABCD2_HUMAN&rb=107&re=399&var=T390I	NA	getma.org/?cm=var&var=hg19,12,40001468,G,A&fts=all	T390I	--	--	1																																			1	1		benign(0.034)	p.T390I	NM_005164	NP_005155		tolerated(0.05)	1	ABCD2_HUMAN	ABCD2	HGNC	Q9UBJ2	ABCD2_HUMAN					3	1595	-			UPI000004C4C6	390			ABC transmembrane type-1.		SNV	ABCD2,missense_variant,p.Thr390Ile,ENST00000308666,NM_005164.3;	uc001rmb.2	c.1169C>T	1305/6238	1	1			c.1169C>T						12	SNP	c.(1168-1170)ACC>ATC	49	49			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6	Broad	ATP-binding cassette, sub-family D, member 2			40001468		0.323	ENSG00000173208	61	g.chr12:40001468G>A	fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding							124.349135	KEEP	28	21	-1	40	24	28	21	-1	124.435172	40	24	0.466667	1	0	0	0	0	1	0	0	0	--	--		0	A				68	GBM-06-0747-TP	p.T390I	G	TCGAGCAGTGGTAAAGGCTTC	NM_005164	NP_005155	40001468	Q9UBJ2	ABCD2_HUMAN	0			3	1595	-	A	A			Missense_Mutation	390			ABC transmembrane type-1.			
ABCD2	0	broad.mit.edu	GRCh37	12	40012546	40012546	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-27-2524-01	TCGA-27-2524-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308666.3:c.872A>G	p.Tyr291Cys	p.Y291C	ENST00000308666	NM_005164.3	291	tAt/tGt	0			1			C	Y/C	uc001rmb.2	protein_coding	YES	CCDS8734.1			872/2223									ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6	c.(871-873)TAT>TGT			Pfam_domain:PF06472,PROSITE_profiles:PS50929,hmmpanther:PTHR11384,hmmpanther:PTHR11384:SF24,Superfamily_domains:SSF90123	ATP-binding cassette, sub-family D, member 2				ENSP00000310688		10-Jan									COSM3398691	10-Jan	.		ENST00000308666	Transcript			fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	ENSG00000173208	g.chr12:40012546T>C	66			MODERATE		2.43	medium	getma.org/?cm=msa&ty=f&p=ABCD2_HUMAN&rb=78&re=365&var=Y291C	NA	getma.org/?cm=var&var=hg19,12,40012546,T,C&fts=all	Y291C	--	--	1																																			1	1		benign(0.049)	p.Y291C	NM_005164	NP_005155		tolerated(0.15)	1	ABCD2_HUMAN	ABCD2	HGNC	Q9UBJ2	ABCD2_HUMAN					1	1298	-			UPI000004C4C6	291			ABC transmembrane type-1.		SNV	ABCD2,missense_variant,p.Tyr291Cys,ENST00000308666,NM_005164.3;	uc001rmb.2	c.872A>G	1008/6238	3	3			c.872A>G						12	SNP	c.(871-873)TAT>TGT	53	53			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6	Broad	ATP-binding cassette, sub-family D, member 2			40012546		0.413	ENSG00000173208	61	g.chr12:40012546T>C	fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding							411.842164	KEEP	65	65	-1	88	110	65	65	-1	414.592617	88	110	0.39661	1	0	0	0	0	1	0	0	0	--	--		0	C				202	GBM-27-2524-TP	p.Y291C	T	ATACCGCAAATAGCCTTTTCT	NM_005164	NP_005155	40012546	Q9UBJ2	ABCD2_HUMAN	0			1	1298	-	C	C			Missense_Mutation	291			ABC transmembrane type-1.			
ABCD2	0	broad.mit.edu	GRCh37	12	40013182	40013182	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-4209-01	TCGA-32-4209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308666.3:c.236G>C	p.Gly79Ala	p.G79A	ENST00000308666	NM_005164.3	79	gGa/gCa	0			1			G	G/A	uc001rmb.2	protein_coding	YES	CCDS8734.1			236/2223									ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6	c.(235-237)GGA>GCA			hmmpanther:PTHR11384,hmmpanther:PTHR11384:SF24	ATP-binding cassette, sub-family D, member 2				ENSP00000310688		10-Jan									COSM3398692	10-Jan	.		ENST00000308666	Transcript			fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	ENSG00000173208	g.chr12:40013182C>G	66			MODERATE		-0.09	neutral	getma.org/?cm=msa&ty=f&p=ABCD2_HUMAN&rb=78&re=365&var=G79A	NA	getma.org/?cm=var&var=hg19,12,40013182,C,G&fts=all	G79A	--	--	1																																			1	1		benign(0.003)	p.G79A	NM_005164	NP_005155		tolerated(0.45)	1	ABCD2_HUMAN	ABCD2	HGNC	Q9UBJ2	ABCD2_HUMAN					1	662	-			UPI000004C4C6	79			Interaction with PEX19.		SNV	ABCD2,missense_variant,p.Gly79Ala,ENST00000308666,NM_005164.3;	uc001rmb.2	c.236G>C	372/6238	3	3			c.236G>C						12	SNP	c.(235-237)GGA>GCA	6	6			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6	Broad	ATP-binding cassette, sub-family D, member 2			40013182		0.463	ENSG00000173208	61	g.chr12:40013182C>G	fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding							304.118972	KEEP	42	52	-1	118	122	42	52	-1	317.25223	118	122	0.28481	1	0	0	0	0	1	0	0	0	--	--		0	G				244	GBM-32-4209-TP	p.G79A	C	TGCATTCACTCCAGGCGAAGG	NM_005164	NP_005155	40013182	Q9UBJ2	ABCD2_HUMAN	0			1	662	-	G	G			Missense_Mutation	79			Interaction with PEX19.			
ABCD3	0	broad.mit.edu	GRCh37	1	94965170	94965170	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370214.4:c.1740G>A	p.Ala580=	p.A580=	ENST00000370214	NM_002858.3	580	gcG/gcA	0			1			A	A	uc001dqn.3	protein_coding	YES	CCDS749.1			1740/1980									skin(1)	1	c.(1738-1740)GCG>GCA			PROSITE_profiles:PS50893,hmmpanther:PTHR11384:SF26,hmmpanther:PTHR11384,PROSITE_patterns:PS00211,Pfam_domain:PF00005,TIGRFAM_domain:TIGR00954,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	ATP-binding cassette, sub-family D, member 3				ENSP00000359233		20/23	4.12E-05					7.50E-05			rs775452501,COSM3401105	20/23	.		ENST00000370214	Transcript			peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	ENSG00000117528	g.chr1:94965170G>A	67			LOW								--	--	1																																		ABCD3_uc010oto.1_Silent_p.A604A|ABCD3_uc010otp.1_Silent_p.A507A|ABCD3_uc009wdr.2_Silent_p.A470A|ABCD3_uc001dqo.3_Silent_p.A268A	0,1	1			p.A580A	NM_002858	NP_002849			0,1	ABCD3_HUMAN	ABCD3	HGNC	P28288	ABCD3_HUMAN		all cancers(265;0.0261)|Epithelial(280;0.165)	F5GYC1_HUMAN		20	1842	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)	UPI000004C4C7	580			ABC transporter.		SNV	ABCD3,splice_region_variant,p.=,ENST00000370214,NM_002858.3;ABCD3,splice_region_variant,p.=,ENST00000394233,;ABCD3,splice_region_variant,p.=,ENST00000536817,;ABCD3,splice_region_variant,p.=,ENST00000454898,;ABCD3,splice_region_variant,,ENST00000484213,;	uc001dqn.3	c.1740G>A	1764/3538	2	2			c.1740G>A						1	SNP	c.(1738-1740)GCG>GCA	25	25			skin(1)	1	Broad	ATP-binding cassette, sub-family D, member 3			94965170		0.418	ENSG00000117528	62	g.chr1:94965170G>A	peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances							-21.477429	KEEP	3	0	-1	66	66	3	0	-1	6.521353	66	66	0.026549	1	0	0	0	0	0	0	1	0	--	--		0	A			ABCD3_uc010oto.1_Silent_p.A604A|ABCD3_uc010otp.1_Silent_p.A507A|ABCD3_uc009wdr.2_Silent_p.A470A|ABCD3_uc001dqo.3_Silent_p.A268A	197	GBM-27-1838-TP	p.A580A	G	AAAGAATGGCGGTAAGTATAC	NM_002858	NP_002849	94965170	P28288	ABCD3_HUMAN	0		all cancers(265;0.0261)|Epithelial(280;0.165)	20	1842	+	A	A		all_lung(203;0.000434)|Lung NSC(277;0.0019)	Silent	580			ABC transporter.			
ABCD3	0	broad.mit.edu	GRCh37	1	94953473	94953473	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-2632-01	TCGA-32-2632-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370214.4:c.1091T>C	p.Leu364Pro	p.L364P	ENST00000370214	NM_002858.3	364	cTt/cCt	0			1			C	L/P	uc001dqn.3	protein_coding	YES	CCDS749.1			1091/1980									skin(1)	1	c.(1090-1092)CTT>CCT			hmmpanther:PTHR11384:SF26,hmmpanther:PTHR11384,TIGRFAM_domain:TIGR00954	ATP-binding cassette, sub-family D, member 3				ENSP00000359233		13/23									COSM3401104	13/23	.		ENST00000370214	Transcript			peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	ENSG00000117528	g.chr1:94953473T>C	67			MODERATE		3.115	medium	getma.org/?cm=msa&ty=f&p=ABCD3_HUMAN&rb=85&re=372&var=L364P	NA	getma.org/?cm=var&var=hg19,1,94953473,T,C&fts=all	L364P	--	--	1																																		ABCD3_uc010oto.1_Missense_Mutation_p.L388P|ABCD3_uc010otp.1_Missense_Mutation_p.L291P|ABCD3_uc009wdr.2_Intron|ABCD3_uc001dqo.3_Missense_Mutation_p.L52P	1	1		probably_damaging(0.992)	p.L364P	NM_002858	NP_002849		deleterious(0)	1	ABCD3_HUMAN	ABCD3	HGNC	P28288	ABCD3_HUMAN		all cancers(265;0.0261)|Epithelial(280;0.165)	F5GYC1_HUMAN		13	1193	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)	UPI000004C4C7	364			ABC transmembrane type-1.		SNV	ABCD3,missense_variant,p.Leu364Pro,ENST00000370214,NM_002858.3;ABCD3,missense_variant,p.Leu291Pro,ENST00000536817,;ABCD3,missense_variant,p.Leu388Pro,ENST00000454898,;ABCD3,intron_variant,,ENST00000394233,;ABCD3,non_coding_transcript_exon_variant,,ENST00000484213,;ABCD3,downstream_gene_variant,,ENST00000493416,;	uc001dqn.3	c.1091T>C	1115/3538	4	4			c.1091T>C						1	SNP	c.(1090-1092)CTT>CCT	39	39			skin(1)	1	Broad	ATP-binding cassette, sub-family D, member 3			94953473		0.333	ENSG00000117528	62	g.chr1:94953473T>C	peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances							10.097419	KEEP	6	6	-1	71	36	6	6	-1	26.281933	71	36	0.092784	1	0	0	0	0	1	0	0	0	--	--		0	C			ABCD3_uc010oto.1_Missense_Mutation_p.L388P|ABCD3_uc010otp.1_Missense_Mutation_p.L291P|ABCD3_uc009wdr.2_Intron|ABCD3_uc001dqo.3_Missense_Mutation_p.L52P	240	GBM-32-2632-TP	p.L364P	T	GGAAGAATGCTTTTGCGAATG	NM_002858	NP_002849	94953473	P28288	ABCD3_HUMAN	0		all cancers(265;0.0261)|Epithelial(280;0.165)	13	1193	+	C	C		all_lung(203;0.000434)|Lung NSC(277;0.0019)	Missense_Mutation	364			ABC transmembrane type-1.			
ABCF1	23	broad.mit.edu	GRCh37	6	30552069	30552069	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0648-01	TCGA-06-0648-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326195.8:c.1204del	p.Glu402AsnfsTer11	p.E402Nfs*11	ENST00000326195	NM_001025091.1	401	ctG/ct	0			1			-	L/X	uc003nql.2	protein_coding	YES	CCDS34380.1			1203/2538									ovary(2)	2	c.(1201-1203)CTGfs			Low_complexity_(Seg):seg,PROSITE_profiles:PS50893,hmmpanther:PTHR19211,hmmpanther:PTHR19211:SF14,Pfam_domain:PF00005,Gene3D:3.40.50.300,SMART_domains:SM00382	ATP-binding cassette, sub-family F, member 1				ENSP00000313603		13/25									COSM2151375	13/25	.		ENST00000326195	Transcript			inflammatory response|translational initiation	nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome	ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	ENSG00000204574	g.chr6:30552069delG	70	1		HIGH								--	--	1																																		ABCF1_uc003nqk.2_Frame_Shift_Del_p.L402fs|ABCF1_uc003nqm.2_Frame_Shift_Del_p.L363fs|ABCF1_uc010jsb.2_Intron|MIR877_hsa-mir-877|MI0005561_5'Flank	1	1			p.L401fs	NM_001025091	NP_001020262			1	ABCF1_HUMAN	ABCF1	HGNC	Q8NE71	ABCF1_HUMAN			F5GYK6_HUMAN		13	1298	+			UPI0000141876	401			ABC transporter 1.		deletion	ABCF1,frameshift_variant,p.Glu402AsnfsTer11,ENST00000326195,NM_001025091.1;ABCF1,frameshift_variant,p.Glu364AsnfsTer11,ENST00000376545,NM_001090.2;ABCF1,intron_variant,,ENST00000396515,;ABCF1,downstream_gene_variant,,ENST00000441867,;ABCF1,downstream_gene_variant,,ENST00000468958,;MIR877,upstream_gene_variant,,ENST00000401282,;ABCF1,frameshift_variant,p.Glu153AsnfsTer11,ENST00000475993,;	uc003nql.2	c.1203delG	1315/3481	5	5			c.1203delG						6	DEL	c.(1201-1203)CTGfs	1	1			ovary(2)	2	Broad	ATP-binding cassette, sub-family F, member 1			30552069		0.592	ENSG00000204574	65	g.chr6:30552069delG	inflammatory response|translational initiation	nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome	ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding																				0.36	1	1	0	1	0	0	0	0	0	--	--		0	-			ABCF1_uc003nqk.2_Frame_Shift_Del_p.L402fs|ABCF1_uc003nqm.2_Frame_Shift_Del_p.L363fs|ABCF1_uc010jsb.2_Intron|MIR877_hsa-mir-877|MI0005561_5'Flank	61	GBM-06-0648-TP	p.L401fs	G	AGGGACAGCTGGAACAAGGGG	NM_001025091	NP_001020262	30552069	Q8NE71	ABCF1_HUMAN	0			13	1298	+	-	-			Frame_Shift_Del	401			ABC transporter 1.			
ABCF1	23		GRCh37	6	30545667	30545667	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000326195.8:c.193C>G	p.Gln65Glu	p.Q65E	ENST00000326195	NM_001025091.1	65	Cag/Gag	0																																																																																																																																																																																																																																												
ABCF1	23		GRCh37	6	30548286	30548286	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000326195.8:c.668A>G	p.Lys223Arg	p.K223R	ENST00000326195	NM_001025091.1	223	aAg/aGg	0																																																																																																																																																																																																																																												
ABCF2	10061	broad.mit.edu	GRCh37	7	150921937	150921937	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-2564-01	TCGA-06-2564-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222388.2:c.292C>T	p.Gln98Ter	p.Q98*	ENST00000222388	NM_005692.4	98	Caa/Taa	0			1			A	Q/*	uc003wjp.2	protein_coding		CCDS5923.1			292/1872									central_nervous_system(1)	1	c.(292-294)CAA>TAA			PROSITE_profiles:PS50893,hmmpanther:PTHR19211,hmmpanther:PTHR19211:SF15,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	ATP-binding cassette, sub-family F, member 2				ENSP00000287844		15-Mar									COSM2152960,COSM3411819	15-Mar	.		ENST00000287844	Transcript				ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity	ENSG00000033050	g.chr7:150921937G>A	71			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,150921937,G,A&fts=all	Q98*	--	--	1																																		ABCF2_uc003wjo.1_Nonsense_Mutation_p.Q98*	1,1				p.Q98*	NM_007189	NP_009120			1,1	ABCF2_HUMAN	ABCF2	HGNC	Q9UG63	ABCF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	C9JZV3_HUMAN,C9JHK9_HUMAN		3	403	-			UPI0000000C30	98			ABC transporter 1.		SNV	ABCF2,stop_gained,p.Gln98Ter,ENST00000287844,NM_007189.2;ABCF2,stop_gained,p.Gln98Ter,ENST00000222388,NM_005692.4;ABCF2,stop_gained,p.Gln98Ter,ENST00000468073,;ABCF2,stop_gained,p.Gln98Ter,ENST00000441774,;ABCF2,upstream_gene_variant,,ENST00000473874,;ABCF2,downstream_gene_variant,,ENST00000477252,;	uc003wjp.2	c.292C>T	402/3546	5	2			c.292C>T						7	SNP	c.(292-294)CAA>TAA	29	29			central_nervous_system(1)	1	Broad	ATP-binding cassette, sub-family F, member 2			150921937		0.507	ENSG00000033050	66	g.chr7:150921937G>A		ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity							126.519746	KEEP	22	32	-1	80	102	22	32	-1	141.514531	80	102	0.233766	1	0	0	0	0	0	1	0	0	--	--		0	A			ABCF2_uc003wjo.1_Nonsense_Mutation_p.Q98*	87	GBM-06-2564-TP	p.Q98*	G	AGCAGCTCTTGACCATGAAAG	NM_007189	NP_009120	150921937	Q9UG63	ABCF2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	403	-	A	A			Nonsense_Mutation	98			ABC transporter 1.			
ABCG1	0	broad.mit.edu	GRCh37	21	43711761	43711761	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-15-0742-01	TCGA-15-0742-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361802.2:c.1684C>T	p.Leu562=	p.L562=	ENST00000361802	NM_004915.3	562	Ctg/Ttg	0			1			T	L	uc002zaq.2	protein_coding	YES	CCDS13682.1			1684/2037									ovary(2)|central_nervous_system(1)	3	c.(1684-1686)CTG>TTG			hmmpanther:PTHR19241:SF177,hmmpanther:PTHR19241,TIGRFAM_domain:TIGR00955,Pfam_domain:PF01061	ATP-binding cassette sub-family G member 1	Adenosine triphosphate(DB00171)			ENSP00000354995		13/15									COSM3405418,COSM3405420,COSM3405419	13/15	.		ENST00000361802	Transcript			amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	ENSG00000160179	g.chr21:43711761C>T	73			LOW								--	--	1																																		ABCG1_uc002zan.2_Silent_p.L552L|ABCG1_uc002zam.2_Silent_p.L528L|ABCG1_uc002zao.2_Silent_p.L547L|ABCG1_uc002zap.2_Silent_p.L550L|ABCG1_uc002zar.2_Silent_p.L561L|ABCG1_uc011aev.1_Silent_p.L573L|ABCG1_uc010gpb.1_Missense_Mutation_p.P202L	1,1,1	1			p.L562L	NM_004915	NP_004906			1,1,1	ABCG1_HUMAN	ABCG1	HGNC	P45844	ABCG1_HUMAN			O43576_HUMAN		13	1790	+			UPI0000125130	562			ABC transmembrane type-2.|Cytoplasmic (Potential).		SNV	ABCG1,synonymous_variant,p.=,ENST00000398437,;ABCG1,synonymous_variant,p.=,ENST00000340588,;ABCG1,synonymous_variant,p.=,ENST00000398457,NM_207628.1,NM_207627.1;ABCG1,synonymous_variant,p.=,ENST00000343687,NM_207174.1;ABCG1,synonymous_variant,p.=,ENST00000361802,NM_004915.3;ABCG1,synonymous_variant,p.=,ENST00000398449,NM_016818.2;ABCG1,synonymous_variant,p.=,ENST00000347800,NM_207629.1;ABCG1,non_coding_transcript_exon_variant,,ENST00000462050,;ABCG1,non_coding_transcript_exon_variant,,ENST00000472587,;ABCG1,non_coding_transcript_exon_variant,,ENST00000496783,;	uc002zaq.2	c.1684C>T	1829/3034	2	2			c.1684C>T						21	SNP	c.(1684-1686)CTG>TTG	39	39			ovary(2)|central_nervous_system(1)	3	Broad	ATP-binding cassette sub-family G member 1		Adenosine triphosphate(DB00171)	43711761		0.677	ENSG00000160179	68	g.chr21:43711761C>T	amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity							38.395263	KEEP	5	8	-1	14	12	5	8	-1	38.519944	14	12	0.428571	1	0	0	0	0	0	0	1	0	--	--		0	T			ABCG1_uc002zan.2_Silent_p.L552L|ABCG1_uc002zam.2_Silent_p.L528L|ABCG1_uc002zao.2_Silent_p.L547L|ABCG1_uc002zap.2_Silent_p.L550L|ABCG1_uc002zar.2_Silent_p.L561L|ABCG1_uc011aev.1_Silent_p.L573L|ABCG1_uc010gpb.1_Missense_Mutation_p.P202L	153	GBM-15-0742-TP	p.L562L	C	CTCCACGTCCCTGCAGGTGCC	NM_004915	NP_004906	43711761	P45844	ABCG1_HUMAN	0			13	1790	+	T	T			Silent	562			ABC transmembrane type-2.|Cytoplasmic (Potential).			
ABCG1	9619		GRCh37	21	43716431	43716431	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000361802.2:c.1966G>A	p.Gly656Arg	p.G656R	ENST00000361802	NM_004915.3	656	Ggg/Agg	0																																																																																																																																																																																																																																												
ABCG2	9429	broad.mit.edu	GRCh37	4	89053011	89053011	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0141-01	TCGA-06-0141-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000237612.3:c.322A>G	p.Ile108Val	p.I108V	ENST00000237612	NM_004827.2	108	Ata/Gta	0			1			C	I/V	uc003hrg.2	protein_coding	YES	CCDS3628.1			322/1968									central_nervous_system(1)	1	c.(322-324)ATA>GTA			PROSITE_profiles:PS50893,hmmpanther:PTHR19241:SF198,hmmpanther:PTHR19241,Pfam_domain:PF00005,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	ATP-binding cassette, sub-family G, member 2	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)			ENSP00000237612		16-Apr									COSM3409609,COSM3409610	16-Apr	.		ENST00000237612	Transcript	1		cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	ENSG00000118777	g.chr4:89053011T>C	74			MODERATE		-0.165	neutral	getma.org/?cm=msa&ty=f&p=ABCG2_HUMAN&rb=87&re=214&var=I108V	getma.org/pdb.php?prot=ABCG2_HUMAN&from=87&to=214&var=I108V	getma.org/?cm=var&var=hg19,4,89053011,T,C&fts=all	I108V	--	--	1																																		ABCG2_uc003hrh.2_Missense_Mutation_p.I108V|ABCG2_uc003hrf.2_5'UTR|ABCG2_uc003hri.1_Missense_Mutation_p.I108V|ABCG2_uc003hrj.1_Missense_Mutation_p.I108V|ABCG2_uc003hrk.1_Missense_Mutation_p.I108V	1,1	1		benign(0.074)	p.I108V	NM_004827	NP_004818		tolerated(0.11)	1,1	ABCG2_HUMAN	ABCG2	HGNC	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	F8S0F2_HUMAN		4	815	-		Hepatocellular(203;0.114)	UPI0000001275	108			ABC transporter.|Cytoplasmic (Potential).		SNV	ABCG2,missense_variant,p.Ile108Val,ENST00000237612,NM_004827.2;ABCG2,missense_variant,p.Ile108Val,ENST00000515655,NM_001257386.1;ABCG2,missense_variant,p.Ile146Val,ENST00000505480,;ABCG2,missense_variant,p.Ile126Val,ENST00000503830,;	uc003hrg.2	c.322A>G	868/4479	3	3			c.322A>G						4	SNP	c.(322-324)ATA>GTA	8	8			central_nervous_system(1)	1	Broad	ATP-binding cassette, sub-family G, member 2		Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	89053011		0.378	ENSG00000118777	69	g.chr4:89053011T>C	cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity							-1.951932	KEEP	1	3	-1	27	37	1	3	-1	11.084045	27	37	0.061538	1	0	0	0	0	1	0	0	0	--	--		0	C			ABCG2_uc003hrh.2_Missense_Mutation_p.I108V|ABCG2_uc003hrf.2_5'UTR|ABCG2_uc003hri.1_Missense_Mutation_p.I108V|ABCG2_uc003hrj.1_Missense_Mutation_p.I108V|ABCG2_uc003hrk.1_Missense_Mutation_p.I108V	21	GBM-06-0141-TP	p.I108V	T	GCTCCATTTATCAGAACATCT	NM_004827	NP_004818	89053011	Q9UNQ0	ABCG2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	4	815	-	C	C		Hepatocellular(203;0.114)	Missense_Mutation	108			ABC transporter.|Cytoplasmic (Potential).			
ABCG2	0	broad.mit.edu	GRCh37	4	89061129	89061129	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01	TCGA-19-5950-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000237612.3:c.19G>A	p.Glu7Lys	p.E7K	ENST00000237612	NM_004827.2	7	Gaa/Aaa	0			1			T	E/K	uc003hrg.2	protein_coding	YES	CCDS3628.1			19/1968									central_nervous_system(1)	1	c.(19-21)GAA>AAA			hmmpanther:PTHR19241:SF198,hmmpanther:PTHR19241	ATP-binding cassette, sub-family G, member 2	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)			ENSP00000237612		16-Feb									COSM2156540,COSM2156539	16-Feb	.		ENST00000237612	Transcript	1		cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	ENSG00000118777	g.chr4:89061129C>T	74			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=ABCG2_HUMAN&rb=1&re=86&var=E7K	NA	getma.org/?cm=var&var=hg19,4,89061129,C,T&fts=all	E7K	--	--	1																																		ABCG2_uc003hrh.2_Missense_Mutation_p.E7K|ABCG2_uc003hri.1_Missense_Mutation_p.E7K|ABCG2_uc003hrj.1_Missense_Mutation_p.E7K|ABCG2_uc003hrk.1_Missense_Mutation_p.E7K	1,1	1		benign(0.001)	p.E7K	NM_004827	NP_004818		tolerated(0.39)	1,1	ABCG2_HUMAN	ABCG2	HGNC	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	F8S0F2_HUMAN		2	512	-		Hepatocellular(203;0.114)	UPI0000001275	7			Cytoplasmic (Potential).		SNV	ABCG2,missense_variant,p.Glu7Lys,ENST00000237612,NM_004827.2;ABCG2,missense_variant,p.Glu7Lys,ENST00000515655,NM_001257386.1;ABCG2,missense_variant,p.Glu45Lys,ENST00000505480,;ABCG2,missense_variant,p.Glu25Lys,ENST00000503830,;	uc003hrg.2	c.19G>A	565/4479	2	2			c.19G>A						4	SNP	c.(19-21)GAA>AAA	44	44			central_nervous_system(1)	1	Broad	ATP-binding cassette, sub-family G, member 2		Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	89061129		0.413	ENSG00000118777	69	g.chr4:89061129C>T	cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity							23.86068	KEEP	8	3	-1	13	16	8	3	-1	25.561413	13	16	0.264706	1	0	0	0	0	1	0	0	0	--	--		0	T			ABCG2_uc003hrh.2_Missense_Mutation_p.E7K|ABCG2_uc003hri.1_Missense_Mutation_p.E7K|ABCG2_uc003hrj.1_Missense_Mutation_p.E7K|ABCG2_uc003hrk.1_Missense_Mutation_p.E7K	170	GBM-19-5950-TP	p.E7K	C	ATAAAAACTTCGACATTACTG	NM_004827	NP_004818	89061129	Q9UNQ0	ABCG2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	2	512	-	T	T		Hepatocellular(203;0.114)	Missense_Mutation	7			Cytoplasmic (Potential).			
ABCG2	0	broad.mit.edu	GRCh37	4	89053763	89053763	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5209-01	TCGA-28-5209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000237612.3:c.228C>T	p.Asn76=	p.N76=	ENST00000237612	NM_004827.2	76	aaC/aaT	0			1			A	N	uc003hrg.2	protein_coding	YES	CCDS3628.1			228/1968									central_nervous_system(1)	1	c.(226-228)AAC>AAT			PROSITE_profiles:PS50893,hmmpanther:PTHR19241:SF198,hmmpanther:PTHR19241,Pfam_domain:PF00005,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	ATP-binding cassette, sub-family G, member 2	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)			ENSP00000237612		16-Mar	1.65E-05					3.00E-05			rs772040991,COSM3409611,COSM3409612	16-Mar	.		ENST00000237612	Transcript	1		cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	ENSG00000118777	g.chr4:89053763G>A	74			LOW								--	--	1																																		ABCG2_uc003hrh.2_Silent_p.N76N|ABCG2_uc003hrf.2_5'Flank|ABCG2_uc003hri.1_Silent_p.N76N|ABCG2_uc003hrj.1_Silent_p.N76N|ABCG2_uc003hrk.1_Silent_p.N76N	0,1,1	1			p.N76N	NM_004827	NP_004818			0,1,1	ABCG2_HUMAN	ABCG2	HGNC	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	F8S0F2_HUMAN		3	721	-		Hepatocellular(203;0.114)	UPI0000001275	76			ABC transporter.|Cytoplasmic (Potential).		SNV	ABCG2,synonymous_variant,p.=,ENST00000237612,NM_004827.2;ABCG2,synonymous_variant,p.=,ENST00000515655,NM_001257386.1;ABCG2,synonymous_variant,p.=,ENST00000505480,;ABCG2,synonymous_variant,p.=,ENST00000503830,;	uc003hrg.2	c.228C>T	774/4479	2	2			c.228C>T						4	SNP	c.(226-228)AAC>AAT	32	32			central_nervous_system(1)	1	Broad	ATP-binding cassette, sub-family G, member 2		Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	89053763		0.393	ENSG00000118777	69	g.chr4:89053763G>A	cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity							283.795308	KEEP	51	60	-1	67	70	51	60	-1	284.172049	67	70	0.454545	1	0	0	0	0	0	0	1	0	--	--		0	A			ABCG2_uc003hrh.2_Silent_p.N76N|ABCG2_uc003hrf.2_5'Flank|ABCG2_uc003hri.1_Silent_p.N76N|ABCG2_uc003hrj.1_Silent_p.N76N|ABCG2_uc003hrk.1_Silent_p.N76N	218	GBM-28-5209-TP	p.N76N	G	CCAGGATGGCGTTGAGACCAG	NM_004827	NP_004818	89053763	Q9UNQ0	ABCG2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	3	721	-	A	A		Hepatocellular(203;0.114)	Silent	76			ABC transporter.|Cytoplasmic (Potential).			
ABCG4	64137	broad.mit.edu	GRCh37	11	119031668	119031668	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0132-01	TCGA-06-0132-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307417.3:c.1793C>T	p.Pro598Leu	p.P598L	ENST00000307417	NM_022169.4	598	cCg/cTg	0		T:0	1	T:0		T	P/L	uc001pvs.2	protein_coding	YES	CCDS8415.1			1793/1941									ovary(2)	2	c.(1792-1794)CCG>CTG			hmmpanther:PTHR19241,hmmpanther:PTHR19241:SF211	ATP-binding cassette, subfamily G, member 4		T:0.001		ENSP00000304111	T:0	15/15	8.24E-06			0.000116					rs571213849,COSM3397459	15/15	.		ENST00000307417	Transcript		T:0.0002	cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	ENSG00000172350	g.chr11:119031668C>T	13884			MODERATE		0.955	low	getma.org/?cm=msa&ty=f&p=ABCG4_HUMAN&rb=386&re=641&var=P598L	NA	getma.org/?cm=var&var=hg19,11,119031668,C,T&fts=all	P598L	--	--	1																																		ABCG4_uc009zar.2_Missense_Mutation_p.P598L	0,1	1		benign(0.001)	p.P598L	NM_022169	NP_071452	T:0	tolerated(0.32)	0,1	ABCG4_HUMAN	ABCG4	HGNC	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	Q9NT30_HUMAN,E9PJ00_HUMAN		15	2129	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	UPI000000D999	598			Extracellular (Potential).|ABC transmembrane type-2.		SNV	ABCG4,missense_variant,p.Pro598Leu,ENST00000307417,NM_022169.4;ABCG4,missense_variant,p.Pro598Leu,ENST00000531739,;ABCG4,missense_variant,p.Pro598Leu,ENST00000449422,NM_001142505.1;ABCG4,downstream_gene_variant,,ENST00000534402,;AP002956.1,upstream_gene_variant,,ENST00000599663,;ABCG4,downstream_gene_variant,,ENST00000533694,;	uc001pvs.2	c.1793C>T	2157/3849	1	1			c.1793C>T						11	SNP	c.(1792-1794)CCG>CTG	1	1			ovary(2)	2	Broad	ATP-binding cassette, subfamily G, member 4			119031668		0.567	ENSG00000172350	70	g.chr11:119031668C>T	cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity							12.0926	KEEP	6	2	-1	18	32	6	2	-1	18.34848	18	32	0.14	1	0	0	0	0	1	0	0	0	--	--		0	T			ABCG4_uc009zar.2_Missense_Mutation_p.P598L	17	GBM-06-0132-TP	p.P598L	C	GAACGCTGCCCGTTCCGGGAG	NM_022169	NP_071452	119031668	Q9H172	ABCG4_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	15	2129	+	T	T	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	Missense_Mutation	598			Extracellular (Potential).|ABC transmembrane type-2.			
ABCG5	64240	broad.mit.edu	GRCh37	2	44065792	44065792	+	synonymous_variant	Silent	SNP	G	G	A	rs72542428		TCGA-06-5418-01	TCGA-06-5418-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260645.1:c.27C>T	p.Pro9=	p.P9=	ENST00000260645	NM_022436.2	9	ccC/ccT	0		A:0	1	A:0.0014		A	P	uc002rtn.2	protein_coding	YES	CCDS1814.1			27/1956									ovary(1)|skin(1)	2	c.(25-27)CCC>CCT				ATP-binding cassette sub-family G member 5		A:0.0089		ENSP00000260645	A:0	13-Jan	0.00102	0.000115	9.12E-05	0.013		3.30E-05	0.00128	0.000922	rs72542428,COSM2153346	13-Jan	common_variant		ENST00000260645	Transcript	1	A:0.0022	cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	ENSG00000138075	g.chr2:44065792G>A	13886			LOW								--	--	1																																		ABCG5_uc002rto.2_5'UTR|ABCG5_uc002rtp.2_5'UTR|ABCG8_uc002rtq.2_5'Flank|ABCG8_uc010yoa.1_5'Flank	0,1	1			p.P9P	NM_022436	NP_071881	A:0.001		0,1	ABCG5_HUMAN	ABCG5	HGNC	Q9H222	ABCG5_HUMAN			Q96QZ3_HUMAN,Q96QZ2_HUMAN,Q53T83_HUMAN,Q53QN9_HUMAN,Q2T9G2_HUMAN		1	167	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	UPI0000046560	9			Cytoplasmic (Potential).		SNV	ABCG5,synonymous_variant,p.=,ENST00000260645,NM_022436.2;ABCG5,5_prime_UTR_variant,,ENST00000543989,;ABCG5,5_prime_UTR_variant,,ENST00000405322,;ABCG8,upstream_gene_variant,,ENST00000272286,NM_022437.2;ABCG5,5_prime_UTR_variant,,ENST00000486512,;ABCG5,5_prime_UTR_variant,,ENST00000409962,;	uc002rtn.2	c.27C>T	167/2740	1	1			c.27C>T						2	SNP	c.(25-27)CCC>CCT	64	64			ovary(1)|skin(1)	2	Broad	ATP-binding cassette sub-family G member 5			44065792		0.637	ENSG00000138075	71	g.chr2:44065792G>A	cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity							50.931976	KEEP	9	11	-1	29	16	9	11	-1	52.517119	29	16	0.321429	1	0	0	0	0	0	0	1	0	--	--		0	A			ABCG5_uc002rto.2_5'UTR|ABCG5_uc002rtp.2_5'UTR|ABCG8_uc002rtq.2_5'Flank|ABCG8_uc010yoa.1_5'Flank	100	GBM-06-5418-TP	p.P9P	G	TGGACCCTCCGGGGGTCAAAG	NM_022436	NP_071881	44065792	Q9H222	ABCG5_HUMAN	0			1	167	-	A	A		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Silent	9			Cytoplasmic (Potential).			
ABCG8	64241	broad.mit.edu	GRCh37	2	44078770	44078770	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs143276716		TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000272286.2:c.370G>A	p.Gly124Ser	p.G124S	ENST00000272286	NM_022437.2	124	Ggc/Agc	0	A:0		1			A	G/S	uc002rtq.2	protein_coding	YES	CCDS1815.1			370/2022									skin(3)|ovary(1)	4	c.(370-372)GGC>AGC			Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_profiles:PS50893,hmmpanther:PTHR19241,Superfamily_domains:SSF52540	ATP-binding cassette sub-family G member 8			A:0.0002	ENSP00000272286		13-Apr	2.47E-05	0.000192	8.64E-05						rs143276716	13-Apr	.		ENST00000272286	Transcript	1		cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	ENSG00000143921	g.chr2:44078770G>A	13887			MODERATE		-0.71	neutral	getma.org/?cm=msa&ty=f&p=ABCG8_HUMAN&rb=112&re=241&var=G124S	getma.org/pdb.php?prot=ABCG8_HUMAN&from=112&to=241&var=G124S	getma.org/?cm=var&var=hg19,2,44078770,G,A&fts=all	G124S	--	--	1																																		ABCG8_uc010yoa.1_Missense_Mutation_p.G124S		1		probably_damaging(0.991)	p.G124S	NM_022437	NP_071882		deleterious(0.01)		ABCG8_HUMAN	ABCG8	HGNC	Q9H221	ABCG8_HUMAN			Q96A01_HUMAN		4	460	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	UPI000004C4CD	124			ABC transporter.|Cytoplasmic (Potential).		SNV	ABCG8,missense_variant,p.Gly124Ser,ENST00000272286,NM_022437.2;	uc002rtq.2	c.370G>A	460/2665	2	2			c.370G>A						2	SNP	c.(370-372)GGC>AGC	35	35			skin(3)|ovary(1)	4	Broad	ATP-binding cassette sub-family G member 8			44078770		0.617	ENSG00000143921	72	g.chr2:44078770G>A	cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity							-0.586622	KEEP	3	1	-1	19	26	3	1	-1	7.341154	19	26	0.071429	1	0	0	0	0	1	0	0	0	--	--		0	A			ABCG8_uc010yoa.1_Missense_Mutation_p.G124S	18	GBM-06-0137-TP	p.G124S	G	CCGAGGTCACGGCGGCAAGAT	NM_022437	NP_071882	44078770	Q9H221	ABCG8_HUMAN	0			4	460	+	A	A		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Missense_Mutation	124			ABC transporter.|Cytoplasmic (Potential).			
ABHD10	55347	broad.mit.edu	GRCh37	3	111697949	111697949	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01	TCGA-06-0173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273359.3:c.41C>T	p.Pro14Leu	p.P14L	ENST00000273359	NM_018394.3	14	cCt/cTt	0			1			T	P/L	uc003dyk.3	protein_coding	YES	CCDS2963.1			41/921										0	c.(40-42)CCT>CTT			hmmpanther:PTHR16138,hmmpanther:PTHR16138:SF7,Cleavage_site_(Signalp):SignalP-noTM,Superfamily_domains:SSF53474	abhydrolase domain containing 10 precursor				ENSP00000273359		5-Jan									COSM2150397	5-Jan	.		ENST00000273359	Transcript				mitochondrion	serine-type peptidase activity	ENSG00000144827	g.chr3:111697949C>T	25656			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=ABHDA_HUMAN&rb=1&re=77&var=P14L	NA	getma.org/?cm=var&var=hg19,3,111697949,C,T&fts=all	P14L	--	--	1																																		ABHD10_uc011bhq.1_5'UTR	1	1		probably_damaging(0.997)	p.P14L	NM_018394	NP_060864		deleterious_low_confidence(0.04)	1	ABHDA_HUMAN	ABHD10	HGNC	Q9NUJ1	ABHDA_HUMAN			B7Z6A8_HUMAN		1	122	+			UPI0000042225	14					SNV	ABHD10,missense_variant,p.Pro14Leu,ENST00000273359,NM_018394.3;ABHD10,missense_variant,p.Pro14Leu,ENST00000494817,NM_001272069.1;ABHD10,5_prime_UTR_variant,,ENST00000534857,;PHLDB2,downstream_gene_variant,,ENST00000431670,NM_001134438.1;PHLDB2,downstream_gene_variant,,ENST00000412622,NM_145753.2;PHLDB2,downstream_gene_variant,,ENST00000393923,NM_001134437.1;PHLDB2,downstream_gene_variant,,ENST00000393925,NM_001134439.1;PHLDB2,downstream_gene_variant,,ENST00000481953,;PHLDB2,downstream_gene_variant,,ENST00000495180,;ABHD10,missense_variant,p.Pro14Leu,ENST00000491580,;ABHD10,missense_variant,p.Pro14Leu,ENST00000493784,;ABHD10,non_coding_transcript_exon_variant,,ENST00000497293,;PHLDB2,downstream_gene_variant,,ENST00000486886,;	uc003dyk.3	c.41C>T	68/2590	2	2			c.41C>T						3	SNP	c.(40-42)CCT>CTT	36	36				0	Broad	abhydrolase domain containing 10 precursor			111697949		0.682	ENSG00000144827	74	g.chr3:111697949C>T		mitochondrion	serine-type peptidase activity							57.647788	KEEP	13	11	-1	12	19	13	11	-1	57.779926	12	19	0.439024	1	0	0	0	0	1	0	0	0	--	--		0	T			ABHD10_uc011bhq.1_5'UTR	36	GBM-06-0173-TP	p.P14L	C	GCCTGGGTACCTTGTCGGAGC	NM_018394	NP_060864	111697949	Q9NUJ1	ABHDA_HUMAN	0			1	122	+	T	T			Missense_Mutation	14						
ABHD17C	0	broad.mit.edu	GRCh37	15	81041941	81041941	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-16-0846-01	TCGA-16-0846-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258884.4:c.678C>T	p.Cys226=	p.C226=	ENST00000258884	NM_021214.1	226	tgC/tgT	0	T:0		1			T	C	uc002bfu.2	protein_coding	YES	CCDS45323.1			678/990										0	c.(676-678)TGC>TGT			hmmpanther:PTHR12277:SF55,hmmpanther:PTHR12277,Pfam_domain:PF12695,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	hypothetical protein LOC58489			T:0.0001	ENSP00000258884		3-Feb	4.96E-05	0.000204				6.00E-05			rs372424183,COSM3401953	3-Feb	.		ENST00000258884	Transcript					hydrolase activity	ENSG00000136379	g.chr15:81041941C>T	26925			LOW								--	--	1																																		FAM108C1_uc002bft.2_Intron	0,1	1			p.C226C	NM_021214	NP_067037			0,1	AB17C_HUMAN	ABHD17C	HGNC	Q6PCB6	F108C_HUMAN			H0YN98_HUMAN		2	797	+			UPI00001612A6	226					SNV	ABHD17C,synonymous_variant,p.=,ENST00000258884,NM_021214.1;ABHD17C,5_prime_UTR_variant,,ENST00000560609,;ABHD17C,intron_variant,,ENST00000558464,;ABHD17C,non_coding_transcript_exon_variant,,ENST00000559506,;ABHD17C,non_coding_transcript_exon_variant,,ENST00000560126,;	uc002bfu.2	c.678C>T	805/2368	1	1			c.678C>T						15	SNP	c.(676-678)TGC>TGT	5	5				0	Broad	hypothetical protein LOC58489			81041941		0.507	ENSG00000136379	5306	g.chr15:81041941C>T			hydrolase activity							-13.878525	KEEP	3	1	-1	58	40	3	1	-1	7.51365	58	40	0.042105	1	0	0	0	0	0	0	1	0	--	--		0	T			FAM108C1_uc002bft.2_Intron	155	GBM-16-0846-TP	p.C226C	C	GGTATGAATGCGCAGCGGTAA	NM_021214	NP_067037	81041941	Q6PCB6	F108C_HUMAN	0			2	797	+	T	T			Silent	226						
ABHD3	171586		GRCh37	18	19283692	19283692	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000289119.2:c.179C>T	p.Thr60Ile	p.T60I	ENST00000289119	NM_138340.4	60	aCc/aTc	0																																																																																																																																																																																																																																												
ABHD8	0	broad.mit.edu	GRCh37	19	17411828	17411828	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01	TCGA-19-5954-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000247706.3:c.598C>T	p.Arg200Cys	p.R200C	ENST00000247706	NM_024527.4	200	Cgc/Tgc	0	T:0	A:0	1	A:0		A	R/C	uc002ngb.3	protein_coding	YES	CCDS12355.1			598/1320										0	c.(598-600)CGC>TGC			Gene3D:3.40.50.1820,Pfam_domain:PF12697,Prints_domain:PR00412,hmmpanther:PTHR10992,hmmpanther:PTHR10992:SF23,Superfamily_domains:SSF53474	abhydrolase domain containing 8		A:0	T:0.0001	ENSP00000247706	A:0	5-Feb	4.12E-05							0.000303	rs371098180,COSM2156757	5-Feb	.		ENST00000247706	Transcript		A:0.0002			hydrolase activity	ENSG00000127220	g.chr19:17411828G>A	23759			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=ABHD8_HUMAN&rb=178&re=411&var=R200C	getma.org/pdb.php?prot=ABHD8_HUMAN&from=178&to=411&var=R200C	getma.org/?cm=var&var=hg19,19,17411828,G,A&fts=all	R200C	--	--	1																																			0,1	1		possibly_damaging(0.849)	p.R200C	NM_024527	NP_078803	A:0.001	deleterious(0.01)	0,1	ABHD8_HUMAN	ABHD8	HGNC	Q96I13	ABHD8_HUMAN			B2C6G3_HUMAN		2	838	-			UPI0000043630	200					SNV	ABHD8,missense_variant,p.Arg200Cys,ENST00000247706,NM_024527.4;MRPL34,intron_variant,,ENST00000595444,;MRPL34,intron_variant,,ENST00000600434,;MRPL34,upstream_gene_variant,,ENST00000252602,NM_023937.3;MRPL34,upstream_gene_variant,,ENST00000602206,;ABHD8,downstream_gene_variant,,ENST00000594194,;ABHD8,downstream_gene_variant,,ENST00000593489,;MRPL34,upstream_gene_variant,,ENST00000594999,;CTD-2278I10.4,upstream_gene_variant,,ENST00000594077,;MRPL34,downstream_gene_variant,,ENST00000597996,;	uc002ngb.3	c.598C>T	838/2090	2	2			c.598C>T						19	SNP	c.(598-600)CGC>TGC	30	30				0	Broad	abhydrolase domain containing 8			17411828		0.642	ENSG00000127220	87	g.chr19:17411828G>A			hydrolase activity	Ovarian(156;1368 2543 15275 41187)			Ovarian(156;1368 2543 15275 41187)			120.033472	KEEP	28	24	-1	46	63	28	24	-1	124.812663	46	63	0.308219	1	0	0	0	0	1	0	0	0	--	--		0	A				174	GBM-19-5954-TP	p.R200C	G	TAGCCTAGGCGCACAAAGAAG	NM_024527	NP_078803	17411828	Q96I13	ABHD8_HUMAN	0			2	838	-	A	A			Missense_Mutation	200						
ABI2	10152	broad.mit.edu	GRCh37	2	204260428	204260428	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5411-01	TCGA-06-5411-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261017.5:c.757C>T	p.Arg253Ter	p.R253*	ENST00000261017	NM_005759.4	253	Cga/Tga	0			1			T	R/*	uc002vaa.2	protein_coding		CCDS63093.1			775/1542										0	c.(775-777)CGA>TGA			Low_complexity_(Seg):seg,hmmpanther:PTHR10460,hmmpanther:PTHR10460:SF3	abl interactor 2				ENSP00000295851		11-Jul									COSM2153155,COSM2153156	11-Jul	.		ENST00000295851	Transcript			actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding	ENSG00000138443	g.chr2:204260428C>T	24011			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,204260428,C,T&fts=all	R99*	--	--	1																																		ABI2_uc010zig.1_RNA|ABI2_uc002uzz.2_Nonsense_Mutation_p.R253*|ABI2_uc010zih.1_Intron|ABI2_uc010zii.1_Nonsense_Mutation_p.R253*|ABI2_uc010zij.1_Nonsense_Mutation_p.R197*|ABI2_uc002vab.2_Nonsense_Mutation_p.R208*|ABI2_uc010zik.1_Nonsense_Mutation_p.R45*|ABI2_uc010zil.1_Nonsense_Mutation_p.R94*|ABI2_uc010zim.1_Nonsense_Mutation_p.R45*|ABI2_uc002vac.2_Nonsense_Mutation_p.R45*|ABI2_uc010zin.1_Intron	1,1				p.R259*	NM_005759	NP_005750			1,1		ABI2	HGNC	Q9NYB9	ABI2_HUMAN			Q53RS4_HUMAN,J3KNB2_HUMAN,E7EP65_HUMAN,B4DG63_HUMAN		7	1010	+			UPI000013D12C	259			Pro-rich.		SNV	ABI2,stop_gained,p.Arg259Ter,ENST00000295851,NM_001282925.1;ABI2,stop_gained,p.Arg253Ter,ENST00000261017,NM_005759.4;ABI2,stop_gained,p.Arg259Ter,ENST00000422511,;ABI2,stop_gained,p.Arg253Ter,ENST00000424558,NM_001282926.1;ABI2,stop_gained,p.Arg45Ter,ENST00000261018,;ABI2,stop_gained,p.Arg208Ter,ENST00000261016,NM_001282927.1;ABI2,stop_gained,p.Arg204Ter,ENST00000430418,;ABI2,stop_gained,p.Arg259Ter,ENST00000417864,;ABI2,stop_gained,p.Arg100Ter,ENST00000454023,;ABI2,stop_gained,p.Arg124Ter,ENST00000451591,;RAPH1,intron_variant,,ENST00000457812,;ABI2,non_coding_transcript_exon_variant,,ENST00000430574,;ABI2,non_coding_transcript_exon_variant,,ENST00000411547,;ABI2,non_coding_transcript_exon_variant,,ENST00000422719,;ABI2,intron_variant,,ENST00000416396,;ABI2,3_prime_UTR_variant,,ENST00000441061,;ABI2,intron_variant,,ENST00000416001,;	uc002vaa.2	c.775C>T	1071/22209	5	2			c.775C>T						2	SNP	c.(775-777)CGA>TGA	35	35				0	Broad	abl interactor 2			204260428		0.478	ENSG00000138443	89	g.chr2:204260428C>T	actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding							106.313083	KEEP	22	23	-1	45	44	22	23	-1	110.032428	45	44	0.31405	1	0	0	0	0	0	1	0	0	--	--		0	T			ABI2_uc010zig.1_RNA|ABI2_uc002uzz.2_Nonsense_Mutation_p.R253*|ABI2_uc010zih.1_Intron|ABI2_uc010zii.1_Nonsense_Mutation_p.R253*|ABI2_uc010zij.1_Nonsense_Mutation_p.R197*|ABI2_uc002vab.2_Nonsense_Mutation_p.R208*|ABI2_uc010zik.1_Nonsense_Mutation_p.R45*|ABI2_uc010zil.1_Nonsense_Mutation_p.R94*|ABI2_uc010zim.1_Nonsense_Mutation_p.R45*|ABI2_uc002vac.2_Nonsense_Mutation_p.R45*|ABI2_uc010zin.1_Intron	94	GBM-06-5411-TP	p.R259*	C	GAGCAGCAGTCGAGAGAACAG	NM_005759	NP_005750	204260428	Q9NYB9	ABI2_HUMAN	0			7	1010	+	T	T			Nonsense_Mutation	259			Pro-rich.			
ABI3	51225	broad.mit.edu	GRCh37	17	47297600	47297600	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-0211-01	TCGA-06-0211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000225941.1:c.714C>A	p.Pro238=	p.P238=	ENST00000225941	NM_016428.2	238	ccC/ccA	0			1			A	P	uc002iop.1	protein_coding	YES	CCDS11546.1			714/1101										0	c.(712-714)CCC>CCA			Low_complexity_(Seg):seg,hmmpanther:PTHR10460:SF6,hmmpanther:PTHR10460	NESH protein isoform 1				ENSP00000225941		8-Jun									COSM2150771	8-Jun	.		ENST00000225941	Transcript			cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding	ENSG00000108798	g.chr17:47297600C>A	29859			LOW								--	--	1				HNSCC(55;0.14)																														ABI3_uc002ioq.1_Silent_p.P232P	1	1			p.P238P	NM_016428	NP_057512			1	ABI3_HUMAN	ABI3	HGNC	Q9P2A4	ABI3_HUMAN	Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)				6	1212	+			UPI000013C888	238			Pro-rich.		SNV	ABI3,synonymous_variant,p.=,ENST00000225941,NM_016428.2,NM_001135186.1;ABI3,synonymous_variant,p.=,ENST00000419580,;ABI3,synonymous_variant,p.=,ENST00000571035,;ABI3,synonymous_variant,p.=,ENST00000573347,;PHOSPHO1,downstream_gene_variant,,ENST00000413580,NM_178500.3,NM_001143804.1;PHOSPHO1,downstream_gene_variant,,ENST00000310544,;PHOSPHO1,downstream_gene_variant,,ENST00000514112,;PHOSPHO1,downstream_gene_variant,,ENST00000511066,;PHOSPHO1,downstream_gene_variant,,ENST00000503902,;PHOSPHO1,downstream_gene_variant,,ENST00000512250,;PHOSPHO1,downstream_gene_variant,,ENST00000574638,;	uc002iop.1	c.714C>A	1212/2109	2	2			c.714C>A						17	SNP	c.(712-714)CCC>CCA	46	46				0	Broad	NESH protein isoform 1			47297600		0.701	ENSG00000108798	90	g.chr17:47297600C>A	cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding							30.148936	KEEP	6	7	0.538461538	10	7	6	7	0.538461538	30.148936	10	7	0.5	1	0	0	0	0	0	0	1	0	--	--	HNSCC(55;0.14)	0	A			ABI3_uc002ioq.1_Silent_p.P232P	48	GBM-06-0211-TP	p.P238P	C	CACCTCTCCCCAGCTCCTTGG	NM_016428	NP_057512	47297600	Q9P2A4	ABI3_HUMAN	0	Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)		6	1212	+	A	A			Silent	238			Pro-rich.			
ABI3	51225		GRCh37	17	47299979	47299979	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000225941.1:c.1003A>G	p.Ile335Val	p.I335V	ENST00000225941	NM_016428.2	335	Atc/Gtc	0																																																																																																																																																																																																																																												
ABI3	51225		GRCh37	17	47297534	47297534	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000225941.1:c.648C>T	p.Ser216=	p.S216=	ENST00000225941	NM_016428.2	216	agC/agT	0																																																																																																																																																																																																																																												
ABI3BP	0	broad.mit.edu	GRCh37	3	100568897	100568897	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2619-01	TCGA-19-2619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284322.5:c.1367C>T	p.Thr456Met	p.T456M	ENST00000284322	NM_015429.3	456	aCg/aTg	0	A:0.0019	A:0.0083	1	A:0		A	T/M	uc003dun.2	protein_coding	YES	CCDS46880.1			1367/3228									ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4	c.(1366-1368)ACG>ATG			Low_complexity_(Seg):seg,Prints_domain:PR01217,hmmpanther:PTHR23197	ABI gene family, member 3 (NESH) binding protein		A:0	A:0.0002	ENSP00000284322	A:0	15/35	0.000273	0.00328	0.000265			8.13E-05			rs199845098,COSM3408067,COSM3408066	15/35	common_variant		ENST00000284322	Transcript		A:0.0022		extracellular space		ENSG00000154175	g.chr3:100568897G>A	17265			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=TARSH_HUMAN&rb=401&re=600&var=T456M	NA	getma.org/?cm=var&var=hg19,3,100568897,G,A&fts=all	T456M	--	--	1																																		ABI3BP_uc003duo.2_Missense_Mutation_p.T498M	0,1,1	1		possibly_damaging(0.791)	p.T456M	NM_015429	NP_056244	A:0	deleterious(0)	0,1,1	TARSH_HUMAN	ABI3BP	HGNC	Q7Z7G0	TARSH_HUMAN					15	1452	-			UPI000011C136	456			Pro-rich.		SNV	ABI3BP,missense_variant,p.Thr505Met,ENST00000471714,;ABI3BP,missense_variant,p.Thr456Met,ENST00000284322,NM_015429.3;ABI3BP,missense_variant,p.Thr505Met,ENST00000495063,;ABI3BP,missense_variant,p.Thr134Met,ENST00000533855,;ABI3BP,missense_variant,p.Thr82Met,ENST00000459682,;ABI3BP,intron_variant,,ENST00000528305,;ABI3BP,upstream_gene_variant,,ENST00000383691,;ABI3BP,upstream_gene_variant,,ENST00000495591,;ABI3BP,upstream_gene_variant,,ENST00000528490,;ABI3BP,upstream_gene_variant,,ENST00000466947,;ABI3BP,upstream_gene_variant,,ENST00000470336,;	uc003dun.2	c.1367C>T	1477/4498	1	1			c.1367C>T						3	SNP	c.(1366-1368)ACG>ATG	52	52			ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4	Broad	ABI gene family, member 3 (NESH) binding protein			100568897		0.378	ENSG00000154175	91	g.chr3:100568897G>A		extracellular space								20.620386	KEEP	3	7	-1	8	8	3	7	-1	21.265128	8	8	0.318182	1	0	0	0	0	1	0	0	0	--	--		0	A			ABI3BP_uc003duo.2_Missense_Mutation_p.T498M	161	GBM-19-2619-TP	p.T456M	G	ACCAGGTGTCGTAGGCTGCAT	NM_015429	NP_056244	100568897	Q7Z7G0	TARSH_HUMAN	0			15	1452	-	A	A			Missense_Mutation	456			Pro-rich.			
ABL1	25	broad.mit.edu	GRCh37	9	133760582	133760582	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5412-01	TCGA-06-5412-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318560.5:c.2905G>A	p.Ala969Thr	p.A969T	ENST00000318560	NM_005157.4	969	Gcc/Acc	0			1			A	A/T	uc004bzw.2	protein_coding		CCDS35166.1			2905/3393	T|Mis		BCR|ETV6|NUP214		CML|ALL|T-ALL				haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817	c.(2905-2907)GCC>ACC			hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF87	c-abl oncogene 1, receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)			ENSP00000323315		11-Nov	8.24E-06	0.000101							rs775585843,COSM3329299,COSM3329298,COSM3329297	11-Nov	.		ENST00000318560	Transcript	1		actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	ENSG00000097007	g.chr9:133760582G>A	76			MODERATE		-0.35	neutral	getma.org/?cm=msa&ty=f&p=ABL1_HUMAN&rb=953&re=1130&var=A969T	NA	getma.org/?cm=var&var=hg19,9,133760582,G,A&fts=all	A969T	--	--	1																																		ABL1_uc004bzv.2_Missense_Mutation_p.A988T	0,1,1,1			benign(0.006)	p.A969T	NM_005157	NP_005148		tolerated_low_confidence(0.36)	0,1,1,1	ABL1_HUMAN	ABL1	HGNC	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)			11	2908	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	UPI000013D6D4	969			F-actin-binding.|Pro-rich.		SNV	ABL1,missense_variant,p.Ala969Thr,ENST00000318560,NM_005157.4;ABL1,missense_variant,p.Ala988Thr,ENST00000372348,NM_007313.2;	uc004bzw.2	c.2905G>A	3286/5766	2	2			c.2905G>A	T|Mis		BCR|ETV6|NUP214		CML|ALL|T-ALL	9	SNP	c.(2905-2907)GCC>ACC	22	22			haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817	Broad	c-abl oncogene 1, receptor tyrosine kinase		Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	133760582		0.667	ENSG00000097007	92	g.chr9:133760582G>A	actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			381			381	-22.855005	KEEP	4	1	-1	59	73	4	1	-1	6.752019	59	73	0.032258	1	0	0	0	0	1	0	0	0	--	--		0	A			ABL1_uc004bzv.2_Missense_Mutation_p.A988T	95	GBM-06-5412-TP	p.A969T	G	GCCACAGTCCGCCAAGCCGTC	NM_005157	NP_005148	133760582	P00519	ABL1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	11	2908	+	A	A		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	Missense_Mutation	969			F-actin-binding.|Pro-rich.			
ABL2	0	broad.mit.edu	GRCh37	1	179077669	179077669	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-1991-01	TCGA-32-1991-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000502732.1:c.2733G>A	p.Pro911=	p.P911=	ENST00000502732	NM_001168237.1	911	ccG/ccA	0		A:0	1	A:0.0014		T	P	uc001gmj.3	protein_coding	YES	CCDS30947.1			2733/3549	T		ETV6		AML				lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14	c.(2731-2733)CCG>CCA			hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF87	arg tyrosine kinase isoform b	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	A:0		ENSP00000427562	A:0	12-Dec	2.47E-05					4.50E-05			rs569106848,COSM3400038,COSM3400036,COSM3400037	12-Dec	.		ENST00000502732	Transcript		A:0.0002	axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	ENSG00000143322	g.chr1:179077669C>T	77			LOW								--	--	1																																		ABL2_uc010pnf.1_Silent_p.P808P|ABL2_uc010png.1_Silent_p.P787P|ABL2_uc010pnh.1_Silent_p.P890P|ABL2_uc001gmg.3_Silent_p.P793P|ABL2_uc001gmi.3_Silent_p.P896P|ABL2_uc001gmh.3_Silent_p.P875P|ABL2_uc010pne.1_Silent_p.P772P	0,1,1,1	1			p.P911P	NM_007314	NP_009298	A:0		0,1,1,1	ABL2_HUMAN	ABL2	HGNC	P42684	ABL2_HUMAN					12	3020	-			UPI0000125140	911			F-actin-binding (By similarity).|Pro-rich.		SNV	ABL2,synonymous_variant,p.=,ENST00000502732,NM_001168237.1,NM_007314.3,NM_001168238.1,NM_001168236.1;ABL2,synonymous_variant,p.=,ENST00000408940,NM_001168239.1;ABL2,synonymous_variant,p.=,ENST00000344730,NM_001136000.2,NM_005158.4;ABL2,synonymous_variant,p.=,ENST00000512653,;ABL2,synonymous_variant,p.=,ENST00000367623,;ABL2,synonymous_variant,p.=,ENST00000511413,;ABL2,synonymous_variant,p.=,ENST00000507173,;ABL2,synonymous_variant,p.=,ENST00000504405,;ABL2,downstream_gene_variant,,ENST00000392043,NM_001136001.1;	uc001gmj.3	c.2733G>A	2937/12144	1	1			c.2733G>A	T		ETV6		AML	1	SNP	c.(2731-2733)CCG>CCA	7	7			lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14	Broad	arg tyrosine kinase isoform b		Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	179077669		0.607	ENSG00000143322	93	g.chr1:179077669C>T	axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			285			285	38.351781	KEEP	6	21	-1	34	29	6	21	-1	42.211082	34	29	0.25	1	0	0	0	0	0	0	1	0	--	--		0	T			ABL2_uc010pnf.1_Silent_p.P808P|ABL2_uc010png.1_Silent_p.P787P|ABL2_uc010pnh.1_Silent_p.P890P|ABL2_uc001gmg.3_Silent_p.P793P|ABL2_uc001gmi.3_Silent_p.P896P|ABL2_uc001gmh.3_Silent_p.P875P|ABL2_uc010pne.1_Silent_p.P772P	234	GBM-32-1991-TP	p.P911P	C	AAGGCCAGCCCGGCTGCTCTC	NM_007314	NP_009298	179077669	P42684	ABL2_HUMAN	0			12	3020	-	T	T			Silent	911			F-actin-binding (By similarity).|Pro-rich.			
ABL2	0	broad.mit.edu	GRCh37	1	179086548	179086548	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01	TCGA-32-2491-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000502732.1:c.1327G>A	p.Ala443Thr	p.A443T	ENST00000502732	NM_001168237.1	443	Gct/Act	0			1			T	A/T	uc001gmj.3	protein_coding	YES	CCDS30947.1			1327/3549	T		ETV6		AML				lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14	c.(1327-1329)GCT>ACT			Gene3D:1.10.510.10,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF87,SMART_domains:SM00219,Superfamily_domains:SSF56112	arg tyrosine kinase isoform b	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)			ENSP00000427562		12-Aug									COSM1195526,COSM3400040,COSM1195524,COSM1195525	12-Aug	.		ENST00000502732	Transcript			axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	ENSG00000143322	g.chr1:179086548C>T	77			MODERATE		-0.65	neutral	getma.org/?cm=msa&ty=f&p=ABL2_HUMAN&rb=288&re=539&var=A443T	getma.org/pdb.php?prot=ABL2_HUMAN&from=288&to=539&var=A443T	getma.org/?cm=var&var=hg19,1,179086548,C,T&fts=all	A443T	--	--	1																																		ABL2_uc010pnf.1_Missense_Mutation_p.A443T|ABL2_uc010png.1_Missense_Mutation_p.A422T|ABL2_uc010pnh.1_Missense_Mutation_p.A422T|ABL2_uc009wxe.2_Missense_Mutation_p.A422T|ABL2_uc001gmg.3_Missense_Mutation_p.A428T|ABL2_uc001gmi.3_Missense_Mutation_p.A428T|ABL2_uc001gmh.3_Missense_Mutation_p.A407T|ABL2_uc010pne.1_Missense_Mutation_p.A407T|ABL2_uc009wxf.1_Missense_Mutation_p.A428T|ABL2_uc001gmk.2_Missense_Mutation_p.A407T	1,1,1,1	1		probably_damaging(0.959)	p.A443T	NM_007314	NP_009298		deleterious(0.03)	1,1,1,1	ABL2_HUMAN	ABL2	HGNC	P42684	ABL2_HUMAN					8	1614	-			UPI0000125140	443			Protein kinase.|Kinase activation loop (By similarity).		SNV	ABL2,missense_variant,p.Ala443Thr,ENST00000502732,NM_001168237.1,NM_007314.3,NM_001168238.1,NM_001168236.1;ABL2,missense_variant,p.Ala407Thr,ENST00000408940,NM_001168239.1;ABL2,missense_variant,p.Ala428Thr,ENST00000344730,NM_001136000.2,NM_005158.4;ABL2,missense_variant,p.Ala428Thr,ENST00000512653,;ABL2,missense_variant,p.Ala422Thr,ENST00000367623,;ABL2,missense_variant,p.Ala443Thr,ENST00000511413,;ABL2,missense_variant,p.Ala422Thr,ENST00000507173,;ABL2,missense_variant,p.Ala407Thr,ENST00000504405,;ABL2,missense_variant,p.Ala422Thr,ENST00000392043,NM_001136001.1;ABL2,non_coding_transcript_exon_variant,,ENST00000504324,;ABL2,non_coding_transcript_exon_variant,,ENST00000509520,;	uc001gmj.3	c.1327G>A	1531/12144	2	2			c.1327G>A	T		ETV6		AML	1	SNP	c.(1327-1329)GCT>ACT	32	32			lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14	Broad	arg tyrosine kinase isoform b		Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	179086548		0.443	ENSG00000143322	93	g.chr1:179086548C>T	axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			285			285	140.386498	KEEP	30	37	-1	91	99	30	37	-1	151.794579	91	99	0.264317	1	0	0	0	0	1	0	0	0	--	--		0	T			ABL2_uc010pnf.1_Missense_Mutation_p.A443T|ABL2_uc010png.1_Missense_Mutation_p.A422T|ABL2_uc010pnh.1_Missense_Mutation_p.A422T|ABL2_uc009wxe.2_Missense_Mutation_p.A422T|ABL2_uc001gmg.3_Missense_Mutation_p.A428T|ABL2_uc001gmi.3_Missense_Mutation_p.A428T|ABL2_uc001gmh.3_Missense_Mutation_p.A407T|ABL2_uc010pne.1_Missense_Mutation_p.A407T|ABL2_uc009wxf.1_Missense_Mutation_p.A428T|ABL2_uc001gmk.2_Missense_Mutation_p.A407T	235	GBM-32-2491-TP	p.A443T	C	TTGGCTCCAGCATGAGCAGTA	NM_007314	NP_009298	179086548	P42684	ABL2_HUMAN	0			8	1614	-	T	T			Missense_Mutation	443			Protein kinase.|Kinase activation loop (By similarity).			
ABLIM2	0	broad.mit.edu	GRCh37	4	8089918	8089918	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-74-6573-01	TCGA-74-6573-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341937.5:c.432G>A	p.Ala144=	p.A144=	ENST00000341937	NM_001130084.1	144	gcG/gcA	0	T:0.0022	T:0.0023	1	T:0		T	A	uc003gko.2	protein_coding		CCDS47013.1			432/1836									pancreas(3)	3	c.(430-432)GCG>GCA			hmmpanther:PTHR24213,hmmpanther:PTHR24213:SF6,Superfamily_domains:SSF57716	actin binding LIM protein family, member 2		T:0.001	T:0	ENSP00000342813	T:0	20-Apr	0.000248	0.00269	0.000186			6.46E-05			rs367620415,COSM3409562,COSM3409564,COSM3409563	20-Apr	common_variant		ENST00000341937	Transcript		T:0.0008	axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding	ENSG00000163995	g.chr4:8089918C>T	19195			LOW								--	--	1																																		ABLIM2_uc003gkj.3_Silent_p.A144A|ABLIM2_uc003gkm.3_Silent_p.A144A|ABLIM2_uc003gkp.2_Silent_p.A144A|ABLIM2_uc003gkq.2_Silent_p.A144A|ABLIM2_uc003gkr.2_Silent_p.A144A|ABLIM2_uc003gks.3_Silent_p.A144A|ABLIM2_uc011bwl.1_Silent_p.A149A	0,1,1,1				p.A144A	NM_001130084	NP_001123556	T:0		0,1,1,1	ABLM2_HUMAN	ABLIM2	HGNC	Q6H8Q1	ABLM2_HUMAN			Q4W5G4_HUMAN		4	575	-			UPI00003B0EBF	144					SNV	ABLIM2,synonymous_variant,p.=,ENST00000296372,;ABLIM2,synonymous_variant,p.=,ENST00000545242,;ABLIM2,synonymous_variant,p.=,ENST00000546334,;ABLIM2,synonymous_variant,p.=,ENST00000361737,NM_001130087.1;ABLIM2,synonymous_variant,p.=,ENST00000447017,NM_001130083.1;ABLIM2,synonymous_variant,p.=,ENST00000341937,NM_001130084.1;ABLIM2,synonymous_variant,p.=,ENST00000428004,NM_001130088.1;ABLIM2,synonymous_variant,p.=,ENST00000361581,NM_001130085.1;ABLIM2,synonymous_variant,p.=,ENST00000407564,NM_032432.4;ABLIM2,synonymous_variant,p.=,ENST00000505872,NM_001130086.1;ABLIM2,5_prime_UTR_variant,,ENST00000318888,;	uc003gko.2	c.432G>A	497/2589	2	2			c.432G>A						4	SNP	c.(430-432)GCG>GCA	17	17			pancreas(3)	3	Broad	actin binding LIM protein family, member 2			8089918		0.632	ENSG00000163995	95	g.chr4:8089918C>T	axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding							26.741275	KEEP	5	5	-1	13	7	5	5	-1	27.140587	13	7	0.37037	1	0	0	0	0	0	0	1	0	--	--		0	T			ABLIM2_uc003gkj.3_Silent_p.A144A|ABLIM2_uc003gkm.3_Silent_p.A144A|ABLIM2_uc003gkp.2_Silent_p.A144A|ABLIM2_uc003gkq.2_Silent_p.A144A|ABLIM2_uc003gkr.2_Silent_p.A144A|ABLIM2_uc003gks.3_Silent_p.A144A|ABLIM2_uc011bwl.1_Silent_p.A149A	260	GBM-74-6573-TP	p.A144A	C	GGGACAGGTGCGCGCTGCTGC	NM_001130084	NP_001123556	8089918	Q6H8Q1	ABLM2_HUMAN	0			4	575	-	T	T			Silent	144						
ABLIM3	22885	broad.mit.edu	GRCh37	5	148620291	148620291	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-06-0648-01	TCGA-06-0648-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000506113.1:c.1257C>G	p.Ser419=	p.S419=	ENST00000506113		419	tcC/tcG	0			1			G	S	uc003lpy.2	protein_coding		CCDS4294.1			1257/2052									ovary(2)|skin(1)	3	c.(1255-1257)TCC>TCG			hmmpanther:PTHR24213,hmmpanther:PTHR24213:SF0	actin binding LIM protein family, member 3				ENSP00000310309		14/24									COSM3409987	14/24	.		ENST00000309868	Transcript			axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	ENSG00000173210	g.chr5:148620291C>G	29132			LOW								--	--	1																																		ABLIM3_uc003lpz.1_Silent_p.S419S|ABLIM3_uc003lqa.1_Intron|ABLIM3_uc003lqb.2_Intron|ABLIM3_uc003lqc.1_Intron|ABLIM3_uc003lqd.1_Intron|ABLIM3_uc003lqf.2_Intron|ABLIM3_uc003lqe.1_Intron	1				p.S419S	NM_014945	NP_055760			1	ABLM3_HUMAN	ABLIM3	HGNC	O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				14	1508	+			UPI0000071FF7	419					SNV	ABLIM3,synonymous_variant,p.=,ENST00000506113,;ABLIM3,synonymous_variant,p.=,ENST00000309868,NM_014945.2;ABLIM3,intron_variant,,ENST00000326685,;ABLIM3,intron_variant,,ENST00000504238,;ABLIM3,intron_variant,,ENST00000508983,;ABLIM3,intron_variant,,ENST00000356541,;ABLIM3,upstream_gene_variant,,ENST00000517451,;AC012613.2,intron_variant,,ENST00000523176,;RP11-331K21.1,intron_variant,,ENST00000512647,;RP11-331K21.1,intron_variant,,ENST00000522685,;ABLIM3,downstream_gene_variant,,ENST00000519549,;ABLIM3,non_coding_transcript_exon_variant,,ENST00000514212,;ABLIM3,intron_variant,,ENST00000515171,;	uc003lpy.2	c.1257C>G	1496/4326	4	4			c.1257C>G						5	SNP	c.(1255-1257)TCC>TCG	17	17			ovary(2)|skin(1)	3	Broad	actin binding LIM protein family, member 3			148620291		0.572	ENSG00000173210	96	g.chr5:148620291C>G	axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding							-33.006859	KEEP	3	3	-1	107	102	3	3	-1	12.603498	107	102	0.031579	1	0	0	0	0	0	0	1	0	--	--		0	G			ABLIM3_uc003lpz.1_Silent_p.S419S|ABLIM3_uc003lqa.1_Intron|ABLIM3_uc003lqb.2_Intron|ABLIM3_uc003lqc.1_Intron|ABLIM3_uc003lqd.1_Intron|ABLIM3_uc003lqf.2_Intron|ABLIM3_uc003lqe.1_Intron	61	GBM-06-0648-TP	p.S419S	C	ATGTGAGGTCCTCCACTCCAA	NM_014945	NP_055760	148620291	O94929	ABLM3_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		14	1508	+	G	G			Silent	419						
ABLIM3	22885		GRCh37	5	148617052	148617052	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000506113.1:c.930G>T	p.Ala310=	p.A310=	ENST00000506113		310	gcG/gcT	0																																																																																																																																																																																																																																												
ABLIM3	22885		GRCh37	5	148619445	148619445	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000506113.1:c.1198C>T	p.Arg400Cys	p.R400C	ENST00000506113		400	Cgc/Tgc	0																																																																																																																																																																																																																																												
ABR	29	broad.mit.edu	GRCh37	17	953842	953842	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01	TCGA-02-0047-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302538.5:c.1594G>A	p.Gly532Ser	p.G532S	ENST00000302538	NM_021962.3	532	Ggc/Agc	0			1			T	G/S	uc002fsd.2	protein_coding	YES	CCDS10999.1			1594/2580									upper_aerodigestive_tract(1)	1	c.(1594-1596)GGC>AGC			PROSITE_profiles:PS50004,hmmpanther:PTHR23182:SF5,hmmpanther:PTHR23182,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	active breakpoint cluster region-related				ENSP00000303909		15/23									COSM2148988,COSM2148989	15/23	.		ENST00000302538	Transcript			apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	ENSG00000159842	g.chr17:953842C>T	81			MODERATE		2.67	medium	getma.org/?cm=msa&ty=f&p=ABR_HUMAN&rb=506&re=594&var=G532S	getma.org/pdb.php?prot=ABR_HUMAN&from=506&to=594&var=G532S	getma.org/?cm=var&var=hg19,17,953842,C,T&fts=all	G532S	--	--	1																																		ABR_uc002fse.2_Missense_Mutation_p.G486S|ABR_uc010vqg.1_Missense_Mutation_p.G314S|ABR_uc002fsg.2_Missense_Mutation_p.G495S|ABR_uc002fsh.1_Intron	1,1	1		probably_damaging(0.951)	p.G532S	NM_021962	NP_068781		tolerated(0.07)	1,1	ABR_HUMAN	ABR	HGNC	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	I3L4Y1_HUMAN,I3L2P5_HUMAN,I3L2L3_HUMAN,I3L259_HUMAN,B7Z2X0_HUMAN		15	1704	-			UPI00001AED3D	532			C2.		SNV	ABR,missense_variant,p.Gly486Ser,ENST00000544583,NM_001159746.2;ABR,missense_variant,p.Gly532Ser,ENST00000302538,NM_021962.3,NM_001282149.1;ABR,missense_variant,p.Gly486Ser,ENST00000574437,;ABR,missense_variant,p.Gly495Ser,ENST00000291107,NM_001092.4;ABR,missense_variant,p.Gly314Ser,ENST00000536794,;ABR,missense_variant,p.Gly174Ser,ENST00000574544,;ABR,non_coding_transcript_exon_variant,,ENST00000575770,;ABR,intron_variant,,ENST00000576964,;ABR,downstream_gene_variant,,ENST00000573895,;ABR,upstream_gene_variant,,ENST00000572152,;ABR,upstream_gene_variant,,ENST00000574257,;ABR,upstream_gene_variant,,ENST00000574875,;	uc002fsd.2	c.1594G>A	1741/5289	2	2			c.1594G>A						17	SNP	c.(1594-1596)GGC>AGC	21	21			upper_aerodigestive_tract(1)	1	Broad	active breakpoint cluster region-related			953842		0.617	ENSG00000159842	99	g.chr17:953842C>T	apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	Esophageal Squamous(197;2016 2115 4129 29033 46447)			Esophageal Squamous(197;2016 2115 4129 29033 46447)			85.458672	KEEP	18	18	-1	49	42	18	18	-1	90.38245	49	42	0.280702	1	0	0	0	0	1	0	0	0	--	--		0	T			ABR_uc002fse.2_Missense_Mutation_p.G486S|ABR_uc010vqg.1_Missense_Mutation_p.G314S|ABR_uc002fsg.2_Missense_Mutation_p.G495S|ABR_uc002fsh.1_Intron	3	GBM-02-0047-TP	p.G532S	C	ACAAAATAGCCGAAGGAATCC	NM_021962	NP_068781	953842	Q12979	ABR_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	15	1704	-	T	T			Missense_Mutation	532			C2.			
ABR	0	broad.mit.edu	GRCh37	17	914060	914060	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-2571-01	TCGA-41-2571-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302538.5:c.2145C>T	p.Asn715=	p.N715=	ENST00000302538	NM_021962.3	715	aaC/aaT	0			1			A	N	uc002fsd.2	protein_coding	YES	CCDS10999.1			2145/2580									upper_aerodigestive_tract(1)	1	c.(2143-2145)AAC>AAT			PROSITE_profiles:PS50238,hmmpanther:PTHR23182:SF5,hmmpanther:PTHR23182,Pfam_domain:PF00620,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350	active breakpoint cluster region-related				ENSP00000303909		20/23	2.47E-05	0.000193	8.64E-05						rs757193320,COSM3403419,COSM3403420	20/23	.		ENST00000302538	Transcript			apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	ENSG00000159842	g.chr17:914060G>A	81			LOW								--	--	1																																		ABR_uc002fse.2_Silent_p.N669N|ABR_uc010vqf.1_Silent_p.N166N|ABR_uc010vqg.1_Silent_p.N497N|ABR_uc002fsg.2_Silent_p.N678N|ABR_uc002fsh.1_Silent_p.N323N|ABR_uc002fsf.2_Silent_p.N252N	0,1,1	1			p.N715N	NM_021962	NP_068781			0,1,1	ABR_HUMAN	ABR	HGNC	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	I3L4Y1_HUMAN,I3L2P5_HUMAN,I3L2L3_HUMAN,I3L259_HUMAN,B7Z2X0_HUMAN		20	2255	-			UPI00001AED3D	715			Rho-GAP.		SNV	ABR,synonymous_variant,p.=,ENST00000544583,NM_001159746.2;ABR,synonymous_variant,p.=,ENST00000302538,NM_021962.3,NM_001282149.1;ABR,synonymous_variant,p.=,ENST00000574437,;ABR,synonymous_variant,p.=,ENST00000291107,NM_001092.4;ABR,synonymous_variant,p.=,ENST00000536794,;ABR,synonymous_variant,p.=,ENST00000543210,NM_001256847.1;ABR,synonymous_variant,p.=,ENST00000571797,;ABR,synonymous_variant,p.=,ENST00000573559,;ABR,intron_variant,,ENST00000572441,;ABR,non_coding_transcript_exon_variant,,ENST00000571383,;ABR,non_coding_transcript_exon_variant,,ENST00000571022,;ABR,non_coding_transcript_exon_variant,,ENST00000571120,;ABR,downstream_gene_variant,,ENST00000577052,;ABR,3_prime_UTR_variant,,ENST00000572152,;ABR,non_coding_transcript_exon_variant,,ENST00000572585,;ABR,upstream_gene_variant,,ENST00000570688,;ABR,upstream_gene_variant,,ENST00000572650,;ABR,downstream_gene_variant,,ENST00000576668,;ABR,downstream_gene_variant,,ENST00000574257,;	uc002fsd.2	c.2145C>T	2292/5289	1	1			c.2145C>T						17	SNP	c.(2143-2145)AAC>AAT	60	60			upper_aerodigestive_tract(1)	1	Broad	active breakpoint cluster region-related			914060		0.637	ENSG00000159842	99	g.chr17:914060G>A	apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	Esophageal Squamous(197;2016 2115 4129 29033 46447)			Esophageal Squamous(197;2016 2115 4129 29033 46447)			104.314589	KEEP	22	22	-1	59	65	22	22	-1	111.911896	59	65	0.266234	1	0	0	0	0	0	0	1	0	--	--		0	A			ABR_uc002fse.2_Silent_p.N669N|ABR_uc010vqf.1_Silent_p.N166N|ABR_uc010vqg.1_Silent_p.N497N|ABR_uc002fsg.2_Silent_p.N678N|ABR_uc002fsh.1_Silent_p.N323N|ABR_uc002fsf.2_Silent_p.N252N	250	GBM-41-2571-TP	p.N715N	G	CGGCGATGGCGTTGATGTCCA	NM_021962	NP_068781	914060	Q12979	ABR_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	20	2255	-	A	A			Silent	715			Rho-GAP.			
ABTB1	80325	broad.mit.edu	GRCh37	3	127396603	127396603	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-2562-01	TCGA-06-2562-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000232744.8:c.946G>T	p.Gly316Cys	p.G316C	ENST00000232744		316	Ggc/Tgc	0			1			T	G/C	uc003ejt.2	protein_coding	YES	CCDS3045.1			946/1437										0	c.(946-948)GGC>TGC			Gene3D:3.30.710.10,Pfam_domain:PF00651,PROSITE_profiles:PS50097,hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF83,SMART_domains:SM00225,Superfamily_domains:SSF54695	ankyrin repeat and BTB (POZ) domain containing 1				ENSP00000232744		12-Oct									COSM2152770	12-Oct	.		ENST00000232744	Transcript				cytoplasm|nucleolus|plasma membrane	translation elongation factor activity	ENSG00000114626	g.chr3:127396603G>T	18275			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=ABTB1_HUMAN&rb=267&re=376&var=G316C	getma.org/pdb.php?prot=ABTB1_HUMAN&from=267&to=376&var=G316C	getma.org/?cm=var&var=hg19,3,127396603,G,T&fts=all	G316C	--	--	1																																		ABTB1_uc003ejr.2_Missense_Mutation_p.G174C|ABTB1_uc003ejs.2_Missense_Mutation_p.G291C|ABTB1_uc003eju.2_Missense_Mutation_p.G174C|ABTB1_uc010hsm.2_Missense_Mutation_p.G43C	1	1		possibly_damaging(0.563)	p.G316C	NM_172027	NP_742024		deleterious(0.03)	1	ABTB1_HUMAN	ABTB1	HGNC	Q969K4	ABTB1_HUMAN					10	1034	+			UPI0000035DA3	316			BTB 2.		SNV	ABTB1,missense_variant,p.Gly174Cys,ENST00000468137,;ABTB1,missense_variant,p.Gly174Cys,ENST00000393363,NM_172027.2;ABTB1,missense_variant,p.Gly316Cys,ENST00000232744,;ABTB1,missense_variant,p.Gly174Cys,ENST00000453791,NM_032548.3;PODXL2,downstream_gene_variant,,ENST00000342480,NM_015720.3;ABTB1,intron_variant,,ENST00000491633,;ABTB1,downstream_gene_variant,,ENST00000466612,;ABTB1,downstream_gene_variant,,ENST00000467179,;ABTB1,missense_variant,p.Gly99Cys,ENST00000497162,;ABTB1,3_prime_UTR_variant,,ENST00000475042,;ABTB1,non_coding_transcript_exon_variant,,ENST00000464431,;ABTB1,non_coding_transcript_exon_variant,,ENST00000478298,;ABTB1,non_coding_transcript_exon_variant,,ENST00000474129,;ABTB1,downstream_gene_variant,,ENST00000475265,;ABTB1,downstream_gene_variant,,ENST00000483857,;ABTB1,downstream_gene_variant,,ENST00000479280,;ABTB1,downstream_gene_variant,,ENST00000493365,;	uc003ejt.2	c.946G>T	1032/1965	2	2			c.946G>T						3	SNP	c.(946-948)GGC>TGC	18	18				0	Broad	ankyrin repeat and BTB (POZ) domain containing 1			127396603		0.642	ENSG00000114626	102	g.chr3:127396603G>T		cytoplasm|nucleolus|plasma membrane	translation elongation factor activity							24.540774	KEEP	6	5	0.545454545	13	12	6	5	0.545454545	25.406431	13	12	0.322581	1	0	0	0	0	1	0	0	0	--	--		0	T			ABTB1_uc003ejr.2_Missense_Mutation_p.G174C|ABTB1_uc003ejs.2_Missense_Mutation_p.G291C|ABTB1_uc003eju.2_Missense_Mutation_p.G174C|ABTB1_uc010hsm.2_Missense_Mutation_p.G43C	85	GBM-06-2562-TP	p.G316C	G	GACCTCAGGGGGCCCCCCAGC	NM_172027	NP_742024	127396603	Q969K4	ABTB1_HUMAN	0			10	1034	+	T	T			Missense_Mutation	316			BTB 2.			
AC010731.4			GRCh37	2	207509344	207509344	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000543490.1:n.559G>A		p.*187*	ENST00000543490				0																																																																																																																																																																																																																																												
AC073869.1	0	broad.mit.edu	GRCh37	2	132120971	132120971	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G			TCGA-06-0190-01	TCGA-06-0190-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000535957.1:n.761T>C		p.*254*	ENST00000535957				0			1			G		uc002tsr.2	processed_pseudogene	YES														0	c.(322-324)ATT>ACT				RAB6C-like						1-Jan										1-Jan	.		ENST00000535957	Transcript			protein transport|small GTPase mediated signal transduction		GTP binding	ENSG00000233087	g.chr2:132120971A>G				MODIFIER		3.055	medium	getma.org/?cm=msa&ty=f&p=Q53S08_HUMAN&rb=15&re=175&var=I108T	getma.org/pdb.php?prot=Q53S08_HUMAN&from=15&to=175&var=I108T	getma.org/?cm=var&var=hg19,2,132120971,A,G&fts=all	I108T	--	--	1																																				1			p.I108T	NM_001077637	NP_001071105					AC073869.1	Clone_based_vega_gene	Q53S08	Q53S08_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.078)			1	761	-				108					SNV	AC073869.1,non_coding_transcript_exon_variant,,ENST00000535957,;AC073869.1,non_coding_transcript_exon_variant,,ENST00000484914,;	uc002tsr.2	c.323T>C	761/3666	3	3			c.323T>C						2	SNP	c.(322-324)ATT>ACT	58	58				0	Broad	RAB6C-like			132120971		0.428	ENSG00000233087	8711	g.chr2:132120971A>G	protein transport|small GTPase mediated signal transduction		GTP binding							-102.470799	KEEP	4	0	-1	280	232	4	0	-1	7.891921	280	232	0.010025	1	0	0	0	0	1	0	0	0	--	--		0	G				43	GBM-06-0190-TP	p.I108T	A	GACATCATCAATCCACTTTGT	NM_001077637	NP_001071105	132120971	Q53S08	Q53S08_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.078)	1	761	-	G	G			Missense_Mutation	108						
AC073869.20			GRCh37	2	132201663	132201663	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000434348.2:n.805A>G		p.*269*	ENST00000434348				0																																																																																																																																																																																																																																												
AC073869.20			GRCh37	2	132201718	132201718	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000434348.2:n.750A>G		p.*250*	ENST00000434348				0																																																																																																																																																																																																																																												
AC092653.5	0	broad.mit.edu	GRCh37	2	73928290	73928290	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T			TCGA-06-2557-01	TCGA-06-2557-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377712.2:n.143G>A		p.*48*	ENST00000377712				0			1			T		uc002sjk.1	unprocessed_pseudogene	YES														0	c.(142-144)GGG>GAG				N-acetyltransferase 8B						1-Jan										1-Jan	.		ENST00000377712	Transcript			gastrulation with mouth forming second	integral to membrane	N-acetyltransferase activity	ENSG00000204872	g.chr2:73928290C>T				MODIFIER		2.485	medium	getma.org/?cm=msa&ty=f&p=NAT8B_HUMAN&rb=1&re=111&var=G48E	NA	getma.org/?cm=var&var=hg19,2,73928290,C,T&fts=all	G48E	0	neutral	1																																				1			p.G48E	NM_016347	NP_057431					AC092653.5	Clone_based_vega_gene	Q9UHF3	NAT8B_HUMAN					2	178	-				48			Helical; (Potential).		SNV	AC092653.5,non_coding_transcript_exon_variant,,ENST00000377712,;	uc002sjk.1	c.143G>A	143/679	2	2			c.143G>A						2	SNP	c.(142-144)GGG>GAG	30	30				0	Broad	N-acetyltransferase 8B			73928290		0.612	ENSG00000204872	9995	g.chr2:73928290C>T	gastrulation with mouth forming second	integral to membrane	N-acetyltransferase activity							82.684311	KEEP	19	15	-1	53	44	19	15	-1	89.3698	53	44	0.254098	1	0	0	0	0	1	0	0	0	0	neutral		0	T				81	GBM-06-2557-TP	p.G48E	C	AAGGGCCCCCCCAAGTAAGAG	NM_016347	NP_057431	73928290	Q9UHF3	NAT8B_HUMAN	0			2	178	-	T	T			Missense_Mutation	48			Helical; (Potential).			
AC097374.2			GRCh37	2	95539132	95539132	+	splice_donor_variant,non_coding_transcript_variant	Splice_Site	SNP	A	A	G			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000568768.1:n.804+2T>C		p.X268_splice	ENST00000568768		268		0																																																																																																																																																																																																																																												
ACAA1	30	broad.mit.edu	GRCh37	3	38175476	38175476	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01	TCGA-06-0214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333167.8:c.290G>A	p.Gly97Glu	p.G97E	ENST00000333167	NM_001607.3	97	gGg/gAg	0			1			T	G/E	uc003cht.2	protein_coding	YES	CCDS2673.1			290/1275									ovary(1)	1	c.(289-291)GGG>GAG			Gene3D:3.40.47.10,Pfam_domain:PF00108,PIRSF_domain:PIRSF000429,hmmpanther:PTHR18919,hmmpanther:PTHR18919:SF64,Superfamily_domains:SSF53901,TIGRFAM_domain:TIGR01930	acetyl-Coenzyme A acyltransferase 1 isoform a				ENSP00000333664		12-Mar									COSM3408630	12-Mar	.		ENST00000333167	Transcript			fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding	ENSG00000060971	g.chr3:38175476C>T	82			MODERATE		2.635	medium	getma.org/?cm=msa&ty=f&p=THIK_HUMAN&rb=35&re=291&var=G97E	getma.org/pdb.php?prot=THIK_HUMAN&from=35&to=291&var=G97E	getma.org/?cm=var&var=hg19,3,38175476,C,T&fts=all	G97E	--	--	1																																		ACAA1_uc003chu.2_Missense_Mutation_p.G97E|ACAA1_uc010hgy.2_Missense_Mutation_p.G97E|ACAA1_uc010hgz.2_Missense_Mutation_p.G97E|ACAA1_uc003chv.2_5'UTR	1	1		probably_damaging(1)	p.G97E	NM_001607	NP_001598		deleterious(0.02)	1	THIK_HUMAN	ACAA1	HGNC	P09110	THIK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)	Q8NCW8_HUMAN		3	497	-			UPI0000136E35	97					SNV	ACAA1,missense_variant,p.Gly97Glu,ENST00000333167,NM_001607.3;ACAA1,missense_variant,p.Gly97Glu,ENST00000450296,;ACAA1,missense_variant,p.Gly97Glu,ENST00000301810,NM_001130410.1;ACAA1,missense_variant,p.Gly97Glu,ENST00000444607,;ACAA1,missense_variant,p.Gly20Glu,ENST00000421218,;ACAA1,5_prime_UTR_variant,,ENST00000544624,;MYD88,upstream_gene_variant,,ENST00000417037,NM_001172567.1;MYD88,upstream_gene_variant,,ENST00000396334,NM_002468.4;MYD88,upstream_gene_variant,,ENST00000421516,;MYD88,upstream_gene_variant,,ENST00000424893,NM_001172568.1;MYD88,upstream_gene_variant,,ENST00000495303,NM_001172566.1;ACAA1,upstream_gene_variant,,ENST00000452171,;MYD88,upstream_gene_variant,,ENST00000443433,NM_001172569.1;ACAA1,upstream_gene_variant,,ENST00000480865,;ACAA1,missense_variant,p.Gly97Glu,ENST00000411549,;ACAA1,missense_variant,p.Gly112Arg,ENST00000440176,;ACAA1,missense_variant,p.Gly112Arg,ENST00000447223,;ACAA1,non_coding_transcript_exon_variant,,ENST00000465181,;ACAA1,non_coding_transcript_exon_variant,,ENST00000484284,;ACAA1,non_coding_transcript_exon_variant,,ENST00000460424,;ACAA1,intron_variant,,ENST00000423611,;ACAA1,intron_variant,,ENST00000418880,;ACAA1,upstream_gene_variant,,ENST00000469559,;MYD88,upstream_gene_variant,,ENST00000416282,;MYD88,upstream_gene_variant,,ENST00000460295,;ACAA1,downstream_gene_variant,,ENST00000489559,;	uc003cht.2	c.290G>A	463/1785	1	1			c.290G>A						3	SNP	c.(289-291)GGG>GAG	13	13			ovary(1)	1	Broad	acetyl-Coenzyme A acyltransferase 1 isoform a			38175476		0.522	ENSG00000060971	104	g.chr3:38175476C>T	fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding							-9.50745	KEEP	3	2	-1	55	56	3	2	-1	10.036665	55	56	0.053763	1	0	0	0	0	1	0	0	0	--	--		0	T			ACAA1_uc003chu.2_Missense_Mutation_p.G97E|ACAA1_uc010hgy.2_Missense_Mutation_p.G97E|ACAA1_uc010hgz.2_Missense_Mutation_p.G97E|ACAA1_uc003chv.2_5'UTR	50	GBM-06-0214-TP	p.G97E	C	CATGATTGCCCCGGCCCCAGG	NM_001607	NP_001598	38175476	P09110	THIK_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)	3	497	-	T	T			Missense_Mutation	97						
ACACA	31	broad.mit.edu	GRCh37	17	35614745	35614745	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01	TCGA-06-2563-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000353139.5:c.1706G>A	p.Arg569His	p.R569H	ENST00000353139	NM_198834.1	569	cGc/cAc	0			1			T	R/H	uc002hnm.2	protein_coding	YES	CCDS42302.1			1706/7152									large_intestine(1)|ovary(1)	2	c.(1594-1596)CGC>CAC			PROSITE_profiles:PS50979,hmmpanther:PTHR18866:SF89,hmmpanther:PTHR18866,Pfam_domain:PF02785,Gene3D:3.30.470.20,SMART_domains:SM00878,Superfamily_domains:SSF51246	acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)			ENSP00000344789		14/56	2.47E-05					3.00E-05		6.06E-05	rs781293486,COSM2152897,COSM2152896	14/56	.		ENST00000353139	Transcript	1		acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	ENSG00000132142	g.chr17:35614745C>T	84			MODERATE		3.895	high	getma.org/?cm=msa&ty=f&p=ACACA_HUMAN&rb=507&re=614&var=R532H	getma.org/pdb.php?prot=ACACA_HUMAN&from=507&to=614&var=R532H	getma.org/?cm=var&var=hg19,17,35614745,C,T&fts=all	R532H	--	--	1																																		ACACA_uc002hnk.2_Missense_Mutation_p.R454H|ACACA_uc002hnl.2_Missense_Mutation_p.R474H|ACACA_uc002hnn.2_Missense_Mutation_p.R532H|ACACA_uc002hno.2_Missense_Mutation_p.R569H|ACACA_uc010cuz.2_Missense_Mutation_p.R532H	0,1,1	1		probably_damaging(0.997)	p.R532H	NM_198836	NP_942133		deleterious(0.01)	0,1,1	ACACA_HUMAN	ACACA	HGNC	Q13085	ACACA_HUMAN			Q7Z5W8_HUMAN,K7EII5_HUMAN,K4DID9_HUMAN,B4DWK9_HUMAN,B4DK31_HUMAN,B4DIW1_HUMAN,B2ZZ90_HUMAN,A8MYL5_HUMAN		14	1786	-		Breast(25;0.00157)|Ovarian(249;0.15)	UPI00002263AC	532			Biotin carboxylation.		SNV	ACACA,missense_variant,p.Arg569His,ENST00000353139,NM_198834.1,NM_198839.1;ACACA,missense_variant,p.Arg474His,ENST00000360679,NM_198837.1;ACACA,missense_variant,p.Arg532His,ENST00000394406,NM_198836.1;ACACA,missense_variant,p.Arg454His,ENST00000335166,NM_198838.1;ACACA,non_coding_transcript_exon_variant,,ENST00000590888,;	uc002hnm.2	c.1595G>A	2188/9962	1	1			c.1595G>A						17	SNP	c.(1594-1596)CGC>CAC	7	7			large_intestine(1)|ovary(1)	2	Broad	acetyl-Coenzyme A carboxylase alpha isoform 2		Biotin(DB00121)	35614745		0.413	ENSG00000132142	106	g.chr17:35614745C>T	acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)		742	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)		742	189.464048	KEEP	24	44	-1	34	35	24	44	-1	189.465883	34	35	0.495935	1	0	0	0	0	1	0	0	0	--	--		0	T			ACACA_uc002hnk.2_Missense_Mutation_p.R454H|ACACA_uc002hnl.2_Missense_Mutation_p.R474H|ACACA_uc002hnn.2_Missense_Mutation_p.R532H|ACACA_uc002hno.2_Missense_Mutation_p.R569H|ACACA_uc010cuz.2_Missense_Mutation_p.R532H	86	GBM-06-2563-TP	p.R532H	C	CTTATTGCTGCGGAAATTTAG	NM_198836	NP_942133	35614745	Q13085	ACACA_HUMAN	0			14	1786	-	T	T		Breast(25;0.00157)|Ovarian(249;0.15)	Missense_Mutation	532			Biotin carboxylation.			
ACACA	31	broad.mit.edu	GRCh37	17	35444255	35444255	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2569-01	TCGA-06-2569-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000353139.5:c.7148C>T	p.Thr2383Met	p.T2383M	ENST00000353139	NM_198834.1	2383	aCg/aTg	0			1			A	T/M	uc002hnm.2	protein_coding	YES	CCDS42302.1			7148/7152									large_intestine(1)|ovary(1)	2	c.(7036-7038)ACG>ATG				acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)			ENSP00000344789		56/56	8.24E-06					1.50E-05			rs762756380,COSM3402806,COSM3402805	56/56	.		ENST00000353139	Transcript	1		acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	ENSG00000132142	g.chr17:35444255G>A	84			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=ACACA_HUMAN&rb=2224&re=2346&var=T2346M	NA	getma.org/?cm=var&var=hg19,17,35444255,G,A&fts=all	T2346M	--	--	1																																		ACACA_uc002hnk.2_Missense_Mutation_p.T2268M|ACACA_uc002hnl.2_Missense_Mutation_p.T2288M|ACACA_uc002hnn.2_Missense_Mutation_p.T2346M|ACACA_uc002hno.2_Missense_Mutation_p.T2383M|ACACA_uc010cuy.2_Missense_Mutation_p.T991M|ACACA_uc010wdb.1_Missense_Mutation_p.T384M|ACACA_uc010wdc.1_Missense_Mutation_p.T472M	0,1,1	1		possibly_damaging(0.618)	p.T2346M	NM_198836	NP_942133		deleterious_low_confidence(0)	0,1,1	ACACA_HUMAN	ACACA	HGNC	Q13085	ACACA_HUMAN			Q7Z5W8_HUMAN,K7EII5_HUMAN,K4DID9_HUMAN,B4DWK9_HUMAN,B4DK31_HUMAN,B4DIW1_HUMAN,B2ZZ90_HUMAN,A8MYL5_HUMAN		56	7228	-		Breast(25;0.00157)|Ovarian(249;0.15)	UPI00002263AC	2346					SNV	ACACA,missense_variant,p.Thr2383Met,ENST00000353139,NM_198834.1,NM_198839.1;ACACA,missense_variant,p.Thr2288Met,ENST00000360679,NM_198837.1;ACACA,missense_variant,p.Thr2346Met,ENST00000394406,NM_198836.1;ACACA,missense_variant,p.Thr2268Met,ENST00000335166,NM_198838.1;ACACA,missense_variant,p.Thr998Met,ENST00000591119,;ACACA,missense_variant,p.Thr472Met,ENST00000361253,;ACACA,missense_variant,p.Thr56Met,ENST00000586821,;ACACA,3_prime_UTR_variant,,ENST00000587233,;ACACA,non_coding_transcript_exon_variant,,ENST00000593055,;	uc002hnm.2	c.7037C>T	7630/9962	2	2			c.7037C>T						17	SNP	c.(7036-7038)ACG>ATG	43	43			large_intestine(1)|ovary(1)	2	Broad	acetyl-Coenzyme A carboxylase alpha isoform 2		Biotin(DB00121)	35444255		0.517	ENSG00000132142	106	g.chr17:35444255G>A	acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)		742	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)		742	155.615354	KEEP	26	29	-1	6	3	26	29	-1	161.972352	6	3	0.842105	1	0	0	0	0	1	0	0	0	--	--		0	A			ACACA_uc002hnk.2_Missense_Mutation_p.T2268M|ACACA_uc002hnl.2_Missense_Mutation_p.T2288M|ACACA_uc002hnn.2_Missense_Mutation_p.T2346M|ACACA_uc002hno.2_Missense_Mutation_p.T2383M|ACACA_uc010cuy.2_Missense_Mutation_p.T991M|ACACA_uc010wdb.1_Missense_Mutation_p.T384M|ACACA_uc010wdc.1_Missense_Mutation_p.T472M	90	GBM-06-2569-TP	p.T2346M	G	CTCTTCCTACGTGGAAGGGGA	NM_198836	NP_942133	35444255	Q13085	ACACA_HUMAN	0			56	7228	-	A	A		Breast(25;0.00157)|Ovarian(249;0.15)	Missense_Mutation	2346						
ACACA	0	broad.mit.edu	GRCh37	17	35564699	35564701	+	inframe_deletion	In_Frame_Del	DEL	GGA	GGA	-			TCGA-19-2629-01	TCGA-19-2629-01	GGA	GGA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000353139.5:c.3721_3723delTCC	p.Ser1241del	p.S1241del	ENST00000353139	NM_198834.1	1241	TCC/-	0			1			-	S/-	uc002hnm.2	protein_coding	YES	CCDS42302.1			3721-3723/7152									large_intestine(1)|ovary(1)	2	c.(3610-3612)TCCdel			hmmpanther:PTHR18866:SF89,hmmpanther:PTHR18866,Pfam_domain:PF08326	acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)			ENSP00000344789		31/56	8.24E-06		8.65E-05						rs764919619	31/56	.		ENST00000353139	Transcript	1		acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	ENSG00000132142	g.chr17:35564699_35564701delGGA	84			MODERATE								--	--	1																																		ACACA_uc002hnk.2_In_Frame_Del_p.S1126del|ACACA_uc002hnl.2_In_Frame_Del_p.S1146del|ACACA_uc002hnn.2_In_Frame_Del_p.S1204del|ACACA_uc002hno.2_In_Frame_Del_p.S1241del|ACACA_uc010cuy.2_5'Flank		1			p.S1204del	NM_198836	NP_942133				ACACA_HUMAN	ACACA	HGNC	Q13085	ACACA_HUMAN			Q7Z5W8_HUMAN,K7EII5_HUMAN,K4DID9_HUMAN,B4DWK9_HUMAN,B4DK31_HUMAN,B4DIW1_HUMAN,B2ZZ90_HUMAN,A8MYL5_HUMAN		31	3801_3803	-		Breast(25;0.00157)|Ovarian(249;0.15)	UPI00002263AC	1204					deletion	ACACA,inframe_deletion,p.Ser1241del,ENST00000353139,NM_198834.1,NM_198839.1;ACACA,inframe_deletion,p.Ser1146del,ENST00000360679,NM_198837.1;ACACA,inframe_deletion,p.Ser1204del,ENST00000394406,NM_198836.1;ACACA,inframe_deletion,p.Ser1126del,ENST00000335166,NM_198838.1;ACACA,upstream_gene_variant,,ENST00000591119,;ACACA,non_coding_transcript_exon_variant,,ENST00000587598,;ACACA,non_coding_transcript_exon_variant,,ENST00000587720,;	uc002hnm.2	c.3610_3612delTCC	4203-4205/9962	5	5			c.3610_3612delTCC						17	DEL	c.(3610-3612)TCCdel	31	31			large_intestine(1)|ovary(1)	2	Broad	acetyl-Coenzyme A carboxylase alpha isoform 2		Biotin(DB00121)	35564701		0.473	ENSG00000132142	106	g.chr17:35564699_35564701delGGA	acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)		742	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)		742														0.06	1	1	0	1	0	0	0	0	0	--	--		0	-			ACACA_uc002hnk.2_In_Frame_Del_p.S1126del|ACACA_uc002hnl.2_In_Frame_Del_p.S1146del|ACACA_uc002hnn.2_In_Frame_Del_p.S1204del|ACACA_uc002hno.2_In_Frame_Del_p.S1241del|ACACA_uc010cuy.2_5'Flank	166	GBM-19-2629-TP	p.S1204del	GGA	GGTTGAGGTTGGAGGAGAAGGAC	NM_198836	NP_942133	35564699	Q13085	ACACA_HUMAN	0			31	3801_3803	-	-	-		Breast(25;0.00157)|Ovarian(249;0.15)	In_Frame_Del	1204						
ACACA	0	broad.mit.edu	GRCh37	17	35633950	35633950	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-19-5955-01	TCGA-19-5955-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000353139.5:c.778T>C	p.Leu260=	p.L260=	ENST00000353139	NM_198834.1	260	Ttg/Ctg	0			1			G	L	uc002hnm.2	protein_coding	YES	CCDS42302.1			778/7152									large_intestine(1)|ovary(1)	2	c.(667-669)TTG>CTG			PROSITE_profiles:PS50979,hmmpanther:PTHR18866:SF89,hmmpanther:PTHR18866,Gene3D:3.40.50.20,Pfam_domain:PF00289,Superfamily_domains:SSF52440	acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)			ENSP00000344789		Jul-56									COSM3402812,COSM3402811	Jul-56	.		ENST00000353139	Transcript	1		acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	ENSG00000132142	g.chr17:35633950A>G	84			LOW								--	--	1																																		ACACA_uc002hnk.2_Silent_p.L145L|ACACA_uc002hnl.2_Silent_p.L165L|ACACA_uc002hnn.2_Silent_p.L223L|ACACA_uc002hno.2_Silent_p.L260L|ACACA_uc010cuz.2_Silent_p.L223L|ACACA_uc002hnq.2_Silent_p.L145L	1,1	1			p.L223L	NM_198836	NP_942133			1,1	ACACA_HUMAN	ACACA	HGNC	Q13085	ACACA_HUMAN			Q7Z5W8_HUMAN,K7EII5_HUMAN,K4DID9_HUMAN,B4DWK9_HUMAN,B4DK31_HUMAN,B4DIW1_HUMAN,B2ZZ90_HUMAN,A8MYL5_HUMAN		7	858	-		Breast(25;0.00157)|Ovarian(249;0.15)	UPI00002263AC	223			Biotin carboxylation.		SNV	ACACA,synonymous_variant,p.=,ENST00000353139,NM_198834.1,NM_198839.1;ACACA,synonymous_variant,p.=,ENST00000360679,NM_198837.1;ACACA,synonymous_variant,p.=,ENST00000394406,NM_198836.1;ACACA,synonymous_variant,p.=,ENST00000335166,NM_198838.1;ACACA,downstream_gene_variant,,ENST00000591148,;ACACA,3_prime_UTR_variant,,ENST00000456066,;ACACA,non_coding_transcript_exon_variant,,ENST00000590888,;	uc002hnm.2	c.667T>C	1260/9962	4	4			c.667T>C						17	SNP	c.(667-669)TTG>CTG	28	28			large_intestine(1)|ovary(1)	2	Broad	acetyl-Coenzyme A carboxylase alpha isoform 2		Biotin(DB00121)	35633950		0.403	ENSG00000132142	106	g.chr17:35633950A>G	acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)		742	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)		742	53.973587	KEEP	9	16	-1	57	64	9	16	-1	65.484236	57	64	0.181818	1	0	0	0	0	0	0	1	0	--	--		0	G			ACACA_uc002hnk.2_Silent_p.L145L|ACACA_uc002hnl.2_Silent_p.L165L|ACACA_uc002hnn.2_Silent_p.L223L|ACACA_uc002hno.2_Silent_p.L260L|ACACA_uc010cuz.2_Silent_p.L223L|ACACA_uc002hnq.2_Silent_p.L145L	175	GBM-19-5955-TP	p.L223L	A	CCATTTTTCAAGAGAAGTTCC	NM_198836	NP_942133	35633950	Q13085	ACACA_HUMAN	0			7	858	-	G	G		Breast(25;0.00157)|Ovarian(249;0.15)	Silent	223			Biotin carboxylation.			
ACACA	0	broad.mit.edu	GRCh37	17	35631152	35631152	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6285-01	TCGA-76-6285-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000353139.5:c.940C>T	p.Arg314Cys	p.R314C	ENST00000353139	NM_198834.1	314	Cgt/Tgt	0			1			A	R/C	uc002hnm.2	protein_coding	YES	CCDS42302.1			940/7152									large_intestine(1)|ovary(1)	2	c.(829-831)CGT>TGT			PROSITE_profiles:PS50979,PROSITE_profiles:PS50975,hmmpanther:PTHR18866:SF89,hmmpanther:PTHR18866,Superfamily_domains:SSF56059	acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)			ENSP00000344789		Sep-56									COSM3402810,COSM3402809	Sep-56	.		ENST00000353139	Transcript	1		acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	ENSG00000132142	g.chr17:35631152G>A	84			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=ACACA_HUMAN&rb=272&re=473&var=R277C	getma.org/pdb.php?prot=ACACA_HUMAN&from=272&to=473&var=R277C	getma.org/?cm=var&var=hg19,17,35631152,G,A&fts=all	R277C	--	--	1																																		ACACA_uc002hnk.2_Missense_Mutation_p.R199C|ACACA_uc002hnl.2_Missense_Mutation_p.R219C|ACACA_uc002hnn.2_Missense_Mutation_p.R277C|ACACA_uc002hno.2_Missense_Mutation_p.R314C|ACACA_uc010cuz.2_Missense_Mutation_p.R277C|ACACA_uc002hnq.2_Missense_Mutation_p.R199C	1,1	1		benign(0.376)	p.R277C	NM_198836	NP_942133		deleterious(0.02)	1,1	ACACA_HUMAN	ACACA	HGNC	Q13085	ACACA_HUMAN			Q7Z5W8_HUMAN,K7EII5_HUMAN,K4DID9_HUMAN,B4DWK9_HUMAN,B4DK31_HUMAN,B4DIW1_HUMAN,B2ZZ90_HUMAN,A8MYL5_HUMAN		9	1020	-		Breast(25;0.00157)|Ovarian(249;0.15)	UPI00002263AC	277			Biotin carboxylation.|ATP-grasp.		SNV	ACACA,missense_variant,p.Arg314Cys,ENST00000353139,NM_198834.1,NM_198839.1;ACACA,missense_variant,p.Arg219Cys,ENST00000360679,NM_198837.1;ACACA,missense_variant,p.Arg277Cys,ENST00000394406,NM_198836.1;ACACA,missense_variant,p.Arg199Cys,ENST00000335166,NM_198838.1;ACACA,downstream_gene_variant,,ENST00000591148,;ACACA,3_prime_UTR_variant,,ENST00000456066,;ACACA,non_coding_transcript_exon_variant,,ENST00000590888,;	uc002hnm.2	c.829C>T	1422/9962	1	1			c.829C>T						17	SNP	c.(829-831)CGT>TGT	63	63			large_intestine(1)|ovary(1)	2	Broad	acetyl-Coenzyme A carboxylase alpha isoform 2		Biotin(DB00121)	35631152		0.408	ENSG00000132142	106	g.chr17:35631152G>A	acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)		742	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)		742	157.219655	KEEP	30	24	-1	7	13	30	24	-1	160.569941	7	13	0.738462	1	0	0	0	0	1	0	0	0	--	--		0	A			ACACA_uc002hnk.2_Missense_Mutation_p.R199C|ACACA_uc002hnl.2_Missense_Mutation_p.R219C|ACACA_uc002hnn.2_Missense_Mutation_p.R277C|ACACA_uc002hno.2_Missense_Mutation_p.R314C|ACACA_uc010cuz.2_Missense_Mutation_p.R277C|ACACA_uc002hnq.2_Missense_Mutation_p.R199C	280	GBM-76-6285-TP	p.R277C	G	TTTAAGATACGTTTTGAAAAA	NM_198836	NP_942133	35631152	Q13085	ACACA_HUMAN	0			9	1020	-	A	A		Breast(25;0.00157)|Ovarian(249;0.15)	Missense_Mutation	277			Biotin carboxylation.|ATP-grasp.			
ACACB	32	broad.mit.edu	GRCh37	12	109680275	109680275	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0214-01	TCGA-06-0214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338432.7:c.5056C>G	p.Pro1686Ala	p.P1686A	ENST00000338432		1686	Ccc/Gcc	0			1			G	P/A	uc001tob.2	protein_coding	YES	CCDS31898.1			5056/7377									ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8	c.(5056-5058)CCC>GCC			Pfam_domain:PF08326,hmmpanther:PTHR18866,hmmpanther:PTHR18866:SF84	acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)			ENSP00000341044		37/53									COSM3398317,COSM3398318	37/53	.		ENST00000338432	Transcript			acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	ENSG00000076555	g.chr12:109680275C>G	85			MODERATE		1.035	low	getma.org/?cm=msa&ty=f&p=ACACB_HUMAN&rb=962&re=1688&var=P1686A	NA	getma.org/?cm=var&var=hg19,12,109680275,C,G&fts=all	P1686A	--	--	1																																		ACACB_uc001toc.2_Missense_Mutation_p.P1686A|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.P352A	1,1	1		benign(0.012)	p.P1686A	NM_001093	NP_001084		tolerated(0.16)	1,1	ACACB_HUMAN	ACACB	HGNC	O00763	ACACB_HUMAN			F5H5C3_HUMAN,E9PEW7_HUMAN		37	5175	+			UPI0000DBEEFB	1686					SNV	ACACB,missense_variant,p.Pro1686Ala,ENST00000338432,;ACACB,missense_variant,p.Pro1686Ala,ENST00000377848,NM_001093.3;ACACB,missense_variant,p.Pro1616Ala,ENST00000377854,;ACACB,missense_variant,p.Pro352Ala,ENST00000543201,;ACACB,missense_variant,p.Pro353Ala,ENST00000538526,;ACACB,non_coding_transcript_exon_variant,,ENST00000537347,;ACACB,non_coding_transcript_exon_variant,,ENST00000534852,;ACACB,upstream_gene_variant,,ENST00000536440,;	uc001tob.2	c.5056C>G	5175/9360	4	4			c.5056C>G						12	SNP	c.(5056-5058)CCC>GCC	25	25			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8	Broad	acetyl-Coenzyme A carboxylase beta		Biotin(DB00121)	109680275		0.522	ENSG00000076555	107	g.chr12:109680275C>G	acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			1843			1843	152.980639	KEEP	27	30	-1	90	79	27	30	-1	162.817748	90	79	0.262887	1	0	0	0	0	1	0	0	0	--	--		0	G			ACACB_uc001toc.2_Missense_Mutation_p.P1686A|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.P352A	50	GBM-06-0214-TP	p.P1686A	C	CAAGCAAGGGCCCCAGCACGG	NM_001093	NP_001084	109680275	O00763	ACACB_HUMAN	0			37	5175	+	G	G			Missense_Mutation	1686						
ACACB	32	broad.mit.edu	GRCh37	12	109696853	109696853	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01	TCGA-06-0219-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338432.7:c.6436C>T	p.Arg2146Trp	p.R2146W	ENST00000338432		2146	Cgg/Tgg	0			1			T	R/W	uc001tob.2	protein_coding	YES	CCDS31898.1			6436/7377									ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8	c.(6436-6438)CGG>TGG			Gene3D:3.90.226.10,Pfam_domain:PF01039,PROSITE_profiles:PS50989,hmmpanther:PTHR18866,hmmpanther:PTHR18866:SF84,Superfamily_domains:SSF52096	acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)			ENSP00000341044		47/53									COSM2150980,COSM2150981	47/53	.		ENST00000338432	Transcript			acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	ENSG00000076555	g.chr12:109696853C>T	85			MODERATE		3.15	medium	getma.org/?cm=msa&ty=f&p=ACACB_HUMAN&rb=1780&re=2334&var=R2146W	getma.org/pdb.php?prot=ACACB_HUMAN&from=1780&to=2334&var=R2146W	getma.org/?cm=var&var=hg19,12,109696853,C,T&fts=all	R2146W	--	--	1																																		ACACB_uc001toc.2_Missense_Mutation_p.R2146W|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.R812W	1,1	1		probably_damaging(0.935)	p.R2146W	NM_001093	NP_001084		deleterious(0)	1,1	ACACB_HUMAN	ACACB	HGNC	O00763	ACACB_HUMAN			F5H5C3_HUMAN,E9PEW7_HUMAN		47	6555	+			UPI0000DBEEFB	2146			Carboxyltransferase.		SNV	ACACB,missense_variant,p.Arg2146Trp,ENST00000338432,;ACACB,missense_variant,p.Arg2146Trp,ENST00000377848,NM_001093.3;ACACB,missense_variant,p.Arg2076Trp,ENST00000377854,;ACACB,missense_variant,p.Arg812Trp,ENST00000543201,;ACACB,missense_variant,p.Arg813Trp,ENST00000538526,;ACACB,upstream_gene_variant,,ENST00000537279,;	uc001tob.2	c.6436C>T	6555/9360	2	2			c.6436C>T						12	SNP	c.(6436-6438)CGG>TGG	18	18			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8	Broad	acetyl-Coenzyme A carboxylase beta		Biotin(DB00121)	109696853		0.572	ENSG00000076555	107	g.chr12:109696853C>T	acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			1843			1843	265.105305	KEEP	49	53	-1	160	159	49	53	-1	284.888536	160	159	0.258667	1	0	0	0	0	1	0	0	0	--	--		0	T			ACACB_uc001toc.2_Missense_Mutation_p.R2146W|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.R812W	52	GBM-06-0219-TP	p.R2146W	C	GGACTTCAACCGGGAGAAGTT	NM_001093	NP_001084	109696853	O00763	ACACB_HUMAN	0			47	6555	+	T	T			Missense_Mutation	2146			Carboxyltransferase.			
ACACB	0	broad.mit.edu	GRCh37	12	109629703	109629703	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338432.7:c.2347G>A	p.Ala783Thr	p.A783T	ENST00000338432		783	Gcc/Acc	0			1			A	A/T	uc001tob.2	protein_coding	YES	CCDS31898.1			2347/7377									ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8	c.(2347-2349)GCC>ACC			hmmpanther:PTHR18866,hmmpanther:PTHR18866:SF84	acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)			ENSP00000341044		15/53									rs539307430,COSM3398314	15/53	.		ENST00000338432	Transcript			acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	ENSG00000076555	g.chr12:109629703G>A	85			MODERATE		2.495	medium	getma.org/?cm=msa&ty=f&p=ACACB_HUMAN&rb=758&re=894&var=A783T	NA	getma.org/?cm=var&var=hg19,12,109629703,G,A&fts=all	A783T	--	--	1																																		ACACB_uc001toc.2_Missense_Mutation_p.A783T	0,1	1		benign(0.049)	p.A783T	NM_001093	NP_001084		deleterious(0.01)	0,1	ACACB_HUMAN	ACACB	HGNC	O00763	ACACB_HUMAN			F5H5C3_HUMAN,E9PEW7_HUMAN		15	2466	+			UPI0000DBEEFB	783					SNV	ACACB,missense_variant,p.Ala783Thr,ENST00000338432,;ACACB,missense_variant,p.Ala783Thr,ENST00000377848,NM_001093.3;ACACB,missense_variant,p.Ala783Thr,ENST00000377854,;ACACB,non_coding_transcript_exon_variant,,ENST00000544651,;	uc001tob.2	c.2347G>A	2466/9360	1	1			c.2347G>A						12	SNP	c.(2347-2349)GCC>ACC	52	52			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8	Broad	acetyl-Coenzyme A carboxylase beta		Biotin(DB00121)	109629703		0.532	ENSG00000076555	107	g.chr12:109629703G>A	acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			1843			1843	-12.28055	KEEP	5	1	-1	53	49	5	1	-1	7.98838	53	49	0.043956	1	0	0	0	0	1	0	0	0	--	--		0	A			ACACB_uc001toc.2_Missense_Mutation_p.A783T	131	GBM-12-5301-TP	p.A783T	G	CTTGAACGTGGCCGATGCGAT	NM_001093	NP_001084	109629703	O00763	ACACB_HUMAN	0			15	2466	+	A	A			Missense_Mutation	783						
ACACB	0	broad.mit.edu	GRCh37	12	109639415	109639415	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01	TCGA-16-1045-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338432.7:c.2822G>A	p.Arg941Gln	p.R941Q	ENST00000338432		941	cGg/cAg	0			1			A	R/Q	uc001tob.2	protein_coding	YES	CCDS31898.1			2822/7377									ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8	c.(2821-2823)CGG>CAG			Gene3D:2.40.50.100,Pfam_domain:PF00364,PROSITE_profiles:PS50968,hmmpanther:PTHR18866,hmmpanther:PTHR18866:SF84,Superfamily_domains:SSF51230	acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)			ENSP00000341044		19/53	1.65E-05							0.000121	rs747291562,COSM3398315	19/53	.		ENST00000338432	Transcript			acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	ENSG00000076555	g.chr12:109639415G>A	85			MODERATE		1.23	low	getma.org/?cm=msa&ty=f&p=ACACB_HUMAN&rb=895&re=961&var=R941Q	getma.org/pdb.php?prot=ACACB_HUMAN&from=895&to=961&var=R941Q	getma.org/?cm=var&var=hg19,12,109639415,G,A&fts=all	R941Q	--	--	1																																		ACACB_uc001toc.2_Missense_Mutation_p.R941Q	0,1	1		benign(0.009)	p.R941Q	NM_001093	NP_001084		tolerated(0.34)	0,1	ACACB_HUMAN	ACACB	HGNC	O00763	ACACB_HUMAN			F5H5C3_HUMAN,E9PEW7_HUMAN		19	2941	+			UPI0000DBEEFB	941			Biotinyl-binding.		SNV	ACACB,missense_variant,p.Arg941Gln,ENST00000338432,;ACACB,missense_variant,p.Arg941Gln,ENST00000377848,NM_001093.3;ACACB,missense_variant,p.Arg941Gln,ENST00000377854,;	uc001tob.2	c.2822G>A	2941/9360	1	1			c.2822G>A						12	SNP	c.(2821-2823)CGG>CAG	55	55			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8	Broad	acetyl-Coenzyme A carboxylase beta		Biotin(DB00121)	109639415		0.542	ENSG00000076555	107	g.chr12:109639415G>A	acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			1843			1843	-57.783357	KEEP	3	2	-1	124	131	3	2	-1	6.661065	124	131	0.016393	1	0	0	0	0	1	0	0	0	--	--		0	A			ACACB_uc001toc.2_Missense_Mutation_p.R941Q	157	GBM-16-1045-TP	p.R941Q	G	GAAAGAGGCCGGGTGAAGTAC	NM_001093	NP_001084	109639415	O00763	ACACB_HUMAN	0			19	2941	+	A	A			Missense_Mutation	941			Biotinyl-binding.			
ACACB	0	broad.mit.edu	GRCh37	12	109693958	109693958	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-4068-01	TCGA-19-4068-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338432.7:c.6180G>A	p.Thr2060=	p.T2060=	ENST00000338432		2060	acG/acA	0			1			A	T	uc001tob.2	protein_coding	YES	CCDS31898.1			6180/7377									ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8	c.(6178-6180)ACG>ACA			Gene3D:3.90.226.10,Pfam_domain:PF01039,PROSITE_profiles:PS50989,hmmpanther:PTHR18866,hmmpanther:PTHR18866:SF84,Superfamily_domains:SSF52096	acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)			ENSP00000341044		45/53	2.47E-05					3.02E-05		6.08E-05	rs748417042,COSM2156499,COSM2156500	45/53	.		ENST00000338432	Transcript			acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	ENSG00000076555	g.chr12:109693958G>A	85			LOW								--	--	1																																		ACACB_uc001toc.2_Silent_p.T2060T|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Silent_p.T726T	0,1,1	1			p.T2060T	NM_001093	NP_001084			0,1,1	ACACB_HUMAN	ACACB	HGNC	O00763	ACACB_HUMAN			F5H5C3_HUMAN,E9PEW7_HUMAN		45	6299	+			UPI0000DBEEFB	2060			Carboxyltransferase.		SNV	ACACB,synonymous_variant,p.=,ENST00000338432,;ACACB,synonymous_variant,p.=,ENST00000377848,NM_001093.3;ACACB,synonymous_variant,p.=,ENST00000377854,;ACACB,synonymous_variant,p.=,ENST00000543201,;ACACB,synonymous_variant,p.=,ENST00000538526,;ACACB,downstream_gene_variant,,ENST00000396233,;ACACB,downstream_gene_variant,,ENST00000536440,;	uc001tob.2	c.6180G>A	6299/9360	2	2			c.6180G>A						12	SNP	c.(6178-6180)ACG>ACA	43	43			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8	Broad	acetyl-Coenzyme A carboxylase beta		Biotin(DB00121)	109693958		0.602	ENSG00000076555	107	g.chr12:109693958G>A	acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			1843			1843	120.379453	KEEP	29	21	-1	35	43	29	21	-1	121.417528	35	43	0.392157	1	0	0	0	0	0	0	1	0	--	--		0	A			ACACB_uc001toc.2_Silent_p.T2060T|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Silent_p.T726T	168	GBM-19-4068-TP	p.T2060T	G	TGAAGGGAACGTGGCAGAGCG	NM_001093	NP_001084	109693958	O00763	ACACB_HUMAN	0			45	6299	+	A	A			Silent	2060			Carboxyltransferase.			
ACACB	0	broad.mit.edu	GRCh37	12	109609642	109609642	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2638-01	TCGA-32-2638-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338432.7:c.958G>A	p.Val320Ile	p.V320I	ENST00000338432		320	Gtc/Atc	0		A:0.0008	1	A:0		A	V/I	uc001tob.2	protein_coding	YES	CCDS31898.1			958/7377									ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8	c.(958-960)GTC>ATC			Gene3D:3.40.50.20,Pfam_domain:PF00289,PROSITE_profiles:PS50979,hmmpanther:PTHR18866,hmmpanther:PTHR18866:SF84,Low_complexity_(Seg):seg,Superfamily_domains:SSF52440	acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)	A:0.001		ENSP00000341044	A:0	May-53	0.000107	9.62E-05		0.000578		0.000105			rs189283811,COSM1946166	May-53	common_variant		ENST00000338432	Transcript		A:0.0004	acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	ENSG00000076555	g.chr12:109609642G>A	85			MODERATE		1.31	low	getma.org/?cm=msa&ty=f&p=ACACB_HUMAN&rb=259&re=379&var=V320I	getma.org/pdb.php?prot=ACACB_HUMAN&from=259&to=379&var=V320I	getma.org/?cm=var&var=hg19,12,109609642,G,A&fts=all	V320I	--	--	1																																		ACACB_uc001toc.2_Missense_Mutation_p.V320I	0,1	1		probably_damaging(0.993)	p.V320I	NM_001093	NP_001084	A:0	deleterious(0.02)	0,1	ACACB_HUMAN	ACACB	HGNC	O00763	ACACB_HUMAN			F5H5C3_HUMAN,E9PEW7_HUMAN		5	1077	+			UPI0000DBEEFB	320			Biotin carboxylation.		SNV	ACACB,missense_variant,p.Val320Ile,ENST00000338432,;ACACB,missense_variant,p.Val320Ile,ENST00000377848,NM_001093.3;ACACB,missense_variant,p.Val320Ile,ENST00000377854,;ACACB,missense_variant,p.Val118Ile,ENST00000544726,;ACACB,upstream_gene_variant,,ENST00000543080,;ACACB,downstream_gene_variant,,ENST00000546328,;	uc001tob.2	c.958G>A	1077/9360	2	2			c.958G>A						12	SNP	c.(958-960)GTC>ATC	22	22			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8	Broad	acetyl-Coenzyme A carboxylase beta		Biotin(DB00121)	109609642		0.502	ENSG00000076555	107	g.chr12:109609642G>A	acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			1843			1843	9.807672	KEEP	5	3	-1	35	22	5	3	-1	17.724957	35	22	0.122807	1	0	0	0	0	1	0	0	0	--	--		0	A			ACACB_uc001toc.2_Missense_Mutation_p.V320I	242	GBM-32-2638-TP	p.V320I	G	TTACGTCCCCGTCCCAGGAGG	NM_001093	NP_001084	109609642	O00763	ACACB_HUMAN	0			5	1077	+	A	A			Missense_Mutation	320			Biotin carboxylation.			
ACACB	32		GRCh37	12	109687832	109687832	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000338432.7:c.5713G>A	p.Val1905Met	p.V1905M	ENST00000338432		1905	Gtg/Atg	0																																																																																																																																																																																																																																												
ACAD10	80724	broad.mit.edu	GRCh37	12	112182642	112182642	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0219-01	TCGA-06-0219-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000455480.2:c.2003G>C	p.Ser668Thr	p.S668T	ENST00000455480	NM_001136538.1	668	aGc/aCc	0			1			C	S/T	uc001tsq.2	protein_coding		CCDS31903.1			1910/3180									ovary(2)	2	c.(1909-1911)AGC>ACC			hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF221	acyl-Coenzyme A dehydrogenase family, member 10				ENSP00000325137		13/21									COSM2150990	13/21	.		ENST00000313698	Transcript					acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	ENSG00000111271	g.chr12:112182642G>C	21597			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=ACD10_HUMAN&rb=529&re=659&var=S637T	NA	getma.org/?cm=var&var=hg19,12,112182642,G,C&fts=all	S637T	--	--	1																																		ACAD10_uc001tsp.2_Missense_Mutation_p.S637T|ACAD10_uc009zvx.2_Missense_Mutation_p.S668T|ACAD10_uc001tss.1_RNA	1			benign(0.003)	p.S637T	NM_025247	NP_079523		tolerated(0.35)	1	ACD10_HUMAN	ACAD10	HGNC	Q6JQN1	ACD10_HUMAN			F8VXK4_HUMAN,D6RFF6_HUMAN		13	2110	+			UPI000013C8E1	637					SNV	ACAD10,missense_variant,p.Ser668Thr,ENST00000455480,NM_001136538.1;ACAD10,missense_variant,p.Ser637Thr,ENST00000313698,NM_025247.5;ACAD10,missense_variant,p.Ser637Thr,ENST00000549590,;ACAD10,missense_variant,p.Ser239Thr,ENST00000392636,;ACAD10,missense_variant,p.Ser242Thr,ENST00000507683,;ACAD10,missense_variant,p.Ser30Thr,ENST00000515283,;ACAD10,non_coding_transcript_exon_variant,,ENST00000413681,;ACAD10,non_coding_transcript_exon_variant,,ENST00000508303,;ACAD10,upstream_gene_variant,,ENST00000550198,;ACAD10,upstream_gene_variant,,ENST00000505487,;ACAD10,upstream_gene_variant,,ENST00000507688,;ACAD10,non_coding_transcript_exon_variant,,ENST00000504803,;ACAD10,non_coding_transcript_exon_variant,,ENST00000552177,;ACAD10,non_coding_transcript_exon_variant,,ENST00000546647,;ACAD10,upstream_gene_variant,,ENST00000547491,;	uc001tsq.2	c.1910G>C	2065/3959	3	3			c.1910G>C						12	SNP	c.(1909-1911)AGC>ACC	55	55			ovary(2)	2	Broad	acyl-Coenzyme A dehydrogenase family, member 10			112182642		0.562	ENSG00000111271	108	g.chr12:112182642G>C			acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups							133.802645	KEEP	27	18	-1	42	41	27	18	-1	135.646062	42	41	0.365217	1	0	0	0	0	1	0	0	0	--	--		0	C			ACAD10_uc001tsp.2_Missense_Mutation_p.S637T|ACAD10_uc009zvx.2_Missense_Mutation_p.S668T|ACAD10_uc001tss.1_RNA	52	GBM-06-0219-TP	p.S637T	G	AGGAGTTATAGCTCCGTTCCA	NM_025247	NP_079523	112182642	Q6JQN1	ACD10_HUMAN	0			13	2110	+	C	C			Missense_Mutation	637						
ACAD11	0	broad.mit.edu	GRCh37	3	132360955	132360955	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-28-5209-01	TCGA-28-5209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264990.6:c.398C>G	p.Thr133Arg	p.T133R	ENST00000264990	NM_032169.4	133	aCa/aGa	0			1			C	T/R	uc003eov.3	protein_coding	YES	CCDS3074.1			398/2343									ovary(1)	1	c.(397-399)ACA>AGA			Gene3D:3.90.1200.10,Pfam_domain:PF01636,Superfamily_domains:SSF56112	putative acyl-CoA dehydrogenase				ENSP00000264990		20-Apr									COSM3408244	20-Apr	.		ENST00000264990	Transcript				peroxisome	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups	ENSG00000240303	g.chr3:132360955G>C	30211			MODERATE		-0.06	neutral	getma.org/?cm=msa&ty=f&p=ACD11_HUMAN&rb=45&re=283&var=T133R	getma.org/pdb.php?prot=ACD11_HUMAN&from=45&to=283&var=T133R	getma.org/?cm=var&var=hg19,3,132360955,G,C&fts=all	T133R	--	--	1																																		ACAD11_uc003eoy.2_Missense_Mutation_p.T133R	1	1		benign(0.012)	p.T133R	NM_032169	NP_115545		tolerated(0.23)	1	ACD11_HUMAN	ACAD11	HGNC	Q709F0	ACD11_HUMAN			Q08AE9_HUMAN,B4DQ41_HUMAN		4	778	-			UPI00003671B7	133					SNV	ACAD11,missense_variant,p.Thr133Arg,ENST00000264990,NM_032169.4;ACAD11,missense_variant,p.Thr133Arg,ENST00000355458,;ACAD11,missense_variant,p.Thr133Arg,ENST00000481970,;ACAD11,5_prime_UTR_variant,,ENST00000545291,;ACAD11,intron_variant,,ENST00000489991,;ACAD11,missense_variant,p.Thr133Arg,ENST00000485198,;NPHP3,3_prime_UTR_variant,,ENST00000471702,;ACAD11,non_coding_transcript_exon_variant,,ENST00000496418,;ACAD11,non_coding_transcript_exon_variant,,ENST00000469042,;HSPA8P19,upstream_gene_variant,,ENST00000505359,;	uc003eov.3	c.398C>G	1370/4142	3	3			c.398C>G						3	SNP	c.(397-399)ACA>AGA	15	15			ovary(1)	1	Broad	putative acyl-CoA dehydrogenase			132360955		0.378	ENSG00000240303	109	g.chr3:132360955G>C		peroxisome	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups							259.591515	KEEP	49	40	-1	71	78	49	40	-1	263.514293	71	78	0.354067	1	0	0	0	0	1	0	0	0	--	--		0	C			ACAD11_uc003eoy.2_Missense_Mutation_p.T133R	218	GBM-28-5209-TP	p.T133R	G	TCCAGGAATTGTTAAATCACG	NM_032169	NP_115545	132360955	Q709F0	ACD11_HUMAN	0			4	778	-	C	C			Missense_Mutation	133						
ACAD11	84129		GRCh37	3	132361623	132361623	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000264990.6:c.273G>T	p.Gln91His	p.Q91H	ENST00000264990	NM_032169.4	91	caG/caT	0																																																																																																																																																																																																																																												
ACADL	0	broad.mit.edu	GRCh37	2	211070506	211070506	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-27-1836-01	TCGA-27-1836-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000233710.3:c.618T>C	p.Asn206=	p.N206=	ENST00000233710	NM_001608.3	206	aaT/aaC	0			1			G	N	uc002vdz.3	protein_coding	YES	CCDS2389.1			618/1293										0	c.(616-618)AAT>AAC			hmmpanther:PTHR10909:SF196,hmmpanther:PTHR10909,Pfam_domain:PF02770,Gene3D:2.40.110.10,Superfamily_domains:SSF56645	long-chain acyl-CoA dehydrogenase precursor				ENSP00000233710		11-Jun									COSM3407532	11-Jun	.		ENST00000233710	Transcript	1		carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity	ENSG00000115361	g.chr2:211070506A>G	88			LOW								--	--	1																																			1	1			p.N206N	NM_001608	NP_001599			1	ACADL_HUMAN	ACADL	HGNC	P28330	ACADL_HUMAN		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)	B4DJN8_HUMAN		6	846	-		Renal(323;0.202)	UPI0000074739	206					SNV	ACADL,synonymous_variant,p.=,ENST00000233710,NM_001608.3;AC006994.2,intron_variant,,ENST00000412065,;ACADL,downstream_gene_variant,,ENST00000482502,;	uc002vdz.3	c.618T>C	846/2543	4	4			c.618T>C						2	SNP	c.(616-618)AAT>AAC	22	22				0	Broad	long-chain acyl-CoA dehydrogenase precursor			211070506		0.388	ENSG00000115361	112	g.chr2:211070506A>G	carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity							208.885518	KEEP	36	40	-1	69	81	36	40	-1	212.971856	69	81	0.348259	1	0	0	0	0	0	0	1	0	--	--		0	G				195	GBM-27-1836-TP	p.N206N	A	TTAATGACCCATTACTGATGA	NM_001608	NP_001599	211070506	P28330	ACADL_HUMAN	0		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)	6	846	-	G	G		Renal(323;0.202)	Silent	206						
ACADS	35	broad.mit.edu	GRCh37	12	121176680	121176680	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0033-01	TCGA-02-0033-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000242592.4:c.991G>A	p.Ala331Thr	p.A331T	ENST00000242592	NM_000017.2	331	Gct/Act	0			1			A	A/T	uc001tza.3	protein_coding	YES	CCDS9207.1			991/1239									central_nervous_system(2)	2	c.(991-993)GCT>ACT			hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF10,Pfam_domain:PF00441,Gene3D:1.20.140.10,PIRSF_domain:PIRSF016578,Superfamily_domains:SSF47203	short-chain acyl-CoA dehydrogenase precursor	NADH(DB00157)			ENSP00000242592		10-Aug									COSM3398440	10-Aug	.		ENST00000242592	Transcript	1			mitochondrial matrix	butyryl-CoA dehydrogenase activity	ENSG00000122971	g.chr12:121176680G>A	90			MODERATE		2.52	medium	getma.org/?cm=msa&ty=f&p=ACADS_HUMAN&rb=258&re=407&var=A331T	getma.org/pdb.php?prot=ACADS_HUMAN&from=258&to=407&var=A331T	getma.org/?cm=var&var=hg19,12,121176680,G,A&fts=all	A331T	--	--	1																																		ACADS_uc010szl.1_Missense_Mutation_p.A327T|ACADS_uc001tzb.3_Missense_Mutation_p.A212T	1	1		probably_damaging(1)	p.A331T	NM_000017	NP_000008		deleterious(0)	1	ACADS_HUMAN	ACADS	HGNC	P16219	ACADS_HUMAN			E5KSD5_HUMAN		8	1109	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)	UPI000004A863	331					SNV	ACADS,missense_variant,p.Ala331Thr,ENST00000242592,NM_000017.2;ACADS,missense_variant,p.Ala327Thr,ENST00000411593,;RP11-173P15.7,downstream_gene_variant,,ENST00000542620,;ACADS,downstream_gene_variant,,ENST00000539690,;	uc001tza.3	c.991G>A	1142/1950	2	2			c.991G>A						12	SNP	c.(991-993)GCT>ACT	21	21			central_nervous_system(2)	2	Broad	short-chain acyl-CoA dehydrogenase precursor		NADH(DB00157)	121176680		0.637	ENSG00000122971	114	g.chr12:121176680G>A		mitochondrial matrix	butyryl-CoA dehydrogenase activity							40.983373	KEEP	11	19	-1	65	84	11	19	-1	57.222533	65	84	0.161074	1	0	0	0	0	1	0	0	0	--	--		0	A			ACADS_uc010szl.1_Missense_Mutation_p.A327T|ACADS_uc001tzb.3_Missense_Mutation_p.A212T	2	GBM-02-0033-TP	p.A331T	G	GACCTGGCGCGCTGCCATGCT	NM_000017	NP_000008	121176680	P16219	ACADS_HUMAN	0			8	1109	+	A	A	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)	Missense_Mutation	331						
ACADS	35	broad.mit.edu	GRCh37	12	121176678	121176678	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0188-01	TCGA-06-0188-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000242592.4:c.989G>A	p.Arg330His	p.R330H	ENST00000242592	NM_000017.2	330	cGc/cAc	0		A:0	1	A:0		A	R/H	uc001tza.3	protein_coding	YES	CCDS9207.1			989/1239									central_nervous_system(2)	2	c.(988-990)CGC>CAC			hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF10,Pfam_domain:PF00441,Gene3D:1.20.140.10,PIRSF_domain:PIRSF016578,Superfamily_domains:SSF47203	short-chain acyl-CoA dehydrogenase precursor	NADH(DB00157)	A:0		ENSP00000242592	A:0.001	10-Aug									rs199633532,COSM467904	10-Aug	.		ENST00000242592	Transcript	1	A:0.0002		mitochondrial matrix	butyryl-CoA dehydrogenase activity	ENSG00000122971	g.chr12:121176678G>A	90			MODERATE		1.035	low	getma.org/?cm=msa&ty=f&p=ACADS_HUMAN&rb=258&re=407&var=R330H	getma.org/pdb.php?prot=ACADS_HUMAN&from=258&to=407&var=R330H	getma.org/?cm=var&var=hg19,12,121176678,G,A&fts=all	R330H	--	--	1																																		ACADS_uc010szl.1_Missense_Mutation_p.R326H|ACADS_uc001tzb.3_Missense_Mutation_p.R211H	0,1	1		probably_damaging(0.984)	p.R330H	NM_000017	NP_000008	A:0	deleterious(0.03)	0,1	ACADS_HUMAN	ACADS	HGNC	P16219	ACADS_HUMAN			E5KSD5_HUMAN		8	1107	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)	UPI000004A863	330					SNV	ACADS,missense_variant,p.Arg330His,ENST00000242592,NM_000017.2;ACADS,missense_variant,p.Arg326His,ENST00000411593,;RP11-173P15.7,downstream_gene_variant,,ENST00000542620,;ACADS,downstream_gene_variant,,ENST00000539690,;	uc001tza.3	c.989G>A	1140/1950	2	2			c.989G>A						12	SNP	c.(988-990)CGC>CAC	26	26			central_nervous_system(2)	2	Broad	short-chain acyl-CoA dehydrogenase precursor		NADH(DB00157)	121176678		0.642	ENSG00000122971	114	g.chr12:121176678G>A		mitochondrial matrix	butyryl-CoA dehydrogenase activity							82.12717	KEEP	14	24	-1	40	47	14	24	-1	86.506073	40	47	0.292035	1	0	0	0	0	1	0	0	0	--	--		0	A			ACADS_uc010szl.1_Missense_Mutation_p.R326H|ACADS_uc001tzb.3_Missense_Mutation_p.R211H	41	GBM-06-0188-TP	p.R330H	G	CTGACCTGGCGCGCTGCCATG	NM_000017	NP_000008	121176678	P16219	ACADS_HUMAN	0			8	1107	+	A	A	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)	Missense_Mutation	330						
ACADS	0	broad.mit.edu	GRCh37	12	121176677	121176677	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140853839	byFrequency	TCGA-32-4209-01	TCGA-32-4209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000242592.4:c.988C>T	p.Arg330Cys	p.R330C	ENST00000242592	NM_000017.2	330	Cgc/Tgc	0	T:0.0014	T:0	1	T:0		T	R/C	uc001tza.3	protein_coding	YES	CCDS9207.1			988/1239									central_nervous_system(2)	2	c.(988-990)CGC>TGC			hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF10,Pfam_domain:PF00441,Gene3D:1.20.140.10,PIRSF_domain:PIRSF016578,Superfamily_domains:SSF47203	short-chain acyl-CoA dehydrogenase precursor	NADH(DB00157)	T:0	T:0	ENSP00000242592	T:0	10-Aug									rs140853839,COSM935963	10-Aug	.		ENST00000242592	Transcript	1	T:0.0002		mitochondrial matrix	butyryl-CoA dehydrogenase activity	ENSG00000122971	g.chr12:121176677C>T	90			MODERATE		3.96	high	getma.org/?cm=msa&ty=f&p=ACADS_HUMAN&rb=258&re=407&var=R330C	getma.org/pdb.php?prot=ACADS_HUMAN&from=258&to=407&var=R330C	getma.org/?cm=var&var=hg19,12,121176677,C,T&fts=all	R330C	--	--	1																																		ACADS_uc010szl.1_Missense_Mutation_p.R326C|ACADS_uc001tzb.3_Missense_Mutation_p.R211C	0,1	1		probably_damaging(0.993)	p.R330C	NM_000017	NP_000008	T:0.001	deleterious(0)	0,1	ACADS_HUMAN	ACADS	HGNC	P16219	ACADS_HUMAN			E5KSD5_HUMAN		8	1106	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)	UPI000004A863	330					SNV	ACADS,missense_variant,p.Arg330Cys,ENST00000242592,NM_000017.2;ACADS,missense_variant,p.Arg326Cys,ENST00000411593,;RP11-173P15.7,downstream_gene_variant,,ENST00000542620,;ACADS,downstream_gene_variant,,ENST00000539690,;	uc001tza.3	c.988C>T	1139/1950	2	2			c.988C>T						12	SNP	c.(988-990)CGC>TGC	46	46			central_nervous_system(2)	2	Broad	short-chain acyl-CoA dehydrogenase precursor		NADH(DB00157)	121176677		0.637	ENSG00000122971	114	g.chr12:121176677C>T		mitochondrial matrix	butyryl-CoA dehydrogenase activity							172.663495	KEEP	38	41	-1	91	132	38	41	-1	185.306581	91	132	0.268199	1	0	0	0	0	1	0	0	0	--	--		0	T			ACADS_uc010szl.1_Missense_Mutation_p.R326C|ACADS_uc001tzb.3_Missense_Mutation_p.R211C	244	GBM-32-4209-TP	p.R330C	C	GCTGACCTGGCGCGCTGCCAT	NM_000017	NP_000008	121176677	P16219	ACADS_HUMAN	0			8	1106	+	T	T	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)	Missense_Mutation	330						
ACADS	0	broad.mit.edu	GRCh37	12	121164991	121164991	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-6193-01	TCGA-76-6193-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000242592.4:c.209A>G	p.Gln70Arg	p.Q70R	ENST00000242592	NM_000017.2	70	cAg/cGg	0			1			G	Q/R	uc001tza.3	protein_coding	YES	CCDS9207.1			209/1239									central_nervous_system(2)	2	c.(208-210)CAG>CGG			hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF10,Gene3D:1.10.540.10,Pfam_domain:PF02771,PIRSF_domain:PIRSF016578,Superfamily_domains:SSF56645	short-chain acyl-CoA dehydrogenase precursor	NADH(DB00157)			ENSP00000242592		10-Feb									COSM3398439	10-Feb	.		ENST00000242592	Transcript	1			mitochondrial matrix	butyryl-CoA dehydrogenase activity	ENSG00000122971	g.chr12:121164991A>G	90			MODERATE		2.865	medium	getma.org/?cm=msa&ty=f&p=ACADS_HUMAN&rb=35&re=147&var=Q70R	getma.org/pdb.php?prot=ACADS_HUMAN&from=35&to=147&var=Q70R	getma.org/?cm=var&var=hg19,12,121164991,A,G&fts=all	Q70R	--	--	1																																		ACADS_uc010szl.1_Missense_Mutation_p.Q70R	1	1		benign(0.053)	p.Q70R	NM_000017	NP_000008		tolerated(0.3)	1	ACADS_HUMAN	ACADS	HGNC	P16219	ACADS_HUMAN			E5KSD5_HUMAN		2	327	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)	UPI000004A863	70					SNV	ACADS,missense_variant,p.Gln70Arg,ENST00000242592,NM_000017.2;ACADS,missense_variant,p.Gln70Arg,ENST00000411593,;UNC119B,downstream_gene_variant,,ENST00000344651,NM_001080533.2;MIR4700,downstream_gene_variant,,ENST00000578311,;RP11-173P15.5,upstream_gene_variant,,ENST00000544939,;ACADS,splice_region_variant,,ENST00000539690,;	uc001tza.3	c.209A>G	360/1950	3	3			c.209A>G						12	SNP	c.(208-210)CAG>CGG	16	16			central_nervous_system(2)	2	Broad	short-chain acyl-CoA dehydrogenase precursor		NADH(DB00157)	121164991		0.567	ENSG00000122971	114	g.chr12:121164991A>G		mitochondrial matrix	butyryl-CoA dehydrogenase activity							-20.672596	KEEP	1	2	-1	41	79	1	2	-1	6.457241	41	79	0.027273	1	0	0	0	0	1	0	0	0	--	--		0	G			ACADS_uc010szl.1_Missense_Mutation_p.Q70R	276	GBM-76-6193-TP	p.Q70R	A	CCAGCGGCTCAGGTGAGAGTG	NM_000017	NP_000008	121164991	P16219	ACADS_HUMAN	0			2	327	+	G	G	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)	Missense_Mutation	70						
ACADSB	0	broad.mit.edu	GRCh37	10	124813243	124813243	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-6701-01	TCGA-06-6701-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358776.4:c.1261T>C	p.Leu421=	p.L421=	ENST00000358776	NM_001609.3	421	Ttg/Ctg	0			1			C	L	uc001lhb.2	protein_coding	YES	CCDS7634.1			1261/1299									upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	c.(1261-1263)TTG>CTG			hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF212,Gene3D:1.20.140.10,Pfam_domain:PF00441,PIRSF_domain:PIRSF016578,Superfamily_domains:SSF47203	acyl-Coenzyme A dehydrogenase, short/branched	L-Isoleucine(DB00167)			ENSP00000357873		11-Nov									COSM3396968	11-Nov	.		ENST00000358776	Transcript	1		branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding	ENSG00000196177	g.chr10:124813243T>C	91			LOW								--	--	1																																		ACADSB_uc010qub.1_Silent_p.L319L	1	1			p.L421L	NM_001609	NP_001600			1	ACDSB_HUMAN	ACADSB	HGNC	P45954	ACDSB_HUMAN		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	B4DQ51_HUMAN		11	1378	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	UPI00001251DF	421					SNV	ACADSB,synonymous_variant,p.=,ENST00000358776,NM_001609.3;ACADSB,synonymous_variant,p.=,ENST00000368869,;ACADSB,non_coding_transcript_exon_variant,,ENST00000541070,;	uc001lhb.2	c.1261T>C	1275/5859	4	4			c.1261T>C						10	SNP	c.(1261-1263)TTG>CTG	34	34			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Broad	acyl-Coenzyme A dehydrogenase, short/branched		L-Isoleucine(DB00167)	124813243		0.393	ENSG00000196177	115	g.chr10:124813243T>C	branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding							151.381801	KEEP	29	21	-1	36	43	29	21	-1	152.505672	36	43	0.392857	1	0	0	0	0	0	0	1	0	--	--		0	C			ACADSB_uc010qub.1_Silent_p.L319L	115	GBM-06-6701-TP	p.L421L	T	CAACATCCAGTTGAACACCAT	NM_001609	NP_001600	124813243	P45954	ACDSB_HUMAN	0		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	11	1378	+	C	C		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	Silent	421						
ACADVL	0	broad.mit.edu	GRCh37	17	7125285	7125285	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs140629318		TCGA-27-2521-01	TCGA-27-2521-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356839.5:c.637G>A	p.Ala213Thr	p.A213T	ENST00000356839	NM_001270448.1	213	Gct/Act	0	C:0.0002		1			A	A/T	uc002gev.2	protein_coding		CCDS11090.1			637/1968						uncertain_significance,pathogenic			ovary(3)	3	c.(637-639)GCT>ACT			Superfamily_domains:SSF56645,Gene3D:2.40.110.10,Pfam_domain:PF02770,hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF121	acyl-Coenzyme A dehydrogenase, very long chain			C:0	ENSP00000349297		20-Aug	2.47E-05		8.65E-05			1.50E-05		6.06E-05	rs140629318,COSM3403177	20-Aug	.		ENST00000356839	Transcript	1		energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity	ENSG00000072778	g.chr17:7125285G>A	92			MODERATE		2.95	medium	getma.org/?cm=msa&ty=f&p=ACADV_HUMAN&rb=213&re=267&var=A213T	getma.org/pdb.php?prot=ACADV_HUMAN&from=213&to=267&var=A213T	getma.org/?cm=var&var=hg19,17,7125285,G,A&fts=all	A213T	--	--	1																																		DLG4_uc002get.3_5'Flank|DLG4_uc010vto.1_5'Flank|ACADVL_uc010vtp.1_Missense_Mutation_p.A223T|ACADVL_uc010vtq.1_Missense_Mutation_p.A259T|ACADVL_uc002gew.2_Missense_Mutation_p.A191T|ACADVL_uc002gex.2_Missense_Mutation_p.A137T	1,1			probably_damaging(0.997)	p.A213T	NM_000018	NP_000009		deleterious(0)	0,1	ACADV_HUMAN	ACADVL	HGNC	P49748	ACADV_HUMAN			B3KPA6_HUMAN		8	788	+			UPI00001251EF	213		A -> P (in ACADVLD).	Catalytic.		SNV	ACADVL,missense_variant,p.Ala213Thr,ENST00000356839,NM_001270448.1,NM_000018.3;ACADVL,missense_variant,p.Ala236Thr,ENST00000543245,NM_001270447.1;ACADVL,missense_variant,p.Ala191Thr,ENST00000350303,NM_001033859.2;ACADVL,missense_variant,p.Ala218Thr,ENST00000583312,;DLG4,upstream_gene_variant,,ENST00000399510,NM_001365.3;DLG4,upstream_gene_variant,,ENST00000399506,;DLG4,upstream_gene_variant,,ENST00000302955,NM_001128827.1;DVL2,downstream_gene_variant,,ENST00000005340,NM_004422.2;DVL2,downstream_gene_variant,,ENST00000575458,;ACADVL,upstream_gene_variant,,ENST00000542255,;DLG4,upstream_gene_variant,,ENST00000485100,;DVL2,downstream_gene_variant,,ENST00000575086,;DLG4,upstream_gene_variant,,ENST00000447163,;ACADVL,upstream_gene_variant,,ENST00000579546,;ACADVL,downstream_gene_variant,,ENST00000584103,;ACADVL,downstream_gene_variant,,ENST00000579886,;MIR324,downstream_gene_variant,,ENST00000362183,;ACADVL,non_coding_transcript_exon_variant,,ENST00000581562,;ACADVL,non_coding_transcript_exon_variant,,ENST00000577857,;ACADVL,upstream_gene_variant,,ENST00000583074,;ACADVL,3_prime_UTR_variant,,ENST00000322910,;ACADVL,3_prime_UTR_variant,,ENST00000581378,;ACADVL,non_coding_transcript_exon_variant,,ENST00000577191,;ACADVL,non_coding_transcript_exon_variant,,ENST00000579286,;ACADVL,non_coding_transcript_exon_variant,,ENST00000582379,;ACADVL,non_coding_transcript_exon_variant,,ENST00000583760,;ACADVL,non_coding_transcript_exon_variant,,ENST00000580365,;ACADVL,upstream_gene_variant,,ENST00000578711,;ACADVL,upstream_gene_variant,,ENST00000579425,;ACADVL,upstream_gene_variant,,ENST00000583858,;ACADVL,upstream_gene_variant,,ENST00000585203,;DVL2,downstream_gene_variant,,ENST00000576840,;ACADVL,upstream_gene_variant,,ENST00000583850,;ACADVL,downstream_gene_variant,,ENST00000577433,;ACADVL,downstream_gene_variant,,ENST00000582056,;ACADVL,downstream_gene_variant,,ENST00000578269,;ACADVL,upstream_gene_variant,,ENST00000578824,;ACADVL,upstream_gene_variant,,ENST00000578319,;ACADVL,upstream_gene_variant,,ENST00000578809,;ACADVL,downstream_gene_variant,,ENST00000582356,;ACADVL,upstream_gene_variant,,ENST00000578033,;ACADVL,downstream_gene_variant,,ENST00000582166,;ACADVL,downstream_gene_variant,,ENST00000578421,;ACADVL,downstream_gene_variant,,ENST00000580263,;ACADVL,upstream_gene_variant,,ENST00000583848,;ACADVL,upstream_gene_variant,,ENST00000578579,;ACADVL,upstream_gene_variant,,ENST00000579894,;ACADVL,upstream_gene_variant,,ENST00000579391,;ACADVL,upstream_gene_variant,,ENST00000582450,;	uc002gev.2	c.637G>A	816/2323	2	2			c.637G>A						17	SNP	c.(637-639)GCT>ACT	22	22			ovary(3)	3	Broad	acyl-Coenzyme A dehydrogenase, very long chain			7125285		0.572	ENSG00000072778	116	g.chr17:7125285G>A	energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity							46.757986	KEEP	12	11	-1	34	41	12	11	-1	52.575608	34	41	0.229885	1	0	0	0	0	1	0	0	0	--	--		0	A			DLG4_uc002get.3_5'Flank|DLG4_uc010vto.1_5'Flank|ACADVL_uc010vtp.1_Missense_Mutation_p.A223T|ACADVL_uc010vtq.1_Missense_Mutation_p.A259T|ACADVL_uc002gew.2_Missense_Mutation_p.A191T|ACADVL_uc002gex.2_Missense_Mutation_p.A137T	200	GBM-27-2521-TP	p.A213T	G	GACTGTGGCCGCTTTCTGTCT	NM_000018	NP_000009	7125285	P49748	ACADV_HUMAN	0			8	788	+	A	A			Missense_Mutation	213		A -> P (in ACADVLD).	Catalytic.			
ACAN	0	broad.mit.edu	GRCh37	15	89395102	89395102	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01	TCGA-14-0790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000439576.2:c.2104G>A	p.Val702Met	p.V702M	ENST00000439576	NM_013227.3	702	Gtg/Atg	0	A:0		1			A	V/M	uc010upo.1	protein_coding	YES	CCDS53970.1			2104/7593									ovary(2)|central_nervous_system(1)	3	c.(2104-2106)GTG>ATG			hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF42,Low_complexity_(Seg):seg,Superfamily_domains:SSF56436	aggrecan isoform 2 precursor			A:0.0001	ENSP00000387356		18-Nov	1.65E-05					3.94E-05			rs370096577,COSM3401991,COSM3401992	18-Nov	.		ENST00000439576	Transcript	1		cell adhesion		hyaluronic acid binding|sugar binding	ENSG00000157766	g.chr15:89395102G>A	319			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=PGCA_HUMAN&rb=674&re=873&var=V701M	NA	getma.org/?cm=var&var=hg19,15,89395102,G,A&fts=all	V701M	--	--	1																																		ACAN_uc010upp.1_Missense_Mutation_p.V702M|ACAN_uc002bna.2_RNA	0,1,1	1		unknown(0)	p.V702M	NM_013227	NP_037359		deleterious(0.04)	0,1,1		ACAN	HGNC	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		Q6LE94_HUMAN,E7EX88_HUMAN		11	2478	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		UPI0001B23381	702					SNV	ACAN,missense_variant,p.Val702Met,ENST00000439576,NM_013227.3;ACAN,missense_variant,p.Val702Met,ENST00000559004,;ACAN,missense_variant,p.Val702Met,ENST00000561243,;ACAN,missense_variant,p.Val702Met,ENST00000352105,NM_001135.3;ACAN,downstream_gene_variant,,ENST00000558207,;	uc010upo.1	c.2104G>A	2478/8840	1	1			c.2104G>A						15	SNP	c.(2104-2106)GTG>ATG	59	59			ovary(2)|central_nervous_system(1)	3	Broad	aggrecan isoform 2 precursor			89395102		0.567	ENSG00000157766	117	g.chr15:89395102G>A	cell adhesion		hyaluronic acid binding|sugar binding							32.720465	KEEP	7	6	-1	9	10	7	6	-1	32.854726	9	10	0.423077	1	0	0	0	0	1	0	0	0	--	--		0	A			ACAN_uc010upp.1_Missense_Mutation_p.V702M|ACAN_uc002bna.2_RNA	137	GBM-14-0790-TP	p.V702M	G	GGAGTGGATCGTGACCCAAGT	NM_013227	NP_037359	89395102	E7EX88	E7EX88_HUMAN	0	BRCA - Breast invasive adenocarcinoma(143;0.146)		11	2478	+	A	A	Lung NSC(78;0.0392)|all_lung(78;0.077)		Missense_Mutation	702						
ACAN	0	broad.mit.edu	GRCh37	15	89391161	89391161	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs143697605	by1000genomes	TCGA-14-0817-01	TCGA-14-0817-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000439576.2:c.1624C>T	p.Arg542Trp	p.R542W	ENST00000439576	NM_013227.3	542	Cgg/Tgg	0		T:0.0008	1	T:0		T	R/W	uc010upo.1	protein_coding	YES	CCDS53970.1			1624/7593									ovary(2)|central_nervous_system(1)	3	c.(1624-1626)CGG>TGG			Gene3D:3.10.100.10,Pfam_domain:PF00193,PROSITE_patterns:PS01241,PROSITE_profiles:PS50963,hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF42,SMART_domains:SM00445,Superfamily_domains:SSF56436	aggrecan isoform 2 precursor		T:0		ENSP00000387356	T:0	18-Sep	3.31E-05	0.000102				3.00E-05		6.07E-05	rs143697605,COSM197690,COSM3370297	18-Sep	.		ENST00000439576	Transcript	1	T:0.0002	cell adhesion		hyaluronic acid binding|sugar binding	ENSG00000157766	g.chr15:89391161C>T	319			MODERATE		3.94	high	getma.org/?cm=msa&ty=f&p=PGCA_HUMAN&rb=477&re=572&var=R542W	getma.org/pdb.php?prot=PGCA_HUMAN&from=477&to=572&var=R542W	getma.org/?cm=var&var=hg19,15,89391161,C,T&fts=all	R542W	--	--	1																																		ACAN_uc002bmx.2_Missense_Mutation_p.R542W|ACAN_uc010upp.1_Missense_Mutation_p.R542W|ACAN_uc002bna.2_RNA	0,1,1	1		unknown(0)	p.R542W	NM_013227	NP_037359	T:0	deleterious(0)	0,1,1		ACAN	HGNC	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		Q6LE94_HUMAN,E7EX88_HUMAN		9	1998	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		UPI0001B23381	542					SNV	ACAN,missense_variant,p.Arg542Trp,ENST00000439576,NM_013227.3;ACAN,missense_variant,p.Arg542Trp,ENST00000559004,;ACAN,missense_variant,p.Arg542Trp,ENST00000561243,;ACAN,missense_variant,p.Arg542Trp,ENST00000352105,NM_001135.3;ACAN,missense_variant,p.Arg542Trp,ENST00000558207,;	uc010upo.1	c.1624C>T	1998/8840	1	1			c.1624C>T						15	SNP	c.(1624-1626)CGG>TGG	1	1			ovary(2)|central_nervous_system(1)	3	Broad	aggrecan isoform 2 precursor			89391161		0.607	ENSG00000157766	117	g.chr15:89391161C>T	cell adhesion		hyaluronic acid binding|sugar binding							73.630638	KEEP	13	17	-1	38	33	13	17	-1	77.434378	38	33	0.292929	1	0	0	0	0	1	0	0	0	--	--		0	T			ACAN_uc002bmx.2_Missense_Mutation_p.R542W|ACAN_uc010upp.1_Missense_Mutation_p.R542W|ACAN_uc002bna.2_RNA	139	GBM-14-0817-TP	p.R542W	C	TGTGAGCCCCCGGACCCCATG	NM_013227	NP_037359	89391161	E7EX88	E7EX88_HUMAN	0	BRCA - Breast invasive adenocarcinoma(143;0.146)		9	1998	+	T	T	Lung NSC(78;0.0392)|all_lung(78;0.077)		Missense_Mutation	542						
ACAN	0	broad.mit.edu	GRCh37	15	89386832	89386832	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01	TCGA-19-5950-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000439576.2:c.1004C>T	p.Thr335Met	p.T335M	ENST00000439576	NM_013227.3	335	aCg/aTg	0	T:0.0002		1			T	T/M	uc010upo.1	protein_coding	YES	CCDS53970.1			1004/7593									ovary(2)|central_nervous_system(1)	3	c.(1003-1005)ACG>ATG			Gene3D:3.10.100.10,Pfam_domain:PF00193,PROSITE_profiles:PS50963,hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF42,SMART_domains:SM00445,Superfamily_domains:SSF56436	aggrecan isoform 2 precursor			T:0.0001	ENSP00000387356		18-Jun	2.48E-05				0.000152	1.57E-05		6.78E-05	rs370865297,COSM2014691,COSM2014690	18-Jun	.		ENST00000439576	Transcript	1		cell adhesion		hyaluronic acid binding|sugar binding	ENSG00000157766	g.chr15:89386832C>T	319			MODERATE		3.265	medium	getma.org/?cm=msa&ty=f&p=PGCA_HUMAN&rb=253&re=349&var=T335M	getma.org/pdb.php?prot=PGCA_HUMAN&from=253&to=349&var=T335M	getma.org/?cm=var&var=hg19,15,89386832,C,T&fts=all	T335M	--	--	1																																		ACAN_uc002bmx.2_Missense_Mutation_p.T335M|ACAN_uc010upp.1_Missense_Mutation_p.T335M|ACAN_uc002bna.2_RNA	0,1,1	1		unknown(0)	p.T335M	NM_013227	NP_037359		deleterious(0)	0,1,1		ACAN	HGNC	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		Q6LE94_HUMAN,E7EX88_HUMAN		6	1378	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		UPI0001B23381	335					SNV	ACAN,missense_variant,p.Thr335Met,ENST00000439576,NM_013227.3;ACAN,missense_variant,p.Thr335Met,ENST00000559004,;ACAN,missense_variant,p.Thr335Met,ENST00000561243,;ACAN,missense_variant,p.Thr335Met,ENST00000352105,NM_001135.3;ACAN,missense_variant,p.Thr335Met,ENST00000558207,;	uc010upo.1	c.1004C>T	1378/8840	2	2			c.1004C>T						15	SNP	c.(1003-1005)ACG>ATG	35	35			ovary(2)|central_nervous_system(1)	3	Broad	aggrecan isoform 2 precursor			89386832		0.657	ENSG00000157766	117	g.chr15:89386832C>T	cell adhesion		hyaluronic acid binding|sugar binding							42.256476	KEEP	6	13	-1	14	34	6	13	-1	44.784864	14	34	0.283333	1	0	0	0	0	1	0	0	0	--	--		0	T			ACAN_uc002bmx.2_Missense_Mutation_p.T335M|ACAN_uc010upp.1_Missense_Mutation_p.T335M|ACAN_uc002bna.2_RNA	170	GBM-19-5950-TP	p.T335M	C	GCCAACCAGACGGGCTACCCC	NM_013227	NP_037359	89386832	E7EX88	E7EX88_HUMAN	0	BRCA - Breast invasive adenocarcinoma(143;0.146)		6	1378	+	T	T	Lung NSC(78;0.0392)|all_lung(78;0.077)		Missense_Mutation	335						
ACAN	0	broad.mit.edu	GRCh37	15	89386651	89386651	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-6173-01	TCGA-26-6173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000439576.2:c.823C>T	p.Arg275Trp	p.R275W	ENST00000439576	NM_013227.3	275	Cgg/Tgg	0			1			T	R/W	uc010upo.1	protein_coding	YES	CCDS53970.1			823/7593									ovary(2)|central_nervous_system(1)	3	c.(823-825)CGG>TGG			Gene3D:3.10.100.10,Pfam_domain:PF00193,PROSITE_patterns:PS01241,PROSITE_profiles:PS50963,hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF42,SMART_domains:SM00445,Superfamily_domains:SSF56436	aggrecan isoform 2 precursor				ENSP00000387356		18-Jun									COSM3401989,COSM3401990	18-Jun	.		ENST00000439576	Transcript	1		cell adhesion		hyaluronic acid binding|sugar binding	ENSG00000157766	g.chr15:89386651C>T	319			MODERATE		2.05	medium	getma.org/?cm=msa&ty=f&p=PGCA_HUMAN&rb=253&re=349&var=R275W	getma.org/pdb.php?prot=PGCA_HUMAN&from=253&to=349&var=R275W	getma.org/?cm=var&var=hg19,15,89386651,C,T&fts=all	R275W	--	--	1																																		ACAN_uc002bmx.2_Missense_Mutation_p.R275W|ACAN_uc010upp.1_Missense_Mutation_p.R275W|ACAN_uc002bna.2_RNA	1,1	1		unknown(0)	p.R275W	NM_013227	NP_037359		deleterious(0)	1,1		ACAN	HGNC	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		Q6LE94_HUMAN,E7EX88_HUMAN		6	1197	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		UPI0001B23381	275					SNV	ACAN,missense_variant,p.Arg275Trp,ENST00000439576,NM_013227.3;ACAN,missense_variant,p.Arg275Trp,ENST00000559004,;ACAN,missense_variant,p.Arg275Trp,ENST00000561243,;ACAN,missense_variant,p.Arg275Trp,ENST00000352105,NM_001135.3;ACAN,missense_variant,p.Arg275Trp,ENST00000558207,;	uc010upo.1	c.823C>T	1197/8840	2	2			c.823C>T						15	SNP	c.(823-825)CGG>TGG	31	31			ovary(2)|central_nervous_system(1)	3	Broad	aggrecan isoform 2 precursor			89386651		0.642	ENSG00000157766	117	g.chr15:89386651C>T	cell adhesion		hyaluronic acid binding|sugar binding							13.938095	KEEP	3	3	-1	16	6	3	3	-1	15.30204	16	6	0.25	1	0	0	0	0	1	0	0	0	--	--		0	T			ACAN_uc002bmx.2_Missense_Mutation_p.R275W|ACAN_uc010upp.1_Missense_Mutation_p.R275W|ACAN_uc002bna.2_RNA	187	GBM-26-6173-TP	p.R275W	C	TGAGTGCCGGCGGCTGGGTGC	NM_013227	NP_037359	89386651	E7EX88	E7EX88_HUMAN	0	BRCA - Breast invasive adenocarcinoma(143;0.146)		6	1197	+	T	T	Lung NSC(78;0.0392)|all_lung(78;0.077)		Missense_Mutation	275						
ACAN	0	broad.mit.edu	GRCh37	15	89389067	89389067	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-2572-01	TCGA-41-2572-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000439576.2:c.1383C>T	p.Leu461=	p.L461=	ENST00000439576	NM_013227.3	461	ctC/ctT	0	T:0		1			T	L	uc010upo.1	protein_coding	YES	CCDS53970.1			1383/7593									ovary(2)|central_nervous_system(1)	3	c.(1381-1383)CTC>CTT			hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF42	aggrecan isoform 2 precursor			T:0.0001	ENSP00000387356		18-Jul									rs371505346,COSM2014719,COSM2014718	18-Jul	.		ENST00000439576	Transcript	1		cell adhesion		hyaluronic acid binding|sugar binding	ENSG00000157766	g.chr15:89389067C>T	319			LOW								--	--	1																																		ACAN_uc002bmx.2_Silent_p.L461L|ACAN_uc010upp.1_Silent_p.L461L|ACAN_uc002bna.2_RNA	0,1,1	1			p.L461L	NM_013227	NP_037359			0,1,1		ACAN	HGNC	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		Q6LE94_HUMAN,E7EX88_HUMAN		7	1757	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		UPI0001B23381	461					SNV	ACAN,synonymous_variant,p.=,ENST00000439576,NM_013227.3;ACAN,synonymous_variant,p.=,ENST00000559004,;ACAN,synonymous_variant,p.=,ENST00000561243,;ACAN,synonymous_variant,p.=,ENST00000352105,NM_001135.3;ACAN,synonymous_variant,p.=,ENST00000558207,;	uc010upo.1	c.1383C>T	1757/8840	2	2			c.1383C>T						15	SNP	c.(1381-1383)CTC>CTT	20	20			ovary(2)|central_nervous_system(1)	3	Broad	aggrecan isoform 2 precursor			89389067		0.532	ENSG00000157766	117	g.chr15:89389067C>T	cell adhesion		hyaluronic acid binding|sugar binding							9.825924	KEEP	2	2	-1	1	1	2	2	-1	9.869647	1	1	0.6	1	0	0	0	0	0	0	1	0	--	--		0	T			ACAN_uc002bmx.2_Silent_p.L461L|ACAN_uc010upp.1_Silent_p.L461L|ACAN_uc002bna.2_RNA	251	GBM-41-2572-TP	p.L461L	C	GTGAGGACCTCGTCGTGCAGG	NM_013227	NP_037359	89389067	E7EX88	E7EX88_HUMAN	0	BRCA - Breast invasive adenocarcinoma(143;0.146)		7	1757	+	T	T	Lung NSC(78;0.0392)|all_lung(78;0.077)		Silent	461						
ACAP1	0	broad.mit.edu	GRCh37	17	7250193	7250193	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-12-3653-01	TCGA-12-3653-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000158762.3:c.1074C>A	p.Ser358Arg	p.S358R	ENST00000158762	NM_014716.3	358	agC/agA	0			1			A	S/R	uc002ggd.2	protein_coding	YES	CCDS11101.1			1074/2223									breast(2)|large_intestine(1)	3	c.(1072-1074)AGC>AGA			Gene3D:2.30.29.30,Pfam_domain:PF00169,PROSITE_profiles:PS50003,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF197,SMART_domains:SM00233,Superfamily_domains:SSF50729	centaurin beta1				ENSP00000158762		13/22									COSM3403192	13/22	.		ENST00000158762	Transcript			intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	ENSG00000072818	g.chr17:7250193C>A	16467			MODERATE		2.8	medium	getma.org/?cm=msa&ty=f&p=ACAP1_HUMAN&rb=266&re=360&var=S358R	getma.org/pdb.php?prot=ACAP1_HUMAN&from=266&to=360&var=S358R	getma.org/?cm=var&var=hg19,17,7250193,C,A&fts=all	S358R	--	--	1																																			1	1		possibly_damaging(0.757)	p.S358R	NM_014716	NP_055531		deleterious(0)	1	ACAP1_HUMAN	ACAP1	HGNC	Q15027	ACAP1_HUMAN			I3L2Z4_HUMAN,I3L268_HUMAN,I3L0K9_HUMAN		13	1280	+			UPI000012749A	358			PH.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.		SNV	ACAP1,missense_variant,p.Ser358Arg,ENST00000158762,NM_014716.3;ACAP1,downstream_gene_variant,,ENST00000570457,;ACAP1,downstream_gene_variant,,ENST00000575425,;ACAP1,upstream_gene_variant,,ENST00000574499,;ACAP1,upstream_gene_variant,,ENST00000571471,;ACAP1,upstream_gene_variant,,ENST00000575415,;ACAP1,upstream_gene_variant,,ENST00000570504,;ACAP1,downstream_gene_variant,,ENST00000573893,;ACAP1,non_coding_transcript_exon_variant,,ENST00000570439,;ACAP1,downstream_gene_variant,,ENST00000571220,;ACAP1,downstream_gene_variant,,ENST00000576628,;ACAP1,upstream_gene_variant,,ENST00000576594,;	uc002ggd.2	c.1074C>A	1280/2512	1	1			c.1074C>A						17	SNP	c.(1072-1074)AGC>AGA	49	49			breast(2)|large_intestine(1)	3	Broad	centaurin beta1			7250193		0.637	ENSG00000072818	118	g.chr17:7250193C>A	intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding							306.953184	KEEP	56	41	0.422680412	22	31	56	41	0.422680412	309.721079	22	31	0.646259	1	0	0	0	0	1	0	0	0	--	--		0	A				128	GBM-12-3653-TP	p.S358R	C	TGCAGAGCAGCATTGCTTCTG	NM_014716	NP_055531	7250193	Q15027	ACAP1_HUMAN	0			13	1280	+	A	A			Missense_Mutation	358			PH.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.			
ACAP2	23527		GRCh37	3	195015481	195015481	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000326793.6:c.1732T>C	p.Ser578Pro	p.S578P	ENST00000326793	NM_012287.5	578	Tcc/Ccc	0																																																																																																																																																																																																																																												
ACAP3	116983	broad.mit.edu	GRCh37	1	1229200	1229201	+	splice_donor_variant,intron_variant	Splice_Site	DEL	CA	CA	-			TCGA-06-0185-01	TCGA-06-0185-01	CA	CA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354700.5:c.2360+2_2360+3del		p.X787_splice	ENST00000354700	NM_030649.2	787		0			1			-		uc001aeb.2	protein_coding	YES	CCDS19.2			2360/2505										0	c.e23+1				ArfGAP with coiled-coil, ankyrin repeat and PH				ENSP00000346733			8.54E-06				0.000214				rs748438653,COSM2150507,COSM2150506		.		ENST00000354700	Transcript			filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	ENSG00000131584	g.chr1:1229200_1229201delCA	16754			HIGH	23/23							--	--	1																																		ACAP3_uc001ady.2_Splice_Site_p.L517_splice|ACAP3_uc001aea.2_Splice_Site_p.L712_splice	0,1,1	1			p.L787_splice	NM_030649	NP_085152			0,1,1	ACAP3_HUMAN	ACAP3	HGNC	Q96P50	ACAP3_HUMAN			Q8WTZ1_HUMAN,Q8N2W2_HUMAN		23	2434	-			UPI0000050F41						deletion	ACAP3,splice_donor_variant,,ENST00000354700,NM_030649.2;ACAP3,splice_donor_variant,,ENST00000353662,;SCNN1D,downstream_gene_variant,,ENST00000338555,;SCNN1D,downstream_gene_variant,,ENST00000379116,NM_001130413.3;SCNN1D,downstream_gene_variant,,ENST00000325425,;SCNN1D,downstream_gene_variant,,ENST00000400928,;SCNN1D,downstream_gene_variant,,ENST00000379099,;ACAP3,downstream_gene_variant,,ENST00000379037,;ACAP3,splice_donor_variant,,ENST00000492936,;ACAP3,splice_donor_variant,,ENST00000467278,;SCNN1D,downstream_gene_variant,,ENST00000379101,;ACAP3,downstream_gene_variant,,ENST00000472541,;ACAP3,downstream_gene_variant,,ENST00000476572,;ACAP3,downstream_gene_variant,,ENST00000470659,;ACAP3,downstream_gene_variant,,ENST00000493992,;	uc001aeb.2	c.2360_splice	-/3896	5	5			c.2360_splice						1	DEL	c.e23+1	18	18				0	Broad	ArfGAP with coiled-coil, ankyrin repeat and PH			1229201		0.752	ENSG00000131584	120	g.chr1:1229200_1229201delCA	filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding																				0.4	1	1	0	1	0	0	0	0	1	--	--		0	-			ACAP3_uc001ady.2_Splice_Site_p.L517_splice|ACAP3_uc001aea.2_Splice_Site_p.L712_splice	40	GBM-06-0185-TP	p.L787_splice	CA	CGGCCGCGCTCACAGTGTCACG	NM_030649	NP_085152	1229200	Q96P50	ACAP3_HUMAN	0			23	2434	-	-	-			Splice_Site							
ACAP3	116983	broad.mit.edu	GRCh37	1	1229020	1229020	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0238-01	TCGA-06-0238-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354700.5:c.2429del	p.Leu810ArgfsTer85	p.L810Rfs*85	ENST00000354700	NM_030649.2	810	cTg/cg	0			1			-	L/X	uc001aeb.2	protein_coding	YES	CCDS19.2			2429/2505										0	c.(2428-2430)CTGfs			Low_complexity_(Seg):seg,hmmpanther:PTHR23180:SF230,hmmpanther:PTHR23180	ArfGAP with coiled-coil, ankyrin repeat and PH				ENSP00000346733		24/24										24/24	.		ENST00000354700	Transcript			filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	ENSG00000131584	g.chr1:1229020delA	16754			HIGH								--	--	1																																		ACAP3_uc001ady.2_Frame_Shift_Del_p.L540fs|ACAP3_uc001aea.2_Frame_Shift_Del_p.L735fs		1			p.L810fs	NM_030649	NP_085152				ACAP3_HUMAN	ACAP3	HGNC	Q96P50	ACAP3_HUMAN			Q8WTZ1_HUMAN,Q8N2W2_HUMAN		24	2503	-			UPI0000050F41	810					deletion	ACAP3,frameshift_variant,p.Leu810ArgfsTer85,ENST00000354700,NM_030649.2;ACAP3,frameshift_variant,p.Leu735ArgfsTer85,ENST00000353662,;SCNN1D,downstream_gene_variant,,ENST00000338555,;SCNN1D,downstream_gene_variant,,ENST00000379116,NM_001130413.3;SCNN1D,downstream_gene_variant,,ENST00000325425,;SCNN1D,downstream_gene_variant,,ENST00000400928,;SCNN1D,downstream_gene_variant,,ENST00000379099,;ACAP3,downstream_gene_variant,,ENST00000379037,;ACAP3,non_coding_transcript_exon_variant,,ENST00000492936,;ACAP3,non_coding_transcript_exon_variant,,ENST00000467278,;SCNN1D,downstream_gene_variant,,ENST00000379101,;ACAP3,downstream_gene_variant,,ENST00000476572,;ACAP3,downstream_gene_variant,,ENST00000470659,;ACAP3,downstream_gene_variant,,ENST00000493992,;	uc001aeb.2	c.2429delT	2632/3896	5	5			c.2429delT						1	DEL	c.(2428-2430)CTGfs	29	29				0	Broad	ArfGAP with coiled-coil, ankyrin repeat and PH			1229020		0.721	ENSG00000131584	120	g.chr1:1229020delA	filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding																				0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			ACAP3_uc001ady.2_Frame_Shift_Del_p.L540fs|ACAP3_uc001aea.2_Frame_Shift_Del_p.L735fs	55	GBM-06-0238-TP	p.L810fs	A	GCTGCCCGCCAGGGCGCCCGG	NM_030649	NP_085152	1229020	Q96P50	ACAP3_HUMAN	0			24	2503	-	-	-			Frame_Shift_Del	810						
ACCSL	0	broad.mit.edu	GRCh37	11	44077630	44077630	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-19-2631-01	TCGA-19-2631-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378832.1:c.1180delA	p.Ser394ValfsTer25	p.S394Vfs*25	ENST00000378832	NM_001031854.2	394	Agt/gt	0			1			-	S/X	uc001mxw.1	protein_coding	YES	CCDS41636.1			1180/1707									ovary(5)	5	c.(1180-1182)AGTfs			hmmpanther:PTHR11751:SF344,hmmpanther:PTHR11751,Pfam_domain:PF00155,Gene3D:3.40.640.10,Superfamily_domains:SSF53383,Prints_domain:PR00753	1-aminocyclopropane-1-carboxylate synthase				ENSP00000368109		14-Oct									COSM2156398	14-Oct	.		ENST00000378832	Transcript					1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	ENSG00000205126	g.chr11:44077630delA	34391			HIGH								--	--	1																																		ACCSL_uc009ykr.2_Frame_Shift_Del_p.S213fs	1	1			p.S394fs	NM_001031854	NP_001027025			1	1A1L2_HUMAN	ACCSL	HGNC	Q4AC99	1A1L2_HUMAN					10	1236	+			UPI000023785D	394					deletion	ACCSL,frameshift_variant,p.Ser394ValfsTer25,ENST00000378832,NM_001031854.2;ACCSL,3_prime_UTR_variant,,ENST00000527145,;	uc001mxw.1	c.1180delA	1236/1820	5	5			c.1180delA						11	DEL	c.(1180-1182)AGTfs	57	57			ovary(5)	5	Broad	1-aminocyclopropane-1-carboxylate synthase			44077630		0.443	ENSG00000205126	134	g.chr11:44077630delA			1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups																				0.48	1	1	0	1	0	0	0	0	0	--	--		0	-			ACCSL_uc009ykr.2_Frame_Shift_Del_p.S213fs	167	GBM-19-2631-TP	p.S394fs	A	CTGGGGTACCAGTAAGGTGAG	NM_001031854	NP_001027025	44077630	Q4AC99	1A1L2_HUMAN	0			10	1236	+	-	-			Frame_Shift_Del	394						
ACE	0	broad.mit.edu	GRCh37	17	61554654	61554654	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290866.4:c.199delG	p.Ala67ProfsTer78	p.A67Pfs*78	ENST00000290866	NM_000789.3	67	Gcc/cc	0			1			-	A/X	uc002jau.1	protein_coding	YES	CCDS11637.1			199/3921									ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4	c.(199-201)GCCfs			hmmpanther:PTHR10514:SF19,hmmpanther:PTHR10514,Pfam_domain:PF01401,Superfamily_domains:SSF55486	angiotensin I converting enzyme 1 isoform 1	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)			ENSP00000290866		25-Jan										25-Jan	.		ENST00000290866	Transcript	1		arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	ENSG00000159640	g.chr17:61554654delG	2707			HIGH								--	--	1																																		ACE_uc010wph.1_Frame_Shift_Del_p.A67fs|ACE_uc010wpi.1_Frame_Shift_Del_p.A67fs|ACE_uc010ddu.1_5'UTR		1			p.A67fs	NM_000789	NP_000780				ACE_HUMAN	ACE	HGNC	P12821	ACE_HUMAN			Q3KRI5_HUMAN,D3DU13_HUMAN		1	221	+			UPI000002B8AD	67			Extracellular (Potential).|Peptidase M2 1.		deletion	ACE,frameshift_variant,p.Ala67ProfsTer78,ENST00000290866,NM_000789.3;ACE,frameshift_variant,p.Ala67ProfsTer78,ENST00000428043,;ACE,frameshift_variant,p.Ala67ProfsTer78,ENST00000538928,;ACE,upstream_gene_variant,,ENST00000582627,;ACE,non_coding_transcript_exon_variant,,ENST00000584529,;ACE,non_coding_transcript_exon_variant,,ENST00000583336,;ACE,frameshift_variant,p.Ala67ProfsTer115,ENST00000582678,;ACE,non_coding_transcript_exon_variant,,ENST00000579462,;ACE,upstream_gene_variant,,ENST00000580318,;	uc002jau.1	c.199delG	223/4199	5	5			c.199delG						17	DEL	c.(199-201)GCCfs	42	42			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4	Broad	angiotensin I converting enzyme 1 isoform 1		Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	61554654		0.507	ENSG00000159640	136	g.chr17:61554654delG	arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding																				0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			ACE_uc010wph.1_Frame_Shift_Del_p.A67fs|ACE_uc010wpi.1_Frame_Shift_Del_p.A67fs|ACE_uc010ddu.1_5'UTR	232	GBM-32-1982-TP	p.A67fs	G	GAGCGTGGCCGCCAGCTGGGC	NM_000789	NP_000780	61554654	P12821	ACE_HUMAN	0			1	221	+	-	-			Frame_Shift_Del	67			Extracellular (Potential).|Peptidase M2 1.			
ACE	1636		GRCh37	17	61560507	61560507	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000290866.4:c.1460G>A	p.Arg487His	p.R487H	ENST00000290866	NM_000789.3	487	cGc/cAc	0																																																																																																																																																																																																																																												
ACE2	59272	broad.mit.edu	GRCh37	X	15589843	15589843	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6389-01	TCGA-06-6389-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000427411.1:c.1741G>A	p.Val581Ile	p.V581I	ENST00000427411	NM_021804.2	581	Gta/Ata	0			1			T	V/I	uc004cxa.1	protein_coding		CCDS14169.1			1741/2418									ovary(3)	3	c.(1741-1743)GTA>ATA			hmmpanther:PTHR10514:SF24,hmmpanther:PTHR10514,Pfam_domain:PF01401,Superfamily_domains:SSF55486	angiotensin I converting enzyme 2 precursor	Moexipril(DB00691)			ENSP00000252519		13/18									COSM2153427	13/18	.		ENST00000252519	Transcript			angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	ENSG00000130234	g.chrX:15589843C>T	13557			MODERATE		3.04	medium	getma.org/?cm=msa&ty=f&p=ACE2_HUMAN&rb=13&re=613&var=V581I	getma.org/pdb.php?prot=ACE2_HUMAN&from=13&to=613&var=V581I	getma.org/?cm=var&var=hg19,X,15589843,C,T&fts=all	V581I	--	--	1																																		ACE2_uc004cxb.2_Missense_Mutation_p.V581I	1			benign(0.405)	p.V581I	NM_021804	NP_068576		deleterious(0)	1	ACE2_HUMAN	ACE2	HGNC	Q9BYF1	ACE2_HUMAN					13	1909	-	Hepatocellular(33;0.183)		UPI000000D907	581			Extracellular (Potential).		SNV	ACE2,missense_variant,p.Val581Ile,ENST00000427411,NM_021804.2;ACE2,missense_variant,p.Val581Ile,ENST00000252519,;	uc004cxa.1	c.1741G>A	1844/3393	1	1			c.1741G>A						23	SNP	c.(1741-1743)GTA>ATA	1	1			ovary(3)	3	Broad	angiotensin I converting enzyme 2 precursor		Moexipril(DB00691)	15589843		0.448	ENSG00000130234	137	g.chrX:15589843C>T	angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding							75.388537	KEEP	12	21	-1	44	56	12	21	-1	82.243722	44	56	0.252033	1	0	0	0	0	1	0	0	0	--	--		0	T			ACE2_uc004cxb.2_Missense_Mutation_p.V581I	105	GBM-06-6389-TP	p.V581I	C	AGTGGCCTTACATTCATGTTC	NM_021804	NP_068576	15589843	Q9BYF1	ACE2_HUMAN	0			13	1909	-	T	T	Hepatocellular(33;0.183)		Missense_Mutation	581			Extracellular (Potential).			
ACE2	0	broad.mit.edu	GRCh37	X	15582159	15582159	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252519.3:c.2297G>A	p.Arg766Lys	p.R766K	ENST00000252519		766	aGa/aAa	0			1			T	R/K	uc004cxa.1	protein_coding		CCDS14169.1			2297/2418									ovary(3)	3	c.(2296-2298)AGA>AAA			hmmpanther:PTHR10514:SF24,hmmpanther:PTHR10514	angiotensin I converting enzyme 2 precursor	Moexipril(DB00691)			ENSP00000252519		17/18									COSM3406189	17/18	.		ENST00000252519	Transcript			angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	ENSG00000130234	g.chrX:15582159C>T	13557			MODERATE		1.775	low	getma.org/?cm=msa&ty=f&p=ACE2_HUMAN&rb=614&re=805&var=R766K	NA	getma.org/?cm=var&var=hg19,X,15582159,C,T&fts=all	R766K	--	--	1																																		ACE2_uc004cxb.2_Missense_Mutation_p.R766K	1			benign(0.032)	p.R766K	NM_021804	NP_068576		tolerated_low_confidence(0.21)	1	ACE2_HUMAN	ACE2	HGNC	Q9BYF1	ACE2_HUMAN					17	2465	-	Hepatocellular(33;0.183)		UPI000000D907	766			Cytoplasmic (Potential).		SNV	ACE2,missense_variant,p.Arg766Lys,ENST00000427411,NM_021804.2;ACE2,missense_variant,p.Arg766Lys,ENST00000252519,;ACE2,non_coding_transcript_exon_variant,,ENST00000471548,;ACE2,non_coding_transcript_exon_variant,,ENST00000473851,;	uc004cxa.1	c.2297G>A	2400/3393	2	2			c.2297G>A						23	SNP	c.(2296-2298)AGA>AAA	47	47			ovary(3)	3	Broad	angiotensin I converting enzyme 2 precursor		Moexipril(DB00691)	15582159		0.413	ENSG00000130234	137	g.chrX:15582159C>T	angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding							235.487312	KEEP	48	53	-1	157	139	48	53	-1	254.01985	157	139	0.255132	1	0	0	0	0	1	0	0	0	--	--		0	T			ACE2_uc004cxb.2_Missense_Mutation_p.R766K	159	GBM-19-1390-TP	p.R766K	C	CTTCCGATCTCTGATCCCAGT	NM_021804	NP_068576	15582159	Q9BYF1	ACE2_HUMAN	0			17	2465	-	T	T	Hepatocellular(33;0.183)		Missense_Mutation	766			Cytoplasmic (Potential).			
ACER2	340485	broad.mit.edu	GRCh37	9	19423911	19423911	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs145427232		TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340967.2:c.160C>T	p.Arg54Cys	p.R54C	ENST00000340967	NM_001010887.2	54	Cgt/Tgt	0			1			T	R/C	uc003zny.1	protein_coding	YES	CCDS34992.1			160/828						not_provided		p.R54C(1)	haematopoietic_and_lymphoid_tissue(1)|skin(1)	2	c.(160-162)CGT>TGT			hmmpanther:PTHR12956:SF21,hmmpanther:PTHR12956,Pfam_domain:PF05875	alkaline ceramidase 2				ENSP00000342609		6-Feb	8.24E-06					1.50E-05			rs145427232,COSM109182,COSM1624837	6-Feb	.		ENST00000340967	Transcript			ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity	ENSG00000177076	g.chr9:19423911C>T	23675			MODERATE		2.24	medium	getma.org/?cm=msa&ty=f&p=ACER2_HUMAN&rb=7&re=263&var=R54C	NA	getma.org/?cm=var&var=hg19,9,19423911,C,T&fts=all	R54C	--	--	1																																		ACER2_uc003znx.1_RNA|ACER2_uc003znz.1_Missense_Mutation_p.R5C	1,1,1	1	21499247	probably_damaging(0.946)	p.R54C	NM_001010887	NP_001010887		deleterious(0.03)	1,1,1	ACER2_HUMAN	ACER2	HGNC	Q5QJU3	ACER2_HUMAN					2	318	+			UPI000014042D	54			Cytoplasmic (Potential).		SNV	ACER2,missense_variant,p.Arg54Cys,ENST00000340967,NM_001010887.2;ACER2,missense_variant,p.Arg5Cys,ENST00000380376,;	uc003zny.1	c.160C>T	186/2238	2	2			c.160C>T						9	SNP	c.(160-162)CGT>TGT	45	45		p.R54C(1)	haematopoietic_and_lymphoid_tissue(1)|skin(1)	2	Broad	alkaline ceramidase 2			19423911		0.398	ENSG00000177076	139	g.chr9:19423911C>T	ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity							492.510761	KEEP	74	96	-1	30	32	74	96	-1	501.829083	30	32	0.729592	1	0	0	0	0	1	0	0	0	--	--		0	T			ACER2_uc003znx.1_RNA|ACER2_uc003znz.1_Missense_Mutation_p.R5C	102	GBM-06-5858-TP	p.R54C	C	GTGCTTGTTTCGTCAGTATGC	NM_001010887	NP_001010887	19423911	Q5QJU3	ACER2_HUMAN	0			2	318	+	T	T			Missense_Mutation	54			Cytoplasmic (Potential).			
ACER3	0	broad.mit.edu	GRCh37	11	76701596	76701596	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-5220-01	TCGA-28-5220-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000532485.1:c.416T>C	p.Val139Ala	p.V139A	ENST00000532485	NM_018367.5	139	gTa/gCa	0			1			C	V/A	uc009yum.1	protein_coding	YES	CCDS8247.1			416/804										0	c.(415-417)GTA>GCA			Pfam_domain:PF05875,hmmpanther:PTHR12956,hmmpanther:PTHR12956:SF4	phytoceramidase, alkaline				ENSP00000434480		11-Jun									COSM2018544	11-Jun	.		ENST00000532485	Transcript			ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process	integral to endoplasmic reticulum membrane|integral to Golgi membrane	phytoceramidase activity	ENSG00000078124	g.chr11:76701596T>C	16066			MODERATE		1.185	low	getma.org/?cm=msa&ty=f&p=ACER3_HUMAN&rb=8&re=261&var=V139A	NA	getma.org/?cm=var&var=hg19,11,76701596,T,C&fts=all	V139A	--	--	1																																		ACER3_uc010rsg.1_Missense_Mutation_p.V97A|ACER3_uc009yul.1_RNA|ACER3_uc001oxu.2_RNA|ACER3_uc009yun.1_Missense_Mutation_p.V97A|ACER3_uc009yuo.1_Missense_Mutation_p.V44A|ACER3_uc010rsh.1_Missense_Mutation_p.V102A|ACER3_uc010rsi.1_Missense_Mutation_p.V44A|ACER3_uc010rsj.1_Missense_Mutation_p.V44A	1	1		benign(0.309)	p.V139A	NM_018367	NP_060837		tolerated(0.08)	1	ACER3_HUMAN	ACER3	HGNC	Q9NUN7	ACER3_HUMAN			F5GYA0_HUMAN,E9PIN9_HUMAN,B7Z2V2_HUMAN		6	520	+			UPI000013DB7C	139					SNV	ACER3,missense_variant,p.Val139Ala,ENST00000532485,NM_018367.5;ACER3,missense_variant,p.Val97Ala,ENST00000538157,;ACER3,missense_variant,p.Val44Ala,ENST00000526597,;ACER3,missense_variant,p.Val102Ala,ENST00000533873,;ACER3,missense_variant,p.Val97Ala,ENST00000534206,;ACER3,upstream_gene_variant,,ENST00000544113,;ACER3,non_coding_transcript_exon_variant,,ENST00000530182,;ACER3,non_coding_transcript_exon_variant,,ENST00000527508,;ACER3,3_prime_UTR_variant,,ENST00000278544,;ACER3,3_prime_UTR_variant,,ENST00000531352,;ACER3,3_prime_UTR_variant,,ENST00000525861,;ACER3,3_prime_UTR_variant,,ENST00000531461,;ACER3,3_prime_UTR_variant,,ENST00000530334,;ACER3,3_prime_UTR_variant,,ENST00000525194,;	uc009yum.1	c.416T>C	520/7378	3	3			c.416T>C						11	SNP	c.(415-417)GTA>GCA	16	16				0	Broad	phytoceramidase, alkaline			76701596		0.338	ENSG00000078124	140	g.chr11:76701596T>C	ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process	integral to endoplasmic reticulum membrane|integral to Golgi membrane	phytoceramidase activity							-103.274659	KEEP	6	5	-1	262	260	6	5	-1	19.418338	262	260	0.019068	1	0	0	0	0	1	0	0	0	--	--		0	C			ACER3_uc010rsg.1_Missense_Mutation_p.V97A|ACER3_uc009yul.1_RNA|ACER3_uc001oxu.2_RNA|ACER3_uc009yun.1_Missense_Mutation_p.V97A|ACER3_uc009yuo.1_Missense_Mutation_p.V44A|ACER3_uc010rsh.1_Missense_Mutation_p.V102A|ACER3_uc010rsi.1_Missense_Mutation_p.V44A|ACER3_uc010rsj.1_Missense_Mutation_p.V44A	226	GBM-28-5220-TP	p.V139A	T	TACCTTAAGGTAAAAGAGCCG	NM_018367	NP_060837	76701596	Q9NUN7	ACER3_HUMAN	0			6	520	+	C	C			Missense_Mutation	139						
ACHE	43		GRCh37	7	100490909	100490909	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000302913.4:c.945C>T	p.His315=	p.H315=	ENST00000302913	NM_015831.2	315	caC/caT	0																																																																																																																																																																																																																																												
ACIN1	0	broad.mit.edu	GRCh37	14	23531439	23531439	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs138390500	byFrequency	TCGA-27-2521-01	TCGA-27-2521-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262710.1:c.3211G>A	p.Gly1071Arg	p.G1071R	ENST00000262710	NM_001164814.1	1071	Ggg/Agg	0	T:0.0005		1			T	G/R	uc001wit.3	protein_coding	YES	CCDS9587.1			3211/4026									ovary(2)|large_intestine(1)|skin(1)	4	c.(3211-3213)GGG>AGG			Superfamily_domains:SSF54928,Gene3D:3.30.70.330,Pfam_domain:PF13893,hmmpanther:PTHR14127	apoptotic chromatin condensation inducer 1			T:0	ENSP00000262710		16/19	0.000124	0.000384		0.00104		3.00E-05			rs138390500,COSM3401239,COSM3401240	16/19	common_variant		ENST00000262710	Transcript			apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	ENSG00000100813	g.chr14:23531439C>T	17066			MODERATE		2.595	medium	getma.org/?cm=msa&ty=f&p=ACINU_HUMAN&rb=1028&re=1087&var=G1071R	NA	getma.org/?cm=var&var=hg19,14,23531439,C,T&fts=all	G1071R	--	--	1																																		ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.G313R|ACIN1_uc001wiq.3_Missense_Mutation_p.G313R|ACIN1_uc001wir.3_Missense_Mutation_p.G344R|ACIN1_uc001wis.3_Missense_Mutation_p.G752R|ACIN1_uc010akg.2_Missense_Mutation_p.G1058R	0,1,1	1		possibly_damaging(0.809)	p.G1071R	NM_014977	NP_055792			0,1,1	ACINU_HUMAN	ACIN1	HGNC	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	S4R3H4_HUMAN		16	3539	-	all_cancers(95;1.36e-05)		UPI000013D308	1071					SNV	ACIN1,missense_variant,p.Gly1071Arg,ENST00000262710,NM_001164814.1,NM_014977.3;ACIN1,missense_variant,p.Gly1031Arg,ENST00000457657,NM_001164815.1;ACIN1,missense_variant,p.Gly1013Arg,ENST00000605057,;ACIN1,missense_variant,p.Gly1058Arg,ENST00000555053,;ACIN1,missense_variant,p.Gly312Arg,ENST00000557515,;ACIN1,missense_variant,p.Gly313Arg,ENST00000397341,;ACIN1,missense_variant,p.Gly313Arg,ENST00000357481,NM_001164817.1;ACIN1,missense_variant,p.Gly344Arg,ENST00000338631,NM_001164816.1;CDH24,upstream_gene_variant,,ENST00000397359,NM_022478.3;CDH24,upstream_gene_variant,,ENST00000487137,NM_144985.3;ACIN1,downstream_gene_variant,,ENST00000555566,;ACIN1,non_coding_transcript_exon_variant,,ENST00000473758,;ACIN1,non_coding_transcript_exon_variant,,ENST00000555478,;ACIN1,non_coding_transcript_exon_variant,,ENST00000555395,;ACIN1,downstream_gene_variant,,ENST00000555807,;ACIN1,downstream_gene_variant,,ENST00000554680,;ACIN1,downstream_gene_variant,,ENST00000553790,;ACIN1,downstream_gene_variant,,ENST00000556052,;ACIN1,downstream_gene_variant,,ENST00000557039,;	uc001wit.3	c.3211G>A	3539/4935	2	2			c.3211G>A						14	SNP	c.(3211-3213)GGG>AGG	48	48			ovary(2)|large_intestine(1)|skin(1)	4	Broad	apoptotic chromatin condensation inducer 1			23531439		0.552	ENSG00000100813	142	g.chr14:23531439C>T	apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding							-53.099694	KEEP	4	1	-1	120	140	4	1	-1	7.357819	120	140	0.017391	1	0	0	0	0	1	0	0	0	--	--		0	T			ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.G313R|ACIN1_uc001wiq.3_Missense_Mutation_p.G313R|ACIN1_uc001wir.3_Missense_Mutation_p.G344R|ACIN1_uc001wis.3_Missense_Mutation_p.G752R|ACIN1_uc010akg.2_Missense_Mutation_p.G1058R	200	GBM-27-2521-TP	p.G1071R	C	CATTTGACCCCGTGCAGAGCT	NM_014977	NP_055792	23531439	Q9UKV3	ACINU_HUMAN	0		GBM - Glioblastoma multiforme(265;0.00816)	16	3539	-	T	T	all_cancers(95;1.36e-05)		Missense_Mutation	1071						
ACIN1	0	broad.mit.edu	GRCh37	14	23564497	23564497	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A			TCGA-41-5651-01	TCGA-41-5651-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262710.1:c.-2C>T		*1*	ENST00000262710	NM_001164814.1			0			1			A		uc001wit.3	protein_coding	YES	CCDS9587.1			-/4026									ovary(2)|large_intestine(1)|skin(1)	4	c.(-3-1)AACGA>AATGA				apoptotic chromatin condensation inducer 1				ENSP00000262710		19-Jan										19-Jan	.		ENST00000262710	Transcript			apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	ENSG00000100813	g.chr14:23564497G>A	17066			MODIFIER								--	--	1																																		ACIN1_uc010akg.2_Translation_Start_Site|ACIN1_uc010tnj.1_Translation_Start_Site|C14orf119_uc001wiu.2_5'Flank		1				NM_014977	NP_055792				ACINU_HUMAN	ACIN1	HGNC	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	S4R3H4_HUMAN		1	327	-	all_cancers(95;1.36e-05)		UPI000013D308						SNV	ACIN1,5_prime_UTR_variant,,ENST00000262710,NM_001164814.1,NM_014977.3;ACIN1,5_prime_UTR_variant,,ENST00000457657,NM_001164815.1;ACIN1,5_prime_UTR_variant,,ENST00000555053,;C14orf119,5_prime_UTR_variant,,ENST00000319074,NM_017924.3;ACIN1,upstream_gene_variant,,ENST00000605057,;C14orf119,upstream_gene_variant,,ENST00000554203,;	uc001wit.3	c.-1C>T	327/4935	2	2			c.-1C>T						14	SNP	c.(-3-1)AACGA>AATGA	38	38			ovary(2)|large_intestine(1)|skin(1)	4	Broad	apoptotic chromatin condensation inducer 1			23564497		0.542	ENSG00000100813	142	g.chr14:23564497G>A	apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding							71.025642	KEEP	12	19	-1	25	29	12	19	-1	72.820597	25	29	0.337662	1	0	0	0	0	0	0	0	0	--	--		0	A			ACIN1_uc010akg.2_Translation_Start_Site|ACIN1_uc010tnj.1_Translation_Start_Site|C14orf119_uc001wiu.2_5'Flank	258	GBM-41-5651-TP		G	TCTCCACATCGTTACCAATCA	NM_014977	NP_055792	23564497	Q9UKV3	ACINU_HUMAN	0		GBM - Glioblastoma multiforme(265;0.00816)	1	327	-	A	A	all_cancers(95;1.36e-05)		Translation_Start_Site							
ACKR2	1238	broad.mit.edu	GRCh37	3	42906816	42906816	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000422265.1:c.822G>A	p.Thr274=	p.T274=	ENST00000422265	NM_001296.4	274	acG/acA	0			1			A	T	uc003cme.2	protein_coding		CCDS2706.1			822/1155									lung(4)|skin(1)	5	c.(820-822)ACG>ACA			Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF10,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321	chemokine binding protein 2				ENSP00000273145		2-Feb									COSM3408675	2-Feb	.		ENST00000273145	Transcript			chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity	ENSG00000144648	g.chr3:42906816G>A	1565			LOW								--	--	1																																		CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmf.2_Silent_p.T274T|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Intron	1				p.T274T	NM_001296	NP_001287			1	ACKR2_HUMAN	ACKR2	HGNC	O00590	CCBP2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.241)			3	1001	+			UPI000004358E	274			Extracellular (Potential).		SNV	ACKR2,synonymous_variant,p.=,ENST00000422265,NM_001296.4;ACKR2,synonymous_variant,p.=,ENST00000273145,;ACKR2,synonymous_variant,p.=,ENST00000442925,;CYP8B1,intron_variant,,ENST00000437102,;KRBOX1,intron_variant,,ENST00000426937,;ACKR2,downstream_gene_variant,,ENST00000493193,;ACKR2,downstream_gene_variant,,ENST00000494619,;ACKR2,downstream_gene_variant,,ENST00000497921,;ACKR2,downstream_gene_variant,,ENST00000492609,;RP11-141M3.5,intron_variant,,ENST00000471537,;ACKR2,intron_variant,,ENST00000498111,;RP11-141M3.5,intron_variant,,ENST00000496604,;ACKR2,intron_variant,,ENST00000460855,;KRBOX1,intron_variant,,ENST00000451200,;RP11-141M3.5,intron_variant,,ENST00000487368,;ACKR2,downstream_gene_variant,,ENST00000463699,;	uc003cme.2	c.822G>A	952/2910	2	2			c.822G>A						3	SNP	c.(820-822)ACG>ACA	28	28			lung(4)|skin(1)	5	Broad	chemokine binding protein 2			42906816		0.537	ENSG00000144648	2683	g.chr3:42906816G>A	chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity							379.492508	KEEP	65	70	-1	72	62	65	70	-1	379.514451	72	62	0.50996	1	0	0	0	0	0	0	1	0	--	--		0	A			CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmf.2_Silent_p.T274T|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Intron	8	GBM-02-2486-TP	p.T274T	G	TTCTGCATACGCTGTTGGACC	NM_001296	NP_001287	42906816	O00590	CCBP2_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.241)	3	1001	+	A	A			Silent	274			Extracellular (Potential).			
ACKR2	0	broad.mit.edu	GRCh37	3	42905968	42905968	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T			TCGA-32-1991-01	TCGA-32-1991-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273145.2:c.-27C>T		*9*	ENST00000273145				0			1			T		uc003cme.2	protein_coding		CCDS2706.1			-/1155									lung(4)|skin(1)	5	c.(-28--24)GACGT>GATGT				chemokine binding protein 2				ENSP00000273145		2-Feb	8.24E-06	0.000102							rs762750713	2-Feb	.		ENST00000273145	Transcript			chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity	ENSG00000144648	g.chr3:42905968C>T	1565			MODIFIER								--	--	1																																		CCBP2_uc003cmd.1_Translation_Start_Site|CCBP2_uc003cmf.2_Translation_Start_Site|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Intron						NM_001296	NP_001287				ACKR2_HUMAN	ACKR2	HGNC	O00590	CCBP2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.241)			3	153	+			UPI000004358E						SNV	ACKR2,5_prime_UTR_variant,,ENST00000422265,NM_001296.4;ACKR2,5_prime_UTR_variant,,ENST00000273145,;ACKR2,5_prime_UTR_variant,,ENST00000442925,;ACKR2,5_prime_UTR_variant,,ENST00000493193,;ACKR2,5_prime_UTR_variant,,ENST00000494619,;ACKR2,5_prime_UTR_variant,,ENST00000497921,;ACKR2,5_prime_UTR_variant,,ENST00000492609,;CYP8B1,intron_variant,,ENST00000437102,;KRBOX1,intron_variant,,ENST00000426937,;ACKR2,non_coding_transcript_exon_variant,,ENST00000498111,;ACKR2,non_coding_transcript_exon_variant,,ENST00000463699,;ACKR2,non_coding_transcript_exon_variant,,ENST00000460855,;RP11-141M3.5,intron_variant,,ENST00000471537,;RP11-141M3.5,intron_variant,,ENST00000496604,;KRBOX1,intron_variant,,ENST00000451200,;RP11-141M3.5,intron_variant,,ENST00000487368,;	uc003cme.2	c.-26C>T	104/2910	2	2			c.-26C>T						3	SNP	c.(-28--24)GACGT>GATGT	43	43			lung(4)|skin(1)	5	Broad	chemokine binding protein 2			42905968		0.527	ENSG00000144648	2683	g.chr3:42905968C>T	chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity							130.056225	KEEP	17	26	-1	8	12	17	26	-1	132.195325	8	12	0.7	1	0	0	0	0	0	0	0	0	--	--		0	T			CCBP2_uc003cmd.1_Translation_Start_Site|CCBP2_uc003cmf.2_Translation_Start_Site|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Intron	234	GBM-32-1991-TP		C	CACTACAGGACGTCGGGACTG	NM_001296	NP_001287	42905968	O00590	CCBP2_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.241)	3	153	+	T	T			Translation_Start_Site							
ACMSD	0	broad.mit.edu	GRCh37	2	135621053	135621053	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-14-0817-01	TCGA-14-0817-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356140.5:c.338G>T	p.Gly113Val	p.G113V	ENST00000356140	NM_138326.2	113	gGt/gTt	0			1			T	G/V	uc002ttz.2	protein_coding	YES	CCDS2173.2			338/1011									skin(1)	1	c.(337-339)GGT>GTT			hmmpanther:PTHR21240:SF3,hmmpanther:PTHR21240,Gene3D:3.20.20.140,Pfam_domain:PF04909,Superfamily_domains:SSF51556	aminocarboxymuconate semialdehyde decarboxylase				ENSP00000348459		10-May									COSM3406880	10-May	.		ENST00000356140	Transcript			quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding	ENSG00000153086	g.chr2:135621053G>T	19288			MODERATE		2.785	medium	getma.org/?cm=msa&ty=f&p=ACMSD_HUMAN&rb=3&re=330&var=G113V	getma.org/pdb.php?prot=ACMSD_HUMAN&from=3&to=330&var=G113V	getma.org/?cm=var&var=hg19,2,135621053,G,T&fts=all	G113V	--	--	1																																		ACMSD_uc002tua.2_Missense_Mutation_p.G55V	1	1		probably_damaging(0.999)	p.G113V	NM_138326	NP_612199		deleterious(0)	1	ACMSD_HUMAN	ACMSD	HGNC	Q8TDX5	ACMSD_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.115)			5	405	+			UPI000006FB91	113					SNV	ACMSD,missense_variant,p.Gly113Val,ENST00000356140,NM_138326.2;ACMSD,missense_variant,p.Gly55Val,ENST00000392928,;ACMSD,missense_variant,p.Gly55Val,ENST00000283054,;CCNT2-AS1,intron_variant,,ENST00000392929,;CCNT2-AS1,downstream_gene_variant,,ENST00000537615,;CCNT2-AS1,downstream_gene_variant,,ENST00000428857,;CCNT2-AS1,downstream_gene_variant,,ENST00000413962,;ACMSD,non_coding_transcript_exon_variant,,ENST00000485893,;ACMSD,downstream_gene_variant,,ENST00000498093,;	uc002ttz.2	c.338G>T	474/1321	1	1			c.338G>T						2	SNP	c.(337-339)GGT>GTT	4	4			skin(1)	1	Broad	aminocarboxymuconate semialdehyde decarboxylase			135621053		0.587	ENSG00000153086	144	g.chr2:135621053G>T	quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding							-19.426823	KEEP	6	5	0.545454545	81	86	6	5	0.545454545	16.329904	81	86	0.048485	1	0	0	0	0	1	0	0	0	--	--		0	T			ACMSD_uc002tua.2_Missense_Mutation_p.G55V	139	GBM-14-0817-TP	p.G113V	G	AGGTTCGTGGGTCTGGGGACG	NM_138326	NP_612199	135621053	Q8TDX5	ACMSD_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.115)	5	405	+	T	T			Missense_Mutation	113						
ACO1	0	broad.mit.edu	GRCh37	9	32430435	32430435	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-41-5651-01	TCGA-41-5651-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309951.6:c.1589G>T	p.Gly530Val	p.G530V	ENST00000309951	NM_002197.2	530	gGa/gTa	0			1			T	G/V	uc003zqw.3	protein_coding	YES	CCDS6525.1			1589/2670										0	c.(1588-1590)GGA>GTA			hmmpanther:PTHR11670:SF32,hmmpanther:PTHR11670,Pfam_domain:PF00330,TIGRFAM_domain:TIGR01341,Gene3D:3.30.499.10,Superfamily_domains:SSF53732	aconitase 1				ENSP00000309477		14/21									COSM3413587,COSM3413588	14/21	.		ENST00000309951	Transcript			citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	ENSG00000122729	g.chr9:32430435G>T	117			MODERATE		1.975	medium	getma.org/?cm=msa&ty=f&p=ACOC_HUMAN&rb=54&re=564&var=G530V	getma.org/pdb.php?prot=ACOC_HUMAN&from=54&to=564&var=G530V	getma.org/?cm=var&var=hg19,9,32430435,G,T&fts=all	G530V	--	--	1																																		ACO1_uc010mjh.1_Missense_Mutation_p.G364V|ACO1_uc003zqx.3_Missense_Mutation_p.G530V|ACO1_uc003zqy.3_RNA	1,1	1		probably_damaging(0.986)	p.G530V	NM_002197	NP_002188		deleterious(0)	1,1	ACOC_HUMAN	ACO1	HGNC	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	Q9HBB2_HUMAN		14	1744	+			UPI000012D87E	530					SNV	ACO1,missense_variant,p.Gly530Val,ENST00000309951,NM_002197.2;ACO1,missense_variant,p.Gly530Val,ENST00000379923,NM_001278352.1;ACO1,missense_variant,p.Gly431Val,ENST00000541043,;	uc003zqw.3	c.1589G>T	1727/7466	2	2			c.1589G>T						9	SNP	c.(1588-1590)GGA>GTA	32	32				0	Broad	aconitase 1			32430435		0.453	ENSG00000122729	146	g.chr9:32430435G>T	citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding							126.139301	KEEP	19	33	0.365384615	29	37	19	33	0.365384615	126.609377	29	37	0.428571	1	0	0	0	0	1	0	0	0	--	--		0	T			ACO1_uc010mjh.1_Missense_Mutation_p.G364V|ACO1_uc003zqx.3_Missense_Mutation_p.G530V|ACO1_uc003zqy.3_RNA	258	GBM-41-5651-TP	p.G530V	G	GTAGCTGTTGGAGTACTATCT	NM_002197	NP_002188	32430435	P21399	ACOC_HUMAN	0	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	14	1744	+	T	T			Missense_Mutation	530						
ACOT1	0	broad.mit.edu	GRCh37	14	74004293	74004293	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-1597-01	TCGA-12-1597-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311148.4:c.168C>T	p.Thr56=	p.T56=	ENST00000311148	NM_001037161.1	56	acC/acT	0			1			T	T	uc001xol.1	protein_coding	YES	CCDS32117.1			168/1266										0	c.(166-168)ACC>ACT			hmmpanther:PTHR10824,hmmpanther:PTHR10824:SF5,Pfam_domain:PF04775,PIRSF_domain:PIRSF016521	acyl-CoA thioesterase 1				ENSP00000311224		3-Jan	0.00178	0.00168	0.00291		0.00712	0.0063	0.0149	0.00356	rs779044350,COSM3401457	3-Jan	common_variant		ENST00000311148	Transcript			acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	cytosol	carboxylesterase activity|palmitoyl-CoA hydrolase activity	ENSG00000184227	g.chr14:74004293C>T	33128			LOW								--	--	1																																		HEATR4_uc010tua.1_Intron|ACOT1_uc010tuc.1_Silent_p.T56T	0,1	1			p.T56T	NM_001037161	NP_001032238			0,1	ACOT1_HUMAN	ACOT1	HGNC	Q86TX2	ACOT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)	E9KL42_HUMAN		1	366	+			UPI000000CC4B	56					SNV	ACOT1,synonymous_variant,p.=,ENST00000311148,NM_001037161.1;ACOT1,synonymous_variant,p.=,ENST00000557556,;HEATR4,intron_variant,,ENST00000553558,NM_001220484.1;HEATR4,intron_variant,,ENST00000334988,NM_203309.2;HEATR4,intron_variant,,ENST00000560393,;HEATR4,intron_variant,,ENST00000563329,;NT5CP2,downstream_gene_variant,,ENST00000553305,;	uc001xol.1	c.168C>T	476/1713	2	2			c.168C>T						14	SNP	c.(166-168)ACC>ACT	17	17				0	Broad	acyl-CoA thioesterase 1			74004293		0.746	ENSG00000184227	148	g.chr14:74004293C>T	acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	cytosol	carboxylesterase activity|palmitoyl-CoA hydrolase activity							16.374525	KEEP	3	2	-1	1	5	3	2	-1	16.374525	1	5	0.5	1	0	0	0	0	0	0	1	0	--	--		0	T			HEATR4_uc010tua.1_Intron|ACOT1_uc010tuc.1_Silent_p.T56T	124	GBM-12-1597-TP	p.T56T	C	GCGCCGACACCCTTGGCGAGC	NM_001037161	NP_001032238	74004293	Q86TX2	ACOT1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)	1	366	+	T	T			Silent	56						
ACOT11	0	broad.mit.edu	GRCh37	1	55096492	55096492	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01	TCGA-14-1395-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371316.3:c.1715G>A	p.Arg572His	p.R572H	ENST00000371316	NM_015547.3	572	cGc/cAc	0	A:0.0002	A:0	1	A:0		A	R/H	uc001cxm.1	protein_coding	YES	CCDS592.1			1715/1824									central_nervous_system(1)	1	c.(1714-1716)CGC>CAC			Pfam_domain:PF01852,SMART_domains:SM00234	thioesterase, adipose associated isoform BFIT1		A:0	A:0.0001	ENSP00000360366	A:0.001	16/17	6.61E-05	0.000318				7.49E-05		0.000192	rs377475734,COSM191870	16/17	.		ENST00000371316	Transcript		A:0.0002	fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity	ENSG00000162390	g.chr1:55096492G>A	18156			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=ACO11_HUMAN&rb=384&re=590&var=R572H	NA	getma.org/?cm=var&var=hg19,1,55096492,G,A&fts=all	R572H	--	--	1																																			0,1	1		benign(0.002)	p.R572H	NM_015547	NP_056362	A:0		0,1	ACO11_HUMAN	ACOT11	HGNC	Q8WXI4	ACO11_HUMAN					16	1797	+			UPI0000136D55	572			START.		SNV	ACOT11,missense_variant,p.Arg572His,ENST00000371316,NM_015547.3;RP11-240D10.4,upstream_gene_variant,,ENST00000416119,;	uc001cxm.1	c.1715G>A	1797/6369	2	2			c.1715G>A						1	SNP	c.(1714-1716)CGC>CAC	28	28			central_nervous_system(1)	1	Broad	thioesterase, adipose associated isoform BFIT1			55096492		0	ENSG00000162390	149	g.chr1:55096492G>A	fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity	Ovarian(148;1440 1861 22015 32453 51933)			Ovarian(148;1440 1861 22015 32453 51933)			18.984724	KEEP	4	5	-1	13	10	4	5	-1	19.990022	13	10	0.296296	1	0	0	0	0	1	0	0	0	--	--		0	A				144	GBM-14-1395-TP	p.R572H	G	tcaaagggtcgcaggagcgac	NM_015547	NP_056362	55096492	Q8WXI4	ACO11_HUMAN	0			16	1797	+	A	A			Missense_Mutation	572			START.			
ACOT12	134526	broad.mit.edu	GRCh37	5	80643615	80643615	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-5417-01	TCGA-06-5417-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307624.3:c.631A>G	p.Thr211Ala	p.T211A	ENST00000307624	NM_130767.2	211	Aca/Gca	0			1			C	T/A	uc003khl.3	protein_coding	YES	CCDS4055.1			631/1668									ovary(1)|kidney(1)	2	c.(631-633)ACA>GCA			hmmpanther:PTHR11049,hmmpanther:PTHR11049:SF3,Pfam_domain:PF03061,Gene3D:3.10.129.10,Superfamily_domains:SSF54637	acyl-CoA thioesterase 12				ENSP00000303246		15-Jun									COSM2153315	15-Jun	.		ENST00000307624	Transcript			acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	ENSG00000172497	g.chr5:80643615T>C	24436			MODERATE		1.01	low	getma.org/?cm=msa&ty=f&p=ACO12_HUMAN&rb=197&re=274&var=T211A	getma.org/pdb.php?prot=ACO12_HUMAN&from=197&to=274&var=T211A	getma.org/?cm=var&var=hg19,5,80643615,T,C&fts=all	T211A	--	--	1																																		RNU5E_uc011cto.1_Intron	1	1		benign(0.026)	p.T211A	NM_130767	NP_570123		tolerated(0.17)	1	ACO12_HUMAN	ACOT12	HGNC	Q8WYK0	ACO12_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)			6	686	-		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	UPI0000126D7B	211			Acyl coenzyme A hydrolase 2.		SNV	ACOT12,missense_variant,p.Thr211Ala,ENST00000307624,NM_130767.2;ACOT12,upstream_gene_variant,,ENST00000508234,;	uc003khl.3	c.631A>G	660/2086	3	3			c.631A>G						5	SNP	c.(631-633)ACA>GCA	16	16			ovary(1)|kidney(1)	2	Broad	acyl-CoA thioesterase 12			80643615		0.498	ENSG00000172497	150	g.chr5:80643615T>C	acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity							749.056087	KEEP	137	155	-1	148	149	137	155	-1	749.080535	148	149	0.491917	1	0	0	0	0	1	0	0	0	--	--		0	C			RNU5E_uc011cto.1_Intron	99	GBM-06-5417-TP	p.T211A	T	GTAGCCACTGTCTCCATCCAC	NM_130767	NP_570123	80643615	Q8WYK0	ACO12_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)	6	686	-	C	C		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	Missense_Mutation	211			Acyl coenzyme A hydrolase 2.			
ACOT4	0	broad.mit.edu	GRCh37	14	74058995	74058995	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01	TCGA-41-3392-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326303.4:c.332G>A	p.Gly111Asp	p.G111D	ENST00000326303	NM_152331.3	111	gGc/gAc	0			1			A	G/D	uc001xoo.2	protein_coding	YES	CCDS9817.1			332/1266										0	c.(331-333)GGC>GAC			hmmpanther:PTHR10824:SF6,hmmpanther:PTHR10824,Pfam_domain:PF04775,PIRSF_domain:PIRSF016521,Superfamily_domains:SSF53474	acyl-CoA thioesterase 4				ENSP00000323071		3-Jan									COSM3401458	3-Jan	.		ENST00000326303	Transcript			acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity	ENSG00000177465	g.chr14:74058995G>A	19748			MODERATE		2.5	medium	getma.org/?cm=msa&ty=f&p=ACOT4_HUMAN&rb=15&re=142&var=G111D	getma.org/pdb.php?prot=ACOT4_HUMAN&from=15&to=142&var=G111D	getma.org/?cm=var&var=hg19,14,74058995,G,A&fts=all	G111D	--	--	1																																			1	1		possibly_damaging(0.861)	p.G111D	NM_152331	NP_689544		tolerated(0.05)	1	ACOT4_HUMAN	ACOT4	HGNC	Q8N9L9	ACOT4_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)			1	586	+			UPI000004BF01	111					SNV	ACOT4,missense_variant,p.Gly111Asp,ENST00000326303,NM_152331.3;	uc001xoo.2	c.332G>A	586/2362	2	2			c.332G>A						14	SNP	c.(331-333)GGC>GAC	35	35				0	Broad	acyl-CoA thioesterase 4			74058995		0.682	ENSG00000177465	153	g.chr14:74058995G>A	acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity							6.637489	KEEP	1	2	-1	8	6	1	2	-1	7.87743	8	6	0.2	1	0	0	0	0	1	0	0	0	--	--		0	A				254	GBM-41-3392-TP	p.G111D	G	GTGCTGGACGGCCACGACCCC	NM_152331	NP_689544	74058995	Q8N9L9	ACOT4_HUMAN	0		BRCA - Breast invasive adenocarcinoma(234;0.00331)	1	586	+	A	A			Missense_Mutation	111						
ACOT8	0	broad.mit.edu	GRCh37	20	44477248	44477248	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-1442-01	TCGA-26-1442-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217455.4:c.329G>A	p.Arg110His	p.R110H	ENST00000217455	NM_005469.3	110	cGc/cAc	0			1			T	R/H	uc002xqa.1	protein_coding	YES	CCDS13378.1			329/960									skin(1)	1	c.(328-330)CGC>CAC			hmmpanther:PTHR11066,hmmpanther:PTHR11066:SF34,Pfam_domain:PF13622,TIGRFAM_domain:TIGR00189,Gene3D:3.10.129.10,Superfamily_domains:SSF54637	peroxisomal acyl-CoA thioesterase 1 isoform a				ENSP00000217455		6-Mar	5.77E-05				0.00106				rs754407700,COSM1027296	6-Mar	common_variant		ENST00000217455	Transcript			bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding	ENSG00000101473	g.chr20:44477248C>T	15919			MODERATE		4.365	high	getma.org/?cm=msa&ty=f&p=ACOT8_HUMAN&rb=45&re=308&var=R110H	getma.org/pdb.php?prot=ACOT8_HUMAN&from=45&to=308&var=R110H	getma.org/?cm=var&var=hg19,20,44477248,C,T&fts=all	R110H	--	--	1																																		ACOT8_uc010zxe.1_Missense_Mutation_p.R110H|ACOT8_uc002xqc.1_Missense_Mutation_p.R57H|ACOT8_uc010zxf.1_Intron	0,1	1		probably_damaging(1)	p.R110H	NM_005469	NP_005460		deleterious(0)	0,1	ACOT8_HUMAN	ACOT8	HGNC	O14734	ACOT8_HUMAN					3	410	-		Myeloproliferative disorder(115;0.0122)	UPI00001328C3	110					SNV	ACOT8,missense_variant,p.Arg110His,ENST00000217455,NM_005469.3;ACOT8,missense_variant,p.Arg65His,ENST00000487205,;ACOT8,downstream_gene_variant,,ENST00000426915,;ACOT8,downstream_gene_variant,,ENST00000457981,;ACOT8,missense_variant,p.Arg110His,ENST00000461272,;ACOT8,missense_variant,p.Ala131Thr,ENST00000486165,;ACOT8,synonymous_variant,p.=,ENST00000488679,;ACOT8,3_prime_UTR_variant,,ENST00000481938,;ACOT8,non_coding_transcript_exon_variant,,ENST00000484975,;ACOT8,non_coding_transcript_exon_variant,,ENST00000493118,;ACOT8,non_coding_transcript_exon_variant,,ENST00000484783,;ACOT8,intron_variant,,ENST00000483141,;	uc002xqa.1	c.329G>A	420/1168	1	1			c.329G>A						20	SNP	c.(328-330)CGC>CAC	11	11			skin(1)	1	Broad	peroxisomal acyl-CoA thioesterase 1 isoform a			44477248		0.627	ENSG00000101473	156	g.chr20:44477248C>T	bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding							36.848547	KEEP	16	10	-1	61	60	16	10	-1	51.811107	61	60	0.160584	1	0	0	0	0	1	0	0	0	--	--		0	T			ACOT8_uc010zxe.1_Missense_Mutation_p.R110H|ACOT8_uc002xqc.1_Missense_Mutation_p.R57H|ACOT8_uc010zxf.1_Intron	180	GBM-26-1442-TP	p.R110H	C	CTTCACAGAGCGCACCGAGAA	NM_005469	NP_005460	44477248	O14734	ACOT8_HUMAN	0			3	410	-	T	T		Myeloproliferative disorder(115;0.0122)	Missense_Mutation	110						
ACOT9	23597		GRCh37	X	23731303	23731303	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000379303.5:c.611C>A	p.Pro204His	p.P204H	ENST00000379303	NM_001037171.1	204	cCt/cAt	0																																																																																																																																																																																																																																												
ACOX2	0	broad.mit.edu	GRCh37	3	58510285	58510285	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302819.5:c.1394C>T	p.Thr465Met	p.T465M	ENST00000302819	NM_003500.3	465	aCg/aTg	0			1			A	T/M	uc003dkl.2	protein_coding	YES	CCDS33775.1			1394/2046										0	c.(1393-1395)ACG>ATG			PIRSF_domain:PIRSF000168,hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF266	acyl-Coenzyme A oxidase 2				ENSP00000307697		15-Nov									COSM2782780	15-Nov	.		ENST00000302819	Transcript			bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity	ENSG00000168306	g.chr3:58510285G>A	120			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=ACOX2_HUMAN&rb=409&re=491&var=T465M	getma.org/pdb.php?prot=ACOX2_HUMAN&from=409&to=491&var=T465M	getma.org/?cm=var&var=hg19,3,58510285,G,A&fts=all	T465M	--	--	1																																			1	1		benign(0.186)	p.T465M	NM_003500	NP_003491		tolerated(0.15)	1	ACOX2_HUMAN	ACOX2	HGNC	Q99424	ACOX2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)	C9JY29_HUMAN,B4DPM1_HUMAN		11	1569	-			UPI000000DC36	465					SNV	ACOX2,missense_variant,p.Thr465Met,ENST00000302819,NM_003500.3;ACOX2,missense_variant,p.Thr451Met,ENST00000459701,;ACOX2,upstream_gene_variant,,ENST00000481527,;ACOX2,3_prime_UTR_variant,,ENST00000489472,;ACOX2,non_coding_transcript_exon_variant,,ENST00000467738,;ACOX2,downstream_gene_variant,,ENST00000459888,;	uc003dkl.2	c.1394C>T	1686/2426	2	2			c.1394C>T						3	SNP	c.(1393-1395)ACG>ATG	18	18				0	Broad	acyl-Coenzyme A oxidase 2			58510285		0.617	ENSG00000168306	159	g.chr3:58510285G>A	bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity							76.935717	KEEP	12	20	-1	39	44	12	20	-1	80.010107	39	44	0.308511	1	0	0	0	0	1	0	0	0	--	--		0	A				235	GBM-32-2491-TP	p.T465M	G	TCTCTGTGGCGTGGAGCCAGG	NM_003500	NP_003491	58510285	Q99424	ACOX2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)	11	1569	-	A	A			Missense_Mutation	465						
ACOXL	0	broad.mit.edu	GRCh37	2	111850527	111850527	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01	TCGA-41-5651-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389811.4:c.1616C>T	p.Thr539Met	p.T539M	ENST00000389811		539	aCg/aTg	0			1			T	T/M	uc002tgr.3	protein_coding					1616/1644										0	c.(1615-1617)ACG>ATG			Gene3D:1.20.140.10,Pfam_domain:PF01756,Superfamily_domains:SSF47203	acyl-Coenzyme A oxidase-like 2				ENSP00000374461		18/19	8.24E-06							6.06E-05	rs751027436,COSM3406783,COSM3406782	18/19	.		ENST00000389811	Transcript			fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	ENSG00000153093	g.chr2:111850527C>T	25621			MODERATE		-1.1	neutral	getma.org/?cm=msa&ty=f&p=ACOXL_HUMAN&rb=428&re=546&var=T539M	NA	getma.org/?cm=var&var=hg19,2,111850527,C,T&fts=all	T539M	--	--	1																																		ACOXL_uc010fkc.2_Missense_Mutation_p.T509M|ACOXL_uc010yxk.1_Missense_Mutation_p.T509M	0,1,1			benign(0.006)	p.T539M	NM_001105516	NP_001098986		tolerated(0.19)	0,1,1	ACOXL_HUMAN	ACOXL	HGNC	Q9NUZ1	ACOXL_HUMAN			C9JQI3_HUMAN		18	1840	+			UPI0000E5A27A	539					SNV	ACOXL,missense_variant,p.Thr539Met,ENST00000389811,;ACOXL,missense_variant,p.Thr509Met,ENST00000439055,NM_001142807.1;ACOXL,missense_variant,p.Thr347Met,ENST00000417074,;ACOXL,3_prime_UTR_variant,,ENST00000441974,;ACOXL,3_prime_UTR_variant,,ENST00000443586,;	uc002tgr.3	c.1616C>T	1840/2714	2	2			c.1616C>T						2	SNP	c.(1615-1617)ACG>ATG	24	24				0	Broad	acyl-Coenzyme A oxidase-like 2			111850527		0.483	ENSG00000153093	161	g.chr2:111850527C>T	fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			368			368	77.592279	KEEP	14	15	-1	12	20	14	15	-1	77.727654	12	20	0.446429	1	0	0	0	0	1	0	0	0	--	--		0	T			ACOXL_uc010fkc.2_Missense_Mutation_p.T509M|ACOXL_uc010yxk.1_Missense_Mutation_p.T509M	258	GBM-41-5651-TP	p.T539M	C	ATGGCCAGCACGAGGATCAGG	NM_001105516	NP_001098986	111850527	Q9NUZ1	ACOXL_HUMAN	0			18	1840	+	T	T			Missense_Mutation	539						
ACP6	51205	broad.mit.edu	GRCh37	1	147131584	147131584	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0213-01	TCGA-06-0213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369238.6:c.406G>A	p.Gly136Arg	p.G136R	ENST00000369238	NM_016361.4	136	Gga/Aga	0			1			T	G/R	uc001epr.2	protein_coding	YES	CCDS928.1			406/1287									ovary(4)	4	c.(406-408)GGA>AGA			Gene3D:3.40.50.1240,Pfam_domain:PF00328,hmmpanther:PTHR11567,hmmpanther:PTHR11567:SF116,Superfamily_domains:SSF53254	acid phosphatase 6, lysophosphatidic precursor				ENSP00000358241		10-Mar									COSM2150817,COSM3399676	10-Mar	.		ENST00000369238	Transcript			lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding	ENSG00000162836	g.chr1:147131584C>T	29609			MODERATE		3.295	medium	getma.org/?cm=msa&ty=f&p=PPA6_HUMAN&rb=49&re=379&var=G136R	getma.org/pdb.php?prot=PPA6_HUMAN&from=49&to=379&var=G136R	getma.org/?cm=var&var=hg19,1,147131584,C,T&fts=all	G136R	--	--	1																																		ACP6_uc009wjj.1_Missense_Mutation_p.G93R	1,1	1		probably_damaging(1)	p.G136R	NM_016361	NP_057445		deleterious(0)	1,1	PPA6_HUMAN	ACP6	HGNC	Q9NPH0	PPA6_HUMAN					3	870	-	all_hematologic(923;0.0276)		UPI000013E1D8	136					SNV	ACP6,missense_variant,p.Gly136Arg,ENST00000369238,NM_016361.4;ACP6,missense_variant,p.Gly136Arg,ENST00000392988,;ACP6,upstream_gene_variant,,ENST00000609196,;ACP6,non_coding_transcript_exon_variant,,ENST00000493129,;	uc001epr.2	c.406G>A	854/6926	2	2			c.406G>A						1	SNP	c.(406-408)GGA>AGA	33	33			ovary(4)	4	Broad	acid phosphatase 6, lysophosphatidic precursor			147131584		0.483	ENSG00000162836	165	g.chr1:147131584C>T	lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding							34.280541	KEEP	8	8	-1	34	28	8	8	-1	40.358164	34	28	0.202703	1	0	0	0	0	1	0	0	0	--	--		0	T			ACP6_uc009wjj.1_Missense_Mutation_p.G93R	49	GBM-06-0213-TP	p.G136R	C	AGTCTCTCTCCCAAGGCAAAC	NM_016361	NP_057445	147131584	Q9NPH0	PPA6_HUMAN	0			3	870	-	T	T	all_hematologic(923;0.0276)		Missense_Mutation	136						
ACP6	51205	broad.mit.edu	GRCh37	1	147119358	147119358	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2558-01	TCGA-06-2558-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369238.6:c.1154C>T	p.Pro385Leu	p.P385L	ENST00000369238	NM_016361.4	385	cCg/cTg	0			1			A	P/L	uc001epr.2	protein_coding	YES	CCDS928.1			1154/1287									ovary(4)	4	c.(1153-1155)CCG>CTG			Gene3D:3.40.50.1240,hmmpanther:PTHR11567,hmmpanther:PTHR11567:SF116,Superfamily_domains:SSF53254	acid phosphatase 6, lysophosphatidic precursor				ENSP00000358241		10-Oct	8.24E-06	9.69E-05							rs782391965,COSM2152634	10-Oct	.		ENST00000369238	Transcript			lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding	ENSG00000162836	g.chr1:147119358G>A	29609			MODERATE		1.4	low	getma.org/?cm=msa&ty=f&p=PPA6_HUMAN&rb=380&re=428&var=P385L	NA	getma.org/?cm=var&var=hg19,1,147119358,G,A&fts=all	P385L	--	--	1																																			0,1	1		benign(0.005)	p.P385L	NM_016361	NP_057445		tolerated(0.31)	0,1	PPA6_HUMAN	ACP6	HGNC	Q9NPH0	PPA6_HUMAN					10	1618	-	all_hematologic(923;0.0276)		UPI000013E1D8	385					SNV	ACP6,missense_variant,p.Pro385Leu,ENST00000369238,NM_016361.4;ACP6,intron_variant,,ENST00000609196,;ACP6,non_coding_transcript_exon_variant,,ENST00000460583,;ACP6,downstream_gene_variant,,ENST00000487562,;	uc001epr.2	c.1154C>T	1602/6926	2	2			c.1154C>T						1	SNP	c.(1153-1155)CCG>CTG	32	32			ovary(4)	4	Broad	acid phosphatase 6, lysophosphatidic precursor			147119358		0.522	ENSG00000162836	165	g.chr1:147119358G>A	lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding							154.717998	KEEP	25	26	-1	40	42	25	26	-1	156.23586	40	42	0.384615	1	0	0	0	0	1	0	0	0	--	--		0	A				82	GBM-06-2558-TP	p.P385L	G	GCAACCTCTCGGCACCTGCTC	NM_016361	NP_057445	147119358	Q9NPH0	PPA6_HUMAN	0			10	1618	-	A	A	all_hematologic(923;0.0276)		Missense_Mutation	385						
ACPL2	0	broad.mit.edu	GRCh37	3	141006223	141006223	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286353.4:c.433G>T	p.Glu145Ter	p.E145*	ENST00000286353	NM_001037172.1	145	Gaa/Taa	0			1			T	E/*	uc003etu.2	protein_coding	YES	CCDS3116.1			433/1443									skin(1)	1	c.(433-435)GAA>TAA			hmmpanther:PTHR11567:SF110,hmmpanther:PTHR11567,Pfam_domain:PF00328,Superfamily_domains:SSF53254	acid phosphatase-like 2 precursor				ENSP00000286353		6-May									COSM2156049,COSM3408290	6-May	.		ENST00000286353	Transcript				extracellular region	acid phosphatase activity	ENSG00000155893	g.chr3:141006223G>T	26303			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,3,141006223,G,T&fts=all	E145*	--	--	1																																		ACPL2_uc003etv.2_Nonsense_Mutation_p.E145*|ACPL2_uc011bna.1_Nonsense_Mutation_p.E107*|ACPL2_uc011bnb.1_Nonsense_Mutation_p.E128*	1,1	1			p.E145*	NM_152282	NP_689495			1,1	ACPL2_HUMAN	ACPL2	HGNC	Q8TE99	ACPL2_HUMAN			D6RGE3_HUMAN,D6RE60_HUMAN,D6RDP0_HUMAN,D6R928_HUMAN,B7Z4T2_HUMAN		7	732	+			UPI0000048EC7	145					SNV	ACPL2,stop_gained,p.Glu136Ter,ENST00000508812,;ACPL2,stop_gained,p.Glu145Ter,ENST00000286353,NM_001037172.1;ACPL2,stop_gained,p.Glu145Ter,ENST00000393010,NM_152282.3;ACPL2,stop_gained,p.Glu129Ter,ENST00000393007,;ACPL2,stop_gained,p.Glu107Ter,ENST00000502783,NM_001282728.1;ACPL2,stop_gained,p.Glu128Ter,ENST00000504264,;ACPL2,stop_gained,p.Glu107Ter,ENST00000512457,;ACPL2,stop_gained,p.Glu145Ter,ENST00000505013,;RP11-438D8.2,intron_variant,,ENST00000507698,;ACPL2,non_coding_transcript_exon_variant,,ENST00000514263,;ACPL2,3_prime_UTR_variant,,ENST00000514880,;	uc003etu.2	c.433G>T	570/3281	5	2			c.433G>T						3	SNP	c.(433-435)GAA>TAA	46	46			skin(1)	1	Broad	acid phosphatase-like 2 precursor			141006223		0.493	ENSG00000155893	166	g.chr3:141006223G>T		extracellular region	acid phosphatase activity							214.985525	KEEP	32	56	0.363636364	87	96	32	56	0.363636364	221.96483	87	96	0.319502	1	0	0	0	0	0	1	0	0	--	--		0	T			ACPL2_uc003etv.2_Nonsense_Mutation_p.E145*|ACPL2_uc011bna.1_Nonsense_Mutation_p.E107*|ACPL2_uc011bnb.1_Nonsense_Mutation_p.E128*	160	GBM-19-1790-TP	p.E145*	G	AGCCTCTTTCGAAAGCCCCTT	NM_152282	NP_689495	141006223	Q8TE99	ACPL2_HUMAN	0			7	732	+	T	T			Nonsense_Mutation	145						
ACPT	0	broad.mit.edu	GRCh37	19	51295361	51295361	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01	TCGA-41-2572-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000270593.1:c.482G>A	p.Arg161Gln	p.R161Q	ENST00000270593	NM_033068.2	161	cGa/cAa	0			1			A	R/Q	uc002pta.1	protein_coding	YES	CCDS12802.1			482/1281										0	c.(481-483)CGA>CAA			Gene3D:3.40.50.1240,Pfam_domain:PF00328,hmmpanther:PTHR11567,hmmpanther:PTHR11567:SF117,Superfamily_domains:SSF53254	testicular acid phosphatase precursor				ENSP00000270593		11-May	5.79E-05		0.00114					9.30E-05	rs751444282,COSM3404486	11-May	common_variant		ENST00000270593	Transcript				integral to membrane	acid phosphatase activity	ENSG00000142513	g.chr19:51295361G>A	14376			MODERATE		2.155	medium	getma.org/?cm=msa&ty=f&p=PPAT_HUMAN&rb=31&re=338&var=R161Q	getma.org/pdb.php?prot=PPAT_HUMAN&from=31&to=338&var=R161Q	getma.org/?cm=var&var=hg19,19,51295361,G,A&fts=all	R161Q	--	--	1																																			0,1	1		probably_damaging(0.974)	p.R161Q	NM_033068	NP_149059		deleterious(0.02)	0,1	PPAT_HUMAN	ACPT	HGNC	Q9BZG2	PPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)			5	482	+		all_neural(266;0.057)	UPI0000048D54	161			Extracellular (Potential).		SNV	ACPT,missense_variant,p.Arg161Gln,ENST00000270593,NM_033068.2;ACPT,intron_variant,,ENST00000270594,;CTD-2568A17.8,downstream_gene_variant,,ENST00000594114,;	uc002pta.1	c.482G>A	482/1347	1	1			c.482G>A						19	SNP	c.(481-483)CGA>CAA	64	64				0	Broad	testicular acid phosphatase precursor			51295361		0.468	ENSG00000142513	168	g.chr19:51295361G>A		integral to membrane	acid phosphatase activity							13.836451	KEEP	3	4	-1	15	10	3	4	-1	15.752607	15	10	0.222222	1	0	0	0	0	1	0	0	0	--	--		0	A				251	GBM-41-2572-TP	p.R161Q	G	AGCTGTCCCCGATACCACGAG	NM_033068	NP_149059	51295361	Q9BZG2	PPAT_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	5	482	+	A	A		all_neural(266;0.057)	Missense_Mutation	161			Extracellular (Potential).			
ACPT			GRCh37	19	51295399	51295399	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0151-01	TCGA-06-0151-01																				ENST00000270593.1:c.520G>A	p.Glu174Lys	p.E174K	ENST00000270593	NM_033068.2	174	Gag/Aag	0																																																																																																																																																																																																																																												
ACRC	0	broad.mit.edu	GRCh37	X	70823913	70823913	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0646-01	TCGA-06-0646-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373695.1:c.786G>A	p.Ser262=	p.S262=	ENST00000373695		262	tcG/tcA	0			1			A	S	uc004eae.2	protein_coding	YES	CCDS35326.1			786/2076									ovary(3)	3	c.(784-786)TCG>TCA			Low_complexity_(Seg):seg,hmmpanther:PTHR23099,hmmpanther:PTHR23099:SF0	ACRC protein				ENSP00000362799		12-Jul									COSM3406576	12-Jul	.		ENST00000373695	Transcript				nucleus		ENSG00000147174	g.chrX:70823913G>A	15805			LOW								--	--	1																																		BCYRN1_uc011mpt.1_Intron	1	1			p.S262S	NM_052957	NP_443189			1	ACRC_HUMAN	ACRC	HGNC	Q96QF7	ACRC_HUMAN					8	1287	+	Renal(35;0.156)		UPI0000072023	262			Asp/Ser-rich.		SNV	ACRC,synonymous_variant,p.=,ENST00000373695,;ACRC,synonymous_variant,p.=,ENST00000373696,NM_052957.4;	uc004eae.2	c.786G>A	1323/3213	2	2			c.786G>A						23	SNP	c.(784-786)TCG>TCA	33	33			ovary(3)	3	Broad	ACRC protein			70823913		0.552	ENSG00000147174	171	g.chrX:70823913G>A		nucleus								-14.212216	KEEP	7	5	-1	119	106	7	5	-1	10.341318	119	106	0.045045	1	0	0	0	0	0	0	1	0	--	--		0	A			BCYRN1_uc011mpt.1_Intron	60	GBM-06-0646-TP	p.S262S	G	GTGATGATTCGGAAGCTCCCG	NM_052957	NP_443189	70823913	Q96QF7	ACRC_HUMAN	0			8	1287	+	A	A	Renal(35;0.156)		Silent	262			Asp/Ser-rich.			
ACRC	0	broad.mit.edu	GRCh37	X	70823943	70823943	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0646-01	TCGA-06-0646-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373695.1:c.816G>A	p.Ser272=	p.S272=	ENST00000373695		272	tcG/tcA	0	A:0		1			A	S	uc004eae.2	protein_coding	YES	CCDS35326.1			816/2076									ovary(3)	3	c.(814-816)TCG>TCA			Low_complexity_(Seg):seg,hmmpanther:PTHR23099,hmmpanther:PTHR23099:SF0	ACRC protein			A:0.0001	ENSP00000362799		12-Jul									rs368020183,COSM3406577	12-Jul	.		ENST00000373695	Transcript				nucleus		ENSG00000147174	g.chrX:70823943G>A	15805			LOW								--	--	1																																		BCYRN1_uc011mpt.1_Intron	0,1	1			p.S272S	NM_052957	NP_443189			0,1	ACRC_HUMAN	ACRC	HGNC	Q96QF7	ACRC_HUMAN					8	1317	+	Renal(35;0.156)		UPI0000072023	272			Asp/Ser-rich.		SNV	ACRC,synonymous_variant,p.=,ENST00000373695,;ACRC,synonymous_variant,p.=,ENST00000373696,NM_052957.4;ACRC,upstream_gene_variant,,ENST00000471950,;	uc004eae.2	c.816G>A	1353/3213	1	1			c.816G>A						23	SNP	c.(814-816)TCG>TCA	62	62			ovary(3)	3	Broad	ACRC protein			70823943		0.557	ENSG00000147174	171	g.chrX:70823943G>A		nucleus								-25.627138	KEEP	5	5	-1	147	116	5	5	-1	12.370916	147	116	0.041667	1	0	0	0	0	0	0	1	0	--	--		0	A			BCYRN1_uc011mpt.1_Intron	60	GBM-06-0646-TP	p.S272S	G	GTGATGATTCGGAAGCTCCCG	NM_052957	NP_443189	70823943	Q96QF7	ACRC_HUMAN	0			8	1317	+	A	A	Renal(35;0.156)		Silent	272			Asp/Ser-rich.			
ACRC	0	broad.mit.edu	GRCh37	X	70830591	70830591	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-27-1835-01	TCGA-27-1835-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373695.1:c.1672A>G	p.Ser558Gly	p.S558G	ENST00000373695		558	Agc/Ggc	0			1			G	S/G	uc004eae.2	protein_coding	YES	CCDS35326.1			1672/2076									ovary(3)	3	c.(1672-1674)AGC>GGC			hmmpanther:PTHR23099,hmmpanther:PTHR23099:SF0,Pfam_domain:PF10263,SMART_domains:SM00731	ACRC protein				ENSP00000362799		12-Oct	8.24E-06	0.000121							rs765633095,COSM2157260	12-Oct	.		ENST00000373695	Transcript				nucleus		ENSG00000147174	g.chrX:70830591A>G	15805			MODERATE		1.32	low	getma.org/?cm=msa&ty=f&p=ACRC_HUMAN&rb=522&re=678&var=S558G	NA	getma.org/?cm=var&var=hg19,X,70830591,A,G&fts=all	S558G	--	--	1																																		BCYRN1_uc011mpt.1_Intron	0,1	1		unknown(0)	p.S558G	NM_052957	NP_443189			0,1	ACRC_HUMAN	ACRC	HGNC	Q96QF7	ACRC_HUMAN					11	2173	+	Renal(35;0.156)		UPI0000072023	558					SNV	ACRC,missense_variant,p.Ser558Gly,ENST00000373695,;ACRC,missense_variant,p.Ser558Gly,ENST00000373696,NM_052957.4;ACRC,non_coding_transcript_exon_variant,,ENST00000471950,;	uc004eae.2	c.1672A>G	2209/3213	3	3			c.1672A>G						23	SNP	c.(1672-1674)AGC>GGC	60	60			ovary(3)	3	Broad	ACRC protein			70830591		0.493	ENSG00000147174	171	g.chrX:70830591A>G		nucleus								60.332112	KEEP	13	12	-1	18	27	13	12	-1	61.649987	18	27	0.344262	1	0	0	0	0	1	0	0	0	--	--		0	G			BCYRN1_uc011mpt.1_Intron	194	GBM-27-1835-TP	p.S558G	A	TGGCTTATGCAGCACTGGTGA	NM_052957	NP_443189	70830591	Q96QF7	ACRC_HUMAN	0			11	2173	+	G	G	Renal(35;0.156)		Missense_Mutation	558						
ACRC	0	broad.mit.edu	GRCh37	X	70830624	70830624	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1986-01	TCGA-32-1986-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373695.1:c.1705C>T	p.Arg569Cys	p.R569C	ENST00000373695		569	Cgc/Tgc	0			1			T	R/C	uc004eae.2	protein_coding	YES	CCDS35326.1			1705/2076									ovary(3)	3	c.(1705-1707)CGC>TGC			hmmpanther:PTHR23099,hmmpanther:PTHR23099:SF0,Pfam_domain:PF10263,SMART_domains:SM00731	ACRC protein				ENSP00000362799		12-Oct									COSM3406580	12-Oct	.		ENST00000373695	Transcript				nucleus		ENSG00000147174	g.chrX:70830624C>T	15805			MODERATE		1.74	low	getma.org/?cm=msa&ty=f&p=ACRC_HUMAN&rb=522&re=678&var=R569C	NA	getma.org/?cm=var&var=hg19,X,70830624,C,T&fts=all	R569C	--	--	1																																		BCYRN1_uc011mpt.1_Intron	1	1		unknown(0)	p.R569C	NM_052957	NP_443189			1	ACRC_HUMAN	ACRC	HGNC	Q96QF7	ACRC_HUMAN					11	2206	+	Renal(35;0.156)		UPI0000072023	569					SNV	ACRC,missense_variant,p.Arg569Cys,ENST00000373695,;ACRC,missense_variant,p.Arg569Cys,ENST00000373696,NM_052957.4;ACRC,non_coding_transcript_exon_variant,,ENST00000471950,;	uc004eae.2	c.1705C>T	2242/3213	1	1			c.1705C>T						23	SNP	c.(1705-1707)CGC>TGC	4	4			ovary(3)	3	Broad	ACRC protein			70830624		0.517	ENSG00000147174	171	g.chrX:70830624C>T		nucleus								36.027533	KEEP	7	11	-1	9	9	7	11	-1	36.038065	9	9	0.52381	1	0	0	0	0	1	0	0	0	--	--		0	T			BCYRN1_uc011mpt.1_Intron	233	GBM-32-1986-TP	p.R569C	C	AAAGTGGCGGCGCTTTGCCAA	NM_052957	NP_443189	70830624	Q96QF7	ACRC_HUMAN	0			11	2206	+	T	T	Renal(35;0.156)		Missense_Mutation	569						
ACRC			GRCh37	X	70824283	70824283	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000373695.1:c.1156C>T	p.Pro386Ser	p.P386S	ENST00000373695		386	Cct/Tct	0																																																																																																																																																																																																																																												
ACRV1	0	broad.mit.edu	GRCh37	11	125542539	125542539	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-2620-01	TCGA-19-2620-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000533904.1:c.747G>A	p.Thr249=	p.T249=	ENST00000533904		249	acG/acA	0	T:0	T:0	1	T:0		T	T	uc001qcs.2	protein_coding	YES	CCDS8460.1			747/798										0	c.(745-747)ACG>ACA			hmmpanther:PTHR17571,hmmpanther:PTHR17571:SF31	acrosomal vesicle protein 1 isoform a precursor		T:0.001	T:0.0001	ENSP00000432816	T:0	4-Apr	2.47E-05					4.50E-05			rs370037825,COSM3397523	4-Apr	.		ENST00000533904	Transcript		T:0.0002	multicellular organismal development	acrosomal vesicle		ENSG00000134940	g.chr11:125542539C>T	127			LOW								--	--	1																																		CHEK1_uc001qcf.3_Intron|ACRV1_uc001qck.2_Silent_p.T160T|ACRV1_uc001qcl.2_Silent_p.T179T|ACRV1_uc001qcm.2_Silent_p.T105T|ACRV1_uc001qcn.2_Silent_p.T194T|ACRV1_uc001qco.2_Silent_p.T154T|ACRV1_uc001qcp.2_Silent_p.T65T|ACRV1_uc001qcq.2_Silent_p.T139T|ACRV1_uc001qcr.2_Silent_p.T230T	0,1	1			p.T249T	NM_001612	NP_001603	T:0		0,1	ASPX_HUMAN	ACRV1	HGNC	P26436	ASPX_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)			4	1014	-	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	UPI000012615C	249					SNV	ACRV1,synonymous_variant,p.=,ENST00000533904,;ACRV1,synonymous_variant,p.=,ENST00000453509,;ACRV1,synonymous_variant,p.=,ENST00000315608,NM_020069.4,NM_001612.5;ACRV1,synonymous_variant,p.=,ENST00000445562,;ACRV1,synonymous_variant,p.=,ENST00000348856,;ACRV1,synonymous_variant,p.=,ENST00000345274,;ACRV1,synonymous_variant,p.=,ENST00000425431,;ACRV1,synonymous_variant,p.=,ENST00000530048,;ACRV1,synonymous_variant,p.=,ENST00000527795,NM_020107.4,NM_020108.4;ACRV1,synonymous_variant,p.=,ENST00000353070,;CHEK1,intron_variant,,ENST00000428830,NM_001114121.2;CHEK1,intron_variant,,ENST00000498122,;	uc001qcs.2	c.747G>A	1090/2212	2	2			c.747G>A						11	SNP	c.(745-747)ACG>ACA	25	25				0	Broad	acrosomal vesicle protein 1 isoform a precursor			125542539		0.448	ENSG00000134940	172	g.chr11:125542539C>T	multicellular organismal development	acrosomal vesicle								150.319288	KEEP	42	15	-1	80	36	42	15	-1	154.611621	80	36	0.32716	1	0	0	0	0	0	0	1	0	--	--		0	T			CHEK1_uc001qcf.3_Intron|ACRV1_uc001qck.2_Silent_p.T160T|ACRV1_uc001qcl.2_Silent_p.T179T|ACRV1_uc001qcm.2_Silent_p.T105T|ACRV1_uc001qcn.2_Silent_p.T194T|ACRV1_uc001qco.2_Silent_p.T154T|ACRV1_uc001qcp.2_Silent_p.T65T|ACRV1_uc001qcq.2_Silent_p.T139T|ACRV1_uc001qcr.2_Silent_p.T230T	162	GBM-19-2620-TP	p.T249T	C	TTTGCATCCTCGTTCCATGGG	NM_001612	NP_001603	125542539	P26436	ASPX_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)	4	1014	-	T	T	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	Silent	249						
ACSF2	80221	broad.mit.edu	GRCh37	17	48540562	48540562	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0188-01	TCGA-06-0188-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300441.4:c.838A>G	p.Ile280Val	p.I280V	ENST00000300441	NM_025149.4	280	Att/Gtt	0			1			G	I/V	uc002iqu.2	protein_coding	YES	CCDS11567.1			838/1848										0	c.(838-840)ATT>GTT			hmmpanther:PTHR24095,Pfam_domain:PF00501,Gene3D:3.40.50.980,Superfamily_domains:SSF56801	acyl-CoA synthetase family member 2 precursor				ENSP00000300441		16-Jul									COSM2150575	16-Jul	.		ENST00000300441	Transcript			fatty acid metabolic process	mitochondrion	ATP binding|ligase activity	ENSG00000167107	g.chr17:48540562A>G	26101			MODERATE		1.83	low	getma.org/?cm=msa&ty=f&p=ACSF2_HUMAN&rb=101&re=540&var=I280V	getma.org/pdb.php?prot=ACSF2_HUMAN&from=101&to=540&var=I280V	getma.org/?cm=var&var=hg19,17,48540562,A,G&fts=all	I280V	--	--	1																																		ACSF2_uc010wml.1_Missense_Mutation_p.I237V|ACSF2_uc010wmm.1_Missense_Mutation_p.I305V|ACSF2_uc010wmn.1_Missense_Mutation_p.I267V|ACSF2_uc010wmo.1_Missense_Mutation_p.I120V	1	1		possibly_damaging(0.498)	p.I280V	NM_025149	NP_079425		tolerated(0.09)	1	ACSF2_HUMAN	ACSF2	HGNC	Q96CM8	ACSF2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		B4DUF5_HUMAN		7	942	+	Breast(11;1.93e-18)		UPI0000049DEF	280					SNV	ACSF2,missense_variant,p.Ile305Val,ENST00000427954,;ACSF2,missense_variant,p.Ile280Val,ENST00000300441,NM_025149.4;ACSF2,missense_variant,p.Ile267Val,ENST00000502667,;ACSF2,missense_variant,p.Ile237Val,ENST00000504392,;ACSF2,missense_variant,p.Ile120Val,ENST00000541920,;CHAD,downstream_gene_variant,,ENST00000508540,NM_001267.2;CHAD,downstream_gene_variant,,ENST00000258969,;ACSF2,downstream_gene_variant,,ENST00000506582,;CHAD,downstream_gene_variant,,ENST00000506187,;ACSF2,upstream_gene_variant,,ENST00000509806,;ACSF2,upstream_gene_variant,,ENST00000513544,;ACSF2,3_prime_UTR_variant,,ENST00000510410,;ACSF2,intron_variant,,ENST00000513101,;ACSF2,downstream_gene_variant,,ENST00000506052,;ACSF2,upstream_gene_variant,,ENST00000508245,;ACSF2,upstream_gene_variant,,ENST00000507769,;ACSF2,downstream_gene_variant,,ENST00000503408,;ACSF2,downstream_gene_variant,,ENST00000504945,;ACSF2,upstream_gene_variant,,ENST00000510262,;ACSF2,downstream_gene_variant,,ENST00000570356,;	uc002iqu.2	c.838A>G	942/2235	4	4			c.838A>G						17	SNP	c.(838-840)ATT>GTT	25	25				0	Broad	acyl-CoA synthetase family member 2 precursor			48540562		0.597	ENSG00000167107	175	g.chr17:48540562A>G	fatty acid metabolic process	mitochondrion	ATP binding|ligase activity							351.281617	KEEP	53	76	-1	122	115	53	76	-1	355.864428	122	115	0.367893	1	0	0	0	0	1	0	0	0	--	--		0	G			ACSF2_uc010wml.1_Missense_Mutation_p.I237V|ACSF2_uc010wmm.1_Missense_Mutation_p.I305V|ACSF2_uc010wmn.1_Missense_Mutation_p.I267V|ACSF2_uc010wmo.1_Missense_Mutation_p.I120V	41	GBM-06-0188-TP	p.I280V	A	CCACTACAACATTGTCAACAA	NM_025149	NP_079425	48540562	Q96CM8	ACSF2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		7	942	+	G	G	Breast(11;1.93e-18)		Missense_Mutation	280						
ACSL1	0	broad.mit.edu	GRCh37	4	185681554	185681554	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-41-2572-01	TCGA-41-2572-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281455.2:c.1739G>C	p.Ser580Thr	p.S580T	ENST00000281455	NM_001995.2	580	aGt/aCt	0			1			G	S/T	uc003iww.2	protein_coding		CCDS3839.1			1739/2097									ovary(2)	2	c.(1738-1740)AGT>ACT			Superfamily_domains:SSF56801,hmmpanther:PTHR24096:SF167,hmmpanther:PTHR24096	acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)			ENSP00000281455		18/21									COSM3409194	18/21	.		ENST00000281455	Transcript			digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	ENSG00000151726	g.chr4:185681554C>G	3569			MODERATE		3.095	medium	getma.org/?cm=msa&ty=f&p=ACSL1_HUMAN&rb=122&re=588&var=S580T	getma.org/pdb.php?prot=ACSL1_HUMAN&from=122&to=588&var=S580T	getma.org/?cm=var&var=hg19,4,185681554,C,G&fts=all	S580T	--	--	1																																		ACSL1_uc011ckm.1_Missense_Mutation_p.S409T|ACSL1_uc003iwt.1_Missense_Mutation_p.S580T|ACSL1_uc003iwu.1_Missense_Mutation_p.S580T|ACSL1_uc011ckn.1_Missense_Mutation_p.S546T|ACSL1_uc003iws.1_Missense_Mutation_p.S140T	1			possibly_damaging(0.68)	p.S580T	NM_001995	NP_001986		deleterious(0)	1	ACSL1_HUMAN	ACSL1	HGNC	P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	B7Z3Z9_HUMAN		18	2033	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	UPI000004AC12	580			Cytoplasmic (Potential).		SNV	ACSL1,missense_variant,p.Ser580Thr,ENST00000515030,NM_001286708.1;ACSL1,missense_variant,p.Ser580Thr,ENST00000281455,NM_001995.2;ACSL1,missense_variant,p.Ser409Thr,ENST00000454703,NM_001286712.1;ACSL1,missense_variant,p.Ser409Thr,ENST00000437665,;ACSL1,missense_variant,p.Ser546Thr,ENST00000507295,NM_001286711.1;ACSL1,missense_variant,p.Ser580Thr,ENST00000513317,NM_001286710.1;ACSL1,missense_variant,p.Ser176Thr,ENST00000503407,;ACSL1,missense_variant,p.Ser580Thr,ENST00000504342,;ACSL1,3_prime_UTR_variant,,ENST00000506733,;ACSL1,upstream_gene_variant,,ENST00000513001,;	uc003iww.2	c.1739G>C	1950/3832	3	3			c.1739G>C						4	SNP	c.(1738-1740)AGT>ACT	63	63			ovary(2)	2	Broad	acyl-CoA synthetase long-chain family member 1		Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	185681554		0.443	ENSG00000151726	177	g.chr4:185681554C>G	digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity							1165.057623	KEEP	160	193	-1	229	252	160	193	-1	1169.270374	229	252	0.420079	1	0	0	0	0	1	0	0	0	--	--		0	G			ACSL1_uc011ckm.1_Missense_Mutation_p.S409T|ACSL1_uc003iwt.1_Missense_Mutation_p.S580T|ACSL1_uc003iwu.1_Missense_Mutation_p.S580T|ACSL1_uc011ckn.1_Missense_Mutation_p.S546T|ACSL1_uc003iws.1_Missense_Mutation_p.S140T	251	GBM-41-2572-TP	p.S580T	C	AACAGGCTCACTTCGCATGTA	NM_001995	NP_001986	185681554	P33121	ACSL1_HUMAN	0		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	18	2033	-	G	G		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	Missense_Mutation	580			Cytoplasmic (Potential).			
ACSL3	0	broad.mit.edu	GRCh37	2	223781199	223781199	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-41-5651-01	TCGA-41-5651-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357430.3:c.541A>G	p.Met181Val	p.M181V	ENST00000357430	NM_004457.3	181	Atg/Gtg	0			1			G	M/V	uc002vni.2	protein_coding	YES	CCDS2455.1			541/2163	T		ETV1		prostate				ovary(2)	2	c.(541-543)ATG>GTG			Gene3D:3.40.50.980,Pfam_domain:PF00501,hmmpanther:PTHR24096,hmmpanther:PTHR24096:SF157,Superfamily_domains:SSF56801	acyl-CoA synthetase long-chain family member 3	Icosapent(DB00159)			ENSP00000350012		17-May									COSM3407610,COSM3407611	17-May	.		ENST00000357430	Transcript			long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	ENSG00000123983	g.chr2:223781199A>G	3570			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=ACSL3_HUMAN&rb=136&re=612&var=M181V	getma.org/pdb.php?prot=ACSL3_HUMAN&from=136&to=612&var=M181V	getma.org/?cm=var&var=hg19,2,223781199,A,G&fts=all	M181V	--	--	1																																		ACSL3_uc002vnj.2_Missense_Mutation_p.M181V	1,1	1		benign(0.217)	p.M181V	NM_004457	NP_004448		tolerated(0.07)	1,1	ACSL3_HUMAN	ACSL3	HGNC	O95573	ACSL3_HUMAN		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Q6PIM8_HUMAN,F5H062_HUMAN,F5GWH2_HUMAN,C9JC11_HUMAN,B3KMA6_HUMAN		5	992	+		Renal(207;0.0183)	UPI0000074742	181			Cytoplasmic (Potential).		SNV	ACSL3,missense_variant,p.Met181Val,ENST00000357430,NM_004457.3;ACSL3,missense_variant,p.Met181Val,ENST00000392066,NM_203372.1;ACSL3,missense_variant,p.Met29Val,ENST00000540115,;ACSL3,upstream_gene_variant,,ENST00000421680,;AC097461.4,downstream_gene_variant,,ENST00000446709,;ACSL3,non_coding_transcript_exon_variant,,ENST00000542810,;ACSL3,upstream_gene_variant,,ENST00000463813,;	uc002vni.2	c.541A>G	1072/5679	4	4			c.541A>G	T		ETV1		prostate	2	SNP	c.(541-543)ATG>GTG	17	17			ovary(2)	2	Broad	acyl-CoA synthetase long-chain family member 3		Icosapent(DB00159)	223781199		0.383	ENSG00000123983	178	g.chr2:223781199A>G	long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding							101.276008	KEEP	13	21	-1	17	25	13	21	-1	101.361473	17	25	0.460317	1	0	0	0	0	1	0	0	0	--	--		0	G			ACSL3_uc002vnj.2_Missense_Mutation_p.M181V	258	GBM-41-5651-TP	p.M181V	A	GGCGTGTTTTATGTATAATTT	NM_004457	NP_004448	223781199	O95573	ACSL3_HUMAN	0		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	5	992	+	G	G		Renal(207;0.0183)	Missense_Mutation	181			Cytoplasmic (Potential).			
ACSL4	2182		GRCh37	X	108924259	108924259	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000340800.2:c.746C>A	p.Ser249Ter	p.S249*	ENST00000340800	NM_022977.2	249	tCa/tAa	0																																																																																																																																																																																																																																												
ACSM1	116285	broad.mit.edu	GRCh37	16	20702408	20702408	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0173-01	TCGA-06-0173-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307493.4:c.103T>C	p.Phe35Leu	p.F35L	ENST00000307493	NM_052956.2	35	Ttt/Ctt	0			1			G	F/L	uc002dhm.1	protein_coding	YES	CCDS10587.1			103/1734									central_nervous_system(1)|skin(1)	2	c.(103-105)TTT>CTT			hmmpanther:PTHR24095,hmmpanther:PTHR24095:SF150	acyl-CoA synthetase medium-chain family member				ENSP00000301956		13-Jan									COSM3402141	13-Jan	.		ENST00000307493	Transcript			benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	ENSG00000166743	g.chr16:20702408A>G	18049			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=ACSM1_HUMAN&rb=1&re=86&var=F35L	NA	getma.org/?cm=var&var=hg19,16,20702408,A,G&fts=all	F35L	--	--	1																																		ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Missense_Mutation_p.F35L	1	1		benign(0)	p.F35L	NM_052956	NP_443188		tolerated(0.44)	1	ACSM1_HUMAN	ACSM1	HGNC	Q08AH1	ACSM1_HUMAN			E5RFK0_HUMAN		1	171	-			UPI00000558D0	35					SNV	ACSM1,missense_variant,p.Phe35Leu,ENST00000307493,NM_052956.2;ACSM1,missense_variant,p.Phe35Leu,ENST00000520010,;ACSM1,missense_variant,p.Phe35Leu,ENST00000523065,;ACSM1,5_prime_UTR_variant,,ENST00000219151,;ACSM3,intron_variant,,ENST00000561584,;ACSM3,intron_variant,,ENST00000568235,;ACSM3,intron_variant,,ENST00000501740,;ACSM1,missense_variant,p.Phe35Leu,ENST00000519745,;	uc002dhm.1	c.103T>C	171/2051	3	3			c.103T>C						16	SNP	c.(103-105)TTT>CTT	16	16			central_nervous_system(1)|skin(1)	2	Broad	acyl-CoA synthetase medium-chain family member			20702408		0.498	ENSG00000166743	182	g.chr16:20702408A>G	benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding							-56.167195	KEEP	4	2	-1	198	167	4	2	-1	11.650847	198	167	0.019157	1	0	0	0	0	1	0	0	0	--	--		0	G			ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Missense_Mutation_p.F35L	36	GBM-06-0173-TP	p.F35L	A	GGGGCTCCAAATTCTGATAAA	NM_052956	NP_443188	20702408	Q08AH1	ACSM1_HUMAN	0			1	171	-	G	G			Missense_Mutation	35						
ACSM2A	0	broad.mit.edu	GRCh37	16	20492162	20492162	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000219054.6:c.1428G>A	p.Ser476=	p.S476=	ENST00000219054		476	tcG/tcA	0			1			A	S	uc010bwe.2	protein_coding		CCDS32401.1			1428/1734									skin(2)|breast(1)	3	c.(1426-1428)TCG>TCA			hmmpanther:PTHR24095,hmmpanther:PTHR24095:SF140,Gene3D:3.30.300.30,Superfamily_domains:SSF56801	acyl-CoA synthetase medium-chain family member				ENSP00000219054		13/15	4.12E-05			0.000116		6.00E-05			rs773909818,COSM2153670	13/15	.		ENST00000219054	Transcript			fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	ENSG00000183747	g.chr16:20492162G>A	32017			LOW								--	--	1																																		ACSM2A_uc010vax.1_Silent_p.S397S|ACSM2A_uc002dhf.3_Silent_p.S476S|ACSM2A_uc002dhg.3_Silent_p.S476S|ACSM2A_uc010vay.1_Silent_p.S397S|ACSM2A_uc002dhh.3_Silent_p.S106S	0,1				p.S476S	NM_001010845	NP_001010845			0,1	ACS2A_HUMAN	ACSM2A	HGNC	Q08AH3	ACS2A_HUMAN			I3L438_HUMAN,I3L339_HUMAN,I3L2Y5_HUMAN,F5GWL3_HUMAN		13	1667	+			UPI0000251E27	476					SNV	ACSM2A,synonymous_variant,p.=,ENST00000573854,NM_001010845.2;ACSM2A,synonymous_variant,p.=,ENST00000536134,;ACSM2A,synonymous_variant,p.=,ENST00000396104,;ACSM2A,synonymous_variant,p.=,ENST00000575690,;ACSM2A,synonymous_variant,p.=,ENST00000219054,;ACSM2A,synonymous_variant,p.=,ENST00000417235,;ACSM2A,non_coding_transcript_exon_variant,,ENST00000575558,;ACSM2A,non_coding_transcript_exon_variant,,ENST00000576101,;ACSM2A,non_coding_transcript_exon_variant,,ENST00000572843,;ACSM2A,non_coding_transcript_exon_variant,,ENST00000570698,;ACSM2A,upstream_gene_variant,,ENST00000576119,;	uc010bwe.2	c.1428G>A	1569/1988	1	1			c.1428G>A						16	SNP	c.(1426-1428)TCG>TCA	61	61			skin(2)|breast(1)	3	Broad	acyl-CoA synthetase medium-chain family member			20492162		0.567	ENSG00000183747	183	g.chr16:20492162G>A	fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding							132.492999	KEEP	28	18	-1	62	45	28	18	-1	135.060609	62	45	0.346774	1	0	0	0	0	0	0	1	0	--	--		0	A			ACSM2A_uc010vax.1_Silent_p.S397S|ACSM2A_uc002dhf.3_Silent_p.S476S|ACSM2A_uc002dhg.3_Silent_p.S476S|ACSM2A_uc010vay.1_Silent_p.S397S|ACSM2A_uc002dhh.3_Silent_p.S106S	120	GBM-12-0619-TP	p.S476S	G	TTGGACCCTCGGAGGTAGAGA	NM_001010845	NP_001010845	20492162	Q08AH3	ACS2A_HUMAN	0			13	1667	+	A	A			Silent	476						
ACSM2A	0	broad.mit.edu	GRCh37	16	20492203	20492203	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-28-5209-01	TCGA-28-5209-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000219054.6:c.1469A>T	p.Glu490Val	p.E490V	ENST00000219054		490	gAg/gTg	0			1			T	E/V	uc010bwe.2	protein_coding		CCDS32401.1			1469/1734									skin(2)|breast(1)	3	c.(1468-1470)GAG>GTG			hmmpanther:PTHR24095,hmmpanther:PTHR24095:SF140,Gene3D:3.30.300.30,Pfam_domain:PF13193,Superfamily_domains:SSF56801	acyl-CoA synthetase medium-chain family member				ENSP00000219054		13/15									COSM3402138	13/15	.		ENST00000219054	Transcript			fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	ENSG00000183747	g.chr16:20492203A>T	32017			MODERATE		3.395	medium	getma.org/?cm=msa&ty=f&p=ACS2A_HUMAN&rb=82&re=493&var=E490V	getma.org/pdb.php?prot=ACS2A_HUMAN&from=82&to=493&var=E490V	getma.org/?cm=var&var=hg19,16,20492203,A,T&fts=all	E490V	--	--	1																																		ACSM2A_uc010vax.1_Missense_Mutation_p.E411V|ACSM2A_uc002dhf.3_Missense_Mutation_p.E490V|ACSM2A_uc002dhg.3_Missense_Mutation_p.E490V|ACSM2A_uc010vay.1_Missense_Mutation_p.E411V|ACSM2A_uc002dhh.3_Missense_Mutation_p.E120V	1			possibly_damaging(0.739)	p.E490V	NM_001010845	NP_001010845		deleterious(0)	1	ACS2A_HUMAN	ACSM2A	HGNC	Q08AH3	ACS2A_HUMAN			I3L438_HUMAN,I3L339_HUMAN,I3L2Y5_HUMAN,F5GWL3_HUMAN		13	1708	+			UPI0000251E27	490					SNV	ACSM2A,missense_variant,p.Glu490Val,ENST00000573854,NM_001010845.2;ACSM2A,missense_variant,p.Glu262Val,ENST00000536134,;ACSM2A,missense_variant,p.Glu490Val,ENST00000396104,;ACSM2A,missense_variant,p.Glu490Val,ENST00000575690,;ACSM2A,missense_variant,p.Glu490Val,ENST00000219054,;ACSM2A,missense_variant,p.Glu411Val,ENST00000417235,;ACSM2A,non_coding_transcript_exon_variant,,ENST00000575558,;ACSM2A,non_coding_transcript_exon_variant,,ENST00000576101,;ACSM2A,non_coding_transcript_exon_variant,,ENST00000572843,;ACSM2A,non_coding_transcript_exon_variant,,ENST00000570698,;ACSM2A,upstream_gene_variant,,ENST00000576119,;	uc010bwe.2	c.1469A>T	1610/1988	2	2			c.1469A>T						16	SNP	c.(1468-1470)GAG>GTG	46	46			skin(2)|breast(1)	3	Broad	acyl-CoA synthetase medium-chain family member			20492203		0.527	ENSG00000183747	183	g.chr16:20492203A>T	fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding							180.390602	KEEP	40	41	-1	61	63	40	41	-1	182.055611	61	63	0.391304	1	0	0	0	0	1	0	0	0	--	--		0	T			ACSM2A_uc010vax.1_Missense_Mutation_p.E411V|ACSM2A_uc002dhf.3_Missense_Mutation_p.E490V|ACSM2A_uc002dhg.3_Missense_Mutation_p.E490V|ACSM2A_uc010vay.1_Missense_Mutation_p.E411V|ACSM2A_uc002dhh.3_Missense_Mutation_p.E120V	218	GBM-28-5209-TP	p.E490V	A	GCTGTGGTTGAGACGGCTGTG	NM_001010845	NP_001010845	20492203	Q08AH3	ACS2A_HUMAN	0			13	1708	+	T	T			Missense_Mutation	490						
ACSM2A	123876		GRCh37	16	20476938	20476938	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000573854.1:c.277G>A	p.Ala93Thr	p.A93T	ENST00000573854	NM_001010845.2	93	Gca/Aca	0																																																																																																																																																																																																																																												
ACSM2A	123876		GRCh37	16	20494409	20494409	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000573854.1:c.1539G>A	p.Ser513=	p.S513=	ENST00000573854	NM_001010845.2	513	tcG/tcA	0																																																																																																																																																																																																																																												
ACSM2B	348158	broad.mit.edu	GRCh37	16	20548636	20548636	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-02-2485-01	TCGA-02-2485-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329697.6:c.1678C>T	p.Arg560Ter	p.R560*	ENST00000329697	NM_001105069.1	560	Cga/Tga	0	A:0	A:0	1	A:0		A	R/*	uc002dhj.3	protein_coding	YES	CCDS10586.1			1678/1734									skin(3)|ovary(1)|central_nervous_system(1)	5	c.(1678-1680)CGA>TGA			Superfamily_domains:SSF56801,Gene3D:3.30.300.30,hmmpanther:PTHR24095:SF140,hmmpanther:PTHR24095	acyl-CoA synthetase medium-chain family member		A:0	A:0.0002	ENSP00000327453	A:0	14/14	0.000231	0.000288	8.64E-05	0.000116		0.00018		0.000666	rs373534792,COSM1376403	14/14	common_variant		ENST00000329697	Transcript		A:0.0002	fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	ENSG00000066813	g.chr16:20548636G>A	30931			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,16,20548636,G,A&fts=all	R560*	--	--	1																																		ACSM2B_uc002dhk.3_Nonsense_Mutation_p.R560*	0,1	1			p.R560*	NM_182617	NP_872423	A:0.001		0,1	ACS2B_HUMAN	ACSM2B	HGNC	Q68CK6	ACS2B_HUMAN			H3BTX9_HUMAN,H3BQ84_HUMAN,H3BP79_HUMAN,H3BM61_HUMAN		15	1888	-			UPI00001AFAA7	560					SNV	ACSM2B,stop_gained,p.Arg560Ter,ENST00000329697,NM_001105069.1;ACSM2B,stop_gained,p.Arg560Ter,ENST00000565232,;ACSM2B,stop_gained,p.Arg560Ter,ENST00000567001,NM_182617.3;ACSM2B,stop_gained,p.Arg481Ter,ENST00000565322,;ACSM2B,stop_gained,p.Arg93Ter,ENST00000568098,;ACSM2B,non_coding_transcript_exon_variant,,ENST00000566998,;ACSM2B,non_coding_transcript_exon_variant,,ENST00000564849,;ACSM2B,downstream_gene_variant,,ENST00000569131,;	uc002dhj.3	c.1678C>T	1847/2935	5	2			c.1678C>T						16	SNP	c.(1678-1680)CGA>TGA	45	45			skin(3)|ovary(1)|central_nervous_system(1)	5	Broad	acyl-CoA synthetase medium-chain family member			20548636		0.473	ENSG00000066813	184	g.chr16:20548636G>A	fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding							524.985474	KEEP	97	99	-1	160	146	97	99	-1	528.785961	160	146	0.400458	1	0	0	0	0	0	1	0	0	--	--		0	A			ACSM2B_uc002dhk.3_Nonsense_Mutation_p.R560*	7	GBM-02-2485-TP	p.R560*	G	AGTTTGGTTCGTTGAATTTTC	NM_182617	NP_872423	20548636	Q68CK6	ACS2B_HUMAN	0			15	1888	-	A	A			Nonsense_Mutation	560						
ACSM2B	348158	broad.mit.edu	GRCh37	16	20548638	20548638	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-2558-01	TCGA-06-2558-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329697.6:c.1676A>G	p.Gln559Arg	p.Q559R	ENST00000329697	NM_001105069.1	559	cAa/cGa	0			1			C	Q/R	uc002dhj.3	protein_coding	YES	CCDS10586.1			1676/1734									skin(3)|ovary(1)|central_nervous_system(1)	5	c.(1675-1677)CAA>CGA			Superfamily_domains:SSF56801,Gene3D:3.30.300.30,hmmpanther:PTHR24095:SF140,hmmpanther:PTHR24095	acyl-CoA synthetase medium-chain family member				ENSP00000327453		14/14									COSM3402139	14/14	.		ENST00000329697	Transcript			fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	ENSG00000066813	g.chr16:20548638T>C	30931			MODERATE		0.77	neutral	getma.org/?cm=msa&ty=f&p=ACS2B_HUMAN&rb=538&re=576&var=Q559R	getma.org/pdb.php?prot=ACS2B_HUMAN&from=538&to=576&var=Q559R	getma.org/?cm=var&var=hg19,16,20548638,T,C&fts=all	Q559R	--	--	1																																		ACSM2B_uc002dhk.3_Missense_Mutation_p.Q559R	1	1		benign(0.009)	p.Q559R	NM_182617	NP_872423		tolerated(0.8)	1	ACS2B_HUMAN	ACSM2B	HGNC	Q68CK6	ACS2B_HUMAN			H3BTX9_HUMAN,H3BQ84_HUMAN,H3BP79_HUMAN,H3BM61_HUMAN		15	1886	-			UPI00001AFAA7	559					SNV	ACSM2B,missense_variant,p.Gln559Arg,ENST00000329697,NM_001105069.1;ACSM2B,missense_variant,p.Gln559Arg,ENST00000565232,;ACSM2B,missense_variant,p.Gln559Arg,ENST00000567001,NM_182617.3;ACSM2B,missense_variant,p.Gln480Arg,ENST00000565322,;ACSM2B,missense_variant,p.Gln92Arg,ENST00000568098,;ACSM2B,non_coding_transcript_exon_variant,,ENST00000566998,;ACSM2B,non_coding_transcript_exon_variant,,ENST00000564849,;ACSM2B,downstream_gene_variant,,ENST00000569131,;	uc002dhj.3	c.1676A>G	1845/2935	3	3			c.1676A>G						16	SNP	c.(1675-1677)CAA>CGA	1	1			skin(3)|ovary(1)|central_nervous_system(1)	5	Broad	acyl-CoA synthetase medium-chain family member			20548638		0.483	ENSG00000066813	184	g.chr16:20548638T>C	fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding							146.651947	KEEP	41	52	-1	246	249	41	52	-1	201.949801	246	249	0.157895	1	0	0	0	0	1	0	0	0	--	--		0	C			ACSM2B_uc002dhk.3_Missense_Mutation_p.Q559R	82	GBM-06-2558-TP	p.Q559R	T	TTTGGTTCGTTGAATTTTCCC	NM_182617	NP_872423	20548638	Q68CK6	ACS2B_HUMAN	0			15	1886	-	C	C			Missense_Mutation	559						
ACSM2B	0	broad.mit.edu	GRCh37	16	20570756	20570756	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs74479331		TCGA-27-2519-01	TCGA-27-2519-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329697.6:c.191T>C	p.Leu64Pro	p.L64P	ENST00000329697	NM_001105069.1	64	cTc/cCc	0			1			G	L/P	uc002dhj.3	protein_coding	YES	CCDS10586.1			191/1734									skin(3)|ovary(1)|central_nervous_system(1)	5	c.(190-192)CTC>CCC			Superfamily_domains:SSF56801,Gene3D:3.40.50.980,hmmpanther:PTHR24095:SF140,hmmpanther:PTHR24095	acyl-CoA synthetase medium-chain family member				ENSP00000327453		14-Mar	0.00102	0.000201	0.00027	0.000355	0.000494	0.000372		0.00359	rs74479331,COSM968100	14-Mar	common_variant		ENST00000329697	Transcript			fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	ENSG00000066813	g.chr16:20570756A>G	30931			MODERATE		-0.895	neutral	getma.org/?cm=msa&ty=f&p=ACS2B_HUMAN&rb=1&re=81&var=L64P	getma.org/pdb.php?prot=ACS2B_HUMAN&from=1&to=81&var=L64P	getma.org/?cm=var&var=hg19,16,20570756,A,G&fts=all	L64P	--	--	1																																		ACSM2B_uc002dhk.3_Missense_Mutation_p.L64P|ACSM2B_uc010bwf.1_Missense_Mutation_p.L64P	0,1	1		benign(0)	p.L64P	NM_182617	NP_872423		tolerated(1)	0,1	ACS2B_HUMAN	ACSM2B	HGNC	Q68CK6	ACS2B_HUMAN			H3BTX9_HUMAN,H3BQ84_HUMAN,H3BP79_HUMAN,H3BM61_HUMAN		4	401	-			UPI00001AFAA7	64					SNV	ACSM2B,missense_variant,p.Leu64Pro,ENST00000329697,NM_001105069.1;ACSM2B,missense_variant,p.Leu64Pro,ENST00000565232,;ACSM2B,missense_variant,p.Leu64Pro,ENST00000567001,NM_182617.3;ACSM2B,missense_variant,p.Leu64Pro,ENST00000414188,;ACSM2B,missense_variant,p.Leu64Pro,ENST00000566384,;ACSM2B,missense_variant,p.Leu64Pro,ENST00000569344,;ACSM2B,5_prime_UTR_variant,,ENST00000565322,;ACSM2B,5_prime_UTR_variant,,ENST00000568882,;ACSM2B,upstream_gene_variant,,ENST00000569163,;ACSM2B,missense_variant,p.Leu64Pro,ENST00000569327,;ACSM2B,non_coding_transcript_exon_variant,,ENST00000569364,;ACSM2B,non_coding_transcript_exon_variant,,ENST00000563943,;	uc002dhj.3	c.191T>C	360/2935	3	3			c.191T>C						16	SNP	c.(190-192)CTC>CCC	1	1			skin(3)|ovary(1)|central_nervous_system(1)	5	Broad	acyl-CoA synthetase medium-chain family member			20570756		0.512	ENSG00000066813	184	g.chr16:20570756A>G	fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding							-4.923969	KEEP	3	3	-1	33	35	3	3	-1	7.130577	33	35	0.052632	1	0	0	0	0	1	0	0	0	--	--		0	G			ACSM2B_uc002dhk.3_Missense_Mutation_p.L64P|ACSM2B_uc010bwf.1_Missense_Mutation_p.L64P	199	GBM-27-2519-TP	p.L64P	A	TGGGCTTGGGAGTCGCTTGCC	NM_182617	NP_872423	20570756	Q68CK6	ACS2B_HUMAN	0			4	401	-	G	G			Missense_Mutation	64						
ACSM2B	348158		GRCh37	16	20570670	20570670	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000329697.6:c.277G>A	p.Ala93Thr	p.A93T	ENST00000329697	NM_001105069.1	93	Gca/Aca	0																																																																																																																																																																																																																																												
ACSM2B	348158		GRCh37	16	20554273	20554273	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000329697.6:c.1472C>T	p.Thr491Met	p.T491M	ENST00000329697	NM_001105069.1	491	aCg/aTg	0																																																																																																																																																																																																																																												
ACSM3	6296	broad.mit.edu	GRCh37	16	20787173	20787173	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0137-01	TCGA-06-0137-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000289416.5:c.232C>A	p.Pro78Thr	p.P78T	ENST00000289416	NM_005622.3	78	Cct/Act	0			1			A	P/T	uc002dhr.2	protein_coding	YES	CCDS10589.1			232/1761									ovary(1)	1	c.(232-234)CCT>ACT			Gene3D:3.40.50.980,Pfam_domain:PF00501,hmmpanther:PTHR24095,hmmpanther:PTHR24095:SF139,Superfamily_domains:SSF56801	SA hypertension-associated homolog isoform 1				ENSP00000289416		14-Mar									COSM2149604,COSM2149605	14-Mar	.		ENST00000289416	Transcript			regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	ENSG00000005187	g.chr16:20787173C>A	10522			MODERATE		1.78	low	getma.org/?cm=msa&ty=f&p=ACSM3_HUMAN&rb=1&re=95&var=P78T	getma.org/pdb.php?prot=ACSM3_HUMAN&from=1&to=95&var=P78T	getma.org/?cm=var&var=hg19,16,20787173,C,A&fts=all	P78T	--	--	1																																		ACSM3_uc002dhq.2_Missense_Mutation_p.P78T|ACSM3_uc010vba.1_Missense_Mutation_p.P70T	1,1	1		benign(0.006)	p.P78T	NM_005622	NP_005613		deleterious(0.02)	1,1	ACSM3_HUMAN	ACSM3	HGNC	Q53FZ2	ACSM3_HUMAN			H3BVD5_HUMAN,H3BTG0_HUMAN,H3BT38_HUMAN,H3BR33_HUMAN		3	419	+			UPI0000251DAA	78					SNV	ACSM3,missense_variant,p.Pro78Thr,ENST00000289416,NM_005622.3;ACSM3,missense_variant,p.Pro33Thr,ENST00000450120,;ACSM3,missense_variant,p.Pro37Thr,ENST00000562251,;ACSM3,missense_variant,p.Pro78Thr,ENST00000440284,NM_202000.2;ACSM3,missense_variant,p.Pro78Thr,ENST00000561795,;ACSM3,missense_variant,p.Pro78Thr,ENST00000568235,;ERI2,downstream_gene_variant,,ENST00000300005,NM_080663.2;ACSM3,upstream_gene_variant,,ENST00000563914,;	uc002dhr.2	c.232C>A	707/2845	2	2			c.232C>A						16	SNP	c.(232-234)CCT>ACT	17	17			ovary(1)	1	Broad	SA hypertension-associated homolog isoform 1			20787173		0.403	ENSG00000005187	185	g.chr16:20787173C>A	regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding							204.338108	KEEP	32	44	0.578947368	54	62	32	44	0.578947368	206.220826	54	62	0.386905	1	0	0	0	0	1	0	0	0	--	--		0	A			ACSM3_uc002dhq.2_Missense_Mutation_p.P78T|ACSM3_uc010vba.1_Missense_Mutation_p.P70T	18	GBM-06-0137-TP	p.P78T	C	TGGAAAGAAACCTTCAAATCC	NM_005622	NP_005613	20787173	Q53FZ2	ACSM3_HUMAN	0			3	419	+	A	A			Missense_Mutation	78						
ACSM4	341392	broad.mit.edu	GRCh37	12	7476137	7476137	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-2558-01	TCGA-06-2558-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399422.4:c.1289G>C	p.Cys430Ser	p.C430S	ENST00000399422	NM_001080454.1	430	tGt/tCt	0			1			C	C/S	uc001qsx.1	protein_coding	YES	CCDS44825.1			1289/1743										0	c.(1288-1290)TGT>TCT			Gene3D:2.30.38.10,Pfam_domain:PF00501,hmmpanther:PTHR24095,hmmpanther:PTHR24095:SF127,Superfamily_domains:SSF56801	acyl-CoA synthetase medium-chain family member 4				ENSP00000382349		13-Sep									COSM3399093,COSM3399092	13-Sep	.		ENST00000399422	Transcript			fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	ENSG00000215009	g.chr12:7476137G>C	32016			MODERATE		-0.315	neutral	getma.org/?cm=msa&ty=f&p=ACSM4_HUMAN&rb=90&re=502&var=C430S	getma.org/pdb.php?prot=ACSM4_HUMAN&from=90&to=502&var=C430S	getma.org/?cm=var&var=hg19,12,7476137,G,C&fts=all	C430S	--	--	1																																			1,1	1		benign(0.034)	p.C430S	NM_001080454	NP_001073923		tolerated(0.17)	1,1	ACSM4_HUMAN	ACSM4	HGNC	P0C7M7	ACSM4_HUMAN					9	1289	+			UPI0000DD812A	430					SNV	ACSM4,missense_variant,p.Cys430Ser,ENST00000399422,NM_001080454.1;	uc001qsx.1	c.1289G>C	1337/2142	4	4			c.1289G>C						12	SNP	c.(1288-1290)TGT>TCT	33	33				0	Broad	acyl-CoA synthetase medium-chain family member 4			7476137		0.229	ENSG00000215009	186	g.chr12:7476137G>C	fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding							112.563333	KEEP	14	26	-1	40	30	14	26	-1	114.625393	40	30	0.34375	1	0	0	0	0	1	0	0	0	--	--		0	C				82	GBM-06-2558-TP	p.C430S	G	CGGCCCTTCTGTTTCTTCTCT	NM_001080454	NP_001073923	7476137	P0C7M7	ACSM4_HUMAN	0			9	1289	+	C	C			Missense_Mutation	430						
ACSM4	0	broad.mit.edu	GRCh37	12	7456944	7456944	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01	TCGA-19-5951-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399422.4:c.17G>A	p.Arg6His	p.R6H	ENST00000399422	NM_001080454.1	6	cGc/cAc	0			1			A	R/H	uc001qsx.1	protein_coding	YES	CCDS44825.1			17/1743										0	c.(16-18)CGC>CAC				acyl-CoA synthetase medium-chain family member 4				ENSP00000382349		13-Jan	0.000223			0.00314					rs772162110,COSM3399089,COSM3399088	13-Jan	common_variant		ENST00000399422	Transcript			fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	ENSG00000215009	g.chr12:7456944G>A	32016			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=ACSM4_HUMAN&rb=1&re=89&var=R6H	NA	getma.org/?cm=var&var=hg19,12,7456944,G,A&fts=all	R6H	--	--	1																																			0,1,1	1		benign(0.001)	p.R6H	NM_001080454	NP_001073923		tolerated(0.21)	0,1,1	ACSM4_HUMAN	ACSM4	HGNC	P0C7M7	ACSM4_HUMAN					1	17	+			UPI0000DD812A	6					SNV	ACSM4,missense_variant,p.Arg6His,ENST00000399422,NM_001080454.1;	uc001qsx.1	c.17G>A	65/2142	2	2			c.17G>A						12	SNP	c.(16-18)CGC>CAC	33	33				0	Broad	acyl-CoA synthetase medium-chain family member 4			7456944		0.468	ENSG00000215009	186	g.chr12:7456944G>A	fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding							222.497859	KEEP	30	50	-1	43	68	30	50	-1	223.341405	43	68	0.424419	1	0	0	0	0	1	0	0	0	--	--		0	A				171	GBM-19-5951-TP	p.R6H	G	ATTTTTTTCCGCTACCAGACA	NM_001080454	NP_001073923	7456944	P0C7M7	ACSM4_HUMAN	0			1	17	+	A	A			Missense_Mutation	6						
ACSM4	0	broad.mit.edu	GRCh37	12	7477186	7477186	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1837-01	TCGA-27-1837-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399422.4:c.1528C>T	p.Arg510Cys	p.R510C	ENST00000399422	NM_001080454.1	510	Cgc/Tgc	0	T:0.0003	T:0	1	T:0		T	R/C	uc001qsx.1	protein_coding	YES	CCDS44825.1			1528/1743										0	c.(1528-1530)CGC>TGC			Gene3D:3.30.300.30,Pfam_domain:PF13193,hmmpanther:PTHR24095,hmmpanther:PTHR24095:SF127,Superfamily_domains:SSF56801	acyl-CoA synthetase medium-chain family member 4		T:0	T:0.0001	ENSP00000382349	T:0	13-Nov	0.000141	0.000102				3.01E-05	0.00112	0.000794	rs199564292,COSM3399095,COSM3399094	13-Nov	common_variant		ENST00000399422	Transcript			fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	ENSG00000215009	g.chr12:7477186C>T	32016			MODERATE		3.2	medium	getma.org/?cm=msa&ty=f&p=ACSM4_HUMAN&rb=503&re=546&var=R510C	getma.org/pdb.php?prot=ACSM4_HUMAN&from=503&to=546&var=R510C	getma.org/?cm=var&var=hg19,12,7477186,C,T&fts=all	R510C	--	--	1																																			0,1,1	1		probably_damaging(0.998)	p.R510C	NM_001080454	NP_001073923	T:0.001	deleterious(0)	0,1,1	ACSM4_HUMAN	ACSM4	HGNC	P0C7M7	ACSM4_HUMAN					11	1528	+			UPI0000DD812A	510					SNV	ACSM4,missense_variant,p.Arg510Cys,ENST00000399422,NM_001080454.1;	uc001qsx.1	c.1528C>T	1576/2142	1	1			c.1528C>T						12	SNP	c.(1528-1530)CGC>TGC	12	12				0	Broad	acyl-CoA synthetase medium-chain family member 4			7477186		0.438	ENSG00000215009	186	g.chr12:7477186C>T	fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding							76.863437	KEEP	11	18	-1	22	15	11	18	-1	77.07469	22	15	0.439394	1	0	0	0	0	1	0	0	0	--	--		0	T				196	GBM-27-1837-TP	p.R510C	C	AGATCAAATCCGCGGAGAGGT	NM_001080454	NP_001073923	7477186	P0C7M7	ACSM4_HUMAN	0			11	1528	+	T	T			Missense_Mutation	510						
ACSM4	0	broad.mit.edu	GRCh37	12	7470689	7470689	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs79217312		TCGA-76-4928-01	TCGA-76-4928-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399422.4:c.832G>A	p.Ala278Thr	p.A278T	ENST00000399422	NM_001080454.1	278	Gcc/Acc	0		A:0.0008	1	A:0		A	A/T	uc001qsx.1	protein_coding	YES	CCDS44825.1			832/1743										0	c.(832-834)GCC>ACC			Gene3D:3.40.50.980,Pfam_domain:PF00501,hmmpanther:PTHR24095,hmmpanther:PTHR24095:SF127,Superfamily_domains:SSF56801	acyl-CoA synthetase medium-chain family member 4		A:0		ENSP00000382349	A:0	13-May	1.65E-05	0.000102						6.06E-05	rs79217312,COSM943389,COSM943390	13-May	.		ENST00000399422	Transcript			fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	ENSG00000215009	g.chr12:7470689G>A	32016			MODERATE		1.215	low	getma.org/?cm=msa&ty=f&p=ACSM4_HUMAN&rb=90&re=502&var=A278T	getma.org/pdb.php?prot=ACSM4_HUMAN&from=90&to=502&var=A278T	getma.org/?cm=var&var=hg19,12,7470689,G,A&fts=all	A278T	--	--	1																																			0,1,1	1		possibly_damaging(0.532)	p.A278T	NM_001080454	NP_001073923	A:0	tolerated(0.09)	0,1,1	ACSM4_HUMAN	ACSM4	HGNC	P0C7M7	ACSM4_HUMAN					5	832	+			UPI0000DD812A	278					SNV	ACSM4,missense_variant,p.Ala278Thr,ENST00000399422,NM_001080454.1;ACSM4,non_coding_transcript_exon_variant,,ENST00000533292,;	uc001qsx.1	c.832G>A	880/2142	1	1			c.832G>A						12	SNP	c.(832-834)GCC>ACC	64	64				0	Broad	acyl-CoA synthetase medium-chain family member 4			7470689		0.458	ENSG00000215009	186	g.chr12:7470689G>A	fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding							15.37738	KEEP	8	7	-1	51	60	8	7	-1	29.323225	51	60	0.132075	1	0	0	0	0	1	0	0	0	--	--		0	A				268	GBM-76-4928-TP	p.A278T	G	GGTCAAGGCCGCCATTGGCAG	NM_001080454	NP_001073923	7470689	P0C7M7	ACSM4_HUMAN	0			5	832	+	A	A			Missense_Mutation	278						
ACSM5	0	broad.mit.edu	GRCh37	16	20442617	20442617	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01	TCGA-28-2513-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331849.4:c.1282C>T	p.Pro428Ser	p.P428S	ENST00000331849	NM_017888.2	428	Ccc/Tcc	0			1			T	P/S	uc002dhe.2	protein_coding	YES	CCDS10585.1			1282/1740									ovary(2)	2	c.(1282-1284)CCC>TCC			Superfamily_domains:SSF56801,Gene3D:2.30.38.10,Pfam_domain:PF00501,hmmpanther:PTHR24095:SF105,hmmpanther:PTHR24095	acyl-CoA synthetase medium-chain family member 5				ENSP00000327916		14-Oct	3.29E-05		0.000345						rs773707858,COSM3402137	14-Oct	.		ENST00000331849	Transcript			fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	ENSG00000183549	g.chr16:20442617C>T	26060			MODERATE		1.75	low	getma.org/?cm=msa&ty=f&p=ACSM5_HUMAN&rb=91&re=502&var=P428S	getma.org/pdb.php?prot=ACSM5_HUMAN&from=91&to=502&var=P428S	getma.org/?cm=var&var=hg19,16,20442617,C,T&fts=all	P428S	--	--	1																																			0,1	1		probably_damaging(0.993)	p.P428S	NM_017888	NP_060358		deleterious(0.01)	0,1	ACSM5_HUMAN	ACSM5	HGNC	Q6NUN0	ACSM5_HUMAN					10	1429	+			UPI00001FEFB3	428					SNV	ACSM5,missense_variant,p.Pro428Ser,ENST00000331849,NM_017888.2;ACSM5,non_coding_transcript_exon_variant,,ENST00000577024,;ACSM5,downstream_gene_variant,,ENST00000570305,;ACSM5,downstream_gene_variant,,ENST00000574748,;ACSM5,downstream_gene_variant,,ENST00000573920,;	uc002dhe.2	c.1282C>T	1429/2796	2	2			c.1282C>T						16	SNP	c.(1282-1284)CCC>TCC	34	34			ovary(2)	2	Broad	acyl-CoA synthetase medium-chain family member 5			20442617		0.413	ENSG00000183549	187	g.chr16:20442617C>T	fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding							6.690383	KEEP	10	9	-1	95	98	10	9	-1	36.904364	95	98	0.093407	1	0	0	0	0	1	0	0	0	--	--		0	T				213	GBM-28-2513-TP	p.P428S	C	ACCCACTCGGCCCTTCTGTTT	NM_017888	NP_060358	20442617	Q6NUN0	ACSM5_HUMAN	0			10	1429	+	T	T			Missense_Mutation	428						
ACTA2	59	broad.mit.edu	GRCh37	10	90699345	90699345	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01	TCGA-06-0173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000458208.1:c.727G>A	p.Glu243Lys	p.E243K	ENST00000458208	NM_001141945.1	243	Gag/Aag	0			1			T	E/K	uc001kfp.2	protein_coding		CCDS7392.1			727/1134										0	c.(727-729)GAG>AAG			hmmpanther:PTHR11937:SF197,hmmpanther:PTHR11937,Pfam_domain:PF00022,Gene3D:3.90.640.10,SMART_domains:SM00268,Superfamily_domains:SSF53067,Prints_domain:PR00190	alpha 2 actin				ENSP00000224784		9-Jul									COSM3397291	9-Jul	.		ENST00000224784	Transcript	1		response to virus	cytosol	ATP binding	ENSG00000107796	g.chr10:90699345C>T	130			MODERATE		2.39	medium	getma.org/?cm=msa&ty=f&p=ACTA_HUMAN&rb=4&re=377&var=E243K	getma.org/pdb.php?prot=ACTA_HUMAN&from=4&to=377&var=E243K	getma.org/?cm=var&var=hg19,10,90699345,C,T&fts=all	E243K	--	--	1																																		STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Missense_Mutation_p.E198K|ACTA2_uc001kfq.2_Missense_Mutation_p.E243K|uc001kfo.1_RNA	1			possibly_damaging(0.861)	p.E243K	NM_001613	NP_001604		deleterious_low_confidence(0.03)	1	ACTA_HUMAN	ACTA2	HGNC	P62736	ACTA_HUMAN		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)	D2JYH4_HUMAN,Q562S2_HUMAN,F6UVQ4_HUMAN,F6QUT6_HUMAN,B4DUI8_HUMAN,B3KPP5_HUMAN		7	843	-		Colorectal(252;0.0161)	UPI0000000E0F	243					SNV	ACTA2,missense_variant,p.Glu243Lys,ENST00000458208,NM_001141945.1;ACTA2,missense_variant,p.Glu243Lys,ENST00000224784,NM_001613.2;STAMBPL1,intron_variant,,ENST00000371927,;ACTA2,downstream_gene_variant,,ENST00000415557,;ACTA2,downstream_gene_variant,,ENST00000458159,;ACTA2-AS1,non_coding_transcript_exon_variant,,ENST00000437930,;ACTA2-AS1,non_coding_transcript_exon_variant,,ENST00000596007,;ACTA2,downstream_gene_variant,,ENST00000480297,;	uc001kfp.2	c.727G>A	793/1349	2	2			c.727G>A						10	SNP	c.(727-729)GAG>AAG	20	20				0	Broad	alpha 2 actin			90699345		0.512	ENSG00000107796	192	g.chr10:90699345C>T	response to virus	cytosol	ATP binding			5			5	-0.969728	KEEP	4	2	-1	34	33	4	2	-1	11.46698	34	33	0.074627	1	0	0	0	0	1	0	0	0	--	--		0	T			STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Missense_Mutation_p.E198K|ACTA2_uc001kfq.2_Missense_Mutation_p.E243K|uc001kfo.1_RNA	36	GBM-06-0173-TP	p.E243K	C	TCAGGCAACTCGTAACTCTTC	NM_001613	NP_001604	90699345	P62736	ACTA_HUMAN	0		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)	7	843	-	T	T		Colorectal(252;0.0161)	Missense_Mutation	243						
ACTA2	59		GRCh37	10	90707027	90707027	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000458208.1:c.246C>T	p.Asp82=	p.D82=	ENST00000458208	NM_001141945.1	82	gaC/gaT	0																																																																																																																																																																																																																																												
ACTBL2	0	broad.mit.edu	GRCh37	5	56778318	56778318	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01	TCGA-32-1970-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000423391.1:c.217G>A	p.Glu73Lys	p.E73K	ENST00000423391	NM_001017992.3	73	Gag/Aag	0			1			T	E/K	uc003jrm.2	protein_coding	YES	CCDS34163.1			217/1131									ovary(3)	3	c.(217-219)GAG>AAG			hmmpanther:PTHR11937:SF168,hmmpanther:PTHR11937,Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067,Prints_domain:PR00190	actin, beta-like 2				ENSP00000416706		1-Jan									COSM3410334	1-Jan	.		ENST00000423391	Transcript				cytoplasm|cytoskeleton	ATP binding	ENSG00000169067	g.chr5:56778318C>T	17780			MODERATE		2.44	medium	getma.org/?cm=msa&ty=f&p=ACTBL_HUMAN&rb=3&re=376&var=E73K	getma.org/pdb.php?prot=ACTBL_HUMAN&from=3&to=376&var=E73K	getma.org/?cm=var&var=hg19,5,56778318,C,T&fts=all	E73K	--	--	1																																			1	1		possibly_damaging(0.585)	p.E73K	NM_001017992	NP_001017992		tolerated_low_confidence(0.06)	1	ACTBL_HUMAN	ACTBL2	HGNC	Q562R1	ACTBL_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)			1	319	-		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)	UPI000013EB83	73					SNV	ACTBL2,missense_variant,p.Glu73Lys,ENST00000423391,NM_001017992.3;AC025470.1,upstream_gene_variant,,ENST00000584598,;CTD-2023N9.1,intron_variant,,ENST00000506106,;	uc003jrm.2	c.217G>A	319/2791	2	2			c.217G>A						5	SNP	c.(217-219)GAG>AAG	35	35			ovary(3)	3	Broad	actin, beta-like 2			56778318		0.542	ENSG00000169067	194	g.chr5:56778318C>T		cytoplasm|cytoskeleton	ATP binding							62.172385	KEEP	14	11	-1	20	20	14	11	-1	63.034749	20	20	0.368421	1	0	0	0	0	1	0	0	0	--	--		0	T				228	GBM-32-1970-TP	p.E73K	C	ACTCCATGCTCGATAGGATAC	NM_001017992	NP_001017992	56778318	Q562R1	ACTBL_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)	1	319	-	T	T		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)	Missense_Mutation	73						
ACTG2	72	broad.mit.edu	GRCh37	2	74128551	74128551	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409624.1:c.113G>A	p.Arg38His	p.R38H	ENST00000409624		38	cGc/cAc	0			1			A	R/H	uc002sjw.2	protein_coding		CCDS1930.1			113/1131										0	c.(112-114)CGC>CAC			hmmpanther:PTHR11937:SF197,hmmpanther:PTHR11937,Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067	actin, gamma 2 propeptide				ENSP00000295137		9-Feb									COSM2152184	9-Feb	.		ENST00000345517	Transcript	1		muscle contraction	cytoskeleton|cytosol	ATP binding	ENSG00000163017	g.chr2:74128551G>A	145			MODERATE		2.535	medium	getma.org/?cm=msa&ty=f&p=ACTH_HUMAN&rb=3&re=376&var=R38H	getma.org/pdb.php?prot=ACTH_HUMAN&from=3&to=376&var=R38H	getma.org/?cm=var&var=hg19,2,74128551,G,A&fts=all	R38H	--	--	1																																		ACTG2_uc010fex.1_Missense_Mutation_p.R38H|ACTG2_uc010fey.2_Missense_Mutation_p.R38H|ACTG2_uc010yrn.1_Missense_Mutation_p.R38H	1			benign(0.073)	p.R38H	NM_001615	NP_001606		tolerated_low_confidence(0.06)	1	ACTH_HUMAN	ACTG2	HGNC	P63267	ACTH_HUMAN			Q562S2_HUMAN		2	235	+			UPI0000000CCB	38					SNV	ACTG2,missense_variant,p.Arg38His,ENST00000409624,;ACTG2,missense_variant,p.Arg38His,ENST00000345517,NM_001615.3;ACTG2,missense_variant,p.Arg38His,ENST00000409731,NM_001199893.1;ACTG2,missense_variant,p.Arg38His,ENST00000409918,;ACTG2,missense_variant,p.Arg38His,ENST00000442912,;ACTG2,missense_variant,p.Arg38His,ENST00000438902,;ACTG2,missense_variant,p.Arg38His,ENST00000429756,;ACTG2,non_coding_transcript_exon_variant,,ENST00000473016,;ACTG2,non_coding_transcript_exon_variant,,ENST00000468543,;	uc002sjw.2	c.113G>A	222/1530	1	1			c.113G>A						2	SNP	c.(112-114)CGC>CAC	52	52				0	Broad	actin, gamma 2 propeptide			74128551		0.637	ENSG00000163017	197	g.chr2:74128551G>A	muscle contraction	cytoskeleton|cytosol	ATP binding							83.997034	KEEP	25	17	-1	58	56	25	17	-1	90.877583	58	56	0.266187	1	0	0	0	0	1	0	0	0	--	--		0	A			ACTG2_uc010fex.1_Missense_Mutation_p.R38H|ACTG2_uc010fey.2_Missense_Mutation_p.R38H|ACTG2_uc010yrn.1_Missense_Mutation_p.R38H	73	GBM-06-0877-TP	p.R38H	G	ATTGTGGGCCGCCCTCGCCAC	NM_001615	NP_001606	74128551	P63267	ACTH_HUMAN	0			2	235	+	A	A			Missense_Mutation	38						
ACTG2	0	broad.mit.edu	GRCh37	2	74140711	74140711	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6193-01	TCGA-76-6193-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345517.3:c.551G>A	p.Arg184His	p.R184H	ENST00000345517	NM_001615.3	184	cGt/cAt	0			1			A	R/H	uc002sjw.2	protein_coding		CCDS1930.1			551/1131										0	c.(550-552)CGT>CAT			hmmpanther:PTHR11937:SF197,hmmpanther:PTHR11937,Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067	actin, gamma 2 propeptide				ENSP00000295137		9-Jun	8.24E-06					1.50E-05			rs749903398,COSM2998868	9-Jun	.		ENST00000345517	Transcript	1		muscle contraction	cytoskeleton|cytosol	ATP binding	ENSG00000163017	g.chr2:74140711G>A	145			MODERATE		3.825	high	getma.org/?cm=msa&ty=f&p=ACTH_HUMAN&rb=3&re=376&var=R184H	getma.org/pdb.php?prot=ACTH_HUMAN&from=3&to=376&var=R184H	getma.org/?cm=var&var=hg19,2,74140711,G,A&fts=all	R184H	--	--	1																																		ACTG2_uc010fey.2_Missense_Mutation_p.R184H|ACTG2_uc010yrn.1_Missense_Mutation_p.R141H	0,1			probably_damaging(0.938)	p.R184H	NM_001615	NP_001606		deleterious_low_confidence(0)	0,1	ACTH_HUMAN	ACTG2	HGNC	P63267	ACTH_HUMAN			Q562S2_HUMAN		6	673	+			UPI0000000CCB	184					SNV	ACTG2,missense_variant,p.Arg184His,ENST00000409624,;ACTG2,missense_variant,p.Arg184His,ENST00000345517,NM_001615.3;ACTG2,missense_variant,p.Arg141His,ENST00000409731,NM_001199893.1;ACTG2,downstream_gene_variant,,ENST00000442912,;ACTG2,3_prime_UTR_variant,,ENST00000438902,;ACTG2,3_prime_UTR_variant,,ENST00000429756,;	uc002sjw.2	c.551G>A	660/1530	1	1			c.551G>A						2	SNP	c.(550-552)CGT>CAT	61	61				0	Broad	actin, gamma 2 propeptide			74140711		0.552	ENSG00000163017	197	g.chr2:74140711G>A	muscle contraction	cytoskeleton|cytosol	ATP binding							53.136867	KEEP	10	14	-1	30	32	10	14	-1	56.566164	30	32	0.276316	1	0	0	0	0	1	0	0	0	--	--		0	A			ACTG2_uc010fey.2_Missense_Mutation_p.R184H|ACTG2_uc010yrn.1_Missense_Mutation_p.R141H	276	GBM-76-6193-TP	p.R184H	G	TTGGCTGGCCGTGACCTCACG	NM_001615	NP_001606	74140711	P63267	ACTH_HUMAN	0			6	673	+	A	A			Missense_Mutation	184						
ACTL7B	10880	broad.mit.edu	GRCh37	9	111617172	111617172	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-5418-01	TCGA-06-5418-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374667.3:c.1039A>G	p.Met347Val	p.M347V	ENST00000374667	NM_006686.3	347	Atg/Gtg	0			1			C	M/V	uc004bdi.2	protein_coding	YES	CCDS6771.1			1039/1248									pancreas(1)	1	c.(1039-1041)ATG>GTG			hmmpanther:PTHR11937:SF59,hmmpanther:PTHR11937,Gene3D:3.30.420.40,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067	actin-like 7B				ENSP00000363799		1-Jan									COSM2153331	1-Jan	.		ENST00000374667	Transcript				actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	ENSG00000148156	g.chr9:111617172T>C	162			MODERATE		2.955	medium	getma.org/?cm=msa&ty=f&p=ACL7B_HUMAN&rb=46&re=415&var=M347V	getma.org/pdb.php?prot=ACL7B_HUMAN&from=46&to=415&var=M347V	getma.org/?cm=var&var=hg19,9,111617172,T,C&fts=all	M347V	--	--	1																																			1	1		benign(0.197)	p.M347V	NM_006686	NP_006677		deleterious(0.03)	1	ACL7B_HUMAN	ACTL7B	HGNC	Q9Y614	ACL7B_HUMAN					1	1104	-			UPI0000125053	347					SNV	ACTL7B,missense_variant,p.Met347Val,ENST00000374667,NM_006686.3;	uc004bdi.2	c.1039A>G	2068/2369	4	4			c.1039A>G						9	SNP	c.(1039-1041)ATG>GTG	41	41			pancreas(1)	1	Broad	actin-like 7B			111617172		0.682	ENSG00000148156	201	g.chr9:111617172T>C		actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton							144.314859	KEEP	21	24	-1	36	32	21	24	-1	144.992718	36	32	0.413462	1	0	0	0	0	1	0	0	0	--	--		0	C				100	GBM-06-5418-TP	p.M347V	T	CCATCCAGCATAGTGCAGCCG	NM_006686	NP_006677	111617172	Q9Y614	ACL7B_HUMAN	0			1	1104	-	C	C			Missense_Mutation	347						
ACTL8	0	broad.mit.edu	GRCh37	1	18149715	18149715	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01	TCGA-19-2625-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375406.1:c.212G>A	p.Arg71His	p.R71H	ENST00000375406	NM_030812.2	71	cGc/cAc	0			1			A	R/H	uc001bat.2	protein_coding	YES	CCDS183.1			212/1101									ovary(4)	4	c.(211-213)CGC>CAC			Gene3D:3.30.420.40,Pfam_domain:PF00022,Prints_domain:PR00190,hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF169,SMART_domains:SM00268,Superfamily_domains:SSF53067	actin-like 8				ENSP00000364555		3-Feb	1.65E-05					3.00E-05			rs201038955,COSM1336898	3-Feb	.		ENST00000375406	Transcript				cytoplasm|cytoskeleton		ENSG00000117148	g.chr1:18149715G>A	24018			MODERATE		0.785	neutral	getma.org/?cm=msa&ty=f&p=ACTL8_HUMAN&rb=2&re=366&var=R71H	getma.org/pdb.php?prot=ACTL8_HUMAN&from=2&to=366&var=R71H	getma.org/?cm=var&var=hg19,1,18149715,G,A&fts=all	R71H	--	--	1																																			0,1	1		benign(0.148)	p.R71H	NM_030812	NP_110439		deleterious(0.04)	0,1	ACTL8_HUMAN	ACTL8	HGNC	Q9H568	ACTL8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)			2	428	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	UPI000007008F	71					SNV	ACTL8,missense_variant,p.Arg71His,ENST00000375406,NM_030812.2;	uc001bat.2	c.212G>A	428/1861	2	2			c.212G>A						1	SNP	c.(211-213)CGC>CAC	45	45			ovary(4)	4	Broad	actin-like 8			18149715		0.597	ENSG00000117148	202	g.chr1:18149715G>A		cytoplasm|cytoskeleton								172.210446	KEEP	39	34	-1	85	93	39	34	-1	180.432853	85	93	0.295455	1	0	0	0	0	1	0	0	0	--	--		0	A				165	GBM-19-2625-TP	p.R71H	G	GAGCGGGGCCGCATCCTCAAC	NM_030812	NP_110439	18149715	Q9H568	ACTL8_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	2	428	+	A	A		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	Missense_Mutation	71						
ACTL8	81569		GRCh37	1	18152553	18152553	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000375406.1:c.640G>A	p.Val214Met	p.V214M	ENST00000375406	NM_030812.2	214	Gtg/Atg	0																																																																																																																																																																																																																																												
ACTL9	284382	broad.mit.edu	GRCh37	19	8807914	8807914	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0210-01	TCGA-06-0210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324436.3:c.1138G>A	p.Val380Ile	p.V380I	ENST00000324436	NM_178525.3	380	Gta/Ata	0		T:0.0008	1	T:0		T	V/I	uc002mkl.2	protein_coding	YES	CCDS12207.1			1138/1251									large_intestine(2)|pancreas(1)	3	c.(1138-1140)GTA>ATA			Superfamily_domains:SSF53067,SMART_domains:SM00268,Pfam_domain:PF00022,Gene3D:3.30.420.40,hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF194	actin-like 9		T:0		ENSP00000316674	T:0	1-Jan	8.24E-06	0.000101							rs532021673,COSM1751282	1-Jan	.		ENST00000324436	Transcript		T:0.0002		cytoplasm|cytoskeleton		ENSG00000181786	g.chr19:8807914C>T	28494			MODERATE		2.795	medium	getma.org/?cm=msa&ty=f&p=ACTL9_HUMAN&rb=47&re=416&var=V380I	getma.org/pdb.php?prot=ACTL9_HUMAN&from=47&to=416&var=V380I	getma.org/?cm=var&var=hg19,19,8807914,C,T&fts=all	V380I	--	--	1																																			0,1	1		probably_damaging(0.995)	p.V380I	NM_178525	NP_848620	T:0	deleterious(0)	0,1	ACTL9_HUMAN	ACTL9	HGNC	Q8TC94	ACTL9_HUMAN					1	1259	-			UPI000014129E	380					SNV	ACTL9,missense_variant,p.Val380Ile,ENST00000324436,NM_178525.3;	uc002mkl.2	c.1138G>A	1259/1422	1	1			c.1138G>A						19	SNP	c.(1138-1140)GTA>ATA	3	3			large_intestine(2)|pancreas(1)	3	Broad	actin-like 9			8807914		0.662	ENSG00000181786	203	g.chr19:8807914C>T		cytoplasm|cytoskeleton								67.099264	KEEP	15	14	-1	39	48	15	14	-1	71.063236	39	48	0.284211	1	0	0	0	0	1	0	0	0	--	--		0	T				47	GBM-06-0210-TP	p.V380I	C	CCGATCCATACGGAGAAATTC	NM_178525	NP_848620	8807914	Q8TC94	ACTL9_HUMAN	0			1	1259	-	T	T			Missense_Mutation	380						
ACTL9	0	broad.mit.edu	GRCh37	19	8807821	8807821	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01	TCGA-14-0789-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324436.3:c.1231G>A	p.Val411Met	p.V411M	ENST00000324436	NM_178525.3	411	Gtg/Atg	0			1			T	V/M	uc002mkl.2	protein_coding	YES	CCDS12207.1			1231/1251									large_intestine(2)|pancreas(1)	3	c.(1231-1233)GTG>ATG			Superfamily_domains:SSF53067,SMART_domains:SM00268,Pfam_domain:PF00022,Gene3D:3.30.420.40,hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF194	actin-like 9				ENSP00000316674		1-Jan	1.65E-05	0.000105				1.60E-05			rs782060616,COSM3404816	1-Jan	.		ENST00000324436	Transcript				cytoplasm|cytoskeleton		ENSG00000181786	g.chr19:8807821C>T	28494			MODERATE		2.65	medium	getma.org/?cm=msa&ty=f&p=ACTL9_HUMAN&rb=47&re=416&var=V411M	getma.org/pdb.php?prot=ACTL9_HUMAN&from=47&to=416&var=V411M	getma.org/?cm=var&var=hg19,19,8807821,C,T&fts=all	V411M	--	--	1																																			0,1	1		probably_damaging(0.999)	p.V411M	NM_178525	NP_848620		deleterious(0)	0,1	ACTL9_HUMAN	ACTL9	HGNC	Q8TC94	ACTL9_HUMAN					1	1352	-			UPI000014129E	411					SNV	ACTL9,missense_variant,p.Val411Met,ENST00000324436,NM_178525.3;	uc002mkl.2	c.1231G>A	1352/1422	2	2			c.1231G>A						19	SNP	c.(1231-1233)GTG>ATG	35	35			large_intestine(2)|pancreas(1)	3	Broad	actin-like 9			8807821		0.632	ENSG00000181786	203	g.chr19:8807821C>T		cytoplasm|cytoskeleton								104.954225	KEEP	28	30	-1	128	140	28	30	-1	133.027029	128	140	0.1777	1	0	0	0	0	1	0	0	0	--	--		0	T				136	GBM-14-0789-TP	p.V411M	C	TTGCGGTACACGATATAGGGA	NM_178525	NP_848620	8807821	Q8TC94	ACTL9_HUMAN	0			1	1352	-	T	T			Missense_Mutation	411						
ACTL9	0	broad.mit.edu	GRCh37	19	8808430	8808430	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs139329295		TCGA-28-5208-01	TCGA-28-5208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324436.3:c.622G>A	p.Val208Ile	p.V208I	ENST00000324436	NM_178525.3	208	Gtc/Atc	0	A:0		1			T	V/I	uc002mkl.2	protein_coding	YES	CCDS12207.1			622/1251									large_intestine(2)|pancreas(1)	3	c.(622-624)GTC>ATC			Superfamily_domains:SSF53067,SMART_domains:SM00268,Pfam_domain:PF00022,Gene3D:3.30.420.40,hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF194	actin-like 9			A:0.0001	ENSP00000316674		1-Jan	8.24E-06					1.53E-05			rs139329295,COSM3404817	1-Jan	.		ENST00000324436	Transcript				cytoplasm|cytoskeleton		ENSG00000181786	g.chr19:8808430C>T	28494			MODERATE		0.835	low	getma.org/?cm=msa&ty=f&p=ACTL9_HUMAN&rb=47&re=416&var=V208I	getma.org/pdb.php?prot=ACTL9_HUMAN&from=47&to=416&var=V208I	getma.org/?cm=var&var=hg19,19,8808430,C,T&fts=all	V208I	--	--	1																																			0,1	1		probably_damaging(0.995)	p.V208I	NM_178525	NP_848620		tolerated(0.41)	0,1	ACTL9_HUMAN	ACTL9	HGNC	Q8TC94	ACTL9_HUMAN					1	743	-			UPI000014129E	208					SNV	ACTL9,missense_variant,p.Val208Ile,ENST00000324436,NM_178525.3;	uc002mkl.2	c.622G>A	743/1422	1	1			c.622G>A						19	SNP	c.(622-624)GTC>ATC	3	3			large_intestine(2)|pancreas(1)	3	Broad	actin-like 9			8808430		0.667	ENSG00000181786	203	g.chr19:8808430C>T		cytoplasm|cytoskeleton								158.844181	KEEP	23	41	-1	51	53	23	41	-1	161.179876	51	53	0.371069	1	0	0	0	0	1	0	0	0	--	--		0	T				217	GBM-28-5208-TP	p.V208I	C	CCCTGGAAGACGGGCACTGTG	NM_178525	NP_848620	8808430	Q8TC94	ACTL9_HUMAN	0			1	743	-	T	T			Missense_Mutation	208						
ACTN1	87	broad.mit.edu	GRCh37	14	69349203	69349203	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-5856-01	TCGA-06-5856-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394419.4:c.1925T>G	p.Ile642Ser	p.I642S	ENST00000394419	NM_001130004.1	642	aTc/aGc	0			1			C	I/S	uc001xkl.2	protein_coding		CCDS9792.1			1925/2679									central_nervous_system(1)	1	c.(1924-1926)ATC>AGC			Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF241,SMART_domains:SM00150,Superfamily_domains:SSF46966	actinin, alpha 1 isoform b				ENSP00000193403		16/21									COSM3401429	16/21	.		ENST00000193403	Transcript	1		focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	ENSG00000072110	g.chr14:69349203A>C	163			MODERATE		2.19	medium	getma.org/?cm=msa&ty=f&p=ACTN1_HUMAN&rb=630&re=733&var=I642S	getma.org/pdb.php?prot=ACTN1_HUMAN&from=630&to=733&var=I642S	getma.org/?cm=var&var=hg19,14,69349203,A,C&fts=all	I642S	--	--	1																																		ACTN1_uc001xkk.2_Missense_Mutation_p.I238S|ACTN1_uc010ttb.1_Missense_Mutation_p.I577S|ACTN1_uc001xkm.2_Missense_Mutation_p.I642S|ACTN1_uc001xkn.2_Missense_Mutation_p.I642S|ACTN1_uc010ttc.1_Missense_Mutation_p.I227S	1			benign(0.212)	p.I642S	NM_001102	NP_001093		deleterious(0)	1	ACTN1_HUMAN	ACTN1	HGNC	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	Q5ZEZ4_HUMAN,G3V2X9_HUMAN,G3V2W4_HUMAN,G3V2E8_HUMAN		16	2235	-			UPI0000043C25	642			Spectrin 4.|Interaction with DDN.		SNV	ACTN1,missense_variant,p.Ile642Ser,ENST00000193403,NM_001102.3;ACTN1,missense_variant,p.Ile642Ser,ENST00000394419,NM_001130004.1;ACTN1,missense_variant,p.Ile642Ser,ENST00000438964,NM_001130005.1;ACTN1,missense_variant,p.Ile577Ser,ENST00000376839,;ACTN1,missense_variant,p.Ile642Ser,ENST00000538545,;ACTN1,missense_variant,p.Ile28Ser,ENST00000555075,;ACTN1,missense_variant,p.Ile82Ser,ENST00000553290,;ACTN1,intron_variant,,ENST00000544964,;ACTN1,downstream_gene_variant,,ENST00000556343,;ACTN1,non_coding_transcript_exon_variant,,ENST00000556083,;ACTN1,upstream_gene_variant,,ENST00000553882,;ACTN1,upstream_gene_variant,,ENST00000556432,;	uc001xkl.2	c.1925T>G	2309/3779	3	3			c.1925T>G						14	SNP	c.(1924-1926)ATC>AGC	60	60			central_nervous_system(1)	1	Broad	actinin, alpha 1 isoform b			69349203		0.642	ENSG00000072110	204	g.chr14:69349203A>C	focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding							7.278911	KEEP	3	3	-1	16	14	3	3	-1	11.673315	16	14	0.125	1	0	0	0	0	1	0	0	0	--	--		0	C			ACTN1_uc001xkk.2_Missense_Mutation_p.I238S|ACTN1_uc010ttb.1_Missense_Mutation_p.I577S|ACTN1_uc001xkm.2_Missense_Mutation_p.I642S|ACTN1_uc001xkn.2_Missense_Mutation_p.I642S|ACTN1_uc010ttc.1_Missense_Mutation_p.I227S	101	GBM-06-5856-TP	p.I642S	A	CCAGGGCCCGATGACATTGGC	NM_001102	NP_001093	69349203	P12814	ACTN1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	16	2235	-	C	C			Missense_Mutation	642			Spectrin 4.|Interaction with DDN.			
ACTN1	0	broad.mit.edu	GRCh37	14	69349623	69349623	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0871-01	TCGA-14-0871-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000193403.6:c.1785C>T	p.Ile595=	p.I595=	ENST00000193403	NM_001102.3	595	atC/atT	0			1			A	I	uc001xkl.2	protein_coding		CCDS9792.1			1785/2679									central_nervous_system(1)	1	c.(1783-1785)ATC>ATT			Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF241,SMART_domains:SM00150,Superfamily_domains:SSF46966	actinin, alpha 1 isoform b				ENSP00000193403		15/21									COSM3401430	15/21	.		ENST00000193403	Transcript	1		focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	ENSG00000072110	g.chr14:69349623G>A	163			LOW								--	--	1																																		ACTN1_uc001xkk.2_Silent_p.I191I|ACTN1_uc010ttb.1_Silent_p.I530I|ACTN1_uc001xkm.2_Silent_p.I595I|ACTN1_uc001xkn.2_Silent_p.I595I|ACTN1_uc010ttc.1_Silent_p.I180I	1				p.I595I	NM_001102	NP_001093			1	ACTN1_HUMAN	ACTN1	HGNC	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	Q5ZEZ4_HUMAN,G3V2X9_HUMAN,G3V2W4_HUMAN,G3V2E8_HUMAN		15	2095	-			UPI0000043C25	595			Interaction with DDN.|Spectrin 3.		SNV	ACTN1,synonymous_variant,p.=,ENST00000193403,NM_001102.3;ACTN1,synonymous_variant,p.=,ENST00000394419,NM_001130004.1;ACTN1,synonymous_variant,p.=,ENST00000438964,NM_001130005.1;ACTN1,synonymous_variant,p.=,ENST00000376839,;ACTN1,synonymous_variant,p.=,ENST00000538545,;ACTN1,synonymous_variant,p.=,ENST00000544964,;ACTN1,intron_variant,,ENST00000553290,;ACTN1,upstream_gene_variant,,ENST00000555075,;ACTN1,downstream_gene_variant,,ENST00000556343,;ACTN1,non_coding_transcript_exon_variant,,ENST00000556083,;ACTN1,upstream_gene_variant,,ENST00000553882,;ACTN1,upstream_gene_variant,,ENST00000556432,;HMGN1P3,downstream_gene_variant,,ENST00000555136,;	uc001xkl.2	c.1785C>T	2169/3779	2	2			c.1785C>T						14	SNP	c.(1783-1785)ATC>ATT	45	45			central_nervous_system(1)	1	Broad	actinin, alpha 1 isoform b			69349623		0.517	ENSG00000072110	204	g.chr14:69349623G>A	focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding							22.927356	KEEP	9	9	-1	49	59	9	9	-1	36.927622	49	59	0.141593	1	0	0	0	0	0	0	1	0	--	--		0	A			ACTN1_uc001xkk.2_Silent_p.I191I|ACTN1_uc010ttb.1_Silent_p.I530I|ACTN1_uc001xkm.2_Silent_p.I595I|ACTN1_uc001xkn.2_Silent_p.I595I|ACTN1_uc010ttc.1_Silent_p.I180I	141	GBM-14-0871-TP	p.I595I	G	CCTGAGGCGTGATGGTTGTGT	NM_001102	NP_001093	69349623	P12814	ACTN1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	15	2095	-	A	A			Silent	595			Interaction with DDN.|Spectrin 3.			
ACTN1	0	broad.mit.edu	GRCh37	14	69356891	69356891	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000193403.6:c.1199G>A	p.Arg400Gln	p.R400Q	ENST00000193403	NM_001102.3	400	cGg/cAg	0		T:0	1	T:0		T	R/Q	uc001xkl.2	protein_coding		CCDS9792.1			1199/2679									central_nervous_system(1)	1	c.(1198-1200)CGG>CAG			Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF241,SMART_domains:SM00150,Superfamily_domains:SSF46966	actinin, alpha 1 isoform b		T:0		ENSP00000193403	T:0	21-Nov	4.94E-05	0.0001				3.06E-05		0.000185	rs575011573,COSM3401431	21-Nov	.		ENST00000193403	Transcript	1	T:0.0004	focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	ENSG00000072110	g.chr14:69356891C>T	163			MODERATE		1.64	low	getma.org/?cm=msa&ty=f&p=ACTN1_HUMAN&rb=394&re=499&var=R400Q	getma.org/pdb.php?prot=ACTN1_HUMAN&from=394&to=499&var=R400Q	getma.org/?cm=var&var=hg19,14,69356891,C,T&fts=all	R400Q	--	--	1																																		ACTN1_uc001xkk.2_5'Flank|ACTN1_uc010ttb.1_Missense_Mutation_p.R335Q|ACTN1_uc001xkm.2_Missense_Mutation_p.R400Q|ACTN1_uc001xkn.2_Missense_Mutation_p.R400Q|ACTN1_uc001xko.1_Missense_Mutation_p.R335Q|ACTN1_uc010ttd.1_Missense_Mutation_p.R379Q	0,1			benign(0.366)	p.R400Q	NM_001102	NP_001093	T:0.002	tolerated(0.08)	0,1	ACTN1_HUMAN	ACTN1	HGNC	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	Q5ZEZ4_HUMAN,G3V2X9_HUMAN,G3V2W4_HUMAN,G3V2E8_HUMAN		11	1509	-			UPI0000043C25	400			Spectrin 2.|Interaction with DDN.		SNV	ACTN1,missense_variant,p.Arg400Gln,ENST00000193403,NM_001102.3;ACTN1,missense_variant,p.Arg400Gln,ENST00000394419,NM_001130004.1;ACTN1,missense_variant,p.Arg400Gln,ENST00000438964,NM_001130005.1;ACTN1,missense_variant,p.Arg335Gln,ENST00000376839,;ACTN1,missense_variant,p.Arg400Gln,ENST00000538545,;ACTN1,downstream_gene_variant,,ENST00000556433,;ACTN1,downstream_gene_variant,,ENST00000555616,;ACTN1,upstream_gene_variant,,ENST00000544964,;ACTN1,downstream_gene_variant,,ENST00000554508,;ACTN1,upstream_gene_variant,,ENST00000556083,;HMGN1P3,upstream_gene_variant,,ENST00000555136,;	uc001xkl.2	c.1199G>A	1583/3779	2	2			c.1199G>A						14	SNP	c.(1198-1200)CGG>CAG	32	32			central_nervous_system(1)	1	Broad	actinin, alpha 1 isoform b			69356891		0.647	ENSG00000072110	204	g.chr14:69356891C>T	focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding							36.524901	KEEP	7	5	-1	8	5	7	5	-1	36.560869	8	5	0.458333	1	0	0	0	0	1	0	0	0	--	--		0	T			ACTN1_uc001xkk.2_5'Flank|ACTN1_uc010ttb.1_Missense_Mutation_p.R335Q|ACTN1_uc001xkm.2_Missense_Mutation_p.R400Q|ACTN1_uc001xkn.2_Missense_Mutation_p.R400Q|ACTN1_uc001xko.1_Missense_Mutation_p.R335Q|ACTN1_uc010ttd.1_Missense_Mutation_p.R379Q	177	GBM-19-5959-TP	p.R400Q	C	GGCCTTCTGCCGGAACTTCTC	NM_001102	NP_001093	69356891	P12814	ACTN1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	11	1509	-	T	T			Missense_Mutation	400			Spectrin 2.|Interaction with DDN.			
ACTN4	0	broad.mit.edu	GRCh37	19	39205183	39205183	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-08-0386-01	TCGA-08-0386-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252699.2:c.894C>T	p.Tyr298=	p.Y298=	ENST00000252699	NM_004924.4	298	taC/taT	0		T:0	1	T:0		T	Y	uc002oja.1	protein_coding	YES	CCDS12518.1			894/2736										0	c.(892-894)TAC>TAT			Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF271,SMART_domains:SM00150,Superfamily_domains:SSF46966	actinin, alpha 4		T:0.004		ENSP00000252699	T:0	21-Sep	0.000354	9.76E-05		0.00475				6.07E-05	rs568574676,COSM3404204	21-Sep	common_variant		ENST00000252699	Transcript	1	T:0.0008	platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	ENSG00000130402	g.chr19:39205183C>T	166			LOW								--	--	1																																		ACTN4_uc010egc.1_Silent_p.Y298Y	0,1	1			p.Y298Y	NM_004924	NP_004915	T:0		0,1	ACTN4_HUMAN	ACTN4	HGNC	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Q96BG6_HUMAN		9	953	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		UPI0000125093	298			Spectrin 1.		SNV	ACTN4,synonymous_variant,p.=,ENST00000252699,NM_004924.4;ACTN4,synonymous_variant,p.=,ENST00000390009,;ACTN4,synonymous_variant,p.=,ENST00000586538,;ACTN4,intron_variant,,ENST00000424234,;ACTN4,intron_variant,,ENST00000589528,;ACTN4,non_coding_transcript_exon_variant,,ENST00000489451,;ACTN4,non_coding_transcript_exon_variant,,ENST00000588618,;	uc002oja.1	c.894C>T	970/4963	2	2			c.894C>T						19	SNP	c.(892-894)TAC>TAT	25	25				0	Broad	actinin, alpha 4			39205183		0.582	ENSG00000130402	207	g.chr19:39205183C>T	platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	Colon(168;199 1940 10254 46213 46384)			Colon(168;199 1940 10254 46213 46384)			10.820931	KEEP	1	9	-1	34	42	1	9	-1	21.937129	34	42	0.116883	1	0	0	0	0	0	0	1	0	--	--		0	T			ACTN4_uc010egc.1_Silent_p.Y298Y	116	GBM-08-0386-TP	p.Y298Y	C	TGGAGGACTACGAGAAGCTGG	NM_004924	NP_004915	39205183	O43707	ACTN4_HUMAN	0	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		9	953	+	T	T	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Silent	298			Spectrin 1.			
ACTR3	10096		GRCh37	2	114691915	114691915	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000263238.2:c.492C>T	p.Thr164=	p.T164=	ENST00000263238	NM_005721.4	164	acC/acT	0																																																																																																																																																																																																																																												
ACTR5	0	broad.mit.edu	GRCh37	20	37383758	37383758	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01	TCGA-12-3649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000243903.4:c.934C>T	p.Arg312Trp	p.R312W	ENST00000243903	NM_024855.3	312	Cgg/Tgg	0			1			T	R/W	uc002xjd.2	protein_coding	YES	CCDS13308.1			934/1824										0	c.(934-936)CGG>TGG			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11937:SF16,hmmpanther:PTHR11937,Pfam_domain:PF00022,SMART_domains:SM00268	ARP5 actin-related protein 5 homolog				ENSP00000243903		9-Apr	2.47E-05					4.86E-05			rs772935923,COSM3405072	9-Apr	.		ENST00000243903	Transcript			DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding	ENSG00000101442	g.chr20:37383758C>T	14671			MODERATE		2.67	medium	getma.org/?cm=msa&ty=f&p=ARP5_HUMAN&rb=30&re=570&var=R312W	NA	getma.org/?cm=var&var=hg19,20,37383758,C,T&fts=all	R312W	--	--	1																																			0,1	1		probably_damaging(1)	p.R312W	NM_024855	NP_079131		deleterious(0)	0,1	ARP5_HUMAN	ACTR5	HGNC	Q9H9F9	ARP5_HUMAN					4	959	+		Myeloproliferative disorder(115;0.00878)	UPI000006F9EF	312			Potential.		SNV	ACTR5,missense_variant,p.Arg312Trp,ENST00000243903,NM_024855.3;	uc002xjd.2	c.934C>T	971/2236	1	1			c.934C>T						20	SNP	c.(934-936)CGG>TGG	15	15				0	Broad	ARP5 actin-related protein 5 homolog			37383758		0.597	ENSG00000101442	214	g.chr20:37383758C>T	DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding							46.765779	KEEP	8	12	-1	14	22	8	12	-1	48.143031	14	22	0.326923	1	0	0	0	0	1	0	0	0	--	--		0	T				125	GBM-12-3649-TP	p.R312W	C	CAATGCCCGGCGGCGGGAGGA	NM_024855	NP_079131	37383758	Q9H9F9	ARP5_HUMAN	0			4	959	+	T	T		Myeloproliferative disorder(115;0.00878)	Missense_Mutation	312			Potential.			
ACTR6	0	broad.mit.edu	GRCh37	12	100601474	100601474	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01	TCGA-74-6573-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000188312.2:c.289G>A	p.Glu97Lys	p.E97K	ENST00000188312	NM_022496.4	97	Gaa/Aaa	0			1			A	E/K	uc001thb.1	protein_coding	YES	CCDS9074.1			289/1191									ovary(1)	1	c.(289-291)GAA>AAA			hmmpanther:PTHR11937:SF21,hmmpanther:PTHR11937,Gene3D:3.30.420.40,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067	ARP6 actin-related protein 6 homolog				ENSP00000188312		11-Apr									COSM3398238	11-Apr	.		ENST00000188312	Transcript				cytoplasm|cytoskeleton		ENSG00000075089	g.chr12:100601474G>A	24025			MODERATE		3.46	medium	getma.org/?cm=msa&ty=f&p=ARP6_HUMAN&rb=1&re=395&var=E97K	getma.org/pdb.php?prot=ARP6_HUMAN&from=1&to=395&var=E97K	getma.org/?cm=var&var=hg19,12,100601474,G,A&fts=all	E97K	--	--	1																																		ACTR6_uc010svh.1_Missense_Mutation_p.E97K|ACTR6_uc001thc.1_5'UTR|ACTR6_uc001thd.1_Missense_Mutation_p.E97K|ACTR6_uc009ztu.1_5'UTR|ACTR6_uc001the.1_Missense_Mutation_p.E15K|ACTR6_uc001thf.1_Missense_Mutation_p.E15K|uc001thg.1_Intron	1	1		possibly_damaging(0.791)	p.E97K	NM_022496	NP_071941		deleterious(0)	1	ARP6_HUMAN	ACTR6	HGNC	Q9GZN1	ARP6_HUMAN			Q7Z4D2_HUMAN,G3V1Y1_HUMAN		4	345	+			UPI0000044716	97					SNV	ACTR6,missense_variant,p.Glu97Lys,ENST00000188312,NM_022496.4;ACTR6,missense_variant,p.Glu15Lys,ENST00000546902,;ACTR6,missense_variant,p.Glu15Lys,ENST00000551617,;ACTR6,missense_variant,p.Glu97Lys,ENST00000552376,;ACTR6,missense_variant,p.Glu109Lys,ENST00000551652,;ACTR6,downstream_gene_variant,,ENST00000550813,;ACTR6,missense_variant,p.Glu97Lys,ENST00000553038,;ACTR6,missense_variant,p.Glu97Lys,ENST00000547458,;ACTR6,3_prime_UTR_variant,,ENST00000548180,;ACTR6,3_prime_UTR_variant,,ENST00000552064,;ACTR6,non_coding_transcript_exon_variant,,ENST00000551517,;ACTR6,non_coding_transcript_exon_variant,,ENST00000549977,;DEPDC4,intron_variant,,ENST00000378244,;ACTR6,downstream_gene_variant,,ENST00000551440,;	uc001thb.1	c.289G>A	1054/2464	1	1			c.289G>A						12	SNP	c.(289-291)GAA>AAA	64	64			ovary(1)	1	Broad	ARP6 actin-related protein 6 homolog			100601474		0.244	ENSG00000075089	215	g.chr12:100601474G>A		cytoplasm|cytoskeleton								68.455345	KEEP	13	12	-1	22	20	13	12	-1	69.21546	22	20	0.384615	1	0	0	0	0	1	0	0	0	--	--		0	A			ACTR6_uc010svh.1_Missense_Mutation_p.E97K|ACTR6_uc001thc.1_5'UTR|ACTR6_uc001thd.1_Missense_Mutation_p.E97K|ACTR6_uc009ztu.1_5'UTR|ACTR6_uc001the.1_Missense_Mutation_p.E15K|ACTR6_uc001thf.1_Missense_Mutation_p.E15K|uc001thg.1_Intron	260	GBM-74-6573-TP	p.E97K	G	TATTATCACTGAACCATACTT	NM_022496	NP_071941	100601474	Q9GZN1	ARP6_HUMAN	0			4	345	+	A	A			Missense_Mutation	97						
ACTR8	0	broad.mit.edu	GRCh37	3	53909976	53909976	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01	TCGA-14-1823-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335754.3:c.910C>T	p.Arg304Trp	p.R304W	ENST00000335754	NM_022899.4	304	Cgg/Tgg	0			1			A	R/W	uc003dhd.2	protein_coding	YES	CCDS2875.1			910/1875									ovary(1)|central_nervous_system(1)	2	c.(910-912)CGG>TGG			hmmpanther:PTHR11937:SF13,hmmpanther:PTHR11937,Gene3D:3.30.420.40,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067	actin-related protein 8				ENSP00000336842		13-Jul	8.24E-06					1.50E-05			rs770118342,COSM3408822,COSM3408823	13-Jul	.		ENST00000335754	Transcript			cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	ENSG00000113812	g.chr3:53909976G>A	14672			MODERATE		3.035	medium	getma.org/?cm=msa&ty=f&p=ARP8_HUMAN&rb=43&re=621&var=R304W	getma.org/pdb.php?prot=ARP8_HUMAN&from=43&to=621&var=R304W	getma.org/?cm=var&var=hg19,3,53909976,G,A&fts=all	R304W	--	--	1																																		ACTR8_uc003dhb.2_Missense_Mutation_p.R54C|ACTR8_uc003dhc.2_Missense_Mutation_p.R193W	0,1,1	1		probably_damaging(0.997)	p.R304W	NM_022899	NP_075050		deleterious(0)	0,1,1	ARP8_HUMAN	ACTR8	HGNC	Q9H981	ARP8_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)	C9J7L6_HUMAN		7	969	-			UPI000013C95B	304					SNV	ACTR8,missense_variant,p.Arg304Trp,ENST00000335754,NM_022899.4;ACTR8,missense_variant,p.Arg193Trp,ENST00000482349,;ACTR8,missense_variant,p.Arg103Cys,ENST00000486794,;ACTR8,missense_variant,p.Arg54Cys,ENST00000231909,;ACTR8,downstream_gene_variant,,ENST00000498740,;ACTR8,upstream_gene_variant,,ENST00000495993,;	uc003dhd.2	c.910C>T	1011/3629	1	1			c.910C>T						3	SNP	c.(910-912)CGG>TGG	62	62			ovary(1)|central_nervous_system(1)	2	Broad	actin-related protein 8			53909976		0.433	ENSG00000113812	216	g.chr3:53909976G>A	cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding							97.581637	KEEP	18	25	-1	56	39	18	25	-1	102.243577	56	39	0.291667	1	0	0	0	0	1	0	0	0	--	--		0	A			ACTR8_uc003dhb.2_Missense_Mutation_p.R54C|ACTR8_uc003dhc.2_Missense_Mutation_p.R193W	147	GBM-14-1823-TP	p.R304W	G	GTTCCTTACCGAGTATTCCGA	NM_022899	NP_075050	53909976	Q9H981	ARP8_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)	7	969	-	A	A			Missense_Mutation	304						
ACTRT1	0	broad.mit.edu	GRCh37	X	127185914	127185914	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-14-1450-01	TCGA-14-1450-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371124.3:c.272A>C	p.His91Pro	p.H91P	ENST00000371124	NM_138289.3	91	cAt/cCt	0			1			G	H/P	uc004eum.2	protein_coding	YES	CCDS14611.1			272/1131									ovary(2)|central_nervous_system(2)|skin(1)	5	c.(271-273)CAT>CCT			Gene3D:3.30.420.40,Pfam_domain:PF00022,hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF153,SMART_domains:SM00268,Superfamily_domains:SSF53067	actin-related protein T1				ENSP00000360165		1-Jan									COSM3405942	1-Jan	.		ENST00000371124	Transcript				cytoplasm|cytoskeleton		ENSG00000123165	g.chrX:127185914T>G	24027			MODERATE		4.155	high	getma.org/?cm=msa&ty=f&p=ACTT1_HUMAN&rb=6&re=376&var=H91P	getma.org/pdb.php?prot=ACTT1_HUMAN&from=6&to=376&var=H91P	getma.org/?cm=var&var=hg19,X,127185914,T,G&fts=all	H91P	--	--	1																																			1	1		possibly_damaging(0.904)	p.H91P	NM_138289	NP_612146		deleterious(0)	1	ACTT1_HUMAN	ACTRT1	HGNC	Q8TDG2	ACTT1_HUMAN					1	469	-			UPI0000072276	91					SNV	ACTRT1,missense_variant,p.His91Pro,ENST00000371124,NM_138289.3;	uc004eum.2	c.272A>C	469/1440	3	3			c.272A>C						23	SNP	c.(271-273)CAT>CCT	49	49			ovary(2)|central_nervous_system(2)|skin(1)	5	Broad	actin-related protein T1			127185914		0.493	ENSG00000123165	217	g.chrX:127185914T>G		cytoplasm|cytoskeleton								293.893471	KEEP	79	57	-1	260	279	79	57	-1	341.365455	260	279	0.200351	1	0	0	0	0	1	0	0	0	--	--		0	G				145	GBM-14-1450-TP	p.H91P	T	CTCAAAGAGATGTTTCCAGAG	NM_138289	NP_612146	127185914	Q8TDG2	ACTT1_HUMAN	0			1	469	-	G	G			Missense_Mutation	91						
ACTRT2	140625	broad.mit.edu	GRCh37	1	2939073	2939073	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-01	TCGA-06-0190-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378404.2:c.823G>A	p.Gly275Arg	p.G275R	ENST00000378404	NM_080431.4	275	Ggg/Agg	0	A:0		1			A	G/R	uc001ajz.2	protein_coding	YES	CCDS45.1			823/1134										0	c.(823-825)GGG>AGG			hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF38,Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067	actin-related protein M2			A:0.0001	ENSP00000367658		1-Jan	6.59E-05	0.000218	8.69E-05			7.83E-05			rs201977075,COSM2076430	1-Jan	.		ENST00000378404	Transcript				cytoplasm|cytoskeleton		ENSG00000169717	g.chr1:2939073G>A	24026			MODERATE		4.465	high	getma.org/?cm=msa&ty=f&p=ACTT2_HUMAN&rb=6&re=377&var=G275R	getma.org/pdb.php?prot=ACTT2_HUMAN&from=6&to=377&var=G275R	getma.org/?cm=var&var=hg19,1,2939073,G,A&fts=all	G275R	--	--	1																																			0,1	1		probably_damaging(1)	p.G275R	NM_080431	NP_536356		deleterious(0)	0,1	ACTT2_HUMAN	ACTRT2	HGNC	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)			1	1028	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	UPI0000070494	275					SNV	ACTRT2,missense_variant,p.Gly275Arg,ENST00000378404,NM_080431.4;	uc001ajz.2	c.823G>A	1028/1420	1	1			c.823G>A						1	SNP	c.(823-825)GGG>AGG	55	55				0	Broad	actin-related protein M2			2939073		0.627	ENSG00000169717	218	g.chr1:2939073G>A		cytoplasm|cytoskeleton								128.037606	KEEP	26	27	-1	69	83	26	27	-1	136.486685	69	83	0.269663	1	0	0	0	0	1	0	0	0	--	--		0	A				43	GBM-06-0190-TP	p.G275R	G	CCAGAGCCCCGGGCTCTCGAA	NM_080431	NP_536356	2939073	Q8TDY3	ACTT2_HUMAN	0		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	1	1028	+	A	A	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	Missense_Mutation	275						
ACTRT2	0	broad.mit.edu	GRCh37	1	2938845	2938845	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-41-4097-01	TCGA-41-4097-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378404.2:c.595G>T	p.Ala199Ser	p.A199S	ENST00000378404	NM_080431.4	199	Gcc/Tcc	0			1			T	A/S	uc001ajz.2	protein_coding	YES	CCDS45.1			595/1134										0	c.(595-597)GCC>TCC			hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF38,Pfam_domain:PF00022,Gene3D:3.90.640.10,SMART_domains:SM00268,Superfamily_domains:SSF53067	actin-related protein M2				ENSP00000367658		1-Jan									COSM3400657	1-Jan	.		ENST00000378404	Transcript				cytoplasm|cytoskeleton		ENSG00000169717	g.chr1:2938845G>T	24026			MODERATE		1.015	low	getma.org/?cm=msa&ty=f&p=ACTT2_HUMAN&rb=6&re=377&var=A199S	getma.org/pdb.php?prot=ACTT2_HUMAN&from=6&to=377&var=A199S	getma.org/?cm=var&var=hg19,1,2938845,G,T&fts=all	A199S	--	--	1																																			1	1		benign(0.119)	p.A199S	NM_080431	NP_536356		deleterious(0.04)	1	ACTT2_HUMAN	ACTRT2	HGNC	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)			1	800	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	UPI0000070494	199					SNV	ACTRT2,missense_variant,p.Ala199Ser,ENST00000378404,NM_080431.4;	uc001ajz.2	c.595G>T	800/1420	1	1			c.595G>T						1	SNP	c.(595-597)GCC>TCC	15	15				0	Broad	actin-related protein M2			2938845		0.617	ENSG00000169717	218	g.chr1:2938845G>T		cytoplasm|cytoskeleton								1.775941	KEEP	3	3	0.5	25	27	3	3	0.5	8.166064	25	27	0.1	1	0	0	0	0	1	0	0	0	--	--		0	T				257	GBM-41-4097-TP	p.A199S	G	GCTGCTCCTGGCCAGCGGCCA	NM_080431	NP_536356	2938845	Q8TDY3	ACTT2_HUMAN	0		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	1	800	+	T	T	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	Missense_Mutation	199						
ACVR1	90	broad.mit.edu	GRCh37	2	158626971	158626971	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0128-01	TCGA-06-0128-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263640.3:c.699C>T	p.Ala233=	p.A233=	ENST00000263640	NM_001105.4	233	gcC/gcT	0		A:0	1	A:0.0014		A	A	uc002tzm.3	protein_coding	YES	CCDS2206.1			699/1530									ovary(2)|skin(1)	3	c.(697-699)GCC>GCT			Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_patterns:PS00107,PROSITE_profiles:PS50011,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF56,SMART_domains:SM00220,Superfamily_domains:SSF56112	activin A receptor, type I precursor	Adenosine triphosphate(DB00171)	A:0		ENSP00000263640	A:0	11-Jul	2.47E-05		0.000173		0.000151				rs182542928,COSM2149462	11-Jul	.		ENST00000263640	Transcript	1	A:0.0002	BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding	ENSG00000115170	g.chr2:158626971G>A	171			LOW								--	--	1																																		ACVR1_uc002tzn.3_Silent_p.A233A|ACVR1_uc010fog.2_Silent_p.A233A	0,1	1			p.A233A	NM_001111067	NP_001104537	A:0		0,1	ACVR1_HUMAN	ACVR1	HGNC	Q04771	ACVR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.104)	D3DPA4_HUMAN,Q53SV1_HUMAN,Q53SF4_HUMAN,F5GY91_HUMAN,C9JW28_HUMAN,C9JHJ7_HUMAN,C9J1R3_HUMAN		8	1038	-			UPI000000163F	233			Cytoplasmic (Potential).|Protein kinase.		SNV	ACVR1,synonymous_variant,p.=,ENST00000263640,NM_001105.4;ACVR1,synonymous_variant,p.=,ENST00000409283,;ACVR1,synonymous_variant,p.=,ENST00000434821,NM_001111067.2;ACVR1,synonymous_variant,p.=,ENST00000410057,;	uc002tzm.3	c.699C>T	1129/3045	2	2			c.699C>T						2	SNP	c.(697-699)GCC>GCT	46	46			ovary(2)|skin(1)	3	Broad	activin A receptor, type I precursor		Adenosine triphosphate(DB00171)	158626971		0.463	ENSG00000115170	219	g.chr2:158626971G>A	BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding		p.A233A(HCC1569-Tumor)	185		p.A233A(HCC1569-Tumor)	185	297.404534	KEEP	43	53	-1	53	65	43	53	-1	297.83507	53	65	0.450495	1	0	0	0	0	0	0	1	0	--	--		0	A			ACVR1_uc002tzn.3_Silent_p.A233A|ACVR1_uc010fog.2_Silent_p.A233A	14	GBM-06-0128-TP	p.A233A	G	AGATCTTCACGGCAACATTCT	NM_001111067	NP_001104537	158626971	Q04771	ACVR1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.104)	8	1038	-	A	A			Silent	233			Cytoplasmic (Potential).|Protein kinase.			
ACVR1C	0	broad.mit.edu	GRCh37	2	158485147	158485147	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5133-01	TCGA-26-5133-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000243349.8:c.10G>A	p.Ala4Thr	p.A4T	ENST00000243349	NM_001111032.1	4	Gcg/Acg	0			1			T	A/T	uc002tzk.3	protein_coding	YES	CCDS2205.1			10/1482									lung(3)|ovary(2)|skin(2)	7	c.(10-12)GCG>ACG			Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF58	activin A receptor, type IC isoform 1				ENSP00000243349		9-Jan									COSM3406960	9-Jan	.		ENST00000243349	Transcript			apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	ENSG00000123612	g.chr2:158485147C>T	18123			MODERATE		1.795	low	getma.org/?cm=msa&ty=f&p=ACV1C_HUMAN&rb=1&re=55&var=A4T	NA	getma.org/?cm=var&var=hg19,2,158485147,C,T&fts=all	A4T	--	--	1																																		ACVR1C_uc002tzl.3_Missense_Mutation_p.A4T|ACVR1C_uc010fof.2_Missense_Mutation_p.A4T	1	1		possibly_damaging(0.483)	p.A4T	NM_145259	NP_660302		tolerated_low_confidence(0.42)	1	ACV1C_HUMAN	ACVR1C	HGNC	Q8NER5	ACV1C_HUMAN			Q53SF5_HUMAN		1	253	-			UPI000006CFAE	4					SNV	ACVR1C,missense_variant,p.Ala4Thr,ENST00000243349,NM_001111032.1,NM_145259.2;ACVR1C,missense_variant,p.Ala4Thr,ENST00000335450,;ACVR1C,missense_variant,p.Ala4Thr,ENST00000348328,NM_001111033.1;	uc002tzk.3	c.10G>A	371/8994	2	2			c.10G>A						2	SNP	c.(10-12)GCG>ACG	30	30			lung(3)|ovary(2)|skin(2)	7	Broad	activin A receptor, type IC isoform 1			158485147		0.751	ENSG00000123612	221	g.chr2:158485147C>T	apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			127			127	7.632089	KEEP	4	1	-1	1	4	4	1	-1	7.661084	1	4	0.428571	1	0	0	0	0	1	0	0	0	--	--		0	T			ACVR1C_uc002tzl.3_Missense_Mutation_p.A4T|ACVR1C_uc010fof.2_Missense_Mutation_p.A4T	182	GBM-26-5133-TP	p.A4T	C	GAGCAGAGCGCCCGGGTCATC	NM_145259	NP_660302	158485147	Q8NER5	ACV1C_HUMAN	0			1	253	-	T	T			Missense_Mutation	4						
ACVRL1	0	broad.mit.edu	GRCh37	12	52309923	52309923	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0789-01	TCGA-14-0789-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388922.4:c.1152G>A	p.Gln384=	p.Q384=	ENST00000388922	NM_000020.2	384	caG/caA	0			1			A	Q	uc001rzj.2	protein_coding	YES	CCDS31804.1			1152/1512									lung(2)	2	c.(1150-1152)CAG>CAA			PROSITE_profiles:PS50011,hmmpanther:PTHR23255:SF59,hmmpanther:PTHR23255,Gene3D:1.10.510.10,Pfam_domain:PF00069,Superfamily_domains:SSF56112	activin A receptor type II-like 1 precursor	Adenosine triphosphate(DB00171)			ENSP00000373574		10-Aug									COSM3398808,COSM3398807	10-Aug	.	Hereditary_Hemorrhagic_Telangiectasia	ENST00000388922	Transcript	1		blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	ENSG00000139567	g.chr12:52309923G>A	175			LOW								--	--	1																																		ACVRL1_uc001rzk.2_Silent_p.Q384Q|ACVRL1_uc010snm.1_Silent_p.Q210Q	1,1	1			p.Q384Q	NM_000020	NP_000011			1,1	ACVL1_HUMAN	ACVRL1	HGNC	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	D9IPD9_HUMAN,B4DUF0_HUMAN		8	1435	+			UPI000000D9F4	384			Cytoplasmic (Potential).|Protein kinase.		SNV	ACVRL1,synonymous_variant,p.=,ENST00000550683,NM_001077401.1;ACVRL1,synonymous_variant,p.=,ENST00000388922,NM_000020.2;ACVRL1,synonymous_variant,p.=,ENST00000419526,;ACVRL1,synonymous_variant,p.=,ENST00000552678,;ACVRL1,downstream_gene_variant,,ENST00000547400,;ACVRL1,downstream_gene_variant,,ENST00000551576,;ACVRL1,non_coding_transcript_exon_variant,,ENST00000547632,;	uc001rzj.2	c.1152G>A	1435/1971	1	1			c.1152G>A						12	SNP	c.(1150-1152)CAG>CAA	62	62			lung(2)	2	Broad	activin A receptor type II-like 1 precursor		Adenosine triphosphate(DB00171)	52309923	Hereditary_Hemorrhagic_Telangiectasia	0.602	ENSG00000139567	224	g.chr12:52309923G>A	blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			321			321	116.096326	KEEP	26	20	-1	65	61	26	20	-1	123.620719	65	61	0.27439	1	0	0	0	0	0	0	1	0	--	--		0	A			ACVRL1_uc001rzk.2_Silent_p.Q384Q|ACVRL1_uc010snm.1_Silent_p.Q210Q	136	GBM-14-0789-TP	p.Q384Q	G	TGGACGAGCAGATCCGCACGG	NM_000020	NP_000011	52309923	P37023	ACVL1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(357;0.0991)	8	1435	+	A	A			Silent	384			Cytoplasmic (Potential).|Protein kinase.			
ACVRL1	0	broad.mit.edu	GRCh37	12	52312886	52312887	+	missense_variant	Missense_Mutation	DNP	TG	TG	GT			TCGA-14-0813-01	TCGA-14-0813-01	TG	TG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388922.4:c.1364_1365delTGinsGT	p.Leu455Arg	p.L455R	ENST00000388922	NM_000020.2	455	cTG/cGT	0			1			GT	L/R	uc001rzj.2	protein_coding	YES	CCDS31804.1			1364-1365/1512									lung(2)	2	c.(1363-1365)CTG>CGT			PROSITE_profiles:PS50011,hmmpanther:PTHR23255:SF59,hmmpanther:PTHR23255,Gene3D:1.10.510.10,Pfam_domain:PF00069,Superfamily_domains:SSF56112	activin A receptor type II-like 1 precursor	Adenosine triphosphate(DB00171)			ENSP00000373574		10-Sep										10-Sep	.	Hereditary_Hemorrhagic_Telangiectasia	ENST00000388922	Transcript	1		blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	ENSG00000139567	g.chr12:52312886_52312887TG>GT	175			MODERATE								--	--	1																																		ACVRL1_uc001rzk.2_Missense_Mutation_p.L455R|ACVRL1_uc010snm.1_Missense_Mutation_p.L281R		1		probably_damaging(0.999)	p.L455R	NM_000020	NP_000011		deleterious(0)		ACVL1_HUMAN	ACVRL1	HGNC	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	D9IPD9_HUMAN,B4DUF0_HUMAN		9	1647_1648	+			UPI000000D9F4	455			Cytoplasmic (Potential).|Protein kinase.		substitution	ACVRL1,missense_variant,p.Leu469Arg,ENST00000550683,NM_001077401.1;ACVRL1,missense_variant,p.Leu455Arg,ENST00000388922,NM_000020.2;ACVRL1,missense_variant,p.Leu281Arg,ENST00000419526,;ACVRL1,missense_variant,p.Leu124Arg,ENST00000552678,;ACVRL1,downstream_gene_variant,,ENST00000547400,;ACVRL1,upstream_gene_variant,,ENST00000550084,;ACVRL1,non_coding_transcript_exon_variant,,ENST00000547632,;	uc001rzj.2	c.1364_1365TG>GT	1647-1648/1971	3	3			c.1364_1365TG>GT						12	DNP	c.(1363-1365)CTG>CGT	8	8			lung(2)	2	Broad	activin A receptor type II-like 1 precursor		Adenosine triphosphate(DB00171)	52312887	Hereditary_Hemorrhagic_Telangiectasia	0.599	ENSG00000139567	224	g.chr12:52312886_52312887TG>GT	blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			321			321	53.759949	KEEP	0	0	-1	0	0	0	0	-1	56.808452	0	0	0.28169	1	0	0	0	0	1	0	0	0	--	--		0	GT			ACVRL1_uc001rzk.2_Missense_Mutation_p.L455R|ACVRL1_uc010snm.1_Missense_Mutation_p.L281R	138	GBM-14-0813-TP	p.L455R	TG	CCTAACCGGCTGGCTGCAGACC	NM_000020	NP_000011	52312886	P37023	ACVL1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(357;0.0991)	9	1647_1648	+	GT	GT			Missense_Mutation	455			Cytoplasmic (Potential).|Protein kinase.			
ACY1	0	broad.mit.edu	GRCh37	3	52020670	52020670	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-41-5651-01	TCGA-41-5651-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000404366.2:c.576T>C	p.Ser192=	p.S192=	ENST00000404366	NM_000666.2	192	agT/agC	0			1			C	S	uc003dcp.2	protein_coding	YES	CCDS2844.1			576/1227									breast(1)|skin(1)	2	c.(574-576)AGT>AGC			Gene3D:3.40.630.10,Pfam_domain:PF01546,Pfam_domain:PF07687,PIRSF_domain:PIRSF036696,hmmpanther:PTHR11014,hmmpanther:PTHR11014:SF8,Superfamily_domains:SSF53187,TIGRFAM_domain:TIGR01880	aminoacylase 1	L-Aspartic Acid(DB00128)			ENSP00000384296		15-Aug									COSM3408778,COSM3408779	15-Aug	.		ENST00000404366	Transcript	1		cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity	ENSG00000243989	g.chr3:52020670T>C	177			LOW								--	--	1																																		ACY1_uc011bea.1_Silent_p.S282S|ACY1_uc011beb.1_Silent_p.S192S|ACY1_uc003dcq.2_Silent_p.S192S	1,1	1			p.S192S	NM_000666	NP_000657			1,1	ACY1_HUMAN	ACY1	HGNC	Q03154	ACY1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)			8	637	+			UPI00001254AD	192					SNV	ACY1,synonymous_variant,p.=,ENST00000458031,;ABHD14A-ACY1,synonymous_variant,p.=,ENST00000463937,;ACY1,synonymous_variant,p.=,ENST00000404366,NM_000666.2,NM_001198895.1;ACY1,synonymous_variant,p.=,ENST00000476351,NM_001198898.1;ACY1,synonymous_variant,p.=,ENST00000476854,NM_001198897.1;ACY1,synonymous_variant,p.=,ENST00000494103,NM_001198896.1;ACY1,synonymous_variant,p.=,ENST00000469863,;ABHD14B,upstream_gene_variant,,ENST00000483233,;ACY1,non_coding_transcript_exon_variant,,ENST00000464587,;ACY1,downstream_gene_variant,,ENST00000468068,;ACY1,upstream_gene_variant,,ENST00000490244,;ACY1,synonymous_variant,p.=,ENST00000491318,;ABHD14A-ACY1,3_prime_UTR_variant,,ENST00000463721,;ABHD14A-ACY1,3_prime_UTR_variant,,ENST00000486081,;ACY1,non_coding_transcript_exon_variant,,ENST00000465121,;ABHD14A-ACY1,non_coding_transcript_exon_variant,,ENST00000497128,;ACY1,downstream_gene_variant,,ENST00000496679,;	uc003dcp.2	c.576T>C	722/1444	3	3			c.576T>C						3	SNP	c.(574-576)AGT>AGC	7	7			breast(1)|skin(1)	2	Broad	aminoacylase 1		L-Aspartic Acid(DB00128)	52020670		0.368	ENSG00000243989	225	g.chr3:52020670T>C	cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity							130.00874	KEEP	19	30	-1	24	48	19	30	-1	131.301088	24	48	0.380952	1	0	0	0	0	0	0	1	0	--	--		0	C			ACY1_uc011bea.1_Silent_p.S282S|ACY1_uc011beb.1_Silent_p.S192S|ACY1_uc003dcq.2_Silent_p.S192S	258	GBM-41-5651-TP	p.S192S	T	GTGAGCGGAGTCCCTGGTGTA	NM_000666	NP_000657	52020670	Q03154	ACY1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	8	637	+	C	C			Silent	192						
AD000091.2	0	broad.mit.edu	GRCh37	19	15726591	15726591	+	non_coding_transcript_exon_variant,non_coding_transcript_variant	RNA	SNP	G	G	A			TCGA-27-2523-01	TCGA-27-2523-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589787.1:n.560G>A		*187*	ENST00000589787				0	A:0		1			A		uc002nbi.2	lincRNA	YES													large_intestine(1)	1	c.(163-165)CGG>CAG	1227			cytochrome P450, family 4, subfamily F,			A:0.0001				2.47E-05			0.000116		3.04E-05			rs377226039,COSM3403865		.		ENST00000589196	Transcript			prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	ENSG00000266951	g.chr19:15726591G>A				MODIFIER								--	--	1																																		CYP4F8_uc010xoi.1_Missense_Mutation_p.R55Q|CYP4F8_uc010xoj.1_Missense_Mutation_p.G17R	0,1				p.R55Q	NM_007253	NP_009184			0,1		AD000091.2	Clone_based_vega_gene	P98187	CP4F8_HUMAN					2	228	+				55					SNV	AD000091.2,upstream_gene_variant,,ENST00000589196,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000441682,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000589019,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000443973,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000325723,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000592615,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000589787,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000590209,;RPL23AP2,downstream_gene_variant,,ENST00000455510,;RPL23AP2,downstream_gene_variant,,ENST00000471227,;AD000091.3,upstream_gene_variant,,ENST00000592379,;	uc002nbi.2	c.164G>A	-/602	1	1			c.164G>A						19	SNP	c.(163-165)CGG>CAG	62	62			large_intestine(1)	1	Broad	cytochrome P450, family 4, subfamily F,			15726591		0.642	ENSG00000266951	4118	g.chr19:15726591G>A	prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding							124.518856	KEEP	26	23	-1	28	26	26	23	-1	124.542918	28	26	0.481481	1	0	0	0	0	1	0	0	0	--	--		0	A			CYP4F8_uc010xoi.1_Missense_Mutation_p.R55Q|CYP4F8_uc010xoj.1_Missense_Mutation_p.G17R	201	GBM-27-2523-TP	p.R55Q	G	CCGCAGCCCCGGAAACAGAAC	NM_007253	NP_009184	15726591	P98187	CP4F8_HUMAN	0			2	228	+	A	A			Missense_Mutation	55						
AD000091.2	0	broad.mit.edu	GRCh37	19	15728930	15728930	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T			TCGA-41-3392-01	TCGA-41-3392-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589787.1:n.714C>T		*238*	ENST00000589787				0	T:0		1			T		uc002nbi.2	lincRNA	YES													large_intestine(1)	1	c.(316-318)ATC>ATT	3566			cytochrome P450, family 4, subfamily F,			T:0.0001				1.65E-05					3.00E-05			rs375063511,COSM3403866		.		ENST00000589196	Transcript			prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	ENSG00000266951	g.chr19:15728930C>T				MODIFIER								--	--	1																																		CYP4F8_uc010xoi.1_Silent_p.I106I|CYP4F8_uc010xoj.1_Intron	0,1				p.I106I	NM_007253	NP_009184			0,1		AD000091.2	Clone_based_vega_gene	P98187	CP4F8_HUMAN					3	382	+				106					SNV	AD000091.2,upstream_gene_variant,,ENST00000589196,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000441682,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000589019,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000443973,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000592615,;CYP4F8,intron_variant,,ENST00000325723,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000589787,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000590209,;CYP4F8,upstream_gene_variant,,ENST00000589927,;CYP4F8,upstream_gene_variant,,ENST00000587680,;	uc002nbi.2	c.318C>T	-/602	2	2			c.318C>T						19	SNP	c.(316-318)ATC>ATT	17	17			large_intestine(1)	1	Broad	cytochrome P450, family 4, subfamily F,			15728930		0.567	ENSG00000266951	4118	g.chr19:15728930C>T	prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding							224.552312	KEEP	42	39	-1	71	41	42	39	-1	225.127487	71	41	0.437126	1	0	0	0	0	0	0	1	0	--	--		0	T			CYP4F8_uc010xoi.1_Silent_p.I106I|CYP4F8_uc010xoj.1_Intron	254	GBM-41-3392-TP	p.I106I	C	ACCCTGACATCGTCCGATCTG	NM_007253	NP_009184	15728930	P98187	CP4F8_HUMAN	0			3	382	+	T	T			Silent	106						
ADAM10	0	broad.mit.edu	GRCh37	15	58925426	58925426	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260408.3:c.1145C>T	p.Ala382Val	p.A382V	ENST00000260408	NM_001110.2	382	gCt/gTt	0			1			A	A/V	uc002afd.1	protein_coding	YES	CCDS10167.1			1145/2247									skin(2)	2	c.(1144-1146)GCT>GTT			PROSITE_profiles:PS50215,hmmpanther:PTHR11905:SF113,hmmpanther:PTHR11905,Gene3D:3.40.390.10,Pfam_domain:PF13574,Superfamily_domains:SSF55486	ADAM metallopeptidase domain 10 precursor				ENSP00000260408		16-Sep									COSM3401848	16-Sep	.		ENST00000260408	Transcript	1		cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	ENSG00000137845	g.chr15:58925426G>A	188			MODERATE		2.61	medium	getma.org/?cm=msa&ty=f&p=ADA10_HUMAN&rb=239&re=446&var=A382V	getma.org/pdb.php?prot=ADA10_HUMAN&from=239&to=446&var=A382V	getma.org/?cm=var&var=hg19,15,58925426,G,A&fts=all	A382V	--	--	1																																		ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Missense_Mutation_p.A81V|ADAM10_uc002afe.1_Intron	1	1		probably_damaging(0.996)	p.A382V	NM_001110	NP_001101		deleterious(0)	1	ADA10_HUMAN	ADAM10	HGNC	O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)			9	1589	-			UPI00001254C8	382			Peptidase M12B.|Extracellular (Potential).		SNV	ADAM10,missense_variant,p.Ala382Val,ENST00000260408,NM_001110.2;ADAM10,missense_variant,p.Ala81Val,ENST00000396140,;ADAM10,missense_variant,p.Ala81Val,ENST00000559053,;ADAM10,intron_variant,,ENST00000402627,;ADAM10,intron_variant,,ENST00000561288,;ADAM10,upstream_gene_variant,,ENST00000475898,;ADAM10,3_prime_UTR_variant,,ENST00000396136,;	uc002afd.1	c.1145C>T	1589/5034	2	2			c.1145C>T						15	SNP	c.(1144-1146)GCT>GTT	19	19			skin(2)	2	Broad	ADAM metallopeptidase domain 10 precursor			58925426		0.328	ENSG00000137845	233	g.chr15:58925426G>A	cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			515			515	-2.917386	KEEP	2	1	-1	30	24	2	1	-1	6.932159	30	24	0.061224	1	0	0	0	0	1	0	0	0	--	--		0	A			ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Missense_Mutation_p.A81V|ADAM10_uc002afe.1_Intron	159	GBM-19-1390-TP	p.A382V	G	AACTTCGTGAGCAAAAGTAAT	NM_001110	NP_001101	58925426	O14672	ADA10_HUMAN	0		GBM - Glioblastoma multiforme(80;0.202)	9	1589	-	A	A			Missense_Mutation	382			Peptidase M12B.|Extracellular (Potential).			
ADAM10	102		GRCh37	15	58904096	58904096	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-28-2510-01	TCGA-28-2510-01																				ENST00000260408.3:c.1606T>G	p.Cys536Gly	p.C536G	ENST00000260408	NM_001110.2	536	Tgt/Ggt	0																																																																																																																																																																																																																																												
ADAM10	102		GRCh37	15	58957380	58957380	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000260408.3:c.501C>T	p.Tyr167=	p.Y167=	ENST00000260408	NM_001110.2	167	taC/taT	0																																																																																																																																																																																																																																												
ADAM12	0	broad.mit.edu	GRCh37	10	127755335	127755335	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-5213-01	TCGA-28-5213-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368679.4:c.1373T>C	p.Leu458Pro	p.L458P	ENST00000368679	NM_003474.4	458	cTg/cCg	0			1			G	L/P	uc001ljk.2	protein_coding	YES	CCDS7653.1			1373/2730									breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9	c.(1372-1374)CTG>CCG			PROSITE_profiles:PS50214,hmmpanther:PTHR11905:SF112,hmmpanther:PTHR11905,Pfam_domain:PF00200,Gene3D:4.10.70.10,SMART_domains:SM00050,Superfamily_domains:SSF57552	ADAM metallopeptidase domain 12 isoform 1				ENSP00000357668		13/23									COSM3396978,COSM3396977,COSM3396976	13/23	.		ENST00000368679	Transcript			cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	ENSG00000148848	g.chr10:127755335A>G	190			MODERATE		2.845	medium	getma.org/?cm=msa&ty=f&p=ADA12_HUMAN&rb=433&re=508&var=L458P	getma.org/pdb.php?prot=ADA12_HUMAN&from=433&to=508&var=L458P	getma.org/?cm=var&var=hg19,10,127755335,A,G&fts=all	L458P	--	--	1																																		ADAM12_uc010qul.1_Missense_Mutation_p.L409P|ADAM12_uc001ljm.2_Missense_Mutation_p.L458P|ADAM12_uc001ljn.2_Missense_Mutation_p.L455P|ADAM12_uc001ljl.3_Missense_Mutation_p.L455P	1,1,1	1		probably_damaging(1)	p.L458P	NM_003474	NP_003465		deleterious(0)	1,1,1	ADA12_HUMAN	ADAM12	HGNC	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)			13	1786	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	UPI000036672C	458			Extracellular (Potential).|Disintegrin.		SNV	ADAM12,missense_variant,p.Leu458Pro,ENST00000368679,NM_003474.4;ADAM12,missense_variant,p.Leu458Pro,ENST00000368676,NM_021641.3;ADAM12,non_coding_transcript_exon_variant,,ENST00000467145,;ADAM12,non_coding_transcript_exon_variant,,ENST00000482291,;	uc001ljk.2	c.1373T>C	1683/7938	3	3			c.1373T>C						10	SNP	c.(1372-1374)CTG>CCG	64	64			breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9	Broad	ADAM metallopeptidase domain 12 isoform 1			127755335		0.547	ENSG00000148848	235	g.chr10:127755335A>G	cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			1070			1070	-15.657888	KEEP	2	1	-1	53	49	2	1	-1	7.721399	53	49	0.030928	1	0	0	0	0	1	0	0	0	--	--		0	G			ADAM12_uc010qul.1_Missense_Mutation_p.L409P|ADAM12_uc001ljm.2_Missense_Mutation_p.L458P|ADAM12_uc001ljn.2_Missense_Mutation_p.L455P|ADAM12_uc001ljl.3_Missense_Mutation_p.L455P	220	GBM-28-5213-TP	p.L458P	A	GTCCGGCTTCAGGGTACAGGT	NM_003474	NP_003465	127755335	O43184	ADA12_HUMAN	0		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	13	1786	-	G	G		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	Missense_Mutation	458			Extracellular (Potential).|Disintegrin.			
ADAM18	8749	broad.mit.edu	GRCh37	8	39502901	39502901	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0169-01	TCGA-06-0169-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265707.5:c.954T>C	p.Ala318=	p.A318=	ENST00000265707	NM_014237.2	318	gcT/gcC	0			1			C	A	uc003xni.2	protein_coding	YES	CCDS6113.1			954/2220									central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6	c.(952-954)GCT>GCC			PROSITE_profiles:PS50215,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF28,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486	a disintegrin and metalloprotease domain 18				ENSP00000265707		20-Nov									COSM3413012	20-Nov	.		ENST00000265707	Transcript			cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	ENSG00000168619	g.chr8:39502901T>C	196			LOW								--	--	1																																		ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Silent_p.A294A	1	1			p.A318A	NM_014237	NP_055052			1	ADA18_HUMAN	ADAM18	HGNC	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		Q0VAI3_HUMAN,E5RK96_HUMAN		11	954	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	UPI00001254D7	318			Peptidase M12B.|Extracellular (Potential).		SNV	ADAM18,synonymous_variant,p.=,ENST00000265707,NM_014237.2;ADAM18,synonymous_variant,p.=,ENST00000379866,;ADAM18,5_prime_UTR_variant,,ENST00000541111,;ADAM18,3_prime_UTR_variant,,ENST00000520087,;	uc003xni.2	c.954T>C	999/2388	3	3			c.954T>C						8	SNP	c.(952-954)GCT>GCC	51	51			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6	Broad	a disintegrin and metalloprotease domain 18			39502901		0.333	ENSG00000168619	238	g.chr8:39502901T>C	cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			493			493	-51.881016	KEEP	2	1	-1	131	107	2	1	-1	6.562634	131	107	0.013825	1	0	0	0	0	0	0	1	0	--	--		0	C			ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Silent_p.A294A	34	GBM-06-0169-TP	p.A318A	T	TTATTATAGCTCAACTGCTTG	NM_014237	NP_055052	39502901	Q9Y3Q7	ADA18_HUMAN	0	LUSC - Lung squamous cell carcinoma(45;0.000199)		11	954	+	C	C		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	Silent	318			Peptidase M12B.|Extracellular (Potential).			
ADAM2	0	broad.mit.edu	GRCh37	8	39607192	39607192	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-12-1597-01	TCGA-12-1597-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265708.4:c.1869T>C	p.Asp623=	p.D623=	ENST00000265708	NM_001464.4	623	gaT/gaC	0			1			G	D	uc003xnj.2	protein_coding	YES	CCDS34884.1			1869/2208									ovary(1)|lung(1)	2	c.(1867-1869)GAT>GAC			hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF108	ADAM metallopeptidase domain 2 proprotein				ENSP00000265708		17/21									COSM3413013	17/21	.		ENST00000265708	Transcript			cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	ENSG00000104755	g.chr8:39607192A>G	198			LOW								--	--	1																																		ADAM2_uc003xnk.2_Silent_p.D604D|ADAM2_uc011lck.1_Silent_p.D560D|ADAM2_uc003xnl.2_Silent_p.D467D	1	1			p.D623D	NM_001464	NP_001455			1	ADAM2_HUMAN	ADAM2	HGNC	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)			17	1944	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	UPI00001254C2	623			Extracellular (Potential).|EGF-like.		SNV	ADAM2,synonymous_variant,p.=,ENST00000265708,NM_001464.4,NM_001278114.1;ADAM2,synonymous_variant,p.=,ENST00000347580,NM_001278113.1;ADAM2,synonymous_variant,p.=,ENST00000521880,;ADAM2,synonymous_variant,p.=,ENST00000379853,;	uc003xnj.2	c.1869T>C	1973/2672	3	3			c.1869T>C						8	SNP	c.(1867-1869)GAT>GAC	14	14			ovary(1)|lung(1)	2	Broad	ADAM metallopeptidase domain 2 proprotein			39607192		0.294	ENSG00000104755	240	g.chr8:39607192A>G	cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding							124.691749	KEEP	17	25	-1	56	63	17	25	-1	132.281271	56	63	0.260274	1	0	0	0	0	0	0	1	0	--	--		0	G			ADAM2_uc003xnk.2_Silent_p.D604D|ADAM2_uc011lck.1_Silent_p.D560D|ADAM2_uc003xnl.2_Silent_p.D467D	124	GBM-12-1597-TP	p.D623D	A	TTACACCTCTATCATTGCATT	NM_001464	NP_001455	39607192	Q99965	ADAM2_HUMAN	0	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	17	1944	-	G	G		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	Silent	623			Extracellular (Potential).|EGF-like.			
ADAM2	0	broad.mit.edu	GRCh37	8	39626970	39626970	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-2631-01	TCGA-19-2631-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265708.4:c.1153G>T	p.Ala385Ser	p.A385S	ENST00000265708	NM_001464.4	385	Gca/Tca	0			1			A	A/S	uc003xnj.2	protein_coding	YES	CCDS34884.1			1153/2208									ovary(1)|lung(1)	2	c.(1153-1155)GCA>TCA			Gene3D:3.40.390.10,PROSITE_profiles:PS50214,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF108	ADAM metallopeptidase domain 2 proprotein				ENSP00000265708		21-Dec									COSM2156368	21-Dec	.		ENST00000265708	Transcript			cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	ENSG00000104755	g.chr8:39626970C>A	198			MODERATE		1.05	low	getma.org/?cm=msa&ty=f&p=ADAM2_HUMAN&rb=384&re=473&var=A385S	getma.org/pdb.php?prot=ADAM2_HUMAN&from=384&to=473&var=A385S	getma.org/?cm=var&var=hg19,8,39626970,C,A&fts=all	A385S	--	--	1																																		ADAM2_uc003xnk.2_Missense_Mutation_p.A366S|ADAM2_uc011lck.1_Missense_Mutation_p.A385S|ADAM2_uc003xnl.2_Missense_Mutation_p.A259S	1	1		benign(0.006)	p.A385S	NM_001464	NP_001455		tolerated(0.36)	1	ADAM2_HUMAN	ADAM2	HGNC	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)			12	1228	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	UPI00001254C2	385			Extracellular (Potential).|Disintegrin.		SNV	ADAM2,missense_variant,p.Ala385Ser,ENST00000265708,NM_001464.4,NM_001278114.1;ADAM2,missense_variant,p.Ala366Ser,ENST00000347580,NM_001278113.1;ADAM2,missense_variant,p.Ala259Ser,ENST00000379853,;ADAM2,missense_variant,p.Ala385Ser,ENST00000521880,;ADAM2,non_coding_transcript_exon_variant,,ENST00000520434,;	uc003xnj.2	c.1153G>T	1257/2672	1	1			c.1153G>T						8	SNP	c.(1153-1155)GCA>TCA	59	59			ovary(1)|lung(1)	2	Broad	ADAM metallopeptidase domain 2 proprotein			39626970		0.448	ENSG00000104755	240	g.chr8:39626970C>A	cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding							157.411989	KEEP	28	33	0.540983607	23	47	28	33	0.540983607	157.484946	23	47	0.472222	1	0	0	0	0	1	0	0	0	--	--		0	A			ADAM2_uc003xnk.2_Missense_Mutation_p.A366S|ADAM2_uc011lck.1_Missense_Mutation_p.A385S|ADAM2_uc003xnl.2_Missense_Mutation_p.A259S	167	GBM-19-2631-TP	p.A385S	C	CCACACACTGCTTGCTGTTTG	NM_001464	NP_001455	39626970	Q99965	ADAM2_HUMAN	0	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	12	1228	-	A	A		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	Missense_Mutation	385			Extracellular (Potential).|Disintegrin.			
ADAM2	0	broad.mit.edu	GRCh37	8	39678526	39678526	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01	TCGA-28-5204-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265708.4:c.508G>A	p.Val170Ile	p.V170I	ENST00000265708	NM_001464.4	170	Gta/Ata	0			1			T	V/I	uc003xnj.2	protein_coding	YES	CCDS34884.1			508/2208									ovary(1)|lung(1)	2	c.(508-510)GTA>ATA			hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF108	ADAM metallopeptidase domain 2 proprotein				ENSP00000265708		21-Jun	4.94E-05	9.89E-05		0.000233		4.63E-05			rs377755123,COSM3413015	21-Jun	.		ENST00000265708	Transcript			cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	ENSG00000104755	g.chr8:39678526C>T	198			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=ADAM2_HUMAN&rb=142&re=177&var=V170I	NA	getma.org/?cm=var&var=hg19,8,39678526,C,T&fts=all	V170I	--	--	1																																		ADAM2_uc003xnk.2_Missense_Mutation_p.V170I|ADAM2_uc011lck.1_Missense_Mutation_p.V170I|ADAM2_uc003xnl.2_Missense_Mutation_p.V170I	0,1	1		benign(0.001)	p.V170I	NM_001464	NP_001455		tolerated(1)	0,1	ADAM2_HUMAN	ADAM2	HGNC	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)			6	583	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	UPI00001254C2	170	V -> A (in Ref. 2; AAD04206).				SNV	ADAM2,missense_variant,p.Val170Ile,ENST00000265708,NM_001464.4,NM_001278114.1;ADAM2,missense_variant,p.Val170Ile,ENST00000347580,NM_001278113.1;ADAM2,missense_variant,p.Val170Ile,ENST00000379853,;ADAM2,missense_variant,p.Val170Ile,ENST00000521880,;ADAM2,non_coding_transcript_exon_variant,,ENST00000523181,;	uc003xnj.2	c.508G>A	612/2672	2	2			c.508G>A						8	SNP	c.(508-510)GTA>ATA	47	47			ovary(1)|lung(1)	2	Broad	ADAM metallopeptidase domain 2 proprotein			39678526		0.294	ENSG00000104755	240	g.chr8:39678526C>T	cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding							266.835679	KEEP	49	56	-1	24	14	49	56	-1	273.007956	24	14	0.739496	1	0	0	0	0	1	0	0	0	--	--		0	T			ADAM2_uc003xnk.2_Missense_Mutation_p.V170I|ADAM2_uc011lck.1_Missense_Mutation_p.V170I|ADAM2_uc003xnl.2_Missense_Mutation_p.V170I	215	GBM-28-5204-TP	p.V170I	C	CCTACCTCTACGCTTTGTAAT	NM_001464	NP_001455	39678526	Q99965	ADAM2_HUMAN	0	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	6	583	-	T	T		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	Missense_Mutation	170	V -> A (in Ref. 2; AAD04206).					
ADAM2	0	broad.mit.edu	GRCh37	8	39613418	39613418	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265708.4:c.1626C>T	p.Cys542=	p.C542=	ENST00000265708	NM_001464.4	542	tgC/tgT	0		A:0.0023	1	A:0		A	C	uc003xnj.2	protein_coding	YES	CCDS34884.1			1626/2208									ovary(1)|lung(1)	2	c.(1624-1626)TGC>TGT			Pfam_domain:PF08516,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF108,SMART_domains:SM00608	ADAM metallopeptidase domain 2 proprotein		A:0.001		ENSP00000265708	A:0	16/21	9.06E-05	0.000406	8.71E-05	0.000232		4.53E-05		6.09E-05	rs201864039,COSM3413014	16/21	common_variant		ENST00000265708	Transcript		A:0.0008	cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	ENSG00000104755	g.chr8:39613418G>A	198			LOW								--	--	1																																		ADAM2_uc003xnk.2_Silent_p.C523C|ADAM2_uc011lck.1_Intron|ADAM2_uc003xnl.2_Intron	0,1	1			p.C542C	NM_001464	NP_001455	A:0		0,1	ADAM2_HUMAN	ADAM2	HGNC	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)			16	1701	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	UPI00001254C2	542			Extracellular (Potential).|Cys-rich.		SNV	ADAM2,synonymous_variant,p.=,ENST00000265708,NM_001464.4,NM_001278114.1;ADAM2,synonymous_variant,p.=,ENST00000347580,NM_001278113.1;ADAM2,intron_variant,,ENST00000379853,;ADAM2,intron_variant,,ENST00000521880,;AC136365.1,downstream_gene_variant,,ENST00000408091,;	uc003xnj.2	c.1626C>T	1730/2672	1	1			c.1626C>T						8	SNP	c.(1624-1626)TGC>TGT	49	49			ovary(1)|lung(1)	2	Broad	ADAM metallopeptidase domain 2 proprotein			39613418		0.249	ENSG00000104755	240	g.chr8:39613418G>A	cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding							172.963073	KEEP	28	34	-1	47	53	28	34	-1	174.198902	47	53	0.402685	1	0	0	0	0	0	0	1	0	--	--		0	A			ADAM2_uc003xnk.2_Silent_p.C523C|ADAM2_uc011lck.1_Intron|ADAM2_uc003xnl.2_Intron	270	GBM-76-4931-TP	p.C542C	G	TTAATTTTCCGCACTGCAGAT	NM_001464	NP_001455	39613418	Q99965	ADAM2_HUMAN	0	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	16	1701	-	A	A		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	Silent	542			Extracellular (Potential).|Cys-rich.			
ADAM20	0	broad.mit.edu	GRCh37	14	70990596	70990596	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-32-4213-01	TCGA-32-4213-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256389.3:c.1029T>C	p.His343=	p.H343=	ENST00000256389	NM_003814.4	343	caT/caC	0			1			G	H	uc001xme.2	protein_coding	YES	CCDS32111.1			1029/2331									skin(1)	1	c.(1027-1029)CAT>CAC			PROSITE_profiles:PS50215,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF133,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486	ADAM metallopeptidase domain 20 preproprotein				ENSP00000256389		2-Feb									COSM3401445	2-Feb	.		ENST00000256389	Transcript			proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	ENSG00000134007	g.chr14:70990596A>G	199			LOW								--	--	1																																			1	1			p.H343H	NM_003814	NP_003805			1	ADA20_HUMAN	ADAM20	HGNC	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)			2	1274	-			UPI0000183495	293			Peptidase M12B.|Extracellular (Potential).		SNV	ADAM20,synonymous_variant,p.=,ENST00000256389,NM_003814.4;RP11-486O13.4,intron_variant,,ENST00000556646,;	uc001xme.2	c.1029T>C	1274/2795	3	3			c.1029T>C						14	SNP	c.(1027-1029)CAT>CAC	7	7			skin(1)	1	Broad	ADAM metallopeptidase domain 20 preproprotein			70990596		0.368	ENSG00000134007	241	g.chr14:70990596A>G	proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding							-23.075856	KEEP	1	3	-1	48	73	1	3	-1	6.365785	48	73	0.025424	1	0	0	0	0	0	0	1	0	--	--		0	G				247	GBM-32-4213-TP	p.H343H	A	GTGCAACATCATGTTGTAGTC	NM_003814	NP_003805	70990596	O43506	ADA20_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	1274	-	G	G			Silent	293			Peptidase M12B.|Extracellular (Potential).			
ADAM21	0	broad.mit.edu	GRCh37	14	70926319	70926319	+	synonymous_variant	Silent	SNP	C	C	T	rs142273524	byFrequency	TCGA-14-0786-01	TCGA-14-0786-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000603540.1:c.2103C>T	p.Val701=	p.V701=	ENST00000603540	NM_003813.3	701	gtC/gtT	0	T:0.0014	T:0.0015	1	T:0		T	V	uc001xmd.2	protein_coding	YES	CCDS9804.1			2103/2169									pancreas(1)|skin(1)	2	c.(2101-2103)GTC>GTT			hmmpanther:PTHR11905:SF116,hmmpanther:PTHR11905,Transmembrane_helices:TMhelix	ADAM metallopeptidase domain 21 preproprotein		T:0	T:0	ENSP00000474385	T:0	2-Feb	0.000148	0.00165	8.67E-05						rs142273524,COSM3401442,COSM3401443	2-Feb	common_variant		ENST00000603540	Transcript		T:0.0004	proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	ENSG00000139985	g.chr14:70926319C>T	200			LOW								--	--	1																																			0,1,1	1			p.V701V	NM_003813	NP_003804	T:0		0,1,1	ADA21_HUMAN	ADAM21	HGNC	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)			1	2103	+			UPI000013D756	701			Helical; (Potential).		SNV	ADAM21,synonymous_variant,p.=,ENST00000603540,NM_003813.3;ADAM21,synonymous_variant,p.=,ENST00000267499,;RP11-486O13.4,intron_variant,,ENST00000556646,;	uc001xmd.2	c.2103C>T	2361/2658	2	2			c.2103C>T						14	SNP	c.(2101-2103)GTC>GTT	45	45			pancreas(1)|skin(1)	2	Broad	ADAM metallopeptidase domain 21 preproprotein			70926319		0.413	ENSG00000139985	242	g.chr14:70926319C>T	proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding							244.610247	KEEP	48	35	-1	48	52	48	35	-1	244.766107	48	52	0.467456	1	0	0	0	0	0	0	1	0	--	--		0	T				134	GBM-14-0786-TP	p.V701V	C	TGTTTACTGTCGGGCTTCTTA	NM_003813	NP_003804	70926319	Q9UKJ8	ADA21_HUMAN	0		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	1	2103	+	T	T			Silent	701			Helical; (Potential).			
ADAM21P1	145241		GRCh37	14	70712661	70712661	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	C			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000530196.1:n.1858C>G		p.*620*	ENST00000530196				0																																																																																																																																																																																																																																												
ADAM22	0	broad.mit.edu	GRCh37	7	87774461	87774461	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01	TCGA-41-3393-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265727.7:c.1342G>A	p.Gly448Ser	p.G448S	ENST00000265727		448	Ggc/Agc	0			1			A	G/S	uc003ujn.2	protein_coding	YES	CCDS47637.1			1342/2721									ovary(4)|skin(2)|lung(1)|kidney(1)	8	c.(1342-1344)GGC>AGC			PROSITE_profiles:PS50214,hmmpanther:PTHR11905:SF14,hmmpanther:PTHR11905,Gene3D:3.40.390.10	ADAM metallopeptidase domain 22 isoform 1				ENSP00000265727		16/31									COSM3412450,COSM3412448,COSM3412449	16/31	.		ENST00000265727	Transcript			cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	ENSG00000008277	g.chr7:87774461G>A	201			MODERATE		4.49	high	getma.org/?cm=msa&ty=f&p=ADA22_HUMAN&rb=444&re=531&var=G448S	getma.org/pdb.php?prot=ADA22_HUMAN&from=444&to=531&var=G448S	getma.org/?cm=var&var=hg19,7,87774461,G,A&fts=all	G448S	--	--	1																																		ADAM22_uc003ujk.1_Missense_Mutation_p.G448S|ADAM22_uc003ujl.1_Missense_Mutation_p.G448S|ADAM22_uc003ujm.2_Missense_Mutation_p.G448S|ADAM22_uc003ujo.2_Missense_Mutation_p.G448S|ADAM22_uc003ujp.1_Missense_Mutation_p.G500S	1,1,1	1		probably_damaging(0.998)	p.G448S	NM_021723	NP_068369		deleterious(0)	1,1,1	ADA22_HUMAN	ADAM22	HGNC	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		Q9UKK0_HUMAN,Q86UM2_HUMAN,Q75MS7_HUMAN,F8WAD8_HUMAN,D6W5P7_HUMAN		16	1421	+	Esophageal squamous(14;0.00202)		UPI00001254DC	448			Disintegrin.|Extracellular (Potential).		SNV	ADAM22,missense_variant,p.Gly448Ser,ENST00000398204,NM_021723.3,NM_016351.4;ADAM22,missense_variant,p.Gly448Ser,ENST00000398209,NM_021722.4;ADAM22,missense_variant,p.Gly448Ser,ENST00000315984,;ADAM22,missense_variant,p.Gly448Ser,ENST00000265727,;ADAM22,missense_variant,p.Gly448Ser,ENST00000398201,NM_004194.3,NM_021721.3;ADAM22,missense_variant,p.Gly415Ser,ENST00000398203,;	uc003ujn.2	c.1342G>A	1421/2891	2	2			c.1342G>A						7	SNP	c.(1342-1344)GGC>AGC	18	18			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Broad	ADAM metallopeptidase domain 22 isoform 1			87774461		0.408	ENSG00000008277	243	g.chr7:87774461G>A	cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			704			704	95.431575	KEEP	27	21	-1	70	83	27	21	-1	106.106498	70	83	0.23494	1	0	0	0	0	1	0	0	0	--	--		0	A			ADAM22_uc003ujk.1_Missense_Mutation_p.G448S|ADAM22_uc003ujl.1_Missense_Mutation_p.G448S|ADAM22_uc003ujm.2_Missense_Mutation_p.G448S|ADAM22_uc003ujo.2_Missense_Mutation_p.G448S|ADAM22_uc003ujp.1_Missense_Mutation_p.G500S	255	GBM-41-3393-TP	p.G448S	G	TCCTGAGTGTGGCAATGGCTT	NM_021723	NP_068369	87774461	Q9P0K1	ADA22_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.215)		16	1421	+	A	A	Esophageal squamous(14;0.00202)		Missense_Mutation	448			Disintegrin.|Extracellular (Potential).			
ADAM28	10863	broad.mit.edu	GRCh37	8	24200682	24200682	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-06-1804-01	TCGA-06-1804-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265769.4:c.1899C>A	p.Cys633Ter	p.C633*	ENST00000265769	NM_014265.4	633	tgC/tgA	0			1			A	C/*	uc003xdy.2	protein_coding	YES	CCDS34865.1			1899/2328									skin(3)|lung(1)|central_nervous_system(1)	5	c.(1897-1899)TGC>TGA			PROSITE_profiles:PS50026,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF22	ADAM metallopeptidase domain 28 isoform 1				ENSP00000265769		17/23									COSM2152452	17/23	.		ENST00000265769	Transcript			proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	ENSG00000042980	g.chr8:24200682C>A	206			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,8,24200682,C,A&fts=all	C633*	--	--	1																																		ADAM28_uc011laa.1_RNA|ADAM28_uc010lua.2_Nonsense_Mutation_p.C320*	1	1			p.C633*	NM_014265	NP_055080			1	ADA28_HUMAN	ADAM28	HGNC	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	E5RGY1_HUMAN		17	1982	+		Prostate(55;0.0959)	UPI000049E0B9	633			EGF-like.|Extracellular (Potential).		SNV	ADAM28,stop_gained,p.Cys633Ter,ENST00000265769,NM_014265.4;ADAM28,stop_gained,p.Cys380Ter,ENST00000397649,;ADAM28,stop_gained,p.Cys266Ter,ENST00000521629,;ADAM28,stop_gained,p.Cys59Ter,ENST00000518326,;RP11-624C23.1,intron_variant,,ENST00000518988,;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523700,;RP11-624C23.1,intron_variant,,ENST00000523578,;ADAM28,upstream_gene_variant,,ENST00000518737,;ADAM28,3_prime_UTR_variant,,ENST00000520448,;ADAM28,non_coding_transcript_exon_variant,,ENST00000523236,;ADAM28,non_coding_transcript_exon_variant,,ENST00000520665,;	uc003xdy.2	c.1899C>A	2009/7052	5	2			c.1899C>A						8	SNP	c.(1897-1899)TGC>TGA	20	20			skin(3)|lung(1)|central_nervous_system(1)	5	Broad	ADAM metallopeptidase domain 28 isoform 1			24200682		0.358	ENSG00000042980	245	g.chr8:24200682C>A	proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	NSCLC(193;488 2149 22258 34798 40734)		410	NSCLC(193;488 2149 22258 34798 40734)		410	46.824769	KEEP	7	10	0.588235294	9	6	7	10	0.588235294	46.832211	9	6	0.517241	1	0	0	0	0	0	1	0	0	--	--		0	A			ADAM28_uc011laa.1_RNA|ADAM28_uc010lua.2_Nonsense_Mutation_p.C320*	79	GBM-06-1804-TP	p.C633*	C	CATCTAAGTGCAAAGGACATG	NM_014265	NP_055080	24200682	Q9UKQ2	ADA28_HUMAN	0		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	17	1982	+	A	A		Prostate(55;0.0959)	Nonsense_Mutation	633			EGF-like.|Extracellular (Potential).			
ADAM28	0	broad.mit.edu	GRCh37	8	24199174	24199174	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265769.4:c.1734G>T	p.Arg578=	p.R578=	ENST00000265769	NM_014265.4	578	cgG/cgT	0			1			T	R	uc003xdy.2	protein_coding	YES	CCDS34865.1			1734/2328								p.R578R(1)	skin(3)|lung(1)|central_nervous_system(1)	5	c.(1732-1734)CGG>CGT			hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF22,SMART_domains:SM00608	ADAM metallopeptidase domain 28 isoform 1				ENSP00000265769		16/23									COSM2155245	16/23	.		ENST00000265769	Transcript			proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	ENSG00000042980	g.chr8:24199174G>T	206			LOW								--	--	1																																		ADAM28_uc011laa.1_RNA|ADAM28_uc010lua.2_Silent_p.R265R	1	1			p.R578R	NM_014265	NP_055080			1	ADA28_HUMAN	ADAM28	HGNC	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	E5RGY1_HUMAN		16	1817	+		Prostate(55;0.0959)	UPI000049E0B9	578			Extracellular (Potential).|Cys-rich.		SNV	ADAM28,synonymous_variant,p.=,ENST00000265769,NM_014265.4;ADAM28,synonymous_variant,p.=,ENST00000397649,;ADAM28,synonymous_variant,p.=,ENST00000521629,;ADAM28,synonymous_variant,p.=,ENST00000518326,;RP11-624C23.1,intron_variant,,ENST00000518988,;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523700,;RP11-624C23.1,intron_variant,,ENST00000523578,;ADAM28,3_prime_UTR_variant,,ENST00000520448,;ADAM28,non_coding_transcript_exon_variant,,ENST00000523236,;ADAM28,upstream_gene_variant,,ENST00000520665,;	uc003xdy.2	c.1734G>T	1844/7052	2	2			c.1734G>T						8	SNP	c.(1732-1734)CGG>CGT	28	28		p.R578R(1)	skin(3)|lung(1)|central_nervous_system(1)	5	Broad	ADAM metallopeptidase domain 28 isoform 1			24199174		0.423	ENSG00000042980	245	g.chr8:24199174G>T	proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	NSCLC(193;488 2149 22258 34798 40734)		410	NSCLC(193;488 2149 22258 34798 40734)		410	191.202717	KEEP	36	45	0.444444444	67	73	36	45	0.444444444	195.003532	67	73	0.353234	1	0	0	0	0	0	0	1	0	--	--		0	T			ADAM28_uc011laa.1_RNA|ADAM28_uc010lua.2_Silent_p.R265R	142	GBM-14-1034-TP	p.R578R	G	GGAAAGGACGGATAGTGACTT	NM_014265	NP_055080	24199174	Q9UKQ2	ADA28_HUMAN	0		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	16	1817	+	T	T		Prostate(55;0.0959)	Silent	578			Extracellular (Potential).|Cys-rich.			
ADAM28	0	broad.mit.edu	GRCh37	8	24167473	24167473	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-19-5951-01	TCGA-19-5951-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265769.4:c.224delA	p.Asn75ThrfsTer53	p.N75Tfs*53	ENST00000265769	NM_014265.4	73	Aaa/aa	0	-:0.0016		1			-	K/X	uc003xdy.2	protein_coding	YES	CCDS34865.1			217/2328									skin(3)|lung(1)|central_nervous_system(1)	5	c.(217-219)AAAfs			hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF22,Pfam_domain:PF01562	ADAM metallopeptidase domain 28 isoform 1			-:0.001	ENSP00000265769		23-Mar	5.77E-05	0.000304	8.75E-05			3.03E-05			rs770638998,COSM1456183	23-Mar	.		ENST00000265769	Transcript			proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	ENSG00000042980	g.chr8:24167473delA	206	7		HIGH								--	--	1																																		ADAM28_uc003xdx.2_Frame_Shift_Del_p.K73fs|ADAM28_uc011kzz.1_5'UTR|ADAM28_uc011laa.1_RNA	0,1	1			p.K73fs	NM_014265	NP_055080			0,1	ADA28_HUMAN	ADAM28	HGNC	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	E5RGY1_HUMAN		3	300	+		Prostate(55;0.0959)	UPI000049E0B9	73					deletion	ADAM28,frameshift_variant,p.Asn75ThrfsTer53,ENST00000265769,NM_014265.4;ADAM28,frameshift_variant,p.Asn75ThrfsTer53,ENST00000437154,NM_021777.3;ADAM28,5_prime_UTR_variant,,ENST00000397649,;ADAM28,5_prime_UTR_variant,,ENST00000540823,;RP11-624C23.1,intron_variant,,ENST00000518988,;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523700,;RP11-624C23.1,intron_variant,,ENST00000523578,;ADAM28,frameshift_variant,p.Asn75ThrfsTer53,ENST00000520448,;ADAM28,3_prime_UTR_variant,,ENST00000523379,;ADAM28,non_coding_transcript_exon_variant,,ENST00000523440,;	uc003xdy.2	c.217delA	327/7052	5	5			c.217delA						8	DEL	c.(217-219)AAAfs	1	1			skin(3)|lung(1)|central_nervous_system(1)	5	Broad	ADAM metallopeptidase domain 28 isoform 1			24167473		0.333	ENSG00000042980	245	g.chr8:24167473delA	proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	NSCLC(193;488 2149 22258 34798 40734)		410	NSCLC(193;488 2149 22258 34798 40734)		410														0.35	1	1	0	1	0	0	0	0	0	--	--		0	-			ADAM28_uc003xdx.2_Frame_Shift_Del_p.K73fs|ADAM28_uc011kzz.1_5'UTR|ADAM28_uc011laa.1_RNA	171	GBM-19-5951-TP	p.K73fs	A	GCTTTATTTGAAAAAAAACAA	NM_014265	NP_055080	24167473	Q9UKQ2	ADA28_HUMAN	0		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	3	300	+	-	-		Prostate(55;0.0959)	Frame_Shift_Del	73						
ADAM28	0	broad.mit.edu	GRCh37	8	24181418	24181418	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265769.4:c.792G>A	p.Lys264=	p.K264=	ENST00000265769	NM_014265.4	264	aaG/aaA	0			1			A	K	uc003xdy.2	protein_coding	YES	CCDS34865.1			792/2328									skin(3)|lung(1)|central_nervous_system(1)	5	c.(790-792)AAG>AAA			PROSITE_profiles:PS50215,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF22,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486	ADAM metallopeptidase domain 28 isoform 1				ENSP00000265769		23-Sep									COSM3412928,COSM3412927	23-Sep	.		ENST00000265769	Transcript			proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	ENSG00000042980	g.chr8:24181418G>A	206			LOW								--	--	1																																		ADAM28_uc003xdx.2_Silent_p.K264K|ADAM28_uc011kzz.1_Silent_p.K31K|ADAM28_uc011laa.1_RNA|ADAM28_uc010lua.2_5'Flank	1,1	1			p.K264K	NM_014265	NP_055080			1,1	ADA28_HUMAN	ADAM28	HGNC	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	E5RGY1_HUMAN		9	875	+		Prostate(55;0.0959)	UPI000049E0B9	264			Peptidase M12B.|Extracellular (Potential).		SNV	ADAM28,synonymous_variant,p.=,ENST00000265769,NM_014265.4;ADAM28,synonymous_variant,p.=,ENST00000397649,;ADAM28,synonymous_variant,p.=,ENST00000437154,NM_021777.3;ADAM28,synonymous_variant,p.=,ENST00000540823,;RP11-624C23.1,intron_variant,,ENST00000518988,;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523700,;RP11-624C23.1,intron_variant,,ENST00000523578,;ADAM28,non_coding_transcript_exon_variant,,ENST00000518516,;ADAM28,upstream_gene_variant,,ENST00000521110,;ADAM28,3_prime_UTR_variant,,ENST00000520448,;	uc003xdy.2	c.792G>A	902/7052	2	2			c.792G>A						8	SNP	c.(790-792)AAG>AAA	22	22			skin(3)|lung(1)|central_nervous_system(1)	5	Broad	ADAM metallopeptidase domain 28 isoform 1			24181418		0.383	ENSG00000042980	245	g.chr8:24181418G>A	proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	NSCLC(193;488 2149 22258 34798 40734)		410	NSCLC(193;488 2149 22258 34798 40734)		410	103.707488	KEEP	18	20	-1	46	40	18	20	-1	107.315985	46	40	0.313043	1	0	0	0	0	0	0	1	0	--	--		0	A			ADAM28_uc003xdx.2_Silent_p.K264K|ADAM28_uc011kzz.1_Silent_p.K31K|ADAM28_uc011laa.1_RNA|ADAM28_uc010lua.2_5'Flank	232	GBM-32-1982-TP	p.K264K	G	ATAAGATAAAGATAACCCCAA	NM_014265	NP_055080	24181418	Q9UKQ2	ADA28_HUMAN	0		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	9	875	+	A	A		Prostate(55;0.0959)	Silent	264			Peptidase M12B.|Extracellular (Potential).			
ADAM28	0	broad.mit.edu	GRCh37	8	24178776	24178776	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-5222-01	TCGA-32-5222-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265769.4:c.694T>C	p.Phe232Leu	p.F232L	ENST00000265769	NM_014265.4	232	Ttt/Ctt	0			1			C	F/L	uc003xdy.2	protein_coding	YES	CCDS34865.1			694/2328									skin(3)|lung(1)|central_nervous_system(1)	5	c.(694-696)TTT>CTT			PROSITE_profiles:PS50215,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF22,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486	ADAM metallopeptidase domain 28 isoform 1				ENSP00000265769		23-Aug									COSM3412926,COSM3412925	23-Aug	.		ENST00000265769	Transcript			proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	ENSG00000042980	g.chr8:24178776T>C	206			MODERATE		0.405	neutral	getma.org/?cm=msa&ty=f&p=ADA28_HUMAN&rb=204&re=399&var=F232L	getma.org/pdb.php?prot=ADA28_HUMAN&from=204&to=399&var=F232L	getma.org/?cm=var&var=hg19,8,24178776,T,C&fts=all	F232L	--	--	1																																		ADAM28_uc003xdx.2_Missense_Mutation_p.F232L|ADAM28_uc011kzz.1_5'UTR|ADAM28_uc011laa.1_Intron	1,1	1		benign(0.083)	p.F232L	NM_014265	NP_055080		tolerated(0.11)	1,1	ADA28_HUMAN	ADAM28	HGNC	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	E5RGY1_HUMAN		8	777	+		Prostate(55;0.0959)	UPI000049E0B9	232			Peptidase M12B.|Extracellular (Potential).		SNV	ADAM28,missense_variant,p.Phe232Leu,ENST00000265769,NM_014265.4;ADAM28,missense_variant,p.Phe232Leu,ENST00000437154,NM_021777.3;ADAM28,5_prime_UTR_variant,,ENST00000540823,;ADAM28,intron_variant,,ENST00000397649,;RP11-624C23.1,intron_variant,,ENST00000518988,;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523700,;RP11-624C23.1,intron_variant,,ENST00000523578,;ADAM28,upstream_gene_variant,,ENST00000518516,;ADAM28,upstream_gene_variant,,ENST00000521110,;ADAM28,intron_variant,,ENST00000520448,;	uc003xdy.2	c.694T>C	804/7052	3	3			c.694T>C						8	SNP	c.(694-696)TTT>CTT	56	56			skin(3)|lung(1)|central_nervous_system(1)	5	Broad	ADAM metallopeptidase domain 28 isoform 1			24178776		0.323	ENSG00000042980	245	g.chr8:24178776T>C	proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	NSCLC(193;488 2149 22258 34798 40734)		410	NSCLC(193;488 2149 22258 34798 40734)		410	298.713917	KEEP	47	57	-1	77	72	47	57	-1	300.585257	77	72	0.398058	1	0	0	0	0	1	0	0	0	--	--		0	C			ADAM28_uc003xdx.2_Missense_Mutation_p.F232L|ADAM28_uc011kzz.1_5'UTR|ADAM28_uc011laa.1_Intron	249	GBM-32-5222-TP	p.F232L	T	AAAGAGGGTATTTGAGATGGC	NM_014265	NP_055080	24178776	Q9UKQ2	ADA28_HUMAN	0		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	8	777	+	C	C		Prostate(55;0.0959)	Missense_Mutation	232			Peptidase M12B.|Extracellular (Potential).			
ADAM28	0	broad.mit.edu	GRCh37	8	24181517	24181517	+	splice_donor_variant	Splice_Site	SNP	G	G	A	rs138768775		TCGA-41-3393-01	TCGA-41-3393-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265769.4:c.890+1G>A		p.X297_splice	ENST00000265769	NM_014265.4			0	A:0		1			A		uc003xdy.2	protein_coding	YES	CCDS34865.1			890/2328									skin(3)|lung(1)|central_nervous_system(1)	5	c.e9+1				ADAM metallopeptidase domain 28 isoform 1			A:0.0001	ENSP00000265769			1.65E-05					3.02E-05			rs138768775,COSM3412930,COSM3412929		.		ENST00000265769	Transcript			proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	ENSG00000042980	g.chr8:24181517G>A	206			HIGH	22-Sep							--	--	1																																		ADAM28_uc003xdx.2_Splice_Site_p.T297_splice|ADAM28_uc011kzz.1_Splice_Site_p.T64_splice|ADAM28_uc011laa.1_Splice_Site|ADAM28_uc010lua.2_5'Flank	0,1,1	1			p.T297_splice	NM_014265	NP_055080			0,1,1	ADA28_HUMAN	ADAM28	HGNC	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	E5RGY1_HUMAN		9	973	+		Prostate(55;0.0959)	UPI000049E0B9						SNV	ADAM28,splice_donor_variant,,ENST00000265769,NM_014265.4;ADAM28,splice_donor_variant,,ENST00000397649,;ADAM28,splice_donor_variant,,ENST00000437154,NM_021777.3;ADAM28,splice_donor_variant,,ENST00000540823,;RP11-624C23.1,intron_variant,,ENST00000518988,;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523700,;RP11-624C23.1,intron_variant,,ENST00000523578,;ADAM28,splice_donor_variant,,ENST00000518516,;ADAM28,upstream_gene_variant,,ENST00000521110,;ADAM28,splice_donor_variant,,ENST00000520448,;	uc003xdy.2	c.890_splice	-/7052	5	2			c.890_splice						8	SNP	c.e9+1	42	42			skin(3)|lung(1)|central_nervous_system(1)	5	Broad	ADAM metallopeptidase domain 28 isoform 1			24181517		0.423	ENSG00000042980	245	g.chr8:24181517G>A	proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	NSCLC(193;488 2149 22258 34798 40734)		410	NSCLC(193;488 2149 22258 34798 40734)		410	127.497709	KEEP	26	23	-1	59	53	26	23	-1	131.405995	59	53	0.323944	1	0	0	0	0	0	0	0	1	--	--		0	A			ADAM28_uc003xdx.2_Splice_Site_p.T297_splice|ADAM28_uc011kzz.1_Splice_Site_p.T64_splice|ADAM28_uc011laa.1_Splice_Site|ADAM28_uc010lua.2_5'Flank	255	GBM-41-3393-TP	p.T297_splice	G	AGTTAATCACGTATGTACAGA	NM_014265	NP_055080	24181517	Q9UKQ2	ADA28_HUMAN	0		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	9	973	+	A	A		Prostate(55;0.0959)	Splice_Site							
ADAM28	0	broad.mit.edu	GRCh37	8	24199261	24199261	+	synonymous_variant	Silent	SNP	C	C	T	rs149263503	byFrequency	TCGA-41-5651-01	TCGA-41-5651-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265769.4:c.1821C>T	p.Gly607=	p.G607=	ENST00000265769	NM_014265.4	607	ggC/ggT	0	T:0.0009		1			T	G	uc003xdy.2	protein_coding	YES	CCDS34865.1			1821/2328									skin(3)|lung(1)|central_nervous_system(1)	5	c.(1819-1821)GGC>GGT			hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF22,SMART_domains:SM00608	ADAM metallopeptidase domain 28 isoform 1			T:0	ENSP00000265769		16/23	4.12E-05	0.000481							rs149263503,COSM1132776	16/23	common_variant		ENST00000265769	Transcript			proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	ENSG00000042980	g.chr8:24199261C>T	206			LOW								--	--	1																																		ADAM28_uc011laa.1_RNA|ADAM28_uc010lua.2_Silent_p.G294G	0,1	1			p.G607G	NM_014265	NP_055080			0,1	ADA28_HUMAN	ADAM28	HGNC	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	E5RGY1_HUMAN		16	1904	+		Prostate(55;0.0959)	UPI000049E0B9	607			Extracellular (Potential).|Cys-rich.		SNV	ADAM28,synonymous_variant,p.=,ENST00000265769,NM_014265.4;ADAM28,synonymous_variant,p.=,ENST00000397649,;ADAM28,synonymous_variant,p.=,ENST00000521629,;ADAM28,synonymous_variant,p.=,ENST00000518326,;RP11-624C23.1,intron_variant,,ENST00000518988,;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523700,;RP11-624C23.1,intron_variant,,ENST00000523578,;ADAM28,3_prime_UTR_variant,,ENST00000520448,;ADAM28,non_coding_transcript_exon_variant,,ENST00000523236,;ADAM28,upstream_gene_variant,,ENST00000520665,;	uc003xdy.2	c.1821C>T	1931/7052	1	1			c.1821C>T						8	SNP	c.(1819-1821)GGC>GGT	10	10			skin(3)|lung(1)|central_nervous_system(1)	5	Broad	ADAM metallopeptidase domain 28 isoform 1			24199261		0.408	ENSG00000042980	245	g.chr8:24199261C>T	proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	NSCLC(193;488 2149 22258 34798 40734)	p.G607G(PF382-Tumor)	410	NSCLC(193;488 2149 22258 34798 40734)	p.G607G(PF382-Tumor)	410	62.715659	KEEP	10	17	-1	21	22	10	17	-1	63.765119	21	22	0.360656	1	0	0	0	0	0	0	1	0	--	--		0	T			ADAM28_uc011laa.1_RNA|ADAM28_uc010lua.2_Silent_p.G294G	258	GBM-41-5651-TP	p.G607G	C	CTAAGTGTGGCGATAACAAGG	NM_014265	NP_055080	24199261	Q9UKQ2	ADA28_HUMAN	0		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	16	1904	+	T	T		Prostate(55;0.0959)	Silent	607			Extracellular (Potential).|Cys-rich.			
ADAM28	10863		GRCh37	8	24199150	24199150	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000265769.4:c.1710G>A	p.Ser570=	p.S570=	ENST00000265769	NM_014265.4	570	tcG/tcA	0																																																																																																																																																																																																																																												
ADAM29	11086	broad.mit.edu	GRCh37	4	175897289	175897289	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359240.3:c.613G>A	p.Val205Ile	p.V205I	ENST00000359240	NM_014269.4	205	Gtc/Atc	0			1			A	V/I	uc003iuc.2	protein_coding	YES	CCDS3823.1			613/2463								p.V205I(1)	skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16	c.(613-615)GTC>ATC			PROSITE_profiles:PS50215,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF34,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486	ADAM metallopeptidase domain 29 preproprotein				ENSP00000352177		5-May	2.47E-05	9.66E-05				1.50E-05		6.17E-05	rs772388824,COSM32654	5-May	.		ENST00000359240	Transcript			proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	ENSG00000168594	g.chr4:175897289G>A	207			MODERATE		1.96	medium	getma.org/?cm=msa&ty=f&p=ADA29_HUMAN&rb=198&re=389&var=V205I	getma.org/pdb.php?prot=ADA29_HUMAN&from=198&to=389&var=V205I	getma.org/?cm=var&var=hg19,4,175897289,G,A&fts=all	V205I	--	--	1																																		ADAM29_uc003iud.2_Missense_Mutation_p.V205I|ADAM29_uc010irr.2_Missense_Mutation_p.V205I|ADAM29_uc011cki.1_Missense_Mutation_p.V205I	0,1	1		probably_damaging(0.927)	p.V205I	NM_014269	NP_055084		deleterious(0.04)	0,1	ADA29_HUMAN	ADAM29	HGNC	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	D6RHU0_HUMAN,D6RBU0_HUMAN		5	1283	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	UPI000013E9DE	205		V -> I (in a colorectal cancer sample; somatic mutation).	Peptidase M12B.|Extracellular (Potential).		SNV	ADAM29,missense_variant,p.Val205Ile,ENST00000359240,NM_014269.4,NM_001278126.1,NM_001278125.1;ADAM29,missense_variant,p.Val205Ile,ENST00000445694,NM_001130703.1,NM_001278127.1;ADAM29,missense_variant,p.Val205Ile,ENST00000404450,NM_001130704.1;ADAM29,missense_variant,p.Val205Ile,ENST00000514159,NM_001130705.1;ADAM29,downstream_gene_variant,,ENST00000502305,;ADAM29,downstream_gene_variant,,ENST00000505141,;ADAM29,downstream_gene_variant,,ENST00000502940,;RP13-577H12.2,downstream_gene_variant,,ENST00000507525,;ADAM29,downstream_gene_variant,,ENST00000515538,;	uc003iuc.2	c.613G>A	1283/3325	1	1			c.613G>A						4	SNP	c.(613-615)GTC>ATC	50	50		p.V205I(1)	skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16	Broad	ADAM metallopeptidase domain 29 preproprotein			175897289		0.348	ENSG00000168594	246	g.chr4:175897289G>A	proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	Ovarian(140;1727 1835 21805 25838 41440)	p.V205I(SNUC5-Tumor)|p.V205I(HCC2279-Tumor)	106	Ovarian(140;1727 1835 21805 25838 41440)	p.V205I(SNUC5-Tumor)|p.V205I(HCC2279-Tumor)	106	175.903636	KEEP	40	31	-1	57	73	40	31	-1	179.983361	57	73	0.340659	1	0	0	0	0	1	0	0	0	--	--		0	A			ADAM29_uc003iud.2_Missense_Mutation_p.V205I|ADAM29_uc010irr.2_Missense_Mutation_p.V205I|ADAM29_uc011cki.1_Missense_Mutation_p.V205I	8	GBM-02-2486-TP	p.V205I	G	AATTGTAGTCGTCATTGATAA	NM_014269	NP_055084	175897289	Q9UKF5	ADA29_HUMAN	0		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1283	+	A	A		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	Missense_Mutation	205		V -> I (in a colorectal cancer sample; somatic mutation).	Peptidase M12B.|Extracellular (Potential).			
ADAM29	11086	broad.mit.edu	GRCh37	4	175896931	175896931	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0124-01	TCGA-06-0124-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359240.3:c.255C>T	p.Asp85=	p.D85=	ENST00000359240	NM_014269.4	85	gaC/gaT	0			1			T	D	uc003iuc.2	protein_coding	YES	CCDS3823.1			255/2463								p.D85E(1)	skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16	c.(253-255)GAC>GAT			hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF34,Pfam_domain:PF01562	ADAM metallopeptidase domain 29 preproprotein				ENSP00000352177		5-May									COSM2149263	5-May	.		ENST00000359240	Transcript			proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	ENSG00000168594	g.chr4:175896931C>T	207			LOW								--	--	1																																		ADAM29_uc003iud.2_Silent_p.D85D|ADAM29_uc010irr.2_Silent_p.D85D|ADAM29_uc011cki.1_Silent_p.D85D	1	1			p.D85D	NM_014269	NP_055084			1	ADA29_HUMAN	ADAM29	HGNC	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	D6RHU0_HUMAN,D6RBU0_HUMAN		5	925	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	UPI000013E9DE	85					SNV	ADAM29,synonymous_variant,p.=,ENST00000359240,NM_014269.4,NM_001278126.1,NM_001278125.1;ADAM29,synonymous_variant,p.=,ENST00000445694,NM_001130703.1,NM_001278127.1;ADAM29,synonymous_variant,p.=,ENST00000404450,NM_001130704.1;ADAM29,synonymous_variant,p.=,ENST00000514159,NM_001130705.1;ADAM29,synonymous_variant,p.=,ENST00000502940,;ADAM29,downstream_gene_variant,,ENST00000502305,;ADAM29,downstream_gene_variant,,ENST00000505141,;RP13-577H12.2,downstream_gene_variant,,ENST00000507525,;ADAM29,downstream_gene_variant,,ENST00000515538,;	uc003iuc.2	c.255C>T	925/3325	2	2			c.255C>T						4	SNP	c.(253-255)GAC>GAT	25	25		p.D85E(1)	skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16	Broad	ADAM metallopeptidase domain 29 preproprotein			175896931		0.473	ENSG00000168594	246	g.chr4:175896931C>T	proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	Ovarian(140;1727 1835 21805 25838 41440)		106	Ovarian(140;1727 1835 21805 25838 41440)		106	56.820994	KEEP	12	10	-1	27	29	12	10	-1	59.393734	27	29	0.30137	1	0	0	0	0	0	0	1	0	--	--		0	T			ADAM29_uc003iud.2_Silent_p.D85D|ADAM29_uc010irr.2_Silent_p.D85D|ADAM29_uc011cki.1_Silent_p.D85D	11	GBM-06-0124-TP	p.D85D	C	CCTACACAGACCAGGGTGCTA	NM_014269	NP_055084	175896931	Q9UKF5	ADA29_HUMAN	0		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	925	+	T	T		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	Silent	85						
ADAM29	11086	broad.mit.edu	GRCh37	4	175897388	175897388	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs148389603		TCGA-06-0128-01	TCGA-06-0128-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359240.3:c.712G>C	p.Val238Leu	p.V238L	ENST00000359240	NM_014269.4	238	Gtc/Ctc	0	C:0		1			C	V/L	uc003iuc.2	protein_coding	YES	CCDS3823.1			712/2463									skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16	c.(712-714)GTC>CTC			PROSITE_profiles:PS50215,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF34,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486	ADAM metallopeptidase domain 29 preproprotein			C:0.0001	ENSP00000352177		5-May									rs148389603,COSM3409172	5-May	.		ENST00000359240	Transcript			proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	ENSG00000168594	g.chr4:175897388G>C	207			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=ADA29_HUMAN&rb=198&re=389&var=V238L	getma.org/pdb.php?prot=ADA29_HUMAN&from=198&to=389&var=V238L	getma.org/?cm=var&var=hg19,4,175897388,G,C&fts=all	V238L	--	--	1																																		ADAM29_uc003iud.2_Missense_Mutation_p.V238L|ADAM29_uc010irr.2_Missense_Mutation_p.V238L|ADAM29_uc011cki.1_Missense_Mutation_p.V238L	0,1	1		benign(0.065)	p.V238L	NM_014269	NP_055084		tolerated(0.73)	0,1	ADA29_HUMAN	ADAM29	HGNC	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	D6RHU0_HUMAN,D6RBU0_HUMAN		5	1382	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	UPI000013E9DE	238			Peptidase M12B.|Extracellular (Potential).		SNV	ADAM29,missense_variant,p.Val238Leu,ENST00000359240,NM_014269.4,NM_001278126.1,NM_001278125.1;ADAM29,missense_variant,p.Val238Leu,ENST00000445694,NM_001130703.1,NM_001278127.1;ADAM29,missense_variant,p.Val238Leu,ENST00000404450,NM_001130704.1;ADAM29,missense_variant,p.Val238Leu,ENST00000514159,NM_001130705.1;ADAM29,downstream_gene_variant,,ENST00000502305,;ADAM29,downstream_gene_variant,,ENST00000505141,;ADAM29,downstream_gene_variant,,ENST00000502940,;RP13-577H12.2,downstream_gene_variant,,ENST00000507525,;ADAM29,downstream_gene_variant,,ENST00000515538,;	uc003iuc.2	c.712G>C	1382/3325	3	3			c.712G>C						4	SNP	c.(712-714)GTC>CTC	63	63			skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16	Broad	ADAM metallopeptidase domain 29 preproprotein			175897388		0.348	ENSG00000168594	246	g.chr4:175897388G>C	proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	Ovarian(140;1727 1835 21805 25838 41440)		106	Ovarian(140;1727 1835 21805 25838 41440)		106	29.342408	KEEP	16	8	-1	127	100	16	8	-1	65.854169	127	100	0.100437	1	0	0	0	0	1	0	0	0	--	--		0	C			ADAM29_uc003iud.2_Missense_Mutation_p.V238L|ADAM29_uc010irr.2_Missense_Mutation_p.V238L|ADAM29_uc011cki.1_Missense_Mutation_p.V238L	14	GBM-06-0128-TP	p.V238L	G	CATTTTGGATGTCATTGGTGT	NM_014269	NP_055084	175897388	Q9UKF5	ADA29_HUMAN	0		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1382	+	C	C		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	Missense_Mutation	238			Peptidase M12B.|Extracellular (Potential).			
ADAM29	11086	broad.mit.edu	GRCh37	4	175896768	175896768	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01	TCGA-06-0158-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359240.3:c.92C>T	p.Pro31Leu	p.P31L	ENST00000359240	NM_014269.4	31	cCg/cTg	0			1			T	P/L	uc003iuc.2	protein_coding	YES	CCDS3823.1			92/2463								p.P31L(1)	skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16	c.(91-93)CCG>CTG			hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF34	ADAM metallopeptidase domain 29 preproprotein				ENSP00000352177		5-May	9.06E-05		0.000174			9.23E-05		0.00024	rs544557652,COSM33298	5-May	.		ENST00000359240	Transcript			proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	ENSG00000168594	g.chr4:175896768C>T	207			MODERATE		2.165	medium	getma.org/?cm=msa&ty=f&p=ADA29_HUMAN&rb=31&re=150&var=P31L	NA	getma.org/?cm=var&var=hg19,4,175896768,C,T&fts=all	P31L	--	--	1																																		ADAM29_uc003iud.2_Missense_Mutation_p.P31L|ADAM29_uc010irr.2_Missense_Mutation_p.P31L|ADAM29_uc011cki.1_Missense_Mutation_p.P31L	0,1	1		possibly_damaging(0.848)	p.P31L	NM_014269	NP_055084		deleterious(0.03)	0,1	ADA29_HUMAN	ADAM29	HGNC	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	D6RHU0_HUMAN,D6RBU0_HUMAN		5	762	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	UPI000013E9DE	31		P -> L (in a colorectal cancer sample; somatic mutation).			SNV	ADAM29,missense_variant,p.Pro31Leu,ENST00000359240,NM_014269.4,NM_001278126.1,NM_001278125.1;ADAM29,missense_variant,p.Pro31Leu,ENST00000445694,NM_001130703.1,NM_001278127.1;ADAM29,missense_variant,p.Pro31Leu,ENST00000404450,NM_001130704.1;ADAM29,missense_variant,p.Pro31Leu,ENST00000514159,NM_001130705.1;ADAM29,missense_variant,p.Pro31Leu,ENST00000502305,;ADAM29,missense_variant,p.Pro31Leu,ENST00000502940,;ADAM29,downstream_gene_variant,,ENST00000505141,;RP13-577H12.2,downstream_gene_variant,,ENST00000507525,;ADAM29,downstream_gene_variant,,ENST00000515538,;	uc003iuc.2	c.92C>T	762/3325	1	1			c.92C>T						4	SNP	c.(91-93)CCG>CTG	14	14		p.P31L(1)	skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16	Broad	ADAM metallopeptidase domain 29 preproprotein			175896768		0.517	ENSG00000168594	246	g.chr4:175896768C>T	proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	Ovarian(140;1727 1835 21805 25838 41440)	p.P31L(SNUC4-Tumor)	106	Ovarian(140;1727 1835 21805 25838 41440)	p.P31L(SNUC4-Tumor)	106	2.452933	KEEP	3	7	-1	66	61	3	7	-1	24.942641	66	61	0.08	1	0	0	0	0	1	0	0	0	--	--		0	T			ADAM29_uc003iud.2_Missense_Mutation_p.P31L|ADAM29_uc010irr.2_Missense_Mutation_p.P31L|ADAM29_uc011cki.1_Missense_Mutation_p.P31L	29	GBM-06-0158-TP	p.P31L	C	CACAGCCCTCCGGATGTGGTG	NM_014269	NP_055084	175896768	Q9UKF5	ADA29_HUMAN	0		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	762	+	T	T		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	Missense_Mutation	31		P -> L (in a colorectal cancer sample; somatic mutation).				
ADAM29	11086	broad.mit.edu	GRCh37	4	175897719	175897719	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359240.3:c.1043G>A	p.Arg348His	p.R348H	ENST00000359240	NM_014269.4	348	cGt/cAt	0	A:0.0002		1			A	R/H	uc003iuc.2	protein_coding	YES	CCDS3823.1			1043/2463									skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16	c.(1042-1044)CGT>CAT			PROSITE_profiles:PS50215,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF34,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486	ADAM metallopeptidase domain 29 preproprotein			A:0.0002	ENSP00000352177		5-May	0.000115	0.000193			0.000605	0.000123			rs201308805,COSM3337001	5-May	common_variant		ENST00000359240	Transcript			proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	ENSG00000168594	g.chr4:175897719G>A	207			MODERATE		0.305	neutral	getma.org/?cm=msa&ty=f&p=ADA29_HUMAN&rb=198&re=389&var=R348H	getma.org/pdb.php?prot=ADA29_HUMAN&from=198&to=389&var=R348H	getma.org/?cm=var&var=hg19,4,175897719,G,A&fts=all	R348H	--	--	1																																		ADAM29_uc003iud.2_Missense_Mutation_p.R348H|ADAM29_uc010irr.2_Missense_Mutation_p.R348H|ADAM29_uc011cki.1_Missense_Mutation_p.R348H	0,1	1		benign(0.157)	p.R348H	NM_014269	NP_055084		tolerated(0.06)	0,1	ADA29_HUMAN	ADAM29	HGNC	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	D6RHU0_HUMAN,D6RBU0_HUMAN		5	1713	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	UPI000013E9DE	348			Peptidase M12B.|Extracellular (Potential).		SNV	ADAM29,missense_variant,p.Arg348His,ENST00000359240,NM_014269.4,NM_001278126.1,NM_001278125.1;ADAM29,missense_variant,p.Arg348His,ENST00000445694,NM_001130703.1,NM_001278127.1;ADAM29,missense_variant,p.Arg348His,ENST00000404450,NM_001130704.1;ADAM29,missense_variant,p.Arg348His,ENST00000514159,NM_001130705.1;ADAM29,downstream_gene_variant,,ENST00000502305,;ADAM29,downstream_gene_variant,,ENST00000505141,;ADAM29,downstream_gene_variant,,ENST00000502940,;RP13-577H12.2,downstream_gene_variant,,ENST00000507525,;ADAM29,downstream_gene_variant,,ENST00000515538,;	uc003iuc.2	c.1043G>A	1713/3325	2	2			c.1043G>A						4	SNP	c.(1042-1044)CGT>CAT	48	48			skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16	Broad	ADAM metallopeptidase domain 29 preproprotein			175897719		0.373	ENSG00000168594	246	g.chr4:175897719G>A	proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	Ovarian(140;1727 1835 21805 25838 41440)		106	Ovarian(140;1727 1835 21805 25838 41440)		106	140.484164	KEEP	38	27	-1	119	115	38	27	-1	159.043846	119	115	0.223485	1	0	0	0	0	1	0	0	0	--	--		0	A			ADAM29_uc003iud.2_Missense_Mutation_p.R348H|ADAM29_uc010irr.2_Missense_Mutation_p.R348H|ADAM29_uc011cki.1_Missense_Mutation_p.R348H	46	GBM-06-0209-TP	p.R348H	G	GATACATGTCGTTGTTCACAA	NM_014269	NP_055084	175897719	Q9UKF5	ADA29_HUMAN	0		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1713	+	A	A		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	Missense_Mutation	348			Peptidase M12B.|Extracellular (Potential).			
ADAM29	0	broad.mit.edu	GRCh37	4	175898963	175898963	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-19-5955-01	TCGA-19-5955-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359240.3:c.2287G>C	p.Val763Leu	p.V763L	ENST00000359240	NM_014269.4	763	Gtg/Ctg	0			1			C	V/L	uc003iuc.2	protein_coding	YES	CCDS3823.1			2287/2463									skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16	c.(2287-2289)GTG>CTG			Low_complexity_(Seg):seg,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF34	ADAM metallopeptidase domain 29 preproprotein				ENSP00000352177		5-May									COSM3409174	5-May	.		ENST00000359240	Transcript			proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	ENSG00000168594	g.chr4:175898963G>C	207			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=ADA29_HUMAN&rb=599&re=798&var=V763L	NA	getma.org/?cm=var&var=hg19,4,175898963,G,C&fts=all	V763L	--	--	1																																		ADAM29_uc003iud.2_Missense_Mutation_p.V763L|ADAM29_uc010irr.2_Missense_Mutation_p.V763L|ADAM29_uc011cki.1_Missense_Mutation_p.V763L	1	1		benign(0)	p.V763L	NM_014269	NP_055084		tolerated(0.3)	1	ADA29_HUMAN	ADAM29	HGNC	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	D6RHU0_HUMAN,D6RBU0_HUMAN		5	2957	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	UPI000013E9DE	763			Cytoplasmic (Potential).|9 X 9 AA approximate repeats.|3.		SNV	ADAM29,missense_variant,p.Val763Leu,ENST00000359240,NM_014269.4,NM_001278126.1,NM_001278125.1;ADAM29,missense_variant,p.Val763Leu,ENST00000445694,NM_001130703.1,NM_001278127.1;ADAM29,missense_variant,p.Val763Leu,ENST00000404450,NM_001130704.1;ADAM29,missense_variant,p.Val763Leu,ENST00000514159,NM_001130705.1;ADAM29,downstream_gene_variant,,ENST00000502305,;ADAM29,downstream_gene_variant,,ENST00000505141,;ADAM29,downstream_gene_variant,,ENST00000502940,;RP13-577H12.2,intron_variant,,ENST00000507525,;ADAM29,downstream_gene_variant,,ENST00000515538,;	uc003iuc.2	c.2287G>C	2957/3325	3	3			c.2287G>C						4	SNP	c.(2287-2289)GTG>CTG	52	52			skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16	Broad	ADAM metallopeptidase domain 29 preproprotein			175898963		0.567	ENSG00000168594	246	g.chr4:175898963G>C	proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	Ovarian(140;1727 1835 21805 25838 41440)		106	Ovarian(140;1727 1835 21805 25838 41440)		106	57.305832	KEEP	10	18	-1	64	92	10	18	-1	75.39711	64	92	0.152866	1	0	0	0	0	1	0	0	0	--	--		0	C			ADAM29_uc003iud.2_Missense_Mutation_p.V763L|ADAM29_uc010irr.2_Missense_Mutation_p.V763L|ADAM29_uc011cki.1_Missense_Mutation_p.V763L	175	GBM-19-5955-TP	p.V763L	G	TCAACCTCCTGTGACACCCTC	NM_014269	NP_055084	175898963	Q9UKF5	ADA29_HUMAN	0		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	2957	+	C	C		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	Missense_Mutation	763			Cytoplasmic (Potential).|9 X 9 AA approximate repeats.|3.			
ADAM29	0	broad.mit.edu	GRCh37	4	175897289	175897289	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01	TCGA-27-2527-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359240.3:c.613G>A	p.Val205Ile	p.V205I	ENST00000359240	NM_014269.4	205	Gtc/Atc	0			1			A	V/I	uc003iuc.2	protein_coding	YES	CCDS3823.1			613/2463								p.V205I(1)	skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16	c.(613-615)GTC>ATC			PROSITE_profiles:PS50215,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF34,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486	ADAM metallopeptidase domain 29 preproprotein				ENSP00000352177		5-May	2.47E-05	9.66E-05				1.50E-05		6.17E-05	rs772388824,COSM32654	5-May	.		ENST00000359240	Transcript			proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	ENSG00000168594	g.chr4:175897289G>A	207			MODERATE		1.96	medium	getma.org/?cm=msa&ty=f&p=ADA29_HUMAN&rb=198&re=389&var=V205I	getma.org/pdb.php?prot=ADA29_HUMAN&from=198&to=389&var=V205I	getma.org/?cm=var&var=hg19,4,175897289,G,A&fts=all	V205I	--	--	1																																		ADAM29_uc003iud.2_Missense_Mutation_p.V205I|ADAM29_uc010irr.2_Missense_Mutation_p.V205I|ADAM29_uc011cki.1_Missense_Mutation_p.V205I	0,1	1		probably_damaging(0.927)	p.V205I	NM_014269	NP_055084		deleterious(0.04)	0,1	ADA29_HUMAN	ADAM29	HGNC	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	D6RHU0_HUMAN,D6RBU0_HUMAN		5	1283	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	UPI000013E9DE	205		V -> I (in a colorectal cancer sample; somatic mutation).	Peptidase M12B.|Extracellular (Potential).		SNV	ADAM29,missense_variant,p.Val205Ile,ENST00000359240,NM_014269.4,NM_001278126.1,NM_001278125.1;ADAM29,missense_variant,p.Val205Ile,ENST00000445694,NM_001130703.1,NM_001278127.1;ADAM29,missense_variant,p.Val205Ile,ENST00000404450,NM_001130704.1;ADAM29,missense_variant,p.Val205Ile,ENST00000514159,NM_001130705.1;ADAM29,downstream_gene_variant,,ENST00000502305,;ADAM29,downstream_gene_variant,,ENST00000505141,;ADAM29,downstream_gene_variant,,ENST00000502940,;RP13-577H12.2,downstream_gene_variant,,ENST00000507525,;ADAM29,downstream_gene_variant,,ENST00000515538,;	uc003iuc.2	c.613G>A	1283/3325	1	1			c.613G>A						4	SNP	c.(613-615)GTC>ATC	50	50		p.V205I(1)	skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16	Broad	ADAM metallopeptidase domain 29 preproprotein			175897289		0.348	ENSG00000168594	246	g.chr4:175897289G>A	proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	Ovarian(140;1727 1835 21805 25838 41440)	p.V205I(SNUC5-Tumor)|p.V205I(HCC2279-Tumor)	106	Ovarian(140;1727 1835 21805 25838 41440)	p.V205I(SNUC5-Tumor)|p.V205I(HCC2279-Tumor)	106	39.987953	KEEP	20	6	-1	70	77	20	6	-1	59.025351	70	77	0.149068	1	0	0	0	0	1	0	0	0	--	--		0	A			ADAM29_uc003iud.2_Missense_Mutation_p.V205I|ADAM29_uc010irr.2_Missense_Mutation_p.V205I|ADAM29_uc011cki.1_Missense_Mutation_p.V205I	204	GBM-27-2527-TP	p.V205I	G	AATTGTAGTCGTCATTGATAA	NM_014269	NP_055084	175897289	Q9UKF5	ADA29_HUMAN	0		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1283	+	A	A		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	Missense_Mutation	205		V -> I (in a colorectal cancer sample; somatic mutation).	Peptidase M12B.|Extracellular (Potential).			
ADAM30	0	broad.mit.edu	GRCh37	1	120437661	120437661	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-41-2572-01	TCGA-41-2572-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369400.1:c.1299G>T	p.Leu433Phe	p.L433F	ENST00000369400	NM_021794.3	433	ttG/ttT	0			1			A	L/F	uc001eij.2	protein_coding	YES	CCDS907.1			1299/2373									ovary(2)|lung(1)	3	c.(1297-1299)TTG>TTT			Pfam_domain:PF00200,PROSITE_profiles:PS50214,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF31,SMART_domains:SM00050,Superfamily_domains:SSF57552	ADAM metallopeptidase domain 30 preproprotein				ENSP00000358407		1-Jan									COSM3399608	1-Jan	.		ENST00000369400	Transcript			proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	ENSG00000134249	g.chr1:120437661C>A	208			MODERATE		1.015	low	getma.org/?cm=msa&ty=f&p=ADA30_HUMAN&rb=408&re=483&var=L433F	getma.org/pdb.php?prot=ADA30_HUMAN&from=408&to=483&var=L433F	getma.org/?cm=var&var=hg19,1,120437661,C,A&fts=all	L433F	--	--	1																																			1	1		benign(0.364)	p.L433F	NM_021794	NP_068566		tolerated(0.35)	1	ADA30_HUMAN	ADAM30	HGNC	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)			1	1453	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	UPI000004C638	433			Disintegrin.|Extracellular (Potential).		SNV	ADAM30,missense_variant,p.Leu433Phe,ENST00000369400,NM_021794.3;	uc001eij.2	c.1299G>T	1458/2963	2	2			c.1299G>T						1	SNP	c.(1297-1299)TTG>TTT	21	21			ovary(2)|lung(1)	3	Broad	ADAM metallopeptidase domain 30 preproprotein			120437661		0.453	ENSG00000134249	247	g.chr1:120437661C>A	proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding							276.886055	KEEP	43	64	0.598130841	101	119	43	64	0.598130841	284.776985	101	119	0.328947	1	0	0	0	0	1	0	0	0	--	--		0	A				251	GBM-41-2572-TP	p.L433F	C	CACCTGGTTGCAACTTACAAT	NM_021794	NP_068566	120437661	Q9UKF2	ADA30_HUMAN	0		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	1453	-	A	A	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	Missense_Mutation	433			Disintegrin.|Extracellular (Potential).			
ADAM30	11085		GRCh37	1	120438344	120438344	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000369400.1:c.616G>C	p.Glu206Gln	p.E206Q	ENST00000369400	NM_021794.3	206	Gaa/Caa	0																																																																																																																																																																																																																																												
ADAM32	203102	broad.mit.edu	GRCh37	8	39080734	39080734	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0875-01	TCGA-06-0875-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379907.4:c.1502G>A	p.Arg501His	p.R501H	ENST00000379907	NM_145004.5	501	cGt/cAt	0			1			A	R/H	uc003xmt.3	protein_coding	YES	CCDS47846.1			1502/2364									ovary(1)|lung(1)|kidney(1)	3	c.(1501-1503)CGT>CAT			hmmpanther:PTHR11905:SF24,hmmpanther:PTHR11905,Pfam_domain:PF08516,SMART_domains:SM00608	a disintegrin and metalloprotease domain 32				ENSP00000369238		14/25	8.28E-06	0.000144							rs762485084,COSM2152039	14/25	.		ENST00000379907	Transcript			proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	ENSG00000197140	g.chr8:39080734G>A	15479			MODERATE		0.42	neutral	getma.org/?cm=msa&ty=f&p=ADA32_HUMAN&rb=479&re=596&var=R501H	getma.org/pdb.php?prot=ADA32_HUMAN&from=479&to=596&var=R501H	getma.org/?cm=var&var=hg19,8,39080734,G,A&fts=all	R501H	--	--	1																																		ADAM32_uc011lch.1_Missense_Mutation_p.R402H|ADAM32_uc003xmu.3_Missense_Mutation_p.R395H|ADAM32_uc003xmv.2_Missense_Mutation_p.V23I	0,1	1		benign(0.067)	p.R501H	NM_145004	NP_659441		tolerated(0.24)	0,1	ADA32_HUMAN	ADAM32	HGNC	Q8TC27	ADA32_HUMAN	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)		E5RJY7_HUMAN		14	1747	+		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	UPI000013F62F	501			Extracellular (Potential).|Cys-rich.		SNV	ADAM32,missense_variant,p.Arg501His,ENST00000379907,NM_145004.5;ADAM32,missense_variant,p.Arg402His,ENST00000437682,;ADAM32,missense_variant,p.Arg395His,ENST00000519315,;ADAM32,non_coding_transcript_exon_variant,,ENST00000518259,;ADAM32,non_coding_transcript_exon_variant,,ENST00000520691,;	uc003xmt.3	c.1502G>A	1629/2601	1	1			c.1502G>A						8	SNP	c.(1501-1503)CGT>CAT	52	52			ovary(1)|lung(1)|kidney(1)	3	Broad	a disintegrin and metalloprotease domain 32			39080734		0.338	ENSG00000197140	248	g.chr8:39080734G>A	proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding		p.R501Q(NCIH2106-Tumor)	1163		p.R501Q(NCIH2106-Tumor)	1163	33.820457	KEEP	8	6	-1	12	6	8	6	-1	33.954774	12	6	0.423077	1	0	0	0	0	1	0	0	0	--	--		0	A			ADAM32_uc011lch.1_Missense_Mutation_p.R402H|ADAM32_uc003xmu.3_Missense_Mutation_p.R395H|ADAM32_uc003xmv.2_Missense_Mutation_p.V23I	71	GBM-06-0875-TP	p.R501H	G	CTCGATGCACGTTGTGAGAGT	NM_145004	NP_659441	39080734	Q8TC27	ADA32_HUMAN	0	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)		14	1747	+	A	A		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	Missense_Mutation	501			Extracellular (Potential).|Cys-rich.			
ADAM32	0	broad.mit.edu	GRCh37	8	39111964	39111964	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01	TCGA-32-2632-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379907.4:c.1934C>T	p.Ser645Leu	p.S645L	ENST00000379907	NM_145004.5	645	tCg/tTg	0			1			T	S/L	uc003xmt.3	protein_coding	YES	CCDS47846.1			1934/2364									ovary(1)|lung(1)|kidney(1)	3	c.(1933-1935)TCG>TTG			PROSITE_profiles:PS50026,hmmpanther:PTHR11905:SF24,hmmpanther:PTHR11905,PROSITE_patterns:PS01186,Gene3D:2.10.25.10	a disintegrin and metalloprotease domain 32				ENSP00000369238		18/25	2.49E-05					9.65E-05			rs757189886,COSM1099734	18/25	.		ENST00000379907	Transcript			proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	ENSG00000197140	g.chr8:39111964C>T	15479			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=ADA32_HUMAN&rb=622&re=654&var=S645L	NA	getma.org/?cm=var&var=hg19,8,39111964,C,T&fts=all	S645L	--	--	1																																		ADAM32_uc011lch.1_Missense_Mutation_p.S546L|ADAM32_uc003xmu.3_Missense_Mutation_p.S539L|ADAM32_uc003xmv.2_Missense_Mutation_p.S69L	0,1	1		benign(0.09)	p.S645L	NM_145004	NP_659441		tolerated(0.67)	0,1	ADA32_HUMAN	ADAM32	HGNC	Q8TC27	ADA32_HUMAN	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)		E5RJY7_HUMAN		18	2179	+		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	UPI000013F62F	645			EGF-like.|Extracellular (Potential).		SNV	ADAM32,missense_variant,p.Ser645Leu,ENST00000379907,NM_145004.5;ADAM32,missense_variant,p.Ser546Leu,ENST00000437682,;ADAM32,missense_variant,p.Ser539Leu,ENST00000519315,;ADAM32,non_coding_transcript_exon_variant,,ENST00000520691,;	uc003xmt.3	c.1934C>T	2061/2601	2	2			c.1934C>T						8	SNP	c.(1933-1935)TCG>TTG	35	35			ovary(1)|lung(1)|kidney(1)	3	Broad	a disintegrin and metalloprotease domain 32			39111964		0.363	ENSG00000197140	248	g.chr8:39111964C>T	proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			1163			1163	8.384954	KEEP	3	2	-1	13	10	3	2	-1	10.69403	13	10	0.173913	1	0	0	0	0	1	0	0	0	--	--		0	T			ADAM32_uc011lch.1_Missense_Mutation_p.S546L|ADAM32_uc003xmu.3_Missense_Mutation_p.S539L|ADAM32_uc003xmv.2_Missense_Mutation_p.S69L	240	GBM-32-2632-TP	p.S645L	C	TGCCATTGTTCGCCAGGCTAT	NM_145004	NP_659441	39111964	Q8TC27	ADA32_HUMAN	0	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)		18	2179	+	T	T		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	Missense_Mutation	645			EGF-like.|Extracellular (Potential).			
ADAM33	80332		GRCh37	20	3652076	3652076	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000356518.2:c.1973A>G	p.His658Arg	p.H658R	ENST00000356518	NM_025220.2	658	cAc/cGc	0																																																																																																																																																																																																																																												
ADAM33	80332		GRCh37	20	3655285	3655285	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000356518.2:c.466C>T	p.Arg156Trp	p.R156W	ENST00000356518	NM_025220.2	156	Cgg/Tgg	0																																																																																																																																																																																																																																												
ADAM7	0	broad.mit.edu	GRCh37	8	24357714	24357714	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-12-3649-01	TCGA-12-3649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000175238.6:c.1947C>A	p.Cys649Ter	p.C649*	ENST00000175238	NM_003817.3	649	tgC/tgA	0			1			A	C/*	uc003xeb.2	protein_coding	YES	CCDS6045.1			1947/2265									skin(3)|ovary(1)|kidney(1)	5	c.(1945-1947)TGC>TGA			hmmpanther:PTHR11905:SF21,hmmpanther:PTHR11905	a disintegrin and metalloproteinase domain 7				ENSP00000175238		18/22									COSM378821	18/22	.		ENST00000175238	Transcript			proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	ENSG00000069206	g.chr8:24357714C>A	214			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,8,24357714,C,A&fts=all	C649*	--	--	1																																		ADAM7_uc003xec.2_Nonsense_Mutation_p.C421*	1	1			p.C649*	NM_003817	NP_003808			1	ADAM7_HUMAN	ADAM7	HGNC	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)			18	2060	+		Prostate(55;0.0181)	UPI000013C5CC	649			Extracellular (Potential).|Cys-rich.		SNV	ADAM7,stop_gained,p.Cys649Ter,ENST00000175238,NM_003817.3;ADAM7,stop_gained,p.Cys649Ter,ENST00000380789,;ADAM7,stop_gained,p.Cys421Ter,ENST00000520720,;RP11-561E1.1,intron_variant,,ENST00000519364,;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523578,;	uc003xeb.2	c.1947C>A	2030/3367	5	1			c.1947C>A						8	SNP	c.(1945-1947)TGC>TGA	49	49			skin(3)|ovary(1)|kidney(1)	5	Broad	a disintegrin and metalloproteinase domain 7			24357714		0.328	ENSG00000069206	250	g.chr8:24357714C>A	proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding							26.72504	KEEP	3	8	0.727272727	10	12	3	8	0.727272727	27.470601	10	12	0.333333	1	0	0	0	0	0	1	0	0	--	--		0	A			ADAM7_uc003xec.2_Nonsense_Mutation_p.C421*	125	GBM-12-3649-TP	p.C649*	C	gaCTCCAGTGCCACTGTGAGG	NM_003817	NP_003808	24357714	Q9H2U9	ADAM7_HUMAN	0		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	18	2060	+	A	A		Prostate(55;0.0181)	Nonsense_Mutation	649			Extracellular (Potential).|Cys-rich.			
ADAM7	0	broad.mit.edu	GRCh37	8	24324411	24324411	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-5135-01	TCGA-26-5135-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000175238.6:c.489G>A	p.Pro163=	p.P163=	ENST00000175238	NM_003817.3	163	ccG/ccA	0			1			A	P	uc003xeb.2	protein_coding	YES	CCDS6045.1			489/2265									skin(3)|ovary(1)|kidney(1)	5	c.(487-489)CCG>CCA			hmmpanther:PTHR11905:SF21,hmmpanther:PTHR11905	a disintegrin and metalloproteinase domain 7				ENSP00000175238		22-Jun	8.24E-06					1.50E-05			rs776521318,COSM1098331	22-Jun	.		ENST00000175238	Transcript			proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	ENSG00000069206	g.chr8:24324411G>A	214			LOW								--	--	1																																		ADAM7_uc003xea.1_Silent_p.P163P	0,1	1			p.P163P	NM_003817	NP_003808			0,1	ADAM7_HUMAN	ADAM7	HGNC	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)			6	602	+		Prostate(55;0.0181)	UPI000013C5CC	163			Extracellular (Potential).		SNV	ADAM7,synonymous_variant,p.=,ENST00000175238,NM_003817.3;ADAM7,synonymous_variant,p.=,ENST00000380789,;ADAM7,synonymous_variant,p.=,ENST00000441335,;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523578,;	uc003xeb.2	c.489G>A	572/3367	2	2			c.489G>A						8	SNP	c.(487-489)CCG>CCA	44	44			skin(3)|ovary(1)|kidney(1)	5	Broad	a disintegrin and metalloproteinase domain 7			24324411		0.388	ENSG00000069206	250	g.chr8:24324411G>A	proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding							223.600012	KEEP	45	46	-1	89	90	45	46	-1	229.450945	89	90	0.334711	1	0	0	0	0	0	0	1	0	--	--		0	A			ADAM7_uc003xea.1_Silent_p.P163P	184	GBM-26-5135-TP	p.P163P	G	TGAGGGTGCCGTATGGTGCCA	NM_003817	NP_003808	24324411	Q9H2U9	ADAM7_HUMAN	0		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	6	602	+	A	A		Prostate(55;0.0181)	Silent	163			Extracellular (Potential).			
ADAM8	0	broad.mit.edu	GRCh37	10	135084467	135084467	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2624-01	TCGA-19-2624-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000445355.3:c.1482C>T	p.Asn494=	p.N494=	ENST00000445355	NM_001109.4	494	aaC/aaT	0	A:0.0002	A:0	1	A:0.0014		A	N	uc010qva.1	protein_coding	YES	CCDS31319.2			1482/2475									large_intestine(2)|central_nervous_system(1)	3	c.(1363-1365)AAC>AAT			PROSITE_profiles:PS50214,hmmpanther:PTHR11905:SF20,hmmpanther:PTHR11905,Pfam_domain:PF08516,SMART_domains:SM00608	SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8);		A:0	A:0	ENSP00000453302	A:0.002	14/23	0.000148		0.000955			0.000108			rs200740125,COSM3397009	14/23	common_variant		ENST00000445355	Transcript		A:0.0006	integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity	ENSG00000151651	g.chr10:135084467G>A	215			LOW								--	--	1																																		ADAM8_uc010quz.1_Silent_p.N494N|ADAM8_uc009ybi.2_Silent_p.N494N	0,1	1			p.N455N			A:0		0,1	ADAM8_HUMAN	ADAM8	HGNC	P78325	ADAM8_HUMAN		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)			13	1416	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	UPI0001AE6E16	455					SNV	ADAM8,synonymous_variant,p.=,ENST00000445355,NM_001109.4;ADAM8,synonymous_variant,p.=,ENST00000415217,NM_001164489.1;ADAM8,synonymous_variant,p.=,ENST00000485491,NM_001164490.1;ADAM8,downstream_gene_variant,,ENST00000486609,;ADAM8,downstream_gene_variant,,ENST00000559180,;ADAM8,non_coding_transcript_exon_variant,,ENST00000468964,;ADAM8,downstream_gene_variant,,ENST00000537099,;ADAM8,downstream_gene_variant,,ENST00000463298,;ADAM8,downstream_gene_variant,,ENST00000560135,;ADAM8,downstream_gene_variant,,ENST00000561175,;	uc010qva.1	c.1365C>T	1533/3279	2	2			c.1365C>T						10	SNP	c.(1363-1365)AAC>AAT	26	26			large_intestine(2)|central_nervous_system(1)	3	Broad	SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8);			135084467		0.667	ENSG00000151651	251	g.chr10:135084467G>A	integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity							47.197286	KEEP	10	7	-1	12	14	10	7	-1	47.545289	12	14	0.4	1	0	0	0	0	0	0	1	0	--	--		0	A			ADAM8_uc010quz.1_Silent_p.N494N|ADAM8_uc009ybi.2_Silent_p.N494N	164	GBM-19-2624-TP	p.N455N	G	AGGGCGTGCCGTTCTCCTGGA			135084467	P78325	ADAM8_HUMAN	0		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)	13	1416	-	A	A		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	Silent	455						
ADAM9	8754	broad.mit.edu	GRCh37	8	38873654	38873654	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0185-01	TCGA-06-0185-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000487273.2:c.351G>A	p.Arg117=	p.R117=	ENST00000487273	NM_003816.2	117	cgG/cgA	0			1			A	R	uc003xmr.2	protein_coding	YES	CCDS6112.1			351/2460									ovary(1)|central_nervous_system(1)	2	c.(349-351)CGG>CGA			hmmpanther:PTHR11905:SF32,hmmpanther:PTHR11905,Pfam_domain:PF01562	ADAM metallopeptidase domain 9 isoform 1				ENSP00000419446		22-May									COSM2150524	22-May	.		ENST00000487273	Transcript	1		activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	ENSG00000168615	g.chr8:38873654G>A	216			LOW								--	--	1																																		ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA	1	1			p.R117R	NM_003816	NP_003807			1	ADAM9_HUMAN	ADAM9	HGNC	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		B4DDM8_HUMAN		5	429	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	UPI0000048D87	117	Missing (in Ref. 2; no nucleotide entry).|R -> Q (in Ref. 4; BAA03499).		Extracellular (Potential).		SNV	ADAM9,synonymous_variant,p.=,ENST00000487273,NM_003816.2;ADAM9,downstream_gene_variant,,ENST00000481513,;ADAM9,downstream_gene_variant,,ENST00000466936,;SNORD38,downstream_gene_variant,,ENST00000384470,;ADAM9,synonymous_variant,p.=,ENST00000379917,;ADAM9,synonymous_variant,p.=,ENST00000481873,;ADAM9,synonymous_variant,p.=,ENST00000468065,;ADAM9,upstream_gene_variant,,ENST00000481058,;	uc003xmr.2	c.351G>A	429/3839	2	2			c.351G>A						8	SNP	c.(349-351)CGG>CGA	25	25			ovary(1)|central_nervous_system(1)	2	Broad	ADAM metallopeptidase domain 9 isoform 1			38873654		0.338	ENSG00000168615	252	g.chr8:38873654G>A	activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding							254.601711	KEEP	57	40	-1	95	68	57	40	-1	257.185685	95	68	0.383562	1	0	0	0	0	0	0	1	0	--	--		0	A			ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA	40	GBM-06-0185-TP	p.R117R	G	GTCATTATCGGGGCTATGTGG	NM_003816	NP_003807	38873654	Q13443	ADAM9_HUMAN	0	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		5	429	+	A	A		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	Silent	117	Missing (in Ref. 2; no nucleotide entry).|R -> Q (in Ref. 4; BAA03499).		Extracellular (Potential).			
ADAMDEC1	27299	broad.mit.edu	GRCh37	8	24254921	24254921	+	synonymous_variant	Silent	SNP	C	C	T	rs141288918		TCGA-06-0876-01	TCGA-06-0876-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256412.4:c.579C>T	p.Asp193=	p.D193=	ENST00000256412	NM_014479.3	193	gaC/gaT	0	T:0.0007		1			T	D	uc003xdz.2	protein_coding	YES	CCDS6044.1			579/1413									skin(2)	2	c.(577-579)GAC>GAT			hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF125	ADAM-like, decysin 1 isoform 1			T:0	ENSP00000256412		14-Jun	4.94E-05	0.000293				1.51E-05		0.000121	rs141288918,COSM2152071	14-Jun	.		ENST00000256412	Transcript			integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	ENSG00000134028	g.chr8:24254921C>T	16299			LOW								--	--	1																																		ADAMDEC1_uc010lub.2_Silent_p.D114D|ADAMDEC1_uc011lab.1_Silent_p.D114D	0,1	1			p.D193D	NM_014479	NP_055294			0,1	ADEC1_HUMAN	ADAMDEC1	HGNC	O15204	ADEC1_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	B7Z6U5_HUMAN		6	799	+		Prostate(55;0.0181)	UPI0000073385	193					SNV	ADAMDEC1,synonymous_variant,p.=,ENST00000538205,NM_001145271.1;ADAMDEC1,synonymous_variant,p.=,ENST00000256412,NM_014479.3;ADAMDEC1,synonymous_variant,p.=,ENST00000522298,NM_001145272.1;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523578,;ADAMDEC1,3_prime_UTR_variant,,ENST00000520193,;	uc003xdz.2	c.579C>T	799/2348	2	2			c.579C>T						8	SNP	c.(577-579)GAC>GAT	35	35			skin(2)	2	Broad	ADAM-like, decysin 1 isoform 1			24254921		0.443	ENSG00000134028	253	g.chr8:24254921C>T	integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	Ovarian(147;687 1849 3699 25981 31337)			Ovarian(147;687 1849 3699 25981 31337)			173.776997	KEEP	37	40	-1	119	103	37	40	-1	188.700988	119	103	0.252788	1	0	0	0	0	0	0	1	0	--	--		0	T			ADAMDEC1_uc010lub.2_Silent_p.D114D|ADAMDEC1_uc011lab.1_Silent_p.D114D	72	GBM-06-0876-TP	p.D193D	C	AGAGCACTGACGGGAAACAAG	NM_014479	NP_055294	24254921	O15204	ADEC1_HUMAN	0		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	6	799	+	T	T		Prostate(55;0.0181)	Silent	193						
ADAMDEC1	0	broad.mit.edu	GRCh37	8	24251644	24251644	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-4068-01	TCGA-19-4068-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256412.4:c.347C>G	p.Thr116Arg	p.T116R	ENST00000256412	NM_014479.3	116	aCg/aGg	0			1			G	T/R	uc003xdz.2	protein_coding	YES	CCDS6044.1			347/1413									skin(2)	2	c.(346-348)ACG>AGG			hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF125,Pfam_domain:PF01562	ADAM-like, decysin 1 isoform 1				ENSP00000256412		14-Apr									COSM2156497	14-Apr	.		ENST00000256412	Transcript			integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	ENSG00000134028	g.chr8:24251644C>G	16299			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=ADEC1_HUMAN&rb=42&re=173&var=T116R	NA	getma.org/?cm=var&var=hg19,8,24251644,C,G&fts=all	T116R	--	--	1																																		ADAMDEC1_uc010lub.2_Missense_Mutation_p.T37R|ADAMDEC1_uc011lab.1_Missense_Mutation_p.T37R	1	1		benign(0.083)	p.T116R	NM_014479	NP_055294		tolerated(0.17)	1	ADEC1_HUMAN	ADAMDEC1	HGNC	O15204	ADEC1_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	B7Z6U5_HUMAN		4	567	+		Prostate(55;0.0181)	UPI0000073385	116					SNV	ADAMDEC1,missense_variant,p.Thr37Arg,ENST00000538205,NM_001145271.1;ADAMDEC1,missense_variant,p.Thr116Arg,ENST00000256412,NM_014479.3;ADAMDEC1,missense_variant,p.Thr37Arg,ENST00000522298,NM_001145272.1;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523578,;ADAMDEC1,3_prime_UTR_variant,,ENST00000520193,;	uc003xdz.2	c.347C>G	567/2348	3	3			c.347C>G						8	SNP	c.(346-348)ACG>AGG	15	15			skin(2)	2	Broad	ADAM-like, decysin 1 isoform 1			24251644		0.463	ENSG00000134028	253	g.chr8:24251644C>G	integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	Ovarian(147;687 1849 3699 25981 31337)			Ovarian(147;687 1849 3699 25981 31337)			113.583108	KEEP	18	18	-1	22	34	18	18	-1	114.363678	22	34	0.395062	1	0	0	0	0	1	0	0	0	--	--		0	G			ADAMDEC1_uc010lub.2_Missense_Mutation_p.T37R|ADAMDEC1_uc011lab.1_Missense_Mutation_p.T37R	168	GBM-19-4068-TP	p.T116R	C	GAAATTACCACGAAACCTGAG	NM_014479	NP_055294	24251644	O15204	ADEC1_HUMAN	0		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	4	567	+	G	G		Prostate(55;0.0181)	Missense_Mutation	116						
ADAMDEC1	0	broad.mit.edu	GRCh37	8	24251623	24251623	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-26-5133-01	TCGA-26-5133-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256412.4:c.326C>A	p.Pro109His	p.P109H	ENST00000256412	NM_014479.3	109	cCc/cAc	0			1			A	P/H	uc003xdz.2	protein_coding	YES	CCDS6044.1			326/1413									skin(2)	2	c.(325-327)CCC>CAC			hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF125,Pfam_domain:PF01562	ADAM-like, decysin 1 isoform 1				ENSP00000256412		14-Apr									COSM3412931	14-Apr	.		ENST00000256412	Transcript			integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	ENSG00000134028	g.chr8:24251623C>A	16299			MODERATE		2.755	medium	getma.org/?cm=msa&ty=f&p=ADEC1_HUMAN&rb=42&re=173&var=P109H	NA	getma.org/?cm=var&var=hg19,8,24251623,C,A&fts=all	P109H	--	--	1																																		ADAMDEC1_uc010lub.2_Missense_Mutation_p.P30H|ADAMDEC1_uc011lab.1_Missense_Mutation_p.P30H	1	1		probably_damaging(0.984)	p.P109H	NM_014479	NP_055294		tolerated(0.06)	1	ADEC1_HUMAN	ADAMDEC1	HGNC	O15204	ADEC1_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	B7Z6U5_HUMAN		4	546	+		Prostate(55;0.0181)	UPI0000073385	109					SNV	ADAMDEC1,missense_variant,p.Pro30His,ENST00000538205,NM_001145271.1;ADAMDEC1,missense_variant,p.Pro109His,ENST00000256412,NM_014479.3;ADAMDEC1,missense_variant,p.Pro30His,ENST00000522298,NM_001145272.1;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523578,;ADAMDEC1,3_prime_UTR_variant,,ENST00000520193,;	uc003xdz.2	c.326C>A	546/2348	2	2			c.326C>A						8	SNP	c.(325-327)CCC>CAC	29	29			skin(2)	2	Broad	ADAM-like, decysin 1 isoform 1			24251623		0.463	ENSG00000134028	253	g.chr8:24251623C>A	integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	Ovarian(147;687 1849 3699 25981 31337)			Ovarian(147;687 1849 3699 25981 31337)			-5.428408	KEEP	5	2	0.285714286	39	62	5	2	0.285714286	12.636575	39	62	0.065217	1	0	0	0	0	1	0	0	0	--	--		0	A			ADAMDEC1_uc010lub.2_Missense_Mutation_p.P30H|ADAMDEC1_uc011lab.1_Missense_Mutation_p.P30H	182	GBM-26-5133-TP	p.P109H	C	TTGTACTCACCCAGAGGAGAG	NM_014479	NP_055294	24251623	O15204	ADEC1_HUMAN	0		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	4	546	+	A	A		Prostate(55;0.0181)	Missense_Mutation	109						
ADAMDEC1	27299		GRCh37	8	24256489	24256489	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000256412.4:c.865A>G	p.Asn289Asp	p.N289D	ENST00000256412	NM_014479.3	289	Aac/Gac	0																																																																																																																																																																																																																																												
ADAMTS1	0	broad.mit.edu	GRCh37	21	28212824	28212824	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-27-2527-01	TCGA-27-2527-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284984.3:c.1436G>T	p.Gly479Val	p.G479V	ENST00000284984	NM_006988.3	479	gGc/gTc	0			1			A	G/V	uc002ymf.2	protein_coding	YES	CCDS33524.1			1436/2904									lung(3)|large_intestine(2)|central_nervous_system(1)	6	c.(1435-1437)GGC>GTC			hmmpanther:PTHR13723:SF40,hmmpanther:PTHR13723,Gene3D:3.40.390.10,SMART_domains:SM00608	ADAM metallopeptidase with thrombospondin type 1				ENSP00000284984		9-May	8.24E-06					1.50E-05			rs777411299,COSM3405330	9-May	.		ENST00000284984	Transcript			integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	ENSG00000154734	g.chr21:28212824C>A	217			MODERATE		3.76	high	getma.org/?cm=msa&ty=f&p=ATS1_HUMAN&rb=476&re=559&var=G479V	getma.org/pdb.php?prot=ATS1_HUMAN&from=476&to=559&var=G479V	getma.org/?cm=var&var=hg19,21,28212824,C,A&fts=all	G479V	--	--	1																																			0,1	1		probably_damaging(1)	p.G479V	NM_006988	NP_008919		deleterious(0)	0,1	ATS1_HUMAN	ADAMTS1	HGNC	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	E5RI60_HUMAN		5	1891	-		Breast(209;0.000962)	UPI000013DDC6	479			Disintegrin.		SNV	ADAMTS1,missense_variant,p.Gly479Val,ENST00000284984,NM_006988.3;ADAMTS1,downstream_gene_variant,,ENST00000451462,;ADAMTS1,downstream_gene_variant,,ENST00000517777,;ADAMTS1,downstream_gene_variant,,ENST00000517452,;ADAMTS1,non_coding_transcript_exon_variant,,ENST00000464589,;ADAMTS1,upstream_gene_variant,,ENST00000492656,;	uc002ymf.2	c.1436G>T	1891/5191	2	2			c.1436G>T						21	SNP	c.(1435-1437)GGC>GTC	45	45			lung(3)|large_intestine(2)|central_nervous_system(1)	6	Broad	ADAM metallopeptidase with thrombospondin type 1			28212824		0.527	ENSG00000154734	254	g.chr21:28212824C>A	integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding							-3.508766	KEEP	3	3	0.5	48	57	3	3	0.5	12.918494	48	57	0.069767	1	0	0	0	0	1	0	0	0	--	--		0	A				204	GBM-27-2527-TP	p.G479V	C	GTACGAGGTGCCAGGGAGATC	NM_006988	NP_008919	28212824	Q9UHI8	ATS1_HUMAN	0		Lung(58;0.215)	5	1891	-	A	A		Breast(209;0.000962)	Missense_Mutation	479			Disintegrin.			
ADAMTS10	81794	broad.mit.edu	GRCh37	19	8661023	8661023	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0876-01	TCGA-06-0876-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000270328.4:c.1271T>C	p.Ile424Thr	p.I424T	ENST00000270328		424	aTt/aCt	0			1			G	I/T	uc002mkj.1	protein_coding		CCDS12206.1			1271/3312									pancreas(2)|skin(2)	4	c.(1270-1272)ATT>ACT			PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF26,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486	ADAM metallopeptidase with thrombospondin type 1				ENSP00000471851		26-Nov									COSM2152084	26-Nov	.		ENST00000597188	Transcript	1		proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000142303	g.chr19:8661023A>G	13201			MODERATE		1.11	low	getma.org/?cm=msa&ty=f&p=ATS10_HUMAN&rb=239&re=457&var=I424T	getma.org/pdb.php?prot=ATS10_HUMAN&from=239&to=457&var=I424T	getma.org/?cm=var&var=hg19,19,8661023,A,G&fts=all	I424T	--	--	1																																		ADAMTS10_uc002mkk.1_Missense_Mutation_p.I56T	1			possibly_damaging(0.828)	p.I424T	NM_030957	NP_112219		deleterious(0)	1	ATS10_HUMAN	ADAMTS10	HGNC	Q9H324	ATS10_HUMAN					11	1545	-			UPI000013D883	424			Peptidase M12B.		SNV	ADAMTS10,missense_variant,p.Ile424Thr,ENST00000270328,;ADAMTS10,missense_variant,p.Ile424Thr,ENST00000597188,NM_030957.2;ADAMTS10,upstream_gene_variant,,ENST00000595838,NM_001282352.1;ADAMTS10,downstream_gene_variant,,ENST00000596709,;ADAMTS10,downstream_gene_variant,,ENST00000596466,;ADAMTS10,3_prime_UTR_variant,,ENST00000596851,;ADAMTS10,3_prime_UTR_variant,,ENST00000593913,;ADAMTS10,non_coding_transcript_exon_variant,,ENST00000601163,;ADAMTS10,non_coding_transcript_exon_variant,,ENST00000601872,;ADAMTS10,upstream_gene_variant,,ENST00000603221,;ADAMTS10,upstream_gene_variant,,ENST00000593826,;ADAMTS10,upstream_gene_variant,,ENST00000596236,;	uc002mkj.1	c.1271T>C	1542/3749	3	3			c.1271T>C						19	SNP	c.(1270-1272)ATT>ACT	64	64			pancreas(2)|skin(2)	4	Broad	ADAM metallopeptidase with thrombospondin type 1			8661023		0.592	ENSG00000142303	255	g.chr19:8661023A>G	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding							261.198316	KEEP	60	34	-1	93	61	60	34	-1	265.086007	93	61	0.36	1	0	0	0	0	1	0	0	0	--	--		0	G			ADAMTS10_uc002mkk.1_Missense_Mutation_p.I56T	72	GBM-06-0876-TP	p.I424T	A	CTTCATGGTAATGTGGGCAGC	NM_030957	NP_112219	8661023	Q9H324	ATS10_HUMAN	0			11	1545	-	G	G			Missense_Mutation	424			Peptidase M12B.			
ADAMTS10	0	broad.mit.edu	GRCh37	19	8668748	8668748	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000597188.1:c.456C>T	p.Asp152=	p.D152=	ENST00000597188	NM_030957.2	152	gaC/gaT	0	A:0		1			A	D	uc002mkj.1	protein_coding		CCDS12206.1			456/3312									pancreas(2)|skin(2)	4	c.(454-456)GAC>GAT			hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF26,Pfam_domain:PF01562	ADAM metallopeptidase with thrombospondin type 1			A:0.0001	ENSP00000471851		26-May	3.29E-05					6.04E-05			rs371629978,COSM1471189	26-May	.		ENST00000597188	Transcript	1		proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000142303	g.chr19:8668748G>A	13201			LOW								--	--	1																																		ADAMTS10_uc002mkk.1_Translation_Start_Site	0,1				p.D152D	NM_030957	NP_112219			0,1	ATS10_HUMAN	ADAMTS10	HGNC	Q9H324	ATS10_HUMAN					5	730	-			UPI000013D883	152					SNV	ADAMTS10,synonymous_variant,p.=,ENST00000270328,;ADAMTS10,synonymous_variant,p.=,ENST00000597188,NM_030957.2;ADAMTS10,non_coding_transcript_exon_variant,,ENST00000596709,;ADAMTS10,non_coding_transcript_exon_variant,,ENST00000596466,;ADAMTS10,synonymous_variant,p.=,ENST00000596851,;ADAMTS10,synonymous_variant,p.=,ENST00000593913,;ADAMTS10,downstream_gene_variant,,ENST00000593534,;	uc002mkj.1	c.456C>T	727/3749	2	2			c.456C>T						19	SNP	c.(454-456)GAC>GAT	26	26			pancreas(2)|skin(2)	4	Broad	ADAM metallopeptidase with thrombospondin type 1			8668748		0.572	ENSG00000142303	255	g.chr19:8668748G>A	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding							51.001634	KEEP	9	16	-1	36	45	9	16	-1	56.361305	36	45	0.244444	1	0	0	0	0	0	0	1	0	--	--		0	A			ADAMTS10_uc002mkk.1_Translation_Start_Site	232	GBM-32-1982-TP	p.D152D	G	ACTCTTCCTCGTCTGCCACGA	NM_030957	NP_112219	8668748	Q9H324	ATS10_HUMAN	0			5	730	-	A	A			Silent	152						
ADAMTS10	0	broad.mit.edu	GRCh37	19	8661947	8661947	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs141147742		TCGA-76-6192-01	TCGA-76-6192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000597188.1:c.964G>A	p.Val322Met	p.V322M	ENST00000597188	NM_030957.2	322	Gtg/Atg	0			1			T	V/M	uc002mkj.1	protein_coding		CCDS12206.1			964/3312									pancreas(2)|skin(2)	4	c.(964-966)GTG>ATG			PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF26,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486	ADAM metallopeptidase with thrombospondin type 1				ENSP00000471851		26-Aug	8.24E-06					1.50E-05			rs782238413,COSM3404814	26-Aug	.		ENST00000597188	Transcript	1		proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000142303	g.chr19:8661947C>T	13201			MODERATE		0.6	neutral	getma.org/?cm=msa&ty=f&p=ATS10_HUMAN&rb=239&re=457&var=V322M	getma.org/pdb.php?prot=ATS10_HUMAN&from=239&to=457&var=V322M	getma.org/?cm=var&var=hg19,19,8661947,C,T&fts=all	V322M	--	--	1																																		ADAMTS10_uc002mkk.1_Translation_Start_Site	0,1			benign(0.041)	p.V322M	NM_030957	NP_112219		tolerated(0.08)	0,1	ATS10_HUMAN	ADAMTS10	HGNC	Q9H324	ATS10_HUMAN					8	1238	-			UPI000013D883	322			Peptidase M12B.		SNV	ADAMTS10,missense_variant,p.Val322Met,ENST00000270328,;ADAMTS10,missense_variant,p.Val322Met,ENST00000597188,NM_030957.2;ADAMTS10,upstream_gene_variant,,ENST00000595838,NM_001282352.1;ADAMTS10,downstream_gene_variant,,ENST00000596709,;ADAMTS10,downstream_gene_variant,,ENST00000596466,;ADAMTS10,3_prime_UTR_variant,,ENST00000596851,;ADAMTS10,non_coding_transcript_exon_variant,,ENST00000601163,;ADAMTS10,intron_variant,,ENST00000593913,;ADAMTS10,upstream_gene_variant,,ENST00000603221,;ADAMTS10,upstream_gene_variant,,ENST00000593826,;ADAMTS10,upstream_gene_variant,,ENST00000601872,;ADAMTS10,upstream_gene_variant,,ENST00000596236,;	uc002mkj.1	c.964G>A	1235/3749	2	2			c.964G>A						19	SNP	c.(964-966)GTG>ATG	33	33			pancreas(2)|skin(2)	4	Broad	ADAM metallopeptidase with thrombospondin type 1			8661947		0.572	ENSG00000142303	255	g.chr19:8661947C>T	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding							47.624333	KEEP	10	11	-1	46	35	10	11	-1	54.048644	46	35	0.225806	1	0	0	0	0	1	0	0	0	--	--		0	T			ADAMTS10_uc002mkk.1_Translation_Start_Site	275	GBM-76-6192-TP	p.V322M	C	CTGTGGTTCACGATGGATTTC	NM_030957	NP_112219	8661947	Q9H324	ATS10_HUMAN	0			8	1238	-	T	T			Missense_Mutation	322			Peptidase M12B.			
ADAMTS12	81792	broad.mit.edu	GRCh37	5	33683134	33683134	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0184-01	TCGA-06-0184-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504830.1:c.904G>A	p.Glu302Lys	p.E302K	ENST00000504830	NM_030955.2	302	Gaa/Aaa	0			1			T	E/K	uc003jia.1	protein_coding	YES	CCDS34140.1			904/4785									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9	c.(904-906)GAA>AAA			Low_complexity_(Seg):seg,PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF150,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486	ADAM metallopeptidase with thrombospondin type 1				ENSP00000422554		24-May	4.94E-05					7.51E-05	0.00111		rs780005218,COSM1181840	24-May	.		ENST00000504830	Transcript			proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000151388	g.chr5:33683134C>T	14605			MODERATE		1.855	low	getma.org/?cm=msa&ty=f&p=ATS12_HUMAN&rb=246&re=456&var=E302K	getma.org/pdb.php?prot=ATS12_HUMAN&from=246&to=456&var=E302K	getma.org/?cm=var&var=hg19,5,33683134,C,T&fts=all	E302K	--	--	1				HNSCC(64;0.19)																														ADAMTS12_uc010iuq.1_Missense_Mutation_p.E302K	0,1	1		probably_damaging(0.97)	p.E302K	NM_030955	NP_112217		deleterious(0)	0,1	ATS12_HUMAN	ADAMTS12	HGNC	P58397	ATS12_HUMAN					5	1067	-			UPI000013DC51	302			Poly-Glu.|Peptidase M12B.		SNV	ADAMTS12,missense_variant,p.Glu302Lys,ENST00000504830,NM_030955.2;ADAMTS12,missense_variant,p.Glu302Lys,ENST00000352040,;ADAMTS12,non_coding_transcript_exon_variant,,ENST00000504582,;	uc003jia.1	c.904G>A	1240/8774	1	1			c.904G>A						5	SNP	c.(904-906)GAA>AAA	16	16			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9	Broad	ADAM metallopeptidase with thrombospondin type 1			33683134		0.423	ENSG00000151388	256	g.chr5:33683134C>T	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding							75.854392	KEEP	19	15	-1	42	51	19	15	-1	81.0168	42	51	0.266667	1	0	0	0	0	1	0	0	0	--	--	HNSCC(64;0.19)	0	T			ADAMTS12_uc010iuq.1_Missense_Mutation_p.E302K	39	GBM-06-0184-TP	p.E302K	C	TCTTCTTCTTCGAGTAGAATG	NM_030955	NP_112217	33683134	P58397	ATS12_HUMAN	0			5	1067	-	T	T			Missense_Mutation	302			Poly-Glu.|Peptidase M12B.			
ADAMTS12	81792	broad.mit.edu	GRCh37	5	33576987	33576987	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0190-01	TCGA-06-0190-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504830.1:c.3144C>G	p.Ile1048Met	p.I1048M	ENST00000504830	NM_030955.2	1048	atC/atG	0			1			C	I/M	uc003jia.1	protein_coding	YES	CCDS34140.1			3144/4785									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9	c.(3142-3144)ATC>ATG			Low_complexity_(Seg):seg,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF150	ADAM metallopeptidase with thrombospondin type 1				ENSP00000422554		19/24									COSM3410239	19/24	.		ENST00000504830	Transcript			proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000151388	g.chr5:33576987G>C	14605			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=ATS12_HUMAN&rb=1001&re=1200&var=I1048M	NA	getma.org/?cm=var&var=hg19,5,33576987,G,C&fts=all	I1048M	--	--	1				HNSCC(64;0.19)																														ADAMTS12_uc010iuq.1_Missense_Mutation_p.I963M	1	1		benign(0.013)	p.I1048M	NM_030955	NP_112217		tolerated(0.26)	1	ATS12_HUMAN	ADAMTS12	HGNC	P58397	ATS12_HUMAN					19	3307	-			UPI000013DC51	1048			Spacer 2.		SNV	ADAMTS12,missense_variant,p.Ile1048Met,ENST00000504830,NM_030955.2;ADAMTS12,missense_variant,p.Ile963Met,ENST00000352040,;ADAMTS12,downstream_gene_variant,,ENST00000504582,;	uc003jia.1	c.3144C>G	3480/8774	3	3			c.3144C>G						5	SNP	c.(3142-3144)ATC>ATG	57	57			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9	Broad	ADAM metallopeptidase with thrombospondin type 1			33576987		0.562	ENSG00000151388	256	g.chr5:33576987G>C	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding							-24.493422	KEEP	2	1	-1	64	76	2	1	-1	7.565479	64	76	0.023622	1	0	0	0	0	1	0	0	0	--	--	HNSCC(64;0.19)	0	C			ADAMTS12_uc010iuq.1_Missense_Mutation_p.I963M	43	GBM-06-0190-TP	p.I1048M	G	TAGGGCTGCTGATTGCTGGAG	NM_030955	NP_112217	33576987	P58397	ATS12_HUMAN	0			19	3307	-	C	C			Missense_Mutation	1048			Spacer 2.			
ADAMTS12	81792	broad.mit.edu	GRCh37	5	33615934	33615934	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0743-01	TCGA-06-0743-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504830.1:c.2387A>G	p.Gln796Arg	p.Q796R	ENST00000504830	NM_030955.2	796	cAg/cGg	0			1			C	Q/R	uc003jia.1	protein_coding	YES	CCDS34140.1			2387/4785									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9	c.(2386-2388)CAG>CGG			hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF150,Pfam_domain:PF05986	ADAM metallopeptidase with thrombospondin type 1				ENSP00000422554		15/24									COSM3410240	15/24	.		ENST00000504830	Transcript			proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000151388	g.chr5:33615934T>C	14605			MODERATE		3.125	medium	getma.org/?cm=msa&ty=f&p=ATS12_HUMAN&rb=702&re=813&var=Q796R	NA	getma.org/?cm=var&var=hg19,5,33615934,T,C&fts=all	Q796R	--	--	1				HNSCC(64;0.19)																														ADAMTS12_uc010iuq.1_Missense_Mutation_p.Q711R	1	1		probably_damaging(0.967)	p.Q796R	NM_030955	NP_112217		deleterious(0)	1	ATS12_HUMAN	ADAMTS12	HGNC	P58397	ATS12_HUMAN					15	2550	-			UPI000013DC51	796			Spacer 1.		SNV	ADAMTS12,missense_variant,p.Gln796Arg,ENST00000504830,NM_030955.2;ADAMTS12,missense_variant,p.Gln711Arg,ENST00000352040,;ADAMTS12,splice_region_variant,,ENST00000504582,;ADAMTS12,splice_region_variant,,ENST00000506952,;	uc003jia.1	c.2387A>G	2723/8774	3	3			c.2387A>G						5	SNP	c.(2386-2388)CAG>CGG	12	12			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9	Broad	ADAM metallopeptidase with thrombospondin type 1			33615934		0.473	ENSG00000151388	256	g.chr5:33615934T>C	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding							201.446673	KEEP	33	36	-1	49	50	33	36	-1	202.243327	49	50	0.42069	1	0	0	0	0	1	0	0	0	--	--	HNSCC(64;0.19)	0	C			ADAMTS12_uc010iuq.1_Missense_Mutation_p.Q711R	65	GBM-06-0743-TP	p.Q796R	T	CTGCATTACCTGGATCCACAC	NM_030955	NP_112217	33615934	P58397	ATS12_HUMAN	0			15	2550	-	C	C			Missense_Mutation	796			Spacer 1.			
ADAMTS12	81792	broad.mit.edu	GRCh37	5	33576992	33576992	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01	TCGA-06-0744-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504830.1:c.3139G>A	p.Ala1047Thr	p.A1047T	ENST00000504830	NM_030955.2	1047	Gca/Aca	0			1			T	A/T	uc003jia.1	protein_coding	YES	CCDS34140.1			3139/4785									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9	c.(3139-3141)GCA>ACA			Low_complexity_(Seg):seg,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF150	ADAM metallopeptidase with thrombospondin type 1				ENSP00000422554		19/24									COSM2151597	19/24	.		ENST00000504830	Transcript			proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000151388	g.chr5:33576992C>T	14605			MODERATE		-0.11	neutral	getma.org/?cm=msa&ty=f&p=ATS12_HUMAN&rb=1001&re=1200&var=A1047T	NA	getma.org/?cm=var&var=hg19,5,33576992,C,T&fts=all	A1047T	--	--	1				HNSCC(64;0.19)																														ADAMTS12_uc010iuq.1_Missense_Mutation_p.A962T	1	1		benign(0.002)	p.A1047T	NM_030955	NP_112217		tolerated(0.69)	1	ATS12_HUMAN	ADAMTS12	HGNC	P58397	ATS12_HUMAN					19	3302	-			UPI000013DC51	1047			Spacer 2.		SNV	ADAMTS12,missense_variant,p.Ala1047Thr,ENST00000504830,NM_030955.2;ADAMTS12,missense_variant,p.Ala962Thr,ENST00000352040,;ADAMTS12,downstream_gene_variant,,ENST00000504582,;	uc003jia.1	c.3139G>A	3475/8774	1	1			c.3139G>A						5	SNP	c.(3139-3141)GCA>ACA	9	9			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9	Broad	ADAM metallopeptidase with thrombospondin type 1			33576992		0.552	ENSG00000151388	256	g.chr5:33576992C>T	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding							155.35234	KEEP	44	15	-1	45	26	44	15	-1	155.619014	45	26	0.449153	1	0	0	0	0	1	0	0	0	--	--	HNSCC(64;0.19)	0	T			ADAMTS12_uc010iuq.1_Missense_Mutation_p.A962T	66	GBM-06-0744-TP	p.A1047T	C	CTGCTGATTGCTGGAGTGCTT	NM_030955	NP_112217	33576992	P58397	ATS12_HUMAN	0			19	3302	-	T	T			Missense_Mutation	1047			Spacer 2.			
ADAMTS12	81792	broad.mit.edu	GRCh37	5	33684033	33684033	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0744-01	TCGA-06-0744-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504830.1:c.762C>T	p.Ala254=	p.A254=	ENST00000504830	NM_030955.2	254	gcC/gcT	0			1			A	A	uc003jia.1	protein_coding	YES	CCDS34140.1			762/4785									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9	c.(760-762)GCC>GCT			PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF150,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486	ADAM metallopeptidase with thrombospondin type 1				ENSP00000422554		24-Apr	2.47E-05			0.000231				6.26E-05	rs775100937,COSM2151602	24-Apr	.		ENST00000504830	Transcript			proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000151388	g.chr5:33684033G>A	14605			LOW								--	--	1				HNSCC(64;0.19)																														ADAMTS12_uc010iuq.1_Silent_p.A254A	0,1	1			p.A254A	NM_030955	NP_112217			0,1	ATS12_HUMAN	ADAMTS12	HGNC	P58397	ATS12_HUMAN					4	925	-			UPI000013DC51	254			Peptidase M12B.		SNV	ADAMTS12,synonymous_variant,p.=,ENST00000504830,NM_030955.2;ADAMTS12,synonymous_variant,p.=,ENST00000352040,;ADAMTS12,non_coding_transcript_exon_variant,,ENST00000504582,;	uc003jia.1	c.762C>T	1098/8774	1	1			c.762C>T						5	SNP	c.(760-762)GCC>GCT	61	61			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9	Broad	ADAM metallopeptidase with thrombospondin type 1			33684033		0.547	ENSG00000151388	256	g.chr5:33684033G>A	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding							154.164157	KEEP	32	29	-1	47	32	32	29	-1	154.771116	47	32	0.422414	1	0	0	0	0	0	0	1	0	--	--	HNSCC(64;0.19)	0	A			ADAMTS12_uc010iuq.1_Silent_p.A254A	66	GBM-06-0744-TP	p.A254A	G	TCTTTGTGTCGGCCACCACCA	NM_030955	NP_112217	33684033	P58397	ATS12_HUMAN	0			4	925	-	A	A			Silent	254			Peptidase M12B.			
ADAMTS12	81792	broad.mit.edu	GRCh37	5	33596125	33596125	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0749-01	TCGA-06-0749-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504830.1:c.2568C>T	p.Arg856=	p.R856=	ENST00000504830	NM_030955.2	856	cgC/cgT	0		A:0	1	A:0		A	R	uc003jia.1	protein_coding	YES	CCDS34140.1			2568/4785									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9	c.(2566-2568)CGC>CGT			PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF150,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895	ADAM metallopeptidase with thrombospondin type 1		A:0		ENSP00000422554	A:0	17/24	0.000165					1.50E-05		0.00115	rs562347214,COSM2151916	17/24	common_variant		ENST00000504830	Transcript		A:0.0002	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000151388	g.chr5:33596125G>A	14605			LOW								--	--	1				HNSCC(64;0.19)																														ADAMTS12_uc010iuq.1_Silent_p.R771R	0,1	1			p.R856R	NM_030955	NP_112217	A:0.001		0,1	ATS12_HUMAN	ADAMTS12	HGNC	P58397	ATS12_HUMAN					17	2731	-			UPI000013DC51	856			TSP type-1 2.		SNV	ADAMTS12,synonymous_variant,p.=,ENST00000504830,NM_030955.2;ADAMTS12,synonymous_variant,p.=,ENST00000352040,;ADAMTS12,non_coding_transcript_exon_variant,,ENST00000504582,;	uc003jia.1	c.2568C>T	2904/8774	1	1			c.2568C>T						5	SNP	c.(2566-2568)CGC>CGT	50	50			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9	Broad	ADAM metallopeptidase with thrombospondin type 1			33596125		0.512	ENSG00000151388	256	g.chr5:33596125G>A	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding							133.690025	KEEP	31	21	-1	80	48	31	21	-1	139.838749	80	48	0.297619	1	0	0	0	0	0	0	1	0	--	--	HNSCC(64;0.19)	0	A			ADAMTS12_uc010iuq.1_Silent_p.R771R	69	GBM-06-0749-TP	p.R856R	G	TCACCATCCCGCGGCCCTTCT	NM_030955	NP_112217	33596125	P58397	ATS12_HUMAN	0			17	2731	-	A	A			Silent	856			TSP type-1 2.			
ADAMTS12	81792	broad.mit.edu	GRCh37	5	33549384	33549384	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5413-01	TCGA-06-5413-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504830.1:c.4230C>T	p.Gly1410=	p.G1410=	ENST00000504830	NM_030955.2	1410	ggC/ggT	0			1			A	G	uc003jia.1	protein_coding	YES	CCDS34140.1			4230/4785									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9	c.(4228-4230)GGC>GGT			hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF150,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895	ADAM metallopeptidase with thrombospondin type 1				ENSP00000422554		21/24									COSM2153180	21/24	.		ENST00000504830	Transcript			proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000151388	g.chr5:33549384G>A	14605			LOW								--	--	1				HNSCC(64;0.19)																														ADAMTS12_uc010iuq.1_Silent_p.G1325G	1	1			p.G1410G	NM_030955	NP_112217			1	ATS12_HUMAN	ADAMTS12	HGNC	P58397	ATS12_HUMAN					21	4393	-			UPI000013DC51	1410			TSP type-1 6.		SNV	ADAMTS12,synonymous_variant,p.=,ENST00000504830,NM_030955.2;ADAMTS12,synonymous_variant,p.=,ENST00000352040,;	uc003jia.1	c.4230C>T	4566/8774	1	1			c.4230C>T						5	SNP	c.(4228-4230)GGC>GGT	56	56			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9	Broad	ADAM metallopeptidase with thrombospondin type 1			33549384		0.612	ENSG00000151388	256	g.chr5:33549384G>A	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding							45.083686	KEEP	12	11	-1	30	40	12	11	-1	50.121459	30	40	0.2375	1	0	0	0	0	0	0	1	0	--	--	HNSCC(64;0.19)	0	A			ADAMTS12_uc010iuq.1_Silent_p.G1325G	96	GBM-06-5413-TP	p.G1410G	G	GGGGAGGAATGCCGGCCAGGA	NM_030955	NP_112217	33549384	P58397	ATS12_HUMAN	0			21	4393	-	A	A			Silent	1410			TSP type-1 6.			
ADAMTS12	0	broad.mit.edu	GRCh37	5	33576573	33576573	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-5132-01	TCGA-26-5132-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504830.1:c.3558C>T	p.Asp1186=	p.D1186=	ENST00000504830	NM_030955.2	1186	gaC/gaT	0		A:0	1	A:0		A	D	uc003jia.1	protein_coding	YES	CCDS34140.1			3558/4785									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9	c.(3556-3558)GAC>GAT			hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF150	ADAM metallopeptidase with thrombospondin type 1		A:0.001		ENSP00000422554	A:0	19/24	0.000173			0.000694				0.00103	rs181608167,COSM2156909	19/24	common_variant		ENST00000504830	Transcript		A:0.0002	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000151388	g.chr5:33576573G>A	14605			LOW								--	--	1				HNSCC(64;0.19)																														ADAMTS12_uc010iuq.1_Silent_p.D1101D	0,1	1			p.D1186D	NM_030955	NP_112217	A:0		0,1	ATS12_HUMAN	ADAMTS12	HGNC	P58397	ATS12_HUMAN					19	3721	-			UPI000013DC51	1186			Spacer 2.		SNV	ADAMTS12,synonymous_variant,p.=,ENST00000504830,NM_030955.2;ADAMTS12,synonymous_variant,p.=,ENST00000352040,;ADAMTS12,downstream_gene_variant,,ENST00000504582,;	uc003jia.1	c.3558C>T	3894/8774	2	2			c.3558C>T						5	SNP	c.(3556-3558)GAC>GAT	34	34			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9	Broad	ADAM metallopeptidase with thrombospondin type 1			33576573		0.498	ENSG00000151388	256	g.chr5:33576573G>A	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding							345.337034	KEEP	59	63	-1	87	105	59	63	-1	348.197885	87	105	0.394558	1	0	0	0	0	0	0	1	0	--	--	HNSCC(64;0.19)	0	A			ADAMTS12_uc010iuq.1_Silent_p.D1101D	181	GBM-26-5132-TP	p.D1186D	G	CCACTGGAGCGTCATTTCCAG	NM_030955	NP_112217	33576573	P58397	ATS12_HUMAN	0			19	3721	-	A	A			Silent	1186			Spacer 2.			
ADAMTS12	0	broad.mit.edu	GRCh37	5	33751608	33751608	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01	TCGA-32-2495-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504830.1:c.535G>A	p.Val179Met	p.V179M	ENST00000504830	NM_030955.2	179	Gtg/Atg	0		T:0	1	T:0		T	V/M	uc003jia.1	protein_coding	YES	CCDS34140.1			535/4785									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9	c.(535-537)GTG>ATG			hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF150,Pfam_domain:PF01562	ADAM metallopeptidase with thrombospondin type 1		T:0.001		ENSP00000422554	T:0	24-Mar	1.65E-05			0.000116			0.0011		rs374678857,COSM374900,COSM374901	24-Mar	.		ENST00000504830	Transcript		T:0.0002	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000151388	g.chr5:33751608C>T	14605			MODERATE		1.625	low	getma.org/?cm=msa&ty=f&p=ATS12_HUMAN&rb=52&re=195&var=V179M	NA	getma.org/?cm=var&var=hg19,5,33751608,C,T&fts=all	V179M	--	--	1				HNSCC(64;0.19)																														ADAMTS12_uc010iuq.1_Missense_Mutation_p.V179M|ADAMTS12_uc003jib.1_Missense_Mutation_p.V179M	0,1,1	1		possibly_damaging(0.899)	p.V179M	NM_030955	NP_112217	T:0	deleterious(0.01)	0,1,1	ATS12_HUMAN	ADAMTS12	HGNC	P58397	ATS12_HUMAN					3	698	-			UPI000013DC51	179					SNV	ADAMTS12,missense_variant,p.Val179Met,ENST00000504830,NM_030955.2;ADAMTS12,missense_variant,p.Val179Met,ENST00000352040,;ADAMTS12,missense_variant,p.Val179Met,ENST00000515401,;ADAMTS12,non_coding_transcript_exon_variant,,ENST00000504582,;	uc003jia.1	c.535G>A	871/8774	1	1			c.535G>A						5	SNP	c.(535-537)GTG>ATG	13	13			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9	Broad	ADAM metallopeptidase with thrombospondin type 1			33751608		0.423	ENSG00000151388	256	g.chr5:33751608C>T	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding							448.295276	KEEP	74	86	-1	72	88	74	86	-1	448.596306	72	88	0.535849	1	0	0	0	0	1	0	0	0	--	--	HNSCC(64;0.19)	0	T			ADAMTS12_uc010iuq.1_Missense_Mutation_p.V179M|ADAMTS12_uc003jib.1_Missense_Mutation_p.V179M	237	GBM-32-2495-TP	p.V179M	C	TGCTTCTTCACGGGTTCAATG	NM_030955	NP_112217	33751608	P58397	ATS12_HUMAN	0			3	698	-	T	T			Missense_Mutation	179						
ADAMTS12	81792		GRCh37	5	33881270	33881270	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000504830.1:c.443A>G	p.Gln148Arg	p.Q148R	ENST00000504830	NM_030955.2	148	cAg/cGg	0																																																																																																																																																																																																																																												
ADAMTS13	0	broad.mit.edu	GRCh37	9	136302931	136302931	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01	TCGA-12-3650-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371929.3:c.1498G>A	p.Asp500Asn	p.D500N	ENST00000371929	NM_139025.4	500	Gac/Aac	0			1			A	D/N	uc004cdv.3	protein_coding	YES	CCDS6970.1			1498/4284									central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6	c.(1498-1500)GAC>AAC			hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF161	ADAM metallopeptidase with thrombospondin type 1				ENSP00000360997		13/29									COSM3413422	13/29	.		ENST00000371929	Transcript	1		cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	ENSG00000160323	g.chr9:136302931G>A	1366			MODERATE		1.805	low	getma.org/?cm=msa&ty=f&p=ATS13_HUMAN&rb=439&re=638&var=D500N	getma.org/pdb.php?prot=ATS13_HUMAN&from=439&to=638&var=D500N	getma.org/?cm=var&var=hg19,9,136302931,G,A&fts=all	D500N	--	--	1																																		ADAMTS13_uc004cdp.3_Intron|ADAMTS13_uc004cdt.1_Missense_Mutation_p.D500N|ADAMTS13_uc004cdu.1_Missense_Mutation_p.D469N|ADAMTS13_uc004cdw.3_Missense_Mutation_p.D500N|ADAMTS13_uc004cdx.3_Missense_Mutation_p.D469N|ADAMTS13_uc004cdy.1_RNA|ADAMTS13_uc004cdz.3_Missense_Mutation_p.D170N|ADAMTS13_uc004cds.1_Intron|ADAMTS13_uc004cdr.1_RNA	1	1		benign(0.314)	p.D500N	NM_139025	NP_620594		deleterious(0.01)	1	ATS13_HUMAN	ADAMTS13	HGNC	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	Q6QNA4_HUMAN,B3KWF7_HUMAN		13	1942	+			UPI0000000DAD	500			Cell attachment site (Potential).		SNV	ADAMTS13,missense_variant,p.Asp500Asn,ENST00000371929,NM_139025.4,NM_139027.4;ADAMTS13,missense_variant,p.Asp500Asn,ENST00000355699,;ADAMTS13,missense_variant,p.Asp469Asn,ENST00000356589,NM_139026.4;ADAMTS13,missense_variant,p.Asp172Asn,ENST00000536611,;ADAMTS13,3_prime_UTR_variant,,ENST00000371916,;ADAMTS13,intron_variant,,ENST00000485925,;ADAMTS13,3_prime_UTR_variant,,ENST00000495234,;ADAMTS13,3_prime_UTR_variant,,ENST00000474918,;	uc004cdv.3	c.1498G>A	1942/4934	1	1			c.1498G>A						9	SNP	c.(1498-1500)GAC>AAC	52	52			central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6	Broad	ADAM metallopeptidase with thrombospondin type 1			136302931		0.627	ENSG00000160323	257	g.chr9:136302931G>A	cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding							166.476505	KEEP	35	23	-1	43	34	35	23	-1	167.117312	43	34	0.422764	1	0	0	0	0	1	0	0	0	--	--		0	A			ADAMTS13_uc004cdp.3_Intron|ADAMTS13_uc004cdt.1_Missense_Mutation_p.D500N|ADAMTS13_uc004cdu.1_Missense_Mutation_p.D469N|ADAMTS13_uc004cdw.3_Missense_Mutation_p.D500N|ADAMTS13_uc004cdx.3_Missense_Mutation_p.D469N|ADAMTS13_uc004cdy.1_RNA|ADAMTS13_uc004cdz.3_Missense_Mutation_p.D170N|ADAMTS13_uc004cds.1_Intron|ADAMTS13_uc004cdr.1_RNA	126	GBM-12-3650-TP	p.D500N	G	GAAGCGTGGAGACAGCTTCCT	NM_139025	NP_620594	136302931	Q76LX8	ATS13_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	13	1942	+	A	A			Missense_Mutation	500			Cell attachment site (Potential).			
ADAMTS14	140766	broad.mit.edu	GRCh37	10	72495039	72495039	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2559-01	TCGA-06-2559-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373208.1:c.1476C>T	p.Gly492=	p.G492=	ENST00000373208	NM_139155.2	492	ggC/ggT	0			1			T	G	uc001jrh.2	protein_coding		CCDS7306.1			1467/3672									ovary(5)|upper_aerodigestive_tract(1)	6	c.(1465-1467)GGC>GGT			hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF24,SMART_domains:SM00608	ADAM metallopeptidase with thrombospondin type 1				ENSP00000362303		22-Sep									COSM2152669	22-Sep	.		ENST00000373207	Transcript			collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000138316	g.chr10:72495039C>T	14899			LOW								--	--	1																																		ADAMTS14_uc001jrg.2_Silent_p.G492G|ADAMTS14_uc001jri.1_Silent_p.G12G	1				p.G489G	NM_080722	NP_542453			1	ATS14_HUMAN	ADAMTS14	HGNC	Q8WXS8	ATS14_HUMAN					9	1467	+			UPI0000049F22	489			Disintegrin.		SNV	ADAMTS14,synonymous_variant,p.=,ENST00000373208,NM_139155.2;ADAMTS14,synonymous_variant,p.=,ENST00000373207,NM_080722.3;	uc001jrh.2	c.1467C>T	1467/5260	1	1			c.1467C>T						10	SNP	c.(1465-1467)GGC>GGT	13	13			ovary(5)|upper_aerodigestive_tract(1)	6	Broad	ADAM metallopeptidase with thrombospondin type 1			72495039		0.592	ENSG00000138316	258	g.chr10:72495039C>T	collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding							82.926377	KEEP	14	15	-1	4	4	14	15	-1	85.464523	4	4	0.8	1	0	0	0	0	0	0	1	0	--	--		0	T			ADAMTS14_uc001jrg.2_Silent_p.G492G|ADAMTS14_uc001jri.1_Silent_p.G12G	83	GBM-06-2559-TP	p.G489G	C	TTGGCAGTGGCTACCAGACCT	NM_080722	NP_542453	72495039	Q8WXS8	ATS14_HUMAN	0			9	1467	+	T	T			Silent	489			Disintegrin.			
ADAMTS15	170689	broad.mit.edu	GRCh37	11	130343095	130343095	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299164.2:c.2232G>A	p.Ser744=	p.S744=	ENST00000299164	NM_139055.2	744	tcG/tcA	0		A:0	1	A:0		A	S	uc010scd.1	protein_coding	YES	CCDS8488.1			2232/2853									large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5	c.(2230-2232)TCG>TCA			Pfam_domain:PF05986,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF39	a disintegrin-like and metalloprotease		A:0.001		ENSP00000299164	A:0	8-Aug	8.24E-05			0.000695		3.01E-05		0.000121	rs544957547,COSM2089520	8-Aug	common_variant		ENST00000299164	Transcript		A:0.0002	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000166106	g.chr11:130343095G>A	16305			LOW								--	--	1																																			0,1	1			p.S744S	NM_139055	NP_620686	A:0		0,1	ATS15_HUMAN	ADAMTS15	HGNC	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)			8	2232	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	UPI000004F277	744			Spacer.		SNV	ADAMTS15,synonymous_variant,p.=,ENST00000299164,NM_139055.2;	uc010scd.1	c.2232G>A	2232/5669	2	2			c.2232G>A						11	SNP	c.(2230-2232)TCG>TCA	45	45			large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5	Broad	a disintegrin-like and metalloprotease			130343095		0.642	ENSG00000166106	259	g.chr11:130343095G>A	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding							60.314612	KEEP	15	11	-1	45	64	15	11	-1	69.964811	45	64	0.209677	1	0	0	0	0	0	0	1	0	--	--		0	A				102	GBM-06-5858-TP	p.S744S	G	TCGTGGTGTCGGCGGTGGAGC	NM_139055	NP_620686	130343095	Q8TE58	ATS15_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	8	2232	+	A	A	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	Silent	744			Spacer.			
ADAMTS15	0	broad.mit.edu	GRCh37	11	130343595	130343595	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1837-01	TCGA-27-1837-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299164.2:c.2732G>A	p.Arg911Gln	p.R911Q	ENST00000299164	NM_139055.2	911	cGg/cAg	0			1			A	R/Q	uc010scd.1	protein_coding	YES	CCDS8488.1			2732/2853									large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5	c.(2731-2733)CGG>CAG			Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF39,SMART_domains:SM00209,Superfamily_domains:SSF82895	a disintegrin-like and metalloprotease				ENSP00000299164		8-Aug	8.25E-06					1.60E-05			rs748790827,COSM3397568	8-Aug	.		ENST00000299164	Transcript			proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000166106	g.chr11:130343595G>A	16305			MODERATE		1.525	low	getma.org/?cm=msa&ty=f&p=ATS15_HUMAN&rb=898&re=950&var=R911Q	NA	getma.org/?cm=var&var=hg19,11,130343595,G,A&fts=all	R911Q	--	--	1																																			0,1	1		benign(0.068)	p.R911Q	NM_139055	NP_620686		tolerated(0.23)	0,1	ATS15_HUMAN	ADAMTS15	HGNC	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)			8	2732	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	UPI000004F277	911			TSP type-1 3.		SNV	ADAMTS15,missense_variant,p.Arg911Gln,ENST00000299164,NM_139055.2;	uc010scd.1	c.2732G>A	2732/5669	2	2			c.2732G>A						11	SNP	c.(2731-2733)CGG>CAG	48	48			large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5	Broad	a disintegrin-like and metalloprotease			130343595		0.682	ENSG00000166106	259	g.chr11:130343595G>A	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding							49.645151	KEEP	10	10	-1	10	17	10	10	-1	49.651092	10	17	0.486486	1	0	0	0	0	1	0	0	0	--	--		0	A				196	GBM-27-1837-TP	p.R911Q	G	AGCTGCGGCCGGGGATTTCAG	NM_139055	NP_620686	130343595	Q8TE58	ATS15_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	8	2732	+	A	A	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	Missense_Mutation	911			TSP type-1 3.			
ADAMTS16	170690	broad.mit.edu	GRCh37	5	5262831	5262831	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0122-01	TCGA-06-0122-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274181.7:c.2724C>A	p.Phe908Leu	p.F908L	ENST00000274181	NM_139056.2	908	ttC/ttA	0			1			A	F/L	uc003jdl.2	protein_coding	YES	CCDS43299.1			2724/3675									ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8	c.(2722-2724)TTC>TTA			hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF140,SMART_domains:SM00209	ADAM metallopeptidase with thrombospondin type 1				ENSP00000274181		18/23									COSM2149178,COSM2149177	18/23	.		ENST00000274181	Transcript			proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000145536	g.chr5:5262831C>A	17108			MODERATE		1.675	low	getma.org/?cm=msa&ty=f&p=ATS16_HUMAN&rb=874&re=922&var=F908L	NA	getma.org/?cm=var&var=hg19,5,5262831,C,A&fts=all	F908L	--	--	1																																		ADAMTS16_uc003jdk.1_Missense_Mutation_p.F908L	1,1	1		benign(0.008)	p.F908L	NM_139056	NP_620687		tolerated(0.24)	1,1	ATS16_HUMAN	ADAMTS16	HGNC	Q8TE57	ATS16_HUMAN			B2G3Q1_HUMAN		18	2862	+			UPI00004572CA	908			TSP type-1 2.		SNV	ADAMTS16,missense_variant,p.Phe908Leu,ENST00000274181,NM_139056.2;ADAMTS16,non_coding_transcript_exon_variant,,ENST00000433402,;	uc003jdl.2	c.2724C>A	2862/4979	2	2			c.2724C>A						5	SNP	c.(2722-2724)TTC>TTA	30	30			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8	Broad	ADAM metallopeptidase with thrombospondin type 1			5262831		0.498	ENSG00000145536	260	g.chr5:5262831C>A	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding							107.759375	KEEP	14	26	0.65	29	20	14	26	0.65	108.12484	29	20	0.430233	1	0	0	0	0	1	0	0	0	--	--		0	A			ADAMTS16_uc003jdk.1_Missense_Mutation_p.F908L	10	GBM-06-0122-TP	p.F908L	C	ATATGTCCTTCTGCAATCCCA	NM_139056	NP_620687	5262831	Q8TE57	ATS16_HUMAN	0			18	2862	+	A	A			Missense_Mutation	908			TSP type-1 2.			
ADAMTS16	170690	broad.mit.edu	GRCh37	5	5232628	5232628	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0195-01	TCGA-06-0195-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274181.7:c.1849A>G	p.Lys617Glu	p.K617E	ENST00000274181	NM_139056.2	617	Aag/Gag	0			1			G	K/E	uc003jdl.2	protein_coding	YES	CCDS43299.1			1849/3675									ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8	c.(1849-1851)AAG>GAG			Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF140,SMART_domains:SM00209,Superfamily_domains:SSF82895	ADAM metallopeptidase with thrombospondin type 1				ENSP00000274181		23-Dec	8.24E-06							6.06E-05	rs762710163,COSM3410304,COSM3410303	23-Dec	.		ENST00000274181	Transcript			proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000145536	g.chr5:5232628A>G	17108			MODERATE		0.535	neutral	getma.org/?cm=msa&ty=f&p=ATS16_HUMAN&rb=590&re=640&var=K617E	getma.org/pdb.php?prot=ATS16_HUMAN&from=590&to=640&var=K617E	getma.org/?cm=var&var=hg19,5,5232628,A,G&fts=all	K617E	--	--	1																																		ADAMTS16_uc003jdk.1_Missense_Mutation_p.K617E|ADAMTS16_uc010itk.1_5'Flank	0,1,1	1		benign(0.068)	p.K617E	NM_139056	NP_620687		tolerated(0.08)	0,1,1	ATS16_HUMAN	ADAMTS16	HGNC	Q8TE57	ATS16_HUMAN			B2G3Q1_HUMAN		12	1987	+			UPI00004572CA	617			TSP type-1 1.		SNV	ADAMTS16,missense_variant,p.Lys617Glu,ENST00000274181,NM_139056.2;ADAMTS16,upstream_gene_variant,,ENST00000513709,;ADAMTS16,splice_region_variant,,ENST00000433402,;	uc003jdl.2	c.1849A>G	1987/4979	4	4			c.1849A>G						5	SNP	c.(1849-1851)AAG>GAG	19	19			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8	Broad	ADAM metallopeptidase with thrombospondin type 1			5232628		0.527	ENSG00000145536	260	g.chr5:5232628A>G	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding							238.85753	KEEP	50	32	-1	72	63	50	32	-1	241.489667	72	63	0.375	1	0	0	0	0	1	0	0	0	--	--		0	G			ADAMTS16_uc003jdk.1_Missense_Mutation_p.K617E|ADAMTS16_uc010itk.1_5'Flank	45	GBM-06-0195-TP	p.K617E	A	CACCAACCCCAAGTAAGTATG	NM_139056	NP_620687	5232628	Q8TE57	ATS16_HUMAN	0			12	1987	+	G	G			Missense_Mutation	617			TSP type-1 1.			
ADAMTS16	170690	broad.mit.edu	GRCh37	5	5182257	5182257	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0221-01	TCGA-06-0221-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274181.7:c.604del	p.His202ThrfsTer20	p.H202Tfs*20	ENST00000274181	NM_139056.2	201	tCc/tc	0			1			-	S/X	uc003jdl.2	protein_coding	YES	CCDS43299.1			602/3675									ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8	c.(601-603)TCCfs			Pfam_domain:PF01562,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF140	ADAM metallopeptidase with thrombospondin type 1				ENSP00000274181		23-Apr									COSM2151003,COSM2151002	23-Apr	.		ENST00000274181	Transcript			proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000145536	g.chr5:5182257delC	17108	2		HIGH								--	--	1																																		ADAMTS16_uc003jdk.1_Frame_Shift_Del_p.S201fs|ADAMTS16_uc003jdj.1_Frame_Shift_Del_p.S201fs	1,1	1			p.S201fs	NM_139056	NP_620687			1,1	ATS16_HUMAN	ADAMTS16	HGNC	Q8TE57	ATS16_HUMAN			B2G3Q1_HUMAN		4	740	+			UPI00004572CA	201					deletion	ADAMTS16,frameshift_variant,p.His202ThrfsTer20,ENST00000274181,NM_139056.2;ADAMTS16,frameshift_variant,p.His202ThrfsTer20,ENST00000511368,;ADAMTS16,non_coding_transcript_exon_variant,,ENST00000433402,;	uc003jdl.2	c.602delC	740/4979	5	5			c.602delC						5	DEL	c.(601-603)TCCfs	64	64			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8	Broad	ADAM metallopeptidase with thrombospondin type 1			5182257		0.567	ENSG00000145536	260	g.chr5:5182257delC	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding																				0.3	1	1	0	1	0	0	0	0	0	--	--		0	-			ADAMTS16_uc003jdk.1_Frame_Shift_Del_p.S201fs|ADAMTS16_uc003jdj.1_Frame_Shift_Del_p.S201fs	53	GBM-06-0221-TP	p.S201fs	C	AGCTCGCCATCCCACGTACTG	NM_139056	NP_620687	5182257	Q8TE57	ATS16_HUMAN	0			4	740	+	-	-			Frame_Shift_Del	201						
ADAMTS16	170690	broad.mit.edu	GRCh37	5	5146486	5146486	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274181.7:c.419C>T	p.Pro140Leu	p.P140L	ENST00000274181	NM_139056.2	140	cCg/cTg	0			1			T	P/L	uc003jdl.2	protein_coding	YES	CCDS43299.1			419/3675									ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8	c.(418-420)CCG>CTG			Pfam_domain:PF01562,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF140	ADAM metallopeptidase with thrombospondin type 1				ENSP00000274181		23-Mar	3.31E-05		0.000259			1.50E-05			rs752666810,COSM306000,COSM306001	23-Mar	.		ENST00000274181	Transcript			proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000145536	g.chr5:5146486C>T	17108			MODERATE		1.14	low	getma.org/?cm=msa&ty=f&p=ATS16_HUMAN&rb=60&re=205&var=P140L	NA	getma.org/?cm=var&var=hg19,5,5146486,C,T&fts=all	P140L	--	--	1																																		ADAMTS16_uc003jdk.1_Missense_Mutation_p.P140L|ADAMTS16_uc003jdj.1_Missense_Mutation_p.P140L	0,1,1	1		benign(0.009)	p.P140L	NM_139056	NP_620687		tolerated(0.45)	0,1,1	ATS16_HUMAN	ADAMTS16	HGNC	Q8TE57	ATS16_HUMAN			B2G3Q1_HUMAN		3	557	+			UPI00004572CA	140					SNV	ADAMTS16,missense_variant,p.Pro140Leu,ENST00000274181,NM_139056.2;ADAMTS16,missense_variant,p.Pro140Leu,ENST00000511368,;CTD-2297D10.1,intron_variant,,ENST00000514848,;ADAMTS16,non_coding_transcript_exon_variant,,ENST00000433402,;	uc003jdl.2	c.419C>T	557/4979	1	1			c.419C>T						5	SNP	c.(418-420)CCG>CTG	15	15			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8	Broad	ADAM metallopeptidase with thrombospondin type 1			5146486		0.522	ENSG00000145536	260	g.chr5:5146486C>T	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding							233.909711	KEEP	33	48	-1	87	99	33	48	-1	240.743423	87	99	0.320833	1	0	0	0	0	1	0	0	0	--	--		0	T			ADAMTS16_uc003jdk.1_Missense_Mutation_p.P140L|ADAMTS16_uc003jdj.1_Missense_Mutation_p.P140L	73	GBM-06-0877-TP	p.P140L	C	CAGACTTTACCGCCAGAGGAC	NM_139056	NP_620687	5146486	Q8TE57	ATS16_HUMAN	0			3	557	+	T	T			Missense_Mutation	140						
ADAMTS16	170690	broad.mit.edu	GRCh37	5	5146447	5146447	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5414-01	TCGA-06-5414-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274181.7:c.380C>T	p.Thr127Met	p.T127M	ENST00000274181	NM_139056.2	127	aCg/aTg	0		T:0.0008	1	T:0		T	T/M	uc003jdl.2	protein_coding	YES	CCDS43299.1			380/3675									ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8	c.(379-381)ACG>ATG			Pfam_domain:PF01562,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF140	ADAM metallopeptidase with thrombospondin type 1		T:0		ENSP00000274181	T:0	23-Mar	8.27E-06	0.000102							rs558198391,COSM3410300,COSM3410299	23-Mar	.		ENST00000274181	Transcript		T:0.0002	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000145536	g.chr5:5146447C>T	17108			MODERATE		1.92	medium	getma.org/?cm=msa&ty=f&p=ATS16_HUMAN&rb=60&re=205&var=T127M	NA	getma.org/?cm=var&var=hg19,5,5146447,C,T&fts=all	T127M	--	--	1																																		ADAMTS16_uc003jdk.1_Missense_Mutation_p.T127M|ADAMTS16_uc003jdj.1_Missense_Mutation_p.T127M	0,1,1	1		benign(0.298)	p.T127M	NM_139056	NP_620687	T:0	tolerated(0.2)	0,1,1	ATS16_HUMAN	ADAMTS16	HGNC	Q8TE57	ATS16_HUMAN			B2G3Q1_HUMAN		3	518	+			UPI00004572CA	127					SNV	ADAMTS16,missense_variant,p.Thr127Met,ENST00000274181,NM_139056.2;ADAMTS16,missense_variant,p.Thr127Met,ENST00000511368,;CTD-2297D10.1,intron_variant,,ENST00000514848,;ADAMTS16,non_coding_transcript_exon_variant,,ENST00000433402,;	uc003jdl.2	c.380C>T	518/4979	2	2			c.380C>T						5	SNP	c.(379-381)ACG>ATG	20	20			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8	Broad	ADAM metallopeptidase with thrombospondin type 1			5146447		0.522	ENSG00000145536	260	g.chr5:5146447C>T	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding							196.103663	KEEP	37	41	-1	52	66	37	41	-1	198.228388	52	66	0.384615	1	0	0	0	0	1	0	0	0	--	--		0	T			ADAMTS16_uc003jdk.1_Missense_Mutation_p.T127M|ADAMTS16_uc003jdj.1_Missense_Mutation_p.T127M	97	GBM-06-5414-TP	p.T127M	C	ATTGTGCAGACGTTGGGAAAG	NM_139056	NP_620687	5146447	Q8TE57	ATS16_HUMAN	0			3	518	+	T	T			Missense_Mutation	127						
ADAMTS16	170690	broad.mit.edu	GRCh37	5	5190212	5190212	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-5414-01	TCGA-06-5414-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274181.7:c.1176T>C	p.Cys392=	p.C392=	ENST00000274181	NM_139056.2	392	tgT/tgC	0			1			C	C	uc003jdl.2	protein_coding	YES	CCDS43299.1			1176/3675									ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8	c.(1174-1176)TGT>TGC			Gene3D:3.40.390.10,Pfam_domain:PF01421,PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF140,Superfamily_domains:SSF55486	ADAM metallopeptidase with thrombospondin type 1				ENSP00000274181		23-Jul									COSM3410302,COSM3410301	23-Jul	.		ENST00000274181	Transcript			proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000145536	g.chr5:5190212T>C	17108			LOW								--	--	1																																		ADAMTS16_uc003jdk.1_Silent_p.C392C|ADAMTS16_uc003jdj.1_Silent_p.C392C	1,1	1			p.C392C	NM_139056	NP_620687			1,1	ATS16_HUMAN	ADAMTS16	HGNC	Q8TE57	ATS16_HUMAN			B2G3Q1_HUMAN		7	1314	+			UPI00004572CA	392			Peptidase M12B.		SNV	ADAMTS16,synonymous_variant,p.=,ENST00000274181,NM_139056.2;ADAMTS16,synonymous_variant,p.=,ENST00000511368,;ADAMTS16,non_coding_transcript_exon_variant,,ENST00000433402,;	uc003jdl.2	c.1176T>C	1314/4979	4	4			c.1176T>C						5	SNP	c.(1174-1176)TGT>TGC	35	35			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8	Broad	ADAM metallopeptidase with thrombospondin type 1			5190212		0.527	ENSG00000145536	260	g.chr5:5190212T>C	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding							144.380157	KEEP	27	19	-1	52	52	27	19	-1	148.601127	52	52	0.313869	1	0	0	0	0	0	0	1	0	--	--		0	C			ADAMTS16_uc003jdk.1_Silent_p.C392C|ADAMTS16_uc003jdj.1_Silent_p.C392C	97	GBM-06-5414-TP	p.C392C	T	TGGATATATGTTCCTGGAAGA	NM_139056	NP_620687	5190212	Q8TE57	ATS16_HUMAN	0			7	1314	+	C	C			Silent	392			Peptidase M12B.			
ADAMTS16	0	broad.mit.edu	GRCh37	5	5200249	5200249	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274181.7:c.1318G>T	p.Gly440Cys	p.G440C	ENST00000274181	NM_139056.2	440	Ggc/Tgc	0			1			T	G/C	uc003jdl.2	protein_coding	YES	CCDS43299.1			1318/3675									ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8	c.(1318-1320)GGC>TGC			Gene3D:3.40.390.10,Pfam_domain:PF01421,PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF140,Superfamily_domains:SSF55486	ADAM metallopeptidase with thrombospondin type 1				ENSP00000274181		23-Sep									COSM2156057,COSM2156056	23-Sep	.		ENST00000274181	Transcript			proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000145536	g.chr5:5200249G>T	17108			MODERATE		3.99	high	getma.org/?cm=msa&ty=f&p=ATS16_HUMAN&rb=291&re=495&var=G440C	getma.org/pdb.php?prot=ATS16_HUMAN&from=291&to=495&var=G440C	getma.org/?cm=var&var=hg19,5,5200249,G,T&fts=all	G440C	--	--	1																																		ADAMTS16_uc003jdk.1_Missense_Mutation_p.G440C|ADAMTS16_uc003jdj.1_Missense_Mutation_p.G440C	1,1	1		probably_damaging(1)	p.G440C	NM_139056	NP_620687		deleterious(0)	1,1	ATS16_HUMAN	ADAMTS16	HGNC	Q8TE57	ATS16_HUMAN			B2G3Q1_HUMAN		9	1456	+			UPI00004572CA	440			Peptidase M12B.		SNV	ADAMTS16,missense_variant,p.Gly440Cys,ENST00000274181,NM_139056.2;ADAMTS16,missense_variant,p.Gly440Cys,ENST00000511368,;ADAMTS16,non_coding_transcript_exon_variant,,ENST00000433402,;	uc003jdl.2	c.1318G>T	1456/4979	1	1			c.1318G>T						5	SNP	c.(1318-1320)GGC>TGC	1	1			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8	Broad	ADAM metallopeptidase with thrombospondin type 1			5200249		0.388	ENSG00000145536	260	g.chr5:5200249G>T	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding							23.796113	KEEP	5	3	0.625	4	7	5	3	0.625	23.89963	4	7	0.421053	1	0	0	0	0	1	0	0	0	--	--		0	T			ADAMTS16_uc003jdk.1_Missense_Mutation_p.G440C|ADAMTS16_uc003jdj.1_Missense_Mutation_p.G440C	160	GBM-19-1790-TP	p.G440C	G	tcATAGCTTTGGCATGATTCA	NM_139056	NP_620687	5200249	Q8TE57	ATS16_HUMAN	0			9	1456	+	T	T			Missense_Mutation	440			Peptidase M12B.			
ADAMTS16	170690		GRCh37	5	5262847	5262847	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000274181.7:c.2740C>T	p.Arg914Ter	p.R914*	ENST00000274181	NM_139056.2	914	Cga/Tga	0																																																																																																																																																																																																																																												
ADAMTS18	170692	broad.mit.edu	GRCh37	16	77401546	77401546	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0939-01	TCGA-06-0939-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282849.5:c.570C>A	p.Asn190Lys	p.N190K	ENST00000282849	NM_199355.2	190	aaC/aaA	0			1			T	N/K	uc002ffc.3	protein_coding	YES	CCDS10926.1			570/3666									large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18	c.(568-570)AAC>AAA			Pfam_domain:PF01562,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF167	ADAM metallopeptidase with thrombospondin type 1				ENSP00000282849		23-Apr									COSM3402487	23-Apr	.		ENST00000282849	Transcript	1		proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000140873	g.chr16:77401546G>T	17110			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=ATS18_HUMAN&rb=61&re=203&var=N190K	NA	getma.org/?cm=var&var=hg19,16,77401546,G,T&fts=all	N190K	--	--	1																																		ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_RNA	1	1		benign(0.366)	p.N190K	NM_199355	NP_955387		deleterious(0.04)	1	ATS18_HUMAN	ADAMTS18	HGNC	Q8TE60	ATS18_HUMAN					4	989	-			UPI0000233610	190					SNV	ADAMTS18,missense_variant,p.Asn190Lys,ENST00000282849,NM_199355.2;ADAMTS18,missense_variant,p.Asn105Lys,ENST00000562345,;ADAMTS18,non_coding_transcript_exon_variant,,ENST00000567121,;ADAMTS18,non_coding_transcript_exon_variant,,ENST00000564369,;ADAMTS18,missense_variant,p.Asn190Lys,ENST00000449265,;ADAMTS18,non_coding_transcript_exon_variant,,ENST00000569309,;ADAMTS18,non_coding_transcript_exon_variant,,ENST00000567914,;	uc002ffc.3	c.570C>A	989/5913	2	2			c.570C>A						16	SNP	c.(568-570)AAC>AAA	44	44			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18	Broad	ADAM metallopeptidase with thrombospondin type 1			77401546		0.502	ENSG00000140873	262	g.chr16:77401546G>T	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			1451			1451	-14.166587	KEEP	5	5	0.5	96	79	5	5	0.5	18.958643	96	79	0.05625	1	0	0	0	0	1	0	0	0	--	--		0	T			ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_RNA	78	GBM-06-0939-TP	p.N190K	G	GGGAGCTGTAGTTGTGTTCCT	NM_199355	NP_955387	77401546	Q8TE60	ATS18_HUMAN	0			4	989	-	T	T			Missense_Mutation	190						
ADAMTS18	0	broad.mit.edu	GRCh37	16	77389861	77389861	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282849.5:c.1436G>A	p.Arg479His	p.R479H	ENST00000282849	NM_199355.2	479	cGc/cAc	0			1			T	R/H	uc002ffc.3	protein_coding	YES	CCDS10926.1			1436/3666									large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18	c.(1435-1437)CGC>CAC			Gene3D:3.40.390.10,Pfam_domain:PF01421,PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF167,Superfamily_domains:SSF55486	ADAM metallopeptidase with thrombospondin type 1				ENSP00000282849		23-Sep	8.24E-06							6.06E-05	rs759290262,COSM252324	23-Sep	.		ENST00000282849	Transcript	1		proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000140873	g.chr16:77389861C>T	17110			MODERATE		3.01	medium	getma.org/?cm=msa&ty=f&p=ATS18_HUMAN&rb=294&re=498&var=R479H	getma.org/pdb.php?prot=ATS18_HUMAN&from=294&to=498&var=R479H	getma.org/?cm=var&var=hg19,16,77389861,C,T&fts=all	R479H	--	--	1																																		ADAMTS18_uc010chc.1_Missense_Mutation_p.R67H|ADAMTS18_uc002ffe.1_Missense_Mutation_p.R175H|ADAMTS18_uc010vni.1_RNA	0,1	1		probably_damaging(0.994)	p.R479H	NM_199355	NP_955387		deleterious(0)	0,1	ATS18_HUMAN	ADAMTS18	HGNC	Q8TE60	ATS18_HUMAN					9	1855	-			UPI0000233610	479			Peptidase M12B.		SNV	ADAMTS18,missense_variant,p.Arg479His,ENST00000282849,NM_199355.2;ADAMTS18,3_prime_UTR_variant,,ENST00000449265,;	uc002ffc.3	c.1436G>A	1855/5913	2	2			c.1436G>A						16	SNP	c.(1435-1437)CGC>CAC	48	48			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18	Broad	ADAM metallopeptidase with thrombospondin type 1			77389861		0.488	ENSG00000140873	262	g.chr16:77389861C>T	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			1451			1451	-37.755591	KEEP	2	2	-1	110	128	2	2	-1	6.930102	110	128	0.022727	1	0	0	0	0	1	0	0	0	--	--		0	T			ADAMTS18_uc010chc.1_Missense_Mutation_p.R67H|ADAMTS18_uc002ffe.1_Missense_Mutation_p.R175H|ADAMTS18_uc010vni.1_RNA	271	GBM-76-4932-TP	p.R479H	C	GAGATACTGGCGGCTGCAGGA	NM_199355	NP_955387	77389861	Q8TE60	ATS18_HUMAN	0			9	1855	-	T	T			Missense_Mutation	479			Peptidase M12B.			
ADAMTS18	170692		GRCh37	16	77355016	77355016	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000282849.5:c.2247G>C	p.Lys749Asn	p.K749N	ENST00000282849	NM_199355.2	749	aaG/aaC	0																																																																																																																																																																																																																																												
ADAMTS18	170692		GRCh37	16	77356301	77356301	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000282849.5:c.2095G>A	p.Gly699Ser	p.G699S	ENST00000282849	NM_199355.2	699	Ggc/Agc	0																																																																																																																																																																																																																																												
ADAMTS19	171019	broad.mit.edu	GRCh37	5	129037232	129037232	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01	TCGA-06-0188-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274487.4:c.3088C>T	p.Arg1030Cys	p.R1030C	ENST00000274487	NM_133638.3	1030	Cgc/Tgc	0			1			T	R/C	uc003kvb.1	protein_coding	YES	CCDS4146.1			3088/3624									ovary(5)|breast(2)|lung(1)|skin(1)	9	c.(3088-3090)CGC>TGC			PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF151,Pfam_domain:PF00090,Gene3D:2.20.100.10,Superfamily_domains:SSF82895	ADAM metallopeptidase with thrombospondin type 1				ENSP00000274487		20/23	8.24E-06			0.000116					rs749725000,COSM2150587	20/23	.		ENST00000274487	Transcript			proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000145808	g.chr5:129037232C>T	17111			MODERATE		2.15	medium	getma.org/?cm=msa&ty=f&p=ATS19_HUMAN&rb=981&re=1037&var=R1030C	NA	getma.org/?cm=var&var=hg19,5,129037232,C,T&fts=all	R1030C	--	--	1																																		ADAMTS19_uc010jdh.1_RNA	0,1	1		possibly_damaging(0.67)	p.R1030C	NM_133638	NP_598377		tolerated(0.06)	0,1	ATS19_HUMAN	ADAMTS19	HGNC	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)			20	3088	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	UPI000013DA0D	1030			TSP type-1 3.		SNV	ADAMTS19,missense_variant,p.Arg1030Cys,ENST00000274487,NM_133638.3;CTC-575N7.1,intron_variant,,ENST00000503616,;ADAMTS19,non_coding_transcript_exon_variant,,ENST00000509467,;	uc003kvb.1	c.3088C>T	3233/5234	1	1			c.3088C>T						5	SNP	c.(3088-3090)CGC>TGC	5	5			ovary(5)|breast(2)|lung(1)|skin(1)	9	Broad	ADAM metallopeptidase with thrombospondin type 1			129037232		0.592	ENSG00000145808	263	g.chr5:129037232C>T	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			425			425	45.283743	KEEP	14	17	-1	37	57	14	17	-1	50.504861	37	57	0.234568	1	0	0	0	0	1	0	0	0	--	--		0	T			ADAMTS19_uc010jdh.1_RNA	41	GBM-06-0188-TP	p.R1030C	C	CTCTGCCCAGCGCTGTGAGGG	NM_133638	NP_598377	129037232	Q8TE59	ATS19_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	20	3088	+	T	T		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	Missense_Mutation	1030			TSP type-1 3.			
ADAMTS19	171019	broad.mit.edu	GRCh37	5	128796140	128796140	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0237-01	TCGA-06-0237-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274487.4:c.38A>C	p.Tyr13Ser	p.Y13S	ENST00000274487	NM_133638.3	13	tAc/tCc	0			1			C	Y/S	uc003kvb.1	protein_coding	YES	CCDS4146.1			38/3624									ovary(5)|breast(2)|lung(1)|skin(1)	9	c.(37-39)TAC>TCC			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF151	ADAM metallopeptidase with thrombospondin type 1				ENSP00000274487		23-Jan									COSM3409711	23-Jan	.		ENST00000274487	Transcript			proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000145808	g.chr5:128796140A>C	17111			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=ATS19_HUMAN&rb=7&re=120&var=Y13S	NA	getma.org/?cm=var&var=hg19,5,128796140,A,C&fts=all	Y13S	--	--	1																																		ADAMTS19_uc003kvc.1_5'Flank	1	1		benign(0.403)	p.Y13S	NM_133638	NP_598377		tolerated_low_confidence(0.06)	1	ATS19_HUMAN	ADAMTS19	HGNC	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)			1	38	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	UPI000013DA0D	13					SNV	ADAMTS19,missense_variant,p.Tyr13Ser,ENST00000274487,NM_133638.3;ADAMTS19-AS1,non_coding_transcript_exon_variant,,ENST00000502827,;ADAMTS19,missense_variant,p.Tyr13Ser,ENST00000505791,;ADAMTS19,upstream_gene_variant,,ENST00000502709,;	uc003kvb.1	c.38A>C	183/5234	3	3			c.38A>C						5	SNP	c.(37-39)TAC>TCC	52	52			ovary(5)|breast(2)|lung(1)|skin(1)	9	Broad	ADAM metallopeptidase with thrombospondin type 1			128796140		0.622	ENSG00000145808	263	g.chr5:128796140A>C	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			425			425	-15.02128	KEEP	5	2	-1	68	65	5	2	-1	10.213014	68	65	0.044248	1	0	0	0	0	1	0	0	0	--	--		0	C			ADAMTS19_uc003kvc.1_5'Flank	54	GBM-06-0237-TP	p.Y13S	A	TGCCTCCTTTACCAGCTGGGG	NM_133638	NP_598377	128796140	Q8TE59	ATS19_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	1	38	+	C	C		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	Missense_Mutation	13						
ADAMTS19	171019	broad.mit.edu	GRCh37	5	129015540	129015540	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs149851287		TCGA-06-5859-01	TCGA-06-5859-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274487.4:c.2572G>A	p.Val858Ile	p.V858I	ENST00000274487	NM_133638.3	858	Gtt/Att	0	A:0.0005	A:0	1	A:0		A	V/I	uc003kvb.1	protein_coding	YES	CCDS4146.1			2572/3624									ovary(5)|breast(2)|lung(1)|skin(1)	9	c.(2572-2574)GTT>ATT			hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF151,Pfam_domain:PF05986	ADAM metallopeptidase with thrombospondin type 1		A:0	A:0	ENSP00000274487	A:0.001	17/23	9.88E-05	0.000385	8.64E-05			8.99E-05		6.06E-05	rs149851287,COSM2153412	17/23	.		ENST00000274487	Transcript		A:0.0002	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000145808	g.chr5:129015540G>A	17111			MODERATE		0.795	neutral	getma.org/?cm=msa&ty=f&p=ATS19_HUMAN&rb=790&re=900&var=V858I	NA	getma.org/?cm=var&var=hg19,5,129015540,G,A&fts=all	V858I	--	--	1																																		ADAMTS19_uc010jdh.1_RNA	0,1	1		possibly_damaging(0.881)	p.V858I	NM_133638	NP_598377	A:0	tolerated(0.08)	0,1	ATS19_HUMAN	ADAMTS19	HGNC	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)			17	2572	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	UPI000013DA0D	858			Spacer.		SNV	ADAMTS19,missense_variant,p.Val858Ile,ENST00000274487,NM_133638.3;CTC-575N7.1,intron_variant,,ENST00000503616,;	uc003kvb.1	c.2572G>A	2717/5234	2	2			c.2572G>A						5	SNP	c.(2572-2574)GTT>ATT	45	45			ovary(5)|breast(2)|lung(1)|skin(1)	9	Broad	ADAM metallopeptidase with thrombospondin type 1			129015540		0.433	ENSG00000145808	263	g.chr5:129015540G>A	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			425			425	105.845724	KEEP	23	19	-1	40	72	23	19	-1	111.61254	40	72	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	A			ADAMTS19_uc010jdh.1_RNA	103	GBM-06-5859-TP	p.V858I	G	TGGAACTACCGTTCATTATGT	NM_133638	NP_598377	129015540	Q8TE59	ATS19_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	17	2572	+	A	A		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	Missense_Mutation	858			Spacer.			
ADAMTS19	171019		GRCh37	5	128862027	128862027	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000274487.4:c.946C>T	p.Arg316Ter	p.R316*	ENST00000274487	NM_133638.3	316	Cga/Tga	0																																																																																																																																																																																																																																												
ADAMTS2	9509	broad.mit.edu	GRCh37	5	178556976	178556976	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01	TCGA-02-0047-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251582.7:c.2414C>T	p.Thr805Met	p.T805M	ENST00000251582	NM_014244.4	805	aCg/aTg	0	A:0	A:0	1	A:0		A	T/M	uc003mjw.2	protein_coding	YES	CCDS4444.1			2414/3636									large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	c.(2413-2415)ACG>ATG			Pfam_domain:PF05986,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF141	ADAM metallopeptidase with thrombospondin type 1		A:0	A:0.0001	ENSP00000251582	A:0	16/22	5.77E-05			0.000231		6.05E-05		6.06E-05	rs370350117,COSM2149021	16/22	.		ENST00000251582	Transcript	1	A:0.0002	collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000087116	g.chr5:178556976G>A	218			MODERATE		1.895	low	getma.org/?cm=msa&ty=f&p=ATS2_HUMAN&rb=723&re=837&var=T805M	NA	getma.org/?cm=var&var=hg19,5,178556976,G,A&fts=all	T805M	--	--	1																																			0,1	1		possibly_damaging(0.529)	p.T805M	NM_014244	NP_055059	A:0.001	deleterious(0.02)	0,1	ATS2_HUMAN	ADAMTS2	HGNC	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)			16	2414	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	UPI00001AE729	805			Spacer.		SNV	ADAMTS2,missense_variant,p.Thr805Met,ENST00000251582,NM_014244.4;	uc003mjw.2	c.2414C>T	2516/6754	2	2			c.2414C>T						5	SNP	c.(2413-2415)ACG>ATG	41	41			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Broad	ADAM metallopeptidase with thrombospondin type 1			178556976		0.607	ENSG00000087116	264	g.chr5:178556976G>A	collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			1974			1974	111.780229	KEEP	22	22	-1	40	36	22	22	-1	112.430799	40	36	0.412371	1	0	0	0	0	1	0	0	0	--	--		0	A				3	GBM-02-0047-TP	p.T805M	G	GGTCTGCAGCGTCTCCCGGCC	NM_014244	NP_055059	178556976	O95450	ATS2_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	16	2414	-	A	A	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Missense_Mutation	805			Spacer.			
ADAMTS2	9509	broad.mit.edu	GRCh37	5	178585775	178585775	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01	TCGA-02-0047-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251582.7:c.1081G>A	p.Asp361Asn	p.D361N	ENST00000251582	NM_014244.4	361	Gat/Aat	0			1			T	D/N	uc003mjw.2	protein_coding	YES	CCDS4444.1			1081/3636									large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	c.(1081-1083)GAT>AAT			Superfamily_domains:SSF55486,Pfam_domain:PF01421,Gene3D:3.40.390.10,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF141,PROSITE_profiles:PS50215	ADAM metallopeptidase with thrombospondin type 1				ENSP00000251582		22-Jun	8.24E-06					1.50E-05			rs755997172,COSM1620142	22-Jun	.		ENST00000251582	Transcript	1		collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000087116	g.chr5:178585775C>T	218			MODERATE		3.44	medium	getma.org/?cm=msa&ty=f&p=ATS2_HUMAN&rb=266&re=470&var=D361N	getma.org/pdb.php?prot=ATS2_HUMAN&from=266&to=470&var=D361N	getma.org/?cm=var&var=hg19,5,178585775,C,T&fts=all	D361N	--	--	1																																		ADAMTS2_uc011dgm.1_Missense_Mutation_p.D361N	0,1	1		probably_damaging(1)	p.D361N	NM_014244	NP_055059		deleterious(0)	0,1	ATS2_HUMAN	ADAMTS2	HGNC	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)			6	1081	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	UPI00001AE729	361			Peptidase M12B.		SNV	ADAMTS2,missense_variant,p.Asp361Asn,ENST00000251582,NM_014244.4;ADAMTS2,missense_variant,p.Asp361Asn,ENST00000274609,NM_021599.2;	uc003mjw.2	c.1081G>A	1183/6754	2	2			c.1081G>A						5	SNP	c.(1081-1083)GAT>AAT	33	33			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Broad	ADAM metallopeptidase with thrombospondin type 1			178585775		0.607	ENSG00000087116	264	g.chr5:178585775C>T	collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			1974			1974	115.176356	KEEP	30	23	-1	79	79	30	23	-1	125.097531	79	79	0.254144	1	0	0	0	0	1	0	0	0	--	--		0	T			ADAMTS2_uc011dgm.1_Missense_Mutation_p.D361N	3	GBM-02-0047-TP	p.D361N	C	ATGGCGTGATCGTGGTATTCA	NM_014244	NP_055059	178585775	O95450	ATS2_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	6	1081	-	T	T	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Missense_Mutation	361			Peptidase M12B.			
ADAMTS2	9509	broad.mit.edu	GRCh37	5	178581109	178581109	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0939-01	TCGA-06-0939-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251582.7:c.1323C>T	p.Ala441=	p.A441=	ENST00000251582	NM_014244.4	441	gcC/gcT	0			1			A	A	uc003mjw.2	protein_coding	YES	CCDS4444.1			1323/3636									large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	c.(1321-1323)GCC>GCT			Superfamily_domains:SSF55486,Pfam_domain:PF01421,Gene3D:3.40.390.10,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF141,PROSITE_profiles:PS50215	ADAM metallopeptidase with thrombospondin type 1				ENSP00000251582		22-Aug	1.66E-05		0.000444						rs781602081,COSM3410181	22-Aug	common_variant		ENST00000251582	Transcript	1		collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000087116	g.chr5:178581109G>A	218			LOW								--	--	1																																		ADAMTS2_uc011dgm.1_Silent_p.A441A	0,1	1			p.A441A	NM_014244	NP_055059			0,1	ATS2_HUMAN	ADAMTS2	HGNC	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)			8	1323	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	UPI00001AE729	441			Peptidase M12B.		SNV	ADAMTS2,synonymous_variant,p.=,ENST00000251582,NM_014244.4;ADAMTS2,synonymous_variant,p.=,ENST00000274609,NM_021599.2;	uc003mjw.2	c.1323C>T	1425/6754	1	1			c.1323C>T						5	SNP	c.(1321-1323)GCC>GCT	54	54			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Broad	ADAM metallopeptidase with thrombospondin type 1			178581109		0.711	ENSG00000087116	264	g.chr5:178581109G>A	collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			1974			1974	7.318611	KEEP	3	3	-1	6	5	3	3	-1	8.000978	6	5	0.25	1	0	0	0	0	0	0	1	0	--	--		0	A			ADAMTS2_uc011dgm.1_Silent_p.A441A	78	GBM-06-0939-TP	p.A441A	G	GGTGGAAGGCGGCCTGCACCA	NM_014244	NP_055059	178581109	O95450	ATS2_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	8	1323	-	A	A	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Silent	441			Peptidase M12B.			
ADAMTS2	9509	broad.mit.edu	GRCh37	5	178552111	178552111	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01	TCGA-06-2562-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251582.7:c.2821C>T	p.Arg941Cys	p.R941C	ENST00000251582	NM_014244.4	941	Cgc/Tgc	0			1			A	R/C	uc003mjw.2	protein_coding	YES	CCDS4444.1			2821/3636									large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	c.(2821-2823)CGC>TGC			Superfamily_domains:SSF82895,SMART_domains:SM00209,Pfam_domain:PF00090,Gene3D:2.20.100.10,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF141,PROSITE_profiles:PS50092	ADAM metallopeptidase with thrombospondin type 1				ENSP00000251582		19/22									COSM2152808	19/22	.		ENST00000251582	Transcript	1		collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000087116	g.chr5:178552111G>A	218			MODERATE		3.655	high	getma.org/?cm=msa&ty=f&p=ATS2_HUMAN&rb=919&re=975&var=R941C	NA	getma.org/?cm=var&var=hg19,5,178552111,G,A&fts=all	R941C	--	--	1																																			1	1		possibly_damaging(0.903)	p.R941C	NM_014244	NP_055059		deleterious(0.01)	1	ATS2_HUMAN	ADAMTS2	HGNC	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)			19	2821	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	UPI00001AE729	941			TSP type-1 3.		SNV	ADAMTS2,missense_variant,p.Arg941Cys,ENST00000251582,NM_014244.4;ADAMTS2,upstream_gene_variant,,ENST00000518335,;ADAMTS2,upstream_gene_variant,,ENST00000522937,;ADAMTS2,upstream_gene_variant,,ENST00000523450,;	uc003mjw.2	c.2821C>T	2923/6754	1	1			c.2821C>T						5	SNP	c.(2821-2823)CGC>TGC	49	49			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Broad	ADAM metallopeptidase with thrombospondin type 1			178552111		0.692	ENSG00000087116	264	g.chr5:178552111G>A	collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			1974			1974	203.630973	KEEP	37	55	-1	65	102	37	55	-1	208.00394	65	102	0.349776	1	0	0	0	0	1	0	0	0	--	--		0	A				85	GBM-06-2562-TP	p.R941C	G	TGAATGCAGCGCACGGAGCGC	NM_014244	NP_055059	178552111	O95450	ATS2_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	19	2821	-	A	A	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Missense_Mutation	941			TSP type-1 3.			
ADAMTS2	0	broad.mit.edu	GRCh37	5	178579165	178579165	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01	TCGA-26-6174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251582.7:c.1607G>A	p.Gly536Glu	p.G536E	ENST00000251582	NM_014244.4	536	gGg/gAg	0			1			T	G/E	uc003mjw.2	protein_coding	YES	CCDS4444.1			1607/3636									large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	c.(1606-1608)GGG>GAG			hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF141	ADAM metallopeptidase with thrombospondin type 1				ENSP00000251582		22-Oct									COSM3410180	22-Oct	.		ENST00000251582	Transcript	1		collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000087116	g.chr5:178579165C>T	218			MODERATE		3.6	high	getma.org/?cm=msa&ty=f&p=ATS2_HUMAN&rb=480&re=560&var=G536E	getma.org/pdb.php?prot=ATS2_HUMAN&from=480&to=560&var=G536E	getma.org/?cm=var&var=hg19,5,178579165,C,T&fts=all	G536E	--	--	1																																		ADAMTS2_uc011dgm.1_Missense_Mutation_p.G536E	1	1		probably_damaging(1)	p.G536E	NM_014244	NP_055059		deleterious(0)	1	ATS2_HUMAN	ADAMTS2	HGNC	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)			10	1607	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	UPI00001AE729	536			Disintegrin.		SNV	ADAMTS2,missense_variant,p.Gly536Glu,ENST00000251582,NM_014244.4;ADAMTS2,missense_variant,p.Gly536Glu,ENST00000274609,NM_021599.2;	uc003mjw.2	c.1607G>A	1709/6754	1	1			c.1607G>A						5	SNP	c.(1606-1608)GGG>GAG	7	7			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Broad	ADAM metallopeptidase with thrombospondin type 1			178579165		0.602	ENSG00000087116	264	g.chr5:178579165C>T	collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			1974			1974	22.578581	KEEP	8	3	-1	29	31	8	3	-1	29.101507	29	31	0.171875	1	0	0	0	0	1	0	0	0	--	--		0	T			ADAMTS2_uc011dgm.1_Missense_Mutation_p.G536E	188	GBM-26-6174-TP	p.G536E	C	ACACATAGTCCCGTCCAAGGG	NM_014244	NP_055059	178579165	O95450	ATS2_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	10	1607	-	T	T	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Missense_Mutation	536			Disintegrin.			
ADAMTS2	0	broad.mit.edu	GRCh37	5	178556986	178556986	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1986-01	TCGA-32-1986-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251582.7:c.2404G>A	p.Gly802Ser	p.G802S	ENST00000251582	NM_014244.4	802	Ggc/Agc	0		A:0	1	A:0		T	G/S	uc003mjw.2	protein_coding	YES	CCDS4444.1			2404/3636									large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	c.(2404-2406)GGC>AGC			Pfam_domain:PF05986,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF141	ADAM metallopeptidase with thrombospondin type 1		A:0		ENSP00000251582	A:0	16/22	4.12E-05		0.00026			3.02E-05			rs537171944,COSM3410179	16/22	.		ENST00000251582	Transcript	1	A:0.0002	collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000087116	g.chr5:178556986C>T	218			MODERATE		1.14	low	getma.org/?cm=msa&ty=f&p=ATS2_HUMAN&rb=723&re=837&var=G802S	NA	getma.org/?cm=var&var=hg19,5,178556986,C,T&fts=all	G802S	--	--	1																																			0,1	1		benign(0.311)	p.G802S	NM_014244	NP_055059	A:0.001	tolerated(0.2)	0,1	ATS2_HUMAN	ADAMTS2	HGNC	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)			16	2404	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	UPI00001AE729	802			Spacer.		SNV	ADAMTS2,missense_variant,p.Gly802Ser,ENST00000251582,NM_014244.4;	uc003mjw.2	c.2404G>A	2506/6754	2	2			c.2404G>A						5	SNP	c.(2404-2406)GGC>AGC	26	26			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Broad	ADAM metallopeptidase with thrombospondin type 1			178556986		0.602	ENSG00000087116	264	g.chr5:178556986C>T	collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			1974			1974	-7.289783	KEEP	3	2	-1	50	52	3	2	-1	10.581751	50	52	0.057471	1	0	0	0	0	1	0	0	0	--	--		0	T				233	GBM-32-1986-TP	p.G802S	C	GTCTCCCGGCCGTCCTCGTCT	NM_014244	NP_055059	178556986	O95450	ATS2_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	16	2404	-	T	T	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Missense_Mutation	802			Spacer.			
ADAMTS2	9509		GRCh37	5	178555036	178555036	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000251582.7:c.2541C>T	p.Asn847=	p.N847=	ENST00000251582	NM_014244.4	847	aaC/aaT	0																																																																																																																																																																																																																																												
ADAMTS20	0	broad.mit.edu	GRCh37	12	43833726	43833726	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389420.3:c.2437C>T	p.Arg813Ter	p.R813*	ENST00000389420	NM_025003.3	813	Cga/Tga	0			1			A	R/*	uc010skx.1	protein_coding	YES	CCDS31778.2			2437/5733									central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	c.(2437-2439)CGA>TGA			hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Pfam_domain:PF05986	a disintegrin-like and metalloprotease with				ENSP00000374071		17/39									COSM3398714,COSM939316,COSM3398715	17/39	.		ENST00000389420	Transcript				proteinaceous extracellular matrix	zinc ion binding	ENSG00000173157	g.chr12:43833726G>A	17178			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,12,43833726,G,A&fts=all	R813*	--	--	1																																		ADAMTS20_uc001rno.1_5'Flank|ADAMTS20_uc001rnp.1_5'Flank	1,1,1	1			p.R813*	NM_025003	NP_079279			1,1,1	ATS20_HUMAN	ADAMTS20	HGNC	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)			17	2437	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	UPI00004565F4	813			Spacer.		SNV	ADAMTS20,stop_gained,p.Arg813Ter,ENST00000389420,NM_025003.3;ADAMTS20,stop_gained,p.Arg813Ter,ENST00000553158,;ADAMTS20,upstream_gene_variant,,ENST00000395541,;ADAMTS20,upstream_gene_variant,,ENST00000549670,;	uc010skx.1	c.2437C>T	2437/6076	5	1			c.2437C>T						12	SNP	c.(2437-2439)CGA>TGA	52	52			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	Broad	a disintegrin-like and metalloprotease with			43833726		0.299	ENSG00000173157	265	g.chr12:43833726G>A		proteinaceous extracellular matrix	zinc ion binding			2149			2149	18.113865	KEEP	5	4	-1	14	6	5	4	-1	19.202109	14	6	0.28	1	0	0	0	0	0	1	0	0	--	--		0	A			ADAMTS20_uc001rno.1_5'Flank|ADAMTS20_uc001rnp.1_5'Flank	162	GBM-19-2620-TP	p.R813*	G	TTCTCTTGTCGATTAGTACTA	NM_025003	NP_079279	43833726	P59510	ATS20_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0473)	17	2437	-	A	A	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	Nonsense_Mutation	813			Spacer.			
ADAMTS20	0	broad.mit.edu	GRCh37	12	43771195	43771195	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-26-5132-01	TCGA-26-5132-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389420.3:c.4968C>G	p.Ala1656=	p.A1656=	ENST00000389420	NM_025003.3	1656	gcC/gcG	0			1			C	A	uc010skx.1	protein_coding	YES	CCDS31778.2			4968/5733									central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	c.(4966-4968)GCC>GCG			PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Superfamily_domains:SSF82895	a disintegrin-like and metalloprotease with				ENSP00000374071		32/39									COSM3398709,COSM3398710	32/39	.		ENST00000389420	Transcript				proteinaceous extracellular matrix	zinc ion binding	ENSG00000173157	g.chr12:43771195G>C	17178			LOW								--	--	1																																			1,1	1			p.A1656A	NM_025003	NP_079279			1,1	ATS20_HUMAN	ADAMTS20	HGNC	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)			32	4968	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	UPI00004565F4	1656			TSP type-1 15.		SNV	ADAMTS20,synonymous_variant,p.=,ENST00000389420,NM_025003.3;	uc010skx.1	c.4968C>G	4968/6076	4	4			c.4968C>G						12	SNP	c.(4966-4968)GCC>GCG	45	45			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	Broad	a disintegrin-like and metalloprotease with			43771195		0.403	ENSG00000173157	265	g.chr12:43771195G>C		proteinaceous extracellular matrix	zinc ion binding			2149			2149	91.117057	KEEP	14	10	-1	3	4	14	10	-1	93.257229	3	4	0.774194	1	0	0	0	0	0	0	1	0	--	--		0	C				181	GBM-26-5132-TP	p.A1656A	G	CTTTCCAAGTGGCCAAATGCA	NM_025003	NP_079279	43771195	P59510	ATS20_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0473)	32	4968	-	C	C	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	Silent	1656			TSP type-1 15.			
ADAMTS20	0	broad.mit.edu	GRCh37	12	43846340	43846340	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389420.3:c.1919G>C	p.Arg640Thr	p.R640T	ENST00000389420	NM_025003.3	640	aGg/aCg	0			1			G	R/T	uc010skx.1	protein_coding	YES	CCDS31778.2			1919/5733									central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	c.(1918-1920)AGG>ACG			hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165	a disintegrin-like and metalloprotease with				ENSP00000374071		13/39									COSM3398716,COSM3398717,COSM3398718	13/39	.		ENST00000389420	Transcript				proteinaceous extracellular matrix	zinc ion binding	ENSG00000173157	g.chr12:43846340C>G	17178			MODERATE		1.495	low	getma.org/?cm=msa&ty=f&p=ATS20_HUMAN&rb=611&re=720&var=R640T	getma.org/pdb.php?prot=ATS20_HUMAN&from=611&to=720&var=R640T	getma.org/?cm=var&var=hg19,12,43846340,C,G&fts=all	R640T	--	--	1																																			1,1,1	1		probably_damaging(0.997)	p.R640T	NM_025003	NP_079279		deleterious(0)	1,1,1	ATS20_HUMAN	ADAMTS20	HGNC	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)			13	1919	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	UPI00004565F4	640			Cys-rich.		SNV	ADAMTS20,missense_variant,p.Arg640Thr,ENST00000389420,NM_025003.3;ADAMTS20,missense_variant,p.Arg640Thr,ENST00000553158,;	uc010skx.1	c.1919G>C	1919/6076	3	3			c.1919G>C						12	SNP	c.(1918-1920)AGG>ACG	54	54			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	Broad	a disintegrin-like and metalloprotease with			43846340		0.368	ENSG00000173157	265	g.chr12:43846340C>G		proteinaceous extracellular matrix	zinc ion binding			2149			2149	1424.891091	KEEP	212	284	-1	25	24	212	284	-1	1495.53358	25	24	0.904651	1	0	0	0	0	1	0	0	0	--	--		0	G				246	GBM-32-4211-TP	p.R640T	C	TGGAAGCCACCTCACATTAGA	NM_025003	NP_079279	43846340	P59510	ATS20_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0473)	13	1919	-	G	G	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	Missense_Mutation	640			Cys-rich.			
ADAMTS3	0	broad.mit.edu	GRCh37	4	73184402	73184402	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs80237783		TCGA-32-2638-01	TCGA-32-2638-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286657.4:c.1372G>C	p.Asp458His	p.D458H	ENST00000286657	NM_014243.2	458	Gat/Cat	0			1			G	D/H	uc003hgk.1	protein_coding	YES	CCDS3553.1			1372/3618									ovary(1)|lung(1)	2	c.(1372-1374)GAT>CAT			PROSITE_profiles:PS50215,hmmpanther:PTHR13723:SF158,hmmpanther:PTHR13723,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486	ADAM metallopeptidase with thrombospondin type 1				ENSP00000286657		22-Oct									COSM3409465	22-Oct	.		ENST00000286657	Transcript			collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	ENSG00000156140	g.chr4:73184402C>G	219			MODERATE		3.21	medium	getma.org/?cm=msa&ty=f&p=ATS3_HUMAN&rb=257&re=460&var=D458H	getma.org/pdb.php?prot=ATS3_HUMAN&from=257&to=460&var=D458H	getma.org/?cm=var&var=hg19,4,73184402,C,G&fts=all	D458H	--	--	1																																			1	1		probably_damaging(0.999)	p.D458H	NM_014243	NP_055058		deleterious(0)	1	ATS3_HUMAN	ADAMTS3	HGNC	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Q96AY5_HUMAN		10	1409	-			UPI00001AEAEA	458			Peptidase M12B.		SNV	ADAMTS3,missense_variant,p.Asp458His,ENST00000286657,NM_014243.2;RP11-373J21.1,upstream_gene_variant,,ENST00000503918,;	uc003hgk.1	c.1372G>C	1409/5822	3	3			c.1372G>C						4	SNP	c.(1372-1374)GAT>CAT	62	62			ovary(1)|lung(1)	2	Broad	ADAM metallopeptidase with thrombospondin type 1			73184402		0.343	ENSG00000156140	266	g.chr4:73184402C>G	collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	NSCLC(168;1941 2048 2918 13048 43078)			NSCLC(168;1941 2048 2918 13048 43078)			106.442861	KEEP	14	18	-1	22	23	14	18	-1	106.647727	22	23	0.441176	1	0	0	0	0	1	0	0	0	--	--		0	G				242	GBM-32-2638-TP	p.D458H	C	AAAGGGTCATCAAGGAGACAG	NM_014243	NP_055058	73184402	O15072	ATS3_HUMAN	0	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		10	1409	-	G	G			Missense_Mutation	458			Peptidase M12B.			
ADAMTS5	11096	broad.mit.edu	GRCh37	21	28338490	28338490	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0237-01	TCGA-06-0237-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284987.5:c.221T>G	p.Val74Gly	p.V74G	ENST00000284987	NM_007038.3	74	gTg/gGg	0			1			C	V/G	uc002ymg.2	protein_coding	YES	CCDS13579.1			221/2793									upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4	c.(220-222)GTG>GGG			hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF37,Pfam_domain:PF01562,Prints_domain:PR01860	ADAM metallopeptidase with thrombospondin type 1				ENSP00000284987		8-Jan	8.31E-05				0.000312	6.57E-05	0.00123		rs775520551,COSM346233	8-Jan	.		ENST00000284987	Transcript			proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	ENSG00000154736	g.chr21:28338490A>C	221			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=ATS5_HUMAN&rb=38&re=182&var=V74G	NA	getma.org/?cm=var&var=hg19,21,28338490,A,C&fts=all	V74G	--	--	1																																			0,1	1		probably_damaging(0.922)	p.V74G	NM_007038	NP_008969		deleterious(0)	0,1	ATS5_HUMAN	ADAMTS5	HGNC	Q9UNA0	ATS5_HUMAN					1	950	-			UPI00001AEAC2	74					SNV	ADAMTS5,missense_variant,p.Val74Gly,ENST00000284987,NM_007038.3;	uc002ymg.2	c.221T>G	343/9056	3	3			c.221T>G						21	SNP	c.(220-222)GTG>GGG	52	52			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4	Broad	ADAM metallopeptidase with thrombospondin type 1			28338490		0.726	ENSG00000154736	268	g.chr21:28338490A>C	proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	Esophageal Squamous(53;683 1080 10100 14424 45938)			Esophageal Squamous(53;683 1080 10100 14424 45938)			-15.269136	KEEP	19	27	-1	67	81	19	27	-1	6.747998	67	81	0.105263	1	0	0	0	0	1	0	0	0	--	--		0	C				54	GBM-06-0237-TP	p.V74G	A	GATGTTCTGCACCAGCCCCTT	NM_007038	NP_008969	28338490	Q9UNA0	ATS5_HUMAN	0			1	950	-	C	C			Missense_Mutation	74						
ADAMTS6	11174	broad.mit.edu	GRCh37	5	64766854	64766854	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0155-01	TCGA-06-0155-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381055.3:c.213G>A	p.Arg71=	p.R71=	ENST00000381055	NM_197941.2	71	cgG/cgA	0			1			T	R	uc003jtp.2	protein_coding	YES	CCDS3983.2			213/3354										0	c.(211-213)CGG>CGA			Pfam_domain:PF01562,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF27	ADAM metallopeptidase with thrombospondin type 1				ENSP00000370443		25-Mar									COSM2150003	25-Mar	.		ENST00000381055	Transcript			proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000049192	g.chr5:64766854C>T	222			LOW								--	--	1																																		ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_5'UTR	1	1			p.R71R	NM_197941	NP_922932			1	ATS6_HUMAN	ADAMTS6	HGNC	Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	Q5IR90_HUMAN		3	1027	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	UPI000050D3F1	71					SNV	ADAMTS6,synonymous_variant,p.=,ENST00000381055,NM_197941.2;ADAMTS6,synonymous_variant,p.=,ENST00000464680,;ADAMTS6,synonymous_variant,p.=,ENST00000536360,;ADAMTS6,synonymous_variant,p.=,ENST00000381052,;ADAMTS6,non_coding_transcript_exon_variant,,ENST00000470597,;ADAMTS6,non_coding_transcript_exon_variant,,ENST00000502886,;	uc003jtp.2	c.213G>A	1070/7311	1	1			c.213G>A						5	SNP	c.(211-213)CGG>CGA	14	14				0	Broad	ADAM metallopeptidase with thrombospondin type 1			64766854		0.383	ENSG00000049192	269	g.chr5:64766854C>T	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding							182.482164	KEEP	37	38	-1	59	86	37	38	-1	187.948524	59	86	0.323232	1	0	0	0	0	0	0	1	0	--	--		0	T			ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_5'UTR	27	GBM-06-0155-TP	p.R71R	C	GGTCCATACTCCGTCTTCTCC	NM_197941	NP_922932	64766854	Q9UKP5	ATS6_HUMAN	0		Lung(70;0.00942)	3	1027	-	T	T		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	Silent	71						
ADAMTS6	0	broad.mit.edu	GRCh37	5	64520167	64520167	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs143194045		TCGA-28-5215-01	TCGA-28-5215-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381055.3:c.2252C>T	p.Ala751Val	p.A751V	ENST00000381055	NM_197941.2	751	gCc/gTc	0	A:0		1			A	A/V	uc003jtp.2	protein_coding	YES	CCDS3983.2			2252/3354										0	c.(2251-2253)GCC>GTC			Pfam_domain:PF05986,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF27	ADAM metallopeptidase with thrombospondin type 1			A:0.0001	ENSP00000370443		18/25	8.24E-06					1.50E-05			rs143194045,COSM3410341	18/25	.		ENST00000381055	Transcript			proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000049192	g.chr5:64520167G>A	222			MODERATE		1.63	low	getma.org/?cm=msa&ty=f&p=ATS6_HUMAN&rb=717&re=829&var=A751V	NA	getma.org/?cm=var&var=hg19,5,64520167,G,A&fts=all	A751V	--	--	1																																		ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Missense_Mutation_p.A372V	0,1	1		benign(0.016)	p.A751V	NM_197941	NP_922932		tolerated(0.53)	0,1	ATS6_HUMAN	ADAMTS6	HGNC	Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	Q5IR90_HUMAN		18	3066	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	UPI000050D3F1	751			Spacer.		SNV	ADAMTS6,missense_variant,p.Ala751Val,ENST00000381055,NM_197941.2;ADAMTS6,missense_variant,p.Ala751Val,ENST00000464680,;ADAMTS6,3_prime_UTR_variant,,ENST00000381052,;ADAMTS6,non_coding_transcript_exon_variant,,ENST00000470597,;	uc003jtp.2	c.2252C>T	3109/7311	1	1			c.2252C>T						5	SNP	c.(2251-2253)GCC>GTC	60	60				0	Broad	ADAM metallopeptidase with thrombospondin type 1			64520167		0.408	ENSG00000049192	269	g.chr5:64520167G>A	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding							-43.515383	KEEP	2	6	-1	129	106	2	6	-1	7.709699	129	106	0.02451	1	0	0	0	0	1	0	0	0	--	--		0	A			ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Missense_Mutation_p.A372V	222	GBM-28-5215-TP	p.A751V	G	CTTTGACATGGCAACTTCTCT	NM_197941	NP_922932	64520167	Q9UKP5	ATS6_HUMAN	0		Lung(70;0.00942)	18	3066	-	A	A		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	Missense_Mutation	751			Spacer.			
ADAMTS7	11173	broad.mit.edu	GRCh37	15	79059831	79059831	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-02-0047-01	TCGA-02-0047-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388820.4:c.2749A>C	p.Ser917Arg	p.S917R	ENST00000388820	NM_014272.3	917	Agc/Cgc	0			1			G	S/R	uc002bej.3	protein_coding	YES	CCDS32303.1			2749/5061										0	c.(2749-2751)AGC>CGC			hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF142,SMART_domains:SM00209,Superfamily_domains:SSF82895	ADAM metallopeptidase with thrombospondin type 1				ENSP00000373472		18/24									COSM2149019	18/24	.		ENST00000388820	Transcript			proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000136378	g.chr15:79059831T>G	223			MODERATE		-0.8	neutral	getma.org/?cm=msa&ty=f&p=ATS7_HUMAN&rb=881&re=940&var=S917R	NA	getma.org/?cm=var&var=hg19,15,79059831,T,G&fts=all	S917R	--	--	1																																		ADAMTS7_uc010und.1_Intron	1	1		benign(0.002)	p.S917R	NM_014272	NP_055087		tolerated(1)	1	ATS7_HUMAN	ADAMTS7	HGNC	Q9UKP4	ATS7_HUMAN					18	2960	-			UPI00002263B3	917			TSP type-1 3.		SNV	ADAMTS7,missense_variant,p.Ser917Arg,ENST00000388820,NM_014272.3;ADAMTS7,intron_variant,,ENST00000566303,;ADAMTS7,downstream_gene_variant,,ENST00000565793,;ADAMTS7,downstream_gene_variant,,ENST00000568712,;ADAMTS7,upstream_gene_variant,,ENST00000569934,;	uc002bej.3	c.2749A>C	2960/5490	3	3			c.2749A>C						15	SNP	c.(2749-2751)AGC>CGC	50	50				0	Broad	ADAM metallopeptidase with thrombospondin type 1			79059831		0.701	ENSG00000136378	270	g.chr15:79059831T>G	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding							47.247512	KEEP	7	8	-1	7	11	7	8	-1	47.356107	7	11	0.4375	1	0	0	0	0	1	0	0	0	--	--		0	G			ADAMTS7_uc010und.1_Intron	3	GBM-02-0047-TP	p.S917R	T	TCCAGGGCGCTCTGCTCATCC	NM_014272	NP_055087	79059831	Q9UKP4	ATS7_HUMAN	0			18	2960	-	G	G			Missense_Mutation	917			TSP type-1 3.			
ADAMTS7	0	broad.mit.edu	GRCh37	15	79059849	79059849	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-2575-01	TCGA-41-2575-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388820.4:c.2731G>A	p.Val911Met	p.V911M	ENST00000388820	NM_014272.3	911	Gtg/Atg	0		T:0	1	T:0		T	V/M	uc002bej.3	protein_coding	YES	CCDS32303.1			2731/5061										0	c.(2731-2733)GTG>ATG			hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF142,SMART_domains:SM00209,Superfamily_domains:SSF82895	ADAM metallopeptidase with thrombospondin type 1		T:0		ENSP00000373472	T:0.001	18/24	7.47E-05			0.000454		0.000127			rs565586720,COSM701710	18/24	common_variant		ENST00000388820	Transcript		T:0.0002	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000136378	g.chr15:79059849C>T	223			MODERATE		0.72	neutral	getma.org/?cm=msa&ty=f&p=ATS7_HUMAN&rb=881&re=940&var=V911M	NA	getma.org/?cm=var&var=hg19,15,79059849,C,T&fts=all	V911M	--	--	1																																		ADAMTS7_uc010und.1_Intron	0,1	1		benign(0.104)	p.V911M	NM_014272	NP_055087	T:0	tolerated(0.11)	0,1	ATS7_HUMAN	ADAMTS7	HGNC	Q9UKP4	ATS7_HUMAN					18	2942	-			UPI00002263B3	911			TSP type-1 3.		SNV	ADAMTS7,missense_variant,p.Val911Met,ENST00000388820,NM_014272.3;ADAMTS7,intron_variant,,ENST00000566303,;ADAMTS7,downstream_gene_variant,,ENST00000565793,;ADAMTS7,downstream_gene_variant,,ENST00000568712,;ADAMTS7,upstream_gene_variant,,ENST00000569934,;	uc002bej.3	c.2731G>A	2942/5490	2	2			c.2731G>A						15	SNP	c.(2731-2733)GTG>ATG	21	21				0	Broad	ADAM metallopeptidase with thrombospondin type 1			79059849		0.706	ENSG00000136378	270	g.chr15:79059849C>T	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding							25.500427	KEEP	4	5	-1	4	5	4	5	-1	25.500427	4	5	0.5	1	0	0	0	0	1	0	0	0	--	--		0	T			ADAMTS7_uc010und.1_Intron	253	GBM-41-2575-TP	p.V911M	C	TCCAGCCCCACGCTGCGGATG	NM_014272	NP_055087	79059849	Q9UKP4	ATS7_HUMAN	0			18	2942	-	T	T			Missense_Mutation	911			TSP type-1 3.			
ADAMTS7	11173		GRCh37	15	79067005	79067005	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000388820.4:c.1837A>G	p.Lys613Glu	p.K613E	ENST00000388820	NM_014272.3	613	Aag/Gag	0																																																																																																																																																																																																																																												
ADAMTS7	11173		GRCh37	15	79057006	79057006	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000388820.4:c.4310G>A	p.Arg1437His	p.R1437H	ENST00000388820	NM_014272.3	1437	cGc/cAc	0																																																																																																																																																																																																																																												
ADAMTS8	11095	broad.mit.edu	GRCh37	11	130281492	130281492	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0648-01	TCGA-06-0648-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257359.6:c.1570G>A	p.Val524Met	p.V524M	ENST00000257359	NM_007037.4	524	Gtg/Atg	0	T:0.0002	T:0	1	T:0		T	V/M	uc001qgg.3	protein_coding	YES	CCDS41732.1			1570/2670									central_nervous_system(1)	1	c.(1570-1572)GTG>ATG			hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF41	ADAM metallopeptidase with thrombospondin type 1		T:0.001	T:0	ENSP00000257359	T:0	9-Jun	7.44E-05			0.000813		1.51E-05	0.00112		rs371697073,COSM2151409,COSM318558,COSM318557	9-Jun	common_variant		ENST00000257359	Transcript		T:0.0002	negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	ENSG00000134917	g.chr11:130281492C>T	224			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=ATS8_HUMAN&rb=438&re=525&var=V524M	NA	getma.org/?cm=var&var=hg19,11,130281492,C,T&fts=all	V524M	--	--	1																																		ADAMTS8_uc001qgf.2_Missense_Mutation_p.V5M	0,1,1,1	1		benign(0.02)	p.V524M	NM_007037	NP_008968	T:0	tolerated(0.13)	0,1,1,1	ATS8_HUMAN	ADAMTS8	HGNC	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)			6	1928	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	UPI000013CF5D	524			Disintegrin.		SNV	ADAMTS8,missense_variant,p.Val524Met,ENST00000257359,NM_007037.4;ADAMTS8,non_coding_transcript_exon_variant,,ENST00000531752,;	uc001qgg.3	c.1570G>A	2277/4010	2	2			c.1570G>A						11	SNP	c.(1570-1572)GTG>ATG	32	32			central_nervous_system(1)	1	Broad	ADAM metallopeptidase with thrombospondin type 1			130281492		0.577	ENSG00000134917	271	g.chr11:130281492C>T	negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding							123.7176	KEEP	23	21	-1	16	38	23	21	-1	123.879308	16	38	0.453488	1	0	0	0	0	1	0	0	0	--	--		0	T			ADAMTS8_uc001qgf.2_Missense_Mutation_p.V5M	61	GBM-06-0648-TP	p.V524M	C	CCATCTGCCACGGGCTGCAAC	NM_007037	NP_008968	130281492	Q9UP79	ATS8_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	6	1928	-	T	T	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	Missense_Mutation	524			Disintegrin.			
ADAMTS8	0	broad.mit.edu	GRCh37	11	130281492	130281492	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1825-01	TCGA-14-1825-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257359.6:c.1570G>A	p.Val524Met	p.V524M	ENST00000257359	NM_007037.4	524	Gtg/Atg	0	T:0.0002	T:0	1	T:0		T	V/M	uc001qgg.3	protein_coding	YES	CCDS41732.1			1570/2670									central_nervous_system(1)	1	c.(1570-1572)GTG>ATG			hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF41	ADAM metallopeptidase with thrombospondin type 1		T:0.001	T:0	ENSP00000257359	T:0	9-Jun	7.44E-05			0.000813		1.51E-05	0.00112		rs371697073,COSM2151409,COSM318558,COSM318557	9-Jun	common_variant		ENST00000257359	Transcript		T:0.0002	negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	ENSG00000134917	g.chr11:130281492C>T	224			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=ATS8_HUMAN&rb=438&re=525&var=V524M	NA	getma.org/?cm=var&var=hg19,11,130281492,C,T&fts=all	V524M	--	--	1																																		ADAMTS8_uc001qgf.2_Missense_Mutation_p.V5M	0,1,1,1	1		benign(0.02)	p.V524M	NM_007037	NP_008968	T:0	tolerated(0.13)	0,1,1,1	ATS8_HUMAN	ADAMTS8	HGNC	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)			6	1928	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	UPI000013CF5D	524			Disintegrin.		SNV	ADAMTS8,missense_variant,p.Val524Met,ENST00000257359,NM_007037.4;ADAMTS8,non_coding_transcript_exon_variant,,ENST00000531752,;	uc001qgg.3	c.1570G>A	2277/4010	2	2			c.1570G>A						11	SNP	c.(1570-1572)GTG>ATG	32	32			central_nervous_system(1)	1	Broad	ADAM metallopeptidase with thrombospondin type 1			130281492		0.577	ENSG00000134917	271	g.chr11:130281492C>T	negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding							82.077929	KEEP	13	15	-1	24	35	13	15	-1	83.553133	24	35	0.35443	1	0	0	0	0	1	0	0	0	--	--		0	T			ADAMTS8_uc001qgf.2_Missense_Mutation_p.V5M	148	GBM-14-1825-TP	p.V524M	C	CCATCTGCCACGGGCTGCAAC	NM_007037	NP_008968	130281492	Q9UP79	ATS8_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	6	1928	-	T	T	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	Missense_Mutation	524			Disintegrin.			
ADAMTS8	0	broad.mit.edu	GRCh37	11	130284455	130284455	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-4926-01	TCGA-76-4926-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257359.6:c.1537C>G	p.Leu513Val	p.L513V	ENST00000257359	NM_007037.4	513	Cta/Gta	0			1			C	L/V	uc001qgg.3	protein_coding	YES	CCDS41732.1			1537/2670									central_nervous_system(1)	1	c.(1537-1539)CTA>GTA			hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF41,SMART_domains:SM00608	ADAM metallopeptidase with thrombospondin type 1				ENSP00000257359		9-May									COSM3397567,COSM3397565,COSM3397566	9-May	.		ENST00000257359	Transcript			negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	ENSG00000134917	g.chr11:130284455G>C	224			MODERATE		-0.52	neutral	getma.org/?cm=msa&ty=f&p=ATS8_HUMAN&rb=438&re=525&var=L513V	getma.org/pdb.php?prot=ATS8_HUMAN&from=438&to=525&var=L513V	getma.org/?cm=var&var=hg19,11,130284455,G,C&fts=all	L513V	--	--	1																																		ADAMTS8_uc001qgf.2_5'Flank	1,1,1	1		benign(0)	p.L513V	NM_007037	NP_008968		tolerated(1)	1,1,1	ATS8_HUMAN	ADAMTS8	HGNC	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)			5	1895	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	UPI000013CF5D	513			Disintegrin.		SNV	ADAMTS8,missense_variant,p.Leu513Val,ENST00000257359,NM_007037.4;ADAMTS8,upstream_gene_variant,,ENST00000531752,;	uc001qgg.3	c.1537C>G	2244/4010	4	4			c.1537C>G						11	SNP	c.(1537-1539)CTA>GTA	33	33			central_nervous_system(1)	1	Broad	ADAM metallopeptidase with thrombospondin type 1			130284455		0.637	ENSG00000134917	271	g.chr11:130284455G>C	negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding							-37.631343	KEEP	3	0	-1	94	95	3	0	-1	6.399728	94	95	0.017857	1	0	0	0	0	1	0	0	0	--	--		0	C			ADAMTS8_uc001qgf.2_5'Flank	266	GBM-76-4926-TP	p.L513V	G	TCCTCAGGTAGACAGCTGCCT	NM_007037	NP_008968	130284455	Q9UP79	ATS8_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	5	1895	-	C	C	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	Missense_Mutation	513			Disintegrin.			
ADAMTS9	0	broad.mit.edu	GRCh37	3	64527058	64527058	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000498707.1:c.5325C>T	p.Pro1775=	p.P1775=	ENST00000498707	NM_182920.1	1775	ccC/ccT	0			1			A	P	uc003dmg.2	protein_coding	YES	CCDS2903.1			5325/5808									ovary(2)|urinary_tract(1)|skin(1)	4	c.(5323-5325)CCC>CCT			PROSITE_profiles:PS51046,hmmpanther:PTHR13723:SF33,hmmpanther:PTHR13723,Pfam_domain:PF08685	ADAM metallopeptidase with thrombospondin type 1				ENSP00000418735		35/40									COSM2157488	35/40	.		ENST00000498707	Transcript			glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000163638	g.chr3:64527058G>A	13202			LOW								--	--	1																																		ADAMTS9_uc011bfo.1_Silent_p.P1747P|ADAMTS9_uc011bfp.1_Silent_p.P686P	1	1			p.P1775P	NM_182920	NP_891550			1	ATS9_HUMAN	ADAMTS9	HGNC	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	B4E0E4_HUMAN		35	5357	-		Lung NSC(201;0.00682)	UPI00000463F0	1775			GON.		SNV	ADAMTS9,synonymous_variant,p.=,ENST00000498707,NM_182920.1;ADAMTS9,synonymous_variant,p.=,ENST00000295903,;ADAMTS9,synonymous_variant,p.=,ENST00000481060,;	uc003dmg.2	c.5325C>T	5668/7464	2	2			c.5325C>T						3	SNP	c.(5323-5325)CCC>CCT	28	28			ovary(2)|urinary_tract(1)|skin(1)	4	Broad	ADAM metallopeptidase with thrombospondin type 1			64527058		0.502	ENSG00000163638	272	g.chr3:64527058G>A	glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding							488.815196	KEEP	91	72	-1	90	117	91	72	-1	489.52676	90	117	0.45045	1	0	0	0	0	0	0	1	0	--	--		0	A			ADAMTS9_uc011bfo.1_Silent_p.P1747P|ADAMTS9_uc011bfp.1_Silent_p.P686P	265	GBM-76-4925-TP	p.P1775P	G	CGTACTCTTTGGGGTGGTCAG	NM_182920	NP_891550	64527058	Q9P2N4	ATS9_HUMAN	0		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	35	5357	-	A	A		Lung NSC(201;0.00682)	Silent	1775			GON.			
ADAMTSL1	0	broad.mit.edu	GRCh37	9	18777209	18777209	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-14-0813-01	TCGA-14-0813-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380548.4:c.2982C>G	p.Thr994=	p.T994=	ENST00000380548	NM_001040272.5	994	acC/acG	0			1			G	T	uc003zne.3	protein_coding	YES	CCDS47954.1			2982/5289									ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5	c.(2980-2982)ACC>ACG			hmmpanther:PTHR13723:SF157,hmmpanther:PTHR13723	ADAMTS-like 1 isoform 4 precursor				ENSP00000369921		19/29									COSM2154767	19/29	.		ENST00000380548	Transcript				proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	ENSG00000178031	g.chr9:18777209C>G	14632			LOW								--	--	1																																			1	1			p.T994T	NM_001040272	NP_001035362			1	ATL1_HUMAN	ADAMTSL1	HGNC	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	H7BYE3_HUMAN		19	3109	+			UPI000004FD83	994					SNV	ADAMTSL1,synonymous_variant,p.=,ENST00000380548,NM_001040272.5;ADAMTSL1,non_coding_transcript_exon_variant,,ENST00000380559,;	uc003zne.3	c.2982C>G	3321/8030	3	3			c.2982C>G						9	SNP	c.(2980-2982)ACC>ACG	64	64			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5	Broad	ADAMTS-like 1 isoform 4 precursor			18777209		0.687	ENSG00000178031	273	g.chr9:18777209C>G		proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding							68.405363	KEEP	10	13	-1	4	10	10	13	-1	68.843707	4	10	0.625	1	0	0	0	0	0	0	1	0	--	--		0	G				138	GBM-14-0813-TP	p.T994T	C	CCCTGCAGACCCACAAACACC	NM_001040272	NP_001035362	18777209	Q8N6G6	ATL1_HUMAN	0		GBM - Glioblastoma multiforme(50;1.29e-17)	19	3109	+	G	G			Silent	994						
ADAMTSL1	0	broad.mit.edu	GRCh37	9	18777555	18777555	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5215-01	TCGA-28-5215-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380548.4:c.3328C>T	p.Arg1110Cys	p.R1110C	ENST00000380548	NM_001040272.5	1110	Cgc/Tgc	0			1			T	R/C	uc003zne.3	protein_coding	YES	CCDS47954.1			3328/5289									ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5	c.(3328-3330)CGC>TGC			hmmpanther:PTHR13723:SF157,hmmpanther:PTHR13723	ADAMTS-like 1 isoform 4 precursor				ENSP00000369921		19/29									COSM3413545	19/29	.		ENST00000380548	Transcript				proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	ENSG00000178031	g.chr9:18777555C>T	14632			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=ATL1_HUMAN&rb=955&re=1154&var=R1110C	NA	getma.org/?cm=var&var=hg19,9,18777555,C,T&fts=all	R1110C	--	--	1																																			1	1		possibly_damaging(0.696)	p.R1110C	NM_001040272	NP_001035362		deleterious(0)	1	ATL1_HUMAN	ADAMTSL1	HGNC	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	H7BYE3_HUMAN		19	3455	+			UPI000004FD83	1110					SNV	ADAMTSL1,missense_variant,p.Arg1110Cys,ENST00000380548,NM_001040272.5;ADAMTSL1,non_coding_transcript_exon_variant,,ENST00000380559,;	uc003zne.3	c.3328C>T	3667/8030	2	2			c.3328C>T						9	SNP	c.(3328-3330)CGC>TGC	33	33			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5	Broad	ADAMTS-like 1 isoform 4 precursor			18777555		0.647	ENSG00000178031	273	g.chr9:18777555C>T		proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding							22.160414	KEEP	3	6	-1	9	14	3	6	-1	23.383135	9	14	0.290323	1	0	0	0	0	1	0	0	0	--	--		0	T				222	GBM-28-5215-TP	p.R1110C	C	GGAGATCTTCCGCAGCCACCT	NM_001040272	NP_001035362	18777555	Q8N6G6	ATL1_HUMAN	0		GBM - Glioblastoma multiforme(50;1.29e-17)	19	3455	+	T	T			Missense_Mutation	1110						
ADAMTSL1	0	broad.mit.edu	GRCh37	9	18777020	18777020	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-32-2491-01	TCGA-32-2491-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380548.4:c.2793T>C	p.Tyr931=	p.Y931=	ENST00000380548	NM_001040272.5	931	taT/taC	0			1			C	Y	uc003zne.3	protein_coding	YES	CCDS47954.1			2793/5289									ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5	c.(2791-2793)TAT>TAC			PROSITE_profiles:PS50835,hmmpanther:PTHR13723:SF157,hmmpanther:PTHR13723,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	ADAMTS-like 1 isoform 4 precursor				ENSP00000369921		19/29									COSM3413544	19/29	.		ENST00000380548	Transcript				proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	ENSG00000178031	g.chr9:18777020T>C	14632			LOW								--	--	1																																			1	1			p.Y931Y	NM_001040272	NP_001035362			1	ATL1_HUMAN	ADAMTSL1	HGNC	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	H7BYE3_HUMAN		19	2920	+			UPI000004FD83	931			Ig-like C2-type 1.		SNV	ADAMTSL1,synonymous_variant,p.=,ENST00000380548,NM_001040272.5;ADAMTSL1,non_coding_transcript_exon_variant,,ENST00000380559,;	uc003zne.3	c.2793T>C	3132/8030	3	3			c.2793T>C						9	SNP	c.(2791-2793)TAT>TAC	58	58			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5	Broad	ADAMTS-like 1 isoform 4 precursor			18777020		0.662	ENSG00000178031	273	g.chr9:18777020T>C		proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding							92.457255	KEEP	16	20	-1	28	32	16	20	-1	93.582527	28	32	0.371795	1	0	0	0	0	0	0	1	0	--	--		0	C				235	GBM-32-2491-TP	p.Y931Y	T	CCTTCGGCTATCTCAAGATCC	NM_001040272	NP_001035362	18777020	Q8N6G6	ATL1_HUMAN	0		GBM - Glioblastoma multiforme(50;1.29e-17)	19	2920	+	C	C			Silent	931			Ig-like C2-type 1.			
ADAMTSL3	57188		GRCh37	15	84659966	84659966	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000286744.5:c.3973G>T	p.Gly1325Cys	p.G1325C	ENST00000286744	NM_207517.2	1325	Ggt/Tgt	0																																																																																																																																																																																																																																												
ADAMTSL4	54507	broad.mit.edu	GRCh37	1	150530514	150530514	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-06-0154-01	TCGA-06-0154-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271643.4:c.2271T>G	p.Gly757=	p.G757=	ENST00000271643	NM_019032.4	757	ggT/ggG	0			1			G	G	uc001eux.2	protein_coding	YES	CCDS955.1			2271/3225									ovary(1)|skin(1)	2	c.(2269-2271)GGT>GGG			PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF144,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895	thrombospondin repeat containing 1 isoform 1				ENSP00000271643		14/19									COSM3747787,COSM3747788	14/19	.		ENST00000271643	Transcript	1		apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	ENSG00000143382	g.chr1:150530514T>G	19706			LOW								--	--	1																																		ADAMTSL4_uc001euw.2_Silent_p.G757G|ADAMTSL4_uc009wlw.2_Silent_p.G780G|ADAMTSL4_uc010pcg.1_Silent_p.G718G|ADAMTSL4_uc009wlx.2_5'UTR	1,1	1			p.G757G	NM_019032	NP_061905			1,1	ATL4_HUMAN	ADAMTSL4	HGNC	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		Q9UFG7_HUMAN,A8KAH2_HUMAN		14	2507	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UPI00001E0572	757			TSP type-1 2.		SNV	ADAMTSL4,synonymous_variant,p.=,ENST00000271643,NM_019032.4;ADAMTSL4,synonymous_variant,p.=,ENST00000369038,;ADAMTSL4,synonymous_variant,p.=,ENST00000369039,NM_001288608.1;ADAMTSL4,synonymous_variant,p.=,ENST00000369041,NM_025008.3;ADAMTSL4-AS1,downstream_gene_variant,,ENST00000369035,;RP11-54A4.2,upstream_gene_variant,,ENST00000442435,;ADAMTSL4,upstream_gene_variant,,ENST00000489159,;	uc001eux.2	c.2271T>G	2507/4197	3	3			c.2271T>G						1	SNP	c.(2269-2271)GGT>GGG	7	7			ovary(1)|skin(1)	2	Broad	thrombospondin repeat containing 1 isoform 1			150530514		0.692	ENSG00000143382	276	g.chr1:150530514T>G	apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding							-17.164183	KEEP	22	28	-1	80	79	22	28	-1	6.455519	80	79	0.067227	1	0	0	0	0	0	0	1	0	--	--		0	G			ADAMTSL4_uc001euw.2_Silent_p.G757G|ADAMTSL4_uc009wlw.2_Silent_p.G780G|ADAMTSL4_uc010pcg.1_Silent_p.G718G|ADAMTSL4_uc009wlx.2_5'UTR	26	GBM-06-0154-TP	p.G757G	T	TTGGGGGGGGTGGCTCCTCGG	NM_019032	NP_061905	150530514	Q6UY14	ATL4_HUMAN	0	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		14	2507	+	G	G	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		Silent	757			TSP type-1 2.			
ADAMTSL4	54507		GRCh37	1	150530495	150530495	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000271643.4:c.2252G>A	p.Arg751Gln	p.R751Q	ENST00000271643	NM_019032.4	751	cGg/cAg	0																																																																																																																																																																																																																																												
ADAP1	0	broad.mit.edu	GRCh37	7	959664	959664	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01	TCGA-16-1045-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265846.5:c.329G>A	p.Arg110Gln	p.R110Q	ENST00000265846	NM_006869.2	110	cGg/cAg	0	T:0	T:0.0008	1	T:0		T	R/Q	uc003sjo.3	protein_coding	YES	CCDS5318.1			329/1125								p.R110Q(1)	upper_aerodigestive_tract(1)	1	c.(328-330)CGG>CAG			Superfamily_domains:SSF57863,SMART_domains:SM00105,Pfam_domain:PF01412,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF219,PROSITE_profiles:PS50115	centaurin, alpha 1		T:0	T:0.0001	ENSP00000265846	T:0	11-Apr	5.78E-05	0.000108		0.000245		4.87E-05	0.00126		rs373846581,COSM97933,COSM3412520	11-Apr	.		ENST00000265846	Transcript		T:0.0002	cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding	ENSG00000105963	g.chr7:959664C>T	16486			MODERATE		2.49	medium	getma.org/?cm=msa&ty=f&p=ADAP1_HUMAN&rb=6&re=122&var=R110Q	getma.org/pdb.php?prot=ADAP1_HUMAN&from=6&to=122&var=R110Q	getma.org/?cm=var&var=hg19,7,959664,C,T&fts=all	R110Q	--	--	1																																		ADAP1_uc011jvs.1_Missense_Mutation_p.R15Q|ADAP1_uc003sjn.3_Missense_Mutation_p.R38Q|ADAP1_uc010ksc.2_Missense_Mutation_p.R38Q	0,1,1	1		probably_damaging(0.95)	p.R110Q	NM_006869	NP_006860	T:0	deleterious(0)	0,1,1	ADAP1_HUMAN	ADAP1	HGNC	O75689	ADAP1_HUMAN			H7C2Q4_HUMAN		4	505	-			UPI000013D694	110			Arf-GAP.		SNV	ADAP1,missense_variant,p.Arg110Gln,ENST00000265846,NM_006869.2,NM_001284311.1;ADAP1,missense_variant,p.Arg93Gln,ENST00000446141,;ADAP1,missense_variant,p.Arg38Gln,ENST00000449296,NM_001284309.1,NM_001284310.1;ADAP1,missense_variant,p.Arg121Gln,ENST00000539900,NM_001284308.1;ADAP1,missense_variant,p.Arg44Gln,ENST00000437486,;ADAP1,missense_variant,p.Arg51Gln,ENST00000454383,;ADAP1,missense_variant,p.Arg53Gln,ENST00000453823,;ADAP1,missense_variant,p.Arg97Gln,ENST00000435943,;ADAP1,non_coding_transcript_exon_variant,,ENST00000463358,;ADAP1,non_coding_transcript_exon_variant,,ENST00000488527,;ADAP1,non_coding_transcript_exon_variant,,ENST00000477906,;COX19,3_prime_UTR_variant,,ENST00000457254,;ADAP1,non_coding_transcript_exon_variant,,ENST00000495686,;	uc003sjo.3	c.329G>A	549/2363	1	1			c.329G>A						7	SNP	c.(328-330)CGG>CAG	7	7		p.R110Q(1)	upper_aerodigestive_tract(1)	1	Broad	centaurin, alpha 1			959664		0.682	ENSG00000105963	278	g.chr7:959664C>T	cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding							3.87465	KEEP	1	4	-1	18	21	1	4	-1	10.01031	18	21	0.102564	1	0	0	0	0	1	0	0	0	--	--		0	T			ADAP1_uc011jvs.1_Missense_Mutation_p.R15Q|ADAP1_uc003sjn.3_Missense_Mutation_p.R38Q|ADAP1_uc010ksc.2_Missense_Mutation_p.R38Q	157	GBM-16-1045-TP	p.R110Q	C	GTACTTGGCCCGGATCCACTG	NM_006869	NP_006860	959664	O75689	ADAP1_HUMAN	0			4	505	-	T	T			Missense_Mutation	110			Arf-GAP.			
ADAP1	0	broad.mit.edu	GRCh37	7	943765	943765	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-4208-01	TCGA-32-4208-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265846.5:c.646A>G	p.Lys216Glu	p.K216E	ENST00000265846	NM_006869.2	216	Aag/Gag	0			1			C	K/E	uc003sjo.3	protein_coding	YES	CCDS5318.1			646/1125									upper_aerodigestive_tract(1)	1	c.(646-648)AAG>GAG			Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF219,PROSITE_profiles:PS50003	centaurin, alpha 1				ENSP00000265846		11-Jun									COSM3412509,COSM3412510	11-Jun	.		ENST00000265846	Transcript			cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding	ENSG00000105963	g.chr7:943765T>C	16486			MODERATE		1.775	low	getma.org/?cm=msa&ty=f&p=ADAP1_HUMAN&rb=129&re=230&var=K216E	getma.org/pdb.php?prot=ADAP1_HUMAN&from=129&to=230&var=K216E	getma.org/?cm=var&var=hg19,7,943765,T,C&fts=all	K216E	--	--	1																																		ADAP1_uc003sjm.3_Missense_Mutation_p.K42E|ADAP1_uc011jvs.1_Missense_Mutation_p.K121E|ADAP1_uc003sjn.3_Missense_Mutation_p.K144E|ADAP1_uc010ksc.2_Missense_Mutation_p.K144E	1,1	1		possibly_damaging(0.688)	p.K216E	NM_006869	NP_006860		tolerated(0.19)	1,1	ADAP1_HUMAN	ADAP1	HGNC	O75689	ADAP1_HUMAN			H7C2Q4_HUMAN		6	822	-			UPI000013D694	216			PH 1.		SNV	ADAP1,missense_variant,p.Lys216Glu,ENST00000265846,NM_006869.2,NM_001284311.1;ADAP1,missense_variant,p.Lys144Glu,ENST00000449296,NM_001284309.1,NM_001284310.1;ADAP1,missense_variant,p.Lys199Glu,ENST00000446141,;ADAP1,missense_variant,p.Lys227Glu,ENST00000539900,NM_001284308.1;ADAP1,missense_variant,p.Lys55Glu,ENST00000453175,;ADAP1,missense_variant,p.Lys150Glu,ENST00000437486,;ADAP1,missense_variant,p.Lys157Glu,ENST00000454383,;ADAP1,missense_variant,p.Lys159Glu,ENST00000453823,;ADAP1,downstream_gene_variant,,ENST00000435943,;ADAP1,downstream_gene_variant,,ENST00000463358,;ADAP1,downstream_gene_variant,,ENST00000488527,;ADAP1,downstream_gene_variant,,ENST00000477906,;ADAP1,splice_region_variant,,ENST00000478000,;COX19,splice_region_variant,,ENST00000457254,;ADAP1,non_coding_transcript_exon_variant,,ENST00000481406,;ADAP1,upstream_gene_variant,,ENST00000495809,;	uc003sjo.3	c.646A>G	866/2363	3	3			c.646A>G						7	SNP	c.(646-648)AAG>GAG	6	6			upper_aerodigestive_tract(1)	1	Broad	centaurin, alpha 1			943765		0.672	ENSG00000105963	278	g.chr7:943765T>C	cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding							-16.237238	KEEP	3	0	-1	41	80	3	0	-1	7.122748	41	80	0.030928	1	0	0	0	0	1	0	0	0	--	--		0	C			ADAP1_uc003sjm.3_Missense_Mutation_p.K42E|ADAP1_uc011jvs.1_Missense_Mutation_p.K121E|ADAP1_uc003sjn.3_Missense_Mutation_p.K144E|ADAP1_uc010ksc.2_Missense_Mutation_p.K144E	243	GBM-32-4208-TP	p.K216E	T	GCACCCACCTTCCCGTCCTCA	NM_006869	NP_006860	943765	O75689	ADAP1_HUMAN	0			6	822	-	C	C			Missense_Mutation	216			PH 1.			
ADARB2	105	broad.mit.edu	GRCh37	10	1405297	1405297	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-0033-01	TCGA-02-0033-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381312.1:c.1003G>A	p.Ala335Thr	p.A335T	ENST00000381312	NM_018702.3	335	Gca/Aca	0			1			T	A/T	uc009xhq.2	protein_coding	YES	CCDS7058.1			1003/2220									large_intestine(2)|central_nervous_system(1)	3	c.(1003-1005)GCA>ACA			Low_complexity_(Seg):seg,PROSITE_profiles:PS50137,hmmpanther:PTHR10910:SF17,hmmpanther:PTHR10910,Pfam_domain:PF00035,Gene3D:3.30.160.20,SMART_domains:SM00358,Superfamily_domains:SSF54768	adenosine deaminase, RNA-specific, B2				ENSP00000370713		10-Mar									COSM2148943	10-Mar	.		ENST00000381312	Transcript			mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	ENSG00000185736	g.chr10:1405297C>T	227			MODERATE		2.615	medium	getma.org/?cm=msa&ty=f&p=RED2_HUMAN&rb=282&re=339&var=A335T	getma.org/pdb.php?prot=RED2_HUMAN&from=282&to=339&var=A335T	getma.org/?cm=var&var=hg19,10,1405297,C,T&fts=all	A335T	--	--	1																																			1	1		probably_damaging(0.999)	p.A335T	NM_018702	NP_061172		deleterious(0.02)	1	RED2_HUMAN	ADARB2	HGNC	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	Q5VW43_HUMAN		3	1377	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	UPI0000071776	335			DRBM 2.		SNV	ADARB2,missense_variant,p.Ala335Thr,ENST00000381312,NM_018702.3;RP11-398B16.2,upstream_gene_variant,,ENST00000432987,;	uc009xhq.2	c.1003G>A	1329/3606	1	1			c.1003G>A						10	SNP	c.(1003-1005)GCA>ACA	4	4			large_intestine(2)|central_nervous_system(1)	3	Broad	adenosine deaminase, RNA-specific, B2			1405297		0.746	ENSG00000185736	282	g.chr10:1405297C>T	mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			191			191	15.072982	KEEP	3	3	-1	7	2	3	3	-1	15.145704	7	2	0.416667	1	0	0	0	0	1	0	0	0	--	--		0	T				2	GBM-02-0033-TP	p.A335T	C	TCCTGCAGTGCGGCCTGCGCG	NM_018702	NP_061172	1405297	Q9NS39	RED2_HUMAN	0		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	3	1377	-	T	T		all_epithelial(10;0.059)|Colorectal(49;0.0815)	Missense_Mutation	335			DRBM 2.			
ADARB2	105	broad.mit.edu	GRCh37	10	1284215	1284215	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5418-01	TCGA-06-5418-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381312.1:c.1340C>T	p.Thr447Met	p.T447M	ENST00000381312	NM_018702.3	447	aCg/aTg	0			1			A	T/M	uc009xhq.2	protein_coding	YES	CCDS7058.1			1340/2220									large_intestine(2)|central_nervous_system(1)	3	c.(1339-1341)ACG>ATG			PROSITE_profiles:PS50141,hmmpanther:PTHR10910:SF17,hmmpanther:PTHR10910,Pfam_domain:PF02137,SMART_domains:SM00552	adenosine deaminase, RNA-specific, B2				ENSP00000370713		10-May	9.92E-05				0.000583	0.000149		0.000142	rs758570790,COSM1181980	10-May	common_variant		ENST00000381312	Transcript			mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	ENSG00000185736	g.chr10:1284215G>A	227			MODERATE		1.28	low	getma.org/?cm=msa&ty=f&p=RED2_HUMAN&rb=408&re=731&var=T447M	getma.org/pdb.php?prot=RED2_HUMAN&from=408&to=731&var=T447M	getma.org/?cm=var&var=hg19,10,1284215,G,A&fts=all	T447M	--	--	1																																			0,1	1		possibly_damaging(0.672)	p.T447M	NM_018702	NP_061172		deleterious(0.02)	0,1	RED2_HUMAN	ADARB2	HGNC	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	Q5VW43_HUMAN		5	1714	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	UPI0000071776	447			A to I editase.		SNV	ADARB2,missense_variant,p.Thr447Met,ENST00000381312,NM_018702.3;ADARB2,upstream_gene_variant,,ENST00000469464,;	uc009xhq.2	c.1340C>T	1666/3606	1	1			c.1340C>T						10	SNP	c.(1339-1341)ACG>ATG	56	56			large_intestine(2)|central_nervous_system(1)	3	Broad	adenosine deaminase, RNA-specific, B2			1284215		0.701	ENSG00000185736	282	g.chr10:1284215G>A	mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			191			191	18.952565	KEEP	5	3	-1	0	3	5	3	-1	19.174032	0	3	0.666667	1	0	0	0	0	1	0	0	0	--	--		0	A				100	GBM-06-5418-TP	p.T447M	G	CTCCAGCTGCGTGTAGAGGAA	NM_018702	NP_061172	1284215	Q9NS39	RED2_HUMAN	0		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	5	1714	-	A	A		all_epithelial(10;0.059)|Colorectal(49;0.0815)	Missense_Mutation	447			A to I editase.			
ADARB2	0	broad.mit.edu	GRCh37	10	1284235	1284235	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6695-01	TCGA-06-6695-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381312.1:c.1320G>A	p.Ala440=	p.A440=	ENST00000381312	NM_018702.3	440	gcG/gcA	0			1			T	A	uc009xhq.2	protein_coding	YES	CCDS7058.1			1320/2220									large_intestine(2)|central_nervous_system(1)	3	c.(1318-1320)GCG>GCA			PROSITE_profiles:PS50141,hmmpanther:PTHR10910:SF17,hmmpanther:PTHR10910,Pfam_domain:PF02137,SMART_domains:SM00552	adenosine deaminase, RNA-specific, B2				ENSP00000370713		10-May	8.27E-06			0.000141					rs777332641,COSM3396981	10-May	.		ENST00000381312	Transcript			mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	ENSG00000185736	g.chr10:1284235C>T	227			LOW								--	--	1																																			0,1	1			p.A440A	NM_018702	NP_061172			0,1	RED2_HUMAN	ADARB2	HGNC	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	Q5VW43_HUMAN		5	1694	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	UPI0000071776	440			A to I editase.		SNV	ADARB2,synonymous_variant,p.=,ENST00000381312,NM_018702.3;ADARB2,upstream_gene_variant,,ENST00000469464,;	uc009xhq.2	c.1320G>A	1646/3606	2	2			c.1320G>A						10	SNP	c.(1318-1320)GCG>GCA	41	41			large_intestine(2)|central_nervous_system(1)	3	Broad	adenosine deaminase, RNA-specific, B2			1284235		0.706	ENSG00000185736	282	g.chr10:1284235C>T	mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			191			191	18.484117	KEEP	4	4	-1	4	3	4	4	-1	18.510559	4	3	0.538462	1	0	0	0	0	0	0	1	0	--	--		0	T				110	GBM-06-6695-TP	p.A440A	C	AGTGCAGGAACGCCCGCCGGG	NM_018702	NP_061172	1284235	Q9NS39	RED2_HUMAN	0		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	5	1694	-	T	T		all_epithelial(10;0.059)|Colorectal(49;0.0815)	Silent	440			A to I editase.			
ADARB2	0	broad.mit.edu	GRCh37	10	1262895	1262895	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs142663256	byFrequency	TCGA-27-1838-01	TCGA-27-1838-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381312.1:c.1678G>A	p.Ala560Thr	p.A560T	ENST00000381312	NM_018702.3	560	Gcc/Acc	0	T:0.0075	T:0.0136	1	T:0		T	A/T	uc009xhq.2	protein_coding	YES	CCDS7058.1			1678/2220									large_intestine(2)|central_nervous_system(1)	3	c.(1678-1680)GCC>ACC			PROSITE_profiles:PS50141,hmmpanther:PTHR10910:SF17,hmmpanther:PTHR10910,Pfam_domain:PF02137,SMART_domains:SM00552	adenosine deaminase, RNA-specific, B2		T:0	T:0.0001	ENSP00000370713	T:0	10-Jul	0.000816	0.00895	0.000965	0.000127		6.71E-05		0.000139	rs142663256,COSM915814	10-Jul	common_variant		ENST00000381312	Transcript		T:0.0036	mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	ENSG00000185736	g.chr10:1262895C>T	227			MODERATE		1.18	low	getma.org/?cm=msa&ty=f&p=RED2_HUMAN&rb=408&re=731&var=A560T	getma.org/pdb.php?prot=RED2_HUMAN&from=408&to=731&var=A560T	getma.org/?cm=var&var=hg19,10,1262895,C,T&fts=all	A560T	--	--	1																																			0,1	1		benign(0.079)	p.A560T	NM_018702	NP_061172	T:0	tolerated(0.07)	0,1	RED2_HUMAN	ADARB2	HGNC	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	Q5VW43_HUMAN		7	2052	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	UPI0000071776	560			A to I editase.		SNV	ADARB2,missense_variant,p.Ala560Thr,ENST00000381312,NM_018702.3;ADARB2,non_coding_transcript_exon_variant,,ENST00000469464,;	uc009xhq.2	c.1678G>A	2004/3606	2	2			c.1678G>A						10	SNP	c.(1678-1680)GCC>ACC	33	33			large_intestine(2)|central_nervous_system(1)	3	Broad	adenosine deaminase, RNA-specific, B2			1262895		0.677	ENSG00000185736	282	g.chr10:1262895C>T	mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			191			191	48.168794	KEEP	9	10	-1	8	15	9	10	-1	48.174983	8	15	0.485714	1	0	0	0	0	1	0	0	0	--	--		0	T				197	GBM-27-1838-TP	p.A560T	C	CCTCACCTGGCGATCTTGTCC	NM_018702	NP_061172	1262895	Q9NS39	RED2_HUMAN	0		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	7	2052	-	T	T		all_epithelial(10;0.059)|Colorectal(49;0.0815)	Missense_Mutation	560			A to I editase.			
ADARB2	0	broad.mit.edu	GRCh37	10	1263025	1263025	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-3392-01	TCGA-41-3392-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381312.1:c.1548C>T	p.Arg516=	p.R516=	ENST00000381312	NM_018702.3	516	cgC/cgT	0			1			A	R	uc009xhq.2	protein_coding	YES	CCDS7058.1			1548/2220									large_intestine(2)|central_nervous_system(1)	3	c.(1546-1548)CGC>CGT			PROSITE_profiles:PS50141,hmmpanther:PTHR10910:SF17,hmmpanther:PTHR10910,Pfam_domain:PF02137,SMART_domains:SM00552	adenosine deaminase, RNA-specific, B2				ENSP00000370713		10-Jul	8.24E-06	0.000143							rs772506968,COSM3396971	10-Jul	.		ENST00000381312	Transcript			mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	ENSG00000185736	g.chr10:1263025G>A	227			LOW								--	--	1																																			0,1	1			p.R516R	NM_018702	NP_061172			0,1	RED2_HUMAN	ADARB2	HGNC	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	Q5VW43_HUMAN		7	1922	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	UPI0000071776	516			A to I editase.		SNV	ADARB2,synonymous_variant,p.=,ENST00000381312,NM_018702.3;ADARB2,non_coding_transcript_exon_variant,,ENST00000469464,;	uc009xhq.2	c.1548C>T	1874/3606	1	1			c.1548C>T						10	SNP	c.(1546-1548)CGC>CGT	50	50			large_intestine(2)|central_nervous_system(1)	3	Broad	adenosine deaminase, RNA-specific, B2			1263025		0.657	ENSG00000185736	282	g.chr10:1263025G>A	mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			191			191	26.242304	KEEP	1	9	-1	2	1	1	9	-1	27.272363	2	1	0.818182	1	0	0	0	0	0	0	1	0	--	--		0	A				254	GBM-41-3392-TP	p.R516R	G	GCAGGTGCCCGCGGAACTTCC	NM_018702	NP_061172	1263025	Q9NS39	RED2_HUMAN	0		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	7	1922	-	A	A		all_epithelial(10;0.059)|Colorectal(49;0.0815)	Silent	516			A to I editase.			
ADC	0	broad.mit.edu	GRCh37	1	33583680	33583681	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C			TCGA-26-1439-01	TCGA-26-1439-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294517.6:c.1209dupC	p.Cys404LeufsTer27	p.C404Lfs*27	ENST00000294517	NM_052998.2	403	gcc/gCcc	0			1			C	A/AX	uc001bwr.2	protein_coding	YES	CCDS375.1			1207-1208/1383									ovary(2)	2	c.(1207-1209)GCCfs			Gene3D:2.40.37.10,Pfam_domain:PF00278,hmmpanther:PTHR11482,hmmpanther:PTHR11482:SF4,Superfamily_domains:SSF50621	ODC antizyme inhibitor-2	L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)			ENSP00000294517		12-Nov										12-Nov	.		ENST00000294517	Transcript			polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	ENSG00000142920	g.chr1:33583680_33583681insC	29957	2		HIGH								--	--	1																																		ADC_uc001bws.2_Frame_Shift_Ins_p.A403fs|ADC_uc009vue.2_Frame_Shift_Ins_p.A403fs|ADC_uc001bwt.1_Frame_Shift_Ins_p.A308fs|ADC_uc001bwu.2_Frame_Shift_Ins_p.A308fs|ADC_uc001bwv.2_Frame_Shift_Ins_p.A308fs|ADC_uc001bww.2_Frame_Shift_Ins_p.A308fs|ADC_uc001bwx.1_Frame_Shift_Ins_p.A380fs|ADC_uc009vug.2_Frame_Shift_Ins_p.A423fs		1			p.A403fs	NM_052998	NP_443724				ADC_HUMAN	ADC	HGNC	Q96A70	ADC_HUMAN			D3DPR0_HUMAN,B3KV62_HUMAN		11	1794_1795	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	UPI0000047152	403					insertion	ADC,frameshift_variant,p.Cys404LeufsTer27,ENST00000294517,NM_052998.2;ADC,frameshift_variant,p.Cys424LeufsTer27,ENST00000398167,;ADC,frameshift_variant,p.Cys404LeufsTer27,ENST00000373443,;ADC,frameshift_variant,p.Cys424LeufsTer27,ENST00000373441,;ADC,non_coding_transcript_exon_variant,,ENST00000484656,;ADC,non_coding_transcript_exon_variant,,ENST00000475935,;ADC,non_coding_transcript_exon_variant,,ENST00000478204,;ADC,non_coding_transcript_exon_variant,,ENST00000481886,;ADC,non_coding_transcript_exon_variant,,ENST00000471119,;	uc001bwr.2	c.1207_1208insC	1794-1795/2182	5	5			c.1207_1208insC						1	INS	c.(1207-1209)GCCfs	64	64			ovary(2)	2	Broad	ODC antizyme inhibitor-2		L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	33583681		0.614	ENSG00000142920	286	g.chr1:33583680_33583681insC	polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity																				0.04	1	0	0	1	1	0	0	0	0	--	--		0	C			ADC_uc001bws.2_Frame_Shift_Ins_p.A403fs|ADC_uc009vue.2_Frame_Shift_Ins_p.A403fs|ADC_uc001bwt.1_Frame_Shift_Ins_p.A308fs|ADC_uc001bwu.2_Frame_Shift_Ins_p.A308fs|ADC_uc001bwv.2_Frame_Shift_Ins_p.A308fs|ADC_uc001bww.2_Frame_Shift_Ins_p.A308fs|ADC_uc001bwx.1_Frame_Shift_Ins_p.A380fs|ADC_uc009vug.2_Frame_Shift_Ins_p.A423fs	179	GBM-26-1439-TP	p.A403fs	-	GGGGACCCAGGCCTGCCACATC	NM_052998	NP_443724	33583680	Q96A70	ADC_HUMAN	0			11	1794_1795	+	C	C		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	Frame_Shift_Ins	403						
ADC	0	broad.mit.edu	GRCh37	1	33583641	33583641	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-28-6450-01	TCGA-28-6450-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294517.6:c.1168T>A	p.Tyr390Asn	p.Y390N	ENST00000294517	NM_052998.2	390	Tac/Aac	0			1			A	Y/N	uc001bwr.2	protein_coding	YES	CCDS375.1			1168/1383									ovary(2)	2	c.(1168-1170)TAC>AAC			Gene3D:2.40.37.10,Pfam_domain:PF00278,Prints_domain:PR01179,hmmpanther:PTHR11482,hmmpanther:PTHR11482:SF4,Superfamily_domains:SSF50621	ODC antizyme inhibitor-2	L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)			ENSP00000294517		12-Nov									COSM3400688,COSM3400689	12-Nov	.		ENST00000294517	Transcript			polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	ENSG00000142920	g.chr1:33583641T>A	29957			MODERATE		3.47	medium	getma.org/?cm=msa&ty=f&p=ADC_HUMAN&rb=286&re=409&var=Y390N	getma.org/pdb.php?prot=ADC_HUMAN&from=286&to=409&var=Y390N	getma.org/?cm=var&var=hg19,1,33583641,T,A&fts=all	Y390N	--	--	1																																		ADC_uc001bws.2_Missense_Mutation_p.Y390N|ADC_uc009vue.2_Missense_Mutation_p.Y390N|ADC_uc001bwt.1_Missense_Mutation_p.Y295N|ADC_uc001bwu.2_Missense_Mutation_p.Y295N|ADC_uc001bwv.2_Missense_Mutation_p.Y295N|ADC_uc001bww.2_Missense_Mutation_p.Y295N|ADC_uc001bwx.1_Missense_Mutation_p.Y367N|ADC_uc009vug.2_Missense_Mutation_p.Y410N	1,1	1		probably_damaging(0.981)	p.Y390N	NM_052998	NP_443724		tolerated(0.06)	1,1	ADC_HUMAN	ADC	HGNC	Q96A70	ADC_HUMAN			D3DPR0_HUMAN,B3KV62_HUMAN		11	1755	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	UPI0000047152	390					SNV	ADC,missense_variant,p.Tyr390Asn,ENST00000294517,NM_052998.2;ADC,missense_variant,p.Tyr410Asn,ENST00000398167,;ADC,missense_variant,p.Tyr390Asn,ENST00000373443,;ADC,missense_variant,p.Tyr410Asn,ENST00000373441,;ADC,non_coding_transcript_exon_variant,,ENST00000484656,;ADC,non_coding_transcript_exon_variant,,ENST00000475935,;ADC,non_coding_transcript_exon_variant,,ENST00000478204,;ADC,non_coding_transcript_exon_variant,,ENST00000481886,;ADC,non_coding_transcript_exon_variant,,ENST00000471119,;	uc001bwr.2	c.1168T>A	1755/2182	2	2			c.1168T>A						1	SNP	c.(1168-1170)TAC>AAC	17	17			ovary(2)	2	Broad	ODC antizyme inhibitor-2		L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	33583641		0.632	ENSG00000142920	286	g.chr1:33583641T>A	polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity							71.664433	KEEP	12	13	-1	21	26	12	13	-1	72.333525	21	26	0.390625	1	0	0	0	0	1	0	0	0	--	--		0	A			ADC_uc001bws.2_Missense_Mutation_p.Y390N|ADC_uc009vue.2_Missense_Mutation_p.Y390N|ADC_uc001bwt.1_Missense_Mutation_p.Y295N|ADC_uc001bwu.2_Missense_Mutation_p.Y295N|ADC_uc001bwv.2_Missense_Mutation_p.Y295N|ADC_uc001bww.2_Missense_Mutation_p.Y295N|ADC_uc001bwx.1_Missense_Mutation_p.Y367N|ADC_uc009vug.2_Missense_Mutation_p.Y410N	227	GBM-28-6450-TP	p.Y390N	T	CATGGGCGCCTACACTGTGGG	NM_052998	NP_443724	33583641	Q96A70	ADC_HUMAN	0			11	1755	+	A	A		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	Missense_Mutation	390						
ADCK1	57143	broad.mit.edu	GRCh37	14	78390916	78390916	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000238561.5:c.975G>A	p.Ala325=	p.A325=	ENST00000238561	NM_020421.3	325	gcG/gcA	0			1			A	A	uc001xui.2	protein_coding	YES	CCDS9869.1			975/1572									stomach(2)|ovary(1)	3	c.(973-975)GCG>GCA			hmmpanther:PTHR10566:SF58,hmmpanther:PTHR10566,Gene3D:3.90.1200.10,Superfamily_domains:SSF56112	aarF domain containing kinase 1 isoform a				ENSP00000238561		11-Aug									COSM3401483,COSM3401482	11-Aug	.		ENST00000238561	Transcript				extracellular region	ATP binding|protein serine/threonine kinase activity	ENSG00000063761	g.chr14:78390916G>A	19038			LOW								--	--	1																																		ADCK1_uc010tvo.1_RNA|ADCK1_uc001xuj.2_Silent_p.A257A|ADCK1_uc001xuk.1_Silent_p.A199A|ADCK1_uc001xul.2_Silent_p.A32A	1,1	1			p.A325A	NM_020421	NP_065154			1,1	ADCK1_HUMAN	ADCK1	HGNC	Q86TW2	ADCK1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)			8	1074	+			UPI000014035F	332			Protein kinase.		SNV	ADCK1,synonymous_variant,p.=,ENST00000238561,NM_020421.3;ADCK1,synonymous_variant,p.=,ENST00000341211,NM_001142545.1;ADCK1,downstream_gene_variant,,ENST00000557501,;ADCK1,non_coding_transcript_exon_variant,,ENST00000556560,;ADCK1,non_coding_transcript_exon_variant,,ENST00000555333,;ADCK1,3_prime_UTR_variant,,ENST00000393639,;ADCK1,non_coding_transcript_exon_variant,,ENST00000555217,;	uc001xui.2	c.975G>A	1074/2234	2	2			c.975G>A						14	SNP	c.(973-975)GCG>GCA	22	22			stomach(2)|ovary(1)	3	Broad	aarF domain containing kinase 1 isoform a			78390916		0.557	ENSG00000063761	287	g.chr14:78390916G>A		extracellular region	ATP binding|protein serine/threonine kinase activity			200			200	37.491232	KEEP	7	8	-1	31	39	7	8	-1	44.171121	31	39	0.194805	1	0	0	0	0	0	0	1	0	--	--		0	A			ADCK1_uc010tvo.1_RNA|ADCK1_uc001xuj.2_Silent_p.A257A|ADCK1_uc001xuk.1_Silent_p.A199A|ADCK1_uc001xul.2_Silent_p.A32A	102	GBM-06-5858-TP	p.A325A	G	CGGGAAAGGCGGAGATTGTCC	NM_020421	NP_065154	78390916	Q86TW2	ADCK1_HUMAN	0	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)	8	1074	+	A	A			Silent	332			Protein kinase.			
ADCK4			GRCh37	19	41209757	41209757	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000324464.3:c.580G>C	p.Val194Leu	p.V194L	ENST00000324464	NM_024876.3	194	Gtt/Ctt	0																																																																																																																																																																																																																																												
ADCY1	107	broad.mit.edu	GRCh37	7	45719321	45719321	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0210-01	TCGA-06-0210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297323.7:c.1912C>G	p.Leu638Val	p.L638V	ENST00000297323	NM_021116.2	638	Ctg/Gtg	0			1			G	L/V	uc003tne.3	protein_coding	YES	CCDS34631.1			1912/3360									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6	c.(1912-1914)CTG>GTG			hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF20,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)			ENSP00000297323		20-Nov									COSM3412101	20-Nov	.		ENST00000297323	Transcript	1		activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	ENSG00000164742	g.chr7:45719321C>G	232			MODERATE		1.825	low	getma.org/?cm=msa&ty=f&p=ADCY1_HUMAN&rb=611&re=799&var=L638V	NA	getma.org/?cm=var&var=hg19,7,45719321,C,G&fts=all	L638V	--	--	1																																			1	1		benign(0.2)	p.L638V	NM_021116	NP_066939		tolerated(0.08)	1	ADCY1_HUMAN	ADCY1	HGNC	Q08828	ADCY1_HUMAN			Q8NFM5_HUMAN,D3DVL8_HUMAN		11	1930	+			UPI0000199C4A	638			Helical; (Potential).		SNV	ADCY1,missense_variant,p.Leu638Val,ENST00000297323,NM_021116.2;ADCY1,upstream_gene_variant,,ENST00000468353,;	uc003tne.3	c.1912C>G	1934/12503	3	3			c.1912C>G						7	SNP	c.(1912-1914)CTG>GTG	2	2			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6	Broad	adenylate cyclase 1		Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	45719321		0.577	ENSG00000164742	291	g.chr7:45719321C>G	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding							42.389651	KEEP	17	13	-1	82	95	17	13	-1	64.70259	82	95	0.145946	1	0	0	0	0	1	0	0	0	--	--		0	G				47	GBM-06-0210-TP	p.L638V	C	TGTGGTCGTCCTGCTCCTGCT	NM_021116	NP_066939	45719321	Q08828	ADCY1_HUMAN	0			11	1930	+	G	G			Missense_Mutation	638			Helical; (Potential).			
ADCY1	107	broad.mit.edu	GRCh37	7	45717648	45717648	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs147187783		TCGA-06-5418-01	TCGA-06-5418-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297323.7:c.1786G>A	p.Glu596Lys	p.E596K	ENST00000297323	NM_021116.2	596	Gaa/Aaa	0	A:0.0002		1			A	E/K	uc003tne.3	protein_coding	YES	CCDS34631.1			1786/3360									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6	c.(1786-1788)GAA>AAA			hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF20	adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)		A:0.0006	ENSP00000297323		20-Sep	0.00028	9.61E-05				0.000495			rs147187783,COSM2153322	20-Sep	common_variant		ENST00000297323	Transcript	1		activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	ENSG00000164742	g.chr7:45717648G>A	232			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=ADCY1_HUMAN&rb=479&re=610&var=E596K	NA	getma.org/?cm=var&var=hg19,7,45717648,G,A&fts=all	E596K	--	--	1																																			0,1	1		possibly_damaging(0.591)	p.E596K	NM_021116	NP_066939		tolerated(0.08)	0,1	ADCY1_HUMAN	ADCY1	HGNC	Q08828	ADCY1_HUMAN			Q8NFM5_HUMAN,D3DVL8_HUMAN		9	1804	+			UPI0000199C4A	596			Cytoplasmic (Potential).		SNV	ADCY1,missense_variant,p.Glu596Lys,ENST00000297323,NM_021116.2;	uc003tne.3	c.1786G>A	1808/12503	1	1			c.1786G>A						7	SNP	c.(1786-1788)GAA>AAA	62	62			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6	Broad	adenylate cyclase 1		Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	45717648		0.557	ENSG00000164742	291	g.chr7:45717648G>A	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding							123.217775	KEEP	31	27	-1	97	99	31	27	-1	139.899021	97	99	0.225	1	0	0	0	0	1	0	0	0	--	--		0	A				100	GBM-06-5418-TP	p.E596K	G	CAAACATGTCGAACGGGAGCA	NM_021116	NP_066939	45717648	Q08828	ADCY1_HUMAN	0			9	1804	+	A	A			Missense_Mutation	596			Cytoplasmic (Potential).			
ADCY1	0	broad.mit.edu	GRCh37	7	45632382	45632382	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297323.7:c.664G>A	p.Val222Ile	p.V222I	ENST00000297323	NM_021116.2	222	Gtc/Atc	0			1			A	V/I	uc003tne.3	protein_coding	YES	CCDS34631.1			664/3360									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6	c.(664-666)GTC>ATC			hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF20,Transmembrane_helices:TMhelix	adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)			ENSP00000297323		20-Feb	8.24E-06					1.50E-05			rs369079165,COSM453130	20-Feb	.		ENST00000297323	Transcript	1		activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	ENSG00000164742	g.chr7:45632382G>A	232			MODERATE		1.01	low	getma.org/?cm=msa&ty=f&p=ADCY1_HUMAN&rb=1&re=229&var=V222I	NA	getma.org/?cm=var&var=hg19,7,45632382,G,A&fts=all	V222I	--	--	1																																		ADCY1_uc003tnd.2_5'UTR	0,1	1		benign(0.003)	p.V222I	NM_021116	NP_066939		tolerated(0.69)	0,1	ADCY1_HUMAN	ADCY1	HGNC	Q08828	ADCY1_HUMAN			Q8NFM5_HUMAN,D3DVL8_HUMAN		2	682	+			UPI0000199C4A	222			Helical; (Potential).		SNV	ADCY1,missense_variant,p.Val222Ile,ENST00000297323,NM_021116.2;ADCY1,5_prime_UTR_variant,,ENST00000432715,NM_001281768.1;	uc003tne.3	c.664G>A	686/12503	1	1			c.664G>A						7	SNP	c.(664-666)GTC>ATC	54	54			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6	Broad	adenylate cyclase 1		Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	45632382		0.592	ENSG00000164742	291	g.chr7:45632382G>A	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding							121.706823	KEEP	34	31	-1	104	136	34	31	-1	140.904579	104	136	0.213439	1	0	0	0	0	1	0	0	0	--	--		0	A			ADCY1_uc003tnd.2_5'UTR	160	GBM-19-1790-TP	p.V222I	G	CTTGCTCTTCGTCGGTGTGAA	NM_021116	NP_066939	45632382	Q08828	ADCY1_HUMAN	0			2	682	+	A	A			Missense_Mutation	222			Helical; (Potential).			
ADCY10	0	broad.mit.edu	GRCh37	1	167806486	167806486	+	splice_donor_variant	Splice_Site	SNP	C	C	T			TCGA-12-0616-01	TCGA-12-0616-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367851.4:c.3077+1G>A		p.X1026_splice	ENST00000367851	NM_018417.4			0			1			T		uc001ger.2	protein_coding	YES	CCDS1265.1			3077/4833								p.?(1)	central_nervous_system(2)|ovary(1)	3	c.e22+1				adenylate cyclase 10				ENSP00000356825											COSM43108		.		ENST00000367851	Transcript	1		intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	ENSG00000143199	g.chr1:167806486C>T	21285			HIGH	22/32							--	--	1																																		ADCY10_uc009wvk.2_Splice_Site_p.S934_splice|ADCY10_uc010plj.1_Splice_Site_p.S873_splice	1	1			p.S1026_splice	NM_018417	NP_060887			1	ADCYA_HUMAN	ADCY10	HGNC	Q96PN6	ADCYA_HUMAN					22	3375	-			UPI0000204D00						SNV	ADCY10,splice_donor_variant,,ENST00000367848,;ADCY10,splice_donor_variant,,ENST00000367851,NM_018417.4;ADCY10,splice_donor_variant,,ENST00000545172,NM_001167749.1;ADCY10,intron_variant,,ENST00000485964,;	uc001ger.2	c.3077_splice	-/5051	5	1			c.3077_splice						1	SNP	c.e22+1	10	10		p.?(1)	central_nervous_system(2)|ovary(1)	3	Broad	adenylate cyclase 10			167806486		0.348	ENSG00000143199	292	g.chr1:167806486C>T	intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding							112.717179	KEEP	19	27	-1	36	47	19	27	-1	114.587936	36	47	0.358491	1	0	0	0	0	0	0	0	1	--	--		0	T			ADCY10_uc009wvk.2_Splice_Site_p.S934_splice|ADCY10_uc010plj.1_Splice_Site_p.S873_splice	118	GBM-12-0616-TP	p.S1026_splice	C	TATGCCTCTACCTGCGATTTT	NM_018417	NP_060887	167806486	Q96PN6	ADCYA_HUMAN	0			22	3375	-	T	T			Splice_Site							
ADCY10	0	broad.mit.edu	GRCh37	1	167814945	167814945	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01	TCGA-12-3652-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367851.4:c.2863C>T	p.Arg955Cys	p.R955C	ENST00000367851	NM_018417.4	955	Cgc/Tgc	0			1			A	R/C	uc001ger.2	protein_coding	YES	CCDS1265.1			2863/4833									central_nervous_system(2)|ovary(1)	3	c.(2863-2865)CGC>TGC			PIRSF_domain:PIRSF011131,hmmpanther:PTHR16305,hmmpanther:PTHR16305:SF23	adenylate cyclase 10				ENSP00000356825		21/33									COSM3399961	21/33	.		ENST00000367851	Transcript	1		intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	ENSG00000143199	g.chr1:167814945G>A	21285			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=ADCYA_HUMAN&rb=821&re=1020&var=R955C	NA	getma.org/?cm=var&var=hg19,1,167814945,G,A&fts=all	R955C	--	--	1																																		ADCY10_uc009wvk.2_Missense_Mutation_p.R863C|ADCY10_uc010plj.1_Missense_Mutation_p.R802C|ADCY10_uc009wvl.2_Missense_Mutation_p.R954C	1	1		benign(0.049)	p.R955C	NM_018417	NP_060887		tolerated(0.26)	1	ADCYA_HUMAN	ADCY10	HGNC	Q96PN6	ADCYA_HUMAN					21	3161	-			UPI0000204D00	955					SNV	ADCY10,missense_variant,p.Arg863Cys,ENST00000367848,;ADCY10,missense_variant,p.Arg955Cys,ENST00000367851,NM_018417.4;ADCY10,missense_variant,p.Arg802Cys,ENST00000545172,NM_001167749.1;ADCY10,missense_variant,p.Arg186Cys,ENST00000485964,;	uc001ger.2	c.2863C>T	3048/5051	2	2			c.2863C>T						1	SNP	c.(2863-2865)CGC>TGC	41	41			central_nervous_system(2)|ovary(1)	3	Broad	adenylate cyclase 10			167814945		0.488	ENSG00000143199	292	g.chr1:167814945G>A	intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding							161.866348	KEEP	29	25	-1	39	37	29	25	-1	162.456108	39	37	0.423729	1	0	0	0	0	1	0	0	0	--	--		0	A			ADCY10_uc009wvk.2_Missense_Mutation_p.R863C|ADCY10_uc010plj.1_Missense_Mutation_p.R802C|ADCY10_uc009wvl.2_Missense_Mutation_p.R954C	127	GBM-12-3652-TP	p.R955C	G	TCTAAAAAGCGGGCACATTTC	NM_018417	NP_060887	167814945	Q96PN6	ADCYA_HUMAN	0			21	3161	-	A	A			Missense_Mutation	955						
ADCY2	108	broad.mit.edu	GRCh37	5	7743842	7743842	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01	TCGA-06-0744-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338316.4:c.1933G>A	p.Val645Ile	p.V645I	ENST00000338316	NM_020546.2	645	Gtc/Atc	0		A:0	1	A:0		A	V/I	uc003jdz.1	protein_coding	YES	CCDS3872.2			1933/3276									ovary(5)|pancreas(1)|skin(1)	7	c.(1933-1935)GTC>ATC			hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	adenylate cyclase 2		A:0.002		ENSP00000342952	A:0	15/25	4.12E-05					5.99E-05		6.06E-05	rs202064623,COSM3410423,COSM3410424	15/25	.		ENST00000338316	Transcript		A:0.0004	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	ENSG00000078295	g.chr5:7743842G>A	233			MODERATE		0.35	neutral	getma.org/?cm=msa&ty=f&p=ADCY2_HUMAN&rb=601&re=800&var=V645I	NA	getma.org/?cm=var&var=hg19,5,7743842,G,A&fts=all	V645I	--	--	1																																		ADCY2_uc011cmo.1_Missense_Mutation_p.V465I	0,1,1	1		benign(0.001)	p.V645I	NM_020546	NP_065433	A:0	tolerated(1)	0,1,1	ADCY2_HUMAN	ADCY2	HGNC	Q08462	ADCY2_HUMAN			Q7RTV6_HUMAN,Q71UM8_HUMAN,D6REB8_HUMAN		15	2000	+			UPI000066D9F2	645			Helical; (Potential).		SNV	ADCY2,missense_variant,p.Val645Ile,ENST00000338316,NM_020546.2;ADCY2,missense_variant,p.Val465Ile,ENST00000537121,;RP11-711G10.1,intron_variant,,ENST00000514105,;	uc003jdz.1	c.1933G>A	2022/6575	2	2			c.1933G>A						5	SNP	c.(1933-1935)GTC>ATC	21	21			ovary(5)|pancreas(1)|skin(1)	7	Broad	adenylate cyclase 2			7743842		0.478	ENSG00000078295	293	g.chr5:7743842G>A	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding							-58.655551	KEEP	3	2	-1	179	86	3	2	-1	7.424363	179	86	0.019608	1	0	0	0	0	1	0	0	0	--	--		0	A			ADCY2_uc011cmo.1_Missense_Mutation_p.V465I	66	GBM-06-0744-TP	p.V645I	G	CATCCTCTTCGTCTGCTTTGC	NM_020546	NP_065433	7743842	Q08462	ADCY2_HUMAN	0			15	2000	+	A	A			Missense_Mutation	645			Helical; (Potential).			
ADCY2	0	broad.mit.edu	GRCh37	5	7709333	7709333	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-3915-01	TCGA-41-3915-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338316.4:c.1411C>T	p.Arg471Trp	p.R471W	ENST00000338316	NM_020546.2	471	Cgg/Tgg	0			1			T	R/W	uc003jdz.1	protein_coding	YES	CCDS3872.2			1411/3276									ovary(5)|pancreas(1)|skin(1)	7	c.(1411-1413)CGG>TGG			hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253	adenylate cyclase 2				ENSP00000342952		25-Oct	8.24E-06							7.54E-05	rs754041062,COSM3410421,COSM3410422	25-Oct	.		ENST00000338316	Transcript			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	ENSG00000078295	g.chr5:7709333C>T	233			MODERATE		1.32	low	getma.org/?cm=msa&ty=f&p=ADCY2_HUMAN&rb=436&re=524&var=R471W	NA	getma.org/?cm=var&var=hg19,5,7709333,C,T&fts=all	R471W	--	--	1																																		ADCY2_uc011cmo.1_Missense_Mutation_p.R291W	0,1,1	1		benign(0.006)	p.R471W	NM_020546	NP_065433		deleterious(0.02)	0,1,1	ADCY2_HUMAN	ADCY2	HGNC	Q08462	ADCY2_HUMAN			Q7RTV6_HUMAN,Q71UM8_HUMAN,D6REB8_HUMAN		10	1478	+			UPI000066D9F2	471			Cytoplasmic (Potential).		SNV	ADCY2,missense_variant,p.Arg471Trp,ENST00000338316,NM_020546.2;ADCY2,missense_variant,p.Arg291Trp,ENST00000537121,;RP11-711G10.1,intron_variant,,ENST00000514105,;	uc003jdz.1	c.1411C>T	1500/6575	2	2			c.1411C>T						5	SNP	c.(1411-1413)CGG>TGG	45	45			ovary(5)|pancreas(1)|skin(1)	7	Broad	adenylate cyclase 2			7709333		0.587	ENSG00000078295	293	g.chr5:7709333C>T	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding							36.398188	KEEP	8	11	-1	43	52	8	11	-1	44.75675	43	52	0.191489	1	0	0	0	0	1	0	0	0	--	--		0	T			ADCY2_uc011cmo.1_Missense_Mutation_p.R291W	256	GBM-41-3915-TP	p.R471W	C	GGGAGAACGACGGAGCCCCCA	NM_020546	NP_065433	7709333	Q08462	ADCY2_HUMAN	0			10	1478	+	T	T			Missense_Mutation	471			Cytoplasmic (Potential).			
ADCY3	0	broad.mit.edu	GRCh37	2	25095488	25095489	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-14-0789-01	TCGA-14-0789-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260600.5:c.775dupC	p.Arg259ProfsTer31	p.R259Pfs*31	ENST00000260600	NM_004036.3	259	cgc/cCgc	0			1			G	R/PX	uc002rfs.3	protein_coding	YES	CCDS1715.1			775-776/3435									breast(3)|ovary(1)	4	c.(775-777)CGCfs			hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF221	adenylate cyclase 3				ENSP00000260600		21-Feb										21-Feb	.		ENST00000260600	Transcript			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	ENSG00000138031	g.chr2:25095488_25095489insG	234			HIGH								--	--	1																																		ADCY3_uc010ykm.1_Frame_Shift_Ins_p.R259fs		1			p.R259fs	NM_004036	NP_004027				ADCY3_HUMAN	ADCY3	HGNC	O60266	ADCY3_HUMAN			Q8NBM1_HUMAN,C9J969_HUMAN		2	974_975	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		UPI000013D0ED	259					insertion	ADCY3,frameshift_variant,p.Arg259ProfsTer31,ENST00000260600,NM_004036.3;ADCY3,frameshift_variant,p.Arg25ProfsTer21,ENST00000427849,;ADCY3,frameshift_variant,p.Arg37ProfsTer31,ENST00000433852,;ADCY3,intron_variant,,ENST00000435135,;	uc002rfs.3	c.775_776insC	1627-1628/5050	5	5			c.775_776insC						2	INS	c.(775-777)CGCfs	62	62			breast(3)|ovary(1)	4	Broad	adenylate cyclase 3			25095489		0.634	ENSG00000138031	294	g.chr2:25095488_25095489insG	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding																				0.02	1	0	0	1	1	0	0	0	0	--	--		0	G			ADCY3_uc010ykm.1_Frame_Shift_Ins_p.R259fs	136	GBM-14-0789-TP	p.R259fs	-	CAGCGACTGGCGGGCCTCCAGG	NM_004036	NP_004027	25095488	O60266	ADCY3_HUMAN	0			2	974_975	-	G	G	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		Frame_Shift_Ins	259						
ADCY3	0	broad.mit.edu	GRCh37	2	25141642	25141642	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01	TCGA-19-5954-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260600.5:c.215G>A	p.Arg72Lys	p.R72K	ENST00000260600	NM_004036.3	72	aGg/aAg	0			1			T	R/K	uc002rfs.3	protein_coding	YES	CCDS1715.1			215/3435									breast(3)|ovary(1)	4	c.(214-216)AGG>AAG			hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF221	adenylate cyclase 3				ENSP00000260600		21-Jan									COSM3407772	21-Jan	.		ENST00000260600	Transcript			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	ENSG00000138031	g.chr2:25141642C>T	234			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=ADCY3_HUMAN&rb=1&re=241&var=R72K	NA	getma.org/?cm=var&var=hg19,2,25141642,C,T&fts=all	R72K	--	--	1																																		ADCY3_uc010ykm.1_Missense_Mutation_p.R72K	1	1		possibly_damaging(0.656)	p.R72K	NM_004036	NP_004027		tolerated(0.29)	1	ADCY3_HUMAN	ADCY3	HGNC	O60266	ADCY3_HUMAN			Q8NBM1_HUMAN,C9J969_HUMAN		1	414	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		UPI000013D0ED	72			Cytoplasmic (Potential).		SNV	ADCY3,missense_variant,p.Arg72Lys,ENST00000260600,NM_004036.3;ADCY3,missense_variant,p.Arg72Lys,ENST00000435135,;ADCY3,missense_variant,p.Arg72Lys,ENST00000438445,;	uc002rfs.3	c.215G>A	1067/5050	2	2			c.215G>A						2	SNP	c.(214-216)AGG>AAG	20	20			breast(3)|ovary(1)	4	Broad	adenylate cyclase 3			25141642		0.597	ENSG00000138031	294	g.chr2:25141642C>T	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding							7.774738	KEEP	3	4	-1	26	34	3	4	-1	17.697815	26	34	0.107692	1	0	0	0	0	1	0	0	0	--	--		0	T			ADCY3_uc010ykm.1_Missense_Mutation_p.R72K	174	GBM-19-5954-TP	p.R72K	C	GTGGCGCTGCCTTTTGAAGTA	NM_004036	NP_004027	25141642	O60266	ADCY3_HUMAN	0			1	414	-	T	T	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		Missense_Mutation	72			Cytoplasmic (Potential).			
ADCY3	109		GRCh37	2	25044464	25044464	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000260600.5:c.3049G>A	p.Ala1017Thr	p.A1017T	ENST00000260600	NM_004036.3	1017	Gcc/Acc	0																																																																																																																																																																																																																																												
ADCY4	0	broad.mit.edu	GRCh37	14	24787905	24787905	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5952-01	TCGA-19-5952-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310677.4:c.3036C>T	p.Asn1012=	p.N1012=	ENST00000310677	NM_001198568.1	1012	aaC/aaT	0			1			A	N	uc001wov.2	protein_coding	YES	CCDS9627.1			3036/3234									ovary(1)|lung(1)|pancreas(1)	3	c.(3034-3036)AAC>AAT			Gene3D:3.30.70.1230,Pfam_domain:PF00211,PROSITE_patterns:PS00452,PROSITE_profiles:PS50125,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF286,SMART_domains:SM00044,Superfamily_domains:SSF55073	adenylate cyclase 4				ENSP00000312126		25/26	8.24E-06					1.50E-05			rs751597622,COSM2156687	25/26	.		ENST00000310677	Transcript			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	ENSG00000129467	g.chr14:24787905G>A	235			LOW								--	--	1																																		ADCY4_uc001wow.2_Silent_p.N1012N|ADCY4_uc010toh.1_Silent_p.N698N|ADCY4_uc001wox.2_Silent_p.N1012N|ADCY4_uc001woy.2_Silent_p.N1012N	0,1	1			p.N1012N	NM_139247	NP_640340			0,1	ADCY4_HUMAN	ADCY4	HGNC	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	Q96KY6_HUMAN,Q86TZ7_HUMAN,H0YN72_HUMAN,H0YLM0_HUMAN		24	3042	-			UPI00000398CC	1012			Cytoplasmic (Potential).		SNV	ADCY4,synonymous_variant,p.=,ENST00000310677,NM_001198568.1,NM_139247.3,NM_001198592.1;ADCY4,synonymous_variant,p.=,ENST00000554068,;ADCY4,synonymous_variant,p.=,ENST00000418030,;LTB4R,downstream_gene_variant,,ENST00000396789,NM_181657.3;ADCY4,downstream_gene_variant,,ENST00000396747,;LTB4R,downstream_gene_variant,,ENST00000396782,;LTB4R,downstream_gene_variant,,ENST00000345363,;LTB4R,downstream_gene_variant,,ENST00000556141,;LTB4R,downstream_gene_variant,,ENST00000553481,;ADCY4,3_prime_UTR_variant,,ENST00000557056,;ADCY4,3_prime_UTR_variant,,ENST00000554781,;ADCY4,non_coding_transcript_exon_variant,,ENST00000554577,;ADCY4,non_coding_transcript_exon_variant,,ENST00000545213,;ADCY4,non_coding_transcript_exon_variant,,ENST00000555684,;ADCY4,downstream_gene_variant,,ENST00000554936,;ADCY4,downstream_gene_variant,,ENST00000560635,;ADCY4,downstream_gene_variant,,ENST00000561200,;	uc001wov.2	c.3036C>T	3150/3415	1	1			c.3036C>T						14	SNP	c.(3034-3036)AAC>AAT	57	57			ovary(1)|lung(1)|pancreas(1)	3	Broad	adenylate cyclase 4			24787905		0.537	ENSG00000129467	295	g.chr14:24787905G>A	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			1			1	107.429513	KEEP	16	26	-1	36	46	16	26	-1	110.22526	36	46	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	A			ADCY4_uc001wow.2_Silent_p.N1012N|ADCY4_uc010toh.1_Silent_p.N698N|ADCY4_uc001wox.2_Silent_p.N1012N|ADCY4_uc001woy.2_Silent_p.N1012N	172	GBM-19-5952-TP	p.N1012N	G	GGCTGGCCACGTTCACTGTGT	NM_139247	NP_640340	24787905	Q8NFM4	ADCY4_HUMAN	0		GBM - Glioblastoma multiforme(265;0.0192)	24	3042	-	A	A			Silent	1012			Cytoplasmic (Potential).			
ADCY5	111	broad.mit.edu	GRCh37	3	123038564	123038564	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0749-01	TCGA-06-0749-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000462833.1:c.2213G>A	p.Arg738His	p.R738H	ENST00000462833	NM_183357.2	738	cGc/cAc	0			1			T	R/H	uc003egh.1	protein_coding	YES	CCDS3022.1			2213/3786									ovary(4)	4	c.(2212-2214)CGC>CAC			Pfam_domain:PF06327,hmmpanther:PTHR11920:SF259,hmmpanther:PTHR11920	adenylate cyclase 5				ENSP00000419361		21-Oct									COSM2151914	21-Oct	.		ENST00000462833	Transcript	1		activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	ENSG00000173175	g.chr3:123038564C>T	236			MODERATE		0.755	neutral	getma.org/?cm=msa&ty=f&p=ADCY5_HUMAN&rb=668&re=761&var=R738H	NA	getma.org/?cm=var&var=hg19,3,123038564,C,T&fts=all	R738H	--	--	1																																		ADCY5_uc003egg.1_Missense_Mutation_p.R371H|ADCY5_uc003egi.1_Missense_Mutation_p.R297H	1	1		benign(0.066)	p.R738H	NM_183357	NP_899200		tolerated(0.11)	1	ADCY5_HUMAN	ADCY5	HGNC	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	C9JRT8_HUMAN,C9JQ38_HUMAN,B7Z801_HUMAN,B7Z2C7_HUMAN		10	2213	-			UPI000015E262	738			Cytoplasmic (Potential).		SNV	ADCY5,missense_variant,p.Arg738His,ENST00000462833,NM_183357.2;ADCY5,missense_variant,p.Arg371His,ENST00000491190,;ADCY5,missense_variant,p.Arg388His,ENST00000309879,NM_001199642.1;ADCY5,missense_variant,p.Arg297His,ENST00000466617,;ADCY5,upstream_gene_variant,,ENST00000468683,;	uc003egh.1	c.2213G>A	3426/7311	2	2			c.2213G>A						3	SNP	c.(2212-2214)CGC>CAC	45	45			ovary(4)	4	Broad	adenylate cyclase 5			123038564		0.587	ENSG00000173175	296	g.chr3:123038564C>T	activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding							43.392972	KEEP	9	11	-1	47	30	9	11	-1	50.130794	47	30	0.213483	1	0	0	0	0	1	0	0	0	--	--		0	T			ADCY5_uc003egg.1_Missense_Mutation_p.R371H|ADCY5_uc003egi.1_Missense_Mutation_p.R297H	69	GBM-06-0749-TP	p.R738H	C	GAGGAACTTGCGGACGTGCTC	NM_183357	NP_899200	123038564	O95622	ADCY5_HUMAN	0		GBM - Glioblastoma multiforme(114;0.0342)	10	2213	-	T	T			Missense_Mutation	738			Cytoplasmic (Potential).			
ADCY5	111	broad.mit.edu	GRCh37	3	123166426	123166426	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000462833.1:c.967C>T	p.Arg323Cys	p.R323C	ENST00000462833	NM_183357.2	323	Cgc/Tgc	0			1			A	R/C	uc003egh.1	protein_coding	YES	CCDS3022.1			967/3786									ovary(4)	4	c.(967-969)CGC>TGC			hmmpanther:PTHR11920:SF259,hmmpanther:PTHR11920	adenylate cyclase 5				ENSP00000419361		21-Jan									COSM2152181	21-Jan	.		ENST00000462833	Transcript	1		activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	ENSG00000173175	g.chr3:123166426G>A	236			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=ADCY5_HUMAN&rb=259&re=458&var=R323C	NA	getma.org/?cm=var&var=hg19,3,123166426,G,A&fts=all	R323C	--	--	1																																			1	1		possibly_damaging(0.899)	p.R323C	NM_183357	NP_899200		deleterious(0.01)	1	ADCY5_HUMAN	ADCY5	HGNC	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	C9JRT8_HUMAN,C9JQ38_HUMAN,B7Z801_HUMAN,B7Z2C7_HUMAN		1	967	-			UPI000015E262	323					SNV	ADCY5,missense_variant,p.Arg323Cys,ENST00000462833,NM_183357.2;	uc003egh.1	c.967C>T	2180/7311	1	1			c.967C>T						3	SNP	c.(967-969)CGC>TGC	51	51			ovary(4)	4	Broad	adenylate cyclase 5			123166426		0.687	ENSG00000173175	296	g.chr3:123166426G>A	activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding							18.248207	KEEP	9	4	-1	4	10	9	4	-1	18.310405	4	10	0.428571	1	0	0	0	0	1	0	0	0	--	--		0	A				73	GBM-06-0877-TP	p.R323C	G	GAGGCGCTGCGTGGCTGCGGC	NM_183357	NP_899200	123166426	O95622	ADCY5_HUMAN	0		GBM - Glioblastoma multiforme(114;0.0342)	1	967	-	A	A			Missense_Mutation	323						
ADCY5	111	broad.mit.edu	GRCh37	3	123003491	123003491	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0879-01	TCGA-06-0879-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000462833.1:c.3750G>T	p.Met1250Ile	p.M1250I	ENST00000462833	NM_183357.2	1250	atG/atT	0			1			A	M/I	uc003egh.1	protein_coding	YES	CCDS3022.1			3750/3786									ovary(4)	4	c.(3748-3750)ATG>ATT			Superfamily_domains:SSF55073,Pfam_domain:PF00211,Gene3D:3.30.70.1230,hmmpanther:PTHR11920:SF259,hmmpanther:PTHR11920	adenylate cyclase 5				ENSP00000419361		21/21									COSM3408189	21/21	.		ENST00000462833	Transcript	1		activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	ENSG00000173175	g.chr3:123003491C>A	236			MODERATE		0.285	neutral	getma.org/?cm=msa&ty=f&p=ADCY5_HUMAN&rb=1062&re=1256&var=M1250I	getma.org/pdb.php?prot=ADCY5_HUMAN&from=1062&to=1256&var=M1250I	getma.org/?cm=var&var=hg19,3,123003491,C,A&fts=all	M1250I	--	--	1																																		ADCY5_uc003egg.1_Missense_Mutation_p.M908I	1	1		benign(0.01)	p.M1250I	NM_183357	NP_899200		tolerated(0.6)	1	ADCY5_HUMAN	ADCY5	HGNC	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	C9JRT8_HUMAN,C9JQ38_HUMAN,B7Z801_HUMAN,B7Z2C7_HUMAN		21	3750	-			UPI000015E262	1250			Cytoplasmic (Potential).		SNV	ADCY5,missense_variant,p.Met1250Ile,ENST00000462833,NM_183357.2;ADCY5,missense_variant,p.Met908Ile,ENST00000491190,;ADCY5,missense_variant,p.Met900Ile,ENST00000309879,NM_001199642.1;RP11-797D24.4,downstream_gene_variant,,ENST00000608436,;ADCY5,non_coding_transcript_exon_variant,,ENST00000478092,;	uc003egh.1	c.3750G>T	4963/7311	1	1			c.3750G>T						3	SNP	c.(3748-3750)ATG>ATT	52	52			ovary(4)	4	Broad	adenylate cyclase 5			123003491		0.607	ENSG00000173175	296	g.chr3:123003491C>A	activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding							-17.280314	KEEP	14	9	0.391304348	148	158	14	9	0.391304348	42.422647	148	158	0.067961	1	0	0	0	0	1	0	0	0	--	--		0	A			ADCY5_uc003egg.1_Missense_Mutation_p.M908I	75	GBM-06-0879-TP	p.M1250I	C	GGAAGTAGGTCATCATCTCGC	NM_183357	NP_899200	123003491	O95622	ADCY5_HUMAN	0		GBM - Glioblastoma multiforme(114;0.0342)	21	3750	-	A	A			Missense_Mutation	1250			Cytoplasmic (Potential).			
ADCY5	0	broad.mit.edu	GRCh37	3	123008753	123008753	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01	TCGA-06-6695-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000462833.1:c.3376G>A	p.Gly1126Ser	p.G1126S	ENST00000462833	NM_183357.2	1126	Ggc/Agc	0			1			T	G/S	uc003egh.1	protein_coding	YES	CCDS3022.1			3376/3786									ovary(4)	4	c.(3376-3378)GGC>AGC			Superfamily_domains:SSF55073,SMART_domains:SM00044,Pfam_domain:PF00211,Gene3D:3.30.70.1230,hmmpanther:PTHR11920:SF259,hmmpanther:PTHR11920,PROSITE_profiles:PS50125	adenylate cyclase 5				ENSP00000419361		19/21									COSM3408190	19/21	.		ENST00000462833	Transcript	1		activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	ENSG00000173175	g.chr3:123008753C>T	236			MODERATE		2.77	medium	getma.org/?cm=msa&ty=f&p=ADCY5_HUMAN&rb=1062&re=1256&var=G1126S	getma.org/pdb.php?prot=ADCY5_HUMAN&from=1062&to=1256&var=G1126S	getma.org/?cm=var&var=hg19,3,123008753,C,T&fts=all	G1126S	--	--	1																																		ADCY5_uc003egg.1_Missense_Mutation_p.G784S	1	1		probably_damaging(0.93)	p.G1126S	NM_183357	NP_899200		deleterious(0)	1	ADCY5_HUMAN	ADCY5	HGNC	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	C9JRT8_HUMAN,C9JQ38_HUMAN,B7Z801_HUMAN,B7Z2C7_HUMAN		19	3376	-			UPI000015E262	1126			Cytoplasmic (Potential).|Guanylate cyclase 2.		SNV	ADCY5,missense_variant,p.Gly1126Ser,ENST00000462833,NM_183357.2;ADCY5,missense_variant,p.Gly784Ser,ENST00000491190,;ADCY5,missense_variant,p.Gly776Ser,ENST00000309879,NM_001199642.1;ADCY5,upstream_gene_variant,,ENST00000478092,;	uc003egh.1	c.3376G>A	4589/7311	1	1			c.3376G>A						3	SNP	c.(3376-3378)GGC>AGC	16	16			ovary(4)	4	Broad	adenylate cyclase 5			123008753		0.592	ENSG00000173175	296	g.chr3:123008753C>T	activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding							63.046968	KEEP	13	10	-1	11	18	13	10	-1	63.119031	11	18	0.458333	1	0	0	0	0	1	0	0	0	--	--		0	T			ADCY5_uc003egg.1_Missense_Mutation_p.G784S	110	GBM-06-6695-TP	p.G1126S	C	TAGGTGCTGCCGATGGTCTTG	NM_183357	NP_899200	123008753	O95622	ADCY5_HUMAN	0		GBM - Glioblastoma multiforme(114;0.0342)	19	3376	-	T	T			Missense_Mutation	1126			Cytoplasmic (Potential).|Guanylate cyclase 2.			
ADCY5	0	broad.mit.edu	GRCh37	3	123046533	123046533	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01	TCGA-26-5135-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000462833.1:c.1879G>A	p.Glu627Lys	p.E627K	ENST00000462833	NM_183357.2	627	Gag/Aag	0			1			T	E/K	uc003egh.1	protein_coding	YES	CCDS3022.1			1879/3786									ovary(4)	4	c.(1879-1881)GAG>AAG			Superfamily_domains:SSF55073,Gene3D:3.30.70.1230,hmmpanther:PTHR11920:SF259,hmmpanther:PTHR11920	adenylate cyclase 5				ENSP00000419361		21-Jul									COSM203108	21-Jul	.		ENST00000462833	Transcript	1		activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	ENSG00000173175	g.chr3:123046533C>T	236			MODERATE		1.295	low	getma.org/?cm=msa&ty=f&p=ADCY5_HUMAN&rb=460&re=644&var=E627K	getma.org/pdb.php?prot=ADCY5_HUMAN&from=460&to=644&var=E627K	getma.org/?cm=var&var=hg19,3,123046533,C,T&fts=all	E627K	--	--	1																																		ADCY5_uc003egg.1_Missense_Mutation_p.E260K|ADCY5_uc003egi.1_Missense_Mutation_p.E186K	1	1		possibly_damaging(0.848)	p.E627K	NM_183357	NP_899200		deleterious(0)	1	ADCY5_HUMAN	ADCY5	HGNC	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	C9JRT8_HUMAN,C9JQ38_HUMAN,B7Z801_HUMAN,B7Z2C7_HUMAN		7	1879	-			UPI000015E262	627			Cytoplasmic (Potential).		SNV	ADCY5,missense_variant,p.Glu627Lys,ENST00000462833,NM_183357.2;ADCY5,missense_variant,p.Glu260Lys,ENST00000491190,;ADCY5,missense_variant,p.Glu277Lys,ENST00000309879,NM_001199642.1;ADCY5,missense_variant,p.Glu186Lys,ENST00000466617,;ADCY5,downstream_gene_variant,,ENST00000483566,;ADCY5,downstream_gene_variant,,ENST00000476455,;	uc003egh.1	c.1879G>A	3092/7311	1	1			c.1879G>A						3	SNP	c.(1879-1881)GAG>AAG	5	5			ovary(4)	4	Broad	adenylate cyclase 5			123046533		0.642	ENSG00000173175	296	g.chr3:123046533C>T	activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding							66.384553	KEEP	16	10	-1	17	25	16	10	-1	67.167656	17	25	0.380952	1	0	0	0	0	1	0	0	0	--	--		0	T			ADCY5_uc003egg.1_Missense_Mutation_p.E260K|ADCY5_uc003egi.1_Missense_Mutation_p.E186K	184	GBM-26-5135-TP	p.E627K	C	GCGTTGCGCTCGCCCCCACAG	NM_183357	NP_899200	123046533	O95622	ADCY5_HUMAN	0		GBM - Glioblastoma multiforme(114;0.0342)	7	1879	-	T	T			Missense_Mutation	627			Cytoplasmic (Potential).			
ADCY5	0	broad.mit.edu	GRCh37	3	123036910	123036910	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01	TCGA-41-3392-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000462833.1:c.2311G>A	p.Val771Ile	p.V771I	ENST00000462833	NM_183357.2	771	Gtc/Atc	0			1			T	V/I	uc003egh.1	protein_coding	YES	CCDS3022.1			2311/3786									ovary(4)	4	c.(2311-2313)GTC>ATC			Transmembrane_helices:TMhelix,hmmpanther:PTHR11920:SF259,hmmpanther:PTHR11920	adenylate cyclase 5				ENSP00000419361		21-Nov	0.000107			0.000116		0.000165		6.07E-05	rs201333022,COSM3057067	21-Nov	.		ENST00000462833	Transcript	1		activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	ENSG00000173175	g.chr3:123036910C>T	236			MODERATE		1.53	low	getma.org/?cm=msa&ty=f&p=ADCY5_HUMAN&rb=762&re=961&var=V771I	NA	getma.org/?cm=var&var=hg19,3,123036910,C,T&fts=all	V771I	--	--	1																																		ADCY5_uc003egg.1_Missense_Mutation_p.V404I|ADCY5_uc003egi.1_Missense_Mutation_p.V330I	0,1	1		benign(0.088)	p.V771I	NM_183357	NP_899200		tolerated(0.15)	0,1	ADCY5_HUMAN	ADCY5	HGNC	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	C9JRT8_HUMAN,C9JQ38_HUMAN,B7Z801_HUMAN,B7Z2C7_HUMAN		11	2311	-			UPI000015E262	771			Helical; (Potential).		SNV	ADCY5,missense_variant,p.Val771Ile,ENST00000462833,NM_183357.2;ADCY5,missense_variant,p.Val404Ile,ENST00000491190,;ADCY5,missense_variant,p.Val421Ile,ENST00000309879,NM_001199642.1;ADCY5,missense_variant,p.Val330Ile,ENST00000466617,;ADCY5,non_coding_transcript_exon_variant,,ENST00000468683,;	uc003egh.1	c.2311G>A	3524/7311	2	2			c.2311G>A						3	SNP	c.(2311-2313)GTC>ATC	38	38			ovary(4)	4	Broad	adenylate cyclase 5			123036910		0.602	ENSG00000173175	296	g.chr3:123036910C>T	activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding							-4.452207	KEEP	2	3	-1	40	30	2	3	-1	8.586632	40	30	0.061538	1	0	0	0	0	1	0	0	0	--	--		0	T			ADCY5_uc003egg.1_Missense_Mutation_p.V404I|ADCY5_uc003egi.1_Missense_Mutation_p.V330I	254	GBM-41-3392-TP	p.V771I	C	AAGAGGAAGACGAGCGAGGCA	NM_183357	NP_899200	123036910	O95622	ADCY5_HUMAN	0		GBM - Glioblastoma multiforme(114;0.0342)	11	2311	-	T	T			Missense_Mutation	771			Helical; (Potential).			
ADCY5	111		GRCh37	3	123038651	123038651	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000462833.1:c.2126G>A	p.Ser709Asn	p.S709N	ENST00000462833	NM_183357.2	709	aGt/aAt	0																																																																																																																																																																																																																																												
ADCY6	112	broad.mit.edu	GRCh37	12	49169145	49169145	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2561-01	TCGA-06-2561-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307885.4:c.1921C>T	p.Arg641Trp	p.R641W	ENST00000307885	NM_015270.3	641	Cgg/Tgg	0			1			A	R/W	uc001rsh.3	protein_coding	YES	CCDS8767.1			1921/3507										0	c.(1921-1923)CGG>TGG			Pfam_domain:PF06327,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF263	adenylate cyclase 6 isoform a				ENSP00000311405		21-Oct	1.65E-05					3.00E-05			rs754255254,COSM2152752	21-Oct	.		ENST00000307885	Transcript	1		activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	ENSG00000174233	g.chr12:49169145G>A	237			MODERATE		2.415	medium	getma.org/?cm=msa&ty=f&p=ADCY6_HUMAN&rb=578&re=669&var=R641W	NA	getma.org/?cm=var&var=hg19,12,49169145,G,A&fts=all	R641W	--	--	1																																		ADCY6_uc001rsj.3_Missense_Mutation_p.R641W|ADCY6_uc001rsi.3_Missense_Mutation_p.R641W|ADCY6_uc010slw.1_5'Flank	0,1	1		probably_damaging(0.999)	p.R641W	NM_015270	NP_056085		deleterious(0)	0,1	ADCY6_HUMAN	ADCY6	HGNC	O43306	ADCY6_HUMAN			Q9NR74_HUMAN,Q6LCE1_HUMAN		10	2581	-			UPI000003EC29	641			Cytoplasmic (Potential).		SNV	ADCY6,missense_variant,p.Arg641Trp,ENST00000307885,NM_015270.3;ADCY6,missense_variant,p.Arg641Trp,ENST00000357869,;ADCY6,missense_variant,p.Arg641Trp,ENST00000550422,NM_020983.2;ADCY6,downstream_gene_variant,,ENST00000548820,;MIR4701,upstream_gene_variant,,ENST00000583094,;ADCY6,non_coding_transcript_exon_variant,,ENST00000552090,;ADCY6,upstream_gene_variant,,ENST00000548351,;ADCY6,upstream_gene_variant,,ENST00000547260,;ADCY6,upstream_gene_variant,,ENST00000552099,;ADCY6,downstream_gene_variant,,ENST00000551435,;	uc001rsh.3	c.1921C>T	2616/6464	2	2			c.1921C>T						12	SNP	c.(1921-1923)CGG>TGG	17	17				0	Broad	adenylate cyclase 6 isoform a			49169145		0.597	ENSG00000174233	297	g.chr12:49169145G>A	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding							99.951365	KEEP	16	22	-1	48	49	16	22	-1	104.011118	48	49	0.305785	1	0	0	0	0	1	0	0	0	--	--		0	A			ADCY6_uc001rsj.3_Missense_Mutation_p.R641W|ADCY6_uc001rsi.3_Missense_Mutation_p.R641W|ADCY6_uc010slw.1_5'Flank	84	GBM-06-2561-TP	p.R641W	G	TGGTCCTTCCGCAGCTGATCA	NM_015270	NP_056085	49169145	O43306	ADCY6_HUMAN	0			10	2581	-	A	A			Missense_Mutation	641			Cytoplasmic (Potential).			
ADCY6	0	broad.mit.edu	GRCh37	12	49164592	49164592	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307885.4:c.3213G>A	p.Lys1071=	p.K1071=	ENST00000307885	NM_015270.3	1071	aaG/aaA	0			1			T	K	uc001rsh.3	protein_coding	YES	CCDS8767.1			3213/3507										0	c.(3211-3213)AAG>AAA			Gene3D:3.30.70.1230,Pfam_domain:PF00211,PROSITE_profiles:PS50125,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF263,SMART_domains:SM00044,Superfamily_domains:SSF55073	adenylate cyclase 6 isoform a				ENSP00000311405		19/21									COSM3398752	19/21	.		ENST00000307885	Transcript	1		activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	ENSG00000174233	g.chr12:49164592C>T	237			LOW								--	--	1																																		ADCY6_uc001rsj.3_Silent_p.K1071K|ADCY6_uc001rsi.3_Silent_p.K1018K|ADCY6_uc010slw.1_3'UTR	1	1			p.K1071K	NM_015270	NP_056085			1	ADCY6_HUMAN	ADCY6	HGNC	O43306	ADCY6_HUMAN			Q9NR74_HUMAN,Q6LCE1_HUMAN		19	3873	-			UPI000003EC29	1071			Cytoplasmic (Potential).		SNV	ADCY6,synonymous_variant,p.=,ENST00000307885,NM_015270.3;ADCY6,synonymous_variant,p.=,ENST00000357869,;ADCY6,synonymous_variant,p.=,ENST00000550422,NM_020983.2;MIR4701,downstream_gene_variant,,ENST00000583094,;RP11-579D7.2,downstream_gene_variant,,ENST00000548742,;ADCY6,downstream_gene_variant,,ENST00000552090,;ADCY6,downstream_gene_variant,,ENST00000548351,;ADCY6,non_coding_transcript_exon_variant,,ENST00000547260,;ADCY6,downstream_gene_variant,,ENST00000552099,;	uc001rsh.3	c.3213G>A	3908/6464	2	2			c.3213G>A						12	SNP	c.(3211-3213)AAG>AAA	26	26				0	Broad	adenylate cyclase 6 isoform a			49164592		0.552	ENSG00000174233	297	g.chr12:49164592C>T	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding							2178.823862	KEEP	368	363	-1	88	89	368	363	-1	2247.623285	88	89	0.80799	1	0	0	0	0	0	0	1	0	--	--		0	T			ADCY6_uc001rsj.3_Silent_p.K1071K|ADCY6_uc001rsi.3_Silent_p.K1018K|ADCY6_uc010slw.1_3'UTR	218	GBM-28-5209-TP	p.K1071K	C	CATTGATGTGCTTCATCTGCT	NM_015270	NP_056085	49164592	O43306	ADCY6_HUMAN	0			19	3873	-	T	T			Silent	1071			Cytoplasmic (Potential).			
ADCY6	0	broad.mit.edu	GRCh37	12	49177063	49177063	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5216-01	TCGA-28-5216-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307885.4:c.155C>T	p.Pro52Leu	p.P52L	ENST00000307885	NM_015270.3	52	cCa/cTa	0			1			A	P/L	uc001rsh.3	protein_coding	YES	CCDS8767.1			155/3507										0	c.(154-156)CCA>CTA			hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF263,Low_complexity_(Seg):seg	adenylate cyclase 6 isoform a				ENSP00000311405		21-Jan									COSM3398754	21-Jan	.		ENST00000307885	Transcript	1		activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	ENSG00000174233	g.chr12:49177063G>A	237			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=ADCY6_HUMAN&rb=1&re=200&var=P52L	NA	getma.org/?cm=var&var=hg19,12,49177063,G,A&fts=all	P52L	--	--	1																																		ADCY6_uc001rsj.3_Missense_Mutation_p.P52L|ADCY6_uc001rsi.3_Missense_Mutation_p.P52L	1	1		benign(0.004)	p.P52L	NM_015270	NP_056085		tolerated(0.09)	1	ADCY6_HUMAN	ADCY6	HGNC	O43306	ADCY6_HUMAN			Q9NR74_HUMAN,Q6LCE1_HUMAN		1	815	-			UPI000003EC29	52			Cytoplasmic (Potential).		SNV	ADCY6,missense_variant,p.Pro52Leu,ENST00000307885,NM_015270.3;ADCY6,missense_variant,p.Pro52Leu,ENST00000357869,;ADCY6,missense_variant,p.Pro52Leu,ENST00000550422,NM_020983.2;ADCY6,upstream_gene_variant,,ENST00000548820,;	uc001rsh.3	c.155C>T	850/6464	2	2			c.155C>T						12	SNP	c.(154-156)CCA>CTA	25	25				0	Broad	adenylate cyclase 6 isoform a			49177063		0.716	ENSG00000174233	297	g.chr12:49177063G>A	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding							32.518154	KEEP	6	8	-1	9	9	6	8	-1	32.720878	9	9	0.407407	1	0	0	0	0	1	0	0	0	--	--		0	A			ADCY6_uc001rsj.3_Missense_Mutation_p.P52L|ADCY6_uc001rsi.3_Missense_Mutation_p.P52L	223	GBM-28-5216-TP	p.P52L	G	GGGGCTGGGTGGCTCTGCATC	NM_015270	NP_056085	49177063	O43306	ADCY6_HUMAN	0			1	815	-	A	A			Missense_Mutation	52			Cytoplasmic (Potential).			
ADCY7	0	broad.mit.edu	GRCh37	16	50349362	50349362	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254235.3:c.3189G>T	p.Arg1063Ser	p.R1063S	ENST00000254235	NM_001114.3	1063	agG/agT	0			1			T	R/S	uc002egd.1	protein_coding		CCDS10741.1			3189/3243									skin(1)	1	c.(3187-3189)AGG>AGT			hmmpanther:PTHR11920:SF273,hmmpanther:PTHR11920,Pfam_domain:PF00211,Gene3D:3.30.70.1230,Superfamily_domains:SSF55073	adenylate cyclase 7	Bromocriptine(DB01200)			ENSP00000254235		25/25									COSM2156089	25/25	.		ENST00000254235	Transcript			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	ENSG00000121281	g.chr16:50349362G>T	238			MODERATE		1.095	low	getma.org/?cm=msa&ty=f&p=ADCY7_HUMAN&rb=870&re=1069&var=R1063S	getma.org/pdb.php?prot=ADCY7_HUMAN&from=870&to=1069&var=R1063S	getma.org/?cm=var&var=hg19,16,50349362,G,T&fts=all	R1063S	--	--	1																																			1			possibly_damaging(0.608)	p.R1063S	NM_001114	NP_001105		tolerated(0.07)	1	ADCY7_HUMAN	ADCY7	HGNC	P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	I3L3Q5_HUMAN		25	3457	+		all_cancers(37;0.0127)	UPI000004C5DB	1063			Cytoplasmic (Potential).		SNV	ADCY7,missense_variant,p.Arg1063Ser,ENST00000394697,;ADCY7,missense_variant,p.Arg1063Ser,ENST00000254235,NM_001114.3;BRD7,3_prime_UTR_variant,,ENST00000562383,;BRD7,downstream_gene_variant,,ENST00000394688,;ADCY7,downstream_gene_variant,,ENST00000566433,NM_001286057.1;ADCY7,downstream_gene_variant,,ENST00000538642,;BRD7,downstream_gene_variant,,ENST00000394689,NM_001173984.2,NM_013263.4;ADCY7,downstream_gene_variant,,ENST00000537579,;BRD7,downstream_gene_variant,,ENST00000569774,;ADCY7,non_coding_transcript_exon_variant,,ENST00000568930,;ADCY7,downstream_gene_variant,,ENST00000567277,;	uc002egd.1	c.3189G>T	3457/6130	2	2			c.3189G>T						16	SNP	c.(3187-3189)AGG>AGT	26	26			skin(1)	1	Broad	adenylate cyclase 7		Bromocriptine(DB01200)	50349362		0.572	ENSG00000121281	298	g.chr16:50349362G>T	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding							90.779071	KEEP	15	27	0.357142857	47	72	15	27	0.357142857	97.382009	47	72	0.271429	1	0	0	0	0	1	0	0	0	--	--		0	T				160	GBM-19-1790-TP	p.R1063S	G	GCGAGCTGAGGACTTACTTTG	NM_001114	NP_001105	50349362	P51828	ADCY7_HUMAN	0		GBM - Glioblastoma multiforme(240;0.195)	25	3457	+	T	T		all_cancers(37;0.0127)	Missense_Mutation	1063			Cytoplasmic (Potential).			
ADCY8	0	broad.mit.edu	GRCh37	8	131896832	131896832	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-19-5951-01	TCGA-19-5951-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286355.5:c.2087A>C	p.Lys696Thr	p.K696T	ENST00000286355	NM_001115.2	696	aAa/aCa	0			1			G	K/T	uc003ytd.3	protein_coding	YES	CCDS6363.1			2087/3756									skin(4)|large_intestine(1)|central_nervous_system(1)	6	c.(2086-2088)AAA>ACA			Pfam_domain:PF06327,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF229	adenylate cyclase 8				ENSP00000286355		18-Aug									COSM2156616	18-Aug	.		ENST00000286355	Transcript			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	ENSG00000155897	g.chr8:131896832T>G	239			MODERATE		1.28	low	getma.org/?cm=msa&ty=f&p=ADCY8_HUMAN&rb=617&re=712&var=K696T	NA	getma.org/?cm=var&var=hg19,8,131896832,T,G&fts=all	K696T	--	--	1				HNSCC(32;0.087)																														ADCY8_uc010mds.2_Missense_Mutation_p.K696T	1	1		benign(0.176)	p.K696T	NM_001115	NP_001106		tolerated(0.09)	1	ADCY8_HUMAN	ADCY8	HGNC	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		E5RFR2_HUMAN		8	2343	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		UPI000012887C	696			Cytoplasmic (Potential).		SNV	ADCY8,missense_variant,p.Lys696Thr,ENST00000286355,NM_001115.2;ADCY8,missense_variant,p.Lys696Thr,ENST00000377928,;	uc003ytd.3	c.2087A>C	4180/5938	3	3			c.2087A>C						8	SNP	c.(2086-2088)AAA>ACA	49	49			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Broad	adenylate cyclase 8			131896832		0.468	ENSG00000155897	299	g.chr8:131896832T>G	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding							280.583105	KEEP	27	66	-1	52	60	27	66	-1	280.903611	52	60	0.455056	1	0	0	0	0	1	0	0	0	--	--	HNSCC(32;0.087)	0	G			ADCY8_uc010mds.2_Missense_Mutation_p.K696T	171	GBM-19-5951-TP	p.K696T	T	GCTGGAGTCTTTAAACATCAG	NM_001115	NP_001106	131896832	P40145	ADCY8_HUMAN	0	BRCA - Breast invasive adenocarcinoma(115;0.000538)		8	2343	-	G	G	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	696			Cytoplasmic (Potential).			
ADCY8	0	broad.mit.edu	GRCh37	8	132002709	132002709	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01	TCGA-41-5651-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286355.5:c.1040G>A	p.Arg347His	p.R347H	ENST00000286355	NM_001115.2	347	cGc/cAc	0		T:0	1	T:0.0014		T	R/H	uc003ytd.3	protein_coding	YES	CCDS6363.1			1040/3756									skin(4)|large_intestine(1)|central_nervous_system(1)	6	c.(1039-1041)CGC>CAC			hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF229	adenylate cyclase 8		T:0		ENSP00000286355	T:0	18-Feb	2.47E-05		8.65E-05			1.50E-05		6.06E-05	rs201905912,COSM1238135	18-Feb	.		ENST00000286355	Transcript		T:0.0006	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	ENSG00000155897	g.chr8:132002709C>T	239			MODERATE		2.515	medium	getma.org/?cm=msa&ty=f&p=ADCY8_HUMAN&rb=201&re=400&var=R347H	NA	getma.org/?cm=var&var=hg19,8,132002709,C,T&fts=all	R347H	--	--	1				HNSCC(32;0.087)																														ADCY8_uc010mds.2_Missense_Mutation_p.R347H	0,1	1		probably_damaging(0.991)	p.R347H	NM_001115	NP_001106	T:0.002	deleterious(0)	0,1	ADCY8_HUMAN	ADCY8	HGNC	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		E5RFR2_HUMAN		2	1296	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		UPI000012887C	347			Cytoplasmic (Potential).		SNV	ADCY8,missense_variant,p.Arg347His,ENST00000286355,NM_001115.2;ADCY8,missense_variant,p.Arg347His,ENST00000377928,;ADCY8,5_prime_UTR_variant,,ENST00000522949,;	uc003ytd.3	c.1040G>A	3133/5938	2	2			c.1040G>A						8	SNP	c.(1039-1041)CGC>CAC	28	28			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Broad	adenylate cyclase 8			132002709		0.522	ENSG00000155897	299	g.chr8:132002709C>T	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding							323.489892	KEEP	61	53	-1	41	60	61	53	-1	323.649169	41	60	0.530303	1	0	0	0	0	1	0	0	0	--	--	HNSCC(32;0.087)	0	T			ADCY8_uc010mds.2_Missense_Mutation_p.R347H	258	GBM-41-5651-TP	p.R347H	C	GAAAGCTTGGCGCTGGGCCCG	NM_001115	NP_001106	132002709	P40145	ADCY8_HUMAN	0	BRCA - Breast invasive adenocarcinoma(115;0.000538)		2	1296	-	T	T	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	347			Cytoplasmic (Potential).			
ADCY9	115	broad.mit.edu	GRCh37	16	4033425	4033425	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294016.3:c.2327C>T	p.Pro776Leu	p.P776L	ENST00000294016	NM_001116.3	776	cCc/cTc	0			1			A	P/L	uc002cvx.2	protein_coding	YES	CCDS32382.1			2327/4062									ovary(4)|large_intestine(1)|central_nervous_system(1)	6	c.(2326-2328)CCC>CTC			hmmpanther:PTHR11920:SF272,hmmpanther:PTHR11920	adenylate cyclase 9				ENSP00000294016		11-Jul										11-Jul	.		ENST00000294016	Transcript			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	ENSG00000162104	g.chr16:4033425G>A	240			MODERATE		1.78	low	getma.org/?cm=msa&ty=f&p=ADCY9_HUMAN&rb=774&re=973&var=P776L	NA	getma.org/?cm=var&var=hg19,16,4033425,G,A&fts=all	P776L	--	--	1																																				1		benign(0.269)	p.P776L	NM_001116	NP_001107		tolerated(0.09)		ADCY9_HUMAN	ADCY9	HGNC	O60503	ADCY9_HUMAN					7	2866	-			UPI000012887F	776			Cytoplasmic (Potential).		SNV	ADCY9,missense_variant,p.Pro776Leu,ENST00000294016,NM_001116.3;ADCY9,missense_variant,p.Pro9Leu,ENST00000576936,;ADCY9,non_coding_transcript_exon_variant,,ENST00000575550,;ADCY9,non_coding_transcript_exon_variant,,ENST00000574721,;	uc002cvx.2	c.2327C>T	2866/7725	2	2			c.2327C>T						16	SNP	c.(2326-2328)CCC>CTC	21	21			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Broad	adenylate cyclase 9			4033425		0.562	ENSG00000162104	300	g.chr16:4033425G>A	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding							12.997324	KEEP	0	4	-1	6	2	0	4	-1	13.177172	6	2	0.363636	1	0	0	0	0	1	0	0	0	--	--		0	A				23	GBM-06-0145-TP	p.P776L	G	CGTCTTCACGGGGGAGTTCTT	NM_001116	NP_001107	4033425	O60503	ADCY9_HUMAN	0			7	2866	-	A	A			Missense_Mutation	776			Cytoplasmic (Potential).			
ADCY9	115	broad.mit.edu	GRCh37	16	4016471	4016471	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5410-01	TCGA-06-5410-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294016.3:c.3367G>A	p.Ala1123Thr	p.A1123T	ENST00000294016	NM_001116.3	1123	Gcg/Acg	0			1			T	A/T	uc002cvx.2	protein_coding	YES	CCDS32382.1			3367/4062									ovary(4)|large_intestine(1)|central_nervous_system(1)	6	c.(3367-3369)GCG>ACG			PROSITE_profiles:PS50125,hmmpanther:PTHR11920:SF272,hmmpanther:PTHR11920,Gene3D:3.30.70.1230,Pfam_domain:PF00211,SMART_domains:SM00044,Superfamily_domains:SSF55073	adenylate cyclase 9				ENSP00000294016		11-Nov	5.77E-05							0.000424	rs771725261,COSM3402320	11-Nov	common_variant		ENST00000294016	Transcript			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	ENSG00000162104	g.chr16:4016471C>T	240			MODERATE		0.07	neutral	getma.org/?cm=msa&ty=f&p=ADCY9_HUMAN&rb=1049&re=1244&var=A1123T	getma.org/pdb.php?prot=ADCY9_HUMAN&from=1049&to=1244&var=A1123T	getma.org/?cm=var&var=hg19,16,4016471,C,T&fts=all	A1123T	--	--	1																																			0,1	1		benign(0)	p.A1123T	NM_001116	NP_001107		tolerated(0.59)	0,1	ADCY9_HUMAN	ADCY9	HGNC	O60503	ADCY9_HUMAN					11	3906	-			UPI000012887F	1123			Guanylate cyclase 2.|Cytoplasmic (Potential).		SNV	ADCY9,missense_variant,p.Ala1123Thr,ENST00000294016,NM_001116.3;ADCY9,intron_variant,,ENST00000576936,;	uc002cvx.2	c.3367G>A	3906/7725	1	1			c.3367G>A						16	SNP	c.(3367-3369)GCG>ACG	6	6			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Broad	adenylate cyclase 9			4016471		0.602	ENSG00000162104	300	g.chr16:4016471C>T	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding							-12.251983	KEEP	3	4	-1	56	71	3	4	-1	13.3638	56	71	0.056452	1	0	0	0	0	1	0	0	0	--	--		0	T				93	GBM-06-5410-TP	p.A1123T	C	TGGGCCTGCGCGGTGTTCAGC	NM_001116	NP_001107	4016471	O60503	ADCY9_HUMAN	0			11	3906	-	T	T			Missense_Mutation	1123			Guanylate cyclase 2.|Cytoplasmic (Potential).			
ADCY9	0	broad.mit.edu	GRCh37	16	4033331	4033331	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2494-01	TCGA-32-2494-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294016.3:c.2421G>A	p.Leu807=	p.L807=	ENST00000294016	NM_001116.3	807	ctG/ctA	0			1			T	L	uc002cvx.2	protein_coding	YES	CCDS32382.1			2421/4062									ovary(4)|large_intestine(1)|central_nervous_system(1)	6	c.(2419-2421)CTG>CTA			hmmpanther:PTHR11920:SF272,hmmpanther:PTHR11920	adenylate cyclase 9				ENSP00000294016		11-Jul									COSM3402322	11-Jul	.		ENST00000294016	Transcript			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	ENSG00000162104	g.chr16:4033331C>T	240			LOW								--	--	1																																OREG0023573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1	1			p.L807L	NM_001116	NP_001107			1	ADCY9_HUMAN	ADCY9	HGNC	O60503	ADCY9_HUMAN					7	2960	-			UPI000012887F	807			Helical; (Potential).		SNV	ADCY9,synonymous_variant,p.=,ENST00000294016,NM_001116.3;ADCY9,synonymous_variant,p.=,ENST00000576936,;ADCY9,downstream_gene_variant,,ENST00000575550,;ADCY9,non_coding_transcript_exon_variant,,ENST00000574721,;	uc002cvx.2	c.2421G>A	2960/7725	2	2			c.2421G>A						16	SNP	c.(2419-2421)CTG>CTA	33	33			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Broad	adenylate cyclase 9			4033331		0.637	ENSG00000162104	300	g.chr16:4033331C>T	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding							5.042075	KEEP	2	0	-1	5	5	2	0	-1	6.306354	5	5	0.166667	1	0	0	0	0	0	0	1	0	--	--		0	T	OREG0023573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		236	GBM-32-2494-TP	p.L807L	C	CCTCGTACTTCAGGAAGCAGG	NM_001116	NP_001107	4033331	O60503	ADCY9_HUMAN	0			7	2960	-	T	T			Silent	807			Helical; (Potential).			
ADCY9	0	broad.mit.edu	GRCh37	16	4042213	4042213	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-32-4213-01	TCGA-32-4213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294016.3:c.2141C>A	p.Pro714Gln	p.P714Q	ENST00000294016	NM_001116.3	714	cCg/cAg	0			1			T	P/Q	uc002cvx.2	protein_coding	YES	CCDS32382.1			2141/4062									ovary(4)|large_intestine(1)|central_nervous_system(1)	6	c.(2140-2142)CCG>CAG			hmmpanther:PTHR11920:SF272,hmmpanther:PTHR11920	adenylate cyclase 9				ENSP00000294016		11-May									COSM3402323	11-May	.		ENST00000294016	Transcript			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	ENSG00000162104	g.chr16:4042213G>T	240			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=ADCY9_HUMAN&rb=574&re=773&var=P714Q	NA	getma.org/?cm=var&var=hg19,16,4042213,G,T&fts=all	P714Q	--	--	1																																			1	1		benign(0.346)	p.P714Q	NM_001116	NP_001107		tolerated(0.29)	1	ADCY9_HUMAN	ADCY9	HGNC	O60503	ADCY9_HUMAN					5	2680	-			UPI000012887F	714			Cytoplasmic (Potential).		SNV	ADCY9,missense_variant,p.Pro714Gln,ENST00000294016,NM_001116.3;ADCY9,downstream_gene_variant,,ENST00000572288,;ADCY9,upstream_gene_variant,,ENST00000576936,;ADCY9,non_coding_transcript_exon_variant,,ENST00000571889,;ADCY9,intron_variant,,ENST00000575550,;ADCY9,3_prime_UTR_variant,,ENST00000571467,;	uc002cvx.2	c.2141C>A	2680/7725	2	2			c.2141C>A						16	SNP	c.(2140-2142)CCG>CAG	17	17			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Broad	adenylate cyclase 9			4042213		0.542	ENSG00000162104	300	g.chr16:4042213G>T	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding							124.762068	KEEP	21	28	0.428571429	64	75	21	28	0.428571429	131.352919	64	75	0.281046	1	0	0	0	0	1	0	0	0	--	--		0	T				247	GBM-32-4213-TP	p.P714Q	G	GAACCTCAGCGGAAGGAGAGC	NM_001116	NP_001107	4042213	O60503	ADCY9_HUMAN	0			5	2680	-	T	T			Missense_Mutation	714			Cytoplasmic (Potential).			
ADCY9	115		GRCh37	16	4016798	4016798	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000294016.3:c.3040G>A	p.Ala1014Thr	p.A1014T	ENST00000294016	NM_001116.3	1014	Gcg/Acg	0																																																																																																																																																																																																																																												
ADCYAP1R1	117	broad.mit.edu	GRCh37	7	31126052	31126052	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-2558-01	TCGA-06-2558-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396211.2:c.724T>A	p.Phe242Ile	p.F242I	ENST00000396211		242	Ttc/Atc	0			1			A	F/I	uc003tca.1	protein_coding		CCDS5433.1			724/1407									ovary(1)	1	c.(724-726)TTC>ATC			Pfam_domain:PF00002,Prints_domain:PR00249,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF228,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	adenylate cyclase activating polypeptide 1				ENSP00000306620		16-Oct									COSM3411984	16-Oct	.		ENST00000304166	Transcript			activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	ENSG00000078549	g.chr7:31126052T>A	242			MODERATE		3.205	medium	getma.org/?cm=msa&ty=f&p=PACR_HUMAN&rb=150&re=396&var=F242I	NA	getma.org/?cm=var&var=hg19,7,31126052,T,A&fts=all	F242I	--	--	1																																		ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.F221I|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.F242I|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.F242I|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.F242I|ADCYAP1R1_uc003tcf.1_5'Flank	1			probably_damaging(0.996)	p.F242I	NM_001118	NP_001109		deleterious(0)	1	PACR_HUMAN	ADCYAP1R1	HGNC	P41586	PACR_HUMAN			C9JVH3_HUMAN		10	947	+			UPI0000061EE0	242			Helical; Name=3; (Potential).		SNV	ADCYAP1R1,missense_variant,p.Phe242Ile,ENST00000304166,NM_001199636.1,NM_001199635.1,NM_001118.4;ADCYAP1R1,missense_variant,p.Phe221Ile,ENST00000409363,NM_001199637.1;ADCYAP1R1,missense_variant,p.Phe242Ile,ENST00000409489,;ADCYAP1R1,missense_variant,p.Phe242Ile,ENST00000396211,;ADCYAP1R1,upstream_gene_variant,,ENST00000436116,;	uc003tca.1	c.724T>A	1013/6487	2	2			c.724T>A						7	SNP	c.(724-726)TTC>ATC	18	18			ovary(1)	1	Broad	adenylate cyclase activating polypeptide 1			31126052		0.542	ENSG00000078549	302	g.chr7:31126052T>A	activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	Ovarian(44;225 1186 2158 11092)			Ovarian(44;225 1186 2158 11092)			-13.993296	KEEP	3	5	-1	56	87	3	5	-1	14.140972	56	87	0.052632	1	0	0	0	0	1	0	0	0	--	--		0	A			ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.F221I|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.F242I|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.F242I|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.F242I|ADCYAP1R1_uc003tcf.1_5'Flank	82	GBM-06-2558-TP	p.F242I	T	GTCCAACTACTTCTGGCTGTT	NM_001118	NP_001109	31126052	P41586	PACR_HUMAN	0			10	947	+	A	A			Missense_Mutation	242			Helical; Name=3; (Potential).			
ADD1	118	broad.mit.edu	GRCh37	4	2877779	2877779	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264758.7:c.137G>A	p.Arg46His	p.R46H	ENST00000264758	NM_014189.3	46	cGc/cAc	0			1			A	R/H	uc003gfr.2	protein_coding		CCDS43205.1			137/2214									ovary(1)	1	c.(136-138)CGC>CAC			hmmpanther:PTHR10672,hmmpanther:PTHR10672:SF4	adducin 1 (alpha) isoform a				ENSP00000381197		14-Jan	1.65E-05					3.00E-05			rs767055661,COSM3134001,COSM3409249	14-Jan	.		ENST00000398129	Transcript			actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	ENSG00000087274	g.chr4:2877779G>A	243			MODERATE		2.48	medium	getma.org/?cm=msa&ty=f&p=ADDA_HUMAN&rb=1&re=146&var=R46H	NA	getma.org/?cm=var&var=hg19,4,2877779,G,A&fts=all	R46H	--	--	1																																		ADD1_uc003gfn.2_Intron|ADD1_uc010ico.1_Missense_Mutation_p.R46H|ADD1_uc003gfo.2_Missense_Mutation_p.R46H|ADD1_uc003gfp.2_Missense_Mutation_p.R46H|ADD1_uc003gfq.2_Missense_Mutation_p.R46H|ADD1_uc003gfs.2_Missense_Mutation_p.R46H|ADD1_uc003gft.3_Missense_Mutation_p.R46H	0,1,1			probably_damaging(0.999)	p.R46H	NM_001119	NP_001110		deleterious(0)	0,1,1	ADDA_HUMAN	ADD1	HGNC	P35611	ADDA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	Q4TT76_HUMAN,D6RAH3_HUMAN		2	325	+			UPI0000125501	46					SNV	ADD1,missense_variant,p.Arg46His,ENST00000355842,NM_001286645.1;ADD1,missense_variant,p.Arg46His,ENST00000398125,NM_176801.2,NM_014190.3;ADD1,missense_variant,p.Arg46His,ENST00000264758,NM_014189.3;ADD1,missense_variant,p.Arg46His,ENST00000446856,NM_001119.4;ADD1,missense_variant,p.Arg46His,ENST00000398129,;ADD1,missense_variant,p.Arg46His,ENST00000503455,;ADD1,missense_variant,p.Arg46His,ENST00000513328,;ADD1,missense_variant,p.Arg46His,ENST00000398123,;ADD1,missense_variant,p.Arg46His,ENST00000511797,;ADD1,missense_variant,p.Arg46His,ENST00000508277,;ADD1,missense_variant,p.Arg46His,ENST00000510101,;ADD1,non_coding_transcript_exon_variant,,ENST00000508684,;ADD1,non_coding_transcript_exon_variant,,ENST00000503169,;ADD1,non_coding_transcript_exon_variant,,ENST00000509039,;ADD1,non_coding_transcript_exon_variant,,ENST00000540541,;	uc003gfr.2	c.137G>A	157/3787	2	2			c.137G>A						4	SNP	c.(136-138)CGC>CAC	28	28			ovary(1)	1	Broad	adducin 1 (alpha) isoform a			2877779		0.517	ENSG00000087274	303	g.chr4:2877779G>A	actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	Esophageal Squamous(71;505 1201 20414 34538 37449)			Esophageal Squamous(71;505 1201 20414 34538 37449)			211.9706	KEEP	35	34	-1	15	15	35	34	-1	215.180691	15	15	0.694737	1	0	0	0	0	1	0	0	0	--	--		0	A			ADD1_uc003gfn.2_Intron|ADD1_uc010ico.1_Missense_Mutation_p.R46H|ADD1_uc003gfo.2_Missense_Mutation_p.R46H|ADD1_uc003gfp.2_Missense_Mutation_p.R46H|ADD1_uc003gfq.2_Missense_Mutation_p.R46H|ADD1_uc003gfs.2_Missense_Mutation_p.R46H|ADD1_uc003gft.3_Missense_Mutation_p.R46H	102	GBM-06-5858-TP	p.R46H	G	CCAGACCTTCGCCAGGACTTC	NM_001119	NP_001110	2877779	P35611	ADDA_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	2	325	+	A	A			Missense_Mutation	46						
ADD1	0	broad.mit.edu	GRCh37	4	2930135	2930135	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01	TCGA-26-5135-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398129.1:c.2099G>A	p.Gly700Glu	p.G700E	ENST00000398129		700	gGg/gAg	0			1			A	G/E	uc003gfr.2	protein_coding		CCDS43205.1			2099/2214									ovary(1)	1	c.(2098-2100)GGG>GAG			Low_complexity_(Seg):seg,hmmpanther:PTHR10672,hmmpanther:PTHR10672:SF4	adducin 1 (alpha) isoform a				ENSP00000381197		14/14									COSM2157048	14/14	.		ENST00000398129	Transcript			actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	ENSG00000087274	g.chr4:2930135G>A	243			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=ADDA_HUMAN&rb=530&re=729&var=G700E	NA	getma.org/?cm=var&var=hg19,4,2930135,G,A&fts=all	G700E	--	--	1																																		ADD1_uc003gfn.2_RNA|ADD1_uc003gfo.2_3'UTR|ADD1_uc003gfp.2_3'UTR|ADD1_uc003gfq.2_Missense_Mutation_p.G731E|ADD1_uc003gfs.2_3'UTR	1			unknown(0)	p.G700E	NM_001119	NP_001110		deleterious_low_confidence(0.01)	1	ADDA_HUMAN	ADD1	HGNC	P35611	ADDA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	Q4TT76_HUMAN,D6RAH3_HUMAN		15	2287	+			UPI0000125501	700					SNV	ADD1,missense_variant,p.Gly731Glu,ENST00000264758,NM_014189.3;ADD1,missense_variant,p.Gly700Glu,ENST00000446856,NM_001119.4;ADD1,missense_variant,p.Gly700Glu,ENST00000398129,;ADD1,missense_variant,p.Gly437Glu,ENST00000514940,;ADD1,3_prime_UTR_variant,,ENST00000355842,NM_001286645.1;ADD1,3_prime_UTR_variant,,ENST00000398125,NM_176801.2,NM_014190.3;ADD1,3_prime_UTR_variant,,ENST00000503455,;ADD1,3_prime_UTR_variant,,ENST00000513328,;ADD1,3_prime_UTR_variant,,ENST00000398123,;ADD1,3_prime_UTR_variant,,ENST00000536424,;MFSD10,downstream_gene_variant,,ENST00000329687,NM_001120.4;MFSD10,downstream_gene_variant,,ENST00000514800,;MFSD10,downstream_gene_variant,,ENST00000355443,NM_001146069.1;MFSD10,downstream_gene_variant,,ENST00000508221,;MFSD10,downstream_gene_variant,,ENST00000507555,;ADD1,downstream_gene_variant,,ENST00000541843,;ADD1,upstream_gene_variant,,ENST00000538860,;ADD1,non_coding_transcript_exon_variant,,ENST00000513762,;MFSD10,downstream_gene_variant,,ENST00000503596,;MFSD10,downstream_gene_variant,,ENST00000507272,;MFSD10,downstream_gene_variant,,ENST00000509676,;ADD1,downstream_gene_variant,,ENST00000541051,;MFSD10,downstream_gene_variant,,ENST00000514031,;MFSD10,downstream_gene_variant,,ENST00000512781,;MFSD10,downstream_gene_variant,,ENST00000508276,;ADD1,downstream_gene_variant,,ENST00000503062,;ADD1,downstream_gene_variant,,ENST00000539149,;	uc003gfr.2	c.2099G>A	2119/3787	2	2			c.2099G>A						4	SNP	c.(2098-2100)GGG>GAG	42	42			ovary(1)	1	Broad	adducin 1 (alpha) isoform a			2930135		0.662	ENSG00000087274	303	g.chr4:2930135G>A	actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	Esophageal Squamous(71;505 1201 20414 34538 37449)			Esophageal Squamous(71;505 1201 20414 34538 37449)			163.229113	KEEP	28	35	-1	44	49	28	35	-1	163.937601	44	49	0.421053	1	0	0	0	0	1	0	0	0	--	--		0	A			ADD1_uc003gfn.2_RNA|ADD1_uc003gfo.2_3'UTR|ADD1_uc003gfp.2_3'UTR|ADD1_uc003gfq.2_Missense_Mutation_p.G731E|ADD1_uc003gfs.2_3'UTR	184	GBM-26-5135-TP	p.G700E	G	GTCGAGGAGGGGGCCGCCGCG	NM_001119	NP_001110	2930135	P35611	ADDA_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	15	2287	+	A	A			Missense_Mutation	700						
ADD2	119	broad.mit.edu	GRCh37	2	70901894	70901894	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01	TCGA-06-2562-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264436.4:c.1657G>A	p.Val553Met	p.V553M	ENST00000264436	NM_001617.3	553	Gtg/Atg	0			1			T	V/M	uc002sgz.2	protein_coding	YES	CCDS1906.1			1657/2181									ovary(2)|pancreas(1)	3	c.(1657-1659)GTG>ATG			hmmpanther:PTHR10672:SF6,hmmpanther:PTHR10672	adducin 2 isoform a				ENSP00000264436		14/16									COSM2152825,COSM2152824	14/16	.		ENST00000264436	Transcript			actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	ENSG00000075340	g.chr2:70901894C>T	244			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=ADDB_HUMAN&rb=518&re=717&var=V553M	NA	getma.org/?cm=var&var=hg19,2,70901894,C,T&fts=all	V553M	--	--	1																																		ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Missense_Mutation_p.V553M|ADD2_uc002sha.2_Missense_Mutation_p.V247M|ADD2_uc002sgx.2_Missense_Mutation_p.V553M|ADD2_uc010fdt.1_Missense_Mutation_p.V553M	1,1	1		benign(0.013)	p.V553M	NM_001617	NP_001608		tolerated(0.26)	1,1	ADDB_HUMAN	ADD2	HGNC	P35612	ADDB_HUMAN			Q96HD4_HUMAN,C9J299_HUMAN,C9J080_HUMAN		14	2122	-			UPI0000125503	553					SNV	ADD2,missense_variant,p.Val553Met,ENST00000264436,NM_001617.3;ADD2,missense_variant,p.Val553Met,ENST00000407644,NM_001185054.1;ADD2,missense_variant,p.Val553Met,ENST00000355733,NM_017488.3;ADD2,missense_variant,p.Val305Met,ENST00000456320,;ADD2,missense_variant,p.Val247Met,ENST00000522886,;ADD2,downstream_gene_variant,,ENST00000413157,NM_017482.3;ADD2,downstream_gene_variant,,ENST00000430656,NM_001185055.1;ADD2,missense_variant,p.Val553Met,ENST00000403045,;ADD2,upstream_gene_variant,,ENST00000481675,;	uc002sgz.2	c.1657G>A	2102/9267	2	2			c.1657G>A						2	SNP	c.(1657-1659)GTG>ATG	36	36			ovary(2)|pancreas(1)	3	Broad	adducin 2 isoform a			70901894		0.507	ENSG00000075340	304	g.chr2:70901894C>T	actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding							189.452714	KEEP	45	31	-1	74	87	45	31	-1	195.417796	74	87	0.32243	1	0	0	0	0	1	0	0	0	--	--		0	T			ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Missense_Mutation_p.V553M|ADD2_uc002sha.2_Missense_Mutation_p.V247M|ADD2_uc002sgx.2_Missense_Mutation_p.V553M|ADD2_uc010fdt.1_Missense_Mutation_p.V553M	85	GBM-06-2562-TP	p.V553M	C	GGGTTGGGCACCGTCTCCTCT	NM_001617	NP_001608	70901894	P35612	ADDB_HUMAN	0			14	2122	-	T	T			Missense_Mutation	553						
ADD2	0	broad.mit.edu	GRCh37	2	70890611	70890611	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-27-2524-01	TCGA-27-2524-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264436.4:c.2127C>G	p.Phe709Leu	p.F709L	ENST00000264436	NM_001617.3	709	ttC/ttG	0			1			C	F/L	uc002sgz.2	protein_coding	YES	CCDS1906.1			2127/2181									ovary(2)|pancreas(1)	3	c.(2125-2127)TTC>TTG			Low_complexity_(Seg):seg,hmmpanther:PTHR10672:SF6,hmmpanther:PTHR10672	adducin 2 isoform a				ENSP00000264436		16/16									COSM3407952	16/16	.		ENST00000264436	Transcript			actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	ENSG00000075340	g.chr2:70890611G>C	244			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=ADDB_HUMAN&rb=518&re=717&var=F709L	NA	getma.org/?cm=var&var=hg19,2,70890611,G,C&fts=all	F709L	--	--	1																																		ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_3'UTR|ADD2_uc002sha.2_Missense_Mutation_p.F403L|ADD2_uc002sgx.2_3'UTR	1	1		unknown(0)	p.F709L	NM_001617	NP_001608		tolerated(0.11)	1	ADDB_HUMAN	ADD2	HGNC	P35612	ADDB_HUMAN			Q96HD4_HUMAN,C9J299_HUMAN,C9J080_HUMAN		16	2592	-			UPI0000125503	709			Interaction with calmodulin (Potential).		SNV	ADD2,missense_variant,p.Phe709Leu,ENST00000264436,NM_001617.3;ADD2,missense_variant,p.Phe709Leu,ENST00000407644,NM_001185054.1;ADD2,downstream_gene_variant,,ENST00000355733,NM_017488.3;ADD2,missense_variant,p.Phe709Leu,ENST00000403045,;ADD2,downstream_gene_variant,,ENST00000481675,;	uc002sgz.2	c.2127C>G	2572/9267	3	3			c.2127C>G						2	SNP	c.(2125-2127)TTC>TTG	55	55			ovary(2)|pancreas(1)	3	Broad	adducin 2 isoform a			70890611		0.527	ENSG00000075340	304	g.chr2:70890611G>C	actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding							-113.235513	KEEP	4	2	-1	259	244	4	2	-1	10.697258	259	244	0.0131	1	0	0	0	0	1	0	0	0	--	--		0	C			ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_3'UTR|ADD2_uc002sha.2_Missense_Mutation_p.F403L|ADD2_uc002sgx.2_3'UTR	202	GBM-27-2524-TP	p.F709L	G	AGGGGGTTCGGAATTTCTTTT	NM_001617	NP_001608	70890611	P35612	ADDB_HUMAN	0			16	2592	-	C	C			Missense_Mutation	709			Interaction with calmodulin (Potential).			
ADH1A	0	broad.mit.edu	GRCh37	4	100205753	100205753	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-26-5134-01	TCGA-26-5134-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000209668.2:c.370C>A	p.Leu124Met	p.L124M	ENST00000209668	NM_000667.3	124	Ctg/Atg	0			1			T	L/M	uc003hur.1	protein_coding	YES	CCDS3648.1			370/1128									large_intestine(1)|ovary(1)	2	c.(370-372)CTG>ATG			Superfamily_domains:SSF50129,SMART_domains:SM00829,Gene3D:3.90.180.10,Pfam_domain:PF08240,hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF376	class I alcohol dehydrogenase, alpha subunit	Fomepizole(DB01213)|NADH(DB00157)			ENSP00000209668		9-May									COSM2156992	9-May	.		ENST00000209668	Transcript			ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	ENSG00000187758	g.chr4:100205753G>T	249			MODERATE		-0.785	neutral	getma.org/?cm=msa&ty=f&p=ADH1A_HUMAN&rb=34&re=161&var=L124M	getma.org/pdb.php?prot=ADH1A_HUMAN&from=34&to=161&var=L124M	getma.org/?cm=var&var=hg19,4,100205753,G,T&fts=all	L124M	--	--	1																																		uc003hum.1_Intron|ADH1A_uc011ceg.1_Missense_Mutation_p.L124M|ADH1A_uc010ilf.1_Translation_Start_Site	1	1		benign(0.065)	p.L124M	NM_000667	NP_000658		tolerated(1)	1	ADH1A_HUMAN	ADH1A	HGNC	P07327	ADH1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)			5	441	-			UPI0000062219	124					SNV	ADH1A,missense_variant,p.Leu124Met,ENST00000209668,NM_000667.3;RP11-696N14.1,intron_variant,,ENST00000500358,;RP11-696N14.1,downstream_gene_variant,,ENST00000506160,;ADH1A,downstream_gene_variant,,ENST00000511656,;ADH1A,intron_variant,,ENST00000503461,;	uc003hur.1	c.370C>A	484/1499	2	2			c.370C>A						4	SNP	c.(370-372)CTG>ATG	22	22			large_intestine(1)|ovary(1)	2	Broad	class I alcohol dehydrogenase, alpha subunit		Fomepizole(DB01213)|NADH(DB00157)	100205753		0.517	ENSG00000187758	306	g.chr4:100205753G>T	ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding							118.45019	KEEP	26	15	0.634146341	25	39	26	15	0.634146341	119.232595	25	39	0.405941	1	0	0	0	0	1	0	0	0	--	--		0	T			uc003hum.1_Intron|ADH1A_uc011ceg.1_Missense_Mutation_p.L124M|ADH1A_uc010ilf.1_Translation_Start_Site	183	GBM-26-5134-TP	p.L124M	G	CCATCCTGCAGGGTCCCCTGA	NM_000667	NP_000658	100205753	P07327	ADH1A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	5	441	-	T	T			Missense_Mutation	124						
ADH1A	0	broad.mit.edu	GRCh37	4	100208729	100208729	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01	TCGA-76-4928-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000209668.2:c.112C>T	p.Arg38Cys	p.R38C	ENST00000209668	NM_000667.3	38	Cgt/Tgt	0			1			A	R/C	uc003hur.1	protein_coding	YES	CCDS3648.1			112/1128									large_intestine(1)|ovary(1)	2	c.(112-114)CGT>TGT			Superfamily_domains:SSF50129,SMART_domains:SM00829,Gene3D:3.90.180.10,Pfam_domain:PF08240,hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF376	class I alcohol dehydrogenase, alpha subunit	Fomepizole(DB01213)|NADH(DB00157)			ENSP00000209668		9-Feb									COSM1049405	9-Feb	.		ENST00000209668	Transcript			ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	ENSG00000187758	g.chr4:100208729G>A	249			MODERATE		3.825	high	getma.org/?cm=msa&ty=f&p=ADH1A_HUMAN&rb=34&re=161&var=R38C	getma.org/pdb.php?prot=ADH1A_HUMAN&from=34&to=161&var=R38C	getma.org/?cm=var&var=hg19,4,100208729,G,A&fts=all	R38C	--	--	1																																		uc003hum.1_Intron|ADH1A_uc011ceg.1_Missense_Mutation_p.R38C|ADH1A_uc010ilf.1_5'Flank|ADH1A_uc010ilg.1_Missense_Mutation_p.R38C	1	1		benign(0.377)	p.R38C	NM_000667	NP_000658		deleterious(0.04)	1	ADH1A_HUMAN	ADH1A	HGNC	P07327	ADH1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)			2	183	-			UPI0000062219	38					SNV	ADH1A,missense_variant,p.Arg38Cys,ENST00000209668,NM_000667.3;RP11-696N14.1,intron_variant,,ENST00000500358,;RP11-696N14.1,upstream_gene_variant,,ENST00000509939,;ADH1A,non_coding_transcript_exon_variant,,ENST00000511656,;ADH1A,non_coding_transcript_exon_variant,,ENST00000503461,;	uc003hur.1	c.112C>T	226/1499	1	1			c.112C>T						4	SNP	c.(112-114)CGT>TGT	60	60			large_intestine(1)|ovary(1)	2	Broad	class I alcohol dehydrogenase, alpha subunit		Fomepizole(DB01213)|NADH(DB00157)	100208729		0.348	ENSG00000187758	306	g.chr4:100208729G>A	ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding							50.315611	KEEP	15	12	-1	67	40	15	12	-1	60.367482	67	40	0.203252	1	0	0	0	0	1	0	0	0	--	--		0	A			uc003hum.1_Intron|ADH1A_uc011ceg.1_Missense_Mutation_p.R38C|ADH1A_uc010ilf.1_5'Flank|ADH1A_uc010ilg.1_Missense_Mutation_p.R38C	268	GBM-76-4928-TP	p.R38C	G	ACCTTAATACGAACTTCATGG	NM_000667	NP_000658	100208729	P07327	ADH1A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	2	183	-	A	A			Missense_Mutation	38						
ADH1B	0	broad.mit.edu	GRCh37	4	100232699	100232699	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-12-3650-01	TCGA-12-3650-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305046.8:c.943T>G	p.Trp315Gly	p.W315G	ENST00000305046		315	Tgg/Ggg	0			1			C	W/G	uc003hus.3	protein_coding	YES	CCDS34033.1			943/1128									ovary(1)|breast(1)	2	c.(943-945)TGG>GGG			hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF376,Pfam_domain:PF00107,SMART_domains:SM00829,Superfamily_domains:SSF51735	class I alcohol dehydrogenase, beta subunit	Fomepizole(DB01213)|NADH(DB00157)			ENSP00000306606		9-Jul									COSM3408943	9-Jul	.		ENST00000305046	Transcript	1		ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	ENSG00000196616	g.chr4:100232699A>C	250			MODERATE		3.295	medium	getma.org/?cm=msa&ty=f&p=ADH1B_HUMAN&rb=203&re=335&var=W315G	getma.org/pdb.php?prot=ADH1B_HUMAN&from=203&to=335&var=W315G	getma.org/?cm=var&var=hg19,4,100232699,A,C&fts=all	W315G	--	--	1																																		ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Missense_Mutation_p.W275G|ADH1B_uc011ceh.1_Missense_Mutation_p.W160G|ADH1B_uc011cei.1_Missense_Mutation_p.W275G	1	1		probably_damaging(0.988)	p.W315G	NM_000668	NP_000659		deleterious(0)	1	ADH1B_HUMAN	ADH1B	HGNC	P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	F5HB16_HUMAN,B7ZB36_HUMAN,A8MYN5_HUMAN		7	1027	-			UPI00001699B5	315					SNV	ADH1B,missense_variant,p.Trp315Gly,ENST00000305046,;ADH1B,missense_variant,p.Trp275Gly,ENST00000394887,NM_000668.4,NM_001286650.1;ADH1B,3_prime_UTR_variant,,ENST00000506651,;ADH1B,non_coding_transcript_exon_variant,,ENST00000515694,;	uc003hus.3	c.943T>G	1011/4072	3	3			c.943T>G						4	SNP	c.(943-945)TGG>GGG	7	7			ovary(1)|breast(1)	2	Broad	class I alcohol dehydrogenase, beta subunit		Fomepizole(DB01213)|NADH(DB00157)	100232699		0.383	ENSG00000196616	307	g.chr4:100232699A>C	ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding							378.965769	KEEP	62	73	-1	67	91	62	73	-1	379.472084	67	91	0.451613	1	0	0	0	0	1	0	0	0	--	--		0	C			ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Missense_Mutation_p.W275G|ADH1B_uc011ceh.1_Missense_Mutation_p.W160G|ADH1B_uc011cei.1_Missense_Mutation_p.W275G	126	GBM-12-3650-TP	p.W315G	A	GCCCCCTTCCAGGTGCGTCCA	NM_000668	NP_000659	100232699	P00325	ADH1B_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	7	1027	-	C	C			Missense_Mutation	315						
ADH1B	0	broad.mit.edu	GRCh37	4	100239237	100239237	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-1450-01	TCGA-14-1450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305046.8:c.225G>T	p.Glu75Asp	p.E75D	ENST00000305046		75	gaG/gaT	0			1			A	E/D	uc003hus.3	protein_coding	YES	CCDS34033.1			225/1128									ovary(1)|breast(1)	2	c.(223-225)GAG>GAT			hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF376,PROSITE_patterns:PS00059,Gene3D:3.90.180.10,Pfam_domain:PF08240,SMART_domains:SM00829,Superfamily_domains:SSF50129	class I alcohol dehydrogenase, beta subunit	Fomepizole(DB01213)|NADH(DB00157)			ENSP00000306606		9-Mar									COSM3408944	9-Mar	.		ENST00000305046	Transcript	1		ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	ENSG00000196616	g.chr4:100239237C>A	250			MODERATE		2.385	medium	getma.org/?cm=msa&ty=f&p=ADH1B_HUMAN&rb=34&re=161&var=E75D	getma.org/pdb.php?prot=ADH1B_HUMAN&from=34&to=161&var=E75D	getma.org/?cm=var&var=hg19,4,100239237,C,A&fts=all	E75D	--	--	1																																		ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Missense_Mutation_p.E35D|ADH1B_uc011ceh.1_5'UTR|ADH1B_uc011cei.1_Missense_Mutation_p.E35D	1	1		possibly_damaging(0.588)	p.E75D	NM_000668	NP_000659		deleterious(0.03)	1	ADH1B_HUMAN	ADH1B	HGNC	P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	F5HB16_HUMAN,B7ZB36_HUMAN,A8MYN5_HUMAN		3	309	-			UPI00001699B5	75					SNV	ADH1B,missense_variant,p.Glu75Asp,ENST00000305046,;ADH1B,missense_variant,p.Glu35Asp,ENST00000394887,NM_000668.4,NM_001286650.1;ADH1B,non_coding_transcript_exon_variant,,ENST00000504498,;ADH1B,3_prime_UTR_variant,,ENST00000506651,;ADH1B,non_coding_transcript_exon_variant,,ENST00000515694,;	uc003hus.3	c.225G>T	293/4072	2	2			c.225G>T						4	SNP	c.(223-225)GAG>GAT	36	36			ovary(1)|breast(1)	2	Broad	class I alcohol dehydrogenase, beta subunit		Fomepizole(DB01213)|NADH(DB00157)	100239237		0.537	ENSG00000196616	307	g.chr4:100239237C>A	ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding							-71.396274	KEEP	8	6	0.428571429	171	200	8	6	0.428571429	10.750356	171	200	0.024465	1	0	0	0	0	1	0	0	0	--	--		0	A			ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Missense_Mutation_p.E35D|ADH1B_uc011ceh.1_5'UTR|ADH1B_uc011cei.1_Missense_Mutation_p.E35D	145	GBM-14-1450-TP	p.E75D	C	CTCCAACACTCTCCACGATGC	NM_000668	NP_000659	100239237	P00325	ADH1B_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	3	309	-	A	A			Missense_Mutation	75						
ADH1C	126	broad.mit.edu	GRCh37	4	100268910	100268910	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01	TCGA-06-5414-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000515683.1:c.112C>T	p.Arg38Cys	p.R38C	ENST00000515683	NM_000669.3	38	Cgc/Tgc	0			1			A	R/C	uc003huu.2	polymorphic_pseudogene	YES				112/1128										0	c.(112-114)CGC>TGC				class I alcohol dehydrogenase, gamma subunit	Fomepizole(DB01213)|NADH(DB00157)			ENSP00000426083		9-Feb	8.24E-06					1.50E-05			rs750873906	9-Feb	.	Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	ENST00000515683	Transcript			ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding	ENSG00000248144	g.chr4:100268910G>A	251			MODERATE		3.775	high	getma.org/?cm=msa&ty=f&p=ADH1G_HUMAN&rb=34&re=161&var=R38C	getma.org/pdb.php?prot=ADH1G_HUMAN&from=34&to=161&var=R38C	getma.org/?cm=var&var=hg19,4,100268910,G,A&fts=all	R38C	--	--	1																																				1		benign(0.26)	p.R38C	NM_000669	NP_000660					ADH1C	HGNC	P00326	ADH1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)			2	197	-				38					SNV	ADH1C,non_coding_transcript_exon_variant,,ENST00000510055,;ADH1C,non_coding_transcript_exon_variant,,ENST00000505942,;ADH1C,intron_variant,,ENST00000511397,;ADH1C,missense_variant,p.Arg38Cys,ENST00000515683,NM_000669.3;	uc003huu.2	c.112C>T	464/1740	1	1			c.112C>T						4	SNP	c.(112-114)CGC>TGC	62	62				0	Broad	class I alcohol dehydrogenase, gamma subunit		Fomepizole(DB01213)|NADH(DB00157)	100268910	Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	0.338	ENSG00000248144	308	g.chr4:100268910G>A	ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding							-8.865841	KEEP	2	3	-1	42	35	2	3	-1	8.317149	42	35	0.05	1	0	0	0	0	1	0	0	0	--	--		0	A				97	GBM-06-5414-TP	p.R38C	G	ACCTTAATGCGAACTTCATGA	NM_000669	NP_000660	100268910	P00326	ADH1G_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	2	197	-	A	A			Missense_Mutation	38						
ADH6	130	broad.mit.edu	GRCh37	4	100130080	100130080	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-2567-01	TCGA-06-2567-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394899.2:c.573T>C	p.Thr191=	p.T191=	ENST00000394899	NM_001102470.1	191	acT/acC	0			1			G	T	uc003hup.3	protein_coding		CCDS3647.1			573/1107									ovary(1)|kidney(1)|skin(1)	3	c.(571-573)ACT>ACC			hmmpanther:PTHR11695:SF307,hmmpanther:PTHR11695,Gene3D:3.90.180.10,SMART_domains:SM00829,Superfamily_domains:SSF51735	class V alcohol dehydrogenase isoform 2	Abacavir(DB01048)|NADH(DB00157)			ENSP00000237653		8-Jun									COSM3408942,COSM3408941	8-Jun	.		ENST00000237653	Transcript			ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	ENSG00000172955	g.chr4:100130080A>G	255			LOW								--	--	1																																		uc003hum.1_Intron|ADH6_uc003huo.2_Silent_p.T191T|ADH6_uc011cef.1_5'UTR|ADH6_uc010ile.2_Silent_p.T191T	1,1				p.T191T	NM_000672	NP_000663			1,1	ADH6_HUMAN	ADH6	HGNC	P28332	ADH6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)			6	667	-			UPI00001AE69C	191					SNV	ADH6,synonymous_variant,p.=,ENST00000394897,;ADH6,synonymous_variant,p.=,ENST00000394899,NM_001102470.1;ADH6,synonymous_variant,p.=,ENST00000237653,NM_000672.3;ADH6,synonymous_variant,p.=,ENST00000508558,;ADH6,5_prime_UTR_variant,,ENST00000407820,;RP11-696N14.1,intron_variant,,ENST00000500358,;RP11-696N14.1,intron_variant,,ENST00000506454,;RP11-696N14.1,intron_variant,,ENST00000506160,;ADH6,non_coding_transcript_exon_variant,,ENST00000504257,;ADH6,3_prime_UTR_variant,,ENST00000507484,;ADH6,upstream_gene_variant,,ENST00000512708,;	uc003hup.3	c.573T>C	958/1691	3	3			c.573T>C						4	SNP	c.(571-573)ACT>ACC	12	12			ovary(1)|kidney(1)|skin(1)	3	Broad	class V alcohol dehydrogenase isoform 2		Abacavir(DB01048)|NADH(DB00157)	100130080		0.458	ENSG00000172955	311	g.chr4:100130080A>G	ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding							-82.15074	KEEP	4	1	-1	183	204	4	1	-1	9.472928	183	204	0.01462	1	0	0	0	0	0	0	1	0	--	--		0	G			uc003hum.1_Intron|ADH6_uc003huo.2_Silent_p.T191T|ADH6_uc011cef.1_5'UTR|ADH6_uc010ile.2_Silent_p.T191T	89	GBM-06-2567-TP	p.T191T	A	TAGAACCTGGAGTCACCTAAA	NM_000672	NP_000663	100130080	P28332	ADH6_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	6	667	-	G	G			Silent	191						
ADM	0	broad.mit.edu	GRCh37	11	10327296	10327296	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-2518-01	TCGA-27-2518-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278175.5:c.49C>T	p.Leu17=	p.L17=	ENST00000278175		17	Cta/Tta	0			1			T	L	uc001mik.1	protein_coding		CCDS7801.1			49/558									central_nervous_system(1)	1	c.(49-51)CTA>TTA			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23414,hmmpanther:PTHR23414:SF3,Pfam_domain:PF00214,Prints_domain:PR00801	adrenomedullin precursor				ENSP00000278175		4-Feb									COSM2157281	4-Feb	.		ENST00000278175	Transcript			blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity	ENSG00000148926	g.chr11:10327296C>T	259			LOW								--	--	1																																		ADM_uc001mil.1_Silent_p.L17L|ADM_uc001mim.1_5'UTR	1				p.L17L	NM_001124	NP_001115			1	ADML_HUMAN	ADM	HGNC	P35318	ADML_HUMAN		all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)	E9PL83_HUMAN		1	666	+			UPI00001255F0	17					SNV	ADM,synonymous_variant,p.=,ENST00000528655,;ADM,synonymous_variant,p.=,ENST00000278175,;ADM,synonymous_variant,p.=,ENST00000525063,;ADM,synonymous_variant,p.=,ENST00000526492,;ADM,synonymous_variant,p.=,ENST00000528544,;ADM,synonymous_variant,p.=,ENST00000524948,;ADM,5_prime_UTR_variant,,ENST00000530439,NM_001124.1;ADM,5_prime_UTR_variant,,ENST00000534464,;RP11-351I24.1,upstream_gene_variant,,ENST00000526906,;AMPD3,upstream_gene_variant,,ENST00000527261,;	uc001mik.1	c.49C>T	620/1885	2	2			c.49C>T						11	SNP	c.(49-51)CTA>TTA	18	18			central_nervous_system(1)	1	Broad	adrenomedullin precursor			10327296		0.612	ENSG00000148926	320	g.chr11:10327296C>T	blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity							49.68129	KEEP	12	14	-1	45	32	12	14	-1	55.088515	45	32	0.231707	1	0	0	0	0	0	0	1	0	--	--		0	T			ADM_uc001mil.1_Silent_p.L17L|ADM_uc001mim.1_5'UTR	198	GBM-27-2518-TP	p.L17L	C	GCTCGCCTTCCTAGGCGCTGA	NM_001124	NP_001115	10327296	P35318	ADML_HUMAN	0		all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)	1	666	+	T	T			Silent	17						
ADM2	79924		GRCh37	22	50921222	50921222	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000395738.2:c.337G>A	p.Gly113Ser	p.G113S	ENST00000395738	NM_024866.5	113	Ggc/Agc	0																																																																																																																																																																																																																																												
ADNP	0	broad.mit.edu	GRCh37	20	49508976	49508976	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-5960-01	TCGA-19-5960-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000349014.3:c.2275C>A	p.His759Asn	p.H759N	ENST00000349014	NM_001282532.1	759	Cat/Aat	0			1			T	H/N	uc002xvt.1	protein_coding		CCDS13433.1			2275/3309									ovary(2)	2	c.(2275-2277)CAT>AAT			hmmpanther:PTHR15740,hmmpanther:PTHR15740:SF1,SMART_domains:SM00389	activity-dependent neuroprotector				ENSP00000342905		4-Apr									COSM3405184	4-Apr	.		ENST00000349014	Transcript	1			nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000101126	g.chr20:49508976G>T	15766			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=ADNP_HUMAN&rb=601&re=764&var=H759N	NA	getma.org/?cm=var&var=hg19,20,49508976,G,T&fts=all	H759N	--	--	1																																		ADNP_uc002xvu.1_Missense_Mutation_p.H759N	1			benign(0.099)	p.H759N	NM_015339	NP_056154		deleterious(0.03)	1	ADNP_HUMAN	ADNP	HGNC	Q9H2P0	ADNP_HUMAN			E9PQK8_HUMAN		5	2620	-			UPI00000375B9	759			Homeobox.		SNV	ADNP,missense_variant,p.His759Asn,ENST00000396029,NM_015339.2,NM_001282531.1;ADNP,missense_variant,p.His759Asn,ENST00000371602,;ADNP,missense_variant,p.His759Asn,ENST00000349014,NM_001282532.1;ADNP,missense_variant,p.His759Asn,ENST00000396032,NM_181442.1;ADNP,downstream_gene_variant,,ENST00000534467,;	uc002xvt.1	c.2275C>A	2572/5963	2	2			c.2275C>A						20	SNP	c.(2275-2277)CAT>AAT	24	24			ovary(2)	2	Broad	activity-dependent neuroprotector			49508976		0.418	ENSG00000101126	322	g.chr20:49508976G>T		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							126.707235	KEEP	24	23	0.510638298	21	28	24	23	0.510638298	126.717449	21	28	0.488636	1	0	0	0	0	1	0	0	0	--	--		0	T			ADNP_uc002xvu.1_Missense_Mutation_p.H759N	178	GBM-19-5960-TP	p.H759N	G	TCATCTTCATGACCCTTGGGG	NM_015339	NP_056154	49508976	Q9H2P0	ADNP_HUMAN	0			5	2620	-	T	T			Missense_Mutation	759			Homeobox.			
ADNP2	22850		GRCh37	18	77893797	77893797	+	stop_gained	Nonsense_Mutation	SNP	C	C	G			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000262198.4:c.501C>G	p.Tyr167Ter	p.Y167*	ENST00000262198	NM_014913.3	167	taC/taG	0																																																																																																																																																																																																																																												
ADO	0	broad.mit.edu	GRCh37	10	64564912	64564912	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373783.1:c.93C>T	p.Ser31=	p.S31=	ENST00000373783	NM_032804.5	31	tcC/tcT	0			1			T	S	uc001jmg.2	protein_coding	YES	CCDS7266.2			93/813										0	c.(91-93)TCC>TCT			Low_complexity_(Seg):seg	2-aminoethanethiol (cysteamine) dioxygenase				ENSP00000362888		1-Jan									COSM3397203	1-Jan	.		ENST00000373783	Transcript					cysteamine dioxygenase activity|metal ion binding	ENSG00000181915	g.chr10:64564912C>T	23506			LOW								--	--	1																																			1	1			p.S31S	NM_032804	NP_116193			1	AEDO_HUMAN	ADO	HGNC	Q96SZ5	AEDO_HUMAN					1	397	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		UPI00001F8D78	31					SNV	ADO,synonymous_variant,p.=,ENST00000373783,NM_032804.5;RP11-436D10.3,intron_variant,,ENST00000425290,;	uc001jmg.2	c.93C>T	397/3723	2	2			c.93C>T						10	SNP	c.(91-93)TCC>TCT	21	21				0	Broad	2-aminoethanethiol (cysteamine) dioxygenase			64564912		0.711	ENSG00000181915	324	g.chr10:64564912C>T			cysteamine dioxygenase activity|metal ion binding							36.769056	KEEP	2	14	-1	0	1	2	14	-1	36.768077	0	1	1	1	0	0	0	0	0	0	1	0	--	--		0	T				269	GBM-76-4929-TP	p.S31S	C	GCGGCGCTTCCGATCGCGACG	NM_032804	NP_116193	64564912	Q96SZ5	AEDO_HUMAN	0			1	397	+	T	T	Prostate(12;0.0297)|all_hematologic(501;0.228)		Silent	31						
ADPGK	83440	broad.mit.edu	GRCh37	15	73044826	73044827	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0174-01	TCGA-06-0174-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311669.8:c.1346dup	p.Pro450AlafsTer21	p.P450Afs*21	ENST00000311669	NM_031284.4	449	aag/aaAg	0			1			T	K/KX	uc002avg.3	protein_coding	YES	CCDS42057.1			1346-1347/1491										0	c.(1348-1350)AAGfs			PROSITE_profiles:PS51255,hmmpanther:PTHR21208,hmmpanther:PTHR21208:SF0,Gene3D:3.40.1190.20,Pfam_domain:PF04587,Superfamily_domains:SSF53613	ADP-dependent glucokinase				ENSP00000312250		7-Jul	4.14E-05				0.000306	3.01E-05			rs778266594	7-Jul	.		ENST00000311669	Transcript			glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding	ENSG00000159322	g.chr15:73044826_73044827insT	25250			HIGH								--	--	1																																		ADPGK_uc002ave.3_Frame_Shift_Ins_p.K175fs|ADPGK_uc010ukw.1_Frame_Shift_Ins_p.K392fs|ADPGK_uc002avf.3_Frame_Shift_Ins_p.K449fs|ADPGK_uc002avi.3_Frame_Shift_Ins_p.K327fs|ADPGK_uc002avh.3_Frame_Shift_Ins_p.K211fs		1			p.K450fs	NM_031284	NP_112574				ADPGK_HUMAN	ADPGK	HGNC	Q9BRR6	ADPGK_HUMAN			Q69YR1_HUMAN,H3BU35_HUMAN,H3BTH4_HUMAN		7	1443_1444	-			UPI0000039E98	450			ADPK.		insertion	ADPGK,frameshift_variant,p.Pro450AlafsTer21,ENST00000311669,NM_031284.4;ADPGK,frameshift_variant,p.Pro176AlafsTer21,ENST00000456471,;ADPGK,3_prime_UTR_variant,,ENST00000563907,;ADPGK,downstream_gene_variant,,ENST00000565814,;ADPGK,downstream_gene_variant,,ENST00000567733,;ADPGK,3_prime_UTR_variant,,ENST00000567941,;ADPGK,3_prime_UTR_variant,,ENST00000569534,;ADPGK,3_prime_UTR_variant,,ENST00000569693,;ADPGK,non_coding_transcript_exon_variant,,ENST00000562621,;ADPGK,downstream_gene_variant,,ENST00000569517,;	uc002avg.3	c.1349_1350insA	1440-1441/2557	5	5			c.1349_1350insA						15	INS	c.(1348-1350)AAGfs	29	29				0	Broad	ADP-dependent glucokinase			73044827		0.49	ENSG00000159322	329	g.chr15:73044826_73044827insT	glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding																				0.04	1	0	0	1	1	0	0	0	0	--	--		0	T			ADPGK_uc002ave.3_Frame_Shift_Ins_p.K175fs|ADPGK_uc010ukw.1_Frame_Shift_Ins_p.K392fs|ADPGK_uc002avf.3_Frame_Shift_Ins_p.K449fs|ADPGK_uc002avi.3_Frame_Shift_Ins_p.K327fs|ADPGK_uc002avh.3_Frame_Shift_Ins_p.K211fs	37	GBM-06-0174-TP	p.K450fs	-	CTACTACTGGCTTGTTTGGGTT	NM_031284	NP_112574	73044826	Q9BRR6	ADPGK_HUMAN	0			7	1443_1444	-	T	T			Frame_Shift_Ins	450			ADPK.			
ADPRHL1	0	broad.mit.edu	GRCh37	13	114079397	114079397	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-1825-01	TCGA-14-1825-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375418.3:c.744C>T	p.Pro248=	p.P248=	ENST00000375418	NM_138430.3	248	ccC/ccT	0	A:0	A:0	1	A:0.0014		A	P	uc001vtq.1	protein_coding	YES	CCDS9535.1			744/1065										0	c.(742-744)CCC>CCT			hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF232,Pfam_domain:PF03747,PIRSF_domain:PIRSF016939,Superfamily_domains:0043888	ADP-ribosylhydrolase like 1 isoform 1		A:0.001	A:0.0001	ENSP00000364567	A:0	7-May	0.000206		0.000173	0.000116		0.000304		0.000121	rs370042842,COSM3399253	7-May	.		ENST00000375418	Transcript		A:0.0004	protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	ENSG00000153531	g.chr13:114079397G>A	21303			LOW								--	--	1																																		ADPRHL1_uc001vtp.1_Silent_p.P166P	0,1	1			p.P248P	NM_138430	NP_612439	A:0		0,1	ARHL1_HUMAN	ADPRHL1	HGNC	Q8NDY3	ARHL1_HUMAN	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)				5	831	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	UPI000004A1F3	248					SNV	ADPRHL1,synonymous_variant,p.=,ENST00000356501,NM_199162.1;ADPRHL1,synonymous_variant,p.=,ENST00000375418,NM_138430.3;ADPRHL1,synonymous_variant,p.=,ENST00000413169,;	uc001vtq.1	c.744C>T	831/1341	2	2			c.744C>T						13	SNP	c.(742-744)CCC>CCT	35	35				0	Broad	ADP-ribosylhydrolase like 1 isoform 1			114079397		0.299	ENSG00000153531	331	g.chr13:114079397G>A	protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding							191.880694	KEEP	40	30	-1	56	41	40	30	-1	193.035487	56	41	0.405405	1	0	0	0	0	0	0	1	0	--	--		0	A			ADPRHL1_uc001vtp.1_Silent_p.P166P	148	GBM-14-1825-TP	p.P248P	G	CATAATTGTCGGGGAAGATGG	NM_138430	NP_612439	114079397	Q8NDY3	ARHL1_HUMAN	0	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)		5	831	-	A	A	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	Silent	248						
ADPRHL1	0	broad.mit.edu	GRCh37	13	114107590	114107590	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149499588		TCGA-26-5136-01	TCGA-26-5136-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375418.3:c.163G>A	p.Val55Met	p.V55M	ENST00000375418	NM_138430.3	55	Gtg/Atg	0	T:0.0002		1			T	V/M	uc001vtq.1	protein_coding	YES	CCDS9535.1			163/1065										0	c.(163-165)GTG>ATG			Pfam_domain:PF03747,PIRSF_domain:PIRSF016939,Superfamily_domains:0043888	ADP-ribosylhydrolase like 1 isoform 1			T:0.0002	ENSP00000364567		7-Jan	0.000189	0.000289				0.00024		0.000242	rs149499588,COSM3399254	7-Jan	.		ENST00000375418	Transcript			protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	ENSG00000153531	g.chr13:114107590C>T	21303			MODERATE		2.16	medium	getma.org/?cm=msa&ty=f&p=ARHL1_HUMAN&rb=6&re=329&var=V55M	getma.org/pdb.php?prot=ARHL1_HUMAN&from=6&to=329&var=V55M	getma.org/?cm=var&var=hg19,13,114107590,C,T&fts=all	V55M	--	--	1																																			0,1	1		probably_damaging(0.979)	p.V55M	NM_138430	NP_612439		deleterious(0)	0,1	ARHL1_HUMAN	ADPRHL1	HGNC	Q8NDY3	ARHL1_HUMAN	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)				1	250	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	UPI000004A1F3	55					SNV	ADPRHL1,missense_variant,p.Val55Met,ENST00000375418,NM_138430.3;DCUN1D2,downstream_gene_variant,,ENST00000332592,;DCUN1D2,downstream_gene_variant,,ENST00000478244,NM_001014283.1;ADPRHL1,upstream_gene_variant,,ENST00000356501,NM_199162.1;ADPRHL1,upstream_gene_variant,,ENST00000413169,;DCUN1D2,downstream_gene_variant,,ENST00000375403,;DCUN1D2,downstream_gene_variant,,ENST00000482038,;	uc001vtq.1	c.163G>A	250/1341	1	1			c.163G>A						13	SNP	c.(163-165)GTG>ATG	1	1				0	Broad	ADP-ribosylhydrolase like 1 isoform 1			114107590		0.632	ENSG00000153531	331	g.chr13:114107590C>T	protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding							-22.597709	KEEP	4	1	-1	67	69	4	1	-1	6.478125	67	69	0.032787	1	0	0	0	0	1	0	0	0	--	--		0	T				185	GBM-26-5136-TP	p.V55M	C	TTGTCACTCACGGGCCATTCT	NM_138430	NP_612439	114107590	Q8NDY3	ARHL1_HUMAN	0	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)		1	250	-	T	T	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	Missense_Mutation	55						
ADRA1B	147	broad.mit.edu	GRCh37	5	159344026	159344026	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0876-01	TCGA-06-0876-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306675.3:c.114C>T	p.Pro38=	p.P38=	ENST00000306675	NM_000679.3	38	ccC/ccT	0			1			T	P	uc003lxt.1	protein_coding	YES	CCDS4347.1			114/1563									lung(1)	1	c.(112-114)CCC>CCT			hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF17,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00556	alpha-1B-adrenergic receptor	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)			ENSP00000306662		2-Jan									COSM2152101	2-Jan	.		ENST00000306675	Transcript			cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity	ENSG00000170214	g.chr5:159344026C>T	278			LOW								--	--	1																																			1	1			p.P38P	NM_000679	NP_000670			1	ADA1B_HUMAN	ADRA1B	HGNC	P35368	ADA1B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)				1	287	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	UPI000003B079	38			Extracellular (By similarity).		SNV	ADRA1B,synonymous_variant,p.=,ENST00000306675,NM_000679.3;	uc003lxt.1	c.114C>T	237/1738	1	1			c.114C>T						5	SNP	c.(112-114)CCC>CCT	9	9			lung(1)	1	Broad	alpha-1B-adrenergic receptor		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	159344026		0.587	ENSG00000170214	334	g.chr5:159344026C>T	cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity							263.290306	KEEP	48	43	-1	81	51	48	43	-1	264.762551	81	51	0.408867	1	0	0	0	0	0	0	1	0	--	--		0	T				72	GBM-06-0876-TP	p.P38P	C	CCACACTGCCCCAGCTGGACA	NM_000679	NP_000670	159344026	P35368	ADA1B_HUMAN	0	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	287	+	T	T	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Silent	38			Extracellular (By similarity).			
ADRA2C	152	broad.mit.edu	GRCh37	4	3769412	3769412	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01	TCGA-02-0055-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330055.5:c.1079G>A	p.Arg360Gln	p.R360Q	ENST00000330055	NM_000683.3	360	cGg/cAg	0			1			A	R/Q	uc003ghm.2	protein_coding	YES	CCDS47004.1			1079/1389										0	c.(1078-1080)CGG>CAG			Low_complexity_(Seg):seg,PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF25,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00560	alpha-2C-adrenergic receptor	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)			ENSP00000386069		1-Jan									COSM1055073	1-Jan	.		ENST00000330055	Transcript			activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity	ENSG00000184160	g.chr4:3769412G>A	283			MODERATE		1.795	low	getma.org/?cm=msa&ty=f&p=ADA2C_HUMAN&rb=68&re=437&var=R360Q	getma.org/pdb.php?prot=ADA2C_HUMAN&from=68&to=437&var=R360Q	getma.org/?cm=var&var=hg19,4,3769412,G,A&fts=all	R360Q	--	--	1																																		ADRA2C_uc010icx.2_Intron	1	1		benign(0.067)	p.R360Q	NM_000683	NP_000674		tolerated(0.43)	1	ADA2C_HUMAN	ADRA2C	HGNC	P18825	ADA2C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Q4W594_HUMAN		1	1117	+			UPI000012500C	360			Cytoplasmic (By similarity).		SNV	ADRA2C,missense_variant,p.Arg360Gln,ENST00000330055,NM_000683.3;ADRA2C,intron_variant,,ENST00000509482,;AC141928.1,upstream_gene_variant,,ENST00000511928,;	uc003ghm.2	c.1079G>A	1288/2127	2	2			c.1079G>A						4	SNP	c.(1078-1080)CGG>CAG	43	43				0	Broad	alpha-2C-adrenergic receptor		Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	3769412		0.726	ENSG00000184160	338	g.chr4:3769412G>A	activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity	Esophageal Squamous(12;454 628 4517 14479)			Esophageal Squamous(12;454 628 4517 14479)			40.928522	KEEP	10	5	-1	9	15	10	5	-1	41.287492	9	15	0.388889	1	0	0	0	0	1	0	0	0	--	--		0	A			ADRA2C_uc010icx.2_Intron	4	GBM-02-0055-TP	p.R360Q	G	CTGTCGCGCCGGCGCCGGGCG	NM_000683	NP_000674	3769412	P18825	ADA2C_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	1117	+	A	A			Missense_Mutation	360			Cytoplasmic (By similarity).			
ADRA2C	152	broad.mit.edu	GRCh37	4	3768581	3768581	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0126-01	TCGA-06-0126-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330055.5:c.248G>A	p.Arg83His	p.R83H	ENST00000330055	NM_000683.3	83	cGc/cAc	0			1			A	R/H	uc003ghm.2	protein_coding	YES	CCDS47004.1			248/1389										0	c.(247-249)CGC>CAC			PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF25,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	alpha-2C-adrenergic receptor	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)			ENSP00000386069		1-Jan									COSM3409265	1-Jan	.		ENST00000330055	Transcript			activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity	ENSG00000184160	g.chr4:3768581G>A	283			MODERATE		1.27	low	getma.org/?cm=msa&ty=f&p=ADA2C_HUMAN&rb=68&re=437&var=R83H	getma.org/pdb.php?prot=ADA2C_HUMAN&from=68&to=437&var=R83H	getma.org/?cm=var&var=hg19,4,3768581,G,A&fts=all	R83H	--	--	1																																		ADRA2C_uc010icx.2_Missense_Mutation_p.R83H	1	1		probably_damaging(0.987)	p.R83H	NM_000683	NP_000674		deleterious(0.03)	1	ADA2C_HUMAN	ADRA2C	HGNC	P18825	ADA2C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Q4W594_HUMAN		1	286	+			UPI000012500C	83			Cytoplasmic (By similarity).		SNV	ADRA2C,missense_variant,p.Arg83His,ENST00000330055,NM_000683.3;ADRA2C,missense_variant,p.Arg83His,ENST00000509482,;AC141928.1,upstream_gene_variant,,ENST00000511928,;	uc003ghm.2	c.248G>A	457/2127	2	2			c.248G>A						4	SNP	c.(247-249)CGC>CAC	22	22				0	Broad	alpha-2C-adrenergic receptor		Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	3768581		0.677	ENSG00000184160	338	g.chr4:3768581G>A	activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity	Esophageal Squamous(12;454 628 4517 14479)			Esophageal Squamous(12;454 628 4517 14479)			16.543577	KEEP	4	2	-1	4	11	4	2	-1	17.257545	4	11	0.3	1	0	0	0	0	1	0	0	0	--	--		0	A			ADRA2C_uc010icx.2_Missense_Mutation_p.R83H	13	GBM-06-0126-TP	p.R83H	G	CGGGCGCTGCGCGCGCCACAG	NM_000683	NP_000674	3768581	P18825	ADA2C_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	286	+	A	A			Missense_Mutation	83			Cytoplasmic (By similarity).			
ADRB1	153	broad.mit.edu	GRCh37	10	115804336	115804336	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6388-01	TCGA-06-6388-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369295.2:c.445C>T	p.Leu149=	p.L149=	ENST00000369295	NM_000684.2	149	Ctg/Ttg	0			1			T	L	uc001lba.2	protein_coding	YES	CCDS7586.1			445/1434										0	c.(445-447)CTG>TTG			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF54,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	beta-1-adrenergic receptor	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)			ENSP00000358301		1-Jan									COSM3396922	1-Jan	.		ENST00000369295	Transcript	1		positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity	ENSG00000043591	g.chr10:115804336C>T	285			LOW								--	--	1																																			1	1			p.L149L	NM_000684	NP_000675			1	ADRB1_HUMAN	ADRB1	HGNC	P08588	ADRB1_HUMAN		Epithelial(162;0.0124)|all cancers(201;0.0298)			1	531	+		Colorectal(252;0.172)|Breast(234;0.188)	UPI00000503EC	149			Helical; Name=3; (By similarity).		SNV	ADRB1,synonymous_variant,p.=,ENST00000369295,NM_000684.2;	uc001lba.2	c.445C>T	531/2862	1	1			c.445C>T						10	SNP	c.(445-447)CTG>TTG	2	2				0	Broad	beta-1-adrenergic receptor		Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	115804336		0.577	ENSG00000043591	339	g.chr10:115804336C>T	positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity							171.505245	KEEP	29	37	-1	22	34	29	37	-1	171.585001	22	34	0.530612	1	0	0	0	0	0	0	1	0	--	--		0	T				104	GBM-06-6388-TP	p.L149L	C	CATCGAGACCCTGTGTGTCAT	NM_000684	NP_000675	115804336	P08588	ADRB1_HUMAN	0		Epithelial(162;0.0124)|all cancers(201;0.0298)	1	531	+	T	T		Colorectal(252;0.172)|Breast(234;0.188)	Silent	149			Helical; Name=3; (By similarity).			
ADRBK2	0	broad.mit.edu	GRCh37	22	26117315	26117315	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01	TCGA-28-5207-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324198.6:c.1856G>A	p.Cys619Tyr	p.C619Y	ENST00000324198	NM_005160.3	619	tGc/tAc	0			1			A	C/Y	uc003abx.3	protein_coding	YES	CCDS13832.1			1856/2067									lung(3)|ovary(2)|stomach(1)|central_nervous_system(1)	7	c.(1855-1857)TGC>TAC			PROSITE_profiles:PS50003,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	beta-adrenergic receptor kinase 2	Adenosine triphosphate(DB00171)			ENSP00000317578		20/21									COSM2157320	20/21	.		ENST00000324198	Transcript					ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	ENSG00000100077	g.chr22:26117315G>A	290			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=ARBK2_HUMAN&rb=559&re=652&var=C619Y	getma.org/pdb.php?prot=ARBK2_HUMAN&from=559&to=652&var=C619Y	getma.org/?cm=var&var=hg19,22,26117315,G,A&fts=all	C619Y	--	--	1																																		ADRBK2_uc003aby.3_RNA	1	1		probably_damaging(0.99)	p.C619Y	NM_005160	NP_005151		deleterious_low_confidence(0.03)	1	ARBK2_HUMAN	ADRBK2	HGNC	P35626	ARBK2_HUMAN			Q8N433_HUMAN		20	2003	+			UPI0000050EDB	619			PH.		SNV	ADRBK2,missense_variant,p.Cys619Tyr,ENST00000324198,NM_005160.3;	uc003abx.3	c.1856G>A	2048/9103	1	1			c.1856G>A						22	SNP	c.(1855-1857)TGC>TAC	53	53			lung(3)|ovary(2)|stomach(1)|central_nervous_system(1)	7	Broad	beta-adrenergic receptor kinase 2		Adenosine triphosphate(DB00171)	26117315		0.274	ENSG00000100077	343	g.chr22:26117315G>A			ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			345			345	131.900147	KEEP	25	24	-1	15	25	25	24	-1	132.122179	15	25	0.556962	1	0	0	0	0	1	0	0	0	--	--		0	A			ADRBK2_uc003aby.3_RNA	216	GBM-28-5207-TP	p.C619Y	G	GACAAAAAATGCATTTTGTTC	NM_005160	NP_005151	26117315	P35626	ARBK2_HUMAN	0			20	2003	+	A	A			Missense_Mutation	619			PH.			
ADRBK2	0	broad.mit.edu	GRCh37	22	26086159	26086159	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324198.6:c.961G>A	p.Ala321Thr	p.A321T	ENST00000324198	NM_005160.3	321	Gca/Aca	0			1			A	A/T	uc003abx.3	protein_coding	YES	CCDS13832.1			961/2067									lung(3)|ovary(2)|stomach(1)|central_nervous_system(1)	7	c.(961-963)GCA>ACA			PROSITE_profiles:PS50011,hmmpanther:PTHR24355:SF17,hmmpanther:PTHR24355,PROSITE_patterns:PS00108,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	beta-adrenergic receptor kinase 2	Adenosine triphosphate(DB00171)			ENSP00000317578		21-Dec									COSM3405559	21-Dec	.		ENST00000324198	Transcript					ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	ENSG00000100077	g.chr22:26086159G>A	290			MODERATE		1.505	low	getma.org/?cm=msa&ty=f&p=ARBK2_HUMAN&rb=191&re=453&var=A321T	getma.org/pdb.php?prot=ARBK2_HUMAN&from=191&to=453&var=A321T	getma.org/?cm=var&var=hg19,22,26086159,G,A&fts=all	A321T	--	--	1																																		ADRBK2_uc010gux.2_Missense_Mutation_p.A321T|ADRBK2_uc003abw.2_Missense_Mutation_p.A208T|ADRBK2_uc003aby.3_RNA	1	1		probably_damaging(0.954)	p.A321T	NM_005160	NP_005151		deleterious(0.01)	1	ARBK2_HUMAN	ADRBK2	HGNC	P35626	ARBK2_HUMAN			Q8N433_HUMAN		12	1108	+			UPI0000050EDB	321			Protein kinase.		SNV	ADRBK2,missense_variant,p.Ala321Thr,ENST00000324198,NM_005160.3;	uc003abx.3	c.961G>A	1153/9103	1	1			c.961G>A						22	SNP	c.(961-963)GCA>ACA	63	63			lung(3)|ovary(2)|stomach(1)|central_nervous_system(1)	7	Broad	beta-adrenergic receptor kinase 2		Adenosine triphosphate(DB00171)	26086159		0.398	ENSG00000100077	343	g.chr22:26086159G>A			ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			345			345	-5.326837	KEEP	5	0	-1	28	31	5	0	-1	6.732218	28	31	0.052632	1	0	0	0	0	1	0	0	0	--	--		0	A			ADRBK2_uc010gux.2_Missense_Mutation_p.A321T|ADRBK2_uc003abw.2_Missense_Mutation_p.A208T|ADRBK2_uc003aby.3_RNA	235	GBM-32-2491-TP	p.A321T	G	TGTTTAGCCAGCAAATATTCT	NM_005160	NP_005151	26086159	P35626	ARBK2_HUMAN	0			12	1108	+	A	A			Missense_Mutation	321			Protein kinase.			
AEBP1	0	broad.mit.edu	GRCh37	7	44148536	44148536	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01	TCGA-16-0846-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000223357.3:c.979G>A	p.Asp327Asn	p.D327N	ENST00000223357	NM_001129.4	327	Gat/Aat	0			1			A	D/N	uc003tkb.2	protein_coding	YES	CCDS5476.1			979/3477										0	c.(979-981)GAT>AAT			hmmpanther:PTHR11532:SF48,hmmpanther:PTHR11532	adipocyte enhancer binding protein 1 precursor				ENSP00000223357		21-Jul	8.26E-06								rs769957543,COSM3412076	21-Jul	.		ENST00000223357	Transcript			cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000106624	g.chr7:44148536G>A	303			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=AEBP1_HUMAN&rb=161&re=369&var=D327N	NA	getma.org/?cm=var&var=hg19,7,44148536,G,A&fts=all	D327N	--	--	1																																		AEBP1_uc003tkc.3_5'Flank|AEBP1_uc003tkd.2_5'Flank	0,1	1		benign(0.005)	p.D327N	NM_001129	NP_001120		tolerated_low_confidence(0.05)	0,1	AEBP1_HUMAN	AEBP1	HGNC	Q8IUX7	AEBP1_HUMAN			B4DJB3_HUMAN		7	1284	+			UPI00000746E2	327					SNV	AEBP1,missense_variant,p.Asp327Asn,ENST00000223357,NM_001129.4;AEBP1,missense_variant,p.Asp220Asn,ENST00000455443,;AEBP1,upstream_gene_variant,,ENST00000450684,;AEBP1,downstream_gene_variant,,ENST00000449162,;MIR4649,upstream_gene_variant,,ENST00000582839,;AEBP1,upstream_gene_variant,,ENST00000454218,;AEBP1,missense_variant,p.Asp3Asn,ENST00000453052,;AEBP1,upstream_gene_variant,,ENST00000413907,;AEBP1,upstream_gene_variant,,ENST00000431035,;AEBP1,upstream_gene_variant,,ENST00000434445,;	uc003tkb.2	c.979G>A	1284/4081	1	1			c.979G>A						7	SNP	c.(979-981)GAT>AAT	61	61				0	Broad	adipocyte enhancer binding protein 1 precursor			44148536		0.652	ENSG00000106624	348	g.chr7:44148536G>A	cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding							23.394486	KEEP	3	5	-1	4	12	3	5	-1	23.754217	4	12	0.363636	1	0	0	0	0	1	0	0	0	--	--		0	A			AEBP1_uc003tkc.3_5'Flank|AEBP1_uc003tkd.2_5'Flank	155	GBM-16-0846-TP	p.D327N	G	CCAGAAGCCCGATGCTGAGCG	NM_001129	NP_001120	44148536	Q8IUX7	AEBP1_HUMAN	0			7	1284	+	A	A			Missense_Mutation	327						
AEBP1	0	broad.mit.edu	GRCh37	7	44146386	44146386	+	synonymous_variant	Silent	SNP	G	G	A	rs144974496		TCGA-28-5209-01	TCGA-28-5209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000223357.3:c.495G>A	p.Pro165=	p.P165=	ENST00000223357	NM_001129.4	165	ccG/ccA	0	A:0		1			A	P	uc003tkb.2	protein_coding	YES	CCDS5476.1			495/3477										0	c.(493-495)CCG>CCA			Low_complexity_(Seg):seg	adipocyte enhancer binding protein 1 precursor			A:0.0001	ENSP00000223357		21-Feb	0.000149		0.000107			0.000321			rs144974496,COSM3230760	21-Feb	.		ENST00000223357	Transcript			cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000106624	g.chr7:44146386G>A	303			LOW								--	--	1																																			0,1	1			p.P165P	NM_001129	NP_001120			0,1	AEBP1_HUMAN	AEBP1	HGNC	Q8IUX7	AEBP1_HUMAN			B4DJB3_HUMAN		2	800	+			UPI00000746E2	165			Pro-rich.		SNV	AEBP1,synonymous_variant,p.=,ENST00000223357,NM_001129.4;AEBP1,synonymous_variant,p.=,ENST00000455443,;AEBP1,synonymous_variant,p.=,ENST00000449162,;AEBP1,upstream_gene_variant,,ENST00000450684,;MIR4649,upstream_gene_variant,,ENST00000582839,;AEBP1,upstream_gene_variant,,ENST00000454218,;AEBP1,upstream_gene_variant,,ENST00000413907,;AEBP1,upstream_gene_variant,,ENST00000431035,;AEBP1,upstream_gene_variant,,ENST00000453052,;AEBP1,upstream_gene_variant,,ENST00000434445,;	uc003tkb.2	c.495G>A	800/4081	2	2			c.495G>A						7	SNP	c.(493-495)CCG>CCA	44	44				0	Broad	adipocyte enhancer binding protein 1 precursor			44146386		0.652	ENSG00000106624	348	g.chr7:44146386G>A	cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding							75.909673	KEEP	9	21	-1	23	29	9	21	-1	76.540371	23	29	0.397059	1	0	0	0	0	0	0	1	0	--	--		0	A				218	GBM-28-5209-TP	p.P165P	G	AGAAGCCCCCGTCAGGGAAGA	NM_001129	NP_001120	44146386	Q8IUX7	AEBP1_HUMAN	0			2	800	+	A	A			Silent	165			Pro-rich.			
AFAP1	60312	broad.mit.edu	GRCh37	4	7802222	7802222	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01	TCGA-06-0173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000420658.1:c.1213C>T	p.His405Tyr	p.H405Y	ENST00000420658	NM_001134647.1	405	Cat/Tat	0			1			A	H/Y	uc003gkg.1	protein_coding		CCDS3397.1			1213/2193										0	c.(1213-1215)CAT>TAT			Gene3D:2.30.29.30,Pfam_domain:PF00169,PROSITE_profiles:PS50003,hmmpanther:PTHR14338,hmmpanther:PTHR14338:SF8,SMART_domains:SM00233,Superfamily_domains:SSF50729	actin filament associated protein 1				ENSP00000351245		17-Oct									COSM3409504,COSM3409503	17-Oct	.		ENST00000358461	Transcript				actin cytoskeleton|cytoplasm|focal adhesion	actin binding	ENSG00000196526	g.chr4:7802222G>A	24017			MODERATE		2.72	medium	getma.org/?cm=msa&ty=f&p=AFAP1_HUMAN&rb=348&re=440&var=H405Y	getma.org/pdb.php?prot=AFAP1_HUMAN&from=348&to=440&var=H405Y	getma.org/?cm=var&var=hg19,4,7802222,G,A&fts=all	H405Y	--	--	1																																		AFAP1_uc011bwk.1_Missense_Mutation_p.H405Y	1,1			probably_damaging(0.999)	p.H405Y	NM_198595	NP_940997		deleterious(0)	1,1	AFAP1_HUMAN	AFAP1	HGNC	Q8N556	AFAP1_HUMAN					10	1486	-			UPI0000233618	405			PH 2.		SNV	AFAP1,missense_variant,p.His405Tyr,ENST00000420658,NM_001134647.1;AFAP1,missense_variant,p.His405Tyr,ENST00000358461,NM_198595.2;AFAP1,missense_variant,p.His405Tyr,ENST00000360265,;AFAP1,missense_variant,p.His405Tyr,ENST00000382543,;AFAP1,upstream_gene_variant,,ENST00000513842,;	uc003gkg.1	c.1213C>T	1486/7516	2	2			c.1213C>T						4	SNP	c.(1213-1215)CAT>TAT	30	30				0	Broad	actin filament associated protein 1			7802222		0.547	ENSG00000196526	352	g.chr4:7802222G>A		actin cytoskeleton|cytoplasm|focal adhesion	actin binding							-8.355704	KEEP	4	0	-1	36	47	4	0	-1	7.71022	36	47	0.052632	1	0	0	0	0	1	0	0	0	--	--		0	A			AFAP1_uc011bwk.1_Missense_Mutation_p.H405Y	36	GBM-06-0173-TP	p.H405Y	G	GTCAGAGGATGTTTAGAATCC	NM_198595	NP_940997	7802222	Q8N556	AFAP1_HUMAN	0			10	1486	-	A	A			Missense_Mutation	405			PH 2.			
AFAP1L1	134265	broad.mit.edu	GRCh37	5	148687124	148687124	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0879-01	TCGA-06-0879-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296721.4:c.695G>A	p.Arg232His	p.R232H	ENST00000296721	NM_152406.2	232	cGt/cAt	0	A:0	A:0	1	A:0		A	R/H	uc003lqh.2	protein_coding	YES	CCDS34274.1			695/2307									breast(1)|pancreas(1)	2	c.(694-696)CGT>CAT			Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,Pfam_domain:PF00169,hmmpanther:PTHR14338,hmmpanther:PTHR14338:SF1,PROSITE_profiles:PS50003	actin filament associated protein 1-like 1		A:0	A:0.0001	ENSP00000296721	A:0	19-Jul	5.77E-05		8.66E-05			3.01E-05		0.000243	rs370079883,COSM1599930	19-Jul	.		ENST00000296721	Transcript		A:0.0002			protein binding	ENSG00000157510	g.chr5:148687124G>A	26714			MODERATE		2.56	medium	getma.org/?cm=msa&ty=f&p=AF1L1_HUMAN&rb=221&re=316&var=R232H	NA	getma.org/?cm=var&var=hg19,5,148687124,G,A&fts=all	R232H	--	--	1																																		AFAP1L1_uc003lqg.3_Missense_Mutation_p.R232H|AFAP1L1_uc010jgy.2_Missense_Mutation_p.R232H	0,1	1		probably_damaging(0.996)	p.R232H	NM_152406	NP_689619	A:0.001	deleterious(0)	0,1	AF1L1_HUMAN	AFAP1L1	HGNC	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				7	826	+			UPI00001C1E2F	232			PH 1.		SNV	AFAP1L1,missense_variant,p.Arg232His,ENST00000296721,NM_152406.2,NM_001146337.1;AFAP1L1,missense_variant,p.Arg232His,ENST00000515000,;AFAP1L1,non_coding_transcript_exon_variant,,ENST00000522492,;AFAP1L1,non_coding_transcript_exon_variant,,ENST00000455574,;AFAP1L1,downstream_gene_variant,,ENST00000508444,;	uc003lqh.2	c.695G>A	793/4177	2	2			c.695G>A						5	SNP	c.(694-696)CGT>CAT	32	32			breast(1)|pancreas(1)	2	Broad	actin filament associated protein 1-like 1			148687124		0.627	ENSG00000157510	353	g.chr5:148687124G>A			protein binding							57.718599	KEEP	7	17	-1	25	38	7	17	-1	60.587234	25	38	0.293333	1	0	0	0	0	1	0	0	0	--	--		0	A			AFAP1L1_uc003lqg.3_Missense_Mutation_p.R232H|AFAP1L1_uc010jgy.2_Missense_Mutation_p.R232H	75	GBM-06-0879-TP	p.R232H	G	CGGAAAAAGCGTTTCGGGCAG	NM_152406	NP_689619	148687124	Q8TED9	AF1L1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	826	+	A	A			Missense_Mutation	232			PH 1.			
AFAP1L2	84632	broad.mit.edu	GRCh37	10	116060363	116060363	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0649-01	TCGA-06-0649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304129.4:c.1629C>T	p.Val543=	p.V543=	ENST00000304129	NM_001287824.1	543	gtC/gtT	0			1			A	V	uc001lbn.2	protein_coding	YES	CCDS31286.1			1629/2457									ovary(1)|breast(1)	2	c.(1627-1629)GTC>GTT			hmmpanther:PTHR14338:SF4,hmmpanther:PTHR14338	KIAA1914 protein isoform 1				ENSP00000303042		14/19									COSM2151534	14/19	.		ENST00000304129	Transcript			inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	ENSG00000169129	g.chr10:116060363G>A	25901			LOW								--	--	1																																		AFAP1L2_uc001lbo.2_Silent_p.V543V|AFAP1L2_uc010qse.1_Silent_p.V596V|AFAP1L2_uc001lbp.2_Silent_p.V571V|AFAP1L2_uc001lbr.1_Silent_p.V543V|AFAP1L2_uc001lbm.2_Intron|AFAP1L2_uc010qsd.1_Silent_p.V109V|AFAP1L2_uc001lbq.1_Silent_p.V65V	1	1			p.V543V	NM_001001936	NP_001001936			1	AF1L2_HUMAN	AFAP1L2	HGNC	Q8N4X5	AF1L2_HUMAN		Epithelial(162;0.0219)|all cancers(201;0.0561)			14	1930	-		Colorectal(252;0.175)|Breast(234;0.231)	UPI0000071FAF	543					SNV	AFAP1L2,synonymous_variant,p.=,ENST00000369271,NM_032550.2,NM_001001936.1;AFAP1L2,synonymous_variant,p.=,ENST00000304129,NM_001287824.1;AFAP1L2,synonymous_variant,p.=,ENST00000545353,;AFAP1L2,non_coding_transcript_exon_variant,,ENST00000491814,;AFAP1L2,non_coding_transcript_exon_variant,,ENST00000486300,;	uc001lbn.2	c.1629C>T	1659/3705	2	2			c.1629C>T						10	SNP	c.(1627-1629)GTC>GTT	42	42			ovary(1)|breast(1)	2	Broad	KIAA1914 protein isoform 1			116060363		0.602	ENSG00000169129	354	g.chr10:116060363G>A	inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding							64.861004	KEEP	16	12	-1	25	21	16	12	-1	65.478404	25	21	0.4	1	0	0	0	0	0	0	1	0	--	--		0	A			AFAP1L2_uc001lbo.2_Silent_p.V543V|AFAP1L2_uc010qse.1_Silent_p.V596V|AFAP1L2_uc001lbp.2_Silent_p.V571V|AFAP1L2_uc001lbr.1_Silent_p.V543V|AFAP1L2_uc001lbm.2_Intron|AFAP1L2_uc010qsd.1_Silent_p.V109V|AFAP1L2_uc001lbq.1_Silent_p.V65V	62	GBM-06-0649-TP	p.V543V	G	GAAAGGACTTGACAGGTGTGA	NM_001001936	NP_001001936	116060363	Q8N4X5	AF1L2_HUMAN	0		Epithelial(162;0.0219)|all cancers(201;0.0561)	14	1930	-	A	A		Colorectal(252;0.175)|Breast(234;0.231)	Silent	543						
AFAP1L2	0	broad.mit.edu	GRCh37	10	116062141	116062141	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01	TCGA-27-1838-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304129.4:c.1387G>A	p.Asp463Asn	p.D463N	ENST00000304129	NM_001287824.1	463	Gat/Aat	0		T:0	1	T:0.0014		T	D/N	uc001lbn.2	protein_coding	YES	CCDS31286.1			1387/2457									ovary(1)|breast(1)	2	c.(1387-1389)GAT>AAT			hmmpanther:PTHR14338:SF4,hmmpanther:PTHR14338	KIAA1914 protein isoform 1		T:0		ENSP00000303042	T:0	19-Dec	1.65E-05		8.64E-05					6.06E-05	rs540007841,COSM3396924	19-Dec	.		ENST00000304129	Transcript		T:0.0004	inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	ENSG00000169129	g.chr10:116062141C>T	25901			MODERATE		2.075	medium	getma.org/?cm=msa&ty=f&p=AF1L2_HUMAN&rb=445&re=644&var=D463N	NA	getma.org/?cm=var&var=hg19,10,116062141,C,T&fts=all	D463N	--	--	1																																		AFAP1L2_uc001lbo.2_Missense_Mutation_p.D463N|AFAP1L2_uc010qse.1_Missense_Mutation_p.D516N|AFAP1L2_uc001lbp.2_Missense_Mutation_p.D491N|AFAP1L2_uc001lbr.1_Missense_Mutation_p.D463N|AFAP1L2_uc001lbm.2_5'Flank|AFAP1L2_uc010qsd.1_Missense_Mutation_p.D29N|AFAP1L2_uc001lbq.1_5'Flank	0,1	1		benign(0.028)	p.D463N	NM_001001936	NP_001001936	T:0.001	deleterious(0.02)	0,1	AF1L2_HUMAN	AFAP1L2	HGNC	Q8N4X5	AF1L2_HUMAN		Epithelial(162;0.0219)|all cancers(201;0.0561)			12	1688	-		Colorectal(252;0.175)|Breast(234;0.231)	UPI0000071FAF	463					SNV	AFAP1L2,missense_variant,p.Asp463Asn,ENST00000369271,NM_032550.2,NM_001001936.1;AFAP1L2,missense_variant,p.Asp463Asn,ENST00000304129,NM_001287824.1;AFAP1L2,missense_variant,p.Asp516Asn,ENST00000545353,;AFAP1L2,non_coding_transcript_exon_variant,,ENST00000486300,;AFAP1L2,upstream_gene_variant,,ENST00000491814,;	uc001lbn.2	c.1387G>A	1417/3705	1	1			c.1387G>A						10	SNP	c.(1387-1389)GAT>AAT	16	16			ovary(1)|breast(1)	2	Broad	KIAA1914 protein isoform 1			116062141		0.527	ENSG00000169129	354	g.chr10:116062141C>T	inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding							405.611373	KEEP	77	58	-1	29	32	77	58	-1	411.472602	29	32	0.693182	1	0	0	0	0	1	0	0	0	--	--		0	T			AFAP1L2_uc001lbo.2_Missense_Mutation_p.D463N|AFAP1L2_uc010qse.1_Missense_Mutation_p.D516N|AFAP1L2_uc001lbp.2_Missense_Mutation_p.D491N|AFAP1L2_uc001lbr.1_Missense_Mutation_p.D463N|AFAP1L2_uc001lbm.2_5'Flank|AFAP1L2_uc010qsd.1_Missense_Mutation_p.D29N|AFAP1L2_uc001lbq.1_5'Flank	197	GBM-27-1838-TP	p.D463N	C	GAGACCCTATCGGCATCCACA	NM_001001936	NP_001001936	116062141	Q8N4X5	AF1L2_HUMAN	0		Epithelial(162;0.0219)|all cancers(201;0.0561)	12	1688	-	T	T		Colorectal(252;0.175)|Breast(234;0.231)	Missense_Mutation	463						
AFF1	0	broad.mit.edu	GRCh37	4	88047292	88047292	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-14-1450-01	TCGA-14-1450-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307808.6:c.2594T>C	p.Leu865Pro	p.L865P	ENST00000307808	NM_005935.2	865	cTc/cCc	0			1			C	L/P	uc003hqj.3	protein_coding		CCDS3616.1			2594/3633									breast(1)	1	c.(2593-2595)CTC>CCC			Pfam_domain:PF05110,hmmpanther:PTHR10528,hmmpanther:PTHR10528:SF14	myeloid/lymphoid or mixed-lineage leukemia				ENSP00000305689		13/20	5.77E-05				0.000653	3.00E-05			rs776084271,COSM3748281	13/20	common_variant		ENST00000307808	Transcript	1			nucleus	sequence-specific DNA binding transcription factor activity	ENSG00000172493	g.chr4:88047292T>C	7135			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=AFF1_HUMAN&rb=8&re=1208&var=L865P	NA	getma.org/?cm=var&var=hg19,4,88047292,T,C&fts=all	L865P	--	--	1																																		AFF1_uc011ccz.1_Missense_Mutation_p.L872P|AFF1_uc003hqk.3_Missense_Mutation_p.L865P|AFF1_uc011cda.1_Missense_Mutation_p.L503P	0,1			unknown(0)	p.L865P	NM_005935	NP_005926		tolerated(0.18)	0,1	AFF1_HUMAN	AFF1	HGNC	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	Q712L1_HUMAN,Q14C88_HUMAN,D6RIZ5_HUMAN,D6RAU0_HUMAN		13	3001	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	UPI0000125658	865					SNV	AFF1,missense_variant,p.Leu865Pro,ENST00000307808,NM_005935.2;AFF1,missense_variant,p.Leu872Pro,ENST00000395146,NM_001166693.1;AFF1,missense_variant,p.Leu503Pro,ENST00000544085,;AFF1,downstream_gene_variant,,ENST00000503369,;	uc003hqj.3	c.2594T>C	3014/9390	3	3			c.2594T>C						4	SNP	c.(2593-2595)CTC>CCC	52	52			breast(1)	1	Broad	myeloid/lymphoid or mixed-lineage leukemia			88047292		0.577	ENSG00000172493	355	g.chr4:88047292T>C		nucleus	sequence-specific DNA binding transcription factor activity			332			332	-19.167173	KEEP	5	6	-1	68	61	5	6	-1	7.769167	68	61	0.055118	1	0	0	0	0	1	0	0	0	--	--		0	C			AFF1_uc011ccz.1_Missense_Mutation_p.L872P|AFF1_uc003hqk.3_Missense_Mutation_p.L865P|AFF1_uc011cda.1_Missense_Mutation_p.L503P	145	GBM-14-1450-TP	p.L865P	T	AAGGAAATGCTCCCCCCGCCA	NM_005935	NP_005926	88047292	P51825	AFF1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	13	3001	+	C	C		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	Missense_Mutation	865						
AFF1	0	broad.mit.edu	GRCh37	4	88048823	88048823	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01	TCGA-32-2494-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307808.6:c.2911G>A	p.Ala971Thr	p.A971T	ENST00000307808	NM_005935.2	971	Gca/Aca	0			1			A	A/T	uc003hqj.3	protein_coding		CCDS3616.1			2911/3633									breast(1)	1	c.(2911-2913)GCA>ACA			Pfam_domain:PF05110,hmmpanther:PTHR10528,hmmpanther:PTHR10528:SF14	myeloid/lymphoid or mixed-lineage leukemia				ENSP00000305689		15/20									COSM3409601	15/20	.		ENST00000307808	Transcript	1			nucleus	sequence-specific DNA binding transcription factor activity	ENSG00000172493	g.chr4:88048823G>A	7135			MODERATE		2.83	medium	getma.org/?cm=msa&ty=f&p=AFF1_HUMAN&rb=8&re=1208&var=A971T	NA	getma.org/?cm=var&var=hg19,4,88048823,G,A&fts=all	A971T	--	--	1																																		AFF1_uc011ccz.1_Missense_Mutation_p.A978T|AFF1_uc003hqk.3_Missense_Mutation_p.A971T|AFF1_uc011cda.1_Missense_Mutation_p.A609T	1			unknown(0)	p.A971T	NM_005935	NP_005926		deleterious(0)	1	AFF1_HUMAN	AFF1	HGNC	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	Q712L1_HUMAN,Q14C88_HUMAN,D6RIZ5_HUMAN,D6RAU0_HUMAN		15	3318	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	UPI0000125658	971					SNV	AFF1,missense_variant,p.Ala971Thr,ENST00000307808,NM_005935.2;AFF1,missense_variant,p.Ala978Thr,ENST00000395146,NM_001166693.1;AFF1,missense_variant,p.Ala609Thr,ENST00000544085,;AFF1,downstream_gene_variant,,ENST00000503369,;	uc003hqj.3	c.2911G>A	3331/9390	1	1			c.2911G>A						4	SNP	c.(2911-2913)GCA>ACA	54	54			breast(1)	1	Broad	myeloid/lymphoid or mixed-lineage leukemia			88048823		0.378	ENSG00000172493	355	g.chr4:88048823G>A		nucleus	sequence-specific DNA binding transcription factor activity			332			332	-29.925871	KEEP	5	0	-1	90	97	5	0	-1	7.209239	90	97	0.026667	1	0	0	0	0	1	0	0	0	--	--		0	A			AFF1_uc011ccz.1_Missense_Mutation_p.A978T|AFF1_uc003hqk.3_Missense_Mutation_p.A971T|AFF1_uc011cda.1_Missense_Mutation_p.A609T	236	GBM-32-2494-TP	p.A971T	G	CATGAGGGAGGCAAAAAAGAT	NM_005935	NP_005926	88048823	P51825	AFF1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	15	3318	+	A	A		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	Missense_Mutation	971						
AFF2	2334	broad.mit.edu	GRCh37	X	147733555	147733555	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-02-2483-01	TCGA-02-2483-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370460.2:c.83G>T	p.Arg28Met	p.R28M	ENST00000370460	NM_002025.3	28	aGg/aTg	0			1			T	R/M	uc004fcp.2	protein_coding	YES	CCDS14684.1			83/3936									ovary(3)|pancreas(2)	5	c.(82-84)AGG>ATG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10528:SF13,hmmpanther:PTHR10528,Pfam_domain:PF05110	fragile X mental retardation 2				ENSP00000359489		21-Feb									COSM3406049,COSM3406048	21-Feb	.		ENST00000370460	Transcript	1		brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	ENSG00000155966	g.chrX:147733555G>T	3776			MODERATE		1.47	low	getma.org/?cm=msa&ty=f&p=AFF2_HUMAN&rb=18&re=1309&var=R28M	NA	getma.org/?cm=var&var=hg19,X,147733555,G,T&fts=all	R28M	--	--	1																																		AFF2_uc004fco.2_Missense_Mutation_p.R28M|AFF2_uc004fcq.2_Missense_Mutation_p.R28M|AFF2_uc004fcr.2_Missense_Mutation_p.R28M|AFF2_uc011mxb.1_Missense_Mutation_p.R28M|AFF2_uc004fcs.2_Missense_Mutation_p.R28M	1,1	1		possibly_damaging(0.807)	p.R28M	NM_002025	NP_002016		deleterious(0)	1,1	AFF2_HUMAN	AFF2	HGNC	P51816	AFF2_HUMAN					2	562	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000049E130	28					SNV	AFF2,missense_variant,p.Arg28Met,ENST00000370460,NM_002025.3,NM_001169123.1;AFF2,missense_variant,p.Arg28Met,ENST00000370457,NM_001169122.1,NM_001169125.1,NM_001169124.1;AFF2,missense_variant,p.Arg28Met,ENST00000342251,;AFF2,missense_variant,p.Arg28Met,ENST00000370458,;	uc004fcp.2	c.83G>T	562/13746	1	1			c.83G>T						23	SNP	c.(82-84)AGG>ATG	8	8			ovary(3)|pancreas(2)	5	Broad	fragile X mental retardation 2			147733555		0.363	ENSG00000155966	356	g.chrX:147733555G>T	brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding							-37.335346	KEEP	2	4	0.333333333	123	99	2	4	0.333333333	10.602517	123	99	0.030303	1	0	0	0	0	1	0	0	0	--	--		0	T			AFF2_uc004fco.2_Missense_Mutation_p.R28M|AFF2_uc004fcq.2_Missense_Mutation_p.R28M|AFF2_uc004fcr.2_Missense_Mutation_p.R28M|AFF2_uc011mxb.1_Missense_Mutation_p.R28M|AFF2_uc004fcs.2_Missense_Mutation_p.R28M	6	GBM-02-2483-TP	p.R28M	G	CTTAAAAAAAGGGAATGGGAG	NM_002025	NP_002016	147733555	P51816	AFF2_HUMAN	0			2	562	+	T	T	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	28						
AFF2	2334	broad.mit.edu	GRCh37	X	147967460	147967460	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0174-01	TCGA-06-0174-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370460.2:c.1304A>G	p.Asp435Gly	p.D435G	ENST00000370460	NM_002025.3	435	gAc/gGc	0			1			G	D/G	uc004fcp.2	protein_coding	YES	CCDS14684.1			1304/3936									ovary(3)|pancreas(2)	5	c.(1303-1305)GAC>GGC			Low_complexity_(Seg):seg,hmmpanther:PTHR10528:SF13,hmmpanther:PTHR10528,Pfam_domain:PF05110	fragile X mental retardation 2				ENSP00000359489		21-Aug									COSM3406057,COSM3406056,COSM3406055	21-Aug	.		ENST00000370460	Transcript	1		brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	ENSG00000155966	g.chrX:147967460A>G	3776			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=AFF2_HUMAN&rb=18&re=1309&var=D435G	NA	getma.org/?cm=var&var=hg19,X,147967460,A,G&fts=all	D435G	--	--	1																																		AFF2_uc004fco.2_Missense_Mutation_p.D396G|AFF2_uc004fcq.2_Missense_Mutation_p.D425G|AFF2_uc004fcr.2_Missense_Mutation_p.D396G|AFF2_uc011mxb.1_Missense_Mutation_p.D400G|AFF2_uc004fcs.2_Missense_Mutation_p.D402G|AFF2_uc011mxc.1_Missense_Mutation_p.D76G	1,1,1	1		possibly_damaging(0.652)	p.D435G	NM_002025	NP_002016		deleterious(0)	1,1,1	AFF2_HUMAN	AFF2	HGNC	P51816	AFF2_HUMAN					8	1783	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000049E130	435					SNV	AFF2,missense_variant,p.Asp435Gly,ENST00000370460,NM_002025.3,NM_001169123.1;AFF2,missense_variant,p.Asp402Gly,ENST00000370457,NM_001169122.1,NM_001169125.1,NM_001169124.1;AFF2,missense_variant,p.Asp76Gly,ENST00000286437,NM_001170628.1;AFF2,missense_variant,p.Asp402Gly,ENST00000342251,;AFF2,missense_variant,p.Asp396Gly,ENST00000370458,;	uc004fcp.2	c.1304A>G	1783/13746	3	3			c.1304A>G						23	SNP	c.(1303-1305)GAC>GGC	59	59			ovary(3)|pancreas(2)	5	Broad	fragile X mental retardation 2			147967460		0.483	ENSG00000155966	356	g.chrX:147967460A>G	brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding							884.362252	KEEP	149	131	-1	15	23	149	131	-1	923.044729	15	23	0.883895	1	0	0	0	0	1	0	0	0	--	--		0	G			AFF2_uc004fco.2_Missense_Mutation_p.D396G|AFF2_uc004fcq.2_Missense_Mutation_p.D425G|AFF2_uc004fcr.2_Missense_Mutation_p.D396G|AFF2_uc011mxb.1_Missense_Mutation_p.D400G|AFF2_uc004fcs.2_Missense_Mutation_p.D402G|AFF2_uc011mxc.1_Missense_Mutation_p.D76G	37	GBM-06-0174-TP	p.D435G	A	GATGAAGATGACCTTGAGCCT	NM_002025	NP_002016	147967460	P51816	AFF2_HUMAN	0			8	1783	+	G	G	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	435						
AFF2	2334	broad.mit.edu	GRCh37	X	148072810	148072810	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0879-01	TCGA-06-0879-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370460.2:c.3884G>A	p.Arg1295His	p.R1295H	ENST00000370460	NM_002025.3	1295	cGc/cAc	0			1			A	R/H	uc004fcp.2	protein_coding	YES	CCDS14684.1			3884/3936									ovary(3)|pancreas(2)	5	c.(3883-3885)CGC>CAC			hmmpanther:PTHR10528:SF13,hmmpanther:PTHR10528,Pfam_domain:PF05110	fragile X mental retardation 2				ENSP00000359489		21/21	8.24E-06		0.000107						rs782318095,COSM1244600,COSM1244599,COSM1244598	21/21	.		ENST00000370460	Transcript	1		brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	ENSG00000155966	g.chrX:148072810G>A	3776			MODERATE		1.27	low	getma.org/?cm=msa&ty=f&p=AFF2_HUMAN&rb=18&re=1309&var=R1295H	NA	getma.org/?cm=var&var=hg19,X,148072810,G,A&fts=all	R1295H	--	--	1																																		AFF2_uc004fcq.2_Missense_Mutation_p.R1285H|AFF2_uc004fcr.2_Missense_Mutation_p.R1256H|AFF2_uc011mxb.1_Missense_Mutation_p.R1260H|AFF2_uc004fcs.2_Missense_Mutation_p.R1260H|AFF2_uc011mxc.1_Missense_Mutation_p.R936H	0,1,1,1	1		possibly_damaging(0.653)	p.R1295H	NM_002025	NP_002016		deleterious(0.04)	0,1,1,1	AFF2_HUMAN	AFF2	HGNC	P51816	AFF2_HUMAN					21	4363	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000049E130	1295					SNV	AFF2,missense_variant,p.Arg1295His,ENST00000370460,NM_002025.3,NM_001169123.1;AFF2,missense_variant,p.Arg1260His,ENST00000370457,NM_001169122.1,NM_001169125.1,NM_001169124.1;AFF2,missense_variant,p.Arg936His,ENST00000286437,NM_001170628.1;AFF2,missense_variant,p.Arg1262His,ENST00000342251,;	uc004fcp.2	c.3884G>A	4363/13746	2	2			c.3884G>A						23	SNP	c.(3883-3885)CGC>CAC	22	22			ovary(3)|pancreas(2)	5	Broad	fragile X mental retardation 2			148072810		0.527	ENSG00000155966	356	g.chrX:148072810G>A	brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding							422.257654	KEEP	66	72	-1	29	29	66	72	-1	428.758432	29	29	0.699454	1	0	0	0	0	1	0	0	0	--	--		0	A			AFF2_uc004fcq.2_Missense_Mutation_p.R1285H|AFF2_uc004fcr.2_Missense_Mutation_p.R1256H|AFF2_uc011mxb.1_Missense_Mutation_p.R1260H|AFF2_uc004fcs.2_Missense_Mutation_p.R1260H|AFF2_uc011mxc.1_Missense_Mutation_p.R936H	75	GBM-06-0879-TP	p.R1295H	G	AATCTTGTCCGCTACGTTCGC	NM_002025	NP_002016	148072810	P51816	AFF2_HUMAN	0			21	4363	+	A	A	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	1295						
AFF2	2334	broad.mit.edu	GRCh37	X	148035181	148035181	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01	TCGA-06-2563-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370460.2:c.1469C>T	p.Ser490Leu	p.S490L	ENST00000370460	NM_002025.3	490	tCg/tTg	0			1			T	S/L	uc004fcp.2	protein_coding	YES	CCDS14684.1			1469/3936									ovary(3)|pancreas(2)	5	c.(1468-1470)TCG>TTG			Low_complexity_(Seg):seg,hmmpanther:PTHR10528:SF13,hmmpanther:PTHR10528,Pfam_domain:PF05110	fragile X mental retardation 2				ENSP00000359489		21-Oct	2.47E-05	0.000235							rs782378680,COSM2152906,COSM2152905,COSM2152904	21-Oct	.		ENST00000370460	Transcript	1		brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	ENSG00000155966	g.chrX:148035181C>T	3776			MODERATE		2.635	medium	getma.org/?cm=msa&ty=f&p=AFF2_HUMAN&rb=18&re=1309&var=S490L	NA	getma.org/?cm=var&var=hg19,X,148035181,C,T&fts=all	S490L	--	--	1																																		AFF2_uc004fcq.2_Missense_Mutation_p.S480L|AFF2_uc004fcr.2_Missense_Mutation_p.S451L|AFF2_uc011mxb.1_Missense_Mutation_p.S455L|AFF2_uc004fcs.2_Missense_Mutation_p.S457L|AFF2_uc011mxc.1_Missense_Mutation_p.S131L	0,1,1,1	1		probably_damaging(0.994)	p.S490L	NM_002025	NP_002016		deleterious(0)	0,1,1,1	AFF2_HUMAN	AFF2	HGNC	P51816	AFF2_HUMAN					10	1948	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000049E130	490					SNV	AFF2,missense_variant,p.Ser490Leu,ENST00000370460,NM_002025.3,NM_001169123.1;AFF2,missense_variant,p.Ser457Leu,ENST00000370457,NM_001169122.1,NM_001169125.1,NM_001169124.1;AFF2,missense_variant,p.Ser131Leu,ENST00000286437,NM_001170628.1;AFF2,missense_variant,p.Ser457Leu,ENST00000342251,;	uc004fcp.2	c.1469C>T	1948/13746	2	2			c.1469C>T						23	SNP	c.(1468-1470)TCG>TTG	30	30			ovary(3)|pancreas(2)	5	Broad	fragile X mental retardation 2			148035181		0.557	ENSG00000155966	356	g.chrX:148035181C>T	brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding							237.922235	KEEP	42	47	-1	62	77	42	47	-1	240.065437	62	77	0.391304	1	0	0	0	0	1	0	0	0	--	--		0	T			AFF2_uc004fcq.2_Missense_Mutation_p.S480L|AFF2_uc004fcr.2_Missense_Mutation_p.S451L|AFF2_uc011mxb.1_Missense_Mutation_p.S455L|AFF2_uc004fcs.2_Missense_Mutation_p.S457L|AFF2_uc011mxc.1_Missense_Mutation_p.S131L	86	GBM-06-2563-TP	p.S490L	C	TCCAGCGAATCGGAGAGCAGC	NM_002025	NP_002016	148035181	P51816	AFF2_HUMAN	0			10	1948	+	T	T	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	490						
AFF2	2334	broad.mit.edu	GRCh37	X	148038125	148038125	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2565-01	TCGA-06-2565-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370460.2:c.2550G>A	p.Lys850=	p.K850=	ENST00000370460	NM_002025.3	850	aaG/aaA	0			1			A	K	uc004fcp.2	protein_coding	YES	CCDS14684.1			2550/3936									ovary(3)|pancreas(2)	5	c.(2548-2550)AAG>AAA			hmmpanther:PTHR10528:SF13,hmmpanther:PTHR10528,Pfam_domain:PF05110	fragile X mental retardation 2				ENSP00000359489		21-Nov									COSM3406060,COSM3406059,COSM3406058	21-Nov	.		ENST00000370460	Transcript	1		brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	ENSG00000155966	g.chrX:148038125G>A	3776			LOW								--	--	1																																		AFF2_uc004fcq.2_Silent_p.K840K|AFF2_uc004fcr.2_Silent_p.K811K|AFF2_uc011mxb.1_Silent_p.K815K|AFF2_uc004fcs.2_Silent_p.K817K|AFF2_uc011mxc.1_Silent_p.K491K	1,1,1	1			p.K850K	NM_002025	NP_002016			1,1,1	AFF2_HUMAN	AFF2	HGNC	P51816	AFF2_HUMAN					11	3029	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000049E130	850					SNV	AFF2,synonymous_variant,p.=,ENST00000370460,NM_002025.3,NM_001169123.1;AFF2,synonymous_variant,p.=,ENST00000370457,NM_001169122.1,NM_001169125.1,NM_001169124.1;AFF2,synonymous_variant,p.=,ENST00000286437,NM_001170628.1;AFF2,synonymous_variant,p.=,ENST00000342251,;	uc004fcp.2	c.2550G>A	3029/13746	2	2			c.2550G>A						23	SNP	c.(2548-2550)AAG>AAA	47	47			ovary(3)|pancreas(2)	5	Broad	fragile X mental retardation 2			148038125		0.517	ENSG00000155966	356	g.chrX:148038125G>A	brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding							1.292992	KEEP	2	1	-1	21	36	2	1	-1	8.174059	21	36	0.078947	1	0	0	0	0	0	0	1	0	--	--		0	A			AFF2_uc004fcq.2_Silent_p.K840K|AFF2_uc004fcr.2_Silent_p.K811K|AFF2_uc011mxb.1_Silent_p.K815K|AFF2_uc004fcs.2_Silent_p.K817K|AFF2_uc011mxc.1_Silent_p.K491K	88	GBM-06-2565-TP	p.K850K	G	CAGCCCCTAAGGGCAAACGTA	NM_002025	NP_002016	148038125	P51816	AFF2_HUMAN	0			11	3029	+	A	A	Acute lymphoblastic leukemia(192;6.56e-05)		Silent	850						
AFF2	0	broad.mit.edu	GRCh37	X	148069012	148069012	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2524-01	TCGA-27-2524-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370460.2:c.3739G>A	p.Val1247Ile	p.V1247I	ENST00000370460	NM_002025.3	1247	Gtc/Atc	0			1			A	V/I	uc004fcp.2	protein_coding	YES	CCDS14684.1			3739/3936									ovary(3)|pancreas(2)	5	c.(3739-3741)GTC>ATC			hmmpanther:PTHR10528:SF13,hmmpanther:PTHR10528,Pfam_domain:PF05110	fragile X mental retardation 2				ENSP00000359489		20/21	8.24E-06							9.92E-05	rs782105173,COSM3406066,COSM3406065,COSM3406064	20/21	.		ENST00000370460	Transcript	1		brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	ENSG00000155966	g.chrX:148069012G>A	3776			MODERATE		2.78	medium	getma.org/?cm=msa&ty=f&p=AFF2_HUMAN&rb=18&re=1309&var=V1247I	NA	getma.org/?cm=var&var=hg19,X,148069012,G,A&fts=all	V1247I	--	--	1																																		AFF2_uc004fcq.2_Missense_Mutation_p.V1237I|AFF2_uc004fcr.2_Missense_Mutation_p.V1208I|AFF2_uc011mxb.1_Missense_Mutation_p.V1212I|AFF2_uc004fcs.2_Missense_Mutation_p.V1212I|AFF2_uc011mxc.1_Missense_Mutation_p.V888I	0,1,1,1	1		probably_damaging(0.965)	p.V1247I	NM_002025	NP_002016		deleterious(0)	0,1,1,1	AFF2_HUMAN	AFF2	HGNC	P51816	AFF2_HUMAN					20	4218	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000049E130	1247					SNV	AFF2,missense_variant,p.Val1247Ile,ENST00000370460,NM_002025.3,NM_001169123.1;AFF2,missense_variant,p.Val1212Ile,ENST00000370457,NM_001169122.1,NM_001169125.1,NM_001169124.1;AFF2,missense_variant,p.Val888Ile,ENST00000286437,NM_001170628.1;AFF2,missense_variant,p.Val1214Ile,ENST00000342251,;	uc004fcp.2	c.3739G>A	4218/13746	1	1			c.3739G>A						23	SNP	c.(3739-3741)GTC>ATC	52	52			ovary(3)|pancreas(2)	5	Broad	fragile X mental retardation 2			148069012		0.498	ENSG00000155966	356	g.chrX:148069012G>A	brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding							305.871009	KEEP	58	70	-1	15	16	58	70	-1	314.528698	15	16	0.784483	1	0	0	0	0	1	0	0	0	--	--		0	A			AFF2_uc004fcq.2_Missense_Mutation_p.V1237I|AFF2_uc004fcr.2_Missense_Mutation_p.V1208I|AFF2_uc011mxb.1_Missense_Mutation_p.V1212I|AFF2_uc004fcs.2_Missense_Mutation_p.V1212I|AFF2_uc011mxc.1_Missense_Mutation_p.V888I	202	GBM-27-2524-TP	p.V1247I	G	TGCCAGCCACGTCAACATCAC	NM_002025	NP_002016	148069012	P51816	AFF2_HUMAN	0			20	4218	+	A	A	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	1247						
AFF2	0	broad.mit.edu	GRCh37	X	148039907	148039907	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01	TCGA-28-5208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370460.2:c.2609G>A	p.Arg870His	p.R870H	ENST00000370460	NM_002025.3	870	cGc/cAc	0			1			A	R/H	uc004fcp.2	protein_coding	YES	CCDS14684.1			2609/3936									ovary(3)|pancreas(2)	5	c.(2608-2610)CGC>CAC			hmmpanther:PTHR10528:SF13,hmmpanther:PTHR10528,Pfam_domain:PF05110	fragile X mental retardation 2				ENSP00000359489		21-Dec	4.12E-05			0.000151		4.17E-05			rs782806508,COSM3233740,COSM3233739,COSM3233738	21-Dec	.		ENST00000370460	Transcript	1		brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	ENSG00000155966	g.chrX:148039907G>A	3776			MODERATE		1.54	low	getma.org/?cm=msa&ty=f&p=AFF2_HUMAN&rb=18&re=1309&var=R870H	NA	getma.org/?cm=var&var=hg19,X,148039907,G,A&fts=all	R870H	--	--	1																																		AFF2_uc004fcq.2_Missense_Mutation_p.R860H|AFF2_uc004fcr.2_Missense_Mutation_p.R831H|AFF2_uc011mxb.1_Missense_Mutation_p.R835H|AFF2_uc004fcs.2_Missense_Mutation_p.R837H|AFF2_uc011mxc.1_Missense_Mutation_p.R511H	0,1,1,1	1		probably_damaging(0.998)	p.R870H	NM_002025	NP_002016		tolerated(0.08)	0,1,1,1	AFF2_HUMAN	AFF2	HGNC	P51816	AFF2_HUMAN					12	3088	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000049E130	870					SNV	AFF2,missense_variant,p.Arg870His,ENST00000370460,NM_002025.3,NM_001169123.1;AFF2,missense_variant,p.Arg837His,ENST00000370457,NM_001169122.1,NM_001169125.1,NM_001169124.1;AFF2,missense_variant,p.Arg511His,ENST00000286437,NM_001170628.1;AFF2,missense_variant,p.Arg837His,ENST00000342251,;	uc004fcp.2	c.2609G>A	3088/13746	2	2			c.2609G>A						23	SNP	c.(2608-2610)CGC>CAC	30	30			ovary(3)|pancreas(2)	5	Broad	fragile X mental retardation 2			148039907		0.512	ENSG00000155966	356	g.chrX:148039907G>A	brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding							936.910659	KEEP	134	163	-1	27	26	134	163	-1	977.96481	27	26	0.856716	1	0	0	0	0	1	0	0	0	--	--		0	A			AFF2_uc004fcq.2_Missense_Mutation_p.R860H|AFF2_uc004fcr.2_Missense_Mutation_p.R831H|AFF2_uc011mxb.1_Missense_Mutation_p.R835H|AFF2_uc004fcs.2_Missense_Mutation_p.R837H|AFF2_uc011mxc.1_Missense_Mutation_p.R511H	217	GBM-28-5208-TP	p.R870H	G	AAGAAGCAGCGCCTGGAGGAG	NM_002025	NP_002016	148039907	P51816	AFF2_HUMAN	0			12	3088	+	A	A	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	870						
AFF2	0	broad.mit.edu	GRCh37	X	148059892	148059892	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T			TCGA-76-4935-01	TCGA-76-4935-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370460.2:c.3477C>T	p.Cys1159=	p.C1159=	ENST00000370460	NM_002025.3	1159	tgC/tgT	0			1			T	C	uc004fcp.2	protein_coding	YES	CCDS14684.1			3477/3936									ovary(3)|pancreas(2)	5	c.(3475-3477)TGC>TGT			Low_complexity_(Seg):seg,hmmpanther:PTHR10528:SF13,hmmpanther:PTHR10528,Pfam_domain:PF05110	fragile X mental retardation 2				ENSP00000359489		18/21									COSM3406063,COSM3406062,COSM3406061	18/21	.		ENST00000370460	Transcript	1		brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	ENSG00000155966	g.chrX:148059892C>T	3776			LOW								--	--	1																																		AFF2_uc004fcq.2_Silent_p.C1149C|AFF2_uc004fcr.2_Silent_p.C1120C|AFF2_uc011mxb.1_Silent_p.C1124C|AFF2_uc004fcs.2_Silent_p.C1124C|AFF2_uc011mxc.1_Silent_p.C800C	1,1,1	1			p.C1159C	NM_002025	NP_002016			1,1,1	AFF2_HUMAN	AFF2	HGNC	P51816	AFF2_HUMAN					18	3956	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000049E130	1159					SNV	AFF2,splice_region_variant,p.=,ENST00000370460,NM_002025.3,NM_001169123.1;AFF2,splice_region_variant,p.=,ENST00000370457,NM_001169122.1,NM_001169125.1,NM_001169124.1;AFF2,splice_region_variant,p.=,ENST00000286437,NM_001170628.1;AFF2,splice_region_variant,p.=,ENST00000342251,;	uc004fcp.2	c.3477C>T	3956/13746	2	2			c.3477C>T						23	SNP	c.(3475-3477)TGC>TGT	25	25			ovary(3)|pancreas(2)	5	Broad	fragile X mental retardation 2			148059892		0.378	ENSG00000155966	356	g.chrX:148059892C>T	brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding							315.923743	KEEP	51	62	-1	76	69	51	62	-1	316.390018	76	69	0.451327	1	0	0	0	0	0	0	1	0	--	--		0	T			AFF2_uc004fcq.2_Silent_p.C1149C|AFF2_uc004fcr.2_Silent_p.C1120C|AFF2_uc011mxb.1_Silent_p.C1124C|AFF2_uc004fcs.2_Silent_p.C1124C|AFF2_uc011mxc.1_Silent_p.C800C	273	GBM-76-4935-TP	p.C1159C	C	ATCACCACAGCTACCGATGTT	NM_002025	NP_002016	148059892	P51816	AFF2_HUMAN	0			18	3956	+	T	T	Acute lymphoblastic leukemia(192;6.56e-05)		Silent	1159						
AFF2	2334		GRCh37	X	147924922	147924922	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000370460.2:c.1227C>A	p.Thr409=	p.T409=	ENST00000370460	NM_002025.3	409	acC/acA	0																																																																																																																																																																																																																																												
AFF3	0	broad.mit.edu	GRCh37	2	100209854	100209854	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs56151323		TCGA-81-5910-01	TCGA-81-5910-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409236.2:c.2269C>G	p.Leu757Val	p.L757V	ENST00000409236		757	Cta/Gta	0			1			C	L/V	uc002tag.2	protein_coding		CCDS42723.1			2269/3681									ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6	c.(2269-2271)CTA>GTA			hmmpanther:PTHR10528:SF16,hmmpanther:PTHR10528,Pfam_domain:PF05110	AF4/FMR2 family, member 3 isoform 1				ENSP00000387207		13/23									COSM3406700	13/23	.		ENST00000409236	Transcript			multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	ENSG00000144218	g.chr2:100209854G>C	6473			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=AFF3_HUMAN&rb=162&re=1224&var=L757V	NA	getma.org/?cm=var&var=hg19,2,100209854,G,C&fts=all	L757V	--	--	1																																		AFF3_uc002taf.2_Missense_Mutation_p.L782V|AFF3_uc010fiq.1_Missense_Mutation_p.L757V|AFF3_uc010yvr.1_Missense_Mutation_p.L910V|AFF3_uc002tah.1_Missense_Mutation_p.L782V	1			probably_damaging(0.997)	p.L757V	NM_002285	NP_002276		deleterious(0)	1	AFF3_HUMAN	AFF3	HGNC	P51826	AFF3_HUMAN			C9JZ66_HUMAN,C9JMS1_HUMAN,C9JC67_HUMAN,C9J847_HUMAN,C9J622_HUMAN		14	2505	-			UPI0000207EDD	757					SNV	AFF3,missense_variant,p.Leu757Val,ENST00000409236,;AFF3,missense_variant,p.Leu757Val,ENST00000317233,NM_002285.2;AFF3,missense_variant,p.Leu782Val,ENST00000356421,NM_001025108.1;AFF3,missense_variant,p.Leu782Val,ENST00000409579,;	uc002tag.2	c.2269C>G	2382/9407	3	3			c.2269C>G						2	SNP	c.(2269-2271)CTA>GTA	63	63			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6	Broad	AF4/FMR2 family, member 3 isoform 1			100209854		0.572	ENSG00000144218	357	g.chr2:100209854G>C	multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			693			693	84.758575	KEEP	13	13	-1	24	20	13	13	-1	85.705618	24	20	0.373134	1	0	0	0	0	1	0	0	0	--	--		0	C			AFF3_uc002taf.2_Missense_Mutation_p.L782V|AFF3_uc010fiq.1_Missense_Mutation_p.L757V|AFF3_uc010yvr.1_Missense_Mutation_p.L910V|AFF3_uc002tah.1_Missense_Mutation_p.L782V	289	GBM-81-5910-TP	p.L757V	G	CTGTCCTTTAGAGGGGAGAGA	NM_002285	NP_002276	100209854	P51826	AFF3_HUMAN	0			14	2505	-	C	C			Missense_Mutation	757						
AFF4	0	broad.mit.edu	GRCh37	5	132227876	132227877	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-19-5947-01	TCGA-19-5947-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265343.5:c.2616dupC	p.Ser873GlnfsTer2	p.S873Qfs*2	ENST00000265343	NM_014423.3	872	-/C	0			1			G	-/X	uc003kyd.2	protein_coding	YES	CCDS4164.1			2616-2617/3492									ovary(2)|kidney(2)|skin(1)	5	c.(2614-2619)TCCAGTfs			Pfam_domain:PF05110,hmmpanther:PTHR10528,hmmpanther:PTHR10528:SF15,Low_complexity_(Seg):seg	ALL1 fused gene from 5q31				ENSP00000265343		13/21										13/21	.		ENST00000265343	Transcript	1		transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	ENSG00000072364	g.chr5:132227876_132227877insG	17869			HIGH								--	--	1																																		AFF4_uc011cxk.1_Frame_Shift_Ins_p.S550fs|AFF4_uc003kye.1_Frame_Shift_Ins_p.S872fs		1			p.S872fs	NM_014423	NP_055238				AFF4_HUMAN	AFF4	HGNC	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		C9JCE0_HUMAN		13	3024_3025	-		all_cancers(142;0.145)|Breast(839;0.198)	UPI000006F558	872_873			Ser-rich.		insertion	AFF4,frameshift_variant,p.Ser873GlnfsTer2,ENST00000265343,NM_014423.3;AFF4,frameshift_variant,p.Ser873GlnfsTer2,ENST00000378595,;AFF4,downstream_gene_variant,,ENST00000478588,;	uc003kyd.2	c.2616_2617insC	2996-2997/9552	5	5			c.2616_2617insC						5	INS	c.(2614-2619)TCCAGTfs	47	47			ovary(2)|kidney(2)|skin(1)	5	Broad	ALL1 fused gene from 5q31			132227877		0.47	ENSG00000072364	358	g.chr5:132227876_132227877insG	transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	Ovarian(126;889 1733 2942 10745 11605)		374	Ovarian(126;889 1733 2942 10745 11605)		374														0.23	1	0	0	1	1	0	0	0	0	--	--		0	G			AFF4_uc011cxk.1_Frame_Shift_Ins_p.S550fs|AFF4_uc003kye.1_Frame_Shift_Ins_p.S872fs	169	GBM-19-5947-TP	p.S872fs	-	TTGGAGCTACTGGAAGTCTTCC	NM_014423	NP_055238	132227876	Q9UHB7	AFF4_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		13	3024_3025	-	G	G		all_cancers(142;0.145)|Breast(839;0.198)	Frame_Shift_Ins	872_873			Ser-rich.			
AFG3L2	0	broad.mit.edu	GRCh37	18	12356814	12356814	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-4068-01	TCGA-19-4068-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269143.3:c.1043G>C	p.Gly348Ala	p.G348A	ENST00000269143	NM_006796.2	348	gGt/gCt	0			1			G	G/A	uc002kqz.1	protein_coding	YES	CCDS11859.1			1043/2394										0	c.(1042-1044)GGT>GCT			Gene3D:3.40.50.300,HAMAP:MF_01458,Pfam_domain:PF00004,hmmpanther:PTHR23076,hmmpanther:PTHR23076:SF45,SMART_domains:SM00382,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR01241	AFG3 ATPase family gene 3-like 2	Adenosine triphosphate(DB00171)			ENSP00000269143		17-Sep									COSM2156455	17-Sep	.		ENST00000269143	Transcript	1		cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	ENSG00000141385	g.chr18:12356814C>G	315			MODERATE		4.03	high	getma.org/?cm=msa&ty=f&p=AFG32_HUMAN&rb=344&re=477&var=G348A	getma.org/pdb.php?prot=AFG32_HUMAN&from=344&to=477&var=G348A	getma.org/?cm=var&var=hg19,18,12356814,C,G&fts=all	G348A	--	--	1																																			1	1		probably_damaging(0.992)	p.G348A	NM_006796	NP_006787		deleterious(0)	1	AFG32_HUMAN	AFG3L2	HGNC	Q9Y4W6	AFG32_HUMAN			D3DUJ0_HUMAN		9	1156	-			UPI000013D7FF	348			ATP (Potential).		SNV	AFG3L2,missense_variant,p.Gly348Ala,ENST00000269143,NM_006796.2;AFG3L2,downstream_gene_variant,,ENST00000590811,;AFG3L2,downstream_gene_variant,,ENST00000591848,;	uc002kqz.1	c.1043G>C	1275/3247	4	4			c.1043G>C						18	SNP	c.(1042-1044)GGT>GCT	25	25				0	Broad	AFG3 ATPase family gene 3-like 2		Adenosine triphosphate(DB00171)	12356814		0.418	ENSG00000141385	359	g.chr18:12356814C>G	cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding							98.572497	KEEP	11	17	-1	20	31	11	17	-1	99.53533	20	31	0.375	1	0	0	0	0	1	0	0	0	--	--		0	G				168	GBM-19-4068-TP	p.G348A	C	GCCTGGAGGACCAGTGAGAAT	NM_006796	NP_006787	12356814	Q9Y4W6	AFG32_HUMAN	0			9	1156	-	G	G			Missense_Mutation	348			ATP (Potential).			
AFG3L2	0	broad.mit.edu	GRCh37	18	12351333	12351333	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269143.3:c.1398G>A	p.Pro466=	p.P466=	ENST00000269143	NM_006796.2	466	ccG/ccA	0			1			T	P	uc002kqz.1	protein_coding	YES	CCDS11859.1			1398/2394										0	c.(1396-1398)CCG>CCA			Gene3D:3.40.50.300,HAMAP:MF_01458,Pfam_domain:PF00004,hmmpanther:PTHR23076,hmmpanther:PTHR23076:SF45,SMART_domains:SM00382,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR01241	AFG3 ATPase family gene 3-like 2	Adenosine triphosphate(DB00171)			ENSP00000269143		17-Nov									COSM3403436	17-Nov	.		ENST00000269143	Transcript	1		cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	ENSG00000141385	g.chr18:12351333C>T	315			LOW								--	--	1																																			1	1			p.P466P	NM_006796	NP_006787			1	AFG32_HUMAN	AFG3L2	HGNC	Q9Y4W6	AFG32_HUMAN			D3DUJ0_HUMAN		11	1511	-			UPI000013D7FF	466					SNV	AFG3L2,synonymous_variant,p.=,ENST00000269143,NM_006796.2;AFG3L2,upstream_gene_variant,,ENST00000588893,;	uc002kqz.1	c.1398G>A	1630/3247	2	2			c.1398G>A						18	SNP	c.(1396-1398)CCG>CCA	17	17				0	Broad	AFG3 ATPase family gene 3-like 2		Adenosine triphosphate(DB00171)	12351333		0.463	ENSG00000141385	359	g.chr18:12351333C>T	cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding							176.356101	KEEP	33	28	-1	53	61	33	28	-1	179.054322	53	61	0.363636	1	0	0	0	0	0	0	1	0	--	--		0	T				218	GBM-28-5209-TP	p.P466P	C	CGAAACGCCCCGGCCTAAGCA	NM_006796	NP_006787	12351333	Q9Y4W6	AFG32_HUMAN	0			11	1511	-	T	T			Silent	466						
AFM	173	broad.mit.edu	GRCh37	4	74354406	74354406	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs139224995	byFrequency	TCGA-02-0055-01	TCGA-02-0055-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000226355.3:c.773T>C	p.Leu258Pro	p.L258P	ENST00000226355	NM_001133.2	258	cTt/cCt	0	C:0.0002		1			C	L/P	uc003hhb.2	protein_coding	YES	CCDS3557.1			773/1800									ovary(2)|central_nervous_system(1)	3	c.(772-774)CTT>CCT			Gene3D:1.10.246.10,Pfam_domain:PF00273,PIRSF_domain:PIRSF002520,Prints_domain:PR00802,PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF13,SMART_domains:SM00103,Superfamily_domains:SSF48552	afamin precursor			C:0.0002	ENSP00000226355		15-Jul	3.29E-05	9.64E-05				4.50E-05			rs139224995,COSM2149036	15-Jul	.		ENST00000226355	Transcript			vitamin transport		vitamin E binding	ENSG00000079557	g.chr4:74354406T>C	316			MODERATE		2.835	medium	getma.org/?cm=msa&ty=f&p=AFAM_HUMAN&rb=220&re=394&var=L258P	getma.org/pdb.php?prot=AFAM_HUMAN&from=220&to=394&var=L258P	getma.org/?cm=var&var=hg19,4,74354406,T,C&fts=all	L258P	--	--	1																																			0,1	1		probably_damaging(0.989)	p.L258P	NM_001133	NP_001124		deleterious(0)	0,1	AFAM_HUMAN	AFM	HGNC	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)				7	804	+	Breast(15;0.00102)		UPI000012565D	258			Albumin 2.		SNV	AFM,missense_variant,p.Leu258Pro,ENST00000226355,NM_001133.2;	uc003hhb.2	c.773T>C	866/2032	3	3			c.773T>C						4	SNP	c.(772-774)CTT>CCT	12	12			ovary(2)|central_nervous_system(1)	3	Broad	afamin precursor			74354406		0.353	ENSG00000079557	360	g.chr4:74354406T>C	vitamin transport		vitamin E binding							213.405968	KEEP	40	26	-1	60	57	40	26	-1	216.460003	60	57	0.358382	1	0	0	0	0	1	0	0	0	--	--		0	C				4	GBM-02-0055-TP	p.L258P	T	CTTATTTCTCTTGTAGAAGAT	NM_001133	NP_001124	74354406	P43652	AFAM_HUMAN	0	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		7	804	+	C	C	Breast(15;0.00102)		Missense_Mutation	258			Albumin 2.			
AFM	173	broad.mit.edu	GRCh37	4	74365895	74365895	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000226355.3:c.1597G>A	p.Ala533Thr	p.A533T	ENST00000226355	NM_001133.2	533	Gca/Aca	0			1			A	A/T	uc003hhb.2	protein_coding	YES	CCDS3557.1			1597/1800									ovary(2)|central_nervous_system(1)	3	c.(1597-1599)GCA>ACA			Gene3D:1.10.246.10,Pfam_domain:PF00273,PIRSF_domain:PIRSF002520,PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF13,SMART_domains:SM00103,Superfamily_domains:SSF48552	afamin precursor				ENSP00000226355		15-Dec									COSM2152126	15-Dec	.		ENST00000226355	Transcript			vitamin transport		vitamin E binding	ENSG00000079557	g.chr4:74365895G>A	316			MODERATE		0.835	low	getma.org/?cm=msa&ty=f&p=AFAM_HUMAN&rb=412&re=590&var=A533T	getma.org/pdb.php?prot=AFAM_HUMAN&from=412&to=590&var=A533T	getma.org/?cm=var&var=hg19,4,74365895,G,A&fts=all	A533T	--	--	1																																			1	1		benign(0.008)	p.A533T	NM_001133	NP_001124		tolerated(0.73)	1	AFAM_HUMAN	AFM	HGNC	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)				12	1628	+	Breast(15;0.00102)		UPI000012565D	533			Albumin 3.		SNV	AFM,missense_variant,p.Ala533Thr,ENST00000226355,NM_001133.2;AFM,downstream_gene_variant,,ENST00000505794,;	uc003hhb.2	c.1597G>A	1690/2032	2	2			c.1597G>A						4	SNP	c.(1597-1599)GCA>ACA	29	29			ovary(2)|central_nervous_system(1)	3	Broad	afamin precursor			74365895		0.393	ENSG00000079557	360	g.chr4:74365895G>A	vitamin transport		vitamin E binding							74.22793	KEEP	17	10	-1	31	19	17	10	-1	75.347003	31	19	0.366197	1	0	0	0	0	1	0	0	0	--	--		0	A				73	GBM-06-0877-TP	p.A533T	G	TACCTTTCACGCAGACATGTG	NM_001133	NP_001124	74365895	P43652	AFAM_HUMAN	0	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		12	1628	+	A	A	Breast(15;0.00102)		Missense_Mutation	533			Albumin 3.			
AFM	0	broad.mit.edu	GRCh37	4	74361147	74361147	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01	TCGA-12-0692-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000226355.3:c.1189G>A	p.Ala397Thr	p.A397T	ENST00000226355	NM_001133.2	397	Gcg/Acg	0	A:0.0002		1			A	A/T	uc003hhb.2	protein_coding	YES	CCDS3557.1			1189/1800									ovary(2)|central_nervous_system(1)	3	c.(1189-1191)GCG>ACG			Gene3D:1.10.246.10,PIRSF_domain:PIRSF002520,PROSITE_patterns:PS00212,PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF13,SMART_domains:SM00103,Superfamily_domains:SSF48552	afamin precursor			A:0.0001	ENSP00000226355		15-Sep	7.41E-05	0.000198				9.05E-05		6.07E-05	rs372542885,COSM2154249	15-Sep	.		ENST00000226355	Transcript			vitamin transport		vitamin E binding	ENSG00000079557	g.chr4:74361147G>A	316			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=AFAM_HUMAN&rb=211&re=403&var=A397T	getma.org/pdb.php?prot=AFAM_HUMAN&from=211&to=403&var=A397T	getma.org/?cm=var&var=hg19,4,74361147,G,A&fts=all	A397T	--	--	1																																			0,1	1		possibly_damaging(0.644)	p.A397T	NM_001133	NP_001124		deleterious(0.03)	0,1	AFAM_HUMAN	AFM	HGNC	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)				9	1220	+	Breast(15;0.00102)		UPI000012565D	397			Albumin 2.		SNV	AFM,missense_variant,p.Ala397Thr,ENST00000226355,NM_001133.2;AFM,splice_region_variant,,ENST00000505794,;	uc003hhb.2	c.1189G>A	1282/2032	1	1			c.1189G>A						4	SNP	c.(1189-1191)GCG>ACG	61	61			ovary(2)|central_nervous_system(1)	3	Broad	afamin precursor			74361147		0.378	ENSG00000079557	360	g.chr4:74361147G>A	vitamin transport		vitamin E binding							112.842569	KEEP	18	24	-1	36	27	18	24	-1	113.592307	36	27	0.404255	1	0	0	0	0	1	0	0	0	--	--		0	A				122	GBM-12-0692-TP	p.A397T	G	TTACCGTTACGCGGTAGGTTC	NM_001133	NP_001124	74361147	P43652	AFAM_HUMAN	0	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		9	1220	+	A	A	Breast(15;0.00102)		Missense_Mutation	397			Albumin 2.			
AFM	0	broad.mit.edu	GRCh37	4	74365901	74365901	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs149561663		TCGA-28-2514-01	TCGA-28-2514-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000226355.3:c.1603A>C	p.Met535Leu	p.M535L	ENST00000226355	NM_001133.2	535	Atg/Ctg	0			1			C	M/L	uc003hhb.2	protein_coding	YES	CCDS3557.1			1603/1800									ovary(2)|central_nervous_system(1)	3	c.(1603-1605)ATG>CTG			Gene3D:1.10.246.10,Pfam_domain:PF00273,PIRSF_domain:PIRSF002520,PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF13,SMART_domains:SM00103,Superfamily_domains:SSF48552	afamin precursor				ENSP00000226355		15-Dec									COSM3409474	15-Dec	.		ENST00000226355	Transcript			vitamin transport		vitamin E binding	ENSG00000079557	g.chr4:74365901A>C	316			MODERATE		-1.195	neutral	getma.org/?cm=msa&ty=f&p=AFAM_HUMAN&rb=412&re=590&var=M535L	getma.org/pdb.php?prot=AFAM_HUMAN&from=412&to=590&var=M535L	getma.org/?cm=var&var=hg19,4,74365901,A,C&fts=all	M535L	--	--	1																																			1	1		benign(0.002)	p.M535L	NM_001133	NP_001124		tolerated(1)	1	AFAM_HUMAN	AFM	HGNC	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)				12	1634	+	Breast(15;0.00102)		UPI000012565D	535			Albumin 3.		SNV	AFM,missense_variant,p.Met535Leu,ENST00000226355,NM_001133.2;AFM,downstream_gene_variant,,ENST00000505794,;	uc003hhb.2	c.1603A>C	1696/2032	4	4			c.1603A>C						4	SNP	c.(1603-1605)ATG>CTG	41	41			ovary(2)|central_nervous_system(1)	3	Broad	afamin precursor			74365901		0.393	ENSG00000079557	360	g.chr4:74365901A>C	vitamin transport		vitamin E binding							80.6093	KEEP	8	17	-1	21	26	8	17	-1	81.944609	21	26	0.348485	1	0	0	0	0	1	0	0	0	--	--		0	C				214	GBM-28-2514-TP	p.M535L	A	TCACGCAGACATGTGTCAATC	NM_001133	NP_001124	74365901	P43652	AFAM_HUMAN	0	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		12	1634	+	C	C	Breast(15;0.00102)		Missense_Mutation	535			Albumin 3.			
AFM	0	broad.mit.edu	GRCh37	4	74354363	74354363	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-41-3393-01	TCGA-41-3393-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000226355.3:c.730A>G	p.Ser244Gly	p.S244G	ENST00000226355	NM_001133.2	244	Agt/Ggt	0			1			G	S/G	uc003hhb.2	protein_coding	YES	CCDS3557.1			730/1800									ovary(2)|central_nervous_system(1)	3	c.(730-732)AGT>GGT			Gene3D:1.10.246.10,Pfam_domain:PF00273,PIRSF_domain:PIRSF002520,PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF13,SMART_domains:SM00103,Superfamily_domains:SSF48552	afamin precursor				ENSP00000226355		15-Jul									COSM3409472	15-Jul	.		ENST00000226355	Transcript			vitamin transport		vitamin E binding	ENSG00000079557	g.chr4:74354363A>G	316			MODERATE		2.955	medium	getma.org/?cm=msa&ty=f&p=AFAM_HUMAN&rb=220&re=394&var=S244G	getma.org/pdb.php?prot=AFAM_HUMAN&from=220&to=394&var=S244G	getma.org/?cm=var&var=hg19,4,74354363,A,G&fts=all	S244G	--	--	1																																			1	1		benign(0.372)	p.S244G	NM_001133	NP_001124		deleterious(0.03)	1	AFAM_HUMAN	AFM	HGNC	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)				7	761	+	Breast(15;0.00102)		UPI000012565D	244			Albumin 2.		SNV	AFM,missense_variant,p.Ser244Gly,ENST00000226355,NM_001133.2;	uc003hhb.2	c.730A>G	823/2032	3	3			c.730A>G						4	SNP	c.(730-732)AGT>GGT	2	2			ovary(2)|central_nervous_system(1)	3	Broad	afamin precursor			74354363		0.343	ENSG00000079557	360	g.chr4:74354363A>G	vitamin transport		vitamin E binding							119.228879	KEEP	21	31	-1	60	71	21	31	-1	126.848374	60	71	0.271605	1	0	0	0	0	1	0	0	0	--	--		0	G				255	GBM-41-3393-TP	p.S244G	A	TGCGATACTCAGTCAAAAATT	NM_001133	NP_001124	74354363	P43652	AFAM_HUMAN	0	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		7	761	+	G	G	Breast(15;0.00102)		Missense_Mutation	244			Albumin 2.			
AFM	0	broad.mit.edu	GRCh37	4	74364954	74364954	+	synonymous_variant	Silent	SNP	T	T	A			TCGA-76-4928-01	TCGA-76-4928-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000226355.3:c.1413T>A	p.Val471=	p.V471=	ENST00000226355	NM_001133.2	471	gtT/gtA	0			1			A	V	uc003hhb.2	protein_coding	YES	CCDS3557.1			1413/1800									ovary(2)|central_nervous_system(1)	3	c.(1411-1413)GTT>GTA			Gene3D:1.10.246.10,Pfam_domain:PF00273,PIRSF_domain:PIRSF002520,PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF13,SMART_domains:SM00103,Superfamily_domains:SSF48552	afamin precursor				ENSP00000226355		15-Nov									COSM3409473	15-Nov	.		ENST00000226355	Transcript			vitamin transport		vitamin E binding	ENSG00000079557	g.chr4:74364954T>A	316			LOW								--	--	1																																			1	1			p.V471V	NM_001133	NP_001124			1	AFAM_HUMAN	AFM	HGNC	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)				11	1444	+	Breast(15;0.00102)		UPI000012565D	471			Albumin 3.		SNV	AFM,synonymous_variant,p.=,ENST00000226355,NM_001133.2;AFM,downstream_gene_variant,,ENST00000505794,;	uc003hhb.2	c.1413T>A	1506/2032	2	2			c.1413T>A						4	SNP	c.(1411-1413)GTT>GTA	48	48			ovary(2)|central_nervous_system(1)	3	Broad	afamin precursor			74364954		0.383	ENSG00000079557	360	g.chr4:74364954T>A	vitamin transport		vitamin E binding							44.414546	KEEP	5	14	-1	30	16	5	14	-1	47.130037	30	16	0.278689	1	0	0	0	0	0	0	1	0	--	--		0	A				268	GBM-76-4928-TP	p.V471V	T	TTGCCTGTGTTGATAATTTGG	NM_001133	NP_001124	74364954	P43652	AFAM_HUMAN	0	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		11	1444	+	A	A	Breast(15;0.00102)		Silent	471			Albumin 3.			
AFM	0	broad.mit.edu	GRCh37	4	74367504	74367504	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-6191-01	TCGA-76-6191-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000226355.3:c.1647G>C	p.Arg549Ser	p.R549S	ENST00000226355	NM_001133.2	549	agG/agC	0			1			C	R/S	uc003hhb.2	protein_coding	YES	CCDS3557.1			1647/1800									ovary(2)|central_nervous_system(1)	3	c.(1645-1647)AGG>AGC			Gene3D:1.10.246.10,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00273,PIRSF_domain:PIRSF002520,Prints_domain:PR00803,PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF13,SMART_domains:SM00103,Superfamily_domains:SSF48552	afamin precursor				ENSP00000226355		13/15										13/15	.		ENST00000226355	Transcript			vitamin transport		vitamin E binding	ENSG00000079557	g.chr4:74367504G>C	316			MODERATE		1.32	low	getma.org/?cm=msa&ty=f&p=AFAM_HUMAN&rb=412&re=590&var=R549S	getma.org/pdb.php?prot=AFAM_HUMAN&from=412&to=590&var=R549S	getma.org/?cm=var&var=hg19,4,74367504,G,C&fts=all	R549S	--	--	1																																				1		probably_damaging(0.978)	p.R549S	NM_001133	NP_001124		deleterious(0.01)		AFAM_HUMAN	AFM	HGNC	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)				13	1678	+	Breast(15;0.00102)		UPI000012565D	549			Albumin 3.		SNV	AFM,missense_variant,p.Arg549Ser,ENST00000226355,NM_001133.2;AFM,downstream_gene_variant,,ENST00000505794,;	uc003hhb.2	c.1647G>C	1740/2032	3	3			c.1647G>C						4	SNP	c.(1645-1647)AGG>AGC	8	8			ovary(2)|central_nervous_system(1)	3	Broad	afamin precursor			74367504		0.388	ENSG00000079557	360	g.chr4:74367504G>C	vitamin transport		vitamin E binding							47.069464	KEEP	7	6	-1	11	8	7	6	-1	47.315207	11	8	0.40625	1	0	0	0	0	1	0	0	0	--	--		0	C				274	GBM-76-6191-TP	p.R549S	G	TTGGCCACAGGTTTCTTGTCA	NM_001133	NP_001124	74367504	P43652	AFAM_HUMAN	0	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		13	1678	+	C	C	Breast(15;0.00102)		Missense_Mutation	549			Albumin 3.			
AFP	0	broad.mit.edu	GRCh37	4	74310789	74310789	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-14-2554-01	TCGA-14-2554-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395792.2:c.793G>T	p.Val265Leu	p.V265L	ENST00000395792	NM_001134.1	265	Gta/Tta	0			1			T	V/L	uc003hgz.1	protein_coding	YES	CCDS3556.1			793/1830									ovary(1)	1	c.(793-795)GTA>TTA			PROSITE_profiles:PS51438,hmmpanther:PTHR11385:SF7,hmmpanther:PTHR11385,Pfam_domain:PF00273,Gene3D:1.10.246.10,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552,Prints_domain:PR00802	alpha-fetoprotein precursor				ENSP00000379138		15-Jul									COSM3409471	15-Jul	.	Alpha-Fetoprotein_Hereditary_Persistence_of	ENST00000395792	Transcript	1		transport		metal ion binding	ENSG00000081051	g.chr4:74310789G>T	317			MODERATE		0.145	neutral	getma.org/?cm=msa&ty=f&p=FETA_HUMAN&rb=220&re=394&var=V265L	getma.org/pdb.php?prot=FETA_HUMAN&from=220&to=394&var=V265L	getma.org/?cm=var&var=hg19,4,74310789,G,T&fts=all	V265L	--	--	1																																		AFP_uc003hha.1_Missense_Mutation_p.V265L|AFP_uc011cbg.1_Missense_Mutation_p.V39L	1	1		benign(0.111)	p.V265L	NM_001134	NP_001125		tolerated(0.13)	1	FETA_HUMAN	AFP	HGNC	P02771	FETA_HUMAN	Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)				7	840	+	Breast(15;0.00102)		UPI00000012A9	265			Albumin 2.		SNV	AFP,missense_variant,p.Val265Leu,ENST00000395792,NM_001134.1;AFP,missense_variant,p.Val265Leu,ENST00000226359,;	uc003hgz.1	c.793G>T	893/2484	2	2			c.793G>T						4	SNP	c.(793-795)GTA>TTA	24	24			ovary(1)	1	Broad	alpha-fetoprotein precursor			74310789	Alpha-Fetoprotein_Hereditary_Persistence_of	0.388	ENSG00000081051	362	g.chr4:74310789G>T	transport		metal ion binding							225.370082	KEEP	45	40	0.529411765	58	57	45	40	0.529411765	226.118468	58	57	0.428571	1	0	0	0	0	1	0	0	0	--	--		0	T			AFP_uc003hha.1_Missense_Mutation_p.V265L|AFP_uc011cbg.1_Missense_Mutation_p.V39L	150	GBM-14-2554-TP	p.V265L	G	TGTGGCCCATGTACATGAGCA	NM_001134	NP_001125	74310789	P02771	FETA_HUMAN	0	Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		7	840	+	T	T	Breast(15;0.00102)		Missense_Mutation	265			Albumin 2.			
AFP	0	broad.mit.edu	GRCh37	4	74316398	74316398	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-32-2494-01	TCGA-32-2494-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395792.2:c.1360delA	p.Met454TrpfsTer37	p.M454Wfs*37	ENST00000395792	NM_001134.1	452	agA/ag	0			1			-	R/X	uc003hgz.1	protein_coding	YES	CCDS3556.1			1356/1830									ovary(1)	1	c.(1354-1356)AGAfs			PROSITE_profiles:PS51438,hmmpanther:PTHR11385:SF7,hmmpanther:PTHR11385,Pfam_domain:PF00273,Gene3D:1.10.246.10,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552,Prints_domain:PR00802	alpha-fetoprotein precursor				ENSP00000379138		15-Nov										15-Nov	.	Alpha-Fetoprotein_Hereditary_Persistence_of	ENST00000395792	Transcript	1		transport		metal ion binding	ENSG00000081051	g.chr4:74316398delA	317	4		HIGH								--	--	1																																		AFP_uc003hha.1_Frame_Shift_Del_p.R452fs|AFP_uc011cbg.1_Frame_Shift_Del_p.R226fs		1			p.R452fs	NM_001134	NP_001125				FETA_HUMAN	AFP	HGNC	P02771	FETA_HUMAN	Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)				11	1403	+	Breast(15;0.00102)		UPI00000012A9	452			Albumin 3.		deletion	AFP,frameshift_variant,p.Met454TrpfsTer37,ENST00000395792,NM_001134.1;AFP,frameshift_variant,p.Met454TrpfsTer37,ENST00000226359,;AFP,upstream_gene_variant,,ENST00000506820,;AFP,non_coding_transcript_exon_variant,,ENST00000508838,;AFP,upstream_gene_variant,,ENST00000514279,;	uc003hgz.1	c.1356delA	1456/2484	5	5			c.1356delA						4	DEL	c.(1354-1356)AGAfs	22	22			ovary(1)	1	Broad	alpha-fetoprotein precursor			74316398	Alpha-Fetoprotein_Hereditary_Persistence_of	0.517	ENSG00000081051	362	g.chr4:74316398delA	transport		metal ion binding																				0.26	1	1	0	1	0	0	0	0	0	--	--		0	-			AFP_uc003hha.1_Frame_Shift_Del_p.R452fs|AFP_uc011cbg.1_Frame_Shift_Del_p.R226fs	236	GBM-32-2494-TP	p.R452fs	A	CCATCACCAGAAAAATGGCAG	NM_001134	NP_001125	74316398	P02771	FETA_HUMAN	0	Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		11	1403	+	-	-	Breast(15;0.00102)		Frame_Shift_Del	452			Albumin 3.			
AGAP1	0	broad.mit.edu	GRCh37	2	236659063	236659063	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6282-01	TCGA-76-6282-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304032.8:c.604C>T	p.Leu202=	p.L202=	ENST00000304032	NM_001037131.2	202	Ctg/Ttg	0			1			T	L	uc002vvs.2	protein_coding	YES	CCDS33408.1			604/2574									ovary(2)|skin(1)	3	c.(604-606)CTG>TTG			PROSITE_profiles:PS51419,hmmpanther:PTHR23180:SF226,hmmpanther:PTHR23180,Gene3D:3.40.50.300,SMART_domains:SM00173,SMART_domains:SM00175,Superfamily_domains:SSF52540	centaurin, gamma 2 isoform 1				ENSP00000307634		18-Jun									COSM3407709	18-Jun	.		ENST00000304032	Transcript			protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	ENSG00000157985	g.chr2:236659063C>T	16922			LOW								--	--	1																																		AGAP1_uc002vvt.2_Silent_p.L202L	1	1			p.L202L	NM_001037131	NP_001032208			1	AGAP1_HUMAN	AGAP1	HGNC	Q9UPQ3	AGAP1_HUMAN			Q53S93_HUMAN,Q4ZG54_HUMAN,Q4ZG22_HUMAN,F5GXM9_HUMAN		6	1199	+			UPI00005E1AE1	202			Small GTPase-like.		SNV	AGAP1,synonymous_variant,p.=,ENST00000304032,NM_001037131.2;AGAP1,synonymous_variant,p.=,ENST00000409538,;AGAP1,synonymous_variant,p.=,ENST00000336665,NM_014914.4;AGAP1,synonymous_variant,p.=,ENST00000428334,;AGAP1,synonymous_variant,p.=,ENST00000409457,NM_001244888.1;	uc002vvs.2	c.604C>T	1184/10832	2	2			c.604C>T						2	SNP	c.(604-606)CTG>TTG	42	42			ovary(2)|skin(1)	3	Broad	centaurin, gamma 2 isoform 1			236659063		0.527	ENSG00000157985	365	g.chr2:236659063C>T	protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding							153.209781	KEEP	20	32	-1	44	70	20	32	-1	158.129654	44	70	0.314815	1	0	0	0	0	0	0	1	0	--	--		0	T			AGAP1_uc002vvt.2_Silent_p.L202L	278	GBM-76-6282-TP	p.L202L	C	CTCCAACGACCTGAAACGGTG	NM_001037131	NP_001032208	236659063	Q9UPQ3	AGAP1_HUMAN	0			6	1199	+	T	T			Silent	202			Small GTPase-like.			
AGAP2	0	broad.mit.edu	GRCh37	12	58124715	58124715	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-4210-01	TCGA-32-4210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000547588.1:c.2167G>T	p.Gly723Cys	p.G723C	ENST00000547588	NM_001122772.2	723	Ggc/Tgc	0			1			A	G/C	uc001spq.2	protein_coding	YES	CCDS44932.1			2167/3579									central_nervous_system(3)|breast(2)	5	c.(2167-2169)GGC>TGC			PROSITE_profiles:PS50003,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF218,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	centaurin, gamma 1 isoform PIKE-L				ENSP00000449241		19-Nov									COSM3398944,COSM3398943	19-Nov	.		ENST00000547588	Transcript			axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	ENSG00000135439	g.chr12:58124715C>A	16921			MODERATE		2.06	medium	getma.org/?cm=msa&ty=f&p=AGAP2_HUMAN&rb=677&re=909&var=G723C	getma.org/pdb.php?prot=AGAP2_HUMAN&from=677&to=909&var=G723C	getma.org/?cm=var&var=hg19,12,58124715,C,A&fts=all	G723C	--	--	1																																		AGAP2_uc001spp.2_Missense_Mutation_p.G723C|AGAP2_uc001spr.2_Missense_Mutation_p.G387C	1,1	1		probably_damaging(1)	p.G723C	NM_001122772	NP_001116244		deleterious(0)	1,1		AGAP2	HGNC	Q99490	AGAP2_HUMAN			F8VVT9_HUMAN,B3KVD5_HUMAN		11	2167	-			UPI00001AF80C	723			PH.		SNV	AGAP2,missense_variant,p.Gly587Cys,ENST00000328568,;AGAP2,missense_variant,p.Gly387Cys,ENST00000257897,NM_014770.3;AGAP2,missense_variant,p.Gly723Cys,ENST00000547588,NM_001122772.2;AGAP2,missense_variant,p.Gly79Cys,ENST00000549129,;AGAP2-AS1,downstream_gene_variant,,ENST00000542466,;	uc001spq.2	c.2167G>T	2167/3579	1	1			c.2167G>T						12	SNP	c.(2167-2169)GGC>TGC	62	62			central_nervous_system(3)|breast(2)	5	Broad	centaurin, gamma 1 isoform PIKE-L			58124715		0.582	ENSG00000135439	367	g.chr12:58124715C>A	axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			257			257	3.936364	KEEP	2	0	-1	12	6	2	0	-1	6.877989	12	6	0.105263	1	0	0	0	0	1	0	0	0	--	--		0	A			AGAP2_uc001spp.2_Missense_Mutation_p.G723C|AGAP2_uc001spr.2_Missense_Mutation_p.G387C	245	GBM-32-4210-TP	p.G723C	C	ATCTCCTTGCCGTGGGTACTG	NM_001122772	NP_001116244	58124715	Q99490	AGAP2_HUMAN	0			11	2167	-	A	A			Missense_Mutation	723			PH.			
AGAP2-AS1	100130776	broad.mit.edu	GRCh37	12	58120988	58120988	+	synonymous_variant	Silent	SNP	G	G	A	rs145154021		TCGA-06-5418-01	TCGA-06-5418-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000542466.2:c.213G>A	p.Ala71=	p.A71=	ENST00000542466		71	gcG/gcA	0			1			A	R	uc001spq.2	protein_coding	YES	CCDS44932.1			3105/3579									central_nervous_system(3)|breast(2)	5	c.(3103-3105)CGC>CGT			PROSITE_profiles:PS50115,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF218,Pfam_domain:PF01412,SMART_domains:SM00105,Superfamily_domains:SSF57863	centaurin, gamma 1 isoform PIKE-L				ENSP00000449241		18/19									COSM2153355,COSM2153354	18/19	.		ENST00000547588	Transcript			axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	ENSG00000135439	g.chr12:58120988G>A	16921			LOW								--	--	1																																OREG0021951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	AGAP2_uc001spo.1_5'Flank|AGAP2_uc001spp.2_Silent_p.R1034R|AGAP2_uc001spr.2_Silent_p.R679R|LOC100130776_uc001sps.3_Silent_p.A71A	1,1	1			p.R1035R	NM_001122772	NP_001116244			1,1		AGAP2	HGNC	Q99490	AGAP2_HUMAN			F8VVT9_HUMAN,B3KVD5_HUMAN		18	3105	-			UPI00001AF80C	1035			Arf-GAP.		SNV	AGAP2,synonymous_variant,p.=,ENST00000328568,;AGAP2,synonymous_variant,p.=,ENST00000257897,NM_014770.3;AGAP2,synonymous_variant,p.=,ENST00000547588,NM_001122772.2;AGAP2-AS1,synonymous_variant,p.=,ENST00000542466,;AGAP2,downstream_gene_variant,,ENST00000549129,;RP11-571M6.8,upstream_gene_variant,,ENST00000548410,;RP11-571M6.8,upstream_gene_variant,,ENST00000602413,;	uc001spq.2	c.3105C>T	3105/3579	2	2			c.3105C>T						12	SNP	c.(3103-3105)CGC>CGT	30	30			central_nervous_system(3)|breast(2)	5	Broad	centaurin, gamma 1 isoform PIKE-L			58120988		0.677	ENSG00000135439	367	g.chr12:58120988G>A	axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			257			257	18.270613	KEEP	4	3	-1	6	8	4	3	-1	18.644391	6	8	0.35	1	0	0	0	0	0	0	1	0	--	--		0	A	OREG0021951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	AGAP2_uc001spo.1_5'Flank|AGAP2_uc001spp.2_Silent_p.R1034R|AGAP2_uc001spr.2_Silent_p.R679R|LOC100130776_uc001sps.3_Silent_p.A71A	100	GBM-06-5418-TP	p.R1035R	G	CGTACTTGGCGCGAATCCACG	NM_001122772	NP_001116244	58120988	Q99490	AGAP2_HUMAN	0			18	3105	-	A	A			Silent	1035			Arf-GAP.			
AGAP3	116988	broad.mit.edu	GRCh37	7	150840441	150840441	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397238.2:c.2287C>T	p.Arg763Cys	p.R763C	ENST00000397238	NM_031946.5	763	Cgc/Tgc	0	T:0.0002		1			T	R/C	uc003wjg.1	protein_coding	YES	CCDS43681.1			2287/2736									central_nervous_system(2)|ovary(1)	3	c.(2287-2289)CGC>TGC			Pfam_domain:PF01412,PROSITE_profiles:PS50115,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF198,SMART_domains:SM00105,Superfamily_domains:SSF57863	centaurin, gamma 3 isoform a			T:0.0001	ENSP00000380413		17/18	6.60E-05	0.000103		0.000116		4.56E-05		0.000218	rs372948404,COSM238722	17/18	.		ENST00000397238	Transcript			regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	ENSG00000133612	g.chr7:150840441C>T	16923			MODERATE		2.89	medium	getma.org/?cm=msa&ty=f&p=AGAP3_HUMAN&rb=626&re=742&var=R727C	getma.org/pdb.php?prot=AGAP3_HUMAN&from=626&to=742&var=R727C	getma.org/?cm=var&var=hg19,7,150840441,C,T&fts=all	R727C	--	--	1																																		AGAP3_uc003wje.1_Missense_Mutation_p.R432C|AGAP3_uc003wjj.1_Missense_Mutation_p.R262C|AGAP3_uc003wjk.1_Missense_Mutation_p.R181C	0,1	1		possibly_damaging(0.888)	p.R763C	NM_031946	NP_114152		deleterious(0.01)	0,1	AGAP3_HUMAN	AGAP3	HGNC	Q96P47	AGAP3_HUMAN			Q96T14_HUMAN,D3DX07_HUMAN		17	2290	+			UPI0000DAC777	727			Arf-GAP.		SNV	AGAP3,missense_variant,p.Arg763Cys,ENST00000397238,NM_031946.5;AGAP3,missense_variant,p.Arg432Cys,ENST00000463381,NM_001281300.1;AGAP3,missense_variant,p.Arg256Cys,ENST00000461065,;AGAP3,non_coding_transcript_exon_variant,,ENST00000473633,;	uc003wjg.1	c.2287C>T	2287/3225	2	2			c.2287C>T						7	SNP	c.(2287-2289)CGC>TGC	44	44			central_nervous_system(2)|ovary(1)	3	Broad	centaurin, gamma 3 isoform a			150840441		0.617	ENSG00000133612	368	g.chr7:150840441C>T	regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding							40.88632	KEEP	14	12	-1	61	56	14	12	-1	53.69977	61	56	0.165289	1	0	0	0	0	1	0	0	0	--	--		0	T			AGAP3_uc003wje.1_Missense_Mutation_p.R432C|AGAP3_uc003wjj.1_Missense_Mutation_p.R262C|AGAP3_uc003wjk.1_Missense_Mutation_p.R181C	46	GBM-06-0209-TP	p.R763C	C	GGAGAAGGAACGCTGGATACG	NM_031946	NP_114152	150840441	Q96P47	AGAP3_HUMAN	0			17	2290	+	T	T			Missense_Mutation	727			Arf-GAP.			
AGAP3	0	broad.mit.edu	GRCh37	7	150835302	150835302	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01	TCGA-41-2572-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397238.2:c.1568C>T	p.Pro523Leu	p.P523L	ENST00000397238	NM_031946.5	523	cCg/cTg	0			1			T	P/L	uc003wjg.1	protein_coding	YES	CCDS43681.1			1568/2736									central_nervous_system(2)|ovary(1)	3	c.(1567-1569)CCG>CTG			Pfam_domain:PF00169,PROSITE_profiles:PS50003,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF198,SMART_domains:SM00233	centaurin, gamma 3 isoform a				ENSP00000380413		18-Dec	4.14E-05	0.000146				3.74E-05		7.14E-05	rs774061467,COSM3411808	18-Dec	.		ENST00000397238	Transcript			regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	ENSG00000133612	g.chr7:150835302C>T	16923			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=AGAP3_HUMAN&rb=368&re=604&var=P487L	NA	getma.org/?cm=var&var=hg19,7,150835302,C,T&fts=all	P487L	--	--	1																																		AGAP3_uc003wje.1_Intron|AGAP3_uc003wjj.1_Intron|AGAP3_uc003wjk.1_5'Flank	0,1	1		benign(0.04)	p.P523L	NM_031946	NP_114152		tolerated(0.15)	0,1	AGAP3_HUMAN	AGAP3	HGNC	Q96P47	AGAP3_HUMAN			Q96T14_HUMAN,D3DX07_HUMAN		12	1571	+			UPI0000DAC777	487			PH.		SNV	AGAP3,missense_variant,p.Pro523Leu,ENST00000397238,NM_031946.5;AGAP3,intron_variant,,ENST00000463381,NM_001281300.1;AGAP3,intron_variant,,ENST00000461065,;AGAP3,non_coding_transcript_exon_variant,,ENST00000485904,;AGAP3,downstream_gene_variant,,ENST00000478320,;AGAP3,downstream_gene_variant,,ENST00000467250,;AGAP3,upstream_gene_variant,,ENST00000473633,;AGAP3,downstream_gene_variant,,ENST00000494808,;	uc003wjg.1	c.1568C>T	1568/3225	2	2			c.1568C>T						7	SNP	c.(1567-1569)CCG>CTG	18	18			central_nervous_system(2)|ovary(1)	3	Broad	centaurin, gamma 3 isoform a			150835302		0.716	ENSG00000133612	368	g.chr7:150835302C>T	regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding							-0.705235	KEEP	3	1	-1	23	21	3	1	-1	6.706467	23	21	0.075	1	0	0	0	0	1	0	0	0	--	--		0	T			AGAP3_uc003wje.1_Intron|AGAP3_uc003wjj.1_Intron|AGAP3_uc003wjk.1_5'Flank	251	GBM-41-2572-TP	p.P523L	C	TGGGCTGGCCCGCGCCCTGAG	NM_031946	NP_114152	150835302	Q96P47	AGAP3_HUMAN	0			12	1571	+	T	T			Missense_Mutation	487			PH.			
AGAP7	0	broad.mit.edu	GRCh37	10	51464835	51464835	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01	TCGA-27-2524-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374095.5:c.1621G>A	p.Glu541Lys	p.E541K	ENST00000374095	NM_001077685.2	541	Gaa/Aaa	0			1			T	E/K	uc001jio.2	protein_coding	YES	CCDS41524.1			1621/1992										0	c.(1621-1623)GAA>AAA			Superfamily_domains:SSF57863,SMART_domains:SM00105,Pfam_domain:PF01412,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF213,PROSITE_profiles:PS50115	ArfGAP with GTPase domain, ankyrin repeat and PH				ENSP00000363208		7-Jul									COSM3397164	7-Jul	.		ENST00000374095	Transcript			regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	ENSG00000204169	g.chr10:51464835C>T	23465			MODERATE		2.665	medium	getma.org/?cm=msa&ty=f&p=AGAP7_HUMAN&rb=441&re=557&var=E541K	getma.org/pdb.php?prot=AGAP7_HUMAN&from=441&to=557&var=E541K	getma.org/?cm=var&var=hg19,10,51464835,C,T&fts=all	E541K	--	--	1																																		PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron	1	1		probably_damaging(0.983)	p.E541K	NM_001077685	NP_001071153		deleterious(0.04)	1	AGAP7_HUMAN	AGAP7	HGNC	Q5VUJ5	AGAP7_HUMAN					7	1747	-			UPI000016167D	541			Arf-GAP.		SNV	AGAP7,missense_variant,p.Glu541Lys,ENST00000374095,NM_001077685.2;	uc001jio.2	c.1621G>A	1747/2420	2	2			c.1621G>A						10	SNP	c.(1621-1623)GAA>AAA	34	34				0	Broad	ArfGAP with GTPase domain, ankyrin repeat and PH			51464835		0.572	ENSG00000204169	370	g.chr10:51464835C>T	regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding							-37.299463	KEEP	4	3	-1	146	135	4	3	-1	7.616938	146	135	0.022599	1	0	0	0	0	1	0	0	0	--	--		0	T			PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron	202	GBM-27-2524-TP	p.E541K	C	ATCCACCGTTCCTTCTCTTCC	NM_001077685	NP_001071153	51464835	Q5VUJ5	AGAP7_HUMAN	0			7	1747	-	T	T			Missense_Mutation	541			Arf-GAP.			
AGAP7	0	broad.mit.edu	GRCh37	10	51465417	51465417	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01	TCGA-76-6285-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374095.5:c.1039G>A	p.Gly347Arg	p.G347R	ENST00000374095	NM_001077685.2	347	Ggg/Agg	0			1			T	G/R	uc001jio.2	protein_coding	YES	CCDS41524.1			1039/1992										0	c.(1039-1041)GGG>AGG			SMART_domains:SM00233,hmmpanther:PTHR23180,Pfam_domain:PF00169,hmmpanther:PTHR23180:SF213,PROSITE_profiles:PS50003	ArfGAP with GTPase domain, ankyrin repeat and PH				ENSP00000363208		7-Jul	4.94E-05					7.57E-05		6.06E-05	rs782263249,COSM918753	7-Jul	.		ENST00000374095	Transcript			regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	ENSG00000204169	g.chr10:51465417C>T	23465			MODERATE		1.745	low	getma.org/?cm=msa&ty=f&p=AGAP7_HUMAN&rb=260&re=420&var=G347R	getma.org/pdb.php?prot=AGAP7_HUMAN&from=260&to=420&var=G347R	getma.org/?cm=var&var=hg19,10,51465417,C,T&fts=all	G347R	--	--	1																																		PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron	0,1	1		benign(0.032)	p.G347R	NM_001077685	NP_001071153		tolerated(0.14)	0,1	AGAP7_HUMAN	AGAP7	HGNC	Q5VUJ5	AGAP7_HUMAN					7	1165	-			UPI000016167D	347			PH.		SNV	AGAP7,missense_variant,p.Gly347Arg,ENST00000374095,NM_001077685.2;	uc001jio.2	c.1039G>A	1165/2420	1	1			c.1039G>A						10	SNP	c.(1039-1041)GGG>AGG	7	7				0	Broad	ArfGAP with GTPase domain, ankyrin repeat and PH			51465417		0.552	ENSG00000204169	370	g.chr10:51465417C>T	regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding							301.611237	KEEP	42	49	-1	18	11	42	49	-1	309.31875	18	11	0.774775	1	0	0	0	0	1	0	0	0	--	--		0	T			PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron	280	GBM-76-6285-TP	p.G347R	C	TCACCCAGCCCGGTGTCCATG	NM_001077685	NP_001071153	51465417	Q5VUJ5	AGAP7_HUMAN	0			7	1165	-	T	T			Missense_Mutation	347			PH.			
AGBL1	123624	broad.mit.edu	GRCh37	15	86838560	86838560	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-02-2485-01	TCGA-02-2485-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000441037.2:c.2157G>A	p.Thr719=	p.T719=	ENST00000441037	NM_152336.2	719	acG/acA	0			1			A	T	uc002blz.1	protein_coding	YES	CCDS58398.1			2157/3201										0	c.(2155-2157)ACG>ACA			Gene3D:3.40.630.10,Pfam_domain:PF00246,hmmpanther:PTHR12756,hmmpanther:PTHR12756:SF5,Superfamily_domains:SSF53187	ATP/GTP binding protein-like 1				ENSP00000413001		16/24									rs765274157,COSM3401985,COSM3401986	16/24	.		ENST00000441037	Transcript	1		C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	ENSG00000166748	g.chr15:86838560G>A	26504			LOW								--	--	1																																		AGBL1_uc002bma.1_Silent_p.T450T|AGBL1_uc002bmb.1_Silent_p.T413T	0,1,1	1			p.T719T	NM_152336	NP_689549			0,1,1	CBPC4_HUMAN	AGBL1	HGNC	Q96MI9	CBPC4_HUMAN			J3KQF5_HUMAN		16	2237	+			UPI0000EC9CE0	719					SNV	AGBL1,synonymous_variant,p.=,ENST00000441037,NM_152336.2;AGBL1,synonymous_variant,p.=,ENST00000421325,;AGBL1,synonymous_variant,p.=,ENST00000389298,;AGBL1-AS1,downstream_gene_variant,,ENST00000564487,;AGBL1-AS1,downstream_gene_variant,,ENST00000566878,;AGBL1,non_coding_transcript_exon_variant,,ENST00000567715,;AGBL1,non_coding_transcript_exon_variant,,ENST00000568785,;	uc002blz.1	c.2157G>A	2252/3508	2	2			c.2157G>A						15	SNP	c.(2155-2157)ACG>ACA	46	46				0	Broad	ATP/GTP binding protein-like 1			86838560		0.507	ENSG00000166748	371	g.chr15:86838560G>A	C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding							-18.776992	KEEP	3	1	-1	55	58	3	1	-1	7.141727	55	58	0.036036	1	0	0	0	0	0	0	1	0	--	--		0	A			AGBL1_uc002bma.1_Silent_p.T450T|AGBL1_uc002bmb.1_Silent_p.T413T	7	GBM-02-2485-TP	p.T719T	G	TCTGCCAGACGCTGGGAGGGA	NM_152336	NP_689549	86838560	Q96MI9	CBPC4_HUMAN	0			16	2237	+	A	A			Silent	719						
AGMO	392636		GRCh37	7	15599842	15599842	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000342526.3:c.181C>A	p.Leu61Ile	p.L61I	ENST00000342526	NM_001004320.1	61	Ctc/Atc	0																																																																																																																																																																																																																																												
AGO2	27161	broad.mit.edu	GRCh37	8	141570507	141570507	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000220592.5:c.621G>A	p.Arg207=	p.R207=	ENST00000220592	NM_012154.3	207	cgG/cgA	0			1			T	R	uc003yvn.2	protein_coding	YES	CCDS6380.1			621/2580										0	c.(619-621)CGG>CGA			Superfamily_domains:SSF101690,Pfam_domain:PF08699,hmmpanther:PTHR22891,hmmpanther:PTHR22891:SF18,HAMAP:MF_03031	argonaute 2 isoform 1				ENSP00000220592		19-May									COSM3319599	19-May	.		ENST00000220592	Transcript			mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity	ENSG00000123908	g.chr8:141570507C>T	3263			LOW								--	--	1																																		EIF2C2_uc010men.2_Silent_p.R130R|EIF2C2_uc010meo.2_Silent_p.R207R	1	1			p.R207R	NM_012154	NP_036286			1	AGO2_HUMAN	AGO2	HGNC	Q9UKV8	AGO2_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.158)		E5RJY2_HUMAN		5	661	-	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	UPI0000168652	207					SNV	AGO2,synonymous_variant,p.=,ENST00000220592,NM_012154.3;AGO2,synonymous_variant,p.=,ENST00000519980,NM_001164623.1;AGO2,3_prime_UTR_variant,,ENST00000523609,;AGO2,upstream_gene_variant,,ENST00000521325,;	uc003yvn.2	c.621G>A	734/3572	2	2			c.621G>A						8	SNP	c.(619-621)CGG>CGA	47	47				0	Broad	argonaute 2 isoform 1			141570507		0.622	ENSG00000123908	4921	g.chr8:141570507C>T	mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity							125.689827	KEEP	21	31	-1	39	52	21	31	-1	127.989383	39	52	0.358779	1	0	0	0	0	0	0	1	0	--	--		0	T			EIF2C2_uc010men.2_Silent_p.R130R|EIF2C2_uc010meo.2_Silent_p.R207R	68	GBM-06-0747-TP	p.R207R	C	AGAGAGAAGGCCGGACGGACT	NM_012154	NP_036286	141570507	Q9UKV8	AGO2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(115;0.158)		5	661	-	T	T	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	Silent	207						
AGO3	192669	broad.mit.edu	GRCh37	1	36505436	36505436	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01	TCGA-06-2564-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373191.4:c.1888G>A	p.Val630Ile	p.V630I	ENST00000373191	NM_024852.3	630	Gta/Ata	0			1			A	V/I	uc001bzp.2	protein_coding	YES	CCDS399.1			1888/2583										0	c.(1888-1890)GTA>ATA			PROSITE_profiles:PS50822,HAMAP:MF_03032,hmmpanther:PTHR22891:SF3,hmmpanther:PTHR22891,Pfam_domain:PF02171,Gene3D:3.30.420.10,SMART_domains:SM00950,Superfamily_domains:SSF53098	eukaryotic translation initiation factor 2C, 3				ENSP00000362287		15/19									COSM2152976	15/19	.		ENST00000373191	Transcript			mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	ENSG00000126070	g.chr1:36505436G>A	18421			MODERATE		1.84	low	getma.org/?cm=msa&ty=f&p=AGO3_HUMAN&rb=518&re=819&var=V630I	getma.org/pdb.php?prot=AGO3_HUMAN&from=518&to=819&var=V630I	getma.org/?cm=var&var=hg19,1,36505436,G,A&fts=all	V630I	--	--	1																																		EIF2C3_uc001bzq.2_Missense_Mutation_p.V396I	1	1		probably_damaging(0.913)	p.V630I	NM_024852	NP_079128		deleterious(0.03)	1	AGO3_HUMAN	AGO3	HGNC	Q9H9G7	AGO3_HUMAN			B4DY67_HUMAN		15	2144	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	UPI0000141361	630			Piwi.		SNV	AGO3,missense_variant,p.Val630Ile,ENST00000373191,NM_024852.3;AGO3,missense_variant,p.Val396Ile,ENST00000246314,NM_177422.2;AGO3,upstream_gene_variant,,ENST00000471099,;	uc001bzp.2	c.1888G>A	2237/19687	2	2			c.1888G>A						1	SNP	c.(1888-1890)GTA>ATA	48	48				0	Broad	eukaryotic translation initiation factor 2C, 3			36505436		0.383	ENSG00000126070	4922	g.chr1:36505436G>A	mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	Colon(144;60 2363 31043 40539)			Colon(144;60 2363 31043 40539)			155.270637	KEEP	33	23	-1	47	46	33	23	-1	156.836904	47	46	0.380952	1	0	0	0	0	1	0	0	0	--	--		0	A			EIF2C3_uc001bzq.2_Missense_Mutation_p.V396I	87	GBM-06-2564-TP	p.V630I	G	CTGTGCCACAGTAAGAGTTCA	NM_024852	NP_079128	36505436	Q9H9G7	AGO3_HUMAN	0			15	2144	+	A	A		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	Missense_Mutation	630			Piwi.			
AGPAT1	10554	broad.mit.edu	GRCh37	6	32138354	32138354	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395499.1:c.358C>T	p.Arg120Cys	p.R120C	ENST00000395499		120	Cgc/Tgc	0			1			A	R/C	uc003oae.2	protein_coding		CCDS4744.1			358/852									central_nervous_system(1)	1	c.(358-360)CGC>TGC			hmmpanther:PTHR10434:SF1,hmmpanther:PTHR10434,TIGRFAM_domain:TIGR00530,Pfam_domain:PF01553,Gene3D:1iuqA02,SMART_domains:SM00563,Superfamily_domains:0039877	1-acylglycerol-3-phosphate O-acyltransferase 1				ENSP00000337463		7-Apr									COSM2149931	7-Apr	.		ENST00000336984	Transcript			energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	ENSG00000204310	g.chr6:32138354G>A	324			MODERATE		3.195	medium	getma.org/?cm=msa&ty=f&p=PLCA_HUMAN&rb=83&re=211&var=R120C	NA	getma.org/?cm=var&var=hg19,6,32138354,G,A&fts=all	R120C	--	--	1																																		PPT2_uc003nzy.1_RNA|AGPAT1_uc011dpj.1_RNA|AGPAT1_uc011dpk.1_Missense_Mutation_p.R84C|AGPAT1_uc003oaf.2_Missense_Mutation_p.R120C|AGPAT1_uc003oag.2_Intron|AGPAT1_uc003oah.2_Missense_Mutation_p.R120C|AGPAT1_uc003oai.1_Missense_Mutation_p.R120C|AGPAT1_uc011dpl.1_Missense_Mutation_p.R8C	1			probably_damaging(0.985)	p.R120C	NM_006411	NP_006402		deleterious(0.03)	1	PLCA_HUMAN	AGPAT1	HGNC	Q99943	PLCA_HUMAN			Q9HBM8_HUMAN,Q71VH6_HUMAN		4	676	-			UPI0000131BD2	120					SNV	AGPAT1,missense_variant,p.Arg120Cys,ENST00000395499,;AGPAT1,missense_variant,p.Arg120Cys,ENST00000375107,NM_006411.3;AGPAT1,missense_variant,p.Arg120Cys,ENST00000395497,;AGPAT1,missense_variant,p.Arg120Cys,ENST00000395496,;AGPAT1,missense_variant,p.Arg120Cys,ENST00000336984,NM_032741.4;AGPAT1,missense_variant,p.Arg120Cys,ENST00000375104,;AGPAT1,missense_variant,p.Arg8Cys,ENST00000412465,;PPT2,downstream_gene_variant,,ENST00000445576,;EGFL8,downstream_gene_variant,,ENST00000395512,;EGFL8,downstream_gene_variant,,ENST00000333845,NM_030652.3;PPT2,downstream_gene_variant,,ENST00000437001,;EGFL8,downstream_gene_variant,,ENST00000432129,;AGPAT1,non_coding_transcript_exon_variant,,ENST00000476663,;AGPAT1,intron_variant,,ENST00000490711,;PPT2-EGFL8,downstream_gene_variant,,ENST00000453656,;EGFL8,downstream_gene_variant,,ENST00000489721,;PPT2-EGFL8,3_prime_UTR_variant,,ENST00000422437,;PPT2-EGFL8,downstream_gene_variant,,ENST00000428388,;EGFL8,downstream_gene_variant,,ENST00000466239,;PPT2-EGFL8,downstream_gene_variant,,ENST00000583227,;PPT2-EGFL8,downstream_gene_variant,,ENST00000585246,;PPT2-EGFL8,downstream_gene_variant,,ENST00000421600,;PPT2-EGFL8,downstream_gene_variant,,ENST00000479001,;EGFL8,downstream_gene_variant,,ENST00000482938,;	uc003oae.2	c.358C>T	463/2021	2	2			c.358C>T						6	SNP	c.(358-360)CGC>TGC	28	28			central_nervous_system(1)	1	Broad	1-acylglycerol-3-phosphate O-acyltransferase 1			32138354		0.652	ENSG00000204310	382	g.chr6:32138354G>A	energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity							103.951652	KEEP	14	25	-1	38	30	14	25	-1	105.677304	38	30	0.354839	1	0	0	0	0	1	0	0	0	--	--		0	A			PPT2_uc003nzy.1_RNA|AGPAT1_uc011dpj.1_RNA|AGPAT1_uc011dpk.1_Missense_Mutation_p.R84C|AGPAT1_uc003oaf.2_Missense_Mutation_p.R120C|AGPAT1_uc003oag.2_Intron|AGPAT1_uc003oah.2_Missense_Mutation_p.R120C|AGPAT1_uc003oai.1_Missense_Mutation_p.R120C|AGPAT1_uc011dpl.1_Missense_Mutation_p.R8C	26	GBM-06-0154-TP	p.R120C	G	GGCACACAGCGGCCTGGCAGT	NM_006411	NP_006402	32138354	Q99943	PLCA_HUMAN	0			4	676	-	A	A			Missense_Mutation	120						
AGPAT6	0	broad.mit.edu	GRCh37	8	41456786	41456786	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01	TCGA-06-0241-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396987.3:c.128G>A	p.Arg43His	p.R43H	ENST00000396987	NM_178819.3	43	cGc/cAc	0			1			A	R/H	uc003xnz.2	protein_coding	YES	CCDS6117.1			128/1371										0	c.(127-129)CGC>CAC				lysophosphatidic acid acyltransferase zeta				ENSP00000380184		13-Feb									COSM486468	13-Feb	.		ENST00000396987	Transcript			acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity	ENSG00000158669	g.chr8:41456786G>A	20880			MODERATE		2.485	medium	getma.org/?cm=msa&ty=f&p=GPAT4_HUMAN&rb=1&re=200&var=R43H	NA	getma.org/?cm=var&var=hg19,8,41456786,G,A&fts=all	R43H	--	--	1																																			1	1		benign(0.382)	p.R43H	NM_178819	NP_848934		tolerated(0.07)	1	GPAT4_HUMAN	AGPAT6	HGNC	Q86UL3	GPAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)		Q8NDD3_HUMAN,Q2TU73_HUMAN,E5RIA1_HUMAN,E5RHA6_HUMAN,E5RGW3_HUMAN		2	1067	+	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	UPI0000047FDD	43					SNV	AGPAT6,missense_variant,p.Arg43His,ENST00000396987,NM_178819.3;AGPAT6,5_prime_UTR_variant,,ENST00000519853,;AGPAT6,downstream_gene_variant,,ENST00000520223,;AGPAT6,downstream_gene_variant,,ENST00000520258,;AGPAT6,downstream_gene_variant,,ENST00000521184,;AGPAT6,downstream_gene_variant,,ENST00000521121,;AGPAT6,missense_variant,p.Arg43His,ENST00000521806,;	uc003xnz.2	c.128G>A	1055/6298	2	2			c.128G>A						8	SNP	c.(127-129)CGC>CAC	36	36				0	Broad	lysophosphatidic acid acyltransferase zeta			41456786		0.433	ENSG00000158669	387	g.chr8:41456786G>A	acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity							-54.348043	KEEP	4	3	-1	166	170	4	3	-1	7.64455	166	170	0.020747	1	0	0	0	0	1	0	0	0	--	--		0	A				57	GBM-06-0241-TP	p.R43H	G	TTTGGTATCCGCAAACTCTAC	NM_178819	NP_848934	41456786	Q86UL3	GPAT4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)		2	1067	+	A	A	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Missense_Mutation	43						
AGRN	375790	broad.mit.edu	GRCh37	1	978952	978952	+	synonymous_variant	Silent	SNP	C	C	T	rs142440782		TCGA-06-0237-01	TCGA-06-0237-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379370.2:c.1638C>T	p.Cys546=	p.C546=	ENST00000379370	NM_198576.3	546	tgC/tgT	0	T:0.0002		1			T	C	uc001ack.1	protein_coding	YES	CCDS30551.1			1638/6138									central_nervous_system(2)|breast(1)	3	c.(1636-1638)TGC>TGT			Prints_domain:PR00011,SMART_domains:SM00057,hmmpanther:PTHR10574:SF227,hmmpanther:PTHR10574,PROSITE_profiles:PS51465	agrin precursor			T:0.0001	ENSP00000368678		Sep-36	4.13E-05	0.000104			0.000154	4.69E-05			rs142440782,COSM2151034	Sep-36	.		ENST00000379370	Transcript	1		axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	ENSG00000188157	g.chr1:978952C>T	329			LOW								--	--	1																																			0,1	1			p.C546C	NM_198576	NP_940978			0,1	AGRIN_HUMAN	AGRN	HGNC	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	Q5XG79_HUMAN		9	1688	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	UPI00001D7C8B	546			Kazal-like 6.		SNV	AGRN,synonymous_variant,p.=,ENST00000379370,NM_198576.3;AGRN,downstream_gene_variant,,ENST00000477585,;AGRN,downstream_gene_variant,,ENST00000469403,;AGRN,upstream_gene_variant,,ENST00000492947,;AGRN,upstream_gene_variant,,ENST00000479707,;AGRN,upstream_gene_variant,,ENST00000466223,;AGRN,upstream_gene_variant,,ENST00000478677,;	uc001ack.1	c.1638C>T	1688/7323	2	2			c.1638C>T						1	SNP	c.(1636-1638)TGC>TGT	48	48			central_nervous_system(2)|breast(1)	3	Broad	agrin precursor			978952		0.692	ENSG00000188157	393	g.chr1:978952C>T	axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton							184.380986	KEEP	40	30	-1	51	44	40	30	-1	185.142682	51	44	0.423841	1	0	0	0	0	0	0	1	0	--	--		0	T				54	GBM-06-0237-TP	p.C546C	C	GAGCCCTGTGCGAGGCCGAGA	NM_198576	NP_940978	978952	O00468	AGRIN_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	9	1688	+	T	T	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	Silent	546			Kazal-like 6.			
AGRN	375790	broad.mit.edu	GRCh37	1	981607	981607	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0875-01	TCGA-06-0875-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379370.2:c.2873G>A	p.Gly958Asp	p.G958D	ENST00000379370	NM_198576.3	958	gGc/gAc	0			1			A	G/D	uc001ack.1	protein_coding	YES	CCDS30551.1			2873/6138									central_nervous_system(2)|breast(1)	3	c.(2872-2874)GGC>GAC			Superfamily_domains:SSF100895,SMART_domains:SM00280,SMART_domains:SM00057,Pfam_domain:PF07648,Gene3D:3.30.60.30,hmmpanther:PTHR10574:SF227,hmmpanther:PTHR10574,PROSITE_profiles:PS51465	agrin precursor				ENSP00000368678		17/36									COSM2151991	17/36	.		ENST00000379370	Transcript	1		axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	ENSG00000188157	g.chr1:981607G>A	329			MODERATE		1.44	low	getma.org/?cm=msa&ty=f&p=AGRIN_HUMAN&rb=928&re=969&var=G958D	getma.org/pdb.php?prot=AGRIN_HUMAN&from=928&to=969&var=G958D	getma.org/?cm=var&var=hg19,1,981607,G,A&fts=all	G958D	--	--	1																																			1	1		probably_damaging(0.982)	p.G958D	NM_198576	NP_940978		tolerated(0.22)	1	AGRIN_HUMAN	AGRN	HGNC	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	Q5XG79_HUMAN		17	2923	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	UPI00001D7C8B	958			Kazal-like 9.		SNV	AGRN,missense_variant,p.Gly958Asp,ENST00000379370,NM_198576.3;AGRN,upstream_gene_variant,,ENST00000419249,;AGRN,non_coding_transcript_exon_variant,,ENST00000479707,;AGRN,downstream_gene_variant,,ENST00000469403,;AGRN,upstream_gene_variant,,ENST00000492947,;AGRN,upstream_gene_variant,,ENST00000466223,;AGRN,upstream_gene_variant,,ENST00000478677,;	uc001ack.1	c.2873G>A	2923/7323	1	1			c.2873G>A						1	SNP	c.(2872-2874)GGC>GAC	59	59			central_nervous_system(2)|breast(1)	3	Broad	agrin precursor			981607		0.612	ENSG00000188157	393	g.chr1:981607G>A	axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton							104.244819	KEEP	45	31	-1	49	67	45	31	-1	106.159699	49	67	0.36036	1	0	0	0	0	1	0	0	0	--	--		0	A				71	GBM-06-0875-TP	p.G958D	G	TGCCGCCAGGGCCTGCAAATC	NM_198576	NP_940978	981607	O00468	AGRIN_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	17	2923	+	A	A	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	Missense_Mutation	958			Kazal-like 9.			
AGRN	375790		GRCh37	1	985841	985841	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000379370.2:c.5011C>T	p.Arg1671Ter	p.R1671*	ENST00000379370	NM_198576.3	1671	Cga/Tga	0																																																																																																																																																																																																																																												
AGTR1	185	broad.mit.edu	GRCh37	3	148459240	148459240	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000542281.1:c.418C>T	p.Arg140Cys	p.R140C	ENST00000542281	NM_031850.3	140	Cgc/Tgc	0			1			T	R/C	uc003ewg.2	protein_coding		CCDS3137.1			418/1080										0	c.(418-420)CGC>TGC			PROSITE_profiles:PS50262,hmmpanther:PTHR24228,hmmpanther:PTHR24228:SF23,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	angiotensin II receptor, type 1	Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)			ENSP00000273430		3-Mar	5.77E-05					0.000106			rs763952495,COSM1039650	3-Mar	.		ENST00000349243	Transcript	1		calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	ENSG00000144891	g.chr3:148459240C>T	336			MODERATE		3.36	medium	getma.org/?cm=msa&ty=f&p=AGTR1_HUMAN&rb=45&re=302&var=R140C	getma.org/pdb.php?prot=AGTR1_HUMAN&from=45&to=302&var=R140C	getma.org/?cm=var&var=hg19,3,148459240,C,T&fts=all	R140C	--	--	1																																		AGTR1_uc003ewh.2_Missense_Mutation_p.R140C|AGTR1_uc003ewi.2_Missense_Mutation_p.R140C|AGTR1_uc003ewj.2_Missense_Mutation_p.R140C|AGTR1_uc003ewk.2_Missense_Mutation_p.R140C	0,1			probably_damaging(1)	p.R140C	NM_031850	NP_114038		deleterious(0)	0,1	AGTR1_HUMAN	AGTR1	HGNC	P30556	AGTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Q53YY0_HUMAN,D3DNG8_HUMAN		4	864	+			UPI0000039D66	140			Cytoplasmic (Potential).		SNV	AGTR1,missense_variant,p.Arg140Cys,ENST00000542281,NM_031850.3;AGTR1,missense_variant,p.Arg140Cys,ENST00000497524,NM_009585.3;AGTR1,missense_variant,p.Arg140Cys,ENST00000349243,NM_000685.4;AGTR1,missense_variant,p.Arg140Cys,ENST00000418473,NM_004835.4;AGTR1,missense_variant,p.Arg140Cys,ENST00000404754,;AGTR1,missense_variant,p.Arg140Cys,ENST00000402260,NM_032049.3;AGTR1,missense_variant,p.Arg140Cys,ENST00000474935,;AGTR1,missense_variant,p.Arg140Cys,ENST00000475347,;AGTR1,missense_variant,p.Arg140Cys,ENST00000461609,;	uc003ewg.2	c.418C>T	806/2356	1	1			c.418C>T						3	SNP	c.(418-420)CGC>TGC	16	16				0	Broad	angiotensin II receptor, type 1		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	148459240		0.473	ENSG00000144891	397	g.chr3:148459240C>T	calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity							314.973075	KEEP	52	60	-1	72	61	52	60	-1	315.165565	72	61	0.468468	1	0	0	0	0	1	0	0	0	--	--		0	T			AGTR1_uc003ewh.2_Missense_Mutation_p.R140C|AGTR1_uc003ewi.2_Missense_Mutation_p.R140C|AGTR1_uc003ewj.2_Missense_Mutation_p.R140C|AGTR1_uc003ewk.2_Missense_Mutation_p.R140C	18	GBM-06-0137-TP	p.R140C	C	CCGCCTTCGACGCACAATGCT	NM_031850	NP_114038	148459240	P30556	AGTR1_HUMAN	0	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		4	864	+	T	T			Missense_Mutation	140			Cytoplasmic (Potential).			
AGTR2	186	broad.mit.edu	GRCh37	X	115303791	115303791	+	synonymous_variant	Silent	SNP	C	C	T	rs13306157		TCGA-06-1804-01	TCGA-06-1804-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371906.4:c.258C>T	p.Leu86=	p.L86=	ENST00000371906	NM_000686.4	86	ctC/ctT	0		T:0	1	T:0		T	L	uc004eqh.3	protein_coding	YES	CCDS14569.1			258/1092									ovary(2)|lung(1)	3	c.(256-258)CTC>CTT			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24228:SF8,hmmpanther:PTHR24228,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	angiotensin II receptor, type 2		T:0.002		ENSP00000360973	T:0	3-Mar	0.000412		0.000215	0.00557		2.09E-05			rs13306157,COSM2152476	3-Mar	common_variant		ENST00000371906	Transcript	1	T:0.0005	behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity	ENSG00000180772	g.chrX:115303791C>T	338			LOW								--	--	1																																			0,1	1			p.L86L	NM_000686	NP_000677	T:0		0,1	AGTR2_HUMAN	AGTR2	HGNC	P50052	AGTR2_HUMAN			Q6UVH2_HUMAN		3	465	+			UPI0000125687	86			Helical; Name=2; (Potential).		SNV	AGTR2,synonymous_variant,p.=,ENST00000371906,NM_000686.4;	uc004eqh.3	c.258C>T	448/2882	2	2			c.258C>T						23	SNP	c.(256-258)CTC>CTT	20	20			ovary(2)|lung(1)	3	Broad	angiotensin II receptor, type 2			115303791		0.378	ENSG00000180772	398	g.chrX:115303791C>T	behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity							112.591236	KEEP	24	22	-1	36	49	24	22	-1	114.533918	36	49	0.357798	1	0	0	0	0	0	0	1	0	--	--		0	T				79	GBM-06-1804-TP	p.L86L	C	TCTTCAACCTCGCTGTGGCTG	NM_000686	NP_000677	115303791	P50052	AGTR2_HUMAN	0			3	465	+	T	T			Silent	86			Helical; Name=2; (Potential).			
AGXT	0	broad.mit.edu	GRCh37	2	241808652	241808652	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-1395-01	TCGA-14-1395-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307503.3:c.231C>T	p.Val77=	p.V77=	ENST00000307503	NM_000030.2	77	gtC/gtT	0			1			T	V	uc002waa.3	protein_coding	YES	CCDS2543.1			231/1179										0	c.(229-231)GTC>GTT			hmmpanther:PTHR21152:SF16,hmmpanther:PTHR21152,Gene3D:3.40.640.10,Pfam_domain:PF00266,PIRSF_domain:PIRSF000524,Superfamily_domains:SSF53383	alanine-glyoxylate aminotransferase	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)			ENSP00000302620		11-Feb									COSM3407745	11-Feb	.		ENST00000307503	Transcript	1		glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	ENSG00000172482	g.chr2:241808652C>T	341			LOW								--	--	1																																		AGXT_uc010zoi.1_Silent_p.V77V	1	1			p.V77V	NM_000030	NP_000021			1	SPYA_HUMAN	AGXT	HGNC	P21549	SPYA_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)			2	352	+		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	UPI0000135E9B	77					SNV	AGXT,synonymous_variant,p.=,ENST00000307503,NM_000030.2;AGXT,non_coding_transcript_exon_variant,,ENST00000472436,;AGXT,upstream_gene_variant,,ENST00000476698,;	uc002waa.3	c.231C>T	618/1865	2	2			c.231C>T						2	SNP	c.(229-231)GTC>GTT	42	42				0	Broad	alanine-glyoxylate aminotransferase		Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	241808652		0.607	ENSG00000172482	400	g.chr2:241808652C>T	glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity							93.62367	KEEP	20	20	-1	32	27	20	20	-1	94.621505	32	27	0.386364	1	0	0	0	0	0	0	1	0	--	--		0	T			AGXT_uc010zoi.1_Silent_p.V77V	144	GBM-14-1395-TP	p.V77V	C	TCACACTGGTCATCTCTGGCT	NM_000030	NP_000021	241808652	P21549	SPYA_HUMAN	0		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	2	352	+	T	T		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	Silent	77						
AGXT	0	broad.mit.edu	GRCh37	2	241808307	241808308	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	rs115014558	byFrequency	TCGA-41-2572-01	TCGA-41-2572-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307503.3:c.33dupC	p.Lys12GlnfsTer156	p.K12Qfs*156	ENST00000307503	NM_000030.2	9	acc/aCcc	0			1			C	T/TX	uc002waa.3	protein_coding	YES	CCDS2543.1			25-26/1179										0	c.(25-27)ACCfs			hmmpanther:PTHR21152:SF16,hmmpanther:PTHR21152,PIRSF_domain:PIRSF000524,Superfamily_domains:SSF53383	alanine-glyoxylate aminotransferase	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)			ENSP00000302620		11-Jan									rs777193616,COSM1406871	11-Jan	.		ENST00000307503	Transcript	1		glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	ENSG00000172482	g.chr2:241808307_241808308insC	341	8		HIGH								--	--	1																																		AGXT_uc010zoi.1_Frame_Shift_Ins_p.T9fs	0,1	1			p.T9fs	NM_000030	NP_000021			0,1	SPYA_HUMAN	AGXT	HGNC	P21549	SPYA_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)			1	146_147	+		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	UPI0000135E9B	9		T -> N (in HP1).			insertion	AGXT,frameshift_variant,p.Lys12GlnfsTer156,ENST00000307503,NM_000030.2;AGXT,non_coding_transcript_exon_variant,,ENST00000472436,;AGXT,upstream_gene_variant,,ENST00000476698,;	uc002waa.3	c.25_26insC	412-413/1865	5	5			c.25_26insC						2	INS	c.(25-27)ACCfs	33	33				0	Broad	alanine-glyoxylate aminotransferase		Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	241808308		0.663	ENSG00000172482	400	g.chr2:241808307_241808308insC	glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity																				0.32	1	0	0	1	1	0	0	0	0	--	--		0	C			AGXT_uc010zoi.1_Frame_Shift_Ins_p.T9fs	251	GBM-41-2572-TP	p.T9fs	-	GCTGCTGGTGACCCCCCCCAAG	NM_000030	NP_000021	241808307	P21549	SPYA_HUMAN	0		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	1	146_147	+	C	C		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	Frame_Shift_Ins	9		T -> N (in HP1).				
AHCYL2	0	broad.mit.edu	GRCh37	7	129062691	129062691	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-6698-01	TCGA-06-6698-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325006.3:c.1472G>T	p.Arg491Leu	p.R491L	ENST00000325006	NM_001130720.2	491	cGg/cTg	0			1			T	R/L	uc011kov.1	protein_coding	YES	CCDS5812.1			1472/1836									ovary(2)	2	c.(1471-1473)CGG>CTG			hmmpanther:PTHR23420:SF2,hmmpanther:PTHR23420,TIGRFAM_domain:TIGR00936,Pfam_domain:PF00670,Gene3D:3.40.50.720,Pfam_domain:PF05221,SMART_domains:SM00996,SMART_domains:SM00997,Superfamily_domains:SSF51735	S-adenosylhomocysteine hydrolase-like 2 isoform				ENSP00000315931		13/17									COSM598996,COSM1144390,COSM3411579	13/17	.		ENST00000325006	Transcript			one-carbon metabolic process		adenosylhomocysteinase activity	ENSG00000158467	g.chr7:129062691G>T	22204			MODERATE		1.72	low	getma.org/?cm=msa&ty=f&p=SAHH3_HUMAN&rb=370&re=531&var=R491L	getma.org/pdb.php?prot=SAHH3_HUMAN&from=370&to=531&var=R491L	getma.org/?cm=var&var=hg19,7,129062691,G,T&fts=all	R491L	--	--	1																																		AHCYL2_uc003vot.2_Missense_Mutation_p.R490L|AHCYL2_uc003vov.2_Missense_Mutation_p.R388L|AHCYL2_uc011kow.1_Missense_Mutation_p.R389L|AHCYL2_uc011kox.1_Missense_Mutation_p.R388L	1,1,1	1		possibly_damaging(0.473)	p.R491L	NM_015328	NP_056143		deleterious(0.02)	1,1,1	SAHH3_HUMAN	AHCYL2	HGNC	Q96HN2	SAHH3_HUMAN					13	1526	+			UPI00001354E4	491					SNV	AHCYL2,missense_variant,p.Arg491Leu,ENST00000325006,NM_001130720.2,NM_015328.3;AHCYL2,missense_variant,p.Arg389Leu,ENST00000446212,NM_001130723.2;AHCYL2,missense_variant,p.Arg490Leu,ENST00000446544,;AHCYL2,missense_variant,p.Arg410Leu,ENST00000531335,;AHCYL2,missense_variant,p.Arg388Leu,ENST00000474594,;AHCYL2,missense_variant,p.Arg388Leu,ENST00000490911,NM_001130722.2;AHCYL2,missense_variant,p.Arg398Leu,ENST00000466924,;AHCYL2,upstream_gene_variant,,ENST00000477028,;	uc011kov.1	c.1472G>T	1526/5056	1	1			c.1472G>T						7	SNP	c.(1471-1473)CGG>CTG	4	4			ovary(2)	2	Broad	S-adenosylhomocysteine hydrolase-like 2 isoform			129062691		0.507	ENSG00000158467	407	g.chr7:129062691G>T	one-carbon metabolic process		adenosylhomocysteinase activity	Pancreas(160;1736 1964 29875 40941 45605)			Pancreas(160;1736 1964 29875 40941 45605)			-33.510689	KEEP	1	3	0.25	90	95	1	3	0.25	6.501473	90	95	0.025	1	0	0	0	0	1	0	0	0	--	--		0	T			AHCYL2_uc003vot.2_Missense_Mutation_p.R490L|AHCYL2_uc003vov.2_Missense_Mutation_p.R388L|AHCYL2_uc011kow.1_Missense_Mutation_p.R389L|AHCYL2_uc011kox.1_Missense_Mutation_p.R388L	112	GBM-06-6698-TP	p.R491L	G	GCGAGTCTGCGGACACCAGAA	NM_015328	NP_056143	129062691	Q96HN2	SAHH3_HUMAN	0			13	1526	+	T	T			Missense_Mutation	491						
AHCYL2	0	broad.mit.edu	GRCh37	7	129040182	129040182	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01	TCGA-41-3392-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325006.3:c.875G>A	p.Cys292Tyr	p.C292Y	ENST00000325006	NM_001130720.2	292	tGt/tAt	0			1			A	C/Y	uc011kov.1	protein_coding	YES	CCDS5812.1			875/1836									ovary(2)	2	c.(874-876)TGT>TAT			hmmpanther:PTHR23420:SF2,hmmpanther:PTHR23420,TIGRFAM_domain:TIGR00936,Gene3D:3.40.50.1480,Pfam_domain:PF05221,SMART_domains:SM00996,Superfamily_domains:SSF52283	S-adenosylhomocysteine hydrolase-like 2 isoform				ENSP00000315931		17-Jun									COSM3411576,COSM3411577,COSM3411578	17-Jun	.		ENST00000325006	Transcript			one-carbon metabolic process		adenosylhomocysteinase activity	ENSG00000158467	g.chr7:129040182G>A	22204			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=SAHH3_HUMAN&rb=184&re=610&var=C292Y	getma.org/pdb.php?prot=SAHH3_HUMAN&from=184&to=610&var=C292Y	getma.org/?cm=var&var=hg19,7,129040182,G,A&fts=all	C292Y	--	--	1																																		AHCYL2_uc003vot.2_Missense_Mutation_p.C291Y|AHCYL2_uc003vov.2_Missense_Mutation_p.C189Y|AHCYL2_uc011kow.1_Missense_Mutation_p.C190Y|AHCYL2_uc011kox.1_Missense_Mutation_p.C189Y	1,1,1	1		probably_damaging(0.992)	p.C292Y	NM_015328	NP_056143		tolerated(0.07)	1,1,1	SAHH3_HUMAN	AHCYL2	HGNC	Q96HN2	SAHH3_HUMAN					6	929	+			UPI00001354E4	292					SNV	AHCYL2,missense_variant,p.Cys292Tyr,ENST00000325006,NM_001130720.2,NM_015328.3;AHCYL2,missense_variant,p.Cys190Tyr,ENST00000446212,NM_001130723.2;AHCYL2,missense_variant,p.Cys291Tyr,ENST00000446544,;AHCYL2,missense_variant,p.Cys211Tyr,ENST00000531335,;AHCYL2,missense_variant,p.Cys189Tyr,ENST00000474594,;AHCYL2,missense_variant,p.Cys189Tyr,ENST00000490911,NM_001130722.2;AHCYL2,missense_variant,p.Cys199Tyr,ENST00000466924,;AHCYL2,downstream_gene_variant,,ENST00000466993,;AHCYL2,downstream_gene_variant,,ENST00000472554,;AHCYL2,downstream_gene_variant,,ENST00000461161,;AHCYL2,non_coding_transcript_exon_variant,,ENST00000491079,;AHCYL2,non_coding_transcript_exon_variant,,ENST00000492628,;	uc011kov.1	c.875G>A	929/5056	2	2			c.875G>A						7	SNP	c.(874-876)TGT>TAT	35	35			ovary(2)	2	Broad	S-adenosylhomocysteine hydrolase-like 2 isoform			129040182		0.463	ENSG00000158467	407	g.chr7:129040182G>A	one-carbon metabolic process		adenosylhomocysteinase activity	Pancreas(160;1736 1964 29875 40941 45605)			Pancreas(160;1736 1964 29875 40941 45605)			88.460044	KEEP	31	26	-1	140	122	31	26	-1	115.09909	140	122	0.175373	1	0	0	0	0	1	0	0	0	--	--		0	A			AHCYL2_uc003vot.2_Missense_Mutation_p.C291Y|AHCYL2_uc003vov.2_Missense_Mutation_p.C189Y|AHCYL2_uc011kow.1_Missense_Mutation_p.C190Y|AHCYL2_uc011kox.1_Missense_Mutation_p.C189Y	254	GBM-41-3392-TP	p.C292Y	G	TTTTGGTGGTGTATCGATAGA	NM_015328	NP_056143	129040182	Q96HN2	SAHH3_HUMAN	0			6	929	+	A	A			Missense_Mutation	292						
AHI1	54806		GRCh37	6	135748441	135748441	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000367800.4:c.2628A>G	p.Glu876=	p.E876=	ENST00000367800	NM_001134830.1	876	gaA/gaG	0																																																																																																																																																																																																																																												
AHNAK	79026	broad.mit.edu	GRCh37	11	62285595	62285595	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01	TCGA-06-0173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378024.4:c.16294G>A	p.Glu5432Lys	p.E5432K	ENST00000378024	NM_001620.2	5432	Gaa/Aaa	0			1			T	E/K	uc001ntl.2	protein_coding	YES	CCDS31584.1			16294/17673									ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19	c.(16294-16296)GAA>AAA			hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF40	AHNAK nucleoprotein isoform 1				ENSP00000367263		5-May									COSM3397984	5-May	.		ENST00000378024	Transcript			nervous system development	nucleus	protein binding	ENSG00000124942	g.chr11:62285595C>T	347			MODERATE		0.51	neutral	getma.org/?cm=msa&ty=f&p=AHNK_HUMAN&rb=5401&re=5600&var=E5432K	NA	getma.org/?cm=var&var=hg19,11,62285595,C,T&fts=all	E5432K	--	--	1																																		AHNAK_uc001ntk.1_Intron	1	1		possibly_damaging(0.894)	p.E5432K	NM_001620	NP_001611			1	AHNK_HUMAN	AHNAK	HGNC	Q09666	AHNK_HUMAN			E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN		5	16594	-		Melanoma(852;0.155)	UPI00004EC29C	5432					SNV	AHNAK,missense_variant,p.Glu5432Lys,ENST00000378024,NM_001620.2;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,upstream_gene_variant,,ENST00000525875,;	uc001ntl.2	c.16294G>A	16569/18787	2	2			c.16294G>A						11	SNP	c.(16294-16296)GAA>AAA	31	31			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19	Broad	AHNAK nucleoprotein isoform 1			62285595		0.527	ENSG00000124942	410	g.chr11:62285595C>T	nervous system development	nucleus	protein binding							-26.819988	KEEP	2	3	-1	76	76	2	3	-1	6.865411	76	76	0.028986	1	0	0	0	0	1	0	0	0	--	--		0	T			AHNAK_uc001ntk.1_Intron	36	GBM-06-0173-TP	p.E5432K	C	CCCTTCAGTTCGCCAGAAACC	NM_001620	NP_001611	62285595	Q09666	AHNK_HUMAN	0			5	16594	-	T	T		Melanoma(852;0.155)	Missense_Mutation	5432						
AHNAK	79026	broad.mit.edu	GRCh37	11	62298733	62298733	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0745-01	TCGA-06-0745-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378024.4:c.3156C>T	p.Gly1052=	p.G1052=	ENST00000378024	NM_001620.2	1052	ggC/ggT	0			1			A	G	uc001ntl.2	protein_coding	YES	CCDS31584.1			3156/17673									ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19	c.(3154-3156)GGC>GGT			hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF40	AHNAK nucleoprotein isoform 1				ENSP00000367263		5-May									COSM2151709	5-May	.		ENST00000378024	Transcript			nervous system development	nucleus	protein binding	ENSG00000124942	g.chr11:62298733G>A	347			LOW								--	--	1																																		AHNAK_uc001ntk.1_Intron	1	1			p.G1052G	NM_001620	NP_001611			1	AHNK_HUMAN	AHNAK	HGNC	Q09666	AHNK_HUMAN			E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN		5	3456	-		Melanoma(852;0.155)	UPI00004EC29C	1052					SNV	AHNAK,synonymous_variant,p.=,ENST00000378024,NM_001620.2;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,downstream_gene_variant,,ENST00000530285,;AHNAK,downstream_gene_variant,,ENST00000531324,;AHNAK,downstream_gene_variant,,ENST00000528508,;	uc001ntl.2	c.3156C>T	3431/18787	2	2			c.3156C>T						11	SNP	c.(3154-3156)GGC>GGT	21	21			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19	Broad	AHNAK nucleoprotein isoform 1			62298733		0.443	ENSG00000124942	410	g.chr11:62298733G>A	nervous system development	nucleus	protein binding							238.97822	KEEP	49	33	-1	66	29	49	33	-1	239.258358	66	29	0.457143	1	0	0	0	0	0	0	1	0	--	--		0	A			AHNAK_uc001ntk.1_Intron	67	GBM-06-0745-TP	p.G1052G	G	TAAACTTCGGGCCTTTCAACT	NM_001620	NP_001611	62298733	Q09666	AHNK_HUMAN	0			5	3456	-	A	A		Melanoma(852;0.155)	Silent	1052						
AHNAK	79026	broad.mit.edu	GRCh37	11	62286891	62286891	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-5856-01	TCGA-06-5856-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378024.4:c.14998G>C	p.Val5000Leu	p.V5000L	ENST00000378024	NM_001620.2	5000	Gtt/Ctt	0			1			G	V/L	uc001ntl.2	protein_coding	YES	CCDS31584.1			14998/17673									ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19	c.(14998-15000)GTT>CTT			hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF40	AHNAK nucleoprotein isoform 1				ENSP00000367263		5-May									COSM3397985	5-May	.		ENST00000378024	Transcript			nervous system development	nucleus	protein binding	ENSG00000124942	g.chr11:62286891C>G	347			MODERATE		1.265	low	getma.org/?cm=msa&ty=f&p=AHNK_HUMAN&rb=4801&re=5000&var=V5000L	NA	getma.org/?cm=var&var=hg19,11,62286891,C,G&fts=all	V5000L	--	--	1																																		AHNAK_uc001ntk.1_Intron	1	1		benign(0.012)	p.V5000L	NM_001620	NP_001611			1	AHNK_HUMAN	AHNAK	HGNC	Q09666	AHNK_HUMAN			E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN		5	15298	-		Melanoma(852;0.155)	UPI00004EC29C	5000					SNV	AHNAK,missense_variant,p.Val5000Leu,ENST00000378024,NM_001620.2;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,upstream_gene_variant,,ENST00000525875,;	uc001ntl.2	c.14998G>C	15273/18787	3	3			c.14998G>C						11	SNP	c.(14998-15000)GTT>CTT	62	62			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19	Broad	AHNAK nucleoprotein isoform 1			62286891		0.433	ENSG00000124942	410	g.chr11:62286891C>G	nervous system development	nucleus	protein binding							-4.757509	KEEP	2	5	-1	45	75	2	5	-1	19.207543	45	75	0.059322	1	0	0	0	0	1	0	0	0	--	--		0	G			AHNAK_uc001ntk.1_Intron	101	GBM-06-5856-TP	p.V5000L	C	GCCTCAGGAACAGTGACATCC	NM_001620	NP_001611	62286891	Q09666	AHNK_HUMAN	0			5	15298	-	G	G		Melanoma(852;0.155)	Missense_Mutation	5000						
AHNAK	0	broad.mit.edu	GRCh37	11	62299512	62299512	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-19-1790-01	TCGA-19-1790-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378024.4:c.2377A>T	p.Ser793Cys	p.S793C	ENST00000378024	NM_001620.2	793	Agc/Tgc	0			1			A	S/C	uc001ntl.2	protein_coding	YES	CCDS31584.1			2377/17673									ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19	c.(2377-2379)AGC>TGC			hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF40	AHNAK nucleoprotein isoform 1				ENSP00000367263		5-May									COSM2156108	5-May	.		ENST00000378024	Transcript			nervous system development	nucleus	protein binding	ENSG00000124942	g.chr11:62299512T>A	347			MODERATE		2.395	medium	getma.org/?cm=msa&ty=f&p=AHNK_HUMAN&rb=601&re=800&var=S793C	NA	getma.org/?cm=var&var=hg19,11,62299512,T,A&fts=all	S793C	--	--	1																																		AHNAK_uc001ntk.1_Intron	1	1		possibly_damaging(0.879)	p.S793C	NM_001620	NP_001611			1	AHNK_HUMAN	AHNAK	HGNC	Q09666	AHNK_HUMAN			E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN		5	2677	-		Melanoma(852;0.155)	UPI00004EC29C	793					SNV	AHNAK,missense_variant,p.Ser793Cys,ENST00000378024,NM_001620.2;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,downstream_gene_variant,,ENST00000530285,;AHNAK,downstream_gene_variant,,ENST00000531324,;AHNAK,downstream_gene_variant,,ENST00000528508,;	uc001ntl.2	c.2377A>T	2652/18787	2	2			c.2377A>T						11	SNP	c.(2377-2379)AGC>TGC	36	36			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19	Broad	AHNAK nucleoprotein isoform 1			62299512		0.502	ENSG00000124942	410	g.chr11:62299512T>A	nervous system development	nucleus	protein binding							137.582015	KEEP	30	37	-1	105	140	30	37	-1	160.517121	105	140	0.210169	1	0	0	0	0	1	0	0	0	--	--		0	A			AHNAK_uc001ntk.1_Intron	160	GBM-19-1790-TP	p.S793C	T	TCCTCAATGCTCACATCAGGA	NM_001620	NP_001611	62299512	Q09666	AHNK_HUMAN	0			5	2677	-	A	A		Melanoma(852;0.155)	Missense_Mutation	793						
AHNAK	0	broad.mit.edu	GRCh37	11	62288237	62288237	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378024.4:c.13652C>T	p.Pro4551Leu	p.P4551L	ENST00000378024	NM_001620.2	4551	cCc/cTc	0			1			A	P/L	uc001ntl.2	protein_coding	YES	CCDS31584.1			13652/17673									ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19	c.(13651-13653)CCC>CTC			hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF40,Low_complexity_(Seg):seg	AHNAK nucleoprotein isoform 1				ENSP00000367263		5-May									COSM3397986	5-May	.		ENST00000378024	Transcript			nervous system development	nucleus	protein binding	ENSG00000124942	g.chr11:62288237G>A	347			MODERATE		3.425	medium	getma.org/?cm=msa&ty=f&p=AHNK_HUMAN&rb=4401&re=4600&var=P4551L	NA	getma.org/?cm=var&var=hg19,11,62288237,G,A&fts=all	P4551L	--	--	1																																		AHNAK_uc001ntk.1_Intron	1	1		possibly_damaging(0.905)	p.P4551L	NM_001620	NP_001611			1	AHNK_HUMAN	AHNAK	HGNC	Q09666	AHNK_HUMAN			E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN		5	13952	-		Melanoma(852;0.155)	UPI00004EC29C	4551					SNV	AHNAK,missense_variant,p.Pro4551Leu,ENST00000378024,NM_001620.2;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,upstream_gene_variant,,ENST00000525875,;	uc001ntl.2	c.13652C>T	13927/18787	2	2			c.13652C>T						11	SNP	c.(13651-13653)CCC>CTC	39	39			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19	Broad	AHNAK nucleoprotein isoform 1			62288237		0.423	ENSG00000124942	410	g.chr11:62288237G>A	nervous system development	nucleus	protein binding							131.336889	KEEP	24	29	-1	80	90	24	29	-1	145.051256	80	90	0.234742	1	0	0	0	0	1	0	0	0	--	--		0	A			AHNAK_uc001ntk.1_Intron	220	GBM-28-5213-TP	p.P4551L	G	ATCCACTTTGGGACCTTTCAG	NM_001620	NP_001611	62288237	Q09666	AHNK_HUMAN	0			5	13952	-	A	A		Melanoma(852;0.155)	Missense_Mutation	4551						
AHNAK	0	broad.mit.edu	GRCh37	11	62297453	62297453	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-32-4210-01	TCGA-32-4210-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378024.4:c.4436A>T	p.Glu1479Val	p.E1479V	ENST00000378024	NM_001620.2	1479	gAg/gTg	0			1			A	E/V	uc001ntl.2	protein_coding	YES	CCDS31584.1			4436/17673									ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19	c.(4435-4437)GAG>GTG			hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF40	AHNAK nucleoprotein isoform 1				ENSP00000367263		5-May									COSM3397987	5-May	.		ENST00000378024	Transcript			nervous system development	nucleus	protein binding	ENSG00000124942	g.chr11:62297453T>A	347			MODERATE		3.065	medium	getma.org/?cm=msa&ty=f&p=AHNK_HUMAN&rb=1401&re=1600&var=E1479V	NA	getma.org/?cm=var&var=hg19,11,62297453,T,A&fts=all	E1479V	--	--	1																																		AHNAK_uc001ntk.1_Intron	1	1		probably_damaging(0.962)	p.E1479V	NM_001620	NP_001611			1	AHNK_HUMAN	AHNAK	HGNC	Q09666	AHNK_HUMAN			E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN		5	4736	-		Melanoma(852;0.155)	UPI00004EC29C	1479					SNV	AHNAK,missense_variant,p.Glu1479Val,ENST00000378024,NM_001620.2;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,downstream_gene_variant,,ENST00000530285,;AHNAK,downstream_gene_variant,,ENST00000528508,;	uc001ntl.2	c.4436A>T	4711/18787	2	2			c.4436A>T						11	SNP	c.(4435-4437)GAG>GTG	21	21			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19	Broad	AHNAK nucleoprotein isoform 1			62297453		0.418	ENSG00000124942	410	g.chr11:62297453T>A	nervous system development	nucleus	protein binding							342.024428	KEEP	52	78	-1	107	121	52	78	-1	346.326512	107	121	0.379104	1	0	0	0	0	1	0	0	0	--	--		0	A			AHNAK_uc001ntk.1_Intron	245	GBM-32-4210-TP	p.E1479V	T	AGCTTTTATCTCTCCTTCTAC	NM_001620	NP_001611	62297453	Q09666	AHNK_HUMAN	0			5	4736	-	A	A		Melanoma(852;0.155)	Missense_Mutation	1479						
AHNAK	79026		GRCh37	11	62296010	62296010	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-2510-01	TCGA-28-2510-01																				ENST00000378024.4:c.5879T>C	p.Val1960Ala	p.V1960A	ENST00000378024	NM_001620.2	1960	gTg/gCg	0																																																																																																																																																																																																																																												
AHNAK2	113146	broad.mit.edu	GRCh37	14	105420774	105420774	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333244.5:c.1014G>A	p.Ser338=	p.S338=	ENST00000333244	NM_138420.2	338	tcG/tcA	0			1			T	S	uc010axc.1	protein_coding	YES	CCDS45177.1			1014/17388									ovary(1)	1	c.(1012-1014)TCG>TCA			hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37,Low_complexity_(Seg):seg	AHNAK nucleoprotein 2				ENSP00000353114		7-Jul	1.66E-05	0.000107				1.56E-05			rs777140241,COSM3401165	7-Jul	.		ENST00000333244	Transcript				nucleus		ENSG00000185567	g.chr14:105420774C>T	20125			LOW								--	--	1																																		AHNAK2_uc001ypx.2_Silent_p.S238S	0,1	1			p.S338S	NM_138420	NP_612429			0,1	AHNK2_HUMAN	AHNAK2	HGNC	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)				7	1134	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	UPI00015BB2CA	338					SNV	AHNAK2,synonymous_variant,p.=,ENST00000333244,NM_138420.2;AHNAK2,upstream_gene_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555544,;	uc010axc.1	c.1014G>A	1134/18254	2	2			c.1014G>A						14	SNP	c.(1012-1014)TCG>TCA	42	42			ovary(1)	1	Broad	AHNAK nucleoprotein 2			105420774		0.667	ENSG00000185567	411	g.chr14:105420774C>T		nucleus								68.252411	KEEP	11	12	-1	8	13	11	12	-1	68.45917	8	13	0.578947	1	0	0	0	0	0	0	1	0	--	--		0	T			AHNAK2_uc001ypx.2_Silent_p.S238S	12	GBM-06-0125-TP	p.S338S	C	GCTGTCCTGTCGATGAAGGGC	NM_138420	NP_612429	105420774	Q8IVF2	AHNK2_HUMAN	0	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	1134	-	T	T		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	Silent	338						
AHNAK2	113146	broad.mit.edu	GRCh37	14	105412495	105412495	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01	TCGA-06-0174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333244.5:c.9293C>T	p.Thr3098Met	p.T3098M	ENST00000333244	NM_138420.2	3098	aCg/aTg	0			1			A	T/M	uc010axc.1	protein_coding	YES	CCDS45177.1			9293/17388									ovary(1)	1	c.(9292-9294)ACG>ATG			hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37	AHNAK nucleoprotein 2				ENSP00000353114		7-Jul	8.28E-05					4.51E-05		0.000425	rs374657511,COSM3401154	7-Jul	common_variant		ENST00000333244	Transcript				nucleus		ENSG00000185567	g.chr14:105412495G>A	20125			MODERATE		1.35	low	getma.org/?cm=msa&ty=f&p=AHNK2_HUMAN&rb=3001&re=3200&var=T3098M	NA	getma.org/?cm=var&var=hg19,14,105412495,G,A&fts=all	T3098M	--	--	1																																		AHNAK2_uc001ypx.2_Missense_Mutation_p.T2998M	0,1	1		benign(0.081)	p.T3098M	NM_138420	NP_612429			0,1	AHNK2_HUMAN	AHNAK2	HGNC	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)				7	9413	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	UPI00015BB2CA	3098					SNV	AHNAK2,missense_variant,p.Thr3098Met,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	uc010axc.1	c.9293C>T	9413/18254	1	1			c.9293C>T						14	SNP	c.(9292-9294)ACG>ATG	56	56			ovary(1)	1	Broad	AHNAK nucleoprotein 2			105412495		0.627	ENSG00000185567	411	g.chr14:105412495G>A		nucleus								-31.34391	KEEP	2	5	-1	119	121	2	5	-1	9.426391	119	121	0.029762	1	0	0	0	0	1	0	0	0	--	--		0	A			AHNAK2_uc001ypx.2_Missense_Mutation_p.T2998M	37	GBM-06-0174-TP	p.T3098M	G	GTCGGGGGCCGTCACGTCCGT	NM_138420	NP_612429	105412495	Q8IVF2	AHNK2_HUMAN	0	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	9413	-	A	A		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	Missense_Mutation	3098						
AHNAK2	113146	broad.mit.edu	GRCh37	14	105410846	105410846	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0648-01	TCGA-06-0648-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333244.5:c.10942T>C	p.Phe3648Leu	p.F3648L	ENST00000333244	NM_138420.2	3648	Ttc/Ctc	0			1			G	F/L	uc010axc.1	protein_coding	YES	CCDS45177.1			10942/17388									ovary(1)	1	c.(10942-10944)TTC>CTC			hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37,Low_complexity_(Seg):seg	AHNAK nucleoprotein 2				ENSP00000353114		7-Jul									COSM2151352	7-Jul	.		ENST00000333244	Transcript				nucleus		ENSG00000185567	g.chr14:105410846A>G	20125			MODERATE		2.16	medium	getma.org/?cm=msa&ty=f&p=AHNK2_HUMAN&rb=3601&re=3800&var=F3648L	NA	getma.org/?cm=var&var=hg19,14,105410846,A,G&fts=all	F3648L	--	--	1																																		AHNAK2_uc001ypx.2_Missense_Mutation_p.F3548L	1	1		probably_damaging(0.916)	p.F3648L	NM_138420	NP_612429			1	AHNK2_HUMAN	AHNAK2	HGNC	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)				7	11062	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	UPI00015BB2CA	3648					SNV	AHNAK2,missense_variant,p.Phe3648Leu,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	uc010axc.1	c.10942T>C	11062/18254	3	3			c.10942T>C						14	SNP	c.(10942-10944)TTC>CTC	4	4			ovary(1)	1	Broad	AHNAK nucleoprotein 2			105410846		0.592	ENSG00000185567	411	g.chr14:105410846A>G		nucleus								462.068904	KEEP	74	69	-1	110	113	74	69	-1	465.546401	110	113	0.391045	1	0	0	0	0	1	0	0	0	--	--		0	G			AHNAK2_uc001ypx.2_Missense_Mutation_p.F3548L	61	GBM-06-0648-TP	p.F3648L	A	GATACCCTGAATGACGGCATC	NM_138420	NP_612429	105410846	Q8IVF2	AHNK2_HUMAN	0	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	11062	-	G	G		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	Missense_Mutation	3648						
AHNAK2	113146	broad.mit.edu	GRCh37	14	105417866	105417866	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0648-01	TCGA-06-0648-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333244.5:c.3922G>A	p.Ala1308Thr	p.A1308T	ENST00000333244	NM_138420.2	1308	Gca/Aca	0		T:0	1	T:0		T	A/T	uc010axc.1	protein_coding	YES	CCDS45177.1			3922/17388									ovary(1)	1	c.(3922-3924)GCA>ACA			hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37	AHNAK nucleoprotein 2		T:0		ENSP00000353114	T:0	7-Jul	5.75E-05			0.000351		4.07E-05		7.73E-05	rs532275274,COSM3401161	7-Jul	.		ENST00000333244	Transcript		T:0.0002		nucleus		ENSG00000185567	g.chr14:105417866C>T	20125			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=AHNK2_HUMAN&rb=1201&re=1400&var=A1308T	NA	getma.org/?cm=var&var=hg19,14,105417866,C,T&fts=all	A1308T	--	--	1																																		AHNAK2_uc001ypx.2_Missense_Mutation_p.A1208T	0,1	1		possibly_damaging(0.695)	p.A1308T	NM_138420	NP_612429	T:0.001		0,1	AHNK2_HUMAN	AHNAK2	HGNC	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)				7	4042	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	UPI00015BB2CA	1308					SNV	AHNAK2,missense_variant,p.Ala1308Thr,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,;	uc010axc.1	c.3922G>A	4042/18254	2	2			c.3922G>A						14	SNP	c.(3922-3924)GCA>ACA	28	28			ovary(1)	1	Broad	AHNAK nucleoprotein 2			105417866		0.597	ENSG00000185567	411	g.chr14:105417866C>T		nucleus								-65.266258	KEEP	3	3	-1	143	149	3	3	-1	7.535024	143	149	0.017986	1	0	0	0	0	1	0	0	0	--	--		0	T			AHNAK2_uc001ypx.2_Missense_Mutation_p.A1208T	61	GBM-06-0648-TP	p.A1308T	C	TCCAGCTGTGCGCCATCCAAC	NM_138420	NP_612429	105417866	Q8IVF2	AHNK2_HUMAN	0	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	4042	-	T	T		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	Missense_Mutation	1308						
AHNAK2	113146	broad.mit.edu	GRCh37	14	105420083	105420083	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0649-01	TCGA-06-0649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333244.5:c.1705C>G	p.Gln569Glu	p.Q569E	ENST00000333244	NM_138420.2	569	Cag/Gag	0			1			C	Q/E	uc010axc.1	protein_coding	YES	CCDS45177.1			1705/17388									ovary(1)	1	c.(1705-1707)CAG>GAG			hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37	AHNAK nucleoprotein 2				ENSP00000353114		7-Jul									COSM3401164	7-Jul	.		ENST00000333244	Transcript				nucleus		ENSG00000185567	g.chr14:105420083G>C	20125			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=AHNK2_HUMAN&rb=401&re=600&var=Q569E	NA	getma.org/?cm=var&var=hg19,14,105420083,G,C&fts=all	Q569E	--	--	1																																		AHNAK2_uc001ypx.2_Missense_Mutation_p.Q469E	1	1		benign(0.017)	p.Q569E	NM_138420	NP_612429			1	AHNK2_HUMAN	AHNAK2	HGNC	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)				7	1825	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	UPI00015BB2CA	569					SNV	AHNAK2,missense_variant,p.Gln569Glu,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555544,;	uc010axc.1	c.1705C>G	1825/18254	4	4			c.1705C>G						14	SNP	c.(1705-1707)CAG>GAG	35	35			ovary(1)	1	Broad	AHNAK nucleoprotein 2			105420083		0.542	ENSG00000185567	411	g.chr14:105420083G>C		nucleus								-9.392652	KEEP	11	5	-1	168	85	11	5	-1	40.835167	168	85	0.063241	1	0	0	0	0	1	0	0	0	--	--		0	C			AHNAK2_uc001ypx.2_Missense_Mutation_p.Q469E	62	GBM-06-0649-TP	p.Q569E	G	CCCTTGTCCTGTTCCTCAGTG	NM_138420	NP_612429	105420083	Q8IVF2	AHNK2_HUMAN	0	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	1825	-	C	C		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	Missense_Mutation	569						
AHNAK2	113146	broad.mit.edu	GRCh37	14	105409046	105409046	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01	TCGA-06-0744-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333244.5:c.12742C>T	p.Pro4248Ser	p.P4248S	ENST00000333244	NM_138420.2	4248	Ccc/Tcc	0			1			A	P/S	uc010axc.1	protein_coding	YES	CCDS45177.1			12742/17388									ovary(1)	1	c.(12742-12744)CCC>TCC			hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37	AHNAK nucleoprotein 2				ENSP00000353114		7-Jul									COSM2151658	7-Jul	.		ENST00000333244	Transcript				nucleus		ENSG00000185567	g.chr14:105409046G>A	20125			MODERATE		3	medium	getma.org/?cm=msa&ty=f&p=AHNK2_HUMAN&rb=4201&re=4400&var=P4248S	NA	getma.org/?cm=var&var=hg19,14,105409046,G,A&fts=all	P4248S	--	--	1																																		AHNAK2_uc001ypx.2_Missense_Mutation_p.P4148S	1	1		benign(0.213)	p.P4248S	NM_138420	NP_612429			1	AHNK2_HUMAN	AHNAK2	HGNC	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)				7	12862	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	UPI00015BB2CA	4248					SNV	AHNAK2,missense_variant,p.Pro4248Ser,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	uc010axc.1	c.12742C>T	12862/18254	2	2			c.12742C>T						14	SNP	c.(12742-12744)CCC>TCC	36	36			ovary(1)	1	Broad	AHNAK nucleoprotein 2			105409046		0.647	ENSG00000185567	411	g.chr14:105409046G>A		nucleus								421.786621	KEEP	84	60	-1	119	82	84	60	-1	423.586994	119	82	0.419255	1	0	0	0	0	1	0	0	0	--	--		0	A			AHNAK2_uc001ypx.2_Missense_Mutation_p.P4148S	66	GBM-06-0744-TP	p.P4248S	G	TCCGCCTTGGGGCCTTTCAGG	NM_138420	NP_612429	105409046	Q8IVF2	AHNK2_HUMAN	0	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	12862	-	A	A		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	Missense_Mutation	4248						
AHNAK2	113146	broad.mit.edu	GRCh37	14	105404844	105404844	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333244.5:c.16944G>A	p.Trp5648Ter	p.W5648*	ENST00000333244	NM_138420.2	5648	tgG/tgA	0			1			T	W/*	uc010axc.1	protein_coding	YES	CCDS45177.1			16944/17388									ovary(1)	1	c.(16942-16944)TGG>TGA				AHNAK nucleoprotein 2				ENSP00000353114		7-Jul									COSM2151866,COSM2151865	7-Jul	.		ENST00000333244	Transcript				nucleus		ENSG00000185567	g.chr14:105404844C>T	20125			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,14,105404844,C,T&fts=all	W5648*	--	--	1																																		AHNAK2_uc001ypx.2_Nonsense_Mutation_p.W5548*	1,1	1			p.W5648*	NM_138420	NP_612429			1,1	AHNK2_HUMAN	AHNAK2	HGNC	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)				7	17064	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	UPI00015BB2CA	5648					SNV	AHNAK2,stop_gained,p.Trp5648Ter,ENST00000333244,NM_138420.2;AHNAK2,stop_gained,p.Trp646Ter,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	uc010axc.1	c.16944G>A	17064/18254	5	2			c.16944G>A						14	SNP	c.(16942-16944)TGG>TGA	41	41			ovary(1)	1	Broad	AHNAK nucleoprotein 2			105404844		0.478	ENSG00000185567	411	g.chr14:105404844C>T		nucleus								97.128584	KEEP	18	14	-1	10	13	18	14	-1	97.461097	10	13	0.584906	1	0	0	0	0	0	1	0	0	--	--		0	T			AHNAK2_uc001ypx.2_Nonsense_Mutation_p.W5548*	68	GBM-06-0747-TP	p.W5648*	C	TGTTTGGAAGCCAAAACCAGA	NM_138420	NP_612429	105404844	Q8IVF2	AHNK2_HUMAN	0	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	17064	-	T	T		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	Nonsense_Mutation	5648						
AHNAK2	113146	broad.mit.edu	GRCh37	14	105417146	105417146	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5408-01	TCGA-06-5408-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333244.5:c.4642G>A	p.Ala1548Thr	p.A1548T	ENST00000333244	NM_138420.2	1548	Gct/Act	0	T:0.0003	T:0	1	T:0		T	A/T	uc010axc.1	protein_coding	YES	CCDS45177.1			4642/17388									ovary(1)	1	c.(4642-4644)GCT>ACT			hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37	AHNAK nucleoprotein 2		T:0	T:0	ENSP00000353114	T:0	7-Jul	0.000275	0.00105				0.000169		0.000674	rs369187097,COSM3401159	7-Jul	common_variant		ENST00000333244	Transcript		T:0.0004		nucleus		ENSG00000185567	g.chr14:105417146C>T	20125			MODERATE		1.9	low	getma.org/?cm=msa&ty=f&p=AHNK2_HUMAN&rb=1401&re=1600&var=A1548T	NA	getma.org/?cm=var&var=hg19,14,105417146,C,T&fts=all	A1548T	--	--	1																																		AHNAK2_uc001ypx.2_Missense_Mutation_p.A1448T	0,1	1		possibly_damaging(0.665)	p.A1548T	NM_138420	NP_612429	T:0.002		0,1	AHNK2_HUMAN	AHNAK2	HGNC	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)				7	4762	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	UPI00015BB2CA	1548					SNV	AHNAK2,missense_variant,p.Ala1548Thr,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,;	uc010axc.1	c.4642G>A	4762/18254	2	2			c.4642G>A						14	SNP	c.(4642-4644)GCT>ACT	43	43			ovary(1)	1	Broad	AHNAK nucleoprotein 2			105417146		0.642	ENSG00000185567	411	g.chr14:105417146C>T		nucleus								-1.608081	KEEP	6	13	-1	162	134	6	13	-1	31.472076	162	134	0.081081	1	0	0	0	0	1	0	0	0	--	--		0	T			AHNAK2_uc001ypx.2_Missense_Mutation_p.A1448T	92	GBM-06-5408-TP	p.A1548T	C	TCCAGGTCAGCAGAAGGGGGC	NM_138420	NP_612429	105417146	Q8IVF2	AHNK2_HUMAN	0	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	4762	-	T	T		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	Missense_Mutation	1548						
AHNAK2	0	broad.mit.edu	GRCh37	14	105409917	105409917	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6695-01	TCGA-06-6695-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333244.5:c.11871C>T	p.Ala3957=	p.A3957=	ENST00000333244	NM_138420.2	3957	gcC/gcT	0	A:0.0003	A:0	1	A:0		A	A	uc010axc.1	protein_coding	YES	CCDS45177.1			11871/17388									ovary(1)	1	c.(11869-11871)GCC>GCT			hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37	AHNAK nucleoprotein 2		A:0	A:0.0005	ENSP00000353114	A:0.002	7-Jul	0.000504	0.000204			0.00559	0.0003	0.00223		rs375246824,COSM3401151	7-Jul	common_variant		ENST00000333244	Transcript		A:0.0004		nucleus		ENSG00000185567	g.chr14:105409917G>A	20125			LOW								--	--	1																																		AHNAK2_uc001ypx.2_Silent_p.A3857A	0,1	1			p.A3957A	NM_138420	NP_612429	A:0		0,1	AHNK2_HUMAN	AHNAK2	HGNC	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)				7	11991	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	UPI00015BB2CA	3957					SNV	AHNAK2,synonymous_variant,p.=,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	uc010axc.1	c.11871C>T	11991/18254	2	2			c.11871C>T						14	SNP	c.(11869-11871)GCC>GCT	42	42			ovary(1)	1	Broad	AHNAK nucleoprotein 2			105409917		0.622	ENSG00000185567	411	g.chr14:105409917G>A		nucleus								319.061777	KEEP	83	64	-1	109	122	83	64	-1	324.182071	109	122	0.363344	1	0	0	0	0	0	0	1	0	--	--		0	A			AHNAK2_uc001ypx.2_Silent_p.A3857A	110	GBM-06-6695-TP	p.A3957A	G	TGTCCTTGTCGGCCAGGGACA	NM_138420	NP_612429	105409917	Q8IVF2	AHNK2_HUMAN	0	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	11991	-	A	A		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	Silent	3957						
AHNAK2	0	broad.mit.edu	GRCh37	14	105408457	105408457	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01	TCGA-14-0790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333244.5:c.13331G>A	p.Arg4444Gln	p.R4444Q	ENST00000333244	NM_138420.2	4444	cGg/cAg	0			1			T	R/Q	uc010axc.1	protein_coding	YES	CCDS45177.1			13331/17388									ovary(1)	1	c.(13330-13332)CGG>CAG				AHNAK nucleoprotein 2				ENSP00000353114		7-Jul	1.65E-05			0.000232					rs781458836,COSM3401148	7-Jul	.		ENST00000333244	Transcript				nucleus		ENSG00000185567	g.chr14:105408457C>T	20125			MODERATE		0.57	neutral	getma.org/?cm=msa&ty=f&p=AHNK2_HUMAN&rb=4401&re=4600&var=R4444Q	NA	getma.org/?cm=var&var=hg19,14,105408457,C,T&fts=all	R4444Q	--	--	1																																		AHNAK2_uc001ypx.2_Missense_Mutation_p.R4344Q	0,1	1		benign(0.074)	p.R4444Q	NM_138420	NP_612429			0,1	AHNK2_HUMAN	AHNAK2	HGNC	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)				7	13451	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	UPI00015BB2CA	4444					SNV	AHNAK2,missense_variant,p.Arg4444Gln,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	uc010axc.1	c.13331G>A	13451/18254	2	2			c.13331G>A						14	SNP	c.(13330-13332)CGG>CAG	47	47			ovary(1)	1	Broad	AHNAK nucleoprotein 2			105408457		0.587	ENSG00000185567	411	g.chr14:105408457C>T		nucleus								443.079352	KEEP	83	73	-1	65	93	83	73	-1	443.086694	65	93	0.505535	1	0	0	0	0	1	0	0	0	--	--		0	T			AHNAK2_uc001ypx.2_Missense_Mutation_p.R4344Q	137	GBM-14-0790-TP	p.R4444Q	C	CCCCTCCAGCCGCGTACTGTC	NM_138420	NP_612429	105408457	Q8IVF2	AHNK2_HUMAN	0	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	13451	-	T	T		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	Missense_Mutation	4444						
AHNAK2	0	broad.mit.edu	GRCh37	14	105417016	105417016	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-14-1450-01	TCGA-14-1450-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333244.5:c.4772T>A	p.Leu1591His	p.L1591H	ENST00000333244	NM_138420.2	1591	cTc/cAc	0			1			T	L/H	uc010axc.1	protein_coding	YES	CCDS45177.1			4772/17388									ovary(1)	1	c.(4771-4773)CTC>CAC			hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37	AHNAK nucleoprotein 2				ENSP00000353114		7-Jul									COSM3401158	7-Jul	.		ENST00000333244	Transcript				nucleus		ENSG00000185567	g.chr14:105417016A>T	20125			MODERATE		2.595	medium	getma.org/?cm=msa&ty=f&p=AHNK2_HUMAN&rb=1401&re=1600&var=L1591H	NA	getma.org/?cm=var&var=hg19,14,105417016,A,T&fts=all	L1591H	--	--	1																																		AHNAK2_uc001ypx.2_Missense_Mutation_p.L1491H	1	1		probably_damaging(0.982)	p.L1591H	NM_138420	NP_612429			1	AHNK2_HUMAN	AHNAK2	HGNC	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)				7	4892	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	UPI00015BB2CA	1591					SNV	AHNAK2,missense_variant,p.Leu1591His,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,;	uc010axc.1	c.4772T>A	4892/18254	1	1			c.4772T>A						14	SNP	c.(4771-4773)CTC>CAC	10	10			ovary(1)	1	Broad	AHNAK nucleoprotein 2			105417016		0.592	ENSG00000185567	411	g.chr14:105417016A>T		nucleus								307.351856	KEEP	79	63	-1	166	171	79	63	-1	320.333911	166	171	0.310345	1	0	0	0	0	1	0	0	0	--	--		0	T			AHNAK2_uc001ypx.2_Missense_Mutation_p.L1491H	145	GBM-14-1450-TP	p.L1591H	A	GGGCCCCTTGAGGTCCACTTT	NM_138420	NP_612429	105417016	Q8IVF2	AHNK2_HUMAN	0	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	4892	-	T	T		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	Missense_Mutation	1591						
AHNAK2	0	broad.mit.edu	GRCh37	14	105409035	105409035	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-19-1790-01	TCGA-19-1790-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333244.5:c.12753T>C	p.Asp4251=	p.D4251=	ENST00000333244	NM_138420.2	4251	gaT/gaC	0			1			G	D	uc010axc.1	protein_coding	YES	CCDS45177.1			12753/17388									ovary(1)	1	c.(12751-12753)GAT>GAC			hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37	AHNAK nucleoprotein 2				ENSP00000353114		7-Jul									COSM3401149	7-Jul	.		ENST00000333244	Transcript				nucleus		ENSG00000185567	g.chr14:105409035A>G	20125			LOW								--	--	1																																		AHNAK2_uc001ypx.2_Silent_p.D4151D	1	1			p.D4251D	NM_138420	NP_612429			1	AHNK2_HUMAN	AHNAK2	HGNC	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)				7	12873	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	UPI00015BB2CA	4251					SNV	AHNAK2,synonymous_variant,p.=,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	uc010axc.1	c.12753T>C	12873/18254	3	3			c.12753T>C						14	SNP	c.(12751-12753)GAT>GAC	59	59			ovary(1)	1	Broad	AHNAK nucleoprotein 2			105409035		0.642	ENSG00000185567	411	g.chr14:105409035A>G		nucleus								-24.350823	KEEP	10	7	-1	119	147	10	7	-1	28.03226	119	147	0.055556	1	0	0	0	0	0	0	1	0	--	--		0	G			AHNAK2_uc001ypx.2_Silent_p.D4151D	160	GBM-19-1790-TP	p.D4251D	A	GGGTCATCACATCCGCCTTGG	NM_138420	NP_612429	105409035	Q8IVF2	AHNK2_HUMAN	0	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	12873	-	G	G		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	Silent	4251						
AHNAK2	0	broad.mit.edu	GRCh37	14	105410901	105410901	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-2624-01	TCGA-19-2624-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333244.5:c.10887G>T	p.Lys3629Asn	p.K3629N	ENST00000333244	NM_138420.2	3629	aaG/aaT	0			1			A	K/N	uc010axc.1	protein_coding	YES	CCDS45177.1			10887/17388									ovary(1)	1	c.(10885-10887)AAG>AAT			hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37	AHNAK nucleoprotein 2				ENSP00000353114		7-Jul									COSM3401152	7-Jul	.		ENST00000333244	Transcript				nucleus		ENSG00000185567	g.chr14:105410901C>A	20125			MODERATE		2.785	medium	getma.org/?cm=msa&ty=f&p=AHNK2_HUMAN&rb=3601&re=3800&var=K3629N	NA	getma.org/?cm=var&var=hg19,14,105410901,C,A&fts=all	K3629N	--	--	1																																		AHNAK2_uc001ypx.2_Missense_Mutation_p.K3529N	1	1		possibly_damaging(0.607)	p.K3629N	NM_138420	NP_612429			1	AHNK2_HUMAN	AHNAK2	HGNC	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)				7	11007	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	UPI00015BB2CA	3629					SNV	AHNAK2,missense_variant,p.Lys3629Asn,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	uc010axc.1	c.10887G>T	11007/18254	1	1			c.10887G>T						14	SNP	c.(10885-10887)AAG>AAT	50	50			ovary(1)	1	Broad	AHNAK nucleoprotein 2			105410901		0.597	ENSG00000185567	411	g.chr14:105410901C>A		nucleus								-12.169513	KEEP	12	9	0.428571429	172	140	12	9	0.428571429	44.305207	172	140	0.070707	1	0	0	0	0	1	0	0	0	--	--		0	A			AHNAK2_uc001ypx.2_Missense_Mutation_p.K3529N	164	GBM-19-2624-TP	p.K3629N	C	CAGTCACGTCCTTGTCAGCCA	NM_138420	NP_612429	105410901	Q8IVF2	AHNK2_HUMAN	0	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	11007	-	A	A		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	Missense_Mutation	3629						
AHNAK2	0	broad.mit.edu	GRCh37	14	105418389	105418389	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2624-01	TCGA-19-2624-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333244.5:c.3399C>T	p.Val1133=	p.V1133=	ENST00000333244	NM_138420.2	1133	gtC/gtT	0			1			A	V	uc010axc.1	protein_coding	YES	CCDS45177.1			3399/17388									ovary(1)	1	c.(3397-3399)GTC>GTT			hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37	AHNAK nucleoprotein 2				ENSP00000353114		7-Jul									COSM3401162	7-Jul	.		ENST00000333244	Transcript				nucleus		ENSG00000185567	g.chr14:105418389G>A	20125			LOW								--	--	1																																		AHNAK2_uc001ypx.2_Silent_p.V1033V	1	1			p.V1133V	NM_138420	NP_612429			1	AHNK2_HUMAN	AHNAK2	HGNC	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)				7	3519	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	UPI00015BB2CA	1133					SNV	AHNAK2,synonymous_variant,p.=,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,;	uc010axc.1	c.3399C>T	3519/18254	1	1			c.3399C>T						14	SNP	c.(3397-3399)GTC>GTT	54	54			ovary(1)	1	Broad	AHNAK nucleoprotein 2			105418389		0.632	ENSG00000185567	411	g.chr14:105418389G>A		nucleus								457.41552	KEEP	93	88	-1	113	106	93	88	-1	458.935692	113	106	0.430556	1	0	0	0	0	0	0	1	0	--	--		0	A			AHNAK2_uc001ypx.2_Silent_p.V1033V	164	GBM-19-2624-TP	p.V1133V	G	CCGGGGCCTCGACGTCCACCT	NM_138420	NP_612429	105418389	Q8IVF2	AHNK2_HUMAN	0	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	3519	-	A	A		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	Silent	1133						
AHNAK2	0	broad.mit.edu	GRCh37	14	105413876	105413876	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333244.5:c.7912G>A	p.Asp2638Asn	p.D2638N	ENST00000333244	NM_138420.2	2638	Gac/Aac	0	T:0.0096	T:0.0083	1	T:0		T	D/N	uc010axc.1	protein_coding	YES	CCDS45177.1			7912/17388									ovary(1)	1	c.(7912-7914)GAC>AAC			hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37	AHNAK nucleoprotein 2		T:0	T:0	ENSP00000353114	T:0	7-Jul	0.000885	0.0099	0.000346			1.50E-05		0.000182	rs202164616,COSM3747948	7-Jul	common_variant		ENST00000333244	Transcript		T:0.0022		nucleus		ENSG00000185567	g.chr14:105413876C>T	20125			MODERATE		2.59	medium	getma.org/?cm=msa&ty=f&p=AHNK2_HUMAN&rb=2601&re=2800&var=D2638N	NA	getma.org/?cm=var&var=hg19,14,105413876,C,T&fts=all	D2638N	--	--	1																																		AHNAK2_uc001ypx.2_Missense_Mutation_p.D2538N	0,1	1		possibly_damaging(0.8)	p.D2638N	NM_138420	NP_612429	T:0		0,1	AHNK2_HUMAN	AHNAK2	HGNC	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)				7	8032	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	UPI00015BB2CA	2638					SNV	AHNAK2,missense_variant,p.Asp2638Asn,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	uc010axc.1	c.7912G>A	8032/18254	2	2			c.7912G>A						14	SNP	c.(7912-7914)GAC>AAC	35	35			ovary(1)	1	Broad	AHNAK nucleoprotein 2			105413876		0.602	ENSG00000185567	411	g.chr14:105413876C>T		nucleus								852.12707	KEEP	149	169	-1	179	152	149	169	-1	852.145307	179	152	0.493805	1	0	0	0	0	1	0	0	0	--	--		0	T			AHNAK2_uc001ypx.2_Missense_Mutation_p.D2538N	218	GBM-28-5209-TP	p.D2638N	C	ACACCCTTGTCGGCCAGGGAC	NM_138420	NP_612429	105413876	Q8IVF2	AHNK2_HUMAN	0	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	8032	-	T	T		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	Missense_Mutation	2638						
AHNAK2	0	broad.mit.edu	GRCh37	14	105415172	105415172	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-32-4213-01	TCGA-32-4213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333244.5:c.6616C>A	p.Leu2206Ile	p.L2206I	ENST00000333244	NM_138420.2	2206	Ctt/Att	0			1			T	L/I	uc010axc.1	protein_coding	YES	CCDS45177.1			6616/17388									ovary(1)	1	c.(6616-6618)CTT>ATT			hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37	AHNAK nucleoprotein 2				ENSP00000353114		7-Jul									COSM3401157	7-Jul	.		ENST00000333244	Transcript				nucleus		ENSG00000185567	g.chr14:105415172G>T	20125			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=AHNK2_HUMAN&rb=2201&re=2400&var=L2206I	NA	getma.org/?cm=var&var=hg19,14,105415172,G,T&fts=all	L2206I	--	--	1																																		AHNAK2_uc001ypx.2_Missense_Mutation_p.L2106I	1	1		benign(0.031)	p.L2206I	NM_138420	NP_612429			1	AHNK2_HUMAN	AHNAK2	HGNC	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)				7	6736	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	UPI00015BB2CA	2206					SNV	AHNAK2,missense_variant,p.Leu2206Ile,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,;	uc010axc.1	c.6616C>A	6736/18254	2	2			c.6616C>A						14	SNP	c.(6616-6618)CTT>ATT	26	26			ovary(1)	1	Broad	AHNAK nucleoprotein 2			105415172		0.642	ENSG00000185567	411	g.chr14:105415172G>T		nucleus								243.418569	KEEP	48	56	0.461538462	82	92	48	56	0.461538462	247.075067	82	92	0.368201	1	0	0	0	0	1	0	0	0	--	--		0	T			AHNAK2_uc001ypx.2_Missense_Mutation_p.L2106I	247	GBM-32-4213-TP	p.L2206I	G	TCGGCGGAAAGGGGCTGAATG	NM_138420	NP_612429	105415172	Q8IVF2	AHNK2_HUMAN	0	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	6736	-	T	T		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	Missense_Mutation	2206						
AHNAK2	0	broad.mit.edu	GRCh37	14	105417209	105417209	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333244.5:c.4579G>A	p.Val1527Met	p.V1527M	ENST00000333244	NM_138420.2	1527	Gtg/Atg	0	T:0.0036	T:0.0083	1	T:0		T	V/M	uc010axc.1	protein_coding	YES	CCDS45177.1			4579/17388									ovary(1)	1	c.(4579-4581)GTG>ATG			hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37	AHNAK nucleoprotein 2		T:0.005	T:0	ENSP00000353114	T:0	7-Jul	0.0011	0.0072	0.00135	0.000583		0.000248	0.00113	0.0011	rs376015261,COSM3401160	7-Jul	common_variant		ENST00000333244	Transcript		T:0.0034		nucleus		ENSG00000185567	g.chr14:105417209C>T	20125			MODERATE		2.51	medium	getma.org/?cm=msa&ty=f&p=AHNK2_HUMAN&rb=1401&re=1600&var=V1527M	NA	getma.org/?cm=var&var=hg19,14,105417209,C,T&fts=all	V1527M	--	--	1																																		AHNAK2_uc001ypx.2_Missense_Mutation_p.V1427M	0,1	1		possibly_damaging(0.576)	p.V1527M	NM_138420	NP_612429	T:0.001		0,1	AHNK2_HUMAN	AHNAK2	HGNC	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)				7	4699	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	UPI00015BB2CA	1527					SNV	AHNAK2,missense_variant,p.Val1527Met,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,;	uc010axc.1	c.4579G>A	4699/18254	2	2			c.4579G>A						14	SNP	c.(4579-4581)GTG>ATG	44	44			ovary(1)	1	Broad	AHNAK nucleoprotein 2			105417209		0.622	ENSG00000185567	411	g.chr14:105417209C>T		nucleus								141.553584	KEEP	54	48	-1	82	72	54	48	-1	143.955628	82	72	0.363014	1	0	0	0	0	1	0	0	0	--	--		0	T			AHNAK2_uc001ypx.2_Missense_Mutation_p.V1427M	249	GBM-32-5222-TP	p.V1527M	C	GGGAGGCTCACGTCGGCCTCC	NM_138420	NP_612429	105417209	Q8IVF2	AHNK2_HUMAN	0	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	4699	-	T	T		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	Missense_Mutation	1527						
AHNAK2	0	broad.mit.edu	GRCh37	14	105418199	105418199	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333244.5:c.3589G>A	p.Val1197Met	p.V1197M	ENST00000333244	NM_138420.2	1197	Gtg/Atg	0			1			T	V/M	uc010axc.1	protein_coding	YES	CCDS45177.1			3589/17388									ovary(1)	1	c.(3589-3591)GTG>ATG			hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37	AHNAK nucleoprotein 2				ENSP00000353114		7-Jul	0.000314	0.000411	0.000778			0.00012	0.00112	0.00097	rs201140610,COSM2027208	7-Jul	common_variant		ENST00000333244	Transcript		G:0.0018		nucleus		ENSG00000185567	g.chr14:105418199C>T	20125			MODERATE		2.05	medium	getma.org/?cm=msa&ty=f&p=AHNK2_HUMAN&rb=1001&re=1200&var=V1197M	NA	getma.org/?cm=var&var=hg19,14,105418199,C,T&fts=all	V1197M	--	--	1																																		AHNAK2_uc001ypx.2_Missense_Mutation_p.V1097M	0,1	1		benign(0.009)	p.V1197M	NM_138420	NP_612429			0,1	AHNK2_HUMAN	AHNAK2	HGNC	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)				7	3709	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	UPI00015BB2CA	1197					SNV	AHNAK2,missense_variant,p.Val1197Met,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,;	uc010axc.1	c.3589G>A	3709/18254	2	2			c.3589G>A						14	SNP	c.(3589-3591)GTG>ATG	43	43			ovary(1)	1	Broad	AHNAK nucleoprotein 2			105418199		0.617	ENSG00000185567	411	g.chr14:105418199C>T		nucleus								144.099663	KEEP	62	56	-1	100	117	62	56	-1	156.173251	100	117	0.25974	1	0	0	0	0	1	0	0	0	--	--		0	T			AHNAK2_uc001ypx.2_Missense_Mutation_p.V1097M	249	GBM-32-5222-TP	p.V1197M	C	GGGAGACTCACGTCGGCCTCC	NM_138420	NP_612429	105418199	Q8IVF2	AHNK2_HUMAN	0	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	3709	-	T	T		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	Missense_Mutation	1197						
AHNAK2	0	broad.mit.edu	GRCh37	14	105405535	105405535	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01	TCGA-41-4097-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333244.5:c.16253C>T	p.Ala5418Val	p.A5418V	ENST00000333244	NM_138420.2	5418	gCc/gTc	0			1			A	A/V	uc010axc.1	protein_coding	YES	CCDS45177.1			16253/17388									ovary(1)	1	c.(16252-16254)GCC>GTC				AHNAK nucleoprotein 2				ENSP00000353114		7-Jul									COSM3401147,COSM3401146	7-Jul	.		ENST00000333244	Transcript				nucleus		ENSG00000185567	g.chr14:105405535G>A	20125			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=AHNK2_HUMAN&rb=5401&re=5600&var=A5418V	NA	getma.org/?cm=var&var=hg19,14,105405535,G,A&fts=all	A5418V	--	--	1																																		AHNAK2_uc001ypx.2_Missense_Mutation_p.A5318V	1,1	1		benign(0.188)	p.A5418V	NM_138420	NP_612429			1,1	AHNK2_HUMAN	AHNAK2	HGNC	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)				7	16373	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	UPI00015BB2CA	5418					SNV	AHNAK2,missense_variant,p.Ala5418Val,ENST00000333244,NM_138420.2;AHNAK2,missense_variant,p.Ala416Val,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	uc010axc.1	c.16253C>T	16373/18254	1	1			c.16253C>T						14	SNP	c.(16252-16254)GCC>GTC	62	62			ovary(1)	1	Broad	AHNAK nucleoprotein 2			105405535		0.557	ENSG00000185567	411	g.chr14:105405535G>A		nucleus								-1.611438	KEEP	0	3	-1	17	22	0	3	-1	6.34091	17	22	0.071429	1	0	0	0	0	1	0	0	0	--	--		0	A			AHNAK2_uc001ypx.2_Missense_Mutation_p.A5318V	257	GBM-41-4097-TP	p.A5418V	G	ATCAATATTGGCCTCTGGACA	NM_138420	NP_612429	105405535	Q8IVF2	AHNK2_HUMAN	0	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	16373	-	A	A		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	Missense_Mutation	5418						
AHNAK2	0	broad.mit.edu	GRCh37	14	105411658	105411658	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01	TCGA-41-5651-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333244.5:c.10130C>T	p.Pro3377Leu	p.P3377L	ENST00000333244	NM_138420.2	3377	cCg/cTg	0			1			A	P/L	uc010axc.1	protein_coding	YES	CCDS45177.1			10130/17388									ovary(1)	1	c.(10129-10131)CCG>CTG			hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37	AHNAK nucleoprotein 2				ENSP00000353114		7-Jul	4.96E-05		0.000173	0.000348		1.50E-05			rs776559136,COSM3401153	7-Jul	.		ENST00000333244	Transcript				nucleus		ENSG00000185567	g.chr14:105411658G>A	20125			MODERATE		3.495	medium	getma.org/?cm=msa&ty=f&p=AHNK2_HUMAN&rb=3201&re=3400&var=P3377L	NA	getma.org/?cm=var&var=hg19,14,105411658,G,A&fts=all	P3377L	--	--	1																																		AHNAK2_uc001ypx.2_Missense_Mutation_p.P3277L	0,1	1		benign(0.01)	p.P3377L	NM_138420	NP_612429			0,1	AHNK2_HUMAN	AHNAK2	HGNC	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)				7	10250	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	UPI00015BB2CA	3377					SNV	AHNAK2,missense_variant,p.Pro3377Leu,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	uc010axc.1	c.10130C>T	10250/18254	2	2			c.10130C>T						14	SNP	c.(10129-10131)CCG>CTG	44	44			ovary(1)	1	Broad	AHNAK nucleoprotein 2			105411658		0.637	ENSG00000185567	411	g.chr14:105411658G>A		nucleus								344.341491	KEEP	59	62	-1	57	68	59	62	-1	344.389305	57	68	0.484444	1	0	0	0	0	1	0	0	0	--	--		0	A			AHNAK2_uc001ypx.2_Missense_Mutation_p.P3277L	258	GBM-41-5651-TP	p.P3377L	G	GTGGCCCTCCGGGAGCTTCAC	NM_138420	NP_612429	105411658	Q8IVF2	AHNK2_HUMAN	0	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	10250	-	A	A		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	Missense_Mutation	3377						
AHNAK2	113146		GRCh37	14	105407228	105407228	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000333244.5:c.14560C>G	p.Pro4854Ala	p.P4854A	ENST00000333244	NM_138420.2	4854	Cct/Gct	0																																																																																																																																																																																																																																												
AHNAK2	113146		GRCh37	14	105414185	105414185	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000333244.5:c.7603C>T	p.Pro2535Ser	p.P2535S	ENST00000333244	NM_138420.2	2535	Ccc/Tcc	0																																																																																																																																																																																																																																												
AHR	196	broad.mit.edu	GRCh37	7	17367444	17367444	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0876-01	TCGA-06-0876-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000242057.4:c.422C>A	p.Thr141Asn	p.T141N	ENST00000242057	NM_001621.4	141	aCt/aAt	0			1			A	T/N	uc011jxz.1	protein_coding	YES	CCDS5366.1			422/2547									urinary_tract(1)|kidney(1)|pancreas(1)	3	c.(421-423)ACT>AAT			Superfamily_domains:SSF55785,SMART_domains:SM00091,Pfam_domain:PF00989,Gene3D:3.30.450.20,hmmpanther:PTHR10649:SF11,hmmpanther:PTHR10649,PROSITE_profiles:PS50112	aryl hydrocarbon receptor precursor				ENSP00000242057		11-Apr									COSM2152121	11-Apr	.		ENST00000242057	Transcript			apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	ENSG00000106546	g.chr7:17367444C>A	348			MODERATE		1.325	low	getma.org/?cm=msa&ty=f&p=AHR_HUMAN&rb=113&re=227&var=T141N	getma.org/pdb.php?prot=AHR_HUMAN&from=113&to=227&var=T141N	getma.org/?cm=var&var=hg19,7,17367444,C,A&fts=all	T141N	--	--	1																																		AHR_uc003stt.3_RNA	1	1		possibly_damaging(0.557)	p.T141N	NM_001621	NP_001612		deleterious(0.02)	1	AHR_HUMAN	AHR	HGNC	P35869	AHR_HUMAN					4	1035	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		UPI0000125727	141			PAS 1.		SNV	AHR,missense_variant,p.Thr141Asn,ENST00000242057,NM_001621.4;AHR,upstream_gene_variant,,ENST00000475440,;AHR,missense_variant,p.Thr141Asn,ENST00000463496,;	uc011jxz.1	c.422C>A	1065/6276	1	1			c.422C>A						7	SNP	c.(421-423)ACT>AAT	53	53			urinary_tract(1)|kidney(1)|pancreas(1)	3	Broad	aryl hydrocarbon receptor precursor			17367444		0.264	ENSG00000106546	412	g.chr7:17367444C>A	apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding							121.449077	KEEP	34	20	0.37037037	88	45	34	20	0.37037037	128.779209	88	45	0.279762	1	0	0	0	0	1	0	0	0	--	--		0	A			AHR_uc003stt.3_RNA	72	GBM-06-0876-TP	p.T141N	C	GCTTCTTCTACTATACAAGAT	NM_001621	NP_001612	17367444	P35869	AHR_HUMAN	0			4	1035	+	A	A	Lung NSC(10;0.0392)|all_lung(11;0.0754)		Missense_Mutation	141			PAS 1.			
AHR	0	broad.mit.edu	GRCh37	7	17379818	17379818	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000242057.4:c.2369C>T	p.Pro790Leu	p.P790L	ENST00000242057	NM_001621.4	790	cCa/cTa	0			1			T	P/L	uc011jxz.1	protein_coding	YES	CCDS5366.1			2369/2547									urinary_tract(1)|kidney(1)|pancreas(1)	3	c.(2368-2370)CCA>CTA			hmmpanther:PTHR10649:SF11,hmmpanther:PTHR10649	aryl hydrocarbon receptor precursor				ENSP00000242057		11-Oct									COSM3411878	11-Oct	.		ENST00000242057	Transcript			apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	ENSG00000106546	g.chr7:17379818C>T	348			MODERATE		2.36	medium	getma.org/?cm=msa&ty=f&p=AHR_HUMAN&rb=594&re=846&var=P790L	NA	getma.org/?cm=var&var=hg19,7,17379818,C,T&fts=all	P790L	--	--	1																																		AHR_uc003stt.3_RNA	1	1		benign(0.356)	p.P790L	NM_001621	NP_001612		deleterious_low_confidence(0)	1	AHR_HUMAN	AHR	HGNC	P35869	AHR_HUMAN					10	2982	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		UPI0000125727	790					SNV	AHR,missense_variant,p.Pro790Leu,ENST00000242057,NM_001621.4;AHR,downstream_gene_variant,,ENST00000492120,;AHR,downstream_gene_variant,,ENST00000481944,;AHR,missense_variant,p.Pro790Leu,ENST00000463496,;	uc011jxz.1	c.2369C>T	3012/6276	1	1			c.2369C>T						7	SNP	c.(2368-2370)CCA>CTA	16	16			urinary_tract(1)|kidney(1)|pancreas(1)	3	Broad	aryl hydrocarbon receptor precursor			17379818		0.443	ENSG00000106546	412	g.chr7:17379818C>T	apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding							-17.592391	KEEP	2	2	-1	57	60	2	2	-1	7.204226	57	60	0.037383	1	0	0	0	0	1	0	0	0	--	--		0	T			AHR_uc003stt.3_RNA	177	GBM-19-5959-TP	p.P790L	C	CAGTACAATCCAGTACTGCCA	NM_001621	NP_001612	17379818	P35869	AHR_HUMAN	0			10	2982	+	T	T	Lung NSC(10;0.0392)|all_lung(11;0.0754)		Missense_Mutation	790						
AHR	0	broad.mit.edu	GRCh37	7	17375305	17375305	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01	TCGA-41-2572-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000242057.4:c.1055G>A	p.Arg352Gln	p.R352Q	ENST00000242057	NM_001621.4	352	cGg/cAg	0			1			A	R/Q	uc011jxz.1	protein_coding	YES	CCDS5366.1			1055/2547									urinary_tract(1)|kidney(1)|pancreas(1)	3	c.(1054-1056)CGG>CAG			Superfamily_domains:SSF55785,SMART_domains:SM00086,Pfam_domain:PF08447,Gene3D:3.30.450.20,hmmpanther:PTHR10649:SF11,hmmpanther:PTHR10649	aryl hydrocarbon receptor precursor				ENSP00000242057		11-Sep	8.25E-06					4.92E-05			rs777712668,COSM3306710	11-Sep	.		ENST00000242057	Transcript			apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	ENSG00000106546	g.chr7:17375305G>A	348			MODERATE		3.835	high	getma.org/?cm=msa&ty=f&p=AHR_HUMAN&rb=297&re=383&var=R352Q	getma.org/pdb.php?prot=AHR_HUMAN&from=297&to=383&var=R352Q	getma.org/?cm=var&var=hg19,7,17375305,G,A&fts=all	R352Q	--	--	1																																		AHR_uc003stt.3_RNA	0,1	1		probably_damaging(1)	p.R352Q	NM_001621	NP_001612		deleterious(0)	0,1	AHR_HUMAN	AHR	HGNC	P35869	AHR_HUMAN					9	1668	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		UPI0000125727	352			PAC.		SNV	AHR,missense_variant,p.Arg352Gln,ENST00000242057,NM_001621.4;AHR,non_coding_transcript_exon_variant,,ENST00000492120,;AHR,non_coding_transcript_exon_variant,,ENST00000481944,;AHR,downstream_gene_variant,,ENST00000475440,;AHR,missense_variant,p.Arg352Gln,ENST00000463496,;	uc011jxz.1	c.1055G>A	1698/6276	2	2			c.1055G>A						7	SNP	c.(1054-1056)CGG>CAG	47	47			urinary_tract(1)|kidney(1)|pancreas(1)	3	Broad	aryl hydrocarbon receptor precursor			17375305		0.333	ENSG00000106546	412	g.chr7:17375305G>A	apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding							32.787179	KEEP	7	5	-1	9	20	7	5	-1	34.362955	9	20	0.292683	1	0	0	0	0	1	0	0	0	--	--		0	A			AHR_uc003stt.3_RNA	251	GBM-41-2572-TP	p.R352Q	G	ATAGTTTTCCGGCTTCTTACA	NM_001621	NP_001612	17375305	P35869	AHR_HUMAN	0			9	1668	+	A	A	Lung NSC(10;0.0392)|all_lung(11;0.0754)		Missense_Mutation	352			PAC.			
AHRR	0	broad.mit.edu	GRCh37	5	422882	422882	+	synonymous_variant	Silent	SNP	C	C	T	rs2671894	byFrequency;by1000genomes	TCGA-14-0781-01	TCGA-14-0781-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000505113.1:c.492C>T	p.His164=	p.H164=	ENST00000505113	NM_001242412.1	164	caC/caT	0	T:0.0093	T:0.0038	1	T:0		T	H	uc003jav.2	protein_coding		CCDS56355.1			492/2106									breast(2)	2	c.(490-492)CAC>CAT			PROSITE_profiles:PS50112,hmmpanther:PTHR10649,hmmpanther:PTHR10649:SF3,Gene3D:3.30.450.20,Pfam_domain:PF00989,SMART_domains:SM00091,Superfamily_domains:SSF55785	arylhydrocarbon receptor repressor		T:0	T:0	ENSP00000424601	T:0	11-Jun	0.000885	0.0104	0.000346	0.000116					rs2671894,COSM3410287	11-Jun	common_variant		ENST00000505113	Transcript		T:0.0010	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	ENSG00000063438	g.chr5:422882C>T	346			LOW								--	--	1																																		AHRR_uc003jaw.2_Silent_p.H160H|AHRR_uc010isy.2_Silent_p.H10H|AHRR_uc010isz.2_Silent_p.H160H|AHRR_uc003jax.2_Translation_Start_Site|AHRR_uc003jay.2_Silent_p.H20H	0,1				p.H164H	NM_020731	NP_065782	T:0		0,1	AHRR_HUMAN	AHRR	HGNC	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		E5RGQ2_HUMAN,E5RFG4_HUMAN,D6RF73_HUMAN		6	536	+			UPI0001D3B0D7	164			PAS.		SNV	AHRR,synonymous_variant,p.=,ENST00000316418,NM_020731.4;AHRR,synonymous_variant,p.=,ENST00000506456,;AHRR,synonymous_variant,p.=,ENST00000505113,NM_001242412.1;AHRR,synonymous_variant,p.=,ENST00000512529,;AHRR,synonymous_variant,p.=,ENST00000514523,;AHRR,downstream_gene_variant,,ENST00000510400,;AHRR,non_coding_transcript_exon_variant,,ENST00000510910,;CTD-2228K2.1,downstream_gene_variant,,ENST00000509301,;	uc003jav.2	c.492C>T	536/2173	2	2			c.492C>T						5	SNP	c.(490-492)CAC>CAT	46	46			breast(2)	2	Broad	arylhydrocarbon receptor repressor			422882		0.547	ENSG00000063438	413	g.chr5:422882C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity							-7.491671	KEEP	3	3	-1	38	50	3	3	-1	10.381346	38	50	0.057471	1	0	0	0	0	0	0	1	0	--	--		0	T			AHRR_uc003jaw.2_Silent_p.H160H|AHRR_uc010isy.2_Silent_p.H10H|AHRR_uc010isz.2_Silent_p.H160H|AHRR_uc003jax.2_Translation_Start_Site|AHRR_uc003jay.2_Silent_p.H20H	133	GBM-14-0781-TP	p.H164H	C	ACTACATCCACGTGGACGACC	NM_020731	NP_065782	422882	A9YTQ3	AHRR_HUMAN	0	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		6	536	+	T	T			Silent	164			PAS.			
AHRR	0	broad.mit.edu	GRCh37	5	422883	422883	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01	TCGA-14-0790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000505113.1:c.493G>A	p.Val165Met	p.V165M	ENST00000505113	NM_001242412.1	165	Gtg/Atg	0	A:0	A:0	1	A:0		A	V/M	uc003jav.2	protein_coding		CCDS56355.1			493/2106									breast(2)	2	c.(493-495)GTG>ATG			PROSITE_profiles:PS50112,hmmpanther:PTHR10649,hmmpanther:PTHR10649:SF3,Gene3D:3.30.450.20,Pfam_domain:PF00989,SMART_domains:SM00091,Superfamily_domains:SSF55785	arylhydrocarbon receptor repressor		A:0	A:0.0001	ENSP00000424601	A:0.001	11-Jun	4.96E-05					9.00E-05			rs180979445,COSM3410288	11-Jun	.		ENST00000505113	Transcript		A:0.0002	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	ENSG00000063438	g.chr5:422883G>A	346			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=AHRR_HUMAN&rb=114&re=187&var=V165M	getma.org/pdb.php?prot=AHRR_HUMAN&from=114&to=187&var=V165M	getma.org/?cm=var&var=hg19,5,422883,G,A&fts=all	V165M	--	--	1																																		AHRR_uc003jaw.2_Missense_Mutation_p.V161M|AHRR_uc010isy.2_Missense_Mutation_p.V11M|AHRR_uc010isz.2_Missense_Mutation_p.V161M|AHRR_uc003jax.2_Translation_Start_Site|AHRR_uc003jay.2_Missense_Mutation_p.V21M	0,1			possibly_damaging(0.885)	p.V165M	NM_020731	NP_065782	A:0	deleterious(0)	0,1	AHRR_HUMAN	AHRR	HGNC	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		E5RGQ2_HUMAN,E5RFG4_HUMAN,D6RF73_HUMAN		6	537	+			UPI0001D3B0D7	165			PAS.		SNV	AHRR,missense_variant,p.Val165Met,ENST00000316418,NM_020731.4;AHRR,missense_variant,p.Val21Met,ENST00000506456,;AHRR,missense_variant,p.Val165Met,ENST00000505113,NM_001242412.1;AHRR,missense_variant,p.Val11Met,ENST00000512529,;AHRR,missense_variant,p.Val11Met,ENST00000514523,;AHRR,downstream_gene_variant,,ENST00000510400,;AHRR,non_coding_transcript_exon_variant,,ENST00000510910,;CTD-2228K2.1,downstream_gene_variant,,ENST00000509301,;	uc003jav.2	c.493G>A	537/2173	2	2			c.493G>A						5	SNP	c.(493-495)GTG>ATG	25	25			breast(2)	2	Broad	arylhydrocarbon receptor repressor			422883		0.547	ENSG00000063438	413	g.chr5:422883G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity							124.275583	KEEP	35	13	-1	17	20	35	13	-1	124.516685	17	20	0.561644	1	0	0	0	0	1	0	0	0	--	--		0	A			AHRR_uc003jaw.2_Missense_Mutation_p.V161M|AHRR_uc010isy.2_Missense_Mutation_p.V11M|AHRR_uc010isz.2_Missense_Mutation_p.V161M|AHRR_uc003jax.2_Translation_Start_Site|AHRR_uc003jay.2_Missense_Mutation_p.V21M	137	GBM-14-0790-TP	p.V165M	G	CTACATCCACGTGGACGACCG	NM_020731	NP_065782	422883	A9YTQ3	AHRR_HUMAN	0	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		6	537	+	A	A			Missense_Mutation	165			PAS.			
AHRR	57491		GRCh37	5	428029	428029	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000316418.5:c.882C>T	p.Pro294=	p.P294=	ENST00000316418	NM_020731.4	294	ccC/ccT	0																																																																																																																																																																																																																																												
AHSA1	10598	broad.mit.edu	GRCh37	14	77930997	77930997	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5412-01	TCGA-06-5412-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216479.3:c.529G>A	p.Gly177Arg	p.G177R	ENST00000216479	NM_012111.2	177	Ggg/Agg	0			1			A	G/R	uc001xtw.2	protein_coding	YES	CCDS9863.1			529/1017										0	c.(529-531)GGG>AGG			hmmpanther:PTHR13009:SF7,hmmpanther:PTHR13009	activator of heat shock 90kDa protein ATPase				ENSP00000216479		9-May									COSM3401481	9-May	.		ENST00000216479	Transcript			protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding	ENSG00000100591	g.chr14:77930997G>A	1189			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=AHSA1_HUMAN&rb=162&re=215&var=G177R	NA	getma.org/?cm=var&var=hg19,14,77930997,G,A&fts=all	G177R	--	--	1																																		AHSA1_uc010tvk.1_Missense_Mutation_p.G177R	1	1		benign(0.001)	p.G177R	NM_012111	NP_036243		tolerated(0.46)	1	AHSA1_HUMAN	AHSA1	HGNC	O95433	AHSA1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	G3V438_HUMAN		5	689	+			UPI0000127BE0	177					SNV	AHSA1,missense_variant,p.Gly177Arg,ENST00000216479,NM_012111.2;AHSA1,missense_variant,p.Gly177Arg,ENST00000535854,;AHSA1,missense_variant,p.Gly42Arg,ENST00000555133,;AHSA1,missense_variant,p.Gly123Arg,ENST00000553374,;AHSA1,intron_variant,,ENST00000555729,;AHSA1,downstream_gene_variant,,ENST00000555517,;AHSA1,upstream_gene_variant,,ENST00000557476,;SNORA46,upstream_gene_variant,,ENST00000391069,;AHSA1,intron_variant,,ENST00000555457,;AHSA1,non_coding_transcript_exon_variant,,ENST00000555473,;AHSA1,non_coding_transcript_exon_variant,,ENST00000556866,;AHSA1,upstream_gene_variant,,ENST00000556369,;AHSA1,downstream_gene_variant,,ENST00000556963,;AHSA1,downstream_gene_variant,,ENST00000554156,;	uc001xtw.2	c.529G>A	689/1402	2	2			c.529G>A						14	SNP	c.(529-531)GGG>AGG	43	43				0	Broad	activator of heat shock 90kDa protein ATPase			77930997		0.473	ENSG00000100591	414	g.chr14:77930997G>A	protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding							4.836997	KEEP	2	3	-1	25	30	2	3	-1	12.574646	25	30	0.102041	1	0	0	0	0	1	0	0	0	--	--		0	A			AHSA1_uc010tvk.1_Missense_Mutation_p.G177R	95	GBM-06-5412-TP	p.G177R	G	AGACCCAGTGGGGCAGCCAGC	NM_012111	NP_036243	77930997	O95433	AHSA1_HUMAN	0	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	5	689	+	A	A			Missense_Mutation	177						
AICDA	57379		GRCh37	12	8757515	8757515	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000229335.6:c.431A>T	p.Tyr144Phe	p.Y144F	ENST00000229335	NM_020661.2	144	tAt/tTt	0																																																																																																																																																																																																																																												
AICDA	57379		GRCh37	12	8759510	8759510	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000229335.6:c.107G>A	p.Arg36His	p.R36H	ENST00000229335	NM_020661.2	36	cGt/cAt	0																																																																																																																																																																																																																																												
AIDA	64853	broad.mit.edu	GRCh37	1	222860999	222860999	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0152-01	TCGA-06-0152-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340020.6:c.291C>G	p.Ile97Met	p.I97M	ENST00000340020	NM_022831.2	97	atC/atG	0			1			C	I/M	uc001hnn.2	protein_coding	YES	CCDS1533.1			291/921										0	c.(289-291)ATC>ATG			Gene3D:1ug7A00,Pfam_domain:PF08910,Superfamily_domains:0044344	axin interactor, dorsalization associated				ENSP00000339161		10-May									COSM2149848	10-May	.		ENST00000340020	Transcript			dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity			ENSG00000186063	g.chr1:222860999G>C	25761			MODERATE		1.265	low	getma.org/?cm=msa&ty=f&p=AIDA_HUMAN&rb=8&re=113&var=I97M	getma.org/pdb.php?prot=AIDA_HUMAN&from=8&to=113&var=I97M	getma.org/?cm=var&var=hg19,1,222860999,G,C&fts=all	I97M	--	--	1																																		AIDA_uc001hno.2_RNA|AIDA_uc010pus.1_Missense_Mutation_p.I73M	1	1		benign(0.047)	p.I97M	NM_022831	NP_073742		tolerated(0.09)	1	AIDA_HUMAN	AIDA	HGNC	Q96BJ3	AIDA_HUMAN					5	496	-			UPI0000073A6E	97					SNV	AIDA,missense_variant,p.Ile97Met,ENST00000340020,NM_022831.2;AIDA,missense_variant,p.Ile97Met,ENST00000355727,;AIDA,missense_variant,p.Ile73Met,ENST00000541237,;AIDA,splice_region_variant,,ENST00000474863,;AIDA,splice_region_variant,,ENST00000470437,;AIDA,splice_region_variant,,ENST00000497112,;	uc001hnn.2	c.291C>G	498/3008	4	4			c.291C>G						1	SNP	c.(289-291)ATC>ATG	47	47				0	Broad	axin interactor, dorsalization associated			222860999		0.194	ENSG00000186063	419	g.chr1:222860999G>C	dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity									939.835104	KEEP	143	132	-1	43	32	143	132	-1	963.346371	43	32	0.79322	1	0	0	0	0	1	0	0	0	--	--		0	C			AIDA_uc001hno.2_RNA|AIDA_uc010pus.1_Missense_Mutation_p.I73M	25	GBM-06-0152-TP	p.I97M	G	TATTCTTTAGGACTAGAATAA	NM_022831	NP_073742	222860999	Q96BJ3	AIDA_HUMAN	0			5	496	-	C	C			Missense_Mutation	97						
AIF1	0	broad.mit.edu	GRCh37	6	31584614	31584614	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-41-4097-01	TCGA-41-4097-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376059.3:c.381A>G	p.Lys127=	p.K127=	ENST00000376059	NM_001623.3	127	aaA/aaG	0			1			G	K	uc003nuy.2	protein_coding	YES	CCDS4706.1			381/444									ovary(1)	1	c.(379-381)AAA>AAG			hmmpanther:PTHR10356,hmmpanther:PTHR10356:SF2	allograft inflammatory factor 1 isoform 3				ENSP00000365227		6-Jun									COSM3410938,COSM3410939	6-Jun	.		ENST00000376059	Transcript			actin filament bundle assembly|cell cycle arrest|inflammatory response|negative regulation of cell proliferation	nucleus|ruffle membrane	actin filament binding|calcium ion binding	ENSG00000204472	g.chr6:31584614A>G	352			LOW								--	--	1																																		AIF1_uc010jsy.2_3'UTR|AIF1_uc003nva.2_Silent_p.K73K	1,1	1			p.K127K	NM_001623	NP_001614			1,1	AIF1_HUMAN	AIF1	HGNC	P55008	AIF1_HUMAN			Q4V347_HUMAN,I3WTX1_HUMAN		6	455	+			UPI0000125734	127					SNV	AIF1,synonymous_variant,p.=,ENST00000376059,NM_001623.3;AIF1,synonymous_variant,p.=,ENST00000337917,NM_004847.3;AIF1,synonymous_variant,p.=,ENST00000376049,NM_032955.1;PRRC2A,upstream_gene_variant,,ENST00000376033,NM_004638.3;PRRC2A,upstream_gene_variant,,ENST00000376007,NM_080686.2;PRRC2A,upstream_gene_variant,,ENST00000469577,;AIF1,non_coding_transcript_exon_variant,,ENST00000466820,;AIF1,downstream_gene_variant,,ENST00000497362,;	uc003nuy.2	c.381A>G	527/711	4	4			c.381A>G						6	SNP	c.(379-381)AAA>AAG	29	29			ovary(1)	1	Broad	allograft inflammatory factor 1 isoform 3			31584614		0.493	ENSG00000204472	420	g.chr6:31584614A>G	actin filament bundle assembly|cell cycle arrest|inflammatory response|negative regulation of cell proliferation	nucleus|ruffle membrane	actin filament binding|calcium ion binding	Ovarian(23;358 734 36938 38933 52312)			Ovarian(23;358 734 36938 38933 52312)			-3.019985	KEEP	0	3	-1	27	27	0	3	-1	6.584865	27	27	0.0625	1	0	0	0	0	0	0	1	0	--	--		0	G			AIF1_uc010jsy.2_3'UTR|AIF1_uc003nva.2_Silent_p.K73K	257	GBM-41-4097-TP	p.K127K	A	ATGAGGAAAAAGCGAGAGAAA	NM_001623	NP_001614	31584614	P55008	AIF1_HUMAN	0			6	455	+	G	G			Silent	127						
AIFM1	0	broad.mit.edu	GRCh37	X	129272643	129272643	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000287295.3:c.892C>T	p.Arg298Trp	p.R298W	ENST00000287295	NM_004208.3	298	Cgg/Tgg	0			1			A	R/W	uc004evg.2	protein_coding	YES	CCDS14618.1			892/1842									ovary(4)|central_nervous_system(1)	5	c.(892-894)CGG>TGG			Pfam_domain:PF07992,hmmpanther:PTHR22912,hmmpanther:PTHR22912:SF33,Superfamily_domains:SSF51905	programmed cell death 8 isoform 1				ENSP00000287295		16-Sep									COSM3405964,COSM3405963	16-Sep	.		ENST00000287295	Transcript	1		activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	ENSG00000156709	g.chrX:129272643G>A	8768			MODERATE		2.56	medium	getma.org/?cm=msa&ty=f&p=AIFM1_HUMAN&rb=134&re=444&var=R298W	getma.org/pdb.php?prot=AIFM1_HUMAN&from=134&to=444&var=R298W	getma.org/?cm=var&var=hg19,X,129272643,G,A&fts=all	R298W	--	--	1																																		AIFM1_uc011mur.1_5'Flank|AIFM1_uc011mus.1_Missense_Mutation_p.R298W|AIFM1_uc004evh.2_Missense_Mutation_p.R294W|AIFM1_uc004evi.2_Intron|AIFM1_uc004evk.2_RNA	1,1	1		possibly_damaging(0.842)	p.R298W	NM_004208	NP_004199		deleterious(0)	1,1	AIFM1_HUMAN	AIFM1	HGNC	O95831	AIFM1_HUMAN			E9PMA0_HUMAN		9	1070	-			UPI00001313DB	298			FAD-dependent oxidoreductase (By similarity).		SNV	AIFM1,missense_variant,p.Arg298Trp,ENST00000287295,NM_004208.3,NM_001130847.3;AIFM1,missense_variant,p.Arg294Trp,ENST00000319908,NM_145812.2;AIFM1,missense_variant,p.Arg211Trp,ENST00000535724,;AIFM1,intron_variant,,ENST00000346424,NM_145813.2;AIFM1,upstream_gene_variant,,ENST00000440263,NM_001130846.2;AIFM1,upstream_gene_variant,,ENST00000460436,;AIFM1,missense_variant,p.Arg298Trp,ENST00000416073,;AIFM1,3_prime_UTR_variant,,ENST00000527892,;AIFM1,non_coding_transcript_exon_variant,,ENST00000533719,;	uc004evg.2	c.892C>T	1123/2260	2	2			c.892C>T						23	SNP	c.(892-894)CGG>TGG	42	42			ovary(4)|central_nervous_system(1)	5	Broad	programmed cell death 8 isoform 1			129272643		0.433	ENSG00000156709	422	g.chrX:129272643G>A	activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			210			210	89.892391	KEEP	14	22	-1	30	36	14	22	-1	91.538975	30	36	0.355556	1	0	0	0	0	1	0	0	0	--	--		0	A			AIFM1_uc011mur.1_5'Flank|AIFM1_uc011mus.1_Missense_Mutation_p.R298W|AIFM1_uc004evh.2_Missense_Mutation_p.R294W|AIFM1_uc004evi.2_Intron|AIFM1_uc004evk.2_RNA	177	GBM-19-5959-TP	p.R298W	G	TTGACTTCCCGTGAAATCTTC	NM_004208	NP_004199	129272643	O95831	AIFM1_HUMAN	0			9	1070	-	A	A			Missense_Mutation	298			FAD-dependent oxidoreductase (By similarity).			
AIFM3	150209		GRCh37	22	21332217	21332217	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000399167.2:c.1400A>T	p.Asp467Val	p.D467V	ENST00000399167	NM_144704.2	467	gAt/gTt	0																																																																																																																																																																																																																																												
AIM1	0	broad.mit.edu	GRCh37	6	106967934	106967934	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0173-01	TCGA-06-0173-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369066.3:c.1627T>C	p.Ser543Pro	p.S543P	ENST00000369066	NM_001624.2	543	Tcc/Ccc	0			1			C	S/P	uc003prh.2	protein_coding	YES	CCDS34506.1			1627/5172									breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9	c.(1627-1629)TCC>CCC			hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF2	absent in melanoma 1				ENSP00000358062		20-Feb									COSM2150420	20-Feb	.		ENST00000369066	Transcript					sugar binding	ENSG00000112297	g.chr6:106967934T>C	356			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=AIM1_HUMAN&rb=1&re=686&var=S543P	NA	getma.org/?cm=var&var=hg19,6,106967934,T,C&fts=all	S543P	--	--	1																																			1	1		possibly_damaging(0.851)	p.S543P	NM_001624	NP_001615		deleterious_low_confidence(0.01)	1	AIM1_HUMAN	AIM1	HGNC	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	B3KPT0_HUMAN		2	2114	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	UPI000013C91D	543					SNV	AIM1,missense_variant,p.Ser543Pro,ENST00000369066,NM_001624.2;	uc003prh.2	c.1627T>C	2114/7544	3	3			c.1627T>C						6	SNP	c.(1627-1629)TCC>CCC	4	4			breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9	Broad	absent in melanoma 1			106967934		0.527	ENSG00000112297	426	g.chr6:106967934T>C			sugar binding			659			659	137.592598	KEEP	23	24	-1	30	24	23	24	-1	137.833896	30	24	0.444444	1	0	0	0	0	1	0	0	0	--	--		0	C				36	GBM-06-0173-TP	p.S543P	T	TGAGTGTCCATCCAGAGTCCT	NM_001624	NP_001615	106967934	Q9Y4K1	AIM1_HUMAN	0	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	2	2114	+	C	C	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Missense_Mutation	543						
AIM1	0	broad.mit.edu	GRCh37	6	106978130	106978130	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0744-01	TCGA-06-0744-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369066.3:c.3434A>C	p.Glu1145Ala	p.E1145A	ENST00000369066	NM_001624.2	1145	gAa/gCa	0			1			C	E/A	uc003prh.2	protein_coding	YES	CCDS34506.1			3434/5172									breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9	c.(3433-3435)GAA>GCA			Gene3D:2.60.20.10,Pfam_domain:PF00030,PROSITE_profiles:PS50915,hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF2,SMART_domains:SM00247,Superfamily_domains:SSF49695	absent in melanoma 1				ENSP00000358062		20-Jun									COSM3410519	20-Jun	.		ENST00000369066	Transcript					sugar binding	ENSG00000112297	g.chr6:106978130A>C	356			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=AIM1_HUMAN&rb=1124&re=1205&var=E1145A	getma.org/pdb.php?prot=AIM1_HUMAN&from=1124&to=1205&var=E1145A	getma.org/?cm=var&var=hg19,6,106978130,A,C&fts=all	E1145A	--	--	1																																			1	1		probably_damaging(1)	p.E1145A	NM_001624	NP_001615		tolerated(0.1)	1	AIM1_HUMAN	AIM1	HGNC	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	B3KPT0_HUMAN		6	3921	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	UPI000013C91D	1145			Beta/gamma crystallin 'Greek key' 3.		SNV	AIM1,missense_variant,p.Glu1145Ala,ENST00000369066,NM_001624.2;	uc003prh.2	c.3434A>C	3921/7544	3	3			c.3434A>C						6	SNP	c.(3433-3435)GAA>GCA	13	13			breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9	Broad	absent in melanoma 1			106978130		0.328	ENSG00000112297	426	g.chr6:106978130A>C			sugar binding			659			659	-33.01719	KEEP	2	1	-1	111	59	2	1	-1	6.912489	111	59	0.019481	1	0	0	0	0	1	0	0	0	--	--		0	C				66	GBM-06-0744-TP	p.E1145A	A	GATGATACTGAAGAAATGCAG	NM_001624	NP_001615	106978130	Q9Y4K1	AIM1_HUMAN	0	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	6	3921	+	C	C	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Missense_Mutation	1145			Beta/gamma crystallin 'Greek key' 3.			
AIM1L	0	broad.mit.edu	GRCh37	1	26658052	26658052	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-2519-01	TCGA-27-2519-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308182.5:c.1107C>T	p.Gly369=	p.G369=	ENST00000308182		369	ggC/ggT	0			1			A	G	uc001bmd.3	protein_coding					1107/1851									pancreas(1)	1	c.(1105-1107)GGC>GGT			PROSITE_profiles:PS50915,hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF50,Gene3D:2.60.20.10,Pfam_domain:PF00030,SMART_domains:SM00247,Superfamily_domains:SSF49695	absent in melanoma 1-like				ENSP00000310435		14/19	8.24E-06					1.50E-05			rs763397390,COSM907628,COSM907629	14/19	.		ENST00000308182	Transcript					sugar binding	ENSG00000176092	g.chr1:26658052G>A	17295			LOW								--	--	1																																			0,1,1				p.G369G	NM_001039775	NP_001034864			0,1,1	AIM1L_HUMAN	AIM1L	HGNC	Q8N1P7	AIM1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)			14	1537	-		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	UPI000006F870	369			Beta/gamma crystallin 'Greek key' 8.		SNV	AIM1L,synonymous_variant,p.=,ENST00000527815,NM_001039775.3;AIM1L,synonymous_variant,p.=,ENST00000308182,;AIM1L,downstream_gene_variant,,ENST00000429942,;AIM1L,downstream_gene_variant,,ENST00000522993,;AIM1L,downstream_gene_variant,,ENST00000522923,;AIM1L,non_coding_transcript_exon_variant,,ENST00000520372,;RP11-569G9.7,downstream_gene_variant,,ENST00000434718,;	uc001bmd.3	c.1107C>T	1537/2390	1	1			c.1107C>T						1	SNP	c.(1105-1107)GGC>GGT	49	49			pancreas(1)	1	Broad	absent in melanoma 1-like			26658052		0.567	ENSG00000176092	427	g.chr1:26658052G>A			sugar binding							107.564986	KEEP	14	28	-1	29	48	14	28	-1	109.579702	29	48	0.357143	1	0	0	0	0	0	0	1	0	--	--		0	A				199	GBM-27-2519-TP	p.G369G	G	TGGGGAACTCGCCCTCAGAGA	NM_001039775	NP_001034864	26658052	Q8N1P7	AIM1L_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)	14	1537	-	A	A		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	Silent	369			Beta/gamma crystallin 'Greek key' 8.			
AIPL1	23746	broad.mit.edu	GRCh37	17	6338338	6338338	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0876-01	TCGA-06-0876-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381129.3:c.87C>T	p.Thr29=	p.T29=	ENST00000381129	NM_014336.3	29	acC/acT	0			1			A	T	uc002gcp.2	protein_coding	YES	CCDS11075.1			87/1155										0	c.(85-87)ACC>ACT			Superfamily_domains:SSF54534,Pfam_domain:PF00254,Gene3D:3.10.50.40,hmmpanther:PTHR11242,hmmpanther:PTHR11242:SF2	aryl hydrocarbon receptor interacting				ENSP00000370521		6-Jan									COSM2152122	6-Jan	.		ENST00000381129	Transcript	1		protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding	ENSG00000129221	g.chr17:6338338G>A	359			LOW								--	--	1																																		AIPL1_uc002gcq.2_Silent_p.T29T|AIPL1_uc002gcr.2_Silent_p.T29T|AIPL1_uc010clk.2_Silent_p.T29T|AIPL1_uc010cll.2_Silent_p.T29T|AIPL1_uc002gcs.2_Silent_p.T29T	1	1			p.T29T	NM_014336	NP_055151			1	AIPL1_HUMAN	AIPL1	HGNC	Q9NZN9	AIPL1_HUMAN		COAD - Colon adenocarcinoma(228;0.141)	F1T0C0_HUMAN,F1T0B6_HUMAN		1	182	-			UPI0000125741	29					SNV	AIPL1,synonymous_variant,p.=,ENST00000381129,NM_014336.3,NM_001033055.1;AIPL1,synonymous_variant,p.=,ENST00000250087,NM_001033054.1;AIPL1,synonymous_variant,p.=,ENST00000575265,;AIPL1,synonymous_variant,p.=,ENST00000574506,NM_001285399.2;AIPL1,synonymous_variant,p.=,ENST00000571740,NM_001285403.2;AIPL1,synonymous_variant,p.=,ENST00000570466,NM_001285400.2;AIPL1,synonymous_variant,p.=,ENST00000576776,NM_001285401.2;AIPL1,synonymous_variant,p.=,ENST00000576307,;AIPL1,synonymous_variant,p.=,ENST00000574913,;AIPL1,synonymous_variant,p.=,ENST00000570584,;AIPL1,synonymous_variant,p.=,ENST00000381128,NM_001285402.1;	uc002gcp.2	c.87C>T	168/2959	2	2			c.87C>T						17	SNP	c.(85-87)ACC>ACT	22	22				0	Broad	aryl hydrocarbon receptor interacting			6338338		0.597	ENSG00000129221	432	g.chr17:6338338G>A	protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding							71.887572	KEEP	21	8	-1	38	18	21	8	-1	73.355292	38	18	0.347222	1	0	0	0	0	0	0	1	0	--	--		0	A			AIPL1_uc002gcq.2_Silent_p.T29T|AIPL1_uc002gcr.2_Silent_p.T29T|AIPL1_uc010clk.2_Silent_p.T29T|AIPL1_uc010cll.2_Silent_p.T29T|AIPL1_uc002gcs.2_Silent_p.T29T	72	GBM-06-0876-TP	p.T29T	G	CTCGGGATCCGGTGATGAAGT	NM_014336	NP_055151	6338338	Q9NZN9	AIPL1_HUMAN	0		COAD - Colon adenocarcinoma(228;0.141)	1	182	-	A	A			Silent	29						
AIRE	0	broad.mit.edu	GRCh37	21	45706905	45706905	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-5299-01	TCGA-12-5299-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000291582.5:c.352G>A	p.Val118Ile	p.V118I	ENST00000291582	NM_000383.3	118	Gtc/Atc	0	A:0.0002		1			A	V/I	uc002zei.2	protein_coding	YES	CCDS13706.1			352/1638									skin(1)	1	c.(352-354)GTC>ATC			Low_complexity_(Seg):seg,hmmpanther:PTHR24102,hmmpanther:PTHR24102:SF15	autoimmune regulator isoform 1			A:0	ENSP00000291582		14-Mar	8.25E-06					1.60E-05			rs370599883,COSM3405441	14-Mar	.	Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy	ENST00000291582	Transcript	1		positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding	ENSG00000160224	g.chr21:45706905G>A	360			MODERATE		-0.895	neutral	getma.org/?cm=msa&ty=f&p=AIRE_HUMAN&rb=107&re=188&var=V118I	NA	getma.org/?cm=var&var=hg19,21,45706905,G,A&fts=all	V118I	--	--	1																																			0,1	1		benign(0.001)	p.V118I	NM_000383	NP_000374		tolerated(0.11)	0,1	AIRE_HUMAN	AIRE	HGNC	O43918	AIRE_HUMAN		Colorectal(79;0.0806)			3	479	+			UPI0000030FA6	118					SNV	AIRE,missense_variant,p.Val118Ile,ENST00000291582,NM_000383.3;AIRE,upstream_gene_variant,,ENST00000355347,;AIRE,upstream_gene_variant,,ENST00000329347,;AIRE,non_coding_transcript_exon_variant,,ENST00000530812,;AIRE,non_coding_transcript_exon_variant,,ENST00000527919,;AIRE,upstream_gene_variant,,ENST00000337909,;AIRE,upstream_gene_variant,,ENST00000397994,;	uc002zei.2	c.352G>A	479/2257	2	2			c.352G>A						21	SNP	c.(352-354)GTC>ATC	28	28			skin(1)	1	Broad	autoimmune regulator isoform 1			45706905	Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy	0.672	ENSG00000160224	433	g.chr21:45706905G>A	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding							207.07082	KEEP	36	41	-1	29	28	36	41	-1	207.621573	29	28	0.573913	1	0	0	0	0	1	0	0	0	--	--		0	A				130	GBM-12-5299-TP	p.V118I	G	GCCCCCGGCCGTCCCCAAGGC	NM_000383	NP_000374	45706905	O43918	AIRE_HUMAN	0		Colorectal(79;0.0806)	3	479	+	A	A			Missense_Mutation	118						
AJUBA	0	broad.mit.edu	GRCh37	14	23444297	23444297	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-2575-01	TCGA-41-2575-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262713.2:c.1256G>A	p.Gly419Glu	p.G419E	ENST00000262713	NM_032876.4	419	gGg/gAg	0			1			T	G/E	uc001whz.2	protein_coding	YES	CCDS9581.1			1256/1617										0	c.(1255-1257)GGG>GAG			Gene3D:2.10.110.10,Pfam_domain:PF00412,PROSITE_profiles:PS50023,hmmpanther:PTHR24219,hmmpanther:PTHR24219:SF7,SMART_domains:SM00132,Superfamily_domains:SSF57716	ajuba isoform 1				ENSP00000262713		8-May									COSM3401236	8-May	.		ENST00000262713	Transcript			cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	ENSG00000129474	g.chr14:23444297C>T	20250			MODERATE		2.495	medium	getma.org/?cm=msa&ty=f&p=AJUBA_HUMAN&rb=401&re=461&var=G419E	getma.org/pdb.php?prot=AJUBA_HUMAN&from=401&to=461&var=G419E	getma.org/?cm=var&var=hg19,14,23444297,C,T&fts=all	G419E	--	--	1																																		JUB_uc001why.2_Missense_Mutation_p.G2E	1	1		possibly_damaging(0.633)	p.G419E	NM_032876	NP_116265		deleterious(0)	1	AJUBA_HUMAN	AJUBA	HGNC	Q96IF1	JUB_HUMAN		GBM - Glioblastoma multiforme(265;0.0122)	G3V5F5_HUMAN,G3V481_HUMAN		5	1632	-	all_cancers(95;4.6e-05)		UPI0000040AEC	419			LIM zinc-binding 2.		SNV	AJUBA,missense_variant,p.Gly419Glu,ENST00000262713,NM_032876.4;AJUBA,missense_variant,p.Gly2Glu,ENST00000397388,NM_198086.1;AJUBA,missense_variant,p.Gly419Glu,ENST00000361265,;AJUBA,missense_variant,p.Gly2Glu,ENST00000556731,;AJUBA,missense_variant,p.Gly2Glu,ENST00000553911,;AJUBA,missense_variant,p.Gly2Glu,ENST00000553592,;RP11-298I3.5,intron_variant,,ENST00000555074,;AJUBA,downstream_gene_variant,,ENST00000553736,;AJUBA,non_coding_transcript_exon_variant,,ENST00000555479,;	uc001whz.2	c.1256G>A	1632/4262	2	2			c.1256G>A						14	SNP	c.(1255-1257)GGG>GAG	32	32				0	Broad	ajuba isoform 1			23444297		0.502	ENSG00000129474	7832	g.chr14:23444297C>T	cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	Esophageal Squamous(134;328 1721 9795 37986 41605)			Esophageal Squamous(134;328 1721 9795 37986 41605)			106.972635	KEEP	19	13	-1	4	4	19	13	-1	110.316874	4	4	0.810811	1	0	0	0	0	1	0	0	0	--	--		0	T			JUB_uc001why.2_Missense_Mutation_p.G2E	253	GBM-41-2575-TP	p.G419E	C	ATAGGACTTCCCCATTGCTTG	NM_032876	NP_116265	23444297	Q96IF1	JUB_HUMAN	0		GBM - Glioblastoma multiforme(265;0.0122)	5	1632	-	T	T	all_cancers(95;4.6e-05)		Missense_Mutation	419			LIM zinc-binding 2.			
AK1	0	broad.mit.edu	GRCh37	9	130630690	130630691	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-26-1442-01	TCGA-26-1442-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373156.1:c.425dupA	p.Asn142LysfsTer2	p.N142Kfs*2	ENST00000373156		142	aat/aaAt	0			1			T	N/KX	uc004bsm.3	protein_coding		CCDS6881.1			425-426/585										0	c.(424-426)AATfs			Prints_domain:PR00094,Superfamily_domains:SSF52540,Gene3D:3.40.50.300,Pfam_domain:PF00406,TIGRFAM_domain:TIGR01360,hmmpanther:PTHR23359:SF59,hmmpanther:PTHR23359,HAMAP:MF_03171,HAMAP:MF_00235	adenylate kinase 1				ENSP00000362249		7-Jun										7-Jun	.		ENST00000373156	Transcript	1		ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion	cytosol	adenylate kinase activity|ATP binding|protein binding	ENSG00000106992	g.chr9:130630690_130630691insT	361			HIGH								--	--	1																																							p.N142fs	NM_000476	NP_000467				KAD1_HUMAN	AK1	HGNC	P00568	KAD1_HUMAN			Q6FGX9_HUMAN		6	578_579	-			UPI000012DB89	142					insertion	AK1,frameshift_variant,p.Asn142LysfsTer2,ENST00000373176,NM_000476.2;AK1,frameshift_variant,p.Asn142LysfsTer2,ENST00000373156,;AK1,frameshift_variant,p.Asn158LysfsTer2,ENST00000223836,;AK1,frameshift_variant,p.Asn83LysfsTer2,ENST00000413016,;MIR4672,downstream_gene_variant,,ENST00000583126,;RP11-203J24.9,non_coding_transcript_exon_variant,,ENST00000476274,;RP11-203J24.9,downstream_gene_variant,,ENST00000548587,;AK1,3_prime_UTR_variant,,ENST00000550143,;AK1,downstream_gene_variant,,ENST00000550992,;	uc004bsm.3	c.425_426insA	588-589/757	5	5			c.425_426insA						9	INS	c.(424-426)AATfs	62	62				0	Broad	adenylate kinase 1			130630691		0.574	ENSG00000106992	435	g.chr9:130630690_130630691insT	ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion	cytosol	adenylate kinase activity|ATP binding|protein binding																				0.36	1	0	0	1	1	0	0	0	0	--	--		0	T				180	GBM-26-1442-TP	p.N142fs	-	TGGTCTCCTCATTGTCGTCCAC	NM_000476	NP_000467	130630690	P00568	KAD1_HUMAN	0			6	578_579	-	T	T			Frame_Shift_Ins	142						
AK5	0	broad.mit.edu	GRCh37	1	78001682	78001682	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0821-01	TCGA-12-0821-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354567.2:c.1579C>T	p.Pro527Ser	p.P527S	ENST00000354567	NM_174858.2	527	Ccc/Tcc	0			1			T	P/S	uc001dhn.2	protein_coding	YES	CCDS675.1			1579/1689									skin(1)	1	c.(1579-1581)CCC>TCC			Prints_domain:PR00094,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR01360,Pfam_domain:PF00406,Gene3D:3.40.50.300,hmmpanther:PTHR23359,hmmpanther:PTHR23359:SF79,HAMAP:MF_00235	adenylate kinase 5 isoform 1				ENSP00000346577		13/14									COSM3401015	13/14	.		ENST00000354567	Transcript			ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	ENSG00000154027	g.chr1:78001682C>T	365			MODERATE		2.535	medium	getma.org/?cm=msa&ty=f&p=KAD5_HUMAN&rb=381&re=537&var=P527S	getma.org/pdb.php?prot=KAD5_HUMAN&from=381&to=537&var=P527S	getma.org/?cm=var&var=hg19,1,78001682,C,T&fts=all	P527S	--	--	1																																		AK5_uc001dho.2_Missense_Mutation_p.P501S	1	1		probably_damaging(0.928)	p.P527S	NM_174858	NP_777283		tolerated(0.13)	1	KAD5_HUMAN	AK5	HGNC	Q9Y6K8	KAD5_HUMAN			E9PQQ8_HUMAN,E9PIS7_HUMAN		13	1836	+			UPI0000167E20	527					SNV	AK5,missense_variant,p.Pro501Ser,ENST00000344720,NM_012093.3;AK5,missense_variant,p.Pro527Ser,ENST00000354567,NM_174858.2;AK5,missense_variant,p.Pro42Ser,ENST00000478255,;AK5,downstream_gene_variant,,ENST00000530826,;AK5,upstream_gene_variant,,ENST00000466393,;AK5,3_prime_UTR_variant,,ENST00000527263,;	uc001dhn.2	c.1579C>T	1842/3248	2	2			c.1579C>T						1	SNP	c.(1579-1581)CCC>TCC	47	47			skin(1)	1	Broad	adenylate kinase 5 isoform 1			78001682		0.527	ENSG00000154027	439	g.chr1:78001682C>T	ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity							99.256373	KEEP	27	15	-1	38	27	27	15	-1	100.100739	38	27	0.392857	1	0	0	0	0	1	0	0	0	--	--		0	T			AK5_uc001dho.2_Missense_Mutation_p.P501S	123	GBM-12-0821-TP	p.P527S	C	AGCGTCCATCCCCGTGATCGC	NM_174858	NP_777283	78001682	Q9Y6K8	KAD5_HUMAN	0			13	1836	+	T	T			Missense_Mutation	527						
AK7	122481	broad.mit.edu	GRCh37	14	96917806	96917806	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0749-01	TCGA-06-0749-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267584.4:c.997T>C	p.Phe333Leu	p.F333L	ENST00000267584	NM_152327.3	333	Ttt/Ctt	0			1			C	F/L	uc001yfn.2	protein_coding	YES	CCDS9945.1			997/2172									ovary(1)	1	c.(997-999)TTT>CTT			hmmpanther:PTHR23359,hmmpanther:PTHR23359:SF71,Superfamily_domains:SSF51735	adenylate kinase 7				ENSP00000267584		18-Oct									COSM2151877	18-Oct	.		ENST00000267584	Transcript			cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	ENSG00000140057	g.chr14:96917806T>C	20091			MODERATE		1.395	low	getma.org/?cm=msa&ty=f&p=KAD7_HUMAN&rb=201&re=368&var=F333L	NA	getma.org/?cm=var&var=hg19,14,96917806,T,C&fts=all	F333L	--	--	1																																			1	1		benign(0.011)	p.F333L	NM_152327	NP_689540		tolerated(0.07)	1	KAD7_HUMAN	AK7	HGNC	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)			10	1041	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	UPI00001FDB1D	333			Potential.		SNV	AK7,missense_variant,p.Phe333Leu,ENST00000267584,NM_152327.3;	uc001yfn.2	c.997T>C	1041/3300	3	3			c.997T>C						14	SNP	c.(997-999)TTT>CTT	2	2			ovary(1)	1	Broad	adenylate kinase 7			96917806		0.368	ENSG00000140057	440	g.chr14:96917806T>C	cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity							86.884853	KEEP	16	15	-1	45	24	16	15	-1	90.251061	45	24	0.296703	1	0	0	0	0	1	0	0	0	--	--		0	C				69	GBM-06-0749-TP	p.F333L	T	GGAAGCGCTCTTTGTGAAGGA	NM_152327	NP_689540	96917806	Q96M32	KAD7_HUMAN	0		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	10	1041	+	C	C		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	Missense_Mutation	333			Potential.			
AK7	122481	broad.mit.edu	GRCh37	14	96949427	96949427	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0875-01	TCGA-06-0875-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267584.4:c.1845C>T	p.Asp615=	p.D615=	ENST00000267584	NM_152327.3	615	gaC/gaT	0	A:0	A:0.0008	1	A:0		T	D	uc001yfn.2	protein_coding	YES	CCDS9945.1			1845/2172									ovary(1)	1	c.(1843-1845)GAC>GAT			hmmpanther:PTHR23359,hmmpanther:PTHR23359:SF71	adenylate kinase 7		A:0	A:0.0002	ENSP00000267584	A:0	16/18	5.77E-05					9.00E-05		6.06E-05	rs199616462,COSM3401569	16/18	.		ENST00000267584	Transcript		A:0.0002	cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	ENSG00000140057	g.chr14:96949427C>T	20091			LOW								--	--	1																																			0,1	1			p.D615D	NM_152327	NP_689540	A:0		0,1	KAD7_HUMAN	AK7	HGNC	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)			16	1889	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	UPI00001FDB1D	615			Potential.		SNV	AK7,synonymous_variant,p.=,ENST00000267584,NM_152327.3;AK7,synonymous_variant,p.=,ENST00000554706,;	uc001yfn.2	c.1845C>T	1889/3300	2	2			c.1845C>T						14	SNP	c.(1843-1845)GAC>GAT	30	30			ovary(1)	1	Broad	adenylate kinase 7			96949427		0.507	ENSG00000140057	440	g.chr14:96949427C>T	cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity							24.712506	KEEP	7	5	-1	29	26	7	5	-1	30.130256	29	26	0.186441	1	0	0	0	0	0	0	1	0	--	--		0	T				71	GBM-06-0875-TP	p.D615D	C	GTTTAACAGACGAAGAAAAGG	NM_152327	NP_689540	96949427	Q96M32	KAD7_HUMAN	0		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	16	1889	+	T	T		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	Silent	615			Potential.			
AK7	0	broad.mit.edu	GRCh37	14	96864516	96864516	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs17853407		TCGA-19-5951-01	TCGA-19-5951-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267584.4:c.210A>T	p.Lys70Asn	p.K70N	ENST00000267584	NM_152327.3	70	aaA/aaT	0			1			T	K/N	uc001yfn.2	protein_coding	YES	CCDS9945.1			210/2172									ovary(1)	1	c.(208-210)AAA>AAT			hmmpanther:PTHR23359,hmmpanther:PTHR23359:SF71	adenylate kinase 7				ENSP00000267584		18-Feb									COSM2156617	18-Feb	.		ENST00000267584	Transcript			cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	ENSG00000140057	g.chr14:96864516A>T	20091			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=KAD7_HUMAN&rb=1&re=200&var=K70N	NA	getma.org/?cm=var&var=hg19,14,96864516,A,T&fts=all	K70N	--	--	1																																		AK7_uc001yfm.1_Missense_Mutation_p.K70N	1	1		benign(0.013)	p.K70N	NM_152327	NP_689540		tolerated(0.08)	1	KAD7_HUMAN	AK7	HGNC	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)			2	254	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	UPI00001FDB1D	70			Potential.		SNV	AK7,missense_variant,p.Lys70Asn,ENST00000267584,NM_152327.3;AK7,missense_variant,p.Lys70Asn,ENST00000555570,;AK7,upstream_gene_variant,,ENST00000554313,;AK7,non_coding_transcript_exon_variant,,ENST00000556643,;	uc001yfn.2	c.210A>T	254/3300	1	1			c.210A>T						14	SNP	c.(208-210)AAA>AAT	6	6			ovary(1)	1	Broad	adenylate kinase 7			96864516		0.507	ENSG00000140057	440	g.chr14:96864516A>T	cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity							175.354715	KEEP	30	32	-1	35	50	30	32	-1	176.005365	35	50	0.425373	1	0	0	0	0	1	0	0	0	--	--		0	T			AK7_uc001yfm.1_Missense_Mutation_p.K70N	171	GBM-19-5951-TP	p.K70N	A	CCTCAACCAAAGTGAAGGAAG	NM_152327	NP_689540	96864516	Q96M32	KAD7_HUMAN	0		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	2	254	+	T	T		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	Missense_Mutation	70			Potential.			
AK7	122481		GRCh37	14	96875256	96875256	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000267584.4:c.476C>T	p.Ala159Val	p.A159V	ENST00000267584	NM_152327.3	159	gCg/gTg	0																																																																																																																																																																																																																																												
AK8	158067	broad.mit.edu	GRCh37	9	135702270	135702270	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0168-01	TCGA-06-0168-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298545.3:c.728A>C	p.Asp243Ala	p.D243A	ENST00000298545	NM_152572.2	243	gAc/gCc	0			1			G	D/A	uc004cbu.1	protein_coding	YES	CCDS6954.1			728/1440										0	c.(727-729)GAC>GCC			Gene3D:3.40.50.300,hmmpanther:PTHR23359,hmmpanther:PTHR23359:SF64,Superfamily_domains:SSF52540	putative adenylate kinase-like protein C9orf98				ENSP00000298545		13-Aug									COSM487172,COSM487173	13-Aug	.		ENST00000298545	Transcript				cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	ENSG00000165695	g.chr9:135702270T>G	26526			MODERATE		2.085	medium	getma.org/?cm=msa&ty=f&p=KAD8_HUMAN&rb=239&re=272&var=D243A	NA	getma.org/?cm=var&var=hg19,9,135702270,T,G&fts=all	D243A	--	--	1																																		C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_Missense_Mutation_p.D39A	1,1	1		probably_damaging(1)	p.D243A	NM_152572	NP_689785		deleterious(0)	1,1	KAD8_HUMAN	AK8	HGNC	Q96MA6	KAD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016)			8	1284	-			UPI0000071236	243					SNV	AK8,missense_variant,p.Asp243Ala,ENST00000298545,NM_152572.2;AK8,non_coding_transcript_exon_variant,,ENST00000477396,;AK8,non_coding_transcript_exon_variant,,ENST00000476719,;	uc004cbu.1	c.728A>C	1250/2072	3	3			c.728A>C						9	SNP	c.(727-729)GAC>GCC	2	2				0	Broad	putative adenylate kinase-like protein C9orf98			135702270		0.557	ENSG00000165695	2460	g.chr9:135702270T>G		cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity							-19.023327	KEEP	31	34	-1	79	82	31	34	-1	6.548041	79	82	0.101351	1	0	0	0	0	1	0	0	0	--	--		0	G			C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_Missense_Mutation_p.D39A	33	GBM-06-0168-TP	p.D243A	T	ACATGGCTGGTCAGCACTGAT	NM_152572	NP_689785	135702270	Q96MA6	KAD8_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016)	8	1284	-	G	G			Missense_Mutation	243						
AK8	0	broad.mit.edu	GRCh37	9	135702390	135702390	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298545.3:c.608G>A	p.Arg203His	p.R203H	ENST00000298545	NM_152572.2	203	cGt/cAt	0	T:0.0002		1			T	R/H	uc004cbu.1	protein_coding	YES	CCDS6954.1			608/1440										0	c.(607-609)CGT>CAT			Gene3D:3.40.50.300,Pfam_domain:PF00406,hmmpanther:PTHR23359,hmmpanther:PTHR23359:SF64,Superfamily_domains:SSF57774	putative adenylate kinase-like protein C9orf98			T:0	ENSP00000298545		13-Aug	1.65E-05	9.61E-05				1.50E-05			rs375829164,COSM219592,COSM219593	13-Aug	.		ENST00000298545	Transcript				cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	ENSG00000165695	g.chr9:135702390C>T	26526			MODERATE		3.315	medium	getma.org/?cm=msa&ty=f&p=KAD8_HUMAN&rb=62&re=238&var=R203H	getma.org/pdb.php?prot=KAD8_HUMAN&from=62&to=238&var=R203H	getma.org/?cm=var&var=hg19,9,135702390,C,T&fts=all	R203H	--	--	1																																		C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_5'UTR	0,1,1	1		probably_damaging(1)	p.R203H	NM_152572	NP_689785		deleterious(0)	0,1,1	KAD8_HUMAN	AK8	HGNC	Q96MA6	KAD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016)			8	1164	-			UPI0000071236	203					SNV	AK8,missense_variant,p.Arg203His,ENST00000298545,NM_152572.2;AK8,non_coding_transcript_exon_variant,,ENST00000477396,;AK8,non_coding_transcript_exon_variant,,ENST00000476719,;	uc004cbu.1	c.608G>A	1130/2072	2	2			c.608G>A						9	SNP	c.(607-609)CGT>CAT	35	35				0	Broad	putative adenylate kinase-like protein C9orf98			135702390		0.517	ENSG00000165695	2460	g.chr9:135702390C>T		cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity							280.349563	KEEP	45	57	-1	80	87	45	57	-1	282.368434	80	87	0.401674	1	0	0	0	0	1	0	0	0	--	--		0	T			C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_5'UTR	177	GBM-19-5959-TP	p.R203H	C	CACCATGAGACGGTTCTGGAT	NM_152572	NP_689785	135702390	Q96MA6	KAD8_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016)	8	1164	-	T	T			Missense_Mutation	203						
AK8	0	broad.mit.edu	GRCh37	9	135702270	135702270	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-28-1747-01	TCGA-28-1747-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298545.3:c.728A>C	p.Asp243Ala	p.D243A	ENST00000298545	NM_152572.2	243	gAc/gCc	0			1			G	D/A	uc004cbu.1	protein_coding	YES	CCDS6954.1			728/1440										0	c.(727-729)GAC>GCC			Gene3D:3.40.50.300,hmmpanther:PTHR23359,hmmpanther:PTHR23359:SF64,Superfamily_domains:SSF52540	putative adenylate kinase-like protein C9orf98				ENSP00000298545		13-Aug									COSM487172,COSM487173	13-Aug	.		ENST00000298545	Transcript				cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	ENSG00000165695	g.chr9:135702270T>G	26526			MODERATE		2.085	medium	getma.org/?cm=msa&ty=f&p=KAD8_HUMAN&rb=239&re=272&var=D243A	NA	getma.org/?cm=var&var=hg19,9,135702270,T,G&fts=all	D243A	--	--	1																																		C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_Missense_Mutation_p.D39A	1,1	1		probably_damaging(1)	p.D243A	NM_152572	NP_689785		deleterious(0)	1,1	KAD8_HUMAN	AK8	HGNC	Q96MA6	KAD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016)			8	1284	-			UPI0000071236	243					SNV	AK8,missense_variant,p.Asp243Ala,ENST00000298545,NM_152572.2;AK8,non_coding_transcript_exon_variant,,ENST00000477396,;AK8,non_coding_transcript_exon_variant,,ENST00000476719,;	uc004cbu.1	c.728A>C	1250/2072	3	3			c.728A>C						9	SNP	c.(727-729)GAC>GCC	2	2				0	Broad	putative adenylate kinase-like protein C9orf98			135702270		0.557	ENSG00000165695	2460	g.chr9:135702270T>G		cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity							-21.085009	KEEP	22	25	-1	83	92	22	25	-1	7.537155	83	92	0.10303	1	0	0	0	0	1	0	0	0	--	--		0	G			C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_Missense_Mutation_p.D39A	206	GBM-28-1747-TP	p.D243A	T	ACATGGCTGGTCAGCACTGAT	NM_152572	NP_689785	135702270	Q96MA6	KAD8_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016)	8	1284	-	G	G			Missense_Mutation	243						
AK9	0	broad.mit.edu	GRCh37	6	109993127	109993127	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-14-0813-01	TCGA-14-0813-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000424296.2:c.326delA	p.His109ProfsTer17	p.H109Pfs*17	ENST00000424296	NM_001145128.2	109	cAc/cc	0			1			-	H/X	uc003ptn.2	protein_coding	YES	CCDS55048.1			326/5736									ovary(1)	1	c.(325-327)CACfs			hmmpanther:PTHR23359,hmmpanther:PTHR23359:SF61,Pfam_domain:PF00406,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	adenylate kinase domain containing 1 isoform 1				ENSP00000410186		May-41									COSM2154725,COSM2154724	May-41	.		ENST00000424296	Transcript			nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity	ENSG00000155085	g.chr6:109993127delT	33814			HIGH								--	--	1																																		AKD1_uc003ptr.3_Frame_Shift_Del_p.H109fs|AKD1_uc003pts.1_RNA	1,1	1			p.H109fs	NM_001145128	NP_001138600			1,1	KAD9_HUMAN	AK9	HGNC	Q5TCS8	AKD1_HUMAN			E9PPU7_HUMAN,E9PPM3_HUMAN		5	403	-			UPI0001A48FC8	109					deletion	AK9,frameshift_variant,p.His109ProfsTer17,ENST00000424296,NM_001145128.2;AK9,frameshift_variant,p.His109ProfsTer17,ENST00000285397,NM_145025.4;AK9,frameshift_variant,p.His109ProfsTer17,ENST00000368948,;AK9,frameshift_variant,p.His109ProfsTer17,ENST00000532976,;AK9,frameshift_variant,p.His32ProfsTer17,ENST00000448084,;AK9,5_prime_UTR_variant,,ENST00000341338,;	uc003ptn.2	c.326delA	403/6326	5	5			c.326delA						6	DEL	c.(325-327)CACfs	24	24			ovary(1)	1	Broad	adenylate kinase domain containing 1 isoform 1			109993127		0.383	ENSG00000155085	456	g.chr6:109993127delT	nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity																				0.39	1	1	0	1	0	0	0	0	0	--	--		0	-			AKD1_uc003ptr.3_Frame_Shift_Del_p.H109fs|AKD1_uc003pts.1_RNA	138	GBM-14-0813-TP	p.H109fs	T	CATACCAAAGTGACAGACTTC	NM_001145128	NP_001138600	109993127	Q5TCS8	AKD1_HUMAN	0			5	403	-	-	-			Frame_Shift_Del	109						
AK9	0	broad.mit.edu	GRCh37	6	109827537	109827537	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-87-5896-01	TCGA-87-5896-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000424296.2:c.4842A>G	p.Ile1614Met	p.I1614M	ENST00000424296	NM_001145128.2	1614	atA/atG	0			1			C	I/M	uc003ptn.2	protein_coding	YES	CCDS55048.1			4842/5736									ovary(1)	1	c.(4840-4842)ATA>ATG			hmmpanther:PTHR23359,hmmpanther:PTHR23359:SF61,Gene3D:3.40.50.300	adenylate kinase domain containing 1 isoform 1				ENSP00000410186		35/41									COSM3410530,COSM3410531	35/41	.		ENST00000424296	Transcript			nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity	ENSG00000155085	g.chr6:109827537T>C	33814			MODERATE		2.135	medium	getma.org/?cm=msa&ty=f&p=AKD1_HUMAN&rb=1612&re=1811&var=I1614M	NA	getma.org/?cm=var&var=hg19,6,109827537,T,C&fts=all	I1614M	--	--	1																																		AKD1_uc011eas.1_Missense_Mutation_p.I13M	1,1	1		possibly_damaging(0.793)	p.I1614M	NM_001145128	NP_001138600		deleterious(0.03)	1,1	KAD9_HUMAN	AK9	HGNC	Q5TCS8	AKD1_HUMAN			E9PPU7_HUMAN,E9PPM3_HUMAN		35	4919	-			UPI0001A48FC8	1614					SNV	AK9,missense_variant,p.Ile1614Met,ENST00000424296,NM_001145128.2;AK9,missense_variant,p.Ile452Met,ENST00000470564,;AK9,missense_variant,p.Ile29Met,ENST00000490722,;AL109947.2,downstream_gene_variant,,ENST00000517228,;RP5-919F19.5,intron_variant,,ENST00000423747,;	uc003ptn.2	c.4842A>G	4919/6326	3	3			c.4842A>G						6	SNP	c.(4840-4842)ATA>ATG	13	13			ovary(1)	1	Broad	adenylate kinase domain containing 1 isoform 1			109827537		0.323	ENSG00000155085	456	g.chr6:109827537T>C	nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity							162.623404	KEEP	23	28	-1	37	54	23	28	-1	164.848505	37	54	0.359375	1	0	0	0	0	1	0	0	0	--	--		0	C			AKD1_uc011eas.1_Missense_Mutation_p.I13M	291	GBM-87-5896-TP	p.I1614M	T	TACCTGCTTTTATTCTTTCCA	NM_001145128	NP_001138600	109827537	Q5TCS8	AKD1_HUMAN	0			35	4919	-	C	C			Missense_Mutation	1614						
AKAP13	11214	broad.mit.edu	GRCh37	15	86076975	86076975	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0171-01	TCGA-06-0171-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361243.2:c.342C>A	p.Asn114Lys	p.N114K	ENST00000361243	NM_006738.5	114	aaC/aaA	0			1			A	N/K	uc002blv.1	protein_coding		CCDS32319.1			342/8442									central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9	c.(340-342)AAC>AAA			hmmpanther:PTHR13944,hmmpanther:PTHR13944:SF4	A-kinase anchor protein 13 isoform 2				ENSP00000378026		Apr-37									COSM3401982,COSM3401983,COSM3401984	Apr-37	.		ENST00000394518	Transcript			apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	ENSG00000170776	g.chr15:86076975C>A	371			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=AKP13_HUMAN&rb=1&re=269&var=N114K	NA	getma.org/?cm=var&var=hg19,15,86076975,C,A&fts=all	N114K	--	--	1																																		AKAP13_uc002bls.2_Missense_Mutation_p.N114K|AKAP13_uc002blt.1_Missense_Mutation_p.N114K|AKAP13_uc002blu.1_Missense_Mutation_p.N114K	1,1,1			probably_damaging(0.986)	p.N114K	NM_007200	NP_009131		deleterious(0)	1,1,1	AKP13_HUMAN	AKAP13	HGNC	Q12802	AKP13_HUMAN			H0YMI5_HUMAN,A8MYJ1_HUMAN		4	512	+			UPI0000167BA0	114					SNV	AKAP13,missense_variant,p.Asn114Lys,ENST00000394518,NM_007200.4,NM_001270546.1;AKAP13,missense_variant,p.Asn114Lys,ENST00000361243,NM_006738.5;AKAP13,missense_variant,p.Asn114Lys,ENST00000559362,;AKAP13,missense_variant,p.Asn114Lys,ENST00000560302,;	uc002blv.1	c.342C>A	437/13215	2	2			c.342C>A						15	SNP	c.(340-342)AAC>AAA	48	48			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9	Broad	A-kinase anchor protein 13 isoform 2			86076975		0.498	ENSG00000170776	445	g.chr15:86076975C>A	apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	Melanoma(94;603 1453 3280 32295 32951)			Melanoma(94;603 1453 3280 32295 32951)			78.986721	KEEP	19	23	0.547619048	98	72	19	23	0.547619048	94.470842	98	72	0.197802	1	0	0	0	0	1	0	0	0	--	--		0	A			AKAP13_uc002bls.2_Missense_Mutation_p.N114K|AKAP13_uc002blt.1_Missense_Mutation_p.N114K|AKAP13_uc002blu.1_Missense_Mutation_p.N114K	35	GBM-06-0171-TP	p.N114K	C	AGGCTTTGAACTTTACCCGTT	NM_007200	NP_009131	86076975	Q12802	AKP13_HUMAN	0			4	512	+	A	A			Missense_Mutation	114						
AKAP13	11214	broad.mit.edu	GRCh37	15	86123972	86123972	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0241-01	TCGA-06-0241-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361243.2:c.2673C>T	p.Asp891=	p.D891=	ENST00000361243	NM_006738.5	891	gaC/gaT	0			1			T	D	uc002blv.1	protein_coding		CCDS32319.1			2673/8442									central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9	c.(2671-2673)GAC>GAT			hmmpanther:PTHR13944,hmmpanther:PTHR13944:SF4	A-kinase anchor protein 13 isoform 2				ENSP00000378026		Jul-37									COSM2151117,COSM2151118	Jul-37	.		ENST00000394518	Transcript			apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	ENSG00000170776	g.chr15:86123972C>T	371			LOW								--	--	1																																		AKAP13_uc002blt.1_Silent_p.D891D|AKAP13_uc002blu.1_Silent_p.D891D|AKAP13_uc010bne.1_5'Flank	1,1				p.D891D	NM_007200	NP_009131			1,1	AKP13_HUMAN	AKAP13	HGNC	Q12802	AKP13_HUMAN			H0YMI5_HUMAN,A8MYJ1_HUMAN		7	2843	+			UPI0000167BA0	891					SNV	AKAP13,synonymous_variant,p.=,ENST00000394518,NM_007200.4,NM_001270546.1;AKAP13,synonymous_variant,p.=,ENST00000361243,NM_006738.5;AKAP13,synonymous_variant,p.=,ENST00000559362,;AKAP13,downstream_gene_variant,,ENST00000558166,;AKAP13,downstream_gene_variant,,ENST00000558811,;RP11-815J21.2,upstream_gene_variant,,ENST00000561409,;AKAP13,upstream_gene_variant,,ENST00000561337,;AKAP13,upstream_gene_variant,,ENST00000560340,;	uc002blv.1	c.2673C>T	2768/13215	2	2			c.2673C>T						15	SNP	c.(2671-2673)GAC>GAT	21	21			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9	Broad	A-kinase anchor protein 13 isoform 2			86123972		0.512	ENSG00000170776	445	g.chr15:86123972C>T	apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	Melanoma(94;603 1453 3280 32295 32951)			Melanoma(94;603 1453 3280 32295 32951)			225.555672	KEEP	38	44	-1	47	56	38	44	-1	225.723997	47	56	0.464968	1	0	0	0	0	0	0	1	0	--	--		0	T			AKAP13_uc002blt.1_Silent_p.D891D|AKAP13_uc002blu.1_Silent_p.D891D|AKAP13_uc010bne.1_5'Flank	57	GBM-06-0241-TP	p.D891D	C	GGAACACTGACTCTTCCCTGC	NM_007200	NP_009131	86123972	Q12802	AKP13_HUMAN	0			7	2843	+	T	T			Silent	891						
AKAP13	11214	broad.mit.edu	GRCh37	15	86270682	86270682	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0875-01	TCGA-06-0875-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361243.2:c.7087C>G	p.Arg2363Gly	p.R2363G	ENST00000361243	NM_006738.5	2363	Cga/Gga	0			1			G	R/G	uc002blv.1	protein_coding		CCDS32319.1			7075/8442									central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9	c.(7075-7077)CGA>GGA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13944,hmmpanther:PTHR13944:SF4	A-kinase anchor protein 13 isoform 2				ENSP00000378026		29/37									COSM2152029,COSM2152030	29/37	.		ENST00000394518	Transcript			apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	ENSG00000170776	g.chr15:86270682C>G	371			MODERATE		2.625	medium	getma.org/?cm=msa&ty=f&p=AKP13_HUMAN&rb=2341&re=2559&var=R2359G	NA	getma.org/?cm=var&var=hg19,15,86270682,C,G&fts=all	R2359G	--	--	1																																		AKAP13_uc002blu.1_Missense_Mutation_p.R2363G|AKAP13_uc010bnf.1_Missense_Mutation_p.R980G|AKAP13_uc002blw.1_Missense_Mutation_p.R824G|AKAP13_uc002blx.1_Missense_Mutation_p.R604G	1,1			probably_damaging(0.949)	p.R2359G	NM_007200	NP_009131		deleterious(0)	1,1	AKP13_HUMAN	AKAP13	HGNC	Q12802	AKP13_HUMAN			H0YMI5_HUMAN,A8MYJ1_HUMAN		29	7245	+			UPI0000167BA0	2359			Interaction with ESR1.|Potential.		SNV	AKAP13,missense_variant,p.Arg2359Gly,ENST00000394518,NM_007200.4,NM_001270546.1;AKAP13,missense_variant,p.Arg2363Gly,ENST00000361243,NM_006738.5;AKAP13,missense_variant,p.Arg604Gly,ENST00000394510,;RP11-158M2.2,upstream_gene_variant,,ENST00000561417,;AKAP13,non_coding_transcript_exon_variant,,ENST00000560579,;AKAP13,downstream_gene_variant,,ENST00000560676,;AKAP13,downstream_gene_variant,,ENST00000558644,;	uc002blv.1	c.7075C>G	7170/13215	4	4			c.7075C>G						15	SNP	c.(7075-7077)CGA>GGA	28	28			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9	Broad	A-kinase anchor protein 13 isoform 2			86270682		0.448	ENSG00000170776	445	g.chr15:86270682C>G	apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	Melanoma(94;603 1453 3280 32295 32951)			Melanoma(94;603 1453 3280 32295 32951)			52.192503	KEEP	5	11	-1	17	17	5	11	-1	53.369086	17	17	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	G			AKAP13_uc002blu.1_Missense_Mutation_p.R2363G|AKAP13_uc010bnf.1_Missense_Mutation_p.R980G|AKAP13_uc002blw.1_Missense_Mutation_p.R824G|AKAP13_uc002blx.1_Missense_Mutation_p.R604G	71	GBM-06-0875-TP	p.R2359G	C	CACCAGAGCCCGAGAATTAAA	NM_007200	NP_009131	86270682	Q12802	AKP13_HUMAN	0			29	7245	+	G	G			Missense_Mutation	2359			Interaction with ESR1.|Potential.			
AKAP13	11214		GRCh37	15	86286791	86286791	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000361243.2:c.8139G>A	p.Ser2713=	p.S2713=	ENST00000361243	NM_006738.5	2713	tcG/tcA	0																																																																																																																																																																																																																																												
AKAP14	158798		GRCh37	X	119048716	119048716	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000371431.3:c.316G>C	p.Asp106His	p.D106H	ENST00000371431	NM_178813.5	106	Gac/Cac	0																																																																																																																																																																																																																																												
AKAP4	8852		GRCh37	X	49957245	49957245	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000358526.2:c.2119C>T	p.Leu707Phe	p.L707F	ENST00000358526	NM_003886.2	707	Ctc/Ttc	0																																																																																																																																																																																																																																												
AKAP5	0	broad.mit.edu	GRCh37	14	64936331	64936331	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-26-5133-01	TCGA-26-5133-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320636.5:c.1219T>C	p.Ser407Pro	p.S407P	ENST00000320636		407	Tca/Cca	0			1			C	S/P	uc001xhd.3	protein_coding		CCDS9764.1			1219/1284										0	c.(1219-1221)TCA>CCA			hmmpanther:PTHR15182,hmmpanther:PTHR15182:SF0	A-kinase anchor protein 5				ENSP00000315615		1-Jan									COSM3401408	1-Jan	.		ENST00000320636	Transcript			energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding	ENSG00000179841	g.chr14:64936331T>C	375			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=AKAP5_HUMAN&rb=315&re=425&var=S407P	getma.org/pdb.php?prot=AKAP5_HUMAN&from=315&to=425&var=S407P	getma.org/?cm=var&var=hg19,14,64936331,T,C&fts=all	S407P	--	--	1																																		ZBTB25_uc001xhc.2_Intron	1			probably_damaging(0.997)	p.S407P	NM_004857	NP_004848		deleterious(0)	1	AKAP5_HUMAN	AKAP5	HGNC	P24588	AKAP5_HUMAN		all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)			2	1597	+			UPI0000140927	407	S -> Y (in Ref. 3).				SNV	AKAP5,missense_variant,p.Ser407Pro,ENST00000394718,NM_004857.3;AKAP5,missense_variant,p.Ser407Pro,ENST00000320636,;ZBTB25,intron_variant,,ENST00000555220,;ZBTB25,intron_variant,,ENST00000555424,;	uc001xhd.3	c.1219T>C	2507/2601	3	3			c.1219T>C						14	SNP	c.(1219-1221)TCA>CCA	49	49				0	Broad	A-kinase anchor protein 5			64936331		0.348	ENSG00000179841	450	g.chr14:64936331T>C	energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding							35.546854	KEEP	8	14	-1	72	102	8	14	-1	61.074262	72	102	0.117978	1	0	0	0	0	1	0	0	0	--	--		0	C			ZBTB25_uc001xhc.2_Intron	182	GBM-26-5133-TP	p.S407P	T	TATTCAGTTGTCAATAGAACA	NM_004857	NP_004848	64936331	P24588	AKAP5_HUMAN	0		all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)	2	1597	+	C	C			Missense_Mutation	407	S -> Y (in Ref. 3).					
AKAP6	9472	broad.mit.edu	GRCh37	14	33290999	33290999	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-02-0003-01	TCGA-02-0003-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000280979.4:c.3980A>G	p.Asp1327Gly	p.D1327G	ENST00000280979	NM_004274.4	1327	gAc/gGc	0			1			G	D/G	uc001wrq.2	protein_coding	YES	CCDS9644.1			3980/6960									breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	c.(3979-3981)GAC>GGC			Low_complexity_(Seg):seg,hmmpanther:PTHR14514,hmmpanther:PTHR14514:SF2	A-kinase anchor protein 6				ENSP00000280979		13/14									COSM2148889	13/14	.		ENST00000280979	Transcript			protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	ENSG00000151320	g.chr14:33290999A>G	376			MODERATE		1.725	low	getma.org/?cm=msa&ty=f&p=AKAP6_HUMAN&rb=1200&re=2317&var=D1327G	NA	getma.org/?cm=var&var=hg19,14,33290999,A,G&fts=all	D1327G	--	--	1																																			1	1		probably_damaging(0.998)	p.D1327G	NM_004274	NP_004265		deleterious(0.04)	1	AKAP6_HUMAN	AKAP6	HGNC	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	G3V569_HUMAN,G3V3H6_HUMAN,G3V3H2_HUMAN,G3V3B5_HUMAN,D3DS91_HUMAN		13	4150	+	Breast(36;0.0388)|Prostate(35;0.15)		UPI000013DC48	1327					SNV	AKAP6,missense_variant,p.Asp1327Gly,ENST00000280979,NM_004274.4;AKAP6,intron_variant,,ENST00000557272,;	uc001wrq.2	c.3980A>G	4150/8686	3	3			c.3980A>G						14	SNP	c.(3979-3981)GAC>GGC	1	1			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Broad	A-kinase anchor protein 6			33290999		0.418	ENSG00000151320	451	g.chr14:33290999A>G	protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	Melanoma(49;821 1200 7288 13647 42351)		483	Melanoma(49;821 1200 7288 13647 42351)		483	156.374953	KEEP	30	19	-1	25	53	30	19	-1	157.504458	25	53	0.396694	1	0	0	0	0	1	0	0	0	--	--		0	G				1	GBM-02-0003-TP	p.D1327G	A	CTCAGTAAAGACTCTTCATTT	NM_004274	NP_004265	33290999	Q13023	AKAP6_HUMAN	0	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	4150	+	G	G	Breast(36;0.0388)|Prostate(35;0.15)		Missense_Mutation	1327						
AKAP6	9472	broad.mit.edu	GRCh37	14	33290671	33290671	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0745-01	TCGA-06-0745-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000280979.4:c.3652G>C	p.Glu1218Gln	p.E1218Q	ENST00000280979	NM_004274.4	1218	Gaa/Caa	0			1			C	E/Q	uc001wrq.2	protein_coding	YES	CCDS9644.1			3652/6960									breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	c.(3652-3654)GAA>CAA			hmmpanther:PTHR14514,hmmpanther:PTHR14514:SF2	A-kinase anchor protein 6				ENSP00000280979		13/14									COSM433015	13/14	.		ENST00000280979	Transcript			protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	ENSG00000151320	g.chr14:33290671G>C	376			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=AKAP6_HUMAN&rb=1200&re=2317&var=E1218Q	NA	getma.org/?cm=var&var=hg19,14,33290671,G,C&fts=all	E1218Q	--	--	1																																			1	1		probably_damaging(0.997)	p.E1218Q	NM_004274	NP_004265		deleterious(0)	1	AKAP6_HUMAN	AKAP6	HGNC	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	G3V569_HUMAN,G3V3H6_HUMAN,G3V3H2_HUMAN,G3V3B5_HUMAN,D3DS91_HUMAN		13	3822	+	Breast(36;0.0388)|Prostate(35;0.15)		UPI000013DC48	1218					SNV	AKAP6,missense_variant,p.Glu1218Gln,ENST00000280979,NM_004274.4;AKAP6,intron_variant,,ENST00000557272,;	uc001wrq.2	c.3652G>C	3822/8686	3	3			c.3652G>C						14	SNP	c.(3652-3654)GAA>CAA	64	64			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Broad	A-kinase anchor protein 6			33290671		0.393	ENSG00000151320	451	g.chr14:33290671G>C	protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	Melanoma(49;821 1200 7288 13647 42351)		483	Melanoma(49;821 1200 7288 13647 42351)		483	189.07897	KEEP	28	26	-1	17	9	28	26	-1	191.507297	17	9	0.694444	1	0	0	0	0	1	0	0	0	--	--		0	C				67	GBM-06-0745-TP	p.E1218Q	G	GGATGCCCTGGAATGGGATGA	NM_004274	NP_004265	33290671	Q13023	AKAP6_HUMAN	0	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	3822	+	C	C	Breast(36;0.0388)|Prostate(35;0.15)		Missense_Mutation	1218						
AKAP6	0	broad.mit.edu	GRCh37	14	33014783	33014783	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000280979.4:c.924G>T	p.Glu308Asp	p.E308D	ENST00000280979	NM_004274.4	308	gaG/gaT	0			1			T	E/D	uc001wrq.2	protein_coding	YES	CCDS9644.1			924/6960									breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	c.(922-924)GAG>GAT			hmmpanther:PTHR14514,hmmpanther:PTHR14514:SF2	A-kinase anchor protein 6				ENSP00000280979		14-Apr									COSM3401296	14-Apr	.		ENST00000280979	Transcript			protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	ENSG00000151320	g.chr14:33014783G>T	376			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=AKAP6_HUMAN&rb=1&re=773&var=E308D	NA	getma.org/?cm=var&var=hg19,14,33014783,G,T&fts=all	E308D	--	--	1																																		AKAP6_uc010aml.2_Missense_Mutation_p.E305D	1	1		benign(0.002)	p.E308D	NM_004274	NP_004265		tolerated_low_confidence(0.12)	1	AKAP6_HUMAN	AKAP6	HGNC	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	G3V569_HUMAN,G3V3H6_HUMAN,G3V3H2_HUMAN,G3V3B5_HUMAN,D3DS91_HUMAN		4	1094	+	Breast(36;0.0388)|Prostate(35;0.15)		UPI000013DC48	308					SNV	AKAP6,missense_variant,p.Glu308Asp,ENST00000280979,NM_004274.4;AKAP6,missense_variant,p.Glu308Asp,ENST00000557354,;AKAP6,missense_variant,p.Glu308Asp,ENST00000557272,;AKAP6,missense_variant,p.Glu66Asp,ENST00000553547,;AKAP6,downstream_gene_variant,,ENST00000556638,;AKAP6,downstream_gene_variant,,ENST00000554410,;	uc001wrq.2	c.924G>T	1094/8686	1	1			c.924G>T						14	SNP	c.(922-924)GAG>GAT	14	14			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Broad	A-kinase anchor protein 6			33014783		0.488	ENSG00000151320	451	g.chr14:33014783G>T	protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	Melanoma(49;821 1200 7288 13647 42351)		483	Melanoma(49;821 1200 7288 13647 42351)		483	-17.801496	KEEP	2	2	0.5	46	63	2	2	0.5	7.569684	46	63	0.036697	1	0	0	0	0	1	0	0	0	--	--		0	T			AKAP6_uc010aml.2_Missense_Mutation_p.E305D	235	GBM-32-2491-TP	p.E308D	G	GTGGATGTGAGGAAGACAATG	NM_004274	NP_004265	33014783	Q13023	AKAP6_HUMAN	0	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	4	1094	+	T	T	Breast(36;0.0388)|Prostate(35;0.15)		Missense_Mutation	308						
AKAP8	10270	broad.mit.edu	GRCh37	19	15484143	15484143	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01	TCGA-06-0155-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269701.2:c.380G>A	p.Arg127His	p.R127H	ENST00000269701	NM_005858.3	127	cGc/cAc	0			1			T	R/H	uc002nav.2	protein_coding	YES	CCDS12329.1			380/2079									ovary(1)|breast(1)	2	c.(379-381)CGC>CAC			hmmpanther:PTHR12190:SF5,hmmpanther:PTHR12190	A-kinase anchor protein 8				ENSP00000269701		14-May									COSM2149995	14-May	.		ENST00000269701	Transcript			signal transduction	nuclear matrix		ENSG00000105127	g.chr19:15484143C>T	378			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=AKAP8_HUMAN&rb=1&re=381&var=R127H	NA	getma.org/?cm=var&var=hg19,19,15484143,C,T&fts=all	R127H	--	--	1																																		AKAP8_uc010dzy.2_5'UTR|AKAP8_uc010dzz.1_RNA|AKAP8_uc010xog.1_5'UTR	1	1		possibly_damaging(0.479)	p.R127H	NM_005858	NP_005849		deleterious(0.04)	1	AKAP8_HUMAN	AKAP8	HGNC	O43823	AKAP8_HUMAN			Q9UG73_HUMAN		5	441	-			UPI000012575C	127					SNV	AKAP8,missense_variant,p.Arg127His,ENST00000269701,NM_005858.3;AKAP8,missense_variant,p.Ala34Thr,ENST00000599883,;AKAP8,non_coding_transcript_exon_variant,,ENST00000537303,;AKAP8,upstream_gene_variant,,ENST00000598597,;AKAP8,downstream_gene_variant,,ENST00000595416,;	uc002nav.2	c.380G>A	441/3670	1	1			c.380G>A						19	SNP	c.(379-381)CGC>CAC	13	13			ovary(1)|breast(1)	2	Broad	A-kinase anchor protein 8			15484143		0.607	ENSG00000105127	453	g.chr19:15484143C>T	signal transduction	nuclear matrix		GBM(190;1671 2163 3274 27186 30476)			GBM(190;1671 2163 3274 27186 30476)			22.158324	KEEP	4	5	-1	14	19	4	5	-1	24.561718	14	19	0.236842	1	0	0	0	0	1	0	0	0	--	--		0	T			AKAP8_uc010dzy.2_5'UTR|AKAP8_uc010dzz.1_RNA|AKAP8_uc010xog.1_5'UTR	27	GBM-06-0155-TP	p.R127H	C	CGGCTGGAAGCGGAAGGAGCT	NM_005858	NP_005849	15484143	O43823	AKAP8_HUMAN	0			5	441	-	T	T			Missense_Mutation	127						
AKAP8	10270		GRCh37	19	15484623	15484623	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000269701.2:c.345T>C	p.Gly115=	p.G115=	ENST00000269701	NM_005858.3	115	ggT/ggC	0																																																																																																																																																																																																																																												
AKAP8L	26993		GRCh37	19	15510183	15510183	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000397410.5:c.1087C>T	p.Arg363Cys	p.R363C	ENST00000397410	NM_014371.2	363	Cgc/Tgc	0																																																																																																																																																																																																																																												
AKAP9	0	broad.mit.edu	GRCh37	7	91674419	91674419	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01	TCGA-12-1597-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356239.3:c.5260C>T	p.Leu1754Phe	p.L1754F	ENST00000356239	NM_147185.2	1754	Ctt/Ttt	0			1			T	L/F	uc003ulg.2	protein_coding	YES	CCDS5622.1			5260/11724	T		BRAF		papillary thyroid				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	c.(5260-5262)CTT>TTT			hmmpanther:PTHR18932,hmmpanther:PTHR18932:SF10	A-kinase anchor protein 9 isoform 2				ENSP00000348573		21/50									COSM3412471,COSM3412470	21/50	.		ENST00000356239	Transcript	1		G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	ENSG00000127914	g.chr7:91674419C>T	379			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=AKAP9_HUMAN&rb=922&re=2074&var=L1766F	NA	getma.org/?cm=var&var=hg19,7,91674419,C,T&fts=all	L1766F	--	--	1																																		AKAP9_uc003ulf.2_Missense_Mutation_p.L1754F|AKAP9_uc003uli.2_Missense_Mutation_p.L1379F	1,1	1		probably_damaging(0.948)	p.L1754F	NM_005751	NP_005742			1,1	AKAP9_HUMAN	AKAP9	HGNC	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Q8IW64_HUMAN		21	5485	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		UPI000002A38D	1766					SNV	AKAP9,missense_variant,p.Leu1766Phe,ENST00000359028,;AKAP9,missense_variant,p.Leu1754Phe,ENST00000356239,NM_147185.2,NM_005751.4;AKAP9,missense_variant,p.Leu1766Phe,ENST00000358100,;AKAP9,downstream_gene_variant,,ENST00000493453,;AKAP9,downstream_gene_variant,,ENST00000484815,;	uc003ulg.2	c.5260C>T	5493/12471	1	1			c.5260C>T	T		BRAF		papillary thyroid	7	SNP	c.(5260-5262)CTT>TTT	7	7			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	Broad	A-kinase anchor protein 9 isoform 2			91674419		0.423	ENSG00000127914	455	g.chr7:91674419C>T	G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			807			807	-49.141892	KEEP	3	2	-1	119	118	3	2	-1	9.057993	119	118	0.02193	1	0	0	0	0	1	0	0	0	--	--		0	T			AKAP9_uc003ulf.2_Missense_Mutation_p.L1754F|AKAP9_uc003uli.2_Missense_Mutation_p.L1379F	124	GBM-12-1597-TP	p.L1754F	C	TCGCCATGTCCTTGGGATTCT	NM_005751	NP_005742	91674419	Q99996	AKAP9_HUMAN	0	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		21	5485	+	T	T	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		Missense_Mutation	1766						
AKAP9	0	broad.mit.edu	GRCh37	7	91668077	91668078	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	GA			TCGA-19-1790-01	TCGA-19-1790-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356239.3:c.4683_4684insGA	p.Arg1562GlufsTer20	p.R1562Efs*20	ENST00000356239	NM_147185.2	1561	-/GA	0			1			GA	-/X	uc003ulg.2	protein_coding	YES	CCDS5622.1			4683-4684/11724	T		BRAF		papillary thyroid				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	c.(4681-4686)GTTAGAfs			hmmpanther:PTHR18932,hmmpanther:PTHR18932:SF10	A-kinase anchor protein 9 isoform 2				ENSP00000348573		17/50										17/50	.		ENST00000356239	Transcript	1		G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	ENSG00000127914	g.chr7:91668077_91668078insGA	379			HIGH								--	--	1																																		AKAP9_uc003ule.2_Frame_Shift_Ins_p.V1573fs|AKAP9_uc003ulf.2_Frame_Shift_Ins_p.V1561fs|AKAP9_uc003uli.2_Frame_Shift_Ins_p.V1186fs		1			p.V1561fs	NM_005751	NP_005742				AKAP9_HUMAN	AKAP9	HGNC	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Q8IW64_HUMAN		17	4908_4909	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		UPI000002A38D	1573_1574					insertion	AKAP9,frameshift_variant,p.Arg1574GlufsTer20,ENST00000359028,;AKAP9,frameshift_variant,p.Arg1562GlufsTer20,ENST00000356239,NM_147185.2,NM_005751.4;AKAP9,frameshift_variant,p.Arg1574GlufsTer20,ENST00000358100,;AKAP9,non_coding_transcript_exon_variant,,ENST00000493453,;AKAP9,upstream_gene_variant,,ENST00000484815,;	uc003ulg.2	c.4683_4684insGA	4916-4917/12471	5	5			c.4683_4684insGA	T		BRAF		papillary thyroid	7	INS	c.(4681-4686)GTTAGAfs	13	13			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	Broad	A-kinase anchor protein 9 isoform 2			91668078		0.287	ENSG00000127914	455	g.chr7:91668077_91668078insGA	G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			807			807														0.22	1	0	0	1	1	0	0	0	0	--	--		0	GA			AKAP9_uc003ule.2_Frame_Shift_Ins_p.V1573fs|AKAP9_uc003ulf.2_Frame_Shift_Ins_p.V1561fs|AKAP9_uc003uli.2_Frame_Shift_Ins_p.V1186fs	160	GBM-19-1790-TP	p.V1561fs	-	CATTTATAGTTAGACAGTCTGT	NM_005751	NP_005742	91668077	Q99996	AKAP9_HUMAN	0	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		17	4908_4909	+	GA	GA	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		Frame_Shift_Ins	1573_1574						
AKAP9	0	broad.mit.edu	GRCh37	7	91708676	91708676	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-28-5219-01	TCGA-28-5219-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356239.3:c.7230delC	p.Phe2411SerfsTer2	p.F2411Sfs*2	ENST00000356239	NM_147185.2	2410	aCc/ac	0			1			-	T/X	uc003ulg.2	protein_coding	YES	CCDS5622.1			7229/11724	T		BRAF		papillary thyroid				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	c.(7228-7230)ACCfs			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18932,hmmpanther:PTHR18932:SF10	A-kinase anchor protein 9 isoform 2				ENSP00000348573		31/50										31/50	.		ENST00000356239	Transcript	1		G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	ENSG00000127914	g.chr7:91708676delC	379	1		HIGH								--	--	1																																		AKAP9_uc003ulf.2_Frame_Shift_Del_p.T2402fs|AKAP9_uc003uli.2_Frame_Shift_Del_p.T2033fs|AKAP9_uc003ulj.2_Frame_Shift_Del_p.T180fs		1			p.T2410fs	NM_005751	NP_005742				AKAP9_HUMAN	AKAP9	HGNC	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Q8IW64_HUMAN		31	7454	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		UPI000002A38D	2422			Potential.|Glu-rich.		deletion	AKAP9,frameshift_variant,p.Phe2423SerfsTer2,ENST00000359028,;AKAP9,frameshift_variant,p.Phe2411SerfsTer2,ENST00000356239,NM_147185.2,NM_005751.4;AKAP9,frameshift_variant,p.Phe2423SerfsTer2,ENST00000358100,;AKAP9,frameshift_variant,p.Phe257SerfsTer2,ENST00000394534,;AKAP9,upstream_gene_variant,,ENST00000435423,;	uc003ulg.2	c.7229delC	7462/12471	5	5			c.7229delC	T		BRAF		papillary thyroid	7	DEL	c.(7228-7230)ACCfs	57	57			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	Broad	A-kinase anchor protein 9 isoform 2			91708676		0.353	ENSG00000127914	455	g.chr7:91708676delC	G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			807			807														0.18	1	1	0	1	0	0	0	0	0	--	--		0	-			AKAP9_uc003ulf.2_Frame_Shift_Del_p.T2402fs|AKAP9_uc003uli.2_Frame_Shift_Del_p.T2033fs|AKAP9_uc003ulj.2_Frame_Shift_Del_p.T180fs	225	GBM-28-5219-TP	p.T2410fs	C	GAAGAAATGACCTTCATGAAA	NM_005751	NP_005742	91708676	Q99996	AKAP9_HUMAN	0	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		31	7454	+	-	-	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		Frame_Shift_Del	2422			Potential.|Glu-rich.			
AKAP9	0	broad.mit.edu	GRCh37	7	91624020	91624020	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-5220-01	TCGA-28-5220-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356239.3:c.662A>G	p.Lys221Arg	p.K221R	ENST00000356239	NM_147185.2	221	aAg/aGg	0			1			G	K/R	uc003ulg.2	protein_coding	YES	CCDS5622.1			662/11724	T		BRAF		papillary thyroid				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	c.(661-663)AAG>AGG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18932,hmmpanther:PTHR18932:SF10	A-kinase anchor protein 9 isoform 2				ENSP00000348573		Jun-50									COSM3412469,COSM3412468	Jun-50	.		ENST00000356239	Transcript	1		G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	ENSG00000127914	g.chr7:91624020A>G	379			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=AKAP9_HUMAN&rb=201&re=282&var=K233R	NA	getma.org/?cm=var&var=hg19,7,91624020,A,G&fts=all	K233R	--	--	1																																		AKAP9_uc003uld.3_Missense_Mutation_p.K221R|AKAP9_uc003ule.2_Missense_Mutation_p.K233R|AKAP9_uc003ulf.2_Missense_Mutation_p.K221R	1,1	1		benign(0.034)	p.K221R	NM_005751	NP_005742			1,1	AKAP9_HUMAN	AKAP9	HGNC	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Q8IW64_HUMAN		6	887	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		UPI000002A38D	233			Potential.|Gln-rich.		SNV	AKAP9,missense_variant,p.Lys233Arg,ENST00000359028,;AKAP9,missense_variant,p.Lys221Arg,ENST00000356239,NM_147185.2,NM_005751.4;AKAP9,missense_variant,p.Lys233Arg,ENST00000358100,;AKAP9,missense_variant,p.Lys221Arg,ENST00000394564,;AKAP9,missense_variant,p.Lys172Arg,ENST00000438114,;AKAP9,non_coding_transcript_exon_variant,,ENST00000493453,;	uc003ulg.2	c.662A>G	895/12471	4	4			c.662A>G	T		BRAF		papillary thyroid	7	SNP	c.(661-663)AAG>AGG	32	32			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	Broad	A-kinase anchor protein 9 isoform 2			91624020		0.318	ENSG00000127914	455	g.chr7:91624020A>G	G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			807			807	-37.470684	KEEP	0	3	-1	94	87	0	3	-1	6.79161	94	87	0.017751	1	0	0	0	0	1	0	0	0	--	--		0	G			AKAP9_uc003uld.3_Missense_Mutation_p.K221R|AKAP9_uc003ule.2_Missense_Mutation_p.K233R|AKAP9_uc003ulf.2_Missense_Mutation_p.K221R	226	GBM-28-5220-TP	p.K221R	A	AGAAGAGAAAAGGATGAGACA	NM_005751	NP_005742	91624020	Q99996	AKAP9_HUMAN	0	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		6	887	+	G	G	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		Missense_Mutation	233			Potential.|Gln-rich.			
AKAP9	0	broad.mit.edu	GRCh37	7	91711915	91711915	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-76-4929-01	TCGA-76-4929-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356239.3:c.8099delC	p.Ala2700ValfsTer22	p.A2700Vfs*22	ENST00000356239	NM_147185.2	2700	gCt/gt	0			1			-	A/X	uc003ulg.2	protein_coding	YES	CCDS5622.1			8099/11724	T		BRAF		papillary thyroid				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	c.(8098-8100)GCTfs			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18932,hmmpanther:PTHR18932:SF10	A-kinase anchor protein 9 isoform 2				ENSP00000348573		32/50										32/50	.		ENST00000356239	Transcript	1		G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	ENSG00000127914	g.chr7:91711915delC	379			HIGH								--	--	1																																		AKAP9_uc003ulf.2_Frame_Shift_Del_p.A2692fs|AKAP9_uc003uli.2_Frame_Shift_Del_p.A2323fs|AKAP9_uc003ulj.2_Frame_Shift_Del_p.A470fs|AKAP9_uc003ulk.2_5'Flank		1			p.A2700fs	NM_005751	NP_005742				AKAP9_HUMAN	AKAP9	HGNC	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Q8IW64_HUMAN		32	8324	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		UPI000002A38D	2712			Potential.|Glu-rich.		deletion	AKAP9,frameshift_variant,p.Ala2712ValfsTer22,ENST00000359028,;AKAP9,frameshift_variant,p.Ala2700ValfsTer22,ENST00000356239,NM_147185.2,NM_005751.4;AKAP9,frameshift_variant,p.Ala2712ValfsTer22,ENST00000358100,;AKAP9,frameshift_variant,p.Ala546ValfsTer22,ENST00000394534,;AKAP9,upstream_gene_variant,,ENST00000435423,;	uc003ulg.2	c.8099delC	8332/12471	5	5			c.8099delC	T		BRAF		papillary thyroid	7	DEL	c.(8098-8100)GCTfs	49	49			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	Broad	A-kinase anchor protein 9 isoform 2			91711915		0.373	ENSG00000127914	455	g.chr7:91711915delC	G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			807			807														0.18	1	1	0	1	0	0	0	0	0	--	--		0	-			AKAP9_uc003ulf.2_Frame_Shift_Del_p.A2692fs|AKAP9_uc003uli.2_Frame_Shift_Del_p.A2323fs|AKAP9_uc003ulj.2_Frame_Shift_Del_p.A470fs|AKAP9_uc003ulk.2_5'Flank	269	GBM-76-4929-TP	p.A2700fs	C	GAATCAGTGGCTACCAAAGCA	NM_005751	NP_005742	91711915	Q99996	AKAP9_HUMAN	0	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		32	8324	+	-	-	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		Frame_Shift_Del	2712			Potential.|Glu-rich.			
AKNA	0	broad.mit.edu	GRCh37	9	117099371	117099371	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-1747-01	TCGA-28-1747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307564.4:c.4283G>A	p.Arg1428His	p.R1428H	ENST00000307564	NM_030767.4	1428	cGc/cAc	0			1			T	R/H	uc004biq.3	protein_coding	YES	CCDS6805.1			4283/4320									ovary(4)|central_nervous_system(2)	6	c.(4282-4284)CGC>CAC			hmmpanther:PTHR21510:SF12,hmmpanther:PTHR21510	AT-hook transcription factor				ENSP00000303769		22/22	4.95E-05			0.000999		6.10E-05			rs776409662,COSM3413293	22/22	common_variant		ENST00000307564	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	ENSG00000106948	g.chr9:117099371C>T	24108			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=AKNA_HUMAN&rb=1298&re=1439&var=R1428H	NA	getma.org/?cm=var&var=hg19,9,117099371,C,T&fts=all	R1428H	--	--	1																																		AKNA_uc004bin.3_Missense_Mutation_p.R675H|AKNA_uc004bio.3_Missense_Mutation_p.R888H|AKNA_uc004bip.3_Missense_Mutation_p.R1347H|AKNA_uc004bir.3_Missense_Mutation_p.R1428H|AKNA_uc004bis.3_Missense_Mutation_p.R1428H|AKNA_uc010mve.2_Missense_Mutation_p.R1309H	0,1	1		possibly_damaging(0.512)	p.R1428H	NM_030767	NP_110394		tolerated(0.1)	0,1	AKNA_HUMAN	AKNA	HGNC	Q7Z591	AKNA_HUMAN					21	4418	-			UPI000021168C	1428					SNV	AKNA,missense_variant,p.Arg1428His,ENST00000307564,NM_030767.4;AKNA,missense_variant,p.Arg1428His,ENST00000374088,;AKNA,missense_variant,p.Arg1347His,ENST00000374075,;AKNA,missense_variant,p.Arg888His,ENST00000223791,;AKNA,missense_variant,p.Arg373His,ENST00000374079,;ORM2,downstream_gene_variant,,ENST00000431067,NM_000608.2;AKNA,non_coding_transcript_exon_variant,,ENST00000492875,;	uc004biq.3	c.4283G>A	4445/7380	2	2			c.4283G>A						9	SNP	c.(4282-4284)CGC>CAC	34	34			ovary(4)|central_nervous_system(2)	6	Broad	AT-hook transcription factor			117099371		0.682	ENSG00000106948	459	g.chr9:117099371C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding							14.540917	KEEP	3	3	-1	9	5	3	3	-1	15.115679	9	5	0.315789	1	0	0	0	0	1	0	0	0	--	--		0	T			AKNA_uc004bin.3_Missense_Mutation_p.R675H|AKNA_uc004bio.3_Missense_Mutation_p.R888H|AKNA_uc004bip.3_Missense_Mutation_p.R1347H|AKNA_uc004bir.3_Missense_Mutation_p.R1428H|AKNA_uc004bis.3_Missense_Mutation_p.R1428H|AKNA_uc010mve.2_Missense_Mutation_p.R1309H	206	GBM-28-1747-TP	p.R1428H	C	GTGAGCCTGGCGCAGGTCGGC	NM_030767	NP_110394	117099371	Q7Z591	AKNA_HUMAN	0			21	4418	-	T	T			Missense_Mutation	1428						
AKR1A1	10327	broad.mit.edu	GRCh37	1	46027470	46027470	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01	TCGA-06-0646-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372070.3:c.4G>A	p.Ala2Thr	p.A2T	ENST00000372070	NM_006066.3	2	Gcg/Acg	0			1			A	A/T	uc001cod.2	protein_coding		CCDS523.1			4/978										0	c.(4-6)GCG>ACG			PIRSF_domain:PIRSF000097	aldo-keto reductase family 1, member A1				ENSP00000312606		9-Feb									COSM2151302	9-Feb	.		ENST00000351829	Transcript			glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding	ENSG00000117448	g.chr1:46027470G>A	380			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=AK1A1_HUMAN&rb=1&re=45&var=A2T	getma.org/pdb.php?prot=AK1A1_HUMAN&from=1&to=15&var=A2T	getma.org/?cm=var&var=hg19,1,46027470,G,A&fts=all	A2T	--	--	1																																		AKR1A1_uc009vxw.2_Missense_Mutation_p.A2T|AKR1A1_uc001coe.2_Missense_Mutation_p.A2T	1			benign(0.001)	p.A2T	NM_006066	NP_006057		tolerated(0.21)	1	AK1A1_HUMAN	AKR1A1	HGNC	P14550	AK1A1_HUMAN			Q5T621_HUMAN		3	468	+	Acute lymphoblastic leukemia(166;0.155)		UPI000013D31D	2					SNV	AKR1A1,missense_variant,p.Ala2Thr,ENST00000372070,NM_006066.3,NM_001202414.1,NM_001202413.1;AKR1A1,missense_variant,p.Ala2Thr,ENST00000351829,NM_153326.2;AKR1A1,missense_variant,p.Ala2Thr,ENST00000471651,;AKR1A1,missense_variant,p.Ala2Thr,ENST00000434299,;AKR1A1,missense_variant,p.Ala2Thr,ENST00000481885,;AKR1A1,intron_variant,,ENST00000476957,;AKR1A1,intron_variant,,ENST00000496999,;	uc001cod.2	c.4G>A	99/1166	2	2			c.4G>A						1	SNP	c.(4-6)GCG>ACG	46	46				0	Broad	aldo-keto reductase family 1, member A1			46027470		0.507	ENSG00000117448	461	g.chr1:46027470G>A	glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding							220.807021	KEEP	46	43	-1	59	46	46	43	-1	221.058938	59	46	0.548387	1	0	0	0	0	1	0	0	0	--	--		0	A			AKR1A1_uc009vxw.2_Missense_Mutation_p.A2T|AKR1A1_uc001coe.2_Missense_Mutation_p.A2T	60	GBM-06-0646-TP	p.A2T	G	GGGGGCAATGGCGGCTTCCTG	NM_006066	NP_006057	46027470	P14550	AK1A1_HUMAN	0			3	468	+	A	A	Acute lymphoblastic leukemia(166;0.155)		Missense_Mutation	2						
AKR1B10	0	broad.mit.edu	GRCh37	7	134222353	134222353	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-06-6700-01	TCGA-06-6700-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359579.4:c.681C>G	p.Ser227=	p.S227=	ENST00000359579	NM_020299.4	227	tcC/tcG	0			1			G	S	uc003vrr.2	protein_coding	YES	CCDS5832.1			681/951									skin(5)	5	c.(679-681)TCC>TCG			hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF156,Pfam_domain:PF00248,Gene3D:3.20.20.100,PIRSF_domain:PIRSF000097,Superfamily_domains:SSF51430	aldo-keto reductase family 1, member B10				ENSP00000352584		10-Jul									COSM3411602	10-Jul	.		ENST00000359579	Transcript			cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	ENSG00000198074	g.chr7:134222353C>G	382			LOW								--	--	1																																			1	1			p.S227S	NM_020299	NP_064695			1	AK1BA_HUMAN	AKR1B10	HGNC	O60218	AK1BA_HUMAN					7	1001	+			UPI00000362E9	227					SNV	AKR1B10,synonymous_variant,p.=,ENST00000359579,NM_020299.4;AKR1B10,non_coding_transcript_exon_variant,,ENST00000498818,;AKR1B10,downstream_gene_variant,,ENST00000475559,;AKR1B10,upstream_gene_variant,,ENST00000496435,;	uc003vrr.2	c.681C>G	1001/1590	4	4			c.681C>G						7	SNP	c.(679-681)TCC>TCG	17	17			skin(5)	5	Broad	aldo-keto reductase family 1, member B10			134222353		0.463	ENSG00000198074	463	g.chr7:134222353C>G	cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding							-12.320131	KEEP	5	4	-1	72	78	5	4	-1	16.244082	72	78	0.057554	1	0	0	0	0	0	0	1	0	--	--		0	G				114	GBM-06-6700-TP	p.S227S	C	AAGACCCTTCCCTGCTGGAGG	NM_020299	NP_064695	134222353	O60218	AK1BA_HUMAN	0			7	1001	+	G	G			Silent	227						
AKR1B15	0	broad.mit.edu	GRCh37	7	134260192	134260192	+	synonymous_variant	Silent	SNP	C	C	T	rs4035285		TCGA-27-1833-01	TCGA-27-1833-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000457545.2:c.534C>T	p.Asp178=	p.D178=	ENST00000457545	NM_001080538.2	178	gaC/gaT	0	G:0		1			T	D	uc011kpr.1	protein_coding	YES	CCDS47715.2			534/1035									ovary(1)	1	c.(532-534)GAC>GAT			Gene3D:3.20.20.100,Pfam_domain:PF00248,PIRSF_domain:PIRSF000097,Prints_domain:PR00069,PROSITE_patterns:PS00062,hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF197,Superfamily_domains:SSF51430	aldo-keto reductase family 1, member B15			G:0.0002	ENSP00000389289		12-Jul	0.000206	0.000193		0.00152		0.000105	0.00111	0.000121	rs4035285,COSM2858701,COSM2858702,COSM2858700	12-Jul	common_variant		ENST00000457545	Transcript					oxidoreductase activity	ENSG00000227471	g.chr7:134260192C>T	37281			LOW								--	--	1																																		AKR1B15_uc011kps.1_Silent_p.D150D	0,1,1,1	1			p.D178D	NM_001080538	NP_001074007			0,1,1,1	AK1BF_HUMAN	AKR1B15	HGNC	C9JRZ8	AK1BF_HUMAN					7	833	+			UPI00004193E1	178					SNV	AKR1B15,synonymous_variant,p.=,ENST00000457545,NM_001080538.2;AKR1B15,synonymous_variant,p.=,ENST00000423958,;AKR1B15,downstream_gene_variant,,ENST00000467156,;	uc011kpr.1	c.534C>T	794/1621	2	2			c.534C>T						7	SNP	c.(532-534)GAC>GAT	30	30			ovary(1)	1	Broad	aldo-keto reductase family 1, member B15			134260192		0.517	ENSG00000227471	464	g.chr7:134260192C>T			oxidoreductase activity							115.770265	KEEP	27	32	-1	72	55	27	32	-1	122.108346	72	55	0.289308	1	0	0	0	0	0	0	1	0	--	--		0	T			AKR1B15_uc011kps.1_Silent_p.D150D	192	GBM-27-1833-TP	p.D178D	C	AGCTGGTGGACGAGGGGCTGG	NM_001080538	NP_001074007	134260192	C9JRZ8	AK1BF_HUMAN	0			7	833	+	T	T			Silent	178						
AKR1B15	0	broad.mit.edu	GRCh37	7	134254273	134254273	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-2573-01	TCGA-41-2573-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000457545.2:c.427G>A	p.Gly143Arg	p.G143R	ENST00000457545	NM_001080538.2	143	Gga/Aga	0			1			A	G/R	uc011kpr.1	protein_coding	YES	CCDS47715.2			427/1035									ovary(1)	1	c.(427-429)GGA>AGA			Gene3D:3.20.20.100,Pfam_domain:PF00248,PIRSF_domain:PIRSF000097,hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF197,Superfamily_domains:SSF51430	aldo-keto reductase family 1, member B15				ENSP00000389289		12-May									COSM3411604,COSM3411605,COSM3411603	12-May	.		ENST00000457545	Transcript					oxidoreductase activity	ENSG00000227471	g.chr7:134254273G>A	37281			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=AK1BF_HUMAN&rb=53&re=322&var=G143R	getma.org/pdb.php?prot=AK1BF_HUMAN&from=53&to=322&var=G143R	getma.org/?cm=var&var=hg19,7,134254273,G,A&fts=all	G143R	--	--	1																																		AKR1B15_uc003vrt.2_Missense_Mutation_p.G115R|AKR1B15_uc011kps.1_Missense_Mutation_p.G115R	1,1,1	1		benign(0.369)	p.G143R	NM_001080538	NP_001074007		deleterious(0.04)	1,1,1	AK1BF_HUMAN	AKR1B15	HGNC	C9JRZ8	AK1BF_HUMAN					5	726	+			UPI00004193E1	143					SNV	AKR1B15,missense_variant,p.Gly143Arg,ENST00000457545,NM_001080538.2;AKR1B15,missense_variant,p.Gly115Arg,ENST00000423958,;AKR1B15,non_coding_transcript_exon_variant,,ENST00000467156,;	uc011kpr.1	c.427G>A	687/1621	2	2			c.427G>A						7	SNP	c.(427-429)GGA>AGA	33	33			ovary(1)	1	Broad	aldo-keto reductase family 1, member B15			134254273		0.358	ENSG00000227471	464	g.chr7:134254273G>A			oxidoreductase activity							5.481965	KEEP	10	7	-1	96	91	10	7	-1	36.97902	96	91	0.083799	1	0	0	0	0	1	0	0	0	--	--		0	A			AKR1B15_uc003vrt.2_Missense_Mutation_p.G115R|AKR1B15_uc011kps.1_Missense_Mutation_p.G115R	252	GBM-41-2573-TP	p.G143R	G	CTGGCCACAGGGATTCAAGGT	NM_001080538	NP_001074007	134254273	C9JRZ8	AK1BF_HUMAN	0			5	726	+	A	A			Missense_Mutation	143						
AKR1C1	1645	broad.mit.edu	GRCh37	10	5014817	5014817	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-2557-01	TCGA-06-2557-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380872.4:c.722T>A	p.Leu241His	p.L241H	ENST00000380872	NM_001353.5	241	cTt/cAt	0			1			A	L/H	uc001iho.2	protein_coding	YES	CCDS7061.1			722/972									ovary(2)	2	c.(721-723)CTT>CAT			Gene3D:3.20.20.100,Pfam_domain:PF00248,PIRSF_domain:PIRSF000097,Prints_domain:PR00069,hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF201,Superfamily_domains:SSF51430	aldo-keto reductase family 1, member C1	NADH(DB00157)			ENSP00000370254		9-Jul									COSM3397148	9-Jul	.		ENST00000380872	Transcript			bile acid and bile salt transport|bile acid metabolic process|cholesterol homeostasis|intestinal cholesterol absorption|protein homooligomerization|response to organophosphorus|xenobiotic metabolic process	cytosol	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid binding|indanol dehydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	ENSG00000187134	g.chr10:5014817T>A	384			MODERATE		3.59	high	getma.org/?cm=msa&ty=f&p=AK1C1_HUMAN&rb=18&re=301&var=L241H	getma.org/pdb.php?prot=AK1C1_HUMAN&from=18&to=301&var=L241H	getma.org/?cm=var&var=hg19,10,5014817,T,A&fts=all	L241H	--	--	1																																		AKR1E2_uc001ihl.1_Intron|AKR1C2_uc010qan.1_Intron|AKR1C3_uc001ihr.2_Intron|AKR1C1_uc001ihq.2_Missense_Mutation_p.L241H	1	1		probably_damaging(0.997)	p.L241H	NM_001353	NP_001344		deleterious(0)	1	AK1C1_HUMAN	AKR1C1	HGNC	Q04828	AK1C1_HUMAN					12	1563	+			UPI0000125760	241			NADP (By similarity).		SNV	AKR1C1,missense_variant,p.Leu241His,ENST00000380872,NM_001353.5;AKR1C1,missense_variant,p.Leu241His,ENST00000434459,;AKR1C1,missense_variant,p.Leu208His,ENST00000442997,;AKR1C1,downstream_gene_variant,,ENST00000380859,;AKR1C1,non_coding_transcript_exon_variant,,ENST00000477661,;	uc001iho.2	c.722T>A	914/6705	1	1			c.722T>A						10	SNP	c.(721-723)CTT>CAT	61	61			ovary(2)	2	Broad	aldo-keto reductase family 1, member C1		NADH(DB00157)	5014817		0.592	ENSG00000187134	465	g.chr10:5014817T>A	bile acid and bile salt transport|bile acid metabolic process|cholesterol homeostasis|intestinal cholesterol absorption|protein homooligomerization|response to organophosphorus|xenobiotic metabolic process	cytosol	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid binding|indanol dehydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	Colon(130;2054 2316 13360 15380)			Colon(130;2054 2316 13360 15380)			26.332163	KEEP	9	10	-1	62	59	9	10	-1	32.60443	62	59	0.188406	1	0	0	0	0	1	0	0	0	--	--		0	A			AKR1E2_uc001ihl.1_Intron|AKR1C2_uc010qan.1_Intron|AKR1C3_uc001ihr.2_Intron|AKR1C1_uc001ihq.2_Missense_Mutation_p.L241H	81	GBM-06-2557-TP	p.L241H	T	GACCCAGTCCTTTGTGCCTTG	NM_001353	NP_001344	5014817	Q04828	AK1C1_HUMAN	0			12	1563	+	A	A			Missense_Mutation	241			NADP (By similarity).			
AKR1C4	0	broad.mit.edu	GRCh37	10	5254979	5254979	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-26-1439-01	TCGA-26-1439-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263126.1:c.703C>A	p.Leu235Ile	p.L235I	ENST00000263126	NM_001818.3	235	Ctt/Att	0			1			A	L/I	uc001ihw.2	protein_coding		CCDS7064.1			703/972									ovary(1)	1	c.(703-705)CTT>ATT			Gene3D:3.20.20.100,Pfam_domain:PF00248,PIRSF_domain:PIRSF000097,Prints_domain:PR00069,hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF134,Superfamily_domains:SSF51430	aldo-keto reductase family 1, member C4	NADH(DB00157)			ENSP00000263126		9-Jul									COSM918817	9-Jul	.		ENST00000263126	Transcript	1		androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity	ENSG00000198610	g.chr10:5254979C>A	387			MODERATE		1.56	low	getma.org/?cm=msa&ty=f&p=AK1C4_HUMAN&rb=18&re=301&var=L235I	getma.org/pdb.php?prot=AK1C4_HUMAN&from=18&to=301&var=L235I	getma.org/?cm=var&var=hg19,10,5254979,C,A&fts=all	L235I	--	--	1																																			1			probably_damaging(1)	p.L235I	NM_001818	NP_001809		deleterious(0.01)	1	AK1C4_HUMAN	AKR1C4	HGNC	P17516	AK1C4_HUMAN			Q96SD9_HUMAN		7	736	+			UPI000013D3B2	235			NADP.		SNV	AKR1C4,missense_variant,p.Leu235Ile,ENST00000380448,;AKR1C4,missense_variant,p.Leu235Ile,ENST00000263126,NM_001818.3;	uc001ihw.2	c.703C>A	736/1194	1	1			c.703C>A						10	SNP	c.(703-705)CTT>ATT	61	61			ovary(1)	1	Broad	aldo-keto reductase family 1, member C4		NADH(DB00157)	5254979		0.527	ENSG00000198610	468	g.chr10:5254979C>A	androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity							18.213978	KEEP	5	4	0.444444444	14	5	5	4	0.444444444	19.147802	14	5	0.291667	1	0	0	0	0	1	0	0	0	--	--		0	A				179	GBM-26-1439-TP	p.L235I	C	CTCCCCAGTTCTTTTGGAGGA	NM_001818	NP_001809	5254979	P17516	AK1C4_HUMAN	0			7	736	+	A	A			Missense_Mutation	235			NADP.			
AKR1C4	0	broad.mit.edu	GRCh37	10	5238864	5238864	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2615-01	TCGA-32-2615-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263126.1:c.34G>A	p.Asp12Asn	p.D12N	ENST00000263126	NM_001818.3	12	Gat/Aat	0			1			A	D/N	uc001ihw.2	protein_coding		CCDS7064.1			34/972									ovary(1)	1	c.(34-36)GAT>AAT			Gene3D:3.20.20.100,PIRSF_domain:PIRSF000097,hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF134,Superfamily_domains:SSF51430	aldo-keto reductase family 1, member C4	NADH(DB00157)			ENSP00000263126		9-Jan									COSM3397166	9-Jan	.		ENST00000263126	Transcript	1		androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity	ENSG00000198610	g.chr10:5238864G>A	387			MODERATE		1.095	low	getma.org/?cm=msa&ty=f&p=AK1C4_HUMAN&rb=1&re=47&var=D12N	getma.org/pdb.php?prot=AK1C4_HUMAN&from=1&to=17&var=D12N	getma.org/?cm=var&var=hg19,10,5238864,G,A&fts=all	D12N	--	--	1																																			1			probably_damaging(0.942)	p.D12N	NM_001818	NP_001809		tolerated(0.05)	1	AK1C4_HUMAN	AKR1C4	HGNC	P17516	AK1C4_HUMAN			Q96SD9_HUMAN		1	67	+			UPI000013D3B2	12					SNV	AKR1C4,missense_variant,p.Asp12Asn,ENST00000380448,;AKR1C4,missense_variant,p.Asp12Asn,ENST00000263126,NM_001818.3;AKR1CL1,intron_variant,,ENST00000445191,;U8,upstream_gene_variant,,ENST00000516100,;AKR1C4,non_coding_transcript_exon_variant,,ENST00000469875,;	uc001ihw.2	c.34G>A	67/1194	2	2			c.34G>A						10	SNP	c.(34-36)GAT>AAT	44	44			ovary(1)	1	Broad	aldo-keto reductase family 1, member C4		NADH(DB00157)	5238864		0.418	ENSG00000198610	468	g.chr10:5238864G>A	androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity							16.123378	KEEP	6	10	-1	66	65	6	10	-1	34.826389	66	65	0.116279	1	0	0	0	0	1	0	0	0	--	--		0	A				239	GBM-32-2615-TP	p.D12N	G	AGAGCTAAATGATGGTCACTT	NM_001818	NP_001809	5238864	P17516	AK1C4_HUMAN	0			1	67	+	A	A			Missense_Mutation	12						
AKR7A3	22977	broad.mit.edu	GRCh37	1	19615062	19615062	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-2562-01	TCGA-06-2562-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361640.4:c.142G>C	p.Val48Leu	p.V48L	ENST00000361640	NM_012067.2	48	Gtg/Ctg	0	G:0		1			G	V/L	uc001bbv.1	protein_coding	YES	CCDS193.1			142/996										0	c.(142-144)GTG>CTG			Gene3D:3.20.20.100,Pfam_domain:PF00248,hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF186,Superfamily_domains:SSF51430	aldo-keto reductase family 7, member A3			G:0.0003	ENSP00000355377		7-Jan	0.0064	0.00203	0.00251	0.00992	0.00327	0.00778	0.00971	0.0127	rs199504000,COSM1601453	7-Jan	common_variant		ENST00000361640	Transcript			cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity	ENSG00000162482	g.chr1:19615062C>G	390			MODERATE		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,19615062,C,G&fts=all	L48L	--	--	1																																			0,1	1		benign(0.002)	p.V48L	NM_012067	NP_036199		tolerated(0.24)	0,1	ARK73_HUMAN	AKR7A3	HGNC	O95154	ARK73_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)			1	219	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	UPI0000125D48	48					SNV	AKR7A3,missense_variant,p.Val48Leu,ENST00000361640,NM_012067.2;	uc001bbv.1	c.142G>C	683/1710	4	4			c.142G>C						1	SNP	c.(142-144)GTG>CTG	19	19				0	Broad	aldo-keto reductase family 7, member A3			19615062		0.711	ENSG00000162482	472	g.chr1:19615062C>G	cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity							5.312191	KEEP	3	1	-1	12	12	3	1	-1	8.848747	12	12	0.12	1	0	0	0	0	1	0	0	0	--	--		0	G				85	GBM-06-2562-TP	p.V48L	C	TCGCTGTACACGAAGGCCGTG	NM_012067	NP_036199	19615062	O95154	ARK73_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	219	-	G	G		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	48						
AKR7A3	0	broad.mit.edu	GRCh37	1	19611245	19611245	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-28-5209-01	TCGA-28-5209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361640.4:c.639delC	p.Asp213GlufsTer51	p.D213Efs*51	ENST00000361640	NM_012067.2	213	gaC/ga	0			1			-	D/X	uc001bbv.1	protein_coding	YES	CCDS193.1			639/996										0	c.(637-639)GACfs			Gene3D:3.20.20.100,Pfam_domain:PF00248,hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF186,Superfamily_domains:SSF51430	aldo-keto reductase family 7, member A3				ENSP00000355377		7-May										7-May	.		ENST00000361640	Transcript			cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity	ENSG00000162482	g.chr1:19611245delG	390			HIGH								--	--	1																																				1			p.D213fs	NM_012067	NP_036199				ARK73_HUMAN	AKR7A3	HGNC	O95154	ARK73_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)			5	716	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	UPI0000125D48	213					deletion	AKR7A3,frameshift_variant,p.Asp213GlufsTer51,ENST00000361640,NM_012067.2;	uc001bbv.1	c.639delC	1180/1710	5	5			c.639delC						1	DEL	c.(637-639)GACfs	53	53				0	Broad	aldo-keto reductase family 7, member A3			19611245		0.597	ENSG00000162482	472	g.chr1:19611245delG	cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity																				0.37	1	1	0	1	0	0	0	0	0	--	--		0	-				218	GBM-28-5209-TP	p.D213fs	G	TCCCATTCTTGTCCTCATACT	NM_012067	NP_036199	19611245	O95154	ARK73_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	5	716	-	-	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	Frame_Shift_Del	213						
AKT1	0	broad.mit.edu	GRCh37	14	105241276	105241276	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01	TCGA-14-0789-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000349310.3:c.632C>T	p.Thr211Ile	p.T211I	ENST00000349310	NM_001014432.1	211	aCa/aTa	0			1			A	T/I	uc001ypk.2	protein_coding		CCDS9994.1		1	632/1443	Mis				breast|colorectal|ovarian|NSCLC				breast(86)|urinary_tract(12)|thyroid(10)|lung(7)|endometrium(5)|large_intestine(4)|skin(4)|prostate(3)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	134	c.(631-633)ACA>ATA			PROSITE_profiles:PS50011,hmmpanther:PTHR24352,hmmpanther:PTHR24352:SF30,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	AKT1 kinase	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)			ENSP00000270202		15-Aug									COSM3401141	15-Aug	.		ENST00000349310	Transcript	1		activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	ENSG00000142208	g.chr14:105241276G>A	391			MODERATE		-0.75	neutral	getma.org/?cm=msa&ty=f&p=AKT1_HUMAN&rb=150&re=408&var=T211I	getma.org/pdb.php?prot=AKT1_HUMAN&from=150&to=408&var=T211I	getma.org/?cm=var&var=hg19,14,105241276,G,A&fts=all	T211I	--	--	1																																		INF2_uc010tyi.1_Intron|AKT1_uc001ypl.2_Missense_Mutation_p.T211I|AKT1_uc010axa.2_Missense_Mutation_p.T211I|AKT1_uc001ypm.2_Missense_Mutation_p.T211I|AKT1_uc001ypn.2_Missense_Mutation_p.T211I|AKT1_uc010tyk.1_Missense_Mutation_p.T149I	1			possibly_damaging(0.831)	p.T211I	NM_005163	NP_005154		tolerated(0.21)	1	AKT1_HUMAN	AKT1	HGNC	P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	B0LPE5_HUMAN,Q9BV07_HUMAN,G3V4I6_HUMAN,G3V3K5_HUMAN,B7Z5R1_HUMAN,B3KXD7_HUMAN		7	1186	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	UPI0000070813	211			Protein kinase.		SNV	AKT1,missense_variant,p.Thr211Ile,ENST00000554581,;AKT1,missense_variant,p.Thr211Ile,ENST00000402615,;AKT1,missense_variant,p.Thr211Ile,ENST00000555528,NM_005163.2;AKT1,missense_variant,p.Thr211Ile,ENST00000349310,NM_001014432.1;AKT1,missense_variant,p.Thr211Ile,ENST00000407796,NM_001014431.1;AKT1,missense_variant,p.Thr211Ile,ENST00000554848,;AKT1,missense_variant,p.Thr149Ile,ENST00000544168,;AKT1,upstream_gene_variant,,ENST00000554192,;AKT1,upstream_gene_variant,,ENST00000555458,;AKT1,downstream_gene_variant,,ENST00000555926,;AKT1,downstream_gene_variant,,ENST00000555380,;RP11-982M15.2,downstream_gene_variant,,ENST00000557223,;AKT1,upstream_gene_variant,,ENST00000554585,;AKT1,splice_region_variant,,ENST00000554826,;AKT1,non_coding_transcript_exon_variant,,ENST00000557552,;AKT1,non_coding_transcript_exon_variant,,ENST00000556836,;AKT1,upstream_gene_variant,,ENST00000553506,;	uc001ypk.2	c.632C>T	1063/2866	2	2		1	c.632C>T	Mis				breast|colorectal|ovarian|NSCLC	14	SNP	c.(631-633)ACA>ATA	42	42			breast(86)|urinary_tract(12)|thyroid(10)|lung(7)|endometrium(5)|large_intestine(4)|skin(4)|prostate(3)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	134	Broad	AKT1 kinase		Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	105241276		0.647	ENSG00000142208	474	g.chr14:105241276G>A	activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			998			998	76.539565	KEEP	18	19	-1	53	48	18	19	-1	82.78085	53	48	0.262295	1	0	0	0	0	1	0	0	0	--	--		0	A			INF2_uc010tyi.1_Intron|AKT1_uc001ypl.2_Missense_Mutation_p.T211I|AKT1_uc010axa.2_Missense_Mutation_p.T211I|AKT1_uc001ypm.2_Missense_Mutation_p.T211I|AKT1_uc001ypn.2_Missense_Mutation_p.T211I|AKT1_uc010tyk.1_Missense_Mutation_p.T149I	136	GBM-14-0789-TP	p.T211I	G	CCCACTCACTGTGAGGAAGGG	NM_005163	NP_005154	105241276	P31749	AKT1_HUMAN	0	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	7	1186	-	A	A		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	Missense_Mutation	211			Protein kinase.			
AKTIP	0	broad.mit.edu	GRCh37	16	53528141	53528141	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-14-0871-01	TCGA-14-0871-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394657.7:c.619C>T	p.Gln207Ter	p.Q207*	ENST00000394657	NM_022476.2	207	Cag/Tag	0			1			A	Q/*	uc002ehk.2	protein_coding	YES	CCDS10749.1			619/879										0	c.(619-621)CAG>TAG			Gene3D:3.10.110.10,Pfam_domain:PF00179,PROSITE_profiles:PS50127,hmmpanther:PTHR24067,hmmpanther:PTHR24067:SF41,SMART_domains:SM00212,Superfamily_domains:SSF54495	AKT interacting protein				ENSP00000378152		10-Aug									COSM3402363	10-Aug	.		ENST00000394657	Transcript			apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding	ENSG00000166971	g.chr16:53528141G>A	16710			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,16,53528141,G,A&fts=all	Q207*	--	--	1																																		AKTIP_uc002ehl.2_Nonsense_Mutation_p.Q207*|AKTIP_uc002ehm.2_Nonsense_Mutation_p.Q207*	1	1			p.Q207*	NM_001012398	NP_001012398			1	AKTIP_HUMAN	AKTIP	HGNC	Q9H8T0	AKTIP_HUMAN			Q659E0_HUMAN,H3BVH0_HUMAN,H3BSX7_HUMAN,H3BRV2_HUMAN,H3BNB8_HUMAN		8	830	-		all_cancers(37;0.14)	UPI0000073A64	207					SNV	AKTIP,stop_gained,p.Gln207Ter,ENST00000394657,NM_022476.2,NM_001012398.1;AKTIP,stop_gained,p.Gln207Ter,ENST00000300245,;AKTIP,stop_gained,p.Gln207Ter,ENST00000570004,;AKTIP,stop_gained,p.Gln246Ter,ENST00000568022,;RBL2,downstream_gene_variant,,ENST00000262133,NM_005611.3;RBL2,downstream_gene_variant,,ENST00000544545,;AKTIP,downstream_gene_variant,,ENST00000568596,;AKTIP,downstream_gene_variant,,ENST00000570041,;AKTIP,downstream_gene_variant,,ENST00000563928,;AKTIP,downstream_gene_variant,,ENST00000565408,;RBL2,downstream_gene_variant,,ENST00000379935,;AKTIP,upstream_gene_variant,,ENST00000571523,;AKTIP,upstream_gene_variant,,ENST00000565431,;AKTIP,downstream_gene_variant,,ENST00000563108,;AKTIP,downstream_gene_variant,,ENST00000561799,;AKTIP,downstream_gene_variant,,ENST00000566045,;	uc002ehk.2	c.619C>T	794/2426	5	2			c.619C>T						16	SNP	c.(619-621)CAG>TAG	24	24				0	Broad	AKT interacting protein			53528141		0.308	ENSG00000166971	478	g.chr16:53528141G>A	apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding							-10.848911	KEEP	5	1	-1	61	48	5	1	-1	12.43257	61	48	0.054054	1	0	0	0	0	0	1	0	0	--	--		0	A			AKTIP_uc002ehl.2_Nonsense_Mutation_p.Q207*|AKTIP_uc002ehm.2_Nonsense_Mutation_p.Q207*	141	GBM-14-0871-TP	p.Q207*	G	TTAAAAAGCTGAATATCTTTT	NM_001012398	NP_001012398	53528141	Q9H8T0	AKTIP_HUMAN	0			8	830	-	A	A		all_cancers(37;0.14)	Nonsense_Mutation	207						
AL121963.1			GRCh37	6	116442879	116442879	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000430695.1:c.260G>A	p.Arg87Lys	p.R87K	ENST00000430695		87	aGg/aAg	0																																																																																																																																																																																																																																												
ALAS1	211		GRCh37	3	52242221	52242221	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000394965.2:c.1288G>A	p.Asp430Asn	p.D430N	ENST00000394965	NM_000688.5	430	Gat/Aat	0																																																																																																																																																																																																																																												
ALB	213	broad.mit.edu	GRCh37	4	74283995	74283995	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0749-01	TCGA-06-0749-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295897.4:c.1619T>A	p.Leu540His	p.L540H	ENST00000295897	NM_000477.5	540	cTt/cAt	0			1			A	L/H	uc003hgs.3	protein_coding	YES	CCDS3555.1			1619/1830									ovary(3)|skin(3)	6	c.(1618-1620)CTT>CAT			PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Gene3D:1.10.246.10,Pfam_domain:PF00273,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552	albumin preproprotein	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)			ENSP00000295897		15-Dec									COSM3409470	15-Dec	.		ENST00000295897	Transcript	1		bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	ENSG00000163631	g.chr4:74283995T>A	399			MODERATE		2.635	medium	getma.org/?cm=msa&ty=f&p=ALBU_HUMAN&rb=412&re=592&var=L540H	getma.org/pdb.php?prot=ALBU_HUMAN&from=412&to=592&var=L540H	getma.org/?cm=var&var=hg19,4,74283995,T,A&fts=all	L540H	--	--	1																																		ALB_uc003hgw.3_Missense_Mutation_p.L348H|ALB_uc011cbe.1_Missense_Mutation_p.L219H|ALB_uc003hgt.3_Missense_Mutation_p.L540H|ALB_uc010iii.2_Missense_Mutation_p.L425H|ALB_uc003hgu.3_Missense_Mutation_p.L390H|ALB_uc003hgv.3_Missense_Mutation_p.L219H|ALB_uc011cbf.1_Missense_Mutation_p.L430H|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_Missense_Mutation_p.L219H	1	1		possibly_damaging(0.731)	p.L540H	NM_000477	NP_000468		tolerated(0.26)	1	ALBU_HUMAN	ALB	HGNC	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)				12	1692	+	Breast(15;0.00102)		UPI000002C1AC	540			Albumin 3.		SNV	ALB,missense_variant,p.Leu540His,ENST00000295897,NM_000477.5;ALB,missense_variant,p.Leu540His,ENST00000509063,;ALB,missense_variant,p.Leu390His,ENST00000503124,;ALB,missense_variant,p.Leu425His,ENST00000401494,;ALB,missense_variant,p.Leu385His,ENST00000511370,;ALB,missense_variant,p.Leu348His,ENST00000415165,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,upstream_gene_variant,,ENST00000495173,;ALB,3_prime_UTR_variant,,ENST00000476441,;ALB,non_coding_transcript_exon_variant,,ENST00000486939,;ALB,downstream_gene_variant,,ENST00000484992,;ALB,downstream_gene_variant,,ENST00000504043,;ALB,upstream_gene_variant,,ENST00000508932,;	uc003hgs.3	c.1619T>A	1708/2263	1	1			c.1619T>A						4	SNP	c.(1618-1620)CTT>CAT	62	62			ovary(3)|skin(3)	6	Broad	albumin preproprotein		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	74283995		0.403	ENSG00000163631	482	g.chr4:74283995T>A	bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding							-18.693567	KEEP	2	2	-1	60	53	2	2	-1	7.239082	60	53	0.036036	1	0	0	0	0	1	0	0	0	--	--		0	A			ALB_uc003hgw.3_Missense_Mutation_p.L348H|ALB_uc011cbe.1_Missense_Mutation_p.L219H|ALB_uc003hgt.3_Missense_Mutation_p.L540H|ALB_uc010iii.2_Missense_Mutation_p.L425H|ALB_uc003hgu.3_Missense_Mutation_p.L390H|ALB_uc003hgv.3_Missense_Mutation_p.L219H|ALB_uc011cbf.1_Missense_Mutation_p.L430H|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_Missense_Mutation_p.L219H	69	GBM-06-0749-TP	p.L540H	T	ATATGCACACTTTCTGAGAAG	NM_000477	NP_000468	74283995	P02768	ALBU_HUMAN	0	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		12	1692	+	A	A	Breast(15;0.00102)		Missense_Mutation	540			Albumin 3.			
ALB	213	broad.mit.edu	GRCh37	4	74283255	74283255	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs141626688		TCGA-06-2561-01	TCGA-06-2561-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295897.4:c.1297G>T	p.Val433Phe	p.V433F	ENST00000295897	NM_000477.5	433	Gtt/Ttt	0			1			T	V/F	uc003hgs.3	protein_coding	YES	CCDS3555.1			1297/1830									ovary(3)|skin(3)	6	c.(1297-1299)GTT>TTT			PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Gene3D:1.10.246.10,Pfam_domain:PF00273,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552	albumin preproprotein	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)			ENSP00000295897		15-Nov									COSM3409469	15-Nov	.		ENST00000295897	Transcript	1		bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	ENSG00000163631	g.chr4:74283255G>T	399			MODERATE		2.38	medium	getma.org/?cm=msa&ty=f&p=ALBU_HUMAN&rb=412&re=592&var=V433F	getma.org/pdb.php?prot=ALBU_HUMAN&from=412&to=592&var=V433F	getma.org/?cm=var&var=hg19,4,74283255,G,T&fts=all	V433F	--	--	1																																		ALB_uc003hgw.3_Missense_Mutation_p.V241F|ALB_uc011cbe.1_Missense_Mutation_p.V112F|ALB_uc003hgt.3_Missense_Mutation_p.V433F|ALB_uc010iii.2_Missense_Mutation_p.V318F|ALB_uc003hgu.3_Missense_Mutation_p.V283F|ALB_uc003hgv.3_Missense_Mutation_p.V112F|ALB_uc011cbf.1_Missense_Mutation_p.V323F|ALB_uc010iij.2_Intron|ALB_uc003hgx.3_Missense_Mutation_p.V112F	1	1		possibly_damaging(0.811)	p.V433F	NM_000477	NP_000468		tolerated(0.05)	1	ALBU_HUMAN	ALB	HGNC	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)				11	1370	+	Breast(15;0.00102)		UPI000002C1AC	433			Albumin 3.		SNV	ALB,missense_variant,p.Val433Phe,ENST00000295897,NM_000477.5;ALB,missense_variant,p.Val433Phe,ENST00000509063,;ALB,missense_variant,p.Val283Phe,ENST00000503124,;ALB,missense_variant,p.Val318Phe,ENST00000401494,;ALB,missense_variant,p.Val278Phe,ENST00000511370,;ALB,missense_variant,p.Val241Phe,ENST00000415165,;ALB,intron_variant,,ENST00000505649,;ALB,upstream_gene_variant,,ENST00000495173,;ALB,3_prime_UTR_variant,,ENST00000476441,;ALB,non_coding_transcript_exon_variant,,ENST00000484992,;ALB,downstream_gene_variant,,ENST00000504043,;ALB,upstream_gene_variant,,ENST00000508932,;ALB,upstream_gene_variant,,ENST00000486939,;	uc003hgs.3	c.1297G>T	1386/2263	2	2			c.1297G>T						4	SNP	c.(1297-1299)GTT>TTT	20	20			ovary(3)|skin(3)	6	Broad	albumin preproprotein		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	74283255		0.398	ENSG00000163631	482	g.chr4:74283255G>T	bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding							-17.437857	KEEP	3	2	0.6	61	64	3	2	0.6	10.228659	61	64	0.040984	1	0	0	0	0	1	0	0	0	--	--		0	T			ALB_uc003hgw.3_Missense_Mutation_p.V241F|ALB_uc011cbe.1_Missense_Mutation_p.V112F|ALB_uc003hgt.3_Missense_Mutation_p.V433F|ALB_uc010iii.2_Missense_Mutation_p.V318F|ALB_uc003hgu.3_Missense_Mutation_p.V283F|ALB_uc003hgv.3_Missense_Mutation_p.V112F|ALB_uc011cbf.1_Missense_Mutation_p.V323F|ALB_uc010iij.2_Intron|ALB_uc003hgx.3_Missense_Mutation_p.V112F	84	GBM-06-2561-TP	p.V433F	G	CAGGCTATTAGTTCGTTACAC	NM_000477	NP_000468	74283255	P02768	ALBU_HUMAN	0	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		11	1370	+	T	T	Breast(15;0.00102)		Missense_Mutation	433			Albumin 3.			
ALB	0	broad.mit.edu	GRCh37	4	74279142	74279142	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-41-3393-01	TCGA-41-3393-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295897.4:c.849C>G	p.Asp283Glu	p.D283E	ENST00000295897	NM_000477.5	283	gaC/gaG	0			1			G	D/E	uc003hgs.3	protein_coding	YES	CCDS3555.1			849/1830									ovary(3)|skin(3)	6	c.(847-849)GAC>GAG			PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Pfam_domain:PF00273,Gene3D:1.10.246.10,SMART_domains:SM00103,PIRSF_domain:PIRSF002520,Superfamily_domains:SSF48552	albumin preproprotein	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)			ENSP00000295897		15-Aug									COSM3748276	15-Aug	.		ENST00000295897	Transcript	1		bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	ENSG00000163631	g.chr4:74279142C>G	399			MODERATE		-0.19	neutral	getma.org/?cm=msa&ty=f&p=ALBU_HUMAN&rb=220&re=394&var=D283E	getma.org/pdb.php?prot=ALBU_HUMAN&from=220&to=394&var=D283E	getma.org/?cm=var&var=hg19,4,74279142,C,G&fts=all	D283E	--	--	1																																		ALB_uc003hgw.3_Missense_Mutation_p.D91E|ALB_uc011cbe.1_5'UTR|ALB_uc003hgt.3_Missense_Mutation_p.D283E|ALB_uc010iii.2_Missense_Mutation_p.D168E|ALB_uc003hgu.3_Missense_Mutation_p.D133E|ALB_uc003hgv.3_5'UTR|ALB_uc011cbf.1_Missense_Mutation_p.D173E|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_5'UTR	1	1		benign(0.001)	p.D283E	NM_000477	NP_000468		tolerated(1)	1	ALBU_HUMAN	ALB	HGNC	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)				8	922	+	Breast(15;0.00102)		UPI000002C1AC	283			Albumin 2.		SNV	ALB,missense_variant,p.Asp283Glu,ENST00000295897,NM_000477.5;ALB,missense_variant,p.Asp283Glu,ENST00000509063,;ALB,missense_variant,p.Asp133Glu,ENST00000503124,;ALB,missense_variant,p.Asp168Glu,ENST00000401494,;ALB,missense_variant,p.Asp128Glu,ENST00000511370,;ALB,missense_variant,p.Asp91Glu,ENST00000415165,;ALB,downstream_gene_variant,,ENST00000441319,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,downstream_gene_variant,,ENST00000514786,;ALB,downstream_gene_variant,,ENST00000510166,;ALB,3_prime_UTR_variant,,ENST00000476441,;ALB,non_coding_transcript_exon_variant,,ENST00000484992,;ALB,downstream_gene_variant,,ENST00000515133,;ALB,upstream_gene_variant,,ENST00000504043,;ALB,upstream_gene_variant,,ENST00000486939,;ALB,downstream_gene_variant,,ENST00000507673,;	uc003hgs.3	c.849C>G	938/2263	3	3			c.849C>G						4	SNP	c.(847-849)GAC>GAG	1	1			ovary(3)|skin(3)	6	Broad	albumin preproprotein		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	74279142		0.393	ENSG00000163631	482	g.chr4:74279142C>G	bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding							104.832094	KEEP	14	22	-1	49	47	14	22	-1	109.821025	49	47	0.282051	1	0	0	0	0	1	0	0	0	--	--		0	G			ALB_uc003hgw.3_Missense_Mutation_p.D91E|ALB_uc011cbe.1_5'UTR|ALB_uc003hgt.3_Missense_Mutation_p.D283E|ALB_uc010iii.2_Missense_Mutation_p.D168E|ALB_uc003hgu.3_Missense_Mutation_p.D133E|ALB_uc003hgv.3_5'UTR|ALB_uc011cbf.1_Missense_Mutation_p.D173E|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_5'UTR	255	GBM-41-3393-TP	p.D283E	C	TATAGGCGGACCTTGCCAAGT	NM_000477	NP_000468	74279142	P02768	ALBU_HUMAN	0	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		8	922	+	G	G	Breast(15;0.00102)		Missense_Mutation	283			Albumin 2.			
ALB	213		GRCh37	4	74274453	74274453	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0151-01	TCGA-06-0151-01																				ENST00000295897.4:c.413G>A	p.Arg138Gln	p.R138Q	ENST00000295897	NM_000477.5	138	cGa/cAa	0																																																																																																																																																																																																																																												
ALCAM	0	broad.mit.edu	GRCh37	3	105238918	105238918	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-19-5954-01	TCGA-19-5954-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306107.5:c.81A>T	p.Gly27=	p.G27=	ENST00000306107	NM_001627.3	27	ggA/ggT	0			1			T	G	uc003dvx.2	protein_coding	YES	CCDS33810.1			81/1752									ovary(2)|breast(1)	3	c.(79-81)GGA>GGT			hmmpanther:PTHR11973,hmmpanther:PTHR11973:SF2,Cleavage_site_(Signalp):SignalP-noTM,SMART_domains:SM00409	activated leukocyte cell adhesion molecule				ENSP00000305988		16-Feb									COSM2156728	16-Feb	.		ENST00000306107	Transcript			cell adhesion|signal transduction	integral to membrane	receptor binding	ENSG00000170017	g.chr3:105238918A>T	400			LOW								--	--	1																																		ALCAM_uc003dvv.2_Silent_p.G27G|ALCAM_uc003dvw.1_Silent_p.G27G|ALCAM_uc003dvy.2_Silent_p.G27G|ALCAM_uc011bhh.1_5'UTR	1	1			p.G27G	NM_001627	NP_001618			1	CD166_HUMAN	ALCAM	HGNC	Q13740	CD166_HUMAN			F5GXJ9_HUMAN		2	621	+			UPI0000209ECA	27					SNV	ALCAM,synonymous_variant,p.=,ENST00000306107,NM_001627.3;ALCAM,synonymous_variant,p.=,ENST00000472644,NM_001243280.1;ALCAM,5_prime_UTR_variant,,ENST00000486979,;ALCAM,non_coding_transcript_exon_variant,,ENST00000481337,;ALCAM,non_coding_transcript_exon_variant,,ENST00000470756,;	uc003dvx.2	c.81A>T	581/4701	1	1			c.81A>T						3	SNP	c.(79-81)GGA>GGT	14	14			ovary(2)|breast(1)	3	Broad	activated leukocyte cell adhesion molecule			105238918		0.294	ENSG00000170017	483	g.chr3:105238918A>T	cell adhesion|signal transduction	integral to membrane	receptor binding							95.401956	KEEP	12	22	-1	17	25	12	22	-1	95.414714	17	25	0.484848	1	0	0	0	0	0	0	1	0	--	--		0	T			ALCAM_uc003dvv.2_Silent_p.G27G|ALCAM_uc003dvw.1_Silent_p.G27G|ALCAM_uc003dvy.2_Silent_p.G27G|ALCAM_uc011bhh.1_5'UTR	174	GBM-19-5954-TP	p.G27G	A	AAGGCCTTGGATGGTATACTG	NM_001627	NP_001618	105238918	Q13740	CD166_HUMAN	0			2	621	+	T	T			Silent	27						
ALDH18A1	0	broad.mit.edu	GRCh37	10	97396856	97396856	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-19-2624-01	TCGA-19-2624-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371224.2:c.552T>A	p.Ala184=	p.A184=	ENST00000371224	NM_002860.3	184	gcT/gcA	0			1			T	A	uc001kkz.2	protein_coding	YES	CCDS7443.1			552/2388									pancreas(1)|central_nervous_system(1)|skin(1)	3	c.(550-552)GCT>GCA			Gene3D:3.40.1160.10,Pfam_domain:PF00696,PIRSF_domain:PIRSF036429,Prints_domain:PR00474,hmmpanther:PTHR11063,hmmpanther:PTHR11063:SF8,Superfamily_domains:SSF53633,TIGRFAM_domain:TIGR01092	pyrroline-5-carboxylate synthetase isoform 1	L-Glutamic Acid(DB00142)			ENSP00000360268		18-May									COSM2156192	18-May	.		ENST00000371224	Transcript	1		proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity	ENSG00000059573	g.chr10:97396856A>T	9722			LOW								--	--	1																																		ALDH18A1_uc001kky.2_Silent_p.A184A|ALDH18A1_uc010qog.1_Silent_p.A73A|ALDH18A1_uc010qoh.1_Intron	1	1			p.A184A	NM_002860	NP_002851			1	P5CS_HUMAN	ALDH18A1	HGNC	P54886	P5CS_HUMAN		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)			5	794	-		Colorectal(252;0.0402)	UPI0000131056	184			Glutamate 5-kinase.		SNV	ALDH18A1,synonymous_variant,p.=,ENST00000371224,NM_002860.3;ALDH18A1,synonymous_variant,p.=,ENST00000371221,NM_001017423.1;ALDH18A1,non_coding_transcript_exon_variant,,ENST00000483788,;	uc001kkz.2	c.552T>A	690/3349	2	2			c.552T>A						10	SNP	c.(550-552)GCT>GCA	40	40			pancreas(1)|central_nervous_system(1)|skin(1)	3	Broad	pyrroline-5-carboxylate synthetase isoform 1		L-Glutamic Acid(DB00142)	97396856		0.458	ENSG00000059573	485	g.chr10:97396856A>T	proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity							132.496602	KEEP	14	24	-1	6	8	14	24	-1	135.400111	6	8	0.755102	1	0	0	0	0	0	0	1	0	--	--		0	T			ALDH18A1_uc001kky.2_Silent_p.A184A|ALDH18A1_uc010qog.1_Silent_p.A73A|ALDH18A1_uc010qoh.1_Intron	164	GBM-19-2624-TP	p.A184A	A	TCACCTGGGCAGCACAGATGC	NM_002860	NP_002851	97396856	P54886	P5CS_HUMAN	0		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	5	794	-	T	T		Colorectal(252;0.0402)	Silent	184			Glutamate 5-kinase.			
ALDH1A1	0	broad.mit.edu	GRCh37	9	75567900	75567900	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs144704960		TCGA-14-0789-01	TCGA-14-0789-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297785.3:c.17C>T	p.Thr6Met	p.T6M	ENST00000297785	NM_000689.4	6	aCg/aTg	0	A:0.0009	A:0.0015	1	A:0		A	T/M	uc004ajd.2	protein_coding	YES	CCDS6644.1			17/1506									ovary(3)|lung(1)	4	c.(16-18)ACG>ATG				aldehyde dehydrogenase 1A1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	A:0	A:0	ENSP00000297785	A:0	13-Jan	0.000107	0.000769				7.51E-05			rs144704960,COSM3413722,COSM3413723	13-Jan	common_variant		ENST00000297785	Transcript		A:0.0004	cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity	ENSG00000165092	g.chr9:75567900G>A	402			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=AL1A1_HUMAN&rb=1&re=58&var=T6M	NA	getma.org/?cm=var&var=hg19,9,75567900,G,A&fts=all	T6M	--	--	1																																		ALDH1A1_uc011lsh.1_Intron	0,1,1	1		benign(0.001)	p.T6M	NM_000689	NP_000680	A:0	tolerated_low_confidence(0.46)	0,1,1	AL1A1_HUMAN	ALDH1A1	HGNC	P00352	AL1A1_HUMAN			Q5SYQ8_HUMAN,Q5SYQ7_HUMAN,B4DDF8_HUMAN		1	70	-			UPI0000000DC0	6					SNV	ALDH1A1,missense_variant,p.Thr6Met,ENST00000297785,NM_000689.4;ALDH1A1,missense_variant,p.Thr6Met,ENST00000376939,;ALDH1A1,missense_variant,p.Thr6Met,ENST00000419959,;ALDH1A1,missense_variant,p.Thr6Met,ENST00000446946,;ALDH1A1,upstream_gene_variant,,ENST00000482210,;ALDH1A1,upstream_gene_variant,,ENST00000493113,;	uc004ajd.2	c.17C>T	72/2107	2	2			c.17C>T						9	SNP	c.(16-18)ACG>ATG	24	24			ovary(3)|lung(1)	4	Broad	aldehyde dehydrogenase 1A1		NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	75567900		0.418	ENSG00000165092	486	g.chr9:75567900G>A	cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity							59.256414	KEEP	16	12	-1	48	39	16	12	-1	65.241931	48	39	0.242424	1	0	0	0	0	1	0	0	0	--	--		0	A			ALDH1A1_uc011lsh.1_Intron	136	GBM-14-0789-TP	p.T6M	G	TAAGTCTGGCGTGCCTGAGGA	NM_000689	NP_000680	75567900	P00352	AL1A1_HUMAN	0			1	70	-	A	A			Missense_Mutation	6						
ALDH1A2	8854	broad.mit.edu	GRCh37	15	58253017	58253017	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-0055-01	TCGA-02-0055-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000249750.4:c.1435G>A	p.Ala479Thr	p.A479T	ENST00000249750	NM_003888.3	479	Gcc/Acc	0			1			T	A/T	uc002aex.2	protein_coding	YES	CCDS10163.1			1435/1557									central_nervous_system(1)	1	c.(1435-1437)GCC>ACC			hmmpanther:PTHR11699:SF102,hmmpanther:PTHR11699,Pfam_domain:PF00171,Gene3D:3.40.309.10,Superfamily_domains:SSF53720	aldehyde dehydrogenase 1A2 isoform 1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)			ENSP00000249750		13-Dec									COSM3401846	13-Dec	.		ENST00000249750	Transcript			negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	ENSG00000128918	g.chr15:58253017C>T	15472			MODERATE		1.74	low	getma.org/?cm=msa&ty=f&p=AL1A2_HUMAN&rb=46&re=509&var=A479T	getma.org/pdb.php?prot=AL1A2_HUMAN&from=46&to=509&var=A479T	getma.org/?cm=var&var=hg19,15,58253017,C,T&fts=all	A479T	--	--	1																																		ALDH1A2_uc002aey.2_Missense_Mutation_p.A441T|ALDH1A2_uc010ugv.1_Missense_Mutation_p.A458T|ALDH1A2_uc010ugw.1_Missense_Mutation_p.A450T|ALDH1A2_uc002aew.2_Missense_Mutation_p.A383T	1	1		benign(0.004)	p.A479T	NM_003888	NP_003879		tolerated(0.1)	1	AL1A2_HUMAN	ALDH1A2	HGNC	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Q9UED3_HUMAN,H0YKL3_HUMAN		12	1493	-			UPI00001678B4	479					SNV	ALDH1A2,missense_variant,p.Ala479Thr,ENST00000249750,NM_003888.3;ALDH1A2,missense_variant,p.Ala441Thr,ENST00000347587,NM_170696.2;ALDH1A2,missense_variant,p.Ala458Thr,ENST00000537372,NM_001206897.1;ALDH1A2,missense_variant,p.Ala450Thr,ENST00000558231,;ALDH1A2,missense_variant,p.Ala383Thr,ENST00000559517,NM_170697.2;ALDH1A2,3_prime_UTR_variant,,ENST00000430119,;ALDH1A2,non_coding_transcript_exon_variant,,ENST00000560312,;	uc002aex.2	c.1435G>A	2203/4098	2	2			c.1435G>A						15	SNP	c.(1435-1437)GCC>ACC	33	33			central_nervous_system(1)	1	Broad	aldehyde dehydrogenase 1A2 isoform 1		NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	58253017		0.408	ENSG00000128918	487	g.chr15:58253017C>T	negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity							44.075293	KEEP	11	13	-1	57	51	11	13	-1	54.530807	57	51	0.189655	1	0	0	0	0	1	0	0	0	--	--		0	T			ALDH1A2_uc002aey.2_Missense_Mutation_p.A441T|ALDH1A2_uc010ugv.1_Missense_Mutation_p.A458T|ALDH1A2_uc010ugw.1_Missense_Mutation_p.A450T|ALDH1A2_uc002aew.2_Missense_Mutation_p.A383T	4	GBM-02-0055-TP	p.A479T	C	GGGCTCTGGGCATTTAAGGCA	NM_003888	NP_003879	58253017	O94788	AL1A2_HUMAN	0		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	12	1493	-	T	T			Missense_Mutation	479						
ALDH1A2	0	broad.mit.edu	GRCh37	15	58256142	58256142	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs137957671		TCGA-19-2629-01	TCGA-19-2629-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000249750.4:c.1027C>T	p.Arg343Trp	p.R343W	ENST00000249750	NM_003888.3	343	Cgg/Tgg	0	A:0		1			A	R/W	uc002aex.2	protein_coding	YES	CCDS10163.1			1027/1557									central_nervous_system(1)	1	c.(1027-1029)CGG>TGG			hmmpanther:PTHR11699:SF102,hmmpanther:PTHR11699,Pfam_domain:PF00171,Gene3D:3.40.309.10,Superfamily_domains:SSF53720	aldehyde dehydrogenase 1A2 isoform 1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)		A:0.0001	ENSP00000249750		13-Sep	1.65E-05		8.64E-05			1.50E-05			rs137957671,COSM2156341	13-Sep	.		ENST00000249750	Transcript			negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	ENSG00000128918	g.chr15:58256142G>A	15472			MODERATE		2.91	medium	getma.org/?cm=msa&ty=f&p=AL1A2_HUMAN&rb=46&re=509&var=R343W	getma.org/pdb.php?prot=AL1A2_HUMAN&from=46&to=509&var=R343W	getma.org/?cm=var&var=hg19,15,58256142,G,A&fts=all	R343W	--	--	1																																		ALDH1A2_uc002aey.2_Missense_Mutation_p.R305W|ALDH1A2_uc010ugv.1_Missense_Mutation_p.R322W|ALDH1A2_uc010ugw.1_Missense_Mutation_p.R314W|ALDH1A2_uc002aew.2_Missense_Mutation_p.R247W	0,1	1		probably_damaging(0.945)	p.R343W	NM_003888	NP_003879		deleterious(0.01)	0,1	AL1A2_HUMAN	ALDH1A2	HGNC	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Q9UED3_HUMAN,H0YKL3_HUMAN		9	1085	-			UPI00001678B4	343					SNV	ALDH1A2,missense_variant,p.Arg343Trp,ENST00000249750,NM_003888.3;ALDH1A2,missense_variant,p.Arg305Trp,ENST00000347587,NM_170696.2;ALDH1A2,missense_variant,p.Arg322Trp,ENST00000537372,NM_001206897.1;ALDH1A2,missense_variant,p.Arg314Trp,ENST00000558231,;ALDH1A2,missense_variant,p.Arg247Trp,ENST00000559517,NM_170697.2;ALDH1A2,3_prime_UTR_variant,,ENST00000430119,;ALDH1A2,non_coding_transcript_exon_variant,,ENST00000560312,;	uc002aex.2	c.1027C>T	1795/4098	1	1			c.1027C>T						15	SNP	c.(1027-1029)CGG>TGG	52	52			central_nervous_system(1)	1	Broad	aldehyde dehydrogenase 1A2 isoform 1		NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	58256142		0.527	ENSG00000128918	487	g.chr15:58256142G>A	negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity							75.518048	KEEP	14	16	-1	44	46	14	16	-1	80.468618	44	46	0.275229	1	0	0	0	0	1	0	0	0	--	--		0	A			ALDH1A2_uc002aey.2_Missense_Mutation_p.R305W|ALDH1A2_uc010ugv.1_Missense_Mutation_p.R322W|ALDH1A2_uc010ugw.1_Missense_Mutation_p.R314W|ALDH1A2_uc002aew.2_Missense_Mutation_p.R247W	166	GBM-19-2629-TP	p.R343W	G	CTCTTGGCCCGCTCCACGCTT	NM_003888	NP_003879	58256142	O94788	AL1A2_HUMAN	0		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	9	1085	-	A	A			Missense_Mutation	343						
ALDH1A2	0	broad.mit.edu	GRCh37	15	58306465	58306465	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5954-01	TCGA-19-5954-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000249750.4:c.132C>T	p.Asn44=	p.N44=	ENST00000249750	NM_003888.3	44	aaC/aaT	0	A:0.0002		1			A	N	uc002aex.2	protein_coding	YES	CCDS10163.1			132/1557									central_nervous_system(1)	1	c.(130-132)AAC>AAT			hmmpanther:PTHR11699:SF102,hmmpanther:PTHR11699,Gene3D:3.40.605.10,Superfamily_domains:SSF53720	aldehyde dehydrogenase 1A2 isoform 1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)		A:0	ENSP00000249750		13-Feb	4.94E-05	9.62E-05						0.000303	rs374228229,COSM2156744	13-Feb	.		ENST00000249750	Transcript			negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	ENSG00000128918	g.chr15:58306465G>A	15472			LOW								--	--	1																																		ALDH1A2_uc002aey.2_Silent_p.N44N|ALDH1A2_uc010ugv.1_Silent_p.N23N|ALDH1A2_uc010ugw.1_Silent_p.N15N|ALDH1A2_uc002aew.2_5'Flank	0,1	1			p.N44N	NM_003888	NP_003879			0,1	AL1A2_HUMAN	ALDH1A2	HGNC	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Q9UED3_HUMAN,H0YKL3_HUMAN		2	190	-			UPI00001678B4	44					SNV	ALDH1A2,synonymous_variant,p.=,ENST00000249750,NM_003888.3;ALDH1A2,synonymous_variant,p.=,ENST00000347587,NM_170696.2;ALDH1A2,synonymous_variant,p.=,ENST00000537372,NM_001206897.1;ALDH1A2,synonymous_variant,p.=,ENST00000558231,;ALDH1A2,5_prime_UTR_variant,,ENST00000558239,;ALDH1A2,5_prime_UTR_variant,,ENST00000557967,;ALDH1A2,5_prime_UTR_variant,,ENST00000561070,;ALDH1A2,upstream_gene_variant,,ENST00000559517,NM_170697.2;ALDH1A2,non_coding_transcript_exon_variant,,ENST00000558073,;ALDH1A2,non_coding_transcript_exon_variant,,ENST00000560122,;ALDH1A2,non_coding_transcript_exon_variant,,ENST00000559266,;ALDH1A2,non_coding_transcript_exon_variant,,ENST00000559297,;ALDH1A2,non_coding_transcript_exon_variant,,ENST00000558595,;ALDH1A2,3_prime_UTR_variant,,ENST00000430119,;	uc002aex.2	c.132C>T	900/4098	2	2			c.132C>T						15	SNP	c.(130-132)AAC>AAT	28	28			central_nervous_system(1)	1	Broad	aldehyde dehydrogenase 1A2 isoform 1		NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	58306465		0.453	ENSG00000128918	487	g.chr15:58306465G>A	negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity							82.850961	KEEP	14	22	-1	27	30	14	22	-1	84.399141	27	30	0.353659	1	0	0	0	0	0	0	1	0	--	--		0	A			ALDH1A2_uc002aey.2_Silent_p.N44N|ALDH1A2_uc010ugv.1_Silent_p.N23N|ALDH1A2_uc010ugw.1_Silent_p.N15N|ALDH1A2_uc002aew.2_5'Flank	174	GBM-19-5954-TP	p.N44N	G	TCTGCCACTCGTTGTTTATAA	NM_003888	NP_003879	58306465	O94788	AL1A2_HUMAN	0		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	2	190	-	A	A			Silent	44						
ALDH1A3	220		GRCh37	15	101432805	101432805	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000329841.5:c.436G>T	p.Gly146Trp	p.G146W	ENST00000329841	NM_000693.2	146	Ggg/Tgg	0																																																																																																																																																																																																																																												
ALDH1L2	160428	broad.mit.edu	GRCh37	12	105455479	105455479	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0645-01	TCGA-06-0645-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258494.9:c.973C>A	p.Gln325Lys	p.Q325K	ENST00000258494	NM_001034173.3	325	Cag/Aag	0			1			T	Q/K	uc001tlc.2	protein_coding	YES	CCDS31891.1			973/2772									skin(1)	1	c.(973-975)CAG>AAG			Pfam_domain:PF02911,Gene3D:3.10.25.10,PIRSF_domain:PIRSF036489,Superfamily_domains:SSF50486	aldehyde dehydrogenase 1 family, member L2				ENSP00000258494		23-Aug									COSM2151271	23-Aug	.		ENST00000258494	Transcript			10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	ENSG00000136010	g.chr12:105455479G>T	26777			MODERATE		-0.465	neutral	getma.org/?cm=msa&ty=f&p=AL1L2_HUMAN&rb=226&re=330&var=Q325K	getma.org/pdb.php?prot=AL1L2_HUMAN&from=226&to=330&var=Q325K	getma.org/?cm=var&var=hg19,12,105455479,G,T&fts=all	Q325K	--	--	1																																		ALDH1L2_uc009zuo.2_5'UTR|ALDH1L2_uc009zup.2_RNA	1	1		benign(0.001)	p.Q325K	NM_001034173	NP_001029345		tolerated_low_confidence(1)	1	AL1L2_HUMAN	ALDH1L2	HGNC	Q3SY69	AL1L2_HUMAN					8	1100	-			UPI00000477A9	325					SNV	ALDH1L2,missense_variant,p.Gln325Lys,ENST00000258494,NM_001034173.3;ALDH1L2,missense_variant,p.Gln325Lys,ENST00000424857,;ALDH1L2,3_prime_UTR_variant,,ENST00000552270,;ALDH1L2,non_coding_transcript_exon_variant,,ENST00000549335,;	uc001tlc.2	c.973C>A	1114/7547	1	1			c.973C>A						12	SNP	c.(973-975)CAG>AAG	13	13			skin(1)	1	Broad	aldehyde dehydrogenase 1 family, member L2			105455479		0.408	ENSG00000136010	491	g.chr12:105455479G>T	10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding							83.150061	KEEP	22	17	0.564102564	46	40	22	17	0.564102564	87.461905	46	40	0.290909	1	0	0	0	0	1	0	0	0	--	--		0	T			ALDH1L2_uc009zuo.2_5'UTR|ALDH1L2_uc009zup.2_RNA	59	GBM-06-0645-TP	p.Q325K	G	GAAAAGTACTGAGAGGCAGGG	NM_001034173	NP_001029345	105455479	Q3SY69	AL1L2_HUMAN	0			8	1100	-	T	T			Missense_Mutation	325						
ALDH3A1	0	broad.mit.edu	GRCh37	17	19641725	19641725	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs113168621		TCGA-19-2619-01	TCGA-19-2619-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000225740.6:c.1258G>A	p.Glu420Lys	p.E420K	ENST00000225740	NM_000691.4	420	Gag/Aag	0			1			T	E/K	uc010cqu.2	protein_coding		CCDS11212.1			1258/1362									ovary(1)|pancreas(1)	2	c.(1258-1260)GAG>AAG			hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF105,Pfam_domain:PF00171,PIRSF_domain:PIRSF036492,Superfamily_domains:SSF53720	aldehyde dehydrogenase 3A1	NADH(DB00157)			ENSP00000225740		11-Oct	8.24E-06					1.51E-05			rs113168621,COSM2156134	11-Oct	.		ENST00000225740	Transcript			cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase	ENSG00000108602	g.chr17:19641725C>T	405			MODERATE		0.34	neutral	getma.org/?cm=msa&ty=f&p=AL3A1_HUMAN&rb=1&re=428&var=E420K	getma.org/pdb.php?prot=AL3A1_HUMAN&from=1&to=428&var=E420K	getma.org/?cm=var&var=hg19,17,19641725,C,T&fts=all	E420K	--	--	1																																		ALDH3A1_uc010vzd.1_Missense_Mutation_p.E420K|ALDH3A1_uc002gwj.2_Missense_Mutation_p.E420K|ALDH3A1_uc010cqv.2_Missense_Mutation_p.E419K|ALDH3A1_uc002gwk.2_Missense_Mutation_p.E537K|ALDH3A1_uc002gwl.1_Missense_Mutation_p.E347K	0,1			benign(0.06)	p.E420K	NM_001135168	NP_001128640		deleterious(0.03)	1,1	AL3A1_HUMAN	ALDH3A1	HGNC	P30838	AL3A1_HUMAN		Colorectal(15;0.0829)	I3L4E5_HUMAN,I3L3W9_HUMAN,I3L3I9_HUMAN,I3L1H6_HUMAN,C9JMC5_HUMAN		9	1588	-	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)		UPI000013C87C	420					SNV	ALDH3A1,missense_variant,p.Glu420Lys,ENST00000457500,NM_001135168.1;ALDH3A1,missense_variant,p.Glu420Lys,ENST00000225740,NM_000691.4;ALDH3A1,missense_variant,p.Glu420Lys,ENST00000444455,NM_001135167.1;ALDH3A1,missense_variant,p.Glu347Lys,ENST00000494157,;ALDH3A1,missense_variant,p.Glu356Lys,ENST00000395555,;ALDH3A1,downstream_gene_variant,,ENST00000439102,;ALDH3A1,downstream_gene_variant,,ENST00000574162,;ALDH3A1,downstream_gene_variant,,ENST00000426645,;ALDH3A1,downstream_gene_variant,,ENST00000570414,;ALDH3A1,downstream_gene_variant,,ENST00000573368,;RP11-311F12.2,non_coding_transcript_exon_variant,,ENST00000580884,;ALDH3A1,downstream_gene_variant,,ENST00000485231,;ALDH3A1,synonymous_variant,p.=,ENST00000468746,;ALDH3A1,non_coding_transcript_exon_variant,,ENST00000479677,;ALDH3A1,downstream_gene_variant,,ENST00000485472,;ALDH3A1,downstream_gene_variant,,ENST00000575860,;ALDH3A1,downstream_gene_variant,,ENST00000487650,;	uc010cqu.2	c.1258G>A	1438/1779	2	2			c.1258G>A						17	SNP	c.(1258-1260)GAG>AAG	20	20			ovary(1)|pancreas(1)	2	Broad	aldehyde dehydrogenase 3A1		NADH(DB00157)	19641725		0.612	ENSG00000108602	493	g.chr17:19641725C>T	cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase							112.353232	KEEP	17	27	-1	39	28	17	27	-1	113.937914	39	28	0.366337	1	0	0	0	0	1	0	0	0	--	--		0	T			ALDH3A1_uc010vzd.1_Missense_Mutation_p.E420K|ALDH3A1_uc002gwj.2_Missense_Mutation_p.E420K|ALDH3A1_uc010cqv.2_Missense_Mutation_p.E419K|ALDH3A1_uc002gwk.2_Missense_Mutation_p.E537K|ALDH3A1_uc002gwl.1_Missense_Mutation_p.E347K	161	GBM-19-2619-TP	p.E420K	C	GAGAAAGTCTCGAAGCTCTTC	NM_001135168	NP_001128640	19641725	P30838	AL3A1_HUMAN	0		Colorectal(15;0.0829)	9	1588	-	T	T	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)		Missense_Mutation	420						
ALDH3A1	0	broad.mit.edu	GRCh37	17	19642827	19642827	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-4068-01	TCGA-19-4068-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000225740.6:c.1110C>T	p.Asn370=	p.N370=	ENST00000225740	NM_000691.4	370	aaC/aaT	0	A:0		1			A	N	uc010cqu.2	protein_coding		CCDS11212.1			1110/1362									ovary(1)|pancreas(1)	2	c.(1108-1110)AAC>AAT			hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF105,Pfam_domain:PF00171,Gene3D:3.40.309.10,PIRSF_domain:PIRSF036492,Superfamily_domains:SSF53720	aldehyde dehydrogenase 3A1	NADH(DB00157)		A:0.0001	ENSP00000225740		11-Aug	3.29E-05			0.000177		2.22E-05		8.47E-05	rs374241489,COSM2156463	11-Aug	.		ENST00000225740	Transcript			cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase	ENSG00000108602	g.chr17:19642827G>A	405			LOW								--	--	1																																		ALDH3A1_uc010vzd.1_Silent_p.N370N|ALDH3A1_uc002gwj.2_Silent_p.N370N|ALDH3A1_uc010cqv.2_Silent_p.N369N|ALDH3A1_uc002gwk.2_Silent_p.N487N|ALDH3A1_uc002gwl.1_Silent_p.N297N	0,1				p.N370N	NM_001135168	NP_001128640			0,1	AL3A1_HUMAN	ALDH3A1	HGNC	P30838	AL3A1_HUMAN		Colorectal(15;0.0829)	I3L4E5_HUMAN,I3L3W9_HUMAN,I3L3I9_HUMAN,I3L1H6_HUMAN,C9JMC5_HUMAN		7	1440	-	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)		UPI000013C87C	370					SNV	ALDH3A1,synonymous_variant,p.=,ENST00000457500,NM_001135168.1;ALDH3A1,synonymous_variant,p.=,ENST00000225740,NM_000691.4;ALDH3A1,synonymous_variant,p.=,ENST00000444455,NM_001135167.1;ALDH3A1,synonymous_variant,p.=,ENST00000494157,;ALDH3A1,synonymous_variant,p.=,ENST00000395555,;ALDH3A1,synonymous_variant,p.=,ENST00000439102,;ALDH3A1,downstream_gene_variant,,ENST00000574162,;ALDH3A1,downstream_gene_variant,,ENST00000426645,;ALDH3A1,downstream_gene_variant,,ENST00000570414,;ALDH3A1,downstream_gene_variant,,ENST00000573368,;RP11-311F12.2,downstream_gene_variant,,ENST00000580884,;ALDH3A1,downstream_gene_variant,,ENST00000485231,;ALDH3A1,synonymous_variant,p.=,ENST00000468746,;ALDH3A1,non_coding_transcript_exon_variant,,ENST00000479677,;ALDH3A1,downstream_gene_variant,,ENST00000485472,;ALDH3A1,downstream_gene_variant,,ENST00000575860,;ALDH3A1,downstream_gene_variant,,ENST00000487650,;	uc010cqu.2	c.1110C>T	1290/1779	2	2			c.1110C>T						17	SNP	c.(1108-1110)AAC>AAT	43	43			ovary(1)|pancreas(1)	2	Broad	aldehyde dehydrogenase 3A1		NADH(DB00157)	19642827		0.443	ENSG00000108602	493	g.chr17:19642827G>A	cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase							23.797131	KEEP	6	6	-1	3	11	6	6	-1	23.971662	3	11	0.4	1	0	0	0	0	0	0	1	0	--	--		0	A			ALDH3A1_uc010vzd.1_Silent_p.N370N|ALDH3A1_uc002gwj.2_Silent_p.N370N|ALDH3A1_uc010cqv.2_Silent_p.N369N|ALDH3A1_uc002gwk.2_Silent_p.N487N|ALDH3A1_uc002gwl.1_Silent_p.N297N	168	GBM-19-4068-TP	p.N370N	G	CCACCTTGTCGTTGCTGGAGA	NM_001135168	NP_001128640	19642827	P30838	AL3A1_HUMAN	0		Colorectal(15;0.0829)	7	1440	-	A	A	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)		Silent	370						
ALDH3A1	0	broad.mit.edu	GRCh37	17	19644516	19644516	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140108064	byFrequency	TCGA-26-5132-01	TCGA-26-5132-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000225740.6:c.697G>A	p.Ala233Thr	p.A233T	ENST00000225740	NM_000691.4	233	Gcc/Acc	0	T:0.002	T:0.0038	1	T:0		T	A/T	uc010cqu.2	protein_coding		CCDS11212.1			697/1362									ovary(1)|pancreas(1)	2	c.(697-699)GCC>ACC			hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF105,Pfam_domain:PF00171,Gene3D:3.40.309.10,PIRSF_domain:PIRSF036492,Superfamily_domains:SSF53720	aldehyde dehydrogenase 3A1	NADH(DB00157)	T:0	T:0	ENSP00000225740	T:0	11-Jun	0.000288	0.00317				1.50E-05		6.06E-05	rs140108064,COSM2156905	11-Jun	common_variant		ENST00000225740	Transcript		T:0.0010	cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase	ENSG00000108602	g.chr17:19644516C>T	405			MODERATE		0.63	neutral	getma.org/?cm=msa&ty=f&p=AL3A1_HUMAN&rb=1&re=428&var=A233T	getma.org/pdb.php?prot=AL3A1_HUMAN&from=1&to=428&var=A233T	getma.org/?cm=var&var=hg19,17,19644516,C,T&fts=all	A233T	--	--	1																																		ALDH3A1_uc010vzd.1_Missense_Mutation_p.A233T|ALDH3A1_uc002gwj.2_Missense_Mutation_p.A233T|ALDH3A1_uc010cqv.2_Missense_Mutation_p.A233T|ALDH3A1_uc002gwk.2_Missense_Mutation_p.A350T|ALDH3A1_uc002gwl.1_Missense_Mutation_p.A160T	0,1			benign(0.082)	p.A233T	NM_001135168	NP_001128640	T:0	tolerated(0.86)	0,1	AL3A1_HUMAN	ALDH3A1	HGNC	P30838	AL3A1_HUMAN		Colorectal(15;0.0829)	I3L4E5_HUMAN,I3L3W9_HUMAN,I3L3I9_HUMAN,I3L1H6_HUMAN,C9JMC5_HUMAN		5	1027	-	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)		UPI000013C87C	233					SNV	ALDH3A1,missense_variant,p.Ala233Thr,ENST00000457500,NM_001135168.1;ALDH3A1,missense_variant,p.Ala233Thr,ENST00000225740,NM_000691.4;ALDH3A1,missense_variant,p.Ala233Thr,ENST00000444455,NM_001135167.1;ALDH3A1,missense_variant,p.Ala160Thr,ENST00000494157,;ALDH3A1,missense_variant,p.Ala233Thr,ENST00000395555,;ALDH3A1,missense_variant,p.Ala233Thr,ENST00000439102,;ALDH3A1,missense_variant,p.Ala223Thr,ENST00000426645,;ALDH3A1,downstream_gene_variant,,ENST00000574162,;ALDH3A1,downstream_gene_variant,,ENST00000570414,;ALDH3A1,downstream_gene_variant,,ENST00000573368,;RP11-311F12.2,downstream_gene_variant,,ENST00000580884,;ALDH3A1,downstream_gene_variant,,ENST00000485231,;ALDH3A1,missense_variant,p.Ala233Thr,ENST00000468746,;ALDH3A1,non_coding_transcript_exon_variant,,ENST00000479677,;ALDH3A1,non_coding_transcript_exon_variant,,ENST00000485472,;ALDH3A1,non_coding_transcript_exon_variant,,ENST00000487650,;ALDH3A1,downstream_gene_variant,,ENST00000575860,;ALDH3A1,downstream_gene_variant,,ENST00000575103,;	uc010cqu.2	c.697G>A	877/1779	2	2			c.697G>A						17	SNP	c.(697-699)GCC>ACC	17	17			ovary(1)|pancreas(1)	2	Broad	aldehyde dehydrogenase 3A1		NADH(DB00157)	19644516		0.537	ENSG00000108602	493	g.chr17:19644516C>T	cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase							124.797207	KEEP	15	34	-1	30	16	15	34	-1	124.820674	30	16	0.481928	1	0	0	0	0	1	0	0	0	--	--		0	T			ALDH3A1_uc010vzd.1_Missense_Mutation_p.A233T|ALDH3A1_uc002gwj.2_Missense_Mutation_p.A233T|ALDH3A1_uc010cqv.2_Missense_Mutation_p.A233T|ALDH3A1_uc002gwk.2_Missense_Mutation_p.A350T|ALDH3A1_uc002gwl.1_Missense_Mutation_p.A160T	181	GBM-26-5132-TP	p.A233T	C	TTCCCCCAGGCGATGCGTCTG	NM_001135168	NP_001128640	19644516	P30838	AL3A1_HUMAN	0		Colorectal(15;0.0829)	5	1027	-	T	T	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)		Missense_Mutation	233						
ALDH5A1	7915	broad.mit.edu	GRCh37	6	24502755	24502755	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000348925.2:c.359G>A	p.Arg120Lys	p.R120K	ENST00000348925	NM_170740.1	120	aGg/aAg	0			1			A	R/K	uc003neg.2	protein_coding		CCDS4555.1			359/1608										0	c.(358-360)AGG>AAG			Gene3D:3.40.605.10,Pfam_domain:PF00171,hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF49,Superfamily_domains:SSF53720,TIGRFAM_domain:TIGR01780	aldehyde dehydrogenase 5A1 isoform 2 precursor	Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)			ENSP00000350191		10-Feb									COSM2152179	10-Feb	.		ENST00000357578	Transcript	1		acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity	ENSG00000112294	g.chr6:24502755G>A	408			MODERATE		2.92	medium	getma.org/?cm=msa&ty=f&p=SSDH_HUMAN&rb=69&re=530&var=R120K	getma.org/pdb.php?prot=SSDH_HUMAN&from=69&to=530&var=R120K	getma.org/?cm=var&var=hg19,6,24502755,G,A&fts=all	R120K	--	--	1																																		ALDH5A1_uc003nef.2_Missense_Mutation_p.R120K	1			probably_damaging(1)	p.R120K	NM_001080	NP_001071		deleterious(0)	1	SSDH_HUMAN	ALDH5A1	HGNC	P51649	SSDH_HUMAN			Q546H9_HUMAN,F5H328_HUMAN		2	387	+			UPI0000001644	120					SNV	ALDH5A1,missense_variant,p.Arg120Lys,ENST00000357578,NM_001080.3;ALDH5A1,missense_variant,p.Arg120Lys,ENST00000348925,NM_170740.1;ALDH5A1,missense_variant,p.Arg32Lys,ENST00000546278,;ALDH5A1,intron_variant,,ENST00000491546,;	uc003neg.2	c.359G>A	504/5248	2	2			c.359G>A						6	SNP	c.(358-360)AGG>AAG	42	42				0	Broad	aldehyde dehydrogenase 5A1 isoform 2 precursor		Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	24502755		0.343	ENSG00000112294	498	g.chr6:24502755G>A	acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity							98.130704	KEEP	17	18	-1	34	22	17	18	-1	99.427473	34	22	0.365854	1	0	0	0	0	1	0	0	0	--	--		0	A			ALDH5A1_uc003nef.2_Missense_Mutation_p.R120K	73	GBM-06-0877-TP	p.R120K	G	TTGCAGGAGAGGAGTTCATTA	NM_001080	NP_001071	24502755	P51649	SSDH_HUMAN	0			2	387	+	A	A			Missense_Mutation	120						
ALDH6A1	0	broad.mit.edu	GRCh37	14	74534253	74534253	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-5954-01	TCGA-19-5954-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000553458.1:c.872T>C	p.Val291Ala	p.V291A	ENST00000553458	NM_001278593.1	291	gTa/gCa	0			1			G	V/A	uc001xpo.2	protein_coding	YES	CCDS9826.1			872/1608										0	c.(871-873)GTA>GCA			Superfamily_domains:SSF53720,Pfam_domain:PF00171,TIGRFAM_domain:TIGR01722,Gene3D:3.40.605.10,hmmpanther:PTHR11699:SF27,hmmpanther:PTHR11699	aldehyde dehydrogenase 6A1 precursor	NADH(DB00157)			ENSP00000450436		12-Aug									COSM2156781	12-Aug	.		ENST00000553458	Transcript	1			mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity	ENSG00000119711	g.chr14:74534253A>G	7179			MODERATE		3.055	medium	getma.org/?cm=msa&ty=f&p=MMSA_HUMAN&rb=48&re=512&var=V291A	getma.org/pdb.php?prot=MMSA_HUMAN&from=48&to=512&var=V291A	getma.org/?cm=var&var=hg19,14,74534253,A,G&fts=all	V291A	--	--	1																																		C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010asa.2_Missense_Mutation_p.V136A|ALDH6A1_uc010tuq.1_Missense_Mutation_p.V278A	1	1		possibly_damaging(0.876)	p.V291A	NM_005589	NP_005580		tolerated(0.16)	1	MMSA_HUMAN	ALDH6A1	HGNC	Q02252	MMSA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00354)	G3V4Z4_HUMAN		8	971	-			UPI0000001610	291					SNV	ALDH6A1,missense_variant,p.Val291Ala,ENST00000553458,NM_001278593.1,NM_005589.3,NM_001278594.1;ALDH6A1,missense_variant,p.Val278Ala,ENST00000350259,;ALDH6A1,missense_variant,p.Val8Ala,ENST00000555126,;CCDC176,intron_variant,,ENST00000553773,;CCDC176,downstream_gene_variant,,ENST00000394009,NM_025057.2;AC005484.5,intron_variant,,ENST00000492026,;ALDH6A1,downstream_gene_variant,,ENST00000556852,;ALDH6A1,downstream_gene_variant,,ENST00000553814,;ALDH6A1,non_coding_transcript_exon_variant,,ENST00000554501,;ALDH6A1,downstream_gene_variant,,ENST00000554231,;	uc001xpo.2	c.872T>C	971/5499	3	3			c.872T>C						14	SNP	c.(871-873)GTA>GCA	16	16				0	Broad	aldehyde dehydrogenase 6A1 precursor		NADH(DB00157)	74534253		0.448	ENSG00000119711	499	g.chr14:74534253A>G		mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity							80.391921	KEEP	14	11	-1	26	18	14	11	-1	80.99663	26	18	0.393443	1	0	0	0	0	1	0	0	0	--	--		0	G			C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010asa.2_Missense_Mutation_p.V136A|ALDH6A1_uc010tuq.1_Missense_Mutation_p.V278A	174	GBM-19-5954-TP	p.V291A	A	TGGCATGACTACCCCATGGTT	NM_005589	NP_005580	74534253	Q02252	MMSA_HUMAN	0		BRCA - Breast invasive adenocarcinoma(234;0.00354)	8	971	-	G	G			Missense_Mutation	291						
ALDOA	0	broad.mit.edu	GRCh37	16	30080984	30080984	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-2571-01	TCGA-41-2571-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338110.5:c.789C>T	p.Pro263=	p.P263=	ENST00000338110	NM_000034.3	263	ccC/ccT	0			1			T	P	uc002dvw.2	protein_coding		CCDS10668.1			789/1095									lung(1)	1	c.(787-789)CCC>CCT			Superfamily_domains:SSF51569,Pfam_domain:PF00274,Gene3D:3.20.20.70,hmmpanther:PTHR11627	fructose-bisphosphate aldolase A				ENSP00000336927		14-Dec	2.47E-05					3.03E-05		6.08E-05	rs747443135,COSM3402264	14-Dec	.		ENST00000338110	Transcript	1		actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding	ENSG00000149925	g.chr16:30080984C>T	414			LOW								--	--	1																																		uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|ALDOA_uc002dvx.2_Silent_p.P263P|ALDOA_uc002dvy.2_Silent_p.P263P|ALDOA_uc002dvz.2_Silent_p.P263P|ALDOA_uc002dwa.3_Silent_p.P263P|ALDOA_uc002dwb.1_Silent_p.P263P|ALDOA_uc002dwc.2_Silent_p.P263P|ALDOA_uc010veg.1_Silent_p.P317P|ALDOA_uc002dwd.2_Silent_p.P267P	0,1				p.P263P	NM_184043	NP_908932			0,1	ALDOA_HUMAN	ALDOA	HGNC	P04075	ALDOA_HUMAN			H3BUH7_HUMAN,A4UCS9_HUMAN		10	1917	+			UPI0000000C5D	263					SNV	ALDOA,synonymous_variant,p.=,ENST00000566897,;ALDOA,synonymous_variant,p.=,ENST00000395248,;ALDOA,synonymous_variant,p.=,ENST00000338110,NM_000034.3;ALDOA,synonymous_variant,p.=,ENST00000564546,;ALDOA,synonymous_variant,p.=,ENST00000564595,NM_001243177.1;ALDOA,synonymous_variant,p.=,ENST00000412304,NM_001127617.2;ALDOA,synonymous_variant,p.=,ENST00000563060,NM_184043.2;ALDOA,synonymous_variant,p.=,ENST00000569798,;ALDOA,synonymous_variant,p.=,ENST00000395240,NM_184041.2;ALDOA,synonymous_variant,p.=,ENST00000569545,;ALDOA,synonymous_variant,p.=,ENST00000564688,;ALDOA,synonymous_variant,p.=,ENST00000565355,;ALDOA,downstream_gene_variant,,ENST00000568435,;ALDOA,downstream_gene_variant,,ENST00000562679,;ALDOA,downstream_gene_variant,,ENST00000562168,;ALDOA,downstream_gene_variant,,ENST00000563987,;ALDOA,downstream_gene_variant,,ENST00000566846,;ALDOA,downstream_gene_variant,,ENST00000566012,;ALDOA,non_coding_transcript_exon_variant,,ENST00000564521,;ALDOA,non_coding_transcript_exon_variant,,ENST00000566130,;ALDOA,downstream_gene_variant,,ENST00000567555,;ALDOA,downstream_gene_variant,,ENST00000562302,;ALDOA,downstream_gene_variant,,ENST00000566146,;	uc002dvw.2	c.789C>T	1876/2384	2	2			c.789C>T						16	SNP	c.(787-789)CCC>CCT	32	32			lung(1)	1	Broad	fructose-bisphosphate aldolase A			30080984		0.562	ENSG00000149925	503	g.chr16:30080984C>T	actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding							55.000536	KEEP	6	13	-1	15	23	6	13	-1	56.04929	15	23	0.351852	1	0	0	0	0	0	0	1	0	--	--		0	T			uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|ALDOA_uc002dvx.2_Silent_p.P263P|ALDOA_uc002dvy.2_Silent_p.P263P|ALDOA_uc002dvz.2_Silent_p.P263P|ALDOA_uc002dwa.3_Silent_p.P263P|ALDOA_uc002dwb.1_Silent_p.P263P|ALDOA_uc002dwc.2_Silent_p.P263P|ALDOA_uc010veg.1_Silent_p.P317P|ALDOA_uc002dwd.2_Silent_p.P267P	250	GBM-41-2571-TP	p.P263P	C	CAGTGCCCCCCGCTGTCACTG	NM_184043	NP_908932	30080984	P04075	ALDOA_HUMAN	0			10	1917	+	T	T			Silent	263						
ALG1	56052	broad.mit.edu	GRCh37	16	5128838	5128838	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0152-01	TCGA-06-0152-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262374.5:c.821G>A	p.Arg274His	p.R274H	ENST00000262374	NM_019109.4	274	cGt/cAt	0		A:0	1	A:0		A	R/H	uc002cym.2	protein_coding	YES	CCDS10528.1			821/1395									upper_aerodigestive_tract(1)|ovary(1)	2	c.(820-822)CGT>CAT			hmmpanther:PTHR13036,hmmpanther:PTHR13036:SF0,Superfamily_domains:SSF53756	beta-1,4-mannosyltransferase		A:0		ENSP00000262374	A:0	13-Jul	0.000651			0.000116		1.56E-05	0.00113	0.00461	rs529013891,COSM1378283	13-Jul	common_variant		ENST00000262374	Transcript	1	A:0.0008	dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity	ENSG00000033011	g.chr16:5128838G>A	18294			MODERATE		-0.715	neutral	getma.org/?cm=msa&ty=f&p=ALG1_HUMAN&rb=201&re=275&var=R274H	NA	getma.org/?cm=var&var=hg19,16,5128838,G,A&fts=all	R274H	--	--	1																																		ALG1_uc002cyj.2_Missense_Mutation_p.R163H|ALG1_uc002cyn.2_Missense_Mutation_p.R274H|ALG1_uc010bue.2_Missense_Mutation_p.R163H|ALG1_uc010uxy.1_Missense_Mutation_p.R163H	0,1	1		benign(0.002)	p.R274H	NM_019109	NP_061982	A:0.0041	tolerated(0.24)	0,1	ALG1_HUMAN	ALG1	HGNC	Q9BT22	ALG1_HUMAN			K7EID2_HUMAN,B4DP08_HUMAN		7	862	+		Ovarian(90;0.0164)	UPI000003B09B	274			Lumenal (Potential).		SNV	ALG1,missense_variant,p.Arg163His,ENST00000588623,;ALG1,missense_variant,p.Arg274His,ENST00000262374,NM_019109.4;ALG1,missense_variant,p.Arg163His,ENST00000544428,;ALG1,missense_variant,p.Arg163His,ENST00000591783,;ALG1,downstream_gene_variant,,ENST00000586840,;ALG1,3_prime_UTR_variant,,ENST00000591822,;RP11-10K17.3,upstream_gene_variant,,ENST00000564330,;	uc002cym.2	c.821G>A	852/1939	2	2			c.821G>A						16	SNP	c.(820-822)CGT>CAT	38	38			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	beta-1,4-mannosyltransferase			5128838		0.652	ENSG00000033011	506	g.chr16:5128838G>A	dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity							87.509244	KEEP	18	16	-1	19	16	18	16	-1	87.523158	19	16	0.516667	1	0	0	0	0	1	0	0	0	--	--		0	A			ALG1_uc002cyj.2_Missense_Mutation_p.R163H|ALG1_uc002cyn.2_Missense_Mutation_p.R274H|ALG1_uc010bue.2_Missense_Mutation_p.R163H|ALG1_uc010uxy.1_Missense_Mutation_p.R163H	25	GBM-06-0152-TP	p.R274H	G	ACGCGTCTCCGTGAGCGGCCA	NM_019109	NP_061982	5128838	Q9BT22	ALG1_HUMAN	0			7	862	+	A	A		Ovarian(90;0.0164)	Missense_Mutation	274			Lumenal (Potential).			
ALG1	56052	broad.mit.edu	GRCh37	16	5129756	5129756	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0189-01	TCGA-06-0189-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262374.5:c.909A>G	p.Glu303=	p.E303=	ENST00000262374	NM_019109.4	303	gaA/gaG	0			1			G	E	uc002cym.2	protein_coding	YES	CCDS10528.1			909/1395									upper_aerodigestive_tract(1)|ovary(1)	2	c.(907-909)GAA>GAG			Pfam_domain:PF13692,hmmpanther:PTHR13036,hmmpanther:PTHR13036:SF0,Superfamily_domains:SSF53756	beta-1,4-mannosyltransferase				ENSP00000262374		13-Sep									COSM331817	13-Sep	.		ENST00000262374	Transcript	1		dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity	ENSG00000033011	g.chr16:5129756A>G	18294			LOW								--	--	1																																		ALG1_uc002cyj.2_Silent_p.E192E|ALG1_uc002cyn.2_Silent_p.E303E|ALG1_uc010bue.2_Silent_p.E192E|ALG1_uc010uxy.1_Silent_p.E192E	1	1			p.E303E	NM_019109	NP_061982			1	ALG1_HUMAN	ALG1	HGNC	Q9BT22	ALG1_HUMAN			K7EID2_HUMAN,B4DP08_HUMAN		9	950	+		Ovarian(90;0.0164)	UPI000003B09B	303			Lumenal (Potential).		SNV	ALG1,synonymous_variant,p.=,ENST00000588623,;ALG1,synonymous_variant,p.=,ENST00000262374,NM_019109.4;ALG1,synonymous_variant,p.=,ENST00000544428,;FAM86A,downstream_gene_variant,,ENST00000427587,NM_201400.2;FAM86A,downstream_gene_variant,,ENST00000458008,NM_201598.2;ALG1,downstream_gene_variant,,ENST00000591783,;ALG1,downstream_gene_variant,,ENST00000586840,;ALG1,3_prime_UTR_variant,,ENST00000591822,;FAM86A,downstream_gene_variant,,ENST00000585436,;RP11-10K17.3,upstream_gene_variant,,ENST00000564330,;	uc002cym.2	c.909A>G	940/1939	3	3			c.909A>G						16	SNP	c.(907-909)GAA>GAG	56	56			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	beta-1,4-mannosyltransferase			5129756		0.348	ENSG00000033011	506	g.chr16:5129756A>G	dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity							-40.372605	KEEP	2	5	-1	117	96	2	5	-1	9.259788	117	96	0.020725	1	0	0	0	0	0	0	1	0	--	--		0	G			ALG1_uc002cyj.2_Silent_p.E192E|ALG1_uc002cyn.2_Silent_p.E303E|ALG1_uc010bue.2_Silent_p.E192E|ALG1_uc010uxy.1_Silent_p.E192E	42	GBM-06-0189-TP	p.E303E	A	CAGAGTTTGAACAACTGACTC	NM_019109	NP_061982	5129756	Q9BT22	ALG1_HUMAN	0			9	950	+	G	G		Ovarian(90;0.0164)	Silent	303			Lumenal (Potential).			
ALG10B	0	broad.mit.edu	GRCh37	12	38714180	38714180	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308742.4:c.587G>A	p.Cys196Tyr	p.C196Y	ENST00000308742	NM_001013620.3	196	tGt/tAt	0			1			A	C/Y	uc001rln.3	protein_coding	YES	CCDS31772.1			587/1422									ovary(2)|skin(1)	3	c.(586-588)TGT>TAT			hmmpanther:PTHR12989:SF12,hmmpanther:PTHR12989,Pfam_domain:PF04922,PIRSF_domain:PIRSF028810	asparagine-linked glycosylation 10 homolog B				ENSP00000310120		3-Mar									COSM3398683	3-Mar	.		ENST00000308742	Transcript			dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	ENSG00000175548	g.chr12:38714180G>A	31088			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=AG10B_HUMAN&rb=28&re=427&var=C196Y	NA	getma.org/?cm=var&var=hg19,12,38714180,G,A&fts=all	C196Y	--	--	1																																		ALG10B_uc001rlo.3_Missense_Mutation_p.C166Y|ALG10B_uc010skk.1_Missense_Mutation_p.C136Y	1	1		possibly_damaging(0.566)	p.C196Y	NM_001013620	NP_001013642		tolerated(0.07)	1	AG10B_HUMAN	ALG10B	HGNC	Q5I7T1	AG10B_HUMAN					3	726	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	UPI000013EDA4	196			Helical; (Potential).		SNV	ALG10B,missense_variant,p.Cys196Tyr,ENST00000308742,NM_001013620.3;ALG10B,intron_variant,,ENST00000551464,;AC117372.1,downstream_gene_variant,,ENST00000401168,;ALG10B,3_prime_UTR_variant,,ENST00000548240,;ALG10B,non_coding_transcript_exon_variant,,ENST00000553138,;	uc001rln.3	c.587G>A	903/3111	1	1			c.587G>A						12	SNP	c.(586-588)TGT>TAT	53	53			ovary(2)|skin(1)	3	Broad	asparagine-linked glycosylation 10 homolog B			38714180		0.398	ENSG00000175548	508	g.chr12:38714180G>A	dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity							53.55345	KEEP	13	12	-1	42	52	13	12	-1	60.2729	42	52	0.23301	1	0	0	0	0	1	0	0	0	--	--		0	A			ALG10B_uc001rlo.3_Missense_Mutation_p.C166Y|ALG10B_uc010skk.1_Missense_Mutation_p.C136Y	230	GBM-32-1979-TP	p.C196Y	G	GCTGTCTTCTGTGCAGGGAAT	NM_001013620	NP_001013642	38714180	Q5I7T1	AG10B_HUMAN	0			3	726	+	A	A	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	Missense_Mutation	196			Helical; (Potential).			
ALG13	79868	broad.mit.edu	GRCh37	X	110925413	110925413	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394780.3:c.135G>A	p.Thr45=	p.T45=	ENST00000394780	NM_001257231.1	45	acG/acA	0			1			A	T	uc011msy.1	protein_coding	YES	CCDS55477.1			135/3414									lung(1)	1	c.(133-135)ACG>ACA			Pfam_domain:PF04101,Gene3D:3.40.50.2000	SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);				ENSP00000378260		27-Feb										27-Feb	.		ENST00000394780	Transcript	1		dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	ENSG00000101901	g.chrX:110925413G>A	30881			LOW								--	--	1																																		ALG13_uc004epi.1_Silent_p.T45T|ALG13_uc011msw.1_5'UTR|ALG13_uc011msx.1_Intron|ALG13_uc011msz.1_5'UTR|ALG13_uc011mta.1_Intron|ALG13_uc011mtb.1_5'UTR		1			p.T45T						ALG13_HUMAN	ALG13	HGNC	Q9NP73	ALG13_HUMAN			D6RE84_HUMAN,D6RD27_HUMAN		2	169	+			UPI0000E5AFF9	45					SNV	ALG13,synonymous_variant,p.=,ENST00000394780,NM_001257231.1,NM_001099922.2;ALG13,synonymous_variant,p.=,ENST00000371979,NM_018466.4;ALG13,synonymous_variant,p.=,ENST00000486353,;ALG13,5_prime_UTR_variant,,ENST00000251943,NM_001257237.1,NM_001257234.1,NM_001257230.1;ALG13,intron_variant,,ENST00000495283,;ALG13,non_coding_transcript_exon_variant,,ENST00000489033,;ALG13,non_coding_transcript_exon_variant,,ENST00000487141,;ALG13,non_coding_transcript_exon_variant,,ENST00000471924,;ALG13,non_coding_transcript_exon_variant,,ENST00000468657,;ALG13,non_coding_transcript_exon_variant,,ENST00000473389,;ALG13,non_coding_transcript_exon_variant,,ENST00000482742,;ALG13,intron_variant,,ENST00000492038,;ALG13,intron_variant,,ENST00000482374,;	uc011msy.1	c.135G>A	147/4071	1	1			c.135G>A						23	SNP	c.(133-135)ACG>ACA	57	57			lung(1)	1	Broad	SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);			110925413		0.413	ENSG00000101901	511	g.chrX:110925413G>A	dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity							-39.816606	KEEP	6	5	-1	138	146	6	5	-1	22.352375	138	146	0.040293	1	0	0	0	0	0	0	1	0	--	--		0	A			ALG13_uc004epi.1_Silent_p.T45T|ALG13_uc011msw.1_5'UTR|ALG13_uc011msx.1_Intron|ALG13_uc011msz.1_5'UTR|ALG13_uc011mta.1_Intron|ALG13_uc011mtb.1_5'UTR	18	GBM-06-0137-TP	p.T45T	G	GTAGAGGAACGGTGGTACCTG			110925413	Q9NP73	ALG13_HUMAN	0			2	169	+	A	A			Silent	45						
ALG1L	200810	broad.mit.edu	GRCh37	3	125651539	125651539	+	synonymous_variant	Silent	SNP	A	A	C	rs147593769	by1000genomes	TCGA-06-0743-01	TCGA-06-0743-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340333.3:c.114T>G	p.Leu38=	p.L38=	ENST00000340333	NM_001195223.1	38	ctT/ctG	0			1			C	L	uc003eig.1	protein_coding	YES	CCDS33840.1			114/564										0	c.(112-114)CTT>CTG			hmmpanther:PTHR13036,hmmpanther:PTHR13036:SF0	asparagine-linked glycosylation 1-like				ENSP00000340009		6-Mar									COSM1723020	6-Mar	.		ENST00000340333	Transcript					transferase activity, transferring glycosyl groups	ENSG00000189366	g.chr3:125651539A>C	33721			LOW								--	--	1																																			1	1			p.L38L	NM_001015050	NP_001015050			1	ALG1L_HUMAN	ALG1L	HGNC	Q6GMV1	ALG1L_HUMAN					3	278	-			UPI000020A11A	38					SNV	ALG1L,synonymous_variant,p.=,ENST00000340333,NM_001195223.1,NM_001015050.2;FAM86JP,downstream_gene_variant,,ENST00000485843,;FAM86JP,downstream_gene_variant,,ENST00000467239,;FAM86JP,downstream_gene_variant,,ENST00000486431,;FAM86JP,downstream_gene_variant,,ENST00000484500,;	uc003eig.1	c.114T>G	278/805	3	3			c.114T>G						3	SNP	c.(112-114)CTT>CTG	1	1				0	Broad	asparagine-linked glycosylation 1-like			125651539		0.353	ENSG00000189366	513	g.chr3:125651539A>C			transferase activity, transferring glycosyl groups							-24.686921	KEEP	1	2	-1	81	59	1	2	-1	7.076584	81	59	0.02381	1	0	0	0	0	0	0	1	0	--	--		0	C				65	GBM-06-0743-TP	p.L38L	A	CATCAAGAGTAAGTTGTTCAA	NM_001015050	NP_001015050	125651539	Q6GMV1	ALG1L_HUMAN	0			3	278	-	C	C			Silent	38						
ALG3	0	broad.mit.edu	GRCh37	3	183961666	183961666	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs2233466	by1000genomes	TCGA-26-6174-01	TCGA-26-6174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397676.3:c.845C>T	p.Ala282Val	p.A282V	ENST00000397676	NM_005787.5	282	gCg/gTg	0	A:0.0022	A:0.0015	1	A:0		A	A/V	uc003fne.2	protein_coding	YES	CCDS46968.1			845/1317										0	c.(844-846)GCG>GTG			Low_complexity_(Seg):seg,hmmpanther:PTHR12646:SF0,hmmpanther:PTHR12646,Pfam_domain:PF05208	alpha-1,3-mannosyltransferase ALG3 isoform a		A:0.001	A:0.0004	ENSP00000380793	A:0	9-Jun	0.000471	0.0024	0.000174	0.0014		0.000274		0.000122	rs2233466,COSM3408473,COSM3408474	9-Jun	common_variant		ENST00000397676	Transcript	1	A:0.0006	dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	ENSG00000214160	g.chr3:183961666G>A	23056			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=ALG3_HUMAN&rb=45&re=406&var=A282V	NA	getma.org/?cm=var&var=hg19,3,183961666,G,A&fts=all	A282V	--	--	1																																		ALG3_uc011brc.1_Missense_Mutation_p.A247V|ALG3_uc011brd.1_Missense_Mutation_p.A226V|ALG3_uc011bre.1_Missense_Mutation_p.A234V|ALG3_uc003fnf.1_Missense_Mutation_p.A242V	0,1,1	1		benign(0.067)	p.A282V	NM_005787	NP_005778	A:0	tolerated(0.05)	0,1,1	ALG3_HUMAN	ALG3	HGNC	Q92685	ALG3_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)				6	876	-	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		UPI0000125838	282					SNV	ALG3,missense_variant,p.Ala242Val,ENST00000455059,;ALG3,missense_variant,p.Ala234Val,ENST00000445626,NM_001006941.2;ALG3,missense_variant,p.Ala282Val,ENST00000397676,NM_005787.5;ALG3,missense_variant,p.Ala226Val,ENST00000418734,;ALG3,missense_variant,p.Ala186Val,ENST00000446569,;EIF2B5,intron_variant,,ENST00000444495,;VWA5B2,downstream_gene_variant,,ENST00000426955,NM_138345.1;VWA5B2,downstream_gene_variant,,ENST00000273794,;MIR1224,downstream_gene_variant,,ENST00000408193,;ALG3,non_coding_transcript_exon_variant,,ENST00000463495,;ALG3,3_prime_UTR_variant,,ENST00000411922,;ALG3,3_prime_UTR_variant,,ENST00000423996,;ALG3,3_prime_UTR_variant,,ENST00000414845,;ALG3,non_coding_transcript_exon_variant,,ENST00000462735,;VWA5B2,downstream_gene_variant,,ENST00000461141,;ALG3,downstream_gene_variant,,ENST00000461415,;ALG3,upstream_gene_variant,,ENST00000485912,;ALG3,downstream_gene_variant,,ENST00000488976,;VWA5B2,downstream_gene_variant,,ENST00000493493,;ALG3,downstream_gene_variant,,ENST00000482048,;ALG3,downstream_gene_variant,,ENST00000477959,;	uc003fne.2	c.845C>T	876/1528	2	2			c.845C>T						3	SNP	c.(844-846)GCG>GTG	44	44				0	Broad	alpha-1,3-mannosyltransferase ALG3 isoform a			183961666		0.612	ENSG00000214160	515	g.chr3:183961666G>A	dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity							7.01611	KEEP	2	4	-1	25	20	2	4	-1	12.897425	25	20	0.133333	1	0	0	0	0	1	0	0	0	--	--		0	A			ALG3_uc011brc.1_Missense_Mutation_p.A247V|ALG3_uc011brd.1_Missense_Mutation_p.A226V|ALG3_uc011bre.1_Missense_Mutation_p.A234V|ALG3_uc003fnf.1_Missense_Mutation_p.A242V	188	GBM-26-6174-TP	p.A282V	G	CAGGAAGAGCGCCTCTGGGAG	NM_005787	NP_005778	183961666	Q92685	ALG3_HUMAN	0	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		6	876	-	A	A	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Missense_Mutation	282						
ALG3	0	broad.mit.edu	GRCh37	3	183960423	183960423	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-27-1834-01	TCGA-27-1834-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397676.3:c.1196A>C	p.Tyr399Ser	p.Y399S	ENST00000397676	NM_005787.5	399	tAc/tCc	0			1			G	Y/S	uc003fne.2	protein_coding	YES	CCDS46968.1			1196/1317										0	c.(1195-1197)TAC>TCC			hmmpanther:PTHR12646:SF0,hmmpanther:PTHR12646,Pfam_domain:PF05208	alpha-1,3-mannosyltransferase ALG3 isoform a				ENSP00000380793		9-Sep									COSM3748220,COSM3748221	9-Sep	.		ENST00000397676	Transcript	1		dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	ENSG00000214160	g.chr3:183960423T>G	23056			MODERATE		3.415	medium	getma.org/?cm=msa&ty=f&p=ALG3_HUMAN&rb=45&re=406&var=Y399S	NA	getma.org/?cm=var&var=hg19,3,183960423,T,G&fts=all	Y399S	--	--	1																																		ALG3_uc011brc.1_Missense_Mutation_p.Y364S|ALG3_uc011brd.1_Missense_Mutation_p.Y343S|ALG3_uc011bre.1_Missense_Mutation_p.Y351S	1,1	1		probably_damaging(0.996)	p.Y399S	NM_005787	NP_005778		deleterious(0)	1,1	ALG3_HUMAN	ALG3	HGNC	Q92685	ALG3_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)				9	1227	-	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		UPI0000125838	399					SNV	ALG3,missense_variant,p.Tyr359Ser,ENST00000455059,;ALG3,missense_variant,p.Tyr351Ser,ENST00000445626,NM_001006941.2;ALG3,missense_variant,p.Tyr399Ser,ENST00000397676,NM_005787.5;ALG3,missense_variant,p.Tyr343Ser,ENST00000418734,;ALG3,missense_variant,p.Tyr303Ser,ENST00000446569,;EIF2B5,intron_variant,,ENST00000444495,;VWA5B2,downstream_gene_variant,,ENST00000426955,NM_138345.1;VWA5B2,downstream_gene_variant,,ENST00000273794,;MIR1224,downstream_gene_variant,,ENST00000408193,;ALG3,downstream_gene_variant,,ENST00000463495,;ALG3,3_prime_UTR_variant,,ENST00000411922,;ALG3,non_coding_transcript_exon_variant,,ENST00000485912,;VWA5B2,downstream_gene_variant,,ENST00000461141,;ALG3,downstream_gene_variant,,ENST00000461415,;ALG3,downstream_gene_variant,,ENST00000488976,;ALG3,downstream_gene_variant,,ENST00000423996,;ALG3,downstream_gene_variant,,ENST00000414845,;VWA5B2,downstream_gene_variant,,ENST00000493493,;ALG3,downstream_gene_variant,,ENST00000482048,;ALG3,downstream_gene_variant,,ENST00000462735,;ALG3,downstream_gene_variant,,ENST00000477959,;	uc003fne.2	c.1196A>C	1227/1528	3	3			c.1196A>C						3	SNP	c.(1195-1197)TAC>TCC	15	15				0	Broad	alpha-1,3-mannosyltransferase ALG3 isoform a			183960423		0.587	ENSG00000214160	515	g.chr3:183960423T>G	dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity							-1.086002	KEEP	6	8	-1	28	25	6	8	-1	7.037401	28	25	0.1	1	0	0	0	0	1	0	0	0	--	--		0	G			ALG3_uc011brc.1_Missense_Mutation_p.Y364S|ALG3_uc011brd.1_Missense_Mutation_p.Y343S|ALG3_uc011bre.1_Missense_Mutation_p.Y351S	193	GBM-27-1834-TP	p.Y399S	T	TGTGGAAGGGTATGTGTTCCA	NM_005787	NP_005778	183960423	Q92685	ALG3_HUMAN	0	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		9	1227	-	G	G	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Missense_Mutation	399						
ALK	0	broad.mit.edu	GRCh37	2	29443572	29443572	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T			TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389048.3:c.3645G>A	p.Pro1215=	p.P1215=	ENST00000389048	NM_004304.4	1215	ccG/ccA	0			1			T	P	uc002rmy.2	protein_coding	YES	CCDS33172.1			3645/4863	T|Mis|A		NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)		haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	c.(3643-3645)CCG>CCA			PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF276,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112	anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)			ENSP00000373700		23/29	8.24E-05					0.000151			rs775768862,COSM3407813	23/29	.	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	ENST00000389048	Transcript	1		protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	ENSG00000171094	g.chr2:29443572C>T	427			LOW								--	--	1																																		ALK_uc010ymo.1_Silent_p.P147P	0,1	1			p.P1215P	NM_004304	NP_004295			0,1	ALK_HUMAN	ALK	HGNC	Q9UM73	ALK_HUMAN			Q580I3_HUMAN		23	4552	-	Acute lymphoblastic leukemia(172;0.155)		UPI00001684DA	1215			Protein kinase.|Cytoplasmic (Potential).		SNV	ALK,splice_region_variant,p.=,ENST00000389048,NM_004304.4;ALK,intron_variant,,ENST00000431873,;ALK,downstream_gene_variant,,ENST00000453137,;	uc002rmy.2	c.3645G>A	4552/6220	2	2			c.3645G>A	T|Mis|A		NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	2	SNP	c.(3643-3645)CCG>CCA	46	46	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)		haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Broad	anaplastic lymphoma kinase precursor		Adenosine triphosphate(DB00171)	29443572	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	0.612	ENSG00000171094	520	g.chr2:29443572C>T	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			777			777	-13.050693	KEEP	3	0	-1	44	48	3	0	-1	6.897169	44	48	0.035294	1	0	0	0	0	0	0	1	0	--	--		0	T			ALK_uc010ymo.1_Silent_p.P147P	246	GBM-32-4211-TP	p.P1215P	C	TCTCACTCACCGGGCGAGGGC	NM_004304	NP_004295	29443572	Q9UM73	ALK_HUMAN	0			23	4552	-	T	T	Acute lymphoblastic leukemia(172;0.155)		Silent	1215			Protein kinase.|Cytoplasmic (Potential).			
ALLC	55821	broad.mit.edu	GRCh37	2	3727521	3727521	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01	TCGA-06-0686-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252505.3:c.235G>A	p.Val79Ile	p.V79I	ENST00000252505	NM_018436.3	79	Gtt/Att	0			1			A	V/I	uc010ewt.2	protein_coding	YES	CCDS46223.1			235/1176									central_nervous_system(1)	1	c.(235-237)GTT>ATT			hmmpanther:PTHR12045,Pfam_domain:PF03561,TIGRFAM_domain:TIGR02961,Gene3D:2.60.120.260,Superfamily_domains:SSF49785	allantoicase isoform a				ENSP00000252505		12-May									COSM2151595	12-May	.		ENST00000252505	Transcript					allantoicase activity	ENSG00000151360	g.chr2:3727521G>A	17377			MODERATE		-0.805	neutral	getma.org/?cm=msa&ty=f&p=ALLC_HUMAN&rb=28&re=200&var=V98I	getma.org/pdb.php?prot=ALLC_HUMAN&from=28&to=200&var=V98I	getma.org/?cm=var&var=hg19,2,3727521,G,A&fts=all	V98I	--	--	1				HNSCC(21;0.051)																															1	1		benign(0.002)	p.V79I	NM_018436	NP_060906		tolerated(0.33)	1	ALLC_HUMAN	ALLC	HGNC	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	B4DY77_HUMAN		5	396	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	UPI000050BBEF	98					SNV	ALLC,missense_variant,p.Val79Ile,ENST00000252505,NM_018436.3;	uc010ewt.2	c.235G>A	397/1446	2	2			c.235G>A						2	SNP	c.(235-237)GTT>ATT	33	33			central_nervous_system(1)	1	Broad	allantoicase isoform a			3727521		0.532	ENSG00000151360	529	g.chr2:3727521G>A			allantoicase activity							150.78442	KEEP	35	18	-1	48	28	35	18	-1	151.19565	48	28	0.436975	1	0	0	0	0	1	0	0	0	--	--	HNSCC(21;0.051)	0	A				64	GBM-06-0686-TP	p.V79I	G	CGACGTGGACGTTTCTTACTT	NM_018436	NP_060906	3727521	Q8N6M5	ALLC_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	5	396	+	A	A	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	Missense_Mutation	98						
ALLC	0	broad.mit.edu	GRCh37	2	3727515	3727515	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252505.3:c.229G>A	p.Val77Met	p.V77M	ENST00000252505	NM_018436.3	77	Gtg/Atg	0			1			A	V/M	uc010ewt.2	protein_coding	YES	CCDS46223.1			229/1176									central_nervous_system(1)	1	c.(229-231)GTG>ATG			hmmpanther:PTHR12045,Pfam_domain:PF03561,TIGRFAM_domain:TIGR02961,Gene3D:2.60.120.260,Superfamily_domains:SSF49785	allantoicase isoform a				ENSP00000252505		12-May	1.65E-05							0.000121	rs750935372,COSM1531983	12-May	.		ENST00000252505	Transcript					allantoicase activity	ENSG00000151360	g.chr2:3727515G>A	17377			MODERATE		3.04	medium	getma.org/?cm=msa&ty=f&p=ALLC_HUMAN&rb=28&re=200&var=V96M	getma.org/pdb.php?prot=ALLC_HUMAN&from=28&to=200&var=V96M	getma.org/?cm=var&var=hg19,2,3727515,G,A&fts=all	V96M	--	--	1				HNSCC(21;0.051)																															0,1	1		probably_damaging(0.989)	p.V77M	NM_018436	NP_060906		deleterious(0.02)	0,1	ALLC_HUMAN	ALLC	HGNC	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	B4DY77_HUMAN		5	390	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	UPI000050BBEF	96					SNV	ALLC,missense_variant,p.Val77Met,ENST00000252505,NM_018436.3;	uc010ewt.2	c.229G>A	391/1446	2	2			c.229G>A						2	SNP	c.(229-231)GTG>ATG	30	30			central_nervous_system(1)	1	Broad	allantoicase isoform a			3727515		0.547	ENSG00000151360	529	g.chr2:3727515G>A			allantoicase activity							125.015128	KEEP	22	30	-1	69	79	22	30	-1	133.913535	69	79	0.26776	1	0	0	0	0	1	0	0	0	--	--	HNSCC(21;0.051)	0	A				197	GBM-27-1838-TP	p.V77M	G	GGGCTTCGACGTGGACGTTTC	NM_018436	NP_060906	3727515	Q8N6M5	ALLC_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	5	390	+	A	A	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	Missense_Mutation	96						
ALLC	0	broad.mit.edu	GRCh37	2	3730599	3730599	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252505.3:c.446G>A	p.Gly149Asp	p.G149D	ENST00000252505	NM_018436.3	149	gGc/gAc	0			1			A	G/D	uc010ewt.2	protein_coding	YES	CCDS46223.1			446/1176									central_nervous_system(1)	1	c.(445-447)GGC>GAC			hmmpanther:PTHR12045,Pfam_domain:PF03561,TIGRFAM_domain:TIGR02961,Gene3D:2.60.120.260,Superfamily_domains:SSF49785	allantoicase isoform a				ENSP00000252505		12-Jul									COSM3407850	12-Jul	.		ENST00000252505	Transcript					allantoicase activity	ENSG00000151360	g.chr2:3730599G>A	17377			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=ALLC_HUMAN&rb=28&re=200&var=G168D	getma.org/pdb.php?prot=ALLC_HUMAN&from=28&to=200&var=G168D	getma.org/?cm=var&var=hg19,2,3730599,G,A&fts=all	G168D	--	--	1				HNSCC(21;0.051)																															1	1		benign(0.102)	p.G149D	NM_018436	NP_060906		tolerated(0.84)	1	ALLC_HUMAN	ALLC	HGNC	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	B4DY77_HUMAN		7	607	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	UPI000050BBEF	168					SNV	ALLC,missense_variant,p.Gly149Asp,ENST00000252505,NM_018436.3;	uc010ewt.2	c.446G>A	608/1446	1	1			c.446G>A						2	SNP	c.(445-447)GGC>GAC	63	63			central_nervous_system(1)	1	Broad	allantoicase isoform a			3730599		0.438	ENSG00000151360	529	g.chr2:3730599G>A			allantoicase activity							-67.184777	KEEP	4	1	-1	157	146	4	1	-1	8.546215	157	146	0.017361	1	0	0	0	0	1	0	0	0	--	--	HNSCC(21;0.051)	0	A				232	GBM-32-1982-TP	p.G149D	G	CCTGCTTCCGGCCACAACTAT	NM_018436	NP_060906	3730599	Q8N6M5	ALLC_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	7	607	+	A	A	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	Missense_Mutation	168						
ALMS1	7840	broad.mit.edu	GRCh37	2	73717955	73717955	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-2561-01	TCGA-06-2561-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264448.6:c.8866G>C	p.Ala2956Pro	p.A2956P	ENST00000264448	NM_015120.4	2956	Gct/Cct	0			1			C	A/P	uc002sje.1	protein_coding	YES	CCDS42697.1			8866/12504									skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9	c.(8872-8874)GCT>CCT			hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF23	Alstrom syndrome 1				ENSP00000264448		23-Oct									COSM2152716	23-Oct	.		ENST00000264448	Transcript	1		G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		ENSG00000116127	g.chr2:73717955G>C	428			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=ALMS1_HUMAN&rb=49&re=4165&var=A2956P	NA	getma.org/?cm=var&var=hg19,2,73717955,G,C&fts=all	A2956P	--	--	1																																		ALMS1_uc002sjf.1_Missense_Mutation_p.A2914P|ALMS1_uc002sjg.2_Missense_Mutation_p.A2344P|ALMS1_uc002sjh.1_Missense_Mutation_p.A2344P	1	1		probably_damaging(0.974)	p.A2958P	NM_015120	NP_055935			1	ALMS1_HUMAN	ALMS1	HGNC	Q8TCU4	ALMS1_HUMAN			A6NMY3_HUMAN		12	8983	+			UPI0000212786	2956					SNV	ALMS1,missense_variant,p.Ala2956Pro,ENST00000264448,NM_015120.4;ALMS1,missense_variant,p.Ala2914Pro,ENST00000409009,;AC096546.1,upstream_gene_variant,,ENST00000408160,;ALMS1,non_coding_transcript_exon_variant,,ENST00000484298,;ALMS1,intron_variant,,ENST00000423048,;	uc002sje.1	c.8872G>C	8977/12922	3	3			c.8872G>C						2	SNP	c.(8872-8874)GCT>CCT	64	64			skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9	Broad	Alstrom syndrome 1			73717955		0.438	ENSG00000116127	530	g.chr2:73717955G>C	G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole								276.851058	KEEP	43	51	-1	116	141	43	51	-1	292.949597	116	141	0.27003	1	0	0	0	0	1	0	0	0	--	--		0	C			ALMS1_uc002sjf.1_Missense_Mutation_p.A2914P|ALMS1_uc002sjg.2_Missense_Mutation_p.A2344P|ALMS1_uc002sjh.1_Missense_Mutation_p.A2344P	84	GBM-06-2561-TP	p.A2958P	G	GGATTCTATAGCTTCAGACCT	NM_015120	NP_055935	73717955	Q8TCU4	ALMS1_HUMAN	0			12	8983	+	C	C			Missense_Mutation	2956						
ALMS1	7840	broad.mit.edu	GRCh37	2	73717985	73717985	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-2561-01	TCGA-06-2561-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264448.6:c.8896G>C	p.Glu2966Gln	p.E2966Q	ENST00000264448	NM_015120.4	2966	Gaa/Caa	0		C:0	1	C:0		C	E/Q	uc002sje.1	protein_coding	YES	CCDS42697.1			8896/12504									skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9	c.(8902-8904)GAA>CAA			hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF23	Alstrom syndrome 1		C:0		ENSP00000264448	C:0	23-Oct	8.28E-06							6.06E-05	rs561233377,COSM2152723	23-Oct	.		ENST00000264448	Transcript	1	C:0.0002	G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		ENSG00000116127	g.chr2:73717985G>C	428			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=ALMS1_HUMAN&rb=49&re=4165&var=E2966Q	NA	getma.org/?cm=var&var=hg19,2,73717985,G,C&fts=all	E2966Q	--	--	1																																		ALMS1_uc002sjf.1_Missense_Mutation_p.E2924Q|ALMS1_uc002sjg.2_Missense_Mutation_p.E2354Q|ALMS1_uc002sjh.1_Missense_Mutation_p.E2354Q	0,1	1		probably_damaging(0.95)	p.E2968Q	NM_015120	NP_055935	C:0.001		0,1	ALMS1_HUMAN	ALMS1	HGNC	Q8TCU4	ALMS1_HUMAN			A6NMY3_HUMAN		12	9013	+			UPI0000212786	2966					SNV	ALMS1,missense_variant,p.Glu2966Gln,ENST00000264448,NM_015120.4;ALMS1,missense_variant,p.Glu2924Gln,ENST00000409009,;AC096546.1,upstream_gene_variant,,ENST00000408160,;ALMS1,non_coding_transcript_exon_variant,,ENST00000484298,;ALMS1,intron_variant,,ENST00000423048,;	uc002sje.1	c.8902G>C	9007/12922	3	3			c.8902G>C						2	SNP	c.(8902-8904)GAA>CAA	49	49			skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9	Broad	Alstrom syndrome 1			73717985		0.428	ENSG00000116127	530	g.chr2:73717985G>C	G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole								272.264714	KEEP	44	48	-1	93	136	44	48	-1	285.323569	93	136	0.28	1	0	0	0	0	1	0	0	0	--	--		0	C			ALMS1_uc002sjf.1_Missense_Mutation_p.E2924Q|ALMS1_uc002sjg.2_Missense_Mutation_p.E2354Q|ALMS1_uc002sjh.1_Missense_Mutation_p.E2354Q	84	GBM-06-2561-TP	p.E2968Q	G	CATTTCTCTTGAACAATGCCA	NM_015120	NP_055935	73717985	Q8TCU4	ALMS1_HUMAN	0			12	9013	+	C	C			Missense_Mutation	2966						
ALMS1	0	broad.mit.edu	GRCh37	2	73677648	73677648	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-12-3652-01	TCGA-12-3652-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264448.6:c.3991A>G	p.Thr1331Ala	p.T1331A	ENST00000264448	NM_015120.4	1331	Act/Gct	0			1			G	T/A	uc002sje.1	protein_coding	YES	CCDS42697.1			3991/12504									skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9	c.(3997-3999)ACT>GCT				Alstrom syndrome 1				ENSP00000264448		23-Aug									COSM3748133	23-Aug	.		ENST00000264448	Transcript	1		G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		ENSG00000116127	g.chr2:73677648A>G	428			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=ALMS1_HUMAN&rb=49&re=4165&var=T1331A	NA	getma.org/?cm=var&var=hg19,2,73677648,A,G&fts=all	T1331A	--	--	1																																		ALMS1_uc002sjf.1_Missense_Mutation_p.T1289A|ALMS1_uc002sjg.2_Missense_Mutation_p.T719A|ALMS1_uc002sjh.1_Missense_Mutation_p.T719A	1	1		benign(0.217)	p.T1333A	NM_015120	NP_055935			1	ALMS1_HUMAN	ALMS1	HGNC	Q8TCU4	ALMS1_HUMAN			A6NMY3_HUMAN		10	4108	+			UPI0000212786	1331			17.|34 X 47 AA approximate tandem repeat.		SNV	ALMS1,missense_variant,p.Thr1331Ala,ENST00000264448,NM_015120.4;ALMS1,missense_variant,p.Thr1289Ala,ENST00000409009,;ALMS1,missense_variant,p.Thr1331Ala,ENST00000377715,;ALMS1,upstream_gene_variant,,ENST00000484298,;ALMS1,upstream_gene_variant,,ENST00000423048,;	uc002sje.1	c.3997A>G	4102/12922	3	3			c.3997A>G						2	SNP	c.(3997-3999)ACT>GCT	63	63			skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9	Broad	Alstrom syndrome 1			73677648		0.453	ENSG00000116127	530	g.chr2:73677648A>G	G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole								377.315672	KEEP	59	56	-1	86	93	59	56	-1	380.035141	86	93	0.392593	1	0	0	0	0	1	0	0	0	--	--		0	G			ALMS1_uc002sjf.1_Missense_Mutation_p.T1289A|ALMS1_uc002sjg.2_Missense_Mutation_p.T719A|ALMS1_uc002sjh.1_Missense_Mutation_p.T719A	127	GBM-12-3652-TP	p.T1333A	A	TTTACCCTCTACTTTCTACTC	NM_015120	NP_055935	73677648	Q8TCU4	ALMS1_HUMAN	0			10	4108	+	G	G			Missense_Mutation	1331			17.|34 X 47 AA approximate tandem repeat.			
ALOX12B	242	broad.mit.edu	GRCh37	17	7984477	7984477	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0152-01	TCGA-06-0152-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319144.4:c.381C>T	p.Pro127=	p.P127=	ENST00000319144	NM_001139.2	127	ccC/ccT	0			1			A	P	uc002gjy.1	protein_coding	YES	CCDS11129.1			381/2106										0	c.(379-381)CCC>CCT			PROSITE_profiles:PS51393,hmmpanther:PTHR11771:SF41,hmmpanther:PTHR11771,Superfamily_domains:SSF48484	arachidonate 12-lipoxygenase, 12R type				ENSP00000315167		15-Mar									COSM2149868,COSM3403379	15-Mar	.		ENST00000319144	Transcript	1		epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	ENSG00000179477	g.chr17:7984477G>A	430			LOW								--	--	1				Multiple Myeloma(8;0.094)																														uc010cnq.1_RNA	1,1	1			p.P127P	NM_001139	NP_001130			1,1	LX12B_HUMAN	ALOX12B	HGNC	O75342	LX12B_HUMAN					3	642	-			UPI000000D996	127			Lipoxygenase.		SNV	ALOX12B,synonymous_variant,p.=,ENST00000319144,NM_001139.2;AC129492.6,3_prime_UTR_variant,,ENST00000399413,;ALOX12B,upstream_gene_variant,,ENST00000577351,;ALOX12B,upstream_gene_variant,,ENST00000583276,;ALOX12B,upstream_gene_variant,,ENST00000584116,;	uc002gjy.1	c.381C>T	642/2502	2	2			c.381C>T						17	SNP	c.(379-381)CCC>CCT	22	22				0	Broad	arachidonate 12-lipoxygenase, 12R type			7984477		0.617	ENSG00000179477	532	g.chr17:7984477G>A	epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity							38.818318	KEEP	14	12	-1	46	53	14	12	-1	48.03122	46	53	0.178947	1	0	0	0	0	0	0	1	0	--	--	Multiple Myeloma(8;0.094)	0	A			uc010cnq.1_RNA	25	GBM-06-0152-TP	p.P127P	G	CCAGGAGGACGGGGAGCGAGT	NM_001139	NP_001130	7984477	O75342	LX12B_HUMAN	0			3	642	-	A	A			Silent	127			Lipoxygenase.			
ALOX12B	242		GRCh37	17	7989533	7989533	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000319144.4:c.153C>A	p.Gly51=	p.G51=	ENST00000319144	NM_001139.2	51	ggC/ggA	0																																																																																																																																																																																																																																												
ALOX15B	0	broad.mit.edu	GRCh37	17	7948185	7948185	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01	TCGA-26-6174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380183.4:c.715G>A	p.Ala239Thr	p.A239T	ENST00000380183	NM_001141.2	239	Gcc/Acc	0	T:0		1			A	A/T	uc002gju.2	protein_coding	YES	CCDS11128.1			715/2031									ovary(1)	1	c.(715-717)GCC>ACC			PROSITE_profiles:PS51393,hmmpanther:PTHR11771:SF46,hmmpanther:PTHR11771,Pfam_domain:PF00305,Superfamily_domains:SSF48484	arachidonate 15-lipoxygenase, second type			T:0.0001	ENSP00000369530		14-Jun	2.47E-05	0.000288							rs375708086,COSM1182575	14-Jun	.		ENST00000380183	Transcript			induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	ENSG00000179593	g.chr17:7948185G>A	434			MODERATE		2.615	medium	getma.org/?cm=msa&ty=f&p=LX15B_HUMAN&rb=197&re=668&var=A239T	getma.org/pdb.php?prot=LX15B_HUMAN&from=197&to=668&var=A239T	getma.org/?cm=var&var=hg19,17,7948185,G,A&fts=all	A239T	--	--	1																																		ALOX15B_uc002gjv.2_Missense_Mutation_p.A239T|ALOX15B_uc002gjw.2_Missense_Mutation_p.A239T|ALOX15B_uc010vun.1_Missense_Mutation_p.A239T|ALOX15B_uc010cnp.2_Missense_Mutation_p.A45T	0,1	1		probably_damaging(0.98)	p.A239T	NM_001141	NP_001132		deleterious(0)	0,1	LX15B_HUMAN	ALOX15B	HGNC	O15296	LX15B_HUMAN					6	831	+			UPI0000140991	239			Lipoxygenase.		SNV	ALOX15B,missense_variant,p.Ala239Thr,ENST00000380183,NM_001141.2;ALOX15B,missense_variant,p.Ala239Thr,ENST00000380173,NM_001039131.1,NM_001039130.1;ALOX15B,missense_variant,p.Ala239Thr,ENST00000572022,;ALOX15B,missense_variant,p.Ala239Thr,ENST00000573359,;ALOX15B,non_coding_transcript_exon_variant,,ENST00000571240,;	uc002gju.2	c.715G>A	854/2739	2	2			c.715G>A						17	SNP	c.(715-717)GCC>ACC	43	43			ovary(1)	1	Broad	arachidonate 15-lipoxygenase, second type			7948185		0.607	ENSG00000179593	534	g.chr17:7948185G>A	induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity							29.658518	KEEP	6	7	-1	30	22	6	7	-1	33.330105	30	22	0.232143	1	0	0	0	0	1	0	0	0	--	--		0	A			ALOX15B_uc002gjv.2_Missense_Mutation_p.A239T|ALOX15B_uc002gjw.2_Missense_Mutation_p.A239T|ALOX15B_uc010vun.1_Missense_Mutation_p.A239T|ALOX15B_uc010cnp.2_Missense_Mutation_p.A45T	188	GBM-26-6174-TP	p.A239T	G	CGCCTTCTTCGCCTCCCAGTT	NM_001141	NP_001132	7948185	O15296	LX15B_HUMAN	0			6	831	+	A	A			Missense_Mutation	239			Lipoxygenase.			
ALOX15B	0	broad.mit.edu	GRCh37	17	7943287	7943287	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-4210-01	TCGA-32-4210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380183.4:c.435G>A	p.Arg145=	p.R145=	ENST00000380183	NM_001141.2	145	cgG/cgA	0			1			A	R	uc002gju.2	protein_coding	YES	CCDS11128.1			435/2031									ovary(1)	1	c.(433-435)CGG>CGA			Low_complexity_(Seg):seg,PROSITE_profiles:PS51393,hmmpanther:PTHR11771:SF46,hmmpanther:PTHR11771,Superfamily_domains:SSF48484,Prints_domain:PR00467	arachidonate 15-lipoxygenase, second type				ENSP00000369530		14-Mar									COSM3403368	14-Mar	.		ENST00000380183	Transcript			induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	ENSG00000179593	g.chr17:7943287G>A	434			LOW								--	--	1																																		ALOX15B_uc002gjv.2_Silent_p.R145R|ALOX15B_uc002gjw.2_Silent_p.R145R|ALOX15B_uc010vun.1_Silent_p.R145R|ALOX15B_uc010cnp.2_5'UTR	1	1			p.R145R	NM_001141	NP_001132			1	LX15B_HUMAN	ALOX15B	HGNC	O15296	LX15B_HUMAN					3	551	+			UPI0000140991	145			Lipoxygenase.		SNV	ALOX15B,synonymous_variant,p.=,ENST00000380183,NM_001141.2;ALOX15B,synonymous_variant,p.=,ENST00000380173,NM_001039131.1,NM_001039130.1;ALOX15B,synonymous_variant,p.=,ENST00000572022,;ALOX15B,synonymous_variant,p.=,ENST00000573359,;ALOX15B,non_coding_transcript_exon_variant,,ENST00000571240,;	uc002gju.2	c.435G>A	574/2739	1	1			c.435G>A						17	SNP	c.(433-435)CGG>CGA	52	52			ovary(1)	1	Broad	arachidonate 15-lipoxygenase, second type			7943287		0.607	ENSG00000179593	534	g.chr17:7943287G>A	induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity							230.868234	KEEP	31	59	-1	72	67	31	59	-1	232.72684	72	67	0.399038	1	0	0	0	0	0	0	1	0	--	--		0	A			ALOX15B_uc002gjv.2_Silent_p.R145R|ALOX15B_uc002gjw.2_Silent_p.R145R|ALOX15B_uc010vun.1_Silent_p.R145R|ALOX15B_uc010cnp.2_5'UTR	245	GBM-32-4210-TP	p.R145R	G	TTCAGGCCCGGCAGGAGATGT	NM_001141	NP_001132	7943287	O15296	LX15B_HUMAN	0			3	551	+	A	A			Silent	145			Lipoxygenase.			
ALOX15B	0	broad.mit.edu	GRCh37	17	7942479	7942479	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6193-01	TCGA-76-6193-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380183.4:c.6C>T	p.Ala2=	p.A2=	ENST00000380183	NM_001141.2	2	gcC/gcT	0			1			T	A	uc002gju.2	protein_coding	YES	CCDS11128.1			Jun-31									ovary(1)	1	c.(4-6)GCC>GCT			PROSITE_profiles:PS50095,hmmpanther:PTHR11771:SF46,hmmpanther:PTHR11771,SMART_domains:SM00308,Superfamily_domains:SSF49723	arachidonate 15-lipoxygenase, second type				ENSP00000369530		14-Jan									COSM3403367	14-Jan	.		ENST00000380183	Transcript			induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	ENSG00000179593	g.chr17:7942479C>T	434			LOW								--	--	1																																		ALOX15B_uc002gjv.2_Silent_p.A2A|ALOX15B_uc002gjw.2_Silent_p.A2A|ALOX15B_uc010vun.1_Silent_p.A2A|ALOX15B_uc010cnp.2_5'UTR	1	1			p.A2A	NM_001141	NP_001132			1	LX15B_HUMAN	ALOX15B	HGNC	O15296	LX15B_HUMAN					1	122	+			UPI0000140991	2			PLAT.		SNV	ALOX15B,synonymous_variant,p.=,ENST00000380183,NM_001141.2;ALOX15B,synonymous_variant,p.=,ENST00000380173,NM_001039131.1,NM_001039130.1;ALOX15B,synonymous_variant,p.=,ENST00000572022,;ALOX15B,synonymous_variant,p.=,ENST00000573359,;snoU13,upstream_gene_variant,,ENST00000459145,;ALOX15B,non_coding_transcript_exon_variant,,ENST00000571240,;	uc002gju.2	c.6C>T	145/2739	2	2			c.6C>T						17	SNP	c.(4-6)GCC>GCT	29	29			ovary(1)	1	Broad	arachidonate 15-lipoxygenase, second type			7942479		0.652	ENSG00000179593	534	g.chr17:7942479C>T	induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity							12.758164	KEEP	3	9	-1	31	33	3	9	-1	21.547268	31	33	0.125	1	0	0	0	0	0	0	1	0	--	--		0	T			ALOX15B_uc002gjv.2_Silent_p.A2A|ALOX15B_uc002gjw.2_Silent_p.A2A|ALOX15B_uc010vun.1_Silent_p.A2A|ALOX15B_uc010cnp.2_5'UTR	276	GBM-76-6193-TP	p.A2A	C	GCAGCATGGCCGAGTTCAGGG	NM_001141	NP_001132	7942479	O15296	LX15B_HUMAN	0			1	122	+	T	T			Silent	2			PLAT.			
ALOX5	0	broad.mit.edu	GRCh37	10	45936078	45936078	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374391.2:c.1182C>A	p.Phe394Leu	p.F394L	ENST00000374391	NM_000698.3	394	ttC/ttA	0			1			A	F/L	uc001jce.2	protein_coding	YES	CCDS7212.1			1182/2025									ovary(1)|pancreas(1)	2	c.(1180-1182)TTC>TTA			PROSITE_profiles:PS51393,hmmpanther:PTHR11771:SF5,hmmpanther:PTHR11771,PROSITE_patterns:PS00081,Gene3D:1.20.245.10,Pfam_domain:PF00305,Superfamily_domains:SSF48484,Prints_domain:PR00087	arachidonate 5-lipoxygenase	Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)			ENSP00000363512		14-Aug									COSM3397131	14-Aug	.		ENST00000374391	Transcript			hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	ENSG00000012779	g.chr10:45936078C>A	435			MODERATE		1.745	low	getma.org/?cm=msa&ty=f&p=LOX5_HUMAN&rb=150&re=666&var=F394L	getma.org/pdb.php?prot=LOX5_HUMAN&from=150&to=666&var=F394L	getma.org/?cm=var&var=hg19,10,45936078,C,A&fts=all	F394L	--	--	1																																		ALOX5_uc009xmt.2_Missense_Mutation_p.F394L|ALOX5_uc010qfg.1_Missense_Mutation_p.F394L	1	1		possibly_damaging(0.578)	p.F394L	NM_000698	NP_000689		deleterious(0)	1	LOX5_HUMAN	ALOX5	HGNC	P09917	LOX5_HUMAN			E5FPY7_HUMAN		8	1281	+		Lung SC(717;0.0257)	UPI0000043F84	394			Lipoxygenase.		SNV	ALOX5,missense_variant,p.Phe394Leu,ENST00000374391,NM_000698.3,NM_001256153.1;ALOX5,missense_variant,p.Phe394Leu,ENST00000542434,NM_001256154.1;RP11-67C2.2,downstream_gene_variant,,ENST00000435635,;ALOX5,non_coding_transcript_exon_variant,,ENST00000475300,;ALOX5,upstream_gene_variant,,ENST00000493336,;ALOX5,upstream_gene_variant,,ENST00000498461,;ALOX5,upstream_gene_variant,,ENST00000481117,;	uc001jce.2	c.1182C>A	1235/2504	2	2			c.1182C>A						10	SNP	c.(1180-1182)TTC>TTA	43	43			ovary(1)|pancreas(1)	2	Broad	arachidonate 5-lipoxygenase		Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	45936078		0.582	ENSG00000012779	535	g.chr10:45936078C>A	hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding							1.398848	KEEP	2	1	0.333333333	11	22	2	1	0.333333333	6.709432	11	22	0.09375	1	0	0	0	0	1	0	0	0	--	--		0	A			ALOX5_uc009xmt.2_Missense_Mutation_p.F394L|ALOX5_uc010qfg.1_Missense_Mutation_p.F394L	160	GBM-19-1790-TP	p.F394L	C	ACCCCATTTTCAAGGTACAGC	NM_000698	NP_000689	45936078	P09917	LOX5_HUMAN	0			8	1281	+	A	A		Lung SC(717;0.0257)	Missense_Mutation	394			Lipoxygenase.			
ALPK1	80216	broad.mit.edu	GRCh37	4	113351620	113351620	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0645-01	TCGA-06-0645-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000458497.1:c.917G>T	p.Cys306Phe	p.C306F	ENST00000458497	NM_001102406.1	306	tGt/tTt	0			1			T	C/F	uc003iap.3	protein_coding		CCDS3697.1			917/3735									ovary(5)	5	c.(916-918)TGT>TTT			hmmpanther:PTHR14187:SF30,hmmpanther:PTHR14187	alpha-kinase 1				ENSP00000177648		16-Nov									COSM2151249	16-Nov	.		ENST00000177648	Transcript					ATP binding|protein serine/threonine kinase activity	ENSG00000073331	g.chr4:113351620G>T	20917			MODERATE		2.39	medium	getma.org/?cm=msa&ty=f&p=ALPK1_HUMAN&rb=1&re=507&var=C306F	NA	getma.org/?cm=var&var=hg19,4,113351620,G,T&fts=all	C306F	--	--	1																																		ALPK1_uc003ian.3_Missense_Mutation_p.C306F|ALPK1_uc011cfx.1_Missense_Mutation_p.C228F|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Missense_Mutation_p.C134F	1			probably_damaging(0.999)	p.C306F	NM_025144	NP_079420		deleterious(0)	1	ALPK1_HUMAN	ALPK1	HGNC	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)			11	1196	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	UPI000045725F	306					SNV	ALPK1,missense_variant,p.Cys306Phe,ENST00000458497,NM_001102406.1,NM_025144.3;ALPK1,missense_variant,p.Cys306Phe,ENST00000177648,;ALPK1,missense_variant,p.Cys228Phe,ENST00000504176,NM_001253884.1;ALPK1,downstream_gene_variant,,ENST00000508589,;ALPK1,3_prime_UTR_variant,,ENST00000509722,;ALPK1,non_coding_transcript_exon_variant,,ENST00000504745,;ALPK1,intron_variant,,ENST00000505127,;ALPK1,downstream_gene_variant,,ENST00000515330,;ALPK1,downstream_gene_variant,,ENST00000512847,;ALPK1,downstream_gene_variant,,ENST00000509209,;	uc003iap.3	c.917G>T	1117/4537	2	2			c.917G>T						4	SNP	c.(916-918)TGT>TTT	47	47			ovary(5)	5	Broad	alpha-kinase 1			113351620		0.398	ENSG00000073331	539	g.chr4:113351620G>T			ATP binding|protein serine/threonine kinase activity			252			252	41.628305	KEEP	10	12	0.454545455	41	32	10	12	0.454545455	47.938546	41	32	0.209877	1	0	0	0	0	1	0	0	0	--	--		0	T			ALPK1_uc003ian.3_Missense_Mutation_p.C306F|ALPK1_uc011cfx.1_Missense_Mutation_p.C228F|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Missense_Mutation_p.C134F	59	GBM-06-0645-TP	p.C306F	G	CGTGGCACGTGTTTATTGTCC	NM_025144	NP_079420	113351620	Q96QP1	ALPK1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	11	1196	+	T	T		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	Missense_Mutation	306						
ALPK1	0	broad.mit.edu	GRCh37	4	113353098	113353098	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-14-0786-01	TCGA-14-0786-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000177648.9:c.2397delC	p.Leu800Ter	p.L800*	ENST00000177648		799	Ccc/cc	0			1			-	P/X	uc003iap.3	protein_coding		CCDS3697.1			2395/3735									ovary(5)	5	c.(2395-2397)CCCfs			hmmpanther:PTHR14187:SF30,hmmpanther:PTHR14187	alpha-kinase 1				ENSP00000177648		16-Nov										16-Nov	.		ENST00000177648	Transcript					ATP binding|protein serine/threonine kinase activity	ENSG00000073331	g.chr4:113353098delC	20917	2		HIGH								--	--	1																																		ALPK1_uc003ian.3_Frame_Shift_Del_p.P799fs|ALPK1_uc011cfx.1_Frame_Shift_Del_p.P721fs|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Frame_Shift_Del_p.P627fs					p.P799fs	NM_025144	NP_079420				ALPK1_HUMAN	ALPK1	HGNC	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)			11	2674	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	UPI000045725F	799					deletion	ALPK1,frameshift_variant,p.Leu800Ter,ENST00000458497,NM_001102406.1,NM_025144.3;ALPK1,frameshift_variant,p.Leu800Ter,ENST00000177648,;ALPK1,frameshift_variant,p.Leu722Ter,ENST00000504176,NM_001253884.1;ALPK1,downstream_gene_variant,,ENST00000508589,;ALPK1,3_prime_UTR_variant,,ENST00000509722,;ALPK1,non_coding_transcript_exon_variant,,ENST00000504745,;ALPK1,intron_variant,,ENST00000505127,;ALPK1,downstream_gene_variant,,ENST00000512847,;	uc003iap.3	c.2395delC	2595/4537	5	5			c.2395delC						4	DEL	c.(2395-2397)CCCfs	21	21			ovary(5)	5	Broad	alpha-kinase 1			113353098		0.488	ENSG00000073331	539	g.chr4:113353098delC			ATP binding|protein serine/threonine kinase activity			252			252														0.43	1	1	0	1	0	0	0	0	0	--	--		0	-			ALPK1_uc003ian.3_Frame_Shift_Del_p.P799fs|ALPK1_uc011cfx.1_Frame_Shift_Del_p.P721fs|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Frame_Shift_Del_p.P627fs	134	GBM-14-0786-TP	p.P799fs	C	TGAAGATGCACCCTTAGACTT	NM_025144	NP_079420	113353098	Q96QP1	ALPK1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	11	2674	+	-	-		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	Frame_Shift_Del	799						
ALPK1	0	broad.mit.edu	GRCh37	4	113353567	113353567	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000177648.9:c.2864G>A	p.Gly955Glu	p.G955E	ENST00000177648		955	gGg/gAg	0			1			A	G/E	uc003iap.3	protein_coding		CCDS3697.1			2864/3735									ovary(5)	5	c.(2863-2865)GGG>GAG			hmmpanther:PTHR14187:SF30,hmmpanther:PTHR14187	alpha-kinase 1				ENSP00000177648		16-Nov									COSM3409000	16-Nov	.		ENST00000177648	Transcript					ATP binding|protein serine/threonine kinase activity	ENSG00000073331	g.chr4:113353567G>A	20917			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=ALPK1_HUMAN&rb=531&re=963&var=G955E	NA	getma.org/?cm=var&var=hg19,4,113353567,G,A&fts=all	G955E	--	--	1																																		ALPK1_uc003ian.3_Missense_Mutation_p.G955E|ALPK1_uc011cfx.1_Missense_Mutation_p.G877E|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Missense_Mutation_p.G783E	1			possibly_damaging(0.796)	p.G955E	NM_025144	NP_079420		deleterious(0.01)	1	ALPK1_HUMAN	ALPK1	HGNC	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)			11	3143	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	UPI000045725F	955			Ser-rich.		SNV	ALPK1,missense_variant,p.Gly955Glu,ENST00000458497,NM_001102406.1,NM_025144.3;ALPK1,missense_variant,p.Gly955Glu,ENST00000177648,;ALPK1,missense_variant,p.Gly877Glu,ENST00000504176,NM_001253884.1;ALPK1,downstream_gene_variant,,ENST00000508589,;ALPK1,3_prime_UTR_variant,,ENST00000509722,;ALPK1,non_coding_transcript_exon_variant,,ENST00000504745,;ALPK1,intron_variant,,ENST00000505127,;ALPK1,downstream_gene_variant,,ENST00000512847,;	uc003iap.3	c.2864G>A	3064/4537	2	2			c.2864G>A						4	SNP	c.(2863-2865)GGG>GAG	24	24			ovary(5)	5	Broad	alpha-kinase 1			113353567		0.512	ENSG00000073331	539	g.chr4:113353567G>A			ATP binding|protein serine/threonine kinase activity			252			252	12.978624	KEEP	6	8	-1	51	66	6	8	-1	32.740561	51	66	0.103175	1	0	0	0	0	1	0	0	0	--	--		0	A			ALPK1_uc003ian.3_Missense_Mutation_p.G955E|ALPK1_uc011cfx.1_Missense_Mutation_p.G877E|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Missense_Mutation_p.G783E	213	GBM-28-2513-TP	p.G955E	G	AATTCCAGTGGGAGTTCTTGG	NM_025144	NP_079420	113353567	Q96QP1	ALPK1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	11	3143	+	A	A		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	Missense_Mutation	955			Ser-rich.			
ALPK2	115701	broad.mit.edu	GRCh37	18	56203942	56203942	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361673.3:c.3477G>A	p.Thr1159=	p.T1159=	ENST00000361673	NM_052947.3	1159	acG/acA	0			1			T	T	uc002lhj.3	protein_coding	YES	CCDS11966.2			3477/6513									ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14	c.(3475-3477)ACG>ACA			hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF6	heart alpha-kinase				ENSP00000354991		13-May	8.24E-06							6.06E-05	rs766930523,COSM3403589,COSM3403588	13-May	.		ENST00000361673	Transcript					ATP binding|protein serine/threonine kinase activity	ENSG00000198796	g.chr18:56203942C>T	20565			LOW								--	--	1																																		ALPK2_uc002lhk.1_Silent_p.T490T	0,1,1	1			p.T1159T	NM_052947	NP_443179			0,1,1	ALPK2_HUMAN	ALPK2	HGNC	Q86TB3	ALPK2_HUMAN					5	3691	-			UPI000022A768	1159					SNV	ALPK2,synonymous_variant,p.=,ENST00000361673,NM_052947.3;RP11-1151B14.4,non_coding_transcript_exon_variant,,ENST00000591360,;ALPK2,downstream_gene_variant,,ENST00000587842,;ALPK2,non_coding_transcript_exon_variant,,ENST00000589204,;	uc002lhj.3	c.3477G>A	3691/7303	1	1			c.3477G>A						18	SNP	c.(3475-3477)ACG>ACA	12	12			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14	Broad	heart alpha-kinase			56203942		0.567	ENSG00000198796	540	g.chr18:56203942C>T			ATP binding|protein serine/threonine kinase activity			343			343	134.173933	KEEP	38	27	-1	127	130	38	27	-1	158.246266	127	130	0.202055	1	0	0	0	0	0	0	1	0	--	--		0	T			ALPK2_uc002lhk.1_Silent_p.T490T	46	GBM-06-0209-TP	p.T1159T	C	CAGCAGATGTCGTAGGCAAAC	NM_052947	NP_443179	56203942	Q86TB3	ALPK2_HUMAN	0			5	3691	-	T	T			Silent	1159						
ALPK2	0	broad.mit.edu	GRCh37	18	56203541	56203541	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-6698-01	TCGA-06-6698-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361673.3:c.3878T>C	p.Ile1293Thr	p.I1293T	ENST00000361673	NM_052947.3	1293	aTa/aCa	0			1			G	I/T	uc002lhj.3	protein_coding	YES	CCDS11966.2			3878/6513									ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14	c.(3877-3879)ATA>ACA			hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF6	heart alpha-kinase				ENSP00000354991		13-May									COSM3403587,COSM3403586	13-May	.		ENST00000361673	Transcript					ATP binding|protein serine/threonine kinase activity	ENSG00000198796	g.chr18:56203541A>G	20565			MODERATE		-1.04	neutral	getma.org/?cm=msa&ty=f&p=ALPK2_HUMAN&rb=667&re=1783&var=I1293T	NA	getma.org/?cm=var&var=hg19,18,56203541,A,G&fts=all	I1293T	--	--	1																																		ALPK2_uc002lhk.1_Missense_Mutation_p.I624T	1,1	1		benign(0)	p.I1293T	NM_052947	NP_443179		tolerated(0.94)	1,1	ALPK2_HUMAN	ALPK2	HGNC	Q86TB3	ALPK2_HUMAN					5	4092	-			UPI000022A768	1293					SNV	ALPK2,missense_variant,p.Ile1293Thr,ENST00000361673,NM_052947.3;RP11-1151B14.4,non_coding_transcript_exon_variant,,ENST00000591360,;ALPK2,downstream_gene_variant,,ENST00000587842,;ALPK2,non_coding_transcript_exon_variant,,ENST00000589204,;	uc002lhj.3	c.3878T>C	4092/7303	3	3			c.3878T>C						18	SNP	c.(3877-3879)ATA>ACA	52	52			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14	Broad	heart alpha-kinase			56203541		0.507	ENSG00000198796	540	g.chr18:56203541A>G			ATP binding|protein serine/threonine kinase activity			343			343	339.450371	KEEP	45	62	-1	69	85	45	62	-1	341.370829	69	85	0.404167	1	0	0	0	0	1	0	0	0	--	--		0	G			ALPK2_uc002lhk.1_Missense_Mutation_p.I624T	112	GBM-06-6698-TP	p.I1293T	A	CAATGCTGCTATTTCAGAGGG	NM_052947	NP_443179	56203541	Q86TB3	ALPK2_HUMAN	0			5	4092	-	G	G			Missense_Mutation	1293						
ALPK2	0	broad.mit.edu	GRCh37	18	56202092	56202092	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-41-2572-01	TCGA-41-2572-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361673.3:c.5327delA	p.Lys1776SerfsTer14	p.K1776Sfs*14	ENST00000361673	NM_052947.3	1776	aAg/ag	0			1			-	K/X	uc002lhj.3	protein_coding	YES	CCDS11966.2			5327/6513									ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14	c.(5326-5328)AAGfs			hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF6	heart alpha-kinase				ENSP00000354991		13-May	8.24E-06					1.50E-05			rs761580163	13-May	.		ENST00000361673	Transcript					ATP binding|protein serine/threonine kinase activity	ENSG00000198796	g.chr18:56202092delT	20565			HIGH								--	--	1																																		ALPK2_uc002lhk.1_Frame_Shift_Del_p.K1107fs		1			p.K1776fs	NM_052947	NP_443179				ALPK2_HUMAN	ALPK2	HGNC	Q86TB3	ALPK2_HUMAN					5	5541	-			UPI000022A768	1776					deletion	ALPK2,frameshift_variant,p.Lys1776SerfsTer14,ENST00000361673,NM_052947.3;RP11-1151B14.4,upstream_gene_variant,,ENST00000591360,;ALPK2,downstream_gene_variant,,ENST00000587842,;ALPK2,non_coding_transcript_exon_variant,,ENST00000589204,;	uc002lhj.3	c.5327delA	5541/7303	5	5			c.5327delA						18	DEL	c.(5326-5328)AAGfs	61	61			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14	Broad	heart alpha-kinase			56202092		0.408	ENSG00000198796	540	g.chr18:56202092delT			ATP binding|protein serine/threonine kinase activity			343			343														0.01	1	1	0	1	0	0	0	0	0	--	--		0	-			ALPK2_uc002lhk.1_Frame_Shift_Del_p.K1107fs	251	GBM-41-2572-TP	p.K1776fs	T	GCAAGATGGCTTTTTTGGGTC	NM_052947	NP_443179	56202092	Q86TB3	ALPK2_HUMAN	0			5	5541	-	-	-			Frame_Shift_Del	1776						
ALPK3	57538	broad.mit.edu	GRCh37	15	85400203	85400203	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs142677464		TCGA-06-0152-01	TCGA-06-0152-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258888.5:c.2840C>A	p.Ala947Glu	p.A947E	ENST00000258888	NM_020778.4	947	gCg/gAg	0			1			A	A/E	uc002ble.2	protein_coding	YES	CCDS10333.1			2840/5724									stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12	c.(2839-2841)GCG>GAG			hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF21	alpha-kinase 3				ENSP00000258888		14-Jun									COSM2149834,COSM2149835	14-Jun	.		ENST00000258888	Transcript			heart development	nucleus	ATP binding|protein serine/threonine kinase activity	ENSG00000136383	g.chr15:85400203C>A	17574			MODERATE		-1.04	neutral	getma.org/?cm=msa&ty=f&p=ALPK3_HUMAN&rb=761&re=1129&var=A947E	NA	getma.org/?cm=var&var=hg19,15,85400203,C,A&fts=all	A947E	--	--	1																																			1,1	1		benign(0)	p.A947E	NM_020778	NP_065829		tolerated_low_confidence(1)	1,1	ALPK3_HUMAN	ALPK3	HGNC	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)				6	3007	+			UPI000013D013	947					SNV	ALPK3,missense_variant,p.Ala947Glu,ENST00000258888,NM_020778.4;SNORA25,upstream_gene_variant,,ENST00000364121,;	uc002ble.2	c.2840C>A	3007/10917	2	2			c.2840C>A						15	SNP	c.(2839-2841)GCG>GAG	33	33			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12	Broad	alpha-kinase 3			85400203		0.562	ENSG00000136383	541	g.chr15:85400203C>A	heart development	nucleus	ATP binding|protein serine/threonine kinase activity		p.A947V(HEC108-Tumor)	343		p.A947V(HEC108-Tumor)	343	220.406296	KEEP	35	40	0.533333333	57	88	35	40	0.533333333	223.096092	57	88	0.37234	1	0	0	0	0	1	0	0	0	--	--		0	A				25	GBM-06-0152-TP	p.A947E	C	CCACCTACAGCGGGTCCTAGA	NM_020778	NP_065829	85400203	Q96L96	ALPK3_HUMAN	0	BRCA - Breast invasive adenocarcinoma(143;0.0587)		6	3007	+	A	A			Missense_Mutation	947						
ALPK3	0	broad.mit.edu	GRCh37	15	85407896	85407896	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01	TCGA-41-3393-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258888.5:c.5329G>A	p.Gly1777Arg	p.G1777R	ENST00000258888	NM_020778.4	1777	Ggg/Agg	0			1			A	G/R	uc002ble.2	protein_coding	YES	CCDS10333.1			5329/5724									stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12	c.(5329-5331)GGG>AGG			Pfam_domain:PF02816,PROSITE_profiles:PS51158,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF21,SMART_domains:SM00811,Superfamily_domains:SSF56112	alpha-kinase 3				ENSP00000258888		14-Dec									COSM3401973,COSM3401974	14-Dec	.		ENST00000258888	Transcript			heart development	nucleus	ATP binding|protein serine/threonine kinase activity	ENSG00000136383	g.chr15:85407896G>A	17574			MODERATE		2.05	medium	getma.org/?cm=msa&ty=f&p=ALPK3_HUMAN&rb=1619&re=1819&var=G1777R	getma.org/pdb.php?prot=ALPK3_HUMAN&from=1619&to=1819&var=G1777R	getma.org/?cm=var&var=hg19,15,85407896,G,A&fts=all	G1777R	--	--	1																																		ALPK3_uc010upc.1_Missense_Mutation_p.G78R	1,1	1		probably_damaging(1)	p.G1777R	NM_020778	NP_065829		deleterious(0.01)	1,1	ALPK3_HUMAN	ALPK3	HGNC	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)				12	5496	+			UPI000013D013	1777			Alpha-type protein kinase.		SNV	ALPK3,missense_variant,p.Gly1777Arg,ENST00000258888,NM_020778.4;ALPK3,splice_region_variant,,ENST00000558077,;	uc002ble.2	c.5329G>A	5496/10917	2	2			c.5329G>A						15	SNP	c.(5329-5331)GGG>AGG	27	27			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12	Broad	alpha-kinase 3			85407896		0.507	ENSG00000136383	541	g.chr15:85407896G>A	heart development	nucleus	ATP binding|protein serine/threonine kinase activity		p.G1777R(NCIH1568-Tumor)	343		p.G1777R(NCIH1568-Tumor)	343	-5.727914	KEEP	3	0	-1	28	31	3	0	-1	6.883085	28	31	0.050847	1	0	0	0	0	1	0	0	0	--	--		0	A			ALPK3_uc010upc.1_Missense_Mutation_p.G78R	255	GBM-41-3393-TP	p.G1777R	G	AGACTTGGCAGGTACGAGGGT	NM_020778	NP_065829	85407896	Q96L96	ALPK3_HUMAN	0	BRCA - Breast invasive adenocarcinoma(143;0.0587)		12	5496	+	A	A			Missense_Mutation	1777			Alpha-type protein kinase.			
ALPK3	57538		GRCh37	15	85383056	85383056	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000258888.5:c.1152C>T	p.Phe384=	p.F384=	ENST00000258888	NM_020778.4	384	ttC/ttT	0																																																																																																																																																																																																																																												
ALPP	0	broad.mit.edu	GRCh37	2	233246043	233246043	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392027.2:c.1275C>T	p.Asp425=	p.D425=	ENST00000392027	NM_001632.3	425	gaC/gaT	0			1			T	D	uc002vsq.2	protein_coding	YES	CCDS2490.1			1275/1608									ovary(1)	1	c.(1273-1275)GAC>GAT			hmmpanther:PTHR11596,hmmpanther:PTHR11596:SF31,Gene3D:3.40.720.10,Pfam_domain:PF00245,SMART_domains:SM00098,Superfamily_domains:SSF53649	placental alkaline phosphatase preproprotein				ENSP00000375881		11-Oct									COSM3407659	11-Oct	.		ENST00000392027	Transcript				anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	ENSG00000163283	g.chr2:233246043C>T	439			LOW								--	--	1																																		ALPP_uc002vsr.2_RNA	1	1			p.D425D	NM_001632	NP_001623			1	PPB1_HUMAN	ALPP	HGNC	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)			10	1440	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	UPI0000131FF9	425					SNV	ALPP,synonymous_variant,p.=,ENST00000392027,NM_001632.3;AC068134.8,intron_variant,,ENST00000441266,;AC068134.8,upstream_gene_variant,,ENST00000439072,;ECEL1P2,downstream_gene_variant,,ENST00000461596,;ALPP,non_coding_transcript_exon_variant,,ENST00000485563,;ALPP,downstream_gene_variant,,ENST00000474529,;	uc002vsq.2	c.1275C>T	1544/2971	2	2			c.1275C>T						2	SNP	c.(1273-1275)GAC>GAT	34	34			ovary(1)	1	Broad	placental alkaline phosphatase preproprotein			233246043		0.697	ENSG00000163283	543	g.chr2:233246043C>T		anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding							2.374771	KEEP	8	11	-1	68	69	8	11	-1	22.225318	68	69	0.086957	1	0	0	0	0	0	0	1	0	--	--		0	T			ALPP_uc002vsr.2_RNA	138	GBM-14-0813-TP	p.D425D	C	TGCTCAAGGACGGCGCCCGGC	NM_001632	NP_001623	233246043	P05187	PPB1_HUMAN	0		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	10	1440	+	T	T		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	Silent	425						
ALPP	0	broad.mit.edu	GRCh37	2	233245025	233245025	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01	TCGA-41-4097-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392027.2:c.787C>T	p.Arg263Cys	p.R263C	ENST00000392027	NM_001632.3	263	Cgc/Tgc	0			1			T	R/C	uc002vsq.2	protein_coding	YES	CCDS2490.1			787/1608									ovary(1)	1	c.(787-789)CGC>TGC			hmmpanther:PTHR11596,hmmpanther:PTHR11596:SF31,Gene3D:3.40.720.10,Pfam_domain:PF00245,SMART_domains:SM00098,Superfamily_domains:SSF53649	placental alkaline phosphatase preproprotein				ENSP00000375881		11-Jun	0.000132	9.67E-05				0.000166		0.000242	rs201259070,COSM477074	11-Jun	.		ENST00000392027	Transcript				anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	ENSG00000163283	g.chr2:233245025C>T	439			MODERATE		2.445	medium	getma.org/?cm=msa&ty=f&p=PPB1_HUMAN&rb=55&re=490&var=R263C	getma.org/pdb.php?prot=PPB1_HUMAN&from=55&to=490&var=R263C	getma.org/?cm=var&var=hg19,2,233245025,C,T&fts=all	R263C	--	--	1																																		ALPP_uc002vsr.2_5'Flank	0,1	1		possibly_damaging(0.706)	p.R263C	NM_001632	NP_001623		deleterious(0.02)	0,1	PPB1_HUMAN	ALPP	HGNC	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)			6	952	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	UPI0000131FF9	263					SNV	ALPP,missense_variant,p.Arg263Cys,ENST00000392027,NM_001632.3;AC068134.8,intron_variant,,ENST00000441266,;AC068134.8,intron_variant,,ENST00000439072,;ALPP,upstream_gene_variant,,ENST00000485563,;ALPP,downstream_gene_variant,,ENST00000474529,;	uc002vsq.2	c.787C>T	1056/2971	2	2			c.787C>T						2	SNP	c.(787-789)CGC>TGC	36	36			ovary(1)	1	Broad	placental alkaline phosphatase preproprotein			233245025		0.667	ENSG00000163283	543	g.chr2:233245025C>T		anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding							28.837084	KEEP	4	20	-1	67	100	4	20	-1	54.168692	67	100	0.118644	1	0	0	0	0	1	0	0	0	--	--		0	T			ALPP_uc002vsr.2_5'Flank	257	GBM-41-4097-TP	p.R263C	C	GCTGGCGAAGCGCCAGGTGAT	NM_001632	NP_001623	233245025	P05187	PPB1_HUMAN	0		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	6	952	+	T	T		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	Missense_Mutation	263						
ALPP	250		GRCh37	2	233243529	233243531	+	inframe_deletion	In_Frame_Del	DEL	TGC	TGC	-			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000392027.2:c.37_39del	p.Leu13del	p.L13del	ENST00000392027	NM_001632.3	6	aTGCtg/atg	0																																																																																																																																																																																																																																												
ALPPL2	0	broad.mit.edu	GRCh37	2	233272379	233272379	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0686-01	TCGA-06-0686-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295453.3:c.376T>C	p.Phe126Leu	p.F126L	ENST00000295453	NM_031313.2	126	Ttc/Ctc	0			1			C	F/L	uc002vss.3	protein_coding	YES	CCDS2491.1			376/1599									skin(1)	1	c.(376-378)TTC>CTC			hmmpanther:PTHR11596:SF34,hmmpanther:PTHR11596,Gene3D:3.40.720.10,Pfam_domain:PF00245,SMART_domains:SM00098,Superfamily_domains:SSF53649	placental-like alkaline phosphatase	Amifostine(DB01143)|Levamisole(DB00848)			ENSP00000295453		11-Apr									COSM2151541	11-Apr	.		ENST00000295453	Transcript			phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	ENSG00000163286	g.chr2:233272379T>C	441			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=PPBN_HUMAN&rb=52&re=487&var=F126L	getma.org/pdb.php?prot=PPBN_HUMAN&from=52&to=487&var=F126L	getma.org/?cm=var&var=hg19,2,233272379,T,C&fts=all	F126L	--	--	1																																			1	1		benign(0.017)	p.F126L	NM_031313	NP_112603		tolerated(0.42)	1	PPBN_HUMAN	ALPPL2	HGNC	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)			4	429	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	UPI000013E259	126					SNV	ALPPL2,missense_variant,p.Phe126Leu,ENST00000295453,NM_031313.2;	uc002vss.3	c.376T>C	428/2493	3	3			c.376T>C						2	SNP	c.(376-378)TTC>CTC	63	63			skin(1)	1	Broad	placental-like alkaline phosphatase		Amifostine(DB01143)|Levamisole(DB00848)	233272379		0.582	ENSG00000163286	544	g.chr2:233272379T>C	phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding							58.361608	KEEP	12	12	-1	23	22	12	12	-1	59.3744	23	22	0.346939	1	0	0	0	0	1	0	0	0	--	--		0	C				64	GBM-06-0686-TP	p.F126L	T	CAAGGGCAACTTCCAGACCAT	NM_031313	NP_112603	233272379	P10696	PPBN_HUMAN	0		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	4	429	+	C	C		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	Missense_Mutation	126						
ALPPL2	0	broad.mit.edu	GRCh37	2	233274348	233274348	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-1450-01	TCGA-14-1450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295453.3:c.1365C>T	p.Asp455=	p.D455=	ENST00000295453	NM_031313.2	455	gaC/gaT	0			1			T	D	uc002vss.3	protein_coding	YES	CCDS2491.1			1365/1599									skin(1)	1	c.(1363-1365)GAC>GAT			hmmpanther:PTHR11596:SF34,hmmpanther:PTHR11596,Gene3D:3.40.720.10,Pfam_domain:PF00245,SMART_domains:SM00098,Superfamily_domains:SSF53649	placental-like alkaline phosphatase	Amifostine(DB01143)|Levamisole(DB00848)			ENSP00000295453		11-Nov									COSM3407661	11-Nov	.		ENST00000295453	Transcript			phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	ENSG00000163286	g.chr2:233274348C>T	441			LOW								--	--	1																																			1	1			p.D455D	NM_031313	NP_112603			1	PPBN_HUMAN	ALPPL2	HGNC	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)			11	1418	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	UPI000013E259	455					SNV	ALPPL2,synonymous_variant,p.=,ENST00000295453,NM_031313.2;	uc002vss.3	c.1365C>T	1417/2493	2	2			c.1365C>T						2	SNP	c.(1363-1365)GAC>GAT	40	40			skin(1)	1	Broad	placental-like alkaline phosphatase		Amifostine(DB01143)|Levamisole(DB00848)	233274348		0.662	ENSG00000163286	544	g.chr2:233274348C>T	phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding							26.811234	KEEP	4	8	-1	8	22	4	8	-1	27.886063	8	22	0.314286	1	0	0	0	0	0	0	1	0	--	--		0	T				145	GBM-14-1450-TP	p.D455D	C	CAGGCGAGGACGTGGCGGTGT	NM_031313	NP_112603	233274348	P10696	PPBN_HUMAN	0		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	11	1418	+	T	T		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	Silent	455						
ALPPL2	0	broad.mit.edu	GRCh37	2	233274433	233274433	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1456-01	TCGA-14-1456-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295453.3:c.1450G>A	p.Ala484Thr	p.A484T	ENST00000295453	NM_031313.2	484	Gcc/Acc	0			1			A	A/T	uc002vss.3	protein_coding	YES	CCDS2491.1			1450/1599									skin(1)	1	c.(1450-1452)GCC>ACC			hmmpanther:PTHR11596:SF34,hmmpanther:PTHR11596,Gene3D:3.40.720.10,Pfam_domain:PF00245,SMART_domains:SM00098,Superfamily_domains:SSF53649	placental-like alkaline phosphatase	Amifostine(DB01143)|Levamisole(DB00848)			ENSP00000295453		11-Nov									COSM3407663	11-Nov	.		ENST00000295453	Transcript			phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	ENSG00000163286	g.chr2:233274433G>A	441			MODERATE		3.715	high	getma.org/?cm=msa&ty=f&p=PPBN_HUMAN&rb=52&re=487&var=A484T	getma.org/pdb.php?prot=PPBN_HUMAN&from=52&to=487&var=A484T	getma.org/?cm=var&var=hg19,2,233274433,G,A&fts=all	A484T	--	--	1																																			1	1		probably_damaging(0.994)	p.A484T	NM_031313	NP_112603		deleterious(0)	1	PPBN_HUMAN	ALPPL2	HGNC	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)			11	1503	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	UPI000013E259	484					SNV	ALPPL2,missense_variant,p.Ala484Thr,ENST00000295453,NM_031313.2;	uc002vss.3	c.1450G>A	1502/2493	2	2			c.1450G>A						2	SNP	c.(1450-1452)GCC>ACC	41	41			skin(1)	1	Broad	placental-like alkaline phosphatase		Amifostine(DB01143)|Levamisole(DB00848)	233274433		0.751	ENSG00000163286	544	g.chr2:233274433G>A	phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding							1.312746	KEEP	3	0	-1	17	20	3	0	-1	6.612163	17	20	0.09375	1	0	0	0	0	1	0	0	0	--	--		0	A				146	GBM-14-1456-TP	p.A484T	G	CATGGCCTTCGCCGCCTGCCT	NM_031313	NP_112603	233274433	P10696	PPBN_HUMAN	0		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	11	1503	+	A	A		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	Missense_Mutation	484						
ALPPL2	0	broad.mit.edu	GRCh37	2	233274470	233274470	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1837-01	TCGA-27-1837-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295453.3:c.1487C>T	p.Ala496Val	p.A496V	ENST00000295453	NM_031313.2	496	gCg/gTg	0			1			T	A/V	uc002vss.3	protein_coding	YES	CCDS2491.1			1487/1599									skin(1)	1	c.(1486-1488)GCG>GTG			hmmpanther:PTHR11596:SF34,hmmpanther:PTHR11596	placental-like alkaline phosphatase	Amifostine(DB01143)|Levamisole(DB00848)			ENSP00000295453		11-Nov	2.54E-05			0.000135		3.77E-05			rs778702552,COSM3407664	11-Nov	.		ENST00000295453	Transcript			phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	ENSG00000163286	g.chr2:233274470C>T	441			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=PPBN_HUMAN&rb=488&re=532&var=A496V	NA	getma.org/?cm=var&var=hg19,2,233274470,C,T&fts=all	A496V	--	--	1																																			0,1	1		benign(0.002)	p.A496V	NM_031313	NP_112603		tolerated(0.21)	0,1	PPBN_HUMAN	ALPPL2	HGNC	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)			11	1540	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	UPI000013E259	496					SNV	ALPPL2,missense_variant,p.Ala496Val,ENST00000295453,NM_031313.2;	uc002vss.3	c.1487C>T	1539/2493	1	1			c.1487C>T						2	SNP	c.(1486-1488)GCG>GTG	4	4			skin(1)	1	Broad	placental-like alkaline phosphatase		Amifostine(DB01143)|Levamisole(DB00848)	233274470		0.736	ENSG00000163286	544	g.chr2:233274470C>T	phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding							17.620508	KEEP	7	3	-1	9	6	7	3	-1	17.675244	9	6	0.4375	1	0	0	0	0	1	0	0	0	--	--		0	T				196	GBM-27-1837-TP	p.A496V	C	TGCGACCTGGCGCCCCGCGCC	NM_031313	NP_112603	233274470	P10696	PPBN_HUMAN	0		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	11	1540	+	T	T		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	Missense_Mutation	496						
ALPPL2	0	broad.mit.edu	GRCh37	2	233273106	233273106	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01	TCGA-41-4097-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295453.3:c.778C>T	p.His260Tyr	p.H260Y	ENST00000295453	NM_031313.2	260	Cac/Tac	0		T:0	1	T:0		T	H/Y	uc002vss.3	protein_coding	YES	CCDS2491.1			778/1599									skin(1)	1	c.(778-780)CAC>TAC			hmmpanther:PTHR11596:SF34,hmmpanther:PTHR11596,Gene3D:3.40.720.10,Pfam_domain:PF00245,SMART_domains:SM00098,Superfamily_domains:SSF53649	placental-like alkaline phosphatase	Amifostine(DB01143)|Levamisole(DB00848)	T:0		ENSP00000295453	T:0.001	11-Jun	6.60E-05	9.97E-05				0.000109			rs577584936,COSM3407660	11-Jun	.		ENST00000295453	Transcript		T:0.0002	phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	ENSG00000163286	g.chr2:233273106C>T	441			MODERATE		0.335	neutral	getma.org/?cm=msa&ty=f&p=PPBN_HUMAN&rb=52&re=487&var=H260Y	getma.org/pdb.php?prot=PPBN_HUMAN&from=52&to=487&var=H260Y	getma.org/?cm=var&var=hg19,2,233273106,C,T&fts=all	H260Y	--	--	1																																			0,1	1		benign(0.005)	p.H260Y	NM_031313	NP_112603	T:0	tolerated(0.17)	0,1	PPBN_HUMAN	ALPPL2	HGNC	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)			6	831	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	UPI000013E259	260	H -> R (in Ref. 8; AAH14139).				SNV	ALPPL2,missense_variant,p.His260Tyr,ENST00000295453,NM_031313.2;	uc002vss.3	c.778C>T	830/2493	2	2			c.778C>T						2	SNP	c.(778-780)CAC>TAC	47	47			skin(1)	1	Broad	placental-like alkaline phosphatase		Amifostine(DB01143)|Levamisole(DB00848)	233273106		0.662	ENSG00000163286	544	g.chr2:233273106C>T	phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding							-7.19846	KEEP	8	2	-1	40	44	8	2	-1	9.590701	40	44	0.060241	1	0	0	0	0	1	0	0	0	--	--		0	T				257	GBM-41-4097-TP	p.H260Y	C	GCTGGCGAAGCACCAGGTGAT	NM_031313	NP_112603	233273106	P10696	PPBN_HUMAN	0		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	6	831	+	T	T		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	Missense_Mutation	260	H -> R (in Ref. 8; AAH14139).					
ALS2CL	0	broad.mit.edu	GRCh37	3	46720751	46720751	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318962.4:c.1575C>T	p.Asp525=	p.D525=	ENST00000318962	NM_147129.3	525	gaC/gaT	0			1			A	D	uc003cqa.1	protein_coding	YES	CCDS2743.1			1575/2862									breast(2)|central_nervous_system(2)|skin(1)	5	c.(1573-1575)GAC>GAT			Superfamily_domains:0038399,SMART_domains:SM00698,Pfam_domain:PF02493,Gene3D:1h3iA01,hmmpanther:PTHR23084,hmmpanther:PTHR23084:SF114	ALS2 C-terminal like isoform 1				ENSP00000313670		15/26	5.80E-05	0.000254				0.000241		0.000117	rs371656248,COSM3408692	15/26	.		ENST00000318962	Transcript			endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	ENSG00000178038	g.chr3:46720751G>A	20605			LOW								--	--	1																																		ALS2CL_uc003cpx.1_5'Flank|ALS2CL_uc003cpy.1_5'Flank|ALS2CL_uc003cpz.1_Silent_p.D40D|ALS2CL_uc003cqb.1_Silent_p.D525D|ALS2CL_uc003cqc.1_RNA	0,1	1			p.D525D	NM_147129	NP_667340			0,1	AL2CL_HUMAN	ALS2CL	HGNC	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	G3V0I7_HUMAN		15	1765	-			UPI00001B5641	525			MORN 7.		SNV	ALS2CL,synonymous_variant,p.=,ENST00000318962,NM_147129.3;ALS2CL,synonymous_variant,p.=,ENST00000415953,NM_001190707.1;ALS2CL,upstream_gene_variant,,ENST00000383742,NM_182775.2;ALS2CL,missense_variant,p.Thr524Met,ENST00000434140,;ALS2CL,3_prime_UTR_variant,,ENST00000450172,;ALS2CL,3_prime_UTR_variant,,ENST00000431015,;ALS2CL,3_prime_UTR_variant,,ENST00000423707,;ALS2CL,upstream_gene_variant,,ENST00000486301,;ALS2CL,upstream_gene_variant,,ENST00000498817,;ALS2CL,upstream_gene_variant,,ENST00000473484,;	uc003cqa.1	c.1575C>T	1659/4741	2	2			c.1575C>T						3	SNP	c.(1573-1575)GAC>GAT	18	18			breast(2)|central_nervous_system(2)|skin(1)	5	Broad	ALS2 C-terminal like isoform 1			46720751		0.627	ENSG00000178038	546	g.chr3:46720751G>A	endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity							25.797335	KEEP	8	3	-1	9	5	8	3	-1	25.900573	9	5	0.421053	1	0	0	0	0	0	0	1	0	--	--		0	A			ALS2CL_uc003cpx.1_5'Flank|ALS2CL_uc003cpy.1_5'Flank|ALS2CL_uc003cpz.1_Silent_p.D40D|ALS2CL_uc003cqb.1_Silent_p.D525D|ALS2CL_uc003cqc.1_RNA	159	GBM-19-1390-TP	p.D525D	G	ACAGGGAGTCGTCTTCAGAGA	NM_147129	NP_667340	46720751	Q60I27	AL2CL_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	15	1765	-	A	A			Silent	525			MORN 7.			
ALS2CR11	0	broad.mit.edu	GRCh37	2	202483659	202483659	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-14-0781-01	TCGA-14-0781-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286195.3:c.195delC	p.Asn65LysfsTer12	p.N65Kfs*12	ENST00000286195	NM_152525.5	65	aaC/aa	0			1			-	N/X	uc002uye.2	protein_coding		CCDS2349.1			195/1872									large_intestine(1)|ovary(1)|skin(1)	3	c.(193-195)AACfs			hmmpanther:PTHR21665,hmmpanther:PTHR21665:SF2	amyotrophic lateral sclerosis 2 (juvenile)				ENSP00000286195		15-Jan										15-Jan	.		ENST00000286195	Transcript						ENSG00000155754	g.chr2:202483659delG	14438			HIGH								--	--	1																																		ALS2CR11_uc002uyf.2_Frame_Shift_Del_p.N65fs|ALS2CR11_uc010fti.2_Frame_Shift_Del_p.N65fs					p.N65fs	NM_152525	NP_689738				AL2SA_HUMAN	ALS2CR11	HGNC	Q53TS8	AL2SA_HUMAN					1	243	-			UPI000013DE33	65					deletion	ALS2CR11,frameshift_variant,p.Asn65LysfsTer12,ENST00000439140,NM_001168221.1;ALS2CR11,frameshift_variant,p.Asn65LysfsTer12,ENST00000450242,NM_001168217.1;ALS2CR11,frameshift_variant,p.Asn65LysfsTer12,ENST00000286195,NM_152525.5;ALS2CR11,frameshift_variant,p.Asn65LysfsTer12,ENST00000439802,NM_001168216.1;TMEM237,downstream_gene_variant,,ENST00000409444,NM_152388.3;TMEM237,downstream_gene_variant,,ENST00000409883,NM_001044385.2;TMEM237,downstream_gene_variant,,ENST00000471318,;TMEM237,downstream_gene_variant,,ENST00000495329,;TMEM237,downstream_gene_variant,,ENST00000286196,;ENO1P4,downstream_gene_variant,,ENST00000416471,;	uc002uye.2	c.195delC	240/2104	5	5			c.195delC						2	DEL	c.(193-195)AACfs	19	19			large_intestine(1)|ovary(1)|skin(1)	3	Broad	amyotrophic lateral sclerosis 2 (juvenile)			202483659		0.657	ENSG00000155754	547	g.chr2:202483659delG																							0.16	1	1	0	1	0	0	0	0	0	--	--		0	-			ALS2CR11_uc002uyf.2_Frame_Shift_Del_p.N65fs|ALS2CR11_uc010fti.2_Frame_Shift_Del_p.N65fs	133	GBM-14-0781-TP	p.N65fs	G	CCTGGTTCTTGTTCTTAGGCA	NM_152525	NP_689738	202483659	Q53TS8	AL2SA_HUMAN	0			1	243	-	-	-			Frame_Shift_Del	65						
ALS2CR11	0	broad.mit.edu	GRCh37	2	202483675	202483675	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0787-01	TCGA-14-0787-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286195.3:c.179C>T	p.Thr60Met	p.T60M	ENST00000286195	NM_152525.5	60	aCg/aTg	0			1			A	T/M	uc002uye.2	protein_coding		CCDS2349.1			179/1872									large_intestine(1)|ovary(1)|skin(1)	3	c.(178-180)ACG>ATG			hmmpanther:PTHR21665,hmmpanther:PTHR21665:SF2	amyotrophic lateral sclerosis 2 (juvenile)				ENSP00000286195		15-Jan									COSM2907473,COSM2907472,COSM2907474	15-Jan	.		ENST00000286195	Transcript						ENSG00000155754	g.chr2:202483675G>A	14438			MODERATE		-0.41	neutral	getma.org/?cm=msa&ty=f&p=AL2SA_HUMAN&rb=1&re=621&var=T60M	NA	getma.org/?cm=var&var=hg19,2,202483675,G,A&fts=all	T60M	--	--	1																																		ALS2CR11_uc002uyf.2_Missense_Mutation_p.T60M|ALS2CR11_uc010fti.2_Missense_Mutation_p.T60M	1,1,1			benign(0.001)	p.T60M	NM_152525	NP_689738		tolerated(0.28)	1,1,1	AL2SA_HUMAN	ALS2CR11	HGNC	Q53TS8	AL2SA_HUMAN					1	227	-			UPI000013DE33	60					SNV	ALS2CR11,missense_variant,p.Thr60Met,ENST00000439140,NM_001168221.1;ALS2CR11,missense_variant,p.Thr60Met,ENST00000450242,NM_001168217.1;ALS2CR11,missense_variant,p.Thr60Met,ENST00000286195,NM_152525.5;ALS2CR11,missense_variant,p.Thr60Met,ENST00000439802,NM_001168216.1;TMEM237,downstream_gene_variant,,ENST00000409444,NM_152388.3;TMEM237,downstream_gene_variant,,ENST00000409883,NM_001044385.2;TMEM237,downstream_gene_variant,,ENST00000471318,;TMEM237,downstream_gene_variant,,ENST00000495329,;TMEM237,downstream_gene_variant,,ENST00000286196,;ENO1P4,downstream_gene_variant,,ENST00000416471,;	uc002uye.2	c.179C>T	224/2104	2	2			c.179C>T						2	SNP	c.(178-180)ACG>ATG	46	46			large_intestine(1)|ovary(1)|skin(1)	3	Broad	amyotrophic lateral sclerosis 2 (juvenile)			202483675		0.642	ENSG00000155754	547	g.chr2:202483675G>A										171.774757	KEEP	36	30	-1	55	41	36	30	-1	172.658204	55	41	0.414286	1	0	0	0	0	1	0	0	0	--	--		0	A			ALS2CR11_uc002uyf.2_Missense_Mutation_p.T60M|ALS2CR11_uc010fti.2_Missense_Mutation_p.T60M	135	GBM-14-0787-TP	p.T60M	G	AGGCAGGGCCGTCGTGCCCTG	NM_152525	NP_689738	202483675	Q53TS8	AL2SA_HUMAN	0			1	227	-	A	A			Missense_Mutation	60						
ALS2CR12	0	broad.mit.edu	GRCh37	2	202216040	202216040	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs143899839		TCGA-27-2527-01	TCGA-27-2527-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286190.5:c.88C>T	p.Arg30Cys	p.R30C	ENST00000286190		30	Cgc/Tgc	0	A:0.0005		1			A	R/C	uc010ftg.2	protein_coding		CCDS2346.1			88/1338									ovary(1)|breast(1)|central_nervous_system(1)	3	c.(88-90)CGC>TGC			hmmpanther:PTHR21707:SF38,hmmpanther:PTHR21707	amyotrophic lateral sclerosis 2 (juvenile)			A:0	ENSP00000286190		14-Jan	4.94E-05	0.000386		0.000116		1.51E-05			rs143899839,COSM1182645	14-Jan	.		ENST00000286190	Transcript			regulation of GTPase activity		protein binding	ENSG00000155749	g.chr2:202216040G>A	14439			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=AL2SB_HUMAN&rb=1&re=289&var=R30C	NA	getma.org/?cm=var&var=hg19,2,202216040,G,A&fts=all	R30C	--	--	1																																		ALS2CR12_uc002uya.3_Missense_Mutation_p.R30C|ALS2CR12_uc010fth.2_RNA	0,1			benign(0.002)	p.R30C	NM_139163	NP_631902		tolerated(0.07)	0,1	AL2SB_HUMAN	ALS2CR12	HGNC	Q96Q35	AL2SB_HUMAN			C9JTY0_HUMAN		2	532	-			UPI00001AEADD	30					SNV	ALS2CR12,missense_variant,p.Arg30Cys,ENST00000405148,NM_139163.2;ALS2CR12,missense_variant,p.Arg30Cys,ENST00000392257,NM_001127391.1;ALS2CR12,missense_variant,p.Arg30Cys,ENST00000286190,;ALS2CR12,missense_variant,p.Arg30Cys,ENST00000439709,;ALS2CR12,missense_variant,p.Arg30Cys,ENST00000418364,;ALS2CR12,upstream_gene_variant,,ENST00000425488,;ALS2CR12,non_coding_transcript_exon_variant,,ENST00000448967,;ALS2CR12,non_coding_transcript_exon_variant,,ENST00000494171,;	uc010ftg.2	c.88C>T	135/1769	2	2			c.88C>T						2	SNP	c.(88-90)CGC>TGC	22	22			ovary(1)|breast(1)|central_nervous_system(1)	3	Broad	amyotrophic lateral sclerosis 2 (juvenile)			202216040		0.517	ENSG00000155749	548	g.chr2:202216040G>A	regulation of GTPase activity		protein binding							21.613027	KEEP	12	2	-1	48	41	12	2	-1	33.266878	48	41	0.139785	1	0	0	0	0	1	0	0	0	--	--		0	A			ALS2CR12_uc002uya.3_Missense_Mutation_p.R30C|ALS2CR12_uc010fth.2_RNA	204	GBM-27-2527-TP	p.R30C	G	GAGTTCTTGCGTGGTAGTTGA	NM_139163	NP_631902	202216040	Q96Q35	AL2SB_HUMAN	0			2	532	-	A	A			Missense_Mutation	30						
ALX1	0	broad.mit.edu	GRCh37	12	85695019	85695019	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6391-01	TCGA-06-6391-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316824.3:c.747G>A	p.Met249Ile	p.M249I	ENST00000316824	NM_006982.2	249	atG/atA	0			1			A	M/I	uc001tae.3	protein_coding	YES	CCDS9028.1			747/981									ovary(1)|central_nervous_system(1)	2	c.(745-747)ATG>ATA			hmmpanther:PTHR24329:SF277,hmmpanther:PTHR24329	cartilage paired-class homeoprotein 1				ENSP00000315417		4-Apr										4-Apr	.		ENST00000316824	Transcript	1		brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	ENSG00000180318	g.chr12:85695019G>A	1494			MODERATE		1.73	low	getma.org/?cm=msa&ty=f&p=ALX1_HUMAN&rb=190&re=300&var=M249I	NA	getma.org/?cm=var&var=hg19,12,85695019,G,A&fts=all	M249I	--	--	1																																				1		benign(0.023)	p.M249I	NM_006982	NP_008913		deleterious(0.02)		ALX1_HUMAN	ALX1	HGNC	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)			4	751	+			UPI000013FEBD	249					SNV	ALX1,missense_variant,p.Met249Ile,ENST00000316824,NM_006982.2;	uc001tae.3	c.747G>A	902/1445	1	1			c.747G>A						12	SNP	c.(745-747)ATG>ATA	60	60			ovary(1)|central_nervous_system(1)	2	Broad	cartilage paired-class homeoprotein 1			85695019		0.453	ENSG00000180318	551	g.chr12:85695019G>A	brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity							3.716007	KEEP	10	7	-1	92	102	10	7	-1	36.329051	92	102	0.089005	1	0	0	0	0	1	0	0	0	--	--		0	A				107	GBM-06-6391-TP	p.M249I	G	CCTCCTGTATGACACCTTATT	NM_006982	NP_008913	85695019	Q15699	ALX1_HUMAN	0		GBM - Glioblastoma multiforme(134;0.134)	4	751	+	A	A			Missense_Mutation	249						
ALX1	8092		GRCh37	12	85695206	85695206	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000316824.3:c.934C>T	p.Arg312Ter	p.R312*	ENST00000316824	NM_006982.2	312	Cga/Tga	0																																																																																																																																																																																																																																												
ALX4	0	broad.mit.edu	GRCh37	11	44297101	44297101	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-28-1747-01	TCGA-28-1747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329255.3:c.574delG	p.Asp192ThrfsTer58	p.D192Tfs*58	ENST00000329255	NM_021926.3	192	Gac/ac	0			1			-	D/X	uc001myb.2	protein_coding	YES	CCDS31468.1			574/1236										0	c.(574-576)GACfs			hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF285	aristaless-like homeobox 4				ENSP00000332744		4-Feb										4-Feb	.		ENST00000329255	Transcript	1		hair follicle development			ENSG00000052850	g.chr11:44297101delC	450			HIGH								--	--	1																																				1			p.D192fs	NM_021926	NP_068745				ALX4_HUMAN	ALX4	HGNC	Q9H161	ALX4_HUMAN					2	678	-			UPI000016A402	192					deletion	ALX4,frameshift_variant,p.Asp192ThrfsTer58,ENST00000329255,NM_021926.3;	uc001myb.2	c.574delG	678/5750	5	5			c.574delG						11	DEL	c.(574-576)GACfs	55	55				0	Broad	aristaless-like homeobox 4			44297101		0.632	ENSG00000052850	553	g.chr11:44297101delC	hair follicle development																						0.36	1	1	0	1	0	0	0	0	0	--	--		0	-				206	GBM-28-1747-TP	p.D192fs	C	CTGGCCCGGTCCTGGGGCCCC	NM_021926	NP_068745	44297101	Q9H161	ALX4_HUMAN	0			2	678	-	-	-			Frame_Shift_Del	192						
ALX4	0	broad.mit.edu	GRCh37	11	44331575	44331575	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329255.3:c.38C>T	p.Pro13Leu	p.P13L	ENST00000329255	NM_021926.3	13	cCg/cTg	0			1			A	P/L	uc001myb.2	protein_coding	YES	CCDS31468.1			38/1236										0	c.(37-39)CCG>CTG			hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF285	aristaless-like homeobox 4				ENSP00000332744		4-Jan									COSM3397683	4-Jan	.		ENST00000329255	Transcript	1		hair follicle development			ENSG00000052850	g.chr11:44331575G>A	450			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=ALX4_HUMAN&rb=1&re=48&var=P13L	NA	getma.org/?cm=var&var=hg19,11,44331575,G,A&fts=all	P13L	--	--	1																																			1	1		probably_damaging(0.982)	p.P13L	NM_021926	NP_068745		deleterious_low_confidence(0.02)	1	ALX4_HUMAN	ALX4	HGNC	Q9H161	ALX4_HUMAN					1	142	-			UPI000016A402	13					SNV	ALX4,missense_variant,p.Pro13Leu,ENST00000329255,NM_021926.3;	uc001myb.2	c.38C>T	142/5750	2	2			c.38C>T						11	SNP	c.(37-39)CCG>CTG	47	47				0	Broad	aristaless-like homeobox 4			44331575		0.682	ENSG00000052850	553	g.chr11:44331575G>A	hair follicle development									14.872129	KEEP	2	5	-1	2	7	2	5	-1	15.023793	2	7	0.384615	1	0	0	0	0	1	0	0	0	--	--		0	A				249	GBM-32-5222-TP	p.P13L	G	GGCAGCGGCCGGCGACTCGCA	NM_021926	NP_068745	44331575	Q9H161	ALX4_HUMAN	0			1	142	-	A	A			Missense_Mutation	13						
AMBN	258		GRCh37	4	71472354	71472354	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000322937.6:c.1251G>A	p.Thr417=	p.T417=	ENST00000322937	NM_016519.5	417	acG/acA	0																																																																																																																																																																																																																																												
AMBRA1	55626	broad.mit.edu	GRCh37	11	46568697	46568697	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-2570-01	TCGA-06-2570-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314845.3:c.344G>T	p.Cys115Phe	p.C115F	ENST00000314845	NM_017749.3	115	tGc/tTc	0			1			A	C/F	uc010rgu.1	protein_coding					344/3897									large_intestine(1)|ovary(1)|central_nervous_system(1)	3	c.(343-345)TGC>TTC			Superfamily_domains:SSF50978,SMART_domains:SM00320,Pfam_domain:PF00400,Gene3D:2.130.10.10,PROSITE_patterns:PS00678,hmmpanther:PTHR22874:SF1,hmmpanther:PTHR22874,PROSITE_profiles:PS50294,PROSITE_profiles:PS50082	activating molecule in beclin-1-regulated				ENSP00000415327		18-Apr									COSM2153106,COSM2153107	18-Apr	.		ENST00000458649	Transcript			autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		ENSG00000110497	g.chr11:46568697C>A	25990			MODERATE		1.53	low	getma.org/?cm=msa&ty=f&p=AMRA1_HUMAN&rb=85&re=124&var=C115F	getma.org/pdb.php?prot=AMRA1_HUMAN&from=85&to=124&var=C115F	getma.org/?cm=var&var=hg19,11,46568697,C,A&fts=all	C115F	--	--	1																																		AMBRA1_uc009ylc.1_Missense_Mutation_p.C115F|AMBRA1_uc001ncu.1_Missense_Mutation_p.C115F|AMBRA1_uc001ncv.2_Missense_Mutation_p.C115F|AMBRA1_uc001ncw.2_Missense_Mutation_p.C115F|AMBRA1_uc001ncx.2_Missense_Mutation_p.C115F	1,1			probably_damaging(0.998)	p.C115F	NM_017749	NP_060219		deleterious_low_confidence(0)	1,1	AMRA1_HUMAN	AMBRA1	HGNC	Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	E9PL55_HUMAN		4	704	-			UPI0001627788	115			WD 2.		SNV	AMBRA1,missense_variant,p.Cys115Phe,ENST00000458649,;AMBRA1,missense_variant,p.Cys115Phe,ENST00000426438,;AMBRA1,missense_variant,p.Cys115Phe,ENST00000298834,;AMBRA1,missense_variant,p.Cys115Phe,ENST00000534300,NM_001267782.1;AMBRA1,missense_variant,p.Cys115Phe,ENST00000314845,NM_017749.3;AMBRA1,missense_variant,p.Cys115Phe,ENST00000533727,NM_001267783.1;AMBRA1,missense_variant,p.Cys115Phe,ENST00000528950,;AMBRA1,downstream_gene_variant,,ENST00000526606,;AMBRA1,non_coding_transcript_exon_variant,,ENST00000524783,;AMBRA1,intron_variant,,ENST00000531542,;	uc010rgu.1	c.344G>T	763/5351	1	1			c.344G>T						11	SNP	c.(343-345)TGC>TTC	62	62			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Broad	activating molecule in beclin-1-regulated			46568697		0.408	ENSG00000110497	560	g.chr11:46568697C>A	autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle								249.396133	KEEP	38	44	0.536585366	10	13	38	44	0.536585366	255.850175	10	13	0.770833	1	0	0	0	0	1	0	0	0	--	--		0	A			AMBRA1_uc009ylc.1_Missense_Mutation_p.C115F|AMBRA1_uc001ncu.1_Missense_Mutation_p.C115F|AMBRA1_uc001ncv.2_Missense_Mutation_p.C115F|AMBRA1_uc001ncw.2_Missense_Mutation_p.C115F|AMBRA1_uc001ncx.2_Missense_Mutation_p.C115F	91	GBM-06-2570-TP	p.C115F	C	CCCATCTAGGCAGCCAGAAGC	NM_017749	NP_060219	46568697	Q9C0C7	AMRA1_HUMAN	0		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	4	704	-	A	A			Missense_Mutation	115			WD 2.			
AMBRA1	0	broad.mit.edu	GRCh37	11	46439460	46439461	+	splice_region_variant,intron_variant	Splice_Region	INS	-	-	A			TCGA-06-6700-01	TCGA-06-6700-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000458649.2:c.3116+2dupT		p.X1039_splice	ENST00000458649				0			1			A		uc010rgu.1	protein_coding					-/3897									large_intestine(1)|ovary(1)|central_nervous_system(1)	3	c.e15+1				activating molecule in beclin-1-regulated				ENSP00000415327													.		ENST00000458649	Transcript			autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		ENSG00000110497	g.chr11:46439460_46439461insA	25990			LOW	15/17							--	--	1																																		AMBRA1_uc010rgt.1_Splice_Site_p.E605_splice|AMBRA1_uc009ylc.1_Splice_Site_p.E1010_splice|AMBRA1_uc001ncu.1_Splice_Site_p.E949_splice|AMBRA1_uc001ncv.2_Splice_Site_p.E1042_splice|AMBRA1_uc001ncw.2_Splice_Site_p.E920_splice|AMBRA1_uc001ncx.2_Splice_Site_p.E979_splice					p.E1039_splice	NM_017749	NP_060219				AMRA1_HUMAN	AMBRA1	HGNC	Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	E9PL55_HUMAN		15	3476	-			UPI0001627788						insertion	AMBRA1,splice_region_variant,,ENST00000458649,;AMBRA1,splice_region_variant,,ENST00000426438,;AMBRA1,splice_region_variant,,ENST00000298834,;AMBRA1,splice_region_variant,,ENST00000534300,NM_001267782.1;AMBRA1,splice_region_variant,,ENST00000314845,NM_017749.3;AMBRA1,splice_region_variant,,ENST00000533727,NM_001267783.1;AMBRA1,splice_region_variant,,ENST00000528950,;AMBRA1,splice_region_variant,,ENST00000526545,;	uc010rgu.1	c.3116_splice	-/5351	5	5			c.3116_splice						11	INS	c.e15+1	1	1			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Broad	activating molecule in beclin-1-regulated			46439461		0.525	ENSG00000110497	560	g.chr11:46439460_46439461insA	autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle																					0.24	1	0	0	1	1	0	0	0	1	--	--		0	A			AMBRA1_uc010rgt.1_Splice_Site_p.E605_splice|AMBRA1_uc009ylc.1_Splice_Site_p.E1010_splice|AMBRA1_uc001ncu.1_Splice_Site_p.E949_splice|AMBRA1_uc001ncv.2_Splice_Site_p.E1042_splice|AMBRA1_uc001ncw.2_Splice_Site_p.E920_splice|AMBRA1_uc001ncx.2_Splice_Site_p.E979_splice	114	GBM-06-6700-TP	p.E1039_splice	-	TTAAGCCACTTACTCTGGTCGG	NM_017749	NP_060219	46439460	Q9C0C7	AMRA1_HUMAN	0		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	15	3476	-	A	A			Splice_Site							
AMD1	262	broad.mit.edu	GRCh37	6	111214026	111214026	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6389-01	TCGA-06-6389-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368885.3:c.704C>T	p.Ser235Leu	p.S235L	ENST00000368885	NM_001634.4	235	tCg/tTg	0			1			T	S/L	uc003puk.1	protein_coding	YES	CCDS5086.1			704/1005									upper_aerodigestive_tract(1)	1	c.(703-705)TCG>TTG			Superfamily_domains:SSF56276,PIRSF_domain:PIRSF001355,Gene3D:3.60.90.10,Pfam_domain:PF01536,TIGRFAM_domain:TIGR00535,hmmpanther:PTHR11570	adenosylmethionine decarboxylase 1 isoform 1	S-Adenosylmethionine(DB00118)			ENSP00000357880		9-Jul									rs753517621,COSM1439758	9-Jul	.		ENST00000368885	Transcript			spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity	ENSG00000123505	g.chr6:111214026C>T	457			MODERATE		2.165	medium	getma.org/?cm=msa&ty=f&p=DCAM_HUMAN&rb=2&re=329&var=S235L	getma.org/pdb.php?prot=DCAM_HUMAN&from=2&to=329&var=S235L	getma.org/?cm=var&var=hg19,6,111214026,C,T&fts=all	S235L	--	--	1																																		AMD1_uc011eay.1_Missense_Mutation_p.S166L|AMD1_uc011eaz.1_Missense_Mutation_p.S206L|AMD1_uc011eba.1_Missense_Mutation_p.S115L|AMD1_uc003pul.1_Missense_Mutation_p.S87L	0,1	1		benign(0.016)	p.S235L	NM_001634	NP_001625		tolerated(0.23)	0,1	DCAM_HUMAN	AMD1	HGNC	P17707	DCAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	Q5VXN5_HUMAN		7	1026	+		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)	UPI0000140D27	235					SNV	AMD1,missense_variant,p.Ser235Leu,ENST00000368885,NM_001634.4,NM_001287215.1;AMD1,missense_variant,p.Ser87Leu,ENST00000368882,NM_001033059.1;AMD1,missense_variant,p.Ser166Leu,ENST00000368876,NM_001287214.1;AMD1,missense_variant,p.Ser206Leu,ENST00000368877,;AMD1,missense_variant,p.Ser115Leu,ENST00000451850,;AMD1,upstream_gene_variant,,ENST00000465404,;	uc003puk.1	c.704C>T	1040/3438	2	2			c.704C>T						6	SNP	c.(703-705)TCG>TTG	33	33			upper_aerodigestive_tract(1)	1	Broad	adenosylmethionine decarboxylase 1 isoform 1		S-Adenosylmethionine(DB00118)	111214026		0.388	ENSG00000123505	561	g.chr6:111214026C>T	spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity							52.969187	KEEP	12	12	-1	43	57	12	12	-1	62.587787	43	57	0.2	1	0	0	0	0	1	0	0	0	--	--		0	T			AMD1_uc011eay.1_Missense_Mutation_p.S166L|AMD1_uc011eaz.1_Missense_Mutation_p.S206L|AMD1_uc011eba.1_Missense_Mutation_p.S115L|AMD1_uc003pul.1_Missense_Mutation_p.S87L	105	GBM-06-6389-TP	p.S235L	C	GGAATGAAATCGGATGTGAGT	NM_001634	NP_001625	111214026	P17707	DCAM_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	7	1026	+	T	T		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)	Missense_Mutation	235						
AMDHD1	144193	broad.mit.edu	GRCh37	12	96348739	96348739	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0211-01	TCGA-06-0211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266736.2:c.295G>A	p.Glu99Lys	p.E99K	ENST00000266736	NM_152435.2	99	Gaa/Aaa	0			1			A	E/K	uc001tel.1	protein_coding	YES	CCDS9057.1			295/1281									central_nervous_system(1)	1	c.(295-297)GAA>AAA			hmmpanther:PTHR22642,hmmpanther:PTHR22642:SF1,Gene3D:3.20.20.140,Pfam_domain:PF13147,TIGRFAM_domain:TIGR01224,Superfamily_domains:SSF51556	amidohydrolase domain containing 1				ENSP00000266736		9-Mar	1.65E-05		0.000173						rs758223660,COSM3399200	9-Mar	.		ENST00000266736	Transcript			histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding	ENSG00000139344	g.chr12:96348739G>A	28577			MODERATE		4.185	high	getma.org/?cm=msa&ty=f&p=HUTI_HUMAN&rb=73&re=392&var=E99K	getma.org/pdb.php?prot=HUTI_HUMAN&from=73&to=392&var=E99K	getma.org/?cm=var&var=hg19,12,96348739,G,A&fts=all	E99K	--	--	1																																		AMDHD1_uc009zth.1_Intron	0,1	1		probably_damaging(1)	p.E99K	NM_152435	NP_689648		deleterious(0)	0,1	HUTI_HUMAN	AMDHD1	HGNC	Q96NU7	HUTI_HUMAN					3	401	+			UPI000013D70B	99					SNV	AMDHD1,missense_variant,p.Glu99Lys,ENST00000266736,NM_152435.2;AMDHD1,5_prime_UTR_variant,,ENST00000553023,;AMDHD1,intron_variant,,ENST00000548310,;AMDHD1,upstream_gene_variant,,ENST00000549171,;	uc001tel.1	c.295G>A	401/2136	2	2			c.295G>A						12	SNP	c.(295-297)GAA>AAA	24	24			central_nervous_system(1)	1	Broad	amidohydrolase domain containing 1			96348739		0.358	ENSG00000139344	562	g.chr12:96348739G>A	histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding							-15.592768	KEEP	2	2	-1	58	58	2	2	-1	7.786153	58	58	0.039216	1	0	0	0	0	1	0	0	0	--	--		0	A			AMDHD1_uc009zth.1_Intron	48	GBM-06-0211-TP	p.E99K	G	AAGAGTTCACGAATTTGCAAT	NM_152435	NP_689648	96348739	Q96NU7	HUTI_HUMAN	0			3	401	+	A	A			Missense_Mutation	99						
AMDHD2	0	broad.mit.edu	GRCh37	16	2580611	2580611	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-6173-01	TCGA-26-6173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000567119.1:c.464G>A	p.Arg155His	p.R155H	ENST00000567119	NM_001048212.3	155	cGc/cAc	0	T:0		1			T		uc010uwc.1	protein_coding					-/1230									skin(2)|large_intestine(1)|breast(1)	4	c.(1636-1638)CGC>TGC	912			amidohydrolase domain containing 2 isoform 2			T:0.0001	ENSP00000293971			0.000141		0.000259			0.00021			rs202055274,COSM3402209,COSM3402210		.		ENST00000293971	Transcript			N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity	ENSG00000162066	g.chr16:2580611C>T	24262			MODIFIER								--	--	1																																		AMDHD2_uc010uwd.1_Missense_Mutation_p.R310C|CEMP1_uc002cqr.2_Missense_Mutation_p.R155H	0,1,1				p.R546C	NM_001145815	NP_001139287			0,1,1	NAGA_HUMAN	AMDHD2	HGNC	Q9Y303	NAGA_HUMAN					11	1733	+			UPI000059D2F6	Error:Variant_position_missing_in_Q9Y303_after_alignment					SNV	AMDHD2,missense_variant,p.Arg546Cys,ENST00000413459,NM_001145815.1;CEMP1,missense_variant,p.Arg155His,ENST00000382350,;CEMP1,missense_variant,p.Arg155His,ENST00000567119,NM_001048212.3;AMDHD2,3_prime_UTR_variant,,ENST00000302956,;CEMP1,intron_variant,,ENST00000565480,;AMDHD2,downstream_gene_variant,,ENST00000568263,;AMDHD2,downstream_gene_variant,,ENST00000293971,NM_015944.3;AMDHD2,downstream_gene_variant,,ENST00000566706,;AMDHD2,downstream_gene_variant,,ENST00000569879,;ATP6C,downstream_gene_variant,,ENST00000569317,;AMDHD2,downstream_gene_variant,,ENST00000563556,;MIR3178,downstream_gene_variant,,ENST00000581887,;AMDHD2,non_coding_transcript_exon_variant,,ENST00000565570,;AMDHD2,downstream_gene_variant,,ENST00000563633,;AMDHD2,downstream_gene_variant,,ENST00000563145,;AMDHD2,downstream_gene_variant,,ENST00000565963,;AMDHD2,downstream_gene_variant,,ENST00000569219,;AMDHD2,downstream_gene_variant,,ENST00000567475,;AMDHD2,downstream_gene_variant,,ENST00000561487,;AMDHD2,downstream_gene_variant,,ENST00000570028,;AMDHD2,downstream_gene_variant,,ENST00000563453,;AMDHD2,downstream_gene_variant,,ENST00000563444,;AMDHD2,downstream_gene_variant,,ENST00000566947,;	uc010uwc.1	c.1636C>T	-/1459	2	2			c.1636C>T						16	SNP	c.(1636-1638)CGC>TGC	20	20			skin(2)|large_intestine(1)|breast(1)	4	Broad	amidohydrolase domain containing 2 isoform 2			2580611		0.567	ENSG00000162066	563	g.chr16:2580611C>T	N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity							72.935972	KEEP	10	19	-1	40	35	10	19	-1	76.295051	40	35	0.302083	1	0	0	0	0	1	0	0	0	--	--		0	T			AMDHD2_uc010uwd.1_Missense_Mutation_p.R310C|CEMP1_uc002cqr.2_Missense_Mutation_p.R155H	187	GBM-26-6173-TP	p.R546C	C	AGGAGGTACGCGCCTGGCTCT	NM_001145815	NP_001139287	2580611	Q9Y303	NAGA_HUMAN	0			11	1733	+	T	T			Missense_Mutation	Error:Variant_position_missing_in_Q9Y303_after_alignment						
AMER1	0	broad.mit.edu	GRCh37	X	63412206	63412206	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-19-1390-01	TCGA-19-1390-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330258.3:c.961delA	p.Ser321AlafsTer5	p.S321Afs*5	ENST00000330258	NM_152424.3	321	Agc/gc	0			1			-	S/X	uc004dvo.2	protein_coding	YES	CCDS14377.2			961/3408								p.0?(40)	kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112	c.(961-963)AGCfs			hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF0,Pfam_domain:PF09422	family with sequence similarity 123B				ENSP00000329117		2-Feb										2-Feb	.		ENST00000330258	Transcript	1		Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		ENSG00000184675	g.chrX:63412206delT	26837			HIGH								--	--	1																																				1			p.S321fs	NM_152424	NP_689637				AMER1_HUMAN	AMER1	HGNC	Q5JTC6	F123B_HUMAN					2	1234	-			UPI0000EDA0FC	321					deletion	AMER1,frameshift_variant,p.Ser321AlafsTer5,ENST00000330258,NM_152424.3;AMER1,frameshift_variant,p.Ser321AlafsTer5,ENST00000374869,;AMER1,frameshift_variant,p.Ser321AlafsTer5,ENST00000403336,;	uc004dvo.2	c.961delA	1234/8443	5	5			c.961delA						23	DEL	c.(961-963)AGCfs	56	56		p.0?(40)	kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112	Broad	family with sequence similarity 123B			63412206		0.522	ENSG00000184675	5336	g.chrX:63412206delT	Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane				85			85														0.3	1	1	0	1	0	0	0	0	0	--	--		0	-				159	GBM-19-1390-TP	p.S321fs	T	GAATCAAAGCTTTTCAGGGAT	NM_152424	NP_689637	63412206	Q5JTC6	F123B_HUMAN	0			2	1234	-	-	-			Frame_Shift_Del	321						
AMER2	219287	broad.mit.edu	GRCh37	13	25745233	25745233	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000515384.1:c.525C>T	p.Asn175=	p.N175=	ENST00000515384		175	aaC/aaT	0			1			A	N	uc001uqb.2	protein_coding	YES	CCDS53859.1			525/2016									ovary(2)|large_intestine(1)|lung(1)	4	c.(523-525)AAC>AAT			Pfam_domain:PF09422,hmmpanther:PTHR22237:SF1,hmmpanther:PTHR22237	hypothetical protein LOC219287 isoform 1				ENSP00000426528		1-Jan									COSM2149724,COSM2149723	1-Jan	.		ENST00000515384	Transcript						ENSG00000165566	g.chr13:25745233G>A	26360			LOW								--	--	1																																		FAM123A_uc001uqa.2_Silent_p.N175N|FAM123A_uc001uqc.2_Silent_p.N175N	1,1	1			p.N175N	NM_152704	NP_689917			1,1	AMER2_HUMAN	AMER2	HGNC	Q8N7J2	F123A_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	Q8N785_HUMAN		1	625	-		Lung SC(185;0.0225)|Breast(139;0.0602)	UPI0000231C76	175					SNV	AMER2,synonymous_variant,p.=,ENST00000357816,;AMER2,synonymous_variant,p.=,ENST00000515384,;AMER2,synonymous_variant,p.=,ENST00000381853,NM_152704.2,NM_199138.1;AMER2-AS1,downstream_gene_variant,,ENST00000413501,;	uc001uqb.2	c.525C>T	1193/3197	2	2			c.525C>T						13	SNP	c.(523-525)AAC>AAT	48	48			ovary(2)|large_intestine(1)|lung(1)	4	Broad	hypothetical protein LOC219287 isoform 1			25745233		0.677	ENSG00000165566	5335	g.chr13:25745233G>A										20.590739	KEEP	2	6	-1	10	6	2	6	-1	20.95192	10	6	0.363636	1	0	0	0	0	0	0	1	0	--	--		0	A			FAM123A_uc001uqa.2_Silent_p.N175N|FAM123A_uc001uqc.2_Silent_p.N175N	23	GBM-06-0145-TP	p.N175N	G	CTCCCTTGCCGTTTTCCGAGC	NM_152704	NP_689917	25745233	Q8N7J2	F123A_HUMAN	0		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	625	-	A	A		Lung SC(185;0.0225)|Breast(139;0.0602)	Silent	175						
AMER3	205147	broad.mit.edu	GRCh37	2	131521578	131521578	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01	TCGA-06-0169-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000423981.1:c.1933C>T	p.Pro645Ser	p.P645S	ENST00000423981	NM_001105194.1	645	Cct/Tct	0		T:0	1	T:0.0014		T	P/S	uc002trw.2	protein_coding		CCDS2164.1			1933/2586									pancreas(2)|ovary(1)	3	c.(1933-1935)CCT>TCT			hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF2	hypothetical protein LOC205147		T:0		ENSP00000314914	T:0	2-Feb	8.24E-06		9.21E-05						rs548602521,COSM2150281	2-Feb	.		ENST00000321420	Transcript		T:0.0002				ENSG00000178171	g.chr2:131521578C>T	26771			MODERATE		0.46	neutral	getma.org/?cm=msa&ty=f&p=AMER3_HUMAN&rb=601&re=800&var=P645S	NA	getma.org/?cm=var&var=hg19,2,131521578,C,T&fts=all	P645S	--	--	1																																		FAM123C_uc010fmv.2_Missense_Mutation_p.P645S|FAM123C_uc010fms.1_Missense_Mutation_p.P645S|FAM123C_uc010fmt.1_Missense_Mutation_p.P645S|FAM123C_uc010fmu.1_Missense_Mutation_p.P645S	0,1			benign(0.051)	p.P645S	NM_152698	NP_689911	T:0	tolerated(0.11)	0,1	AMER3_HUMAN	AMER3	HGNC	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	C9JS07_HUMAN,C9J4B8_HUMAN		2	2123	+	Colorectal(110;0.1)		UPI0000D61239	645					SNV	AMER3,missense_variant,p.Pro645Ser,ENST00000423981,NM_001105194.1,NM_001105195.1,NM_152698.2,NM_001105193.1;AMER3,missense_variant,p.Pro645Ser,ENST00000321420,;AMER3,downstream_gene_variant,,ENST00000458606,;AMER3,downstream_gene_variant,,ENST00000431758,;	uc002trw.2	c.1933C>T	2192/3273	2	2			c.1933C>T						2	SNP	c.(1933-1935)CCT>TCT	36	36			pancreas(2)|ovary(1)	3	Broad	hypothetical protein LOC205147			131521578		0.602	ENSG00000178171	5337	g.chr2:131521578C>T										38.265633	KEEP	3	11	-1	12	11	3	11	-1	38.876668	12	11	0.361111	1	0	0	0	0	1	0	0	0	--	--		0	T			FAM123C_uc010fmv.2_Missense_Mutation_p.P645S|FAM123C_uc010fms.1_Missense_Mutation_p.P645S|FAM123C_uc010fmt.1_Missense_Mutation_p.P645S|FAM123C_uc010fmu.1_Missense_Mutation_p.P645S	34	GBM-06-0169-TP	p.P645S	C	CCAGAAGGAGCCTGGGCCACC	NM_152698	NP_689911	131521578	Q8N944	F123C_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	2123	+	T	T	Colorectal(110;0.1)		Missense_Mutation	645						
AMER3	205147	broad.mit.edu	GRCh37	2	131522112	131522112	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0209-01	TCGA-06-0209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000423981.1:c.2473del	p.Val825SerfsTer58	p.V825Sfs*58	ENST00000423981	NM_001105194.1	823	Ggg/gg	0			1			-	G/X	uc002trw.2	protein_coding		CCDS2164.1			2467/2586									pancreas(2)|ovary(1)	3	c.(2467-2469)GGGfs			hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF2	hypothetical protein LOC205147				ENSP00000314914		2-Feb										2-Feb	.		ENST00000321420	Transcript						ENSG00000178171	g.chr2:131522112delG	26771	6		HIGH								--	--	1																																		FAM123C_uc010fmv.2_Frame_Shift_Del_p.G823fs|FAM123C_uc010fms.1_Frame_Shift_Del_p.G823fs|FAM123C_uc010fmt.1_Frame_Shift_Del_p.G823fs|FAM123C_uc010fmu.1_Frame_Shift_Del_p.G823fs					p.G823fs	NM_152698	NP_689911				AMER3_HUMAN	AMER3	HGNC	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	C9JS07_HUMAN,C9J4B8_HUMAN		2	2657	+	Colorectal(110;0.1)		UPI0000D61239	823					deletion	AMER3,frameshift_variant,p.Val825SerfsTer58,ENST00000423981,NM_001105194.1,NM_001105195.1,NM_152698.2,NM_001105193.1;AMER3,frameshift_variant,p.Val825SerfsTer58,ENST00000321420,;AMER3,downstream_gene_variant,,ENST00000458606,;AMER3,downstream_gene_variant,,ENST00000431758,;	uc002trw.2	c.2467delG	2726/3273	5	5			c.2467delG						2	DEL	c.(2467-2469)GGGfs	36	36			pancreas(2)|ovary(1)	3	Broad	hypothetical protein LOC205147			131522112		0.677	ENSG00000178171	5337	g.chr2:131522112delG																							0.41	1	1	0	1	0	0	0	0	0	--	--		0	-			FAM123C_uc010fmv.2_Frame_Shift_Del_p.G823fs|FAM123C_uc010fms.1_Frame_Shift_Del_p.G823fs|FAM123C_uc010fmt.1_Frame_Shift_Del_p.G823fs|FAM123C_uc010fmu.1_Frame_Shift_Del_p.G823fs	46	GBM-06-0209-TP	p.G823fs	G	CCAGCAGGAAGGGGGGGTCTC	NM_152698	NP_689911	131522112	Q8N944	F123C_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	2657	+	-	-	Colorectal(110;0.1)		Frame_Shift_Del	823						
AMER3	205147	broad.mit.edu	GRCh37	2	131521709	131521709	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0750-01	TCGA-06-0750-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000423981.1:c.2064C>T	p.Asn688=	p.N688=	ENST00000423981	NM_001105194.1	688	aaC/aaT	0			1			T	N	uc002trw.2	protein_coding		CCDS2164.1			2064/2586									pancreas(2)|ovary(1)	3	c.(2062-2064)AAC>AAT			hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF2	hypothetical protein LOC205147				ENSP00000314914		2-Feb	1.65E-05					1.68E-05		6.71E-05	rs763951703,COSM2151949	2-Feb	.		ENST00000321420	Transcript						ENSG00000178171	g.chr2:131521709C>T	26771			LOW								--	--	1																																		FAM123C_uc010fmv.2_Silent_p.N688N|FAM123C_uc010fms.1_Silent_p.N688N|FAM123C_uc010fmt.1_Silent_p.N688N|FAM123C_uc010fmu.1_Silent_p.N688N	0,1				p.N688N	NM_152698	NP_689911			0,1	AMER3_HUMAN	AMER3	HGNC	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	C9JS07_HUMAN,C9J4B8_HUMAN		2	2254	+	Colorectal(110;0.1)		UPI0000D61239	688					SNV	AMER3,synonymous_variant,p.=,ENST00000423981,NM_001105194.1,NM_001105195.1,NM_152698.2,NM_001105193.1;AMER3,synonymous_variant,p.=,ENST00000321420,;AMER3,downstream_gene_variant,,ENST00000458606,;AMER3,downstream_gene_variant,,ENST00000431758,;	uc002trw.2	c.2064C>T	2323/3273	2	2			c.2064C>T						2	SNP	c.(2062-2064)AAC>AAT	30	30			pancreas(2)|ovary(1)	3	Broad	hypothetical protein LOC205147			131521709		0.652	ENSG00000178171	5337	g.chr2:131521709C>T										45.092248	KEEP	10	7	-1	16	11	10	7	-1	45.524235	16	11	0.390244	1	0	0	0	0	0	0	1	0	--	--		0	T			FAM123C_uc010fmv.2_Silent_p.N688N|FAM123C_uc010fms.1_Silent_p.N688N|FAM123C_uc010fmt.1_Silent_p.N688N|FAM123C_uc010fmu.1_Silent_p.N688N	70	GBM-06-0750-TP	p.N688N	C	TCAGCTCAAACGAACAGCCCC	NM_152698	NP_689911	131521709	Q8N944	F123C_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	2254	+	T	T	Colorectal(110;0.1)		Silent	688						
AMER3	205147	broad.mit.edu	GRCh37	2	131520873	131520873	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5413-01	TCGA-06-5413-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000423981.1:c.1228G>A	p.Ala410Thr	p.A410T	ENST00000423981	NM_001105194.1	410	Gcc/Acc	0			1			A	A/T	uc002trw.2	protein_coding		CCDS2164.1			1228/2586									pancreas(2)|ovary(1)	3	c.(1228-1230)GCC>ACC			Pfam_domain:PF09422,hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF2	hypothetical protein LOC205147				ENSP00000314914		2-Feb	4.12E-05					4.54E-05		0.000121	rs749575852,COSM2153175	2-Feb	.		ENST00000321420	Transcript						ENSG00000178171	g.chr2:131520873G>A	26771			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=AMER3_HUMAN&rb=401&re=600&var=A410T	NA	getma.org/?cm=var&var=hg19,2,131520873,G,A&fts=all	A410T	--	--	1																																		FAM123C_uc010fmv.2_Missense_Mutation_p.A410T|FAM123C_uc010fms.1_Missense_Mutation_p.A410T|FAM123C_uc010fmt.1_Missense_Mutation_p.A410T|FAM123C_uc010fmu.1_Missense_Mutation_p.A410T	0,1			probably_damaging(0.93)	p.A410T	NM_152698	NP_689911		tolerated(0.12)	0,1	AMER3_HUMAN	AMER3	HGNC	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	C9JS07_HUMAN,C9J4B8_HUMAN		2	1418	+	Colorectal(110;0.1)		UPI0000D61239	410					SNV	AMER3,missense_variant,p.Ala410Thr,ENST00000423981,NM_001105194.1,NM_001105195.1,NM_152698.2,NM_001105193.1;AMER3,missense_variant,p.Ala410Thr,ENST00000321420,;AMER3,downstream_gene_variant,,ENST00000458606,;AMER3,downstream_gene_variant,,ENST00000431758,;	uc002trw.2	c.1228G>A	1487/3273	2	2			c.1228G>A						2	SNP	c.(1228-1230)GCC>ACC	46	46			pancreas(2)|ovary(1)	3	Broad	hypothetical protein LOC205147			131520873		0.617	ENSG00000178171	5337	g.chr2:131520873G>A										80.802966	KEEP	16	20	-1	27	34	16	20	-1	82.854051	27	34	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	A			FAM123C_uc010fmv.2_Missense_Mutation_p.A410T|FAM123C_uc010fms.1_Missense_Mutation_p.A410T|FAM123C_uc010fmt.1_Missense_Mutation_p.A410T|FAM123C_uc010fmu.1_Missense_Mutation_p.A410T	96	GBM-06-5413-TP	p.A410T	G	CACTCCTGCCGCCACCTTCCC	NM_152698	NP_689911	131520873	Q8N944	F123C_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	1418	+	A	A	Colorectal(110;0.1)		Missense_Mutation	410						
AMER3	0	broad.mit.edu	GRCh37	2	131520666	131520666	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321420.4:c.1021C>T	p.Arg341Trp	p.R341W	ENST00000321420		341	Cgg/Tgg	0		T:0	1	T:0		T	R/W	uc002trw.2	protein_coding		CCDS2164.1			1021/2586									pancreas(2)|ovary(1)	3	c.(1021-1023)CGG>TGG			Pfam_domain:PF09422,hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF2	hypothetical protein LOC205147		T:0.003		ENSP00000314914	T:0	2-Feb	9.89E-05			0.00105		3.04E-05		6.06E-05	rs555251292,COSM320231	2-Feb	common_variant		ENST00000321420	Transcript		T:0.0006				ENSG00000178171	g.chr2:131520666C>T	26771			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=AMER3_HUMAN&rb=201&re=400&var=R341W	NA	getma.org/?cm=var&var=hg19,2,131520666,C,T&fts=all	R341W	--	--	1																																		FAM123C_uc010fmv.2_Missense_Mutation_p.R341W|FAM123C_uc010fms.1_Missense_Mutation_p.R341W|FAM123C_uc010fmt.1_Missense_Mutation_p.R341W|FAM123C_uc010fmu.1_Missense_Mutation_p.R341W	0,1			probably_damaging(0.995)	p.R341W	NM_152698	NP_689911	T:0	deleterious(0)	0,1	AMER3_HUMAN	AMER3	HGNC	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	C9JS07_HUMAN,C9J4B8_HUMAN		2	1211	+	Colorectal(110;0.1)		UPI0000D61239	341					SNV	AMER3,missense_variant,p.Arg341Trp,ENST00000423981,NM_001105194.1,NM_001105195.1,NM_152698.2,NM_001105193.1;AMER3,missense_variant,p.Arg341Trp,ENST00000321420,;AMER3,downstream_gene_variant,,ENST00000458606,;AMER3,downstream_gene_variant,,ENST00000431758,;	uc002trw.2	c.1021C>T	1280/3273	2	2			c.1021C>T						2	SNP	c.(1021-1023)CGG>TGG	46	46			pancreas(2)|ovary(1)	3	Broad	hypothetical protein LOC205147			131520666		0.667	ENSG00000178171	5337	g.chr2:131520666C>T										59.285118	KEEP	8	16	-1	14	28	8	16	-1	60.463279	14	28	0.35	1	0	0	0	0	1	0	0	0	--	--		0	T			FAM123C_uc010fmv.2_Missense_Mutation_p.R341W|FAM123C_uc010fms.1_Missense_Mutation_p.R341W|FAM123C_uc010fmt.1_Missense_Mutation_p.R341W|FAM123C_uc010fmu.1_Missense_Mutation_p.R341W	269	GBM-76-4929-TP	p.R341W	C	GGACCAATCCCGGCTGGACAC	NM_152698	NP_689911	131520666	Q8N944	F123C_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	1211	+	T	T	Colorectal(110;0.1)		Missense_Mutation	341						
AMHR2	0	broad.mit.edu	GRCh37	12	53823327	53823327	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2524-01	TCGA-27-2524-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257863.4:c.1058G>A	p.Gly353Asp	p.G353D	ENST00000257863	NM_001164690.1	353	gGc/gAc	0			1			A	G/D	uc001scx.1	protein_coding	YES	CCDS8858.1			1058/1722									ovary(1)|skin(1)	2	c.(1057-1059)GGC>GAC			Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF037392,PROSITE_profiles:PS50011,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF49,Superfamily_domains:SSF56112	anti-Mullerian hormone receptor, type II isoform	Adenosine triphosphate(DB00171)			ENSP00000257863		11-Aug									COSM3398853	11-Aug	.	Persistant_Mullerian_Duct_Syndrome_(type_I_and_II)	ENST00000257863	Transcript	1		Mullerian duct regression		ATP binding|hormone binding|metal ion binding	ENSG00000135409	g.chr12:53823327G>A	465			MODERATE		3.25	medium	getma.org/?cm=msa&ty=f&p=AMHR2_HUMAN&rb=203&re=505&var=G353D	getma.org/pdb.php?prot=AMHR2_HUMAN&from=203&to=505&var=G353D	getma.org/?cm=var&var=hg19,12,53823327,G,A&fts=all	G353D	--	--	1																																		AMHR2_uc009zmy.1_Missense_Mutation_p.G353D	1	1		probably_damaging(0.982)	p.G353D	NM_020547	NP_065434		deleterious(0)	1	AMHR2_HUMAN	AMHR2	HGNC	Q16671	AMHR2_HUMAN			H3BPI9_HUMAN		8	1136	+			UPI0000125970	353			Cytoplasmic (Potential).|Protein kinase.		SNV	AMHR2,missense_variant,p.Gly353Asp,ENST00000257863,NM_001164690.1,NM_020547.2;AMHR2,missense_variant,p.Gly353Asp,ENST00000550311,;AMHR2,missense_variant,p.Gly353Asp,ENST00000379791,NM_001164691.1;AMHR2,missense_variant,p.Gly50Asp,ENST00000550839,;AMHR2,non_coding_transcript_exon_variant,,ENST00000552233,;AMHR2,downstream_gene_variant,,ENST00000553037,;AMHR2,downstream_gene_variant,,ENST00000548303,;	uc001scx.1	c.1058G>A	1138/1863	1	1			c.1058G>A						12	SNP	c.(1057-1059)GGC>GAC	64	64			ovary(1)|skin(1)	2	Broad	anti-Mullerian hormone receptor, type II isoform		Adenosine triphosphate(DB00171)	53823327	Persistant_Mullerian_Duct_Syndrome_(type_I_and_II)	0.572	ENSG00000135409	568	g.chr12:53823327G>A	Mullerian duct regression		ATP binding|hormone binding|metal ion binding			136			136	140.464532	KEEP	21	32	-1	38	33	21	32	-1	141.05297	38	33	0.423729	1	0	0	0	0	1	0	0	0	--	--		0	A			AMHR2_uc009zmy.1_Missense_Mutation_p.G353D	202	GBM-27-2524-TP	p.G353D	G	GGAGACCTGGGCCTTGCCTTG	NM_020547	NP_065434	53823327	Q16671	AMHR2_HUMAN	0			8	1136	+	A	A			Missense_Mutation	353			Cytoplasmic (Potential).|Protein kinase.			
AMMECR1L	0	broad.mit.edu	GRCh37	2	128631538	128631538	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000272647.5:c.271C>T	p.Arg91Trp	p.R91W	ENST00000272647	NM_001199140.1	91	Cgg/Tgg	0			1			A	R/W	uc002tpl.2	protein_coding	YES	CCDS2152.1			271/933									central_nervous_system(1)	1	c.(271-273)CGG>TGG			hmmpanther:PTHR13016,hmmpanther:PTHR13016:SF1	AMME chromosomal region gene 1-like				ENSP00000272647		8-Mar	3.29E-05		8.64E-05			4.50E-05			rs773853713,COSM3406849	8-Mar	.		ENST00000272647	Transcript						ENSG00000144233	g.chr2:128631538G>A	28658			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=AMERL_HUMAN&rb=1&re=107&var=R91W	NA	getma.org/?cm=var&var=hg19,2,128631538,G,A&fts=all	R91W	--	--	1																																		AMMECR1L_uc002tpm.2_Missense_Mutation_p.R91W	0,1	1		benign(0.153)	p.R91W	NM_031445	NP_113633		deleterious(0.03)	0,1	AMERL_HUMAN	AMMECR1L	HGNC	Q6DCA0	AMERL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.07)			3	522	-	Colorectal(110;0.1)		UPI000013D96F	91					SNV	AMMECR1L,missense_variant,p.Arg91Trp,ENST00000272647,NM_001199140.1;AMMECR1L,missense_variant,p.Arg91Trp,ENST00000393001,NM_031445.2;	uc002tpl.2	c.271C>T	532/4658	2	2			c.271C>T						2	SNP	c.(271-273)CGG>TGG	32	32			central_nervous_system(1)	1	Broad	AMME chromosomal region gene 1-like			128631538		0.547	ENSG00000144233	574	g.chr2:128631538G>A										210.376349	KEEP	43	34	-1	83	74	43	34	-1	215.236598	83	74	0.338095	1	0	0	0	0	1	0	0	0	--	--		0	A			AMMECR1L_uc002tpm.2_Missense_Mutation_p.R91W	232	GBM-32-1982-TP	p.R91W	G	CCATTAGGCCGGGGAAGAGGG	NM_031445	NP_113633	128631538	Q6DCA0	AMERL_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.07)	3	522	-	A	A	Colorectal(110;0.1)		Missense_Mutation	91						
AMN1	0	broad.mit.edu	GRCh37	12	31850308	31850308	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-15-1444-01	TCGA-15-1444-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281471.6:c.578C>T	p.Ala193Val	p.A193V	ENST00000281471	NM_001113402.1	193	gCg/gTg	0			1			A	A/V	uc001rkq.3	protein_coding	YES	CCDS44858.1			578/777										0	c.(577-579)GCG>GTG			Gene3D:3.80.10.10,hmmpanther:PTHR23125,SMART_domains:SM00367,Superfamily_domains:SSF52047	antagonist of mitotic exit network 1 homolog				ENSP00000281471		7-May	2.48E-05		8.68E-05					0.000122	rs771707923,COSM3398667	7-May	.		ENST00000281471	Transcript						ENSG00000151743	g.chr12:31850308G>A	27281			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=AMN1_HUMAN&rb=190&re=258&var=A193V	NA	getma.org/?cm=var&var=hg19,12,31850308,G,A&fts=all	A193V	--	--	1																																		AMN1_uc001rko.3_Missense_Mutation_p.A175V|AMN1_uc010skc.1_Missense_Mutation_p.A175V|AMN1_uc001rkp.3_Missense_Mutation_p.A175V|AMN1_uc009zjs.2_RNA|AMN1_uc009zjt.1_RNA	0,1	1		possibly_damaging(0.711)	p.A193V	NM_001113402	NP_001106873		deleterious(0.03)	0,1	AMN1_HUMAN	AMN1	HGNC	Q8IY45	AMN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0014)		F5H3D1_HUMAN,F5H1R2_HUMAN,F5GWF7_HUMAN,B7Z7J3_HUMAN		5	744	-	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		UPI000013DC7A	193					SNV	AMN1,missense_variant,p.Ala193Val,ENST00000281471,NM_001113402.1,NM_001278411.1;AMN1,missense_variant,p.Ala175Val,ENST00000537562,;AMN1,missense_variant,p.Ala175Val,ENST00000536761,NM_001278412.1;AMN1,missense_variant,p.Ala175Val,ENST00000535408,;AMN1,5_prime_UTR_variant,,ENST00000541931,;AMN1,5_prime_UTR_variant,,ENST00000542781,;AMN1,downstream_gene_variant,,ENST00000457428,;AMN1,downstream_gene_variant,,ENST00000506446,;AMN1,downstream_gene_variant,,ENST00000537960,;	uc001rkq.3	c.578C>T	744/2110	2	2			c.578C>T						12	SNP	c.(577-579)GCG>GTG	22	22				0	Broad	antagonist of mitotic exit network 1 homolog			31850308		0.338	ENSG00000151743	576	g.chr12:31850308G>A										13.676884	KEEP	4	4	-1	27	26	4	4	-1	20.315244	27	26	0.145455	1	0	0	0	0	1	0	0	0	--	--		0	A			AMN1_uc001rko.3_Missense_Mutation_p.A175V|AMN1_uc010skc.1_Missense_Mutation_p.A175V|AMN1_uc001rkp.3_Missense_Mutation_p.A175V|AMN1_uc009zjs.2_RNA|AMN1_uc009zjt.1_RNA	154	GBM-15-1444-TP	p.A193V	G	TAATTTCTTCGCACAAGGTCC	NM_001113402	NP_001106873	31850308	Q8IY45	AMN1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(6;0.0014)		5	744	-	A	A	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		Missense_Mutation	193						
AMOTL1	154810	broad.mit.edu	GRCh37	11	94554698	94554698	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6388-01	TCGA-06-6388-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000433060.2:c.1124G>A	p.Arg375His	p.R375H	ENST00000433060	NM_130847.2	375	cGc/cAc	0			1			A	R/H	uc001pfb.2	protein_coding	YES	CCDS44712.1			1124/2871									ovary(1)|breast(1)	2	c.(1123-1125)CGC>CAC			hmmpanther:PTHR14826,hmmpanther:PTHR14826:SF12	angiomotin like 1				ENSP00000387739		13-Apr	4.95E-05		0.000283	0.000123		1.62E-05			rs773855698,COSM3398221	13-Apr	.		ENST00000433060	Transcript				cytoplasm|tight junction	identical protein binding	ENSG00000166025	g.chr11:94554698G>A	17811			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=AMOL1_HUMAN&rb=201&re=400&var=R375H	NA	getma.org/?cm=var&var=hg19,11,94554698,G,A&fts=all	R375H	--	--	1																																		AMOTL1_uc001pfc.2_Missense_Mutation_p.R325H	0,1	1		possibly_damaging(0.891)	p.R375H	NM_130847	NP_570899		tolerated(0.06)	0,1	AMOL1_HUMAN	AMOTL1	HGNC	Q8IY63	AMOL1_HUMAN					4	1294	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	UPI00000742C2	375					SNV	AMOTL1,missense_variant,p.Arg375His,ENST00000433060,NM_130847.2;AMOTL1,missense_variant,p.Arg325His,ENST00000317829,;AMOTL1,missense_variant,p.Arg375His,ENST00000317837,;AMOTL1,splice_region_variant,,ENST00000539727,;	uc001pfb.2	c.1124G>A	1265/8970	1	1			c.1124G>A						11	SNP	c.(1123-1125)CGC>CAC	64	64			ovary(1)|breast(1)	2	Broad	angiomotin like 1			94554698		0.602	ENSG00000166025	578	g.chr11:94554698G>A		cytoplasm|tight junction	identical protein binding							26.809207	KEEP	5	8	-1	10	12	5	8	-1	27.092983	10	12	0.392857	1	0	0	0	0	1	0	0	0	--	--		0	A			AMOTL1_uc001pfc.2_Missense_Mutation_p.R325H	104	GBM-06-6388-TP	p.R375H	G	CCTTGCAGCCGCCCATGCCAA	NM_130847	NP_570899	94554698	Q8IY63	AMOL1_HUMAN	0			4	1294	+	A	A		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	Missense_Mutation	375						
AMOTL1	154810		GRCh37	11	94532995	94532995	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000433060.2:c.639G>A	p.Ala213=	p.A213=	ENST00000433060	NM_130847.2	213	gcG/gcA	0																																																																																																																																																																																																																																												
AMOTL2	51421	broad.mit.edu	GRCh37	3	134080563	134080563	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01	TCGA-06-0185-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000249883.5:c.1366G>A	p.Glu456Lys	p.E456K	ENST00000249883	NM_016201.3	456	Gag/Aag	0			1			T	E/K	uc003eqf.2	protein_coding					1366/2340									large_intestine(1)	1	c.(1540-1542)GAG>AAG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14826,hmmpanther:PTHR14826:SF3	angiomotin like 2				ENSP00000409999		10-Jun									COSM2150500	10-Jun	.		ENST00000422605	Transcript						ENSG00000114019	g.chr3:134080563C>T	17812			MODERATE		1.895	low	getma.org/?cm=msa&ty=f&p=AMOL2_HUMAN&rb=401&re=481&var=E456K	NA	getma.org/?cm=var&var=hg19,3,134080563,C,T&fts=all	E456K	--	--	1																																		AMOTL2_uc003eqg.1_Missense_Mutation_p.E456K|AMOTL2_uc003eqh.1_Missense_Mutation_p.E456K|AMOTL2_uc003eqe.1_Missense_Mutation_p.E81K	1			possibly_damaging(0.588)	p.E514K	NM_016201	NP_057285		deleterious(0.01)	1	AMOL2_HUMAN	AMOTL2	HGNC	Q9Y2J4	AMOL2_HUMAN			D6RJA4_HUMAN,D6RIC7_HUMAN,D6RFG0_HUMAN,D6RF61_HUMAN,D6RCL7_HUMAN,D6RBK2_HUMAN		6	1657	-			UPI000020A2BB	456			Potential.		SNV	AMOTL2,missense_variant,p.Glu514Lys,ENST00000514516,NM_001278683.1;AMOTL2,missense_variant,p.Glu456Lys,ENST00000249883,NM_016201.3,NM_001278685.1;AMOTL2,missense_variant,p.Glu456Lys,ENST00000422605,;AMOTL2,missense_variant,p.Glu456Lys,ENST00000513145,;AMOTL2,non_coding_transcript_exon_variant,,ENST00000506326,;	uc003eqf.2	c.1540G>A	1533/4335	1	1			c.1540G>A						3	SNP	c.(1540-1542)GAG>AAG	10	10			large_intestine(1)	1	Broad	angiomotin like 2			134080563		0.652	ENSG00000114019	579	g.chr3:134080563C>T										26.96803	KEEP	6	8	-1	10	8	6	8	-1	26.976527	10	8	0.47619	1	0	0	0	0	1	0	0	0	--	--		0	T			AMOTL2_uc003eqg.1_Missense_Mutation_p.E456K|AMOTL2_uc003eqh.1_Missense_Mutation_p.E456K|AMOTL2_uc003eqe.1_Missense_Mutation_p.E81K	40	GBM-06-0185-TP	p.E514K	C	TCCAGCAGCTCGGCACGCCGC	NM_016201	NP_057285	134080563	Q9Y2J4	AMOL2_HUMAN	0			6	1657	-	T	T			Missense_Mutation	456			Potential.			
AMPD1	0	broad.mit.edu	GRCh37	1	115215817	115215817	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-12-5295-01	TCGA-12-5295-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000520113.2:c.2261C>A	p.Ala754Asp	p.A754D	ENST00000520113		754	gCc/gAc	0			1			T	A/D	uc001efe.1	protein_coding	YES	CCDS876.2			2261/2343									ovary(2)|large_intestine(1)|skin(1)	4	c.(2161-2163)GCC>GAC			PIRSF_domain:PIRSF001251,hmmpanther:PTHR11359,hmmpanther:PTHR11359:SF1,Superfamily_domains:SSF51556,TIGRFAM_domain:TIGR01429	adenosine monophosphate deaminase 1 (isoform M)	Adenosine monophosphate(DB00131)			ENSP00000430075		16/16									COSM3399563,COSM3399562	16/16	.		ENST00000520113	Transcript	1		purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	ENSG00000116748	g.chr1:115215817G>T	468			MODERATE		2.44	medium	getma.org/?cm=msa&ty=f&p=AMPD1_HUMAN&rb=704&re=780&var=A754D	getma.org/pdb.php?prot=AMPD1_HUMAN&from=704&to=780&var=A754D	getma.org/?cm=var&var=hg19,1,115215817,G,T&fts=all	A754D	--	--	1																																		DENND2C_uc001eez.2_5'Flank|AMPD1_uc001eff.1_Missense_Mutation_p.A717D	1,1	1		possibly_damaging(0.873)	p.A721D	NM_000036	NP_000027		deleterious(0)	1,1	AMPD1_HUMAN	AMPD1	HGNC	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Q6F4B9_HUMAN,Q6F4B8_HUMAN,Q6F4B7_HUMAN,Q6F4B6_HUMAN,Q6F4B5_HUMAN		16	2246	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	UPI0000470A27	721					SNV	AMPD1,missense_variant,p.Ala750Asp,ENST00000369538,NM_001172626.1;AMPD1,missense_variant,p.Ala721Asp,ENST00000353928,NM_000036.2;AMPD1,missense_variant,p.Ala754Asp,ENST00000520113,;DENND2C,upstream_gene_variant,,ENST00000393274,NM_001256404.1;DENND2C,upstream_gene_variant,,ENST00000393276,NM_198459.3;DENND2C,upstream_gene_variant,,ENST00000393277,;DENND2C,upstream_gene_variant,,ENST00000493549,;	uc001efe.1	c.2162C>A	2277/2375	1	1			c.2162C>A						1	SNP	c.(2161-2163)GCC>GAC	3	3			ovary(2)|large_intestine(1)|skin(1)	4	Broad	adenosine monophosphate deaminase 1 (isoform M)		Adenosine monophosphate(DB00131)	115215817		0.398	ENSG00000116748	580	g.chr1:115215817G>T	purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding							118.639652	KEEP	20	25	0.444444444	39	39	20	25	0.444444444	120.618401	39	39	0.359649	1	0	0	0	0	1	0	0	0	--	--		0	T			DENND2C_uc001eez.2_5'Flank|AMPD1_uc001eff.1_Missense_Mutation_p.A717D	129	GBM-12-5295-TP	p.A721D	G	GCGGATTTGGGCTACATTTGT	NM_000036	NP_000027	115215817	P23109	AMPD1_HUMAN	0		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	16	2246	-	T	T	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	Missense_Mutation	721						
AMPD1	0	broad.mit.edu	GRCh37	1	115221096	115221096	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs142123340	by1000genomes	TCGA-32-2638-01	TCGA-32-2638-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000520113.2:c.1049G>A	p.Arg350His	p.R350H	ENST00000520113		350	cGt/cAt	0	T:0	T:0	1	T:0		T	R/H	uc001efe.1	protein_coding	YES	CCDS876.2			1049/2343									ovary(2)|large_intestine(1)|skin(1)	4	c.(949-951)CGT>CAT			Gene3D:3.20.20.140,Pfam_domain:PF00962,PIRSF_domain:PIRSF001251,hmmpanther:PTHR11359,hmmpanther:PTHR11359:SF1,Superfamily_domains:SSF51556,TIGRFAM_domain:TIGR01429	adenosine monophosphate deaminase 1 (isoform M)	Adenosine monophosphate(DB00131)	T:0	T:0.0001	ENSP00000430075	T:0.001	16-Aug	4.12E-05					4.50E-05		0.000121	rs142123340,COSM894226,COSM1583282	16-Aug	.		ENST00000520113	Transcript	1	T:0.0004	purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	ENSG00000116748	g.chr1:115221096C>T	468			MODERATE		3.31	medium	getma.org/?cm=msa&ty=f&p=AMPD1_HUMAN&rb=296&re=703&var=R350H	getma.org/pdb.php?prot=AMPD1_HUMAN&from=296&to=703&var=R350H	getma.org/?cm=var&var=hg19,1,115221096,C,T&fts=all	R350H	--	--	1																																		AMPD1_uc001eff.1_Missense_Mutation_p.R313H	0,1,1	1		benign(0.03)	p.R317H	NM_000036	NP_000027	T:0.001	deleterious(0.01)	0,1,1	AMPD1_HUMAN	AMPD1	HGNC	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Q6F4B9_HUMAN,Q6F4B8_HUMAN,Q6F4B7_HUMAN,Q6F4B6_HUMAN,Q6F4B5_HUMAN		8	1034	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	UPI0000470A27	317					SNV	AMPD1,missense_variant,p.Arg346His,ENST00000369538,NM_001172626.1;AMPD1,missense_variant,p.Arg317His,ENST00000353928,NM_000036.2;AMPD1,missense_variant,p.Arg350His,ENST00000520113,;AMPD1,downstream_gene_variant,,ENST00000485564,;	uc001efe.1	c.950G>A	1065/2375	1	1			c.950G>A						1	SNP	c.(949-951)CGT>CAT	15	15			ovary(2)|large_intestine(1)|skin(1)	4	Broad	adenosine monophosphate deaminase 1 (isoform M)		Adenosine monophosphate(DB00131)	115221096		0.368	ENSG00000116748	580	g.chr1:115221096C>T	purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding							132.27859	KEEP	33	14	-1	43	31	33	14	-1	133.403292	43	31	0.392857	1	0	0	0	0	1	0	0	0	--	--		0	T			AMPD1_uc001eff.1_Missense_Mutation_p.R313H	242	GBM-32-2638-TP	p.R317H	C	CTTAATAAAACGCAGCAGATG	NM_000036	NP_000027	115221096	P23109	AMPD1_HUMAN	0		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	8	1034	-	T	T	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	Missense_Mutation	317						
AMPD2	0	broad.mit.edu	GRCh37	1	110172108	110172108	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256578.3:c.2020C>T	p.Arg674Cys	p.R674C	ENST00000256578	NM_004037.7	674	Cgc/Tgc	0			1			T	R/C	uc009wfh.1	protein_coding	YES	CCDS805.1			2020/2640									ovary(2)|breast(1)	3	c.(2020-2022)CGC>TGC			hmmpanther:PTHR11359:SF3,hmmpanther:PTHR11359,Gene3D:3.20.20.140,Pfam_domain:PF00962,TIGRFAM_domain:TIGR01429,PIRSF_domain:PIRSF001251,Superfamily_domains:SSF51556	adenosine monophosphate deaminase 2 (isoform L)				ENSP00000256578		14/18	8.24E-06							6.10E-05	rs756745194,COSM3399530,COSM3399531	14/18	.		ENST00000256578	Transcript	1		purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	ENSG00000116337	g.chr1:110172108C>T	469			MODERATE		3.72	high	getma.org/?cm=msa&ty=f&p=AMPD2_HUMAN&rb=411&re=818&var=R674C	getma.org/pdb.php?prot=AMPD2_HUMAN&from=411&to=818&var=R674C	getma.org/?cm=var&var=hg19,1,110172108,C,T&fts=all	R674C	--	--	1																																		AMPD2_uc009wfg.1_RNA|AMPD2_uc001dyb.1_Missense_Mutation_p.R593C|AMPD2_uc001dyc.1_Missense_Mutation_p.R674C|AMPD2_uc010ovr.1_Missense_Mutation_p.R599C|AMPD2_uc001dyd.1_Missense_Mutation_p.R555C|AMPD2_uc001dye.1_5'UTR	0,1,1	1		probably_damaging(1)	p.R674C	NM_004037	NP_004028		deleterious(0)	0,1,1	AMPD2_HUMAN	AMPD2	HGNC	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	E9PIJ1_HUMAN		15	2562	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	UPI0000125956	674					SNV	AMPD2,missense_variant,p.Arg674Cys,ENST00000256578,NM_004037.7;AMPD2,missense_variant,p.Arg593Cys,ENST00000342115,NM_139156.3;AMPD2,missense_variant,p.Arg555Cys,ENST00000393688,NM_203404.1;AMPD2,missense_variant,p.Arg674Cys,ENST00000528667,NM_001257360.1;AMPD2,missense_variant,p.Arg645Cys,ENST00000369840,;AMPD2,missense_variant,p.Arg599Cys,ENST00000358729,;AMPD2,missense_variant,p.Arg556Cys,ENST00000528454,NM_001257361.1;AMPD2,missense_variant,p.Arg63Cys,ENST00000476688,;AMPD2,downstream_gene_variant,,ENST00000474459,;AMPD2,downstream_gene_variant,,ENST00000527846,;AMPD2,downstream_gene_variant,,ENST00000531203,;AMPD2,downstream_gene_variant,,ENST00000531734,;RP5-1160K1.6,intron_variant,,ENST00000369843,;AMPD2,non_coding_transcript_exon_variant,,ENST00000526301,;AMPD2,downstream_gene_variant,,ENST00000459643,;AMPD2,non_coding_transcript_exon_variant,,ENST00000532851,;AMPD2,non_coding_transcript_exon_variant,,ENST00000533132,;AMPD2,non_coding_transcript_exon_variant,,ENST00000479919,;AMPD2,upstream_gene_variant,,ENST00000528958,;AMPD2,downstream_gene_variant,,ENST00000524975,;AMPD2,downstream_gene_variant,,ENST00000529299,;AMPD2,downstream_gene_variant,,ENST00000528270,;AMPD2,downstream_gene_variant,,ENST00000486282,;AMPD2,downstream_gene_variant,,ENST00000525415,;AMPD2,downstream_gene_variant,,ENST00000467071,;AMPD2,downstream_gene_variant,,ENST00000534144,;	uc009wfh.1	c.2020C>T	2380/3899	2	2			c.2020C>T						1	SNP	c.(2020-2022)CGC>TGC	35	35			ovary(2)|breast(1)	3	Broad	adenosine monophosphate deaminase 2 (isoform L)			110172108		0.602	ENSG00000116337	581	g.chr1:110172108C>T	purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding							-83.606603	KEEP	8	8	-1	215	284	8	8	-1	26.957791	215	284	0.032397	1	0	0	0	0	1	0	0	0	--	--		0	T			AMPD2_uc009wfg.1_RNA|AMPD2_uc001dyb.1_Missense_Mutation_p.R593C|AMPD2_uc001dyc.1_Missense_Mutation_p.R674C|AMPD2_uc010ovr.1_Missense_Mutation_p.R599C|AMPD2_uc001dyd.1_Missense_Mutation_p.R555C|AMPD2_uc001dye.1_5'UTR	271	GBM-76-4932-TP	p.R674C	C	GAACCACCTGCGCAGGTGCCT	NM_004037	NP_004028	110172108	Q01433	AMPD2_HUMAN	0		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	15	2562	+	T	T		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	Missense_Mutation	674						
AMPD2	271		GRCh37	1	110171969	110171969	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000256578.3:c.1881G>A	p.Val627=	p.V627=	ENST00000256578	NM_004037.7	627	gtG/gtA	0																																																																																																																																																																																																																																												
AMPD3	0	broad.mit.edu	GRCh37	11	10514962	10514962	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-76-4935-01	TCGA-76-4935-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396553.2:c.1006A>T	p.Thr336Ser	p.T336S	ENST00000396553	NM_001025389.1	336	Aca/Tca	0			1			T	T/S	uc001mio.1	protein_coding		CCDS41617.1			1006/2304									large_intestine(1)|ovary(1)	2	c.(1006-1008)ACA>TCA			Gene3D:3.20.20.140,Pfam_domain:PF00962,PIRSF_domain:PIRSF001251,hmmpanther:PTHR11359,hmmpanther:PTHR11359:SF2,Superfamily_domains:SSF51556,TIGRFAM_domain:TIGR01429	adenosine monophosphate deaminase 3 isoform 1B				ENSP00000379801		15-Jul									COSM3397374	15-Jul	.		ENST00000396553	Transcript	1		AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	ENSG00000133805	g.chr11:10514962A>T	470			MODERATE		0.76	neutral	getma.org/?cm=msa&ty=f&p=AMPD3_HUMAN&rb=310&re=717&var=T336S	getma.org/pdb.php?prot=AMPD3_HUMAN&from=310&to=717&var=T336S	getma.org/?cm=var&var=hg19,11,10514962,A,T&fts=all	T336S	--	--	1																																		AMPD3_uc010rbz.1_Missense_Mutation_p.T177S|AMPD3_uc001min.1_Missense_Mutation_p.T345S|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.T343S|AMPD3_uc009yfy.2_Missense_Mutation_p.T336S	1			benign(0.21)	p.T336S	NM_001025389	NP_001020560		tolerated(0.61)	1	AMPD3_HUMAN	AMPD3	HGNC	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	E9PPG2_HUMAN,E9PLK6_HUMAN		7	1341	+			UPI0000125959	336					SNV	AMPD3,missense_variant,p.Thr177Ser,ENST00000444303,NM_001172431.1;AMPD3,missense_variant,p.Thr345Ser,ENST00000396554,NM_000480.2;AMPD3,missense_variant,p.Thr336Ser,ENST00000396553,NM_001025389.1;AMPD3,missense_variant,p.Thr336Ser,ENST00000529507,NM_001172430.1;AMPD3,missense_variant,p.Thr343Ser,ENST00000528723,NM_001025390.1;AMPD3,upstream_gene_variant,,ENST00000530864,;AMPD3,missense_variant,p.Thr336Ser,ENST00000529834,;AMPD3,missense_variant,p.Thr17Ser,ENST00000533116,;AMPD3,3_prime_UTR_variant,,ENST00000534047,;	uc001mio.1	c.1006A>T	1140/3680	2	2			c.1006A>T						11	SNP	c.(1006-1008)ACA>TCA	46	46			large_intestine(1)|ovary(1)	2	Broad	adenosine monophosphate deaminase 3 isoform 1B			10514962		0.612	ENSG00000133805	582	g.chr11:10514962A>T	AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding							-26.866918	KEEP	3	8	-1	108	104	3	8	-1	18.488007	108	104	0.044118	1	0	0	0	0	1	0	0	0	--	--		0	T			AMPD3_uc010rbz.1_Missense_Mutation_p.T177S|AMPD3_uc001min.1_Missense_Mutation_p.T345S|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.T343S|AMPD3_uc009yfy.2_Missense_Mutation_p.T336S	273	GBM-76-4935-TP	p.T336S	A	CATCAAGCACACATACCAGAC	NM_001025389	NP_001020560	10514962	Q01432	AMPD3_HUMAN	0		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	7	1341	+	T	T			Missense_Mutation	336						
AMPH	273	broad.mit.edu	GRCh37	7	38471801	38471801	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356264.2:c.1146G>A	p.Trp382Ter	p.W382*	ENST00000356264	NM_001635.3	382	tgG/tgA	0			1			T	W/*	uc003tgu.2	protein_coding	YES	CCDS5456.1			1146/2088									ovary(3)|liver(1)|skin(1)	5	c.(1144-1146)TGG>TGA			hmmpanther:PTHR10321,hmmpanther:PTHR10321:SF23	amphiphysin isoform 1				ENSP00000348602		13/21									COSM138614,COSM3412021	13/21	.		ENST00000356264	Transcript			endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		ENSG00000078053	g.chr7:38471801C>T	471			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,38471801,C,T&fts=all	W382*	--	--	1																																		AMPH_uc003tgv.2_Nonsense_Mutation_p.W382*|AMPH_uc003tgt.2_Nonsense_Mutation_p.W135*|AMPH_uc003tgw.1_5'Flank|AMPH_uc010kxl.1_5'Flank	1,1	1			p.W382*	NM_001635	NP_001626			1,1	AMPH_HUMAN	AMPH	HGNC	P49418	AMPH_HUMAN			Q9UQI5_HUMAN,Q9UQI4_HUMAN,Q9UQI3_HUMAN,Q9UQI2_HUMAN		13	1215	-			UPI00001259EA	382					SNV	AMPH,stop_gained,p.Trp382Ter,ENST00000356264,NM_001635.3;AMPH,stop_gained,p.Trp382Ter,ENST00000325590,NM_139316.2;AMPH,stop_gained,p.Trp382Ter,ENST00000428293,;AMPH,stop_gained,p.Trp133Ter,ENST00000441628,;AMPH,upstream_gene_variant,,ENST00000471913,;AMPH,upstream_gene_variant,,ENST00000467580,;AMPH,upstream_gene_variant,,ENST00000450124,;AMPH,upstream_gene_variant,,ENST00000462072,;	uc003tgu.2	c.1146G>A	1362/3418	5	2			c.1146G>A						7	SNP	c.(1144-1146)TGG>TGA	35	35			ovary(3)|liver(1)|skin(1)	5	Broad	amphiphysin isoform 1			38471801		0.318	ENSG00000078053	583	g.chr7:38471801C>T	endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane								131.67483	KEEP	33	32	-1	95	119	33	32	-1	148.108227	95	119	0.224576	1	0	0	0	0	0	1	0	0	--	--		0	T			AMPH_uc003tgv.2_Nonsense_Mutation_p.W382*|AMPH_uc003tgt.2_Nonsense_Mutation_p.W135*|AMPH_uc003tgw.1_5'Flank|AMPH_uc010kxl.1_5'Flank	100	GBM-06-5418-TP	p.W382*	C	TCCATAGGTCCCAGGGCAATG	NM_001635	NP_001626	38471801	P49418	AMPH_HUMAN	0			13	1215	-	T	T			Nonsense_Mutation	382						
AMPH	0	broad.mit.edu	GRCh37	7	38516553	38516553	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356264.2:c.413G>A	p.Arg138His	p.R138H	ENST00000356264	NM_001635.3	138	cGc/cAc	0	T:0		1			T	R/H	uc003tgu.2	protein_coding	YES	CCDS5456.1			413/2088									ovary(3)|liver(1)|skin(1)	5	c.(412-414)CGC>CAC			Gene3D:1.20.1270.60,Pfam_domain:PF03114,PROSITE_profiles:PS51021,hmmpanther:PTHR10321,hmmpanther:PTHR10321:SF23,SMART_domains:SM00721,Superfamily_domains:SSF103657	amphiphysin isoform 1			T:0.0001	ENSP00000348602		21-Jun									rs375161752,COSM3412022,COSM3412023	21-Jun	.		ENST00000356264	Transcript			endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		ENSG00000078053	g.chr7:38516553C>T	471			MODERATE		2.77	medium	getma.org/?cm=msa&ty=f&p=AMPH_HUMAN&rb=13&re=233&var=R138H	getma.org/pdb.php?prot=AMPH_HUMAN&from=13&to=233&var=R138H	getma.org/?cm=var&var=hg19,7,38516553,C,T&fts=all	R138H	--	--	1																																		AMPH_uc003tgv.2_Missense_Mutation_p.R138H	0,1,1	1		probably_damaging(1)	p.R138H	NM_001635	NP_001626		deleterious(0)	0,1,1	AMPH_HUMAN	AMPH	HGNC	P49418	AMPH_HUMAN			Q9UQI5_HUMAN,Q9UQI4_HUMAN,Q9UQI3_HUMAN,Q9UQI2_HUMAN		6	482	-			UPI00001259EA	138			BAR.		SNV	AMPH,missense_variant,p.Arg138His,ENST00000356264,NM_001635.3;AMPH,missense_variant,p.Arg138His,ENST00000325590,NM_139316.2;AMPH,missense_variant,p.Arg138His,ENST00000428293,;	uc003tgu.2	c.413G>A	629/3418	1	1			c.413G>A						7	SNP	c.(412-414)CGC>CAC	7	7			ovary(3)|liver(1)|skin(1)	5	Broad	amphiphysin isoform 1			38516553		0.502	ENSG00000078053	583	g.chr7:38516553C>T	endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane								57.676977	KEEP	8	19	-1	53	71	8	19	-1	68.762087	53	71	0.198473	1	0	0	0	0	1	0	0	0	--	--		0	T			AMPH_uc003tgv.2_Missense_Mutation_p.R138H	160	GBM-19-1790-TP	p.R138H	C	CTTCCTGCTGCGCTTGGCGAT	NM_001635	NP_001626	38516553	P49418	AMPH_HUMAN	0			6	482	-	T	T			Missense_Mutation	138			BAR.			
AMT	0	broad.mit.edu	GRCh37	3	49455400	49455400	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273588.3:c.884G>A	p.Arg295His	p.R295H	ENST00000273588	NM_000481.3	295	cGc/cAc	0			1			T	R/H	uc003cww.2	protein_coding	YES	CCDS2797.1			884/1212									ovary(1)	1	c.(883-885)CGC>CAC			PIRSF_domain:PIRSF006487,hmmpanther:PTHR13847,hmmpanther:PTHR13847:SF5,Superfamily_domains:SSF103025,TIGRFAM_domain:TIGR00528	aminomethyltransferase isoform 1 precursor	NADH(DB00157)|Tetrahydrofolic acid(DB00116)			ENSP00000273588		9-Aug									COSM3408741	9-Aug	.		ENST00000273588	Transcript	1		glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity	ENSG00000145020	g.chr3:49455400C>T	473			MODERATE		3.35	medium	getma.org/?cm=msa&ty=f&p=GCST_HUMAN&rb=262&re=329&var=R295H	getma.org/pdb.php?prot=GCST_HUMAN&from=292&to=299&var=R295H	getma.org/?cm=var&var=hg19,3,49455400,C,T&fts=all	R295H	--	--	1																																		AMT_uc011bcn.1_Intron|AMT_uc003cwx.2_Missense_Mutation_p.R295H|AMT_uc011bco.1_Missense_Mutation_p.R251H|AMT_uc003cwy.2_Missense_Mutation_p.R247H|AMT_uc011bcp.1_Missense_Mutation_p.R198H|AMT_uc011bcq.1_Missense_Mutation_p.R239H	1	1		possibly_damaging(0.776)	p.R295H	NM_000481	NP_000472		deleterious(0.02)	1	GCST_HUMAN	AMT	HGNC	P48728	GCST_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	B4DGG9_HUMAN,B3KTU4_HUMAN		8	1013	-			UPI000012B35E	295					SNV	AMT,missense_variant,p.Arg295His,ENST00000273588,NM_000481.3;AMT,missense_variant,p.Arg239His,ENST00000538581,NM_001164711.1;AMT,missense_variant,p.Arg295His,ENST00000395338,NM_001164712.1;AMT,missense_variant,p.Arg251His,ENST00000458307,NM_001164710.1;AMT,missense_variant,p.Arg293His,ENST00000427987,;AMT,missense_variant,p.Arg198His,ENST00000546031,;AMT,missense_variant,p.Arg239His,ENST00000430521,;NICN1,downstream_gene_variant,,ENST00000273598,NM_032316.3;TCTA,downstream_gene_variant,,ENST00000273590,NM_022171.2;NICN1-AS1,upstream_gene_variant,,ENST00000424915,;AMT,non_coding_transcript_exon_variant,,ENST00000476226,;TCTA,downstream_gene_variant,,ENST00000493381,;TCTA,downstream_gene_variant,,ENST00000487432,;AMT,downstream_gene_variant,,ENST00000480957,;TCTA,downstream_gene_variant,,ENST00000488385,;AMT,downstream_gene_variant,,ENST00000487589,;AMT,downstream_gene_variant,,ENST00000485108,;TCTA,downstream_gene_variant,,ENST00000482193,;TCTA,downstream_gene_variant,,ENST00000497786,;AMT,downstream_gene_variant,,ENST00000493046,;AMT,downstream_gene_variant,,ENST00000462048,;RHOA,upstream_gene_variant,,ENST00000265538,;AMT,3_prime_UTR_variant,,ENST00000399379,;AMT,non_coding_transcript_exon_variant,,ENST00000465925,;AMT,non_coding_transcript_exon_variant,,ENST00000476127,;AMT,non_coding_transcript_exon_variant,,ENST00000473163,;AMT,intron_variant,,ENST00000495436,;AMT,downstream_gene_variant,,ENST00000478594,;AMT,downstream_gene_variant,,ENST00000461210,;AMT,downstream_gene_variant,,ENST00000498571,;AMT,downstream_gene_variant,,ENST00000491800,;AMT,downstream_gene_variant,,ENST00000476828,;	uc003cww.2	c.884G>A	1187/2276	2	2			c.884G>A						3	SNP	c.(883-885)CGC>CAC	26	26			ovary(1)	1	Broad	aminomethyltransferase isoform 1 precursor		NADH(DB00157)|Tetrahydrofolic acid(DB00116)	49455400		0.582	ENSG00000145020	584	g.chr3:49455400C>T	glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity							49.634467	KEEP	10	10	-1	13	16	10	10	-1	50.00482	13	16	0.404255	1	0	0	0	0	1	0	0	0	--	--		0	T			AMT_uc011bcn.1_Intron|AMT_uc003cwx.2_Missense_Mutation_p.R295H|AMT_uc011bco.1_Missense_Mutation_p.R251H|AMT_uc003cwy.2_Missense_Mutation_p.R247H|AMT_uc011bcp.1_Missense_Mutation_p.R198H|AMT_uc011bcq.1_Missense_Mutation_p.R239H	131	GBM-12-5301-TP	p.R295H	C	AGCTCGGCGGCGCTTCCCTGG	NM_000481	NP_000472	49455400	P48728	GCST_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	8	1013	-	T	T			Missense_Mutation	295						
AMT	0	broad.mit.edu	GRCh37	3	49459869	49459870	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-32-4211-01	TCGA-32-4211-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273588.3:c.14dupT	p.Ser6LysfsTer22	p.S6Kfs*22	ENST00000273588	NM_000481.3	5	gta/gtTa	0	A:0.0002		1			A	V/VX	uc003cww.2	protein_coding	YES	CCDS2797.1			14-15/1212									ovary(1)	1	c.(13-15)GTAfs				aminomethyltransferase isoform 1 precursor	NADH(DB00157)|Tetrahydrofolic acid(DB00116)		A:0	ENSP00000273588		9-Jan	4.94E-05	0.000108				3.24E-05	0.00124	0.000126	rs773988915	9-Jan	.		ENST00000273588	Transcript	1		glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity	ENSG00000145020	g.chr3:49459869_49459870insA	473			HIGH								--	--	1																																		AMT_uc011bcn.1_5'UTR|AMT_uc003cwx.2_Frame_Shift_Ins_p.V5fs|AMT_uc011bco.1_Frame_Shift_Ins_p.V5fs|AMT_uc003cwy.2_5'UTR|AMT_uc011bcp.1_5'UTR|AMT_uc011bcq.1_Frame_Shift_Ins_p.V5fs|NICN1_uc003cwz.1_3'UTR		1			p.V5fs	NM_000481	NP_000472				GCST_HUMAN	AMT	HGNC	P48728	GCST_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	B4DGG9_HUMAN,B3KTU4_HUMAN		1	143_144	-			UPI000012B35E	5					insertion	AMT,frameshift_variant,p.Ser6LysfsTer22,ENST00000273588,NM_000481.3;AMT,frameshift_variant,p.Ser6LysfsTer22,ENST00000538581,NM_001164711.1;AMT,frameshift_variant,p.Ser6LysfsTer22,ENST00000395338,NM_001164712.1;AMT,frameshift_variant,p.Ser6LysfsTer22,ENST00000458307,NM_001164710.1;AMT,frameshift_variant,p.Ser4LysfsTer22,ENST00000427987,;AMT,frameshift_variant,p.Ser6LysfsTer22,ENST00000430521,;AMT,5_prime_UTR_variant,,ENST00000546031,;NICN1,downstream_gene_variant,,ENST00000273598,NM_032316.3;NICN1,downstream_gene_variant,,ENST00000436744,;NICN1-AS1,upstream_gene_variant,,ENST00000424915,;AMT,splice_region_variant,,ENST00000462048,;AMT,non_coding_transcript_exon_variant,,ENST00000476226,;AMT,non_coding_transcript_exon_variant,,ENST00000480957,;AMT,non_coding_transcript_exon_variant,,ENST00000487589,;AMT,non_coding_transcript_exon_variant,,ENST00000485108,;AMT,non_coding_transcript_exon_variant,,ENST00000493046,;NICN1,downstream_gene_variant,,ENST00000422593,;AMT,frameshift_variant,p.Ser6LysfsTer22,ENST00000399379,;AMT,non_coding_transcript_exon_variant,,ENST00000478594,;AMT,non_coding_transcript_exon_variant,,ENST00000495436,;AMT,non_coding_transcript_exon_variant,,ENST00000498571,;AMT,upstream_gene_variant,,ENST00000465925,;NICN1,downstream_gene_variant,,ENST00000423832,;NICN1,downstream_gene_variant,,ENST00000497742,;AMT,upstream_gene_variant,,ENST00000476127,;AMT,upstream_gene_variant,,ENST00000461210,;NICN1,downstream_gene_variant,,ENST00000494057,;AMT,upstream_gene_variant,,ENST00000491800,;AMT,upstream_gene_variant,,ENST00000476828,;AMT,upstream_gene_variant,,ENST00000473163,;NICN1,downstream_gene_variant,,ENST00000461015,;	uc003cww.2	c.14_15insT	317-318/2276	5	5			c.14_15insT						3	INS	c.(13-15)GTAfs	10	10			ovary(1)	1	Broad	aminomethyltransferase isoform 1 precursor		NADH(DB00157)|Tetrahydrofolic acid(DB00116)	49459870		0.639	ENSG00000145020	584	g.chr3:49459869_49459870insA	glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity																				0.2	1	0	0	1	1	0	0	0	0	--	--		0	A			AMT_uc011bcn.1_5'UTR|AMT_uc003cwx.2_Frame_Shift_Ins_p.V5fs|AMT_uc011bco.1_Frame_Shift_Ins_p.V5fs|AMT_uc003cwy.2_5'UTR|AMT_uc011bcp.1_5'UTR|AMT_uc011bcq.1_Frame_Shift_Ins_p.V5fs|NICN1_uc003cwz.1_3'UTR	246	GBM-32-4211-TP	p.V5fs	-	CCACCACACTTACAGCCCTCTG	NM_000481	NP_000472	49459869	P48728	GCST_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	143_144	-	A	A			Frame_Shift_Ins	5						
AMY2B	280	broad.mit.edu	GRCh37	1	104122114	104122114	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0878-01	TCGA-06-0878-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361355.4:c.1528A>C	p.Lys510Gln	p.K510Q	ENST00000361355	NM_020978.4	510	Aaa/Caa	0			1			C	K/Q	uc001duq.2	protein_coding	YES	CCDS782.1			1528/1536										0	c.(1528-1530)AAA>CAA			Gene3D:2.60.40.1180,hmmpanther:PTHR10357,hmmpanther:PTHR10357:SF105,SMART_domains:SM00632,Superfamily_domains:SSF51011	amylase, pancreatic, alpha-2B precursor				ENSP00000354610		12-Dec									COSM3399499	12-Dec	.		ENST00000361355	Transcript			carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	ENSG00000240038	g.chr1:104122114A>C	478			MODERATE		2.85	medium	getma.org/?cm=msa&ty=f&p=AMY2B_HUMAN&rb=421&re=510&var=K510Q	getma.org/pdb.php?prot=AMY2B_HUMAN&from=421&to=510&var=K510Q	getma.org/?cm=var&var=hg19,1,104122114,A,C&fts=all	K510Q	--	--	1																																		AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.K510Q|AMY2B_uc001dus.1_Intron	1	1		possibly_damaging(0.9)	p.K510Q	NM_020978	NP_066188		deleterious(0.01)	1	AMY2B_HUMAN	AMY2B	HGNC	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	C9JWK7_HUMAN,C9J2Z5_HUMAN		12	2144	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	UPI0000000CB1	510					SNV	AMY2B,missense_variant,p.Lys510Gln,ENST00000361355,NM_020978.4;AMY2B,non_coding_transcript_exon_variant,,ENST00000491397,;AMY2B,non_coding_transcript_exon_variant,,ENST00000481821,;AMY2B,downstream_gene_variant,,ENST00000462971,;AMY2B,3_prime_UTR_variant,,ENST00000477657,;	uc001duq.2	c.1528A>C	2144/2181	3	3			c.1528A>C						1	SNP	c.(1528-1530)AAA>CAA	16	16				0	Broad	amylase, pancreatic, alpha-2B precursor			104122114		0.284	ENSG00000240038	587	g.chr1:104122114A>C	carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding							9.604027	KEEP	10	13	-1	143	135	10	13	-1	62.777629	143	135	0.078498	1	0	0	0	0	1	0	0	0	--	--		0	C			AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.K510Q|AMY2B_uc001dus.1_Intron	74	GBM-06-0878-TP	p.K510Q	A	TGCTGAATCtaaattataaaa	NM_020978	NP_066188	104122114	P19961	AMY2B_HUMAN	0		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	12	2144	+	C	C		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	Missense_Mutation	510						
AMY2B	280		GRCh37	1	104115707	104115710	+	frameshift_variant	Frame_Shift_Del	DEL	TAAT	TAAT	-			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000361355.4:c.342_345del	p.Asn115IlefsTer7	p.N115Ifs*7	ENST00000361355	NM_020978.4	113	gTAATt/gt	0																																																																																																																																																																																																																																												
AMY2B	280		GRCh37	1	104116388	104116388	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000361355.4:c.572G>A	p.Arg191His	p.R191H	ENST00000361355	NM_020978.4	191	cGt/cAt	0																																																																																																																																																																																																																																												
AMZ1	155185	broad.mit.edu	GRCh37	7	2740173	2740174	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-06-0195-01	TCGA-06-0195-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312371.4:c.89dup	p.Leu31AlafsTer121	p.L31Afs*121	ENST00000312371	NM_133463.1	30	cag/cAag	0			1			A	Q/QX	uc003smr.1	protein_coding	YES	CCDS34589.1			88-89/1497										0	c.(88-90)CAGfs			hmmpanther:PTHR32205:SF4,hmmpanther:PTHR32205	archaelysin family metallopeptidase 1				ENSP00000308149		7-Feb										7-Feb	.		ENST00000312371	Transcript					metallopeptidase activity|zinc ion binding	ENSG00000174945	g.chr7:2740173_2740174insA	22231	1		HIGH								--	--	1																																		AMZ1_uc003sms.1_Frame_Shift_Ins_p.Q30fs|AMZ1_uc011jwa.1_5'Flank		1			p.Q30fs	NM_133463	NP_597720				AMZ1_HUMAN	AMZ1	HGNC	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	B4DIY9_HUMAN,A4D202_HUMAN		2	449_450	+		Ovarian(82;0.0779)	UPI00001C1E77	30					insertion	AMZ1,frameshift_variant,p.Leu31AlafsTer121,ENST00000312371,NM_133463.1;AMZ1,frameshift_variant,p.Leu31AlafsTer121,ENST00000407112,NM_001284355.1;AMZ1,upstream_gene_variant,,ENST00000489665,;AMZ1,upstream_gene_variant,,ENST00000485540,;AMZ1,upstream_gene_variant,,ENST00000480560,;	uc003smr.1	c.88_89insA	456-457/5516	5	5			c.88_89insA						7	INS	c.(88-90)CAGfs	62	62				0	Broad	archaelysin family metallopeptidase 1			2740174		0.668	ENSG00000174945	588	g.chr7:2740173_2740174insA			metallopeptidase activity|zinc ion binding																				0.32	1	0	0	1	1	0	0	0	0	--	--		0	A			AMZ1_uc003sms.1_Frame_Shift_Ins_p.Q30fs|AMZ1_uc011jwa.1_5'Flank	45	GBM-06-0195-TP	p.Q30fs	-	AGCCCTGCAGCAGCTGTATGTG	NM_133463	NP_597720	2740173	Q400G9	AMZ1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	2	449_450	+	A	A		Ovarian(82;0.0779)	Frame_Shift_Ins	30						
ANAPC1	64682	broad.mit.edu	GRCh37	2	112541977	112541977	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341068.3:c.4918G>A	p.Gly1640Ser	p.G1640S	ENST00000341068	NM_022662.3	1640	Ggc/Agc	0			1			T	G/S	uc002thi.2	protein_coding	YES	CCDS2093.1			4918/5835									skin(2)	2	c.(4918-4920)GGC>AGC			hmmpanther:PTHR12827	anaphase promoting complex subunit 1				ENSP00000339109		41/48									COSM2151797	41/48	.		ENST00000341068	Transcript			anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		ENSG00000153107	g.chr2:112541977C>T	19988			MODERATE		0.755	neutral	getma.org/?cm=msa&ty=f&p=APC1_HUMAN&rb=1628&re=1827&var=G1640S	NA	getma.org/?cm=var&var=hg19,2,112541977,C,T&fts=all	G1640S	--	--	1																																			1	1		benign(0.05)	p.G1640S	NM_022662	NP_073153		tolerated(0.74)	1	APC1_HUMAN	ANAPC1	HGNC	Q9H1A4	APC1_HUMAN					41	5165	-			UPI000006EC6E	1640					SNV	ANAPC1,missense_variant,p.Gly1640Ser,ENST00000341068,NM_022662.3;ANAPC1,missense_variant,p.Gly1175Ser,ENST00000427997,;ANAPC1,upstream_gene_variant,,ENST00000462785,;	uc002thi.2	c.4918G>A	5691/8259	2	2			c.4918G>A						2	SNP	c.(4918-4920)GGC>AGC	36	36			skin(2)	2	Broad	anaphase promoting complex subunit 1			112541977		0.458	ENSG00000153107	590	g.chr2:112541977C>T	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm								22.85358	KEEP	9	10	-1	34	47	9	10	-1	30.219417	34	47	0.169014	1	0	0	0	0	1	0	0	0	--	--		0	T				68	GBM-06-0747-TP	p.G1640S	C	CACTGAGTGCCCTTTACAAAT	NM_022662	NP_073153	112541977	Q9H1A4	APC1_HUMAN	0			41	5165	-	T	T			Missense_Mutation	1640						
ANAPC1	64682	broad.mit.edu	GRCh37	2	112608394	112608394	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-2563-01	TCGA-06-2563-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341068.3:c.1609A>G	p.Thr537Ala	p.T537A	ENST00000341068	NM_022662.3	537	Act/Gct	0			1			C	T/A	uc002thi.2	protein_coding	YES	CCDS2093.1			1609/5835									skin(2)	2	c.(1609-1611)ACT>GCT			hmmpanther:PTHR12827	anaphase promoting complex subunit 1				ENSP00000339109		14/48	4.94E-05	0.000193			0.000151	1.50E-05			rs776845218,COSM475768	14/48	.		ENST00000341068	Transcript			anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		ENSG00000153107	g.chr2:112608394T>C	19988			MODERATE		1.415	low	getma.org/?cm=msa&ty=f&p=APC1_HUMAN&rb=428&re=627&var=T537A	NA	getma.org/?cm=var&var=hg19,2,112608394,T,C&fts=all	T537A	--	--	1																																			0,1	1		benign(0.438)	p.T537A	NM_022662	NP_073153		tolerated(0.08)	0,1	APC1_HUMAN	ANAPC1	HGNC	Q9H1A4	APC1_HUMAN					14	1856	-			UPI000006EC6E	537					SNV	ANAPC1,missense_variant,p.Thr537Ala,ENST00000341068,NM_022662.3;ANAPC1,missense_variant,p.Thr72Ala,ENST00000427997,;	uc002thi.2	c.1609A>G	2382/8259	3	3			c.1609A>G						2	SNP	c.(1609-1611)ACT>GCT	63	63			skin(2)	2	Broad	anaphase promoting complex subunit 1			112608394		0.433	ENSG00000153107	590	g.chr2:112608394T>C	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm								-44.258469	KEEP	1	5	-1	112	105	1	5	-1	6.557919	112	105	0.020305	1	0	0	0	0	1	0	0	0	--	--		0	C				86	GBM-06-2563-TP	p.T537A	T	GGCTTTGGAGTACTAACGCCA	NM_022662	NP_073153	112608394	Q9H1A4	APC1_HUMAN	0			14	1856	-	C	C			Missense_Mutation	537						
ANAPC2	29882	broad.mit.edu	GRCh37	9	140074735	140074735	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-2569-01	TCGA-06-2569-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323927.2:c.1788G>T	p.Leu596=	p.L596=	ENST00000323927	NM_013366.3	596	ctG/ctT	0			1			A	L	uc004clr.1	protein_coding	YES	CCDS7033.1			1788/2469									ovary(1)	1	c.(1786-1788)CTG>CTT			PROSITE_profiles:PS50069,hmmpanther:PTHR11932,hmmpanther:PTHR11932:SF5,Gene3D:1ldjA05,Pfam_domain:PF00888,SMART_domains:SM00182,Superfamily_domains:SSF75632	anaphase-promoting complex subunit 2				ENSP00000314004		13-Oct									COSM3413483	13-Oct	.		ENST00000323927	Transcript			anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	ENSG00000176248	g.chr9:140074735C>A	19989			LOW								--	--	1																																		ANAPC2_uc004clq.1_Silent_p.L452L	1	1			p.L596L	NM_013366	NP_037498			1	ANC2_HUMAN	ANAPC2	HGNC	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	B4DJR9_HUMAN		10	1861	-	all_cancers(76;0.0926)		UPI0000043E1B	596					SNV	ANAPC2,synonymous_variant,p.=,ENST00000323927,NM_013366.3;ANAPC2,non_coding_transcript_exon_variant,,ENST00000483432,;ANAPC2,upstream_gene_variant,,ENST00000487917,;ANAPC2,downstream_gene_variant,,ENST00000495611,;ANAPC2,downstream_gene_variant,,ENST00000471131,;ANAPC2,upstream_gene_variant,,ENST00000493730,;ANAPC2,upstream_gene_variant,,ENST00000485970,;	uc004clr.1	c.1788G>T	1793/2632	2	2			c.1788G>T						9	SNP	c.(1786-1788)CTG>CTT	21	21			ovary(1)	1	Broad	anaphase-promoting complex subunit 2			140074735		0.607	ENSG00000176248	595	g.chr9:140074735C>A	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity							116.272344	KEEP	24	21	0.466666667	62	49	24	21	0.466666667	119.410424	62	49	0.327731	1	0	0	0	0	0	0	1	0	--	--		0	A			ANAPC2_uc004clq.1_Silent_p.L452L	90	GBM-06-2569-TP	p.L596L	C	ACTCACTGGACAGGATGACAG	NM_013366	NP_037498	140074735	Q9UJX6	ANC2_HUMAN	0	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	10	1861	-	A	A	all_cancers(76;0.0926)		Silent	596						
ANAPC4	0	broad.mit.edu	GRCh37	4	25416009	25416009	+	splice_donor_variant	Splice_Site	SNP	T	T	C			TCGA-81-5910-01	TCGA-81-5910-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315368.3:c.1685+2T>C		p.X562_splice	ENST00000315368	NM_013367.2			0			1			C		uc003gro.2	protein_coding	YES	CCDS3434.1			1685/2427									ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5	c.e23+2				anaphase-promoting complex subunit 4				ENSP00000318775											COSM3409238		.		ENST00000315368	Transcript			anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	ENSG00000053900	g.chr4:25416009T>C	19990			HIGH	23/28							--	--	1																																		ANAPC4_uc003grp.2_Splice_Site_p.S448_splice|ANAPC4_uc003grq.2_Splice_Site_p.S15_splice	1	1			p.S562_splice	NM_013367	NP_037499			1	APC4_HUMAN	ANAPC4	HGNC	Q9UJX5	APC4_HUMAN			D6RAP6_HUMAN		23	1814	+		Breast(46;0.0503)	UPI000013D583						SNV	ANAPC4,splice_donor_variant,,ENST00000315368,NM_013367.2;ANAPC4,splice_donor_variant,,ENST00000510092,NM_001286756.1;ANAPC4,splice_donor_variant,,ENST00000515848,;ANAPC4,non_coding_transcript_exon_variant,,ENST00000504256,;ANAPC4,upstream_gene_variant,,ENST00000506973,;ANAPC4,downstream_gene_variant,,ENST00000505842,;ANAPC4,downstream_gene_variant,,ENST00000503805,;	uc003gro.2	c.1685_splice	-/2685	5	3			c.1685_splice						4	SNP	c.e23+2	13	13			ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5	Broad	anaphase-promoting complex subunit 4			25416009		0.294	ENSG00000053900	596	g.chr4:25416009T>C	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity							51.632224	KEEP	6	12	-1	18	12	6	12	-1	52.081423	18	12	0.384615	1	0	0	0	0	0	0	0	1	--	--		0	C			ANAPC4_uc003grp.2_Splice_Site_p.S448_splice|ANAPC4_uc003grq.2_Splice_Site_p.S15_splice	289	GBM-81-5910-TP	p.S562_splice	T	TACCAGAAGGTAATTCTGTTT	NM_013367	NP_037499	25416009	Q9UJX5	APC4_HUMAN	0			23	1814	+	C	C		Breast(46;0.0503)	Splice_Site							
ANGEL2	90806	broad.mit.edu	GRCh37	1	213178541	213178541	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01	TCGA-06-0214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366962.3:c.968C>T	p.Thr323Met	p.T323M	ENST00000366962	NM_144567.3	323	aCg/aTg	0			1			A	T/M	uc001hjz.2	protein_coding	YES	CCDS1512.1			968/1635										0	c.(967-969)ACG>ATG			Superfamily_domains:SSF56219,Pfam_domain:PF03372,Gene3D:3.60.10.10,hmmpanther:PTHR12121:SF27,hmmpanther:PTHR12121	LOC90806 protein				ENSP00000355929		9-May	8.24E-06					1.50E-05			rs771489874,COSM3400284	9-May	.		ENST00000366962	Transcript						ENSG00000174606	g.chr1:213178541G>A	30534			MODERATE		0.49	neutral	getma.org/?cm=msa&ty=f&p=ANGE2_HUMAN&rb=170&re=533&var=T323M	getma.org/pdb.php?prot=ANGE2_HUMAN&from=170&to=533&var=T323M	getma.org/?cm=var&var=hg19,1,213178541,G,A&fts=all	T323M	--	--	1																																		ANGEL2_uc010pto.1_Missense_Mutation_p.T197M|ANGEL2_uc010ptp.1_Missense_Mutation_p.T197M|ANGEL2_uc001hka.2_Missense_Mutation_p.T154M|ANGEL2_uc010ptq.1_RNA	0,1	1		probably_damaging(0.996)	p.T323M	NM_144567	NP_653168		deleterious(0)	0,1	ANGE2_HUMAN	ANGEL2	HGNC	Q5VTE6	ANGE2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)			5	1123	-			UPI00001D3EF4	323					SNV	ANGEL2,missense_variant,p.Thr323Met,ENST00000366962,NM_144567.3;ANGEL2,missense_variant,p.Thr154Met,ENST00000360506,;ANGEL2,missense_variant,p.Thr154Met,ENST00000544555,;ANGEL2,missense_variant,p.Thr197Met,ENST00000540642,;ANGEL2,missense_variant,p.Thr154Met,ENST00000535388,;ANGEL2,non_coding_transcript_exon_variant,,ENST00000476904,;ANGEL2,upstream_gene_variant,,ENST00000473303,;ANGEL2,downstream_gene_variant,,ENST00000460337,;ANGEL2,downstream_gene_variant,,ENST00000481918,;ANGEL2,upstream_gene_variant,,ENST00000498650,;	uc001hjz.2	c.968C>T	1123/4649	2	2			c.968C>T						1	SNP	c.(967-969)ACG>ATG	44	44				0	Broad	LOC90806 protein			213178541		0.453	ENSG00000174606	601	g.chr1:213178541G>A										-10.686553	KEEP	9	6	-1	90	118	9	6	-1	27.005303	90	118	0.06701	1	0	0	0	0	1	0	0	0	--	--		0	A			ANGEL2_uc010pto.1_Missense_Mutation_p.T197M|ANGEL2_uc010ptp.1_Missense_Mutation_p.T197M|ANGEL2_uc001hka.2_Missense_Mutation_p.T154M|ANGEL2_uc010ptq.1_RNA	50	GBM-06-0214-TP	p.T323M	G	TGCCAATTGCGTCAGCTTAAT	NM_144567	NP_653168	213178541	Q5VTE6	ANGE2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	5	1123	-	A	A			Missense_Mutation	323						
ANGEL2	0	broad.mit.edu	GRCh37	1	213181756	213181756	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366962.3:c.438G>A	p.Thr146=	p.T146=	ENST00000366962	NM_144567.3	146	acG/acA	0			1			T	T	uc001hjz.2	protein_coding	YES	CCDS1512.1			438/1635										0	c.(436-438)ACG>ACA			hmmpanther:PTHR12121:SF27,hmmpanther:PTHR12121	LOC90806 protein				ENSP00000355929		9-Mar	1.65E-05			0.000232					rs749051875,COSM3400285	9-Mar	.		ENST00000366962	Transcript						ENSG00000174606	g.chr1:213181756C>T	30534			LOW								--	--	1																																		ANGEL2_uc010pto.1_Silent_p.T20T|ANGEL2_uc010ptp.1_Silent_p.T20T|ANGEL2_uc001hka.2_5'UTR|ANGEL2_uc010ptq.1_RNA|ANGEL2_uc001hkb.2_Silent_p.T124T	0,1	1			p.T146T	NM_144567	NP_653168			0,1	ANGE2_HUMAN	ANGEL2	HGNC	Q5VTE6	ANGE2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)			3	593	-			UPI00001D3EF4	146					SNV	ANGEL2,synonymous_variant,p.=,ENST00000366962,NM_144567.3;ANGEL2,synonymous_variant,p.=,ENST00000540642,;ANGEL2,5_prime_UTR_variant,,ENST00000360506,;ANGEL2,5_prime_UTR_variant,,ENST00000544555,;ANGEL2,5_prime_UTR_variant,,ENST00000535388,;ANGEL2,non_coding_transcript_exon_variant,,ENST00000460337,;ANGEL2,non_coding_transcript_exon_variant,,ENST00000476904,;ANGEL2,non_coding_transcript_exon_variant,,ENST00000481918,;	uc001hjz.2	c.438G>A	593/4649	2	2			c.438G>A						1	SNP	c.(436-438)ACG>ACA	29	29				0	Broad	LOC90806 protein			213181756		0.323	ENSG00000174606	601	g.chr1:213181756C>T										411.182225	KEEP	60	74	-1	47	46	60	74	-1	412.741261	47	46	0.591549	1	0	0	0	0	0	0	1	0	--	--		0	T			ANGEL2_uc010pto.1_Silent_p.T20T|ANGEL2_uc010ptp.1_Silent_p.T20T|ANGEL2_uc001hka.2_5'UTR|ANGEL2_uc010ptq.1_RNA|ANGEL2_uc001hkb.2_Silent_p.T124T	271	GBM-76-4932-TP	p.T146T	C	CTAGGATCTTCGTTTTTTCTT	NM_144567	NP_653168	213181756	Q5VTE6	ANGE2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	3	593	-	T	T			Silent	146						
ANGPT1	284	broad.mit.edu	GRCh37	8	108334165	108334165	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0221-01	TCGA-06-0221-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000517746.1:c.767A>G	p.Asp256Gly	p.D256G	ENST00000517746	NM_001199859.1	256	gAc/gGc	0			1			C	D/G	uc003ymn.2	protein_coding	YES	CCDS6306.1			767/1497									ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7	c.(766-768)GAC>GGC			hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF156	angiopoietin 1 precursor				ENSP00000428340		9-Apr									COSM3412673	9-Apr	.		ENST00000517746	Transcript			activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	ENSG00000154188	g.chr8:108334165T>C	484			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=ANGP1_HUMAN&rb=226&re=311&var=D256G	NA	getma.org/?cm=var&var=hg19,8,108334165,T,C&fts=all	D256G	--	--	1																																		ANGPT1_uc011lhv.1_Missense_Mutation_p.D56G|ANGPT1_uc003ymo.2_Missense_Mutation_p.D256G|ANGPT1_uc003ymp.3_Missense_Mutation_p.D56G	1	1		benign(0.26)	p.D256G	NM_001146	NP_001137		deleterious(0.04)	1	ANGP1_HUMAN	ANGPT1	HGNC	Q15389	ANGP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)		E5RFF4_HUMAN,B4E3G9_HUMAN,B4DTQ9_HUMAN		4	1235	-	Breast(1;5.06e-08)		UPI0000034766	256			Potential.		SNV	ANGPT1,missense_variant,p.Asp256Gly,ENST00000297450,;ANGPT1,missense_variant,p.Asp256Gly,ENST00000517746,NM_001199859.1,NM_001146.3;ANGPT1,missense_variant,p.Asp56Gly,ENST00000520734,;ANGPT1,missense_variant,p.Asp56Gly,ENST00000520052,;ANGPT1,non_coding_transcript_exon_variant,,ENST00000518386,;ANGPT1,non_coding_transcript_exon_variant,,ENST00000521950,;	uc003ymn.2	c.767A>G	1219/4311	3	3			c.767A>G						8	SNP	c.(766-768)GAC>GGC	3	3			ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7	Broad	angiopoietin 1 precursor			108334165		0.388	ENSG00000154188	602	g.chr8:108334165T>C	activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding							-9.317814	KEEP	3	10	-1	113	110	3	10	-1	28.798238	113	110	0.058824	1	0	0	0	0	1	0	0	0	--	--		0	C			ANGPT1_uc011lhv.1_Missense_Mutation_p.D56G|ANGPT1_uc003ymo.2_Missense_Mutation_p.D256G|ANGPT1_uc003ymp.3_Missense_Mutation_p.D56G	53	GBM-06-0221-TP	p.D256G	T	GTGGACTGTGTCCATCAGCTC	NM_001146	NP_001137	108334165	Q15389	ANGP1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)		4	1235	-	C	C	Breast(1;5.06e-08)		Missense_Mutation	256			Potential.			
ANGPT1	0	broad.mit.edu	GRCh37	8	108276567	108276567	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-12-0821-01	TCGA-12-0821-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000517746.1:c.1218A>G	p.Lys406=	p.K406=	ENST00000517746	NM_001199859.1	406	aaA/aaG	0			1			C	K	uc003ymn.2	protein_coding	YES	CCDS6306.1			1218/1497									ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7	c.(1216-1218)AAA>AAG			PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF156,Pfam_domain:PF00147,Gene3D:3.90.215.10,SMART_domains:SM00186,Superfamily_domains:SSF56496	angiopoietin 1 precursor				ENSP00000428340		9-Aug									COSM3412672	9-Aug	.		ENST00000517746	Transcript			activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	ENSG00000154188	g.chr8:108276567T>C	484			LOW								--	--	1																																		ANGPT1_uc011lhv.1_Silent_p.K206K|ANGPT1_uc003ymo.2_Silent_p.K405K	1	1			p.K406K	NM_001146	NP_001137			1	ANGP1_HUMAN	ANGPT1	HGNC	Q15389	ANGP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)		E5RFF4_HUMAN,B4E3G9_HUMAN,B4DTQ9_HUMAN		8	1686	-	Breast(1;5.06e-08)		UPI0000034766	406			Fibrinogen C-terminal.		SNV	ANGPT1,synonymous_variant,p.=,ENST00000297450,;ANGPT1,synonymous_variant,p.=,ENST00000517746,NM_001199859.1,NM_001146.3;ANGPT1,synonymous_variant,p.=,ENST00000520734,;ANGPT1,synonymous_variant,p.=,ENST00000520052,;ANGPT1,non_coding_transcript_exon_variant,,ENST00000518386,;	uc003ymn.2	c.1218A>G	1670/4311	3	3			c.1218A>G						8	SNP	c.(1216-1218)AAA>AAG	1	1			ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7	Broad	angiopoietin 1 precursor			108276567		0.393	ENSG00000154188	602	g.chr8:108276567T>C	activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding							234.368595	KEEP	57	27	-1	69	31	57	27	-1	234.866112	69	31	0.43949	1	0	0	0	0	0	0	1	0	--	--		0	C			ANGPT1_uc011lhv.1_Silent_p.K206K|ANGPT1_uc003ymo.2_Silent_p.K405K	123	GBM-12-0821-TP	p.K406K	T	CAGTGTGACCTTTTAAATACA	NM_001146	NP_001137	108276567	Q15389	ANGP1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)		8	1686	-	C	C	Breast(1;5.06e-08)		Silent	406			Fibrinogen C-terminal.			
ANGPT4	51378	broad.mit.edu	GRCh37	20	858921	858921	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0184-01	TCGA-06-0184-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381922.3:c.1103A>T	p.His368Leu	p.H368L	ENST00000381922	NM_015985.2	368	cAc/cTc	0			1			A	H/L	uc002wei.2	protein_coding	YES	CCDS13009.1			1103/1512									ovary(2)	2	c.(1102-1104)CAC>CTC			Gene3D:3.90.215.10,Pfam_domain:PF00147,PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF31,SMART_domains:SM00186,Superfamily_domains:SSF56496	angiopoietin 4 precursor				ENSP00000371347		9-Jul									COSM2150444	9-Jul	.		ENST00000381922	Transcript			anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	ENSG00000101280	g.chr20:858921T>A	487			MODERATE		3.86	high	getma.org/?cm=msa&ty=f&p=ANGP4_HUMAN&rb=287&re=501&var=H368L	getma.org/pdb.php?prot=ANGP4_HUMAN&from=287&to=501&var=H368L	getma.org/?cm=var&var=hg19,20,858921,T,A&fts=all	H368L	--	--	1																																		ANGPT4_uc010zpn.1_Missense_Mutation_p.H362L	1	1		probably_damaging(0.939)	p.H368L	NM_015985	NP_057069		deleterious(0.02)	1	ANGP4_HUMAN	ANGPT4	HGNC	Q9Y264	ANGP4_HUMAN					7	1206	-			UPI0000062232	368			Fibrinogen C-terminal.		SNV	ANGPT4,missense_variant,p.His368Leu,ENST00000381922,NM_015985.2;ANGPT4,missense_variant,p.His368Leu,ENST00000546022,;	uc002wei.2	c.1103A>T	1206/1922	1	1			c.1103A>T						20	SNP	c.(1102-1104)CAC>CTC	52	52			ovary(2)	2	Broad	angiopoietin 4 precursor			858921		0.612	ENSG00000101280	604	g.chr20:858921T>A	anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	Pancreas(181;481 2077 3259 31286 49856)			Pancreas(181;481 2077 3259 31286 49856)			36.867019	KEEP	7	12	-1	40	29	7	12	-1	42.36	40	29	0.216216	1	0	0	0	0	1	0	0	0	--	--		0	A			ANGPT4_uc010zpn.1_Missense_Mutation_p.H362L	39	GBM-06-0184-TP	p.H368L	T	GGTGAGCTGGTGCACCACTTC	NM_015985	NP_057069	858921	Q9Y264	ANGP4_HUMAN	0			7	1206	-	A	A			Missense_Mutation	368			Fibrinogen C-terminal.			
ANGPT4	0	broad.mit.edu	GRCh37	20	853677	853677	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-1747-01	TCGA-28-1747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381922.3:c.1438C>T	p.Arg480Cys	p.R480C	ENST00000381922	NM_015985.2	480	Cgc/Tgc	0			1			A	R/C	uc002wei.2	protein_coding	YES	CCDS13009.1			1438/1512									ovary(2)	2	c.(1438-1440)CGC>TGC			Gene3D:4.10.530.10,Pfam_domain:PF00147,PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF31,SMART_domains:SM00186,Superfamily_domains:SSF56496	angiopoietin 4 precursor				ENSP00000371347		9-Sep									COSM3405301	9-Sep	.		ENST00000381922	Transcript			anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	ENSG00000101280	g.chr20:853677G>A	487			MODERATE		0.395	neutral	getma.org/?cm=msa&ty=f&p=ANGP4_HUMAN&rb=287&re=501&var=R480C	getma.org/pdb.php?prot=ANGP4_HUMAN&from=287&to=501&var=R480C	getma.org/?cm=var&var=hg19,20,853677,G,A&fts=all	R480C	--	--	1																																		ANGPT4_uc010zpn.1_3'UTR	1	1		probably_damaging(1)	p.R480C	NM_015985	NP_057069		deleterious(0)	1	ANGP4_HUMAN	ANGPT4	HGNC	Q9Y264	ANGP4_HUMAN					9	1541	-			UPI0000062232	480			Fibrinogen C-terminal.		SNV	ANGPT4,missense_variant,p.Arg480Cys,ENST00000381922,NM_015985.2;ANGPT4,3_prime_UTR_variant,,ENST00000546022,;	uc002wei.2	c.1438C>T	1541/1922	2	2			c.1438C>T						20	SNP	c.(1438-1440)CGC>TGC	33	33			ovary(2)	2	Broad	angiopoietin 4 precursor			853677		0.587	ENSG00000101280	604	g.chr20:853677G>A	anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	Pancreas(181;481 2077 3259 31286 49856)			Pancreas(181;481 2077 3259 31286 49856)			113.650347	KEEP	26	21	-1	38	42	26	21	-1	115.89338	38	42	0.345794	1	0	0	0	0	1	0	0	0	--	--		0	A			ANGPT4_uc010zpn.1_3'UTR	206	GBM-28-1747-TP	p.R480C	G	TAGTGCCAGCGGATGCCGTCC	NM_015985	NP_057069	853677	Q9Y264	ANGP4_HUMAN	0			9	1541	-	A	A			Missense_Mutation	480			Fibrinogen C-terminal.			
ANGPT4	51378		GRCh37	20	869018	869018	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000381922.3:c.530T>C	p.Leu177Pro	p.L177P	ENST00000381922	NM_015985.2	177	cTg/cCg	0																																																																																																																																																																																																																																												
ANGPTL1	9068	broad.mit.edu	GRCh37	1	178834371	178834371	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0155-01	TCGA-06-0155-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000234816.2:c.541T>C	p.Ser181Pro	p.S181P	ENST00000234816	NM_004673.3	181	Tcc/Ccc	0			1			G	S/P	uc001gma.2	protein_coding	YES	CCDS1327.1			541/1476										0	c.(541-543)TCC>CCC			hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF25	angiopoietin-like 1 precursor				ENSP00000234816		6-Mar									COSM2150011	6-Mar	.		ENST00000234816	Transcript				extracellular space	receptor binding	ENSG00000116194	g.chr1:178834371A>G	489			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=ANGL1_HUMAN&rb=1&re=275&var=S181P	NA	getma.org/?cm=var&var=hg19,1,178834371,A,G&fts=all	S181P	--	--	1																																		RALGPS2_uc001gly.1_Intron|RALGPS2_uc001glz.2_Intron|RALGPS2_uc010pnb.1_Intron|ANGPTL1_uc001gmb.2_Missense_Mutation_p.S181P|ANGPTL1_uc010pnc.1_Missense_Mutation_p.S103P	1	1		benign(0.078)	p.S181P	NM_004673	NP_004664		tolerated(0.25)	1	ANGL1_HUMAN	ANGPTL1	HGNC	O95841	ANGL1_HUMAN					3	1017	-			UPI000004C64E	181					SNV	ANGPTL1,missense_variant,p.Ser181Pro,ENST00000234816,NM_004673.3;ANGPTL1,missense_variant,p.Ser181Pro,ENST00000367629,;RALGPS2,intron_variant,,ENST00000367635,NM_152663.3;RALGPS2,intron_variant,,ENST00000367634,NM_001286247.1;RALGPS2,intron_variant,,ENST00000324778,;ANGPTL1,downstream_gene_variant,,ENST00000444255,;RALGPS2,intron_variant,,ENST00000495034,;	uc001gma.2	c.541T>C	989/3348	3	3			c.541T>C						1	SNP	c.(541-543)TCC>CCC	64	64				0	Broad	angiopoietin-like 1 precursor			178834371		0.423	ENSG00000116194	605	g.chr1:178834371A>G		extracellular space	receptor binding							150.141605	KEEP	16	31	-1	42	51	16	31	-1	153.211357	42	51	0.338346	1	0	0	0	0	1	0	0	0	--	--		0	G			RALGPS2_uc001gly.1_Intron|RALGPS2_uc001glz.2_Intron|RALGPS2_uc010pnb.1_Intron|ANGPTL1_uc001gmb.2_Missense_Mutation_p.S181P|ANGPTL1_uc010pnc.1_Missense_Mutation_p.S103P	27	GBM-06-0155-TP	p.S181P	A	TCAGTCAAGGAAGCGTATTTC	NM_004673	NP_004664	178834371	O95841	ANGL1_HUMAN	0			3	1017	-	G	G			Missense_Mutation	181						
ANGPTL1	9068		GRCh37	1	178822880	178822880	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000234816.2:c.866C>T	p.Ser289Leu	p.S289L	ENST00000234816	NM_004673.3	289	tCg/tTg	0																																																																																																																																																																																																																																												
ANGPTL5	0	broad.mit.edu	GRCh37	11	101762250	101762250	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-26-5136-01	TCGA-26-5136-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334289.3:c.927G>A	p.Gly309=	p.G309=	ENST00000334289	NM_178127.4	309	ggG/ggA	0			1			T	G	uc001pgl.2	protein_coding	YES	CCDS8312.1			927/1167									ovary(1)	1	c.(925-927)GGG>GGA			Gene3D:4.10.530.10,Pfam_domain:PF00147,PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF185,SMART_domains:SM00186,Superfamily_domains:SSF56496	angiopoietin-like 5 precursor				ENSP00000335255		9-Sep									COSM2157112	9-Sep	.		ENST00000334289	Transcript			signal transduction	extracellular space	receptor binding	ENSG00000187151	g.chr11:101762250C>T	19705			LOW								--	--	1																																			1	1			p.G309G	NM_178127	NP_835228			1	ANGL5_HUMAN	ANGPTL5	HGNC	Q86XS5	ANGL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0328)			9	1523	-		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)	UPI000015F945	309			Fibrinogen C-terminal.		SNV	ANGPTL5,synonymous_variant,p.=,ENST00000334289,NM_178127.4;ANGPTL5,downstream_gene_variant,,ENST00000534527,;	uc001pgl.2	c.927G>A	1523/2368	1	1			c.927G>A						11	SNP	c.(925-927)GGG>GGA	4	4			ovary(1)	1	Broad	angiopoietin-like 5 precursor			101762250		0.443	ENSG00000187151	609	g.chr11:101762250C>T	signal transduction	extracellular space	receptor binding							210.975141	KEEP	40	36	-1	53	58	40	36	-1	212.651531	53	58	0.396648	1	0	0	0	0	0	0	1	0	--	--		0	T				185	GBM-26-5136-TP	p.G309G	C	CAGGGCGACACCCATCATTAT	NM_178127	NP_835228	101762250	Q86XS5	ANGL5_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;0.0328)	9	1523	-	T	T		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)	Silent	309			Fibrinogen C-terminal.			
ANGPTL5	253935		GRCh37	11	101762058	101762058	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000334289.3:c.1119A>T	p.Lys373Asn	p.K373N	ENST00000334289	NM_178127.4	373	aaA/aaT	0																																																																																																																																																																																																																																												
ANK1	286	broad.mit.edu	GRCh37	8	41521227	41521227	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01	TCGA-06-2565-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265709.8:c.5551G>A	p.Val1851Met	p.V1851M	ENST00000265709	NM_001142446.1	1851	Gtg/Atg	0			1			T	V/M	uc003xok.2	protein_coding		CCDS6119.1			5428/5646									ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	c.(5428-5430)GTG>ATG			hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF11	ankyrin 1 isoform 1				ENSP00000339620		40/42	8.24E-06					1.50E-05			rs780824103,COSM2153033,COSM2153032,COSM2153034	40/42	.		ENST00000347528	Transcript	1		axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	ENSG00000029534	g.chr8:41521227C>T	492			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=ANK1_HUMAN&rb=1688&re=1881&var=V1810M	NA	getma.org/?cm=var&var=hg19,8,41521227,C,T&fts=all	V1810M	--	--	1																																		NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.V964M|ANK1_uc003xoi.2_Missense_Mutation_p.V1810M|ANK1_uc003xoj.2_Missense_Mutation_p.V1810M|ANK1_uc003xol.2_Missense_Mutation_p.V1648M|ANK1_uc003xom.2_Missense_Mutation_p.V1851M|ANK1_uc011lcl.1_Missense_Mutation_p.V85M|ANK1_uc003xod.2_Missense_Mutation_p.V85M|ANK1_uc003xoc.2_Missense_Mutation_p.V85M|ANK1_uc003xof.2_Missense_Mutation_p.V85M	0,1,1,1			possibly_damaging(0.746)	p.V1810M	NM_020476	NP_065209		deleterious_low_confidence(0.01)	0,1,1,1	ANK1_HUMAN	ANK1	HGNC	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		Q9UMG4_HUMAN		40	5512	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	UPI000013DF99	1810			55 kDa regulatory domain.		SNV	ANK1,missense_variant,p.Val1810Met,ENST00000396942,;ANK1,missense_variant,p.Val1810Met,ENST00000289734,NM_000037.3;ANK1,missense_variant,p.Val1810Met,ENST00000347528,NM_020477.2,NM_020476.2,NM_020475.2;ANK1,missense_variant,p.Val1810Met,ENST00000352337,;ANK1,missense_variant,p.Val1810Met,ENST00000379758,;ANK1,missense_variant,p.Val1851Met,ENST00000265709,NM_001142446.1;ANK1,missense_variant,p.Val970Met,ENST00000520299,;ANK1,missense_variant,p.Val85Met,ENST00000457297,NM_020480.4;ANK1,missense_variant,p.Val85Met,ENST00000314214,NM_020478.4;ANK1,missense_variant,p.Val85Met,ENST00000522543,NM_001142445.1;ANK1,missense_variant,p.Val85Met,ENST00000522231,;ANK1,missense_variant,p.Val85Met,ENST00000348036,;ANK1,missense_variant,p.Val85Met,ENST00000335651,;ANK1,intron_variant,,ENST00000396945,;MIR486,downstream_gene_variant,,ENST00000408108,;RP11-930P14.1,intron_variant,,ENST00000522388,;RP11-930P14.1,intron_variant,,ENST00000520418,;RP11-930P14.1,intron_variant,,ENST00000585088,;ANK1,non_coding_transcript_exon_variant,,ENST00000524227,;ANK1,non_coding_transcript_exon_variant,,ENST00000518715,;ANK1,downstream_gene_variant,,ENST00000518061,;	uc003xok.2	c.5428G>A	5512/8237	1	1			c.5428G>A						8	SNP	c.(5428-5430)GTG>ATG	8	8			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Broad	ankyrin 1 isoform 1			41521227		0.537	ENSG00000029534	612	g.chr8:41521227C>T	axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton							203.552328	KEEP	33	42	-1	40	55	33	42	-1	204.305905	40	55	0.424837	1	0	0	0	0	1	0	0	0	--	--		0	T			NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.V964M|ANK1_uc003xoi.2_Missense_Mutation_p.V1810M|ANK1_uc003xoj.2_Missense_Mutation_p.V1810M|ANK1_uc003xol.2_Missense_Mutation_p.V1648M|ANK1_uc003xom.2_Missense_Mutation_p.V1851M|ANK1_uc011lcl.1_Missense_Mutation_p.V85M|ANK1_uc003xod.2_Missense_Mutation_p.V85M|ANK1_uc003xoc.2_Missense_Mutation_p.V85M|ANK1_uc003xof.2_Missense_Mutation_p.V85M	88	GBM-06-2565-TP	p.V1810M	C	TCCTCTGTCACCTGCTCCCCT	NM_020476	NP_065209	41521227	P16157	ANK1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		40	5512	-	T	T	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	Missense_Mutation	1810			55 kDa regulatory domain.			
ANK1	0	broad.mit.edu	GRCh37	8	41530099	41530099	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000347528.4:c.4869C>T	p.Asp1623=	p.D1623=	ENST00000347528	NM_020477.2	1623	gaC/gaT	0			1			A	D	uc003xok.2	protein_coding		CCDS6119.1			4869/5646									ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	c.(4867-4869)GAC>GAT			hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF11	ankyrin 1 isoform 1				ENSP00000339620		38/42	2.47E-05					3.00E-05		6.06E-05	rs776829174,COSM3413023,COSM3413022	38/42	.		ENST00000347528	Transcript	1		axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	ENSG00000029534	g.chr8:41530099G>A	492			LOW								--	--	1																																		NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Intron|ANK1_uc003xoi.2_Silent_p.D1623D|ANK1_uc003xoj.2_Silent_p.D1623D|ANK1_uc003xol.2_Intron|ANK1_uc003xom.2_Silent_p.D1664D	0,1,1				p.D1623D	NM_020476	NP_065209			0,1,1	ANK1_HUMAN	ANK1	HGNC	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		Q9UMG4_HUMAN		38	4953	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	UPI000013DF99	1623			55 kDa regulatory domain.		SNV	ANK1,synonymous_variant,p.=,ENST00000396942,;ANK1,synonymous_variant,p.=,ENST00000289734,NM_000037.3;ANK1,synonymous_variant,p.=,ENST00000347528,NM_020477.2,NM_020476.2,NM_020475.2;ANK1,synonymous_variant,p.=,ENST00000352337,;ANK1,synonymous_variant,p.=,ENST00000379758,;ANK1,synonymous_variant,p.=,ENST00000396945,;ANK1,synonymous_variant,p.=,ENST00000265709,NM_001142446.1;ANK1,intron_variant,,ENST00000520299,;ANK1,non_coding_transcript_exon_variant,,ENST00000524227,;ANK1,intron_variant,,ENST00000518061,;	uc003xok.2	c.4869C>T	4953/8237	2	2			c.4869C>T						8	SNP	c.(4867-4869)GAC>GAT	33	33			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Broad	ankyrin 1 isoform 1			41530099		0.562	ENSG00000029534	612	g.chr8:41530099G>A	axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton							42.285149	KEEP	17	23	-1	130	160	17	23	-1	82.844971	130	160	0.123288	1	0	0	0	0	0	0	1	0	--	--		0	A			NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Intron|ANK1_uc003xoi.2_Silent_p.D1623D|ANK1_uc003xoj.2_Silent_p.D1623D|ANK1_uc003xol.2_Intron|ANK1_uc003xom.2_Silent_p.D1664D	160	GBM-19-1790-TP	p.D1623D	G	CCACTGTGTCGTCCTCCACAA	NM_020476	NP_065209	41530099	P16157	ANK1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		38	4953	-	A	A	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	Silent	1623			55 kDa regulatory domain.			
ANK1	0	broad.mit.edu	GRCh37	8	41519452	41519452	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01	TCGA-26-5132-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000347528.4:c.5486G>A	p.Arg1829His	p.R1829H	ENST00000347528	NM_020477.2	1829	cGc/cAc	0			1			T	R/H	uc003xok.2	protein_coding		CCDS6119.1			5486/5646									ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	c.(5485-5487)CGC>CAC			hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF11	ankyrin 1 isoform 1				ENSP00000339620		41/42	8.24E-06							6.07E-05	rs370175565,COSM2156938,COSM2156937,COSM2156939	41/42	.		ENST00000347528	Transcript	1		axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	ENSG00000029534	g.chr8:41519452C>T	492			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=ANK1_HUMAN&rb=1688&re=1881&var=R1829H	NA	getma.org/?cm=var&var=hg19,8,41519452,C,T&fts=all	R1829H	--	--	1																																		NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.R983H|ANK1_uc003xoi.2_Missense_Mutation_p.R1829H|ANK1_uc003xoj.2_Missense_Mutation_p.R1829H|ANK1_uc003xol.2_Missense_Mutation_p.R1667H|ANK1_uc003xom.2_Missense_Mutation_p.R1870H|ANK1_uc011lcl.1_Missense_Mutation_p.R104H|ANK1_uc003xod.2_Missense_Mutation_p.R104H|ANK1_uc003xoc.2_Missense_Mutation_p.R104H|ANK1_uc003xof.2_Intron|MIR486_hsa-mir-486|MI0002470_5'Flank	0,1,1,1			possibly_damaging(0.542)	p.R1829H	NM_020476	NP_065209		deleterious_low_confidence(0)	0,1,1,1	ANK1_HUMAN	ANK1	HGNC	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		Q9UMG4_HUMAN		41	5570	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	UPI000013DF99	1829	R->G: Abolishes interaction with OBSCN (in isoform Mu17).		55 kDa regulatory domain.		SNV	ANK1,missense_variant,p.Arg1829His,ENST00000396942,;ANK1,missense_variant,p.Arg1829His,ENST00000289734,NM_000037.3;ANK1,missense_variant,p.Arg1829His,ENST00000347528,NM_020477.2,NM_020476.2,NM_020475.2;ANK1,missense_variant,p.Arg1870His,ENST00000265709,NM_001142446.1;ANK1,missense_variant,p.Arg989His,ENST00000520299,;ANK1,missense_variant,p.Arg104His,ENST00000314214,NM_020478.4;ANK1,missense_variant,p.Arg104His,ENST00000522543,NM_001142445.1;ANK1,missense_variant,p.Arg104His,ENST00000522231,;ANK1,intron_variant,,ENST00000352337,;ANK1,intron_variant,,ENST00000379758,;ANK1,intron_variant,,ENST00000396945,;ANK1,intron_variant,,ENST00000457297,NM_020480.4;ANK1,intron_variant,,ENST00000348036,;ANK1,intron_variant,,ENST00000335651,;MIR486,downstream_gene_variant,,ENST00000408108,;RP11-930P14.1,intron_variant,,ENST00000522388,;RP11-930P14.1,intron_variant,,ENST00000520418,;RP11-930P14.1,intron_variant,,ENST00000585088,;ANK1,non_coding_transcript_exon_variant,,ENST00000524227,;ANK1,non_coding_transcript_exon_variant,,ENST00000518715,;	uc003xok.2	c.5486G>A	5570/8237	1	1			c.5486G>A						8	SNP	c.(5485-5487)CGC>CAC	7	7			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Broad	ankyrin 1 isoform 1			41519452		0.423	ENSG00000029534	612	g.chr8:41519452C>T	axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton							126.807881	KEEP	20	29	-1	44	45	20	29	-1	128.814835	44	45	0.361345	1	0	0	0	0	1	0	0	0	--	--		0	T			NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.R983H|ANK1_uc003xoi.2_Missense_Mutation_p.R1829H|ANK1_uc003xoj.2_Missense_Mutation_p.R1829H|ANK1_uc003xol.2_Missense_Mutation_p.R1667H|ANK1_uc003xom.2_Missense_Mutation_p.R1870H|ANK1_uc011lcl.1_Missense_Mutation_p.R104H|ANK1_uc003xod.2_Missense_Mutation_p.R104H|ANK1_uc003xoc.2_Missense_Mutation_p.R104H|ANK1_uc003xof.2_Intron|MIR486_hsa-mir-486|MI0002470_5'Flank	181	GBM-26-5132-TP	p.R1829H	C	AACCACCTTGCGAATGATCTA	NM_020476	NP_065209	41519452	P16157	ANK1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		41	5570	-	T	T	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	Missense_Mutation	1829	R->G: Abolishes interaction with OBSCN (in isoform Mu17).		55 kDa regulatory domain.			
ANK1	0	broad.mit.edu	GRCh37	8	41543721	41543721	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-27-1838-01	TCGA-27-1838-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000347528.4:c.4339A>T	p.Ser1447Cys	p.S1447C	ENST00000347528	NM_020477.2	1447	Agt/Tgt	0			1			A	S/C	uc003xok.2	protein_coding		CCDS6119.1			4339/5646									ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	c.(4339-4341)AGT>TGT			PROSITE_profiles:PS50017,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF11,Gene3D:1.10.533.10,Pfam_domain:PF00531,SMART_domains:SM00005,Superfamily_domains:SSF47986	ankyrin 1 isoform 1				ENSP00000339620		36/42									COSM3413025,COSM3413024	36/42	.		ENST00000347528	Transcript	1		axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	ENSG00000029534	g.chr8:41543721T>A	492			MODERATE		1.6	low	getma.org/?cm=msa&ty=f&p=ANK1_HUMAN&rb=1404&re=1487&var=S1447C	getma.org/pdb.php?prot=ANK1_HUMAN&from=1404&to=1487&var=S1447C	getma.org/?cm=var&var=hg19,8,41543721,T,A&fts=all	S1447C	--	--	1																																		NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.S763C|ANK1_uc003xoi.2_Missense_Mutation_p.S1447C|ANK1_uc003xoj.2_Missense_Mutation_p.S1447C|ANK1_uc003xol.2_Missense_Mutation_p.S1447C|ANK1_uc003xom.2_Missense_Mutation_p.S1488C	1,1			probably_damaging(0.997)	p.S1447C	NM_020476	NP_065209		deleterious(0)	1,1	ANK1_HUMAN	ANK1	HGNC	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		Q9UMG4_HUMAN		36	4423	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	UPI000013DF99	1447			55 kDa regulatory domain.|Death.		SNV	ANK1,missense_variant,p.Ser1447Cys,ENST00000396942,;ANK1,missense_variant,p.Ser1447Cys,ENST00000289734,NM_000037.3;ANK1,missense_variant,p.Ser1447Cys,ENST00000347528,NM_020477.2,NM_020476.2,NM_020475.2;ANK1,missense_variant,p.Ser1447Cys,ENST00000352337,;ANK1,missense_variant,p.Ser1447Cys,ENST00000379758,;ANK1,missense_variant,p.Ser1447Cys,ENST00000396945,;ANK1,missense_variant,p.Ser1488Cys,ENST00000265709,NM_001142446.1;ANK1,missense_variant,p.Ser769Cys,ENST00000520299,;ANK1,missense_variant,p.Ser99Cys,ENST00000518061,;ANK1,non_coding_transcript_exon_variant,,ENST00000524227,;	uc003xok.2	c.4339A>T	4423/8237	2	2			c.4339A>T						8	SNP	c.(4339-4341)AGT>TGT	44	44			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Broad	ankyrin 1 isoform 1			41543721		0.557	ENSG00000029534	612	g.chr8:41543721T>A	axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton							79.408018	KEEP	16	15	-1	33	43	16	15	-1	83.428572	33	43	0.291262	1	0	0	0	0	1	0	0	0	--	--		0	A			NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.S763C|ANK1_uc003xoi.2_Missense_Mutation_p.S1447C|ANK1_uc003xoj.2_Missense_Mutation_p.S1447C|ANK1_uc003xol.2_Missense_Mutation_p.S1447C|ANK1_uc003xom.2_Missense_Mutation_p.S1488C	197	GBM-27-1838-TP	p.S1447C	T	AAGGCCACACTCTGCTCCAAC	NM_020476	NP_065209	41543721	P16157	ANK1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		36	4423	-	A	A	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	Missense_Mutation	1447			55 kDa regulatory domain.|Death.			
ANK1	0	broad.mit.edu	GRCh37	8	41753935	41753935	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-27-2527-01	TCGA-27-2527-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265709.8:c.64C>G	p.Gln22Glu	p.Q22E	ENST00000265709	NM_001142446.1	22	Cag/Gag	0			1			C	Q/E	uc003xom.2	protein_coding	YES	CCDS47849.1			64/5694									ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	c.(64-66)CAG>GAG			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF11	ankyrin 1 isoform 9				ENSP00000265709		Jan-43									COSM3413027	Jan-43	.		ENST00000265709	Transcript	1		axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	ENSG00000029534	g.chr8:41753935G>C	492			MODERATE								--	--	1																																			1	1		benign(0.011)	p.Q22E	NM_001142446	NP_001135918		tolerated_low_confidence(0.41)	1	ANK1_HUMAN	ANK1	HGNC	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		Q9UMG4_HUMAN		1	346	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	UPI0000E4453A	Error:Variant_position_missing_in_P16157_after_alignment					SNV	ANK1,missense_variant,p.Gln22Glu,ENST00000265709,NM_001142446.1;	uc003xom.2	c.64C>G	346/6379	3	3			c.64C>G						8	SNP	c.(64-66)CAG>GAG	1	1			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Broad	ankyrin 1 isoform 9			41753935		0.637	ENSG00000029534	612	g.chr8:41753935G>C	axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton							6.752916	KEEP	2	4	-1	17	12	2	4	-1	9.710882	17	12	0.172414	1	0	0	0	0	1	0	0	0	--	--		0	C				204	GBM-27-2527-TP	p.Q22E	G	TTCTCCTTCTGCTCCTGGAGG	NM_001142446	NP_001135918	41753935	P16157	ANK1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		1	346	-	C	C	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	Missense_Mutation	Error:Variant_position_missing_in_P16157_after_alignment						
ANK1	286		GRCh37	8	41530255	41530255	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000265709.8:c.4836G>C	p.Ala1612=	p.A1612=	ENST00000265709	NM_001142446.1	1612	gcG/gcC	0																																																																																																																																																																																																																																												
ANK2	287	broad.mit.edu	GRCh37	4	114274747	114274747	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0649-01	TCGA-06-0649-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357077.4:c.4973T>C	p.Val1658Ala	p.V1658A	ENST00000357077	NM_001148.4	1658	gTt/gCt	0			1			C	V/A	uc003ibe.3	protein_coding	YES	CCDS3702.1			4973/11874									central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14	c.(4972-4974)GTT>GCT			hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17	ankyrin 2 isoform 1				ENSP00000349588		38/46									COSM3409010	38/46	.		ENST00000357077	Transcript	1		axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	ENSG00000145362	g.chr4:114274747T>C	493			MODERATE		-1.06	neutral	getma.org/?cm=msa&ty=f&p=ANK2_HUMAN&rb=1647&re=1772&var=V1658A	NA	getma.org/?cm=var&var=hg19,4,114274747,T,C&fts=all	V1658A	--	--	1																																		ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.V1673A	1	1		benign(0.001)	p.V1658A	NM_001148	NP_001139			1	ANK2_HUMAN	ANK2	HGNC	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	D6RHC5_HUMAN		38	5073	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	UPI0000441EF3	1625					SNV	ANK2,missense_variant,p.Val1658Ala,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Val1625Ala,ENST00000264366,;ANK2,missense_variant,p.Val1673Ala,ENST00000504454,;ANK2,missense_variant,p.Val1571Ala,ENST00000503423,;ANK2,intron_variant,,ENST00000506722,NM_001127493.1;ANK2,intron_variant,,ENST00000394537,NM_020977.3;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,upstream_gene_variant,,ENST00000505342,;ANK2,intron_variant,,ENST00000508007,;ANK2,downstream_gene_variant,,ENST00000512298,;	uc003ibe.3	c.4973T>C	5026/14196	4	4			c.4973T>C						4	SNP	c.(4972-4974)GTT>GCT	41	41			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14	Broad	ankyrin 2 isoform 1			114274747		0.473	ENSG00000145362	613	g.chr4:114274747T>C	axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding							-2.672634	KEEP	7	1	-1	62	64	7	1	-1	20.657789	62	64	0.066667	1	0	0	0	0	1	0	0	0	--	--		0	C			ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.V1673A	62	GBM-06-0649-TP	p.V1658A	T	CTGCAGACAGTTCAAGATAAG	NM_001148	NP_001139	114274747	Q01484	ANK2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	5073	+	C	C		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	Missense_Mutation	1625						
ANK2	0	broad.mit.edu	GRCh37	4	114251469	114251469	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-12-3649-01	TCGA-12-3649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357077.4:c.2968C>G	p.Arg990Gly	p.R990G	ENST00000357077	NM_001148.4	990	Cga/Gga	0			1			G	R/G	uc003ibe.3	protein_coding	YES	CCDS3702.1			2968/11874									central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14	c.(2968-2970)CGA>GGA			Pfam_domain:PF00791,PROSITE_profiles:PS51145,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17,SMART_domains:SM00218	ankyrin 2 isoform 1				ENSP00000349588		27/46									COSM3409005,COSM3409006	27/46	.		ENST00000357077	Transcript	1		axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	ENSG00000145362	g.chr4:114251469C>G	493			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=ANK2_HUMAN&rb=966&re=1070&var=R990G	getma.org/pdb.php?prot=ANK2_HUMAN&from=966&to=1070&var=R990G	getma.org/?cm=var&var=hg19,4,114251469,C,G&fts=all	R990G	--	--	1																																		ANK2_uc003ibd.3_Missense_Mutation_p.R981G|ANK2_uc003ibf.3_Missense_Mutation_p.R990G|ANK2_uc011cgc.1_Missense_Mutation_p.R199G|ANK2_uc003ibg.3_Missense_Mutation_p.R18G|ANK2_uc003ibc.2_Missense_Mutation_p.R966G|ANK2_uc011cgb.1_Missense_Mutation_p.R1005G	1,1	1		probably_damaging(1)	p.R990G	NM_001148	NP_001139			1,1	ANK2_HUMAN	ANK2	HGNC	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	D6RHC5_HUMAN		27	3068	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	UPI0000441EF3	990			ZU5.|Interaction with SPTBN1.		SNV	ANK2,missense_variant,p.Arg990Gly,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Arg990Gly,ENST00000264366,;ANK2,missense_variant,p.Arg981Gly,ENST00000506722,NM_001127493.1;ANK2,missense_variant,p.Arg990Gly,ENST00000394537,NM_020977.3;ANK2,missense_variant,p.Arg1005Gly,ENST00000504454,;ANK2,missense_variant,p.Arg36Gly,ENST00000514960,;ANK2,missense_variant,p.Arg936Gly,ENST00000503423,;ANK2,missense_variant,p.Arg199Gly,ENST00000509550,;ANK2,missense_variant,p.Arg969Gly,ENST00000503271,;ANK2,non_coding_transcript_exon_variant,,ENST00000515644,;ANK2,upstream_gene_variant,,ENST00000514160,;	uc003ibe.3	c.2968C>G	3021/14196	3	3			c.2968C>G						4	SNP	c.(2968-2970)CGA>GGA	11	11			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14	Broad	ankyrin 2 isoform 1			114251469		0.473	ENSG00000145362	613	g.chr4:114251469C>G	axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding							64.258749	KEEP	11	11	-1	19	19	11	11	-1	65.229895	19	19	0.362069	1	0	0	0	0	1	0	0	0	--	--		0	G			ANK2_uc003ibd.3_Missense_Mutation_p.R981G|ANK2_uc003ibf.3_Missense_Mutation_p.R990G|ANK2_uc011cgc.1_Missense_Mutation_p.R199G|ANK2_uc003ibg.3_Missense_Mutation_p.R18G|ANK2_uc003ibc.2_Missense_Mutation_p.R966G|ANK2_uc011cgb.1_Missense_Mutation_p.R1005G	125	GBM-12-3649-TP	p.R990G	C	CAATGGGCTCCGAATCATTAT	NM_001148	NP_001139	114251469	Q01484	ANK2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	27	3068	+	G	G		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	Missense_Mutation	990			ZU5.|Interaction with SPTBN1.			
ANK2	0	broad.mit.edu	GRCh37	4	114279919	114279919	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-14-0871-01	TCGA-14-0871-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357077.4:c.10145T>C	p.Ile3382Thr	p.I3382T	ENST00000357077	NM_001148.4	3382	aTc/aCc	0			1			C	I/T	uc003ibe.3	protein_coding	YES	CCDS3702.1			10145/11874									central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14	c.(10144-10146)ATC>ACC			hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17	ankyrin 2 isoform 1				ENSP00000349588		38/46									COSM3409013	38/46	.		ENST00000357077	Transcript	1		axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	ENSG00000145362	g.chr4:114279919T>C	493			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=ANK2_HUMAN&rb=1998&re=3536&var=I3382T	NA	getma.org/?cm=var&var=hg19,4,114279919,T,C&fts=all	I3382T	--	--	1																																		ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.I684T|ANK2_uc011cgb.1_Missense_Mutation_p.I3397T	1	1		benign(0.002)	p.I3382T	NM_001148	NP_001139			1	ANK2_HUMAN	ANK2	HGNC	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	D6RHC5_HUMAN		38	10245	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	UPI0000441EF3	3349					SNV	ANK2,missense_variant,p.Ile3382Thr,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Ile3349Thr,ENST00000264366,;ANK2,missense_variant,p.Ile392Thr,ENST00000505342,;ANK2,intron_variant,,ENST00000506722,NM_001127493.1;ANK2,intron_variant,,ENST00000394537,NM_020977.3;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,downstream_gene_variant,,ENST00000504454,;ANK2,intron_variant,,ENST00000508007,;	uc003ibe.3	c.10145T>C	10198/14196	3	3			c.10145T>C						4	SNP	c.(10144-10146)ATC>ACC	62	62			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14	Broad	ankyrin 2 isoform 1			114279919		0.463	ENSG00000145362	613	g.chr4:114279919T>C	axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding							-27.644613	KEEP	4	4	-1	102	90	4	4	-1	14.587101	102	90	0.042553	1	0	0	0	0	1	0	0	0	--	--		0	C			ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.I684T|ANK2_uc011cgb.1_Missense_Mutation_p.I3397T	141	GBM-14-0871-TP	p.I3382T	T	ATGGCAAGCATCGCACCAGAT	NM_001148	NP_001139	114279919	Q01484	ANK2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	10245	+	C	C		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	Missense_Mutation	3349						
ANK2	0	broad.mit.edu	GRCh37	4	114276299	114276299	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-27-2526-01	TCGA-27-2526-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357077.4:c.6525C>G	p.Asn2175Lys	p.N2175K	ENST00000357077	NM_001148.4	2175	aaC/aaG	0			1			G	N/K	uc003ibe.3	protein_coding	YES	CCDS3702.1			6525/11874									central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14	c.(6523-6525)AAC>AAG			hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17	ankyrin 2 isoform 1				ENSP00000349588		38/46									COSM3409011	38/46	.		ENST00000357077	Transcript	1		axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	ENSG00000145362	g.chr4:114276299C>G	493			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=ANK2_HUMAN&rb=1998&re=3536&var=N2175K	NA	getma.org/?cm=var&var=hg19,4,114276299,C,G&fts=all	N2175K	--	--	1																																		ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.N2190K	1	1		benign(0.272)	p.N2175K	NM_001148	NP_001139			1	ANK2_HUMAN	ANK2	HGNC	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	D6RHC5_HUMAN		38	6625	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	UPI0000441EF3	2142					SNV	ANK2,missense_variant,p.Asn2175Lys,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Asn2142Lys,ENST00000264366,;ANK2,intron_variant,,ENST00000506722,NM_001127493.1;ANK2,intron_variant,,ENST00000394537,NM_020977.3;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,upstream_gene_variant,,ENST00000505342,;ANK2,downstream_gene_variant,,ENST00000504454,;ANK2,downstream_gene_variant,,ENST00000503423,;ANK2,intron_variant,,ENST00000508007,;ANK2,downstream_gene_variant,,ENST00000512298,;	uc003ibe.3	c.6525C>G	6578/14196	3	3			c.6525C>G						4	SNP	c.(6523-6525)AAC>AAG	54	54			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14	Broad	ankyrin 2 isoform 1			114276299		0.433	ENSG00000145362	613	g.chr4:114276299C>G	axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding							-17.365409	KEEP	0	3	-1	34	69	0	3	-1	7.455063	34	69	0.029412	1	0	0	0	0	1	0	0	0	--	--		0	G			ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.N2190K	203	GBM-27-2526-TP	p.N2175K	C	GTCCTTTCAACACAACATTTC	NM_001148	NP_001139	114276299	Q01484	ANK2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	6625	+	G	G		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	Missense_Mutation	2142						
ANK2	0	broad.mit.edu	GRCh37	4	114251595	114251595	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01	TCGA-32-4211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357077.4:c.3094G>A	p.Glu1032Lys	p.E1032K	ENST00000357077	NM_001148.4	1032	Gaa/Aaa	0			1			A	E/K	uc003ibe.3	protein_coding	YES	CCDS3702.1			3094/11874									central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14	c.(3094-3096)GAA>AAA			Pfam_domain:PF00791,PROSITE_profiles:PS51145,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17,SMART_domains:SM00218	ankyrin 2 isoform 1				ENSP00000349588		27/46	1.65E-05				0.000152			6.08E-05	rs775323997,COSM2157363,COSM3409007	27/46	.		ENST00000357077	Transcript	1		axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	ENSG00000145362	g.chr4:114251595G>A	493			MODERATE		1.52	low	getma.org/?cm=msa&ty=f&p=ANK2_HUMAN&rb=966&re=1070&var=E1032K	getma.org/pdb.php?prot=ANK2_HUMAN&from=966&to=1070&var=E1032K	getma.org/?cm=var&var=hg19,4,114251595,G,A&fts=all	E1032K	--	--	1																																		ANK2_uc003ibd.3_Missense_Mutation_p.E1023K|ANK2_uc003ibf.3_Missense_Mutation_p.E1032K|ANK2_uc011cgc.1_Missense_Mutation_p.E241K|ANK2_uc003ibg.3_Missense_Mutation_p.E60K|ANK2_uc003ibc.2_Missense_Mutation_p.E1008K|ANK2_uc011cgb.1_Missense_Mutation_p.E1047K	0,1,1	1		probably_damaging(0.999)	p.E1032K	NM_001148	NP_001139			0,1,1	ANK2_HUMAN	ANK2	HGNC	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	D6RHC5_HUMAN		27	3194	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	UPI0000441EF3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					SNV	ANK2,missense_variant,p.Glu1032Lys,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Glu1032Lys,ENST00000264366,;ANK2,missense_variant,p.Glu1023Lys,ENST00000506722,NM_001127493.1;ANK2,missense_variant,p.Glu1032Lys,ENST00000394537,NM_020977.3;ANK2,missense_variant,p.Glu1047Lys,ENST00000504454,;ANK2,missense_variant,p.Glu78Lys,ENST00000514960,;ANK2,missense_variant,p.Glu978Lys,ENST00000503423,;ANK2,missense_variant,p.Glu241Lys,ENST00000509550,;ANK2,missense_variant,p.Glu1011Lys,ENST00000503271,;ANK2,downstream_gene_variant,,ENST00000515644,;ANK2,upstream_gene_variant,,ENST00000514160,;	uc003ibe.3	c.3094G>A	3147/14196	1	1			c.3094G>A						4	SNP	c.(3094-3096)GAA>AAA	61	61			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14	Broad	ankyrin 2 isoform 1			114251595		0.532	ENSG00000145362	613	g.chr4:114251595G>A	axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding							51.76277	KEEP	11	15	-1	29	34	11	15	-1	56.13227	29	34	0.253165	1	0	0	0	0	1	0	0	0	--	--		0	A			ANK2_uc003ibd.3_Missense_Mutation_p.E1023K|ANK2_uc003ibf.3_Missense_Mutation_p.E1032K|ANK2_uc011cgc.1_Missense_Mutation_p.E241K|ANK2_uc003ibg.3_Missense_Mutation_p.E60K|ANK2_uc003ibc.2_Missense_Mutation_p.E1008K|ANK2_uc011cgb.1_Missense_Mutation_p.E1047K	246	GBM-32-4211-TP	p.E1032K	G	TCGCCTGATCGAAGTTGGACC	NM_001148	NP_001139	114251595	Q01484	ANK2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	27	3194	+	A	A		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	Missense_Mutation	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						
ANK2	287		GRCh37	4	114262932	114262932	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000357077.4:c.3982G>A	p.Ala1328Thr	p.A1328T	ENST00000357077	NM_001148.4	1328	Gcc/Acc	0																																																																																																																																																																																																																																												
ANK3	288	broad.mit.edu	GRCh37	10	61831909	61831909	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0141-01	TCGA-06-0141-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000280772.2:c.8730C>T	p.Asn2910=	p.N2910=	ENST00000280772	NM_020987.3	2910	aaC/aaT	0	A:0	A:0	1	A:0		A	N	uc001jky.2	protein_coding	YES	CCDS7258.1			8730/13134									skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19	c.(8728-8730)AAC>AAT			hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF15	ankyrin 3 isoform 1		A:0	A:0.0001	ENSP00000280772	A:0	37/44	9.88E-05		0.000697	0.000116		4.52E-05			rs370563122,COSM3397194	37/44	common_variant		ENST00000280772	Transcript	1	A:0.0000	establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	ENSG00000151150	g.chr10:61831909G>A	494			LOW								--	--	1																																		ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	0,1	1			p.N2910N	NM_020987	NP_066267	A:0		0,1	ANK3_HUMAN	ANK3	HGNC	Q12955	ANK3_HUMAN			D6RFK6_HUMAN,D6RBY7_HUMAN,B1AQT1_HUMAN		37	8922	-			UPI0000141BA9	2910					SNV	ANK3,synonymous_variant,p.=,ENST00000280772,NM_020987.3;ANK3,intron_variant,,ENST00000373827,NM_001204403.1;ANK3,intron_variant,,ENST00000503366,NM_001204404.1;ANK3,intron_variant,,ENST00000355288,NM_001149.3;ANK3,intron_variant,,ENST00000373820,;ANK3,intron_variant,,ENST00000511043,;	uc001jky.2	c.8730C>T	8922/16874	2	2			c.8730C>T						10	SNP	c.(8728-8730)AAC>AAT	19	19			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19	Broad	ankyrin 3 isoform 1			61831909		0.378	ENSG00000151150	614	g.chr10:61831909G>A	establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding							3.466094	KEEP	4	6	-1	52	51	4	6	-1	21.769134	52	51	0.091743	1	0	0	0	0	0	0	1	0	--	--		0	A			ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	21	GBM-06-0141-TP	p.N2910N	G	AGAGAGAGCCGTTTGTTAACA	NM_020987	NP_066267	61831909	Q12955	ANK3_HUMAN	0			37	8922	-	A	A			Silent	2910						
ANK3	288	broad.mit.edu	GRCh37	10	61829891	61829891	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000280772.2:c.10748C>T	p.Thr3583Met	p.T3583M	ENST00000280772	NM_020987.3	3583	aCg/aTg	0			1			A	T/M	uc001jky.2	protein_coding	YES	CCDS7258.1			10748/13134								p.T3583M(1)	skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19	c.(10747-10749)ACG>ATG			hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF15,Low_complexity_(Seg):seg	ankyrin 3 isoform 1				ENSP00000280772		37/44									COSM84012	37/44	.		ENST00000280772	Transcript	1		establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	ENSG00000151150	g.chr10:61829891G>A	494			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=ANK3_HUMAN&rb=3026&re=3614&var=T3583M	NA	getma.org/?cm=var&var=hg19,10,61829891,G,A&fts=all	T3583M	--	--	1																																		ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	1	1		probably_damaging(0.991)	p.T3583M	NM_020987	NP_066267			1	ANK3_HUMAN	ANK3	HGNC	Q12955	ANK3_HUMAN			D6RFK6_HUMAN,D6RBY7_HUMAN,B1AQT1_HUMAN		37	10940	-			UPI0000141BA9	3583					SNV	ANK3,missense_variant,p.Thr3583Met,ENST00000280772,NM_020987.3;ANK3,intron_variant,,ENST00000373827,NM_001204403.1;ANK3,intron_variant,,ENST00000503366,NM_001204404.1;ANK3,intron_variant,,ENST00000355288,NM_001149.3;ANK3,intron_variant,,ENST00000373820,;ANK3,intron_variant,,ENST00000511043,;	uc001jky.2	c.10748C>T	10940/16874	1	1			c.10748C>T						10	SNP	c.(10747-10749)ACG>ATG	53	53		p.T3583M(1)	skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19	Broad	ankyrin 3 isoform 1			61829891		0.488	ENSG00000151150	614	g.chr10:61829891G>A	establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding							127.638714	KEEP	29	20	-1	39	25	29	20	-1	127.828325	39	25	0.451613	1	0	0	0	0	1	0	0	0	--	--		0	A			ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	26	GBM-06-0154-TP	p.T3583M	G	TCTGGCTGGCGTTGTATCAGG	NM_020987	NP_066267	61829891	Q12955	ANK3_HUMAN	0			37	10940	-	A	A			Missense_Mutation	3583						
ANK3	0	broad.mit.edu	GRCh37	10	62149275	62149275	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-6695-01	TCGA-06-6695-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000280772.2:c.22T>G	p.Leu8Val	p.L8V	ENST00000280772	NM_020987.3	8	Tta/Gta	0			1			C	L/V	uc001jky.2	protein_coding	YES	CCDS7258.1			22/13134									skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19	c.(22-24)TTA>GTA			hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF15	ankyrin 3 isoform 1				ENSP00000280772		Jan-44									COSM3397196	Jan-44	.		ENST00000280772	Transcript	1		establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	ENSG00000151150	g.chr10:62149275A>C	494			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=ANK3_HUMAN&rb=1&re=45&var=L8V	NA	getma.org/?cm=var&var=hg19,10,62149275,A,C&fts=all	L8V	--	--	1																																		ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jlb.1_Intron	1	1		benign(0.341)	p.L8V	NM_020987	NP_066267			1	ANK3_HUMAN	ANK3	HGNC	Q12955	ANK3_HUMAN			D6RFK6_HUMAN,D6RBY7_HUMAN,B1AQT1_HUMAN		1	214	-			UPI0000141BA9	8					SNV	ANK3,missense_variant,p.Leu8Val,ENST00000280772,NM_020987.3;ANK3,intron_variant,,ENST00000373827,NM_001204403.1;ANK3,intron_variant,,ENST00000503366,NM_001204404.1;	uc001jky.2	c.22T>G	214/16874	4	4			c.22T>G						10	SNP	c.(22-24)TTA>GTA	33	33			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19	Broad	ankyrin 3 isoform 1			62149275		0.423	ENSG00000151150	614	g.chr10:62149275A>C	establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding							198.357725	KEEP	25	33	-1	12	17	25	33	-1	200.333634	12	17	0.671053	1	0	0	0	0	1	0	0	0	--	--		0	C			ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jlb.1_Intron	110	GBM-06-6695-TP	p.L8V	A	TTTTTCTTTAATTGTGAGGCT	NM_020987	NP_066267	62149275	Q12955	ANK3_HUMAN	0			1	214	-	C	C			Missense_Mutation	8						
ANK3	0	broad.mit.edu	GRCh37	10	61836046	61836046	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-1830-01	TCGA-27-1830-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000280772.2:c.4593G>A	p.Thr1531=	p.T1531=	ENST00000280772	NM_020987.3	1531	acG/acA	0			1			T	T	uc001jky.2	protein_coding	YES	CCDS7258.1			4593/13134									skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19	c.(4591-4593)ACG>ACA			hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF15,Low_complexity_(Seg):seg	ankyrin 3 isoform 1				ENSP00000280772		37/44	1.65E-05					1.50E-05		6.06E-05	rs746128899,COSM3397195	37/44	.		ENST00000280772	Transcript	1		establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	ENSG00000151150	g.chr10:61836046C>T	494			LOW								--	--	1																																		ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	0,1	1			p.T1531T	NM_020987	NP_066267			0,1	ANK3_HUMAN	ANK3	HGNC	Q12955	ANK3_HUMAN			D6RFK6_HUMAN,D6RBY7_HUMAN,B1AQT1_HUMAN		37	4785	-			UPI0000141BA9	1531			Ser-rich.		SNV	ANK3,synonymous_variant,p.=,ENST00000280772,NM_020987.3;ANK3,intron_variant,,ENST00000373827,NM_001204403.1;ANK3,intron_variant,,ENST00000503366,NM_001204404.1;ANK3,intron_variant,,ENST00000355288,NM_001149.3;ANK3,intron_variant,,ENST00000373820,;ANK3,intron_variant,,ENST00000511043,;	uc001jky.2	c.4593G>A	4785/16874	2	2			c.4593G>A						10	SNP	c.(4591-4593)ACG>ACA	35	35			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19	Broad	ankyrin 3 isoform 1			61836046		0.443	ENSG00000151150	614	g.chr10:61836046C>T	establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding							191.332293	KEEP	25	36	-1	26	36	25	36	-1	191.340012	26	36	0.508621	1	0	0	0	0	0	0	1	0	--	--		0	T			ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	189	GBM-27-1830-TP	p.T1531T	C	AAGCTGATGGCGTATTAGAGG	NM_020987	NP_066267	61836046	Q12955	ANK3_HUMAN	0			37	4785	-	T	T			Silent	1531			Ser-rich.			
ANKAR	0	broad.mit.edu	GRCh37	2	190603404	190603404	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-5299-01	TCGA-12-5299-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313581.4:c.3696G>A	p.Leu1232=	p.L1232=	ENST00000313581		1232	ttG/ttA	0			1			A	L	uc002uqw.1	protein_coding		CCDS33351.2			3696/4305									ovary(2)|pancreas(1)|skin(1)	4	c.(3481-3483)TTG>TTA			Gene3D:1.25.10.10,hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF62,Superfamily_domains:SSF48371	ankyrin and armadillo repeat containing				ENSP00000313513		18/22									COSM3407415,COSM3407414	18/22	.		ENST00000313581	Transcript				integral to membrane	binding	ENSG00000151687	g.chr2:190603404G>A	26350			LOW								--	--	1																																		ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqx.1_RNA|ANKAR_uc002uqy.1_Silent_p.L328L	1,1				p.L1161L	NM_144708	NP_653309			1,1	ANKAR_HUMAN	ANKAR	HGNC	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		J3KQB7_HUMAN		18	3483	+			UPI00001D7E11	1232					SNV	ANKAR,synonymous_variant,p.=,ENST00000520309,NM_144708.3;ANKAR,synonymous_variant,p.=,ENST00000313581,;ANKAR,synonymous_variant,p.=,ENST00000431575,;ANKAR,3_prime_UTR_variant,,ENST00000438402,;ANKAR,3_prime_UTR_variant,,ENST00000281412,;ANKAR,non_coding_transcript_exon_variant,,ENST00000476208,;ANKAR,intron_variant,,ENST00000474303,;ANKAR,3_prime_UTR_variant,,ENST00000433782,;ANKAR,3_prime_UTR_variant,,ENST00000441800,;	uc002uqw.1	c.3483G>A	3760/4391	2	2			c.3483G>A						2	SNP	c.(3481-3483)TTG>TTA	35	35			ovary(2)|pancreas(1)|skin(1)	4	Broad	ankyrin and armadillo repeat containing			190603404		0.294	ENSG00000151687	615	g.chr2:190603404G>A		integral to membrane	binding							183.877032	KEEP	29	38	-1	49	38	29	38	-1	184.500273	49	38	0.428571	1	0	0	0	0	0	0	1	0	--	--		0	A			ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqx.1_RNA|ANKAR_uc002uqy.1_Silent_p.L328L	130	GBM-12-5299-TP	p.L1161L	G	CTATTGTCTTGACAGGTAAGA	NM_144708	NP_653309	190603404	Q7Z5J8	ANKAR_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		18	3483	+	A	A			Silent	1232						
ANKAR	0	broad.mit.edu	GRCh37	2	190571779	190571779	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-19-2623-01	TCGA-19-2623-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313581.4:c.2026A>C	p.Ile676Leu	p.I676L	ENST00000313581		676	Atc/Ctc	0			1			C	I/L	uc002uqw.1	protein_coding		CCDS33351.2			2026/4305									ovary(2)|pancreas(1)|skin(1)	4	c.(1813-1815)ATC>CTC			Gene3D:1.25.40.20,PROSITE_profiles:PS50297,hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF62,SMART_domains:SM00248,Superfamily_domains:SSF48403	ankyrin and armadillo repeat containing				ENSP00000313513		22-Aug									COSM3407413,COSM3407412	22-Aug	.		ENST00000313581	Transcript				integral to membrane	binding	ENSG00000151687	g.chr2:190571779A>C	26350			MODERATE		-0.22	neutral	getma.org/?cm=msa&ty=f&p=ANKAR_HUMAN&rb=607&re=697&var=I676L	getma.org/pdb.php?prot=ANKAR_HUMAN&from=607&to=697&var=I676L	getma.org/?cm=var&var=hg19,2,190571779,A,C&fts=all	I676L	--	--	1																																		ANKAR_uc002uqu.2_RNA	1,1			possibly_damaging(0.669)	p.I605L	NM_144708	NP_653309		deleterious(0.01)	1,1	ANKAR_HUMAN	ANKAR	HGNC	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		J3KQB7_HUMAN		8	1813	+			UPI00001D7E11	676			ANK 5.		SNV	ANKAR,missense_variant,p.Ile676Leu,ENST00000520309,NM_144708.3;ANKAR,missense_variant,p.Ile676Leu,ENST00000313581,;ANKAR,missense_variant,p.Ile605Leu,ENST00000431575,;ANKAR,missense_variant,p.Ile676Leu,ENST00000438402,;ANKAR,missense_variant,p.Ile440Leu,ENST00000281412,;ANKAR,non_coding_transcript_exon_variant,,ENST00000464687,;ANKAR,missense_variant,p.Ile605Leu,ENST00000433782,;ANKAR,missense_variant,p.Ile440Leu,ENST00000441800,;	uc002uqw.1	c.1813A>C	2090/4391	3	3			c.1813A>C						2	SNP	c.(1813-1815)ATC>CTC	56	56			ovary(2)|pancreas(1)|skin(1)	4	Broad	ankyrin and armadillo repeat containing			190571779		0.343	ENSG00000151687	615	g.chr2:190571779A>C		integral to membrane	binding							161.483504	KEEP	23	23	-1	36	38	23	23	-1	162.524229	36	38	0.396396	1	0	0	0	0	1	0	0	0	--	--		0	C			ANKAR_uc002uqu.2_RNA	163	GBM-19-2623-TP	p.I605L	A	AAATAATATAATCCATTTATC	NM_144708	NP_653309	190571779	Q7Z5J8	ANKAR_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		8	1813	+	C	C			Missense_Mutation	676			ANK 5.			
ANKFN1	162282		GRCh37	17	54450196	54450196	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000318698.2:c.800A>T	p.His267Leu	p.H267L	ENST00000318698	NM_153228.2	267	cAt/cTt	0																																																																																																																																																																																																																																												
ANKFY1	0	broad.mit.edu	GRCh37	17	4084568	4084568	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01	TCGA-76-4935-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341657.4:c.2221G>A	p.Ala741Thr	p.A741T	ENST00000341657	NM_016376.3	741	Gcc/Acc	0			1			T	A/T	uc002fxq.1	protein_coding					2221/3510									ovary(2)|skin(1)	3	c.(2221-2223)GCC>ACC			Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR24189,PROSITE_profiles:PS50297	ankyrin repeat and FYVE domain containing 1				ENSP00000343362		16/25									COSM3402913	16/25	.		ENST00000341657	Transcript				endosome membrane	metal ion binding|protein binding	ENSG00000185722	g.chr17:4084568C>T	20763			MODERATE		0.96	low	getma.org/?cm=msa&ty=f&p=ANFY1_HUMAN&rb=729&re=836&var=A741T	getma.org/pdb.php?prot=ANFY1_HUMAN&from=729&to=836&var=A741T	getma.org/?cm=var&var=hg19,17,4084568,C,T&fts=all	A741T	--	--	1																																		ANKFY1_uc002fxn.2_Missense_Mutation_p.A783T|ANKFY1_uc002fxo.2_Missense_Mutation_p.A742T|ANKFY1_uc002fxp.2_Missense_Mutation_p.A740T|ANKFY1_uc010ckp.2_Missense_Mutation_p.A683T	1			benign(0.128)	p.A741T	NM_016376	NP_057460		deleterious(0.01)	1	ANFY1_HUMAN	ANKFY1	HGNC	Q9P2R3	ANFY1_HUMAN			I3L1Z9_HUMAN		16	2259	-			UPI0000038C5D	741			ANK 12.		SNV	ANKFY1,missense_variant,p.Ala741Thr,ENST00000341657,NM_016376.3;ANKFY1,missense_variant,p.Ala783Thr,ENST00000570535,NM_001257999.1;ANKFY1,missense_variant,p.Ala742Thr,ENST00000574367,;CYB5D2,intron_variant,,ENST00000573984,;ANKFY1,downstream_gene_variant,,ENST00000574736,;ANKFY1,downstream_gene_variant,,ENST00000573722,;ANKFY1,3_prime_UTR_variant,,ENST00000572412,;ANKFY1,non_coding_transcript_exon_variant,,ENST00000571547,;ANKFY1,upstream_gene_variant,,ENST00000572564,;	uc002fxq.1	c.2221G>A	2257/7418	1	1			c.2221G>A						17	SNP	c.(2221-2223)GCC>ACC	11	11			ovary(2)|skin(1)	3	Broad	ankyrin repeat and FYVE domain containing 1			4084568		0.522	ENSG00000185722	618	g.chr17:4084568C>T		endosome membrane	metal ion binding|protein binding							86.333782	KEEP	18	19	-1	43	37	18	19	-1	89.976449	43	37	0.305556	1	0	0	0	0	1	0	0	0	--	--		0	T			ANKFY1_uc002fxn.2_Missense_Mutation_p.A783T|ANKFY1_uc002fxo.2_Missense_Mutation_p.A742T|ANKFY1_uc002fxp.2_Missense_Mutation_p.A740T|ANKFY1_uc010ckp.2_Missense_Mutation_p.A683T	273	GBM-76-4935-TP	p.A741T	C	AGAAAGCAGGCGGTGGGCTCG	NM_016376	NP_057460	4084568	Q9P2R3	ANFY1_HUMAN	0			16	2259	-	T	T			Missense_Mutation	741			ANK 12.			
ANKHD1	0	broad.mit.edu	GRCh37	5	139889605	139889605	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360839.2:c.3943G>A	p.Gly1315Arg	p.G1315R	ENST00000360839	NM_017747.2	1315	Gga/Aga	0			1			A	G/R	uc003lfs.1	protein_coding		CCDS4225.1			3943/7629									ovary(6)	6	c.(3943-3945)GGA>AGA			Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR23206,SMART_domains:SM00248,Superfamily_domains:SSF48403	ANKHD1-EIF4EBP3 protein				ENSP00000354085		22/34									COSM3409778,COSM3409777,COSM3409779	22/34	.		ENST00000360839	Transcript				cytoplasm|nucleus	RNA binding	ENSG00000131503	g.chr5:139889605G>A	24714			MODERATE		2.265	medium	getma.org/?cm=msa&ty=f&p=ANKH1_HUMAN&rb=1296&re=1387&var=G1315R	getma.org/pdb.php?prot=ANKH1_HUMAN&from=1296&to=1387&var=G1315R	getma.org/?cm=var&var=hg19,5,139889605,G,A&fts=all	G1315R	--	--	1																																		ANKHD1_uc003lfq.1_Missense_Mutation_p.G1334R|ANKHD1_uc003lfr.2_Missense_Mutation_p.G1315R|ANKHD1_uc003lft.1_Missense_Mutation_p.G526R|ANKHD1_uc003lfu.1_Missense_Mutation_p.G795R|ANKHD1_uc003lfv.1_Missense_Mutation_p.G392R|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.G54R|ANKHD1_uc003lfw.2_5'UTR	1,1,1			probably_damaging(0.988)	p.G1315R	NM_020690	NP_065741			1,1,1	ANKH1_HUMAN	ANKHD1	HGNC	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				22	4067	+			UPI0000074447	1315					SNV	ANKHD1,missense_variant,p.Gly1315Arg,ENST00000297183,NM_020690.5;ANKHD1-EIF4EBP3,missense_variant,p.Gly1315Arg,ENST00000532219,;ANKHD1,missense_variant,p.Gly1315Arg,ENST00000360839,NM_017747.2;ANKHD1,missense_variant,p.Gly1334Arg,ENST00000421134,;ANKHD1,missense_variant,p.Gly541Arg,ENST00000246149,;ANKHD1,missense_variant,p.Gly468Arg,ENST00000412116,;ANKHD1,upstream_gene_variant,,ENST00000431508,;ANKHD1,downstream_gene_variant,,ENST00000506930,;	uc003lfs.1	c.3943G>A	4097/8221	2	2			c.3943G>A						5	SNP	c.(3943-3945)GGA>AGA	24	24			ovary(6)	6	Broad	ANKHD1-EIF4EBP3 protein			139889605		0.393	ENSG00000131503	621	g.chr5:139889605G>A		cytoplasm|nucleus	RNA binding							76.925308	KEEP	21	9	-1	60	36	21	9	-1	82.315619	60	36	0.266055	1	0	0	0	0	1	0	0	0	--	--		0	A			ANKHD1_uc003lfq.1_Missense_Mutation_p.G1334R|ANKHD1_uc003lfr.2_Missense_Mutation_p.G1315R|ANKHD1_uc003lft.1_Missense_Mutation_p.G526R|ANKHD1_uc003lfu.1_Missense_Mutation_p.G795R|ANKHD1_uc003lfv.1_Missense_Mutation_p.G392R|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.G54R|ANKHD1_uc003lfw.2_5'UTR	162	GBM-19-2620-TP	p.G1315R	G	TGTTTACAGGGGAGCCCACAT	NM_020690	NP_065741	139889605	Q8IWZ2	Q8IWZ2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		22	4067	+	A	A			Missense_Mutation	1315						
ANKIB1	0	broad.mit.edu	GRCh37	7	91991520	91991520	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-41-3915-01	TCGA-41-3915-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265742.3:c.1419T>A	p.His473Gln	p.H473Q	ENST00000265742	NM_019004.1	473	caT/caA	0			1			A	H/Q	uc003ulw.2	protein_coding	YES	CCDS47639.1			1419/3270									lung(1)	1	c.(1417-1419)CAT>CAA			Pfam_domain:PF01485,hmmpanther:PTHR11685,hmmpanther:PTHR11685:SF95,SMART_domains:SM00647,Superfamily_domains:SSF57850	ankyrin repeat and IBR domain containing 1				ENSP00000265742		20-Oct									COSM3412472	20-Oct	.		ENST00000265742	Transcript					protein binding|zinc ion binding	ENSG00000001629	g.chr7:91991520T>A	22215			MODERATE		3.815	high	getma.org/?cm=msa&ty=f&p=AKIB1_HUMAN&rb=402&re=478&var=H473Q	NA	getma.org/?cm=var&var=hg19,7,91991520,T,A&fts=all	H473Q	--	--	1																																			1	1		probably_damaging(0.999)	p.H473Q	NM_019004	NP_061877		deleterious(0)	1	AKIB1_HUMAN	ANKIB1	HGNC	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Q4VBX8_HUMAN,C9JZ63_HUMAN		10	1795	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		UPI00001C1E7C	473			IBR-type; degenerate.		SNV	ANKIB1,missense_variant,p.His473Gln,ENST00000265742,NM_019004.1;ANKIB1,3_prime_UTR_variant,,ENST00000413588,;	uc003ulw.2	c.1419T>A	1795/6081	1	1			c.1419T>A						7	SNP	c.(1417-1419)CAT>CAA	64	64			lung(1)	1	Broad	ankyrin repeat and IBR domain containing 1			91991520		0.343	ENSG00000001629	622	g.chr7:91991520T>A			protein binding|zinc ion binding							2.632511	KEEP	2	0	-1	12	12	2	0	-1	6.603645	12	12	0.086957	1	0	0	0	0	1	0	0	0	--	--		0	A				256	GBM-41-3915-TP	p.H473Q	T	GTGAAGCACATGAGCCTTGTG	NM_019004	NP_061877	91991520	Q9P2G1	AKIB1_HUMAN	0	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		10	1795	+	A	A	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		Missense_Mutation	473			IBR-type; degenerate.			
ANKLE2	0	broad.mit.edu	GRCh37	12	133327271	133327272	+	frameshift_variant	Frame_Shift_Del	DEL	GA	GA	-			TCGA-14-4157-01	TCGA-14-4157-01	GA	GA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357997.5:c.804_805delTC	p.Pro269CysfsTer8	p.P269Cfs*8	ENST00000357997	NM_015114.1	268	tcTCct/tcct	0			1			-	SP/SX	uc001ukx.2	protein_coding	YES	CCDS41869.1			804-805/2817										0	c.(802-807)TCTCCTfs			Low_complexity_(Seg):seg,hmmpanther:PTHR20976,hmmpanther:PTHR20976:SF1	ankyrin repeat and LEM domain containing 2				ENSP00000350686		13-Mar										13-Mar	.		ENST00000357997	Transcript				cytoplasm|integral to membrane|nuclear envelope		ENSG00000176915	g.chr12:133327271_133327272delGA	29101			HIGH								--	--	1																																		ANKLE2_uc001uky.3_Frame_Shift_Del_p.S206fs		1			p.S268fs	NM_015114	NP_055929				ANKL2_HUMAN	ANKLE2	HGNC	Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	F5H417_HUMAN,F5H2H5_HUMAN,F5H1E7_HUMAN,F5H1D4_HUMAN		3	871_872	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	UPI00001981FB	268_269					deletion	ANKLE2,frameshift_variant,p.Pro207CysfsTer8,ENST00000539605,;ANKLE2,frameshift_variant,p.Pro269CysfsTer8,ENST00000357997,NM_015114.1;ANKLE2,frameshift_variant,p.Pro269CysfsTer8,ENST00000337516,;ANKLE2,frameshift_variant,p.Pro39CysfsTer8,ENST00000545623,;ANKLE2,upstream_gene_variant,,ENST00000535036,;ANKLE2,upstream_gene_variant,,ENST00000546061,;RP13-672B3.5,downstream_gene_variant,,ENST00000539323,;	uc001ukx.2	c.804_805delTC	894-895/4481	5	5			c.804_805delTC						12	DEL	c.(802-807)TCTCCTfs	NaN	0				0	Broad	ankyrin repeat and LEM domain containing 2			133327272		0.426	ENSG00000176915	625	g.chr12:133327271_133327272delGA		cytoplasm|integral to membrane|nuclear envelope																					0.39	1	1	0	1	0	0	0	0	0	--	--		0	-			ANKLE2_uc001uky.3_Frame_Shift_Del_p.S206fs	152	GBM-14-4157-TP	p.S268fs	GA	GTTTTCACAGGAGACAGTGGTA	NM_015114	NP_055929	133327271	Q86XL3	ANKL2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	3	871_872	-	-	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	Frame_Shift_Del	268_269						
ANKLE2	23141		GRCh37	12	133306704	133306704	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000357997.5:c.2044G>C	p.Glu682Gln	p.E682Q	ENST00000357997	NM_015114.1	682	Gag/Cag	0																																																																																																																																																																																																																																												
ANKRA2	0	broad.mit.edu	GRCh37	5	72857050	72857050	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296785.3:c.353C>T	p.Ser118Phe	p.S118F	ENST00000296785	NM_023039.4	118	tCt/tTt	0			1			A	S/F	uc003kcu.1	protein_coding	YES	CCDS4020.1			353/942										0	c.(352-354)TCT>TTT			hmmpanther:PTHR24124:SF3,hmmpanther:PTHR24124	ankyrin repeat, family A (RFXANK-like), 2				ENSP00000296785		9-Mar									rs553343150,COSM3410399	9-Mar	.		ENST00000296785	Transcript				cytoskeleton|cytosol|membrane	low-density lipoprotein particle binding	ENSG00000164331	g.chr5:72857050G>A	13208			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=ANRA2_HUMAN&rb=1&re=180&var=S118F	NA	getma.org/?cm=var&var=hg19,5,72857050,G,A&fts=all	S118F	--	--	1																																		ANKRA2_uc003kcv.2_Missense_Mutation_p.S118F	0,1	1		probably_damaging(0.991)	p.S118F	NM_023039	NP_075526		deleterious(0)	0,1	ANRA2_HUMAN	ANKRA2	HGNC	Q9H9E1	ANRA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)			3	999	-		Lung NSC(167;0.0378)|Ovarian(174;0.0908)	UPI0000125B54	118					SNV	ANKRA2,missense_variant,p.Ser118Phe,ENST00000296785,NM_023039.4;ANKRA2,intron_variant,,ENST00000504641,;UTP15,upstream_gene_variant,,ENST00000296792,NM_032175.2;UTP15,upstream_gene_variant,,ENST00000543251,NM_001284431.1;UTP15,upstream_gene_variant,,ENST00000509005,;UTP15,upstream_gene_variant,,ENST00000508491,NM_001284430.1;UTP15,upstream_gene_variant,,ENST00000513824,;UTP15,upstream_gene_variant,,ENST00000508686,;ANKRA2,non_coding_transcript_exon_variant,,ENST00000515804,;ANKRA2,non_coding_transcript_exon_variant,,ENST00000514916,;ANKRA2,non_coding_transcript_exon_variant,,ENST00000506130,;UTP15,upstream_gene_variant,,ENST00000510478,;ANKRA2,downstream_gene_variant,,ENST00000509433,;	uc003kcu.1	c.353C>T	1012/2063	1	1			c.353C>T						5	SNP	c.(352-354)TCT>TTT	51	51				0	Broad	ankyrin repeat, family A (RFXANK-like), 2			72857050		0.388	ENSG00000164331	628	g.chr5:72857050G>A		cytoskeleton|cytosol|membrane	low-density lipoprotein particle binding							94.894151	KEEP	20	17	-1	62	62	20	17	-1	104.378514	62	62	0.24026	1	0	0	0	0	1	0	0	0	--	--		0	A			ANKRA2_uc003kcv.2_Missense_Mutation_p.S118F	232	GBM-32-1982-TP	p.S118F	G	CTTTGTTGTAGAGGGGGTGTA	NM_023039	NP_075526	72857050	Q9H9E1	ANRA2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)	3	999	-	A	A		Lung NSC(167;0.0378)|Ovarian(174;0.0908)	Missense_Mutation	118						
ANKRD12	23253	broad.mit.edu	GRCh37	18	9280962	9280962	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0122-01	TCGA-06-0122-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262126.4:c.6027A>C	p.Gln2009His	p.Q2009H	ENST00000262126	NM_015208.4	2009	caA/caC	0			1			C	Q/H	uc002knv.2	protein_coding	YES	CCDS11843.1			6027/6189									ovary(2)|central_nervous_system(1)	3	c.(6025-6027)CAA>CAC			hmmpanther:PTHR24149:SF7,hmmpanther:PTHR24149	ankyrin repeat domain 12 isoform 1				ENSP00000262126		13/13									COSM2149216	13/13	.		ENST00000262126	Transcript				nucleus		ENSG00000101745	g.chr18:9280962A>C	29135			MODERATE		0.585	neutral	getma.org/?cm=msa&ty=f&p=ANR12_HUMAN&rb=1771&re=2061&var=Q2009H	NA	getma.org/?cm=var&var=hg19,18,9280962,A,C&fts=all	Q2009H	--	--	1																																		ANKRD12_uc002knw.2_Missense_Mutation_p.Q1986H|ANKRD12_uc002knx.2_Missense_Mutation_p.Q1986H	1	1		probably_damaging(0.999)	p.Q2009H	NM_015208	NP_056023		tolerated(0.08)	1	ANR12_HUMAN	ANKRD12	HGNC	Q6UB98	ANR12_HUMAN			J3QRX3_HUMAN		13	6284	+			UPI0000073327	2009					SNV	ANKRD12,missense_variant,p.Gln2009His,ENST00000262126,NM_015208.4;ANKRD12,missense_variant,p.Gln1986His,ENST00000383440,NM_001083625.2;ANKRD12,missense_variant,p.Gln1986His,ENST00000400020,NM_001204056.1;snoU13,downstream_gene_variant,,ENST00000459594,;	uc002knv.2	c.6027A>C	6267/11288	3	3			c.6027A>C						18	SNP	c.(6025-6027)CAA>CAC	63	63			ovary(2)|central_nervous_system(1)	3	Broad	ankyrin repeat domain 12 isoform 1			9280962		0.363	ENSG00000101745	632	g.chr18:9280962A>C		nucleus								99.301318	KEEP	18	18	-1	39	33	18	18	-1	101.341449	39	33	0.340659	1	0	0	0	0	1	0	0	0	--	--		0	C			ANKRD12_uc002knw.2_Missense_Mutation_p.Q1986H|ANKRD12_uc002knx.2_Missense_Mutation_p.Q1986H	10	GBM-06-0122-TP	p.Q2009H	A	TGAGGCAACAACATGAAGCTG	NM_015208	NP_056023	9280962	Q6UB98	ANR12_HUMAN	0			13	6284	+	C	C			Missense_Mutation	2009						
ANKRD12	0	broad.mit.edu	GRCh37	18	9258903	9258903	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01	TCGA-19-5950-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262126.4:c.5638C>T	p.Pro1880Ser	p.P1880S	ENST00000262126	NM_015208.4	1880	Ccc/Tcc	0			1			T	P/S	uc002knv.2	protein_coding	YES	CCDS11843.1			5638/6189									ovary(2)|central_nervous_system(1)	3	c.(5638-5640)CCC>TCC			hmmpanther:PTHR24149:SF7,hmmpanther:PTHR24149	ankyrin repeat domain 12 isoform 1				ENSP00000262126		13-Sep									COSM180321	13-Sep	.		ENST00000262126	Transcript				nucleus		ENSG00000101745	g.chr18:9258903C>T	29135			MODERATE		1.385	low	getma.org/?cm=msa&ty=f&p=ANR12_HUMAN&rb=1771&re=2061&var=P1880S	NA	getma.org/?cm=var&var=hg19,18,9258903,C,T&fts=all	P1880S	--	--	1																																		ANKRD12_uc002knw.2_Missense_Mutation_p.P1857S|ANKRD12_uc002knx.2_Missense_Mutation_p.P1857S|ANKRD12_uc010dkx.1_Missense_Mutation_p.P1587S	1	1		probably_damaging(0.985)	p.P1880S	NM_015208	NP_056023		deleterious(0)	1	ANR12_HUMAN	ANKRD12	HGNC	Q6UB98	ANR12_HUMAN			J3QRX3_HUMAN		9	5895	+			UPI0000073327	1880					SNV	ANKRD12,missense_variant,p.Pro1880Ser,ENST00000262126,NM_015208.4;ANKRD12,missense_variant,p.Pro1857Ser,ENST00000383440,NM_001083625.2;ANKRD12,missense_variant,p.Pro1857Ser,ENST00000400020,NM_001204056.1;ANKRD12,downstream_gene_variant,,ENST00000546007,;RP11-888D10.4,upstream_gene_variant,,ENST00000609701,;RP11-21J18.1,downstream_gene_variant,,ENST00000578850,;ANKRD12,downstream_gene_variant,,ENST00000359158,;	uc002knv.2	c.5638C>T	5878/11288	1	1			c.5638C>T						18	SNP	c.(5638-5640)CCC>TCC	12	12			ovary(2)|central_nervous_system(1)	3	Broad	ankyrin repeat domain 12 isoform 1			9258903		0.303	ENSG00000101745	632	g.chr18:9258903C>T		nucleus								95.519552	KEEP	18	18	-1	39	61	18	18	-1	101.316723	39	61	0.270492	1	0	0	0	0	1	0	0	0	--	--		0	T			ANKRD12_uc002knw.2_Missense_Mutation_p.P1857S|ANKRD12_uc002knx.2_Missense_Mutation_p.P1857S|ANKRD12_uc010dkx.1_Missense_Mutation_p.P1587S	170	GBM-19-5950-TP	p.P1880S	C	GGATGGAAACCCCTTAAGCAA	NM_015208	NP_056023	9258903	Q6UB98	ANR12_HUMAN	0			9	5895	+	T	T			Missense_Mutation	1880						
ANKRD13B	0	broad.mit.edu	GRCh37	17	27939701	27939701	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6701-01	TCGA-06-6701-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394859.3:c.1443G>A	p.Ala481=	p.A481=	ENST00000394859	NM_152345.4	481	gcG/gcA	0			1			A	A	uc002hei.2	protein_coding	YES	CCDS11251.1			1443/1881										0	c.(1441-1443)GCG>GCA			hmmpanther:PTHR12447:SF3,hmmpanther:PTHR12447,Pfam_domain:PF11904	ankyrin repeat domain 13B				ENSP00000378328		13/15									COSM3402712	13/15	.		ENST00000394859	Transcript						ENSG00000198720	g.chr17:27939701G>A	26363			LOW								--	--	1																																		ANKRD13B_uc002heh.2_Silent_p.A349A|ANKRD13B_uc002hej.2_RNA|ANKRD13B_uc002hek.2_5'UTR	1	1			p.A481A	NM_152345	NP_689558			1	AN13B_HUMAN	ANKRD13B	HGNC	Q86YJ7	AN13B_HUMAN			K7ENT0_HUMAN		13	1556	+			UPI0000246D82	481					SNV	ANKRD13B,synonymous_variant,p.=,ENST00000394859,NM_152345.4;ANKRD13B,synonymous_variant,p.=,ENST00000579719,;CORO6,downstream_gene_variant,,ENST00000345068,;CORO6,downstream_gene_variant,,ENST00000388767,NM_032854.3;CORO6,downstream_gene_variant,,ENST00000445145,;CORO6,downstream_gene_variant,,ENST00000580212,;CORO6,downstream_gene_variant,,ENST00000456796,;CORO6,downstream_gene_variant,,ENST00000584969,;ANKRD13B,downstream_gene_variant,,ENST00000583728,;RP11-68I3.2,intron_variant,,ENST00000581474,;CORO6,downstream_gene_variant,,ENST00000577909,;ANKRD13B,synonymous_variant,p.=,ENST00000488766,;ANKRD13B,non_coding_transcript_exon_variant,,ENST00000487527,;ANKRD13B,non_coding_transcript_exon_variant,,ENST00000493506,;CORO6,downstream_gene_variant,,ENST00000459686,;CORO6,downstream_gene_variant,,ENST00000467534,;CORO6,downstream_gene_variant,,ENST00000469090,;CORO6,downstream_gene_variant,,ENST00000579388,;CORO6,downstream_gene_variant,,ENST00000480954,;ANKRD13B,downstream_gene_variant,,ENST00000578943,;ANKRD13B,downstream_gene_variant,,ENST00000578811,;	uc002hei.2	c.1443G>A	1597/3214	2	2			c.1443G>A						17	SNP	c.(1441-1443)GCG>GCA	47	47				0	Broad	ankyrin repeat domain 13B			27939701		0.751	ENSG00000198720	634	g.chr17:27939701G>A										16.815995	KEEP	4	6	-1	6	10	4	6	-1	17.601856	6	10	0.304348	1	0	0	0	0	0	0	1	0	--	--		0	A			ANKRD13B_uc002heh.2_Silent_p.A349A|ANKRD13B_uc002hej.2_RNA|ANKRD13B_uc002hek.2_5'UTR	115	GBM-06-6701-TP	p.A481A	G	TCTCCCCAGCGTTGTTCGAGG	NM_152345	NP_689558	27939701	Q86YJ7	AN13B_HUMAN	0			13	1556	+	A	A			Silent	481						
ANKRD16	0	broad.mit.edu	GRCh37	10	5929963	5929963	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4208-01	TCGA-32-4208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380092.4:c.382G>A	p.Ala128Thr	p.A128T	ENST00000380092	NM_001009941.2	128	Gcc/Acc	0		T:0	1	T:0		T	A/T	uc010qat.1	protein_coding		CCDS31136.1			382/1086										0	c.(382-384)GCC>ACC			PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24181,hmmpanther:PTHR24181:SF20,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	ankyrin repeat domain 16 isoform a		T:0.002		ENSP00000369434	T:0	7-Feb	0.000124			0.00173					rs537519126,COSM3397186	7-Feb	common_variant		ENST00000380092	Transcript		T:0.0004				ENSG00000134461	g.chr10:5929963C>T	23471			MODERATE		3.11	medium	getma.org/?cm=msa&ty=f&p=ANR16_HUMAN&rb=41&re=134&var=A128T	getma.org/pdb.php?prot=ANR16_HUMAN&from=41&to=134&var=A128T	getma.org/?cm=var&var=hg19,10,5929963,C,T&fts=all	A128T	--	--	1																																		ANKRD16_uc009xie.2_Missense_Mutation_p.A128T|ANKRD16_uc009xif.2_Missense_Mutation_p.A128T|ANKRD16_uc001iiq.2_Missense_Mutation_p.A128T|FBXO18_uc001iir.2_5'Flank|FBXO18_uc001iis.2_5'Flank|FBXO18_uc009xig.2_5'Flank	0,1			probably_damaging(0.999)	p.A128T	NM_019046	NP_061919	T:0	deleterious(0.01)	0,1	ANR16_HUMAN	ANKRD16	HGNC	Q6P6B7	ANR16_HUMAN					2	925	-			UPI00001D809F	128			ANK 3.		SNV	ANKRD16,missense_variant,p.Ala128Thr,ENST00000380094,NM_019046.2;ANKRD16,missense_variant,p.Ala128Thr,ENST00000380092,NM_001009941.2;ANKRD16,missense_variant,p.Ala128Thr,ENST00000191063,NM_001009943.2;FBXO18,upstream_gene_variant,,ENST00000397269,NM_001258452.1;FBXO18,upstream_gene_variant,,ENST00000362091,NM_001258453.1,NM_178150.2;FBXO18,upstream_gene_variant,,ENST00000470089,;FBXO18,upstream_gene_variant,,ENST00000462507,;ANKRD16,upstream_gene_variant,,ENST00000492368,;	uc010qat.1	c.382G>A	899/1646	2	2			c.382G>A						10	SNP	c.(382-384)GCC>ACC	21	21				0	Broad	ankyrin repeat domain 16 isoform a			5929963		0.552	ENSG00000134461	637	g.chr10:5929963C>T										226.489693	KEEP	52	52	-1	81	81	52	52	-1	228.786332	81	81	0.388626	1	0	0	0	0	1	0	0	0	--	--		0	T			ANKRD16_uc009xie.2_Missense_Mutation_p.A128T|ANKRD16_uc009xif.2_Missense_Mutation_p.A128T|ANKRD16_uc001iiq.2_Missense_Mutation_p.A128T|FBXO18_uc001iir.2_5'Flank|FBXO18_uc001iis.2_5'Flank|FBXO18_uc009xig.2_5'Flank	243	GBM-32-4208-TP	p.A128T	C	AGTGGATTGGCGCCATGTTCC	NM_019046	NP_061919	5929963	Q6P6B7	ANR16_HUMAN	0			2	925	-	T	T			Missense_Mutation	128			ANK 3.			
ANKRD17	26057	broad.mit.edu	GRCh37	4	73962983	73962983	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-06-0881-01	TCGA-06-0881-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358602.4:c.5028A>C	p.Ser1676=	p.S1676=	ENST00000358602	NM_032217.3	1676	tcA/tcC	0			1			G	S	uc003hgp.2	protein_coding	YES	CCDS34004.1			5028/7812									ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	c.(5026-5028)TCA>TCC			hmmpanther:PTHR23206:SF1,hmmpanther:PTHR23206	ankyrin repeat domain protein 17 isoform a				ENSP00000351416		27/34									COSM3409467	27/34	.		ENST00000358602	Transcript			interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	ENSG00000132466	g.chr4:73962983T>G	23575			LOW								--	--	1																																		ANKRD17_uc003hgo.2_Silent_p.S1563S|ANKRD17_uc003hgq.2_Silent_p.S1425S|ANKRD17_uc003hgr.2_Silent_p.S1675S	1	1			p.S1676S	NM_032217	NP_115593			1	ANR17_HUMAN	ANKRD17	HGNC	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)				27	5145	-	Breast(15;0.000295)		UPI00002263B0	1676			Ser-rich.		SNV	ANKRD17,synonymous_variant,p.=,ENST00000358602,NM_032217.3;ANKRD17,synonymous_variant,p.=,ENST00000558247,;ANKRD17,synonymous_variant,p.=,ENST00000509867,NM_001286771.1;ANKRD17,synonymous_variant,p.=,ENST00000330838,NM_198889.1;ANKRD17,downstream_gene_variant,,ENST00000560507,;ANKRD17,downstream_gene_variant,,ENST00000513908,;HMGA1P2,upstream_gene_variant,,ENST00000430198,;	uc003hgp.2	c.5028A>C	5145/10784	3	3			c.5028A>C						4	SNP	c.(5026-5028)TCA>TCC	2	2			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Broad	ankyrin repeat domain protein 17 isoform a			73962983		0.333	ENSG00000132466	638	g.chr4:73962983T>G	interspecies interaction between organisms	cytoplasm|nucleus	RNA binding							-19.654072	KEEP	5	3	-1	97	80	5	3	-1	19.18955	97	80	0.045455	1	0	0	0	0	0	0	1	0	--	--		0	G			ANKRD17_uc003hgo.2_Silent_p.S1563S|ANKRD17_uc003hgq.2_Silent_p.S1425S|ANKRD17_uc003hgr.2_Silent_p.S1675S	76	GBM-06-0881-TP	p.S1676S	T	TGATAGTTTCTGACAATCTTT	NM_032217	NP_115593	73962983	O75179	ANR17_HUMAN	0	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		27	5145	-	G	G	Breast(15;0.000295)		Silent	1676			Ser-rich.			
ANKRD17	0	broad.mit.edu	GRCh37	4	73984505	73984505	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01	TCGA-14-1450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358602.4:c.4088G>A	p.Gly1363Asp	p.G1363D	ENST00000358602	NM_032217.3	1363	gGt/gAt	0			1			T	G/D	uc003hgp.2	protein_coding	YES	CCDS34004.1			4088/7812									ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	c.(4087-4089)GGT>GAT			PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR23206:SF1,hmmpanther:PTHR23206,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	ankyrin repeat domain protein 17 isoform a				ENSP00000351416		22/34									COSM3409468	22/34	.		ENST00000358602	Transcript			interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	ENSG00000132466	g.chr4:73984505C>T	23575			MODERATE		1.795	low	getma.org/?cm=msa&ty=f&p=ANR17_HUMAN&rb=1324&re=1415&var=G1363D	getma.org/pdb.php?prot=ANR17_HUMAN&from=1324&to=1415&var=G1363D	getma.org/?cm=var&var=hg19,4,73984505,C,T&fts=all	G1363D	--	--	1																																		ANKRD17_uc003hgo.2_Missense_Mutation_p.G1250D|ANKRD17_uc003hgq.2_Missense_Mutation_p.G1112D|ANKRD17_uc003hgr.2_Missense_Mutation_p.G1362D|ANKRD17_uc011cbd.1_Missense_Mutation_p.G928D	1	1		possibly_damaging(0.823)	p.G1363D	NM_032217	NP_115593			1	ANR17_HUMAN	ANKRD17	HGNC	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)				22	4205	-	Breast(15;0.000295)		UPI00002263B0	1363			ANK 24.		SNV	ANKRD17,missense_variant,p.Gly1363Asp,ENST00000358602,NM_032217.3;ANKRD17,missense_variant,p.Gly1247Asp,ENST00000558247,;ANKRD17,missense_variant,p.Gly1250Asp,ENST00000509867,NM_001286771.1;ANKRD17,missense_variant,p.Gly1112Asp,ENST00000330838,NM_198889.1;ANKRD17,missense_variant,p.Gly730Asp,ENST00000561029,;ANKRD17,non_coding_transcript_exon_variant,,ENST00000514252,;ANKRD17,3_prime_UTR_variant,,ENST00000560372,;	uc003hgp.2	c.4088G>A	4205/10784	2	2			c.4088G>A						4	SNP	c.(4087-4089)GGT>GAT	37	37			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Broad	ankyrin repeat domain protein 17 isoform a			73984505		0.443	ENSG00000132466	638	g.chr4:73984505C>T	interspecies interaction between organisms	cytoplasm|nucleus	RNA binding							88.076793	KEEP	32	14	-1	75	74	32	14	-1	99.948119	75	74	0.230337	1	0	0	0	0	1	0	0	0	--	--		0	T			ANKRD17_uc003hgo.2_Missense_Mutation_p.G1250D|ANKRD17_uc003hgq.2_Missense_Mutation_p.G1112D|ANKRD17_uc003hgr.2_Missense_Mutation_p.G1362D|ANKRD17_uc011cbd.1_Missense_Mutation_p.G928D	145	GBM-14-1450-TP	p.G1363D	C	GAGGTGTCCACCATTTGCTGC	NM_032217	NP_115593	73984505	O75179	ANR17_HUMAN	0	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		22	4205	-	T	T	Breast(15;0.000295)		Missense_Mutation	1363			ANK 24.			
ANKRD17	0	broad.mit.edu	GRCh37	4	73959897	73959897	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-32-1979-01	TCGA-32-1979-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358602.4:c.5226A>G	p.Gly1742=	p.G1742=	ENST00000358602	NM_032217.3	1742	ggA/ggG	0			1			C	G	uc003hgp.2	protein_coding	YES	CCDS34004.1			5226/7812									ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	c.(5224-5226)GGA>GGG			PROSITE_profiles:PS50084,hmmpanther:PTHR23206:SF1,hmmpanther:PTHR23206,Gene3D:3.30.1370.10,Pfam_domain:PF00013,SMART_domains:SM00322,Superfamily_domains:SSF54791	ankyrin repeat domain protein 17 isoform a				ENSP00000351416		28/34									COSM3409466	28/34	.		ENST00000358602	Transcript			interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	ENSG00000132466	g.chr4:73959897T>C	23575			LOW								--	--	1																																		ANKRD17_uc003hgo.2_Silent_p.G1629G|ANKRD17_uc003hgq.2_Silent_p.G1491G|ANKRD17_uc003hgr.2_Silent_p.G1741G	1	1			p.G1742G	NM_032217	NP_115593			1	ANR17_HUMAN	ANKRD17	HGNC	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)				28	5343	-	Breast(15;0.000295)		UPI00002263B0	1742			KH.		SNV	ANKRD17,synonymous_variant,p.=,ENST00000358602,NM_032217.3;ANKRD17,synonymous_variant,p.=,ENST00000558247,;ANKRD17,synonymous_variant,p.=,ENST00000509867,NM_001286771.1;ANKRD17,synonymous_variant,p.=,ENST00000330838,NM_198889.1;ANKRD17,downstream_gene_variant,,ENST00000513908,;HMGA1P2,upstream_gene_variant,,ENST00000430198,;	uc003hgp.2	c.5226A>G	5343/10784	3	3			c.5226A>G						4	SNP	c.(5224-5226)GGA>GGG	63	63			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Broad	ankyrin repeat domain protein 17 isoform a			73959897		0.333	ENSG00000132466	638	g.chr4:73959897T>C	interspecies interaction between organisms	cytoplasm|nucleus	RNA binding							87.893443	KEEP	11	21	-1	31	37	11	21	-1	90.601581	31	37	0.314607	1	0	0	0	0	0	0	1	0	--	--		0	C			ANKRD17_uc003hgo.2_Silent_p.G1629G|ANKRD17_uc003hgq.2_Silent_p.G1491G|ANKRD17_uc003hgr.2_Silent_p.G1741G	230	GBM-32-1979-TP	p.G1742G	T	AGCCTCCTCTTCCAATCACTC	NM_032217	NP_115593	73959897	O75179	ANR17_HUMAN	0	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		28	5343	-	C	C	Breast(15;0.000295)		Silent	1742			KH.			
ANKRD17	0	broad.mit.edu	GRCh37	4	73951059	73951059	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-41-4097-01	TCGA-41-4097-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358602.4:c.7066delG	p.Ala2356HisfsTer23	p.A2356Hfs*23	ENST00000358602	NM_032217.3	2356	Gca/ca	0			1			-	A/X	uc003hgp.2	protein_coding	YES	CCDS34004.1			7066/7812									ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	c.(7066-7068)GCAfs			Low_complexity_(Seg):seg,hmmpanther:PTHR23206:SF1,hmmpanther:PTHR23206	ankyrin repeat domain protein 17 isoform a				ENSP00000351416		30/34										30/34	.		ENST00000358602	Transcript			interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	ENSG00000132466	g.chr4:73951059delC	23575			HIGH								--	--	1																																		ANKRD17_uc003hgo.2_Frame_Shift_Del_p.A2243fs|ANKRD17_uc003hgq.2_Frame_Shift_Del_p.A2105fs|ANKRD17_uc003hgr.2_Frame_Shift_Del_p.A2355fs		1			p.A2356fs	NM_032217	NP_115593				ANR17_HUMAN	ANKRD17	HGNC	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)				30	7183	-	Breast(15;0.000295)		UPI00002263B0	2356					deletion	ANKRD17,frameshift_variant,p.Ala2356HisfsTer23,ENST00000358602,NM_032217.3;ANKRD17,frameshift_variant,p.Ala2240HisfsTer23,ENST00000558247,;ANKRD17,frameshift_variant,p.Ala2243HisfsTer23,ENST00000509867,NM_001286771.1;ANKRD17,frameshift_variant,p.Ala2105HisfsTer23,ENST00000330838,NM_198889.1;ANKRD17,upstream_gene_variant,,ENST00000510127,;	uc003hgp.2	c.7066delG	7183/10784	5	5			c.7066delG						4	DEL	c.(7066-7068)GCAfs	58	58			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Broad	ankyrin repeat domain protein 17 isoform a			73951059		0.463	ENSG00000132466	638	g.chr4:73951059delC	interspecies interaction between organisms	cytoplasm|nucleus	RNA binding																				0.2	1	1	0	1	0	0	0	0	0	--	--		0	-			ANKRD17_uc003hgo.2_Frame_Shift_Del_p.A2243fs|ANKRD17_uc003hgq.2_Frame_Shift_Del_p.A2105fs|ANKRD17_uc003hgr.2_Frame_Shift_Del_p.A2355fs	257	GBM-41-4097-TP	p.A2356fs	C	CCAAGGGGTGCCCCAGGTCCG	NM_032217	NP_115593	73951059	O75179	ANR17_HUMAN	0	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		30	7183	-	-	-	Breast(15;0.000295)		Frame_Shift_Del	2356						
ANKRD17	26057		GRCh37	4	74005420	74005420	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000358602.4:c.2913A>G	p.Pro971=	p.P971=	ENST00000358602	NM_032217.3	971	ccA/ccG	0																																																																																																																																																																																																																																												
ANKRD24	0	broad.mit.edu	GRCh37	19	4207777	4207777	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A			TCGA-32-2634-01	TCGA-32-2634-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318934.4:c.645-1G>A		p.X215_splice	ENST00000318934				0			1			A		uc010dtt.1	protein_coding		CCDS45925.1			645/3441										0	c.e10-1				ankyrin repeat domain 24				ENSP00000321731											COSM3404272,COSM3404271,COSM3404270		.		ENST00000318934	Transcript						ENSG00000089847	g.chr19:4207777G>A	29424			HIGH	20-Aug							--	--	1																																OREG0025162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ANKRD24_uc002lzs.2_Splice_Site_p.R186_splice|ANKRD24_uc002lzt.2_Splice_Site_p.R187_splice	1,1,1				p.R215_splice	NM_133475	NP_597732			1,1,1	ANR24_HUMAN	ANKRD24	HGNC	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)			10	921	+			UPI000041F5A9						SNV	ANKRD24,splice_acceptor_variant,,ENST00000600132,NM_133475.1;ANKRD24,splice_acceptor_variant,,ENST00000318934,;ANKRD24,splice_acceptor_variant,,ENST00000262970,;ANKRD24,splice_acceptor_variant,,ENST00000597689,;RN7SL84P,upstream_gene_variant,,ENST00000578969,;ANKRD24,upstream_gene_variant,,ENST00000595096,;ANKRD24,splice_acceptor_variant,,ENST00000595928,;	uc010dtt.1	c.645_splice	-/3906	5	1			c.645_splice						19	SNP	c.e10-1	60	60				0	Broad	ankyrin repeat domain 24			4207777		0.682	ENSG00000089847	644	g.chr19:4207777G>A										38.832546	KEEP	7	5	-1	3	0	7	5	-1	39.887575	3	0	0.785714	1	0	0	0	0	0	0	0	1	--	--		0	A	OREG0025162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ANKRD24_uc002lzs.2_Splice_Site_p.R186_splice|ANKRD24_uc002lzt.2_Splice_Site_p.R187_splice	241	GBM-32-2634-TP	p.R215_splice	G	TCCCCTGGTAGGACGGCCCTG	NM_133475	NP_597732	4207777	Q8TF21	ANR24_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	10	921	+	A	A			Splice_Site							
ANKRD26	22852	broad.mit.edu	GRCh37	10	27350076	27350076	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01	TCGA-02-2483-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376087.4:c.1459A>G	p.Met487Val	p.M487V	ENST00000376087	NM_014915.2	487	Atg/Gtg	0			1			C	M/V	uc001ith.2	protein_coding	YES	CCDS41499.1			1459/5133									large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4	c.(1459-1461)ATG>GTG			hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF17	ankyrin repeat domain 26				ENSP00000365255		13/34									COSM2149138	13/34	.		ENST00000376087	Transcript	1			centrosome		ENSG00000107890	g.chr10:27350076T>C	29186			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=ANR26_HUMAN&rb=243&re=1468&var=M487V	NA	getma.org/?cm=var&var=hg19,10,27350076,T,C&fts=all	M487V	--	--	1																																		ANKRD26_uc001itg.2_Intron|ANKRD26_uc009xku.1_Missense_Mutation_p.M487V	1	1		benign(0.007)	p.M487V	NM_014915	NP_055730		tolerated(0.32)	1	ANR26_HUMAN	ANKRD26	HGNC	Q9UPS8	ANR26_HUMAN					13	1631	-			UPI000006FC41	487					SNV	ANKRD26,missense_variant,p.Met487Val,ENST00000376087,NM_014915.2,NM_001256053.1;ANKRD26,intron_variant,,ENST00000436985,;	uc001ith.2	c.1459A>G	1625/6591	3	3			c.1459A>G						10	SNP	c.(1459-1461)ATG>GTG	63	63			large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4	Broad	ankyrin repeat domain 26			27350076		0.348	ENSG00000107890	645	g.chr10:27350076T>C		centrosome								342.879581	KEEP	59	66	-1	95	106	59	66	-1	346.133713	95	106	0.384058	1	0	0	0	0	1	0	0	0	--	--		0	C			ANKRD26_uc001itg.2_Intron|ANKRD26_uc009xku.1_Missense_Mutation_p.M487V	6	GBM-02-2483-TP	p.M487V	T	TCCATACCCATGTGGGCTACT	NM_014915	NP_055730	27350076	Q9UPS8	ANR26_HUMAN	0			13	1631	-	C	C			Missense_Mutation	487						
ANKRD26	0	broad.mit.edu	GRCh37	10	27324683	27324683	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C			TCGA-19-2631-01	TCGA-19-2631-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376087.4:c.2698-2A>G		p.X900_splice	ENST00000376087	NM_014915.2			0			1			C		uc001ith.2	protein_coding	YES	CCDS41499.1			2698/5133									large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4	c.e24-1				ankyrin repeat domain 26				ENSP00000365255			8.29E-06		0.000108						rs757747401,COSM3397073,COSM3397074		.		ENST00000376087	Transcript	1			centrosome		ENSG00000107890	g.chr10:27324683T>C	29186			HIGH	23/33							--	--	1																																		ANKRD26_uc001itg.2_Splice_Site_p.N586_splice|ANKRD26_uc009xku.1_Splice_Site_p.N900_splice	0,1,1	1			p.N899_splice	NM_014915	NP_055730			0,1,1	ANR26_HUMAN	ANKRD26	HGNC	Q9UPS8	ANR26_HUMAN					24	2867	-			UPI000006FC41						SNV	ANKRD26,splice_acceptor_variant,,ENST00000376087,NM_014915.2,NM_001256053.1;ANKRD26,splice_acceptor_variant,,ENST00000436985,;ANKRD26,splice_acceptor_variant,,ENST00000376070,;ANKRD26,downstream_gene_variant,,ENST00000490015,;	uc001ith.2	c.2695_splice	-/6591	5	3			c.2695_splice						10	SNP	c.e24-1	56	56			large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4	Broad	ankyrin repeat domain 26			27324683		0.313	ENSG00000107890	645	g.chr10:27324683T>C		centrosome								44.731391	KEEP	7	8	-1	3	3	7	8	-1	45.056154	3	3	0.647059	1	0	0	0	0	0	0	0	1	--	--		0	C			ANKRD26_uc001itg.2_Splice_Site_p.N586_splice|ANKRD26_uc009xku.1_Splice_Site_p.N900_splice	167	GBM-19-2631-TP	p.N899_splice	T	ATGAGAATTCTAAGTAAAACA	NM_014915	NP_055730	27324683	Q9UPS8	ANR26_HUMAN	0			24	2867	-	C	C			Splice_Site							
ANKRD28	0	broad.mit.edu	GRCh37	3	15778600	15778600	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-4719-01	TCGA-32-4719-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399451.2:c.402C>T	p.Asn134=	p.N134=	ENST00000399451	NM_015199.3	134	aaC/aaT	0			1			A	N	uc003caj.1	protein_coding	YES	CCDS46769.1			402/3162									breast(1)	1	c.(400-402)AAC>AAT			PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24158:SF22,hmmpanther:PTHR24158,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	ankyrin repeat domain 28				ENSP00000382379		28-May	8.27E-06					1.50E-05			rs758870866,COSM1327766	28-May	.		ENST00000399451	Transcript				nucleoplasm	protein binding	ENSG00000206560	g.chr3:15778600G>A	29024			LOW								--	--	1																																		ANKRD28_uc003cai.1_Translation_Start_Site|ANKRD28_uc011avz.1_Translation_Start_Site|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Silent_p.N164N|ANKRD28_uc003cam.2_Silent_p.N167N	0,1	1			p.N134N	NM_015199	NP_056014			0,1	ANR28_HUMAN	ANKRD28	HGNC	O15084	ANR28_HUMAN					5	545	-			UPI00004120FF	134			ANK 3.		SNV	ANKRD28,synonymous_variant,p.=,ENST00000399451,NM_015199.3,NM_001195098.1,NM_001195099.1;ANKRD28,synonymous_variant,p.=,ENST00000383777,;RN7SL4P,upstream_gene_variant,,ENST00000584058,;ANKRD28,non_coding_transcript_exon_variant,,ENST00000497037,;ANKRD28,non_coding_transcript_exon_variant,,ENST00000476472,;ANKRD28,non_coding_transcript_exon_variant,,ENST00000460278,;RP11-44D5.1,downstream_gene_variant,,ENST00000605733,;ANKRD28,synonymous_variant,p.=,ENST00000412318,;ANKRD28,synonymous_variant,p.=,ENST00000451422,;ANKRD28,3_prime_UTR_variant,,ENST00000439830,;ANKRD28,non_coding_transcript_exon_variant,,ENST00000498524,;RP11-44D5.1,downstream_gene_variant,,ENST00000604625,;	uc003caj.1	c.402C>T	770/6564	2	2			c.402C>T						3	SNP	c.(400-402)AAC>AAT	35	35			breast(1)	1	Broad	ankyrin repeat domain 28			15778600		0.428	ENSG00000206560	647	g.chr3:15778600G>A		nucleoplasm	protein binding							220.931221	KEEP	36	56	-1	81	81	36	56	-1	225.402389	81	81	0.348416	1	0	0	0	0	0	0	1	0	--	--		0	A			ANKRD28_uc003cai.1_Translation_Start_Site|ANKRD28_uc011avz.1_Translation_Start_Site|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Silent_p.N164N|ANKRD28_uc003cam.2_Silent_p.N167N	248	GBM-32-4719-TP	p.N134N	G	GATCAGATACGTTTACATTAC	NM_015199	NP_056014	15778600	O15084	ANR28_HUMAN	0			5	545	-	A	A			Silent	134			ANK 3.			
ANKRD30A	91074	broad.mit.edu	GRCh37	10	37506710	37506710	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2559-01	TCGA-06-2559-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361713.1:c.3003G>A	p.Glu1001=	p.E1001=	ENST00000361713	NM_052997.2	1001	gaG/gaA	0			1			A	E	uc001iza.1	protein_coding	YES	CCDS7193.1			3003/4026									ovary(7)|breast(1)|skin(1)	9	c.(3001-3003)GAG>GAA			Coiled-coils_(Ncoils):Coil	ankyrin repeat domain 30A				ENSP00000354432		33/36									COSM2152660,COSM2152661	33/36	.		ENST00000361713	Transcript				nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000148513	g.chr10:37506710G>A	17234			LOW								--	--	1																																			1,1	1			p.E1001E	NM_052997	NP_443723			1,1	AN30A_HUMAN	ANKRD30A	HGNC	Q9BXX3	AN30A_HUMAN			R4GNA2_HUMAN		33	3102	+			UPI0000458879	1057			Potential.		SNV	ANKRD30A,synonymous_variant,p.=,ENST00000374660,;ANKRD30A,synonymous_variant,p.=,ENST00000602533,;ANKRD30A,synonymous_variant,p.=,ENST00000361713,NM_052997.2;	uc001iza.1	c.3003G>A	3102/4405	1	1			c.3003G>A						10	SNP	c.(3001-3003)GAG>GAA	61	61			ovary(7)|breast(1)|skin(1)	9	Broad	ankyrin repeat domain 30A			37506710		0.328	ENSG00000148513	649	g.chr10:37506710G>A		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity							83.642875	KEEP	10	18	-1	23	10	10	18	-1	83.778142	23	10	0.448276	1	0	0	0	0	0	0	1	0	--	--		0	A				83	GBM-06-2559-TP	p.E1001E	G	GAATCGAAGAGCAGCATAGGA	NM_052997	NP_443723	37506710	Q9BXX3	AN30A_HUMAN	0			33	3102	+	A	A			Silent	1057			Potential.			
ANKRD30A	0	broad.mit.edu	GRCh37	10	37486209	37486209	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-2495-01	TCGA-32-2495-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361713.1:c.2447A>G	p.Glu816Gly	p.E816G	ENST00000361713	NM_052997.2	816	gAg/gGg	0			1			G	E/G	uc001iza.1	protein_coding	YES	CCDS7193.1			2447/4026									ovary(7)|breast(1)|skin(1)	9	c.(2446-2448)GAG>GGG			hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF11	ankyrin repeat domain 30A				ENSP00000354432		28/36									COSM3397107,COSM3397108	28/36	.		ENST00000361713	Transcript				nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000148513	g.chr10:37486209A>G	17234			MODERATE		1.3	low	getma.org/?cm=msa&ty=f&p=AN30A_HUMAN&rb=281&re=1396&var=E872G	NA	getma.org/?cm=var&var=hg19,10,37486209,A,G&fts=all	E872G	--	--	1																																			1,1	1		benign(0.048)	p.E816G	NM_052997	NP_443723		deleterious(0.04)	1,1	AN30A_HUMAN	ANKRD30A	HGNC	Q9BXX3	AN30A_HUMAN			R4GNA2_HUMAN		28	2546	+			UPI0000458879	872					SNV	ANKRD30A,missense_variant,p.Glu935Gly,ENST00000374660,;ANKRD30A,missense_variant,p.Glu816Gly,ENST00000602533,;ANKRD30A,missense_variant,p.Glu816Gly,ENST00000361713,NM_052997.2;ANKRD30A,downstream_gene_variant,,ENST00000475522,;	uc001iza.1	c.2447A>G	2546/4405	4	4			c.2447A>G						10	SNP	c.(2446-2448)GAG>GGG	17	17			ovary(7)|breast(1)|skin(1)	9	Broad	ankyrin repeat domain 30A			37486209		0.338	ENSG00000148513	649	g.chr10:37486209A>G		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity							-21.675357	KEEP	0	4	-1	59	73	0	4	-1	7.185605	59	73	0.025862	1	0	0	0	0	1	0	0	0	--	--		0	G				237	GBM-32-2495-TP	p.E816G	A	TGCTTTTTAGAGCCTCCCGAG	NM_052997	NP_443723	37486209	Q9BXX3	AN30A_HUMAN	0			28	2546	+	G	G			Missense_Mutation	872						
ANKRD30B	374860		GRCh37	18	14803789	14803789	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000358984.4:c.2250A>G	p.Gln750=	p.Q750=	ENST00000358984	NM_001145029.1	750	caA/caG	0																																																																																																																																																																																																																																												
ANKRD30B	374860		GRCh37	18	14779969	14779969	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000358984.4:c.1431C>G	p.Phe477Leu	p.F477L	ENST00000358984	NM_001145029.1	477	ttC/ttG	0																																																																																																																																																																																																																																												
ANKRD33	0	broad.mit.edu	GRCh37	12	52284586	52284586	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5947-01	TCGA-19-5947-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340970.4:c.481C>T	p.Arg161Trp	p.R161W	ENST00000340970		161	Cgg/Tgg	0	T:0		1			T	R/W	uc001rzf.3	protein_coding		CCDS44892.1			481/819										0	c.(481-483)CGG>TGG			hmmpanther:PTHR24137,hmmpanther:PTHR24137:SF1	ankyrin repeat domain 33 isoform 1			T:0.0005	ENSP00000344690		6-May	0.000593	0.000222		0.000127	0.00479	0.000469	0.00123	0.000443	rs200291062,COSM3398801,COSM3398802	6-May	common_variant		ENST00000340970	Transcript						ENSG00000167612	g.chr12:52284586C>T	13788			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=ANR33_HUMAN&rb=107&re=272&var=R161W	NA	getma.org/?cm=var&var=hg19,12,52284586,C,T&fts=all	R161W	--	--	1																																		ANKRD33_uc001rzh.3_3'UTR|ANKRD33_uc001rzd.2_Missense_Mutation_p.R286W|ANKRD33_uc001rze.2_Missense_Mutation_p.R182W|ANKRD33_uc001rzg.3_Missense_Mutation_p.R88W|ANKRD33_uc001rzi.3_Missense_Mutation_p.R161W	0,1,1			probably_damaging(0.999)	p.R161W	NM_001130015	NP_001123487		tolerated(0.18)	0,1,1	ANR33_HUMAN	ANKRD33	HGNC	Q7Z3H0	ANR33_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0969)	Q0VAA8_HUMAN		5	1060	+			UPI0000246D2C	161					SNV	ANKRD33,missense_variant,p.Arg286Trp,ENST00000301190,NM_001130015.1,NM_182608.3;ANKRD33,missense_variant,p.Arg161Trp,ENST00000340970,;ANKRD33,missense_variant,p.Arg92Trp,ENST00000538991,;ANKRD33,non_coding_transcript_exon_variant,,ENST00000547119,;ANKRD33,downstream_gene_variant,,ENST00000549316,;ANKRD33,3_prime_UTR_variant,,ENST00000549751,;ANKRD33,non_coding_transcript_exon_variant,,ENST00000548526,;ANKRD33,non_coding_transcript_exon_variant,,ENST00000548383,;ANKRD33,non_coding_transcript_exon_variant,,ENST00000550652,;	uc001rzf.3	c.481C>T	852/1507	2	2			c.481C>T						12	SNP	c.(481-483)CGG>TGG	48	48				0	Broad	ankyrin repeat domain 33 isoform 1			52284586		0.552	ENSG00000167612	651	g.chr12:52284586C>T										12.328023	KEEP	1	5	-1	13	10	1	5	-1	14.645982	13	10	0.206897	1	0	0	0	0	1	0	0	0	--	--		0	T			ANKRD33_uc001rzh.3_3'UTR|ANKRD33_uc001rzd.2_Missense_Mutation_p.R286W|ANKRD33_uc001rze.2_Missense_Mutation_p.R182W|ANKRD33_uc001rzg.3_Missense_Mutation_p.R88W|ANKRD33_uc001rzi.3_Missense_Mutation_p.R161W	169	GBM-19-5947-TP	p.R161W	C	ACTCCTAGAACGGCTGCAGGC	NM_001130015	NP_001123487	52284586	Q7Z3H0	ANR33_HUMAN	0		BRCA - Breast invasive adenocarcinoma(357;0.0969)	5	1060	+	T	T			Missense_Mutation	161						
ANKRD33	0	broad.mit.edu	GRCh37	12	52284606	52284606	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-28-2513-01	TCGA-28-2513-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340970.4:c.501C>A	p.Ser167Arg	p.S167R	ENST00000340970		167	agC/agA	0			1			A	S/R	uc001rzf.3	protein_coding		CCDS44892.1			501/819										0	c.(499-501)AGC>AGA			hmmpanther:PTHR24137,hmmpanther:PTHR24137:SF1	ankyrin repeat domain 33 isoform 1				ENSP00000344690		6-May									COSM3398803,COSM3398804	6-May	.		ENST00000340970	Transcript						ENSG00000167612	g.chr12:52284606C>A	13788			MODERATE		1.795	low	getma.org/?cm=msa&ty=f&p=ANR33_HUMAN&rb=107&re=272&var=S167R	NA	getma.org/?cm=var&var=hg19,12,52284606,C,A&fts=all	S167R	--	--	1																																		ANKRD33_uc001rzh.3_3'UTR|ANKRD33_uc001rzd.2_Missense_Mutation_p.S292R|ANKRD33_uc001rze.2_Missense_Mutation_p.S188R|ANKRD33_uc001rzg.3_Missense_Mutation_p.S94R|ANKRD33_uc001rzi.3_Missense_Mutation_p.S167R	1,1			benign(0.02)	p.S167R	NM_001130015	NP_001123487		tolerated(0.25)	1,1	ANR33_HUMAN	ANKRD33	HGNC	Q7Z3H0	ANR33_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0969)	Q0VAA8_HUMAN		5	1080	+			UPI0000246D2C	167					SNV	ANKRD33,missense_variant,p.Ser292Arg,ENST00000301190,NM_001130015.1,NM_182608.3;ANKRD33,missense_variant,p.Ser167Arg,ENST00000340970,;ANKRD33,missense_variant,p.Ser98Arg,ENST00000538991,;ANKRD33,non_coding_transcript_exon_variant,,ENST00000547119,;ANKRD33,downstream_gene_variant,,ENST00000549316,;ANKRD33,3_prime_UTR_variant,,ENST00000549751,;ANKRD33,non_coding_transcript_exon_variant,,ENST00000548526,;ANKRD33,non_coding_transcript_exon_variant,,ENST00000548383,;ANKRD33,non_coding_transcript_exon_variant,,ENST00000550652,;	uc001rzf.3	c.501C>A	872/1507	1	1			c.501C>A						12	SNP	c.(499-501)AGC>AGA	49	49				0	Broad	ankyrin repeat domain 33 isoform 1			52284606		0.557	ENSG00000167612	651	g.chr12:52284606C>A										4.872464	KEEP	2	1	0.333333333	8	10	2	1	0.333333333	6.945176	8	10	0.157895	1	0	0	0	0	1	0	0	0	--	--		0	A			ANKRD33_uc001rzh.3_3'UTR|ANKRD33_uc001rzd.2_Missense_Mutation_p.S292R|ANKRD33_uc001rze.2_Missense_Mutation_p.S188R|ANKRD33_uc001rzg.3_Missense_Mutation_p.S94R|ANKRD33_uc001rzi.3_Missense_Mutation_p.S167R	213	GBM-28-2513-TP	p.S167R	C	CTACCTTGAGCCTCCCCTTTG	NM_001130015	NP_001123487	52284606	Q7Z3H0	ANR33_HUMAN	0		BRCA - Breast invasive adenocarcinoma(357;0.0969)	5	1080	+	A	A			Missense_Mutation	167						
ANKRD33	0	broad.mit.edu	GRCh37	12	52284680	52284680	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-28-5214-01	TCGA-28-5214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340970.4:c.575G>C	p.Ser192Thr	p.S192T	ENST00000340970		192	aGt/aCt	0			1			C	S/T	uc001rzf.3	protein_coding		CCDS44892.1			575/819										0	c.(574-576)AGT>ACT			hmmpanther:PTHR24137,hmmpanther:PTHR24137:SF1	ankyrin repeat domain 33 isoform 1				ENSP00000344690		6-May									COSM3398805,COSM3398806	6-May	.		ENST00000340970	Transcript						ENSG00000167612	g.chr12:52284680G>C	13788			MODERATE		2.325	medium	getma.org/?cm=msa&ty=f&p=ANR33_HUMAN&rb=107&re=272&var=S192T	NA	getma.org/?cm=var&var=hg19,12,52284680,G,C&fts=all	S192T	--	--	1																																		ANKRD33_uc001rzh.3_3'UTR|ANKRD33_uc001rzd.2_Missense_Mutation_p.S317T|ANKRD33_uc001rze.2_Missense_Mutation_p.S213T|ANKRD33_uc001rzg.3_Missense_Mutation_p.S119T|ANKRD33_uc001rzi.3_Missense_Mutation_p.S192T	1,1			probably_damaging(0.991)	p.S192T	NM_001130015	NP_001123487		deleterious(0)	1,1	ANR33_HUMAN	ANKRD33	HGNC	Q7Z3H0	ANR33_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0969)	Q0VAA8_HUMAN		5	1154	+			UPI0000246D2C	192					SNV	ANKRD33,missense_variant,p.Ser317Thr,ENST00000301190,NM_001130015.1,NM_182608.3;ANKRD33,missense_variant,p.Ser192Thr,ENST00000340970,;ANKRD33,missense_variant,p.Ser123Thr,ENST00000538991,;ANKRD33,non_coding_transcript_exon_variant,,ENST00000547119,;ANKRD33,downstream_gene_variant,,ENST00000549316,;ANKRD33,3_prime_UTR_variant,,ENST00000549751,;ANKRD33,non_coding_transcript_exon_variant,,ENST00000548526,;ANKRD33,non_coding_transcript_exon_variant,,ENST00000548383,;ANKRD33,non_coding_transcript_exon_variant,,ENST00000550652,;	uc001rzf.3	c.575G>C	946/1507	4	4			c.575G>C						12	SNP	c.(574-576)AGT>ACT	33	33				0	Broad	ankyrin repeat domain 33 isoform 1			52284680		0.632	ENSG00000167612	651	g.chr12:52284680G>C										1.803295	KEEP	0	3	-1	16	23	0	3	-1	7.886695	16	23	0.085714	1	0	0	0	0	1	0	0	0	--	--		0	C			ANKRD33_uc001rzh.3_3'UTR|ANKRD33_uc001rzd.2_Missense_Mutation_p.S317T|ANKRD33_uc001rze.2_Missense_Mutation_p.S213T|ANKRD33_uc001rzg.3_Missense_Mutation_p.S119T|ANKRD33_uc001rzi.3_Missense_Mutation_p.S192T	221	GBM-28-5214-TP	p.S192T	G	AGCCTGGCCAGTCCCTTCGTC	NM_001130015	NP_001123487	52284680	Q7Z3H0	ANR33_HUMAN	0		BRCA - Breast invasive adenocarcinoma(357;0.0969)	5	1154	+	C	C			Missense_Mutation	192						
ANKRD34B	0	broad.mit.edu	GRCh37	5	79855139	79855139	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01	TCGA-19-2631-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338682.3:c.700G>A	p.Ala234Thr	p.A234T	ENST00000338682	NM_001004441.2	234	Gca/Aca	0			1			T	A/T	uc010jam.2	protein_coding	YES	CCDS34194.1			700/1545									pancreas(1)	1	c.(700-702)GCA>ACA			Low_complexity_(Seg):seg,hmmpanther:PTHR24156:SF1,hmmpanther:PTHR24156	ankyrin repeat domain 34B				ENSP00000339802		5-May									COSM2156367	5-May	.		ENST00000338682	Transcript				cytoplasm|nucleus		ENSG00000189127	g.chr5:79855139C>T	33736			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=AN34B_HUMAN&rb=149&re=348&var=A234T	NA	getma.org/?cm=var&var=hg19,5,79855139,C,T&fts=all	A234T	--	--	1																																		ANKRD34B_uc003kgw.2_Missense_Mutation_p.A234T|ANKRD34B_uc010jan.2_Missense_Mutation_p.A234T	1	1		benign(0.001)	p.A234T	NM_001004441	NP_001004441		tolerated(0.38)	1	AN34B_HUMAN	ANKRD34B	HGNC	A5PLL1	AN34B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)			4	1050	-		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	UPI00003672FA	234					SNV	ANKRD34B,missense_variant,p.Ala234Thr,ENST00000338682,NM_001004441.2;ANKRD34B,downstream_gene_variant,,ENST00000508916,;	uc010jam.2	c.700G>A	1373/3938	1	1			c.700G>A						5	SNP	c.(700-702)GCA>ACA	1	1			pancreas(1)	1	Broad	ankyrin repeat domain 34B			79855139		0.522	ENSG00000189127	653	g.chr5:79855139C>T		cytoplasm|nucleus								140.862489	KEEP	25	30	-1	41	44	25	30	-1	142.164816	41	44	0.393939	1	0	0	0	0	1	0	0	0	--	--		0	T			ANKRD34B_uc003kgw.2_Missense_Mutation_p.A234T|ANKRD34B_uc010jan.2_Missense_Mutation_p.A234T	167	GBM-19-2631-TP	p.A234T	C	GGGGCCAATGCAGGTTTCCTC	NM_001004441	NP_001004441	79855139	A5PLL1	AN34B_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)	4	1050	-	T	T		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	Missense_Mutation	234						
ANKRD35	148741	broad.mit.edu	GRCh37	1	145558859	145558859	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs150752253	byFrequency	TCGA-06-0128-01	TCGA-06-0128-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355594.4:c.478G>A	p.Ala160Thr	p.A160T	ENST00000355594	NM_144698.4	160	Gca/Aca	0	A:0		1			A	A/T	uc001eob.1	protein_coding	YES	CCDS919.1			478/3006									ovary(4)|skin(1)	5	c.(478-480)GCA>ACA			Gene3D:1.25.40.20,Pfam_domain:PF12796,Prints_domain:PR01415,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24161,hmmpanther:PTHR24161:SF14,SMART_domains:SM00248,Superfamily_domains:SSF48403	ankyrin repeat domain 35			A:0.0005	ENSP00000347802		14-Jul	0.00028				0.000454	0.000406	0.0011	0.000184	rs150752253,COSM462855	14-Jul	common_variant		ENST00000355594	Transcript						ENSG00000198483	g.chr1:145558859G>A	26323			MODERATE		3.285	medium	getma.org/?cm=msa&ty=f&p=ANR35_HUMAN&rb=124&re=216&var=A160T	getma.org/pdb.php?prot=ANR35_HUMAN&from=124&to=216&var=A160T	getma.org/?cm=var&var=hg19,1,145558859,G,A&fts=all	A160T	--	--	1																																		NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.A3T	0,1	1		probably_damaging(0.948)	p.A160T	NM_144698	NP_653299		deleterious(0)	0,1	ANR35_HUMAN	ANKRD35	HGNC	Q8N283	ANR35_HUMAN					7	586	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		UPI000013E1CE	160			ANK 4.		SNV	ANKRD35,missense_variant,p.Ala160Thr,ENST00000355594,NM_144698.4;ANKRD35,3_prime_UTR_variant,,ENST00000544626,;	uc001eob.1	c.478G>A	565/3342	2	2			c.478G>A						1	SNP	c.(478-480)GCA>ACA	46	46			ovary(4)|skin(1)	5	Broad	ankyrin repeat domain 35			145558859		0.577	ENSG00000198483	654	g.chr1:145558859G>A				Melanoma(9;127 754 22988 51047)			Melanoma(9;127 754 22988 51047)			318.954101	KEEP	65	62	-1	87	86	65	62	-1	320.646263	87	86	0.413793	1	0	0	0	0	1	0	0	0	--	--		0	A			NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.A3T	14	GBM-06-0128-TP	p.A160T	G	CCTGATGATCGCATCGCTGGG	NM_144698	NP_653299	145558859	Q8N283	ANR35_HUMAN	0			7	586	+	A	A	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Missense_Mutation	160			ANK 4.			
ANKRD35	148741	broad.mit.edu	GRCh37	1	145558841	145558841	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01	TCGA-06-2563-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355594.4:c.460C>T	p.Arg154Cys	p.R154C	ENST00000355594	NM_144698.4	154	Cgt/Tgt	0			1			T	R/C	uc001eob.1	protein_coding	YES	CCDS919.1			460/3006									ovary(4)|skin(1)	5	c.(460-462)CGT>TGT			Gene3D:1.25.40.20,Pfam_domain:PF12796,Prints_domain:PR01415,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24161,hmmpanther:PTHR24161:SF14,SMART_domains:SM00248,Superfamily_domains:SSF48403	ankyrin repeat domain 35				ENSP00000347802		14-Jul	1.65E-05			0.000116		1.50E-05			rs782131391,COSM895200	14-Jul	.		ENST00000355594	Transcript						ENSG00000198483	g.chr1:145558841C>T	26323			MODERATE		2.275	medium	getma.org/?cm=msa&ty=f&p=ANR35_HUMAN&rb=124&re=216&var=R154C	getma.org/pdb.php?prot=ANR35_HUMAN&from=124&to=216&var=R154C	getma.org/?cm=var&var=hg19,1,145558841,C,T&fts=all	R154C	--	--	1																																		NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Translation_Start_Site	0,1	1		benign(0)	p.R154C	NM_144698	NP_653299		deleterious(0.03)	0,1	ANR35_HUMAN	ANKRD35	HGNC	Q8N283	ANR35_HUMAN					7	568	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		UPI000013E1CE	154			ANK 4.		SNV	ANKRD35,missense_variant,p.Arg154Cys,ENST00000355594,NM_144698.4;ANKRD35,synonymous_variant,p.=,ENST00000544626,;	uc001eob.1	c.460C>T	547/3342	1	1			c.460C>T						1	SNP	c.(460-462)CGT>TGT	7	7			ovary(4)|skin(1)	5	Broad	ankyrin repeat domain 35			145558841		0.557	ENSG00000198483	654	g.chr1:145558841C>T				Melanoma(9;127 754 22988 51047)			Melanoma(9;127 754 22988 51047)			210.474285	KEEP	39	41	-1	62	65	39	41	-1	212.124255	62	65	0.39779	1	0	0	0	0	1	0	0	0	--	--		0	T			NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Translation_Start_Site	86	GBM-06-2563-TP	p.R154C	C	GCAGGATGGACGTACACCCCT	NM_144698	NP_653299	145558841	Q8N283	ANR35_HUMAN	0			7	568	+	T	T	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Missense_Mutation	154			ANK 4.			
ANKRD36	375248		GRCh37	2	97869931	97869931	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000420699.2:c.2992A>T	p.Thr998Ser	p.T998S	ENST00000420699	NM_001164315.1	998	Aca/Tca	0																																																																																																																																																																																																																																												
ANKRD36C	400986		GRCh37	2	96553671	96553671	+	splice_donor_variant	Splice_Site	SNP	A	A	G			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000295246.5:c.1324+2T>C		p.X442_splice	ENST00000295246		442		0																																																																																																																																																																																																																																												
ANKRD40	0	broad.mit.edu	GRCh37	17	48776813	48776813	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs148279576		TCGA-32-2638-01	TCGA-32-2638-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285243.6:c.725C>T	p.Ala242Val	p.A242V	ENST00000285243	NM_052855.3	242	gCg/gTg	0	A:0		1			A	A/V	uc002iso.2	protein_coding	YES	CCDS11572.1			725/1107										0	c.(724-726)GCG>GTG			hmmpanther:PTHR24192,hmmpanther:PTHR24192:SF1,Low_complexity_(Seg):seg	ankyrin repeat domain 40			A:0.0001	ENSP00000285243		5-Mar	2.47E-05		0.000173			1.50E-05			rs148279576,COSM3402999	5-Mar	.		ENST00000285243	Transcript						ENSG00000154945	g.chr17:48776813G>A	28233			MODERATE		-0.895	neutral	getma.org/?cm=msa&ty=f&p=ANR40_HUMAN&rb=187&re=366&var=A242V	NA	getma.org/?cm=var&var=hg19,17,48776813,G,A&fts=all	A242V	--	--	1																																			0,1	1		benign(0.067)	p.A242V	NM_052855	NP_443087		tolerated(0.39)	0,1	ANR40_HUMAN	ANKRD40	HGNC	Q6AI12	ANR40_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.03e-09)		K7ERW4_HUMAN,A8IK34_HUMAN		3	980	-			UPI000006F76F	242			Pro-rich.		SNV	ANKRD40,missense_variant,p.Ala242Val,ENST00000285243,NM_052855.3;ANKRD40,downstream_gene_variant,,ENST00000513072,;RP11-294J22.6,downstream_gene_variant,,ENST00000574246,;Y_RNA,downstream_gene_variant,,ENST00000364470,;ANKRD40,downstream_gene_variant,,ENST00000507114,;	uc002iso.2	c.725C>T	995/4184	1	1			c.725C>T						17	SNP	c.(724-726)GCG>GTG	62	62				0	Broad	ankyrin repeat domain 40			48776813		0.522	ENSG00000154945	658	g.chr17:48776813G>A										217.312251	KEEP	57	26	-1	57	29	57	26	-1	217.318349	57	29	0.493333	1	0	0	0	0	1	0	0	0	--	--		0	A				242	GBM-32-2638-TP	p.A242V	G	GAATGCTGGCGCTGGTCCTGC	NM_052855	NP_443087	48776813	Q6AI12	ANR40_HUMAN	0	BRCA - Breast invasive adenocarcinoma(22;2.03e-09)		3	980	-	A	A			Missense_Mutation	242			Pro-rich.			
ANKRD44	91526	broad.mit.edu	GRCh37	2	197863059	197863059	+	splice_donor_variant	Splice_Site	SNP	A	A	G			TCGA-02-2485-01	TCGA-02-2485-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282272.8:c.2724+2T>C		p.X908_splice	ENST00000282272	NM_001195144.1	908		0			1			G		uc002uua.1	protein_coding					2724/2958									ovary(4)|skin(1)	5	c.e25+1				ankyrin repeat domain 44				ENSP00000282272											COSM3407449,COSM3407450,COSM3407451,COSM3407452		.		ENST00000282272	Transcript					protein binding	ENSG00000065413	g.chr2:197863059A>G	25259			HIGH	24/26							--	--	1																																		ANKRD44_uc002utz.3_Splice_Site_p.K623_splice	1,1,1,1				p.K891_splice	NM_153697	NP_710181			1,1,1,1		ANKRD44	HGNC	Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		Q53T07_HUMAN,J3KN93_HUMAN,C9JY51_HUMAN		25	2750	-			UPI0001AE772B						SNV	ANKRD44,splice_donor_variant,,ENST00000328737,;ANKRD44,splice_donor_variant,,ENST00000450567,;ANKRD44,splice_donor_variant,,ENST00000337207,;ANKRD44,splice_donor_variant,,ENST00000282272,NM_001195144.1;ANKRD44,splice_donor_variant,,ENST00000424317,;ANKRD44,splice_donor_variant,,ENST00000448801,;ANKRD44,upstream_gene_variant,,ENST00000493808,;ANKRD44,upstream_gene_variant,,ENST00000486006,;	uc002uua.1	c.2673_splice	-/2958	5	4			c.2673_splice						2	SNP	c.e25+1	20	20			ovary(4)|skin(1)	5	Broad	ankyrin repeat domain 44			197863059		0.333	ENSG00000065413	660	g.chr2:197863059A>G			protein binding							-21.367927	KEEP	0	3	-1	69	56	0	3	-1	6.336315	69	56	0.026786	1	0	0	0	0	0	0	0	1	--	--		0	G			ANKRD44_uc002utz.3_Splice_Site_p.K623_splice	7	GBM-02-2485-TP	p.K891_splice	A	TCATTTACATACTTTACTACA	NM_153697	NP_710181	197863059	Q8N8A2	ANR44_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.246)		25	2750	-	G	G			Splice_Site							
ANKRD46	0	broad.mit.edu	GRCh37	8	101541822	101541823	+	frameshift_variant	Frame_Shift_Del	DEL	TG	TG	-			TCGA-76-6191-01	TCGA-76-6191-01	TG	TG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000520552.1:c.239_240delCA	p.Thr80SerfsTer22	p.T80Sfs*22	ENST00000520552	NM_001270379.1	80	aCA/a	0			1			-	T/X	uc003yjm.2	protein_coding	YES	CCDS59109.1			239-240/699										0	c.(238-240)ACAfs			PROSITE_profiles:PS50297,hmmpanther:PTHR24166,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	ankyrin repeat domain 46				ENSP00000429015		6-Mar										6-Mar	.		ENST00000520552	Transcript				integral to membrane		ENSG00000186106	g.chr8:101541822_101541823delTG	27229			HIGH								--	--	1																																		ANKRD46_uc003yjn.1_Frame_Shift_Del_p.T80fs|ANKRD46_uc003yjo.1_Frame_Shift_Del_p.T80fs|ANKRD46_uc003yjp.1_Frame_Shift_Del_p.T80fs		1			p.T80fs	NM_198401	NP_940683				ANR46_HUMAN	ANKRD46	HGNC	Q86W74	ANR46_HUMAN	Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)		J3KP26_HUMAN,E5RI20_HUMAN,E5RHV2_HUMAN,E5RFM7_HUMAN		3	443_444	-	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		UPI000018CE82	80			ANK 3.		deletion	ANKRD46,frameshift_variant,p.Thr80SerfsTer22,ENST00000520311,NM_001270378.1;ANKRD46,frameshift_variant,p.Thr80SerfsTer22,ENST00000519597,NM_198401.3;ANKRD46,frameshift_variant,p.Thr80SerfsTer22,ENST00000335659,NM_001270377.1;ANKRD46,frameshift_variant,p.Thr80SerfsTer22,ENST00000520552,NM_001270379.1;ANKRD46,frameshift_variant,p.Thr80SerfsTer22,ENST00000519316,;ANKRD46,frameshift_variant,p.Thr80SerfsTer22,ENST00000358990,;ANKRD46,frameshift_variant,p.Thr80SerfsTer?,ENST00000521345,;ANKRD46,frameshift_variant,p.Thr80SerfsTer22,ENST00000524072,;ANKRD46,frameshift_variant,p.Thr80SerfsTer?,ENST00000523000,;	uc003yjm.2	c.239_240delCA	401-402/1686	5	5			c.239_240delCA						8	DEL	c.(238-240)ACAfs	62	62				0	Broad	ankyrin repeat domain 46			101541823		0.436	ENSG00000186106	662	g.chr8:101541822_101541823delTG		integral to membrane																					0.31	1	1	0	1	0	0	0	0	0	--	--		0	-			ANKRD46_uc003yjn.1_Frame_Shift_Del_p.T80fs|ANKRD46_uc003yjo.1_Frame_Shift_Del_p.T80fs|ANKRD46_uc003yjp.1_Frame_Shift_Del_p.T80fs	274	GBM-76-6191-TP	p.T80fs	TG	GGTGAAGAGCTGTGTTTCCTTG	NM_198401	NP_940683	101541822	Q86W74	ANR46_HUMAN	0	Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)		3	443_444	-	-	-	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Frame_Shift_Del	80			ANK 3.			
ANKRD50	57182	broad.mit.edu	GRCh37	4	125593092	125593092	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0241-01	TCGA-06-0241-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504087.1:c.1340T>C	p.Leu447Ser	p.L447S	ENST00000504087	NM_020337.2	447	tTa/tCa	0			1			G	L/S	uc003ifg.3	protein_coding	YES	CCDS34060.1			1340/4290									central_nervous_system(1)	1	c.(1339-1341)TTA>TCA			hmmpanther:PTHR24151:SF1,hmmpanther:PTHR24151	ankyrin repeat domain 50				ENSP00000425658		5-Apr									COSM2151134	5-Apr	.		ENST00000504087	Transcript						ENSG00000151458	g.chr4:125593092A>G	29223			MODERATE		1.965	medium	getma.org/?cm=msa&ty=f&p=ANR50_HUMAN&rb=408&re=575&var=L447S	NA	getma.org/?cm=var&var=hg19,4,125593092,A,G&fts=all	L447S	--	--	1																																		ANKRD50_uc011cgo.1_Missense_Mutation_p.L268S|ANKRD50_uc010inw.2_Missense_Mutation_p.L447S	1	1		probably_damaging(0.995)	p.L447S	NM_020337	NP_065070		deleterious(0)	1	ANR50_HUMAN	ANKRD50	HGNC	Q9ULJ7	ANR50_HUMAN			Q8TB46_HUMAN		3	1606	-			UPI00002377E8	447					SNV	ANKRD50,missense_variant,p.Leu447Ser,ENST00000504087,NM_020337.2;ANKRD50,missense_variant,p.Leu268Ser,ENST00000515641,NM_001167882.1;	uc003ifg.3	c.1340T>C	2378/8794	3	3			c.1340T>C						4	SNP	c.(1339-1341)TTA>TCA	49	49			central_nervous_system(1)	1	Broad	ankyrin repeat domain 50			125593092		0.388	ENSG00000151458	665	g.chr4:125593092A>G										405.801743	KEEP	53	66	-1	94	79	53	66	-1	407.254744	94	79	0.420455	1	0	0	0	0	1	0	0	0	--	--		0	G			ANKRD50_uc011cgo.1_Missense_Mutation_p.L268S|ANKRD50_uc010inw.2_Missense_Mutation_p.L447S	57	GBM-06-0241-TP	p.L447S	A	CAATGGTGTTAAATTCTTGGC	NM_020337	NP_065070	125593092	Q9ULJ7	ANR50_HUMAN	0			3	1606	-	G	G			Missense_Mutation	447						
ANKRD50	0	broad.mit.edu	GRCh37	4	125591834	125591834	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-76-6193-01	TCGA-76-6193-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504087.1:c.2598T>C	p.Leu866=	p.L866=	ENST00000504087	NM_020337.2	866	ctT/ctC	0			1			G	L	uc003ifg.3	protein_coding	YES	CCDS34060.1			2598/4290									central_nervous_system(1)	1	c.(2596-2598)CTT>CTC			PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24151:SF1,hmmpanther:PTHR24151,Pfam_domain:PF13637,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	ankyrin repeat domain 50				ENSP00000425658		5-Apr									COSM3409039	5-Apr	.		ENST00000504087	Transcript						ENSG00000151458	g.chr4:125591834A>G	29223			LOW								--	--	1																																		ANKRD50_uc011cgo.1_Silent_p.L687L|ANKRD50_uc010inw.2_Silent_p.L866L	1	1			p.L866L	NM_020337	NP_065070			1	ANR50_HUMAN	ANKRD50	HGNC	Q9ULJ7	ANR50_HUMAN			Q8TB46_HUMAN		3	2864	-			UPI00002377E8	866			ANK 12.		SNV	ANKRD50,synonymous_variant,p.=,ENST00000504087,NM_020337.2;ANKRD50,synonymous_variant,p.=,ENST00000515641,NM_001167882.1;	uc003ifg.3	c.2598T>C	3636/8794	4	4			c.2598T>C						4	SNP	c.(2596-2598)CTT>CTC	32	32			central_nervous_system(1)	1	Broad	ankyrin repeat domain 50			125591834		0.393	ENSG00000151458	665	g.chr4:125591834A>G										71.463491	KEEP	20	9	-1	68	69	20	9	-1	85.084656	68	69	0.190789	1	0	0	0	0	0	0	1	0	--	--		0	G			ANKRD50_uc011cgo.1_Silent_p.L687L|ANKRD50_uc010inw.2_Silent_p.L866L	276	GBM-76-6193-TP	p.L866L	A	CTTGTTCAATAAGTGCTTCAC	NM_020337	NP_065070	125591834	Q9ULJ7	ANR50_HUMAN	0			3	2864	-	G	G			Silent	866			ANK 12.			
ANKRD52	283373	broad.mit.edu	GRCh37	12	56639298	56639298	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0033-01	TCGA-02-0033-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267116.7:c.2267C>T	p.Thr756Met	p.T756M	ENST00000267116	NM_173595.3	756	aCg/aTg	0			1			A	T/M	uc001skm.3	protein_coding	YES	CCDS44920.1			2267/3231									ovary(2)	2	c.(2266-2268)ACG>ATG			PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24158:SF17,hmmpanther:PTHR24158,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	ankyrin repeat domain 52				ENSP00000267116		21/28	8.26E-06	0.000103							rs771081273,COSM941599	21/28	.		ENST00000267116	Transcript					protein binding	ENSG00000139645	g.chr12:56639298G>A	26614			MODERATE		3.015	medium	getma.org/?cm=msa&ty=f&p=ANR52_HUMAN&rb=725&re=820&var=T756M	getma.org/pdb.php?prot=ANR52_HUMAN&from=725&to=820&var=T756M	getma.org/?cm=var&var=hg19,12,56639298,G,A&fts=all	T756M	--	--	1																																			0,1	1		probably_damaging(0.996)	p.T756M	NM_173595	NP_775866		deleterious(0)	0,1	ANR52_HUMAN	ANKRD52	HGNC	Q8NB46	ANR52_HUMAN					21	2357	-			UPI0000237861	756			ANK 22.		SNV	ANKRD52,missense_variant,p.Thr756Met,ENST00000267116,NM_173595.3;ANKRD52,upstream_gene_variant,,ENST00000548241,;	uc001skm.3	c.2267C>T	2389/8688	1	1			c.2267C>T						12	SNP	c.(2266-2268)ACG>ATG	59	59			ovary(2)	2	Broad	ankyrin repeat domain 52			56639298		0.627	ENSG00000139645	666	g.chr12:56639298G>A			protein binding							9.663964	KEEP	2	9	-1	36	42	2	9	-1	20.999507	36	42	0.123457	1	0	0	0	0	1	0	0	0	--	--		0	A				2	GBM-02-0033-TP	p.T756M	G	GTGAATGGGCGTGCGGCCCTT	NM_173595	NP_775866	56639298	Q8NB46	ANR52_HUMAN	0			21	2357	-	A	A			Missense_Mutation	756			ANK 22.			
ANKRD52	283373	broad.mit.edu	GRCh37	12	56638930	56638930	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0129-01	TCGA-06-0129-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267116.7:c.2449T>C	p.Ser817Pro	p.S817P	ENST00000267116	NM_173595.3	817	Tcg/Ccg	0			1			G	S/P	uc001skm.3	protein_coding	YES	CCDS44920.1			2449/3231									ovary(2)	2	c.(2449-2451)TCG>CCG			PROSITE_profiles:PS50297,hmmpanther:PTHR24158:SF17,hmmpanther:PTHR24158,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	ankyrin repeat domain 52				ENSP00000267116		22/28									COSM3398895	22/28	.		ENST00000267116	Transcript					protein binding	ENSG00000139645	g.chr12:56638930A>G	26614			MODERATE		-0.745	neutral	getma.org/?cm=msa&ty=f&p=ANR52_HUMAN&rb=725&re=820&var=S817P	NA	getma.org/?cm=var&var=hg19,12,56638930,A,G&fts=all	S817P	--	--	1																																			1	1		benign(0.4)	p.S817P	NM_173595	NP_775866		tolerated(0.23)	1	ANR52_HUMAN	ANKRD52	HGNC	Q8NB46	ANR52_HUMAN					22	2539	-			UPI0000237861	817			ANK 23.		SNV	ANKRD52,missense_variant,p.Ser817Pro,ENST00000267116,NM_173595.3;ANKRD52,upstream_gene_variant,,ENST00000548241,;	uc001skm.3	c.2449T>C	2571/8688	3	3			c.2449T>C						12	SNP	c.(2449-2451)TCG>CCG	5	5			ovary(2)	2	Broad	ankyrin repeat domain 52			56638930		0.522	ENSG00000139645	666	g.chr12:56638930A>G			protein binding							244.722329	KEEP	39	46	-1	49	62	39	46	-1	245.948777	49	62	0.409357	1	0	0	0	0	1	0	0	0	--	--		0	G				15	GBM-06-0129-TP	p.S817P	A	TCCAGGTACGAAAACGGGCTG	NM_173595	NP_775866	56638930	Q8NB46	ANR52_HUMAN	0			22	2539	-	G	G			Missense_Mutation	817			ANK 23.			
ANKRD52	283373	broad.mit.edu	GRCh37	12	56639372	56639372	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-06-0129-01	TCGA-06-0129-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267116.7:c.2193T>G	p.Thr731=	p.T731=	ENST00000267116	NM_173595.3	731	acT/acG	0			1			C	T	uc001skm.3	protein_coding	YES	CCDS44920.1			2193/3231									ovary(2)	2	c.(2191-2193)ACT>ACG			PROSITE_profiles:PS50297,hmmpanther:PTHR24158:SF17,hmmpanther:PTHR24158,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	ankyrin repeat domain 52				ENSP00000267116		21/28									COSM3398896	21/28	.		ENST00000267116	Transcript					protein binding	ENSG00000139645	g.chr12:56639372A>C	26614			LOW								--	--	1																																			1	1			p.T731T	NM_173595	NP_775866			1	ANR52_HUMAN	ANKRD52	HGNC	Q8NB46	ANR52_HUMAN					21	2283	-			UPI0000237861	731			ANK 21.		SNV	ANKRD52,synonymous_variant,p.=,ENST00000267116,NM_173595.3;ANKRD52,upstream_gene_variant,,ENST00000548241,;	uc001skm.3	c.2193T>G	2315/8688	3	3			c.2193T>G						12	SNP	c.(2191-2193)ACT>ACG	9	9			ovary(2)	2	Broad	ankyrin repeat domain 52			56639372		0.587	ENSG00000139645	666	g.chr12:56639372A>C			protein binding							126.93955	KEEP	24	24	-1	25	17	24	24	-1	127.51011	25	17	0.6	1	0	0	0	0	0	0	1	0	--	--		0	C				15	GBM-06-0129-TP	p.T731T	A	CCTCACAGCCAGTCACTGCCT	NM_173595	NP_775866	56639372	Q8NB46	ANR52_HUMAN	0			21	2283	-	C	C			Silent	731			ANK 21.			
ANKRD53	79998	broad.mit.edu	GRCh37	2	71209104	71209104	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01	TCGA-06-0169-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360589.3:c.656C>T	p.Ala219Val	p.A219V	ENST00000360589	NM_001115116.1	219	gCc/gTc	0			1			T	A/V	uc002shl.3	protein_coding	YES	CCDS46321.1			656/1593										0	c.(655-657)GCC>GTC			PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24160,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	ankyrin repeat domain 53 isoform a				ENSP00000353796		6-Apr									COSM3407956,COSM3407955	6-Apr	.		ENST00000360589	Transcript						ENSG00000144031	g.chr2:71209104C>T	25691			MODERATE		0.96	low	getma.org/?cm=msa&ty=f&p=ANR53_HUMAN&rb=178&re=274&var=A219V	getma.org/pdb.php?prot=ANR53_HUMAN&from=178&to=274&var=A219V	getma.org/?cm=var&var=hg19,2,71209104,C,T&fts=all	A219V	--	--	1																																		ANKRD53_uc002shk.3_Missense_Mutation_p.A219V|ANKRD53_uc002shm.3_Intron	1,1	1		benign(0.159)	p.A219V	NM_001115116	NP_001108588		deleterious(0.02)	1,1	ANR53_HUMAN	ANKRD53	HGNC	Q8N9V6	ANR53_HUMAN					4	857	+			UPI000013D952	219			ANK 3.		SNV	ANKRD53,missense_variant,p.Ala219Val,ENST00000272421,NM_024933.3;ANKRD53,missense_variant,p.Ala185Val,ENST00000457410,;ANKRD53,missense_variant,p.Ala219Val,ENST00000360589,NM_001115116.1;AC007040.11,intron_variant,,ENST00000606025,;ANKRD53,intron_variant,,ENST00000441349,;TEX261,downstream_gene_variant,,ENST00000272438,NM_144582.2;ANKRD53,intron_variant,,ENST00000483334,;AC007040.11,intron_variant,,ENST00000453130,;TEX261,downstream_gene_variant,,ENST00000478068,;ANKRD53,downstream_gene_variant,,ENST00000496088,;ANKRD53,upstream_gene_variant,,ENST00000460927,;	uc002shl.3	c.656C>T	690/1666	2	2			c.656C>T						2	SNP	c.(655-657)GCC>GTC	33	33				0	Broad	ankyrin repeat domain 53 isoform a			71209104		0.577	ENSG00000144031	667	g.chr2:71209104C>T										-16.191647	KEEP	1	3	-1	55	56	1	3	-1	6.909524	55	56	0.039604	1	0	0	0	0	1	0	0	0	--	--		0	T			ANKRD53_uc002shk.3_Missense_Mutation_p.A219V|ANKRD53_uc002shm.3_Intron	34	GBM-06-0169-TP	p.A219V	C	CACCTGGCAGCCCGTGACGGC	NM_001115116	NP_001108588	71209104	Q8N9V6	ANR53_HUMAN	0			4	857	+	T	T			Missense_Mutation	219			ANK 3.			
ANKRD55	0	broad.mit.edu	GRCh37	5	55407551	55407551	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs147414262	byFrequency	TCGA-76-4928-01	TCGA-76-4928-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341048.4:c.1024C>T	p.Arg342Trp	p.R342W	ENST00000341048	NM_024669.2	342	Cgg/Tgg	0	A:0	A:0	1	A:0		A	R/W	uc003jqu.2	protein_coding	YES	CCDS34161.1			1024/1845									skin(1)	1	c.(1024-1026)CGG>TGG			hmmpanther:PTHR24158:SF21,hmmpanther:PTHR24158	ankyrin repeat domain 55 isoform 1		A:0	A:0.0014	ENSP00000342295	A:0.004	12-Oct	0.00259		0.000261		0.0237	0.00198	0.0114		rs147414262,COSM3410327	12-Oct	common_variant		ENST00000341048	Transcript	1	A:0.0008				ENSG00000164512	g.chr5:55407551G>A	25681			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=ANR55_HUMAN&rb=327&re=373&var=R341W	NA	getma.org/?cm=var&var=hg19,5,55407551,G,A&fts=all	R341W	--	--	1																																		ANKRD55_uc003jqt.2_Missense_Mutation_p.R54W	0,1	1		probably_damaging(0.963)	p.R342W	NM_024669	NP_078945	A:0	deleterious_low_confidence(0)	0,1	ANR55_HUMAN	ANKRD55	HGNC	Q3KP44	ANR55_HUMAN					10	1176	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	UPI00004572EF	341					SNV	ANKRD55,missense_variant,p.Arg342Trp,ENST00000341048,NM_024669.2;ANKRD55,missense_variant,p.Arg299Trp,ENST00000504958,;ANKRD55,missense_variant,p.Arg54Trp,ENST00000434982,;ANKRD55,non_coding_transcript_exon_variant,,ENST00000505970,;	uc003jqu.2	c.1024C>T	1176/2500	1	1			c.1024C>T						5	SNP	c.(1024-1026)CGG>TGG	55	55			skin(1)	1	Broad	ankyrin repeat domain 55 isoform 1			55407551		0.512	ENSG00000164512	669	g.chr5:55407551G>A										11.704728	KEEP	14	27	-1	216	216	14	27	-1	80.480633	216	216	0.093976	1	0	0	0	0	1	0	0	0	--	--		0	A			ANKRD55_uc003jqt.2_Missense_Mutation_p.R54W	268	GBM-76-4928-TP	p.R342W	G	ACGTTGAACCGTCTCTCCTTC	NM_024669	NP_078945	55407551	Q3KP44	ANR55_HUMAN	0			10	1176	-	A	A		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	Missense_Mutation	341						
ANKRD6	0	broad.mit.edu	GRCh37	6	90333750	90333750	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01	TCGA-19-5958-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339746.4:c.1192C>T	p.Arg398Trp	p.R398W	ENST00000339746	NM_001242809.1	398	Cgg/Tgg	0	G:0		1			T	R/W	uc003pni.3	protein_coding		CCDS56441.1			1192/2184									ovary(2)|pancreas(1)	3	c.(1192-1194)CGG>TGG			hmmpanther:PTHR24203,hmmpanther:PTHR24203:SF0	ankyrin repeat domain 6			G:0.0001	ENSP00000345767		16-Dec	2.48E-05					3.41E-05		6.89E-05	rs375712466,COSM1446387	16-Dec	.		ENST00000339746	Transcript					protein binding	ENSG00000135299	g.chr6:90333750C>T	17280			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=ANKR6_HUMAN&rb=380&re=725&var=R398W	NA	getma.org/?cm=var&var=hg19,6,90333750,C,T&fts=all	R398W	--	--	1																																		ANKRD6_uc003pne.3_Missense_Mutation_p.R398W|ANKRD6_uc003pnf.3_Missense_Mutation_p.R363W|ANKRD6_uc011dzy.1_Missense_Mutation_p.R398W|ANKRD6_uc010kcd.2_Missense_Mutation_p.R339W|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|ANKRD6_uc003pnh.3_5'UTR|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.3_5'UTR	0,1			probably_damaging(0.999)	p.R398W	NM_014942	NP_055757		deleterious(0)	0,1	ANKR6_HUMAN	ANKRD6	HGNC	Q9Y2G4	ANKR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0209)	E5RJR9_HUMAN,E5RJ45_HUMAN,E5RIS1_HUMAN,E5RIJ4_HUMAN		12	1533	+		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)	UPI000020D325	398					SNV	ANKRD6,missense_variant,p.Arg363Trp,ENST00000369408,NM_001242813.1;ANKRD6,missense_variant,p.Arg398Trp,ENST00000522441,NM_001242811.1;ANKRD6,missense_variant,p.Arg398Trp,ENST00000339746,NM_001242809.1;ANKRD6,missense_variant,p.Arg398Trp,ENST00000447838,NM_014942.4;ANKRD6,missense_variant,p.Arg339Trp,ENST00000520793,NM_001242814.1;ANKRD6,missense_variant,p.Arg139Trp,ENST00000518150,;ANKRD6,missense_variant,p.Arg23Trp,ENST00000492158,;LYRM2,intron_variant,,ENST00000520441,;ANKRD6,upstream_gene_variant,,ENST00000521004,;LYRM2,intron_variant,,ENST00000523793,;LYRM2,intron_variant,,ENST00000520897,;ANKRD6,upstream_gene_variant,,ENST00000483473,;ANKRD6,non_coding_transcript_exon_variant,,ENST00000415924,;ANKRD6,non_coding_transcript_exon_variant,,ENST00000518253,;ANKRD6,non_coding_transcript_exon_variant,,ENST00000479572,;LYRM2,intron_variant,,ENST00000412237,;ANKRD6,downstream_gene_variant,,ENST00000520839,;ANKRD6,upstream_gene_variant,,ENST00000521240,;ANKRD6,downstream_gene_variant,,ENST00000524056,;	uc003pni.3	c.1192C>T	1502/3073	2	2			c.1192C>T						6	SNP	c.(1192-1194)CGG>TGG	29	29			ovary(2)|pancreas(1)	3	Broad	ankyrin repeat domain 6			90333750		0.522	ENSG00000135299	672	g.chr6:90333750C>T			protein binding							16.474972	KEEP	5	1	-1	2	4	5	1	-1	16.474972	2	4	0.5	1	0	0	0	0	1	0	0	0	--	--		0	T			ANKRD6_uc003pne.3_Missense_Mutation_p.R398W|ANKRD6_uc003pnf.3_Missense_Mutation_p.R363W|ANKRD6_uc011dzy.1_Missense_Mutation_p.R398W|ANKRD6_uc010kcd.2_Missense_Mutation_p.R339W|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|ANKRD6_uc003pnh.3_5'UTR|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.3_5'UTR	176	GBM-19-5958-TP	p.R398W	C	CACATTGTACCGGGGCAAGGA	NM_014942	NP_055757	90333750	Q9Y2G4	ANKR6_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.0209)	12	1533	+	T	T		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)	Missense_Mutation	398						
ANKRD7	0	broad.mit.edu	GRCh37	7	117864828	117864828	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T			TCGA-32-4210-01	TCGA-32-4210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265224.4:c.-57C>T		*19*	ENST00000265224	NM_019644.3			0			1			T		uc003vji.2	protein_coding	YES	CCDS43638.1			-/765										0	c.(-58--54)GACGG>GATGG				ankyrin repeat domain 7				ENSP00000265224		7-Jan										7-Jan	.		ENST00000265224	Transcript			male gonad development			ENSG00000106013	g.chr7:117864828C>T	18588			MODIFIER								--	--	1																																				1				NM_019644	NP_062618				ANKR7_HUMAN	ANKRD7	HGNC	Q92527	ANKR7_HUMAN			Q9UPM1_HUMAN		1	117	+			UPI0000E826A8						SNV	ANKRD7,5_prime_UTR_variant,,ENST00000357099,;ANKRD7,5_prime_UTR_variant,,ENST00000265224,NM_019644.3;ANKRD7,5_prime_UTR_variant,,ENST00000417525,;ANKRD7,5_prime_UTR_variant,,ENST00000486422,;ANKRD7,upstream_gene_variant,,ENST00000433239,;ANKRD7,intron_variant,,ENST00000477532,;	uc003vji.2	c.-56C>T	99/1298	2	2			c.-56C>T						7	SNP	c.(-58--54)GACGG>GATGG	18	18				0	Broad	ankyrin repeat domain 7			117864828		0.602	ENSG00000106013	673	g.chr7:117864828C>T	male gonad development									100.65735	KEEP	15	25	-1	38	37	15	25	-1	102.675186	38	37	0.357143	1	0	0	0	0	0	0	0	0	--	--		0	T				245	GBM-32-4210-TP		C	GCAGGGCGGACGGCTAGGAGT	NM_019644	NP_062618	117864828	Q92527	ANKR7_HUMAN	0			1	117	+	T	T			Translation_Start_Site							
ANKRD7	0	broad.mit.edu	GRCh37	7	117864828	117864828	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T			TCGA-41-2571-01	TCGA-41-2571-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265224.4:c.-57C>T		*19*	ENST00000265224	NM_019644.3			0			1			T		uc003vji.2	protein_coding	YES	CCDS43638.1			-/765										0	c.(-58--54)GACGG>GATGG				ankyrin repeat domain 7				ENSP00000265224		7-Jan										7-Jan	.		ENST00000265224	Transcript			male gonad development			ENSG00000106013	g.chr7:117864828C>T	18588			MODIFIER								--	--	1																																				1				NM_019644	NP_062618				ANKR7_HUMAN	ANKRD7	HGNC	Q92527	ANKR7_HUMAN			Q9UPM1_HUMAN		1	117	+			UPI0000E826A8						SNV	ANKRD7,5_prime_UTR_variant,,ENST00000357099,;ANKRD7,5_prime_UTR_variant,,ENST00000265224,NM_019644.3;ANKRD7,5_prime_UTR_variant,,ENST00000417525,;ANKRD7,5_prime_UTR_variant,,ENST00000486422,;ANKRD7,upstream_gene_variant,,ENST00000433239,;ANKRD7,intron_variant,,ENST00000477532,;	uc003vji.2	c.-56C>T	99/1298	2	2			c.-56C>T						7	SNP	c.(-58--54)GACGG>GATGG	18	18				0	Broad	ankyrin repeat domain 7			117864828		0.602	ENSG00000106013	673	g.chr7:117864828C>T	male gonad development									42.04819	KEEP	10	10	-1	37	37	10	10	-1	48.441262	37	37	0.222222	1	0	0	0	0	0	0	0	0	--	--		0	T				250	GBM-41-2571-TP		C	GCAGGGCGGACGGCTAGGAGT	NM_019644	NP_062618	117864828	Q92527	ANKR7_HUMAN	0			1	117	+	T	T			Translation_Start_Site							
ANKS1A	0	broad.mit.edu	GRCh37	6	34935028	34935028	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0615-01	TCGA-12-0615-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360359.3:c.210G>A	p.Gly70=	p.G70=	ENST00000360359	NM_015245.2	70	ggG/ggA	0			1			A	G	uc003ojx.3	protein_coding	YES	CCDS4798.1			210/3405									ovary(3)|upper_aerodigestive_tract(1)	4	c.(208-210)GGG>GGA			PROSITE_profiles:PS50297,hmmpanther:PTHR24174,Gene3D:1.25.40.20,Pfam_domain:PF12796,Superfamily_domains:SSF48403	ankyrin repeat and sterile alpha motif domain				ENSP00000353518		24-Feb	8.24E-06					1.50E-05			rs761552683,COSM3411026	24-Feb	.		ENST00000360359	Transcript				cytoplasm	protein binding	ENSG00000064999	g.chr6:34935028G>A	20961			LOW								--	--	1																																		ANKS1A_uc011dss.1_Silent_p.G70G|ANKS1A_uc011dst.1_5'UTR|ANKS1A_uc010jvp.1_5'UTR|ANKS1A_uc010jvq.1_5'Flank	0,1	1			p.G70G	NM_015245	NP_056060			0,1	ANS1A_HUMAN	ANKS1A	HGNC	Q92625	ANS1A_HUMAN					2	352	+			UPI00001C1E4D	70					SNV	ANKS1A,synonymous_variant,p.=,ENST00000360359,NM_015245.2;ANKS1A,synonymous_variant,p.=,ENST00000535627,;	uc003ojx.3	c.210G>A	348/6336	2	2			c.210G>A						6	SNP	c.(208-210)GGG>GGA	33	33			ovary(3)|upper_aerodigestive_tract(1)	4	Broad	ankyrin repeat and sterile alpha motif domain			34935028		0.423	ENSG00000064999	674	g.chr6:34935028G>A		cytoplasm	protein binding							-39.970455	KEEP	3	2	-1	119	101	3	2	-1	9.752621	119	101	0.025126	1	0	0	0	0	0	0	1	0	--	--		0	A			ANKS1A_uc011dss.1_Silent_p.G70G|ANKS1A_uc011dst.1_5'UTR|ANKS1A_uc010jvp.1_5'UTR|ANKS1A_uc010jvq.1_5'Flank	117	GBM-12-0615-TP	p.G70G	G	TGTGGAGAGGGCCAAATGTGA	NM_015245	NP_056060	34935028	Q92625	ANS1A_HUMAN	0			2	352	+	A	A			Silent	70						
ANKS1B	56899	broad.mit.edu	GRCh37	12	100166859	100166859	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000547776.2:c.969C>T	p.Thr323=	p.T323=	ENST00000547776	NM_152788.4	323	acC/acT	0			1			A	T	uc001tge.1	protein_coding	YES	CCDS55872.1			969/3747										0	c.(967-969)ACC>ACT			hmmpanther:PTHR24174,hmmpanther:PTHR24174:SF3	cajalin 2 isoform a				ENSP00000449629		26-Aug	8.28E-06		8.72E-05						rs758739073,COSM3398233	26-Aug	.		ENST00000547776	Transcript				Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		ENSG00000185046	g.chr12:100166859G>A	24600			LOW								--	--	1																																		ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Silent_p.T289T	0,1	1			p.T323T	NM_152788	NP_690001			0,1	ANS1B_HUMAN	ANKS1B	HGNC	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	R4GN73_HUMAN,R4GN70_HUMAN,R4GN07_HUMAN		8	1386	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	UPI00003FE521	323					SNV	ANKS1B,synonymous_variant,p.=,ENST00000547776,NM_152788.4;ANKS1B,synonymous_variant,p.=,ENST00000329257,;ANKS1B,synonymous_variant,p.=,ENST00000549866,;ANKS1B,intron_variant,,ENST00000547010,;ANKS1B,non_coding_transcript_exon_variant,,ENST00000552472,;	uc001tge.1	c.969C>T	969/3885	2	2			c.969C>T						12	SNP	c.(967-969)ACC>ACT	32	32				0	Broad	cajalin 2 isoform a			100166859		0.323	ENSG00000185046	675	g.chr12:100166859G>A		Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane								41.630469	KEEP	7	7	-1	15	25	7	7	-1	43.496446	15	25	0.291667	1	0	0	0	0	0	0	1	0	--	--		0	A			ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Silent_p.T289T	8	GBM-02-2486-TP	p.T323T	G	CTCCAGTGACGGTTTCACCTA	NM_152788	NP_690001	100166859	Q7Z6G8	ANS1B_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	8	1386	-	A	A		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	Silent	323						
ANKS3	0	broad.mit.edu	GRCh37	16	4755095	4755095	+	splice_donor_variant	Splice_Site	SNP	C	C	T			TCGA-28-2514-01	TCGA-28-2514-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304283.4:c.868+1G>A		p.X290_splice	ENST00000304283	NM_133450.3			0			1			T		uc002cxj.1	protein_coding	YES	CCDS10520.1			868/1971										0	c.e8+1				ankyrin repeat and sterile alpha motif domain				ENSP00000304586											COSM3402333,COSM3402334		.		ENST00000304283	Transcript						ENSG00000168096	g.chr16:4755095C>T	29422			HIGH	17-Aug							--	--	1																																		ANKS3_uc002cxi.1_Splice_Site_p.E217_splice|ANKS3_uc002cxk.2_Splice_Site_p.E161_splice|ANKS3_uc002cxl.2_Splice_Site_p.E117_splice|ANKS3_uc010uxs.1_Splice_Site_p.E217_splice|ANKS3_uc002cxm.2_Splice_Site_p.E84_splice	1,1	1			p.E290_splice	NM_133450	NP_597707			1,1	ANKS3_HUMAN	ANKS3	HGNC	Q6ZW76	ANKS3_HUMAN			K7ERR7_HUMAN,K7ERF3_HUMAN,K7EQE0_HUMAN,K7EKD2_HUMAN,K7EJY2_HUMAN,D3DUE4_HUMAN		8	1163	-			UPI00001C08FE						SNV	ANKS3,splice_donor_variant,,ENST00000304283,NM_133450.3;ANKS3,splice_donor_variant,,ENST00000446014,NM_001242929.1;ANKS3,splice_donor_variant,,ENST00000450067,;ANKS3,splice_donor_variant,,ENST00000585773,;ANKS3,splice_donor_variant,,ENST00000592421,;ANKS3,splice_donor_variant,,ENST00000592698,;ANKS3,splice_donor_variant,,ENST00000586605,;ANKS3,splice_donor_variant,,ENST00000588513,;ANKS3,splice_donor_variant,,ENST00000586166,;ANKS3,downstream_gene_variant,,ENST00000589065,;ANKS3,splice_donor_variant,,ENST00000591653,;ANKS3,splice_donor_variant,,ENST00000590803,;ANKS3,splice_donor_variant,,ENST00000592077,;ANKS3,splice_donor_variant,,ENST00000590193,;ANKS3,splice_donor_variant,,ENST00000590730,;ANKS3,splice_donor_variant,,ENST00000592068,;ANKS3,upstream_gene_variant,,ENST00000589035,;ANKS3,upstream_gene_variant,,ENST00000591185,;ANKS3,downstream_gene_variant,,ENST00000586159,;ANKS3,upstream_gene_variant,,ENST00000592840,;ANKS3,downstream_gene_variant,,ENST00000586632,;	uc002cxj.1	c.868_splice	-/2662	5	2			c.868_splice						16	SNP	c.e8+1	41	41				0	Broad	ankyrin repeat and sterile alpha motif domain			4755095		0.597	ENSG00000168096	676	g.chr16:4755095C>T										-21.21423	KEEP	7	6	-1	117	129	7	6	-1	24.409282	117	129	0.058296	1	0	0	0	0	0	0	0	1	--	--		0	T			ANKS3_uc002cxi.1_Splice_Site_p.E217_splice|ANKS3_uc002cxk.2_Splice_Site_p.E161_splice|ANKS3_uc002cxl.2_Splice_Site_p.E117_splice|ANKS3_uc010uxs.1_Splice_Site_p.E217_splice|ANKS3_uc002cxm.2_Splice_Site_p.E84_splice	214	GBM-28-2514-TP	p.E290_splice	C	GGGCCACTCACCATAGCGAGG	NM_133450	NP_597707	4755095	Q6ZW76	ANKS3_HUMAN	0			8	1163	-	T	T			Splice_Site							
ANKS3	0	broad.mit.edu	GRCh37	16	4764084	4764084	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs146798732		TCGA-76-4927-01	TCGA-76-4927-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304283.4:c.677C>T	p.Pro226Leu	p.P226L	ENST00000304283	NM_133450.3	226	cCc/cTc	0	A:0.0002		1			A	P/L	uc002cxj.1	protein_coding	YES	CCDS10520.1			677/1971										0	c.(676-678)CCC>CTC			hmmpanther:PTHR24184:SF6,hmmpanther:PTHR24184,SMART_domains:SM00248	ankyrin repeat and sterile alpha motif domain			A:0	ENSP00000304586		18-Jul	2.47E-05	0.000289							rs146798732,COSM3402335,COSM3402336	18-Jul	.		ENST00000304283	Transcript						ENSG00000168096	g.chr16:4764084G>A	29422			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=ANKS3_HUMAN&rb=190&re=389&var=P226L	NA	getma.org/?cm=var&var=hg19,16,4764084,G,A&fts=all	P226L	--	--	1																																		ANKS3_uc002cxi.1_Missense_Mutation_p.P153L|ANKS3_uc002cxk.2_Missense_Mutation_p.P97L|ANKS3_uc002cxl.2_Missense_Mutation_p.P53L|ANKS3_uc010uxs.1_Missense_Mutation_p.P153L|ANKS3_uc002cxm.2_Missense_Mutation_p.P20L	0,1,1	1		benign(0.004)	p.P226L	NM_133450	NP_597707		tolerated(0.21)	0,1,1	ANKS3_HUMAN	ANKS3	HGNC	Q6ZW76	ANKS3_HUMAN			K7ERR7_HUMAN,K7ERF3_HUMAN,K7EQE0_HUMAN,K7EKD2_HUMAN,K7EJY2_HUMAN,D3DUE4_HUMAN		7	972	-			UPI00001C08FE	226					SNV	ANKS3,missense_variant,p.Pro226Leu,ENST00000304283,NM_133450.3;ANKS3,missense_variant,p.Pro97Leu,ENST00000446014,NM_001242929.1;ANKS3,missense_variant,p.Pro20Leu,ENST00000450067,;ANKS3,missense_variant,p.Pro153Leu,ENST00000585773,;ANKS3,missense_variant,p.Pro119Leu,ENST00000592421,;ANKS3,missense_variant,p.Pro20Leu,ENST00000592698,;ANKS3,missense_variant,p.Pro53Leu,ENST00000586605,;ANKS3,missense_variant,p.Pro20Leu,ENST00000586166,;ANKS3,missense_variant,p.Pro119Leu,ENST00000589065,;ANKS3,downstream_gene_variant,,ENST00000592711,;ANKS3,missense_variant,p.Pro119Leu,ENST00000592068,;ANKS3,3_prime_UTR_variant,,ENST00000592077,;ANKS3,3_prime_UTR_variant,,ENST00000590193,;ANKS3,3_prime_UTR_variant,,ENST00000590730,;ANKS3,3_prime_UTR_variant,,ENST00000586159,;ANKS3,non_coding_transcript_exon_variant,,ENST00000591653,;ANKS3,non_coding_transcript_exon_variant,,ENST00000590803,;ANKS3,non_coding_transcript_exon_variant,,ENST00000593120,;ANKS3,non_coding_transcript_exon_variant,,ENST00000586632,;ANKS3,downstream_gene_variant,,ENST00000591281,;	uc002cxj.1	c.677C>T	972/2662	2	2			c.677C>T						16	SNP	c.(676-678)CCC>CTC	25	25				0	Broad	ankyrin repeat and sterile alpha motif domain			4764084		0.617	ENSG00000168096	676	g.chr16:4764084G>A										110.864658	KEEP	16	25	-1	35	45	16	25	-1	113.569129	35	45	0.338983	1	0	0	0	0	1	0	0	0	--	--		0	A			ANKS3_uc002cxi.1_Missense_Mutation_p.P153L|ANKS3_uc002cxk.2_Missense_Mutation_p.P97L|ANKS3_uc002cxl.2_Missense_Mutation_p.P53L|ANKS3_uc010uxs.1_Missense_Mutation_p.P153L|ANKS3_uc002cxm.2_Missense_Mutation_p.P20L	267	GBM-76-4927-TP	p.P226L	G	GGGCAGAGAGGGCGAGTAAGT	NM_133450	NP_597707	4764084	Q6ZW76	ANKS3_HUMAN	0			7	972	-	A	A			Missense_Mutation	226						
ANKS4B	0	broad.mit.edu	GRCh37	16	21261689	21261689	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01	TCGA-27-1834-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311620.5:c.802C>T	p.Arg268Cys	p.R268C	ENST00000311620	NM_145865.2	268	Cgt/Tgt	0			1			T	R/C	uc010bwp.1	protein_coding	YES	CCDS42130.1			802/1254									ovary(2)	2	c.(802-804)CGT>TGT				harmonin-interacting ankyrin-repeat containing				ENSP00000308772		2-Feb									COSM3402161	2-Feb	.		ENST00000311620	Transcript						ENSG00000175311	g.chr16:21261689C>T	26795			MODERATE		2.425	medium	getma.org/?cm=msa&ty=f&p=ANS4B_HUMAN&rb=129&re=328&var=R268C	NA	getma.org/?cm=var&var=hg19,16,21261689,C,T&fts=all	R268C	--	--	1																																		CRYM_uc010bwq.1_Intron	1	1		probably_damaging(0.946)	p.R268C	NM_145865	NP_665872		deleterious(0.02)	1	ANS4B_HUMAN	ANKS4B	HGNC	Q8N8V4	ANS4B_HUMAN		GBM - Glioblastoma multiforme(48;0.0565)			2	845	+			UPI000013F1C0	268					SNV	ANKS4B,missense_variant,p.Arg268Cys,ENST00000311620,NM_145865.2;CRYM,intron_variant,,ENST00000570401,;CRYM,intron_variant,,ENST00000574448,;	uc010bwp.1	c.802C>T	875/2936	2	2			c.802C>T						16	SNP	c.(802-804)CGT>TGT	22	22			ovary(2)	2	Broad	harmonin-interacting ankyrin-repeat containing			21261689		0.468	ENSG00000175311	677	g.chr16:21261689C>T										116.702562	KEEP	19	18	-1	21	16	19	18	-1	116.715034	21	16	0.514286	1	0	0	0	0	1	0	0	0	--	--		0	T			CRYM_uc010bwq.1_Intron	193	GBM-27-1834-TP	p.R268C	C	CATTCTCAATCGTCCAGGTCT	NM_145865	NP_665872	21261689	Q8N8V4	ANS4B_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0565)	2	845	+	T	T			Missense_Mutation	268						
ANKS6	203286	broad.mit.edu	GRCh37	9	101530447	101530447	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0744-01	TCGA-06-0744-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000353234.4:c.2058G>A	p.Arg686=	p.R686=	ENST00000353234		686	cgG/cgA	0			1			T	R	uc004ayu.2	protein_coding	YES	CCDS43856.1			2058/2616									ovary(2)	2	c.(2056-2058)CGG>CGA			hmmpanther:PTHR10627,hmmpanther:PTHR10627:SF2	ankyrin repeat and sterile alpha motif domain				ENSP00000297837		15-Nov									COSM2151675	15-Nov	.		ENST00000353234	Transcript	1					ENSG00000165138	g.chr9:101530447C>T	26724			LOW								--	--	1																																		ANKS6_uc004ayt.2_Silent_p.R385R|ANKS6_uc004ayv.1_Silent_p.R148R|ANKS6_uc004ayw.1_Silent_p.R268R|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA	1	1			p.R686R	NM_173551	NP_775822			1	ANKS6_HUMAN	ANKS6	HGNC	Q68DC2	ANKS6_HUMAN			F5H7X9_HUMAN		11	2079	-		Acute lymphoblastic leukemia(62;0.0527)	UPI0000530317	686			Ser-rich.		SNV	ANKS6,synonymous_variant,p.=,ENST00000353234,;ANKS6,synonymous_variant,p.=,ENST00000375018,NM_173551.3;ANKS6,synonymous_variant,p.=,ENST00000540940,;ANKS6,synonymous_variant,p.=,ENST00000375019,;ANKS6,synonymous_variant,p.=,ENST00000444472,;	uc004ayu.2	c.2058G>A	2106/7164	2	2			c.2058G>A						9	SNP	c.(2056-2058)CGG>CGA	20	20			ovary(2)	2	Broad	ankyrin repeat and sterile alpha motif domain			101530447		0.577	ENSG00000165138	678	g.chr9:101530447C>T										51.911363	KEEP	11	8	-1	25	10	11	8	-1	52.452651	25	10	0.387755	1	0	0	0	0	0	0	1	0	--	--		0	T			ANKS6_uc004ayt.2_Silent_p.R385R|ANKS6_uc004ayv.1_Silent_p.R148R|ANKS6_uc004ayw.1_Silent_p.R268R|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA	66	GBM-06-0744-TP	p.R686R	C	CAGGGCTTGACCGATGGCTGG	NM_173551	NP_775822	101530447	Q68DC2	ANKS6_HUMAN	0			11	2079	-	T	T		Acute lymphoblastic leukemia(62;0.0527)	Silent	686			Ser-rich.			
ANKS6	0	broad.mit.edu	GRCh37	9	101530471	101530471	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-28-2502-01	TCGA-28-2502-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000353234.4:c.2034A>T	p.Leu678Phe	p.L678F	ENST00000353234		678	ttA/ttT	0			1			A	L/F	uc004ayu.2	protein_coding	YES	CCDS43856.1			2034/2616									ovary(2)	2	c.(2032-2034)TTA>TTT			hmmpanther:PTHR10627,hmmpanther:PTHR10627:SF2	ankyrin repeat and sterile alpha motif domain				ENSP00000297837		15-Nov									COSM3413196	15-Nov	.		ENST00000353234	Transcript	1					ENSG00000165138	g.chr9:101530471T>A	26724			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=ANKS6_HUMAN&rb=601&re=772&var=L678F	NA	getma.org/?cm=var&var=hg19,9,101530471,T,A&fts=all	L678F	--	--	1																																		ANKS6_uc004ayt.2_Missense_Mutation_p.L377F|ANKS6_uc004ayv.1_Missense_Mutation_p.L140F|ANKS6_uc004ayw.1_Missense_Mutation_p.L260F|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA	1	1		probably_damaging(0.986)	p.L678F	NM_173551	NP_775822		deleterious(0)	1	ANKS6_HUMAN	ANKS6	HGNC	Q68DC2	ANKS6_HUMAN			F5H7X9_HUMAN		11	2055	-		Acute lymphoblastic leukemia(62;0.0527)	UPI0000530317	678			Ser-rich.		SNV	ANKS6,missense_variant,p.Leu678Phe,ENST00000353234,;ANKS6,missense_variant,p.Leu678Phe,ENST00000375018,NM_173551.3;ANKS6,missense_variant,p.Leu483Phe,ENST00000540940,;ANKS6,missense_variant,p.Leu377Phe,ENST00000375019,;ANKS6,missense_variant,p.Leu147Phe,ENST00000444472,;	uc004ayu.2	c.2034A>T	2082/7164	2	2			c.2034A>T						9	SNP	c.(2032-2034)TTA>TTT	30	30			ovary(2)	2	Broad	ankyrin repeat and sterile alpha motif domain			101530471		0.582	ENSG00000165138	678	g.chr9:101530471T>A										34.817768	KEEP	9	9	-1	53	44	9	9	-1	44.466107	53	44	0.175258	1	0	0	0	0	1	0	0	0	--	--		0	A			ANKS6_uc004ayt.2_Missense_Mutation_p.L377F|ANKS6_uc004ayv.1_Missense_Mutation_p.L140F|ANKS6_uc004ayw.1_Missense_Mutation_p.L260F|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA	210	GBM-28-2502-TP	p.L678F	T	TCTGCTCCAATAATCCGGCTG	NM_173551	NP_775822	101530471	Q68DC2	ANKS6_HUMAN	0			11	2055	-	A	A		Acute lymphoblastic leukemia(62;0.0527)	Missense_Mutation	678			Ser-rich.			
ANKS6	0	broad.mit.edu	GRCh37	9	101530526	101530526	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01	TCGA-41-4097-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000353234.4:c.1979G>A	p.Ser660Asn	p.S660N	ENST00000353234		660	aGc/aAc	0			1			T	S/N	uc004ayu.2	protein_coding	YES	CCDS43856.1			1979/2616									ovary(2)	2	c.(1978-1980)AGC>AAC			hmmpanther:PTHR10627,hmmpanther:PTHR10627:SF2	ankyrin repeat and sterile alpha motif domain				ENSP00000297837		15-Nov									COSM3413197	15-Nov	.		ENST00000353234	Transcript	1					ENSG00000165138	g.chr9:101530526C>T	26724			MODERATE		1.955	medium	getma.org/?cm=msa&ty=f&p=ANKS6_HUMAN&rb=601&re=772&var=S660N	NA	getma.org/?cm=var&var=hg19,9,101530526,C,T&fts=all	S660N	--	--	1																																		ANKS6_uc004ayt.2_Missense_Mutation_p.S359N|ANKS6_uc004ayv.1_Missense_Mutation_p.S122N|ANKS6_uc004ayw.1_Missense_Mutation_p.S242N|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA	1	1		possibly_damaging(0.723)	p.S660N	NM_173551	NP_775822		deleterious(0.01)	1	ANKS6_HUMAN	ANKS6	HGNC	Q68DC2	ANKS6_HUMAN			F5H7X9_HUMAN		11	2000	-		Acute lymphoblastic leukemia(62;0.0527)	UPI0000530317	660			Ser-rich.		SNV	ANKS6,missense_variant,p.Ser660Asn,ENST00000353234,;ANKS6,missense_variant,p.Ser660Asn,ENST00000375018,NM_173551.3;ANKS6,missense_variant,p.Ser465Asn,ENST00000540940,;ANKS6,missense_variant,p.Ser359Asn,ENST00000375019,;ANKS6,missense_variant,p.Ser129Asn,ENST00000444472,;	uc004ayu.2	c.1979G>A	2027/7164	2	2			c.1979G>A						9	SNP	c.(1978-1980)AGC>AAC	20	20			ovary(2)	2	Broad	ankyrin repeat and sterile alpha motif domain			101530526		0.438	ENSG00000165138	678	g.chr9:101530526C>T										1.929018	KEEP	0	2	-1	8	20	0	2	-1	6.427919	8	20	0.08	1	0	0	0	0	1	0	0	0	--	--		0	T			ANKS6_uc004ayt.2_Missense_Mutation_p.S359N|ANKS6_uc004ayv.1_Missense_Mutation_p.S122N|ANKS6_uc004ayw.1_Missense_Mutation_p.S242N|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA	257	GBM-41-4097-TP	p.S660N	C	ATTGTCTATGCTGCCACCTGA	NM_173551	NP_775822	101530526	Q68DC2	ANKS6_HUMAN	0			11	2000	-	T	T		Acute lymphoblastic leukemia(62;0.0527)	Missense_Mutation	660			Ser-rich.			
ANKS6	203286		GRCh37	9	101533299	101533299	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000353234.4:c.1851C>T	p.Ser617=	p.S617=	ENST00000353234		617	agC/agT	0																																																																																																																																																																																																																																												
ANLN	0	broad.mit.edu	GRCh37	7	36459856	36459856	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-5208-01	TCGA-28-5208-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265748.2:c.1948A>G	p.Arg650Gly	p.R650G	ENST00000265748	NM_018685.2	650	Aga/Gga	0			1			G	R/G	uc003tff.2	protein_coding	YES	CCDS5447.1			1948/3375									ovary(2)|skin(1)	3	c.(1948-1950)AGA>GGA			hmmpanther:PTHR21538,hmmpanther:PTHR21538:SF20	anillin, actin binding protein				ENSP00000265748		24-Nov									COSM3412008	24-Nov	.		ENST00000265748	Transcript	1		cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	ENSG00000011426	g.chr7:36459856A>G	14082			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=ANLN_HUMAN&rb=601&re=798&var=R650G	NA	getma.org/?cm=var&var=hg19,7,36459856,A,G&fts=all	R650G	--	--	1																																		ANLN_uc011kaz.1_Missense_Mutation_p.R562G|ANLN_uc003tfg.2_Missense_Mutation_p.R613G|ANLN_uc010kxe.2_Missense_Mutation_p.R612G	1	1		probably_damaging(0.983)	p.R650G	NM_018685	NP_061155		deleterious(0)	1	ANLN_HUMAN	ANLN	HGNC	Q9NQW6	ANLN_HUMAN			C9JJT6_HUMAN		11	2152	+			UPI00001A95DE	650			Interaction with F-actin.		SNV	ANLN,missense_variant,p.Arg650Gly,ENST00000265748,NM_018685.2;ANLN,missense_variant,p.Arg613Gly,ENST00000396068,NM_001284302.1,NM_001284301.1;ANLN,missense_variant,p.Arg9Gly,ENST00000446635,;ANLN,intron_variant,,ENST00000428612,;ANLN,upstream_gene_variant,,ENST00000457743,;ANLN,downstream_gene_variant,,ENST00000495714,;ANLN,downstream_gene_variant,,ENST00000441696,;ANLN,downstream_gene_variant,,ENST00000452877,;	uc003tff.2	c.1948A>G	2169/4787	4	4			c.1948A>G						7	SNP	c.(1948-1950)AGA>GGA	32	32			ovary(2)|skin(1)	3	Broad	anillin, actin binding protein			36459856		0.433	ENSG00000011426	680	g.chr7:36459856A>G	cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding							883.32927	KEEP	122	130	-1	100	132	122	130	-1	883.402202	100	132	0.513393	1	0	0	0	0	1	0	0	0	--	--		0	G			ANLN_uc011kaz.1_Missense_Mutation_p.R562G|ANLN_uc003tfg.2_Missense_Mutation_p.R613G|ANLN_uc010kxe.2_Missense_Mutation_p.R612G	217	GBM-28-5208-TP	p.R650G	A	AAAATTCCAAAGAACTCGTGT	NM_018685	NP_061155	36459856	Q9NQW6	ANLN_HUMAN	0			11	2152	+	G	G			Missense_Mutation	650			Interaction with F-actin.			
ANLN	0	broad.mit.edu	GRCh37	7	36478889	36478889	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-6192-01	TCGA-76-6192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265748.2:c.2960G>C	p.Arg987Thr	p.R987T	ENST00000265748	NM_018685.2	987	aGa/aCa	0			1			C	R/T	uc003tff.2	protein_coding	YES	CCDS5447.1			2960/3375									ovary(2)|skin(1)	3	c.(2959-2961)AGA>ACA			Gene3D:2.30.29.30,Pfam_domain:PF00169,PROSITE_profiles:PS50003,hmmpanther:PTHR21538,hmmpanther:PTHR21538:SF20,SMART_domains:SM00233,Superfamily_domains:SSF50729	anillin, actin binding protein				ENSP00000265748		21/24	8.27E-06			0.000175					rs747031560,COSM3412009	21/24	.		ENST00000265748	Transcript	1		cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	ENSG00000011426	g.chr7:36478889G>C	14082			MODERATE		2.105	medium	getma.org/?cm=msa&ty=f&p=ANLN_HUMAN&rb=984&re=1107&var=R987T	getma.org/pdb.php?prot=ANLN_HUMAN&from=984&to=1107&var=R987T	getma.org/?cm=var&var=hg19,7,36478889,G,C&fts=all	R987T	--	--	1																																		ANLN_uc011kaz.1_Missense_Mutation_p.R899T|ANLN_uc003tfg.2_Missense_Mutation_p.R950T|ANLN_uc010kxe.2_Missense_Mutation_p.R949T	0,1	1		benign(0.029)	p.R987T	NM_018685	NP_061155		deleterious(0.03)	0,1	ANLN_HUMAN	ANLN	HGNC	Q9NQW6	ANLN_HUMAN			C9JJT6_HUMAN		21	3164	+			UPI00001A95DE	987			PH.|Localization to the cleavage furrow.		SNV	ANLN,missense_variant,p.Arg987Thr,ENST00000265748,NM_018685.2;ANLN,missense_variant,p.Arg950Thr,ENST00000396068,NM_001284302.1,NM_001284301.1;ANLN,missense_variant,p.Arg209Thr,ENST00000457743,;ANLN,missense_variant,p.Arg152Thr,ENST00000428612,;	uc003tff.2	c.2960G>C	3181/4787	4	4			c.2960G>C						7	SNP	c.(2959-2961)AGA>ACA	35	35			ovary(2)|skin(1)	3	Broad	anillin, actin binding protein			36478889		0.303	ENSG00000011426	680	g.chr7:36478889G>C	cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding							24.717319	KEEP	5	2	-1	8	7	5	2	-1	25.363674	8	7	0.318182	1	0	0	0	0	1	0	0	0	--	--		0	C			ANLN_uc011kaz.1_Missense_Mutation_p.R899T|ANLN_uc003tfg.2_Missense_Mutation_p.R950T|ANLN_uc010kxe.2_Missense_Mutation_p.R949T	275	GBM-76-6192-TP	p.R987T	G	GTTGAAGAAAGAGGTTTTCTA	NM_018685	NP_061155	36478889	Q9NQW6	ANLN_HUMAN	0			21	3164	+	C	C			Missense_Mutation	987			PH.|Localization to the cleavage furrow.			
ANO1	0	broad.mit.edu	GRCh37	11	69924755	69924755	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01	TCGA-15-0742-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355303.5:c.43C>T	p.Arg15Cys	p.R15C	ENST00000355303	NM_018043.5	15	Cgc/Tgc	0	T:0	T:0	1	T:0		T	R/C	uc001opj.2	protein_coding	YES	CCDS44663.1			43/2961									ovary(1)|pancreas(1)	2	c.(43-45)CGC>TGC			hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF13	anoctamin 1, calcium activated chloride channel		T:0	T:0.0002	ENSP00000347454	T:0.001	26-Jan	5.84E-05					0.000126			rs199763025,COSM3398094,COSM3398093	26-Jan	.		ENST00000355303	Transcript		T:0.0002	multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	ENSG00000131620	g.chr11:69924755C>T	21625			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=ANO1_HUMAN&rb=1&re=200&var=R15C	NA	getma.org/?cm=var&var=hg19,11,69924755,C,T&fts=all	R15C	--	--	1																																			0,1,1	1		benign(0.416)	p.R15C	NM_018043	NP_060513	T:0	tolerated(0.06)	0,1,1	ANO1_HUMAN	ANO1	HGNC	Q5XXA6	ANO1_HUMAN					1	348	+			UPI000013CE03	15			Cytoplasmic (Potential).		SNV	ANO1,missense_variant,p.Arg15Cys,ENST00000355303,NM_018043.5;ANO1,missense_variant,p.Arg15Cys,ENST00000538023,;ANO1,missense_variant,p.Arg15Cys,ENST00000531604,;ANO1,5_prime_UTR_variant,,ENST00000398543,;RNU6-1175P,downstream_gene_variant,,ENST00000365200,;ANO1-AS2,upstream_gene_variant,,ENST00000531347,;ANO1-AS2,upstream_gene_variant,,ENST00000533327,;	uc001opj.2	c.43C>T	348/4790	2	2			c.43C>T						11	SNP	c.(43-45)CGC>TGC	41	41			ovary(1)|pancreas(1)	2	Broad	anoctamin 1, calcium activated chloride channel			69924755		0.731	ENSG00000131620	681	g.chr11:69924755C>T	multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity							22.192421	KEEP	10	3	-1	14	6	10	3	-1	23.048404	14	6	0.307692	1	0	0	0	0	1	0	0	0	--	--		0	T				153	GBM-15-0742-TP	p.R15C	C	GGCCGAGGACCGCAGCGTCCA	NM_018043	NP_060513	69924755	Q5XXA6	ANO1_HUMAN	0			1	348	+	T	T			Missense_Mutation	15			Cytoplasmic (Potential).			
ANO1	0	broad.mit.edu	GRCh37	11	70009414	70009414	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-81-5910-01	TCGA-81-5910-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355303.5:c.1918G>A	p.Val640Met	p.V640M	ENST00000355303	NM_018043.5	640	Gtg/Atg	0	C:0	C:0	1	C:0.0029		A	V/M	uc001opj.2	protein_coding	YES	CCDS44663.1			1918/2961									ovary(1)|pancreas(1)	2	c.(1918-1920)GTG>ATG			hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF13,Pfam_domain:PF04547	anoctamin 1, calcium activated chloride channel		C:0	C:0.0001	ENSP00000347454	C:0	19/26	1.65E-05			0.000232					rs370304912,COSM3398097,COSM3398098,COSM3398096	19/26	.		ENST00000355303	Transcript		C:0.0004	multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	ENSG00000131620	g.chr11:70009414G>A	21625			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=ANO1_HUMAN&rb=320&re=928&var=V640M	NA	getma.org/?cm=var&var=hg19,11,70009414,G,A&fts=all	V640M	--	--	1																																		ANO1_uc001opk.1_Missense_Mutation_p.V582M|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.V349M	0,1,1,1	1		possibly_damaging(0.833)	p.V640M	NM_018043	NP_060513	C:0	deleterious(0.03)	0,1,1,1	ANO1_HUMAN	ANO1	HGNC	Q5XXA6	ANO1_HUMAN					19	2223	+			UPI000013CE03	640			Extracellular (Potential).		SNV	ANO1,missense_variant,p.Val640Met,ENST00000355303,NM_018043.5;ANO1,missense_variant,p.Val640Met,ENST00000538023,;ANO1,missense_variant,p.Val494Met,ENST00000398543,;ANO1,missense_variant,p.Val349Met,ENST00000531349,;ANO1,missense_variant,p.Val494Met,ENST00000530676,;ANO1,missense_variant,p.Val582Met,ENST00000316296,;ANO1,downstream_gene_variant,,ENST00000531300,;ANO1,upstream_gene_variant,,ENST00000529636,;	uc001opj.2	c.1918G>A	2223/4790	2	2			c.1918G>A						11	SNP	c.(1918-1920)GTG>ATG	43	43			ovary(1)|pancreas(1)	2	Broad	anoctamin 1, calcium activated chloride channel			70009414		0.527	ENSG00000131620	681	g.chr11:70009414G>A	multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity							32.385448	KEEP	5	9	-1	9	24	5	9	-1	33.399842	9	24	0.324324	1	0	0	0	0	1	0	0	0	--	--		0	A			ANO1_uc001opk.1_Missense_Mutation_p.V582M|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.V349M	289	GBM-81-5910-TP	p.V640M	G	GGGCGACTACGTGTACATTTT	NM_018043	NP_060513	70009414	Q5XXA6	ANO1_HUMAN	0			19	2223	+	A	A			Missense_Mutation	640			Extracellular (Potential).			
ANO2	57101	broad.mit.edu	GRCh37	12	5842030	5842030	+	splice_donor_variant	Splice_Site	SNP	A	A	G			TCGA-02-0055-01	TCGA-02-0055-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327087.8:c.1434+2T>C		p.X478_splice	ENST00000327087	NM_001278596.1	478		0			1			G		uc001qnm.2	protein_coding					1437/3000									ovary(4)|large_intestine(2)|central_nervous_system(1)	7	c.e14+1				anoctamin 2				ENSP00000348453											COSM3398954,COSM3398953		.		ENST00000356134	Transcript				chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	ENSG00000047617	g.chr12:5842030A>G	1183			HIGH	15/26							--	--	1																																			1,1				p.Q478_splice	NM_020373	NP_065106			1,1	ANO2_HUMAN	ANO2	HGNC	Q9NQ90	ANO2_HUMAN			Q69YW4_HUMAN		14	1506	-			UPI00000715DF						SNV	ANO2,splice_donor_variant,,ENST00000356134,;ANO2,splice_donor_variant,,ENST00000327087,NM_001278596.1,NM_001278597.1;ANO2,intron_variant,,ENST00000546188,;ANO2,intron_variant,,ENST00000545860,;ANO2,splice_donor_variant,,ENST00000542326,;ANO2,intron_variant,,ENST00000538154,;ANO2,intron_variant,,ENST00000540543,;	uc001qnm.2	c.1434_splice	-/3717	5	4			c.1434_splice						12	SNP	c.e14+1	32	32			ovary(4)|large_intestine(2)|central_nervous_system(1)	7	Broad	anoctamin 2			5842030		0.483	ENSG00000047617	683	g.chr12:5842030A>G		chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity							2.031176	KEEP	4	1	-1	30	34	4	1	-1	13.140152	30	34	0.080645	1	0	0	0	0	0	0	0	1	--	--		0	G				4	GBM-02-0055-TP	p.Q478_splice	A	TGAAAACCAAACCTGGGCACG	NM_020373	NP_065106	5842030	Q9NQ90	ANO2_HUMAN	0			14	1506	-	G	G			Splice_Site							
ANO2	0	broad.mit.edu	GRCh37	12	5908716	5908716	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01	TCGA-12-0692-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356134.5:c.1003C>T	p.Arg335Cys	p.R335C	ENST00000356134		335	Cgc/Tgc	0	A:0.0003		1			A	R/C	uc001qnm.2	protein_coding					1003/3000									ovary(4)|large_intestine(2)|central_nervous_system(1)	7	c.(1000-1002)CGC>TGC			hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF20	anoctamin 2			A:0	ENSP00000348453		27-Nov	4.97E-05	0.000318	0.000177					6.36E-05	rs372991029,COSM1990072,COSM1990070,COSM1990071	27-Nov	.		ENST00000356134	Transcript				chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	ENSG00000047617	g.chr12:5908716G>A	1183			MODERATE		2.725	medium	getma.org/?cm=msa&ty=f&p=ANO2_HUMAN&rb=201&re=351&var=R339C	NA	getma.org/?cm=var&var=hg19,12,5908716,G,A&fts=all	R339C	--	--	1																																			0,1,1,1			probably_damaging(0.999)	p.R334C	NM_020373	NP_065106		tolerated(0.06)	0,1,1,1	ANO2_HUMAN	ANO2	HGNC	Q9NQ90	ANO2_HUMAN			Q69YW4_HUMAN		10	1072	-			UPI00000715DF	339			Cytoplasmic (Potential).		SNV	ANO2,missense_variant,p.Arg334Cys,ENST00000327087,NM_001278596.1,NM_001278597.1;ANO2,missense_variant,p.Arg335Cys,ENST00000546188,;ANO2,missense_variant,p.Arg335Cys,ENST00000356134,;	uc001qnm.2	c.1000C>T	1075/3717	1	1			c.1000C>T						12	SNP	c.(1000-1002)CGC>TGC	56	56			ovary(4)|large_intestine(2)|central_nervous_system(1)	7	Broad	anoctamin 2			5908716		0.423	ENSG00000047617	683	g.chr12:5908716G>A		chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity							96.785613	KEEP	16	17	-1	10	10	16	17	-1	97.473	10	10	0.630435	1	0	0	0	0	1	0	0	0	--	--		0	A				122	GBM-12-0692-TP	p.R334C	G	ACTCCATAGCGCGCCCATTCT	NM_020373	NP_065106	5908716	Q9NQ90	ANO2_HUMAN	0			10	1072	-	A	A			Missense_Mutation	339			Cytoplasmic (Potential).			
ANO2	0	broad.mit.edu	GRCh37	12	5724431	5724431	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356134.5:c.1852C>T	p.Arg618Cys	p.R618C	ENST00000356134		618	Cgc/Tgc	0			1			A	R/C	uc001qnm.2	protein_coding					1852/3000									ovary(4)|large_intestine(2)|central_nervous_system(1)	7	c.(1849-1851)CGC>TGC			Pfam_domain:PF04547,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF20	anoctamin 2				ENSP00000348453		19/27	8.27E-06			0.000126					rs768041346,COSM3398913,COSM3398911,COSM3398912	19/27	.		ENST00000356134	Transcript				chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	ENSG00000047617	g.chr12:5724431G>A	1183			MODERATE		2.225	medium	getma.org/?cm=msa&ty=f&p=ANO2_HUMAN&rb=352&re=944&var=R622C	NA	getma.org/?cm=var&var=hg19,12,5724431,G,A&fts=all	R622C	--	--	1																																			0,1,1,1			probably_damaging(0.972)	p.R617C	NM_020373	NP_065106		deleterious(0)	0,1,1,1	ANO2_HUMAN	ANO2	HGNC	Q9NQ90	ANO2_HUMAN			Q69YW4_HUMAN		18	1921	-			UPI00000715DF	622			Cytoplasmic (Potential).		SNV	ANO2,missense_variant,p.Arg618Cys,ENST00000356134,;ANO2,missense_variant,p.Arg618Cys,ENST00000546188,;ANO2,missense_variant,p.Arg617Cys,ENST00000327087,NM_001278596.1,NM_001278597.1;ANO2,missense_variant,p.Arg177Cys,ENST00000545860,;ANO2,non_coding_transcript_exon_variant,,ENST00000541874,;	uc001qnm.2	c.1849C>T	1924/3717	2	2			c.1849C>T						12	SNP	c.(1849-1851)CGC>TGC	32	32			ovary(4)|large_intestine(2)|central_nervous_system(1)	7	Broad	anoctamin 2			5724431		0.458	ENSG00000047617	683	g.chr12:5724431G>A		chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity							26.439291	KEEP	6	6	-1	10	14	6	6	-1	27.727526	10	14	0.294118	1	0	0	0	0	1	0	0	0	--	--		0	A				232	GBM-32-1982-TP	p.R617C	G	AGGATCAGGCGCTCTTCAAAA	NM_020373	NP_065106	5724431	Q9NQ90	ANO2_HUMAN	0			18	1921	-	A	A			Missense_Mutation	622			Cytoplasmic (Potential).			
ANO2	0	broad.mit.edu	GRCh37	12	5908716	5908716	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-2571-01	TCGA-41-2571-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356134.5:c.1003C>T	p.Arg335Cys	p.R335C	ENST00000356134		335	Cgc/Tgc	0	A:0.0003		1			A	R/C	uc001qnm.2	protein_coding					1003/3000									ovary(4)|large_intestine(2)|central_nervous_system(1)	7	c.(1000-1002)CGC>TGC			hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF20	anoctamin 2			A:0	ENSP00000348453		27-Nov	4.97E-05	0.000318	0.000177					6.36E-05	rs372991029,COSM1990072,COSM1990070,COSM1990071	27-Nov	.		ENST00000356134	Transcript				chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	ENSG00000047617	g.chr12:5908716G>A	1183			MODERATE		2.725	medium	getma.org/?cm=msa&ty=f&p=ANO2_HUMAN&rb=201&re=351&var=R339C	NA	getma.org/?cm=var&var=hg19,12,5908716,G,A&fts=all	R339C	--	--	1																																			0,1,1,1			probably_damaging(0.999)	p.R334C	NM_020373	NP_065106		tolerated(0.06)	0,1,1,1	ANO2_HUMAN	ANO2	HGNC	Q9NQ90	ANO2_HUMAN			Q69YW4_HUMAN		10	1072	-			UPI00000715DF	339			Cytoplasmic (Potential).		SNV	ANO2,missense_variant,p.Arg334Cys,ENST00000327087,NM_001278596.1,NM_001278597.1;ANO2,missense_variant,p.Arg335Cys,ENST00000546188,;ANO2,missense_variant,p.Arg335Cys,ENST00000356134,;	uc001qnm.2	c.1000C>T	1075/3717	1	1			c.1000C>T						12	SNP	c.(1000-1002)CGC>TGC	56	56			ovary(4)|large_intestine(2)|central_nervous_system(1)	7	Broad	anoctamin 2			5908716		0.423	ENSG00000047617	683	g.chr12:5908716G>A		chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity							37.360637	KEEP	8	8	-1	24	20	8	8	-1	39.838612	24	20	0.269231	1	0	0	0	0	1	0	0	0	--	--		0	A				250	GBM-41-2571-TP	p.R334C	G	ACTCCATAGCGCGCCCATTCT	NM_020373	NP_065106	5908716	Q9NQ90	ANO2_HUMAN	0			10	1072	-	A	A			Missense_Mutation	339			Cytoplasmic (Potential).			
ANO2	0	broad.mit.edu	GRCh37	12	5687643	5687643	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-41-4097-01	TCGA-41-4097-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356134.5:c.2278C>G	p.Pro760Ala	p.P760A	ENST00000356134		760	Ccc/Gcc	0			1			C	P/A	uc001qnm.2	protein_coding					2278/3000									ovary(4)|large_intestine(2)|central_nervous_system(1)	7	c.(2275-2277)CCC>GCC			Pfam_domain:PF04547,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF20,Transmembrane_helices:TMhelix	anoctamin 2				ENSP00000348453		23/27									COSM3398906,COSM3398904,COSM3398905	23/27	.		ENST00000356134	Transcript				chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	ENSG00000047617	g.chr12:5687643G>C	1183			MODERATE		3.85	high	getma.org/?cm=msa&ty=f&p=ANO2_HUMAN&rb=352&re=944&var=P764A	NA	getma.org/?cm=var&var=hg19,12,5687643,G,C&fts=all	P764A	--	--	1																																			1,1,1			possibly_damaging(0.907)	p.P759A	NM_020373	NP_065106		deleterious(0)	1,1,1	ANO2_HUMAN	ANO2	HGNC	Q9NQ90	ANO2_HUMAN			Q69YW4_HUMAN		22	2347	-			UPI00000715DF	764			Helical; (Potential).		SNV	ANO2,missense_variant,p.Pro760Ala,ENST00000356134,;ANO2,missense_variant,p.Pro760Ala,ENST00000546188,;ANO2,missense_variant,p.Pro759Ala,ENST00000327087,NM_001278596.1,NM_001278597.1;	uc001qnm.2	c.2275C>G	2350/3717	3	3			c.2275C>G						12	SNP	c.(2275-2277)CCC>GCC	3	3			ovary(4)|large_intestine(2)|central_nervous_system(1)	7	Broad	anoctamin 2			5687643		0.537	ENSG00000047617	683	g.chr12:5687643G>C		chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity							12.21691	KEEP	4	2	-1	28	22	4	2	-1	18.568079	28	22	0.12766	1	0	0	0	0	1	0	0	0	--	--		0	C				257	GBM-41-4097-TP	p.P759A	G	GGTGCCAGGGGAAAGGAGGCC	NM_020373	NP_065106	5687643	Q9NQ90	ANO2_HUMAN	0			22	2347	-	C	C			Missense_Mutation	764			Helical; (Potential).			
ANO4	121601	broad.mit.edu	GRCh37	12	101336194	101336194	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0122-01	TCGA-06-0122-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392979.3:c.232C>T	p.Arg78Ter	p.R78*	ENST00000392979	NM_178826.3	78	Cga/Tga	0			1			T	R/*	uc010svm.1	protein_coding		CCDS66445.1			337/2868									ovary(4)|skin(2)	6	c.(337-339)CGA>TGA			hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF28	anoctamin 4				ENSP00000376703		28-May									COSM2149234,COSM2149235	28-May	.		ENST00000392977	Transcript				chloride channel complex	chloride channel activity	ENSG00000151572	g.chr12:101336194C>T	23837			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,12,101336194,C,T&fts=all	R113*	--	--	1				HNSCC(74;0.22)																														ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Nonsense_Mutation_p.R78*|ANO4_uc001thx.2_Nonsense_Mutation_p.R113*	1,1				p.R113*	NM_178826	NP_849148			1,1	ANO4_HUMAN	ANO4	HGNC	Q32M45	ANO4_HUMAN					5	909	+			UPI0000577AB6	113			Extracellular (Potential).		SNV	ANO4,stop_gained,p.Arg78Ter,ENST00000392979,NM_178826.3,NM_001286616.1;ANO4,stop_gained,p.Arg113Ter,ENST00000392977,NM_001286615.1;ANO4,stop_gained,p.Arg279Ter,ENST00000538618,;ANO4,5_prime_UTR_variant,,ENST00000299222,;ANO4,stop_gained,p.Arg113Ter,ENST00000549155,;	uc010svm.1	c.337C>T	547/3509	5	2			c.337C>T						12	SNP	c.(337-339)CGA>TGA	24	24			ovary(4)|skin(2)	6	Broad	anoctamin 4			101336194		0.388	ENSG00000151572	685	g.chr12:101336194C>T		chloride channel complex	chloride channel activity							115.498764	KEEP	26	21	-1	49	58	26	21	-1	120.069449	49	58	0.306569	1	0	0	0	0	0	1	0	0	--	--	HNSCC(74;0.22)	0	T			ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Nonsense_Mutation_p.R78*|ANO4_uc001thx.2_Nonsense_Mutation_p.R113*	10	GBM-06-0122-TP	p.R113*	C	ACTTTACTTTCGAGATGGAAA	NM_178826	NP_849148	101336194	Q32M45	ANO4_HUMAN	0			5	909	+	T	T			Nonsense_Mutation	113			Extracellular (Potential).			
ANO4	121601	broad.mit.edu	GRCh37	12	101520783	101520783	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs139827573		TCGA-06-0173-01	TCGA-06-0173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392979.3:c.2698C>T	p.Arg900Cys	p.R900C	ENST00000392979	NM_178826.3	900	Cgt/Tgt	0	T:0		1			T	R/C	uc010svm.1	protein_coding		CCDS66445.1			2803/2868									ovary(4)|skin(2)	6	c.(2803-2805)CGT>TGT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF28,Low_complexity_(Seg):seg	anoctamin 4			T:0.0002	ENSP00000376703		27/28	2.47E-05					4.54E-05			rs139827573,COSM2063073	27/28	.		ENST00000392977	Transcript				chloride channel complex	chloride channel activity	ENSG00000151572	g.chr12:101520783C>T	23837			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=ANO4_HUMAN&rb=923&re=955&var=R935C	NA	getma.org/?cm=var&var=hg19,12,101520783,C,T&fts=all	R935C	--	--	1				HNSCC(74;0.22)																														ANO4_uc001thw.2_Missense_Mutation_p.R900C|ANO4_uc001thx.2_Missense_Mutation_p.R935C|ANO4_uc001thy.2_Missense_Mutation_p.R455C	0,1			possibly_damaging(0.899)	p.R935C	NM_178826	NP_849148		deleterious(0.01)	0,1	ANO4_HUMAN	ANO4	HGNC	Q32M45	ANO4_HUMAN					27	3375	+			UPI0000577AB6	935			Extracellular (Potential).		SNV	ANO4,missense_variant,p.Arg900Cys,ENST00000392979,NM_178826.3,NM_001286616.1;ANO4,missense_variant,p.Arg935Cys,ENST00000392977,NM_001286615.1;ANO4,missense_variant,p.Arg455Cys,ENST00000299222,;ANO4,missense_variant,p.Arg455Cys,ENST00000550015,;	uc010svm.1	c.2803C>T	3013/3509	1	1			c.2803C>T						12	SNP	c.(2803-2805)CGT>TGT	10	10			ovary(4)|skin(2)	6	Broad	anoctamin 4			101520783		0.483	ENSG00000151572	685	g.chr12:101520783C>T		chloride channel complex	chloride channel activity							95.282753	KEEP	20	18	-1	27	32	20	18	-1	96.419771	27	32	0.376471	1	0	0	0	0	1	0	0	0	--	--	HNSCC(74;0.22)	0	T			ANO4_uc001thw.2_Missense_Mutation_p.R900C|ANO4_uc001thx.2_Missense_Mutation_p.R935C|ANO4_uc001thy.2_Missense_Mutation_p.R455C	36	GBM-06-0173-TP	p.R935C	C	AGAACTGGAACGTCTCCAGAA	NM_178826	NP_849148	101520783	Q32M45	ANO4_HUMAN	0			27	3375	+	T	T			Missense_Mutation	935			Extracellular (Potential).			
ANO4	0	broad.mit.edu	GRCh37	12	101295584	101295584	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-12-5301-01	TCGA-12-5301-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392977.3:c.21A>G	p.Gly7=	p.G7=	ENST00000392977	NM_001286615.1	7	ggA/ggG	0			1			G	G	uc010svm.1	protein_coding		CCDS66445.1			21/2868									ovary(4)|skin(2)	6	c.(19-21)GGA>GGG			hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF28	anoctamin 4				ENSP00000376703		28-Feb									COSM3398244,COSM3398245	28-Feb	.		ENST00000392977	Transcript				chloride channel complex	chloride channel activity	ENSG00000151572	g.chr12:101295584A>G	23837			LOW								--	--	1				HNSCC(74;0.22)																														ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Silent_p.G7G|ANO4_uc001thx.2_Silent_p.G7G	1,1				p.G7G	NM_178826	NP_849148			1,1	ANO4_HUMAN	ANO4	HGNC	Q32M45	ANO4_HUMAN					2	593	+			UPI0000577AB6	7			Extracellular (Potential).		SNV	ANO4,synonymous_variant,p.=,ENST00000392979,NM_178826.3,NM_001286616.1;ANO4,synonymous_variant,p.=,ENST00000392977,NM_001286615.1;ANO4,synonymous_variant,p.=,ENST00000538618,;ANO4,synonymous_variant,p.=,ENST00000546991,;ANO4,5_prime_UTR_variant,,ENST00000299222,;ANO4,downstream_gene_variant,,ENST00000551148,;ANO4,synonymous_variant,p.=,ENST00000549155,;	uc010svm.1	c.21A>G	231/3509	4	4			c.21A>G						12	SNP	c.(19-21)GGA>GGG	32	32			ovary(4)|skin(2)	6	Broad	anoctamin 4			101295584		0.522	ENSG00000151572	685	g.chr12:101295584A>G		chloride channel complex	chloride channel activity							322.441951	KEEP	46	55	-1	62	64	46	55	-1	322.796444	62	64	0.454545	1	0	0	0	0	0	0	1	0	--	--	HNSCC(74;0.22)	0	G			ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Silent_p.G7G|ANO4_uc001thx.2_Silent_p.G7G	131	GBM-12-5301-TP	p.G7G	A	GCTCTTCTGGAATCACTAATG	NM_178826	NP_849148	101295584	Q32M45	ANO4_HUMAN	0			2	593	+	G	G			Silent	7			Extracellular (Potential).			
ANO4	0	broad.mit.edu	GRCh37	12	101493475	101493475	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-26-6174-01	TCGA-26-6174-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392977.3:c.2126T>C	p.Leu709Pro	p.L709P	ENST00000392977	NM_001286615.1	709	cTc/cCc	0			1			C	L/P	uc010svm.1	protein_coding		CCDS66445.1			2126/2868									ovary(4)|skin(2)	6	c.(2125-2127)CTC>CCC			Pfam_domain:PF04547,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF28	anoctamin 4				ENSP00000376703		22/28									COSM3398248	22/28	.		ENST00000392977	Transcript				chloride channel complex	chloride channel activity	ENSG00000151572	g.chr12:101493475T>C	23837			MODERATE		2.62	medium	getma.org/?cm=msa&ty=f&p=ANO4_HUMAN&rb=339&re=922&var=L709P	NA	getma.org/?cm=var&var=hg19,12,101493475,T,C&fts=all	L709P	--	--	1				HNSCC(74;0.22)																														ANO4_uc001thw.2_Missense_Mutation_p.L674P|ANO4_uc001thx.2_Missense_Mutation_p.L709P|ANO4_uc001thy.2_Missense_Mutation_p.L229P	1			probably_damaging(1)	p.L709P	NM_178826	NP_849148		deleterious(0)	1	ANO4_HUMAN	ANO4	HGNC	Q32M45	ANO4_HUMAN					22	2698	+			UPI0000577AB6	709			Cytoplasmic (Potential).		SNV	ANO4,missense_variant,p.Leu674Pro,ENST00000392979,NM_178826.3,NM_001286616.1;ANO4,missense_variant,p.Leu709Pro,ENST00000392977,NM_001286615.1;ANO4,missense_variant,p.Leu229Pro,ENST00000299222,;ANO4,missense_variant,p.Leu229Pro,ENST00000550015,;	uc010svm.1	c.2126T>C	2336/3509	4	4			c.2126T>C						12	SNP	c.(2125-2127)CTC>CCC	47	47			ovary(4)|skin(2)	6	Broad	anoctamin 4			101493475		0.333	ENSG00000151572	685	g.chr12:101493475T>C		chloride channel complex	chloride channel activity							32.867969	KEEP	2	10	-1	24	30	2	10	-1	37.48487	24	30	0.206897	1	0	0	0	0	1	0	0	0	--	--	HNSCC(74;0.22)	0	C			ANO4_uc001thw.2_Missense_Mutation_p.L674P|ANO4_uc001thx.2_Missense_Mutation_p.L709P|ANO4_uc001thy.2_Missense_Mutation_p.L229P	188	GBM-26-6174-TP	p.L709P	T	GCCTATGGACTCTTCGATGAA	NM_178826	NP_849148	101493475	Q32M45	ANO4_HUMAN	0			22	2698	+	C	C			Missense_Mutation	709			Cytoplasmic (Potential).			
ANO4	0	broad.mit.edu	GRCh37	12	101480464	101480464	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-2519-01	TCGA-27-2519-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392977.3:c.1563C>T	p.Phe521=	p.F521=	ENST00000392977	NM_001286615.1	521	ttC/ttT	0			1			T	F	uc010svm.1	protein_coding		CCDS66445.1			1563/2868									ovary(4)|skin(2)	6	c.(1561-1563)TTC>TTT			Pfam_domain:PF04547,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF28,Transmembrane_helices:TMhelix	anoctamin 4				ENSP00000376703		17/28									COSM3398246	17/28	.		ENST00000392977	Transcript				chloride channel complex	chloride channel activity	ENSG00000151572	g.chr12:101480464C>T	23837			LOW								--	--	1				HNSCC(74;0.22)																														ANO4_uc001thw.2_Silent_p.F486F|ANO4_uc001thx.2_Silent_p.F521F|ANO4_uc001thy.2_Silent_p.F41F	1				p.F521F	NM_178826	NP_849148			1	ANO4_HUMAN	ANO4	HGNC	Q32M45	ANO4_HUMAN					17	2135	+			UPI0000577AB6	521			Helical; (Potential).		SNV	ANO4,synonymous_variant,p.=,ENST00000392979,NM_178826.3,NM_001286616.1;ANO4,synonymous_variant,p.=,ENST00000392977,NM_001286615.1;ANO4,synonymous_variant,p.=,ENST00000299222,;ANO4,synonymous_variant,p.=,ENST00000550015,;ANO4,non_coding_transcript_exon_variant,,ENST00000548940,;	uc010svm.1	c.1563C>T	1773/3509	2	2			c.1563C>T						12	SNP	c.(1561-1563)TTC>TTT	21	21			ovary(4)|skin(2)	6	Broad	anoctamin 4			101480464		0.517	ENSG00000151572	685	g.chr12:101480464C>T		chloride channel complex	chloride channel activity							515.638843	KEEP	115	115	-1	264	216	115	115	-1	532.281198	264	216	0.318021	1	0	0	0	0	0	0	1	0	--	--	HNSCC(74;0.22)	0	T			ANO4_uc001thw.2_Silent_p.F486F|ANO4_uc001thx.2_Silent_p.F521F|ANO4_uc001thy.2_Silent_p.F41F	199	GBM-27-2519-TP	p.F521F	C	CTGCCGTGTTCGGGATCGTCA	NM_178826	NP_849148	101480464	Q32M45	ANO4_HUMAN	0			17	2135	+	T	T			Silent	521			Helical; (Potential).			
ANO4	0	broad.mit.edu	GRCh37	12	101480543	101480543	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01	TCGA-32-4208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392977.3:c.1642G>C	p.Val548Leu	p.V548L	ENST00000392977	NM_001286615.1	548	Gtt/Ctt	0			1			C	V/L	uc010svm.1	protein_coding		CCDS66445.1			1642/2868									ovary(4)|skin(2)	6	c.(1642-1644)GTT>CTT			Pfam_domain:PF04547,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF28,Transmembrane_helices:TMhelix	anoctamin 4				ENSP00000376703		17/28									COSM3398247	17/28	.		ENST00000392977	Transcript				chloride channel complex	chloride channel activity	ENSG00000151572	g.chr12:101480543G>C	23837			MODERATE		-0.51	neutral	getma.org/?cm=msa&ty=f&p=ANO4_HUMAN&rb=339&re=922&var=V548L	NA	getma.org/?cm=var&var=hg19,12,101480543,G,C&fts=all	V548L	--	--	1				HNSCC(74;0.22)																														ANO4_uc001thw.2_Missense_Mutation_p.V513L|ANO4_uc001thx.2_Missense_Mutation_p.V548L|ANO4_uc001thy.2_Missense_Mutation_p.V68L	1			benign(0.048)	p.V548L	NM_178826	NP_849148		tolerated(1)	1	ANO4_HUMAN	ANO4	HGNC	Q32M45	ANO4_HUMAN					17	2214	+			UPI0000577AB6	548			Helical; (Potential).		SNV	ANO4,missense_variant,p.Val513Leu,ENST00000392979,NM_178826.3,NM_001286616.1;ANO4,missense_variant,p.Val548Leu,ENST00000392977,NM_001286615.1;ANO4,missense_variant,p.Val68Leu,ENST00000299222,;ANO4,missense_variant,p.Val68Leu,ENST00000550015,;ANO4,non_coding_transcript_exon_variant,,ENST00000548940,;	uc010svm.1	c.1642G>C	1852/3509	3	3			c.1642G>C						12	SNP	c.(1642-1644)GTT>CTT	58	58			ovary(4)|skin(2)	6	Broad	anoctamin 4			101480543		0.493	ENSG00000151572	685	g.chr12:101480543G>C		chloride channel complex	chloride channel activity							-7.67687	KEEP	7	11	-1	110	126	7	11	-1	40.194611	110	126	0.0625	1	0	0	0	0	1	0	0	0	--	--	HNSCC(74;0.22)	0	C			ANO4_uc001thw.2_Missense_Mutation_p.V513L|ANO4_uc001thx.2_Missense_Mutation_p.V548L|ANO4_uc001thy.2_Missense_Mutation_p.V68L	243	GBM-32-4208-TP	p.V548L	G	TAACTCTCAGGTTGCAACCAC	NM_178826	NP_849148	101480543	Q32M45	ANO4_HUMAN	0			17	2214	+	C	C			Missense_Mutation	548			Helical; (Potential).			
ANO4	0	broad.mit.edu	GRCh37	12	101520784	101520784	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs143188971	byFrequency	TCGA-41-2572-01	TCGA-41-2572-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392977.3:c.2804G>A	p.Arg935His	p.R935H	ENST00000392977	NM_001286615.1	935	cGt/cAt	0	A:0.0007		1			A	R/H	uc010svm.1	protein_coding		CCDS66445.1			2804/2868									ovary(4)|skin(2)	6	c.(2803-2805)CGT>CAT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF28,Low_complexity_(Seg):seg	anoctamin 4			A:0.0003	ENSP00000376703		27/28	5.77E-05	0.000196				7.58E-05			rs143188971,COSM3398249	27/28	.		ENST00000392977	Transcript				chloride channel complex	chloride channel activity	ENSG00000151572	g.chr12:101520784G>A	23837			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=ANO4_HUMAN&rb=923&re=955&var=R935H	NA	getma.org/?cm=var&var=hg19,12,101520784,G,A&fts=all	R935H	--	--	1				HNSCC(74;0.22)																														ANO4_uc001thw.2_Missense_Mutation_p.R900H|ANO4_uc001thx.2_Missense_Mutation_p.R935H|ANO4_uc001thy.2_Missense_Mutation_p.R455H	0,1			benign(0.006)	p.R935H	NM_178826	NP_849148		tolerated(0.44)	0,1	ANO4_HUMAN	ANO4	HGNC	Q32M45	ANO4_HUMAN					27	3376	+			UPI0000577AB6	935			Extracellular (Potential).		SNV	ANO4,missense_variant,p.Arg900His,ENST00000392979,NM_178826.3,NM_001286616.1;ANO4,missense_variant,p.Arg935His,ENST00000392977,NM_001286615.1;ANO4,missense_variant,p.Arg455His,ENST00000299222,;ANO4,missense_variant,p.Arg455His,ENST00000550015,;	uc010svm.1	c.2804G>A	3014/3509	2	2			c.2804G>A						12	SNP	c.(2803-2805)CGT>CAT	17	17			ovary(4)|skin(2)	6	Broad	anoctamin 4			101520784		0.483	ENSG00000151572	685	g.chr12:101520784G>A		chloride channel complex	chloride channel activity							56.913069	KEEP	8	14	-1	14	26	8	14	-1	58.017557	14	26	0.350877	1	0	0	0	0	1	0	0	0	--	--	HNSCC(74;0.22)	0	A			ANO4_uc001thw.2_Missense_Mutation_p.R900H|ANO4_uc001thx.2_Missense_Mutation_p.R935H|ANO4_uc001thy.2_Missense_Mutation_p.R455H	251	GBM-41-2572-TP	p.R935H	G	GAACTGGAACGTCTCCAGAAG	NM_178826	NP_849148	101520784	Q32M45	ANO4_HUMAN	0			27	3376	+	A	A			Missense_Mutation	935			Extracellular (Potential).			
ANO5	203859	broad.mit.edu	GRCh37	11	22291884	22291884	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01	TCGA-06-0158-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324559.8:c.1925G>A	p.Arg642Gln	p.R642Q	ENST00000324559	NM_001142649.1	642	cGa/cAa	0		A:0	1	A:0.0014		A	R/Q	uc001mqi.2	protein_coding	YES	CCDS31444.1			1925/2742									central_nervous_system(3)|ovary(1)	4	c.(1924-1926)CGA>CAA			hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF23,Pfam_domain:PF04547	anoctamin 5 isoform a		A:0		ENSP00000315371	A:0	18/22	2.47E-05		8.64E-05			3.00E-05			rs199532484,COSM1353229	18/22	.		ENST00000324559	Transcript	1	A:0.0002		chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	ENSG00000171714	g.chr11:22291884G>A	27337			MODERATE		2.615	medium	getma.org/?cm=msa&ty=f&p=ANO5_HUMAN&rb=292&re=870&var=R642Q	NA	getma.org/?cm=var&var=hg19,11,22291884,G,A&fts=all	R642Q	--	--	1																																		ANO5_uc001mqj.2_Missense_Mutation_p.R641Q	0,1	1		possibly_damaging(0.893)	p.R642Q	NM_213599	NP_998764	A:0	deleterious(0.03)	0,1	ANO5_HUMAN	ANO5	HGNC	Q75V66	ANO5_HUMAN					18	2242	+			UPI000035B19B	642			Extracellular (Potential).		SNV	ANO5,missense_variant,p.Arg642Gln,ENST00000324559,NM_001142649.1,NM_213599.2;ANO5,upstream_gene_variant,,ENST00000532043,;	uc001mqi.2	c.1925G>A	2242/6651	2	2			c.1925G>A						11	SNP	c.(1924-1926)CGA>CAA	29	29			central_nervous_system(3)|ovary(1)	4	Broad	anoctamin 5 isoform a			22291884		0.413	ENSG00000171714	686	g.chr11:22291884G>A		chloride channel complex|endoplasmic reticulum membrane	chloride channel activity							21.239865	KEEP	13	9	-1	75	71	13	9	-1	44.214249	75	71	0.11465	1	0	0	0	0	1	0	0	0	--	--		0	A			ANO5_uc001mqj.2_Missense_Mutation_p.R641Q	29	GBM-06-0158-TP	p.R642Q	G	TGGAGACGCCGAAAAGCTCGG	NM_213599	NP_998764	22291884	Q75V66	ANO5_HUMAN	0			18	2242	+	A	A			Missense_Mutation	642			Extracellular (Potential).			
ANO5	203859	broad.mit.edu	GRCh37	11	22239813	22239813	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0648-01	TCGA-06-0648-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324559.8:c.160T>G	p.Phe54Val	p.F54V	ENST00000324559	NM_001142649.1	54	Ttc/Gtc	0			1			G	F/V	uc001mqi.2	protein_coding	YES	CCDS31444.1			160/2742									central_nervous_system(3)|ovary(1)	4	c.(160-162)TTC>GTC			Low_complexity_(Seg):seg,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF23	anoctamin 5 isoform a				ENSP00000315371		22-Apr									COSM2151353	22-Apr	.		ENST00000324559	Transcript	1			chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	ENSG00000171714	g.chr11:22239813T>G	27337			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=ANO5_HUMAN&rb=1&re=200&var=F54V	NA	getma.org/?cm=var&var=hg19,11,22239813,T,G&fts=all	F54V	--	--	1																																		ANO5_uc001mqj.2_Missense_Mutation_p.F53V	1	1		probably_damaging(0.994)	p.F54V	NM_213599	NP_998764		tolerated(0.05)	1	ANO5_HUMAN	ANO5	HGNC	Q75V66	ANO5_HUMAN					4	477	+			UPI000035B19B	54			Cytoplasmic (Potential).		SNV	ANO5,missense_variant,p.Phe54Val,ENST00000324559,NM_001142649.1,NM_213599.2;	uc001mqi.2	c.160T>G	477/6651	4	4			c.160T>G						11	SNP	c.(160-162)TTC>GTC	32	32			central_nervous_system(3)|ovary(1)	4	Broad	anoctamin 5 isoform a			22239813		0.403	ENSG00000171714	686	g.chr11:22239813T>G		chloride channel complex|endoplasmic reticulum membrane	chloride channel activity							164.63302	KEEP	34	32	-1	48	45	34	32	-1	166.087825	48	45	0.385827	1	0	0	0	0	1	0	0	0	--	--		0	G			ANO5_uc001mqj.2_Missense_Mutation_p.F53V	61	GBM-06-0648-TP	p.F54V	T	ATTCAATTTGTTCCTGAGGCG	NM_213599	NP_998764	22239813	Q75V66	ANO5_HUMAN	0			4	477	+	G	G			Missense_Mutation	54			Cytoplasmic (Potential).			
ANO5	0	broad.mit.edu	GRCh37	11	22296134	22296134	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6282-01	TCGA-76-6282-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324559.8:c.2255C>T	p.Thr752Met	p.T752M	ENST00000324559	NM_001142649.1	752	aCg/aTg	0	T:0		1			T	T/M	uc001mqi.2	protein_coding	YES	CCDS31444.1			2255/2742									central_nervous_system(3)|ovary(1)	4	c.(2254-2256)ACG>ATG			Transmembrane_helices:TMhelix,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF23,Pfam_domain:PF04547	anoctamin 5 isoform a			T:0.0001	ENSP00000315371		20/22	2.47E-05					4.52E-05			rs373471188,COSM3397617	20/22	.		ENST00000324559	Transcript	1			chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	ENSG00000171714	g.chr11:22296134C>T	27337			MODERATE		3.705	high	getma.org/?cm=msa&ty=f&p=ANO5_HUMAN&rb=292&re=870&var=T752M	NA	getma.org/?cm=var&var=hg19,11,22296134,C,T&fts=all	T752M	--	--	1																																		ANO5_uc001mqj.2_Missense_Mutation_p.T751M	0,1	1		probably_damaging(0.991)	p.T752M	NM_213599	NP_998764		deleterious(0)	0,1	ANO5_HUMAN	ANO5	HGNC	Q75V66	ANO5_HUMAN					20	2572	+			UPI000035B19B	752			Helical; (Potential).		SNV	ANO5,missense_variant,p.Thr752Met,ENST00000324559,NM_001142649.1,NM_213599.2;ANO5,non_coding_transcript_exon_variant,,ENST00000532043,;	uc001mqi.2	c.2255C>T	2572/6651	2	2			c.2255C>T						11	SNP	c.(2254-2256)ACG>ATG	25	25			central_nervous_system(3)|ovary(1)	4	Broad	anoctamin 5 isoform a			22296134		0.363	ENSG00000171714	686	g.chr11:22296134C>T		chloride channel complex|endoplasmic reticulum membrane	chloride channel activity							43.833271	KEEP	10	13	-1	45	53	10	13	-1	53.639191	45	53	0.190909	1	0	0	0	0	1	0	0	0	--	--		0	T			ANO5_uc001mqj.2_Missense_Mutation_p.T751M	278	GBM-76-6282-TP	p.T752M	C	GTTGCATTTACGTCAGACATC	NM_213599	NP_998764	22296134	Q75V66	ANO5_HUMAN	0			20	2572	+	T	T			Missense_Mutation	752			Helical; (Potential).			
ANO6	0	broad.mit.edu	GRCh37	12	45823037	45823037	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-5133-01	TCGA-26-5133-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320560.8:c.2676G>A	p.Val892=	p.V892=	ENST00000320560	NM_001025356.2	892	gtG/gtA	0			1			A	V	uc001roo.2	protein_coding		CCDS31782.1			2676/2733									ovary(1)|kidney(1)	2	c.(2674-2676)GTG>GTA			hmmpanther:PTHR12308:SF21,hmmpanther:PTHR12308	anoctamin 6 isoform a				ENSP00000320087		20/20									COSM3398728	20/20	.		ENST00000320560	Transcript	1		activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	ENSG00000177119	g.chr12:45823037G>A	25240			LOW								--	--	1																																		ANO6_uc010sld.1_Intron|ANO6_uc010sle.1_Intron|ANO6_uc010slf.1_Silent_p.V913V|ANO6_uc010slg.1_Silent_p.V874V	1				p.V892V	NM_001025356	NP_001020527			1	ANO6_HUMAN	ANO6	HGNC	Q4KMQ2	ANO6_HUMAN					20	3011	+			UPI0000229358	892			Cytoplasmic (Potential).		SNV	ANO6,synonymous_variant,p.=,ENST00000320560,NM_001025356.2;ANO6,synonymous_variant,p.=,ENST00000441606,NM_001142678.1;ANO6,synonymous_variant,p.=,ENST00000423947,NM_001204803.1;ANO6,intron_variant,,ENST00000425752,NM_001142679.1;ANO6,intron_variant,,ENST00000435642,;	uc001roo.2	c.2676G>A	2878/5975	2	2			c.2676G>A						12	SNP	c.(2674-2676)GTG>GTA	25	25			ovary(1)|kidney(1)	2	Broad	anoctamin 6 isoform a			45823037		0.373	ENSG00000177119	687	g.chr12:45823037G>A	activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity							3.365359	KEEP	5	3	-1	38	43	5	3	-1	16.098612	38	43	0.092105	1	0	0	0	0	0	0	1	0	--	--		0	A			ANO6_uc010sld.1_Intron|ANO6_uc010sle.1_Intron|ANO6_uc010slf.1_Silent_p.V913V|ANO6_uc010slg.1_Silent_p.V874V	182	GBM-26-5133-TP	p.V892V	G	ATATGGGGGTGATAGCTGAGC	NM_001025356	NP_001020527	45823037	Q4KMQ2	ANO6_HUMAN	0			20	3011	+	A	A			Silent	892			Cytoplasmic (Potential).			
ANO7	50636	broad.mit.edu	GRCh37	2	242151595	242151595	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs111600763	byFrequency;by1000genomes	TCGA-06-0132-01	TCGA-06-0132-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274979.8:c.1810G>A	p.Val604Ile	p.V604I	ENST00000274979	NM_001001891.3	604	Gtc/Atc	0	A:0.0207	A:0.0197	1	A:0		A	V/I	uc002wax.2	protein_coding	YES	CCDS33423.1			1810/2802									pancreas(2)|central_nervous_system(1)	3	c.(1810-1812)GTC>ATC			Transmembrane_helices:TMhelix,hmmpanther:PTHR12308:SF22,hmmpanther:PTHR12308,Pfam_domain:PF04547	transmembrane protein 16G isoform NGEP long		A:0	A:0.0001	ENSP00000274979	A:0	16/25	0.00213	0.0234	0.000519			0.00012	0.00111	6.06E-05	rs111600763,COSM3407752,COSM3407753	16/25	common_variant		ENST00000274979	Transcript		A:0.0052		cell junction|chloride channel complex|cytosol	chloride channel activity	ENSG00000146205	g.chr2:242151595G>A	31677			MODERATE		-0.695	neutral	getma.org/?cm=msa&ty=f&p=ANO7_HUMAN&rb=335&re=888&var=V604I	NA	getma.org/?cm=var&var=hg19,2,242151595,G,A&fts=all	V604I	--	--	1																																			0,1,1	1		benign(0.004)	p.V604I	NM_001001891	NP_001001891	A:0	tolerated(0.95)	0,1,1	ANO7_HUMAN	ANO7	HGNC	Q6IWH7	ANO7_HUMAN					16	1913	+			UPI0000D612DB	604			Helical; (Potential).		SNV	ANO7,missense_variant,p.Val604Ile,ENST00000274979,NM_001001891.3;ANO7,missense_variant,p.Val603Ile,ENST00000402430,;ANO7,non_coding_transcript_exon_variant,,ENST00000471606,;	uc002wax.2	c.1810G>A	1913/4128	1	1			c.1810G>A						2	SNP	c.(1810-1812)GTC>ATC	55	55			pancreas(2)|central_nervous_system(1)	3	Broad	transmembrane protein 16G isoform NGEP long			242151595		0.562	ENSG00000146205	688	g.chr2:242151595G>A		cell junction|chloride channel complex|cytosol	chloride channel activity							-5.392028	KEEP	7	5	-1	74	92	7	5	-1	21.885672	74	92	0.07483	1	0	0	0	0	1	0	0	0	--	--		0	A				17	GBM-06-0132-TP	p.V604I	G	CTCCTCACCCGTCTACATTGC	NM_001001891	NP_001001891	242151595	Q6IWH7	ANO7_HUMAN	0			16	1913	+	A	A			Missense_Mutation	604			Helical; (Potential).			
ANO7	0	broad.mit.edu	GRCh37	2	242149970	242149970	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs148576854		TCGA-14-1823-01	TCGA-14-1823-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274979.8:c.1708G>A	p.Val570Ile	p.V570I	ENST00000274979	NM_001001891.3	570	Gtc/Atc	0	A:0.0002		1			A	V/I	uc002wax.2	protein_coding	YES	CCDS33423.1			1708/2802									pancreas(2)|central_nervous_system(1)	3	c.(1708-1710)GTC>ATC			hmmpanther:PTHR12308:SF22,hmmpanther:PTHR12308,Pfam_domain:PF04547	transmembrane protein 16G isoform NGEP long			A:0	ENSP00000274979		15/25	1.65E-05	0.000193							rs148576854,COSM3407750,COSM3407751	15/25	.		ENST00000274979	Transcript				cell junction|chloride channel complex|cytosol	chloride channel activity	ENSG00000146205	g.chr2:242149970G>A	31677			MODERATE		1.285	low	getma.org/?cm=msa&ty=f&p=ANO7_HUMAN&rb=335&re=888&var=V570I	NA	getma.org/?cm=var&var=hg19,2,242149970,G,A&fts=all	V570I	--	--	1																																			0,1,1	1		benign(0.013)	p.V570I	NM_001001891	NP_001001891		tolerated(0.49)	0,1,1	ANO7_HUMAN	ANO7	HGNC	Q6IWH7	ANO7_HUMAN					15	1811	+			UPI0000D612DB	570			Helical; (Potential).		SNV	ANO7,missense_variant,p.Val570Ile,ENST00000274979,NM_001001891.3;ANO7,missense_variant,p.Val569Ile,ENST00000402430,;ANO7,upstream_gene_variant,,ENST00000471606,;	uc002wax.2	c.1708G>A	1811/4128	1	1			c.1708G>A						2	SNP	c.(1708-1710)GTC>ATC	62	62			pancreas(2)|central_nervous_system(1)	3	Broad	transmembrane protein 16G isoform NGEP long			242149970		0.622	ENSG00000146205	688	g.chr2:242149970G>A		cell junction|chloride channel complex|cytosol	chloride channel activity							65.57924	KEEP	13	17	-1	46	33	13	17	-1	70.190697	46	33	0.272727	1	0	0	0	0	1	0	0	0	--	--		0	A				147	GBM-14-1823-TP	p.V570I	G	CCTGGCCCACGTCCTGACACG	NM_001001891	NP_001001891	242149970	Q6IWH7	ANO7_HUMAN	0			15	1811	+	A	A			Missense_Mutation	570			Helical; (Potential).			
ANO8	57719		GRCh37	19	17436028	17436028	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000159087.4:c.2829C>T	p.Ser943=	p.S943=	ENST00000159087	NM_020959.2	943	tcC/tcT	0																																																																																																																																																																																																																																												
ANO9	338440	broad.mit.edu	GRCh37	11	420522	420522	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0169-01	TCGA-06-0169-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332826.6:c.1727A>G	p.Asp576Gly	p.D576G	ENST00000332826	NM_001012302.2	576	gAc/gGc	0			1			C	D/G	uc001lpi.2	protein_coding	YES	CCDS31326.1			1727/2349									central_nervous_system(2)|ovary(1)|skin(1)	4	c.(1726-1728)GAC>GGC			Pfam_domain:PF04547,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF27	tumor protein p53 inducible protein 5				ENSP00000332788		19/23									COSM3397674	19/23	.		ENST00000332826	Transcript				chloride channel complex	chloride channel activity	ENSG00000185101	g.chr11:420522T>C	20679			MODERATE		3.295	medium	getma.org/?cm=msa&ty=f&p=ANO9_HUMAN&rb=179&re=740&var=D576G	NA	getma.org/?cm=var&var=hg19,11,420522,T,C&fts=all	D576G	--	--	1																																		ANO9_uc001lph.2_Missense_Mutation_p.D269G|ANO9_uc010qvv.1_Missense_Mutation_p.D432G	1	1		probably_damaging(0.964)	p.D576G	NM_001012302	NP_001012302		deleterious(0)	1	ANO9_HUMAN	ANO9	HGNC	A1A5B4	ANO9_HUMAN					19	1812	-			UPI00001D782B	576			Cytoplasmic (Potential).		SNV	ANO9,missense_variant,p.Asp576Gly,ENST00000332826,NM_001012302.2;SIGIRR,upstream_gene_variant,,ENST00000382520,;SIGIRR,upstream_gene_variant,,ENST00000332725,NM_001135053.1,NM_021805.2;SIGIRR,upstream_gene_variant,,ENST00000397632,;ANO9,non_coding_transcript_exon_variant,,ENST00000532094,;ANO9,non_coding_transcript_exon_variant,,ENST00000526142,;ANO9,non_coding_transcript_exon_variant,,ENST00000528927,;ANO9,non_coding_transcript_exon_variant,,ENST00000534161,;SIGIRR,upstream_gene_variant,,ENST00000527295,;ANO9,upstream_gene_variant,,ENST00000524802,;ANO9,downstream_gene_variant,,ENST00000525804,;	uc001lpi.2	c.1727A>G	1812/2542	3	3			c.1727A>G						11	SNP	c.(1726-1728)GAC>GGC	59	59			central_nervous_system(2)|ovary(1)|skin(1)	4	Broad	tumor protein p53 inducible protein 5			420522		0.687	ENSG00000185101	690	g.chr11:420522T>C		chloride channel complex	chloride channel activity							1.500026	KEEP	2	2	-1	19	17	2	2	-1	6.560807	19	17	0.096774	1	0	0	0	0	1	0	0	0	--	--		0	C			ANO9_uc001lph.2_Missense_Mutation_p.D269G|ANO9_uc010qvv.1_Missense_Mutation_p.D432G	34	GBM-06-0169-TP	p.D576G	T	CTTGATGGCGTCCAGGCGGAT	NM_001012302	NP_001012302	420522	A1A5B4	ANO9_HUMAN	0			19	1812	-	C	C			Missense_Mutation	576			Cytoplasmic (Potential).			
ANO9	338440	broad.mit.edu	GRCh37	11	420528	420528	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5411-01	TCGA-06-5411-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332826.6:c.1721G>A	p.Arg574His	p.R574H	ENST00000332826	NM_001012302.2	574	cGc/cAc	0			1			T	R/H	uc001lpi.2	protein_coding	YES	CCDS31326.1			1721/2349									central_nervous_system(2)|ovary(1)|skin(1)	4	c.(1720-1722)CGC>CAC			Pfam_domain:PF04547,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF27	tumor protein p53 inducible protein 5				ENSP00000332788		19/23									COSM2153157	19/23	.		ENST00000332826	Transcript				chloride channel complex	chloride channel activity	ENSG00000185101	g.chr11:420528C>T	20679			MODERATE		3.09	medium	getma.org/?cm=msa&ty=f&p=ANO9_HUMAN&rb=179&re=740&var=R574H	NA	getma.org/?cm=var&var=hg19,11,420528,C,T&fts=all	R574H	--	--	1																																		ANO9_uc001lph.2_Missense_Mutation_p.R267H|ANO9_uc010qvv.1_Missense_Mutation_p.R430H	1	1		probably_damaging(0.976)	p.R574H	NM_001012302	NP_001012302		tolerated(0.1)	1	ANO9_HUMAN	ANO9	HGNC	A1A5B4	ANO9_HUMAN					19	1806	-			UPI00001D782B	574			Cytoplasmic (Potential).		SNV	ANO9,missense_variant,p.Arg574His,ENST00000332826,NM_001012302.2;SIGIRR,upstream_gene_variant,,ENST00000382520,;SIGIRR,upstream_gene_variant,,ENST00000332725,NM_001135053.1,NM_021805.2;SIGIRR,upstream_gene_variant,,ENST00000397632,;ANO9,non_coding_transcript_exon_variant,,ENST00000532094,;ANO9,non_coding_transcript_exon_variant,,ENST00000526142,;ANO9,non_coding_transcript_exon_variant,,ENST00000528927,;ANO9,non_coding_transcript_exon_variant,,ENST00000534161,;SIGIRR,upstream_gene_variant,,ENST00000527295,;ANO9,upstream_gene_variant,,ENST00000524802,;ANO9,downstream_gene_variant,,ENST00000525804,;	uc001lpi.2	c.1721G>A	1806/2542	2	2			c.1721G>A						11	SNP	c.(1720-1722)CGC>CAC	43	43			central_nervous_system(2)|ovary(1)|skin(1)	4	Broad	tumor protein p53 inducible protein 5			420528		0.682	ENSG00000185101	690	g.chr11:420528C>T		chloride channel complex	chloride channel activity							27.008763	KEEP	2	11	-1	15	19	2	11	-1	28.99565	15	19	0.268293	1	0	0	0	0	1	0	0	0	--	--		0	T			ANO9_uc001lph.2_Missense_Mutation_p.R267H|ANO9_uc010qvv.1_Missense_Mutation_p.R430H	94	GBM-06-5411-TP	p.R574H	C	GGCGTCCAGGCGGATCTCCAC	NM_001012302	NP_001012302	420528	A1A5B4	ANO9_HUMAN	0			19	1806	-	T	T			Missense_Mutation	574			Cytoplasmic (Potential).			
ANO9	0	broad.mit.edu	GRCh37	11	433453	433453	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332826.6:c.211C>T	p.Arg71Trp	p.R71W	ENST00000332826	NM_001012302.2	71	Cgg/Tgg	0			1			A	R/W	uc001lpi.2	protein_coding	YES	CCDS31326.1			211/2349									central_nervous_system(2)|ovary(1)|skin(1)	4	c.(211-213)CGG>TGG			hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF27	tumor protein p53 inducible protein 5				ENSP00000332788		23-Apr	1.65E-05					1.52E-05		6.06E-05	rs775078390,COSM3397675	23-Apr	.		ENST00000332826	Transcript				chloride channel complex	chloride channel activity	ENSG00000185101	g.chr11:433453G>A	20679			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=ANO9_HUMAN&rb=1&re=178&var=R71W	NA	getma.org/?cm=var&var=hg19,11,433453,G,A&fts=all	R71W	--	--	1																																		ANO9_uc010qvv.1_5'UTR	0,1	1		possibly_damaging(0.517)	p.R71W	NM_001012302	NP_001012302		deleterious(0)	0,1	ANO9_HUMAN	ANO9	HGNC	A1A5B4	ANO9_HUMAN					4	296	-			UPI00001D782B	71			Cytoplasmic (Potential).		SNV	ANO9,missense_variant,p.Arg71Trp,ENST00000332826,NM_001012302.2;ANO9,non_coding_transcript_exon_variant,,ENST00000532094,;ANO9,non_coding_transcript_exon_variant,,ENST00000528927,;ANO9,upstream_gene_variant,,ENST00000526142,;ANO9,upstream_gene_variant,,ENST00000534161,;ANO9,upstream_gene_variant,,ENST00000525857,;	uc001lpi.2	c.211C>T	296/2542	2	2			c.211C>T						11	SNP	c.(211-213)CGG>TGG	45	45			central_nervous_system(2)|ovary(1)|skin(1)	4	Broad	tumor protein p53 inducible protein 5			433453		0.612	ENSG00000185101	690	g.chr11:433453G>A		chloride channel complex	chloride channel activity							28.023676	KEEP	1	14	-1	34	48	1	14	-1	36.909457	34	48	0.160494	1	0	0	0	0	1	0	0	0	--	--		0	A			ANO9_uc010qvv.1_5'UTR	240	GBM-32-2632-TP	p.R71W	G	TTCTGGTCCCGGATCACCTGG	NM_001012302	NP_001012302	433453	A1A5B4	ANO9_HUMAN	0			4	296	-	A	A			Missense_Mutation	71			Cytoplasmic (Potential).			
ANO9	338440		GRCh37	11	419726	419726	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000332826.6:c.1790C>A	p.Thr597Asn	p.T597N	ENST00000332826	NM_001012302.2	597	aCc/aAc	0																																																																																																																																																																																																																																												
ANP32C	23520	broad.mit.edu	GRCh37	4	165118645	165118645	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A			TCGA-06-0173-01	TCGA-06-0173-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000512835.1:n.219A>T		p.*73*	ENST00000512835				0			1			A		uc011cjk.1	protein_coding	YES	CCDS54814.1			-/870										0	c.(217-219)TCA>TCT				acidic nuclear phosphoprotein 32C				ENSP00000427223											COSM3409150		.		ENST00000503008	Transcript						ENSG00000145416	g.chr4:165118645T>A	26077			MODIFIER	7-Jan							--	--	1																																		MARCH1_uc003iqs.1_Intron	1	1			p.S73S	NM_012403	NP_036535			1	MARH1_HUMAN	1-Mar	HGNC	O43423	AN32C_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.242)	D6REN1_HUMAN		1	219	-	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)	UPI0000037BB3	73			LRR 2.		SNV	MARCH1,intron_variant,,ENST00000503008,NM_001166373.1;MARCH1,intron_variant,,ENST00000514618,;MARCH1,intron_variant,,ENST00000507270,;MARCH1,intron_variant,,ENST00000508725,;MARCH1,intron_variant,,ENST00000515471,;MARCH1,intron_variant,,ENST00000510075,;MARCH1,intron_variant,,ENST00000505391,;ANP32C,non_coding_transcript_exon_variant,,ENST00000512835,;	uc011cjk.1	c.219A>T	-/5877	2	2			c.219A>T						4	SNP	c.(217-219)TCA>TCT	48	48				0	Broad	acidic nuclear phosphoprotein 32C			165118645		0.403	ENSG00000145416	693	g.chr4:165118645T>A										306.073229	KEEP	54	57	-1	91	70	54	57	-1	308.954308	91	70	0.384615	1	0	0	0	0	0	0	1	0	--	--		0	A			MARCH1_uc003iqs.1_Intron	36	GBM-06-0173-TP	p.S73S	T	CCAGGCCCCCTGAGACTCTTA	NM_012403	NP_036535	165118645	O43423	AN32C_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(143;0.242)	1	219	-	A	A	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)	Silent	73			LRR 2.			
ANP32C	23520		GRCh37	4	165118560	165118560	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000512835.1:n.304A>G		p.*102*	ENST00000512835				0																																																																																																																																																																																																																																												
ANP32D	0	broad.mit.edu	GRCh37	12	48866783	48866783	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-27-2528-01	TCGA-27-2528-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266594.1:c.336A>C	p.Leu112Phe	p.L112F	ENST00000266594	NM_012404.2	112	ttA/ttC	0			1			C	L/F	uc010slt.1	protein_coding	YES	CCDS31788.1			336/396								p.L112_E113>*(1)	ovary(1)|central_nervous_system(1)	2	c.(334-336)TTA>TTC			Gene3D:3.80.10.10,Pfam_domain:PF13855,hmmpanther:PTHR11375,hmmpanther:PTHR11375:SF1,Superfamily_domains:SSF52058	acidic nuclear phosphoprotein 32D				ENSP00000266594		1-Jan									COSM3398748	1-Jan	.		ENST00000266594	Transcript						ENSG00000139223	g.chr12:48866783A>C	16676			MODERATE		1.585	low	getma.org/?cm=msa&ty=f&p=AN32D_HUMAN&rb=64&re=125&var=L112F	getma.org/pdb.php?prot=AN32D_HUMAN&from=64&to=125&var=L112F	getma.org/?cm=var&var=hg19,12,48866783,A,C&fts=all	L112F	--	--	1																																			1	1		probably_damaging(0.918)	p.L112F	NM_012404	NP_036536		tolerated(0.14)	1	AN32D_HUMAN	ANP32D	HGNC	O95626	AN32D_HUMAN					1	336	+			UPI000013D6FE	112					SNV	ANP32D,missense_variant,p.Leu112Phe,ENST00000266594,NM_012404.2;	uc010slt.1	c.336A>C	336/396	3	3			c.336A>C						12	SNP	c.(334-336)TTA>TTC	49	49		p.L112_E113>*(1)	ovary(1)|central_nervous_system(1)	2	Broad	acidic nuclear phosphoprotein 32D			48866783		0.408	ENSG00000139223	694	g.chr12:48866783A>C										143.623293	KEEP	26	23	-1	40	46	26	23	-1	145.798411	40	46	0.363636	1	0	0	0	0	1	0	0	0	--	--		0	C				205	GBM-27-2528-TP	p.L112F	A	TGAAAAAGTTAGAAAACCTCG	NM_012404	NP_036536	48866783	O95626	AN32D_HUMAN	0			1	336	+	C	C			Missense_Mutation	112						
ANP32E	81611	broad.mit.edu	GRCh37	1	150202934	150202934	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0648-01	TCGA-06-0648-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314136.8:c.299T>C	p.Ile100Thr	p.I100T	ENST00000314136	NM_001136478.3	100	aTa/aCa	0			1			G	I/T	uc001etw.2	protein_coding	YES	CCDS946.1			299/807										0	c.(298-300)ATA>ACA			PROSITE_profiles:PS51450,hmmpanther:PTHR11375:SF5,hmmpanther:PTHR11375,Pfam_domain:PF12799,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	acidic (leucine-rich) nuclear phosphoprotein 32				ENSP00000324074		7-Mar									COSM2151361	7-Mar	.		ENST00000314136	Transcript				cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity	ENSG00000143401	g.chr1:150202934A>G	16673			MODERATE		4.595	high	getma.org/?cm=msa&ty=f&p=AN32E_HUMAN&rb=88&re=133&var=I100T	getma.org/pdb.php?prot=AN32E_HUMAN&from=88&to=133&var=I100T	getma.org/?cm=var&var=hg19,1,150202934,A,G&fts=all	I100T	--	--	1																																		ANP32E_uc010pbu.1_Missense_Mutation_p.I52T|ANP32E_uc010pbv.1_Intron|ANP32E_uc001etv.3_Missense_Mutation_p.I100T|ANP32E_uc010pbw.1_Missense_Mutation_p.I100T	1	1		probably_damaging(0.998)	p.I100T	NM_030920	NP_112182		deleterious(0)	1	AN32E_HUMAN	ANP32E	HGNC	Q9BTT0	AN32E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		Q53F20_HUMAN		3	669	-	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		UPI0000071679	100			LRR 4.		SNV	ANP32E,missense_variant,p.Ile100Thr,ENST00000314136,NM_001136478.3,NM_030920.4,NM_001280559.1;ANP32E,missense_variant,p.Ile52Thr,ENST00000369119,NM_001136479.2;ANP32E,missense_variant,p.Ile100Thr,ENST00000369114,;ANP32E,missense_variant,p.Ile100Thr,ENST00000533654,NM_001280560.1;ANP32E,missense_variant,p.Ile50Thr,ENST00000532744,;ANP32E,intron_variant,,ENST00000369116,;ANP32E,intron_variant,,ENST00000436748,;ANP32E,intron_variant,,ENST00000369115,;ANP32E,intron_variant,,ENST00000534220,;ANP32E,upstream_gene_variant,,ENST00000534437,;	uc001etw.2	c.299T>C	669/3453	3	3			c.299T>C						1	SNP	c.(298-300)ATA>ACA	56	56				0	Broad	acidic (leucine-rich) nuclear phosphoprotein 32			150202934		0.363	ENSG00000143401	695	g.chr1:150202934A>G		cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity							237.161394	KEEP	30	39	-1	43	45	30	39	-1	237.637088	43	45	0.439189	1	0	0	0	0	1	0	0	0	--	--		0	G			ANP32E_uc010pbu.1_Missense_Mutation_p.I52T|ANP32E_uc010pbv.1_Intron|ANP32E_uc001etv.3_Missense_Mutation_p.I100T|ANP32E_uc010pbw.1_Missense_Mutation_p.I100T	61	GBM-06-0648-TP	p.I100T	A	GAGATCTTTTATTTTGTTTCC	NM_030920	NP_112182	150202934	Q9BTT0	AN32E_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.171)		3	669	-	G	G	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		Missense_Mutation	100			LRR 4.			
ANPEP	290	broad.mit.edu	GRCh37	15	90340926	90340926	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0190-01	TCGA-06-0190-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300060.6:c.2037G>A	p.Ala679=	p.A679=	ENST00000300060	NM_001150.2	679	gcG/gcA	0			1			T	A	uc002bop.3	protein_coding	YES	CCDS10356.1			2037/2904									ovary(3)|skin(1)	4	c.(2035-2037)GCG>GCA			Pfam_domain:PF11838,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF149	membrane alanine aminopeptidase precursor	Ezetimibe(DB00973)			ENSP00000300060		15/21	8.24E-06					1.50E-05			rs764127625,COSM3402005	15/21	.		ENST00000300060	Transcript			angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	ENSG00000166825	g.chr15:90340926C>T	500			LOW								--	--	1																																			0,1	1			p.A679A	NM_001150	NP_001141			0,1	AMPN_HUMAN	ANPEP	HGNC	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Q8IVL7_HUMAN,Q71E46_HUMAN,H0YM04_HUMAN,H0YKT6_HUMAN,B4DV63_HUMAN,B4DP96_HUMAN		15	2329	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		UPI00001AECCF	679			Extracellular.|Metalloprotease.		SNV	ANPEP,synonymous_variant,p.=,ENST00000300060,NM_001150.2;ANPEP,non_coding_transcript_exon_variant,,ENST00000558177,;ANPEP,3_prime_UTR_variant,,ENST00000560030,;ANPEP,non_coding_transcript_exon_variant,,ENST00000559761,;ANPEP,upstream_gene_variant,,ENST00000558740,;	uc002bop.3	c.2037G>A	2351/3678	1	1			c.2037G>A						15	SNP	c.(2035-2037)GCG>GCA	8	8			ovary(3)|skin(1)	4	Broad	membrane alanine aminopeptidase precursor		Ezetimibe(DB00973)	90340926		0.587	ENSG00000166825	696	g.chr15:90340926C>T	angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	NSCLC(30;827 977 2459 19669 26125)			NSCLC(30;827 977 2459 19669 26125)			58.929282	KEEP	18	21	-1	102	104	18	21	-1	84.538488	102	104	0.150685	1	0	0	0	0	0	0	1	0	--	--		0	T				43	GBM-06-0190-TP	p.A679A	C	TGTTGTTCAGCGCCAGAGTGA	NM_001150	NP_001141	90340926	P15144	AMPN_HUMAN	0	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		15	2329	-	T	T	Lung NSC(78;0.0221)|all_lung(78;0.0448)		Silent	679			Extracellular.|Metalloprotease.			
ANPEP	0	broad.mit.edu	GRCh37	15	90348339	90348339	+	stop_gained	Nonsense_Mutation	SNP	G	G	C			TCGA-12-5301-01	TCGA-12-5301-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300060.6:c.867C>G	p.Tyr289Ter	p.Y289*	ENST00000300060	NM_001150.2	289	taC/taG	0			1			C	Y/*	uc002bop.3	protein_coding	YES	CCDS10356.1			867/2904									ovary(3)|skin(1)	4	c.(865-867)TAC>TAG			Pfam_domain:PF01433,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF149	membrane alanine aminopeptidase precursor	Ezetimibe(DB00973)			ENSP00000300060		21-Apr									COSM3402006	21-Apr	.		ENST00000300060	Transcript			angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	ENSG00000166825	g.chr15:90348339G>C	500			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,15,90348339,G,C&fts=all	Y289*	--	--	1																																			1	1			p.Y289*	NM_001150	NP_001141			1	AMPN_HUMAN	ANPEP	HGNC	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Q8IVL7_HUMAN,Q71E46_HUMAN,H0YM04_HUMAN,H0YKT6_HUMAN,B4DV63_HUMAN,B4DP96_HUMAN		4	1159	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		UPI00001AECCF	289	DYVEKQAS->QSVEETAQ: No change in receptor activity and HCoV-229E infection.|DYVEKQAS->QSVNETAQ: Complete loss of receptor activity and blocks HCoV-229E infection. No loss of enzymatic activity.|DYVEKQAS->QSVNEQAQ: No change in receptor activity and HCoV-229E infection.		Extracellular.|Interaction with HCoV-229E.|Metalloprotease.		SNV	ANPEP,stop_gained,p.Tyr289Ter,ENST00000300060,NM_001150.2;ANPEP,downstream_gene_variant,,ENST00000559874,;ANPEP,downstream_gene_variant,,ENST00000560137,;ANPEP,upstream_gene_variant,,ENST00000558177,;ANPEP,stop_gained,p.Tyr54Ter,ENST00000560028,;ANPEP,upstream_gene_variant,,ENST00000560030,;ANPEP,upstream_gene_variant,,ENST00000559887,;	uc002bop.3	c.867C>G	1181/3678	5	4			c.867C>G						15	SNP	c.(865-867)TAC>TAG	35	35			ovary(3)|skin(1)	4	Broad	membrane alanine aminopeptidase precursor		Ezetimibe(DB00973)	90348339		0.567	ENSG00000166825	696	g.chr15:90348339G>C	angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	NSCLC(30;827 977 2459 19669 26125)			NSCLC(30;827 977 2459 19669 26125)			469.042195	KEEP	65	78	-1	71	80	65	78	-1	469.137344	71	80	0.480144	1	0	0	0	0	0	1	0	0	--	--		0	C				131	GBM-12-5301-TP	p.Y289*	G	GCTTCTCCACGTAGTCGAACT	NM_001150	NP_001141	90348339	P15144	AMPN_HUMAN	0	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		4	1159	-	C	C	Lung NSC(78;0.0221)|all_lung(78;0.0448)		Nonsense_Mutation	289	DYVEKQAS->QSVEETAQ: No change in receptor activity and HCoV-229E infection.|DYVEKQAS->QSVNETAQ: Complete loss of receptor activity and blocks HCoV-229E infection. No loss of enzymatic activity.|DYVEKQAS->QSVNEQAQ: No change in receptor activity and HCoV-229E infection.		Extracellular.|Interaction with HCoV-229E.|Metalloprotease.			
ANPEP	0	broad.mit.edu	GRCh37	15	90349552	90349552	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01	TCGA-26-1439-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300060.6:c.263C>T	p.Thr88Met	p.T88M	ENST00000300060	NM_001150.2	88	aCg/aTg	0			1			A	T/M	uc002bop.3	protein_coding	YES	CCDS10356.1			263/2904									ovary(3)|skin(1)	4	c.(262-264)ACG>ATG			Superfamily_domains:0038696,Pfam_domain:PF01433,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF149	membrane alanine aminopeptidase precursor	Ezetimibe(DB00973)			ENSP00000300060		21-Feb	4.12E-05	9.61E-05	0.000173			3.00E-05			rs569385341,COSM2156888	21-Feb	.		ENST00000300060	Transcript			angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	ENSG00000166825	g.chr15:90349552G>A	500			MODERATE		2.09	medium	getma.org/?cm=msa&ty=f&p=AMPN_HUMAN&rb=75&re=480&var=T88M	getma.org/pdb.php?prot=AMPN_HUMAN&from=75&to=480&var=T88M	getma.org/?cm=var&var=hg19,15,90349552,G,A&fts=all	T88M	--	--	1																																			0,1	1		benign(0.16)	p.T88M	NM_001150	NP_001141		tolerated(0.08)	0,1	AMPN_HUMAN	ANPEP	HGNC	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Q8IVL7_HUMAN,Q71E46_HUMAN,H0YM04_HUMAN,H0YKT6_HUMAN,B4DV63_HUMAN,B4DP96_HUMAN		2	555	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		UPI00001AECCF	88			Extracellular.|Metalloprotease.		SNV	ANPEP,missense_variant,p.Thr88Met,ENST00000300060,NM_001150.2;ANPEP,missense_variant,p.Thr88Met,ENST00000559874,;ANPEP,downstream_gene_variant,,ENST00000560137,;ANPEP,upstream_gene_variant,,ENST00000558177,;ANPEP,upstream_gene_variant,,ENST00000560030,;ANPEP,upstream_gene_variant,,ENST00000560028,;ANPEP,upstream_gene_variant,,ENST00000559887,;	uc002bop.3	c.263C>T	577/3678	2	2			c.263C>T						15	SNP	c.(262-264)ACG>ATG	36	36			ovary(3)|skin(1)	4	Broad	membrane alanine aminopeptidase precursor		Ezetimibe(DB00973)	90349552		0.597	ENSG00000166825	696	g.chr15:90349552G>A	angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	NSCLC(30;827 977 2459 19669 26125)			NSCLC(30;827 977 2459 19669 26125)			160.719177	KEEP	25	34	-1	49	49	25	34	-1	162.146994	49	49	0.391304	1	0	0	0	0	1	0	0	0	--	--		0	A				179	GBM-26-1439-TP	p.T88M	G	CGGTCTCAGCGTCACCCGGTA	NM_001150	NP_001141	90349552	P15144	AMPN_HUMAN	0	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		2	555	-	A	A	Lung NSC(78;0.0221)|all_lung(78;0.0448)		Missense_Mutation	88			Extracellular.|Metalloprotease.			
ANTXR1	84168		GRCh37	2	69240637	69240637	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000303714.4:c.6C>T	p.Ala2=	p.A2=	ENST00000303714	NM_032208.2	2	gcC/gcT	0																																																																																																																																																																																																																																												
ANXA2R	389289	broad.mit.edu	GRCh37	5	43040058	43040058	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-06-2559-01	TCGA-06-2559-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314890.3:c.91G>T	p.Glu31Ter	p.E31*	ENST00000314890	NM_001014279.2	31	Gaa/Taa	0			1			A	E/*	uc003jnf.2	protein_coding	YES	CCDS34153.1			91/582										0	c.(91-93)GAA>TAA				annexin II receptor				ENSP00000315915		2-Feb									COSM3410289	2-Feb	.		ENST00000314890	Transcript					receptor activity	ENSG00000177721	g.chr5:43040058C>A	33463			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,5,43040058,C,A&fts=all	E31*	--	--	1																																OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C5orf39_uc010ivj.1_RNA|LOC153684_uc003jng.2_5'Flank|LOC153684_uc003jni.2_5'Flank	1	1			p.E31*	NM_001014279	NP_001014301			1	AX2R_HUMAN	ANXA2R	HGNC	Q3ZCQ2	AX2R_HUMAN					1	390	-			UPI0000072CD4	31					SNV	ANXA2R,stop_gained,p.Glu31Ter,ENST00000314890,NM_001014279.2;CTD-2201E18.3,intron_variant,,ENST00000503152,;AC025171.1,upstream_gene_variant,,ENST00000451894,;AC025171.1,upstream_gene_variant,,ENST00000505541,;AC025171.1,upstream_gene_variant,,ENST00000399543,;AC025171.1,upstream_gene_variant,,ENST00000508913,;AC025171.1,upstream_gene_variant,,ENST00000515108,;	uc003jnf.2	c.91G>T	1511/2234	5	2			c.91G>T						5	SNP	c.(91-93)GAA>TAA	46	46				0	Broad	annexin II receptor			43040058		0.567	ENSG00000177721	2250	g.chr5:43040058C>A			receptor activity							-11.910906	KEEP	3	3	0.5	43	62	3	3	0.5	8.47658	43	62	0.052083	1	0	0	0	0	0	1	0	0	--	--		0	A	OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C5orf39_uc010ivj.1_RNA|LOC153684_uc003jng.2_5'Flank|LOC153684_uc003jni.2_5'Flank	83	GBM-06-2559-TP	p.E31*	C	CCACGATCTTCTGAACTCACA	NM_001014279	NP_001014301	43040058	Q3ZCQ2	AX2R_HUMAN	0			1	390	-	A	A			Nonsense_Mutation	31						
ANXA2R	0	broad.mit.edu	GRCh37	5	43040065	43040065	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-2631-01	TCGA-19-2631-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314890.3:c.84G>A	p.Val28=	p.V28=	ENST00000314890	NM_001014279.2	28	gtG/gtA	0			1			T	V	uc003jnf.2	protein_coding	YES	CCDS34153.1			84/582										0	c.(82-84)GTG>GTA				annexin II receptor				ENSP00000315915		2-Feb									COSM2156440	2-Feb	.		ENST00000314890	Transcript					receptor activity	ENSG00000177721	g.chr5:43040065C>T	33463			LOW								--	--	1																																OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C5orf39_uc010ivj.1_RNA|LOC153684_uc003jng.2_5'Flank|LOC153684_uc003jni.2_5'Flank	1	1			p.V28V	NM_001014279	NP_001014301			1	AX2R_HUMAN	ANXA2R	HGNC	Q3ZCQ2	AX2R_HUMAN					1	383	-			UPI0000072CD4	28					SNV	ANXA2R,synonymous_variant,p.=,ENST00000314890,NM_001014279.2;CTD-2201E18.3,intron_variant,,ENST00000503152,;AC025171.1,upstream_gene_variant,,ENST00000451894,;AC025171.1,upstream_gene_variant,,ENST00000505541,;AC025171.1,upstream_gene_variant,,ENST00000399543,;AC025171.1,upstream_gene_variant,,ENST00000508913,;AC025171.1,upstream_gene_variant,,ENST00000515108,;	uc003jnf.2	c.84G>A	1504/2234	2	2			c.84G>A						5	SNP	c.(82-84)GTG>GTA	34	34				0	Broad	annexin II receptor			43040065		0.557	ENSG00000177721	2250	g.chr5:43040065C>T			receptor activity							97.660124	KEEP	16	30	-1	57	36	16	30	-1	100.195418	57	36	0.336449	1	0	0	0	0	0	0	1	0	--	--		0	T	OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C5orf39_uc010ivj.1_RNA|LOC153684_uc003jng.2_5'Flank|LOC153684_uc003jni.2_5'Flank	167	GBM-19-2631-TP	p.V28V	C	CTTCTGAACTCACAATAGGTG	NM_001014279	NP_001014301	43040065	Q3ZCQ2	AX2R_HUMAN	0			1	383	-	T	T			Silent	28						
ANXA3	0	broad.mit.edu	GRCh37	4	79507428	79507428	+	synonymous_variant	Silent	SNP	C	C	T	rs144437584		TCGA-76-4929-01	TCGA-76-4929-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264908.6:c.327C>T	p.Asn109=	p.N109=	ENST00000264908	NM_005139.2	109	aaC/aaT	0	T:0		1			T	N	uc003hld.2	protein_coding	YES	CCDS3584.1			327/972										0	c.(325-327)AAC>AAT			hmmpanther:PTHR10502,hmmpanther:PTHR10502:SF25,PROSITE_patterns:PS00223,Gene3D:1.10.220.10,Pfam_domain:PF00191,SMART_domains:SM00335,Superfamily_domains:SSF47874,Prints_domain:PR00196	annexin A3			T:0.0001	ENSP00000264908		13-Jun	3.29E-05				0.000151	1.50E-05		0.000121	rs144437584,COSM3409557	13-Jun	.		ENST00000264908	Transcript			defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity	ENSG00000138772	g.chr4:79507428C>T	541			LOW								--	--	1																																		ANXA3_uc003hle.2_Silent_p.N70N|ANXA3_uc010ijk.2_Silent_p.N70N	0,1	1			p.N109N	NM_005139	NP_005130			0,1	ANXA3_HUMAN	ANXA3	HGNC	P12429	ANXA3_HUMAN			D6RFG5_HUMAN,D6RCA8_HUMAN,D6RAZ8_HUMAN,D6RA82_HUMAN		6	637	+			UPI0000110519	109			Annexin 2.		SNV	ANXA3,synonymous_variant,p.=,ENST00000264908,NM_005139.2;ANXA3,synonymous_variant,p.=,ENST00000503570,;ANXA3,synonymous_variant,p.=,ENST00000512884,;ANXA3,synonymous_variant,p.=,ENST00000514171,;ANXA3,synonymous_variant,p.=,ENST00000508214,;ANXA3,intron_variant,,ENST00000512542,;ANXA3,downstream_gene_variant,,ENST00000512373,;ANXA3,downstream_gene_variant,,ENST00000510502,;	uc003hld.2	c.327C>T	706/1657	1	1			c.327C>T						4	SNP	c.(325-327)AAC>AAT	13	13				0	Broad	annexin A3			79507428		0.343	ENSG00000138772	705	g.chr4:79507428C>T	defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity	GBM(2;126 157 27790 28920 42492)			GBM(2;126 157 27790 28920 42492)			189.890017	KEEP	36	35	-1	68	47	36	35	-1	191.471489	68	47	0.39375	1	0	0	0	0	0	0	1	0	--	--		0	T			ANXA3_uc003hle.2_Silent_p.N70N|ANXA3_uc010ijk.2_Silent_p.N70N	269	GBM-76-4929-TP	p.N109N	C	CGGGAACAAACGAAGATGCCT	NM_005139	NP_005130	79507428	P12429	ANXA3_HUMAN	0			6	637	+	T	T			Silent	109			Annexin 2.			
ANXA3	306		GRCh37	4	79503370	79503370	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000264908.6:c.238T>A	p.Phe80Ile	p.F80I	ENST00000264908	NM_005139.2	80	Ttt/Att	0																																																																																																																																																																																																																																												
ANXA6	0	broad.mit.edu	GRCh37	5	150512089	150512089	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5958-01	TCGA-19-5958-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354546.5:c.684C>T	p.Ala228=	p.A228=	ENST00000354546	NM_001155.4	228	gcC/gcT	0			1			A	A	uc003ltl.1	protein_coding	YES	CCDS47315.1			684/2022										0	c.(682-684)GCC>GCT			Gene3D:1.10.220.10,Pfam_domain:PF00191,PROSITE_patterns:PS00223,hmmpanther:PTHR10502,hmmpanther:PTHR10502:SF19,SMART_domains:SM00335,Superfamily_domains:SSF47874	annexin VI isoform 1				ENSP00000346550		26-Oct									COSM3410006,COSM3410005	26-Oct	.		ENST00000354546	Transcript				melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	ENSG00000197043	g.chr5:150512089G>A	544			LOW								--	--	1																																		ANXA6_uc011dcp.1_Silent_p.A196A|ANXA6_uc003ltm.1_Silent_p.A228A|ANXA6_uc003ltn.1_Intron|ANXA6_uc003lto.1_Intron	1,1	1			p.A228A	NM_001155	NP_001146			1,1	ANXA6_HUMAN	ANXA6	HGNC	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		E5RK63_HUMAN,E5RJR0_HUMAN,E5RJF5_HUMAN,B7Z582_HUMAN		10	836	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	UPI000013CB37	228			Annexin 3.		SNV	ANXA6,synonymous_variant,p.=,ENST00000354546,NM_001155.4;ANXA6,synonymous_variant,p.=,ENST00000523714,NM_001193544.1;ANXA6,synonymous_variant,p.=,ENST00000356496,;ANXA6,intron_variant,,ENST00000521512,;ANXA6,intron_variant,,ENST00000377751,;ANXA6,intron_variant,,ENST00000517486,;ANXA6,downstream_gene_variant,,ENST00000523164,;ANXA6,downstream_gene_variant,,ENST00000521749,;ANXA6,downstream_gene_variant,,ENST00000517757,;ANXA6,3_prime_UTR_variant,,ENST00000517677,;ANXA6,non_coding_transcript_exon_variant,,ENST00000517707,;ANXA6,intron_variant,,ENST00000519644,;ANXA6,downstream_gene_variant,,ENST00000520378,;ANXA6,upstream_gene_variant,,ENST00000520054,;	uc003ltl.1	c.684C>T	912/2593	1	1			c.684C>T						5	SNP	c.(682-684)GCC>GCT	64	64				0	Broad	annexin VI isoform 1			150512089		0.542	ENSG00000197043	708	g.chr5:150512089G>A		melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding							26.666608	KEEP	6	5	-1	13	9	6	5	-1	27.458841	13	9	0.321429	1	0	0	0	0	0	0	1	0	--	--		0	A			ANXA6_uc011dcp.1_Silent_p.A196A|ANXA6_uc003ltm.1_Silent_p.A228A|ANXA6_uc003ltn.1_Intron|ANXA6_uc003lto.1_Intron	176	GBM-19-5958-TP	p.A228A	G	CTCGGATGCTGGCTTCAATCG	NM_001155	NP_001146	150512089	P08133	ANXA6_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	836	-	A	A		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	Silent	228			Annexin 3.			
AOAH	313	broad.mit.edu	GRCh37	7	36571797	36571797	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01	TCGA-06-0174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258749.5:c.1381G>A	p.Gly461Ser	p.G461S	ENST00000258749	NM_001637.3	461	Ggc/Agc	0	T:0		1			T	G/S	uc003tfh.3	protein_coding	YES	CCDS5448.1			1381/1728									skin(1)	1	c.(1381-1383)GGC>AGC			hmmpanther:PTHR15010,Pfam_domain:PF00657	acyloxyacyl hydrolase precursor			T:0.0001	ENSP00000258749		18/21	5.77E-05		8.64E-05	0.000116		5.99E-05		6.06E-05	rs371233935,COSM3412010	18/21	.		ENST00000258749	Transcript			inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	ENSG00000136250	g.chr7:36571797C>T	548			MODERATE								--	--	1																																		AOAH_uc010kxf.2_Missense_Mutation_p.G461S|AOAH_uc011kba.1_Missense_Mutation_p.G429S	0,1	1		possibly_damaging(0.455)	p.G461S	NM_001637	NP_001628		deleterious(0.05)	0,1	AOAH_HUMAN	AOAH	HGNC	P28039	AOAH_HUMAN					18	1782	-			UPI0000001291	461					SNV	AOAH,missense_variant,p.Gly461Ser,ENST00000431169,NM_001177506.1;AOAH,missense_variant,p.Gly461Ser,ENST00000258749,NM_001637.3;AOAH,missense_variant,p.Gly429Ser,ENST00000535891,NM_001177507.1;AOAH,missense_variant,p.Gly183Ser,ENST00000538464,;AOAH,non_coding_transcript_exon_variant,,ENST00000491444,;AOAH,downstream_gene_variant,,ENST00000487014,;AOAH,upstream_gene_variant,,ENST00000483864,;AOAH,downstream_gene_variant,,ENST00000495942,;	uc003tfh.3	c.1381G>A	1781/2379	2	2			c.1381G>A						7	SNP	c.(1381-1383)GGC>AGC	47	47			skin(1)	1	Broad	acyloxyacyl hydrolase precursor			36571797		0.512	ENSG00000136250	711	g.chr7:36571797C>T	inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity							206.75545	KEEP	46	37	-1	94	119	46	37	-1	215.933263	94	119	0.292887	1	0	0	0	0	1	0	0	0	--	--		0	T			AOAH_uc010kxf.2_Missense_Mutation_p.G461S|AOAH_uc011kba.1_Missense_Mutation_p.G429S	37	GBM-06-0174-TP	p.G461S	C	GACATCCAGCCGTGGCAGGGG	NM_001637	NP_001628	36571797	P28039	AOAH_HUMAN	0			18	1782	-	T	T			Missense_Mutation	461						
AOAH	0	broad.mit.edu	GRCh37	7	36571798	36571798	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-2572-01	TCGA-41-2572-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258749.5:c.1380C>T	p.His460=	p.H460=	ENST00000258749	NM_001637.3	460	caC/caT	0			1			A	H	uc003tfh.3	protein_coding	YES	CCDS5448.1			1380/1728									skin(1)	1	c.(1378-1380)CAC>CAT			hmmpanther:PTHR15010,Pfam_domain:PF00657	acyloxyacyl hydrolase precursor				ENSP00000258749		18/21	6.59E-05		0.000345	0.000116				0.000182	rs768364625,COSM236992	18/21	.		ENST00000258749	Transcript			inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	ENSG00000136250	g.chr7:36571798G>A	548			LOW								--	--	1																																		AOAH_uc010kxf.2_Silent_p.H460H|AOAH_uc011kba.1_Silent_p.H428H	0,1	1			p.H460H	NM_001637	NP_001628			0,1	AOAH_HUMAN	AOAH	HGNC	P28039	AOAH_HUMAN					18	1781	-			UPI0000001291	460					SNV	AOAH,synonymous_variant,p.=,ENST00000431169,NM_001177506.1;AOAH,synonymous_variant,p.=,ENST00000258749,NM_001637.3;AOAH,synonymous_variant,p.=,ENST00000535891,NM_001177507.1;AOAH,synonymous_variant,p.=,ENST00000538464,;AOAH,non_coding_transcript_exon_variant,,ENST00000491444,;AOAH,downstream_gene_variant,,ENST00000487014,;AOAH,upstream_gene_variant,,ENST00000483864,;AOAH,downstream_gene_variant,,ENST00000495942,;	uc003tfh.3	c.1380C>T	1780/2379	2	2			c.1380C>T						7	SNP	c.(1378-1380)CAC>CAT	43	43			skin(1)	1	Broad	acyloxyacyl hydrolase precursor			36571798		0.512	ENSG00000136250	711	g.chr7:36571798G>A	inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity							167.120473	KEEP	27	44	-1	88	78	27	44	-1	172.651263	88	78	0.319372	1	0	0	0	0	0	0	1	0	--	--		0	A			AOAH_uc010kxf.2_Silent_p.H460H|AOAH_uc011kba.1_Silent_p.H428H	251	GBM-41-2572-TP	p.H460H	G	ACATCCAGCCGTGGCAGGGGC	NM_001637	NP_001628	36571798	P28039	AOAH_HUMAN	0			18	1781	-	A	A			Silent	460						
AOAH	0	broad.mit.edu	GRCh37	7	36571798	36571798	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6573-01	TCGA-74-6573-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258749.5:c.1380C>T	p.His460=	p.H460=	ENST00000258749	NM_001637.3	460	caC/caT	0			1			A	H	uc003tfh.3	protein_coding	YES	CCDS5448.1			1380/1728									skin(1)	1	c.(1378-1380)CAC>CAT			hmmpanther:PTHR15010,Pfam_domain:PF00657	acyloxyacyl hydrolase precursor				ENSP00000258749		18/21	6.59E-05		0.000345	0.000116				0.000182	rs768364625,COSM236992	18/21	.		ENST00000258749	Transcript			inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	ENSG00000136250	g.chr7:36571798G>A	548			LOW								--	--	1																																		AOAH_uc010kxf.2_Silent_p.H460H|AOAH_uc011kba.1_Silent_p.H428H	0,1	1			p.H460H	NM_001637	NP_001628			0,1	AOAH_HUMAN	AOAH	HGNC	P28039	AOAH_HUMAN					18	1781	-			UPI0000001291	460					SNV	AOAH,synonymous_variant,p.=,ENST00000431169,NM_001177506.1;AOAH,synonymous_variant,p.=,ENST00000258749,NM_001637.3;AOAH,synonymous_variant,p.=,ENST00000535891,NM_001177507.1;AOAH,synonymous_variant,p.=,ENST00000538464,;AOAH,non_coding_transcript_exon_variant,,ENST00000491444,;AOAH,downstream_gene_variant,,ENST00000487014,;AOAH,upstream_gene_variant,,ENST00000483864,;AOAH,downstream_gene_variant,,ENST00000495942,;	uc003tfh.3	c.1380C>T	1780/2379	2	2			c.1380C>T						7	SNP	c.(1378-1380)CAC>CAT	43	43			skin(1)	1	Broad	acyloxyacyl hydrolase precursor			36571798		0.512	ENSG00000136250	711	g.chr7:36571798G>A	inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity							97.062002	KEEP	23	20	-1	53	68	23	20	-1	104.046842	53	68	0.268966	1	0	0	0	0	0	0	1	0	--	--		0	A			AOAH_uc010kxf.2_Silent_p.H460H|AOAH_uc011kba.1_Silent_p.H428H	260	GBM-74-6573-TP	p.H460H	G	ACATCCAGCCGTGGCAGGGGC	NM_001637	NP_001628	36571798	P28039	AOAH_HUMAN	0			18	1781	-	A	A			Silent	460						
AOC1	26	broad.mit.edu	GRCh37	7	150554420	150554420	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0216-01	TCGA-06-0216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000493429.1:c.862C>T	p.Arg288Cys	p.R288C	ENST00000493429		288	Cgc/Tgc	0			1			T	R/C	uc003why.1	protein_coding		CCDS43679.1			862/2256									ovary(2)|breast(2)|skin(2)	6	c.(862-864)CGC>TGC			hmmpanther:PTHR10638,hmmpanther:PTHR10638:SF3,Gene3D:2.70.98.20,Superfamily_domains:SSF54416	amiloride binding protein 1 precursor	Amiloride(DB00594)|Spermine(DB00127)			ENSP00000354193		5-Feb	1.66E-05	0.000127				1.78E-05			rs767383158,COSM3411795,COSM3411796	5-Feb	.		ENST00000360937	Transcript			amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	ENSG00000002726	g.chr7:150554420C>T	80			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=ABP1_HUMAN&rb=242&re=299&var=R288C	getma.org/pdb.php?prot=ABP1_HUMAN&from=242&to=299&var=R288C	getma.org/?cm=var&var=hg19,7,150554420,C,T&fts=all	R288C	--	--	1																																		ABP1_uc003whz.1_Missense_Mutation_p.R288C|ABP1_uc003wia.1_Missense_Mutation_p.R288C	0,1,1			probably_damaging(0.919)	p.R288C	NM_001091	NP_001082		deleterious(0)	0,1,1	AOC1_HUMAN	AOC1	HGNC	P19801	ABP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	C9J2J4_HUMAN,C9J0G8_HUMAN		3	5080	+	all_neural(206;0.219)		UPI00001AF136	288					SNV	AOC1,missense_variant,p.Arg288Cys,ENST00000493429,;AOC1,missense_variant,p.Arg288Cys,ENST00000467291,;AOC1,missense_variant,p.Arg288Cys,ENST00000360937,NM_001091.3;AOC1,missense_variant,p.Arg288Cys,ENST00000416793,NM_001272072.1;AOC1,missense_variant,p.Arg288Cys,ENST00000483043,;AOC1,downstream_gene_variant,,ENST00000460213,;AOC1,upstream_gene_variant,,ENST00000480582,;	uc003why.1	c.862C>T	960/2649	2	2			c.862C>T						7	SNP	c.(862-864)CGC>TGC	37	37			ovary(2)|breast(2)|skin(2)	6	Broad	amiloride binding protein 1 precursor		Amiloride(DB00594)|Spermine(DB00127)	150554420		0.697	ENSG00000002726	98	g.chr7:150554420C>T	amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	Pancreas(195;1227 3054 24912 28503)			Pancreas(195;1227 3054 24912 28503)			45.586941	KEEP	9	7	-1	19	18	9	7	-1	46.526727	19	18	0.347826	1	0	0	0	0	1	0	0	0	--	--		0	T			ABP1_uc003whz.1_Missense_Mutation_p.R288C|ABP1_uc003wia.1_Missense_Mutation_p.R288C	51	GBM-06-0216-TP	p.R288C	C	CCACAAGCCCCGCGGGGACTT	NM_001091	NP_001082	150554420	P19801	ABP1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	5080	+	T	T	all_neural(206;0.219)		Missense_Mutation	288						
AOC1	26	broad.mit.edu	GRCh37	7	150558161	150558161	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000493429.1:c.2120C>T	p.Ser707Phe	p.S707F	ENST00000493429		707	tCc/tTc	0			1			T	S/F	uc003why.1	protein_coding		CCDS43679.1			2120/2256									ovary(2)|breast(2)|skin(2)	6	c.(2119-2121)TCC>TTC			hmmpanther:PTHR10638,hmmpanther:PTHR10638:SF3,Gene3D:2.70.98.20,Pfam_domain:PF01179,Superfamily_domains:SSF49998	amiloride binding protein 1 precursor	Amiloride(DB00594)|Spermine(DB00127)			ENSP00000354193		5-May									COSM3411797,COSM3411798	5-May	.		ENST00000360937	Transcript			amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	ENSG00000002726	g.chr7:150558161C>T	80			MODERATE		2.87	medium	getma.org/?cm=msa&ty=f&p=ABP1_HUMAN&rb=300&re=715&var=S707F	getma.org/pdb.php?prot=ABP1_HUMAN&from=300&to=715&var=S707F	getma.org/?cm=var&var=hg19,7,150558161,C,T&fts=all	S707F	--	--	1																																		ABP1_uc003whz.1_Missense_Mutation_p.S707F|ABP1_uc003wia.1_Missense_Mutation_p.S726F	1,1			probably_damaging(0.931)	p.S707F	NM_001091	NP_001082		deleterious(0)	1,1	AOC1_HUMAN	AOC1	HGNC	P19801	ABP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	C9J2J4_HUMAN,C9J0G8_HUMAN		6	6338	+	all_neural(206;0.219)		UPI00001AF136	707					SNV	AOC1,missense_variant,p.Ser707Phe,ENST00000493429,;AOC1,missense_variant,p.Ser707Phe,ENST00000467291,;AOC1,missense_variant,p.Ser707Phe,ENST00000360937,NM_001091.3;AOC1,missense_variant,p.Ser726Phe,ENST00000416793,NM_001272072.1;AOC1,downstream_gene_variant,,ENST00000483043,;AOC1,downstream_gene_variant,,ENST00000460213,;AOC1,non_coding_transcript_exon_variant,,ENST00000480582,;	uc003why.1	c.2120C>T	2218/2649	2	2			c.2120C>T						7	SNP	c.(2119-2121)TCC>TTC	35	35			ovary(2)|breast(2)|skin(2)	6	Broad	amiloride binding protein 1 precursor		Amiloride(DB00594)|Spermine(DB00127)	150558161		0.622	ENSG00000002726	98	g.chr7:150558161C>T	amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	Pancreas(195;1227 3054 24912 28503)			Pancreas(195;1227 3054 24912 28503)			107.144748	KEEP	21	19	-1	30	44	21	19	-1	109.275159	30	44	0.349057	1	0	0	0	0	1	0	0	0	--	--		0	T			ABP1_uc003whz.1_Missense_Mutation_p.S707F|ABP1_uc003wia.1_Missense_Mutation_p.S726F	65	GBM-06-0743-TP	p.S707F	C	GAGGACCCCTCCCTGGCATCC	NM_001091	NP_001082	150558161	P19801	ABP1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	6	6338	+	T	T	all_neural(206;0.219)		Missense_Mutation	707						
AOC1	26	broad.mit.edu	GRCh37	7	150558187	150558187	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0879-01	TCGA-06-0879-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000493429.1:c.2146G>A	p.Val716Met	p.V716M	ENST00000493429		716	Gtg/Atg	0	A:0.0002		1			A	V/M	uc003why.1	protein_coding		CCDS43679.1			2146/2256									ovary(2)|breast(2)|skin(2)	6	c.(2146-2148)GTG>ATG			hmmpanther:PTHR10638,hmmpanther:PTHR10638:SF3,Gene3D:2.70.98.20,Superfamily_domains:SSF49998	amiloride binding protein 1 precursor	Amiloride(DB00594)|Spermine(DB00127)		A:0.0002	ENSP00000354193		5-May	2.48E-05	0.000102				1.50E-05		6.06E-05	rs199683372,COSM2152325,COSM3411799	5-May	.		ENST00000360937	Transcript			amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	ENSG00000002726	g.chr7:150558187G>A	80			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=ABP1_HUMAN&rb=716&re=751&var=V716M	getma.org/pdb.php?prot=ABP1_HUMAN&from=716&to=751&var=V716M	getma.org/?cm=var&var=hg19,7,150558187,G,A&fts=all	V716M	--	--	1																																		ABP1_uc003whz.1_Missense_Mutation_p.V716M|ABP1_uc003wia.1_Missense_Mutation_p.V735M	0,1,1			probably_damaging(0.999)	p.V716M	NM_001091	NP_001082		deleterious(0.01)	0,1,1	AOC1_HUMAN	AOC1	HGNC	P19801	ABP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	C9J2J4_HUMAN,C9J0G8_HUMAN		6	6364	+	all_neural(206;0.219)		UPI00001AF136	716					SNV	AOC1,missense_variant,p.Val716Met,ENST00000493429,;AOC1,missense_variant,p.Val716Met,ENST00000467291,;AOC1,missense_variant,p.Val716Met,ENST00000360937,NM_001091.3;AOC1,missense_variant,p.Val735Met,ENST00000416793,NM_001272072.1;AOC1,downstream_gene_variant,,ENST00000483043,;AOC1,downstream_gene_variant,,ENST00000460213,;AOC1,non_coding_transcript_exon_variant,,ENST00000480582,;	uc003why.1	c.2146G>A	2244/2649	2	2			c.2146G>A						7	SNP	c.(2146-2148)GTG>ATG	26	26			ovary(2)|breast(2)|skin(2)	6	Broad	amiloride binding protein 1 precursor		Amiloride(DB00594)|Spermine(DB00127)	150558187		0.602	ENSG00000002726	98	g.chr7:150558187G>A	amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	Pancreas(195;1227 3054 24912 28503)			Pancreas(195;1227 3054 24912 28503)			126.463058	KEEP	20	33	-1	73	83	20	33	-1	136.440554	73	83	0.260417	1	0	0	0	0	1	0	0	0	--	--		0	A			ABP1_uc003whz.1_Missense_Mutation_p.V716M|ABP1_uc003wia.1_Missense_Mutation_p.V735M	75	GBM-06-0879-TP	p.V716M	G	CACTGTGATCGTGTGGCCTCG	NM_001091	NP_001082	150558187	P19801	ABP1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	6	6364	+	A	A	all_neural(206;0.219)		Missense_Mutation	716						
AOC1	0	broad.mit.edu	GRCh37	7	150554147	150554147	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01	TCGA-14-2554-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360937.4:c.589C>T	p.Arg197Cys	p.R197C	ENST00000360937	NM_001091.3	197	Cgc/Tgc	0	T:0	T:0	1	T:0		T	R/C	uc003why.1	protein_coding		CCDS43679.1			589/2256									ovary(2)|breast(2)|skin(2)	6	c.(589-591)CGC>TGC			hmmpanther:PTHR10638,hmmpanther:PTHR10638:SF3,Pfam_domain:PF02728,Superfamily_domains:SSF54416,Prints_domain:PR00766	amiloride binding protein 1 precursor	Amiloride(DB00594)|Spermine(DB00127)	T:0	T:0.0001	ENSP00000354193	T:0	5-Feb	0.000149		8.64E-05			0.000105	0.00111	0.000545	rs370771602,COSM3411793,COSM3411794	5-Feb	common_variant		ENST00000360937	Transcript		T:0.0004	amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	ENSG00000002726	g.chr7:150554147C>T	80			MODERATE		2.98	medium	getma.org/?cm=msa&ty=f&p=ABP1_HUMAN&rb=141&re=241&var=R197C	getma.org/pdb.php?prot=ABP1_HUMAN&from=141&to=241&var=R197C	getma.org/?cm=var&var=hg19,7,150554147,C,T&fts=all	R197C	--	--	1																																		ABP1_uc003whz.1_Missense_Mutation_p.R197C|ABP1_uc003wia.1_Missense_Mutation_p.R197C	0,1,1			probably_damaging(1)	p.R197C	NM_001091	NP_001082	T:0.002	deleterious(0)	0,1,1	AOC1_HUMAN	AOC1	HGNC	P19801	ABP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	C9J2J4_HUMAN,C9J0G8_HUMAN		3	4807	+	all_neural(206;0.219)		UPI00001AF136	197					SNV	AOC1,missense_variant,p.Arg197Cys,ENST00000493429,;AOC1,missense_variant,p.Arg197Cys,ENST00000467291,;AOC1,missense_variant,p.Arg197Cys,ENST00000360937,NM_001091.3;AOC1,missense_variant,p.Arg197Cys,ENST00000416793,NM_001272072.1;AOC1,missense_variant,p.Arg197Cys,ENST00000483043,;AOC1,missense_variant,p.Arg197Cys,ENST00000460213,;AOC1,upstream_gene_variant,,ENST00000480582,;	uc003why.1	c.589C>T	687/2649	2	2			c.589C>T						7	SNP	c.(589-591)CGC>TGC	28	28			ovary(2)|breast(2)|skin(2)	6	Broad	amiloride binding protein 1 precursor		Amiloride(DB00594)|Spermine(DB00127)	150554147		0.577	ENSG00000002726	98	g.chr7:150554147C>T	amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	Pancreas(195;1227 3054 24912 28503)			Pancreas(195;1227 3054 24912 28503)			98.764429	KEEP	24	21	-1	43	78	24	21	-1	105.805905	43	78	0.265734	1	0	0	0	0	1	0	0	0	--	--		0	T			ABP1_uc003whz.1_Missense_Mutation_p.R197C|ABP1_uc003wia.1_Missense_Mutation_p.R197C	150	GBM-14-2554-TP	p.R197C	C	TTCTGGCCAGCGCCGCAGTTG	NM_001091	NP_001082	150554147	P19801	ABP1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	4807	+	T	T	all_neural(206;0.219)		Missense_Mutation	197						
AOC2	0	broad.mit.edu	GRCh37	17	40997352	40997352	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6285-01	TCGA-76-6285-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000253799.3:c.709G>A	p.Val237Met	p.V237M	ENST00000253799	NM_009590.2	237	Gtg/Atg	0		A:0	1	A:0		A	V/M	uc002ibu.2	protein_coding	YES	CCDS11443.1			709/2271									ovary(2)	2	c.(709-711)GTG>ATG			Prints_domain:PR00766,Superfamily_domains:SSF54416,Gene3D:3.10.450.40,Pfam_domain:PF02728,hmmpanther:PTHR10638,hmmpanther:PTHR10638:SF4	amine oxidase, copper containing 2 isoform b		A:0		ENSP00000253799	A:0.001	4-Jan	3.29E-05			0.000116		4.52E-05			rs577504737,COSM3402916	4-Jan	.		ENST00000253799	Transcript		A:0.0002	catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	ENSG00000131480	g.chr17:40997352G>A	549			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=AOC2_HUMAN&rb=165&re=263&var=V237M	getma.org/pdb.php?prot=AOC2_HUMAN&from=165&to=263&var=V237M	getma.org/?cm=var&var=hg19,17,40997352,G,A&fts=all	V237M	--	--	1																																		AOC2_uc002ibt.2_Missense_Mutation_p.V237M	0,1	1		probably_damaging(0.95)	p.V237M	NM_009590	NP_033720	A:0	deleterious(0.01)	0,1	AOC2_HUMAN	AOC2	HGNC	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)			1	744	+		Breast(137;0.000143)	UPI000013CDF4	237					SNV	AOC2,missense_variant,p.Val237Met,ENST00000253799,NM_009590.2;AOC2,missense_variant,p.Val237Met,ENST00000452774,NM_001158.3;PSME3,downstream_gene_variant,,ENST00000293362,NM_176863.2,NM_005789.3;PSME3,downstream_gene_variant,,ENST00000545225,;PSME3,downstream_gene_variant,,ENST00000441946,;PSME3,downstream_gene_variant,,ENST00000541124,NM_001267045.1;PSME3,downstream_gene_variant,,ENST00000590720,;PSME3,downstream_gene_variant,,ENST00000592169,;PSME3,downstream_gene_variant,,ENST00000543428,;	uc002ibu.2	c.709G>A	736/2657	2	2			c.709G>A						17	SNP	c.(709-711)GTG>ATG	17	17			ovary(2)	2	Broad	amine oxidase, copper containing 2 isoform b			40997352		0.612	ENSG00000131480	712	g.chr17:40997352G>A	catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity							155.028739	KEEP	22	29	-1	9	4	22	29	-1	160.906586	9	4	0.827586	1	0	0	0	0	1	0	0	0	--	--		0	A			AOC2_uc002ibt.2_Missense_Mutation_p.V237M	280	GBM-76-6285-TP	p.V237M	G	CCTTCACCCCGTGGGGCTGGA	NM_009590	NP_033720	40997352	O75106	AOC2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	744	+	A	A		Breast(137;0.000143)	Missense_Mutation	237						
AOC2	314		GRCh37	17	41001205	41001205	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000253799.3:c.1691T>G	p.Val564Gly	p.V564G	ENST00000253799	NM_009590.2	564	gTc/gGc	0																																																																																																																																																																																																																																												
AOX1	316	broad.mit.edu	GRCh37	2	201478598	201478598	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01	TCGA-06-2559-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374700.2:c.1520C>T	p.Ala507Val	p.A507V	ENST00000374700	NM_001159.3	507	gCg/gTg	0			1			T	A/V	uc002uvx.2	protein_coding	YES	CCDS33360.1			1520/4017									ovary(4)|pancreas(1)|skin(1)	6	c.(1519-1521)GCG>GTG			hmmpanther:PTHR11908,Gene3D:3.30.390.50,Pfam_domain:PF03450,TIGRFAM_domain:TIGR02969,SMART_domains:SM01092,PIRSF_domain:PIRSF000127,Superfamily_domains:SSF55447	aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)			ENSP00000363832		15/35	0.000148				0.00106	0.000135	0.0022		rs759164141,COSM309180	15/35	common_variant		ENST00000374700	Transcript			inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	ENSG00000138356	g.chr2:201478598C>T	553			MODERATE		1.44	low	getma.org/?cm=msa&ty=f&p=ADO_HUMAN&rb=426&re=530&var=A507V	getma.org/pdb.php?prot=ADO_HUMAN&from=426&to=530&var=A507V	getma.org/?cm=var&var=hg19,2,201478598,C,T&fts=all	A507V	--	--	1																																		AOX1_uc010zhf.1_Missense_Mutation_p.A63V|AOX1_uc010fsu.2_5'UTR	0,1	1		probably_damaging(0.966)	p.A507V	NM_001159	NP_001150		tolerated(0.08)	0,1	ADO_HUMAN	AOX1	HGNC	Q06278	ADO_HUMAN			C9J244_HUMAN,B4DNI5_HUMAN		15	1621	+			UPI0000071863	507					SNV	AOX1,missense_variant,p.Ala507Val,ENST00000374700,NM_001159.3;AOX1,non_coding_transcript_exon_variant,,ENST00000485106,;AOX1,non_coding_transcript_exon_variant,,ENST00000465297,;AOX1,non_coding_transcript_exon_variant,,ENST00000485965,;	uc002uvx.2	c.1520C>T	1761/5070	2	2			c.1520C>T						2	SNP	c.(1519-1521)GCG>GTG	41	41			ovary(4)|pancreas(1)|skin(1)	6	Broad	aldehyde oxidase 1		Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	201478598		0.473	ENSG00000138356	714	g.chr2:201478598C>T	inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity							124.751839	KEEP	24	19	-1	29	26	24	19	-1	124.980795	29	26	0.446809	1	0	0	0	0	1	0	0	0	--	--		0	T			AOX1_uc010zhf.1_Missense_Mutation_p.A63V|AOX1_uc010fsu.2_5'UTR	83	GBM-06-2559-TP	p.A507V	C	TTGGGCTCGGCGCCAGGTGGG	NM_001159	NP_001150	201478598	Q06278	ADO_HUMAN	0			15	1621	+	T	T			Missense_Mutation	507						
AOX1	316	broad.mit.edu	GRCh37	2	201527627	201527627	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs142723794	byFrequency	TCGA-06-2561-01	TCGA-06-2561-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374700.2:c.3478G>A	p.Glu1160Lys	p.E1160K	ENST00000374700	NM_001159.3	1160	Gaa/Aaa	0	A:0		1			A	E/K	uc002uvx.2	protein_coding	YES	CCDS33360.1			3478/4017									ovary(4)|pancreas(1)|skin(1)	6	c.(3478-3480)GAA>AAA			hmmpanther:PTHR11908,Pfam_domain:PF02738,Gene3D:3.30.365.10,TIGRFAM_domain:TIGR02969,PIRSF_domain:PIRSF000127,Superfamily_domains:SSF56003	aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)		A:0.0012	ENSP00000363832		31/35	0.000634					0.000944	0.0011	0.000787	rs142723794,COSM2152722	31/35	common_variant		ENST00000374700	Transcript			inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	ENSG00000138356	g.chr2:201527627G>A	553			MODERATE		0.055	neutral	getma.org/?cm=msa&ty=f&p=ADO_HUMAN&rb=707&re=1245&var=E1160K	getma.org/pdb.php?prot=ADO_HUMAN&from=707&to=1245&var=E1160K	getma.org/?cm=var&var=hg19,2,201527627,G,A&fts=all	E1160K	--	--	1																																		AOX1_uc010zhf.1_Missense_Mutation_p.E716K|AOX1_uc010fsu.2_Missense_Mutation_p.E526K	0,1	1		benign(0.036)	p.E1160K	NM_001159	NP_001150		tolerated(0.65)	0,1	ADO_HUMAN	AOX1	HGNC	Q06278	ADO_HUMAN			C9J244_HUMAN,B4DNI5_HUMAN		31	3579	+			UPI0000071863	1160					SNV	AOX1,missense_variant,p.Glu1160Lys,ENST00000374700,NM_001159.3;AOX1,missense_variant,p.Glu46Lys,ENST00000260930,;AOX1,upstream_gene_variant,,ENST00000439380,;AOX1,non_coding_transcript_exon_variant,,ENST00000485106,;AOX1,non_coding_transcript_exon_variant,,ENST00000465297,;	uc002uvx.2	c.3478G>A	3719/5070	1	1			c.3478G>A						2	SNP	c.(3478-3480)GAA>AAA	59	59			ovary(4)|pancreas(1)|skin(1)	6	Broad	aldehyde oxidase 1		Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	201527627		0.483	ENSG00000138356	714	g.chr2:201527627G>A	inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity							108.02442	KEEP	23	25	-1	54	48	23	25	-1	111.968691	54	48	0.315385	1	0	0	0	0	1	0	0	0	--	--		0	A			AOX1_uc010zhf.1_Missense_Mutation_p.E716K|AOX1_uc010fsu.2_Missense_Mutation_p.E526K	84	GBM-06-2561-TP	p.E1160K	G	CCAGCCCTTCGAATACTTTGT	NM_001159	NP_001150	201527627	Q06278	ADO_HUMAN	0			31	3579	+	A	A			Missense_Mutation	1160						
AOX1	0	broad.mit.edu	GRCh37	2	201523898	201523898	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01	TCGA-12-0618-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374700.2:c.3182G>A	p.Arg1061His	p.R1061H	ENST00000374700	NM_001159.3	1061	cGt/cAt	0			1			A	R/H	uc002uvx.2	protein_coding	YES	CCDS33360.1			3182/4017									ovary(4)|pancreas(1)|skin(1)	6	c.(3181-3183)CGT>CAT			hmmpanther:PTHR11908,Pfam_domain:PF02738,Gene3D:3.30.365.10,TIGRFAM_domain:TIGR02969,PIRSF_domain:PIRSF000127,Superfamily_domains:SSF56003	aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)			ENSP00000363832		28/35	8.24E-06					1.51E-05			rs754213226,COSM2153605	28/35	.		ENST00000374700	Transcript			inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	ENSG00000138356	g.chr2:201523898G>A	553			MODERATE		1.66	low	getma.org/?cm=msa&ty=f&p=ADO_HUMAN&rb=707&re=1245&var=R1061H	getma.org/pdb.php?prot=ADO_HUMAN&from=707&to=1245&var=R1061H	getma.org/?cm=var&var=hg19,2,201523898,G,A&fts=all	R1061H	--	--	1																																		AOX1_uc010zhf.1_Missense_Mutation_p.R617H|AOX1_uc010fsu.2_Missense_Mutation_p.R427H	0,1	1		probably_damaging(0.984)	p.R1061H	NM_001159	NP_001150		tolerated(0.09)	0,1	ADO_HUMAN	AOX1	HGNC	Q06278	ADO_HUMAN			C9J244_HUMAN,B4DNI5_HUMAN		28	3283	+			UPI0000071863	1061					SNV	AOX1,missense_variant,p.Arg1061His,ENST00000374700,NM_001159.3;AOX1,upstream_gene_variant,,ENST00000439380,;AOX1,upstream_gene_variant,,ENST00000260930,;AOX1,non_coding_transcript_exon_variant,,ENST00000485106,;AOX1,non_coding_transcript_exon_variant,,ENST00000465297,;	uc002uvx.2	c.3182G>A	3423/5070	2	2			c.3182G>A						2	SNP	c.(3181-3183)CGT>CAT	20	20			ovary(4)|pancreas(1)|skin(1)	6	Broad	aldehyde oxidase 1		Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	201523898		0.453	ENSG00000138356	714	g.chr2:201523898G>A	inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity							143.137039	KEEP	29	25	-1	26	40	29	25	-1	143.594715	26	40	0.429907	1	0	0	0	0	1	0	0	0	--	--		0	A			AOX1_uc010zhf.1_Missense_Mutation_p.R617H|AOX1_uc010fsu.2_Missense_Mutation_p.R427H	119	GBM-12-0618-TP	p.R1061H	G	GTGGTCAGCCGTGAATTAAGA	NM_001159	NP_001150	201523898	Q06278	ADO_HUMAN	0			28	3283	+	A	A			Missense_Mutation	1061						
AOX1	0	broad.mit.edu	GRCh37	2	201478598	201478598	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01	TCGA-19-2620-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374700.2:c.1520C>T	p.Ala507Val	p.A507V	ENST00000374700	NM_001159.3	507	gCg/gTg	0			1			T	A/V	uc002uvx.2	protein_coding	YES	CCDS33360.1			1520/4017									ovary(4)|pancreas(1)|skin(1)	6	c.(1519-1521)GCG>GTG			hmmpanther:PTHR11908,Gene3D:3.30.390.50,Pfam_domain:PF03450,TIGRFAM_domain:TIGR02969,SMART_domains:SM01092,PIRSF_domain:PIRSF000127,Superfamily_domains:SSF55447	aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)			ENSP00000363832		15/35	0.000148				0.00106	0.000135	0.0022		rs759164141,COSM309180	15/35	common_variant		ENST00000374700	Transcript			inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	ENSG00000138356	g.chr2:201478598C>T	553			MODERATE		1.44	low	getma.org/?cm=msa&ty=f&p=ADO_HUMAN&rb=426&re=530&var=A507V	getma.org/pdb.php?prot=ADO_HUMAN&from=426&to=530&var=A507V	getma.org/?cm=var&var=hg19,2,201478598,C,T&fts=all	A507V	--	--	1																																		AOX1_uc010zhf.1_Missense_Mutation_p.A63V|AOX1_uc010fsu.2_5'UTR	0,1	1		probably_damaging(0.966)	p.A507V	NM_001159	NP_001150		tolerated(0.08)	0,1	ADO_HUMAN	AOX1	HGNC	Q06278	ADO_HUMAN			C9J244_HUMAN,B4DNI5_HUMAN		15	1621	+			UPI0000071863	507					SNV	AOX1,missense_variant,p.Ala507Val,ENST00000374700,NM_001159.3;AOX1,non_coding_transcript_exon_variant,,ENST00000485106,;AOX1,non_coding_transcript_exon_variant,,ENST00000465297,;AOX1,non_coding_transcript_exon_variant,,ENST00000485965,;	uc002uvx.2	c.1520C>T	1761/5070	2	2			c.1520C>T						2	SNP	c.(1519-1521)GCG>GTG	41	41			ovary(4)|pancreas(1)|skin(1)	6	Broad	aldehyde oxidase 1		Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	201478598		0.473	ENSG00000138356	714	g.chr2:201478598C>T	inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity							9.382167	KEEP	7	4	-1	50	33	7	4	-1	23.09181	50	33	0.10989	1	0	0	0	0	1	0	0	0	--	--		0	T			AOX1_uc010zhf.1_Missense_Mutation_p.A63V|AOX1_uc010fsu.2_5'UTR	162	GBM-19-2620-TP	p.A507V	C	TTGGGCTCGGCGCCAGGTGGG	NM_001159	NP_001150	201478598	Q06278	ADO_HUMAN	0			15	1621	+	T	T			Missense_Mutation	507						
AP1B1	0	broad.mit.edu	GRCh37	22	29754763	29754763	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000405198.1:c.477G>T	p.Gln159His	p.Q159H	ENST00000405198		159	caG/caT	0			1			A	Q/H	uc003afj.2	protein_coding		CCDS13855.1			477/2850									ovary(1)|skin(1)	2	c.(475-477)CAG>CAT			hmmpanther:PTHR11134:SF12,hmmpanther:PTHR11134,Pfam_domain:PF01602,Gene3D:1.25.10.10,PIRSF_domain:PIRSF002291,SMART_domains:SM00185,Superfamily_domains:SSF48371	adaptor-related protein complex 1 beta 1 subunit				ENSP00000384194		22-Apr									COSM3405576,COSM3405577	22-Apr	.		ENST00000405198	Transcript			endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	ENSG00000100280	g.chr22:29754763C>A	554			MODERATE		1.63	low	getma.org/?cm=msa&ty=f&p=AP1B1_HUMAN&rb=10&re=534&var=Q159H	getma.org/pdb.php?prot=AP1B1_HUMAN&from=10&to=534&var=Q159H	getma.org/?cm=var&var=hg19,22,29754763,C,A&fts=all	Q159H	--	--	1																																		AP1B1_uc003afi.2_Missense_Mutation_p.Q159H|AP1B1_uc003afk.2_Missense_Mutation_p.Q159H|AP1B1_uc003afl.2_Missense_Mutation_p.Q159H	1,1			benign(0.054)	p.Q159H	NM_001127	NP_001118		tolerated(0.08)	1,1	AP1B1_HUMAN	AP1B1	HGNC	Q10567	AP1B1_HUMAN			C9J1E7_HUMAN		5	661	-			UPI000013CED0	159					SNV	AP1B1,missense_variant,p.Gln159His,ENST00000357586,NM_001127.3;AP1B1,missense_variant,p.Gln159His,ENST00000356015,;AP1B1,missense_variant,p.Gln159His,ENST00000432560,NM_145730.2;AP1B1,missense_variant,p.Gln159His,ENST00000317368,NM_001166019.1;AP1B1,missense_variant,p.Gln159His,ENST00000405198,;AP1B1,missense_variant,p.Gln159His,ENST00000402502,;AP1B1,missense_variant,p.Gln159His,ENST00000415447,;AP1B1,missense_variant,p.Gln159His,ENST00000421126,;AP1B1,downstream_gene_variant,,ENST00000473606,;	uc003afj.2	c.477G>T	509/3838	2	2			c.477G>T						22	SNP	c.(475-477)CAG>CAT	28	28			ovary(1)|skin(1)	2	Broad	adaptor-related protein complex 1 beta 1 subunit			29754763		0.597	ENSG00000100280	716	g.chr22:29754763C>A	endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity							-40.473694	KEEP	2	2	0.5	86	101	2	2	0.5	6.842721	86	101	0.021622	1	0	0	0	0	1	0	0	0	--	--		0	A			AP1B1_uc003afi.2_Missense_Mutation_p.Q159H|AP1B1_uc003afk.2_Missense_Mutation_p.Q159H|AP1B1_uc003afl.2_Missense_Mutation_p.Q159H	218	GBM-28-5209-TP	p.Q159H	C	CCAGGAAGCCCTGGTCCTCCA	NM_001127	NP_001118	29754763	Q10567	AP1B1_HUMAN	0			5	661	-	A	A			Missense_Mutation	159						
AP2A1	0	broad.mit.edu	GRCh37	19	50270423	50270423	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1991-01	TCGA-32-1991-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359032.5:c.33G>A	p.Arg11=	p.R11=	ENST00000359032	NM_014203.2	11	cgG/cgA	0			1			A	R	uc002ppn.2	protein_coding	YES	CCDS46148.1			33/2934									ovary(2)	2	c.(31-33)CGG>CGA			hmmpanther:PTHR22780:SF19,hmmpanther:PTHR22780,Gene3D:1.25.10.10,PIRSF_domain:PIRSF037091,Superfamily_domains:SSF48371	adaptor-related protein complex 2, alpha 1				ENSP00000351926		24-Jan									COSM3404468,COSM3404467	24-Jan	.		ENST00000359032	Transcript			axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity	ENSG00000196961	g.chr19:50270423G>A	561			LOW								--	--	1																																		AP2A1_uc010enj.1_RNA|AP2A1_uc002ppo.2_Silent_p.R11R	1,1	1			p.R11R	NM_014203	NP_055018			1,1	AP2A1_HUMAN	AP2A1	HGNC	O95782	AP2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)	Q8N9K4_HUMAN		1	244	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	UPI0000167B50	11					SNV	AP2A1,synonymous_variant,p.=,ENST00000354293,NM_130787.2;AP2A1,synonymous_variant,p.=,ENST00000359032,NM_014203.2;TSKS,upstream_gene_variant,,ENST00000246801,NM_021733.1;RNU6-841P,upstream_gene_variant,,ENST00000383872,;AP2A1,non_coding_transcript_exon_variant,,ENST00000600199,;AP2A1,synonymous_variant,p.=,ENST00000597774,;	uc002ppn.2	c.33G>A	33/3286	2	2			c.33G>A						19	SNP	c.(31-33)CGG>CGA	30	30			ovary(2)	2	Broad	adaptor-related protein complex 2, alpha 1			50270423		0.706	ENSG00000196961	724	g.chr19:50270423G>A	axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity							-18.029481	KEEP	2	2	-1	58	80	2	2	-1	6.76055	58	80	0.029412	1	0	0	0	0	0	0	1	0	--	--		0	A			AP2A1_uc010enj.1_RNA|AP2A1_uc002ppo.2_Silent_p.R11R	234	GBM-32-1991-TP	p.R11R	G	ATGGGATGCGGGGGCTCGCGG	NM_014203	NP_055018	50270423	O95782	AP2A1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)	1	244	+	A	A		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	Silent	11						
AP2A2	0	broad.mit.edu	GRCh37	11	926039	926039	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-76-6285-01	TCGA-76-6285-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000448903.2:c.22delG	p.Asp8ThrfsTer23	p.D8Tfs*23	ENST00000448903	NM_012305.3	6	aaG/aa	0			1			-	K/X	uc001lss.2	protein_coding	YES	CCDS44512.1			18/2820										0	c.(16-18)AAGfs			hmmpanther:PTHR22780:SF24,hmmpanther:PTHR22780,Gene3D:1.25.10.10,PIRSF_domain:PIRSF037091	adaptor-related protein complex 2, alpha 2				ENSP00000413234		22-Jan										22-Jan	.		ENST00000448903	Transcript			axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	ENSG00000183020	g.chr11:926039delG	562	4		HIGH								--	--	1																																		AP2A2_uc001lst.1_Frame_Shift_Del_p.K6fs|AP2A2_uc009yco.1_RNA		1			p.K6fs	NM_012305	NP_036437				AP2A2_HUMAN	AP2A2	HGNC	O94973	AP2A2_HUMAN		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)	Q9UFK5_HUMAN,E9PS94_HUMAN,E9PQP4_HUMAN,E9PPZ3_HUMAN,E9PNC4_HUMAN		1	199	+		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	UPI0000124FF5	6			Lipid-binding.		deletion	AP2A2,frameshift_variant,p.Asp8ThrfsTer23,ENST00000448903,NM_012305.3,NM_001242837.1;AP2A2,frameshift_variant,p.Asp8ThrfsTer23,ENST00000332231,;AP2A2,frameshift_variant,p.Asp8ThrfsTer23,ENST00000534328,;AP2A2,intron_variant,,ENST00000525796,;AP2A2,non_coding_transcript_exon_variant,,ENST00000528195,;AP2A2,non_coding_transcript_exon_variant,,ENST00000529858,;AP2A2,intron_variant,,ENST00000529818,;AP2A2,frameshift_variant,p.Asp8ThrfsTer23,ENST00000528815,;	uc001lss.2	c.18delG	159/4575	5	5			c.18delG						11	DEL	c.(16-18)AAGfs	20	20				0	Broad	adaptor-related protein complex 2, alpha 2			926039		0.572	ENSG00000183020	725	g.chr11:926039delG	axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity																				0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			AP2A2_uc001lst.1_Frame_Shift_Del_p.K6fs|AP2A2_uc009yco.1_RNA	280	GBM-76-6285-TP	p.K6fs	G	CCGTGTCCAAGGGGGACGGGA	NM_012305	NP_036437	926039	O94973	AP2A2_HUMAN	0		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	199	+	-	-		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	Frame_Shift_Del	6			Lipid-binding.			
AP3B1	8546	broad.mit.edu	GRCh37	5	77311333	77311333	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0686-01	TCGA-06-0686-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255194.6:c.3032T>C	p.Ile1011Thr	p.I1011T	ENST00000255194		1011	aTt/aCt	0			1			G	I/T	uc003kfj.2	protein_coding	YES	CCDS4041.1			3032/3285									central_nervous_system(1)	1	c.(3031-3033)ATT>ACT			hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF10,PIRSF_domain:PIRSF037096,SMART_domains:SM01020	adaptor-related protein complex 3, beta 1				ENSP00000255194		26/27									COSM2151545	26/27	.	Hermansky-Pudlak_syndrome	ENST00000255194	Transcript	1		endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	ENSG00000132842	g.chr5:77311333A>G	566			MODERATE		-0.84	neutral	getma.org/?cm=msa&ty=f&p=AP3B1_HUMAN&rb=927&re=1094&var=I1011T	NA	getma.org/?cm=var&var=hg19,5,77311333,A,G&fts=all	I1011T	--	--	1																																			1	1		benign(0.152)	p.I1011T	NM_003664	NP_003655		tolerated(1)	1	AP3B1_HUMAN	AP3B1	HGNC	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	E5RJ68_HUMAN		26	3157	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	UPI00001AE77D	1011					SNV	AP3B1,missense_variant,p.Ile1011Thr,ENST00000255194,;AP3B1,missense_variant,p.Ile962Thr,ENST00000519295,NM_001271769.1,NM_003664.4;AP3B1,missense_variant,p.Ile111Thr,ENST00000522901,;AP3B1,non_coding_transcript_exon_variant,,ENST00000520122,;	uc003kfj.2	c.3032T>C	3208/5838	3	3			c.3032T>C						5	SNP	c.(3031-3033)ATT>ACT	57	57			central_nervous_system(1)	1	Broad	adaptor-related protein complex 3, beta 1			77311333	Hermansky-Pudlak_syndrome	0.383	ENSG00000132842	729	g.chr5:77311333A>G	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity							99.498496	KEEP	15	16	-1	23	11	15	16	-1	99.55624	23	11	0.466667	1	0	0	0	0	1	0	0	0	--	--		0	G				64	GBM-06-0686-TP	p.I1011T	A	TGGTGCAGCAATGATTACAGC	NM_003664	NP_003655	77311333	O00203	AP3B1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	26	3157	-	G	G		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	Missense_Mutation	1011						
AP3B1	0	broad.mit.edu	GRCh37	5	77473219	77473219	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-32-4213-01	TCGA-32-4213-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255194.6:c.984A>C	p.Pro328=	p.P328=	ENST00000255194		328	ccA/ccC	0			1			G	P	uc003kfj.2	protein_coding	YES	CCDS4041.1			984/3285									central_nervous_system(1)	1	c.(982-984)CCA>CCC			hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF10,Pfam_domain:PF01602,Gene3D:1.25.10.10,PIRSF_domain:PIRSF037096,Superfamily_domains:SSF48371	adaptor-related protein complex 3, beta 1				ENSP00000255194		27-Sep									COSM3748309	27-Sep	.	Hermansky-Pudlak_syndrome	ENST00000255194	Transcript	1		endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	ENSG00000132842	g.chr5:77473219T>G	566			LOW								--	--	1																																			1	1			p.P328P	NM_003664	NP_003655			1	AP3B1_HUMAN	AP3B1	HGNC	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	E5RJ68_HUMAN		9	1109	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	UPI00001AE77D	328					SNV	AP3B1,synonymous_variant,p.=,ENST00000255194,;AP3B1,synonymous_variant,p.=,ENST00000519295,NM_001271769.1,NM_003664.4;	uc003kfj.2	c.984A>C	1160/5838	3	3			c.984A>C						5	SNP	c.(982-984)CCA>CCC	61	61			central_nervous_system(1)	1	Broad	adaptor-related protein complex 3, beta 1			77473219	Hermansky-Pudlak_syndrome	0.348	ENSG00000132842	729	g.chr5:77473219T>G	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity							-35.448973	KEEP	2	3	-1	93	106	2	3	-1	6.939667	93	106	0.02381	1	0	0	0	0	0	0	1	0	--	--		0	G				247	GBM-32-4213-TP	p.P328P	T	CTTCAGATTTTGGTGATATGT	NM_003664	NP_003655	77473219	O00203	AP3B1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	9	1109	-	G	G		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	Silent	328						
AP3B1	0	broad.mit.edu	GRCh37	5	77477403	77477403	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6192-01	TCGA-76-6192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255194.6:c.870G>A	p.Pro290=	p.P290=	ENST00000255194		290	ccG/ccA	0			1			T	P	uc003kfj.2	protein_coding	YES	CCDS4041.1			870/3285									central_nervous_system(1)	1	c.(868-870)CCG>CCA			Low_complexity_(Seg):seg,hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF10,Pfam_domain:PF01602,PIRSF_domain:PIRSF037096	adaptor-related protein complex 3, beta 1				ENSP00000255194		27-Aug									rs566729844,COSM3410425	27-Aug	.	Hermansky-Pudlak_syndrome	ENST00000255194	Transcript	1		endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	ENSG00000132842	g.chr5:77477403C>T	566			LOW								--	--	1																																			0,1	1			p.P290P	NM_003664	NP_003655			0,1	AP3B1_HUMAN	AP3B1	HGNC	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	E5RJ68_HUMAN		8	995	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	UPI00001AE77D	290					SNV	AP3B1,synonymous_variant,p.=,ENST00000255194,;AP3B1,synonymous_variant,p.=,ENST00000519295,NM_001271769.1,NM_003664.4;	uc003kfj.2	c.870G>A	1046/5838	1	1			c.870G>A						5	SNP	c.(868-870)CCG>CCA	15	15			central_nervous_system(1)	1	Broad	adaptor-related protein complex 3, beta 1			77477403	Hermansky-Pudlak_syndrome	0.343	ENSG00000132842	729	g.chr5:77477403C>T	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity							40.669855	KEEP	11	5	-1	22	32	11	5	-1	44.305406	22	32	0.25	1	0	0	0	0	0	0	1	0	--	--		0	T				275	GBM-76-6192-TP	p.P290P	C	CCATAGTATACGGCTTCTTCT	NM_003664	NP_003655	77477403	O00203	AP3B1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	8	995	-	T	T		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	Silent	290						
AP3M2	10947	broad.mit.edu	GRCh37	8	42024775	42024776	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	GT			TCGA-06-0166-01	TCGA-06-0166-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000518421.1:c.897_898insGT	p.Thr300ValfsTer10	p.T300Vfs*10	ENST00000518421	NM_001134296.1	299	-/GT	0			1			GT	-/X	uc003xop.2	protein_coding		CCDS6125.1			897-898/1257										0	c.(895-900)CAGACGfs			PROSITE_profiles:PS51072,hmmpanther:PTHR11998:SF20,hmmpanther:PTHR11998,Pfam_domain:PF00928,Gene3D:2.60.40.1170,PIRSF_domain:PIRSF005992,Superfamily_domains:0038852	adaptor-related protein complex 3, mu 2 subunit				ENSP00000174653		9-Jul										9-Jul	.		ENST00000174653	Transcript			intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus		ENSG00000070718	g.chr8:42024775_42024776insGT	570			HIGH								--	--	1																																		AP3M2_uc003xoo.2_Frame_Shift_Ins_p.Q299fs|AP3M2_uc010lxe.2_Intron					p.Q299fs	NM_001134296	NP_001127768				AP3M2_HUMAN	AP3M2	HGNC	P53677	AP3M2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		H0YBM0_HUMAN,E5RJ52_HUMAN,E5RI83_HUMAN		8	1188_1189	+	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	UPI0000125033	299_300			MHD.		insertion	AP3M2,frameshift_variant,p.Thr300ValfsTer10,ENST00000518421,NM_001134296.1;AP3M2,frameshift_variant,p.Thr300ValfsTer10,ENST00000174653,NM_006803.3;AP3M2,frameshift_variant,p.Thr300ValfsTer10,ENST00000396926,;AP3M2,frameshift_variant,p.Thr185ValfsTer10,ENST00000521280,;AP3M2,downstream_gene_variant,,ENST00000517922,;AP3M2,downstream_gene_variant,,ENST00000517499,;AP3M2,upstream_gene_variant,,ENST00000522606,;AP3M2,intron_variant,,ENST00000520685,;AP3M2,non_coding_transcript_exon_variant,,ENST00000522320,;AP3M2,intron_variant,,ENST00000530375,;AP3M2,downstream_gene_variant,,ENST00000517865,;AP3M2,upstream_gene_variant,,ENST00000520689,;AP3M2,downstream_gene_variant,,ENST00000523249,;AP3M2,downstream_gene_variant,,ENST00000521899,;	uc003xop.2	c.897_898insGT	1179-1180/3661	5	5			c.897_898insGT						8	INS	c.(895-900)CAGACGfs	1	1				0	Broad	adaptor-related protein complex 3, mu 2 subunit			42024776		0.515	ENSG00000070718	733	g.chr8:42024775_42024776insGT	intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus																					0.08	1	0	0	1	1	0	0	0	0	--	--		0	GT			AP3M2_uc003xoo.2_Frame_Shift_Ins_p.Q299fs|AP3M2_uc010lxe.2_Intron	31	GBM-06-0166-TP	p.Q299fs	-	GACCCAAGCAGACGATGGGGAA	NM_001134296	NP_001127768	42024775	P53677	AP3M2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		8	1188_1189	+	GT	GT	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Frame_Shift_Ins	299_300			MHD.			
AP3S1	1176	broad.mit.edu	GRCh37	5	115249179	115249179	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0154-01	TCGA-06-0154-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316788.7:c.574T>C	p.Phe192Leu	p.F192L	ENST00000316788	NM_001284.2	192	Ttt/Ctt	0			1			C	F/L	uc003krl.2	protein_coding	YES	CCDS4123.1			574/582										0	c.(574-576)TTT>CTT				adaptor-related protein complex 3, sigma 1				ENSP00000325369		6-Jun									COSM3409672	6-Jun	.		ENST00000316788	Transcript			insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity	ENSG00000177879	g.chr5:115249179T>C	2013			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=AP3S1_HUMAN&rb=149&re=193&var=F192L	NA	getma.org/?cm=var&var=hg19,5,115249179,T,C&fts=all	F192L	--	--	1																																		AP3S1_uc003krk.2_Missense_Mutation_p.F170L|AP3S1_uc003krm.2_Missense_Mutation_p.F156L	1	1		benign(0.003)	p.F192L	NM_001284	NP_001275		tolerated_low_confidence(0.22)	1	AP3S1_HUMAN	AP3S1	HGNC	Q92572	AP3S1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)			6	690	+		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	UPI000002236E	192					SNV	AP3S1,missense_variant,p.Phe192Leu,ENST00000316788,NM_001284.2;AP3S1,non_coding_transcript_exon_variant,,ENST00000505423,;AP3S1,non_coding_transcript_exon_variant,,ENST00000395548,;AP3S1,downstream_gene_variant,,ENST00000506430,;	uc003krl.2	c.574T>C	1131/1730	3	3			c.574T>C						5	SNP	c.(574-576)TTT>CTT	63	63				0	Broad	adaptor-related protein complex 3, sigma 1			115249179		0.393	ENSG00000177879	734	g.chr5:115249179T>C	insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity							118.822439	KEEP	17	30	-1	124	99	17	30	-1	140.35339	124	99	0.183406	1	0	0	0	0	1	0	0	0	--	--		0	C			AP3S1_uc003krk.2_Missense_Mutation_p.F170L|AP3S1_uc003krm.2_Missense_Mutation_p.F156L	26	GBM-06-0154-TP	p.F192L	T	CCTGCCCTCTTTTAAATAAAA	NM_001284	NP_001275	115249179	Q92572	AP3S1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)	6	690	+	C	C		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	Missense_Mutation	192						
AP3S1	0	broad.mit.edu	GRCh37	5	115202418	115202421	+	frameshift_variant	Frame_Shift_Del	DEL	AAGA	AAGA	-	rs80118146		TCGA-14-1456-01	TCGA-14-1456-01	AAGA	AAGA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316788.7:c.121_124delAAGA	p.Lys41GlufsTer9	p.K41Efs*9	ENST00000316788	NM_001284.2	41	AAGAga/ga	0			1			-	KR/X	uc003krl.2	protein_coding	YES	CCDS4123.1			121-124/582										0	c.(121-126)AAGAGAfs			hmmpanther:PTHR11753:SF12,hmmpanther:PTHR11753,Pfam_domain:PF01217,Gene3D:3.30.450.60,PIRSF_domain:PIRSF015588,Superfamily_domains:SSF64356	adaptor-related protein complex 3, sigma 1				ENSP00000325369		6-Feb	0.0337	0.0198	0.0152	0.0166	0.0196	0.0226	0.0444	0.0775	rs80118146,COSM1319295	6-Feb	common_variant		ENST00000316788	Transcript			insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity	ENSG00000177879	g.chr5:115202418_115202421delAAGA	2013			HIGH								--	--	1																																		AP3S1_uc003krk.2_Frame_Shift_Del_p.K19fs|AP3S1_uc003krm.2_Frame_Shift_Del_p.K41fs	0,1	1			p.K41fs	NM_001284	NP_001275			0,1	AP3S1_HUMAN	AP3S1	HGNC	Q92572	AP3S1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)			2	237_240	+		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	UPI000002236E	41_42					deletion	AP3S1,frameshift_variant,p.Lys41GlufsTer9,ENST00000316788,NM_001284.2;AP3S1,non_coding_transcript_exon_variant,,ENST00000514118,;AP3S1,frameshift_variant,p.Lys41GlufsTer9,ENST00000506430,;AP3S1,non_coding_transcript_exon_variant,,ENST00000515066,;AP3S1,non_coding_transcript_exon_variant,,ENST00000395548,;AP3S1,non_coding_transcript_exon_variant,,ENST00000509055,;AP3S1,non_coding_transcript_exon_variant,,ENST00000507436,;	uc003krl.2	c.121_124delAAGA	678-681/1730	5	5			c.121_124delAAGA						5	DEL	c.(121-126)AAGAGAfs	28	28				0	Broad	adaptor-related protein complex 3, sigma 1			115202421		0.304	ENSG00000177879	734	g.chr5:115202418_115202421delAAGA	insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity																				0.12	1	1	0	1	0	0	0	0	0	--	--		0	-			AP3S1_uc003krk.2_Frame_Shift_Del_p.K19fs|AP3S1_uc003krm.2_Frame_Shift_Del_p.K41fs	146	GBM-14-1456-TP	p.K41fs	AAGA	TTTGGTATCTAAGAGAGATGAAAA	NM_001284	NP_001275	115202418	Q92572	AP3S1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)	2	237_240	+	-	-		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	Frame_Shift_Del	41_42						
AP3S1	0	broad.mit.edu	GRCh37	5	115177778	115177778	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2523-01	TCGA-27-2523-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316788.7:c.44G>A	p.Arg15Gln	p.R15Q	ENST00000316788	NM_001284.2	15	cGg/cAg	0			1			A	R/Q	uc003krl.2	protein_coding	YES	CCDS4123.1			44/582										0	c.(43-45)CGG>CAG			hmmpanther:PTHR11753:SF12,hmmpanther:PTHR11753,Pfam_domain:PF01217,Gene3D:3.30.450.60,PIRSF_domain:PIRSF015588,Superfamily_domains:SSF64356	adaptor-related protein complex 3, sigma 1				ENSP00000325369		6-Jan									COSM3409671	6-Jan	.		ENST00000316788	Transcript			insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity	ENSG00000177879	g.chr5:115177778G>A	2013			MODERATE		3.81	high	getma.org/?cm=msa&ty=f&p=AP3S1_HUMAN&rb=1&re=148&var=R15Q	getma.org/pdb.php?prot=AP3S1_HUMAN&from=1&to=148&var=R15Q	getma.org/?cm=var&var=hg19,5,115177778,G,A&fts=all	R15Q	--	--	1																																		AP3S1_uc003krk.2_5'UTR|AP3S1_uc003krm.2_Missense_Mutation_p.R15Q|ATG12_uc003krh.2_5'Flank|ATG12_uc003kri.2_5'Flank|ATG12_uc003krj.2_5'Flank	1	1		possibly_damaging(0.891)	p.R15Q	NM_001284	NP_001275		deleterious(0.03)	1	AP3S1_HUMAN	AP3S1	HGNC	Q92572	AP3S1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)			1	160	+		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	UPI000002236E	15					SNV	AP3S1,missense_variant,p.Arg15Gln,ENST00000316788,NM_001284.2;ATG12,upstream_gene_variant,,ENST00000509910,;ATG12,upstream_gene_variant,,ENST00000274459,NM_004707.3;ATG12,upstream_gene_variant,,ENST00000500945,NM_001277783.1;AP3S1,intron_variant,,ENST00000514118,;ATG12,upstream_gene_variant,,ENST00000509598,;ATG12,upstream_gene_variant,,ENST00000514775,;AP3S1,missense_variant,p.Arg15Gln,ENST00000506430,;AP3S1,non_coding_transcript_exon_variant,,ENST00000515066,;AP3S1,non_coding_transcript_exon_variant,,ENST00000395548,;ATG12,upstream_gene_variant,,ENST00000513322,;ATG12,upstream_gene_variant,,ENST00000508464,;ATG12,upstream_gene_variant,,ENST00000379594,;ATG12,upstream_gene_variant,,ENST00000505993,;ATG12,upstream_gene_variant,,ENST00000513167,;ATG12,upstream_gene_variant,,ENST00000511984,;AP3S1,upstream_gene_variant,,ENST00000509055,;	uc003krl.2	c.44G>A	601/1730	2	2			c.44G>A						5	SNP	c.(43-45)CGG>CAG	30	30				0	Broad	adaptor-related protein complex 3, sigma 1			115177778		0.692	ENSG00000177879	734	g.chr5:115177778G>A	insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity							23.729753	KEEP	5	2	-1	0	3	5	2	-1	24.368652	0	3	0.777778	1	0	0	0	0	1	0	0	0	--	--		0	A			AP3S1_uc003krk.2_5'UTR|AP3S1_uc003krm.2_Missense_Mutation_p.R15Q|ATG12_uc003krh.2_5'Flank|ATG12_uc003kri.2_5'Flank|ATG12_uc003krj.2_5'Flank	201	GBM-27-2523-TP	p.R15Q	G	GGGAAGCCGCGGCTCTCCAAG	NM_001284	NP_001275	115177778	Q92572	AP3S1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)	1	160	+	A	A		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	Missense_Mutation	15						
AP4M1	0	broad.mit.edu	GRCh37	7	99702962	99702962	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-28-5219-01	TCGA-28-5219-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359593.4:c.827A>T	p.Gln276Leu	p.Q276L	ENST00000359593	NM_004722.3	276	cAg/cTg	0			1			T	Q/L	uc003utb.3	protein_coding	YES	CCDS5685.1			827/1362										0	c.(826-828)CAG>CTG			PROSITE_profiles:PS51072,hmmpanther:PTHR11998,hmmpanther:PTHR11998:SF13,PROSITE_patterns:PS00991,Pfam_domain:PF00928,Gene3D:2.60.40.1170,PIRSF_domain:PIRSF005992,Superfamily_domains:0038852,Prints_domain:PR00314	adaptor-related protein complex 4, mu 1 subunit				ENSP00000352603		15-Oct									COSM3412583	15-Oct	.		ENST00000359593	Transcript	1		intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity	ENSG00000221838	g.chr7:99702962A>T	574			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=AP4M1_HUMAN&rb=173&re=453&var=Q276L	getma.org/pdb.php?prot=AP4M1_HUMAN&from=173&to=453&var=Q276L	getma.org/?cm=var&var=hg19,7,99702962,A,T&fts=all	Q276L	--	--	1																																		AP4M1_uc011kjg.1_Missense_Mutation_p.Q230L|AP4M1_uc010lgl.1_Missense_Mutation_p.Q276L|AP4M1_uc003utc.3_Missense_Mutation_p.Q283L|AP4M1_uc010lgm.2_Missense_Mutation_p.Q148L|AP4M1_uc003utd.2_Missense_Mutation_p.Q276L|AP4M1_uc011kjh.1_Missense_Mutation_p.Q228L|AP4M1_uc003ute.3_Missense_Mutation_p.Q51L|AP4M1_uc003utf.3_Missense_Mutation_p.Q148L	1	1		possibly_damaging(0.728)	p.Q276L	NM_004722	NP_004713		deleterious(0.03)	1	AP4M1_HUMAN	AP4M1	HGNC	O00189	AP4M1_HUMAN			C9IZL5_HUMAN,B4DKN7_HUMAN		10	1035	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		UPI000006D1C7	276			MHD.		SNV	AP4M1,missense_variant,p.Gln283Leu,ENST00000429084,;AP4M1,missense_variant,p.Gln276Leu,ENST00000359593,NM_004722.3;AP4M1,missense_variant,p.Gln148Leu,ENST00000422582,;AP4M1,missense_variant,p.Gln276Leu,ENST00000421755,;AP4M1,missense_variant,p.Gln208Leu,ENST00000438383,;AP4M1,missense_variant,p.Gln232Leu,ENST00000439416,;AP4M1,missense_variant,p.Gln2Leu,ENST00000445295,;AP4M1,missense_variant,p.Gln28Leu,ENST00000450807,;MCM7,upstream_gene_variant,,ENST00000303887,NM_001278595.1,NM_005916.4;MCM7,upstream_gene_variant,,ENST00000354230,NM_182776.2;TAF6,downstream_gene_variant,,ENST00000344095,NM_005641.3;TAF6,downstream_gene_variant,,ENST00000418432,;TAF6,downstream_gene_variant,,ENST00000472509,;TAF6,downstream_gene_variant,,ENST00000453269,NM_139315.2;TAF6,downstream_gene_variant,,ENST00000437822,NM_001190415.1;TAF6,downstream_gene_variant,,ENST00000452041,;MCM7,upstream_gene_variant,,ENST00000343023,;MCM7,upstream_gene_variant,,ENST00000425308,;AP4M1,downstream_gene_variant,,ENST00000478501,;AP4M1,downstream_gene_variant,,ENST00000495154,;AP4M1,3_prime_UTR_variant,,ENST00000416938,;AP4M1,3_prime_UTR_variant,,ENST00000445208,;AP4M1,3_prime_UTR_variant,,ENST00000446007,;AP4M1,non_coding_transcript_exon_variant,,ENST00000463195,;AP4M1,non_coding_transcript_exon_variant,,ENST00000479916,;MCM7,upstream_gene_variant,,ENST00000485286,;TAF6,downstream_gene_variant,,ENST00000421980,;MCM7,upstream_gene_variant,,ENST00000489841,;MCM7,upstream_gene_variant,,ENST00000463722,;AP4M1,downstream_gene_variant,,ENST00000394061,;MCM7,upstream_gene_variant,,ENST00000467516,;AP4M1,upstream_gene_variant,,ENST00000489387,;MCM7,upstream_gene_variant,,ENST00000465688,;MCM7,upstream_gene_variant,,ENST00000465738,;TAF6,downstream_gene_variant,,ENST00000487115,;	uc003utb.3	c.827A>T	985/1817	1	1			c.827A>T						7	SNP	c.(826-828)CAG>CTG	4	4				0	Broad	adaptor-related protein complex 4, mu 1 subunit			99702962		0.552	ENSG00000221838	738	g.chr7:99702962A>T	intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity	Pancreas(174;1182 2812 29595 49511)			Pancreas(174;1182 2812 29595 49511)			-42.2916	KEEP	6	8	-1	144	169	6	8	-1	25.626212	144	169	0.042904	1	0	0	0	0	1	0	0	0	--	--		0	T			AP4M1_uc011kjg.1_Missense_Mutation_p.Q230L|AP4M1_uc010lgl.1_Missense_Mutation_p.Q276L|AP4M1_uc003utc.3_Missense_Mutation_p.Q283L|AP4M1_uc010lgm.2_Missense_Mutation_p.Q148L|AP4M1_uc003utd.2_Missense_Mutation_p.Q276L|AP4M1_uc011kjh.1_Missense_Mutation_p.Q228L|AP4M1_uc003ute.3_Missense_Mutation_p.Q51L|AP4M1_uc003utf.3_Missense_Mutation_p.Q148L	225	GBM-28-5219-TP	p.Q276L	A	CAACCACCTCAGGGCGAGGTC	NM_004722	NP_004713	99702962	O00189	AP4M1_HUMAN	0			10	1035	+	T	T	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		Missense_Mutation	276			MHD.			
AP5M1	0	broad.mit.edu	GRCh37	14	57741370	57741370	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01	TCGA-14-3476-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261558.3:c.483C>A	p.Asp161Glu	p.D161E	ENST00000261558	NM_018229.3	161	gaC/gaA	0			1			A	D/E	uc001xcv.2	protein_coding	YES	CCDS9729.1			483/1473									ovary(1)	1	c.(481-483)GAC>GAA			hmmpanther:PTHR16082,hmmpanther:PTHR16082:SF2	Mu-2 related death-inducing protein				ENSP00000261558		8-Feb	8.24E-06	0.0001							rs765168440,COSM3401361	8-Feb	.		ENST00000261558	Transcript			intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex		ENSG00000053770	g.chr14:57741370C>A	20192			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=AP5M1_HUMAN&rb=1&re=200&var=D161E	NA	getma.org/?cm=var&var=hg19,14,57741370,C,A&fts=all	D161E	--	--	1																																		MUDENG_uc001xcu.3_Missense_Mutation_p.D161E|MUDENG_uc010tri.1_Intron|MUDENG_uc010trj.1_Missense_Mutation_p.D58E	0,1	1		benign(0.002)	p.D161E	NM_018229	NP_060699		tolerated(0.73)	0,1	AP5M1_HUMAN	AP5M1	HGNC	Q9H0R1	MUDEN_HUMAN			H0YIY0_HUMAN,G3V573_HUMAN		2	910	+			UPI00000719DE	161					SNV	AP5M1,missense_variant,p.Asp161Glu,ENST00000261558,NM_018229.3;AP5M1,missense_variant,p.Asp175Glu,ENST00000431972,;AP5M1,missense_variant,p.Asp58Glu,ENST00000556995,;AP5M1,upstream_gene_variant,,ENST00000556723,;AP5M1,downstream_gene_variant,,ENST00000554213,;AP5M1,non_coding_transcript_exon_variant,,ENST00000554931,;AP5M1,intron_variant,,ENST00000555448,;	uc001xcv.2	c.483C>A	889/3074	1	1			c.483C>A						14	SNP	c.(481-483)GAC>GAA	64	64			ovary(1)	1	Broad	Mu-2 related death-inducing protein			57741370		0.368	ENSG00000053770	9801	g.chr14:57741370C>A	intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex								-24.995372	KEEP	3	1	0.25	64	82	3	1	0.25	6.489943	64	82	0.024	1	0	0	0	0	1	0	0	0	--	--		0	A			MUDENG_uc001xcu.3_Missense_Mutation_p.D161E|MUDENG_uc010tri.1_Intron|MUDENG_uc010trj.1_Missense_Mutation_p.D58E	151	GBM-14-3476-TP	p.D161E	C	AGTTGCCTGACTTGCTTCTGC	NM_018229	NP_060699	57741370	Q9H0R1	MUDEN_HUMAN	0			2	910	+	A	A			Missense_Mutation	161						
AP5Z1	0	broad.mit.edu	GRCh37	7	4820908	4820908	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2632-01	TCGA-32-2632-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000348624.4:c.144C>T	p.Leu48=	p.L48=	ENST00000348624	NM_014855.2	48	ctC/ctT	0			1			T	L	uc003sne.2	protein_coding	YES	CCDS47528.1			144/2424									central_nervous_system(1)	1	c.(142-144)CTC>CTT			hmmpanther:PTHR12181:SF29,hmmpanther:PTHR12181	hypothetical protein LOC9907				ENSP00000297562		17-Feb									COSM3412116	17-Feb	.		ENST00000348624	Transcript	1		cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	ENSG00000242802	g.chr7:4820908C>T	22197			LOW								--	--	1																																		KIAA0415_uc010ksp.2_RNA	1	1			p.L48L	NM_014855	NP_055670			1	AP5Z1_HUMAN	AP5Z1	HGNC	O43299	K0415_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)	A4D1Z4_HUMAN		2	227	+		Ovarian(82;0.0175)	UPI00003E5903	48					SNV	AP5Z1,synonymous_variant,p.=,ENST00000348624,NM_014855.2;AP5Z1,synonymous_variant,p.=,ENST00000401897,;AP5Z1,non_coding_transcript_exon_variant,,ENST00000496303,;AP5Z1,intron_variant,,ENST00000477680,;AP5Z1,upstream_gene_variant,,ENST00000491375,;	uc003sne.2	c.144C>T	238/2901	2	2			c.144C>T						7	SNP	c.(142-144)CTC>CTT	32	32			central_nervous_system(1)	1	Broad	hypothetical protein LOC9907			4820908		0.632	ENSG00000242802	8036	g.chr7:4820908C>T	cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding							62.862025	KEEP	15	12	-1	51	43	15	12	-1	69.388775	51	43	0.235294	1	0	0	0	0	0	0	1	0	--	--		0	T			KIAA0415_uc010ksp.2_RNA	240	GBM-32-2632-TP	p.L48L	C	TGCAGAGGCTCTTCCTCATCA	NM_014855	NP_055670	4820908	O43299	K0415_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)	2	227	+	T	T		Ovarian(82;0.0175)	Silent	48						
APBA1	320	broad.mit.edu	GRCh37	9	72130983	72130983	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0152-01	TCGA-06-0152-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265381.4:c.1144C>T	p.Arg382Cys	p.R382C	ENST00000265381	NM_001163.3	382	Cgc/Tgc	0			1			A	R/C	uc004ahh.2	protein_coding	YES	CCDS6630.1			1144/2514									lung(1)	1	c.(1144-1146)CGC>TGC			hmmpanther:PTHR12345:SF14,hmmpanther:PTHR12345	amyloid beta A4 precursor protein-binding,				ENSP00000265381		13-Feb									COSM3413697	13-Feb	.		ENST00000265381	Transcript			axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		ENSG00000107282	g.chr9:72130983G>A	578			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=APBA1_HUMAN&rb=201&re=400&var=R382C	NA	getma.org/?cm=var&var=hg19,9,72130983,G,A&fts=all	R382C	--	--	1																																			1	1		probably_damaging(0.998)	p.R382C	NM_001163	NP_001154		deleterious(0)	1	APBA1_HUMAN	APBA1	HGNC	Q02410	APBA1_HUMAN					2	1420	-			UPI000013D611	382			LIN-2/CASK binding.|Pro-rich.		SNV	APBA1,missense_variant,p.Arg382Cys,ENST00000265381,NM_001163.3;	uc004ahh.2	c.1144C>T	1367/6534	2	2			c.1144C>T						9	SNP	c.(1144-1146)CGC>TGC	47	47			lung(1)	1	Broad	amyloid beta A4 precursor protein-binding,			72130983		0.622	ENSG00000107282	741	g.chr9:72130983G>A	axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle								-43.197045	KEEP	4	2	-1	115	113	4	2	-1	7.438104	115	113	0.024752	1	0	0	0	0	1	0	0	0	--	--		0	A				25	GBM-06-0152-TP	p.R382C	G	ATGTCCTGGCGCATGACCCAG	NM_001163	NP_001154	72130983	Q02410	APBA1_HUMAN	0			2	1420	-	A	A			Missense_Mutation	382			LIN-2/CASK binding.|Pro-rich.			
APBA1	0	broad.mit.edu	GRCh37	9	72131360	72131360	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265381.4:c.767C>T	p.Ala256Val	p.A256V	ENST00000265381	NM_001163.3	256	gCg/gTg	0			1			A	A/V	uc004ahh.2	protein_coding	YES	CCDS6630.1			767/2514									lung(1)	1	c.(766-768)GCG>GTG			hmmpanther:PTHR12345:SF14,hmmpanther:PTHR12345	amyloid beta A4 precursor protein-binding,				ENSP00000265381		13-Feb									rs199962660,COSM2155190	13-Feb	.		ENST00000265381	Transcript			axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		ENSG00000107282	g.chr9:72131360G>A	578			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=APBA1_HUMAN&rb=201&re=400&var=A256V	NA	getma.org/?cm=var&var=hg19,9,72131360,G,A&fts=all	A256V	--	--	1																																			0,1	1		possibly_damaging(0.814)	p.A256V	NM_001163	NP_001154		deleterious_low_confidence(0.04)	0,1	APBA1_HUMAN	APBA1	HGNC	Q02410	APBA1_HUMAN					2	1043	-			UPI000013D611	256			Munc-18-1 binding.		SNV	APBA1,missense_variant,p.Ala256Val,ENST00000265381,NM_001163.3;	uc004ahh.2	c.767C>T	990/6534	1	1			c.767C>T						9	SNP	c.(766-768)GCG>GTG	64	64			lung(1)	1	Broad	amyloid beta A4 precursor protein-binding,			72131360		0.682	ENSG00000107282	741	g.chr9:72131360G>A	axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle								27.222031	KEEP	7	8	-1	15	27	7	8	-1	29.709806	15	27	0.25	1	0	0	0	0	1	0	0	0	--	--		0	A				142	GBM-14-1034-TP	p.A256V	G	CGGGTAGGGCGCGAACTCGGC	NM_001163	NP_001154	72131360	Q02410	APBA1_HUMAN	0			2	1043	-	A	A			Missense_Mutation	256			Munc-18-1 binding.			
APBA3	9546	broad.mit.edu	GRCh37	19	3759564	3759564	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-2563-01	TCGA-06-2563-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316757.3:c.611A>G	p.Gln204Arg	p.Q204R	ENST00000316757	NM_004886.3	204	cAg/cGg	0			1			C	Q/R	uc002lyp.1	protein_coding	YES	CCDS12110.1			611/1728										0	c.(610-612)CAG>CGG			hmmpanther:PTHR12345,hmmpanther:PTHR12345:SF9	amyloid beta (A4) precursor protein-binding,				ENSP00000315136		11-Mar									COSM3748055	11-Mar	.		ENST00000316757	Transcript			intracellular signal transduction|protein transport	intracellular|membrane	protein binding	ENSG00000011132	g.chr19:3759564T>C	580			MODERATE		0.49	neutral	getma.org/?cm=msa&ty=f&p=APBA3_HUMAN&rb=171&re=250&var=Q204R	NA	getma.org/?cm=var&var=hg19,19,3759564,T,C&fts=all	Q204R	--	--	1																																			1	1		benign(0.003)	p.Q204R	NM_004886	NP_004877		tolerated(0.48)	1	APBA3_HUMAN	APBA3	HGNC	O96018	APBA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)	Q9UPY9_HUMAN		3	788	-		Hepatocellular(1079;0.137)	UPI0000125C0D	204					SNV	APBA3,missense_variant,p.Gln204Arg,ENST00000316757,NM_004886.3;MRPL54,upstream_gene_variant,,ENST00000330133,NM_172251.2;MRPL54,upstream_gene_variant,,ENST00000589174,;AC005954.4,downstream_gene_variant,,ENST00000586503,;AC005954.3,upstream_gene_variant,,ENST00000591962,;APBA3,non_coding_transcript_exon_variant,,ENST00000590238,;APBA3,upstream_gene_variant,,ENST00000590064,;APBA3,upstream_gene_variant,,ENST00000588984,;APBA3,downstream_gene_variant,,ENST00000589934,;	uc002lyp.1	c.611A>G	812/2075	4	4			c.611A>G						19	SNP	c.(610-612)CAG>CGG	39	39				0	Broad	amyloid beta (A4) precursor protein-binding,			3759564		0.632	ENSG00000011132	743	g.chr19:3759564T>C	intracellular signal transduction|protein transport	intracellular|membrane	protein binding							9.987237	KEEP	2	3	-1	11	9	2	3	-1	12.294061	11	9	0.173913	1	0	0	0	0	1	0	0	0	--	--		0	C				86	GBM-06-2563-TP	p.Q204R	T	CTCACCCTCCTGGGGGGCAGG	NM_004886	NP_004877	3759564	O96018	APBA3_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)	3	788	-	C	C		Hepatocellular(1079;0.137)	Missense_Mutation	204						
APBB1	0	broad.mit.edu	GRCh37	11	6424912	6424912	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01	TCGA-14-1825-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000609360.1:c.862C>T	p.Pro288Ser	p.P288S	ENST00000609360	NM_001164.3	288	Ccc/Tcc	0			1			A	P/S	uc001mdb.1	protein_coding		CCDS66018.1			862/2133									breast(2)	2	c.(862-864)CCC>TCC			Low_complexity_(Seg):seg,hmmpanther:PTHR14058:SF5,hmmpanther:PTHR14058	amyloid beta A4 precursor protein-binding,				ENSP00000477213		15-Mar									COSM3398014	15-Mar	.		ENST00000609360	Transcript			apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	ENSG00000166313	g.chr11:6424912G>A	581			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=APBB1_HUMAN&rb=284&re=369&var=P288S	NA	getma.org/?cm=var&var=hg19,11,6424912,G,A&fts=all	P288S	--	--	1																																		APBB1_uc001mcz.1_5'Flank|APBB1_uc001mdd.3_Missense_Mutation_p.P68S|APBB1_uc001mda.2_Intron|APBB1_uc001mdc.1_Missense_Mutation_p.P288S|APBB1_uc010rab.1_5'Flank|APBB1_uc010rac.1_5'Flank|APBB1_uc010rad.1_5'Flank|APBB1_uc010rae.1_Missense_Mutation_p.P53S|APBB1_uc010raf.1_Missense_Mutation_p.P29S|APBB1_uc009yfa.2_Missense_Mutation_p.P29S|APBB1_uc009yey.2_Missense_Mutation_p.P29S|APBB1_uc010rag.1_Missense_Mutation_p.P29S|APBB1_uc009yfb.2_Missense_Mutation_p.P29S|APBB1_uc001mde.2_Missense_Mutation_p.P29S|APBB1_uc010rah.1_Missense_Mutation_p.P29S	1			benign(0.024)	p.P288S	NM_001164	NP_001155		tolerated(0.34)	1		APBB1	HGNC	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	B7Z1L0_HUMAN		3	962	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	UPI000012510B	288					SNV	APBB1,missense_variant,p.Pro288Ser,ENST00000609360,NM_001164.3;APBB1,missense_variant,p.Pro288Ser,ENST00000389906,;APBB1,missense_variant,p.Pro288Ser,ENST00000299402,;APBB1,missense_variant,p.Pro288Ser,ENST00000311051,NM_145689.1;APBB1,missense_variant,p.Pro29Ser,ENST00000608394,NM_001257321.1;APBB1,missense_variant,p.Pro29Ser,ENST00000608704,NM_001257320.1,NM_001257326.1;APBB1,missense_variant,p.Pro29Ser,ENST00000608645,;APBB1,missense_variant,p.Pro68Ser,ENST00000608655,NM_001257319.1;APBB1,missense_variant,p.Pro68Ser,ENST00000530885,NM_001257323.1;APBB1,missense_variant,p.Pro53Ser,ENST00000609331,NM_001257325.1;APBB1,missense_variant,p.Pro29Ser,ENST00000529890,;APBB1,missense_variant,p.Pro29Ser,ENST00000532020,;APBB1,intron_variant,,ENST00000529519,;APBB1,missense_variant,p.Pro288Ser,ENST00000608435,;APBB1,non_coding_transcript_exon_variant,,ENST00000533407,;APBB1,non_coding_transcript_exon_variant,,ENST00000526925,;APBB1,non_coding_transcript_exon_variant,,ENST00000534188,;APBB1,non_coding_transcript_exon_variant,,ENST00000533139,;APBB1,upstream_gene_variant,,ENST00000524626,;APBB1,upstream_gene_variant,,ENST00000529778,;	uc001mdb.1	c.862C>T	962/2642	2	2			c.862C>T						11	SNP	c.(862-864)CCC>TCC	35	35			breast(2)	2	Broad	amyloid beta A4 precursor protein-binding,			6424912		0.652	ENSG00000166313	744	g.chr11:6424912G>A	apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	GBM(147;1810 2556 5672 39622)			GBM(147;1810 2556 5672 39622)			148.484316	KEEP	25	26	-1	50	35	25	26	-1	149.864916	50	35	0.387097	1	0	0	0	0	1	0	0	0	--	--		0	A			APBB1_uc001mcz.1_5'Flank|APBB1_uc001mdd.3_Missense_Mutation_p.P68S|APBB1_uc001mda.2_Intron|APBB1_uc001mdc.1_Missense_Mutation_p.P288S|APBB1_uc010rab.1_5'Flank|APBB1_uc010rac.1_5'Flank|APBB1_uc010rad.1_5'Flank|APBB1_uc010rae.1_Missense_Mutation_p.P53S|APBB1_uc010raf.1_Missense_Mutation_p.P29S|APBB1_uc009yfa.2_Missense_Mutation_p.P29S|APBB1_uc009yey.2_Missense_Mutation_p.P29S|APBB1_uc010rag.1_Missense_Mutation_p.P29S|APBB1_uc009yfb.2_Missense_Mutation_p.P29S|APBB1_uc001mde.2_Missense_Mutation_p.P29S|APBB1_uc010rah.1_Missense_Mutation_p.P29S	148	GBM-14-1825-TP	p.P288S	G	CCCTGTGAGGGGGAGGCCCGG	NM_001164	NP_001155	6424912	O00213	APBB1_HUMAN	0		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	3	962	-	A	A		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	Missense_Mutation	288						
APBB1	0	broad.mit.edu	GRCh37	11	6423823	6423823	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-5208-01	TCGA-28-5208-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000609360.1:c.1237T>C	p.Ser413Pro	p.S413P	ENST00000609360	NM_001164.3	413	Tct/Cct	0			1			G	S/P	uc001mdb.1	protein_coding		CCDS66018.1			1237/2133									breast(2)	2	c.(1237-1239)TCT>CCT			PROSITE_profiles:PS01179,hmmpanther:PTHR14058:SF5,hmmpanther:PTHR14058,Gene3D:2.30.29.30,Pfam_domain:PF00640,SMART_domains:SM00462,Superfamily_domains:SSF50729	amyloid beta A4 precursor protein-binding,				ENSP00000477213		15-Jul									COSM3747892	15-Jul	.		ENST00000609360	Transcript			apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	ENSG00000166313	g.chr11:6423823A>G	581			MODERATE		-0.55	neutral	getma.org/?cm=msa&ty=f&p=APBB1_HUMAN&rb=370&re=509&var=S413P	getma.org/pdb.php?prot=APBB1_HUMAN&from=370&to=509&var=S413P	getma.org/?cm=var&var=hg19,11,6423823,A,G&fts=all	S413P	--	--	1																																		APBB1_uc001mcz.1_Missense_Mutation_p.S34P|APBB1_uc001mdd.3_Missense_Mutation_p.S193P|APBB1_uc001mda.2_Intron|APBB1_uc001mdc.1_Missense_Mutation_p.S413P|APBB1_uc010rab.1_5'Flank|APBB1_uc010rac.1_5'Flank|APBB1_uc010rad.1_Missense_Mutation_p.S34P|APBB1_uc010rae.1_Missense_Mutation_p.S178P|APBB1_uc010raf.1_Missense_Mutation_p.S154P|APBB1_uc009yfa.2_Missense_Mutation_p.S154P|APBB1_uc009yey.2_Missense_Mutation_p.S154P|APBB1_uc010rag.1_Missense_Mutation_p.S154P|APBB1_uc009yfb.2_Missense_Mutation_p.S154P|APBB1_uc001mde.2_Missense_Mutation_p.S154P|APBB1_uc010rah.1_Missense_Mutation_p.S154P	1			benign(0.002)	p.S413P	NM_001164	NP_001155		tolerated(0.19)	1		APBB1	HGNC	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	B7Z1L0_HUMAN		7	1337	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	UPI000012510B	413			PID 1.		SNV	APBB1,missense_variant,p.Ser413Pro,ENST00000389906,;APBB1,missense_variant,p.Ser413Pro,ENST00000609360,NM_001164.3;APBB1,missense_variant,p.Ser413Pro,ENST00000299402,;APBB1,missense_variant,p.Ser413Pro,ENST00000311051,NM_145689.1;APBB1,missense_variant,p.Ser154Pro,ENST00000608394,NM_001257321.1;APBB1,missense_variant,p.Ser154Pro,ENST00000608704,NM_001257320.1,NM_001257326.1;APBB1,missense_variant,p.Ser154Pro,ENST00000608645,;APBB1,missense_variant,p.Ser193Pro,ENST00000608655,NM_001257319.1;APBB1,missense_variant,p.Ser193Pro,ENST00000530885,NM_001257323.1;APBB1,missense_variant,p.Ser178Pro,ENST00000609331,NM_001257325.1;APBB1,missense_variant,p.Ser154Pro,ENST00000529890,;APBB1,intron_variant,,ENST00000529519,;APBB1,downstream_gene_variant,,ENST00000532020,;APBB1,missense_variant,p.Ser413Pro,ENST00000608435,;APBB1,non_coding_transcript_exon_variant,,ENST00000524626,;APBB1,non_coding_transcript_exon_variant,,ENST00000533407,;APBB1,non_coding_transcript_exon_variant,,ENST00000526925,;APBB1,non_coding_transcript_exon_variant,,ENST00000534188,;APBB1,non_coding_transcript_exon_variant,,ENST00000533139,;APBB1,upstream_gene_variant,,ENST00000529778,;	uc001mdb.1	c.1237T>C	1337/2642	4	4			c.1237T>C						11	SNP	c.(1237-1239)TCT>CCT	22	22			breast(2)	2	Broad	amyloid beta A4 precursor protein-binding,			6423823		0.582	ENSG00000166313	744	g.chr11:6423823A>G	apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	GBM(147;1810 2556 5672 39622)			GBM(147;1810 2556 5672 39622)			301.285853	KEEP	44	52	-1	54	65	44	52	-1	301.725458	54	65	0.45	1	0	0	0	0	1	0	0	0	--	--		0	G			APBB1_uc001mcz.1_Missense_Mutation_p.S34P|APBB1_uc001mdd.3_Missense_Mutation_p.S193P|APBB1_uc001mda.2_Intron|APBB1_uc001mdc.1_Missense_Mutation_p.S413P|APBB1_uc010rab.1_5'Flank|APBB1_uc010rac.1_5'Flank|APBB1_uc010rad.1_Missense_Mutation_p.S34P|APBB1_uc010rae.1_Missense_Mutation_p.S178P|APBB1_uc010raf.1_Missense_Mutation_p.S154P|APBB1_uc009yfa.2_Missense_Mutation_p.S154P|APBB1_uc009yey.2_Missense_Mutation_p.S154P|APBB1_uc010rag.1_Missense_Mutation_p.S154P|APBB1_uc009yfb.2_Missense_Mutation_p.S154P|APBB1_uc001mde.2_Missense_Mutation_p.S154P|APBB1_uc010rah.1_Missense_Mutation_p.S154P	217	GBM-28-5208-TP	p.S413P	A	CAGCCCCCAGACATGGGGTCA	NM_001164	NP_001155	6423823	O00213	APBB1_HUMAN	0		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	7	1337	-	G	G		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	Missense_Mutation	413			PID 1.			
APBB1IP	54518	broad.mit.edu	GRCh37	10	26825105	26825105	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0154-01	TCGA-06-0154-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376236.4:c.1003C>T	p.Arg335Trp	p.R335W	ENST00000376236	NM_019043.3	335	Cgg/Tgg	0			1			T	R/W	uc001iss.2	protein_coding	YES	CCDS31167.1			1003/2001								p.R335W(1)	lung(4)|skin(2)|central_nervous_system(1)	7	c.(1003-1005)CGG>TGG			Gene3D:2.30.29.30,Pfam_domain:PF00169,PROSITE_profiles:PS50003,hmmpanther:PTHR11243,hmmpanther:PTHR11243:SF14,SMART_domains:SM00233,Superfamily_domains:SSF50729	amyloid beta (A4) precursor protein-binding,				ENSP00000365411		15-Oct									COSM35507	15-Oct	.		ENST00000376236	Transcript			blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		ENSG00000077420	g.chr10:26825105C>T	17379			MODERATE		2.62	medium	getma.org/?cm=msa&ty=f&p=AB1IP_HUMAN&rb=311&re=419&var=R335W	getma.org/pdb.php?prot=AB1IP_HUMAN&from=311&to=419&var=R335W	getma.org/?cm=var&var=hg19,10,26825105,C,T&fts=all	R335W	--	--	1																																		APBB1IP_uc009xks.1_Missense_Mutation_p.R335W	1	1		probably_damaging(1)	p.R335W	NM_019043	NP_061916		deleterious(0)	1	AB1IP_HUMAN	APBB1IP	HGNC	Q7Z5R6	AB1IP_HUMAN					10	1324	+			UPI00001AF165	335			PH.		SNV	APBB1IP,missense_variant,p.Arg335Trp,ENST00000376236,NM_019043.3;	uc001iss.2	c.1003C>T	1458/2771	1	1			c.1003C>T						10	SNP	c.(1003-1005)CGG>TGG	14	14		p.R335W(1)	lung(4)|skin(2)|central_nervous_system(1)	7	Broad	amyloid beta (A4) precursor protein-binding,			26825105		0.338	ENSG00000077420	745	g.chr10:26825105C>T	blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				307			307	227.726761	KEEP	30	49	-1	63	56	30	49	-1	228.896271	63	56	0.413408	1	0	0	0	0	1	0	0	0	--	--		0	T			APBB1IP_uc009xks.1_Missense_Mutation_p.R335W	26	GBM-06-0154-TP	p.R335W	C	TTTTCTTTTACGGGCTTCTGG	NM_019043	NP_061916	26825105	Q7Z5R6	AB1IP_HUMAN	0			10	1324	+	T	T			Missense_Mutation	335			PH.			
APBB1IP	0	broad.mit.edu	GRCh37	10	26849669	26849672	+	frameshift_variant	Frame_Shift_Del	DEL	CTCT	CTCT	-	rs145279460		TCGA-19-5952-01	TCGA-19-5952-01	CTCT	CTCT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376236.4:c.1267_1270delCTCT	p.Leu423MetfsTer232	p.L423Mfs*232	ENST00000376236	NM_019043.3	422	aCTCTc/ac	0			1			-	TL/X	uc001iss.2	protein_coding	YES	CCDS31167.1			1265-1268/2001									lung(4)|skin(2)|central_nervous_system(1)	7	c.(1264-1269)ACTCTCfs			hmmpanther:PTHR11243,hmmpanther:PTHR11243:SF14,Superfamily_domains:SSF50729	amyloid beta (A4) precursor protein-binding,				ENSP00000365411		13/15										13/15	.		ENST00000376236	Transcript			blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		ENSG00000077420	g.chr10:26849669_26849672delCTCT	17379	2		HIGH								--	--	1																																				1			p.T422fs	NM_019043	NP_061916				AB1IP_HUMAN	APBB1IP	HGNC	Q7Z5R6	AB1IP_HUMAN					13	1586_1589	+			UPI00001AF165	422_423	L -> F (in Ref. 1; BAC41256).				deletion	APBB1IP,frameshift_variant,p.Leu423MetfsTer232,ENST00000376236,NM_019043.3;APBB1IP,upstream_gene_variant,,ENST00000493857,;	uc001iss.2	c.1265_1268delCTCT	1720-1723/2771	5	5			c.1265_1268delCTCT						10	DEL	c.(1264-1269)ACTCTCfs	59	59			lung(4)|skin(2)|central_nervous_system(1)	7	Broad	amyloid beta (A4) precursor protein-binding,			26849672		0.461	ENSG00000077420	745	g.chr10:26849669_26849672delCTCT	blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				307			307														0.41	1	1	0	1	0	0	0	0	0	--	--		0	-				172	GBM-19-5952-TP	p.T422fs	CTCT	TATGGGAAGACTCTCTATGATAAC	NM_019043	NP_061916	26849669	Q7Z5R6	AB1IP_HUMAN	0			13	1586_1589	+	-	-			Frame_Shift_Del	422_423	L -> F (in Ref. 1; BAC41256).					
APC	0	broad.mit.edu	GRCh37	5	112174282	112174282	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-19-1390-01	TCGA-19-1390-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257430.4:c.2991T>C	p.Tyr997=	p.Y997=	ENST00000257430	NM_000038.5	997	taT/taC	0			1			C	Y	uc010jby.2	protein_coding		CCDS4107.1		12	2991/8532	D|Mis|N|F|S			colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			p.Y997fs*8(1)|p.?(1)	large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515	c.(2989-2991)TAT>TAC			hmmpanther:PTHR12607,hmmpanther:PTHR12607:SF11	adenomatous polyposis coli				ENSP00000257430		16/16									COSM3409664	16/16	.	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	ENST00000257430	Transcript	1		canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	ENSG00000134982	g.chr5:112174282T>C	583			LOW								--	--	1				TSP Lung(16;0.13)																														APC_uc011cvt.1_Silent_p.Y979Y|APC_uc003kpz.3_Silent_p.Y997Y|APC_uc003kpy.3_Silent_p.Y997Y|APC_uc010jbz.2_Silent_p.Y714Y|APC_uc010jca.2_Silent_p.Y297Y	1				p.Y997Y	NM_001127511	NP_001120983			1	APC_HUMAN	APC	HGNC	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	Q9UM98_HUMAN,Q9P119_HUMAN,Q9HAW6_HUMAN,Q4LE70_HUMAN,E9PFT7_HUMAN,D6RFL6_HUMAN,B2ZRE1_HUMAN,A5HB97_HUMAN,A5HB96_HUMAN,A5HB95_HUMAN,A5HB94_HUMAN,A1YIQ7_HUMAN		16	3371	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	UPI000013CF60	997			Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination.		SNV	APC,synonymous_variant,p.=,ENST00000457016,;APC,synonymous_variant,p.=,ENST00000257430,NM_000038.5;APC,synonymous_variant,p.=,ENST00000508376,NM_001127510.2;APC,synonymous_variant,p.=,ENST00000512211,;APC,synonymous_variant,p.=,ENST00000507379,NM_001127511.2;APC,downstream_gene_variant,,ENST00000504915,;APC,3_prime_UTR_variant,,ENST00000508624,;APC,non_coding_transcript_exon_variant,,ENST00000502371,;CTC-554D6.1,intron_variant,,ENST00000520401,;APC,downstream_gene_variant,,ENST00000514164,;	uc010jby.2	c.2991T>C	3047/10701	3	3		12	c.2991T>C	D|Mis|N|F|S			colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	5	SNP	c.(2989-2991)TAT>TAC	9	9		p.Y997fs*8(1)|p.?(1)	large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515	Broad	adenomatous polyposis coli			112174282	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	0.343	ENSG00000134982	748	g.chr5:112174282T>C	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		629	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		629	233.126526	KEEP	33	43	-1	47	37	33	43	-1	233.177817	47	37	0.480519	1	0	0	0	0	0	0	1	0	--	--	TSP Lung(16;0.13)	0	C			APC_uc011cvt.1_Silent_p.Y979Y|APC_uc003kpz.3_Silent_p.Y997Y|APC_uc003kpy.3_Silent_p.Y997Y|APC_uc010jbz.2_Silent_p.Y714Y|APC_uc010jca.2_Silent_p.Y297Y	159	GBM-19-1390-TP	p.Y997Y	T	TTTGCAGTTATGGTCAATACC	NM_001127511	NP_001120983	112174282	P25054	APC_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	3371	+	C	C		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	Silent	997			Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination.			
APC	0	broad.mit.edu	GRCh37	5	112175591	112175591	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-5207-01	TCGA-28-5207-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257430.4:c.4300A>G	p.Ser1434Gly	p.S1434G	ENST00000257430	NM_000038.5	1434	Agc/Ggc	0			1			G	S/G	uc010jby.2	protein_coding		CCDS4107.1		12	4300/8532	D|Mis|N|F|S			colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			p.S1434I(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.?(1)	large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515	c.(4300-4302)AGC>GGC			Low_complexity_(Seg):seg,hmmpanther:PTHR12607,hmmpanther:PTHR12607:SF11	adenomatous polyposis coli				ENSP00000257430		16/16									COSM1432389	16/16	.	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	ENST00000257430	Transcript	1		canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	ENSG00000134982	g.chr5:112175591A>G	583			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=APC_HUMAN&rb=1395&re=1484&var=S1434G	NA	getma.org/?cm=var&var=hg19,5,112175591,A,G&fts=all	S1434G	--	--	1				TSP Lung(16;0.13)																														APC_uc011cvt.1_Missense_Mutation_p.S1416G|APC_uc003kpz.3_Missense_Mutation_p.S1434G|APC_uc003kpy.3_Missense_Mutation_p.S1434G|APC_uc010jbz.2_Missense_Mutation_p.S1151G|APC_uc010jca.2_Missense_Mutation_p.S734G	1			probably_damaging(0.989)	p.S1434G	NM_001127511	NP_001120983			1	APC_HUMAN	APC	HGNC	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	Q9UM98_HUMAN,Q9P119_HUMAN,Q9HAW6_HUMAN,Q4LE70_HUMAN,E9PFT7_HUMAN,D6RFL6_HUMAN,B2ZRE1_HUMAN,A5HB97_HUMAN,A5HB96_HUMAN,A5HB95_HUMAN,A5HB94_HUMAN,A1YIQ7_HUMAN		16	4680	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	UPI000013CF60	1434			Ser-rich.		SNV	APC,missense_variant,p.Ser1434Gly,ENST00000457016,;APC,missense_variant,p.Ser1434Gly,ENST00000257430,NM_000038.5;APC,missense_variant,p.Ser1434Gly,ENST00000508376,NM_001127510.2;APC,downstream_gene_variant,,ENST00000512211,;APC,downstream_gene_variant,,ENST00000507379,NM_001127511.2;APC,downstream_gene_variant,,ENST00000504915,;APC,3_prime_UTR_variant,,ENST00000508624,;CTC-554D6.1,intron_variant,,ENST00000520401,;APC,downstream_gene_variant,,ENST00000502371,;APC,downstream_gene_variant,,ENST00000514164,;	uc010jby.2	c.4300A>G	4356/10701	3	3		12	c.4300A>G	D|Mis|N|F|S			colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	5	SNP	c.(4300-4302)AGC>GGC	7	7		p.S1434I(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.?(1)	large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515	Broad	adenomatous polyposis coli			112175591	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	0.483	ENSG00000134982	748	g.chr5:112175591A>G	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		629	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		629	119.024355	KEEP	25	12	-1	33	30	25	12	-1	120.713718	33	30	0.357895	1	0	0	0	0	1	0	0	0	--	--	TSP Lung(16;0.13)	0	G			APC_uc011cvt.1_Missense_Mutation_p.S1416G|APC_uc003kpz.3_Missense_Mutation_p.S1434G|APC_uc003kpy.3_Missense_Mutation_p.S1434G|APC_uc010jbz.2_Missense_Mutation_p.S1151G|APC_uc010jca.2_Missense_Mutation_p.S734G	216	GBM-28-5207-TP	p.S1434G	A	CATGCCACCAAGCAGAAGTAA	NM_001127511	NP_001120983	112175591	P25054	APC_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	4680	+	G	G		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	Missense_Mutation	1434			Ser-rich.			
APC2	10297	broad.mit.edu	GRCh37	19	1465389	1465389	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0650-01	TCGA-06-0650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000535453.1:c.2089C>T	p.His697Tyr	p.H697Y	ENST00000535453		697	Cat/Tat	0			1			T	H/Y	uc002lsr.1	protein_coding		CCDS12068.1			2089/6912									breast(3)|pancreas(1)	4	c.(2089-2091)CAT>TAT			Gene3D:1.25.10.10,hmmpanther:PTHR12607,hmmpanther:PTHR12607:SF3,Superfamily_domains:SSF48371	adenomatosis polyposis coli 2				ENSP00000233607		15/15									COSM3403831	15/15	.		ENST00000233607	Transcript	1		negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	ENSG00000115266	g.chr19:1465389C>T	24036			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=APC2_HUMAN&rb=655&re=854&var=H697Y	getma.org/pdb.php?prot=APC2_HUMAN&from=655&to=854&var=H697Y	getma.org/?cm=var&var=hg19,19,1465389,C,T&fts=all	H697Y	--	--	1																																		APC2_uc002lss.1_Missense_Mutation_p.H279Y|APC2_uc002lst.1_Missense_Mutation_p.H697Y|APC2_uc002lsu.1_Missense_Mutation_p.H696Y|C19orf25_uc010xgn.1_Intron	1			possibly_damaging(0.703)	p.H697Y	NM_005883	NP_005874			1	APC2_HUMAN	APC2	HGNC	O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	K7ELQ3_HUMAN,K7EN62_HUMAN		15	2297	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	UPI0000073D85	697					SNV	APC2,missense_variant,p.His697Tyr,ENST00000535453,;APC2,missense_variant,p.His697Tyr,ENST00000233607,NM_005883.2;APC2,missense_variant,p.His423Tyr,ENST00000238483,;APC2,missense_variant,p.His697Tyr,ENST00000590469,;C19orf25,intron_variant,,ENST00000588427,;CTB-25B13.12,upstream_gene_variant,,ENST00000588225,;APC2,non_coding_transcript_exon_variant,,ENST00000593146,;	uc002lsr.1	c.2089C>T	2297/10151	2	2			c.2089C>T						19	SNP	c.(2089-2091)CAT>TAT	21	21			breast(3)|pancreas(1)	4	Broad	adenomatosis polyposis coli 2			1465389		0.716	ENSG00000115266	749	g.chr19:1465389C>T	negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding							8.39183	KEEP	1	4	-1	7	13	1	4	-1	10.063766	7	13	0.2	1	0	0	0	0	1	0	0	0	--	--		0	T			APC2_uc002lss.1_Missense_Mutation_p.H279Y|APC2_uc002lst.1_Missense_Mutation_p.H697Y|APC2_uc002lsu.1_Missense_Mutation_p.H696Y|C19orf25_uc010xgn.1_Intron	63	GBM-06-0650-TP	p.H697Y	C	CCTGCTGGCCCATCGGCCCGC	NM_005883	NP_005874	1465389	O95996	APC2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	15	2297	+	T	T		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	Missense_Mutation	697						
APC2	0	broad.mit.edu	GRCh37	19	1466495	1466496	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-28-2514-01	TCGA-28-2514-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000233607.2:c.3196dupT	p.Ser1066PhefsTer24	p.S1066Ffs*24	ENST00000233607	NM_005883.2	1065	-/T	0			1			T	-/X	uc002lsr.1	protein_coding		CCDS12068.1			3195-3196/6912									breast(3)|pancreas(1)	4	c.(3193-3198)CTCTCGfs			Pfam_domain:PF05923,hmmpanther:PTHR12607,hmmpanther:PTHR12607:SF3,Low_complexity_(Seg):seg	adenomatosis polyposis coli 2				ENSP00000233607		15/15										15/15	.		ENST00000233607	Transcript	1		negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	ENSG00000115266	g.chr19:1466495_1466496insT	24036	1		HIGH								--	--	1																																		APC2_uc002lss.1_Frame_Shift_Ins_p.L647fs|APC2_uc002lst.1_Frame_Shift_Ins_p.L1065fs|APC2_uc002lsu.1_Frame_Shift_Ins_p.L1064fs|C19orf25_uc010xgn.1_Intron					p.L1065fs	NM_005883	NP_005874				APC2_HUMAN	APC2	HGNC	O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	K7ELQ3_HUMAN,K7EN62_HUMAN		15	3403_3404	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	UPI0000073D85	1065_1066			Interaction with CTNNB1.|1.|5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.		insertion	APC2,frameshift_variant,p.Ser1066PhefsTer24,ENST00000535453,;APC2,frameshift_variant,p.Ser1066PhefsTer24,ENST00000233607,NM_005883.2;APC2,frameshift_variant,p.Ser792PhefsTer24,ENST00000238483,;C19orf25,intron_variant,,ENST00000588427,;APC2,downstream_gene_variant,,ENST00000590469,;CTB-25B13.12,upstream_gene_variant,,ENST00000588225,;APC2,downstream_gene_variant,,ENST00000593146,;	uc002lsr.1	c.3195_3196insT	3403-3404/10151	5	5			c.3195_3196insT						19	INS	c.(3193-3198)CTCTCGfs	55	55			breast(3)|pancreas(1)	4	Broad	adenomatosis polyposis coli 2			1466496		0.683	ENSG00000115266	749	g.chr19:1466495_1466496insT	negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding																				0.2	1	0	0	1	1	0	0	0	0	--	--		0	T			APC2_uc002lss.1_Frame_Shift_Ins_p.L647fs|APC2_uc002lst.1_Frame_Shift_Ins_p.L1065fs|APC2_uc002lsu.1_Frame_Shift_Ins_p.L1064fs|C19orf25_uc010xgn.1_Intron	214	GBM-28-2514-TP	p.L1065fs	-	AGGGGCCACTCTCGCTGTCCCG	NM_005883	NP_005874	1466495	O95996	APC2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	15	3403_3404	+	T	T		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	Frame_Shift_Ins	1065_1066			Interaction with CTNNB1.|1.|5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.			
APCDD1	0	broad.mit.edu	GRCh37	18	10471619	10471619	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01	TCGA-14-3476-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355285.5:c.335G>A	p.Ser112Asn	p.S112N	ENST00000355285	NM_153000.4	112	aGc/aAc	0			1			A	S/N	uc002kom.3	protein_coding	YES	CCDS11849.1			335/1545										0	c.(334-336)AGC>AAC			hmmpanther:PTHR31021,hmmpanther:PTHR31021:SF2,Pfam_domain:PF14921	adenomatosis polyposis coli down-regulated 1				ENSP00000347433		5-Mar									COSM3403430	5-Mar	.		ENST00000355285	Transcript	1		hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding	ENSG00000154856	g.chr18:10471619G>A	15718			MODERATE		-0.69	neutral	getma.org/?cm=msa&ty=f&p=APCD1_HUMAN&rb=1&re=512&var=S112N	NA	getma.org/?cm=var&var=hg19,18,10471619,G,A&fts=all	S112N	--	--	1																																			1	1		benign(0.002)	p.S112N	NM_153000	NP_694545		deleterious(0.05)	1	APCD1_HUMAN	APCDD1	HGNC	Q8J025	APCD1_HUMAN		READ - Rectum adenocarcinoma(15;0.08)			3	689	+			UPI000000D766	112			Extracellular (Potential).		SNV	APCDD1,missense_variant,p.Ser112Asn,ENST00000355285,NM_153000.4;APCDD1,missense_variant,p.Ser112Asn,ENST00000578882,;APCDD1,upstream_gene_variant,,ENST00000584596,;APCDD1,3_prime_UTR_variant,,ENST00000582723,;APCDD1,intron_variant,,ENST00000423585,;APCDD1,upstream_gene_variant,,ENST00000579685,;	uc002kom.3	c.335G>A	689/3809	1	1			c.335G>A						18	SNP	c.(334-336)AGC>AAC	49	49				0	Broad	adenomatosis polyposis coli down-regulated 1			10471619		0.532	ENSG00000154856	750	g.chr18:10471619G>A	hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding							-16.166625	KEEP	2	1	-1	53	79	2	1	-1	7.509369	53	79	0.030612	1	0	0	0	0	1	0	0	0	--	--		0	A				151	GBM-14-3476-TP	p.S112N	G	TATTATGGCAGCAACCGGTGC	NM_153000	NP_694545	10471619	Q8J025	APCD1_HUMAN	0		READ - Rectum adenocarcinoma(15;0.08)	3	689	+	A	A			Missense_Mutation	112			Extracellular (Potential).			
APCDD1L	0	broad.mit.edu	GRCh37	20	57035877	57035877	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-14-2554-01	TCGA-14-2554-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371149.3:c.1475T>A	p.Val492Asp	p.V492D	ENST00000371149	NM_153360.1	492	gTt/gAt	0			1			T	V/D	uc002xze.1	protein_coding	YES	CCDS13467.1			1475/1506									ovary(1)	1	c.(1474-1476)GTT>GAT			Low_complexity_(Seg):seg,hmmpanther:PTHR31021:SF3,hmmpanther:PTHR31021	adenomatosis polyposis coli down-regulated				ENSP00000360191		4-Apr									COSM3405232	4-Apr	.		ENST00000371149	Transcript				integral to membrane		ENSG00000198768	g.chr20:57035877A>T	26892			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=APCDL_HUMAN&rb=464&re=501&var=V492D	NA	getma.org/?cm=var&var=hg19,20,57035877,A,T&fts=all	V492D	--	--	1																																		APCDD1L_uc010zzp.1_Missense_Mutation_p.V503D	1	1		possibly_damaging(0.683)	p.V492D	NM_153360	NP_699191		deleterious(0)	1	APCDL_HUMAN	APCDD1L	HGNC	Q8NCL9	APCDL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)				4	1661	-	Lung NSC(12;0.000856)|all_lung(29;0.0025)		UPI000006F69F	492			Helical; (Potential).		SNV	APCDD1L,missense_variant,p.Val492Asp,ENST00000371149,NM_153360.1;APCDD1L,missense_variant,p.Val503Asp,ENST00000439429,;APCDD1L,downstream_gene_variant,,ENST00000491015,;	uc002xze.1	c.1475T>A	1706/3426	2	2			c.1475T>A						20	SNP	c.(1474-1476)GTT>GAT	32	32			ovary(1)	1	Broad	adenomatosis polyposis coli down-regulated			57035877		0.612	ENSG00000198768	751	g.chr20:57035877A>T		integral to membrane								44.352206	KEEP	13	8	-1	38	34	13	8	-1	49.989174	38	34	0.232558	1	0	0	0	0	1	0	0	0	--	--		0	T			APCDD1L_uc010zzp.1_Missense_Mutation_p.V503D	150	GBM-14-2554-TP	p.V492D	A	CAGCCCTAGAACTAGGGGCAG	NM_153360	NP_699191	57035877	Q8NCL9	APCDL_HUMAN	0	BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)		4	1661	-	T	T	Lung NSC(12;0.000856)|all_lung(29;0.0025)		Missense_Mutation	492			Helical; (Potential).			
APH1A	0	broad.mit.edu	GRCh37	1	150241179	150241179	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-1979-01	TCGA-32-1979-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369109.3:c.32T>C	p.Phe11Ser	p.F11S	ENST00000369109	NM_001077628.2	11	tTc/tCc	0			1			G	F/S	uc001ety.1	protein_coding	YES	CCDS41390.1			32/798									ovary(1)|lung(1)	2	c.(31-33)TTC>TCC			Transmembrane_helices:TMhelix,hmmpanther:PTHR12889:SF2,hmmpanther:PTHR12889,Pfam_domain:PF06105	anterior pharynx defective 1 homolog A isoform				ENSP00000358105		7-Jan	1.66E-05			0.000244					rs782078785,COSM3399685,COSM3399684	7-Jan	.		ENST00000369109	Transcript			amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding	ENSG00000117362	g.chr1:150241179A>G	29509			MODERATE		3.085	medium	getma.org/?cm=msa&ty=f&p=APH1A_HUMAN&rb=2&re=246&var=F11S	NA	getma.org/?cm=var&var=hg19,1,150241179,A,G&fts=all	F11S	--	--	1																																		APH1A_uc010pbx.1_Missense_Mutation_p.F11S|APH1A_uc001etz.1_Missense_Mutation_p.F11S|APH1A_uc001eua.1_Missense_Mutation_p.F11S|APH1A_uc010pby.1_Missense_Mutation_p.F11S|APH1A_uc001eub.1_5'UTR|APH1A_uc010pbz.1_5'UTR	0,1,1	1		possibly_damaging(0.69)	p.F11S	NM_001077628	NP_001071096		deleterious(0.02)	0,1,1	APH1A_HUMAN	APH1A	HGNC	Q96BI3	APH1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)				1	354	-	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		UPI0000073CA3	11			Helical; Name=1; (Potential).		SNV	APH1A,missense_variant,p.Phe11Ser,ENST00000360244,NM_016022.3;APH1A,missense_variant,p.Phe11Ser,ENST00000369109,NM_001077628.2;APH1A,missense_variant,p.Phe11Ser,ENST00000414276,NM_001243772.1;APH1A,missense_variant,p.Phe11Ser,ENST00000236017,;C1orf54,5_prime_UTR_variant,,ENST00000369102,;CA14,downstream_gene_variant,,ENST00000369111,NM_012113.1;C1orf54,upstream_gene_variant,,ENST00000369099,NM_024579.3;CA14,downstream_gene_variant,,ENST00000607082,;C1orf54,upstream_gene_variant,,ENST00000369098,;APH1A,non_coding_transcript_exon_variant,,ENST00000461320,;APH1A,upstream_gene_variant,,ENST00000476538,;APH1A,downstream_gene_variant,,ENST00000493092,;APH1A,upstream_gene_variant,,ENST00000486308,;APH1A,upstream_gene_variant,,ENST00000486720,;CA14,downstream_gene_variant,,ENST00000607652,;	uc001ety.1	c.32T>C	221/1713	4	4			c.32T>C						1	SNP	c.(31-33)TTC>TCC	28	28			ovary(1)|lung(1)	2	Broad	anterior pharynx defective 1 homolog A isoform			150241179		0.662	ENSG00000117362	756	g.chr1:150241179A>G	amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding							17.575937	KEEP	2	5	-1	1	4	2	5	-1	17.600113	1	4	0.555556	1	0	0	0	0	1	0	0	0	--	--		0	G			APH1A_uc010pbx.1_Missense_Mutation_p.F11S|APH1A_uc001etz.1_Missense_Mutation_p.F11S|APH1A_uc001eua.1_Missense_Mutation_p.F11S|APH1A_uc010pby.1_Missense_Mutation_p.F11S|APH1A_uc001eub.1_5'UTR|APH1A_uc010pbz.1_5'UTR	230	GBM-32-1979-TP	p.F11S	A	GAACGCGACGAAAGTGCAGCC	NM_001077628	NP_001071096	150241179	Q96BI3	APH1A_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.171)		1	354	-	G	G	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		Missense_Mutation	11			Helical; Name=1; (Potential).			
APLP1	333	broad.mit.edu	GRCh37	19	36363501	36363501	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01	TCGA-06-0122-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221891.4:c.967C>T	p.Arg323Cys	p.R323C	ENST00000221891	NM_001024807.1	323	Cgc/Tgc	0			1			T	R/C	uc002oce.2	protein_coding	YES	CCDS32997.1			967/1956									ovary(2)	2	c.(967-969)CGC>TGC			hmmpanther:PTHR23103:SF13,hmmpanther:PTHR23103,Pfam_domain:PF12925,Superfamily_domains:0043391,Prints_domain:PR00203	amyloid precursor-like protein 1 isoform 2				ENSP00000221891		17-Jul	1.65E-05					3.00E-05			rs778308918,COSM2149229	17-Jul	.		ENST00000221891	Transcript			apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	ENSG00000105290	g.chr19:36363501C>T	597			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=APLP1_HUMAN&rb=283&re=468&var=R323C	getma.org/pdb.php?prot=APLP1_HUMAN&from=283&to=468&var=R323C	getma.org/?cm=var&var=hg19,19,36363501,C,T&fts=all	R323C	--	--	1																																		APLP1_uc010xsz.1_Missense_Mutation_p.R284C|APLP1_uc002ocf.2_Missense_Mutation_p.R323C|APLP1_uc002ocg.2_Missense_Mutation_p.R226C|APLP1_uc010xta.1_Missense_Mutation_p.R317C	0,1	1		probably_damaging(0.998)	p.R323C	NM_005166	NP_005157		tolerated(0.1)	0,1	APLP1_HUMAN	APLP1	HGNC	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		K7EQJ4_HUMAN,K7ELK0_HUMAN,A4UCT6_HUMAN		7	1105	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		UPI000020215E	323			Heparin-binding (By similarity).|Extracellular (Potential).		SNV	APLP1,missense_variant,p.Arg323Cys,ENST00000221891,NM_001024807.1,NM_005166.3;APLP1,missense_variant,p.Arg284Cys,ENST00000537454,;APLP1,missense_variant,p.Arg317Cys,ENST00000586861,;APLP1,missense_variant,p.Arg226Cys,ENST00000592316,;APLP1,upstream_gene_variant,,ENST00000587274,;APLP1,upstream_gene_variant,,ENST00000588808,;APLP1,downstream_gene_variant,,ENST00000589743,;NPHS1,upstream_gene_variant,,ENST00000591817,;APLP1,upstream_gene_variant,,ENST00000589298,;APLP1,3_prime_UTR_variant,,ENST00000590561,;	uc002oce.2	c.967C>T	1159/2495	1	1			c.967C>T						19	SNP	c.(967-969)CGC>TGC	7	7			ovary(2)	2	Broad	amyloid precursor-like protein 1 isoform 2			36363501		0.537	ENSG00000105290	763	g.chr19:36363501C>T	apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding							62.834018	KEEP	16	15	-1	66	47	16	15	-1	72.746678	66	47	0.21374	1	0	0	0	0	1	0	0	0	--	--		0	T			APLP1_uc010xsz.1_Missense_Mutation_p.R284C|APLP1_uc002ocf.2_Missense_Mutation_p.R323C|APLP1_uc002ocg.2_Missense_Mutation_p.R226C|APLP1_uc010xta.1_Missense_Mutation_p.R317C	10	GBM-06-0122-TP	p.R323C	C	GCGTAGGATGCGCCAGATTAA	NM_005166	NP_005157	36363501	P51693	APLP1_HUMAN	0	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	1105	+	T	T	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		Missense_Mutation	323			Heparin-binding (By similarity).|Extracellular (Potential).			
APLP2	0	broad.mit.edu	GRCh37	11	129999030	129999030	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01	TCGA-19-5954-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263574.5:c.1384G>A	p.Ala462Thr	p.A462T	ENST00000263574	NM_001642.2	462	Gct/Act	0			1			A	A/T	uc010sby.1	protein_coding	YES	CCDS8486.1			1384/2292									ovary(3)	3	c.(1384-1386)GCT>ACT			Superfamily_domains:0043391,Pfam_domain:PF12925,hmmpanther:PTHR23103:SF14,hmmpanther:PTHR23103	amyloid beta (A4) precursor-like protein 2				ENSP00000263574		18-Oct									COSM2156707	18-Oct	.		ENST00000263574	Transcript			G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	ENSG00000084234	g.chr11:129999030G>A	598			MODERATE		2.47	medium	getma.org/?cm=msa&ty=f&p=APLP2_HUMAN&rb=363&re=548&var=A462T	getma.org/pdb.php?prot=APLP2_HUMAN&from=363&to=548&var=A462T	getma.org/?cm=var&var=hg19,11,129999030,G,A&fts=all	A462T	--	--	1																																		APLP2_uc001qfp.2_Missense_Mutation_p.A462T|APLP2_uc001qfq.2_Missense_Mutation_p.A406T|APLP2_uc010sbz.1_Missense_Mutation_p.A250T|APLP2_uc001qfr.2_Missense_Mutation_p.A228T|APLP2_uc001qfs.2_Missense_Mutation_p.A233T|APLP2_uc001qfv.2_Missense_Mutation_p.A353T	1	1		probably_damaging(0.999)	p.A462T	NM_001642	NP_001633		deleterious(0)	1	APLP2_HUMAN	APLP2	HGNC	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	Q9UED0_HUMAN		10	1541	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	UPI0000125CAE	462			Extracellular (Potential).		SNV	APLP2,missense_variant,p.Ala462Thr,ENST00000263574,NM_001642.2;APLP2,missense_variant,p.Ala472Thr,ENST00000278756,;APLP2,missense_variant,p.Ala369Thr,ENST00000543137,NM_001243299.1;APLP2,missense_variant,p.Ala462Thr,ENST00000338167,NM_001142276.1;APLP2,missense_variant,p.Ala406Thr,ENST00000528499,NM_001142277.1;APLP2,missense_variant,p.Ala250Thr,ENST00000539648,;APLP2,missense_variant,p.Ala233Thr,ENST00000345598,NM_001142278.1;APLP2,3_prime_UTR_variant,,ENST00000533616,;	uc010sby.1	c.1384G>A	1456/3720	1	1			c.1384G>A						11	SNP	c.(1384-1386)GCT>ACT	63	63			ovary(3)	3	Broad	amyloid beta (A4) precursor-like protein 2			129999030		0.582	ENSG00000084234	764	g.chr11:129999030G>A	G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity							101.650447	KEEP	20	18	-1	29	33	20	18	-1	103.267671	29	33	0.358696	1	0	0	0	0	1	0	0	0	--	--		0	A			APLP2_uc001qfp.2_Missense_Mutation_p.A462T|APLP2_uc001qfq.2_Missense_Mutation_p.A406T|APLP2_uc010sbz.1_Missense_Mutation_p.A250T|APLP2_uc001qfr.2_Missense_Mutation_p.A228T|APLP2_uc001qfs.2_Missense_Mutation_p.A233T|APLP2_uc001qfv.2_Missense_Mutation_p.A353T	174	GBM-19-5954-TP	p.A462T	G	CCGAGTGGAAGCTATGCTGAA	NM_001642	NP_001633	129999030	Q06481	APLP2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	10	1541	+	A	A	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	Missense_Mutation	462			Extracellular (Potential).			
APLP2	0	broad.mit.edu	GRCh37	11	129992408	129992408	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01	TCGA-26-6174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263574.5:c.922G>A	p.Ala308Thr	p.A308T	ENST00000263574	NM_001642.2	308	Gct/Act	0			1			A	A/T	uc010sby.1	protein_coding	YES	CCDS8486.1			922/2292									ovary(3)	3	c.(922-924)GCT>ACT			Prints_domain:PR00759,Superfamily_domains:SSF57362,SMART_domains:SM00131,Gene3D:4.10.410.10,hmmpanther:PTHR23103:SF14,hmmpanther:PTHR23103	amyloid beta (A4) precursor-like protein 2				ENSP00000263574		18-Jun									COSM3397559	18-Jun	.		ENST00000263574	Transcript			G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	ENSG00000084234	g.chr11:129992408G>A	598			MODERATE		0.77	neutral	getma.org/?cm=msa&ty=f&p=APLP2_HUMAN&rb=306&re=364&var=A308T	getma.org/pdb.php?prot=APLP2_HUMAN&from=306&to=364&var=A308T	getma.org/?cm=var&var=hg19,11,129992408,G,A&fts=all	A308T	--	--	1																																		APLP2_uc001qfp.2_Missense_Mutation_p.A308T|APLP2_uc001qfq.2_Missense_Mutation_p.V308I|APLP2_uc010sbz.1_Missense_Mutation_p.V152I|APLP2_uc001qfr.2_Missense_Mutation_p.V130I|APLP2_uc001qfs.2_Intron|APLP2_uc001qfv.2_Missense_Mutation_p.V255I	1	1		benign(0.006)	p.A308T	NM_001642	NP_001633		tolerated(0.28)	1	APLP2_HUMAN	APLP2	HGNC	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	Q9UED0_HUMAN		6	1079	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	UPI0000125CAE	308			BPTI/Kunitz inhibitor.|Extracellular (Potential).		SNV	APLP2,missense_variant,p.Ala308Thr,ENST00000263574,NM_001642.2;APLP2,missense_variant,p.Ala215Thr,ENST00000543137,NM_001243299.1;APLP2,missense_variant,p.Ala318Thr,ENST00000278756,;APLP2,missense_variant,p.Ala308Thr,ENST00000338167,NM_001142276.1;APLP2,missense_variant,p.Val308Ile,ENST00000528499,NM_001142277.1;APLP2,missense_variant,p.Val152Ile,ENST00000539648,;APLP2,intron_variant,,ENST00000345598,NM_001142278.1;APLP2,downstream_gene_variant,,ENST00000533713,;APLP2,downstream_gene_variant,,ENST00000534001,;APLP2,downstream_gene_variant,,ENST00000526330,;APLP2,downstream_gene_variant,,ENST00000527702,;APLP2,downstream_gene_variant,,ENST00000529701,;APLP2,downstream_gene_variant,,ENST00000534761,;APLP2,downstream_gene_variant,,ENST00000529235,;APLP2,downstream_gene_variant,,ENST00000529483,;APLP2,splice_region_variant,,ENST00000533616,;APLP2,downstream_gene_variant,,ENST00000533618,;APLP2,downstream_gene_variant,,ENST00000534582,;	uc010sby.1	c.922G>A	994/3720	2	2			c.922G>A						11	SNP	c.(922-924)GCT>ACT	21	21			ovary(3)	3	Broad	amyloid beta (A4) precursor-like protein 2			129992408		0.443	ENSG00000084234	764	g.chr11:129992408G>A	G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity							24.658685	KEEP	4	5	-1	10	18	4	5	-1	26.360642	10	18	0.264706	1	0	0	0	0	1	0	0	0	--	--		0	A			APLP2_uc001qfp.2_Missense_Mutation_p.A308T|APLP2_uc001qfq.2_Missense_Mutation_p.V308I|APLP2_uc010sbz.1_Missense_Mutation_p.V152I|APLP2_uc001qfr.2_Missense_Mutation_p.V130I|APLP2_uc001qfs.2_Intron|APLP2_uc001qfv.2_Missense_Mutation_p.V255I	188	GBM-26-6174-TP	p.A308T	G	TGATGTCAAAGGTAACCCCAT	NM_001642	NP_001633	129992408	Q06481	APLP2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	6	1079	+	A	A	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	Missense_Mutation	308			BPTI/Kunitz inhibitor.|Extracellular (Potential).			
APOB	338	broad.mit.edu	GRCh37	2	21230155	21230155	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs141840973		TCGA-02-2483-01	TCGA-02-2483-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000233242.1:c.9585G>C	p.Glu3195Asp	p.E3195D	ENST00000233242	NM_000384.2	3195	gaG/gaC	0			1			G	E/D	uc002red.2	protein_coding	YES	CCDS1703.1			9585/13692									ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	c.(9583-9585)GAG>GAC			hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	apolipoprotein B precursor	Atorvastatin(DB01076)			ENSP00000233242		26/29									COSM3407542	26/29	.		ENST00000233242	Transcript	1		cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	ENSG00000084674	g.chr2:21230155C>G	603			MODERATE		0.91	low	getma.org/?cm=msa&ty=f&p=APOB_HUMAN&rb=3073&re=3272&var=E3195D	NA	getma.org/?cm=var&var=hg19,2,21230155,C,G&fts=all	E3195D	--	--	1																																			1	1		benign(0.082)	p.E3195D	NM_000384	NP_000375			1	APOB_HUMAN	APOB	HGNC	P04114	APOB_HUMAN			S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN		26	9713	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		UPI0000141B94	3195			Heparin-binding.		SNV	APOB,missense_variant,p.Glu3195Asp,ENST00000233242,NM_000384.2;	uc002red.2	c.9585G>C	9713/14121	3	3			c.9585G>C						2	SNP	c.(9583-9585)GAG>GAC	12	12			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Broad	apolipoprotein B precursor		Atorvastatin(DB01076)	21230155		0.323	ENSG00000084674	768	g.chr2:21230155C>G	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity							-20.250965	KEEP	2	4	-1	70	67	2	4	-1	11.955971	70	67	0.036232	1	0	0	0	0	1	0	0	0	--	--		0	G				6	GBM-02-2483-TP	p.E3195D	C	GACTGATAAACTCACAAAGCA	NM_000384	NP_000375	21230155	P04114	APOB_HUMAN	0			26	9713	-	G	G	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Missense_Mutation	3195			Heparin-binding.			
APOB	338	broad.mit.edu	GRCh37	2	21246441	21246441	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01	TCGA-02-2483-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000233242.1:c.2560A>G	p.Ile854Val	p.I854V	ENST00000233242	NM_000384.2	854	Att/Gtt	0			1			C	I/V	uc002red.2	protein_coding	YES	CCDS1703.1			2560/13692									ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	c.(2560-2562)ATT>GTT			hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1,Gene3D:1lshA04,Pfam_domain:PF09172,Superfamily_domains:SSF56968	apolipoprotein B precursor	Atorvastatin(DB01076)			ENSP00000233242		17/29									COSM3407549	17/29	.		ENST00000233242	Transcript	1		cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	ENSG00000084674	g.chr2:21246441T>C	603			MODERATE		0.77	neutral	getma.org/?cm=msa&ty=f&p=APOB_HUMAN&rb=632&re=945&var=I854V	NA	getma.org/?cm=var&var=hg19,2,21246441,T,C&fts=all	I854V	--	--	1																																			1	1		benign(0.052)	p.I854V	NM_000384	NP_000375			1	APOB_HUMAN	APOB	HGNC	P04114	APOB_HUMAN			S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN		17	2688	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		UPI0000141B94	854					SNV	APOB,missense_variant,p.Ile854Val,ENST00000233242,NM_000384.2;APOB,downstream_gene_variant,,ENST00000399256,;	uc002red.2	c.2560A>G	2688/14121	3	3			c.2560A>G						2	SNP	c.(2560-2562)ATT>GTT	63	63			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Broad	apolipoprotein B precursor		Atorvastatin(DB01076)	21246441		0.423	ENSG00000084674	768	g.chr2:21246441T>C	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity							-19.668491	KEEP	4	2	-1	69	75	4	2	-1	12.278089	69	75	0.042254	1	0	0	0	0	1	0	0	0	--	--		0	C				6	GBM-02-2483-TP	p.I854V	T	CCGGGAGCAATGACTCCAGAT	NM_000384	NP_000375	21246441	P04114	APOB_HUMAN	0			17	2688	-	C	C	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Missense_Mutation	854						
APOB	338	broad.mit.edu	GRCh37	2	21255225	21255225	+	splice_donor_variant	Splice_Site	DEL	C	C	-			TCGA-06-0209-01	TCGA-06-0209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000233242.1:c.1352+1del		p.X451_splice	ENST00000233242	NM_000384.2	451		0			1			-		uc002red.2	protein_coding	YES	CCDS1703.1			1352/13692									ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	c.e10+1				apolipoprotein B precursor	Atorvastatin(DB01076)			ENSP00000233242													.		ENST00000233242	Transcript	1		cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	ENSG00000084674	g.chr2:21255225delC	603			HIGH	28-Oct							--	--	1																																				1			p.N451_splice	NM_000384	NP_000375				APOB_HUMAN	APOB	HGNC	P04114	APOB_HUMAN			S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN		10	1480	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		UPI0000141B94						deletion	APOB,splice_donor_variant,,ENST00000233242,NM_000384.2;APOB,splice_donor_variant,,ENST00000399256,;	uc002red.2	c.1352_splice	-/14121	5	5			c.1352_splice						2	DEL	c.e10+1	41	41			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Broad	apolipoprotein B precursor		Atorvastatin(DB01076)	21255225		0.537	ENSG00000084674	768	g.chr2:21255225delC	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity																				0.23	1	1	0	1	0	0	0	0	1	--	--		0	-				46	GBM-06-0209-TP	p.N451_splice	C	TGGAAACTCACTTGTTGACCG	NM_000384	NP_000375	21255225	P04114	APOB_HUMAN	0			10	1480	-	-	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Splice_Site							
APOB	0	broad.mit.edu	GRCh37	2	21229086	21229086	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-6391-01	TCGA-06-6391-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000233242.1:c.10654G>C	p.Gly3552Arg	p.G3552R	ENST00000233242	NM_000384.2	3552	Gga/Cga	0			1			G	G/R	uc002red.2	protein_coding	YES	CCDS1703.1			10654/13692									ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	c.(10654-10656)GGA>CGA			hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	apolipoprotein B precursor	Atorvastatin(DB01076)			ENSP00000233242		26/29										26/29	.		ENST00000233242	Transcript	1		cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	ENSG00000084674	g.chr2:21229086C>G	603			MODERATE		2.2	medium	getma.org/?cm=msa&ty=f&p=APOB_HUMAN&rb=3440&re=4087&var=G3552R	NA	getma.org/?cm=var&var=hg19,2,21229086,C,G&fts=all	G3552R	--	--	1																																				1		probably_damaging(1)	p.G3552R	NM_000384	NP_000375				APOB_HUMAN	APOB	HGNC	P04114	APOB_HUMAN			S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN		26	10782	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		UPI0000141B94	3552					SNV	APOB,missense_variant,p.Gly3552Arg,ENST00000233242,NM_000384.2;	uc002red.2	c.10654G>C	10782/14121	3	3			c.10654G>C						2	SNP	c.(10654-10656)GGA>CGA	51	51			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Broad	apolipoprotein B precursor		Atorvastatin(DB01076)	21229086		0.443	ENSG00000084674	768	g.chr2:21229086C>G	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity							52.564483	KEEP	12	15	-1	55	54	12	15	-1	62.855627	55	54	0.204724	1	0	0	0	0	1	0	0	0	--	--		0	G				107	GBM-06-6391-TP	p.G3552R	C	GTGGCTTCTCCAGCAAAATTT	NM_000384	NP_000375	21229086	P04114	APOB_HUMAN	0			26	10782	-	G	G	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Missense_Mutation	3552						
APOB	0	broad.mit.edu	GRCh37	2	21245793	21245793	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6391-01	TCGA-06-6391-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000233242.1:c.2726C>T	p.Ser909Leu	p.S909L	ENST00000233242	NM_000384.2	909	tCg/tTg	0			1			A	S/L	uc002red.2	protein_coding	YES	CCDS1703.1			2726/13692									ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	c.(2725-2727)TCG>TTG			hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1,Gene3D:1lshA04,Pfam_domain:PF09172,Superfamily_domains:SSF56968	apolipoprotein B precursor	Atorvastatin(DB01076)			ENSP00000233242		18/29	8.24E-06	9.61E-05							rs776209966	18/29	.		ENST00000233242	Transcript	1		cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	ENSG00000084674	g.chr2:21245793G>A	603			MODERATE		2.005	medium	getma.org/?cm=msa&ty=f&p=APOB_HUMAN&rb=632&re=945&var=S909L	NA	getma.org/?cm=var&var=hg19,2,21245793,G,A&fts=all	S909L	--	--	1																																				1		benign(0.023)	p.S909L	NM_000384	NP_000375				APOB_HUMAN	APOB	HGNC	P04114	APOB_HUMAN			S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN		18	2854	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		UPI0000141B94	909			Heparin-binding.		SNV	APOB,missense_variant,p.Ser909Leu,ENST00000233242,NM_000384.2;APOB,downstream_gene_variant,,ENST00000399256,;	uc002red.2	c.2726C>T	2854/14121	2	2			c.2726C>T						2	SNP	c.(2725-2727)TCG>TTG	22	22			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Broad	apolipoprotein B precursor		Atorvastatin(DB01076)	21245793		0.498	ENSG00000084674	768	g.chr2:21245793G>A	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity							18.274629	KEEP	4	7	-1	29	41	4	7	-1	28.205766	29	41	0.139241	1	0	0	0	0	1	0	0	0	--	--		0	A				107	GBM-06-6391-TP	p.S909L	G	CTCCAGACCCGACTCGTGGAA	NM_000384	NP_000375	21245793	P04114	APOB_HUMAN	0			18	2854	-	A	A	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Missense_Mutation	909			Heparin-binding.			
APOB	0	broad.mit.edu	GRCh37	2	21225763	21225763	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-26-5133-01	TCGA-26-5133-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000233242.1:c.12531A>G	p.Arg4177=	p.R4177=	ENST00000233242	NM_000384.2	4177	cgA/cgG	0			1			C	R	uc002red.2	protein_coding	YES	CCDS1703.1			12531/13692									ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	c.(12529-12531)CGA>CGG			hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	apolipoprotein B precursor	Atorvastatin(DB01076)			ENSP00000233242		29/29									COSM2156972	29/29	.		ENST00000233242	Transcript	1		cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	ENSG00000084674	g.chr2:21225763T>C	603			LOW								--	--	1																																			1	1			p.R4177R	NM_000384	NP_000375			1	APOB_HUMAN	APOB	HGNC	P04114	APOB_HUMAN			S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN		29	12659	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		UPI0000141B94	4177					SNV	APOB,synonymous_variant,p.=,ENST00000233242,NM_000384.2;RP11-116D2.1,upstream_gene_variant,,ENST00000567376,;	uc002red.2	c.12531A>G	12659/14121	4	4			c.12531A>G						2	SNP	c.(12529-12531)CGA>CGG	42	42			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Broad	apolipoprotein B precursor		Atorvastatin(DB01076)	21225763		0.463	ENSG00000084674	768	g.chr2:21225763T>C	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity							197.91334	KEEP	36	26	-1	54	52	36	26	-1	200.468145	54	52	0.36478	1	0	0	0	0	0	0	1	0	--	--		0	C				182	GBM-26-5133-TP	p.R4177R	T	CTTGAGTAACTCGTACCAAGC	NM_000384	NP_000375	21225763	P04114	APOB_HUMAN	0			29	12659	-	C	C	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Silent	4177						
APOB	0	broad.mit.edu	GRCh37	2	21233457	21233457	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000233242.1:c.6283G>A	p.Val2095Ile	p.V2095I	ENST00000233242	NM_000384.2	2095	Gta/Ata	0			1			T	V/I	uc002red.2	protein_coding	YES	CCDS1703.1			6283/13692									ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	c.(6283-6285)GTA>ATA			hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	apolipoprotein B precursor	Atorvastatin(DB01076)			ENSP00000233242		26/29	8.24E-05					0.000135		6.08E-05	rs200874264,COSM3407545	26/29	.		ENST00000233242	Transcript	1		cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	ENSG00000084674	g.chr2:21233457C>T	603			MODERATE		-0.715	neutral	getma.org/?cm=msa&ty=f&p=APOB_HUMAN&rb=2073&re=2272&var=V2095I	NA	getma.org/?cm=var&var=hg19,2,21233457,C,T&fts=all	V2095I	--	--	1																																			0,1	1		benign(0)	p.V2095I	NM_000384	NP_000375			0,1	APOB_HUMAN	APOB	HGNC	P04114	APOB_HUMAN			S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN		26	6411	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		UPI0000141B94	2095			Heparin-binding.		SNV	APOB,missense_variant,p.Val2095Ile,ENST00000233242,NM_000384.2;	uc002red.2	c.6283G>A	6411/14121	1	1			c.6283G>A						2	SNP	c.(6283-6285)GTA>ATA	3	3			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Broad	apolipoprotein B precursor		Atorvastatin(DB01076)	21233457		0.368	ENSG00000084674	768	g.chr2:21233457C>T	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity							47.527457	KEEP	9	11	-1	14	17	9	11	-1	48.036729	14	17	0.386364	1	0	0	0	0	1	0	0	0	--	--		0	T				230	GBM-32-1979-TP	p.V2095I	C	TTTCTCTGTACGTTTTCCAGT	NM_000384	NP_000375	21233457	P04114	APOB_HUMAN	0			26	6411	-	T	T	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Missense_Mutation	2095			Heparin-binding.			
APOB	0	broad.mit.edu	GRCh37	2	21256280	21256280	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-32-1982-01	TCGA-32-1982-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000233242.1:c.1015G>T	p.Glu339Ter	p.E339*	ENST00000233242	NM_000384.2	339	Gag/Tag	0			1			A	E/*	uc002red.2	protein_coding	YES	CCDS1703.1			1015/13692									ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	c.(1015-1017)GAG>TAG			PROSITE_profiles:PS51211,hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1,Gene3D:1lshA02,Pfam_domain:PF01347,SMART_domains:SM00638,Superfamily_domains:0040642	apolipoprotein B precursor	Atorvastatin(DB01076)			ENSP00000233242		29-Sep									COSM3407552	29-Sep	.		ENST00000233242	Transcript	1		cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	ENSG00000084674	g.chr2:21256280C>A	603			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,21256280,C,A&fts=all	E339*	--	--	1																																			1	1			p.E339*	NM_000384	NP_000375			1	APOB_HUMAN	APOB	HGNC	P04114	APOB_HUMAN			S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN		9	1143	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		UPI0000141B94	339			Vitellogenin.		SNV	APOB,stop_gained,p.Glu339Ter,ENST00000233242,NM_000384.2;APOB,stop_gained,p.Glu339Ter,ENST00000399256,;	uc002red.2	c.1015G>T	1143/14121	5	2			c.1015G>T						2	SNP	c.(1015-1017)GAG>TAG	45	45			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Broad	apolipoprotein B precursor		Atorvastatin(DB01076)	21256280		0.468	ENSG00000084674	768	g.chr2:21256280C>A	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity							169.805709	KEEP	31	39	0.557142857	93	89	31	39	0.557142857	180.501958	93	89	0.278008	1	0	0	0	0	0	1	0	0	--	--		0	A				232	GBM-32-1982-TP	p.E339*	C	ATATTTTGCTCAGAGATGGTT	NM_000384	NP_000375	21256280	P04114	APOB_HUMAN	0			9	1143	-	A	A	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Nonsense_Mutation	339			Vitellogenin.			
APOB	0	broad.mit.edu	GRCh37	2	21233706	21233706	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs147863759		TCGA-32-2615-01	TCGA-32-2615-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000233242.1:c.6034C>T	p.Arg2012Ter	p.R2012*	ENST00000233242	NM_000384.2	2012	Cga/Tga	0	A:0.0002		1			A	R/*	uc002red.2	protein_coding	YES	CCDS1703.1			6034/13692									ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	c.(6034-6036)CGA>TGA			hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	apolipoprotein B precursor	Atorvastatin(DB01076)		A:0	ENSP00000233242		26/29	2.47E-05	9.61E-05				1.50E-05		6.06E-05	rs147863759,COSM3407546	26/29	.		ENST00000233242	Transcript	1		cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	ENSG00000084674	g.chr2:21233706G>A	603			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,21233706,G,A&fts=all	R2012*	--	--	1																																			0,1	1			p.R2012*	NM_000384	NP_000375			0,1	APOB_HUMAN	APOB	HGNC	P04114	APOB_HUMAN			S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN		26	6162	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		UPI0000141B94	2012					SNV	APOB,stop_gained,p.Arg2012Ter,ENST00000233242,NM_000384.2;	uc002red.2	c.6034C>T	6162/14121	5	2			c.6034C>T						2	SNP	c.(6034-6036)CGA>TGA	45	45			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Broad	apolipoprotein B precursor		Atorvastatin(DB01076)	21233706		0.428	ENSG00000084674	768	g.chr2:21233706G>A	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity							237.383692	KEEP	37	47	-1	91	47	37	47	-1	238.844244	91	47	0.407216	1	0	0	0	0	0	1	0	0	--	--		0	A				239	GBM-32-2615-TP	p.R2012*	G	GCCAGAGTTCGTCCAGTAAGC	NM_000384	NP_000375	21233706	P04114	APOB_HUMAN	0			26	6162	-	A	A	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Nonsense_Mutation	2012						
APOB	0	broad.mit.edu	GRCh37	2	21227177	21227177	+	synonymous_variant	Silent	SNP	G	G	A	rs12713501	byFrequency	TCGA-41-4097-01	TCGA-41-4097-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000233242.1:c.12051C>T	p.Asp4017=	p.D4017=	ENST00000233242	NM_000384.2	4017	gaC/gaT	0	A:0.0005		1			A	D	uc002red.2	protein_coding	YES	CCDS1703.1			12051/13692									ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	c.(12049-12051)GAC>GAT			hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	apolipoprotein B precursor	Atorvastatin(DB01076)		A:0.0001	ENSP00000233242		28/29	4.12E-05	0.000192				3.00E-05		6.06E-05	rs12713501,COSM573420	28/29	.		ENST00000233242	Transcript	1		cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	ENSG00000084674	g.chr2:21227177G>A	603			LOW								--	--	1																																			0,1	1			p.D4017D	NM_000384	NP_000375			0,1	APOB_HUMAN	APOB	HGNC	P04114	APOB_HUMAN			S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN		28	12179	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		UPI0000141B94	4017					SNV	APOB,synonymous_variant,p.=,ENST00000233242,NM_000384.2;RP11-116D2.1,upstream_gene_variant,,ENST00000567376,;	uc002red.2	c.12051C>T	12179/14121	2	2			c.12051C>T						2	SNP	c.(12049-12051)GAC>GAT	25	25			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Broad	apolipoprotein B precursor		Atorvastatin(DB01076)	21227177		0.512	ENSG00000084674	768	g.chr2:21227177G>A	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity							81.407484	KEEP	12	23	-1	53	43	12	23	-1	86.203965	53	43	0.277778	1	0	0	0	0	0	0	1	0	--	--		0	A				257	GBM-41-4097-TP	p.D4017D	G	TAGAAAAGTCGTCATCTTCAT	NM_000384	NP_000375	21227177	P04114	APOB_HUMAN	0			28	12179	-	A	A	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Silent	4017						
APOB	0	broad.mit.edu	GRCh37	2	21230333	21230333	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01	TCGA-76-4928-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000233242.1:c.9407G>A	p.Arg3136His	p.R3136H	ENST00000233242	NM_000384.2	3136	cGt/cAt	0		T:0	1	T:0		T	R/H	uc002red.2	protein_coding	YES	CCDS1703.1			9407/13692									ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	c.(9406-9408)CGT>CAT			hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1	apolipoprotein B precursor	Atorvastatin(DB01076)	T:0		ENSP00000233242	T:0.001	26/29	4.94E-05			0.000231		3.00E-05		0.000121	rs199590149,COSM318732	26/29	.		ENST00000233242	Transcript	1	T:0.0002	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	ENSG00000084674	g.chr2:21230333C>T	603			MODERATE		-0.695	neutral	getma.org/?cm=msa&ty=f&p=APOB_HUMAN&rb=3073&re=3272&var=R3136H	NA	getma.org/?cm=var&var=hg19,2,21230333,C,T&fts=all	R3136H	--	--	1																																			0,1	1		benign(0.004)	p.R3136H	NM_000384	NP_000375	T:0		0,1	APOB_HUMAN	APOB	HGNC	P04114	APOB_HUMAN			S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN		26	9535	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		UPI0000141B94	3136					SNV	APOB,missense_variant,p.Arg3136His,ENST00000233242,NM_000384.2;	uc002red.2	c.9407G>A	9535/14121	2	2			c.9407G>A						2	SNP	c.(9406-9408)CGT>CAT	29	29			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Broad	apolipoprotein B precursor		Atorvastatin(DB01076)	21230333		0.373	ENSG00000084674	768	g.chr2:21230333C>T	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity							90.034502	KEEP	25	27	-1	100	121	25	27	-1	111.805266	100	121	0.193548	1	0	0	0	0	1	0	0	0	--	--		0	T				268	GBM-76-4928-TP	p.R3136H	C	GTAAGGTAGACGCATTTCAGG	NM_000384	NP_000375	21230333	P04114	APOB_HUMAN	0			26	9535	-	T	T	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Missense_Mutation	3136						
APOB	338		GRCh37	2	21232448	21232448	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000233242.1:c.7292A>G	p.Asp2431Gly	p.D2431G	ENST00000233242	NM_000384.2	2431	gAt/gGt	0																																																																																																																																																																																																																																												
APOBEC1	339	broad.mit.edu	GRCh37	12	7805333	7805333	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149648198		TCGA-06-2557-01	TCGA-06-2557-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000229304.4:c.143G>A	p.Arg48Gln	p.R48Q	ENST00000229304	NM_001644.3	48	cGg/cAg	0	T:0		1			T	R/Q	uc001qtb.2	protein_coding	YES	CCDS8579.1			143/711										0	c.(142-144)CGG>CAG			hmmpanther:PTHR13857,hmmpanther:PTHR13857:SF3,Pfam_domain:PF08210	apolipoprotein B mRNA editing enzyme			T:0.0002	ENSP00000229304		5-Mar	2.47E-05					3.07E-05		6.07E-05	rs149648198,COSM3399117	5-Mar	.		ENST00000229304	Transcript			cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	ENSG00000111701	g.chr12:7805333C>T	604			MODERATE		1.01	low	getma.org/?cm=msa&ty=f&p=ABEC1_HUMAN&rb=17&re=186&var=R48Q	NA	getma.org/?cm=var&var=hg19,12,7805333,C,T&fts=all	R48Q	--	--	1																																		APOBEC1_uc001qtc.2_Missense_Mutation_p.R3Q|APOBEC1_uc010sgf.1_Missense_Mutation_p.R48Q	0,1	1		benign(0.007)	p.R48Q	NM_001644	NP_001635		tolerated(0.66)	0,1	ABEC1_HUMAN	APOBEC1	HGNC	P41238	ABEC1_HUMAN					3	177	-			UPI000013C8F4	48					SNV	APOBEC1,missense_variant,p.Arg48Gln,ENST00000229304,NM_001644.3;APOBEC1,3_prime_UTR_variant,,ENST00000467171,;	uc001qtb.2	c.143G>A	164/879	2	2			c.143G>A						12	SNP	c.(142-144)CGG>CAG	20	20				0	Broad	apolipoprotein B mRNA editing enzyme			7805333		0.453	ENSG00000111701	770	g.chr12:7805333C>T	cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	Pancreas(135;929 1826 4531 10527 41012)			Pancreas(135;929 1826 4531 10527 41012)			38.023824	KEEP	8	12	-1	44	43	8	12	-1	48.098786	44	43	0.171717	1	0	0	0	0	1	0	0	0	--	--		0	T			APOBEC1_uc001qtc.2_Missense_Mutation_p.R3Q|APOBEC1_uc010sgf.1_Missense_Mutation_p.R48Q	81	GBM-06-2557-TP	p.R48Q	C	CCAGATCTTCCGGCTCATGCC	NM_001644	NP_001635	7805333	P41238	ABEC1_HUMAN	0			3	177	-	T	T			Missense_Mutation	48						
APOBEC1	0	broad.mit.edu	GRCh37	12	7805403	7805403	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01	TCGA-12-3650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000229304.4:c.73G>A	p.Val25Ile	p.V25I	ENST00000229304	NM_001644.3	25	Gtc/Atc	0	T:0	T:0	1	T:0		T	V/I	uc001qtb.2	protein_coding	YES	CCDS8579.1			73/711										0	c.(73-75)GTC>ATC			hmmpanther:PTHR13857,hmmpanther:PTHR13857:SF3	apolipoprotein B mRNA editing enzyme		T:0	T:0.0001	ENSP00000229304	T:0.001	5-Mar	0.000115		8.74E-05		0.000152	0.000174			rs200390394,COSM3399118	5-Mar	.		ENST00000229304	Transcript			cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	ENSG00000111701	g.chr12:7805403C>T	604			MODERATE		0.92	low	getma.org/?cm=msa&ty=f&p=ABEC1_HUMAN&rb=17&re=186&var=V25I	NA	getma.org/?cm=var&var=hg19,12,7805403,C,T&fts=all	V25I	--	--	1																																		APOBEC1_uc001qtc.2_5'UTR|APOBEC1_uc010sgf.1_Missense_Mutation_p.V25I	0,1	1		benign(0.007)	p.V25I	NM_001644	NP_001635	T:0	tolerated(0.22)	0,1	ABEC1_HUMAN	APOBEC1	HGNC	P41238	ABEC1_HUMAN					3	107	-			UPI000013C8F4	25					SNV	APOBEC1,missense_variant,p.Val25Ile,ENST00000229304,NM_001644.3;APOBEC1,synonymous_variant,p.=,ENST00000467171,;	uc001qtb.2	c.73G>A	94/879	1	1			c.73G>A						12	SNP	c.(73-75)GTC>ATC	14	14				0	Broad	apolipoprotein B mRNA editing enzyme			7805403		0.483	ENSG00000111701	770	g.chr12:7805403C>T	cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	Pancreas(135;929 1826 4531 10527 41012)			Pancreas(135;929 1826 4531 10527 41012)			81.828142	KEEP	18	15	-1	44	29	18	15	-1	84.495674	44	29	0.318681	1	0	0	0	0	1	0	0	0	--	--		0	T			APOBEC1_uc001qtc.2_5'UTR|APOBEC1_uc010sgf.1_Missense_Mutation_p.V25I	126	GBM-12-3650-TP	p.V25I	C	TCATAGAAGACGTCAAACTCC	NM_001644	NP_001635	7805403	P41238	ABEC1_HUMAN	0			3	107	-	T	T			Missense_Mutation	25						
APOBEC1	0	broad.mit.edu	GRCh37	12	7803627	7803627	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-2631-01	TCGA-19-2631-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000229304.4:c.553A>G	p.Ile185Val	p.I185V	ENST00000229304	NM_001644.3	185	Ata/Gta	0			1			C	I/V	uc001qtb.2	protein_coding	YES	CCDS8579.1			553/711										0	c.(553-555)ATA>GTA			hmmpanther:PTHR13857,hmmpanther:PTHR13857:SF3	apolipoprotein B mRNA editing enzyme				ENSP00000229304		5-Apr									COSM3399116	5-Apr	.		ENST00000229304	Transcript			cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	ENSG00000111701	g.chr12:7803627T>C	604			MODERATE		2.4	medium	getma.org/?cm=msa&ty=f&p=ABEC1_HUMAN&rb=17&re=186&var=I185V	NA	getma.org/?cm=var&var=hg19,12,7803627,T,C&fts=all	I185V	--	--	1																																		APOBEC1_uc001qtc.2_Missense_Mutation_p.I140V|APOBEC1_uc010sgf.1_Missense_Mutation_p.I185V	1	1		benign(0.3)	p.I185V	NM_001644	NP_001635		deleterious(0.05)	1	ABEC1_HUMAN	APOBEC1	HGNC	P41238	ABEC1_HUMAN					4	587	-			UPI000013C8F4	185			Leu-rich.		SNV	APOBEC1,missense_variant,p.Ile185Val,ENST00000229304,NM_001644.3;APOBEC1,3_prime_UTR_variant,,ENST00000467171,;	uc001qtb.2	c.553A>G	574/879	3	3			c.553A>G						12	SNP	c.(553-555)ATA>GTA	54	54				0	Broad	apolipoprotein B mRNA editing enzyme			7803627		0.433	ENSG00000111701	770	g.chr12:7803627T>C	cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	Pancreas(135;929 1826 4531 10527 41012)			Pancreas(135;929 1826 4531 10527 41012)			-56.401209	KEEP	3	2	-1	127	141	3	2	-1	6.403959	127	141	0.016807	1	0	0	0	0	1	0	0	0	--	--		0	C			APOBEC1_uc001qtc.2_Missense_Mutation_p.I140V|APOBEC1_uc010sgf.1_Missense_Mutation_p.I185V	167	GBM-19-2631-TP	p.I185V	T	ACTAGAATTATGCAGTGCAGC	NM_001644	NP_001635	7803627	P41238	ABEC1_HUMAN	0			4	587	-	C	C			Missense_Mutation	185			Leu-rich.			
APOBEC2	10930		GRCh37	6	41029317	41029317	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000244669.2:c.382T>C	p.Cys128Arg	p.C128R	ENST00000244669	NM_006789.3	128	Tgt/Cgt	0																																																																																																																																																																																																																																												
APOBEC3A	0	broad.mit.edu	GRCh37	22	39355652	39355652	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-1597-01	TCGA-12-1597-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000249116.2:c.135G>A	p.Ser45=	p.S45=	ENST00000249116	NM_145699.3	45	tcG/tcA	0	A:0	A:0	1	A:0.0014		A	S	uc003awn.2	protein_coding		CCDS13981.1			135/600									ovary(1)	1	c.(133-135)TCG>TCA			hmmpanther:PTHR13857,hmmpanther:PTHR13857:SF14	phorbolin 1		A:0	A:0.0002	ENSP00000249116	A:0.001	5-Feb	0.000189		0.000518	0.000578		0.000165		6.06E-05	rs193155851,COSM3405671	5-Feb	common_variant		ENST00000249116	Transcript		A:0.0006	cellular response to xenobiotic stimulus|defense response to virus|DNA cytosine deamination|DNA demethylation|innate immune response|negative regulation of transposition|negative regulation of viral genome replication	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding	ENSG00000128383	g.chr22:39355652G>A	17343			LOW								--	--	1																																		APOBEC3A_uc011aob.1_Silent_p.S27S|APOBEC3A_uc011aoc.1_Silent_p.S45S	0,1				p.S45S	NM_145699	NP_663745	A:0.001		0,1	ABC3A_HUMAN	APOBEC3A	HGNC	P31941	ABC3A_HUMAN					2	305	+	Melanoma(58;0.04)		UPI00001318F4	45					SNV	APOBEC3A,synonymous_variant,p.=,ENST00000402255,;APOBEC3A,synonymous_variant,p.=,ENST00000249116,NM_145699.3,NM_001270406.1;APOBEC3A,non_coding_transcript_exon_variant,,ENST00000488758,;	uc003awn.2	c.135G>A	305/1444	2	2			c.135G>A						22	SNP	c.(133-135)TCG>TCA	35	35			ovary(1)	1	Broad	phorbolin 1			39355652		0.532	ENSG00000128383	772	g.chr22:39355652G>A	cellular response to xenobiotic stimulus|defense response to virus|DNA cytosine deamination|DNA demethylation|innate immune response|negative regulation of transposition|negative regulation of viral genome replication	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding							91.451804	KEEP	15	16	-1	33	25	15	16	-1	93.112174	33	25	0.349398	1	0	0	0	0	0	0	1	0	--	--		0	A			APOBEC3A_uc011aob.1_Silent_p.S27S|APOBEC3A_uc011aoc.1_Silent_p.S45S	124	GBM-12-1597-TP	p.S45S	G	ATGGCACCTCGGTCAAGATGG	NM_145699	NP_663745	39355652	P31941	ABC3A_HUMAN	0			2	305	+	A	A	Melanoma(58;0.04)		Silent	45						
APOBEC3A	0	broad.mit.edu	GRCh37	22	39357613	39357613	+	synonymous_variant	Silent	SNP	C	C	T	rs141631289		TCGA-14-0787-01	TCGA-14-0787-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000249116.2:c.396C>T	p.Tyr132=	p.Y132=	ENST00000249116	NM_145699.3	132	taC/taT	0	T:0.0002		1			T	Y	uc003awn.2	protein_coding		CCDS13981.1			396/600									ovary(1)	1	c.(394-396)TAC>TAT			hmmpanther:PTHR13857,hmmpanther:PTHR13857:SF14,Superfamily_domains:SSF53927	phorbolin 1			T:0.0002	ENSP00000249116		5-Mar	0.000921	0.00021	0.000445	0.000376	0.000159	0.000407		0.00408	rs141631289,COSM726299	5-Mar	common_variant		ENST00000249116	Transcript			cellular response to xenobiotic stimulus|defense response to virus|DNA cytosine deamination|DNA demethylation|innate immune response|negative regulation of transposition|negative regulation of viral genome replication	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding	ENSG00000128383	g.chr22:39357613C>T	17343			LOW								--	--	1																																		APOBEC3A_uc011aob.1_Silent_p.Y114Y|APOBEC3A_uc011aoc.1_Silent_p.Y132Y	0,1				p.Y132Y	NM_145699	NP_663745			0,1	ABC3A_HUMAN	APOBEC3A	HGNC	P31941	ABC3A_HUMAN					3	566	+	Melanoma(58;0.04)		UPI00001318F4	132					SNV	APOBEC3A,synonymous_variant,p.=,ENST00000402255,;APOBEC3A,synonymous_variant,p.=,ENST00000249116,NM_145699.3,NM_001270406.1;APOBEC3A,downstream_gene_variant,,ENST00000488758,;	uc003awn.2	c.396C>T	566/1444	1	1			c.396C>T						22	SNP	c.(394-396)TAC>TAT	4	4			ovary(1)	1	Broad	phorbolin 1			39357613		0.572	ENSG00000128383	772	g.chr22:39357613C>T	cellular response to xenobiotic stimulus|defense response to virus|DNA cytosine deamination|DNA demethylation|innate immune response|negative regulation of transposition|negative regulation of viral genome replication	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding							109.994733	KEEP	26	20	-1	5	8	26	20	-1	113.161235	5	8	0.785714	1	0	0	0	0	0	0	1	0	--	--		0	T			APOBEC3A_uc011aob.1_Silent_p.Y114Y|APOBEC3A_uc011aoc.1_Silent_p.Y132Y	135	GBM-14-0787-TP	p.Y132Y	C	TCTATGATTACGACCCCCTAT	NM_145699	NP_663745	39357613	P31941	ABC3A_HUMAN	0			3	566	+	T	T	Melanoma(58;0.04)		Silent	132						
APOBEC3F	0	broad.mit.edu	GRCh37	22	39436982	39436982	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01	TCGA-32-4208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308521.5:c.17G>A	p.Arg6Lys	p.R6K	ENST00000308521	NM_145298.5	6	aGa/aAa	0			1			A	R/K	uc003aww.2	protein_coding	YES	CCDS33648.1			17/1122										0	c.(16-18)AGA>AAA			hmmpanther:PTHR13857,hmmpanther:PTHR13857:SF24	apolipoprotein B mRNA editing enzyme, catalytic				ENSP00000309749		7-Jan									COSM3405673,COSM3405672	7-Jan	.		ENST00000308521	Transcript			base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding	ENSG00000128394	g.chr22:39436982G>A	17356			MODERATE		2.87	medium	getma.org/?cm=msa&ty=f&p=ABC3F_HUMAN&rb=3&re=189&var=R6K	NA	getma.org/?cm=var&var=hg19,22,39436982,G,A&fts=all	R6K	--	--	1																																		APOBEC3F_uc003awv.2_Missense_Mutation_p.R6K|APOBEC3F_uc011aog.1_Missense_Mutation_p.R6K	1,1	1		probably_damaging(0.982)	p.R6K	NM_145298	NP_660341		deleterious(0)	1,1	ABC3F_HUMAN	APOBEC3F	HGNC	Q9HC16	ABC3G_HUMAN			B4DGW8_HUMAN		1	310	+	Melanoma(58;0.04)		UPI000016074C	6					SNV	APOBEC3F,missense_variant,p.Arg6Lys,ENST00000308521,NM_145298.5;APOBEC3G,missense_variant,p.Arg6Lys,ENST00000452957,;APOBEC3F,missense_variant,p.Arg6Lys,ENST00000381565,NM_001006666.1;APOBEC3F,intron_variant,,ENST00000491387,;APOBEC3F,upstream_gene_variant,,ENST00000476513,;	uc003aww.2	c.17G>A	374/2694	2	2			c.17G>A						22	SNP	c.(16-18)AGA>AAA	21	21				0	Broad	apolipoprotein B mRNA editing enzyme, catalytic			39436982		0.647	ENSG00000128394	776	g.chr22:39436982G>A	base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding							5.040567	KEEP	0	3	-1	6	9	0	3	-1	6.76094	6	9	0.142857	1	0	0	0	0	1	0	0	0	--	--		0	A			APOBEC3F_uc003awv.2_Missense_Mutation_p.R6K|APOBEC3F_uc011aog.1_Missense_Mutation_p.R6K	243	GBM-32-4208-TP	p.R6K	G	CCTCACTTCAGGTACCGCTGC	NM_145298	NP_660341	39436982	Q9HC16	ABC3G_HUMAN	0			1	310	+	A	A	Melanoma(58;0.04)		Missense_Mutation	6						
APOBEC3F	0	broad.mit.edu	GRCh37	22	39448100	39448100	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6193-01	TCGA-76-6193-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308521.5:c.745C>A	p.His249Asn	p.H249N	ENST00000308521	NM_145298.5	249	Cat/Aat	0			1			A	H/N	uc003aww.2	protein_coding	YES	CCDS33648.1			745/1122										0	c.(745-747)CAT>AAT			Superfamily_domains:SSF53927,Pfam_domain:PF08210,PROSITE_patterns:PS00903,hmmpanther:PTHR13857,hmmpanther:PTHR13857:SF24	apolipoprotein B mRNA editing enzyme, catalytic				ENSP00000309749		7-Jun									COSM3405674	7-Jun	.		ENST00000308521	Transcript			base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding	ENSG00000128394	g.chr22:39448100C>A	17356			MODERATE		3.375	medium	getma.org/?cm=msa&ty=f&p=ABC3F_HUMAN&rb=199&re=373&var=H249N	getma.org/pdb.php?prot=ABC3F_HUMAN&from=199&to=373&var=H249N	getma.org/?cm=var&var=hg19,22,39448100,C,A&fts=all	H249N	--	--	1																																			1	1		probably_damaging(0.998)	p.H249N	NM_145298	NP_660341		deleterious(0)	1	ABC3F_HUMAN	APOBEC3F	HGNC	Q9HC16	ABC3G_HUMAN			B4DGW8_HUMAN		6	1038	+	Melanoma(58;0.04)		UPI000016074C	257	H->A: Decreases cytidine deaminase activity.			Zinc (By similarity).	SNV	APOBEC3F,missense_variant,p.His249Asn,ENST00000308521,NM_145298.5;APOBEC3G,intron_variant,,ENST00000452957,;APOBEC3F,non_coding_transcript_exon_variant,,ENST00000476513,;	uc003aww.2	c.745C>A	1102/2694	1	1			c.745C>A						22	SNP	c.(745-747)CAT>AAT	62	62				0	Broad	apolipoprotein B mRNA editing enzyme, catalytic			39448100		0.572	ENSG00000128394	776	g.chr22:39448100C>A	base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding							81.979596	KEEP	29	32	0.524590164	129	152	29	32	0.524590164	97.056438	129	152	0.202186	1	0	0	0	0	1	0	0	0	--	--		0	A				276	GBM-76-6193-TP	p.H249N	C	GACCCATTGTCATGCAGAAAG	NM_145298	NP_660341	39448100	Q9HC16	ABC3G_HUMAN	0			6	1038	+	A	A	Melanoma(58;0.04)		Missense_Mutation	257	H->A: Decreases cytidine deaminase activity.			Zinc (By similarity).		
APOBEC3G	0	broad.mit.edu	GRCh37	22	39479797	39479797	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6701-01	TCGA-06-6701-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000407997.3:c.643C>T	p.Arg215Trp	p.R215W	ENST00000407997	NM_021822.3	215	Cgg/Tgg	0			1			T	R/W	uc003awx.2	protein_coding	YES	CCDS13984.1			643/1155									central_nervous_system(1)|skin(1)	2	c.(643-645)CGG>TGG			hmmpanther:PTHR13857,hmmpanther:PTHR13857:SF23,Pfam_domain:PF08210	apolipoprotein B mRNA editing enzyme, catalytic				ENSP00000385057		8-May	8.24E-06							6.06E-05	rs757807279,COSM3151815,COSM3151816	8-May	.		ENST00000407997	Transcript			base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding	ENSG00000239713	g.chr22:39479797C>T	17357			MODERATE		2.155	medium	getma.org/?cm=msa&ty=f&p=ABC3G_HUMAN&rb=202&re=380&var=R215W	getma.org/pdb.php?prot=ABC3G_HUMAN&from=202&to=380&var=R215W	getma.org/?cm=var&var=hg19,22,39479797,C,T&fts=all	R215W	--	--	1																																		APOBEC3G_uc003awy.2_Missense_Mutation_p.R148W	0,1,1	1		benign(0.031)	p.R215W	NM_021822	NP_068594		tolerated(0.09)	0,1,1	ABC3G_HUMAN	APOBEC3G	HGNC	Q9HC16	ABC3G_HUMAN			B2LYL6_HUMAN		5	985	+	Melanoma(58;0.04)		UPI00000709E2	215					SNV	APOBEC3G,missense_variant,p.Arg215Trp,ENST00000407997,NM_021822.3;APOBEC3G,missense_variant,p.Arg215Trp,ENST00000452957,;APOBEC3G,non_coding_transcript_exon_variant,,ENST00000461827,;APOBEC3G,downstream_gene_variant,,ENST00000486357,;APOBEC3G,downstream_gene_variant,,ENST00000494150,;APOBEC3G,downstream_gene_variant,,ENST00000481958,;APOBEC3G,downstream_gene_variant,,ENST00000463934,;APOBEC3G,downstream_gene_variant,,ENST00000480000,;	uc003awx.2	c.643C>T	1000/1834	1	1			c.643C>T						22	SNP	c.(643-645)CGG>TGG	13	13			central_nervous_system(1)|skin(1)	2	Broad	apolipoprotein B mRNA editing enzyme, catalytic			39479797		0.522	ENSG00000239713	777	g.chr22:39479797C>T	base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding							167.048127	KEEP	35	28	-1	19	38	35	28	-1	167.065492	19	38	0.513274	1	0	0	0	0	1	0	0	0	--	--		0	T			APOBEC3G_uc003awy.2_Missense_Mutation_p.R148W	115	GBM-06-6701-TP	p.R215W	C	GGTCAGAGGACGGCATGAGAC	NM_021822	NP_068594	39479797	Q9HC16	ABC3G_HUMAN	0			5	985	+	T	T	Melanoma(58;0.04)		Missense_Mutation	215						
APOBEC3H	0	broad.mit.edu	GRCh37	22	39497965	39497965	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000401756.1:c.461C>T	p.Pro154Leu	p.P154L	ENST00000401756	NM_001166003.1	154	cCg/cTg	0			1			T	P/L	uc011aoh.1	protein_coding	YES	CCDS54530.1			461/603									ovary(1)|central_nervous_system(1)	2	c.(460-462)CCG>CTG			Superfamily_domains:SSF53927,Pfam_domain:PF08210,hmmpanther:PTHR13857,hmmpanther:PTHR13857:SF25	apolipoprotein B mRNA editing enzyme, catalytic				ENSP00000385741		6-Apr									COSM2154811	6-Apr	.		ENST00000401756	Transcript			DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding	ENSG00000100298	g.chr22:39497965C>T	24100			MODERATE		1.95	medium	getma.org/?cm=msa&ty=f&p=ABC3H_HUMAN&rb=116&re=174&var=P154L	getma.org/pdb.php?prot=ABC3H_HUMAN&from=116&to=174&var=P154L	getma.org/?cm=var&var=hg19,22,39497965,C,T&fts=all	P154L	--	--	1																																		APOBEC3H_uc011aoi.1_RNA|APOBEC3H_uc003axa.3_RNA	1	1		probably_damaging(0.997)	p.P154L	NM_181773	NP_861438		deleterious(0.01)	1	ABC3H_HUMAN	APOBEC3H	HGNC	Q6NTF7	ABC3H_HUMAN					4	527	+	Melanoma(58;0.04)		UPI00002077A2	154					SNV	APOBEC3H,missense_variant,p.Pro154Leu,ENST00000442487,NM_181773.3;APOBEC3H,missense_variant,p.Pro154Leu,ENST00000348946,NM_001166002.1;APOBEC3H,missense_variant,p.Pro154Leu,ENST00000401756,NM_001166003.1;APOBEC3H,intron_variant,,ENST00000421988,NM_001166004.1;APOBEC3H,downstream_gene_variant,,ENST00000474235,;	uc011aoh.1	c.461C>T	537/1023	1	1			c.461C>T						22	SNP	c.(460-462)CCG>CTG	4	4			ovary(1)|central_nervous_system(1)	2	Broad	apolipoprotein B mRNA editing enzyme, catalytic			39497965		0.537	ENSG00000100298	778	g.chr22:39497965C>T	DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding							181.757503	KEEP	30	34	-1	52	40	30	34	-1	182.809766	52	40	0.407143	1	0	0	0	0	1	0	0	0	--	--		0	T			APOBEC3H_uc011aoi.1_RNA|APOBEC3H_uc003axa.3_RNA	139	GBM-14-0817-TP	p.P154L	C	CACGAGAAACCGCTTTCCTTC	NM_181773	NP_861438	39497965	Q6NTF7	ABC3H_HUMAN	0			4	527	+	T	T	Melanoma(58;0.04)		Missense_Mutation	154						
APOF	319	broad.mit.edu	GRCh37	12	56755194	56755194	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0132-01	TCGA-06-0132-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398189.3:c.796G>A	p.Ala266Thr	p.A266T	ENST00000398189	NM_001638.2	266	Gca/Aca	0			1			T	A/T	uc001sle.1	protein_coding	YES	CCDS44923.1			796/981										0	c.(796-798)GCA>ACA			hmmpanther:PTHR15011,hmmpanther:PTHR15011:SF3	apolipoprotein F precursor				ENSP00000381250		2-Feb	5.79E-05					4.50E-05		0.000242	rs758037147,COSM3398902	2-Feb	.		ENST00000398189	Transcript			cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding	ENSG00000175336	g.chr12:56755194C>T	615			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=APOF_HUMAN&rb=6&re=308&var=A266T	NA	getma.org/?cm=var&var=hg19,12,56755194,C,T&fts=all	A266T	--	--	1																																			0,1	1		benign(0.015)	p.A266T	NM_001638	NP_001629		tolerated(0.34)	0,1	APOF_HUMAN	APOF	HGNC	Q13790	APOF_HUMAN			F5GXS5_HUMAN		2	850	-			UPI0000167B1E	266					SNV	APOF,missense_variant,p.Ala266Thr,ENST00000398189,NM_001638.2;APOF,missense_variant,p.Ala248Thr,ENST00000541105,;STAT2,upstream_gene_variant,,ENST00000314128,;STAT2,upstream_gene_variant,,ENST00000557235,NM_005419.3,NM_198332.1;STAT2,upstream_gene_variant,,ENST00000418572,;STAT2,upstream_gene_variant,,ENST00000556140,;STAT2,upstream_gene_variant,,ENST00000557417,;STAT2,upstream_gene_variant,,ENST00000555646,;	uc001sle.1	c.796G>A	874/1715	2	2			c.796G>A						12	SNP	c.(796-798)GCA>ACA	22	22				0	Broad	apolipoprotein F precursor			56755194		0.493	ENSG00000175336	785	g.chr12:56755194C>T	cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding							-27.084657	KEEP	3	3	-1	91	91	3	3	-1	10.817878	91	91	0.03681	1	0	0	0	0	1	0	0	0	--	--		0	T				17	GBM-06-0132-TP	p.A266T	C	GAGATGTTTGCGTCTTTCTGA	NM_001638	NP_001629	56755194	Q13790	APOF_HUMAN	0			2	850	-	T	T			Missense_Mutation	266						
APOF	319	broad.mit.edu	GRCh37	12	56755752	56755752	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0158-01	TCGA-06-0158-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398189.3:c.238G>C	p.Ala80Pro	p.A80P	ENST00000398189	NM_001638.2	80	Gcc/Ccc	0			1			G	A/P	uc001sle.1	protein_coding	YES	CCDS44923.1			238/981										0	c.(238-240)GCC>CCC			hmmpanther:PTHR15011,hmmpanther:PTHR15011:SF3,Pfam_domain:PF15148	apolipoprotein F precursor				ENSP00000381250		2-Feb									COSM2150100	2-Feb	.		ENST00000398189	Transcript			cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding	ENSG00000175336	g.chr12:56755752C>G	615			MODERATE		0.57	neutral	getma.org/?cm=msa&ty=f&p=APOF_HUMAN&rb=6&re=308&var=A80P	NA	getma.org/?cm=var&var=hg19,12,56755752,C,G&fts=all	A80P	--	--	1																																			1	1		benign(0.084)	p.A80P	NM_001638	NP_001629		tolerated(0.36)	1	APOF_HUMAN	APOF	HGNC	Q13790	APOF_HUMAN			F5GXS5_HUMAN		2	292	-			UPI0000167B1E	80					SNV	APOF,missense_variant,p.Ala80Pro,ENST00000398189,NM_001638.2;APOF,missense_variant,p.Ala62Pro,ENST00000541105,;STAT2,upstream_gene_variant,,ENST00000314128,;STAT2,upstream_gene_variant,,ENST00000557235,NM_005419.3,NM_198332.1;STAT2,upstream_gene_variant,,ENST00000418572,;STAT2,upstream_gene_variant,,ENST00000556140,;STAT2,upstream_gene_variant,,ENST00000557417,;STAT2,upstream_gene_variant,,ENST00000555646,;	uc001sle.1	c.238G>C	316/1715	3	3			c.238G>C						12	SNP	c.(238-240)GCC>CCC	51	51				0	Broad	apolipoprotein F precursor			56755752		0.547	ENSG00000175336	785	g.chr12:56755752C>G	cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding							247.004706	KEEP	36	40	-1	47	41	36	40	-1	247.463817	47	41	0.442308	1	0	0	0	0	1	0	0	0	--	--		0	G				29	GBM-06-0158-TP	p.A80P	C	GGTAGAGGGGCCATGTGGCTG	NM_001638	NP_001629	56755752	Q13790	APOF_HUMAN	0			2	292	-	G	G			Missense_Mutation	80						
APP	0	broad.mit.edu	GRCh37	21	27369692	27369692	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000346798.3:c.1073C>T	p.Ala358Val	p.A358V	ENST00000346798	NM_000484.3	358	gCc/gTc	0			1			A	A/V	uc002ylz.2	protein_coding	YES	CCDS13576.1			1073/2313									ovary(1)	1	c.(1072-1074)GCC>GTC			hmmpanther:PTHR23103,hmmpanther:PTHR23103:SF7	amyloid beta A4 protein isoform a precursor				ENSP00000284981		18-Aug									COSM3405329	18-Aug	.		ENST00000346798	Transcript	1		adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	ENSG00000142192	g.chr21:27369692G>A	620			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=A4_HUMAN&rb=313&re=392&var=A358V	getma.org/pdb.php?prot=A4_HUMAN&from=343&to=362&var=A358V	getma.org/?cm=var&var=hg19,21,27369692,G,A&fts=all	A358V	--	--	1																																		APP_uc010glk.2_Intron|APP_uc002yma.2_Intron|APP_uc011ach.1_Missense_Mutation_p.A302V|APP_uc002ymb.2_Intron|APP_uc010glj.2_Intron|APP_uc011aci.1_Intron	1	1		benign(0.002)	p.A358V	NM_000484	NP_000475		tolerated(0.52)	1	A4_HUMAN	APP	HGNC	P05067	A4_HUMAN			L7XE61_HUMAN,L7XCZ9_HUMAN,B7Z313_HUMAN		8	1273	-		Breast(209;0.00295)	UPI000002DB1C	358			Extracellular (Potential).		SNV	APP,missense_variant,p.Ala358Val,ENST00000358918,NM_001204302.1,NM_001204301.1;APP,missense_variant,p.Ala358Val,ENST00000346798,NM_000484.3;APP,missense_variant,p.Ala302Val,ENST00000359726,;APP,missense_variant,p.Ala302Val,ENST00000439274,NM_001136130.2;APP,missense_variant,p.Ala93Val,ENST00000415997,;APP,intron_variant,,ENST00000357903,NM_201413.2;APP,intron_variant,,ENST00000348990,NM_001204303.1,NM_201414.2;APP,intron_variant,,ENST00000354192,NM_001136129.2;APP,intron_variant,,ENST00000440126,NM_001136016.3;APP,intron_variant,,ENST00000448388,NM_001136131.2;APP,intron_variant,,ENST00000448850,;APP,non_coding_transcript_exon_variant,,ENST00000491395,;	uc002ylz.2	c.1073C>T	1107/3467	1	1			c.1073C>T						21	SNP	c.(1072-1074)GCC>GTC	60	60			ovary(1)	1	Broad	amyloid beta A4 protein isoform a precursor			27369692		0.438	ENSG00000142192	797	g.chr21:27369692G>A	adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity							-13.55639	KEEP	1	2	-1	58	48	1	2	-1	6.968251	58	48	0.034483	1	0	0	0	0	1	0	0	0	--	--		0	A			APP_uc010glk.2_Intron|APP_uc002yma.2_Intron|APP_uc011ach.1_Missense_Mutation_p.A302V|APP_uc002ymb.2_Intron|APP_uc010glj.2_Intron|APP_uc011aci.1_Intron	235	GBM-32-2491-TP	p.A358V	G	AGGATCTCGGGCAAGAGGTTC	NM_000484	NP_000475	27369692	P05067	A4_HUMAN	0			8	1273	-	A	A		Breast(209;0.00295)	Missense_Mutation	358			Extracellular (Potential).			
APPBP2	10513		GRCh37	17	58603208	58603208	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000083182.3:c.85C>T	p.Arg29Cys	p.R29C	ENST00000083182	NM_006380.2	29	Cgc/Tgc	0																																																																																																																																																																																																																																												
APPL1	26060	broad.mit.edu	GRCh37	3	57302493	57302493	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs144769112		TCGA-06-0646-01	TCGA-06-0646-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288266.3:c.1961A>G	p.Asn654Ser	p.N654S	ENST00000288266	NM_012096.2	654	aAt/aGt	0	G:0.0007	G:0.0015	1	G:0		G	N/S	uc003dio.2	protein_coding	YES	CCDS2882.1			1961/2130									breast(1)	1	c.(1960-1962)AAT>AGT			Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg	adaptor protein, phosphotyrosine interaction, PH		G:0	G:0.0007	ENSP00000288266	G:0.001	21/22	0.00042	0.000562			0.00034	0.000786			rs144769112,COSM2151318	21/22	common_variant		ENST00000288266	Transcript		G:0.0006	apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	ENSG00000157500	g.chr3:57302493A>G	24035			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=DP13A_HUMAN&rb=496&re=656&var=N654S	NA	getma.org/?cm=var&var=hg19,3,57302493,A,G&fts=all	N654S	--	--	1																																		APPL1_uc011bey.1_Missense_Mutation_p.N637S|ASB14_uc003dip.1_3'UTR|ASB14_uc003diq.2_3'UTR	0,1	1		benign(0)	p.N654S	NM_012096	NP_036228	G:0	tolerated(0.99)	0,1	DP13A_HUMAN	APPL1	HGNC	Q9UKG1	DP13A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)			21	2108	+			UPI00000712DA	654			PID.|Potential.		SNV	APPL1,missense_variant,p.Asn654Ser,ENST00000288266,NM_012096.2;ASB14,3_prime_UTR_variant,,ENST00000487349,NM_001142733.2,NM_130387.5;ASB14,3_prime_UTR_variant,,ENST00000389601,NM_130387.5;APPL1,downstream_gene_variant,,ENST00000482800,;APPL1,downstream_gene_variant,,ENST00000488530,;	uc003dio.2	c.1961A>G	2108/6058	3	3			c.1961A>G						3	SNP	c.(1960-1962)AAT>AGT	64	64			breast(1)	1	Broad	adaptor protein, phosphotyrosine interaction, PH			57302493		0.209	ENSG00000157500	799	g.chr3:57302493A>G	apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding							74.890284	KEEP	10	10	-1	15	20	10	10	-1	75.496496	15	20	0.384615	1	0	0	0	0	1	0	0	0	--	--		0	G			APPL1_uc011bey.1_Missense_Mutation_p.N637S|ASB14_uc003dip.1_3'UTR|ASB14_uc003diq.2_3'UTR	60	GBM-06-0646-TP	p.N654S	A	aaagaactcaataaacaaaaa	NM_012096	NP_036228	57302493	Q9UKG1	DP13A_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)	21	2108	+	G	G			Missense_Mutation	654			PID.|Potential.			
AQP1	0	broad.mit.edu	GRCh37	7	30961834	30961834	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5220-01	TCGA-28-5220-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311813.4:c.538C>T	p.His180Tyr	p.H180Y	ENST00000311813	NM_198098.2	180	Cac/Tac	0			1			T	H/Y	uc003tbv.1	protein_coding	YES	CCDS5431.1			538/810										0	c.(538-540)CAC>TAC			Gene3D:1.20.1080.10,Pfam_domain:PF00230,Prints_domain:PR00783,hmmpanther:PTHR19139,hmmpanther:PTHR19139:SF33,Superfamily_domains:SSF81338,TIGRFAM_domain:TIGR00861,Transmembrane_helices:TMhelix	aquaporin 1	Acetazolamide(DB00819)			ENSP00000311165		4-Feb									COSM3411979,COSM3411980	4-Feb	.		ENST00000311813	Transcript	1		ammonium transport|cell volume homeostasis|cellular hyperosmotic response|cellular response to cAMP|cellular response to copper ion|cellular response to dexamethasone stimulus|cellular response to hydrogen peroxide|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to mercury ion|cellular response to nitric oxide|cellular response to retinoic acid|cellular response to salt stress|cellular response to UV|cerebrospinal fluid secretion|cGMP biosynthetic process|establishment or maintenance of actin cytoskeleton polarity|lateral ventricle development|maintenance of symbiont-containing vacuole via substance secreted by host|negative regulation of apoptosis|odontogenesis|pancreatic juice secretion|positive regulation of angiogenesis|positive regulation of fibroblast proliferation|positive regulation of saliva secretion|renal water transport|response to drug|transepithelial water transport	apical plasma membrane|basal plasma membrane|brush border membrane|cytoplasm|integral to plasma membrane|nuclear membrane|sarcolemma|symbiont-containing vacuole	ammonia transmembrane transporter activity|carbon dioxide transmembrane transporter activity|glycerol transmembrane transporter activity|intracellular cGMP activated cation channel activity|nitric oxide transmembrane transporter activity|potassium channel activity|potassium ion transmembrane transporter activity|protein binding|water channel activity	ENSG00000240583	g.chr7:30961834C>T	633			MODERATE		3.34	medium	getma.org/?cm=msa&ty=f&p=AQP1_HUMAN&rb=4&re=227&var=H180Y	getma.org/pdb.php?prot=AQP1_HUMAN&from=4&to=227&var=H180Y	getma.org/?cm=var&var=hg19,7,30961834,C,T&fts=all	H180Y	--	--	1																																		AQP1_uc011kac.1_Missense_Mutation_p.H240Y|AQP1_uc010kwf.1_Missense_Mutation_p.H97Y|AQP1_uc010kwg.1_Missense_Mutation_p.H61Y|AQP1_uc010kwh.1_Missense_Mutation_p.H129Y	1,1	1		probably_damaging(1)	p.H180Y	NM_198098	NP_932766		deleterious(0)	1,1	AQP1_HUMAN	AQP1	HGNC	P29972	AQP1_HUMAN			Q6JSD7_HUMAN,B4DNW4_HUMAN		2	595	+		Melanoma(862;0.16)	UPI000005339A	180			Helical; Name=Helix 5.	Substrate discrimination.	SNV	AQP1,missense_variant,p.His180Tyr,ENST00000311813,NM_198098.2;AQP1,missense_variant,p.His97Tyr,ENST00000441328,NM_001185060.1;AQP1,missense_variant,p.His240Tyr,ENST00000434909,;AQP1,missense_variant,p.His357Tyr,ENST00000509504,;AQP1,missense_variant,p.His129Tyr,ENST00000409611,NM_001185061.1;AQP1,missense_variant,p.His65Tyr,ENST00000409899,NM_001185062.1;AQP1,non_coding_transcript_exon_variant,,ENST00000482461,;	uc003tbv.1	c.538C>T	593/2752	2	2			c.538C>T						7	SNP	c.(538-540)CAC>TAC	48	48				0	Broad	aquaporin 1		Acetazolamide(DB00819)	30961834		0.692	ENSG00000240583	803	g.chr7:30961834C>T	ammonium transport|cell volume homeostasis|cellular hyperosmotic response|cellular response to cAMP|cellular response to copper ion|cellular response to dexamethasone stimulus|cellular response to hydrogen peroxide|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to mercury ion|cellular response to nitric oxide|cellular response to retinoic acid|cellular response to salt stress|cellular response to UV|cerebrospinal fluid secretion|cGMP biosynthetic process|establishment or maintenance of actin cytoskeleton polarity|lateral ventricle development|maintenance of symbiont-containing vacuole via substance secreted by host|negative regulation of apoptosis|odontogenesis|pancreatic juice secretion|positive regulation of angiogenesis|positive regulation of fibroblast proliferation|positive regulation of saliva secretion|renal water transport|response to drug|transepithelial water transport	apical plasma membrane|basal plasma membrane|brush border membrane|cytoplasm|integral to plasma membrane|nuclear membrane|sarcolemma|symbiont-containing vacuole	ammonia transmembrane transporter activity|carbon dioxide transmembrane transporter activity|glycerol transmembrane transporter activity|intracellular cGMP activated cation channel activity|nitric oxide transmembrane transporter activity|potassium channel activity|potassium ion transmembrane transporter activity|protein binding|water channel activity							74.977354	KEEP	10	18	-1	29	18	10	18	-1	75.846772	29	18	0.383562	1	0	0	0	0	1	0	0	0	--	--		0	T			AQP1_uc011kac.1_Missense_Mutation_p.H240Y|AQP1_uc010kwf.1_Missense_Mutation_p.H97Y|AQP1_uc010kwg.1_Missense_Mutation_p.H61Y|AQP1_uc010kwh.1_Missense_Mutation_p.H129Y	226	GBM-28-5220-TP	p.H180Y	C	AGCCCTTGGACACCTCCTGGC	NM_198098	NP_932766	30961834	P29972	AQP1_HUMAN	0			2	595	+	T	T		Melanoma(862;0.16)	Missense_Mutation	180			Helical; Name=Helix 5.	Substrate discrimination.		
AQP10	89872	broad.mit.edu	GRCh37	1	154294529	154294529	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01	TCGA-06-0241-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324978.3:c.226G>A	p.Val76Ile	p.V76I	ENST00000324978	NM_080429.2	76	Gtc/Atc	0			1			A	V/I	uc001feu.2	protein_coding	YES	CCDS1065.1			226/906									central_nervous_system(1)	1	c.(226-228)GTC>ATC			Transmembrane_helices:TMhelix,hmmpanther:PTHR19139:SF18,hmmpanther:PTHR19139,Pfam_domain:PF00230,TIGRFAM_domain:TIGR00861,Gene3D:1.20.1080.10,Superfamily_domains:SSF81338,Prints_domain:PR00783	aquaporin 10				ENSP00000318355		6-Feb	3.29E-05					6.35E-05			rs773423264,COSM2151184,COSM3399784	6-Feb	.		ENST00000324978	Transcript			response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	ENSG00000143595	g.chr1:154294529G>A	16029			MODERATE		0.505	neutral	getma.org/?cm=msa&ty=f&p=AQP10_HUMAN&rb=15&re=260&var=V76I	getma.org/pdb.php?prot=AQP10_HUMAN&from=15&to=260&var=V76I	getma.org/?cm=var&var=hg19,1,154294529,G,A&fts=all	V76I	--	--	1																																		AQP10_uc001fev.2_Missense_Mutation_p.V76I	0,1,1	1		benign(0.123)	p.V76I	NM_080429	NP_536354		tolerated(0.12)	0,1,1	AQP10_HUMAN	AQP10	HGNC	Q96PS8	AQP10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)				2	266	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		UPI000007028A	76			Cytoplasmic (Potential).		SNV	AQP10,missense_variant,p.Val76Ile,ENST00000484864,;AQP10,missense_variant,p.Val76Ile,ENST00000324978,NM_080429.2;ATP8B2,upstream_gene_variant,,ENST00000368487,NM_001005855.1;AQP10,intron_variant,,ENST00000355197,;ATP8B2,upstream_gene_variant,,ENST00000368490,;	uc001feu.2	c.226G>A	266/1791	2	2			c.226G>A						1	SNP	c.(226-228)GTC>ATC	28	28			central_nervous_system(1)	1	Broad	aquaporin 10			154294529		0.547	ENSG00000143595	804	g.chr1:154294529G>A	response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity							64.107885	KEEP	15	13	-1	20	25	15	13	-1	64.107885	20	25	0.5	1	0	0	0	0	1	0	0	0	--	--		0	A			AQP10_uc001fev.2_Missense_Mutation_p.V76I	57	GBM-06-0241-TP	p.V76I	G	GGGTGGTAACGTCTCAGGTGA	NM_080429	NP_536354	154294529	Q96PS8	AQP10_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.185)		2	266	+	A	A	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		Missense_Mutation	76			Cytoplasmic (Potential).			
AQP10	89872	broad.mit.edu	GRCh37	1	154294516	154294516	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2557-01	TCGA-06-2557-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324978.3:c.213C>T	p.Tyr71=	p.Y71=	ENST00000324978	NM_080429.2	71	taC/taT	0			1			T	Y	uc001feu.2	protein_coding	YES	CCDS1065.1			213/906									central_nervous_system(1)	1	c.(211-213)TAC>TAT			Transmembrane_helices:TMhelix,hmmpanther:PTHR19139:SF18,hmmpanther:PTHR19139,Pfam_domain:PF00230,TIGRFAM_domain:TIGR00861,Gene3D:1.20.1080.10,Superfamily_domains:SSF81338,Prints_domain:PR00783	aquaporin 10				ENSP00000318355		6-Feb									COSM3399782,COSM3399783	6-Feb	.		ENST00000324978	Transcript			response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	ENSG00000143595	g.chr1:154294516C>T	16029			LOW								--	--	1																																		AQP10_uc001fev.2_Silent_p.Y71Y	1,1	1			p.Y71Y	NM_080429	NP_536354			1,1	AQP10_HUMAN	AQP10	HGNC	Q96PS8	AQP10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)				2	253	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		UPI000007028A	71			Helical; (Potential).		SNV	AQP10,synonymous_variant,p.=,ENST00000484864,;AQP10,synonymous_variant,p.=,ENST00000324978,NM_080429.2;ATP8B2,upstream_gene_variant,,ENST00000368487,NM_001005855.1;AQP10,intron_variant,,ENST00000355197,;ATP8B2,upstream_gene_variant,,ENST00000368490,;	uc001feu.2	c.213C>T	253/1791	2	2			c.213C>T						1	SNP	c.(211-213)TAC>TAT	26	26			central_nervous_system(1)	1	Broad	aquaporin 10			154294516		0.557	ENSG00000143595	804	g.chr1:154294516C>T	response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity							27.204812	KEEP	8	8	-1	33	30	8	8	-1	29.881049	33	30	0.244444	1	0	0	0	0	0	0	1	0	--	--		0	T			AQP10_uc001fev.2_Silent_p.Y71Y	81	GBM-06-2557-TP	p.Y71Y	C	TAGCCATCTACGTGGGTGGTA	NM_080429	NP_536354	154294516	Q96PS8	AQP10_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.185)		2	253	+	T	T	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		Silent	71			Helical; (Potential).			
AQP10	89872	broad.mit.edu	GRCh37	1	154295505	154295505	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01	TCGA-06-2558-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324978.3:c.280C>T	p.Arg94Cys	p.R94C	ENST00000324978	NM_080429.2	94	Cgc/Tgc	0			1			T	R/C	uc001feu.2	protein_coding	YES	CCDS1065.1			280/906									central_nervous_system(1)	1	c.(280-282)CGC>TGC			hmmpanther:PTHR19139:SF18,hmmpanther:PTHR19139,Pfam_domain:PF00230,TIGRFAM_domain:TIGR00861,Gene3D:1.20.1080.10,Superfamily_domains:SSF81338	aquaporin 10				ENSP00000318355		6-Mar	1.65E-05	0.000192							rs775690026,COSM2152647,COSM3399785	6-Mar	.		ENST00000324978	Transcript			response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	ENSG00000143595	g.chr1:154295505C>T	16029			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=AQP10_HUMAN&rb=15&re=260&var=R94C	getma.org/pdb.php?prot=AQP10_HUMAN&from=15&to=260&var=R94C	getma.org/?cm=var&var=hg19,1,154295505,C,T&fts=all	R94C	--	--	1																																		AQP10_uc001fev.2_Missense_Mutation_p.R94C|ATP8B2_uc001few.2_5'Flank	0,1,1	1		benign(0.082)	p.R94C	NM_080429	NP_536354		deleterious(0.05)	0,1,1	AQP10_HUMAN	AQP10	HGNC	Q96PS8	AQP10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)				3	320	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		UPI000007028A	94			Cytoplasmic (Potential).		SNV	AQP10,missense_variant,p.Arg94Cys,ENST00000484864,;AQP10,missense_variant,p.Arg94Cys,ENST00000324978,NM_080429.2;ATP8B2,upstream_gene_variant,,ENST00000368489,NM_020452.3;ATP8B2,upstream_gene_variant,,ENST00000368487,NM_001005855.1;AQP10,non_coding_transcript_exon_variant,,ENST00000355197,;ATP8B2,upstream_gene_variant,,ENST00000368490,;	uc001feu.2	c.280C>T	320/1791	2	2			c.280C>T						1	SNP	c.(280-282)CGC>TGC	48	48			central_nervous_system(1)	1	Broad	aquaporin 10			154295505		0.468	ENSG00000143595	804	g.chr1:154295505C>T	response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity							206.043675	KEEP	48	39	-1	85	98	48	39	-1	212.607903	85	98	0.321888	1	0	0	0	0	1	0	0	0	--	--		0	T			AQP10_uc001fev.2_Missense_Mutation_p.R94C|ATP8B2_uc001few.2_5'Flank	82	GBM-06-2558-TP	p.R94C	C	CATCGTTGGACGCCTCCCCTG	NM_080429	NP_536354	154295505	Q96PS8	AQP10_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.185)		3	320	+	T	T	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		Missense_Mutation	94			Cytoplasmic (Potential).			
AQP10	0	broad.mit.edu	GRCh37	1	154296100	154296100	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-4210-01	TCGA-32-4210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324978.3:c.525G>C	p.Leu175Phe	p.L175F	ENST00000324978	NM_080429.2	175	ttG/ttC	0			1			C	L/F	uc001feu.2	protein_coding	YES	CCDS1065.1			525/906									central_nervous_system(1)	1	c.(523-525)TTG>TTC			Transmembrane_helices:TMhelix,hmmpanther:PTHR19139:SF18,hmmpanther:PTHR19139,Pfam_domain:PF00230,TIGRFAM_domain:TIGR00861,Gene3D:1.20.1080.10,Superfamily_domains:SSF81338,Prints_domain:PR00783	aquaporin 10				ENSP00000318355		6-May									COSM3399786,COSM3399787	6-May	.		ENST00000324978	Transcript			response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	ENSG00000143595	g.chr1:154296100G>C	16029			MODERATE		0.245	neutral	getma.org/?cm=msa&ty=f&p=AQP10_HUMAN&rb=15&re=260&var=L175F	getma.org/pdb.php?prot=AQP10_HUMAN&from=15&to=260&var=L175F	getma.org/?cm=var&var=hg19,1,154296100,G,C&fts=all	L175F	--	--	1																																		AQP10_uc001fev.2_Missense_Mutation_p.L175F|ATP8B2_uc001few.2_5'Flank	1,1	1		benign(0.35)	p.L175F	NM_080429	NP_536354		tolerated(0.34)	1,1	AQP10_HUMAN	AQP10	HGNC	Q96PS8	AQP10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)				5	565	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		UPI000007028A	175			Helical; (Potential).		SNV	AQP10,missense_variant,p.Leu175Phe,ENST00000484864,;AQP10,missense_variant,p.Leu175Phe,ENST00000324978,NM_080429.2;ATP8B2,upstream_gene_variant,,ENST00000368489,NM_020452.3;ATP8B2,upstream_gene_variant,,ENST00000368487,NM_001005855.1;AQP10,non_coding_transcript_exon_variant,,ENST00000355197,;ATP8B2,upstream_gene_variant,,ENST00000368490,;	uc001feu.2	c.525G>C	565/1791	3	3			c.525G>C						1	SNP	c.(523-525)TTG>TTC	4	4			central_nervous_system(1)	1	Broad	aquaporin 10			154296100		0.607	ENSG00000143595	804	g.chr1:154296100G>C	response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity							-116.506663	KEEP	7	4	-1	272	324	7	4	-1	16.202164	272	324	0.017787	1	0	0	0	0	1	0	0	0	--	--		0	C			AQP10_uc001fev.2_Missense_Mutation_p.L175F|ATP8B2_uc001few.2_5'Flank	245	GBM-32-4210-TP	p.L175F	G	TGGGGCTCTTGGCCATCCTGG	NM_080429	NP_536354	154296100	Q96PS8	AQP10_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.185)		5	565	+	C	C	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		Missense_Mutation	175			Helical; (Potential).			
AQP12A	375318	broad.mit.edu	GRCh37	2	241631371	241631371	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337801.4:c.41C>T	p.Thr14Ile	p.T14I	ENST00000337801	NM_198998.2	14	aCc/aTc	0			1			T	T/I	uc002vzu.2	protein_coding	YES				41/888										0	c.(40-42)ACC>ATC			PIRSF_domain:PIRSF017529,hmmpanther:PTHR21191,hmmpanther:PTHR21191:SF8,Cleavage_site_(Signalp):SignalP-TM	aquaporin 12A				ENSP00000337144		4-Jan									COSM3407740	4-Jan	.		ENST00000337801	Transcript				integral to membrane	transporter activity	ENSG00000184945	g.chr2:241631371C>T	19941			MODERATE		0.95	low	getma.org/?cm=msa&ty=f&p=AQ12A_HUMAN&rb=1&re=36&var=T14I	NA	getma.org/?cm=var&var=hg19,2,241631371,C,T&fts=all	T14I	--	--	1																																		AQP12A_uc002vzv.2_Intron	1	1		benign(0.026)	p.T14I	NM_198998	NP_945349		tolerated(0.2)	1	AQ12A_HUMAN	AQP12A	HGNC	Q8IXF9	AQ12A_HUMAN		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)			1	110	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	UPI00000743B9	14			Helical; Name=1; (Potential).		SNV	AQP12A,missense_variant,p.Thr14Ile,ENST00000429564,;AQP12A,missense_variant,p.Thr14Ile,ENST00000337801,NM_198998.2;AC011298.2,downstream_gene_variant,,ENST00000407635,;AC011298.2,downstream_gene_variant,,ENST00000600041,;AQP12A,upstream_gene_variant,,ENST00000471878,;AQP12A,upstream_gene_variant,,ENST00000460527,;	uc002vzu.2	c.41C>T	110/1084	1	1			c.41C>T						2	SNP	c.(40-42)ACC>ATC	8	8				0	Broad	aquaporin 12A			241631371		0.677	ENSG00000184945	806	g.chr2:241631371C>T		integral to membrane	transporter activity							133.84393	KEEP	28	31	-1	81	53	28	31	-1	139.497202	81	53	0.305389	1	0	0	0	0	1	0	0	0	--	--		0	T			AQP12A_uc002vzv.2_Intron	65	GBM-06-0743-TP	p.T14I	C	TTCTTTGCCACCTTCGCCCTC	NM_198998	NP_945349	241631371	Q8IXF9	AQ12A_HUMAN	0		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)	1	110	+	T	T		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	Missense_Mutation	14			Helical; Name=1; (Potential).			
AQP12B	0	broad.mit.edu	GRCh37	2	241621969	241621969	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01	TCGA-27-2523-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000407834.3:c.286G>A	p.Val96Met	p.V96M	ENST00000407834	NM_001102467.1	96	Gtg/Atg	0		T:0	1	T:0.0014		T	V/M	uc010fzj.2	protein_coding	YES	CCDS46560.1			286/924										0	c.(286-288)GTG>ATG			Gene3D:1.20.1080.10,Pfam_domain:PF00230,PIRSF_domain:PIRSF017529,Prints_domain:PR00783,hmmpanther:PTHR21191,hmmpanther:PTHR21191:SF8,Superfamily_domains:SSF81338	aquaporin 12B		T:0		ENSP00000384894	T:0	3-Jan	1.65E-05		8.67E-05			1.52E-05			rs545420469,COSM3407739	3-Jan	.		ENST00000407834	Transcript		T:0.0002		integral to membrane	transporter activity	ENSG00000185176	g.chr2:241621969C>T	6096			MODERATE		2.36	medium	getma.org/?cm=msa&ty=f&p=H7C1C7_HUMAN&rb=1&re=200&var=V69M	NA	getma.org/?cm=var&var=hg19,2,241621969,C,T&fts=all	V69M	--	--	1																																		AQP12B_uc002vzt.2_Intron	0,1	1		probably_damaging(0.983)	p.V96M	NM_001102467	NP_001095937	T:0	deleterious(0.03)	0,1	AQ12B_HUMAN	AQP12B	HGNC	A6NM10	AQ12B_HUMAN		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)			1	349	-		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	UPI0000F705B9	84					SNV	AQP12B,missense_variant,p.Val96Met,ENST00000407834,NM_001102467.1;AC011298.1,downstream_gene_variant,,ENST00000599492,;AC011298.2,upstream_gene_variant,,ENST00000407635,;AQP12B,upstream_gene_variant,,ENST00000459806,;AQP12B,intron_variant,,ENST00000414322,;AQP12B,intron_variant,,ENST00000413999,;AQP12B,intron_variant,,ENST00000452886,;	uc010fzj.2	c.286G>A	349/1094	2	2			c.286G>A						2	SNP	c.(286-288)GTG>ATG	35	35				0	Broad	aquaporin 12B			241621969		0.687	ENSG00000185176	807	g.chr2:241621969C>T		integral to membrane	transporter activity							87.276102	KEEP	16	17	-1	14	19	16	17	-1	87.291685	14	19	0.517857	1	0	0	0	0	1	0	0	0	--	--		0	T			AQP12B_uc002vzt.2_Intron	201	GBM-27-2523-TP	p.V96M	C	TGCAGGGACACGGTGGGGTTG	NM_001102467	NP_001095937	241621969	A6NM10	AQ12B_HUMAN	0		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)	1	349	-	T	T		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	Missense_Mutation	84						
AQP2	359		GRCh37	12	50344911	50344911	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000199280.3:c.298G>A	p.Gly100Arg	p.G100R	ENST00000199280	NM_000486.5	100	Gga/Aga	0																																																																																																																																																																																																																																												
AQP5	362		GRCh37	12	50355944	50355944	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000293599.6:c.144G>A	p.Ala48=	p.A48=	ENST00000293599	NM_001651.3	48	gcG/gcA	0																																																																																																																																																																																																																																												
AQP8	0	broad.mit.edu	GRCh37	16	25232824	25232824	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000219660.5:c.307G>A	p.Gly103Arg	p.G103R	ENST00000219660	NM_001169.2	103	Gga/Aga	0			1			A	G/R	uc002doc.2	protein_coding	YES	CCDS10626.1			307/786									upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	3	c.(307-309)GGA>AGA			Gene3D:1.20.1080.10,Pfam_domain:PF00230,hmmpanther:PTHR19139,hmmpanther:PTHR19139:SF116,Superfamily_domains:SSF81338,Transmembrane_helices:TMhelix	aquaporin 8				ENSP00000219660		6-Mar									COSM3402206,COSM3402205	6-Mar	.		ENST00000219660	Transcript			cellular response to cAMP	integral to plasma membrane	water channel activity	ENSG00000103375	g.chr16:25232824G>A	642			MODERATE		2.04	medium	getma.org/?cm=msa&ty=f&p=AQP8_HUMAN&rb=29&re=245&var=G103R	getma.org/pdb.php?prot=AQP8_HUMAN&from=29&to=245&var=G103R	getma.org/?cm=var&var=hg19,16,25232824,G,A&fts=all	G103R	--	--	1																																			1,1	1		probably_damaging(0.967)	p.G103R	NM_001169	NP_001160		tolerated(0.06)	1,1	AQP8_HUMAN	AQP8	HGNC	O94778	AQP8_HUMAN		GBM - Glioblastoma multiforme(48;0.044)			3	389	+			UPI00001697EC	103			Helical; (Potential).		SNV	AQP8,missense_variant,p.Gly103Arg,ENST00000219660,NM_001169.2;AQP8,missense_variant,p.Gly97Arg,ENST00000566125,;	uc002doc.2	c.307G>A	432/1359	2	2			c.307G>A						16	SNP	c.(307-309)GGA>AGA	42	42			upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	3	Broad	aquaporin 8			25232824		0.627	ENSG00000103375	814	g.chr16:25232824G>A	cellular response to cAMP	integral to plasma membrane	water channel activity							248.044986	KEEP	56	37	-1	63	68	56	37	-1	248.678741	63	68	0.437158	1	0	0	0	0	1	0	0	0	--	--		0	A				197	GBM-27-1838-TP	p.G103R	G	CATGCTGATCGGAGGCCTCAA	NM_001169	NP_001160	25232824	O94778	AQP8_HUMAN	0		GBM - Glioblastoma multiforme(48;0.044)	3	389	+	A	A			Missense_Mutation	103			Helical; (Potential).			
AQP9	0	broad.mit.edu	GRCh37	15	58476317	58476317	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000219919.4:c.871C>T	p.Leu291Phe	p.L291F	ENST00000219919	NM_020980.3	291	Ctc/Ttc	0			1			T	L/F	uc002aez.2	protein_coding	YES	CCDS10165.1			871/888									ovary(1)	1	c.(871-873)CTC>TTC			Prints_domain:PR02021,hmmpanther:PTHR19139,hmmpanther:PTHR19139:SF15	aquaporin 9				ENSP00000219919		6-Jun	8.24E-06							6.09E-05	rs776240993,COSM3401847	6-Jun	.		ENST00000219919	Transcript			cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	ENSG00000103569	g.chr15:58476317C>T	643			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=AQP9_HUMAN&rb=263&re=295&var=L291F	NA	getma.org/?cm=var&var=hg19,15,58476317,C,T&fts=all	L291F	--	--	1																																		ALDH1A2_uc010ugw.1_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.L226F	0,1	1		benign(0.078)	p.L291F	NM_020980	NP_066190		deleterious(0.03)	0,1	AQP9_HUMAN	AQP9	HGNC	O43315	AQP9_HUMAN		GBM - Glioblastoma multiforme(80;0.16)	H0YK62_HUMAN		6	1228	+			UPI000013C796	291			Cytoplasmic (Potential).		SNV	AQP9,missense_variant,p.Leu291Phe,ENST00000219919,NM_020980.3;AQP9,missense_variant,p.Leu291Phe,ENST00000536493,;AQP9,missense_variant,p.Leu226Phe,ENST00000558772,;ALDH1A2,intron_variant,,ENST00000558231,;ALDH1A2,intron_variant,,ENST00000558239,;ALDH1A2,intron_variant,,ENST00000560863,;ALDH1A2,intron_variant,,ENST00000558073,;ALDH1A2,intron_variant,,ENST00000560122,;ALDH1A2,intron_variant,,ENST00000559297,;ALDH1A2,intron_variant,,ENST00000558504,;	uc002aez.2	c.871C>T	1241/3034	2	2			c.871C>T						15	SNP	c.(871-873)CTC>TTC	22	22			ovary(1)	1	Broad	aquaporin 9			58476317		0.438	ENSG00000103569	815	g.chr15:58476317C>T	cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity							-23.592946	KEEP	1	2	-1	63	63	1	2	-1	7.308983	63	63	0.02439	1	0	0	0	0	1	0	0	0	--	--		0	T			ALDH1A2_uc010ugw.1_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.L226F	160	GBM-19-1790-TP	p.L291F	C	GAAATATGAACTCAGTGTCAT	NM_020980	NP_066190	58476317	O43315	AQP9_HUMAN	0		GBM - Glioblastoma multiforme(80;0.16)	6	1228	+	T	T			Missense_Mutation	291			Cytoplasmic (Potential).			
AQR	9716	broad.mit.edu	GRCh37	15	35166951	35166951	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0879-01	TCGA-06-0879-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000156471.5:c.3352T>C	p.Ser1118Pro	p.S1118P	ENST00000156471	NM_014691.2	1118	Tct/Cct	0			1			G	S/P	uc001ziv.2	protein_coding	YES	CCDS42013.1			3352/4458									large_intestine(1)	1	c.(3352-3354)TCT>CCT			hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF5,Pfam_domain:PF13087,Gene3D:3.40.50.300,PIRSF_domain:PIRSF038901,Superfamily_domains:SSF52540	aquarius				ENSP00000156471		29/35									COSM1678344	29/35	.		ENST00000156471	Transcript				catalytic step 2 spliceosome	RNA binding	ENSG00000021776	g.chr15:35166951A>G	29513			MODERATE		3.535	high	getma.org/?cm=msa&ty=f&p=AQR_HUMAN&rb=1115&re=1308&var=S1118P	getma.org/pdb.php?prot=AQR_HUMAN&from=1115&to=1308&var=S1118P	getma.org/?cm=var&var=hg19,15,35166951,A,G&fts=all	S1118P	--	--	1																																			1	1		possibly_damaging(0.866)	p.S1118P	NM_014691	NP_055506		deleterious(0.02)	1	AQR_HUMAN	AQR	HGNC	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)			29	3533	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	UPI00001C1F85	1118					SNV	AQR,missense_variant,p.Ser1118Pro,ENST00000156471,NM_014691.2;AQR,3_prime_UTR_variant,,ENST00000543879,;AQR,upstream_gene_variant,,ENST00000559090,;	uc001ziv.2	c.3352T>C	3578/5945	3	3			c.3352T>C						15	SNP	c.(3352-3354)TCT>CCT	4	4			large_intestine(1)	1	Broad	aquarius			35166951		0.428	ENSG00000021776	817	g.chr15:35166951A>G		catalytic step 2 spliceosome	RNA binding							127.112525	KEEP	22	39	-1	64	84	22	39	-1	138.360192	64	84	0.240437	1	0	0	0	0	1	0	0	0	--	--		0	G				75	GBM-06-0879-TP	p.S1118P	A	GTGAAGAGAGACTGCTCCATG	NM_014691	NP_055506	35166951	O60306	AQR_HUMAN	0		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	29	3533	-	G	G		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	Missense_Mutation	1118						
AQR	0	broad.mit.edu	GRCh37	15	35168164	35168164	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-26-5134-01	TCGA-26-5134-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000156471.5:c.3209T>C	p.Ile1070Thr	p.I1070T	ENST00000156471	NM_014691.2	1070	aTa/aCa	0			1			G	I/T	uc001ziv.2	protein_coding	YES	CCDS42013.1			3209/4458									large_intestine(1)	1	c.(3208-3210)ATA>ACA			hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF5,Pfam_domain:PF13086,Gene3D:3.40.50.300,PIRSF_domain:PIRSF038901,Superfamily_domains:SSF52540	aquarius				ENSP00000156471		28/35									COSM433746	28/35	.		ENST00000156471	Transcript				catalytic step 2 spliceosome	RNA binding	ENSG00000021776	g.chr15:35168164A>G	29513			MODERATE		2.48	medium	getma.org/?cm=msa&ty=f&p=AQR_HUMAN&rb=801&re=1107&var=I1070T	getma.org/pdb.php?prot=AQR_HUMAN&from=801&to=1107&var=I1070T	getma.org/?cm=var&var=hg19,15,35168164,A,G&fts=all	I1070T	--	--	1																																			1	1		probably_damaging(0.991)	p.I1070T	NM_014691	NP_055506		deleterious(0)	1	AQR_HUMAN	AQR	HGNC	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)			28	3390	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	UPI00001C1F85	1070					SNV	AQR,missense_variant,p.Ile1070Thr,ENST00000156471,NM_014691.2;AQR,3_prime_UTR_variant,,ENST00000543879,;	uc001ziv.2	c.3209T>C	3435/5945	4	4			c.3209T>C						15	SNP	c.(3208-3210)ATA>ACA	22	22			large_intestine(1)	1	Broad	aquarius			35168164		0.358	ENSG00000021776	817	g.chr15:35168164A>G		catalytic step 2 spliceosome	RNA binding							-43.793846	KEEP	2	3	-1	103	119	2	3	-1	11.158515	103	119	0.023041	1	0	0	0	0	1	0	0	0	--	--		0	G				183	GBM-26-5134-TP	p.I1070T	A	AAAAGTTTCTATCTCCAGAAT	NM_014691	NP_055506	35168164	O60306	AQR_HUMAN	0		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	28	3390	-	G	G		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	Missense_Mutation	1070						
AQR	0	broad.mit.edu	GRCh37	15	35168175	35168175	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-26-5134-01	TCGA-26-5134-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000156471.5:c.3198G>A	p.Gln1066=	p.Q1066=	ENST00000156471	NM_014691.2	1066	caG/caA	0			1			T	Q	uc001ziv.2	protein_coding	YES	CCDS42013.1			3198/4458									large_intestine(1)	1	c.(3196-3198)CAG>CAA			hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF5,Pfam_domain:PF13086,Gene3D:3.40.50.300,PIRSF_domain:PIRSF038901,Superfamily_domains:SSF52540	aquarius				ENSP00000156471		28/35									COSM3401688	28/35	.		ENST00000156471	Transcript				catalytic step 2 spliceosome	RNA binding	ENSG00000021776	g.chr15:35168175C>T	29513			LOW								--	--	1																																			1	1			p.Q1066Q	NM_014691	NP_055506			1	AQR_HUMAN	AQR	HGNC	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)			28	3379	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	UPI00001C1F85	1066					SNV	AQR,synonymous_variant,p.=,ENST00000156471,NM_014691.2;AQR,3_prime_UTR_variant,,ENST00000543879,;	uc001ziv.2	c.3198G>A	3424/5945	2	2			c.3198G>A						15	SNP	c.(3196-3198)CAG>CAA	24	24			large_intestine(1)	1	Broad	aquarius			35168175		0.353	ENSG00000021776	817	g.chr15:35168175C>T		catalytic step 2 spliceosome	RNA binding							-42.202126	KEEP	1	4	-1	102	111	1	4	-1	7.854415	102	111	0.025	1	0	0	0	0	0	0	1	0	--	--		0	T				183	GBM-26-5134-TP	p.Q1066Q	C	TCTCCAGAATCTGAGCAGCCT	NM_014691	NP_055506	35168175	O60306	AQR_HUMAN	0		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	28	3379	-	T	T		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	Silent	1066						
AQR	9716		GRCh37	15	35193048	35193048	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000156471.5:c.2018T>C	p.Ile673Thr	p.I673T	ENST00000156471	NM_014691.2	673	aTt/aCt	0																																																																																																																																																																																																																																												
ARAP2	0	broad.mit.edu	GRCh37	4	36168644	36168644	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-28-2513-01	TCGA-28-2513-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303965.4:c.1883C>G	p.Thr628Ser	p.T628S	ENST00000303965	NM_015230.3	628	aCc/aGc	0			1			C	T/S	uc003gsq.1	protein_coding	YES	CCDS3441.1			1883/5115									ovary(1)|pancreas(1)|skin(1)	3	c.(1882-1884)ACC>AGC			PROSITE_profiles:PS50003,hmmpanther:PTHR23180:SF228,hmmpanther:PTHR23180,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	ArfGAP with RhoGAP domain, ankyrin repeat and PH				ENSP00000302895		Oct-33									COSM3409263	Oct-33	.		ENST00000303965	Transcript			regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	ENSG00000047365	g.chr4:36168644G>C	16924			MODERATE		1.4	low	getma.org/?cm=msa&ty=f&p=ARAP2_HUMAN&rb=587&re=679&var=T628S	NA	getma.org/?cm=var&var=hg19,4,36168644,G,C&fts=all	T628S	--	--	1																																		ARAP2_uc003gsr.1_Missense_Mutation_p.T628S	1	1		possibly_damaging(0.868)	p.T628S	NM_015230	NP_056045		tolerated(0.09)	1	ARAP2_HUMAN	ARAP2	HGNC	Q8WZ64	ARAP2_HUMAN			D6RAD6_HUMAN		10	2221	-			UPI000013E917	628			PH 2.		SNV	ARAP2,missense_variant,p.Thr628Ser,ENST00000303965,NM_015230.3;ARAP2,non_coding_transcript_exon_variant,,ENST00000508066,;	uc003gsq.1	c.1883C>G	2373/7514	3	3			c.1883C>G						4	SNP	c.(1882-1884)ACC>AGC	54	54			ovary(1)|pancreas(1)|skin(1)	3	Broad	ArfGAP with RhoGAP domain, ankyrin repeat and PH			36168644		0.294	ENSG00000047365	821	g.chr4:36168644G>C	regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding							53.096771	KEEP	9	17	-1	51	63	9	17	-1	65.2719	51	63	0.173554	1	0	0	0	0	1	0	0	0	--	--		0	C			ARAP2_uc003gsr.1_Missense_Mutation_p.T628S	213	GBM-28-2513-TP	p.T628S	G	AGGAATTATGGTAATACCAAG	NM_015230	NP_056045	36168644	Q8WZ64	ARAP2_HUMAN	0			10	2221	-	C	C			Missense_Mutation	628			PH 2.			
ARAP2	0	broad.mit.edu	GRCh37	4	36231022	36231022	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-4210-01	TCGA-32-4210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303965.4:c.87G>C	p.Glu29Asp	p.E29D	ENST00000303965	NM_015230.3	29	gaG/gaC	0			1			G	E/D	uc003gsq.1	protein_coding	YES	CCDS3441.1			87/5115									ovary(1)|pancreas(1)|skin(1)	3	c.(85-87)GAG>GAC			PROSITE_profiles:PS50105,Pfam_domain:PF00536,Gene3D:1.10.150.50,SMART_domains:SM00454,Superfamily_domains:SSF47769	ArfGAP with RhoGAP domain, ankyrin repeat and PH				ENSP00000302895		Feb-33									COSM3409264	Feb-33	.		ENST00000303965	Transcript			regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	ENSG00000047365	g.chr4:36231022C>G	16924			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=ARAP2_HUMAN&rb=8&re=67&var=E29D	getma.org/pdb.php?prot=ARAP2_HUMAN&from=8&to=67&var=E29D	getma.org/?cm=var&var=hg19,4,36231022,C,G&fts=all	E29D	--	--	1																																		ARAP2_uc003gsr.1_Missense_Mutation_p.E29D	1	1		benign(0.021)	p.E29D	NM_015230	NP_056045		tolerated(0.24)	1	ARAP2_HUMAN	ARAP2	HGNC	Q8WZ64	ARAP2_HUMAN			D6RAD6_HUMAN		2	425	-			UPI000013E917	29			SAM.		SNV	ARAP2,missense_variant,p.Glu29Asp,ENST00000303965,NM_015230.3;ARAP2,missense_variant,p.Glu29Asp,ENST00000506189,;ARAP2,non_coding_transcript_exon_variant,,ENST00000508066,;	uc003gsq.1	c.87G>C	577/7514	3	3			c.87G>C						4	SNP	c.(85-87)GAG>GAC	49	49			ovary(1)|pancreas(1)|skin(1)	3	Broad	ArfGAP with RhoGAP domain, ankyrin repeat and PH			36231022		0.393	ENSG00000047365	821	g.chr4:36231022C>G	regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding							179.972281	KEEP	24	35	-1	105	105	24	35	-1	197.297746	105	105	0.22619	1	0	0	0	0	1	0	0	0	--	--		0	G			ARAP2_uc003gsr.1_Missense_Mutation_p.E29D	245	GBM-32-4210-TP	p.E29D	C	TAAAACCAGACTCATGGAAAT	NM_015230	NP_056045	36231022	Q8WZ64	ARAP2_HUMAN	0			2	425	-	G	G			Missense_Mutation	29			SAM.			
ARAP2	116984		GRCh37	4	36085016	36085016	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000303965.4:c.4482G>A	p.Val1494=	p.V1494=	ENST00000303965	NM_015230.3	1494	gtG/gtA	0																																																																																																																																																																																																																																												
ARAP3	64411	broad.mit.edu	GRCh37	5	141041288	141041288	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000239440.4:c.3082C>T	p.Arg1028Cys	p.R1028C	ENST00000239440	NM_022481.5	1028	Cgc/Tgc	0			1			A	R/C	uc003llm.2	protein_coding	YES	CCDS4266.1			3082/4635									breast(5)|ovary(1)|large_intestine(1)	7	c.(3082-3084)CGC>TGC			PROSITE_profiles:PS50238,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF9,Pfam_domain:PF00620,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350	ArfGAP with RhoGAP domain, ankyrin repeat and PH				ENSP00000239440		21/33	1.65E-05	9.61E-05		0.000116					rs754482035,COSM3409955	21/33	.		ENST00000239440	Transcript			cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	ENSG00000120318	g.chr5:141041288G>A	24097			MODERATE		2.49	medium	getma.org/?cm=msa&ty=f&p=ARAP3_HUMAN&rb=920&re=1073&var=R1028C	getma.org/pdb.php?prot=ARAP3_HUMAN&from=920&to=1073&var=R1028C	getma.org/?cm=var&var=hg19,5,141041288,G,A&fts=all	R1028C	--	--	1																																		ARAP3_uc003lll.2_5'UTR|ARAP3_uc011dbe.1_Missense_Mutation_p.R690C|ARAP3_uc003lln.2_Missense_Mutation_p.R859C	0,1	1		probably_damaging(0.967)	p.R1028C	NM_022481	NP_071926		deleterious(0)	0,1	ARAP3_HUMAN	ARAP3	HGNC	Q8WWN8	ARAP3_HUMAN			Q9H7C1_HUMAN,Q05CH1_HUMAN,B3KMD0_HUMAN		21	3160	-			UPI0000049886	1028			Rho-GAP.		SNV	ARAP3,missense_variant,p.Arg1028Cys,ENST00000239440,NM_022481.5;ARAP3,missense_variant,p.Arg859Cys,ENST00000508305,;ARAP3,missense_variant,p.Arg690Cys,ENST00000513878,;ARAP3,non_coding_transcript_exon_variant,,ENST00000512390,;	uc003llm.2	c.3082C>T	3148/5250	2	2			c.3082C>T						5	SNP	c.(3082-3084)CGC>TGC	46	46			breast(5)|ovary(1)|large_intestine(1)	7	Broad	ArfGAP with RhoGAP domain, ankyrin repeat and PH			141041288		0.552	ENSG00000120318	822	g.chr5:141041288G>A	cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding							132.778741	KEEP	25	40	-1	105	88	25	40	-1	138.328844	105	88	0.301887	1	0	0	0	0	1	0	0	0	--	--		0	A			ARAP3_uc003lll.2_5'UTR|ARAP3_uc011dbe.1_Missense_Mutation_p.R690C|ARAP3_uc003lln.2_Missense_Mutation_p.R859C	46	GBM-06-0209-TP	p.R1028C	G	AGTGTGCGGCGGTTGACCCGC	NM_022481	NP_071926	141041288	Q8WWN8	ARAP3_HUMAN	0			21	3160	-	A	A			Missense_Mutation	1028			Rho-GAP.			
ARAP3	0	broad.mit.edu	GRCh37	5	141041300	141041300	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2615-01	TCGA-32-2615-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000239440.4:c.3070C>T	p.Pro1024Ser	p.P1024S	ENST00000239440	NM_022481.5	1024	Ccg/Tcg	0			1			A	P/S	uc003llm.2	protein_coding	YES	CCDS4266.1			3070/4635									breast(5)|ovary(1)|large_intestine(1)	7	c.(3070-3072)CCG>TCG			PROSITE_profiles:PS50238,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF9,Pfam_domain:PF00620,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350	ArfGAP with RhoGAP domain, ankyrin repeat and PH				ENSP00000239440		21/33									COSM3409956	21/33	.		ENST00000239440	Transcript			cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	ENSG00000120318	g.chr5:141041300G>A	24097			MODERATE		3.335	medium	getma.org/?cm=msa&ty=f&p=ARAP3_HUMAN&rb=920&re=1073&var=P1024S	getma.org/pdb.php?prot=ARAP3_HUMAN&from=920&to=1073&var=P1024S	getma.org/?cm=var&var=hg19,5,141041300,G,A&fts=all	P1024S	--	--	1																																		ARAP3_uc003lll.2_5'UTR|ARAP3_uc011dbe.1_Missense_Mutation_p.P686S|ARAP3_uc003lln.2_Missense_Mutation_p.P855S	1	1		probably_damaging(1)	p.P1024S	NM_022481	NP_071926		deleterious(0.01)	1	ARAP3_HUMAN	ARAP3	HGNC	Q8WWN8	ARAP3_HUMAN			Q9H7C1_HUMAN,Q05CH1_HUMAN,B3KMD0_HUMAN		21	3148	-			UPI0000049886	1024			Rho-GAP.		SNV	ARAP3,missense_variant,p.Pro1024Ser,ENST00000239440,NM_022481.5;ARAP3,missense_variant,p.Pro855Ser,ENST00000508305,;ARAP3,missense_variant,p.Pro686Ser,ENST00000513878,;ARAP3,non_coding_transcript_exon_variant,,ENST00000512390,;	uc003llm.2	c.3070C>T	3136/5250	1	1			c.3070C>T						5	SNP	c.(3070-3072)CCG>TCG	58	58			breast(5)|ovary(1)|large_intestine(1)	7	Broad	ArfGAP with RhoGAP domain, ankyrin repeat and PH			141041300		0.572	ENSG00000120318	822	g.chr5:141041300G>A	cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding							-15.376186	KEEP	3	3	-1	97	96	3	3	-1	6.303144	97	96	0.041667	1	0	0	0	0	1	0	0	0	--	--		0	A			ARAP3_uc003lll.2_5'UTR|ARAP3_uc011dbe.1_Missense_Mutation_p.P686S|ARAP3_uc003lln.2_Missense_Mutation_p.P855S	239	GBM-32-2615-TP	p.P1024S	G	TTGACCCGCGGCAGGCAGCCA	NM_022481	NP_071926	141041300	Q8WWN8	ARAP3_HUMAN	0			21	3148	-	A	A			Missense_Mutation	1024			Rho-GAP.			
ARAP3	64411		GRCh37	5	141035273	141035273	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000239440.4:c.4025C>T	p.Ala1342Val	p.A1342V	ENST00000239440	NM_022481.5	1342	gCc/gTc	0																																																																																																																																																																																																																																												
ARAP3	64411		GRCh37	5	141049346	141049346	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000239440.4:c.2282G>A	p.Gly761Glu	p.G761E	ENST00000239440	NM_022481.5	761	gGg/gAg	0																																																																																																																																																																																																																																												
AREL1	0	broad.mit.edu	GRCh37	14	75149998	75149998	+	splice_donor_variant	Splice_Site	SNP	C	C	T			TCGA-19-2625-01	TCGA-19-2625-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356357.4:c.481+1G>A		p.X161_splice	ENST00000356357	NM_001039479.1			0			1			T		uc001xqb.2	protein_coding	YES	CCDS41971.1			481/2472									ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	c.e5+1				hypothetical protein LOC9870				ENSP00000348714											COSM3401469		.		ENST00000356357	Transcript			protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity	ENSG00000119682	g.chr14:75149998C>T	20363			HIGH	19-May							--	--	1																																		KIAA0317_uc010tut.1_Splice_Site|KIAA0317_uc001xqc.2_Splice_Site_p.G161_splice	1	1			p.G161_splice	NM_001039479	NP_001034568			1	AREL1_HUMAN	AREL1	HGNC	O15033	K0317_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00404)	H0YJ67_HUMAN,G3V506_HUMAN,G3V245_HUMAN		5	986	-			UPI0000073D44						SNV	AREL1,splice_donor_variant,,ENST00000356357,NM_001039479.1;AREL1,splice_donor_variant,,ENST00000556202,;AREL1,downstream_gene_variant,,ENST00000555249,;AREL1,splice_donor_variant,,ENST00000557401,;AREL1,downstream_gene_variant,,ENST00000556589,;AREL1,splice_donor_variant,,ENST00000555330,;AREL1,splice_donor_variant,,ENST00000469797,;AREL1,splice_donor_variant,,ENST00000553411,;AREL1,intron_variant,,ENST00000553279,;	uc001xqb.2	c.481_splice	-/5456	5	1			c.481_splice						14	SNP	c.e5+1	8	8			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	Broad	hypothetical protein LOC9870			75149998		0.239	ENSG00000119682	8028	g.chr14:75149998C>T	protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity							72.565857	KEEP	17	10	-1	13	18	17	10	-1	72.665164	13	18	0.454545	1	0	0	0	0	0	0	0	1	--	--		0	T			KIAA0317_uc010tut.1_Splice_Site|KIAA0317_uc001xqc.2_Splice_Site_p.G161_splice	165	GBM-19-2625-TP	p.G161_splice	C	aaagaaCCTACCAGGTTGAAA	NM_001039479	NP_001034568	75149998	O15033	K0317_HUMAN	0		BRCA - Breast invasive adenocarcinoma(234;0.00404)	5	986	-	T	T			Splice_Site							
ARFGAP1	0	broad.mit.edu	GRCh37	20	61907550	61907550	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A			TCGA-19-2620-01	TCGA-19-2620-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370283.4:c.168C>A	p.Leu56=	p.L56=	ENST00000370283	NM_018209.3	56	ctC/ctA	0			1			A	L	uc002yem.2	protein_coding		CCDS13515.1			168/1221									pancreas(1)	1	c.(166-168)CTC>CTA			PROSITE_profiles:PS50115,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF35,Pfam_domain:PF01412,SMART_domains:SM00105,Superfamily_domains:SSF57863	ADP-ribosylation factor GTPase activating				ENSP00000359306		13-Mar									COSM3405271,COSM3405272	13-Mar	.		ENST00000370283	Transcript			COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding	ENSG00000101199	g.chr20:61907550C>A	15852			LOW								--	--	1																																		ARFGAP1_uc011aas.1_Intron|ARFGAP1_uc011aat.1_5'UTR|ARFGAP1_uc002yel.2_Silent_p.L56L|ARFGAP1_uc002yen.2_Silent_p.L56L	1,1				p.L56L	NM_018209	NP_060679			1,1	ARFG1_HUMAN	ARFGAP1	HGNC	Q8N6T3	ARFG1_HUMAN			F8W1U7_HUMAN,F8VWB3_HUMAN,E5RIU2_HUMAN,E5RHC5_HUMAN		3	280	+	all_cancers(38;1.59e-09)		UPI0000125DED	56			Arf-GAP.		SNV	ARFGAP1,splice_region_variant,p.=,ENST00000370275,NM_001281482.1;ARFGAP1,splice_region_variant,p.=,ENST00000370283,NM_018209.3;ARFGAP1,splice_region_variant,p.=,ENST00000353546,NM_175609.2;ARFGAP1,splice_region_variant,,ENST00000519273,NM_001281484.1;ARFGAP1,splice_region_variant,p.=,ENST00000522403,;ARFGAP1,splice_region_variant,p.=,ENST00000523114,;ARFGAP1,splice_region_variant,p.=,ENST00000550188,;ARFGAP1,intron_variant,,ENST00000547204,NM_001281483.1;ARFGAP1,intron_variant,,ENST00000519604,;ARFGAP1,intron_variant,,ENST00000549047,;ARFGAP1,intron_variant,,ENST00000518601,;ARFGAP1,intron_variant,,ENST00000523460,;NKAIN4,upstream_gene_variant,,ENST00000370307,;ARFGAP1,splice_region_variant,p.=,ENST00000520485,;ARFGAP1,splice_region_variant,,ENST00000519531,;ARFGAP1,splice_region_variant,,ENST00000524192,;ARFGAP1,splice_region_variant,,ENST00000522959,;	uc002yem.2	c.168C>A	308/3278	1	1			c.168C>A						20	SNP	c.(166-168)CTC>CTA	64	64			pancreas(1)	1	Broad	ADP-ribosylation factor GTPase activating			61907550		0.642	ENSG00000101199	831	g.chr20:61907550C>A	COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding							59.038396	KEEP	15	10	0.4	25	10	15	10	0.4	59.371943	25	10	0.415094	1	0	0	0	0	0	0	1	0	--	--		0	A			ARFGAP1_uc011aas.1_Intron|ARFGAP1_uc011aat.1_5'UTR|ARFGAP1_uc002yel.2_Silent_p.L56L|ARFGAP1_uc002yen.2_Silent_p.L56L	162	GBM-19-2620-TP	p.L56L	C	GGGTTCACCTCAGGTCAGTGT	NM_018209	NP_060679	61907550	Q8N6T3	ARFG1_HUMAN	0			3	280	+	A	A	all_cancers(38;1.59e-09)		Silent	56			Arf-GAP.			
ARFGAP1	55738		GRCh37	20	61910293	61910293	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000353546.3:c.573G>A	p.Pro191=	p.P191=	ENST00000353546	NM_175609.2	191	ccG/ccA	0																																																																																																																																																																																																																																												
ARFGAP2	84364	broad.mit.edu	GRCh37	11	47196824	47196824	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0210-01	TCGA-06-0210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000524782.1:c.305C>G	p.Ala102Gly	p.A102G	ENST00000524782	NM_032389.4	102	gCc/gGc	0			1			C	A/G	uc001ndt.2	protein_coding	YES	CCDS7926.1			305/1566									ovary(1)	1	c.(304-306)GCC>GGC			Pfam_domain:PF01412,PROSITE_profiles:PS50115,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF194,SMART_domains:SM00105,Superfamily_domains:SSF57863	ADP-ribosylation factor GTPase activating				ENSP00000434442		16-Apr									COSM3397716	16-Apr	.		ENST00000524782	Transcript			protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding	ENSG00000149182	g.chr11:47196824G>C	13504			MODERATE		2.535	medium	getma.org/?cm=msa&ty=f&p=ARFG2_HUMAN&rb=11&re=122&var=A102G	getma.org/pdb.php?prot=ARFG2_HUMAN&from=11&to=122&var=A102G	getma.org/?cm=var&var=hg19,11,47196824,G,C&fts=all	A102G	--	--	1																																		ARFGAP2_uc010rha.1_5'Flank|ARFGAP2_uc010rhb.1_Missense_Mutation_p.A102G|ARFGAP2_uc001ndu.2_Intron|ARFGAP2_uc010rhc.1_Intron|ARFGAP2_uc010rhd.1_Missense_Mutation_p.A102G|ARFGAP2_uc001ndv.1_3'UTR	1	1		benign(0.361)	p.A102G	NM_032389	NP_115765		deleterious(0.01)	1	ARFG2_HUMAN	ARFGAP2	HGNC	Q8N6H7	ARFG2_HUMAN			B7Z9M7_HUMAN		4	320	-			UPI000006F4C6	102			Required for interaction with coatomer.|Arf-GAP.		SNV	ARFGAP2,missense_variant,p.Ala102Gly,ENST00000524782,NM_032389.4,NM_001242832.1;ARFGAP2,missense_variant,p.Ala23Gly,ENST00000419701,;ARFGAP2,missense_variant,p.Ala102Gly,ENST00000525398,;ARFGAP2,missense_variant,p.Ala102Gly,ENST00000525314,;ARFGAP2,missense_variant,p.Ala102Gly,ENST00000528444,;ARFGAP2,missense_variant,p.Ala95Gly,ENST00000530596,;ARFGAP2,intron_variant,,ENST00000426335,;ARFGAP2,intron_variant,,ENST00000319543,;ARFGAP2,intron_variant,,ENST00000527927,;ARFGAP2,intron_variant,,ENST00000526342,;PACSIN3,downstream_gene_variant,,ENST00000539589,NM_001184975.1;PACSIN3,downstream_gene_variant,,ENST00000298838,NM_016223.4,NM_001184974.1;PACSIN3,downstream_gene_variant,,ENST00000528462,;PACSIN3,downstream_gene_variant,,ENST00000530513,;PACSIN3,downstream_gene_variant,,ENST00000528201,;ARFGAP2,upstream_gene_variant,,ENST00000527776,;PACSIN3,downstream_gene_variant,,ENST00000533686,;ARFGAP2,non_coding_transcript_exon_variant,,ENST00000395449,;ARFGAP2,non_coding_transcript_exon_variant,,ENST00000531750,;ARFGAP2,non_coding_transcript_exon_variant,,ENST00000533939,;ARFGAP2,non_coding_transcript_exon_variant,,ENST00000529599,;ARFGAP2,missense_variant,p.Ala60Gly,ENST00000532478,;ARFGAP2,missense_variant,p.Ala102Gly,ENST00000529455,;ARFGAP2,missense_variant,p.Pro78Ala,ENST00000528041,;ARFGAP2,3_prime_UTR_variant,,ENST00000529439,;ARFGAP2,3_prime_UTR_variant,,ENST00000528708,;ARFGAP2,3_prime_UTR_variant,,ENST00000524586,;ARFGAP2,non_coding_transcript_exon_variant,,ENST00000526185,;ARFGAP2,non_coding_transcript_exon_variant,,ENST00000524727,;ARFGAP2,non_coding_transcript_exon_variant,,ENST00000527097,;ARFGAP2,non_coding_transcript_exon_variant,,ENST00000530794,;ARFGAP2,intron_variant,,ENST00000533243,;ARFGAP2,intron_variant,,ENST00000532438,;PACSIN3,downstream_gene_variant,,ENST00000532457,;ARFGAP2,upstream_gene_variant,,ENST00000526948,;ARFGAP2,downstream_gene_variant,,ENST00000528072,;	uc001ndt.2	c.305C>G	534/2976	3	3			c.305C>G						11	SNP	c.(304-306)GCC>GGC	64	64			ovary(1)	1	Broad	ADP-ribosylation factor GTPase activating			47196824		0.542	ENSG00000149182	832	g.chr11:47196824G>C	protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding							149.680529	KEEP	41	28	-1	139	159	41	28	-1	175.589055	139	159	0.199346	1	0	0	0	0	1	0	0	0	--	--		0	C			ARFGAP2_uc010rha.1_5'Flank|ARFGAP2_uc010rhb.1_Missense_Mutation_p.A102G|ARFGAP2_uc001ndu.2_Intron|ARFGAP2_uc010rhc.1_Intron|ARFGAP2_uc010rhd.1_Missense_Mutation_p.A102G|ARFGAP2_uc001ndv.1_3'UTR	47	GBM-06-0210-TP	p.A102G	G	TTTGGTGTTGGCATCATTGGC	NM_032389	NP_115765	47196824	Q8N6H7	ARFG2_HUMAN	0			4	320	-	C	C			Missense_Mutation	102			Required for interaction with coatomer.|Arf-GAP.			
ARFGEF1	10565	broad.mit.edu	GRCh37	8	68140324	68140327	+	frameshift_variant	Frame_Shift_Del	DEL	TAAT	TAAT	-			TCGA-06-0747-01	TCGA-06-0747-01	TAAT	TAAT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262215.3:c.3462_3465del	p.Glu1154AspfsTer15	p.E1154Dfs*15	ENST00000262215	NM_006421.4	1154	gaATTA/ga	0			1			-	EL/X	uc003xxo.1	protein_coding	YES	CCDS6199.1			3462-3465/5550									ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	c.(3460-3465)GAATTAfs			hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF137,Superfamily_domains:SSF48371	brefeldin A-inhibited guanine				ENSP00000262215		25/39										25/39	.		ENST00000262215	Transcript			exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	ENSG00000066777	g.chr8:68140324_68140327delTAAT	15772			HIGH								--	--	1																																		ARFGEF1_uc003xxl.1_Frame_Shift_Del_p.E608fs|ARFGEF1_uc003xxn.1_Frame_Shift_Del_p.E137fs		1			p.E1154fs	NM_006421	NP_006412				BIG1_HUMAN	ARFGEF1	HGNC	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		E5RJN9_HUMAN,E5RJB2_HUMAN,E5RHZ1_HUMAN,B3KMS9_HUMAN		25	3852_3855	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	UPI000013D275	1154_1155					deletion	ARFGEF1,frameshift_variant,p.Glu1154AspfsTer15,ENST00000262215,NM_006421.4;ARFGEF1,frameshift_variant,p.Glu608AspfsTer15,ENST00000520381,;ARFGEF1,frameshift_variant,p.Glu3AspfsTer15,ENST00000517631,;ARFGEF1,5_prime_UTR_variant,,ENST00000518230,;	uc003xxo.1	c.3462_3465delATTA	3852-3855/7225	5	5			c.3462_3465delATTA						8	DEL	c.(3460-3465)GAATTAfs	45	45			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Broad	brefeldin A-inhibited guanine			68140327		0.343	ENSG00000066777	834	g.chr8:68140324_68140327delTAAT	exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			932			932														0.34	1	1	0	1	0	0	0	0	0	--	--		0	-			ARFGEF1_uc003xxl.1_Frame_Shift_Del_p.E608fs|ARFGEF1_uc003xxn.1_Frame_Shift_Del_p.E137fs	68	GBM-06-0747-TP	p.E1154fs	TAAT	TCGTGGAAAGTAATTCATCCATAG	NM_006421	NP_006412	68140324	Q9Y6D6	BIG1_HUMAN	0	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		25	3852_3855	-	-	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Frame_Shift_Del	1154_1155						
ARFGEF1	0	broad.mit.edu	GRCh37	8	68140317	68140317	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-27-2523-01	TCGA-27-2523-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262215.3:c.3472A>G	p.Thr1158Ala	p.T1158A	ENST00000262215	NM_006421.4	1158	Acg/Gcg	0			1			C	T/A	uc003xxo.1	protein_coding	YES	CCDS6199.1			3472/5550									ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	c.(3472-3474)ACG>GCG			hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF137	brefeldin A-inhibited guanine				ENSP00000262215		25/39									COSM3413090	25/39	.		ENST00000262215	Transcript			exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	ENSG00000066777	g.chr8:68140317T>C	15772			MODERATE		-0.75	neutral	getma.org/?cm=msa&ty=f&p=BIG1_HUMAN&rb=1083&re=1218&var=T1158A	NA	getma.org/?cm=var&var=hg19,8,68140317,T,C&fts=all	T1158A	--	--	1																																		ARFGEF1_uc003xxl.1_Missense_Mutation_p.T612A|ARFGEF1_uc003xxn.1_Missense_Mutation_p.T141A	1	1		benign(0.001)	p.T1158A	NM_006421	NP_006412		tolerated(0.44)	1	BIG1_HUMAN	ARFGEF1	HGNC	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		E5RJN9_HUMAN,E5RJB2_HUMAN,E5RHZ1_HUMAN,B3KMS9_HUMAN		25	3862	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	UPI000013D275	1158					SNV	ARFGEF1,missense_variant,p.Thr1158Ala,ENST00000262215,NM_006421.4;ARFGEF1,missense_variant,p.Thr612Ala,ENST00000520381,;ARFGEF1,missense_variant,p.Thr7Ala,ENST00000517631,;ARFGEF1,5_prime_UTR_variant,,ENST00000518230,;	uc003xxo.1	c.3472A>G	3862/7225	3	3			c.3472A>G						8	SNP	c.(3472-3474)ACG>GCG	3	3			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Broad	brefeldin A-inhibited guanine			68140317		0.318	ENSG00000066777	834	g.chr8:68140317T>C	exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			932			932	199.062864	KEEP	38	27	-1	43	38	38	27	-1	199.334818	43	38	0.451852	1	0	0	0	0	1	0	0	0	--	--		0	C			ARFGEF1_uc003xxl.1_Missense_Mutation_p.T612A|ARFGEF1_uc003xxn.1_Missense_Mutation_p.T141A	201	GBM-27-2523-TP	p.T1158A	T	GGGTGTGTCGTGGAAAGTAAT	NM_006421	NP_006412	68140317	Q9Y6D6	BIG1_HUMAN	0	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		25	3862	-	C	C	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Missense_Mutation	1158						
ARFGEF2	10564	broad.mit.edu	GRCh37	20	47605879	47605879	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0876-01	TCGA-06-0876-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371917.4:c.2591C>A	p.Ala864Asp	p.A864D	ENST00000371917	NM_006420.2	864	gCt/gAt	0			1			A	A/D	uc002xtx.3	protein_coding	YES	CCDS13411.1			2591/5358									breast(3)|upper_aerodigestive_tract(1)	4	c.(2590-2592)GCT>GAT			hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF124	ADP-ribosylation factor guanine				ENSP00000360985		19/39									COSM3405176	19/39	.		ENST00000371917	Transcript	1		exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	ENSG00000124198	g.chr20:47605879C>A	15853			MODERATE		2.625	medium	getma.org/?cm=msa&ty=f&p=BIG2_HUMAN&rb=828&re=1027&var=A864D	NA	getma.org/?cm=var&var=hg19,20,47605879,C,A&fts=all	A864D	--	--	1																																		ARFGEF2_uc010zyf.1_Missense_Mutation_p.A157D	1	1		possibly_damaging(0.558)	p.A864D	NM_006420	NP_006411		deleterious(0)	1	BIG2_HUMAN	ARFGEF2	HGNC	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		Q59FR3_HUMAN		19	2743	+			UPI000013D378	864					SNV	ARFGEF2,missense_variant,p.Ala864Asp,ENST00000371917,NM_006420.2;	uc002xtx.3	c.2591C>A	2591/8852	2	2			c.2591C>A						20	SNP	c.(2590-2592)GCT>GAT	35	35			breast(3)|upper_aerodigestive_tract(1)	4	Broad	ADP-ribosylation factor guanine			47605879		0.468	ENSG00000124198	835	g.chr20:47605879C>A	exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	Esophageal Squamous(176;1738 1974 26285 33069 35354)			Esophageal Squamous(176;1738 1974 26285 33069 35354)			-5.255805	KEEP	2	2	0.5	36	31	2	2	0.5	7.517644	36	31	0.0625	1	0	0	0	0	1	0	0	0	--	--		0	A			ARFGEF2_uc010zyf.1_Missense_Mutation_p.A157D	72	GBM-06-0876-TP	p.A864D	C	GAGCAAATGGCTAAAACAGCC	NM_006420	NP_006411	47605879	Q9Y6D5	BIG2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		19	2743	+	A	A			Missense_Mutation	864						
ARFGEF2	0	broad.mit.edu	GRCh37	20	47585807	47585807	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371917.4:c.1183G>A	p.Asp395Asn	p.D395N	ENST00000371917	NM_006420.2	395	Gac/Aac	0			1			A	D/N	uc002xtx.3	protein_coding	YES	CCDS13411.1			1183/5358									breast(3)|upper_aerodigestive_tract(1)	4	c.(1183-1185)GAC>AAC			hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF124,Pfam_domain:PF12783	ADP-ribosylation factor guanine				ENSP00000360985		Sep-39									COSM3405174	Sep-39	.		ENST00000371917	Transcript	1		exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	ENSG00000124198	g.chr20:47585807G>A	15853			MODERATE		2.945	medium	getma.org/?cm=msa&ty=f&p=BIG2_HUMAN&rb=367&re=530&var=D395N	NA	getma.org/?cm=var&var=hg19,20,47585807,G,A&fts=all	D395N	--	--	1																																			1	1		benign(0.16)	p.D395N	NM_006420	NP_006411		deleterious(0.04)	1	BIG2_HUMAN	ARFGEF2	HGNC	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		Q59FR3_HUMAN		9	1335	+			UPI000013D378	395					SNV	ARFGEF2,missense_variant,p.Asp395Asn,ENST00000371917,NM_006420.2;	uc002xtx.3	c.1183G>A	1183/8852	2	2			c.1183G>A						20	SNP	c.(1183-1185)GAC>AAC	47	47			breast(3)|upper_aerodigestive_tract(1)	4	Broad	ADP-ribosylation factor guanine			47585807		0.527	ENSG00000124198	835	g.chr20:47585807G>A	exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	Esophageal Squamous(176;1738 1974 26285 33069 35354)			Esophageal Squamous(176;1738 1974 26285 33069 35354)			140.329954	KEEP	30	30	-1	76	85	30	30	-1	150.199368	76	85	0.262887	1	0	0	0	0	1	0	0	0	--	--		0	A				249	GBM-32-5222-TP	p.D395N	G	AGGCCCTCCAGACCCAAAGTA	NM_006420	NP_006411	47585807	Q9Y6D5	BIG2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		9	1335	+	A	A			Missense_Mutation	395						
ARFGEF2	0	broad.mit.edu	GRCh37	20	47591341	47591341	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371917.4:c.1704G>A	p.Val568=	p.V568=	ENST00000371917	NM_006420.2	568	gtG/gtA	0			1			A	V	uc002xtx.3	protein_coding	YES	CCDS13411.1			1704/5358									breast(3)|upper_aerodigestive_tract(1)	4	c.(1702-1704)GTG>GTA			hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF124,Superfamily_domains:SSF48371	ADP-ribosylation factor guanine				ENSP00000360985		13/39									COSM3405175	13/39	.		ENST00000371917	Transcript	1		exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	ENSG00000124198	g.chr20:47591341G>A	15853			LOW								--	--	1																																			1	1			p.V568V	NM_006420	NP_006411			1	BIG2_HUMAN	ARFGEF2	HGNC	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		Q59FR3_HUMAN		13	1856	+			UPI000013D378	568					SNV	ARFGEF2,synonymous_variant,p.=,ENST00000371917,NM_006420.2;	uc002xtx.3	c.1704G>A	1704/8852	1	1			c.1704G>A						20	SNP	c.(1702-1704)GTG>GTA	57	57			breast(3)|upper_aerodigestive_tract(1)	4	Broad	ADP-ribosylation factor guanine			47591341		0.517	ENSG00000124198	835	g.chr20:47591341G>A	exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	Esophageal Squamous(176;1738 1974 26285 33069 35354)			Esophageal Squamous(176;1738 1974 26285 33069 35354)			168.7243	KEEP	26	39	-1	20	37	26	39	-1	168.827038	20	37	0.533981	1	0	0	0	0	0	0	1	0	--	--		0	A				249	GBM-32-5222-TP	p.V568V	G	AGTGCCTCGTGTCCATTCTCA	NM_006420	NP_006411	47591341	Q9Y6D5	BIG2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		13	1856	+	A	A			Silent	568						
ARFGEF2	10564		GRCh37	20	47639713	47639713	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000371917.4:c.4750G>A	p.Ala1584Thr	p.A1584T	ENST00000371917	NM_006420.2	1584	Gcc/Acc	0																																																																																																																																																																																																																																												
ARHGAP10	0	broad.mit.edu	GRCh37	4	148944421	148944421	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01	TCGA-06-6695-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336498.3:c.1724G>A	p.Arg575Gln	p.R575Q	ENST00000336498	NM_024605.3	575	cGg/cAg	0	A:0.0002		1			A	R/Q	uc003ilf.2	protein_coding	YES	CCDS34075.1			1724/2361									skin(2)|pancreas(1)|lung(1)	4	c.(1723-1725)CGG>CAG			hmmpanther:PTHR12552,hmmpanther:PTHR12552:SF5,Gene3D:1.10.555.10,Superfamily_domains:SSF48350	Rho GTPase activating protein 10			A:0	ENSP00000336923		19/23	0.00014	9.61E-05	8.64E-05	0.000116		0.000195		6.06E-05	rs372199389,COSM3409081	19/23	.		ENST00000336498	Transcript			apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	ENSG00000071205	g.chr4:148944421G>A	26099			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=RHG10_HUMAN&rb=552&re=616&var=R575Q	getma.org/pdb.php?prot=RHG10_HUMAN&from=552&to=616&var=R575Q	getma.org/?cm=var&var=hg19,4,148944421,G,A&fts=all	R575Q	--	--	1																																		ARHGAP10_uc003ilg.2_Missense_Mutation_p.R224Q|ARHGAP10_uc003ilh.2_Missense_Mutation_p.R156Q|ARHGAP10_uc003ili.2_Missense_Mutation_p.R8Q	0,1	1		possibly_damaging(0.644)	p.R575Q	NM_024605	NP_078881		tolerated(0.48)	0,1	RHG10_HUMAN	ARHGAP10	HGNC	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	Q8ND72_HUMAN,Q3KQX3_HUMAN		19	1724	+	all_hematologic(180;0.151)	Renal(17;0.0166)	UPI000013EA63	575					SNV	ARHGAP10,missense_variant,p.Arg575Gln,ENST00000336498,NM_024605.3;ARHGAP10,missense_variant,p.Arg224Gln,ENST00000414545,;ARHGAP10,missense_variant,p.Arg253Gln,ENST00000507661,;ARHGAP10,non_coding_transcript_exon_variant,,ENST00000506054,;ARHGAP10,non_coding_transcript_exon_variant,,ENST00000506020,;ARHGAP10,non_coding_transcript_exon_variant,,ENST00000513548,;	uc003ilf.2	c.1724G>A	1963/3299	2	2			c.1724G>A						4	SNP	c.(1723-1725)CGG>CAG	32	32			skin(2)|pancreas(1)|lung(1)	4	Broad	Rho GTPase activating protein 10			148944421		0.488	ENSG00000071205	844	g.chr4:148944421G>A	apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding							87.690053	KEEP	17	19	-1	31	26	17	19	-1	88.639327	31	26	0.385542	1	0	0	0	0	1	0	0	0	--	--		0	A			ARHGAP10_uc003ilg.2_Missense_Mutation_p.R224Q|ARHGAP10_uc003ilh.2_Missense_Mutation_p.R156Q|ARHGAP10_uc003ili.2_Missense_Mutation_p.R8Q	110	GBM-06-6695-TP	p.R575Q	G	AAGATTTTTCGGACGCCGCCC	NM_024605	NP_078881	148944421	A1A4S6	RHG10_HUMAN	0		GBM - Glioblastoma multiforme(119;0.0423)	19	1724	+	A	A	all_hematologic(180;0.151)	Renal(17;0.0166)	Missense_Mutation	575						
ARHGAP20	0	broad.mit.edu	GRCh37	11	110495025	110495025	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-4928-01	TCGA-76-4928-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260283.4:c.364A>G	p.Asn122Asp	p.N122D	ENST00000260283	NM_020809.3	122	Aac/Gac	0			1			C	N/D	uc001pkz.1	protein_coding	YES	CCDS31673.1			364/3576									ovary(3)|kidney(2)	5	c.(364-366)AAC>GAC			Low_complexity_(Seg):seg,hmmpanther:PTHR23179,hmmpanther:PTHR23179:SF24,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	Rho GTPase activating protein 20				ENSP00000260283		16-May									COSM3397407,COSM3397408	16-May	.		ENST00000260283	Transcript			regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	ENSG00000137727	g.chr11:110495025T>C	18357			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=RHG20_HUMAN&rb=78&re=180&var=N122D	NA	getma.org/?cm=var&var=hg19,11,110495025,T,C&fts=all	N122D	--	--	1																																		ARHGAP20_uc001pky.1_Missense_Mutation_p.N99D|ARHGAP20_uc009yyb.1_Missense_Mutation_p.N86D|ARHGAP20_uc001pla.1_Missense_Mutation_p.N86D	1,1	1		benign(0.309)	p.N122D	NM_020809	NP_065860		deleterious(0.03)	1,1	RHG20_HUMAN	ARHGAP20	HGNC	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)			5	649	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	UPI000013D0BA	122			PH.		SNV	ARHGAP20,missense_variant,p.Asn122Asp,ENST00000260283,NM_020809.3;ARHGAP20,missense_variant,p.Asn99Asp,ENST00000524756,NM_001258415.1;ARHGAP20,missense_variant,p.Asn96Asp,ENST00000533353,NM_001258416.1;ARHGAP20,missense_variant,p.Asn86Asp,ENST00000527598,NM_001258418.1;ARHGAP20,missense_variant,p.Asn86Asp,ENST00000528829,NM_001258417.1;ARHGAP20,missense_variant,p.Asn96Asp,ENST00000357139,;	uc001pkz.1	c.364A>G	649/6189	3	3			c.364A>G						11	SNP	c.(364-366)AAC>GAC	7	7			ovary(3)|kidney(2)	5	Broad	Rho GTPase activating protein 20			110495025		0.269	ENSG00000137727	852	g.chr11:110495025T>C	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity							4.439883	KEEP	0	2	-1	5	9	0	2	-1	6.636567	5	9	0.125	1	0	0	0	0	1	0	0	0	--	--		0	C			ARHGAP20_uc001pky.1_Missense_Mutation_p.N99D|ARHGAP20_uc009yyb.1_Missense_Mutation_p.N86D|ARHGAP20_uc001pla.1_Missense_Mutation_p.N86D	268	GBM-76-4928-TP	p.N122D	T	atCTTAAAGTTATTGTTATAT	NM_020809	NP_065860	110495025	Q9P2F6	RHG20_HUMAN	0		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	5	649	-	C	C		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	Missense_Mutation	122			PH.			
ARHGAP21	57584	broad.mit.edu	GRCh37	10	24889768	24889768	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0154-01	TCGA-06-0154-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396432.2:c.2939C>G	p.Thr980Arg	p.T980R	ENST00000396432	NM_020824.3	980	aCg/aGg	0			1			C	T/R	uc001isb.2	protein_coding	YES	CCDS7144.2			2939/5877									ovary(7)|pancreas(1)	8	c.(2938-2940)ACG>AGG			PROSITE_profiles:PS50003,hmmpanther:PTHR23175:SF16,hmmpanther:PTHR23175,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	Rho GTPase activating protein 21				ENSP00000379709		14/26									COSM2149948,COSM3397057	14/26	.		ENST00000396432	Transcript			signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	ENSG00000107863	g.chr10:24889768G>C	23725			MODERATE		-0.11	neutral	getma.org/?cm=msa&ty=f&p=RHG21_HUMAN&rb=931&re=1039&var=T979R	getma.org/pdb.php?prot=RHG21_HUMAN&from=931&to=1039&var=T979R	getma.org/?cm=var&var=hg19,10,24889768,G,C&fts=all	T979R	--	--	1																																		ARHGAP21_uc010qdb.1_RNA|ARHGAP21_uc009xkl.1_Missense_Mutation_p.T980R|ARHGAP21_uc010qdc.1_Missense_Mutation_p.T815R	1,1	1		benign(0.319)	p.T980R	NM_020824	NP_065875		tolerated(0.44)	1,1	RHG21_HUMAN	ARHGAP21	HGNC	Q5T5U3	RHG21_HUMAN			E7ESW5_HUMAN		14	3426	-			UPI0001639C78	979			Interaction with ARF1 and ARF6.|PH.		SNV	ARHGAP21,missense_variant,p.Thr980Arg,ENST00000396432,NM_020824.3;ARHGAP21,missense_variant,p.Thr767Arg,ENST00000320481,;ARHGAP21,missense_variant,p.Thr980Arg,ENST00000446003,;ARHGAP21,missense_variant,p.Thr970Arg,ENST00000376410,;ARHGAP21,upstream_gene_variant,,ENST00000418033,;ARHGAP21,upstream_gene_variant,,ENST00000418325,;ARHGAP21,intron_variant,,ENST00000493154,;ARHGAP21,non_coding_transcript_exon_variant,,ENST00000486374,;	uc001isb.2	c.2939C>G	3426/7167	4	4			c.2939C>G						10	SNP	c.(2938-2940)ACG>AGG	36	36			ovary(7)|pancreas(1)	8	Broad	Rho GTPase activating protein 21			24889768		0.453	ENSG00000107863	853	g.chr10:24889768G>C	signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding							207.163638	KEEP	41	36	-1	43	54	41	36	-1	207.435453	43	54	0.556701	1	0	0	0	0	1	0	0	0	--	--		0	C			ARHGAP21_uc010qdb.1_RNA|ARHGAP21_uc009xkl.1_Missense_Mutation_p.T980R|ARHGAP21_uc010qdc.1_Missense_Mutation_p.T815R	26	GBM-06-0154-TP	p.T980R	G	AGACGGAGTCGTCTGCTCTCT	NM_020824	NP_065875	24889768	Q5T5U3	RHG21_HUMAN	0			14	3426	-	C	C			Missense_Mutation	979			Interaction with ARF1 and ARF6.|PH.			
ARHGAP21	0	broad.mit.edu	GRCh37	10	24873489	24873489	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-32-4719-01	TCGA-32-4719-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396432.2:c.5729T>G	p.Leu1910Arg	p.L1910R	ENST00000396432	NM_020824.3	1910	cTt/cGt	0			1			C	L/R	uc001isb.2	protein_coding	YES	CCDS7144.2			5729/5877									ovary(7)|pancreas(1)	8	c.(5728-5730)CTT>CGT			hmmpanther:PTHR23175:SF16,hmmpanther:PTHR23175	Rho GTPase activating protein 21				ENSP00000379709		26/26									COSM2157418	26/26	.		ENST00000396432	Transcript			signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	ENSG00000107863	g.chr10:24873489A>C	23725			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=RHG21_HUMAN&rb=1352&re=1955&var=L1909R	NA	getma.org/?cm=var&var=hg19,10,24873489,A,C&fts=all	L1909R	--	--	1																																		ARHGAP21_uc010qdb.1_RNA	1	1		benign(0.008)	p.L1910R	NM_020824	NP_065875		tolerated_low_confidence(0.4)	1	RHG21_HUMAN	ARHGAP21	HGNC	Q5T5U3	RHG21_HUMAN			E7ESW5_HUMAN		26	6216	-			UPI0001639C78	1909					SNV	ARHGAP21,missense_variant,p.Leu1910Arg,ENST00000396432,NM_020824.3;ARHGAP21,downstream_gene_variant,,ENST00000320481,;ARHGAP21,downstream_gene_variant,,ENST00000418033,;ARHGAP21,non_coding_transcript_exon_variant,,ENST00000486374,;ARHGAP21,downstream_gene_variant,,ENST00000477190,;	uc001isb.2	c.5729T>G	6216/7167	4	4			c.5729T>G						10	SNP	c.(5728-5730)CTT>CGT	35	35			ovary(7)|pancreas(1)	8	Broad	Rho GTPase activating protein 21			24873489		0.483	ENSG00000107863	853	g.chr10:24873489A>C	signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding							263.569857	KEEP	44	44	-1	19	27	44	44	-1	265.569789	19	27	0.638655	1	0	0	0	0	1	0	0	0	--	--		0	C			ARHGAP21_uc010qdb.1_RNA	248	GBM-32-4719-TP	p.L1910R	A	TATGGAAAGAAGGGGCCTGTT	NM_020824	NP_065875	24873489	Q5T5U3	RHG21_HUMAN	0			26	6216	-	C	C			Missense_Mutation	1909						
ARHGAP21	0	broad.mit.edu	GRCh37	10	24893252	24893252	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-4926-01	TCGA-76-4926-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396432.2:c.2710A>G	p.Lys904Glu	p.K904E	ENST00000396432	NM_020824.3	904	Aag/Gag	0			1			C	K/E	uc001isb.2	protein_coding	YES	CCDS7144.2			2710/5877									ovary(7)|pancreas(1)	8	c.(2710-2712)AAG>GAG			hmmpanther:PTHR23175:SF16,hmmpanther:PTHR23175	Rho GTPase activating protein 21				ENSP00000379709		26-Dec									COSM3397060,COSM3397061	26-Dec	.		ENST00000396432	Transcript			signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	ENSG00000107863	g.chr10:24893252T>C	23725			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=RHG21_HUMAN&rb=756&re=930&var=K903E	NA	getma.org/?cm=var&var=hg19,10,24893252,T,C&fts=all	K903E	--	--	1																																		ARHGAP21_uc010qdb.1_RNA|ARHGAP21_uc009xkl.1_Missense_Mutation_p.K904E|ARHGAP21_uc010qdc.1_Missense_Mutation_p.K739E	1,1	1		probably_damaging(0.994)	p.K904E	NM_020824	NP_065875		tolerated(0.11)	1,1	RHG21_HUMAN	ARHGAP21	HGNC	Q5T5U3	RHG21_HUMAN			E7ESW5_HUMAN		12	3197	-			UPI0001639C78	903					SNV	ARHGAP21,missense_variant,p.Lys904Glu,ENST00000396432,NM_020824.3;ARHGAP21,missense_variant,p.Lys691Glu,ENST00000320481,;ARHGAP21,missense_variant,p.Lys904Glu,ENST00000446003,;ARHGAP21,missense_variant,p.Lys894Glu,ENST00000376410,;ARHGAP21,non_coding_transcript_exon_variant,,ENST00000493154,;ARHGAP21,non_coding_transcript_exon_variant,,ENST00000486374,;ARHGAP21,downstream_gene_variant,,ENST00000476067,;	uc001isb.2	c.2710A>G	3197/7167	3	3			c.2710A>G						10	SNP	c.(2710-2712)AAG>GAG	64	64			ovary(7)|pancreas(1)	8	Broad	Rho GTPase activating protein 21			24893252		0.279	ENSG00000107863	853	g.chr10:24893252T>C	signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding							159.839782	KEEP	27	25	-1	15	25	27	25	-1	160.345788	15	25	0.589041	1	0	0	0	0	1	0	0	0	--	--		0	C			ARHGAP21_uc010qdb.1_RNA|ARHGAP21_uc009xkl.1_Missense_Mutation_p.K904E|ARHGAP21_uc010qdc.1_Missense_Mutation_p.K739E	266	GBM-76-4926-TP	p.K904E	T	TTGATTCCCTTCAGACTAGAT	NM_020824	NP_065875	24893252	Q5T5U3	RHG21_HUMAN	0			12	3197	-	C	C			Missense_Mutation	903						
ARHGAP22	0	broad.mit.edu	GRCh37	10	49667897	49667897	+	synonymous_variant	Silent	SNP	G	G	A	rs78086414		TCGA-14-1829-01	TCGA-14-1829-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000249601.4:c.489C>T	p.His163=	p.H163=	ENST00000249601	NM_021226.3	163	caC/caT	0	A:0	A:0	1	A:0		A	H	uc001jgt.2	protein_coding		CCDS7227.1			489/2097									ovary(1)	1	c.(487-489)CAC>CAT			Gene3D:1.10.555.10,PROSITE_profiles:PS50238,hmmpanther:PTHR13521,hmmpanther:PTHR13521:SF6,Superfamily_domains:SSF48350,Superfamily_domains:SSF50729	Rho GTPase activating protein 2		A:0.001	A:0.0001	ENSP00000249601	A:0	10-May	0.000552		0.000522	0.0021		1.55E-05		0.00255	rs78086414,COSM2144543,COSM2144542	10-May	common_variant		ENST00000249601	Transcript		A:0.0008	angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	ENSG00000128805	g.chr10:49667897G>A	30320			LOW								--	--	1																																		ARHGAP22_uc001jgs.2_Silent_p.H73H|ARHGAP22_uc001jgu.2_Silent_p.H179H|ARHGAP22_uc010qgl.1_Silent_p.H120H|ARHGAP22_uc010qgm.1_Silent_p.H169H|ARHGAP22_uc001jgv.2_Translation_Start_Site	0,1,1				p.H163H	NM_021226	NP_067049	A:0.0031		0,1,1	RHG22_HUMAN	ARHGAP22	HGNC	Q7Z5H3	RHG22_HUMAN					5	786	-			UPI00001B2971	163			Rho-GAP.		SNV	ARHGAP22,synonymous_variant,p.=,ENST00000249601,NM_021226.3,NM_001256024.1;ARHGAP22,synonymous_variant,p.=,ENST00000435790,NM_001256025.2;ARHGAP22,synonymous_variant,p.=,ENST00000374172,;ARHGAP22,synonymous_variant,p.=,ENST00000417912,;ARHGAP22,synonymous_variant,p.=,ENST00000417247,NM_001256026.1;ARHGAP22,synonymous_variant,p.=,ENST00000374170,;ARHGAP22,non_coding_transcript_exon_variant,,ENST00000489984,;ARHGAP22,intron_variant,,ENST00000471013,;ARHGAP22,intron_variant,,ENST00000515523,;ARHGAP22,synonymous_variant,p.=,ENST00000460425,;	uc001jgt.2	c.489C>T	786/2751	1	1			c.489C>T						10	SNP	c.(487-489)CAC>CAT	61	61			ovary(1)	1	Broad	Rho GTPase activating protein 2			49667897		0.642	ENSG00000128805	854	g.chr10:49667897G>A	angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity							100.614274	KEEP	14	24	-1	15	16	14	24	-1	100.708377	15	16	0.542373	1	0	0	0	0	0	0	1	0	--	--		0	A			ARHGAP22_uc001jgs.2_Silent_p.H73H|ARHGAP22_uc001jgu.2_Silent_p.H179H|ARHGAP22_uc010qgl.1_Silent_p.H120H|ARHGAP22_uc010qgm.1_Silent_p.H169H|ARHGAP22_uc001jgv.2_Translation_Start_Site	149	GBM-14-1829-TP	p.H163H	G	ACTTCCGCTCGTGGTGGACTG	NM_021226	NP_067049	49667897	Q7Z5H3	RHG22_HUMAN	0			5	786	-	A	A			Silent	163			Rho-GAP.			
ARHGAP24	83478	broad.mit.edu	GRCh37	4	86916597	86916597	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-02-2470-01	TCGA-02-2470-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395184.1:c.1790C>A	p.Pro597Gln	p.P597Q	ENST00000395184	NM_001025616.2	597	cCg/cAg	0			1			A	P/Q	uc003hpk.2	protein_coding	YES	CCDS34025.1			1790/2247										0	c.(1789-1791)CCG>CAG			hmmpanther:PTHR13521,hmmpanther:PTHR13521:SF5	Rho GTPase activating protein 24 isoform 1				ENSP00000378611		10-Sep									COSM3409597,COSM3409596	10-Sep	.		ENST00000395184	Transcript	1		angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	ENSG00000138639	g.chr4:86916597C>A	25361			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=RHG24_HUMAN&rb=344&re=660&var=P597Q	NA	getma.org/?cm=var&var=hg19,4,86916597,C,A&fts=all	P597Q	--	--	1																																		ARHGAP24_uc003hpl.2_Missense_Mutation_p.P502Q|ARHGAP24_uc010ikf.2_Missense_Mutation_p.P512Q|ARHGAP24_uc003hpm.2_Missense_Mutation_p.P504Q	1,1	1		possibly_damaging(0.627)	p.P597Q	NM_001025616	NP_001020787		tolerated(0.33)	1,1	RHG24_HUMAN	ARHGAP24	HGNC	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	D6RHH1_HUMAN,B3KUX7_HUMAN		9	2239	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	UPI00001AF1D9	597					SNV	ARHGAP24,missense_variant,p.Pro597Gln,ENST00000395184,NM_001025616.2,NM_001287805.1;ARHGAP24,missense_variant,p.Pro504Gln,ENST00000264343,NM_031305.2;ARHGAP24,missense_variant,p.Pro502Gln,ENST00000395183,NM_001042669.1;ARHGAP24,missense_variant,p.Pro512Gln,ENST00000514229,;RP13-514E23.2,downstream_gene_variant,,ENST00000610225,;	uc003hpk.2	c.1790C>A	2256/4661	2	2			c.1790C>A						4	SNP	c.(1789-1791)CCG>CAG	48	48				0	Broad	Rho GTPase activating protein 24 isoform 1			86916597		0.557	ENSG00000138639	855	g.chr4:86916597C>A	angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding							-26.072171	KEEP	3	1	0.25	76	76	3	1	0.25	8.988011	76	76	0.027972	1	0	0	0	0	1	0	0	0	--	--		0	A			ARHGAP24_uc003hpl.2_Missense_Mutation_p.P502Q|ARHGAP24_uc010ikf.2_Missense_Mutation_p.P512Q|ARHGAP24_uc003hpm.2_Missense_Mutation_p.P504Q	5	GBM-02-2470-TP	p.P597Q	C	GATGGGCCCCCGCAGGACGAC	NM_001025616	NP_001020787	86916597	Q8N264	RHG24_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	9	2239	+	A	A		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	Missense_Mutation	597						
ARHGAP25	9938	broad.mit.edu	GRCh37	2	69034467	69034467	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409202.3:c.529G>A	p.Val177Met	p.V177M	ENST00000409202		177	Gtg/Atg	0			1			A	V/M	uc002seu.2	protein_coding	YES	CCDS33214.2			529/1941									ovary(2)|breast(2)	4	c.(526-528)GTG>ATG			Superfamily_domains:SSF48350,SMART_domains:SM00324,Gene3D:1.10.555.10,hmmpanther:PTHR13521,hmmpanther:PTHR13521:SF4,PROSITE_profiles:PS50238	Rho GTPase activating protein 25 isoform a				ENSP00000386911		11-May									COSM3407938,COSM3407937,COSM3407939,COSM3407940	11-May	.		ENST00000409202	Transcript			regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	ENSG00000163219	g.chr2:69034467G>A	28951			MODERATE		2.795	medium	getma.org/?cm=msa&ty=f&p=RHG25_HUMAN&rb=159&re=353&var=V176M	getma.org/pdb.php?prot=RHG25_HUMAN&from=159&to=353&var=V176M	getma.org/?cm=var&var=hg19,2,69034467,G,A&fts=all	V176M	--	--	1																																		ARHGAP25_uc010yqk.1_Missense_Mutation_p.V151M|ARHGAP25_uc010fdg.2_Missense_Mutation_p.V177M|ARHGAP25_uc010yql.1_Missense_Mutation_p.V137M|ARHGAP25_uc002sev.2_Missense_Mutation_p.V170M|ARHGAP25_uc002sew.2_Missense_Mutation_p.V169M|ARHGAP25_uc002sex.2_Missense_Mutation_p.V170M|ARHGAP25_uc010fdh.1_RNA|ARHGAP25_uc002sey.2_Translation_Start_Site	1,1,1,1	1		probably_damaging(0.987)	p.V176M	NM_001007231	NP_001007232		deleterious(0)	1,1,1,1	RHG25_HUMAN	ARHGAP25	HGNC	P42331	RHG25_HUMAN			C9JB56_HUMAN		5	890	+			UPI0000251EDD	176			Rho-GAP.		SNV	ARHGAP25,missense_variant,p.Val176Met,ENST00000295381,NM_001007231.2;ARHGAP25,missense_variant,p.Val177Met,ENST00000409202,;ARHGAP25,missense_variant,p.Val170Met,ENST00000409220,NM_001166276.1;ARHGAP25,missense_variant,p.Val169Met,ENST00000409030,NM_014882.2;ARHGAP25,missense_variant,p.Val137Met,ENST00000467265,NM_001166277.1;ARHGAP25,missense_variant,p.Val36Met,ENST00000497259,;ARHGAP25,missense_variant,p.Val170Met,ENST00000497079,;ARHGAP25,missense_variant,p.Val151Met,ENST00000544262,;ARHGAP25,non_coding_transcript_exon_variant,,ENST00000456116,;ARHGAP25,non_coding_transcript_exon_variant,,ENST00000485700,;ARHGAP25,stop_gained,p.Trp108Ter,ENST00000488795,;ARHGAP25,missense_variant,p.Val151Met,ENST00000463483,;ARHGAP25,3_prime_UTR_variant,,ENST00000473986,;	uc002seu.2	c.526G>A	894/2945	2	2			c.526G>A						2	SNP	c.(526-528)GTG>ATG	47	47			ovary(2)|breast(2)	4	Broad	Rho GTPase activating protein 25 isoform a			69034467		0.562	ENSG00000163219	856	g.chr2:69034467G>A	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity							-3.252224	KEEP	5	0	-1	28	32	5	0	-1	8.970335	28	32	0.064516	1	0	0	0	0	1	0	0	0	--	--		0	A			ARHGAP25_uc010yqk.1_Missense_Mutation_p.V151M|ARHGAP25_uc010fdg.2_Missense_Mutation_p.V177M|ARHGAP25_uc010yql.1_Missense_Mutation_p.V137M|ARHGAP25_uc002sev.2_Missense_Mutation_p.V170M|ARHGAP25_uc002sew.2_Missense_Mutation_p.V169M|ARHGAP25_uc002sex.2_Missense_Mutation_p.V170M|ARHGAP25_uc010fdh.1_RNA|ARHGAP25_uc002sey.2_Translation_Start_Site	102	GBM-06-5858-TP	p.V176M	G	CCCCCATCTGGTGCCCATCCT	NM_001007231	NP_001007232	69034467	P42331	RHG25_HUMAN	0			5	890	+	A	A			Missense_Mutation	176			Rho-GAP.			
ARHGAP25	0	broad.mit.edu	GRCh37	2	69046427	69046427	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-14-0871-01	TCGA-14-0871-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409202.3:c.1176T>C	p.Ser392=	p.S392=	ENST00000409202		392	tcT/tcC	0			1			C	S	uc002seu.2	protein_coding	YES	CCDS33214.2			1176/1941									ovary(2)|breast(2)	4	c.(1171-1173)TCT>TCC			Low_complexity_(Seg):seg,hmmpanther:PTHR13521,hmmpanther:PTHR13521:SF4	Rho GTPase activating protein 25 isoform a				ENSP00000386911		11-Sep									COSM3407942,COSM3407941,COSM3407943	11-Sep	.		ENST00000409202	Transcript			regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	ENSG00000163219	g.chr2:69046427T>C	28951			LOW								--	--	1																																		ARHGAP25_uc010fdg.2_Silent_p.S392S|ARHGAP25_uc010yql.1_Silent_p.S352S|ARHGAP25_uc002sev.2_Silent_p.S385S|ARHGAP25_uc002sew.2_Silent_p.S384S|ARHGAP25_uc002sex.2_Silent_p.S385S|ARHGAP25_uc002sey.2_Silent_p.S118S	1,1,1	1			p.S391S	NM_001007231	NP_001007232			1,1,1	RHG25_HUMAN	ARHGAP25	HGNC	P42331	RHG25_HUMAN			C9JB56_HUMAN		9	1537	+			UPI0000251EDD	391					SNV	ARHGAP25,synonymous_variant,p.=,ENST00000295381,NM_001007231.2;ARHGAP25,synonymous_variant,p.=,ENST00000409202,;ARHGAP25,synonymous_variant,p.=,ENST00000409220,NM_001166276.1;ARHGAP25,synonymous_variant,p.=,ENST00000409030,NM_014882.2;ARHGAP25,synonymous_variant,p.=,ENST00000467265,NM_001166277.1;ARHGAP25,synonymous_variant,p.=,ENST00000497259,;ARHGAP25,synonymous_variant,p.=,ENST00000479844,;ARHGAP25,synonymous_variant,p.=,ENST00000497079,;ARHGAP25,downstream_gene_variant,,ENST00000544262,;ARHGAP25,downstream_gene_variant,,ENST00000473986,;ARHGAP25,downstream_gene_variant,,ENST00000463483,;ARHGAP25,downstream_gene_variant,,ENST00000488795,;	uc002seu.2	c.1173T>C	1541/2945	3	3			c.1173T>C						2	SNP	c.(1171-1173)TCT>TCC	52	52			ovary(2)|breast(2)	4	Broad	Rho GTPase activating protein 25 isoform a			69046427		0.532	ENSG00000163219	856	g.chr2:69046427T>C	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity							133.170719	KEEP	23	25	-1	93	95	23	25	-1	150.972222	93	95	0.204545	1	0	0	0	0	0	0	1	0	--	--		0	C			ARHGAP25_uc010fdg.2_Silent_p.S392S|ARHGAP25_uc010yql.1_Silent_p.S352S|ARHGAP25_uc002sev.2_Silent_p.S385S|ARHGAP25_uc002sew.2_Silent_p.S384S|ARHGAP25_uc002sex.2_Silent_p.S385S|ARHGAP25_uc002sey.2_Silent_p.S118S	141	GBM-14-0871-TP	p.S391S	T	TCCGAATTTCTAGGACAGACA	NM_001007231	NP_001007232	69046427	P42331	RHG25_HUMAN	0			9	1537	+	C	C			Silent	391						
ARHGAP25	9938		GRCh37	2	69053291	69053291	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000409202.3:c.1906G>A	p.Val636Ile	p.V636I	ENST00000409202		636	Gtc/Atc	0																																																																																																																																																																																																																																												
ARHGAP26	23092	broad.mit.edu	GRCh37	5	142281566	142281566	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs148543665		TCGA-06-0750-01	TCGA-06-0750-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274498.4:c.664G>A	p.Gly222Arg	p.G222R	ENST00000274498	NM_015071.4	222	Ggg/Agg	0	A:0		1			A	G/R	uc011dbj.1	protein_coding	YES	CCDS4277.1			664/2445									ovary(1)	1	c.(664-666)GGG>AGG			Gene3D:1y2oA00,hmmpanther:PTHR12552,hmmpanther:PTHR12552:SF4,Superfamily_domains:SSF103657	GTPase regulator associated with the focal			A:0.0001	ENSP00000274498		23-Jul	1.65E-05			0.000116		1.50E-05			rs148543665,COSM3209544	23-Jul	.		ENST00000274498	Transcript	1		actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	ENSG00000145819	g.chr5:142281566G>A	17073			MODERATE		-0.805	neutral	getma.org/?cm=msa&ty=f&p=RHG26_HUMAN&rb=27&re=232&var=G222R	NA	getma.org/?cm=var&var=hg19,5,142281566,G,A&fts=all	G222R	--	--	1																																		ARHGAP26_uc003lmt.2_Missense_Mutation_p.G222R|ARHGAP26_uc003lmw.2_Missense_Mutation_p.G222R	0,1	1		benign(0.097)	p.G222R	NM_015071	NP_055886		tolerated(0.44)	0,1	RHG26_HUMAN	ARHGAP26	HGNC	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Q9HBW4_HUMAN,Q8NFJ1_HUMAN,C9J6V4_HUMAN		7	699	+		all_hematologic(541;0.0416)	UPI0000130D6B	222					SNV	ARHGAP26,missense_variant,p.Gly222Arg,ENST00000378004,NM_001135608.1;ARHGAP26,missense_variant,p.Gly222Arg,ENST00000274498,NM_015071.4;ARHGAP26,upstream_gene_variant,,ENST00000477867,;ARHGAP26,non_coding_transcript_exon_variant,,ENST00000475287,;	uc011dbj.1	c.664G>A	1042/6862	2	2			c.664G>A						5	SNP	c.(664-666)GGG>AGG	20	20			ovary(1)	1	Broad	GTPase regulator associated with the focal			142281566		0.448	ENSG00000145819	857	g.chr5:142281566G>A	actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			831			831	55.831848	KEEP	21	9	-1	89	70	21	9	-1	73.555494	89	70	0.163636	1	0	0	0	0	1	0	0	0	--	--		0	A			ARHGAP26_uc003lmt.2_Missense_Mutation_p.G222R|ARHGAP26_uc003lmw.2_Missense_Mutation_p.G222R	70	GBM-06-0750-TP	p.G222R	G	CAAGGATTTCGGGGACTTCAA	NM_015071	NP_055886	142281566	Q9UNA1	RHG26_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	699	+	A	A		all_hematologic(541;0.0416)	Missense_Mutation	222						
ARHGAP28	0	broad.mit.edu	GRCh37	18	6859874	6859874	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0786-01	TCGA-14-0786-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000383472.4:c.704C>T	p.Ala235Val	p.A235V	ENST00000383472		235	gCg/gTg	0		T:0	1	T:0		T	A/V	uc010wzi.1	protein_coding					704/2190									pancreas(1)	1	c.(172-174)GCG>GTG			hmmpanther:PTHR14963,hmmpanther:PTHR14963:SF5	SubName: Full=Putative uncharacterized protein ARHGAP28;		T:0.003		ENSP00000372964	T:0	18-May	0.000198			0.00277					rs190733334,COSM3403629,COSM3403630	18-May	common_variant		ENST00000383472	Transcript		T:0.0006	signal transduction	intracellular		ENSG00000088756	g.chr18:6859874C>T	25509			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=RHG28_HUMAN&rb=53&re=311&var=A235V	NA	getma.org/?cm=var&var=hg19,18,6859874,C,T&fts=all	A235V	--	--	1																																		ARHGAP28_uc002knc.2_Missense_Mutation_p.A183V|ARHGAP28_uc002knd.2_Missense_Mutation_p.A76V|ARHGAP28_uc002kne.2_Missense_Mutation_p.A76V|ARHGAP28_uc002knf.2_Missense_Mutation_p.A67V	0,1,1			benign(0.002)	p.A58V			T:0	tolerated(0.29)	0,1,1	RHG28_HUMAN	ARHGAP28	HGNC	B4DXL2	B4DXL2_HUMAN			J3KTC0_HUMAN,E9PL26_HUMAN		4	411	+		Colorectal(10;0.168)	UPI0001E5E846	58					SNV	ARHGAP28,missense_variant,p.Ala76Val,ENST00000419673,NM_001010000.2;ARHGAP28,missense_variant,p.Ala76Val,ENST00000314319,;ARHGAP28,missense_variant,p.Ala183Val,ENST00000262227,;ARHGAP28,missense_variant,p.Ala235Val,ENST00000400091,;ARHGAP28,missense_variant,p.Ala235Val,ENST00000383472,;ARHGAP28,missense_variant,p.Ala71Val,ENST00000531294,;ARHGAP28,missense_variant,p.Ala58Val,ENST00000532996,;ARHGAP28,missense_variant,p.Ala76Val,ENST00000418986,;ARHGAP28,missense_variant,p.Ala76Val,ENST00000581099,;ARHGAP28,3_prime_UTR_variant,,ENST00000577524,;ARHGAP28,3_prime_UTR_variant,,ENST00000584287,;	uc010wzi.1	c.173C>T	808/2295	2	2			c.173C>T						18	SNP	c.(172-174)GCG>GTG	44	44			pancreas(1)	1	Broad	SubName: Full=Putative uncharacterized protein ARHGAP28;			6859874		0.433	ENSG00000088756	859	g.chr18:6859874C>T	signal transduction	intracellular								-40.839365	KEEP	1	4	-1	114	105	1	4	-1	8.856905	114	105	0.025126	1	0	0	0	0	1	0	0	0	--	--		0	T			ARHGAP28_uc002knc.2_Missense_Mutation_p.A183V|ARHGAP28_uc002knd.2_Missense_Mutation_p.A76V|ARHGAP28_uc002kne.2_Missense_Mutation_p.A76V|ARHGAP28_uc002knf.2_Missense_Mutation_p.A67V	134	GBM-14-0786-TP	p.A58V	C	GGGAGTTTTGCGGTTCCCAGG			6859874	B4DXL2	B4DXL2_HUMAN	0			4	411	+	T	T		Colorectal(10;0.168)	Missense_Mutation	58						
ARHGAP28	0	broad.mit.edu	GRCh37	18	6894892	6894892	+	splice_donor_variant	Splice_Site	SNP	T	T	C			TCGA-16-0861-01	TCGA-16-0861-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000383472.4:c.1905+2T>C		p.X635_splice	ENST00000383472				0			1			C		uc010wzi.1	protein_coding					1905/2190									pancreas(1)	1	c.e14+2				SubName: Full=Putative uncharacterized protein ARHGAP28;				ENSP00000372964											COSM3403633,COSM3403634		.		ENST00000383472	Transcript			signal transduction	intracellular		ENSG00000088756	g.chr18:6894892T>C	25509			HIGH	15/17							--	--	1																																		ARHGAP28_uc002knc.2_Splice_Site_p.M583_splice|ARHGAP28_uc002knd.2_Splice_Site_p.M476_splice|ARHGAP28_uc002kne.2_Splice_Site_p.M476_splice|ARHGAP28_uc002knf.2_Splice_Site_p.M467_splice	1,1				p.M458_splice					1,1	RHG28_HUMAN	ARHGAP28	HGNC	B4DXL2	B4DXL2_HUMAN			J3KTC0_HUMAN,E9PL26_HUMAN		14	1612	+		Colorectal(10;0.168)	UPI0001E5E846						SNV	ARHGAP28,splice_donor_variant,,ENST00000419673,NM_001010000.2;ARHGAP28,splice_donor_variant,,ENST00000314319,;ARHGAP28,splice_donor_variant,,ENST00000262227,;ARHGAP28,splice_donor_variant,,ENST00000400091,;ARHGAP28,splice_donor_variant,,ENST00000383472,;ARHGAP28,splice_donor_variant,,ENST00000531294,;ARHGAP28,splice_donor_variant,,ENST00000532996,;ARHGAP28,splice_donor_variant,,ENST00000418986,;ARHGAP28,downstream_gene_variant,,ENST00000579689,;ARHGAP28,upstream_gene_variant,,ENST00000579796,;	uc010wzi.1	c.1374_splice	-/2295	5	3			c.1374_splice						18	SNP	c.e14+2	15	15			pancreas(1)	1	Broad	SubName: Full=Putative uncharacterized protein ARHGAP28;			6894892		0.289	ENSG00000088756	859	g.chr18:6894892T>C	signal transduction	intracellular								173.283105	KEEP	25	32	-1	42	28	25	32	-1	173.407167	42	28	0.464286	1	0	0	0	0	0	0	0	1	--	--		0	C			ARHGAP28_uc002knc.2_Splice_Site_p.M583_splice|ARHGAP28_uc002knd.2_Splice_Site_p.M476_splice|ARHGAP28_uc002kne.2_Splice_Site_p.M476_splice|ARHGAP28_uc002knf.2_Splice_Site_p.M467_splice	156	GBM-16-0861-TP	p.M458_splice	T	AGACGAATGGTAAGAAAAATA			6894892	B4DXL2	B4DXL2_HUMAN	0			14	1612	+	C	C		Colorectal(10;0.168)	Splice_Site							
ARHGAP29	0	broad.mit.edu	GRCh37	1	94650593	94650594	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-32-2494-01	TCGA-32-2494-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260526.6:c.1943dupA	p.Cys649ValfsTer48	p.C649Vfs*48	ENST00000260526	NM_004815.3	648	aag/aaAg	0			1			T	K/KX	uc001dqj.3	protein_coding	YES	CCDS748.1			1943-1944/3786									breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11	c.(1942-1944)AAGfs			Gene3D:3.30.60.20,Pfam_domain:PF00130,PROSITE_patterns:PS00479,PROSITE_profiles:PS50081,hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF7,SMART_domains:SM00109,Superfamily_domains:SSF57889	PTPL1-associated RhoGAP 1				ENSP00000260526		18/23										18/23	.		ENST00000260526	Transcript			Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	ENSG00000137962	g.chr1:94650593_94650594insT	30207			HIGH								--	--	1																																		ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dqk.2_Frame_Shift_Ins_p.K214fs		1			p.K648fs	NM_004815	NP_004806				RHG29_HUMAN	ARHGAP29	HGNC	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)			18	2312_2313	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	UPI000013D0E4	648			Phorbol-ester/DAG-type.		insertion	ARHGAP29,frameshift_variant,p.Cys649ValfsTer48,ENST00000260526,NM_004815.3;ARHGAP29,non_coding_transcript_exon_variant,,ENST00000482481,;ARHGAP29,frameshift_variant,p.Cys649ValfsTer48,ENST00000552844,;	uc001dqj.3	c.1943_1944insA	2126-2127/6087	5	5			c.1943_1944insA						1	INS	c.(1942-1944)AAGfs	1	1			breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11	Broad	PTPL1-associated RhoGAP 1			94650594		0.361	ENSG00000137962	860	g.chr1:94650593_94650594insT	Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			391			391														0.3	1	0	0	1	1	0	0	0	0	--	--		0	T			ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dqk.2_Frame_Shift_Ins_p.K214fs	236	GBM-32-2494-TP	p.K648fs	-	TTTCCAAACACTTTCGATGACA	NM_004815	NP_004806	94650593	Q52LW3	RHG29_HUMAN	0		all cancers(265;0.0187)|Epithelial(280;0.159)	18	2312_2313	-	T	T		all_lung(203;0.000732)|Lung NSC(277;0.00328)	Frame_Shift_Ins	648			Phorbol-ester/DAG-type.			
ARHGAP32	9743	broad.mit.edu	GRCh37	11	128994764	128994764	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0649-01	TCGA-06-0649-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310343.9:c.251T>C	p.Ile84Thr	p.I84T	ENST00000310343	NM_001142685.1	84	aTt/aCt	0			1			G	I/T	uc009zcp.2	protein_coding	YES	CCDS44769.1			251/6264									lung(3)|ovary(2)	5	c.(250-252)ATT>ACT			hmmpanther:PTHR15729,hmmpanther:PTHR15729:SF9	Rho GTPase-activating protein isoform 1				ENSP00000310561		22-Mar									COSM3397552	22-Mar	.		ENST00000310343	Transcript			cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	ENSG00000134909	g.chr11:128994764A>G	17399			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=RHG32_HUMAN&rb=1&re=131&var=I84T	NA	getma.org/?cm=var&var=hg19,11,128994764,A,G&fts=all	I84T	--	--	1																																		ARHGAP32_uc009zcq.1_Missense_Mutation_p.I44T	1	1		possibly_damaging(0.791)	p.I84T	NM_001142685	NP_001136157		tolerated(0.16)	1	RHG32_HUMAN	ARHGAP32	HGNC	A7KAX9	RHG32_HUMAN			I7H0B0_HUMAN		3	251	-			UPI000159C61F	84					SNV	ARHGAP32,missense_variant,p.Ile84Thr,ENST00000310343,NM_001142685.1;ARHGAP32,missense_variant,p.Ile10Thr,ENST00000524655,;ARHGAP32,missense_variant,p.Ile44Thr,ENST00000525234,;	uc009zcp.2	c.251T>C	251/10111	3	3			c.251T>C						11	SNP	c.(250-252)ATT>ACT	61	61			lung(3)|ovary(2)	5	Broad	Rho GTPase-activating protein isoform 1			128994764		0.328	ENSG00000134909	863	g.chr11:128994764A>G	cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding							-12.666667	KEEP	3	3	-1	63	66	3	3	-1	12.118028	63	66	0.044643	1	0	0	0	0	1	0	0	0	--	--		0	G			ARHGAP32_uc009zcq.1_Missense_Mutation_p.I44T	62	GBM-06-0649-TP	p.I84T	A	ATCTCCAGGAATCTCTGGAAC	NM_001142685	NP_001136157	128994764	A7KAX9	RHG32_HUMAN	0			3	251	-	G	G			Missense_Mutation	84						
ARHGAP35	0	broad.mit.edu	GRCh37	19	47503900	47503901	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C			TCGA-27-2521-01	TCGA-27-2521-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000404338.3:c.4456dupC	p.Gln1486ProfsTer30	p.Q1486Pfs*30	ENST00000404338	NM_004491.4	1485	-/C	0			1			C	-/X	uc010ekv.2	protein_coding	YES	CCDS46127.1			4455-4456/4500									central_nervous_system(1)	1	c.(4453-4458)ATGCAGfs			Low_complexity_(Seg):seg,hmmpanther:PTHR23178,hmmpanther:PTHR23178:SF26	glucocorticoid receptor DNA binding factor 1				ENSP00000385720		6-Jun										6-Jun	.		ENST00000404338	Transcript			axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	ENSG00000160007	g.chr19:47503900_47503901insC	4591	1		HIGH								--	--	1																																				1			p.M1485fs	NM_004491	NP_004482				RHG35_HUMAN	ARHGAP35	HGNC	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)			6	4455_4456	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	UPI0000163F71	1485_1486			Pro-rich.		insertion	ARHGAP35,frameshift_variant,p.Gln1486ProfsTer30,ENST00000404338,NM_004491.4;ARHGAP35,downstream_gene_variant,,ENST00000598548,;ARHGAP35,downstream_gene_variant,,ENST00000596593,;ARHGAP35,non_coding_transcript_exon_variant,,ENST00000595822,;ARHGAP35,non_coding_transcript_exon_variant,,ENST00000599284,;	uc010ekv.2	c.4455_4456insC	4455-4456/8889	5	5			c.4455_4456insC						19	INS	c.(4453-4458)ATGCAGfs	26	26			central_nervous_system(1)	1	Broad	glucocorticoid receptor DNA binding factor 1			47503901		0.649	ENSG00000160007	6674	g.chr19:47503900_47503901insC	axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity																				0.36	1	0	0	1	1	0	0	0	0	--	--		0	C				200	GBM-27-2521-TP	p.M1485fs	-	AGTCCCCAATGCAGCCACTGCT	NM_004491	NP_004482	47503900	Q9NRY4	RHG35_HUMAN	0		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	6	4455_4456	+	C	C		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	Frame_Shift_Ins	1485_1486			Pro-rich.			
ARHGAP35	2909		GRCh37	19	47422855	47422855	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000404338.3:c.923A>G	p.Tyr308Cys	p.Y308C	ENST00000404338	NM_004491.4	308	tAt/tGt	0																																																																																																																																																																																																																																												
ARHGAP39	0	broad.mit.edu	GRCh37	8	145758601	145758601	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-4157-01	TCGA-14-4157-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276826.5:c.2704C>T	p.Arg902Cys	p.R902C	ENST00000276826		902	Cgc/Tgc	0			1			A	R/C	uc003zdt.1	protein_coding					2704/3252										0	c.(2704-2706)CGC>TGC			PROSITE_profiles:PS50238,hmmpanther:PTHR23177:SF9,hmmpanther:PTHR23177,Gene3D:1.10.555.10,Superfamily_domains:SSF48350	KIAA1688 protein				ENSP00000276826		10-Jul									COSM1183447	10-Jul	.		ENST00000276826	Transcript			axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	ENSG00000147799	g.chr8:145758601G>A	29351			MODERATE		2.965	medium	getma.org/?cm=msa&ty=f&p=RHG39_HUMAN&rb=890&re=1078&var=R902C	getma.org/pdb.php?prot=RHG39_HUMAN&from=890&to=1078&var=R902C	getma.org/?cm=var&var=hg19,8,145758601,G,A&fts=all	R902C	--	--	1																																		ARHGAP39_uc011llk.1_Missense_Mutation_p.R902C|ARHGAP39_uc003zds.1_Missense_Mutation_p.R933C	1			benign(0.032)	p.R902C	NM_025251	NP_079527		tolerated(0.08)	1	RHG39_HUMAN	ARHGAP39	HGNC	Q9C0H5	RHG39_HUMAN					9	3259	-			UPI000012DDC2	902			Rho-GAP.		SNV	ARHGAP39,missense_variant,p.Arg902Cys,ENST00000276826,;ARHGAP39,missense_variant,p.Arg933Cys,ENST00000377307,NM_025251.1;ARHGAP39,missense_variant,p.Arg902Cys,ENST00000540274,;C8orf82,upstream_gene_variant,,ENST00000524821,;C8orf82,upstream_gene_variant,,ENST00000313465,NM_001001795.1;C8orf82,upstream_gene_variant,,ENST00000532827,;C8orf82,upstream_gene_variant,,ENST00000527462,;ARHGAP39,downstream_gene_variant,,ENST00000528810,;C8orf82,upstream_gene_variant,,ENST00000534680,;	uc003zdt.1	c.2704C>T	2906/4697	2	2			c.2704C>T						8	SNP	c.(2704-2706)CGC>TGC	30	30				0	Broad	KIAA1688 protein			145758601		0.647	ENSG00000147799	866	g.chr8:145758601G>A	axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity							-15.489953	KEEP	2	3	-1	42	77	2	3	-1	8.766344	42	77	0.045455	1	0	0	0	0	1	0	0	0	--	--		0	A			ARHGAP39_uc011llk.1_Missense_Mutation_p.R902C|ARHGAP39_uc003zds.1_Missense_Mutation_p.R933C	152	GBM-14-4157-TP	p.R902C	G	TCGGGGTAGCGCTCTCTCTGC	NM_025251	NP_079527	145758601	Q9C0H5	RHG39_HUMAN	0			9	3259	-	A	A			Missense_Mutation	902			Rho-GAP.			
ARHGAP39	0	broad.mit.edu	GRCh37	8	145806268	145806268	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-32-4210-01	TCGA-32-4210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276826.5:c.474G>C	p.Arg158=	p.R158=	ENST00000276826		158	cgG/cgC	0			1			G	R	uc003zdt.1	protein_coding					474/3252										0	c.(472-474)CGG>CGC			hmmpanther:PTHR23177:SF9,hmmpanther:PTHR23177	KIAA1688 protein				ENSP00000276826		10-Feb									COSM3412871	10-Feb	.		ENST00000276826	Transcript			axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	ENSG00000147799	g.chr8:145806268C>G	29351			LOW								--	--	1																																		ARHGAP39_uc011llk.1_Silent_p.R158R|ARHGAP39_uc003zds.1_Silent_p.R158R	1				p.R158R	NM_025251	NP_079527			1	RHG39_HUMAN	ARHGAP39	HGNC	Q9C0H5	RHG39_HUMAN					4	1029	-			UPI000012DDC2	158					SNV	ARHGAP39,synonymous_variant,p.=,ENST00000276826,;ARHGAP39,synonymous_variant,p.=,ENST00000377307,NM_025251.1;ARHGAP39,synonymous_variant,p.=,ENST00000540274,;CTD-2517M22.9,upstream_gene_variant,,ENST00000529377,;	uc003zdt.1	c.474G>C	676/4697	4	4			c.474G>C						8	SNP	c.(472-474)CGG>CGC	26	26				0	Broad	KIAA1688 protein			145806268		0.657	ENSG00000147799	866	g.chr8:145806268C>G	axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity							4.20332	KEEP	2	2	-1	18	18	2	2	-1	8.996546	18	18	0.1	1	0	0	0	0	0	0	1	0	--	--		0	G			ARHGAP39_uc011llk.1_Silent_p.R158R|ARHGAP39_uc003zds.1_Silent_p.R158R	245	GBM-32-4210-TP	p.R158R	C	ACGCCGCGGGCCGCCCGGCCC	NM_025251	NP_079527	145806268	Q9C0H5	RHG39_HUMAN	0			4	1029	-	G	G			Silent	158						
ARHGAP39	80728		GRCh37	8	145771184	145771184	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000377307.2:c.1970T>C	p.Leu657Pro	p.L657P	ENST00000377307	NM_025251.1	657	cTc/cCc	0																																																																																																																																																																																																																																												
ARHGAP4	0	broad.mit.edu	GRCh37	X	153184317	153184317	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000350060.5:c.1001G>A	p.Arg334His	p.R334H	ENST00000350060	NM_001666.4	334	cGc/cAc	0			1			T	R/H	uc004fjk.1	protein_coding		CCDS14736.1			1001/2841									central_nervous_system(1)	1	c.(1000-1002)CGC>CAC			hmmpanther:PTHR14166,hmmpanther:PTHR14166:SF16,Superfamily_domains:SSF103657	Rho GTPase activating protein 4 isoform 2				ENSP00000203786		22-Jul									COSM1117664,COSM1599068	22-Jul	.		ENST00000350060	Transcript			apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	ENSG00000089820	g.chrX:153184317C>T	674			MODERATE		2.11	medium	getma.org/?cm=msa&ty=f&p=RHG04_HUMAN&rb=325&re=520&var=R334H	NA	getma.org/?cm=var&var=hg19,X,153184317,C,T&fts=all	R334H	--	--	1																																		ARHGAP4_uc011mzf.1_Missense_Mutation_p.R311H|ARHGAP4_uc004fjl.1_Missense_Mutation_p.R374H|ARHGAP4_uc010nup.1_RNA	1,1			benign(0.082)	p.R334H	NM_001666	NP_001657		deleterious(0)	1,1	RHG04_HUMAN	ARHGAP4	HGNC	P98171	RHG04_HUMAN			S4R352_HUMAN,S4R314_HUMAN,Q6PJ34_HUMAN,F5GZW3_HUMAN,C9JLA8_HUMAN,C9J5M2_HUMAN		7	1043	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		UPI000013C648	334					SNV	ARHGAP4,missense_variant,p.Arg374His,ENST00000370028,NM_001164741.1;ARHGAP4,missense_variant,p.Arg334His,ENST00000350060,NM_001666.4;ARHGAP4,missense_variant,p.Arg313His,ENST00000370016,;ARHGAP4,missense_variant,p.Arg311His,ENST00000537206,;ARHGAP4,missense_variant,p.Arg311His,ENST00000461052,;ARHGAP4,missense_variant,p.Arg109His,ENST00000422918,;ARHGAP4,intron_variant,,ENST00000393721,;ARHGAP4,downstream_gene_variant,,ENST00000488269,;ARHGAP4,downstream_gene_variant,,ENST00000442262,;ARHGAP4,downstream_gene_variant,,ENST00000418750,;ARHGAP4,downstream_gene_variant,,ENST00000422091,;ARHGAP4,downstream_gene_variant,,ENST00000470979,;ARHGAP4,missense_variant,p.Arg334His,ENST00000420383,;ARHGAP4,3_prime_UTR_variant,,ENST00000404127,;ARHGAP4,non_coding_transcript_exon_variant,,ENST00000470209,;ARHGAP4,non_coding_transcript_exon_variant,,ENST00000494813,;ARHGAP4,intron_variant,,ENST00000494302,;ARHGAP4,upstream_gene_variant,,ENST00000463905,;ARHGAP4,downstream_gene_variant,,ENST00000460782,;	uc004fjk.1	c.1001G>A	1043/3235	1	1			c.1001G>A						23	SNP	c.(1000-1002)CGC>CAC	7	7			central_nervous_system(1)	1	Broad	Rho GTPase activating protein 4 isoform 2			153184317		0.617	ENSG00000089820	867	g.chrX:153184317C>T	apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity							228.00389	KEEP	41	43	-1	26	26	41	43	-1	229.699125	26	26	0.627119	1	0	0	0	0	1	0	0	0	--	--		0	T			ARHGAP4_uc011mzf.1_Missense_Mutation_p.R311H|ARHGAP4_uc004fjl.1_Missense_Mutation_p.R374H|ARHGAP4_uc010nup.1_RNA	138	GBM-14-0813-TP	p.R334H	C	GTAGTCAAAGCGCAGCGGGGG	NM_001666	NP_001657	153184317	P98171	RHG04_HUMAN	0			7	1043	-	T	T	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	334						
ARHGAP4	393		GRCh37	X	153175809	153175809	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000370028.3:c.2092G>A	p.Val698Met	p.V698M	ENST00000370028	NM_001164741.1	698	Gtg/Atg	0																																																																																																																																																																																																																																												
ARHGAP44	0	broad.mit.edu	GRCh37	17	12847456	12847456	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-2524-01	TCGA-27-2524-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379672.5:c.804C>T	p.Ile268=	p.I268=	ENST00000379672	NM_014859.4	268	atC/atT	0			1			T	I	uc002gnr.3	protein_coding	YES	CCDS45616.1			804/2457										0	c.(802-804)ATC>ATT			PROSITE_profiles:PS50238,hmmpanther:PTHR14130,hmmpanther:PTHR14130:SF13,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350	Rho GTPase-activating protein RICH2				ENSP00000368994		21-Oct	1.65E-05					3.04E-05			rs766941988,COSM2737905	21-Oct	.		ENST00000379672	Transcript			regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	ENSG00000006740	g.chr17:12847456C>T	29096			LOW								--	--	1																																		RICH2_uc010vvk.1_Silent_p.I268I|RICH2_uc010vvl.1_Silent_p.I268I|RICH2_uc002gns.3_Silent_p.I68I|RICH2_uc010vvm.1_Silent_p.I268I|RICH2_uc010vvn.1_RNA|RICH2_uc002gnt.1_5'UTR	0,1	1			p.I268I	NM_014859	NP_055674			0,1	RHG44_HUMAN	ARHGAP44	HGNC	Q17R89	RHG44_HUMAN			J3QQU7_HUMAN		10	1131	+			UPI0000252116	268			Rho-GAP.		SNV	ARHGAP44,synonymous_variant,p.=,ENST00000379672,NM_014859.4;ARHGAP44,synonymous_variant,p.=,ENST00000340825,;ARHGAP44,synonymous_variant,p.=,ENST00000262444,;ARHGAP44,synonymous_variant,p.=,ENST00000544416,;ARHGAP44,3_prime_UTR_variant,,ENST00000580768,;	uc002gnr.3	c.804C>T	1104/4228	1	1			c.804C>T						17	SNP	c.(802-804)ATC>ATT	11	11				0	Broad	Rho GTPase-activating protein RICH2			12847456		0.632	ENSG00000006740	13140	g.chr17:12847456C>T	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity							40.765864	KEEP	8	12	-1	14	23	8	12	-1	42.083149	14	23	0.326531	1	0	0	0	0	0	0	1	0	--	--		0	T			RICH2_uc010vvk.1_Silent_p.I268I|RICH2_uc010vvl.1_Silent_p.I268I|RICH2_uc002gns.3_Silent_p.I68I|RICH2_uc010vvm.1_Silent_p.I268I|RICH2_uc010vvn.1_RNA|RICH2_uc002gnt.1_5'UTR	202	GBM-27-2524-TP	p.I268I	C	GCCGGGAGATCGCCTTCCCCA	NM_014859	NP_055674	12847456	Q17R89	RHG44_HUMAN	0			10	1131	+	T	T			Silent	268			Rho-GAP.			
ARHGAP44	0	broad.mit.edu	GRCh37	17	12887884	12887884	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-1991-01	TCGA-32-1991-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379672.5:c.1976C>A	p.Pro659His	p.P659H	ENST00000379672	NM_014859.4	659	cCc/cAc	0			1			A	P/H	uc002gnr.3	protein_coding	YES	CCDS45616.1			1976/2457										0	c.(1975-1977)CCC>CAC			hmmpanther:PTHR14130,hmmpanther:PTHR14130:SF13	Rho GTPase-activating protein RICH2				ENSP00000368994		20/21									COSM3402614	20/21	.		ENST00000379672	Transcript			regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	ENSG00000006740	g.chr17:12887884C>A	29096			MODERATE		1.585	low	getma.org/?cm=msa&ty=f&p=RHG44_HUMAN&rb=620&re=775&var=P659H	NA	getma.org/?cm=var&var=hg19,17,12887884,C,A&fts=all	P659H	--	--	1																																		RICH2_uc010vvk.1_Missense_Mutation_p.P659H|RICH2_uc010vvl.1_Missense_Mutation_p.P653H|RICH2_uc002gns.3_Missense_Mutation_p.P453H|RICH2_uc010vvm.1_Missense_Mutation_p.P653H|RICH2_uc010vvn.1_RNA	1	1		possibly_damaging(0.822)	p.P659H	NM_014859	NP_055674		deleterious_low_confidence(0.04)	1	RHG44_HUMAN	ARHGAP44	HGNC	Q17R89	RHG44_HUMAN			J3QQU7_HUMAN		20	2303	+			UPI0000252116	659					SNV	ARHGAP44,missense_variant,p.Pro659His,ENST00000379672,NM_014859.4;ARHGAP44,missense_variant,p.Pro653His,ENST00000340825,;ARHGAP44,missense_variant,p.Pro659His,ENST00000262444,;ARHGAP44,missense_variant,p.Pro55His,ENST00000581437,;ARHGAP44,downstream_gene_variant,,ENST00000578087,;ARHGAP44,synonymous_variant,p.=,ENST00000544416,;ARHGAP44,3_prime_UTR_variant,,ENST00000580768,;ARHGAP44,non_coding_transcript_exon_variant,,ENST00000584974,;	uc002gnr.3	c.1976C>A	2276/4228	2	2			c.1976C>A						17	SNP	c.(1975-1977)CCC>CAC	23	23				0	Broad	Rho GTPase-activating protein RICH2			12887884		0.582	ENSG00000006740	13140	g.chr17:12887884C>A	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity							98.602794	KEEP	22	17	0.435897436	30	33	22	17	0.435897436	99.408974	30	33	0.397727	1	0	0	0	0	1	0	0	0	--	--		0	A			RICH2_uc010vvk.1_Missense_Mutation_p.P659H|RICH2_uc010vvl.1_Missense_Mutation_p.P653H|RICH2_uc002gns.3_Missense_Mutation_p.P453H|RICH2_uc010vvm.1_Missense_Mutation_p.P653H|RICH2_uc010vvn.1_RNA	234	GBM-32-1991-TP	p.P659H	C	CCCAAGGTCCCCTTTGGCCAG	NM_014859	NP_055674	12887884	Q17R89	RHG44_HUMAN	0			20	2303	+	A	A			Missense_Mutation	659						
ARHGAP5	394	broad.mit.edu	GRCh37	14	32561267	32561267	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0744-01	TCGA-06-0744-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345122.3:c.1392A>G	p.Lys464=	p.K464=	ENST00000345122	NM_001030055.1	464	aaA/aaG	0			1			G	K	uc001wrl.2	protein_coding	YES	CCDS32062.1			1392/4509									ovary(4)|central_nervous_system(1)	5	c.(1390-1392)AAA>AAG			PROSITE_profiles:PS51676,hmmpanther:PTHR15377,hmmpanther:PTHR15377:SF4,SMART_domains:SM00441,Superfamily_domains:SSF81698	Rho GTPase activating protein 5 isoform b				ENSP00000371897		7-Feb									COSM2149412	7-Feb	.		ENST00000345122	Transcript			cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	ENSG00000100852	g.chr14:32561267A>G	675			LOW								--	--	1																																		ARHGAP5_uc001wrm.2_Silent_p.K464K|ARHGAP5_uc001wrn.2_Silent_p.K464K|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	1	1			p.K464K	NM_001173	NP_001025226			1	RHG05_HUMAN	ARHGAP5	HGNC	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	G3V5I7_HUMAN,G3V444_HUMAN,G3V360_HUMAN		2	1631	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		UPI000057B85C	464			FF 3.		SNV	ARHGAP5,synonymous_variant,p.=,ENST00000345122,NM_001030055.1;ARHGAP5,synonymous_variant,p.=,ENST00000432921,NM_001173.2;ARHGAP5,synonymous_variant,p.=,ENST00000539826,;ARHGAP5,synonymous_variant,p.=,ENST00000556611,;ARHGAP5,intron_variant,,ENST00000396582,;ARHGAP5,intron_variant,,ENST00000433497,;ARHGAP5,intron_variant,,ENST00000554090,;ARHGAP5,downstream_gene_variant,,ENST00000556191,;ARHGAP5,downstream_gene_variant,,ENST00000555814,;ARHGAP5,upstream_gene_variant,,ENST00000557643,;	uc001wrl.2	c.1392A>G	1707/9604	3	3			c.1392A>G						14	SNP	c.(1390-1392)AAA>AAG	16	16			ovary(4)|central_nervous_system(1)	5	Broad	Rho GTPase activating protein 5 isoform b			32561267		0.373	ENSG00000100852	868	g.chr14:32561267A>G	cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	NSCLC(9;77 350 3443 29227 41353)			NSCLC(9;77 350 3443 29227 41353)			-15.250921	KEEP	13	217	-1	58	43	13	217	-1	6.978341	58	43	0.032258	1	0	0	0	0	0	0	1	0	--	--		0	G			ARHGAP5_uc001wrm.2_Silent_p.K464K|ARHGAP5_uc001wrn.2_Silent_p.K464K|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	66	GBM-06-0744-TP	p.K464K	A	AAGCCTACAAATATATCACTG	NM_001173	NP_001025226	32561267	Q13017	RHG05_HUMAN	0	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	1631	+	G	G	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		Silent	464			FF 3.			
ARHGAP5	394	broad.mit.edu	GRCh37	14	32561946	32561946	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0744-01	TCGA-06-0744-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345122.3:c.2071A>T	p.Met691Leu	p.M691L	ENST00000345122	NM_001030055.1	691	Atg/Ttg	0			1			T	M/L	uc001wrl.2	protein_coding	YES	CCDS32062.1			2071/4509									ovary(4)|central_nervous_system(1)	5	c.(2071-2073)ATG>TTG			hmmpanther:PTHR15377,hmmpanther:PTHR15377:SF4	Rho GTPase activating protein 5 isoform b				ENSP00000371897		7-Feb									COSM3401295	7-Feb	.		ENST00000345122	Transcript			cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	ENSG00000100852	g.chr14:32561946A>T	675			MODERATE		-0.6	neutral	getma.org/?cm=msa&ty=f&p=RHG05_HUMAN&rb=546&re=745&var=M691L	NA	getma.org/?cm=var&var=hg19,14,32561946,A,T&fts=all	M691L	--	--	1																																		ARHGAP5_uc001wrm.2_Missense_Mutation_p.M691L|ARHGAP5_uc001wrn.2_Missense_Mutation_p.M691L|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	1	1		benign(0.001)	p.M691L	NM_001173	NP_001025226		tolerated(1)	1	RHG05_HUMAN	ARHGAP5	HGNC	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	G3V5I7_HUMAN,G3V444_HUMAN,G3V360_HUMAN		2	2310	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		UPI000057B85C	691					SNV	ARHGAP5,missense_variant,p.Met691Leu,ENST00000345122,NM_001030055.1;ARHGAP5,missense_variant,p.Met691Leu,ENST00000432921,NM_001173.2;ARHGAP5,missense_variant,p.Met691Leu,ENST00000539826,;ARHGAP5,missense_variant,p.Met691Leu,ENST00000556611,;ARHGAP5,intron_variant,,ENST00000396582,;ARHGAP5,intron_variant,,ENST00000433497,;ARHGAP5,intron_variant,,ENST00000554090,;ARHGAP5,downstream_gene_variant,,ENST00000556191,;ARHGAP5,downstream_gene_variant,,ENST00000555814,;ARHGAP5,upstream_gene_variant,,ENST00000557643,;	uc001wrl.2	c.2071A>T	2386/9604	2	2			c.2071A>T						14	SNP	c.(2071-2073)ATG>TTG	48	48			ovary(4)|central_nervous_system(1)	5	Broad	Rho GTPase activating protein 5 isoform b			32561946		0.358	ENSG00000100852	868	g.chr14:32561946A>T	cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	NSCLC(9;77 350 3443 29227 41353)			NSCLC(9;77 350 3443 29227 41353)			-14.9551	KEEP	2	1	-1	63	26	2	1	-1	6.707167	63	26	0.032967	1	0	0	0	0	1	0	0	0	--	--		0	T			ARHGAP5_uc001wrm.2_Missense_Mutation_p.M691L|ARHGAP5_uc001wrn.2_Missense_Mutation_p.M691L|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	66	GBM-06-0744-TP	p.M691L	A	AGATAAATACATGGCTAATCT	NM_001173	NP_001025226	32561946	Q13017	RHG05_HUMAN	0	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	2310	+	T	T	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		Missense_Mutation	691						
ARHGAP5	0	broad.mit.edu	GRCh37	14	32561686	32561686	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-12-5299-01	TCGA-12-5299-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345122.3:c.1811A>T	p.Asp604Val	p.D604V	ENST00000345122	NM_001030055.1	604	gAt/gTt	0			1			T	D/V	uc001wrl.2	protein_coding	YES	CCDS32062.1			1811/4509									ovary(4)|central_nervous_system(1)	5	c.(1810-1812)GAT>GTT			hmmpanther:PTHR15377,hmmpanther:PTHR15377:SF4	Rho GTPase activating protein 5 isoform b				ENSP00000371897		7-Feb									COSM3401294	7-Feb	.		ENST00000345122	Transcript			cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	ENSG00000100852	g.chr14:32561686A>T	675			MODERATE		1.545	low	getma.org/?cm=msa&ty=f&p=RHG05_HUMAN&rb=546&re=745&var=D604V	NA	getma.org/?cm=var&var=hg19,14,32561686,A,T&fts=all	D604V	--	--	1																																		ARHGAP5_uc001wrm.2_Missense_Mutation_p.D604V|ARHGAP5_uc001wrn.2_Missense_Mutation_p.D604V|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	1	1		probably_damaging(0.973)	p.D604V	NM_001173	NP_001025226		deleterious(0)	1	RHG05_HUMAN	ARHGAP5	HGNC	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	G3V5I7_HUMAN,G3V444_HUMAN,G3V360_HUMAN		2	2050	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		UPI000057B85C	604					SNV	ARHGAP5,missense_variant,p.Asp604Val,ENST00000345122,NM_001030055.1;ARHGAP5,missense_variant,p.Asp604Val,ENST00000432921,NM_001173.2;ARHGAP5,missense_variant,p.Asp604Val,ENST00000539826,;ARHGAP5,missense_variant,p.Asp604Val,ENST00000556611,;ARHGAP5,intron_variant,,ENST00000396582,;ARHGAP5,intron_variant,,ENST00000433497,;ARHGAP5,intron_variant,,ENST00000554090,;ARHGAP5,downstream_gene_variant,,ENST00000556191,;ARHGAP5,downstream_gene_variant,,ENST00000555814,;ARHGAP5,upstream_gene_variant,,ENST00000557643,;	uc001wrl.2	c.1811A>T	2126/9604	2	2			c.1811A>T						14	SNP	c.(1810-1812)GAT>GTT	36	36			ovary(4)|central_nervous_system(1)	5	Broad	Rho GTPase activating protein 5 isoform b			32561686		0.373	ENSG00000100852	868	g.chr14:32561686A>T	cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	NSCLC(9;77 350 3443 29227 41353)			NSCLC(9;77 350 3443 29227 41353)			-45.781908	KEEP	10	2	-1	113	100	10	2	-1	6.780806	113	100	0.019704	1	0	0	0	0	1	0	0	0	--	--		0	T			ARHGAP5_uc001wrm.2_Missense_Mutation_p.D604V|ARHGAP5_uc001wrn.2_Missense_Mutation_p.D604V|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	130	GBM-12-5299-TP	p.D604V	A	TTAGGGAAGGATGGCCTTGCC	NM_001173	NP_001025226	32561686	Q13017	RHG05_HUMAN	0	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	2050	+	T	T	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		Missense_Mutation	604						
ARHGAP5	0	broad.mit.edu	GRCh37	14	32561946	32561946	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-41-3393-01	TCGA-41-3393-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345122.3:c.2071A>T	p.Met691Leu	p.M691L	ENST00000345122	NM_001030055.1	691	Atg/Ttg	0			1			T	M/L	uc001wrl.2	protein_coding	YES	CCDS32062.1			2071/4509									ovary(4)|central_nervous_system(1)	5	c.(2071-2073)ATG>TTG			hmmpanther:PTHR15377,hmmpanther:PTHR15377:SF4	Rho GTPase activating protein 5 isoform b				ENSP00000371897		7-Feb									COSM3401295	7-Feb	.		ENST00000345122	Transcript			cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	ENSG00000100852	g.chr14:32561946A>T	675			MODERATE		-0.6	neutral	getma.org/?cm=msa&ty=f&p=RHG05_HUMAN&rb=546&re=745&var=M691L	NA	getma.org/?cm=var&var=hg19,14,32561946,A,T&fts=all	M691L	--	--	1																																		ARHGAP5_uc001wrm.2_Missense_Mutation_p.M691L|ARHGAP5_uc001wrn.2_Missense_Mutation_p.M691L|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	1	1		benign(0.001)	p.M691L	NM_001173	NP_001025226		tolerated(1)	1	RHG05_HUMAN	ARHGAP5	HGNC	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	G3V5I7_HUMAN,G3V444_HUMAN,G3V360_HUMAN		2	2310	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		UPI000057B85C	691					SNV	ARHGAP5,missense_variant,p.Met691Leu,ENST00000345122,NM_001030055.1;ARHGAP5,missense_variant,p.Met691Leu,ENST00000432921,NM_001173.2;ARHGAP5,missense_variant,p.Met691Leu,ENST00000539826,;ARHGAP5,missense_variant,p.Met691Leu,ENST00000556611,;ARHGAP5,intron_variant,,ENST00000396582,;ARHGAP5,intron_variant,,ENST00000433497,;ARHGAP5,intron_variant,,ENST00000554090,;ARHGAP5,downstream_gene_variant,,ENST00000556191,;ARHGAP5,downstream_gene_variant,,ENST00000555814,;ARHGAP5,upstream_gene_variant,,ENST00000557643,;	uc001wrl.2	c.2071A>T	2386/9604	2	2			c.2071A>T						14	SNP	c.(2071-2073)ATG>TTG	48	48			ovary(4)|central_nervous_system(1)	5	Broad	Rho GTPase activating protein 5 isoform b			32561946		0.358	ENSG00000100852	868	g.chr14:32561946A>T	cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	NSCLC(9;77 350 3443 29227 41353)			NSCLC(9;77 350 3443 29227 41353)			-13.048486	KEEP	0	4	-1	50	40	0	4	-1	6.897287	50	40	0.035294	1	0	0	0	0	1	0	0	0	--	--		0	T			ARHGAP5_uc001wrm.2_Missense_Mutation_p.M691L|ARHGAP5_uc001wrn.2_Missense_Mutation_p.M691L|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	255	GBM-41-3393-TP	p.M691L	A	AGATAAATACATGGCTAATCT	NM_001173	NP_001025226	32561946	Q13017	RHG05_HUMAN	0	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	2310	+	T	T	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		Missense_Mutation	691						
ARHGAP5	394		GRCh37	14	32560334	32560334	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000345122.3:c.459G>A	p.Lys153=	p.K153=	ENST00000345122	NM_001030055.1	153	aaG/aaA	0																																																																																																																																																																																																																																												
ARHGAP6	0	broad.mit.edu	GRCh37	X	11160414	11160414	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0790-01	TCGA-14-0790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337414.4:c.2196C>T	p.Phe732=	p.F732=	ENST00000337414	NM_013427.2	732	ttC/ttT	0			1			A	F	uc004cup.1	protein_coding	YES	CCDS14140.1			2196/2925									urinary_tract(1)|lung(1)	2	c.(2194-2196)TTC>TTT			hmmpanther:PTHR12635,hmmpanther:PTHR12635:SF3	Rho GTPase activating protein 6 isoform 1				ENSP00000338967		13-Dec	4.94E-05					2.09E-05		0.000198	rs774954368,COSM3405850	13-Dec	.		ENST00000337414	Transcript			actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	ENSG00000047648	g.chrX:11160414G>A	676			LOW								--	--	1																																		ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cum.1_Silent_p.F529F|ARHGAP6_uc004cun.1_Silent_p.F552F	0,1	1			p.F732F	NM_013427	NP_038286			0,1	RHG06_HUMAN	ARHGAP6	HGNC	O43182	RHG06_HUMAN			B4DN35_HUMAN		12	3069	-			UPI00001AED54	732					SNV	ARHGAP6,synonymous_variant,p.=,ENST00000337414,NM_013427.2;ARHGAP6,synonymous_variant,p.=,ENST00000303025,NM_013423.2;ARHGAP6,synonymous_variant,p.=,ENST00000380736,NM_001287242.1;ARHGAP6,synonymous_variant,p.=,ENST00000534860,;ARHGAP6,downstream_gene_variant,,ENST00000380718,NM_006125.2;ARHGAP6,downstream_gene_variant,,ENST00000380717,;ARHGAP6,downstream_gene_variant,,ENST00000413512,;ARHGAP6,3_prime_UTR_variant,,ENST00000495242,;ARHGAP6,non_coding_transcript_exon_variant,,ENST00000489330,;	uc004cup.1	c.2196C>T	3069/5117	2	2			c.2196C>T						23	SNP	c.(2194-2196)TTC>TTT	25	25			urinary_tract(1)|lung(1)	2	Broad	Rho GTPase activating protein 6 isoform 1			11160414		0.318	ENSG00000047648	869	g.chrX:11160414G>A	actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity							435.68788	KEEP	68	95	-1	82	99	68	95	-1	435.750511	82	99	0.483986	1	0	0	0	0	0	0	1	0	--	--		0	A			ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cum.1_Silent_p.F529F|ARHGAP6_uc004cun.1_Silent_p.F552F	137	GBM-14-0790-TP	p.F732F	G	CCCAGATATCGAAAGGCTCCT	NM_013427	NP_038286	11160414	O43182	RHG06_HUMAN	0			12	3069	-	A	A			Silent	732						
ARHGAP6	0	broad.mit.edu	GRCh37	X	11682473	11682473	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5211-01	TCGA-28-5211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337414.4:c.476C>T	p.Ser159Phe	p.S159F	ENST00000337414	NM_013427.2	159	tCc/tTc	0			1			A	S/F	uc004cup.1	protein_coding	YES	CCDS14140.1			476/2925									urinary_tract(1)|lung(1)	2	c.(475-477)TCC>TTC			Low_complexity_(Seg):seg,hmmpanther:PTHR12635,hmmpanther:PTHR12635:SF3	Rho GTPase activating protein 6 isoform 1				ENSP00000338967		13-Jan									COSM3405863,COSM3405864,COSM3405865	13-Jan	.		ENST00000337414	Transcript			actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	ENSG00000047648	g.chrX:11682473G>A	676			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=RHG06_HUMAN&rb=1&re=198&var=S159F	NA	getma.org/?cm=var&var=hg19,X,11682473,G,A&fts=all	S159F	--	--	1																																		ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.S159F	1,1,1	1		benign(0.259)	p.S159F	NM_013427	NP_038286		tolerated_low_confidence(0.32)	1,1,1	RHG06_HUMAN	ARHGAP6	HGNC	O43182	RHG06_HUMAN			B4DN35_HUMAN		1	1349	-			UPI00001AED54	159					SNV	ARHGAP6,missense_variant,p.Ser159Phe,ENST00000337414,NM_013427.2;ARHGAP6,missense_variant,p.Ser159Phe,ENST00000380718,NM_006125.2;ARHGAP6,missense_variant,p.Ser159Phe,ENST00000380732,;ARHGAP6,missense_variant,p.Ser159Phe,ENST00000495242,;ARHGAP6,non_coding_transcript_exon_variant,,ENST00000489330,;	uc004cup.1	c.476C>T	1349/5117	2	2			c.476C>T						23	SNP	c.(475-477)TCC>TTC	36	36			urinary_tract(1)|lung(1)	2	Broad	Rho GTPase activating protein 6 isoform 1			11682473		0.657	ENSG00000047648	869	g.chrX:11682473G>A	actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity							25.211503	KEEP	6	6	-1	6	7	6	6	-1	25.221526	6	7	0.478261	1	0	0	0	0	1	0	0	0	--	--		0	A			ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.S159F	219	GBM-28-5211-TP	p.S159F	G	GCCTCCCCCGGATGAACAGAG	NM_013427	NP_038286	11682473	O43182	RHG06_HUMAN	0			1	1349	-	A	A			Missense_Mutation	159						
ARHGAP6	0	broad.mit.edu	GRCh37	X	11272748	11272748	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-4929-01	TCGA-76-4929-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337414.4:c.668A>G	p.Glu223Gly	p.E223G	ENST00000337414	NM_013427.2	223	gAg/gGg	0			1			C	E/G	uc004cup.1	protein_coding	YES	CCDS14140.1			668/2925									urinary_tract(1)|lung(1)	2	c.(667-669)GAG>GGG			hmmpanther:PTHR12635,hmmpanther:PTHR12635:SF3	Rho GTPase activating protein 6 isoform 1				ENSP00000338967		13-Feb									COSM3405852,COSM3405853,COSM3405854	13-Feb	.		ENST00000337414	Transcript			actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	ENSG00000047648	g.chrX:11272748T>C	676			MODERATE		1.895	low	getma.org/?cm=msa&ty=f&p=RHG06_HUMAN&rb=199&re=398&var=E223G	NA	getma.org/?cm=var&var=hg19,X,11272748,T,C&fts=all	E223G	--	--	1																																		ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.E223G|ARHGAP6_uc004cum.1_Missense_Mutation_p.E20G|ARHGAP6_uc004cun.1_Missense_Mutation_p.E43G|ARHGAP6_uc010neb.1_Missense_Mutation_p.E45G|ARHGAP6_uc011mif.1_Missense_Mutation_p.E20G	1,1,1	1		probably_damaging(1)	p.E223G	NM_013427	NP_038286		deleterious(0)	1,1,1	RHG06_HUMAN	ARHGAP6	HGNC	O43182	RHG06_HUMAN			B4DN35_HUMAN		2	1541	-			UPI00001AED54	223					SNV	ARHGAP6,missense_variant,p.Glu223Gly,ENST00000337414,NM_013427.2;ARHGAP6,missense_variant,p.Glu20Gly,ENST00000303025,NM_013423.2;ARHGAP6,missense_variant,p.Glu20Gly,ENST00000380736,NM_001287242.1;ARHGAP6,missense_variant,p.Glu223Gly,ENST00000380718,NM_006125.2;ARHGAP6,missense_variant,p.Glu59Gly,ENST00000380717,;ARHGAP6,missense_variant,p.Glu48Gly,ENST00000534860,;ARHGAP6,missense_variant,p.Glu255Gly,ENST00000380732,;ARHGAP6,missense_variant,p.Glu32Gly,ENST00000413512,;ARHGAP6,missense_variant,p.Glu255Gly,ENST00000495242,;ARHGAP6,non_coding_transcript_exon_variant,,ENST00000489330,;	uc004cup.1	c.668A>G	1541/5117	3	3			c.668A>G						23	SNP	c.(667-669)GAG>GGG	1	1			urinary_tract(1)|lung(1)	2	Broad	Rho GTPase activating protein 6 isoform 1			11272748		0.522	ENSG00000047648	869	g.chrX:11272748T>C	actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity							-33.729709	KEEP	5	5	-1	128	135	5	5	-1	20.704777	128	135	0.038136	1	0	0	0	0	1	0	0	0	--	--		0	C			ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.E223G|ARHGAP6_uc004cum.1_Missense_Mutation_p.E20G|ARHGAP6_uc004cun.1_Missense_Mutation_p.E43G|ARHGAP6_uc010neb.1_Missense_Mutation_p.E45G|ARHGAP6_uc011mif.1_Missense_Mutation_p.E20G	269	GBM-76-4929-TP	p.E223G	T	CCGGGCCCTCTCCAGCTCTGA	NM_013427	NP_038286	11272748	O43182	RHG06_HUMAN	0			2	1541	-	C	C			Missense_Mutation	223						
ARHGAP9	64333	broad.mit.edu	GRCh37	12	57872982	57872982	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01	TCGA-06-0185-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393791.3:c.208C>T	p.Pro70Ser	p.P70S	ENST00000393791	NM_032496.2	70	Ccc/Tcc	0			1			A	P/S	uc001sod.2	protein_coding	YES	CCDS8941.2			208/2196									lung(1)	1	c.(421-423)CCC>TCC			PROSITE_profiles:PS50002,hmmpanther:PTHR23181,hmmpanther:PTHR23181:SF4,Gene3D:2.30.30.40,Superfamily_domains:SSF50044	Rho GTPase activating protein 9 isoform 1				ENSP00000377380		18-Feb									COSM2150523	18-Feb	.		ENST00000393791	Transcript			regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	ENSG00000123329	g.chr12:57872982G>A	14130			MODERATE		-0.805	neutral	getma.org/?cm=msa&ty=f&p=RHG09_HUMAN&rb=28&re=70&var=P70S	NA	getma.org/?cm=var&var=hg19,12,57872982,G,A&fts=all	P70S	--	--	1																																		ARHGAP9_uc001snz.2_5'Flank|ARHGAP9_uc001soa.2_5'Flank|ARHGAP9_uc001sob.2_Missense_Mutation_p.P70S|ARHGAP9_uc001soc.2_Missense_Mutation_p.P70S|ARHGAP9_uc001soe.1_Missense_Mutation_p.P149S|ARHGAP9_uc010sro.1_Missense_Mutation_p.P70S	1	1		benign(0.161)	p.P141S	NM_032496	NP_115885		tolerated(0.33)	1	RHG09_HUMAN	ARHGAP9	HGNC	Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		F8VW89_HUMAN,F8VSD0_HUMAN,F8VR90_HUMAN,F8VQY5_HUMAN		5	614	-			UPI000007131B	70			SH3.		SNV	ARHGAP9,missense_variant,p.Pro141Ser,ENST00000393797,;ARHGAP9,missense_variant,p.Pro149Ser,ENST00000550288,;ARHGAP9,missense_variant,p.Pro70Ser,ENST00000356411,;ARHGAP9,missense_variant,p.Pro70Ser,ENST00000393791,NM_032496.2;ARHGAP9,missense_variant,p.Pro70Ser,ENST00000424809,NM_001080157.1;ARHGAP9,intron_variant,,ENST00000552249,;ARHGAP9,upstream_gene_variant,,ENST00000430041,NM_001080156.1;ARHGAP9,upstream_gene_variant,,ENST00000548139,;ARHGAP9,upstream_gene_variant,,ENST00000550399,;ARHGAP9,upstream_gene_variant,,ENST00000552066,;ARHGAP9,upstream_gene_variant,,ENST00000552604,;ARHGAP9,upstream_gene_variant,,ENST00000549602,;ARHGAP9,upstream_gene_variant,,ENST00000551452,;ARHGAP9,upstream_gene_variant,,ENST00000550130,;MARS,intron_variant,,ENST00000549133,;ARHGAP9,upstream_gene_variant,,ENST00000550454,;ARHGAP9,upstream_gene_variant,,ENST00000547200,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000552420,;ARHGAP9,upstream_gene_variant,,ENST00000546200,;ARHGAP9,upstream_gene_variant,,ENST00000552953,;ARHGAP9,upstream_gene_variant,,ENST00000548148,;ARHGAP9,upstream_gene_variant,,ENST00000550440,;ARHGAP9,upstream_gene_variant,,ENST00000547216,;ARHGAP9,upstream_gene_variant,,ENST00000546704,;ARHGAP9,upstream_gene_variant,,ENST00000551000,;ARHGAP9,upstream_gene_variant,,ENST00000551574,;	uc001sod.2	c.421C>T	347/2597	2	2			c.421C>T						12	SNP	c.(421-423)CCC>TCC	45	45			lung(1)	1	Broad	Rho GTPase activating protein 9 isoform 1			57872982		0.567	ENSG00000123329	871	g.chr12:57872982G>A	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding							207.168563	KEEP	45	42	-1	68	71	45	42	-1	209.722653	68	71	0.378788	1	0	0	0	0	1	0	0	0	--	--		0	A			ARHGAP9_uc001snz.2_5'Flank|ARHGAP9_uc001soa.2_5'Flank|ARHGAP9_uc001sob.2_Missense_Mutation_p.P70S|ARHGAP9_uc001soc.2_Missense_Mutation_p.P70S|ARHGAP9_uc001soe.1_Missense_Mutation_p.P149S|ARHGAP9_uc010sro.1_Missense_Mutation_p.P70S	40	GBM-06-0185-TP	p.P141S	G	GAGGTGGAGGGAGCTTCTAGG	NM_032496	NP_115885	57872982	Q9BRR9	RHG09_HUMAN	0	GBM - Glioblastoma multiforme(3;3.37e-34)		5	614	-	A	A			Missense_Mutation	70			SH3.			
ARHGAP9	64333	broad.mit.edu	GRCh37	12	57868660	57868660	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393791.3:c.1649G>A	p.Arg550Lys	p.R550K	ENST00000393791	NM_032496.2	550	aGa/aAa	0			1			T	R/K	uc001sod.2	protein_coding	YES	CCDS8941.2			1649/2196									lung(1)	1	c.(1918-1920)AGA>AAA			PROSITE_profiles:PS50238,hmmpanther:PTHR23181,hmmpanther:PTHR23181:SF4,Pfam_domain:PF00620,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350	Rho GTPase activating protein 9 isoform 1				ENSP00000377380		13/18									COSM2151509	13/18	.		ENST00000393791	Transcript			regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	ENSG00000123329	g.chr12:57868660C>T	14130			MODERATE		0.73	neutral	getma.org/?cm=msa&ty=f&p=RHG09_HUMAN&rb=556&re=726&var=R569K	getma.org/pdb.php?prot=RHG09_HUMAN&from=556&to=726&var=R569K	getma.org/?cm=var&var=hg19,12,57868660,C,T&fts=all	R569K	--	--	1																																		ARHGAP9_uc001sny.2_RNA|ARHGAP9_uc001snz.2_Missense_Mutation_p.R366K|ARHGAP9_uc001soa.2_Missense_Mutation_p.R239K|ARHGAP9_uc001sob.2_Missense_Mutation_p.R550K|ARHGAP9_uc001soc.2_Missense_Mutation_p.R550K|ARHGAP9_uc001soe.1_Missense_Mutation_p.R629K	1	1		benign(0.23)	p.R640K	NM_032496	NP_115885		tolerated(0.14)	1	RHG09_HUMAN	ARHGAP9	HGNC	Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		F8VW89_HUMAN,F8VSD0_HUMAN,F8VR90_HUMAN,F8VQY5_HUMAN		16	2112	-			UPI000007131B	569			Rho-GAP.		SNV	ARHGAP9,missense_variant,p.Arg640Lys,ENST00000393797,;ARHGAP9,missense_variant,p.Arg629Lys,ENST00000550288,;ARHGAP9,missense_variant,p.Arg569Lys,ENST00000356411,;ARHGAP9,missense_variant,p.Arg550Lys,ENST00000393791,NM_032496.2;ARHGAP9,missense_variant,p.Arg550Lys,ENST00000424809,NM_001080157.1;ARHGAP9,missense_variant,p.Arg366Lys,ENST00000430041,NM_001080156.1;ARHGAP9,missense_variant,p.Arg20Lys,ENST00000550399,;ARHGAP9,missense_variant,p.Arg57Lys,ENST00000550130,;GLI1,downstream_gene_variant,,ENST00000228682,NM_005269.2;GLI1,downstream_gene_variant,,ENST00000546141,NM_001167609.1;GLI1,downstream_gene_variant,,ENST00000543426,NM_001160045.1;GLI1,downstream_gene_variant,,ENST00000528467,;ARHGAP9,downstream_gene_variant,,ENST00000548139,;ARHGAP9,downstream_gene_variant,,ENST00000552066,;ARHGAP9,downstream_gene_variant,,ENST00000552249,;ARHGAP9,downstream_gene_variant,,ENST00000552604,;ARHGAP9,downstream_gene_variant,,ENST00000549602,;ARHGAP9,downstream_gene_variant,,ENST00000551452,;ARHGAP9,downstream_gene_variant,,ENST00000550454,;MARS,upstream_gene_variant,,ENST00000549133,;ARHGAP9,downstream_gene_variant,,ENST00000547200,;ARHGAP9,splice_region_variant,,ENST00000546200,;ARHGAP9,splice_region_variant,,ENST00000552953,;ARHGAP9,splice_region_variant,,ENST00000550440,;ARHGAP9,splice_region_variant,,ENST00000546704,;ARHGAP9,downstream_gene_variant,,ENST00000552420,;ARHGAP9,downstream_gene_variant,,ENST00000548148,;ARHGAP9,downstream_gene_variant,,ENST00000547216,;ARHGAP9,downstream_gene_variant,,ENST00000551000,;ARHGAP9,downstream_gene_variant,,ENST00000551574,;	uc001sod.2	c.1919G>A	1788/2597	1	1			c.1919G>A						12	SNP	c.(1918-1920)AGA>AAA	14	14			lung(1)	1	Broad	Rho GTPase activating protein 9 isoform 1			57868660		0.527	ENSG00000123329	871	g.chr12:57868660C>T	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding							123.353531	KEEP	24	22	-1	23	24	24	22	-1	123.362852	23	24	0.511364	1	0	0	0	0	1	0	0	0	--	--		0	T			ARHGAP9_uc001sny.2_RNA|ARHGAP9_uc001snz.2_Missense_Mutation_p.R366K|ARHGAP9_uc001soa.2_Missense_Mutation_p.R239K|ARHGAP9_uc001sob.2_Missense_Mutation_p.R550K|ARHGAP9_uc001soc.2_Missense_Mutation_p.R550K|ARHGAP9_uc001soe.1_Missense_Mutation_p.R629K	62	GBM-06-0649-TP	p.R640K	C	AAAATGACCTCTTTTATCCAC	NM_032496	NP_115885	57868660	Q9BRR9	RHG09_HUMAN	0	GBM - Glioblastoma multiforme(3;3.37e-34)		16	2112	-	T	T			Missense_Mutation	569			Rho-GAP.			
ARHGEF10	9639	broad.mit.edu	GRCh37	8	1808147	1808147	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0686-01	TCGA-06-0686-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000349830.3:c.278C>T	p.Ser93Phe	p.S93F	ENST00000349830	NM_014629.2	93	tCt/tTt	0			1			T	S/F	uc003wpr.2	protein_coding					350/4110									large_intestine(1)	1	c.(277-279)TCT>TTT			hmmpanther:PTHR12877,hmmpanther:PTHR12877:SF14	Rho guanine nucleotide exchange factor 10				ENSP00000381571		29-Apr									COSM3412900,COSM3412899	29-Apr	.		ENST00000398564	Transcript	1		centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	ENSG00000104728	g.chr8:1808147C>T	14103			MODERATE		1.955	medium	getma.org/?cm=msa&ty=f&p=ARHGA_HUMAN&rb=23&re=238&var=S117F	NA	getma.org/?cm=var&var=hg19,8,1808147,C,T&fts=all	S117F	--	--	1																																		ARHGEF10_uc003wpq.1_Missense_Mutation_p.S117F|ARHGEF10_uc003wps.2_Missense_Mutation_p.S93F|ARHGEF10_uc003wpt.2_Missense_Mutation_p.S7F|ARHGEF10_uc010lrd.1_Missense_Mutation_p.S7F|ARHGEF10_uc003wpu.2_Missense_Mutation_p.S7F	1,1			probably_damaging(0.999)	p.S93F	NM_014629	NP_055444		deleterious_low_confidence(0)	1,1	ARHGA_HUMAN	ARHGEF10	HGNC	O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)			4	456	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	UPI0000D89824	117					SNV	ARHGEF10,missense_variant,p.Ser117Phe,ENST00000518288,;ARHGEF10,missense_variant,p.Ser93Phe,ENST00000349830,NM_014629.2;ARHGEF10,missense_variant,p.Ser117Phe,ENST00000398564,;ARHGEF10,missense_variant,p.Ser93Phe,ENST00000520359,;ARHGEF10,missense_variant,p.Ser117Phe,ENST00000262112,;ARHGEF10,missense_variant,p.Ser117Phe,ENST00000398560,;ARHGEF10,non_coding_transcript_exon_variant,,ENST00000382795,;ARHGEF10,non_coding_transcript_exon_variant,,ENST00000522969,;ARHGEF10,non_coding_transcript_exon_variant,,ENST00000520972,;	uc003wpr.2	c.278C>T	350/5480	2	2			c.278C>T						8	SNP	c.(277-279)TCT>TTT	33	33			large_intestine(1)	1	Broad	Rho guanine nucleotide exchange factor 10			1808147		0.597	ENSG00000104728	876	g.chr8:1808147C>T	centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			2844			2844	-32.072634	KEEP	2	4	-1	98	75	2	4	-1	9.0141	98	75	0.029586	1	0	0	0	0	1	0	0	0	--	--		0	T			ARHGEF10_uc003wpq.1_Missense_Mutation_p.S117F|ARHGEF10_uc003wps.2_Missense_Mutation_p.S93F|ARHGEF10_uc003wpt.2_Missense_Mutation_p.S7F|ARHGEF10_uc010lrd.1_Missense_Mutation_p.S7F|ARHGEF10_uc003wpu.2_Missense_Mutation_p.S7F	64	GBM-06-0686-TP	p.S93F	C	AACCCATATTCTGTCATCGAC	NM_014629	NP_055444	1808147	O15013	ARHGA_HUMAN	0		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	4	456	+	T	T		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	Missense_Mutation	117						
ARHGEF10	9639	broad.mit.edu	GRCh37	8	1871955	1871955	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2558-01	TCGA-06-2558-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000349830.3:c.2403G>A	p.Thr801=	p.T801=	ENST00000349830	NM_014629.2	801	acG/acA	0		A:0	1	A:0		A	T	uc003wpr.2	protein_coding					2478/4110									large_intestine(1)	1	c.(2401-2403)ACG>ACA			hmmpanther:PTHR12877,hmmpanther:PTHR12877:SF14,Superfamily_domains:SSF50729	Rho guanine nucleotide exchange factor 10		A:0		ENSP00000381571	A:0	21/29	0.000964						0.00441	0.00684	rs528316967,COSM3412906,COSM3412905	21/29	common_variant		ENST00000398564	Transcript	1	A:0.0018	centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	ENSG00000104728	g.chr8:1871955G>A	14103			LOW								--	--	1																																		ARHGEF10_uc003wpq.1_Silent_p.T825T|ARHGEF10_uc003wps.2_Silent_p.T763T|ARHGEF10_uc003wpv.2_Silent_p.T534T|ARHGEF10_uc010lre.2_Silent_p.T481T	0,1,1				p.T801T	NM_014629	NP_055444	A:0.0092		0,1,1	ARHGA_HUMAN	ARHGEF10	HGNC	O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)			21	2581	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	UPI0000D89824	826					SNV	ARHGEF10,synonymous_variant,p.=,ENST00000518288,;ARHGEF10,synonymous_variant,p.=,ENST00000349830,NM_014629.2;ARHGEF10,synonymous_variant,p.=,ENST00000398564,;ARHGEF10,synonymous_variant,p.=,ENST00000520359,;ARHGEF10,synonymous_variant,p.=,ENST00000262112,;ARHGEF10,synonymous_variant,p.=,ENST00000522435,;ARHGEF10,downstream_gene_variant,,ENST00000524212,;ARHGEF10,non_coding_transcript_exon_variant,,ENST00000523711,;ARHGEF10,non_coding_transcript_exon_variant,,ENST00000519641,;	uc003wpr.2	c.2403G>A	2478/5480	2	2			c.2403G>A						8	SNP	c.(2401-2403)ACG>ACA	36	36			large_intestine(1)	1	Broad	Rho guanine nucleotide exchange factor 10			1871955		0.488	ENSG00000104728	876	g.chr8:1871955G>A	centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			2844			2844	-24.569092	KEEP	1	7	-1	92	89	1	7	-1	11.611938	92	89	0.038217	1	0	0	0	0	0	0	1	0	--	--		0	A			ARHGEF10_uc003wpq.1_Silent_p.T825T|ARHGEF10_uc003wps.2_Silent_p.T763T|ARHGEF10_uc003wpv.2_Silent_p.T534T|ARHGEF10_uc010lre.2_Silent_p.T481T	82	GBM-06-2558-TP	p.T801T	G	GGCGACCGACGTTCTTTACAG	NM_014629	NP_055444	1871955	O15013	ARHGA_HUMAN	0		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	21	2581	+	A	A		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	Silent	826						
ARHGEF10	9639	broad.mit.edu	GRCh37	8	1871717	1871717	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2559-01	TCGA-06-2559-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000349830.3:c.2343G>A	p.Ala781=	p.A781=	ENST00000349830	NM_014629.2	781	gcG/gcA	0			1			A	A	uc003wpr.2	protein_coding					2418/4110									large_intestine(1)	1	c.(2341-2343)GCG>GCA			hmmpanther:PTHR12877,hmmpanther:PTHR12877:SF14	Rho guanine nucleotide exchange factor 10				ENSP00000381571		20/29									COSM1097729,COSM1097728	20/29	.		ENST00000398564	Transcript	1		centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	ENSG00000104728	g.chr8:1871717G>A	14103			LOW								--	--	1																																		ARHGEF10_uc003wpq.1_Silent_p.A805A|ARHGEF10_uc003wps.2_Silent_p.A743A|ARHGEF10_uc003wpv.2_Silent_p.A514A|ARHGEF10_uc010lre.2_Silent_p.A461A	1,1				p.A781A	NM_014629	NP_055444			1,1	ARHGA_HUMAN	ARHGEF10	HGNC	O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)			20	2521	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	UPI0000D89824	806					SNV	ARHGEF10,synonymous_variant,p.=,ENST00000518288,;ARHGEF10,synonymous_variant,p.=,ENST00000349830,NM_014629.2;ARHGEF10,synonymous_variant,p.=,ENST00000398564,;ARHGEF10,synonymous_variant,p.=,ENST00000520359,;ARHGEF10,synonymous_variant,p.=,ENST00000262112,;ARHGEF10,synonymous_variant,p.=,ENST00000522435,;ARHGEF10,downstream_gene_variant,,ENST00000524212,;ARHGEF10,non_coding_transcript_exon_variant,,ENST00000523711,;ARHGEF10,non_coding_transcript_exon_variant,,ENST00000519641,;	uc003wpr.2	c.2343G>A	2418/5480	1	1			c.2343G>A						8	SNP	c.(2341-2343)GCG>GCA	56	56			large_intestine(1)	1	Broad	Rho guanine nucleotide exchange factor 10			1871717		0.418	ENSG00000104728	876	g.chr8:1871717G>A	centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			2844			2844	-32.835502	KEEP	4	0	-1	83	86	4	0	-1	7.485082	83	86	0.024845	1	0	0	0	0	0	0	1	0	--	--		0	A			ARHGEF10_uc003wpq.1_Silent_p.A805A|ARHGEF10_uc003wps.2_Silent_p.A743A|ARHGEF10_uc003wpv.2_Silent_p.A514A|ARHGEF10_uc010lre.2_Silent_p.A461A	83	GBM-06-2559-TP	p.A781A	G	TCAGAGCTGCGGACTGCTGCA	NM_014629	NP_055444	1871717	O15013	ARHGA_HUMAN	0		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	20	2521	+	A	A		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	Silent	806						
ARHGEF10	0	broad.mit.edu	GRCh37	8	1871746	1871746	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01	TCGA-41-4097-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398564.1:c.2447C>T	p.Pro816Leu	p.P816L	ENST00000398564		816	cCc/cTc	0			1			T	P/L	uc003wpr.2	protein_coding					2447/4110									large_intestine(1)	1	c.(2371-2373)CCC>CTC			hmmpanther:PTHR12877,hmmpanther:PTHR12877:SF14,Superfamily_domains:SSF50729	Rho guanine nucleotide exchange factor 10				ENSP00000381571		20/29									COSM3412904,COSM3412903	20/29	.		ENST00000398564	Transcript	1		centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	ENSG00000104728	g.chr8:1871746C>T	14103			MODERATE		2.925	medium	getma.org/?cm=msa&ty=f&p=ARHGA_HUMAN&rb=808&re=1007&var=P816L	NA	getma.org/?cm=var&var=hg19,8,1871746,C,T&fts=all	P816L	--	--	1																																		ARHGEF10_uc003wpq.1_Missense_Mutation_p.P815L|ARHGEF10_uc003wps.2_Missense_Mutation_p.P753L|ARHGEF10_uc003wpv.2_Missense_Mutation_p.P524L|ARHGEF10_uc010lre.2_Missense_Mutation_p.P471L	1,1			probably_damaging(0.928)	p.P791L	NM_014629	NP_055444		deleterious(0.04)	1,1	ARHGA_HUMAN	ARHGEF10	HGNC	O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)			20	2550	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	UPI0000D89824	816					SNV	ARHGEF10,missense_variant,p.Pro815Leu,ENST00000518288,;ARHGEF10,missense_variant,p.Pro791Leu,ENST00000349830,NM_014629.2;ARHGEF10,missense_variant,p.Pro816Leu,ENST00000398564,;ARHGEF10,missense_variant,p.Pro753Leu,ENST00000520359,;ARHGEF10,missense_variant,p.Pro816Leu,ENST00000262112,;ARHGEF10,missense_variant,p.Pro464Leu,ENST00000522435,;ARHGEF10,downstream_gene_variant,,ENST00000524212,;ARHGEF10,non_coding_transcript_exon_variant,,ENST00000523711,;ARHGEF10,non_coding_transcript_exon_variant,,ENST00000519641,;	uc003wpr.2	c.2372C>T	2447/5480	1	1			c.2372C>T						8	SNP	c.(2371-2373)CCC>CTC	12	12			large_intestine(1)	1	Broad	Rho guanine nucleotide exchange factor 10			1871746		0.423	ENSG00000104728	876	g.chr8:1871746C>T	centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			2844			2844	78.605144	KEEP	19	22	-1	82	95	19	22	-1	96.173055	82	95	0.185185	1	0	0	0	0	1	0	0	0	--	--		0	T			ARHGEF10_uc003wpq.1_Missense_Mutation_p.P815L|ARHGEF10_uc003wps.2_Missense_Mutation_p.P753L|ARHGEF10_uc003wpv.2_Missense_Mutation_p.P524L|ARHGEF10_uc010lre.2_Missense_Mutation_p.P471L	257	GBM-41-4097-TP	p.P791L	C	TTACAGCTTCCCGGGAAGCAG	NM_014629	NP_055444	1871746	O15013	ARHGA_HUMAN	0		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	20	2550	+	T	T		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	Missense_Mutation	816						
ARHGEF10L	55160	broad.mit.edu	GRCh37	1	17990973	17990973	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0749-01	TCGA-06-0749-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361221.3:c.2892C>T	p.Pro964=	p.P964=	ENST00000361221	NM_018125.3	964	ccC/ccT	0			1			T	P	uc001ban.2	protein_coding	YES	CCDS182.1			2892/3840									large_intestine(1)|ovary(1)|pancreas(1)	3	c.(2890-2892)CCC>CCT			Gene3D:2.130.10.10,hmmpanther:PTHR12877,hmmpanther:PTHR12877:SF16,Superfamily_domains:SSF50978	Rho guanine nucleotide exchange factor (GEF)				ENSP00000355060		26/29	8.24E-06	0.000104							rs749642671,COSM2151905,COSM2151904,COSM2151906	26/29	.		ENST00000361221	Transcript			regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	ENSG00000074964	g.chr1:17990973C>T	25540			LOW								--	--	1																																		ARHGEF10L_uc009vpe.1_Silent_p.P925P|ARHGEF10L_uc001bao.2_Silent_p.P925P|ARHGEF10L_uc001bap.2_Silent_p.P920P|ARHGEF10L_uc001baq.2_Silent_p.P725P|ARHGEF10L_uc010ocs.1_Silent_p.P737P|ARHGEF10L_uc001bar.2_Silent_p.P667P|ARHGEF10L_uc009vpf.2_RNA	0,1,1,1	1			p.P964P	NM_018125	NP_060595			0,1,1,1	ARGAL_HUMAN	ARHGEF10L	HGNC	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)			26	3051	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	UPI00003664EA	964					SNV	ARHGEF10L,synonymous_variant,p.=,ENST00000361221,NM_018125.3;ARHGEF10L,synonymous_variant,p.=,ENST00000452522,;ARHGEF10L,synonymous_variant,p.=,ENST00000375415,NM_001011722.2;ARHGEF10L,synonymous_variant,p.=,ENST00000375408,;ARHGEF10L,synonymous_variant,p.=,ENST00000167825,;ARHGEF10L,synonymous_variant,p.=,ENST00000434513,;ARHGEF10L,non_coding_transcript_exon_variant,,ENST00000469726,;ARHGEF10L,non_coding_transcript_exon_variant,,ENST00000475356,;	uc001ban.2	c.2892C>T	3051/4488	2	2			c.2892C>T						1	SNP	c.(2890-2892)CCC>CCT	22	22			large_intestine(1)|ovary(1)|pancreas(1)	3	Broad	Rho guanine nucleotide exchange factor (GEF)			17990973		0.692	ENSG00000074964	877	g.chr1:17990973C>T	regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity							21.186157	KEEP	3	5	-1	12	17	3	5	-1	23.003043	12	17	0.25	1	0	0	0	0	0	0	1	0	--	--		0	T			ARHGEF10L_uc009vpe.1_Silent_p.P925P|ARHGEF10L_uc001bao.2_Silent_p.P925P|ARHGEF10L_uc001bap.2_Silent_p.P920P|ARHGEF10L_uc001baq.2_Silent_p.P725P|ARHGEF10L_uc010ocs.1_Silent_p.P737P|ARHGEF10L_uc001bar.2_Silent_p.P667P|ARHGEF10L_uc009vpf.2_RNA	69	GBM-06-0749-TP	p.P964P	C	AGAGCCCTCCCGTGTGCCTGA	NM_018125	NP_060595	17990973	Q9HCE6	ARGAL_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	26	3051	+	T	T		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	Silent	964						
ARHGEF11	9826		GRCh37	1	156917716	156917716	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000368194.3:c.2186C>T	p.Thr729Ile	p.T729I	ENST00000368194	NM_198236.2	729	aCa/aTa	0																																																																																																																																																																																																																																												
ARHGEF12	0	broad.mit.edu	GRCh37	11	120352059	120352059	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6698-01	TCGA-06-6698-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397843.2:c.4328C>T	p.Thr1443Ile	p.T1443I	ENST00000397843	NM_015313.2	1443	aCa/aTa	0			1			T	T/I	uc001pxl.1	protein_coding	YES	CCDS41727.1			4328/4635	T		MLL		AML				lung(2)|breast(2)|skin(2)|ovary(1)	7	c.(4327-4329)ACA>ATA			hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF8	Rho guanine nucleotide exchange factor (GEF) 12				ENSP00000380942		39/41									COSM3397479	39/41	.		ENST00000397843	Transcript			apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	ENSG00000196914	g.chr11:120352059C>T	14193			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=ARHGC_HUMAN&rb=1377&re=1544&var=T1443I	NA	getma.org/?cm=var&var=hg19,11,120352059,C,T&fts=all	T1443I	--	--	1																																		ARHGEF12_uc009zau.1_Missense_Mutation_p.T1340I	1	1		benign(0.025)	p.T1443I	NM_015313	NP_056128		deleterious_low_confidence(0.02)	1	ARHGC_HUMAN	ARHGEF12	HGNC	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	E9PMR6_HUMAN		39	4335	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	UPI00000708ED	1443					SNV	ARHGEF12,missense_variant,p.Thr1443Ile,ENST00000397843,NM_015313.2;ARHGEF12,missense_variant,p.Thr1424Ile,ENST00000356641,NM_001198665.1;ARHGEF12,missense_variant,p.Thr1340Ile,ENST00000532993,;ARHGEF12,downstream_gene_variant,,ENST00000529970,;ARHGEF12,downstream_gene_variant,,ENST00000526067,;ARHGEF12,downstream_gene_variant,,ENST00000528681,;	uc001pxl.1	c.4328C>T	4494/9660	2	2			c.4328C>T	T		MLL		AML	11	SNP	c.(4327-4329)ACA>ATA	47	47			lung(2)|breast(2)|skin(2)|ovary(1)	7	Broad	Rho guanine nucleotide exchange factor (GEF) 12			120352059		0.512	ENSG00000196914	879	g.chr11:120352059C>T	apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			1000			1000	0.86182	KEEP	2	7	-1	33	43	2	7	-1	13.861439	33	43	0.090909	1	0	0	0	0	1	0	0	0	--	--		0	T			ARHGEF12_uc009zau.1_Missense_Mutation_p.T1340I	112	GBM-06-6698-TP	p.T1443I	C	CAGCCCATGACAGGCATCCCT	NM_015313	NP_056128	120352059	Q9NZN5	ARHGC_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	39	4335	+	T	T		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	Missense_Mutation	1443						
ARHGEF15	0	broad.mit.edu	GRCh37	17	8219094	8219094	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2495-01	TCGA-32-2495-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361926.3:c.1443C>T	p.Ser481=	p.S481=	ENST00000361926	NM_173728.3	481	tcC/tcT	0			1			T	S	uc002glc.2	protein_coding	YES	CCDS11139.1			1443/2526									ovary(2)|skin(1)	3	c.(1441-1443)TCC>TCT			Gene3D:1.20.900.10,Pfam_domain:PF00621,PROSITE_profiles:PS50010,hmmpanther:PTHR12845,hmmpanther:PTHR12845:SF7,SMART_domains:SM00325,Superfamily_domains:SSF48065	Rho guanine exchange factor 15				ENSP00000355026		16-Aug									COSM3403403	16-Aug	.		ENST00000361926	Transcript			negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	ENSG00000198844	g.chr17:8219094C>T	15590			LOW								--	--	1																																		ARHGEF15_uc002gld.2_Silent_p.S481S|ARHGEF15_uc010vuw.1_Silent_p.S370S	1	1			p.S481S	NM_173728	NP_776089			1	ARHGF_HUMAN	ARHGEF15	HGNC	O94989	ARHGF_HUMAN			J3QS60_HUMAN,J3KT46_HUMAN		8	1564	+			UPI000013D2C0	481			DH.		SNV	ARHGEF15,synonymous_variant,p.=,ENST00000361926,NM_173728.3;ARHGEF15,synonymous_variant,p.=,ENST00000421050,NM_025014.1;ARHGEF15,downstream_gene_variant,,ENST00000579439,;ARHGEF15,downstream_gene_variant,,ENST00000583529,;AC135178.7,downstream_gene_variant,,ENST00000458568,;ARHGEF15,upstream_gene_variant,,ENST00000582060,;ARHGEF15,downstream_gene_variant,,ENST00000455564,;ARHGEF15,downstream_gene_variant,,ENST00000581809,;ARHGEF15,downstream_gene_variant,,ENST00000578286,;	uc002glc.2	c.1443C>T	1553/4154	1	1			c.1443C>T						17	SNP	c.(1441-1443)TCC>TCT	8	8			ovary(2)|skin(1)	3	Broad	Rho guanine exchange factor 15			8219094		0.582	ENSG00000198844	880	g.chr17:8219094C>T	negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity							-10.930745	KEEP	2	1	-1	41	53	2	1	-1	7.012287	41	53	0.038462	1	0	0	0	0	0	0	1	0	--	--		0	T			ARHGEF15_uc002gld.2_Silent_p.S481S|ARHGEF15_uc010vuw.1_Silent_p.S370S	237	GBM-32-2495-TP	p.S481S	C	CGCTCCTGTCCCGTGTGCGCT	NM_173728	NP_776089	8219094	O94989	ARHGF_HUMAN	0			8	1564	+	T	T			Silent	481			DH.			
ARHGEF16	0	broad.mit.edu	GRCh37	1	3395016	3395016	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378378.4:c.1654G>A	p.Ala552Thr	p.A552T	ENST00000378378	NM_014448.3	552	Gcc/Acc	0	A:0.0005	A:0.0038	1	A:0		A	A/T	uc001akg.3	protein_coding	YES	CCDS46.2			1654/2130									ovary(1)	1	c.(1654-1656)GCC>ACC			PROSITE_profiles:PS50003,hmmpanther:PTHR12845,hmmpanther:PTHR12845:SF3,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	Rho guanine exchange factor 16		A:0	A:0	ENSP00000367629	A:0	15-Dec	6.64E-05	0.000691				1.56E-05			rs201826500,COSM2078840,COSM2078839,COSM2078841	15-Dec	common_variant		ENST00000378378	Transcript		A:0.0010	activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity	ENSG00000130762	g.chr1:3395016G>A	15515			MODERATE		2.89	medium	getma.org/?cm=msa&ty=f&p=ARHGG_HUMAN&rb=498&re=620&var=A552T	NA	getma.org/?cm=var&var=hg19,1,3395016,G,A&fts=all	A552T	--	--	1																																		ARHGEF16_uc001aki.2_Missense_Mutation_p.A264T|ARHGEF16_uc001akj.2_Missense_Mutation_p.A264T|ARHGEF16_uc010nzh.1_Missense_Mutation_p.A256T	0,1,1,1	1		possibly_damaging(0.647)	p.A552T	NM_014448	NP_055263	A:0	deleterious(0.01)	0,1,1,1	ARHGG_HUMAN	ARHGEF16	HGNC	Q5VV41	ARHGG_HUMAN		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	B0QZD3_HUMAN		12	1902	+	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)	UPI00002039A3	552			PH.		SNV	ARHGEF16,missense_variant,p.Ala552Thr,ENST00000378378,NM_014448.3;ARHGEF16,missense_variant,p.Ala264Thr,ENST00000378371,;ARHGEF16,missense_variant,p.Ala264Thr,ENST00000378373,;ARHGEF16,missense_variant,p.Ala256Thr,ENST00000413250,;ARHGEF16,downstream_gene_variant,,ENST00000445297,;ARHGEF16,downstream_gene_variant,,ENST00000418137,;ARHGEF16,non_coding_transcript_exon_variant,,ENST00000485984,;ARHGEF16,downstream_gene_variant,,ENST00000464620,;	uc001akg.3	c.1654G>A	2059/3061	2	2			c.1654G>A						1	SNP	c.(1654-1656)GCC>ACC	33	33			ovary(1)	1	Broad	Rho guanine exchange factor 16			3395016		0.657	ENSG00000130762	881	g.chr1:3395016G>A	activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity							170.119503	KEEP	33	42	-1	85	78	33	42	-1	176.422824	85	78	0.313725	1	0	0	0	0	1	0	0	0	--	--		0	A			ARHGEF16_uc001aki.2_Missense_Mutation_p.A264T|ARHGEF16_uc001akj.2_Missense_Mutation_p.A264T|ARHGEF16_uc010nzh.1_Missense_Mutation_p.A256T	139	GBM-14-0817-TP	p.A552T	G	CCAGGACTACGCCCAGATGAA	NM_014448	NP_055263	3395016	Q5VV41	ARHGG_HUMAN	0		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	12	1902	+	A	A	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)	Missense_Mutation	552			PH.			
ARHGEF17	0	broad.mit.edu	GRCh37	11	73073628	73073628	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263674.3:c.4845G>A	p.Ser1615=	p.S1615=	ENST00000263674	NM_014786.3	1615	tcG/tcA	0			1			A	S	uc001otu.2	protein_coding	YES	CCDS8221.1			4845/6192										0	c.(4843-4845)TCG>TCA			hmmpanther:PTHR12877:SF15,hmmpanther:PTHR12877	Rho guanine nucleotide exchange factor (GEF) 17				ENSP00000263674		14/21									COSM2154825	14/21	.		ENST00000263674	Transcript			actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	ENSG00000110237	g.chr11:73073628G>A	21726			LOW								--	--	1																																			1	1			p.S1615S	NM_014786	NP_055601			1	ARHGH_HUMAN	ARHGEF17	HGNC	Q96PE2	ARHGH_HUMAN					14	4866	+			UPI000004980B	1615					SNV	ARHGEF17,synonymous_variant,p.=,ENST00000263674,NM_014786.3;ARHGEF17,upstream_gene_variant,,ENST00000543530,;ARHGEF17,upstream_gene_variant,,ENST00000536481,;	uc001otu.2	c.4845G>A	5195/7853	2	2			c.4845G>A						11	SNP	c.(4843-4845)TCG>TCA	26	26				0	Broad	Rho guanine nucleotide exchange factor (GEF) 17			73073628		0.706	ENSG00000110237	882	g.chr11:73073628G>A	actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity							27.875525	KEEP	6	5	-1	8	9	6	5	-1	27.968021	8	9	0.428571	1	0	0	0	0	0	0	1	0	--	--		0	A				139	GBM-14-0817-TP	p.S1615S	G	TTGCAGGCTCGGGCTTGGAGA	NM_014786	NP_055601	73073628	Q96PE2	ARHGH_HUMAN	0			14	4866	+	A	A			Silent	1615						
ARHGEF17	0	broad.mit.edu	GRCh37	11	73076830	73076830	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-32-4213-01	TCGA-32-4213-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263674.3:c.5833A>T	p.Thr1945Ser	p.T1945S	ENST00000263674	NM_014786.3	1945	Acc/Tcc	0			1			T	T/S	uc001otu.2	protein_coding	YES	CCDS8221.1			5833/6192										0	c.(5833-5835)ACC>TCC			hmmpanther:PTHR12877:SF15,hmmpanther:PTHR12877,Superfamily_domains:SSF50978	Rho guanine nucleotide exchange factor (GEF) 17				ENSP00000263674		20/21									COSM3398124	20/21	.		ENST00000263674	Transcript			actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	ENSG00000110237	g.chr11:73076830A>T	21726			MODERATE		1.965	medium	getma.org/?cm=msa&ty=f&p=ARHGH_HUMAN&rb=1939&re=2063&var=T1945S	NA	getma.org/?cm=var&var=hg19,11,73076830,A,T&fts=all	T1945S	--	--	1																																			1	1		possibly_damaging(0.482)	p.T1945S	NM_014786	NP_055601		deleterious(0.03)	1	ARHGH_HUMAN	ARHGEF17	HGNC	Q96PE2	ARHGH_HUMAN					20	5854	+			UPI000004980B	1945					SNV	ARHGEF17,missense_variant,p.Thr1945Ser,ENST00000263674,NM_014786.3;ARHGEF17,non_coding_transcript_exon_variant,,ENST00000543530,;ARHGEF17,downstream_gene_variant,,ENST00000536481,;	uc001otu.2	c.5833A>T	6183/7853	2	2			c.5833A>T						11	SNP	c.(5833-5835)ACC>TCC	45	45				0	Broad	Rho guanine nucleotide exchange factor (GEF) 17			73076830		0.657	ENSG00000110237	882	g.chr11:73076830A>T	actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity							39.840322	KEEP	13	6	-1	30	30	13	6	-1	43.883076	30	30	0.246377	1	0	0	0	0	1	0	0	0	--	--		0	T				247	GBM-32-4213-TP	p.T1945S	A	TGTCGTCCTCACCATGCCCAC	NM_014786	NP_055601	73076830	Q96PE2	ARHGH_HUMAN	0			20	5854	+	T	T			Missense_Mutation	1945						
ARHGEF17	9828		GRCh37	11	73020926	73020926	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000263674.3:c.1243G>A	p.Val415Met	p.V415M	ENST00000263674	NM_014786.3	415	Gtg/Atg	0																																																																																																																																																																																																																																												
ARHGEF18	0	broad.mit.edu	GRCh37	19	7531967	7531967	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs150543189		TCGA-12-0618-01	TCGA-12-0618-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359920.6:c.2408G>A	p.Arg803Gln	p.R803Q	ENST00000359920	NM_001130955.1	803	cGg/cAg	0	A:0		1			A	R/Q	uc002mgi.2	protein_coding	YES	CCDS45946.1			2408/3522									ovary(1)	1	c.(2407-2409)CGG>CAG			hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF9	Rho/Rac guanine nucleotide exchange factor 18			A:0.0001	ENSP00000352995		15/20	1.65E-05	9.71E-05				1.53E-05			rs150543189,COSM2153610,COSM2153609	15/20	.		ENST00000359920	Transcript			actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	ENSG00000104880	g.chr19:7531967G>A	17090			MODERATE		2.075	medium	getma.org/?cm=msa&ty=f&p=ARHGI_HUMAN&rb=799&re=840&var=R803Q	NA	getma.org/?cm=var&var=hg19,19,7531967,G,A&fts=all	R803Q	--	--	1																																		ARHGEF18_uc010xjm.1_Missense_Mutation_p.R645Q|ARHGEF18_uc002mgh.2_Missense_Mutation_p.R645Q|ARHGEF18_uc002mgj.1_Missense_Mutation_p.R446Q	0,1,1	1		possibly_damaging(0.904)	p.R803Q	NM_001130955	NP_001124427		tolerated(0.05)	0,1,1	ARHGI_HUMAN	ARHGEF18	HGNC	Q6ZSZ5	ARHGI_HUMAN			M0R125_HUMAN		15	2661	+		Renal(5;0.0902)	UPI0000D6170D	803			Potential.		SNV	ARHGEF18,missense_variant,p.Arg803Gln,ENST00000359920,NM_001130955.1;ARHGEF18,missense_variant,p.Arg645Gln,ENST00000319670,NM_015318.3;ARHGEF18,missense_variant,p.Arg448Gln,ENST00000594665,;CTD-2207O23.3,missense_variant,p.Arg761Gln,ENST00000593531,;	uc002mgi.2	c.2408G>A	2661/5733	2	2			c.2408G>A						19	SNP	c.(2407-2409)CGG>CAG	19	19			ovary(1)	1	Broad	Rho/Rac guanine nucleotide exchange factor 18			7531967		0.672	ENSG00000104880	883	g.chr19:7531967G>A	actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity							247.946171	KEEP	50	49	-1	59	50	50	49	-1	248.261556	59	50	0.551471	1	0	0	0	0	1	0	0	0	--	--		0	A			ARHGEF18_uc010xjm.1_Missense_Mutation_p.R645Q|ARHGEF18_uc002mgh.2_Missense_Mutation_p.R645Q|ARHGEF18_uc002mgj.1_Missense_Mutation_p.R446Q	119	GBM-12-0618-TP	p.R803Q	G	CTTGTCCAGCGGATCCAGACA	NM_001130955	NP_001124427	7531967	Q6ZSZ5	ARHGI_HUMAN	0			15	2661	+	A	A		Renal(5;0.0902)	Missense_Mutation	803			Potential.			
ARHGEF25	115557	broad.mit.edu	GRCh37	12	58010639	58010640	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-02-2485-01	TCGA-02-2485-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333972.7:c.1824dup	p.Ala609SerfsTer8	p.A609Sfs*8	ENST00000333972	NM_001111270.2	608	caa/cAaa	0			1			A	Q/QX	uc001spb.2	protein_coding		CCDS8947.1			1705-1706/1743										0	c.(1705-1707)CAAfs			hmmpanther:PTHR22826:SF117,hmmpanther:PTHR22826	RhoA/RAC/CDC42 exchange factor isoform 1				ENSP00000286494		15/15										15/15	.		ENST00000286494	Transcript			regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	ENSG00000240771	g.chr12:58010639_58010640insA	30275	2		HIGH								--	--	1																																		GEFT_uc009zpy.2_Frame_Shift_Ins_p.Q608fs|GEFT_uc001spa.2_Frame_Shift_Ins_p.Q463fs|uc001spc.2_Intron|GEFT_uc001spd.2_Frame_Shift_Ins_p.Q274fs					p.Q569fs	NM_182947	NP_891992				ARHGP_HUMAN	ARHGEF25	HGNC	Q86VW2	ARHGP_HUMAN					15	2165_2166	+	Melanoma(17;0.122)		UPI00003668DB	569					insertion	ARHGEF25,frameshift_variant,p.Ala570SerfsTer8,ENST00000286494,NM_182947.3;ARHGEF25,frameshift_variant,p.Ala609SerfsTer8,ENST00000333972,NM_001111270.2;SLC26A10,upstream_gene_variant,,ENST00000379218,;SLC26A10,upstream_gene_variant,,ENST00000320442,NM_133489.2;AC025165.8,intron_variant,,ENST00000356672,;AC025165.8,intron_variant,,ENST00000444467,;AC025165.8,intron_variant,,ENST00000593846,;AC025165.8,upstream_gene_variant,,ENST00000610219,;ARHGEF25,non_coding_transcript_exon_variant,,ENST00000477314,;ARHGEF25,non_coding_transcript_exon_variant,,ENST00000471370,;SLC26A10,upstream_gene_variant,,ENST00000474359,;SLC26A10,upstream_gene_variant,,ENST00000440686,;ARHGEF25,downstream_gene_variant,,ENST00000469072,;ARHGEF25,downstream_gene_variant,,ENST00000466399,;SLC26A10,upstream_gene_variant,,ENST00000497297,;SLC26A10,upstream_gene_variant,,ENST00000463802,;ARHGEF25,downstream_gene_variant,,ENST00000484357,;	uc001spb.2	c.1705_1706insA	2165-2166/2552	5	5			c.1705_1706insA						12	INS	c.(1705-1707)CAAfs	32	32				0	Broad	RhoA/RAC/CDC42 exchange factor isoform 1			58010640		0.554	ENSG00000240771	6215	g.chr12:58010639_58010640insA	regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity																				0	1	0	0	1	1	0	0	0	0	--	--		0	A			GEFT_uc009zpy.2_Frame_Shift_Ins_p.Q608fs|GEFT_uc001spa.2_Frame_Shift_Ins_p.Q463fs|uc001spc.2_Intron|GEFT_uc001spd.2_Frame_Shift_Ins_p.Q274fs	7	GBM-02-2485-TP	p.Q569fs	-	CCCTCCCTGCCAAGCCAGACTT	NM_182947	NP_891992	58010639	Q86VW2	ARHGP_HUMAN	0			15	2165_2166	+	A	A	Melanoma(17;0.122)		Frame_Shift_Ins	569						
ARHGEF26	0	broad.mit.edu	GRCh37	3	153867229	153867229	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-26-1439-01	TCGA-26-1439-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356448.4:c.1321C>G	p.Gln441Glu	p.Q441E	ENST00000356448	NM_001251962.1	441	Caa/Gaa	0			1			G	Q/E	uc011bog.1	protein_coding	YES	CCDS46938.1			1321/2616									large_intestine(1)	1	c.(1321-1323)CAA>GAA			Gene3D:1.20.900.10,PROSITE_profiles:PS50010,hmmpanther:PTHR12845,hmmpanther:PTHR12845:SF4,Superfamily_domains:SSF48065	Src homology 3 domain-containing guanine				ENSP00000348828		15-May									COSM3408370,COSM3408369,COSM3408371	15-May	.		ENST00000356448	Transcript			regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity	ENSG00000114790	g.chr3:153867229C>G	24490			MODERATE		2.5	medium	getma.org/?cm=msa&ty=f&p=ARHGQ_HUMAN&rb=439&re=623&var=Q441E	getma.org/pdb.php?prot=ARHGQ_HUMAN&from=439&to=623&var=Q441E	getma.org/?cm=var&var=hg19,3,153867229,C,G&fts=all	Q441E	--	--	1																																		SGEF_uc011boh.1_Missense_Mutation_p.Q441E	1,1,1	1		benign(0.162)	p.Q441E	NM_015595	NP_056410		deleterious(0.01)	1,1,1	ARHGQ_HUMAN	ARHGEF26	HGNC	Q96DR7	ARHGQ_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)				5	1532	+			UPI00001410D0	441			DH.		SNV	ARHGEF26,missense_variant,p.Gln441Glu,ENST00000356448,NM_001251962.1;ARHGEF26,missense_variant,p.Gln441Glu,ENST00000465093,NM_015595.3,NM_001251963.1;ARHGEF26,intron_variant,,ENST00000465817,;ARHGEF26,missense_variant,p.Gln441Glu,ENST00000496710,;	uc011bog.1	c.1321C>G	1605/5254	4	4			c.1321C>G						3	SNP	c.(1321-1323)CAA>GAA	17	17			large_intestine(1)	1	Broad	Src homology 3 domain-containing guanine			153867229		0.393	ENSG00000114790	13982	g.chr3:153867229C>G	regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity							-0.479496	KEEP	2	0	-1	16	22	2	0	-1	6.451119	16	22	0.058824	1	0	0	0	0	1	0	0	0	--	--		0	G			SGEF_uc011boh.1_Missense_Mutation_p.Q441E	179	GBM-26-1439-TP	p.Q441E	C	AAGAAAGAGACAAGAGGTATG	NM_015595	NP_056410	153867229	Q96DR7	ARHGQ_HUMAN	0	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		5	1532	+	G	G			Missense_Mutation	441			DH.			
ARHGEF26	26084		GRCh37	3	153840688	153840688	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000356448.4:c.907G>C	p.Asp303His	p.D303H	ENST00000356448	NM_001251962.1	303	Gat/Cat	0																																																																																																																																																																																																																																												
ARHGEF28	64283	broad.mit.edu	GRCh37	5	73090229	73090229	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0210-01	TCGA-06-0210-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000545377.1:c.913A>G	p.Ile305Val	p.I305V	ENST00000545377	NM_001080479.2	305	Att/Gtt	0			1			G	I/V	uc011csq.1	protein_coding		CCDS54870.1			913/5118										0	c.(913-915)ATT>GTT			hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF4	Rho-guanine nucleotide exchange factor				ENSP00000412175		Jul-35									COSM3410402,COSM3410403	Jul-35	.		ENST00000426542	Transcript			cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding	ENSG00000214944	g.chr5:73090229A>G	30322			MODERATE		-0.145	neutral	getma.org/?cm=msa&ty=f&p=RGNEF_HUMAN&rb=201&re=400&var=I305V	NA	getma.org/?cm=var&var=hg19,5,73090229,A,G&fts=all	I305V	--	--	1																																		RGNEF_uc003kcx.2_Missense_Mutation_p.I305V|RGNEF_uc003kcy.1_Missense_Mutation_p.I305V|RGNEF_uc010izf.2_Missense_Mutation_p.I305V	1,1			benign(0.001)	p.I305V	NM_001080479	NP_001073948		tolerated(0.73)	1,1	ARG28_HUMAN	ARHGEF28	HGNC	Q8N1W1	RGNEF_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)	D6RAP0_HUMAN		7	924	+		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)	UPI0001AE73FF	305					SNV	ARHGEF28,missense_variant,p.Ile305Val,ENST00000545377,NM_001080479.2;ARHGEF28,missense_variant,p.Ile305Val,ENST00000513042,NM_001177693.1;ARHGEF28,missense_variant,p.Ile305Val,ENST00000287898,;ARHGEF28,missense_variant,p.Ile305Val,ENST00000426542,;ARHGEF28,missense_variant,p.Ile305Val,ENST00000437974,;ARHGEF28,missense_variant,p.Ile305Val,ENST00000296794,;ARHGEF28,non_coding_transcript_exon_variant,,ENST00000510131,;	uc011csq.1	c.913A>G	933/6118	4	4			c.913A>G						5	SNP	c.(913-915)ATT>GTT	23	23				0	Broad	Rho-guanine nucleotide exchange factor			73090229		0.398	ENSG00000214944	13072	g.chr5:73090229A>G	cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding							11.892577	KEEP	4	1	-1	3	9	4	1	-1	12.801301	3	9	0.25	1	0	0	0	0	1	0	0	0	--	--		0	G			RGNEF_uc003kcx.2_Missense_Mutation_p.I305V|RGNEF_uc003kcy.1_Missense_Mutation_p.I305V|RGNEF_uc010izf.2_Missense_Mutation_p.I305V	47	GBM-06-0210-TP	p.I305V	A	TTTTGCAGAGATTAAGAATTC	NM_001080479	NP_001073948	73090229	Q8N1W1	RGNEF_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)	7	924	+	G	G		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)	Missense_Mutation	305						
ARHGEF28	64283	broad.mit.edu	GRCh37	5	73045681	73045681	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5411-01	TCGA-06-5411-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000545377.1:c.53C>T	p.Ala18Val	p.A18V	ENST00000545377	NM_001080479.2	18	gCg/gTg	0			1			T	A/V	uc011csq.1	protein_coding		CCDS54870.1			53/5118										0	c.(52-54)GCG>GTG			hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF4	Rho-guanine nucleotide exchange factor				ENSP00000412175		Feb-35	1.65E-05				0.000151		0.00112		rs780928597,COSM3410400,COSM3410401	Feb-35	.		ENST00000426542	Transcript			cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding	ENSG00000214944	g.chr5:73045681C>T	30322			MODERATE		0.96	low	getma.org/?cm=msa&ty=f&p=RGNEF_HUMAN&rb=1&re=200&var=A18V	NA	getma.org/?cm=var&var=hg19,5,73045681,C,T&fts=all	A18V	--	--	1																																		RGNEF_uc003kcx.2_Missense_Mutation_p.A18V|RGNEF_uc003kcy.1_Missense_Mutation_p.A18V|RGNEF_uc010izf.2_Missense_Mutation_p.A18V	0,1,1			probably_damaging(0.989)	p.A18V	NM_001080479	NP_001073948		tolerated(0.12)	0,1,1	ARG28_HUMAN	ARHGEF28	HGNC	Q8N1W1	RGNEF_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)	D6RAP0_HUMAN		2	64	+		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)	UPI0001AE73FF	18					SNV	ARHGEF28,missense_variant,p.Ala18Val,ENST00000545377,NM_001080479.2;ARHGEF28,missense_variant,p.Ala18Val,ENST00000513042,NM_001177693.1;ARHGEF28,missense_variant,p.Ala18Val,ENST00000287898,;ARHGEF28,missense_variant,p.Ala18Val,ENST00000426542,;ARHGEF28,missense_variant,p.Ala18Val,ENST00000437974,;ARHGEF28,missense_variant,p.Ala18Val,ENST00000296794,;ARHGEF28,missense_variant,p.Ala18Val,ENST00000509848,;	uc011csq.1	c.53C>T	73/6118	2	2			c.53C>T						5	SNP	c.(52-54)GCG>GTG	32	32				0	Broad	Rho-guanine nucleotide exchange factor			73045681		0.443	ENSG00000214944	13072	g.chr5:73045681C>T	cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding							43.111999	KEEP	9	13	-1	29	33	9	13	-1	47.922411	29	33	0.236842	1	0	0	0	0	1	0	0	0	--	--		0	T			RGNEF_uc003kcx.2_Missense_Mutation_p.A18V|RGNEF_uc003kcy.1_Missense_Mutation_p.A18V|RGNEF_uc010izf.2_Missense_Mutation_p.A18V	94	GBM-06-5411-TP	p.A18V	C	ATGATCTATGCGAAGTTTGAC	NM_001080479	NP_001073948	73045681	Q8N1W1	RGNEF_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)	2	64	+	T	T		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)	Missense_Mutation	18						
ARHGEF28	0	broad.mit.edu	GRCh37	5	73048878	73048878	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01	TCGA-76-4935-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000426542.2:c.326G>A	p.Arg109His	p.R109H	ENST00000426542		109	cGc/cAc	0			1			A	R/H	uc011csq.1	protein_coding		CCDS54870.1			326/5118										0	c.(325-327)CGC>CAC			hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF4	Rho-guanine nucleotide exchange factor				ENSP00000412175		Mar-35	1.65E-05					3.47E-05			rs772380154,COSM3748307,COSM3748308	Mar-35	.		ENST00000426542	Transcript			cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding	ENSG00000214944	g.chr5:73048878G>A	30322			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=RGNEF_HUMAN&rb=1&re=200&var=R109H	NA	getma.org/?cm=var&var=hg19,5,73048878,G,A&fts=all	R109H	--	--	1																																		RGNEF_uc003kcx.2_Missense_Mutation_p.R109H|RGNEF_uc003kcy.1_Missense_Mutation_p.R109H|RGNEF_uc010izf.2_Missense_Mutation_p.R109H	0,1,1			possibly_damaging(0.742)	p.R109H	NM_001080479	NP_001073948		tolerated(0.07)	0,1,1	ARG28_HUMAN	ARHGEF28	HGNC	Q8N1W1	RGNEF_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)	D6RAP0_HUMAN		3	337	+		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)	UPI0001AE73FF	109					SNV	ARHGEF28,missense_variant,p.Arg109His,ENST00000545377,NM_001080479.2;ARHGEF28,missense_variant,p.Arg109His,ENST00000513042,NM_001177693.1;ARHGEF28,missense_variant,p.Arg109His,ENST00000287898,;ARHGEF28,missense_variant,p.Arg109His,ENST00000426542,;ARHGEF28,missense_variant,p.Arg109His,ENST00000437974,;ARHGEF28,missense_variant,p.Arg109His,ENST00000296794,;ARHGEF28,downstream_gene_variant,,ENST00000509848,;	uc011csq.1	c.326G>A	346/6118	1	1			c.326G>A						5	SNP	c.(325-327)CGC>CAC	54	54				0	Broad	Rho-guanine nucleotide exchange factor			73048878		0.617	ENSG00000214944	13072	g.chr5:73048878G>A	cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding							13.237236	KEEP	5	2	-1	5	7	5	2	-1	13.370856	5	7	0.4	1	0	0	0	0	1	0	0	0	--	--		0	A			RGNEF_uc003kcx.2_Missense_Mutation_p.R109H|RGNEF_uc003kcy.1_Missense_Mutation_p.R109H|RGNEF_uc010izf.2_Missense_Mutation_p.R109H	273	GBM-76-4935-TP	p.R109H	G	CAGGCCAATCGCCTCACAGCC	NM_001080479	NP_001073948	73048878	Q8N1W1	RGNEF_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)	3	337	+	A	A		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)	Missense_Mutation	109						
ARHGEF28	64283		GRCh37	5	73128174	73128174	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000545377.1:c.1036G>A	p.Asp346Asn	p.D346N	ENST00000545377	NM_001080479.2	346	Gat/Aat	0																																																																																																																																																																																																																																												
ARHGEF37	0	broad.mit.edu	GRCh37	5	148997790	148997790	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-0861-01	TCGA-16-0861-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333677.6:c.710G>A	p.Arg237His	p.R237H	ENST00000333677	NM_001001669.2	237	cGc/cAc	0			1			A	R/H	uc003lra.1	protein_coding	YES	CCDS43385.1			710/2028										0	c.(709-711)CGC>CAC			hmmpanther:PTHR22834:SF9,hmmpanther:PTHR22834	hypothetical protein LOC389337				ENSP00000328083		13-Jun	3.31E-05	0.000102				1.50E-05		0.000121	rs760408305,COSM3409991	13-Jun	.		ENST00000333677	Transcript			regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	ENSG00000183111	g.chr5:148997790G>A	34430			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=ARH37_HUMAN&rb=213&re=242&var=R237H	NA	getma.org/?cm=var&var=hg19,5,148997790,G,A&fts=all	R237H	--	--	1																																			0,1	1		benign(0.181)	p.R237H	NM_001001669	NP_001001669		deleterious(0.01)	0,1	ARH37_HUMAN	ARHGEF37	HGNC	A1IGU5	ARH37_HUMAN			D6RJH4_HUMAN		6	774	+			UPI00001D7F04	237					SNV	ARHGEF37,missense_variant,p.Arg237His,ENST00000333677,NM_001001669.2;	uc003lra.1	c.710G>A	873/4968	1	1			c.710G>A						5	SNP	c.(709-711)CGC>CAC	61	61				0	Broad	hypothetical protein LOC389337			148997790		0.632	ENSG00000183111	888	g.chr5:148997790G>A	regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity							-23.346584	KEEP	1	4	-1	66	95	1	4	-1	8.861798	66	95	0.036232	1	0	0	0	0	1	0	0	0	--	--		0	A				156	GBM-16-0861-TP	p.R237H	G	CGGCTGGCCCGCATCAACACA	NM_001001669	NP_001001669	148997790	A1IGU5	ARH37_HUMAN	0			6	774	+	A	A			Missense_Mutation	237						
ARHGEF40	0	broad.mit.edu	GRCh37	14	21543075	21543075	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-5959-01	TCGA-19-5959-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298694.4:c.1186G>T	p.Asp396Tyr	p.D396Y	ENST00000298694	NM_001278529.1	396	Gac/Tac	0			1			T	D/Y	uc001vzp.2	protein_coding	YES	CCDS32041.1			1186/4560										0	c.(1186-1188)GAC>TAC			hmmpanther:PTHR22826:SF108,hmmpanther:PTHR22826	hypothetical protein LOC55701				ENSP00000298694		24-Mar									COSM3401213	24-Mar	.		ENST00000298694	Transcript			regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	ENSG00000165801	g.chr14:21543075G>T	25516			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=ARH40_HUMAN&rb=201&re=400&var=D396Y	NA	getma.org/?cm=var&var=hg19,14,21543075,G,T&fts=all	D396Y	--	--	1																																		FLJ10357_uc001vzn.1_Missense_Mutation_p.D396Y|FLJ10357_uc001vzo.1_Intron|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_5'UTR	1	1		possibly_damaging(0.855)	p.D396Y	NM_018071	NP_060541		deleterious(0.02)	1	ARH40_HUMAN	ARHGEF40	HGNC	Q8TER5	ARH40_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)			3	1215	+	all_cancers(95;0.00185)		UPI00001FCFB7	396					SNV	ARHGEF40,missense_variant,p.Asp396Tyr,ENST00000298694,NM_001278529.1,NM_018071.4,NM_001278530.1;ARHGEF40,missense_variant,p.Asp396Tyr,ENST00000298693,;ARHGEF40,missense_variant,p.Asp396Tyr,ENST00000555038,;NDRG2,upstream_gene_variant,,ENST00000403829,NM_001282211.1;ARHGEF40,missense_variant,p.Asp396Tyr,ENST00000553709,;ARHGEF40,missense_variant,p.Asp396Tyr,ENST00000556399,;ARHGEF40,non_coding_transcript_exon_variant,,ENST00000555052,;ARHGEF40,intron_variant,,ENST00000555232,;	uc001vzp.2	c.1186G>T	1313/5919	1	1			c.1186G>T						14	SNP	c.(1186-1188)GAC>TAC	13	13				0	Broad	hypothetical protein LOC55701			21543075		0.597	ENSG00000165801	5823	g.chr14:21543075G>T	regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity							86.812409	KEEP	20	15	0.571428571	29	28	20	15	0.571428571	87.40937	29	28	0.409639	1	0	0	0	0	1	0	0	0	--	--		0	T			FLJ10357_uc001vzn.1_Missense_Mutation_p.D396Y|FLJ10357_uc001vzo.1_Intron|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_5'UTR	177	GBM-19-5959-TP	p.D396Y	G	CCGAGGAGGGGACAGTGCCCC	NM_018071	NP_060541	21543075	Q8TER5	ARH40_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)	3	1215	+	T	T	all_cancers(95;0.00185)		Missense_Mutation	396						
ARHGEF40	0	broad.mit.edu	GRCh37	14	21552177	21552179	+	inframe_deletion	In_Frame_Del	DEL	CTG	CTG	-			TCGA-32-4213-01	TCGA-32-4213-01	CTG	CTG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298694.4:c.3760_3762delCTG	p.Leu1254del	p.L1254del	ENST00000298694	NM_001278529.1	1253	CTG/-	0			1			-	L/-	uc001vzp.2	protein_coding	YES	CCDS32041.1			3757-3759/4560										0	c.(3757-3759)CTGdel			PROSITE_profiles:PS50010,hmmpanther:PTHR22826:SF108,hmmpanther:PTHR22826	hypothetical protein LOC55701				ENSP00000298694		17/24										17/24	.		ENST00000298694	Transcript			regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	ENSG00000165801	g.chr14:21552177_21552179delCTG	25516	3		MODERATE								--	--	1																																		FLJ10357_uc001vzo.1_In_Frame_Del_p.L333del|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_In_Frame_Del_p.L540del		1			p.L1254del	NM_018071	NP_060541				ARH40_HUMAN	ARHGEF40	HGNC	Q8TER5	ARH40_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)			17	3786_3788	+	all_cancers(95;0.00185)		UPI00001FCFB7	1254					deletion	ARHGEF40,inframe_deletion,p.Leu1254del,ENST00000298694,NM_001278529.1,NM_018071.4,NM_001278530.1;ARHGEF40,inframe_deletion,p.Leu1254del,ENST00000298693,;ARHGEF40,3_prime_UTR_variant,,ENST00000553709,;ARHGEF40,3_prime_UTR_variant,,ENST00000556399,;ARHGEF40,non_coding_transcript_exon_variant,,ENST00000555232,;ARHGEF40,non_coding_transcript_exon_variant,,ENST00000554514,;ARHGEF40,upstream_gene_variant,,ENST00000557498,;	uc001vzp.2	c.3757_3759delCTG	3884-3886/5919	5	5			c.3757_3759delCTG						14	DEL	c.(3757-3759)CTGdel	20	20				0	Broad	hypothetical protein LOC55701			21552179		0.606	ENSG00000165801	5823	g.chr14:21552177_21552179delCTG	regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity																				0.25	1	1	0	1	0	0	0	0	0	--	--		0	-			FLJ10357_uc001vzo.1_In_Frame_Del_p.L333del|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_In_Frame_Del_p.L540del	247	GBM-32-4213-TP	p.L1254del	CTG	TGGCAGAGACCTGCTGGCCGTGG	NM_018071	NP_060541	21552177	Q8TER5	ARH40_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)	17	3786_3788	+	-	-	all_cancers(95;0.00185)		In_Frame_Del	1254						
ARHGEF5	0	broad.mit.edu	GRCh37	7	144062310	144062310	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01	TCGA-27-2519-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000056217.5:c.2548G>A	p.Glu850Lys	p.E850K	ENST00000056217	NM_005435.3	850	Gaa/Aaa	0	A:0.0007	A:0.0008	1	A:0		A	E/K	uc003wel.2	protein_coding	YES	CCDS34771.1			2548/4794									skin(2)	2	c.(2548-2550)GAA>AAA			Low_complexity_(Seg):seg,hmmpanther:PTHR12845:SF2,hmmpanther:PTHR12845	rho guanine nucleotide exchange factor 5		A:0	A:0	ENSP00000056217	A:0	15-Feb	0.000107	0.000836				6.17E-05			rs368131997,COSM3411751	15-Feb	common_variant		ENST00000056217	Transcript		A:0.0002	intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	ENSG00000050327	g.chr7:144062310G>A	13209			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=ARHG5_HUMAN&rb=797&re=996&var=E850K	NA	getma.org/?cm=var&var=hg19,7,144062310,G,A&fts=all	E850K	--	--	1																																		ARHGEF5_uc003wek.2_Missense_Mutation_p.E850K|ARHGEF5_uc003wem.2_5'Flank	0,1	1		possibly_damaging(0.755)	p.E850K	NM_005435	NP_005426	A:0	tolerated(0.12)	0,1	ARHG5_HUMAN	ARHGEF5	HGNC	Q12774	ARHG5_HUMAN			H9XFB6_HUMAN		2	2666	+	Melanoma(164;0.14)		UPI00004028DC	850					SNV	ARHGEF5,missense_variant,p.Glu850Lys,ENST00000056217,NM_005435.3;ARHGEF5,missense_variant,p.Glu104Lys,ENST00000474817,;ARHGEF5,intron_variant,,ENST00000498580,;ARHGEF5,upstream_gene_variant,,ENST00000471847,;	uc003wel.2	c.2548G>A	2722/5544	1	1			c.2548G>A						7	SNP	c.(2548-2550)GAA>AAA	50	50			skin(2)	2	Broad	rho guanine nucleotide exchange factor 5			144062310		0.587	ENSG00000050327	891	g.chr7:144062310G>A	intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity							26.819149	KEEP	8	18	-1	44	99	8	18	-1	38.74381	44	99	0.148515	1	0	0	0	0	1	0	0	0	--	--		0	A			ARHGEF5_uc003wek.2_Missense_Mutation_p.E850K|ARHGEF5_uc003wem.2_5'Flank	199	GBM-27-2519-TP	p.E850K	G	CCCTCCCACCGAACCACCCCC	NM_005435	NP_005426	144062310	Q12774	ARHG5_HUMAN	0			2	2666	+	A	A	Melanoma(164;0.14)		Missense_Mutation	850						
ARHGEF5	0	broad.mit.edu	GRCh37	7	144060365	144060365	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-28-1753-01	TCGA-28-1753-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000056217.5:c.603T>A	p.Ser201Arg	p.S201R	ENST00000056217	NM_005435.3	201	agT/agA	0			1			A	S/R	uc003wel.2	protein_coding	YES	CCDS34771.1			603/4794									skin(2)	2	c.(601-603)AGT>AGA			hmmpanther:PTHR12845:SF2,hmmpanther:PTHR12845,Pfam_domain:PF15441	rho guanine nucleotide exchange factor 5				ENSP00000056217		15-Feb									COSM3748363	15-Feb	.		ENST00000056217	Transcript			intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	ENSG00000050327	g.chr7:144060365T>A	13209			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=ARHG5_HUMAN&rb=1&re=596&var=S201R	NA	getma.org/?cm=var&var=hg19,7,144060365,T,A&fts=all	S201R	--	--	1																																		ARHGEF5_uc003wek.2_Missense_Mutation_p.S201R	1	1		benign(0.289)	p.S201R	NM_005435	NP_005426		tolerated(0.2)	1	ARHG5_HUMAN	ARHGEF5	HGNC	Q12774	ARHG5_HUMAN			H9XFB6_HUMAN		2	721	+	Melanoma(164;0.14)		UPI00004028DC	201					SNV	ARHGEF5,missense_variant,p.Ser201Arg,ENST00000056217,NM_005435.3;ARHGEF5,intron_variant,,ENST00000498580,;ARHGEF5,upstream_gene_variant,,ENST00000474817,;ARHGEF5,upstream_gene_variant,,ENST00000471847,;	uc003wel.2	c.603T>A	777/5544	2	2			c.603T>A						7	SNP	c.(601-603)AGT>AGA	33	33			skin(2)	2	Broad	rho guanine nucleotide exchange factor 5			144060365		0.532	ENSG00000050327	891	g.chr7:144060365T>A	intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity							-63.317392	KEEP	19	15	-1	309	307	19	15	-1	63.127927	309	307	0.050761	1	0	0	0	0	1	0	0	0	--	--		0	A			ARHGEF5_uc003wek.2_Missense_Mutation_p.S201R	207	GBM-28-1753-TP	p.S201R	T	GCTCTGAAAGTGGGACTATCA	NM_005435	NP_005426	144060365	Q12774	ARHG5_HUMAN	0			2	721	+	A	A	Melanoma(164;0.14)		Missense_Mutation	201						
ARHGEF6	0	broad.mit.edu	GRCh37	X	135754253	135754253	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-14-1450-01	TCGA-14-1450-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000250617.6:c.2061A>T	p.Gln687His	p.Q687H	ENST00000250617	NM_004840.2	687	caA/caT	0			1			A	Q/H	uc004fab.2	protein_coding	YES	CCDS14660.1			2061/2331										0	c.(2059-2061)CAA>CAT			hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF92	Rac/Cdc42 guanine nucleotide exchange factor 6				ENSP00000250617		20/22									COSM3405997	20/22	.		ENST00000250617	Transcript	1		apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	ENSG00000129675	g.chrX:135754253T>A	685			MODERATE		0.76	neutral	getma.org/?cm=msa&ty=f&p=ARHG6_HUMAN&rb=549&re=748&var=Q687H	NA	getma.org/?cm=var&var=hg19,X,135754253,T,A&fts=all	Q687H	--	--	1																																		ARHGEF6_uc011mwd.1_Missense_Mutation_p.Q560H|ARHGEF6_uc011mwe.1_Missense_Mutation_p.Q533H	1	1		benign(0.033)	p.Q687H	NM_004840	NP_004831		tolerated(0.22)	1	ARHG6_HUMAN	ARHGEF6	HGNC	Q15052	ARHG6_HUMAN					20	2523	-	Acute lymphoblastic leukemia(192;0.000127)		UPI0000001C8E	687					SNV	ARHGEF6,missense_variant,p.Gln687His,ENST00000250617,NM_004840.2;ARHGEF6,missense_variant,p.Gln533His,ENST00000370622,;ARHGEF6,missense_variant,p.Gln533His,ENST00000370620,;ARHGEF6,missense_variant,p.Gln560His,ENST00000535227,;	uc004fab.2	c.2061A>T	3267/6019	1	1			c.2061A>T						23	SNP	c.(2059-2061)CAA>CAT	55	55				0	Broad	Rac/Cdc42 guanine nucleotide exchange factor 6			135754253		0.458	ENSG00000129675	892	g.chrX:135754253T>A	apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity							0.824496	KEEP	16	17	-1	151	188	16	17	-1	57.263439	151	188	0.088146	1	0	0	0	0	1	0	0	0	--	--		0	A			ARHGEF6_uc011mwd.1_Missense_Mutation_p.Q560H|ARHGEF6_uc011mwe.1_Missense_Mutation_p.Q533H	145	GBM-14-1450-TP	p.Q687H	T	GGAGTAGGACTTGTGGAATGG	NM_004840	NP_004831	135754253	Q15052	ARHG6_HUMAN	0			20	2523	-	A	A	Acute lymphoblastic leukemia(192;0.000127)		Missense_Mutation	687						
ARHGEF6	0	broad.mit.edu	GRCh37	X	135825762	135825762	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01	TCGA-26-6174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000250617.6:c.643C>T	p.Arg215Cys	p.R215C	ENST00000250617	NM_004840.2	215	Cgt/Tgt	0			1			A	R/C	uc004fab.2	protein_coding	YES	CCDS14660.1			643/2331										0	c.(643-645)CGT>TGT			Gene3D:2.30.30.40,Prints_domain:PR00452,PROSITE_profiles:PS50002,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF92,SMART_domains:SM00326,Superfamily_domains:SSF50044	Rac/Cdc42 guanine nucleotide exchange factor 6				ENSP00000250617		22-May									COSM3405998	22-May	.		ENST00000250617	Transcript	1		apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	ENSG00000129675	g.chrX:135825762G>A	685			MODERATE		1.515	low	getma.org/?cm=msa&ty=f&p=ARHG6_HUMAN&rb=164&re=217&var=R215C	getma.org/pdb.php?prot=ARHG6_HUMAN&from=164&to=217&var=R215C	getma.org/?cm=var&var=hg19,X,135825762,G,A&fts=all	R215C	--	--	1																																		ARHGEF6_uc011mwd.1_Missense_Mutation_p.R61C|ARHGEF6_uc011mwe.1_Missense_Mutation_p.R61C	1	1		probably_damaging(0.946)	p.R215C	NM_004840	NP_004831		deleterious(0)	1	ARHG6_HUMAN	ARHGEF6	HGNC	Q15052	ARHG6_HUMAN					5	1105	-	Acute lymphoblastic leukemia(192;0.000127)		UPI0000001C8E	215			SH3.		SNV	ARHGEF6,missense_variant,p.Arg215Cys,ENST00000250617,NM_004840.2;ARHGEF6,missense_variant,p.Arg61Cys,ENST00000370622,;ARHGEF6,missense_variant,p.Arg61Cys,ENST00000370620,;ARHGEF6,missense_variant,p.Arg61Cys,ENST00000535227,;	uc004fab.2	c.643C>T	1849/6019	2	2			c.643C>T						23	SNP	c.(643-645)CGT>TGT	20	20				0	Broad	Rac/Cdc42 guanine nucleotide exchange factor 6			135825762		0.388	ENSG00000129675	892	g.chrX:135825762G>A	apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity							61.762999	KEEP	15	12	-1	32	67	15	12	-1	70.481767	32	67	0.221311	1	0	0	0	0	1	0	0	0	--	--		0	A			ARHGEF6_uc011mwd.1_Missense_Mutation_p.R61C|ARHGEF6_uc011mwe.1_Missense_Mutation_p.R61C	188	GBM-26-6174-TP	p.R215C	G	TTAATTTCACGGACATAATTA	NM_004840	NP_004831	135825762	Q15052	ARHG6_HUMAN	0			5	1105	-	A	A	Acute lymphoblastic leukemia(192;0.000127)		Missense_Mutation	215			SH3.			
ARHGEF7	0	broad.mit.edu	GRCh37	13	111896312	111896315	+	splice_donor_variant,coding_sequence_variant	Splice_Site	DEL	AAGT	AAGT	-			TCGA-28-2514-01	TCGA-28-2514-01	AAGT	AAGT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375741.2:c.917+3_917+6delAAGT		p.X306_splice	ENST00000375741	NM_145735.2	306		0			1			-		uc001vrs.2	protein_coding	YES	CCDS45068.1			916-?/2412									ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	c.e8+1				PAK-interacting exchange factor beta isoform c				ENSP00000364893		20-Aug										20-Aug	.		ENST00000375741	Transcript			apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	ENSG00000102606	g.chr13:111896312_111896315delAAGT	15607	4		HIGH	19-Aug							--	--	1																																		ARHGEF7_uc001vrr.2_Splice_Site_p.K285_splice|ARHGEF7_uc001vrt.2_Splice_Site_p.K256_splice|ARHGEF7_uc010tjn.1_Intron|ARHGEF7_uc001vru.1_Splice_Site_p.K128_splice|ARHGEF7_uc001vrv.3_Splice_Site_p.K128_splice|ARHGEF7_uc001vrw.3_Splice_Site_p.K128_splice|ARHGEF7_uc001vrx.3_Splice_Site_p.K128_splice|ARHGEF7_uc010tjo.1_Splice_Site_p.K203_splice|ARHGEF7_uc010tjp.1_Splice_Site_p.K50_splice|ARHGEF7_uc010agn.1_Splice_Site_p.K50_splice		1			p.K306_splice	NM_001113511	NP_001106983				ARHG7_HUMAN	ARHGEF7	HGNC	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		Q5ZEZ3_HUMAN,E7EUY6_HUMAN,C9JDI6_HUMAN,C9JAD7_HUMAN,B1ANY6_HUMAN		8	1167	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		UPI00002132CC						deletion	ARHGEF7,splice_donor_variant,,ENST00000375741,NM_145735.2,NM_001113511.1;ARHGEF7,splice_donor_variant,,ENST00000375739,NM_001113512.1;ARHGEF7,splice_donor_variant,,ENST00000218789,;ARHGEF7,splice_donor_variant,,ENST00000375736,NM_003899.3;ARHGEF7,splice_donor_variant,,ENST00000375723,;ARHGEF7,splice_donor_variant,,ENST00000426073,NM_001113513.1;ARHGEF7,splice_donor_variant,,ENST00000370623,;ARHGEF7,splice_donor_variant,,ENST00000317133,;ARHGEF7,splice_donor_variant,,ENST00000375737,;ARHGEF7,splice_donor_variant,,ENST00000478679,;ARHGEF7,splice_donor_variant,,ENST00000466143,;ARHGEF7,intron_variant,,ENST00000544132,;ARHGEF7,splice_donor_variant,,ENST00000483189,;ARHGEF7,intron_variant,,ENST00000469877,;	uc001vrs.2	c.917_splice	1166-?/5525	5	5			c.917_splice						13	DEL	c.e8+1	63	63			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	Broad	PAK-interacting exchange factor beta isoform c			111896315		0.324	ENSG00000102606	893	g.chr13:111896312_111896315delAAGT	apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			707			707														0.29	1	1	0	1	0	0	0	0	1	--	--		0	-			ARHGEF7_uc001vrr.2_Splice_Site_p.K285_splice|ARHGEF7_uc001vrt.2_Splice_Site_p.K256_splice|ARHGEF7_uc010tjn.1_Intron|ARHGEF7_uc001vru.1_Splice_Site_p.K128_splice|ARHGEF7_uc001vrv.3_Splice_Site_p.K128_splice|ARHGEF7_uc001vrw.3_Splice_Site_p.K128_splice|ARHGEF7_uc001vrx.3_Splice_Site_p.K128_splice|ARHGEF7_uc010tjo.1_Splice_Site_p.K203_splice|ARHGEF7_uc010tjp.1_Splice_Site_p.K50_splice|ARHGEF7_uc010agn.1_Splice_Site_p.K50_splice	214	GBM-28-2514-TP	p.K306_splice	AAGT	GACCAGTGAGAAGTAAGTTAGATG	NM_001113511	NP_001106983	111896312	Q14155	ARHG7_HUMAN	0	BRCA - Breast invasive adenocarcinoma(86;0.188)		8	1167	+	-	-	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		Splice_Site							
ARHGEF9	0	broad.mit.edu	GRCh37	X	62926262	62926262	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-14-2554-01	TCGA-14-2554-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000253401.6:c.257C>A	p.Pro86His	p.P86H	ENST00000253401	NM_015185.2	86	cCc/cAc	0			1			T	P/H	uc004dvl.2	protein_coding	YES	CCDS35315.1			257/1551									ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	8	c.(256-258)CCC>CAC			Superfamily_domains:SSF50044,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF103	Cdc42 guanine exchange factor 9				ENSP00000253401		10-Mar									COSM3406515,COSM3406514,COSM3406516	10-Mar	.		ENST00000253401	Transcript	1		apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	ENSG00000131089	g.chrX:62926262G>T	14561			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=ARHG9_HUMAN&rb=60&re=106&var=P86H	NA	getma.org/?cm=var&var=hg19,X,62926262,G,T&fts=all	P86H	--	--	1																																		ARHGEF9_uc004dvj.1_5'UTR|ARHGEF9_uc004dvk.1_5'UTR|ARHGEF9_uc011mos.1_Missense_Mutation_p.P65H|ARHGEF9_uc004dvm.1_Missense_Mutation_p.P65H|ARHGEF9_uc011mot.1_Missense_Mutation_p.P33H|ARHGEF9_uc004dvn.2_Missense_Mutation_p.P93H	1,1,1	1		possibly_damaging(0.846)	p.P86H	NM_015185	NP_056000		tolerated(0.08)	1,1,1	ARHG9_HUMAN	ARHGEF9	HGNC	O43307	ARHG9_HUMAN			B1AMR3_HUMAN		3	1096	-			UPI000006F940	86					SNV	ARHGEF9,missense_variant,p.Pro86His,ENST00000253401,NM_015185.2;ARHGEF9,missense_variant,p.Pro33His,ENST00000437457,NM_001173479.1;ARHGEF9,missense_variant,p.Pro65His,ENST00000374872,;ARHGEF9,missense_variant,p.Pro84His,ENST00000374878,;ARHGEF9,5_prime_UTR_variant,,ENST00000374870,NM_001173480.1;ARHGEF9,non_coding_transcript_exon_variant,,ENST00000495564,;	uc004dvl.2	c.257C>A	1058/5413	1	1			c.257C>A						23	SNP	c.(256-258)CCC>CAC	12	12			ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	8	Broad	Cdc42 guanine exchange factor 9			62926262		0.547	ENSG00000131089	894	g.chrX:62926262G>T	apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity							10.162388	KEEP	2	3	0.4	9	16	2	3	0.4	12.668907	9	16	0.185185	1	0	0	0	0	1	0	0	0	--	--		0	T			ARHGEF9_uc004dvj.1_5'UTR|ARHGEF9_uc004dvk.1_5'UTR|ARHGEF9_uc011mos.1_Missense_Mutation_p.P65H|ARHGEF9_uc004dvm.1_Missense_Mutation_p.P65H|ARHGEF9_uc011mot.1_Missense_Mutation_p.P33H|ARHGEF9_uc004dvn.2_Missense_Mutation_p.P93H	150	GBM-14-2554-TP	p.P86H	G	GTCTGAATTGGGGTCCAGGTG	NM_015185	NP_056000	62926262	O43307	ARHG9_HUMAN	0			3	1096	-	T	T			Missense_Mutation	86						
ARHGEF9	23229		GRCh37	X	62875413	62875413	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000253401.6:c.1261A>G	p.Arg421Gly	p.R421G	ENST00000253401	NM_015185.2	421	Aga/Gga	0																																																																																																																																																																																																																																												
ARID1A	0	broad.mit.edu	GRCh37	1	27099916	27099916	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324856.7:c.3795C>T	p.Gly1265=	p.G1265=	ENST00000324856	NM_006015.4	1265	ggC/ggT	0			1			T	G	uc001bmv.1	protein_coding	YES	CCDS285.1			3795/6858	Mis|N|F|S|D				clear cell ovarian carcinoma|RCC				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142	c.(3793-3795)GGC>GGT			hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12	AT rich interactive domain 1A isoform a				ENSP00000320485		15/20									COSM2156052	15/20	.		ENST00000324856	Transcript	1		androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	ENSG00000117713	g.chr1:27099916C>T	11110			LOW								--	--	1																																		ARID1A_uc001bmt.1_Silent_p.G1264G|ARID1A_uc001bmu.1_Silent_p.G1265G|ARID1A_uc001bmw.1_Silent_p.G882G|ARID1A_uc001bmx.1_Silent_p.G111G|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	1	1			p.G1265G	NM_006015	NP_006006			1	ARI1A_HUMAN	ARID1A	HGNC	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN		15	4168	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	UPI0000167B91	1265					SNV	ARID1A,synonymous_variant,p.=,ENST00000324856,NM_006015.4;ARID1A,synonymous_variant,p.=,ENST00000457599,NM_139135.2;ARID1A,synonymous_variant,p.=,ENST00000374152,;ARID1A,synonymous_variant,p.=,ENST00000430799,;ARID1A,5_prime_UTR_variant,,ENST00000540690,;ARID1A,synonymous_variant,p.=,ENST00000466382,;ARID1A,upstream_gene_variant,,ENST00000532781,;	uc001bmv.1	c.3795C>T	4166/8577	1	1			c.3795C>T	Mis|N|F|S|D				clear cell ovarian carcinoma|RCC	1	SNP	c.(3793-3795)GGC>GGT	1	1			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142	Broad	AT rich interactive domain 1A isoform a			27099916		0.607	ENSG00000117713	895	g.chr1:27099916C>T	androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			478			478	47.44293	KEEP	8	13	-1	24	49	8	13	-1	53.577256	24	49	0.224719	1	0	0	0	0	0	0	1	0	--	--		0	T			ARID1A_uc001bmt.1_Silent_p.G1264G|ARID1A_uc001bmu.1_Silent_p.G1265G|ARID1A_uc001bmw.1_Silent_p.G882G|ARID1A_uc001bmx.1_Silent_p.G111G|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	160	GBM-19-1790-TP	p.G1265G	C	GTGCTGCCGGCCCTGGGCTAG	NM_006015	NP_006006	27099916	O14497	ARI1A_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	15	4168	+	T	T		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	Silent	1265						
ARID1A	0	broad.mit.edu	GRCh37	1	27092731	27092731	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs141432631		TCGA-41-3915-01	TCGA-41-3915-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324856.7:c.2752A>G	p.Met918Val	p.M918V	ENST00000324856	NM_006015.4	918	Atg/Gtg	0	G:0		1			G	M/V	uc001bmv.1	protein_coding	YES	CCDS285.1			2752/6858	Mis|N|F|S|D				clear cell ovarian carcinoma|RCC				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142	c.(2752-2754)ATG>GTG			hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12	AT rich interactive domain 1A isoform a			G:0.0001	ENSP00000320485		20-Sep	2.47E-05					4.50E-05			rs141432631,COSM3400646	20-Sep	.		ENST00000324856	Transcript	1		androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	ENSG00000117713	g.chr1:27092731A>G	11110			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=ARI1A_HUMAN&rb=590&re=968&var=M918V	NA	getma.org/?cm=var&var=hg19,1,27092731,A,G&fts=all	M918V	--	--	1																																		ARID1A_uc001bmt.1_Missense_Mutation_p.M918V|ARID1A_uc001bmu.1_Missense_Mutation_p.M918V|ARID1A_uc001bmw.1_Missense_Mutation_p.M535V	0,1	1		unknown(0)	p.M918V	NM_006015	NP_006006			0,1	ARI1A_HUMAN	ARID1A	HGNC	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN		9	3125	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	UPI0000167B91	918					SNV	ARID1A,missense_variant,p.Met918Val,ENST00000324856,NM_006015.4;ARID1A,missense_variant,p.Met918Val,ENST00000457599,NM_139135.2;ARID1A,missense_variant,p.Met535Val,ENST00000374152,;ARID1A,upstream_gene_variant,,ENST00000430799,;RN7SL501P,downstream_gene_variant,,ENST00000578818,;ARID1A,upstream_gene_variant,,ENST00000430291,;	uc001bmv.1	c.2752A>G	3123/8577	3	3			c.2752A>G	Mis|N|F|S|D				clear cell ovarian carcinoma|RCC	1	SNP	c.(2752-2754)ATG>GTG	55	55			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142	Broad	AT rich interactive domain 1A isoform a			27092731		0.483	ENSG00000117713	895	g.chr1:27092731A>G	androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			478			478	-29.494696	KEEP	1	2	-1	78	86	1	2	-1	6.343039	78	86	0.021429	1	0	0	0	0	1	0	0	0	--	--		0	G			ARID1A_uc001bmt.1_Missense_Mutation_p.M918V|ARID1A_uc001bmu.1_Missense_Mutation_p.M918V|ARID1A_uc001bmw.1_Missense_Mutation_p.M535V	256	GBM-41-3915-TP	p.M918V	A	CTACCCCAATATGAATCAAGG	NM_006015	NP_006006	27092731	O14497	ARI1A_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	9	3125	+	G	G		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	Missense_Mutation	918						
ARID1A	8289		GRCh37	1	27106176	27106176	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000324856.7:c.5787T>G	p.Ser1929Arg	p.S1929R	ENST00000324856	NM_006015.4	1929	agT/agG	0																																																																																																																																																																																																																																												
ARID2	0	broad.mit.edu	GRCh37	12	46245922	46245923	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	-			TCGA-19-2629-01	TCGA-19-2629-01	AG	AG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334344.6:c.4017_4018delGA	p.Asn1340LeufsTer12	p.N1340Lfs*12	ENST00000334344	NM_152641.2	1339	cAG/c	0			1			-	Q/X	uc001ros.1	protein_coding	YES	CCDS31783.1			4016-4017/5508									ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	c.(4015-4017)CAGfs			hmmpanther:PTHR22970,hmmpanther:PTHR22970:SF14	AT rich interactive domain 2 (ARID, RFX-like)				ENSP00000335044		15/21									COSM2156322	15/21	.		ENST00000334344	Transcript			chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	ENSG00000189079	g.chr12:46245922_46245923delAG	18037	1		HIGH								--	--	1																																		ARID2_uc001ror.2_Frame_Shift_Del_p.Q1339fs|ARID2_uc009zkg.1_Frame_Shift_Del_p.Q795fs|ARID2_uc009zkh.1_Frame_Shift_Del_p.Q966fs|ARID2_uc001rou.1_Frame_Shift_Del_p.Q673fs	1	1			p.Q1339fs	NM_152641	NP_689854			1	ARID2_HUMAN	ARID2	HGNC	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	Q96SQ4_HUMAN,F8WCU9_HUMAN		15	4016_4017	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	UPI00001D7973	1339					deletion	ARID2,frameshift_variant,p.Asn1340LeufsTer12,ENST00000334344,NM_152641.2;ARID2,frameshift_variant,p.Asn950LeufsTer12,ENST00000444670,;ARID2,frameshift_variant,p.Asn1191LeufsTer12,ENST00000422737,;ARID2,upstream_gene_variant,,ENST00000457135,;ARID2,non_coding_transcript_exon_variant,,ENST00000479608,;	uc001ros.1	c.4016_4017delAG	4188-4189/8642	5	5			c.4016_4017delAG						12	DEL	c.(4015-4017)CAGfs	11	11			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Broad	AT rich interactive domain 2 (ARID, RFX-like)			46245923		0.371	ENSG00000189079	896	g.chr12:46245922_46245923delAG	chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding																				0.39	1	1	0	1	0	0	0	0	0	--	--		0	-			ARID2_uc001ror.2_Frame_Shift_Del_p.Q1339fs|ARID2_uc009zkg.1_Frame_Shift_Del_p.Q795fs|ARID2_uc009zkh.1_Frame_Shift_Del_p.Q966fs|ARID2_uc001rou.1_Frame_Shift_Del_p.Q673fs	166	GBM-19-2629-TP	p.Q1339fs	AG	TCTGGGAAACAGAACTCAGAAC	NM_152641	NP_689854	46245922	Q68CP9	ARID2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	4016_4017	+	-	-	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	Frame_Shift_Del	1339						
ARID2	0	broad.mit.edu	GRCh37	12	46245949	46245949	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-32-1977-01	TCGA-32-1977-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334344.6:c.4043A>T	p.Asp1348Val	p.D1348V	ENST00000334344	NM_152641.2	1348	gAt/gTt	0			1			T	D/V	uc001ros.1	protein_coding	YES	CCDS31783.1			4043/5508									ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	c.(4042-4044)GAT>GTT			hmmpanther:PTHR22970,hmmpanther:PTHR22970:SF14	AT rich interactive domain 2 (ARID, RFX-like)				ENSP00000335044		15/21									COSM3398729	15/21	.		ENST00000334344	Transcript			chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	ENSG00000189079	g.chr12:46245949A>T	18037			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=ARID2_HUMAN&rb=1184&re=1383&var=D1348V	NA	getma.org/?cm=var&var=hg19,12,46245949,A,T&fts=all	D1348V	--	--	1																																		ARID2_uc001ror.2_Missense_Mutation_p.D1348V|ARID2_uc009zkg.1_Missense_Mutation_p.D804V|ARID2_uc009zkh.1_Missense_Mutation_p.D975V|ARID2_uc001rou.1_Missense_Mutation_p.D682V	1	1		benign(0.013)	p.D1348V	NM_152641	NP_689854		deleterious_low_confidence(0.02)	1	ARID2_HUMAN	ARID2	HGNC	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	Q96SQ4_HUMAN,F8WCU9_HUMAN		15	4043	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	UPI00001D7973	1348					SNV	ARID2,missense_variant,p.Asp1348Val,ENST00000334344,NM_152641.2;ARID2,missense_variant,p.Asp958Val,ENST00000444670,;ARID2,missense_variant,p.Asp1199Val,ENST00000422737,;ARID2,upstream_gene_variant,,ENST00000457135,;ARID2,non_coding_transcript_exon_variant,,ENST00000479608,;	uc001ros.1	c.4043A>T	4215/8642	2	2			c.4043A>T						12	SNP	c.(4042-4044)GAT>GTT	44	44			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Broad	AT rich interactive domain 2 (ARID, RFX-like)			46245949		0.358	ENSG00000189079	896	g.chr12:46245949A>T	chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding							70.706455	KEEP	14	12	-1	42	35	14	12	-1	76.090431	42	35	0.257426	1	0	0	0	0	1	0	0	0	--	--		0	T			ARID2_uc001ror.2_Missense_Mutation_p.D1348V|ARID2_uc009zkg.1_Missense_Mutation_p.D804V|ARID2_uc009zkh.1_Missense_Mutation_p.D975V|ARID2_uc001rou.1_Missense_Mutation_p.D682V	229	GBM-32-1977-TP	p.D1348V	A	GACATGCAAGATATCAAAAGT	NM_152641	NP_689854	46245949	Q68CP9	ARID2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	4043	+	T	T	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	Missense_Mutation	1348						
ARID3A	1820		GRCh37	19	964263	964263	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000263620.3:c.782G>A	p.Arg261His	p.R261H	ENST00000263620	NM_005224.2	261	cGc/cAc	0																																																																																																																																																																																																																																												
ARID3B	10620	broad.mit.edu	GRCh37	15	74888087	74888087	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000346246.5:c.1655C>T	p.Ala552Val	p.A552V	ENST00000346246	NM_006465.2	552	gCa/gTa	0			1			T	A/V	uc002aye.2	protein_coding	YES	CCDS10264.1			1655/1683										0	c.(1657-1659)GCA>GTA			hmmpanther:PTHR15348,hmmpanther:PTHR15348:SF3	AT rich interactive domain 3B				ENSP00000343126		9-Sep									COSM3401915	9-Sep	.		ENST00000346246	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	ENSG00000179361	g.chr15:74888087C>T	14350			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=ARI3B_HUMAN&rb=525&re=559&var=A553V	NA	getma.org/?cm=var&var=hg19,15,74888087,C,T&fts=all	A553V	--	--	1																																		ARID3B_uc002ayd.2_Missense_Mutation_p.A552V|CLK3_uc002ayf.1_5'Flank	1	1		possibly_damaging(0.542)	p.A553V	NM_006465	NP_006456		tolerated_low_confidence(0.12)	1	ARI3B_HUMAN	ARID3B	HGNC	Q8IVW6	ARI3B_HUMAN			H3BQ92_HUMAN		9	1859	+			UPI0000070441	553			Ser-rich.		SNV	ARID3B,missense_variant,p.Ala552Val,ENST00000346246,NM_006465.2;ARID3B,downstream_gene_variant,,ENST00000566147,;CLK3,upstream_gene_variant,,ENST00000564353,;ARID3B,upstream_gene_variant,,ENST00000563567,;ARID3B,downstream_gene_variant,,ENST00000566468,;	uc002aye.2	c.1658C>T	1886/4271	2	2			c.1658C>T						15	SNP	c.(1657-1659)GCA>GTA	43	43				0	Broad	AT rich interactive domain 3B			74888087		0.522	ENSG00000179361	898	g.chr15:74888087C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding							120.527227	KEEP	25	29	-1	22	36	25	29	-1	120.725461	22	36	0.557143	1	0	0	0	0	1	0	0	0	--	--		0	T			ARID3B_uc002ayd.2_Missense_Mutation_p.A552V|CLK3_uc002ayf.1_5'Flank	102	GBM-06-5858-TP	p.A553V	C	ACCCCCAGCGCAGAGCCCTCC	NM_006465	NP_006456	74888087	Q8IVW6	ARI3B_HUMAN	0			9	1859	+	T	T			Missense_Mutation	553			Ser-rich.			
ARID3B	10620		GRCh37	15	74884098	74884098	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000346246.5:c.1363C>T	p.Arg455Cys	p.R455C	ENST00000346246	NM_006465.2	455	Cgc/Tgc	0																																																																																																																																																																																																																																												
ARID3C	0	broad.mit.edu	GRCh37	9	34623425	34623425	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-4210-01	TCGA-32-4210-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378909.2:c.862A>G	p.Lys288Glu	p.K288E	ENST00000378909	NM_001017363.1	288	Aaa/Gaa	0			1			C	K/E	uc011lon.1	protein_coding	YES	CCDS35006.1			862/1239									ovary(1)	1	c.(862-864)AAA>GAA			hmmpanther:PTHR15348	AT rich interactive domain 3C (BRIGHT- like)				ENSP00000368189		7-Apr									COSM3413624	7-Apr	.		ENST00000378909	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	ENSG00000205143	g.chr9:34623425T>C	21209			MODERATE		2.24	medium	getma.org/?cm=msa&ty=f&p=ARI3C_HUMAN&rb=230&re=410&var=K288E	NA	getma.org/?cm=var&var=hg19,9,34623425,T,C&fts=all	K288E	--	--	1																																		DCTN3_uc003zuw.1_5'Flank|DCTN3_uc003zux.1_5'Flank	1	1		benign(0.297)	p.K288E	NM_001017363	NP_001017363		tolerated(0.05)	1	ARI3C_HUMAN	ARID3C	HGNC	A6NKF2	ARI3C_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)			4	862	-	all_epithelial(49;0.102)		UPI0000509F06	288			Pro-rich.		SNV	ARID3C,missense_variant,p.Lys288Glu,ENST00000378909,NM_001017363.1;DCTN3,upstream_gene_variant,,ENST00000447983,;DCTN3,upstream_gene_variant,,ENST00000378913,;DCTN3,upstream_gene_variant,,ENST00000341694,NM_024348.3;DCTN3,upstream_gene_variant,,ENST00000259632,NM_007234.4,NM_001281426.1;DCTN3,upstream_gene_variant,,ENST00000378916,NM_001281425.1;DCTN3,upstream_gene_variant,,ENST00000477738,NM_001281427.1;DCTN3,upstream_gene_variant,,ENST00000421919,;DCTN3,upstream_gene_variant,,ENST00000378911,;	uc011lon.1	c.862A>G	955/1411	4	4			c.862A>G						9	SNP	c.(862-864)AAA>GAA	33	33			ovary(1)	1	Broad	AT rich interactive domain 3C (BRIGHT- like)			34623425		0.592	ENSG00000205143	899	g.chr9:34623425T>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding							607.063889	KEEP	84	109	-1	37	60	84	109	-1	613.102722	37	60	0.669492	1	0	0	0	0	1	0	0	0	--	--		0	C			DCTN3_uc003zuw.1_5'Flank|DCTN3_uc003zux.1_5'Flank	245	GBM-32-4210-TP	p.K288E	T	CTCGCACCTTTCTTAATAGGG	NM_001017363	NP_001017363	34623425	A6NKF2	ARI3C_HUMAN	0	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)	4	862	-	C	C	all_epithelial(49;0.102)		Missense_Mutation	288			Pro-rich.			
ARID4A	5926		GRCh37	14	58771705	58771705	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000355431.3:c.161A>G	p.Asp54Gly	p.D54G	ENST00000355431	NM_002892.3	54	gAc/gGc	0																																																																																																																																																																																																																																												
ARID4B	51742	broad.mit.edu	GRCh37	1	235345301	235345301	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01	TCGA-06-0166-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264183.3:c.2933G>A	p.Cys978Tyr	p.C978Y	ENST00000264183	NM_016374.5	978	tGt/tAt	0			1			T	C/Y	uc001hwq.2	protein_coding	YES	CCDS31061.1			2933/3939									ovary(2)|lung(1)	3	c.(2932-2934)TGT>TAT			hmmpanther:PTHR13964:SF21,hmmpanther:PTHR13964	AT rich interactive domain 4B isoform 1				ENSP00000264183		20/24									COSM3400474	20/24	.		ENST00000264183	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	ENSG00000054267	g.chr1:235345301C>T	15550			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=ARI4B_HUMAN&rb=827&re=1026&var=C978Y	NA	getma.org/?cm=var&var=hg19,1,235345301,C,T&fts=all	C978Y	--	--	1																																		ARID4B_uc001hwr.2_Missense_Mutation_p.C892Y|ARID4B_uc001hws.3_Missense_Mutation_p.C892Y|ARID4B_uc001hwp.2_RNA|ARID4B_uc001hwt.3_Missense_Mutation_p.C659Y	1	1		benign(0.165)	p.C978Y	NM_016374	NP_057458		tolerated_low_confidence(0.06)	1	ARI4B_HUMAN	ARID4B	HGNC	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)				20	3431	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	UPI00000437FE	978					SNV	ARID4B,missense_variant,p.Cys978Tyr,ENST00000264183,NM_016374.5;ARID4B,missense_variant,p.Cys978Tyr,ENST00000366603,NM_001206794.1;ARID4B,missense_variant,p.Cys892Tyr,ENST00000349213,NM_031371.3;ARID4B,missense_variant,p.Cys378Tyr,ENST00000444620,;ARID4B,upstream_gene_variant,,ENST00000494543,;ARID4B,missense_variant,p.Cys978Tyr,ENST00000421364,;ARID4B,missense_variant,p.Cys292Tyr,ENST00000474953,;ARID4B,non_coding_transcript_exon_variant,,ENST00000471257,;ARID4B,non_coding_transcript_exon_variant,,ENST00000491632,;	uc001hwq.2	c.2933G>A	3431/6067	2	2			c.2933G>A						1	SNP	c.(2932-2934)TGT>TAT	41	41			ovary(2)|lung(1)	3	Broad	AT rich interactive domain 4B isoform 1			235345301		0.493	ENSG00000054267	901	g.chr1:235345301C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding							-70.396271	KEEP	3	3	-1	165	164	3	3	-1	8.014432	165	164	0.019802	1	0	0	0	0	1	0	0	0	--	--		0	T			ARID4B_uc001hwr.2_Missense_Mutation_p.C892Y|ARID4B_uc001hws.3_Missense_Mutation_p.C892Y|ARID4B_uc001hwp.2_RNA|ARID4B_uc001hwt.3_Missense_Mutation_p.C659Y	31	GBM-06-0166-TP	p.C978Y	C	ACTGGGTGAACAACTCTCCTC	NM_016374	NP_057458	235345301	Q4LE39	ARI4B_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		20	3431	-	T	T	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	Missense_Mutation	978						
ARID4B	51742		GRCh37	1	235377267	235377269	+	inframe_deletion	In_Frame_Del	DEL	TCT	TCT	-			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000264183.3:c.1656_1658del	p.Glu553del	p.E553del	ENST00000264183	NM_016374.5	552	gaAGAg/gag	0																																																																																																																																																																																																																																												
ARID5B	0	broad.mit.edu	GRCh37	10	63816874	63816874	+	splice_acceptor_variant	Splice_Site	SNP	A	A	C			TCGA-32-2495-01	TCGA-32-2495-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000279873.7:c.847-2A>C		p.X283_splice	ENST00000279873	NM_032199.2			0			1			C		uc001jlt.1	protein_coding	YES	CCDS31208.1			847/3567									ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	c.e6-2				AT rich interactive domain 5B (MRF1-like)				ENSP00000279873											COSM3747856,COSM3747857		.		ENST00000279873	Transcript	1		liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	ENSG00000150347	g.chr10:63816874A>C	17362			HIGH	9-May							--	--	1																																		ARID5B_uc001jlu.1_Splice_Site_p.V40_splice	1,1	1			p.V283_splice	NM_032199	NP_115575			1,1	ARI5B_HUMAN	ARID5B	HGNC	Q14865	ARI5B_HUMAN					6	873	+	Prostate(12;0.016)|all_hematologic(501;0.215)		UPI00001606F0						SNV	ARID5B,splice_acceptor_variant,,ENST00000279873,NM_032199.2;ARID5B,splice_acceptor_variant,,ENST00000309334,NM_001244638.1;	uc001jlt.1	c.847_splice	-/7891	5	3			c.847_splice						10	SNP	c.e6-2	8	8			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	Broad	AT rich interactive domain 5B (MRF1-like)			63816874		0.448	ENSG00000150347	903	g.chr10:63816874A>C	liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding							0.624427	KEEP	0	2	-1	16	15	0	2	-1	6.733963	16	15	0.064516	1	0	0	0	0	0	0	0	1	--	--		0	C			ARID5B_uc001jlu.1_Splice_Site_p.V40_splice	237	GBM-32-2495-TP	p.V283_splice	A	TCCCTTTTCCAGGTGAAATGT	NM_032199	NP_115575	63816874	Q14865	ARI5B_HUMAN	0			6	873	+	C	C	Prostate(12;0.016)|all_hematologic(501;0.215)		Splice_Site							
ARIH2	0	broad.mit.edu	GRCh37	3	48965232	48965232	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-41-3392-01	TCGA-41-3392-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356401.4:c.241G>T	p.Ala81Ser	p.A81S	ENST00000356401	NM_006321.2	81	Gct/Tct	0			1			T	A/S	uc003cvb.2	protein_coding	YES	CCDS2780.1			241/1482									ovary(1)	1	c.(241-243)GCT>TCT			hmmpanther:PTHR11685,hmmpanther:PTHR11685:SF117	ariadne homolog 2				ENSP00000348769		16-Mar									COSM3408730	16-Mar	.		ENST00000356401	Transcript			developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000177479	g.chr3:48965232G>T	690			MODERATE		0.14	neutral	getma.org/?cm=msa&ty=f&p=ARI2_HUMAN&rb=1&re=200&var=A81S	NA	getma.org/?cm=var&var=hg19,3,48965232,G,T&fts=all	A81S	--	--	1																																		ARIH2_uc003cvc.2_Missense_Mutation_p.A81S|ARIH2_uc003cvf.2_5'UTR|ARIH2_uc010hkl.2_Missense_Mutation_p.A81S|ARIH2_uc003cvd.1_Missense_Mutation_p.A81S|ARIH2_uc003cve.1_Missense_Mutation_p.A81S	1	1		benign(0.001)	p.A81S	NM_006321	NP_006312		tolerated(1)	1	ARI2_HUMAN	ARIH2	HGNC	O95376	ARI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)	Q6IBL8_HUMAN,C9JZ71_HUMAN,C9JCL4_HUMAN,C9JBC5_HUMAN,C9JAU2_HUMAN		3	553	+			UPI0000125EDA	81					SNV	ARIH2,missense_variant,p.Ala81Ser,ENST00000356401,NM_006321.2;ARIH2,missense_variant,p.Ala81Ser,ENST00000449376,;ARIH2,missense_variant,p.Ala81Ser,ENST00000420814,;ARIH2,missense_variant,p.Ala81Ser,ENST00000430423,;ARIH2,missense_variant,p.Ala81Ser,ENST00000449729,;ARIH2,missense_variant,p.Ala81Ser,ENST00000452882,;ARIH2,downstream_gene_variant,,ENST00000433170,;ARIH2,non_coding_transcript_exon_variant,,ENST00000484999,;ARIH2,non_coding_transcript_exon_variant,,ENST00000463204,;ARIH2,non_coding_transcript_exon_variant,,ENST00000470296,;ARIH2,non_coding_transcript_exon_variant,,ENST00000495507,;ARIH2,intron_variant,,ENST00000490095,;ARIH2,intron_variant,,ENST00000474936,;ARIH2,intron_variant,,ENST00000483333,;ARIH2,intron_variant,,ENST00000498314,;ARIH2,intron_variant,,ENST00000495761,;ARIH2,intron_variant,,ENST00000474618,;ARIH2,intron_variant,,ENST00000482427,;ARIH2,intron_variant,,ENST00000488963,;ARIH2,intron_variant,,ENST00000478224,;ARIH2,intron_variant,,ENST00000486316,;ARIH2,missense_variant,p.Ala81Ser,ENST00000452385,;ARIH2,non_coding_transcript_exon_variant,,ENST00000466850,;ARIH2,downstream_gene_variant,,ENST00000492077,;ARIH2,downstream_gene_variant,,ENST00000463738,;	uc003cvb.2	c.241G>T	580/4933	1	1			c.241G>T						3	SNP	c.(241-243)GCT>TCT	13	13			ovary(1)	1	Broad	ariadne homolog 2			48965232		0.483	ENSG00000177479	905	g.chr3:48965232G>T	developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding							89.123285	KEEP	20	22	0.476190476	40	50	20	22	0.476190476	93.655209	40	50	0.289474	1	0	0	0	0	1	0	0	0	--	--		0	T			ARIH2_uc003cvc.2_Missense_Mutation_p.A81S|ARIH2_uc003cvf.2_5'UTR|ARIH2_uc010hkl.2_Missense_Mutation_p.A81S|ARIH2_uc003cvd.1_Missense_Mutation_p.A81S|ARIH2_uc003cve.1_Missense_Mutation_p.A81S	254	GBM-41-3392-TP	p.A81S	G	GACCAGCTTAGCTTCTGTCCT	NM_006321	NP_006312	48965232	O95376	ARI2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)	3	553	+	T	T			Missense_Mutation	81						
ARL1	0	broad.mit.edu	GRCh37	12	101794864	101794864	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-14-0740-01	TCGA-14-0740-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261636.8:c.312A>T	p.Lys104Asn	p.K104N	ENST00000261636	NM_001177.4	104	aaA/aaT	0			1			A	K/N	uc001tib.2	protein_coding	YES	CCDS44958.1			312/546									central_nervous_system(1)	1	c.(310-312)AAA>AAT			PROSITE_profiles:PS51417,hmmpanther:PTHR11711:SF41,hmmpanther:PTHR11711,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,Pfam_domain:PF00025,SMART_domains:SM00178,SMART_domains:SM00175,SMART_domains:SM00177,Superfamily_domains:SSF52540	ADP-ribosylation factor-like 1				ENSP00000261636		6-Apr									COSM3398252	6-Apr	.		ENST00000261636	Transcript			small GTPase mediated signal transduction	Golgi membrane	enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding	ENSG00000120805	g.chr12:101794864T>A	692			MODERATE		3.39	medium	getma.org/?cm=msa&ty=f&p=ARL1_HUMAN&rb=5&re=177&var=K104N	getma.org/pdb.php?prot=ARL1_HUMAN&from=5&to=177&var=K104N	getma.org/?cm=var&var=hg19,12,101794864,T,A&fts=all	K104N	--	--	1																																		ARL1_uc010svn.1_Missense_Mutation_p.K58N|ARL1_uc010svo.1_RNA|ARL1_uc001tic.2_Missense_Mutation_p.K104N	1	1		benign(0.402)	p.K104N	NM_001177	NP_001168		deleterious(0.02)	1	ARL1_HUMAN	ARL1	HGNC	P40616	ARL1_HUMAN		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)	F8W1Z8_HUMAN,B4DWW1_HUMAN		4	461	-		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)	UPI0000125EE1	104					SNV	ARL1,missense_variant,p.Lys104Asn,ENST00000261636,NM_001177.4;ARL1,missense_variant,p.Lys87Asn,ENST00000536227,;ARL1,missense_variant,p.Lys58Asn,ENST00000539055,;ARL1,missense_variant,p.Lys104Asn,ENST00000551671,;ARL1,missense_variant,p.Lys87Asn,ENST00000551828,;ARL1,intron_variant,,ENST00000551688,;ARL1,downstream_gene_variant,,ENST00000548070,;ARL1,non_coding_transcript_exon_variant,,ENST00000549283,;ARL1,downstream_gene_variant,,ENST00000549302,;ARL1,3_prime_UTR_variant,,ENST00000551092,;ARL1,non_coding_transcript_exon_variant,,ENST00000550597,;	uc001tib.2	c.312A>T	487/3241	2	2			c.312A>T						12	SNP	c.(310-312)AAA>AAT	47	47			central_nervous_system(1)	1	Broad	ADP-ribosylation factor-like 1			101794864		0.348	ENSG00000120805	906	g.chr12:101794864T>A	small GTPase mediated signal transduction	Golgi membrane	enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding							85.719519	KEEP	15	17	-1	38	34	15	17	-1	88.584844	38	34	0.315789	1	0	0	0	0	1	0	0	0	--	--		0	A			ARL1_uc010svn.1_Missense_Mutation_p.K58N|ARL1_uc010svo.1_RNA|ARL1_uc001tic.2_Missense_Mutation_p.K104N	132	GBM-14-0740-TP	p.K104N	T	CTAACTCTGATTTGGAAATGC	NM_001177	NP_001168	101794864	P40616	ARL1_HUMAN	0		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)	4	461	-	A	A		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)	Missense_Mutation	104						
ARL11	115761	broad.mit.edu	GRCh37	13	50204952	50204952	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0879-01	TCGA-06-0879-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282026.1:c.369G>A	p.Lys123=	p.K123=	ENST00000282026	NM_138450.5	123	aaG/aaA	0			1			A	K	uc001vdf.1	protein_coding	YES	CCDS9419.1			369/591										0	c.(367-369)AAG>AAA			PROSITE_profiles:PS51417,hmmpanther:PTHR11711,hmmpanther:PTHR11711:SF24,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00025,Gene3D:3.40.50.300,SMART_domains:SM00177,SMART_domains:SM00178,Superfamily_domains:SSF52540,Prints_domain:PR00328	ADP-ribosylation factor-like 11				ENSP00000282026		2-Feb									COSM2152286	2-Feb	.		ENST00000282026	Transcript	1		small GTPase mediated signal transduction	intracellular	GTP binding|protein binding	ENSG00000152213	g.chr13:50204952G>A	24046			LOW								--	--	1																																			1	1			p.K123K	NM_138450	NP_612459			1	ARL11_HUMAN	ARL11	HGNC	Q969Q4	ARL11_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)			2	515	+		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	UPI0000073EDE	123			GTP (By similarity).		SNV	ARL11,synonymous_variant,p.=,ENST00000282026,NM_138450.5;ARL11,intron_variant,,ENST00000490932,;	uc001vdf.1	c.369G>A	704/3760	2	2			c.369G>A						13	SNP	c.(367-369)AAG>AAA	26	26				0	Broad	ADP-ribosylation factor-like 11			50204952		0.602	ENSG00000152213	908	g.chr13:50204952G>A	small GTPase mediated signal transduction	intracellular	GTP binding|protein binding							184.694318	KEEP	27	39	-1	38	68	27	39	-1	186.328808	38	68	0.392638	1	0	0	0	0	0	0	1	0	--	--		0	A				75	GBM-06-0879-TP	p.K123K	G	TGGCCAACAAGCAGGAGGCAC	NM_138450	NP_612459	50204952	Q969Q4	ARL11_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)	2	515	+	A	A		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	Silent	123			GTP (By similarity).			
ARL13A	392509		GRCh37	X	100240808	100240808	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000450049.2:c.283G>A	p.Val95Ile	p.V95I	ENST00000450049	NM_001162491.1	95	Gtc/Atc	0																																																																																																																																																																																																																																												
ARL14	0	broad.mit.edu	GRCh37	3	160395695	160395695	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-1836-01	TCGA-27-1836-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320767.2:c.561G>A	p.Ala187=	p.A187=	ENST00000320767	NM_025047.2	187	gcG/gcA	0			1			A	A	uc003fdq.2	protein_coding	YES	CCDS3192.1			561/579										0	c.(559-561)GCG>GCA				ADP-ribosylation factor-like 14				ENSP00000323847		1-Jan	2.47E-05	0.0001		0.000117					rs773857380,COSM334510	1-Jan	.		ENST00000320767	Transcript			small GTPase mediated signal transduction	intracellular	GTP binding	ENSG00000179674	g.chr3:160395695G>A	22974			LOW								--	--	1																																			0,1	1			p.A187A	NM_025047	NP_079323			0,1	ARL14_HUMAN	ARL14	HGNC	Q8N4G2	ARL14_HUMAN	Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)				1	748	+			UPI000007256C	187					SNV	ARL14,synonymous_variant,p.=,ENST00000320767,NM_025047.2;	uc003fdq.2	c.561G>A	748/1286	2	2			c.561G>A						3	SNP	c.(559-561)GCG>GCA	21	21				0	Broad	ADP-ribosylation factor-like 14			160395695		0.473	ENSG00000179674	911	g.chr3:160395695G>A	small GTPase mediated signal transduction	intracellular	GTP binding							63.166594	KEEP	11	14	-1	33	29	11	14	-1	66.173856	33	29	0.296296	1	0	0	0	0	0	0	1	0	--	--		0	A				195	GBM-27-1836-TP	p.A187A	G	ACACTTTGGCGTTCTTCAAGC	NM_025047	NP_079323	160395695	Q8N4G2	ARL14_HUMAN	0	Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)		1	748	+	A	A			Silent	187						
ARL6	84100	broad.mit.edu	GRCh37	3	97506846	97506846	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000463745.1:c.362G>A	p.Arg121His	p.R121H	ENST00000463745	NM_001278293.1	121	cGt/cAt	0			1			A	R/H	uc003drv.2	protein_coding		CCDS2928.1			362/561						likely_pathogenic				0	c.(361-363)CGT>CAT			Gene3D:3.40.50.300,Pfam_domain:PF00025,PROSITE_profiles:PS51417,hmmpanther:PTHR11711,hmmpanther:PTHR11711:SF21,SMART_domains:SM00177,SMART_domains:SM00178,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231	ADP-ribosylation factor-like 6				ENSP00000337722		9-Jul	6.59E-05					0.000121			rs765715798,COSM2151836	9-Jul	.	Bardet-Biedl_syndrome	ENST00000335979	Transcript	1		cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding	ENSG00000113966	g.chr3:97506846G>A	13210			MODERATE		2.265	medium	getma.org/?cm=msa&ty=f&p=ARL6_HUMAN&rb=4&re=181&var=R121H	getma.org/pdb.php?prot=ARL6_HUMAN&from=4&to=181&var=R121H	getma.org/?cm=var&var=hg19,3,97506846,G,A&fts=all	R121H	--	--	1																																		ARL6_uc003drw.2_RNA|ARL6_uc003dru.2_Missense_Mutation_p.R121H|ARL6_uc010hoy.2_Missense_Mutation_p.R121H	1,1			possibly_damaging(0.749)	p.R121H	NM_177976	NP_816931		deleterious(0)	0,1	ARL6_HUMAN	ARL6	HGNC	Q9H0F7	ARL6_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)	C9IZ13_HUMAN		7	675	+		Lung NSC(201;0.0193)|Prostate(884;0.174)	UPI0000037CC9	121					SNV	ARL6,missense_variant,p.Arg121His,ENST00000463745,NM_001278293.1;ARL6,missense_variant,p.Arg121His,ENST00000335979,NM_032146.4;ARL6,missense_variant,p.Arg121His,ENST00000394206,NM_177976.2;ARL6,missense_variant,p.Arg121His,ENST00000462412,;ARL6,missense_variant,p.Arg16His,ENST00000476753,;ARL6,non_coding_transcript_exon_variant,,ENST00000496713,;ARL6,missense_variant,p.Arg121His,ENST00000493990,;	uc003drv.2	c.362G>A	715/1390	2	2			c.362G>A						3	SNP	c.(361-363)CGT>CAT	26	26				0	Broad	ADP-ribosylation factor-like 6			97506846	Bardet-Biedl_syndrome	0.323	ENSG00000113966	922	g.chr3:97506846G>A	cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding							70.982115	KEEP	14	10	-1	12	4	14	10	-1	71.288309	12	4	0.6	1	0	0	0	0	1	0	0	0	--	--		0	A			ARL6_uc003drw.2_RNA|ARL6_uc003dru.2_Missense_Mutation_p.R121H|ARL6_uc010hoy.2_Missense_Mutation_p.R121H	68	GBM-06-0747-TP	p.R121H	G	ATTAAACACCGTCGAATTCCA	NM_177976	NP_816931	97506846	Q9H0F7	ARL6_HUMAN	0		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)	7	675	+	A	A		Lung NSC(201;0.0193)|Prostate(884;0.174)	Missense_Mutation	121						
ARL6	84100		GRCh37	3	97499015	97499015	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000463745.1:c.136A>T	p.Asn46Tyr	p.N46Y	ENST00000463745	NM_001278293.1	46	Aat/Tat	0																																																																																																																																																																																																																																												
ARL8B	55207	broad.mit.edu	GRCh37	3	5214343	5214343	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0241-01	TCGA-06-0241-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256496.3:c.290A>G	p.Asp97Gly	p.D97G	ENST00000256496	NM_018184.2	97	gAt/gGt	0			1			G	D/G	uc003bqg.2	protein_coding	YES	CCDS2566.1			290/561										0	c.(289-291)GAT>GGT			PROSITE_profiles:PS51417,hmmpanther:PTHR11711:SF112,hmmpanther:PTHR11711,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00025,Gene3D:3.40.50.300,SMART_domains:SM00175,SMART_domains:SM00177,SMART_domains:SM00173,SMART_domains:SM00178,Superfamily_domains:SSF52540,Prints_domain:PR00328	ADP-ribosylation factor-like 10C				ENSP00000256496		7-Apr									COSM2151120,COSM2151121	7-Apr	.		ENST00000256496	Transcript			cell cycle|cell division|chromosome segregation|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GDP binding|GTP binding|GTPase activity	ENSG00000134108	g.chr3:5214343A>G	25564			MODERATE		4.54	high	getma.org/?cm=msa&ty=f&p=ARL8B_HUMAN&rb=8&re=181&var=D97G	getma.org/pdb.php?prot=ARL8B_HUMAN&from=8&to=181&var=D97G	getma.org/?cm=var&var=hg19,3,5214343,A,G&fts=all	D97G	--	--	1																																		ARL8B_uc011asx.1_Missense_Mutation_p.D88G|ARL8B_uc011asy.1_Missense_Mutation_p.D97G	1,1	1		probably_damaging(0.998)	p.D97G	NM_018184	NP_060654		deleterious(0)	1,1	ARL8B_HUMAN	ARL8B	HGNC	Q9NVJ2	ARL8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)	B4E1J8_HUMAN,B4DQT8_HUMAN		4	511	+			UPI00000233C0	97					SNV	ARL8B,missense_variant,p.Asp97Gly,ENST00000256496,NM_018184.2;ARL8B,missense_variant,p.Asp97Gly,ENST00000419534,;AC026202.3,intron_variant,,ENST00000439325,;ARL8B,intron_variant,,ENST00000468010,;ARL8B,3_prime_UTR_variant,,ENST00000455168,;ARL8B,3_prime_UTR_variant,,ENST00000429403,;ARL8B,downstream_gene_variant,,ENST00000444332,;ARL8B,upstream_gene_variant,,ENST00000476343,;	uc003bqg.2	c.290A>G	536/3005	3	3			c.290A>G						3	SNP	c.(289-291)GAT>GGT	59	59				0	Broad	ADP-ribosylation factor-like 10C			5214343		0.323	ENSG00000134108	928	g.chr3:5214343A>G	cell cycle|cell division|chromosome segregation|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GDP binding|GTP binding|GTPase activity							224.912801	KEEP	41	31	-1	47	43	41	31	-1	225.217069	47	43	0.45	1	0	0	0	0	1	0	0	0	--	--		0	G			ARL8B_uc011asx.1_Missense_Mutation_p.D88G|ARL8B_uc011asy.1_Missense_Mutation_p.D97G	57	GBM-06-0241-TP	p.D97G	A	TACATGATAGATGCTGCAGAT	NM_018184	NP_060654	5214343	Q9NVJ2	ARL8B_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)	4	511	+	G	G			Missense_Mutation	97						
ARMC1	55156		GRCh37	8	66534548	66534548	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000276569.3:c.225G>C	p.Lys75Asn	p.K75N	ENST00000276569	NM_018120.4	75	aaG/aaC	0																																																																																																																																																																																																																																												
ARMC3	219681	broad.mit.edu	GRCh37	10	23250972	23250972	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01	TCGA-02-0055-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298032.5:c.697G>A	p.Gly233Arg	p.G233R	ENST00000298032	NM_173081.3	233	Gga/Aga	0			1			A	G/R	uc001irm.3	protein_coding	YES	CCDS7142.1			697/2619										0	c.(697-699)GGA>AGA			Superfamily_domains:SSF48371,SMART_domains:SM00185,Pfam_domain:PF13646,Gene3D:1.25.10.10,hmmpanther:PTHR23315:SF48,hmmpanther:PTHR23315	armadillo repeat containing 3				ENSP00000298032		19-Jul									COSM2149031,COSM3397048	19-Jul	.		ENST00000298032	Transcript					binding	ENSG00000165309	g.chr10:23250972G>A	30964			MODERATE		2.62	medium	getma.org/?cm=msa&ty=f&p=ARMC3_HUMAN&rb=152&re=258&var=G233R	NA	getma.org/?cm=var&var=hg19,10,23250972,G,A&fts=all	G233R	--	--	1																																		ARMC3_uc010qcv.1_Missense_Mutation_p.G233R|ARMC3_uc010qcw.1_Intron	1,1	1		probably_damaging(1)	p.G233R	NM_173081	NP_775104		deleterious(0.01)	1,1	ARMC3_HUMAN	ARMC3	HGNC	Q5W041	ARMC3_HUMAN			C9JC46_HUMAN,B4DXS3_HUMAN		7	780	+			UPI0000161785	233			ARM 6.		SNV	ARMC3,missense_variant,p.Gly233Arg,ENST00000298032,NM_173081.3;ARMC3,missense_variant,p.Gly233Arg,ENST00000409983,NM_001282745.1;ARMC3,missense_variant,p.Gly233Arg,ENST00000409049,NM_001282746.1;ARMC3,intron_variant,,ENST00000376528,NM_001282747.1;ARMC3,downstream_gene_variant,,ENST00000447081,;ARMC3,non_coding_transcript_exon_variant,,ENST00000484642,;ARMC3,non_coding_transcript_exon_variant,,ENST00000483596,;ARMC3,intron_variant,,ENST00000468003,;ARMC3,intron_variant,,ENST00000496741,;ARMC3,downstream_gene_variant,,ENST00000464017,;	uc001irm.3	c.697G>A	781/2811	2	2			c.697G>A						10	SNP	c.(697-699)GGA>AGA	45	45				0	Broad	armadillo repeat containing 3			23250972		0.358	ENSG00000165309	933	g.chr10:23250972G>A			binding							104.288217	KEEP	10	22	-1	12	9	10	22	-1	104.739252	12	9	0.6	1	0	0	0	0	1	0	0	0	--	--		0	A			ARMC3_uc010qcv.1_Missense_Mutation_p.G233R|ARMC3_uc010qcw.1_Intron	4	GBM-02-0055-TP	p.G233R	G	AGACAATCAAGGATTGGACCA	NM_173081	NP_775104	23250972	Q5W041	ARMC3_HUMAN	0			7	780	+	A	A			Missense_Mutation	233			ARM 6.			
ARMC3	219681	broad.mit.edu	GRCh37	10	23297794	23297794	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0882-01	TCGA-06-0882-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298032.5:c.1979A>G	p.Lys660Arg	p.K660R	ENST00000298032	NM_173081.3	660	aAa/aGa	0			1			G	K/R	uc001irm.3	protein_coding	YES	CCDS7142.1			1979/2619										0	c.(1978-1980)AAA>AGA			hmmpanther:PTHR23315:SF48,hmmpanther:PTHR23315	armadillo repeat containing 3				ENSP00000298032		16/19									COSM2152352,COSM3397051	16/19	.		ENST00000298032	Transcript					binding	ENSG00000165309	g.chr10:23297794A>G	30964			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=ARMC3_HUMAN&rb=620&re=711&var=K660R	NA	getma.org/?cm=var&var=hg19,10,23297794,A,G&fts=all	K660R	--	--	1																																		ARMC3_uc010qcv.1_Missense_Mutation_p.K653R|ARMC3_uc010qcw.1_Missense_Mutation_p.K397R	1,1	1		benign(0.065)	p.K660R	NM_173081	NP_775104		tolerated(0.13)	1,1	ARMC3_HUMAN	ARMC3	HGNC	Q5W041	ARMC3_HUMAN			C9JC46_HUMAN,B4DXS3_HUMAN		16	2062	+			UPI0000161785	660					SNV	ARMC3,missense_variant,p.Lys660Arg,ENST00000298032,NM_173081.3;ARMC3,missense_variant,p.Lys653Arg,ENST00000409983,NM_001282745.1;ARMC3,missense_variant,p.Lys660Arg,ENST00000409049,NM_001282746.1;ARMC3,missense_variant,p.Lys397Arg,ENST00000376528,NM_001282747.1;ARMC3,downstream_gene_variant,,ENST00000491803,;	uc001irm.3	c.1979A>G	2063/2811	4	4			c.1979A>G						10	SNP	c.(1978-1980)AAA>AGA	20	20				0	Broad	armadillo repeat containing 3			23297794		0.378	ENSG00000165309	933	g.chr10:23297794A>G			binding							64.949908	KEEP	8	12	-1	12	9	8	12	-1	64.972634	12	9	0.473684	1	0	0	0	0	1	0	0	0	--	--		0	G			ARMC3_uc010qcv.1_Missense_Mutation_p.K653R|ARMC3_uc010qcw.1_Missense_Mutation_p.K397R	77	GBM-06-0882-TP	p.K660R	A	ATAGAAGACAAATCAGAGCCA	NM_173081	NP_775104	23297794	Q5W041	ARMC3_HUMAN	0			16	2062	+	G	G			Missense_Mutation	660						
ARMC3	0	broad.mit.edu	GRCh37	10	23287264	23287264	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-6450-01	TCGA-28-6450-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298032.5:c.1363G>A	p.Val455Met	p.V455M	ENST00000298032	NM_173081.3	455	Gtg/Atg	0			1			A	V/M	uc001irm.3	protein_coding	YES	CCDS7142.1			1363/2619										0	c.(1363-1365)GTG>ATG			Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR23315:SF48,hmmpanther:PTHR23315	armadillo repeat containing 3				ENSP00000298032		19-Nov	1.65E-05		9.18E-05					6.42E-05	rs746655428,COSM3397049,COSM3397050	19-Nov	.		ENST00000298032	Transcript					binding	ENSG00000165309	g.chr10:23287264G>A	30964			MODERATE		2.585	medium	getma.org/?cm=msa&ty=f&p=ARMC3_HUMAN&rb=424&re=468&var=V455M	NA	getma.org/?cm=var&var=hg19,10,23287264,G,A&fts=all	V455M	--	--	1																																		ARMC3_uc010qcv.1_Missense_Mutation_p.V455M|ARMC3_uc010qcw.1_Missense_Mutation_p.V192M	0,1,1	1		possibly_damaging(0.901)	p.V455M	NM_173081	NP_775104		deleterious(0)	0,1,1	ARMC3_HUMAN	ARMC3	HGNC	Q5W041	ARMC3_HUMAN			C9JC46_HUMAN,B4DXS3_HUMAN		11	1446	+			UPI0000161785	455			ARM 11.		SNV	ARMC3,missense_variant,p.Val455Met,ENST00000298032,NM_173081.3;ARMC3,missense_variant,p.Val455Met,ENST00000409983,NM_001282745.1;ARMC3,missense_variant,p.Val455Met,ENST00000409049,NM_001282746.1;ARMC3,missense_variant,p.Val192Met,ENST00000376528,NM_001282747.1;RNA5SP304,downstream_gene_variant,,ENST00000411199,;	uc001irm.3	c.1363G>A	1447/2811	2	2			c.1363G>A						10	SNP	c.(1363-1365)GTG>ATG	25	25				0	Broad	armadillo repeat containing 3			23287264		0.498	ENSG00000165309	933	g.chr10:23287264G>A			binding							7.12103	KEEP	2	1	-1	5	3	2	1	-1	7.478776	5	3	0.3	1	0	0	0	0	1	0	0	0	--	--		0	A			ARMC3_uc010qcv.1_Missense_Mutation_p.V455M|ARMC3_uc010qcw.1_Missense_Mutation_p.V192M	227	GBM-28-6450-TP	p.V455M	G	AAACACAGTCGTGCAGAGCAA	NM_173081	NP_775104	23287264	Q5W041	ARMC3_HUMAN	0			11	1446	+	A	A			Missense_Mutation	455			ARM 11.			
ARMC3	0	broad.mit.edu	GRCh37	10	23235138	23235138	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-32-4211-01	TCGA-32-4211-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298032.5:c.114A>G	p.Glu38=	p.E38=	ENST00000298032	NM_173081.3	38	gaA/gaG	0			1			G	E	uc001irm.3	protein_coding	YES	CCDS7142.1			114/2619										0	c.(112-114)GAA>GAG			Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR23315:SF48,hmmpanther:PTHR23315	armadillo repeat containing 3				ENSP00000298032		19-Mar									COSM3397046,COSM3397047	19-Mar	.		ENST00000298032	Transcript					binding	ENSG00000165309	g.chr10:23235138A>G	30964			LOW								--	--	1																																		ARMC3_uc010qcv.1_Silent_p.E38E|ARMC3_uc010qcw.1_Intron	1,1	1			p.E38E	NM_173081	NP_775104			1,1	ARMC3_HUMAN	ARMC3	HGNC	Q5W041	ARMC3_HUMAN			C9JC46_HUMAN,B4DXS3_HUMAN		3	197	+			UPI0000161785	38			ARM 1.		SNV	ARMC3,synonymous_variant,p.=,ENST00000298032,NM_173081.3;ARMC3,synonymous_variant,p.=,ENST00000409983,NM_001282745.1;ARMC3,synonymous_variant,p.=,ENST00000409049,NM_001282746.1;ARMC3,intron_variant,,ENST00000376528,NM_001282747.1;ARMC3,intron_variant,,ENST00000447081,;ARMC3,non_coding_transcript_exon_variant,,ENST00000483596,;ARMC3,non_coding_transcript_exon_variant,,ENST00000468003,;ARMC3,intron_variant,,ENST00000484642,;ARMC3,intron_variant,,ENST00000496741,;ARMC3,non_coding_transcript_exon_variant,,ENST00000465729,;	uc001irm.3	c.114A>G	198/2811	3	3			c.114A>G						10	SNP	c.(112-114)GAA>GAG	49	49				0	Broad	armadillo repeat containing 3			23235138		0.303	ENSG00000165309	933	g.chr10:23235138A>G			binding							15.639983	KEEP	6	6	-1	50	68	6	6	-1	33.22006	50	68	0.1	1	0	0	0	0	0	0	1	0	--	--		0	G			ARMC3_uc010qcv.1_Silent_p.E38E|ARMC3_uc010qcw.1_Intron	246	GBM-32-4211-TP	p.E38E	A	ATTCTCCAGAAGAGGAAATTT	NM_173081	NP_775104	23235138	Q5W041	ARMC3_HUMAN	0			3	197	+	G	G			Silent	38			ARM 1.			
ARMC3	0	broad.mit.edu	GRCh37	10	23321938	23321938	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-41-5651-01	TCGA-41-5651-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298032.5:c.2395G>T	p.Ala799Ser	p.A799S	ENST00000298032	NM_173081.3	799	Gct/Tct	0			1			T	A/S	uc001irm.3	protein_coding	YES	CCDS7142.1			2395/2619										0	c.(2395-2397)GCT>TCT			Pfam_domain:PF14381,hmmpanther:PTHR23315:SF48,hmmpanther:PTHR23315	armadillo repeat containing 3				ENSP00000298032		18/19									COSM3397052	18/19	.		ENST00000298032	Transcript					binding	ENSG00000165309	g.chr10:23321938G>T	30964			MODERATE		2.285	medium	getma.org/?cm=msa&ty=f&p=ARMC3_HUMAN&rb=719&re=860&var=A799S	NA	getma.org/?cm=var&var=hg19,10,23321938,G,T&fts=all	A799S	--	--	1																																		ARMC3_uc010qcv.1_Missense_Mutation_p.A792S|ARMC3_uc010qcw.1_Missense_Mutation_p.A536S	1	1		probably_damaging(0.999)	p.A799S	NM_173081	NP_775104		deleterious(0)	1	ARMC3_HUMAN	ARMC3	HGNC	Q5W041	ARMC3_HUMAN			C9JC46_HUMAN,B4DXS3_HUMAN		18	2478	+			UPI0000161785	799					SNV	ARMC3,missense_variant,p.Ala799Ser,ENST00000298032,NM_173081.3;ARMC3,missense_variant,p.Ala792Ser,ENST00000409983,NM_001282745.1;ARMC3,missense_variant,p.Ala536Ser,ENST00000376528,NM_001282747.1;ARMC3,downstream_gene_variant,,ENST00000473919,;	uc001irm.3	c.2395G>T	2479/2811	2	2			c.2395G>T						10	SNP	c.(2395-2397)GCT>TCT	45	45				0	Broad	armadillo repeat containing 3			23321938		0.353	ENSG00000165309	933	g.chr10:23321938G>T			binding							-2.348809	KEEP	0	5	-1	25	33	0	5	-1	8.522328	25	33	0.070175	1	0	0	0	0	1	0	0	0	--	--		0	T			ARMC3_uc010qcv.1_Missense_Mutation_p.A792S|ARMC3_uc010qcw.1_Missense_Mutation_p.A536S	258	GBM-41-5651-TP	p.A799S	G	CTACCATCGAGCTTTGCTTTT	NM_173081	NP_775104	23321938	Q5W041	ARMC3_HUMAN	0			18	2478	+	T	T			Missense_Mutation	799						
ARMC4	55130	broad.mit.edu	GRCh37	10	28229528	28229528	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0174-01	TCGA-06-0174-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305242.5:c.1950T>G	p.Ile650Met	p.I650M	ENST00000305242	NM_018076.2	650	atT/atG	0			1			C	I/M	uc009xky.2	protein_coding	YES	CCDS7157.1			1950/3135									ovary(4)|skin(2)	6	c.(1948-1950)ATT>ATG			hmmpanther:PTHR23315:SF67,hmmpanther:PTHR23315,Pfam_domain:PF00514,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371	armadillo repeat containing 4				ENSP00000306410		13/20									COSM3397081	13/20	.		ENST00000305242	Transcript	1				binding	ENSG00000169126	g.chr10:28229528A>C	25583			MODERATE		2.995	medium	getma.org/?cm=msa&ty=f&p=ARMC4_HUMAN&rb=604&re=844&var=I650M	getma.org/pdb.php?prot=ARMC4_HUMAN&from=604&to=844&var=I650M	getma.org/?cm=var&var=hg19,10,28229528,A,C&fts=all	I650M	--	--	1																																		ARMC4_uc010qds.1_Missense_Mutation_p.I175M|ARMC4_uc010qdt.1_Missense_Mutation_p.I342M|ARMC4_uc001itz.2_Missense_Mutation_p.I650M|ARMC4_uc010qdu.1_Missense_Mutation_p.I342M	1	1		probably_damaging(0.994)	p.I650M	NM_018076	NP_060546		deleterious(0)	1	ARMC4_HUMAN	ARMC4	HGNC	Q5T2S8	ARMC4_HUMAN			R4GN11_HUMAN,A8K906_HUMAN		13	2048	-			UPI00001A95E1	650			ARM 3.		SNV	ARMC4,missense_variant,p.Ile650Met,ENST00000305242,NM_018076.2;ARMC4,missense_variant,p.Ile342Met,ENST00000537576,;ARMC4,missense_variant,p.Ile175Met,ENST00000545014,;ARMC4,downstream_gene_variant,,ENST00000480504,;	uc009xky.2	c.1950T>G	2043/3572	3	3			c.1950T>G						10	SNP	c.(1948-1950)ATT>ATG	9	9			ovary(4)|skin(2)	6	Broad	armadillo repeat containing 4			28229528		0.473	ENSG00000169126	934	g.chr10:28229528A>C			binding							168.931363	KEEP	31	18	-1	16	25	31	18	-1	169.138609	16	25	0.552941	1	0	0	0	0	1	0	0	0	--	--		0	C			ARMC4_uc010qds.1_Missense_Mutation_p.I175M|ARMC4_uc010qdt.1_Missense_Mutation_p.I342M|ARMC4_uc001itz.2_Missense_Mutation_p.I650M|ARMC4_uc010qdu.1_Missense_Mutation_p.I342M	37	GBM-06-0174-TP	p.I650M	A	CCACCACTGGAATTAGCATGT	NM_018076	NP_060546	28229528	Q5T2S8	ARMC4_HUMAN	0			13	2048	-	C	C			Missense_Mutation	650			ARM 3.			
ARMC4	0	broad.mit.edu	GRCh37	10	28228843	28228843	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305242.5:c.2080G>A	p.Ala694Thr	p.A694T	ENST00000305242	NM_018076.2	694	Gcc/Acc	0		T:0	1	T:0.0014		T	A/T	uc009xky.2	protein_coding	YES	CCDS7157.1			2080/3135									ovary(4)|skin(2)	6	c.(2080-2082)GCC>ACC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23315:SF67,hmmpanther:PTHR23315,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371	armadillo repeat containing 4		T:0		ENSP00000306410	T:0	14/20	3.29E-05		0.000261			1.51E-05			rs556371991,COSM917476	14/20	.		ENST00000305242	Transcript	1	T:0.0002			binding	ENSG00000169126	g.chr10:28228843C>T	25583			MODERATE		3.2	medium	getma.org/?cm=msa&ty=f&p=ARMC4_HUMAN&rb=604&re=844&var=A694T	getma.org/pdb.php?prot=ARMC4_HUMAN&from=604&to=844&var=A694T	getma.org/?cm=var&var=hg19,10,28228843,C,T&fts=all	A694T	--	--	1																																		ARMC4_uc010qds.1_Missense_Mutation_p.A219T|ARMC4_uc010qdt.1_Missense_Mutation_p.A386T|ARMC4_uc001itz.2_Missense_Mutation_p.A694T	0,1	1		probably_damaging(0.998)	p.A694T	NM_018076	NP_060546	T:0	deleterious(0)	0,1	ARMC4_HUMAN	ARMC4	HGNC	Q5T2S8	ARMC4_HUMAN			R4GN11_HUMAN,A8K906_HUMAN		14	2178	-			UPI00001A95E1	694			ARM 4.|HEAT.		SNV	ARMC4,missense_variant,p.Ala694Thr,ENST00000305242,NM_018076.2;ARMC4,missense_variant,p.Ala386Thr,ENST00000537576,;ARMC4,missense_variant,p.Ala219Thr,ENST00000545014,;ARMC4,downstream_gene_variant,,ENST00000480504,;	uc009xky.2	c.2080G>A	2173/3572	2	2			c.2080G>A						10	SNP	c.(2080-2082)GCC>ACC	24	24			ovary(4)|skin(2)	6	Broad	armadillo repeat containing 4			28228843		0.458	ENSG00000169126	934	g.chr10:28228843C>T			binding							179.242053	KEEP	33	29	-1	3	2	33	29	-1	190.083365	3	2	0.918033	1	0	0	0	0	1	0	0	0	--	--		0	T			ARMC4_uc010qds.1_Missense_Mutation_p.A219T|ARMC4_uc010qdt.1_Missense_Mutation_p.A386T|ARMC4_uc001itz.2_Missense_Mutation_p.A694T	218	GBM-28-5209-TP	p.A694T	C	ATGGCCATGGCGCAGTGCTCC	NM_018076	NP_060546	28228843	Q5T2S8	ARMC4_HUMAN	0			14	2178	-	T	T			Missense_Mutation	694			ARM 4.|HEAT.			
ARMC4	0	broad.mit.edu	GRCh37	10	28283881	28283881	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01	TCGA-32-4211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305242.5:c.191C>T	p.Ala64Val	p.A64V	ENST00000305242	NM_018076.2	64	gCg/gTg	0			1			A	A/V	uc009xky.2	protein_coding	YES	CCDS7157.1			191/3135									ovary(4)|skin(2)	6	c.(190-192)GCG>GTG			hmmpanther:PTHR23315:SF67,hmmpanther:PTHR23315	armadillo repeat containing 4				ENSP00000306410		20-Feb									COSM3397083	20-Feb	.		ENST00000305242	Transcript	1				binding	ENSG00000169126	g.chr10:28283881G>A	25583			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=ARMC4_HUMAN&rb=1&re=309&var=A64V	NA	getma.org/?cm=var&var=hg19,10,28283881,G,A&fts=all	A64V	--	--	1																																		ARMC4_uc001itz.2_Missense_Mutation_p.A64V	1	1		benign(0.003)	p.A64V	NM_018076	NP_060546		tolerated(0.34)	1	ARMC4_HUMAN	ARMC4	HGNC	Q5T2S8	ARMC4_HUMAN			R4GN11_HUMAN,A8K906_HUMAN		2	289	-			UPI00001A95E1	64					SNV	ARMC4,missense_variant,p.Ala64Val,ENST00000305242,NM_018076.2;ARMC4,downstream_gene_variant,,ENST00000486279,;RP11-218D6.4,upstream_gene_variant,,ENST00000425137,;	uc009xky.2	c.191C>T	284/3572	2	2			c.191C>T						10	SNP	c.(190-192)GCG>GTG	35	35			ovary(4)|skin(2)	6	Broad	armadillo repeat containing 4			28283881		0.358	ENSG00000169126	934	g.chr10:28283881G>A			binding							-6.256741	KEEP	3	2	-1	28	53	3	2	-1	8.979696	28	53	0.054795	1	0	0	0	0	1	0	0	0	--	--		0	A			ARMC4_uc001itz.2_Missense_Mutation_p.A64V	246	GBM-32-4211-TP	p.A64V	G	TGCTGAGGGCGCCAAACTTGT	NM_018076	NP_060546	28283881	Q5T2S8	ARMC4_HUMAN	0			2	289	-	A	A			Missense_Mutation	64						
ARMC5	0	broad.mit.edu	GRCh37	16	31471307	31471307	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268314.4:c.462C>T	p.Gly154=	p.G154=	ENST00000268314	NM_001105247.1	154	ggC/ggT	0			1			T	G	uc002ecc.2	protein_coding	YES	CCDS45472.1			462/2808									pancreas(1)	1	c.(460-462)GGC>GGT			Superfamily_domains:SSF48371,SMART_domains:SM00185,Gene3D:1.25.10.10,hmmpanther:PTHR23312	armadillo repeat containing 5 isoform a				ENSP00000268314		6-Jan									COSM3402309,COSM3402308	6-Jan	.		ENST00000268314	Transcript	1				binding	ENSG00000140691	g.chr16:31471307C>T	25781			LOW								--	--	1																																		ARMC5_uc010vfn.1_Silent_p.G249G|ARMC5_uc010vfo.1_Silent_p.G186G|ARMC5_uc002eca.3_Silent_p.G154G|ARMC5_uc010vfp.1_Silent_p.G154G|ARMC5_uc002ecb.2_Silent_p.G154G	1,1	1			p.G154G	NM_001105247	NP_001098717			1,1	ARMC5_HUMAN	ARMC5	HGNC	Q96C12	ARMC5_HUMAN					1	991	+			UPI0000F6E6C0	154			ARM 1.		SNV	ARMC5,synonymous_variant,p.=,ENST00000457010,NM_024742.2;ARMC5,synonymous_variant,p.=,ENST00000408912,NM_001288767.1;ARMC5,synonymous_variant,p.=,ENST00000268314,NM_001105247.1;ARMC5,synonymous_variant,p.=,ENST00000563544,;ARMC5,synonymous_variant,p.=,ENST00000538189,;ARMC5,synonymous_variant,p.=,ENST00000564900,;ARMC5,5_prime_UTR_variant,,ENST00000412665,;RP11-452L6.5,upstream_gene_variant,,ENST00000564629,;ARMC5,upstream_gene_variant,,ENST00000564514,;	uc002ecc.2	c.462C>T	991/3612	1	1			c.462C>T						16	SNP	c.(460-462)GGC>GGT	1	1			pancreas(1)	1	Broad	armadillo repeat containing 5 isoform a			31471307		0.597	ENSG00000140691	935	g.chr16:31471307C>T			binding							107.598288	KEEP	32	23	-1	45	44	32	23	-1	109.654951	45	44	0.358974	1	0	0	0	0	0	0	1	0	--	--		0	T			ARMC5_uc010vfn.1_Silent_p.G249G|ARMC5_uc010vfo.1_Silent_p.G186G|ARMC5_uc002eca.3_Silent_p.G154G|ARMC5_uc010vfp.1_Silent_p.G154G|ARMC5_uc002ecb.2_Silent_p.G154G	159	GBM-19-1390-TP	p.G154G	C	GACTCGGAGGCATACTCCCTT	NM_001105247	NP_001098717	31471307	Q96C12	ARMC5_HUMAN	0			1	991	+	T	T			Silent	154			ARM 1.			
ARMC6	0	broad.mit.edu	GRCh37	19	19166113	19166113	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-41-2571-01	TCGA-41-2571-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392336.3:c.1063G>T	p.Ala355Ser	p.A355S	ENST00000392336		355	Gca/Tca	0			1			T	A/S	uc002nld.2	protein_coding		CCDS56089.1			1063/1506										0	c.(1063-1065)GCA>TCA			Gene3D:1.25.10.10,PROSITE_profiles:PS50176,hmmpanther:PTHR22895,SMART_domains:SM00185,Superfamily_domains:SSF48371	armadillo repeat containing 6				ENSP00000376148		8-Jun									COSM3403978,COSM3403977	8-Jun	.		ENST00000392336	Transcript					protein binding	ENSG00000105676	g.chr19:19166113G>T	25049			MODERATE		2.225	medium	getma.org/?cm=msa&ty=f&p=ARMC6_HUMAN&rb=252&re=451&var=A355S	NA	getma.org/?cm=var&var=hg19,19,19166113,G,T&fts=all	A355S	--	--	1																																		ARMC6_uc002nlc.2_Missense_Mutation_p.A330S|ARMC6_uc010xql.1_Missense_Mutation_p.A262S|ARMC6_uc002nle.2_Missense_Mutation_p.A330S|ARMC6_uc010xqm.1_Missense_Mutation_p.A355S	1,1			possibly_damaging(0.848)	p.A355S	NM_033415	NP_219483		tolerated(0.13)	1,1	ARMC6_HUMAN	ARMC6	HGNC	Q6NXE6	ARMC6_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)		F5H7V0_HUMAN,F5H6J3_HUMAN,F5H4P3_HUMAN,F5H3X1_HUMAN,F5H2X2_HUMAN,F5H2K4_HUMAN,F5H052_HUMAN,F5GWV0_HUMAN,B4E1N1_HUMAN		7	1411	+			UPI0000D4C04D	355			ARM 3.		SNV	ARMC6,missense_variant,p.Ala355Ser,ENST00000535612,NM_001199196.1;ARMC6,missense_variant,p.Ala330Ser,ENST00000269932,;ARMC6,missense_variant,p.Ala330Ser,ENST00000392335,NM_033415.3;ARMC6,missense_variant,p.Ala355Ser,ENST00000392336,;ARMC6,missense_variant,p.Ala262Ser,ENST00000546344,;ARMC6,missense_variant,p.Ala19Ser,ENST00000535795,;ARMC6,missense_variant,p.Ala45Ser,ENST00000535478,;ARMC6,downstream_gene_variant,,ENST00000537263,;ARMC6,downstream_gene_variant,,ENST00000541898,;ARMC6,downstream_gene_variant,,ENST00000540792,;ARMC6,upstream_gene_variant,,ENST00000540634,;ARMC6,downstream_gene_variant,,ENST00000535288,;ARMC6,downstream_gene_variant,,ENST00000536098,;ARMC6,downstream_gene_variant,,ENST00000541725,;ARMC6,downstream_gene_variant,,ENST00000538663,;ARMC6,3_prime_UTR_variant,,ENST00000545091,;ARMC6,downstream_gene_variant,,ENST00000539985,;ARMC6,downstream_gene_variant,,ENST00000535758,;	uc002nld.2	c.1063G>T	1170/1866	2	2			c.1063G>T						19	SNP	c.(1063-1065)GCA>TCA	28	28				0	Broad	armadillo repeat containing 6			19166113		0.627	ENSG00000105676	936	g.chr19:19166113G>T			protein binding							64.883867	KEEP	13	18	0.419354839	58	57	13	18	0.419354839	74.951807	58	57	0.206349	1	0	0	0	0	1	0	0	0	--	--		0	T			ARMC6_uc002nlc.2_Missense_Mutation_p.A330S|ARMC6_uc010xql.1_Missense_Mutation_p.A262S|ARMC6_uc002nle.2_Missense_Mutation_p.A330S|ARMC6_uc010xqm.1_Missense_Mutation_p.A355S	250	GBM-41-2571-TP	p.A355S	G	GCGAGCCATCGCAGGCAACGA	NM_033415	NP_219483	19166113	Q6NXE6	ARMC6_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)		7	1411	+	T	T			Missense_Mutation	355			ARM 3.			
ARMC7	79637	broad.mit.edu	GRCh37	17	73125017	73125017	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0122-01	TCGA-06-0122-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245543.1:c.481C>T	p.Gln161Ter	p.Q161*	ENST00000245543	NM_024585.2	161	Cag/Tag	0			1			T	Q/*	uc002jmw.1	protein_coding	YES	CCDS11714.1			481/597									pancreas(1)	1	c.(481-483)CAG>TAG			Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR23315	armadillo repeat containing 7				ENSP00000245543		3-Mar									COSM2149214	3-Mar	.		ENST00000245543	Transcript					binding	ENSG00000125449	g.chr17:73125017C>T	26168			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,17,73125017,C,T&fts=all	Q161*	--	--	1																																		ARMC7_uc010wru.1_3'UTR|ARMC7_uc010dga.1_RNA	1	1			p.Q161*	NM_024585	NP_078861			1	ARMC7_HUMAN	ARMC7	HGNC	Q9H6L4	ARMC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)				3	783	+	all_lung(278;0.14)|Lung NSC(278;0.168)		UPI000007003E	161					SNV	ARMC7,stop_gained,p.Gln161Ter,ENST00000245543,NM_024585.2;ARMC7,3_prime_UTR_variant,,ENST00000581078,;NT5C,downstream_gene_variant,,ENST00000245552,NM_014595.2;NT5C,downstream_gene_variant,,ENST00000582160,;NT5C,downstream_gene_variant,,ENST00000578407,NM_001252377.1;NT5C,downstream_gene_variant,,ENST00000582170,;NT5C,downstream_gene_variant,,ENST00000578337,;NT5C,downstream_gene_variant,,ENST00000580423,;ARMC7,non_coding_transcript_exon_variant,,ENST00000579096,;NT5C,downstream_gene_variant,,ENST00000579082,;NT5C,downstream_gene_variant,,ENST00000583655,;NT5C,downstream_gene_variant,,ENST00000580758,;NT5C,downstream_gene_variant,,ENST00000582744,;NT5C,downstream_gene_variant,,ENST00000577523,;NT5C,downstream_gene_variant,,ENST00000579023,;NT5C,downstream_gene_variant,,ENST00000578095,;NT5C,downstream_gene_variant,,ENST00000584352,;	uc002jmw.1	c.481C>T	783/2126	5	1			c.481C>T						17	SNP	c.(481-483)CAG>TAG	4	4			pancreas(1)	1	Broad	armadillo repeat containing 7			73125017		0.706	ENSG00000125449	937	g.chr17:73125017C>T			binding							32.865362	KEEP	6	7	-1	12	14	6	7	-1	33.190817	12	14	0.393939	1	0	0	0	0	0	1	0	0	--	--		0	T			ARMC7_uc010wru.1_3'UTR|ARMC7_uc010dga.1_RNA	10	GBM-06-0122-TP	p.Q161*	C	GAACCTGGCACAGATCTTCCT	NM_024585	NP_078861	73125017	Q9H6L4	ARMC7_HUMAN	0	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		3	783	+	T	T	all_lung(278;0.14)|Lung NSC(278;0.168)		Nonsense_Mutation	161						
ARMC8	25852	broad.mit.edu	GRCh37	3	137991889	137991889	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0130-01	TCGA-06-0130-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000481646.1:c.1518A>G	p.Leu506=	p.L506=	ENST00000481646	NM_015396.4	506	ttA/ttG	0			1			G	L	uc003esa.1	protein_coding					1560/2022										0	c.(1516-1518)TTA>TTG			hmmpanther:PTHR15651,hmmpanther:PTHR15651:SF7,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371	armadillo repeat containing 8 isoform 2				ENSP00000419413		17/22									COSM3408277	17/22	.		ENST00000469044	Transcript					binding	ENSG00000114098	g.chr3:137991889A>G	24999			LOW								--	--	1																																		TXNDC6_uc003esd.1_Intron|TXNDC6_uc010huf.1_Intron|TXNDC6_uc003ese.1_Intron|ARMC8_uc011bmf.1_Silent_p.L489L|ARMC8_uc011bmg.1_Silent_p.L453L|ARMC8_uc011bmh.1_Silent_p.L447L|ARMC8_uc003esb.1_Silent_p.L478L|ARMC8_uc003esc.1_Silent_p.L278L|ARMC8_uc003esf.1_Silent_p.L89L	1				p.L506L	NM_015396	NP_056211			1	ARMC8_HUMAN	ARMC8	HGNC	Q8IUR7	ARMC8_HUMAN			C9JAA7_HUMAN,C9J8P8_HUMAN,B7Z979_HUMAN,A8MTG8_HUMAN		18	1885	+			UPI0000F6E6C2	520			ARM 11.		SNV	ARMC8,synonymous_variant,p.=,ENST00000469044,NM_001267041.1,NM_001267042.1;ARMC8,synonymous_variant,p.=,ENST00000481646,NM_015396.4;ARMC8,synonymous_variant,p.=,ENST00000491704,;ARMC8,synonymous_variant,p.=,ENST00000393058,;ARMC8,synonymous_variant,p.=,ENST00000538260,;ARMC8,synonymous_variant,p.=,ENST00000461822,;ARMC8,synonymous_variant,p.=,ENST00000485396,;NME9,intron_variant,,ENST00000383180,NM_178130.2;NME9,intron_variant,,ENST00000317876,;NME9,intron_variant,,ENST00000536478,;NME9,intron_variant,,ENST00000484930,;NME9,intron_variant,,ENST00000341790,;ARMC8,upstream_gene_variant,,ENST00000464181,;ARMC8,non_coding_transcript_exon_variant,,ENST00000466762,;ARMC8,non_coding_transcript_exon_variant,,ENST00000460495,;NME9,intron_variant,,ENST00000492993,;	uc003esa.1	c.1518A>G	1831/4790	3	3			c.1518A>G						3	SNP	c.(1516-1518)TTA>TTG	11	11				0	Broad	armadillo repeat containing 8 isoform 2			137991889		0.368	ENSG00000114098	938	g.chr3:137991889A>G			binding							74.817976	KEEP	14	11	-1	46	54	14	11	-1	83.670859	46	54	0.213675	1	0	0	0	0	0	0	1	0	--	--		0	G			TXNDC6_uc003esd.1_Intron|TXNDC6_uc010huf.1_Intron|TXNDC6_uc003ese.1_Intron|ARMC8_uc011bmf.1_Silent_p.L489L|ARMC8_uc011bmg.1_Silent_p.L453L|ARMC8_uc011bmh.1_Silent_p.L447L|ARMC8_uc003esb.1_Silent_p.L478L|ARMC8_uc003esc.1_Silent_p.L278L|ARMC8_uc003esf.1_Silent_p.L89L	16	GBM-06-0130-TP	p.L506L	A	TCCGGTTATTATCAGATTCAG	NM_015396	NP_056211	137991889	Q8IUR7	ARMC8_HUMAN	0			18	1885	+	G	G			Silent	520			ARM 11.			
ARMC8	0	broad.mit.edu	GRCh37	3	137964018	137964018	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000469044.1:c.1127G>A	p.Arg376Gln	p.R376Q	ENST00000469044	NM_001267041.1	376	cGg/cAg	0			1			A	R/Q	uc003esa.1	protein_coding					1127/2022										0	c.(1084-1086)CGG>CAG			hmmpanther:PTHR15651,hmmpanther:PTHR15651:SF7,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371	armadillo repeat containing 8 isoform 2				ENSP00000419413		22-Dec									COSM3408276,COSM3408275	22-Dec	.		ENST00000469044	Transcript					binding	ENSG00000114098	g.chr3:137964018G>A	24999			MODERATE		2.4	medium	getma.org/?cm=msa&ty=f&p=ARMC8_HUMAN&rb=293&re=492&var=R376Q	NA	getma.org/?cm=var&var=hg19,3,137964018,G,A&fts=all	R376Q	--	--	1																																		ARMC8_uc003erw.2_Missense_Mutation_p.R362Q|ARMC8_uc003erx.2_Missense_Mutation_p.R362Q|ARMC8_uc003ery.2_Missense_Mutation_p.R334Q|ARMC8_uc003erz.2_Missense_Mutation_p.R334Q|ARMC8_uc011bmf.1_Missense_Mutation_p.R345Q|ARMC8_uc011bmg.1_Missense_Mutation_p.R309Q|ARMC8_uc011bmh.1_Missense_Mutation_p.R303Q|ARMC8_uc003esb.1_Missense_Mutation_p.R334Q|ARMC8_uc003esc.1_Missense_Mutation_p.R134Q	1,1			probably_damaging(0.996)	p.R362Q	NM_015396	NP_056211		deleterious(0)	1,1	ARMC8_HUMAN	ARMC8	HGNC	Q8IUR7	ARMC8_HUMAN			C9JAA7_HUMAN,C9J8P8_HUMAN,B7Z979_HUMAN,A8MTG8_HUMAN		13	1452	+			UPI0000F6E6C2	376			ARM 8.		SNV	ARMC8,missense_variant,p.Arg376Gln,ENST00000469044,NM_001267041.1,NM_001267042.1;ARMC8,missense_variant,p.Arg362Gln,ENST00000358441,NM_014154.3,NM_213654.2;ARMC8,missense_variant,p.Arg362Gln,ENST00000481646,NM_015396.4;ARMC8,missense_variant,p.Arg362Gln,ENST00000471453,;ARMC8,missense_variant,p.Arg334Gln,ENST00000491704,;ARMC8,missense_variant,p.Arg366Gln,ENST00000393058,;ARMC8,missense_variant,p.Arg345Gln,ENST00000538260,;ARMC8,missense_variant,p.Arg309Gln,ENST00000461822,;ARMC8,missense_variant,p.Arg303Gln,ENST00000485396,;ARMC8,missense_variant,p.Arg334Gln,ENST00000489213,;ARMC8,missense_variant,p.Arg376Gln,ENST00000470821,;ARMC8,missense_variant,p.Arg270Gln,ENST00000463485,;ARMC8,missense_variant,p.Arg90Gln,ENST00000469860,;ARMC8,3_prime_UTR_variant,,ENST00000470549,;ARMC8,non_coding_transcript_exon_variant,,ENST00000486832,;ARMC8,non_coding_transcript_exon_variant,,ENST00000460495,;	uc003esa.1	c.1085G>A	1398/4790	2	2			c.1085G>A						3	SNP	c.(1084-1086)CGG>CAG	17	17				0	Broad	armadillo repeat containing 8 isoform 2			137964018		0.522	ENSG00000114098	938	g.chr3:137964018G>A			binding							-33.044714	KEEP	3	2	-1	90	76	3	2	-1	7.284241	90	76	0.024845	1	0	0	0	0	1	0	0	0	--	--		0	A			ARMC8_uc003erw.2_Missense_Mutation_p.R362Q|ARMC8_uc003erx.2_Missense_Mutation_p.R362Q|ARMC8_uc003ery.2_Missense_Mutation_p.R334Q|ARMC8_uc003erz.2_Missense_Mutation_p.R334Q|ARMC8_uc011bmf.1_Missense_Mutation_p.R345Q|ARMC8_uc011bmg.1_Missense_Mutation_p.R309Q|ARMC8_uc011bmh.1_Missense_Mutation_p.R303Q|ARMC8_uc003esb.1_Missense_Mutation_p.R334Q|ARMC8_uc003esc.1_Missense_Mutation_p.R134Q	249	GBM-32-5222-TP	p.R362Q	G	GAAGACATCCGGAAGAAGGTG	NM_015396	NP_056211	137964018	Q8IUR7	ARMC8_HUMAN	0			13	1452	+	A	A			Missense_Mutation	376			ARM 8.			
ARMC9	0	broad.mit.edu	GRCh37	2	232127073	232127073	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-14-0740-01	TCGA-14-0740-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000349938.4:c.1081A>T	p.Ile361Phe	p.I361F	ENST00000349938	NM_025139.4	361	Atc/Ttc	0			1			T	I/F	uc002vrq.3	protein_coding	YES	CCDS2484.1			1081/1998									ovary(1)	1	c.(1081-1083)ATC>TTC			hmmpanther:PTHR14881	armadillo repeat containing 9				ENSP00000258417		21-Dec									COSM3407650,COSM3407651	21-Dec	.		ENST00000349938	Transcript					binding	ENSG00000135931	g.chr2:232127073A>T	20730			MODERATE		1.555	low	getma.org/?cm=msa&ty=f&p=ARMC9_HUMAN&rb=1&re=387&var=I361F	NA	getma.org/?cm=var&var=hg19,2,232127073,A,T&fts=all	I361F	--	--	1																																		ARMC9_uc002vrp.3_Missense_Mutation_p.I361F|ARMC9_uc002vrr.1_RNA	1,1	1		possibly_damaging(0.724)	p.I361F	NM_025139	NP_079415		deleterious(0.03)	1,1	ARMC9_HUMAN	ARMC9	HGNC	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	C9JW07_HUMAN		12	1193	+		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)	UPI00001AE7AC	361					SNV	ARMC9,missense_variant,p.Ile361Phe,ENST00000349938,NM_025139.4,NM_001271466.1;ARMC9,missense_variant,p.Ile78Phe,ENST00000436339,;ARMC9,missense_variant,p.Ile64Phe,ENST00000424740,;ARMC9,non_coding_transcript_exon_variant,,ENST00000483477,;ARMC9,non_coding_transcript_exon_variant,,ENST00000467698,;	uc002vrq.3	c.1081A>T	1275/2300	2	2			c.1081A>T						2	SNP	c.(1081-1083)ATC>TTC	20	20			ovary(1)	1	Broad	armadillo repeat containing 9			232127073		0.498	ENSG00000135931	939	g.chr2:232127073A>T			binding							28.713448	KEEP	10	12	-1	59	70	10	12	-1	44.198305	59	70	0.147287	1	0	0	0	0	1	0	0	0	--	--		0	T			ARMC9_uc002vrp.3_Missense_Mutation_p.I361F|ARMC9_uc002vrr.1_RNA	132	GBM-14-0740-TP	p.I361F	A	GCAAGCCTACATCAGCAATGA	NM_025139	NP_079415	232127073	Q7Z3E5	ARMC9_HUMAN	0		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	12	1193	+	T	T		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)	Missense_Mutation	361						
ARMCX2	9823	broad.mit.edu	GRCh37	X	100910782	100910782	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0213-01	TCGA-06-0213-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328766.5:c.1793A>C	p.Tyr598Ser	p.Y598S	ENST00000328766	NM_014782.5	598	tAc/tCc	0			1			G	Y/S	uc004eid.2	protein_coding	YES	CCDS14490.1			1793/1899									ovary(6)	6	c.(1792-1794)TAC>TCC			hmmpanther:PTHR15712:SF9,hmmpanther:PTHR15712,Pfam_domain:PF04826	ALEX2 protein				ENSP00000331662		5-May									COSM2150877	5-May	.		ENST00000328766	Transcript				integral to membrane	binding	ENSG00000184867	g.chrX:100910782T>G	16869			MODERATE		-0.69	neutral	getma.org/?cm=msa&ty=f&p=ARMX2_HUMAN&rb=375&re=626&var=Y598S	NA	getma.org/?cm=var&var=hg19,X,100910782,T,G&fts=all	Y598S	--	--	1																																		ARMCX2_uc004eie.3_Missense_Mutation_p.Y598S|ARMCX2_uc004eif.3_Missense_Mutation_p.Y598S|ARMCX2_uc004eig.3_Missense_Mutation_p.Y598S|ARMCX2_uc010nnt.2_Missense_Mutation_p.Y598S	1	1		benign(0.222)	p.Y598S	NM_177949	NP_808818		tolerated(0.3)	1	ARMX2_HUMAN	ARMCX2	HGNC	Q7L311	ARMX2_HUMAN			Q5H9E1_HUMAN,Q5H9E0_HUMAN,Q5H9D8_HUMAN,Q5H9D7_HUMAN		3	2148	-			UPI0000071305	598					SNV	ARMCX2,missense_variant,p.Tyr598Ser,ENST00000328766,NM_014782.5;ARMCX2,missense_variant,p.Tyr598Ser,ENST00000356824,NM_177949.2;ARMCX2,missense_variant,p.Tyr598Ser,ENST00000330154,;ARMCX2,downstream_gene_variant,,ENST00000413506,;ARMCX2,downstream_gene_variant,,ENST00000433318,;ARMCX2,downstream_gene_variant,,ENST00000440675,;ARMCX2,downstream_gene_variant,,ENST00000458024,;ARMCX2,downstream_gene_variant,,ENST00000431597,;ARMCX2,downstream_gene_variant,,ENST00000467416,;ARMCX2,downstream_gene_variant,,ENST00000479333,;ARMCX2,downstream_gene_variant,,ENST00000475854,;ARMCX2,downstream_gene_variant,,ENST00000488982,;ARMCX2,downstream_gene_variant,,ENST00000496581,;	uc004eid.2	c.1793A>C	2247/2762	3	3			c.1793A>C						23	SNP	c.(1792-1794)TAC>TCC	59	59			ovary(6)	6	Broad	ALEX2 protein			100910782		0.328	ENSG00000184867	941	g.chrX:100910782T>G		integral to membrane	binding							240.322146	KEEP	47	33	-1	109	76	47	33	-1	249.035354	109	76	0.298755	1	0	0	0	0	1	0	0	0	--	--		0	G			ARMCX2_uc004eie.3_Missense_Mutation_p.Y598S|ARMCX2_uc004eif.3_Missense_Mutation_p.Y598S|ARMCX2_uc004eig.3_Missense_Mutation_p.Y598S|ARMCX2_uc010nnt.2_Missense_Mutation_p.Y598S	49	GBM-06-0213-TP	p.Y598S	T	AGTGCATAAGTAAAAAAGGGA	NM_177949	NP_808818	100910782	Q7L311	ARMX2_HUMAN	0			3	2148	-	G	G			Missense_Mutation	598						
ARMCX2	9823	broad.mit.edu	GRCh37	X	100911799	100911799	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01	TCGA-06-0876-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328766.5:c.776C>T	p.Ala259Val	p.A259V	ENST00000328766	NM_014782.5	259	gCa/gTa	0			1			A	A/V	uc004eid.2	protein_coding	YES	CCDS14490.1			776/1899									ovary(6)	6	c.(775-777)GCA>GTA			hmmpanther:PTHR15712:SF9,hmmpanther:PTHR15712	ALEX2 protein				ENSP00000331662		5-May									COSM2152058	5-May	.		ENST00000328766	Transcript				integral to membrane	binding	ENSG00000184867	g.chrX:100911799G>A	16869			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=ARMX2_HUMAN&rb=251&re=329&var=A259V	NA	getma.org/?cm=var&var=hg19,X,100911799,G,A&fts=all	A259V	--	--	1																																		ARMCX2_uc004eie.3_Missense_Mutation_p.A259V|ARMCX2_uc004eif.3_Missense_Mutation_p.A259V|ARMCX2_uc004eig.3_Missense_Mutation_p.A259V|ARMCX2_uc010nnt.2_Missense_Mutation_p.A259V	1	1		benign(0.354)	p.A259V	NM_177949	NP_808818		deleterious_low_confidence(0)	1	ARMX2_HUMAN	ARMCX2	HGNC	Q7L311	ARMX2_HUMAN			Q5H9E1_HUMAN,Q5H9E0_HUMAN,Q5H9D8_HUMAN,Q5H9D7_HUMAN		3	1131	-			UPI0000071305	259			Ala-rich.		SNV	ARMCX2,missense_variant,p.Ala259Val,ENST00000328766,NM_014782.5;ARMCX2,missense_variant,p.Ala259Val,ENST00000356824,NM_177949.2;ARMCX2,missense_variant,p.Ala259Val,ENST00000330154,;ARMCX2,downstream_gene_variant,,ENST00000413506,;ARMCX2,downstream_gene_variant,,ENST00000433318,;ARMCX2,downstream_gene_variant,,ENST00000440675,;ARMCX2,downstream_gene_variant,,ENST00000458024,;ARMCX2,downstream_gene_variant,,ENST00000431597,;ARMCX2,downstream_gene_variant,,ENST00000467416,;ARMCX2,downstream_gene_variant,,ENST00000479333,;ARMCX2,downstream_gene_variant,,ENST00000475854,;ARMCX2,downstream_gene_variant,,ENST00000488982,;ARMCX2,downstream_gene_variant,,ENST00000496581,;	uc004eid.2	c.776C>T	1230/2762	1	1			c.776C>T						23	SNP	c.(775-777)GCA>GTA	61	61			ovary(6)	6	Broad	ALEX2 protein			100911799		0.597	ENSG00000184867	941	g.chrX:100911799G>A		integral to membrane	binding							292.382379	KEEP	81	38	-1	112	79	81	38	-1	295.685434	112	79	0.385417	1	0	0	0	0	1	0	0	0	--	--		0	A			ARMCX2_uc004eie.3_Missense_Mutation_p.A259V|ARMCX2_uc004eif.3_Missense_Mutation_p.A259V|ARMCX2_uc004eig.3_Missense_Mutation_p.A259V|ARMCX2_uc010nnt.2_Missense_Mutation_p.A259V	72	GBM-06-0876-TP	p.A259V	G	CCCAGGGGTTGCTTTCTTGGC	NM_177949	NP_808818	100911799	Q7L311	ARMX2_HUMAN	0			3	1131	-	A	A			Missense_Mutation	259			Ala-rich.			
ARMCX5	0	broad.mit.edu	GRCh37	X	101858029	101858029	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-19-5954-01	TCGA-19-5954-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000246174.2:c.960G>C	p.Lys320Asn	p.K320N	ENST00000246174	NM_001168480.1	320	aaG/aaC	0			1			C	K/N	uc004ejg.2	protein_coding		CCDS14500.1			960/1677									ovary(1)	1	c.(958-960)AAG>AAC			hmmpanther:PTHR15712:SF12,hmmpanther:PTHR15712,Gene3D:1.25.10.10,Pfam_domain:PF04826,Superfamily_domains:SSF48371	armadillo repeat containing, X-linked 5				ENSP00000246174		6-Jun									COSM2156734	6-Jun	.		ENST00000246174	Transcript					binding	ENSG00000125962	g.chrX:101858029G>C	25772			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=ARMX5_HUMAN&rb=298&re=552&var=K320N	NA	getma.org/?cm=var&var=hg19,X,101858029,G,C&fts=all	K320N	0.345	neutral	1																																		ARMCX5_uc004ejh.2_Missense_Mutation_p.K320N	1			probably_damaging(0.999)	p.K320N	NM_022838	NP_073749		tolerated(0.06)	1	ARMX5_HUMAN	ARMCX5	HGNC	Q6P1M9	ARMX5_HUMAN			S4R3L5_HUMAN,S4R3L0_HUMAN		6	1841	+			UPI000013CBDB	320			ARM 1.		SNV	ARMCX5,missense_variant,p.Lys320Asn,ENST00000604957,NM_001168478.1;ARMCX5,missense_variant,p.Lys320Asn,ENST00000537008,NM_001168479.1;ARMCX5,missense_variant,p.Lys320Asn,ENST00000246174,NM_001168480.1;ARMCX5,missense_variant,p.Lys320Asn,ENST00000541409,NM_001168485.1;ARMCX5,missense_variant,p.Lys320Asn,ENST00000536530,NM_001168482.1,NM_022838.3;ARMCX5,missense_variant,p.Lys320Asn,ENST00000372742,;ARMCX5,downstream_gene_variant,,ENST00000477663,;ARMCX5,downstream_gene_variant,,ENST00000479502,;ARMCX5,downstream_gene_variant,,ENST00000473968,;RP4-769N13.7,intron_variant,,ENST00000602441,;RP4-769N13.6,intron_variant,,ENST00000476910,;RP4-769N13.6,intron_variant,,ENST00000466616,;RP4-769N13.6,intron_variant,,ENST00000460793,;RP4-769N13.6,intron_variant,,ENST00000486740,;RP4-769N13.6,intron_variant,,ENST00000475738,;RP4-769N13.6,intron_variant,,ENST00000460026,;RP4-769N13.6,intron_variant,,ENST00000465548,;RP4-769N13.6,intron_variant,,ENST00000602366,;RP4-769N13.6,intron_variant,,ENST00000602463,;	uc004ejg.2	c.960G>C	1841/2899	4	4			c.960G>C						23	SNP	c.(958-960)AAG>AAC	42	42			ovary(1)	1	Broad	armadillo repeat containing, X-linked 5			101858029		0.383	ENSG00000125962	943	g.chrX:101858029G>C			binding							134.068246	KEEP	20	22	-1	40	40	20	22	-1	136.303549	40	40	0.350877	1	0	0	0	0	1	0	0	0	0.345	neutral		0	C			ARMCX5_uc004ejh.2_Missense_Mutation_p.K320N	174	GBM-19-5954-TP	p.K320N	G	CCCTCCTTAAGTTAACTAAGG	NM_022838	NP_073749	101858029	Q6P1M9	ARMX5_HUMAN	0			6	1841	+	C	C			Missense_Mutation	320			ARM 1.			
ARMCX5	0	broad.mit.edu	GRCh37	X	101858012	101858012	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-19-5954-01	TCGA-19-5954-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000246174.2:c.943delC	p.Val316LeufsTer6	p.V316Lfs*6	ENST00000246174	NM_001168480.1	315	Ctt/tt	0			1			-	L/X	uc004ejg.2	protein_coding		CCDS14500.1			943/1677									ovary(1)	1	c.(943-945)CTTfs			hmmpanther:PTHR15712:SF12,hmmpanther:PTHR15712,Gene3D:1.25.10.10,Pfam_domain:PF04826,Superfamily_domains:SSF48371	armadillo repeat containing, X-linked 5				ENSP00000246174		6-Jun									COSM2156747	6-Jun	.		ENST00000246174	Transcript					binding	ENSG00000125962	g.chrX:101858012delC	25772			HIGH								--	--	1																																		ARMCX5_uc004ejh.2_Frame_Shift_Del_p.L315fs	1				p.L315fs	NM_022838	NP_073749			1	ARMX5_HUMAN	ARMCX5	HGNC	Q6P1M9	ARMX5_HUMAN			S4R3L5_HUMAN,S4R3L0_HUMAN		6	1824	+			UPI000013CBDB	315			ARM 1.		deletion	ARMCX5,frameshift_variant,p.Val316LeufsTer6,ENST00000604957,NM_001168478.1;ARMCX5,frameshift_variant,p.Val316LeufsTer6,ENST00000537008,NM_001168479.1;ARMCX5,frameshift_variant,p.Val316LeufsTer6,ENST00000246174,NM_001168480.1;ARMCX5,frameshift_variant,p.Val316LeufsTer6,ENST00000541409,NM_001168485.1;ARMCX5,frameshift_variant,p.Val316LeufsTer6,ENST00000536530,NM_001168482.1,NM_022838.3;ARMCX5,frameshift_variant,p.Val316LeufsTer6,ENST00000372742,;ARMCX5,downstream_gene_variant,,ENST00000477663,;ARMCX5,downstream_gene_variant,,ENST00000479502,;ARMCX5,downstream_gene_variant,,ENST00000473968,;RP4-769N13.7,intron_variant,,ENST00000602441,;RP4-769N13.6,intron_variant,,ENST00000476910,;RP4-769N13.6,intron_variant,,ENST00000466616,;RP4-769N13.6,intron_variant,,ENST00000460793,;RP4-769N13.6,intron_variant,,ENST00000486740,;RP4-769N13.6,intron_variant,,ENST00000475738,;RP4-769N13.6,intron_variant,,ENST00000460026,;RP4-769N13.6,intron_variant,,ENST00000465548,;RP4-769N13.6,intron_variant,,ENST00000602366,;RP4-769N13.6,intron_variant,,ENST00000602463,;	uc004ejg.2	c.943delC	1824/2899	5	5			c.943delC						23	DEL	c.(943-945)CTTfs	28	28			ovary(1)	1	Broad	armadillo repeat containing, X-linked 5			101858012		0.388	ENSG00000125962	943	g.chrX:101858012delC			binding																				0.36	1	1	0	1	0	0	0	0	0	--	--		0	-			ARMCX5_uc004ejh.2_Frame_Shift_Del_p.L315fs	174	GBM-19-5954-TP	p.L315fs	C	GTTTGATAAACTTGTTGCCCT	NM_022838	NP_073749	101858012	Q6P1M9	ARMX5_HUMAN	0			6	1824	+	-	-			Frame_Shift_Del	315			ARM 1.			
ARNT2	9915	broad.mit.edu	GRCh37	15	80883952	80883952	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0238-01	TCGA-06-0238-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303329.4:c.1962G>A	p.Ser654=	p.S654=	ENST00000303329	NM_014862.3	654	tcG/tcA	0			1			A	S	uc002bfr.2	protein_coding	YES	CCDS32307.1			1962/2154									central_nervous_system(3)|ovary(1)|pancreas(1)	5	c.(1960-1962)TCG>TCA			hmmpanther:PTHR23042,hmmpanther:PTHR23042:SF6	aryl hydrocarbon receptor nuclear translocator				ENSP00000307479		18/19	9.88E-05		8.64E-05			1.50E-05	0.0011	0.000545	rs760912984,COSM3401952	18/19	common_variant		ENST00000303329	Transcript	1		central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	ENSG00000172379	g.chr15:80883952G>A	16876			LOW								--	--	1																																		ARNT2_uc010unm.1_Silent_p.S643S|ARNT2_uc002bfs.2_Silent_p.S643S	0,1	1			p.S654S	NM_014862	NP_055677			0,1	ARNT2_HUMAN	ARNT2	HGNC	Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		H0YKW1_HUMAN		18	2128	+			UPI00001FEA05	654					SNV	ARNT2,synonymous_variant,p.=,ENST00000533983,;ARNT2,synonymous_variant,p.=,ENST00000303329,NM_014862.3;ARNT2,synonymous_variant,p.=,ENST00000527771,;	uc002bfr.2	c.1962G>A	2127/6558	1	1			c.1962G>A						15	SNP	c.(1960-1962)TCG>TCA	61	61			central_nervous_system(3)|ovary(1)|pancreas(1)	5	Broad	aryl hydrocarbon receptor nuclear translocator			80883952		0.567	ENSG00000172379	947	g.chr15:80883952G>A	central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity							17.570717	KEEP	8	7	-1	67	62	8	7	-1	37.468408	67	62	0.11194	1	0	0	0	0	0	0	1	0	--	--		0	A			ARNT2_uc010unm.1_Silent_p.S643S|ARNT2_uc002bfs.2_Silent_p.S643S	55	GBM-06-0238-TP	p.S654S	G	GGCGGCCCTCGGAAGTCTGGT	NM_014862	NP_055677	80883952	Q9HBZ2	ARNT2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(143;0.134)		18	2128	+	A	A			Silent	654						
ARNT2	9915	broad.mit.edu	GRCh37	15	80845010	80845010	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0686-01	TCGA-06-0686-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303329.4:c.984G>T	p.Met328Ile	p.M328I	ENST00000303329	NM_014862.3	328	atG/atT	0			1			T	M/I	uc002bfr.2	protein_coding	YES	CCDS32307.1			984/2154									central_nervous_system(3)|ovary(1)|pancreas(1)	5	c.(982-984)ATG>ATT			SMART_domains:SM00091,hmmpanther:PTHR23042,hmmpanther:PTHR23042:SF6	aryl hydrocarbon receptor nuclear translocator				ENSP00000307479		19-Oct									COSM3401951	19-Oct	.		ENST00000303329	Transcript	1		central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	ENSG00000172379	g.chr15:80845010G>T	16876			MODERATE		-0.385	neutral	getma.org/?cm=msa&ty=f&p=ARNT2_HUMAN&rb=323&re=393&var=M328I	getma.org/pdb.php?prot=ARNT2_HUMAN&from=323&to=393&var=M328I	getma.org/?cm=var&var=hg19,15,80845010,G,T&fts=all	M328I	--	--	1																																		ARNT2_uc010unm.1_Missense_Mutation_p.M317I|ARNT2_uc002bfs.2_Missense_Mutation_p.M317I	1	1		benign(0.019)	p.M328I	NM_014862	NP_055677		tolerated(0.41)	1	ARNT2_HUMAN	ARNT2	HGNC	Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		H0YKW1_HUMAN		10	1150	+			UPI00001FEA05	328			PAS 2.		SNV	ARNT2,missense_variant,p.Met317Ile,ENST00000533983,;ARNT2,missense_variant,p.Met328Ile,ENST00000303329,NM_014862.3;ARNT2,missense_variant,p.Met317Ile,ENST00000527771,;ARNT2,missense_variant,p.Met102Ile,ENST00000525103,;RP11-379K22.2,downstream_gene_variant,,ENST00000558208,;ARNT2,non_coding_transcript_exon_variant,,ENST00000558849,;	uc002bfr.2	c.984G>T	1149/6558	1	1			c.984G>T						15	SNP	c.(982-984)ATG>ATT	1	1			central_nervous_system(3)|ovary(1)|pancreas(1)	5	Broad	aryl hydrocarbon receptor nuclear translocator			80845010		0.493	ENSG00000172379	947	g.chr15:80845010G>T	central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity							-23.147428	KEEP	2	3	0.4	80	57	2	3	0.4	9.343358	80	57	0.035971	1	0	0	0	0	1	0	0	0	--	--		0	T			ARNT2_uc010unm.1_Missense_Mutation_p.M317I|ARNT2_uc002bfs.2_Missense_Mutation_p.M317I	64	GBM-06-0686-TP	p.M328I	G	GCATGGACATGAATGGGATGT	NM_014862	NP_055677	80845010	Q9HBZ2	ARNT2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(143;0.134)		10	1150	+	T	T			Missense_Mutation	328			PAS 2.			
BMAL2	0	broad.mit.edu	GRCh37	12	27540171	27540171	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01	TCGA-76-4926-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266503.5:c.575G>A	p.Gly192Asp	p.G192D	ENST00000266503		192	gGc/gAc	0			1			A	G/D	uc001rht.1	protein_coding	YES	CCDS8712.1			575/1911									ovary(1)|skin(1)	2	c.(574-576)GGC>GAC			Gene3D:3.30.450.20,Pfam_domain:PF00989,Prints_domain:PR00785,PROSITE_profiles:PS50112,hmmpanther:PTHR23042,hmmpanther:PTHR23042:SF48,SMART_domains:SM00091,Superfamily_domains:SSF55785	aryl hydrocarbon receptor nuclear				ENSP00000266503		17-Jul	8.24E-06					1.51E-05			rs754238582,COSM3398641	17-Jul	.		ENST00000266503	Transcript			circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	ENSG00000029153	g.chr12:27540171G>A	18984			MODERATE		4.1	high	getma.org/?cm=msa&ty=f&p=BMAL2_HUMAN&rb=181&re=287&var=G192D	getma.org/pdb.php?prot=BMAL2_HUMAN&from=181&to=287&var=G192D	getma.org/?cm=var&var=hg19,12,27540171,G,A&fts=all	G192D	--	--	1																																		ARNTL2_uc001rhw.2_Missense_Mutation_p.G155D|ARNTL2_uc010sjp.1_Missense_Mutation_p.G155D|ARNTL2_uc001rhu.1_Missense_Mutation_p.G178D|ARNTL2_uc009zji.1_Missense_Mutation_p.G158D|ARNTL2_uc001rhv.1_Missense_Mutation_p.G144D	0,1	1		probably_damaging(1)	p.G192D	NM_020183	NP_064568		deleterious(0)	0,1	BMAL2_HUMAN	ARNTL2	HGNC	Q8WYA1	BMAL2_HUMAN					7	593	+	Colorectal(261;0.0847)|Lung SC(9;0.184)		UPI0000073439	192			PAS 1.		SNV	ARNTL2,missense_variant,p.Gly158Asp,ENST00000544915,NM_020183.4;ARNTL2,missense_variant,p.Gly192Asp,ENST00000266503,;ARNTL2,missense_variant,p.Gly144Asp,ENST00000457040,;ARNTL2,missense_variant,p.Gly155Asp,ENST00000395901,NM_001248003.1,NM_001248004.1;ARNTL2,missense_variant,p.Gly178Asp,ENST00000311001,NM_001248002.1;ARNTL2,missense_variant,p.Gly155Asp,ENST00000546179,NM_001248005.1;ARNTL2,missense_variant,p.Gly144Asp,ENST00000261178,;ARNTL2,missense_variant,p.Gly107Asp,ENST00000542388,;RP11-165P7.1,downstream_gene_variant,,ENST00000500498,;	uc001rht.1	c.575G>A	593/2291	1	1			c.575G>A						12	SNP	c.(574-576)GGC>GAC	57	57			ovary(1)|skin(1)	2	Broad	aryl hydrocarbon receptor nuclear			27540171		0.274	ENSG00000029153	949	g.chr12:27540171G>A	circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity							220.037553	KEEP	45	37	-1	63	58	45	37	-1	221.474518	63	58	0.406417	1	0	0	0	0	1	0	0	0	--	--		0	A			ARNTL2_uc001rhw.2_Missense_Mutation_p.G155D|ARNTL2_uc010sjp.1_Missense_Mutation_p.G155D|ARNTL2_uc001rhu.1_Missense_Mutation_p.G178D|ARNTL2_uc009zji.1_Missense_Mutation_p.G158D|ARNTL2_uc001rhv.1_Missense_Mutation_p.G144D	266	GBM-76-4926-TP	p.G192D	G	ACTGCAGAAGGCTTCTTATTT	NM_020183	NP_064568	27540171	Q8WYA1	BMAL2_HUMAN	0			7	593	+	A	A	Colorectal(261;0.0847)|Lung SC(9;0.184)		Missense_Mutation	192			PAS 1.			
ARPC2	0	broad.mit.edu	GRCh37	2	219103491	219103492	+	frameshift_variant	Frame_Shift_Del	DEL	TT	TT	-			TCGA-32-1979-01	TCGA-32-1979-01	TT	TT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295685.10:c.374_375delTT	p.Phe125Ter	p.F125*	ENST00000295685	NM_005731.3	125	TTt/t	0			1			-	F/X	uc002vhd.2	protein_coding	YES	CCDS2410.1			373-374/903									ovary(1)	1	c.(373-375)TTTfs			hmmpanther:PTHR12058,Gene3D:3.30.1460.20,Pfam_domain:PF04045,Superfamily_domains:SSF69645	actin related protein 2/3 complex subunit 2				ENSP00000295685		10-May										10-May	.		ENST00000295685	Transcript			cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton	ENSG00000163466	g.chr2:219103491_219103492delTT	705	1		HIGH								--	--	1																																		ARPC2_uc002vhe.2_Frame_Shift_Del_p.F125fs|ARPC2_uc002vhf.2_Frame_Shift_Del_p.F11fs		1			p.F125fs	NM_152862	NP_690601				ARPC2_HUMAN	ARPC2	HGNC	O15144	ARPC2_HUMAN		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)	Q53R19_HUMAN,C9JTV5_HUMAN		6	485_486	+		Renal(207;0.0474)	UPI0000125D3D	125					deletion	ARPC2,frameshift_variant,p.Phe125Ter,ENST00000295685,NM_005731.3;ARPC2,frameshift_variant,p.Phe125Ter,ENST00000315717,NM_152862.2;ARPC2,downstream_gene_variant,,ENST00000420104,;ARPC2,non_coding_transcript_exon_variant,,ENST00000477992,;ARPC2,non_coding_transcript_exon_variant,,ENST00000478612,;ARPC2,non_coding_transcript_exon_variant,,ENST00000462034,;ARPC2,downstream_gene_variant,,ENST00000484961,;ARPC2,downstream_gene_variant,,ENST00000491780,;ARPC2,downstream_gene_variant,,ENST00000480062,;ARPC2,3_prime_UTR_variant,,ENST00000420201,;ARPC2,3_prime_UTR_variant,,ENST00000414983,;ARPC2,non_coding_transcript_exon_variant,,ENST00000470146,;ARPC2,non_coding_transcript_exon_variant,,ENST00000465395,;ARPC2,non_coding_transcript_exon_variant,,ENST00000472753,;ARPC2,downstream_gene_variant,,ENST00000489598,;	uc002vhd.2	c.373_374delTT	634-635/1605	5	5			c.373_374delTT						2	DEL	c.(373-375)TTTfs	56	56			ovary(1)	1	Broad	actin related protein 2/3 complex subunit 2			219103492		0.416	ENSG00000163466	952	g.chr2:219103491_219103492delTT	cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton																				0.32	1	1	0	1	0	0	0	0	0	--	--		0	-			ARPC2_uc002vhe.2_Frame_Shift_Del_p.F125fs|ARPC2_uc002vhf.2_Frame_Shift_Del_p.F11fs	230	GBM-32-1979-TP	p.F125fs	TT	TGCCTCTGTCTTTGAAAAATAC	NM_152862	NP_690601	219103491	O15144	ARPC2_HUMAN	0		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)	6	485_486	+	-	-		Renal(207;0.0474)	Frame_Shift_Del	125						
ARPC4-TTLL3	100526693	broad.mit.edu	GRCh37	3	9839460	9839463	+	splice_donor_variant,coding_sequence_variant	Splice_Site	DEL	AGGT	AGGT	-			TCGA-06-0173-01	TCGA-06-0173-01	AGGT	AGGT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397256.1:c.122+2_122+5del		p.X41_splice	ENST00000397256	NM_001198793.1	41		0			1			-		uc003btd.3	protein_coding		CCDS43047.1			121-?/507									large_intestine(2)	2	c.e1+1				RecName: Full=Tubulin--tyrosine ligase-like protein 3; AltName: Full=HOTTL;				ENSP00000380431		6-Feb										6-Feb	.		ENST00000397261	Transcript			axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	ENSG00000241553	g.chr3:9839460_9839463delAGGT	707	3		HIGH	5-Feb							--	--	1																																		ARPC4_uc003bsz.1_Splice_Site_p.R41_splice|ARPC4_uc003bta.1_Splice_Site|ARPC4_uc003btb.1_Splice_Site|ARPC4_uc003btc.1_Splice_Site											ARPC4_HUMAN	ARPC4	HGNC	Q9Y4R7	TTLL3_HUMAN			R4GN08_HUMAN		1	119	+	Medulloblastoma(99;0.227)		UPI0000004017						deletion	ARPC4,splice_donor_variant,,ENST00000397261,NM_005718.4;ARPC4-TTLL3,splice_donor_variant,,ENST00000397256,NM_001198793.1;ARPC4,splice_donor_variant,,ENST00000287613,NM_001024960.2;ARPC4,splice_donor_variant,,ENST00000498623,NM_001024959.2;ARPC4,splice_donor_variant,,ENST00000433034,NM_001198780.1;ARPC4,splice_donor_variant,,ENST00000485273,;ARPC4-TTLL3,splice_donor_variant,,ENST00000453882,;TADA3,upstream_gene_variant,,ENST00000440161,NM_001278270.1;TADA3,upstream_gene_variant,,ENST00000439043,;ARPC4,splice_donor_variant,,ENST00000417500,;ARPC4,splice_donor_variant,,ENST00000440787,;ARPC4-TTLL3,splice_donor_variant,,ENST00000424442,;ARPC4,splice_donor_variant,,ENST00000467289,;ARPC4-TTLL3,splice_donor_variant,,ENST00000418163,;ARPC4,non_coding_transcript_exon_variant,,ENST00000479956,;	uc003btd.3	c.-160_splice	685-?/2582	5	5			c.-160_splice						3	DEL	c.e1+1	49	49			large_intestine(2)	2	Broad	RecName: Full=Tubulin--tyrosine ligase-like protein 3; AltName: Full=HOTTL;			9839463		0.564	ENSG00000241553	16478	g.chr3:9839460_9839463delAGGT	axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity																				0.35	1	1	0	1	0	0	0	0	1	--	--		0	-			ARPC4_uc003bsz.1_Splice_Site_p.R41_splice|ARPC4_uc003bta.1_Splice_Site|ARPC4_uc003btb.1_Splice_Site|ARPC4_uc003btc.1_Splice_Site	36	GBM-06-0173-TP		AGGT	AGTGGAAGTCAGGTAGGGAAGGAC			9839460	Q9Y4R7	TTLL3_HUMAN	0			1	119	+	-	-	Medulloblastoma(99;0.227)		Splice_Site							
ARRDC3	0	broad.mit.edu	GRCh37	5	90671379	90671379	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-14-1043-01	TCGA-14-1043-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265138.3:c.562T>G	p.Ser188Ala	p.S188A	ENST00000265138	NM_020801.2	188	Tca/Gca	0			1			C	S/A	uc003kjz.2	protein_coding	YES	CCDS34202.1			562/1245									ovary(1)|breast(1)	2	c.(562-564)TCA>GCA			Gene3D:1g4mB02,Pfam_domain:PF02752,hmmpanther:PTHR11188,hmmpanther:PTHR11188:SF49,SMART_domains:SM01017,Superfamily_domains:SSF81296	arrestin domain containing 3				ENSP00000265138		8-Apr									COSM3410474	8-Apr	.		ENST00000265138	Transcript			signal transduction	cytoplasm	protein binding	ENSG00000113369	g.chr5:90671379A>C	29263			MODERATE		3.085	medium	getma.org/?cm=msa&ty=f&p=ARRD3_HUMAN&rb=187&re=314&var=S188A	NA	getma.org/?cm=var&var=hg19,5,90671379,A,C&fts=all	S188A	--	--	1																																			1	1		possibly_damaging(0.526)	p.S188A	NM_020801	NP_065852		tolerated(0.27)	1	ARRD3_HUMAN	ARRDC3	HGNC	Q96B67	ARRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)			4	802	-		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)	UPI000006F2E2	188					SNV	ARRDC3,missense_variant,p.Ser188Ala,ENST00000265138,NM_020801.2;ARRDC3,non_coding_transcript_exon_variant,,ENST00000503192,;ARRDC3,non_coding_transcript_exon_variant,,ENST00000508948,;ARRDC3,non_coding_transcript_exon_variant,,ENST00000514284,;ARRDC3,upstream_gene_variant,,ENST00000511391,;ARRDC3,upstream_gene_variant,,ENST00000505631,;ARRDC3,downstream_gene_variant,,ENST00000507075,;	uc003kjz.2	c.562T>G	829/4188	4	4			c.562T>G						5	SNP	c.(562-564)TCA>GCA	47	47			ovary(1)|breast(1)	2	Broad	arrestin domain containing 3			90671379		0.398	ENSG00000113369	965	g.chr5:90671379A>C	signal transduction	cytoplasm	protein binding							108.440265	KEEP	28	27	-1	96	88	28	27	-1	119.315837	96	88	0.235294	1	0	0	0	0	1	0	0	0	--	--		0	C				143	GBM-14-1043-TP	p.S188A	A	ATTGGGCCTGAGGTACAGAAC	NM_020801	NP_065852	90671379	Q96B67	ARRD3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)	4	802	-	C	C		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)	Missense_Mutation	188						
ARRDC3	0	broad.mit.edu	GRCh37	5	90672545	90672545	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01	TCGA-26-5135-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265138.3:c.403C>T	p.Arg135Cys	p.R135C	ENST00000265138	NM_020801.2	135	Cgc/Tgc	0			1			A	R/C	uc003kjz.2	protein_coding	YES	CCDS34202.1			403/1245									ovary(1)|breast(1)	2	c.(403-405)CGC>TGC			Pfam_domain:PF00339,hmmpanther:PTHR11188,hmmpanther:PTHR11188:SF49,Superfamily_domains:SSF81296	arrestin domain containing 3				ENSP00000265138		8-Mar									COSM3410475	8-Mar	.		ENST00000265138	Transcript			signal transduction	cytoplasm	protein binding	ENSG00000113369	g.chr5:90672545G>A	29263			MODERATE		3.53	high	getma.org/?cm=msa&ty=f&p=ARRD3_HUMAN&rb=9&re=165&var=R135C	NA	getma.org/?cm=var&var=hg19,5,90672545,G,A&fts=all	R135C	--	--	1																																			1	1		probably_damaging(0.999)	p.R135C	NM_020801	NP_065852		deleterious(0.04)	1	ARRD3_HUMAN	ARRDC3	HGNC	Q96B67	ARRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)			3	643	-		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)	UPI000006F2E2	135					SNV	ARRDC3,missense_variant,p.Arg135Cys,ENST00000265138,NM_020801.2;ARRDC3,non_coding_transcript_exon_variant,,ENST00000503192,;ARRDC3,non_coding_transcript_exon_variant,,ENST00000508948,;ARRDC3,intron_variant,,ENST00000514284,;ARRDC3,non_coding_transcript_exon_variant,,ENST00000507075,;ARRDC3,upstream_gene_variant,,ENST00000511391,;ARRDC3,upstream_gene_variant,,ENST00000505631,;	uc003kjz.2	c.403C>T	670/4188	1	1			c.403C>T						5	SNP	c.(403-405)CGC>TGC	51	51			ovary(1)|breast(1)	2	Broad	arrestin domain containing 3			90672545		0.398	ENSG00000113369	965	g.chr5:90672545G>A	signal transduction	cytoplasm	protein binding							-21.50637	KEEP	1	4	-1	65	67	1	4	-1	6.7195	65	67	0.033613	1	0	0	0	0	1	0	0	0	--	--		0	A				184	GBM-26-5135-TP	p.R135C	G	ACCCAATAGCGCACACTGCCA	NM_020801	NP_065852	90672545	Q96B67	ARRD3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)	3	643	-	A	A		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)	Missense_Mutation	135						
ARRDC4	91947	broad.mit.edu	GRCh37	15	98512581	98512581	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-01	TCGA-06-0190-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268042.6:c.854G>A	p.Cys285Tyr	p.C285Y	ENST00000268042	NM_183376.2	285	tGc/tAc	0			1			A	C/Y	uc010bom.2	protein_coding	YES	CCDS10377.1			854/1257										0	c.(853-855)TGC>TAC			Superfamily_domains:SSF81296,SMART_domains:SM01017,Pfam_domain:PF02752,hmmpanther:PTHR11188,hmmpanther:PTHR11188:SF16	arrestin domain containing 4				ENSP00000268042		8-May									COSM3402034	8-May	.		ENST00000268042	Transcript			signal transduction			ENSG00000140450	g.chr15:98512581G>A	28087			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=ARRD4_HUMAN&rb=191&re=318&var=C285Y	NA	getma.org/?cm=var&var=hg19,15,98512581,G,A&fts=all	C285Y	--	--	1																																		ARRDC4_uc002bui.3_Missense_Mutation_p.C198Y	1	1		probably_damaging(0.985)	p.C285Y	NM_183376	NP_899232		tolerated(0.1)	1	ARRD4_HUMAN	ARRDC4	HGNC	Q8NCT1	ARRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0417)				5	1013	+	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		UPI00001C1F90	285					SNV	ARRDC4,missense_variant,p.Cys285Tyr,ENST00000268042,NM_183376.2;ARRDC4,missense_variant,p.Cys198Tyr,ENST00000538249,;	uc010bom.2	c.854G>A	1018/4072	2	2			c.854G>A						15	SNP	c.(853-855)TGC>TAC	21	21				0	Broad	arrestin domain containing 4			98512581		0.423	ENSG00000140450	966	g.chr15:98512581G>A	signal transduction									-14.962714	KEEP	2	5	-1	66	65	2	5	-1	11.660768	66	65	0.04878	1	0	0	0	0	1	0	0	0	--	--		0	A			ARRDC4_uc002bui.3_Missense_Mutation_p.C198Y	43	GBM-06-0190-TP	p.C285Y	G	CTGGATTGCTGCATTATCAGA	NM_183376	NP_899232	98512581	Q8NCT1	ARRD4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(32;0.0417)		5	1013	+	A	A	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		Missense_Mutation	285						
ARSD	414	broad.mit.edu	GRCh37	X	2826829	2826829	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381154.1:c.1353G>A	p.Ser451=	p.S451=	ENST00000381154	NM_001669.3	451	tcG/tcA	0			1			T	S	uc004cqy.2	protein_coding	YES	CCDS35196.1			1353/1782										0	c.(1351-1353)TCG>TCA			Superfamily_domains:SSF53649,Pfam_domain:PF14707,Gene3D:3.40.720.10,hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF200	arylsulfatase D isoform a precursor				ENSP00000370546		10-Sep	3.29E-05							0.000131	rs749735838,COSM2149386	10-Sep	.		ENST00000381154	Transcript				lysosome	arylsulfatase activity|metal ion binding	ENSG00000006756	g.chrX:2826829C>T	717			LOW								--	--	1																																		ARSD_uc004cqz.1_RNA	0,1	1			p.S451S	NM_001669	NP_001660			0,1	ARSD_HUMAN	ARSD	HGNC	P51689	ARSD_HUMAN					9	1429	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	UPI0000070902	451					SNV	ARSD,synonymous_variant,p.=,ENST00000381154,NM_001669.3;ARSD,synonymous_variant,p.=,ENST00000458014,;ARSD-AS1,downstream_gene_variant,,ENST00000414053,;ARSD,non_coding_transcript_exon_variant,,ENST00000495294,;ARSD,downstream_gene_variant,,ENST00000217890,;	uc004cqy.2	c.1353G>A	1429/5159	2	2			c.1353G>A						23	SNP	c.(1351-1353)TCG>TCA	43	43				0	Broad	arylsulfatase D isoform a precursor			2826829		0.527	ENSG00000006756	970	g.chrX:2826829C>T		lysosome	arylsulfatase activity|metal ion binding							96.213944	KEEP	11	20	-1	15	15	11	20	-1	96.213944	15	15	0.5	1	0	0	0	0	0	0	1	0	--	--		0	T			ARSD_uc004cqz.1_RNA	12	GBM-06-0125-TP	p.S451S	C	ACTCATGTGCCGAGCGTGCCT	NM_001669	NP_001660	2826829	P51689	ARSD_HUMAN	0			9	1429	-	T	T		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	Silent	451						
ARSD	0	broad.mit.edu	GRCh37	X	2840042	2840042	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381154.1:c.218C>G	p.Ala73Gly	p.A73G	ENST00000381154	NM_001669.3	73	gCa/gGa	0			1			C	A/G	uc004cqy.2	protein_coding	YES	CCDS35196.1			218/1782										0	c.(217-219)GCA>GGA			Superfamily_domains:SSF53649,Pfam_domain:PF00884,Gene3D:3.40.720.10,hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF200	arylsulfatase D isoform a precursor				ENSP00000370546		10-Mar									COSM2155195	10-Mar	.		ENST00000381154	Transcript				lysosome	arylsulfatase activity|metal ion binding	ENSG00000006756	g.chrX:2840042G>C	717			MODERATE		3.47	medium	getma.org/?cm=msa&ty=f&p=ARSD_HUMAN&rb=41&re=528&var=A73G	getma.org/pdb.php?prot=ARSD_HUMAN&from=41&to=528&var=A73G	getma.org/?cm=var&var=hg19,X,2840042,G,C&fts=all	A73G	--	--	1																																		ARSD_uc004cqz.1_Intron|ARSD_uc004cra.1_Missense_Mutation_p.A73G|ARSD_uc004crb.3_Missense_Mutation_p.A73G	1	1		probably_damaging(0.965)	p.A73G	NM_001669	NP_001660		deleterious(0)	1	ARSD_HUMAN	ARSD	HGNC	P51689	ARSD_HUMAN					3	294	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	UPI0000070902	73					SNV	ARSD,missense_variant,p.Ala73Gly,ENST00000381154,NM_001669.3;ARSD,non_coding_transcript_exon_variant,,ENST00000217890,;ARSD,intron_variant,,ENST00000495294,;ARSD,upstream_gene_variant,,ENST00000481340,;ARSD,3_prime_UTR_variant,,ENST00000559324,;ARSD,non_coding_transcript_exon_variant,,ENST00000494870,;	uc004cqy.2	c.218C>G	294/5159	3	3			c.218C>G						23	SNP	c.(217-219)GCA>GGA	59	59				0	Broad	arylsulfatase D isoform a precursor			2840042		0.547	ENSG00000006756	970	g.chrX:2840042G>C		lysosome	arylsulfatase activity|metal ion binding							60.76008	KEEP	14	8	-1	23	16	14	8	-1	61.942368	23	16	0.345455	1	0	0	0	0	1	0	0	0	--	--		0	C			ARSD_uc004cqz.1_Intron|ARSD_uc004cra.1_Missense_Mutation_p.A73G|ARSD_uc004crb.3_Missense_Mutation_p.A73G	142	GBM-14-1034-TP	p.A73G	G	ACCTTCCTCTGCAAGCTGGTC	NM_001669	NP_001660	2840042	P51689	ARSD_HUMAN	0			3	294	-	C	C		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	Missense_Mutation	73						
ARSE	0	broad.mit.edu	GRCh37	X	2873479	2873479	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5950-01	TCGA-19-5950-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381134.3:c.285G>A	p.Thr95=	p.T95=	ENST00000381134	NM_000047.2	95	acG/acA	0			1			T	T	uc004crc.3	protein_coding	YES	CCDS14122.1			285/1770									ovary(1)|central_nervous_system(1)	2	c.(283-285)ACG>ACA			Gene3D:3.40.720.10,Pfam_domain:PF00884,PROSITE_patterns:PS00523,hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF63,Superfamily_domains:SSF53649	arylsulfatase E precursor				ENSP00000370526		11-Apr									COSM1467384,COSM3406265	11-Apr	.		ENST00000381134	Transcript	1		skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	ENSG00000157399	g.chrX:2873479C>T	719			LOW								--	--	1																																		ARSE_uc011mhi.1_Silent_p.T41T|ARSE_uc011mhh.1_Silent_p.T120T	1,1	1			p.T95T	NM_000047	NP_000038			1,1	ARSE_HUMAN	ARSE	HGNC	P51690	ARSE_HUMAN			C9J5G7_HUMAN		4	535	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	UPI000049E10C	95					SNV	ARSE,synonymous_variant,p.=,ENST00000545496,NM_001282628.1;ARSE,synonymous_variant,p.=,ENST00000540563,NM_001282631.1;ARSE,synonymous_variant,p.=,ENST00000381134,NM_000047.2;ARSE,synonymous_variant,p.=,ENST00000438544,;ARSE,downstream_gene_variant,,ENST00000496095,;ARSE,upstream_gene_variant,,ENST00000483425,;	uc004crc.3	c.285G>A	352/1853	2	2			c.285G>A						23	SNP	c.(283-285)ACG>ACA	48	48			ovary(1)|central_nervous_system(1)	2	Broad	arylsulfatase E precursor			2873479		0.527	ENSG00000157399	971	g.chrX:2873479C>T	skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding							9.254696	KEEP	1	4	-1	16	15	1	4	-1	13.091423	16	15	0.151515	1	0	0	0	0	0	0	1	0	--	--		0	T			ARSE_uc011mhi.1_Silent_p.T41T|ARSE_uc011mhh.1_Silent_p.T120T	170	GBM-19-5950-TP	p.T95T	C	GGTATCTGCCCGTGAGGAAGG	NM_000047	NP_000038	2873479	P51690	ARSE_HUMAN	0			4	535	-	T	T		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	Silent	95						
ARSE	0	broad.mit.edu	GRCh37	X	2867414	2867414	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01	TCGA-41-3393-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381134.3:c.785C>T	p.Thr262Met	p.T262M	ENST00000381134	NM_000047.2	262	aCg/aTg	0			1			A	T/M	uc004crc.3	protein_coding	YES	CCDS14122.1			785/1770									ovary(1)|central_nervous_system(1)	2	c.(784-786)ACG>ATG			Gene3D:3.40.720.10,Pfam_domain:PF00884,hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF63,Superfamily_domains:SSF53649	arylsulfatase E precursor				ENSP00000370526		11-Jun									COSM3406261,COSM3406262	11-Jun	.		ENST00000381134	Transcript	1		skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	ENSG00000157399	g.chrX:2867414G>A	719			MODERATE		3.125	medium	getma.org/?cm=msa&ty=f&p=ARSE_HUMAN&rb=38&re=525&var=T262M	getma.org/pdb.php?prot=ARSE_HUMAN&from=38&to=525&var=T262M	getma.org/?cm=var&var=hg19,X,2867414,G,A&fts=all	T262M	--	--	1																																		ARSE_uc011mhi.1_Missense_Mutation_p.T208M|ARSE_uc011mhh.1_Missense_Mutation_p.T287M	1,1	1		probably_damaging(0.956)	p.T262M	NM_000047	NP_000038		deleterious(0.01)	1,1	ARSE_HUMAN	ARSE	HGNC	P51690	ARSE_HUMAN			C9J5G7_HUMAN		6	1035	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	UPI000049E10C	262					SNV	ARSE,missense_variant,p.Thr287Met,ENST00000545496,NM_001282628.1;ARSE,missense_variant,p.Thr217Met,ENST00000540563,NM_001282631.1;ARSE,missense_variant,p.Thr262Met,ENST00000381134,NM_000047.2;ARSE,downstream_gene_variant,,ENST00000438544,;ARSE,downstream_gene_variant,,ENST00000483425,;	uc004crc.3	c.785C>T	852/1853	1	1			c.785C>T						23	SNP	c.(784-786)ACG>ATG	58	58			ovary(1)|central_nervous_system(1)	2	Broad	arylsulfatase E precursor			2867414		0.532	ENSG00000157399	971	g.chrX:2867414G>A	skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding							57.440387	KEEP	18	15	-1	81	85	18	15	-1	75.302523	81	85	0.171429	1	0	0	0	0	1	0	0	0	--	--		0	A			ARSE_uc011mhi.1_Missense_Mutation_p.T208M|ARSE_uc011mhh.1_Missense_Mutation_p.T287M	255	GBM-41-3393-TP	p.T262M	G	GGGCTGCTCCGTGATGGTGTG	NM_000047	NP_000038	2867414	P51690	ARSE_HUMAN	0			6	1035	-	A	A		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	Missense_Mutation	262						
ARSE	0	broad.mit.edu	GRCh37	X	2867360	2867360	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01	TCGA-76-4934-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381134.3:c.839C>T	p.Ala280Val	p.A280V	ENST00000381134	NM_000047.2	280	gCg/gTg	0			1			A	A/V	uc004crc.3	protein_coding	YES	CCDS14122.1			839/1770									ovary(1)|central_nervous_system(1)	2	c.(838-840)GCG>GTG			Gene3D:3.40.720.10,Pfam_domain:PF00884,hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF63,Superfamily_domains:SSF53649	arylsulfatase E precursor				ENSP00000370526		11-Jun	2.47E-05					4.20E-05			rs745362620,COSM3406259,COSM3406260	11-Jun	.		ENST00000381134	Transcript	1		skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	ENSG00000157399	g.chrX:2867360G>A	719			MODERATE		-2.075	neutral	getma.org/?cm=msa&ty=f&p=ARSE_HUMAN&rb=38&re=525&var=A280V	getma.org/pdb.php?prot=ARSE_HUMAN&from=38&to=525&var=A280V	getma.org/?cm=var&var=hg19,X,2867360,G,A&fts=all	A280V	--	--	1																																		ARSE_uc011mhi.1_Missense_Mutation_p.A226V|ARSE_uc011mhh.1_Missense_Mutation_p.A305V	0,1,1	1		benign(0.001)	p.A280V	NM_000047	NP_000038		tolerated(1)	0,1,1	ARSE_HUMAN	ARSE	HGNC	P51690	ARSE_HUMAN			C9J5G7_HUMAN		6	1089	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	UPI000049E10C	280					SNV	ARSE,missense_variant,p.Ala305Val,ENST00000545496,NM_001282628.1;ARSE,missense_variant,p.Ala235Val,ENST00000540563,NM_001282631.1;ARSE,missense_variant,p.Ala280Val,ENST00000381134,NM_000047.2;ARSE,downstream_gene_variant,,ENST00000438544,;ARSE,downstream_gene_variant,,ENST00000483425,;	uc004crc.3	c.839C>T	906/1853	2	2			c.839C>T						23	SNP	c.(838-840)GCG>GTG	24	24			ovary(1)|central_nervous_system(1)	2	Broad	arylsulfatase E precursor			2867360		0.453	ENSG00000157399	971	g.chrX:2867360G>A	skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding							75.8883	KEEP	21	16	-1	59	85	21	16	-1	88.486033	59	85	0.207547	1	0	0	0	0	1	0	0	0	--	--		0	A			ARSE_uc011mhi.1_Missense_Mutation_p.A226V|ARSE_uc011mhh.1_Missense_Mutation_p.A305V	272	GBM-76-4934-TP	p.A280V	G	GAGAAAGGACGCAACCTCCTG	NM_000047	NP_000038	2867360	P51690	ARSE_HUMAN	0			6	1089	-	A	A		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	Missense_Mutation	280						
ARSE	415		GRCh37	X	2867744	2867744	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000381134.3:c.455G>C	p.Cys152Ser	p.C152S	ENST00000381134	NM_000047.2	152	tGt/tCt	0																																																																																																																																																																																																																																												
ARSF	416	broad.mit.edu	GRCh37	X	3021960	3021960	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0876-01	TCGA-06-0876-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381127.1:c.1260G>A	p.Gln420=	p.Q420=	ENST00000381127	NM_001201539.1	420	caG/caA	0			1			A	Q	uc004cre.1	protein_coding		CCDS14123.1			1260/1773									ovary(2)	2	c.(1258-1260)CAG>CAA			Superfamily_domains:SSF53649,Gene3D:3.40.720.10,hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF73	arylsulfatase F precursor				ENSP00000352319		11-Sep									COSM2152105	11-Sep	.		ENST00000359361	Transcript				extracellular region	arylsulfatase activity|metal ion binding	ENSG00000062096	g.chrX:3021960G>A	721			LOW								--	--	1																																		ARSF_uc004crf.1_Silent_p.Q420Q	1				p.Q420Q	NM_004042	NP_004033			1	ARSF_HUMAN	ARSF	HGNC	P54793	ARSF_HUMAN					9	1481	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	UPI00001A9629	420					SNV	ARSF,synonymous_variant,p.=,ENST00000381127,NM_001201539.1,NM_001201538.1;ARSF,synonymous_variant,p.=,ENST00000359361,NM_004042.4;ARSF,synonymous_variant,p.=,ENST00000537104,;	uc004cre.1	c.1260G>A	1328/1991	2	2			c.1260G>A						23	SNP	c.(1258-1260)CAG>CAA	45	45			ovary(2)	2	Broad	arylsulfatase F precursor			3021960		0.448	ENSG00000062096	972	g.chrX:3021960G>A		extracellular region	arylsulfatase activity|metal ion binding							172.99159	KEEP	35	22	-1	52	20	35	22	-1	173.220098	52	20	0.452174	1	0	0	0	0	0	0	1	0	--	--		0	A			ARSF_uc004crf.1_Silent_p.Q420Q	72	GBM-06-0876-TP	p.Q420Q	G	GTCTCCCTCAGGACAGGTGAT	NM_004042	NP_004033	3021960	P54793	ARSF_HUMAN	0			9	1481	+	A	A		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	Silent	420						
ARSF	0	broad.mit.edu	GRCh37	X	2994636	2994636	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-27-2519-01	TCGA-27-2519-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359361.2:c.209A>C	p.Gln70Pro	p.Q70P	ENST00000359361	NM_004042.4	70	cAg/cCg	0			1			C	Q/P	uc004cre.1	protein_coding		CCDS14123.1			209/1773									ovary(2)	2	c.(208-210)CAG>CCG			Superfamily_domains:SSF53649,Pfam_domain:PF00884,Gene3D:3.40.720.10,hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF73	arylsulfatase F precursor				ENSP00000352319		11-Apr									COSM3406267	11-Apr	.		ENST00000359361	Transcript				extracellular region	arylsulfatase activity|metal ion binding	ENSG00000062096	g.chrX:2994636A>C	721			MODERATE		4.245	high	getma.org/?cm=msa&ty=f&p=ARSF_HUMAN&rb=30&re=518&var=Q70P	getma.org/pdb.php?prot=ARSF_HUMAN&from=30&to=518&var=Q70P	getma.org/?cm=var&var=hg19,X,2994636,A,C&fts=all	Q70P	--	--	1																																		ARSF_uc004crf.1_Missense_Mutation_p.Q70P	1			probably_damaging(0.996)	p.Q70P	NM_004042	NP_004033		deleterious(0)	1	ARSF_HUMAN	ARSF	HGNC	P54793	ARSF_HUMAN					4	430	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	UPI00001A9629	70					SNV	ARSF,missense_variant,p.Gln70Pro,ENST00000381127,NM_001201539.1,NM_001201538.1;ARSF,missense_variant,p.Gln70Pro,ENST00000359361,NM_004042.4;ARSF,missense_variant,p.Gln70Pro,ENST00000537104,;	uc004cre.1	c.209A>C	277/1991	3	3			c.209A>C						23	SNP	c.(208-210)CAG>CCG	55	55			ovary(2)	2	Broad	arylsulfatase F precursor			2994636		0.483	ENSG00000062096	972	g.chrX:2994636A>C		extracellular region	arylsulfatase activity|metal ion binding							57.605286	KEEP	9	7	-1	5	7	9	7	-1	57.807638	5	7	0.592593	1	0	0	0	0	1	0	0	0	--	--		0	C			ARSF_uc004crf.1_Missense_Mutation_p.Q70P	199	GBM-27-2519-TP	p.Q70P	A	CGACTGACTCAGCACATCTCT	NM_004042	NP_004033	2994636	P54793	ARSF_HUMAN	0			4	430	+	C	C		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	Missense_Mutation	70						
ARSF	0	broad.mit.edu	GRCh37	X	3021841	3021841	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01	TCGA-76-4928-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359361.2:c.1141G>A	p.Val381Ile	p.V381I	ENST00000359361	NM_004042.4	381	Gtc/Atc	0			1			A	V/I	uc004cre.1	protein_coding		CCDS14123.1			1141/1773									ovary(2)	2	c.(1141-1143)GTC>ATC			Superfamily_domains:SSF53649,Pfam_domain:PF00884,Gene3D:3.40.720.10,hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF73	arylsulfatase F precursor				ENSP00000352319		11-Sep	0.000231		0.00172	0.000151		0.000104		9.91E-05	rs750918889,COSM166442	11-Sep	common_variant		ENST00000359361	Transcript				extracellular region	arylsulfatase activity|metal ion binding	ENSG00000062096	g.chrX:3021841G>A	721			MODERATE		2.765	medium	getma.org/?cm=msa&ty=f&p=ARSF_HUMAN&rb=30&re=518&var=V381I	getma.org/pdb.php?prot=ARSF_HUMAN&from=30&to=518&var=V381I	getma.org/?cm=var&var=hg19,X,3021841,G,A&fts=all	V381I	--	--	1																																		ARSF_uc004crf.1_Missense_Mutation_p.V381I	0,1			probably_damaging(0.999)	p.V381I	NM_004042	NP_004033		tolerated(0.06)	0,1	ARSF_HUMAN	ARSF	HGNC	P54793	ARSF_HUMAN					9	1362	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	UPI00001A9629	381					SNV	ARSF,missense_variant,p.Val381Ile,ENST00000381127,NM_001201539.1,NM_001201538.1;ARSF,missense_variant,p.Val381Ile,ENST00000359361,NM_004042.4;ARSF,missense_variant,p.Val381Ile,ENST00000537104,;	uc004cre.1	c.1141G>A	1209/1991	1	1			c.1141G>A						23	SNP	c.(1141-1143)GTC>ATC	55	55			ovary(2)	2	Broad	arylsulfatase F precursor			3021841		0.438	ENSG00000062096	972	g.chrX:3021841G>A		extracellular region	arylsulfatase activity|metal ion binding							47.990653	KEEP	31	13	-1	86	103	31	13	-1	70.519681	86	103	0.155779	1	0	0	0	0	1	0	0	0	--	--		0	A			ARSF_uc004crf.1_Missense_Mutation_p.V381I	268	GBM-76-4928-TP	p.V381I	G	TGGAATCCGCGTCCCAGGAAT	NM_004042	NP_004033	3021841	P54793	ARSF_HUMAN	0			9	1362	+	A	A		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	Missense_Mutation	381						
ARSG	22901	broad.mit.edu	GRCh37	17	66391258	66391258	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01	TCGA-02-0047-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000448504.2:c.1136G>A	p.Ser379Asn	p.S379N	ENST00000448504	NM_014960.4	379	aGc/aAc	0			1			A	S/N	uc002jhc.2	protein_coding	YES	CCDS11676.1			1136/1578									ovary(1)	1	c.(1135-1137)AGC>AAC			Superfamily_domains:SSF53649,Gene3D:3.40.720.10,hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF186	Arylsulfatase G precursor				ENSP00000407193		12-Oct									COSM2149014	12-Oct	.		ENST00000448504	Transcript			sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding	ENSG00000141337	g.chr17:66391258G>A	24102			MODERATE		1.465	low	getma.org/?cm=msa&ty=f&p=ARSG_HUMAN&rb=36&re=467&var=S379N	getma.org/pdb.php?prot=ARSG_HUMAN&from=36&to=467&var=S379N	getma.org/?cm=var&var=hg19,17,66391258,G,A&fts=all	S379N	--	--	1																																		ARSG_uc002jhb.1_Missense_Mutation_p.S215N	1	1		benign(0.082)	p.S379N	NM_014960	NP_055775		tolerated(0.21)	1	ARSG_HUMAN	ARSG	HGNC	Q96EG1	ARSG_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		J9JIG6_HUMAN,J3KS49_HUMAN		10	1932	+			UPI000003FD81	379					SNV	ARSG,missense_variant,p.Ser379Asn,ENST00000448504,NM_014960.4;ARSG,missense_variant,p.Ser215Asn,ENST00000452479,NM_001267727.1;ARSG,non_coding_transcript_exon_variant,,ENST00000582154,;	uc002jhc.2	c.1136G>A	1932/4642	2	2			c.1136G>A						17	SNP	c.(1135-1137)AGC>AAC	35	35			ovary(1)	1	Broad	Arylsulfatase G precursor			66391258		0.587	ENSG00000141337	973	g.chr17:66391258G>A	sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding							129.107756	KEEP	22	27	-1	78	65	22	27	-1	138.468555	78	65	0.262295	1	0	0	0	0	1	0	0	0	--	--		0	A			ARSG_uc002jhb.1_Missense_Mutation_p.S215N	3	GBM-02-0047-TP	p.S379N	G	GCCCAGGCCAGCTTACCTCAA	NM_014960	NP_055775	66391258	Q96EG1	ARSG_HUMAN	0	BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		10	1932	+	A	A			Missense_Mutation	379						
ARSH	0	broad.mit.edu	GRCh37	X	2931164	2931164	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5951-01	TCGA-19-5951-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381130.2:c.291G>A	p.Thr97=	p.T97=	ENST00000381130	NM_001011719.1	97	acG/acA	0			1			A	T	uc011mhj.1	protein_coding	YES	CCDS35198.1			291/1689									lung(1)	1	c.(289-291)ACG>ACA			Superfamily_domains:SSF53649,Gene3D:3.40.720.10,Pfam_domain:PF00884,hmmpanther:PTHR10342:SF72,hmmpanther:PTHR10342	arylsulfatase family, member H				ENSP00000370522		9-Mar									rs745786885,COSM2156661	9-Mar	.		ENST00000381130	Transcript				integral to membrane	arylsulfatase activity|metal ion binding	ENSG00000205667	g.chrX:2931164G>A	32488			LOW								--	--	1																																			0,1	1			p.T97T	NM_001011719	NP_001011719			0,1	ARSH_HUMAN	ARSH	HGNC	Q5FYA8	ARSH_HUMAN					3	291	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	UPI00001D7C2E	97					SNV	ARSH,synonymous_variant,p.=,ENST00000381130,NM_001011719.1;	uc011mhj.1	c.291G>A	291/1875	2	2			c.291G>A						23	SNP	c.(289-291)ACG>ACA	45	45			lung(1)	1	Broad	arylsulfatase family, member H			2931164		0.552	ENSG00000205667	974	g.chrX:2931164G>A		integral to membrane	arylsulfatase activity|metal ion binding							172.28284	KEEP	21	42	-1	51	52	21	42	-1	174.184078	51	52	0.380645	1	0	0	0	0	0	0	1	0	--	--		0	A				171	GBM-19-5951-TP	p.T97T	G	CCAATGAAACGACTTTTGCCA	NM_001011719	NP_001011719	2931164	Q5FYA8	ARSH_HUMAN	0			3	291	+	A	A		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	Silent	97						
ARSH	0	broad.mit.edu	GRCh37	X	2933417	2933417	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-32-2495-01	TCGA-32-2495-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381130.2:c.747A>G	p.Ala249=	p.A249=	ENST00000381130	NM_001011719.1	249	gcA/gcG	0			1			G	A	uc011mhj.1	protein_coding	YES	CCDS35198.1			747/1689									lung(1)	1	c.(745-747)GCA>GCG			Superfamily_domains:SSF53649,Gene3D:3.40.720.10,Pfam_domain:PF00884,hmmpanther:PTHR10342:SF72,hmmpanther:PTHR10342	arylsulfatase family, member H				ENSP00000370522		9-Apr									COSM3406266	9-Apr	.		ENST00000381130	Transcript				integral to membrane	arylsulfatase activity|metal ion binding	ENSG00000205667	g.chrX:2933417A>G	32488			LOW								--	--	1																																			1	1			p.A249A	NM_001011719	NP_001011719			1	ARSH_HUMAN	ARSH	HGNC	Q5FYA8	ARSH_HUMAN					4	747	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	UPI00001D7C2E	249					SNV	ARSH,synonymous_variant,p.=,ENST00000381130,NM_001011719.1;	uc011mhj.1	c.747A>G	747/1875	3	3			c.747A>G						23	SNP	c.(745-747)GCA>GCG	1	1			lung(1)	1	Broad	arylsulfatase family, member H			2933417		0.398	ENSG00000205667	974	g.chrX:2933417A>G		integral to membrane	arylsulfatase activity|metal ion binding							-23.216524	KEEP	2	3	-1	87	77	2	3	-1	9.873614	87	77	0.029412	1	0	0	0	0	0	0	1	0	--	--		0	G				237	GBM-32-2495-TP	p.A249A	A	TGAAGGAGGCACTTGCTTTCA	NM_001011719	NP_001011719	2933417	Q5FYA8	ARSH_HUMAN	0			4	747	+	G	G		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	Silent	249						
ARSK	0	broad.mit.edu	GRCh37	5	94936730	94936730	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-14-1456-01	TCGA-14-1456-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380009.4:c.1276T>C	p.Tyr426His	p.Y426H	ENST00000380009	NM_198150.2	426	Tat/Cat	0			1			C	Y/H	uc003kld.2	protein_coding	YES	CCDS4073.1			1276/1611									pancreas(1)	1	c.(1276-1278)TAT>CAT			hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF192,Gene3D:3.30.1120.10,Superfamily_domains:SSF53649	arylsulfatase K precursor				ENSP00000369346		8-Jul									COSM2155632	8-Jul	.		ENST00000380009	Transcript				extracellular region	arylsulfatase activity|metal ion binding	ENSG00000164291	g.chr5:94936730T>C	25239			MODERATE		3.245	medium	getma.org/?cm=msa&ty=f&p=ARSK_HUMAN&rb=32&re=451&var=Y426H	getma.org/pdb.php?prot=ARSK_HUMAN&from=32&to=451&var=Y426H	getma.org/?cm=var&var=hg19,5,94936730,T,C&fts=all	Y426H	--	--	1																																		ARSK_uc010jbg.2_Missense_Mutation_p.Y267H|ARSK_uc011cum.1_RNA	1	1		probably_damaging(1)	p.Y426H	NM_198150	NP_937793		deleterious(0)	1	ARSK_HUMAN	ARSK	HGNC	Q6UWY0	ARSK_HUMAN		all cancers(79;6.5e-16)			7	1434	+		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)	UPI000004C65F	426					SNV	ARSK,missense_variant,p.Tyr426His,ENST00000380009,NM_198150.2;ARSK,3_prime_UTR_variant,,ENST00000513814,;ARSK,3_prime_UTR_variant,,ENST00000504873,;	uc003kld.2	c.1276T>C	1481/3354	3	3			c.1276T>C						5	SNP	c.(1276-1278)TAT>CAT	7	7			pancreas(1)	1	Broad	arylsulfatase K precursor			94936730		0.343	ENSG00000164291	977	g.chr5:94936730T>C		extracellular region	arylsulfatase activity|metal ion binding							360.367001	KEEP	59	59	-1	71	97	59	59	-1	361.819104	71	97	0.416667	1	0	0	0	0	1	0	0	0	--	--		0	C			ARSK_uc010jbg.2_Missense_Mutation_p.Y267H|ARSK_uc011cum.1_RNA	146	GBM-14-1456-TP	p.Y426H	T	CCACTGGAAATATATAGCCTA	NM_198150	NP_937793	94936730	Q6UWY0	ARSK_HUMAN	0		all cancers(79;6.5e-16)	7	1434	+	C	C		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)	Missense_Mutation	426						
ARSK	0	broad.mit.edu	GRCh37	5	94918696	94918696	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01	TCGA-16-1045-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380009.4:c.493C>T	p.Arg165Cys	p.R165C	ENST00000380009	NM_198150.2	165	Cgt/Tgt	0			1			T	R/C	uc003kld.2	protein_coding	YES	CCDS4073.1			493/1611									pancreas(1)	1	c.(493-495)CGT>TGT			hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF192,Pfam_domain:PF00884,Gene3D:3.40.720.10,Superfamily_domains:SSF53649	arylsulfatase K precursor				ENSP00000369346		8-Apr	1.65E-05					3.00E-05			rs780890433,COSM1071367	8-Apr	.		ENST00000380009	Transcript				extracellular region	arylsulfatase activity|metal ion binding	ENSG00000164291	g.chr5:94918696C>T	25239			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=ARSK_HUMAN&rb=32&re=451&var=R165C	getma.org/pdb.php?prot=ARSK_HUMAN&from=32&to=451&var=R165C	getma.org/?cm=var&var=hg19,5,94918696,C,T&fts=all	R165C	--	--	1																																		ARSK_uc010jbg.2_Missense_Mutation_p.R6C|ARSK_uc011cum.1_RNA	0,1	1		benign(0.05)	p.R165C	NM_198150	NP_937793		deleterious(0.01)	0,1	ARSK_HUMAN	ARSK	HGNC	Q6UWY0	ARSK_HUMAN		all cancers(79;6.5e-16)			4	651	+		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)	UPI000004C65F	165					SNV	ARSK,missense_variant,p.Arg165Cys,ENST00000380009,NM_198150.2;ARSK,missense_variant,p.Arg165Cys,ENST00000504873,;ARSK,synonymous_variant,p.=,ENST00000512106,;ARSK,3_prime_UTR_variant,,ENST00000513814,;	uc003kld.2	c.493C>T	698/3354	1	1			c.493C>T						5	SNP	c.(493-495)CGT>TGT	11	11			pancreas(1)	1	Broad	arylsulfatase K precursor			94918696		0.418	ENSG00000164291	977	g.chr5:94918696C>T		extracellular region	arylsulfatase activity|metal ion binding							34.419649	KEEP	16	18	-1	141	132	16	18	-1	79.640521	141	132	0.105802	1	0	0	0	0	1	0	0	0	--	--		0	T			ARSK_uc010jbg.2_Missense_Mutation_p.R6C|ARSK_uc011cum.1_RNA	157	GBM-16-1045-TP	p.R165C	C	TAATCTTATCCGTAACAGGAC	NM_198150	NP_937793	94918696	Q6UWY0	ARSK_HUMAN	0		all cancers(79;6.5e-16)	4	651	+	T	T		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)	Missense_Mutation	165						
ART1	417	broad.mit.edu	GRCh37	11	3681476	3681476	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0745-01	TCGA-06-0745-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000250693.1:c.727A>T	p.Ile243Phe	p.I243F	ENST00000250693	NM_004314.2	243	Atc/Ttc	0			1			T	I/F	uc001lye.1	protein_coding	YES	CCDS7744.1			727/984										0	c.(727-729)ATC>TTC			hmmpanther:PTHR10339:SF19,hmmpanther:PTHR10339,Gene3D:3.90.176.10,Pfam_domain:PF01129,Superfamily_domains:SSF56399,Prints_domain:PR00970	ADP-ribosyltransferase 1 precursor	Becaplermin(DB00102)			ENSP00000250693		5-Mar									COSM2151717	5-Mar	.		ENST00000250693	Transcript			protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	ENSG00000129744	g.chr11:3681476A>T	723			MODERATE		2.525	medium	getma.org/?cm=msa&ty=f&p=NAR1_HUMAN&rb=39&re=274&var=I243F	getma.org/pdb.php?prot=NAR1_HUMAN&from=39&to=274&var=I243F	getma.org/?cm=var&var=hg19,11,3681476,A,T&fts=all	I243F	--	--	1																																		ART1_uc009yeb.1_Missense_Mutation_p.I243F	1	1		probably_damaging(0.999)	p.I243F	NM_004314	NP_004305		deleterious(0)	1	NAR1_HUMAN	ART1	HGNC	P52961	NAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)			3	828	+		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	UPI000013CCC8	243					SNV	ART1,missense_variant,p.Ile243Phe,ENST00000250693,NM_004314.2;Y_RNA,downstream_gene_variant,,ENST00000364409,;Y_RNA,downstream_gene_variant,,ENST00000363331,;ART1,downstream_gene_variant,,ENST00000529556,;	uc001lye.1	c.727A>T	828/1312	1	1			c.727A>T						11	SNP	c.(727-729)ATC>TTC	4	4				0	Broad	ADP-ribosyltransferase 1 precursor		Becaplermin(DB00102)	3681476		0.607	ENSG00000129744	978	g.chr11:3681476A>T	protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity							126.939726	KEEP	26	22	-1	44	48	26	22	-1	129.77135	44	48	0.343511	1	0	0	0	0	1	0	0	0	--	--		0	T			ART1_uc009yeb.1_Missense_Mutation_p.I243F	67	GBM-06-0745-TP	p.I243F	A	AGAGGTGCTGATCCCCCCCTT	NM_004314	NP_004305	3681476	P52961	NAR1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	3	828	+	T	T		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	Missense_Mutation	243						
ART1	0	broad.mit.edu	GRCh37	11	3681258	3681258	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs141732093		TCGA-76-4925-01	TCGA-76-4925-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000250693.1:c.509G>A	p.Arg170His	p.R170H	ENST00000250693	NM_004314.2	170	cGt/cAt	0	C:0.0002		1			A	R/H	uc001lye.1	protein_coding	YES	CCDS7744.1			509/984										0	c.(508-510)CGT>CAT			hmmpanther:PTHR10339:SF19,hmmpanther:PTHR10339,Gene3D:3.90.176.10,Pfam_domain:PF01129,Superfamily_domains:SSF56399	ADP-ribosyltransferase 1 precursor	Becaplermin(DB00102)		C:0.0006	ENSP00000250693		5-Mar	4.12E-05		8.72E-05	0.000117				0.000182	rs141732093,COSM2157501	5-Mar	.		ENST00000250693	Transcript			protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	ENSG00000129744	g.chr11:3681258G>A	723			MODERATE		1.295	low	getma.org/?cm=msa&ty=f&p=NAR1_HUMAN&rb=39&re=274&var=R170H	getma.org/pdb.php?prot=NAR1_HUMAN&from=39&to=274&var=R170H	getma.org/?cm=var&var=hg19,11,3681258,G,A&fts=all	R170H	--	--	1																																		ART1_uc009yeb.1_Missense_Mutation_p.R170H	0,1	1		benign(0.004)	p.R170H	NM_004314	NP_004305		tolerated(0.17)	0,1	NAR1_HUMAN	ART1	HGNC	P52961	NAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)			3	610	+		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	UPI000013CCC8	170					SNV	ART1,missense_variant,p.Arg170His,ENST00000250693,NM_004314.2;Y_RNA,downstream_gene_variant,,ENST00000364409,;ART1,downstream_gene_variant,,ENST00000529556,;	uc001lye.1	c.509G>A	610/1312	2	2			c.509G>A						11	SNP	c.(508-510)CGT>CAT	40	40				0	Broad	ADP-ribosyltransferase 1 precursor		Becaplermin(DB00102)	3681258		0.701	ENSG00000129744	978	g.chr11:3681258G>A	protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity							58.341471	KEEP	11	25	-1	27	29	11	25	-1	60.145511	27	29	0.328571	1	0	0	0	0	1	0	0	0	--	--		0	A			ART1_uc009yeb.1_Missense_Mutation_p.R170H	265	GBM-76-4925-TP	p.R170H	G	AGCGGCCAGCGTCCACCCCGG	NM_004314	NP_004305	3681258	P52961	NAR1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	3	610	+	A	A		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	Missense_Mutation	170						
ART4	0	broad.mit.edu	GRCh37	12	14993552	14993552	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01	TCGA-76-4934-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000228936.4:c.680C>T	p.Thr227Ile	p.T227I	ENST00000228936	NM_021071.2	227	aCc/aTc	0			1			A	T/I	uc001rcl.1	protein_coding	YES	CCDS8668.1			680/945										0	c.(679-681)ACC>ATC			hmmpanther:PTHR10339:SF1,hmmpanther:PTHR10339,Pfam_domain:PF01129,Gene3D:3.90.176.10,Superfamily_domains:SSF56399,Prints_domain:PR00970	ADP-ribosyltransferase 4 precursor				ENSP00000228936		3-Feb									COSM3398572	3-Feb	.		ENST00000228936	Transcript	1		arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	ENSG00000111339	g.chr12:14993552G>A	726			MODERATE		2.2	medium	getma.org/?cm=msa&ty=f&p=NAR4_HUMAN&rb=55&re=277&var=T227I	getma.org/pdb.php?prot=NAR4_HUMAN&from=55&to=277&var=T227I	getma.org/?cm=var&var=hg19,12,14993552,G,A&fts=all	T227I	--	--	1																																		ART4_uc009zid.1_Intron|ART4_uc009zie.1_Intron|ART4_uc001rcm.1_Missense_Mutation_p.T227I	1	1		possibly_damaging(0.867)	p.T227I	NM_021071	NP_066549		deleterious(0.04)	1	NAR4_HUMAN	ART4	HGNC	Q93070	NAR4_HUMAN			Q3KZ27_HUMAN		2	1046	-			UPI000004A87C	227					SNV	ART4,missense_variant,p.Thr227Ile,ENST00000228936,NM_021071.2;ART4,missense_variant,p.Thr210Ile,ENST00000420600,;ART4,intron_variant,,ENST00000430129,;ART4,intron_variant,,ENST00000544616,;RP11-233G1.4,upstream_gene_variant,,ENST00000444324,;C12orf60,intron_variant,,ENST00000527783,;C12orf60,intron_variant,,ENST00000533472,;	uc001rcl.1	c.680C>T	1062/5129	2	2			c.680C>T						12	SNP	c.(679-681)ACC>ATC	17	17				0	Broad	ADP-ribosyltransferase 4 precursor			14993552		0.463	ENSG00000111339	980	g.chr12:14993552G>A	arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity							137.526229	KEEP	24	31	-1	57	52	24	31	-1	140.538889	57	52	0.34507	1	0	0	0	0	1	0	0	0	--	--		0	A			ART4_uc009zid.1_Intron|ART4_uc009zie.1_Intron|ART4_uc001rcm.1_Missense_Mutation_p.T227I	272	GBM-76-4934-TP	p.T227I	G	GGTGAATATGGTAAATAGTGT	NM_021071	NP_066549	14993552	Q93070	NAR4_HUMAN	0			2	1046	-	A	A			Missense_Mutation	227						
AS3MT	0	broad.mit.edu	GRCh37	10	104638210	104638210	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01	TCGA-19-2620-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369880.3:c.685C>T	p.Arg229Cys	p.R229C	ENST00000369880	NM_020682.3	229	Cgt/Tgt	0			1			T	R/C	uc001kwk.2	protein_coding	YES	CCDS41567.1			685/1128										0	c.(685-687)CGT>TGT			Gene3D:3.40.50.150,hmmpanther:PTHR10108,hmmpanther:PTHR10108:SF11,Superfamily_domains:SSF53335	arsenic (+3 oxidation state) methyltransferase				ENSP00000358896		11-Aug	8.28E-06					1.50E-05			rs756399134,COSM3396889	11-Aug	.		ENST00000369880	Transcript			arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity	ENSG00000214435	g.chr10:104638210C>T	17452			MODERATE		2.705	medium	getma.org/?cm=msa&ty=f&p=AS3MT_HUMAN&rb=68&re=245&var=R229C	getma.org/pdb.php?prot=AS3MT_HUMAN&from=68&to=245&var=R229C	getma.org/?cm=var&var=hg19,10,104638210,C,T&fts=all	R229C	--	--	1																																		AS3MT_uc001kwj.2_Missense_Mutation_p.R231C|AS3MT_uc009xxh.2_Missense_Mutation_p.R229C	0,1	1		possibly_damaging(0.528)	p.R229C	NM_020682	NP_065733		tolerated(0.17)	0,1	AS3MT_HUMAN	AS3MT	HGNC	Q9HBK9	AS3MT_HUMAN		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)			8	825	+		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)	UPI00001F9660	229					SNV	AS3MT,missense_variant,p.Arg229Cys,ENST00000369880,NM_020682.3;C10orf32-ASMT,3_prime_UTR_variant,,ENST00000299353,;	uc001kwk.2	c.685C>T	762/2404	2	2			c.685C>T						10	SNP	c.(685-687)CGT>TGT	22	22				0	Broad	arsenic (+3 oxidation state) methyltransferase			104638210		0.408	ENSG00000214435	985	g.chr10:104638210C>T	arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity							271.04835	KEEP	68	22	-1	62	22	68	22	-1	271.06906	62	22	0.511905	1	0	0	0	0	1	0	0	0	--	--		0	T			AS3MT_uc001kwj.2_Missense_Mutation_p.R231C|AS3MT_uc009xxh.2_Missense_Mutation_p.R229C	162	GBM-19-2620-TP	p.R229C	C	CTGCCCTCCACGTTTGGTCAC	NM_020682	NP_065733	104638210	Q9HBK9	AS3MT_HUMAN	0		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)	8	825	+	T	T		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)	Missense_Mutation	229						
ASAP1	50807	broad.mit.edu	GRCh37	8	131124496	131124496	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0166-01	TCGA-06-0166-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357668.1:c.2245G>C	p.Asp749His	p.D749H	ENST00000357668		749	Gac/Cac	0			1			G	D/H	uc003yta.1	protein_coding		CCDS6362.1			2245/3390									ovary(4)	4	c.(2245-2247)GAC>CAC			hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF192	development and differentiation enhancing factor				ENSP00000429900		24/30									COSM3412753	24/30	.		ENST00000518721	Transcript			cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	ENSG00000153317	g.chr8:131124496C>G	2720			MODERATE		0.84	low	getma.org/?cm=msa&ty=f&p=ASAP1_HUMAN&rb=668&re=867&var=D749H	NA	getma.org/?cm=var&var=hg19,8,131124496,C,G&fts=all	D749H	--	--	1																																		ASAP1_uc003ysz.1_Missense_Mutation_p.D560H|ASAP1_uc011liw.1_Missense_Mutation_p.D742H	1			possibly_damaging(0.67)	p.D749H	NM_018482	NP_060952		tolerated(0.1)	1	ASAP1_HUMAN	ASAP1	HGNC	Q9ULH1	ASAP1_HUMAN			E5RFD9_HUMAN		23	2273	-			UPI0000351D6E	749					SNV	ASAP1,missense_variant,p.Asp749His,ENST00000357668,;ASAP1,missense_variant,p.Asp749His,ENST00000518721,NM_001247996.1,NM_018482.3;ASAP1,missense_variant,p.Asp570His,ENST00000524124,;ASAP1,missense_variant,p.Asp163His,ENST00000519483,;ASAP1,3_prime_UTR_variant,,ENST00000521075,;ASAP1,non_coding_transcript_exon_variant,,ENST00000520189,;ASAP1,downstream_gene_variant,,ENST00000521057,;	uc003yta.1	c.2245G>C	2473/5507	3	3			c.2245G>C						8	SNP	c.(2245-2247)GAC>CAC	3	3			ovary(4)	4	Broad	development and differentiation enhancing factor			131124496		0.542	ENSG00000153317	989	g.chr8:131124496C>G	cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding							-13.691213	KEEP	5	6	-1	92	76	5	6	-1	16.178303	92	76	0.05036	1	0	0	0	0	1	0	0	0	--	--		0	G			ASAP1_uc003ysz.1_Missense_Mutation_p.D560H|ASAP1_uc011liw.1_Missense_Mutation_p.D742H	31	GBM-06-0166-TP	p.D749H	C	GCCAGCTTGTCCTGGGGGGAG	NM_018482	NP_060952	131124496	Q9ULH1	ASAP1_HUMAN	0			23	2273	-	G	G			Missense_Mutation	749						
ASAP1	50807	broad.mit.edu	GRCh37	8	131414154	131414154	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-0939-01	TCGA-06-0939-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357668.1:c.36G>T	p.Ser12=	p.S12=	ENST00000357668		12	tcG/tcT	0			1			A	S	uc003yta.1	protein_coding		CCDS6362.1			36/3390									ovary(4)	4	c.(34-36)TCG>TCT			Low_complexity_(Seg):seg	development and differentiation enhancing factor				ENSP00000429900		Feb-30									COSM3412755	Feb-30	.		ENST00000518721	Transcript			cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	ENSG00000153317	g.chr8:131414154C>A	2720			LOW								--	--	1																																		ASAP1_uc011liw.1_5'UTR	1				p.S12S	NM_018482	NP_060952			1	ASAP1_HUMAN	ASAP1	HGNC	Q9ULH1	ASAP1_HUMAN			E5RFD9_HUMAN		1	64	-			UPI0000351D6E	12					SNV	ASAP1,synonymous_variant,p.=,ENST00000357668,;ASAP1,synonymous_variant,p.=,ENST00000518721,NM_001247996.1,NM_018482.3;ASAP1,non_coding_transcript_exon_variant,,ENST00000520625,;ASAP1,synonymous_variant,p.=,ENST00000521075,;ASAP1,synonymous_variant,p.=,ENST00000520927,;ASAP1,synonymous_variant,p.=,ENST00000524299,;	uc003yta.1	c.36G>T	264/5507	1	1			c.36G>T						8	SNP	c.(34-36)TCG>TCT	64	64			ovary(4)	4	Broad	development and differentiation enhancing factor			131414154		0.502	ENSG00000153317	989	g.chr8:131414154C>A	cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding							-15.552768	KEEP	4	1	0.2	67	43	4	1	0.2	6.39421	67	43	0.032609	1	0	0	0	0	0	0	1	0	--	--		0	A			ASAP1_uc011liw.1_5'UTR	78	GBM-06-0939-TP	p.S12S	C	AATCTCTCGACGAAAAACTGG	NM_018482	NP_060952	131414154	Q9ULH1	ASAP1_HUMAN	0			1	64	-	A	A			Silent	12						
ASAP1	0	broad.mit.edu	GRCh37	8	131140283	131140283	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01	TCGA-28-2502-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000518721.1:c.1271G>A	p.Arg424His	p.R424H	ENST00000518721	NM_001247996.1	424	cGt/cAt	0			1			T	R/H	uc003yta.1	protein_coding		CCDS6362.1			1271/3390									ovary(4)	4	c.(1270-1272)CGT>CAT			hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF192,Superfamily_domains:SSF50729	development and differentiation enhancing factor				ENSP00000429900		16/30	2.47E-05					3.00E-05		6.06E-05	rs760787804,COSM3412754	16/30	.		ENST00000518721	Transcript			cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	ENSG00000153317	g.chr8:131140283C>T	2720			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=ASAP1_HUMAN&rb=387&re=468&var=R424H	getma.org/pdb.php?prot=ASAP1_HUMAN&from=417&to=438&var=R424H	getma.org/?cm=var&var=hg19,8,131140283,C,T&fts=all	R424H	--	--	1																																		ASAP1_uc003ysz.1_Missense_Mutation_p.R235H|ASAP1_uc011liw.1_Missense_Mutation_p.R417H	0,1			benign(0.217)	p.R424H	NM_018482	NP_060952		tolerated(0.06)	0,1	ASAP1_HUMAN	ASAP1	HGNC	Q9ULH1	ASAP1_HUMAN			E5RFD9_HUMAN		15	1299	-			UPI0000351D6E	424					SNV	ASAP1,missense_variant,p.Arg424His,ENST00000357668,;ASAP1,missense_variant,p.Arg424His,ENST00000518721,NM_001247996.1,NM_018482.3;ASAP1,missense_variant,p.Arg245His,ENST00000524124,;ASAP1,3_prime_UTR_variant,,ENST00000521075,;	uc003yta.1	c.1271G>A	1499/5507	2	2			c.1271G>A						8	SNP	c.(1270-1272)CGT>CAT	30	30			ovary(4)	4	Broad	development and differentiation enhancing factor			131140283		0.458	ENSG00000153317	989	g.chr8:131140283C>T	cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding							42.042537	KEEP	9	13	-1	39	57	9	13	-1	52.073914	39	57	0.185185	1	0	0	0	0	1	0	0	0	--	--		0	T			ASAP1_uc003ysz.1_Missense_Mutation_p.R235H|ASAP1_uc011liw.1_Missense_Mutation_p.R417H	210	GBM-28-2502-TP	p.R424H	C	CTGCTCTCCACGGAAGGCCAT	NM_018482	NP_060952	131140283	Q9ULH1	ASAP1_HUMAN	0			15	1299	-	T	T			Missense_Mutation	424						
ASAP2	8853	broad.mit.edu	GRCh37	2	9517083	9517083	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281419.3:c.1793G>A	p.Arg598Gln	p.R598Q	ENST00000281419	NM_003887.2	598	cGa/cAa	0			1			A	R/Q	uc002qzh.2	protein_coding	YES	CCDS1661.1			1793/3021										0	c.(1792-1794)CGA>CAA			Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF238,PROSITE_profiles:PS50297	ArfGAP with SH3 domain, ankyrin repeat and PH				ENSP00000281419		18/28									COSM3408032	18/28	.		ENST00000281419	Transcript			regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	ENSG00000151693	g.chr2:9517083G>A	2721			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=ASAP2_HUMAN&rb=540&re=619&var=R598Q	getma.org/pdb.php?prot=ASAP2_HUMAN&from=540&to=619&var=R598Q	getma.org/?cm=var&var=hg19,2,9517083,G,A&fts=all	R598Q	--	--	1																																		ASAP2_uc002qzi.2_Missense_Mutation_p.R598Q	1	1		benign(0.167)	p.R598Q	NM_003887	NP_003878		tolerated(0.46)	1	ASAP2_HUMAN	ASAP2	HGNC	O43150	ASAP2_HUMAN			Q53RT9_HUMAN,Q53RS3_HUMAN,Q53R39_HUMAN		18	2133	+			UPI0000073459	598			ANK 1.		SNV	ASAP2,missense_variant,p.Arg598Gln,ENST00000281419,NM_003887.2;ASAP2,missense_variant,p.Arg598Gln,ENST00000315273,NM_001135191.1;	uc002qzh.2	c.1793G>A	2133/5712	2	2			c.1793G>A						2	SNP	c.(1792-1794)CGA>CAA	20	20				0	Broad	ArfGAP with SH3 domain, ankyrin repeat and PH			9517083		0.448	ENSG00000151693	990	g.chr2:9517083G>A	regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding							322.240744	KEEP	62	56	-1	30	29	62	56	-1	326.742035	30	29	0.690647	1	0	0	0	0	1	0	0	0	--	--		0	A			ASAP2_uc002qzi.2_Missense_Mutation_p.R598Q	102	GBM-06-5858-TP	p.R598Q	G	TCCGTGGATCGAACCTCTCTT	NM_003887	NP_003878	9517083	O43150	ASAP2_HUMAN	0			18	2133	+	A	A			Missense_Mutation	598			ANK 1.			
ASAP2	0	broad.mit.edu	GRCh37	2	9347326	9347326	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-3476-01	TCGA-14-3476-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281419.3:c.93G>A	p.Ala31=	p.A31=	ENST00000281419	NM_003887.2	31	gcG/gcA	0			1			A	A	uc002qzh.2	protein_coding	YES	CCDS1661.1			93/3021										0	c.(91-93)GCG>GCA				ArfGAP with SH3 domain, ankyrin repeat and PH				ENSP00000281419		28-Jan	8.32E-06					1.99E-05			rs778938210,COSM3408031	28-Jan	.		ENST00000281419	Transcript			regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	ENSG00000151693	g.chr2:9347326G>A	2721			LOW								--	--	1																																		ASAP2_uc002qzi.2_Silent_p.A31A	0,1	1			p.A31A	NM_003887	NP_003878			0,1	ASAP2_HUMAN	ASAP2	HGNC	O43150	ASAP2_HUMAN			Q53RT9_HUMAN,Q53RS3_HUMAN,Q53R39_HUMAN		1	433	+			UPI0000073459	31					SNV	ASAP2,synonymous_variant,p.=,ENST00000281419,NM_003887.2;ASAP2,synonymous_variant,p.=,ENST00000315273,NM_001135191.1;	uc002qzh.2	c.93G>A	433/5712	2	2			c.93G>A						2	SNP	c.(91-93)GCG>GCA	29	29				0	Broad	ArfGAP with SH3 domain, ankyrin repeat and PH			9347326		0.731	ENSG00000151693	990	g.chr2:9347326G>A	regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding							3.506713	KEEP	1	2	-1	10	16	1	2	-1	6.805777	10	16	0.125	1	0	0	0	0	0	0	1	0	--	--		0	A			ASAP2_uc002qzi.2_Silent_p.A31A	151	GBM-14-3476-TP	p.A31A	G	CCCGCACGGCGCAGTGCCGGA	NM_003887	NP_003878	9347326	O43150	ASAP2_HUMAN	0			1	433	+	A	A			Silent	31						
ASB10	0	broad.mit.edu	GRCh37	7	150878355	150878355	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000420175.2:c.775C>T	p.Arg259Cys	p.R259C	ENST00000420175		259	Cgc/Tgc	0			1			A	R/C	uc003wjm.1	protein_coding	YES	CCDS47750.2			775/1404										0	c.(910-912)CGC>TGC			Gene3D:1.25.40.20,PROSITE_profiles:PS50297,hmmpanther:PTHR24188,hmmpanther:PTHR24188:SF33,SMART_domains:SM00248,Superfamily_domains:SSF48403	ankyrin repeat and SOCS box-containing 10				ENSP00000391137		6-Mar	1.65E-05							0.000121	rs772953406,COSM3411815,COSM3411814,COSM3411813,COSM3411816	6-Mar	.		ENST00000420175	Transcript	1		intracellular signal transduction			ENSG00000146926	g.chr7:150878355G>A	17185			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=ASB10_HUMAN&rb=185&re=291&var=R259C	getma.org/pdb.php?prot=ASB10_HUMAN&from=185&to=291&var=R259C	getma.org/?cm=var&var=hg19,7,150878355,G,A&fts=all	R259C	--	--	1																																		ASB10_uc003wjl.1_Missense_Mutation_p.R304C|ASB10_uc003wjn.1_Missense_Mutation_p.R244C	0,1,1,1,1	1		benign(0.005)	p.R304C	NM_001142459	NP_001135931		tolerated(0.08)	0,1,1,1,1	ASB10_HUMAN	ASB10	HGNC	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)			3	1036	-			UPI000020F32F	259			ANK 5.		SNV	ASB10,missense_variant,p.Arg304Cys,ENST00000422024,NM_001142459.1;ASB10,missense_variant,p.Arg259Cys,ENST00000275838,;ASB10,missense_variant,p.Arg304Cys,ENST00000434669,NM_001142460.1;ASB10,missense_variant,p.Arg244Cys,ENST00000377867,NM_080871.3;ASB10,missense_variant,p.Arg259Cys,ENST00000420175,;	uc003wjm.1	c.910C>T	800/1694	2	2			c.910C>T						7	SNP	c.(910-912)CGC>TGC	34	34				0	Broad	ankyrin repeat and SOCS box-containing 10			150878355		0.647	ENSG00000146926	993	g.chr7:150878355G>A	intracellular signal transduction									27.850579	KEEP	8	8	-1	31	31	8	8	-1	31.232429	31	31	0.22449	1	0	0	0	0	1	0	0	0	--	--		0	A			ASB10_uc003wjl.1_Missense_Mutation_p.R304C|ASB10_uc003wjn.1_Missense_Mutation_p.R244C	271	GBM-76-4932-TP	p.R304C	G	GACTGGCAGCGGACGTCACAG	NM_001142459	NP_001135931	150878355	Q8WXI3	ASB10_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1036	-	A	A			Missense_Mutation	259			ANK 5.			
ASB10	0	broad.mit.edu	GRCh37	7	150878052	150878052	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs104886484		TCGA-76-6192-01	TCGA-76-6192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000420175.2:c.1078C>T	p.Arg360Cys	p.R360C	ENST00000420175		360	Cgt/Tgt	0	A:0.0016	A:0.0015	1	A:0		A	R/C	uc003wjm.1	protein_coding	YES	CCDS47750.2			1078/1404						not_provided				0	c.(1213-1215)CGT>TGT			hmmpanther:PTHR24188,hmmpanther:PTHR24188:SF33,SMART_domains:SM00248	ankyrin repeat and SOCS box-containing 10		A:0.003	A:0	ENSP00000391137	A:0	6-Mar	0.000332	0.00585		0.00128			0.00245	0.000156	rs104886484,COSM3411811,COSM3411810,COSM3411809,COSM3411812	6-Mar	common_variant		ENST00000420175	Transcript	1	A:0.0012	intracellular signal transduction			ENSG00000146926	g.chr7:150878052G>A	17185			MODERATE		1.015	low	getma.org/?cm=msa&ty=f&p=ASB10_HUMAN&rb=266&re=360&var=R360C	getma.org/pdb.php?prot=ASB10_HUMAN&from=266&to=360&var=R360C	getma.org/?cm=var&var=hg19,7,150878052,G,A&fts=all	R360C	--	--	1																																		ASB10_uc003wjl.1_Missense_Mutation_p.R405C|ASB10_uc003wjn.1_Missense_Mutation_p.R345C	1,1,1,1,1	1	10037570	possibly_damaging(0.534)	p.R405C	NM_001142459	NP_001135931	A:0.001	deleterious(0)	0,1,1,1,1	ASB10_HUMAN	ASB10	HGNC	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)			3	1339	-			UPI000020F32F	360			ANK 7.		SNV	ASB10,missense_variant,p.Arg405Cys,ENST00000422024,NM_001142459.1;ASB10,missense_variant,p.Arg360Cys,ENST00000275838,;ASB10,missense_variant,p.Arg405Cys,ENST00000434669,NM_001142460.1;ASB10,missense_variant,p.Arg345Cys,ENST00000377867,NM_080871.3;ASB10,missense_variant,p.Arg360Cys,ENST00000420175,;	uc003wjm.1	c.1213C>T	1103/1694	2	2			c.1213C>T						7	SNP	c.(1213-1215)CGT>TGT	39	39				0	Broad	ankyrin repeat and SOCS box-containing 10			150878052		0.701	ENSG00000146926	993	g.chr7:150878052G>A	intracellular signal transduction									15.641957	KEEP	4	2	-1	9	10	4	2	-1	17.003071	9	10	0.25	1	0	0	0	0	1	0	0	0	--	--		0	A			ASB10_uc003wjl.1_Missense_Mutation_p.R405C|ASB10_uc003wjn.1_Missense_Mutation_p.R345C	275	GBM-76-6192-TP	p.R405C	G	GGCCAGACACGGACGGCGCCA	NM_001142459	NP_001135931	150878052	Q8WXI3	ASB10_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1339	-	A	A			Missense_Mutation	360			ANK 7.			
ASB12	142689	broad.mit.edu	GRCh37	X	63445208	63445208	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01	TCGA-06-0241-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000362002.2:c.323C>T	p.Thr108Met	p.T108M	ENST00000362002	NM_130388.3	108	aCg/aTg	0		A:0	1	A:0		A	T/M	uc011mou.1	protein_coding	YES	CCDS14378.2			323/957									ovary(2)|breast(2)	4	c.(1447-1449)ACG>ATG			Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24120,SMART_domains:SM00248,Superfamily_domains:SSF48403	myotubularin related protein 8		A:0.002		ENSP00000355195	A:0	3-Feb	4.94E-05							0.000507	rs763029351,COSM2151176,COSM2151175,COSM2151177	3-Feb	common_variant		ENST00000362002	Transcript		A:0.0008		nuclear envelope	protein tyrosine phosphatase activity	ENSG00000198881	g.chrX:63445208G>A	19763			MODERATE		3.735	high	getma.org/?cm=msa&ty=f&p=ASB12_HUMAN&rb=68&re=160&var=T99M	getma.org/pdb.php?prot=ASB12_HUMAN&from=68&to=160&var=T99M	getma.org/?cm=var&var=hg19,X,63445208,G,A&fts=all	T99M	--	--	1																																		ASB12_uc004dvp.1_Missense_Mutation_p.T99M|ASB12_uc004dvq.1_Missense_Mutation_p.T108M|ASB12_uc004dvr.1_Missense_Mutation_p.T108M	0,1,1,1	1		probably_damaging(0.989)	p.T483M	NM_017677	NP_060147	A:0.001	deleterious(0)	0,1,1,1	ASB12_HUMAN	ASB12	HGNC	Q96EF0	MTMR8_HUMAN					10	1516	-			UPI000013DA93	Error:Variant_position_missing_in_Q96EF0_after_alignment					SNV	MTMR8,missense_variant,p.Thr483Met,ENST00000453546,;ASB12,missense_variant,p.Thr108Met,ENST00000362002,NM_130388.3;ASB12,missense_variant,p.Thr99Met,ENST00000396130,;	uc011mou.1	c.1448C>T	516/1289	1	1			c.1448C>T						23	SNP	c.(1447-1449)ACG>ATG	52	52			ovary(2)|breast(2)	4	Broad	myotubularin related protein 8			63445208		0.517	ENSG00000198881	9767	g.chrX:63445208G>A		nuclear envelope	protein tyrosine phosphatase activity							58.162394	KEEP	8	17	-1	14	15	8	17	-1	58.381265	14	15	0.428571	1	0	0	0	0	1	0	0	0	--	--		0	A			ASB12_uc004dvp.1_Missense_Mutation_p.T99M|ASB12_uc004dvq.1_Missense_Mutation_p.T108M|ASB12_uc004dvr.1_Missense_Mutation_p.T108M	57	GBM-06-0241-TP	p.T483M	G	GAAAAGTGGCGTCTGTGCCTT	NM_017677	NP_060147	63445208	Q96EF0	MTMR8_HUMAN	0			10	1516	-	A	A			Missense_Mutation	Error:Variant_position_missing_in_Q96EF0_after_alignment						
ASB15	142685	broad.mit.edu	GRCh37	7	123276864	123276864	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A			TCGA-06-0158-01	TCGA-06-0158-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000451558.1:c.1596G>A		p.X532_splice	ENST00000451558		532	gaG/gaA	0			1			A	E	uc003vku.1	protein_coding		CCDS34742.1			1596/1767									skin(2)|lung(1)	3	c.(1594-1596)GAG>GAA			Superfamily_domains:SSF158235,SMART_domains:SM00253	ankyrin repeat and SOCS box-containing 15				ENSP00000275699		10-Oct									COSM2150105	10-Oct	.		ENST00000275699	Transcript			intracellular signal transduction			ENSG00000146809	g.chr7:123276864G>A	19767			LOW								--	--	1																																		ASB15_uc003vkw.1_Silent_p.E532E	1				p.E532E	NM_080928	NP_563616			1	ASB15_HUMAN	ASB15	HGNC	Q8WXK1	ASB15_HUMAN			C9J956_HUMAN		12	1888	+			UPI000022D0FF	532			SOCS box.		SNV	ASB15,splice_region_variant,p.=,ENST00000451558,;ASB15,splice_region_variant,p.=,ENST00000451215,;ASB15,splice_region_variant,p.=,ENST00000434204,;ASB15,splice_region_variant,p.=,ENST00000540573,;ASB15,splice_region_variant,p.=,ENST00000275699,NM_080928.3;	uc003vku.1	c.1596G>A	1638/2706	1	1			c.1596G>A						7	SNP	c.(1594-1596)GAG>GAA	52	52			skin(2)|lung(1)	3	Broad	ankyrin repeat and SOCS box-containing 15			123276864		0.383	ENSG00000146809	998	g.chr7:123276864G>A	intracellular signal transduction									214.43128	KEEP	41	31	-1	59	54	41	31	-1	216.169135	59	54	0.391813	1	0	0	0	0	0	0	1	0	--	--		0	A			ASB15_uc003vkw.1_Silent_p.E532E	29	GBM-06-0158-TP	p.E532E	G	TTCTTTTAGAGAATCCTTGTT	NM_080928	NP_563616	123276864	Q8WXK1	ASB15_HUMAN	0			12	1888	+	A	A			Silent	532			SOCS box.			
ASB15	0	broad.mit.edu	GRCh37	7	123269046	123269046	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-0789-01	TCGA-14-0789-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275699.3:c.998A>G	p.Asp333Gly	p.D333G	ENST00000275699	NM_080928.3	333	gAt/gGt	0			1			G	D/G	uc003vku.1	protein_coding		CCDS34742.1			998/1767									skin(2)|lung(1)	3	c.(997-999)GAT>GGT			Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR24188,hmmpanther:PTHR24188:SF0,PROSITE_profiles:PS50297,PROSITE_profiles:PS50088	ankyrin repeat and SOCS box-containing 15				ENSP00000275699		10-Aug									COSM3411536	10-Aug	.		ENST00000275699	Transcript			intracellular signal transduction			ENSG00000146809	g.chr7:123269046A>G	19767			MODERATE		2.43	medium	getma.org/?cm=msa&ty=f&p=ASB15_HUMAN&rb=312&re=409&var=D333G	getma.org/pdb.php?prot=ASB15_HUMAN&from=312&to=409&var=D333G	getma.org/?cm=var&var=hg19,7,123269046,A,G&fts=all	D333G	--	--	1																																		ASB15_uc003vkw.1_Missense_Mutation_p.D333G	1			probably_damaging(0.997)	p.D333G	NM_080928	NP_563616		deleterious(0)	1	ASB15_HUMAN	ASB15	HGNC	Q8WXK1	ASB15_HUMAN			C9J956_HUMAN		10	1290	+			UPI000022D0FF	333			ANK 6.		SNV	ASB15,missense_variant,p.Asp333Gly,ENST00000451558,;ASB15,missense_variant,p.Asp333Gly,ENST00000451215,;ASB15,missense_variant,p.Asp333Gly,ENST00000434204,;ASB15,missense_variant,p.Asp333Gly,ENST00000540573,;ASB15,missense_variant,p.Asp333Gly,ENST00000275699,NM_080928.3;ASB15,downstream_gene_variant,,ENST00000447789,;RP11-390E23.3,upstream_gene_variant,,ENST00000429396,;RP11-390E23.3,upstream_gene_variant,,ENST00000418409,;RP11-390E23.3,upstream_gene_variant,,ENST00000440504,;RP11-390E23.3,upstream_gene_variant,,ENST00000451016,;RP11-390E23.3,upstream_gene_variant,,ENST00000422401,;	uc003vku.1	c.998A>G	1040/2706	3	3			c.998A>G						7	SNP	c.(997-999)GAT>GGT	62	62			skin(2)|lung(1)	3	Broad	ankyrin repeat and SOCS box-containing 15			123269046		0.418	ENSG00000146809	998	g.chr7:123269046A>G	intracellular signal transduction									166.520647	KEEP	28	37	-1	122	131	28	37	-1	189.618587	122	131	0.208191	1	0	0	0	0	1	0	0	0	--	--		0	G			ASB15_uc003vkw.1_Missense_Mutation_p.D333G	136	GBM-14-0789-TP	p.D333G	A	AATGGTTTTGATGTCAACACT	NM_080928	NP_563616	123269046	Q8WXK1	ASB15_HUMAN	0			10	1290	+	G	G			Missense_Mutation	333			ANK 6.			
ASB2	0	broad.mit.edu	GRCh37	14	94404157	94404157	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01	TCGA-28-5208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315988.4:c.1514C>T	p.Ala505Val	p.A505V	ENST00000315988	NM_016150.4	505	gCg/gTg	0			1			A	A/V	uc001ycc.1	protein_coding		CCDS9915.1			1514/1764									ovary(1)|pancreas(1)	2	c.(1513-1515)GCG>GTG			hmmpanther:PTHR24196,hmmpanther:PTHR24196:SF0	ankyrin repeat and SOCS box-containing protein				ENSP00000320675		8-Jul	3.29E-05			0.000481					rs765782110,COSM3401539	8-Jul	common_variant		ENST00000315988	Transcript			intracellular signal transduction			ENSG00000100628	g.chr14:94404157G>A	16012			MODERATE		0.85	low	getma.org/?cm=msa&ty=f&p=ASB2_HUMAN&rb=456&re=544&var=A505V	NA	getma.org/?cm=var&var=hg19,14,94404157,G,A&fts=all	A505V	--	--	1																																		ASB2_uc001ycb.1_Missense_Mutation_p.A199V|ASB2_uc001ycd.2_Missense_Mutation_p.A553V|ASB2_uc001yce.1_Missense_Mutation_p.A451V	0,1			possibly_damaging(0.754)	p.A505V	NM_016150	NP_057234		deleterious(0.02)	0,1	ASB2_HUMAN	ASB2	HGNC	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	G3V484_HUMAN		7	2003	-		all_cancers(154;0.13)	UPI000000160E	505					SNV	ASB2,missense_variant,p.Ala553Val,ENST00000555019,NM_001202429.1;ASB2,missense_variant,p.Ala505Val,ENST00000315988,NM_016150.4;ASB2,missense_variant,p.Ala451Val,ENST00000555507,;RP11-131H24.4,upstream_gene_variant,,ENST00000557646,;ASB2,downstream_gene_variant,,ENST00000556337,;ASB2,non_coding_transcript_exon_variant,,ENST00000553883,;	uc001ycc.1	c.1514C>T	2003/2743	1	1			c.1514C>T						14	SNP	c.(1513-1515)GCG>GTG	56	56			ovary(1)|pancreas(1)	2	Broad	ankyrin repeat and SOCS box-containing protein			94404157		0.597	ENSG00000100628	1002	g.chr14:94404157G>A	intracellular signal transduction									61.544605	KEEP	9	16	-1	13	20	9	16	-1	61.795539	13	20	0.425926	1	0	0	0	0	1	0	0	0	--	--		0	A			ASB2_uc001ycb.1_Missense_Mutation_p.A199V|ASB2_uc001ycd.2_Missense_Mutation_p.A553V|ASB2_uc001yce.1_Missense_Mutation_p.A451V	217	GBM-28-5208-TP	p.A505V	G	GATGGGCCCCGCCCAGCGGCT	NM_016150	NP_057234	94404157	Q96Q27	ASB2_HUMAN	0		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	7	2003	-	A	A		all_cancers(154;0.13)	Missense_Mutation	505						
ASB2	51676		GRCh37	14	94419793	94419793	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000555019.1:c.539C>T	p.Thr180Met	p.T180M	ENST00000555019	NM_001202429.1	180	aCg/aTg	0																																																																																																																																																																																																																																												
ASB4	0	broad.mit.edu	GRCh37	7	95115358	95115358	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-28-5215-01	TCGA-28-5215-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325885.5:c.75A>G	p.Leu25=	p.L25=	ENST00000325885	NM_016116.2	25	ctA/ctG	0			1			G	L	uc011kij.1	protein_coding	YES	CCDS5641.1			75/1281									central_nervous_system(1)	1	c.(73-75)CTA>CTG			Gene3D:1.25.40.20,hmmpanther:PTHR24188,hmmpanther:PTHR24188:SF26,Superfamily_domains:SSF48403	ankyrin repeat and SOCS box-containing protein 4				ENSP00000321388		5-Jan									COSM3412514,COSM3412515	5-Jan	.		ENST00000325885	Transcript			intracellular signal transduction			ENSG00000005981	g.chr7:95115358A>G	16009			LOW								--	--	1																																		ASB4_uc003unx.2_Silent_p.L25L	1,1	1			p.L25L	NM_016116	NP_057200			1,1	ASB4_HUMAN	ASB4	HGNC	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)				1	75	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		UPI00001260E8	25					SNV	ASB4,synonymous_variant,p.=,ENST00000325885,NM_016116.2;ASB4,synonymous_variant,p.=,ENST00000428113,NM_145872.2;ASB4,intron_variant,,ENST00000257621,;	uc011kij.1	c.75A>G	146/3825	3	3			c.75A>G						7	SNP	c.(73-75)CTA>CTG	52	52			central_nervous_system(1)	1	Broad	ankyrin repeat and SOCS box-containing protein 4			95115358		0.438	ENSG00000005981	1004	g.chr7:95115358A>G	intracellular signal transduction									215.318613	KEEP	35	29	-1	52	41	35	29	-1	216.721662	52	41	0.395973	1	0	0	0	0	0	0	1	0	--	--		0	G			ASB4_uc003unx.2_Silent_p.L25L	222	GBM-28-5215-TP	p.L25L	A	TTGAGGCGCTAAAGTCCAATG	NM_016116	NP_057200	95115358	Q9Y574	ASB4_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.0151)		1	75	+	G	G	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		Silent	25						
ASB5	140458	broad.mit.edu	GRCh37	4	177136841	177136841	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0237-01	TCGA-06-0237-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296525.3:c.900T>C	p.Cys300=	p.C300=	ENST00000296525	NM_080874.3	300	tgT/tgC	0			1			G	C	uc003iuq.1	protein_coding	YES	CCDS3827.1			900/990									skin(2)	2	c.(898-900)TGT>TGC			PROSITE_profiles:PS50225,hmmpanther:PTHR24136,hmmpanther:PTHR24136:SF13,Pfam_domain:PF07525,SMART_domains:SM00969,Superfamily_domains:SSF158235	ankyrin repeat and SOCS box-containing protein				ENSP00000296525		7-Jul									COSM2151033	7-Jul	.		ENST00000296525	Transcript			intracellular signal transduction			ENSG00000164122	g.chr4:177136841A>G	17180			LOW								--	--	1																																		ASB5_uc003iup.1_Silent_p.C247C	1	1			p.C300C	NM_080874	NP_543150			1	ASB5_HUMAN	ASB5	HGNC	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	Q5HYF3_HUMAN,D6R9Q2_HUMAN		7	916	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	UPI00000015CF	300			SOCS box.		SNV	ASB5,synonymous_variant,p.=,ENST00000296525,NM_080874.3;ASB5,synonymous_variant,p.=,ENST00000512254,;	uc003iuq.1	c.900T>C	1014/3031	4	4			c.900T>C						4	SNP	c.(898-900)TGT>TGC	28	28			skin(2)	2	Broad	ankyrin repeat and SOCS box-containing protein			177136841		0.363	ENSG00000164122	1005	g.chr4:177136841A>G	intracellular signal transduction									110.811973	KEEP	11	25	-1	29	26	11	25	-1	111.611502	29	26	0.392405	1	0	0	0	0	0	0	1	0	--	--		0	G			ASB5_uc003iup.1_Silent_p.C247C	54	GBM-06-0237-TP	p.C300C	A	AGCTTCGGATACAGAGTCGGC	NM_080874	NP_543150	177136841	Q8WWX0	ASB5_HUMAN	0		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	7	916	-	G	G		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	Silent	300			SOCS box.			
ASB5	140458	broad.mit.edu	GRCh37	4	177143569	177143569	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G			TCGA-06-5858-01	TCGA-06-5858-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296525.3:c.279T>C		p.X93_splice	ENST00000296525	NM_080874.3	93	ggT/ggC	0			1			G	G	uc003iuq.1	protein_coding	YES	CCDS3827.1			279/990									skin(2)	2	c.(277-279)GGT>GGC			PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24136,hmmpanther:PTHR24136:SF13,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	ankyrin repeat and SOCS box-containing protein				ENSP00000296525		7-Mar									COSM3409175	7-Mar	.		ENST00000296525	Transcript			intracellular signal transduction			ENSG00000164122	g.chr4:177143569A>G	17180			LOW								--	--	1																																		ASB5_uc003iup.1_Silent_p.G40G	1	1			p.G93G	NM_080874	NP_543150			1	ASB5_HUMAN	ASB5	HGNC	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	Q5HYF3_HUMAN,D6R9Q2_HUMAN		3	295	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	UPI00000015CF	93			ANK 1.		SNV	ASB5,splice_region_variant,p.=,ENST00000296525,NM_080874.3;ASB5,splice_region_variant,p.=,ENST00000512254,;ASB5,splice_region_variant,,ENST00000511879,;ASB5,downstream_gene_variant,,ENST00000510578,;	uc003iuq.1	c.279T>C	393/3031	3	3			c.279T>C						4	SNP	c.(277-279)GGT>GGC	53	53			skin(2)	2	Broad	ankyrin repeat and SOCS box-containing protein			177143569		0.398	ENSG00000164122	1005	g.chr4:177143569A>G	intracellular signal transduction									17.333029	KEEP	4	7	-1	39	35	4	7	-1	26.97384	39	35	0.126761	1	0	0	0	0	0	0	1	0	--	--		0	G			ASB5_uc003iup.1_Silent_p.G40G	102	GBM-06-5858-TP	p.G93G	A	TTACATTATAACCCTAAATGT	NM_080874	NP_543150	177143569	Q8WWX0	ASB5_HUMAN	0		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	3	295	-	G	G		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	Silent	93			ANK 1.			
ASB8	140461	broad.mit.edu	GRCh37	12	48543629	48543629	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0192-01	TCGA-06-0192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317697.3:c.387C>A	p.Asn129Lys	p.N129K	ENST00000317697	NM_024095.3	129	aaC/aaA	0			1			T	N/K	uc001rrh.2	protein_coding	YES	CCDS8761.1			387/867									kidney(1)	1	c.(385-387)AAC>AAA			Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24134,hmmpanther:PTHR24134:SF1,SMART_domains:SM00248,Superfamily_domains:SSF48403	ankyrin repeat and SOCS box-containing 8				ENSP00000320893		4-Apr									COSM2150655	4-Apr	.		ENST00000317697	Transcript			intracellular signal transduction	cytoplasm|nucleus		ENSG00000177981	g.chr12:48543629G>T	17183			MODERATE		1.255	low	getma.org/?cm=msa&ty=f&p=ASB8_HUMAN&rb=117&re=149&var=N129K	getma.org/pdb.php?prot=ASB8_HUMAN&from=117&to=149&var=N129K	getma.org/?cm=var&var=hg19,12,48543629,G,T&fts=all	N129K	--	--	1																																		ASB8_uc010slr.1_Missense_Mutation_p.N125K	1	1		probably_damaging(0.982)	p.N129K	NM_024095	NP_077000		tolerated(0.06)	1	ASB8_HUMAN	ASB8	HGNC	Q9H765	ASB8_HUMAN			F8VS92_HUMAN,F5H7B4_HUMAN,F5H6A7_HUMAN,F5GZZ3_HUMAN		4	556	-			UPI00001260EB	129			ANK 3.		SNV	ASB8,missense_variant,p.Asn129Lys,ENST00000317697,NM_024095.3;ASB8,missense_variant,p.Asn129Lys,ENST00000536549,;ASB8,3_prime_UTR_variant,,ENST00000536953,;ASB8,3_prime_UTR_variant,,ENST00000539528,;ASB8,3_prime_UTR_variant,,ENST00000535055,;ASB8,3_prime_UTR_variant,,ENST00000536071,;PFKM,downstream_gene_variant,,ENST00000340802,NM_001166686.1;PFKM,downstream_gene_variant,,ENST00000312352,NM_001166687.1;PFKM,downstream_gene_variant,,ENST00000359794,NM_000289.5;PFKM,downstream_gene_variant,,ENST00000547587,NM_001166688.1;PFKM,downstream_gene_variant,,ENST00000551804,;PFKM,downstream_gene_variant,,ENST00000395233,;ASB8,downstream_gene_variant,,ENST00000539503,;ASB8,downstream_gene_variant,,ENST00000535988,;ASB8,downstream_gene_variant,,ENST00000540782,;ASB8,downstream_gene_variant,,ENST00000548228,;ASB8,downstream_gene_variant,,ENST00000545791,;ASB8,downstream_gene_variant,,ENST00000540212,;PFKM,downstream_gene_variant,,ENST00000553055,;ASB8,non_coding_transcript_exon_variant,,ENST00000537754,;ASB8,3_prime_UTR_variant,,ENST00000539865,;ASB8,non_coding_transcript_exon_variant,,ENST00000536938,;PFKM,downstream_gene_variant,,ENST00000547581,;PFKM,downstream_gene_variant,,ENST00000546964,;ASB8,downstream_gene_variant,,ENST00000539464,;ASB8,downstream_gene_variant,,ENST00000540143,;	uc001rrh.2	c.387C>A	557/2615	1	1			c.387C>A						12	SNP	c.(385-387)AAC>AAA	7	7			kidney(1)	1	Broad	ankyrin repeat and SOCS box-containing 8			48543629		0.527	ENSG00000177981	1008	g.chr12:48543629G>T	intracellular signal transduction	cytoplasm|nucleus								138.400907	KEEP	28	24	0.538461538	55	49	28	24	0.538461538	141.845382	55	49	0.335664	1	0	0	0	0	1	0	0	0	--	--		0	T			ASB8_uc010slr.1_Missense_Mutation_p.N125K	44	GBM-06-0192-TP	p.N129K	G	ACTCAGCATTGTTCTTAAAGG	NM_024095	NP_077000	48543629	Q9H765	ASB8_HUMAN	0			4	556	-	T	T			Missense_Mutation	129			ANK 3.			
ASCC3	10973	broad.mit.edu	GRCh37	6	101248186	101248186	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0879-01	TCGA-06-0879-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369162.2:c.1117C>T	p.Arg373Trp	p.R373W	ENST00000369162	NM_006828.2	373	Cgg/Tgg	0	A:0.0002		1			A	R/W	uc003pqk.2	protein_coding	YES	CCDS5046.1			1117/6609									ovary(5)|skin(1)	6	c.(1117-1119)CGG>TGG			hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF8	activating signal cointegrator 1 complex subunit			A:0	ENSP00000358159		Jun-42	0.000124	9.63E-05			0.000152	0.000195			rs371905084,COSM483201	Jun-42	.		ENST00000369162	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	ENSG00000112249	g.chr6:101248186G>A	18697			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=ASCC3_HUMAN&rb=201&re=400&var=R373W	NA	getma.org/?cm=var&var=hg19,6,101248186,G,A&fts=all	R373W	--	--	1																																		ASCC3_uc011eai.1_Missense_Mutation_p.R275W|ASCC3_uc003pql.2_Missense_Mutation_p.R373W	0,1	1		probably_damaging(0.945)	p.R373W	NM_006828	NP_006819		deleterious(0)	0,1	ASCC3_HUMAN	ASCC3	HGNC	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	E5RFZ0_HUMAN		6	1446	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	UPI000014145A	373					SNV	ASCC3,missense_variant,p.Arg373Trp,ENST00000369162,NM_006828.2;ASCC3,missense_variant,p.Arg373Trp,ENST00000522650,NM_001284271.1;ASCC3,3_prime_UTR_variant,,ENST00000324696,;	uc003pqk.2	c.1117C>T	1462/8146	1	1			c.1117C>T						6	SNP	c.(1117-1119)CGG>TGG	60	60			ovary(5)|skin(1)	6	Broad	activating signal cointegrator 1 complex subunit			101248186		0.348	ENSG00000112249	1012	g.chr6:101248186G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding							-29.630541	KEEP	4	1	-1	91	83	4	1	-1	8.582498	91	83	0.031447	1	0	0	0	0	1	0	0	0	--	--		0	A			ASCC3_uc011eai.1_Missense_Mutation_p.R275W|ASCC3_uc003pql.2_Missense_Mutation_p.R373W	75	GBM-06-0879-TP	p.R373W	G	CTTTGTATCCGCAATTCCTTA	NM_006828	NP_006819	101248186	Q8N3C0	HELC1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	6	1446	-	A	A		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	Missense_Mutation	373						
ASCC3	10973	broad.mit.edu	GRCh37	6	101054729	101054729	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-2567-01	TCGA-06-2567-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369162.2:c.4931T>C	p.Ile1644Thr	p.I1644T	ENST00000369162	NM_006828.2	1644	aTt/aCt	0			1			G	I/T	uc003pqk.2	protein_coding	YES	CCDS5046.1			4931/6609									ovary(5)|skin(1)	6	c.(4930-4932)ATT>ACT			Gene3D:3.40.50.300,Pfam_domain:PF00271,PROSITE_profiles:PS51194,hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF8,SMART_domains:SM00490,Superfamily_domains:SSF52540	activating signal cointegrator 1 complex subunit				ENSP00000358159		32/42									COSM2153055	32/42	.		ENST00000369162	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	ENSG00000112249	g.chr6:101054729A>G	18697			MODERATE		1.915	medium	getma.org/?cm=msa&ty=f&p=ASCC3_HUMAN&rb=1544&re=1739&var=I1644T	getma.org/pdb.php?prot=ASCC3_HUMAN&from=1544&to=1739&var=I1644T	getma.org/?cm=var&var=hg19,6,101054729,A,G&fts=all	I1644T	--	--	1																																			1	1		probably_damaging(0.955)	p.I1644T	NM_006828	NP_006819		deleterious(0)	1	ASCC3_HUMAN	ASCC3	HGNC	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	E5RFZ0_HUMAN		32	5260	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	UPI000014145A	1644			Helicase C-terminal 2.		SNV	ASCC3,missense_variant,p.Ile1644Thr,ENST00000369162,NM_006828.2;	uc003pqk.2	c.4931T>C	5276/8146	3	3			c.4931T>C						6	SNP	c.(4930-4932)ATT>ACT	13	13			ovary(5)|skin(1)	6	Broad	activating signal cointegrator 1 complex subunit			101054729		0.294	ENSG00000112249	1012	g.chr6:101054729A>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding							130.527069	KEEP	18	22	-1	36	35	18	22	-1	132.182724	36	35	0.365385	1	0	0	0	0	1	0	0	0	--	--		0	G				89	GBM-06-2567-TP	p.I1644T	A	GCTTGTAGCAATAAGAACCTA	NM_006828	NP_006819	101054729	Q8N3C0	HELC1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	32	5260	-	G	G		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	Missense_Mutation	1644			Helicase C-terminal 2.			
ASCC3	10973		GRCh37	6	101073206	101073206	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000369162.2:c.4647T>C	p.Ile1549=	p.I1549=	ENST00000369162	NM_006828.2	1549	atT/atC	0																																																																																																																																																																																																																																												
ASGR2	433	broad.mit.edu	GRCh37	17	7005462	7005462	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0185-01	TCGA-06-0185-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380952.2:c.717C>A	p.Asp239Glu	p.D239E	ENST00000380952	NM_080912.3	239	gaC/gaA	0			1			T	D/E	uc002gep.3	protein_coding		CCDS32544.1			717/936									ovary(1)	1	c.(715-717)GAC>GAA			PROSITE_profiles:PS50041,hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF201,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436	asialoglycoprotein receptor 2 isoform a	Antihemophilic Factor(DB00025)			ENSP00000347140		9-Aug									COSM3403168	9-Aug	.		ENST00000355035	Transcript			cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding	ENSG00000161944	g.chr17:7005462G>T	743			MODERATE		2.89	medium	getma.org/?cm=msa&ty=f&p=ASGR2_HUMAN&rb=194&re=302&var=D239E	getma.org/pdb.php?prot=ASGR2_HUMAN&from=194&to=302&var=D239E	getma.org/?cm=var&var=hg19,17,7005462,G,T&fts=all	D239E	--	--	1																																		ASGR2_uc010vtk.1_Missense_Mutation_p.D76E|ASGR2_uc002gem.1_Missense_Mutation_p.D178E|ASGR2_uc002gen.1_Missense_Mutation_p.D220E|ASGR2_uc002geo.1_Missense_Mutation_p.D234E|ASGR2_uc002ger.3_Missense_Mutation_p.D239E|ASGR2_uc002geq.3_Missense_Mutation_p.D215E	1			benign(0.017)	p.D239E	NM_001181	NP_001172		tolerated(0.06)	1	ASGR2_HUMAN	ASGR2	HGNC	P07307	ASGR2_HUMAN			Q7Z4G9_HUMAN		8	982	-			UPI00002007B9	239			C-type lectin.|Extracellular (Potential).		SNV	ASGR2,missense_variant,p.Asp239Glu,ENST00000380952,NM_080912.3,NM_001201352.1,NM_001181.4;ASGR2,missense_variant,p.Asp215Glu,ENST00000254850,NM_080913.3,NM_080914.2;ASGR2,missense_variant,p.Asp239Glu,ENST00000355035,;ASGR2,missense_variant,p.Asp220Glu,ENST00000446679,;	uc002gep.3	c.717C>A	914/1386	2	2			c.717C>A						17	SNP	c.(715-717)GAC>GAA	17	17			ovary(1)	1	Broad	asialoglycoprotein receptor 2 isoform a		Antihemophilic Factor(DB00025)	7005462		0.458	ENSG00000161944	1019	g.chr17:7005462G>T	cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding							15.103811	KEEP	24	26	0.48	318	260	24	26	0.48	103.020822	318	260	0.085317	1	0	0	0	0	1	0	0	0	--	--		0	T			ASGR2_uc010vtk.1_Missense_Mutation_p.D76E|ASGR2_uc002gem.1_Missense_Mutation_p.D178E|ASGR2_uc002gen.1_Missense_Mutation_p.D220E|ASGR2_uc002geo.1_Missense_Mutation_p.D234E|ASGR2_uc002ger.3_Missense_Mutation_p.D239E|ASGR2_uc002geq.3_Missense_Mutation_p.D215E	40	GBM-06-0185-TP	p.D239E	G	AGCCATCACTGTCCGTGAGAC	NM_001181	NP_001172	7005462	P07307	ASGR2_HUMAN	0			8	982	-	T	T			Missense_Mutation	239			C-type lectin.|Extracellular (Potential).			
ASH1L	0	broad.mit.edu	GRCh37	1	155449241	155449241	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-32-2638-01	TCGA-32-2638-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368346.3:c.3420C>G	p.Ser1140=	p.S1140=	ENST00000368346		1140	tcC/tcG	0			1			C	S	uc009wqq.2	protein_coding					3420/8910									skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	c.(3418-3420)TCC>TCG			hmmpanther:PTHR22884:SF311,hmmpanther:PTHR22884	absent, small, or homeotic 1-like				ENSP00000357330		28-Mar									COSM3399799	28-Mar	.		ENST00000368346	Transcript			cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	ENSG00000116539	g.chr1:155449241G>C	19088			LOW								--	--	1																																		ASH1L_uc001fkt.2_Silent_p.S1140S|ASH1L_uc009wqr.1_Silent_p.S1140S	1				p.S1140S	NM_018489	NP_060959			1	ASH1L_HUMAN	ASH1L	HGNC	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)				3	3900	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		UPI000013D5D2	1140					SNV	ASH1L,synonymous_variant,p.=,ENST00000368346,;ASH1L,synonymous_variant,p.=,ENST00000392403,NM_018489.2;ASH1L,downstream_gene_variant,,ENST00000548830,;	uc009wqq.2	c.3420C>G	4060/11942	4	4			c.3420C>G						1	SNP	c.(3418-3420)TCC>TCG	35	35			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Broad	absent, small, or homeotic 1-like			155449241		0.478	ENSG00000116539	1020	g.chr1:155449241G>C	cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding							104.426638	KEEP	15	22	-1	34	29	15	22	-1	105.607053	34	29	0.377778	1	0	0	0	0	0	0	1	0	--	--		0	C			ASH1L_uc001fkt.2_Silent_p.S1140S|ASH1L_uc009wqr.1_Silent_p.S1140S	242	GBM-32-2638-TP	p.S1140S	G	TGCCCTGTCTGGAGTGTAAAT	NM_018489	NP_060959	155449241	Q9NR48	ASH1L_HUMAN	0	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	3900	-	C	C	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Silent	1140						
ASIC2	0	broad.mit.edu	GRCh37	17	31351022	31351022	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0790-01	TCGA-14-0790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359872.6:c.1053G>A	p.Ala351=	p.A351=	ENST00000359872	NM_001094.4	351	gcG/gcA	0		T:0.0008	1	T:0		T	A	uc002hhu.2	protein_coding		CCDS42296.1			1053/1539									ovary(2)|large_intestine(1)|central_nervous_system(1)	4	c.(1051-1053)GCG>GCA			hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF128,Pfam_domain:PF00858,TIGRFAM_domain:TIGR00859	amiloride-sensitive cation channel 1, neuronal	Amiloride(DB00594)	T:0		ENSP00000352934	T:0	10-Jun	3.29E-05	9.61E-05				4.50E-05			rs544368158,COSM127244,COSM127245	10-Jun	.		ENST00000359872	Transcript		T:0.0002	central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	ENSG00000108684	g.chr17:31351022C>T	99			LOW								--	--	1																																		ACCN1_uc002hht.2_Silent_p.A402A	0,1,1				p.A351A	NM_001094	NP_001085	T:0		0,1,1	ASIC2_HUMAN	ASIC2	HGNC	Q16515	ACCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)			6	1327	-		Breast(31;0.042)|Ovarian(249;0.202)	UPI00000441F0	351			Extracellular (By similarity).		SNV	ASIC2,synonymous_variant,p.=,ENST00000225823,NM_183377.1;ASIC2,synonymous_variant,p.=,ENST00000359872,NM_001094.4;ASIC2,non_coding_transcript_exon_variant,,ENST00000448983,;	uc002hhu.2	c.1053G>A	1815/3179	2	2			c.1053G>A						17	SNP	c.(1051-1053)GCG>GCA	21	21			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Broad	amiloride-sensitive cation channel 1, neuronal		Amiloride(DB00594)	31351022		0.532	ENSG00000108684	128	g.chr17:31351022C>T	central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding							309.044398	KEEP	62	46	-1	80	77	62	46	-1	310.209631	80	77	0.423581	1	0	0	0	0	0	0	1	0	--	--		0	T			ACCN1_uc002hht.2_Silent_p.A402A	137	GBM-14-0790-TP	p.A351A	C	TGTCCTTTTCCGCCAACAGAC	NM_001094	NP_001085	31351022	Q16515	ACCN1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	6	1327	-	T	T		Breast(31;0.042)|Ovarian(249;0.202)	Silent	351			Extracellular (By similarity).			
ASIC2	0	broad.mit.edu	GRCh37	17	31341024	31341024	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-1390-01	TCGA-19-1390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359872.6:c.1498C>A	p.Leu500Met	p.L500M	ENST00000359872	NM_001094.4	500	Ctg/Atg	0			1			T	L/M	uc002hhu.2	protein_coding		CCDS42296.1			1498/1539									ovary(2)|large_intestine(1)|central_nervous_system(1)	4	c.(1498-1500)CTG>ATG			hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF128	amiloride-sensitive cation channel 1, neuronal	Amiloride(DB00594)			ENSP00000352934		10-Oct									COSM3402767,COSM3402768	10-Oct	.		ENST00000359872	Transcript			central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	ENSG00000108684	g.chr17:31341024G>T	99			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=ASIC2_HUMAN&rb=401&re=512&var=L500M	NA	getma.org/?cm=var&var=hg19,17,31341024,G,T&fts=all	L500M	--	--	1																																		ACCN1_uc002hht.2_Missense_Mutation_p.L551M	1,1			possibly_damaging(0.781)	p.L500M	NM_001094	NP_001085		tolerated(0.24)	1,1	ASIC2_HUMAN	ASIC2	HGNC	Q16515	ACCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)			10	1772	-		Breast(31;0.042)|Ovarian(249;0.202)	UPI00000441F0	500			Cytoplasmic (By similarity).		SNV	ASIC2,missense_variant,p.Leu551Met,ENST00000225823,NM_183377.1;ASIC2,missense_variant,p.Leu500Met,ENST00000359872,NM_001094.4;	uc002hhu.2	c.1498C>A	2260/3179	2	2			c.1498C>A						17	SNP	c.(1498-1500)CTG>ATG	34	34			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Broad	amiloride-sensitive cation channel 1, neuronal		Amiloride(DB00594)	31341024		0.557	ENSG00000108684	128	g.chr17:31341024G>T	central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding							46.357806	KEEP	6	9	0.4	3	2	6	9	0.4	47.321319	3	2	0.736842	1	0	0	0	0	1	0	0	0	--	--		0	T			ACCN1_uc002hht.2_Missense_Mutation_p.L551M	159	GBM-19-1390-TP	p.L500M	G	GTCGTCTGCAGGGGCACGTTC	NM_001094	NP_001085	31341024	Q16515	ACCN1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	10	1772	-	T	T		Breast(31;0.042)|Ovarian(249;0.202)	Missense_Mutation	500			Cytoplasmic (By similarity).			
ASIC2	0	broad.mit.edu	GRCh37	17	31352958	31352958	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01	TCGA-19-2631-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359872.6:c.1028C>T	p.Ala343Val	p.A343V	ENST00000359872	NM_001094.4	343	gCa/gTa	0			1			A	A/V	uc002hhu.2	protein_coding		CCDS42296.1			1028/1539									ovary(2)|large_intestine(1)|central_nervous_system(1)	4	c.(1027-1029)GCA>GTA			hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF128,Pfam_domain:PF00858,TIGRFAM_domain:TIGR00859	amiloride-sensitive cation channel 1, neuronal	Amiloride(DB00594)			ENSP00000352934		10-May									COSM3180669,COSM3180670	10-May	.		ENST00000359872	Transcript			central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	ENSG00000108684	g.chr17:31352958G>A	99			MODERATE		1.08	low	getma.org/?cm=msa&ty=f&p=ASIC2_HUMAN&rb=201&re=400&var=A343V	getma.org/pdb.php?prot=ASIC2_HUMAN&from=201&to=400&var=A343V	getma.org/?cm=var&var=hg19,17,31352958,G,A&fts=all	A343V	--	--	1																																		ACCN1_uc002hht.2_Missense_Mutation_p.A394V	1,1			probably_damaging(0.919)	p.A343V	NM_001094	NP_001085		deleterious(0.04)	1,1	ASIC2_HUMAN	ASIC2	HGNC	Q16515	ACCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)			5	1302	-		Breast(31;0.042)|Ovarian(249;0.202)	UPI00000441F0	343			Extracellular (By similarity).		SNV	ASIC2,missense_variant,p.Ala394Val,ENST00000225823,NM_183377.1;ASIC2,missense_variant,p.Ala343Val,ENST00000359872,NM_001094.4;ASIC2,non_coding_transcript_exon_variant,,ENST00000448983,;	uc002hhu.2	c.1028C>T	1790/3179	2	2			c.1028C>T						17	SNP	c.(1027-1029)GCA>GTA	21	21			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Broad	amiloride-sensitive cation channel 1, neuronal		Amiloride(DB00594)	31352958		0.532	ENSG00000108684	128	g.chr17:31352958G>A	central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding							-12.050388	KEEP	3	0	-1	48	45	3	0	-1	6.48359	48	45	0.0375	1	0	0	0	0	1	0	0	0	--	--		0	A			ACCN1_uc002hht.2_Missense_Mutation_p.A394V	167	GBM-19-2631-TP	p.A343V	G	GGCAGGCTCTGCACACTCCTT	NM_001094	NP_001085	31352958	Q16515	ACCN1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	5	1302	-	A	A		Breast(31;0.042)|Ovarian(249;0.202)	Missense_Mutation	343			Extracellular (By similarity).			
ASIC4	55515	broad.mit.edu	GRCh37	2	220396799	220396799	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-06-0122-01	TCGA-06-0122-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000347842.3:c.1185G>C	p.Gly395=	p.G395=	ENST00000347842	NM_182847.2	395	ggG/ggC	0			1			C	G	uc002vma.2	protein_coding	YES	CCDS2442.1			1185/1944									ovary(2)	2	c.(1183-1185)GGG>GGC			hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF13,Gene3D:2qtsA02,Pfam_domain:PF00858	amiloride-sensitive cation channel 4 isoform 2				ENSP00000326627		9-Mar									COSM2149183	9-Mar	.		ENST00000347842	Transcript				integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	ENSG00000072182	g.chr2:220396799G>C	21263			LOW								--	--	1																																		ACCN4_uc010fwi.1_Silent_p.G395G|ACCN4_uc010fwj.1_Silent_p.G395G|ACCN4_uc002vly.1_Silent_p.G395G|ACCN4_uc002vlz.2_Silent_p.G395G|ACCN4_uc002vmb.2_Silent_p.G49G	1	1			p.G395G	NM_182847	NP_878267			1	ASIC4_HUMAN	ASIC4	HGNC	Q96FT7	ACCN4_HUMAN		Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156)			3	1199	+		Renal(207;0.0183)	UPI0000456EFC	395			Extracellular (Potential).		SNV	ASIC4,synonymous_variant,p.=,ENST00000358078,;ASIC4,synonymous_variant,p.=,ENST00000347842,NM_182847.2;ASIC4,non_coding_transcript_exon_variant,,ENST00000473709,;ASIC4,non_coding_transcript_exon_variant,,ENST00000461395,;ASIC4,non_coding_transcript_exon_variant,,ENST00000474489,;	uc002vma.2	c.1185G>C	1199/2684	3	3			c.1185G>C						2	SNP	c.(1183-1185)GGG>GGC	54	54			ovary(2)	2	Broad	amiloride-sensitive cation channel 4 isoform 2			220396799		0.617	ENSG00000072182	131	g.chr2:220396799G>C		integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity							132.87644	KEEP	26	23	-1	54	46	26	23	-1	136.963458	54	46	0.316176	1	0	0	0	0	0	0	1	0	--	--		0	C			ACCN4_uc010fwi.1_Silent_p.G395G|ACCN4_uc010fwj.1_Silent_p.G395G|ACCN4_uc002vly.1_Silent_p.G395G|ACCN4_uc002vlz.2_Silent_p.G395G|ACCN4_uc002vmb.2_Silent_p.G49G	10	GBM-06-0122-TP	p.G395G	G	ACCAGCTGGGGTTCGGGGTGT	NM_182847	NP_878267	220396799	Q96FT7	ACCN4_HUMAN	0		Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156)	3	1199	+	C	C		Renal(207;0.0183)	Silent	395			Extracellular (Potential).			
ASL	0	broad.mit.edu	GRCh37	7	65554649	65554649	+	synonymous_variant	Silent	SNP	C	C	G	rs140532520	byFrequency	TCGA-12-0688-01	TCGA-12-0688-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304874.9:c.1029C>G	p.Leu343=	p.L343=	ENST00000304874	NM_000048.3	343	ctC/ctG	0			1			G	L	uc003tuo.2	protein_coding	YES	CCDS5531.1			1029/1395									breast(2)	2	c.(1027-1029)CTC>CTG			Gene3D:1.20.200.10,HAMAP:MF_00006,hmmpanther:PTHR11444,hmmpanther:PTHR11444:SF3,Superfamily_domains:SSF48557,TIGRFAM_domain:TIGR00838	argininosuccinate lyase isoform 1	L-Arginine(DB00125)			ENSP00000307188		14/17									COSM2153903	14/17	.		ENST00000304874	Transcript	1		arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	ENSG00000126522	g.chr7:65554649C>G	746			LOW								--	--	1																																		ASL_uc003tup.2_Silent_p.L343L|ASL_uc003tur.2_Silent_p.L317L|ASL_uc003tuq.2_Silent_p.L323L	1	1			p.L343L	NM_000048	NP_000039			1	ARLY_HUMAN	ASL	HGNC	P04424	ARLY_HUMAN					14	1140	+			UPI0000001634	343					SNV	ASL,synonymous_variant,p.=,ENST00000304874,NM_000048.3;ASL,synonymous_variant,p.=,ENST00000380839,NM_001024946.1;ASL,synonymous_variant,p.=,ENST00000395332,NM_001024943.1;ASL,synonymous_variant,p.=,ENST00000395331,NM_001024944.1;AC068533.7,synonymous_variant,p.=,ENST00000450043,;ASL,downstream_gene_variant,,ENST00000362000,;ASL,non_coding_transcript_exon_variant,,ENST00000464970,;ASL,intron_variant,,ENST00000488343,;ASL,non_coding_transcript_exon_variant,,ENST00000493708,;ASL,downstream_gene_variant,,ENST00000487982,;	uc003tuo.2	c.1029C>G	1131/2143	4	4			c.1029C>G						7	SNP	c.(1027-1029)CTC>CTG	32	32			breast(2)	2	Broad	argininosuccinate lyase isoform 1		L-Arginine(DB00125)	65554649		0.637	ENSG00000126522	1023	g.chr7:65554649C>G	arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity							85.937392	KEEP	19	14	-1	43	36	19	14	-1	89.587684	43	36	0.295918	1	0	0	0	0	0	0	1	0	--	--		0	G			ASL_uc003tup.2_Silent_p.L343L|ASL_uc003tur.2_Silent_p.L317L|ASL_uc003tuq.2_Silent_p.L323L	121	GBM-12-0688-TP	p.L343L	C	GTGCCGTGCTCCAGGTGGCCA	NM_000048	NP_000039	65554649	P04424	ARLY_HUMAN	0			14	1140	+	G	G			Silent	343						
ASNS	440	broad.mit.edu	GRCh37	7	97484694	97484694	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000175506.4:c.1108C>T	p.Leu370Phe	p.L370F	ENST00000175506	NM_183356.3	370	Ctt/Ttt	0			1			A	L/F	uc003uot.3	protein_coding	YES	CCDS5652.1			1108/1686									ovary(1)	1	c.(1108-1110)CTT>TTT			Gene3D:3.40.50.620,Pfam_domain:PF00733,PIRSF_domain:PIRSF001589,hmmpanther:PTHR11772,hmmpanther:PTHR11772:SF5,Superfamily_domains:SSF52402,TIGRFAM_domain:TIGR01536	asparagine synthetase	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)			ENSP00000175506		14-Oct									COSM3412526,COSM3412527	14-Oct	.		ENST00000175506	Transcript	1		cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	ENSG00000070669	g.chr7:97484694G>A	753			MODERATE		2.795	medium	getma.org/?cm=msa&ty=f&p=ASNS_HUMAN&rb=234&re=467&var=L370F	getma.org/pdb.php?prot=ASNS_HUMAN&from=234&to=467&var=L370F	getma.org/?cm=var&var=hg19,7,97484694,G,A&fts=all	L370F	--	--	1																																		ASNS_uc011kin.1_Missense_Mutation_p.L287F|ASNS_uc003uou.3_Missense_Mutation_p.L370F|ASNS_uc003uov.3_Missense_Mutation_p.L370F|ASNS_uc011kio.1_Missense_Mutation_p.L349F|ASNS_uc003uow.3_Missense_Mutation_p.L349F|ASNS_uc003uox.3_Missense_Mutation_p.L287F	1,1	1		probably_damaging(0.978)	p.L370F	NM_133436	NP_597680		deleterious(0.01)	1,1	ASNS_HUMAN	ASNS	HGNC	P08243	ASNS_HUMAN			C9JT45_HUMAN,C9JM09_HUMAN,C9JLA3_HUMAN,C9J605_HUMAN,C9J057_HUMAN		9	1614	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		UPI0000169F55	370			Asparagine synthetase.		SNV	ASNS,missense_variant,p.Leu370Phe,ENST00000175506,NM_183356.3;ASNS,missense_variant,p.Leu370Phe,ENST00000394309,NM_133436.3;ASNS,missense_variant,p.Leu370Phe,ENST00000394308,NM_001178075.1,NM_001673.4;ASNS,missense_variant,p.Leu349Phe,ENST00000422745,;ASNS,missense_variant,p.Leu349Phe,ENST00000444334,;ASNS,missense_variant,p.Leu287Phe,ENST00000437628,NM_001178077.1;ASNS,missense_variant,p.Leu287Phe,ENST00000455086,NM_001178076.1;ASNS,downstream_gene_variant,,ENST00000442734,;ASNS,missense_variant,p.Leu370Phe,ENST00000454046,;ASNS,non_coding_transcript_exon_variant,,ENST00000462436,;ASNS,upstream_gene_variant,,ENST00000487714,;	uc003uot.3	c.1108C>T	1637/2356	2	2			c.1108C>T						7	SNP	c.(1108-1110)CTT>TTT	46	46			ovary(1)	1	Broad	asparagine synthetase		Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	97484694		0.338	ENSG00000070669	1025	g.chr7:97484694G>A	cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)			Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)			83.634077	KEEP	20	26	-1	105	115	20	26	-1	105.700253	105	115	0.171296	1	0	0	0	0	1	0	0	0	--	--		0	A			ASNS_uc011kin.1_Missense_Mutation_p.L287F|ASNS_uc003uou.3_Missense_Mutation_p.L370F|ASNS_uc003uov.3_Missense_Mutation_p.L370F|ASNS_uc011kio.1_Missense_Mutation_p.L349F|ASNS_uc003uow.3_Missense_Mutation_p.L349F|ASNS_uc003uox.3_Missense_Mutation_p.L287F	26	GBM-06-0154-TP	p.L370F	G	CCCTGCGTAAGTTCATCTGAT	NM_133436	NP_597680	97484694	P08243	ASNS_HUMAN	0			9	1614	-	A	A	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		Missense_Mutation	370			Asparagine synthetase.			
ASNS	0	broad.mit.edu	GRCh37	7	97483890	97483890	+	splice_donor_variant	Splice_Site	SNP	A	A	G			TCGA-76-6282-01	TCGA-76-6282-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000175506.4:c.1238+2T>C		p.X413_splice	ENST00000175506	NM_183356.3			0			1			G		uc003uot.3	protein_coding	YES	CCDS5652.1			1238/1686									ovary(1)	1	c.e10+1				asparagine synthetase	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)			ENSP00000175506											COSM3412524,COSM3412525		.		ENST00000175506	Transcript	1		cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	ENSG00000070669	g.chr7:97483890A>G	753			HIGH	13-Nov							--	--	1																																		ASNS_uc011kin.1_Splice_Site_p.G330_splice|ASNS_uc003uou.3_Splice_Site_p.G413_splice|ASNS_uc003uov.3_Splice_Site_p.G413_splice|ASNS_uc011kio.1_Splice_Site_p.G392_splice|ASNS_uc003uow.3_Splice_Site_p.G392_splice|ASNS_uc003uox.3_Splice_Site_p.G330_splice	1,1	1			p.G413_splice	NM_133436	NP_597680			1,1	ASNS_HUMAN	ASNS	HGNC	P08243	ASNS_HUMAN			C9JT45_HUMAN,C9JM09_HUMAN,C9JLA3_HUMAN,C9J605_HUMAN,C9J057_HUMAN		10	1744	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		UPI0000169F55						SNV	ASNS,splice_donor_variant,,ENST00000175506,NM_183356.3;ASNS,splice_donor_variant,,ENST00000394309,NM_133436.3;ASNS,splice_donor_variant,,ENST00000394308,NM_001178075.1,NM_001673.4;ASNS,splice_donor_variant,,ENST00000422745,;ASNS,splice_donor_variant,,ENST00000444334,;ASNS,splice_donor_variant,,ENST00000437628,NM_001178077.1;ASNS,splice_donor_variant,,ENST00000455086,NM_001178076.1;ASNS,downstream_gene_variant,,ENST00000442734,;ASNS,splice_donor_variant,,ENST00000454046,;ASNS,splice_donor_variant,,ENST00000487714,;ASNS,downstream_gene_variant,,ENST00000462436,;	uc003uot.3	c.1238_splice	-/2356	5	3			c.1238_splice						7	SNP	c.e10+1	5	5			ovary(1)	1	Broad	asparagine synthetase		Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	97483890		0.343	ENSG00000070669	1025	g.chr7:97483890A>G	cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)			Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)			-15.54776	KEEP	1	3	-1	48	55	1	3	-1	7.249749	48	55	0.031579	1	0	0	0	0	0	0	0	1	--	--		0	G			ASNS_uc011kin.1_Splice_Site_p.G330_splice|ASNS_uc003uou.3_Splice_Site_p.G413_splice|ASNS_uc003uov.3_Splice_Site_p.G413_splice|ASNS_uc011kio.1_Splice_Site_p.G392_splice|ASNS_uc003uow.3_Splice_Site_p.G392_splice|ASNS_uc003uox.3_Splice_Site_p.G330_splice	278	GBM-76-6282-TP	p.G413_splice	A	TAAAAATATTACCCATGGGCA	NM_133436	NP_597680	97483890	P08243	ASNS_HUMAN	0			10	1744	-	G	G	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		Splice_Site							
ASNSD1	54529	broad.mit.edu	GRCh37	2	190531945	190531945	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0174-01	TCGA-06-0174-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260952.4:c.1087A>G	p.Met363Val	p.M363V	ENST00000260952	NM_019048.2	363	Atg/Gtg	0			1			G	M/V	uc002uqt.2	protein_coding	YES	CCDS2300.1			1087/1932									ovary(2)|skin(1)	3	c.(1087-1089)ATG>GTG			hmmpanther:PTHR11772:SF3,hmmpanther:PTHR11772,Pfam_domain:PF00733	asparagine synthetase domain containing 1				ENSP00000260952		6-Apr									COSM3407411	6-Apr	.		ENST00000260952	Transcript			asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	ENSG00000138381	g.chr2:190531945A>G	24910			MODERATE		-0.41	neutral	getma.org/?cm=msa&ty=f&p=ASND1_HUMAN&rb=288&re=601&var=M363V	NA	getma.org/?cm=var&var=hg19,2,190531945,A,G&fts=all	M363V	--	--	1																																			1	1		benign(0.001)	p.M363V	NM_019048	NP_061921		tolerated(0.32)	1	ASND1_HUMAN	ASNSD1	HGNC	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		C9J6C1_HUMAN,C9IYZ1_HUMAN		4	1521	+			UPI000013D120	363			Asparagine synthetase.		SNV	ASNSD1,missense_variant,p.Met363Val,ENST00000260952,NM_019048.2;ASNSD1,missense_variant,p.Met363Val,ENST00000420250,;ASNSD1,missense_variant,p.Met82Val,ENST00000606910,;ASNSD1,intron_variant,,ENST00000607062,;ASNSD1,downstream_gene_variant,,ENST00000607829,;ASNSD1,downstream_gene_variant,,ENST00000607535,;ASNSD1,downstream_gene_variant,,ENST00000425590,;ASNSD1,downstream_gene_variant,,ENST00000607690,;ASNSD1,downstream_gene_variant,,ENST00000605941,;	uc002uqt.2	c.1087A>G	1500/2450	3	3			c.1087A>G						2	SNP	c.(1087-1089)ATG>GTG	1	1			ovary(2)|skin(1)	3	Broad	asparagine synthetase domain containing 1			190531945		0.378	ENSG00000138381	1026	g.chr2:190531945A>G	asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity							281.072062	KEEP	48	38	-1	29	40	48	38	-1	281.373817	29	40	0.549296	1	0	0	0	0	1	0	0	0	--	--		0	G				37	GBM-06-0174-TP	p.M363V	A	AGAAAAGACCATGCCAACTAC	NM_019048	NP_061921	190531945	Q9NWL6	ASND1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		4	1521	+	G	G			Missense_Mutation	363			Asparagine synthetase.			
ASPM	0	broad.mit.edu	GRCh37	1	197071366	197071366	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-14-0781-01	TCGA-14-0781-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367409.4:c.7015A>C	p.Thr2339Pro	p.T2339P	ENST00000367409	NM_018136.4	2339	Act/Cct	0			1			G	T/P	uc001gtu.2	protein_coding	YES	CCDS1389.1			7015/10434									ovary(4)|central_nervous_system(2)	6	c.(7015-7017)ACT>CCT			Pfam_domain:PF00612,PROSITE_profiles:PS50096,PROSITE_profiles:PS50096,hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF115,SMART_domains:SM00015	asp (abnormal spindle)-like, microcephaly				ENSP00000356379		18/28									COSM3747821	18/28	.		ENST00000367409	Transcript	1		mitosis	cytoplasm|nucleus	calmodulin binding	ENSG00000066279	g.chr1:197071366T>G	19048			MODERATE		3.405	medium	getma.org/?cm=msa&ty=f&p=ASPM_HUMAN&rb=2315&re=2375&var=T2339P	NA	getma.org/?cm=var&var=hg19,1,197071366,T,G&fts=all	T2339P	--	--	1																																		ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.T187P	1	1		possibly_damaging(0.868)	p.T2339P	NM_018136	NP_060606		deleterious(0.02)	1	ASPM_HUMAN	ASPM	HGNC	Q8IZT6	ASPM_HUMAN					18	7272	-			UPI0000458904	2339			IQ 22.|IQ 23.		SNV	ASPM,missense_variant,p.Thr2339Pro,ENST00000367409,NM_018136.4;ASPM,intron_variant,,ENST00000294732,NM_001206846.1;ASPM,intron_variant,,ENST00000367408,;	uc001gtu.2	c.7015A>C	7272/10887	3	3			c.7015A>C						1	SNP	c.(7015-7017)ACT>CCT	5	5			ovary(4)|central_nervous_system(2)	6	Broad	asp (abnormal spindle)-like, microcephaly			197071366		0.408	ENSG00000066279	1033	g.chr1:197071366T>G	mitosis	cytoplasm|nucleus	calmodulin binding							11.288113	KEEP	5	2	-1	23	33	5	2	-1	19.465328	23	33	0.12069	1	0	0	0	0	1	0	0	0	--	--		0	G			ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.T187P	133	GBM-14-0781-TP	p.T2339P	T	TGGATGAAAGTAGCAGCCCTG	NM_018136	NP_060606	197071366	Q8IZT6	ASPM_HUMAN	0			18	7272	-	G	G			Missense_Mutation	2339			IQ 22.|IQ 23.			
ASPM	0	broad.mit.edu	GRCh37	1	197062332	197062332	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-28-5207-01	TCGA-28-5207-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367409.4:c.9144C>G	p.Val3048=	p.V3048=	ENST00000367409	NM_018136.4	3048	gtC/gtG	0			1			C	V	uc001gtu.2	protein_coding	YES	CCDS1389.1			9144/10434									ovary(4)|central_nervous_system(2)	6	c.(9142-9144)GTC>GTG			Pfam_domain:PF00612,PROSITE_profiles:PS50096,hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF115,SMART_domains:SM00015,Superfamily_domains:SSF52540	asp (abnormal spindle)-like, microcephaly				ENSP00000356379		21/28									COSM2157353	21/28	.		ENST00000367409	Transcript	1		mitosis	cytoplasm|nucleus	calmodulin binding	ENSG00000066279	g.chr1:197062332G>C	19048			LOW								--	--	1																																		ASPM_uc001gtv.2_Silent_p.V1463V|ASPM_uc001gtw.3_Silent_p.V896V	1	1			p.V3048V	NM_018136	NP_060606			1	ASPM_HUMAN	ASPM	HGNC	Q8IZT6	ASPM_HUMAN					21	9401	-			UPI0000458904	3048			IQ 36.		SNV	ASPM,synonymous_variant,p.=,ENST00000367409,NM_018136.4;ASPM,synonymous_variant,p.=,ENST00000294732,NM_001206846.1;ASPM,synonymous_variant,p.=,ENST00000367408,;	uc001gtu.2	c.9144C>G	9401/10887	4	4			c.9144C>G						1	SNP	c.(9142-9144)GTC>GTG	41	41			ovary(4)|central_nervous_system(2)	6	Broad	asp (abnormal spindle)-like, microcephaly			197062332		0.348	ENSG00000066279	1033	g.chr1:197062332G>C	mitosis	cytoplasm|nucleus	calmodulin binding							1256.581017	KEEP	173	207	-1	113	149	173	207	-1	1261.748126	113	149	0.602113	1	0	0	0	0	0	0	1	0	--	--		0	C			ASPM_uc001gtv.2_Silent_p.V1463V|ASPM_uc001gtw.3_Silent_p.V896V	216	GBM-28-5207-TP	p.V3048V	G	GCCGAAGAAAGACCTGCCTTC	NM_018136	NP_060606	197062332	Q8IZT6	ASPM_HUMAN	0			21	9401	-	C	C			Silent	3048			IQ 36.			
ASPM	0	broad.mit.edu	GRCh37	1	197061071	197061071	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-32-1970-01	TCGA-32-1970-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367409.4:c.9410C>A	p.Ala3137Asp	p.A3137D	ENST00000367409	NM_018136.4	3137	gCt/gAt	0			1			T	A/D	uc001gtu.2	protein_coding	YES	CCDS1389.1			9410/10434									ovary(4)|central_nervous_system(2)	6	c.(9409-9411)GCT>GAT			hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF115,SMART_domains:SM00015,Superfamily_domains:SSF52540	asp (abnormal spindle)-like, microcephaly				ENSP00000356379		22/28									COSM3400159	22/28	.		ENST00000367409	Transcript	1		mitosis	cytoplasm|nucleus	calmodulin binding	ENSG00000066279	g.chr1:197061071G>T	19048			MODERATE		2.32	medium	getma.org/?cm=msa&ty=f&p=ASPM_HUMAN&rb=3101&re=3181&var=A3137D	NA	getma.org/?cm=var&var=hg19,1,197061071,G,T&fts=all	A3137D	--	--	1																																		ASPM_uc001gtv.2_Missense_Mutation_p.A1552D|ASPM_uc001gtw.3_Missense_Mutation_p.A985D	1	1		probably_damaging(0.98)	p.A3137D	NM_018136	NP_060606		deleterious(0.03)	1	ASPM_HUMAN	ASPM	HGNC	Q8IZT6	ASPM_HUMAN					22	9667	-			UPI0000458904	3137					SNV	ASPM,missense_variant,p.Ala3137Asp,ENST00000367409,NM_018136.4;ASPM,missense_variant,p.Ala1552Asp,ENST00000294732,NM_001206846.1;ASPM,missense_variant,p.Ala802Asp,ENST00000367408,;	uc001gtu.2	c.9410C>A	9667/10887	2	2			c.9410C>A						1	SNP	c.(9409-9411)GCT>GAT	41	41			ovary(4)|central_nervous_system(2)	6	Broad	asp (abnormal spindle)-like, microcephaly			197061071		0.338	ENSG00000066279	1033	g.chr1:197061071G>T	mitosis	cytoplasm|nucleus	calmodulin binding							172.928366	KEEP	24	39	0.380952381	49	45	24	39	0.380952381	174.193989	49	45	0.4	1	0	0	0	0	1	0	0	0	--	--		0	T			ASPM_uc001gtv.2_Missense_Mutation_p.A1552D|ASPM_uc001gtw.3_Missense_Mutation_p.A985D	228	GBM-32-1970-TP	p.A3137D	G	CTGCTTGTTAGCATTCTTCAC	NM_018136	NP_060606	197061071	Q8IZT6	ASPM_HUMAN	0			22	9667	-	T	T			Missense_Mutation	3137						
ASPM	0	broad.mit.edu	GRCh37	1	197060162	197060162	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6192-01	TCGA-76-6192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367409.4:c.9454C>T	p.Arg3152Ter	p.R3152*	ENST00000367409	NM_018136.4	3152	Cga/Tga	0			1			A	R/*	uc001gtu.2	protein_coding	YES	CCDS1389.1			9454/10434						pathogenic			ovary(4)|central_nervous_system(2)	6	c.(9454-9456)CGA>TGA			hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF115,SMART_domains:SM00015,Superfamily_domains:SSF52540	asp (abnormal spindle)-like, microcephaly				ENSP00000356379		23/28	1.65E-05					3.04E-05			rs587783292,COSM901648	23/28	.		ENST00000367409	Transcript	1		mitosis	cytoplasm|nucleus	calmodulin binding	ENSG00000066279	g.chr1:197060162G>A	19048			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,197060162,G,A&fts=all	R3152*	--	--	1																																		ASPM_uc001gtv.2_Nonsense_Mutation_p.R1567*|ASPM_uc001gtw.3_Nonsense_Mutation_p.R1000*	1,1	1			p.R3152*	NM_018136	NP_060606			0,1	ASPM_HUMAN	ASPM	HGNC	Q8IZT6	ASPM_HUMAN					23	9711	-			UPI0000458904	3152					SNV	ASPM,stop_gained,p.Arg3152Ter,ENST00000367409,NM_018136.4;ASPM,stop_gained,p.Arg1567Ter,ENST00000294732,NM_001206846.1;ASPM,stop_gained,p.Arg817Ter,ENST00000367408,;	uc001gtu.2	c.9454C>T	9711/10887	5	1			c.9454C>T						1	SNP	c.(9454-9456)CGA>TGA	61	61			ovary(4)|central_nervous_system(2)	6	Broad	asp (abnormal spindle)-like, microcephaly			197060162		0.289	ENSG00000066279	1033	g.chr1:197060162G>A	mitosis	cytoplasm|nucleus	calmodulin binding							53.836972	KEEP	5	13	-1	16	17	5	13	-1	54.495843	16	17	0.375	1	0	0	0	0	0	1	0	0	--	--		0	A			ASPM_uc001gtv.2_Nonsense_Mutation_p.R1567*|ASPM_uc001gtw.3_Nonsense_Mutation_p.R1000*	275	GBM-76-6192-TP	p.R3152*	G	AATCTTGCTCGAAACCATCTC	NM_018136	NP_060606	197060162	Q8IZT6	ASPM_HUMAN	0			23	9711	-	A	A			Nonsense_Mutation	3152						
ASS1	445	broad.mit.edu	GRCh37	9	133364801	133364801	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01	TCGA-06-0241-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372394.1:c.920G>A	p.Arg307His	p.R307H	ENST00000372394		307	cGc/cAc	0		A:0	1	A:0		A	R/H	uc004bzm.2	protein_coding		CCDS6933.1			920/1239									ovary(1)	1	c.(919-921)CGC>CAC			HAMAP:MF_00005,hmmpanther:PTHR11587:SF1,hmmpanther:PTHR11587,Pfam_domain:PF00764,TIGRFAM_domain:TIGR00032,Gene3D:3.90.1260.10,Superfamily_domains:SSF69864	argininosuccinate synthetase 1	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	A:0		ENSP00000253004	A:0.001	15-Dec	4.94E-05	9.65E-05	8.64E-05			3.00E-05		0.000121	rs571576756,COSM3413382	15-Dec	.		ENST00000352480	Transcript	1	A:0.0002	arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	ENSG00000130707	g.chr9:133364801G>A	758			MODERATE		1.725	low	getma.org/?cm=msa&ty=f&p=ASSY_HUMAN&rb=8&re=403&var=R307H	getma.org/pdb.php?prot=ASSY_HUMAN&from=8&to=403&var=R307H	getma.org/?cm=var&var=hg19,9,133364801,G,A&fts=all	R307H	--	--	1																																		ASS1_uc004bzn.2_Missense_Mutation_p.R307H|ASS1_uc010mza.2_Missense_Mutation_p.R383H|ASS1_uc004bzo.2_Missense_Mutation_p.R288H|ASS1_uc010mzb.2_Missense_Mutation_p.R345H|ASS1_uc004bzp.2_Missense_Mutation_p.R307H|ASS1_uc010mzc.2_Missense_Mutation_p.R307H	0,1			benign(0.017)	p.R307H	NM_000050	NP_000041	A:0	tolerated(0.11)	0,1	ASSY_HUMAN	ASS1	HGNC	P00966	ASSY_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Q8NFZ7_HUMAN,Q5T6L6_HUMAN,Q5T6L4_HUMAN		13	1276	+			UPI00000015D6	307		R -> C (in CTLN1).			SNV	ASS1,missense_variant,p.Arg307His,ENST00000372394,;ASS1,missense_variant,p.Arg307His,ENST00000352480,NM_054012.3;ASS1,missense_variant,p.Arg307His,ENST00000372393,NM_000050.4;ASS1,missense_variant,p.Arg64His,ENST00000372386,;ASS1,non_coding_transcript_exon_variant,,ENST00000470849,;ASS1,non_coding_transcript_exon_variant,,ENST00000492400,;ASS1,downstream_gene_variant,,ENST00000493984,;	uc004bzm.2	c.920G>A	992/1564	2	2			c.920G>A						9	SNP	c.(919-921)CGC>CAC	38	38			ovary(1)	1	Broad	argininosuccinate synthetase 1		Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	133364801		0.532	ENSG00000130707	1038	g.chr9:133364801G>A	arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding							-84.749521	KEEP	4	4	-1	158	235	4	4	-1	8.01324	158	235	0.017045	1	0	0	0	0	1	0	0	0	--	--		0	A			ASS1_uc004bzn.2_Missense_Mutation_p.R307H|ASS1_uc010mza.2_Missense_Mutation_p.R383H|ASS1_uc004bzo.2_Missense_Mutation_p.R288H|ASS1_uc010mzb.2_Missense_Mutation_p.R345H|ASS1_uc004bzp.2_Missense_Mutation_p.R307H|ASS1_uc010mzc.2_Missense_Mutation_p.R307H	57	GBM-06-0241-TP	p.R307H	G	CGGGAAGTGCGCAAAATCAAA	NM_000050	NP_000041	133364801	P00966	ASSY_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;0.000514)	13	1276	+	A	A			Missense_Mutation	307		R -> C (in CTLN1).				
ASS1	0	broad.mit.edu	GRCh37	9	133342180	133342180	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2615-01	TCGA-32-2615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000352480.5:c.489C>T	p.Tyr163=	p.Y163=	ENST00000352480	NM_054012.3	163	taC/taT	0	T:0.0005		1			T	Y	uc004bzm.2	protein_coding		CCDS6933.1			489/1239									ovary(1)	1	c.(487-489)TAC>TAT			HAMAP:MF_00005,hmmpanther:PTHR11587:SF1,hmmpanther:PTHR11587,Pfam_domain:PF00764,TIGRFAM_domain:TIGR00032,Gene3D:3.40.50.620,Superfamily_domains:SSF52402	argininosuccinate synthetase 1	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)		T:0	ENSP00000253004		15-Jun	4.94E-05	0.000291				4.53E-05			rs377319610,COSM3413381	15-Jun	.		ENST00000352480	Transcript	1		arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	ENSG00000130707	g.chr9:133342180C>T	758			LOW								--	--	1																																		ASS1_uc004bzn.2_Silent_p.Y163Y|ASS1_uc010mza.2_Silent_p.Y239Y|ASS1_uc004bzo.2_Silent_p.Y144Y|ASS1_uc010mzb.2_Silent_p.Y201Y|ASS1_uc004bzp.2_Silent_p.Y163Y|ASS1_uc010mzc.2_Silent_p.Y163Y	0,1				p.Y163Y	NM_000050	NP_000041			0,1	ASSY_HUMAN	ASS1	HGNC	P00966	ASSY_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Q8NFZ7_HUMAN,Q5T6L6_HUMAN,Q5T6L4_HUMAN		7	845	+			UPI00000015D6	163					SNV	ASS1,synonymous_variant,p.=,ENST00000372394,;ASS1,synonymous_variant,p.=,ENST00000352480,NM_054012.3;ASS1,synonymous_variant,p.=,ENST00000372393,NM_000050.4;ASS1,synonymous_variant,p.=,ENST00000422569,;ASS1,synonymous_variant,p.=,ENST00000443588,;ASS1,non_coding_transcript_exon_variant,,ENST00000493984,;ASS1,non_coding_transcript_exon_variant,,ENST00000467695,;	uc004bzm.2	c.489C>T	561/1564	2	2			c.489C>T						9	SNP	c.(487-489)TAC>TAT	32	32			ovary(1)	1	Broad	argininosuccinate synthetase 1		Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	133342180		0.612	ENSG00000130707	1038	g.chr9:133342180C>T	arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding							77.373355	KEEP	14	14	-1	19	23	14	14	-1	77.929659	19	23	0.4	1	0	0	0	0	0	0	1	0	--	--		0	T			ASS1_uc004bzn.2_Silent_p.Y163Y|ASS1_uc010mza.2_Silent_p.Y239Y|ASS1_uc004bzo.2_Silent_p.Y144Y|ASS1_uc010mzb.2_Silent_p.Y201Y|ASS1_uc004bzp.2_Silent_p.Y163Y|ASS1_uc010mzc.2_Silent_p.Y163Y	239	GBM-32-2615-TP	p.Y163Y	C	TGATGGAGTACGCAAAGGTAT	NM_000050	NP_000041	133342180	P00966	ASSY_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;0.000514)	7	845	+	T	T			Silent	163						
ASTL	0	broad.mit.edu	GRCh37	2	96795617	96795617	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342380.2:c.820C>T	p.Arg274Trp	p.R274W	ENST00000342380	NM_001002036.3	274	Cgg/Tgg	0		A:0	1	A:0		A	R/W	uc010yui.1	protein_coding	YES	CCDS33249.1			820/1296										0	c.(820-822)CGG>TGG			Prints_domain:PR00480,Superfamily_domains:SSF55486,Gene3D:3.40.390.10,Pfam_domain:PF01400,hmmpanther:PTHR10127	astacin-like metalloendopeptidase precursor		A:0.001		ENSP00000343674	A:0	9-Aug	2.47E-05			0.000116		3.03E-05			rs568621983,COSM2154819	9-Aug	.		ENST00000342380	Transcript		A:0.0002	proteolysis		metalloendopeptidase activity|zinc ion binding	ENSG00000188886	g.chr2:96795617G>A	31704			MODERATE		3.04	medium	getma.org/?cm=msa&ty=f&p=ASTL_HUMAN&rb=92&re=283&var=R274W	getma.org/pdb.php?prot=ASTL_HUMAN&from=92&to=283&var=R274W	getma.org/?cm=var&var=hg19,2,96795617,G,A&fts=all	R274W	--	--	1																																			0,1	1		probably_damaging(1)	p.R274W	NM_001002036	NP_001002036	A:0	deleterious(0)	0,1	ASTL_HUMAN	ASTL	HGNC	Q6HA08	ASTL_HUMAN					8	820	-			UPI0000161978	274					SNV	ASTL,missense_variant,p.Arg274Trp,ENST00000342380,NM_001002036.3;ASTL,downstream_gene_variant,,ENST00000470582,;	uc010yui.1	c.820C>T	820/1296	2	2			c.820C>T						2	SNP	c.(820-822)CGG>TGG	25	25				0	Broad	astacin-like metalloendopeptidase precursor			96795617		0.652	ENSG00000188886	1040	g.chr2:96795617G>A	proteolysis		metalloendopeptidase activity|zinc ion binding							52.503694	KEEP	19	9	-1	29	31	19	9	-1	54.033497	29	31	0.327586	1	0	0	0	0	1	0	0	0	--	--		0	A				139	GBM-14-0817-TP	p.R274W	G	TTGAGGACCCGGGTGATGTCC	NM_001002036	NP_001002036	96795617	Q6HA08	ASTL_HUMAN	0			8	820	-	A	A			Missense_Mutation	274						
ASTL	0	broad.mit.edu	GRCh37	2	96798441	96798441	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs145986421		TCGA-19-2623-01	TCGA-19-2623-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342380.2:c.475C>T	p.Arg159Cys	p.R159C	ENST00000342380	NM_001002036.3	159	Cgc/Tgc	0	A:0		1			A	R/C	uc010yui.1	protein_coding	YES	CCDS33249.1			475/1296										0	c.(475-477)CGC>TGC			Superfamily_domains:SSF55486,SMART_domains:SM00235,Gene3D:3.40.390.10,Pfam_domain:PF01400,hmmpanther:PTHR10127	astacin-like metalloendopeptidase precursor			A:0.0002	ENSP00000343674		9-Jun	6.59E-05		8.66E-05			4.58E-05		0.000249	rs145986421,COSM2825270	9-Jun	.		ENST00000342380	Transcript			proteolysis		metalloendopeptidase activity|zinc ion binding	ENSG00000188886	g.chr2:96798441G>A	31704			MODERATE		3.145	medium	getma.org/?cm=msa&ty=f&p=ASTL_HUMAN&rb=92&re=283&var=R159C	getma.org/pdb.php?prot=ASTL_HUMAN&from=92&to=283&var=R159C	getma.org/?cm=var&var=hg19,2,96798441,G,A&fts=all	R159C	--	--	1																																			0,1	1		probably_damaging(0.998)	p.R159C	NM_001002036	NP_001002036		deleterious(0.01)	0,1	ASTL_HUMAN	ASTL	HGNC	Q6HA08	ASTL_HUMAN					6	475	-			UPI0000161978	159					SNV	ASTL,missense_variant,p.Arg159Cys,ENST00000342380,NM_001002036.3;ASTL,downstream_gene_variant,,ENST00000470582,;	uc010yui.1	c.475C>T	475/1296	1	1			c.475C>T						2	SNP	c.(475-477)CGC>TGC	59	59				0	Broad	astacin-like metalloendopeptidase precursor			96798441		0.627	ENSG00000188886	1040	g.chr2:96798441G>A	proteolysis		metalloendopeptidase activity|zinc ion binding							123.51686	KEEP	21	33	-1	29	45	21	33	-1	124.097364	29	45	0.422018	1	0	0	0	0	1	0	0	0	--	--		0	A				163	GBM-19-2623-TP	p.R159C	G	CCTCCACTGCGCCCCACACTC	NM_001002036	NP_001002036	96798441	Q6HA08	ASTL_HUMAN	0			6	475	-	A	A			Missense_Mutation	159						
ASTN1	0	broad.mit.edu	GRCh37	1	176993825	176993825	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-32-2615-01	TCGA-32-2615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361833.2:c.1164G>T	p.Leu388=	p.L388=	ENST00000361833		388	ctG/ctT	0			1			A	L	uc001glc.2	protein_coding	YES	CCDS1319.1			1164/3885									ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15	c.(1162-1164)CTG>CTT			hmmpanther:PTHR16592,hmmpanther:PTHR16592:SF8,Transmembrane_helices:TMhelix	astrotactin isoform 1				ENSP00000354536		23-Jun									COSM3400020	23-Jun	.		ENST00000361833	Transcript			cell migration|neuron cell-cell adhesion	integral to membrane		ENSG00000152092	g.chr1:176993825C>A	773			LOW								--	--	1																																		ASTN1_uc001glb.1_Silent_p.L388L|ASTN1_uc001gld.1_Silent_p.L388L|ASTN1_uc009wwx.1_Silent_p.L388L|ASTN1_uc001gle.3_RNA	1	1			p.L388L	NM_004319	NP_004310			1	ASTN1_HUMAN	ASTN1	HGNC	O14525	ASTN1_HUMAN			Q96BL7_HUMAN		6	1376	-			UPI0000160388	388			Helical; (Potential).		SNV	ASTN1,synonymous_variant,p.=,ENST00000367654,NM_004319.1;ASTN1,synonymous_variant,p.=,ENST00000361833,;ASTN1,synonymous_variant,p.=,ENST00000367657,NM_001286164.1;ASTN1,synonymous_variant,p.=,ENST00000424564,NM_207108.1;MIR488,downstream_gene_variant,,ENST00000365739,;ASTN1,non_coding_transcript_exon_variant,,ENST00000281881,;ASTN1,non_coding_transcript_exon_variant,,ENST00000473640,;	uc001glc.2	c.1164G>T	1178/7116	2	2			c.1164G>T						1	SNP	c.(1162-1164)CTG>CTT	48	48			ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15	Broad	astrotactin isoform 1			176993825		0.512	ENSG00000152092	1041	g.chr1:176993825C>A	cell migration|neuron cell-cell adhesion	integral to membrane				849			849	-6.228022	KEEP	2	1	0.333333333	28	33	2	1	0.333333333	6.384354	28	33	0.050847	1	0	0	0	0	0	0	1	0	--	--		0	A			ASTN1_uc001glb.1_Silent_p.L388L|ASTN1_uc001gld.1_Silent_p.L388L|ASTN1_uc009wwx.1_Silent_p.L388L|ASTN1_uc001gle.3_RNA	239	GBM-32-2615-TP	p.L388L	C	TGATGCTGATCAGGGTCAAGG	NM_004319	NP_004310	176993825	O14525	ASTN1_HUMAN	0			6	1376	-	A	A			Silent	388			Helical; (Potential).			
ASTN2	0	broad.mit.edu	GRCh37	9	119488220	119488220	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-5955-01	TCGA-19-5955-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313400.4:c.2636A>G	p.Asn879Ser	p.N879S	ENST00000313400		879	aAt/aGt	0			1			C	N/S	uc004bjs.1	protein_coding					2636/4020									skin(4)|ovary(3)|breast(1)|kidney(1)	9	c.(2635-2637)AAT>AGT			Pfam_domain:PF01823,hmmpanther:PTHR16592,SMART_domains:SM00457	astrotactin 2 isoform c				ENSP00000314038		16/23									COSM3413304,COSM3413305	16/23	.		ENST00000313400	Transcript				integral to membrane		ENSG00000148219	g.chr9:119488220T>C	17021			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=ASTN2_HUMAN&rb=853&re=967&var=N879S	NA	getma.org/?cm=var&var=hg19,9,119488220,T,C&fts=all	N879S	--	--	1																																		ASTN2_uc004bjr.1_Missense_Mutation_p.N875S|ASTN2_uc004bjt.1_Missense_Mutation_p.N828S	1,1			benign(0.145)	p.N879S	NM_198187	NP_937830		tolerated(0.23)	1,1	ASTN2_HUMAN	ASTN2	HGNC	O75129	ASTN2_HUMAN			B7ZKP3_HUMAN,B2RCB6_HUMAN		16	2737	-			UPI0000359605	879			Extracellular (Potential).		SNV	ASTN2,missense_variant,p.Asn879Ser,ENST00000313400,;ASTN2,missense_variant,p.Asn875Ser,ENST00000373996,;ASTN2,missense_variant,p.Asn828Ser,ENST00000361209,NM_014010.4;ASTN2,missense_variant,p.Asn602Ser,ENST00000373986,;ASTN2,5_prime_UTR_variant,,ENST00000361477,;	uc004bjs.1	c.2636A>G	2737/4747	4	4			c.2636A>G						9	SNP	c.(2635-2637)AAT>AGT	47	47			skin(4)|ovary(3)|breast(1)|kidney(1)	9	Broad	astrotactin 2 isoform c			119488220		0.542	ENSG00000148219	1042	g.chr9:119488220T>C		integral to membrane								49.4257	KEEP	8	12	-1	42	45	8	12	-1	58.57509	42	45	0.188119	1	0	0	0	0	1	0	0	0	--	--		0	C			ASTN2_uc004bjr.1_Missense_Mutation_p.N875S|ASTN2_uc004bjt.1_Missense_Mutation_p.N828S	175	GBM-19-5955-TP	p.N879S	T	CTTGAGAACATTAGTGAAGCC	NM_198187	NP_937830	119488220	O75129	ASTN2_HUMAN	0			16	2737	-	C	C			Missense_Mutation	879			Extracellular (Potential).			
ASTN2	0	broad.mit.edu	GRCh37	9	119204775	119204775	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-27-2521-01	TCGA-27-2521-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313400.4:c.3555C>A	p.Thr1185=	p.T1185=	ENST00000313400		1185	acC/acA	0			1			T	T	uc004bjs.1	protein_coding					3555/4020									skin(4)|ovary(3)|breast(1)|kidney(1)	9	c.(3553-3555)ACC>ACA			Gene3D:2.60.40.10,hmmpanther:PTHR16592,Superfamily_domains:SSF49265	astrotactin 2 isoform c				ENSP00000314038		21/23									COSM3413300,COSM3413301,COSM3413303,COSM3413302	21/23	.		ENST00000313400	Transcript				integral to membrane		ENSG00000148219	g.chr9:119204775G>T	17021			LOW								--	--	1																																		ASTN2_uc004bjr.1_Silent_p.T1181T|ASTN2_uc004bjt.1_Silent_p.T1134T|ASTN2_uc004bjp.1_Silent_p.T278T|ASTN2_uc004bjq.1_Silent_p.T237T|ASTN2_uc011lxr.1_Silent_p.T237T|ASTN2_uc011lxs.1_Silent_p.T237T|ASTN2_uc011lxt.1_Silent_p.T237T|ASTN2_uc004bjo.1_5'UTR	1,1,1,1				p.T1185T	NM_198187	NP_937830			1,1,1,1	ASTN2_HUMAN	ASTN2	HGNC	O75129	ASTN2_HUMAN			B7ZKP3_HUMAN,B2RCB6_HUMAN		21	3656	-			UPI0000359605	1185			Extracellular (Potential).|Fibronectin type-III.		SNV	ASTN2,synonymous_variant,p.=,ENST00000313400,;ASTN2,synonymous_variant,p.=,ENST00000373996,;ASTN2,synonymous_variant,p.=,ENST00000361209,NM_014010.4;ASTN2,synonymous_variant,p.=,ENST00000361477,;ASTN2,synonymous_variant,p.=,ENST00000373986,;ASTN2,synonymous_variant,p.=,ENST00000288520,NM_198186.3;ASTN2,synonymous_variant,p.=,ENST00000341734,NM_198187.3,NM_198188.2,NM_001184734.1;ASTN2,upstream_gene_variant,,ENST00000417725,;	uc004bjs.1	c.3555C>A	3656/4747	1	1			c.3555C>A						9	SNP	c.(3553-3555)ACC>ACA	2	2			skin(4)|ovary(3)|breast(1)|kidney(1)	9	Broad	astrotactin 2 isoform c			119204775		0.512	ENSG00000148219	1042	g.chr9:119204775G>T		integral to membrane								231.739762	KEEP	49	44	0.52688172	29	24	49	44	0.52688172	233.646846	29	24	0.635593	1	0	0	0	0	0	0	1	0	--	--		0	T			ASTN2_uc004bjr.1_Silent_p.T1181T|ASTN2_uc004bjt.1_Silent_p.T1134T|ASTN2_uc004bjp.1_Silent_p.T278T|ASTN2_uc004bjq.1_Silent_p.T237T|ASTN2_uc011lxr.1_Silent_p.T237T|ASTN2_uc011lxs.1_Silent_p.T237T|ASTN2_uc011lxt.1_Silent_p.T237T|ASTN2_uc004bjo.1_5'UTR	200	GBM-27-2521-TP	p.T1185T	G	CCGTCCTCAGGGTCACCGTGC	NM_198187	NP_937830	119204775	O75129	ASTN2_HUMAN	0			21	3656	-	T	T			Silent	1185			Extracellular (Potential).|Fibronectin type-III.			
ASTN2	23245		GRCh37	9	119770488	119770488	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000361209.2:c.1321T>C	p.Leu441=	p.L441=	ENST00000361209	NM_014010.4	441	Tta/Cta	0																																																																																																																																																																																																																																												
ASUN	0	broad.mit.edu	GRCh37	12	27059333	27059333	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-0129-01	TCGA-06-0129-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261191.7:c.1983C>A	p.Ile661=	p.I661=	ENST00000261191	NM_018164.2	661	atC/atA	0			1			T	I	uc001rhk.3	protein_coding	YES	CCDS8708.1			1983/2121									large_intestine(1)|ovary(1)|central_nervous_system(1)	3	c.(1981-1983)ATC>ATA			Pfam_domain:PF10221,hmmpanther:PTHR12955,hmmpanther:PTHR12955:SF1	hypothetical protein LOC55726				ENSP00000261191		16/17									COSM3398639	16/17	.		ENST00000261191	Transcript			cell division|mitosis|regulation of mitotic cell cycle		protein binding	ENSG00000064102	g.chr12:27059333G>T	20174			LOW								--	--	1																																		C12orf11_uc001rhj.3_Silent_p.I229I|C12orf11_uc010sjk.1_Silent_p.I560I	1	1			p.I661I	NM_018164	NP_060634			1	ASUN_HUMAN	ASUN	HGNC	Q9NVM9	M89BB_HUMAN			F8VRX9_HUMAN,F5H5W1_HUMAN,F5H457_HUMAN,B4DNK1_HUMAN		16	2520	-	Colorectal(261;0.0847)		UPI0000044950	661					SNV	ASUN,synonymous_variant,p.=,ENST00000261191,NM_018164.2;ASUN,synonymous_variant,p.=,ENST00000539625,;ASUN,synonymous_variant,p.=,ENST00000538155,;ASUN,non_coding_transcript_exon_variant,,ENST00000538016,;	uc001rhk.3	c.1983C>A	2520/2974	1	1			c.1983C>A						12	SNP	c.(1981-1983)ATC>ATA	4	4			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Broad	hypothetical protein LOC55726			27059333		0.308	ENSG00000064102	1638	g.chr12:27059333G>T	cell division|mitosis|regulation of mitotic cell cycle		protein binding							31.656311	KEEP	19	11	0.633333333	99	123	19	11	0.633333333	64.765811	99	123	0.117391	1	0	0	0	0	0	0	1	0	--	--		0	T			C12orf11_uc001rhj.3_Silent_p.I229I|C12orf11_uc010sjk.1_Silent_p.I560I	15	GBM-06-0129-TP	p.I661I	G	TGGCAGTATTGATTCTATTAC	NM_018164	NP_060634	27059333	Q9NVM9	M89BB_HUMAN	0			16	2520	-	T	T	Colorectal(261;0.0847)		Silent	661						
ASXL2	0	broad.mit.edu	GRCh37	2	25965918	25965918	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000435504.4:c.3288G>A	p.Gln1096=	p.Q1096=	ENST00000435504		1096	caG/caA	0			1			T	Q	uc002rgs.2	protein_coding	YES				3288/4308									pancreas(1)	1	c.(3286-3288)CAG>CAA			hmmpanther:PTHR13578:SF11,hmmpanther:PTHR13578	additional sex combs like 2				ENSP00000391447		13/13									COSM3407775,COSM3407774	13/13	.		ENST00000435504	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	ENSG00000143970	g.chr2:25965918C>T	23805			LOW								--	--	1																																		ASXL2_uc002rgt.1_Silent_p.Q579Q	1,1	1			p.Q1096Q	NM_018263	NP_060733			1,1	ASXL2_HUMAN	ASXL2	HGNC	Q76L83	ASXL2_HUMAN					12	3509	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		UPI00001DFBE8	1096					SNV	ASXL2,synonymous_variant,p.=,ENST00000435504,;ASXL2,synonymous_variant,p.=,ENST00000336112,NM_018263.4;ASXL2,synonymous_variant,p.=,ENST00000272341,;ASXL2,synonymous_variant,p.=,ENST00000404843,;	uc002rgs.2	c.3288G>A	3582/12878	1	1			c.3288G>A						2	SNP	c.(3286-3288)CAG>CAA	6	6			pancreas(1)	1	Broad	additional sex combs like 2			25965918		0.493	ENSG00000143970	1044	g.chr2:25965918C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding							172.341971	KEEP	37	24	-1	96	55	37	24	-1	179.47806	96	55	0.3	1	0	0	0	0	0	0	1	0	--	--		0	T			ASXL2_uc002rgt.1_Silent_p.Q579Q	138	GBM-14-0813-TP	p.Q1096Q	C	TGTCTTCCAGCTGGAAACCTG	NM_018263	NP_060733	25965918	Q76L83	ASXL2_HUMAN	0			12	3509	-	T	T	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Silent	1096						
ASXL2	0	broad.mit.edu	GRCh37	2	25966927	25966927	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-41-2575-01	TCGA-41-2575-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000435504.4:c.2279C>A	p.Pro760Gln	p.P760Q	ENST00000435504		760	cCa/cAa	0			1			T	P/Q	uc002rgs.2	protein_coding	YES				2279/4308									pancreas(1)	1	c.(2278-2280)CCA>CAA			hmmpanther:PTHR13578:SF11,hmmpanther:PTHR13578	additional sex combs like 2				ENSP00000391447		13/13									COSM3748126,COSM3748125	13/13	.		ENST00000435504	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	ENSG00000143970	g.chr2:25966927G>T	23805			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=ASXL2_HUMAN&rb=588&re=787&var=P760Q	NA	getma.org/?cm=var&var=hg19,2,25966927,G,T&fts=all	P760Q	--	--	1																																		ASXL2_uc002rgt.1_Missense_Mutation_p.P500Q	1,1	1		possibly_damaging(0.786)	p.P760Q	NM_018263	NP_060733		deleterious_low_confidence(0)	1,1	ASXL2_HUMAN	ASXL2	HGNC	Q76L83	ASXL2_HUMAN					12	2500	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		UPI00001DFBE8	760					SNV	ASXL2,missense_variant,p.Pro760Gln,ENST00000435504,;ASXL2,missense_variant,p.Pro732Gln,ENST00000336112,NM_018263.4;ASXL2,missense_variant,p.Pro500Gln,ENST00000272341,;ASXL2,missense_variant,p.Pro500Gln,ENST00000404843,;	uc002rgs.2	c.2279C>A	2573/12878	2	2			c.2279C>A						2	SNP	c.(2278-2280)CCA>CAA	47	47			pancreas(1)	1	Broad	additional sex combs like 2			25966927		0.587	ENSG00000143970	1044	g.chr2:25966927G>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding							-26.741789	KEEP	4	8	0.333333333	101	70	4	8	0.333333333	7.54044	101	70	0.04	1	0	0	0	0	1	0	0	0	--	--		0	T			ASXL2_uc002rgt.1_Missense_Mutation_p.P500Q	253	GBM-41-2575-TP	p.P760Q	G	TGCCTGGCTTGGGGTGGTCTT	NM_018263	NP_060733	25966927	Q76L83	ASXL2_HUMAN	0			12	2500	-	T	T	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Missense_Mutation	760						
ASXL3	80816	broad.mit.edu	GRCh37	18	31320334	31320334	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269197.5:c.2966G>A	p.Arg989Gln	p.R989Q	ENST00000269197	NM_030632.1	989	cGg/cAg	0			1			A	R/Q	uc010dmg.1	protein_coding	YES	CCDS45847.1			2966/6747									ovary(2)|pancreas(1)	3	c.(2965-2967)CGG>CAG			hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF18	additional sex combs like 3				ENSP00000269197		12-Nov	2.48E-05		0.000226						rs764709254,COSM2810374,COSM2810373	12-Nov	.		ENST00000269197	Transcript	1		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	ENSG00000141431	g.chr18:31320334G>A	29357			MODERATE		0.61	neutral	getma.org/?cm=msa&ty=f&p=ASXL3_HUMAN&rb=968&re=1167&var=R989Q	NA	getma.org/?cm=var&var=hg19,18,31320334,G,A&fts=all	R989Q	--	--	1																																		ASXL3_uc002kxq.2_Missense_Mutation_p.R696Q	0,1,1	1		possibly_damaging(0.883)	p.R989Q	NM_030632	NP_085135			0,1,1	ASXL3_HUMAN	ASXL3	HGNC	Q9C0F0	ASXL3_HUMAN			K7EQY1_HUMAN		11	3021	+			UPI000156D0F3	989					SNV	ASXL3,missense_variant,p.Arg989Gln,ENST00000269197,NM_030632.1;ASXL3,3_prime_UTR_variant,,ENST00000592288,;	uc010dmg.1	c.2966G>A	2966/11344	2	2			c.2966G>A						18	SNP	c.(2965-2967)CGG>CAG	45	45			ovary(2)|pancreas(1)	3	Broad	additional sex combs like 3			31320334		0.433	ENSG00000141431	1045	g.chr18:31320334G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding							23.693874	KEEP	4	4	-1	10	7	4	4	-1	24.412103	10	7	0.32	1	0	0	0	0	1	0	0	0	--	--		0	A			ASXL3_uc002kxq.2_Missense_Mutation_p.R696Q	8	GBM-02-2486-TP	p.R989Q	G	CAGTCAACCCGGAACATATCA	NM_030632	NP_085135	31320334	Q9C0F0	ASXL3_HUMAN	0			11	3021	+	A	A			Missense_Mutation	989						
ASZ1	136991	broad.mit.edu	GRCh37	7	117024817	117024817	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0238-01	TCGA-06-0238-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284629.2:c.650T>C	p.Met217Thr	p.M217T	ENST00000284629	NM_130768.2	217	aTg/aCg	0			1			G	M/T	uc003vjb.2	protein_coding	YES	CCDS5772.1			650/1428									central_nervous_system(2)|ovary(1)	3	c.(649-651)ATG>ACG			PROSITE_profiles:PS50297,hmmpanther:PTHR24157,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	ankyrin repeat, SAM and basic leucine zipper				ENSP00000284629		13-Jun									COSM2151083	13-Jun	.		ENST00000284629	Transcript			cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	ENSG00000154438	g.chr7:117024817A>G	1350			MODERATE		-1.745	neutral	getma.org/?cm=msa&ty=f&p=ASZ1_HUMAN&rb=213&re=270&var=M217T	NA	getma.org/?cm=var&var=hg19,7,117024817,A,G&fts=all	M217T	--	--	1																																		ASZ1_uc011kno.1_Missense_Mutation_p.M217T|ASZ1_uc011knp.1_Missense_Mutation_p.M9T	1	1		benign(0)	p.M217T	NM_130768	NP_570124		tolerated(1)	1	ASZ1_HUMAN	ASZ1	HGNC	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		C9JP59_HUMAN,B7ZM20_HUMAN		6	713	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		UPI0000070EE2	217			ANK 6.		SNV	ASZ1,missense_variant,p.Met217Thr,ENST00000284629,NM_130768.2;ASZ1,3_prime_UTR_variant,,ENST00000450714,;ASZ1,non_coding_transcript_exon_variant,,ENST00000463182,;ASZ1,non_coding_transcript_exon_variant,,ENST00000465832,;ASZ1,non_coding_transcript_exon_variant,,ENST00000479454,;	uc003vjb.2	c.650T>C	713/1865	3	3			c.650T>C						7	SNP	c.(649-651)ATG>ACG	4	4			central_nervous_system(2)|ovary(1)	3	Broad	ankyrin repeat, SAM and basic leucine zipper			117024817		0.353	ENSG00000154438	1046	g.chr7:117024817A>G	cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity							149.921929	KEEP	32	29	-1	116	108	32	29	-1	167.550821	116	108	0.220408	1	0	0	0	0	1	0	0	0	--	--		0	G			ASZ1_uc011kno.1_Missense_Mutation_p.M217T|ASZ1_uc011knp.1_Missense_Mutation_p.M9T	55	GBM-06-0238-TP	p.M217T	A	CTCACTTGGCATCTTTCCATC	NM_130768	NP_570124	117024817	Q8WWH4	ASZ1_HUMAN	0	STAD - Stomach adenocarcinoma(10;0.000512)		6	713	-	G	G	Lung NSC(10;0.00156)|all_lung(10;0.00175)		Missense_Mutation	217			ANK 6.			
ASZ1	136991	broad.mit.edu	GRCh37	7	117020042	117020042	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0749-01	TCGA-06-0749-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284629.2:c.1005A>G	p.Val335=	p.V335=	ENST00000284629	NM_130768.2	335	gtA/gtG	0			1			C	V	uc003vjb.2	protein_coding	YES	CCDS5772.1			1005/1428									central_nervous_system(2)|ovary(1)	3	c.(1003-1005)GTA>GTG			hmmpanther:PTHR24157,Gene3D:1.10.150.50,Superfamily_domains:SSF47769	ankyrin repeat, SAM and basic leucine zipper				ENSP00000284629		13-Oct	8.24E-06							6.10E-05	rs773571018,COSM3411515	13-Oct	.		ENST00000284629	Transcript			cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	ENSG00000154438	g.chr7:117020042T>C	1350			LOW								--	--	1																																		ASZ1_uc011kno.1_Silent_p.V335V|ASZ1_uc011knp.1_Silent_p.V127V	0,1	1			p.V335V	NM_130768	NP_570124			0,1	ASZ1_HUMAN	ASZ1	HGNC	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		C9JP59_HUMAN,B7ZM20_HUMAN		10	1068	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		UPI0000070EE2	335					SNV	ASZ1,synonymous_variant,p.=,ENST00000284629,NM_130768.2;ASZ1,3_prime_UTR_variant,,ENST00000450714,;ASZ1,non_coding_transcript_exon_variant,,ENST00000463182,;ASZ1,non_coding_transcript_exon_variant,,ENST00000465832,;ASZ1,non_coding_transcript_exon_variant,,ENST00000479454,;	uc003vjb.2	c.1005A>G	1068/1865	4	4			c.1005A>G						7	SNP	c.(1003-1005)GTA>GTG	41	41			central_nervous_system(2)|ovary(1)	3	Broad	ankyrin repeat, SAM and basic leucine zipper			117020042		0.308	ENSG00000154438	1046	g.chr7:117020042T>C	cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity							11.608749	KEEP	4	6	-1	55	41	4	6	-1	25.230444	55	41	0.103448	1	0	0	0	0	0	0	1	0	--	--		0	C			ASZ1_uc011kno.1_Silent_p.V335V|ASZ1_uc011knp.1_Silent_p.V127V	69	GBM-06-0749-TP	p.V335V	T	GTATCTCTTCTACCTGTAGTT	NM_130768	NP_570124	117020042	Q8WWH4	ASZ1_HUMAN	0	STAD - Stomach adenocarcinoma(10;0.000512)		10	1068	-	C	C	Lung NSC(10;0.00156)|all_lung(10;0.00175)		Silent	335						
ASZ1	136991		GRCh37	7	117067470	117067470	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000284629.2:c.45C>T	p.Gly15=	p.G15=	ENST00000284629	NM_130768.2	15	ggC/ggT	0																																																																																																																																																																																																																																												
ATAD2	29028	broad.mit.edu	GRCh37	8	124358469	124358469	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0155-01	TCGA-06-0155-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000287394.5:c.2389A>G	p.Ile797Val	p.I797V	ENST00000287394	NM_014109.3	797	Ata/Gta	0			1			C	I/V	uc003yqh.3	protein_coding	YES	CCDS6343.1			2389/4173									ovary(2)	2	c.(2389-2391)ATA>GTA			hmmpanther:PTHR23069,hmmpanther:PTHR23069:SF1,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	ATPase family, AAA domain containing 2				ENSP00000287394		18/28									COSM2149974	18/28	.		ENST00000287394	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	ENSG00000156802	g.chr8:124358469T>C	30123			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=ATAD2_HUMAN&rb=599&re=798&var=I797V	NA	getma.org/?cm=var&var=hg19,8,124358469,T,C&fts=all	I797V	--	--	1																																		ATAD2_uc011lii.1_Missense_Mutation_p.I588V|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.I797V	1	1		benign(0.1)	p.I797V	NM_014109	NP_054828		deleterious(0)	1	ATAD2_HUMAN	ATAD2	HGNC	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)				18	2497	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		UPI0000052A8C	797					SNV	ATAD2,missense_variant,p.Ile797Val,ENST00000287394,NM_014109.3;ATAD2,missense_variant,p.Ile115Val,ENST00000521903,;RNU6-875P,downstream_gene_variant,,ENST00000516488,;MIR548D1,upstream_gene_variant,,ENST00000384971,;ATAD2,3_prime_UTR_variant,,ENST00000517666,;ATAD2,3_prime_UTR_variant,,ENST00000519124,;ATAD2,non_coding_transcript_exon_variant,,ENST00000521496,;	uc003yqh.3	c.2389A>G	2497/5565	4	4			c.2389A>G						8	SNP	c.(2389-2391)ATA>GTA	34	34			ovary(2)	2	Broad	ATPase family, AAA domain containing 2			124358469		0.353	ENSG00000156802	1048	g.chr8:124358469T>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity							225.718795	KEEP	31	46	-1	50	64	31	46	-1	227.405742	50	64	0.392857	1	0	0	0	0	1	0	0	0	--	--		0	C			ATAD2_uc011lii.1_Missense_Mutation_p.I588V|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.I797V	27	GBM-06-0155-TP	p.I797V	T	TCTCCTACTATCAATATTCTT	NM_014109	NP_054828	124358469	Q6PL18	ATAD2_HUMAN	0	STAD - Stomach adenocarcinoma(47;0.00288)		18	2497	-	C	C	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		Missense_Mutation	797						
ATAD2	0	broad.mit.edu	GRCh37	8	124384892	124384893	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-76-4925-01	TCGA-76-4925-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000287394.5:c.354dupA	p.Glu119ArgfsTer18	p.E119Rfs*18	ENST00000287394	NM_014109.3	118	-/A	0			1			T	-/X	uc003yqh.3	protein_coding	YES	CCDS6343.1			354-355/4173									ovary(2)	2	c.(352-357)AAAGAAfs			hmmpanther:PTHR23069,hmmpanther:PTHR23069:SF1	ATPase family, AAA domain containing 2				ENSP00000287394		28-Mar									rs757023920,COSM1454663	28-Mar	.		ENST00000287394	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	ENSG00000156802	g.chr8:124384892_124384893insT	30123			HIGH								--	--	1																																		ATAD2_uc011lii.1_5'UTR|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Frame_Shift_Ins_p.K118fs	0,1	1			p.K118fs	NM_014109	NP_054828			0,1	ATAD2_HUMAN	ATAD2	HGNC	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)				3	462_463	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		UPI0000052A8C	118_119					insertion	ATAD2,frameshift_variant,p.Glu119ArgfsTer18,ENST00000287394,NM_014109.3;ATAD2,5_prime_UTR_variant,,ENST00000521903,;ATAD2,upstream_gene_variant,,ENST00000534257,;ATAD2,3_prime_UTR_variant,,ENST00000517666,;ATAD2,3_prime_UTR_variant,,ENST00000519124,;ATAD2,non_coding_transcript_exon_variant,,ENST00000521496,;ATAD2,downstream_gene_variant,,ENST00000530065,;	uc003yqh.3	c.354_355insA	462-463/5565	5	5			c.354_355insA						8	INS	c.(352-357)AAAGAAfs	46	46			ovary(2)	2	Broad	ATPase family, AAA domain containing 2			124384893		0.198	ENSG00000156802	1048	g.chr8:124384892_124384893insT	regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity																				0.02	1	0	0	1	1	0	0	0	0	--	--		0	T			ATAD2_uc011lii.1_5'UTR|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Frame_Shift_Ins_p.K118fs	265	GBM-76-4925-TP	p.K118fs	-	CTGTGCTCTTCTTTTTTTTTAT	NM_014109	NP_054828	124384892	Q6PL18	ATAD2_HUMAN	0	STAD - Stomach adenocarcinoma(47;0.00288)		3	462_463	-	T	T	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		Frame_Shift_Ins	118_119						
ATAD3B	83858	broad.mit.edu	GRCh37	1	1430871	1430871	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01	TCGA-02-0003-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308647.7:c.1621G>A	p.Ala541Thr	p.A541T	ENST00000308647	NM_031921.4	541	Gca/Aca	0			1			A	A/T	uc001afv.2	protein_coding	YES	CCDS30.1			1621/1947										0	c.(1621-1623)GCA>ACA			hmmpanther:PTHR23075,hmmpanther:PTHR23075:SF2,Superfamily_domains:SSF52540	AAA-ATPase  TOB3				ENSP00000311766		16/16									COSM3399642	16/16	.		ENST00000308647	Transcript					ATP binding|nucleoside-triphosphatase activity	ENSG00000160072	g.chr1:1430871G>A	24007			MODERATE		3.07	medium	getma.org/?cm=msa&ty=f&p=ATD3B_HUMAN&rb=476&re=580&var=A541T	NA	getma.org/?cm=var&var=hg19,1,1430871,G,A&fts=all	A541T	--	--	1																																		ATAD3B_uc001afx.2_Missense_Mutation_p.A495T|ATAD3B_uc001afy.2_Missense_Mutation_p.A94T	1	1		possibly_damaging(0.792)	p.A541T	NM_031921	NP_114127		deleterious(0.01)	1	ATD3B_HUMAN	ATAD3B	HGNC	Q5T9A4	ATD3B_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	Q9H834_HUMAN		16	1722	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	UPI000013E044	541					SNV	ATAD3B,missense_variant,p.Ala541Thr,ENST00000308647,NM_031921.4;ATAD3B,non_coding_transcript_exon_variant,,ENST00000472194,;ATAD3B,non_coding_transcript_exon_variant,,ENST00000474481,;ATAD3B,non_coding_transcript_exon_variant,,ENST00000485748,;	uc001afv.2	c.1621G>A	1737/2448	2	2			c.1621G>A						1	SNP	c.(1621-1623)GCA>ACA	40	40				0	Broad	AAA-ATPase  TOB3			1430871		0.632	ENSG00000160072	1051	g.chr1:1430871G>A			ATP binding|nucleoside-triphosphatase activity							-29.070602	KEEP	2	2	-1	79	75	2	2	-1	6.573759	79	75	0.027586	1	0	0	0	0	1	0	0	0	--	--		0	A			ATAD3B_uc001afx.2_Missense_Mutation_p.A495T|ATAD3B_uc001afy.2_Missense_Mutation_p.A94T	1	GBM-02-0003-TP	p.A541T	G	CTAGGCCACGGCATATGCCTC	NM_031921	NP_114127	1430871	Q5T9A4	ATD3B_HUMAN	0		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	16	1722	+	A	A	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	Missense_Mutation	541						
ATAD3B	0	broad.mit.edu	GRCh37	1	1412700	1412700	+	synonymous_variant	Silent	SNP	G	G	A	rs142559400	byFrequency	TCGA-76-4926-01	TCGA-76-4926-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308647.7:c.252G>A	p.Thr84=	p.T84=	ENST00000308647	NM_031921.4	84	acG/acA	0	A:0.0002		1			A	T	uc001afv.2	protein_coding	YES	CCDS30.1			252/1947										0	c.(250-252)ACG>ACA			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF12037,hmmpanther:PTHR23075,hmmpanther:PTHR23075:SF2,Low_complexity_(Seg):seg	AAA-ATPase  TOB3			A:0.0005	ENSP00000311766		16-Feb	0.000107					0.000197			rs142559400,COSM3399640,COSM3399641	16-Feb	.		ENST00000308647	Transcript					ATP binding|nucleoside-triphosphatase activity	ENSG00000160072	g.chr1:1412700G>A	24007			LOW								--	--	1																																		ATAD3B_uc001afw.2_5'Flank|ATAD3B_uc001afx.2_5'Flank	0,1,1	1			p.T84T	NM_031921	NP_114127			0,1,1	ATD3B_HUMAN	ATAD3B	HGNC	Q5T9A4	ATD3B_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	Q9H834_HUMAN		2	353	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	UPI000013E044	84			Potential.		SNV	ATAD3B,synonymous_variant,p.=,ENST00000308647,NM_031921.4;ATAD3B,5_prime_UTR_variant,,ENST00000378741,;ATAD3B,upstream_gene_variant,,ENST00000378736,;ATAD3B,upstream_gene_variant,,ENST00000472194,;	uc001afv.2	c.252G>A	368/2448	2	2			c.252G>A						1	SNP	c.(250-252)ACG>ACA	21	21				0	Broad	AAA-ATPase  TOB3			1412700		0.617	ENSG00000160072	1051	g.chr1:1412700G>A			ATP binding|nucleoside-triphosphatase activity							64.248388	KEEP	16	17	-1	25	32	16	17	-1	65.851065	25	32	0.342466	1	0	0	0	0	0	0	1	0	--	--		0	A			ATAD3B_uc001afw.2_5'Flank|ATAD3B_uc001afx.2_5'Flank	266	GBM-76-4926-TP	p.T84T	G	AGGAGCAGACGCTGCAGTTGG	NM_031921	NP_114127	1412700	Q5T9A4	ATD3B_HUMAN	0		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	2	353	+	A	A	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	Silent	84			Potential.			
ATCAY	85300	broad.mit.edu	GRCh37	19	3907818	3907818	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0219-01	TCGA-06-0219-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000450849.2:c.445G>A	p.Ala149Thr	p.A149T	ENST00000450849	NM_033064.4	149	Gcc/Acc	0	A:0.0002		1			A	A/T	uc002lyy.3	protein_coding	YES	CCDS45923.1			445/1116									breast(1)	1	c.(445-447)GCC>ACC			Pfam_domain:PF12496,hmmpanther:PTHR12112	caytaxin			A:0.0002	ENSP00000390941		13-May	9.09E-05		0.000521			7.54E-05			rs199529579,COSM2150942,COSM2150941	13-May	common_variant		ENST00000450849	Transcript	1		transport		protein binding	ENSG00000167654	g.chr19:3907818G>A	779			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=ATCAY_HUMAN&rb=57&re=187&var=A149T	NA	getma.org/?cm=var&var=hg19,19,3907818,G,A&fts=all	A149T	--	--	1																																		ATCAY_uc010xhz.1_Missense_Mutation_p.A155T|ATCAY_uc010dts.2_5'Flank	0,1,1	1		benign(0.001)	p.A149T	NM_033064	NP_149053		tolerated(0.46)	0,1,1	ATCAY_HUMAN	ATCAY	HGNC	Q86WG3	ATCAY_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)	M0R197_HUMAN		5	875	+		Hepatocellular(1079;0.137)	UPI000006DE3B	149					SNV	ATCAY,missense_variant,p.Ala149Thr,ENST00000450849,NM_033064.4;ATCAY,missense_variant,p.Ala149Thr,ENST00000600960,;ATCAY,missense_variant,p.Ala155Thr,ENST00000398448,;ATCAY,missense_variant,p.Ala149Thr,ENST00000301260,;ATCAY,downstream_gene_variant,,ENST00000598136,;ATCAY,3_prime_UTR_variant,,ENST00000597739,;	uc002lyy.3	c.445G>A	912/5070	1	1			c.445G>A						19	SNP	c.(445-447)GCC>ACC	64	64			breast(1)	1	Broad	caytaxin			3907818		0.642	ENSG00000167654	1053	g.chr19:3907818G>A	transport		protein binding							37.330659	KEEP	8	11	-1	15	32	8	11	-1	39.196721	15	32	0.291667	1	0	0	0	0	1	0	0	0	--	--		0	A			ATCAY_uc010xhz.1_Missense_Mutation_p.A155T|ATCAY_uc010dts.2_5'Flank	52	GBM-06-0219-TP	p.A149T	G	CGGCAGCGCCGCCAACGGGCG	NM_033064	NP_149053	3907818	Q86WG3	ATCAY_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)	5	875	+	A	A		Hepatocellular(1079;0.137)	Missense_Mutation	149						
ATCAY	0	broad.mit.edu	GRCh37	19	3909561	3909561	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000450849.2:c.725G>A	p.Arg242Gln	p.R242Q	ENST00000450849	NM_033064.4	242	cGg/cAg	0	A:0		1			A	R/Q	uc002lyy.3	protein_coding	YES	CCDS45923.1			725/1116									breast(1)	1	c.(724-726)CGG>CAG			Gene3D:3.40.525.10,Pfam_domain:PF13716,PROSITE_profiles:PS50191,hmmpanther:PTHR12112,SMART_domains:SM00516,Superfamily_domains:SSF52087	caytaxin			A:0.0001	ENSP00000390941		13-Jul	8.26E-06					1.72E-05			rs373780288,COSM3222730,COSM3222729	13-Jul	.		ENST00000450849	Transcript	1		transport		protein binding	ENSG00000167654	g.chr19:3909561G>A	779			MODERATE		1.02	low	getma.org/?cm=msa&ty=f&p=ATCAY_HUMAN&rb=182&re=326&var=R242Q	NA	getma.org/?cm=var&var=hg19,19,3909561,G,A&fts=all	R242Q	--	--	1																																		ATCAY_uc010xhz.1_Missense_Mutation_p.R248Q|ATCAY_uc010dts.2_5'UTR	0,1,1	1		possibly_damaging(0.897)	p.R242Q	NM_033064	NP_149053		tolerated(0.05)	0,1,1	ATCAY_HUMAN	ATCAY	HGNC	Q86WG3	ATCAY_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)	M0R197_HUMAN		7	1155	+		Hepatocellular(1079;0.137)	UPI000006DE3B	242			CRAL-TRIO.		SNV	ATCAY,missense_variant,p.Arg242Gln,ENST00000450849,NM_033064.4;ATCAY,missense_variant,p.Arg242Gln,ENST00000600960,;ATCAY,missense_variant,p.Arg248Gln,ENST00000398448,;ATCAY,missense_variant,p.Arg242Gln,ENST00000301260,;ATCAY,downstream_gene_variant,,ENST00000598136,;ATCAY,3_prime_UTR_variant,,ENST00000597739,;	uc002lyy.3	c.725G>A	1192/5070	2	2			c.725G>A						19	SNP	c.(724-726)CGG>CAG	17	17			breast(1)	1	Broad	caytaxin			3909561		0.592	ENSG00000167654	1053	g.chr19:3909561G>A	transport		protein binding							23.792411	KEEP	5	4	-1	4	17	5	4	-1	24.792648	4	17	0.296296	1	0	0	0	0	1	0	0	0	--	--		0	A			ATCAY_uc010xhz.1_Missense_Mutation_p.R248Q|ATCAY_uc010dts.2_5'UTR	177	GBM-19-5959-TP	p.R242Q	G	ACGCCCCGGCGGAGGATGCCT	NM_033064	NP_149053	3909561	Q86WG3	ATCAY_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)	7	1155	+	A	A		Hepatocellular(1079;0.137)	Missense_Mutation	242			CRAL-TRIO.			
ATCAY	85300		GRCh37	19	3918804	3918804	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000450849.2:c.1002C>T		p.X334_splice	ENST00000450849	NM_033064.4	334	agC/agT	0																																																																																																																																																																																																																																												
ATE1	11101	broad.mit.edu	GRCh37	10	123683779	123683779	+	splice_donor_variant	Splice_Site	DEL	A	A	-			TCGA-06-0745-01	TCGA-06-0745-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369043.3:c.170+2del		p.X57_splice	ENST00000369043	NM_007041.2	57		0			1			-		uc001lfp.2	protein_coding		CCDS31300.1			170/1557										0	c.e2+1				arginyltransferase 1 isoform 2				ENSP00000224652											COSM2151731,COSM2151730		.		ENST00000224652	Transcript			protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity	ENSG00000107669	g.chr10:123683779delA	782			HIGH	11-Feb							--	--	1																																		ATE1_uc001lfq.2_Splice_Site_p.R57_splice|ATE1_uc010qtr.1_Splice_Site|ATE1_uc010qts.1_Intron|ATE1_uc010qtt.1_Splice_Site_p.R50_splice|ATE1_uc001lfr.2_Splice_Site|ATE1_uc009xzu.2_Intron	1,1				p.R57_splice	NM_007041	NP_008972			1,1	ATE1_HUMAN	ATE1	HGNC	O95260	ATE1_HUMAN			B4DK25_HUMAN,B4DIK1_HUMAN,B3KWA3_HUMAN		2	252	-		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)	UPI0000126223						deletion	ATE1,splice_donor_variant,,ENST00000369043,NM_007041.2,NM_001288736.1,NM_001288735.1;ATE1,splice_donor_variant,,ENST00000535655,;ATE1,splice_donor_variant,,ENST00000224652,NM_001001976.1;ATE1,splice_donor_variant,,ENST00000423243,;ATE1,splice_donor_variant,,ENST00000540606,;ATE1,splice_donor_variant,,ENST00000543447,;ATE1,splice_donor_variant,,ENST00000455628,;ATE1,intron_variant,,ENST00000369040,;ATE1-AS1,upstream_gene_variant,,ENST00000437593,;	uc001lfp.2	c.170_splice	-/2212	5	5			c.170_splice						10	DEL	c.e2+1	45	45				0	Broad	arginyltransferase 1 isoform 2			123683779		0.413	ENSG00000107669	1054	g.chr10:123683779delA	protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity																				0.69	1	1	0	1	0	0	0	0	1	--	--		0	-			ATE1_uc001lfq.2_Splice_Site_p.R57_splice|ATE1_uc010qtr.1_Splice_Site|ATE1_uc010qts.1_Intron|ATE1_uc010qtt.1_Splice_Site_p.R50_splice|ATE1_uc001lfr.2_Splice_Site|ATE1_uc009xzu.2_Intron	67	GBM-06-0745-TP	p.R57_splice	A	TGGAAGCTTTACCTTCGCCAT	NM_007041	NP_008972	123683779	O95260	ATE1_HUMAN	0			2	252	-	-	-		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)	Splice_Site							
ATF6	0	broad.mit.edu	GRCh37	1	161816315	161816315	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-14-0813-01	TCGA-14-0813-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367942.3:c.1264T>C	p.Ser422Pro	p.S422P	ENST00000367942	NM_007348.3	422	Tct/Cct	0			1			C	S/P	uc001gbr.2	protein_coding	YES	CCDS1235.1			1264/2013									ovary(2)|skin(1)	3	c.(1264-1266)TCT>CCT			hmmpanther:PTHR22952,hmmpanther:PTHR22952:SF10	activating transcription factor 6				ENSP00000356919		16-Oct									COSM3399928	16-Oct	.		ENST00000367942	Transcript			positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	ENSG00000118217	g.chr1:161816315T>C	791			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=ATF6A_HUMAN&rb=368&re=567&var=S422P	NA	getma.org/?cm=var&var=hg19,1,161816315,T,C&fts=all	S422P	--	--	1																																		ATF6_uc001gbq.1_Missense_Mutation_p.S422P	1	1		probably_damaging(0.939)	p.S422P	NM_007348	NP_031374		deleterious(0)	1	ATF6A_HUMAN	ATF6	HGNC	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)				10	1331	+	all_hematologic(112;0.156)		UPI000013D3E4	422			Lumenal (Potential).		SNV	ATF6,missense_variant,p.Ser422Pro,ENST00000367942,NM_007348.3;ATF6,non_coding_transcript_exon_variant,,ENST00000476437,;	uc001gbr.2	c.1264T>C	1331/7496	3	3			c.1264T>C						1	SNP	c.(1264-1266)TCT>CCT	1	1			ovary(2)|skin(1)	3	Broad	activating transcription factor 6			161816315		0.403	ENSG00000118217	1060	g.chr1:161816315T>C	positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity							-29.996263	KEEP	1	3	-1	75	73	1	3	-1	6.420845	75	73	0.021127	1	0	0	0	0	1	0	0	0	--	--		0	C			ATF6_uc001gbq.1_Missense_Mutation_p.S422P	138	GBM-14-0813-TP	p.S422P	T	TCTAGGATTTTCTGCTAAAGA	NM_007348	NP_031374	161816315	P18850	ATF6A_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.00953)		10	1331	+	C	C	all_hematologic(112;0.156)		Missense_Mutation	422			Lumenal (Potential).			
ATF7	11016	broad.mit.edu	GRCh37	12	53928392	53928392	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01	TCGA-06-0174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000420353.2:c.454C>T	p.Arg152Cys	p.R152C	ENST00000420353	NM_006856.2	152	Cgt/Tgt	0			1			A	R/C	uc001sdy.2	protein_coding					487/1485									ovary(1)|lung(1)	2	c.(487-489)CGT>TGT			PIRSF_domain:PIRSF003153,hmmpanther:PTHR19304	activating transcription factor 7 isoform 1				ENSP00000449938		13-Jun									COSM3398855,COSM3398854	13-Jun	.		ENST00000548446	Transcript			interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000170653	g.chr12:53928392G>A	792			MODERATE		1.895	low	getma.org/?cm=msa&ty=f&p=ATF7_HUMAN&rb=1&re=200&var=R163C	NA	getma.org/?cm=var&var=hg19,12,53928392,G,A&fts=all	R163C	--	--	1																																		ATF7_uc010sok.1_RNA|ATF7_uc001sdz.2_Missense_Mutation_p.R152C|ATF7_uc010sol.1_Missense_Mutation_p.R131C	1,1			possibly_damaging(0.858)	p.R163C	NM_001130059	NP_001123531		deleterious(0.01)	1,1	ATF7_HUMAN	ATF7	HGNC	P17544	ATF7_HUMAN			K7ESA4_HUMAN,K7EKZ7_HUMAN,F8VWG7_HUMAN		5	508	-			UPI0000126230	163			Transactivation domain.		SNV	ATF7,missense_variant,p.Arg152Cys,ENST00000420353,NM_006856.2;ATF7,missense_variant,p.Arg131Cys,ENST00000415113,NM_001130060.1;ATF7,missense_variant,p.Arg163Cys,ENST00000328463,;ATF7,missense_variant,p.Arg152Cys,ENST00000456903,;ATF7,missense_variant,p.Arg163Cys,ENST00000548446,;RP11-793H13.10,missense_variant,p.Arg152Cys,ENST00000591834,;ATF7,missense_variant,p.Arg163Cys,ENST00000588078,;ATF7,missense_variant,p.Arg57Cys,ENST00000588232,;ATF7,missense_variant,p.Arg57Cys,ENST00000551480,;	uc001sdy.2	c.487C>T	600/1892	1	1			c.487C>T						12	SNP	c.(487-489)CGT>TGT	52	52			ovary(1)|lung(1)	2	Broad	activating transcription factor 7 isoform 1			53928392		0.512	ENSG00000170653	1062	g.chr12:53928392G>A	interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							-31.628683	KEEP	2	2	-1	94	73	2	2	-1	6.382125	94	73	0.026144	1	0	0	0	0	1	0	0	0	--	--		0	A			ATF7_uc010sok.1_RNA|ATF7_uc001sdz.2_Missense_Mutation_p.R152C|ATF7_uc010sol.1_Missense_Mutation_p.R131C	37	GBM-06-0174-TP	p.R163C	G	GAGCCAGGACGTACAATGGTG	NM_001130059	NP_001123531	53928392	P17544	ATF7_HUMAN	0			5	508	-	A	A			Missense_Mutation	163			Transactivation domain.			
ATF7IP	0	broad.mit.edu	GRCh37	12	14599967	14599967	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-12-0688-01	TCGA-12-0688-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261168.4:c.1975G>T	p.Asp659Tyr	p.D659Y	ENST00000261168	NM_018179.3	659	Gat/Tat	0			1			T	D/Y	uc001rbw.2	protein_coding	YES	CCDS8663.1			1975/3813									lung(3)|ovary(1)|skin(1)	5	c.(1975-1977)GAT>TAT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23210:SF20,hmmpanther:PTHR23210	activating transcription factor 7 interacting				ENSP00000261168		15-Jun									COSM2153895,COSM3398567	15-Jun	.		ENST00000261168	Transcript			DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	ENSG00000171681	g.chr12:14599967G>T	20092			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=MCAF1_HUMAN&rb=1&re=1160&var=D659Y	NA	getma.org/?cm=var&var=hg19,12,14599967,G,T&fts=all	D659Y	--	--	1																																		ATF7IP_uc010shs.1_Missense_Mutation_p.D658Y|ATF7IP_uc001rbu.2_Missense_Mutation_p.D659Y|ATF7IP_uc001rbv.1_Missense_Mutation_p.D658Y|ATF7IP_uc001rbx.2_Missense_Mutation_p.D658Y|ATF7IP_uc010sht.1_Missense_Mutation_p.D659Y|ATF7IP_uc001rby.3_Missense_Mutation_p.D659Y|ATF7IP_uc001rca.2_Missense_Mutation_p.D659Y	1,1	1		probably_damaging(0.934)	p.D659Y	NM_018179	NP_060649		deleterious_low_confidence(0)	1,1	MCAF1_HUMAN	ATF7IP	HGNC	Q6VMQ6	MCAF1_HUMAN			F8WE35_HUMAN,F5H8I0_HUMAN,F5H6X8_HUMAN,F5H502_HUMAN,F5H3C4_HUMAN,F5H2W9_HUMAN,F5H2H9_HUMAN,F5H221_HUMAN,F5H1K9_HUMAN,F5GZ98_HUMAN,F5GZ10_HUMAN,F5GYR7_HUMAN,A8MV73_HUMAN		6	2133	+			UPI00001FB6B1	659			Interaction with SETDB1.|Potential.		SNV	ATF7IP,missense_variant,p.Asp667Tyr,ENST00000544627,NM_181352.1;ATF7IP,missense_variant,p.Asp659Tyr,ENST00000261168,NM_018179.3;ATF7IP,missense_variant,p.Asp658Tyr,ENST00000536444,NM_001286514.1;ATF7IP,missense_variant,p.Asp658Tyr,ENST00000543189,NM_001286515.1;ATF7IP,missense_variant,p.Asp659Tyr,ENST00000540793,;ATF7IP,downstream_gene_variant,,ENST00000538511,;ATF7IP,non_coding_transcript_exon_variant,,ENST00000541654,;ATF7IP,non_coding_transcript_exon_variant,,ENST00000539659,;ATF7IP,non_coding_transcript_exon_variant,,ENST00000537653,;	uc001rbw.2	c.1975G>T	2128/4656	2	2			c.1975G>T						12	SNP	c.(1975-1977)GAT>TAT	32	32			lung(3)|ovary(1)|skin(1)	5	Broad	activating transcription factor 7 interacting			14599967		0.308	ENSG00000171681	1063	g.chr12:14599967G>T	DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding							63.510063	KEEP	13	16	0.448275862	23	17	13	16	0.448275862	64.319253	23	17	0.377049	1	0	0	0	0	1	0	0	0	--	--		0	T			ATF7IP_uc010shs.1_Missense_Mutation_p.D658Y|ATF7IP_uc001rbu.2_Missense_Mutation_p.D659Y|ATF7IP_uc001rbv.1_Missense_Mutation_p.D658Y|ATF7IP_uc001rbx.2_Missense_Mutation_p.D658Y|ATF7IP_uc010sht.1_Missense_Mutation_p.D659Y|ATF7IP_uc001rby.3_Missense_Mutation_p.D659Y|ATF7IP_uc001rca.2_Missense_Mutation_p.D659Y	121	GBM-12-0688-TP	p.D659Y	G	AGCCAAAGAAGATCTTAAGAA	NM_018179	NP_060649	14599967	Q6VMQ6	MCAF1_HUMAN	0			6	2133	+	T	T			Missense_Mutation	659			Interaction with SETDB1.|Potential.			
ATF7IP	0	broad.mit.edu	GRCh37	12	14650695	14650695	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-5135-01	TCGA-26-5135-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261168.4:c.3501G>A	p.Lys1167=	p.K1167=	ENST00000261168	NM_018179.3	1167	aaG/aaA	0			1			A	K	uc001rbw.2	protein_coding	YES	CCDS8663.1			3501/3813									lung(3)|ovary(1)|skin(1)	5	c.(3499-3501)AAG>AAA			PROSITE_profiles:PS50853,hmmpanther:PTHR23210:SF20,hmmpanther:PTHR23210,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	activating transcription factor 7 interacting				ENSP00000261168		15/15									COSM2157050	15/15	.		ENST00000261168	Transcript			DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	ENSG00000171681	g.chr12:14650695G>A	20092			LOW								--	--	1																																		ATF7IP_uc001rbx.2_Silent_p.K1166K|ATF7IP_uc001rby.3_Silent_p.K1167K|ATF7IP_uc001rca.2_Silent_p.K1167K	1	1			p.K1167K	NM_018179	NP_060649			1	MCAF1_HUMAN	ATF7IP	HGNC	Q6VMQ6	MCAF1_HUMAN			F8WE35_HUMAN,F5H8I0_HUMAN,F5H6X8_HUMAN,F5H502_HUMAN,F5H3C4_HUMAN,F5H2W9_HUMAN,F5H2H9_HUMAN,F5H221_HUMAN,F5H1K9_HUMAN,F5GZ98_HUMAN,F5GZ10_HUMAN,F5GYR7_HUMAN,A8MV73_HUMAN		15	3659	+			UPI00001FB6B1	1167			Interaction with MBD1.|Fibronectin type-III.		SNV	ATF7IP,synonymous_variant,p.=,ENST00000544627,NM_181352.1;ATF7IP,synonymous_variant,p.=,ENST00000261168,NM_018179.3;ATF7IP,synonymous_variant,p.=,ENST00000536444,NM_001286514.1;ATF7IP,synonymous_variant,p.=,ENST00000540793,;	uc001rbw.2	c.3501G>A	3654/4656	1	1			c.3501G>A						12	SNP	c.(3499-3501)AAG>AAA	64	64			lung(3)|ovary(1)|skin(1)	5	Broad	activating transcription factor 7 interacting			14650695		0.547	ENSG00000171681	1063	g.chr12:14650695G>A	DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding							93.197211	KEEP	16	29	-1	34	39	16	29	-1	95.004958	34	39	0.348315	1	0	0	0	0	0	0	1	0	--	--		0	A			ATF7IP_uc001rbx.2_Silent_p.K1166K|ATF7IP_uc001rby.3_Silent_p.K1167K|ATF7IP_uc001rca.2_Silent_p.K1167K	184	GBM-26-5135-TP	p.K1167K	G	CACACTTGAAGTTAGCACGCG	NM_018179	NP_060649	14650695	Q6VMQ6	MCAF1_HUMAN	0			15	3659	+	A	A			Silent	1167			Interaction with MBD1.|Fibronectin type-III.			
ATF7IP2	80063	broad.mit.edu	GRCh37	16	10524503	10524503	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01	TCGA-06-0166-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396560.2:c.26G>A	p.Arg9Gln	p.R9Q	ENST00000396560	NM_024997.3	9	cGg/cAg	0			1			A	R/Q	uc002czu.2	protein_coding		CCDS10540.1			26/2049										0	c.(25-27)CGG>CAG			hmmpanther:PTHR23210,hmmpanther:PTHR23210:SF6	activating transcription factor 7 interacting				ENSP00000348799		10-Jan	2.47E-05					3.12E-05		6.25E-05	rs773088201,COSM2150193	10-Jan	.		ENST00000356427	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		ENSG00000166669	g.chr16:10524503G>A	20397			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=MCAF2_HUMAN&rb=1&re=568&var=R9Q	NA	getma.org/?cm=var&var=hg19,16,10524503,G,A&fts=all	R9Q	--	--	1																																		ATF7IP2_uc002czv.2_Missense_Mutation_p.R9Q|ATF7IP2_uc010uyo.1_RNA|ATF7IP2_uc010uyp.1_Intron|ATF7IP2_uc002czw.2_Missense_Mutation_p.R9Q|ATF7IP2_uc010uyq.1_RNA	0,1			benign(0.33)	p.R9Q	NM_024997	NP_079273		tolerated(0.28)	0,1	MCAF2_HUMAN	ATF7IP2	HGNC	Q5U623	MCAF2_HUMAN			H3BUP1_HUMAN,H3BR07_HUMAN,H3BPC9_HUMAN,H3BNE6_HUMAN,B4DKH3_HUMAN		3	253	+			UPI00001FEDD8	9					SNV	ATF7IP2,missense_variant,p.Arg9Gln,ENST00000396560,NM_024997.3;ATF7IP2,missense_variant,p.Arg9Gln,ENST00000396559,NM_001256160.1;ATF7IP2,missense_variant,p.Arg9Gln,ENST00000356427,;ATF7IP2,missense_variant,p.Arg9Gln,ENST00000324570,;ATF7IP2,missense_variant,p.Arg9Gln,ENST00000562527,;ATF7IP2,missense_variant,p.Arg9Gln,ENST00000569939,;ATF7IP2,missense_variant,p.Arg9Gln,ENST00000569900,;ATF7IP2,missense_variant,p.Arg9Gln,ENST00000562102,;ATF7IP2,intron_variant,,ENST00000543967,;ATF7IP2,downstream_gene_variant,,ENST00000561932,;ATF7IP2,missense_variant,p.Arg9Gln,ENST00000568027,;ATF7IP2,missense_variant,p.Arg9Gln,ENST00000535850,;	uc002czu.2	c.26G>A	52/3463	1	1			c.26G>A						16	SNP	c.(25-27)CGG>CAG	57	57				0	Broad	activating transcription factor 7 interacting			10524503		0.348	ENSG00000166669	1064	g.chr16:10524503G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus								48.525012	KEEP	9	11	-1	29	17	9	11	-1	50.967487	29	17	0.290323	1	0	0	0	0	1	0	0	0	--	--		0	A			ATF7IP2_uc002czv.2_Missense_Mutation_p.R9Q|ATF7IP2_uc010uyo.1_RNA|ATF7IP2_uc010uyp.1_Intron|ATF7IP2_uc002czw.2_Missense_Mutation_p.R9Q|ATF7IP2_uc010uyq.1_RNA	31	GBM-06-0166-TP	p.R9Q	G	AGAAGTAAACGGAAGATATTA	NM_024997	NP_079273	10524503	Q5U623	MCAF2_HUMAN	0			3	253	+	A	A			Missense_Mutation	9						
ATF7IP2	0	broad.mit.edu	GRCh37	16	10524533	10524533	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01	TCGA-19-2631-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356427.2:c.56C>T	p.Pro19Leu	p.P19L	ENST00000356427		19	cCc/cTc	0			1			T	P/L	uc002czu.2	protein_coding		CCDS10540.1			56/2049										0	c.(55-57)CCC>CTC			hmmpanther:PTHR23210,hmmpanther:PTHR23210:SF6	activating transcription factor 7 interacting				ENSP00000348799		10-Jan	8.24E-06					1.51E-05			rs767221101,COSM3402049	10-Jan	.		ENST00000356427	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		ENSG00000166669	g.chr16:10524533C>T	20397			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=MCAF2_HUMAN&rb=1&re=568&var=P19L	NA	getma.org/?cm=var&var=hg19,16,10524533,C,T&fts=all	P19L	--	--	1																																		ATF7IP2_uc002czv.2_Missense_Mutation_p.P19L|ATF7IP2_uc010uyo.1_RNA|ATF7IP2_uc010uyp.1_Intron|ATF7IP2_uc002czw.2_Missense_Mutation_p.P19L|ATF7IP2_uc010uyq.1_RNA	0,1			probably_damaging(1)	p.P19L	NM_024997	NP_079273		deleterious(0)	0,1	MCAF2_HUMAN	ATF7IP2	HGNC	Q5U623	MCAF2_HUMAN			H3BUP1_HUMAN,H3BR07_HUMAN,H3BPC9_HUMAN,H3BNE6_HUMAN,B4DKH3_HUMAN		3	283	+			UPI00001FEDD8	19					SNV	ATF7IP2,missense_variant,p.Pro19Leu,ENST00000396560,NM_024997.3;ATF7IP2,missense_variant,p.Pro19Leu,ENST00000396559,NM_001256160.1;ATF7IP2,missense_variant,p.Pro19Leu,ENST00000356427,;ATF7IP2,missense_variant,p.Pro19Leu,ENST00000324570,;ATF7IP2,missense_variant,p.Pro19Leu,ENST00000569939,;ATF7IP2,missense_variant,p.Pro19Leu,ENST00000569900,;ATF7IP2,missense_variant,p.Pro19Leu,ENST00000562102,;ATF7IP2,intron_variant,,ENST00000543967,;ATF7IP2,downstream_gene_variant,,ENST00000562527,;ATF7IP2,downstream_gene_variant,,ENST00000561932,;ATF7IP2,missense_variant,p.Pro19Leu,ENST00000568027,;ATF7IP2,missense_variant,p.Pro19Leu,ENST00000535850,;	uc002czu.2	c.56C>T	82/3463	1	1			c.56C>T						16	SNP	c.(55-57)CCC>CTC	7	7				0	Broad	activating transcription factor 7 interacting			10524533		0.383	ENSG00000166669	1064	g.chr16:10524533C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus								-25.680284	KEEP	2	2	-1	61	86	2	2	-1	6.370286	61	86	0.023622	1	0	0	0	0	1	0	0	0	--	--		0	T			ATF7IP2_uc002czv.2_Missense_Mutation_p.P19L|ATF7IP2_uc010uyo.1_RNA|ATF7IP2_uc010uyp.1_Intron|ATF7IP2_uc002czw.2_Missense_Mutation_p.P19L|ATF7IP2_uc010uyq.1_RNA	167	GBM-19-2631-TP	p.P19L	C	AAGACAATGCCCCTAAGTTGC	NM_024997	NP_079273	10524533	Q5U623	MCAF2_HUMAN	0			3	283	+	T	T			Missense_Mutation	19						
ATF7IP2	80063		GRCh37	16	10527480	10527480	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000396560.2:c.934G>C	p.Glu312Gln	p.E312Q	ENST00000396560	NM_024997.3	312	Gaa/Caa	0																																																																																																																																																																																																																																												
ATG12	0	broad.mit.edu	GRCh37	5	115177234	115177234	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6193-01	TCGA-76-6193-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000509910.1:c.16C>T	p.Gln6Ter	p.Q6*	ENST00000509910		6	Cag/Tag	0			1			A	Q/*	uc003krh.2	protein_coding	YES	CCDS4122.2			16/423										0	c.(157-159)CAG>TAG			hmmpanther:PTHR13385	APG12 autophagy 12-like				ENSP00000425107		4-Jan									COSM3409670	4-Jan	.		ENST00000509910	Transcript			autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding	ENSG00000145782	g.chr5:115177234G>A	588			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,5,115177234,G,A&fts=all	Q6*	--	--	1																																		AP3S1_uc003krl.2_5'Flank|AP3S1_uc003krk.2_5'Flank|AP3S1_uc003krm.2_5'Flank|ATG12_uc003kri.2_Nonsense_Mutation_p.Q53*|ATG12_uc003krj.2_RNA	1	1			p.Q53*	NM_004707	NP_004698			1	ATG12_HUMAN	ATG12	HGNC	O94817	ATG12_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)			1	266	-		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	UPI0000125C66	6					SNV	ATG12,stop_gained,p.Gln6Ter,ENST00000509910,;ATG12,stop_gained,p.Gln53Ter,ENST00000274459,NM_004707.3;ATG12,stop_gained,p.Gln6Ter,ENST00000500945,NM_001277783.1;AP3S1,5_prime_UTR_variant,,ENST00000316788,NM_001284.2;ATG12,non_coding_transcript_exon_variant,,ENST00000514775,;ATG12,upstream_gene_variant,,ENST00000509598,;AP3S1,upstream_gene_variant,,ENST00000514118,;ATG12,stop_gained,p.Gln6Ter,ENST00000513322,;ATG12,stop_gained,p.Gln6Ter,ENST00000379594,;ATG12,stop_gained,p.Gln11Ter,ENST00000505993,;ATG12,stop_gained,p.Gln4Ter,ENST00000513167,;AP3S1,upstream_gene_variant,,ENST00000515066,;ATG12,upstream_gene_variant,,ENST00000508464,;AP3S1,upstream_gene_variant,,ENST00000395548,;AP3S1,upstream_gene_variant,,ENST00000506430,;ATG12,upstream_gene_variant,,ENST00000511984,;AP3S1,upstream_gene_variant,,ENST00000509055,;	uc003krh.2	c.157C>T	322/4333	5	1			c.157C>T						5	SNP	c.(157-159)CAG>TAG	64	64				0	Broad	APG12 autophagy 12-like			115177234		0.607	ENSG00000145782	1066	g.chr5:115177234G>A	autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding							25.22565	KEEP	15	5	-1	55	56	15	5	-1	37.150725	55	56	0.153846	1	0	0	0	0	0	1	0	0	--	--		0	A			AP3S1_uc003krl.2_5'Flank|AP3S1_uc003krk.2_5'Flank|AP3S1_uc003krm.2_5'Flank|ATG12_uc003kri.2_Nonsense_Mutation_p.Q53*|ATG12_uc003krj.2_RNA	276	GBM-76-6193-TP	p.Q53*	G	AACACAGACTGCGGCTCCTCC	NM_004707	NP_004698	115177234	O94817	ATG12_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)	1	266	-	A	A		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	Nonsense_Mutation	6						
ATG12	9140		GRCh37	5	115177086	115177087	+	frameshift_variant,splice_region_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000509910.1:c.163dup	p.Ile55AsnfsTer2	p.I55Nfs*2	ENST00000509910		55	att/aAtt	0																																																																																																																																																																																																																																												
ATG16L2	89849	broad.mit.edu	GRCh37	11	72528883	72528883	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321297.5:c.301C>T	p.Arg101Trp	p.R101W	ENST00000321297	NM_033388.1	101	Cgg/Tgg	0		T:0	1	T:0		T	R/W	uc001otd.2	protein_coding	YES	CCDS31634.1			301/1860										0	c.(301-303)CGG>TGG			hmmpanther:PTHR19878:SF2,hmmpanther:PTHR19878,Pfam_domain:PF08614	ATG16 autophagy related 16-like 2		T:0.001		ENSP00000326340	T:0	18-Mar	1.65E-05			0.000123		1.59E-05			rs532590002,COSM3398120	18-Mar	.		ENST00000321297	Transcript		T:0.0002	autophagy|protein transport	cytoplasm	protein binding	ENSG00000168010	g.chr11:72528883C>T	25464			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=A16L2_HUMAN&rb=14&re=208&var=R101W	NA	getma.org/?cm=var&var=hg19,11,72528883,C,T&fts=all	R101W	--	--	1																																		ATG16L2_uc001otc.1_Missense_Mutation_p.R101W|ATG16L2_uc010rrf.1_Missense_Mutation_p.R101W|ATG16L2_uc001ote.2_5'UTR|ATG16L2_uc009ytj.1_Missense_Mutation_p.R101W	0,1	1		possibly_damaging(0.79)	p.R101W	NM_033388	NP_203746	T:0	deleterious(0)	0,1	A16L2_HUMAN	ATG16L2	HGNC	Q8NAA4	A16L2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.73e-06)		F5H7B6_HUMAN		3	341	+			UPI0000140B06	101					SNV	ATG16L2,missense_variant,p.Arg101Trp,ENST00000321297,NM_033388.1;ATG16L2,missense_variant,p.Arg101Trp,ENST00000534905,;ATG16L2,missense_variant,p.Arg106Trp,ENST00000540567,;ATG16L2,upstream_gene_variant,,ENST00000541367,;ATG16L2,upstream_gene_variant,,ENST00000538973,;ATG16L2,upstream_gene_variant,,ENST00000540222,;ATG16L2,upstream_gene_variant,,ENST00000535830,;ATG16L2,upstream_gene_variant,,ENST00000541554,;ATG16L2,non_coding_transcript_exon_variant,,ENST00000538842,;ATG16L2,downstream_gene_variant,,ENST00000451353,;ATG16L2,missense_variant,p.Arg101Trp,ENST00000544490,;ATG16L2,missense_variant,p.Arg101Trp,ENST00000435507,;ATG16L2,non_coding_transcript_exon_variant,,ENST00000439504,;ATG16L2,non_coding_transcript_exon_variant,,ENST00000542908,;ATG16L2,non_coding_transcript_exon_variant,,ENST00000537143,;ATG16L2,upstream_gene_variant,,ENST00000536995,;ATG16L2,upstream_gene_variant,,ENST00000537212,;ATG16L2,upstream_gene_variant,,ENST00000537837,;ATG16L2,upstream_gene_variant,,ENST00000545248,;ATG16L2,upstream_gene_variant,,ENST00000541999,;	uc001otd.2	c.301C>T	439/2243	1	1			c.301C>T						11	SNP	c.(301-303)CGG>TGG	7	7				0	Broad	ATG16 autophagy related 16-like 2			72528883		0.577	ENSG00000168010	1068	g.chr11:72528883C>T	autophagy|protein transport	cytoplasm	protein binding							136.159302	KEEP	18	26	-1	6	2	18	26	-1	142.048563	6	2	0.866667	1	0	0	0	0	1	0	0	0	--	--		0	T			ATG16L2_uc001otc.1_Missense_Mutation_p.R101W|ATG16L2_uc010rrf.1_Missense_Mutation_p.R101W|ATG16L2_uc001ote.2_5'UTR|ATG16L2_uc009ytj.1_Missense_Mutation_p.R101W	102	GBM-06-5858-TP	p.R101W	C	GGAGGGGCTCCGGCTGGTCTG	NM_033388	NP_203746	72528883	Q8NAA4	A16L2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(5;2.73e-06)		3	341	+	T	T			Missense_Mutation	101						
ATG2A	23130	broad.mit.edu	GRCh37	11	64663974	64663974	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0169-01	TCGA-06-0169-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377264.3:c.5387C>T	p.Ala1796Val	p.A1796V	ENST00000377264	NM_015104.2	1796	gCc/gTc	0			1			A	A/V	uc001obx.2	protein_coding	YES	CCDS31602.1			5387/5817									ovary(1)|central_nervous_system(1)	2	c.(5386-5388)GCC>GTC			hmmpanther:PTHR13190,hmmpanther:PTHR13190:SF18,Low_complexity_(Seg):seg	autophagy related 2A				ENSP00000366475		39/41									COSM3398031	39/41	.		ENST00000377264	Transcript					protein binding	ENSG00000110046	g.chr11:64663974G>A	29028			MODERATE		2.865	medium	getma.org/?cm=msa&ty=f&p=ATG2A_HUMAN&rb=1732&re=1834&var=A1796V	NA	getma.org/?cm=var&var=hg19,11,64663974,G,A&fts=all	A1796V	--	--	1																																OREG0004026	type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	ATG2A_uc001obw.2_Missense_Mutation_p.A561V	1	1		probably_damaging(0.998)	p.A1796V	NM_015104	NP_055919		deleterious(0)	1	ATG2A_HUMAN	ATG2A	HGNC	Q2TAZ0	ATG2A_HUMAN			B4DV45_HUMAN		39	5502	-			UPI00001C1F21	1796					SNV	ATG2A,missense_variant,p.Ala1798Val,ENST00000421419,;ATG2A,missense_variant,p.Ala1796Val,ENST00000377264,NM_015104.2;ATG2A,missense_variant,p.Ala1600Val,ENST00000418259,;MIR194-2,upstream_gene_variant,,ENST00000413053,;ATG2A,downstream_gene_variant,,ENST00000472525,;	uc001obx.2	c.5387C>T	5500/6357	1	1			c.5387C>T						11	SNP	c.(5386-5388)GCC>GTC	51	51			ovary(1)|central_nervous_system(1)	2	Broad	autophagy related 2A			64663974		0.637	ENSG00000110046	1069	g.chr11:64663974G>A			protein binding							2.503505	KEEP	3	0	-1	21	21	3	0	-1	7.297418	21	21	0.1	1	0	0	0	0	1	0	0	0	--	--		0	A	OREG0004026	type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	ATG2A_uc001obw.2_Missense_Mutation_p.A561V	34	GBM-06-0169-TP	p.A1796V	G	TTCCAGGGCGGCAGAGGCTGT	NM_015104	NP_055919	64663974	Q2TAZ0	ATG2A_HUMAN	0			39	5502	-	A	A			Missense_Mutation	1796						
ATG2B	0	broad.mit.edu	GRCh37	14	96779478	96779478	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-26-6174-01	TCGA-26-6174-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359933.4:c.3766A>G	p.Ile1256Val	p.I1256V	ENST00000359933	NM_018036.5	1256	Atc/Gtc	0			1			C	I/V	uc001yfi.2	protein_coding	YES	CCDS9944.2			3766/6237									ovary(1)|kidney(1)|skin(1)	3	c.(3766-3768)ATC>GTC			hmmpanther:PTHR13190:SF19,hmmpanther:PTHR13190	ATG2 autophagy related 2 homolog B				ENSP00000353010		25/42									COSM3401567	25/42	.		ENST00000359933	Transcript						ENSG00000066739	g.chr14:96779478T>C	20187			MODERATE		-0.6	neutral	getma.org/?cm=msa&ty=f&p=ATG2B_HUMAN&rb=1239&re=1376&var=I1256V	NA	getma.org/?cm=var&var=hg19,14,96779478,T,C&fts=all	I1256V	--	--	1																																			1	1		benign(0.001)	p.I1256V	NM_018036	NP_060506		tolerated(1)	1	ATG2B_HUMAN	ATG2B	HGNC	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)			25	4131	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	UPI000155D51F	1256					SNV	ATG2B,missense_variant,p.Ile1256Val,ENST00000359933,NM_018036.5;ATG2B,upstream_gene_variant,,ENST00000261834,;ATG2B,downstream_gene_variant,,ENST00000473234,;ATG2B,downstream_gene_variant,,ENST00000488421,;	uc001yfi.2	c.3766A>G	4660/11628	3	3			c.3766A>G						14	SNP	c.(3766-3768)ATC>GTC	53	53			ovary(1)|kidney(1)|skin(1)	3	Broad	ATG2 autophagy related 2 homolog B			96779478		0.348	ENSG00000066739	1070	g.chr14:96779478T>C										47.3343	KEEP	2	15	-1	39	43	2	15	-1	54.442333	39	43	0.2	1	0	0	0	0	1	0	0	0	--	--		0	C				188	GBM-26-6174-TP	p.I1256V	T	AGAGATCGGATTGGCAAATAA	NM_018036	NP_060506	96779478	Q96BY7	ATG2B_HUMAN	0		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	25	4131	-	C	C		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	Missense_Mutation	1256						
ATG2B	55102		GRCh37	14	96752258	96752258	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000359933.4:c.6071T>G	p.Val2024Gly	p.V2024G	ENST00000359933	NM_018036.5	2024	gTg/gGg	0																																																																																																																																																																																																																																												
ATG4D	84971	broad.mit.edu	GRCh37	19	10659590	10659590	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2567-01	TCGA-06-2567-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309469.4:c.846G>A	p.Ala282=	p.A282=	ENST00000309469	NM_032885.5	282	gcG/gcA	0			1			A	A	uc002mov.2	protein_coding	YES	CCDS12241.1			846/1425										0	c.(844-846)GCG>GCA			hmmpanther:PTHR22624,hmmpanther:PTHR22624:SF36,Pfam_domain:PF03416,Superfamily_domains:SSF54001	APG4 autophagy 4 homolog D				ENSP00000311318		10-Jun	9.88E-05		0.000864			3.00E-05			rs531176373,COSM2153040	10-Jun	common_variant		ENST00000309469	Transcript			autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	ENSG00000130734	g.chr19:10659590G>A	20789			LOW								--	--	1																																		ATG4D_uc010xlh.1_Silent_p.A219A|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_RNA|ATG4D_uc010dxj.2_Intron	0,1	1			p.A282A	NM_032885	NP_116274			0,1	ATG4D_HUMAN	ATG4D	HGNC	Q86TL0	ATG4D_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		Q969K0_HUMAN,K7EKP6_HUMAN		6	966	+			UPI000000DCA0	282					SNV	ATG4D,synonymous_variant,p.=,ENST00000309469,NM_032885.5,NM_001281504.1;ATG4D,synonymous_variant,p.=,ENST00000587256,;ATG4D,synonymous_variant,p.=,ENST00000586863,;ATG4D,intron_variant,,ENST00000540862,;KRI1,downstream_gene_variant,,ENST00000312962,NM_023008.3;KRI1,downstream_gene_variant,,ENST00000361821,;ATG4D,upstream_gene_variant,,ENST00000588972,;ATG4D,downstream_gene_variant,,ENST00000586477,;ATG4D,upstream_gene_variant,,ENST00000585437,;MIR1238,upstream_gene_variant,,ENST00000408483,;RNU7-140P,downstream_gene_variant,,ENST00000459546,;ATG4D,missense_variant,p.Arg190Gln,ENST00000588667,;ATG4D,missense_variant,p.Gly268Arg,ENST00000588857,;ATG4D,3_prime_UTR_variant,,ENST00000586417,;ATG4D,non_coding_transcript_exon_variant,,ENST00000590096,;ATG4D,intron_variant,,ENST00000589753,;ATG4D,intron_variant,,ENST00000585752,;KRI1,downstream_gene_variant,,ENST00000536689,;KRI1,downstream_gene_variant,,ENST00000478863,;KRI1,downstream_gene_variant,,ENST00000537363,;	uc002mov.2	c.846G>A	1019/1949	1	1			c.846G>A						19	SNP	c.(844-846)GCG>GCA	54	54				0	Broad	APG4 autophagy 4 homolog D			10659590		0.647	ENSG00000130734	1074	g.chr19:10659590G>A	autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity							107.162806	KEEP	23	17	-1	25	30	23	17	-1	107.697205	25	30	0.4125	1	0	0	0	0	0	0	1	0	--	--		0	A			ATG4D_uc010xlh.1_Silent_p.A219A|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_RNA|ATG4D_uc010dxj.2_Intron	89	GBM-06-2567-TP	p.A282A	G	TGTACAAGGCGGATGTGGCAC	NM_032885	NP_116274	10659590	Q86TL0	ATG4D_HUMAN	0	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		6	966	+	A	A			Silent	282						
ATG4D	84971	broad.mit.edu	GRCh37	19	10657548	10657548	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5414-01	TCGA-06-5414-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309469.4:c.527C>T	p.Pro176Leu	p.P176L	ENST00000309469	NM_032885.5	176	cCc/cTc	0			1			T	P/L	uc002mov.2	protein_coding	YES	CCDS12241.1			527/1425										0	c.(526-528)CCC>CTC			hmmpanther:PTHR22624,hmmpanther:PTHR22624:SF36,Pfam_domain:PF03416	APG4 autophagy 4 homolog D				ENSP00000311318		10-Apr									COSM3403724	10-Apr	.		ENST00000309469	Transcript			autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	ENSG00000130734	g.chr19:10657548C>T	20789			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=ATG4D_HUMAN&rb=106&re=413&var=P176L	getma.org/pdb.php?prot=ATG4D_HUMAN&from=106&to=413&var=P176L	getma.org/?cm=var&var=hg19,19,10657548,C,T&fts=all	P176L	--	--	1																																		ATG4D_uc010xlg.1_Missense_Mutation_p.P199L|ATG4D_uc010xlh.1_Missense_Mutation_p.P113L|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_Intron|ATG4D_uc010dxj.2_Intron	1	1		benign(0.243)	p.P176L	NM_032885	NP_116274		tolerated(0.14)	1	ATG4D_HUMAN	ATG4D	HGNC	Q86TL0	ATG4D_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		Q969K0_HUMAN,K7EKP6_HUMAN		4	647	+			UPI000000DCA0	176					SNV	ATG4D,missense_variant,p.Pro176Leu,ENST00000309469,NM_032885.5,NM_001281504.1;ATG4D,missense_variant,p.Pro142Leu,ENST00000586477,;ATG4D,missense_variant,p.Pro16Leu,ENST00000587256,;ATG4D,intron_variant,,ENST00000540862,;ATG4D,intron_variant,,ENST00000586863,;ATG4D,upstream_gene_variant,,ENST00000588972,;RNU7-140P,downstream_gene_variant,,ENST00000459546,;ATG4D,missense_variant,p.Pro176Leu,ENST00000588857,;ATG4D,3_prime_UTR_variant,,ENST00000586417,;ATG4D,non_coding_transcript_exon_variant,,ENST00000590096,;ATG4D,intron_variant,,ENST00000588667,;ATG4D,intron_variant,,ENST00000589753,;ATG4D,intron_variant,,ENST00000585752,;	uc002mov.2	c.527C>T	700/1949	2	2			c.527C>T						19	SNP	c.(526-528)CCC>CTC	43	43				0	Broad	APG4 autophagy 4 homolog D			10657548		0.657	ENSG00000130734	1074	g.chr19:10657548C>T	autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity							27.975255	KEEP	6	6	-1	21	24	6	6	-1	31.428214	21	24	0.230769	1	0	0	0	0	1	0	0	0	--	--		0	T			ATG4D_uc010xlg.1_Missense_Mutation_p.P199L|ATG4D_uc010xlh.1_Missense_Mutation_p.P113L|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_Intron|ATG4D_uc010dxj.2_Intron	97	GBM-06-5414-TP	p.P176L	C	GGCCTGGGCCCCCCTGAGCTG	NM_032885	NP_116274	10657548	Q86TL0	ATG4D_HUMAN	0	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		4	647	+	T	T			Missense_Mutation	176						
ATG7	10533		GRCh37	3	11400061	11400061	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000354449.3:c.1454C>T	p.Ala485Val	p.A485V	ENST00000354449	NM_006395.2	485	gCc/gTc	0																																																																																																																																																																																																																																												
ATHL1	0	broad.mit.edu	GRCh37	11	294169	294169	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409548.2:c.1781C>T	p.Ala594Val	p.A594V	ENST00000409548	NM_025092.4	594	gCg/gTg	0			1			T	A/V	uc010qvu.1	protein_coding	YES	CCDS31322.2			1781/2214									liver(1)|central_nervous_system(1)|skin(1)	3	c.(1780-1782)GCG>GTG			Gene3D:1.50.10.10,Pfam_domain:PF03632,hmmpanther:PTHR11051,hmmpanther:PTHR11051:SF10,Superfamily_domains:SSF48208	ATH1, acid trehalase-like 1				ENSP00000387185		14-Dec	2.47E-05					1.53E-05		0.000136	rs777823440,COSM2113687,COSM2113686	14-Dec	.		ENST00000409548	Transcript			carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds	ENSG00000142102	g.chr11:294169C>T	26210			MODERATE		1.71	low	getma.org/?cm=msa&ty=f&p=ATHL1_HUMAN&rb=257&re=609&var=A594V	getma.org/pdb.php?prot=ATHL1_HUMAN&from=257&to=609&var=A594V	getma.org/?cm=var&var=hg19,11,294169,C,T&fts=all	A594V	--	--	1																																		ATHL1_uc001lor.3_Missense_Mutation_p.A346V|ATHL1_uc001lou.3_Missense_Mutation_p.A169V|ATHL1_uc001lov.3_Missense_Mutation_p.A55V	0,1,1	1		possibly_damaging(0.788)	p.A594V	NM_025092	NP_079368		deleterious(0.05)	0,1,1	ATHL1_HUMAN	ATHL1	HGNC	Q32M88	ATHL1_HUMAN		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)			12	1896	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	UPI0000EE80CE	594					SNV	ATHL1,missense_variant,p.Ala594Val,ENST00000409548,NM_025092.4;ATHL1,missense_variant,p.Ala621Val,ENST00000409479,;ATHL1,missense_variant,p.Ala346Val,ENST00000409655,;ATHL1,missense_variant,p.Ala73Val,ENST00000397660,;IFITM5,downstream_gene_variant,,ENST00000382614,NM_001025295.2;ATHL1,non_coding_transcript_exon_variant,,ENST00000474221,;ATHL1,non_coding_transcript_exon_variant,,ENST00000476372,;ATHL1,downstream_gene_variant,,ENST00000529087,;ATHL1,downstream_gene_variant,,ENST00000482937,;	uc010qvu.1	c.1781C>T	1896/3687	2	2			c.1781C>T						11	SNP	c.(1780-1782)GCG>GTG	42	42			liver(1)|central_nervous_system(1)|skin(1)	3	Broad	ATH1, acid trehalase-like 1			294169		0.652	ENSG00000142102	1079	g.chr11:294169C>T	carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds							61.102191	KEEP	12	18	-1	26	27	12	18	-1	62.327523	26	27	0.353846	1	0	0	0	0	1	0	0	0	--	--		0	T			ATHL1_uc001lor.3_Missense_Mutation_p.A346V|ATHL1_uc001lou.3_Missense_Mutation_p.A169V|ATHL1_uc001lov.3_Missense_Mutation_p.A55V	230	GBM-32-1979-TP	p.A594V	C	TTCCTGCAGGCGGTGGTCTTC	NM_025092	NP_079368	294169	Q32M88	ATHL1_HUMAN	0		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	12	1896	+	T	T		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	Missense_Mutation	594						
ATL1	51062	broad.mit.edu	GRCh37	14	51080061	51080061	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs119476046		TCGA-06-0137-01	TCGA-06-0137-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358385.6:c.715C>T	p.Arg239Cys	p.R239C	ENST00000358385	NM_015915.4	239	Cgc/Tgc	0			1			T	R/C	uc001wyf.3	protein_coding	YES	CCDS9700.1			715/1677						pathogenic			skin(3)|central_nervous_system(1)	4	c.(715-717)CGC>TGC			Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF52540,Gene3D:3.40.50.300,Pfam_domain:PF02263,hmmpanther:PTHR10751:SF15,hmmpanther:PTHR10751,PROSITE_profiles:PS51715	atlastin GTPase 1 isoform a				ENSP00000351155		14-Jul									rs119476046,COSM2149614	14-Jul	.		ENST00000358385	Transcript	1		axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding	ENSG00000198513	g.chr14:51080061C>T	11231			MODERATE		2.405	medium	getma.org/?cm=msa&ty=f&p=ATLA1_HUMAN&rb=43&re=314&var=R239C	getma.org/pdb.php?prot=ATLA1_HUMAN&from=43&to=314&var=R239C	getma.org/?cm=var&var=hg19,14,51080061,C,T&fts=all	R239C	--	--	1																																		ATL1_uc001wyd.3_Missense_Mutation_p.R239C|ATL1_uc001wye.3_Missense_Mutation_p.R239C	1,1	1		benign(0.38)	p.R239C	NM_015915	NP_056999		deleterious(0)	0,1	ATLA1_HUMAN	ATL1	HGNC	Q8WXF7	ATLA1_HUMAN			G3V5T4_HUMAN,G3V4Y8_HUMAN,G3V334_HUMAN,G3V321_HUMAN		7	956	+			UPI0000073893	239		R -> C (in SPG3; affects endoplasmic reticulum and Golgi morphology).	Cytoplasmic.		SNV	ATL1,missense_variant,p.Arg239Cys,ENST00000441560,NM_001127713.1;ATL1,missense_variant,p.Arg239Cys,ENST00000358385,NM_015915.4;ATL1,missense_variant,p.Arg239Cys,ENST00000357032,;ATL1,missense_variant,p.Arg239Cys,ENST00000354525,NM_181598.3;ATL1,downstream_gene_variant,,ENST00000554886,;ATL1,upstream_gene_variant,,ENST00000555266,;	uc001wyf.3	c.715C>T	956/2647	1	1			c.715C>T						14	SNP	c.(715-717)CGC>TGC	1	1			skin(3)|central_nervous_system(1)	4	Broad	atlastin GTPase 1 isoform a			51080061		0.353	ENSG00000198513	1081	g.chr14:51080061C>T	axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding							94.827615	KEEP	17	15	-1	32	25	17	15	-1	96.185507	32	25	0.364706	1	0	0	0	0	1	0	0	0	--	--		0	T			ATL1_uc001wyd.3_Missense_Mutation_p.R239C|ATL1_uc001wye.3_Missense_Mutation_p.R239C	18	GBM-06-0137-TP	p.R239C	C	CTTGGAAAAACGCCTCAAGGT	NM_015915	NP_056999	51080061	Q8WXF7	ATLA1_HUMAN	0			7	956	+	T	T			Missense_Mutation	239		R -> C (in SPG3; affects endoplasmic reticulum and Golgi morphology).	Cytoplasmic.			
ATL1	0	broad.mit.edu	GRCh37	14	51027003	51027003	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-5213-01	TCGA-28-5213-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358385.6:c.20A>G	p.Asp7Gly	p.D7G	ENST00000358385	NM_015915.4	7	gAc/gGc	0			1			G	D/G	uc001wyf.3	protein_coding	YES	CCDS9700.1			20/1677									skin(3)|central_nervous_system(1)	4	c.(19-21)GAC>GGC			hmmpanther:PTHR10751:SF15,hmmpanther:PTHR10751	atlastin GTPase 1 isoform a				ENSP00000351155		14-Jan	2.47E-05							0.00019	rs759476841,COSM3401334	14-Jan	.		ENST00000358385	Transcript	1		axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding	ENSG00000198513	g.chr14:51027003A>G	11231			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=ATLA1_HUMAN&rb=1&re=42&var=D7G	NA	getma.org/?cm=var&var=hg19,14,51027003,A,G&fts=all	D7G	--	--	1																																		ATL1_uc001wyd.3_Missense_Mutation_p.D7G|ATL1_uc001wye.3_Missense_Mutation_p.D7G	0,1	1		benign(0.047)	p.D7G	NM_015915	NP_056999		deleterious_low_confidence(0.04)	0,1	ATLA1_HUMAN	ATL1	HGNC	Q8WXF7	ATLA1_HUMAN			G3V5T4_HUMAN,G3V4Y8_HUMAN,G3V334_HUMAN,G3V321_HUMAN		1	261	+			UPI0000073893	7			Cytoplasmic.		SNV	ATL1,missense_variant,p.Asp7Gly,ENST00000441560,NM_001127713.1;ATL1,missense_variant,p.Asp7Gly,ENST00000358385,NM_015915.4;ATL1,missense_variant,p.Asp7Gly,ENST00000357032,;ATL1,missense_variant,p.Asp7Gly,ENST00000354525,NM_181598.3;ATL1,missense_variant,p.Asp7Gly,ENST00000555960,;ATL1,missense_variant,p.Asp7Gly,ENST00000553509,;ATL1,5_prime_UTR_variant,,ENST00000554886,;MAP4K5,intron_variant,,ENST00000555216,;ATL1,upstream_gene_variant,,ENST00000557735,;ATL1,non_coding_transcript_exon_variant,,ENST00000556478,;	uc001wyf.3	c.20A>G	261/2647	4	4			c.20A>G						14	SNP	c.(19-21)GAC>GGC	25	25			skin(3)|central_nervous_system(1)	4	Broad	atlastin GTPase 1 isoform a			51027003		0.632	ENSG00000198513	1081	g.chr14:51027003A>G	axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding							0.795611	KEEP	2	2	-1	15	29	2	2	-1	7.939497	15	29	0.076923	1	0	0	0	0	1	0	0	0	--	--		0	G			ATL1_uc001wyd.3_Missense_Mutation_p.D7G|ATL1_uc001wye.3_Missense_Mutation_p.D7G	220	GBM-28-5213-TP	p.D7G	A	AACCGCAGGGACAGAAACAGT	NM_015915	NP_056999	51027003	Q8WXF7	ATLA1_HUMAN	0			1	261	+	G	G			Missense_Mutation	7			Cytoplasmic.			
ATM	0	broad.mit.edu	GRCh37	11	108172455	108172455	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-5950-01	TCGA-19-5950-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278616.4:c.5258A>G	p.Tyr1753Cys	p.Y1753C	ENST00000278616	NM_000051.3	1753	tAt/tGt	0			1			G	Y/C	uc001pkb.1	protein_coding	YES	CCDS31669.1			5258/9171	D|Mis|N|F|S			leukemia|lymphoma|medulloblastoma|glioma	T-PLL				haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240	c.(5257-5259)TAT>TGT		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Superfamily_domains:SSF48371,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF66	ataxia telangiectasia mutated isoform 1				ENSP00000278616		35/63	8.24E-06					1.50E-05			rs777481236,COSM2156585,COSM2156584	35/63	.	Ataxia_Telangiectasia	ENST00000278616	Transcript	1		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	ENSG00000149311	g.chr11:108172455A>G	795			MODERATE		1.265	low	getma.org/?cm=msa&ty=f&p=ATM_HUMAN&rb=1567&re=1766&var=Y1753C	NA	getma.org/?cm=var&var=hg19,11,108172455,A,G&fts=all	Y1753C	--	--	1				TSP Lung(14;0.12)																														ATM_uc009yxr.1_Missense_Mutation_p.Y1753C|ATM_uc001pke.1_Missense_Mutation_p.Y405C|ATM_uc001pkg.1_Missense_Mutation_p.Y110C|ATM_uc009yxt.1_5'Flank	0,1,1	1		benign(0.005)	p.Y1753C	NM_000051	NP_000042		deleterious(0.04)	0,1,1	ATM_HUMAN	ATM	HGNC	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	M0QXY8_HUMAN,E9PRG7_HUMAN,E9PIN0_HUMAN		35	5643	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	UPI0000DBEF44	1753					SNV	ATM,missense_variant,p.Tyr1753Cys,ENST00000278616,NM_000051.3;ATM,missense_variant,p.Tyr1753Cys,ENST00000452508,;ATM,non_coding_transcript_exon_variant,,ENST00000524792,;ATM,non_coding_transcript_exon_variant,,ENST00000533690,;ATM,non_coding_transcript_exon_variant,,ENST00000534625,;ATM,upstream_gene_variant,,ENST00000529588,;	uc001pkb.1	c.5258A>G	5643/13147	3	3			c.5258A>G	D|Mis|N|F|S			leukemia|lymphoma|medulloblastoma|glioma	T-PLL	11	SNP	c.(5257-5259)TAT>TGT	1	1			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240	Broad	ataxia telangiectasia mutated isoform 1	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents		108172455	Ataxia_Telangiectasia	0.343	ENSG00000149311	1084	g.chr11:108172455A>G	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			1073			1073	212.49999	KEEP	23	41	-1	28	33	23	41	-1	212.502316	28	33	0.504425	1	0	0	0	0	1	0	0	0	--	--	TSP Lung(14;0.12)	0	G			ATM_uc009yxr.1_Missense_Mutation_p.Y1753C|ATM_uc001pke.1_Missense_Mutation_p.Y405C|ATM_uc001pkg.1_Missense_Mutation_p.Y110C|ATM_uc009yxt.1_5'Flank	170	GBM-19-5950-TP	p.Y1753C	A	TGGGAGATTTATAAGATGACA	NM_000051	NP_000042	108172455	Q13315	ATM_HUMAN	0		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	35	5643	+	G	G		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	Missense_Mutation	1753						
ATM	0	broad.mit.edu	GRCh37	11	108199882	108199882	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs145747513	byFrequency	TCGA-19-5955-01	TCGA-19-5955-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278616.4:c.7225delG	p.Glu2409AsnfsTer9	p.E2409Nfs*9	ENST00000278616	NM_000051.3	2408	tcG/tc	0			1			-	S/X	uc001pkb.1	protein_coding	YES	CCDS31669.1			7224/9171	D|Mis|N|F|S			leukemia|lymphoma|medulloblastoma|glioma	T-PLL			p.S2408L(1)	haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240	c.(7222-7224)TCGfs		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Superfamily_domains:SSF48371,Pfam_domain:PF02259,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF66,PROSITE_profiles:PS51189	ataxia telangiectasia mutated isoform 1				ENSP00000278616		49/63										49/63	.	Ataxia_Telangiectasia	ENST00000278616	Transcript	1		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	ENSG00000149311	g.chr11:108199882delG	795	1		HIGH								--	--	1				TSP Lung(14;0.12)																														ATM_uc009yxr.1_Frame_Shift_Del_p.S2408fs|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Frame_Shift_Del_p.S1060fs|ATM_uc001pkg.1_Frame_Shift_Del_p.S765fs		1			p.S2408fs	NM_000051	NP_000042				ATM_HUMAN	ATM	HGNC	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	M0QXY8_HUMAN,E9PRG7_HUMAN,E9PIN0_HUMAN		49	7609	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	UPI0000DBEF44	2408		S -> L (in a colorectal adenocarcinoma sample; somatic mutation).	FAT.		deletion	ATM,frameshift_variant,p.Glu2409AsnfsTer9,ENST00000278616,NM_000051.3;ATM,frameshift_variant,p.Glu2409AsnfsTer9,ENST00000452508,;C11orf65,intron_variant,,ENST00000525729,;C11orf65,downstream_gene_variant,,ENST00000524755,;ATM,upstream_gene_variant,,ENST00000533979,;ATM,non_coding_transcript_exon_variant,,ENST00000524792,;ATM,non_coding_transcript_exon_variant,,ENST00000533690,;ATM,non_coding_transcript_exon_variant,,ENST00000525537,;ATM,non_coding_transcript_exon_variant,,ENST00000527389,;C11orf65,downstream_gene_variant,,ENST00000527531,;ATM,upstream_gene_variant,,ENST00000525056,;	uc001pkb.1	c.7224delG	7609/13147	5	5			c.7224delG	D|Mis|N|F|S			leukemia|lymphoma|medulloblastoma|glioma	T-PLL	11	DEL	c.(7222-7224)TCGfs	6	6		p.S2408L(1)	haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240	Broad	ataxia telangiectasia mutated isoform 1	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents		108199882	Ataxia_Telangiectasia	0.373	ENSG00000149311	1084	g.chr11:108199882delG	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			1073			1073														0.15	1	1	0	1	0	0	0	0	0	--	--	TSP Lung(14;0.12)	0	-			ATM_uc009yxr.1_Frame_Shift_Del_p.S2408fs|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Frame_Shift_Del_p.S1060fs|ATM_uc001pkg.1_Frame_Shift_Del_p.S765fs	175	GBM-19-5955-TP	p.S2408fs	G	TGAAATCATCGGAATTTGAAA	NM_000051	NP_000042	108199882	Q13315	ATM_HUMAN	0		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	49	7609	+	-	-		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	Frame_Shift_Del	2408		S -> L (in a colorectal adenocarcinoma sample; somatic mutation).	FAT.			
ATM	0	broad.mit.edu	GRCh37	11	108143569	108143572	+	frameshift_variant	Frame_Shift_Del	DEL	TCAA	TCAA	-			TCGA-27-2528-01	TCGA-27-2528-01	TCAA	TCAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278616.4:c.3279_3282delCAAT	p.Asn1094AspfsTer14	p.N1094Dfs*14	ENST00000278616	NM_000051.3	1092	TCAAtc/tc	0			1			-	SI/X	uc001pkb.1	protein_coding	YES	CCDS31669.1			3274-3277/9171	D|Mis|N|F|S			leukemia|lymphoma|medulloblastoma|glioma	T-PLL				haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240	c.(3274-3279)TCAATCfs		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Superfamily_domains:SSF48371,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF66	ataxia telangiectasia mutated isoform 1				ENSP00000278616		22/63										22/63	.	Ataxia_Telangiectasia	ENST00000278616	Transcript	1		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	ENSG00000149311	g.chr11:108143569_108143572delTCAA	795	5		HIGH								--	--	1				TSP Lung(14;0.12)																														ATM_uc009yxr.1_Frame_Shift_Del_p.S1092fs		1			p.S1092fs	NM_000051	NP_000042				ATM_HUMAN	ATM	HGNC	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	M0QXY8_HUMAN,E9PRG7_HUMAN,E9PIN0_HUMAN		22	3659_3662	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	UPI0000DBEF44	1092_1093					deletion	ATM,frameshift_variant,p.Asn1094AspfsTer14,ENST00000278616,NM_000051.3;ATM,frameshift_variant,p.Asn1094AspfsTer14,ENST00000452508,;ATM,frameshift_variant,p.Asn1094AspfsTer14,ENST00000527805,;ATM,downstream_gene_variant,,ENST00000419286,;	uc001pkb.1	c.3274_3277delTCAA	3659-3662/13147	5	5			c.3274_3277delTCAA	D|Mis|N|F|S			leukemia|lymphoma|medulloblastoma|glioma	T-PLL	11	DEL	c.(3274-3279)TCAATCfs	58	58			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240	Broad	ataxia telangiectasia mutated isoform 1	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents		108143572	Ataxia_Telangiectasia	0.363	ENSG00000149311	1084	g.chr11:108143569_108143572delTCAA	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			1073			1073														0.22	1	1	0	1	0	0	0	0	0	--	--	TSP Lung(14;0.12)	0	-			ATM_uc009yxr.1_Frame_Shift_Del_p.S1092fs	205	GBM-27-2528-TP	p.S1092fs	TCAA	GGCTGCAGAGTCAATCAATAGGTA	NM_000051	NP_000042	108143569	Q13315	ATM_HUMAN	0		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	22	3659_3662	+	-	-		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	Frame_Shift_Del	1092_1093						
ATM	0	broad.mit.edu	GRCh37	11	108183214	108183214	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-41-3915-01	TCGA-41-3915-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278616.4:c.5995A>G	p.Ile1999Val	p.I1999V	ENST00000278616	NM_000051.3	1999	Ata/Gta	0			1			G	I/V	uc001pkb.1	protein_coding	YES	CCDS31669.1			5995/9171	D|Mis|N|F|S			leukemia|lymphoma|medulloblastoma|glioma	T-PLL				haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240	c.(5995-5997)ATA>GTA		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF66,PROSITE_profiles:PS51189	ataxia telangiectasia mutated isoform 1				ENSP00000278616		40/63									COSM3397390,COSM3397389	40/63	.	Ataxia_Telangiectasia	ENST00000278616	Transcript	1		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	ENSG00000149311	g.chr11:108183214A>G	795			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=ATM_HUMAN&rb=1960&re=2566&var=I1999V	NA	getma.org/?cm=var&var=hg19,11,108183214,A,G&fts=all	I1999V	--	--	1				TSP Lung(14;0.12)																														ATM_uc009yxr.1_Missense_Mutation_p.I1999V|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.I651V|ATM_uc001pkg.1_Missense_Mutation_p.I356V|ATM_uc009yxt.1_Missense_Mutation_p.I113V	1,1	1		benign(0.044)	p.I1999V	NM_000051	NP_000042		tolerated(0.16)	1,1	ATM_HUMAN	ATM	HGNC	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	M0QXY8_HUMAN,E9PRG7_HUMAN,E9PIN0_HUMAN		40	6380	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	UPI0000DBEF44	1999			FAT.		SNV	ATM,missense_variant,p.Ile1999Val,ENST00000278616,NM_000051.3;ATM,missense_variant,p.Ile1999Val,ENST00000452508,;C11orf65,intron_variant,,ENST00000525729,;ATM,non_coding_transcript_exon_variant,,ENST00000532765,;ATM,3_prime_UTR_variant,,ENST00000529588,;ATM,non_coding_transcript_exon_variant,,ENST00000524792,;ATM,non_coding_transcript_exon_variant,,ENST00000533690,;	uc001pkb.1	c.5995A>G	6380/13147	3	3			c.5995A>G	D|Mis|N|F|S			leukemia|lymphoma|medulloblastoma|glioma	T-PLL	11	SNP	c.(5995-5997)ATA>GTA	2	2			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240	Broad	ataxia telangiectasia mutated isoform 1	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents		108183214	Ataxia_Telangiectasia	0.328	ENSG00000149311	1084	g.chr11:108183214A>G	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			1073			1073	-20.372113	KEEP	0	3	-1	53	67	0	3	-1	7.043978	53	67	0.027027	1	0	0	0	0	1	0	0	0	--	--	TSP Lung(14;0.12)	0	G			ATM_uc009yxr.1_Missense_Mutation_p.I1999V|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.I651V|ATM_uc001pkg.1_Missense_Mutation_p.I356V|ATM_uc009yxt.1_Missense_Mutation_p.I113V	256	GBM-41-3915-TP	p.I1999V	A	AGAAACTGGAATAAGTTTACA	NM_000051	NP_000042	108183214	Q13315	ATM_HUMAN	0		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	40	6380	+	G	G		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	Missense_Mutation	1999			FAT.			
ATN1	1822	broad.mit.edu	GRCh37	12	7045674	7045674	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0128-01	TCGA-06-0128-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356654.4:c.1244C>T	p.Pro415Leu	p.P415L	ENST00000356654	NM_001007026.1	415	cCa/cTa	0		T:0	1	T:0		T	P/L	uc001qrw.1	protein_coding	YES	CCDS31734.1			1244/3573									ovary(2)|breast(2)|pancreas(1)|skin(1)	6	c.(1243-1245)CCA>CTA			Pfam_domain:PF03154,hmmpanther:PTHR13859,hmmpanther:PTHR13859:SF9	atrophin-1		T:0		ENSP00000349076	T:0	10-May	4.94E-05							0.000365	rs782540175,COSM3399045	10-May	.		ENST00000356654	Transcript	1		cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	ENSG00000111676	g.chr12:7045674C>T	3033			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=ATN1_HUMAN&rb=349&re=1190&var=P415L	NA	getma.org/?cm=var&var=hg19,12,7045674,C,T&fts=all	P415L	--	--	1																																		ATN1_uc001qrx.1_Missense_Mutation_p.P415L|ATN1_uc001qry.1_Missense_Mutation_p.P414L	0,1	1		probably_damaging(0.995)	p.P415L	NM_001007026	NP_001007027	T:0.001		0,1	ATN1_HUMAN	ATN1	HGNC	P54259	ATN1_HUMAN			Q86V38_HUMAN		5	1481	+			UPI000006F554	415					SNV	ATN1,missense_variant,p.Pro415Leu,ENST00000356654,NM_001007026.1;ATN1,missense_variant,p.Pro415Leu,ENST00000396684,NM_001940.3;ATN1,upstream_gene_variant,,ENST00000537488,;ATN1,upstream_gene_variant,,ENST00000541029,;	uc001qrw.1	c.1244C>T	1481/4351	1	1			c.1244C>T						12	SNP	c.(1243-1245)CCA>CTA	14	14			ovary(2)|breast(2)|pancreas(1)|skin(1)	6	Broad	atrophin-1			7045674		0.468	ENSG00000111676	1086	g.chr12:7045674C>T	cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding							-20.626652	KEEP	3	0	-1	37	79	3	0	-1	6.458264	37	79	0.027273	1	0	0	0	0	1	0	0	0	--	--		0	T			ATN1_uc001qrx.1_Missense_Mutation_p.P415L|ATN1_uc001qry.1_Missense_Mutation_p.P414L	14	GBM-06-0128-TP	p.P415L	C	TTCCCTCCCCCAACAAGCCTC	NM_001007026	NP_001007027	7045674	P54259	ATN1_HUMAN	0			5	1481	+	T	T			Missense_Mutation	415						
ATN1	1822	broad.mit.edu	GRCh37	12	7046515	7046516	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C			TCGA-06-0876-01	TCGA-06-0876-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356654.4:c.2089dup	p.Leu697ProfsTer36	p.L697Pfs*36	ENST00000356654	NM_001007026.1	695	-/C	0			1			C	-/X	uc001qrw.1	protein_coding	YES	CCDS31734.1			2085-2086/3573									ovary(2)|breast(2)|pancreas(1)|skin(1)	6	c.(2083-2088)GGGCCCfs			Pfam_domain:PF03154,hmmpanther:PTHR13859,hmmpanther:PTHR13859:SF9,Low_complexity_(Seg):seg	atrophin-1				ENSP00000349076		10-May										10-May	.		ENST00000356654	Transcript	1		cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	ENSG00000111676	g.chr12:7046515_7046516insC	3033	4		HIGH								--	--	1																																		ATN1_uc001qrx.1_Frame_Shift_Ins_p.G695fs		1			p.G695fs	NM_001007026	NP_001007027				ATN1_HUMAN	ATN1	HGNC	P54259	ATN1_HUMAN			Q86V38_HUMAN		5	2322_2323	+			UPI000006F554	695_696					insertion	ATN1,frameshift_variant,p.Leu697ProfsTer36,ENST00000356654,NM_001007026.1;ATN1,frameshift_variant,p.Leu697ProfsTer36,ENST00000396684,NM_001940.3;ATN1,upstream_gene_variant,,ENST00000537488,;ATN1,upstream_gene_variant,,ENST00000541029,;	uc001qrw.1	c.2085_2086insC	2322-2323/4351	5	5			c.2085_2086insC						12	INS	c.(2083-2088)GGGCCCfs	15	15			ovary(2)|breast(2)|pancreas(1)|skin(1)	6	Broad	atrophin-1			7046516		0.723	ENSG00000111676	1086	g.chr12:7046515_7046516insC	cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding																				0.29	1	0	0	1	1	0	0	0	0	--	--		0	C			ATN1_uc001qrx.1_Frame_Shift_Ins_p.G695fs	72	GBM-06-0876-TP	p.G695fs	-	TGGGACCTGGGCCCCTGCCACC	NM_001007026	NP_001007027	7046515	P54259	ATN1_HUMAN	0			5	2322_2323	+	C	C			Frame_Shift_Ins	695_696						
ATN1	0	broad.mit.edu	GRCh37	12	7047759	7047759	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01	TCGA-28-5208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356654.4:c.2633C>T	p.Pro878Leu	p.P878L	ENST00000356654	NM_001007026.1	878	cCt/cTt	0			1			T	P/L	uc001qrw.1	protein_coding	YES	CCDS31734.1			2633/3573									ovary(2)|breast(2)|pancreas(1)|skin(1)	6	c.(2632-2634)CCT>CTT			Pfam_domain:PF03154,Prints_domain:PR01222,hmmpanther:PTHR13859,hmmpanther:PTHR13859:SF9	atrophin-1				ENSP00000349076		10-Jul									COSM3399046	10-Jul	.		ENST00000356654	Transcript	1		cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	ENSG00000111676	g.chr12:7047759C>T	3033			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=ATN1_HUMAN&rb=349&re=1190&var=P878L	NA	getma.org/?cm=var&var=hg19,12,7047759,C,T&fts=all	P878L	--	--	1																																OREG0021641	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ATN1_uc001qrx.1_Missense_Mutation_p.P878L	1	1		probably_damaging(0.998)	p.P878L	NM_001007026	NP_001007027			1	ATN1_HUMAN	ATN1	HGNC	P54259	ATN1_HUMAN			Q86V38_HUMAN		7	2870	+			UPI000006F554	878					SNV	ATN1,missense_variant,p.Pro878Leu,ENST00000356654,NM_001007026.1;ATN1,missense_variant,p.Pro878Leu,ENST00000396684,NM_001940.3;C12orf57,upstream_gene_variant,,ENST00000545581,;U47924.31,downstream_gene_variant,,ENST00000607421,;C12orf57,upstream_gene_variant,,ENST00000542222,;ATN1,non_coding_transcript_exon_variant,,ENST00000541029,;C12orf57,upstream_gene_variant,,ENST00000538392,;ATN1,upstream_gene_variant,,ENST00000537488,;	uc001qrw.1	c.2633C>T	2870/4351	1	1			c.2633C>T						12	SNP	c.(2632-2634)CCT>CTT	10	10			ovary(2)|breast(2)|pancreas(1)|skin(1)	6	Broad	atrophin-1			7047759		0.632	ENSG00000111676	1086	g.chr12:7047759C>T	cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding							267.250033	KEEP	36	53	-1	50	63	36	53	-1	267.753062	50	63	0.445026	1	0	0	0	0	1	0	0	0	--	--		0	T	OREG0021641	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ATN1_uc001qrx.1_Missense_Mutation_p.P878L	217	GBM-28-5208-TP	p.P878L	C	TACCTGGGTCCTGACACTCCA	NM_001007026	NP_001007027	7047759	P54259	ATN1_HUMAN	0			7	2870	+	T	T			Missense_Mutation	878						
ATOH1	474		GRCh37	4	94750754	94750754	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000306011.3:c.677C>T	p.Pro226Leu	p.P226L	ENST00000306011	NM_005172.1	226	cCg/cTg	0																																																																																																																																																																																																																																												
ATOX1	475	broad.mit.edu	GRCh37	5	151125916	151125916	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-5408-01	TCGA-06-5408-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000524142.1:c.177A>G	p.Gly59=	p.G59=	ENST00000524142		59	ggA/ggG	0			1			C	G	uc003luk.2	protein_coding		CCDS47317.1			177/207										0	c.(175-177)GGA>GGG			Gene3D:3.30.70.100,Pfam_domain:PF00403,PROSITE_profiles:PS50846,hmmpanther:PTHR22814,Low_complexity_(Seg):seg,Superfamily_domains:SSF55008	antioxidant protein 1				ENSP00000316854		4-Mar									COSM3410016,COSM3410015	4-Mar	.		ENST00000313115	Transcript			cellular copper ion homeostasis|copper ion transport|response to oxidative stress	cytosol	copper chaperone activity|copper-dependent protein binding	ENSG00000177556	g.chr5:151125916T>C	798			LOW								--	--	1																																			1,1				p.G59G	NM_004045	NP_004036			1,1	ATOX1_HUMAN	ATOX1	HGNC	O00244	ATOX1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		E5RGN3_HUMAN		3	275	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	UPI000000D843	59			HMA.		SNV	ATOX1,synonymous_variant,p.=,ENST00000521264,;ATOX1,synonymous_variant,p.=,ENST00000524142,;ATOX1,synonymous_variant,p.=,ENST00000522314,;ATOX1,synonymous_variant,p.=,ENST00000522710,;ATOX1,synonymous_variant,p.=,ENST00000313115,NM_004045.3;ATOX1,synonymous_variant,p.=,ENST00000520382,;ATOX1,non_coding_transcript_exon_variant,,ENST00000522145,;	uc003luk.2	c.177A>G	275/488	3	3			c.177A>G						5	SNP	c.(175-177)GGA>GGG	13	13				0	Broad	antioxidant protein 1			151125916		0.542	ENSG00000177556	1090	g.chr5:151125916T>C	cellular copper ion homeostasis|copper ion transport|response to oxidative stress	cytosol	copper chaperone activity|copper-dependent protein binding							10.738393	KEEP	4	5	-1	37	43	4	5	-1	23.778501	37	43	0.098765	1	0	0	0	0	0	0	1	0	--	--		0	C				92	GBM-06-5408-TP	p.G59G	T	AAACAGTCTTTCCTGTTTTCT	NM_004045	NP_004036	151125916	O00244	ATOX1_HUMAN	0	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		3	275	-	C	C		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Silent	59			HMA.			
ATOX1	475		GRCh37	5	151131276	151131276	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000524142.1:c.71A>G	p.Asn24Ser	p.N24S	ENST00000524142		24	aAt/aGt	0																																																																																																																																																																																																																																												
ATP10A	57194	broad.mit.edu	GRCh37	15	25966826	25966827	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	AC			TCGA-06-5408-01	TCGA-06-5408-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356865.6:c.1339_1340dup	p.Glu448Ter	p.E448*	ENST00000356865	NM_024490.3	447	gta/gtGTa	0			1			AC	V/VX	uc010ayu.2	protein_coding	YES	CCDS32178.1			1340-1341/4500									pancreas(2)|ovary(1)|breast(1)|liver(1)	5	c.(1339-1341)GTAfs			hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF43,TIGRFAM_domain:TIGR01494,Pfam_domain:PF12710,TIGRFAM_domain:TIGR01652,Gene3D:3.40.1110.10	ATPase, class V, type 10A				ENSP00000349325		21-Jul										21-Jul	.		ENST00000356865	Transcript	1		ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	ENSG00000206190	g.chr15:25966826_25966827insAC	13542			HIGH								--	--	1																																				1			p.V447fs	NM_024490	NP_077816				AT10A_HUMAN	ATP10A	HGNC	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)			7	1446_1447	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	UPI0000124FAB	447			Cytoplasmic (Potential).		insertion	ATP10A,frameshift_variant,p.Glu448Ter,ENST00000356865,NM_024490.3;ATP10A,frameshift_variant,p.Glu448Ter,ENST00000555815,;	uc010ayu.2	c.1340_1341insGT	1452-1453/6680	5	5			c.1340_1341insGT						15	INS	c.(1339-1341)GTAfs	13	13			pancreas(2)|ovary(1)|breast(1)|liver(1)	5	Broad	ATPase, class V, type 10A			25966827		0.446	ENSG00000206190	1091	g.chr15:25966826_25966827insAC	ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			877			877														0.43	1	0	0	1	1	0	0	0	0	--	--		0	AC				92	GBM-06-5408-TP	p.V447fs	-	GAGAATATTCTACACCAGACAC	NM_024490	NP_077816	25966826	O60312	AT10A_HUMAN	0		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	7	1446_1447	-	AC	AC		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	Frame_Shift_Ins	447			Cytoplasmic (Potential).			
ATP10A	0	broad.mit.edu	GRCh37	15	25924506	25924506	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-19-5958-01	TCGA-19-5958-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356865.6:c.4482T>A	p.Ser1494=	p.S1494=	ENST00000356865	NM_024490.3	1494	tcT/tcA	0			1			T	S	uc010ayu.2	protein_coding	YES	CCDS32178.1			4482/4500									pancreas(2)|ovary(1)|breast(1)|liver(1)	5	c.(4480-4482)TCT>TCA				ATPase, class V, type 10A				ENSP00000349325		21/21									COSM2156834	21/21	.		ENST00000356865	Transcript	1		ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	ENSG00000206190	g.chr15:25924506A>T	13542			LOW								--	--	1																																			1	1			p.S1494S	NM_024490	NP_077816			1	AT10A_HUMAN	ATP10A	HGNC	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)			21	4588	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	UPI0000124FAB	1494			Cytoplasmic (Potential).		SNV	ATP10A,synonymous_variant,p.=,ENST00000356865,NM_024490.3;ATP10A,downstream_gene_variant,,ENST00000555756,;ATP10A,3_prime_UTR_variant,,ENST00000555815,;ATP10A,downstream_gene_variant,,ENST00000555450,;	uc010ayu.2	c.4482T>A	4594/6680	2	2			c.4482T>A						15	SNP	c.(4480-4482)TCT>TCA	30	30			pancreas(2)|ovary(1)|breast(1)|liver(1)	5	Broad	ATPase, class V, type 10A			25924506		0.408	ENSG00000206190	1091	g.chr15:25924506A>T	ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			877			877	74.593145	KEEP	16	16	-1	38	30	16	16	-1	76.84251	38	30	0.325301	1	0	0	0	0	0	0	1	0	--	--		0	T				176	GBM-19-5958-TP	p.S1494S	A	ACCGCCTTGAAGATGCTCCTA	NM_024490	NP_077816	25924506	O60312	AT10A_HUMAN	0		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	21	4588	-	T	T		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	Silent	1494			Cytoplasmic (Potential).			
ATP10A	0	broad.mit.edu	GRCh37	15	25953147	25953147	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356865.6:c.2551C>T	p.Leu851=	p.L851=	ENST00000356865	NM_024490.3	851	Ctg/Ttg	0			1			A	L	uc010ayu.2	protein_coding	YES	CCDS32178.1			2551/4500									pancreas(2)|ovary(1)|breast(1)|liver(1)	5	c.(2551-2553)CTG>TTG			hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF43,Pfam_domain:PF12710,TIGRFAM_domain:TIGR01652,Gene3D:3.40.1110.10,Superfamily_domains:SSF81660	ATPase, class V, type 10A				ENSP00000349325		21-Dec									COSM3747969	21-Dec	.		ENST00000356865	Transcript	1		ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	ENSG00000206190	g.chr15:25953147G>A	13542			LOW								--	--	1																																			1	1			p.L851L	NM_024490	NP_077816			1	AT10A_HUMAN	ATP10A	HGNC	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)			12	2657	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	UPI0000124FAB	851			Cytoplasmic (Potential).		SNV	ATP10A,synonymous_variant,p.=,ENST00000356865,NM_024490.3;ATP10A,3_prime_UTR_variant,,ENST00000555815,;	uc010ayu.2	c.2551C>T	2663/6680	2	2			c.2551C>T						15	SNP	c.(2551-2553)CTG>TTG	33	33			pancreas(2)|ovary(1)|breast(1)|liver(1)	5	Broad	ATPase, class V, type 10A			25953147		0.537	ENSG00000206190	1091	g.chr15:25953147G>A	ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			877			877	56.56811	KEEP	13	8	-1	21	38	13	8	-1	59.610667	21	38	0.28169	1	0	0	0	0	0	0	1	0	--	--		0	A				220	GBM-28-5213-TP	p.L851L	G	TTGGTCTCCAGGCGAATGGCA	NM_024490	NP_077816	25953147	O60312	AT10A_HUMAN	0		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	12	2657	-	A	A		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	Silent	851			Cytoplasmic (Potential).			
ATP10A	57194		GRCh37	15	25925003	25925003	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000356865.6:c.3985C>T	p.Arg1329Cys	p.R1329C	ENST00000356865	NM_024490.3	1329	Cgc/Tgc	0																																																																																																																																																																																																																																												
ATP10A	57194		GRCh37	15	26026298	26026298	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000356865.6:c.522C>T	p.Asn174=	p.N174=	ENST00000356865	NM_024490.3	174	aaC/aaT	0																																																																																																																																																																																																																																												
ATP10B	23120	broad.mit.edu	GRCh37	5	160047524	160047524	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327245.5:c.2246G>A	p.Arg749His	p.R749H	ENST00000327245	NM_025153.2	749	cGc/cAc	0	A:0		1			T	R/H	uc003lym.1	protein_coding	YES	CCDS43394.1			2246/4386									ovary(3)|central_nervous_system(1)|pancreas(1)	5	c.(2245-2247)CGC>CAC			Superfamily_domains:SSF81660,Pfam_domain:PF12710,TIGRFAM_domain:TIGR01652,Gene3D:3.40.1110.10,hmmpanther:PTHR24092:SF42,hmmpanther:PTHR24092	ATPase, class V, type 10B			A:0.0001	ENSP00000313600		15/26	0.00014	0.000103		0.000817		4.53E-05		0.000364	rs371457894,COSM2152190	15/26	common_variant		ENST00000327245	Transcript			ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	ENSG00000118322	g.chr5:160047524C>T	13543			MODERATE		1.4	low	getma.org/?cm=msa&ty=f&p=AT10B_HUMAN&rb=430&re=1064&var=R749H	NA	getma.org/?cm=var&var=hg19,5,160047524,C,T&fts=all	R749H	--	--	1																																		ATP10B_uc010jit.1_Missense_Mutation_p.R66H|ATP10B_uc003lyn.2_Missense_Mutation_p.R307H	0,1	1		probably_damaging(0.973)	p.R749H	NM_025153	NP_079429		deleterious(0.03)	0,1	AT10B_HUMAN	ATP10B	HGNC	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)				15	3093	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	UPI0000191DAE	749			Cytoplasmic (Potential).		SNV	ATP10B,missense_variant,p.Arg749His,ENST00000327245,NM_025153.2;ATP10B,missense_variant,p.Arg357His,ENST00000520108,;CTC-348L5.1,intron_variant,,ENST00000523598,;	uc003lym.1	c.2246G>A	3093/7566	2	2			c.2246G>A						5	SNP	c.(2245-2247)CGC>CAC	38	38			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Broad	ATPase, class V, type 10B			160047524		0.612	ENSG00000118322	1092	g.chr5:160047524C>T	ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity							73.423594	KEEP	18	9	-1	11	24	18	9	-1	73.560655	11	24	0.448276	1	0	0	0	0	1	0	0	0	--	--		0	T			ATP10B_uc010jit.1_Missense_Mutation_p.R66H|ATP10B_uc003lyn.2_Missense_Mutation_p.R307H	73	GBM-06-0877-TP	p.R749H	C	CTGGGGCAGGCGCACAGTCAC	NM_025153	NP_079429	160047524	O94823	AT10B_HUMAN	0	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		15	3093	-	T	T	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Missense_Mutation	749			Cytoplasmic (Potential).			
ATP10B	23120	broad.mit.edu	GRCh37	5	160063304	160063304	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-2561-01	TCGA-06-2561-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327245.5:c.1013G>A	p.Trp338Ter	p.W338*	ENST00000327245	NM_025153.2	338	tGg/tAg	0			1			T	W/*	uc003lym.1	protein_coding	YES	CCDS43394.1			1013/4386									ovary(3)|central_nervous_system(1)|pancreas(1)	5	c.(1012-1014)TGG>TAG			Superfamily_domains:0049473,Pfam_domain:PF00122,TIGRFAM_domain:TIGR01652,hmmpanther:PTHR24092:SF42,hmmpanther:PTHR24092,Transmembrane_helices:TMhelix	ATPase, class V, type 10B				ENSP00000313600		26-Nov									COSM3410069	26-Nov	.		ENST00000327245	Transcript			ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	ENSG00000118322	g.chr5:160063304C>T	13543			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,5,160063304,C,T&fts=all	W338*	--	--	1																																		ATP10B_uc003lyp.2_Nonsense_Mutation_p.W338*|ATP10B_uc011deg.1_Nonsense_Mutation_p.W382*|ATP10B_uc003lyn.2_5'Flank|ATP10B_uc003lyo.2_Nonsense_Mutation_p.W310*	1	1			p.W338*	NM_025153	NP_079429			1	AT10B_HUMAN	ATP10B	HGNC	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)				11	1860	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	UPI0000191DAE	338			Helical; (Potential).		SNV	ATP10B,stop_gained,p.Trp338Ter,ENST00000327245,NM_025153.2;ATP10B,upstream_gene_variant,,ENST00000520108,;CTC-348L5.1,intron_variant,,ENST00000523598,;ATP10B,non_coding_transcript_exon_variant,,ENST00000326831,;ATP10B,non_coding_transcript_exon_variant,,ENST00000517802,;ATP10B,non_coding_transcript_exon_variant,,ENST00000521033,;	uc003lym.1	c.1013G>A	1860/7566	5	2			c.1013G>A						5	SNP	c.(1012-1014)TGG>TAG	26	26			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Broad	ATPase, class V, type 10B			160063304		0.498	ENSG00000118322	1092	g.chr5:160063304C>T	ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity							-17.597963	KEEP	2	2	-1	60	52	2	2	-1	6.644691	60	52	0.038095	1	0	0	0	0	0	1	0	0	--	--		0	T			ATP10B_uc003lyp.2_Nonsense_Mutation_p.W338*|ATP10B_uc011deg.1_Nonsense_Mutation_p.W382*|ATP10B_uc003lyn.2_5'Flank|ATP10B_uc003lyo.2_Nonsense_Mutation_p.W310*	84	GBM-06-2561-TP	p.W338*	C	GGTCCCATTCCAGATGCTGTG	NM_025153	NP_079429	160063304	O94823	AT10B_HUMAN	0	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1860	-	T	T	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Nonsense_Mutation	338			Helical; (Potential).			
ATP10B	0	broad.mit.edu	GRCh37	5	160061402	160061402	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327245.5:c.1340G>A	p.Arg447His	p.R447H	ENST00000327245	NM_025153.2	447	cGt/cAt	0	T:0.0003		1			T	R/H	uc003lym.1	protein_coding	YES	CCDS43394.1			1340/4386									ovary(3)|central_nervous_system(1)|pancreas(1)	5	c.(1339-1341)CGT>CAT			Pfam_domain:PF12710,TIGRFAM_domain:TIGR01652,TIGRFAM_domain:TIGR01494,Gene3D:3.40.1110.10,hmmpanther:PTHR24092:SF42,hmmpanther:PTHR24092	ATPase, class V, type 10B			T:0	ENSP00000313600		26-Dec	5.79E-05	0.000307	8.65E-05		0.000151	1.50E-05		6.06E-05	rs376023056,COSM2154298	26-Dec	.		ENST00000327245	Transcript			ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	ENSG00000118322	g.chr5:160061402C>T	13543			MODERATE		2.555	medium	getma.org/?cm=msa&ty=f&p=AT10B_HUMAN&rb=430&re=1064&var=R447H	NA	getma.org/?cm=var&var=hg19,5,160061402,C,T&fts=all	R447H	--	--	1																																		ATP10B_uc003lyp.2_Missense_Mutation_p.R447H|ATP10B_uc011deg.1_Missense_Mutation_p.R491H|ATP10B_uc003lyn.2_Missense_Mutation_p.R5H|ATP10B_uc003lyo.2_Missense_Mutation_p.R419H	0,1	1		probably_damaging(0.992)	p.R447H	NM_025153	NP_079429		deleterious(0)	0,1	AT10B_HUMAN	ATP10B	HGNC	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)				12	2187	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	UPI0000191DAE	447			Cytoplasmic (Potential).		SNV	ATP10B,missense_variant,p.Arg447His,ENST00000327245,NM_025153.2;ATP10B,missense_variant,p.Arg55His,ENST00000520108,;CTC-348L5.1,intron_variant,,ENST00000523598,;ATP10B,non_coding_transcript_exon_variant,,ENST00000326831,;ATP10B,non_coding_transcript_exon_variant,,ENST00000517802,;ATP10B,non_coding_transcript_exon_variant,,ENST00000521033,;	uc003lym.1	c.1340G>A	2187/7566	2	2			c.1340G>A						5	SNP	c.(1339-1341)CGT>CAT	24	24			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Broad	ATPase, class V, type 10B			160061402		0.507	ENSG00000118322	1092	g.chr5:160061402C>T	ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity							411.348915	KEEP	72	62	-1	81	61	72	62	-1	411.377944	81	61	0.488722	1	0	0	0	0	1	0	0	0	--	--		0	T			ATP10B_uc003lyp.2_Missense_Mutation_p.R447H|ATP10B_uc011deg.1_Missense_Mutation_p.R491H|ATP10B_uc003lyn.2_Missense_Mutation_p.R5H|ATP10B_uc003lyo.2_Missense_Mutation_p.R419H	122	GBM-12-0692-TP	p.R447H	C	GATGGTGCAACGTCGGAACAC	NM_025153	NP_079429	160061402	O94823	AT10B_HUMAN	0	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		12	2187	-	T	T	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Missense_Mutation	447			Cytoplasmic (Potential).			
ATP10B	0	broad.mit.edu	GRCh37	5	160047790	160047790	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-4097-01	TCGA-41-4097-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327245.5:c.1980G>A	p.Ser660=	p.S660=	ENST00000327245	NM_025153.2	660	tcG/tcA	0	T:0	T:0	1	T:0		T	S	uc003lym.1	protein_coding	YES	CCDS43394.1			1980/4386									ovary(3)|central_nervous_system(1)|pancreas(1)	5	c.(1978-1980)TCG>TCA			Pfam_domain:PF12710,hmmpanther:PTHR24092:SF42,hmmpanther:PTHR24092	ATPase, class V, type 10B		T:0.001	T:0.0001	ENSP00000313600	T:0	15/26	3.30E-05			0.000116		4.50E-05			rs201458050,COSM3247613	15/26	.		ENST00000327245	Transcript		T:0.0002	ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	ENSG00000118322	g.chr5:160047790C>T	13543			LOW								--	--	1																																		ATP10B_uc010jit.1_5'UTR|ATP10B_uc003lyn.2_Silent_p.S218S	0,1	1			p.S660S	NM_025153	NP_079429	T:0		0,1	AT10B_HUMAN	ATP10B	HGNC	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)				15	2827	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	UPI0000191DAE	660			Cytoplasmic (Potential).		SNV	ATP10B,synonymous_variant,p.=,ENST00000327245,NM_025153.2;ATP10B,synonymous_variant,p.=,ENST00000520108,;CTC-348L5.1,intron_variant,,ENST00000523598,;	uc003lym.1	c.1980G>A	2827/7566	1	1			c.1980G>A						5	SNP	c.(1978-1980)TCG>TCA	6	6			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Broad	ATPase, class V, type 10B			160047790		0.572	ENSG00000118322	1092	g.chr5:160047790C>T	ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity							-18.672388	KEEP	2	1	-1	53	63	2	1	-1	7.305363	53	63	0.028302	1	0	0	0	0	0	0	1	0	--	--		0	T			ATP10B_uc010jit.1_5'UTR|ATP10B_uc003lyn.2_Silent_p.S218S	257	GBM-41-4097-TP	p.S660S	C	CTCTCTCATCCGAGTCTGTGG	NM_025153	NP_079429	160047790	O94823	AT10B_HUMAN	0	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		15	2827	-	T	T	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Silent	660			Cytoplasmic (Potential).			
ATP10D	57205	broad.mit.edu	GRCh37	4	47575010	47575010	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0875-01	TCGA-06-0875-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273859.3:c.3362A>T	p.Asn1121Ile	p.N1121I	ENST00000273859	NM_020453.3	1121	aAt/aTt	0			1			T	N/I	uc003gxk.1	protein_coding	YES	CCDS3476.1			3362/4281									ovary(2)|pancreas(1)	3	c.(3361-3363)AAT>ATT			Transmembrane_helices:TMhelix,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF61,TIGRFAM_domain:TIGR01652,TIGRFAM_domain:TIGR01494,Superfamily_domains:0049473	ATPase, class V, type 10D				ENSP00000273859		18/23									COSM3409325	18/23	.		ENST00000273859	Transcript			ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	ENSG00000145246	g.chr4:47575010A>T	13549			MODERATE		4.675	high	getma.org/?cm=msa&ty=f&p=AT10D_HUMAN&rb=1066&re=1265&var=N1121I	NA	getma.org/?cm=var&var=hg19,4,47575010,A,T&fts=all	N1121I	--	--	1																																		ATP10D_uc003gxl.1_Missense_Mutation_p.N369I	1	1		probably_damaging(1)	p.N1121I	NM_020453	NP_065186		deleterious(0)	1	AT10D_HUMAN	ATP10D	HGNC	Q9P241	AT10D_HUMAN					18	3526	+			UPI00001AE9B7	1121			Helical; (Potential).		SNV	ATP10D,missense_variant,p.Asn1121Ile,ENST00000273859,NM_020453.3;ATP10D,3_prime_UTR_variant,,ENST00000503288,;	uc003gxk.1	c.3362A>T	3631/6655	2	2			c.3362A>T						4	SNP	c.(3361-3363)AAT>ATT	18	18			ovary(2)|pancreas(1)	3	Broad	ATPase, class V, type 10D			47575010		0.433	ENSG00000145246	1093	g.chr4:47575010A>T	ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity							-27.198104	KEEP	11	12	-1	220	183	11	12	-1	53.324009	220	183	0.058376	1	0	0	0	0	1	0	0	0	--	--		0	T			ATP10D_uc003gxl.1_Missense_Mutation_p.N369I	71	GBM-06-0875-TP	p.N1121I	A	TTCTATAAGAATGTGGTATGT	NM_020453	NP_065186	47575010	Q9P241	AT10D_HUMAN	0			18	3526	+	T	T			Missense_Mutation	1121			Helical; (Potential).			
ATP10D	57205	broad.mit.edu	GRCh37	4	47538903	47538903	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-2569-01	TCGA-06-2569-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273859.3:c.1344G>T	p.Met448Ile	p.M448I	ENST00000273859	NM_020453.3	448	atG/atT	0			1			T	M/I	uc003gxk.1	protein_coding	YES	CCDS3476.1			1344/4281									ovary(2)|pancreas(1)	3	c.(1342-1344)ATG>ATT			hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF61,Gene3D:3.40.1110.10,Pfam_domain:PF12710,TIGRFAM_domain:TIGR01652,Prints_domain:PR00119	ATPase, class V, type 10D				ENSP00000273859		23-Sep									COSM3748270	23-Sep	.		ENST00000273859	Transcript			ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	ENSG00000145246	g.chr4:47538903G>T	13549			MODERATE		2.72	medium	getma.org/?cm=msa&ty=f&p=AT10D_HUMAN&rb=435&re=1065&var=M448I	NA	getma.org/?cm=var&var=hg19,4,47538903,G,T&fts=all	M448I	--	--	1																																		ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Missense_Mutation_p.M433I	1	1		possibly_damaging(0.708)	p.M448I	NM_020453	NP_065186		deleterious(0.02)	1	AT10D_HUMAN	ATP10D	HGNC	Q9P241	AT10D_HUMAN					9	1508	+			UPI00001AE9B7	448			Cytoplasmic (Potential).		SNV	ATP10D,missense_variant,p.Met448Ile,ENST00000273859,NM_020453.3;ATP10D,missense_variant,p.Met433Ile,ENST00000504445,;ATP10D,missense_variant,p.Met96Ile,ENST00000503288,;	uc003gxk.1	c.1344G>T	1613/6655	2	2			c.1344G>T						4	SNP	c.(1342-1344)ATG>ATT	44	44			ovary(2)|pancreas(1)	3	Broad	ATPase, class V, type 10D			47538903		0.433	ENSG00000145246	1093	g.chr4:47538903G>T	ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity							27.194028	KEEP	9	9	0.5	42	37	9	9	0.5	35.174848	42	37	0.175	1	0	0	0	0	1	0	0	0	--	--		0	T			ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Missense_Mutation_p.M433I	90	GBM-06-2569-TP	p.M448I	G	AGAATAAGATGGTTTTTCGAA	NM_020453	NP_065186	47538903	Q9P241	AT10D_HUMAN	0			9	1508	+	T	T			Missense_Mutation	448			Cytoplasmic (Potential).			
ATP11A	23250	broad.mit.edu	GRCh37	13	113510350	113510350	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-2483-01	TCGA-02-2483-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000487903.1:c.2369G>A	p.Ser790Asn	p.S790N	ENST00000487903		790	aGc/aAc	0			1			A	S/N	uc001vsi.3	protein_coding		CCDS32011.1			2369/3405									large_intestine(2)|ovary(2)	4	c.(2368-2370)AGC>AAC			Pfam_domain:PF12710,TIGRFAM_domain:TIGR01652,TIGRFAM_domain:TIGR01494,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF33	ATPase, class VI, type 11A isoform a				ENSP00000364796		20/30									COSM2149152,COSM2149153	20/30	.		ENST00000375645	Transcript	1		ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	ENSG00000068650	g.chr13:113510350G>A	13552			MODERATE		-1.055	neutral	getma.org/?cm=msa&ty=f&p=AT11A_HUMAN&rb=411&re=834&var=S790N	NA	getma.org/?cm=var&var=hg19,13,113510350,G,A&fts=all	S790N	--	--	1																																		ATP11A_uc001vsj.3_Missense_Mutation_p.S790N|ATP11A_uc001vsm.1_Missense_Mutation_p.S666N|ATP11A_uc010ago.2_RNA	1,1			benign(0.001)	p.S790N	NM_015205	NP_056020		tolerated(1)	1,1	AT11A_HUMAN	ATP11A	HGNC	P98196	AT11A_HUMAN					20	2457	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	UPI00001FCB27	790			Cytoplasmic (Potential).		SNV	ATP11A,missense_variant,p.Ser790Asn,ENST00000487903,;ATP11A,missense_variant,p.Ser790Asn,ENST00000375645,NM_015205.2;ATP11A,missense_variant,p.Ser790Asn,ENST00000375630,NM_032189.3;ATP11A,missense_variant,p.Ser790Asn,ENST00000283558,;ATP11A,missense_variant,p.Ser765Asn,ENST00000418678,;ATP11A,downstream_gene_variant,,ENST00000489577,;ATP11A,downstream_gene_variant,,ENST00000459011,;ATP11A,missense_variant,p.Ser211Asn,ENST00000471555,;ATP11A,non_coding_transcript_exon_variant,,ENST00000459908,;	uc001vsi.3	c.2369G>A	2457/8795	2	2			c.2369G>A						13	SNP	c.(2368-2370)AGC>AAC	29	29			large_intestine(2)|ovary(2)	4	Broad	ATPase, class VI, type 11A isoform a			113510350		0.597	ENSG00000068650	1094	g.chr13:113510350G>A	ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			1064			1064	248.613868	KEEP	50	44	-1	40	60	50	44	-1	248.634158	40	60	0.488235	1	0	0	0	0	1	0	0	0	--	--		0	A			ATP11A_uc001vsj.3_Missense_Mutation_p.S790N|ATP11A_uc001vsm.1_Missense_Mutation_p.S666N|ATP11A_uc010ago.2_RNA	6	GBM-02-2483-TP	p.S790N	G	ATCTGCCGGAGCTGCAGCGCG	NM_015205	NP_056020	113510350	P98196	AT11A_HUMAN	0			20	2457	+	A	A	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	Missense_Mutation	790			Cytoplasmic (Potential).			
ATP11A	0	broad.mit.edu	GRCh37	13	113527920	113527920	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-28-1747-01	TCGA-28-1747-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375645.3:c.3091A>T	p.Asn1031Tyr	p.N1031Y	ENST00000375645	NM_015205.2	1031	Aac/Tac	0			1			T	N/Y	uc001vsi.3	protein_coding		CCDS32011.1			3091/3405									large_intestine(2)|ovary(2)	4	c.(3091-3093)AAC>TAC			Superfamily_domains:0049473,TIGRFAM_domain:TIGR01652,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF33	ATPase, class VI, type 11A isoform a				ENSP00000364796		27/30									COSM3399243,COSM3399244	27/30	.		ENST00000375645	Transcript	1		ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	ENSG00000068650	g.chr13:113527920A>T	13552			MODERATE		3.545	high	getma.org/?cm=msa&ty=f&p=AT11A_HUMAN&rb=835&re=1034&var=N1031Y	NA	getma.org/?cm=var&var=hg19,13,113527920,A,T&fts=all	N1031Y	--	--	1																																OREG0003854	type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	ATP11A_uc001vsj.3_Missense_Mutation_p.N1031Y|ATP11A_uc010ago.2_RNA	1,1			possibly_damaging(0.818)	p.N1031Y	NM_015205	NP_056020		deleterious(0.02)	1,1	AT11A_HUMAN	ATP11A	HGNC	P98196	AT11A_HUMAN					27	3179	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	UPI00001FCB27	1031			Helical; (Potential).		SNV	ATP11A,missense_variant,p.Asn1031Tyr,ENST00000487903,;ATP11A,missense_variant,p.Asn1031Tyr,ENST00000375645,NM_015205.2;ATP11A,missense_variant,p.Asn1031Tyr,ENST00000375630,NM_032189.3;ATP11A,missense_variant,p.Asn1031Tyr,ENST00000283558,;ATP11A,missense_variant,p.Asn23Tyr,ENST00000419631,;ATP11A,upstream_gene_variant,,ENST00000415301,;ATP11A,3_prime_UTR_variant,,ENST00000471555,;ATP11A,non_coding_transcript_exon_variant,,ENST00000493489,;ATP11A,non_coding_transcript_exon_variant,,ENST00000495930,;	uc001vsi.3	c.3091A>T	3179/8795	2	2			c.3091A>T						13	SNP	c.(3091-3093)AAC>TAC	24	24			large_intestine(2)|ovary(2)	4	Broad	ATPase, class VI, type 11A isoform a			113527920		0.448	ENSG00000068650	1094	g.chr13:113527920A>T	ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			1064			1064	-7.670325	KEEP	8	1	-1	63	68	8	1	-1	15.765277	63	68	0.060345	1	0	0	0	0	1	0	0	0	--	--		0	T	OREG0003854	type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	ATP11A_uc001vsj.3_Missense_Mutation_p.N1031Y|ATP11A_uc010ago.2_RNA	206	GBM-28-1747-TP	p.N1031Y	A	GACTTGGATCAACCATTTTGT	NM_015205	NP_056020	113527920	P98196	AT11A_HUMAN	0			27	3179	+	T	T	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	Missense_Mutation	1031			Helical; (Potential).			
ATP11A	0	broad.mit.edu	GRCh37	13	113485796	113485796	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2632-01	TCGA-32-2632-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375645.3:c.1329C>T	p.Asn443=	p.N443=	ENST00000375645	NM_015205.2	443	aaC/aaT	0			1			T	N	uc001vsi.3	protein_coding		CCDS32011.1			1329/3405									large_intestine(2)|ovary(2)	4	c.(1327-1329)AAC>AAT			Superfamily_domains:SSF81660,Pfam_domain:PF12710,Gene3D:3.40.1110.10,TIGRFAM_domain:TIGR01652,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF33	ATPase, class VI, type 11A isoform a				ENSP00000364796		13/30	2.47E-05		8.65E-05			1.50E-05		6.06E-05	rs760113692,COSM3399241,COSM3399242	13/30	.		ENST00000375645	Transcript	1		ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	ENSG00000068650	g.chr13:113485796C>T	13552			LOW								--	--	1																																		ATP11A_uc001vsj.3_Silent_p.N443N|ATP11A_uc001vsm.1_Silent_p.N319N	0,1,1				p.N443N	NM_015205	NP_056020			0,1,1	AT11A_HUMAN	ATP11A	HGNC	P98196	AT11A_HUMAN					13	1417	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	UPI00001FCB27	443			Cytoplasmic (Potential).		SNV	ATP11A,synonymous_variant,p.=,ENST00000487903,;ATP11A,synonymous_variant,p.=,ENST00000375645,NM_015205.2;ATP11A,synonymous_variant,p.=,ENST00000375630,NM_032189.3;ATP11A,synonymous_variant,p.=,ENST00000283558,;ATP11A,synonymous_variant,p.=,ENST00000418678,;ATP11A,upstream_gene_variant,,ENST00000489577,;ATP11A,non_coding_transcript_exon_variant,,ENST00000459908,;	uc001vsi.3	c.1329C>T	1417/8795	2	2			c.1329C>T						13	SNP	c.(1327-1329)AAC>AAT	42	42			large_intestine(2)|ovary(2)	4	Broad	ATPase, class VI, type 11A isoform a			113485796		0.587	ENSG00000068650	1094	g.chr13:113485796C>T	ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		p.N443N(HS698.T-Tumor)	1064		p.N443N(HS698.T-Tumor)	1064	31.979571	KEEP	11	5	-1	18	19	11	5	-1	34.53075	18	19	0.255319	1	0	0	0	0	0	0	1	0	--	--		0	T			ATP11A_uc001vsj.3_Silent_p.N443N|ATP11A_uc001vsm.1_Silent_p.N319N	240	GBM-32-2632-TP	p.N443N	C	TCATCTGCAACGGGCAGGTCC	NM_015205	NP_056020	113485796	P98196	AT11A_HUMAN	0			13	1417	+	T	T	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	Silent	443			Cytoplasmic (Potential).			
ATP11B	23200	broad.mit.edu	GRCh37	3	182585181	182585181	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0878-01	TCGA-06-0878-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323116.5:c.1637T>C	p.Ile546Thr	p.I546T	ENST00000323116	NM_014616.2	546	aTt/aCt	0			1			C	I/T	uc003flb.2	protein_coding	YES	CCDS33896.1			1637/3534									ovary(2)|pancreas(1)	3	c.(1636-1638)ATT>ACT			hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF57,Gene3D:3.40.1110.10,Pfam_domain:PF00702,TIGRFAM_domain:TIGR01652,Superfamily_domains:SSF81660	ATPase, class VI, type 11B				ENSP00000321195		15/30									COSM2152223	15/30	.		ENST00000323116	Transcript			aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	ENSG00000058063	g.chr3:182585181T>C	13553			MODERATE		-0.625	neutral	getma.org/?cm=msa&ty=f&p=AT11B_HUMAN&rb=401&re=833&var=I546T	getma.org/pdb.php?prot=AT11B_HUMAN&from=401&to=833&var=I546T	getma.org/?cm=var&var=hg19,3,182585181,T,C&fts=all	I546T	--	--	1																																		ATP11B_uc003flc.2_Missense_Mutation_p.I130T	1	1		benign(0.007)	p.I546T	NM_014616	NP_055431		tolerated(0.38)	1	AT11B_HUMAN	ATP11B	HGNC	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		B4E3T1_HUMAN		15	1894	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		UPI000004124E	546			Cytoplasmic (Potential).		SNV	ATP11B,missense_variant,p.Ile546Thr,ENST00000323116,NM_014616.2;ATP11B,missense_variant,p.Ile347Thr,ENST00000498086,;ATP11B,non_coding_transcript_exon_variant,,ENST00000490303,;	uc003flb.2	c.1637T>C	1897/7325	3	3			c.1637T>C						3	SNP	c.(1636-1638)ATT>ACT	14	14			ovary(2)|pancreas(1)	3	Broad	ATPase, class VI, type 11B			182585181		0.294	ENSG00000058063	1095	g.chr3:182585181T>C	aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity							209.811457	KEEP	51	28	-1	106	94	51	28	-1	218.849475	106	94	0.291845	1	0	0	0	0	1	0	0	0	--	--		0	C			ATP11B_uc003flc.2_Missense_Mutation_p.I130T	74	GBM-06-0878-TP	p.I546T	T	ATTGTGTTTATTGGCAATTCT	NM_014616	NP_055431	182585181	Q9Y2G3	AT11B_HUMAN	0	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		15	1894	+	C	C	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		Missense_Mutation	546			Cytoplasmic (Potential).			
ATP11B	23200		GRCh37	3	182559871	182559871	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000323116.5:c.665G>T	p.Gly222Val	p.G222V	ENST00000323116	NM_014616.2	222	gGa/gTa	0																																																																																																																																																																																																																																												
ATP11C	0	broad.mit.edu	GRCh37	X	138864837	138864837	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-16-0861-01	TCGA-16-0861-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327569.3:c.1830T>C	p.Asp610=	p.D610=	ENST00000327569	NM_173694.4	610	gaT/gaC	0			1			G	D	uc004faz.2	protein_coding	YES	CCDS14668.1			1830/3399									ovary(5)|large_intestine(3)	8	c.(1828-1830)GAT>GAC			hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF38,Pfam_domain:PF12710,Gene3D:3.40.1110.10,TIGRFAM_domain:TIGR01652,Superfamily_domains:SSF81660,Superfamily_domains:SSF56784	ATPase, class VI, type 11C isoform a				ENSP00000332756		18/30									COSM3406008,COSM3406009,COSM3406010	18/30	.		ENST00000327569	Transcript			ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	ENSG00000101974	g.chrX:138864837A>G	13554			LOW								--	--	1																																		ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Silent_p.D610D	1,1,1	1			p.D610D	NM_173694	NP_775965			1,1,1	AT11C_HUMAN	ATP11C	HGNC	Q8NB49	AT11C_HUMAN					18	1929	-	Acute lymphoblastic leukemia(192;0.000127)		UPI000036777E	610			Cytoplasmic (Potential).		SNV	ATP11C,synonymous_variant,p.=,ENST00000370557,;ATP11C,synonymous_variant,p.=,ENST00000327569,NM_173694.4;ATP11C,synonymous_variant,p.=,ENST00000361648,NM_001010986.2;ATP11C,synonymous_variant,p.=,ENST00000370543,;ATP11C,synonymous_variant,p.=,ENST00000359686,;ATP11C,synonymous_variant,p.=,ENST00000422228,;ATP11C,non_coding_transcript_exon_variant,,ENST00000460773,;ATP11C,upstream_gene_variant,,ENST00000471746,;	uc004faz.2	c.1830T>C	1929/6115	4	4			c.1830T>C						23	SNP	c.(1828-1830)GAT>GAC	18	18			ovary(5)|large_intestine(3)	8	Broad	ATPase, class VI, type 11C isoform a			138864837		0.353	ENSG00000101974	1096	g.chrX:138864837A>G	ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity							201.17211	KEEP	36	24	-1	19	18	36	24	-1	202.408329	19	18	0.627907	1	0	0	0	0	0	0	1	0	--	--		0	G			ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Silent_p.D610D	156	GBM-16-0861-TP	p.D610D	A	TTCTTTCATAATCATCTGGAG	NM_173694	NP_775965	138864837	Q8NB49	AT11C_HUMAN	0			18	1929	-	G	G	Acute lymphoblastic leukemia(192;0.000127)		Silent	610			Cytoplasmic (Potential).			
ATP11C	0	broad.mit.edu	GRCh37	X	138897124	138897124	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-19-2625-01	TCGA-19-2625-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327569.3:c.348A>T	p.Arg116Ser	p.R116S	ENST00000327569	NM_173694.4	116	agA/agT	0			1			A	R/S	uc004faz.2	protein_coding	YES	CCDS14668.1			348/3399									ovary(5)|large_intestine(3)	8	c.(346-348)AGA>AGT			hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF38,Pfam_domain:PF00122,Gene3D:2.70.150.10,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01652,Superfamily_domains:0049473	ATPase, class VI, type 11C isoform a				ENSP00000332756		30-May									COSM3406017,COSM3406018,COSM3406019	30-May	.		ENST00000327569	Transcript			ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	ENSG00000101974	g.chrX:138897124T>A	13554			MODERATE		4.055	high	getma.org/?cm=msa&ty=f&p=AT11C_HUMAN&rb=97&re=382&var=R116S	NA	getma.org/?cm=var&var=hg19,X,138897124,T,A&fts=all	R116S	--	--	1																																		ATP11C_uc004fba.2_Missense_Mutation_p.R116S	1,1,1	1		probably_damaging(0.999)	p.R116S	NM_173694	NP_775965		deleterious(0)	1,1,1	AT11C_HUMAN	ATP11C	HGNC	Q8NB49	AT11C_HUMAN					5	447	-	Acute lymphoblastic leukemia(192;0.000127)		UPI000036777E	116			Cytoplasmic (Potential).		SNV	ATP11C,missense_variant,p.Arg113Ser,ENST00000370557,;ATP11C,missense_variant,p.Arg116Ser,ENST00000327569,NM_173694.4;ATP11C,missense_variant,p.Arg116Ser,ENST00000361648,NM_001010986.2;ATP11C,missense_variant,p.Arg116Ser,ENST00000370543,;ATP11C,missense_variant,p.Arg116Ser,ENST00000359686,;ATP11C,non_coding_transcript_exon_variant,,ENST00000485626,;	uc004faz.2	c.348A>T	447/6115	2	2			c.348A>T						23	SNP	c.(346-348)AGA>AGT	47	47			ovary(5)|large_intestine(3)	8	Broad	ATPase, class VI, type 11C isoform a			138897124		0.303	ENSG00000101974	1096	g.chrX:138897124T>A	ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity							82.408221	KEEP	13	21	-1	50	36	13	21	-1	86.428484	50	36	0.291262	1	0	0	0	0	1	0	0	0	--	--		0	A			ATP11C_uc004fba.2_Missense_Mutation_p.R116S	165	GBM-19-2625-TP	p.R116S	T	CAGCTCTGTGTCTCAGACAAT	NM_173694	NP_775965	138897124	Q8NB49	AT11C_HUMAN	0			5	447	-	A	A	Acute lymphoblastic leukemia(192;0.000127)		Missense_Mutation	116			Cytoplasmic (Potential).			
ATP11C	0	broad.mit.edu	GRCh37	X	138908934	138908934	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-4926-01	TCGA-76-4926-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327569.3:c.85A>G	p.Asn29Asp	p.N29D	ENST00000327569	NM_173694.4	29	Aat/Gat	0			1			C	N/D	uc004faz.2	protein_coding	YES	CCDS14668.1			85/3399									ovary(5)|large_intestine(3)	8	c.(85-87)AAT>GAT			hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF38	ATPase, class VI, type 11C isoform a				ENSP00000332756		Feb-30									COSM3406020,COSM3406021,COSM3406022	Feb-30	.		ENST00000327569	Transcript			ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	ENSG00000101974	g.chrX:138908934T>C	13554			MODERATE		0.815	low	getma.org/?cm=msa&ty=f&p=AT11C_HUMAN&rb=1&re=96&var=N29D	NA	getma.org/?cm=var&var=hg19,X,138908934,T,C&fts=all	N29D	--	--	1																																		ATP11C_uc004fba.2_Missense_Mutation_p.N29D	1,1,1	1		benign(0.098)	p.N29D	NM_173694	NP_775965		deleterious(0.05)	1,1,1	AT11C_HUMAN	ATP11C	HGNC	Q8NB49	AT11C_HUMAN					2	184	-	Acute lymphoblastic leukemia(192;0.000127)		UPI000036777E	29			Cytoplasmic (Potential).		SNV	ATP11C,missense_variant,p.Asn26Asp,ENST00000370557,;ATP11C,missense_variant,p.Asn29Asp,ENST00000327569,NM_173694.4;ATP11C,missense_variant,p.Asn29Asp,ENST00000361648,NM_001010986.2;ATP11C,missense_variant,p.Asn29Asp,ENST00000370543,;ATP11C,missense_variant,p.Asn29Asp,ENST00000359686,;ATP11C,non_coding_transcript_exon_variant,,ENST00000485626,;	uc004faz.2	c.85A>G	184/6115	3	3			c.85A>G						23	SNP	c.(85-87)AAT>GAT	64	64			ovary(5)|large_intestine(3)	8	Broad	ATPase, class VI, type 11C isoform a			138908934		0.373	ENSG00000101974	1096	g.chrX:138908934T>C	ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity							341.568622	KEEP	55	50	-1	11	14	55	50	-1	352.443933	11	14	0.813559	1	0	0	0	0	1	0	0	0	--	--		0	C			ATP11C_uc004fba.2_Missense_Mutation_p.N29D	266	GBM-76-4926-TP	p.N29D	T	ACTGGATGATTGCCAACAAAC	NM_173694	NP_775965	138908934	Q8NB49	AT11C_HUMAN	0			2	184	-	C	C	Acute lymphoblastic leukemia(192;0.000127)		Missense_Mutation	29			Cytoplasmic (Potential).			
ATP13A1	57130	broad.mit.edu	GRCh37	19	19756294	19756294	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-02-2485-01	TCGA-02-2485-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357324.6:c.3552G>A	p.Ala1184=	p.A1184=	ENST00000357324	NM_020410.2	1184	gcG/gcA	0			1			T	A	uc002nnh.3	protein_coding	YES	CCDS32970.2			3552/3615									ovary(3)|large_intestine(2)|central_nervous_system(1)	6	c.(3550-3552)GCG>GCA			Superfamily_domains:0049473,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF82,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	ATPase type 13A1				ENSP00000349877		26/26	4.12E-05			0.000219		0.000108			rs773216044,COSM3403996,COSM3403997	26/26	.		ENST00000357324	Transcript			ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	ENSG00000105726	g.chr19:19756294C>T	24215			LOW								--	--	1																																		GMIP_uc002nnd.2_5'Flank|GMIP_uc010xrb.1_5'Flank|GMIP_uc010xrc.1_5'Flank|ATP13A1_uc002nne.2_Silent_p.A324A|ATP13A1_uc002nnf.3_Silent_p.A552A|ATP13A1_uc002nng.2_Silent_p.A1066A	0,1,1	1			p.A1184A	NM_020410	NP_065143			0,1,1	AT131_HUMAN	ATP13A1	HGNC	Q9HD20	AT131_HUMAN			Q8N3E5_HUMAN		26	3580	-			UPI0000126647	1184			Helical; (Potential).		SNV	ATP13A1,synonymous_variant,p.=,ENST00000357324,NM_020410.2;ATP13A1,synonymous_variant,p.=,ENST00000291503,;GMIP,upstream_gene_variant,,ENST00000203556,NM_016573.2;GMIP,upstream_gene_variant,,ENST00000445806,;GMIP,upstream_gene_variant,,ENST00000587238,;GMIP,upstream_gene_variant,,ENST00000587205,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000473243,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000469641,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000497556,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000467160,;GMIP,upstream_gene_variant,,ENST00000588171,;GMIP,upstream_gene_variant,,ENST00000591047,;	uc002nnh.3	c.3552G>A	3579/3861	2	2			c.3552G>A						19	SNP	c.(3550-3552)GCG>GCA	45	45			ovary(3)|large_intestine(2)|central_nervous_system(1)	6	Broad	ATPase type 13A1			19756294		0.647	ENSG00000105726	1098	g.chr19:19756294C>T	ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	Esophageal Squamous(142;920 1789 9047 14684 24777)			Esophageal Squamous(142;920 1789 9047 14684 24777)			13.065452	KEEP	7	0	-1	7	12	7	0	-1	14.38047	7	12	0.238095	1	0	0	0	0	0	0	1	0	--	--		0	T			GMIP_uc002nnd.2_5'Flank|GMIP_uc010xrb.1_5'Flank|GMIP_uc010xrc.1_5'Flank|ATP13A1_uc002nne.2_Silent_p.A324A|ATP13A1_uc002nnf.3_Silent_p.A552A|ATP13A1_uc002nng.2_Silent_p.A1066A	7	GBM-02-2485-TP	p.A1184A	C	CGGCCAGGAGCGCCAGGCAGA	NM_020410	NP_065143	19756294	Q9HD20	AT131_HUMAN	0			26	3580	-	T	T			Silent	1184			Helical; (Potential).			
ATP13A1	0	broad.mit.edu	GRCh37	19	19756301	19756301	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357324.6:c.3545G>C	p.Cys1182Ser	p.C1182S	ENST00000357324	NM_020410.2	1182	tGc/tCc	0			1			G	C/S	uc002nnh.3	protein_coding	YES	CCDS32970.2			3545/3615									ovary(3)|large_intestine(2)|central_nervous_system(1)	6	c.(3544-3546)TGC>TCC			Superfamily_domains:0049473,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF82,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	ATPase type 13A1				ENSP00000349877		26/26									COSM3403998,COSM3403999	26/26	.		ENST00000357324	Transcript			ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	ENSG00000105726	g.chr19:19756301C>G	24215			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=AT131_HUMAN&rb=1169&re=1199&var=C1182S	NA	getma.org/?cm=var&var=hg19,19,19756301,C,G&fts=all	C1182S	--	--	1																																		GMIP_uc002nnd.2_5'Flank|GMIP_uc010xrb.1_5'Flank|GMIP_uc010xrc.1_5'Flank|ATP13A1_uc002nne.2_Missense_Mutation_p.C322S|ATP13A1_uc002nnf.3_Missense_Mutation_p.C550S|ATP13A1_uc002nng.2_Missense_Mutation_p.C1064S	1,1	1		benign(0.003)	p.C1182S	NM_020410	NP_065143		deleterious(0.03)	1,1	AT131_HUMAN	ATP13A1	HGNC	Q9HD20	AT131_HUMAN			Q8N3E5_HUMAN		26	3573	-			UPI0000126647	1182			Helical; (Potential).		SNV	ATP13A1,missense_variant,p.Cys1182Ser,ENST00000357324,NM_020410.2;ATP13A1,missense_variant,p.Cys1064Ser,ENST00000291503,;GMIP,upstream_gene_variant,,ENST00000203556,NM_016573.2;GMIP,upstream_gene_variant,,ENST00000445806,;GMIP,upstream_gene_variant,,ENST00000587238,;GMIP,upstream_gene_variant,,ENST00000587205,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000473243,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000469641,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000497556,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000467160,;GMIP,upstream_gene_variant,,ENST00000588171,;GMIP,upstream_gene_variant,,ENST00000591047,;	uc002nnh.3	c.3545G>C	3572/3861	4	4			c.3545G>C						19	SNP	c.(3544-3546)TGC>TCC	30	30			ovary(3)|large_intestine(2)|central_nervous_system(1)	6	Broad	ATPase type 13A1			19756301		0.647	ENSG00000105726	1098	g.chr19:19756301C>G	ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	Esophageal Squamous(142;920 1789 9047 14684 24777)			Esophageal Squamous(142;920 1789 9047 14684 24777)			2.53016	KEEP	0	2	-1	16	12	0	2	-1	6.764789	16	12	0.083333	1	0	0	0	0	1	0	0	0	--	--		0	G			GMIP_uc002nnd.2_5'Flank|GMIP_uc010xrb.1_5'Flank|GMIP_uc010xrc.1_5'Flank|ATP13A1_uc002nne.2_Missense_Mutation_p.C322S|ATP13A1_uc002nnf.3_Missense_Mutation_p.C550S|ATP13A1_uc002nng.2_Missense_Mutation_p.C1064S	160	GBM-19-1790-TP	p.C1182S	C	GAGCGCCAGGCAGAAGTCCAG	NM_020410	NP_065143	19756301	Q9HD20	AT131_HUMAN	0			26	3573	-	G	G			Missense_Mutation	1182			Helical; (Potential).			
ATP13A1	0	broad.mit.edu	GRCh37	19	19758484	19758484	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-32-1979-01	TCGA-32-1979-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357324.6:c.2717delG	p.Gly906AlafsTer29	p.G906Afs*29	ENST00000357324	NM_020410.2	906	gGc/gc	0			1			-	G/X	uc002nnh.3	protein_coding	YES	CCDS32970.2			2717/3615									ovary(3)|large_intestine(2)|central_nervous_system(1)	6	c.(2716-2718)GGCfs			TIGRFAM_domain:TIGR01657,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF82	ATPase type 13A1				ENSP00000349877		20/26										20/26	.		ENST00000357324	Transcript			ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	ENSG00000105726	g.chr19:19758484delC	24215			HIGH								--	--	1																																		ATP13A1_uc002nne.2_Frame_Shift_Del_p.G46fs|ATP13A1_uc002nnf.3_Frame_Shift_Del_p.G274fs|ATP13A1_uc002nng.2_Frame_Shift_Del_p.G788fs		1			p.G906fs	NM_020410	NP_065143				AT131_HUMAN	ATP13A1	HGNC	Q9HD20	AT131_HUMAN			Q8N3E5_HUMAN		20	2745	-			UPI0000126647	906			Cytoplasmic (Potential).		deletion	ATP13A1,frameshift_variant,p.Gly906AlafsTer29,ENST00000357324,NM_020410.2;ATP13A1,frameshift_variant,p.Gly788AlafsTer29,ENST00000291503,;GMIP,upstream_gene_variant,,ENST00000203556,NM_016573.2;GMIP,upstream_gene_variant,,ENST00000445806,;GMIP,upstream_gene_variant,,ENST00000587238,;GMIP,upstream_gene_variant,,ENST00000587205,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000473243,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000469641,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000497556,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000467160,;ATP13A1,downstream_gene_variant,,ENST00000491221,;GMIP,upstream_gene_variant,,ENST00000588171,;GMIP,upstream_gene_variant,,ENST00000591047,;	uc002nnh.3	c.2717delG	2744/3861	5	5			c.2717delG						19	DEL	c.(2716-2718)GGCfs	57	57			ovary(3)|large_intestine(2)|central_nervous_system(1)	6	Broad	ATPase type 13A1			19758484		0.697	ENSG00000105726	1098	g.chr19:19758484delC	ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	Esophageal Squamous(142;920 1789 9047 14684 24777)			Esophageal Squamous(142;920 1789 9047 14684 24777)																0.46	1	1	0	1	0	0	0	0	0	--	--		0	-			ATP13A1_uc002nne.2_Frame_Shift_Del_p.G46fs|ATP13A1_uc002nnf.3_Frame_Shift_Del_p.G274fs|ATP13A1_uc002nng.2_Frame_Shift_Del_p.G788fs	230	GBM-32-1979-TP	p.G906fs	C	GGCTCTGATGCCACTGTTGCT	NM_020410	NP_065143	19758484	Q9HD20	AT131_HUMAN	0			20	2745	-	-	-			Frame_Shift_Del	906			Cytoplasmic (Potential).			
ATP13A2	23400	broad.mit.edu	GRCh37	1	17316634	17316634	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-1804-01	TCGA-06-1804-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326735.8:c.2400G>A	p.Val800=	p.V800=	ENST00000326735		800	gtG/gtA	0			1			T	V	uc001baa.2	protein_coding	YES	CCDS175.1			2400/3543									skin(2)|ovary(1)|central_nervous_system(1)	4	c.(2398-2400)GTG>GTA			Pfam_domain:PF12710,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF86,TIGRFAM_domain:TIGR01657	ATPase type 13A2 isoform 1				ENSP00000327214		21/29									COSM2152518	21/29	.		ENST00000326735	Transcript	1		ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	ENSG00000159363	g.chr1:17316634C>T	30213			LOW								--	--	1																																		ATP13A2_uc001azz.1_5'Flank|ATP13A2_uc001bab.2_Silent_p.V795V|ATP13A2_uc001bac.2_Silent_p.V795V	1	1			p.V800V	NM_022089	NP_071372			1	AT132_HUMAN	ATP13A2	HGNC	Q9NQ11	AT132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Q8N4D4_HUMAN		21	2590	-		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	UPI0000049724	800			Cytoplasmic (Potential).		SNV	ATP13A2,synonymous_variant,p.=,ENST00000452699,NM_001141973.1,NM_022089.2;ATP13A2,synonymous_variant,p.=,ENST00000326735,;ATP13A2,synonymous_variant,p.=,ENST00000341676,NM_001141974.1;ATP13A2,upstream_gene_variant,,ENST00000502418,;ATP13A2,downstream_gene_variant,,ENST00000503552,;RP1-37C10.3,intron_variant,,ENST00000446261,;ATP13A2,non_coding_transcript_exon_variant,,ENST00000466561,;	uc001baa.2	c.2400G>A	2434/3840	1	1			c.2400G>A						1	SNP	c.(2398-2400)GTG>GTA	10	10			skin(2)|ovary(1)|central_nervous_system(1)	4	Broad	ATPase type 13A2 isoform 1			17316634		0.642	ENSG00000159363	1099	g.chr1:17316634C>T	ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding							94.183639	KEEP	23	25	-1	46	47	23	25	-1	97.152736	46	47	0.324074	1	0	0	0	0	0	0	1	0	--	--		0	T			ATP13A2_uc001azz.1_5'Flank|ATP13A2_uc001bab.2_Silent_p.V795V|ATP13A2_uc001bac.2_Silent_p.V795V	79	GBM-06-1804-TP	p.V800V	C	TAACGCCATTCACGGCTGTGG	NM_022089	NP_071372	17316634	Q9NQ11	AT132_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	21	2590	-	T	T		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	Silent	800			Cytoplasmic (Potential).			
ATP13A3	79572		GRCh37	3	194165469	194165469	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000439040.1:c.1544G>A	p.Arg515Gln	p.R515Q	ENST00000439040		515	cGa/cAa	0																																																																																																																																																																																																																																												
ATP13A4	84239	broad.mit.edu	GRCh37	3	193160209	193160209	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0192-01	TCGA-06-0192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342695.4:c.2289G>A	p.Glu763=	p.E763=	ENST00000342695	NM_032279.2	763	gaG/gaA	0			1			T	E	uc003ftd.2	protein_coding	YES	CCDS3304.2			2289/3591									ovary(2)	2	c.(2287-2289)GAG>GAA			hmmpanther:PTHR24093:SF279,hmmpanther:PTHR24093,Pfam_domain:PF12710,TIGRFAM_domain:TIGR01657	ATPase type 13A4				ENSP00000339182		19/30	1.65E-05		0.000174						rs750367072,COSM3408524	19/30	.		ENST00000342695	Transcript			ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	ENSG00000127249	g.chr3:193160209C>T	25422			LOW								--	--	1																																		ATP13A4_uc003fte.1_Silent_p.E763E|ATP13A4_uc011bsr.1_Silent_p.E234E|ATP13A4_uc010hzi.2_RNA	0,1	1			p.E763E	NM_032279	NP_115655			0,1	AT134_HUMAN	ATP13A4	HGNC	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)			19	2397	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		UPI0000520D50	763			Extracellular (Potential).		SNV	ATP13A4,synonymous_variant,p.=,ENST00000342695,NM_032279.2;ATP13A4,synonymous_variant,p.=,ENST00000392443,;ATP13A4,synonymous_variant,p.=,ENST00000428352,;ATP13A4,synonymous_variant,p.=,ENST00000437904,;ATP13A4,3_prime_UTR_variant,,ENST00000450950,;ATP13A4,non_coding_transcript_exon_variant,,ENST00000490925,;ATP13A4,upstream_gene_variant,,ENST00000474776,;	uc003ftd.2	c.2289G>A	2612/4208	1	1			c.2289G>A						3	SNP	c.(2287-2289)GAG>GAA	16	16			ovary(2)	2	Broad	ATPase type 13A4			193160209		0.433	ENSG00000127249	1101	g.chr3:193160209C>T	ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding							5.539653	KEEP	3	2	-1	22	20	3	2	-1	12.270344	22	20	0.111111	1	0	0	0	0	0	0	1	0	--	--		0	T			ATP13A4_uc003fte.1_Silent_p.E763E|ATP13A4_uc011bsr.1_Silent_p.E234E|ATP13A4_uc010hzi.2_RNA	44	GBM-06-0192-TP	p.E763E	C	TGTGTTTCTTCTCTTCTACTA	NM_032279	NP_115655	193160209	Q4VNC1	AT134_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	19	2397	-	T	T	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		Silent	763			Extracellular (Potential).			
ATP13A4	84239	broad.mit.edu	GRCh37	3	193158372	193158372	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0195-01	TCGA-06-0195-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342695.4:c.2494C>T	p.Leu832=	p.L832=	ENST00000342695	NM_032279.2	832	Ctg/Ttg	0			1			A	L	uc003ftd.2	protein_coding	YES	CCDS3304.2			2494/3591									ovary(2)	2	c.(2494-2496)CTG>TTG			hmmpanther:PTHR24093:SF279,hmmpanther:PTHR24093,Pfam_domain:PF12710,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01657,Superfamily_domains:SSF56784	ATPase type 13A4				ENSP00000339182		21/30									COSM3408523	21/30	.		ENST00000342695	Transcript			ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	ENSG00000127249	g.chr3:193158372G>A	25422			LOW								--	--	1																																		ATP13A4_uc003fte.1_Silent_p.L832L|ATP13A4_uc011bsr.1_Silent_p.L303L|ATP13A4_uc010hzi.2_RNA	1	1			p.L832L	NM_032279	NP_115655			1	AT134_HUMAN	ATP13A4	HGNC	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)			21	2602	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		UPI0000520D50	832			Extracellular (Potential).		SNV	ATP13A4,synonymous_variant,p.=,ENST00000342695,NM_032279.2;ATP13A4,synonymous_variant,p.=,ENST00000392443,;ATP13A4,synonymous_variant,p.=,ENST00000428352,;ATP13A4,synonymous_variant,p.=,ENST00000437904,;ATP13A4,3_prime_UTR_variant,,ENST00000450950,;ATP13A4,non_coding_transcript_exon_variant,,ENST00000490925,;ATP13A4,upstream_gene_variant,,ENST00000474776,;	uc003ftd.2	c.2494C>T	2817/4208	1	1			c.2494C>T						3	SNP	c.(2494-2496)CTG>TTG	55	55			ovary(2)	2	Broad	ATPase type 13A4			193158372		0.458	ENSG00000127249	1101	g.chr3:193158372G>A	ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding							179.551781	KEEP	33	26	-1	30	33	33	26	-1	179.604245	30	33	0.524272	1	0	0	0	0	0	0	1	0	--	--		0	A			ATP13A4_uc003fte.1_Silent_p.L832L|ATP13A4_uc011bsr.1_Silent_p.L303L|ATP13A4_uc010hzi.2_RNA	45	GBM-06-0195-TP	p.L832L	G	TCTTCCACCAGACTGGACTTC	NM_032279	NP_115655	193158372	Q4VNC1	AT134_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	21	2602	-	A	A	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		Silent	832			Extracellular (Potential).			
ATP1A1	0	broad.mit.edu	GRCh37	1	116943788	116943788	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295598.5:c.2755C>T	p.His919Tyr	p.H919Y	ENST00000295598	NM_000701.7	919	Cac/Tac	0			1			T	H/Y	uc001ege.2	protein_coding		CCDS887.1			2755/3072									ovary(1)	1	c.(2755-2757)CAC>TAC			Superfamily_domains:0049473,Gene3D:1.20.1110.10,Pfam_domain:PF00689,Prints_domain:PR00121,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF222,TIGRFAM_domain:TIGR01106,Transmembrane_helices:TMhelix	Na+/K+ -ATPase alpha 1 subunit isoform a	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)			ENSP00000295598		20/23									COSM3399576	20/23	.		ENST00000295598	Transcript			ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	ENSG00000163399	g.chr1:116943788C>T	799			MODERATE		1.41	low	getma.org/?cm=msa&ty=f&p=AT1A1_HUMAN&rb=799&re=1008&var=H919Y	getma.org/pdb.php?prot=AT1A1_HUMAN&from=799&to=1008&var=H919Y	getma.org/?cm=var&var=hg19,1,116943788,C,T&fts=all	H919Y	--	--	1																																		ATP1A1_uc010owv.1_Missense_Mutation_p.H888Y|ATP1A1_uc010oww.1_Missense_Mutation_p.H919Y|ATP1A1_uc010owx.1_Missense_Mutation_p.H888Y|C1orf203_uc009whb.2_Intron|C1orf203_uc001egg.3_Intron|ATP1A1_uc001egh.2_Missense_Mutation_p.H61Y	1			probably_damaging(0.975)	p.H919Y	NM_000701	NP_000692		tolerated(0.54)	1	AT1A1_HUMAN	ATP1A1	HGNC	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Q5TC02_HUMAN,Q5TC01_HUMAN		20	3094	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	UPI0000124FBB	919			Helical; (Potential).		SNV	ATP1A1,missense_variant,p.His919Tyr,ENST00000537345,NM_001160233.1;ATP1A1,missense_variant,p.His919Tyr,ENST00000295598,NM_000701.7;ATP1A1,missense_variant,p.His888Tyr,ENST00000369496,NM_001160234.1;ATP1A1,missense_variant,p.His86Tyr,ENST00000440951,;ATP1A1OS,downstream_gene_variant,,ENST00000369492,;ATP1A1OS,downstream_gene_variant,,ENST00000369491,;ATP1A1,non_coding_transcript_exon_variant,,ENST00000479960,;ATP1A1OS,intron_variant,,ENST00000608511,;ATP1A1OS,intron_variant,,ENST00000493908,;ATP1A1,upstream_gene_variant,,ENST00000495965,;	uc001ege.2	c.2755C>T	3007/3654	1	1			c.2755C>T						1	SNP	c.(2755-2757)CAC>TAC	3	3			ovary(1)	1	Broad	Na+/K+ -ATPase alpha 1 subunit isoform a		Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	116943788		0.532	ENSG00000163399	1103	g.chr1:116943788C>T	ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity							-8.637198	KEEP	3	0	-1	49	43	3	0	-1	6.494456	49	43	0.044118	1	0	0	0	0	1	0	0	0	--	--		0	T			ATP1A1_uc010owv.1_Missense_Mutation_p.H888Y|ATP1A1_uc010oww.1_Missense_Mutation_p.H919Y|ATP1A1_uc010owx.1_Missense_Mutation_p.H888Y|C1orf203_uc009whb.2_Intron|C1orf203_uc001egg.3_Intron|ATP1A1_uc001egh.2_Missense_Mutation_p.H61Y	229	GBM-32-1977-TP	p.H919Y	C	GTTCACCTGCCACACAGCCTT	NM_000701	NP_000692	116943788	P05023	AT1A1_HUMAN	0		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	20	3094	+	T	T	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	Missense_Mutation	919			Helical; (Potential).			
ATP1A2	477	broad.mit.edu	GRCh37	1	160106156	160106156	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0747-01	TCGA-06-0747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361216.3:c.2559G>C	p.Gln853His	p.Q853H	ENST00000361216	NM_000702.3	853	caG/caC	0			1			C	Q/H	uc001fvc.2	protein_coding	YES	CCDS1196.1			2559/3063									central_nervous_system(3)|ovary(2)|skin(2)	7	c.(2557-2559)CAG>CAC			Superfamily_domains:0049473,Gene3D:1.20.1110.10,Pfam_domain:PF00689,Prints_domain:PR00121,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF229,TIGRFAM_domain:TIGR01106	Na+/K+ -ATPase alpha 2 subunit proprotein				ENSP00000354490		18/23									COSM2151829	18/23	.		ENST00000361216	Transcript	1		ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	ENSG00000018625	g.chr1:160106156G>C	800			MODERATE		2.295	medium	getma.org/?cm=msa&ty=f&p=AT1A2_HUMAN&rb=796&re=1005&var=Q853H	getma.org/pdb.php?prot=AT1A2_HUMAN&from=796&to=1005&var=Q853H	getma.org/?cm=var&var=hg19,1,160106156,G,C&fts=all	Q853H	--	--	1																																		ATP1A2_uc001fvb.2_Missense_Mutation_p.Q853H|ATP1A2_uc001fvd.2_Missense_Mutation_p.Q589H	1	1		benign(0.266)	p.Q853H	NM_000702	NP_000693		tolerated(0.13)	1	AT1A2_HUMAN	ATP1A2	HGNC	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		Q58I22_HUMAN		18	2691	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		UPI0000124FC1	853			Helical; (Potential).		SNV	ATP1A2,missense_variant,p.Gln853His,ENST00000361216,NM_000702.3;ATP1A2,missense_variant,p.Gln564His,ENST00000447527,;ATP1A2,missense_variant,p.Gln853His,ENST00000392233,;ATP1A2,upstream_gene_variant,,ENST00000459972,;ATP1A2,non_coding_transcript_exon_variant,,ENST00000472488,;ATP1A2,upstream_gene_variant,,ENST00000463989,;	uc001fvc.2	c.2559G>C	2648/5421	3	3			c.2559G>C						1	SNP	c.(2557-2559)CAG>CAC	16	16			central_nervous_system(3)|ovary(2)|skin(2)	7	Broad	Na+/K+ -ATPase alpha 2 subunit proprotein			160106156		0.577	ENSG00000018625	1104	g.chr1:160106156G>C	ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity							143.000812	KEEP	25	22	-1	43	38	25	22	-1	144.508433	43	38	0.377193	1	0	0	0	0	1	0	0	0	--	--		0	C			ATP1A2_uc001fvb.2_Missense_Mutation_p.Q853H|ATP1A2_uc001fvd.2_Missense_Mutation_p.Q589H	68	GBM-06-0747-TP	p.Q853H	G	CCTACGGACAGATCGGTGCGC	NM_000702	NP_000693	160106156	P50993	AT1A2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		18	2691	+	C	C	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		Missense_Mutation	853			Helical; (Potential).			
ATP1A2	0	broad.mit.edu	GRCh37	1	160106465	160106465	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01	TCGA-06-6695-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361216.3:c.2669G>A	p.Arg890Gln	p.R890Q	ENST00000361216	NM_000702.3	890	cGg/cAg	0			1			A	R/Q	uc001fvc.2	protein_coding	YES	CCDS1196.1			2669/3063									central_nervous_system(3)|ovary(2)|skin(2)	7	c.(2668-2670)CGG>CAG			Superfamily_domains:0049473,Gene3D:1.20.1110.10,Pfam_domain:PF00689,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF229,TIGRFAM_domain:TIGR01106	Na+/K+ -ATPase alpha 2 subunit proprotein				ENSP00000354490		19/23									COSM3369371	19/23	.		ENST00000361216	Transcript	1		ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	ENSG00000018625	g.chr1:160106465G>A	800			MODERATE		1.38	low	getma.org/?cm=msa&ty=f&p=AT1A2_HUMAN&rb=796&re=1005&var=R890Q	getma.org/pdb.php?prot=AT1A2_HUMAN&from=796&to=1005&var=R890Q	getma.org/?cm=var&var=hg19,1,160106465,G,A&fts=all	R890Q	--	--	1																																		ATP1A2_uc001fvb.2_Missense_Mutation_p.R890Q|ATP1A2_uc001fvd.2_Missense_Mutation_p.R609Q	1	1		benign(0.023)	p.R890Q	NM_000702	NP_000693		tolerated(0.2)	1	AT1A2_HUMAN	ATP1A2	HGNC	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		Q58I22_HUMAN		19	2801	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		UPI0000124FC1	890			Extracellular (Potential).		SNV	ATP1A2,missense_variant,p.Arg890Gln,ENST00000361216,NM_000702.3;ATP1A2,missense_variant,p.Arg584Gln,ENST00000447527,;ATP1A2,missense_variant,p.Arg890Gln,ENST00000392233,;ATP1A2,upstream_gene_variant,,ENST00000459972,;ATP1A2,non_coding_transcript_exon_variant,,ENST00000472488,;ATP1A2,non_coding_transcript_exon_variant,,ENST00000463989,;	uc001fvc.2	c.2669G>A	2758/5421	2	2			c.2669G>A						1	SNP	c.(2668-2670)CGG>CAG	28	28			central_nervous_system(3)|ovary(2)|skin(2)	7	Broad	Na+/K+ -ATPase alpha 2 subunit proprotein			160106465		0.552	ENSG00000018625	1104	g.chr1:160106465G>A	ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity							-5.646065	KEEP	3	1	-1	42	36	3	1	-1	8.754266	42	36	0.057143	1	0	0	0	0	1	0	0	0	--	--		0	A			ATP1A2_uc001fvb.2_Missense_Mutation_p.R890Q|ATP1A2_uc001fvd.2_Missense_Mutation_p.R609Q	110	GBM-06-6695-TP	p.R890Q	G	TGGGATGACCGGACCATGAAT	NM_000702	NP_000693	160106465	P50993	AT1A2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		19	2801	+	A	A	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		Missense_Mutation	890			Extracellular (Potential).			
ATP1A3	0	broad.mit.edu	GRCh37	19	42489240	42489240	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01	TCGA-41-5651-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302102.5:c.823G>A	p.Ala275Thr	p.A275T	ENST00000302102	NM_152296.4	275	Gcc/Acc	0			1			T	A/T	uc002osg.2	protein_coding		CCDS12594.1			823/3042									ovary(1)|pancreas(1)	2	c.(823-825)GCC>ACC			Superfamily_domains:0049473,Pfam_domain:PF00122,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF259,TIGRFAM_domain:TIGR01106,TIGRFAM_domain:TIGR01494	Na+/K+ -ATPase alpha 3 subunit				ENSP00000302397		23-Aug									COSM3404283	23-Aug	.		ENST00000302102	Transcript	1		ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	ENSG00000105409	g.chr19:42489240C>T	801			MODERATE		1.4	low	getma.org/?cm=msa&ty=f&p=AT1A3_HUMAN&rb=125&re=356&var=A275T	getma.org/pdb.php?prot=AT1A3_HUMAN&from=125&to=356&var=A275T	getma.org/?cm=var&var=hg19,19,42489240,C,T&fts=all	A275T	--	--	1																																		ATP1A3_uc010xwf.1_Missense_Mutation_p.A286T|ATP1A3_uc010xwg.1_Missense_Mutation_p.A245T|ATP1A3_uc010xwh.1_Missense_Mutation_p.A288T|ATP1A3_uc002osh.2_Missense_Mutation_p.A275T	1			probably_damaging(0.943)	p.A275T	NM_152296	NP_689509		deleterious(0.03)	1	AT1A3_HUMAN	ATP1A3	HGNC	P13637	AT1A3_HUMAN			Q58I21_HUMAN,M0R116_HUMAN,M0QXF2_HUMAN		8	977	-			UPI000013E791	275			Cytoplasmic (Potential).		SNV	ATP1A3,missense_variant,p.Ala288Thr,ENST00000545399,NM_001256214.1;ATP1A3,missense_variant,p.Ala275Thr,ENST00000302102,NM_152296.4;ATP1A3,missense_variant,p.Ala286Thr,ENST00000543770,NM_001256213.1;ATP1A3,missense_variant,p.Ala245Thr,ENST00000602133,;ATP1A3,downstream_gene_variant,,ENST00000473086,;ATP1A3,downstream_gene_variant,,ENST00000468774,;ATP1A3,downstream_gene_variant,,ENST00000465007,;ATP1A3,missense_variant,p.Ala275Thr,ENST00000441343,;ATP1A3,non_coding_transcript_exon_variant,,ENST00000485672,;	uc002osg.2	c.823G>A	974/3548	1	1			c.823G>A						19	SNP	c.(823-825)GCC>ACC	9	9			ovary(1)|pancreas(1)	2	Broad	Na+/K+ -ATPase alpha 3 subunit			42489240		0.632	ENSG00000105409	1105	g.chr19:42489240C>T	ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity							13.101924	KEEP	2	2	-1	1	1	2	2	-1	13.249611	1	1	0.666667	1	0	0	0	0	1	0	0	0	--	--		0	T			ATP1A3_uc010xwf.1_Missense_Mutation_p.A286T|ATP1A3_uc010xwg.1_Missense_Mutation_p.A245T|ATP1A3_uc010xwh.1_Missense_Mutation_p.A288T|ATP1A3_uc002osh.2_Missense_Mutation_p.A275T	258	GBM-41-5651-TP	p.A275T	C	ATCTCGATGGCGATGGGCGTC	NM_152296	NP_689509	42489240	P13637	AT1A3_HUMAN	0			8	977	-	T	T			Missense_Mutation	275			Cytoplasmic (Potential).			
ATP1A4	480	broad.mit.edu	GRCh37	1	160144388	160144388	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0152-01	TCGA-06-0152-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368081.4:c.2162C>A	p.Thr721Lys	p.T721K	ENST00000368081	NM_144699.3	721	aCa/aAa	0			1			A	T/K	uc001fve.3	protein_coding	YES	CCDS1197.1			2162/3090									ovary(2)|skin(2)	4	c.(2161-2163)ACA>AAA			Gene3D:1.20.1110.10,Pfam_domain:PF00702,Prints_domain:PR00119,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF233,Superfamily_domains:SSF56784,TIGRFAM_domain:TIGR01106,TIGRFAM_domain:TIGR01494	Na+/K+ -ATPase alpha 4 subunit isoform 1				ENSP00000357060		15/22									COSM3399884	15/22	.		ENST00000368081	Transcript			ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	ENSG00000132681	g.chr1:160144388C>A	14073			MODERATE		4.45	high	getma.org/?cm=msa&ty=f&p=AT1A4_HUMAN&rb=378&re=735&var=T721K	getma.org/pdb.php?prot=AT1A4_HUMAN&from=378&to=735&var=T721K	getma.org/?cm=var&var=hg19,1,160144388,C,A&fts=all	T721K	--	--	1																																		ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.T224K|ATP1A4_uc001fvh.2_5'Flank	1	1		probably_damaging(1)	p.T721K	NM_144699	NP_653300		deleterious(0)	1	AT1A4_HUMAN	ATP1A4	HGNC	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		Q13818_HUMAN		15	2641	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		UPI0000124FC5	721			Cytoplasmic (Potential).		SNV	ATP1A4,missense_variant,p.Thr721Lys,ENST00000368081,NM_144699.3;ATP1A4,upstream_gene_variant,,ENST00000470705,NM_001001734.1;ATP1A4,non_coding_transcript_exon_variant,,ENST00000418334,;ATP1A4,upstream_gene_variant,,ENST00000466526,;ATP1A4,3_prime_UTR_variant,,ENST00000477338,;ATP1A4,non_coding_transcript_exon_variant,,ENST00000469023,;	uc001fve.3	c.2162C>A	2633/3839	2	2			c.2162C>A						1	SNP	c.(2161-2163)ACA>AAA	28	28			ovary(2)|skin(2)	4	Broad	Na+/K+ -ATPase alpha 4 subunit isoform 1			160144388		0.542	ENSG00000132681	1106	g.chr1:160144388C>A	ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity							23.053588	KEEP	8	4	0.333333333	39	45	8	4	0.333333333	30.63977	39	45	0.166667	1	0	0	0	0	1	0	0	0	--	--		0	A			ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.T224K|ATP1A4_uc001fvh.2_5'Flank	25	GBM-06-0152-TP	p.T721K	C	GTGGCCGTGACAGGTGACGGG	NM_144699	NP_653300	160144388	Q13733	AT1A4_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.111)		15	2641	+	A	A	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		Missense_Mutation	721			Cytoplasmic (Potential).			
ATP2A1	0	broad.mit.edu	GRCh37	16	28914740	28914740	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357084.3:c.2959G>A	p.Val987Ile	p.V987I	ENST00000357084	NM_173201.3	987	Gtt/Att	0		C:0	1	C:0		A	V/I	uc002dro.1	protein_coding	YES	CCDS10643.1			2959/3006									ovary(2)|central_nervous_system(1)|pancreas(1)	4	c.(2959-2961)GTT>ATT			Superfamily_domains:0049473,Gene3D:1.20.1110.10,Pfam_domain:PF00689,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF215	ATPase, Ca++ transporting, fast twitch 1 isoform		C:0.001		ENSP00000349595	C:0	21/22	8.24E-06							6.06E-05	rs200445830,COSM3402249	21/22	.		ENST00000357084	Transcript	1	C:0.0002	apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	ENSG00000196296	g.chr16:28914740G>A	811			MODERATE		-0.64	neutral	getma.org/?cm=msa&ty=f&p=AT2A1_HUMAN&rb=784&re=987&var=V987I	getma.org/pdb.php?prot=AT2A1_HUMAN&from=784&to=987&var=V987I	getma.org/?cm=var&var=hg19,16,28914740,G,A&fts=all	V987I	--	--	1																																		uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.V987I|ATP2A1_uc002drp.1_Missense_Mutation_p.V862I	0,1	1		benign(0.006)	p.V987I	NM_173201	NP_775293	C:0	tolerated(0.6)	0,1	AT2A1_HUMAN	ATP2A1	HGNC	O14983	AT2A1_HUMAN			H3BUU3_HUMAN		21	3143	+			UPI000003B461	987			Cytoplasmic (By similarity).		SNV	ATP2A1,missense_variant,p.Val987Ile,ENST00000395503,NM_004320.4;ATP2A1,missense_variant,p.Val987Ile,ENST00000357084,NM_173201.3;ATP2A1,missense_variant,p.Val862Ile,ENST00000536376,NM_001286075.1;ATP2A1,missense_variant,p.Val17Ile,ENST00000564112,;RABEP2,downstream_gene_variant,,ENST00000358201,NM_024816.2;RABEP2,downstream_gene_variant,,ENST00000357573,;RABEP2,downstream_gene_variant,,ENST00000544477,;ATP2A1,downstream_gene_variant,,ENST00000564732,;	uc002dro.1	c.2959G>A	3226/3532	2	2			c.2959G>A						16	SNP	c.(2959-2961)GTT>ATT	26	26			ovary(2)|central_nervous_system(1)|pancreas(1)	4	Broad	ATPase, Ca++ transporting, fast twitch 1 isoform			28914740		0.522	ENSG00000196296	1111	g.chr16:28914740G>A	apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity							41.578164	KEEP	6	12	-1	23	23	6	12	-1	43.885091	23	23	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	A			uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.V987I|ATP2A1_uc002drp.1_Missense_Mutation_p.V862I	270	GBM-76-4931-TP	p.V987I	G	CCTCAAGTTCGTTGCTCGGAA	NM_173201	NP_775293	28914740	O14983	AT2A1_HUMAN	0			21	3143	+	A	A			Missense_Mutation	987			Cytoplasmic (By similarity).			
ATP2A3	489	broad.mit.edu	GRCh37	17	3850757	3850757	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-0188-01	TCGA-06-0188-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359983.3:c.1023C>A	p.Thr341=	p.T341=	ENST00000359983		341	acC/acA	0			1			T	T	uc002fxb.1	protein_coding		CCDS11041.1			1023/3132									ovary(3)|breast(1)|central_nervous_system(1)	5	c.(1021-1023)ACC>ACA			Superfamily_domains:0049473,TIGRFAM_domain:TIGR01116,TIGRFAM_domain:TIGR01494,Gene3D:3.40.1110.10,Pfam_domain:PF00122,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF280	ATPase, Ca++ transporting, ubiquitous isoform b				ENSP00000301387		22-Aug	8.24E-06					1.51E-05			rs768922567,COSM2150610,COSM2150611	22-Aug	.		ENST00000352011	Transcript			ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	ENSG00000074370	g.chr17:3850757G>T	813			LOW								--	--	1																																		ATP2A3_uc002fwx.1_Silent_p.T341T|ATP2A3_uc002fwy.1_Silent_p.T341T|ATP2A3_uc002fwz.1_Silent_p.T341T|ATP2A3_uc002fxa.1_Silent_p.T341T|ATP2A3_uc002fxc.1_Silent_p.T341T|ATP2A3_uc002fxd.1_Silent_p.T341T	0,1,1				p.T341T	NM_174955	NP_777615			0,1,1	AT2A3_HUMAN	ATP2A3	HGNC	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)			8	1174	-			UPI00001261E5	341			Cytoplasmic (By similarity).		SNV	ATP2A3,synonymous_variant,p.=,ENST00000309890,NM_174954.2,NM_174953.2,NM_174955.2,NM_174956.2;ATP2A3,synonymous_variant,p.=,ENST00000397041,NM_005173.3,NM_174957.2;ATP2A3,synonymous_variant,p.=,ENST00000397035,NM_174958.2;ATP2A3,synonymous_variant,p.=,ENST00000359983,;ATP2A3,synonymous_variant,p.=,ENST00000352011,;ATP2A3,synonymous_variant,p.=,ENST00000397043,;ATP2A3,5_prime_UTR_variant,,ENST00000397039,;ATP2A3,upstream_gene_variant,,ENST00000572694,;	uc002fxb.1	c.1023C>A	1078/3274	2	2			c.1023C>A						17	SNP	c.(1021-1023)ACC>ACA	41	41			ovary(3)|breast(1)|central_nervous_system(1)	5	Broad	ATPase, Ca++ transporting, ubiquitous isoform b			3850757		0.647	ENSG00000074370	1113	g.chr17:3850757G>T	ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	GBM(32;29 774 15719 37967)			GBM(32;29 774 15719 37967)			99.551669	KEEP	18	20	0.473684211	21	32	18	20	0.473684211	99.882073	21	32	0.43038	1	0	0	0	0	0	0	1	0	--	--		0	T			ATP2A3_uc002fwx.1_Silent_p.T341T|ATP2A3_uc002fwy.1_Silent_p.T341T|ATP2A3_uc002fwz.1_Silent_p.T341T|ATP2A3_uc002fxa.1_Silent_p.T341T|ATP2A3_uc002fxc.1_Silent_p.T341T|ATP2A3_uc002fxd.1_Silent_p.T341T	41	GBM-06-0188-TP	p.T341T	G	TGCAGCCCAGGGTCTCCACGG	NM_174955	NP_777615	3850757	Q93084	AT2A3_HUMAN	0		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	8	1174	-	T	T			Silent	341			Cytoplasmic (By similarity).			
ATP2A3	0	broad.mit.edu	GRCh37	17	3840720	3840720	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000352011.3:c.2311G>A	p.Glu771Lys	p.E771K	ENST00000352011		771	Gag/Aag	0			1			T	E/K	uc002fxb.1	protein_coding		CCDS11041.1			2311/3132									ovary(3)|breast(1)|central_nervous_system(1)	5	c.(2311-2313)GAG>AAG			Transmembrane_helices:TMhelix,Superfamily_domains:0049473,TIGRFAM_domain:TIGR01116,TIGRFAM_domain:TIGR01494,Gene3D:1.20.1110.10,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF280	ATPase, Ca++ transporting, ubiquitous isoform b				ENSP00000301387		15/22									COSM3402841,COSM3402842	15/22	.		ENST00000352011	Transcript			ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	ENSG00000074370	g.chr17:3840720C>T	813			MODERATE		4.41	high	getma.org/?cm=msa&ty=f&p=AT2A3_HUMAN&rb=716&re=783&var=E771K	getma.org/pdb.php?prot=AT2A3_HUMAN&from=716&to=783&var=E771K	getma.org/?cm=var&var=hg19,17,3840720,C,T&fts=all	E771K	--	--	1																																		ATP2A3_uc002fwx.1_Missense_Mutation_p.E771K|ATP2A3_uc002fwy.1_Missense_Mutation_p.E771K|ATP2A3_uc002fwz.1_Missense_Mutation_p.E771K|ATP2A3_uc002fxa.1_Missense_Mutation_p.E771K|ATP2A3_uc002fxc.1_Missense_Mutation_p.E771K|ATP2A3_uc002fxd.1_Missense_Mutation_p.E771K	1,1			probably_damaging(1)	p.E771K	NM_174955	NP_777615		deleterious(0)	1,1	AT2A3_HUMAN	ATP2A3	HGNC	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)			15	2462	-			UPI00001261E5	771			Helical; Name=5; (By similarity).	Calcium 1 (By similarity).	SNV	ATP2A3,missense_variant,p.Glu771Lys,ENST00000309890,NM_174954.2,NM_174953.2,NM_174955.2,NM_174956.2;ATP2A3,missense_variant,p.Glu771Lys,ENST00000397041,NM_005173.3,NM_174957.2;ATP2A3,missense_variant,p.Glu771Lys,ENST00000397035,NM_174958.2;ATP2A3,missense_variant,p.Glu771Lys,ENST00000359983,;ATP2A3,missense_variant,p.Glu771Lys,ENST00000352011,;ATP2A3,missense_variant,p.Glu771Lys,ENST00000397043,;ATP2A3,5_prime_UTR_variant,,ENST00000397039,;ATP2A3,upstream_gene_variant,,ENST00000576957,;ATP2A3,downstream_gene_variant,,ENST00000572694,;ATP2A3,upstream_gene_variant,,ENST00000572176,;	uc002fxb.1	c.2311G>A	2366/3274	2	2			c.2311G>A						17	SNP	c.(2311-2313)GAG>AAG	26	26			ovary(3)|breast(1)|central_nervous_system(1)	5	Broad	ATPase, Ca++ transporting, ubiquitous isoform b			3840720		0.602	ENSG00000074370	1113	g.chr17:3840720C>T	ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	GBM(32;29 774 15719 37967)			GBM(32;29 774 15719 37967)			46.026316	KEEP	10	9	-1	25	21	10	9	-1	48.468146	25	21	0.290323	1	0	0	0	0	1	0	0	0	--	--		0	T			ATP2A3_uc002fwx.1_Missense_Mutation_p.E771K|ATP2A3_uc002fwy.1_Missense_Mutation_p.E771K|ATP2A3_uc002fwz.1_Missense_Mutation_p.E771K|ATP2A3_uc002fxa.1_Missense_Mutation_p.E771K|ATP2A3_uc002fxc.1_Missense_Mutation_p.E771K|ATP2A3_uc002fxd.1_Missense_Mutation_p.E771K	218	GBM-28-5209-TP	p.E771K	C	CAGACGACCTCGCCAACATTG	NM_174955	NP_777615	3840720	Q93084	AT2A3_HUMAN	0		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	15	2462	-	T	T			Missense_Mutation	771			Helical; Name=5; (By similarity).	Calcium 1 (By similarity).		
ATP2A3	489		GRCh37	17	3851127	3851127	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000359983.3:c.653A>T	p.Lys218Ile	p.K218I	ENST00000359983		218	aAa/aTa	0																																																																																																																																																																																																																																												
ATP2B1	0	broad.mit.edu	GRCh37	12	90024361	90024361	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-14-3476-01	TCGA-14-3476-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428670.3:c.849A>G	p.Gln283=	p.Q283=	ENST00000428670		283	caA/caG	0			1			C	Q	uc001tbh.2	protein_coding	YES	CCDS9035.1			849/3663									ovary(2)|central_nervous_system(1)	3	c.(847-849)CAA>CAG			Superfamily_domains:0049471,Gene3D:2.70.150.10,Pfam_domain:PF00122,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF245,TIGRFAM_domain:TIGR01494	plasma membrane calcium ATPase 1 isoform 1b				ENSP00000392043		21-Jun									COSM3399168,COSM3399169	21-Jun	.		ENST00000428670	Transcript			ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	ENSG00000070961	g.chr12:90024361T>C	814			LOW								--	--	1																																		ATP2B1_uc001tbg.2_Silent_p.Q283Q	1,1	1			p.Q283Q	NM_001682	NP_001673			1,1	AT2B1_HUMAN	ATP2B1	HGNC	P20020	AT2B1_HUMAN			Q3L582_HUMAN		5	1030	-			UPI000002A436	283			Cytoplasmic (Potential).		SNV	ATP2B1,synonymous_variant,p.=,ENST00000428670,;ATP2B1,synonymous_variant,p.=,ENST00000359142,NM_001001323.1;ATP2B1,synonymous_variant,p.=,ENST00000261173,NM_001682.2;ATP2B1,synonymous_variant,p.=,ENST00000348959,;ATP2B1,synonymous_variant,p.=,ENST00000393164,;	uc001tbh.2	c.849A>G	1306/7032	4	4			c.849A>G						12	SNP	c.(847-849)CAA>CAG	33	33			ovary(2)|central_nervous_system(1)	3	Broad	plasma membrane calcium ATPase 1 isoform 1b			90024361		0.244	ENSG00000070961	1114	g.chr12:90024361T>C	ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding							124.439082	KEEP	16	24	-1	37	56	16	24	-1	127.682076	37	56	0.321739	1	0	0	0	0	0	0	1	0	--	--		0	C			ATP2B1_uc001tbg.2_Silent_p.Q283Q	151	GBM-14-3476-TP	p.Q283Q	T	TAATTCCAGTTTGAGAATTTA	NM_001682	NP_001673	90024361	P20020	AT2B1_HUMAN	0			5	1030	-	C	C			Silent	283			Cytoplasmic (Potential).			
ATP2B2	491	broad.mit.edu	GRCh37	3	10491052	10491052	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149328739		TCGA-02-2483-01	TCGA-02-2483-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360273.2:c.176G>A	p.Arg59His	p.R59H	ENST00000360273	NM_001001331.2	59	cGc/cAc	0	T:0.0002	T:0	1	T:0		T	R/H	uc003bvt.2	protein_coding		CCDS33701.1			176/3732								p.R59C(1)	ovary(3)|skin(2)|central_nervous_system(1)	6	c.(175-177)CGC>CAC			Superfamily_domains:0049473,Gene3D:2.70.150.10,Pfam_domain:PF00690,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF247,SMART_domains:SM00831	plasma membrane calcium ATPase 2 isoform 1		T:0	T:0.0001	ENSP00000324172	T:0	22-Jan	8.24E-05	0.000192	8.65E-05			6.00E-05		0.000121	rs149328739,COSM1536069,COSM1536068	22-Jan	.		ENST00000352432	Transcript		T:0.0002	ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	ENSG00000157087	g.chr3:10491052C>T	815			MODERATE		2.075	medium	getma.org/?cm=msa&ty=f&p=AT2B2_HUMAN&rb=48&re=118&var=R59H	NA	getma.org/?cm=var&var=hg19,3,10491052,C,T&fts=all	R59H	--	--	1																																		ATP2B2_uc003bvv.2_Missense_Mutation_p.R59H|ATP2B2_uc003bvw.2_Missense_Mutation_p.R59H|ATP2B2_uc010hdp.2_Missense_Mutation_p.R59H	0,1,1			benign(0.009)	p.R59H	NM_001001331	NP_001001331	T:0.001	deleterious(0.04)	0,1,1	AT2B2_HUMAN	ATP2B2	HGNC	Q01814	AT2B2_HUMAN			Q4J699_HUMAN,Q4J696_HUMAN		2	615	-			UPI00001261EF	59			Cytoplasmic (Potential).		SNV	ATP2B2,missense_variant,p.Arg59His,ENST00000397077,;ATP2B2,missense_variant,p.Arg59His,ENST00000360273,NM_001001331.2;ATP2B2,missense_variant,p.Arg59His,ENST00000343816,;ATP2B2,missense_variant,p.Arg59His,ENST00000383800,NM_001683.3;ATP2B2,missense_variant,p.Arg59His,ENST00000352432,;ATP2B2,missense_variant,p.Arg59His,ENST00000460129,;ATP2B2,non_coding_transcript_exon_variant,,ENST00000480680,;	uc003bvt.2	c.176G>A	246/8593	1	1			c.176G>A						3	SNP	c.(175-177)CGC>CAC	9	9		p.R59C(1)	ovary(3)|skin(2)|central_nervous_system(1)	6	Broad	plasma membrane calcium ATPase 2 isoform 1			10491052		0.562	ENSG00000157087	1115	g.chr3:10491052C>T	ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	Ovarian(125;1619 1709 15675 19819 38835)			Ovarian(125;1619 1709 15675 19819 38835)			-8.829875	KEEP	0	5	-1	35	44	0	5	-1	7.21552	35	44	0.052632	1	0	0	0	0	1	0	0	0	--	--		0	T			ATP2B2_uc003bvv.2_Missense_Mutation_p.R59H|ATP2B2_uc003bvw.2_Missense_Mutation_p.R59H|ATP2B2_uc010hdp.2_Missense_Mutation_p.R59H	6	GBM-02-2483-TP	p.R59H	C	GGTTTTGAGGCGCCGGCAGAT	NM_001001331	NP_001001331	10491052	Q01814	AT2B2_HUMAN	0			2	615	-	T	T			Missense_Mutation	59			Cytoplasmic (Potential).			
ATP2B2	491	broad.mit.edu	GRCh37	3	10413514	10413514	+	synonymous_variant	Silent	SNP	G	G	A	rs148841263	byFrequency;by1000genomes	TCGA-06-0747-01	TCGA-06-0747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360273.2:c.1638C>T	p.Ser546=	p.S546=	ENST00000360273	NM_001001331.2	546	agC/agT	0	A:0.0036	A:0.0053	1	A:0		A	S	uc003bvt.2	protein_coding		CCDS33701.1			1638/3732									ovary(3)|skin(2)|central_nervous_system(1)	6	c.(1636-1638)AGC>AGT			Gene3D:3.40.1110.10,Pfam_domain:PF00702,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF247,Superfamily_domains:SSF81660,TIGRFAM_domain:TIGR01517	plasma membrane calcium ATPase 2 isoform 1		A:0	A:0.0001	ENSP00000324172	A:0	22-Nov	0.00028	0.00231	0.000259			8.99E-05		6.06E-05	rs148841263,COSM2151852,COSM2151851	22-Nov	common_variant		ENST00000352432	Transcript		A:0.0014	ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	ENSG00000157087	g.chr3:10413514G>A	815			LOW								--	--	1																																		ATP2B2_uc003bvv.2_Silent_p.S501S|ATP2B2_uc003bvw.2_Silent_p.S501S|ATP2B2_uc010hdo.2_Silent_p.S251S	0,1,1				p.S546S	NM_001001331	NP_001001331	A:0		0,1,1	AT2B2_HUMAN	ATP2B2	HGNC	Q01814	AT2B2_HUMAN			Q4J699_HUMAN,Q4J696_HUMAN		12	2077	-			UPI00001261EF	546			Cytoplasmic (Potential).		SNV	ATP2B2,synonymous_variant,p.=,ENST00000397077,;ATP2B2,synonymous_variant,p.=,ENST00000360273,NM_001001331.2;ATP2B2,synonymous_variant,p.=,ENST00000343816,;ATP2B2,synonymous_variant,p.=,ENST00000383800,NM_001683.3;ATP2B2,synonymous_variant,p.=,ENST00000352432,;ATP2B2,synonymous_variant,p.=,ENST00000452124,;ATP2B2,synonymous_variant,p.=,ENST00000460129,;	uc003bvt.2	c.1638C>T	1708/8593	2	2			c.1638C>T						3	SNP	c.(1636-1638)AGC>AGT	45	45			ovary(3)|skin(2)|central_nervous_system(1)	6	Broad	plasma membrane calcium ATPase 2 isoform 1			10413514		0.547	ENSG00000157087	1115	g.chr3:10413514G>A	ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	Ovarian(125;1619 1709 15675 19819 38835)			Ovarian(125;1619 1709 15675 19819 38835)			117.845664	KEEP	28	11	-1	32	15	28	11	-1	117.870428	32	15	0.481013	1	0	0	0	0	0	0	1	0	--	--		0	A			ATP2B2_uc003bvv.2_Silent_p.S501S|ATP2B2_uc003bvw.2_Silent_p.S501S|ATP2B2_uc010hdo.2_Silent_p.S251S	68	GBM-06-0747-TP	p.S546S	G	TGGTGTAGGCGCTGTTGATGG	NM_001001331	NP_001001331	10413514	Q01814	AT2B2_HUMAN	0			12	2077	-	A	A			Silent	546			Cytoplasmic (Potential).			
ATP2B2	491	broad.mit.edu	GRCh37	3	10387071	10387071	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-1804-01	TCGA-06-1804-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360273.2:c.2700G>A	p.Thr900=	p.T900=	ENST00000360273	NM_001001331.2	900	acG/acA	0			1			T	T	uc003bvt.2	protein_coding		CCDS33701.1			2700/3732									ovary(3)|skin(2)|central_nervous_system(1)	6	c.(2698-2700)ACG>ACA			Superfamily_domains:0049473,Gene3D:1.20.1110.10,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF247,Superfamily_domains:SSF56784,TIGRFAM_domain:TIGR01517,Transmembrane_helices:TMhelix	plasma membrane calcium ATPase 2 isoform 1				ENSP00000324172		17/22	2.47E-05	9.62E-05				3.00E-05			rs779409545,COSM1318749,COSM1318748	17/22	.		ENST00000352432	Transcript			ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	ENSG00000157087	g.chr3:10387071C>T	815			LOW								--	--	1																																		ATP2B2_uc003bvv.2_Silent_p.T855T|ATP2B2_uc003bvw.2_Silent_p.T855T|ATP2B2_uc010hdo.2_Silent_p.T605T	0,1,1				p.T900T	NM_001001331	NP_001001331			0,1,1	AT2B2_HUMAN	ATP2B2	HGNC	Q01814	AT2B2_HUMAN			Q4J699_HUMAN,Q4J696_HUMAN		18	3139	-			UPI00001261EF	900			Extracellular (Potential).		SNV	ATP2B2,synonymous_variant,p.=,ENST00000397077,;ATP2B2,synonymous_variant,p.=,ENST00000360273,NM_001001331.2;ATP2B2,synonymous_variant,p.=,ENST00000343816,;ATP2B2,synonymous_variant,p.=,ENST00000383800,NM_001683.3;ATP2B2,synonymous_variant,p.=,ENST00000352432,;ATP2B2,synonymous_variant,p.=,ENST00000452124,;ATP2B2,synonymous_variant,p.=,ENST00000460129,;	uc003bvt.2	c.2700G>A	2770/8593	1	1			c.2700G>A						3	SNP	c.(2698-2700)ACG>ACA	11	11			ovary(3)|skin(2)|central_nervous_system(1)	6	Broad	plasma membrane calcium ATPase 2 isoform 1			10387071		0.627	ENSG00000157087	1115	g.chr3:10387071C>T	ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	Ovarian(125;1619 1709 15675 19819 38835)			Ovarian(125;1619 1709 15675 19819 38835)			33.68291	KEEP	11	5	-1	42	19	11	5	-1	39.158981	42	19	0.211268	1	0	0	0	0	0	0	1	0	--	--		0	T			ATP2B2_uc003bvv.2_Silent_p.T855T|ATP2B2_uc003bvw.2_Silent_p.T855T|ATP2B2_uc010hdo.2_Silent_p.T605T	79	GBM-06-1804-TP	p.T900T	C	GACCCACCTGCGTGATGCAGG	NM_001001331	NP_001001331	10387071	Q01814	AT2B2_HUMAN	0			18	3139	-	T	T			Silent	900			Extracellular (Potential).			
ATP2B2	491	broad.mit.edu	GRCh37	3	10387792	10387792	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01	TCGA-06-2564-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360273.2:c.2434C>T	p.Arg812Trp	p.R812W	ENST00000360273	NM_001001331.2	812	Cgg/Tgg	0			1			A	R/W	uc003bvt.2	protein_coding		CCDS33701.1			2434/3732									ovary(3)|skin(2)|central_nervous_system(1)	6	c.(2434-2436)CGG>TGG			Gene3D:1.20.1110.10,Pfam_domain:PF00702,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF247,Superfamily_domains:SSF56784,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01517	plasma membrane calcium ATPase 2 isoform 1				ENSP00000324172		16/22									COSM2152967,COSM2152966	16/22	.		ENST00000352432	Transcript			ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	ENSG00000157087	g.chr3:10387792G>A	815			MODERATE		2.77	medium	getma.org/?cm=msa&ty=f&p=AT2B2_HUMAN&rb=493&re=832&var=R812W	getma.org/pdb.php?prot=AT2B2_HUMAN&from=493&to=832&var=R812W	getma.org/?cm=var&var=hg19,3,10387792,G,A&fts=all	R812W	--	--	1																																		ATP2B2_uc003bvv.2_Missense_Mutation_p.R767W|ATP2B2_uc003bvw.2_Missense_Mutation_p.R767W|ATP2B2_uc010hdo.2_Missense_Mutation_p.R517W	1,1			probably_damaging(0.999)	p.R812W	NM_001001331	NP_001001331		deleterious(0)	1,1	AT2B2_HUMAN	ATP2B2	HGNC	Q01814	AT2B2_HUMAN			Q4J699_HUMAN,Q4J696_HUMAN		17	2873	-			UPI00001261EF	812			Cytoplasmic (Potential).		SNV	ATP2B2,missense_variant,p.Arg767Trp,ENST00000397077,;ATP2B2,missense_variant,p.Arg812Trp,ENST00000360273,NM_001001331.2;ATP2B2,missense_variant,p.Arg798Trp,ENST00000343816,;ATP2B2,missense_variant,p.Arg767Trp,ENST00000383800,NM_001683.3;ATP2B2,missense_variant,p.Arg812Trp,ENST00000352432,;ATP2B2,missense_variant,p.Arg668Trp,ENST00000452124,;ATP2B2,missense_variant,p.Arg767Trp,ENST00000460129,;	uc003bvt.2	c.2434C>T	2504/8593	1	1			c.2434C>T						3	SNP	c.(2434-2436)CGG>TGG	60	60			ovary(3)|skin(2)|central_nervous_system(1)	6	Broad	plasma membrane calcium ATPase 2 isoform 1			10387792		0.682	ENSG00000157087	1115	g.chr3:10387792G>A	ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	Ovarian(125;1619 1709 15675 19819 38835)			Ovarian(125;1619 1709 15675 19819 38835)			28.014483	KEEP	10	10	-1	19	18	10	10	-1	29.087519	19	18	0.314286	1	0	0	0	0	1	0	0	0	--	--		0	A			ATP2B2_uc003bvv.2_Missense_Mutation_p.R767W|ATP2B2_uc003bvw.2_Missense_Mutation_p.R767W|ATP2B2_uc010hdo.2_Missense_Mutation_p.R517W	87	GBM-06-2564-TP	p.R812W	G	ACCACCTGCCGCTGCTCAGTG	NM_001001331	NP_001001331	10387792	Q01814	AT2B2_HUMAN	0			17	2873	-	A	A			Missense_Mutation	812			Cytoplasmic (Potential).			
ATP2B2	0	broad.mit.edu	GRCh37	3	10413708	10413708	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01	TCGA-12-0618-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000352432.4:c.1444C>T	p.Arg482Cys	p.R482C	ENST00000352432		482	Cgc/Tgc	0			1			A	R/C	uc003bvt.2	protein_coding		CCDS33701.1			1444/3732									ovary(3)|skin(2)|central_nervous_system(1)	6	c.(1444-1446)CGC>TGC			Superfamily_domains:0049473,Pfam_domain:PF00122,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF247,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01517	plasma membrane calcium ATPase 2 isoform 1				ENSP00000324172		22-Nov									COSM3408087,COSM3408086	22-Nov	.		ENST00000352432	Transcript			ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	ENSG00000157087	g.chr3:10413708G>A	815			MODERATE		4.26	high	getma.org/?cm=msa&ty=f&p=AT2B2_HUMAN&rb=156&re=489&var=R482C	NA	getma.org/?cm=var&var=hg19,3,10413708,G,A&fts=all	R482C	--	--	1																																		ATP2B2_uc003bvv.2_Missense_Mutation_p.R437C|ATP2B2_uc003bvw.2_Missense_Mutation_p.R437C|ATP2B2_uc010hdo.2_Missense_Mutation_p.R187C	1,1			probably_damaging(0.999)	p.R482C	NM_001001331	NP_001001331		deleterious(0)	1,1	AT2B2_HUMAN	ATP2B2	HGNC	Q01814	AT2B2_HUMAN			Q4J699_HUMAN,Q4J696_HUMAN		12	1883	-			UPI00001261EF	482			Cytoplasmic (Potential).		SNV	ATP2B2,missense_variant,p.Arg437Cys,ENST00000397077,;ATP2B2,missense_variant,p.Arg482Cys,ENST00000360273,NM_001001331.2;ATP2B2,missense_variant,p.Arg468Cys,ENST00000343816,;ATP2B2,missense_variant,p.Arg437Cys,ENST00000383800,NM_001683.3;ATP2B2,missense_variant,p.Arg482Cys,ENST00000352432,;ATP2B2,missense_variant,p.Arg338Cys,ENST00000452124,;ATP2B2,missense_variant,p.Arg437Cys,ENST00000460129,;	uc003bvt.2	c.1444C>T	1514/8593	1	1			c.1444C>T						3	SNP	c.(1444-1446)CGC>TGC	51	51			ovary(3)|skin(2)|central_nervous_system(1)	6	Broad	plasma membrane calcium ATPase 2 isoform 1			10413708		0.587	ENSG00000157087	1115	g.chr3:10413708G>A	ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	Ovarian(125;1619 1709 15675 19819 38835)			Ovarian(125;1619 1709 15675 19819 38835)			-37.044758	KEEP	2	3	-1	101	80	2	3	-1	6.476798	101	80	0.023256	1	0	0	0	0	1	0	0	0	--	--		0	A			ATP2B2_uc003bvv.2_Missense_Mutation_p.R437C|ATP2B2_uc003bvw.2_Missense_Mutation_p.R437C|ATP2B2_uc010hdo.2_Missense_Mutation_p.R187C	119	GBM-12-0618-TP	p.R482C	G	TCCAGGTGGCGTACCAGGTTG	NM_001001331	NP_001001331	10413708	Q01814	AT2B2_HUMAN	0			12	1883	-	A	A			Missense_Mutation	482			Cytoplasmic (Potential).			
ATP2B3	492	broad.mit.edu	GRCh37	X	152801876	152801876	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263519.4:c.171C>T	p.Ser57=	p.S57=	ENST00000263519	NM_001001344.2	57	agC/agT	0			1			T	S	uc004fht.1	protein_coding	YES	CCDS35440.1			171/3663									pancreas(1)	1	c.(169-171)AGC>AGT			Superfamily_domains:0049473,Pfam_domain:PF00690,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF265,SMART_domains:SM00831	plasma membrane calcium ATPase 3 isoform 3b				ENSP00000263519		20-Jan										20-Jan	.		ENST00000263519	Transcript	1		ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	ENSG00000067842	g.chrX:152801876C>T	816			LOW								--	--	1																																		ATP2B3_uc004fhs.1_Silent_p.S57S		1			p.S57S	NM_001001344	NP_001001344				AT2B3_HUMAN	ATP2B3	HGNC	Q16720	AT2B3_HUMAN			A1L3B5_HUMAN		1	297	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		UPI00001AE881	57			Cytoplasmic (Potential).		SNV	ATP2B3,synonymous_variant,p.=,ENST00000370186,;ATP2B3,synonymous_variant,p.=,ENST00000370181,;ATP2B3,synonymous_variant,p.=,ENST00000263519,NM_001001344.2;ATP2B3,synonymous_variant,p.=,ENST00000349466,;ATP2B3,synonymous_variant,p.=,ENST00000359149,NM_021949.3;ATP2B3,synonymous_variant,p.=,ENST00000393842,;	uc004fht.1	c.171C>T	297/6420	2	2			c.171C>T						23	SNP	c.(169-171)AGC>AGT	17	17			pancreas(1)	1	Broad	plasma membrane calcium ATPase 3 isoform 3b			152801876		0.667	ENSG00000067842	1116	g.chrX:152801876C>T	ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding							19.050264	KEEP	2	5	-1	1	6	2	5	-1	19.050264	1	6	0.5	1	0	0	0	0	0	0	1	0	--	--		0	T			ATP2B3_uc004fhs.1_Silent_p.S57S	23	GBM-06-0145-TP	p.S57S	C	GGGATGTCAGCGGGCTCTGCC	NM_001001344	NP_001001344	152801876	Q16720	AT2B3_HUMAN	0			1	297	+	T	T	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		Silent	57			Cytoplasmic (Potential).			
ATP2B3	492	broad.mit.edu	GRCh37	X	152807349	152807349	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0210-01	TCGA-06-0210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263519.4:c.629C>T	p.Ala210Val	p.A210V	ENST00000263519	NM_001001344.2	210	gCg/gTg	0		T:0	1	T:0		T	A/V	uc004fht.1	protein_coding	YES	CCDS35440.1			629/3663									pancreas(1)	1	c.(628-630)GCG>GTG			Superfamily_domains:0049471,Pfam_domain:PF00122,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF265,Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR01494	plasma membrane calcium ATPase 3 isoform 3b		T:0.001		ENSP00000263519	T:0	20-Mar									rs200641356,COSM2150684,COSM2150683,COSM2150682,COSM2150685	20-Mar	.		ENST00000263519	Transcript	1	T:0.0003	ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	ENSG00000067842	g.chrX:152807349C>T	816			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=AT2B3_HUMAN&rb=159&re=463&var=A210V	getma.org/pdb.php?prot=AT2B3_HUMAN&from=159&to=463&var=A210V	getma.org/?cm=var&var=hg19,X,152807349,C,T&fts=all	A210V	--	--	1																																		ATP2B3_uc004fhs.1_Missense_Mutation_p.A210V	0,1,1,1,1	1		benign(0.005)	p.A210V	NM_001001344	NP_001001344	T:0	deleterious(0.04)	0,1,1,1,1	AT2B3_HUMAN	ATP2B3	HGNC	Q16720	AT2B3_HUMAN			A1L3B5_HUMAN		3	755	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		UPI00001AE881	210			Cytoplasmic (Potential).		SNV	ATP2B3,missense_variant,p.Ala210Val,ENST00000370186,;ATP2B3,missense_variant,p.Ala210Val,ENST00000370181,;ATP2B3,missense_variant,p.Ala210Val,ENST00000263519,NM_001001344.2;ATP2B3,missense_variant,p.Ala210Val,ENST00000349466,;ATP2B3,missense_variant,p.Ala210Val,ENST00000359149,NM_021949.3;ATP2B3,missense_variant,p.Ala210Val,ENST00000393842,;	uc004fht.1	c.629C>T	755/6420	1	1			c.629C>T						23	SNP	c.(628-630)GCG>GTG	2	2			pancreas(1)	1	Broad	plasma membrane calcium ATPase 3 isoform 3b			152807349		0.627	ENSG00000067842	1116	g.chrX:152807349C>T	ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding							127.306088	KEEP	22	50	-1	139	117	22	50	-1	144.963981	139	117	0.221774	1	0	0	0	0	1	0	0	0	--	--		0	T			ATP2B3_uc004fhs.1_Missense_Mutation_p.A210V	47	GBM-06-0210-TP	p.A210V	C	CCCGTGGCTGCGCTGGTGGTG	NM_001001344	NP_001001344	152807349	Q16720	AT2B3_HUMAN	0			3	755	+	T	T	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	210			Cytoplasmic (Potential).			
ATP2B3	0	broad.mit.edu	GRCh37	X	152818620	152818620	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01	TCGA-41-5651-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263519.4:c.1951C>T	p.Arg651Trp	p.R651W	ENST00000263519	NM_001001344.2	651	Cgg/Tgg	0			1			T	R/W	uc004fht.1	protein_coding	YES	CCDS35440.1			1951/3663									pancreas(1)	1	c.(1951-1953)CGG>TGG			Gene3D:1.20.1110.10,Pfam_domain:PF00702,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF265,Superfamily_domains:SSF56784,Superfamily_domains:SSF81660,TIGRFAM_domain:TIGR01517	plasma membrane calcium ATPase 3 isoform 3b				ENSP00000263519		20-Nov									COSM3406101,COSM3406100,COSM3406099,COSM3406102	20-Nov	.		ENST00000263519	Transcript	1		ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	ENSG00000067842	g.chrX:152818620C>T	816			MODERATE		4	high	getma.org/?cm=msa&ty=f&p=AT2B3_HUMAN&rb=467&re=806&var=R651W	getma.org/pdb.php?prot=AT2B3_HUMAN&from=467&to=806&var=R651W	getma.org/?cm=var&var=hg19,X,152818620,C,T&fts=all	R651W	--	--	1																																		ATP2B3_uc004fhs.1_Missense_Mutation_p.R651W	1,1,1,1	1		probably_damaging(0.999)	p.R651W	NM_001001344	NP_001001344		deleterious(0)	1,1,1,1	AT2B3_HUMAN	ATP2B3	HGNC	Q16720	AT2B3_HUMAN			A1L3B5_HUMAN		11	2077	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		UPI00001AE881	651			Cytoplasmic (Potential).		SNV	ATP2B3,missense_variant,p.Arg637Trp,ENST00000370186,;ATP2B3,missense_variant,p.Arg637Trp,ENST00000370181,;ATP2B3,missense_variant,p.Arg651Trp,ENST00000263519,NM_001001344.2;ATP2B3,missense_variant,p.Arg651Trp,ENST00000349466,;ATP2B3,missense_variant,p.Arg651Trp,ENST00000359149,NM_021949.3;ATP2B3,missense_variant,p.Arg637Trp,ENST00000393842,;ATP2B3,upstream_gene_variant,,ENST00000460549,;	uc004fht.1	c.1951C>T	2077/6420	2	2			c.1951C>T						23	SNP	c.(1951-1953)CGG>TGG	29	29			pancreas(1)	1	Broad	plasma membrane calcium ATPase 3 isoform 3b			152818620		0.632	ENSG00000067842	1116	g.chrX:152818620C>T	ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding							66.663153	KEEP	12	21	-1	32	40	12	21	-1	70.597746	32	40	0.275862	1	0	0	0	0	1	0	0	0	--	--		0	T			ATP2B3_uc004fhs.1_Missense_Mutation_p.R651W	258	GBM-41-5651-TP	p.R651W	C	CATCGCCTACCGGGACTTCTC	NM_001001344	NP_001001344	152818620	Q16720	AT2B3_HUMAN	0			11	2077	+	T	T	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	651			Cytoplasmic (Potential).			
ATP2C1	27032	broad.mit.edu	GRCh37	3	130672707	130672707	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0879-01	TCGA-06-0879-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393221.4:c.676A>G	p.Thr226Ala	p.T226A	ENST00000393221		226	Aca/Gca	0			1			G	T/A	uc003enl.2	protein_coding		CCDS46914.1			574/2760									skin(1)	1	c.(574-576)ACA>GCA			hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF214,Pfam_domain:PF00122,TIGRFAM_domain:TIGR01494,Gene3D:1.20.1110.10,TIGRFAM_domain:TIGR01522,Superfamily_domains:0049471,Prints_domain:PR00119	calcium-transporting ATPase 2C1 isoform 1a	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)			ENSP00000395809		27-Aug									COSM2152317,COSM2152316	27-Aug	.	Hailey-Hailey_disease	ENST00000428331	Transcript	1		actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	ENSG00000017260	g.chr3:130672707A>G	13211			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=AT2C1_HUMAN&rb=105&re=340&var=T192A	getma.org/pdb.php?prot=AT2C1_HUMAN&from=105&to=340&var=T192A	getma.org/?cm=var&var=hg19,3,130672707,A,G&fts=all	T192A	--	--	1																																		ATP2C1_uc011blg.1_Missense_Mutation_p.T226A|ATP2C1_uc011blh.1_Missense_Mutation_p.T187A|ATP2C1_uc011bli.1_Missense_Mutation_p.T226A|ATP2C1_uc003enk.2_Missense_Mutation_p.T176A|ATP2C1_uc003enm.2_Missense_Mutation_p.T192A|ATP2C1_uc003enn.2_Missense_Mutation_p.T176A|ATP2C1_uc003eno.2_Missense_Mutation_p.T192A|ATP2C1_uc003enp.2_Missense_Mutation_p.T192A|ATP2C1_uc003enq.2_Missense_Mutation_p.T192A|ATP2C1_uc003enr.2_Missense_Mutation_p.T192A|ATP2C1_uc003ens.2_Missense_Mutation_p.T192A|ATP2C1_uc003ent.2_Missense_Mutation_p.T192A	1,1			benign(0.145)	p.T192A	NM_014382	NP_055197		tolerated(0.31)	1,1	AT2C1_HUMAN	ATP2C1	HGNC	P98194	AT2C1_HUMAN			D6RHV9_HUMAN,D6RGE9_HUMAN,D6REJ1_HUMAN,D6R9U9_HUMAN		9	796	+			UPI000015F977	192			Cytoplasmic (By similarity).		SNV	ATP2C1,missense_variant,p.Thr192Ala,ENST00000510168,;ATP2C1,missense_variant,p.Thr192Ala,ENST00000508532,NM_001199179.1;ATP2C1,missense_variant,p.Thr176Ala,ENST00000505330,NM_001199181.1;ATP2C1,missense_variant,p.Thr192Ala,ENST00000428331,NM_014382.3;ATP2C1,missense_variant,p.Thr176Ala,ENST00000504948,NM_001199184.1;ATP2C1,missense_variant,p.Thr176Ala,ENST00000507488,NM_001199180.1;ATP2C1,missense_variant,p.Thr137Ala,ENST00000504381,NM_001199182.1;ATP2C1,missense_variant,p.Thr192Ala,ENST00000328560,NM_001199185.1,NM_001001485.2;ATP2C1,missense_variant,p.Thr226Ala,ENST00000393221,;ATP2C1,missense_variant,p.Thr176Ala,ENST00000513801,NM_001199183.1;ATP2C1,missense_variant,p.Thr192Ala,ENST00000359644,NM_001001486.1;ATP2C1,missense_variant,p.Thr192Ala,ENST00000422190,NM_001001487.1;ATP2C1,missense_variant,p.Thr187Ala,ENST00000533801,;ATP2C1,missense_variant,p.Thr146Ala,ENST00000504612,;ATP2C1,upstream_gene_variant,,ENST00000515854,;ATP2C1,non_coding_transcript_exon_variant,,ENST00000513636,;	uc003enl.2	c.574A>G	809/4795	4	4			c.574A>G						3	SNP	c.(574-576)ACA>GCA	30	30			skin(1)	1	Broad	calcium-transporting ATPase 2C1 isoform 1a		Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	130672707	Hailey-Hailey_disease	0.438	ENSG00000017260	1118	g.chr3:130672707A>G	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	Esophageal Squamous(99;456 1443 27647 34099 42636)			Esophageal Squamous(99;456 1443 27647 34099 42636)			204.630961	KEEP	30	39	-1	56	71	30	39	-1	207.790711	56	71	0.359116	1	0	0	0	0	1	0	0	0	--	--		0	G			ATP2C1_uc011blg.1_Missense_Mutation_p.T226A|ATP2C1_uc011blh.1_Missense_Mutation_p.T187A|ATP2C1_uc011bli.1_Missense_Mutation_p.T226A|ATP2C1_uc003enk.2_Missense_Mutation_p.T176A|ATP2C1_uc003enm.2_Missense_Mutation_p.T192A|ATP2C1_uc003enn.2_Missense_Mutation_p.T176A|ATP2C1_uc003eno.2_Missense_Mutation_p.T192A|ATP2C1_uc003enp.2_Missense_Mutation_p.T192A|ATP2C1_uc003enq.2_Missense_Mutation_p.T192A|ATP2C1_uc003enr.2_Missense_Mutation_p.T192A|ATP2C1_uc003ens.2_Missense_Mutation_p.T192A|ATP2C1_uc003ent.2_Missense_Mutation_p.T192A	75	GBM-06-0879-TP	p.T192A	A	GACAGGTGAGACAACGCCTTG	NM_014382	NP_055197	130672707	P98194	AT2C1_HUMAN	0			9	796	+	G	G			Missense_Mutation	192			Cytoplasmic (By similarity).			
ATP2C2	9914	broad.mit.edu	GRCh37	16	84472802	84472802	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0878-01	TCGA-06-0878-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262429.4:c.1017G>A	p.Leu339=	p.L339=	ENST00000262429	NM_014861.2	339	ctG/ctA	0			1			A	L	uc002fhx.2	protein_coding	YES	CCDS42207.1			1017/2841									breast(1)|central_nervous_system(1)	2	c.(1015-1017)CTG>CTA			Transmembrane_helices:TMhelix,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF220,TIGRFAM_domain:TIGR01522,TIGRFAM_domain:TIGR01494,Pfam_domain:PF00122,Gene3D:1.20.1110.10,Superfamily_domains:0049473	ATPase, Ca++ transporting, type 2C, member 2				ENSP00000262429		27-Dec									COSM2152225	27-Dec	.		ENST00000262429	Transcript			ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	ENSG00000064270	g.chr16:84472802G>A	29103			LOW								--	--	1																																		ATP2C2_uc010chj.2_Silent_p.L339L|ATP2C2_uc002fhy.2_Silent_p.L356L|ATP2C2_uc002fhz.2_Silent_p.L188L	1	1			p.L339L	NM_014861	NP_055676			1	AT2C2_HUMAN	ATP2C2	HGNC	O75185	AT2C2_HUMAN					12	1106	+			UPI0000252110	339			Helical; Name=5; (Potential).		SNV	ATP2C2,synonymous_variant,p.=,ENST00000416219,NM_001286527.1;ATP2C2,synonymous_variant,p.=,ENST00000262429,NM_014861.2;ATP2C2,non_coding_transcript_exon_variant,,ENST00000420010,;ATP2C2,non_coding_transcript_exon_variant,,ENST00000565631,;ATP2C2,non_coding_transcript_exon_variant,,ENST00000564099,;	uc002fhx.2	c.1017G>A	1106/3376	2	2			c.1017G>A						16	SNP	c.(1015-1017)CTG>CTA	24	24			breast(1)|central_nervous_system(1)	2	Broad	ATPase, Ca++ transporting, type 2C, member 2			84472802		0.572	ENSG00000064270	1119	g.chr16:84472802G>A	ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding							77.922444	KEEP	24	14	-1	39	33	24	14	-1	79.326614	39	33	0.361446	1	0	0	0	0	0	0	1	0	--	--		0	A			ATP2C2_uc010chj.2_Silent_p.L339L|ATP2C2_uc002fhy.2_Silent_p.L356L|ATP2C2_uc002fhz.2_Silent_p.L188L	74	GBM-06-0878-TP	p.L339L	G	CAGAGGGTCTGCCCATCGTCG	NM_014861	NP_055676	84472802	O75185	AT2C2_HUMAN	0			12	1106	+	A	A			Silent	339			Helical; Name=5; (Potential).			
ATP2C2	9914		GRCh37	16	84449185	84449185	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000262429.4:c.612C>A	p.Ile204=	p.I204=	ENST00000262429	NM_014861.2	204	atC/atA	0																																																																																																																																																																																																																																												
ATP4A	0	broad.mit.edu	GRCh37	19	36046636	36046636	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01	TCGA-12-1597-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262623.3:c.1948G>A	p.Glu650Lys	p.E650K	ENST00000262623	NM_000704.2	650	Gag/Aag	0			1			T	E/K	uc002oal.1	protein_coding	YES	CCDS12467.1			1948/3108									ovary(1)	1	c.(1948-1950)GAG>AAG			Superfamily_domains:SSF56784,Pfam_domain:PF00702,TIGRFAM_domain:TIGR01106,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF251	hydrogen/potassium-exchanging ATPase 4A	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)			ENSP00000262623		13/22	8.24E-06					1.50E-05			rs779455265,COSM3404134	13/22	.		ENST00000262623	Transcript			ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	ENSG00000105675	g.chr19:36046636C>T	819			MODERATE		0.675	neutral	getma.org/?cm=msa&ty=f&p=ATP4A_HUMAN&rb=381&re=740&var=E650K	getma.org/pdb.php?prot=ATP4A_HUMAN&from=381&to=740&var=E650K	getma.org/?cm=var&var=hg19,19,36046636,C,T&fts=all	E650K	--	--	1																																		ATP4A_uc010eee.1_5'UTR	0,1	1		probably_damaging(0.996)	p.E650K	NM_000704	NP_000695		tolerated(0.11)	0,1	ATP4A_HUMAN	ATP4A	HGNC	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)				13	1977	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		UPI000016A49B	650			Cytoplasmic (Potential).		SNV	ATP4A,missense_variant,p.Glu650Lys,ENST00000262623,NM_000704.2;ATP4A,3_prime_UTR_variant,,ENST00000592767,;ATP4A,non_coding_transcript_exon_variant,,ENST00000592131,;	uc002oal.1	c.1948G>A	1977/3709	1	1			c.1948G>A						19	SNP	c.(1948-1950)GAG>AAG	1	1			ovary(1)	1	Broad	hydrogen/potassium-exchanging ATPase 4A		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	36046636		0.622	ENSG00000105675	1120	g.chr19:36046636C>T	ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding							275.996674	KEEP	63	54	-1	95	108	63	54	-1	278.263844	95	108	0.393939	1	0	0	0	0	1	0	0	0	--	--		0	T			ATP4A_uc010eee.1_5'UTR	124	GBM-12-1597-TP	p.E650K	C	TCCACTGTCTCGCTGCCTTCC	NM_000704	NP_000695	36046636	P20648	ATP4A_HUMAN	0	LUSC - Lung squamous cell carcinoma(66;0.0724)		13	1977	-	T	T	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		Missense_Mutation	650			Cytoplasmic (Potential).			
ATP4A	0	broad.mit.edu	GRCh37	19	36051416	36051416	+	synonymous_variant	Silent	SNP	G	G	A	rs149880813		TCGA-32-2634-01	TCGA-32-2634-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262623.3:c.636C>T	p.Ala212=	p.A212=	ENST00000262623	NM_000704.2	212	gcC/gcT	0	A:0.0002		1			A	A	uc002oal.1	protein_coding	YES	CCDS12467.1			636/3108									ovary(1)	1	c.(634-636)GCC>GCT			Superfamily_domains:0049471,Pfam_domain:PF00122,TIGRFAM_domain:TIGR01106,Gene3D:2.70.150.10,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF251	hydrogen/potassium-exchanging ATPase 4A	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)		A:0	ENSP00000262623		22-Jun	3.29E-05	0.000289				1.50E-05			rs149880813,COSM3404135	22-Jun	.		ENST00000262623	Transcript			ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	ENSG00000105675	g.chr19:36051416G>A	819			LOW								--	--	1																																		ATP4A_uc010eee.1_5'Flank	0,1	1			p.A212A	NM_000704	NP_000695			0,1	ATP4A_HUMAN	ATP4A	HGNC	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)				6	665	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		UPI000016A49B	212			Cytoplasmic (Potential).		SNV	ATP4A,synonymous_variant,p.=,ENST00000262623,NM_000704.2;ATP4A,upstream_gene_variant,,ENST00000592131,;ATP4A,upstream_gene_variant,,ENST00000592767,;ATP4A,downstream_gene_variant,,ENST00000590916,;	uc002oal.1	c.636C>T	665/3709	2	2			c.636C>T						19	SNP	c.(634-636)GCC>GCT	33	33			ovary(1)	1	Broad	hydrogen/potassium-exchanging ATPase 4A		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	36051416		0.622	ENSG00000105675	1120	g.chr19:36051416G>A	ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding							147.611407	KEEP	24	25	-1	33	20	24	25	-1	147.664366	33	20	0.473684	1	0	0	0	0	0	0	1	0	--	--		0	A			ATP4A_uc010eee.1_5'Flank	241	GBM-32-2634-TP	p.A212A	G	TGCGGATGTCGGCGGGCACTC	NM_000704	NP_000695	36051416	P20648	ATP4A_HUMAN	0	LUSC - Lung squamous cell carcinoma(66;0.0724)		6	665	-	A	A	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		Silent	212			Cytoplasmic (Potential).			
ATP4A	495		GRCh37	19	36051513	36051513	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000262623.3:c.539C>T	p.Ala180Val	p.A180V	ENST00000262623	NM_000704.2	180	gCc/gTc	0																																																																																																																																																																																																																																												
ATP5A1	0	broad.mit.edu	GRCh37	18	43668121	43668121	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-19-2623-01	TCGA-19-2623-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282050.2:c.753A>G	p.Gln251=	p.Q251=	ENST00000282050	NM_001001937.1	251	caA/caG	0			1			C	Q	uc002lbr.1	protein_coding	YES	CCDS11927.1			753/1662										0	c.(751-753)CAA>CAG			HAMAP:MF_01346,hmmpanther:PTHR15184,hmmpanther:PTHR15184:SF39,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00962,Pfam_domain:PF00006,Superfamily_domains:SSF52540	ATP synthase, H+ transporting, mitochondrial F1				ENSP00000282050		13-Jul									COSM3403543	13-Jul	.		ENST00000282050	Transcript	1		ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	ENSG00000152234	g.chr18:43668121T>C	823			LOW								--	--	1																																		ATP5A1_uc010dnl.1_Silent_p.Q201Q|ATP5A1_uc002lbs.1_Silent_p.Q201Q|ATP5A1_uc002lbt.1_Silent_p.Q251Q	1	1			p.Q251Q	NM_004046	NP_004037			1	ATPA_HUMAN	ATP5A1	HGNC	P25705	ATPA_HUMAN			K7EQH4_HUMAN,K7ERX7_HUMAN,K7EK77_HUMAN,K7EJP1_HUMAN,B4DGW3_HUMAN		6	843	-			UPI000006221A	251					SNV	ATP5A1,synonymous_variant,p.=,ENST00000593152,NM_001257335.1;ATP5A1,synonymous_variant,p.=,ENST00000282050,NM_001001937.1;ATP5A1,synonymous_variant,p.=,ENST00000398752,NM_004046.5,NM_001001935.2;ATP5A1,synonymous_variant,p.=,ENST00000590665,NM_001257334.1;ATP5A1,synonymous_variant,p.=,ENST00000589869,;ATP5A1,synonymous_variant,p.=,ENST00000589252,;ATP5A1,downstream_gene_variant,,ENST00000590324,;ATP5A1,downstream_gene_variant,,ENST00000590406,;ATP5A1,downstream_gene_variant,,ENST00000592989,;ATP5A1,3_prime_UTR_variant,,ENST00000586592,;ATP5A1,3_prime_UTR_variant,,ENST00000590156,;ATP5A1,non_coding_transcript_exon_variant,,ENST00000586523,;ATP5A1,intron_variant,,ENST00000592364,;ATP5A1,downstream_gene_variant,,ENST00000589611,;ATP5A1,downstream_gene_variant,,ENST00000590448,;ATP5A1,upstream_gene_variant,,ENST00000587902,;ATP5A1,downstream_gene_variant,,ENST00000591981,;ATP5A1,downstream_gene_variant,,ENST00000585650,;	uc002lbr.1	c.753A>G	898/1945	3	3			c.753A>G						18	SNP	c.(751-753)CAA>CAG	64	64				0	Broad	ATP synthase, H+ transporting, mitochondrial F1			43668121		0.368	ENSG00000152234	1122	g.chr18:43668121T>C	ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism							377.663482	KEEP	76	38	-1	77	79	76	38	-1	379.33893	77	79	0.412698	1	0	0	0	0	0	0	1	0	--	--		0	C			ATP5A1_uc010dnl.1_Silent_p.Q201Q|ATP5A1_uc002lbs.1_Silent_p.Q201Q|ATP5A1_uc002lbt.1_Silent_p.Q251Q	163	GBM-19-2623-TP	p.Q251Q	T	TGGATCTCTTTTGACCAATAG	NM_004046	NP_004037	43668121	P25705	ATPA_HUMAN	0			6	843	-	C	C			Silent	251						
ATP5A1	0	broad.mit.edu	GRCh37	18	43667414	43667414	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-27-1830-01	TCGA-27-1830-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282050.2:c.844G>T	p.Ala282Ser	p.A282S	ENST00000282050	NM_001001937.1	282	Gct/Tct	0			1			A	A/S	uc002lbr.1	protein_coding	YES	CCDS11927.1			844/1662										0	c.(844-846)GCT>TCT			HAMAP:MF_01346,hmmpanther:PTHR15184,hmmpanther:PTHR15184:SF39,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00962,Pfam_domain:PF00006,Superfamily_domains:SSF52540	ATP synthase, H+ transporting, mitochondrial F1				ENSP00000282050		13-Aug									COSM3403542	13-Aug	.		ENST00000282050	Transcript	1		ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	ENSG00000152234	g.chr18:43667414C>A	823			MODERATE		-1.1	neutral	getma.org/?cm=msa&ty=f&p=ATPA_HUMAN&rb=191&re=415&var=A282S	getma.org/pdb.php?prot=ATPA_HUMAN&from=191&to=415&var=A282S	getma.org/?cm=var&var=hg19,18,43667414,C,A&fts=all	A282S	--	--	1																																		ATP5A1_uc010dnl.1_Missense_Mutation_p.A232S|ATP5A1_uc002lbs.1_Missense_Mutation_p.A232S|ATP5A1_uc002lbt.1_Missense_Mutation_p.A282S	1	1		probably_damaging(0.944)	p.A282S	NM_004046	NP_004037		tolerated_low_confidence(0.16)	1	ATPA_HUMAN	ATP5A1	HGNC	P25705	ATPA_HUMAN			K7EQH4_HUMAN,K7ERX7_HUMAN,K7EK77_HUMAN,K7EJP1_HUMAN,B4DGW3_HUMAN		7	934	-			UPI000006221A	282					SNV	ATP5A1,missense_variant,p.Ala232Ser,ENST00000593152,NM_001257335.1;ATP5A1,missense_variant,p.Ala282Ser,ENST00000282050,NM_001001937.1;ATP5A1,missense_variant,p.Ala282Ser,ENST00000398752,NM_004046.5,NM_001001935.2;ATP5A1,missense_variant,p.Ala260Ser,ENST00000590665,NM_001257334.1;ATP5A1,missense_variant,p.Ala193Ser,ENST00000589252,;ATP5A1,downstream_gene_variant,,ENST00000589869,;ATP5A1,downstream_gene_variant,,ENST00000590324,;ATP5A1,downstream_gene_variant,,ENST00000590406,;ATP5A1,downstream_gene_variant,,ENST00000592989,;ATP5A1,3_prime_UTR_variant,,ENST00000586592,;ATP5A1,3_prime_UTR_variant,,ENST00000590156,;ATP5A1,non_coding_transcript_exon_variant,,ENST00000586523,;ATP5A1,intron_variant,,ENST00000592364,;ATP5A1,downstream_gene_variant,,ENST00000589611,;ATP5A1,downstream_gene_variant,,ENST00000590448,;ATP5A1,upstream_gene_variant,,ENST00000587902,;ATP5A1,downstream_gene_variant,,ENST00000591981,;ATP5A1,downstream_gene_variant,,ENST00000585650,;	uc002lbr.1	c.844G>T	989/1945	1	1			c.844G>T						18	SNP	c.(844-846)GCT>TCT	62	62				0	Broad	ATP synthase, H+ transporting, mitochondrial F1			43667414		0.423	ENSG00000152234	1122	g.chr18:43667414C>A	ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism							-11.878327	KEEP	2	2	0.5	68	61	2	2	0.5	7.549202	68	61	0.045455	1	0	0	0	0	1	0	0	0	--	--		0	A			ATP5A1_uc010dnl.1_Missense_Mutation_p.A232S|ATP5A1_uc002lbs.1_Missense_Mutation_p.A232S|ATP5A1_uc002lbt.1_Missense_Mutation_p.A282S	189	GBM-27-1830-TP	p.A282S	C	AGTGGGGCAGCATCCGAGGCC	NM_004046	NP_004037	43667414	P25705	ATPA_HUMAN	0			7	934	-	A	A			Missense_Mutation	282						
ATP5B	0	broad.mit.edu	GRCh37	12	57033894	57033894	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01	TCGA-28-5207-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262030.3:c.1157C>T	p.Ser386Leu	p.S386L	ENST00000262030	NM_001686.3	386	tCg/tTg	0			1			A	S/L	uc001slr.2	protein_coding	YES	CCDS8924.1			1157/1590									ovary(1)	1	c.(1156-1158)TCG>TTG			Superfamily_domains:SSF52540,Pfam_domain:PF00006,TIGRFAM_domain:TIGR01039,Gene3D:3.40.50.300,hmmpanther:PTHR15184:SF32,hmmpanther:PTHR15184,HAMAP:MF_01347	mitochondrial ATP synthase beta subunit				ENSP00000262030		10-Aug	1.65E-05					1.50E-05		6.06E-05	rs747376704,COSM1299688	10-Aug	.		ENST00000262030	Transcript			angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	ENSG00000110955	g.chr12:57033894G>A	830			MODERATE		4.48	high	getma.org/?cm=msa&ty=f&p=ATPB_HUMAN&rb=185&re=405&var=S386L	getma.org/pdb.php?prot=ATPB_HUMAN&from=185&to=405&var=S386L	getma.org/?cm=var&var=hg19,12,57033894,G,A&fts=all	S386L	--	--	1																																			0,1	1		probably_damaging(0.989)	p.S386L	NM_001686	NP_001677		deleterious_low_confidence(0)	0,1	ATPB_HUMAN	ATP5B	HGNC	P06576	ATPB_HUMAN			Q0QEN7_HUMAN		8	1262	-			UPI000012644E	386					SNV	ATP5B,missense_variant,p.Ser386Leu,ENST00000262030,NM_001686.3;ATP5B,missense_variant,p.Ser375Leu,ENST00000552919,;ATP5B,missense_variant,p.Ser323Leu,ENST00000552959,;ATP5B,missense_variant,p.Ser89Leu,ENST00000552104,;ATP5B,missense_variant,p.Ser130Leu,ENST00000551570,;ATP5B,intron_variant,,ENST00000551020,;BAZ2A,upstream_gene_variant,,ENST00000179765,;BAZ2A,upstream_gene_variant,,ENST00000379441,;BAZ2A,upstream_gene_variant,,ENST00000551812,NM_013449.3;ATP5B,downstream_gene_variant,,ENST00000553007,;BAZ2A,upstream_gene_variant,,ENST00000549506,;SNORD59A,downstream_gene_variant,,ENST00000384304,NR_002737.1;ATP5B,non_coding_transcript_exon_variant,,ENST00000550162,;ATP5B,non_coding_transcript_exon_variant,,ENST00000547250,;ATP5B,non_coding_transcript_exon_variant,,ENST00000547808,;ATP5B,intron_variant,,ENST00000548474,;ATP5B,downstream_gene_variant,,ENST00000548647,;BAZ2A,upstream_gene_variant,,ENST00000550730,;ATP5B,upstream_gene_variant,,ENST00000551182,;	uc001slr.2	c.1157C>T	1208/1789	2	2			c.1157C>T						12	SNP	c.(1156-1158)TCG>TTG	17	17			ovary(1)	1	Broad	mitochondrial ATP synthase beta subunit			57033894		0.512	ENSG00000110955	1123	g.chr12:57033894G>A	angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism							24.653123	KEEP	9	6	-1	51	44	9	6	-1	37.559972	51	44	0.142857	1	0	0	0	0	1	0	0	0	--	--		0	A				216	GBM-28-5207-TP	p.S386L	G	AATGGCACGCGACAGTACAGT	NM_001686	NP_001677	57033894	P06576	ATPB_HUMAN	0			8	1262	-	A	A			Missense_Mutation	386						
ATP6AP1	0	broad.mit.edu	GRCh37	X	153663708	153663708	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5215-01	TCGA-28-5215-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369762.2:c.1060G>A	p.Ala354Thr	p.A354T	ENST00000369762	NM_001183.4	354	Gcc/Acc	0			1			A	A/T	uc004flf.1	protein_coding	YES	CCDS35451.1			1060/1413									ovary(3)|breast(1)	4	c.(1060-1062)GCC>ACC			hmmpanther:PTHR12471,hmmpanther:PTHR12471:SF2,Pfam_domain:PF05827	ATPase, H+ transporting, lysosomal accessory				ENSP00000358777		10-Sep	8.24E-06					2.10E-05			rs782737307,COSM3406156	10-Sep	.		ENST00000369762	Transcript			ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	ENSG00000071553	g.chrX:153663708G>A	868			MODERATE		2.395	medium	getma.org/?cm=msa&ty=f&p=VAS1_HUMAN&rb=44&re=449&var=A354T	NA	getma.org/?cm=var&var=hg19,X,153663708,G,A&fts=all	A354T	--	--	1																																		ATP6AP1_uc004flg.1_RNA|ATP6AP1_uc004flh.1_Missense_Mutation_p.A314T|GDI1_uc011mzo.1_5'Flank|GDI1_uc004fli.3_5'Flank	0,1	1		benign(0.01)	p.A354T	NM_001183	NP_001174		tolerated(0.07)	0,1	VAS1_HUMAN	ATP6AP1	HGNC	Q15904	VAS1_HUMAN			Q9H0C7_HUMAN		9	1121	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		UPI000013811E	354					SNV	ATP6AP1,missense_variant,p.Ala354Thr,ENST00000369762,NM_001183.4;ATP6AP1,missense_variant,p.Ala268Thr,ENST00000422890,;GDI1,upstream_gene_variant,,ENST00000447750,NM_001493.2;ATP6AP1,downstream_gene_variant,,ENST00000449556,;GDI1,upstream_gene_variant,,ENST00000475976,;GDI1,upstream_gene_variant,,ENST00000485143,;ATP6AP1,downstream_gene_variant,,ENST00000484908,;GDI1,upstream_gene_variant,,ENST00000471972,;ATP6AP1,3_prime_UTR_variant,,ENST00000455205,;ATP6AP1,3_prime_UTR_variant,,ENST00000429585,;ATP6AP1,non_coding_transcript_exon_variant,,ENST00000491569,;GDI1,upstream_gene_variant,,ENST00000491154,;GDI1,upstream_gene_variant,,ENST00000481304,;GDI1,upstream_gene_variant,,ENST00000489589,;GDI1,upstream_gene_variant,,ENST00000434049,;ATP6AP1,downstream_gene_variant,,ENST00000439372,;ATP6AP1,downstream_gene_variant,,ENST00000446552,;GDI1,upstream_gene_variant,,ENST00000445564,;GDI1,upstream_gene_variant,,ENST00000415109,;	uc004flf.1	c.1060G>A	1121/2099	2	2			c.1060G>A						23	SNP	c.(1060-1062)GCC>ACC	48	48			ovary(3)|breast(1)	4	Broad	ATPase, H+ transporting, lysosomal accessory			153663708		0.597	ENSG00000071553	1139	g.chrX:153663708G>A	ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism							69.425342	KEEP	18	17	-1	45	40	18	17	-1	73.508971	45	40	0.297297	1	0	0	0	0	1	0	0	0	--	--		0	A			ATP6AP1_uc004flg.1_RNA|ATP6AP1_uc004flh.1_Missense_Mutation_p.A314T|GDI1_uc011mzo.1_5'Flank|GDI1_uc004fli.3_5'Flank	222	GBM-28-5215-TP	p.A354T	G	TGGCTCCGTCGCCTACTTCAA	NM_001183	NP_001174	153663708	Q15904	VAS1_HUMAN	0			9	1121	+	A	A	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		Missense_Mutation	354						
ATP6V0A1	535	broad.mit.edu	GRCh37	17	40646356	40646356	+	synonymous_variant	Silent	SNP	G	G	A	rs142629560		TCGA-06-0189-01	TCGA-06-0189-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264649.6:c.1200G>A	p.Pro400=	p.P400=	ENST00000264649	NM_001130020.1	400	ccG/ccA	0	A:0.0011		1			A	P	uc002hzr.2	protein_coding		CCDS45684.1			1179/2514									pancreas(1)	1	c.(1177-1179)CCG>CCA			Pfam_domain:PF01496,PIRSF_domain:PIRSF001293,hmmpanther:PTHR11629,hmmpanther:PTHR11629:SF25	ATPase, H+ transporting, lysosomal V0 subunit a1			A:0	ENSP00000342951		22-Dec	8.24E-05	0.000678		0.000231		1.50E-05			rs142629560,COSM3402907,COSM3402906	22-Dec	common_variant		ENST00000343619	Transcript			ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	ENSG00000033627	g.chr17:40646356G>A	865			LOW								--	--	1																																		ATP6V0A1_uc002hzq.2_Silent_p.P393P|ATP6V0A1_uc002hzs.2_Silent_p.P400P|ATP6V0A1_uc010wgj.1_Silent_p.P350P|ATP6V0A1_uc010wgk.1_Silent_p.P350P|ATP6V0A1_uc010cyg.2_Silent_p.P39P|ATP6V0A1_uc010wgl.1_Silent_p.P252P	0,1,1				p.P393P	NM_001130021	NP_001123493			0,1,1	VPP1_HUMAN	ATP6V0A1	HGNC	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	K7EM24_HUMAN,K7ELZ6_HUMAN,F5H1T6_HUMAN,B7Z2J9_HUMAN		12	1346	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	UPI0000073AAB	393			Cytoplasmic (Potential).		SNV	ATP6V0A1,synonymous_variant,p.=,ENST00000343619,NM_001130021.1;ATP6V0A1,synonymous_variant,p.=,ENST00000264649,NM_001130020.1,NM_005177.3;ATP6V0A1,synonymous_variant,p.=,ENST00000544137,;ATP6V0A1,synonymous_variant,p.=,ENST00000546249,;ATP6V0A1,synonymous_variant,p.=,ENST00000393829,;ATP6V0A1,synonymous_variant,p.=,ENST00000537728,;ATP6V0A1,synonymous_variant,p.=,ENST00000585525,;MIR548AT,upstream_gene_variant,,ENST00000578714,;RP11-194N12.2,upstream_gene_variant,,ENST00000591343,;ATP6V0A1,downstream_gene_variant,,ENST00000589759,;ATP6V0A1,non_coding_transcript_exon_variant,,ENST00000586315,;	uc002hzr.2	c.1179G>A	1302/4128	2	2			c.1179G>A						17	SNP	c.(1177-1179)CCG>CCA	35	35			pancreas(1)	1	Broad	ATPase, H+ transporting, lysosomal V0 subunit a1			40646356		0.368	ENSG00000033627	1142	g.chr17:40646356G>A	ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity							6.398672	KEEP	9	7	-1	94	72	9	7	-1	34.495726	94	72	0.090361	1	0	0	0	0	0	0	1	0	--	--		0	A			ATP6V0A1_uc002hzq.2_Silent_p.P393P|ATP6V0A1_uc002hzs.2_Silent_p.P400P|ATP6V0A1_uc010wgj.1_Silent_p.P350P|ATP6V0A1_uc010wgk.1_Silent_p.P350P|ATP6V0A1_uc010cyg.2_Silent_p.P39P|ATP6V0A1_uc010wgl.1_Silent_p.P252P	42	GBM-06-0189-TP	p.P393P	G	TCATAGCTCCGTATACTATTA	NM_001130021	NP_001123493	40646356	Q93050	VPP1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(366;0.137)	12	1346	+	A	A		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	Silent	393			Cytoplasmic (Potential).			
ATP6V0A4	50617	broad.mit.edu	GRCh37	7	138441286	138441286	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G			TCGA-06-0125-01	TCGA-06-0125-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310018.2:c.640-1G>C		p.X214_splice	ENST00000310018	NM_020632.2	214		0			1			G		uc003vuf.2	protein_coding	YES	CCDS5849.1			640/2523									pancreas(1)	1	c.e8-1				ATPase, H+ transporting, lysosomal V0 subunit				ENSP00000308122											COSM2149388		.		ENST00000310018	Transcript	1		cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	ENSG00000105929	g.chr7:138441286C>G	866			HIGH	21-Aug							--	--	1																																		ATP6V0A4_uc003vug.2_Splice_Site_p.K214_splice|ATP6V0A4_uc003vuh.2_Splice_Site_p.K214_splice	1	1			p.K214_splice	NM_130841	NP_570856			1	VPP4_HUMAN	ATP6V0A4	HGNC	Q9HBG4	VPP4_HUMAN					8	878	-			UPI000013CDFD						SNV	ATP6V0A4,splice_acceptor_variant,,ENST00000310018,NM_020632.2,NM_130840.2;ATP6V0A4,splice_acceptor_variant,,ENST00000393054,NM_130841.2;ATP6V0A4,splice_acceptor_variant,,ENST00000353492,;ATP6V0A4,downstream_gene_variant,,ENST00000483139,;ATP6V0A4,upstream_gene_variant,,ENST00000478480,;	uc003vuf.2	c.640_splice	-/3135	5	3			c.640_splice						7	SNP	c.e8-1	12	12			pancreas(1)	1	Broad	ATPase, H+ transporting, lysosomal V0 subunit			138441286		0.284	ENSG00000105929	1144	g.chr7:138441286C>G	cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity							352.506545	KEEP	50	61	-1	114	118	50	61	-1	361.718406	114	118	0.325513	1	0	0	0	0	0	0	0	1	--	--		0	G			ATP6V0A4_uc003vug.2_Splice_Site_p.K214_splice|ATP6V0A4_uc003vuh.2_Splice_Site_p.K214_splice	12	GBM-06-0125-TP	p.K214_splice	C	TTTCTTCTTTCTGGAAAATCA	NM_130841	NP_570856	138441286	Q9HBG4	VPP4_HUMAN	0			8	878	-	G	G			Splice_Site							
ATP6V0A4	50617	broad.mit.edu	GRCh37	7	138440463	138440463	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310018.2:c.787G>A	p.Val263Ile	p.V263I	ENST00000310018	NM_020632.2	263	Gtc/Atc	0			1			T	V/I	uc003vuf.2	protein_coding	YES	CCDS5849.1			787/2523									pancreas(1)	1	c.(787-789)GTC>ATC			Pfam_domain:PF01496,PIRSF_domain:PIRSF001293,hmmpanther:PTHR11629,hmmpanther:PTHR11629:SF26	ATPase, H+ transporting, lysosomal V0 subunit				ENSP00000308122		22-Oct	1.65E-05		8.66E-05			1.50E-05			rs781671157,COSM2149637	22-Oct	.		ENST00000310018	Transcript	1		cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	ENSG00000105929	g.chr7:138440463C>T	866			MODERATE		1.56	low	getma.org/?cm=msa&ty=f&p=VPP4_HUMAN&rb=26&re=831&var=V263I	NA	getma.org/?cm=var&var=hg19,7,138440463,C,T&fts=all	V263I	--	--	1																																		ATP6V0A4_uc003vug.2_Missense_Mutation_p.V263I|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.V263I	0,1	1		benign(0.078)	p.V263I	NM_130841	NP_570856		tolerated(0.06)	0,1	VPP4_HUMAN	ATP6V0A4	HGNC	Q9HBG4	VPP4_HUMAN					9	1025	-			UPI000013CDFD	263			Cytoplasmic (Potential).		SNV	ATP6V0A4,missense_variant,p.Val263Ile,ENST00000310018,NM_020632.2,NM_130840.2;ATP6V0A4,missense_variant,p.Val263Ile,ENST00000393054,NM_130841.2;ATP6V0A4,missense_variant,p.Val263Ile,ENST00000353492,;ATP6V0A4,downstream_gene_variant,,ENST00000483139,;ATP6V0A4,non_coding_transcript_exon_variant,,ENST00000478480,;	uc003vuf.2	c.787G>A	1070/3135	2	2			c.787G>A						7	SNP	c.(787-789)GTC>ATC	46	46			pancreas(1)	1	Broad	ATPase, H+ transporting, lysosomal V0 subunit			138440463		0.522	ENSG00000105929	1144	g.chr7:138440463C>T	cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity							78.031248	KEEP	15	16	-1	33	39	15	16	-1	81.108804	33	39	0.308511	1	0	0	0	0	1	0	0	0	--	--		0	T			ATP6V0A4_uc003vug.2_Missense_Mutation_p.V263I|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.V263I	18	GBM-06-0137-TP	p.V263I	C	CTCACATTGACGCTCTCCAAC	NM_130841	NP_570856	138440463	Q9HBG4	VPP4_HUMAN	0			9	1025	-	T	T			Missense_Mutation	263			Cytoplasmic (Potential).			
ATP6V0A4	50617	broad.mit.edu	GRCh37	7	138453573	138453573	+	synonymous_variant	Silent	SNP	G	G	A	rs137955459		TCGA-06-5415-01	TCGA-06-5415-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310018.2:c.243C>T	p.Leu81=	p.L81=	ENST00000310018	NM_020632.2	81	ctC/ctT	0	T:0.0002		1			A	L	uc003vuf.2	protein_coding	YES	CCDS5849.1			243/2523									pancreas(1)	1	c.(241-243)CTC>CTT			Pfam_domain:PF01496,PIRSF_domain:PIRSF001293,hmmpanther:PTHR11629,hmmpanther:PTHR11629:SF26	ATPase, H+ transporting, lysosomal V0 subunit			T:0	ENSP00000308122		22-May	8.24E-06							6.07E-05	rs137955459,COSM2153233	22-May	.		ENST00000310018	Transcript	1		cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	ENSG00000105929	g.chr7:138453573G>A	866			LOW								--	--	1																																		ATP6V0A4_uc003vug.2_Silent_p.L81L|ATP6V0A4_uc003vuh.2_Silent_p.L81L	0,1	1			p.L81L	NM_130841	NP_570856			0,1	VPP4_HUMAN	ATP6V0A4	HGNC	Q9HBG4	VPP4_HUMAN					4	481	-			UPI000013CDFD	81			Cytoplasmic (Potential).		SNV	ATP6V0A4,synonymous_variant,p.=,ENST00000310018,NM_020632.2,NM_130840.2;ATP6V0A4,synonymous_variant,p.=,ENST00000393054,NM_130841.2;ATP6V0A4,synonymous_variant,p.=,ENST00000353492,;ATP6V0A4,non_coding_transcript_exon_variant,,ENST00000483139,;	uc003vuf.2	c.243C>T	526/3135	2	2			c.243C>T						7	SNP	c.(241-243)CTC>CTT	33	33			pancreas(1)	1	Broad	ATPase, H+ transporting, lysosomal V0 subunit			138453573		0.483	ENSG00000105929	1144	g.chr7:138453573G>A	cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity							74.653374	KEEP	17	16	-1	52	38	17	16	-1	79.982944	52	38	0.264151	1	0	0	0	0	0	0	1	0	--	--		0	A			ATP6V0A4_uc003vug.2_Silent_p.L81L|ATP6V0A4_uc003vuh.2_Silent_p.L81L	98	GBM-06-5415-TP	p.L81L	G	GGCTTTTCTCGAGCAACTGAA	NM_130841	NP_570856	138453573	Q9HBG4	VPP4_HUMAN	0			4	481	-	A	A			Silent	81			Cytoplasmic (Potential).			
ATP6V0A4	0	broad.mit.edu	GRCh37	7	138447096	138447096	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0615-01	TCGA-12-0615-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310018.2:c.501C>T	p.Thr167=	p.T167=	ENST00000310018	NM_020632.2	167	acC/acT	0			1			A	T	uc003vuf.2	protein_coding	YES	CCDS5849.1			501/2523									pancreas(1)	1	c.(499-501)ACC>ACT			Pfam_domain:PF01496,PIRSF_domain:PIRSF001293,hmmpanther:PTHR11629,hmmpanther:PTHR11629:SF26	ATPase, H+ transporting, lysosomal V0 subunit				ENSP00000308122		22-Jul									COSM3411635	22-Jul	.		ENST00000310018	Transcript	1		cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	ENSG00000105929	g.chr7:138447096G>A	866			LOW								--	--	1																																		ATP6V0A4_uc003vug.2_Silent_p.T167T|ATP6V0A4_uc003vuh.2_Silent_p.T167T	1	1			p.T167T	NM_130841	NP_570856			1	VPP4_HUMAN	ATP6V0A4	HGNC	Q9HBG4	VPP4_HUMAN					6	739	-			UPI000013CDFD	167			Cytoplasmic (Potential).		SNV	ATP6V0A4,synonymous_variant,p.=,ENST00000310018,NM_020632.2,NM_130840.2;ATP6V0A4,synonymous_variant,p.=,ENST00000393054,NM_130841.2;ATP6V0A4,synonymous_variant,p.=,ENST00000353492,;ATP6V0A4,non_coding_transcript_exon_variant,,ENST00000483139,;	uc003vuf.2	c.501C>T	784/3135	1	1			c.501C>T						7	SNP	c.(499-501)ACC>ACT	49	49			pancreas(1)	1	Broad	ATPase, H+ transporting, lysosomal V0 subunit			138447096		0.458	ENSG00000105929	1144	g.chr7:138447096G>A	cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity							-27.118841	KEEP	3	1	-1	75	82	3	1	-1	7.702531	75	82	0.028169	1	0	0	0	0	0	0	1	0	--	--		0	A			ATP6V0A4_uc003vug.2_Silent_p.T167T|ATP6V0A4_uc003vuh.2_Silent_p.T167T	117	GBM-12-0615-TP	p.T167T	G	CCAACTTTCCGGTCATATATG	NM_130841	NP_570856	138447096	Q9HBG4	VPP4_HUMAN	0			6	739	-	A	A			Silent	167			Cytoplasmic (Potential).			
ATP6V0A4	0	broad.mit.edu	GRCh37	7	138440516	138440516	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-27-1832-01	TCGA-27-1832-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310018.2:c.734C>A	p.Thr245Asn	p.T245N	ENST00000310018	NM_020632.2	245	aCt/aAt	0			1			T	T/N	uc003vuf.2	protein_coding	YES	CCDS5849.1			734/2523									pancreas(1)	1	c.(733-735)ACT>AAT			Pfam_domain:PF01496,PIRSF_domain:PIRSF001293,hmmpanther:PTHR11629,hmmpanther:PTHR11629:SF26	ATPase, H+ transporting, lysosomal V0 subunit				ENSP00000308122		22-Oct									COSM3411634	22-Oct	.		ENST00000310018	Transcript	1		cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	ENSG00000105929	g.chr7:138440516G>T	866			MODERATE		0.76	neutral	getma.org/?cm=msa&ty=f&p=VPP4_HUMAN&rb=26&re=831&var=T245N	NA	getma.org/?cm=var&var=hg19,7,138440516,G,T&fts=all	T245N	--	--	1																																		ATP6V0A4_uc003vug.2_Missense_Mutation_p.T245N|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.T245N	1	1		possibly_damaging(0.864)	p.T245N	NM_130841	NP_570856		tolerated(0.07)	1	VPP4_HUMAN	ATP6V0A4	HGNC	Q9HBG4	VPP4_HUMAN					9	972	-			UPI000013CDFD	245			Cytoplasmic (Potential).		SNV	ATP6V0A4,missense_variant,p.Thr245Asn,ENST00000310018,NM_020632.2,NM_130840.2;ATP6V0A4,missense_variant,p.Thr245Asn,ENST00000393054,NM_130841.2;ATP6V0A4,missense_variant,p.Thr245Asn,ENST00000353492,;ATP6V0A4,downstream_gene_variant,,ENST00000483139,;ATP6V0A4,non_coding_transcript_exon_variant,,ENST00000478480,;	uc003vuf.2	c.734C>A	1017/3135	2	2			c.734C>A						7	SNP	c.(733-735)ACT>AAT	41	41			pancreas(1)	1	Broad	ATPase, H+ transporting, lysosomal V0 subunit			138440516		0.498	ENSG00000105929	1144	g.chr7:138440516G>T	cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity							28.222416	KEEP	5	8	0.384615385	38	43	5	8	0.384615385	36.663004	38	43	0.164557	1	0	0	0	0	1	0	0	0	--	--		0	T			ATP6V0A4_uc003vug.2_Missense_Mutation_p.T245N|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.T245N	191	GBM-27-1832-TP	p.T245N	G	AGGGTAGACAGTGGCTCGAAA	NM_130841	NP_570856	138440516	Q9HBG4	VPP4_HUMAN	0			9	972	-	T	T			Missense_Mutation	245			Cytoplasmic (Potential).			
ATP6V0D1	0	broad.mit.edu	GRCh37	16	67477041	67477041	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-2572-01	TCGA-41-2572-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290949.3:c.522C>T	p.Asp174=	p.D174=	ENST00000290949	NM_004691.4	174	gaC/gaT	0			1			A	D	uc002ete.1	protein_coding	YES	CCDS10838.1			522/1056										0	c.(520-522)GAC>GAT			Superfamily_domains:0044678,Pfam_domain:PF01992,PIRSF_domain:PIRSF018497,hmmpanther:PTHR11028,hmmpanther:PTHR11028:SF1	ATPase, H+ transporting, lysosomal, V0 subunit				ENSP00000290949		8-Apr									COSM3402417	8-Apr	.		ENST00000290949	Transcript			ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex		ENSG00000159720	g.chr16:67477041G>A	13724			LOW								--	--	1																																		ATP6V0D1_uc010vjo.1_Silent_p.D215D|ATP6V0D1_uc010vjn.1_Silent_p.D97D	1	1			p.D174D	NM_004691	NP_004682			1	VA0D1_HUMAN	ATP6V0D1	HGNC	P61421	VA0D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)	R4GN72_HUMAN,C6SUN6_HUMAN		4	622	-		Ovarian(137;0.0563)	UPI0000138041	174					SNV	ATP6V0D1,synonymous_variant,p.=,ENST00000290949,NM_004691.4;ATP6V0D1,synonymous_variant,p.=,ENST00000540149,;ATP6V0D1,synonymous_variant,p.=,ENST00000602876,;ATP6V0D1,synonymous_variant,p.=,ENST00000565835,;ATP6V0D1,synonymous_variant,p.=,ENST00000564615,;ATP6V0D1,upstream_gene_variant,,ENST00000567694,;ATP6V0D1,3_prime_UTR_variant,,ENST00000426604,;ATP6V0D1,3_prime_UTR_variant,,ENST00000563064,;ATP6V0D1,3_prime_UTR_variant,,ENST00000564191,;ATP6V0D1,3_prime_UTR_variant,,ENST00000566322,;ATP6V0D1,3_prime_UTR_variant,,ENST00000561852,;ATP6V0D1,3_prime_UTR_variant,,ENST00000564788,;ATP6V0D1,3_prime_UTR_variant,,ENST00000568101,;ATP6V0D1,non_coding_transcript_exon_variant,,ENST00000567170,;ATP6V0D1,upstream_gene_variant,,ENST00000568620,;ATP6V0D1,upstream_gene_variant,,ENST00000563305,;	uc002ete.1	c.522C>T	673/1716	2	2			c.522C>T						16	SNP	c.(520-522)GAC>GAT	48	48				0	Broad	ATPase, H+ transporting, lysosomal, V0 subunit			67477041		0.567	ENSG00000159720	1147	g.chr16:67477041G>A	ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex								257.132435	KEEP	49	57	-1	89	74	49	57	-1	259.391995	89	74	0.39485	1	0	0	0	0	0	0	1	0	--	--		0	A			ATP6V0D1_uc010vjo.1_Silent_p.D215D|ATP6V0D1_uc010vjn.1_Silent_p.D97D	251	GBM-41-2572-TP	p.D174D	G	TGTTCATCTCGTCAAGGTCCT	NM_004691	NP_004682	67477041	P61421	VA0D1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)	4	622	-	A	A		Ovarian(137;0.0563)	Silent	174						
ATP6V0D1	0	broad.mit.edu	GRCh37	16	67472549	67472549	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01	TCGA-41-2573-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290949.3:c.938G>A	p.Gly313Asp	p.G313D	ENST00000290949	NM_004691.4	313	gGt/gAt	0			1			T	G/D	uc002ete.1	protein_coding	YES	CCDS10838.1			938/1056										0	c.(937-939)GGT>GAT			Superfamily_domains:0044678,Pfam_domain:PF01992,PIRSF_domain:PIRSF018497,hmmpanther:PTHR11028,hmmpanther:PTHR11028:SF1	ATPase, H+ transporting, lysosomal, V0 subunit				ENSP00000290949		8-Aug									COSM3402416	8-Aug	.		ENST00000290949	Transcript			ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex		ENSG00000159720	g.chr16:67472549C>T	13724			MODERATE		3.24	medium	getma.org/?cm=msa&ty=f&p=VA0D1_HUMAN&rb=15&re=349&var=G313D	NA	getma.org/?cm=var&var=hg19,16,67472549,C,T&fts=all	G313D	--	--	1																																		ATP6V0D1_uc010vjo.1_Missense_Mutation_p.G354D|ATP6V0D1_uc010vjn.1_Missense_Mutation_p.G236D	1	1		possibly_damaging(0.787)	p.G313D	NM_004691	NP_004682		deleterious(0)	1	VA0D1_HUMAN	ATP6V0D1	HGNC	P61421	VA0D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)	R4GN72_HUMAN,C6SUN6_HUMAN		8	1038	-		Ovarian(137;0.0563)	UPI0000138041	313					SNV	ATP6V0D1,missense_variant,p.Gly313Asp,ENST00000290949,NM_004691.4;ATP6V0D1,missense_variant,p.Gly354Asp,ENST00000540149,;ATP6V0D1,missense_variant,p.Gly236Asp,ENST00000602876,;ATP6V0D1,missense_variant,p.Gly194Asp,ENST00000565835,;HSD11B2,downstream_gene_variant,,ENST00000326152,NM_000196.3;ATP6V0D1,downstream_gene_variant,,ENST00000564615,;ATP6V0D1,non_coding_transcript_exon_variant,,ENST00000567694,;HSD11B2,downstream_gene_variant,,ENST00000567684,;ATP6V0D1,3_prime_UTR_variant,,ENST00000426604,;ATP6V0D1,non_coding_transcript_exon_variant,,ENST00000568620,;ATP6V0D1,non_coding_transcript_exon_variant,,ENST00000563305,;ATP6V0D1,downstream_gene_variant,,ENST00000563064,;ATP6V0D1,downstream_gene_variant,,ENST00000564191,;ATP6V0D1,downstream_gene_variant,,ENST00000566322,;ATP6V0D1,downstream_gene_variant,,ENST00000561852,;HSD11B2,downstream_gene_variant,,ENST00000566606,;ATP6V0D1,downstream_gene_variant,,ENST00000567170,;ATP6V0D1,downstream_gene_variant,,ENST00000564788,;ATP6V0D1,downstream_gene_variant,,ENST00000568101,;AC009061.1,downstream_gene_variant,,ENST00000366223,;	uc002ete.1	c.938G>A	1089/1716	2	2			c.938G>A						16	SNP	c.(937-939)GGT>GAT	29	29				0	Broad	ATPase, H+ transporting, lysosomal, V0 subunit			67472549		0.547	ENSG00000159720	1147	g.chr16:67472549C>T	ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex								108.475393	KEEP	20	22	-1	52	47	20	22	-1	112.549992	52	47	0.309524	1	0	0	0	0	1	0	0	0	--	--		0	T			ATP6V0D1_uc010vjo.1_Missense_Mutation_p.G354D|ATP6V0D1_uc010vjn.1_Missense_Mutation_p.G236D	252	GBM-41-2573-TP	p.G313D	C	ATAGAAGACACCAAAGTGGAA	NM_004691	NP_004682	67472549	P61421	VA0D1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)	8	1038	-	T	T		Ovarian(137;0.0563)	Missense_Mutation	313						
ATP6V0D2	0	broad.mit.edu	GRCh37	8	87162356	87162356	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5215-01	TCGA-28-5215-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285393.3:c.655C>T	p.Arg219Cys	p.R219C	ENST00000285393	NM_152565.1	219	Cgt/Tgt	0			1			T	R/C	uc003ydp.1	protein_coding	YES	CCDS6241.1			655/1053										0	c.(655-657)CGT>TGT			hmmpanther:PTHR11028:SF2,hmmpanther:PTHR11028,Pfam_domain:PF01992,PIRSF_domain:PIRSF018497,Superfamily_domains:0044678	ATPase, H+ transporting, lysosomal 38kDa, V0				ENSP00000285393		8-Jun	1.65E-05			0.000116	0.000151				rs769025984,COSM3413148	8-Jun	.		ENST00000285393	Transcript			ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding	ENSG00000147614	g.chr8:87162356C>T	18266			MODERATE		3.595	high	getma.org/?cm=msa&ty=f&p=VA0D2_HUMAN&rb=15&re=348&var=R219C	NA	getma.org/?cm=var&var=hg19,8,87162356,C,T&fts=all	R219C	--	--	1																																			0,1	1		probably_damaging(0.985)	p.R219C	NM_152565	NP_689778		deleterious(0)	0,1	VA0D2_HUMAN	ATP6V0D2	HGNC	Q8N8Y2	VA0D2_HUMAN			E5RIR3_HUMAN,E5RHJ7_HUMAN		6	724	+			UPI0000051F69	219					SNV	ATP6V0D2,missense_variant,p.Arg219Cys,ENST00000285393,NM_152565.1;CTD-3118D11.2,intron_variant,,ENST00000522679,;CTD-3118D11.2,downstream_gene_variant,,ENST00000524253,;	uc003ydp.1	c.655C>T	797/2446	2	2			c.655C>T						8	SNP	c.(655-657)CGT>TGT	29	29				0	Broad	ATPase, H+ transporting, lysosomal 38kDa, V0			87162356		0.408	ENSG00000147614	1148	g.chr8:87162356C>T	ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding							127.34605	KEEP	33	48	-1	149	133	33	48	-1	150.21788	149	133	0.216828	1	0	0	0	0	1	0	0	0	--	--		0	T				222	GBM-28-5215-TP	p.R219C	C	GGCCGACAGACGTGCTTTTAT	NM_152565	NP_689778	87162356	Q8N8Y2	VA0D2_HUMAN	0			6	724	+	T	T			Missense_Mutation	219						
ATP6V1A	0	broad.mit.edu	GRCh37	3	113503555	113503555	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-16-0861-01	TCGA-16-0861-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273398.3:c.439A>G	p.Ile147Val	p.I147V	ENST00000273398	NM_001690.3	147	Atc/Gtc	0			1			G	I/V	uc003eao.2	protein_coding	YES	CCDS2976.1			439/1854									ovary(2)|skin(1)	3	c.(439-441)ATC>GTC			HAMAP:MF_00309,hmmpanther:PTHR15184:SF7,hmmpanther:PTHR15184,TIGRFAM_domain:TIGR01042	ATPase, H+ transporting, lysosomal V1 subunit A				ENSP00000273398		15-May									COSM3408145	15-May	.		ENST00000273398	Transcript			ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	ENSG00000114573	g.chr3:113503555A>G	851			MODERATE		-0.145	neutral	getma.org/?cm=msa&ty=f&p=VATA_HUMAN&rb=84&re=228&var=I147V	getma.org/pdb.php?prot=VATA_HUMAN&from=84&to=228&var=I147V	getma.org/?cm=var&var=hg19,3,113503555,A,G&fts=all	I147V	--	--	1																																		ATP6V1A_uc011bik.1_Missense_Mutation_p.I114V	1	1		benign(0.001)	p.I147V	NM_001690	NP_001681		tolerated(1)	1	VATA_HUMAN	ATP6V1A	HGNC	P38606	VATA_HUMAN			C9JVW8_HUMAN,C9JA17_HUMAN,B7Z2V6_HUMAN,B7Z1R5_HUMAN		5	505	+			UPI000013809A	147					SNV	ATP6V1A,missense_variant,p.Ile147Val,ENST00000273398,NM_001690.3;ATP6V1A,missense_variant,p.Ile114Val,ENST00000538620,;ATP6V1A,missense_variant,p.Ile147Val,ENST00000475322,;ATP6V1A,missense_variant,p.Ile114Val,ENST00000496747,;ATP6V1A,3_prime_UTR_variant,,ENST00000470455,;	uc003eao.2	c.439A>G	547/4591	3	3			c.439A>G						3	SNP	c.(439-441)ATC>GTC	2	2			ovary(2)|skin(1)	3	Broad	ATPase, H+ transporting, lysosomal V1 subunit A			113503555		0.373	ENSG00000114573	1151	g.chr3:113503555A>G	ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism							-14.360703	KEEP	3	3	-1	83	63	3	3	-1	15.605485	83	63	0.044444	1	0	0	0	0	1	0	0	0	--	--		0	G			ATP6V1A_uc011bik.1_Missense_Mutation_p.I114V	156	GBM-16-0861-TP	p.I147V	A	TGGTAGTCATATCACTGGCGG	NM_001690	NP_001681	113503555	P38606	VATA_HUMAN	0			5	505	+	G	G			Missense_Mutation	147						
ATP6V1C1	0	broad.mit.edu	GRCh37	8	104075258	104075258	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-28-5218-01	TCGA-28-5218-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395862.3:c.717C>G	p.His239Gln	p.H239Q	ENST00000395862	NM_001695.4	239	caC/caG	0			1			G	H/Q	uc003ykz.3	protein_coding	YES	CCDS6296.1			717/1149										0	c.(715-717)CAC>CAG			hmmpanther:PTHR10137:SF3,hmmpanther:PTHR10137,Pfam_domain:PF03223,Gene3D:3.30.70.100,Superfamily_domains:0049812	ATPase, H+ transporting, lysosomal V1 subunit				ENSP00000379203		13-Sep									COSM3412617	13-Sep	.		ENST00000395862	Transcript			ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism	ENSG00000155097	g.chr8:104075258C>G	856			MODERATE		0.915	low	getma.org/?cm=msa&ty=f&p=VATC1_HUMAN&rb=4&re=370&var=H239Q	getma.org/pdb.php?prot=VATC1_HUMAN&from=4&to=370&var=H239Q	getma.org/?cm=var&var=hg19,8,104075258,C,G&fts=all	H239Q	--	--	1																																		ATP6V1C1_uc010mbz.2_Missense_Mutation_p.H164Q|ATP6V1C1_uc003yla.2_Missense_Mutation_p.H239Q|ATP6V1C1_uc011lhl.1_Missense_Mutation_p.H164Q	1	1		benign(0.005)	p.H239Q	NM_001695	NP_001686		tolerated(0.3)	1	VATC1_HUMAN	ATP6V1C1	HGNC	P21283	VATC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)		E7EV59_HUMAN		9	962	+	Lung NSC(17;0.000427)|all_lung(17;0.000533)		UPI0000049C2A	239					SNV	ATP6V1C1,missense_variant,p.His239Gln,ENST00000395862,NM_001695.4;ATP6V1C1,missense_variant,p.His239Gln,ENST00000518738,;ATP6V1C1,missense_variant,p.His164Gln,ENST00000518857,;ATP6V1C1,missense_variant,p.His164Gln,ENST00000521514,;ATP6V1C1,non_coding_transcript_exon_variant,,ENST00000521671,;ATP6V1C1,upstream_gene_variant,,ENST00000518959,;	uc003ykz.3	c.717C>G	876/5612	3	3			c.717C>G						8	SNP	c.(715-717)CAC>CAG	64	64				0	Broad	ATPase, H+ transporting, lysosomal V1 subunit			104075258		0.328	ENSG00000155097	1154	g.chr8:104075258C>G	ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism							277.346035	KEEP	41	52	-1	104	112	41	52	-1	286.487696	104	112	0.304833	1	0	0	0	0	1	0	0	0	--	--		0	G			ATP6V1C1_uc010mbz.2_Missense_Mutation_p.H164Q|ATP6V1C1_uc003yla.2_Missense_Mutation_p.H239Q|ATP6V1C1_uc011lhl.1_Missense_Mutation_p.H164Q	224	GBM-28-5218-TP	p.H239Q	C	ACTTCAGACACAAAGCCAGAG	NM_001695	NP_001686	104075258	P21283	VATC1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)		9	962	+	G	G	Lung NSC(17;0.000427)|all_lung(17;0.000533)		Missense_Mutation	239						
ATP6V1C1	528		GRCh37	8	104064965	104064965	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000395862.3:c.388A>C	p.Thr130Pro	p.T130P	ENST00000395862	NM_001695.4	130	Act/Cct	0																																																																																																																																																																																																																																												
ATP6V1C2	0	broad.mit.edu	GRCh37	2	10912727	10912727	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2521-01	TCGA-27-2521-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000272238.4:c.629G>A	p.Arg210Gln	p.R210Q	ENST00000272238	NM_001039362.1	210	cGa/cAa	0			1			A	R/Q	uc002ras.2	protein_coding	YES	CCDS42653.1			629/1284						not_provided			ovary(1)	1	c.(628-630)CGA>CAA			hmmpanther:PTHR10137,hmmpanther:PTHR10137:SF1,Gene3D:3.30.70.100,Pfam_domain:PF03223,Superfamily_domains:0049812	vacuolar H+ ATPase C2 isoform a				ENSP00000272238		14-Aug	2.47E-05				0.000151	3.00E-05			rs267598832,COSM3406775,COSM3406774	14-Aug	.		ENST00000272238	Transcript			ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		ENSG00000143882	g.chr2:10912727G>A	18264			MODERATE		3.11	medium	getma.org/?cm=msa&ty=f&p=VATC2_HUMAN&rb=4&re=417&var=R210Q	getma.org/pdb.php?prot=VATC2_HUMAN&from=4&to=417&var=R210Q	getma.org/?cm=var&var=hg19,2,10912727,G,A&fts=all	R210Q	--	--	1																																		ATP6V1C2_uc002rat.2_Missense_Mutation_p.R210Q	1,1,1	1		probably_damaging(0.99)	p.R210Q	NM_001039362	NP_001034451		deleterious(0)	0,1,1	VATC2_HUMAN	ATP6V1C2	HGNC	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)			8	738	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		UPI0000208E71	210					SNV	ATP6V1C2,missense_variant,p.Arg210Gln,ENST00000381661,NM_144583.3;ATP6V1C2,missense_variant,p.Arg210Gln,ENST00000272238,NM_001039362.1;RP11-791G15.2,upstream_gene_variant,,ENST00000606907,;	uc002ras.2	c.629G>A	738/1565	2	2			c.629G>A						2	SNP	c.(628-630)CGA>CAA	48	48			ovary(1)	1	Broad	vacuolar H+ ATPase C2 isoform a			10912727		0.507	ENSG00000143882	1155	g.chr2:10912727G>A	ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		NSCLC(188;1042 2136 10807 16813 47705)			NSCLC(188;1042 2136 10807 16813 47705)			-41.609965	KEEP	14	14	-1	228	238	14	14	-1	51.651601	228	238	0.055679	1	0	0	0	0	1	0	0	0	--	--		0	A			ATP6V1C2_uc002rat.2_Missense_Mutation_p.R210Q	200	GBM-27-2521-TP	p.R210Q	G	GTGGTCCCTCGATCAACCAAG	NM_001039362	NP_001034451	10912727	Q8NEY4	VATC2_HUMAN	0		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	8	738	+	A	A	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		Missense_Mutation	210						
ATP6V1G1	9550	broad.mit.edu	GRCh37	9	117359986	117359986	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0648-01	TCGA-06-0648-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374050.3:c.320G>A	p.Arg107Gln	p.R107Q	ENST00000374050	NM_004888.3	107	cGg/cAg	0			1			A	R/Q	uc004bjc.2	protein_coding	YES	CCDS6807.1			320/357										0	c.(319-321)CGG>CAG			hmmpanther:PTHR12713:SF12,hmmpanther:PTHR12713,TIGRFAM_domain:TIGR01147	vacuolar H+ ATPase G1				ENSP00000363162		3-Mar									COSM2151386	3-Mar	.		ENST00000374050	Transcript			cellular iron ion homeostasis|insulin receptor signaling pathway|proton transport|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances	ENSG00000136888	g.chr9:117359986G>A	864			MODERATE		0.145	neutral	getma.org/?cm=msa&ty=f&p=VATG1_HUMAN&rb=3&re=107&var=R107Q	NA	getma.org/?cm=var&var=hg19,9,117359986,G,A&fts=all	R107Q	--	--	1																																			1	1		benign(0.003)	p.R107Q	NM_004888	NP_004879		tolerated(0.17)	1	VATG1_HUMAN	ATP6V1G1	HGNC	O75348	VATG1_HUMAN					3	445	+			UPI00001380C2	107					SNV	ATP6V1G1,missense_variant,p.Arg107Gln,ENST00000374050,NM_004888.3;	uc004bjc.2	c.320G>A	413/1080	1	1			c.320G>A						9	SNP	c.(319-321)CGG>CAG	55	55				0	Broad	vacuolar H+ ATPase G1			117359986		0.478	ENSG00000136888	1160	g.chr9:117359986G>A	cellular iron ion homeostasis|insulin receptor signaling pathway|proton transport|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances							140.537991	KEEP	20	24	-1	35	28	20	24	-1	140.917411	35	28	0.43299	1	0	0	0	0	1	0	0	0	--	--		0	A				61	GBM-06-0648-TP	p.R107Q	G	TGTGACATTCGGCCAGAAATC	NM_004888	NP_004879	117359986	O75348	VATG1_HUMAN	0			3	445	+	A	A			Missense_Mutation	107						
ATP7A	538		GRCh37	X	77296145	77296145	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000341514.6:c.3715G>T	p.Ala1239Ser	p.A1239S	ENST00000341514	NM_000052.5	1239	Gct/Tct	0																																																																																																																																																																																																																																												
ATP7B	0	broad.mit.edu	GRCh37	13	52516659	52516659	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000242839.4:c.3275C>T	p.Thr1092Met	p.T1092M	ENST00000242839	NM_000053.3	1092	aCg/aTg	0	A:0.0002		1			A	T/M	uc001vfw.2	protein_coding	YES	CCDS41892.1			3275/4398									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(3274-3276)ACG>ATG			Gene3D:3.40.1110.10,Pfam_domain:PF00702,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF239,TIGRFAM_domain:TIGR01525	ATPase, Cu++ transporting, beta polypeptide			A:0.0001	ENSP00000242839		15/21	9.92E-05	0.000102	0.000173			0.000105		0.000121	rs368545738,COSM3399416	15/21	.	Wilson_disease	ENST00000242839	Transcript	1		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	ENSG00000123191	g.chr13:52516659G>A	870			MODERATE		1.755	low	getma.org/?cm=msa&ty=f&p=ATP7B_HUMAN&rb=1021&re=1279&var=T1092M	getma.org/pdb.php?prot=ATP7B_HUMAN&from=1021&to=1279&var=T1092M	getma.org/?cm=var&var=hg19,13,52516659,G,A&fts=all	T1092M	--	--	1																																		ATP7B_uc010adv.2_Missense_Mutation_p.T662M|ATP7B_uc001vfx.2_Missense_Mutation_p.T885M|ATP7B_uc001vfy.2_Missense_Mutation_p.T981M|ATP7B_uc010tgt.1_Missense_Mutation_p.T1027M|ATP7B_uc010tgu.1_Missense_Mutation_p.T1044M|ATP7B_uc010tgv.1_Missense_Mutation_p.T1014M|ATP7B_uc001vfv.2_Missense_Mutation_p.T364M|ATP7B_uc010tgs.1_Missense_Mutation_p.T303M	0,1	1		benign(0.239)	p.T1092M	NM_000053	NP_000044		tolerated(0.12)	0,1	ATP7B_HUMAN	ATP7B	HGNC	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	G1FFF2_HUMAN,D3KCZ0_HUMAN,C8BMD5_HUMAN,A6YQZ1_HUMAN		15	3432	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	UPI00001FCE15	1092			Cytoplasmic (Potential).		SNV	ATP7B,missense_variant,p.Thr1092Met,ENST00000242839,NM_000053.3;ATP7B,missense_variant,p.Thr981Met,ENST00000400366,NM_001243182.1;ATP7B,missense_variant,p.Thr885Met,ENST00000344297,NM_001005918.2;ATP7B,missense_variant,p.Thr1027Met,ENST00000418097,;ATP7B,missense_variant,p.Thr1014Met,ENST00000448424,;ATP7B,missense_variant,p.Thr662Met,ENST00000400370,;ATP7B,missense_variant,p.Thr303Met,ENST00000417240,;ATP7B,non_coding_transcript_exon_variant,,ENST00000482841,;ATP7B,downstream_gene_variant,,ENST00000466629,;	uc001vfw.2	c.3275C>T	3432/6638	1	1			c.3275C>T						13	SNP	c.(3274-3276)ACG>ATG	49	49			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	ATPase, Cu++ transporting, beta polypeptide			52516659	Wilson_disease	0.572	ENSG00000123191	1164	g.chr13:52516659G>A	ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding							-0.87963	KEEP	4	4	-1	39	30	4	4	-1	11.564988	39	30	0.074627	1	0	0	0	0	1	0	0	0	--	--		0	A			ATP7B_uc010adv.2_Missense_Mutation_p.T662M|ATP7B_uc001vfx.2_Missense_Mutation_p.T885M|ATP7B_uc001vfy.2_Missense_Mutation_p.T981M|ATP7B_uc010tgt.1_Missense_Mutation_p.T1027M|ATP7B_uc010tgu.1_Missense_Mutation_p.T1044M|ATP7B_uc010tgv.1_Missense_Mutation_p.T1014M|ATP7B_uc001vfv.2_Missense_Mutation_p.T364M|ATP7B_uc010tgs.1_Missense_Mutation_p.T303M	142	GBM-14-1034-TP	p.T1092M	G	CTGGAAGTCCGTGCAGTATCC	NM_000053	NP_000044	52516659	P35670	ATP7B_HUMAN	0		GBM - Glioblastoma multiforme(99;5.25e-08)	15	3432	-	A	A		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	Missense_Mutation	1092			Cytoplasmic (Potential).			
ATP8A1	10396	broad.mit.edu	GRCh37	4	42505527	42505527	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-2562-01	TCGA-06-2562-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381668.5:c.2091C>G	p.His697Gln	p.H697Q	ENST00000381668	NM_006095.2	697	caC/caG	0		A:0.0008	1	A:0		C	H/Q	uc003gwr.2	protein_coding	YES	CCDS3466.1			2091/3495									skin(2)|central_nervous_system(1)	3	c.(2089-2091)CAC>CAG			hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF56,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR01652,Pfam_domain:PF12710,Superfamily_domains:SSF56784	ATPase, aminophospholipid transporter (APLT),	Phosphatidylserine(DB00144)	A:0		ENSP00000371084	A:0	24/37	8.24E-06					1.53E-05			rs202148347,COSM2152775,COSM2152776	24/37	.		ENST00000381668	Transcript		A:0.0002	ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	ENSG00000124406	g.chr4:42505527G>C	13531			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=AT8A1_HUMAN&rb=406&re=810&var=H697Q	getma.org/pdb.php?prot=AT8A1_HUMAN&from=406&to=810&var=H697Q	getma.org/?cm=var&var=hg19,4,42505527,G,C&fts=all	H697Q	--	--	1																																		ATP8A1_uc003gwq.2_5'UTR|ATP8A1_uc003gws.2_Missense_Mutation_p.H682Q	0,1,1	1		possibly_damaging(0.455)	p.H697Q	NM_006095	NP_006086	A:0	deleterious(0.02)	0,1,1	AT8A1_HUMAN	ATP8A1	HGNC	Q9Y2Q0	AT8A1_HUMAN			H0YAJ4_HUMAN		24	2323	-			UPI0000125063	697			Cytoplasmic (Potential).		SNV	ATP8A1,missense_variant,p.His697Gln,ENST00000381668,NM_006095.2;ATP8A1,missense_variant,p.His682Gln,ENST00000264449,NM_001105529.1;ATP8A1,missense_variant,p.His48Gln,ENST00000514372,;	uc003gwr.2	c.2091C>G	2323/8270	3	3			c.2091C>G						4	SNP	c.(2089-2091)CAC>CAG	58	58			skin(2)|central_nervous_system(1)	3	Broad	ATPase, aminophospholipid transporter (APLT),		Phosphatidylserine(DB00144)	42505527		0.274	ENSG00000124406	1165	g.chr4:42505527G>C	ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity							102.626796	KEEP	16	20	-1	23	43	16	20	-1	104.029471	23	43	0.361446	1	0	0	0	0	1	0	0	0	--	--		0	C			ATP8A1_uc003gwq.2_5'UTR|ATP8A1_uc003gws.2_Missense_Mutation_p.H682Q	85	GBM-06-2562-TP	p.H697Q	G	GTTTGCAGGAGTGTCCTGTAT	NM_006095	NP_006086	42505527	Q9Y2Q0	AT8A1_HUMAN	0			24	2323	-	C	C			Missense_Mutation	697			Cytoplasmic (Potential).			
ATP8A1	10396		GRCh37	4	42581956	42581956	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000381668.5:c.874C>T	p.Arg292Trp	p.R292W	ENST00000381668	NM_006095.2	292	Cgg/Tgg	0																																																																																																																																																																																																																																												
ATP8A2	51761	broad.mit.edu	GRCh37	13	26349058	26349058	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-02-2485-01	TCGA-02-2485-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381655.2:c.2640G>T	p.Leu880Phe	p.L880F	ENST00000381655	NM_016529.4	880	ttG/ttT	0			1			T	L/F	uc001uqk.2	protein_coding	YES	CCDS41873.1			2640/3567									ovary(2)|large_intestine(1)|skin(1)	4	c.(2638-2640)TTG>TTT			hmmpanther:PTHR24092:SF45,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01652,Superfamily_domains:0049473	ATPase, aminophospholipid transporter-like,				ENSP00000371070		27/37									COSM3399299	27/37	.		ENST00000381655	Transcript	1		ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	ENSG00000132932	g.chr13:26349058G>T	13533			MODERATE		3.185	medium	getma.org/?cm=msa&ty=f&p=AT8A2_HUMAN&rb=791&re=990&var=L840F	NA	getma.org/?cm=var&var=hg19,13,26349058,G,T&fts=all	L840F	--	--	1																																		ATP8A2_uc010tdi.1_Missense_Mutation_p.L840F|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.L430F	1	1		probably_damaging(0.997)	p.L880F	NM_016529	NP_057613		deleterious(0)	1	AT8A2_HUMAN	ATP8A2	HGNC	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)			27	2782	+		Breast(139;0.0201)|Lung SC(185;0.0225)	UPI0000229592	840			Helical; (Potential).		SNV	ATP8A2,missense_variant,p.Leu880Phe,ENST00000381655,NM_016529.4;ATP8A2,missense_variant,p.Leu840Phe,ENST00000255283,;ATP8A2,non_coding_transcript_exon_variant,,ENST00000491840,;ATP8A2,3_prime_UTR_variant,,ENST00000281620,;	uc001uqk.2	c.2640G>T	2782/9575	1	1			c.2640G>T						13	SNP	c.(2638-2640)TTG>TTT	3	3			ovary(2)|large_intestine(1)|skin(1)	4	Broad	ATPase, aminophospholipid transporter-like,			26349058		0.388	ENSG00000132932	1166	g.chr13:26349058G>T	ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity							-33.091791	KEEP	2	4	0.333333333	94	107	2	4	0.333333333	10.306724	94	107	0.028249	1	0	0	0	0	1	0	0	0	--	--		0	T			ATP8A2_uc010tdi.1_Missense_Mutation_p.L840F|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.L430F	7	GBM-02-2485-TP	p.L880F	G	AGTGCATCTTGTACTGCTTCT	NM_016529	NP_057613	26349058	Q9NTI2	AT8A2_HUMAN	0		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	27	2782	+	T	T		Breast(139;0.0201)|Lung SC(185;0.0225)	Missense_Mutation	840			Helical; (Potential).			
ATP8A2	0	broad.mit.edu	GRCh37	13	26411335	26411335	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-12-0821-01	TCGA-12-0821-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381655.2:c.2789T>A	p.Ile930Asn	p.I930N	ENST00000381655	NM_016529.4	930	aTc/aAc	0			1			A	I/N	uc001uqk.2	protein_coding	YES	CCDS41873.1			2789/3567									ovary(2)|large_intestine(1)|skin(1)	4	c.(2788-2790)ATC>AAC			hmmpanther:PTHR24092:SF45,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01652,Superfamily_domains:0049473	ATPase, aminophospholipid transporter-like,				ENSP00000371070		29/37									COSM3399300	29/37	.		ENST00000381655	Transcript	1		ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	ENSG00000132932	g.chr13:26411335T>A	13533			MODERATE		3.645	high	getma.org/?cm=msa&ty=f&p=AT8A2_HUMAN&rb=791&re=990&var=I890N	NA	getma.org/?cm=var&var=hg19,13,26411335,T,A&fts=all	I890N	--	--	1																																		ATP8A2_uc010tdi.1_Missense_Mutation_p.I865N|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.I480N	1	1		probably_damaging(1)	p.I930N	NM_016529	NP_057613		deleterious(0)	1	AT8A2_HUMAN	ATP8A2	HGNC	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)			29	2931	+		Breast(139;0.0201)|Lung SC(185;0.0225)	UPI0000229592	890			Helical; (Potential).		SNV	ATP8A2,missense_variant,p.Ile930Asn,ENST00000381655,NM_016529.4;ATP8A2,missense_variant,p.Ile865Asn,ENST00000255283,;ATP8A2,non_coding_transcript_exon_variant,,ENST00000491840,;ATP8A2,3_prime_UTR_variant,,ENST00000281620,;	uc001uqk.2	c.2789T>A	2931/9575	2	2			c.2789T>A						13	SNP	c.(2788-2790)ATC>AAC	25	25			ovary(2)|large_intestine(1)|skin(1)	4	Broad	ATPase, aminophospholipid transporter-like,			26411335		0.502	ENSG00000132932	1166	g.chr13:26411335T>A	ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity							264.427132	KEEP	68	38	-1	88	59	68	38	-1	265.700207	88	59	0.417062	1	0	0	0	0	1	0	0	0	--	--		0	A			ATP8A2_uc010tdi.1_Missense_Mutation_p.I865N|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.I480N	123	GBM-12-0821-TP	p.I930N	T	ACTCTGGGAATCTTTGAGAGG	NM_016529	NP_057613	26411335	Q9NTI2	AT8A2_HUMAN	0		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	29	2931	+	A	A		Breast(139;0.0201)|Lung SC(185;0.0225)	Missense_Mutation	890			Helical; (Potential).			
ATP8A2	0	broad.mit.edu	GRCh37	13	26273468	26273468	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381655.2:c.2369C>T	p.Ala790Val	p.A790V	ENST00000381655	NM_016529.4	790	gCg/gTg	0			1			T	A/V	uc001uqk.2	protein_coding	YES	CCDS41873.1			2369/3567									ovary(2)|large_intestine(1)|skin(1)	4	c.(2368-2370)GCG>GTG			hmmpanther:PTHR24092:SF45,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01652,Pfam_domain:PF12710,Gene3D:3.40.50.1000,Superfamily_domains:SSF56784	ATPase, aminophospholipid transporter-like,				ENSP00000371070		25/37	3.31E-05				0.000308	3.05E-05			rs542606008,COSM3399297	25/37	.		ENST00000381655	Transcript	1		ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	ENSG00000132932	g.chr13:26273468C>T	13533			MODERATE		1.68	low	getma.org/?cm=msa&ty=f&p=AT8A2_HUMAN&rb=385&re=790&var=A750V	getma.org/pdb.php?prot=AT8A2_HUMAN&from=385&to=790&var=A750V	getma.org/?cm=var&var=hg19,13,26273468,C,T&fts=all	A750V	--	--	1																																		ATP8A2_uc010tdi.1_Missense_Mutation_p.A750V|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.A340V	0,1	1		possibly_damaging(0.599)	p.A790V	NM_016529	NP_057613		tolerated(0.25)	0,1	AT8A2_HUMAN	ATP8A2	HGNC	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)			25	2511	+		Breast(139;0.0201)|Lung SC(185;0.0225)	UPI0000229592	750			Cytoplasmic (Potential).		SNV	ATP8A2,missense_variant,p.Ala790Val,ENST00000381655,NM_016529.4;ATP8A2,missense_variant,p.Ala750Val,ENST00000255283,;ATP8A2,non_coding_transcript_exon_variant,,ENST00000491840,;ATP8A2,missense_variant,p.Ala630Val,ENST00000281620,;	uc001uqk.2	c.2369C>T	2511/9575	2	2			c.2369C>T						13	SNP	c.(2368-2370)GCG>GTG	17	17			ovary(2)|large_intestine(1)|skin(1)	4	Broad	ATPase, aminophospholipid transporter-like,			26273468		0.522	ENSG00000132932	1166	g.chr13:26273468C>T	ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity							90.567388	KEEP	11	20	-1	20	20	11	20	-1	90.778333	20	20	0.439394	1	0	0	0	0	1	0	0	0	--	--		0	T			ATP8A2_uc010tdi.1_Missense_Mutation_p.A750V|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.A340V	159	GBM-19-1390-TP	p.A790V	C	TCGTGCAAAGCGGTCATATGC	NM_016529	NP_057613	26273468	Q9NTI2	AT8A2_HUMAN	0		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	25	2511	+	T	T		Breast(139;0.0201)|Lung SC(185;0.0225)	Missense_Mutation	750			Cytoplasmic (Potential).			
ATP8A2	0	broad.mit.edu	GRCh37	13	26343355	26343355	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6192-01	TCGA-76-6192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381655.2:c.2556C>T	p.Tyr852=	p.Y852=	ENST00000381655	NM_016529.4	852	taC/taT	0	T:0	T:0	1	T:0		T	Y	uc001uqk.2	protein_coding	YES	CCDS41873.1			2556/3567									ovary(2)|large_intestine(1)|skin(1)	4	c.(2554-2556)TAC>TAT			hmmpanther:PTHR24092:SF45,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01652,Gene3D:3.40.50.1000,Superfamily_domains:SSF56784	ATPase, aminophospholipid transporter-like,		T:0	T:0.0001	ENSP00000371070	T:0.001	26/37	4.12E-05					1.51E-05	0.00112	0.000194	rs374883147,COSM3399298	26/37	.		ENST00000381655	Transcript	1	T:0.0002	ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	ENSG00000132932	g.chr13:26343355C>T	13533			LOW								--	--	1																																		ATP8A2_uc010tdi.1_Silent_p.Y812Y|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Silent_p.Y402Y	0,1	1			p.Y852Y	NM_016529	NP_057613	T:0		0,1	AT8A2_HUMAN	ATP8A2	HGNC	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)			26	2698	+		Breast(139;0.0201)|Lung SC(185;0.0225)	UPI0000229592	812			Cytoplasmic (Potential).		SNV	ATP8A2,synonymous_variant,p.=,ENST00000381655,NM_016529.4;ATP8A2,synonymous_variant,p.=,ENST00000255283,;ATP8A2,non_coding_transcript_exon_variant,,ENST00000491840,;ATP8A2,3_prime_UTR_variant,,ENST00000281620,;	uc001uqk.2	c.2556C>T	2698/9575	2	2			c.2556C>T						13	SNP	c.(2554-2556)TAC>TAT	19	19			ovary(2)|large_intestine(1)|skin(1)	4	Broad	ATPase, aminophospholipid transporter-like,			26343355		0.582	ENSG00000132932	1166	g.chr13:26343355C>T	ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity							56.239817	KEEP	10	13	-1	21	37	10	13	-1	59.351695	21	37	0.283784	1	0	0	0	0	0	0	1	0	--	--		0	T			ATP8A2_uc010tdi.1_Silent_p.Y812Y|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Silent_p.Y402Y	275	GBM-76-6192-TP	p.Y852Y	C	ACTCGGATTACGCCATCGCAC	NM_016529	NP_057613	26343355	Q9NTI2	AT8A2_HUMAN	0		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	26	2698	+	T	T		Breast(139;0.0201)|Lung SC(185;0.0225)	Silent	812			Cytoplasmic (Potential).			
ATP8B1	0	broad.mit.edu	GRCh37	18	55328473	55328473	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283684.4:c.2640G>A	p.Val880=	p.V880=	ENST00000283684		880	gtG/gtA	0			1			T	V	uc002lgw.2	protein_coding		CCDS11965.1			2640/3756									breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10	c.(2638-2640)GTG>GTA			hmmpanther:PTHR24092:SF48,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01494,Gene3D:3.40.50.1000,Pfam_domain:PF12710,Superfamily_domains:SSF56784	ATPase, class I, type 8B, member 1				ENSP00000283684		21/27									COSM3403581	21/27	.	Byler_disease	ENST00000283684	Transcript	1		ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	ENSG00000081923	g.chr18:55328473C>T	3706			LOW								--	--	1																																		uc002lgu.1_Intron|uc002lgv.1_Intron	1				p.V880V	NM_005603	NP_005594			1	AT8B1_HUMAN	ATP8B1	HGNC	O43520	AT8B1_HUMAN			K7ERI0_HUMAN,K7EQC4_HUMAN		21	2640	-		Colorectal(73;0.229)	UPI000013DD54	880			Cytoplasmic (Potential).		SNV	ATP8B1,synonymous_variant,p.=,ENST00000536015,NM_005603.4;ATP8B1,synonymous_variant,p.=,ENST00000283684,;RP11-35G9.3,intron_variant,,ENST00000599199,;RP11-35G9.5,intron_variant,,ENST00000588925,;RP11-35G9.3,intron_variant,,ENST00000592201,;RP11-35G9.3,intron_variant,,ENST00000591854,;	uc002lgw.2	c.2640G>A	2640/5818	1	1			c.2640G>A						18	SNP	c.(2638-2640)GTG>GTA	10	10			breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10	Broad	ATPase, class I, type 8B, member 1			55328473	Byler_disease	0.582	ENSG00000081923	1167	g.chr18:55328473C>T	ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			950			950	69.317905	KEEP	28	13	-1	58	29	28	13	-1	74.880268	58	29	0.263636	1	0	0	0	0	0	0	1	0	--	--		0	T			uc002lgu.1_Intron|uc002lgv.1_Intron	131	GBM-12-5301-TP	p.V880V	C	TGTACCTCTTCACCAGGTCCA	NM_005603	NP_005594	55328473	O43520	AT8B1_HUMAN	0			21	2640	-	T	T		Colorectal(73;0.229)	Silent	880			Cytoplasmic (Potential).			
ATP8B3	0	broad.mit.edu	GRCh37	19	1792112	1792112	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01	TCGA-32-1982-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310127.6:c.2078G>A	p.Arg693Gln	p.R693Q	ENST00000310127	NM_138813.3	693	cGg/cAg	0		T:0	1	T:0		T	R/Q	uc002ltw.2	protein_coding	YES	CCDS45901.1			2078/3903										0	c.(2077-2079)CGG>CAG			Gene3D:3.40.1110.10,Pfam_domain:PF12710,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF44,Superfamily_domains:SSF56784,Superfamily_domains:SSF81660,TIGRFAM_domain:TIGR01652	ATPase, class I, type 8B, member 3		T:0		ENSP00000311336	T:0	19/29	5.04E-05							0.000258	rs547170926,COSM3403931,COSM3403930	19/29	.		ENST00000310127	Transcript		T:0.0002	ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	ENSG00000130270	g.chr19:1792112C>T	13535			MODERATE		4.125	high	getma.org/?cm=msa&ty=f&p=AT8B3_HUMAN&rb=492&re=948&var=R693Q	NA	getma.org/?cm=var&var=hg19,19,1792112,C,T&fts=all	R693Q	--	--	1																																		ATP8B3_uc002ltv.2_Missense_Mutation_p.R646Q|ATP8B3_uc002ltx.2_RNA	0,1,1	1		probably_damaging(0.999)	p.R693Q	NM_138813	NP_620168	T:0.001	deleterious(0)	0,1,1	AT8B3_HUMAN	ATP8B3	HGNC	O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)			19	2312	-		Hepatocellular(1079;0.137)	UPI0000074660	693			Cytoplasmic (Potential).		SNV	ATP8B3,missense_variant,p.Arg693Gln,ENST00000539485,;ATP8B3,missense_variant,p.Arg693Gln,ENST00000310127,NM_138813.3;ATP8B3,missense_variant,p.Arg646Gln,ENST00000525591,NM_001178002.2;ATP8B3,3_prime_UTR_variant,,ENST00000531925,;ATP8B3,upstream_gene_variant,,ENST00000526847,;	uc002ltw.2	c.2078G>A	2317/5095	1	1			c.2078G>A						19	SNP	c.(2077-2079)CGG>CAG	10	10				0	Broad	ATPase, class I, type 8B, member 3			1792112		0.677	ENSG00000130270	1169	g.chr19:1792112C>T	ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity							7.463846	KEEP	4	0	-1	8	4	4	0	-1	8.296001	8	4	0.230769	1	0	0	0	0	1	0	0	0	--	--		0	T			ATP8B3_uc002ltv.2_Missense_Mutation_p.R646Q|ATP8B3_uc002ltx.2_RNA	232	GBM-32-1982-TP	p.R693Q	C	GCACAGTGTCCGCAGGGTCTC	NM_138813	NP_620168	1792112	O60423	AT8B3_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	19	2312	-	T	T		Hepatocellular(1079;0.137)	Missense_Mutation	693			Cytoplasmic (Potential).			
ATP8B3	0	broad.mit.edu	GRCh37	19	1805392	1805392	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-4719-01	TCGA-32-4719-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310127.6:c.885G>T	p.Lys295Asn	p.K295N	ENST00000310127	NM_138813.3	295	aaG/aaT	0			1			A	K/N	uc002ltw.2	protein_coding	YES	CCDS45901.1			885/3903										0	c.(883-885)AAG>AAT			Pfam_domain:PF00122,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF44,TIGRFAM_domain:TIGR01652	ATPase, class I, type 8B, member 3				ENSP00000311336		29-Oct									COSM3403939,COSM3403938	29-Oct	.		ENST00000310127	Transcript			ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	ENSG00000130270	g.chr19:1805392C>A	13535			MODERATE		1.105	low	getma.org/?cm=msa&ty=f&p=AT8B3_HUMAN&rb=188&re=454&var=K295N	NA	getma.org/?cm=var&var=hg19,19,1805392,C,A&fts=all	K295N	--	--	1																																		ATP8B3_uc002ltv.2_Missense_Mutation_p.K242N|ATP8B3_uc002ltx.2_RNA|ATP8B3_uc002lty.1_Missense_Mutation_p.K43N|ATP8B3_uc002ltz.1_Missense_Mutation_p.K242N	1,1	1		benign(0.405)	p.K295N	NM_138813	NP_620168		tolerated(0.23)	1,1	AT8B3_HUMAN	ATP8B3	HGNC	O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)			10	1119	-		Hepatocellular(1079;0.137)	UPI0000074660	295			Cytoplasmic (Potential).		SNV	ATP8B3,missense_variant,p.Lys295Asn,ENST00000539485,;ATP8B3,missense_variant,p.Lys295Asn,ENST00000310127,NM_138813.3;ATP8B3,missense_variant,p.Lys242Asn,ENST00000525591,NM_001178002.2;ATP8B3,missense_variant,p.Lys242Asn,ENST00000526092,;ATP8B3,missense_variant,p.Lys258Asn,ENST00000533993,;ATP8B3,downstream_gene_variant,,ENST00000587160,;ATP8B3,3_prime_UTR_variant,,ENST00000531925,;ATP8B3,non_coding_transcript_exon_variant,,ENST00000533107,;	uc002ltw.2	c.885G>T	1124/5095	1	1			c.885G>T						19	SNP	c.(883-885)AAG>AAT	59	59				0	Broad	ATPase, class I, type 8B, member 3			1805392		0.478	ENSG00000130270	1169	g.chr19:1805392C>A	ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity							5.944858	KEEP	2	0	-1	3	5	2	0	-1	6.583901	3	5	0.222222	1	0	0	0	0	1	0	0	0	--	--		0	A			ATP8B3_uc002ltv.2_Missense_Mutation_p.K242N|ATP8B3_uc002ltx.2_RNA|ATP8B3_uc002lty.1_Missense_Mutation_p.K43N|ATP8B3_uc002ltz.1_Missense_Mutation_p.K242N	248	GBM-32-4719-TP	p.K295N	C	ACGCCATCTTCTTTATAGTGG	NM_138813	NP_620168	1805392	O60423	AT8B3_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1119	-	A	A		Hepatocellular(1079;0.137)	Missense_Mutation	295			Cytoplasmic (Potential).			
ATP8B3	0	broad.mit.edu	GRCh37	19	1795945	1795945	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4926-01	TCGA-76-4926-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310127.6:c.1984G>A	p.Ala662Thr	p.A662T	ENST00000310127	NM_138813.3	662	Gcc/Acc	0			1			T	A/T	uc002ltw.2	protein_coding	YES	CCDS45901.1			1984/3903										0	c.(1984-1986)GCC>ACC			Gene3D:3.40.1110.10,Pfam_domain:PF12710,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF44,Superfamily_domains:SSF81660,TIGRFAM_domain:TIGR01652	ATPase, class I, type 8B, member 3				ENSP00000311336		18/29	3.31E-05					6.09E-05			rs769225269,COSM3403936,COSM3403935	18/29	.		ENST00000310127	Transcript			ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	ENSG00000130270	g.chr19:1795945C>T	13535			MODERATE		4.12	high	getma.org/?cm=msa&ty=f&p=AT8B3_HUMAN&rb=492&re=948&var=A662T	NA	getma.org/?cm=var&var=hg19,19,1795945,C,T&fts=all	A662T	--	--	1																																OREG0025127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ATP8B3_uc002ltv.2_Missense_Mutation_p.A615T|ATP8B3_uc002ltx.2_RNA	0,1,1	1		probably_damaging(0.999)	p.A662T	NM_138813	NP_620168		deleterious(0)	0,1,1	AT8B3_HUMAN	ATP8B3	HGNC	O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)			18	2218	-		Hepatocellular(1079;0.137)	UPI0000074660	662			Cytoplasmic (Potential).		SNV	ATP8B3,missense_variant,p.Ala662Thr,ENST00000539485,;ATP8B3,missense_variant,p.Ala662Thr,ENST00000310127,NM_138813.3;ATP8B3,missense_variant,p.Ala615Thr,ENST00000525591,NM_001178002.2;ATP8B3,downstream_gene_variant,,ENST00000526092,;ATP8B3,3_prime_UTR_variant,,ENST00000531925,;ATP8B3,downstream_gene_variant,,ENST00000533107,;	uc002ltw.2	c.1984G>A	2223/5095	2	2			c.1984G>A						19	SNP	c.(1984-1986)GCC>ACC	21	21				0	Broad	ATPase, class I, type 8B, member 3			1795945		0.627	ENSG00000130270	1169	g.chr19:1795945C>T	ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity							-29.715617	KEEP	5	4	-1	107	99	5	4	-1	11.332875	107	99	0.039106	1	0	0	0	0	1	0	0	0	--	--		0	T	OREG0025127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ATP8B3_uc002ltv.2_Missense_Mutation_p.A615T|ATP8B3_uc002ltx.2_RNA	266	GBM-76-4926-TP	p.A662T	C	ACCGTGTCGGCGCCCTTGGTG	NM_138813	NP_620168	1795945	O60423	AT8B3_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	18	2218	-	T	T		Hepatocellular(1079;0.137)	Missense_Mutation	662			Cytoplasmic (Potential).			
ATP8B4	79895	broad.mit.edu	GRCh37	15	50226374	50226374	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs114705901	by1000genomes	TCGA-06-0649-01	TCGA-06-0649-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284509.6:c.1293A>C	p.Lys431Asn	p.K431N	ENST00000284509	NM_024837.3	431	aaA/aaC	0			1			G	K/N	uc001zxu.2	protein_coding	YES	CCDS32238.1			1293/3579									skin(3)|ovary(2)|breast(2)|large_intestine(1)	8	c.(1291-1293)AAA>AAC			hmmpanther:PTHR24092:SF46,hmmpanther:PTHR24092,Pfam_domain:PF12710,TIGRFAM_domain:TIGR01652	ATPase class I type 8B member 4				ENSP00000284509		15/28									COSM3401795	15/28	.		ENST00000284509	Transcript			ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	ENSG00000104043	g.chr15:50226374T>G	13536			MODERATE		0.97	low	getma.org/?cm=msa&ty=f&p=AT8B4_HUMAN&rb=389&re=824&var=K431N	getma.org/pdb.php?prot=AT8B4_HUMAN&from=389&to=824&var=K431N	getma.org/?cm=var&var=hg19,15,50226374,T,G&fts=all	K431N	--	--	1																																		ATP8B4_uc010ber.2_Missense_Mutation_p.K304N|ATP8B4_uc010ufd.1_Missense_Mutation_p.K304N|ATP8B4_uc010ufe.1_RNA	1	1		benign(0.004)	p.K431N	NM_024837	NP_079113		tolerated(0.4)	1	AT8B4_HUMAN	ATP8B4	HGNC	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	H0YMB5_HUMAN		15	1435	-		all_lung(180;0.00183)	UPI0000055904	431			Cytoplasmic (Potential).		SNV	ATP8B4,missense_variant,p.Lys431Asn,ENST00000284509,NM_024837.3;ATP8B4,missense_variant,p.Lys431Asn,ENST00000559829,;ATP8B4,missense_variant,p.Lys431Asn,ENST00000557955,;ATP8B4,3_prime_UTR_variant,,ENST00000559726,;ATP8B4,3_prime_UTR_variant,,ENST00000558906,;ATP8B4,upstream_gene_variant,,ENST00000558458,;	uc001zxu.2	c.1293A>C	1435/5677	3	3			c.1293A>C						15	SNP	c.(1291-1293)AAA>AAC	64	64			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8	Broad	ATPase class I type 8B member 4			50226374		0.348	ENSG00000104043	1170	g.chr15:50226374T>G	ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity							-2.246827	KEEP	5	1	-1	31	33	5	1	-1	9.969481	31	33	0.064516	1	0	0	0	0	1	0	0	0	--	--		0	G			ATP8B4_uc010ber.2_Missense_Mutation_p.K304N|ATP8B4_uc010ufd.1_Missense_Mutation_p.K304N|ATP8B4_uc010ufe.1_RNA	62	GBM-06-0649-TP	p.K431N	T	CCACAGGCTCTTTTTCCTGTA	NM_024837	NP_079113	50226374	Q8TF62	AT8B4_HUMAN	0		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	15	1435	-	G	G		all_lung(180;0.00183)	Missense_Mutation	431			Cytoplasmic (Potential).			
ATP8B4	79895	broad.mit.edu	GRCh37	15	50254197	50254197	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0878-01	TCGA-06-0878-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284509.6:c.1264G>T	p.Asp422Tyr	p.D422Y	ENST00000284509	NM_024837.3	422	Gat/Tat	0			1			A	D/Y	uc001zxu.2	protein_coding	YES	CCDS32238.1			1264/3579									skin(3)|ovary(2)|breast(2)|large_intestine(1)	8	c.(1264-1266)GAT>TAT			hmmpanther:PTHR24092:SF46,hmmpanther:PTHR24092,Gene3D:3.40.1110.10,Pfam_domain:PF12710,TIGRFAM_domain:TIGR01652	ATPase class I type 8B member 4				ENSP00000284509		14/28									COSM2152211	14/28	.		ENST00000284509	Transcript			ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	ENSG00000104043	g.chr15:50254197C>A	13536			MODERATE		1.175	low	getma.org/?cm=msa&ty=f&p=AT8B4_HUMAN&rb=389&re=824&var=D422Y	getma.org/pdb.php?prot=AT8B4_HUMAN&from=389&to=824&var=D422Y	getma.org/?cm=var&var=hg19,15,50254197,C,A&fts=all	D422Y	--	--	1																																		ATP8B4_uc010ber.2_Missense_Mutation_p.D295Y|ATP8B4_uc010ufd.1_Missense_Mutation_p.D295Y|ATP8B4_uc010ufe.1_RNA	1	1		benign(0.226)	p.D422Y	NM_024837	NP_079113		deleterious(0.01)	1	AT8B4_HUMAN	ATP8B4	HGNC	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	H0YMB5_HUMAN		14	1406	-		all_lung(180;0.00183)	UPI0000055904	422			Cytoplasmic (Potential).		SNV	ATP8B4,missense_variant,p.Asp422Tyr,ENST00000284509,NM_024837.3;ATP8B4,missense_variant,p.Asp422Tyr,ENST00000559829,;ATP8B4,missense_variant,p.Asp422Tyr,ENST00000557955,;ATP8B4,3_prime_UTR_variant,,ENST00000559726,;ATP8B4,3_prime_UTR_variant,,ENST00000558906,;	uc001zxu.2	c.1264G>T	1406/5677	2	2			c.1264G>T						15	SNP	c.(1264-1266)GAT>TAT	30	30			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8	Broad	ATPase class I type 8B member 4			50254197		0.264	ENSG00000104043	1170	g.chr15:50254197C>A	ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity							44.420121	KEEP	8	10	0.555555556	20	20	8	10	0.555555556	45.570658	20	20	0.34	1	0	0	0	0	1	0	0	0	--	--		0	A			ATP8B4_uc010ber.2_Missense_Mutation_p.D295Y|ATP8B4_uc010ufd.1_Missense_Mutation_p.D295Y|ATP8B4_uc010ufe.1_RNA	74	GBM-06-0878-TP	p.D422Y	C	GTCTTCTGATCCAGGTCATCA	NM_024837	NP_079113	50254197	Q8TF62	AT8B4_HUMAN	0		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	14	1406	-	A	A		all_lung(180;0.00183)	Missense_Mutation	422			Cytoplasmic (Potential).			
ATP8B4	79895	broad.mit.edu	GRCh37	15	50339659	50339659	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-2563-01	TCGA-06-2563-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284509.6:c.90T>A	p.Asp30Glu	p.D30E	ENST00000284509	NM_024837.3	30	gaT/gaA	0			1			T	D/E	uc001zxu.2	protein_coding	YES	CCDS32238.1			90/3579								p.D30D(1)	skin(3)|ovary(2)|breast(2)|large_intestine(1)	8	c.(88-90)GAT>GAA			hmmpanther:PTHR24092:SF46,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01652,Superfamily_domains:0049473	ATPase class I type 8B member 4				ENSP00000284509		28-Apr									COSM2152838	28-Apr	.		ENST00000284509	Transcript			ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	ENSG00000104043	g.chr15:50339659A>T	13536			MODERATE		1.315	low	getma.org/?cm=msa&ty=f&p=AT8B4_HUMAN&rb=1&re=82&var=D30E	NA	getma.org/?cm=var&var=hg19,15,50339659,A,T&fts=all	D30E	--	--	1																																		ATP8B4_uc010ber.2_5'UTR|ATP8B4_uc010ufd.1_5'UTR|ATP8B4_uc010ufe.1_RNA	1	1		benign(0.118)	p.D30E	NM_024837	NP_079113		tolerated(0.12)	1	AT8B4_HUMAN	ATP8B4	HGNC	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	H0YMB5_HUMAN		4	232	-		all_lung(180;0.00183)	UPI0000055904	30			Cytoplasmic (Potential).		SNV	ATP8B4,missense_variant,p.Asp30Glu,ENST00000284509,NM_024837.3;ATP8B4,missense_variant,p.Asp30Glu,ENST00000559829,;ATP8B4,missense_variant,p.Asp30Glu,ENST00000558829,;ATP8B4,upstream_gene_variant,,ENST00000558024,;ATP8B4,intron_variant,,ENST00000560437,;ATP8B4,upstream_gene_variant,,ENST00000558959,;ATP8B4,missense_variant,p.Asp30Glu,ENST00000559726,;ATP8B4,missense_variant,p.Asp30Glu,ENST00000558906,;ATP8B4,missense_variant,p.Asp30Glu,ENST00000557955,;	uc001zxu.2	c.90T>A	232/5677	2	2			c.90T>A						15	SNP	c.(88-90)GAT>GAA	44	44		p.D30D(1)	skin(3)|ovary(2)|breast(2)|large_intestine(1)	8	Broad	ATPase class I type 8B member 4			50339659		0.373	ENSG00000104043	1170	g.chr15:50339659A>T	ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity							106.697353	KEEP	21	17	-1	40	23	21	17	-1	108.144014	40	23	0.368421	1	0	0	0	0	1	0	0	0	--	--		0	T			ATP8B4_uc010ber.2_5'UTR|ATP8B4_uc010ufd.1_5'UTR|ATP8B4_uc010ufe.1_RNA	86	GBM-06-2563-TP	p.D30E	A	GGATACGATTATCCTGGAAAA	NM_024837	NP_079113	50339659	Q8TF62	AT8B4_HUMAN	0		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	4	232	-	T	T		all_lung(180;0.00183)	Missense_Mutation	30			Cytoplasmic (Potential).			
ATP8B4	0	broad.mit.edu	GRCh37	15	50211036	50211036	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284509.6:c.2035G>T	p.Glu679Ter	p.E679*	ENST00000284509	NM_024837.3	679	Gaa/Taa	0			1			A	E/*	uc001zxu.2	protein_coding	YES	CCDS32238.1			2035/3579									skin(3)|ovary(2)|breast(2)|large_intestine(1)	8	c.(2035-2037)GAA>TAA			hmmpanther:PTHR24092:SF46,hmmpanther:PTHR24092,Gene3D:3.40.50.1000,Pfam_domain:PF12710,TIGRFAM_domain:TIGR01652,Superfamily_domains:SSF56784	ATPase class I type 8B member 4				ENSP00000284509		19/28									COSM3401794	19/28	.		ENST00000284509	Transcript			ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	ENSG00000104043	g.chr15:50211036C>A	13536			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,15,50211036,C,A&fts=all	E679*	--	--	1																																		ATP8B4_uc010ber.2_Nonsense_Mutation_p.E552*|ATP8B4_uc010ufd.1_Nonsense_Mutation_p.E489*|ATP8B4_uc010ufe.1_RNA	1	1			p.E679*	NM_024837	NP_079113			1	AT8B4_HUMAN	ATP8B4	HGNC	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	H0YMB5_HUMAN		19	2177	-		all_lung(180;0.00183)	UPI0000055904	679			Cytoplasmic (Potential).		SNV	ATP8B4,stop_gained,p.Glu679Ter,ENST00000284509,NM_024837.3;ATP8B4,stop_gained,p.Glu679Ter,ENST00000559829,;ATP8B4,stop_gained,p.Glu679Ter,ENST00000557955,;ATP8B4,splice_region_variant,,ENST00000559726,;ATP8B4,splice_region_variant,,ENST00000558906,;ATP8B4,upstream_gene_variant,,ENST00000559998,;ATP8B4,upstream_gene_variant,,ENST00000561104,;ATP8B4,downstream_gene_variant,,ENST00000558458,;	uc001zxu.2	c.2035G>T	2177/5677	5	2			c.2035G>T						15	SNP	c.(2035-2037)GAA>TAA	43	43			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8	Broad	ATPase class I type 8B member 4			50211036		0.318	ENSG00000104043	1170	g.chr15:50211036C>A	ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity							101.176474	KEEP	24	14	0.368421053	50	44	24	14	0.368421053	105.542957	50	44	0.29661	1	0	0	0	0	0	1	0	0	--	--		0	A			ATP8B4_uc010ber.2_Nonsense_Mutation_p.E552*|ATP8B4_uc010ufd.1_Nonsense_Mutation_p.E489*|ATP8B4_uc010ufe.1_RNA	159	GBM-19-1390-TP	p.E679*	C	TTCAAGTTACCTTGTTTGTCT	NM_024837	NP_079113	50211036	Q8TF62	AT8B4_HUMAN	0		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	19	2177	-	A	A		all_lung(180;0.00183)	Nonsense_Mutation	679			Cytoplasmic (Potential).			
ATP8B4	0	broad.mit.edu	GRCh37	15	50209193	50209193	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-4068-01	TCGA-19-4068-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284509.6:c.2079C>T	p.Asp693=	p.D693=	ENST00000284509	NM_024837.3	693	gaC/gaT	0			1			A	D	uc001zxu.2	protein_coding	YES	CCDS32238.1			2079/3579									skin(3)|ovary(2)|breast(2)|large_intestine(1)	8	c.(2077-2079)GAC>GAT			hmmpanther:PTHR24092:SF46,hmmpanther:PTHR24092,Gene3D:3.40.50.1000,Pfam_domain:PF12710,TIGRFAM_domain:TIGR01652	ATPase class I type 8B member 4				ENSP00000284509		20/28	2.47E-05	9.61E-05				3.00E-05			rs781742233,COSM2156452	20/28	.		ENST00000284509	Transcript			ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	ENSG00000104043	g.chr15:50209193G>A	13536			LOW								--	--	1																																		ATP8B4_uc010ber.2_Silent_p.D566D|ATP8B4_uc010ufd.1_Silent_p.D503D|ATP8B4_uc010ufe.1_RNA	0,1	1			p.D693D	NM_024837	NP_079113			0,1	AT8B4_HUMAN	ATP8B4	HGNC	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	H0YMB5_HUMAN		20	2221	-		all_lung(180;0.00183)	UPI0000055904	693			Cytoplasmic (Potential).		SNV	ATP8B4,synonymous_variant,p.=,ENST00000284509,NM_024837.3;ATP8B4,synonymous_variant,p.=,ENST00000559829,;ATP8B4,synonymous_variant,p.=,ENST00000557955,;ATP8B4,3_prime_UTR_variant,,ENST00000559726,;ATP8B4,3_prime_UTR_variant,,ENST00000558906,;ATP8B4,non_coding_transcript_exon_variant,,ENST00000559998,;ATP8B4,non_coding_transcript_exon_variant,,ENST00000561104,;ATP8B4,downstream_gene_variant,,ENST00000558458,;	uc001zxu.2	c.2079C>T	2221/5677	1	1			c.2079C>T						15	SNP	c.(2077-2079)GAC>GAT	59	59			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8	Broad	ATPase class I type 8B member 4			50209193		0.333	ENSG00000104043	1170	g.chr15:50209193G>A	ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity							219.710559	KEEP	34	54	-1	72	58	34	54	-1	221.02613	72	58	0.40884	1	0	0	0	0	0	0	1	0	--	--		0	A			ATP8B4_uc010ber.2_Silent_p.D566D|ATP8B4_uc010ufd.1_Silent_p.D503D|ATP8B4_uc010ufe.1_RNA	168	GBM-19-4068-TP	p.D693D	G	CATTCATGTCGTCAGTCAGCA	NM_024837	NP_079113	50209193	Q8TF62	AT8B4_HUMAN	0		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	20	2221	-	A	A		all_lung(180;0.00183)	Silent	693			Cytoplasmic (Potential).			
ATP8B4	0	broad.mit.edu	GRCh37	15	50190419	50190419	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-26-5133-01	TCGA-26-5133-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284509.6:c.2319T>A	p.Asn773Lys	p.N773K	ENST00000284509	NM_024837.3	773	aaT/aaA	0			1			T	N/K	uc001zxu.2	protein_coding	YES	CCDS32238.1			2319/3579									skin(3)|ovary(2)|breast(2)|large_intestine(1)	8	c.(2317-2319)AAT>AAA			hmmpanther:PTHR24092:SF46,hmmpanther:PTHR24092,Pfam_domain:PF12710,TIGRFAM_domain:TIGR01652,Superfamily_domains:SSF56784	ATPase class I type 8B member 4				ENSP00000284509		22/28									COSM2156967	22/28	.		ENST00000284509	Transcript			ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	ENSG00000104043	g.chr15:50190419A>T	13536			MODERATE		-0.54	neutral	getma.org/?cm=msa&ty=f&p=AT8B4_HUMAN&rb=389&re=824&var=N773K	NA	getma.org/?cm=var&var=hg19,15,50190419,A,T&fts=all	N773K	--	--	1																																		ATP8B4_uc010ber.2_Missense_Mutation_p.N646K|ATP8B4_uc010ufd.1_Missense_Mutation_p.N583K|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxv.1_Missense_Mutation_p.N71K	1	1		benign(0.006)	p.N773K	NM_024837	NP_079113		tolerated(0.98)	1	AT8B4_HUMAN	ATP8B4	HGNC	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	H0YMB5_HUMAN		22	2461	-		all_lung(180;0.00183)	UPI0000055904	773			Cytoplasmic (Potential).		SNV	ATP8B4,missense_variant,p.Asn773Lys,ENST00000284509,NM_024837.3;ATP8B4,missense_variant,p.Asn773Lys,ENST00000559829,;ATP8B4,missense_variant,p.Asn76Lys,ENST00000560479,;ATP8B4,upstream_gene_variant,,ENST00000560161,;ATP8B4,3_prime_UTR_variant,,ENST00000559726,;ATP8B4,3_prime_UTR_variant,,ENST00000558906,;ATP8B4,3_prime_UTR_variant,,ENST00000557955,;ATP8B4,non_coding_transcript_exon_variant,,ENST00000561385,;ATP8B4,non_coding_transcript_exon_variant,,ENST00000559998,;ATP8B4,non_coding_transcript_exon_variant,,ENST00000561104,;	uc001zxu.2	c.2319T>A	2461/5677	2	2			c.2319T>A						15	SNP	c.(2317-2319)AAT>AAA	39	39			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8	Broad	ATPase class I type 8B member 4			50190419		0.398	ENSG00000104043	1170	g.chr15:50190419A>T	ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity							93.19446	KEEP	13	20	-1	14	26	13	20	-1	93.465216	14	26	0.430769	1	0	0	0	0	1	0	0	0	--	--		0	T			ATP8B4_uc010ber.2_Missense_Mutation_p.N646K|ATP8B4_uc010ufd.1_Missense_Mutation_p.N583K|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxv.1_Missense_Mutation_p.N71K	182	GBM-26-5133-TP	p.N773K	A	CTAGGAGATCATTCTTGACAT	NM_024837	NP_079113	50190419	Q8TF62	AT8B4_HUMAN	0		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	22	2461	-	T	T		all_lung(180;0.00183)	Missense_Mutation	773			Cytoplasmic (Potential).			
ATP8B4	79895		GRCh37	15	50226281	50226281	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000284509.6:c.1386C>A	p.Pro462=	p.P462=	ENST00000284509	NM_024837.3	462	ccC/ccA	0																																																																																																																																																																																																																																												
ATP9A	0	broad.mit.edu	GRCh37	20	50225158	50225158	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-12-1597-01	TCGA-12-1597-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338821.5:c.2644A>G	p.Thr882Ala	p.T882A	ENST00000338821	NM_006045.1	882	Aca/Gca	0			1			C	T/A	uc002xwg.1	protein_coding	YES	CCDS33489.1			2644/3144									ovary(4)	4	c.(2644-2646)ACA>GCA			Superfamily_domains:0049473,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF49,TIGRFAM_domain:TIGR01652,Transmembrane_helices:TMhelix	ATPase, class II, type 9A				ENSP00000342481		25/28									COSM3405201	25/28	.		ENST00000338821	Transcript			ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	ENSG00000054793	g.chr20:50225158T>C	13540			MODERATE		2.695	medium	getma.org/?cm=msa&ty=f&p=ATP9A_HUMAN&rb=798&re=932&var=T882A	NA	getma.org/?cm=var&var=hg19,20,50225158,T,C&fts=all	T882A	--	--	1																																		ATP9A_uc010gih.1_Missense_Mutation_p.T746A|ATP9A_uc002xwf.1_Missense_Mutation_p.T54A	1	1		possibly_damaging(0.78)	p.T882A	NM_006045	NP_006036		deleterious(0)	1	ATP9A_HUMAN	ATP9A	HGNC	O75110	ATP9A_HUMAN			Q2NLD0_HUMAN,B4DR18_HUMAN		25	2644	-			UPI000004D334	882			Helical; (Potential).		SNV	ATP9A,missense_variant,p.Thr882Ala,ENST00000338821,NM_006045.1;ATP9A,missense_variant,p.Thr746Ala,ENST00000311637,;ATP9A,missense_variant,p.Thr761Ala,ENST00000402822,;	uc002xwg.1	c.2644A>G	2909/8106	3	3			c.2644A>G						20	SNP	c.(2644-2646)ACA>GCA	54	54			ovary(4)	4	Broad	ATPase, class II, type 9A			50225158		0.488	ENSG00000054793	1171	g.chr20:50225158T>C	ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity							6.37189	KEEP	3	5	-1	31	20	3	5	-1	13.464419	31	20	0.142857	1	0	0	0	0	1	0	0	0	--	--		0	C			ATP9A_uc010gih.1_Missense_Mutation_p.T746A|ATP9A_uc002xwf.1_Missense_Mutation_p.T54A	124	GBM-12-1597-TP	p.T882A	T	GTGTAAATTGTGGAGTACCTG	NM_006045	NP_006036	50225158	O75110	ATP9A_HUMAN	0			25	2644	-	C	C			Missense_Mutation	882			Helical; (Potential).			
ATP9A	0	broad.mit.edu	GRCh37	20	50313988	50313988	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-5960-01	TCGA-19-5960-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338821.5:c.470T>C	p.Val157Ala	p.V157A	ENST00000338821	NM_006045.1	157	gTt/gCt	0			1			G	V/A	uc002xwg.1	protein_coding	YES	CCDS33489.1			470/3144									ovary(4)	4	c.(469-471)GTT>GCT			Superfamily_domains:0049471,Gene3D:2.70.150.10,Pfam_domain:PF00122,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF49,TIGRFAM_domain:TIGR01652	ATPase, class II, type 9A				ENSP00000342481		28-May									COSM3405202	28-May	.		ENST00000338821	Transcript			ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	ENSG00000054793	g.chr20:50313988A>G	13540			MODERATE		3.07	medium	getma.org/?cm=msa&ty=f&p=ATP9A_HUMAN&rb=108&re=368&var=V157A	NA	getma.org/?cm=var&var=hg19,20,50313988,A,G&fts=all	V157A	--	--	1																																		ATP9A_uc010gih.1_Intron|ATP9A_uc002xwf.1_5'UTR	1	1		probably_damaging(0.991)	p.V157A	NM_006045	NP_006036		deleterious(0.02)	1	ATP9A_HUMAN	ATP9A	HGNC	O75110	ATP9A_HUMAN			Q2NLD0_HUMAN,B4DR18_HUMAN		5	470	-			UPI000004D334	157			Cytoplasmic (Potential).		SNV	ATP9A,missense_variant,p.Val157Ala,ENST00000338821,NM_006045.1;ATP9A,intron_variant,,ENST00000311637,;ATP9A,intron_variant,,ENST00000402822,;	uc002xwg.1	c.470T>C	735/8106	3	3			c.470T>C						20	SNP	c.(469-471)GTT>GCT	4	4			ovary(4)	4	Broad	ATPase, class II, type 9A			50313988		0.418	ENSG00000054793	1171	g.chr20:50313988A>G	ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity							-38.063769	KEEP	2	5	-1	81	144	2	5	-1	11.647151	81	144	0.025126	1	0	0	0	0	1	0	0	0	--	--		0	G			ATP9A_uc010gih.1_Intron|ATP9A_uc002xwf.1_5'UTR	178	GBM-19-5960-TP	p.V157A	A	AAGGTCTCCAACTTGGATGTT	NM_006045	NP_006036	50313988	O75110	ATP9A_HUMAN	0			5	470	-	G	G			Missense_Mutation	157			Cytoplasmic (Potential).			
ATP9B	374868		GRCh37	18	77133909	77133909	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000426216.2:c.3082A>T	p.Met1028Leu	p.M1028L	ENST00000426216	NM_198531.3	1028	Atg/Ttg	0																																																																																																																																																																																																																																												
ATP9B	374868		GRCh37	18	77037059	77037059	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000426216.2:c.1274G>A	p.Arg425His	p.R425H	ENST00000426216	NM_198531.3	425	cGt/cAt	0																																																																																																																																																																																																																																												
ATR	545	broad.mit.edu	GRCh37	3	142183989	142183989	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-02-2486-01	TCGA-02-2486-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000350721.4:c.6991G>T	p.Asp2331Tyr	p.D2331Y	ENST00000350721	NM_001184.3	2331	Gac/Tac	0			1			A	D/Y	uc003eux.3	protein_coding	YES	CCDS3124.1			6991/7935									lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20	c.(6991-6993)GAC>TAC		Other_conserved_DNA_damage_response_genes	PROSITE_profiles:PS50290,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF64,Pfam_domain:PF00454,Gene3D:3.30.1010.10,SMART_domains:SM00146,Superfamily_domains:SSF56112	ataxia telangiectasia and Rad3 related protein				ENSP00000343741		41/47									COSM3408295	41/47	.		ENST00000350721	Transcript	1		cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	ENSG00000175054	g.chr3:142183989C>A	882			MODERATE		4.37	high	getma.org/?cm=msa&ty=f&p=ATR_HUMAN&rb=2321&re=2567&var=D2331Y	getma.org/pdb.php?prot=ATR_HUMAN&from=2321&to=2567&var=D2331Y	getma.org/?cm=var&var=hg19,3,142183989,C,A&fts=all	D2331Y	--	--	1																																		ATR_uc003euy.1_Missense_Mutation_p.D217Y	1	1		probably_damaging(1)	p.D2331Y	NM_001184	NP_001175		deleterious(0)	1	ATR_HUMAN	ATR	HGNC	Q13535	ATR_HUMAN					41	7113	-			UPI0000031A31	2331			PI3K/PI4K.		SNV	ATR,missense_variant,p.Asp2331Tyr,ENST00000350721,NM_001184.3;ATR,missense_variant,p.Asp2267Tyr,ENST00000383101,;ATR,missense_variant,p.Asp178Tyr,ENST00000513291,;RP11-383G6.3,downstream_gene_variant,,ENST00000460977,;	uc003eux.3	c.6991G>T	7113/8249	2	2			c.6991G>T						3	SNP	c.(6991-6993)GAC>TAC	32	32			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20	Broad	ataxia telangiectasia and Rad3 related protein	Other_conserved_DNA_damage_response_genes		142183989		0.299	ENSG00000175054	1177	g.chr3:142183989C>A	cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			936			936	24.454876	KEEP	7	9	0.5625	40	55	7	9	0.5625	35.293195	40	55	0.15625	1	0	0	0	0	1	0	0	0	--	--		0	A			ATR_uc003euy.1_Missense_Mutation_p.D217Y	8	GBM-02-2486-TP	p.D2331Y	C	TTTCTCAGGTCATCTTTTGGC	NM_001184	NP_001175	142183989	Q13535	ATR_HUMAN	0			41	7113	-	A	A			Missense_Mutation	2331			PI3K/PI4K.			
ATR	545	broad.mit.edu	GRCh37	3	142188272	142188272	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0128-01	TCGA-06-0128-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000350721.4:c.6459C>T	p.His2153=	p.H2153=	ENST00000350721	NM_001184.3	2153	caC/caT	0	A:0		1			A	H	uc003eux.3	protein_coding	YES	CCDS3124.1			6459/7935									lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20	c.(6457-6459)CAC>CAT		Other_conserved_DNA_damage_response_genes	PROSITE_profiles:PS51189,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF64,Superfamily_domains:SSF48371	ataxia telangiectasia and Rad3 related protein			A:0.0001	ENSP00000343741		38/47	8.24E-06					1.50E-05			rs374110291,COSM2149471	38/47	.		ENST00000350721	Transcript	1		cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	ENSG00000175054	g.chr3:142188272G>A	882			LOW								--	--	1																																		ATR_uc003euy.1_Silent_p.H39H	0,1	1			p.H2153H	NM_001184	NP_001175			0,1	ATR_HUMAN	ATR	HGNC	Q13535	ATR_HUMAN					38	6581	-			UPI0000031A31	2153			FAT.		SNV	ATR,synonymous_variant,p.=,ENST00000350721,NM_001184.3;ATR,synonymous_variant,p.=,ENST00000383101,;ATR,upstream_gene_variant,,ENST00000513291,;RP11-383G6.3,intron_variant,,ENST00000460977,;	uc003eux.3	c.6459C>T	6581/8249	2	2			c.6459C>T						3	SNP	c.(6457-6459)CAC>CAT	48	48			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20	Broad	ataxia telangiectasia and Rad3 related protein	Other_conserved_DNA_damage_response_genes		142188272		0.343	ENSG00000175054	1177	g.chr3:142188272G>A	cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			936			936	97.141237	KEEP	20	25	-1	85	82	20	25	-1	112.704063	85	82	0.21	1	0	0	0	0	0	0	1	0	--	--		0	A			ATR_uc003euy.1_Silent_p.H39H	14	GBM-06-0128-TP	p.H2153H	G	AAACTTCATCGTGAGAATGAC	NM_001184	NP_001175	142188272	Q13535	ATR_HUMAN	0			38	6581	-	A	A			Silent	2153			FAT.			
ATR	0	broad.mit.edu	GRCh37	3	142234329	142234329	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-12-0821-01	TCGA-12-0821-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000350721.4:c.4411T>C	p.Trp1471Arg	p.W1471R	ENST00000350721	NM_001184.3	1471	Tgg/Cgg	0			1			G	W/R	uc003eux.3	protein_coding	YES	CCDS3124.1			4411/7935									lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20	c.(4411-4413)TGG>CGG		Other_conserved_DNA_damage_response_genes	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF64,Superfamily_domains:SSF48371	ataxia telangiectasia and Rad3 related protein				ENSP00000343741		25/47									COSM3408296	25/47	.		ENST00000350721	Transcript	1		cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	ENSG00000175054	g.chr3:142234329A>G	882			MODERATE		2.19	medium	getma.org/?cm=msa&ty=f&p=ATR_HUMAN&rb=1426&re=1625&var=W1471R	NA	getma.org/?cm=var&var=hg19,3,142234329,A,G&fts=all	W1471R	--	--	1																																			1	1		probably_damaging(0.94)	p.W1471R	NM_001184	NP_001175		deleterious(0.05)	1	ATR_HUMAN	ATR	HGNC	Q13535	ATR_HUMAN					25	4533	-			UPI0000031A31	1471					SNV	ATR,missense_variant,p.Trp1471Arg,ENST00000350721,NM_001184.3;ATR,missense_variant,p.Trp1407Arg,ENST00000383101,;	uc003eux.3	c.4411T>C	4533/8249	3	3			c.4411T>C						3	SNP	c.(4411-4413)TGG>CGG	6	6			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20	Broad	ataxia telangiectasia and Rad3 related protein	Other_conserved_DNA_damage_response_genes		142234329		0.318	ENSG00000175054	1177	g.chr3:142234329A>G	cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			936			936	187.732712	KEEP	37	23	-1	50	21	37	23	-1	187.819759	50	21	0.471545	1	0	0	0	0	1	0	0	0	--	--		0	G				123	GBM-12-0821-TP	p.W1471R	A	ACTCCAGACCAATCGGTTGAC	NM_001184	NP_001175	142234329	Q13535	ATR_HUMAN	0			25	4533	-	G	G			Missense_Mutation	1471						
ATR	0	broad.mit.edu	GRCh37	3	142281611	142281611	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-3653-01	TCGA-12-3653-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000350721.4:c.633G>A	p.Met211Ile	p.M211I	ENST00000350721	NM_001184.3	211	atG/atA	0			1			T	M/I	uc003eux.3	protein_coding	YES	CCDS3124.1			633/7935									lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20	c.(631-633)ATG>ATA		Other_conserved_DNA_damage_response_genes	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF64	ataxia telangiectasia and Rad3 related protein				ENSP00000343741		Apr-47									COSM3408297	Apr-47	.		ENST00000350721	Transcript	1		cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	ENSG00000175054	g.chr3:142281611C>T	882			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=ATR_HUMAN&rb=201&re=400&var=M211I	NA	getma.org/?cm=var&var=hg19,3,142281611,C,T&fts=all	M211I	--	--	1																																			1	1		benign(0)	p.M211I	NM_001184	NP_001175		tolerated_low_confidence(0.19)	1	ATR_HUMAN	ATR	HGNC	Q13535	ATR_HUMAN					4	755	-			UPI0000031A31	211					SNV	ATR,missense_variant,p.Met211Ile,ENST00000350721,NM_001184.3;ATR,missense_variant,p.Met211Ile,ENST00000383101,;ATR,upstream_gene_variant,,ENST00000515149,;ATR,intron_variant,,ENST00000507148,;ATR,upstream_gene_variant,,ENST00000515863,;	uc003eux.3	c.633G>A	755/8249	2	2			c.633G>A						3	SNP	c.(631-633)ATG>ATA	20	20			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20	Broad	ataxia telangiectasia and Rad3 related protein	Other_conserved_DNA_damage_response_genes		142281611		0.318	ENSG00000175054	1177	g.chr3:142281611C>T	cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			936			936	-5.663332	KEEP	2	2	-1	24	46	2	2	-1	9.577118	24	46	0.054795	1	0	0	0	0	1	0	0	0	--	--		0	T				128	GBM-12-3653-TP	p.M211I	C	GAGTAAGAACCATTAATAAAG	NM_001184	NP_001175	142281611	Q13535	ATR_HUMAN	0			4	755	-	T	T			Missense_Mutation	211						
ATRNL1	26033	broad.mit.edu	GRCh37	10	117607492	117607492	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-06-0649-01	TCGA-06-0649-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355044.3:c.4008T>G	p.Pro1336=	p.P1336=	ENST00000355044	NM_207303.2	1336	ccT/ccG	0			1			G	P	uc001lcg.2	protein_coding	YES	CCDS7592.1			4008/4140									ovary(5)|lung(1)|central_nervous_system(1)	7	c.(4006-4008)CCT>CCG			hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF224,Low_complexity_(Seg):seg	attractin-like 1 precursor				ENSP00000347152		28/29									COSM2151486	28/29	.		ENST00000355044	Transcript				integral to membrane	sugar binding	ENSG00000107518	g.chr10:117607492T>G	29063			LOW								--	--	1																																		ATRNL1_uc010qsm.1_Silent_p.P465P|ATRNL1_uc010qsn.1_RNA	1	1			p.P1336P	NM_207303	NP_997186			1	ATRN1_HUMAN	ATRNL1	HGNC	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)			28	4394	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	UPI000021CCF8	1336			Cytoplasmic (Potential).		SNV	ATRNL1,synonymous_variant,p.=,ENST00000355044,NM_207303.2;ATRNL1,synonymous_variant,p.=,ENST00000423111,;ATRNL1,synonymous_variant,p.=,ENST00000303745,;	uc001lcg.2	c.4008T>G	4134/8479	4	4			c.4008T>G						10	SNP	c.(4006-4008)CCT>CCG	17	17			ovary(5)|lung(1)|central_nervous_system(1)	7	Broad	attractin-like 1 precursor			117607492		0.468	ENSG00000107518	1180	g.chr10:117607492T>G		integral to membrane	sugar binding							34.327969	KEEP	4	7	-1	11	11	4	7	-1	35.012029	11	11	0.34375	1	0	0	0	0	0	0	1	0	--	--		0	G			ATRNL1_uc010qsm.1_Silent_p.P465P|ATRNL1_uc010qsn.1_RNA	62	GBM-06-0649-TP	p.P1336P	T	CCCCTCCCCCTGGGCAGTCAG	NM_207303	NP_997186	117607492	Q5VV63	ATRN1_HUMAN	0		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	28	4394	+	G	G		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	Silent	1336			Cytoplasmic (Potential).			
ATRNL1	26033		GRCh37	10	117061383	117061383	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000355044.3:c.2648C>T	p.Ala883Val	p.A883V	ENST00000355044	NM_207303.2	883	gCg/gTg	0																																																																																																																																																																																																																																												
ATRX	546		GRCh37	X	76918879	76918879	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000373344.5:c.4112G>C	p.Arg1371Thr	p.R1371T	ENST00000373344	NM_000489.3	1371	aGa/aCa	0																																																																																																																																																																																																																																												
ATXN1	6310	broad.mit.edu	GRCh37	6	16306892	16306892	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01	TCGA-06-0185-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000244769.4:c.2116G>A	p.Val706Ile	p.V706I	ENST00000244769	NM_000332.3	706	Gtc/Atc	0		T:0	1	T:0.0014		T	V/I	uc003nbt.2	protein_coding	YES	CCDS34342.1			2116/2448									skin(3)|central_nervous_system(1)	4	c.(2116-2118)GTC>ATC			hmmpanther:PTHR13392:SF5,hmmpanther:PTHR13392	ataxin 1		T:0		ENSP00000244769	T:0	9-Sep	2.47E-05		0.000259						rs199795863,COSM2150551	9-Sep	.		ENST00000244769	Transcript	1	T:0.0002	cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	ENSG00000124788	g.chr6:16306892C>T	10548			MODERATE		-0.69	neutral	getma.org/?cm=msa&ty=f&p=ATX1_HUMAN&rb=689&re=815&var=V706I	NA	getma.org/?cm=var&var=hg19,6,16306892,C,T&fts=all	V706I	--	--	1																																		ATXN1_uc010jpi.2_Missense_Mutation_p.V706I|ATXN1_uc010jpj.1_RNA	0,1	1		benign(0.002)	p.V706I	NM_000332	NP_000323	T:0	tolerated(0.65)	0,1	ATX1_HUMAN	ATXN1	HGNC	P54253	ATX1_HUMAN					9	3087	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	UPI000013CB8B	706			Interaction with USP7.|RNA-binding.		SNV	ATXN1,missense_variant,p.Val706Ile,ENST00000244769,NM_000332.3;ATXN1,missense_variant,p.Val706Ile,ENST00000436367,NM_001128164.1;	uc003nbt.2	c.2116G>A	3053/10602	2	2			c.2116G>A						6	SNP	c.(2116-2118)GTC>ATC	26	26			skin(3)|central_nervous_system(1)	4	Broad	ataxin 1			16306892		0.582	ENSG00000124788	1181	g.chr6:16306892C>T	cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association							108.3398	KEEP	33	14	-1	44	35	33	14	-1	110.426391	44	35	0.356522	1	0	0	0	0	1	0	0	0	--	--		0	T			ATXN1_uc010jpi.2_Missense_Mutation_p.V706I|ATXN1_uc010jpj.1_RNA	40	GBM-06-0185-TP	p.V706I	C	TTCAGCAGGACGCTGGCGGGA	NM_000332	NP_000323	16306892	P54253	ATX1_HUMAN	0			9	3087	-	T	T	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	Missense_Mutation	706			Interaction with USP7.|RNA-binding.			
ATXN1	6310		GRCh37	6	16327903	16327903	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000244769.4:c.639G>T	p.Gln213His	p.Q213H	ENST00000244769	NM_000332.3	213	caG/caT	0																																																																																																																																																																																																																																												
ATXN2	0	broad.mit.edu	GRCh37	12	111895056	111895056	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2624-01	TCGA-19-2624-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377617.3:c.3478C>T	p.Gln1160Ter	p.Q1160*	ENST00000377617	NM_002973.3	1160	Caa/Taa	0			1			A	Q/*	uc001tsj.2	protein_coding	YES	CCDS31902.1			3478/3942									ovary(1)|breast(1)	2	c.(3478-3480)CAA>TAA			Low_complexity_(Seg):seg,hmmpanther:PTHR12854,hmmpanther:PTHR12854:SF11	ataxin 2				ENSP00000366843		22/25									COSM2156236	22/25	.		ENST00000377617	Transcript	1		cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	ENSG00000204842	g.chr12:111895056G>A	10555			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,12,111895056,G,A&fts=all	Q1160*	--	--	1																																		ATXN2_uc001tsh.2_Nonsense_Mutation_p.Q895*|ATXN2_uc001tsi.2_Nonsense_Mutation_p.Q853*|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Nonsense_Mutation_p.Q348*|ATXN2_uc001tsl.1_Nonsense_Mutation_p.Q161*	1	1			p.Q1160*	NM_002973	NP_002964			1	ATX2_HUMAN	ATXN2	HGNC	Q99700	ATX2_HUMAN			D2CTA6_HUMAN,D2CTA5_HUMAN,D2CTA3_HUMAN		22	3640	-			UPI0000DBEEFC	1160					SNV	ATXN2,stop_gained,p.Gln1160Ter,ENST00000377617,NM_002973.3;ATXN2,stop_gained,p.Gln1000Ter,ENST00000608853,;ATXN2,stop_gained,p.Gln897Ter,ENST00000389153,;ATXN2,stop_gained,p.Gln895Ter,ENST00000542287,;ATXN2,stop_gained,p.Gln853Ter,ENST00000535949,;ATXN2,stop_gained,p.Gln100Ter,ENST00000550844,;ATXN2,stop_gained,p.Gln301Ter,ENST00000389154,;ATXN2,3_prime_UTR_variant,,ENST00000550104,;ATXN2,upstream_gene_variant,,ENST00000475132,;ATXN2,3_prime_UTR_variant,,ENST00000483311,;ATXN2,non_coding_transcript_exon_variant,,ENST00000482777,;ATXN2,non_coding_transcript_exon_variant,,ENST00000550889,;ATXN2,non_coding_transcript_exon_variant,,ENST00000551551,;ATXN2,non_coding_transcript_exon_variant,,ENST00000468920,;ATXN2,upstream_gene_variant,,ENST00000484991,;	uc001tsj.2	c.3478C>T	3640/4702	5	2			c.3478C>T						12	SNP	c.(3478-3480)CAA>TAA	46	46			ovary(1)|breast(1)	2	Broad	ataxin 2			111895056		0.552	ENSG00000204842	1183	g.chr12:111895056G>A	cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding							101.095119	KEEP	19	15	-1	18	17	19	15	-1	101.095119	18	17	0.5	1	0	0	0	0	0	1	0	0	--	--		0	A			ATXN2_uc001tsh.2_Nonsense_Mutation_p.Q895*|ATXN2_uc001tsi.2_Nonsense_Mutation_p.Q853*|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Nonsense_Mutation_p.Q348*|ATXN2_uc001tsl.1_Nonsense_Mutation_p.Q161*	164	GBM-19-2624-TP	p.Q1160*	G	CCACCATGTTGGCTTTGCTGC	NM_002973	NP_002964	111895056	Q99700	ATX2_HUMAN	0			22	3640	-	A	A			Nonsense_Mutation	1160						
ATXN2L	0	broad.mit.edu	GRCh37	16	28846701	28846701	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-5299-01	TCGA-12-5299-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336783.4:c.2666C>T	p.Ala889Val	p.A889V	ENST00000336783	NM_007245.3	889	gCg/gTg	0			1			T	A/V	uc002drc.2	protein_coding		CCDS10641.1			2666/3228									upper_aerodigestive_tract(1)|ovary(1)	2	c.(2665-2667)GCG>GTG			hmmpanther:PTHR12854,hmmpanther:PTHR12854:SF8	ataxin 2 related protein isoform A				ENSP00000338718		20/22	1.65E-05					3.02E-05			rs763582122,COSM3402242,COSM3402243,COSM3402244,COSM3402241	20/22	.		ENST00000336783	Transcript				membrane		ENSG00000168488	g.chr16:28846701C>T	31326			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=ATX2L_HUMAN&rb=871&re=1070&var=A889V	NA	getma.org/?cm=var&var=hg19,16,28846701,C,T&fts=all	A889V	--	--	1																																		uc010vct.1_Intron|ATXN2L_uc002drb.2_Missense_Mutation_p.A889V|ATXN2L_uc002dqy.2_Missense_Mutation_p.A889V|ATXN2L_uc002dra.2_Missense_Mutation_p.A889V|ATXN2L_uc002dqz.2_Missense_Mutation_p.A889V|ATXN2L_uc010vdb.1_Missense_Mutation_p.A895V|ATXN2L_uc002dre.2_Missense_Mutation_p.A889V|ATXN2L_uc002drf.2_Missense_Mutation_p.A298V|ATXN2L_uc002drg.2_Missense_Mutation_p.A171V	0,1,1,1,1			possibly_damaging(0.468)	p.A889V	NM_007245	NP_009176		deleterious(0.03)	0,1,1,1,1	ATX2L_HUMAN	ATXN2L	HGNC	Q8WWM7	ATX2L_HUMAN			H3BSQ5_HUMAN,H3BRB0_HUMAN		20	2834	+			UPI0000160B8E	889					SNV	ATXN2L,missense_variant,p.Ala889Val,ENST00000336783,NM_007245.3;ATXN2L,missense_variant,p.Ala889Val,ENST00000395547,NM_148414.2;ATXN2L,missense_variant,p.Ala889Val,ENST00000340394,NM_148416.2,NM_148415.2;ATXN2L,missense_variant,p.Ala889Val,ENST00000325215,NM_017492.3,NM_145714.2;ATXN2L,missense_variant,p.Ala889Val,ENST00000382686,;ATXN2L,missense_variant,p.Ala889Val,ENST00000570200,;ATXN2L,missense_variant,p.Ala895Val,ENST00000564304,;ATXN2L,missense_variant,p.Ala214Val,ENST00000566946,;ATXN2L,missense_variant,p.Ala65Val,ENST00000569318,;ATXN2L,downstream_gene_variant,,ENST00000568266,;ATXN2L,upstream_gene_variant,,ENST00000564162,;ATXN2L,upstream_gene_variant,,ENST00000567024,;ATXN2L,upstream_gene_variant,,ENST00000566007,;RP11-24N18.1,intron_variant,,ENST00000563565,;ATXN2L,downstream_gene_variant,,ENST00000565845,;ATXN2L,downstream_gene_variant,,ENST00000570284,;ATXN2L,missense_variant,p.Ala215Val,ENST00000562583,;ATXN2L,3_prime_UTR_variant,,ENST00000565971,;ATXN2L,non_coding_transcript_exon_variant,,ENST00000563314,;ATXN2L,non_coding_transcript_exon_variant,,ENST00000561732,;ATXN2L,non_coding_transcript_exon_variant,,ENST00000562686,;ATXN2L,downstream_gene_variant,,ENST00000564035,;ATXN2L,downstream_gene_variant,,ENST00000564284,;	uc002drc.2	c.2666C>T	2833/4367	2	2			c.2666C>T						16	SNP	c.(2665-2667)GCG>GTG	25	25			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	ataxin 2 related protein isoform A			28846701		0.632	ENSG00000168488	1184	g.chr16:28846701C>T		membrane								-6.735829	KEEP	1	5	-1	48	58	1	5	-1	7.113099	48	58	0.058824	1	0	0	0	0	1	0	0	0	--	--		0	T			uc010vct.1_Intron|ATXN2L_uc002drb.2_Missense_Mutation_p.A889V|ATXN2L_uc002dqy.2_Missense_Mutation_p.A889V|ATXN2L_uc002dra.2_Missense_Mutation_p.A889V|ATXN2L_uc002dqz.2_Missense_Mutation_p.A889V|ATXN2L_uc010vdb.1_Missense_Mutation_p.A895V|ATXN2L_uc002dre.2_Missense_Mutation_p.A889V|ATXN2L_uc002drf.2_Missense_Mutation_p.A298V|ATXN2L_uc002drg.2_Missense_Mutation_p.A171V	130	GBM-12-5299-TP	p.A889V	C	TCCCAGCATGCGGCCCCCAGT	NM_007245	NP_009176	28846701	Q8WWM7	ATX2L_HUMAN	0			20	2834	+	T	T			Missense_Mutation	889						
ATXN2L	0	broad.mit.edu	GRCh37	16	28847275	28847275	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-26-6173-01	TCGA-26-6173-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336783.4:c.2917A>T	p.Thr973Ser	p.T973S	ENST00000336783	NM_007245.3	973	Aca/Tca	0			1			T	T/S	uc002drc.2	protein_coding		CCDS10641.1			2917/3228									upper_aerodigestive_tract(1)|ovary(1)	2	c.(2917-2919)ACA>TCA			hmmpanther:PTHR12854,hmmpanther:PTHR12854:SF8	ataxin 2 related protein isoform A				ENSP00000338718		22/22									COSM3402246,COSM3402247,COSM3402248,COSM3402245	22/22	.		ENST00000336783	Transcript				membrane		ENSG00000168488	g.chr16:28847275A>T	31326			MODERATE		-0.145	neutral	getma.org/?cm=msa&ty=f&p=ATX2L_HUMAN&rb=871&re=1070&var=T973S	NA	getma.org/?cm=var&var=hg19,16,28847275,A,T&fts=all	T973S	--	--	1																																		uc010vct.1_Intron|ATXN2L_uc002drb.2_Missense_Mutation_p.T973S|ATXN2L_uc002dqy.2_Missense_Mutation_p.T973S|ATXN2L_uc002dra.2_Missense_Mutation_p.T973S|ATXN2L_uc002dqz.2_Missense_Mutation_p.T973S|ATXN2L_uc010vdb.1_Missense_Mutation_p.T979S|ATXN2L_uc002dre.2_Missense_Mutation_p.T973S|ATXN2L_uc002drf.2_Missense_Mutation_p.T382S|ATXN2L_uc002drg.2_Missense_Mutation_p.T256S	1,1,1,1			benign(0.138)	p.T973S	NM_007245	NP_009176		tolerated(0.76)	1,1,1,1	ATX2L_HUMAN	ATXN2L	HGNC	Q8WWM7	ATX2L_HUMAN			H3BSQ5_HUMAN,H3BRB0_HUMAN		22	3085	+			UPI0000160B8E	973					SNV	ATXN2L,missense_variant,p.Thr973Ser,ENST00000336783,NM_007245.3;ATXN2L,missense_variant,p.Thr973Ser,ENST00000395547,NM_148414.2;ATXN2L,missense_variant,p.Thr973Ser,ENST00000340394,NM_148416.2,NM_148415.2;ATXN2L,missense_variant,p.Thr973Ser,ENST00000325215,NM_017492.3,NM_145714.2;ATXN2L,missense_variant,p.Thr973Ser,ENST00000382686,;ATXN2L,missense_variant,p.Thr973Ser,ENST00000570200,;ATXN2L,missense_variant,p.Thr979Ser,ENST00000564304,;ATXN2L,missense_variant,p.Thr299Ser,ENST00000566946,;ATXN2L,missense_variant,p.Thr38Ser,ENST00000564162,;ATXN2L,missense_variant,p.Thr147Ser,ENST00000569318,;ATXN2L,missense_variant,p.Thr63Ser,ENST00000566007,;ATXN2L,upstream_gene_variant,,ENST00000567024,;RP11-24N18.1,intron_variant,,ENST00000563565,;ATXN2L,downstream_gene_variant,,ENST00000565845,;ATXN2L,downstream_gene_variant,,ENST00000570284,;ATXN2L,missense_variant,p.Thr299Ser,ENST00000562583,;ATXN2L,3_prime_UTR_variant,,ENST00000565971,;ATXN2L,non_coding_transcript_exon_variant,,ENST00000563314,;ATXN2L,downstream_gene_variant,,ENST00000564035,;ATXN2L,downstream_gene_variant,,ENST00000561732,;ATXN2L,downstream_gene_variant,,ENST00000562686,;	uc002drc.2	c.2917A>T	3084/4367	2	2			c.2917A>T						16	SNP	c.(2917-2919)ACA>TCA	33	33			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	ataxin 2 related protein isoform A			28847275		0.622	ENSG00000168488	1184	g.chr16:28847275A>T		membrane								45.140609	KEEP	12	12	-1	51	57	12	12	-1	55.172165	51	57	0.185185	1	0	0	0	0	1	0	0	0	--	--		0	T			uc010vct.1_Intron|ATXN2L_uc002drb.2_Missense_Mutation_p.T973S|ATXN2L_uc002dqy.2_Missense_Mutation_p.T973S|ATXN2L_uc002dra.2_Missense_Mutation_p.T973S|ATXN2L_uc002dqz.2_Missense_Mutation_p.T973S|ATXN2L_uc010vdb.1_Missense_Mutation_p.T979S|ATXN2L_uc002dre.2_Missense_Mutation_p.T973S|ATXN2L_uc002drf.2_Missense_Mutation_p.T382S|ATXN2L_uc002drg.2_Missense_Mutation_p.T256S	187	GBM-26-6173-TP	p.T973S	A	AACTGGAATCACAGCAGCCCC	NM_007245	NP_009176	28847275	Q8WWM7	ATX2L_HUMAN	0			22	3085	+	T	T			Missense_Mutation	973						
ATXN7	0	broad.mit.edu	GRCh37	3	63898472	63898472	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-26-5133-01	TCGA-26-5133-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295900.6:c.198C>T	p.Gly66=	p.G66=	ENST00000295900	NM_000333.3	66	ggC/ggT	0			1			T	G	uc003dlw.3	protein_coding		CCDS43102.1			198/2679										0	c.(196-198)GGC>GGT			hmmpanther:PTHR15117,hmmpanther:PTHR15117:SF2	ataxin 7 isoform a				ENSP00000295900		13-Mar	8.35E-06	0.000176							rs749124142,COSM3408858,COSM3408857	13-Mar	.		ENST00000295900	Transcript	1		cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	ENSG00000163635	g.chr3:63898472C>T	10560			LOW								--	--	1																																		ATXN7_uc003dlv.2_Silent_p.G66G|ATXN7_uc010hnv.2_Silent_p.G66G|ATXN7_uc010hnu.1_RNA	0,1,1				p.G66G	NM_000333	NP_000324			0,1,1	ATX7_HUMAN	ATXN7	HGNC	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	Q9UPD8_HUMAN		3	751	+		Prostate(884;0.0181)	UPI0000126640	66					SNV	ATXN7,synonymous_variant,p.=,ENST00000398590,NM_001177387.1;ATXN7,synonymous_variant,p.=,ENST00000295900,NM_000333.3;ATXN7,synonymous_variant,p.=,ENST00000538065,;ATXN7,synonymous_variant,p.=,ENST00000487717,;ATXN7,downstream_gene_variant,,ENST00000474513,;ATXN7,non_coding_transcript_exon_variant,,ENST00000474112,;	uc003dlw.3	c.198C>T	748/7224	2	2			c.198C>T						3	SNP	c.(196-198)GGC>GGT	35	35				0	Broad	ataxin 7 isoform a			63898472		0.308	ENSG00000163635	1187	g.chr3:63898472C>T	cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding							37.542949	KEEP	12	11	-1	6	13	12	11	-1	37.542949	6	13	0.5	1	0	0	0	0	0	0	1	0	--	--		0	T			ATXN7_uc003dlv.2_Silent_p.G66G|ATXN7_uc010hnv.2_Silent_p.G66G|ATXN7_uc010hnu.1_RNA	182	GBM-26-5133-TP	p.G66G	C	gcgggcccggcgccgccTCCA	NM_000333	NP_000324	63898472	O15265	ATX7_HUMAN	0		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	3	751	+	T	T		Prostate(884;0.0181)	Silent	66						
ATXN7	0	broad.mit.edu	GRCh37	3	63981678	63981678	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-27-2527-01	TCGA-27-2527-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295900.6:c.2180delC	p.Ser727PhefsTer24	p.S727Ffs*24	ENST00000295900	NM_000333.3	727	tCt/tt	0			1			-	S/X	uc003dlw.3	protein_coding		CCDS43102.1			2180/2679										0	c.(2179-2181)TCTfs			hmmpanther:PTHR15117,hmmpanther:PTHR15117:SF2,Low_complexity_(Seg):seg	ataxin 7 isoform a				ENSP00000295900		13-Dec									COSM2157307,COSM2157306	13-Dec	.		ENST00000295900	Transcript	1		cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	ENSG00000163635	g.chr3:63981678delC	10560			HIGH								--	--	1																																		ATXN7_uc003dlv.2_Frame_Shift_Del_p.S727fs|ATXN7_uc010hnv.2_Frame_Shift_Del_p.S727fs|ATXN7_uc011bfn.1_Frame_Shift_Del_p.S582fs	1,1				p.S727fs	NM_000333	NP_000324			1,1	ATX7_HUMAN	ATXN7	HGNC	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	Q9UPD8_HUMAN		12	2733	+		Prostate(884;0.0181)	UPI0000126640	727			Poly-Ser.|Ser-rich.		deletion	ATXN7,frameshift_variant,p.Ser727PhefsTer24,ENST00000398590,NM_001177387.1;ATXN7,frameshift_variant,p.Ser727PhefsTer24,ENST00000295900,NM_000333.3;ATXN7,frameshift_variant,p.Ser727PhefsTer24,ENST00000538065,;ATXN7,frameshift_variant,p.Ser727PhefsTer24,ENST00000487717,;ATXN7,frameshift_variant,p.Ser582PhefsTer24,ENST00000484332,NM_001128149.2;ATXN7,upstream_gene_variant,,ENST00000522345,;ATXN7,non_coding_transcript_exon_variant,,ENST00000474112,;ATXN7,downstream_gene_variant,,ENST00000477516,;	uc003dlw.3	c.2180delC	2730/7224	5	5			c.2180delC						3	DEL	c.(2179-2181)TCTfs	61	61				0	Broad	ataxin 7 isoform a			63981678		0.413	ENSG00000163635	1187	g.chr3:63981678delC	cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding																				0.25	1	1	0	1	0	0	0	0	0	--	--		0	-			ATXN7_uc003dlv.2_Frame_Shift_Del_p.S727fs|ATXN7_uc010hnv.2_Frame_Shift_Del_p.S727fs|ATXN7_uc011bfn.1_Frame_Shift_Del_p.S582fs	204	GBM-27-2527-TP	p.S727fs	C	tcctcctcttcttcTCATTCC	NM_000333	NP_000324	63981678	O15265	ATX7_HUMAN	0		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	12	2733	+	-	-		Prostate(884;0.0181)	Frame_Shift_Del	727			Poly-Ser.|Ser-rich.			
AUP1	0	broad.mit.edu	GRCh37	2	74756731	74756731	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377526.3:c.26C>T	p.Pro9Leu	p.P9L	ENST00000377526	NM_181575.3	9	cCg/cTg	0			1			A	P/L	uc010yry.1	protein_coding	YES	CCDS42702.1			26/1233										0	c.(25-27)CCG>CTG			hmmpanther:PTHR15486	SubName: Full=cDNA FLJ58836, highly similar to Ancient ubiquitous protein 1;				ENSP00000366748		12-Jan									COSM3407989	12-Jan	.		ENST00000377526	Transcript				endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding	ENSG00000115307	g.chr2:74756731G>A	891			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=AUP1_HUMAN&rb=1&re=200&var=P9L	NA	getma.org/?cm=var&var=hg19,2,74756731,G,A&fts=all	P9L	--	--	1																																		AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_Missense_Mutation_p.P9L|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_5'UTR|AUP1_uc010yrx.1_Missense_Mutation_p.R40W|HTRA2_uc002smi.1_5'UTR|HTRA2_uc002smj.1_5'UTR|HTRA2_uc002smk.1_5'UTR|HTRA2_uc002sml.1_5'UTR|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank|HTRA2_uc010ffl.2_5'Flank	1	1		benign(0.049)	p.P9L				tolerated(0.43)	1	AUP1_HUMAN	AUP1	HGNC	Q9Y679	AUP1_HUMAN					1	244	-			UPI000000163A	9			Lumenal (Potential).		SNV	AUP1,missense_variant,p.Pro9Leu,ENST00000377526,NM_181575.3;HTRA2,5_prime_UTR_variant,,ENST00000258080,NM_013247.4;LOXL3,downstream_gene_variant,,ENST00000264094,NM_032603.2;LOXL3,downstream_gene_variant,,ENST00000409549,;DQX1,upstream_gene_variant,,ENST00000404568,NM_133637.2;DQX1,upstream_gene_variant,,ENST00000393951,;LOXL3,downstream_gene_variant,,ENST00000409249,;LOXL3,downstream_gene_variant,,ENST00000393937,;LOXL3,downstream_gene_variant,,ENST00000409986,;HTRA2,upstream_gene_variant,,ENST00000437202,;HTRA2,upstream_gene_variant,,ENST00000352222,NM_145074.2;DQX1,upstream_gene_variant,,ENST00000451518,;HTRA2,upstream_gene_variant,,ENST00000467961,;HTRA2,upstream_gene_variant,,ENST00000462909,;HTRA2,upstream_gene_variant,,ENST00000484881,;DQX1,upstream_gene_variant,,ENST00000498552,;AUP1,missense_variant,p.Pro9Leu,ENST00000425118,;AUP1,non_coding_transcript_exon_variant,,ENST00000466894,;AUP1,non_coding_transcript_exon_variant,,ENST00000463900,;AUP1,non_coding_transcript_exon_variant,,ENST00000472800,;LOXL3,downstream_gene_variant,,ENST00000470907,;DQX1,upstream_gene_variant,,ENST00000473508,;HTRA2,upstream_gene_variant,,ENST00000484352,;AUP1,upstream_gene_variant,,ENST00000486234,;HTRA2,upstream_gene_variant,,ENST00000482331,;AUP1,upstream_gene_variant,,ENST00000464887,;HTRA2,upstream_gene_variant,,ENST00000465521,;HTRA2,upstream_gene_variant,,ENST00000482205,;AUP1,upstream_gene_variant,,ENST00000462297,;	uc010yry.1	c.26C>T	336/1695	1	1			c.26C>T						2	SNP	c.(25-27)CCG>CTG	53	53				0	Broad	SubName: Full=cDNA FLJ58836, highly similar to Ancient ubiquitous protein 1;			74756731		0.711	ENSG00000115307	1191	g.chr2:74756731G>A		endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding							6.356658	KEEP	1	1	-1	1	3	1	1	-1	6.397857	1	3	0.4	1	0	0	0	0	1	0	0	0	--	--		0	A			AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_Missense_Mutation_p.P9L|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_5'UTR|AUP1_uc010yrx.1_Missense_Mutation_p.R40W|HTRA2_uc002smi.1_5'UTR|HTRA2_uc002smj.1_5'UTR|HTRA2_uc002smk.1_5'UTR|HTRA2_uc002sml.1_5'UTR|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank|HTRA2_uc010ffl.2_5'Flank	139	GBM-14-0817-TP	p.P9L	G	GAGCCGCTCCGGCCCCGGCCC			74756731	Q9Y679	AUP1_HUMAN	0			1	244	-	A	A			Missense_Mutation	9			Lumenal (Potential).			
AURKA	6790		GRCh37	20	54963223	54963223	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000312783.6:c.31G>A	p.Gly11Arg	p.G11R	ENST00000312783	NM_198436.1	11	Gga/Aga	0																																																																																																																																																																																																																																												
AURKB	0	broad.mit.edu	GRCh37	17	8108652	8108652	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01	TCGA-14-1395-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000585124.1:c.743G>A	p.Arg248His	p.R248H	ENST00000585124	NM_004217.3	248	cGc/cAc	0			1			T	R/H	uc002gkm.2	protein_coding	YES	CCDS11134.1			743/1035									lung(2)|breast(1)|central_nervous_system(1)	4	c.(742-744)CGC>CAC			PROSITE_profiles:PS50011,hmmpanther:PTHR24350:SF4,hmmpanther:PTHR24350,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	aurora kinase B				ENSP00000463999		9-Aug	1.65E-05		8.64E-05			1.50E-05			rs777705809,COSM3403398,COSM3403399	9-Aug	.		ENST00000585124	Transcript			anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	ENSG00000178999	g.chr17:8108652C>T	11390			MODERATE		0.635	neutral	getma.org/?cm=msa&ty=f&p=AURKB_HUMAN&rb=77&re=327&var=R248H	getma.org/pdb.php?prot=AURKB_HUMAN&from=77&to=327&var=R248H	getma.org/?cm=var&var=hg19,17,8108652,C,T&fts=all	R248H	--	--	1																																		AURKB_uc010cnu.2_Missense_Mutation_p.R68H|AURKB_uc002gkn.2_Missense_Mutation_p.R249H|AURKB_uc010vuu.1_Missense_Mutation_p.R207H|AURKB_uc002gko.2_RNA	0,1,1	1		benign(0.005)	p.R248H	NM_004217	NP_004208		tolerated(0.11)	0,1,1	AURKB_HUMAN	AURKB	HGNC	Q96GD4	AURKB_HUMAN			J3QR41_HUMAN,J3KTD6_HUMAN,J3KRJ2_HUMAN		8	804	-			UPI000013FD00	248			Protein kinase.		SNV	AURKB,missense_variant,p.Arg249His,ENST00000316199,NM_001284526.1;AURKB,missense_variant,p.Arg248His,ENST00000585124,NM_004217.3;AURKB,missense_variant,p.Arg207His,ENST00000534871,NM_001256834.1;AURKB,missense_variant,p.Arg216His,ENST00000578549,;AURKB,missense_variant,p.Arg208His,ENST00000577833,;AURKB,missense_variant,p.Arg180His,ENST00000584972,;AURKB,3_prime_UTR_variant,,ENST00000535053,;AURKB,downstream_gene_variant,,ENST00000582368,;AURKB,downstream_gene_variant,,ENST00000581511,;AURKB,downstream_gene_variant,,ENST00000583915,;AURKB,3_prime_UTR_variant,,ENST00000580998,;AURKB,non_coding_transcript_exon_variant,,ENST00000578753,;AURKB,downstream_gene_variant,,ENST00000584561,;AURKB,downstream_gene_variant,,ENST00000580390,;AURKB,downstream_gene_variant,,ENST00000583124,;	uc002gkm.2	c.743G>A	837/1227	2	2			c.743G>A						17	SNP	c.(742-744)CGC>CAC	24	24			lung(2)|breast(1)|central_nervous_system(1)	4	Broad	aurora kinase B			8108652		0.572	ENSG00000178999	1193	g.chr17:8108652C>T	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	NSCLC(134;1161 2470 43664 51568)		97	NSCLC(134;1161 2470 43664 51568)		97	-15.687902	KEEP	3	2	-1	60	48	3	2	-1	6.844376	60	48	0.040404	1	0	0	0	0	1	0	0	0	--	--		0	T			AURKB_uc010cnu.2_Missense_Mutation_p.R68H|AURKB_uc002gkn.2_Missense_Mutation_p.R249H|AURKB_uc010vuu.1_Missense_Mutation_p.R207H|AURKB_uc002gko.2_RNA	144	GBM-14-1395-TP	p.R248H	C	ATTGTGCATGCGCCCCTCAAT	NM_004217	NP_004208	8108652	Q96GD4	AURKB_HUMAN	0			8	804	-	T	T			Missense_Mutation	248			Protein kinase.			
AVIL	10677	broad.mit.edu	GRCh37	12	58207190	58207190	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01	TCGA-06-0174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257861.3:c.158G>A	p.Ser53Asn	p.S53N	ENST00000257861	NM_006576.3	53	aGt/aAt	0			1			T	S/N	uc001sqj.1	protein_coding	YES	CCDS8959.1			158/2460									central_nervous_system(1)	1	c.(157-159)AGT>AAT			Superfamily_domains:SSF55753,SMART_domains:SM00262,Gene3D:3.40.20.10,Pfam_domain:PF00626,hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF33	advillin				ENSP00000257861		19-Mar									COSM3747930	19-Mar	.		ENST00000257861	Transcript			actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	ENSG00000135407	g.chr12:58207190C>T	14188			MODERATE		0.115	neutral	getma.org/?cm=msa&ty=f&p=AVIL_HUMAN&rb=23&re=105&var=S53N	getma.org/pdb.php?prot=AVIL_HUMAN&from=23&to=105&var=S53N	getma.org/?cm=var&var=hg19,12,58207190,C,T&fts=all	S53N	--	--	1																																		AVIL_uc009zqe.1_Missense_Mutation_p.S46N|AVIL_uc001sql.3_Missense_Mutation_p.S30N	1	1		benign(0.019)	p.S53N	NM_006576	NP_006567		tolerated(0.51)	1	AVIL_HUMAN	AVIL	HGNC	O75366	AVIL_HUMAN			F8VVU1_HUMAN		3	187	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		UPI000013CF93	53			Gelsolin-like 1.|Core (By similarity).		SNV	AVIL,missense_variant,p.Ser46Asn,ENST00000537081,;AVIL,missense_variant,p.Ser53Asn,ENST00000257861,NM_006576.3;AVIL,missense_variant,p.Ser53Asn,ENST00000549994,;RP11-571M6.18,upstream_gene_variant,,ENST00000602327,;AVIL,3_prime_UTR_variant,,ENST00000549851,;AVIL,non_coding_transcript_exon_variant,,ENST00000548843,;AVIL,upstream_gene_variant,,ENST00000549548,;AVIL,upstream_gene_variant,,ENST00000550537,;	uc001sqj.1	c.158G>A	589/2891	1	1			c.158G>A						12	SNP	c.(157-159)AGT>AAT	16	16			central_nervous_system(1)	1	Broad	advillin			58207190		0.582	ENSG00000135407	1197	g.chr12:58207190C>T	actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding							-84.322824	KEEP	37	59	-1	444	457	37	59	-1	7.727392	444	457	0.040201	1	0	0	0	0	1	0	0	0	--	--		0	T			AVIL_uc009zqe.1_Missense_Mutation_p.S46N|AVIL_uc001sql.3_Missense_Mutation_p.S30N	37	GBM-06-0174-TP	p.S53N	C	GGATAGGAGACTGGCCACTCT	NM_006576	NP_006567	58207190	O75366	AVIL_HUMAN	0			3	187	-	T	T	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		Missense_Mutation	53			Gelsolin-like 1.|Core (By similarity).			
AVIL	0	broad.mit.edu	GRCh37	12	58204641	58204641	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-5651-01	TCGA-41-5651-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257861.3:c.516C>T	p.Ile172=	p.I172=	ENST00000257861	NM_006576.3	172	atC/atT	0			1			A	I	uc001sqj.1	protein_coding	YES	CCDS8959.1			516/2460									central_nervous_system(1)	1	c.(514-516)ATC>ATT			Superfamily_domains:SSF82754,SMART_domains:SM00262,Gene3D:3.40.20.10,Pfam_domain:PF00626,hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF33	advillin				ENSP00000257861		19-May									COSM3398952	19-May	.		ENST00000257861	Transcript			actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	ENSG00000135407	g.chr12:58204641G>A	14188			LOW								--	--	1																																		AVIL_uc009zqe.1_Silent_p.I165I|AVIL_uc001sqk.1_5'Flank|AVIL_uc001sql.3_Silent_p.I149I	1	1			p.I172I	NM_006576	NP_006567			1	AVIL_HUMAN	AVIL	HGNC	O75366	AVIL_HUMAN			F8VVU1_HUMAN		5	545	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		UPI000013CF93	172			Gelsolin-like 2.|Core (By similarity).		SNV	AVIL,synonymous_variant,p.=,ENST00000537081,;AVIL,synonymous_variant,p.=,ENST00000257861,NM_006576.3;TSFM,downstream_gene_variant,,ENST00000548851,;AVIL,downstream_gene_variant,,ENST00000549994,;RP11-571M6.18,upstream_gene_variant,,ENST00000602327,;RNU6-1083P,upstream_gene_variant,,ENST00000384022,;AVIL,upstream_gene_variant,,ENST00000550083,;AVIL,3_prime_UTR_variant,,ENST00000549851,;AVIL,non_coding_transcript_exon_variant,,ENST00000548843,;AVIL,upstream_gene_variant,,ENST00000549548,;AVIL,upstream_gene_variant,,ENST00000550537,;AVIL,upstream_gene_variant,,ENST00000549753,;	uc001sqj.1	c.516C>T	947/2891	2	2			c.516C>T						12	SNP	c.(514-516)ATC>ATT	17	17			central_nervous_system(1)	1	Broad	advillin			58204641		0.502	ENSG00000135407	1197	g.chr12:58204641G>A	actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding							-164.169968	KEEP	15	20	-1	447	517	15	20	-1	53.919199	447	517	0.031868	1	0	0	0	0	0	0	1	0	--	--		0	A			AVIL_uc009zqe.1_Silent_p.I165I|AVIL_uc001sqk.1_5'Flank|AVIL_uc001sql.3_Silent_p.I149I	258	GBM-41-5651-TP	p.I172I	G	CATTCCATTGGATGATGACTT	NM_006576	NP_006567	58204641	O75366	AVIL_HUMAN	0			5	545	-	A	A	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		Silent	172			Gelsolin-like 2.|Core (By similarity).			
AVL9	0	broad.mit.edu	GRCh37	7	32620473	32620473	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs150772071	byFrequency	TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318709.4:c.1802G>C	p.Arg601Pro	p.R601P	ENST00000318709	NM_015060.1	601	cGg/cCg	0			1			C	R/P	uc003tcv.1	protein_coding	YES	CCDS34613.1			1802/1947										0	c.(1801-1803)CGG>CCG			hmmpanther:PTHR31017,hmmpanther:PTHR31017:SF1	AVL9 homolog (S. cerevisiase)				ENSP00000315568		15/16									COSM3411994	15/16	.		ENST00000318709	Transcript				integral to membrane		ENSG00000105778	g.chr7:32620473G>C	28994			MODERATE		2.25	medium	getma.org/?cm=msa&ty=f&p=AVL9_HUMAN&rb=521&re=648&var=R601P	NA	getma.org/?cm=var&var=hg19,7,32620473,G,C&fts=all	R601P	--	--	1																																		AVL9_uc011kai.1_Intron|AVL9_uc010kwj.1_Missense_Mutation_p.G385R	1	1		probably_damaging(0.999)	p.R601P	NM_015060	NP_055875		deleterious(0)	1	AVL9_HUMAN	AVL9	HGNC	Q8NBF6	AVL9_HUMAN					15	1948	+			UPI0000049D97	601					SNV	AVL9,missense_variant,p.Arg601Pro,ENST00000318709,NM_015060.1;AVL9,missense_variant,p.Gly475Arg,ENST00000446718,;AVL9,missense_variant,p.Arg583Pro,ENST00000409301,;AVL9,intron_variant,,ENST00000404479,;AVL9,non_coding_transcript_exon_variant,,ENST00000497020,;AVL9,non_coding_transcript_exon_variant,,ENST00000467779,;AVL9,non_coding_transcript_exon_variant,,ENST00000470500,;DPY19L1P1,downstream_gene_variant,,ENST00000417811,;	uc003tcv.1	c.1802G>C	2023/6982	3	3			c.1802G>C						7	SNP	c.(1801-1803)CGG>CCG	6	6				0	Broad	AVL9 homolog (S. cerevisiase)			32620473		0.353	ENSG00000105778	1198	g.chr7:32620473G>C		integral to membrane								29.035927	KEEP	6	8	-1	24	32	6	8	-1	34.078355	24	32	0.206349	1	0	0	0	0	1	0	0	0	--	--		0	C			AVL9_uc011kai.1_Intron|AVL9_uc010kwj.1_Missense_Mutation_p.G385R	142	GBM-14-1034-TP	p.R601P	G	ACAACTAGCCGGAATGTTGTA	NM_015060	NP_055875	32620473	Q8NBF6	AVL9_HUMAN	0			15	1948	+	C	C			Missense_Mutation	601						
AVPR1A	0	broad.mit.edu	GRCh37	12	63543656	63543656	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4931-01	TCGA-76-4931-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299178.2:c.961G>A	p.Val321Ile	p.V321I	ENST00000299178	NM_000706.4	321	Gtc/Atc	0			1			T	V/I	uc001sro.1	protein_coding	YES	CCDS8965.1			961/1257										0	c.(961-963)GTC>ATC			PROSITE_profiles:PS50262,hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF17,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)			ENSP00000299178		2-Jan									COSM3398979	2-Jan	.		ENST00000299178	Transcript			activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	ENSG00000166148	g.chr12:63543656C>T	895			MODERATE		0.465	neutral	getma.org/?cm=msa&ty=f&p=V1AR_HUMAN&rb=68&re=348&var=V321I	getma.org/pdb.php?prot=V1AR_HUMAN&from=68&to=348&var=V321I	getma.org/?cm=var&var=hg19,12,63543656,C,T&fts=all	V321I	--	--	1																																			1	1		benign(0.003)	p.V321I	NM_000706	NP_000697		tolerated(0.09)	1	V1AR_HUMAN	AVPR1A	HGNC	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)			1	2935	-			UPI0000050439	321			Extracellular (Potential).		SNV	AVPR1A,missense_variant,p.Val321Ile,ENST00000299178,NM_000706.4;AVPR1A,missense_variant,p.Val102Ile,ENST00000550940,;	uc001sro.1	c.961G>A	1067/1525	2	2			c.961G>A						12	SNP	c.(961-963)GTC>ATC	36	36				0	Broad	arginine vasopressin receptor 1A		Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	63543656		0.403	ENSG00000166148	1201	g.chr12:63543656C>T	activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity							129.904306	KEEP	31	26	-1	48	68	31	26	-1	134.041796	48	68	0.324503	1	0	0	0	0	1	0	0	0	--	--		0	T				270	GBM-76-4931-TP	p.V321I	C	CCGGTCCAGACGGACATGGGA	NM_000706	NP_000697	63543656	P37288	V1AR_HUMAN	0	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	2935	-	T	T			Missense_Mutation	321			Extracellular (Potential).			
AVPR1B	0	broad.mit.edu	GRCh37	1	206224826	206224826	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367126.4:c.386C>T	p.Thr129Met	p.T129M	ENST00000367126	NM_000707.3	129	aCg/aTg	0			1			T	T/M	uc001hds.2	protein_coding	YES	CCDS30994.1			386/1275								p.T129M(1)	ovary(2)|large_intestine(1)	3	c.(385-387)ACG>ATG			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF18,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	arginine vasopressin receptor 1B	Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)			ENSP00000356094		2-Jan	1.65E-05	9.68E-05						6.07E-05	rs782061896,COSM50331	2-Jan	.		ENST00000367126	Transcript			activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	ENSG00000198049	g.chr1:206224826C>T	896			MODERATE		3.17	medium	getma.org/?cm=msa&ty=f&p=V1BR_HUMAN&rb=51&re=338&var=T129M	getma.org/pdb.php?prot=V1BR_HUMAN&from=51&to=338&var=T129M	getma.org/?cm=var&var=hg19,1,206224826,C,T&fts=all	T129M	--	--	1																																			0,1	1		probably_damaging(1)	p.T129M	NM_000707	NP_000698		deleterious(0)	0,1	V1BR_HUMAN	AVPR1B	HGNC	P47901	V1BR_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0312)				1	544	+			UPI000005043A	129			Helical; Name=3; (Potential).		SNV	AVPR1B,missense_variant,p.Thr129Met,ENST00000367126,NM_000707.3;RP11-38J22.3,upstream_gene_variant,,ENST00000425896,;	uc001hds.2	c.386C>T	851/2237	1	1			c.386C>T						1	SNP	c.(385-387)ACG>ATG	4	4		p.T129M(1)	ovary(2)|large_intestine(1)	3	Broad	arginine vasopressin receptor 1B		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	206224826		0.657	ENSG00000198049	1202	g.chr1:206224826C>T	activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity							214.429728	KEEP	35	46	-1	44	47	35	46	-1	214.595433	44	47	0.465409	1	0	0	0	0	1	0	0	0	--	--		0	T				138	GBM-14-0813-TP	p.T129M	C	CTGGCCATGACGCTGGACCGC	NM_000707	NP_000698	206224826	P47901	V1BR_HUMAN	0	BRCA - Breast invasive adenocarcinoma(75;0.0312)		1	544	+	T	T			Missense_Mutation	129			Helical; Name=3; (Potential).			
AVPR2	0	broad.mit.edu	GRCh37	X	153171843	153171843	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01	TCGA-28-5208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337474.5:c.883G>A	p.Ala295Thr	p.A295T	ENST00000337474	NM_001146151.1	295	Gcg/Acg	0			1			A	A/T	uc004fjh.3	protein_coding		CCDS14735.1			883/1116									breast(1)	1	c.(883-885)GCG>ACG			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00896,PROSITE_profiles:PS50262,hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF20,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	arginine vasopressin receptor 2 isoform 1	Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)			ENSP00000338072		3-Feb	1.65E-05								rs781875789,COSM3406126	3-Feb	.		ENST00000337474	Transcript	1		activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity	ENSG00000126895	g.chrX:153171843G>A	897			MODERATE		1.915	medium	getma.org/?cm=msa&ty=f&p=V2R_HUMAN&rb=54&re=325&var=A295T	getma.org/pdb.php?prot=V2R_HUMAN&from=54&to=325&var=A295T	getma.org/?cm=var&var=hg19,X,153171843,G,A&fts=all	A295T	--	--	1																																		AVPR2_uc004fjg.3_Missense_Mutation_p.A84T|AVPR2_uc004fji.2_Missense_Mutation_p.A295T	0,1			possibly_damaging(0.662)	p.A295T	NM_000054	NP_000045		deleterious(0.02)	0,1	V2R_HUMAN	AVPR2	HGNC	P30518	V2R_HUMAN					2	954	+	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		UPI000005043B	295			Extracellular (Potential).		SNV	AVPR2,missense_variant,p.Ala295Thr,ENST00000358927,;AVPR2,missense_variant,p.Ala295Thr,ENST00000337474,NM_001146151.1,NM_000054.4;AVPR2,missense_variant,p.Ala295Thr,ENST00000370049,;AVPR2,intron_variant,,ENST00000430697,;ARHGAP4,downstream_gene_variant,,ENST00000370028,NM_001164741.1;ARHGAP4,downstream_gene_variant,,ENST00000350060,NM_001666.4;ARHGAP4,downstream_gene_variant,,ENST00000370016,;ARHGAP4,downstream_gene_variant,,ENST00000537206,;ARHGAP4,downstream_gene_variant,,ENST00000393721,;ARHGAP4,downstream_gene_variant,,ENST00000442172,;ARHGAP4,downstream_gene_variant,,ENST00000454164,;ARHGAP4,downstream_gene_variant,,ENST00000467421,;AVPR2,3_prime_UTR_variant,,ENST00000434679,;L1CAM,intron_variant,,ENST00000464967,;ARHGAP4,downstream_gene_variant,,ENST00000404127,;ARHGAP4,downstream_gene_variant,,ENST00000470209,;ARHGAP4,downstream_gene_variant,,ENST00000420383,;ARHGAP4,downstream_gene_variant,,ENST00000494302,;ARHGAP4,downstream_gene_variant,,ENST00000494397,;ARHGAP4,downstream_gene_variant,,ENST00000466928,;ARHGAP4,downstream_gene_variant,,ENST00000461739,;	uc004fjh.3	c.883G>A	954/1622	2	2			c.883G>A						23	SNP	c.(883-885)GCG>ACG	46	46			breast(1)	1	Broad	arginine vasopressin receptor 2 isoform 1		Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	153171843		0.647	ENSG00000126895	1203	g.chrX:153171843G>A	activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity							0.086655	KEEP	6	7	-1	77	68	6	7	-1	24.207506	77	68	0.086331	1	0	0	0	0	1	0	0	0	--	--		0	A			AVPR2_uc004fjg.3_Missense_Mutation_p.A84T|AVPR2_uc004fji.2_Missense_Mutation_p.A295T	217	GBM-28-5208-TP	p.A295T	G	GCTGTGGGCCGCGTGGGACCC	NM_000054	NP_000045	153171843	P30518	V2R_HUMAN	0			2	954	+	A	A	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	295			Extracellular (Potential).			
AWAT1	158833	broad.mit.edu	GRCh37	X	69455983	69455983	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-0157-01	TCGA-06-0157-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374521.3:c.249C>A	p.Pro83=	p.P83=	ENST00000374521	NM_001013579.2	83	ccC/ccA	0			1			A	P	uc004dxy.2	protein_coding	YES	CCDS35321.1			249/987									ovary(3)	3	c.(247-249)CCC>CCA			Pfam_domain:PF03982,hmmpanther:PTHR12317,hmmpanther:PTHR12317:SF16	wax synthase 1				ENSP00000363645		7-Mar									COSM2150065,COSM2150064	7-Mar	.		ENST00000374521	Transcript			lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	ENSG00000204195	g.chrX:69455983C>A	23252			LOW								--	--	1																																			1,1	1			p.P83P	NM_001013579	NP_001013597			1,1	AWAT1_HUMAN	AWAT1	HGNC	Q58HT5	AWAT1_HUMAN					3	290	+			UPI00002122D8	83					SNV	AWAT1,synonymous_variant,p.=,ENST00000374521,NM_001013579.2;AWAT1,non_coding_transcript_exon_variant,,ENST00000480702,;	uc004dxy.2	c.249C>A	290/1365	1	1			c.249C>A						23	SNP	c.(247-249)CCC>CCA	51	51			ovary(3)	3	Broad	wax synthase 1			69455983		0.483	ENSG00000204195	1204	g.chrX:69455983C>A	lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity							97.29399	KEEP	16	25	0.609756098	41	27	16	25	0.609756098	98.742081	41	27	0.368421	1	0	0	0	0	0	0	1	0	--	--		0	A				28	GBM-06-0157-TP	p.P83P	C	ACTATTTCCCCATTACGGTAA	NM_001013579	NP_001013597	69455983	Q58HT5	AWAT1_HUMAN	0			3	290	+	A	A			Silent	83						
AWAT2	158835	broad.mit.edu	GRCh37	X	69262197	69262197	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0122-01	TCGA-06-0122-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276101.3:c.687C>T	p.Asp229=	p.D229=	ENST00000276101	NM_001002254.1	229	gaC/gaT	0			1			A	D	uc004dxt.1	protein_coding	YES	CCDS35320.1			687/1002										0	c.(685-687)GAC>GAT			Superfamily_domains:0039877,Pfam_domain:PF03982,hmmpanther:PTHR12317,hmmpanther:PTHR12317:SF12	wax synthase 2				ENSP00000421172		8-Jun									COSM3406544	8-Jun	.		ENST00000276101	Transcript				endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	ENSG00000147160	g.chrX:69262197G>A	23251			LOW								--	--	1																																			1	1			p.D229D	NM_001002254	NP_001002254			1	AWAT2_HUMAN	AWAT2	HGNC	Q6E213	AWAT2_HUMAN					6	693	-			UPI00001D7BE0	229					SNV	AWAT2,synonymous_variant,p.=,ENST00000276101,NM_001002254.1;EDA,downstream_gene_variant,,ENST00000374552,NM_001399.4;EDA,downstream_gene_variant,,ENST00000374553,NM_001005609.1,NM_001005612.2;AWAT2,missense_variant,p.Pro165Ser,ENST00000440401,;AWAT2,downstream_gene_variant,,ENST00000443056,;	uc004dxt.1	c.687C>T	693/2124	2	2			c.687C>T						23	SNP	c.(685-687)GAC>GAT	26	26				0	Broad	wax synthase 2			69262197		0.502	ENSG00000147160	1205	g.chrX:69262197G>A		endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	NSCLC(80;1334 1436 9350 24214 26427)			NSCLC(80;1334 1436 9350 24214 26427)			51.102342	KEEP	15	8	-1	28	13	15	8	-1	52.150449	28	13	0.351852	1	0	0	0	0	0	0	1	0	--	--		0	A				10	GBM-06-0122-TP	p.D229D	G	GATCATAGAGGTCCGTCTCCC	NM_001002254	NP_001002254	69262197	Q6E213	AWAT2_HUMAN	0			6	693	-	A	A			Silent	229						
AWAT2	0	broad.mit.edu	GRCh37	X	69263788	69263788	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-32-2494-01	TCGA-32-2494-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276101.3:c.255T>C	p.Tyr85=	p.Y85=	ENST00000276101	NM_001002254.1	85	taT/taC	0			1			G	Y	uc004dxt.1	protein_coding	YES	CCDS35320.1			255/1002										0	c.(253-255)TAT>TAC			Pfam_domain:PF03982,hmmpanther:PTHR12317,hmmpanther:PTHR12317:SF12	wax synthase 2				ENSP00000421172		8-Mar	4.96E-05							0.000195	rs778051530,COSM3406545	8-Mar	.		ENST00000276101	Transcript				endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	ENSG00000147160	g.chrX:69263788A>G	23251			LOW								--	--	1																																			0,1	1			p.Y85Y	NM_001002254	NP_001002254			0,1	AWAT2_HUMAN	AWAT2	HGNC	Q6E213	AWAT2_HUMAN					3	261	-			UPI00001D7BE0	85					SNV	AWAT2,synonymous_variant,p.=,ENST00000276101,NM_001002254.1;EDA,downstream_gene_variant,,ENST00000374552,NM_001399.4;EDA,downstream_gene_variant,,ENST00000374553,NM_001005609.1,NM_001005612.2;AWAT2,non_coding_transcript_exon_variant,,ENST00000443056,;AWAT2,upstream_gene_variant,,ENST00000440401,;	uc004dxt.1	c.255T>C	261/2124	3	3			c.255T>C						23	SNP	c.(253-255)TAT>TAC	15	15				0	Broad	wax synthase 2			69263788		0.557	ENSG00000147160	1205	g.chrX:69263788A>G		endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	NSCLC(80;1334 1436 9350 24214 26427)			NSCLC(80;1334 1436 9350 24214 26427)			18.440419	KEEP	3	5	-1	10	11	3	5	-1	19.630107	10	11	0.26087	1	0	0	0	0	0	0	1	0	--	--		0	G				236	GBM-32-2494-TP	p.Y85Y	A	TGAGAGGGAAATAATCGCTGT	NM_001002254	NP_001002254	69263788	Q6E213	AWAT2_HUMAN	0			3	261	-	G	G			Silent	85						
AXDND1	0	broad.mit.edu	GRCh37	1	179460808	179460808	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-6698-01	TCGA-06-6698-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367618.3:c.2227C>G	p.Arg743Gly	p.R743G	ENST00000367618	NM_144696.5	743	Cga/Gga	0			1			G	R/G	uc001gmo.2	protein_coding	YES	CCDS30948.1			2227/3039										0	c.(2227-2229)CGA>GGA			hmmpanther:PTHR23052	hypothetical protein LOC126859 isoform 1				ENSP00000356590		19/26	8.24E-06					1.52E-05			rs771074994,COSM3400045	19/26	.		ENST00000367618	Transcript						ENSG00000162779	g.chr1:179460808C>G	26564			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=AXDN1_HUMAN&rb=397&re=919&var=R743G	NA	getma.org/?cm=var&var=hg19,1,179460808,C,G&fts=all	R743G	--	--	1																																		C1orf125_uc009wxg.2_RNA|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.R743G|C1orf125_uc009wxh.2_RNA	0,1	1		benign(0.002)	p.R743G	NM_144696	NP_653297		deleterious(0.05)	0,1	AXDN1_HUMAN	AXDND1	HGNC	Q5T1B0	AXDN1_HUMAN			D6REE1_HUMAN,D6RDY4_HUMAN,D6RCN1_HUMAN,D6RB87_HUMAN,D6R9B7_HUMAN		19	2354	+			UPI000022AC91	743					SNV	AXDND1,missense_variant,p.Arg743Gly,ENST00000367618,NM_144696.5;AXDND1,missense_variant,p.Arg677Gly,ENST00000434088,;AXDND1,downstream_gene_variant,,ENST00000457238,;AL160286.1,upstream_gene_variant,,ENST00000600581,;AXDND1,upstream_gene_variant,,ENST00000484883,;AXDND1,3_prime_UTR_variant,,ENST00000511157,;	uc001gmo.2	c.2227C>G	2614/3642	3	3			c.2227C>G						1	SNP	c.(2227-2229)CGA>GGA	1	1				0	Broad	hypothetical protein LOC126859 isoform 1			179460808		0.413	ENSG00000162779	1950	g.chr1:179460808C>G										303.254569	KEEP	43	48	-1	13	16	43	48	-1	310.504576	13	16	0.776699	1	0	0	0	0	1	0	0	0	--	--		0	G			C1orf125_uc009wxg.2_RNA|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.R743G|C1orf125_uc009wxh.2_RNA	112	GBM-06-6698-TP	p.R743G	C	AGGAGTTGCGCGATTGGAGCT	NM_144696	NP_653297	179460808	Q5T1B0	AXDN1_HUMAN	0			19	2354	+	G	G			Missense_Mutation	743						
AXDND1	0	broad.mit.edu	GRCh37	1	179354443	179354443	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01	TCGA-28-5208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367618.3:c.812G>A	p.Arg271Gln	p.R271Q	ENST00000367618	NM_144696.5	271	cGa/cAa	0			1			A	R/Q	uc001gmo.2	protein_coding	YES	CCDS30948.1			812/3039										0	c.(811-813)CGA>CAA			Pfam_domain:PF10211,hmmpanther:PTHR23052	hypothetical protein LOC126859 isoform 1				ENSP00000356590		26-Sep	8.24E-06					1.50E-05			rs764766519,COSM3400041	26-Sep	.		ENST00000367618	Transcript						ENSG00000162779	g.chr1:179354443G>A	26564			MODERATE		2.86	medium	getma.org/?cm=msa&ty=f&p=AXDN1_HUMAN&rb=199&re=392&var=R271Q	NA	getma.org/?cm=var&var=hg19,1,179354443,G,A&fts=all	R271Q	--	--	1																																		C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Missense_Mutation_p.R59Q|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.R271Q	0,1	1		possibly_damaging(0.857)	p.R271Q	NM_144696	NP_653297		deleterious(0.02)	0,1	AXDN1_HUMAN	AXDND1	HGNC	Q5T1B0	AXDN1_HUMAN			D6REE1_HUMAN,D6RDY4_HUMAN,D6RCN1_HUMAN,D6RB87_HUMAN,D6R9B7_HUMAN		9	939	+			UPI000022AC91	271					SNV	AXDND1,missense_variant,p.Arg271Gln,ENST00000367618,NM_144696.5;AXDND1,missense_variant,p.Arg205Gln,ENST00000434088,;AXDND1,missense_variant,p.Arg271Gln,ENST00000457238,;AXDND1,non_coding_transcript_exon_variant,,ENST00000461179,;AXDND1,downstream_gene_variant,,ENST00000510593,;AXDND1,missense_variant,p.Arg271Gln,ENST00000511157,;	uc001gmo.2	c.812G>A	1199/3642	2	2			c.812G>A						1	SNP	c.(811-813)CGA>CAA	39	39				0	Broad	hypothetical protein LOC126859 isoform 1			179354443		0.358	ENSG00000162779	1950	g.chr1:179354443G>A										185.786851	KEEP	30	40	-1	61	84	30	40	-1	191.162783	61	84	0.326733	1	0	0	0	0	1	0	0	0	--	--		0	A			C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Missense_Mutation_p.R59Q|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.R271Q	217	GBM-28-5208-TP	p.R271Q	G	GAACTTATTCGACAAGTCAGT	NM_144696	NP_653297	179354443	Q5T1B0	AXDN1_HUMAN	0			9	939	+	A	A			Missense_Mutation	271						
AXDND1	126859		GRCh37	1	179364322	179364322	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000367618.3:c.1094C>T	p.Ala365Val	p.A365V	ENST00000367618	NM_144696.5	365	gCg/gTg	0																																																																																																																																																																																																																																												
AXIN1	0	broad.mit.edu	GRCh37	16	347056	347056	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-6695-01	TCGA-06-6695-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262320.3:c.1955G>C	p.Gly652Ala	p.G652A	ENST00000262320	NM_003502.3	652	gGg/gCg	0			1			G	G/A	uc002cgp.1	protein_coding	YES	CCDS10405.1			1955/2589									breast(1)|liver(1)	2	c.(1954-1956)GGG>GCG				axin 1 isoform a				ENSP00000262320		11-Jul									COSM3402315	11-Jul	.		ENST00000262320	Transcript	1		activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	ENSG00000103126	g.chr16:347056C>G	903			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=AXIN1_HUMAN&rb=499&re=698&var=G652A	NA	getma.org/?cm=var&var=hg19,16,347056,C,G&fts=all	G652A	--	--	1																																		AXIN1_uc002cgq.1_Missense_Mutation_p.G652A	1	1		possibly_damaging(0.615)	p.G652A	NM_003502	NP_003493		tolerated(0.2)	1	AXIN1_HUMAN	AXIN1	HGNC	O15169	AXIN1_HUMAN					7	2132	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	UPI000012669E	652			Interaction with RNF111.|Interaction with PPP2CA.		SNV	AXIN1,missense_variant,p.Gly652Ala,ENST00000262320,NM_003502.3;AXIN1,missense_variant,p.Gly652Ala,ENST00000354866,NM_181050.2;AXIN1,upstream_gene_variant,,ENST00000457798,;AXIN1,downstream_gene_variant,,ENST00000481769,;AXIN1,splice_region_variant,,ENST00000461023,;	uc002cgp.1	c.1955G>C	2327/3643	3	3			c.1955G>C						16	SNP	c.(1954-1956)GGG>GCG	56	56			breast(1)|liver(1)	2	Broad	axin 1 isoform a			347056		0.627	ENSG00000103126	1206	g.chr16:347056C>G	activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			659			659	120.286049	KEEP	25	27	-1	46	57	25	27	-1	123.689933	46	57	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	G			AXIN1_uc002cgq.1_Missense_Mutation_p.G652A	110	GBM-06-6695-TP	p.G652A	C	GGGTGCTCACCCGTGGCCGGT	NM_003502	NP_003493	347056	O15169	AXIN1_HUMAN	0			7	2132	-	G	G		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	Missense_Mutation	652			Interaction with RNF111.|Interaction with PPP2CA.			
AXIN1	0	broad.mit.edu	GRCh37	16	339566	339566	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2499-01	TCGA-28-2499-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262320.3:c.2336C>T	p.Pro779Leu	p.P779L	ENST00000262320	NM_003502.3	779	cCg/cTg	0			1			A	P/L	uc002cgp.1	protein_coding	YES	CCDS10405.1			2336/2589									breast(1)|liver(1)	2	c.(2335-2337)CCG>CTG				axin 1 isoform a				ENSP00000262320		11-Oct									COSM417018	11-Oct	.		ENST00000262320	Transcript	1		activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	ENSG00000103126	g.chr16:339566G>A	903			MODERATE		1.645	low	getma.org/?cm=msa&ty=f&p=AXIN1_HUMAN&rb=699&re=779&var=P779L	NA	getma.org/?cm=var&var=hg19,16,339566,G,A&fts=all	P779L	--	--	1																																		AXIN1_uc002cgq.1_Missense_Mutation_p.P743L	1	1		benign(0.002)	p.P779L	NM_003502	NP_003493		tolerated(0.39)	1	AXIN1_HUMAN	AXIN1	HGNC	O15169	AXIN1_HUMAN					10	2513	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	UPI000012669E	779			Interaction with PPP2CA.		SNV	AXIN1,missense_variant,p.Pro779Leu,ENST00000262320,NM_003502.3;AXIN1,missense_variant,p.Pro743Leu,ENST00000354866,NM_181050.2;AXIN1,missense_variant,p.Pro31Leu,ENST00000457798,;PDIA2,downstream_gene_variant,,ENST00000219406,NM_006849.2;PDIA2,downstream_gene_variant,,ENST00000404312,;PDIA2,downstream_gene_variant,,ENST00000456379,;PDIA2,downstream_gene_variant,,ENST00000435833,;PDIA2,downstream_gene_variant,,ENST00000462950,;AXIN1,non_coding_transcript_exon_variant,,ENST00000461023,;PDIA2,downstream_gene_variant,,ENST00000482665,;PDIA2,downstream_gene_variant,,ENST00000467212,;	uc002cgp.1	c.2336C>T	2708/3643	2	2			c.2336C>T						16	SNP	c.(2335-2337)CCG>CTG	29	29			breast(1)|liver(1)	2	Broad	axin 1 isoform a			339566		0.637	ENSG00000103126	1206	g.chr16:339566G>A	activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			659			659	121.829185	KEEP	25	16	-1	24	34	25	16	-1	122.173904	24	34	0.433333	1	0	0	0	0	1	0	0	0	--	--		0	A			AXIN1_uc002cgq.1_Missense_Mutation_p.P743L	208	GBM-28-2499-TP	p.P779L	G	GCTGTCACACGGCTGGGCACT	NM_003502	NP_003493	339566	O15169	AXIN1_HUMAN	0			10	2513	-	A	A		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	Missense_Mutation	779			Interaction with PPP2CA.			
AXIN1	0	broad.mit.edu	GRCh37	16	339599	339599	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs138816818		TCGA-28-2513-01	TCGA-28-2513-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262320.3:c.2303C>A	p.Ser768Ter	p.S768*	ENST00000262320	NM_003502.3	768	tCg/tAg	0			1			T	S/*	uc002cgp.1	protein_coding	YES	CCDS10405.1			2303/2589									breast(1)|liver(1)	2	c.(2302-2304)TCG>TAG				axin 1 isoform a				ENSP00000262320		11-Oct									COSM3402313	11-Oct	.		ENST00000262320	Transcript	1		activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	ENSG00000103126	g.chr16:339599G>T	903			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,16,339599,G,T&fts=all	S768*	--	--	1																																		AXIN1_uc002cgq.1_Nonsense_Mutation_p.S732*	1	1			p.S768*	NM_003502	NP_003493			1	AXIN1_HUMAN	AXIN1	HGNC	O15169	AXIN1_HUMAN					10	2480	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	UPI000012669E	768			Interaction with PPP2CA.		SNV	AXIN1,stop_gained,p.Ser768Ter,ENST00000262320,NM_003502.3;AXIN1,stop_gained,p.Ser732Ter,ENST00000354866,NM_181050.2;AXIN1,stop_gained,p.Ser20Ter,ENST00000457798,;PDIA2,downstream_gene_variant,,ENST00000219406,NM_006849.2;PDIA2,downstream_gene_variant,,ENST00000404312,;PDIA2,downstream_gene_variant,,ENST00000456379,;PDIA2,downstream_gene_variant,,ENST00000435833,;PDIA2,downstream_gene_variant,,ENST00000462950,;AXIN1,non_coding_transcript_exon_variant,,ENST00000461023,;PDIA2,downstream_gene_variant,,ENST00000482665,;PDIA2,downstream_gene_variant,,ENST00000467212,;	uc002cgp.1	c.2303C>A	2675/3643	5	2			c.2303C>A						16	SNP	c.(2302-2304)TCG>TAG	32	32			breast(1)|liver(1)	2	Broad	axin 1 isoform a			339599		0.637	ENSG00000103126	1206	g.chr16:339599G>T	activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding		p.S768L(VMCUB1-Tumor)	659		p.S768L(VMCUB1-Tumor)	659	4.604968	KEEP	2	6	0.25	36	27	2	6	0.25	13.688962	36	27	0.103448	1	0	0	0	0	0	1	0	0	--	--		0	T			AXIN1_uc002cgq.1_Nonsense_Mutation_p.S732*	213	GBM-28-2513-TP	p.S768*	G	CTTCCTCTGCGATCTTGTCCT	NM_003502	NP_003493	339599	O15169	AXIN1_HUMAN	0			10	2480	-	T	T		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	Nonsense_Mutation	768			Interaction with PPP2CA.			
AXL	558	broad.mit.edu	GRCh37	19	41726597	41726597	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0878-01	TCGA-06-0878-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301178.4:c.142C>T	p.Arg48Trp	p.R48W	ENST00000301178	NM_021913.4	48	Cgg/Tgg	0			1			T	R/W	uc010ehj.2	protein_coding	YES	CCDS12575.1			142/2685									lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13	c.(142-144)CGG>TGG			PROSITE_profiles:PS50835,hmmpanther:PTHR24416:SF3,hmmpanther:PTHR24416,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	AXL receptor tyrosine kinase isoform 1				ENSP00000301178		20-Feb	8.24E-06					2.34E-05			rs774132867,COSM996947,COSM3226713	20-Feb	.		ENST00000301178	Transcript				integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	ENSG00000167601	g.chr19:41726597C>T	905			MODERATE		1.93	medium	getma.org/?cm=msa&ty=f&p=UFO_HUMAN&rb=34&re=134&var=R48W	getma.org/pdb.php?prot=UFO_HUMAN&from=34&to=134&var=R48W	getma.org/?cm=var&var=hg19,19,41726597,C,T&fts=all	R48W	--	--	1																																		CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Missense_Mutation_p.R48W|AXL_uc010ehk.2_Missense_Mutation_p.R48W	0,1,1	1		probably_damaging(0.994)	p.R48W	NM_021913	NP_068713		deleterious(0.02)	0,1,1	UFO_HUMAN	AXL	HGNC	P30530	UFO_HUMAN			Q15839_HUMAN,M0R0W6_HUMAN		2	332	+			UPI000013E6DB	48			Extracellular (Potential).|Interaction with GAS6.|Ig-like C2-type 1.		SNV	AXL,missense_variant,p.Arg48Trp,ENST00000301178,NM_021913.4;AXL,missense_variant,p.Arg48Trp,ENST00000359092,NM_001699.5;CTD-2195B23.3,downstream_gene_variant,,ENST00000598541,;AXL,non_coding_transcript_exon_variant,,ENST00000594880,;AXL,non_coding_transcript_exon_variant,,ENST00000599659,;	uc010ehj.2	c.142C>T	332/4737	2	2			c.142C>T						19	SNP	c.(142-144)CGG>TGG	35	35			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13	Broad	AXL receptor tyrosine kinase isoform 1			41726597		0.622	ENSG00000167601	1208	g.chr19:41726597C>T		integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			318			318	-1.411092	KEEP	2	1	-1	19	26	2	1	-1	7.076829	19	26	0.068182	1	0	0	0	0	1	0	0	0	--	--		0	T			CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Missense_Mutation_p.R48W|AXL_uc010ehk.2_Missense_Mutation_p.R48W	74	GBM-06-0878-TP	p.R48W	C	CACAGGTGCCCGGGGACTCAC	NM_021913	NP_068713	41726597	P30530	UFO_HUMAN	0			2	332	+	T	T			Missense_Mutation	48			Extracellular (Potential).|Interaction with GAS6.|Ig-like C2-type 1.			
AXL	0	broad.mit.edu	GRCh37	19	41744401	41744401	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-5219-01	TCGA-28-5219-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301178.4:c.1021A>G	p.Ser341Gly	p.S341G	ENST00000301178	NM_021913.4	341	Agt/Ggt	0			1			G	S/G	uc010ehj.2	protein_coding	YES	CCDS12575.1			1021/2685									lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13	c.(1021-1023)AGT>GGT			PROSITE_profiles:PS50853,hmmpanther:PTHR24416:SF3,hmmpanther:PTHR24416,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	AXL receptor tyrosine kinase isoform 1				ENSP00000301178		20-Aug									COSM3404268,COSM3404267	20-Aug	.		ENST00000301178	Transcript				integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	ENSG00000167601	g.chr19:41744401A>G	905			MODERATE		2.025	medium	getma.org/?cm=msa&ty=f&p=UFO_HUMAN&rb=335&re=418&var=S341G	NA	getma.org/?cm=var&var=hg19,19,41744401,A,G&fts=all	S341G	--	--	1																																		CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Missense_Mutation_p.S341G|AXL_uc010ehk.2_Missense_Mutation_p.S341G	1,1	1		benign(0.217)	p.S341G	NM_021913	NP_068713		deleterious(0)	1,1	UFO_HUMAN	AXL	HGNC	P30530	UFO_HUMAN			Q15839_HUMAN,M0R0W6_HUMAN		8	1211	+			UPI000013E6DB	341			Extracellular (Potential).|Fibronectin type-III 2.		SNV	AXL,missense_variant,p.Ser341Gly,ENST00000301178,NM_021913.4;AXL,missense_variant,p.Ser341Gly,ENST00000359092,NM_001699.5;AXL,missense_variant,p.Ser73Gly,ENST00000593513,NM_001278599.1;AXL,non_coding_transcript_exon_variant,,ENST00000599659,;	uc010ehj.2	c.1021A>G	1211/4737	3	3			c.1021A>G						19	SNP	c.(1021-1023)AGT>GGT	55	55			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13	Broad	AXL receptor tyrosine kinase isoform 1			41744401		0.657	ENSG00000167601	1208	g.chr19:41744401A>G		integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			318			318	-17.366566	KEEP	3	1	-1	54	65	3	1	-1	7.741919	54	65	0.029126	1	0	0	0	0	1	0	0	0	--	--		0	G			CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Missense_Mutation_p.S341G|AXL_uc010ehk.2_Missense_Mutation_p.S341G	225	GBM-28-5219-TP	p.S341G	A	TGAGAACATTAGTGCTACGCG	NM_021913	NP_068713	41744401	P30530	UFO_HUMAN	0			8	1211	+	G	G			Missense_Mutation	341			Extracellular (Potential).|Fibronectin type-III 2.			
AZGP1	563	broad.mit.edu	GRCh37	7	99564649	99564649	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0686-01	TCGA-06-0686-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000292401.4:c.874G>C	p.Val292Leu	p.V292L	ENST00000292401	NM_001185.3	292	Gtg/Ctg	0			1			G	V/L	uc003ush.2	protein_coding	YES	CCDS5680.1			874/897									ovary(1)|central_nervous_system(1)	2	c.(874-876)GTG>CTG			Superfamily_domains:SSF48726,Gene3D:2.60.40.10,hmmpanther:PTHR16675:SF156,hmmpanther:PTHR16675,PROSITE_profiles:PS50835	alpha-2-glycoprotein 1, zinc				ENSP00000292401		4-Apr									COSM3412573	4-Apr	.		ENST00000292401	Transcript			antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	ENSG00000160862	g.chr7:99564649C>G	910			MODERATE		0.965	low	getma.org/?cm=msa&ty=f&p=ZA2G_HUMAN&rb=211&re=292&var=V292L	getma.org/pdb.php?prot=ZA2G_HUMAN&from=211&to=292&var=V292L	getma.org/?cm=var&var=hg19,7,99564649,C,G&fts=all	V292L	--	--	1																																			1	1		benign(0.11)	p.V292L	NM_001185	NP_001176		tolerated(0.11)	1	ZA2G_HUMAN	AZGP1	HGNC	P25311	ZA2G_HUMAN					4	918	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		UPI00000720DE	292			Ig-like C1-type.		SNV	AZGP1,missense_variant,p.Val292Leu,ENST00000292401,NM_001185.3;AZGP1,3_prime_UTR_variant,,ENST00000411734,;AZGP1,3_prime_UTR_variant,,ENST00000419575,;AZGP1,non_coding_transcript_exon_variant,,ENST00000483612,;AZGP1,downstream_gene_variant,,ENST00000477251,;AZGP1,downstream_gene_variant,,ENST00000495765,;	uc003ush.2	c.874G>C	1011/1307	3	3			c.874G>C						7	SNP	c.(874-876)GTG>CTG	14	14			ovary(1)|central_nervous_system(1)	2	Broad	alpha-2-glycoprotein 1, zinc			99564649		0.637	ENSG00000160862	1209	g.chr7:99564649C>G	antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity							154.210067	KEEP	35	31	-1	186	117	35	31	-1	182.394696	186	117	0.187702	1	0	0	0	0	1	0	0	0	--	--		0	G				64	GBM-06-0686-TP	p.V292L	C	CAGGGCACCACGAGGGGCTGG	NM_001185	NP_001176	99564649	P25311	ZA2G_HUMAN	0			4	918	-	G	G	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		Missense_Mutation	292			Ig-like C1-type.			
AZGP1	0	broad.mit.edu	GRCh37	7	99569626	99569626	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01	TCGA-14-0789-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000292401.4:c.80G>A	p.Arg27His	p.R27H	ENST00000292401	NM_001185.3	27	cGt/cAt	0			1			T	R/H	uc003ush.2	protein_coding	YES	CCDS5680.1			80/897									ovary(1)|central_nervous_system(1)	2	c.(79-81)CGT>CAT			Superfamily_domains:SSF54452,Pfam_domain:PF00129,hmmpanther:PTHR16675:SF156,hmmpanther:PTHR16675	alpha-2-glycoprotein 1, zinc				ENSP00000292401		4-Feb									COSM3412576	4-Feb	.		ENST00000292401	Transcript			antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	ENSG00000160862	g.chr7:99569626C>T	910			MODERATE		-0.69	neutral	getma.org/?cm=msa&ty=f&p=ZA2G_HUMAN&rb=26&re=201&var=R27H	getma.org/pdb.php?prot=ZA2G_HUMAN&from=26&to=201&var=R27H	getma.org/?cm=var&var=hg19,7,99569626,C,T&fts=all	R27H	--	--	1																																			1	1		benign(0)	p.R27H	NM_001185	NP_001176		tolerated(0.15)	1	ZA2G_HUMAN	AZGP1	HGNC	P25311	ZA2G_HUMAN					2	124	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		UPI00000720DE	27					SNV	AZGP1,missense_variant,p.Arg24His,ENST00000411734,;AZGP1,missense_variant,p.Arg27His,ENST00000292401,NM_001185.3;AZGP1,upstream_gene_variant,,ENST00000419575,;AZGP1,upstream_gene_variant,,ENST00000483612,;AZGP1,non_coding_transcript_exon_variant,,ENST00000495765,;AZGP1,upstream_gene_variant,,ENST00000477251,;	uc003ush.2	c.80G>A	217/1307	1	1			c.80G>A						7	SNP	c.(79-81)CGT>CAT	3	3			ovary(1)|central_nervous_system(1)	2	Broad	alpha-2-glycoprotein 1, zinc			99569626		0.527	ENSG00000160862	1209	g.chr7:99569626C>T	antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity							68.544095	KEEP	14	19	-1	80	54	14	19	-1	81.717634	80	54	0.198718	1	0	0	0	0	1	0	0	0	--	--		0	T				136	GBM-14-0789-TP	p.R27H	C	CAGAGAGTAACGACCTGCAAA	NM_001185	NP_001176	99569626	P25311	ZA2G_HUMAN	0			2	124	-	T	T	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		Missense_Mutation	27						
AZGP1	0	broad.mit.edu	GRCh37	7	99569575	99569575	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-16-0861-01	TCGA-16-0861-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000292401.4:c.131T>A	p.Val44Asp	p.V44D	ENST00000292401	NM_001185.3	44	gTc/gAc	0			1			T	V/D	uc003ush.2	protein_coding	YES	CCDS5680.1			131/897									ovary(1)|central_nervous_system(1)	2	c.(130-132)GTC>GAC			Superfamily_domains:SSF54452,Pfam_domain:PF00129,Gene3D:3.30.500.10,hmmpanther:PTHR16675:SF156,hmmpanther:PTHR16675	alpha-2-glycoprotein 1, zinc				ENSP00000292401		4-Feb									COSM3412575	4-Feb	.		ENST00000292401	Transcript			antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	ENSG00000160862	g.chr7:99569575A>T	910			MODERATE		0.3	neutral	getma.org/?cm=msa&ty=f&p=ZA2G_HUMAN&rb=26&re=201&var=V44D	getma.org/pdb.php?prot=ZA2G_HUMAN&from=26&to=201&var=V44D	getma.org/?cm=var&var=hg19,7,99569575,A,T&fts=all	V44D	--	--	1																																			1	1		benign(0.221)	p.V44D	NM_001185	NP_001176		tolerated(0.64)	1	ZA2G_HUMAN	AZGP1	HGNC	P25311	ZA2G_HUMAN					2	175	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		UPI00000720DE	44					SNV	AZGP1,missense_variant,p.Val41Asp,ENST00000411734,;AZGP1,missense_variant,p.Val44Asp,ENST00000292401,NM_001185.3;AZGP1,missense_variant,p.Val15Asp,ENST00000419575,;AZGP1,upstream_gene_variant,,ENST00000483612,;AZGP1,non_coding_transcript_exon_variant,,ENST00000495765,;AZGP1,upstream_gene_variant,,ENST00000477251,;	uc003ush.2	c.131T>A	268/1307	1	1			c.131T>A						7	SNP	c.(130-132)GTC>GAC	7	7			ovary(1)|central_nervous_system(1)	2	Broad	alpha-2-glycoprotein 1, zinc			99569575		0.502	ENSG00000160862	1209	g.chr7:99569575A>T	antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity							-21.364031	KEEP	5	2	-1	78	70	5	2	-1	10.585026	78	70	0.042254	1	0	0	0	0	1	0	0	0	--	--		0	T				156	GBM-16-0861-TP	p.V44D	A	AAACGCGGGGACGTCTTCAAC	NM_001185	NP_001176	99569575	P25311	ZA2G_HUMAN	0			2	175	-	T	T	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		Missense_Mutation	44						
AZGP1	0	broad.mit.edu	GRCh37	7	99565820	99565820	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000292401.4:c.571C>T	p.Arg191Trp	p.R191W	ENST00000292401	NM_001185.3	191	Cgg/Tgg	0	A:0.0002		1			A	R/W	uc003ush.2	protein_coding	YES	CCDS5680.1			571/897									ovary(1)|central_nervous_system(1)	2	c.(571-573)CGG>TGG			Prints_domain:PR01638,Superfamily_domains:SSF54452,Pfam_domain:PF00129,Gene3D:3.30.500.10,hmmpanther:PTHR16675:SF156,hmmpanther:PTHR16675	alpha-2-glycoprotein 1, zinc			A:0	ENSP00000292401		4-Mar	4.12E-05		8.64E-05			5.99E-05			rs370476332,COSM3412574	4-Mar	.		ENST00000292401	Transcript			antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	ENSG00000160862	g.chr7:99565820G>A	910			MODERATE		2.685	medium	getma.org/?cm=msa&ty=f&p=ZA2G_HUMAN&rb=26&re=201&var=R191W	getma.org/pdb.php?prot=ZA2G_HUMAN&from=26&to=201&var=R191W	getma.org/?cm=var&var=hg19,7,99565820,G,A&fts=all	R191W	--	--	1																																			0,1	1		possibly_damaging(0.686)	p.R191W	NM_001185	NP_001176		deleterious(0)	0,1	ZA2G_HUMAN	AZGP1	HGNC	P25311	ZA2G_HUMAN					3	615	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		UPI00000720DE	191					SNV	AZGP1,missense_variant,p.Arg188Trp,ENST00000411734,;AZGP1,missense_variant,p.Arg191Trp,ENST00000292401,NM_001185.3;AZGP1,intron_variant,,ENST00000419575,;AZGP1,upstream_gene_variant,,ENST00000483612,;AZGP1,non_coding_transcript_exon_variant,,ENST00000477251,;AZGP1,downstream_gene_variant,,ENST00000495765,;	uc003ush.2	c.571C>T	708/1307	2	2			c.571C>T						7	SNP	c.(571-573)CGG>TGG	26	26			ovary(1)|central_nervous_system(1)	2	Broad	alpha-2-glycoprotein 1, zinc			99565820		0.552	ENSG00000160862	1209	g.chr7:99565820G>A	antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity							84.894725	KEEP	14	22	-1	63	45	14	22	-1	91.751357	63	45	0.259542	1	0	0	0	0	1	0	0	0	--	--		0	A				230	GBM-32-1979-TP	p.R191W	G	AGGTATTTCCGCAGAGTCGCA	NM_001185	NP_001176	99565820	P25311	ZA2G_HUMAN	0			3	615	-	A	A	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		Missense_Mutation	191						
AZGP1	563		GRCh37	7	99564820	99564820	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000292401.4:c.703del	p.Ile235LeufsTer101	p.I235Lfs*101	ENST00000292401	NM_001185.3	235	Att/tt	0																																																																																																																																																																																																																																												
AZI2	64343	broad.mit.edu	GRCh37	3	28381958	28381958	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0216-01	TCGA-06-0216-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000479665.1:c.151C>T	p.Arg51Ter	p.R51*	ENST00000479665	NM_022461.4	51	Cga/Tga	0			1			A	R/*	uc003ceb.2	protein_coding	YES	CCDS2647.1			151/1179									ovary(2)	2	c.(151-153)CGA>TGA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14432	5-azacytidine induced 2 isoform a				ENSP00000419371		8-Feb									COSM3408570,COSM3408571	8-Feb	.		ENST00000479665	Transcript				mitochondrion|plasma membrane		ENSG00000163512	g.chr3:28381958G>A	24002			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,3,28381958,G,A&fts=all	R51*	--	--	1																																		AZI2_uc003cec.2_Translation_Start_Site|AZI2_uc003ced.2_Nonsense_Mutation_p.R51*|AZI2_uc003cee.3_Nonsense_Mutation_p.R51*|AZI2_uc003ceg.2_Nonsense_Mutation_p.R51*|AZI2_uc011axd.1_Nonsense_Mutation_p.R51*|AZI2_uc003cef.2_Nonsense_Mutation_p.R51*	1,1	1			p.R51*	NM_022461	NP_071906			1,1	AZI2_HUMAN	AZI2	HGNC	Q9H6S1	AZI2_HUMAN			C9JVK8_HUMAN,C9JGA2_HUMAN		2	683	-			UPI000006CE34	51			Potential.		SNV	AZI2,stop_gained,p.Arg51Ter,ENST00000479665,NM_022461.4,NM_001271650.1;AZI2,stop_gained,p.Arg51Ter,ENST00000420543,NM_001134432.1,NM_001134433.1;AZI2,stop_gained,p.Arg51Ter,ENST00000457172,;AZI2,stop_gained,p.Arg51Ter,ENST00000414162,;AZI2,stop_gained,p.Arg51Ter,ENST00000334100,;AZI2,stop_gained,p.Arg51Ter,ENST00000415852,;AZI2,non_coding_transcript_exon_variant,,ENST00000295748,;AZI2,non_coding_transcript_exon_variant,,ENST00000463512,;AZI2,upstream_gene_variant,,ENST00000488978,;AZI2,upstream_gene_variant,,ENST00000492044,;AZI2,upstream_gene_variant,,ENST00000462936,;	uc003ceb.2	c.151C>T	683/4706	5	2			c.151C>T						3	SNP	c.(151-153)CGA>TGA	46	46			ovary(2)	2	Broad	5-azacytidine induced 2 isoform a			28381958		0.338	ENSG00000163512	1211	g.chr3:28381958G>A		mitochondrion|plasma membrane								5.682438	KEEP	2	3	-1	19	9	2	3	-1	9.594786	19	9	0.133333	1	0	0	0	0	0	1	0	0	--	--		0	A			AZI2_uc003cec.2_Translation_Start_Site|AZI2_uc003ced.2_Nonsense_Mutation_p.R51*|AZI2_uc003cee.3_Nonsense_Mutation_p.R51*|AZI2_uc003ceg.2_Nonsense_Mutation_p.R51*|AZI2_uc011axd.1_Nonsense_Mutation_p.R51*|AZI2_uc003cef.2_Nonsense_Mutation_p.R51*	51	GBM-06-0216-TP	p.R51*	G	TCCTTAAGTCGTTTTTTGATG	NM_022461	NP_071906	28381958	Q9H6S1	AZI2_HUMAN	0			2	683	-	A	A			Nonsense_Mutation	51			Potential.			
B2M	567	broad.mit.edu	GRCh37	15	45007798	45007801	+	frameshift_variant	Frame_Shift_Del	DEL	TCTA	TCTA	-			TCGA-06-2567-01	TCGA-06-2567-01	TCTA	TCTA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000558401.1:c.248_251del	p.Tyr83SerfsTer19	p.Y83Sfs*19	ENST00000558401	NM_004048.2	82	tTCTAt/tt	0			1			-	FY/X	uc001zuc.2	protein_coding	YES	CCDS10113.1			245-248/360									ovary(2)|skin(1)	3	c.(244-249)TTCTATfs			PROSITE_profiles:PS50835,hmmpanther:PTHR19944,Gene3D:2.60.40.10,Pfam_domain:PF07654,SMART_domains:SM00407,Superfamily_domains:SSF48726	beta-2-microglobulin precursor				ENSP00000452780		4-Feb										4-Feb	.		ENST00000558401	Transcript	1		antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	ENSG00000166710	g.chr15:45007798_45007801delTCTA	914	3		HIGH								--	--	1																																		B2M_uc010uek.1_Frame_Shift_Del_p.F82fs|B2M_uc010bdx.1_Intron		1			p.F82fs	NM_004048	NP_004039				B2MG_HUMAN	B2M	HGNC	P61769	B2MG_HUMAN		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)	Q9UM88_HUMAN,H0YLF3_HUMAN,A6XND9_HUMAN		2	305_308	+		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	UPI000000D892	82_83			Ig-like C1-type.		deletion	B2M,frameshift_variant,p.Tyr83SerfsTer19,ENST00000558401,NM_004048.2;B2M,frameshift_variant,p.Tyr83SerfsTer19,ENST00000559916,;B2M,frameshift_variant,p.Tyr83SerfsTer19,ENST00000544417,;B2M,non_coding_transcript_exon_variant,,ENST00000559907,;B2M,intron_variant,,ENST00000559220,;PATL2,upstream_gene_variant,,ENST00000558573,;B2M,upstream_gene_variant,,ENST00000560556,;B2M,frameshift_variant,p.Tyr83SerfsTer19,ENST00000559720,;B2M,frameshift_variant,p.Ile39LeufsTer5,ENST00000349264,;B2M,frameshift_variant,p.Tyr35SerfsTer19,ENST00000561139,;B2M,frameshift_variant,p.Tyr83SerfsTer19,ENST00000561424,;B2M,3_prime_UTR_variant,,ENST00000557901,;B2M,non_coding_transcript_exon_variant,,ENST00000560681,;	uc001zuc.2	c.245_248delTCTA	315-318/1715	5	5			c.245_248delTCTA						15	DEL	c.(244-249)TTCTATfs	44	44			ovary(2)|skin(1)	3	Broad	beta-2-microglobulin precursor			45007801		0.436	ENSG00000166710	1214	g.chr15:45007798_45007801delTCTA	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding																				0.35	1	1	0	1	0	0	0	0	0	--	--		0	-			B2M_uc010uek.1_Frame_Shift_Del_p.F82fs|B2M_uc010bdx.1_Intron	89	GBM-06-2567-TP	p.F82fs	TCTA	GACTGGTCTTTCTATCTCTTGTAC	NM_004048	NP_004039	45007798	P61769	B2MG_HUMAN	0		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)	2	305_308	+	-	-		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	Frame_Shift_Del	82_83			Ig-like C1-type.			
B3GALNT1	0	broad.mit.edu	GRCh37	3	160803715	160803715	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-41-3393-01	TCGA-41-3393-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320474.4:c.828A>T	p.Leu276Phe	p.L276F	ENST00000320474	NM_003781.3	276	ttA/ttT	0			1			A	L/F	uc003fdv.2	protein_coding		CCDS3193.1			828/996									skin(1)	1	c.(826-828)TTA>TTT			hmmpanther:PTHR11214,hmmpanther:PTHR11214:SF17,Pfam_domain:PF01762	UDP-Gal:betaGlcNAc beta				ENSP00000323479		5-May									COSM3748217	5-May	.		ENST00000320474	Transcript	1		protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	ENSG00000169255	g.chr3:160803715T>A	918			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=B3GL1_HUMAN&rb=92&re=285&var=L276F	NA	getma.org/?cm=var&var=hg19,3,160803715,T,A&fts=all	L276F	--	--	1																																		B3GALNT1_uc003fdw.2_Missense_Mutation_p.L276F|B3GALNT1_uc003fdx.2_Missense_Mutation_p.L276F|B3GALNT1_uc003fdy.2_Missense_Mutation_p.L276F|B3GALNT1_uc003fdz.2_Missense_Mutation_p.L276F|B3GALNT1_uc003fea.2_Missense_Mutation_p.L276F|B3GALNT1_uc011bpa.1_Intron	1			possibly_damaging(0.773)	p.L276F	NM_033169	NP_149359		tolerated(0.05)	1	B3GL1_HUMAN	B3GALNT1	HGNC	O75752	B3GL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)		R4X604_HUMAN,Q8TDY1_HUMAN,Q8NHI0_HUMAN,Q6RC01_HUMAN,Q6RBZ9_HUMAN,E7EVS2_HUMAN,C9JXR0_HUMAN,C9JRV6_HUMAN,C9JD16_HUMAN,C9J8U7_HUMAN,C9J0F8_HUMAN		5	1247	-			UPI000000DC24	276			Lumenal (Potential).		SNV	B3GALNT1,missense_variant,p.Leu276Phe,ENST00000392781,NM_001038628.1;B3GALNT1,missense_variant,p.Leu276Phe,ENST00000392780,NM_033167.2;B3GALNT1,missense_variant,p.Leu276Phe,ENST00000320474,NM_003781.3,NM_033169.2;B3GALNT1,missense_variant,p.Leu276Phe,ENST00000392779,NM_033168.2;B3GALNT1,missense_variant,p.Leu276Phe,ENST00000473285,;B3GALNT1,missense_variant,p.Leu276Phe,ENST00000488170,;B3GALNT1,intron_variant,,ENST00000417187,;B3GALNT1,downstream_gene_variant,,ENST00000468268,;B3GALNT1,downstream_gene_variant,,ENST00000494173,;B3GALNT1,downstream_gene_variant,,ENST00000492353,;B3GALNT1,downstream_gene_variant,,ENST00000460353,;B3GALNT1,downstream_gene_variant,,ENST00000473142,;B3GALNT1,downstream_gene_variant,,ENST00000484127,;B3GALNT1,downstream_gene_variant,,ENST00000498216,;B3GALNT1,downstream_gene_variant,,ENST00000476999,;B3GALNT1,downstream_gene_variant,,ENST00000478383,;B3GALNT1,downstream_gene_variant,,ENST00000496295,;	uc003fdv.2	c.828A>T	1226/3270	1	1			c.828A>T						3	SNP	c.(826-828)TTA>TTT	62	62			skin(1)	1	Broad	UDP-Gal:betaGlcNAc beta			160803715		0.363	ENSG00000169255	1215	g.chr3:160803715T>A	protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity							-11.44021	KEEP	2	1	-1	33	42	2	1	-1	6.512115	33	42	0.038462	1	0	0	0	0	1	0	0	0	--	--		0	A			B3GALNT1_uc003fdw.2_Missense_Mutation_p.L276F|B3GALNT1_uc003fdx.2_Missense_Mutation_p.L276F|B3GALNT1_uc003fdy.2_Missense_Mutation_p.L276F|B3GALNT1_uc003fdz.2_Missense_Mutation_p.L276F|B3GALNT1_uc003fea.2_Missense_Mutation_p.L276F|B3GALNT1_uc011bpa.1_Intron	255	GBM-41-3393-TP	p.L276F	T	TCACTTTTAATAAATTCAAAC	NM_033169	NP_149359	160803715	O75752	B3GL1_HUMAN	0	LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)		5	1247	-	A	A			Missense_Mutation	276			Lumenal (Potential).			
B3GAT1	27087		GRCh37	11	134253884	134253884	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000524765.1:c.311G>A	p.Arg104His	p.R104H	ENST00000524765		104	cGc/cAc	0																																																																																																																																																																																																																																												
B3GNT3	0	broad.mit.edu	GRCh37	19	17918748	17918748	+	synonymous_variant	Silent	SNP	C	C	T	rs79614823	byFrequency	TCGA-12-3649-01	TCGA-12-3649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318683.6:c.132C>T	p.Pro44=	p.P44=	ENST00000318683	NM_014256.3	44	ccC/ccT	0	T:0.02	T:0.0242	1	T:0.0014		T	P	uc002nhk.1	protein_coding	YES	CCDS12364.1			132/1119									upper_aerodigestive_tract(1)	1	c.(130-132)CCC>CCT				UDP-GlcNAc:betaGal		T:0	T:0.0003	ENSP00000321874	T:0	3-Feb	0.0019	0.0205	0.00114			0.000316	0.00116		rs79614823,COSM3403929	3-Feb	common_variant		ENST00000318683	Transcript		T:0.0066	protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	ENSG00000179913	g.chr19:17918748C>T	13528			LOW								--	--	1																																		B3GNT3_uc002nhl.1_Silent_p.P44P|B3GNT3_uc010ebd.1_Silent_p.P44P|B3GNT3_uc010ebe.1_Silent_p.P44P	0,1	1			p.P44P	NM_014256	NP_055071	T:0		0,1	B3GN3_HUMAN	B3GNT3	HGNC	Q9Y2A9	B3GN3_HUMAN			M0R199_HUMAN,M0QX58_HUMAN		2	217	+			UPI000007021E	44			Lumenal (Potential).		SNV	B3GNT3,synonymous_variant,p.=,ENST00000318683,NM_014256.3;B3GNT3,synonymous_variant,p.=,ENST00000595387,;B3GNT3,synonymous_variant,p.=,ENST00000599265,;B3GNT3,synonymous_variant,p.=,ENST00000600777,;	uc002nhk.1	c.132C>T	279/2226	2	2			c.132C>T						19	SNP	c.(130-132)CCC>CCT	47	47			upper_aerodigestive_tract(1)	1	Broad	UDP-GlcNAc:betaGal			17918748		0.687	ENSG00000179913	1227	g.chr19:17918748C>T	protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity							43.909516	KEEP	6	13	-1	11	29	6	13	-1	45.410652	11	29	0.3125	1	0	0	0	0	0	0	1	0	--	--		0	T			B3GNT3_uc002nhl.1_Silent_p.P44P|B3GNT3_uc010ebd.1_Silent_p.P44P|B3GNT3_uc010ebe.1_Silent_p.P44P	125	GBM-12-3649-TP	p.P44P	C	CGGCGATCCCCGAGGCCCTGG	NM_014256	NP_055071	17918748	Q9Y2A9	B3GN3_HUMAN	0			2	217	+	T	T			Silent	44			Lumenal (Potential).			
B3GNT3	0	broad.mit.edu	GRCh37	19	17919127	17919127	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01	TCGA-19-2631-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318683.6:c.511G>A	p.Gly171Arg	p.G171R	ENST00000318683	NM_014256.3	171	Gga/Aga	0			1			A	G/R	uc002nhk.1	protein_coding	YES	CCDS12364.1			511/1119									upper_aerodigestive_tract(1)	1	c.(511-513)GGA>AGA			Pfam_domain:PF01762,hmmpanther:PTHR11214,hmmpanther:PTHR11214:SF23	UDP-GlcNAc:betaGal				ENSP00000321874		3-Feb									COSM2156382	3-Feb	.		ENST00000318683	Transcript			protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	ENSG00000179913	g.chr19:17919127G>A	13528			MODERATE		1.26	low	getma.org/?cm=msa&ty=f&p=B3GN3_HUMAN&rb=121&re=315&var=G171R	NA	getma.org/?cm=var&var=hg19,19,17919127,G,A&fts=all	G171R	--	--	1																																		B3GNT3_uc002nhl.1_Missense_Mutation_p.G171R|B3GNT3_uc010ebd.1_Missense_Mutation_p.G171R|B3GNT3_uc010ebe.1_Missense_Mutation_p.G171R	1	1		benign(0.391)	p.G171R	NM_014256	NP_055071		tolerated(0.26)	1	B3GN3_HUMAN	B3GNT3	HGNC	Q9Y2A9	B3GN3_HUMAN			M0R199_HUMAN,M0QX58_HUMAN		2	596	+			UPI000007021E	171			Lumenal (Potential).		SNV	B3GNT3,missense_variant,p.Gly171Arg,ENST00000318683,NM_014256.3;B3GNT3,missense_variant,p.Gly171Arg,ENST00000595387,;B3GNT3,missense_variant,p.Gly171Arg,ENST00000599265,;B3GNT3,downstream_gene_variant,,ENST00000600777,;	uc002nhk.1	c.511G>A	658/2226	2	2			c.511G>A						19	SNP	c.(511-513)GGA>AGA	36	36			upper_aerodigestive_tract(1)	1	Broad	UDP-GlcNAc:betaGal			17919127		0.637	ENSG00000179913	1227	g.chr19:17919127G>A	protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity							108.325449	KEEP	14	25	-1	29	34	14	25	-1	109.124188	29	34	0.397727	1	0	0	0	0	1	0	0	0	--	--		0	A			B3GNT3_uc002nhl.1_Missense_Mutation_p.G171R|B3GNT3_uc010ebd.1_Missense_Mutation_p.G171R|B3GNT3_uc010ebe.1_Missense_Mutation_p.G171R	167	GBM-19-2631-TP	p.G171R	G	ACAGACTCACGGAGACATCCT	NM_014256	NP_055071	17919127	Q9Y2A9	B3GN3_HUMAN	0			2	596	+	A	A			Missense_Mutation	171			Lumenal (Potential).			
B3GNT3	0	broad.mit.edu	GRCh37	19	17922705	17922705	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-5207-01	TCGA-28-5207-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318683.6:c.893T>C	p.Val298Ala	p.V298A	ENST00000318683	NM_014256.3	298	gTc/gCc	0			1			C	V/A	uc002nhk.1	protein_coding	YES	CCDS12364.1			893/1119									upper_aerodigestive_tract(1)	1	c.(892-894)GTC>GCC			Pfam_domain:PF01762,hmmpanther:PTHR11214,hmmpanther:PTHR11214:SF23	UDP-GlcNAc:betaGal				ENSP00000321874		3-Mar									COSM3403932	3-Mar	.		ENST00000318683	Transcript			protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	ENSG00000179913	g.chr19:17922705T>C	13528			MODERATE		1.57	low	getma.org/?cm=msa&ty=f&p=B3GN3_HUMAN&rb=121&re=315&var=V298A	NA	getma.org/?cm=var&var=hg19,19,17922705,T,C&fts=all	V298A	--	--	1																																		B3GNT3_uc002nhl.1_Missense_Mutation_p.V298A|B3GNT3_uc010ebd.1_Missense_Mutation_p.V298A|B3GNT3_uc010ebe.1_Missense_Mutation_p.V298A	1	1		possibly_damaging(0.87)	p.V298A	NM_014256	NP_055071		deleterious(0.05)	1	B3GN3_HUMAN	B3GNT3	HGNC	Q9Y2A9	B3GN3_HUMAN			M0R199_HUMAN,M0QX58_HUMAN		3	978	+			UPI000007021E	298			Lumenal (Potential).		SNV	B3GNT3,missense_variant,p.Val298Ala,ENST00000318683,NM_014256.3;B3GNT3,missense_variant,p.Val298Ala,ENST00000595387,;INSL3,downstream_gene_variant,,ENST00000379695,NM_001265587.1;B3GNT3,downstream_gene_variant,,ENST00000599265,;INSL3,downstream_gene_variant,,ENST00000598577,;INSL3,downstream_gene_variant,,ENST00000317306,NM_005543.3;B3GNT3,downstream_gene_variant,,ENST00000600777,;	uc002nhk.1	c.893T>C	1040/2226	4	4			c.893T>C						19	SNP	c.(892-894)GTC>GCC	39	39			upper_aerodigestive_tract(1)	1	Broad	UDP-GlcNAc:betaGal			17922705		0.632	ENSG00000179913	1227	g.chr19:17922705T>C	protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity							26.618404	KEEP	14	19	-1	159	156	14	19	-1	81.493298	159	156	0.091743	1	0	0	0	0	1	0	0	0	--	--		0	C			B3GNT3_uc002nhl.1_Missense_Mutation_p.V298A|B3GNT3_uc010ebd.1_Missense_Mutation_p.V298A|B3GNT3_uc010ebe.1_Missense_Mutation_p.V298A	216	GBM-28-5207-TP	p.V298A	T	ATTGATGATGTCTTCCTGGGT	NM_014256	NP_055071	17922705	Q9Y2A9	B3GN3_HUMAN	0			3	978	+	C	C			Missense_Mutation	298			Lumenal (Potential).			
B3GNT7	93010	broad.mit.edu	GRCh37	2	232262645	232262645	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000287590.5:c.215C>T	p.Thr72Met	p.T72M	ENST00000287590	NM_145236.2	72	aCg/aTg	0	T:0	T:0	1	T:0		T	T/M	uc002vrs.2	protein_coding	YES	CCDS46540.1			215/1206										0	c.(214-216)ACG>ATG			hmmpanther:PTHR11214,hmmpanther:PTHR11214:SF93	UDP-GlcNAc:betaGal		T:0	T:0.0004	ENSP00000287590	T:0.002	2-Feb	0.00125	0.000104	0.000261			0.000776	0.00113	0.00576	rs199641918	2-Feb	common_variant		ENST00000287590	Transcript		T:0.0010	protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	ENSG00000156966	g.chr2:232262645C>T	18811			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=B3GN7_HUMAN&rb=1&re=147&var=T72M	NA	getma.org/?cm=var&var=hg19,2,232262645,C,T&fts=all	T72M	--	--	1																																				1		benign(0.013)	p.T72M	NM_145236	NP_660279	T:0.0031	tolerated(0.12)		B3GN7_HUMAN	B3GNT7	HGNC	Q8NFL0	B3GN7_HUMAN		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)			2	395	+		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	UPI000006D18A	72			Lumenal (Potential).		SNV	B3GNT7,missense_variant,p.Thr72Met,ENST00000287590,NM_145236.2;AC017104.6,downstream_gene_variant,,ENST00000415129,;AC017104.6,downstream_gene_variant,,ENST00000454416,;B3GNT7,non_coding_transcript_exon_variant,,ENST00000479618,;AC017104.6,downstream_gene_variant,,ENST00000418050,;	uc002vrs.2	c.215C>T	476/3706	2	2			c.215C>T						2	SNP	c.(214-216)ACG>ATG	26	26				0	Broad	UDP-GlcNAc:betaGal			232262645		0.617	ENSG00000156966	1231	g.chr2:232262645C>T	protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity							44.290055	KEEP	7	11	-1	18	14	7	11	-1	44.907491	18	14	0.372093	1	0	0	0	0	1	0	0	0	--	--		0	T				18	GBM-06-0137-TP	p.T72M	C	GCTGCGCCCACGCCCATGGCC	NM_145236	NP_660279	232262645	Q8NFL0	B3GN7_HUMAN	0		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)	2	395	+	T	T		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	Missense_Mutation	72			Lumenal (Potential).			
B3GNT8	374907	broad.mit.edu	GRCh37	19	41932546	41932546	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0213-01	TCGA-06-0213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321702.2:c.138G>A	p.Thr46=	p.T46=	ENST00000321702	NM_198540.2	46	acG/acA	0			1			T	T	uc002oqs.2	protein_coding	YES	CCDS12582.1			138/1194										0	c.(136-138)ACG>ACA			Low_complexity_(Seg):seg,hmmpanther:PTHR11214,hmmpanther:PTHR11214:SF87	UDP-GlcNAc:betaGal				ENSP00000312700		3-Mar	8.24E-06					1.62E-05			rs777773985,COSM2150873	3-Mar	.		ENST00000321702	Transcript			poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity	ENSG00000177191	g.chr19:41932546C>T	24139			LOW								--	--	1																																		CYP2F1_uc010xvw.1_Intron|B3GNT8_uc002oqt.1_Intron	0,1	1			p.T46T	NM_198540	NP_940942			0,1	B3GN8_HUMAN	B3GNT8	HGNC	Q7Z7M8	B3GN8_HUMAN					3	592	-			UPI0000140C01	46			Lumenal (Potential).		SNV	B3GNT8,synonymous_variant,p.=,ENST00000321702,NM_198540.2;BCKDHA,downstream_gene_variant,,ENST00000269980,NM_000709.3,NM_001164783.1;CTC-435M10.3,downstream_gene_variant,,ENST00000540732,;BCKDHA,downstream_gene_variant,,ENST00000595085,;BCKDHA,downstream_gene_variant,,ENST00000457836,;ATP5SL,downstream_gene_variant,,ENST00000221943,NM_018035.2;ATP5SL,downstream_gene_variant,,ENST00000592922,NM_001167871.1;ATP5SL,downstream_gene_variant,,ENST00000438807,NM_001167870.1;BCKDHA,downstream_gene_variant,,ENST00000542943,;BCKDHA,downstream_gene_variant,,ENST00000541315,;BCKDHA,downstream_gene_variant,,ENST00000544905,;CTC-435M10.6,downstream_gene_variant,,ENST00000598887,;B3GNT8,intron_variant,,ENST00000601379,;B3GNT8,intron_variant,,ENST00000601616,;BCKDHA,downstream_gene_variant,,ENST00000535632,;ATP5SL,downstream_gene_variant,,ENST00000589503,;BCKDHA,downstream_gene_variant,,ENST00000538423,;BCKDHA,downstream_gene_variant,,ENST00000545787,;	uc002oqs.2	c.138G>A	592/1874	2	2			c.138G>A						19	SNP	c.(136-138)ACG>ACA	24	24				0	Broad	UDP-GlcNAc:betaGal			41932546		0.662	ENSG00000177191	1232	g.chr19:41932546C>T	poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity							13.853337	KEEP	4	8	-1	18	11	4	8	-1	14.562003	18	11	0.3	1	0	0	0	0	0	0	1	0	--	--		0	T			CYP2F1_uc010xvw.1_Intron|B3GNT8_uc002oqt.1_Intron	49	GBM-06-0213-TP	p.T46T	C	GGTTGGCTGGCGTGGGGCTTG	NM_198540	NP_940942	41932546	Q7Z7M8	B3GN8_HUMAN	0			3	592	-	T	T			Silent	46			Lumenal (Potential).			
B3GNT8	0	broad.mit.edu	GRCh37	19	41932065	41932066	+	stop_gained,frameshift_variant	Nonsense_Mutation	DEL	TG	TG	-			TCGA-27-1833-01	TCGA-27-1833-01	TG	TG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321702.2:c.618_619delCA	p.Tyr206Ter	p.Y206*	ENST00000321702	NM_198540.2	206	taCAgt/tagt	0			1			-	YS/*	uc002oqs.2	protein_coding	YES	CCDS12582.1			618-619/1194										0	c.(616-621)TACAGTfs			Pfam_domain:PF01762,hmmpanther:PTHR11214,hmmpanther:PTHR11214:SF87	UDP-GlcNAc:betaGal				ENSP00000312700		3-Mar										3-Mar	.		ENST00000321702	Transcript			poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity	ENSG00000177191	g.chr19:41932065_41932066delTG	24139			HIGH								--	--	1																																		CYP2F1_uc010xvw.1_Intron|B3GNT8_uc002oqt.1_Intron		1			p.Y206fs	NM_198540	NP_940942				B3GN8_HUMAN	B3GNT8	HGNC	Q7Z7M8	B3GN8_HUMAN					3	1072_1073	-			UPI0000140C01	206_207			Lumenal (Potential).		deletion	B3GNT8,stop_gained,p.Tyr206Ter,ENST00000321702,NM_198540.2;BCKDHA,downstream_gene_variant,,ENST00000269980,NM_000709.3,NM_001164783.1;CTC-435M10.3,downstream_gene_variant,,ENST00000540732,;BCKDHA,downstream_gene_variant,,ENST00000595085,;BCKDHA,downstream_gene_variant,,ENST00000457836,;BCKDHA,downstream_gene_variant,,ENST00000542943,;BCKDHA,downstream_gene_variant,,ENST00000541315,;BCKDHA,downstream_gene_variant,,ENST00000544905,;CTC-435M10.6,non_coding_transcript_exon_variant,,ENST00000598887,;B3GNT8,non_coding_transcript_exon_variant,,ENST00000601379,;B3GNT8,intron_variant,,ENST00000601616,;BCKDHA,downstream_gene_variant,,ENST00000535632,;BCKDHA,downstream_gene_variant,,ENST00000538423,;BCKDHA,downstream_gene_variant,,ENST00000545787,;	uc002oqs.2	c.618_619delCA	1072-1073/1874	5	5			c.618_619delCA						19	DEL	c.(616-621)TACAGTfs	37	37				0	Broad	UDP-GlcNAc:betaGal			41932066		0.653	ENSG00000177191	1232	g.chr19:41932065_41932066delTG	poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity																				0.25	1	1	0	1	0	0	0	0	0	--	--		0	-			CYP2F1_uc010xvw.1_Intron|B3GNT8_uc002oqt.1_Intron	192	GBM-27-1833-TP	p.Y206fs	TG	AGCAGGTCACTGTAGCGACGGC	NM_198540	NP_940942	41932065	Q7Z7M8	B3GN8_HUMAN	0			3	1072_1073	-	-	-			Frame_Shift_Del	206_207			Lumenal (Potential).			
B3GNT9	0	broad.mit.edu	GRCh37	16	67183810	67183810	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-32-1991-01	TCGA-32-1991-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449549.3:c.579G>T	p.Leu193=	p.L193=	ENST00000449549	NM_033309.2	193	ctG/ctT	0			1			A	L	uc002erf.2	protein_coding	YES	CCDS45509.1			579/1209										0	c.(577-579)CTG>CTT			Pfam_domain:PF01762,hmmpanther:PTHR11214,hmmpanther:PTHR11214:SF91	UDP-GlcNAc:betaGal				ENSP00000400157		2-Feb									COSM3402409	2-Feb	.		ENST00000449549	Transcript			protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	ENSG00000237172	g.chr16:67183810C>A	28714			LOW								--	--	1																																		uc002erg.1_Missense_Mutation_p.S71R	1	1			p.L193L	NM_033309	NP_171608			1	B3GN9_HUMAN	B3GNT9	HGNC	Q6UX72	B3GN9_HUMAN					2	900	-			UPI000004B630	193			Lumenal (Potential).		SNV	B3GNT9,synonymous_variant,p.=,ENST00000449549,NM_033309.2;C16orf70,downstream_gene_variant,,ENST00000219139,NM_025187.3;TRADD,downstream_gene_variant,,ENST00000345057,NM_003789.3;TRADD,downstream_gene_variant,,ENST00000486556,;C16orf70,downstream_gene_variant,,ENST00000569600,;C16orf70,downstream_gene_variant,,ENST00000569277,;TRADD,downstream_gene_variant,,ENST00000566247,;	uc002erf.2	c.579G>T	1115/2917	2	2			c.579G>T						16	SNP	c.(577-579)CTG>CTT	47	47				0	Broad	UDP-GlcNAc:betaGal			67183810		0.642	ENSG00000237172	1233	g.chr16:67183810C>A	protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity							2.300598	KEEP	2	2	0.5	13	18	2	2	0.5	7.09728	13	18	0.1	1	0	0	0	0	0	0	1	0	--	--		0	A			uc002erg.1_Missense_Mutation_p.S71R	234	GBM-32-1991-TP	p.L193L	C	AGGCCCAGAGCAGGATGTCCG	NM_033309	NP_171608	67183810	Q6UX72	B3GN9_HUMAN	0			2	900	-	A	A			Silent	193			Lumenal (Potential).			
B3GNT9	0	broad.mit.edu	GRCh37	16	67184087	67184087	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-32-1991-01	TCGA-32-1991-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449549.3:c.302A>C	p.Asn101Thr	p.N101T	ENST00000449549	NM_033309.2	101	aAc/aCc	0			1			G	N/T	uc002erf.2	protein_coding	YES	CCDS45509.1			302/1209										0	c.(301-303)AAC>ACC			hmmpanther:PTHR11214,hmmpanther:PTHR11214:SF91	UDP-GlcNAc:betaGal				ENSP00000400157		2-Feb	0.000285	0.000773		0.000214	0.00183	0.000319			rs201858011,COSM3748001	2-Feb	common_variant		ENST00000449549	Transcript			protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	ENSG00000237172	g.chr16:67184087T>G	28714			MODERATE		2.02	medium	getma.org/?cm=msa&ty=f&p=B3GN9_HUMAN&rb=1&re=129&var=N101T	NA	getma.org/?cm=var&var=hg19,16,67184087,T,G&fts=all	N101T	--	--	1																																		uc002erg.1_Missense_Mutation_p.L164V	0,1	1		probably_damaging(0.94)	p.N101T	NM_033309	NP_171608		deleterious(0)	0,1	B3GN9_HUMAN	B3GNT9	HGNC	Q6UX72	B3GN9_HUMAN					2	623	-			UPI000004B630	101			Lumenal (Potential).		SNV	B3GNT9,missense_variant,p.Asn101Thr,ENST00000449549,NM_033309.2;C16orf70,downstream_gene_variant,,ENST00000219139,NM_025187.3;TRADD,downstream_gene_variant,,ENST00000345057,NM_003789.3;TRADD,downstream_gene_variant,,ENST00000486556,;C16orf70,downstream_gene_variant,,ENST00000569600,;C16orf70,downstream_gene_variant,,ENST00000569277,;TRADD,downstream_gene_variant,,ENST00000566247,;	uc002erf.2	c.302A>C	838/2917	3	3			c.302A>C						16	SNP	c.(301-303)AAC>ACC	57	57				0	Broad	UDP-GlcNAc:betaGal			67184087		0.672	ENSG00000237172	1233	g.chr16:67184087T>G	protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity							6.737685	KEEP	3	12	-1	5	3	3	12	-1	7.012971	5	3	0.8	1	0	0	0	0	1	0	0	0	--	--		0	G			uc002erg.1_Missense_Mutation_p.L164V	234	GBM-32-1991-TP	p.N101T	T	GTGCGGCTGGTTAATGAGCAG	NM_033309	NP_171608	67184087	Q6UX72	B3GN9_HUMAN	0			2	623	-	G	G			Missense_Mutation	101			Lumenal (Potential).			
B4GALNT1	0	broad.mit.edu	GRCh37	12	58022670	58022670	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341156.4:c.828C>T	p.Ser276=	p.S276=	ENST00000341156	NM_001478.4	276	agC/agT	0			1			A	S	uc001spg.1	protein_coding	YES	CCDS8950.1			828/1602										0	c.(826-828)AGC>AGT			hmmpanther:PTHR15046,hmmpanther:PTHR15046:SF1,PIRSF_domain:PIRSF000474	beta-1,4-N-acetyl-galactosaminyl transferase 1				ENSP00000341562		11-Aug									rs750756456,COSM3398941	11-Aug	.		ENST00000341156	Transcript	1		lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	ENSG00000135454	g.chr12:58022670G>A	4117			LOW								--	--	1																																		B4GALNT1_uc010sru.1_Silent_p.S221S|B4GALNT1_uc010srv.1_Silent_p.S243S	0,1	1			p.S276S	NM_001478	NP_001469			0,1	B4GN1_HUMAN	B4GALNT1	HGNC	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		F8VW33_HUMAN,F8VU35_HUMAN,F8VR44_HUMAN,F8TDK4_HUMAN		8	1260	-	Melanoma(17;0.122)		UPI0000126DD5	276			Lumenal (Potential).		SNV	B4GALNT1,synonymous_variant,p.=,ENST00000341156,NM_001478.4;B4GALNT1,synonymous_variant,p.=,ENST00000418555,NM_001276468.1;B4GALNT1,synonymous_variant,p.=,ENST00000449184,;SLC26A10,downstream_gene_variant,,ENST00000379218,;SLC26A10,downstream_gene_variant,,ENST00000320442,NM_133489.2;B4GALNT1,downstream_gene_variant,,ENST00000550764,NM_001276469.1;B4GALNT1,downstream_gene_variant,,ENST00000552350,;B4GALNT1,downstream_gene_variant,,ENST00000548888,;B4GALNT1,downstream_gene_variant,,ENST00000551220,;B4GALNT1,upstream_gene_variant,,ENST00000547741,;SLC26A10,downstream_gene_variant,,ENST00000490243,;SLC26A10,downstream_gene_variant,,ENST00000483647,;B4GALNT1,downstream_gene_variant,,ENST00000550943,;B4GALNT1,3_prime_UTR_variant,,ENST00000552798,;B4GALNT1,3_prime_UTR_variant,,ENST00000549391,;B4GALNT1,non_coding_transcript_exon_variant,,ENST00000553142,;B4GALNT1,non_coding_transcript_exon_variant,,ENST00000552468,;SLC26A10,downstream_gene_variant,,ENST00000474359,;SLC26A10,downstream_gene_variant,,ENST00000440686,;SLC26A10,downstream_gene_variant,,ENST00000487816,;B4GALNT1,downstream_gene_variant,,ENST00000551925,;SLC26A10,downstream_gene_variant,,ENST00000474791,;B4GALNT1,downstream_gene_variant,,ENST00000548487,;B4GALNT1,downstream_gene_variant,,ENST00000552219,;	uc001spg.1	c.828C>T	1413/3036	1	1			c.828C>T						12	SNP	c.(826-828)AGC>AGT	49	49				0	Broad	beta-1,4-N-acetyl-galactosaminyl transferase 1			58022670		0.577	ENSG00000135454	1235	g.chr12:58022670G>A	lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity							71.993214	KEEP	18	11	-1	36	24	18	11	-1	74.242553	36	24	0.325301	1	0	0	0	0	0	0	1	0	--	--		0	A			B4GALNT1_uc010sru.1_Silent_p.S221S|B4GALNT1_uc010srv.1_Silent_p.S243S	162	GBM-19-2620-TP	p.S276S	G	TGACTAGAGCGCTGATGTTGT	NM_001478	NP_001469	58022670	Q00973	B4GN1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(9;0.109)		8	1260	-	A	A	Melanoma(17;0.122)		Silent	276			Lumenal (Potential).			
B4GALNT1	0	broad.mit.edu	GRCh37	12	58020574	58020574	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01	TCGA-41-3392-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341156.4:c.1555C>T	p.Arg519Trp	p.R519W	ENST00000341156	NM_001478.4	519	Cgg/Tgg	0			1			A	R/W	uc001spg.1	protein_coding	YES	CCDS8950.1			1555/1602										0	c.(1555-1557)CGG>TGG			hmmpanther:PTHR15046,hmmpanther:PTHR15046:SF1,PIRSF_domain:PIRSF000474	beta-1,4-N-acetyl-galactosaminyl transferase 1				ENSP00000341562		11-Nov									COSM3398940	11-Nov	.		ENST00000341156	Transcript	1		lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	ENSG00000135454	g.chr12:58020574G>A	4117			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=B4GN1_HUMAN&rb=450&re=533&var=R519W	NA	getma.org/?cm=var&var=hg19,12,58020574,G,A&fts=all	R519W	--	--	1																																		B4GALNT1_uc010sru.1_Missense_Mutation_p.R464W	1	1		possibly_damaging(0.846)	p.R519W	NM_001478	NP_001469		deleterious(0.02)	1	B4GN1_HUMAN	B4GALNT1	HGNC	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		F8VW33_HUMAN,F8VU35_HUMAN,F8VR44_HUMAN,F8TDK4_HUMAN		11	1987	-	Melanoma(17;0.122)		UPI0000126DD5	519			Lumenal (Potential).		SNV	B4GALNT1,missense_variant,p.Arg519Trp,ENST00000341156,NM_001478.4;B4GALNT1,missense_variant,p.Arg464Trp,ENST00000418555,NM_001276468.1;SLC26A10,downstream_gene_variant,,ENST00000379218,;SLC26A10,downstream_gene_variant,,ENST00000320442,NM_133489.2;B4GALNT1,downstream_gene_variant,,ENST00000550764,NM_001276469.1;B4GALNT1,downstream_gene_variant,,ENST00000552350,;B4GALNT1,downstream_gene_variant,,ENST00000449184,;B4GALNT1,downstream_gene_variant,,ENST00000548888,;B4GALNT1,downstream_gene_variant,,ENST00000551220,;B4GALNT1,downstream_gene_variant,,ENST00000547741,;SLC26A10,downstream_gene_variant,,ENST00000490243,;SLC26A10,downstream_gene_variant,,ENST00000483647,;B4GALNT1,downstream_gene_variant,,ENST00000550943,;B4GALNT1,3_prime_UTR_variant,,ENST00000552798,;B4GALNT1,non_coding_transcript_exon_variant,,ENST00000553142,;B4GALNT1,non_coding_transcript_exon_variant,,ENST00000552468,;SLC26A10,downstream_gene_variant,,ENST00000474359,;SLC26A10,downstream_gene_variant,,ENST00000440686,;SLC26A10,downstream_gene_variant,,ENST00000487816,;B4GALNT1,downstream_gene_variant,,ENST00000551925,;B4GALNT1,downstream_gene_variant,,ENST00000549391,;SLC26A10,downstream_gene_variant,,ENST00000474791,;SLC26A10,downstream_gene_variant,,ENST00000463802,;B4GALNT1,downstream_gene_variant,,ENST00000548487,;B4GALNT1,downstream_gene_variant,,ENST00000552219,;	uc001spg.1	c.1555C>T	2140/3036	2	2			c.1555C>T						12	SNP	c.(1555-1557)CGG>TGG	17	17				0	Broad	beta-1,4-N-acetyl-galactosaminyl transferase 1			58020574		0.597	ENSG00000135454	1235	g.chr12:58020574G>A	lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity							158.384174	KEEP	36	56	-1	82	64	36	56	-1	161.308057	82	64	0.349315	1	0	0	0	0	1	0	0	0	--	--		0	A			B4GALNT1_uc010sru.1_Missense_Mutation_p.R464W	254	GBM-41-3392-TP	p.R519W	G	AAGAGCAGCCGGTGTTTGGCC	NM_001478	NP_001469	58020574	Q00973	B4GN1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(9;0.109)		11	1987	-	A	A	Melanoma(17;0.122)		Missense_Mutation	519			Lumenal (Potential).			
B4GALNT2	124872	broad.mit.edu	GRCh37	17	47246247	47246247	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs112740954	byFrequency;by1000genomes	TCGA-06-0145-01	TCGA-06-0145-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300404.2:c.1480C>T	p.Arg494Ter	p.R494*	ENST00000300404	NM_153446.2	494	Cga/Tga	0	T:0.0136	T:0.0166	1	T:0.0014		T	R/*	uc002ion.2	protein_coding	YES	CCDS11544.1			1480/1701									large_intestine(1)|ovary(1)	2	c.(1480-1482)CGA>TGA			hmmpanther:PTHR15046:SF2,hmmpanther:PTHR15046,PIRSF_domain:PIRSF000474,Superfamily_domains:SSF53448	beta-1,4-N-acetyl-galactosaminyl transferase 2		T:0	T:0.0009	ENSP00000300404	T:0	11-Oct	0.00192	0.0158	0.00112			0.00107		6.64E-05	rs112740954,COSM2149758	11-Oct	common_variant		ENST00000300404	Transcript		T:0.0046	lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	ENSG00000167080	g.chr17:47246247C>T	24136			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,17,47246247,C,T&fts=all	R494*	--	--	1																																		B4GALNT2_uc010wlt.1_Nonsense_Mutation_p.R408*|B4GALNT2_uc010wlu.1_Nonsense_Mutation_p.R434*	0,1	1			p.R494*	NM_153446	NP_703147	T:0		0,1	B4GN2_HUMAN	B4GALNT2	HGNC	Q8NHY0	B4GN2_HUMAN	all cancers(6;0.000316)		Q8IVI2_HUMAN		10	1539	+			UPI000013E655	494			Lumenal (Potential).		SNV	B4GALNT2,stop_gained,p.Arg494Ter,ENST00000300404,NM_153446.2;B4GALNT2,stop_gained,p.Arg408Ter,ENST00000504681,NM_001159388.1;B4GALNT2,stop_gained,p.Arg434Ter,ENST00000393354,NM_001159387.1;RP11-708H21.4,upstream_gene_variant,,ENST00000575159,;	uc002ion.2	c.1480C>T	1539/1906	5	1			c.1480C>T						17	SNP	c.(1480-1482)CGA>TGA	13	13			large_intestine(1)|ovary(1)	2	Broad	beta-1,4-N-acetyl-galactosaminyl transferase 2			47246247		0.592	ENSG00000167080	1236	g.chr17:47246247C>T	lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	GBM(124;244 1635 8663 18097 33175)			GBM(124;244 1635 8663 18097 33175)			28.3421	KEEP	7	3	-1	16	6	7	3	-1	29.079069	16	6	0.333333	1	0	0	0	0	0	1	0	0	--	--		0	T			B4GALNT2_uc010wlt.1_Nonsense_Mutation_p.R408*|B4GALNT2_uc010wlu.1_Nonsense_Mutation_p.R434*	23	GBM-06-0145-TP	p.R494*	C	CCGCCTGCAACGAGTGGCTCA	NM_153446	NP_703147	47246247	Q8NHY0	B4GN2_HUMAN	0	all cancers(6;0.000316)		10	1539	+	T	T			Nonsense_Mutation	494			Lumenal (Potential).			
B4GALNT3	283358	broad.mit.edu	GRCh37	12	657400	657400	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0644-01	TCGA-06-0644-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266383.5:c.790C>T	p.Arg264Ter	p.R264*	ENST00000266383	NM_173593.3	264	Cga/Tga	0			1			T	R/*	uc001qii.1	protein_coding	YES	CCDS8504.1			790/2997									ovary(1)|skin(1)	2	c.(790-792)CGA>TGA			Gene3D:1accA01,Pfam_domain:PF07691,hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF15,SMART_domains:SM00758	beta				ENSP00000266383		20-Sep	8.24E-06					1.50E-05			rs780455486,COSM2151231	20-Sep	.		ENST00000266383	Transcript				Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	ENSG00000139044	g.chr12:657400C>T	24137			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,12,657400,C,T&fts=all	R264*	--	--	1																																		B4GALNT3_uc001qij.1_Nonsense_Mutation_p.R166*	0,1	1			p.R264*	NM_173593	NP_775864			0,1	B4GN3_HUMAN	B4GALNT3	HGNC	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)				9	790	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		UPI0000366851	264			Lumenal (Potential).		SNV	B4GALNT3,stop_gained,p.Arg264Ter,ENST00000266383,NM_173593.3;B4GALNT3,stop_gained,p.Arg166Ter,ENST00000322843,;B4GALNT3,non_coding_transcript_exon_variant,,ENST00000544638,;B4GALNT3,upstream_gene_variant,,ENST00000535402,;B4GALNT3,downstream_gene_variant,,ENST00000535680,;B4GALNT3,downstream_gene_variant,,ENST00000540836,;	uc001qii.1	c.790C>T	803/5068	5	2			c.790C>T						12	SNP	c.(790-792)CGA>TGA	41	41			ovary(1)|skin(1)	2	Broad	beta			657400		0.582	ENSG00000139044	1237	g.chr12:657400C>T		Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity							84.428702	KEEP	22	13	-1	48	45	22	13	-1	88.074334	48	45	0.305556	1	0	0	0	0	0	1	0	0	--	--		0	T			B4GALNT3_uc001qij.1_Nonsense_Mutation_p.R166*	58	GBM-06-0644-TP	p.R264*	C	CTTCCAGTGGCGACGGAACGA	NM_173593	NP_775864	657400	Q6L9W6	B4GN3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		9	790	+	T	T	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		Nonsense_Mutation	264			Lumenal (Potential).			
B4GALT2	8704		GRCh37	1	44446914	44446914	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000309519.7:c.169G>A	p.Val57Ile	p.V57I	ENST00000309519		57	Gtc/Atc	0																																																																																																																																																																																																																																												
B4GALT6	9331		GRCh37	18	29225320	29225320	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0165-01	TCGA-06-0165-01																				ENST00000306851.5:c.469A>G	p.Lys157Glu	p.K157E	ENST00000306851	NM_004775.3	157	Aag/Gag	0																																																																																																																																																																																																																																												
BABAM1	29086		GRCh37	19	17384818	17384818	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000359435.4:c.450C>T	p.Asn150=	p.N150=	ENST00000359435	NM_001033549.1	150	aaC/aaT	0																																																																																																																																																																																																																																												
BACH1	571		GRCh37	21	30693606	30693606	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000399921.1:c.5C>G	p.Ser2Cys	p.S2C	ENST00000399921	NM_206866.1	2	tCt/tGt	0																																																																																																																																																																																																																																												
BAG1	573	broad.mit.edu	GRCh37	9	33258950	33258950	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0171-01	TCGA-06-0171-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000472232.3:c.745G>C	p.Glu249Gln	p.E249Q	ENST00000472232	NM_004323.5	249	Gag/Cag	0			1			G	E/Q	uc003zsj.2	protein_coding	YES	CCDS35004.1			745/1038									ovary(1)	1	c.(745-747)GAG>CAG			Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51035,hmmpanther:PTHR16617,Gene3D:1.20.58.120,SMART_domains:SM00264,Superfamily_domains:SSF63491	BCL2-associated athanogene isoform 1L				ENSP00000420514		7-Apr									COSM2150313,COSM3413601	7-Apr	.		ENST00000472232	Transcript			anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity	ENSG00000107262	g.chr9:33258950C>G	937			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=BAG1_HUMAN&rb=240&re=326&var=E249Q	getma.org/pdb.php?prot=BAG1_HUMAN&from=240&to=326&var=E249Q	getma.org/?cm=var&var=hg19,9,33258950,C,G&fts=all	E249Q	--	--	1																																		SUGT1P1_uc010mjq.1_Intron|BAG1_uc003zsi.2_Missense_Mutation_p.E111Q|BAG1_uc003zsk.2_Missense_Mutation_p.E75Q	1,1	1		benign(0.419)	p.E249Q	NM_004323	NP_004314		tolerated(0.08)	1,1		BAG1	HGNC	Q99933	BAG1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)		J3QTA2_HUMAN		4	834	-			UPI000013C843	249			Interaction with PPP1R15A.|BAG.		SNV	BAG1,missense_variant,p.Glu249Gln,ENST00000472232,NM_004323.5,NM_001172415.1;BAG1,missense_variant,p.Glu134Gln,ENST00000379704,;BAG1,missense_variant,p.Glu140Gln,ENST00000473781,;BAG1,downstream_gene_variant,,ENST00000488499,;BAG1,non_coding_transcript_exon_variant,,ENST00000467389,;BAG1,non_coding_transcript_exon_variant,,ENST00000473464,;BAG1,upstream_gene_variant,,ENST00000493917,;BAG1,3_prime_UTR_variant,,ENST00000379707,;BAG1,non_coding_transcript_exon_variant,,ENST00000379701,;BAG1,upstream_gene_variant,,ENST00000468274,;	uc003zsj.2	c.745G>C	832/3865	3	3			c.745G>C						9	SNP	c.(745-747)GAG>CAG	8	8			ovary(1)	1	Broad	BCL2-associated athanogene isoform 1L			33258950		0.378	ENSG00000107262	1255	g.chr9:33258950C>G	anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity	GBM(77;1066 1502 5858 12192)			GBM(77;1066 1502 5858 12192)			122.572091	KEEP	24	25	-1	55	82	24	25	-1	131.739806	55	82	0.245161	1	0	0	0	0	1	0	0	0	--	--		0	G			SUGT1P1_uc010mjq.1_Intron|BAG1_uc003zsi.2_Missense_Mutation_p.E111Q|BAG1_uc003zsk.2_Missense_Mutation_p.E75Q	35	GBM-06-0171-TP	p.E249Q	C	TTATTCAACTCTTCCAGCTGG	NM_004323	NP_004314	33258950	Q99933	BAG1_HUMAN	0	LUSC - Lung squamous cell carcinoma(29;0.00506)		4	834	-	G	G			Missense_Mutation	249			Interaction with PPP1R15A.|BAG.			
BAG1	573	broad.mit.edu	GRCh37	9	33258984	33258984	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0171-01	TCGA-06-0171-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000472232.3:c.711G>C	p.Glu237Asp	p.E237D	ENST00000472232	NM_004323.5	237	gaG/gaC	0			1			G	E/D	uc003zsj.2	protein_coding	YES	CCDS35004.1			711/1038									ovary(1)	1	c.(709-711)GAG>GAC			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16617,Gene3D:1.20.58.120,Superfamily_domains:SSF63491	BCL2-associated athanogene isoform 1L				ENSP00000420514		7-Apr									COSM2150312,COSM3413602	7-Apr	.		ENST00000472232	Transcript			anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity	ENSG00000107262	g.chr9:33258984C>G	937			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=BAG1_HUMAN&rb=193&re=269&var=E237D	getma.org/pdb.php?prot=BAG1_HUMAN&from=223&to=239&var=E237D	getma.org/?cm=var&var=hg19,9,33258984,C,G&fts=all	E237D	--	--	1																																		SUGT1P1_uc010mjq.1_Intron|BAG1_uc003zsi.2_Missense_Mutation_p.E99D|BAG1_uc003zsk.2_Missense_Mutation_p.E63D	1,1	1		benign(0.209)	p.E237D	NM_004323	NP_004314		deleterious(0.04)	1,1		BAG1	HGNC	Q99933	BAG1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)		J3QTA2_HUMAN		4	800	-			UPI000013C843	237			Interaction with PPP1R15A.		SNV	BAG1,missense_variant,p.Glu237Asp,ENST00000472232,NM_004323.5,NM_001172415.1;BAG1,missense_variant,p.Glu122Asp,ENST00000379704,;BAG1,missense_variant,p.Glu128Asp,ENST00000473781,;BAG1,downstream_gene_variant,,ENST00000488499,;BAG1,non_coding_transcript_exon_variant,,ENST00000467389,;BAG1,non_coding_transcript_exon_variant,,ENST00000473464,;BAG1,upstream_gene_variant,,ENST00000493917,;BAG1,3_prime_UTR_variant,,ENST00000379707,;BAG1,non_coding_transcript_exon_variant,,ENST00000379701,;BAG1,upstream_gene_variant,,ENST00000468274,;	uc003zsj.2	c.711G>C	798/3865	3	3			c.711G>C						9	SNP	c.(709-711)GAG>GAC	64	64			ovary(1)	1	Broad	BCL2-associated athanogene isoform 1L			33258984		0.368	ENSG00000107262	1255	g.chr9:33258984C>G	anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity	GBM(77;1066 1502 5858 12192)			GBM(77;1066 1502 5858 12192)			108.789237	KEEP	26	23	-1	67	81	26	23	-1	119.191731	67	81	0.232704	1	0	0	0	0	1	0	0	0	--	--		0	G			SUGT1P1_uc010mjq.1_Intron|BAG1_uc003zsi.2_Missense_Mutation_p.E99D|BAG1_uc003zsk.2_Missense_Mutation_p.E63D	35	GBM-06-0171-TP	p.E237D	C	CCACAGACTTCTCCAAATGTT	NM_004323	NP_004314	33258984	Q99933	BAG1_HUMAN	0	LUSC - Lung squamous cell carcinoma(29;0.00506)		4	800	-	G	G			Missense_Mutation	237			Interaction with PPP1R15A.			
BAG1	573	broad.mit.edu	GRCh37	9	33259020	33259020	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0171-01	TCGA-06-0171-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000472232.3:c.675G>T	p.Gln225His	p.Q225H	ENST00000472232	NM_004323.5	225	caG/caT	0			1			A	Q/H	uc003zsj.2	protein_coding	YES	CCDS35004.1			675/1038									ovary(1)	1	c.(673-675)CAG>CAT			hmmpanther:PTHR16617,Gene3D:1.20.58.120,Superfamily_domains:SSF63491,Superfamily_domains:SSF54236	BCL2-associated athanogene isoform 1L				ENSP00000420514		7-Apr									COSM2150333,COSM3413603	7-Apr	.		ENST00000472232	Transcript			anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity	ENSG00000107262	g.chr9:33259020C>A	937			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=BAG1_HUMAN&rb=193&re=269&var=Q225H	getma.org/pdb.php?prot=BAG1_HUMAN&from=223&to=239&var=Q225H	getma.org/?cm=var&var=hg19,9,33259020,C,A&fts=all	Q225H	--	--	1																																		SUGT1P1_uc010mjq.1_Intron|BAG1_uc003zsi.2_Missense_Mutation_p.Q87H|BAG1_uc003zsk.2_Missense_Mutation_p.Q51H	1,1	1		benign(0.007)	p.Q225H	NM_004323	NP_004314		deleterious(0.02)	1,1		BAG1	HGNC	Q99933	BAG1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)		J3QTA2_HUMAN		4	764	-			UPI000013C843	225			Interaction with PPP1R15A.		SNV	BAG1,missense_variant,p.Gln225His,ENST00000472232,NM_004323.5,NM_001172415.1;BAG1,missense_variant,p.Gln110His,ENST00000379704,;BAG1,missense_variant,p.Gln116His,ENST00000473781,;BAG1,downstream_gene_variant,,ENST00000488499,;BAG1,non_coding_transcript_exon_variant,,ENST00000467389,;BAG1,non_coding_transcript_exon_variant,,ENST00000473464,;BAG1,upstream_gene_variant,,ENST00000493917,;BAG1,stop_gained,p.Gly158Ter,ENST00000379707,;BAG1,non_coding_transcript_exon_variant,,ENST00000379701,;BAG1,upstream_gene_variant,,ENST00000468274,;	uc003zsj.2	c.675G>T	762/3865	1	1			c.675G>T						9	SNP	c.(673-675)CAG>CAT	63	63			ovary(1)	1	Broad	BCL2-associated athanogene isoform 1L			33259020		0.294	ENSG00000107262	1255	g.chr9:33259020C>A	anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity	GBM(77;1066 1502 5858 12192)			GBM(77;1066 1502 5858 12192)			74.082354	KEEP	22	17	0.435897436	50	55	22	17	0.435897436	81.617871	50	55	0.241935	1	0	0	0	0	1	0	0	0	--	--		0	A			SUGT1P1_uc010mjq.1_Intron|BAG1_uc003zsi.2_Missense_Mutation_p.Q87H|BAG1_uc003zsk.2_Missense_Mutation_p.Q51H	35	GBM-06-0171-TP	p.Q225H	C	CAACCTCTTCCTGTGGACTGT	NM_004323	NP_004314	33259020	Q99933	BAG1_HUMAN	0	LUSC - Lung squamous cell carcinoma(29;0.00506)		4	764	-	A	A			Missense_Mutation	225			Interaction with PPP1R15A.			
BAHD1	22893	broad.mit.edu	GRCh37	15	40751616	40751616	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0122-01	TCGA-06-0122-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000416165.1:c.953T>C	p.Met318Thr	p.M318T	ENST00000416165	NM_014952.3	318	aTg/aCg	0			1			C	M/T	uc001zlu.2	protein_coding	YES	CCDS10058.1			953/2343										0	c.(952-954)ATG>ACG			hmmpanther:PTHR12505	bromo adjacent homology domain containing 1				ENSP00000396976		7-Feb									COSM2149199	7-Feb	.		ENST00000416165	Transcript			heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	ENSG00000140320	g.chr15:40751616T>C	29153			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=BAHD1_HUMAN&rb=1&re=585&var=M318T	NA	getma.org/?cm=var&var=hg19,15,40751616,T,C&fts=all	M318T	--	--	1																																		BAHD1_uc001zlt.2_Missense_Mutation_p.M318T|BAHD1_uc010bbp.1_Missense_Mutation_p.M318T|BAHD1_uc001zlv.2_Missense_Mutation_p.M318T	1	1		probably_damaging(0.943)	p.M318T	NM_014952	NP_055767		deleterious(0)	1	BAHD1_HUMAN	BAHD1	HGNC	Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)			2	1024	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	UPI000013D778	318			Pro-rich.		SNV	BAHD1,missense_variant,p.Met318Thr,ENST00000561234,;BAHD1,missense_variant,p.Met318Thr,ENST00000416165,NM_014952.3;BAHD1,missense_variant,p.Met318Thr,ENST00000560846,;RP11-64K12.8,downstream_gene_variant,,ENST00000559730,;RP11-64K12.9,upstream_gene_variant,,ENST00000558601,;	uc001zlu.2	c.953T>C	1024/4526	3	3			c.953T>C						15	SNP	c.(952-954)ATG>ACG	4	4				0	Broad	bromo adjacent homology domain containing 1			40751616		0.652	ENSG00000140320	1266	g.chr15:40751616T>C	heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding							83.557378	KEEP	22	13	-1	41	30	22	13	-1	85.817696	41	30	0.329545	1	0	0	0	0	1	0	0	0	--	--		0	C			BAHD1_uc001zlt.2_Missense_Mutation_p.M318T|BAHD1_uc010bbp.1_Missense_Mutation_p.M318T|BAHD1_uc001zlv.2_Missense_Mutation_p.M318T	10	GBM-06-0122-TP	p.M318T	T	CCCCTGCTGATGGGTGGACAG	NM_014952	NP_055767	40751616	Q8TBE0	BAHD1_HUMAN	0		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	2	1024	+	C	C		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	Missense_Mutation	318			Pro-rich.			
BAHD1	0	broad.mit.edu	GRCh37	15	40758215	40758215	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-26-5135-01	TCGA-26-5135-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000416165.1:c.2229C>T	p.Asp743=	p.D743=	ENST00000416165	NM_014952.3	743	gaC/gaT	0			1			T	D	uc001zlu.2	protein_coding	YES	CCDS10058.1			2229/2343										0	c.(2227-2229)GAC>GAT			Pfam_domain:PF01426,PROSITE_profiles:PS51038,hmmpanther:PTHR12505,SMART_domains:SM00439	bromo adjacent homology domain containing 1				ENSP00000396976		7-Jul									COSM2157040	7-Jul	.		ENST00000416165	Transcript			heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	ENSG00000140320	g.chr15:40758215C>T	29153			LOW								--	--	1																																		BAHD1_uc001zlt.2_Silent_p.D742D|BAHD1_uc010bbp.1_Silent_p.D739D|BAHD1_uc001zlv.2_Silent_p.D740D	1	1			p.D743D	NM_014952	NP_055767			1	BAHD1_HUMAN	BAHD1	HGNC	Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)			7	2300	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	UPI000013D778	743			BAH.		SNV	BAHD1,synonymous_variant,p.=,ENST00000561234,;BAHD1,synonymous_variant,p.=,ENST00000416165,NM_014952.3;BAHD1,synonymous_variant,p.=,ENST00000560846,;CHST14,upstream_gene_variant,,ENST00000306243,NM_130468.3;RP11-64K12.8,intron_variant,,ENST00000559730,;BAHD1,downstream_gene_variant,,ENST00000561464,;	uc001zlu.2	c.2229C>T	2300/4526	1	1			c.2229C>T						15	SNP	c.(2227-2229)GAC>GAT	12	12				0	Broad	bromo adjacent homology domain containing 1			40758215		0.602	ENSG00000140320	1266	g.chr15:40758215C>T	heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding							476.445392	KEEP	74	88	-1	87	100	74	88	-1	476.739078	87	100	0.46789	1	0	0	0	0	0	0	1	0	--	--		0	T			BAHD1_uc001zlt.2_Silent_p.D742D|BAHD1_uc010bbp.1_Silent_p.D739D|BAHD1_uc001zlv.2_Silent_p.D740D	184	GBM-26-5135-TP	p.D743D	C	CCTCTGCAGACTATTCCACCC	NM_014952	NP_055767	40758215	Q8TBE0	BAHD1_HUMAN	0		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	7	2300	+	T	T		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	Silent	743			BAH.			
BAHD1	22893		GRCh37	15	40751318	40751318	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000416165.1:c.655C>T	p.Arg219Trp	p.R219W	ENST00000416165	NM_014952.3	219	Cgg/Tgg	0																																																																																																																																																																																																																																												
BAHD1	22893		GRCh37	15	40750942	40750942	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000416165.1:c.279G>A	p.Pro93=	p.P93=	ENST00000416165	NM_014952.3	93	ccG/ccA	0																																																																																																																																																																																																																																												
BAI1	0	broad.mit.edu	GRCh37	8	143625027	143625027	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-1970-01	TCGA-32-1970-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323289.5:c.4515C>T	p.His1505=	p.H1505=	ENST00000323289	NM_001702.2	1505	caC/caT	0			1			T	H	uc003ywm.2	protein_coding		CCDS64985.1			4515/4755									lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	c.(4513-4515)CAC>CAT			Coiled-coils_(Ncoils):Coil	brain-specific angiogenesis inhibitor 1				ENSP00000313046		29/30	3.41E-05							0.000124	rs757570335,COSM3412796	29/30	.		ENST00000323289	Transcript			axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	ENSG00000181790	g.chr8:143625027C>T	943			LOW								--	--	1																																			0,1				p.H1505H	NM_001702	NP_001693			0,1	BAI1_HUMAN	BAI1	HGNC	O14514	BAI1_HUMAN					29	4698	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		UPI00002109E8	1505			Cytoplasmic (Potential).|Necessary for interaction with MAGI1.		SNV	BAI1,synonymous_variant,p.=,ENST00000517894,;BAI1,synonymous_variant,p.=,ENST00000323289,NM_001702.2;BAI1,3_prime_UTR_variant,,ENST00000521208,;BAI1,non_coding_transcript_exon_variant,,ENST00000518812,;BAI1,downstream_gene_variant,,ENST00000518820,;	uc003ywm.2	c.4515C>T	4698/5506	2	2			c.4515C>T						8	SNP	c.(4513-4515)CAC>CAT	42	42			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	Broad	brain-specific angiogenesis inhibitor 1			143625027		0.662	ENSG00000181790	1267	g.chr8:143625027C>T	axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			829			829	19.553053	KEEP	3	3	-1	2	1	3	3	-1	19.774809	2	1	0.666667	1	0	0	0	0	0	0	1	0	--	--		0	T				228	GBM-32-1970-TP	p.H1505H	C	AGCTGCAGCACGCAGCGGAGA	NM_001702	NP_001693	143625027	O14514	BAI1_HUMAN	0			29	4698	+	T	T	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		Silent	1505			Cytoplasmic (Potential).|Necessary for interaction with MAGI1.			
BAI1	0	broad.mit.edu	GRCh37	8	143558906	143558906	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6285-01	TCGA-76-6285-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323289.5:c.1383C>T	p.Cys461=	p.C461=	ENST00000323289	NM_001702.2	461	tgC/tgT	0			1			T	C	uc003ywm.2	protein_coding		CCDS64985.1			1383/4755									lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	c.(1381-1383)TGC>TGT			Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF39,SMART_domains:SM00209,Superfamily_domains:SSF82895	brain-specific angiogenesis inhibitor 1				ENSP00000313046		30-May									COSM3412795	30-May	.		ENST00000323289	Transcript			axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	ENSG00000181790	g.chr8:143558906C>T	943			LOW								--	--	1																																			1				p.C461C	NM_001702	NP_001693			1	BAI1_HUMAN	BAI1	HGNC	O14514	BAI1_HUMAN					5	1566	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		UPI00002109E8	461			Extracellular (Potential).|TSP type-1 3.		SNV	BAI1,synonymous_variant,p.=,ENST00000517894,;BAI1,synonymous_variant,p.=,ENST00000323289,NM_001702.2;BAI1,synonymous_variant,p.=,ENST00000521208,;BAI1,upstream_gene_variant,,ENST00000518820,;	uc003ywm.2	c.1383C>T	1566/5506	1	1			c.1383C>T						8	SNP	c.(1381-1383)TGC>TGT	1	1			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	Broad	brain-specific angiogenesis inhibitor 1			143558906		0.657	ENSG00000181790	1267	g.chr8:143558906C>T	axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			829			829	-4.017714	KEEP	0	4	-1	27	33	0	4	-1	6.652802	27	33	0.057692	1	0	0	0	0	0	0	1	0	--	--		0	T				280	GBM-76-6285-TP	p.C461C	C	TTGCCCTGTGCCCTGGTAGGT	NM_001702	NP_001693	143558906	O14514	BAI1_HUMAN	0			5	1566	+	T	T	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		Silent	461			Extracellular (Potential).|TSP type-1 3.			
BAI3			GRCh37	6	70042889	70042889	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000370598.1:c.3177A>G	p.Lys1059=	p.K1059=	ENST00000370598	NM_001704.2	1059	aaA/aaG	0																																																																																																																																																																																																																																												
BAIAP2L1	55971	broad.mit.edu	GRCh37	7	97935824	97935824	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0749-01	TCGA-06-0749-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000005260.8:c.1168G>C	p.Gly390Arg	p.G390R	ENST00000005260	NM_018842.4	390	Ggt/Cgt	0			1			G	G/R	uc003upj.2	protein_coding	YES	CCDS34687.1			1168/1536									ovary(1)	1	c.(1168-1170)GGT>CGT			Superfamily_domains:SSF50044,SMART_domains:SM00326,Pfam_domain:PF14604,Gene3D:2.30.30.40,hmmpanther:PTHR14206,hmmpanther:PTHR14206:SF4,PROSITE_profiles:PS50002	BAI1-associated protein 2-like 1				ENSP00000005260		14-Nov									COSM3412531	14-Nov	.		ENST00000005260	Transcript			filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding	ENSG00000006453	g.chr7:97935824C>G	21649			MODERATE		4.64	high	getma.org/?cm=msa&ty=f&p=BI2L1_HUMAN&rb=343&re=399&var=G390R	getma.org/pdb.php?prot=BI2L1_HUMAN&from=343&to=399&var=G390R	getma.org/?cm=var&var=hg19,7,97935824,C,G&fts=all	G390R	--	--	1																																		uc003upk.1_5'Flank	1	1		probably_damaging(1)	p.G390R	NM_018842	NP_061330		deleterious(0)	1	BI2L1_HUMAN	BAIAP2L1	HGNC	Q9UHR4	BI2L1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)				11	1431	-	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		UPI0000035DA9	390			SH3.		SNV	BAIAP2L1,missense_variant,p.Gly390Arg,ENST00000005260,NM_018842.4;RP4-607J23.2,upstream_gene_variant,,ENST00000608882,;RP4-607J23.2,upstream_gene_variant,,ENST00000609873,;BAIAP2L1,downstream_gene_variant,,ENST00000462558,;BRI3,upstream_gene_variant,,ENST00000485422,;BRI3,missense_variant,p.Pro34Arg,ENST00000491463,;BAIAP2L1,non_coding_transcript_exon_variant,,ENST00000480580,;	uc003upj.2	c.1168G>C	1384/3622	4	4			c.1168G>C						7	SNP	c.(1168-1170)GGT>CGT	19	19			ovary(1)	1	Broad	BAI1-associated protein 2-like 1			97935824		0.572	ENSG00000006453	1271	g.chr7:97935824C>G	filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding							-33.211708	KEEP	0	3	-1	108	73	0	3	-1	6.712952	108	73	0.019481	1	0	0	0	0	1	0	0	0	--	--		0	G			uc003upk.1_5'Flank	69	GBM-06-0749-TP	p.G390R	C	GGGAACCAACCCCTCCTACCG	NM_018842	NP_061330	97935824	Q9UHR4	BI2L1_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.215)		11	1431	-	G	G	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		Missense_Mutation	390			SH3.			
BAIAP2L1	0	broad.mit.edu	GRCh37	7	97944874	97944874	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-19-5955-01	TCGA-19-5955-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000005260.8:c.537A>G	p.Ala179=	p.A179=	ENST00000005260	NM_018842.4	179	gcA/gcG	0			1			C	A	uc003upj.2	protein_coding	YES	CCDS34687.1			537/1536									ovary(1)	1	c.(535-537)GCA>GCG			Superfamily_domains:SSF103657,Gene3D:1y2oA00,Pfam_domain:PF08397,hmmpanther:PTHR14206,hmmpanther:PTHR14206:SF4,PROSITE_profiles:PS51338	BAI1-associated protein 2-like 1				ENSP00000005260		14-Jul									COSM3412532	14-Jul	.		ENST00000005260	Transcript			filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding	ENSG00000006453	g.chr7:97944874T>C	21649			LOW								--	--	1																																			1	1			p.A179A	NM_018842	NP_061330			1	BI2L1_HUMAN	BAIAP2L1	HGNC	Q9UHR4	BI2L1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)				7	800	-	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		UPI0000035DA9	179			IMD.		SNV	BAIAP2L1,synonymous_variant,p.=,ENST00000005260,NM_018842.4;BAIAP2L1,non_coding_transcript_exon_variant,,ENST00000462558,;BAIAP2L1,downstream_gene_variant,,ENST00000473569,;	uc003upj.2	c.537A>G	753/3622	3	3			c.537A>G						7	SNP	c.(535-537)GCA>GCG	15	15			ovary(1)	1	Broad	BAI1-associated protein 2-like 1			97944874		0.358	ENSG00000006453	1271	g.chr7:97944874T>C	filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding							-37.498679	KEEP	2	4	-1	95	123	2	4	-1	10.403687	95	123	0.030303	1	0	0	0	0	0	0	1	0	--	--		0	C				175	GBM-19-5955-TP	p.A179A	T	TGCAACCATCTGCAATGAATT	NM_018842	NP_061330	97944874	Q9UHR4	BI2L1_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.215)		7	800	-	C	C	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		Silent	179			IMD.			
BAIAP2L1	0	broad.mit.edu	GRCh37	7	97922864	97922864	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs140138864		TCGA-26-5136-01	TCGA-26-5136-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000005260.8:c.1505C>T	p.Thr502Met	p.T502M	ENST00000005260	NM_018842.4	502	aCg/aTg	0	A:0.0002		1			A	T/M	uc003upj.2	protein_coding	YES	CCDS34687.1			1505/1536									ovary(1)	1	c.(1504-1506)ACG>ATG			hmmpanther:PTHR14206,hmmpanther:PTHR14206:SF4	BAI1-associated protein 2-like 1			A:0	ENSP00000005260		14/14	7.41E-05	9.61E-05	0.000345			4.50E-05		6.06E-05	rs140138864,COSM2157143	14/14	.		ENST00000005260	Transcript			filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding	ENSG00000006453	g.chr7:97922864G>A	21649			MODERATE		2.34	medium	getma.org/?cm=msa&ty=f&p=BI2L1_HUMAN&rb=400&re=511&var=T502M	NA	getma.org/?cm=var&var=hg19,7,97922864,G,A&fts=all	T502M	--	--	1																																			0,1	1		probably_damaging(0.999)	p.T502M	NM_018842	NP_061330		deleterious(0)	0,1	BI2L1_HUMAN	BAIAP2L1	HGNC	Q9UHR4	BI2L1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)				14	1768	-	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		UPI0000035DA9	502	Missing: Loss ability to induce the formation of actin clusters; induce the formation of long filopodia.		Binds F-actin.		SNV	BAIAP2L1,missense_variant,p.Thr502Met,ENST00000005260,NM_018842.4;BRI3,downstream_gene_variant,,ENST00000297290,NM_015379.4;BRI3,downstream_gene_variant,,ENST00000539286,NM_001159491.1;BRI3,downstream_gene_variant,,ENST00000473967,;BRI3,downstream_gene_variant,,ENST00000456357,;BRI3,intron_variant,,ENST00000491463,;	uc003upj.2	c.1505C>T	1721/3622	2	2			c.1505C>T						7	SNP	c.(1504-1506)ACG>ATG	43	43			ovary(1)	1	Broad	BAI1-associated protein 2-like 1			97922864		0.547	ENSG00000006453	1271	g.chr7:97922864G>A	filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding							280.558968	KEEP	57	78	-1	165	188	57	78	-1	298.058009	165	188	0.278894	1	0	0	0	0	1	0	0	0	--	--		0	A				185	GBM-26-5136-TP	p.T502M	G	GCGATCATTCGTCACAGTCGG	NM_018842	NP_061330	97922864	Q9UHR4	BI2L1_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.215)		14	1768	-	A	A	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		Missense_Mutation	502	Missing: Loss ability to induce the formation of actin clusters; induce the formation of long filopodia.		Binds F-actin.			
BAIAP3	8938	broad.mit.edu	GRCh37	16	1392020	1392020	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5417-01	TCGA-06-5417-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324385.5:c.915G>A	p.Ala305=	p.A305=	ENST00000324385	NM_003933.4	305	gcG/gcA	0	A:0		1			A	A	uc002clk.1	protein_coding	YES	CCDS10434.1			915/3564									pancreas(1)	1	c.(913-915)GCG>GCA			SMART_domains:SM00239,hmmpanther:PTHR15015,hmmpanther:PTHR15015:SF19,PROSITE_profiles:PS50004	BAI1-associated protein 3			A:0.0001	ENSP00000324510		Oct-34	1.65E-05			0.000116		1.56E-05			rs373003886,COSM2153262	Oct-34	.		ENST00000324385	Transcript			G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	ENSG00000007516	g.chr16:1392020G>A	948			LOW								--	--	1																																		BAIAP3_uc002clj.2_Silent_p.A287A|BAIAP3_uc010uuz.1_Silent_p.A270A|BAIAP3_uc010uva.1_Silent_p.A242A|BAIAP3_uc010uvb.1_Silent_p.A322A|BAIAP3_uc010uvc.1_Silent_p.A270A	0,1	1			p.A305A	NM_003933	NP_003924			0,1	BAIP3_HUMAN	BAIAP3	HGNC	O94812	BAIP3_HUMAN					10	915	+		Hepatocellular(780;0.0893)	UPI0000071E58	305			C2 1.		SNV	BAIAP3,synonymous_variant,p.=,ENST00000324385,NM_003933.4;BAIAP3,synonymous_variant,p.=,ENST00000397488,NM_001286464.1;BAIAP3,synonymous_variant,p.=,ENST00000397489,;BAIAP3,synonymous_variant,p.=,ENST00000426824,NM_001199097.1;BAIAP3,synonymous_variant,p.=,ENST00000421665,NM_001199096.1;BAIAP3,synonymous_variant,p.=,ENST00000568887,NM_001199099.1;BAIAP3,synonymous_variant,p.=,ENST00000562208,NM_001199098.1;BAIAP3,upstream_gene_variant,,ENST00000566162,;BAIAP3,upstream_gene_variant,,ENST00000561793,;BAIAP3,upstream_gene_variant,,ENST00000564213,;BAIAP3,non_coding_transcript_exon_variant,,ENST00000567825,;BAIAP3,upstream_gene_variant,,ENST00000566389,;BAIAP3,upstream_gene_variant,,ENST00000568198,;BAIAP3,upstream_gene_variant,,ENST00000561602,;BAIAP3,downstream_gene_variant,,ENST00000565665,;BAIAP3,upstream_gene_variant,,ENST00000567203,;	uc002clk.1	c.915G>A	1073/4678	2	2			c.915G>A						16	SNP	c.(913-915)GCG>GCA	24	24			pancreas(1)	1	Broad	BAI1-associated protein 3			1392020		0.617	ENSG00000007516	1273	g.chr16:1392020G>A	G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding							95.426854	KEEP	19	18	-1	9	17	19	18	-1	95.684426	9	17	0.574074	1	0	0	0	0	0	0	1	0	--	--		0	A			BAIAP3_uc002clj.2_Silent_p.A287A|BAIAP3_uc010uuz.1_Silent_p.A270A|BAIAP3_uc010uva.1_Silent_p.A242A|BAIAP3_uc010uvb.1_Silent_p.A322A|BAIAP3_uc010uvc.1_Silent_p.A270A	99	GBM-06-5417-TP	p.A305A	G	TGGTAGAAGCGTGCAGGAAGC	NM_003933	NP_003924	1392020	O94812	BAIP3_HUMAN	0			10	915	+	A	A		Hepatocellular(780;0.0893)	Silent	305			C2 1.			
BANK1	55024	broad.mit.edu	GRCh37	4	102984233	102984233	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0168-01	TCGA-06-0168-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322953.4:c.2150A>C	p.Glu717Ala	p.E717A	ENST00000322953	NM_017935.4	717	gAg/gCg	0			1			C	E/A	uc003hvy.3	protein_coding	YES	CCDS34038.1			2150/2358									ovary(2)|skin(1)	3	c.(2149-2151)GAG>GCG			hmmpanther:PTHR16267,hmmpanther:PTHR16267:SF10	B-cell scaffold protein with ankyrin repeats 1				ENSP00000320509		13/17									COSM3408950	13/17	.		ENST00000322953	Transcript	1		B cell activation			ENSG00000153064	g.chr4:102984233A>C	18233			MODERATE		1.795	low	getma.org/?cm=msa&ty=f&p=BANK1_HUMAN&rb=1&re=738&var=E717A	NA	getma.org/?cm=var&var=hg19,4,102984233,A,C&fts=all	E717A	--	--	1																																		BANK1_uc003hvx.3_Missense_Mutation_p.E702A|BANK1_uc010ill.2_Missense_Mutation_p.E584A|BANK1_uc003hvz.3_Missense_Mutation_p.E687A	1	1		possibly_damaging(0.453)	p.E717A	NM_017935	NP_060405		deleterious(0.02)	1	BANK1_HUMAN	BANK1	HGNC	Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)			13	2424	+		Hepatocellular(203;0.217)	UPI0000D6159D	717					SNV	BANK1,missense_variant,p.Glu702Ala,ENST00000504592,;BANK1,missense_variant,p.Glu717Ala,ENST00000322953,NM_017935.4;BANK1,missense_variant,p.Glu687Ala,ENST00000444316,NM_001083907.2;BANK1,missense_variant,p.Glu584Ala,ENST00000428908,NM_001127507.2;BANK1,missense_variant,p.Glu584Ala,ENST00000508653,;BANK1,non_coding_transcript_exon_variant,,ENST00000504403,;	uc003hvy.3	c.2150A>C	2424/3372	3	3			c.2150A>C						4	SNP	c.(2149-2151)GAG>GCG	12	12			ovary(2)|skin(1)	3	Broad	B-cell scaffold protein with ankyrin repeats 1			102984233		0.323	ENSG00000153064	1278	g.chr4:102984233A>C	B cell activation									-15.158614	KEEP	2	1	-1	58	44	2	1	-1	6.792757	58	44	0.032609	1	0	0	0	0	1	0	0	0	--	--		0	C			BANK1_uc003hvx.3_Missense_Mutation_p.E702A|BANK1_uc010ill.2_Missense_Mutation_p.E584A|BANK1_uc003hvz.3_Missense_Mutation_p.E687A	33	GBM-06-0168-TP	p.E717A	A	CACATTAAGGAGAAATTACGA	NM_017935	NP_060405	102984233	Q8NDB2	BANK1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	13	2424	+	C	C		Hepatocellular(203;0.217)	Missense_Mutation	717						
BANK1	0	broad.mit.edu	GRCh37	4	102816534	102816534	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-2634-01	TCGA-32-2634-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322953.4:c.976T>C	p.Ser326Pro	p.S326P	ENST00000322953	NM_017935.4	326	Tct/Cct	0			1			C	S/P	uc003hvy.3	protein_coding	YES	CCDS34038.1			976/2358									ovary(2)|skin(1)	3	c.(976-978)TCT>CCT			Pfam_domain:PF14545,PROSITE_profiles:PS51376,hmmpanther:PTHR16267,hmmpanther:PTHR16267:SF10	B-cell scaffold protein with ankyrin repeats 1				ENSP00000320509		17-Jun									COSM3408948	17-Jun	.		ENST00000322953	Transcript	1		B cell activation			ENSG00000153064	g.chr4:102816534T>C	18233			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=BANK1_HUMAN&rb=1&re=738&var=S326P	NA	getma.org/?cm=var&var=hg19,4,102816534,T,C&fts=all	S326P	--	--	1																																		BANK1_uc003hvx.3_Missense_Mutation_p.S311P|BANK1_uc010ill.2_Missense_Mutation_p.S193P|BANK1_uc003hvz.3_Missense_Mutation_p.S296P	1	1		benign(0.01)	p.S326P	NM_017935	NP_060405		tolerated(0.32)	1	BANK1_HUMAN	BANK1	HGNC	Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)			6	1250	+		Hepatocellular(203;0.217)	UPI0000D6159D	326			DBB.		SNV	BANK1,missense_variant,p.Ser311Pro,ENST00000504592,;BANK1,missense_variant,p.Ser326Pro,ENST00000322953,NM_017935.4;BANK1,missense_variant,p.Ser296Pro,ENST00000444316,NM_001083907.2;BANK1,missense_variant,p.Ser193Pro,ENST00000428908,NM_001127507.2;BANK1,missense_variant,p.Ser193Pro,ENST00000508653,;	uc003hvy.3	c.976T>C	1250/3372	3	3			c.976T>C						4	SNP	c.(976-978)TCT>CCT	12	12			ovary(2)|skin(1)	3	Broad	B-cell scaffold protein with ankyrin repeats 1			102816534		0.303	ENSG00000153064	1278	g.chr4:102816534T>C	B cell activation									-7.509358	KEEP	6	1	-1	54	51	6	1	-1	13.688186	54	51	0.050505	1	0	0	0	0	1	0	0	0	--	--		0	C			BANK1_uc003hvx.3_Missense_Mutation_p.S311P|BANK1_uc010ill.2_Missense_Mutation_p.S193P|BANK1_uc003hvz.3_Missense_Mutation_p.S296P	241	GBM-32-2634-TP	p.S326P	T	TGAGTTCCAGTCTCTTCAAAC	NM_017935	NP_060405	102816534	Q8NDB2	BANK1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	6	1250	+	C	C		Hepatocellular(203;0.217)	Missense_Mutation	326			DBB.			
BAP1	8314		GRCh37	3	52440327	52440327	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000460680.1:c.725A>G	p.Glu242Gly	p.E242G	ENST00000460680	NM_004656.3	242	gAg/gGg	0																																																																																																																																																																																																																																												
BARD1	0	broad.mit.edu	GRCh37	2	215609857	215609857	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-12-0692-01	TCGA-12-0692-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260947.4:c.1837delG	p.Ala613GlnfsTer6	p.A613Qfs*6	ENST00000260947	NM_000465.2	613	Gca/ca	0			1			-	A/X	uc002veu.2	protein_coding	YES	CCDS2397.1			1837/2334									lung(2)	2	c.(1837-1839)GCAfs			PROSITE_profiles:PS50172,hmmpanther:PTHR24171:SF8,hmmpanther:PTHR24171,Gene3D:3.40.50.10190,Pfam_domain:PF00533,SMART_domains:SM00292,Superfamily_domains:SSF52113	BRCA1 associated RING domain 1				ENSP00000260947		11-Sep									COSM2154272,COSM2154271	11-Sep	.	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	ENST00000260947	Transcript	1		cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000138376	g.chr2:215609857delC	952			HIGH								--	--	1																																		BARD1_uc010zjm.1_Frame_Shift_Del_p.A469fs	1,1	1			p.A613fs	NM_000465	NP_000456			1,1	BARD1_HUMAN	BARD1	HGNC	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)			9	1972	-		Renal(323;0.0243)	UPI000013D11D	613			BRCT 1.		deletion	BARD1,frameshift_variant,p.Ala613GlnfsTer6,ENST00000260947,NM_000465.2,NM_001282548.1,NM_001282545.1,NM_001282543.1;BARD1,frameshift_variant,p.Ala469GlnfsTer6,ENST00000449967,;BARD1,frameshift_variant,p.Ala162GlnfsTer6,ENST00000421162,;BARD1,3_prime_UTR_variant,,ENST00000455743,;BARD1,downstream_gene_variant,,ENST00000465841,;	uc002veu.2	c.1837delG	1972/5499	5	5			c.1837delG						2	DEL	c.(1837-1839)GCAfs	32	32			lung(2)	2	Broad	BRCA1 associated RING domain 1			215609857	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	0.338	ENSG00000138376	1281	g.chr2:215609857delC	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding																				0.53	1	1	0	1	0	0	0	0	0	--	--		0	-			BARD1_uc010zjm.1_Frame_Shift_Del_p.A469fs	122	GBM-12-0692-TP	p.A613fs	C	CTTTGAACTGCATCACCAGGA	NM_000465	NP_000456	215609857	Q99728	BARD1_HUMAN	0		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	9	1972	-	-	-		Renal(323;0.0243)	Frame_Shift_Del	613			BRCT 1.			
BARHL2	0	broad.mit.edu	GRCh37	1	91182336	91182336	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-3393-01	TCGA-41-3393-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370445.4:c.417G>A	p.Thr139=	p.T139=	ENST00000370445	NM_020063.1	139	acG/acA	0			1			T	T	uc001dns.2	protein_coding	YES	CCDS730.1			417/1164									ovary(1)	1	c.(415-417)ACG>ACA			hmmpanther:PTHR24330,hmmpanther:PTHR24330:SF4,Low_complexity_(Seg):seg	BarH-like homeobox 2				ENSP00000359474		3-Jan									COSM3401079	3-Jan	.		ENST00000370445	Transcript				nucleus	sequence-specific DNA binding	ENSG00000143032	g.chr1:91182336C>T	954			LOW								--	--	1																																			1	1			p.T139T	NM_020063	NP_064447			1	BARH2_HUMAN	BARHL2	HGNC	Q9NY43	BARH2_HUMAN		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)			1	459	-		all_lung(203;0.0263)|Lung SC(238;0.128)	UPI00001B50ED	139					SNV	BARHL2,synonymous_variant,p.=,ENST00000370445,NM_020063.1;	uc001dns.2	c.417G>A	459/1979	2	2			c.417G>A						1	SNP	c.(415-417)ACG>ACA	38	38			ovary(1)	1	Broad	BarH-like homeobox 2			91182336		0.512	ENSG00000143032	1283	g.chr1:91182336C>T		nucleus	sequence-specific DNA binding	GBM(199;3561 4100 22440)			GBM(199;3561 4100 22440)			10.069975	KEEP	1	3	-1	3	2	1	3	-1	10.097835	3	2	0.444444	1	0	0	0	0	0	0	1	0	--	--		0	T				255	GBM-41-3393-TP	p.T139T	C	AAAAAGAAGACGTGGAAGTCC	NM_020063	NP_064447	91182336	Q9NY43	BARH2_HUMAN	0		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)	1	459	-	T	T		all_lung(203;0.0263)|Lung SC(238;0.128)	Silent	139						
BARHL2	343472		GRCh37	1	91182597	91182597	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000370445.4:c.156T>C	p.Cys52=	p.C52=	ENST00000370445	NM_020063.1	52	tgT/tgC	0																																																																																																																																																																																																																																												
BARX2	0	broad.mit.edu	GRCh37	11	129306839	129306839	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-1395-01	TCGA-14-1395-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281437.4:c.381G>A	p.Thr127=	p.T127=	ENST00000281437	NM_003658.4	127	acG/acA	0			1			A	T	uc001qfc.3	protein_coding	YES	CCDS8481.1			381/840										0	c.(379-381)ACG>ACA			Gene3D:1.10.10.60,hmmpanther:PTHR24330,hmmpanther:PTHR24330:SF7,Superfamily_domains:SSF46689	BarH-like homeobox 2				ENSP00000281437		4-Feb	9.88E-05			0.000477		4.69E-05		0.000317	rs781012197,COSM1977871	4-Feb	common_variant		ENST00000281437	Transcript						ENSG00000043039	g.chr11:129306839G>A	956			LOW								--	--	1																																			0,1	1			p.T127T	NM_003658	NP_003649			0,1	BARX2_HUMAN	BARX2	HGNC	Q9UMQ3	BARX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)	G3V397_HUMAN		2	431	+	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	UPI000013DC78	127					SNV	BARX2,synonymous_variant,p.=,ENST00000281437,NM_003658.4;BARX2,5_prime_UTR_variant,,ENST00000526127,;BARX2,non_coding_transcript_exon_variant,,ENST00000605151,;	uc001qfc.3	c.381G>A	477/1810	1	1			c.381G>A						11	SNP	c.(379-381)ACG>ACA	52	52				0	Broad	BarH-like homeobox 2			129306839		0.637	ENSG00000043039	1285	g.chr11:129306839G>A										35.236243	KEEP	5	11	-1	6	8	5	11	-1	35.243797	6	8	0.518519	1	0	0	0	0	0	0	1	0	--	--		0	A				144	GBM-14-1395-TP	p.T127T	G	AACAGCCCACGCCCCGACAGA	NM_003658	NP_003649	129306839	Q9UMQ3	BARX2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)	2	431	+	A	A	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	Silent	127						
BASP1	10409	broad.mit.edu	GRCh37	5	17275409	17275409	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0124-01	TCGA-06-0124-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322611.3:c.84C>T	p.Gly28=	p.G28=	ENST00000322611	NM_006317.4	28	ggC/ggT	0			1			T	G	uc003jfx.2	protein_coding	YES	CCDS3888.1			84/684										0	c.(82-84)GGC>GGT			Low_complexity_(Seg):seg,hmmpanther:PTHR23212:SF0,hmmpanther:PTHR23212,Pfam_domain:PF05466	brain abundant, membrane attached signal protein				ENSP00000319281		2-Feb									COSM2149274	2-Feb	.		ENST00000322611	Transcript			glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding	ENSG00000176788	g.chr5:17275409C>T	957			LOW								--	--	1																																			1	1			p.G28G	NM_006317	NP_006308			1	BASP1_HUMAN	BASP1	HGNC	P80723	BASP1_HUMAN			U3KQP0_HUMAN		2	263	+			UPI0000140E98	28					SNV	BASP1,synonymous_variant,p.=,ENST00000322611,NM_006317.4,NM_001271606.1;BASP1,synonymous_variant,p.=,ENST00000606445,;	uc003jfx.2	c.84C>T	344/1878	1	1			c.84C>T						5	SNP	c.(82-84)GGC>GGT	4	4				0	Broad	brain abundant, membrane attached signal protein			17275409		0.627	ENSG00000176788	1286	g.chr5:17275409C>T	glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding							27.814485	KEEP	6	5	-1	16	19	6	5	-1	30.484089	16	19	0.244444	1	0	0	0	0	0	0	1	0	--	--		0	T				11	GBM-06-0124-TP	p.G28G	C	AGGCCGAGGGCGCGGCGACGG	NM_006317	NP_006308	17275409	P80723	BASP1_HUMAN	0			2	263	+	T	T			Silent	28						
BASP1	10409	broad.mit.edu	GRCh37	5	17275820	17275820	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2565-01	TCGA-06-2565-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322611.3:c.495C>T	p.Asp165=	p.D165=	ENST00000322611	NM_006317.4	165	gaC/gaT	0		T:0	1	T:0		T	D	uc003jfx.2	protein_coding	YES	CCDS3888.1			495/684										0	c.(493-495)GAC>GAT			hmmpanther:PTHR23212:SF0,hmmpanther:PTHR23212,Pfam_domain:PF05466	brain abundant, membrane attached signal protein		T:0.002		ENSP00000319281	T:0	2-Feb	0.000333			0.00818					rs370758278,COSM2152986	2-Feb	common_variant		ENST00000322611	Transcript		T:0.0004	glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding	ENSG00000176788	g.chr5:17275820C>T	957			LOW								--	--	1																																			0,1	1			p.D165D	NM_006317	NP_006308	T:0		0,1	BASP1_HUMAN	BASP1	HGNC	P80723	BASP1_HUMAN			U3KQP0_HUMAN		2	674	+			UPI0000140E98	165					SNV	BASP1,synonymous_variant,p.=,ENST00000322611,NM_006317.4,NM_001271606.1;BASP1,downstream_gene_variant,,ENST00000606445,;	uc003jfx.2	c.495C>T	755/1878	2	2			c.495C>T						5	SNP	c.(493-495)GAC>GAT	17	17				0	Broad	brain abundant, membrane attached signal protein			17275820		0.582	ENSG00000176788	1286	g.chr5:17275820C>T	glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding							16.8456	KEEP	3	4	-1	6	9	3	4	-1	17.065235	6	9	0.375	1	0	0	0	0	0	0	1	0	--	--		0	T				88	GBM-06-2565-TP	p.D165D	C	CCAAAAGTGACGGGGCCCCAG	NM_006317	NP_006308	17275820	P80723	BASP1_HUMAN	0			2	674	+	T	T			Silent	165						
BASP1	0	broad.mit.edu	GRCh37	5	17275800	17275800	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322611.3:c.475G>A	p.Ala159Thr	p.A159T	ENST00000322611	NM_006317.4	159	Gcc/Acc	0			1			A	A/T	uc003jfx.2	protein_coding	YES	CCDS3888.1			475/684										0	c.(475-477)GCC>ACC			Low_complexity_(Seg):seg,hmmpanther:PTHR23212:SF0,hmmpanther:PTHR23212,Pfam_domain:PF05466	brain abundant, membrane attached signal protein				ENSP00000319281		2-Feb	2.52E-05		0.00156						rs769886249,COSM3410147	2-Feb	common_variant		ENST00000322611	Transcript			glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding	ENSG00000176788	g.chr5:17275800G>A	957			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=BASP1_HUMAN&rb=2&re=227&var=A159T	NA	getma.org/?cm=var&var=hg19,5,17275800,G,A&fts=all	A159T	--	--	1																																			0,1	1		unknown(0)	p.A159T	NM_006317	NP_006308		tolerated(0.15)	0,1	BASP1_HUMAN	BASP1	HGNC	P80723	BASP1_HUMAN			U3KQP0_HUMAN		2	654	+			UPI0000140E98	159					SNV	BASP1,missense_variant,p.Ala159Thr,ENST00000322611,NM_006317.4,NM_001271606.1;BASP1,downstream_gene_variant,,ENST00000606445,;	uc003jfx.2	c.475G>A	735/1878	2	2			c.475G>A						5	SNP	c.(475-477)GCC>ACC	25	25				0	Broad	brain abundant, membrane attached signal protein			17275800		0.522	ENSG00000176788	1286	g.chr5:17275800G>A	glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding							23.32713	KEEP	3	4	-1	3	2	3	4	-1	23.39995	3	2	0.583333	1	0	0	0	0	1	0	0	0	--	--		0	A				240	GBM-32-2632-TP	p.A159T	G	AGCTCCTGCCGCCCAGGAGAC	NM_006317	NP_006308	17275800	P80723	BASP1_HUMAN	0			2	654	+	A	A			Missense_Mutation	159						
BASP1	0	broad.mit.edu	GRCh37	5	17275370	17275370	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322611.3:c.45C>T	p.Asn15=	p.N15=	ENST00000322611	NM_006317.4	15	aaC/aaT	0			1			T	N	uc003jfx.2	protein_coding	YES	CCDS3888.1			45/684										0	c.(43-45)AAC>AAT			hmmpanther:PTHR23212:SF0,hmmpanther:PTHR23212,Pfam_domain:PF05466	brain abundant, membrane attached signal protein				ENSP00000319281		2-Feb									COSM3410146	2-Feb	.		ENST00000322611	Transcript			glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding	ENSG00000176788	g.chr5:17275370C>T	957			LOW								--	--	1																																			1	1			p.N15N	NM_006317	NP_006308			1	BASP1_HUMAN	BASP1	HGNC	P80723	BASP1_HUMAN			U3KQP0_HUMAN		2	224	+			UPI0000140E98	15					SNV	BASP1,synonymous_variant,p.=,ENST00000322611,NM_006317.4,NM_001271606.1;BASP1,synonymous_variant,p.=,ENST00000606445,;	uc003jfx.2	c.45C>T	305/1878	1	1			c.45C>T						5	SNP	c.(43-45)AAC>AAT	1	1				0	Broad	brain abundant, membrane attached signal protein			17275370		0.567	ENSG00000176788	1286	g.chr5:17275370C>T	glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding							46.08923	KEEP	10	6	-1	16	13	10	6	-1	46.439661	16	13	0.4	1	0	0	0	0	0	0	1	0	--	--		0	T				269	GBM-76-4929-TP	p.N15N	C	ACAATGTGAACGACGAGAAAG	NM_006317	NP_006308	17275370	P80723	BASP1_HUMAN	0			2	224	+	T	T			Silent	15						
BATF	0	broad.mit.edu	GRCh37	14	76012841	76012841	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4934-01	TCGA-76-4934-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286639.6:c.205C>T	p.Arg69Cys	p.R69C	ENST00000286639	NM_006399.3	69	Cgc/Tgc	0			1			T	R/C	uc001xrr.2	protein_coding	YES	CCDS9843.1			205/378									ovary(1)	1	c.(205-207)CGC>TGC			Gene3D:1.20.5.170,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00170,Prints_domain:PR00042,PROSITE_profiles:PS50217,hmmpanther:PTHR23351,hmmpanther:PTHR23351:SF14,SMART_domains:SM00338,Superfamily_domains:SSF57959	basic leucine zipper transcription factor,				ENSP00000286639		3-Mar									COSM3401476	3-Mar	.		ENST00000286639	Transcript				nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000156127	g.chr14:76012841C>T	958			MODERATE		2.565	medium	getma.org/?cm=msa&ty=f&p=BATF_HUMAN&rb=24&re=87&var=R69C	getma.org/pdb.php?prot=BATF_HUMAN&from=24&to=87&var=R69C	getma.org/?cm=var&var=hg19,14,76012841,C,T&fts=all	R69C	--	--	1																																			1	1		probably_damaging(0.999)	p.R69C	NM_006399	NP_006390		deleterious(0)	1	BATF_HUMAN	BATF	HGNC	Q16520	BATF_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.028)			3	447	+			UPI0000073D64	69			Leucine-zipper.		SNV	BATF,missense_variant,p.Arg69Cys,ENST00000286639,NM_006399.3;BATF,intron_variant,,ENST00000555504,;BATF,non_coding_transcript_exon_variant,,ENST00000555795,;	uc001xrr.2	c.205C>T	463/980	1	1			c.205C>T						14	SNP	c.(205-207)CGC>TGC	7	7			ovary(1)	1	Broad	basic leucine zipper transcription factor,			76012841		0.612	ENSG00000156127	1294	g.chr14:76012841C>T		nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							148.872157	KEEP	24	26	-1	8	14	24	26	-1	151.623562	8	14	0.71875	1	0	0	0	0	1	0	0	0	--	--		0	T				272	GBM-76-4934-TP	p.R69C	C	CGCGGCTCTACGCAAGGAGAT	NM_006399	NP_006390	76012841	Q16520	BATF_HUMAN	0		BRCA - Breast invasive adenocarcinoma(234;0.028)	3	447	+	T	T			Missense_Mutation	69			Leucine-zipper.			
BAZ1A	11177		GRCh37	14	35331298	35331298	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000360310.1:c.344G>A	p.Arg115Gln	p.R115Q	ENST00000360310	NM_013448.2	115	cGa/cAa	0																																																																																																																																																																																																																																												
BAZ2B	0	broad.mit.edu	GRCh37	2	160241783	160241783	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-1979-01	TCGA-32-1979-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392783.2:c.3569A>G	p.Gln1190Arg	p.Q1190R	ENST00000392783	NM_013450.2	1190	cAa/cGa	0			1			C	Q/R	uc002uao.2	protein_coding	YES	CCDS2209.2			3569/6507									ovary(3)|skin(1)	4	c.(3568-3570)CAA>CGA			hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF144	bromodomain adjacent to zinc finger domain, 2B				ENSP00000376534		23/37									COSM3406964	23/37	.		ENST00000392783	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	ENSG00000123636	g.chr2:160241783T>C	963			MODERATE		0.64	neutral	getma.org/?cm=msa&ty=f&p=BAZ2B_HUMAN&rb=1150&re=1295&var=Q1190R	NA	getma.org/?cm=var&var=hg19,2,160241783,T,C&fts=all	Q1190R	--	--	1																																		BAZ2B_uc002uap.2_Missense_Mutation_p.Q1154R	1	1		possibly_damaging(0.468)	p.Q1190R	NM_013450	NP_038478			1	BAZ2B_HUMAN	BAZ2B	HGNC	Q9UIF8	BAZ2B_HUMAN			Q8NC87_HUMAN,Q53TG3_HUMAN,C9JCA6_HUMAN		23	3921	-			UPI0000D74C4A	1190					SNV	BAZ2B,missense_variant,p.Gln1190Arg,ENST00000392783,NM_013450.2;BAZ2B,missense_variant,p.Gln1154Arg,ENST00000392782,;BAZ2B,missense_variant,p.Gln1156Arg,ENST00000355831,;BAZ2B,missense_variant,p.Gln1090Arg,ENST00000343439,;BAZ2B,downstream_gene_variant,,ENST00000294905,;AC008277.1,upstream_gene_variant,,ENST00000420020,;BAZ2B,non_coding_transcript_exon_variant,,ENST00000551504,;BAZ2B,downstream_gene_variant,,ENST00000485917,;	uc002uao.2	c.3569A>G	4065/8289	3	3			c.3569A>G						2	SNP	c.(3568-3570)CAA>CGA	1	1			ovary(3)|skin(1)	4	Broad	bromodomain adjacent to zinc finger domain, 2B			160241783		0.438	ENSG00000123636	1301	g.chr2:160241783T>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding							8.887582	KEEP	2	2	-1	4	12	2	2	-1	10.56353	4	12	0.2	1	0	0	0	0	1	0	0	0	--	--		0	C			BAZ2B_uc002uap.2_Missense_Mutation_p.Q1154R	230	GBM-32-1979-TP	p.Q1190R	T	AAGCTCAGTTTGTCCACAGTG	NM_013450	NP_038478	160241783	Q9UIF8	BAZ2B_HUMAN	0			23	3921	-	C	C			Missense_Mutation	1190						
BBOX1	0	broad.mit.edu	GRCh37	11	27114719	27114719	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-4097-01	TCGA-41-4097-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263182.3:c.339C>T	p.Cys113=	p.C113=	ENST00000263182	NM_003986.2	113	tgC/tgT	0			1			T	C	uc001mre.1	protein_coding	YES	CCDS7862.1			339/1164									ovary(1)	1	c.(337-339)TGC>TGT			hmmpanther:PTHR10696,hmmpanther:PTHR10696:SF20,TIGRFAM_domain:TIGR02409,Superfamily_domains:SSF51197	gamma-butyrobetaine dioxygenase	Succinic acid(DB00139)|Vitamin C(DB00126)			ENSP00000263182		9-May									COSM3397625	9-May	.		ENST00000263182	Transcript			carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	ENSG00000129151	g.chr11:27114719C>T	964			LOW								--	--	1																																		BBOX1_uc009yih.1_Silent_p.C113C|BBOX1_uc001mrg.1_Silent_p.C113C	1	1			p.C113C	NM_003986	NP_003977			1	BODG_HUMAN	BBOX1	HGNC	O75936	BODG_HUMAN			Q1KLS6_HUMAN,E9PKC9_HUMAN		5	707	+			UPI0000126A4C	113					SNV	BBOX1,synonymous_variant,p.=,ENST00000263182,NM_003986.2;BBOX1,synonymous_variant,p.=,ENST00000529202,;BBOX1,synonymous_variant,p.=,ENST00000528583,;BBOX1,synonymous_variant,p.=,ENST00000525090,;RP11-1L12.3,intron_variant,,ENST00000530430,;RP11-1L12.3,intron_variant,,ENST00000525302,;RP11-1L12.3,intron_variant,,ENST00000526061,;BBOX1,intron_variant,,ENST00000527505,;	uc001mre.1	c.339C>T	707/1886	2	2			c.339C>T						11	SNP	c.(337-339)TGC>TGT	30	30			ovary(1)	1	Broad	gamma-butyrobetaine dioxygenase		Succinic acid(DB00139)|Vitamin C(DB00126)	27114719		0.393	ENSG00000129151	1302	g.chr11:27114719C>T	carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding							-12.280674	KEEP	1	4	-1	49	45	1	4	-1	7.151375	49	45	0.045455	1	0	0	0	0	0	0	1	0	--	--		0	T			BBOX1_uc009yih.1_Silent_p.C113C|BBOX1_uc001mrg.1_Silent_p.C113C	257	GBM-41-4097-TP	p.C113C	C	TCACAGAATGCCAATACTGGG	NM_003986	NP_003977	27114719	O75936	BODG_HUMAN	0			5	707	+	T	T			Silent	113						
BBS12	166379	broad.mit.edu	GRCh37	4	123665161	123665161	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01	TCGA-06-5413-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000542236.1:c.2114C>T	p.Thr705Met	p.T705M	ENST00000542236	NM_001178007.1	705	aCg/aTg	0	T:0.0002		1			T	T/M	uc003ieu.2	protein_coding		CCDS3728.1			2114/2133									ovary(2)	2	c.(2113-2115)ACG>ATG				Bardet-Biedl syndrome 12			T:0.0002	ENSP00000319062		2-Feb	4.94E-05	0.000102	8.64E-05			6.03E-05			rs372102223,COSM2153208	2-Feb	.	Bardet-Biedl_syndrome	ENST00000314218	Transcript	1		cellular protein metabolic process	cilium	ATP binding	ENSG00000181004	g.chr4:123665161C>T	26648			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=BBS12_HUMAN&rb=664&re=710&var=T705M	NA	getma.org/?cm=var&var=hg19,4,123665161,C,T&fts=all	T705M	--	--	1																																			0,1			benign(0.121)	p.T705M	NM_152618	NP_689831		deleterious(0.02)	0,1	BBS12_HUMAN	BBS12	HGNC	Q6ZW61	BBS12_HUMAN			C9J8H7_HUMAN		2	2307	+			UPI0000231CAC	705					SNV	BBS12,missense_variant,p.Thr705Met,ENST00000542236,NM_001178007.1;BBS12,missense_variant,p.Thr705Met,ENST00000314218,NM_152618.2;BBS12,downstream_gene_variant,,ENST00000433287,;	uc003ieu.2	c.2114C>T	2307/3244	2	2			c.2114C>T						4	SNP	c.(2113-2115)ACG>ATG	45	45			ovary(2)	2	Broad	Bardet-Biedl syndrome 12			123665161	Bardet-Biedl_syndrome	0.348	ENSG00000181004	1305	g.chr4:123665161C>T	cellular protein metabolic process	cilium	ATP binding							83.015217	KEEP	18	14	-1	49	43	18	14	-1	87.806539	49	43	0.277778	1	0	0	0	0	1	0	0	0	--	--		0	T				96	GBM-06-5413-TP	p.T705M	C	CAGGAATTAACGGGCTTTCTA	NM_152618	NP_689831	123665161	Q6ZW61	BBS12_HUMAN	0			2	2307	+	T	T			Missense_Mutation	705						
BBS9	27241	broad.mit.edu	GRCh37	7	33397475	33397475	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0174-01	TCGA-06-0174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000242067.6:c.1561C>T	p.Arg521Ter	p.R521*	ENST00000242067	NM_198428.2	521	Cga/Tga	0			1			T	R/*	uc003tdn.1	protein_coding	YES	CCDS43566.1			1561/2664									ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5	c.(1561-1563)CGA>TGA			Pfam_domain:PF14728,hmmpanther:PTHR20991,hmmpanther:PTHR20991:SF0	parathyroid hormone-responsive B1 isoform 2				ENSP00000242067		16/23	8.24E-06					1.50E-05			rs748601675,COSM3411998,COSM3411997,COSM3411999	16/23	.	Bardet-Biedl_syndrome	ENST00000242067	Transcript	1		fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	ENSG00000122507	g.chr7:33397475C>T	30000			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,33397475,C,T&fts=all	R521*	--	--	1																																		BBS9_uc003tdo.1_Nonsense_Mutation_p.R486*|BBS9_uc003tdp.1_Nonsense_Mutation_p.R516*|BBS9_uc003tdq.1_Nonsense_Mutation_p.R481*|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Nonsense_Mutation_p.R45*|BBS9_uc003tds.1_5'UTR|BBS9_uc011kao.1_Nonsense_Mutation_p.R399*	0,1,1,1	1			p.R521*	NM_198428	NP_940820			0,1,1,1	PTHB1_HUMAN	BBS9	HGNC	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		C9JRR5_HUMAN,C9JJ08_HUMAN		16	2074	+			UPI000020ED57	521					SNV	BBS9,stop_gained,p.Arg521Ter,ENST00000242067,NM_198428.2;BBS9,stop_gained,p.Arg516Ter,ENST00000355070,NM_001033605.1;BBS9,stop_gained,p.Arg486Ter,ENST00000354265,;BBS9,stop_gained,p.Arg486Ter,ENST00000396127,NM_001033604.1;BBS9,stop_gained,p.Arg481Ter,ENST00000350941,NM_014451.3;BBS9,stop_gained,p.Arg88Ter,ENST00000434373,;BBS9,3_prime_UTR_variant,,ENST00000433714,;	uc003tdn.1	c.1561C>T	2082/4027	5	2			c.1561C>T						7	SNP	c.(1561-1563)CGA>TGA	18	18			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5	Broad	parathyroid hormone-responsive B1 isoform 2			33397475	Bardet-Biedl_syndrome	0.323	ENSG00000122507	1310	g.chr7:33397475C>T	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding							211.15568	KEEP	56	50	-1	152	144	56	50	-1	230.728964	152	144	0.247024	1	0	0	0	0	0	1	0	0	--	--		0	T			BBS9_uc003tdo.1_Nonsense_Mutation_p.R486*|BBS9_uc003tdp.1_Nonsense_Mutation_p.R516*|BBS9_uc003tdq.1_Nonsense_Mutation_p.R481*|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Nonsense_Mutation_p.R45*|BBS9_uc003tds.1_5'UTR|BBS9_uc011kao.1_Nonsense_Mutation_p.R399*	37	GBM-06-0174-TP	p.R521*	C	AGGCATTCCGCGAGTTATCCA	NM_198428	NP_940820	33397475	Q3SYG4	PTHB1_HUMAN	0	GBM - Glioblastoma multiforme(11;0.0894)		16	2074	+	T	T			Nonsense_Mutation	521						
BBS9	27241		GRCh37	7	33397475	33397475	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000242067.6:c.1561C>T	p.Arg521Ter	p.R521*	ENST00000242067	NM_198428.2	521	Cga/Tga	0																																																																																																																																																																																																																																												
BBX	56987	broad.mit.edu	GRCh37	3	107497367	107497367	+	splice_donor_variant	Splice_Site	SNP	G	G	T			TCGA-06-0190-01	TCGA-06-0190-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325805.8:c.2203+1G>T		p.X735_splice	ENST00000325805		735		0			1			T		uc010hpr.2	protein_coding	YES	CCDS46881.1			2203/2826									ovary(3)|skin(1)	4	c.e13+1				HMG-BOX transcription factor BBX isoform 1				ENSP00000319974											COSM3408093,COSM3408092		.		ENST00000325805	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	ENSG00000114439	g.chr3:107497367G>T	14422			HIGH	13/17							--	--	1																																		BBX_uc003dwk.3_Splice_Site_p.G735_splice|BBX_uc003dwl.3_Splice_Site_p.K398_splice|BBX_uc003dwm.3_Splice_Site_p.G735_splice|BBX_uc003dwo.3_Splice_Site_p.K84_splice	1,1	1			p.G735_splice	NM_001142568	NP_001136040			1,1	BBX_HUMAN	BBX	HGNC	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		Q9H6A7_HUMAN,C9K0D1_HUMAN,C9JZA0_HUMAN,C9JYU6_HUMAN,C9JSH4_HUMAN,C9JNU3_HUMAN,C9JIZ2_HUMAN,C9JE62_HUMAN,C9JC04_HUMAN,C9J8D0_HUMAN,C9J0J4_HUMAN,C9J067_HUMAN,C9IYS9_HUMAN		13	2530	+			UPI000007315E						SNV	BBX,splice_donor_variant,,ENST00000415149,NM_020235.6,NM_001142568.2;BBX,splice_donor_variant,,ENST00000402543,;BBX,splice_donor_variant,,ENST00000406780,;BBX,splice_donor_variant,,ENST00000325805,;BBX,splice_donor_variant,,ENST00000416476,NM_001276286.1;BBX,splice_donor_variant,,ENST00000443253,;BBX,splice_donor_variant,,ENST00000473542,;	uc010hpr.2	c.2203_splice	-/3517	5	2			c.2203_splice						3	SNP	c.e13+1	34	34			ovary(3)|skin(1)	4	Broad	HMG-BOX transcription factor BBX isoform 1			107497367		0.428	ENSG00000114439	1311	g.chr3:107497367G>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding							58.570087	KEEP	18	9	0.666666667	44	48	18	9	0.666666667	66.78794	44	48	0.212963	1	0	0	0	0	0	0	0	1	--	--		0	T			BBX_uc003dwk.3_Splice_Site_p.G735_splice|BBX_uc003dwl.3_Splice_Site_p.K398_splice|BBX_uc003dwm.3_Splice_Site_p.G735_splice|BBX_uc003dwo.3_Splice_Site_p.K84_splice	43	GBM-06-0190-TP	p.G735_splice	G	ACCAGCAAAGGTTAGGTGTGA	NM_001142568	NP_001136040	107497367	Q8WY36	BBX_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(3;0.112)		13	2530	+	T	T			Splice_Site							
BCAM	4059	broad.mit.edu	GRCh37	19	45322967	45322967	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0648-01	TCGA-06-0648-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000270233.6:c.1747C>T	p.Arg583Trp	p.R583W	ENST00000270233	NM_005581.4	583	Cgg/Tgg	0			1			T	R/W	uc002ozu.2	protein_coding	YES	CCDS12644.1			1747/1887									skin(1)	1	c.(1747-1749)CGG>TGG			hmmpanther:PTHR11973:SF15,hmmpanther:PTHR11973	basal cell adhesion molecule isoform 1				ENSP00000270233		13/15	0.000149		0.0001			8.92E-05		0.000902	rs750550926,COSM2151399	13/15	common_variant		ENST00000270233	Transcript	1		cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	ENSG00000187244	g.chr19:45322967C>T	6722			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=BCAM_HUMAN&rb=527&re=628&var=R583W	NA	getma.org/?cm=var&var=hg19,19,45322967,C,T&fts=all	R583W	--	--	1																																		BCAM_uc002ozt.1_Missense_Mutation_p.R583W	0,1	1		possibly_damaging(0.517)	p.R583W	NM_005581	NP_005572		deleterious(0.01)	0,1	BCAM_HUMAN	BCAM	HGNC	P50895	BCAM_HUMAN			A9YWT4_HUMAN		13	1791	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	UPI0000190806	583			Cytoplasmic (Potential).		SNV	BCAM,missense_variant,p.Arg583Trp,ENST00000589651,;BCAM,missense_variant,p.Arg583Trp,ENST00000270233,NM_005581.4,NM_001013257.2;BCAM,non_coding_transcript_exon_variant,,ENST00000588714,;BCAM,upstream_gene_variant,,ENST00000590624,;BCAM,downstream_gene_variant,,ENST00000589558,;BCAM,downstream_gene_variant,,ENST00000590196,;	uc002ozu.2	c.1747C>T	1769/2402	1	1			c.1747C>T						19	SNP	c.(1747-1749)CGG>TGG	4	4			skin(1)	1	Broad	basal cell adhesion molecule isoform 1			45322967		0.507	ENSG00000187244	1312	g.chr19:45322967C>T	cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity							81.287076	KEEP	15	20	-1	8	16	15	20	-1	82.301853	8	16	0.675676	1	0	0	0	0	1	0	0	0	--	--		0	T			BCAM_uc002ozt.1_Missense_Mutation_p.R583W	61	GBM-06-0648-TP	p.R583W	C	CCGCCAGCGGCGGGAGAAGGG	NM_005581	NP_005572	45322967	P50895	BCAM_HUMAN	0			13	1791	+	T	T	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	Missense_Mutation	583			Cytoplasmic (Potential).			
BCAM	0	broad.mit.edu	GRCh37	19	45322375	45322375	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-3915-01	TCGA-41-3915-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000270233.6:c.1399G>A	p.Asp467Asn	p.D467N	ENST00000270233	NM_005581.4	467	Gac/Aac	0			1			A	D/N	uc002ozu.2	protein_coding	YES	CCDS12644.1			1399/1887									skin(1)	1	c.(1399-1401)GAC>AAC			Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Gene3D:2.60.40.10,Pfam_domain:PF13927,hmmpanther:PTHR11973:SF15,hmmpanther:PTHR11973,PROSITE_profiles:PS50835	basal cell adhesion molecule isoform 1				ENSP00000270233		15-Nov									COSM3404374	15-Nov	.		ENST00000270233	Transcript	1		cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	ENSG00000187244	g.chr19:45322375G>A	6722			MODERATE		1.56	low	getma.org/?cm=msa&ty=f&p=BCAM_HUMAN&rb=456&re=526&var=D467N	NA	getma.org/?cm=var&var=hg19,19,45322375,G,A&fts=all	D467N	--	--	1																																		BCAM_uc002ozt.1_Missense_Mutation_p.D467N	1	1		possibly_damaging(0.828)	p.D467N	NM_005581	NP_005572		deleterious(0.01)	1	BCAM_HUMAN	BCAM	HGNC	P50895	BCAM_HUMAN			A9YWT4_HUMAN		11	1443	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	UPI0000190806	467			Extracellular (Potential).|Ig-like C2-type 3.		SNV	BCAM,missense_variant,p.Asp467Asn,ENST00000589651,;BCAM,missense_variant,p.Asp467Asn,ENST00000270233,NM_005581.4,NM_001013257.2;BCAM,downstream_gene_variant,,ENST00000591520,;BCAM,non_coding_transcript_exon_variant,,ENST00000589558,;BCAM,upstream_gene_variant,,ENST00000590624,;BCAM,upstream_gene_variant,,ENST00000588714,;BCAM,downstream_gene_variant,,ENST00000590196,;	uc002ozu.2	c.1399G>A	1421/2402	2	2			c.1399G>A						19	SNP	c.(1399-1401)GAC>AAC	20	20			skin(1)	1	Broad	basal cell adhesion molecule isoform 1			45322375		0.597	ENSG00000187244	1312	g.chr19:45322375G>A	cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity							249.032811	KEEP	49	48	-1	87	116	49	48	-1	257.372949	87	116	0.318021	1	0	0	0	0	1	0	0	0	--	--		0	A			BCAM_uc002ozt.1_Missense_Mutation_p.D467N	256	GBM-41-3915-TP	p.D467N	G	GAGGGAAGGAGACGAAGTCAC	NM_005581	NP_005572	45322375	P50895	BCAM_HUMAN	0			11	1443	+	A	A	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	Missense_Mutation	467			Extracellular (Potential).|Ig-like C2-type 3.			
BCAN	63827	broad.mit.edu	GRCh37	1	156617796	156617796	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0169-01	TCGA-06-0169-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329117.5:c.663A>G	p.Arg221=	p.R221=	ENST00000329117	NM_021948.4	221	cgA/cgG	0			1			G	R	uc001fpp.2	protein_coding	YES	CCDS1149.1			663/2736									ovary(1)|pancreas(1)	2	c.(661-663)CGA>CGG			Gene3D:3.10.100.10,Pfam_domain:PF00193,Prints_domain:PR01265,PROSITE_patterns:PS01241,PROSITE_profiles:PS50963,hmmpanther:PTHR22804,SMART_domains:SM00445,Superfamily_domains:SSF56436	brevican isoform 1				ENSP00000331210		14-May									COSM3399813,COSM3399814	14-May	.		ENST00000329117	Transcript			cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	ENSG00000132692	g.chr1:156617796A>G	23059			LOW								--	--	1																																		BCAN_uc001fpo.2_Silent_p.R221R	1,1	1			p.R221R	NM_021948	NP_068767			1,1	PGCB_HUMAN	BCAN	HGNC	Q96GW7	PGCB_HUMAN			Q9NT67_HUMAN,Q5T3I8_HUMAN,Q5T3I7_HUMAN,Q59F90_HUMAN		5	999	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		UPI000006F0E9	221			Link 1.		SNV	BCAN,synonymous_variant,p.=,ENST00000329117,NM_021948.4;BCAN,synonymous_variant,p.=,ENST00000361588,NM_198427.1;BCAN,synonymous_variant,p.=,ENST00000424639,;BCAN,downstream_gene_variant,,ENST00000457777,;BCAN,downstream_gene_variant,,ENST00000441358,;RP11-284F21.7,intron_variant,,ENST00000448869,;RP11-284F21.10,upstream_gene_variant,,ENST00000605886,;BCAN,missense_variant,p.Glu163Gly,ENST00000479949,;BCAN,3_prime_UTR_variant,,ENST00000491823,;	uc001fpp.2	c.663A>G	999/3466	3	3			c.663A>G						1	SNP	c.(661-663)CGA>CGG	8	8			ovary(1)|pancreas(1)	2	Broad	brevican isoform 1			156617796		0.532	ENSG00000132692	1313	g.chr1:156617796A>G	cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding							85.864455	KEEP	19	18	-1	75	80	19	18	-1	100.517705	75	80	0.195266	1	0	0	0	0	0	0	1	0	--	--		0	G			BCAN_uc001fpo.2_Silent_p.R221R	34	GBM-06-0169-TP	p.R221R	A	AGACCCCACGAGAGGCCTGTT	NM_021948	NP_068767	156617796	Q96GW7	PGCB_HUMAN	0			5	999	+	G	G	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		Silent	221			Link 1.			
BCAR3	0	broad.mit.edu	GRCh37	1	94032953	94032953	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01	TCGA-14-0790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260502.6:c.2182G>A	p.Asp728Asn	p.D728N	ENST00000260502	NM_003567.3	728	Gac/Aac	0			1			T	D/N	uc001dpz.2	protein_coding		CCDS745.1			2182/2478									ovary(1)|lung(1)|central_nervous_system(1)	3	c.(2182-2184)GAC>AAC			Superfamily_domains:0041591,PROSITE_profiles:PS50009,hmmpanther:PTHR14247,hmmpanther:PTHR14247:SF10,SMART_domains:SM00147	breast cancer antiestrogen resistance 3				ENSP00000260502		12-Nov	3.29E-05		0.000259					6.06E-05	rs759045700,COSM3401095,COSM3401096	12-Nov	.		ENST00000260502	Transcript			response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	ENSG00000137936	g.chr1:94032953C>T	973			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=BCAR3_HUMAN&rb=545&re=740&var=D728N	getma.org/pdb.php?prot=BCAR3_HUMAN&from=545&to=740&var=D728N	getma.org/?cm=var&var=hg19,1,94032953,C,T&fts=all	D728N	--	--	1																																		BCAR3_uc001dqa.2_Missense_Mutation_p.D728N|BCAR3_uc001dqb.2_Missense_Mutation_p.D728N|BCAR3_uc001dpx.3_Missense_Mutation_p.D404N|BCAR3_uc001dpy.2_Missense_Mutation_p.D637N	0,1,1			probably_damaging(0.999)	p.D728N	NM_003567	NP_003558		deleterious(0)	0,1,1	BCAR3_HUMAN	BCAR3	HGNC	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	B3KNL6_HUMAN		11	2457	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	UPI000000D971	728			Ras-GEF.		SNV	BCAR3,missense_variant,p.Asp728Asn,ENST00000370244,NM_001261408.1;BCAR3,missense_variant,p.Asp728Asn,ENST00000370243,NM_001261409.1;BCAR3,missense_variant,p.Asp728Asn,ENST00000260502,NM_003567.3;BCAR3,missense_variant,p.Asp637Asn,ENST00000370247,NM_001261410.1;BCAR3,missense_variant,p.Asp404Asn,ENST00000539242,;BCAR3,non_coding_transcript_exon_variant,,ENST00000538653,;	uc001dpz.2	c.2182G>A	2425/3171	1	1			c.2182G>A						1	SNP	c.(2182-2184)GAC>AAC	8	8			ovary(1)|lung(1)|central_nervous_system(1)	3	Broad	breast cancer antiestrogen resistance 3			94032953		0.512	ENSG00000137936	1317	g.chr1:94032953C>T	response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding							183.9144	KEEP	31	30	-1	43	35	31	30	-1	184.154927	43	35	0.453846	1	0	0	0	0	1	0	0	0	--	--		0	T			BCAR3_uc001dqa.2_Missense_Mutation_p.D728N|BCAR3_uc001dqb.2_Missense_Mutation_p.D728N|BCAR3_uc001dpx.3_Missense_Mutation_p.D404N|BCAR3_uc001dpy.2_Missense_Mutation_p.D637N	137	GBM-14-0790-TP	p.D728N	C	TCCCACATGTCGGTTCCTTCA	NM_003567	NP_003558	94032953	O75815	BCAR3_HUMAN	0		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	11	2457	-	T	T		all_lung(203;0.00145)|Lung NSC(277;0.00662)	Missense_Mutation	728			Ras-GEF.			
BCAR3	0	broad.mit.edu	GRCh37	1	94032964	94032964	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-5215-01	TCGA-28-5215-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260502.6:c.2171T>C	p.Phe724Ser	p.F724S	ENST00000260502	NM_003567.3	724	tTt/tCt	0			1			G	F/S	uc001dpz.2	protein_coding		CCDS745.1			2171/2478									ovary(1)|lung(1)|central_nervous_system(1)	3	c.(2170-2172)TTT>TCT			Superfamily_domains:0041591,PROSITE_profiles:PS50009,hmmpanther:PTHR14247,hmmpanther:PTHR14247:SF10,SMART_domains:SM00147	breast cancer antiestrogen resistance 3				ENSP00000260502		12-Nov									COSM3401097,COSM3401098	12-Nov	.		ENST00000260502	Transcript			response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	ENSG00000137936	g.chr1:94032964A>G	973			MODERATE		1.6	low	getma.org/?cm=msa&ty=f&p=BCAR3_HUMAN&rb=545&re=740&var=F724S	getma.org/pdb.php?prot=BCAR3_HUMAN&from=545&to=740&var=F724S	getma.org/?cm=var&var=hg19,1,94032964,A,G&fts=all	F724S	--	--	1																																		BCAR3_uc001dqa.2_Missense_Mutation_p.F724S|BCAR3_uc001dqb.2_Missense_Mutation_p.F724S|BCAR3_uc001dpx.3_Missense_Mutation_p.F400S|BCAR3_uc001dpy.2_Missense_Mutation_p.F633S	1,1			probably_damaging(0.937)	p.F724S	NM_003567	NP_003558		tolerated(0.53)	1,1	BCAR3_HUMAN	BCAR3	HGNC	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	B3KNL6_HUMAN		11	2446	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	UPI000000D971	724			Ras-GEF.		SNV	BCAR3,missense_variant,p.Phe724Ser,ENST00000370244,NM_001261408.1;BCAR3,missense_variant,p.Phe724Ser,ENST00000370243,NM_001261409.1;BCAR3,missense_variant,p.Phe724Ser,ENST00000260502,NM_003567.3;BCAR3,missense_variant,p.Phe633Ser,ENST00000370247,NM_001261410.1;BCAR3,missense_variant,p.Phe400Ser,ENST00000539242,;BCAR3,non_coding_transcript_exon_variant,,ENST00000538653,;	uc001dpz.2	c.2171T>C	2414/3171	3	3			c.2171T>C						1	SNP	c.(2170-2172)TTT>TCT	56	56			ovary(1)|lung(1)|central_nervous_system(1)	3	Broad	breast cancer antiestrogen resistance 3			94032964		0.502	ENSG00000137936	1317	g.chr1:94032964A>G	response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding							213.03183	KEEP	36	31	-1	48	49	36	31	-1	213.945328	48	49	0.416107	1	0	0	0	0	1	0	0	0	--	--		0	G			BCAR3_uc001dqa.2_Missense_Mutation_p.F724S|BCAR3_uc001dqb.2_Missense_Mutation_p.F724S|BCAR3_uc001dpx.3_Missense_Mutation_p.F400S|BCAR3_uc001dpy.2_Missense_Mutation_p.F633S	222	GBM-28-5215-TP	p.F724S	A	GGTTCCTTCAAAAGTCACAGC	NM_003567	NP_003558	94032964	O75815	BCAR3_HUMAN	0		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	11	2446	-	G	G		all_lung(203;0.00145)|Lung NSC(277;0.00662)	Missense_Mutation	724			Ras-GEF.			
BCAS1	0	broad.mit.edu	GRCh37	20	52570143	52570143	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-14-0740-01	TCGA-14-0740-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395961.3:c.1508A>G	p.Lys503Arg	p.K503R	ENST00000395961	NM_003657.2	503	aAg/aGg	0	C:0		1			C	K/R	uc002xws.2	protein_coding	YES	CCDS13444.1			1508/1755									ovary(2)|central_nervous_system(1)	3	c.(1507-1509)AAG>AGG			Low_complexity_(Seg):seg,hmmpanther:PTHR15016	breast carcinoma amplified sequence 1			C:0.0001	ENSP00000379290		12-Nov	8.24E-06					1.50E-05			rs372161022,COSM3405213,COSM3405214	12-Nov	.		ENST00000395961	Transcript				cytoplasm	protein binding	ENSG00000064787	g.chr20:52570143T>C	974			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=BCAS1_HUMAN&rb=1&re=582&var=K503R	NA	getma.org/?cm=var&var=hg19,20,52570143,T,C&fts=all	K503R	--	--	1																																		BCAS1_uc010zza.1_Missense_Mutation_p.K169R|BCAS1_uc010zzb.1_Missense_Mutation_p.K429R|BCAS1_uc010gim.2_Missense_Mutation_p.K359R|BCAS1_uc002xwt.2_Missense_Mutation_p.K489R|BCAS1_uc010gil.1_Missense_Mutation_p.K425R	0,1,1	1		possibly_damaging(0.449)	p.K503R	NM_003657	NP_003648		deleterious(0.03)	0,1,1	BCAS1_HUMAN	BCAS1	HGNC	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)				11	1846	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		UPI000013D2E2	503					SNV	BCAS1,missense_variant,p.Lys374Arg,ENST00000448484,;BCAS1,missense_variant,p.Lys503Arg,ENST00000395961,NM_003657.2;BCAS1,missense_variant,p.Lys425Arg,ENST00000371435,;BCAS1,missense_variant,p.Lys512Arg,ENST00000371440,;BCAS1,missense_variant,p.Lys169Arg,ENST00000434986,;BCAS1,missense_variant,p.Lys166Arg,ENST00000422805,;	uc002xws.2	c.1508A>G	1675/3303	3	3			c.1508A>G						20	SNP	c.(1507-1509)AAG>AGG	62	62			ovary(2)|central_nervous_system(1)	3	Broad	breast carcinoma amplified sequence 1			52570143		0.537	ENSG00000064787	1318	g.chr20:52570143T>C		cytoplasm	protein binding							110.97365	KEEP	25	14	-1	69	42	25	14	-1	117.756204	69	42	0.264706	1	0	0	0	0	1	0	0	0	--	--		0	C			BCAS1_uc010zza.1_Missense_Mutation_p.K169R|BCAS1_uc010zzb.1_Missense_Mutation_p.K429R|BCAS1_uc010gim.2_Missense_Mutation_p.K359R|BCAS1_uc002xwt.2_Missense_Mutation_p.K489R|BCAS1_uc010gil.1_Missense_Mutation_p.K425R	132	GBM-14-0740-TP	p.K503R	T	TGCTGACTTCTTGTCCTTCGA	NM_003657	NP_003648	52570143	O75363	BCAS1_HUMAN	0	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		11	1846	-	C	C	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		Missense_Mutation	503						
BCAS3	0	broad.mit.edu	GRCh37	17	58756885	58756885	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01	TCGA-28-2502-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000390652.5:c.67C>T	p.Arg23Cys	p.R23C	ENST00000390652	NM_001099432.1	23	Cgc/Tgc	0			1			T	R/C	uc002iyv.3	protein_coding	YES	CCDS45749.1			67/2787									ovary(2)|central_nervous_system(2)|skin(1)	5	c.(67-69)CGC>TGC			hmmpanther:PTHR13268	breast carcinoma amplified sequence 3 isoform 1				ENSP00000375067		25-Feb	8.28E-06					1.50E-05			rs751704466,COSM3748021,COSM3748022	25-Feb	.		ENST00000390652	Transcript				nucleus		ENSG00000141376	g.chr17:58756885C>T	14347			MODERATE		1.65	low	getma.org/?cm=msa&ty=f&p=BCAS3_HUMAN&rb=1&re=200&var=R23C	NA	getma.org/?cm=var&var=hg19,17,58756885,C,T&fts=all	R23C	--	--	1																																		BCAS3_uc010wow.1_Missense_Mutation_p.R19C|BCAS3_uc002iyu.3_Missense_Mutation_p.R23C|BCAS3_uc002iyw.3_Missense_Mutation_p.R19C	0,1,1	1		probably_damaging(0.998)	p.R23C	NM_001099432	NP_001092902		tolerated(0.1)	0,1,1	BCAS3_HUMAN	BCAS3	HGNC	Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		K7ESE9_HUMAN,K7EML5_HUMAN,K7EKB0_HUMAN,K7EJU7_HUMAN,K7EJH7_HUMAN		2	176	+			UPI00001AE949	23					SNV	BCAS3,missense_variant,p.Arg23Cys,ENST00000589222,;BCAS3,missense_variant,p.Arg23Cys,ENST00000588462,;BCAS3,missense_variant,p.Arg23Cys,ENST00000390652,NM_001099432.1;BCAS3,missense_variant,p.Arg23Cys,ENST00000408905,;BCAS3,missense_variant,p.Arg23Cys,ENST00000407086,NM_017679.3;BCAS3,missense_variant,p.Arg23Cys,ENST00000588168,;BCAS3,non_coding_transcript_exon_variant,,ENST00000593004,;BCAS3,non_coding_transcript_exon_variant,,ENST00000592393,;BCAS3,non_coding_transcript_exon_variant,,ENST00000591371,;BCAS3,missense_variant,p.Arg23Cys,ENST00000592848,;BCAS3,missense_variant,p.Arg23Cys,ENST00000588532,;BCAS3,missense_variant,p.Arg23Cys,ENST00000591147,;BCAS3,missense_variant,p.Arg23Cys,ENST00000586241,;BCAS3,non_coding_transcript_exon_variant,,ENST00000589916,;	uc002iyv.3	c.67C>T	98/3531	1	1			c.67C>T						17	SNP	c.(67-69)CGC>TGC	12	12			ovary(2)|central_nervous_system(2)|skin(1)	5	Broad	breast carcinoma amplified sequence 3 isoform 1			58756885		0.383	ENSG00000141376	1320	g.chr17:58756885C>T		nucleus								-94.490801	KEEP	5	2	-1	213	217	5	2	-1	11.334165	213	217	0.01737	1	0	0	0	0	1	0	0	0	--	--		0	T			BCAS3_uc010wow.1_Missense_Mutation_p.R19C|BCAS3_uc002iyu.3_Missense_Mutation_p.R23C|BCAS3_uc002iyw.3_Missense_Mutation_p.R19C	210	GBM-28-2502-TP	p.R23C	C	AGTTGTGGTTCGCCCCCAGGC	NM_001099432	NP_001092902	58756885	Q9H6U6	BCAS3_HUMAN	0	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		2	176	+	T	T			Missense_Mutation	23						
BCAT1	586	broad.mit.edu	GRCh37	12	25047326	25047326	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0216-01	TCGA-06-0216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000539282.1:c.198G>A	p.Thr66=	p.T66=	ENST00000539282	NM_001178093.1	66	acG/acA	0	T:0.0003		1			T	T	uc001rgd.3	protein_coding		CCDS44845.1			162/1161									lung(1)|breast(1)	2	c.(160-162)ACG>ACA			Gene3D:3.30.470.10,PIRSF_domain:PIRSF006468,hmmpanther:PTHR11825,hmmpanther:PTHR11825:SF29,Superfamily_domains:SSF56752	branched chain aminotransferase 1, cytosolic	Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)		T:0.0001	ENSP00000261192		11-Mar	4.14E-05					8.67E-05			rs372121259,COSM2150936	11-Mar	.		ENST00000261192	Transcript			branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	ENSG00000060982	g.chr12:25047326C>T	976			LOW								--	--	1																																		BCAT1_uc001rgc.2_Silent_p.T53T|BCAT1_uc010six.1_Silent_p.T66T|BCAT1_uc010siy.1_Silent_p.T54T|BCAT1_uc001rge.3_Silent_p.T30T	0,1				p.T54T	NM_005504	NP_005495			0,1	BCAT1_HUMAN	BCAT1	HGNC	P54687	BCAT1_HUMAN					3	604	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)		UPI0000213DBE	54					SNV	BCAT1,synonymous_variant,p.=,ENST00000261192,NM_005504.6,NM_001178091.1;BCAT1,synonymous_variant,p.=,ENST00000538118,NM_001178094.1;BCAT1,synonymous_variant,p.=,ENST00000342945,NM_001178092.1;BCAT1,synonymous_variant,p.=,ENST00000539282,NM_001178093.1;BCAT1,synonymous_variant,p.=,ENST00000539780,;BCAT1,synonymous_variant,p.=,ENST00000546285,;BCAT1,non_coding_transcript_exon_variant,,ENST00000544418,;	uc001rgd.3	c.162G>A	689/8335	2	2			c.162G>A						12	SNP	c.(160-162)ACG>ACA	21	21			lung(1)|breast(1)	2	Broad	branched chain aminotransferase 1, cytosolic		Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	25047326		0.453	ENSG00000060982	1322	g.chr12:25047326C>T	branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity							56.752298	KEEP	16	2	-1	9	7	16	2	-1	56.811755	9	7	0.545455	1	0	0	0	0	0	0	1	0	--	--		0	T			BCAT1_uc001rgc.2_Silent_p.T53T|BCAT1_uc010six.1_Silent_p.T66T|BCAT1_uc010siy.1_Silent_p.T54T|BCAT1_uc001rge.3_Silent_p.T30T	51	GBM-06-0216-TP	p.T54T	C	GCATATGATCCGTGAACACAG	NM_005504	NP_005495	25047326	P54687	BCAT1_HUMAN	0			3	604	-	T	T	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)		Silent	54						
BCDIN3D	144233	broad.mit.edu	GRCh37	12	50232500	50232500	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01	TCGA-06-0174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333924.4:c.533G>A	p.Gly178Asp	p.G178D	ENST00000333924	NM_181708.2	178	gGc/gAc	0			1			T	G/D	uc001rvh.2	protein_coding	YES	CCDS8790.1			533/879									ovary(1)	1	c.(532-534)GGC>GAC			Gene3D:3.40.50.150,Pfam_domain:PF06859,PROSITE_profiles:PS51515,hmmpanther:PTHR12315,hmmpanther:PTHR12315:SF1,Superfamily_domains:SSF53335	BCDIN3 domain containing				ENSP00000335201		2-Feb									COSM3398787	2-Feb	.		ENST00000333924	Transcript					methyltransferase activity	ENSG00000186666	g.chr12:50232500C>T	27050			MODERATE		3.285	medium	getma.org/?cm=msa&ty=f&p=BN3D2_HUMAN&rb=157&re=250&var=G178D	getma.org/pdb.php?prot=BN3D2_HUMAN&from=157&to=250&var=G178D	getma.org/?cm=var&var=hg19,12,50232500,C,T&fts=all	G178D	--	--	1																																OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	LOC100286844_uc010smm.1_Intron|LOC100286844_uc001rvg.2_RNA|LOC100286844_uc010smn.1_RNA	1	1		probably_damaging(1)	p.G178D	NM_181708	NP_859059		deleterious(0)	1	BN3D2_HUMAN	BCDIN3D	HGNC	Q7Z5W3	BN3D2_HUMAN					2	575	-			UPI0000160802	178			Bin3-type SAM.		SNV	BCDIN3D,missense_variant,p.Gly178Asp,ENST00000333924,NM_181708.2;BCDIN3D-AS1,non_coding_transcript_exon_variant,,ENST00000548872,;BCDIN3D-AS1,intron_variant,,ENST00000549124,;BCDIN3D,non_coding_transcript_exon_variant,,ENST00000550861,;	uc001rvh.2	c.533G>A	575/1502	2	2			c.533G>A						12	SNP	c.(532-534)GGC>GAC	45	45			ovary(1)	1	Broad	BCDIN3 domain containing			50232500		0.512	ENSG00000186666	1325	g.chr12:50232500C>T			methyltransferase activity							194.962191	KEEP	37	35	-1	27	42	37	35	-1	195.077367	27	42	0.532258	1	0	0	0	0	1	0	0	0	--	--		0	T	OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	LOC100286844_uc010smm.1_Intron|LOC100286844_uc001rvg.2_RNA|LOC100286844_uc010smn.1_RNA	37	GBM-06-0174-TP	p.G178D	C	CTCCCATAGGCCATGGTCTCC	NM_181708	NP_859059	50232500	Q7Z5W3	BN3D2_HUMAN	0			2	575	-	T	T			Missense_Mutation	178			Bin3-type SAM.			
BCHE	0	broad.mit.edu	GRCh37	3	165548715	165548715	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-2620-01	TCGA-19-2620-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264381.3:c.107C>A	p.Thr36Lys	p.T36K	ENST00000264381	NM_000055.2	36	aCa/aAa	0			1			T	T/K	uc003fem.3	protein_coding	YES	CCDS3198.1			107/1809									ovary(3)|pancreas(1)	4	c.(106-108)ACA>AAA			Superfamily_domains:SSF53474,Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559:SF154,hmmpanther:PTHR11559	butyrylcholinesterase precursor	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)			ENSP00000264381		4-Feb									COSM3408398	4-Feb	.		ENST00000264381	Transcript	1		choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	ENSG00000114200	g.chr3:165548715G>T	983			MODERATE		4.055	high	getma.org/?cm=msa&ty=f&p=CHLE_HUMAN&rb=9&re=550&var=T36K	getma.org/pdb.php?prot=CHLE_HUMAN&from=9&to=550&var=T36K	getma.org/?cm=var&var=hg19,3,165548715,G,T&fts=all	T36K	--	--	1																																		BCHE_uc003fen.3_Intron	1	1		probably_damaging(0.989)	p.T36K	NM_000055	NP_000046		deleterious(0)	1	CHLE_HUMAN	BCHE	HGNC	P06276	CHLE_HUMAN			Q96HL2_HUMAN,F8WF14_HUMAN,D3DNN4_HUMAN		2	267	-			UPI0000127866	36					SNV	BCHE,missense_variant,p.Thr36Lys,ENST00000264381,NM_000055.2;BCHE,intron_variant,,ENST00000488954,;BCHE,intron_variant,,ENST00000479451,;BCHE,intron_variant,,ENST00000540653,;BCHE,missense_variant,p.Thr36Lys,ENST00000482958,;BCHE,missense_variant,p.Thr36Lys,ENST00000497011,;	uc003fem.3	c.107C>A	274/2454	1	1			c.107C>A						3	SNP	c.(106-108)ACA>AAA	2	2			ovary(3)|pancreas(1)	4	Broad	butyrylcholinesterase precursor		Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	165548715		0.408	ENSG00000114200	1326	g.chr3:165548715G>T	choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding							80.299365	KEEP	12	16	0.428571429	29	25	12	16	0.428571429	82.168227	29	25	0.3375	1	0	0	0	0	1	0	0	0	--	--		0	T			BCHE_uc003fen.3_Intron	162	GBM-19-2620-TP	p.T36K	G	TCCATTCTTTGTTGCAATTAT	NM_000055	NP_000046	165548715	P06276	CHLE_HUMAN	0			2	267	-	T	T			Missense_Mutation	36						
BCHE	0	broad.mit.edu	GRCh37	3	165503999	165503999	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-5954-01	TCGA-19-5954-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264381.3:c.1618A>G	p.Thr540Ala	p.T540A	ENST00000264381	NM_000055.2	540	Acg/Gcg	0			1			C	T/A	uc003fem.3	protein_coding	YES	CCDS3198.1			1618/1809									ovary(3)|pancreas(1)	4	c.(1618-1620)ACG>GCG			Superfamily_domains:SSF53474,Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559:SF154,hmmpanther:PTHR11559	butyrylcholinesterase precursor	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)			ENSP00000264381		4-Mar									COSM2156775	4-Mar	.		ENST00000264381	Transcript	1		choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	ENSG00000114200	g.chr3:165503999T>C	983			MODERATE		0.825	low	getma.org/?cm=msa&ty=f&p=CHLE_HUMAN&rb=9&re=550&var=T540A	getma.org/pdb.php?prot=CHLE_HUMAN&from=9&to=550&var=T540A	getma.org/?cm=var&var=hg19,3,165503999,T,C&fts=all	T540A	--	--	1																																		BCHE_uc003fen.3_RNA	1	1		benign(0.005)	p.T540A	NM_000055	NP_000046		tolerated(0.73)	1	CHLE_HUMAN	BCHE	HGNC	P06276	CHLE_HUMAN			Q96HL2_HUMAN,F8WF14_HUMAN,D3DNN4_HUMAN		3	1778	-			UPI0000127866	540					SNV	BCHE,missense_variant,p.Thr540Ala,ENST00000264381,NM_000055.2;BCHE,missense_variant,p.Thr70Ala,ENST00000488954,;BCHE,missense_variant,p.Thr70Ala,ENST00000479451,;BCHE,missense_variant,p.Thr2Ala,ENST00000540653,;BCHE,missense_variant,p.Thr540Ala,ENST00000497011,;BCHE,3_prime_UTR_variant,,ENST00000482958,;	uc003fem.3	c.1618A>G	1785/2454	3	3			c.1618A>G						3	SNP	c.(1618-1620)ACG>GCG	52	52			ovary(3)|pancreas(1)	4	Broad	butyrylcholinesterase precursor		Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	165503999		0.363	ENSG00000114200	1326	g.chr3:165503999T>C	choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding							93.339998	KEEP	13	17	-1	27	19	13	17	-1	93.907706	27	19	0.4	1	0	0	0	0	1	0	0	0	--	--		0	C			BCHE_uc003fen.3_RNA	174	GBM-19-5954-TP	p.T540A	T	CGTAGTTTCGTCATTATTCTT	NM_000055	NP_000046	165503999	P06276	CHLE_HUMAN	0			3	1778	-	C	C			Missense_Mutation	540						
BCKDHB	0	broad.mit.edu	GRCh37	6	80881059	80881059	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-6695-01	TCGA-06-6695-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320393.6:c.694A>G	p.Lys232Glu	p.K232E	ENST00000320393	NM_183050.2	232	Aaa/Gaa	0			1			G	K/E	uc003pjd.2	protein_coding	YES	CCDS4994.1			694/1179										0	c.(694-696)AAA>GAA			hmmpanther:PTHR11624,hmmpanther:PTHR11624:SF21,Pfam_domain:PF02779,Gene3D:3.40.50.970,SMART_domains:SM00861,Superfamily_domains:SSF52518	branched chain keto acid dehydrogenase E1 beta				ENSP00000318351		10-Jun									COSM3411306	10-Jun	.		ENST00000320393	Transcript	1		branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding	ENSG00000083123	g.chr6:80881059A>G	987			MODERATE		0.04	neutral	getma.org/?cm=msa&ty=f&p=ODBB_HUMAN&rb=69&re=247&var=K232E	getma.org/pdb.php?prot=ODBB_HUMAN&from=69&to=247&var=K232E	getma.org/?cm=var&var=hg19,6,80881059,A,G&fts=all	K232E	--	--	1																																		BCKDHB_uc003pje.2_Missense_Mutation_p.K232E	1	1		benign(0.002)	p.K232E	NM_000056	NP_000047		tolerated(0.32)	1	ODBB_HUMAN	BCKDHB	HGNC	P21953	ODBB_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0291)	Q6LCK9_HUMAN,B7ZB80_HUMAN		6	761	+		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)	UPI0000001C97	232					SNV	BCKDHB,missense_variant,p.Lys232Glu,ENST00000320393,NM_183050.2;BCKDHB,missense_variant,p.Lys232Glu,ENST00000356489,NM_000056.3;BCKDHB,3_prime_UTR_variant,,ENST00000545529,;BCKDHB,downstream_gene_variant,,ENST00000369760,;	uc003pjd.2	c.694A>G	741/3692	3	3			c.694A>G						6	SNP	c.(694-696)AAA>GAA	10	10				0	Broad	branched chain keto acid dehydrogenase E1 beta			80881059		0.294	ENSG00000083123	1328	g.chr6:80881059A>G	branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding							88.219537	KEEP	16	13	-1	19	13	16	13	-1	88.318114	19	13	0.45283	1	0	0	0	0	1	0	0	0	--	--		0	G			BCKDHB_uc003pje.2_Missense_Mutation_p.K232E	110	GBM-06-6695-TP	p.K232E	A	CATAGAGGATAAAAATCCTTG	NM_000056	NP_000047	80881059	P21953	ODBB_HUMAN	0		BRCA - Breast invasive adenocarcinoma(397;0.0291)	6	761	+	G	G		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)	Missense_Mutation	232						
BCKDHB	594		GRCh37	6	80838915	80838915	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000320393.6:c.312T>C	p.Phe104=	p.F104=	ENST00000320393	NM_183050.2	104	ttT/ttC	0																																																																																																																																																																																																																																												
BCL10	0	broad.mit.edu	GRCh37	1	85736511	85736511	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-32-2638-01	TCGA-32-2638-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370580.1:c.136delA	p.Ile46TyrfsTer24	p.I46Yfs*24	ENST00000370580	NM_003921.4	46	Ata/ta	0			1			-	I/X	uc001dkz.2	protein_coding	YES	CCDS704.1			136/702	T		IGH@		MALT	pathogenic			lung(2)	2	c.(136-138)ATAfs			Gene3D:1.10.533.10,Pfam_domain:PF00619,PROSITE_profiles:PS50209,Superfamily_domains:SSF47986	B-cell CLL/lymphoma 10				ENSP00000359612		3-Feb	0.000239	0.000491		0.000233	0.000152	0.000196			rs587776639,COSM391505	3-Feb	.		ENST00000370580	Transcript	1		apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding	ENSG00000142867	g.chr1:85736511delT	989			HIGH								--	--	1																																			1,1	1			p.I46fs	NM_003921	NP_003912			0,1	BCL10_HUMAN	BCL10	HGNC	O95999	BCL10_HUMAN		all cancers(265;0.0114)|Epithelial(280;0.0311)			3	841	-			UPI000012682F	46	I->A: Abolishes cell death-inducing capability.		CARD.		deletion	BCL10,frameshift_variant,p.Ile46TyrfsTer24,ENST00000370580,NM_003921.4;	uc001dkz.2	c.136delA	874/2819	5	5			c.136delA	T		IGH@		MALT	1	DEL	c.(136-138)ATAfs	50	50			lung(2)	2	Broad	B-cell CLL/lymphoma 10			85736511		0.343	ENSG00000142867	1330	g.chr1:85736511delT	apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding	NSCLC(34;993 1034 12176 32621 50182)		22	NSCLC(34;993 1034 12176 32621 50182)		22														0.03	1	1	0	1	0	0	0	0	0	--	--		0	-				242	GBM-32-2638-TP	p.I46fs	T	CTACTGAGTATTTTTTTTGCA	NM_003921	NP_003912	85736511	O95999	BCL10_HUMAN	0		all cancers(265;0.0114)|Epithelial(280;0.0311)	3	841	-	-	-			Frame_Shift_Del	46	I->A: Abolishes cell death-inducing capability.		CARD.			
BCL11A	53335	broad.mit.edu	GRCh37	2	60688972	60688972	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-5856-01	TCGA-06-5856-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335712.6:c.1075C>G	p.Pro359Ala	p.P359A	ENST00000335712	NM_022893.3	359	Ccc/Gcc	0			1			C	P/A	uc002sae.1	protein_coding	YES	CCDS1862.1			1075/2508	T		IGH@		B-CLL				central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13	c.(1075-1077)CCC>GCC			hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF43,Low_complexity_(Seg):seg	B-cell CLL/lymphoma 11A isoform 1				ENSP00000338774		4-Apr									COSM3407923,COSM3407924	4-Apr	.		ENST00000335712	Transcript	1		negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	ENSG00000119866	g.chr2:60688972G>C	13221			MODERATE		1.555	low	getma.org/?cm=msa&ty=f&p=BC11A_HUMAN&rb=274&re=390&var=P359A	NA	getma.org/?cm=var&var=hg19,2,60688972,G,C&fts=all	P359A	--	--	1																																		BCL11A_uc002sab.2_Missense_Mutation_p.P359A|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Missense_Mutation_p.P325A|BCL11A_uc002sad.1_Missense_Mutation_p.P207A|BCL11A_uc002saf.1_Missense_Mutation_p.P325A	1,1	1		probably_damaging(0.991)	p.P359A	NM_022893	NP_075044		tolerated(0.07)	1,1	BC11A_HUMAN	BCL11A	HGNC	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		D6W5D9_HUMAN,Q53TS1_HUMAN,Q53TE8_HUMAN		4	1303	-			UPI000013DC00	359			Pro-rich.		SNV	BCL11A,missense_variant,p.Pro359Ala,ENST00000335712,NM_022893.3;BCL11A,missense_variant,p.Pro359Ala,ENST00000356842,NM_018014.3;BCL11A,missense_variant,p.Pro325Ala,ENST00000358510,;BCL11A,missense_variant,p.Pro325Ala,ENST00000538214,;BCL11A,intron_variant,,ENST00000359629,NM_138559.1;BCL11A,intron_variant,,ENST00000537768,;BCL11A,non_coding_transcript_exon_variant,,ENST00000477659,;BCL11A,intron_variant,,ENST00000489516,;BCL11A,intron_variant,,ENST00000492272,;BCL11A,upstream_gene_variant,,ENST00000479026,;	uc002sae.1	c.1075C>G	1303/5942	3	3			c.1075C>G	T		IGH@		B-CLL	2	SNP	c.(1075-1077)CCC>GCC	63	63			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13	Broad	B-cell CLL/lymphoma 11A isoform 1			60688972		0.632	ENSG00000119866	1331	g.chr2:60688972G>C	negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			131			131	48.258308	KEEP	13	11	-1	44	51	13	11	-1	56.687796	44	51	0.211009	1	0	0	0	0	1	0	0	0	--	--		0	C			BCL11A_uc002sab.2_Missense_Mutation_p.P359A|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Missense_Mutation_p.P325A|BCL11A_uc002sad.1_Missense_Mutation_p.P207A|BCL11A_uc002saf.1_Missense_Mutation_p.P325A	101	GBM-06-5856-TP	p.P359A	G	GGAGGGAGGGGGGGCGTCGCC	NM_022893	NP_075044	60688972	Q9H165	BC11A_HUMAN	0	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1303	-	C	C			Missense_Mutation	359			Pro-rich.			
BCL11A	53335	broad.mit.edu	GRCh37	2	60688423	60688423	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01	TCGA-06-5859-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335712.6:c.1624G>A	p.Ala542Thr	p.A542T	ENST00000335712	NM_022893.3	542	Gcc/Acc	0			1			T	A/T	uc002sae.1	protein_coding	YES	CCDS1862.1			1624/2508	T		IGH@		B-CLL				central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13	c.(1624-1626)GCC>ACC			hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF43	B-cell CLL/lymphoma 11A isoform 1				ENSP00000338774		4-Apr									COSM2153372,COSM2153373	4-Apr	.		ENST00000335712	Transcript	1		negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	ENSG00000119866	g.chr2:60688423C>T	13221			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=BC11A_HUMAN&rb=417&re=616&var=A542T	NA	getma.org/?cm=var&var=hg19,2,60688423,C,T&fts=all	A542T	--	--	1																																		BCL11A_uc002sab.2_Missense_Mutation_p.A542T|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.A211T|BCL11A_uc010ypj.1_Missense_Mutation_p.A508T|BCL11A_uc002sad.1_Missense_Mutation_p.A390T|BCL11A_uc002saf.1_Missense_Mutation_p.A508T	1,1	1		possibly_damaging(0.499)	p.A542T	NM_022893	NP_075044		tolerated(0.52)	1,1	BC11A_HUMAN	BCL11A	HGNC	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		D6W5D9_HUMAN,Q53TS1_HUMAN,Q53TE8_HUMAN		4	1852	-			UPI000013DC00	542					SNV	BCL11A,missense_variant,p.Ala542Thr,ENST00000335712,NM_022893.3;BCL11A,missense_variant,p.Ala542Thr,ENST00000356842,NM_018014.3;BCL11A,missense_variant,p.Ala508Thr,ENST00000358510,;BCL11A,missense_variant,p.Ala508Thr,ENST00000538214,;BCL11A,missense_variant,p.Ala211Thr,ENST00000537768,;BCL11A,intron_variant,,ENST00000359629,NM_138559.1;BCL11A,non_coding_transcript_exon_variant,,ENST00000477659,;BCL11A,intron_variant,,ENST00000489516,;BCL11A,intron_variant,,ENST00000492272,;BCL11A,upstream_gene_variant,,ENST00000479026,;	uc002sae.1	c.1624G>A	1852/5942	2	2			c.1624G>A	T		IGH@		B-CLL	2	SNP	c.(1624-1626)GCC>ACC	26	26			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13	Broad	B-cell CLL/lymphoma 11A isoform 1			60688423		0.701	ENSG00000119866	1331	g.chr2:60688423C>T	negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			131			131	26.255209	KEEP	5	6	-1	11	12	5	6	-1	27.247645	11	12	0.3125	1	0	0	0	0	1	0	0	0	--	--		0	T			BCL11A_uc002sab.2_Missense_Mutation_p.A542T|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.A211T|BCL11A_uc010ypj.1_Missense_Mutation_p.A508T|BCL11A_uc002sad.1_Missense_Mutation_p.A390T|BCL11A_uc002saf.1_Missense_Mutation_p.A508T	103	GBM-06-5859-TP	p.A542T	C	TCGGGCAGGGCGCGGCTCTCG	NM_022893	NP_075044	60688423	Q9H165	BC11A_HUMAN	0	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1852	-	T	T			Missense_Mutation	542						
BCL11A	0	broad.mit.edu	GRCh37	2	60688453	60688453	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01	TCGA-16-0846-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335712.6:c.1594G>A	p.Ala532Thr	p.A532T	ENST00000335712	NM_022893.3	532	Gcg/Acg	0			1			T	A/T	uc002sae.1	protein_coding	YES	CCDS1862.1			1594/2508	T		IGH@		B-CLL				central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13	c.(1594-1596)GCG>ACG			hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF43	B-cell CLL/lymphoma 11A isoform 1				ENSP00000338774		4-Apr	1.67E-05					1.97E-05		7.22E-05	rs765532161,COSM3407921,COSM3407922	4-Apr	.		ENST00000335712	Transcript	1		negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	ENSG00000119866	g.chr2:60688453C>T	13221			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=BC11A_HUMAN&rb=417&re=616&var=A532T	NA	getma.org/?cm=var&var=hg19,2,60688453,C,T&fts=all	A532T	--	--	1																																		BCL11A_uc002sab.2_Missense_Mutation_p.A532T|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.A201T|BCL11A_uc010ypj.1_Missense_Mutation_p.A498T|BCL11A_uc002sad.1_Missense_Mutation_p.A380T|BCL11A_uc002saf.1_Missense_Mutation_p.A498T	0,1,1	1		possibly_damaging(0.499)	p.A532T	NM_022893	NP_075044		tolerated(0.59)	0,1,1	BC11A_HUMAN	BCL11A	HGNC	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		D6W5D9_HUMAN,Q53TS1_HUMAN,Q53TE8_HUMAN		4	1822	-			UPI000013DC00	532					SNV	BCL11A,missense_variant,p.Ala532Thr,ENST00000335712,NM_022893.3;BCL11A,missense_variant,p.Ala532Thr,ENST00000356842,NM_018014.3;BCL11A,missense_variant,p.Ala498Thr,ENST00000358510,;BCL11A,missense_variant,p.Ala498Thr,ENST00000538214,;BCL11A,missense_variant,p.Ala201Thr,ENST00000537768,;BCL11A,intron_variant,,ENST00000359629,NM_138559.1;BCL11A,non_coding_transcript_exon_variant,,ENST00000477659,;BCL11A,intron_variant,,ENST00000489516,;BCL11A,intron_variant,,ENST00000492272,;BCL11A,upstream_gene_variant,,ENST00000479026,;	uc002sae.1	c.1594G>A	1822/5942	2	2			c.1594G>A	T		IGH@		B-CLL	2	SNP	c.(1594-1596)GCG>ACG	35	35			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13	Broad	B-cell CLL/lymphoma 11A isoform 1			60688453		0.637	ENSG00000119866	1331	g.chr2:60688453C>T	negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			131			131	3.065437	KEEP	0	4	-1	11	15	0	4	-1	6.802853	11	15	0.115385	1	0	0	0	0	1	0	0	0	--	--		0	T			BCL11A_uc002sab.2_Missense_Mutation_p.A532T|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.A201T|BCL11A_uc010ypj.1_Missense_Mutation_p.A498T|BCL11A_uc002sad.1_Missense_Mutation_p.A380T|BCL11A_uc002saf.1_Missense_Mutation_p.A498T	155	GBM-16-0846-TP	p.A532T	C	CCCACGACCGCGCCCCGCGAG	NM_022893	NP_075044	60688453	Q9H165	BC11A_HUMAN	0	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1822	-	T	T			Missense_Mutation	532						
BCL11A	53335	broad.mit.edu	GRCh37	2	60679781	60679781	+	downstream_gene_variant	3'Flank	SNP	G	G	A			TCGA-06-2561-01	TCGA-06-2561-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.				ENST00000335712	NM_022893.3			0			1			A		uc002sab.2	protein_coding	YES	CCDS1862.1			-/2508	T		IGH@		B-CLL				central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13	c.(2251-2253)CGG>TGG	4552			B-cell CLL/lymphoma 11A isoform 2				ENSP00000338774			4.12E-05			0.000589					rs751233129,COSM2152753,COSM2152754		common_variant		ENST00000335712	Transcript	1		negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	ENSG00000119866	g.chr2:60679781G>A	13221			MODIFIER								--	--	1																																		BCL11A_uc002sac.2_Silent_p.F217F|BCL11A_uc010ypi.1_Missense_Mutation_p.R420W|BCL11A_uc010ypj.1_Silent_p.F767F	0,1,1	1			p.R751W	NM_018014	NP_060484			0,1,1	BC11A_HUMAN	BCL11A	HGNC	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		D6W5D9_HUMAN,Q53TS1_HUMAN,Q53TE8_HUMAN		5	2479	-			UPI000013DC00	Error:Variant_position_missing_in_Q9H165_after_alignment					SNV	BCL11A,missense_variant,p.Arg751Trp,ENST00000356842,NM_018014.3;BCL11A,missense_variant,p.Arg420Trp,ENST00000537768,;BCL11A,synonymous_variant,p.=,ENST00000538214,;BCL11A,synonymous_variant,p.=,ENST00000359629,NM_138559.1;BCL11A,downstream_gene_variant,,ENST00000335712,NM_022893.3;BCL11A,non_coding_transcript_exon_variant,,ENST00000489516,;BCL11A,non_coding_transcript_exon_variant,,ENST00000479026,;BCL11A,non_coding_transcript_exon_variant,,ENST00000492272,;	uc002sab.2	c.2251C>T	-/5942	2	2			c.2251C>T	T		IGH@		B-CLL	2	SNP	c.(2251-2253)CGG>TGG	34	34			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13	Broad	B-cell CLL/lymphoma 11A isoform 2			60679781		0.498	ENSG00000119866	1331	g.chr2:60679781G>A	negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding		p.R751W(SNU520-Tumor)	131		p.R751W(SNU520-Tumor)	131	101.549462	KEEP	25	19	-1	46	37	25	19	-1	104.59637	46	37	0.324324	1	0	0	0	0	1	0	0	0	--	--		0	A			BCL11A_uc002sac.2_Silent_p.F217F|BCL11A_uc010ypi.1_Missense_Mutation_p.R420W|BCL11A_uc010ypj.1_Silent_p.F767F	84	GBM-06-2561-TP	p.R751W	G	GTACTACGCCGAATGGGGGTG	NM_018014	NP_060484	60679781	Q9H165	BC11A_HUMAN	0	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		5	2479	-	A	A			Missense_Mutation	Error:Variant_position_missing_in_Q9H165_after_alignment						
BCL11B	64919	broad.mit.edu	GRCh37	14	99642475	99642475	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357195.3:c.698C>T	p.Ala233Val	p.A233V	ENST00000357195	NM_138576.2	233	gCg/gTg	0			1			A	A/V	uc001yga.2	protein_coding	YES	CCDS9950.1			698/2685	T		TLX3		T-ALL				central_nervous_system(8)|large_intestine(1)|lung(1)	10	c.(697-699)GCG>GTG			PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF45,SMART_domains:SM00355	B-cell CLL/lymphoma 11B isoform 1				ENSP00000349723		4-Apr									COSM3401577	4-Apr	.		ENST00000357195	Transcript				nucleus	zinc ion binding	ENSG00000127152	g.chr14:99642475G>A	13222			MODERATE		2.12	medium	getma.org/?cm=msa&ty=f&p=BC11B_HUMAN&rb=84&re=283&var=A233V	NA	getma.org/?cm=var&var=hg19,14,99642475,G,A&fts=all	A233V	--	--	1																																		BCL11B_uc001ygb.2_Missense_Mutation_p.A162V	1	1		probably_damaging(0.999)	p.A233V	NM_138576	NP_612808		deleterious(0)	1	BC11B_HUMAN	BCL11B	HGNC	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	L8B7P7_HUMAN		4	965	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	UPI000006E083	233			C2H2-type 1.		SNV	BCL11B,missense_variant,p.Ala162Val,ENST00000345514,NM_022898.1,NM_001282238.1;BCL11B,missense_variant,p.Ala233Val,ENST00000357195,NM_138576.2,NM_001282237.1;BCL11B,missense_variant,p.Ala39Val,ENST00000443726,;	uc001yga.2	c.698C>T	708/7559	1	1			c.698C>T	T		TLX3		T-ALL	14	SNP	c.(697-699)GCG>GTG	54	54			central_nervous_system(8)|large_intestine(1)|lung(1)	10	Broad	B-cell CLL/lymphoma 11B isoform 1			99642475		0.617	ENSG00000127152	1332	g.chr14:99642475G>A		nucleus	zinc ion binding			98			98	23.459105	KEEP	7	4	-1	18	13	7	4	-1	25.329982	18	13	0.257143	1	0	0	0	0	1	0	0	0	--	--		0	A			BCL11B_uc001ygb.2_Missense_Mutation_p.A162V	46	GBM-06-0209-TP	p.A233V	G	CAGGAACCACGCGCTGTTGAA	NM_138576	NP_612808	99642475	Q9C0K0	BC11B_HUMAN	0		COAD - Colon adenocarcinoma(157;0.103)	4	965	-	A	A		Melanoma(154;0.0866)|all_epithelial(191;0.241)	Missense_Mutation	233			C2H2-type 1.			
BCL11B	0	broad.mit.edu	GRCh37	14	99642350	99642351	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	CA			TCGA-14-0740-01	TCGA-14-0740-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357195.3:c.821_822dupTG	p.Ala275TrpfsTer7	p.A275Wfs*7	ENST00000357195	NM_138576.2	274	-/TG	0			1			CA	-/X	uc001yga.2	protein_coding	YES	CCDS9950.1			822-823/2685	T		TLX3		T-ALL				central_nervous_system(8)|large_intestine(1)|lung(1)	10	c.(820-825)GTGGCGfs			hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF45	B-cell CLL/lymphoma 11B isoform 1				ENSP00000349723		4-Apr										4-Apr	.		ENST00000357195	Transcript				nucleus	zinc ion binding	ENSG00000127152	g.chr14:99642350_99642351insCA	13222			HIGH								--	--	1																																		BCL11B_uc001ygb.2_Frame_Shift_Ins_p.V203fs		1			p.V274fs	NM_138576	NP_612808				BC11B_HUMAN	BCL11B	HGNC	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	L8B7P7_HUMAN		4	1089_1090	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	UPI000006E083	274_275					insertion	BCL11B,frameshift_variant,p.Ala204TrpfsTer7,ENST00000345514,NM_022898.1,NM_001282238.1;BCL11B,frameshift_variant,p.Ala275TrpfsTer7,ENST00000357195,NM_138576.2,NM_001282237.1;BCL11B,frameshift_variant,p.Ala81TrpfsTer7,ENST00000443726,;	uc001yga.2	c.822_823insTG	832-833/7559	5	5			c.822_823insTG	T		TLX3		T-ALL	14	INS	c.(820-825)GTGGCGfs	64	64			central_nervous_system(8)|large_intestine(1)|lung(1)	10	Broad	B-cell CLL/lymphoma 11B isoform 1			99642351		0.718	ENSG00000127152	1332	g.chr14:99642350_99642351insCA		nucleus	zinc ion binding			98			98														0.56	1	0	0	1	1	0	0	0	0	--	--		0	CA			BCL11B_uc001ygb.2_Frame_Shift_Ins_p.V203fs	132	GBM-14-0740-TP	p.V274fs	-	GGGGACTGCGCCACGGCCTCCG	NM_138576	NP_612808	99642350	Q9C0K0	BC11B_HUMAN	0		COAD - Colon adenocarcinoma(157;0.103)	4	1089_1090	-	CA	CA		Melanoma(154;0.0866)|all_epithelial(191;0.241)	Frame_Shift_Ins	274_275						
BCL11B	0	broad.mit.edu	GRCh37	14	99641920	99641920	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01	TCGA-14-3476-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357195.3:c.1253C>T	p.Pro418Leu	p.P418L	ENST00000357195	NM_138576.2	418	cCg/cTg	0			1			A	P/L	uc001yga.2	protein_coding	YES	CCDS9950.1			1253/2685	T		TLX3		T-ALL				central_nervous_system(8)|large_intestine(1)|lung(1)	10	c.(1252-1254)CCG>CTG			hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF45,Low_complexity_(Seg):seg	B-cell CLL/lymphoma 11B isoform 1				ENSP00000349723		4-Apr									COSM3401576	4-Apr	.		ENST00000357195	Transcript				nucleus	zinc ion binding	ENSG00000127152	g.chr14:99641920G>A	13222			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=BC11B_HUMAN&rb=284&re=440&var=P418L	NA	getma.org/?cm=var&var=hg19,14,99641920,G,A&fts=all	P418L	--	--	1																																		BCL11B_uc001ygb.2_Missense_Mutation_p.P347L	1	1		benign(0.338)	p.P418L	NM_138576	NP_612808		tolerated(0.06)	1	BC11B_HUMAN	BCL11B	HGNC	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	L8B7P7_HUMAN		4	1520	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	UPI000006E083	418					SNV	BCL11B,missense_variant,p.Pro347Leu,ENST00000345514,NM_022898.1,NM_001282238.1;BCL11B,missense_variant,p.Pro418Leu,ENST00000357195,NM_138576.2,NM_001282237.1;BCL11B,missense_variant,p.Pro224Leu,ENST00000443726,;	uc001yga.2	c.1253C>T	1263/7559	2	2			c.1253C>T	T		TLX3		T-ALL	14	SNP	c.(1252-1254)CCG>CTG	23	23			central_nervous_system(8)|large_intestine(1)|lung(1)	10	Broad	B-cell CLL/lymphoma 11B isoform 1			99641920		0.687	ENSG00000127152	1332	g.chr14:99641920G>A		nucleus	zinc ion binding			98			98	4.239793	KEEP	0	2	-1	7	10	0	2	-1	6.436725	7	10	0.125	1	0	0	0	0	1	0	0	0	--	--		0	A			BCL11B_uc001ygb.2_Missense_Mutation_p.P347L	151	GBM-14-3476-TP	p.P418L	G	CTGCGGGGGCGGCGTGCCGCC	NM_138576	NP_612808	99641920	Q9C0K0	BC11B_HUMAN	0		COAD - Colon adenocarcinoma(157;0.103)	4	1520	-	A	A		Melanoma(154;0.0866)|all_epithelial(191;0.241)	Missense_Mutation	418						
BCL2	596	broad.mit.edu	GRCh37	18	60985794	60985796	+	inframe_deletion	In_Frame_Del	DEL	CCA	CCA	-			TCGA-06-0745-01	TCGA-06-0745-01	CCA	CCA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333681.4:c.104_106del	p.Val35del	p.V35del	ENST00000333681		35	gTGGgc/ggc	0			1			-	VG/G	uc002lit.1	protein_coding		CCDS11981.1			104-106/720	T		IGH@		NHL|CLL				central_nervous_system(1)	1	c.(103-108)GTGGGC>GGC			Gene3D:1.10.437.10,Prints_domain:PR01863,hmmpanther:PTHR11256,hmmpanther:PTHR11256:SF11,Low_complexity_(Seg):seg,Superfamily_domains:SSF56854,TIGRFAM_domain:TIGR00865	B-cell lymphoma protein 2 alpha isoform	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)			ENSP00000329623		3-Feb									COSM2151734,COSM2151735,COSM2151736	3-Feb	.		ENST00000333681	Transcript	1		activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding	ENSG00000171791	g.chr18:60985794_60985796delCCA	990			MODERATE								--	--	1																																		BCL2_uc002liu.1_In_Frame_Del_p.V35del|BCL2_uc002liv.1_In_Frame_Del_p.V35del	1,1,1				p.V35del	NM_000633	NP_000624			1,1,1	BCL2_HUMAN	BCL2	HGNC	P10415	BCL2_HUMAN		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Q96PA0_HUMAN		2	597_599	-		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)	UPI000000D90E	35				Cleavage; by caspase-3.	deletion	BCL2,inframe_deletion,p.Val35del,ENST00000398117,NM_000633.2;BCL2,inframe_deletion,p.Val35del,ENST00000333681,;BCL2,inframe_deletion,p.Val35del,ENST00000444484,NM_000657.2;BCL2,inframe_deletion,p.Val35del,ENST00000589955,;RP11-28F1.2,upstream_gene_variant,,ENST00000588307,;	uc002lit.1	c.104_106delTGG	1003-1005/3209	5	5			c.104_106delTGG	T		IGH@		NHL|CLL	18	DEL	c.(103-108)GTGGGC>GGC	3	3			central_nervous_system(1)	1	Broad	B-cell lymphoma protein 2 alpha isoform		Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	60985796		0.532	ENSG00000171791	1333	g.chr18:60985794_60985796delCCA	activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			37			37														0.32	1	1	0	1	0	0	0	0	0	--	--		0	-			BCL2_uc002liu.1_In_Frame_Del_p.V35del|BCL2_uc002liv.1_In_Frame_Del_p.V35del	67	GBM-06-0745-TP	p.V35del	CCA	ggcgcggcgcccACATCTCCCGC	NM_000633	NP_000624	60985794	P10415	BCL2_HUMAN	0		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	2	597_599	-	-	-		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)	In_Frame_Del	35				Cleavage; by caspase-3.		
BCL2	596		GRCh37	18	60795928	60795929	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	-			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000333681.4:c.649_650del	p.Leu217GlufsTer38	p.L217Efs*38	ENST00000333681		217	CTg/g	0																																																																																																																																																																																																																																												
BCL2A1	597	broad.mit.edu	GRCh37	15	80263133	80263133	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs143571009		TCGA-06-0152-01	TCGA-06-0152-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267953.3:c.329C>T	p.Pro110Leu	p.P110L	ENST00000267953	NM_004049.3	110	cCg/cTg	0	A:0		1			A	P/L	uc002bfc.3	protein_coding	YES	CCDS10312.1			329/528									pancreas(1)	1	c.(328-330)CCG>CTG			Gene3D:1.10.437.10,Pfam_domain:PF00452,Prints_domain:PR01862,PROSITE_profiles:PS50062,hmmpanther:PTHR11256,hmmpanther:PTHR11256:SF10,SMART_domains:SM00337,Superfamily_domains:SSF56854	BCL2-related protein A1 isoform 1			A:0.0001	ENSP00000267953		2-Jan	4.12E-05					7.49E-05			rs143571009,COSM2011584,COSM2011585	2-Jan	.		ENST00000267953	Transcript			anti-apoptosis|apoptosis	cytoplasm	protein binding	ENSG00000140379	g.chr15:80263133G>A	991			MODERATE		0.225	neutral	getma.org/?cm=msa&ty=f&p=B2LA1_HUMAN&rb=37&re=140&var=P110L	getma.org/pdb.php?prot=B2LA1_HUMAN&from=37&to=140&var=P110L	getma.org/?cm=var&var=hg19,15,80263133,G,A&fts=all	P110L	--	--	1																																		BCL2A1_uc002bfd.3_Missense_Mutation_p.P110L	0,1,1	1		benign(0.003)	p.P110L	NM_004049	NP_004040		tolerated(0.61)	0,1,1	B2LA1_HUMAN	BCL2A1	HGNC	Q16548	B2LA1_HUMAN					1	511	-			UPI00001268AE	110					SNV	BCL2A1,missense_variant,p.Pro110Leu,ENST00000267953,NM_004049.3;BCL2A1,missense_variant,p.Pro110Leu,ENST00000335661,NM_001114735.1;	uc002bfc.3	c.329C>T	656/1033	1	1			c.329C>T						15	SNP	c.(328-330)CCG>CTG	63	63			pancreas(1)	1	Broad	BCL2-related protein A1 isoform 1			80263133		0.403	ENSG00000140379	1334	g.chr15:80263133G>A	anti-apoptosis|apoptosis	cytoplasm	protein binding			46			46	87.576819	KEEP	20	27	-1	143	131	20	27	-1	122.806221	143	131	0.15	1	0	0	0	0	1	0	0	0	--	--		0	A			BCL2A1_uc002bfd.3_Missense_Mutation_p.P110L	25	GBM-06-0152-TP	p.P110L	G	ATCCACATCCGGGGCAATTTG	NM_004049	NP_004040	80263133	Q16548	B2LA1_HUMAN	0			1	511	-	A	A			Missense_Mutation	110						
BCL2L10	10017		GRCh37	15	52404684	52404684	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000260442.3:c.240G>A	p.Leu80=	p.L80=	ENST00000260442	NM_020396.2	80	ctG/ctA	0																																																																																																																																																																																																																																												
BCL2L13	23786	broad.mit.edu	GRCh37	22	18178948	18178948	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0878-01	TCGA-06-0878-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317582.5:c.428C>T	p.Thr143Ile	p.T143I	ENST00000317582	NM_015367.3	143	aCc/aTc	0			1			T	T/I	uc002zmw.2	protein_coding	YES	CCDS13746.1			428/1458									ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	c.(427-429)ACC>ATC			Superfamily_domains:SSF56854,Gene3D:1.10.437.10,Pfam_domain:PF00452,hmmpanther:PTHR15758,PROSITE_profiles:PS50062	BCL2-like 13 (apoptosis facilitator)				ENSP00000318883		7-May									COSM2152258	7-May	.		ENST00000317582	Transcript			induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity	ENSG00000099968	g.chr22:18178948C>T	17164			MODERATE		1.6	low	getma.org/?cm=msa&ty=f&p=B2L13_HUMAN&rb=104&re=200&var=T143I	NA	getma.org/?cm=var&var=hg19,22,18178948,C,T&fts=all	T143I	--	--	1																																		BCL2L13_uc002zmu.2_Missense_Mutation_p.T143I|BCL2L13_uc002zmv.2_Missense_Mutation_p.T143I|BCL2L13_uc002zmx.2_5'UTR|BCL2L13_uc002zmy.2_Intron|BCL2L13_uc010gqy.2_Intron|BCL2L13_uc011agk.1_Intron|BCL2L13_uc010gqz.2_Intron|BCL2L13_uc002zmz.2_Intron	1	1		probably_damaging(0.96)	p.T143I	NM_015367	NP_056182		tolerated(0.42)	1	B2L13_HUMAN	BCL2L13	HGNC	Q9BXK5	B2L13_HUMAN		Lung(27;0.199)	B2RB43_HUMAN		5	646	+		all_epithelial(15;0.123)	UPI000004F301	143					SNV	BCL2L13,missense_variant,p.Thr143Ile,ENST00000317582,NM_015367.3;BCL2L13,missense_variant,p.Thr143Ile,ENST00000493680,;BCL2L13,missense_variant,p.Thr143Ile,ENST00000399782,;BCL2L13,5_prime_UTR_variant,,ENST00000543133,NM_001270729.1;BCL2L13,intron_variant,,ENST00000355028,NM_001270734.1,NM_001270733.1;BCL2L13,intron_variant,,ENST00000337612,;BCL2L13,intron_variant,,ENST00000538149,;BCL2L13,intron_variant,,ENST00000418951,;BCL2L13,non_coding_transcript_exon_variant,,ENST00000399781,;BCL2L13,non_coding_transcript_exon_variant,,ENST00000479296,;BCL2L13,downstream_gene_variant,,ENST00000464649,;BCL2L13,3_prime_UTR_variant,,ENST00000498133,;BCL2L13,intron_variant,,ENST00000399777,;	uc002zmw.2	c.428C>T	775/2992	2	2			c.428C>T						22	SNP	c.(427-429)ACC>ATC	22	22			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Broad	BCL2-like 13 (apoptosis facilitator)			18178948		0.383	ENSG00000099968	1339	g.chr22:18178948C>T	induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity							84.542894	KEEP	16	14	-1	15	13	16	14	-1	84.657391	15	13	0.55102	1	0	0	0	0	1	0	0	0	--	--		0	T			BCL2L13_uc002zmu.2_Missense_Mutation_p.T143I|BCL2L13_uc002zmv.2_Missense_Mutation_p.T143I|BCL2L13_uc002zmx.2_5'UTR|BCL2L13_uc002zmy.2_Intron|BCL2L13_uc010gqy.2_Intron|BCL2L13_uc011agk.1_Intron|BCL2L13_uc010gqz.2_Intron|BCL2L13_uc002zmz.2_Intron	74	GBM-06-0878-TP	p.T143I	C	ACACTGGAGACCACAGTTCAT	NM_015367	NP_056182	18178948	Q9BXK5	B2L13_HUMAN	0		Lung(27;0.199)	5	646	+	T	T		all_epithelial(15;0.123)	Missense_Mutation	143						
BCL2L14	79370	broad.mit.edu	GRCh37	12	12247837	12247837	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-02-0047-01	TCGA-02-0047-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308721.5:c.918G>A	p.Ser306=	p.S306=	ENST00000308721	NM_138723.1	306	tcG/tcA	0			1			A	S	uc001rac.2	protein_coding	YES	CCDS8645.1			918/984									skin(1)	1	c.(916-918)TCG>TCA			PROSITE_profiles:PS50062,hmmpanther:PTHR14965:SF1,hmmpanther:PTHR14965,Gene3D:1.10.437.10,Superfamily_domains:SSF56854	BCL2-like 14 isoform 1				ENSP00000309132		6-May									COSM3398458	6-May	.		ENST00000308721	Transcript			apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding	ENSG00000121380	g.chr12:12247837G>A	16657			LOW								--	--	1																																		ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Intron|BCL2L14_uc001rad.2_Silent_p.S306S|BCL2L14_uc001rae.2_3'UTR	1	1			p.S306S	NM_138723	NP_620049			1	B2L14_HUMAN	BCL2L14	HGNC	Q9BZR8	B2L14_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.154)	K7EKK7_HUMAN,C9J3S1_HUMAN		5	1119	+		Prostate(47;0.0872)	UPI000003DBCD	306					SNV	BCL2L14,synonymous_variant,p.=,ENST00000586576,;BCL2L14,synonymous_variant,p.=,ENST00000308721,NM_138723.1;BCL2L14,synonymous_variant,p.=,ENST00000396367,NM_138722.1;BCL2L14,synonymous_variant,p.=,ENST00000589718,;BCL2L14,3_prime_UTR_variant,,ENST00000266434,NM_030766.1;BCL2L14,intron_variant,,ENST00000396369,;BCL2L14,intron_variant,,ENST00000298566,;	uc001rac.2	c.918G>A	1124/1897	1	1			c.918G>A						12	SNP	c.(916-918)TCG>TCA	59	59			skin(1)	1	Broad	BCL2-like 14 isoform 1			12247837		0.448	ENSG00000121380	1340	g.chr12:12247837G>A	apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			10			10	-24.226439	KEEP	2	3	-1	72	76	2	3	-1	7.69008	72	76	0.036496	1	0	0	0	0	0	0	1	0	--	--		0	A			ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Intron|BCL2L14_uc001rad.2_Silent_p.S306S|BCL2L14_uc001rae.2_3'UTR	3	GBM-02-0047-TP	p.S306S	G	AGAACTTCTCGCCATGGATCC	NM_138723	NP_620049	12247837	Q9BZR8	B2L14_HUMAN	0		BRCA - Breast invasive adenocarcinoma(232;0.154)	5	1119	+	A	A		Prostate(47;0.0872)	Silent	306						
BCL2L14	79370	broad.mit.edu	GRCh37	12	12232401	12232401	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5410-01	TCGA-06-5410-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308721.5:c.162C>T	p.Ser54=	p.S54=	ENST00000308721	NM_138723.1	54	tcC/tcT	0			1			T	S	uc001rac.2	protein_coding	YES	CCDS8645.1			162/984								p.S54S(1)	skin(1)	1	c.(160-162)TCC>TCT			hmmpanther:PTHR14965:SF1,hmmpanther:PTHR14965	BCL2-like 14 isoform 1				ENSP00000309132		6-Feb									COSM21786,COSM2176250,COSM2176251	6-Feb	.		ENST00000308721	Transcript			apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding	ENSG00000121380	g.chr12:12232401C>T	16657			LOW								--	--	1																																		ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_RNA|BCL2L14_uc001rad.2_Silent_p.S54S|BCL2L14_uc001rae.2_Silent_p.S54S	1,1,1	1			p.S54S	NM_138723	NP_620049			1,1,1	B2L14_HUMAN	BCL2L14	HGNC	Q9BZR8	B2L14_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.154)	K7EKK7_HUMAN,C9J3S1_HUMAN		2	363	+		Prostate(47;0.0872)	UPI000003DBCD	54					SNV	BCL2L14,synonymous_variant,p.=,ENST00000266434,NM_030766.1;BCL2L14,synonymous_variant,p.=,ENST00000586576,;BCL2L14,synonymous_variant,p.=,ENST00000308721,NM_138723.1;BCL2L14,synonymous_variant,p.=,ENST00000396367,NM_138722.1;BCL2L14,synonymous_variant,p.=,ENST00000589718,;BCL2L14,synonymous_variant,p.=,ENST00000396369,;BCL2L14,synonymous_variant,p.=,ENST00000461264,;BCL2L14,synonymous_variant,p.=,ENST00000464885,;BCL2L14,synonymous_variant,p.=,ENST00000588270,;BCL2L14,downstream_gene_variant,,ENST00000466531,;BCL2L14,synonymous_variant,p.=,ENST00000298566,;	uc001rac.2	c.162C>T	368/1897	2	2			c.162C>T						12	SNP	c.(160-162)TCC>TCT	33	33		p.S54S(1)	skin(1)	1	Broad	BCL2-like 14 isoform 1			12232401		0.488	ENSG00000121380	1340	g.chr12:12232401C>T	apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			10			10	3.93173	KEEP	2	4	-1	24	40	2	4	-1	15.036747	24	40	0.090909	1	0	0	0	0	0	0	1	0	--	--		0	T			ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_RNA|BCL2L14_uc001rad.2_Silent_p.S54S|BCL2L14_uc001rae.2_Silent_p.S54S	93	GBM-06-5410-TP	p.S54S	C	GAAGTTTGTCCCAGAGGGGCC	NM_138723	NP_620049	12232401	Q9BZR8	B2L14_HUMAN	0		BRCA - Breast invasive adenocarcinoma(232;0.154)	2	363	+	T	T		Prostate(47;0.0872)	Silent	54						
BCL2L2	0	broad.mit.edu	GRCh37	14	23777257	23777258	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C			TCGA-32-2495-01	TCGA-32-2495-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000250405.5:c.283dupC	p.Arg95ProfsTer15	p.R95Pfs*15	ENST00000250405	NM_004050.4	94	ggc/ggCc	0			1			C	G/GX	uc001wjh.3	protein_coding	YES	CCDS9591.1			281-282/582									ovary(2)	2	c.(280-282)GGCfs			PROSITE_profiles:PS50062,hmmpanther:PTHR11256:SF13,hmmpanther:PTHR11256,PROSITE_patterns:PS01080,Pfam_domain:PF00452,Gene3D:1.10.437.10,SMART_domains:SM00337,Superfamily_domains:SSF56854,Prints_domain:PR01862	poly(A) binding protein, nuclear 1				ENSP00000250405		4-Mar										4-Mar	.		ENST00000250405	Transcript			modification by virus of host mRNA processing|mRNA 3'-end processing|muscle contraction|nuclear mRNA splicing, via spliceosome|poly(A)+ mRNA export from nucleus|termination of RNA polymerase II transcription|viral infectious cycle	cytoplasm|nucleoplasm|ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding	ENSG00000129473	g.chr14:23777257_23777258insC	995	2		HIGH								--	--	1																																		BCL2L2_uc001wjg.3_Frame_Shift_Ins_p.G94fs|BCL2L2_uc001wji.3_Frame_Shift_Ins_p.G94fs		1			p.G94fs	NM_004643	NP_004634				B2CL2_HUMAN	BCL2L2	HGNC	Q86U42	PABP2_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	G3V5A9_HUMAN,G3V4B7_HUMAN,G3V3G8_HUMAN,G3V3B7_HUMAN		3	469_470	+	all_cancers(95;6.69e-06)		UPI000013CCB8	Error:Variant_position_missing_in_Q86U42_after_alignment					insertion	BCL2L2,frameshift_variant,p.Arg95ProfsTer15,ENST00000250405,NM_004050.4,NM_001199839.1;BCL2L2-PABPN1,frameshift_variant,p.Arg95ProfsTer15,ENST00000557008,;BCL2L2-PABPN1,frameshift_variant,p.Arg95ProfsTer15,ENST00000553781,NM_001199864.1;BCL2L2-PABPN1,frameshift_variant,p.Arg95ProfsTer15,ENST00000556100,;BCL2L2,frameshift_variant,p.Arg95ProfsTer15,ENST00000557236,;BCL2L2,frameshift_variant,p.Arg95ProfsTer15,ENST00000557579,;BCL2L2,frameshift_variant,p.Arg38ProfsTer15,ENST00000556599,;BCL2L2,downstream_gene_variant,,ENST00000553824,;BCL2L2,downstream_gene_variant,,ENST00000554635,;	uc001wjh.3	c.281_282insC	510-511/3605	5	5			c.281_282insC						14	INS	c.(280-282)GGCfs	33	33			ovary(2)	2	Broad	poly(A) binding protein, nuclear 1			23777258		0.574	ENSG00000129473	11177	g.chr14:23777257_23777258insC	modification by virus of host mRNA processing|mRNA 3'-end processing|muscle contraction|nuclear mRNA splicing, via spliceosome|poly(A)+ mRNA export from nucleus|termination of RNA polymerase II transcription|viral infectious cycle	cytoplasm|nucleoplasm|ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding			17			17														0.02	1	0	0	1	1	0	0	0	0	--	--		0	C			BCL2L2_uc001wjg.3_Frame_Shift_Ins_p.G94fs|BCL2L2_uc001wji.3_Frame_Shift_Ins_p.G94fs	237	GBM-32-2495-TP	p.G94fs	-	CCCAACTGGGGCCGCCTTGTAG	NM_004643	NP_004634	23777257	Q86U42	PABP2_HUMAN	0		GBM - Glioblastoma multiforme(265;0.00643)	3	469_470	+	C	C	all_cancers(95;6.69e-06)		Frame_Shift_Ins	Error:Variant_position_missing_in_Q86U42_after_alignment						
BCL6	604	broad.mit.edu	GRCh37	3	187440292	187440292	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0210-01	TCGA-06-0210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000232014.4:c.2075G>A	p.Arg692His	p.R692H	ENST00000232014	NM_001130845.1	692	cGc/cAc	0			1			T	R/H	uc003frp.3	protein_coding		CCDS3289.1			2075/2121	T|Mis		IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3		NHL|CLL				ovary(2)|lung(2)|central_nervous_system(1)	5	c.(2074-2076)CGC>CAC			hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF88	B-cell lymphoma 6 protein isoform 1				ENSP00000232014		10-Oct	4.94E-05					1.50E-05		0.000304	rs750212558,COSM3408501	10-Oct	.		ENST00000232014	Transcript	1		negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000113916	g.chr3:187440292C>T	1001			MODERATE		1.385	low	getma.org/?cm=msa&ty=f&p=BCL6_HUMAN&rb=670&re=706&var=R692H	NA	getma.org/?cm=var&var=hg19,3,187440292,C,T&fts=all	R692H	--	--	1																																		BCL6_uc011bsf.1_Missense_Mutation_p.R636H|BCL6_uc010hza.2_Missense_Mutation_p.R590H|BCL6_uc003frq.1_Missense_Mutation_p.R692H	0,1			possibly_damaging(0.568)	p.R692H	NM_001130845	NP_001124317		deleterious(0)	0,1	BCL6_HUMAN	BCL6	HGNC	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	C9JL16_HUMAN,C9JCS5_HUMAN		10	2532	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		UPI000012682C	692					SNV	BCL6,missense_variant,p.Arg692His,ENST00000406870,NM_001706.4;BCL6,missense_variant,p.Arg692His,ENST00000232014,NM_001130845.1;BCL6,missense_variant,p.Arg636His,ENST00000450123,NM_001134738.1;RP11-211G3.3,intron_variant,,ENST00000449623,;RP11-211G3.3,intron_variant,,ENST00000437407,;BCL6,3_prime_UTR_variant,,ENST00000419510,;BCL6,downstream_gene_variant,,ENST00000479110,;	uc003frp.3	c.2075G>A	2604/2710	2	2			c.2075G>A	T|Mis		IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3		NHL|CLL	3	SNP	c.(2074-2076)CGC>CAC	48	48			ovary(2)|lung(2)|central_nervous_system(1)	5	Broad	B-cell lymphoma 6 protein isoform 1			187440292		0.552	ENSG00000113916	1344	g.chr3:187440292C>T	negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			277			277	-33.371757	KEEP	2	3	-1	83	100	2	3	-1	6.774709	83	100	0.030303	1	0	0	0	0	1	0	0	0	--	--		0	T			BCL6_uc011bsf.1_Missense_Mutation_p.R636H|BCL6_uc010hza.2_Missense_Mutation_p.R590H|BCL6_uc003frq.1_Missense_Mutation_p.R692H	47	GBM-06-0210-TP	p.R692H	C	GGCTGACACGCGGTATTGCAC	NM_001130845	NP_001124317	187440292	P41182	BCL6_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	10	2532	-	T	T	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		Missense_Mutation	692						
BCL6	604	broad.mit.edu	GRCh37	3	187442788	187442788	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000232014.4:c.1918C>T	p.Arg640Trp	p.R640W	ENST00000232014	NM_001130845.1	640	Cgg/Tgg	0			1			A	R/W	uc003frp.3	protein_coding		CCDS3289.1			1918/2121	T|Mis		IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3		NHL|CLL				ovary(2)|lung(2)|central_nervous_system(1)	5	c.(1918-1920)CGG>TGG			PROSITE_profiles:PS50157,hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF88,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	B-cell lymphoma 6 protein isoform 1				ENSP00000232014		10-Sep									COSM1421596	10-Sep	.		ENST00000232014	Transcript	1		negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000113916	g.chr3:187442788G>A	1001			MODERATE		1.62	low	getma.org/?cm=msa&ty=f&p=BCL6_HUMAN&rb=596&re=661&var=R640W	getma.org/pdb.php?prot=BCL6_HUMAN&from=616&to=641&var=R640W	getma.org/?cm=var&var=hg19,3,187442788,G,A&fts=all	R640W	--	--	1																																		BCL6_uc011bsf.1_Missense_Mutation_p.R584W|BCL6_uc010hza.2_Missense_Mutation_p.R538W|BCL6_uc003frq.1_Missense_Mutation_p.R640W	1			probably_damaging(0.999)	p.R640W	NM_001130845	NP_001124317		deleterious(0)	1	BCL6_HUMAN	BCL6	HGNC	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	C9JL16_HUMAN,C9JCS5_HUMAN		9	2375	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		UPI000012682C	640			C2H2-type 5.		SNV	BCL6,missense_variant,p.Arg640Trp,ENST00000406870,NM_001706.4;BCL6,missense_variant,p.Arg640Trp,ENST00000232014,NM_001130845.1;BCL6,missense_variant,p.Arg584Trp,ENST00000450123,NM_001134738.1;RP11-211G3.3,intron_variant,,ENST00000449623,;RP11-211G3.3,intron_variant,,ENST00000437407,;BCL6,3_prime_UTR_variant,,ENST00000419510,;BCL6,non_coding_transcript_exon_variant,,ENST00000479110,;	uc003frp.3	c.1918C>T	2447/2710	2	2			c.1918C>T	T|Mis		IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3		NHL|CLL	3	SNP	c.(1918-1920)CGG>TGG	33	33			ovary(2)|lung(2)|central_nervous_system(1)	5	Broad	B-cell lymphoma 6 protein isoform 1			187442788		0.557	ENSG00000113916	1344	g.chr3:187442788G>A	negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		p.R640W(NALM6-Tumor)	277		p.R640W(NALM6-Tumor)	277	253.818278	KEEP	45	44	-1	13	20	45	44	-1	257.89296	13	20	0.707547	1	0	0	0	0	1	0	0	0	--	--		0	A			BCL6_uc011bsf.1_Missense_Mutation_p.R584W|BCL6_uc010hza.2_Missense_Mutation_p.R538W|BCL6_uc003frq.1_Missense_Mutation_p.R640W	102	GBM-06-5858-TP	p.R640W	G	TGAAGGTGCCGGAAACGGGTG	NM_001130845	NP_001124317	187442788	P41182	BCL6_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	9	2375	-	A	A	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		Missense_Mutation	640			C2H2-type 5.			
BCL6	0	broad.mit.edu	GRCh37	3	187443315	187443315	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01	TCGA-32-4719-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000232014.4:c.1811G>A	p.Cys604Tyr	p.C604Y	ENST00000232014	NM_001130845.1	604	tGc/tAc	0			1			T	C/Y	uc003frp.3	protein_coding		CCDS3289.1			1811/2121	T|Mis		IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3		NHL|CLL				ovary(2)|lung(2)|central_nervous_system(1)	5	c.(1810-1812)TGC>TAC			PROSITE_profiles:PS50157,hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF88,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	B-cell lymphoma 6 protein isoform 1				ENSP00000232014		10-Aug									COSM2157407	10-Aug	.		ENST00000232014	Transcript	1		negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000113916	g.chr3:187443315C>T	1001			MODERATE		3.75	high	getma.org/?cm=msa&ty=f&p=BCL6_HUMAN&rb=568&re=633&var=C604Y	getma.org/pdb.php?prot=BCL6_HUMAN&from=588&to=613&var=C604Y	getma.org/?cm=var&var=hg19,3,187443315,C,T&fts=all	C604Y	--	--	1																																		BCL6_uc011bsf.1_Missense_Mutation_p.C548Y|BCL6_uc010hza.2_Missense_Mutation_p.C502Y|BCL6_uc003frq.1_Missense_Mutation_p.C604Y	1			possibly_damaging(0.789)	p.C604Y	NM_001130845	NP_001124317		deleterious(0)	1	BCL6_HUMAN	BCL6	HGNC	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	C9JL16_HUMAN,C9JCS5_HUMAN		8	2268	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		UPI000012682C	604			C2H2-type 4.		SNV	BCL6,missense_variant,p.Cys604Tyr,ENST00000406870,NM_001706.4;BCL6,missense_variant,p.Cys604Tyr,ENST00000232014,NM_001130845.1;BCL6,missense_variant,p.Cys548Tyr,ENST00000450123,NM_001134738.1;RP11-211G3.3,intron_variant,,ENST00000449623,;RP11-211G3.3,intron_variant,,ENST00000437407,;BCL6,3_prime_UTR_variant,,ENST00000419510,;BCL6,non_coding_transcript_exon_variant,,ENST00000479110,;	uc003frp.3	c.1811G>A	2340/2710	2	2			c.1811G>A	T|Mis		IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3		NHL|CLL	3	SNP	c.(1810-1812)TGC>TAC	45	45			ovary(2)|lung(2)|central_nervous_system(1)	5	Broad	B-cell lymphoma 6 protein isoform 1			187443315		0.328	ENSG00000113916	1344	g.chr3:187443315C>T	negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			277			277	225.324058	KEEP	35	56	-1	62	73	35	56	-1	226.615172	62	73	0.413265	1	0	0	0	0	1	0	0	0	--	--		0	T			BCL6_uc011bsf.1_Missense_Mutation_p.C548Y|BCL6_uc010hza.2_Missense_Mutation_p.C502Y|BCL6_uc003frq.1_Missense_Mutation_p.C604Y	248	GBM-32-4719-TP	p.C604Y	C	GCAGGTTTCGCATTTGTAGGG	NM_001130845	NP_001124317	187443315	P41182	BCL6_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	8	2268	-	T	T	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		Missense_Mutation	604			C2H2-type 4.			
BCL6B	0	broad.mit.edu	GRCh37	17	6929925	6929925	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01	TCGA-12-1597-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000293805.5:c.1039C>T	p.Arg347Cys	p.R347C	ENST00000293805	NM_181844.3	347	Cgt/Tgt	0			1			T	R/C	uc002geg.2	protein_coding	YES	CCDS42248.1			1039/1440									skin(1)	1	c.(1039-1041)CGT>TGT			PROSITE_profiles:PS50157,hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF128,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	B-cell CLL/lymphoma 6, member B (zinc finger				ENSP00000293805		9-Jun	8.26E-06					1.50E-05			rs747226288,COSM2976073,COSM2976072	9-Jun	.		ENST00000293805	Transcript				nucleus	zinc ion binding	ENSG00000161940	g.chr17:6929925C>T	1002			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=BCL6B_HUMAN&rb=322&re=387&var=R347C	getma.org/pdb.php?prot=BCL6B_HUMAN&from=342&to=367&var=R347C	getma.org/?cm=var&var=hg19,17,6929925,C,T&fts=all	R347C	--	--	1																																		BCL6B_uc010clt.1_Missense_Mutation_p.R348C	0,1,1	1		probably_damaging(0.985)	p.R347C	NM_181844	NP_862827		deleterious(0)	0,1,1	BCL6B_HUMAN	BCL6B	HGNC	Q8N143	BCL6B_HUMAN			Q15934_HUMAN,I3L396_HUMAN,I3L304_HUMAN,A8KA13_HUMAN		6	1096	+			UPI000013E124	347			C2H2-type 1.		SNV	BCL6B,missense_variant,p.Arg347Cys,ENST00000293805,NM_181844.3;BCL6B,missense_variant,p.Arg36Cys,ENST00000537931,;BCL6B,downstream_gene_variant,,ENST00000573503,;BCL6B,downstream_gene_variant,,ENST00000576705,;BCL6B,downstream_gene_variant,,ENST00000572216,;BCL6B,upstream_gene_variant,,ENST00000571729,;	uc002geg.2	c.1039C>T	1131/3555	2	2			c.1039C>T						17	SNP	c.(1039-1041)CGT>TGT	41	41			skin(1)	1	Broad	B-cell CLL/lymphoma 6, member B (zinc finger			6929925		0.582	ENSG00000161940	1345	g.chr17:6929925C>T		nucleus	zinc ion binding							191.63959	KEEP	37	26	-1	60	46	37	26	-1	193.4359	60	46	0.386076	1	0	0	0	0	1	0	0	0	--	--		0	T			BCL6B_uc010clt.1_Missense_Mutation_p.R348C	124	GBM-12-1597-TP	p.R347C	C	TGCCAGTCATCGTACAGTGCA	NM_181844	NP_862827	6929925	Q8N143	BCL6B_HUMAN	0			6	1096	+	T	T			Missense_Mutation	347			C2H2-type 1.			
BCL9	607	broad.mit.edu	GRCh37	1	147092093	147092093	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-5856-01	TCGA-06-5856-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000234739.3:c.2132T>G	p.Met711Arg	p.M711R	ENST00000234739	NM_004326.3	711	aTg/aGg	0			1			G	M/R	uc001epq.2	protein_coding	YES	CCDS30833.1			2132/4281	T		IGH@|IGL@		B-ALL				ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	c.(2131-2133)ATG>AGG			hmmpanther:PTHR15185,hmmpanther:PTHR15185:SF5	B-cell CLL/lymphoma 9				ENSP00000234739		10-Aug									COSM3399675	10-Aug	.		ENST00000234739	Transcript			Wnt receptor signaling pathway	nucleus	protein binding	ENSG00000116128	g.chr1:147092093T>G	1008			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=BCL9_HUMAN&rb=590&re=789&var=M711R	NA	getma.org/?cm=var&var=hg19,1,147092093,T,G&fts=all	M711R	--	--	1																																		BCL9_uc010ozr.1_Missense_Mutation_p.M637R	1	1		possibly_damaging(0.769)	p.M711R	NM_004326	NP_004317		deleterious(0.03)	1	BCL9_HUMAN	BCL9	HGNC	O00512	BCL9_HUMAN					8	2872	+	all_hematologic(923;0.115)		UPI000013C9B9	711			Pro-rich.		SNV	BCL9,missense_variant,p.Met711Arg,ENST00000234739,NM_004326.3;BCL9,downstream_gene_variant,,ENST00000473292,;	uc001epq.2	c.2132T>G	2872/6278	3	3			c.2132T>G	T		IGH@|IGL@		B-ALL	1	SNP	c.(2131-2133)ATG>AGG	49	49			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	Broad	B-cell CLL/lymphoma 9			147092093		0.527	ENSG00000116128	1349	g.chr1:147092093T>G	Wnt receptor signaling pathway	nucleus	protein binding			202			202	-2.288691	KEEP	4	1	-1	44	42	4	1	-1	13.392913	44	42	0.063291	1	0	0	0	0	1	0	0	0	--	--		0	G			BCL9_uc010ozr.1_Missense_Mutation_p.M637R	101	GBM-06-5856-TP	p.M711R	T	GAGTTTGGGATGGTTCCTAGT	NM_004326	NP_004317	147092093	O00512	BCL9_HUMAN	0			8	2872	+	G	G	all_hematologic(923;0.115)		Missense_Mutation	711			Pro-rich.			
BCL9	607		GRCh37	1	147091673	147091673	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000234739.3:c.1712C>G	p.Ser571Cys	p.S571C	ENST00000234739	NM_004326.3	571	tCt/tGt	0																																																																																																																																																																																																																																												
BCL9L	283149	broad.mit.edu	GRCh37	11	118773532	118773532	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01	TCGA-06-0195-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334801.3:c.920C>T	p.Pro307Leu	p.P307L	ENST00000334801	NM_182557.2	307	cCg/cTg	0			1			A	P/L	uc001pug.2	protein_coding	YES	CCDS8403.1			920/4500									ovary(1)|pancreas(1)	2	c.(919-921)CCG>CTG			Low_complexity_(Seg):seg,hmmpanther:PTHR15185,hmmpanther:PTHR15185:SF3	B-cell CLL/lymphoma 9-like				ENSP00000335320		8-Jun	1.69E-05			0.000164		2.34E-05			rs774747102,COSM3397457,COSM3397458	8-Jun	.		ENST00000334801	Transcript			negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	ENSG00000186174	g.chr11:118773532G>A	23688			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=BCL9L_HUMAN&rb=201&re=397&var=P307L	NA	getma.org/?cm=var&var=hg19,11,118773532,G,A&fts=all	P307L	--	--	1																																		BCL9L_uc009zal.2_Missense_Mutation_p.P302L	0,1,1	1		benign(0)	p.P307L	NM_182557	NP_872363			0,1,1	BCL9L_HUMAN	BCL9L	HGNC	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	E9PNR0_HUMAN		6	1885	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	UPI0000192102	307			Pro-rich.|Necessary for interaction with CTNNB1 (By similarity).		SNV	BCL9L,missense_variant,p.Pro307Leu,ENST00000334801,NM_182557.2;BCL9L,non_coding_transcript_exon_variant,,ENST00000526143,;BCL9L,non_coding_transcript_exon_variant,,ENST00000527266,;BCL9L,intron_variant,,ENST00000526514,;BCL9L,intron_variant,,ENST00000530293,;	uc001pug.2	c.920C>T	1885/10005	1	1			c.920C>T						11	SNP	c.(919-921)CCG>CTG	59	59			ovary(1)|pancreas(1)	2	Broad	B-cell CLL/lymphoma 9-like			118773532		0.716	ENSG00000186174	1350	g.chr11:118773532G>A	negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity							142.082193	KEEP	24	36	-1	8	8	24	36	-1	149.310544	8	8	0.893617	1	0	0	0	0	1	0	0	0	--	--		0	A			BCL9L_uc009zal.2_Missense_Mutation_p.P302L	45	GBM-06-0195-TP	p.P307L	G	TGGCGGCGGCGGCAGTGGAGG	NM_182557	NP_872363	118773532	Q86UU0	BCL9L_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	1885	-	A	A	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	Missense_Mutation	307			Pro-rich.|Necessary for interaction with CTNNB1 (By similarity).			
BCLAF1	9774	broad.mit.edu	GRCh37	6	136599630	136599630	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs147614051		TCGA-06-0209-01	TCGA-06-0209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000531224.1:c.389G>A	p.Arg130His	p.R130H	ENST00000531224	NM_001077441.1	130	cGc/cAc	0	T:0.0002		1			T	R/H	uc003qgx.1	protein_coding	YES	CCDS5177.1			389/2763									ovary(1)	1	c.(388-390)CGC>CAC			Pfam_domain:PF15440,hmmpanther:PTHR15268,hmmpanther:PTHR15268:SF4,Low_complexity_(Seg):seg	BCL2-associated transcription factor 1 isoform			T:0	ENSP00000435210		13-Apr	8.24E-05	9.61E-05	0.000261			8.99E-05			rs147614051,COSM1073679	13-Apr	.		ENST00000531224	Transcript			induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	ENSG00000029363	g.chr6:136599630C>T	16863			MODERATE		0.405	neutral	getma.org/?cm=msa&ty=f&p=BCLF1_HUMAN&rb=1&re=555&var=R130H	NA	getma.org/?cm=var&var=hg19,6,136599630,C,T&fts=all	R130H	--	--	1																																		BCLAF1_uc003qgw.1_Missense_Mutation_p.R130H|BCLAF1_uc003qgy.1_Missense_Mutation_p.R128H|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R128H	0,1	1		unknown(0)	p.R130H	NM_014739	NP_055554		tolerated_low_confidence(0.45)	0,1	BCLF1_HUMAN	BCLAF1	HGNC	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	B0AZU3_HUMAN		4	642	-	Colorectal(23;0.24)		UPI000006FCE7	130					SNV	BCLAF1,missense_variant,p.Arg130His,ENST00000531224,NM_001077441.1,NM_014739.2;BCLAF1,missense_variant,p.Arg128His,ENST00000353331,NM_001077440.1;BCLAF1,missense_variant,p.Arg130His,ENST00000527536,;BCLAF1,missense_variant,p.Arg128His,ENST00000527759,;BCLAF1,missense_variant,p.Arg130His,ENST00000530767,;BCLAF1,missense_variant,p.Arg128His,ENST00000392348,;BCLAF1,missense_variant,p.Arg130His,ENST00000529826,;BCLAF1,missense_variant,p.Arg130His,ENST00000527613,;BCLAF1,missense_variant,p.Arg128His,ENST00000534269,;BCLAF1,missense_variant,p.Arg130His,ENST00000532384,;BCLAF1,missense_variant,p.Arg128His,ENST00000530429,;BCLAF1,upstream_gene_variant,,ENST00000476194,;BCLAF1,upstream_gene_variant,,ENST00000533621,;BCLAF1,downstream_gene_variant,,ENST00000528229,;	uc003qgx.1	c.389G>A	642/7263	2	2			c.389G>A						6	SNP	c.(388-390)CGC>CAC	32	32			ovary(1)	1	Broad	BCL2-associated transcription factor 1 isoform			136599630		0.458	ENSG00000029363	1351	g.chr6:136599630C>T	induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	Colon(142;1534 1789 5427 7063 28491)			Colon(142;1534 1789 5427 7063 28491)			88.30298	KEEP	29	29	-1	158	180	29	29	-1	131.002312	158	180	0.144886	1	0	0	0	0	1	0	0	0	--	--		0	T			BCLAF1_uc003qgw.1_Missense_Mutation_p.R130H|BCLAF1_uc003qgy.1_Missense_Mutation_p.R128H|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R128H	46	GBM-06-0209-TP	p.R130H	C	ATATGACCGGCGAGATCTGCT	NM_014739	NP_055554	136599630	Q9NYF8	BCLF1_HUMAN	0		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	642	-	T	T	Colorectal(23;0.24)		Missense_Mutation	130						
BCLAF1	9774	broad.mit.edu	GRCh37	6	136600997	136600997	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs148729378	byFrequency	TCGA-06-0645-01	TCGA-06-0645-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000531224.1:c.8G>A	p.Arg3His	p.R3H	ENST00000531224	NM_001077441.1	3	cGc/cAc	0	T:0		1			T	R/H	uc003qgx.1	protein_coding	YES	CCDS5177.1			Aug-63									ovary(1)	1	c.(7-9)CGC>CAC			hmmpanther:PTHR15268,hmmpanther:PTHR15268:SF4,Low_complexity_(Seg):seg	BCL2-associated transcription factor 1 isoform			T:0.0002	ENSP00000435210		13-Mar	0.000338	9.79E-05		0.00188		0.000215		0.000433	rs148729378,COSM739960	13-Mar	common_variant		ENST00000531224	Transcript			induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	ENSG00000029363	g.chr6:136600997C>T	16863			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=BCLF1_HUMAN&rb=1&re=555&var=R3H	NA	getma.org/?cm=var&var=hg19,6,136600997,C,T&fts=all	R3H	--	--	1																																		BCLAF1_uc003qgw.1_Missense_Mutation_p.R3H|BCLAF1_uc003qgy.1_Missense_Mutation_p.R3H|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R3H	0,1	1		unknown(0)	p.R3H	NM_014739	NP_055554		deleterious_low_confidence(0)	0,1	BCLF1_HUMAN	BCLAF1	HGNC	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	B0AZU3_HUMAN		3	261	-	Colorectal(23;0.24)		UPI000006FCE7	3					SNV	BCLAF1,missense_variant,p.Arg3His,ENST00000531224,NM_001077441.1,NM_014739.2;BCLAF1,missense_variant,p.Arg3His,ENST00000353331,NM_001077440.1;BCLAF1,missense_variant,p.Arg3His,ENST00000527536,;BCLAF1,missense_variant,p.Arg3His,ENST00000527759,;BCLAF1,missense_variant,p.Arg3His,ENST00000530767,;BCLAF1,missense_variant,p.Arg3His,ENST00000392348,;BCLAF1,missense_variant,p.Arg3His,ENST00000529826,;BCLAF1,missense_variant,p.Arg3His,ENST00000527613,;BCLAF1,missense_variant,p.Arg3His,ENST00000534269,;BCLAF1,missense_variant,p.Arg3His,ENST00000532384,;BCLAF1,missense_variant,p.Arg3His,ENST00000530429,;BCLAF1,non_coding_transcript_exon_variant,,ENST00000528229,;BCLAF1,upstream_gene_variant,,ENST00000533621,;	uc003qgx.1	c.8G>A	261/7263	2	2			c.8G>A						6	SNP	c.(7-9)CGC>CAC	33	33			ovary(1)	1	Broad	BCL2-associated transcription factor 1 isoform			136600997		0.308	ENSG00000029363	1351	g.chr6:136600997C>T	induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	Colon(142;1534 1789 5427 7063 28491)			Colon(142;1534 1789 5427 7063 28491)			-2.777594	KEEP	4	1	-1	45	35	4	1	-1	11.272866	45	35	0.068493	1	0	0	0	0	1	0	0	0	--	--		0	T			BCLAF1_uc003qgw.1_Missense_Mutation_p.R3H|BCLAF1_uc003qgy.1_Missense_Mutation_p.R3H|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R3H	59	GBM-06-0645-TP	p.R3H	C	AGAATTGGAGCGACCCATTTC	NM_014739	NP_055554	136600997	Q9NYF8	BCLF1_HUMAN	0		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	3	261	-	T	T	Colorectal(23;0.24)		Missense_Mutation	3						
BCLAF1	0	broad.mit.edu	GRCh37	6	136582520	136582520	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-32-1982-01	TCGA-32-1982-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000531224.1:c.2640A>G	p.Lys880=	p.K880=	ENST00000531224	NM_001077441.1	880	aaA/aaG	0			1			C	K	uc003qgx.1	protein_coding	YES	CCDS5177.1			2640/2763									ovary(1)	1	c.(2638-2640)AAA>AAG			hmmpanther:PTHR15268,hmmpanther:PTHR15268:SF4	BCL2-associated transcription factor 1 isoform				ENSP00000435210		13-Dec	8.24E-06					1.50E-05			rs200948350,COSM3410609	13-Dec	.		ENST00000531224	Transcript			induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	ENSG00000029363	g.chr6:136582520T>C	16863			LOW								--	--	1																																		BCLAF1_uc011edb.1_Silent_p.K159K|BCLAF1_uc003qgw.1_Silent_p.K707K|BCLAF1_uc003qgy.1_Silent_p.K829K|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.K878K	0,1	1			p.K880K	NM_014739	NP_055554			0,1	BCLF1_HUMAN	BCLAF1	HGNC	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	B0AZU3_HUMAN		12	2893	-	Colorectal(23;0.24)		UPI000006FCE7	880					SNV	BCLAF1,synonymous_variant,p.=,ENST00000531224,NM_001077441.1,NM_014739.2;BCLAF1,synonymous_variant,p.=,ENST00000353331,NM_001077440.1;BCLAF1,synonymous_variant,p.=,ENST00000527536,;BCLAF1,synonymous_variant,p.=,ENST00000527759,;BCLAF1,synonymous_variant,p.=,ENST00000530767,;BCLAF1,synonymous_variant,p.=,ENST00000392348,;BCLAF1,synonymous_variant,p.=,ENST00000031135,;BCLAF1,synonymous_variant,p.=,ENST00000534762,;BCLAF1,non_coding_transcript_exon_variant,,ENST00000529917,;BCLAF1,synonymous_variant,p.=,ENST00000533422,;BCLAF1,3_prime_UTR_variant,,ENST00000527613,;BCLAF1,3_prime_UTR_variant,,ENST00000534269,;BCLAF1,3_prime_UTR_variant,,ENST00000532384,;BCLAF1,3_prime_UTR_variant,,ENST00000530429,;BCLAF1,non_coding_transcript_exon_variant,,ENST00000529522,;BCLAF1,non_coding_transcript_exon_variant,,ENST00000526228,;	uc003qgx.1	c.2640A>G	2893/7263	3	3			c.2640A>G						6	SNP	c.(2638-2640)AAA>AAG	7	7			ovary(1)	1	Broad	BCL2-associated transcription factor 1 isoform			136582520		0.428	ENSG00000029363	1351	g.chr6:136582520T>C	induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	Colon(142;1534 1789 5427 7063 28491)			Colon(142;1534 1789 5427 7063 28491)			135.171282	KEEP	44	35	-1	233	254	44	35	-1	203.563466	233	254	0.13447	1	0	0	0	0	0	0	1	0	--	--		0	C			BCLAF1_uc011edb.1_Silent_p.K159K|BCLAF1_uc003qgw.1_Silent_p.K707K|BCLAF1_uc003qgy.1_Silent_p.K829K|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.K878K	232	GBM-32-1982-TP	p.K880K	T	TGCTACCTGATTTTTTGAAGT	NM_014739	NP_055554	136582520	Q9NYF8	BCLF1_HUMAN	0		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	12	2893	-	C	C	Colorectal(23;0.24)		Silent	880						
BCLAF1	0	broad.mit.edu	GRCh37	6	136597032	136597032	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01	TCGA-32-2491-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000531224.1:c.1631G>A	p.Arg544His	p.R544H	ENST00000531224	NM_001077441.1	544	cGt/cAt	0	T:0		1			T	R/H	uc003qgx.1	protein_coding	YES	CCDS5177.1			1631/2763									ovary(1)	1	c.(1630-1632)CGT>CAT			Pfam_domain:PF15440,hmmpanther:PTHR15268,hmmpanther:PTHR15268:SF4	BCL2-associated transcription factor 1 isoform			T:0.0001	ENSP00000435210		13-May	0.000115	9.61E-05	8.70E-05	0.000116	0.000151	0.00015			rs368236501,COSM739980	13-May	.		ENST00000531224	Transcript			induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	ENSG00000029363	g.chr6:136597032C>T	16863			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=BCLF1_HUMAN&rb=1&re=555&var=R544H	NA	getma.org/?cm=var&var=hg19,6,136597032,C,T&fts=all	R544H	--	--	1																																		BCLAF1_uc003qgw.1_Missense_Mutation_p.R371H|BCLAF1_uc003qgy.1_Missense_Mutation_p.R542H|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R542H	0,1	1		possibly_damaging(0.715)	p.R544H	NM_014739	NP_055554		tolerated(0.09)	0,1	BCLF1_HUMAN	BCLAF1	HGNC	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	B0AZU3_HUMAN		5	1884	-	Colorectal(23;0.24)		UPI000006FCE7	544					SNV	BCLAF1,missense_variant,p.Arg544His,ENST00000531224,NM_001077441.1,NM_014739.2;BCLAF1,missense_variant,p.Arg542His,ENST00000353331,NM_001077440.1;BCLAF1,missense_variant,p.Arg544His,ENST00000527536,;BCLAF1,missense_variant,p.Arg542His,ENST00000527759,;BCLAF1,missense_variant,p.Arg371His,ENST00000530767,;BCLAF1,missense_variant,p.Arg542His,ENST00000392348,;BCLAF1,missense_variant,p.Arg544His,ENST00000529826,;BCLAF1,missense_variant,p.Arg544His,ENST00000527613,;BCLAF1,missense_variant,p.Arg369His,ENST00000534269,;BCLAF1,missense_variant,p.Arg544His,ENST00000532384,;BCLAF1,missense_variant,p.Arg542His,ENST00000530429,;BCLAF1,3_prime_UTR_variant,,ENST00000533621,;BCLAF1,upstream_gene_variant,,ENST00000476194,;BCLAF1,downstream_gene_variant,,ENST00000528229,;BCLAF1,upstream_gene_variant,,ENST00000532076,;BCLAF1,upstream_gene_variant,,ENST00000534792,;	uc003qgx.1	c.1631G>A	1884/7263	2	2			c.1631G>A						6	SNP	c.(1630-1632)CGT>CAT	47	47			ovary(1)	1	Broad	BCL2-associated transcription factor 1 isoform			136597032		0.433	ENSG00000029363	1351	g.chr6:136597032C>T	induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	Colon(142;1534 1789 5427 7063 28491)			Colon(142;1534 1789 5427 7063 28491)			33.433025	KEEP	26	25	-1	210	251	26	25	-1	104.354807	210	251	0.100897	1	0	0	0	0	1	0	0	0	--	--		0	T			BCLAF1_uc003qgw.1_Missense_Mutation_p.R371H|BCLAF1_uc003qgy.1_Missense_Mutation_p.R542H|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R542H	235	GBM-32-2491-TP	p.R544H	C	GACTTCAGGACGGTGAGAATC	NM_014739	NP_055554	136597032	Q9NYF8	BCLF1_HUMAN	0		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	5	1884	-	T	T	Colorectal(23;0.24)		Missense_Mutation	544						
BCOR	54880	broad.mit.edu	GRCh37	X	39932171	39932171	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0166-01	TCGA-06-0166-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378444.4:c.2428C>T	p.Arg810Ter	p.R810*	ENST00000378444	NM_001123385.1	810	Cga/Tga	0			1			A	R/*	uc004den.3	protein_coding	YES	CCDS48093.1			2428/5268									ovary(2)|kidney(1)|central_nervous_system(1)	4	c.(2428-2430)CGA>TGA			hmmpanther:PTHR24117,hmmpanther:PTHR24117:SF8	BCL-6 interacting corepressor isoform c				ENSP00000367705		15-Apr									COSM2150192,COSM2150191	15-Apr	.		ENST00000378444	Transcript	1		heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	ENSG00000183337	g.chrX:39932171G>A	20893			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,X,39932171,G,A&fts=all	R810*	--	--	1																																		BCOR_uc004dep.3_Nonsense_Mutation_p.R810*|BCOR_uc004deo.3_Nonsense_Mutation_p.R810*|BCOR_uc004dem.3_Nonsense_Mutation_p.R810*|BCOR_uc004deq.3_Nonsense_Mutation_p.R810*	1,1	1			p.R810*	NM_001123385	NP_001116857			1,1	BCOR_HUMAN	BCOR	HGNC	Q6W2J9	BCOR_HUMAN			H9A532_HUMAN,H7BZ37_HUMAN,C9JHP3_HUMAN,B3KTC2_HUMAN		4	2720	-			UPI00002318CF	810					SNV	BCOR,stop_gained,p.Arg810Ter,ENST00000342274,NM_001123383.1;BCOR,stop_gained,p.Arg810Ter,ENST00000378444,NM_001123385.1;BCOR,stop_gained,p.Arg810Ter,ENST00000378455,NM_001123384.1;BCOR,stop_gained,p.Arg810Ter,ENST00000397354,NM_017745.5;BCOR,stop_gained,p.Arg810Ter,ENST00000406200,;BCOR,upstream_gene_variant,,ENST00000378463,;BCOR,downstream_gene_variant,,ENST00000412952,;BCOR,non_coding_transcript_exon_variant,,ENST00000490976,;	uc004den.3	c.2428C>T	2657/6358	5	2			c.2428C>T						23	SNP	c.(2428-2430)CGA>TGA	20	20			ovary(2)|kidney(1)|central_nervous_system(1)	4	Broad	BCL-6 interacting corepressor isoform c			39932171		0.522	ENSG00000183337	1354	g.chrX:39932171G>A	heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding							219.656776	KEEP	41	33	-1	41	25	41	33	-1	219.825276	41	25	0.538462	1	0	0	0	0	0	1	0	0	--	--		0	A			BCOR_uc004dep.3_Nonsense_Mutation_p.R810*|BCOR_uc004deo.3_Nonsense_Mutation_p.R810*|BCOR_uc004dem.3_Nonsense_Mutation_p.R810*|BCOR_uc004deq.3_Nonsense_Mutation_p.R810*	31	GBM-06-0166-TP	p.R810*	G	GGTTCTTCTCGGAGAAGGTCT	NM_001123385	NP_001116857	39932171	Q6W2J9	BCOR_HUMAN	0			4	2720	-	A	A			Nonsense_Mutation	810						
BCOR	54880	broad.mit.edu	GRCh37	X	39931847	39931847	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0195-01	TCGA-06-0195-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378444.4:c.2752C>T	p.Gln918Ter	p.Q918*	ENST00000378444	NM_001123385.1	918	Caa/Taa	0			1			A	Q/*	uc004den.3	protein_coding	YES	CCDS48093.1			2752/5268									ovary(2)|kidney(1)|central_nervous_system(1)	4	c.(2752-2754)CAA>TAA			hmmpanther:PTHR24117,hmmpanther:PTHR24117:SF8	BCL-6 interacting corepressor isoform c				ENSP00000367705		15-Apr									COSM3406364,COSM3406363	15-Apr	.		ENST00000378444	Transcript	1		heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	ENSG00000183337	g.chrX:39931847G>A	20893			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,X,39931847,G,A&fts=all	Q918*	--	--	1																																		BCOR_uc004dep.3_Nonsense_Mutation_p.Q918*|BCOR_uc004deo.3_Nonsense_Mutation_p.Q918*|BCOR_uc004dem.3_Nonsense_Mutation_p.Q918*|BCOR_uc004deq.3_Nonsense_Mutation_p.Q918*	1,1	1			p.Q918*	NM_001123385	NP_001116857			1,1	BCOR_HUMAN	BCOR	HGNC	Q6W2J9	BCOR_HUMAN			H9A532_HUMAN,H7BZ37_HUMAN,C9JHP3_HUMAN,B3KTC2_HUMAN		4	3044	-			UPI00002318CF	918					SNV	BCOR,stop_gained,p.Gln918Ter,ENST00000342274,NM_001123383.1;BCOR,stop_gained,p.Gln918Ter,ENST00000378444,NM_001123385.1;BCOR,stop_gained,p.Gln918Ter,ENST00000378455,NM_001123384.1;BCOR,stop_gained,p.Gln918Ter,ENST00000397354,NM_017745.5;BCOR,stop_gained,p.Gln918Ter,ENST00000406200,;BCOR,upstream_gene_variant,,ENST00000378463,;BCOR,non_coding_transcript_exon_variant,,ENST00000490976,;	uc004den.3	c.2752C>T	2981/6358	5	2			c.2752C>T						23	SNP	c.(2752-2754)CAA>TAA	42	42			ovary(2)|kidney(1)|central_nervous_system(1)	4	Broad	BCL-6 interacting corepressor isoform c			39931847		0.527	ENSG00000183337	1354	g.chrX:39931847G>A	heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding							198.498704	KEEP	40	28	-1	8	8	40	28	-1	204.582887	8	8	0.792208	1	0	0	0	0	0	1	0	0	--	--		0	A			BCOR_uc004dep.3_Nonsense_Mutation_p.Q918*|BCOR_uc004deo.3_Nonsense_Mutation_p.Q918*|BCOR_uc004dem.3_Nonsense_Mutation_p.Q918*|BCOR_uc004deq.3_Nonsense_Mutation_p.Q918*	45	GBM-06-0195-TP	p.Q918*	G	GGATCCTCTTGGGTTTTACCA	NM_001123385	NP_001116857	39931847	Q6W2J9	BCOR_HUMAN	0			4	3044	-	A	A			Nonsense_Mutation	918						
BCOR	54880	broad.mit.edu	GRCh37	X	39930272	39930272	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0876-01	TCGA-06-0876-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378444.4:c.3192G>A	p.Ser1064=	p.S1064=	ENST00000378444	NM_001123385.1	1064	tcG/tcA	0			1			T	S	uc004den.3	protein_coding	YES	CCDS48093.1			3192/5268									ovary(2)|kidney(1)|central_nervous_system(1)	4	c.(3190-3192)TCG>TCA			hmmpanther:PTHR24117,hmmpanther:PTHR24117:SF8	BCL-6 interacting corepressor isoform c				ENSP00000367705		15-Jun	1.65E-05					2.08E-05			rs761604189,COSM3406362,COSM3406361	15-Jun	.		ENST00000378444	Transcript	1		heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	ENSG00000183337	g.chrX:39930272C>T	20893			LOW								--	--	1																																		BCOR_uc004dep.3_Silent_p.S1064S|BCOR_uc004deo.3_Silent_p.S1046S|BCOR_uc004dem.3_Silent_p.S1064S	0,1,1	1			p.S1064S	NM_001123385	NP_001116857			0,1,1	BCOR_HUMAN	BCOR	HGNC	Q6W2J9	BCOR_HUMAN			H9A532_HUMAN,H7BZ37_HUMAN,C9JHP3_HUMAN,B3KTC2_HUMAN		6	3484	-			UPI00002318CF	1064					SNV	BCOR,synonymous_variant,p.=,ENST00000342274,NM_001123383.1;BCOR,synonymous_variant,p.=,ENST00000378444,NM_001123385.1;BCOR,synonymous_variant,p.=,ENST00000378455,NM_001123384.1;BCOR,synonymous_variant,p.=,ENST00000397354,NM_017745.5;BCOR,synonymous_variant,p.=,ENST00000406200,;BCOR,upstream_gene_variant,,ENST00000378463,;BCOR,downstream_gene_variant,,ENST00000490976,;	uc004den.3	c.3192G>A	3421/6358	1	1			c.3192G>A						23	SNP	c.(3190-3192)TCG>TCA	11	11			ovary(2)|kidney(1)|central_nervous_system(1)	4	Broad	BCL-6 interacting corepressor isoform c			39930272		0.517	ENSG00000183337	1354	g.chrX:39930272C>T	heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding							1.867335	KEEP	6	7	-1	120	47	6	7	-1	30.167542	120	47	0.081761	1	0	0	0	0	0	0	1	0	--	--		0	T			BCOR_uc004dep.3_Silent_p.S1064S|BCOR_uc004deo.3_Silent_p.S1046S|BCOR_uc004dem.3_Silent_p.S1064S	72	GBM-06-0876-TP	p.S1064S	C	CCAGGGTGACCGACTTTGGCT	NM_001123385	NP_001116857	39930272	Q6W2J9	BCOR_HUMAN	0			6	3484	-	T	T			Silent	1064						
BCOR	54880	broad.mit.edu	GRCh37	X	39922999	39923002	+	frameshift_variant	Frame_Shift_Del	DEL	CTTC	CTTC	-			TCGA-06-1804-01	TCGA-06-1804-01	CTTC	CTTC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378444.4:c.3706_3709del	p.Glu1236Ter	p.E1236*	ENST00000378444	NM_001123385.1	1236	GAAGtg/tg	0			1			-	EV/X	uc004den.3	protein_coding	YES	CCDS48093.1			3706-3709/5268									ovary(2)|kidney(1)|central_nervous_system(1)	4	c.(3706-3711)GAAGTGfs			hmmpanther:PTHR24117,hmmpanther:PTHR24117:SF8	BCL-6 interacting corepressor isoform c				ENSP00000367705		15-Aug										15-Aug	.		ENST00000378444	Transcript	1		heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	ENSG00000183337	g.chrX:39922999_39923002delCTTC	20893			HIGH								--	--	1																																		BCOR_uc004dep.3_Frame_Shift_Del_p.E1202fs|BCOR_uc004deo.3_Frame_Shift_Del_p.E1184fs|BCOR_uc010nhb.2_5'Flank|BCOR_uc004dem.3_Frame_Shift_Del_p.E1202fs		1			p.E1236fs	NM_001123385	NP_001116857				BCOR_HUMAN	BCOR	HGNC	Q6W2J9	BCOR_HUMAN			H9A532_HUMAN,H7BZ37_HUMAN,C9JHP3_HUMAN,B3KTC2_HUMAN		8	3998_4001	-			UPI00002318CF	1236_1237					deletion	BCOR,frameshift_variant,p.Glu1202Ter,ENST00000342274,NM_001123383.1;BCOR,frameshift_variant,p.Glu1236Ter,ENST00000378444,NM_001123385.1;BCOR,frameshift_variant,p.Glu1184Ter,ENST00000378455,NM_001123384.1;BCOR,frameshift_variant,p.Glu1202Ter,ENST00000397354,NM_017745.5;BCOR,frameshift_variant,p.Glu1202Ter,ENST00000406200,;BCOR,frameshift_variant,p.Glu79Ter,ENST00000378463,;BCOR,frameshift_variant,p.Glu106Ter,ENST00000413905,;BCOR,upstream_gene_variant,,ENST00000442018,;BCOR,upstream_gene_variant,,ENST00000427012,;	uc004den.3	c.3706_3709delGAAG	3935-3938/6358	5	5			c.3706_3709delGAAG						23	DEL	c.(3706-3711)GAAGTGfs	27	27			ovary(2)|kidney(1)|central_nervous_system(1)	4	Broad	BCL-6 interacting corepressor isoform c			39923002		0.559	ENSG00000183337	1354	g.chrX:39922999_39923002delCTTC	heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding																				0.04	1	1	0	1	0	0	0	0	0	--	--		0	-			BCOR_uc004dep.3_Frame_Shift_Del_p.E1202fs|BCOR_uc004deo.3_Frame_Shift_Del_p.E1184fs|BCOR_uc010nhb.2_5'Flank|BCOR_uc004dem.3_Frame_Shift_Del_p.E1202fs	79	GBM-06-1804-TP	p.E1236fs	CTTC	GCCTGGGTCACTTCCTTCCTGCTT	NM_001123385	NP_001116857	39922999	Q6W2J9	BCOR_HUMAN	0			8	3998_4001	-	-	-			Frame_Shift_Del	1236_1237						
BCOR	54880	broad.mit.edu	GRCh37	X	39923055	39923055	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-2559-01	TCGA-06-2559-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378444.4:c.3653G>A	p.Trp1218Ter	p.W1218*	ENST00000378444	NM_001123385.1	1218	tGg/tAg	0			1			T	W/*	uc004den.3	protein_coding	YES	CCDS48093.1			3653/5268									ovary(2)|kidney(1)|central_nervous_system(1)	4	c.(3652-3654)TGG>TAG			hmmpanther:PTHR24117,hmmpanther:PTHR24117:SF8	BCL-6 interacting corepressor isoform c				ENSP00000367705		15-Aug									COSM2152715,COSM2152714,COSM3406360	15-Aug	.		ENST00000378444	Transcript	1		heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	ENSG00000183337	g.chrX:39923055C>T	20893			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,X,39923055,C,T&fts=all	W1218*	--	--	1																																		BCOR_uc004dep.3_Nonsense_Mutation_p.W1184*|BCOR_uc004deo.3_Nonsense_Mutation_p.W1166*|BCOR_uc010nhb.2_5'Flank|BCOR_uc004dem.3_Nonsense_Mutation_p.W1184*	1,1,1	1			p.W1218*	NM_001123385	NP_001116857			1,1,1	BCOR_HUMAN	BCOR	HGNC	Q6W2J9	BCOR_HUMAN			H9A532_HUMAN,H7BZ37_HUMAN,C9JHP3_HUMAN,B3KTC2_HUMAN		8	3945	-			UPI00002318CF	1218					SNV	BCOR,stop_gained,p.Trp1184Ter,ENST00000342274,NM_001123383.1;BCOR,stop_gained,p.Trp1218Ter,ENST00000378444,NM_001123385.1;BCOR,stop_gained,p.Trp1166Ter,ENST00000378455,NM_001123384.1;BCOR,stop_gained,p.Trp1184Ter,ENST00000397354,NM_017745.5;BCOR,stop_gained,p.Trp1184Ter,ENST00000406200,;BCOR,stop_gained,p.Trp61Ter,ENST00000378463,;BCOR,stop_gained,p.Trp88Ter,ENST00000413905,;BCOR,upstream_gene_variant,,ENST00000442018,;BCOR,upstream_gene_variant,,ENST00000427012,;	uc004den.3	c.3653G>A	3882/6358	5	2			c.3653G>A						23	SNP	c.(3652-3654)TGG>TAG	29	29			ovary(2)|kidney(1)|central_nervous_system(1)	4	Broad	BCL-6 interacting corepressor isoform c			39923055		0.542	ENSG00000183337	1354	g.chrX:39923055C>T	heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding							216.497014	KEEP	42	40	-1	7	4	42	40	-1	227.759202	7	4	0.891892	1	0	0	0	0	0	1	0	0	--	--		0	T			BCOR_uc004dep.3_Nonsense_Mutation_p.W1184*|BCOR_uc004deo.3_Nonsense_Mutation_p.W1166*|BCOR_uc010nhb.2_5'Flank|BCOR_uc004dem.3_Nonsense_Mutation_p.W1184*	83	GBM-06-2559-TP	p.W1218*	C	CTGCTGCTCCCATCGTTCTCT	NM_001123385	NP_001116857	39923055	Q6W2J9	BCOR_HUMAN	0			8	3945	-	T	T			Nonsense_Mutation	1218						
BCOR	0	broad.mit.edu	GRCh37	X	39932304	39932304	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378444.4:c.2295C>T	p.Ser765=	p.S765=	ENST00000378444	NM_001123385.1	765	tcC/tcT	0			1			A	S	uc004den.3	protein_coding	YES	CCDS48093.1			2295/5268									ovary(2)|kidney(1)|central_nervous_system(1)	4	c.(2293-2295)TCC>TCT			hmmpanther:PTHR24117,hmmpanther:PTHR24117:SF8	BCL-6 interacting corepressor isoform c				ENSP00000367705		15-Apr									COSM3406366,COSM3406365	15-Apr	.		ENST00000378444	Transcript	1		heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	ENSG00000183337	g.chrX:39932304G>A	20893			LOW								--	--	1																																		BCOR_uc004dep.3_Silent_p.S765S|BCOR_uc004deo.3_Silent_p.S765S|BCOR_uc004dem.3_Silent_p.S765S|BCOR_uc004deq.3_Silent_p.S765S	1,1	1			p.S765S	NM_001123385	NP_001116857			1,1	BCOR_HUMAN	BCOR	HGNC	Q6W2J9	BCOR_HUMAN			H9A532_HUMAN,H7BZ37_HUMAN,C9JHP3_HUMAN,B3KTC2_HUMAN		4	2587	-			UPI00002318CF	765					SNV	BCOR,synonymous_variant,p.=,ENST00000342274,NM_001123383.1;BCOR,synonymous_variant,p.=,ENST00000378444,NM_001123385.1;BCOR,synonymous_variant,p.=,ENST00000378455,NM_001123384.1;BCOR,synonymous_variant,p.=,ENST00000397354,NM_017745.5;BCOR,synonymous_variant,p.=,ENST00000406200,;BCOR,upstream_gene_variant,,ENST00000378463,;BCOR,downstream_gene_variant,,ENST00000412952,;BCOR,non_coding_transcript_exon_variant,,ENST00000490976,;	uc004den.3	c.2295C>T	2524/6358	2	2			c.2295C>T						23	SNP	c.(2293-2295)TCC>TCT	48	48			ovary(2)|kidney(1)|central_nervous_system(1)	4	Broad	BCL-6 interacting corepressor isoform c			39932304		0.512	ENSG00000183337	1354	g.chrX:39932304G>A	heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding							239.701104	KEEP	48	38	-1	124	79	48	38	-1	249.276352	124	79	0.299625	1	0	0	0	0	0	0	1	0	--	--		0	A			BCOR_uc004dep.3_Silent_p.S765S|BCOR_uc004deo.3_Silent_p.S765S|BCOR_uc004dem.3_Silent_p.S765S|BCOR_uc004deq.3_Silent_p.S765S	159	GBM-19-1390-TP	p.S765S	G	CCAAAATCTCGGAAAACCGAT	NM_001123385	NP_001116857	39932304	Q6W2J9	BCOR_HUMAN	0			4	2587	-	A	A			Silent	765						
BCOR	0	broad.mit.edu	GRCh37	X	39911637	39911637	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-32-2495-01	TCGA-32-2495-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378444.4:c.4993C>A	p.Leu1665Met	p.L1665M	ENST00000378444	NM_001123385.1	1665	Ctg/Atg	0			1			T	L/M	uc004den.3	protein_coding	YES	CCDS48093.1			4993/5268									ovary(2)|kidney(1)|central_nervous_system(1)	4	c.(4993-4995)CTG>ATG			hmmpanther:PTHR24117,hmmpanther:PTHR24117:SF8	BCL-6 interacting corepressor isoform c				ENSP00000367705		15/15	2.47E-05					2.12E-05			rs767059109,COSM3748196,COSM3748195,COSM3748197	15/15	.		ENST00000378444	Transcript	1		heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	ENSG00000183337	g.chrX:39911637G>T	20893			MODERATE		2.16	medium	getma.org/?cm=msa&ty=f&p=BCOR_HUMAN&rb=1561&re=1755&var=L1665M	NA	getma.org/?cm=var&var=hg19,X,39911637,G,T&fts=all	L1665M	--	--	1																																		BCOR_uc004dep.3_Missense_Mutation_p.L1631M|BCOR_uc004deo.3_Missense_Mutation_p.L1613M|BCOR_uc010nhb.2_3'UTR|BCOR_uc004dem.3_Missense_Mutation_p.L1631M	0,1,1,1	1		probably_damaging(0.998)	p.L1665M	NM_001123385	NP_001116857		deleterious(0)	0,1,1,1	BCOR_HUMAN	BCOR	HGNC	Q6W2J9	BCOR_HUMAN			H9A532_HUMAN,H7BZ37_HUMAN,C9JHP3_HUMAN,B3KTC2_HUMAN		15	5285	-			UPI00002318CF	1665					SNV	BCOR,stop_gained,p.Tyr281Ter,ENST00000427012,;BCOR,missense_variant,p.Leu1631Met,ENST00000342274,NM_001123383.1;BCOR,missense_variant,p.Leu1665Met,ENST00000378444,NM_001123385.1;BCOR,missense_variant,p.Leu1613Met,ENST00000378455,NM_001123384.1;BCOR,missense_variant,p.Leu1631Met,ENST00000397354,NM_017745.5;BCOR,missense_variant,p.Leu508Met,ENST00000378463,;BCOR,missense_variant,p.Leu535Met,ENST00000413905,;BCOR,3_prime_UTR_variant,,ENST00000442018,;	uc004den.3	c.4993C>A	5222/6358	2	2			c.4993C>A						23	SNP	c.(4993-4995)CTG>ATG	43	43			ovary(2)|kidney(1)|central_nervous_system(1)	4	Broad	BCL-6 interacting corepressor isoform c			39911637		0.393	ENSG00000183337	1354	g.chrX:39911637G>T	heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding							-22.432376	KEEP	6	8	0.428571429	74	93	6	8	0.428571429	6.764513	74	93	0.039683	1	0	0	0	0	1	0	0	0	--	--		0	T			BCOR_uc004dep.3_Missense_Mutation_p.L1631M|BCOR_uc004deo.3_Missense_Mutation_p.L1613M|BCOR_uc010nhb.2_3'UTR|BCOR_uc004dem.3_Missense_Mutation_p.L1631M	237	GBM-32-2495-TP	p.L1665M	G	TCCGAAAGCAGTAGCCAGTTT	NM_001123385	NP_001116857	39911637	Q6W2J9	BCOR_HUMAN	0			15	5285	-	T	T			Missense_Mutation	1665						
BCOR	0	broad.mit.edu	GRCh37	X	39933293	39933293	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-87-5896-01	TCGA-87-5896-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378444.4:c.1306G>A	p.Val436Ile	p.V436I	ENST00000378444	NM_001123385.1	436	Gtc/Atc	0			1			T	V/I	uc004den.3	protein_coding	YES	CCDS48093.1			1306/5268									ovary(2)|kidney(1)|central_nervous_system(1)	4	c.(1306-1308)GTC>ATC			hmmpanther:PTHR24117,hmmpanther:PTHR24117:SF8	BCL-6 interacting corepressor isoform c				ENSP00000367705		15-Apr									COSM3406368,COSM3406367	15-Apr	.		ENST00000378444	Transcript	1		heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	ENSG00000183337	g.chrX:39933293C>T	20893			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=BCOR_HUMAN&rb=429&re=754&var=V436I	NA	getma.org/?cm=var&var=hg19,X,39933293,C,T&fts=all	V436I	--	--	1																																		BCOR_uc004dep.3_Missense_Mutation_p.V436I|BCOR_uc004deo.3_Missense_Mutation_p.V436I|BCOR_uc004dem.3_Missense_Mutation_p.V436I|BCOR_uc004deq.3_Missense_Mutation_p.V436I	1,1	1		benign(0.007)	p.V436I	NM_001123385	NP_001116857		tolerated(0.2)	1,1	BCOR_HUMAN	BCOR	HGNC	Q6W2J9	BCOR_HUMAN			H9A532_HUMAN,H7BZ37_HUMAN,C9JHP3_HUMAN,B3KTC2_HUMAN		4	1598	-			UPI00002318CF	436					SNV	BCOR,missense_variant,p.Val436Ile,ENST00000342274,NM_001123383.1;BCOR,missense_variant,p.Val436Ile,ENST00000378444,NM_001123385.1;BCOR,missense_variant,p.Val436Ile,ENST00000378455,NM_001123384.1;BCOR,missense_variant,p.Val436Ile,ENST00000397354,NM_017745.5;BCOR,missense_variant,p.Val436Ile,ENST00000406200,;BCOR,downstream_gene_variant,,ENST00000412952,;BCOR,non_coding_transcript_exon_variant,,ENST00000490976,;	uc004den.3	c.1306G>A	1535/6358	1	1			c.1306G>A						23	SNP	c.(1306-1308)GTC>ATC	9	9			ovary(2)|kidney(1)|central_nervous_system(1)	4	Broad	BCL-6 interacting corepressor isoform c			39933293		0.527	ENSG00000183337	1354	g.chrX:39933293C>T	heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding							55.618991	KEEP	9	10	-1	13	17	9	10	-1	55.797112	13	17	0.431818	1	0	0	0	0	1	0	0	0	--	--		0	T			BCOR_uc004dep.3_Missense_Mutation_p.V436I|BCOR_uc004deo.3_Missense_Mutation_p.V436I|BCOR_uc004dem.3_Missense_Mutation_p.V436I|BCOR_uc004deq.3_Missense_Mutation_p.V436I	291	GBM-87-5896-TP	p.V436I	C	TTATCTGTGACGTCTTTGGTA	NM_001123385	NP_001116857	39933293	Q6W2J9	BCOR_HUMAN	0			4	1598	-	T	T			Missense_Mutation	436						
BCOR	54880		GRCh37	X	39932184	39932185	+	stop_gained,frameshift_variant	Nonsense_Mutation	INS	-	-	CAGAC			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000378444.4:c.2414_2415insGTCTG	p.Tyr805Ter	p.Y805*	ENST00000378444	NM_001123385.1	805	tac/taGTCTGc	0																																																																																																																																																																																																																																												
BCOR	54880		GRCh37	X	39930364	39930364	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000378444.4:c.3100G>T	p.Gly1034Cys	p.G1034C	ENST00000378444	NM_001123385.1	1034	Ggc/Tgc	0																																																																																																																																																																																																																																												
BCORL1	63035	broad.mit.edu	GRCh37	X	129155121	129155121	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0649-01	TCGA-06-0649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000540052.1:c.3603G>A	p.Glu1201=	p.E1201=	ENST00000540052	NM_021946.4	1201	gaG/gaA	0			1			A	E	uc004evb.1	protein_coding		CCDS14616.1			3603/5136									ovary(4)|breast(2)|lung(1)	7	c.(3601-3603)GAG>GAA			hmmpanther:PTHR24117:SF6,hmmpanther:PTHR24117	BCL6 co-repressor-like 1				ENSP00000218147		13-May									COSM2151435,COSM3405957	13-May	.		ENST00000218147	Transcript			chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		ENSG00000085185	g.chrX:129155121G>A	25657			LOW								--	--	1																																		BCORL1_uc010nrd.1_Silent_p.E1103E	1,1				p.E1201E	NM_021946	NP_068765			1,1	BCORL_HUMAN	BCORL1	HGNC	Q5H9F3	BCORL_HUMAN			Q9HAM3_HUMAN		5	3717	+			UPI00001B4EFB	1201					SNV	BCORL1,synonymous_variant,p.=,ENST00000540052,NM_021946.4;BCORL1,synonymous_variant,p.=,ENST00000303743,;BCORL1,synonymous_variant,p.=,ENST00000218147,;BCORL1,synonymous_variant,p.=,ENST00000359304,;BCORL1,synonymous_variant,p.=,ENST00000456822,;BCORL1,synonymous_variant,p.=,ENST00000441294,;	uc004evb.1	c.3603G>A	3800/6860	2	2			c.3603G>A						23	SNP	c.(3601-3603)GAG>GAA	24	24			ovary(4)|breast(2)|lung(1)	7	Broad	BCL6 co-repressor-like 1			129155121		0.637	ENSG00000085185	1355	g.chrX:129155121G>A	chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus								16.981057	KEEP	6	4	-1	12	17	6	4	-1	18.979966	12	17	0.242424	1	0	0	0	0	0	0	1	0	--	--		0	A			BCORL1_uc010nrd.1_Silent_p.E1103E	62	GBM-06-0649-TP	p.E1201E	G	ACAGCCACGAGGAAGGTAGGC	NM_021946	NP_068765	129155121	Q5H9F3	BCORL_HUMAN	0			5	3717	+	A	A			Silent	1201						
BCORL1	63035	broad.mit.edu	GRCh37	X	129162640	129162640	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0686-01	TCGA-06-0686-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000540052.1:c.4109C>T	p.Ser1370Phe	p.S1370F	ENST00000540052	NM_021946.4	1370	tCc/tTc	0			1			T	S/F	uc004evb.1	protein_coding		CCDS14616.1			4109/5136									ovary(4)|breast(2)|lung(1)	7	c.(4108-4110)TCC>TTC			hmmpanther:PTHR24117:SF6,hmmpanther:PTHR24117	BCL6 co-repressor-like 1				ENSP00000218147		13-Aug									COSM3405958,COSM3405959	13-Aug	.		ENST00000218147	Transcript			chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		ENSG00000085185	g.chrX:129162640C>T	25657			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=BCORL_HUMAN&rb=1201&re=1400&var=S1370F	NA	getma.org/?cm=var&var=hg19,X,129162640,C,T&fts=all	S1370F	--	--	1																																OREG0019921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	BCORL1_uc010nrd.1_Missense_Mutation_p.S1142F|BCORL1_uc004evc.1_Missense_Mutation_p.S132F	1,1			possibly_damaging(0.786)	p.S1370F	NM_021946	NP_068765			1,1	BCORL_HUMAN	BCORL1	HGNC	Q5H9F3	BCORL_HUMAN			Q9HAM3_HUMAN		8	4223	+			UPI00001B4EFB	1370					SNV	BCORL1,missense_variant,p.Ser1370Phe,ENST00000540052,NM_021946.4;BCORL1,missense_variant,p.Ser1370Phe,ENST00000303743,;BCORL1,missense_variant,p.Ser1370Phe,ENST00000218147,;BCORL1,missense_variant,p.Ser1240Phe,ENST00000359304,;BCORL1,missense_variant,p.Ser970Phe,ENST00000456822,;BCORL1,missense_variant,p.Ser676Phe,ENST00000441294,;	uc004evb.1	c.4109C>T	4306/6860	2	2			c.4109C>T						23	SNP	c.(4108-4110)TCC>TTC	30	30			ovary(4)|breast(2)|lung(1)	7	Broad	BCL6 co-repressor-like 1			129162640		0.483	ENSG00000085185	1355	g.chrX:129162640C>T	chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus								-14.553689	KEEP	7	4	-1	97	71	7	4	-1	18.018739	97	71	0.056962	1	0	0	0	0	1	0	0	0	--	--		0	T	OREG0019921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	BCORL1_uc010nrd.1_Missense_Mutation_p.S1142F|BCORL1_uc004evc.1_Missense_Mutation_p.S132F	64	GBM-06-0686-TP	p.S1370F	C	AAGACTTCCTCCTCCCAAAGT	NM_021946	NP_068765	129162640	Q5H9F3	BCORL_HUMAN	0			8	4223	+	T	T			Missense_Mutation	1370						
BCORL1	0	broad.mit.edu	GRCh37	X	129149265	129149265	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0790-01	TCGA-14-0790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000218147.7:c.2517G>A	p.Ala839=	p.A839=	ENST00000218147		839	gcG/gcA	0			1			A	A	uc004evb.1	protein_coding		CCDS14616.1			2517/5136									ovary(4)|breast(2)|lung(1)	7	c.(2515-2517)GCG>GCA			hmmpanther:PTHR24117:SF6,hmmpanther:PTHR24117	BCL6 co-repressor-like 1				ENSP00000218147		13-Apr									rs201695526,COSM3405955,COSM3405956	13-Apr	.		ENST00000218147	Transcript			chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		ENSG00000085185	g.chrX:129149265G>A	25657			LOW								--	--	1																																		BCORL1_uc010nrd.1_Silent_p.A741A	0,1,1				p.A839A	NM_021946	NP_068765			0,1,1	BCORL_HUMAN	BCORL1	HGNC	Q5H9F3	BCORL_HUMAN			Q9HAM3_HUMAN		4	2631	+			UPI00001B4EFB	839					SNV	BCORL1,synonymous_variant,p.=,ENST00000540052,NM_021946.4;BCORL1,synonymous_variant,p.=,ENST00000303743,;BCORL1,synonymous_variant,p.=,ENST00000218147,;BCORL1,synonymous_variant,p.=,ENST00000359304,;BCORL1,synonymous_variant,p.=,ENST00000456822,;BCORL1,synonymous_variant,p.=,ENST00000441294,;BCORL1,downstream_gene_variant,,ENST00000488135,;	uc004evb.1	c.2517G>A	2714/6860	2	2			c.2517G>A						23	SNP	c.(2515-2517)GCG>GCA	22	22			ovary(4)|breast(2)|lung(1)	7	Broad	BCL6 co-repressor-like 1			129149265		0.607	ENSG00000085185	1355	g.chrX:129149265G>A	chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus								251.311902	KEEP	38	61	-1	64	74	38	61	-1	252.424651	64	74	0.422535	1	0	0	0	0	0	0	1	0	--	--		0	A			BCORL1_uc010nrd.1_Silent_p.A741A	137	GBM-14-0790-TP	p.A839A	G	ACCACCAGGCGTCTCTGCTTT	NM_021946	NP_068765	129149265	Q5H9F3	BCORL_HUMAN	0			4	2631	+	A	A			Silent	839						
BCS1L	617	broad.mit.edu	GRCh37	2	219527689	219527689	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0128-01	TCGA-06-0128-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000431802.1:c.973C>T	p.Arg325Cys	p.R325C	ENST00000431802		325	Cgc/Tgc	0			1			T	R/C	uc002vio.2	protein_coding		CCDS2419.1			973/1260										0	c.(973-975)CGC>TGC			hmmpanther:PTHR23070:SF17,hmmpanther:PTHR23070,PROSITE_patterns:PS00674,Pfam_domain:PF00004,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	BCS1-like				ENSP00000352219		8-Jul	1.65E-05					3.00E-05			rs779892991,COSM3407576	8-Jul	.		ENST00000359273	Transcript	1		mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding	ENSG00000074582	g.chr2:219527689C>T	1020			MODERATE		3.31	medium	getma.org/?cm=msa&ty=f&p=BCS1_HUMAN&rb=226&re=355&var=R325C	getma.org/pdb.php?prot=BCS1_HUMAN&from=226&to=355&var=R325C	getma.org/?cm=var&var=hg19,2,219527689,C,T&fts=all	R325C	--	--	1																																		BCS1L_uc002vip.2_Missense_Mutation_p.R325C|BCS1L_uc002viq.2_Missense_Mutation_p.R325C|BCS1L_uc010fvu.2_Missense_Mutation_p.R325C|BCS1L_uc010fvv.2_Missense_Mutation_p.R325C|BCS1L_uc002vir.2_Missense_Mutation_p.R325C|BCS1L_uc002vis.2_Missense_Mutation_p.R325C	0,1			probably_damaging(1)	p.R325C	NM_004328	NP_004319		deleterious(0.05)	0,1	BCS1_HUMAN	BCS1L	HGNC	Q9Y276	BCS1_HUMAN		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Q53RT4_HUMAN,C9JAS4_HUMAN,C9J8G3_HUMAN,C9J4Q9_HUMAN,C9J1S9_HUMAN		7	1391	+		Renal(207;0.0474)	UPI0000073C9C	325			Mitochondrial matrix (Potential).		SNV	BCS1L,missense_variant,p.Arg325Cys,ENST00000431802,;BCS1L,missense_variant,p.Arg325Cys,ENST00000392111,;BCS1L,missense_variant,p.Arg325Cys,ENST00000392109,NM_004328.4,NM_001257343.1;BCS1L,missense_variant,p.Arg325Cys,ENST00000392110,NM_001257342.1;BCS1L,missense_variant,p.Arg325Cys,ENST00000439945,;BCS1L,missense_variant,p.Arg325Cys,ENST00000359273,NM_001257344.1,NM_001079866.1;BCS1L,missense_variant,p.Arg325Cys,ENST00000412366,;BCS1L,missense_variant,p.Arg107Cys,ENST00000426649,;BCS1L,missense_variant,p.Arg107Cys,ENST00000436603,;ZNF142,upstream_gene_variant,,ENST00000411696,;ZNF142,upstream_gene_variant,,ENST00000449707,NM_001105537.2;RNF25,downstream_gene_variant,,ENST00000295704,NM_022453.2;BCS1L,downstream_gene_variant,,ENST00000430322,;BCS1L,downstream_gene_variant,,ENST00000456050,;ZNF142,upstream_gene_variant,,ENST00000432460,;BCS1L,downstream_gene_variant,,ENST00000428880,;BCS1L,downstream_gene_variant,,ENST00000423377,;BCS1L,downstream_gene_variant,,ENST00000443791,;ZNF142,upstream_gene_variant,,ENST00000450560,;BCS1L,non_coding_transcript_exon_variant,,ENST00000465706,;BCS1L,non_coding_transcript_exon_variant,,ENST00000460579,;BCS1L,non_coding_transcript_exon_variant,,ENST00000477422,;ZNF142,upstream_gene_variant,,ENST00000450765,;ZNF142,upstream_gene_variant,,ENST00000433921,;RNF25,downstream_gene_variant,,ENST00000473034,;RNF25,downstream_gene_variant,,ENST00000463188,;BCS1L,downstream_gene_variant,,ENST00000471576,;BCS1L,downstream_gene_variant,,ENST00000490188,;RNF25,downstream_gene_variant,,ENST00000423170,;BCS1L,downstream_gene_variant,,ENST00000493376,;RNF25,downstream_gene_variant,,ENST00000474339,;RNF25,downstream_gene_variant,,ENST00000497832,;	uc002vio.2	c.973C>T	1110/1454	2	2			c.973C>T						2	SNP	c.(973-975)CGC>TGC	43	43				0	Broad	BCS1-like			219527689		0.577	ENSG00000074582	1357	g.chr2:219527689C>T	mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding							-6.391229	KEEP	7	5	-1	76	82	7	5	-1	22.762594	76	82	0.071429	1	0	0	0	0	1	0	0	0	--	--		0	T			BCS1L_uc002vip.2_Missense_Mutation_p.R325C|BCS1L_uc002viq.2_Missense_Mutation_p.R325C|BCS1L_uc010fvu.2_Missense_Mutation_p.R325C|BCS1L_uc010fvv.2_Missense_Mutation_p.R325C|BCS1L_uc002vir.2_Missense_Mutation_p.R325C|BCS1L_uc002vis.2_Missense_Mutation_p.R325C	14	GBM-06-0128-TP	p.R325C	C	CACCGAGGCCCGCATCGTGTT	NM_004328	NP_004319	219527689	Q9Y276	BCS1_HUMAN	0		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	1391	+	T	T		Renal(207;0.0474)	Missense_Mutation	325			Mitochondrial matrix (Potential).			
BDH1	622		GRCh37	3	197238913	197238913	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000392379.1:c.885G>A	p.Thr295=	p.T295=	ENST00000392379	NM_203314.2	295	acG/acA	0																																																																																																																																																																																																																																												
BDKRB1	0	broad.mit.edu	GRCh37	14	96730468	96730468	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4927-01	TCGA-76-4927-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216629.6:c.449G>A	p.Arg150Gln	p.R150Q	ENST00000216629	NM_000710.3	150	cGg/cAg	0			1			A	R/Q	uc001yfh.2	protein_coding	YES	CCDS9943.1			449/1062									ovary(3)	3	c.(448-450)CGG>CAG			Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24228,hmmpanther:PTHR24228:SF4,PROSITE_profiles:PS50262	bradykinin receptor B1				ENSP00000216629		3-Mar	0.000157		0.00165						rs749702636,COSM3401566	3-Mar	common_variant		ENST00000216629	Transcript			elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity	ENSG00000100739	g.chr14:96730468G>A	1029			MODERATE		1.865	low	getma.org/?cm=msa&ty=f&p=BKRB1_HUMAN&rb=54&re=312&var=R150Q	getma.org/pdb.php?prot=BKRB1_HUMAN&from=54&to=312&var=R150Q	getma.org/?cm=var&var=hg19,14,96730468,G,A&fts=all	R150Q	--	--	1																																		BDKRB1_uc010avn.2_Missense_Mutation_p.R150Q	0,1	1		benign(0.131)	p.R150Q	NM_000710	NP_000701		tolerated(0.16)	0,1	BKRB1_HUMAN	BDKRB1	HGNC	P46663	BKRB1_HUMAN		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)			3	657	+		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)	UPI0000000348	150			Cytoplasmic (Potential).		SNV	BDKRB1,missense_variant,p.Arg150Gln,ENST00000216629,NM_000710.3;BDKRB1,missense_variant,p.Arg150Gln,ENST00000553356,;RP11-404P21.8,downstream_gene_variant,,ENST00000553811,;RP11-404P21.3,intron_variant,,ENST00000553638,;BDKRB1,upstream_gene_variant,,ENST00000557122,;RP11-404P21.8,downstream_gene_variant,,ENST00000555847,;	uc001yfh.2	c.449G>A	1055/1687	1	1			c.449G>A						14	SNP	c.(448-450)CGG>CAG	62	62			ovary(3)	3	Broad	bradykinin receptor B1			96730468		0.632	ENSG00000100739	1360	g.chr14:96730468G>A	elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity							-19.501503	KEEP	1	3	-1	72	86	1	3	-1	7.575589	72	86	0.034783	1	0	0	0	0	1	0	0	0	--	--		0	A			BDKRB1_uc010avn.2_Missense_Mutation_p.R150Q	267	GBM-76-4927-TP	p.R150Q	G	AGGCAGCAGCGGCGGAGGCAG	NM_000710	NP_000701	96730468	P46663	BKRB1_HUMAN	0		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)	3	657	+	A	A		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)	Missense_Mutation	150			Cytoplasmic (Potential).			
BDP1	0	broad.mit.edu	GRCh37	5	70813215	70813215	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358731.4:c.4927G>A	p.Glu1643Lys	p.E1643K	ENST00000358731	NM_018429.2	1643	Gaa/Aaa	0			1			A	E/K	uc003kbp.1	protein_coding	YES	CCDS43328.1			4927/7875									skin(2)	2	c.(4927-4929)GAA>AAA			hmmpanther:PTHR22929:SF0,hmmpanther:PTHR22929	transcription factor-like nuclear regulator				ENSP00000351575		22/39									COSM3410388	22/39	.		ENST00000358731	Transcript			regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	ENSG00000145734	g.chr5:70813215G>A	13652			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=BDP1_HUMAN&rb=376&re=2622&var=E1643K	NA	getma.org/?cm=var&var=hg19,5,70813215,G,A&fts=all	E1643K	--	--	1																																		BDP1_uc003kbo.2_Missense_Mutation_p.E1643K	1	1		possibly_damaging(0.819)	p.E1643K	NM_018429	NP_060899		deleterious(0.03)	1	BDP1_HUMAN	BDP1	HGNC	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)			22	5190	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	UPI000020CA90	1643					SNV	BDP1,missense_variant,p.Glu1643Lys,ENST00000358731,NM_018429.2;BDP1,5_prime_UTR_variant,,ENST00000380675,;BDP1,non_coding_transcript_exon_variant,,ENST00000508917,;	uc003kbp.1	c.4927G>A	5190/11073	2	2			c.4927G>A						5	SNP	c.(4927-4929)GAA>AAA	24	24			skin(2)	2	Broad	transcription factor-like nuclear regulator			70813215		0.303	ENSG00000145734	1363	g.chr5:70813215G>A	regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding							139.146939	KEEP	24	27	-1	37	33	24	27	-1	139.821803	37	33	0.418803	1	0	0	0	0	1	0	0	0	--	--		0	A			BDP1_uc003kbo.2_Missense_Mutation_p.E1643K	159	GBM-19-1390-TP	p.E1643K	G	CAGAATGTATGAAAATCAAAG	NM_018429	NP_060899	70813215	A6H8Y1	BDP1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	22	5190	+	A	A		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	Missense_Mutation	1643						
BEND2	139105		GRCh37	X	18195711	18195711	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-2510-01	TCGA-28-2510-01																				ENST00000380033.4:c.1608G>A	p.Pro536=	p.P536=	ENST00000380033	NM_153346.4	536	ccG/ccA	0																																																																																																																																																																																																																																												
BEND2	139105		GRCh37	X	18238990	18238990	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000380033.4:c.-120C>T		p.*40*	ENST00000380033	NM_153346.4			0																																																																																																																																																																																																																																												
BEND3	57673	broad.mit.edu	GRCh37	6	107391831	107391831	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000429433.2:c.564C>T	p.Asn188=	p.N188=	ENST00000429433	NM_001080450.2	188	aaC/aaT	0			1			A	N	uc003prs.2	protein_coding		CCDS34507.1			564/2487									ovary(3)	3	c.(562-564)AAC>AAT				BEN domain containing 3				ENSP00000358038		4-Apr	4.12E-05					1.50E-05		0.000243	rs782123009,COSM3410524	4-Apr	.		ENST00000369042	Transcript						ENSG00000178409	g.chr6:107391831G>A	23040			LOW								--	--	1																																			0,1				p.N188N	NM_001080450	NP_001073919			0,1	BEND3_HUMAN	BEND3	HGNC	Q5T5X7	BEND3_HUMAN					5	1214	-			UPI00001D80D7	188					SNV	BEND3,synonymous_variant,p.=,ENST00000429433,NM_001080450.2;BEND3,synonymous_variant,p.=,ENST00000369042,;	uc003prs.2	c.564C>T	755/6200	2	2			c.564C>T						6	SNP	c.(562-564)AAC>AAT	25	25			ovary(3)	3	Broad	BEN domain containing 3			107391831		0.577	ENSG00000178409	1367	g.chr6:107391831G>A										116.315622	KEEP	24	21	-1	32	24	24	21	-1	116.644188	32	24	0.4375	1	0	0	0	0	0	0	1	0	--	--		0	A				8	GBM-02-2486-TP	p.N188N	G	TGTTGGGGTCGTTGTCAGTGC	NM_001080450	NP_001073919	107391831	Q5T5X7	BEND3_HUMAN	0			5	1214	-	A	A			Silent	188						
BEND4	389206		GRCh37	4	42119671	42119671	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000502486.1:c.1469C>T	p.Ala490Val	p.A490V	ENST00000502486	NM_207406.3	490	gCt/gTt	0																																																																																																																																																																																																																																												
BEND6	0	broad.mit.edu	GRCh37	6	56883316	56883316	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-2631-01	TCGA-19-2631-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370746.3:c.810C>G	p.Ser270Arg	p.S270R	ENST00000370746	NM_152731.2	270	agC/agG	0			1			G	S/R	uc010kab.2	protein_coding	YES	CCDS43476.1			810/840										0	c.(808-810)AGC>AGG			PROSITE_profiles:PS51457,SMART_domains:SM01025	BEN domain containing 6				ENSP00000359782		7-Jun									COSM2156430	7-Jun	.		ENST00000370746	Transcript						ENSG00000151917	g.chr6:56883316C>G	20871			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=BEND6_HUMAN&rb=190&re=271&var=S270R	NA	getma.org/?cm=var&var=hg19,6,56883316,C,G&fts=all	S270R	--	--	1																																		BEND6_uc003pdi.3_Missense_Mutation_p.S172R	1	1		benign(0.386)	p.S270R	NM_152731	NP_689944		deleterious_low_confidence(0)	1	BEND6_HUMAN	BEND6	HGNC	Q5SZJ8	BEND6_HUMAN			B7Z9G1_HUMAN,B7Z8N8_HUMAN		6	1396	+			UPI000020DF34	270			BEN.		SNV	BEND6,missense_variant,p.Ser270Arg,ENST00000370746,NM_152731.2;BEND6,missense_variant,p.Ser172Arg,ENST00000545789,;BEND6,3_prime_UTR_variant,,ENST00000370750,;BEND6,downstream_gene_variant,,ENST00000370745,;BEND6,downstream_gene_variant,,ENST00000484701,;	uc010kab.2	c.810C>G	1079/2379	3	3			c.810C>G						6	SNP	c.(808-810)AGC>AGG	6	6				0	Broad	BEN domain containing 6			56883316		0.313	ENSG00000151917	1370	g.chr6:56883316C>G										62.031275	KEEP	12	9	-1	16	24	12	9	-1	63.616721	16	24	0.321429	1	0	0	0	0	1	0	0	0	--	--		0	G			BEND6_uc003pdi.3_Missense_Mutation_p.S172R	167	GBM-19-2631-TP	p.S270R	C	CAAATTTAAGCAAAAATCTTA	NM_152731	NP_689944	56883316	Q5SZJ8	BEND6_HUMAN	0			6	1396	+	G	G			Missense_Mutation	270			BEN.			
BEST2	54831	broad.mit.edu	GRCh37	19	12864093	12864093	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000549706.1:c.172C>T	p.Gln58Ter	p.Q58*	ENST00000549706		58	Cag/Tag	0			1			T	Q/*	uc002mux.2	protein_coding		CCDS42506.1			172/1530									ovary(1)|pancreas(1)	2	c.(172-174)CAG>TAG			Pfam_domain:PF01062,hmmpanther:PTHR10736,hmmpanther:PTHR10736:SF1	vitelliform macular dystrophy 2-like 1				ENSP00000042931		9-Feb									COSM2151828	9-Feb	.		ENST00000042931	Transcript			membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity	ENSG00000039987	g.chr19:12864093C>T	17107			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,19,12864093,C,T&fts=all	Q58*	--	--	1																																			1				p.Q58*	NM_017682	NP_060152			1	BEST2_HUMAN	BEST2	HGNC	Q8NFU1	BEST2_HUMAN					2	172	+			UPI000007395A	58			Extracellular (Potential).		SNV	BEST2,stop_gained,p.Gln58Ter,ENST00000549706,;BEST2,stop_gained,p.Gln58Ter,ENST00000553030,;BEST2,stop_gained,p.Gln58Ter,ENST00000042931,NM_017682.2;ASNA1,downstream_gene_variant,,ENST00000591090,;ASNA1,downstream_gene_variant,,ENST00000357332,NM_004317.2;BEST2,upstream_gene_variant,,ENST00000552539,;	uc002mux.2	c.172C>T	172/1908	5	2			c.172C>T						19	SNP	c.(172-174)CAG>TAG	32	32			ovary(1)|pancreas(1)	2	Broad	vitelliform macular dystrophy 2-like 1			12864093		0.567	ENSG00000039987	1373	g.chr19:12864093C>T	membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity							124.97507	KEEP	29	29	-1	74	75	29	29	-1	133.498093	74	75	0.277487	1	0	0	0	0	0	1	0	0	--	--		0	T				68	GBM-06-0747-TP	p.Q58*	C	GACCGAAGGGCAGAAGCGCTA	NM_017682	NP_060152	12864093	Q8NFU1	BEST2_HUMAN	0			2	172	+	T	T			Nonsense_Mutation	58			Extracellular (Potential).			
BEST2	0	broad.mit.edu	GRCh37	19	12863444	12863444	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6391-01	TCGA-06-6391-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000042931.1:c.38G>A	p.Arg13His	p.R13H	ENST00000042931	NM_017682.2	13	cGc/cAc	0	A:0		1			A	R/H	uc002mux.2	protein_coding		CCDS42506.1			38/1530									ovary(1)|pancreas(1)	2	c.(37-39)CGC>CAC			Pfam_domain:PF01062,hmmpanther:PTHR10736,hmmpanther:PTHR10736:SF1	vitelliform macular dystrophy 2-like 1			A:0.0001	ENSP00000042931		9-Jan	8.26E-06					1.50E-05			rs368197840	9-Jan	.		ENST00000042931	Transcript			membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity	ENSG00000039987	g.chr19:12863444G>A	17107			MODERATE		2.11	medium	getma.org/?cm=msa&ty=f&p=BEST2_HUMAN&rb=1&re=317&var=R13H	NA	getma.org/?cm=var&var=hg19,19,12863444,G,A&fts=all	R13H	--	--	1																																						benign(0.274)	p.R13H	NM_017682	NP_060152		deleterious(0.04)		BEST2_HUMAN	BEST2	HGNC	Q8NFU1	BEST2_HUMAN					1	38	+			UPI000007395A	13			Cytoplasmic (Potential).		SNV	BEST2,missense_variant,p.Arg13His,ENST00000549706,;BEST2,missense_variant,p.Arg13His,ENST00000553030,;BEST2,missense_variant,p.Arg13His,ENST00000042931,NM_017682.2;ASNA1,downstream_gene_variant,,ENST00000591090,;ASNA1,downstream_gene_variant,,ENST00000357332,NM_004317.2;BEST2,upstream_gene_variant,,ENST00000552539,;	uc002mux.2	c.38G>A	38/1908	2	2			c.38G>A						19	SNP	c.(37-39)CGC>CAC	43	43			ovary(1)|pancreas(1)	2	Broad	vitelliform macular dystrophy 2-like 1			12863444		0.657	ENSG00000039987	1373	g.chr19:12863444G>A	membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity							51.733438	KEEP	12	13	-1	39	46	12	13	-1	57.404339	39	46	0.235955	1	0	0	0	0	1	0	0	0	--	--		0	A				107	GBM-06-6391-TP	p.R13H	G	GCGAACGCCCGCTTCGGTGGC	NM_017682	NP_060152	12863444	Q8NFU1	BEST2_HUMAN	0			1	38	+	A	A			Missense_Mutation	13			Cytoplasmic (Potential).			
BEST3	0	broad.mit.edu	GRCh37	12	70091534	70091534	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-14-1450-01	TCGA-14-1450-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330891.5:c.45delT	p.Phe15LeufsTer32	p.F15Lfs*32	ENST00000330891	NM_032735.2	15	ttT/tt	0			1			-	F/X	uc001svg.2	protein_coding	YES	CCDS8992.2			45/2007										0	c.(43-45)TTTfs			hmmpanther:PTHR10736,hmmpanther:PTHR10736:SF2,Pfam_domain:PF01062	vitelliform macular dystrophy 2-like 3 isoform				ENSP00000332413		10-Feb									COSM1363954	10-Feb	.		ENST00000330891	Transcript				chloride channel complex|plasma membrane	chloride channel activity	ENSG00000127325	g.chr12:70091534delA	17105			HIGH								--	--	1																																		BEST3_uc001svd.1_Frame_Shift_Del_p.F15fs|BEST3_uc001sve.1_Intron|BEST3_uc010stm.1_Intron|BEST3_uc001svh.2_Intron|BEST3_uc001svi.1_Intron	1	1			p.F15fs	NM_032735	NP_116124			1	BEST3_HUMAN	BEST3	HGNC	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		F8VVZ2_HUMAN		2	272	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		UPI000006E397	15			Cytoplasmic (Potential).		deletion	BEST3,frameshift_variant,p.Phe15LeufsTer32,ENST00000330891,NM_032735.2;BEST3,frameshift_variant,p.Phe15LeufsTer32,ENST00000331471,NM_001282614.1;BEST3,frameshift_variant,p.Phe15LeufsTer32,ENST00000548658,;BEST3,5_prime_UTR_variant,,ENST00000393365,;BEST3,intron_variant,,ENST00000553096,NM_001282613.1;BEST3,intron_variant,,ENST00000266661,NM_001282615.1;BEST3,intron_variant,,ENST00000476098,;BEST3,intron_variant,,ENST00000551160,;BEST3,upstream_gene_variant,,ENST00000552295,;BEST3,intron_variant,,ENST00000533674,;BEST3,intron_variant,,ENST00000547208,;	uc001svg.2	c.45delT	272/3532	5	5			c.45delT						12	DEL	c.(43-45)TTTfs	49	49				0	Broad	vitelliform macular dystrophy 2-like 3 isoform			70091534		0.353	ENSG00000127325	1374	g.chr12:70091534delA		chloride channel complex|plasma membrane	chloride channel activity																				0	1	1	0	1	0	0	0	0	0	--	--		0	-			BEST3_uc001svd.1_Frame_Shift_Del_p.F15fs|BEST3_uc001sve.1_Intron|BEST3_uc010stm.1_Intron|BEST3_uc001svh.2_Intron|BEST3_uc001svi.1_Intron	145	GBM-14-1450-TP	p.F15fs	A	TATGAAATCCAAAAAAAGTTG	NM_032735	NP_116124	70091534	Q8N1M1	BEST3_HUMAN	0	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		2	272	-	-	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Frame_Shift_Del	15			Cytoplasmic (Potential).			
BFSP1	631	broad.mit.edu	GRCh37	20	17489628	17489628	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0210-01	TCGA-06-0210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377873.3:c.641C>T	p.Thr214Met	p.T214M	ENST00000377873	NM_001195.3	214	aCg/aTg	0		A:0	1	A:0		A	T/M	uc002wpo.2	protein_coding	YES	CCDS13126.1			641/1998									central_nervous_system(1)	1	c.(640-642)ACG>ATG			hmmpanther:PTHR14069,hmmpanther:PTHR14069:SF0	filensin isoform 1		A:0.001		ENSP00000367104	A:0	8-May	3.31E-05	0.000225						0.000394	rs577981820,COSM2150720,COSM2150721	8-May	.		ENST00000377873	Transcript	1	A:0.0002		cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	ENSG00000125864	g.chr20:17489628G>A	1040			MODERATE		1.95	medium	getma.org/?cm=msa&ty=f&p=BFSP1_HUMAN&rb=203&re=402&var=T214M	NA	getma.org/?cm=var&var=hg19,20,17489628,G,A&fts=all	T214M	--	--	1																																		BFSP1_uc002wpp.2_Missense_Mutation_p.T89M|BFSP1_uc010zrn.1_Missense_Mutation_p.T75M|BFSP1_uc010zro.1_Missense_Mutation_p.T75M	0,1,1	1		benign(0.273)	p.T214M	NM_001195	NP_001186	A:0	tolerated(0.12)	0,1,1	BFSP1_HUMAN	BFSP1	HGNC	Q12934	BFSP1_HUMAN			F5H0G1_HUMAN		5	680	-			UPI00001268C7	214			Rod.|Coil 2.		SNV	BFSP1,missense_variant,p.Thr214Met,ENST00000377873,NM_001195.3;BFSP1,missense_variant,p.Thr75Met,ENST00000536626,NM_001278608.1;BFSP1,missense_variant,p.Thr75Met,ENST00000544874,NM_001278606.1;BFSP1,missense_variant,p.Thr89Met,ENST00000377868,NM_001278607.1,NM_001161705.1;BFSP1,non_coding_transcript_exon_variant,,ENST00000492424,;BFSP1,downstream_gene_variant,,ENST00000473415,;	uc002wpo.2	c.641C>T	681/2207	1	1			c.641C>T						20	SNP	c.(640-642)ACG>ATG	64	64			central_nervous_system(1)	1	Broad	filensin isoform 1			17489628		0.612	ENSG00000125864	1383	g.chr20:17489628G>A		cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens							25.239182	KEEP	6	4	-1	11	15	6	4	-1	26.527554	11	15	0.294118	1	0	0	0	0	1	0	0	0	--	--		0	A			BFSP1_uc002wpp.2_Missense_Mutation_p.T89M|BFSP1_uc010zrn.1_Missense_Mutation_p.T75M|BFSP1_uc010zro.1_Missense_Mutation_p.T75M	47	GBM-06-0210-TP	p.T214M	G	CTCCCGCTCCGTCAGGAGCTT	NM_001195	NP_001186	17489628	Q12934	BFSP1_HUMAN	0			5	680	-	A	A			Missense_Mutation	214			Rod.|Coil 2.			
GPRASP3	0	broad.mit.edu	GRCh37	X	102004542	102004543	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-32-2632-01	TCGA-32-2632-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361229.4:c.626dupA	p.Asn209LysfsTer2	p.N209Kfs*2	ENST00000361229	NM_030639.2	207	gaa/gAaa	0			1			A	E/EX	uc010nog.2	protein_coding		CCDS14502.1			619-620/1644									ovary(2)	2	c.(619-621)GAAfs			hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF18	basic helix-loop-helix domain containing, class				ENSP00000354675		3-Mar										3-Mar	.		ENST00000361229	Transcript				cytoplasm|nucleus	binding	ENSG00000198908	g.chrX:102004542_102004543insA	29353	7		HIGH								--	--	1																																		BHLHB9_uc011mrq.1_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mrr.1_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mrs.1_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mrt.1_Frame_Shift_Ins_p.E207fs|BHLHB9_uc004ejo.2_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mru.1_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mrv.1_Frame_Shift_Ins_p.E207fs					p.E207fs	NM_001142526	NP_001135998				BHLH9_HUMAN	BHLHB9	HGNC	Q6PI77	BHLH9_HUMAN					4	1190_1191	+			UPI00001C1D50	207					insertion	BHLHB9,frameshift_variant,p.Asn209LysfsTer2,ENST00000372735,;BHLHB9,frameshift_variant,p.Asn209LysfsTer2,ENST00000457056,NM_001142527.1,NM_001142526.1,NM_001142525.1,NM_001142528.1,NM_001142524.1;BHLHB9,frameshift_variant,p.Asn209LysfsTer2,ENST00000447531,NM_001142529.1;BHLHB9,frameshift_variant,p.Asn209LysfsTer2,ENST00000361229,NM_030639.2;BHLHB9,frameshift_variant,p.Asn209LysfsTer2,ENST00000448867,NM_001142530.1;BHLHB9,downstream_gene_variant,,ENST00000483294,;BHLHB9,downstream_gene_variant,,ENST00000486988,;	uc010nog.2	c.619_620insA	1147-1148/3974	5	5			c.619_620insA						23	INS	c.(619-621)GAAfs	47	47			ovary(2)	2	Broad	basic helix-loop-helix domain containing, class			102004543		0.45	ENSG00000198908	1387	g.chrX:102004542_102004543insA		cytoplasm|nucleus	binding																				0.69	1	0	0	1	1	0	0	0	0	--	--		0	A			BHLHB9_uc011mrq.1_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mrr.1_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mrs.1_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mrt.1_Frame_Shift_Ins_p.E207fs|BHLHB9_uc004ejo.2_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mru.1_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mrv.1_Frame_Shift_Ins_p.E207fs	240	GBM-32-2632-TP	p.E207fs	-	TGAAATTAATGAAAAAAATAGG	NM_001142526	NP_001135998	102004542	Q6PI77	BHLH9_HUMAN	0			4	1190_1191	+	A	A			Frame_Shift_Ins	207						
GPRASP3	0	broad.mit.edu	GRCh37	X	102004877	102004877	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361229.4:c.954C>T	p.Cys318=	p.C318=	ENST00000361229	NM_030639.2	318	tgC/tgT	0			1			T	C	uc010nog.2	protein_coding		CCDS14502.1			954/1644									ovary(2)	2	c.(952-954)TGC>TGT			hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF18,Pfam_domain:PF04826,Superfamily_domains:SSF48371	basic helix-loop-helix domain containing, class				ENSP00000354675		3-Mar									COSM3405786	3-Mar	.		ENST00000361229	Transcript				cytoplasm|nucleus	binding	ENSG00000198908	g.chrX:102004877C>T	29353			LOW								--	--	1																																		BHLHB9_uc011mrq.1_Silent_p.C318C|BHLHB9_uc011mrr.1_Silent_p.C318C|BHLHB9_uc011mrs.1_Silent_p.C318C|BHLHB9_uc011mrt.1_Silent_p.C318C|BHLHB9_uc004ejo.2_Silent_p.C318C|BHLHB9_uc011mru.1_Silent_p.C318C|BHLHB9_uc011mrv.1_Silent_p.C318C	1				p.C318C	NM_001142526	NP_001135998			1	BHLH9_HUMAN	BHLHB9	HGNC	Q6PI77	BHLH9_HUMAN					4	1525	+			UPI00001C1D50	318					SNV	BHLHB9,synonymous_variant,p.=,ENST00000372735,;BHLHB9,synonymous_variant,p.=,ENST00000457056,NM_001142527.1,NM_001142526.1,NM_001142525.1,NM_001142528.1,NM_001142524.1;BHLHB9,synonymous_variant,p.=,ENST00000447531,NM_001142529.1;BHLHB9,synonymous_variant,p.=,ENST00000361229,NM_030639.2;BHLHB9,synonymous_variant,p.=,ENST00000448867,NM_001142530.1;BHLHB9,downstream_gene_variant,,ENST00000483294,;BHLHB9,downstream_gene_variant,,ENST00000486988,;	uc010nog.2	c.954C>T	1482/3974	2	2			c.954C>T						23	SNP	c.(952-954)TGC>TGT	30	30			ovary(2)	2	Broad	basic helix-loop-helix domain containing, class			102004877		0.398	ENSG00000198908	1387	g.chrX:102004877C>T		cytoplasm|nucleus	binding							494.497673	KEEP	68	86	-1	64	66	68	86	-1	494.955248	64	66	0.543796	1	0	0	0	0	0	0	1	0	--	--		0	T			BHLHB9_uc011mrq.1_Silent_p.C318C|BHLHB9_uc011mrr.1_Silent_p.C318C|BHLHB9_uc011mrs.1_Silent_p.C318C|BHLHB9_uc011mrt.1_Silent_p.C318C|BHLHB9_uc004ejo.2_Silent_p.C318C|BHLHB9_uc011mru.1_Silent_p.C318C|BHLHB9_uc011mrv.1_Silent_p.C318C	269	GBM-76-4929-TP	p.C318C	C	AAATGGAATGCTATATGGATT	NM_001142526	NP_001135998	102004877	Q6PI77	BHLH9_HUMAN	0			4	1525	+	T	T			Silent	318						
BHLHB9	80823		GRCh37	X	102005060	102005060	+	synonymous_variant	Silent	SNP	T	T	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000372735.1:c.1137T>A	p.Pro379=	p.P379=	ENST00000372735		379	ccT/ccA	0																																																																																																																																																																																																																																												
BHLHE22	0	broad.mit.edu	GRCh37	8	65493617	65493618	+	inframe_insertion	In_Frame_Ins	INS	-	-	GGC			TCGA-19-5958-01	TCGA-19-5958-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321870.1:c.288_290dupCGG	p.Gly97dup	p.G97dup	ENST00000321870	NM_152414.4	90	-/GGC	0			1			GGC	-/G	uc003xvi.2	protein_coding	YES	CCDS6179.1			270-271/1146										0	c.(268-273)insGGC			Low_complexity_(Seg):seg,hmmpanther:PTHR19290,hmmpanther:PTHR19290:SF52	basic helix-loop-helix domain containing, class				ENSP00000318799		1-Jan									rs544639534	1-Jan	.		ENST00000321870	Transcript		GGC:0.0769	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		ENSG00000180828	g.chr8:65493617_65493618insGGC	11963	20		MODERATE								--	--	1																																		LOC401463_uc003xvh.2_Intron		1			p.97_98insG	NM_152414	NP_689627				BHE22_HUMAN	BHLHE22	HGNC	Q8NFJ8	BHE22_HUMAN					1	804_805	+			UPI0000070A3C	97_98			Gly-rich.		insertion	BHLHE22,inframe_insertion,p.Gly97dup,ENST00000321870,NM_152414.4;RP11-21C4.1,intron_variant,,ENST00000517909,;RP11-21C4.1,upstream_gene_variant,,ENST00000520834,;	uc003xvi.2	c.270_271insGGC	804-805/3368	5	5			c.270_271insGGC						8	INS	c.(268-273)insGGC	25	25				0	Broad	basic helix-loop-helix domain containing, class			65493618		0.584	ENSG00000180828	1388	g.chr8:65493617_65493618insGGC	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		Colon(113;104 1586 2865 9855 18065)			Colon(113;104 1586 2865 9855 18065)																0.33	1	0	0	1	1	0	0	0	0	--	--		0	GGC			LOC401463_uc003xvh.2_Intron	176	GBM-19-5958-TP	p.97_98insG	-	gcgcgggaagtggcggcggcgg	NM_152414	NP_689627	65493617	Q8NFJ8	BHE22_HUMAN	0			1	804_805	+	GGC	GGC			In_Frame_Ins	97_98			Gly-rich.			
BICD1	636	broad.mit.edu	GRCh37	12	32491868	32491868	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0174-01	TCGA-06-0174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281474.5:c.2719G>C	p.Gly907Arg	p.G907R	ENST00000281474	NM_001714.2	907	Ggg/Cgg	0			1			C	G/R	uc001rku.2	protein_coding	YES	CCDS8726.1			2719/2928									large_intestine(1)|central_nervous_system(1)	2	c.(2719-2721)GGG>CGG				bicaudal D homolog 1 isoform 1				ENSP00000281474		10-Aug									COSM3398672	10-Aug	.		ENST00000281474	Transcript			anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	ENSG00000151746	g.chr12:32491868G>C	1049			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=BICD1_HUMAN&rb=800&re=975&var=G907R	NA	getma.org/?cm=var&var=hg19,12,32491868,G,C&fts=all	G907R	--	--	1																																		BICD1_uc001rkv.2_Intron|BICD1_uc010skd.1_RNA	1	1		possibly_damaging(0.578)	p.G907R	NM_001714	NP_001705		deleterious_low_confidence(0.03)	1	BICD1_HUMAN	BICD1	HGNC	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)				8	2800	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		UPI00001AEA67	907					SNV	BICD1,missense_variant,p.Gly907Arg,ENST00000281474,NM_001714.2;BICD1,intron_variant,,ENST00000548411,NM_001003398.1;BICD1,3_prime_UTR_variant,,ENST00000395758,;BICD1,non_coding_transcript_exon_variant,,ENST00000552226,;BICD1,downstream_gene_variant,,ENST00000552160,;	uc001rku.2	c.2719G>C	2822/3281	4	4			c.2719G>C						12	SNP	c.(2719-2721)GGG>CGG	36	36			large_intestine(1)|central_nervous_system(1)	2	Broad	bicaudal D homolog 1 isoform 1			32491868		0.463	ENSG00000151746	1395	g.chr12:32491868G>C	anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton							252.813685	KEEP	45	48	-1	72	51	45	48	-1	253.576615	72	51	0.432292	1	0	0	0	0	1	0	0	0	--	--		0	C			BICD1_uc001rkv.2_Intron|BICD1_uc010skd.1_RNA	37	GBM-06-0174-TP	p.G907R	G	ATTCATCCAAGGGCACCGGCT	NM_001714	NP_001705	32491868	Q96G01	BICD1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		8	2800	+	C	C	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		Missense_Mutation	907						
BICD2	0	broad.mit.edu	GRCh37	9	95481024	95481024	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5204-01	TCGA-28-5204-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375512.3:c.1903C>T	p.Arg635Cys	p.R635C	ENST00000375512	NM_015250.3	635	Cgt/Tgt	0			1			A	R/C	uc004aso.1	protein_coding		CCDS6700.1			1903/2475									skin(1)	1	c.(1903-1905)CGT>TGT			Pfam_domain:PF09730,hmmpanther:PTHR31233,hmmpanther:PTHR31233:SF7	bicaudal D homolog 2 isoform 2				ENSP00000364662		8-May	8.24E-06					1.50E-05			rs750918663,COSM3413818	8-May	.		ENST00000375512	Transcript	1		microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	ENSG00000185963	g.chr9:95481024G>A	17208			MODERATE		2.52	medium	getma.org/?cm=msa&ty=f&p=BICD2_HUMAN&rb=83&re=801&var=R635C	NA	getma.org/?cm=var&var=hg19,9,95481024,G,A&fts=all	R635C	--	--	1																																		BICD2_uc004asp.1_Missense_Mutation_p.R635C	0,1			probably_damaging(1)	p.R635C	NM_015250	NP_056065		deleterious(0)	0,1	BICD2_HUMAN	BICD2	HGNC	Q8TD16	BICD2_HUMAN					5	1960	-			UPI00000710B6	635					SNV	BICD2,missense_variant,p.Arg635Cys,ENST00000356884,NM_001003800.1;BICD2,missense_variant,p.Arg635Cys,ENST00000375512,NM_015250.3;	uc004aso.1	c.1903C>T	1971/4636	1	1			c.1903C>T						9	SNP	c.(1903-1905)CGT>TGT	59	59			skin(1)	1	Broad	bicaudal D homolog 2 isoform 2			95481024		0.652	ENSG00000185963	1396	g.chr9:95481024G>A	microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding							-30.243167	KEEP	2	2	-1	70	91	2	2	-1	8.058226	70	91	0.025974	1	0	0	0	0	1	0	0	0	--	--		0	A			BICD2_uc004asp.1_Missense_Mutation_p.R635C	215	GBM-28-5204-TP	p.R635C	G	ATCTGGTCACGGATGATAGCG	NM_015250	NP_056065	95481024	Q8TD16	BICD2_HUMAN	0			5	1960	-	A	A			Missense_Mutation	635						
BICD2	0	broad.mit.edu	GRCh37	9	95480999	95480999	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-32-2495-01	TCGA-32-2495-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375512.3:c.1928C>A	p.Ala643Glu	p.A643E	ENST00000375512	NM_015250.3	643	gCa/gAa	0			1			T	A/E	uc004aso.1	protein_coding		CCDS6700.1			1928/2475									skin(1)	1	c.(1927-1929)GCA>GAA			Pfam_domain:PF09730,hmmpanther:PTHR31233,hmmpanther:PTHR31233:SF7	bicaudal D homolog 2 isoform 2				ENSP00000364662		8-May									COSM3748419	8-May	.		ENST00000375512	Transcript	1		microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	ENSG00000185963	g.chr9:95480999G>T	17208			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=BICD2_HUMAN&rb=83&re=801&var=A643E	NA	getma.org/?cm=var&var=hg19,9,95480999,G,T&fts=all	A643E	--	--	1																																		BICD2_uc004asp.1_Missense_Mutation_p.A643E	1			benign(0.297)	p.A643E	NM_015250	NP_056065		tolerated(0.39)	1	BICD2_HUMAN	BICD2	HGNC	Q8TD16	BICD2_HUMAN					5	1985	-			UPI00000710B6	643					SNV	BICD2,missense_variant,p.Ala643Glu,ENST00000356884,NM_001003800.1;BICD2,missense_variant,p.Ala643Glu,ENST00000375512,NM_015250.3;	uc004aso.1	c.1928C>A	1996/4636	1	1			c.1928C>A						9	SNP	c.(1927-1929)GCA>GAA	2	2			skin(1)	1	Broad	bicaudal D homolog 2 isoform 2			95480999		0.622	ENSG00000185963	1396	g.chr9:95480999G>T	microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding							-93.449003	KEEP	5	14	0.263157895	223	244	5	14	0.263157895	8.420174	223	244	0.034884	1	0	0	0	0	1	0	0	0	--	--		0	T			BICD2_uc004asp.1_Missense_Mutation_p.A643E	237	GBM-32-2495-TP	p.A643E	G	GTCCACGGCTGCCTGCAGGTG	NM_015250	NP_056065	95480999	Q8TD16	BICD2_HUMAN	0			5	1985	-	T	T			Missense_Mutation	643						
BICD2	23299		GRCh37	9	95481762	95481762	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000356884.6:c.1165C>T	p.Arg389Cys	p.R389C	ENST00000356884	NM_001003800.1	389	Cgc/Tgc	0																																																																																																																																																																																																																																												
BIN2	51411	broad.mit.edu	GRCh37	12	51685543	51685543	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-02-2483-01	TCGA-02-2483-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267012.4:c.1347G>A	p.Arg449=	p.R449=	ENST00000267012	NM_016293.2	449	agG/agA	0			1			T	R	uc001ryg.2	protein_coding	YES	CCDS8811.1			1347/1698									ovary(1)	1	c.(1345-1347)AGG>AGA			hmmpanther:PTHR10321,hmmpanther:PTHR10321:SF11,Low_complexity_(Seg):seg	bridging integrator 2				ENSP00000267012		13-Oct									COSM2149150	13-Oct	.		ENST00000267012	Transcript				cytoplasm	protein binding	ENSG00000110934	g.chr12:51685543C>T	1053			LOW								--	--	1																																		BIN2_uc009zlz.2_Silent_p.R417R|BIN2_uc001ryh.2_Silent_p.R325R|BIN2_uc010sng.1_Silent_p.R423R	1	1			p.R449R	NM_016293	NP_057377			1	BIN2_HUMAN	BIN2	HGNC	Q9UBW5	BIN2_HUMAN					10	1399	-			UPI000013D71F	449			Pro-rich.		SNV	BIN2,synonymous_variant,p.=,ENST00000267012,NM_016293.2;BIN2,synonymous_variant,p.=,ENST00000452142,;BIN2,synonymous_variant,p.=,ENST00000604560,;BIN2,synonymous_variant,p.=,ENST00000544402,;BIN2,non_coding_transcript_exon_variant,,ENST00000605039,;BIN2,downstream_gene_variant,,ENST00000603177,;BIN2,downstream_gene_variant,,ENST00000605819,;	uc001ryg.2	c.1347G>A	1409/2221	2	2			c.1347G>A						12	SNP	c.(1345-1347)AGG>AGA	17	17			ovary(1)	1	Broad	bridging integrator 2			51685543		0.612	ENSG00000110934	1400	g.chr12:51685543C>T		cytoplasm	protein binding							113.302957	KEEP	20	23	-1	50	43	20	23	-1	116.892101	50	43	0.316667	1	0	0	0	0	0	0	1	0	--	--		0	T			BIN2_uc009zlz.2_Silent_p.R417R|BIN2_uc001ryh.2_Silent_p.R325R|BIN2_uc010sng.1_Silent_p.R423R	6	GBM-02-2483-TP	p.R449R	C	CCAAGGAGGCCCTAGGGCTGG	NM_016293	NP_057377	51685543	Q9UBW5	BIN2_HUMAN	0			10	1399	-	T	T			Silent	449			Pro-rich.			
BIN2	0	broad.mit.edu	GRCh37	12	51696870	51696870	+	splice_donor_variant	Splice_Site	SNP	C	C	T			TCGA-16-0846-01	TCGA-16-0846-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267012.4:c.217+1G>A		p.X73_splice	ENST00000267012	NM_016293.2			0			1			T		uc001ryg.2	protein_coding	YES	CCDS8811.1			217/1698									ovary(1)	1	c.e3+1				bridging integrator 2				ENSP00000267012											COSM3398797		.		ENST00000267012	Transcript				cytoplasm	protein binding	ENSG00000110934	g.chr12:51696870C>T	1053			HIGH	12-Mar							--	--	1																																		BIN2_uc009zlz.2_Splice_Site_p.V73_splice|BIN2_uc001ryh.2_Splice_Site|BIN2_uc010sng.1_Splice_Site_p.V47_splice	1	1			p.V73_splice	NM_016293	NP_057377			1	BIN2_HUMAN	BIN2	HGNC	Q9UBW5	BIN2_HUMAN					3	269	-			UPI000013D71F						SNV	BIN2,splice_donor_variant,,ENST00000267012,NM_016293.2;BIN2,splice_donor_variant,,ENST00000452142,;BIN2,splice_donor_variant,,ENST00000604560,;BIN2,splice_donor_variant,,ENST00000544402,;BIN2,splice_donor_variant,,ENST00000605039,;BIN2,splice_donor_variant,,ENST00000605423,;	uc001ryg.2	c.217_splice	-/2221	5	2			c.217_splice						12	SNP	c.e3+1	28	28			ovary(1)	1	Broad	bridging integrator 2			51696870		0.433	ENSG00000110934	1400	g.chr12:51696870C>T		cytoplasm	protein binding							159.246465	KEEP	40	27	-1	77	55	40	27	-1	163.131806	77	55	0.337349	1	0	0	0	0	0	0	0	1	--	--		0	T			BIN2_uc009zlz.2_Splice_Site_p.V73_splice|BIN2_uc001ryh.2_Splice_Site|BIN2_uc010sng.1_Splice_Site_p.V47_splice	155	GBM-16-0846-TP	p.V73_splice	C	GCATTGCCCACCTTTGACTGC	NM_016293	NP_057377	51696870	Q9UBW5	BIN2_HUMAN	0			3	269	-	T	T			Splice_Site							
BIRC3	0	broad.mit.edu	GRCh37	11	102195409	102195409	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-41-3393-01	TCGA-41-3393-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263464.3:c.169T>C	p.Tyr57His	p.Y57H	ENST00000263464	NM_001165.4	57	Tac/Cac	0			1			C	Y/H	uc001pgx.2	protein_coding	YES	CCDS8315.1			169/1815	T		MALT1		MALT				ovary(3)|skin(1)	4	c.(169-171)TAC>CAC			Gene3D:1.10.1170.10,Pfam_domain:PF00653,PROSITE_patterns:PS01282,PROSITE_profiles:PS50143,hmmpanther:PTHR10044,SMART_domains:SM00238,Superfamily_domains:SSF57924	baculoviral IAP repeat-containing protein 3				ENSP00000263464		9-Feb									COSM3397353	9-Feb	.		ENST00000263464	Transcript	1		anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000023445	g.chr11:102195409T>C	591			MODERATE		2.425	medium	getma.org/?cm=msa&ty=f&p=BIRC3_HUMAN&rb=32&re=97&var=Y57H	getma.org/pdb.php?prot=BIRC3_HUMAN&from=32&to=97&var=Y57H	getma.org/?cm=var&var=hg19,11,102195409,T,C&fts=all	Y57H	--	--	1																																			1	1		probably_damaging(1)	p.Y57H	NM_182962	NP_892007		deleterious(0)	1	BIRC3_HUMAN	BIRC3	HGNC	Q13489	BIRC3_HUMAN	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)			3	391	+	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	UPI0000001C60	57			BIR 1.		SNV	BIRC3,missense_variant,p.Tyr57His,ENST00000263464,NM_001165.4;BIRC3,missense_variant,p.Tyr57His,ENST00000532808,NM_182962.2;BIRC3,upstream_gene_variant,,ENST00000527309,;BIRC3,downstream_gene_variant,,ENST00000526421,;BIRC3,downstream_gene_variant,,ENST00000528940,;	uc001pgx.2	c.169T>C	2919/5197	3	3			c.169T>C	T		MALT1		MALT	11	SNP	c.(169-171)TAC>CAC	60	60			ovary(3)|skin(1)	4	Broad	baculoviral IAP repeat-containing protein 3			102195409		0.438	ENSG00000023445	1403	g.chr11:102195409T>C	anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			113			113	239.621135	KEEP	43	36	-1	89	89	43	36	-1	247.899517	89	89	0.302521	1	0	0	0	0	1	0	0	0	--	--		0	C				255	GBM-41-3393-TP	p.Y57H	T	TGGTTTCTATTACACTGGTGT	NM_182962	NP_892007	102195409	Q13489	BIRC3_HUMAN	0	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)	3	391	+	C	C	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Missense_Mutation	57			BIR 1.			
BIRC6	0	broad.mit.edu	GRCh37	2	32774411	32774411	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-0861-01	TCGA-16-0861-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000421745.2:c.13007G>A	p.Ser4336Asn	p.S4336N	ENST00000421745	NM_016252.3	4336	aGt/aAt	0			1			A	S/N	uc010ezu.2	protein_coding	YES	CCDS33175.2			13007/14574									ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	c.(13006-13008)AGT>AAT			hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF93	baculoviral IAP repeat-containing 6				ENSP00000393596		65/74									COSM3407835,COSM3407834	65/74	.		ENST00000421745	Transcript			anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	ENSG00000115760	g.chr2:32774411G>A	13516			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=BIRC6_HUMAN&rb=4219&re=4418&var=S4336N	NA	getma.org/?cm=var&var=hg19,2,32774411,G,A&fts=all	S4336N	--	--	1																																			1,1	1		benign(0.008)	p.S4336N	NM_016252	NP_057336			1,1	BIRC6_HUMAN	BIRC6	HGNC	Q9NR09	BIRC6_HUMAN					65	13141	+	Acute lymphoblastic leukemia(172;0.155)		UPI0001611442	4336					SNV	BIRC6,missense_variant,p.Ser4336Asn,ENST00000421745,NM_016252.3;BIRC6,non_coding_transcript_exon_variant,,ENST00000471232,;	uc010ezu.2	c.13007G>A	13141/15703	2	2			c.13007G>A						2	SNP	c.(13006-13008)AGT>AAT	44	44			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Broad	baculoviral IAP repeat-containing 6			32774411		0.398	ENSG00000115760	1405	g.chr2:32774411G>A	anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	Pancreas(94;175 1509 16028 18060 45422)		1555	Pancreas(94;175 1509 16028 18060 45422)		1555	108.237325	KEEP	22	17	-1	37	40	22	17	-1	110.603809	37	40	0.342593	1	0	0	0	0	1	0	0	0	--	--		0	A				156	GBM-16-0861-TP	p.S4336N	G	CCCGTCAGTAGTGCGGTAAAT	NM_016252	NP_057336	32774411	Q9NR09	BIRC6_HUMAN	0			65	13141	+	A	A	Acute lymphoblastic leukemia(172;0.155)		Missense_Mutation	4336						
BIRC6	0	broad.mit.edu	GRCh37	2	32710744	32710744	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000421745.2:c.7731G>A	p.Gln2577=	p.Q2577=	ENST00000421745	NM_016252.3	2577	caG/caA	0			1			A	Q	uc010ezu.2	protein_coding	YES	CCDS33175.2			7731/14574									ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	c.(7729-7731)CAG>CAA			hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF93	baculoviral IAP repeat-containing 6				ENSP00000393596		40/74									COSM3407831,COSM3407830	40/74	.		ENST00000421745	Transcript			anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	ENSG00000115760	g.chr2:32710744G>A	13516			LOW								--	--	1																																			1,1	1			p.Q2577Q	NM_016252	NP_057336			1,1	BIRC6_HUMAN	BIRC6	HGNC	Q9NR09	BIRC6_HUMAN					40	7865	+	Acute lymphoblastic leukemia(172;0.155)		UPI0001611442	2577					SNV	BIRC6,synonymous_variant,p.=,ENST00000421745,NM_016252.3;	uc010ezu.2	c.7731G>A	7865/15703	1	1			c.7731G>A						2	SNP	c.(7729-7731)CAG>CAA	64	64			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Broad	baculoviral IAP repeat-containing 6			32710744		0.373	ENSG00000115760	1405	g.chr2:32710744G>A	anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	Pancreas(94;175 1509 16028 18060 45422)		1555	Pancreas(94;175 1509 16028 18060 45422)		1555	-7.835608	KEEP	0	3	-1	39	32	0	3	-1	6.733687	39	32	0.045455	1	0	0	0	0	0	0	1	0	--	--		0	A				160	GBM-19-1790-TP	p.Q2577Q	G	GACTTGAACAGCAAGCAGAAC	NM_016252	NP_057336	32710744	Q9NR09	BIRC6_HUMAN	0			40	7865	+	A	A	Acute lymphoblastic leukemia(172;0.155)		Silent	2577						
BIRC6	57448		GRCh37	2	32740406	32740406	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000421745.2:c.10918G>A	p.Ala3640Thr	p.A3640T	ENST00000421745	NM_016252.3	3640	Gct/Act	0																																																																																																																																																																																																																																												
BIRC6	57448		GRCh37	2	32727897	32727897	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000421745.2:c.9243A>T	p.Leu3081Phe	p.L3081F	ENST00000421745	NM_016252.3	3081	ttA/ttT	0																																																																																																																																																																																																																																												
BIRC8	0	broad.mit.edu	GRCh37	19	53792992	53792993	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-14-2554-01	TCGA-14-2554-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000426466.1:c.635_636insC	p.Gln212HisfsTer4	p.Q212Hfs*4	ENST00000426466	NM_033341.4	212	caa/caCa	0			1			G	Q/HX	uc002qbk.2	protein_coding	YES	CCDS12863.1			635-636/711									lung(1)	1	c.(634-636)CAAfs			PROSITE_profiles:PS50089,hmmpanther:PTHR10044:SF10,hmmpanther:PTHR10044,Pfam_domain:PF13920,SMART_domains:SM00184	baculoviral IAP repeat-containing 8				ENSP00000412957		1-Jan										1-Jan	.		ENST00000426466	Transcript			apoptosis		zinc ion binding	ENSG00000163098	g.chr19:53792992_53792993insG	14878			HIGH								--	--	1																																				1			p.Q212fs	NM_033341	NP_203127				BIRC8_HUMAN	BIRC8	HGNC	Q96P09	BIRC8_HUMAN		GBM - Glioblastoma multiforme(134;0.00304)			1	1883_1884	-			UPI000003966A	212			RING-type.		insertion	BIRC8,frameshift_variant,p.Gln212HisfsTer4,ENST00000426466,NM_033341.4;FAM90A27P,downstream_gene_variant,,ENST00000338885,;FAM90A27P,downstream_gene_variant,,ENST00000593323,;	uc002qbk.2	c.635_636insC	1883-1884/2020	5	5			c.635_636insC						19	INS	c.(634-636)CAAfs	55	55			lung(1)	1	Broad	baculoviral IAP repeat-containing 8			53792993		0.426	ENSG00000163098	1407	g.chr19:53792992_53792993insG	apoptosis		zinc ion binding																				0.26	1	0	0	1	1	0	0	0	0	--	--		0	G				150	GBM-14-2554-TP	p.Q212fs	-	CTTCAGCACATTGTTTACAAGT	NM_033341	NP_203127	53792992	Q96P09	BIRC8_HUMAN	0		GBM - Glioblastoma multiforme(134;0.00304)	1	1883_1884	-	G	G			Frame_Shift_Ins	212			RING-type.			
BIRC8	0	broad.mit.edu	GRCh37	19	53793037	53793037	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000426466.1:c.591C>T	p.Ile197=	p.I197=	ENST00000426466	NM_033341.4	197	atC/atT	0			1			A	I	uc002qbk.2	protein_coding	YES	CCDS12863.1			591/711									lung(1)	1	c.(589-591)ATC>ATT			PROSITE_profiles:PS50089,hmmpanther:PTHR10044:SF10,hmmpanther:PTHR10044,Gene3D:1.10.1170.10,Pfam_domain:PF13920,SMART_domains:SM00184,Superfamily_domains:SSF57924	baculoviral IAP repeat-containing 8				ENSP00000412957		1-Jan									COSM3404541	1-Jan	.		ENST00000426466	Transcript			apoptosis		zinc ion binding	ENSG00000163098	g.chr19:53793037G>A	14878			LOW								--	--	1																																			1	1			p.I197I	NM_033341	NP_203127			1	BIRC8_HUMAN	BIRC8	HGNC	Q96P09	BIRC8_HUMAN		GBM - Glioblastoma multiforme(134;0.00304)			1	1839	-			UPI000003966A	197			RING-type.		SNV	BIRC8,synonymous_variant,p.=,ENST00000426466,NM_033341.4;FAM90A27P,downstream_gene_variant,,ENST00000338885,;FAM90A27P,downstream_gene_variant,,ENST00000593323,;	uc002qbk.2	c.591C>T	1839/2020	2	2			c.591C>T						19	SNP	c.(589-591)ATC>ATT	24	24			lung(1)	1	Broad	baculoviral IAP repeat-containing 8			53793037		0.443	ENSG00000163098	1407	g.chr19:53793037G>A	apoptosis		zinc ion binding							-12.047524	KEEP	2	1	-1	41	40	2	1	-1	7.046639	41	40	0.036585	1	0	0	0	0	0	0	1	0	--	--		0	A				235	GBM-32-2491-TP	p.I197I	G	AAACAACAGCGATATGTCTGT	NM_033341	NP_203127	53793037	Q96P09	BIRC8_HUMAN	0		GBM - Glioblastoma multiforme(134;0.00304)	1	1839	-	A	A			Silent	197			RING-type.			
BIVM	54841	broad.mit.edu	GRCh37	13	103491945	103491945	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0173-01	TCGA-06-0173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257336.1:c.1242C>T	p.Ile414=	p.I414=	ENST00000257336	NM_017693.3	414	atC/atT	0			1			T	I	uc001vpu.1	protein_coding	YES				1158/4157	Mis|N|F			skin basal cell|skin squamous cell|melanoma					ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	c.(1240-1242)ATC>ATT		Direct_reversal_of_damage|NER	hmmpanther:PTHR16171	XPG-complementing protein				ENSP00000473384		21-Sep									COSM2150380,COSM3399225	21-Sep	.	Xeroderma_Pigmentosum	ENST00000602836	Transcript			negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding	ENSG00000270181	g.chr13:103491945C>T	43690			LOW								--	--	1																																		BIVM_uc001vps.2_Silent_p.I414I|BIVM_uc010agc.2_Silent_p.I192I|BIVM_uc001vpv.2_Silent_p.I185I	1,1				p.I414I	NM_000123	NP_000114			1,1		BIVM-ERCC5	HGNC	P28715	ERCC5_HUMAN					9	1364	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		UPI0002B83330	Error:Variant_position_missing_in_P28715_after_alignment					SNV	BIVM-ERCC5,synonymous_variant,p.=,ENST00000602836,NM_001204425.1;BIVM,synonymous_variant,p.=,ENST00000257336,NM_017693.3;BIVM,synonymous_variant,p.=,ENST00000448849,NM_001159596.1;BIVM,3_prime_UTR_variant,,ENST00000419638,;BIVM,non_coding_transcript_exon_variant,,ENST00000490317,;	uc001vpu.1	c.1242C>T	1156/4155	2	2			c.1242C>T	Mis|N|F			skin basal cell|skin squamous cell|melanoma		13	SNP	c.(1240-1242)ATC>ATT	31	31			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	Broad	XPG-complementing protein	Direct_reversal_of_damage|NER		103491945	Xeroderma_Pigmentosum	0.398	ENSG00000270181	5131	g.chr13:103491945C>T	negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			463			463	204.929123	KEEP	38	51	-1	62	63	38	51	-1	206.90011	62	63	0.38764	1	0	0	0	0	0	0	1	0	--	--		0	T			BIVM_uc001vps.2_Silent_p.I414I|BIVM_uc010agc.2_Silent_p.I192I|BIVM_uc001vpv.2_Silent_p.I185I	36	GBM-06-0173-TP	p.I414I	C	TGCATTGCATCATAGCATTCC	NM_000123	NP_000114	103491945	P28715	ERCC5_HUMAN	0			9	1364	+	T	T	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		Silent	Error:Variant_position_missing_in_P28715_after_alignment						
BIVM	54841	broad.mit.edu	GRCh37	13	103474461	103474462	+	stop_gained,frameshift_variant	Nonsense_Mutation	INS	-	-	A			TCGA-06-0749-01	TCGA-06-0749-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257336.1:c.854dup	p.Tyr285Ter	p.Y285*	ENST00000257336	NM_017693.3	285	tat/tAat	0			1			A	Y/*	uc001vpu.1	protein_coding	YES				769-770/4157	Mis|N|F			skin basal cell|skin squamous cell|melanoma					ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	c.(853-855)TATfs		Direct_reversal_of_damage|NER	hmmpanther:PTHR16171	XPG-complementing protein				ENSP00000473384		21-May										21-May	.	Xeroderma_Pigmentosum	ENST00000602836	Transcript			negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding	ENSG00000270181	g.chr13:103474461_103474462insA	43690	1		HIGH								--	--	1																																		BIVM_uc001vps.2_Frame_Shift_Ins_p.Y285fs|BIVM_uc010agc.2_Frame_Shift_Ins_p.Y56fs|BIVM_uc001vpv.2_Frame_Shift_Ins_p.Y56fs					p.Y285fs	NM_000123	NP_000114					BIVM-ERCC5	HGNC	P28715	ERCC5_HUMAN					5	975_976	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		UPI0002B83330	Error:Variant_position_missing_in_P28715_after_alignment					insertion	BIVM-ERCC5,stop_gained,p.Tyr257Ter,ENST00000602836,NM_001204425.1;BIVM,stop_gained,p.Tyr285Ter,ENST00000257336,NM_017693.3;BIVM,stop_gained,p.Tyr56Ter,ENST00000448849,NM_001159596.1;BIVM,stop_gained,p.Tyr285Ter,ENST00000419638,;RNY5P8,downstream_gene_variant,,ENST00000410369,;BIVM,non_coding_transcript_exon_variant,,ENST00000490317,;	uc001vpu.1	c.853_854insA	767-768/4155	5	5			c.853_854insA	Mis|N|F			skin basal cell|skin squamous cell|melanoma		13	INS	c.(853-855)TATfs	17	17			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	Broad	XPG-complementing protein	Direct_reversal_of_damage|NER		103474462	Xeroderma_Pigmentosum	0.297	ENSG00000270181	5131	g.chr13:103474461_103474462insA	negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			463			463														0.29	1	0	0	1	1	0	0	0	0	--	--		0	A			BIVM_uc001vps.2_Frame_Shift_Ins_p.Y285fs|BIVM_uc010agc.2_Frame_Shift_Ins_p.Y56fs|BIVM_uc001vpv.2_Frame_Shift_Ins_p.Y56fs	69	GBM-06-0749-TP	p.Y285fs	-	AGGATGCTCTTATGTTCTATAT	NM_000123	NP_000114	103474461	P28715	ERCC5_HUMAN	0			5	975_976	+	A	A	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		Frame_Shift_Ins	Error:Variant_position_missing_in_P28715_after_alignment						
BLK	0	broad.mit.edu	GRCh37	8	11400849	11400849	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs142352008	byFrequency	TCGA-26-6174-01	TCGA-26-6174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259089.4:c.116C>T	p.Pro39Leu	p.P39L	ENST00000259089	NM_001715.2	39	cCg/cTg	0	T:0.0011	T:0	1	T:0.0014		T	P/L	uc003wty.2	protein_coding	YES	CCDS5982.1			116/1518									large_intestine(1)|stomach(1)|ovary(1)	3	c.(115-117)CCG>CTG			hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF39	B lymphoid tyrosine kinase		T:0	T:0.0035	ENSP00000259089	T:0.003	13-Feb	0.00227	0.0006	0.00289		0.00122	0.00333	0.00112	0.000548	rs142352008,COSM1246131	13-Feb	common_variant		ENST00000259089	Transcript	1	T:0.0008	intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	ENSG00000136573	g.chr8:11400849C>T	1057			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=BLK_HUMAN&rb=1&re=63&var=P39L	NA	getma.org/?cm=var&var=hg19,8,11400849,C,T&fts=all	P39L	--	--	1																																		BLK_uc003wtz.2_Intron	0,1	1		possibly_damaging(0.552)	p.P39L	NM_001715	NP_001706	T:0	deleterious(0.05)	0,1	BLK_HUMAN	BLK	HGNC	P51451	BLK_HUMAN	STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)	E9PJX5_HUMAN		2	697	+			UPI000006EA28	39					SNV	BLK,missense_variant,p.Pro39Leu,ENST00000259089,NM_001715.2;BLK,intron_variant,,ENST00000529894,;BLK,upstream_gene_variant,,ENST00000533828,;	uc003wty.2	c.116C>T	708/2606	2	2			c.116C>T						8	SNP	c.(115-117)CCG>CTG	35	35			large_intestine(1)|stomach(1)|ovary(1)	3	Broad	B lymphoid tyrosine kinase			11400849		0.393	ENSG00000136573	1411	g.chr8:11400849C>T	intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			676			676	25.73623	KEEP	3	7	-1	18	25	3	7	-1	27.334806	18	25	0.277778	1	0	0	0	0	1	0	0	0	--	--		0	T			BLK_uc003wtz.2_Intron	188	GBM-26-6174-TP	p.P39L	C	CCGCCACTGCCGCCCCTGGTG	NM_001715	NP_001706	11400849	P51451	BLK_HUMAN	0	STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)	2	697	+	T	T			Missense_Mutation	39						
BLK	640		GRCh37	8	11406564	11406564	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000259089.4:c.301G>A	p.Val101Ile	p.V101I	ENST00000259089	NM_001715.2	101	Gtc/Atc	0																																																																																																																																																																																																																																												
BLM	641		GRCh37	15	91341566	91341566	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000355112.3:c.3357G>A		p.X1119_splice	ENST00000355112	NM_000057.2	1119	ttG/ttA	0																																																																																																																																																																																																																																												
BMI1	648	broad.mit.edu	GRCh37	10	22615862	22615862	+	stop_gained	Nonsense_Mutation	SNP	T	T	G			TCGA-06-0166-01	TCGA-06-0166-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376663.3:c.156T>G	p.Tyr52Ter	p.Y52*	ENST00000376663	NM_005180.8	52	taT/taG	0			1			G	Y/*	uc001irh.2	protein_coding	YES	CCDS7138.1			156/981									ovary(1)|skin(1)	2	c.(154-156)TAT>TAG			Gene3D:3.30.40.10,Pfam_domain:PF00097,PROSITE_profiles:PS50089,hmmpanther:PTHR10825,hmmpanther:PTHR10825:SF21,SMART_domains:SM00184,Superfamily_domains:SSF57850	BMI1 polycomb ring finger oncogene				ENSP00000365851		10-Mar									COSM3397045	10-Mar	.		ENST00000376663	Transcript			hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding	ENSG00000168283	g.chr10:22615862T>G	1066			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,10,22615862,T,G&fts=all	Y52*	--	--	1																																		BMI1_uc009xkg.2_Nonsense_Mutation_p.Y195*	1	1			p.Y52*	NM_005180	NP_005171			1	BMI1_HUMAN	BMI1	HGNC	P35226	BMI1_HUMAN			Q5T8Z6_HUMAN,Q5T8Z4_HUMAN		3	795	+			UPI0000126A1D	52			RING-type.		SNV	BMI1,stop_gained,p.Tyr52Ter,ENST00000376663,NM_005180.8;COMMD3-BMI1,stop_gained,p.Tyr195Ter,ENST00000602390,NM_001204062.1;BMI1,stop_gained,p.Tyr29Ter,ENST00000443519,;BMI1,stop_gained,p.Tyr52Ter,ENST00000442508,;BMI1,stop_gained,p.Tyr52Ter,ENST00000416820,;COMMD3-BMI1,downstream_gene_variant,,ENST00000475460,;COMMD3-BMI1,downstream_gene_variant,,ENST00000489125,;COMMD3-BMI1,downstream_gene_variant,,ENST00000463409,;COMMD3-BMI1,3_prime_UTR_variant,,ENST00000417470,;BMI1,non_coding_transcript_exon_variant,,ENST00000602358,;BMI1,non_coding_transcript_exon_variant,,ENST00000602523,;BMI1,non_coding_transcript_exon_variant,,ENST00000456675,;BMI1,upstream_gene_variant,,ENST00000490311,;COMMD3-BMI1,downstream_gene_variant,,ENST00000602395,;BMI1,downstream_gene_variant,,ENST00000602524,;BMI1,upstream_gene_variant,,ENST00000496174,;	uc001irh.2	c.156T>G	661/3428	5	3			c.156T>G						10	SNP	c.(154-156)TAT>TAG	14	14			ovary(1)|skin(1)	2	Broad	BMI1 polycomb ring finger oncogene			22615862		0.343	ENSG00000168283	1422	g.chr10:22615862T>G	hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			116			116	-44.254163	KEEP	2	5	-1	129	149	2	5	-1	13.188919	129	149	0.025974	1	0	0	0	0	0	1	0	0	--	--		0	G			BMI1_uc009xkg.2_Nonsense_Mutation_p.Y195*	31	GBM-06-0166-TP	p.Y52*	T	CCAGCAAGTATTGTCCTATTT	NM_005180	NP_005171	22615862	P35226	BMI1_HUMAN	0			3	795	+	G	G			Nonsense_Mutation	52			RING-type.			
BMI1	648	broad.mit.edu	GRCh37	10	22617609	22617609	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2565-01	TCGA-06-2565-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376663.3:c.552C>T	p.Asp184=	p.D184=	ENST00000376663	NM_005180.8	184	gaC/gaT	0			1			T	D	uc001irh.2	protein_coding	YES	CCDS7138.1			552/981									ovary(1)|skin(1)	2	c.(550-552)GAC>GAT			hmmpanther:PTHR10825,hmmpanther:PTHR10825:SF21	BMI1 polycomb ring finger oncogene				ENSP00000365851		10-Aug	1.65E-05					3.00E-05			rs777644990,COSM2152987	10-Aug	.		ENST00000376663	Transcript			hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding	ENSG00000168283	g.chr10:22617609C>T	1066			LOW								--	--	1																																		BMI1_uc009xkg.2_Silent_p.D327D	0,1	1			p.D184D	NM_005180	NP_005171			0,1	BMI1_HUMAN	BMI1	HGNC	P35226	BMI1_HUMAN			Q5T8Z6_HUMAN,Q5T8Z4_HUMAN		8	1191	+			UPI0000126A1D	184			Interaction with E4F1.		SNV	BMI1,synonymous_variant,p.=,ENST00000376663,NM_005180.8;COMMD3-BMI1,synonymous_variant,p.=,ENST00000602390,NM_001204062.1;BMI1,synonymous_variant,p.=,ENST00000443519,;BMI1,downstream_gene_variant,,ENST00000442508,;COMMD3-BMI1,downstream_gene_variant,,ENST00000475460,;BMI1,downstream_gene_variant,,ENST00000416820,;COMMD3-BMI1,downstream_gene_variant,,ENST00000489125,;RP11-573G6.9,upstream_gene_variant,,ENST00000606988,;RP11-573G6.8,downstream_gene_variant,,ENST00000607282,;COMMD3-BMI1,downstream_gene_variant,,ENST00000463409,;COMMD3-BMI1,3_prime_UTR_variant,,ENST00000417470,;BMI1,non_coding_transcript_exon_variant,,ENST00000490311,;BMI1,non_coding_transcript_exon_variant,,ENST00000496174,;BMI1,downstream_gene_variant,,ENST00000602358,;BMI1,downstream_gene_variant,,ENST00000602523,;COMMD3-BMI1,downstream_gene_variant,,ENST00000602395,;BMI1,downstream_gene_variant,,ENST00000456675,;BMI1,downstream_gene_variant,,ENST00000602524,;	uc001irh.2	c.552C>T	1057/3428	2	2			c.552C>T						10	SNP	c.(550-552)GAC>GAT	42	42			ovary(1)|skin(1)	2	Broad	BMI1 polycomb ring finger oncogene			22617609		0.299	ENSG00000168283	1422	g.chr10:22617609C>T	hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			116			116	201.280504	KEEP	38	29	-1	8	9	38	29	-1	207.188706	8	9	0.78481	1	0	0	0	0	0	0	1	0	--	--		0	T			BMI1_uc009xkg.2_Silent_p.D327D	88	GBM-06-2565-TP	p.D184D	C	GTAAAATGGACATACCTAATA	NM_005180	NP_005171	22617609	P35226	BMI1_HUMAN	0			8	1191	+	T	T			Silent	184			Interaction with E4F1.			
BMI1	0	broad.mit.edu	GRCh37	10	22615480	22615480	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-28-5211-01	TCGA-28-5211-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376663.3:c.102T>G	p.Cys34Trp	p.C34W	ENST00000376663	NM_005180.8	34	tgT/tgG	0			1			G	C/W	uc001irh.2	protein_coding	YES	CCDS7138.1			102/981									ovary(1)|skin(1)	2	c.(100-102)TGT>TGG			Gene3D:3.30.40.10,Pfam_domain:PF00097,PROSITE_patterns:PS00518,PROSITE_profiles:PS50089,hmmpanther:PTHR10825,hmmpanther:PTHR10825:SF21,SMART_domains:SM00184,Superfamily_domains:SSF57850	BMI1 polycomb ring finger oncogene				ENSP00000365851		10-Feb									COSM3397044	10-Feb	.		ENST00000376663	Transcript			hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding	ENSG00000168283	g.chr10:22615480T>G	1066			MODERATE		4.99	high	getma.org/?cm=msa&ty=f&p=BMI1_HUMAN&rb=18&re=56&var=C34W	getma.org/pdb.php?prot=BMI1_HUMAN&from=18&to=56&var=C34W	getma.org/?cm=var&var=hg19,10,22615480,T,G&fts=all	C34W	--	--	1																																		BMI1_uc009xkg.2_Missense_Mutation_p.C177W	1	1		probably_damaging(1)	p.C34W	NM_005180	NP_005171		deleterious(0)	1	BMI1_HUMAN	BMI1	HGNC	P35226	BMI1_HUMAN			Q5T8Z6_HUMAN,Q5T8Z4_HUMAN		2	741	+			UPI0000126A1D	34			RING-type.		SNV	BMI1,missense_variant,p.Cys34Trp,ENST00000376663,NM_005180.8;COMMD3-BMI1,missense_variant,p.Cys177Trp,ENST00000602390,NM_001204062.1;BMI1,missense_variant,p.Cys11Trp,ENST00000443519,;BMI1,missense_variant,p.Cys34Trp,ENST00000442508,;COMMD3-BMI1,missense_variant,p.Cys157Trp,ENST00000475460,;BMI1,missense_variant,p.Cys34Trp,ENST00000416820,;COMMD3-BMI1,downstream_gene_variant,,ENST00000489125,;COMMD3-BMI1,downstream_gene_variant,,ENST00000463409,;COMMD3-BMI1,3_prime_UTR_variant,,ENST00000417470,;BMI1,non_coding_transcript_exon_variant,,ENST00000602358,;BMI1,non_coding_transcript_exon_variant,,ENST00000602523,;BMI1,non_coding_transcript_exon_variant,,ENST00000456675,;BMI1,non_coding_transcript_exon_variant,,ENST00000602524,;BMI1,upstream_gene_variant,,ENST00000490311,;COMMD3-BMI1,downstream_gene_variant,,ENST00000602395,;BMI1,upstream_gene_variant,,ENST00000496174,;	uc001irh.2	c.102T>G	607/3428	3	3			c.102T>G						10	SNP	c.(100-102)TGT>TGG	52	52			ovary(1)|skin(1)	2	Broad	BMI1 polycomb ring finger oncogene			22615480		0.413	ENSG00000168283	1422	g.chr10:22615480T>G	hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			116			116	65.272674	KEEP	14	9	-1	23	17	14	9	-1	66.134928	23	17	0.368421	1	0	0	0	0	1	0	0	0	--	--		0	G			BMI1_uc009xkg.2_Missense_Mutation_p.C177W	219	GBM-28-5211-TP	p.C34W	T	TAATAGAATGTCTACATTCCT	NM_005180	NP_005171	22615480	P35226	BMI1_HUMAN	0			2	741	+	G	G			Missense_Mutation	34			RING-type.			
BMP1	0	broad.mit.edu	GRCh37	8	22069181	22069181	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-12-0618-01	TCGA-12-0618-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306385.5:c.2901A>G	p.Lys967=	p.K967=	ENST00000306385	NM_006129.4	967	aaA/aaG	0			1			G	K	uc003xbg.2	protein_coding	YES	CCDS6026.1			2901/2961									ovary(2)|breast(1)	3	c.(2899-2901)AAA>AAG			PROSITE_profiles:PS01180,Pfam_domain:PF00431,Gene3D:2.60.120.290,PIRSF_domain:PIRSF001199,SMART_domains:SM00042,Superfamily_domains:SSF49854	bone morphogenetic protein 1 isoform 3				ENSP00000305714		20/20									COSM3412915	20/20	.		ENST00000306385	Transcript	1		cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	ENSG00000168487	g.chr8:22069181A>G	1067			LOW								--	--	1																																		BMP1_uc011kzc.1_Silent_p.K716K|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	1	1			p.K967K	NM_006129	NP_006120			1	BMP1_HUMAN	BMP1	HGNC	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)			20	3145	+			UPI0000049818	967			CUB 5.		SNV	BMP1,synonymous_variant,p.=,ENST00000306385,NM_006129.4;BMP1,3_prime_UTR_variant,,ENST00000354870,;BMP1,3_prime_UTR_variant,,ENST00000520970,;BMP1,3_prime_UTR_variant,,ENST00000520626,;BMP1,3_prime_UTR_variant,,ENST00000520982,;	uc003xbg.2	c.2901A>G	3571/4229	4	4			c.2901A>G						8	SNP	c.(2899-2901)AAA>AAG	29	29			ovary(2)|breast(1)	3	Broad	bone morphogenetic protein 1 isoform 3			22069181		0.577	ENSG00000168487	1423	g.chr8:22069181A>G	cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding							-58.536442	KEEP	1	3	-1	107	153	1	3	-1	8.393417	107	153	0.015873	1	0	0	0	0	0	0	1	0	--	--		0	G			BMP1_uc011kzc.1_Silent_p.K716K|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	119	GBM-12-0618-TP	p.K967K	A	TCACCAAAAAAGGTTTCCACC	NM_006129	NP_006120	22069181	P13497	BMP1_HUMAN	0		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	20	3145	+	G	G			Silent	967			CUB 5.			
BMP15	9210	broad.mit.edu	GRCh37	X	50659431	50659431	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0686-01	TCGA-06-0686-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252677.3:c.1003C>A	p.Pro335Thr	p.P335T	ENST00000252677	NM_005448.2	335	Ccc/Acc	0			1			A	P/T	uc011mnw.1	protein_coding	YES	CCDS14334.1			1003/1179									ovary(2)	2	c.(1003-1005)CCC>ACC			PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF22,Gene3D:2.10.90.10,Pfam_domain:PF00019,SMART_domains:SM00204,Superfamily_domains:SSF57501	bone morphogenetic protein 15 precursor				ENSP00000252677		2-Feb									COSM2151572	2-Feb	.		ENST00000252677	Transcript	1		female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	ENSG00000130385	g.chrX:50659431C>A	1068			MODERATE		0.595	neutral	getma.org/?cm=msa&ty=f&p=BMP15_HUMAN&rb=288&re=392&var=P335T	getma.org/pdb.php?prot=BMP15_HUMAN&from=288&to=392&var=P335T	getma.org/?cm=var&var=hg19,X,50659431,C,A&fts=all	P335T	--	--	1																																			1	1		possibly_damaging(0.836)	p.P335T	NM_005448	NP_005439		deleterious(0)	1	BMP15_HUMAN	BMP15	HGNC	O95972	BMP15_HUMAN					2	1003	+	Ovarian(276;0.236)		UPI000013CD7C	335					SNV	BMP15,missense_variant,p.Pro335Thr,ENST00000252677,NM_005448.2;	uc011mnw.1	c.1003C>A	1003/1179	1	1			c.1003C>A						23	SNP	c.(1003-1005)CCC>ACC	56	56			ovary(2)	2	Broad	bone morphogenetic protein 15 precursor			50659431		0.502	ENSG00000130385	1425	g.chrX:50659431C>A	female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity							172.677444	KEEP	33	23	0.410714286	9	4	33	23	0.410714286	178.948585	9	4	0.818182	1	0	0	0	0	1	0	0	0	--	--		0	A				64	GBM-06-0686-TP	p.P335T	C	TCTCAATTCCCCCAATCACGC	NM_005448	NP_005439	50659431	O95972	BMP15_HUMAN	0			2	1003	+	A	A	Ovarian(276;0.236)		Missense_Mutation	335						
BMP15	9210	broad.mit.edu	GRCh37	X	50659329	50659329	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252677.3:c.901C>T	p.Arg301Cys	p.R301C	ENST00000252677	NM_005448.2	301	Cgc/Tgc	0			1			T	R/C	uc011mnw.1	protein_coding	YES	CCDS14334.1			901/1179									ovary(2)	2	c.(901-903)CGC>TGC			PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF22,Gene3D:2.10.90.10,Pfam_domain:PF00019,SMART_domains:SM00204,Superfamily_domains:SSF57501,Prints_domain:PR00669	bone morphogenetic protein 15 precursor				ENSP00000252677		2-Feb	1.65E-05							0.000156	rs782724245,COSM3406456	2-Feb	.		ENST00000252677	Transcript	1		female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	ENSG00000130385	g.chrX:50659329C>T	1068			MODERATE		2.31	medium	getma.org/?cm=msa&ty=f&p=BMP15_HUMAN&rb=288&re=392&var=R301C	getma.org/pdb.php?prot=BMP15_HUMAN&from=288&to=392&var=R301C	getma.org/?cm=var&var=hg19,X,50659329,C,T&fts=all	R301C	--	--	1																																			0,1	1		probably_damaging(0.953)	p.R301C	NM_005448	NP_005439		tolerated(0.09)	0,1	BMP15_HUMAN	BMP15	HGNC	O95972	BMP15_HUMAN					2	901	+	Ovarian(276;0.236)		UPI000013CD7C	301					SNV	BMP15,missense_variant,p.Arg301Cys,ENST00000252677,NM_005448.2;	uc011mnw.1	c.901C>T	901/1179	2	2			c.901C>T						23	SNP	c.(901-903)CGC>TGC	29	29			ovary(2)	2	Broad	bone morphogenetic protein 15 precursor			50659329		0.498	ENSG00000130385	1425	g.chrX:50659329C>T	female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity							287.276538	KEEP	56	42	-1	22	22	56	42	-1	291.06052	22	22	0.689076	1	0	0	0	0	1	0	0	0	--	--		0	T				102	GBM-06-5858-TP	p.R301C	C	AATCAGCTTCCGCCAGCTGGG	NM_005448	NP_005439	50659329	O95972	BMP15_HUMAN	0			2	901	+	T	T	Ovarian(276;0.236)		Missense_Mutation	301						
BMP15	0	broad.mit.edu	GRCh37	X	50653945	50653945	+	synonymous_variant	Silent	SNP	C	C	T	rs149633402		TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252677.3:c.162C>T	p.Gly54=	p.G54=	ENST00000252677	NM_005448.2	54	ggC/ggT	0	T:0.0003	T:0	1	T:0		T	G	uc011mnw.1	protein_coding	YES	CCDS14334.1			162/1179									ovary(2)	2	c.(160-162)GGC>GGT			Low_complexity_(Seg):seg,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF22	bone morphogenetic protein 15 precursor		T:0	T:0.0003	ENSP00000252677	T:0.001	2-Jan	0.000167		0.000303			0.000273	0.00377	0.00035	rs149633402,COSM3406455	2-Jan	.		ENST00000252677	Transcript	1	T:0.0003	female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	ENSG00000130385	g.chrX:50653945C>T	1068			LOW								--	--	1																																			0,1	1			p.G54G	NM_005448	NP_005439	T:0		0,1	BMP15_HUMAN	BMP15	HGNC	O95972	BMP15_HUMAN					1	162	+	Ovarian(276;0.236)		UPI000013CD7C	54					SNV	BMP15,synonymous_variant,p.=,ENST00000252677,NM_005448.2;	uc011mnw.1	c.162C>T	162/1179	1	1			c.162C>T						23	SNP	c.(160-162)GGC>GGT	12	12			ovary(2)	2	Broad	bone morphogenetic protein 15 precursor			50653945		0.592	ENSG00000130385	1425	g.chrX:50653945C>T	female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity							20.148781	KEEP	4	3	-1	6	3	4	3	-1	20.16009	6	3	0.466667	1	0	0	0	0	0	0	1	0	--	--		0	T				159	GBM-19-1390-TP	p.G54G	C	AATCCCCTGGCGAACAGCCAA	NM_005448	NP_005439	50653945	O95972	BMP15_HUMAN	0			1	162	+	T	T	Ovarian(276;0.236)		Silent	54						
BMP2	0	broad.mit.edu	GRCh37	20	6758901	6758901	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-12-5295-01	TCGA-12-5295-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378827.4:c.356A>T	p.Glu119Val	p.E119V	ENST00000378827	NM_001200.2	119	gAa/gTa	0			1			T	E/V	uc002wmu.1	protein_coding	YES	CCDS13099.1			356/1191									ovary(1)|breast(1)	2	c.(355-357)GAA>GTA			hmmpanther:PTHR11848:SF143,hmmpanther:PTHR11848,Pfam_domain:PF00688	bone morphogenetic protein 2 preproprotein	Simvastatin(DB00641)			ENSP00000368104		3-Mar									COSM3405296	3-Mar	.		ENST00000378827	Transcript	1		BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding	ENSG00000125845	g.chr20:6758901A>T	1069			MODERATE		2.415	medium	getma.org/?cm=msa&ty=f&p=BMP2_HUMAN&rb=28&re=267&var=E119V	NA	getma.org/?cm=var&var=hg19,20,6758901,A,T&fts=all	E119V	--	--	1																																			1	1		probably_damaging(0.991)	p.E119V	NM_001200	NP_001191		deleterious(0)	1	BMP2_HUMAN	BMP2	HGNC	P12643	BMP2_HUMAN			U3N491_HUMAN,C8C069_HUMAN,C8C060_HUMAN		3	1141	+			UPI0000126A21	119					SNV	BMP2,missense_variant,p.Glu119Val,ENST00000378827,NM_001200.2;	uc002wmu.1	c.356A>T	1575/3601	1	1			c.356A>T						20	SNP	c.(355-357)GAA>GTA	3	3			ovary(1)|breast(1)	2	Broad	bone morphogenetic protein 2 preproprotein		Simvastatin(DB00641)	6758901		0.363	ENSG00000125845	1426	g.chr20:6758901A>T	BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding							-26.291661	KEEP	5	4	-1	86	85	5	4	-1	11.046931	86	85	0.037267	1	0	0	0	0	1	0	0	0	--	--		0	T				129	GBM-12-5295-TP	p.E119V	A	GAATCTTTGGAAGAACTACCA	NM_001200	NP_001191	6758901	P12643	BMP2_HUMAN	0			3	1141	+	T	T			Missense_Mutation	119						
BMP2K	55589		GRCh37	4	79772148	79772148	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000335016.5:c.821G>A	p.Cys274Tyr	p.C274Y	ENST00000335016	NM_198892.1	274	tGt/tAt	0																																																																																																																																																																																																																																												
BMP3	651	broad.mit.edu	GRCh37	4	81967402	81967402	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0155-01	TCGA-06-0155-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282701.2:c.827A>G	p.His276Arg	p.H276R	ENST00000282701	NM_001201.2	276	cAc/cGc	0			1			G	H/R	uc003hmg.3	protein_coding	YES	CCDS3588.1			827/1419									ovary(4)|central_nervous_system(1)	5	c.(826-828)CAC>CGC			hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF144,PIRSF_domain:PIRSF037403	bone morphogenetic protein 3 preproprotein				ENSP00000282701		3-Feb									COSM2149970	3-Feb	.		ENST00000282701	Transcript			cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	ENSG00000152785	g.chr4:81967402A>G	1070			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=BMP3_HUMAN&rb=239&re=366&var=H276R	NA	getma.org/?cm=var&var=hg19,4,81967402,A,G&fts=all	H276R	--	--	1																																			1	1		benign(0.008)	p.H276R	NM_001201	NP_001192		tolerated(0.19)	1	BMP3_HUMAN	BMP3	HGNC	P12645	BMP3_HUMAN			D7NU02_HUMAN,D7NT62_HUMAN		2	1147	+			UPI0000051C21	276					SNV	BMP3,missense_variant,p.His276Arg,ENST00000282701,NM_001201.2;	uc003hmg.3	c.827A>G	1147/5734	3	3			c.827A>G						4	SNP	c.(826-828)CAC>CGC	52	52			ovary(4)|central_nervous_system(1)	5	Broad	bone morphogenetic protein 3 preproprotein			81967402		0.517	ENSG00000152785	1428	g.chr4:81967402A>G	cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity							114.24997	KEEP	23	22	-1	49	56	23	22	-1	119.406939	49	56	0.294118	1	0	0	0	0	1	0	0	0	--	--		0	G				27	GBM-06-0155-TP	p.H276R	A	TGGGATAGCCACATCAGAGCT	NM_001201	NP_001192	81967402	P12645	BMP3_HUMAN	0			2	1147	+	G	G			Missense_Mutation	276						
BMP3	651	broad.mit.edu	GRCh37	4	81952456	81952456	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5415-01	TCGA-06-5415-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282701.2:c.18G>A	p.Arg6=	p.R6=	ENST00000282701	NM_001201.2	6	agG/agA	0	A:0		1			A	R	uc003hmg.3	protein_coding	YES	CCDS3588.1			18/1419									ovary(4)|central_nervous_system(1)	5	c.(16-18)AGG>AGA			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF144,PIRSF_domain:PIRSF037403	bone morphogenetic protein 3 preproprotein			A:0.0002	ENSP00000282701		3-Jan	6.60E-05					0.000213			rs368705872,COSM2153250	3-Jan	.		ENST00000282701	Transcript			cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	ENSG00000152785	g.chr4:81952456G>A	1070			LOW								--	--	1																																			0,1	1			p.R6R	NM_001201	NP_001192			0,1	BMP3_HUMAN	BMP3	HGNC	P12645	BMP3_HUMAN			D7NU02_HUMAN,D7NT62_HUMAN		1	338	+			UPI0000051C21	6					SNV	BMP3,synonymous_variant,p.=,ENST00000282701,NM_001201.2;	uc003hmg.3	c.18G>A	338/5734	2	2			c.18G>A						4	SNP	c.(16-18)AGG>AGA	30	30			ovary(4)|central_nervous_system(1)	5	Broad	bone morphogenetic protein 3 preproprotein			81952456		0.706	ENSG00000152785	1428	g.chr4:81952456G>A	cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity							17.839151	KEEP	7	4	-1	3	2	7	4	-1	18.288871	3	2	0.75	1	0	0	0	0	0	0	1	0	--	--		0	A				98	GBM-06-5415-TP	p.R6R	G	GGGCGAGCAGGCTGCTCTTTC	NM_001201	NP_001192	81952456	P12645	BMP3_HUMAN	0			1	338	+	A	A			Silent	6						
BMP3	0	broad.mit.edu	GRCh37	4	81967723	81967723	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-27-2528-01	TCGA-27-2528-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282701.2:c.1148G>T	p.Gly383Val	p.G383V	ENST00000282701	NM_001201.2	383	gGc/gTc	0			1			T	G/V	uc003hmg.3	protein_coding	YES	CCDS3588.1			1148/1419									ovary(4)|central_nervous_system(1)	5	c.(1147-1149)GGC>GTC			PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF144,Gene3D:2.10.90.10,Pfam_domain:PF00019,SMART_domains:SM00204,PIRSF_domain:PIRSF037403,Superfamily_domains:SSF57501	bone morphogenetic protein 3 preproprotein				ENSP00000282701		3-Feb									COSM3409568	3-Feb	.		ENST00000282701	Transcript			cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	ENSG00000152785	g.chr4:81967723G>T	1070			MODERATE		4.215	high	getma.org/?cm=msa&ty=f&p=BMP3_HUMAN&rb=367&re=472&var=G383V	getma.org/pdb.php?prot=BMP3_HUMAN&from=367&to=472&var=G383V	getma.org/?cm=var&var=hg19,4,81967723,G,T&fts=all	G383V	--	--	1																																			1	1		probably_damaging(1)	p.G383V	NM_001201	NP_001192		deleterious(0)	1	BMP3_HUMAN	BMP3	HGNC	P12645	BMP3_HUMAN			D7NU02_HUMAN,D7NT62_HUMAN		2	1468	+			UPI0000051C21	383					SNV	BMP3,missense_variant,p.Gly383Val,ENST00000282701,NM_001201.2;	uc003hmg.3	c.1148G>T	1468/5734	2	2			c.1148G>T						4	SNP	c.(1147-1149)GGC>GTC	35	35			ovary(4)|central_nervous_system(1)	5	Broad	bone morphogenetic protein 3 preproprotein			81967723		0.478	ENSG00000152785	1428	g.chr4:81967723G>T	cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity							367.903939	KEEP	59	67	0.468253968	93	121	59	67	0.468253968	367.926723	93	121	0.51073	1	0	0	0	0	1	0	0	0	--	--		0	T				205	GBM-27-2528-TP	p.G383V	G	GCAGATATTGGCTGGAGTGAA	NM_001201	NP_001192	81967723	P12645	BMP3_HUMAN	0			2	1468	+	T	T			Missense_Mutation	383						
BMP5	0	broad.mit.edu	GRCh37	6	55638880	55638880	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01	TCGA-19-2631-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370830.3:c.994C>T	p.His332Tyr	p.H332Y	ENST00000370830	NM_021073.2	332	Cat/Tat	0			1			A	H/Y	uc003pcq.2	protein_coding	YES	CCDS4958.1			994/1365									ovary(2)	2	c.(994-996)CAT>TAT			Low_complexity_(Seg):seg,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF139	bone morphogenetic protein 5 preproprotein				ENSP00000359866		7-Apr									COSM2156389	7-Apr	.		ENST00000370830	Transcript			cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	ENSG00000112175	g.chr6:55638880G>A	1072			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=BMP5_HUMAN&rb=305&re=349&var=H332Y	NA	getma.org/?cm=var&var=hg19,6,55638880,G,A&fts=all	H332Y	--	--	1																																		BMP5_uc011dxf.1_Missense_Mutation_p.H332Y	1	1		benign(0.002)	p.H332Y	NM_021073	NP_066551		tolerated(1)	1	BMP5_HUMAN	BMP5	HGNC	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		M9VUD0_HUMAN		4	1706	-	Lung NSC(77;0.0462)		UPI0000126A2C	332					SNV	BMP5,missense_variant,p.His332Tyr,ENST00000370830,NM_021073.2;BMP5,missense_variant,p.His332Tyr,ENST00000446683,;	uc003pcq.2	c.994C>T	1693/3952	2	2			c.994C>T						6	SNP	c.(994-996)CAT>TAT	32	32			ovary(2)	2	Broad	bone morphogenetic protein 5 preproprotein			55638880		0.468	ENSG00000112175	1430	g.chr6:55638880G>A	cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity							202.26746	KEEP	36	53	-1	57	79	36	53	-1	204.741048	57	79	0.37766	1	0	0	0	0	1	0	0	0	--	--		0	A			BMP5_uc011dxf.1_Missense_Mutation_p.H332Y	167	GBM-19-2631-TP	p.H332Y	G	GAGTCCTGATGAGAGCTGGAT	NM_021073	NP_066551	55638880	P22003	BMP5_HUMAN	0	LUSC - Lung squamous cell carcinoma(124;0.181)		4	1706	-	A	A	Lung NSC(77;0.0462)		Missense_Mutation	332						
BMP5	653		GRCh37	6	55739290	55739290	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000370830.3:c.374G>A	p.Arg125His	p.R125H	ENST00000370830	NM_021073.2	125	cGt/cAt	0																																																																																																																																																																																																																																												
BMP6	0	broad.mit.edu	GRCh37	6	7727630	7727630	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4209-01	TCGA-32-4209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283147.6:c.442G>A	p.Asp148Asn	p.D148N	ENST00000283147	NM_001718.4	148	Gac/Aac	0			1			A	D/N	uc003mxu.3	protein_coding	YES	CCDS4503.1			442/1542									large_intestine(2)|ovary(1)	3	c.(442-444)GAC>AAC			hmmpanther:PTHR11848:SF137,hmmpanther:PTHR11848,Pfam_domain:PF00688	bone morphogenetic protein 6 preproprotein				ENSP00000283147		7-Jan									COSM3411300	7-Jan	.		ENST00000283147	Transcript			BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	ENSG00000153162	g.chr6:7727630G>A	1073			MODERATE		0.425	neutral	getma.org/?cm=msa&ty=f&p=BMP6_HUMAN&rb=43&re=362&var=D148N	NA	getma.org/?cm=var&var=hg19,6,7727630,G,A&fts=all	D148N	--	--	1																																			1	1		benign(0.176)	p.D148N	NM_001718	NP_001709		tolerated(0.09)	1	BMP6_HUMAN	BMP6	HGNC	P22004	BMP6_HUMAN			B4DUF7_HUMAN		1	620	+	Ovarian(93;0.0721)		UPI0000126A2D	148					SNV	BMP6,missense_variant,p.Asp148Asn,ENST00000283147,NM_001718.4;	uc003mxu.3	c.442G>A	601/2780	2	2			c.442G>A						6	SNP	c.(442-444)GAC>AAC	47	47			large_intestine(2)|ovary(1)	3	Broad	bone morphogenetic protein 6 preproprotein			7727630		0.682	ENSG00000153162	1431	g.chr6:7727630G>A	BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity							2.903815	KEEP	0	3	-1	16	14	0	3	-1	7.192192	16	14	0.107143	1	0	0	0	0	1	0	0	0	--	--		0	A				244	GBM-32-4209-TP	p.D148N	G	CGCCGACAACGACGAGGACGG	NM_001718	NP_001709	7727630	P22004	BMP6_HUMAN	0			1	620	+	A	A	Ovarian(93;0.0721)		Missense_Mutation	148						
BMP7	0	broad.mit.edu	GRCh37	20	55777537	55777537	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0813-01	TCGA-14-0813-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395863.3:c.754C>T	p.Leu252=	p.L252=	ENST00000395863	NM_001719.2	252	Ctg/Ttg	0			1			A	L	uc010gip.1	protein_coding	YES	CCDS13455.1			754/1296									skin(1)	1	c.(754-756)CTG>TTG			hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF135,Pfam_domain:PF00688	bone morphogenetic protein 7 precursor				ENSP00000379204		7-Mar									COSM2154712	7-Mar	.		ENST00000395863	Transcript			BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity	ENSG00000101144	g.chr20:55777537G>A	1074			LOW								--	--	1																																		BMP7_uc010giq.1_Silent_p.L252L|BMP7_uc002xyc.2_Silent_p.L252L	1	1			p.L252L	NM_001719	NP_001710			1	BMP7_HUMAN	BMP7	HGNC	P18075	BMP7_HUMAN	BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)		Q9NQQ8_HUMAN,Q9H2W7_HUMAN,A8K571_HUMAN		3	1283	-	all_lung(29;0.0133)|Melanoma(10;0.242)		UPI00000349AD	252					SNV	BMP7,synonymous_variant,p.=,ENST00000395863,NM_001719.2;BMP7,synonymous_variant,p.=,ENST00000450594,;BMP7,synonymous_variant,p.=,ENST00000395864,;BMP7,synonymous_variant,p.=,ENST00000433911,;BMP7,non_coding_transcript_exon_variant,,ENST00000460817,;BMP7,non_coding_transcript_exon_variant,,ENST00000530870,;BMP7,non_coding_transcript_exon_variant,,ENST00000524700,;	uc010gip.1	c.754C>T	1260/4013	2	2			c.754C>T						20	SNP	c.(754-756)CTG>TTG	46	46			skin(1)	1	Broad	bone morphogenetic protein 7 precursor			55777537		0.607	ENSG00000101144	1432	g.chr20:55777537G>A	BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity							51.202168	KEEP	10	10	-1	12	10	10	10	-1	51.326369	12	10	0.571429	1	0	0	0	0	0	0	1	0	--	--		0	A			BMP7_uc010giq.1_Silent_p.L252L|BMP7_uc002xyc.2_Silent_p.L252L	138	GBM-14-0813-TP	p.L252L	G	TCACCATCCAGCGTCTCCACC	NM_001719	NP_001710	55777537	P18075	BMP7_HUMAN	0	BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)		3	1283	-	A	A	all_lung(29;0.0133)|Melanoma(10;0.242)		Silent	252						
BMPER	0	broad.mit.edu	GRCh37	7	34118619	34118619	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01	TCGA-76-4926-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297161.2:c.1229G>A	p.Arg410His	p.R410H	ENST00000297161	NM_133468.4	410	cGc/cAc	0			1			A	R/H	uc011kap.1	protein_coding	YES	CCDS5442.1			1229/2058									ovary(2)|central_nervous_system(1)	3	c.(1228-1230)CGC>CAC			Pfam_domain:PF00094,PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF254,SMART_domains:SM00216	BMP-binding endothelial regulator precursor				ENSP00000297161		13/16									COSM3412000	13/16	.		ENST00000297161	Transcript	1		blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		ENSG00000164619	g.chr7:34118619G>A	24154			MODERATE		2.475	medium	getma.org/?cm=msa&ty=f&p=BMPER_HUMAN&rb=364&re=514&var=R410H	NA	getma.org/?cm=var&var=hg19,7,34118619,G,A&fts=all	R410H	--	--	1																																			1	1		probably_damaging(0.915)	p.R410H	NM_133468	NP_597725		deleterious(0)	1	BMPER_HUMAN	BMPER	HGNC	Q8N8U9	BMPER_HUMAN					12	1343	+			UPI000006D462	410			VWFD.		SNV	BMPER,missense_variant,p.Arg410His,ENST00000297161,NM_133468.4;BMPER,missense_variant,p.Arg410His,ENST00000426693,;BMPER,intron_variant,,ENST00000476525,;	uc011kap.1	c.1229G>A	1603/5031	2	2			c.1229G>A						7	SNP	c.(1228-1230)CGC>CAC	37	37			ovary(2)|central_nervous_system(1)	3	Broad	BMP-binding endothelial regulator precursor			34118619		0.622	ENSG00000164619	1435	g.chr7:34118619G>A	blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space								223.765954	KEEP	57	53	-1	161	157	57	53	-1	238.804605	161	157	0.280802	1	0	0	0	0	1	0	0	0	--	--		0	A				266	GBM-76-4926-TP	p.R410H	G	AACGACGCCCGCCGGACACGC	NM_133468	NP_597725	34118619	Q8N8U9	BMPER_HUMAN	0			12	1343	+	A	A			Missense_Mutation	410			VWFD.			
BMPR1B	658		GRCh37	4	96075770	96075770	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000440890.2:c.1545G>C	p.Leu515=	p.L515=	ENST00000440890		515	ctG/ctC	0																																																																																																																																																																																																																																												
BMPR2	0	broad.mit.edu	GRCh37	2	203397336	203397336	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-1747-01	TCGA-28-1747-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374580.4:c.1157A>G	p.Glu386Gly	p.E386G	ENST00000374580	NM_001204.6	386	gAa/gGa	0			1			G	E/G	uc002uzf.3	protein_coding	YES	CCDS33361.1			1157/3117									ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9	c.(1156-1158)GAA>GGA			Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF63,Superfamily_domains:SSF56112	bone morphogenetic protein receptor type II				ENSP00000363708		13-Sep									COSM3407492	13-Sep	.		ENST00000374580	Transcript	1		anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	ENSG00000204217	g.chr2:203397336A>G	1078			MODERATE		4.095	high	getma.org/?cm=msa&ty=f&p=BMPR2_HUMAN&rb=203&re=501&var=E386G	getma.org/pdb.php?prot=BMPR2_HUMAN&from=203&to=501&var=E386G	getma.org/?cm=var&var=hg19,2,203397336,A,G&fts=all	E386G	--	--	1																																		BMPR2_uc010ftr.2_Missense_Mutation_p.E386G	1	1		probably_damaging(1)	p.E386G	NM_001204	NP_001195		deleterious(0)	1	BMPR2_HUMAN	BMPR2	HGNC	Q13873	BMPR2_HUMAN					9	2305	+			UPI0000126A3B	386			Protein kinase.|Cytoplasmic (Potential).		SNV	BMPR2,missense_variant,p.Glu386Gly,ENST00000374580,NM_001204.6;BMPR2,missense_variant,p.Glu386Gly,ENST00000374574,;	uc002uzf.3	c.1157A>G	1696/11461	4	4			c.1157A>G						2	SNP	c.(1156-1158)GAA>GGA	32	32			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9	Broad	bone morphogenetic protein receptor type II			203397336		0.318	ENSG00000204217	1438	g.chr2:203397336A>G	anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			409			409	184.269573	KEEP	26	32	-1	54	45	26	32	-1	186.202855	54	45	0.374101	1	0	0	0	0	1	0	0	0	--	--		0	G			BMPR2_uc010ftr.2_Missense_Mutation_p.E386G	206	GBM-28-1747-TP	p.E386G	A	ATGGCACCAGAAGTGCTAGAA	NM_001204	NP_001195	203397336	Q13873	BMPR2_HUMAN	0			9	2305	+	G	G			Missense_Mutation	386			Protein kinase.|Cytoplasmic (Potential).			
BMS1	9790	broad.mit.edu	GRCh37	10	43312886	43312888	+	inframe_deletion	In_Frame_Del	DEL	GAA	GAA	-			TCGA-02-2485-01	TCGA-02-2485-01	GAA	GAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374518.5:c.2525_2527del	p.Glu842del	p.E842del	ENST00000374518	NM_014753.3	842	GAA/-	0			1			-	E/-	uc001jaj.2	protein_coding	YES	CCDS7199.1			2524-2526/3849									ovary(2)|upper_aerodigestive_tract(1)	3	c.(2524-2526)GAAdel			Pfam_domain:PF04950,hmmpanther:PTHR12858:SF2,hmmpanther:PTHR12858	BMS1-like, ribosome assembly protein				ENSP00000363642		15/23										15/23	.		ENST00000374518	Transcript	1		ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	ENSG00000165733	g.chr10:43312886_43312888delGAA	23505	1		MODERATE								--	--	1																																				1			p.E842del	NM_014753	NP_055568				BMS1_HUMAN	BMS1	HGNC	Q14692	BMS1_HUMAN					15	2882_2884	+			UPI0000126A3E	842					deletion	BMS1,inframe_deletion,p.Glu842del,ENST00000374518,NM_014753.3;	uc001jaj.2	c.2524_2526delGAA	2587-2589/7753	5	5			c.2524_2526delGAA						10	DEL	c.(2524-2526)GAAdel	41	41			ovary(2)|upper_aerodigestive_tract(1)	3	Broad	BMS1-like, ribosome assembly protein			43312888		0.384	ENSG00000165733	1439	g.chr10:43312886_43312888delGAA	ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity																				0.25	1	1	0	1	0	0	0	0	0	--	--		0	-				7	GBM-02-2485-TP	p.E842del	GAA	AGAATATGATGAAGGAGAAAGCA	NM_014753	NP_055568	43312886	Q14692	BMS1_HUMAN	0			15	2882_2884	+	-	-			In_Frame_Del	842						
BMX	660		GRCh37	X	15526512	15526512	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000357607.2:c.36C>G	p.Leu12=	p.L12=	ENST00000357607		12	ctC/ctG	0																																																																																																																																																																																																																																												
BNC1	0	broad.mit.edu	GRCh37	15	83933192	83933192	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345382.2:c.811G>C	p.Asp271His	p.D271H	ENST00000345382	NM_001717.3	271	Gac/Cac	0			1			G	D/H	uc002bjt.1	protein_coding	YES	CCDS10324.1			811/2985									ovary(3)	3	c.(811-813)GAC>CAC			hmmpanther:PTHR15021,hmmpanther:PTHR15021:SF1	basonuclin 1				ENSP00000307041		5-Apr									COSM3401963	5-Apr	.		ENST00000345382	Transcript			epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000169594	g.chr15:83933192C>G	1081			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=BNC1_HUMAN&rb=201&re=356&var=D271H	NA	getma.org/?cm=var&var=hg19,15,83933192,C,G&fts=all	D271H	--	--	1																																		BNC1_uc010uos.1_Missense_Mutation_p.D259H	1	1		possibly_damaging(0.866)	p.D271H	NM_001717	NP_001708		tolerated(0.65)	1	BNC1_HUMAN	BNC1	HGNC	Q01954	BNC1_HUMAN					4	899	-			UPI0000126796	271					SNV	BNC1,missense_variant,p.Asp271His,ENST00000345382,NM_001717.3;BNC1,missense_variant,p.Asp264His,ENST00000569704,;RP11-382A20.4,intron_variant,,ENST00000565495,;	uc002bjt.1	c.811G>C	897/4610	4	4			c.811G>C						15	SNP	c.(811-813)GAC>CAC	21	21			ovary(3)	3	Broad	basonuclin 1			83933192		0.488	ENSG00000169594	1441	g.chr15:83933192C>G	epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							-17.567865	KEEP	2	2	-1	46	59	2	2	-1	6.684741	46	59	0.03	1	0	0	0	0	1	0	0	0	--	--		0	G			BNC1_uc010uos.1_Missense_Mutation_p.D259H	160	GBM-19-1790-TP	p.D271H	C	TGACTTTGGTCATGACCCTGC	NM_001717	NP_001708	83933192	Q01954	BNC1_HUMAN	0			4	899	-	G	G			Missense_Mutation	271						
BNC2	0	broad.mit.edu	GRCh37	9	16435843	16435843	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4926-01	TCGA-76-4926-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380672.4:c.2349C>T	p.Tyr783=	p.Y783=	ENST00000380672	NM_017637.5	783	taC/taT	0	A:0.0002	A:0	1	A:0		A	Y	uc003zml.2	protein_coding	YES	CCDS6482.2			2349/3300									ovary(2)|central_nervous_system(1)	3	c.(2347-2349)TAC>TAT			hmmpanther:PTHR15021,hmmpanther:PTHR15021:SF2	basonuclin 2		A:0	A:0	ENSP00000370047	A:0	7-Jun	9.88E-05	9.61E-05		0.000694		1.50E-05		0.000242	rs371557826,COSM3090840,COSM3413526,COSM3413528,COSM3413527	7-Jun	common_variant		ENST00000380672	Transcript		A:0.0002	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	ENSG00000173068	g.chr9:16435843G>A	30988			LOW								--	--	1																																		BNC2_uc011lmw.1_Silent_p.Y688Y|BNC2_uc003zmm.2_Silent_p.Y741Y|BNC2_uc003zmq.1_Silent_p.Y797Y|BNC2_uc003zmr.1_Silent_p.Y820Y|BNC2_uc003zmp.1_Silent_p.Y811Y|BNC2_uc010mij.1_Silent_p.Y705Y|BNC2_uc011lmv.1_Silent_p.Y609Y|BNC2_uc003zmo.1_Silent_p.Y705Y|BNC2_uc003zmj.2_Silent_p.Y548Y|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Silent_p.Y548Y|BNC2_uc003zmn.1_Silent_p.Y548Y	0,1,1,1,1	1			p.Y783Y	NM_017637	NP_060107	A:0.001		0,1,1,1,1	BNC2_HUMAN	BNC2	HGNC	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	S4R351_HUMAN,Q06HC7_HUMAN,Q06HC2_HUMAN,Q06HB9_HUMAN,D3DRJ1_HUMAN		6	2489	-			UPI000035E7B0	783					SNV	BNC2,synonymous_variant,p.=,ENST00000380672,NM_017637.5;BNC2,synonymous_variant,p.=,ENST00000418777,;BNC2,synonymous_variant,p.=,ENST00000380667,;BNC2,synonymous_variant,p.=,ENST00000545497,;BNC2,synonymous_variant,p.=,ENST00000380666,;BNC2,synonymous_variant,p.=,ENST00000411752,;BNC2,downstream_gene_variant,,ENST00000603713,;BNC2,synonymous_variant,p.=,ENST00000484726,;	uc003zml.2	c.2349C>T	2407/12844	2	2			c.2349C>T						9	SNP	c.(2347-2349)TAC>TAT	45	45			ovary(2)|central_nervous_system(1)	3	Broad	basonuclin 2			16435843		0.493	ENSG00000173068	1442	g.chr9:16435843G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding							195.688913	KEEP	46	33	-1	53	56	46	33	-1	196.228869	53	56	0.438272	1	0	0	0	0	0	0	1	0	--	--		0	A			BNC2_uc011lmw.1_Silent_p.Y688Y|BNC2_uc003zmm.2_Silent_p.Y741Y|BNC2_uc003zmq.1_Silent_p.Y797Y|BNC2_uc003zmr.1_Silent_p.Y820Y|BNC2_uc003zmp.1_Silent_p.Y811Y|BNC2_uc010mij.1_Silent_p.Y705Y|BNC2_uc011lmv.1_Silent_p.Y609Y|BNC2_uc003zmo.1_Silent_p.Y705Y|BNC2_uc003zmj.2_Silent_p.Y548Y|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Silent_p.Y548Y|BNC2_uc003zmn.1_Silent_p.Y548Y	266	GBM-76-4926-TP	p.Y783Y	G	AAAACATGTCGTAAGTGGGGT	NM_017637	NP_060107	16435843	Q6ZN30	BNC2_HUMAN	0		GBM - Glioblastoma multiforme(50;9.01e-08)	6	2489	-	A	A			Silent	783						
BNC2	54796		GRCh37	9	16437497	16437497	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000380672.4:c.695G>A	p.Arg232His	p.R232H	ENST00000380672	NM_017637.5	232	cGc/cAc	0																																																																																																																																																																																																																																												
BNC2	54796		GRCh37	9	16435990	16435990	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000380672.4:c.2202C>T	p.Gly734=	p.G734=	ENST00000380672	NM_017637.5	734	ggC/ggT	0																																																																																																																																																																																																																																												
BNIP1	662		GRCh37	5	172585746	172585746	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000231668.9:c.399-1G>A		p.X133_splice	ENST00000231668	NM_013979.2	133		0																																																																																																																																																																																																																																												
BOC	0	broad.mit.edu	GRCh37	3	112997000	112997000	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs149038528		TCGA-76-6282-01	TCGA-76-6282-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355385.3:c.1598G>A	p.Arg533His	p.R533H	ENST00000355385	NM_033254.2	533	cGc/cAc	0	A:0.0002		1			A	R/H	uc003dzx.2	protein_coding		CCDS2971.1			1598/3345									ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6	c.(1597-1599)CGC>CAC			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF11,SMART_domains:SM00060,Superfamily_domains:SSF49265	brother of CDO precursor			A:0.0001	ENSP00000347546		20-Oct	5.77E-05					0.000105			rs149038528,COSM3118659	20-Oct	.		ENST00000355385	Transcript			cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	ENSG00000144857	g.chr3:112997000G>A	17173			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=BOC_HUMAN&rb=474&re=561&var=R533H	NA	getma.org/?cm=var&var=hg19,3,112997000,G,A&fts=all	R533H	--	--	1																																		BOC_uc003dzy.2_Missense_Mutation_p.R533H|BOC_uc003dzz.2_Missense_Mutation_p.R534H|BOC_uc003eab.2_Missense_Mutation_p.R234H|BOC_uc003eac.2_5'Flank	0,1			benign(0.013)	p.R533H	NM_033254	NP_150279		tolerated(0.13)	0,1	BOC_HUMAN	BOC	HGNC	Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		C9J9M5_HUMAN,C9J7V2_HUMAN,C9J2L7_HUMAN		10	2219	+			UPI0000072E0E	533			Fibronectin type-III 1.|Extracellular (Potential).		SNV	BOC,missense_variant,p.Arg533His,ENST00000495514,;BOC,missense_variant,p.Arg533His,ENST00000355385,NM_033254.2;BOC,missense_variant,p.Arg534His,ENST00000273395,;BOC,non_coding_transcript_exon_variant,,ENST00000497495,;BOC,non_coding_transcript_exon_variant,,ENST00000466059,;BOC,non_coding_transcript_exon_variant,,ENST00000479182,;BOC,upstream_gene_variant,,ENST00000463971,;	uc003dzx.2	c.1598G>A	1937/4278	2	2			c.1598G>A						3	SNP	c.(1597-1599)CGC>CAC	29	29			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6	Broad	brother of CDO precursor			112997000		0.567	ENSG00000144857	1448	g.chr3:112997000G>A	cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding							106.936928	KEEP	25	24	-1	62	94	25	24	-1	117.799683	62	94	0.248677	1	0	0	0	0	1	0	0	0	--	--		0	A			BOC_uc003dzy.2_Missense_Mutation_p.R533H|BOC_uc003dzz.2_Missense_Mutation_p.R534H|BOC_uc003eab.2_Missense_Mutation_p.R234H|BOC_uc003eac.2_5'Flank	278	GBM-76-6282-TP	p.R533H	G	AACCAGCACCGCCTGACCCTC	NM_033254	NP_150279	112997000	Q9BWV1	BOC_HUMAN	0	Epithelial(53;0.227)		10	2219	+	A	A			Missense_Mutation	533			Fibronectin type-III 1.|Extracellular (Potential).			
BOD1L1	259282	broad.mit.edu	GRCh37	4	13606401	13606401	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0124-01	TCGA-06-0124-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000040738.5:c.2123C>G	p.Ser708Cys	p.S708C	ENST00000040738	NM_148894.2	708	tCt/tGt	0			1			C	S/C	uc003gmz.1	protein_coding	YES	CCDS3411.2			2123/9156									ovary(5)|breast(1)	6	c.(2122-2124)TCT>TGT			hmmpanther:PTHR31532,hmmpanther:PTHR31532:SF3	biorientation of chromosomes in cell division				ENSP00000040738		26-Oct									COSM3409063	26-Oct	.		ENST00000040738	Transcript					DNA binding	ENSG00000038219	g.chr4:13606401G>C	31792			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=BOD1L_HUMAN&rb=610&re=809&var=S708C	NA	getma.org/?cm=var&var=hg19,4,13606401,G,C&fts=all	S708C	--	--	1																																		BOD1L_uc010idr.1_Missense_Mutation_p.S45C	1	1		benign(0.048)	p.S708C	NM_148894	NP_683692			1	BD1L1_HUMAN	BOD1L1	HGNC	Q8NFC6	BOD1L_HUMAN					10	2240	-			UPI000066D9E3	708			Lys-rich.		SNV	BOD1L1,missense_variant,p.Ser708Cys,ENST00000040738,NM_148894.2;	uc003gmz.1	c.2123C>G	2259/10565	4	4			c.2123C>G						4	SNP	c.(2122-2124)TCT>TGT	45	45			ovary(5)|breast(1)	6	Broad	biorientation of chromosomes in cell division			13606401		0.398	ENSG00000038219	1450	g.chr4:13606401G>C			DNA binding							-75.729651	KEEP	4	2	-1	224	97	4	2	-1	8.828185	224	97	0.015723	1	0	0	0	0	1	0	0	0	--	--		0	C			BOD1L_uc010idr.1_Missense_Mutation_p.S45C	11	GBM-06-0124-TP	p.S708C	G	TGGTGTTTCAGAATCATCTTT	NM_148894	NP_683692	13606401	Q8NFC6	BOD1L_HUMAN	0			10	2240	-	C	C			Missense_Mutation	708			Lys-rich.			
BOD1L1	0	broad.mit.edu	GRCh37	4	13603360	13603360	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6700-01	TCGA-06-6700-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000040738.5:c.5164G>A	p.Glu1722Lys	p.E1722K	ENST00000040738	NM_148894.2	1722	Gaa/Aaa	0			1			T	E/K	uc003gmz.1	protein_coding	YES	CCDS3411.2			5164/9156									ovary(5)|breast(1)	6	c.(5164-5166)GAA>AAA			hmmpanther:PTHR31532,hmmpanther:PTHR31532:SF3	biorientation of chromosomes in cell division				ENSP00000040738		26-Oct									COSM3409061	26-Oct	.		ENST00000040738	Transcript					DNA binding	ENSG00000038219	g.chr4:13603360C>T	31792			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=BOD1L_HUMAN&rb=1610&re=1809&var=E1722K	NA	getma.org/?cm=var&var=hg19,4,13603360,C,T&fts=all	E1722K	--	--	1																																		BOD1L_uc010idr.1_Missense_Mutation_p.E1059K	1	1		probably_damaging(0.998)	p.E1722K	NM_148894	NP_683692			1	BD1L1_HUMAN	BOD1L1	HGNC	Q8NFC6	BOD1L_HUMAN					10	5281	-			UPI000066D9E3	1722					SNV	BOD1L1,missense_variant,p.Glu1722Lys,ENST00000040738,NM_148894.2;	uc003gmz.1	c.5164G>A	5300/10565	2	2			c.5164G>A						4	SNP	c.(5164-5166)GAA>AAA	29	29			ovary(5)|breast(1)	6	Broad	biorientation of chromosomes in cell division			13603360		0.493	ENSG00000038219	1450	g.chr4:13603360C>T			DNA binding							62.879839	KEEP	17	13	-1	77	52	17	13	-1	76.677206	77	52	0.189542	1	0	0	0	0	1	0	0	0	--	--		0	T			BOD1L_uc010idr.1_Missense_Mutation_p.E1059K	114	GBM-06-6700-TP	p.E1722K	C	CCCTCTGTTTCTTTTTTGGGA	NM_148894	NP_683692	13603360	Q8NFC6	BOD1L_HUMAN	0			10	5281	-	T	T			Missense_Mutation	1722						
BOD1L1	0	broad.mit.edu	GRCh37	4	13583896	13583896	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01	TCGA-14-3476-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000040738.5:c.8557G>A	p.Glu2853Lys	p.E2853K	ENST00000040738	NM_148894.2	2853	Gag/Aag	0			1			T	E/K	uc003gmz.1	protein_coding	YES	CCDS3411.2			8557/9156									ovary(5)|breast(1)	6	c.(8557-8559)GAG>AAG			hmmpanther:PTHR31532,hmmpanther:PTHR31532:SF3	biorientation of chromosomes in cell division				ENSP00000040738		19/26									COSM3409060	19/26	.		ENST00000040738	Transcript					DNA binding	ENSG00000038219	g.chr4:13583896C>T	31792			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=BOD1L_HUMAN&rb=2810&re=2884&var=E2853K	NA	getma.org/?cm=var&var=hg19,4,13583896,C,T&fts=all	E2853K	--	--	1																																			1	1		possibly_damaging(0.866)	p.E2853K	NM_148894	NP_683692			1	BD1L1_HUMAN	BOD1L1	HGNC	Q8NFC6	BOD1L_HUMAN					19	8674	-			UPI000066D9E3	2853					SNV	BOD1L1,missense_variant,p.Glu2853Lys,ENST00000040738,NM_148894.2;BOD1L1,upstream_gene_variant,,ENST00000507943,;BOD1L1,non_coding_transcript_exon_variant,,ENST00000511119,;BOD1L1,upstream_gene_variant,,ENST00000505343,;BOD1L1,upstream_gene_variant,,ENST00000509897,;	uc003gmz.1	c.8557G>A	8693/10565	2	2			c.8557G>A						4	SNP	c.(8557-8559)GAG>AAG	48	48			ovary(5)|breast(1)	6	Broad	biorientation of chromosomes in cell division			13583896		0.383	ENSG00000038219	1450	g.chr4:13583896C>T			DNA binding							56.400257	KEEP	9	16	-1	34	59	9	16	-1	62.119177	34	59	0.23913	1	0	0	0	0	1	0	0	0	--	--		0	T				151	GBM-14-3476-TP	p.E2853K	C	TCGTTCTGCTCTGGCTTTTCA	NM_148894	NP_683692	13583896	Q8NFC6	BOD1L_HUMAN	0			19	8674	-	T	T			Missense_Mutation	2853						
BOD1L1	0	broad.mit.edu	GRCh37	4	13603517	13603517	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-28-5207-01	TCGA-28-5207-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000040738.5:c.5007A>C	p.Arg1669Ser	p.R1669S	ENST00000040738	NM_148894.2	1669	agA/agC	0			1			G	R/S	uc003gmz.1	protein_coding	YES	CCDS3411.2			5007/9156									ovary(5)|breast(1)	6	c.(5005-5007)AGA>AGC			hmmpanther:PTHR31532,hmmpanther:PTHR31532:SF3	biorientation of chromosomes in cell division				ENSP00000040738		26-Oct									COSM2157342	26-Oct	.		ENST00000040738	Transcript					DNA binding	ENSG00000038219	g.chr4:13603517T>G	31792			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=BOD1L_HUMAN&rb=1610&re=1809&var=R1669S	NA	getma.org/?cm=var&var=hg19,4,13603517,T,G&fts=all	R1669S	--	--	1																																		BOD1L_uc010idr.1_Missense_Mutation_p.R1006S	1	1		benign(0.09)	p.R1669S	NM_148894	NP_683692			1	BD1L1_HUMAN	BOD1L1	HGNC	Q8NFC6	BOD1L_HUMAN					10	5124	-			UPI000066D9E3	1669					SNV	BOD1L1,missense_variant,p.Arg1669Ser,ENST00000040738,NM_148894.2;	uc003gmz.1	c.5007A>C	5143/10565	4	4			c.5007A>C						4	SNP	c.(5005-5007)AGA>AGC	18	18			ovary(5)|breast(1)	6	Broad	biorientation of chromosomes in cell division			13603517		0.373	ENSG00000038219	1450	g.chr4:13603517T>G			DNA binding							517.97545	KEEP	84	89	-1	152	151	84	89	-1	525.044148	152	151	0.366071	1	0	0	0	0	1	0	0	0	--	--		0	G			BOD1L_uc010idr.1_Missense_Mutation_p.R1006S	216	GBM-28-5207-TP	p.R1669S	T	TTTCTGAGTCTCTACTTAAAG	NM_148894	NP_683692	13603517	Q8NFC6	BOD1L_HUMAN	0			10	5124	-	G	G			Missense_Mutation	1669						
BOD1L1	0	broad.mit.edu	GRCh37	4	13605551	13605551	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-32-2615-01	TCGA-32-2615-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000040738.5:c.2973A>G	p.Arg991=	p.R991=	ENST00000040738	NM_148894.2	991	agA/agG	0			1			C	R	uc003gmz.1	protein_coding	YES	CCDS3411.2			2973/9156									ovary(5)|breast(1)	6	c.(2971-2973)AGA>AGG			hmmpanther:PTHR31532,hmmpanther:PTHR31532:SF3	biorientation of chromosomes in cell division				ENSP00000040738		26-Oct									COSM3409062	26-Oct	.		ENST00000040738	Transcript					DNA binding	ENSG00000038219	g.chr4:13605551T>C	31792			LOW								--	--	1																																		BOD1L_uc010idr.1_Silent_p.R328R	1	1			p.R991R	NM_148894	NP_683692			1	BD1L1_HUMAN	BOD1L1	HGNC	Q8NFC6	BOD1L_HUMAN					10	3090	-			UPI000066D9E3	991			Lys-rich.		SNV	BOD1L1,synonymous_variant,p.=,ENST00000040738,NM_148894.2;	uc003gmz.1	c.2973A>G	3109/10565	3	3			c.2973A>G						4	SNP	c.(2971-2973)AGA>AGG	7	7			ovary(5)|breast(1)	6	Broad	biorientation of chromosomes in cell division			13605551		0.403	ENSG00000038219	1450	g.chr4:13605551T>C			DNA binding							745.454159	KEEP	125	91	-1	154	115	125	91	-1	746.491905	154	115	0.449244	1	0	0	0	0	0	0	1	0	--	--		0	C			BOD1L_uc010idr.1_Silent_p.R328R	239	GBM-32-2615-TP	p.R991R	T	GTAACTTGGCTCTATGACTAG	NM_148894	NP_683692	13605551	Q8NFC6	BOD1L_HUMAN	0			10	3090	-	C	C			Silent	991			Lys-rich.			
BOK	0	broad.mit.edu	GRCh37	2	242509549	242509549	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-32-4208-01	TCGA-32-4208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318407.3:c.362delG	p.Gly121AlafsTer18	p.G121Afs*18	ENST00000318407	NM_032515.4	120	tGg/tg	0			1			-	W/X	uc002wbq.2	protein_coding	YES	CCDS2550.1			359/639									ovary(1)	1	c.(358-360)TGGfs			Gene3D:1.10.437.10,Pfam_domain:PF00452,Prints_domain:PR01862,PROSITE_profiles:PS50062,hmmpanther:PTHR11256,hmmpanther:PTHR11256:SF39,SMART_domains:SM00337,Superfamily_domains:SSF56854	BCL2-related ovarian killer				ENSP00000314132		5-Apr										5-Apr	.		ENST00000318407	Transcript			activation of caspase activity|cell proliferation|signal transduction by p53 class mediator resulting in induction of apoptosis	mitochondrial membrane|nucleus		ENSG00000176720	g.chr2:242509549delG	1087	3		HIGH								--	--	1																																		BOK_uc002wbr.2_5'Flank		1			p.W120fs	NM_032515	NP_115904				BOK_HUMAN	BOK	HGNC	Q9UMX3	BOK_HUMAN		Epithelial(32;2.04e-33)|all cancers(36;7.87e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.52e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.64e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0835)	Q53QM7_HUMAN,Q53NU8_HUMAN		4	605	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	UPI000006F188	120			BH1.		deletion	BOK,frameshift_variant,p.Gly121AlafsTer18,ENST00000318407,NM_032515.4;	uc002wbq.2	c.359delG	661/2650	5	5			c.359delG						2	DEL	c.(358-360)TGGfs	50	50			ovary(1)	1	Broad	BCL2-related ovarian killer			242509549		0.657	ENSG00000176720	1451	g.chr2:242509549delG	activation of caspase activity|cell proliferation|signal transduction by p53 class mediator resulting in induction of apoptosis	mitochondrial membrane|nucleus				246			246														0.22	1	1	0	1	0	0	0	0	0	--	--		0	-			BOK_uc002wbr.2_5'Flank	243	GBM-32-4208-TP	p.W120fs	G	GGCATCACGTGGGGCAAGGTG	NM_032515	NP_115904	242509549	Q9UMX3	BOK_HUMAN	0		Epithelial(32;2.04e-33)|all cancers(36;7.87e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.52e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.64e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0835)	4	605	+	-	-		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	Frame_Shift_Del	120			BH1.			
BOLL	66037		GRCh37	2	198643759	198643759	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000321801.7:c.197C>T	p.Ser66Phe	p.S66F	ENST00000321801	NM_197970.2	66	tCc/tTc	0																																																																																																																																																																																																																																												
BORA	0	broad.mit.edu	GRCh37	13	73321201	73321201	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-76-6193-01	TCGA-76-6193-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000390667.5:c.1434A>G	p.Ser478=	p.S478=	ENST00000390667	NM_024808.2	478	tcA/tcG	0			1			G	S	uc001viv.1	protein_coding	YES	CCDS9446.1			1434/1680										0	c.(1432-1434)TCA>TCG			hmmpanther:PTHR14728:SF1,hmmpanther:PTHR14728	aurora borealis				ENSP00000375082		12-Oct									COSM3399441	12-Oct	.		ENST00000390667	Transcript			cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding	ENSG00000136122	g.chr13:73321201A>G	24724			LOW								--	--	1																																		C13orf34_uc010thq.1_Silent_p.S253S|C13orf34_uc010aen.1_Silent_p.S553S|C13orf34_uc010thr.1_Silent_p.S408S|C13orf34_uc001viw.1_Silent_p.S427S	1	1			p.S478S	NM_024808	NP_079084			1	BORA_HUMAN	BORA	HGNC	Q6PGQ7	BORA_HUMAN		GBM - Glioblastoma multiforme(99;0.000227)	B5LMG6_HUMAN		10	1553	+		Breast(118;0.0735)	UPI0000224003	478					SNV	BORA,synonymous_variant,p.=,ENST00000390667,NM_024808.2,NM_001286746.1;BORA,synonymous_variant,p.=,ENST00000377815,NM_001286747.1;BORA,downstream_gene_variant,,ENST00000377814,;BORA,downstream_gene_variant,,ENST00000464754,;BORA,downstream_gene_variant,,ENST00000471712,;	uc001viv.1	c.1434A>G	1531/2759	3	3			c.1434A>G						13	SNP	c.(1432-1434)TCA>TCG	14	14				0	Broad	aurora borealis			73321201		0.413	ENSG00000136122	1691	g.chr13:73321201A>G	cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding							180.536082	KEEP	37	37	-1	80	86	37	37	-1	188.129928	80	86	0.302752	1	0	0	0	0	0	0	1	0	--	--		0	G			C13orf34_uc010thq.1_Silent_p.S253S|C13orf34_uc010aen.1_Silent_p.S553S|C13orf34_uc010thr.1_Silent_p.S408S|C13orf34_uc001viw.1_Silent_p.S427S	276	GBM-76-6193-TP	p.S478S	A	TGTGCATGTCACCTCTTGCTG	NM_024808	NP_079084	73321201	Q6PGQ7	BORA_HUMAN	0		GBM - Glioblastoma multiforme(99;0.000227)	10	1553	+	G	G		Breast(118;0.0735)	Silent	478						
BPI	671	broad.mit.edu	GRCh37	20	36932646	36932646	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5415-01	TCGA-06-5415-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262865.4:c.33C>T	p.Asn11=	p.N11=	ENST00000262865	NM_001725.2	11	aaC/aaT	0		T:0.0008	1	T:0		T	N	uc002xib.2	protein_coding	YES	CCDS13303.1			33/1464									ovary(4)	4	c.(31-33)AAC>AAT			Cleavage_site_(Signalp):SignalP-TM	bactericidal/permeability-increasing protein		T:0		ENSP00000262865	T:0	15-Jan	0.000115	9.93E-05	0.000173			0.000137	0.00111	6.06E-05	rs532589861,COSM1158440	15-Jan	.		ENST00000262865	Transcript		T:0.0002	defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	ENSG00000101425	g.chr20:36932646C>T	1095			LOW								--	--	1																																			0,1	1			p.N11N	NM_001725	NP_001716	T:0		0,1	BPI_HUMAN	BPI	HGNC	P17213	BPI_HUMAN			B4DKH6_HUMAN		1	95	+		Myeloproliferative disorder(115;0.00878)	UPI000013D349	11					SNV	BPI,synonymous_variant,p.=,ENST00000262865,NM_001725.2;BPI,synonymous_variant,p.=,ENST00000418004,;CTD-2308N23.2,intron_variant,,ENST00000437016,;	uc002xib.2	c.33C>T	122/1874	2	2			c.33C>T						20	SNP	c.(31-33)AAC>AAT	26	26			ovary(4)	4	Broad	bactericidal/permeability-increasing protein			36932646		0.627	ENSG00000101425	1457	g.chr20:36932646C>T	defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding							-44.072241	KEEP	4	2	-1	108	122	4	2	-1	9.849259	108	122	0.027397	1	0	0	0	0	0	0	1	0	--	--		0	T				98	GBM-06-5415-TP	p.N11N	C	GCCCTTGCAACGCGCCGAGAT	NM_001725	NP_001716	36932646	P17213	BPI_HUMAN	0			1	95	+	T	T		Myeloproliferative disorder(115;0.00878)	Silent	11						
BPI	0	broad.mit.edu	GRCh37	20	36932754	36932754	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T			TCGA-16-1045-01	TCGA-16-1045-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262865.4:c.141C>T	p.Tyr47=	p.Y47=	ENST00000262865	NM_001725.2	47	taC/taT	0	T:0.0005		1			T	Y	uc002xib.2	protein_coding	YES	CCDS13303.1			141/1464									ovary(4)	4	c.(139-141)TAC>TAT			hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF66,PROSITE_patterns:PS00400,Gene3D:1ewfA01,Pfam_domain:PF01273,SMART_domains:SM00328,Superfamily_domains:SSF55394	bactericidal/permeability-increasing protein			T:0.0002	ENSP00000262865		15-Jan	3.29E-05	9.86E-05				3.06E-05		6.07E-05	rs369155604,COSM3405067	15-Jan	.		ENST00000262865	Transcript			defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	ENSG00000101425	g.chr20:36932754C>T	1095			LOW								--	--	1																																			0,1	1			p.Y47Y	NM_001725	NP_001716			0,1	BPI_HUMAN	BPI	HGNC	P17213	BPI_HUMAN			B4DKH6_HUMAN		1	203	+		Myeloproliferative disorder(115;0.00878)	UPI000013D349	47					SNV	BPI,splice_region_variant,p.=,ENST00000262865,NM_001725.2;BPI,downstream_gene_variant,,ENST00000418004,;CTD-2308N23.2,intron_variant,,ENST00000437016,;	uc002xib.2	c.141C>T	230/1874	1	1			c.141C>T						20	SNP	c.(139-141)TAC>TAT	15	15			ovary(4)	4	Broad	bactericidal/permeability-increasing protein			36932754		0.458	ENSG00000101425	1457	g.chr20:36932754C>T	defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding							-18.595945	KEEP	4	1	-1	57	64	4	1	-1	8.188449	57	64	0.035088	1	0	0	0	0	0	0	1	0	--	--		0	T				157	GBM-16-1045-TP	p.Y47Y	C	GCCTGGACTACGGTAACTGGA	NM_001725	NP_001716	36932754	P17213	BPI_HUMAN	0			1	203	+	T	T		Myeloproliferative disorder(115;0.00878)	Silent	47						
BPI	671		GRCh37	20	36964027	36964027	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000262865.4:c.1376C>T	p.Pro459Leu	p.P459L	ENST00000262865	NM_001725.2	459	cCg/cTg	0																																																																																																																																																																																																																																												
BPIFA1	0	broad.mit.edu	GRCh37	20	31829275	31829275	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T			TCGA-06-6695-01	TCGA-06-6695-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354297.4:c.666C>T	p.Asn222=	p.N222=	ENST00000354297	NM_130852.2	222	aaC/aaT	0			1			T	N	uc002wyv.2	protein_coding	YES	CCDS13217.1			666/771										0	c.(664-666)AAC>AAT			Pfam_domain:PF01273,hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF70,Superfamily_domains:SSF55394	palate, lung and nasal epithelium associated				ENSP00000346251		9-Jun	5.77E-05		0.000173			5.99E-05		6.06E-05	rs773494093,COSM1158796	9-Jun	.		ENST00000354297	Transcript			innate immune response	extracellular region	lipid binding	ENSG00000198183	g.chr20:31829275C>T	15749			LOW								--	--	1																																		PLUNC_uc002wyt.3_Silent_p.N222N|PLUNC_uc002wyu.3_Silent_p.N222N	0,1	1			p.N222N	NM_130852	NP_570913			0,1	BPIA1_HUMAN	BPIFA1	HGNC	Q9NP55	PLUNC_HUMAN			A6XMV5_HUMAN		6	736	+			UPI0000048F11	222					SNV	BPIFA1,splice_region_variant,p.=,ENST00000354297,NM_130852.2;BPIFA1,splice_region_variant,p.=,ENST00000375422,NM_001243193.1;BPIFA1,splice_region_variant,p.=,ENST00000375413,NM_016583.3;	uc002wyv.2	c.666C>T	737/1079	2	2			c.666C>T						20	SNP	c.(664-666)AAC>AAT	32	32				0	Broad	palate, lung and nasal epithelium associated			31829275		0.502	ENSG00000198183	11917	g.chr20:31829275C>T	innate immune response	extracellular region	lipid binding							17.480841	KEEP	16	13	-1	110	135	16	13	-1	55.229659	110	135	0.106122	1	0	0	0	0	0	0	1	0	--	--		0	T			PLUNC_uc002wyt.3_Silent_p.N222N|PLUNC_uc002wyu.3_Silent_p.N222N	110	GBM-06-6695-TP	p.N222N	C	TTCAGGGCAACGTAAGTAGGC	NM_130852	NP_570913	31829275	Q9NP55	PLUNC_HUMAN	0			6	736	+	T	T			Silent	222						
BPIFA3	128861	broad.mit.edu	GRCh37	20	31814297	31814297	+	splice_donor_variant	Splice_Site	SNP	G	G	T			TCGA-06-0644-01	TCGA-06-0644-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375454.3:c.621+1G>T		p.X207_splice	ENST00000375454	NM_178466.3	207		0			1			T		uc002wyr.2	protein_coding	YES	CCDS13216.2			621/765									ovary(1)|skin(1)	2	c.e5+1				short long palate, lung and nasal epithelium				ENSP00000364603											COSM2151234		.		ENST00000375454	Transcript				extracellular region	lipid binding	ENSG00000131059	g.chr20:31814297G>T	16204			HIGH	6-May							--	--	1																																		C20orf71_uc002wys.2_Splice_Site_p.Q171_splice	1	1			p.Q207_splice	NM_178466	NP_848561			1	BPIA3_HUMAN	BPIFA3	HGNC	Q9BQP9	SPLC3_HUMAN					5	829	+			UPI00003E72D6						SNV	BPIFA3,splice_donor_variant,,ENST00000375454,NM_178466.3;BPIFA3,splice_donor_variant,,ENST00000375452,NM_001042439.1;BPIFA3,splice_donor_variant,,ENST00000490499,;BPIFA3,splice_donor_variant,,ENST00000471233,;	uc002wyr.2	c.621_splice	-/1116	5	2			c.621_splice						20	SNP	c.e5+1	30	30			ovary(1)|skin(1)	2	Broad	short long palate, lung and nasal epithelium			31814297		0.348	ENSG00000131059	2073	g.chr20:31814297G>T		extracellular region	lipid binding							80.05217	KEEP	12	19	0.387096774	43	40	12	19	0.387096774	84.887505	43	40	0.271845	1	0	0	0	0	0	0	0	1	--	--		0	T			C20orf71_uc002wys.2_Splice_Site_p.Q171_splice	58	GBM-06-0644-TP	p.Q207_splice	G	AGAAAGTCAGGTAAGTTTAGA	NM_178466	NP_848561	31814297	Q9BQP9	SPLC3_HUMAN	0			5	829	+	T	T			Splice_Site							
BPIFA3	0	broad.mit.edu	GRCh37	20	31811632	31811632	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-6391-01	TCGA-06-6391-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375454.3:c.143T>C	p.Leu48Pro	p.L48P	ENST00000375454	NM_178466.3	48	cTc/cCc	0			1			C	L/P	uc002wyr.2	protein_coding	YES	CCDS13216.2			143/765									ovary(1)|skin(1)	2	c.(142-144)CTC>CCC			hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF3	short long palate, lung and nasal epithelium				ENSP00000364603		7-Feb										7-Feb	.		ENST00000375454	Transcript				extracellular region	lipid binding	ENSG00000131059	g.chr20:31811632T>C	16204			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=BPIA3_HUMAN&rb=1&re=200&var=L48P	NA	getma.org/?cm=var&var=hg19,20,31811632,T,C&fts=all	L48P	--	--	1																																		C20orf71_uc002wys.2_Missense_Mutation_p.L48P		1		probably_damaging(0.999)	p.L48P	NM_178466	NP_848561		deleterious(0)		BPIA3_HUMAN	BPIFA3	HGNC	Q9BQP9	SPLC3_HUMAN					2	351	+			UPI00003E72D6	48					SNV	BPIFA3,missense_variant,p.Leu48Pro,ENST00000375454,NM_178466.3;BPIFA3,missense_variant,p.Leu48Pro,ENST00000375452,NM_001042439.1;BPIFA3,non_coding_transcript_exon_variant,,ENST00000490499,;BPIFA3,non_coding_transcript_exon_variant,,ENST00000471233,;	uc002wyr.2	c.143T>C	353/1116	4	4			c.143T>C						20	SNP	c.(142-144)CTC>CCC	35	35			ovary(1)|skin(1)	2	Broad	short long palate, lung and nasal epithelium			31811632		0.373	ENSG00000131059	2073	g.chr20:31811632T>C		extracellular region	lipid binding							-8.638827	KEEP	1	2	-1	40	38	1	2	-1	7.335763	40	38	0.042254	1	0	0	0	0	1	0	0	0	--	--		0	C			C20orf71_uc002wys.2_Missense_Mutation_p.L48P	107	GBM-06-6391-TP	p.L48P	T	GCTCAGGGCCTCATAAAGCAC	NM_178466	NP_848561	31811632	Q9BQP9	SPLC3_HUMAN	0			2	351	+	C	C			Missense_Mutation	48						
BPIFB1	0	broad.mit.edu	GRCh37	20	31878893	31878893	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149436006	byFrequency	TCGA-74-6573-01	TCGA-74-6573-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000253354.1:c.496C>T	p.Arg166Cys	p.R166C	ENST00000253354	NM_033197.2	166	Cgc/Tgc	0			1			T	R/C	uc002wyw.1	protein_coding	YES	CCDS13218.1			496/1455									central_nervous_system(2)|skin(2)	4	c.(496-498)CGC>TGC			hmmpanther:PTHR10504:SF21,hmmpanther:PTHR10504,Pfam_domain:PF01273,Gene3D:1ewfA01,SMART_domains:SM00328,PIRSF_domain:PIRSF037186,Superfamily_domains:SSF55394	LPLUNC1 protein precursor				ENSP00000253354		16-May									COSM1025900	16-May	.		ENST00000253354	Transcript				extracellular space	lipid binding	ENSG00000125999	g.chr20:31878893C>T	16108			MODERATE		2.3	medium	getma.org/?cm=msa&ty=f&p=BPIB1_HUMAN&rb=1&re=200&var=R166C	NA	getma.org/?cm=var&var=hg19,20,31878893,C,T&fts=all	R166C	--	--	1																																		C20orf114_uc010gej.1_Missense_Mutation_p.R166C	1	1		probably_damaging(0.976)	p.R166C	NM_033197	NP_149974		deleterious(0)	1	BPIB1_HUMAN	BPIFB1	HGNC	Q8TDL5	LPLC1_HUMAN			A2A2R0_HUMAN		5	657	+			UPI000006EEF9	166					SNV	BPIFB1,missense_variant,p.Arg166Cys,ENST00000253354,NM_033197.2;BPIFB1,downstream_gene_variant,,ENST00000423645,;	uc002wyw.1	c.496C>T	657/1727	2	2			c.496C>T						20	SNP	c.(496-498)CGC>TGC	29	29			central_nervous_system(2)|skin(2)	4	Broad	LPLUNC1 protein precursor			31878893		0.507	ENSG00000125999	2039	g.chr20:31878893C>T		extracellular space	lipid binding							1.80405	KEEP	0	4	-1	16	17	0	4	-1	6.853137	16	17	0.096774	1	0	0	0	0	1	0	0	0	--	--		0	T			C20orf114_uc010gej.1_Missense_Mutation_p.R166C	260	GBM-74-6573-TP	p.R166C	C	TGGGAGCCTGCGCATCCAACT	NM_033197	NP_149974	31878893	Q8TDL5	LPLC1_HUMAN	0			5	657	+	T	T			Missense_Mutation	166						
BPIFB2	80341	broad.mit.edu	GRCh37	20	31606072	31606072	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-02-2470-01	TCGA-02-2470-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000170150.3:c.585C>G	p.Asn195Lys	p.N195K	ENST00000170150	NM_025227.2	195	aaC/aaG	0			1			G	N/K	uc002wyj.2	protein_coding	YES	CCDS13210.1			585/1377									skin(2)|large_intestine(1)|ovary(1)	4	c.(583-585)AAC>AAG			Gene3D:1ewfA02,hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF68,Superfamily_domains:SSF55394	bactericidal/permeability-increasing				ENSP00000170150		16-Aug									COSM2149085	16-Aug	.		ENST00000170150	Transcript				extracellular region	lipid binding	ENSG00000078898	g.chr20:31606072C>G	16177			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=BPIB2_HUMAN&rb=1&re=200&var=N195K	NA	getma.org/?cm=var&var=hg19,20,31606072,C,G&fts=all	N195K	--	--	1																																			1	1		benign(0.003)	p.N195K	NM_025227	NP_079503		tolerated(0.64)	1	BPIB2_HUMAN	BPIFB2	HGNC	Q8N4F0	BPIL1_HUMAN					8	779	+			UPI00000377B0	195					SNV	BPIFB2,missense_variant,p.Asn195Lys,ENST00000170150,NM_025227.2;	uc002wyj.2	c.585C>G	780/1898	3	3			c.585C>G						20	SNP	c.(583-585)AAC>AAG	64	64			skin(2)|large_intestine(1)|ovary(1)	4	Broad	bactericidal/permeability-increasing			31606072		0.473	ENSG00000078898	1458	g.chr20:31606072C>G		extracellular region	lipid binding							69.065013	KEEP	13	13	-1	54	51	13	13	-1	78.68469	54	51	0.2	1	0	0	0	0	1	0	0	0	--	--		0	G				5	GBM-02-2470-TP	p.N195K	C	AAGGCCTCAACCCCGTGGGTC	NM_025227	NP_079503	31606072	Q8N4F0	BPIL1_HUMAN	0			8	779	+	G	G			Missense_Mutation	195						
BPIFB2	80341	broad.mit.edu	GRCh37	20	31606076	31606076	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs147688509	byFrequency;by1000genomes	TCGA-06-0209-01	TCGA-06-0209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000170150.3:c.589G>A	p.Val197Met	p.V197M	ENST00000170150	NM_025227.2	197	Gtg/Atg	0	A:0.0066	A:0.0053	1	A:0		A	V/M	uc002wyj.2	protein_coding	YES	CCDS13210.1			589/1377									skin(2)|large_intestine(1)|ovary(1)	4	c.(589-591)GTG>ATG			Gene3D:1ewfA02,hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF68,Superfamily_domains:SSF55394	bactericidal/permeability-increasing		A:0.001	A:0.0003	ENSP00000170150	A:0	16-Aug	0.000667	0.00685	0.000173	0.000348		7.52E-05			rs147688509,COSM3405023	16-Aug	common_variant		ENST00000170150	Transcript		A:0.0016		extracellular region	lipid binding	ENSG00000078898	g.chr20:31606076G>A	16177			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=BPIB2_HUMAN&rb=1&re=200&var=V197M	NA	getma.org/?cm=var&var=hg19,20,31606076,G,A&fts=all	V197M	--	--	1																																			0,1	1		probably_damaging(0.982)	p.V197M	NM_025227	NP_079503	A:0	deleterious(0)	0,1	BPIB2_HUMAN	BPIFB2	HGNC	Q8N4F0	BPIL1_HUMAN					8	783	+			UPI00000377B0	197					SNV	BPIFB2,missense_variant,p.Val197Met,ENST00000170150,NM_025227.2;	uc002wyj.2	c.589G>A	784/1898	1	1			c.589G>A						20	SNP	c.(589-591)GTG>ATG	64	64			skin(2)|large_intestine(1)|ovary(1)	4	Broad	bactericidal/permeability-increasing			31606076		0.483	ENSG00000078898	1458	g.chr20:31606076G>A		extracellular region	lipid binding							98.813888	KEEP	32	11	-1	64	55	32	11	-1	106.011941	64	55	0.262411	1	0	0	0	0	1	0	0	0	--	--		0	A				46	GBM-06-0209-TP	p.V197M	G	CCTCAACCCCGTGGGTCCTGA	NM_025227	NP_079503	31606076	Q8N4F0	BPIL1_HUMAN	0			8	783	+	A	A			Missense_Mutation	197						
BPIFB2	0	broad.mit.edu	GRCh37	20	31596448	31596448	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01	TCGA-76-6285-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000170150.3:c.68C>T	p.Pro23Leu	p.P23L	ENST00000170150	NM_025227.2	23	cCa/cTa	0			1			T	P/L	uc002wyj.2	protein_coding	YES	CCDS13210.1			68/1377									skin(2)|large_intestine(1)|ovary(1)	4	c.(67-69)CCA>CTA			hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF68,Superfamily_domains:SSF55394,Transmembrane_helices:TMhelix	bactericidal/permeability-increasing				ENSP00000170150		16-Feb									COSM3405022	16-Feb	.		ENST00000170150	Transcript				extracellular region	lipid binding	ENSG00000078898	g.chr20:31596448C>T	16177			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=BPIB2_HUMAN&rb=1&re=200&var=P23L	getma.org/pdb.php?prot=BPIB2_HUMAN&from=1&to=200&var=P23L	getma.org/?cm=var&var=hg19,20,31596448,C,T&fts=all	P23L	--	--	1																																			1	1		benign(0.097)	p.P23L	NM_025227	NP_079503		deleterious(0.02)	1	BPIB2_HUMAN	BPIFB2	HGNC	Q8N4F0	BPIL1_HUMAN					2	262	+			UPI00000377B0	23					SNV	BPIFB2,missense_variant,p.Pro23Leu,ENST00000170150,NM_025227.2;SUN5,upstream_gene_variant,,ENST00000356173,NM_080675.3;SUN5,upstream_gene_variant,,ENST00000375523,;SUN5,upstream_gene_variant,,ENST00000420875,;SUN5,upstream_gene_variant,,ENST00000375519,;	uc002wyj.2	c.68C>T	263/1898	1	1			c.68C>T						20	SNP	c.(67-69)CCA>CTA	15	15			skin(2)|large_intestine(1)|ovary(1)	4	Broad	bactericidal/permeability-increasing			31596448		0.622	ENSG00000078898	1458	g.chr20:31596448C>T		extracellular region	lipid binding							9.791001	KEEP	2	3	-1	8	5	2	3	-1	10.530511	8	5	0.266667	1	0	0	0	0	1	0	0	0	--	--		0	T				280	GBM-76-6285-TP	p.P23L	C	GCCTCCACGCCAGGCACCGTG	NM_025227	NP_079503	31596448	Q8N4F0	BPIL1_HUMAN	0			2	262	+	T	T			Missense_Mutation	23						
BPIFB3	359710	broad.mit.edu	GRCh37	20	31656654	31656654	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0750-01	TCGA-06-0750-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375494.3:c.1024C>T	p.Arg342Trp	p.R342W	ENST00000375494	NM_182658.1	342	Cgg/Tgg	0			1			T	R/W	uc002wym.1	protein_coding	YES	CCDS13212.1			1024/1431									ovary(4)	4	c.(1024-1026)CGG>TGG			Gene3D:1ewfA02,Pfam_domain:PF02886,hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF42,SMART_domains:SM00329,Superfamily_domains:SSF55394	antimicrobial peptide RYA3 precursor				ENSP00000364643		15-Oct	4.12E-05	9.62E-05				6.00E-05			rs199722228,COSM2151971	15-Oct	.		ENST00000375494	Transcript			innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	ENSG00000186190	g.chr20:31656654C>T	16178			MODERATE		2.295	medium	getma.org/?cm=msa&ty=f&p=BPIB3_HUMAN&rb=201&re=400&var=R342W	NA	getma.org/?cm=var&var=hg19,20,31656654,C,T&fts=all	R342W	--	--	1																																			0,1	1		probably_damaging(0.984)	p.R342W	NM_182658	NP_872599		deleterious(0.02)	0,1	BPIB3_HUMAN	BPIFB3	HGNC	P59826	LPLC3_HUMAN					10	1024	+			UPI00001B2207	342					SNV	BPIFB3,missense_variant,p.Arg342Trp,ENST00000375494,NM_182658.1;	uc002wym.1	c.1024C>T	1024/1454	2	2			c.1024C>T						20	SNP	c.(1024-1026)CGG>TGG	30	30			ovary(4)	4	Broad	antimicrobial peptide RYA3 precursor			31656654		0.562	ENSG00000186190	2054	g.chr20:31656654C>T	innate immune response	cytoplasm|extracellular region	lipid binding|protein binding							80.951307	KEEP	18	17	-1	49	37	18	17	-1	84.527849	49	37	0.304762	1	0	0	0	0	1	0	0	0	--	--		0	T				70	GBM-06-0750-TP	p.R342W	C	ACTGTTCCTGCGGGTGAGGGA	NM_182658	NP_872599	31656654	P59826	LPLC3_HUMAN	0			10	1024	+	T	T			Missense_Mutation	342						
BPIFB6	0	broad.mit.edu	GRCh37	20	31630672	31630672	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000349552.1:c.1240C>A	p.Pro414Thr	p.P414T	ENST00000349552	NM_174897.2	414	Cca/Aca	0			1			A	P/T	uc010zuc.1	protein_coding	YES	CCDS13211.1			1240/1362									ovary(1)|pancreas(1)	2	c.(1240-1242)CCA>ACA			Gene3D:1ewfA02,Pfam_domain:PF02886,hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF71,SMART_domains:SM00329,Superfamily_domains:SSF55394	bactericidal/permeability-increasing				ENSP00000344929		13/15									COSM3405024	13/15	.		ENST00000349552	Transcript				extracellular region	lipid binding	ENSG00000167104	g.chr20:31630672C>A	16504			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=BPIB6_HUMAN&rb=401&re=453&var=P414T	NA	getma.org/?cm=var&var=hg19,20,31630672,C,A&fts=all	P414T	--	--	1																																		BPIL3_uc010zud.1_Missense_Mutation_p.P353T	1	1		probably_damaging(0.999)	p.P414T	NM_174897	NP_777557		deleterious(0)	1	BPIB6_HUMAN	BPIFB6	HGNC	Q8NFQ5	BPIL3_HUMAN					13	1240	+			UPI000003C8F3	414					SNV	BPIFB6,missense_variant,p.Pro414Thr,ENST00000349552,NM_174897.2;BPIFB6,3_prime_UTR_variant,,ENST00000542375,;HDHD1P3,downstream_gene_variant,,ENST00000445368,;	uc010zuc.1	c.1240C>A	1240/1362	1	1			c.1240C>A						20	SNP	c.(1240-1242)CCA>ACA	62	62			ovary(1)|pancreas(1)	2	Broad	bactericidal/permeability-increasing			31630672		0.473	ENSG00000167104	1460	g.chr20:31630672C>A		extracellular region	lipid binding							151.098905	KEEP	34	22	0.392857143	22	28	34	22	0.392857143	151.136394	22	28	0.521739	1	0	0	0	0	1	0	0	0	--	--		0	A			BPIL3_uc010zud.1_Missense_Mutation_p.P353T	159	GBM-19-1390-TP	p.P414T	C	AGCCTACATCCCAGTTGTCAA	NM_174897	NP_777557	31630672	Q8NFQ5	BPIL3_HUMAN	0			13	1240	+	A	A			Missense_Mutation	414						
BPIFC	254240	broad.mit.edu	GRCh37	22	32833790	32833790	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397452.1:c.704G>A	p.Ser235Asn	p.S235N	ENST00000397452		235	aGt/aAt	0			1			T	S/N	uc003amn.2	protein_coding		CCDS13906.1			704/1524									ovary(1)|skin(1)	2	c.(703-705)AGT>AAT			hmmpanther:PTHR10504:SF17,hmmpanther:PTHR10504,Gene3D:1ewfA02,SMART_domains:SM00328,Superfamily_domains:SSF55394	bactericidal/permeability-increasing				ENSP00000300399		15-Jul									COSM2151849	15-Jul	.		ENST00000300399	Transcript				extracellular region	lipopolysaccharide binding|phospholipid binding	ENSG00000184459	g.chr22:32833790C>T	16503			MODERATE		1.485	low	getma.org/?cm=msa&ty=f&p=BPIFC_HUMAN&rb=201&re=400&var=S235N	getma.org/pdb.php?prot=BPIFC_HUMAN&from=201&to=400&var=S235N	getma.org/?cm=var&var=hg19,22,32833790,C,T&fts=all	S235N	--	--	1																																		BPIL2_uc010gwo.2_Missense_Mutation_p.S49N|BPIL2_uc011amb.1_5'UTR	1			benign(0.002)	p.S235N	NM_174932	NP_777592		tolerated(0.36)	1	BPIFC_HUMAN	BPIFC	HGNC	Q8NFQ6	BPIL2_HUMAN			F5H3G0_HUMAN		7	704	-			UPI0000071B53	235					SNV	BPIFC,missense_variant,p.Ser235Asn,ENST00000397452,;BPIFC,missense_variant,p.Ser235Asn,ENST00000300399,NM_174932.2;BPIFC,missense_variant,p.Ser49Asn,ENST00000432451,;BPIFC,5_prime_UTR_variant,,ENST00000534972,;	uc003amn.2	c.704G>A	704/1980	1	1			c.704G>A						22	SNP	c.(703-705)AGT>AAT	5	5			ovary(1)|skin(1)	2	Broad	bactericidal/permeability-increasing			32833790		0.353	ENSG00000184459	1459	g.chr22:32833790C>T		extracellular region	lipopolysaccharide binding|phospholipid binding							77.166841	KEEP	10	15	-1	1	4	10	15	-1	80.145069	1	4	0.846154	1	0	0	0	0	1	0	0	0	--	--		0	T			BPIL2_uc010gwo.2_Missense_Mutation_p.S49N|BPIL2_uc011amb.1_5'UTR	68	GBM-06-0747-TP	p.S235N	C	TTCTGGAGAACTGATTAGGGA	NM_174932	NP_777592	32833790	Q8NFQ6	BPIL2_HUMAN	0			7	704	-	T	T			Missense_Mutation	235						
BPIFC	254240	broad.mit.edu	GRCh37	22	32829708	32829708	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01	TCGA-06-2564-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397452.1:c.976C>T	p.Arg326Trp	p.R326W	ENST00000397452		326	Cgg/Tgg	0	A:0		1			A	R/W	uc003amn.2	protein_coding		CCDS13906.1			976/1524									ovary(1)|skin(1)	2	c.(976-978)CGG>TGG			hmmpanther:PTHR10504:SF17,hmmpanther:PTHR10504,Pfam_domain:PF02886,Gene3D:1ewfA02,SMART_domains:SM00329,Superfamily_domains:SSF55394	bactericidal/permeability-increasing			A:0.0001	ENSP00000300399		15-Sep	2.47E-05					4.51E-05			rs371535232,COSM288798	15-Sep	.		ENST00000300399	Transcript				extracellular region	lipopolysaccharide binding|phospholipid binding	ENSG00000184459	g.chr22:32829708G>A	16503			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=BPIFC_HUMAN&rb=201&re=400&var=R326W	getma.org/pdb.php?prot=BPIFC_HUMAN&from=201&to=400&var=R326W	getma.org/?cm=var&var=hg19,22,32829708,G,A&fts=all	R326W	--	--	1																																		BPIL2_uc010gwo.2_Missense_Mutation_p.R140W|BPIL2_uc011amb.1_Missense_Mutation_p.R50W	0,1			benign(0.016)	p.R326W	NM_174932	NP_777592		tolerated(0.09)	0,1	BPIFC_HUMAN	BPIFC	HGNC	Q8NFQ6	BPIL2_HUMAN			F5H3G0_HUMAN		9	976	-			UPI0000071B53	326					SNV	BPIFC,missense_variant,p.Arg326Trp,ENST00000397452,;BPIFC,missense_variant,p.Arg326Trp,ENST00000300399,NM_174932.2;BPIFC,missense_variant,p.Arg50Trp,ENST00000534972,;BPIFC,missense_variant,p.Arg140Trp,ENST00000432451,;	uc003amn.2	c.976C>T	976/1980	1	1			c.976C>T						22	SNP	c.(976-978)CGG>TGG	56	56			ovary(1)|skin(1)	2	Broad	bactericidal/permeability-increasing			32829708		0.418	ENSG00000184459	1459	g.chr22:32829708G>A		extracellular region	lipopolysaccharide binding|phospholipid binding							-3.512891	KEEP	3	1	-1	18	37	3	1	-1	6.878703	18	37	0.058824	1	0	0	0	0	1	0	0	0	--	--		0	A			BPIL2_uc010gwo.2_Missense_Mutation_p.R140W|BPIL2_uc011amb.1_Missense_Mutation_p.R50W	87	GBM-06-2564-TP	p.R326W	G	GCACTTACCCGGGAGAGCACG	NM_174932	NP_777592	32829708	Q8NFQ6	BPIL2_HUMAN	0			9	976	-	A	A			Missense_Mutation	326						
BPIFC	0	broad.mit.edu	GRCh37	22	32828360	32828360	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A			TCGA-28-2502-01	TCGA-28-2502-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300399.3:c.1149C>T	p.Phe383=	p.F383=	ENST00000300399	NM_174932.2	383	ttC/ttT	0			1			A	F	uc003amn.2	protein_coding		CCDS13906.1			1149/1524									ovary(1)|skin(1)	2	c.(1147-1149)TTC>TTT			hmmpanther:PTHR10504:SF17,hmmpanther:PTHR10504,Pfam_domain:PF02886,Gene3D:1ewfA02,SMART_domains:SM00329,Superfamily_domains:SSF55394	bactericidal/permeability-increasing				ENSP00000300399		15-Oct	2.47E-05			0.000231				6.11E-05	rs200868839,COSM1033628	15-Oct	.		ENST00000300399	Transcript				extracellular region	lipopolysaccharide binding|phospholipid binding	ENSG00000184459	g.chr22:32828360G>A	16503			LOW								--	--	1																																		BPIL2_uc010gwo.2_Intron|BPIL2_uc011amb.1_Silent_p.F107F	0,1				p.F383F	NM_174932	NP_777592			0,1	BPIFC_HUMAN	BPIFC	HGNC	Q8NFQ6	BPIL2_HUMAN			F5H3G0_HUMAN		10	1149	-			UPI0000071B53	383					SNV	BPIFC,splice_region_variant,p.=,ENST00000397452,;BPIFC,splice_region_variant,p.=,ENST00000300399,NM_174932.2;BPIFC,splice_region_variant,p.=,ENST00000534972,;BPIFC,intron_variant,,ENST00000432451,;	uc003amn.2	c.1149C>T	1149/1980	1	1			c.1149C>T						22	SNP	c.(1147-1149)TTC>TTT	52	52			ovary(1)|skin(1)	2	Broad	bactericidal/permeability-increasing			32828360		0.517	ENSG00000184459	1459	g.chr22:32828360G>A		extracellular region	lipopolysaccharide binding|phospholipid binding							30.525439	KEEP	8	9	-1	26	35	8	9	-1	36.577636	26	35	0.197183	1	0	0	0	0	0	0	1	0	--	--		0	A			BPIL2_uc010gwo.2_Intron|BPIL2_uc011amb.1_Silent_p.F107F	210	GBM-28-2502-TP	p.F383F	G	CCAGACTTACGAAGTCCATGG	NM_174932	NP_777592	32828360	Q8NFQ6	BPIL2_HUMAN	0			10	1149	-	A	A			Silent	383						
BPIFC	254240		GRCh37	22	32828374	32828374	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000397452.1:c.1135G>A	p.Val379Ile	p.V379I	ENST00000397452		379	Gtt/Att	0																																																																																																																																																																																																																																												
BPTF	0	broad.mit.edu	GRCh37	17	65889772	65889775	+	frameshift_variant	Frame_Shift_Del	DEL	GACT	GACT	-			TCGA-12-1597-01	TCGA-12-1597-01	GACT	GACT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321892.4:c.2724_2727delGACT	p.Thr909SerfsTer4	p.T909Sfs*4	ENST00000321892		907	aGACTg/ag	0			1			-	RL/X	uc002jgf.2	protein_coding					2720-2723/9141									ovary(2)|skin(2)	4	c.(2341-2346)AGACTGfs			hmmpanther:PTHR22880:SF5,hmmpanther:PTHR22880	bromodomain PHD finger transcription factor				ENSP00000315454		30-Aug										30-Aug	.		ENST00000321892	Transcript			brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	ENSG00000171634	g.chr17:65889772_65889775delGACT	3581	4		HIGH								--	--	1																																		BPTF_uc002jge.2_Frame_Shift_Del_p.R907fs|BPTF_uc010wqm.1_Frame_Shift_Del_p.R844fs					p.R781fs	NM_182641	NP_872579				BPTF_HUMAN	BPTF	HGNC	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)				6	2403_2406	+	all_cancers(12;6e-11)		UPI0001838807	907_908			Interaction with MAZ.		deletion	BPTF,frameshift_variant,p.Thr909SerfsTer4,ENST00000321892,;BPTF,frameshift_variant,p.Thr909SerfsTer4,ENST00000335221,NM_004459.6;BPTF,frameshift_variant,p.Thr783SerfsTer4,ENST00000306378,NM_182641.3;BPTF,frameshift_variant,p.Thr770SerfsTer4,ENST00000424123,;BPTF,frameshift_variant,p.Thr846SerfsTer4,ENST00000544778,;BPTF,downstream_gene_variant,,ENST00000544491,;BPTF,non_coding_transcript_exon_variant,,ENST00000467104,;BPTF,downstream_gene_variant,,ENST00000579173,;	uc002jgf.2	c.2342_2345delGACT	2781-2784/11292	5	5			c.2342_2345delGACT						17	DEL	c.(2341-2346)AGACTGfs	51	51			ovary(2)|skin(2)	4	Broad	bromodomain PHD finger transcription factor			65889775		0.412	ENSG00000171634	1462	g.chr17:65889772_65889775delGACT	brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding																				0.47	1	1	0	1	0	0	0	0	0	--	--		0	-			BPTF_uc002jge.2_Frame_Shift_Del_p.R907fs|BPTF_uc010wqm.1_Frame_Shift_Del_p.R844fs	124	GBM-12-1597-TP	p.R781fs	GACT	TCTACTCTGAGACTGACTATCACC	NM_182641	NP_872579	65889772	Q12830	BPTF_HUMAN	0	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		6	2403_2406	+	-	-	all_cancers(12;6e-11)		Frame_Shift_Del	907_908			Interaction with MAZ.			
BPTF	0	broad.mit.edu	GRCh37	17	65822381	65822383	+	inframe_deletion	In_Frame_Del	DEL	GAC	GAC	-			TCGA-32-2632-01	TCGA-32-2632-01	GAC	GAC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321892.4:c.554_556delACG	p.Asp185del	p.D185del	ENST00000321892		181	GAC/-	0			1			-	D/-	uc002jgf.2	protein_coding					541-543/9141									ovary(2)|skin(2)	4	c.(541-543)GACdel			Low_complexity_(Seg):seg,hmmpanther:PTHR22880:SF5,hmmpanther:PTHR22880	bromodomain PHD finger transcription factor				ENSP00000315454		30-Jan									rs554343942	30-Jan	.		ENST00000321892	Transcript		-:0.0062	brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	ENSG00000171634	g.chr17:65822381_65822383delGAC	3581	13		MODERATE								--	--	1																																		BPTF_uc002jge.2_In_Frame_Del_p.D185del|BPTF_uc010wqm.1_In_Frame_Del_p.D185del					p.D185del	NM_182641	NP_872579				BPTF_HUMAN	BPTF	HGNC	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)				1	602_604	+	all_cancers(12;6e-11)		UPI0001838807	185			Asp-rich.		deletion	BPTF,inframe_deletion,p.Asp185del,ENST00000321892,;BPTF,inframe_deletion,p.Asp185del,ENST00000335221,NM_004459.6;BPTF,inframe_deletion,p.Asp185del,ENST00000306378,NM_182641.3;BPTF,inframe_deletion,p.Asp46del,ENST00000424123,;BPTF,inframe_deletion,p.Asp185del,ENST00000544778,;	uc002jgf.2	c.541_543delGAC	602-604/11292	5	5			c.541_543delGAC						17	DEL	c.(541-543)GACdel	64	64			ovary(2)|skin(2)	4	Broad	bromodomain PHD finger transcription factor			65822383		0.571	ENSG00000171634	1462	g.chr17:65822381_65822383delGAC	brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding																				0.09	1	1	0	1	0	0	0	0	0	--	--		0	-			BPTF_uc002jge.2_In_Frame_Del_p.D185del|BPTF_uc010wqm.1_In_Frame_Del_p.D185del	240	GBM-32-2632-TP	p.D185del	GAC	GGAGATGGAAGACGACGACGACG	NM_182641	NP_872579	65822381	Q12830	BPTF_HUMAN	0	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		1	602_604	+	-	-	all_cancers(12;6e-11)		In_Frame_Del	185			Asp-rich.			
BPTF	0	broad.mit.edu	GRCh37	17	65888098	65888098	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-41-2575-01	TCGA-41-2575-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321892.4:c.2381A>T	p.Gln794Leu	p.Q794L	ENST00000321892		794	cAg/cTg	0			1			T	Q/L	uc002jgf.2	protein_coding					2381/9141									ovary(2)|skin(2)	4	c.(2002-2004)CAG>CTG			hmmpanther:PTHR22880:SF5,hmmpanther:PTHR22880	bromodomain PHD finger transcription factor				ENSP00000315454		30-Jul									COSM3403141,COSM3403142	30-Jul	.		ENST00000321892	Transcript			brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	ENSG00000171634	g.chr17:65888098A>T	3581			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=BPTF_HUMAN&rb=638&re=837&var=Q794L	NA	getma.org/?cm=var&var=hg19,17,65888098,A,T&fts=all	Q794L	--	--	1																																		BPTF_uc002jge.2_Missense_Mutation_p.Q794L|BPTF_uc010wqm.1_Missense_Mutation_p.Q731L	1,1			probably_damaging(0.988)	p.Q668L	NM_182641	NP_872579			1,1	BPTF_HUMAN	BPTF	HGNC	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)				5	2064	+	all_cancers(12;6e-11)		UPI0001838807	794					SNV	BPTF,missense_variant,p.Gln794Leu,ENST00000321892,;BPTF,missense_variant,p.Gln794Leu,ENST00000335221,NM_004459.6;BPTF,missense_variant,p.Gln668Leu,ENST00000306378,NM_182641.3;BPTF,missense_variant,p.Gln655Leu,ENST00000424123,;BPTF,missense_variant,p.Gln731Leu,ENST00000544778,;BPTF,downstream_gene_variant,,ENST00000544491,;BPTF,non_coding_transcript_exon_variant,,ENST00000579173,;BPTF,upstream_gene_variant,,ENST00000467104,;	uc002jgf.2	c.2003A>T	2442/11292	1	1			c.2003A>T						17	SNP	c.(2002-2004)CAG>CTG	5	5			ovary(2)|skin(2)	4	Broad	bromodomain PHD finger transcription factor			65888098		0.433	ENSG00000171634	1462	g.chr17:65888098A>T	brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding							90.606505	KEEP	14	19	-1	14	16	14	19	-1	90.623015	14	16	0.518519	1	0	0	0	0	1	0	0	0	--	--		0	T			BPTF_uc002jge.2_Missense_Mutation_p.Q794L|BPTF_uc010wqm.1_Missense_Mutation_p.Q731L	253	GBM-41-2575-TP	p.Q668L	A	AAGAGCCAGCAGGTGGCAGCC	NM_182641	NP_872579	65888098	Q12830	BPTF_HUMAN	0	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		5	2064	+	T	T	all_cancers(12;6e-11)		Missense_Mutation	794						
BPTF	0	broad.mit.edu	GRCh37	17	65924656	65924656	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-76-6193-01	TCGA-76-6193-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321892.4:c.6315A>G	p.Gln2105=	p.Q2105=	ENST00000321892		2105	caA/caG	0			1			G	Q	uc002jgf.2	protein_coding					6315/9141									ovary(2)|skin(2)	4	c.(5935-5937)CAA>CAG			hmmpanther:PTHR22880:SF5,hmmpanther:PTHR22880	bromodomain PHD finger transcription factor				ENSP00000315454		18/30									COSM3403145,COSM3403146	18/30	.		ENST00000321892	Transcript			brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	ENSG00000171634	g.chr17:65924656A>G	3581			LOW								--	--	1																																		BPTF_uc002jge.2_Silent_p.Q2105Q	1,1				p.Q1979Q	NM_182641	NP_872579			1,1	BPTF_HUMAN	BPTF	HGNC	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)				16	5998	+	all_cancers(12;6e-11)		UPI0001838807	2105					SNV	BPTF,synonymous_variant,p.=,ENST00000321892,;BPTF,synonymous_variant,p.=,ENST00000335221,NM_004459.6;BPTF,synonymous_variant,p.=,ENST00000306378,NM_182641.3;BPTF,synonymous_variant,p.=,ENST00000424123,;BPTF,synonymous_variant,p.=,ENST00000544778,;BPTF,synonymous_variant,p.=,ENST00000582467,;	uc002jgf.2	c.5937A>G	6376/11292	3	3			c.5937A>G						17	SNP	c.(5935-5937)CAA>CAG	49	49			ovary(2)|skin(2)	4	Broad	bromodomain PHD finger transcription factor			65924656		0.393	ENSG00000171634	1462	g.chr17:65924656A>G	brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding							56.437512	KEEP	7	12	-1	25	25	7	12	-1	58.992816	25	25	0.292308	1	0	0	0	0	0	0	1	0	--	--		0	G			BPTF_uc002jge.2_Silent_p.Q2105Q	276	GBM-76-6193-TP	p.Q1979Q	A	TAACATTCCAACAAAACAAGA	NM_182641	NP_872579	65924656	Q12830	BPTF_HUMAN	0	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		16	5998	+	G	G	all_cancers(12;6e-11)		Silent	2105						
BRAF	673	broad.mit.edu	GRCh37	7	140453136	140453136	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-02-0047-01	TCGA-02-0047-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288602.6:c.1799T>A	p.Val600Glu	p.V600E	ENST00000288602	NM_004333.4	600	gTg/gAg	0			1			T	V/E	uc003vwc.3	protein_coding	YES	CCDS5863.1	V600E(UACC257_SKIN)|V600D(K029AX_SKIN)|V600E(HS695T_SKIN)|V600E(COLO679_SKIN)|V600E(BT474_BREAST)|V600E(IGR39_SKIN)|V600E(A101D_SKIN)|V600E(COLO783_SKIN)|V600E(IGR37_SKIN)|V600E(A375_SKIN)|V600E(WM793_SKIN)|V600E(COLO818_SKIN)|V600E(HS294T_SKIN)|V600E(SKMEL28_SKIN)|V600E(DU4475_BREAST)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(IGR1_SKIN)|V600E(SKHEP1_LIVER)|V600E(WM983B_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(RVH421_SKIN)|V600D(WM2664_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(SKMEL24_SKIN)|V600D(WM115_SKIN)|V600E(MALME3M_SKIN)|V600E(A673_BONE)|V600E(C32_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO800_SKIN)|V600E(COLO741_SKIN)|V600E(HS939T_SKIN)|V600E(COLO205_LARGE_INTESTINE)|V600E(K029AX_SKIN)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(SH4_SKIN)|V600E(WM88_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO849_SKIN)|V600E(MELHO_SKIN)|V600E(BHT101_THYROID)|V600E(G361_SKIN)|V600E(UACC62_SKIN)|V600E(BCPAP_THYROID)|V600E(8505C_THYROID)|V600E(SW1417_LARGE_INTESTINE)|V600E(COLO829_SKIN)|V600E(RKO_LARGE_INTESTINE)|V600E(A2058_SKIN)|V600E(RPMI7951_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(SKMEL5_SKIN)|V600E(ES2_OVARY)|V600E(LOXIMVI_SKIN)	61	1799/2301	Mis|T|O	Cardio-facio-cutaneous syndrome	AKAP9|KIAA1549		melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma	pathogenic	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	p.V600E(16892)|p.V600?(325)|p.V600K(176)|p.V600R(36)|p.V600M(25)|p.V600A(23)|p.V600D(21)|p.V600G(11)|p.V600_K601>E(8)|p.T599_V600insTT(3)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600L(2)|p.T599_V600insT(2)|p.V600_W604del(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insV(1)|p.T599_V600insDFGLAT(1)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	c.(1798-1800)GTG>GAG			PROSITE_profiles:PS50011,hmmpanther:PTHR23257:SF360,hmmpanther:PTHR23257,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	B-Raf	Sorafenib(DB00398)			ENSP00000288602		15/18									rs113488022,COSM476	15/18	.	Cardiofaciocutaneous_syndrome	ENST00000288602	Transcript	1		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	ENSG00000157764	g.chr7:140453136A>T	1097			MODERATE		1.32	low	getma.org/?cm=msa&ty=f&p=BRAF_HUMAN&rb=457&re=714&var=V600E	getma.org/pdb.php?prot=BRAF_HUMAN&from=457&to=714&var=V600E	getma.org/?cm=var&var=hg19,7,140453136,A,T&fts=all	V600E	--	--	1																																			1,1	1	21499247	probably_damaging(0.967)	p.V600E	NM_004333	NP_004324		deleterious(0)	1,1	BRAF_HUMAN	BRAF	HGNC	P15056	BRAF_HUMAN			Q75MQ8_HUMAN,E5FF37_HUMAN,D7PBN4_HUMAN		15	1860	-	Melanoma(164;0.00956)		UPI000013DF26	600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		SNV	BRAF,missense_variant,p.Val208Glu,ENST00000496384,;BRAF,missense_variant,p.Val600Glu,ENST00000288602,NM_004333.4;BRAF,missense_variant,p.Val28Glu,ENST00000479537,;BRAF,3_prime_UTR_variant,,ENST00000497784,;	uc003vwc.3	c.1799T>A	1860/2480	1	1	V600E(UACC257_SKIN)|V600D(K029AX_SKIN)|V600E(HS695T_SKIN)|V600E(COLO679_SKIN)|V600E(BT474_BREAST)|V600E(IGR39_SKIN)|V600E(A101D_SKIN)|V600E(COLO783_SKIN)|V600E(IGR37_SKIN)|V600E(A375_SKIN)|V600E(WM793_SKIN)|V600E(COLO818_SKIN)|V600E(HS294T_SKIN)|V600E(SKMEL28_SKIN)|V600E(DU4475_BREAST)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(IGR1_SKIN)|V600E(SKHEP1_LIVER)|V600E(WM983B_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(RVH421_SKIN)|V600D(WM2664_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(SKMEL24_SKIN)|V600D(WM115_SKIN)|V600E(MALME3M_SKIN)|V600E(A673_BONE)|V600E(C32_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO800_SKIN)|V600E(COLO741_SKIN)|V600E(HS939T_SKIN)|V600E(COLO205_LARGE_INTESTINE)|V600E(K029AX_SKIN)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(SH4_SKIN)|V600E(WM88_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO849_SKIN)|V600E(MELHO_SKIN)|V600E(BHT101_THYROID)|V600E(G361_SKIN)|V600E(UACC62_SKIN)|V600E(BCPAP_THYROID)|V600E(8505C_THYROID)|V600E(SW1417_LARGE_INTESTINE)|V600E(COLO829_SKIN)|V600E(RKO_LARGE_INTESTINE)|V600E(A2058_SKIN)|V600E(RPMI7951_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(SKMEL5_SKIN)|V600E(ES2_OVARY)|V600E(LOXIMVI_SKIN)	61	c.1799T>A	Mis|T|O	Cardio-facio-cutaneous syndrome	AKAP9|KIAA1549		melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma	7	SNP	c.(1798-1800)GTG>GAG	8	8	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	p.V600E(16892)|p.V600?(325)|p.V600K(176)|p.V600R(36)|p.V600M(25)|p.V600A(23)|p.V600D(21)|p.V600G(11)|p.V600_K601>E(8)|p.T599_V600insTT(3)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600L(2)|p.T599_V600insT(2)|p.V600_W604del(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insV(1)|p.T599_V600insDFGLAT(1)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Broad	B-Raf		Sorafenib(DB00398)	140453136	Cardiofaciocutaneous_syndrome	0.368	ENSG00000157764	1463	g.chr7:140453136A>T	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	Colon(40;35 892 2973 5743 27438)	p.V600E(G361-Tumor)|p.V600E(HT144-Tumor)|p.V600E(MDAMB361-Tumor)|p.V600E(COLO783-Tumor)|p.V600E(COLO201-Tumor)|p.V600E(8505C-Tumor)|p.V600E(COLO205-Tumor)|p.V600E(A673-Tumor)|p.V600E(WM88-Tumor)|p.V600E(LOXIMVI-Tumor)|p.V600D(WM2664-Tumor)|p.V600K(MDST8-Tumor)|p.V600E(HT29-Tumor)|p.V600E(CL34-Tumor)|p.V600E(COLO818-Tumor)|p.V600E(COLO741-Tumor)|p.V600E(LS411N-Tumor)|p.V600E(SKMEL28-Tumor)|p.V600E(NMCG1-Tumor)|p.V600E(MELHO-Tumor)|p.V600E(WM983B-Tumor)|p.V600E(OUMS23-Tumor)|p.V600E(NCIH854-Tumor)|p.V600E(IGR39-Tumor)|p.V600E(SKHEP1-Tumor)|p.V600E(COLO679-Tumor)|p.V600E(SKMEL5-Tumor)|p.V600E(UACC257-Tumor)|p.V600E(HS695T-Tumor)|p.V600E(A375-Tumor)|p.V600E(MALME3M-Tumor)|p.V600E(AM38-Tumor)|p.V600E(SIGM5-Tumor)|p.V600E(DBTRG05MG-Tumor)|p.V600E(8305C-Tumor)|p.V600E(SKMEL24-Tumor)|p.V600E(WM793-Tumor)|p.V600E(BCPAP-Tumor)|p.V600D(WM115-Tumor)|p.V600E(SNUC5-Tumor)|p.V600E(GCT-Tumor)|p.V600E(ES2-Tumor)|p.V600E(SW1417-Tumor)|p.V600E(MDAMB435S-Tumor)|p.V600E(HS294T-Tumor)|p.V600E(DU4475-Tumor)|p.V600E(C32-Tumor)|p.V600E(A101D-Tumor)|p.V600E(COLO829-Tumor)|p.V600E(SKMEL3-Tumor)|p.V600E(SKMEL1-Tumor)|p.V600E(WM1799-Tumor)|p.V600E(RKO-Tumor)|p.V600E(IGR37-Tumor)|p.V600E(K029AX-Tumor)|p.V600E(JHOM2B-Tumor)|p.V600E(SH4-Tumor)	451	Colon(40;35 892 2973 5743 27438)	p.V600E(G361-Tumor)|p.V600E(HT144-Tumor)|p.V600E(MDAMB361-Tumor)|p.V600E(COLO783-Tumor)|p.V600E(COLO201-Tumor)|p.V600E(8505C-Tumor)|p.V600E(COLO205-Tumor)|p.V600E(A673-Tumor)|p.V600E(WM88-Tumor)|p.V600E(LOXIMVI-Tumor)|p.V600D(WM2664-Tumor)|p.V600K(MDST8-Tumor)|p.V600E(HT29-Tumor)|p.V600E(CL34-Tumor)|p.V600E(COLO818-Tumor)|p.V600E(COLO741-Tumor)|p.V600E(LS411N-Tumor)|p.V600E(SKMEL28-Tumor)|p.V600E(NMCG1-Tumor)|p.V600E(MELHO-Tumor)|p.V600E(WM983B-Tumor)|p.V600E(OUMS23-Tumor)|p.V600E(NCIH854-Tumor)|p.V600E(IGR39-Tumor)|p.V600E(SKHEP1-Tumor)|p.V600E(COLO679-Tumor)|p.V600E(SKMEL5-Tumor)|p.V600E(UACC257-Tumor)|p.V600E(HS695T-Tumor)|p.V600E(A375-Tumor)|p.V600E(MALME3M-Tumor)|p.V600E(AM38-Tumor)|p.V600E(SIGM5-Tumor)|p.V600E(DBTRG05MG-Tumor)|p.V600E(8305C-Tumor)|p.V600E(SKMEL24-Tumor)|p.V600E(WM793-Tumor)|p.V600E(BCPAP-Tumor)|p.V600D(WM115-Tumor)|p.V600E(SNUC5-Tumor)|p.V600E(GCT-Tumor)|p.V600E(ES2-Tumor)|p.V600E(SW1417-Tumor)|p.V600E(MDAMB435S-Tumor)|p.V600E(HS294T-Tumor)|p.V600E(DU4475-Tumor)|p.V600E(C32-Tumor)|p.V600E(A101D-Tumor)|p.V600E(COLO829-Tumor)|p.V600E(SKMEL3-Tumor)|p.V600E(SKMEL1-Tumor)|p.V600E(WM1799-Tumor)|p.V600E(RKO-Tumor)|p.V600E(IGR37-Tumor)|p.V600E(K029AX-Tumor)|p.V600E(JHOM2B-Tumor)|p.V600E(SH4-Tumor)	451	-19.574769	KEEP	3	3	-1	74	79	3	3	-1	13.499518	74	79	0.041096	1	0	0	0	0	1	0	0	0	--	--		0	T				3	GBM-02-0047-TP	p.V600E	A	TCGAGATTTCACTGTAGCTAG	NM_004333	NP_004324	140453136	P15056	BRAF_HUMAN	0			15	1860	-	T	T	Melanoma(164;0.00956)		Missense_Mutation	600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.			
BRAF	673	broad.mit.edu	GRCh37	7	140453136	140453136	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0644-01	TCGA-06-0644-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288602.6:c.1799T>A	p.Val600Glu	p.V600E	ENST00000288602	NM_004333.4	600	gTg/gAg	0			1			T	V/E	uc003vwc.3	protein_coding	YES	CCDS5863.1	V600E(UACC257_SKIN)|V600D(K029AX_SKIN)|V600E(HS695T_SKIN)|V600E(COLO679_SKIN)|V600E(BT474_BREAST)|V600E(IGR39_SKIN)|V600E(A101D_SKIN)|V600E(COLO783_SKIN)|V600E(IGR37_SKIN)|V600E(A375_SKIN)|V600E(WM793_SKIN)|V600E(COLO818_SKIN)|V600E(HS294T_SKIN)|V600E(SKMEL28_SKIN)|V600E(DU4475_BREAST)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(IGR1_SKIN)|V600E(SKHEP1_LIVER)|V600E(WM983B_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(RVH421_SKIN)|V600D(WM2664_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(SKMEL24_SKIN)|V600D(WM115_SKIN)|V600E(MALME3M_SKIN)|V600E(A673_BONE)|V600E(C32_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO800_SKIN)|V600E(COLO741_SKIN)|V600E(HS939T_SKIN)|V600E(COLO205_LARGE_INTESTINE)|V600E(K029AX_SKIN)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(SH4_SKIN)|V600E(WM88_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO849_SKIN)|V600E(MELHO_SKIN)|V600E(BHT101_THYROID)|V600E(G361_SKIN)|V600E(UACC62_SKIN)|V600E(BCPAP_THYROID)|V600E(8505C_THYROID)|V600E(SW1417_LARGE_INTESTINE)|V600E(COLO829_SKIN)|V600E(RKO_LARGE_INTESTINE)|V600E(A2058_SKIN)|V600E(RPMI7951_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(SKMEL5_SKIN)|V600E(ES2_OVARY)|V600E(LOXIMVI_SKIN)	61	1799/2301	Mis|T|O	Cardio-facio-cutaneous syndrome	AKAP9|KIAA1549		melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma	pathogenic	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	p.V600E(16892)|p.V600?(325)|p.V600K(176)|p.V600R(36)|p.V600M(25)|p.V600A(23)|p.V600D(21)|p.V600G(11)|p.V600_K601>E(8)|p.T599_V600insTT(3)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600L(2)|p.T599_V600insT(2)|p.V600_W604del(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insV(1)|p.T599_V600insDFGLAT(1)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	c.(1798-1800)GTG>GAG			PROSITE_profiles:PS50011,hmmpanther:PTHR23257:SF360,hmmpanther:PTHR23257,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	B-Raf	Sorafenib(DB00398)			ENSP00000288602		15/18									rs113488022,COSM476	15/18	.	Cardiofaciocutaneous_syndrome	ENST00000288602	Transcript	1		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	ENSG00000157764	g.chr7:140453136A>T	1097			MODERATE		1.32	low	getma.org/?cm=msa&ty=f&p=BRAF_HUMAN&rb=457&re=714&var=V600E	getma.org/pdb.php?prot=BRAF_HUMAN&from=457&to=714&var=V600E	getma.org/?cm=var&var=hg19,7,140453136,A,T&fts=all	V600E	--	--	1																																			1,1	1	21499247	probably_damaging(0.967)	p.V600E	NM_004333	NP_004324		deleterious(0)	1,1	BRAF_HUMAN	BRAF	HGNC	P15056	BRAF_HUMAN			Q75MQ8_HUMAN,E5FF37_HUMAN,D7PBN4_HUMAN		15	1860	-	Melanoma(164;0.00956)		UPI000013DF26	600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		SNV	BRAF,missense_variant,p.Val208Glu,ENST00000496384,;BRAF,missense_variant,p.Val600Glu,ENST00000288602,NM_004333.4;BRAF,missense_variant,p.Val28Glu,ENST00000479537,;BRAF,3_prime_UTR_variant,,ENST00000497784,;	uc003vwc.3	c.1799T>A	1860/2480	1	1	V600E(UACC257_SKIN)|V600D(K029AX_SKIN)|V600E(HS695T_SKIN)|V600E(COLO679_SKIN)|V600E(BT474_BREAST)|V600E(IGR39_SKIN)|V600E(A101D_SKIN)|V600E(COLO783_SKIN)|V600E(IGR37_SKIN)|V600E(A375_SKIN)|V600E(WM793_SKIN)|V600E(COLO818_SKIN)|V600E(HS294T_SKIN)|V600E(SKMEL28_SKIN)|V600E(DU4475_BREAST)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(IGR1_SKIN)|V600E(SKHEP1_LIVER)|V600E(WM983B_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(RVH421_SKIN)|V600D(WM2664_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(SKMEL24_SKIN)|V600D(WM115_SKIN)|V600E(MALME3M_SKIN)|V600E(A673_BONE)|V600E(C32_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO800_SKIN)|V600E(COLO741_SKIN)|V600E(HS939T_SKIN)|V600E(COLO205_LARGE_INTESTINE)|V600E(K029AX_SKIN)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(SH4_SKIN)|V600E(WM88_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO849_SKIN)|V600E(MELHO_SKIN)|V600E(BHT101_THYROID)|V600E(G361_SKIN)|V600E(UACC62_SKIN)|V600E(BCPAP_THYROID)|V600E(8505C_THYROID)|V600E(SW1417_LARGE_INTESTINE)|V600E(COLO829_SKIN)|V600E(RKO_LARGE_INTESTINE)|V600E(A2058_SKIN)|V600E(RPMI7951_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(SKMEL5_SKIN)|V600E(ES2_OVARY)|V600E(LOXIMVI_SKIN)	61	c.1799T>A	Mis|T|O	Cardio-facio-cutaneous syndrome	AKAP9|KIAA1549		melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma	7	SNP	c.(1798-1800)GTG>GAG	8	8	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	p.V600E(16892)|p.V600?(325)|p.V600K(176)|p.V600R(36)|p.V600M(25)|p.V600A(23)|p.V600D(21)|p.V600G(11)|p.V600_K601>E(8)|p.T599_V600insTT(3)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600L(2)|p.T599_V600insT(2)|p.V600_W604del(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insV(1)|p.T599_V600insDFGLAT(1)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Broad	B-Raf		Sorafenib(DB00398)	140453136	Cardiofaciocutaneous_syndrome	0.368	ENSG00000157764	1463	g.chr7:140453136A>T	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	Colon(40;35 892 2973 5743 27438)	p.V600E(G361-Tumor)|p.V600E(HT144-Tumor)|p.V600E(MDAMB361-Tumor)|p.V600E(COLO783-Tumor)|p.V600E(COLO201-Tumor)|p.V600E(8505C-Tumor)|p.V600E(COLO205-Tumor)|p.V600E(A673-Tumor)|p.V600E(WM88-Tumor)|p.V600E(LOXIMVI-Tumor)|p.V600D(WM2664-Tumor)|p.V600K(MDST8-Tumor)|p.V600E(HT29-Tumor)|p.V600E(CL34-Tumor)|p.V600E(COLO818-Tumor)|p.V600E(COLO741-Tumor)|p.V600E(LS411N-Tumor)|p.V600E(SKMEL28-Tumor)|p.V600E(NMCG1-Tumor)|p.V600E(MELHO-Tumor)|p.V600E(WM983B-Tumor)|p.V600E(OUMS23-Tumor)|p.V600E(NCIH854-Tumor)|p.V600E(IGR39-Tumor)|p.V600E(SKHEP1-Tumor)|p.V600E(COLO679-Tumor)|p.V600E(SKMEL5-Tumor)|p.V600E(UACC257-Tumor)|p.V600E(HS695T-Tumor)|p.V600E(A375-Tumor)|p.V600E(MALME3M-Tumor)|p.V600E(AM38-Tumor)|p.V600E(SIGM5-Tumor)|p.V600E(DBTRG05MG-Tumor)|p.V600E(8305C-Tumor)|p.V600E(SKMEL24-Tumor)|p.V600E(WM793-Tumor)|p.V600E(BCPAP-Tumor)|p.V600D(WM115-Tumor)|p.V600E(SNUC5-Tumor)|p.V600E(GCT-Tumor)|p.V600E(ES2-Tumor)|p.V600E(SW1417-Tumor)|p.V600E(MDAMB435S-Tumor)|p.V600E(HS294T-Tumor)|p.V600E(DU4475-Tumor)|p.V600E(C32-Tumor)|p.V600E(A101D-Tumor)|p.V600E(COLO829-Tumor)|p.V600E(SKMEL3-Tumor)|p.V600E(SKMEL1-Tumor)|p.V600E(WM1799-Tumor)|p.V600E(RKO-Tumor)|p.V600E(IGR37-Tumor)|p.V600E(K029AX-Tumor)|p.V600E(JHOM2B-Tumor)|p.V600E(SH4-Tumor)	451	Colon(40;35 892 2973 5743 27438)	p.V600E(G361-Tumor)|p.V600E(HT144-Tumor)|p.V600E(MDAMB361-Tumor)|p.V600E(COLO783-Tumor)|p.V600E(COLO201-Tumor)|p.V600E(8505C-Tumor)|p.V600E(COLO205-Tumor)|p.V600E(A673-Tumor)|p.V600E(WM88-Tumor)|p.V600E(LOXIMVI-Tumor)|p.V600D(WM2664-Tumor)|p.V600K(MDST8-Tumor)|p.V600E(HT29-Tumor)|p.V600E(CL34-Tumor)|p.V600E(COLO818-Tumor)|p.V600E(COLO741-Tumor)|p.V600E(LS411N-Tumor)|p.V600E(SKMEL28-Tumor)|p.V600E(NMCG1-Tumor)|p.V600E(MELHO-Tumor)|p.V600E(WM983B-Tumor)|p.V600E(OUMS23-Tumor)|p.V600E(NCIH854-Tumor)|p.V600E(IGR39-Tumor)|p.V600E(SKHEP1-Tumor)|p.V600E(COLO679-Tumor)|p.V600E(SKMEL5-Tumor)|p.V600E(UACC257-Tumor)|p.V600E(HS695T-Tumor)|p.V600E(A375-Tumor)|p.V600E(MALME3M-Tumor)|p.V600E(AM38-Tumor)|p.V600E(SIGM5-Tumor)|p.V600E(DBTRG05MG-Tumor)|p.V600E(8305C-Tumor)|p.V600E(SKMEL24-Tumor)|p.V600E(WM793-Tumor)|p.V600E(BCPAP-Tumor)|p.V600D(WM115-Tumor)|p.V600E(SNUC5-Tumor)|p.V600E(GCT-Tumor)|p.V600E(ES2-Tumor)|p.V600E(SW1417-Tumor)|p.V600E(MDAMB435S-Tumor)|p.V600E(HS294T-Tumor)|p.V600E(DU4475-Tumor)|p.V600E(C32-Tumor)|p.V600E(A101D-Tumor)|p.V600E(COLO829-Tumor)|p.V600E(SKMEL3-Tumor)|p.V600E(SKMEL1-Tumor)|p.V600E(WM1799-Tumor)|p.V600E(RKO-Tumor)|p.V600E(IGR37-Tumor)|p.V600E(K029AX-Tumor)|p.V600E(JHOM2B-Tumor)|p.V600E(SH4-Tumor)	451	73.12409	KEEP	20	19	-1	91	101	20	19	-1	94.832069	91	101	0.165854	1	0	0	0	0	1	0	0	0	--	--		0	T				58	GBM-06-0644-TP	p.V600E	A	TCGAGATTTCACTGTAGCTAG	NM_004333	NP_004324	140453136	P15056	BRAF_HUMAN	0			15	1860	-	T	T	Melanoma(164;0.00956)		Missense_Mutation	600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.			
BRAF	0	broad.mit.edu	GRCh37	7	140453136	140453136	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-76-4928-01	TCGA-76-4928-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288602.6:c.1799T>A	p.Val600Glu	p.V600E	ENST00000288602	NM_004333.4	600	gTg/gAg	0			1			T	V/E	uc003vwc.3	protein_coding	YES	CCDS5863.1	V600E(UACC257_SKIN)|V600D(K029AX_SKIN)|V600E(HS695T_SKIN)|V600E(COLO679_SKIN)|V600E(BT474_BREAST)|V600E(IGR39_SKIN)|V600E(A101D_SKIN)|V600E(COLO783_SKIN)|V600E(IGR37_SKIN)|V600E(A375_SKIN)|V600E(WM793_SKIN)|V600E(COLO818_SKIN)|V600E(HS294T_SKIN)|V600E(SKMEL28_SKIN)|V600E(DU4475_BREAST)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(IGR1_SKIN)|V600E(SKHEP1_LIVER)|V600E(WM983B_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(RVH421_SKIN)|V600D(WM2664_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(SKMEL24_SKIN)|V600D(WM115_SKIN)|V600E(MALME3M_SKIN)|V600E(A673_BONE)|V600E(C32_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO800_SKIN)|V600E(COLO741_SKIN)|V600E(HS939T_SKIN)|V600E(COLO205_LARGE_INTESTINE)|V600E(K029AX_SKIN)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(SH4_SKIN)|V600E(WM88_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO849_SKIN)|V600E(MELHO_SKIN)|V600E(BHT101_THYROID)|V600E(G361_SKIN)|V600E(UACC62_SKIN)|V600E(BCPAP_THYROID)|V600E(8505C_THYROID)|V600E(SW1417_LARGE_INTESTINE)|V600E(COLO829_SKIN)|V600E(RKO_LARGE_INTESTINE)|V600E(A2058_SKIN)|V600E(RPMI7951_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(SKMEL5_SKIN)|V600E(ES2_OVARY)|V600E(LOXIMVI_SKIN)	61	1799/2301	Mis|T|O	Cardio-facio-cutaneous syndrome	AKAP9|KIAA1549		melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma	pathogenic	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	p.V600E(16892)|p.V600?(325)|p.V600K(176)|p.V600R(36)|p.V600M(25)|p.V600A(23)|p.V600D(21)|p.V600G(11)|p.V600_K601>E(8)|p.T599_V600insTT(3)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600L(2)|p.T599_V600insT(2)|p.V600_W604del(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insV(1)|p.T599_V600insDFGLAT(1)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	c.(1798-1800)GTG>GAG			PROSITE_profiles:PS50011,hmmpanther:PTHR23257:SF360,hmmpanther:PTHR23257,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	B-Raf	Sorafenib(DB00398)			ENSP00000288602		15/18									rs113488022,COSM476	15/18	.	Cardiofaciocutaneous_syndrome	ENST00000288602	Transcript	1		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	ENSG00000157764	g.chr7:140453136A>T	1097			MODERATE		1.32	low	getma.org/?cm=msa&ty=f&p=BRAF_HUMAN&rb=457&re=714&var=V600E	getma.org/pdb.php?prot=BRAF_HUMAN&from=457&to=714&var=V600E	getma.org/?cm=var&var=hg19,7,140453136,A,T&fts=all	V600E	--	--	1																																			1,1	1	21499247	probably_damaging(0.967)	p.V600E	NM_004333	NP_004324		deleterious(0)	1,1	BRAF_HUMAN	BRAF	HGNC	P15056	BRAF_HUMAN			Q75MQ8_HUMAN,E5FF37_HUMAN,D7PBN4_HUMAN		15	1860	-	Melanoma(164;0.00956)		UPI000013DF26	600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		SNV	BRAF,missense_variant,p.Val208Glu,ENST00000496384,;BRAF,missense_variant,p.Val600Glu,ENST00000288602,NM_004333.4;BRAF,missense_variant,p.Val28Glu,ENST00000479537,;BRAF,3_prime_UTR_variant,,ENST00000497784,;	uc003vwc.3	c.1799T>A	1860/2480	1	1	V600E(UACC257_SKIN)|V600D(K029AX_SKIN)|V600E(HS695T_SKIN)|V600E(COLO679_SKIN)|V600E(BT474_BREAST)|V600E(IGR39_SKIN)|V600E(A101D_SKIN)|V600E(COLO783_SKIN)|V600E(IGR37_SKIN)|V600E(A375_SKIN)|V600E(WM793_SKIN)|V600E(COLO818_SKIN)|V600E(HS294T_SKIN)|V600E(SKMEL28_SKIN)|V600E(DU4475_BREAST)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(IGR1_SKIN)|V600E(SKHEP1_LIVER)|V600E(WM983B_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(RVH421_SKIN)|V600D(WM2664_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(SKMEL24_SKIN)|V600D(WM115_SKIN)|V600E(MALME3M_SKIN)|V600E(A673_BONE)|V600E(C32_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO800_SKIN)|V600E(COLO741_SKIN)|V600E(HS939T_SKIN)|V600E(COLO205_LARGE_INTESTINE)|V600E(K029AX_SKIN)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(SH4_SKIN)|V600E(WM88_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO849_SKIN)|V600E(MELHO_SKIN)|V600E(BHT101_THYROID)|V600E(G361_SKIN)|V600E(UACC62_SKIN)|V600E(BCPAP_THYROID)|V600E(8505C_THYROID)|V600E(SW1417_LARGE_INTESTINE)|V600E(COLO829_SKIN)|V600E(RKO_LARGE_INTESTINE)|V600E(A2058_SKIN)|V600E(RPMI7951_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(SKMEL5_SKIN)|V600E(ES2_OVARY)|V600E(LOXIMVI_SKIN)	61	c.1799T>A	Mis|T|O	Cardio-facio-cutaneous syndrome	AKAP9|KIAA1549		melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma	7	SNP	c.(1798-1800)GTG>GAG	8	8	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	p.V600E(16892)|p.V600?(325)|p.V600K(176)|p.V600R(36)|p.V600M(25)|p.V600A(23)|p.V600D(21)|p.V600G(11)|p.V600_K601>E(8)|p.T599_V600insTT(3)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600L(2)|p.T599_V600insT(2)|p.V600_W604del(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insV(1)|p.T599_V600insDFGLAT(1)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Broad	B-Raf		Sorafenib(DB00398)	140453136	Cardiofaciocutaneous_syndrome	0.368	ENSG00000157764	1463	g.chr7:140453136A>T	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	Colon(40;35 892 2973 5743 27438)	p.V600E(G361-Tumor)|p.V600E(HT144-Tumor)|p.V600E(MDAMB361-Tumor)|p.V600E(COLO783-Tumor)|p.V600E(COLO201-Tumor)|p.V600E(8505C-Tumor)|p.V600E(COLO205-Tumor)|p.V600E(A673-Tumor)|p.V600E(WM88-Tumor)|p.V600E(LOXIMVI-Tumor)|p.V600D(WM2664-Tumor)|p.V600K(MDST8-Tumor)|p.V600E(HT29-Tumor)|p.V600E(CL34-Tumor)|p.V600E(COLO818-Tumor)|p.V600E(COLO741-Tumor)|p.V600E(LS411N-Tumor)|p.V600E(SKMEL28-Tumor)|p.V600E(NMCG1-Tumor)|p.V600E(MELHO-Tumor)|p.V600E(WM983B-Tumor)|p.V600E(OUMS23-Tumor)|p.V600E(NCIH854-Tumor)|p.V600E(IGR39-Tumor)|p.V600E(SKHEP1-Tumor)|p.V600E(COLO679-Tumor)|p.V600E(SKMEL5-Tumor)|p.V600E(UACC257-Tumor)|p.V600E(HS695T-Tumor)|p.V600E(A375-Tumor)|p.V600E(MALME3M-Tumor)|p.V600E(AM38-Tumor)|p.V600E(SIGM5-Tumor)|p.V600E(DBTRG05MG-Tumor)|p.V600E(8305C-Tumor)|p.V600E(SKMEL24-Tumor)|p.V600E(WM793-Tumor)|p.V600E(BCPAP-Tumor)|p.V600D(WM115-Tumor)|p.V600E(SNUC5-Tumor)|p.V600E(GCT-Tumor)|p.V600E(ES2-Tumor)|p.V600E(SW1417-Tumor)|p.V600E(MDAMB435S-Tumor)|p.V600E(HS294T-Tumor)|p.V600E(DU4475-Tumor)|p.V600E(C32-Tumor)|p.V600E(A101D-Tumor)|p.V600E(COLO829-Tumor)|p.V600E(SKMEL3-Tumor)|p.V600E(SKMEL1-Tumor)|p.V600E(WM1799-Tumor)|p.V600E(RKO-Tumor)|p.V600E(IGR37-Tumor)|p.V600E(K029AX-Tumor)|p.V600E(JHOM2B-Tumor)|p.V600E(SH4-Tumor)	451	Colon(40;35 892 2973 5743 27438)	p.V600E(G361-Tumor)|p.V600E(HT144-Tumor)|p.V600E(MDAMB361-Tumor)|p.V600E(COLO783-Tumor)|p.V600E(COLO201-Tumor)|p.V600E(8505C-Tumor)|p.V600E(COLO205-Tumor)|p.V600E(A673-Tumor)|p.V600E(WM88-Tumor)|p.V600E(LOXIMVI-Tumor)|p.V600D(WM2664-Tumor)|p.V600K(MDST8-Tumor)|p.V600E(HT29-Tumor)|p.V600E(CL34-Tumor)|p.V600E(COLO818-Tumor)|p.V600E(COLO741-Tumor)|p.V600E(LS411N-Tumor)|p.V600E(SKMEL28-Tumor)|p.V600E(NMCG1-Tumor)|p.V600E(MELHO-Tumor)|p.V600E(WM983B-Tumor)|p.V600E(OUMS23-Tumor)|p.V600E(NCIH854-Tumor)|p.V600E(IGR39-Tumor)|p.V600E(SKHEP1-Tumor)|p.V600E(COLO679-Tumor)|p.V600E(SKMEL5-Tumor)|p.V600E(UACC257-Tumor)|p.V600E(HS695T-Tumor)|p.V600E(A375-Tumor)|p.V600E(MALME3M-Tumor)|p.V600E(AM38-Tumor)|p.V600E(SIGM5-Tumor)|p.V600E(DBTRG05MG-Tumor)|p.V600E(8305C-Tumor)|p.V600E(SKMEL24-Tumor)|p.V600E(WM793-Tumor)|p.V600E(BCPAP-Tumor)|p.V600D(WM115-Tumor)|p.V600E(SNUC5-Tumor)|p.V600E(GCT-Tumor)|p.V600E(ES2-Tumor)|p.V600E(SW1417-Tumor)|p.V600E(MDAMB435S-Tumor)|p.V600E(HS294T-Tumor)|p.V600E(DU4475-Tumor)|p.V600E(C32-Tumor)|p.V600E(A101D-Tumor)|p.V600E(COLO829-Tumor)|p.V600E(SKMEL3-Tumor)|p.V600E(SKMEL1-Tumor)|p.V600E(WM1799-Tumor)|p.V600E(RKO-Tumor)|p.V600E(IGR37-Tumor)|p.V600E(K029AX-Tumor)|p.V600E(JHOM2B-Tumor)|p.V600E(SH4-Tumor)	451	17.024451	KEEP	12	8	-1	95	87	12	8	-1	45.275767	95	87	0.101124	1	0	0	0	0	1	0	0	0	--	--		0	T				268	GBM-76-4928-TP	p.V600E	A	TCGAGATTTCACTGTAGCTAG	NM_004333	NP_004324	140453136	P15056	BRAF_HUMAN	0			15	1860	-	T	T	Melanoma(164;0.00956)		Missense_Mutation	600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.			
BRAF	673		GRCh37	7	140453136	140453136	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0151-01	TCGA-06-0151-01																				ENST00000288602.6:c.1799T>A	p.Val600Glu	p.V600E	ENST00000288602	NM_004333.4	600	gTg/gAg	0																																																																																																																																																																																																																																												
BRAF	673		GRCh37	7	140453136	140453136	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000288602.6:c.1799T>A	p.Val600Glu	p.V600E	ENST00000288602	NM_004333.4	600	gTg/gAg	0																																																																																																																																																																																																																																												
BRAT1	0	broad.mit.edu	GRCh37	7	2580983	2580983	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0688-01	TCGA-12-0688-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340611.4:c.1270C>T	p.Arg424Trp	p.R424W	ENST00000340611	NM_152743.3	424	Cgg/Tgg	0			1			A	R/W	uc003smi.2	protein_coding	YES	CCDS5334.1			1270/2466										0	c.(1270-1272)CGG>TGG			hmmpanther:PTHR21331,hmmpanther:PTHR21331:SF1,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	hypothetical protein LOC221927 precursor				ENSP00000339637		14-Sep									COSM2153939	14-Sep	.		ENST00000340611	Transcript	1		response to ionizing radiation	nucleus	protein binding	ENSG00000106009	g.chr7:2580983G>A	21701			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=BRAT1_HUMAN&rb=401&re=500&var=R424W	NA	getma.org/?cm=var&var=hg19,7,2580983,G,A&fts=all	R424W	--	--	1																																		C7orf27_uc003smh.3_5'UTR	1	1		probably_damaging(1)	p.R424W	NM_152743	NP_689956		deleterious(0)	1	BRAT1_HUMAN	BRAT1	HGNC	Q6PJG6	BRAT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)	F8WDN5_HUMAN		9	1312	-		Ovarian(82;0.0779)	UPI00001AEB20	424					SNV	BRAT1,missense_variant,p.Arg424Trp,ENST00000340611,NM_152743.3;BRAT1,upstream_gene_variant,,ENST00000473879,;BRAT1,non_coding_transcript_exon_variant,,ENST00000493232,;BRAT1,non_coding_transcript_exon_variant,,ENST00000469750,;BRAT1,non_coding_transcript_exon_variant,,ENST00000467558,;BRAT1,downstream_gene_variant,,ENST00000421712,;	uc003smi.2	c.1270C>T	1527/2915	2	2			c.1270C>T						7	SNP	c.(1270-1272)CGG>TGG	31	31				0	Broad	hypothetical protein LOC221927 precursor			2580983		0.682	ENSG00000106009	2333	g.chr7:2580983G>A	response to ionizing radiation	nucleus	protein binding							32.114743	KEEP	6	5	-1	19	22	6	5	-1	33.187539	19	22	0.314286	1	0	0	0	0	1	0	0	0	--	--		0	A			C7orf27_uc003smh.3_5'UTR	121	GBM-12-0688-TP	p.R424W	G	CGCTGGACCCGGACGCAGCCC	NM_152743	NP_689956	2580983	Q6PJG6	BRAT1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)	9	1312	-	A	A		Ovarian(82;0.0779)	Missense_Mutation	424						
BRCA1	672	broad.mit.edu	GRCh37	17	41244603	41244603	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01	TCGA-06-0649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357654.3:c.2945C>T	p.Pro982Leu	p.P982L	ENST00000357654	NM_007294.3	982	cCa/cTa	0			1			A	P/L	uc002icq.2	protein_coding		CCDS11453.1			2945/5592	D|Mis|N|F|S			breast|ovarian	ovarian				ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52	c.(2944-2946)CCA>CTA		Homologous_recombination	PIRSF_domain:PIRSF001734,hmmpanther:PTHR13763,hmmpanther:PTHR13763:SF0	breast cancer 1, early onset isoform 1				ENSP00000350283		23-Oct									COSM2151490,COSM2151489	23-Oct	.	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	ENST00000357654	Transcript	1		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000012048	g.chr17:41244603G>A	1100			MODERATE		1.21	low	getma.org/?cm=msa&ty=f&p=BRCA1_HUMAN&rb=979&re=1178&var=P982L	NA	getma.org/?cm=var&var=hg19,17,41244603,G,A&fts=all	P982L	--	--	1				TCGA Ovarian(2;0.000030)																														BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.P911L|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.P935L|BRCA1_uc002ict.2_Missense_Mutation_p.P982L|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.P982L|BRCA1_uc002ide.1_Missense_Mutation_p.P813L|BRCA1_uc010cyy.1_Missense_Mutation_p.P982L|BRCA1_uc010whs.1_Missense_Mutation_p.P982L|BRCA1_uc010cyz.2_Missense_Mutation_p.P935L|BRCA1_uc010cza.2_Missense_Mutation_p.P956L|BRCA1_uc010wht.1_Missense_Mutation_p.P686L	1,1			benign(0.005)	p.P982L	NM_007294	NP_009225		tolerated(0.18)	1,1	BRCA1_HUMAN	BRCA1	HGNC	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	Q9UE29_HUMAN,Q9NQR3_HUMAN,Q92897_HUMAN,Q7KYU6_HUMAN,Q4EW25_HUMAN,Q3YB53_HUMAN,Q3YB50_HUMAN,Q3YB49_HUMAN,Q3LRH8_HUMAN,Q3B891_HUMAN,K7EPC7_HUMAN,K4K7V3_HUMAN,K4JXS7_HUMAN,K4JUB1_HUMAN,G4V503_HUMAN,G4V502_HUMAN,G4V500_HUMAN,G4V4Z8_HUMAN,G4V4Z7_HUMAN,G1UI37_HUMAN,E9PFZ0_HUMAN,E7EWN5_HUMAN,E7EP70_HUMAN,C9IZW4_HUMAN,C4PFY7_HUMAN		10	3177	-		Breast(137;0.000717)	UPI0000126AC8	982					SNV	BRCA1,missense_variant,p.Pro686Leu,ENST00000309486,NM_007297.3;BRCA1,missense_variant,p.Pro982Leu,ENST00000357654,NM_007294.3;BRCA1,missense_variant,p.Pro982Leu,ENST00000346315,;BRCA1,missense_variant,p.Pro982Leu,ENST00000354071,;BRCA1,missense_variant,p.Pro982Leu,ENST00000471181,NM_007300.3;BRCA1,missense_variant,p.Pro935Leu,ENST00000493795,;BRCA1,intron_variant,,ENST00000352993,;BRCA1,intron_variant,,ENST00000351666,;BRCA1,intron_variant,,ENST00000468300,NM_007299.3;BRCA1,intron_variant,,ENST00000491747,NM_007298.3;BRCA1,intron_variant,,ENST00000478531,;BRCA1,intron_variant,,ENST00000493919,;BRCA1,intron_variant,,ENST00000484087,;BRCA1,intron_variant,,ENST00000591534,;BRCA1,intron_variant,,ENST00000487825,;BRCA1,intron_variant,,ENST00000586385,;BRCA1,intron_variant,,ENST00000591849,;BRCA1,downstream_gene_variant,,ENST00000470026,;BRCA1,downstream_gene_variant,,ENST00000477152,;BRCA1,downstream_gene_variant,,ENST00000494123,;BRCA1,downstream_gene_variant,,ENST00000473961,;BRCA1,downstream_gene_variant,,ENST00000497488,;BRCA1,downstream_gene_variant,,ENST00000476777,;BRCA1,upstream_gene_variant,,ENST00000461574,;BRCA1,3_prime_UTR_variant,,ENST00000461221,;BRCA1,non_coding_transcript_exon_variant,,ENST00000467274,;BRCA1,downstream_gene_variant,,ENST00000492859,;BRCA1,downstream_gene_variant,,ENST00000412061,;	uc002icq.2	c.2945C>T	3064/7094	2	2			c.2945C>T	D|Mis|N|F|S			breast|ovarian	ovarian	17	SNP	c.(2944-2946)CCA>CTA	44	44			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52	Broad	breast cancer 1, early onset isoform 1	Homologous_recombination		41244603	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	0.368	ENSG00000012048	1465	g.chr17:41244603G>A	androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			296			296	129.245111	KEEP	41	21	-1	87	64	41	21	-1	136.814338	87	64	0.292308	1	0	0	0	0	1	0	0	0	--	--	TCGA Ovarian(2;0.000030)	0	A			BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.P911L|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.P935L|BRCA1_uc002ict.2_Missense_Mutation_p.P982L|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.P982L|BRCA1_uc002ide.1_Missense_Mutation_p.P813L|BRCA1_uc010cyy.1_Missense_Mutation_p.P982L|BRCA1_uc010whs.1_Missense_Mutation_p.P982L|BRCA1_uc010cyz.2_Missense_Mutation_p.P935L|BRCA1_uc010cza.2_Missense_Mutation_p.P956L|BRCA1_uc010wht.1_Missense_Mutation_p.P686L	62	GBM-06-0649-TP	p.P982L	G	GGGAAAAAGTGGTGGTATACG	NM_007294	NP_009225	41244603	P38398	BRCA1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	3177	-	A	A		Breast(137;0.000717)	Missense_Mutation	982						
BRCA1	672	broad.mit.edu	GRCh37	17	41243940	41243940	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs55930959		TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357654.3:c.3608G>A	p.Arg1203Gln	p.R1203Q	ENST00000357654	NM_007294.3	1203	cGa/cAa	0			1			T	R/Q	uc002icq.2	protein_coding		CCDS11453.1			3608/5592	D|Mis|N|F|S			breast|ovarian	ovarian	not_provided,benign			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52	c.(3607-3609)CGA>CAA		Homologous_recombination	PIRSF_domain:PIRSF001734,hmmpanther:PTHR13763,hmmpanther:PTHR13763:SF0	breast cancer 1, early onset isoform 1				ENSP00000350283		23-Oct	5.77E-05				0.00106				rs55930959,COSM3402921,COSM3402920	23-Oct	common_variant	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	ENST00000357654	Transcript	1		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000012048	g.chr17:41243940C>T	1100			MODERATE		-1.35	neutral	getma.org/?cm=msa&ty=f&p=BRCA1_HUMAN&rb=1179&re=1368&var=R1203Q	NA	getma.org/?cm=var&var=hg19,17,41243940,C,T&fts=all	R1203Q	--	--	1				TCGA Ovarian(2;0.000030)																														BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.R1132Q|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.R1156Q|BRCA1_uc002ict.2_Missense_Mutation_p.R1203Q|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.R1203Q|BRCA1_uc002ide.1_Missense_Mutation_p.R1034Q|BRCA1_uc010cyy.1_Missense_Mutation_p.R1203Q|BRCA1_uc010whs.1_Missense_Mutation_p.R1203Q|BRCA1_uc010cyz.2_Missense_Mutation_p.R1156Q|BRCA1_uc010cza.2_Missense_Mutation_p.R1177Q|BRCA1_uc010wht.1_Missense_Mutation_p.R907Q	1,1,1			benign(0)	p.R1203Q	NM_007294	NP_009225		tolerated(1)	0,1,1	BRCA1_HUMAN	BRCA1	HGNC	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	Q9UE29_HUMAN,Q9NQR3_HUMAN,Q92897_HUMAN,Q7KYU6_HUMAN,Q4EW25_HUMAN,Q3YB53_HUMAN,Q3YB50_HUMAN,Q3YB49_HUMAN,Q3LRH8_HUMAN,Q3B891_HUMAN,K7EPC7_HUMAN,K4K7V3_HUMAN,K4JXS7_HUMAN,K4JUB1_HUMAN,G4V503_HUMAN,G4V502_HUMAN,G4V500_HUMAN,G4V4Z8_HUMAN,G4V4Z7_HUMAN,G1UI37_HUMAN,E9PFZ0_HUMAN,E7EWN5_HUMAN,E7EP70_HUMAN,C9IZW4_HUMAN,C4PFY7_HUMAN		10	3840	-		Breast(137;0.000717)	UPI0000126AC8	1203					SNV	BRCA1,missense_variant,p.Arg907Gln,ENST00000309486,NM_007297.3;BRCA1,missense_variant,p.Arg1203Gln,ENST00000357654,NM_007294.3;BRCA1,missense_variant,p.Arg1203Gln,ENST00000346315,;BRCA1,missense_variant,p.Arg1203Gln,ENST00000354071,;BRCA1,missense_variant,p.Arg1203Gln,ENST00000471181,NM_007300.3;BRCA1,missense_variant,p.Arg1156Gln,ENST00000493795,;BRCA1,intron_variant,,ENST00000352993,;BRCA1,intron_variant,,ENST00000351666,;BRCA1,intron_variant,,ENST00000468300,NM_007299.3;BRCA1,intron_variant,,ENST00000491747,NM_007298.3;BRCA1,intron_variant,,ENST00000478531,;BRCA1,intron_variant,,ENST00000493919,;BRCA1,intron_variant,,ENST00000484087,;BRCA1,intron_variant,,ENST00000591534,;BRCA1,intron_variant,,ENST00000487825,;BRCA1,intron_variant,,ENST00000586385,;BRCA1,intron_variant,,ENST00000591849,;BRCA1,downstream_gene_variant,,ENST00000470026,;BRCA1,downstream_gene_variant,,ENST00000477152,;BRCA1,downstream_gene_variant,,ENST00000494123,;BRCA1,downstream_gene_variant,,ENST00000473961,;BRCA1,downstream_gene_variant,,ENST00000497488,;BRCA1,downstream_gene_variant,,ENST00000476777,;BRCA1,upstream_gene_variant,,ENST00000461574,;BRCA1,3_prime_UTR_variant,,ENST00000461221,;BRCA1,non_coding_transcript_exon_variant,,ENST00000467274,;BRCA1,downstream_gene_variant,,ENST00000492859,;BRCA1,downstream_gene_variant,,ENST00000412061,;	uc002icq.2	c.3608G>A	3727/7094	2	2			c.3608G>A	D|Mis|N|F|S			breast|ovarian	ovarian	17	SNP	c.(3607-3609)CGA>CAA	32	32			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52	Broad	breast cancer 1, early onset isoform 1	Homologous_recombination		41243940	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	0.433	ENSG00000012048	1465	g.chr17:41243940C>T	androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			296			296	146.251616	KEEP	18	26	-1	11	7	18	26	-1	149.039052	11	7	0.728814	1	0	0	0	0	1	0	0	0	--	--	TCGA Ovarian(2;0.000030)	0	T			BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.R1132Q|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.R1156Q|BRCA1_uc002ict.2_Missense_Mutation_p.R1203Q|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.R1203Q|BRCA1_uc002ide.1_Missense_Mutation_p.R1034Q|BRCA1_uc010cyy.1_Missense_Mutation_p.R1203Q|BRCA1_uc010whs.1_Missense_Mutation_p.R1203Q|BRCA1_uc010cyz.2_Missense_Mutation_p.R1156Q|BRCA1_uc010cza.2_Missense_Mutation_p.R1177Q|BRCA1_uc010wht.1_Missense_Mutation_p.R907Q	102	GBM-06-5858-TP	p.R1203Q	C	GGCCCCTCTTCGGTAACCCTG	NM_007294	NP_009225	41243940	P38398	BRCA1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	3840	-	T	T		Breast(137;0.000717)	Missense_Mutation	1203						
BRCA1	0	broad.mit.edu	GRCh37	17	41245683	41245683	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs56039126		TCGA-41-2575-01	TCGA-41-2575-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357654.3:c.1865C>T	p.Ala622Val	p.A622V	ENST00000357654	NM_007294.3	622	gCg/gTg	0	A:0		1			A	A/V	uc002icq.2	protein_coding		CCDS11453.1			1865/5592	D|Mis|N|F|S			breast|ovarian	ovarian	uncertain_significance,benign,likely_benign			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52	c.(1864-1866)GCG>GTG		Homologous_recombination	PIRSF_domain:PIRSF001734,hmmpanther:PTHR13763,hmmpanther:PTHR13763:SF0	breast cancer 1, early onset isoform 1			A:0.0001	ENSP00000350283		23-Oct	4.94E-05			0.000116		7.50E-05			rs56039126,COSM979742,COSM3387920	23-Oct	.	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	ENST00000357654	Transcript	1		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000012048	g.chr17:41245683G>A	1100			MODERATE		3.65	high	getma.org/?cm=msa&ty=f&p=BRCA1_HUMAN&rb=509&re=647&var=A622V	NA	getma.org/?cm=var&var=hg19,17,41245683,G,A&fts=all	A622V	--	--	1				TCGA Ovarian(2;0.000030)																														BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.A551V|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.A575V|BRCA1_uc002ict.2_Missense_Mutation_p.A622V|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.A622V|BRCA1_uc002ide.1_Missense_Mutation_p.A453V|BRCA1_uc010cyy.1_Missense_Mutation_p.A622V|BRCA1_uc010whs.1_Missense_Mutation_p.A622V|BRCA1_uc010cyz.2_Missense_Mutation_p.A575V|BRCA1_uc010cza.2_Missense_Mutation_p.A596V|BRCA1_uc010wht.1_Missense_Mutation_p.A326V	1,1,1			benign(0.105)	p.A622V	NM_007294	NP_009225		deleterious(0.04)	0,1,1	BRCA1_HUMAN	BRCA1	HGNC	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	Q9UE29_HUMAN,Q9NQR3_HUMAN,Q92897_HUMAN,Q7KYU6_HUMAN,Q4EW25_HUMAN,Q3YB53_HUMAN,Q3YB50_HUMAN,Q3YB49_HUMAN,Q3LRH8_HUMAN,Q3B891_HUMAN,K7EPC7_HUMAN,K4K7V3_HUMAN,K4JXS7_HUMAN,K4JUB1_HUMAN,G4V503_HUMAN,G4V502_HUMAN,G4V500_HUMAN,G4V4Z8_HUMAN,G4V4Z7_HUMAN,G1UI37_HUMAN,E9PFZ0_HUMAN,E7EWN5_HUMAN,E7EP70_HUMAN,C9IZW4_HUMAN,C4PFY7_HUMAN		10	2097	-		Breast(137;0.000717)	UPI0000126AC8	622					SNV	BRCA1,missense_variant,p.Ala326Val,ENST00000309486,NM_007297.3;BRCA1,missense_variant,p.Ala622Val,ENST00000357654,NM_007294.3;BRCA1,missense_variant,p.Ala622Val,ENST00000346315,;BRCA1,missense_variant,p.Ala622Val,ENST00000354071,;BRCA1,missense_variant,p.Ala622Val,ENST00000471181,NM_007300.3;BRCA1,missense_variant,p.Ala575Val,ENST00000493795,;BRCA1,missense_variant,p.Ala622Val,ENST00000470026,;BRCA1,missense_variant,p.Ala596Val,ENST00000477152,;BRCA1,intron_variant,,ENST00000352993,;BRCA1,intron_variant,,ENST00000351666,;BRCA1,intron_variant,,ENST00000468300,NM_007299.3;BRCA1,intron_variant,,ENST00000491747,NM_007298.3;BRCA1,intron_variant,,ENST00000478531,;BRCA1,intron_variant,,ENST00000493919,;BRCA1,intron_variant,,ENST00000484087,;BRCA1,intron_variant,,ENST00000591534,;BRCA1,intron_variant,,ENST00000487825,;BRCA1,intron_variant,,ENST00000586385,;BRCA1,intron_variant,,ENST00000591849,;BRCA1,downstream_gene_variant,,ENST00000494123,;BRCA1,downstream_gene_variant,,ENST00000473961,;BRCA1,downstream_gene_variant,,ENST00000497488,;BRCA1,downstream_gene_variant,,ENST00000476777,;BRCA1,upstream_gene_variant,,ENST00000461574,;BRCA1,missense_variant,p.Ala406Val,ENST00000412061,;BRCA1,3_prime_UTR_variant,,ENST00000461221,;BRCA1,non_coding_transcript_exon_variant,,ENST00000467274,;BRCA1,downstream_gene_variant,,ENST00000492859,;	uc002icq.2	c.1865C>T	1984/7094	2	2			c.1865C>T	D|Mis|N|F|S			breast|ovarian	ovarian	17	SNP	c.(1864-1866)GCG>GTG	41	41			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52	Broad	breast cancer 1, early onset isoform 1	Homologous_recombination		41245683	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	0.358	ENSG00000012048	1465	g.chr17:41245683G>A	androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			296			296	-57.257448	KEEP	2	3	-1	146	115	2	3	-1	7.94592	146	115	0.019841	1	0	0	0	0	1	0	0	0	--	--	TCGA Ovarian(2;0.000030)	0	A			BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.A551V|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.A575V|BRCA1_uc002ict.2_Missense_Mutation_p.A622V|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.A622V|BRCA1_uc002ide.1_Missense_Mutation_p.A453V|BRCA1_uc010cyy.1_Missense_Mutation_p.A622V|BRCA1_uc010whs.1_Missense_Mutation_p.A622V|BRCA1_uc010cyz.2_Missense_Mutation_p.A575V|BRCA1_uc010cza.2_Missense_Mutation_p.A596V|BRCA1_uc010wht.1_Missense_Mutation_p.A326V	253	GBM-41-2575-TP	p.A622V	G	TAGTTCAAGCGCATGAATATG	NM_007294	NP_009225	41245683	P38398	BRCA1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	2097	-	A	A		Breast(137;0.000717)	Missense_Mutation	622						
BRCA2	675	broad.mit.edu	GRCh37	13	32911000	32911000	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0879-01	TCGA-06-0879-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380152.3:c.2508T>C	p.Pro836=	p.P836=	ENST00000380152		836	ccT/ccC	0			1			C	P	uc001uub.1	protein_coding		CCDS9344.1			2508/10257	D|Mis|N|F|S			breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic				ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64	c.(2506-2508)CCT>CCC		Direct_reversal_of_damage|Homologous_recombination	hmmpanther:PTHR11289,hmmpanther:PTHR11289:SF0,PIRSF_domain:PIRSF002397	breast cancer 2, early onset				ENSP00000369497		27-Nov									COSM3399339,COSM3399338	27-Nov	.	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	ENST00000380152	Transcript	1		cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	ENSG00000139618	g.chr13:32911000T>C	1101			LOW								--	--	1				TCGA Ovarian(8;0.087)																															1,1				p.P836P	NM_000059	NP_000050			1,1	BRCA2_HUMAN	BRCA2	HGNC	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	Q9H4L3_HUMAN,Q8IU82_HUMAN,Q8IU77_HUMAN,Q8IU64_HUMAN,K4K7W0_HUMAN,K4JXT6_HUMAN,K4JTT2_HUMAN,E9PIQ1_HUMAN		11	2735	+		Lung SC(185;0.0262)	UPI00001FCBCC	836			Interaction with NPM1.		SNV	BRCA2,synonymous_variant,p.=,ENST00000544455,NM_000059.3;BRCA2,synonymous_variant,p.=,ENST00000380152,;BRCA2,downstream_gene_variant,,ENST00000530893,;	uc001uub.1	c.2508T>C	2741/10930	3	3			c.2508T>C	D|Mis|N|F|S			breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic	13	SNP	c.(2506-2508)CCT>CCC	7	7			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64	Broad	breast cancer 2, early onset	Direct_reversal_of_damage|Homologous_recombination		32911000	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	0.308	ENSG00000139618	1466	g.chr13:32911000T>C	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		677	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		677	-19.006979	KEEP	1	4	-1	49	79	1	4	-1	8.642084	49	79	0.034188	1	0	0	0	0	0	0	1	0	--	--	TCGA Ovarian(8;0.087)	0	C				75	GBM-06-0879-TP	p.P836P	T	TGTTGCCACCTGAAAAATACA	NM_000059	NP_000050	32911000	P51587	BRCA2_HUMAN	0		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	2735	+	C	C		Lung SC(185;0.0262)	Silent	836			Interaction with NPM1.			
BRCA2	675	broad.mit.edu	GRCh37	13	32937431	32937431	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs80359052	by1000genomes	TCGA-06-0939-01	TCGA-06-0939-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380152.3:c.8092G>A	p.Ala2698Thr	p.A2698T	ENST00000380152		2698	Gca/Aca	0		A:0	1	A:0		A	A/T	uc001uub.1	protein_coding		CCDS9344.1			8092/10257	D|Mis|N|F|S			breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic	uncertain_significance,likely_benign			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64	c.(8092-8094)GCA>ACA		Direct_reversal_of_damage|Homologous_recombination	hmmpanther:PTHR11289,hmmpanther:PTHR11289:SF0,Pfam_domain:PF09103,Gene3D:2.40.50.140,PIRSF_domain:PIRSF002397,Superfamily_domains:SSF50249	breast cancer 2, early onset		A:0		ENSP00000369497	A:0	18/27	3.29E-05	0.000192		0.000231					rs80359052,COSM3399345,COSM3399344	18/27	.	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	ENST00000380152	Transcript	1	A:0.0000	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	ENSG00000139618	g.chr13:32937431G>A	1101			MODERATE		-1.445	neutral	getma.org/?cm=msa&ty=f&p=BRCA2_HUMAN&rb=2670&re=2800&var=A2698T	getma.org/pdb.php?prot=BRCA2_HUMAN&from=2670&to=2800&var=A2698T	getma.org/?cm=var&var=hg19,13,32937431,G,A&fts=all	A2698T	--	--	1				TCGA Ovarian(8;0.087)																															1,1,1			benign(0.003)	p.A2698T	NM_000059	NP_000050	A:0	tolerated(1)	0,1,1	BRCA2_HUMAN	BRCA2	HGNC	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	Q9H4L3_HUMAN,Q8IU82_HUMAN,Q8IU77_HUMAN,Q8IU64_HUMAN,K4K7W0_HUMAN,K4JXT6_HUMAN,K4JTT2_HUMAN,E9PIQ1_HUMAN		18	8319	+		Lung SC(185;0.0262)	UPI00001FCBCC	2698					SNV	BRCA2,missense_variant,p.Ala2698Thr,ENST00000544455,NM_000059.3;BRCA2,missense_variant,p.Ala2698Thr,ENST00000380152,;	uc001uub.1	c.8092G>A	8325/10930	2	2			c.8092G>A	D|Mis|N|F|S			breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic	13	SNP	c.(8092-8094)GCA>ACA	24	24			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64	Broad	breast cancer 2, early onset	Direct_reversal_of_damage|Homologous_recombination		32937431	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	0.378	ENSG00000139618	1466	g.chr13:32937431G>A	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		677	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		677	-22.407038	KEEP	4	0	-1	58	62	4	0	-1	6.676688	58	62	0.032787	1	0	0	0	0	1	0	0	0	--	--	TCGA Ovarian(8;0.087)	0	A				78	GBM-06-0939-TP	p.A2698T	G	TTCATTGAGCGCAAATATATC	NM_000059	NP_000050	32937431	P51587	BRCA2_HUMAN	0		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	18	8319	+	A	A		Lung SC(185;0.0262)	Missense_Mutation	2698						
BRCA2	0	broad.mit.edu	GRCh37	13	32913746	32913746	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs80358749		TCGA-26-6174-01	TCGA-26-6174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380152.3:c.5254C>A	p.His1752Asn	p.H1752N	ENST00000380152		1752	Cat/Aat	0			1			A	H/N	uc001uub.1	protein_coding		CCDS9344.1			5254/10257	D|Mis|N|F|S			breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic				ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64	c.(5254-5256)CAT>AAT		Direct_reversal_of_damage|Homologous_recombination	Low_complexity_(Seg):seg,hmmpanther:PTHR11289,hmmpanther:PTHR11289:SF0,PIRSF_domain:PIRSF002397	breast cancer 2, early onset				ENSP00000369497		27-Nov									COSM3399341,COSM3399340	27-Nov	.	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	ENST00000380152	Transcript	1		cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	ENSG00000139618	g.chr13:32913746C>A	1101			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=BRCA2_HUMAN&rb=1699&re=1836&var=H1752N	NA	getma.org/?cm=var&var=hg19,13,32913746,C,A&fts=all	H1752N	--	--	1				TCGA Ovarian(8;0.087)																															1,1			possibly_damaging(0.738)	p.H1752N	NM_000059	NP_000050		deleterious(0.02)	1,1	BRCA2_HUMAN	BRCA2	HGNC	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	Q9H4L3_HUMAN,Q8IU82_HUMAN,Q8IU77_HUMAN,Q8IU64_HUMAN,K4K7W0_HUMAN,K4JXT6_HUMAN,K4JTT2_HUMAN,E9PIQ1_HUMAN		11	5481	+		Lung SC(185;0.0262)	UPI00001FCBCC	1752					SNV	BRCA2,missense_variant,p.His1752Asn,ENST00000544455,NM_000059.3;BRCA2,missense_variant,p.His1752Asn,ENST00000380152,;	uc001uub.1	c.5254C>A	5487/10930	1	1			c.5254C>A	D|Mis|N|F|S			breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic	13	SNP	c.(5254-5256)CAT>AAT	61	61			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64	Broad	breast cancer 2, early onset	Direct_reversal_of_damage|Homologous_recombination		32913746	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	0.308	ENSG00000139618	1466	g.chr13:32913746C>A	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		677	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		677	44.309976	KEEP	8	13	0.619047619	35	29	8	13	0.619047619	48.939347	35	29	0.24	1	0	0	0	0	1	0	0	0	--	--	TCGA Ovarian(8;0.087)	0	A				188	GBM-26-6174-TP	p.H1752N	C	CTATTCCTACCATTCTGATGA	NM_000059	NP_000050	32913746	P51587	BRCA2_HUMAN	0		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	5481	+	A	A		Lung SC(185;0.0262)	Missense_Mutation	1752						
BRCA2	0	broad.mit.edu	GRCh37	13	32914389	32914389	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs80358823		TCGA-27-2521-01	TCGA-27-2521-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380152.3:c.5897A>G	p.His1966Arg	p.H1966R	ENST00000380152		1966	cAt/cGt	0			1			G	H/R	uc001uub.1	protein_coding		CCDS9344.1			5897/10257	D|Mis|N|F|S			breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic	uncertain_significance,likely_benign			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64	c.(5896-5898)CAT>CGT		Direct_reversal_of_damage|Homologous_recombination	hmmpanther:PTHR11289,hmmpanther:PTHR11289:SF0,PIRSF_domain:PIRSF002397	breast cancer 2, early onset				ENSP00000369497		27-Nov	1.65E-05					1.50E-05		6.06E-05	rs80358823,COSM3399343,COSM3399342	27-Nov	.	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	ENST00000380152	Transcript	1		cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	ENSG00000139618	g.chr13:32914389A>G	1101			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=BRCA2_HUMAN&rb=1872&re=1970&var=H1966R	NA	getma.org/?cm=var&var=hg19,13,32914389,A,G&fts=all	H1966R	--	--	1				TCGA Ovarian(8;0.087)																															1,1,1			benign(0.001)	p.H1966R	NM_000059	NP_000050		deleterious(0.02)	0,1,1	BRCA2_HUMAN	BRCA2	HGNC	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	Q9H4L3_HUMAN,Q8IU82_HUMAN,Q8IU77_HUMAN,Q8IU64_HUMAN,K4K7W0_HUMAN,K4JXT6_HUMAN,K4JTT2_HUMAN,E9PIQ1_HUMAN		11	6124	+		Lung SC(185;0.0262)	UPI00001FCBCC	1966					SNV	BRCA2,missense_variant,p.His1966Arg,ENST00000544455,NM_000059.3;BRCA2,missense_variant,p.His1966Arg,ENST00000380152,;	uc001uub.1	c.5897A>G	6130/10930	3	3			c.5897A>G	D|Mis|N|F|S			breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic	13	SNP	c.(5896-5898)CAT>CGT	1	1			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64	Broad	breast cancer 2, early onset	Direct_reversal_of_damage|Homologous_recombination		32914389	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	0.358	ENSG00000139618	1466	g.chr13:32914389A>G	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		677	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		677	384.562428	KEEP	58	70	-1	78	63	58	70	-1	384.669714	78	63	0.477551	1	0	0	0	0	1	0	0	0	--	--	TCGA Ovarian(8;0.087)	0	G				200	GBM-27-2521-TP	p.H1966R	A	GGGAAGCTTCATAAGTCAGTC	NM_000059	NP_000050	32914389	P51587	BRCA2_HUMAN	0		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	6124	+	G	G		Lung SC(185;0.0262)	Missense_Mutation	1966						
BRCC3	0	broad.mit.edu	GRCh37	X	154344437	154344437	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-41-4097-01	TCGA-41-4097-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369462.1:c.729G>C	p.Glu243Asp	p.E243D	ENST00000369462	NM_024332.3	243	gaG/gaC	0			1			C	E/D	uc004fna.2	protein_coding	YES	CCDS56611.1			729/951									lung(3)|ovary(1)|large_intestine(1)|breast(1)	6	c.(727-729)GAG>GAC			hmmpanther:PTHR10410,hmmpanther:PTHR10410:SF2	BRCA1/BRCA2-containing complex, subunit 3				ENSP00000358474		12-Sep									COSM3406178	12-Sep	.		ENST00000369462	Transcript	1		double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	ENSG00000185515	g.chrX:154344437G>C	24185			MODERATE		2.025	medium	getma.org/?cm=msa&ty=f&p=BRCC3_HUMAN&rb=149&re=316&var=E243D	NA	getma.org/?cm=var&var=hg19,X,154344437,G,C&fts=all	E243D	--	--	1																																		BRCC3_uc004fnb.2_Missense_Mutation_p.E218D	1	1		probably_damaging(0.997)	p.E243D	NM_024332	NP_077308		deleterious(0.03)	1	BRCC3_HUMAN	BRCC3	HGNC	P46736	BRCC3_HUMAN					9	822	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		UPI0000126C8F	243					SNV	BRCC3,missense_variant,p.Glu243Asp,ENST00000369462,NM_024332.3;BRCC3,missense_variant,p.Glu218Asp,ENST00000330045,NM_001242640.1,NM_001018055.2;BRCC3,missense_variant,p.Glu219Asp,ENST00000340647,;BRCC3,missense_variant,p.Glu243Asp,ENST00000399042,;BRCC3,missense_variant,p.Glu219Asp,ENST00000411985,;BRCC3,intron_variant,,ENST00000369459,;MTCP1,intron_variant,,ENST00000362018,;MTCP1,intron_variant,,ENST00000476116,;BRCC3,3_prime_UTR_variant,,ENST00000453705,;	uc004fna.2	c.729G>C	754/2846	3	3			c.729G>C						23	SNP	c.(727-729)GAG>GAC	56	56			lung(3)|ovary(1)|large_intestine(1)|breast(1)	6	Broad	BRCA1/BRCA2-containing complex, subunit 3			154344437		0.333	ENSG00000185515	1467	g.chrX:154344437G>C	double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			82			82	0.222925	KEEP	2	0	-1	11	18	2	0	-1	6.333885	11	18	0.064516	1	0	0	0	0	1	0	0	0	--	--		0	C			BRCC3_uc004fnb.2_Missense_Mutation_p.E218D	257	GBM-41-4097-TP	p.E243D	G	GCCAGGAGGAGCAGGATGCGT	NM_024332	NP_077308	154344437	P46736	BRCC3_HUMAN	0			9	822	+	C	C	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		Missense_Mutation	243						
BRD3	0	broad.mit.edu	GRCh37	9	136913570	136913570	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4934-01	TCGA-76-4934-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303407.7:c.721G>A	p.Gly241Ser	p.G241S	ENST00000303407	NM_007371.3	241	Ggc/Agc	0			1			T	G/S	uc004cew.2	protein_coding	YES	CCDS6980.1			721/2181	T		NUT|C15orf55		lethal midline carcinoma of young people		BRD3/C15orf55(3)		stomach(4)|midline_organs(3)|kidney(1)	8	c.(721-723)GGC>AGC			Low_complexity_(Seg):seg,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF126	bromodomain containing protein 3				ENSP00000305918		12-Jun									COSM3413433,COSM3413434	12-Jun	.		ENST00000303407	Transcript				nucleus	protein binding	ENSG00000169925	g.chr9:136913570C>T	1104			MODERATE		2.53	medium	getma.org/?cm=msa&ty=f&p=BRD3_HUMAN&rb=129&re=314&var=G241S	NA	getma.org/?cm=var&var=hg19,9,136913570,C,T&fts=all	G241S	--	--	1																																		BRD3_uc004cex.2_Missense_Mutation_p.G241S	1,1	1		probably_damaging(0.986)	p.G241S	NM_007371	NP_031397		tolerated(0.1)	1,1	BRD3_HUMAN	BRD3	HGNC	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	B4DS09_HUMAN,A9J575_HUMAN,A9J571_HUMAN		6	909	-			UPI0000126ACD	241					SNV	BRD3,missense_variant,p.Gly241Ser,ENST00000303407,NM_007371.3;BRD3,missense_variant,p.Gly241Ser,ENST00000371834,;BRD3,missense_variant,p.Gly241Ser,ENST00000357885,;BRD3,downstream_gene_variant,,ENST00000433041,;BRD3,downstream_gene_variant,,ENST00000371842,;BRD3,non_coding_transcript_exon_variant,,ENST00000494743,;	uc004cew.2	c.721G>A	907/5652	1	1			c.721G>A	T		NUT|C15orf55		lethal midline carcinoma of young people	9	SNP	c.(721-723)GGC>AGC	2	2	BRD3/C15orf55(3)		stomach(4)|midline_organs(3)|kidney(1)	8	Broad	bromodomain containing protein 3			136913570		0.627	ENSG00000169925	1470	g.chr9:136913570C>T		nucleus	protein binding			497			497	234.016486	KEEP	39	43	-1	70	56	39	43	-1	235.590114	70	56	0.40404	1	0	0	0	0	1	0	0	0	--	--		0	T			BRD3_uc004cex.2_Missense_Mutation_p.G241S	272	GBM-76-4934-TP	p.G241S	C	CGCTTCACGCCCTTTTTCTGC	NM_007371	NP_031397	136913570	Q15059	BRD3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	6	909	-	T	T			Missense_Mutation	241						
BRD3	8019		GRCh37	9	136918434	136918434	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000303407.7:c.166G>A	p.Ala56Thr	p.A56T	ENST00000303407	NM_007371.3	56	Gcc/Acc	0																																																																																																																																																																																																																																												
BRD4	23476	broad.mit.edu	GRCh37	19	15374294	15374294	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0190-01	TCGA-06-0190-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263377.2:c.1278C>A	p.Phe426Leu	p.F426L	ENST00000263377	NM_058243.2	426	ttC/ttA	0			1			T	F/L	uc002nar.2	protein_coding	YES	CCDS12328.1			1278/4089	T		NUT|C15orf55		lethal midline carcinoma of young people				ovary(2)	2	c.(1276-1278)TTC>TTA			Prints_domain:PR00503,Superfamily_domains:SSF47370,SMART_domains:SM00297,Pfam_domain:PF00439,Gene3D:1.20.920.10,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF143,PROSITE_profiles:PS50014	bromodomain-containing protein 4 isoform long				ENSP00000263377		20-Jul									COSM3403856,COSM3403854,COSM3403855	20-Jul	.		ENST00000263377	Transcript			interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	ENSG00000141867	g.chr19:15374294G>T	13575			MODERATE		2.35	medium	getma.org/?cm=msa&ty=f&p=BRD4_HUMAN&rb=357&re=445&var=F426L	getma.org/pdb.php?prot=BRD4_HUMAN&from=357&to=445&var=F426L	getma.org/?cm=var&var=hg19,19,15374294,G,T&fts=all	F426L	--	--	1																																		BRD4_uc002nas.2_Missense_Mutation_p.F426L|BRD4_uc002nat.3_Missense_Mutation_p.F426L|BRD4_uc002nau.3_Missense_Mutation_p.F426L	1,1,1	1		benign(0.418)	p.F426L	NM_058243	NP_490597			1,1,1	BRD4_HUMAN	BRD4	HGNC	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		Q96HN0_HUMAN,M0R0H4_HUMAN,M0QZD9_HUMAN		7	1500	-			UPI0000126ACE	426			Bromo 2.		SNV	BRD4,missense_variant,p.Phe426Leu,ENST00000263377,NM_058243.2;BRD4,missense_variant,p.Phe426Leu,ENST00000371835,NM_014299.2;BRD4,missense_variant,p.Phe426Leu,ENST00000360016,;BRD4,missense_variant,p.Phe426Leu,ENST00000594841,;BRD4,non_coding_transcript_exon_variant,,ENST00000602230,;BRD4,downstream_gene_variant,,ENST00000601071,;BRD4,downstream_gene_variant,,ENST00000597315,;	uc002nar.2	c.1278C>A	1500/5852	2	2			c.1278C>A	T		NUT|C15orf55		lethal midline carcinoma of young people	19	SNP	c.(1276-1278)TTC>TTA	28	28			ovary(2)	2	Broad	bromodomain-containing protein 4 isoform long			15374294		0.562	ENSG00000141867	1471	g.chr19:15374294G>T	interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			269			269	-9.808201	KEEP	4	5	0.444444444	65	60	4	5	0.444444444	14.654518	65	60	0.064516	1	0	0	0	0	1	0	0	0	--	--		0	T			BRD4_uc002nas.2_Missense_Mutation_p.F426L|BRD4_uc002nat.3_Missense_Mutation_p.F426L|BRD4_uc002nau.3_Missense_Mutation_p.F426L	43	GBM-06-0190-TP	p.F426L	G	AGCAGTTGGAGAACATCAATC	NM_058243	NP_490597	15374294	O60885	BRD4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		7	1500	-	T	T			Missense_Mutation	426			Bromo 2.			
BRD8	10902	broad.mit.edu	GRCh37	5	137502312	137502312	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0211-01	TCGA-06-0211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254900.5:c.892C>T	p.Pro298Ser	p.P298S	ENST00000254900	NM_139199.1	298	Cca/Tca	0			1			A	P/S	uc003lcf.1	protein_coding	YES	CCDS4198.1			892/3708									ovary(1)	1	c.(892-894)CCA>TCA			hmmpanther:PTHR15398,hmmpanther:PTHR15398:SF1,Low_complexity_(Seg):seg	bromodomain containing 8 isoform 2				ENSP00000254900		27-Oct									COSM3409756,COSM3409757	27-Oct	.		ENST00000254900	Transcript			cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	ENSG00000112983	g.chr5:137502312G>A	19874			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=BRD8_HUMAN&rb=46&re=700&var=P298S	NA	getma.org/?cm=var&var=hg19,5,137502312,G,A&fts=all	P298S	--	--	1																																		BRD8_uc003lcc.1_Intron|BRD8_uc011cyl.1_Missense_Mutation_p.P77S|BRD8_uc003lcg.2_Missense_Mutation_p.P371S|BRD8_uc003lci.2_Intron|BRD8_uc003lch.2_Intron|BRD8_uc011cym.1_Missense_Mutation_p.P282S|BRD8_uc010jer.1_Intron|BRD8_uc011cyn.1_Missense_Mutation_p.P257S	1,1	1		benign(0.267)	p.P298S	NM_139199	NP_631938		tolerated(0.25)	1,1	BRD8_HUMAN	BRD8	HGNC	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		F8WDX5_HUMAN,F8WBH2_HUMAN		10	947	-			UPI0000246C01	298					SNV	BRD8,missense_variant,p.Pro298Ser,ENST00000254900,NM_139199.1;BRD8,missense_variant,p.Pro371Ser,ENST00000230901,NM_006696.3;BRD8,missense_variant,p.Pro298Ser,ENST00000402931,;BRD8,missense_variant,p.Pro257Ser,ENST00000455658,;BRD8,intron_variant,,ENST00000454473,;BRD8,intron_variant,,ENST00000411594,NM_001164326.1;BRD8,intron_variant,,ENST00000418329,;BRD8,intron_variant,,ENST00000441656,;BRD8,intron_variant,,ENST00000453824,;BRD8,upstream_gene_variant,,ENST00000511898,;BRD8,downstream_gene_variant,,ENST00000430331,;BRD8,upstream_gene_variant,,ENST00000515014,;BRD8,downstream_gene_variant,,ENST00000425764,;BRD8,3_prime_UTR_variant,,ENST00000512140,;BRD8,non_coding_transcript_exon_variant,,ENST00000463620,;BRD8,upstream_gene_variant,,ENST00000506167,;BRD8,downstream_gene_variant,,ENST00000432618,;BRD8,downstream_gene_variant,,ENST00000428808,;BRD8,downstream_gene_variant,,ENST00000471892,;BRD8,downstream_gene_variant,,ENST00000450756,;BRD8,downstream_gene_variant,,ENST00000515254,;BRD8,upstream_gene_variant,,ENST00000489351,;BRD8,upstream_gene_variant,,ENST00000483805,;	uc003lcf.1	c.892C>T	1264/4388	2	2			c.892C>T						5	SNP	c.(892-894)CCA>TCA	45	45			ovary(1)	1	Broad	bromodomain containing 8 isoform 2			137502312		0.537	ENSG00000112983	1473	g.chr5:137502312G>A	cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity							-4.910059	KEEP	4	0	-1	29	26	4	0	-1	6.578617	29	26	0.054545	1	0	0	0	0	1	0	0	0	--	--		0	A			BRD8_uc003lcc.1_Intron|BRD8_uc011cyl.1_Missense_Mutation_p.P77S|BRD8_uc003lcg.2_Missense_Mutation_p.P371S|BRD8_uc003lci.2_Intron|BRD8_uc003lch.2_Intron|BRD8_uc011cym.1_Missense_Mutation_p.P282S|BRD8_uc010jer.1_Intron|BRD8_uc011cyn.1_Missense_Mutation_p.P257S	48	GBM-06-0211-TP	p.P298S	G	ACAGGGGGTGGCACAAGTTTA	NM_139199	NP_631938	137502312	Q9H0E9	BRD8_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		10	947	-	A	A			Missense_Mutation	298						
BRD8	10902		GRCh37	5	137485483	137485483	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000254900.5:c.3124G>A	p.Glu1042Lys	p.E1042K	ENST00000254900	NM_139199.1	1042	Gag/Aag	0																																																																																																																																																																																																																																												
BRDT	676	broad.mit.edu	GRCh37	1	92479806	92479806	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0879-01	TCGA-06-0879-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000362005.3:c.2819C>A	p.Thr940Lys	p.T940K	ENST00000362005	NM_001242805.1	940	aCa/aAa	0			1			A	T/K	uc001dok.3	protein_coding	YES	CCDS735.1			2819/2844									stomach(2)|ovary(1)|lung(1)	4	c.(2818-2820)ACA>AAA				testis-specific bromodomain protein				ENSP00000354568		20/20									COSM2152322	20/20	.		ENST00000362005	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	ENSG00000137948	g.chr1:92479806C>A	1105			MODERATE		1.52	low	getma.org/?cm=msa&ty=f&p=BRDT_HUMAN&rb=765&re=947&var=T940K	NA	getma.org/?cm=var&var=hg19,1,92479806,C,A&fts=all	T940K	--	--	1																																		BRDT_uc001dol.3_Missense_Mutation_p.T940K|BRDT_uc010osz.1_Missense_Mutation_p.T944K|BRDT_uc009wdf.2_Missense_Mutation_p.T867K|BRDT_uc010ota.1_Missense_Mutation_p.T894K|BRDT_uc010otb.1_Missense_Mutation_p.T894K|BRDT_uc001dom.3_Missense_Mutation_p.T940K	1	1		benign(0.282)	p.T940K	NM_207189	NP_997072		deleterious(0.01)	1	BRDT_HUMAN	BRDT	HGNC	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	F8W0H2_HUMAN,F8VZ63_HUMAN,C9JQ27_HUMAN,C9JMP1_HUMAN,C9JLZ2_HUMAN,C9JJU3_HUMAN,C9JDL5_HUMAN,C9JD82_HUMAN,C9J1F7_HUMAN		19	3168	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	UPI000013D0E1	940					SNV	BRDT,missense_variant,p.Thr867Lys,ENST00000370389,NM_001242810.1;BRDT,missense_variant,p.Thr940Lys,ENST00000362005,NM_001242805.1;BRDT,missense_variant,p.Thr940Lys,ENST00000399546,NM_001242806.1,NM_207189.2;BRDT,missense_variant,p.Thr940Lys,ENST00000402388,NM_001726.3;BRDT,missense_variant,p.Thr894Lys,ENST00000394530,NM_001242808.1,NM_001242807.1;	uc001dok.3	c.2819C>A	3237/3409	2	2			c.2819C>A						1	SNP	c.(2818-2820)ACA>AAA	43	43			stomach(2)|ovary(1)|lung(1)	4	Broad	testis-specific bromodomain protein			92479806		0.269	ENSG00000137948	1475	g.chr1:92479806C>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			576			576	63.390998	KEEP	8	14	0.636363636	17	15	8	14	0.636363636	63.752101	17	15	0.408163	1	0	0	0	0	1	0	0	0	--	--		0	A			BRDT_uc001dol.3_Missense_Mutation_p.T940K|BRDT_uc010osz.1_Missense_Mutation_p.T944K|BRDT_uc009wdf.2_Missense_Mutation_p.T867K|BRDT_uc010ota.1_Missense_Mutation_p.T894K|BRDT_uc010otb.1_Missense_Mutation_p.T894K|BRDT_uc001dom.3_Missense_Mutation_p.T940K	75	GBM-06-0879-TP	p.T940K	C	GACATTATGACAATGTTTGAA	NM_207189	NP_997072	92479806	Q58F21	BRDT_HUMAN	0		all cancers(265;0.0228)|Epithelial(280;0.133)	19	3168	+	A	A		all_lung(203;0.00531)|Lung NSC(277;0.0194)	Missense_Mutation	940						
BRDT	0	broad.mit.edu	GRCh37	1	92442915	92442915	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs142308966		TCGA-76-6192-01	TCGA-76-6192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000362005.3:c.934G>A	p.Val312Ile	p.V312I	ENST00000362005	NM_001242805.1	312	Gtt/Att	0			1			A	V/I	uc001dok.3	protein_coding	YES	CCDS735.1			934/2844									stomach(2)|ovary(1)|lung(1)	4	c.(934-936)GTT>ATT			PROSITE_profiles:PS50014,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF133,PROSITE_patterns:PS00633,Pfam_domain:PF00439,Gene3D:1.20.920.10,SMART_domains:SM00297,Superfamily_domains:SSF47370	testis-specific bromodomain protein				ENSP00000354568		20-Jul									COSM171492	20-Jul	.		ENST00000362005	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	ENSG00000137948	g.chr1:92442915G>A	1105			MODERATE		-0.5	neutral	getma.org/?cm=msa&ty=f&p=BRDT_HUMAN&rb=276&re=364&var=V312I	getma.org/pdb.php?prot=BRDT_HUMAN&from=276&to=364&var=V312I	getma.org/?cm=var&var=hg19,1,92442915,G,A&fts=all	V312I	--	--	1																																		BRDT_uc001dol.3_Missense_Mutation_p.V312I|BRDT_uc010osz.1_Missense_Mutation_p.V316I|BRDT_uc009wdf.2_Missense_Mutation_p.V239I|BRDT_uc010ota.1_Missense_Mutation_p.V266I|BRDT_uc010otb.1_Missense_Mutation_p.V266I|BRDT_uc001dom.3_Missense_Mutation_p.V312I	1	1		benign(0)	p.V312I	NM_207189	NP_997072		tolerated(1)	1	BRDT_HUMAN	BRDT	HGNC	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	F8W0H2_HUMAN,F8VZ63_HUMAN,C9JQ27_HUMAN,C9JMP1_HUMAN,C9JLZ2_HUMAN,C9JJU3_HUMAN,C9JDL5_HUMAN,C9JD82_HUMAN,C9J1F7_HUMAN		6	1283	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	UPI000013D0E1	312			Bromo 2.		SNV	BRDT,missense_variant,p.Val239Ile,ENST00000370389,NM_001242810.1;BRDT,missense_variant,p.Val312Ile,ENST00000362005,NM_001242805.1;BRDT,missense_variant,p.Val312Ile,ENST00000399546,NM_001242806.1,NM_207189.2;BRDT,missense_variant,p.Val312Ile,ENST00000402388,NM_001726.3;BRDT,missense_variant,p.Val266Ile,ENST00000394530,NM_001242808.1,NM_001242807.1;BRDT,missense_variant,p.Val312Ile,ENST00000426141,;BRDT,downstream_gene_variant,,ENST00000427104,;BRDT,downstream_gene_variant,,ENST00000440509,;BRDT,downstream_gene_variant,,ENST00000423434,;BRDT,downstream_gene_variant,,ENST00000448194,;BRDT,non_coding_transcript_exon_variant,,ENST00000484781,;	uc001dok.3	c.934G>A	1352/3409	1	1			c.934G>A						1	SNP	c.(934-936)GTT>ATT	50	50			stomach(2)|ovary(1)|lung(1)	4	Broad	testis-specific bromodomain protein			92442915		0.284	ENSG00000137948	1475	g.chr1:92442915G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			576			576	-14.891647	KEEP	4	7	-1	57	92	4	7	-1	13.796455	57	92	0.051852	1	0	0	0	0	1	0	0	0	--	--		0	A			BRDT_uc001dol.3_Missense_Mutation_p.V312I|BRDT_uc010osz.1_Missense_Mutation_p.V316I|BRDT_uc009wdf.2_Missense_Mutation_p.V239I|BRDT_uc010ota.1_Missense_Mutation_p.V266I|BRDT_uc010otb.1_Missense_Mutation_p.V266I|BRDT_uc001dom.3_Missense_Mutation_p.V312I	275	GBM-76-6192-TP	p.V312I	G	CTACTATGACGTTGTCAAAAA	NM_207189	NP_997072	92442915	Q58F21	BRDT_HUMAN	0		all cancers(265;0.0228)|Epithelial(280;0.133)	6	1283	+	A	A		all_lung(203;0.00531)|Lung NSC(277;0.0194)	Missense_Mutation	312			Bromo 2.			
BRF2	0	broad.mit.edu	GRCh37	8	37704528	37704528	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01	TCGA-19-5951-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000220659.6:c.380G>A	p.Arg127Gln	p.R127Q	ENST00000220659	NM_018310.3	127	cGa/cAa	0			1			T	R/Q	uc003xkk.2	protein_coding	YES	CCDS6098.1			380/1260										0	c.(379-381)CGA>CAA			Superfamily_domains:SSF47954,Gene3D:1.10.472.10,hmmpanther:PTHR11618:SF5,hmmpanther:PTHR11618	RNA polymerase III transcription initiation				ENSP00000220659		4-Mar	1.65E-05					3.00E-05			rs746089287,COSM3412997	4-Mar	.		ENST00000220659	Transcript			regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding	ENSG00000104221	g.chr8:37704528C>T	17298			MODERATE		2.005	medium	getma.org/?cm=msa&ty=f&p=BRF2_HUMAN&rb=43&re=242&var=R127Q	getma.org/pdb.php?prot=BRF2_HUMAN&from=43&to=242&var=R127Q	getma.org/?cm=var&var=hg19,8,37704528,C,T&fts=all	R127Q	--	--	1																																			0,1	1		probably_damaging(0.999)	p.R127Q	NM_018310	NP_060780		deleterious(0)	0,1	BRF2_HUMAN	BRF2	HGNC	Q9HAW0	BRF2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)				3	490	-		Lung NSC(58;0.118)|all_lung(54;0.195)	UPI000006D405	127			1		SNV	BRF2,missense_variant,p.Arg127Gln,ENST00000220659,NM_018310.3;BRF2,missense_variant,p.Arg127Gln,ENST00000520601,;BRF2,3_prime_UTR_variant,,ENST00000521170,;GPR124,downstream_gene_variant,,ENST00000315215,;GPR124,downstream_gene_variant,,ENST00000412232,NM_032777.9;BRF2,downstream_gene_variant,,ENST00000522539,;	uc003xkk.2	c.380G>A	501/2603	1	1			c.380G>A						8	SNP	c.(379-381)CGA>CAA	2	2				0	Broad	RNA polymerase III transcription initiation			37704528		0.527	ENSG00000104221	1478	g.chr8:37704528C>T	regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			145			145	50.687299	KEEP	17	23	-1	127	143	17	23	-1	85.526523	127	143	0.132075	1	0	0	0	0	1	0	0	0	--	--		0	T				171	GBM-19-5951-TP	p.R127Q	C	GTTATGCTGTCGGCAGGTGAT	NM_018310	NP_060780	37704528	Q9HAW0	BRF2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)		3	490	-	T	T		Lung NSC(58;0.118)|all_lung(54;0.195)	Missense_Mutation	127			1			
BRINP1	0	broad.mit.edu	GRCh37	9	122000991	122000991	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-76-6191-01	TCGA-76-6191-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265922.3:c.627T>C	p.Asn209=	p.N209=	ENST00000265922	NM_014618.2	209	aaT/aaC	0			1			G	N	uc004bkc.2	protein_coding	YES	CCDS6822.1			627/2286									skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8	c.(625-627)AAT>AAC			hmmpanther:PTHR15564,hmmpanther:PTHR15564:SF7,SMART_domains:SM00457	deleted in bladder cancer 1 precursor				ENSP00000265922		8-May									COSM1624482,COSM3664046	8-May	.		ENST00000265922	Transcript			cell cycle arrest|cell death	cytoplasm	protein binding	ENSG00000078725	g.chr9:122000991A>G	2687			LOW								--	--	1																																		DBC1_uc004bkd.2_Silent_p.N209N	1,1	1			p.N209N	NM_014618	NP_055433			1,1	BRNP1_HUMAN	BRINP1	HGNC	O60477	DBC1_HUMAN			B4DE75_HUMAN		5	1083	-			UPI000013D6A7	209			MACPF.		SNV	BRINP1,synonymous_variant,p.=,ENST00000265922,NM_014618.2;BRINP1,synonymous_variant,p.=,ENST00000373964,;	uc004bkc.2	c.627T>C	1089/3202	3	3			c.627T>C						9	SNP	c.(625-627)AAT>AAC	3	3			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8	Broad	deleted in bladder cancer 1 precursor			122000991		0.507	ENSG00000078725	4172	g.chr9:122000991A>G	cell cycle arrest|cell death	cytoplasm	protein binding							84.098541	KEEP	13	16	-1	22	12	13	16	-1	84.200617	22	12	0.45283	1	0	0	0	0	0	0	1	0	--	--		0	G			DBC1_uc004bkd.2_Silent_p.N209N	274	GBM-76-6191-TP	p.N209N	A	CAGAGTCCAGATTGTCATAGC	NM_014618	NP_055433	122000991	O60477	DBC1_HUMAN	0			5	1083	-	G	G			Silent	209			MACPF.			
BRINP3	0	broad.mit.edu	GRCh37	1	190234152	190234152	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01	TCGA-26-5132-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367462.3:c.461G>A	p.Arg154Gln	p.R154Q	ENST00000367462	NM_199051.1	154	cGg/cAg	0	T:0		1			T	R/Q	uc001gse.1	protein_coding	YES	CCDS1373.1			461/2301									lung(2)|ovary(1)|kidney(1)|skin(1)	5	c.(460-462)CGG>CAG			Pfam_domain:PF01823,hmmpanther:PTHR15564,hmmpanther:PTHR15564:SF2,SMART_domains:SM00457	family with sequence similarity 5, member C			T:0.0001	ENSP00000356432		8-Apr									rs369089898,COSM2156936	8-Apr	.		ENST00000367462	Transcript				extracellular region		ENSG00000162670	g.chr1:190234152C>T	22393			MODERATE		1.155	low	getma.org/?cm=msa&ty=f&p=FAM5C_HUMAN&rb=52&re=199&var=R154Q	NA	getma.org/?cm=var&var=hg19,1,190234152,C,T&fts=all	R154Q	--	--	1																																		FAM5C_uc010pot.1_Missense_Mutation_p.R52Q	0,1	1		benign(0.009)	p.R154Q	NM_199051	NP_950252		tolerated(0.21)	0,1	BRNP3_HUMAN	BRINP3	HGNC	Q76B58	FAM5C_HUMAN					4	693	-	Prostate(682;0.198)		UPI00001C1D9A	154					SNV	BRINP3,missense_variant,p.Arg154Gln,ENST00000367462,NM_199051.1;BRINP3,missense_variant,p.Arg52Gln,ENST00000534846,;RP11-547I7.1,non_coding_transcript_exon_variant,,ENST00000452178,;	uc001gse.1	c.461G>A	693/2889	1	1			c.461G>A						1	SNP	c.(460-462)CGG>CAG	16	16			lung(2)|ovary(1)|kidney(1)|skin(1)	5	Broad	family with sequence similarity 5, member C			190234152		0.388	ENSG00000162670	5498	g.chr1:190234152C>T		extracellular region								184.168521	KEEP	29	36	-1	42	65	29	36	-1	185.726003	42	65	0.392157	1	0	0	0	0	1	0	0	0	--	--		0	T			FAM5C_uc010pot.1_Missense_Mutation_p.R52Q	181	GBM-26-5132-TP	p.R154Q	C	GCTCAACTTCCGCTTGTCCAC	NM_199051	NP_950252	190234152	Q76B58	FAM5C_HUMAN	0			4	693	-	T	T	Prostate(682;0.198)		Missense_Mutation	154						
BRIP1	0	broad.mit.edu	GRCh37	17	59876469	59876469	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-15-1444-01	TCGA-15-1444-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259008.2:c.1332C>T	p.Ser444=	p.S444=	ENST00000259008	NM_032043.2	444	agC/agT	0		A:0	1	A:0		A	S	uc002izk.1	protein_coding	YES	CCDS11631.1			1332/3750	F|N|Mis			AML|leukemia|breast					ovary(1)	1	c.(1330-1332)AGC>AGT		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	hmmpanther:PTHR11472,hmmpanther:PTHR11472:SF6,TIGRFAM_domain:TIGR00604	BRCA1 interacting protein C-terminal helicase 1		A:0		ENSP00000259008	A:0.001	20-Sep	8.24E-06					1.50E-05			rs200581792,COSM3403079,COSM3403080	20-Sep	.	Fanconi_Anemia	ENST00000259008	Transcript	1	A:0.0002	DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	ENSG00000136492	g.chr17:59876469G>A	20473			LOW								--	--	1																																			0,1,1	1			p.S444S	NM_032043	NP_114432	A:0		0,1,1	FANCJ_HUMAN	BRIP1	HGNC	Q9BX63	FANCJ_HUMAN			J3KS24_HUMAN		9	1473	-			UPI000013D01F	444					SNV	BRIP1,synonymous_variant,p.=,ENST00000259008,NM_032043.2;BRIP1,synonymous_variant,p.=,ENST00000577598,;	uc002izk.1	c.1332C>T	1600/6048	2	2			c.1332C>T	F|N|Mis			AML|leukemia|breast		17	SNP	c.(1330-1332)AGC>AGT	34	34			ovary(1)	1	Broad	BRCA1 interacting protein C-terminal helicase 1	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks		59876469	Fanconi_Anemia	0.358	ENSG00000136492	1481	g.chr17:59876469G>A	DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			346			346	15.170075	KEEP	5	4	-1	16	28	5	4	-1	20.448564	16	28	0.163265	1	0	0	0	0	0	0	1	0	--	--		0	A				154	GBM-15-1444-TP	p.S444S	G	ACTTAATGAGGCTACAGCACA	NM_032043	NP_114432	59876469	Q9BX63	FANCJ_HUMAN	0			9	1473	-	A	A			Silent	444						
BRIP1	83990		GRCh37	17	59761146	59761147	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000259008.2:c.3260dup	p.Asn1087LysfsTer4	p.N1087Kfs*4	ENST00000259008	NM_032043.2	1087	aat/aaAt	0																																																																																																																																																																																																																																												
BRIX1	55299	broad.mit.edu	GRCh37	5	34924991	34924991	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-2558-01	TCGA-06-2558-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336767.5:c.703C>G	p.Arg235Gly	p.R235G	ENST00000336767	NM_018321.3	235	Cgt/Ggt	0			1			G	R/G	uc003jja.2	protein_coding	YES	CCDS34143.1			703/1062										0	c.(703-705)CGT>GGT			Pfam_domain:PF04427,PROSITE_profiles:PS50833,hmmpanther:PTHR13634,SMART_domains:SM00879,Superfamily_domains:SSF52954	BRIX				ENSP00000338862		10-Sep									COSM2152640	10-Sep	.		ENST00000336767	Transcript			ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding	ENSG00000113460	g.chr5:34924991C>G	24170			MODERATE		3.605	high	getma.org/?cm=msa&ty=f&p=BRX1_HUMAN&rb=64&re=243&var=R235G	NA	getma.org/?cm=var&var=hg19,5,34924991,C,G&fts=all	R235G	--	--	1																																			1	1		probably_damaging(0.995)	p.R235G	NM_018321	NP_060791		deleterious(0)	1	BRX1_HUMAN	BRIX1	HGNC	Q8TDN6	BRX1_HUMAN			Q9NUW4_HUMAN		9	727	+			UPI000007186B	235			Brix.		SNV	BRIX1,missense_variant,p.Arg235Gly,ENST00000336767,NM_018321.3;DNAJC21,upstream_gene_variant,,ENST00000382021,NM_194283.3;DNAJC21,upstream_gene_variant,,ENST00000303525,NM_001012339.2;DNAJC21,upstream_gene_variant,,ENST00000342382,;BRIX1,non_coding_transcript_exon_variant,,ENST00000506023,;BRIX1,non_coding_transcript_exon_variant,,ENST00000515798,;BRIX1,downstream_gene_variant,,ENST00000510834,;BRIX1,downstream_gene_variant,,ENST00000510960,;	uc003jja.2	c.703C>G	1066/1926	4	4			c.703C>G						5	SNP	c.(703-705)CGT>GGT	32	32				0	Broad	BRIX			34924991		0.358	ENSG00000113460	1482	g.chr5:34924991C>G	ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding							146.267417	KEEP	18	23	-1	35	40	18	23	-1	147.923668	35	40	0.369369	1	0	0	0	0	1	0	0	0	--	--		0	G				82	GBM-06-2558-TP	p.R235G	C	AATAGGACCTCGTTTTGTCTT	NM_018321	NP_060791	34924991	Q8TDN6	BRX1_HUMAN	0			9	727	+	G	G			Missense_Mutation	235			Brix.			
BRPF3	0	broad.mit.edu	GRCh37	6	36175096	36175096	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-12-3649-01	TCGA-12-3649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357641.6:c.1612delC	p.Gln538ArgfsTer8	p.Q538Rfs*8	ENST00000357641	NM_015695.2	538	Cag/ag	0			1			-	Q/X	uc003olv.3	protein_coding	YES	CCDS34437.1			1612/3618									ovary(1)|skin(1)	2	c.(1612-1614)CAGfs			hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF19	bromodomain and PHD finger containing, 3				ENSP00000350267		13-Apr										13-Apr	.		ENST00000357641	Transcript			histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	ENSG00000096070	g.chr6:36175096delC	14256			HIGH								--	--	1																																		BRPF3_uc010jwb.2_Frame_Shift_Del_p.Q538fs|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Frame_Shift_Del_p.Q538fs		1			p.Q538fs	NM_015695	NP_056510				BRPF3_HUMAN	BRPF3	HGNC	Q9ULD4	BRPF3_HUMAN			A8WI62_HUMAN,A8WI61_HUMAN		4	1836	+			UPI00001C1E4C	538					deletion	BRPF3,frameshift_variant,p.Gln538ArgfsTer8,ENST00000357641,NM_015695.2;BRPF3,frameshift_variant,p.Gln538ArgfsTer8,ENST00000339717,;BRPF3,frameshift_variant,p.Gln538ArgfsTer8,ENST00000543502,;BRPF3,frameshift_variant,p.Gln538ArgfsTer8,ENST00000443324,;BRPF3,frameshift_variant,p.Gln538ArgfsTer8,ENST00000534694,;BRPF3,frameshift_variant,p.Gln538ArgfsTer8,ENST00000534400,;BRPF3,frameshift_variant,p.Gln84ArgfsTer8,ENST00000527657,;BRPF3,frameshift_variant,p.Gln511ArgfsTer8,ENST00000441123,;BRPF3,frameshift_variant,p.Gln538ArgfsTer8,ENST00000449261,;BRPF3,frameshift_variant,p.Gln538ArgfsTer8,ENST00000532330,;BRPF3,upstream_gene_variant,,ENST00000441730,;BRPF3,upstream_gene_variant,,ENST00000532538,;	uc003olv.3	c.1612delC	1865/6052	5	5			c.1612delC						6	DEL	c.(1612-1614)CAGfs	51	51			ovary(1)|skin(1)	2	Broad	bromodomain and PHD finger containing, 3			36175096		0.547	ENSG00000096070	1488	g.chr6:36175096delC	histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding																				0.25	1	1	0	1	0	0	0	0	0	--	--		0	-			BRPF3_uc010jwb.2_Frame_Shift_Del_p.Q538fs|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Frame_Shift_Del_p.Q538fs	125	GBM-12-3649-TP	p.Q538fs	C	GTAGCGAGAGCAGGATGAGAA	NM_015695	NP_056510	36175096	Q9ULD4	BRPF3_HUMAN	0			4	1836	+	-	-			Frame_Shift_Del	538						
BRS3	680	broad.mit.edu	GRCh37	X	135570275	135570275	+	start_lost	Translation_Start_Site	SNP	T	T	G			TCGA-06-0125-01	TCGA-06-0125-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370648.3:c.2T>G	p.Met1?	p.M1?	ENST00000370648	NM_001727.1	1	aTg/aGg	0			1			G	M/R	uc004ezv.1	protein_coding	YES	CCDS14656.1			2/1200									ovary(1)	1	c.(1-3)ATG>AGG			hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF54	bombesin-like receptor 3				ENSP00000359682		3-Jan									COSM2149356	3-Jan	.		ENST00000370648	Transcript			adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity	ENSG00000102239	g.chrX:135570275T>G	1113			HIGH		0	NA	http://getma.org/?cm=msa&ty=f&p=BRS3_HUMAN&rb=1&re=63&var=M1R	NA	getma.org/?cm=var&var=hg19,X,135570275,T,G&fts=all	M1R	--	--	1																																			1	1		probably_damaging(0.983)	p.M1R	NM_001727	NP_001718		deleterious_low_confidence(0)	1	BRS3_HUMAN	BRS3	HGNC	P32247	BRS3_HUMAN					1	151	+	Acute lymphoblastic leukemia(192;0.000127)		UPI00000503EE	1			Extracellular (Potential).		SNV	BRS3,start_lost,p.Met1?,ENST00000370648,NM_001727.1;Z97632.1,downstream_gene_variant,,ENST00000580943,;	uc004ezv.1	c.2T>G	230/2833	3	3			c.2T>G						23	SNP	c.(1-3)ATG>AGG	11	11			ovary(1)	1	Broad	bombesin-like receptor 3			135570275		0.378	ENSG00000102239	1489	g.chrX:135570275T>G	adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity							104.156036	KEEP	18	16	-1	24	34	18	16	-1	106.047626	24	34	0.341176	1	0	0	0	0	1	0	0	0	--	--		0	G				12	GBM-06-0125-TP	p.M1R	T	TCAGAAGAAATGGCTCAAAGG	NM_001727	NP_001718	135570275	P32247	BRS3_HUMAN	0			1	151	+	G	G	Acute lymphoblastic leukemia(192;0.000127)		Missense_Mutation	1			Extracellular (Potential).			
BRSK1	0	broad.mit.edu	GRCh37	19	55814187	55814187	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-27-2519-01	TCGA-27-2519-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309383.1:c.980G>C	p.Gly327Ala	p.G327A	ENST00000309383	NM_032430.1	327	gGc/gCc	0			1			C	G/A	uc002qkg.2	protein_coding	YES	CCDS12921.1			980/2337								p.G327D(1)	ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6	c.(979-981)GGC>GCC			PROSITE_profiles:PS50030,hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF130	BR serine/threonine kinase 1				ENSP00000310649		19-Oct									COSM3404640,COSM3404641	19-Oct	.		ENST00000309383	Transcript			establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	ENSG00000160469	g.chr19:55814187G>C	18994			MODERATE		2.475	medium	getma.org/?cm=msa&ty=f&p=BRSK1_HUMAN&rb=314&re=356&var=G327A	NA	getma.org/?cm=var&var=hg19,19,55814187,G,C&fts=all	G327A	--	--	1																																		BRSK1_uc002qkf.2_Missense_Mutation_p.G343A|BRSK1_uc002qkh.2_Missense_Mutation_p.G22A	1,1	1		possibly_damaging(0.794)	p.G327A	NM_032430	NP_115806		deleterious(0.01)	1,1	BRSK1_HUMAN	BRSK1	HGNC	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	K7EM68_HUMAN,J3KNK0_HUMAN		10	1257	+		Renal(1328;0.245)	UPI0000070495	327	G->A: Abolishes activation of kinase activity.		UBA.		SNV	BRSK1,missense_variant,p.Gly327Ala,ENST00000309383,NM_032430.1;BRSK1,missense_variant,p.Gly343Ala,ENST00000590333,;BRSK1,missense_variant,p.Gly22Ala,ENST00000326848,;BRSK1,missense_variant,p.Gly327Ala,ENST00000585418,;BRSK1,missense_variant,p.Gly22Ala,ENST00000591774,;BRSK1,upstream_gene_variant,,ENST00000588584,;BRSK1,upstream_gene_variant,,ENST00000586626,;	uc002qkg.2	c.980G>C	1257/3079	3	3			c.980G>C						19	SNP	c.(979-981)GGC>GCC	60	60		p.G327D(1)	ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6	Broad	BR serine/threonine kinase 1			55814187		0.682	ENSG00000160469	1490	g.chr19:55814187G>C	establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			333			333	91.254275	KEEP	14	19	-1	16	22	14	19	-1	91.428498	16	22	0.444444	1	0	0	0	0	1	0	0	0	--	--		0	C			BRSK1_uc002qkf.2_Missense_Mutation_p.G343A|BRSK1_uc002qkh.2_Missense_Mutation_p.G22A	199	GBM-27-2519-TP	p.G327A	G	GCATCACTGGGCTGCTTCAGG	NM_032430	NP_115806	55814187	Q8TDC3	BRSK1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	10	1257	+	C	C		Renal(1328;0.245)	Missense_Mutation	327	G->A: Abolishes activation of kinase activity.		UBA.			
BRWD1	0	broad.mit.edu	GRCh37	21	40571510	40571510	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-16-1045-01	TCGA-16-1045-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333229.2:c.4832C>A	p.Ser1611Ter	p.S1611*	ENST00000333229	NM_018963.4	1611	tCa/tAa	0			1			T	S/*	uc002yxk.1	protein_coding	YES	CCDS13662.1			4832/6963									skin(3)|ovary(1)	4	c.(4831-4833)TCA>TAA			hmmpanther:PTHR16266,hmmpanther:PTHR16266:SF26	bromodomain and WD repeat domain containing 1				ENSP00000330753		40/42									COSM3405391,COSM3405390	40/42	.		ENST00000333229	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		ENSG00000185658	g.chr21:40571510G>T	12760			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,21,40571510,G,T&fts=all	S1611*	--	--	1																																OREG0003861	type=REGULATORY REGION|Gene=BRWD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	BRWD1_uc010goc.1_Nonsense_Mutation_p.S254*|BRWD1_uc002yxl.2_Nonsense_Mutation_p.S1611*	1,1	1			p.S1611*	NM_018963	NP_061836			1,1	BRWD1_HUMAN	BRWD1	HGNC	Q9NSI6	BRWD1_HUMAN					40	4971	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	UPI0000163C12	1611					SNV	BRWD1,stop_gained,p.Ser1611Ter,ENST00000342449,NM_033656.3;BRWD1,stop_gained,p.Ser1611Ter,ENST00000333229,NM_018963.4;BRWD1,stop_gained,p.Ser1611Ter,ENST00000380800,;BRWD1,downstream_gene_variant,,ENST00000424441,;BRWD1,3_prime_UTR_variant,,ENST00000446924,;BRWD1,non_coding_transcript_exon_variant,,ENST00000491564,;	uc002yxk.1	c.4832C>A	5160/10141	5	1			c.4832C>A						21	SNP	c.(4831-4833)TCA>TAA	5	5			skin(3)|ovary(1)	4	Broad	bromodomain and WD repeat domain containing 1			40571510		0.378	ENSG00000185658	1492	g.chr21:40571510G>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		Melanoma(170;988 1986 4794 16843 39731)			Melanoma(170;988 1986 4794 16843 39731)			252.987537	KEEP	40	57	0.412371134	90	86	40	57	0.412371134	257.783258	90	86	0.353175	1	0	0	0	0	0	1	0	0	--	--		0	T	OREG0003861	type=REGULATORY REGION|Gene=BRWD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	BRWD1_uc010goc.1_Nonsense_Mutation_p.S254*|BRWD1_uc002yxl.2_Nonsense_Mutation_p.S1611*	157	GBM-16-1045-TP	p.S1611*	G	AGTCTCCAATGAATTGTTATC	NM_018963	NP_061836	40571510	Q9NSI6	BRWD1_HUMAN	0			40	4971	-	T	T		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	Nonsense_Mutation	1611						
BRWD3	0	broad.mit.edu	GRCh37	X	79938109	79938109	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1833-01	TCGA-27-1833-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373275.4:c.4252C>T	p.Arg1418Ter	p.R1418*	ENST00000373275	NM_153252.4	1418	Cga/Tga	0			1			A	R/*	uc004edt.2	protein_coding	YES	CCDS14447.1			4252/5409									ovary(4)	4	c.(4252-4254)CGA>TGA			Gene3D:1.20.920.10,hmmpanther:PTHR16266,hmmpanther:PTHR16266:SF25,SMART_domains:SM00297,Superfamily_domains:SSF47370	bromodomain and WD repeat domain containing 3				ENSP00000362372		38/41									COSM3406619	38/41	.		ENST00000373275	Transcript	1					ENSG00000165288	g.chrX:79938109G>A	17342			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,X,79938109,G,A&fts=all	R1418*	--	--	1																																		BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Nonsense_Mutation_p.R1014*|BRWD3_uc004edp.2_Nonsense_Mutation_p.R1247*|BRWD3_uc004edq.2_Nonsense_Mutation_p.R1014*|BRWD3_uc010nmj.1_Nonsense_Mutation_p.R1014*|BRWD3_uc004edr.2_Nonsense_Mutation_p.R1088*|BRWD3_uc004eds.2_Nonsense_Mutation_p.R1014*|BRWD3_uc004edu.2_Nonsense_Mutation_p.R1088*|BRWD3_uc004edv.2_Nonsense_Mutation_p.R1014*|BRWD3_uc004edw.2_Nonsense_Mutation_p.R1014*|BRWD3_uc004edx.2_Nonsense_Mutation_p.R1014*|BRWD3_uc004edy.2_Nonsense_Mutation_p.R1014*|BRWD3_uc004edz.2_Nonsense_Mutation_p.R1088*|BRWD3_uc004eea.2_Nonsense_Mutation_p.R1088*|BRWD3_uc004eeb.2_Nonsense_Mutation_p.R1014*	1	1			p.R1418*	NM_153252	NP_694984			1	BRWD3_HUMAN	BRWD3	HGNC	Q6RI45	BRWD3_HUMAN					38	4515	-			UPI000045785B	1418					SNV	BRWD3,stop_gained,p.Arg1418Ter,ENST00000373275,NM_153252.4;BRWD3,non_coding_transcript_exon_variant,,ENST00000473691,;	uc004edt.2	c.4252C>T	4469/11381	5	2			c.4252C>T						23	SNP	c.(4252-4254)CGA>TGA	33	33			ovary(4)	4	Broad	bromodomain and WD repeat domain containing 3			79938109		0.338	ENSG00000165288	1493	g.chrX:79938109G>A										334.176262	KEEP	49	69	-1	35	61	49	69	-1	334.450757	35	61	0.539604	1	0	0	0	0	0	1	0	0	--	--		0	A			BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Nonsense_Mutation_p.R1014*|BRWD3_uc004edp.2_Nonsense_Mutation_p.R1247*|BRWD3_uc004edq.2_Nonsense_Mutation_p.R1014*|BRWD3_uc010nmj.1_Nonsense_Mutation_p.R1014*|BRWD3_uc004edr.2_Nonsense_Mutation_p.R1088*|BRWD3_uc004eds.2_Nonsense_Mutation_p.R1014*|BRWD3_uc004edu.2_Nonsense_Mutation_p.R1088*|BRWD3_uc004edv.2_Nonsense_Mutation_p.R1014*|BRWD3_uc004edw.2_Nonsense_Mutation_p.R1014*|BRWD3_uc004edx.2_Nonsense_Mutation_p.R1014*|BRWD3_uc004edy.2_Nonsense_Mutation_p.R1014*|BRWD3_uc004edz.2_Nonsense_Mutation_p.R1088*|BRWD3_uc004eea.2_Nonsense_Mutation_p.R1088*|BRWD3_uc004eeb.2_Nonsense_Mutation_p.R1014*	192	GBM-27-1833-TP	p.R1418*	G	GCAGATAATCGCAGCATCATG	NM_153252	NP_694984	79938109	Q6RI45	BRWD3_HUMAN	0			38	4515	-	A	A			Nonsense_Mutation	1418						
BRWD3	0	broad.mit.edu	GRCh37	X	79999713	79999713	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01	TCGA-76-4928-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373275.4:c.631G>A	p.Asp211Asn	p.D211N	ENST00000373275	NM_153252.4	211	Gat/Aat	0			1			T	D/N	uc004edt.2	protein_coding	YES	CCDS14447.1			631/5409									ovary(4)	4	c.(631-633)GAT>AAT			Gene3D:2.130.10.10,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR16266,hmmpanther:PTHR16266:SF25,SMART_domains:SM00320,Superfamily_domains:SSF50978	bromodomain and WD repeat domain containing 3				ENSP00000362372		Aug-41	3.29E-05			0.000151		4.17E-05			rs763847217,COSM3406621	Aug-41	.		ENST00000373275	Transcript	1					ENSG00000165288	g.chrX:79999713C>T	17342			MODERATE		0.295	neutral	getma.org/?cm=msa&ty=f&p=BRWD3_HUMAN&rb=179&re=241&var=D211N	getma.org/pdb.php?prot=BRWD3_HUMAN&from=209&to=211&var=D211N	getma.org/?cm=var&var=hg19,X,79999713,C,T&fts=all	D211N	--	--	1																																		BRWD3_uc004edo.2_5'UTR|BRWD3_uc004edp.2_Missense_Mutation_p.D40N|BRWD3_uc004edq.2_5'UTR|BRWD3_uc010nmj.1_5'UTR|BRWD3_uc004edr.2_5'UTR|BRWD3_uc004eds.2_5'UTR|BRWD3_uc004edu.2_5'UTR|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_5'UTR|BRWD3_uc004eea.2_5'UTR|BRWD3_uc004eeb.2_Intron	0,1	1		benign(0.019)	p.D211N	NM_153252	NP_694984		tolerated(0.34)	0,1	BRWD3_HUMAN	BRWD3	HGNC	Q6RI45	BRWD3_HUMAN					8	894	-			UPI000045785B	211			WD 2.		SNV	BRWD3,missense_variant,p.Asp211Asn,ENST00000373275,NM_153252.4;BRWD3,non_coding_transcript_exon_variant,,ENST00000478415,;	uc004edt.2	c.631G>A	848/11381	1	1			c.631G>A						23	SNP	c.(631-633)GAT>AAT	2	2			ovary(4)	4	Broad	bromodomain and WD repeat domain containing 3			79999713		0.403	ENSG00000165288	1493	g.chrX:79999713C>T										119.458062	KEEP	31	36	-1	86	109	31	36	-1	132.940804	86	109	0.240909	1	0	0	0	0	1	0	0	0	--	--		0	T			BRWD3_uc004edo.2_5'UTR|BRWD3_uc004edp.2_Missense_Mutation_p.D40N|BRWD3_uc004edq.2_5'UTR|BRWD3_uc010nmj.1_5'UTR|BRWD3_uc004edr.2_5'UTR|BRWD3_uc004eds.2_5'UTR|BRWD3_uc004edu.2_5'UTR|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_5'UTR|BRWD3_uc004eea.2_5'UTR|BRWD3_uc004eeb.2_Intron	268	GBM-76-4928-TP	p.D211N	C	AGGCGTCCATCATCTGTAGCC	NM_153252	NP_694984	79999713	Q6RI45	BRWD3_HUMAN	0			8	894	-	T	T			Missense_Mutation	211			WD 2.			
BSDC1	55108	broad.mit.edu	GRCh37	1	32843632	32843632	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0214-01	TCGA-06-0214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000446293.2:c.666C>T	p.Asp222=	p.D222=	ENST00000446293		222	gaC/gaT	0	A:0.0002		1			A	D	uc001bvh.3	protein_coding		CCDS363.2			615/1293									upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3	c.(613-615)GAC>GAT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16019,hmmpanther:PTHR16019:SF5	BSD domain containing 1 isoform b			A:0.0003	ENSP00000412173		11-Aug	0.000165				0.00126	0.00017		6.99E-05	rs371990220,COSM3400683,COSM3400684	11-Aug	common_variant		ENST00000455895	Transcript					protein binding	ENSG00000160058	g.chr1:32843632G>A	25501			LOW								--	--	1																																		BSDC1_uc010ohg.1_Silent_p.D222D|BSDC1_uc010ohh.1_Silent_p.D149D|BSDC1_uc010ohi.1_Silent_p.D110D|BSDC1_uc001bvg.3_RNA|BSDC1_uc001bvj.2_Silent_p.D101D|BSDC1_uc001bvi.2_Silent_p.D222D	0,1,1				p.D205D	NM_018045	NP_060515			0,1,1	BSDC1_HUMAN	BSDC1	HGNC	Q9NW68	BSDC1_HUMAN					8	662	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	UPI000006DCA3	205					SNV	BSDC1,splice_acceptor_variant,,ENST00000413080,;BSDC1,synonymous_variant,p.=,ENST00000341071,;BSDC1,synonymous_variant,p.=,ENST00000455895,NM_018045.6,NM_001143888.1;BSDC1,synonymous_variant,p.=,ENST00000446293,;BSDC1,synonymous_variant,p.=,ENST00000419121,NM_001143889.1;BSDC1,synonymous_variant,p.=,ENST00000526031,NM_001143890.1;BSDC1,synonymous_variant,p.=,ENST00000449308,;BSDC1,synonymous_variant,p.=,ENST00000527163,;BSDC1,downstream_gene_variant,,ENST00000530485,;BSDC1,upstream_gene_variant,,ENST00000463967,;BSDC1,synonymous_variant,p.=,ENST00000444377,;BSDC1,3_prime_UTR_variant,,ENST00000373520,;BSDC1,3_prime_UTR_variant,,ENST00000527513,;BSDC1,downstream_gene_variant,,ENST00000474414,;	uc001bvh.3	c.615C>T	649/2846	2	2			c.615C>T						1	SNP	c.(613-615)GAC>GAT	24	24			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3	Broad	BSD domain containing 1 isoform b			32843632		0.622	ENSG00000160058	1495	g.chr1:32843632G>A			protein binding							-2.438269	KEEP	0	4	-1	25	34	0	4	-1	8.156325	25	34	0.071429	1	0	0	0	0	0	0	1	0	--	--		0	A			BSDC1_uc010ohg.1_Silent_p.D222D|BSDC1_uc010ohh.1_Silent_p.D149D|BSDC1_uc010ohi.1_Silent_p.D110D|BSDC1_uc001bvg.3_RNA|BSDC1_uc001bvj.2_Silent_p.D101D|BSDC1_uc001bvi.2_Silent_p.D222D	50	GBM-06-0214-TP	p.D205D	G	GCTTCAGGGCGTCCCTCCGGG	NM_018045	NP_060515	32843632	Q9NW68	BSDC1_HUMAN	0			8	662	-	A	A		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	Silent	205						
BSN	8927	broad.mit.edu	GRCh37	3	49691996	49691996	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0184-01	TCGA-06-0184-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296452.4:c.5007T>C	p.Arg1669=	p.R1669=	ENST00000296452	NM_003458.3	1669	cgT/cgC	0			1			C	R	uc003cxe.3	protein_coding	YES	CCDS2800.1			5007/11781									ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8	c.(5005-5007)CGT>CGC			hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF1	bassoon protein				ENSP00000296452		12-May									COSM2150471	12-May	.		ENST00000296452	Transcript			synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	ENSG00000164061	g.chr3:49691996T>C	1117			LOW								--	--	1																																			1	1			p.R1669R	NM_003458	NP_003449			1	BSN_HUMAN	BSN	HGNC	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)			5	5121	+			UPI000013E33C	1669					SNV	BSN,synonymous_variant,p.=,ENST00000296452,NM_003458.3;BSN,downstream_gene_variant,,ENST00000467456,;	uc003cxe.3	c.5007T>C	5121/15955	3	3			c.5007T>C						3	SNP	c.(5005-5007)CGT>CGC	51	51			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8	Broad	bassoon protein			49691996		0.597	ENSG00000164061	1497	g.chr3:49691996T>C	synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding							94.414991	KEEP	11	26	-1	46	34	11	26	-1	98.281014	46	34	0.294118	1	0	0	0	0	0	0	1	0	--	--		0	C				39	GBM-06-0184-TP	p.R1669R	T	TAGACCTCCGTACAGCTGTCA	NM_003458	NP_003449	49691996	Q9UPA5	BSN_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	5121	+	C	C			Silent	1669						
BSN	8927	broad.mit.edu	GRCh37	3	49699300	49699300	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0875-01	TCGA-06-0875-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296452.4:c.10022C>T	p.Pro3341Leu	p.P3341L	ENST00000296452	NM_003458.3	3341	cCc/cTc	0			1			T	P/L	uc003cxe.3	protein_coding	YES	CCDS2800.1			10022/11781									ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8	c.(10021-10023)CCC>CTC			hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF1	bassoon protein				ENSP00000296452		12-Jun									COSM3408744	12-Jun	.		ENST00000296452	Transcript			synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	ENSG00000164061	g.chr3:49699300C>T	1117			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=BSN_HUMAN&rb=2363&re=3924&var=P3341L	NA	getma.org/?cm=var&var=hg19,3,49699300,C,T&fts=all	P3341L	--	--	1																																			1	1		unknown(0)	p.P3341L	NM_003458	NP_003449			1	BSN_HUMAN	BSN	HGNC	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)			6	10136	+			UPI000013E33C	3341					SNV	BSN,missense_variant,p.Pro3341Leu,ENST00000296452,NM_003458.3;	uc003cxe.3	c.10022C>T	10136/15955	1	1			c.10022C>T						3	SNP	c.(10021-10023)CCC>CTC	5	5			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8	Broad	bassoon protein			49699300		0.572	ENSG00000164061	1497	g.chr3:49699300C>T	synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding							45.853502	KEEP	10	12	-1	38	64	10	12	-1	57.336238	38	64	0.177966	1	0	0	0	0	1	0	0	0	--	--		0	T				71	GBM-06-0875-TP	p.P3341L	C	CCCATGGGGCCCAAGCATCCC	NM_003458	NP_003449	49699300	Q9UPA5	BSN_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	6	10136	+	T	T			Missense_Mutation	3341						
BSN	0	broad.mit.edu	GRCh37	3	49689184	49689184	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01	TCGA-19-5951-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296452.4:c.2195G>A	p.Arg732Gln	p.R732Q	ENST00000296452	NM_003458.3	732	cGg/cAg	0	A:0		1			A	R/Q	uc003cxe.3	protein_coding	YES	CCDS2800.1			2195/11781									ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8	c.(2194-2196)CGG>CAG			hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF1	bassoon protein			A:0.0001	ENSP00000296452		12-May	4.12E-05		0.000173			4.56E-05			rs376181418,COSM2156650	12-May	.		ENST00000296452	Transcript			synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	ENSG00000164061	g.chr3:49689184G>A	1117			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=BSN_HUMAN&rb=522&re=1172&var=R732Q	NA	getma.org/?cm=var&var=hg19,3,49689184,G,A&fts=all	R732Q	--	--	1																																			0,1	1		unknown(0)	p.R732Q	NM_003458	NP_003449			0,1	BSN_HUMAN	BSN	HGNC	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)			5	2309	+			UPI000013E33C	732					SNV	BSN,missense_variant,p.Arg732Gln,ENST00000296452,NM_003458.3;BSN,downstream_gene_variant,,ENST00000467456,;	uc003cxe.3	c.2195G>A	2309/15955	1	1			c.2195G>A						3	SNP	c.(2194-2196)CGG>CAG	63	63			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8	Broad	bassoon protein			49689184		0.667	ENSG00000164061	1497	g.chr3:49689184G>A	synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding							83.442645	KEEP	8	19	-1	14	23	8	19	-1	83.731432	14	23	0.42623	1	0	0	0	0	1	0	0	0	--	--		0	A				171	GBM-19-5951-TP	p.R732Q	G	AGCAGCATGCGGCCTTTGCTG	NM_003458	NP_003449	49689184	Q9UPA5	BSN_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	2309	+	A	A			Missense_Mutation	732						
BSN	8927		GRCh37	3	49694511	49694511	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000296452.4:c.7522G>A	p.Ala2508Thr	p.A2508T	ENST00000296452	NM_003458.3	2508	Gca/Aca	0																																																																																																																																																																																																																																												
BST1	683	broad.mit.edu	GRCh37	4	15717416	15717416	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-2567-01	TCGA-06-2567-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265016.4:c.698C>G	p.Pro233Arg	p.P233R	ENST00000265016	NM_004334.2	233	cCc/cGc	0			1			G	P/R	uc003goh.3	protein_coding	YES	CCDS3416.1			698/957									central_nervous_system(1)	1	c.(697-699)CCC>CGC			hmmpanther:PTHR10912:SF4,hmmpanther:PTHR10912,Pfam_domain:PF02267,Gene3D:3.40.50.720,Superfamily_domains:SSF52309	bone marrow stromal cell antigen 1 precursor				ENSP00000265016		9-Jun	8.24E-06					1.51E-05			rs775200639,COSM3409128	9-Jun	.		ENST00000265016	Transcript			humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity	ENSG00000109743	g.chr4:15717416C>G	1118			MODERATE		2.54	medium	getma.org/?cm=msa&ty=f&p=BST1_HUMAN&rb=40&re=280&var=P233R	getma.org/pdb.php?prot=BST1_HUMAN&from=40&to=280&var=P233R	getma.org/?cm=var&var=hg19,4,15717416,C,G&fts=all	P233R	--	--	1																																		BST1_uc003goi.2_Missense_Mutation_p.P44R	0,1	1		probably_damaging(0.981)	p.P233R	NM_004334	NP_004325		deleterious(0)	0,1	BST1_HUMAN	BST1	HGNC	Q10588	BST1_HUMAN					6	893	+			UPI0000072318	233					SNV	BST1,missense_variant,p.Pro248Arg,ENST00000382346,;BST1,missense_variant,p.Pro233Arg,ENST00000265016,NM_004334.2;BST1,missense_variant,p.Pro83Arg,ENST00000514445,;BST1,missense_variant,p.Pro41Arg,ENST00000514989,;BST1,missense_variant,p.Pro129Arg,ENST00000505785,;	uc003goh.3	c.698C>G	893/1480	3	3			c.698C>G						4	SNP	c.(697-699)CCC>CGC	1	1			central_nervous_system(1)	1	Broad	bone marrow stromal cell antigen 1 precursor			15717416		0.328	ENSG00000109743	1500	g.chr4:15717416C>G	humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity							-23.352912	KEEP	2	2	-1	57	77	2	2	-1	6.642447	57	77	0.025	1	0	0	0	0	1	0	0	0	--	--		0	G			BST1_uc003goi.2_Missense_Mutation_p.P44R	89	GBM-06-2567-TP	p.P233R	C	ATTGGGGGACCCAATGTGTAA	NM_004334	NP_004325	15717416	Q10588	BST1_HUMAN	0			6	893	+	G	G			Missense_Mutation	233						
BTAF1	0	broad.mit.edu	GRCh37	10	93756207	93756207	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265990.6:c.3391G>A	p.Gly1131Ser	p.G1131S	ENST00000265990	NM_003972.2	1131	Ggt/Agt	0			1			A	G/S	uc001khr.2	protein_coding	YES	CCDS7419.1			3391/5550									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(3391-3393)GGT>AGT			Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR10799:SF225,hmmpanther:PTHR10799	BTAF1 RNA polymerase II, B-TFIID transcription				ENSP00000265990		24/38									COSM3397304	24/38	.		ENST00000265990	Transcript			negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	ENSG00000095564	g.chr10:93756207G>A	17307			MODERATE		1.185	low	getma.org/?cm=msa&ty=f&p=BTAF1_HUMAN&rb=1100&re=1250&var=G1131S	NA	getma.org/?cm=var&var=hg19,10,93756207,G,A&fts=all	G1131S	--	--	1																																		BTAF1_uc001kht.1_Missense_Mutation_p.G569S	1	1		benign(0.022)	p.G1131S	NM_003972	NP_003963		deleterious(0.04)	1	BTAF1_HUMAN	BTAF1	HGNC	O14981	BTAF1_HUMAN			Q8N6J1_HUMAN,Q2M1V9_HUMAN,B4E0W6_HUMAN		24	3489	+		Colorectal(252;0.0846)	UPI0000136782	1131			HEAT 7.		SNV	BTAF1,missense_variant,p.Gly1131Ser,ENST00000265990,NM_003972.2;BTAF1,5_prime_UTR_variant,,ENST00000544642,;	uc001khr.2	c.3391G>A	3699/7250	1	1			c.3391G>A						10	SNP	c.(3391-3393)GGT>AGT	56	56			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	BTAF1 RNA polymerase II, B-TFIID transcription			93756207		0.423	ENSG00000095564	1503	g.chr10:93756207G>A	negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity							139.406049	KEEP	24	19	-1	8	15	24	19	-1	140.554256	8	15	0.645161	1	0	0	0	0	1	0	0	0	--	--		0	A			BTAF1_uc001kht.1_Missense_Mutation_p.G569S	129	GBM-12-5295-TP	p.G1131S	G	TCGTTGTGTAGGTGTCATGAG	NM_003972	NP_003963	93756207	O14981	BTAF1_HUMAN	0			24	3489	+	A	A		Colorectal(252;0.0846)	Missense_Mutation	1131			HEAT 7.			
BTBD1	53339		GRCh37	15	83725179	83725179	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000261721.4:c.520C>T	p.His174Tyr	p.H174Y	ENST00000261721	NM_001011885.1	174	Cat/Tat	0																																																																																																																																																																																																																																												
BTBD10	0	broad.mit.edu	GRCh37	11	13441120	13441120	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-76-6192-01	TCGA-76-6192-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278174.5:c.471A>G	p.Lys157=	p.K157=	ENST00000278174	NM_032320.5	157	aaA/aaG	0		C:0	1	C:0		C	K	uc001mkz.2	protein_coding	YES	CCDS7811.1			471/1428										0	c.(469-471)AAA>AAG			hmmpanther:PTHR21637,hmmpanther:PTHR21637:SF4	K+ channel tetramerization protein		C:0		ENSP00000278174	C:0	9-Apr	0.000239							0.00176	rs533959399,COSM3397581	9-Apr	common_variant		ENST00000278174	Transcript		C:0.0012		nucleus		ENSG00000148925	g.chr11:13441120T>C	21445			LOW								--	--	1																																		BTBD10_uc010rcl.1_Silent_p.K165K|BTBD10_uc001mla.2_Silent_p.K141K|BTBD10_uc009ygn.2_RNA|BTBD10_uc010rcm.1_Silent_p.K109K|BTBD10_uc010rcn.1_Silent_p.K126K|BTBD10_uc009ygo.2_Silent_p.K109K	0,1	1			p.K157K	NM_032320	NP_115696	C:0.0061		0,1	BTBDA_HUMAN	BTBD10	HGNC	Q9BSF8	BTBDA_HUMAN		Epithelial(150;0.0214)	Q7L2U6_HUMAN,Q6P5W1_HUMAN,E9PPD8_HUMAN,E9PKM7_HUMAN,D3DQW7_HUMAN,B7Z503_HUMAN		4	728	-			UPI00000622BE	157					SNV	BTBD10,synonymous_variant,p.=,ENST00000278174,NM_032320.5;BTBD10,synonymous_variant,p.=,ENST00000530907,;BTBD10,synonymous_variant,p.=,ENST00000528120,;BTBD10,downstream_gene_variant,,ENST00000529708,;BTBD10,downstream_gene_variant,,ENST00000526841,;BTBD10,non_coding_transcript_exon_variant,,ENST00000532261,;BTBD10,synonymous_variant,p.=,ENST00000527102,;BTBD10,3_prime_UTR_variant,,ENST00000525108,;BTBD10,non_coding_transcript_exon_variant,,ENST00000525864,;BTBD10,non_coding_transcript_exon_variant,,ENST00000525661,;	uc001mkz.2	c.471A>G	717/2504	4	4			c.471A>G						11	SNP	c.(469-471)AAA>AAG	38	38				0	Broad	K+ channel tetramerization protein			13441120		0.418	ENSG00000148925	1505	g.chr11:13441120T>C		nucleus								218.893917	KEEP	27	52	-1	86	107	27	52	-1	228.297735	86	107	0.289916	1	0	0	0	0	0	0	1	0	--	--		0	C			BTBD10_uc010rcl.1_Silent_p.K165K|BTBD10_uc001mla.2_Silent_p.K141K|BTBD10_uc009ygn.2_RNA|BTBD10_uc010rcm.1_Silent_p.K109K|BTBD10_uc010rcn.1_Silent_p.K126K|BTBD10_uc009ygo.2_Silent_p.K109K	275	GBM-76-6192-TP	p.K157K	T	GAGCTCCTTCTTTTGCATTTT	NM_032320	NP_115696	13441120	Q9BSF8	BTBDA_HUMAN	0		Epithelial(150;0.0214)	4	728	-	C	C			Silent	157						
BTBD11	121551	broad.mit.edu	GRCh37	12	108012011	108012011	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01	TCGA-02-0003-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000280758.5:c.2308G>A	p.Glu770Lys	p.E770K	ENST00000280758	NM_001018072.1	770	Gag/Aag	0			1			A	E/K	uc001tmk.1	protein_coding	YES	CCDS31893.1			2308/3315									skin(2)|ovary(1)	3	c.(2308-2310)GAG>AAG			hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF76	BTB (POZ) domain containing 11 isoform a				ENSP00000280758		17-Oct									COSM2148894	17-Oct	.		ENST00000280758	Transcript				integral to membrane	DNA binding	ENSG00000151136	g.chr12:108012011G>A	23844			MODERATE		2.44	medium	getma.org/?cm=msa&ty=f&p=BTBDB_HUMAN&rb=766&re=913&var=E770K	NA	getma.org/?cm=var&var=hg19,12,108012011,G,A&fts=all	E770K	--	--	1																																		BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.2_Missense_Mutation_p.E770K|BTBD11_uc001tml.1_Missense_Mutation_p.E307K	1	1		probably_damaging(0.994)	p.E770K	NM_001018072	NP_001018082		deleterious(0)	1	BTBDB_HUMAN	BTBD11	HGNC	A6QL63	BTBDB_HUMAN			B3KY13_HUMAN,B3KXB0_HUMAN		10	2829	+			UPI000051901E	770					SNV	BTBD11,missense_variant,p.Glu770Lys,ENST00000280758,NM_001018072.1;BTBD11,missense_variant,p.Glu770Lys,ENST00000490090,;BTBD11,missense_variant,p.Glu307Lys,ENST00000357167,NM_001017523.1;BTBD11,intron_variant,,ENST00000420571,;RP11-128P10.1,upstream_gene_variant,,ENST00000548473,;	uc001tmk.1	c.2308G>A	2836/5767	2	2			c.2308G>A						12	SNP	c.(2308-2310)GAG>AAG	29	29			skin(2)|ovary(1)	3	Broad	BTB (POZ) domain containing 11 isoform a			108012011		0.607	ENSG00000151136	1506	g.chr12:108012011G>A		integral to membrane	DNA binding							88.918113	KEEP	19	15	-1	33	30	19	15	-1	90.398209	33	30	0.365591	1	0	0	0	0	1	0	0	0	--	--		0	A			BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.2_Missense_Mutation_p.E770K|BTBD11_uc001tml.1_Missense_Mutation_p.E307K	1	GBM-02-0003-TP	p.E770K	G	GATTCTGGCCGAGGGGACTGA	NM_001018072	NP_001018082	108012011	A6QL63	BTBDB_HUMAN	0			10	2829	+	A	A			Missense_Mutation	770						
BTBD11	121551	broad.mit.edu	GRCh37	12	108013833	108013833	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-0644-01	TCGA-06-0644-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000280758.5:c.2523C>A	p.Leu841=	p.L841=	ENST00000280758	NM_001018072.1	841	ctC/ctA	0			1			A	L	uc001tmk.1	protein_coding	YES	CCDS31893.1			2523/3315									skin(2)|ovary(1)	3	c.(2521-2523)CTC>CTA			hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF76	BTB (POZ) domain containing 11 isoform a				ENSP00000280758		17-Nov									COSM2151209	17-Nov	.		ENST00000280758	Transcript				integral to membrane	DNA binding	ENSG00000151136	g.chr12:108013833C>A	23844			LOW								--	--	1																																		BTBD11_uc009zut.1_Silent_p.L722L|BTBD11_uc001tmj.2_Silent_p.L841L|BTBD11_uc001tml.1_Silent_p.L378L	1	1			p.L841L	NM_001018072	NP_001018082			1	BTBDB_HUMAN	BTBD11	HGNC	A6QL63	BTBDB_HUMAN			B3KY13_HUMAN,B3KXB0_HUMAN		11	3044	+			UPI000051901E	841			ANK 5.		SNV	BTBD11,synonymous_variant,p.=,ENST00000280758,NM_001018072.1;BTBD11,synonymous_variant,p.=,ENST00000490090,;BTBD11,synonymous_variant,p.=,ENST00000357167,NM_001017523.1;BTBD11,synonymous_variant,p.=,ENST00000420571,;RP11-128P10.1,upstream_gene_variant,,ENST00000548473,;	uc001tmk.1	c.2523C>A	3051/5767	2	2			c.2523C>A						12	SNP	c.(2521-2523)CTC>CTA	48	48			skin(2)|ovary(1)	3	Broad	BTB (POZ) domain containing 11 isoform a			108013833		0.507	ENSG00000151136	1506	g.chr12:108013833C>A		integral to membrane	DNA binding							57.185944	KEEP	12	12	0.5	31	27	12	12	0.5	59.552074	31	27	0.310811	1	0	0	0	0	0	0	1	0	--	--		0	A			BTBD11_uc009zut.1_Silent_p.L722L|BTBD11_uc001tmj.2_Silent_p.L841L|BTBD11_uc001tml.1_Silent_p.L378L	58	GBM-06-0644-TP	p.L841L	C	GCAGGCCTCTCATCCAGTGCT	NM_001018072	NP_001018082	108013833	A6QL63	BTBDB_HUMAN	0			11	3044	+	A	A			Silent	841			ANK 5.			
ABTB3	0	broad.mit.edu	GRCh37	12	108012040	108012040	+	synonymous_variant	Silent	SNP	G	G	A	rs150221761	byFrequency	TCGA-12-0688-01	TCGA-12-0688-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000280758.5:c.2337G>A	p.Pro779=	p.P779=	ENST00000280758	NM_001018072.1	779	ccG/ccA	0	A:0.0002	A:0	1	A:0		A	P	uc001tmk.1	protein_coding	YES	CCDS31893.1			2337/3315									skin(2)|ovary(1)	3	c.(2335-2337)CCG>CCA			hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF76	BTB (POZ) domain containing 11 isoform a		A:0	A:0.0031	ENSP00000280758	A:0.001	17-Oct	0.0025	0.000395	0.00104		0.000632	0.00394	0.00227	0.00121	rs150221761,COSM1470508	17-Oct	common_variant		ENST00000280758	Transcript		A:0.0002		integral to membrane	DNA binding	ENSG00000151136	g.chr12:108012040G>A	23844			LOW								--	--	1																																		BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.2_Silent_p.P779P|BTBD11_uc001tml.1_Silent_p.P316P	0,1	1			p.P779P	NM_001018072	NP_001018082	A:0		0,1	BTBDB_HUMAN	BTBD11	HGNC	A6QL63	BTBDB_HUMAN			B3KY13_HUMAN,B3KXB0_HUMAN		10	2858	+			UPI000051901E	779					SNV	BTBD11,synonymous_variant,p.=,ENST00000280758,NM_001018072.1;BTBD11,synonymous_variant,p.=,ENST00000490090,;BTBD11,synonymous_variant,p.=,ENST00000357167,NM_001017523.1;BTBD11,intron_variant,,ENST00000420571,;RP11-128P10.1,upstream_gene_variant,,ENST00000548473,;	uc001tmk.1	c.2337G>A	2865/5767	1	1			c.2337G>A						12	SNP	c.(2335-2337)CCG>CCA	50	50			skin(2)|ovary(1)	3	Broad	BTB (POZ) domain containing 11 isoform a			108012040		0.612	ENSG00000151136	1506	g.chr12:108012040G>A		integral to membrane	DNA binding							85.745379	KEEP	14	16	-1	21	18	14	16	-1	85.759204	21	18	0.483871	1	0	0	0	0	0	0	1	0	--	--		0	A			BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.2_Silent_p.P779P|BTBD11_uc001tml.1_Silent_p.P316P	121	GBM-12-0688-TP	p.P779P	G	AGACAGCCCCGCCCCCCTTGT	NM_001018072	NP_001018082	108012040	A6QL63	BTBDB_HUMAN	0			10	2858	+	A	A			Silent	779						
BTBD16	0	broad.mit.edu	GRCh37	10	124066797	124066797	+	stop_gained	Nonsense_Mutation	SNP	T	T	A			TCGA-14-0740-01	TCGA-14-0740-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260723.4:c.885T>A	p.Tyr295Ter	p.Y295*	ENST00000260723	NM_144587.2	295	taT/taA	0			1			A	Y/*	uc001lgc.1	protein_coding	YES	CCDS31301.1			885/1521									skin(1)	1	c.(883-885)TAT>TAA			hmmpanther:PTHR23231,hmmpanther:PTHR23231:SF13	BTB (POZ) domain containing 16				ENSP00000260723		16-Oct									COSM3396950	16-Oct	.		ENST00000260723	Transcript						ENSG00000138152	g.chr10:124066797T>A	26340			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,10,124066797,T,A&fts=all	Y295*	--	--	1																																		BTBD16_uc001lgd.1_Nonsense_Mutation_p.Y294*	1	1			p.Y295*	NM_144587	NP_653188			1	BTBDG_HUMAN	BTBD16	HGNC	Q32M84	BTBDG_HUMAN					10	1136	+		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)	UPI00003CEFB9	295					SNV	BTBD16,stop_gained,p.Tyr296Ter,ENST00000368994,;BTBD16,stop_gained,p.Tyr295Ter,ENST00000260723,NM_144587.2;	uc001lgc.1	c.885T>A	1136/1849	5	2			c.885T>A						10	SNP	c.(883-885)TAT>TAA	34	34			skin(1)	1	Broad	BTB (POZ) domain containing 16			124066797		0.353	ENSG00000138152	1508	g.chr10:124066797T>A										158.655722	KEEP	31	16	-1	2	2	31	16	-1	166.412484	2	2	0.916667	1	0	0	0	0	0	1	0	0	--	--		0	A			BTBD16_uc001lgd.1_Nonsense_Mutation_p.Y294*	132	GBM-14-0740-TP	p.Y295*	T	TTCCGACTTATGAAACCGTGA	NM_144587	NP_653188	124066797	Q32M84	BTBDG_HUMAN	0			10	1136	+	A	A		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)	Nonsense_Mutation	295						
BTBD3	22903	broad.mit.edu	GRCh37	20	11899075	11899075	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-02-0047-01	TCGA-02-0047-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000405977.1:c.152A>G	p.Glu51Gly	p.E51G	ENST00000405977	NM_001282554.1	51	gAa/gGa	0			1			G	E/G	uc002wnz.2	protein_coding		CCDS13113.1			152/1569									ovary(2)|central_nervous_system(1)	3	c.(151-153)GAA>GGA			hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF104	BTB/POZ domain containing protein 3 isoform a				ENSP00000367471		4-Jan									COSM2148982	4-Jan	.		ENST00000378226	Transcript						ENSG00000132640	g.chr20:11899075A>G	15854			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=BTBD3_HUMAN&rb=1&re=109&var=E51G	NA	getma.org/?cm=var&var=hg19,20,11899075,A,G&fts=all	E51G	--	--	1																																		BTBD3_uc002wny.2_5'UTR|BTBD3_uc002woa.2_5'UTR|BTBD3_uc010zrf.1_5'UTR|BTBD3_uc010zrg.1_5'Flank|BTBD3_uc010zrh.1_5'Flank	1			benign(0.355)	p.E51G	NM_014962	NP_055777		deleterious_low_confidence(0.02)	1	BTBD3_HUMAN	BTBD3	HGNC	Q9Y2F9	BTBD3_HUMAN			Q9NST6_HUMAN,Q52M42_HUMAN,B4DK27_HUMAN,B0QYR1_HUMAN,B0QYR0_HUMAN,B0QYQ9_HUMAN		1	511	+			UPI0000126B03	51					SNV	BTBD3,missense_variant,p.Glu51Gly,ENST00000405977,NM_001282554.1,NM_001282550.1;BTBD3,missense_variant,p.Glu51Gly,ENST00000378226,NM_014962.2,NM_001282554.1,NM_001282550.1;BTBD3,5_prime_UTR_variant,,ENST00000399006,NM_001282554.1,NM_001282551.1;BTBD3,5_prime_UTR_variant,,ENST00000254977,NM_181443.1,NM_001282554.1;BTBD3,5_prime_UTR_variant,,ENST00000422390,;BTBD3,5_prime_UTR_variant,,ENST00000450368,;BTBD3,upstream_gene_variant,,ENST00000430557,;BTBD3,upstream_gene_variant,,ENST00000455911,;RP4-742J24.2,non_coding_transcript_exon_variant,,ENST00000439529,;BTBD3,upstream_gene_variant,,ENST00000488503,;BTBD3,upstream_gene_variant,,ENST00000471120,;BTBD3,upstream_gene_variant,,ENST00000473180,;BTBD3,upstream_gene_variant,,ENST00000473416,;BTBD3,5_prime_UTR_variant,,ENST00000449299,;	uc002wnz.2	c.152A>G	511/4857	4	4			c.152A>G						20	SNP	c.(151-153)GAA>GGA	18	18			ovary(2)|central_nervous_system(1)	3	Broad	BTB/POZ domain containing protein 3 isoform a			11899075		0.383	ENSG00000132640	1511	g.chr20:11899075A>G										462.604298	KEEP	51	111	-1	107	142	51	111	-1	466.329375	107	142	0.391061	1	0	0	0	0	1	0	0	0	--	--		0	G			BTBD3_uc002wny.2_5'UTR|BTBD3_uc002woa.2_5'UTR|BTBD3_uc010zrf.1_5'UTR|BTBD3_uc010zrg.1_5'Flank|BTBD3_uc010zrh.1_5'Flank	3	GBM-02-0047-TP	p.E51G	A	GTTTGTTATGAAATAATTACC	NM_014962	NP_055777	11899075	Q9Y2F9	BTBD3_HUMAN	0			1	511	+	G	G			Missense_Mutation	51						
BTBD9	114781	broad.mit.edu	GRCh37	6	38224188	38224188	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0214-01	TCGA-06-0214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000481247.1:c.1559G>T	p.Cys520Phe	p.C520F	ENST00000481247	NM_052893.1	520	tGc/tTc	0			1			A	C/F	uc003ooa.3	protein_coding	YES	CCDS47418.1			1559/1839										0	c.(1558-1560)TGC>TTC			Gene3D:2.60.120.260,Pfam_domain:PF00754,Superfamily_domains:SSF49785	BTB (POZ) domain containing 9 isoform a				ENSP00000418751		11-Sep									COSM3411044,COSM3411043	11-Sep	.		ENST00000481247	Transcript	1		cell adhesion			ENSG00000183826	g.chr6:38224188C>A	21228			MODERATE		2.93	medium	getma.org/?cm=msa&ty=f&p=BTBD9_HUMAN&rb=433&re=554&var=C520F	NA	getma.org/?cm=var&var=hg19,6,38224188,C,A&fts=all	C520F	--	--	1																																		BTBD9_uc003ony.3_Missense_Mutation_p.C452F|BTBD9_uc010jwv.2_Missense_Mutation_p.C481F|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Missense_Mutation_p.C520F	1,1	1		probably_damaging(0.99)	p.C520F	NM_052893	NP_443125		deleterious(0)	1,1	BTBD9_HUMAN	BTBD9	HGNC	Q96Q07	BTBD9_HUMAN			Q8N299_HUMAN,C9JVC1_HUMAN,C9J8E4_HUMAN		10	2135	-			UPI00001C040E	520					SNV	BTBD9,missense_variant,p.Cys520Phe,ENST00000481247,NM_052893.1,NM_001099272.1;BTBD9,missense_variant,p.Cys452Phe,ENST00000314100,NM_001172418.1,NM_152733.2;BTBD9,missense_variant,p.Cys490Phe,ENST00000419706,;BTBD9,missense_variant,p.Cys520Phe,ENST00000403056,;BTBD9,missense_variant,p.Cys452Phe,ENST00000408958,;BTBD9,3_prime_UTR_variant,,ENST00000328403,;	uc003ooa.3	c.1559G>T	1711/8525	1	1			c.1559G>T						6	SNP	c.(1558-1560)TGC>TTC	63	63				0	Broad	BTB (POZ) domain containing 9 isoform a			38224188		0.408	ENSG00000183826	1515	g.chr6:38224188C>A	cell adhesion									69.170645	KEEP	10	18	0.642857143	30	26	10	18	0.642857143	71.465556	30	26	0.315789	1	0	0	0	0	1	0	0	0	--	--		0	A			BTBD9_uc003ony.3_Missense_Mutation_p.C452F|BTBD9_uc010jwv.2_Missense_Mutation_p.C481F|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Missense_Mutation_p.C520F	50	GBM-06-0214-TP	p.C520F	C	AACTTACTTGCAGGAGACTTT	NM_052893	NP_443125	38224188	Q96Q07	BTBD9_HUMAN	0			10	2135	-	A	A			Missense_Mutation	520						
BTBD9	0	broad.mit.edu	GRCh37	6	38256182	38256182	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-14-3476-01	TCGA-14-3476-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000481247.1:c.1320C>A	p.Val440=	p.V440=	ENST00000481247	NM_052893.1	440	gtC/gtA	0			1			T	V	uc003ooa.3	protein_coding	YES	CCDS47418.1			1320/1839										0	c.(1318-1320)GTC>GTA			hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF101	BTB (POZ) domain containing 9 isoform a				ENSP00000418751		11-Aug									COSM3411048,COSM3411047	11-Aug	.		ENST00000481247	Transcript	1		cell adhesion			ENSG00000183826	g.chr6:38256182G>T	21228			LOW								--	--	1																																		BTBD9_uc003ony.3_Silent_p.V372V|BTBD9_uc010jwv.2_Silent_p.V401V|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Silent_p.V440V	1,1	1			p.V440V	NM_052893	NP_443125			1,1	BTBD9_HUMAN	BTBD9	HGNC	Q96Q07	BTBD9_HUMAN			Q8N299_HUMAN,C9JVC1_HUMAN,C9J8E4_HUMAN		9	1896	-			UPI00001C040E	440					SNV	BTBD9,synonymous_variant,p.=,ENST00000481247,NM_052893.1,NM_001099272.1;BTBD9,synonymous_variant,p.=,ENST00000314100,NM_001172418.1,NM_152733.2;BTBD9,synonymous_variant,p.=,ENST00000419706,;BTBD9,synonymous_variant,p.=,ENST00000403056,;BTBD9,synonymous_variant,p.=,ENST00000408958,;BTBD9,3_prime_UTR_variant,,ENST00000328403,;	uc003ooa.3	c.1320C>A	1472/8525	2	2			c.1320C>A						6	SNP	c.(1318-1320)GTC>GTA	44	44				0	Broad	BTB (POZ) domain containing 9 isoform a			38256182		0.463	ENSG00000183826	1515	g.chr6:38256182G>T	cell adhesion									-4.667764	KEEP	5	7	0.416666667	79	78	5	7	0.416666667	21.300912	79	78	0.072464	1	0	0	0	0	0	0	1	0	--	--		0	T			BTBD9_uc003ony.3_Silent_p.V372V|BTBD9_uc010jwv.2_Silent_p.V401V|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Silent_p.V440V	151	GBM-14-3476-TP	p.V440V	G	GGCTCCGACTGACTCCTTCAA	NM_052893	NP_443125	38256182	Q96Q07	BTBD9_HUMAN	0			9	1896	-	T	T			Silent	440						
BTBD9	0	broad.mit.edu	GRCh37	6	38256068	38256068	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5955-01	TCGA-19-5955-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000481247.1:c.1434G>A	p.Pro478=	p.P478=	ENST00000481247	NM_052893.1	478	ccG/ccA	0		T:0	1	T:0.0014		T	P	uc003ooa.3	protein_coding	YES	CCDS47418.1			1434/1839										0	c.(1432-1434)CCG>CCA			Gene3D:2.60.120.260,Pfam_domain:PF00754,Superfamily_domains:SSF49785	BTB (POZ) domain containing 9 isoform a		T:0		ENSP00000418751	T:0	11-Aug	4.13E-05		0.000173			1.50E-05		0.000122	rs181693343,COSM3411046,COSM3411045	11-Aug	.		ENST00000481247	Transcript	1	T:0.0002	cell adhesion			ENSG00000183826	g.chr6:38256068C>T	21228			LOW								--	--	1																																		BTBD9_uc003ony.3_Silent_p.P410P|BTBD9_uc010jwv.2_Silent_p.P439P|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Silent_p.P478P	0,1,1	1			p.P478P	NM_052893	NP_443125	T:0		0,1,1	BTBD9_HUMAN	BTBD9	HGNC	Q96Q07	BTBD9_HUMAN			Q8N299_HUMAN,C9JVC1_HUMAN,C9J8E4_HUMAN		9	2010	-			UPI00001C040E	478					SNV	BTBD9,synonymous_variant,p.=,ENST00000481247,NM_052893.1,NM_001099272.1;BTBD9,synonymous_variant,p.=,ENST00000314100,NM_001172418.1,NM_152733.2;BTBD9,synonymous_variant,p.=,ENST00000419706,;BTBD9,synonymous_variant,p.=,ENST00000403056,;BTBD9,synonymous_variant,p.=,ENST00000408958,;BTBD9,3_prime_UTR_variant,,ENST00000328403,;	uc003ooa.3	c.1434G>A	1586/8525	2	2			c.1434G>A						6	SNP	c.(1432-1434)CCG>CCA	45	45				0	Broad	BTB (POZ) domain containing 9 isoform a			38256068		0.398	ENSG00000183826	1515	g.chr6:38256068C>T	cell adhesion									38.396247	KEEP	10	12	-1	38	58	10	12	-1	47.383266	38	58	0.185567	1	0	0	0	0	0	0	1	0	--	--		0	T			BTBD9_uc003ony.3_Silent_p.P410P|BTBD9_uc010jwv.2_Silent_p.P439P|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Silent_p.P478P	175	GBM-19-5955-TP	p.P478P	C	CAATCATGTACGGTTGTGCCA	NM_052893	NP_443125	38256068	Q96Q07	BTBD9_HUMAN	0			9	2010	-	T	T			Silent	478						
BTN1A1	0	broad.mit.edu	GRCh37	6	26508920	26508920	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-76-4926-01	TCGA-76-4926-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000244513.6:c.1099A>C	p.Arg367=	p.R367=	ENST00000244513	NM_001732.2	367	Agg/Cgg	0			1			C	R	uc003nif.3	protein_coding	YES	CCDS4614.1			1099/1581									ovary(1)|skin(1)	2	c.(1099-1101)AGG>CGG			PROSITE_profiles:PS50188,hmmpanther:PTHR24100:SF53,hmmpanther:PTHR24100,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899	butyrophilin, subfamily 1, member A1 precursor				ENSP00000244513		7-Jul									COSM3410853	7-Jul	.		ENST00000244513	Transcript				extracellular region|integral to plasma membrane	receptor activity	ENSG00000124557	g.chr6:26508920A>C	1135			LOW								--	--	1																																			1	1			p.R367R	NM_001732	NP_001723			1	BT1A1_HUMAN	BTN1A1	HGNC	Q13410	BT1A1_HUMAN					7	1119	+			UPI000006E521	367			B30.2/SPRY.|Cytoplasmic (Potential).		SNV	BTN1A1,synonymous_variant,p.=,ENST00000244513,NM_001732.2;	uc003nif.3	c.1099A>C	1165/2895	3	3			c.1099A>C						6	SNP	c.(1099-1101)AGG>CGG	7	7			ovary(1)|skin(1)	2	Broad	butyrophilin, subfamily 1, member A1 precursor			26508920		0.532	ENSG00000124557	1526	g.chr6:26508920A>C		extracellular region|integral to plasma membrane	receptor activity							-44.282166	KEEP	6	8	-1	165	174	6	8	-1	26.160522	165	174	0.041667	1	0	0	0	0	0	0	1	0	--	--		0	C				266	GBM-76-4926-TP	p.R367R	A	GGTGGGAGACAGGACTGACTG	NM_001732	NP_001723	26508920	Q13410	BT1A1_HUMAN	0			7	1119	+	C	C			Silent	367			B30.2/SPRY.|Cytoplasmic (Potential).			
BTN2A2	10385		GRCh37	6	26385257	26385257	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000356709.4:c.109G>A	p.Val37Met	p.V37M	ENST00000356709	NM_001197240.1	37	Gtg/Atg	0																																																																																																																																																																																																																																												
BTN3A3	0	broad.mit.edu	GRCh37	6	26452287	26452287	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-0786-01	TCGA-14-0786-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000244519.2:c.1403A>G	p.Glu468Gly	p.E468G	ENST00000244519	NM_006994.4	468	gAg/gGg	0			1			G	E/G	uc003nhz.2	protein_coding	YES	CCDS4611.1			1403/1755										0	c.(1402-1404)GAG>GGG			Pfam_domain:PF00622,Prints_domain:PR01407,PROSITE_profiles:PS50188,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF45,SMART_domains:SM00449,Superfamily_domains:SSF49899	butyrophilin, subfamily 3, member A3 isoform a				ENSP00000244519		11-Nov									COSM3410852	11-Nov	.		ENST00000244519	Transcript				integral to membrane		ENSG00000111801	g.chr6:26452287A>G	1140			MODERATE		2.8	medium	getma.org/?cm=msa&ty=f&p=BT3A3_HUMAN&rb=392&re=513&var=E468G	getma.org/pdb.php?prot=BT3A3_HUMAN&from=392&to=513&var=E468G	getma.org/?cm=var&var=hg19,6,26452287,A,G&fts=all	E468G	--	--	1																																		BTN3A3_uc003nia.2_Missense_Mutation_p.E426G|BTN3A3_uc011dkn.1_Missense_Mutation_p.E419G	1	1		probably_damaging(0.998)	p.E468G	NM_006994	NP_008925		deleterious(0)	1	BT3A3_HUMAN	BTN3A3	HGNC	O00478	BT3A3_HUMAN			D0FY33_HUMAN,C9JUV8_HUMAN,C9JQT8_HUMAN,C9JNZ3_HUMAN,C9J877_HUMAN,C9J3Q8_HUMAN		11	1583	+			UPI00000480EF	468			B30.2/SPRY.|Cytoplasmic (Potential).		SNV	BTN3A3,missense_variant,p.Glu468Gly,ENST00000244519,NM_006994.4;BTN3A3,missense_variant,p.Glu426Gly,ENST00000339789,;BTN3A3,missense_variant,p.Glu419Gly,ENST00000361232,NM_197974.2;BTN3A3,downstream_gene_variant,,ENST00000487272,;BTN3A3,downstream_gene_variant,,ENST00000490254,;BTN3A3,non_coding_transcript_exon_variant,,ENST00000480110,;BTN3A3,non_coding_transcript_exon_variant,,ENST00000483179,;BTN3A3,downstream_gene_variant,,ENST00000477388,;BTN3A3,downstream_gene_variant,,ENST00000497681,;	uc003nhz.2	c.1403A>G	1646/3002	3	3			c.1403A>G						6	SNP	c.(1402-1404)GAG>GGG	50	50				0	Broad	butyrophilin, subfamily 3, member A3 isoform a			26452287		0.483	ENSG00000111801	1531	g.chr6:26452287A>G		integral to membrane								-43.848263	KEEP	0	3	-1	96	107	0	3	-1	6.637025	96	107	0.015789	1	0	0	0	0	1	0	0	0	--	--		0	G			BTN3A3_uc003nia.2_Missense_Mutation_p.E426G|BTN3A3_uc011dkn.1_Missense_Mutation_p.E419G	134	GBM-14-0786-TP	p.E468G	A	CTGGACTATGAGACTGGAGAG	NM_006994	NP_008925	26452287	O00478	BT3A3_HUMAN	0			11	1583	+	G	G			Missense_Mutation	468			B30.2/SPRY.|Cytoplasmic (Potential).			
BTNL2	56244	broad.mit.edu	GRCh37	6	32372722	32372722	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000454136.3:c.421G>A	p.Val141Ile	p.V141I	ENST00000454136		141	Gta/Ata	0			1			T	V/I	uc003obg.1	protein_coding					421/1368									central_nervous_system(1)	1	c.(421-423)GTA>ATA			hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF5,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726,Superfamily_domains:SSF48726	butyrophilin-like 2				ENSP00000364132		6-Feb									COSM3410981,COSM3410982	6-Feb	.		ENST00000374993	Transcript	1			integral to membrane		ENSG00000204290	g.chr6:32372722C>T	1142			MODERATE		2.725	medium	getma.org/?cm=msa&ty=f&p=BTNL2_HUMAN&rb=111&re=176&var=V141I	getma.org/pdb.php?prot=BTNL2_HUMAN&from=141&to=146&var=V141I	getma.org/?cm=var&var=hg19,6,32372722,C,T&fts=all	V141I	--	--	1																																		BTNL2_uc010jty.1_Intron|BTNL2_uc010jtz.1_Intron|BTNL2_uc010jua.1_Intron	1,1			probably_damaging(0.967)	p.V141I	NM_019602	NP_062548		tolerated(0.06)	1,1	BTNL2_HUMAN	BTNL2	HGNC	Q9UIR0	BTNL2_HUMAN			I7HPB5_HUMAN		2	421	-			UPI000006D5CE	141			Extracellular (Potential).		SNV	BTNL2,missense_variant,p.Val141Ile,ENST00000454136,;BTNL2,missense_variant,p.Val141Ile,ENST00000374993,NM_019602.1;BTNL2,missense_variant,p.Val141Ile,ENST00000374995,;BTNL2,missense_variant,p.Val141Ile,ENST00000429232,;BTNL2,intron_variant,,ENST00000544175,;BTNL2,intron_variant,,ENST00000414363,;BTNL2,intron_variant,,ENST00000540315,;BTNL2,downstream_gene_variant,,ENST00000446536,;BTNL2,intron_variant,,ENST00000465865,;	uc003obg.1	c.421G>A	421/1368	2	2			c.421G>A						6	SNP	c.(421-423)GTA>ATA	24	24			central_nervous_system(1)	1	Broad	butyrophilin-like 2			32372722		0.448	ENSG00000204290	1532	g.chr6:32372722C>T		integral to membrane								13.761847	KEEP	10	4	-1	72	33	10	4	-1	28.928256	72	33	0.126126	1	0	0	0	0	1	0	0	0	--	--		0	T			BTNL2_uc010jty.1_Intron|BTNL2_uc010jtz.1_Intron|BTNL2_uc010jua.1_Intron	62	GBM-06-0649-TP	p.V141I	C	TCACCTGCTACTTTGAGCAGC	NM_019602	NP_062548	32372722	Q9UIR0	BTNL2_HUMAN	0			2	421	-	T	T			Missense_Mutation	141			Extracellular (Potential).			
BTNL3	10917	broad.mit.edu	GRCh37	5	180432547	180432547	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5412-01	TCGA-06-5412-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342868.6:c.1076G>A	p.Arg359Gln	p.R359Q	ENST00000342868	NM_197975.2	359	cGg/cAg	0			1			A	R/Q	uc003mmr.2	protein_coding	YES	CCDS47358.1			1076/1401										0	c.(1075-1077)CGG>CAG			Pfam_domain:PF00622,Prints_domain:PR01407,PROSITE_profiles:PS50188,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF13,SMART_domains:SM00449,Superfamily_domains:SSF49899	butyrophilin-like 3 precursor				ENSP00000341787		8-Aug	4.12E-05		0.000173			4.50E-05			rs199970076,COSM3410197	8-Aug	.		ENST00000342868	Transcript			lipid metabolic process	integral to membrane		ENSG00000168903	g.chr5:180432547G>A	1143			MODERATE		1.455	low	getma.org/?cm=msa&ty=f&p=BTNL3_HUMAN&rb=338&re=452&var=R359Q	getma.org/pdb.php?prot=BTNL3_HUMAN&from=338&to=452&var=R359Q	getma.org/?cm=var&var=hg19,5,180432547,G,A&fts=all	R359Q	--	--	1																																		BTNL3_uc010jlp.2_Missense_Mutation_p.R144Q	0,1	1		benign(0.042)	p.R359Q	NM_197975	NP_932079		tolerated(0.38)	0,1	BTNL3_HUMAN	BTNL3	HGNC	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)				8	1204	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	UPI00001D69EF	359			B30.2/SPRY.|Cytoplasmic (Potential).		SNV	BTNL3,missense_variant,p.Arg359Gln,ENST00000342868,NM_197975.2;RNU6-1036P,upstream_gene_variant,,ENST00000383959,;	uc003mmr.2	c.1076G>A	1260/2440	2	2			c.1076G>A						5	SNP	c.(1075-1077)CGG>CAG	34	34				0	Broad	butyrophilin-like 3 precursor			180432547		0.478	ENSG00000168903	1533	g.chr5:180432547G>A	lipid metabolic process	integral to membrane								30.411491	KEEP	9	8	-1	64	47	9	8	-1	44.096348	64	47	0.147826	1	0	0	0	0	1	0	0	0	--	--		0	A			BTNL3_uc010jlp.2_Missense_Mutation_p.R144Q	95	GBM-06-5412-TP	p.R359Q	G	GGAGTGTGTCGGGATGACGTA	NM_197975	NP_932079	180432547	Q6UXE8	BTNL3_HUMAN	0	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		8	1204	+	A	A	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Missense_Mutation	359			B30.2/SPRY.|Cytoplasmic (Potential).			
BTRC	0	broad.mit.edu	GRCh37	10	103281492	103281492	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-16-0861-01	TCGA-16-0861-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370187.3:c.421T>G	p.Phe141Val	p.F141V	ENST00000370187	NM_033637.3	141	Ttt/Gtt	0			1			G	F/V	uc001kta.2	protein_coding	YES	CCDS7512.1			421/1818									ovary(1)	1	c.(421-423)TTT>GTT			hmmpanther:PTHR22844:SF143,hmmpanther:PTHR22844,Pfam_domain:PF12125,SMART_domains:SM01028	beta-transducin repeat containing protein				ENSP00000359206		15-May									COSM3396880	15-May	.		ENST00000370187	Transcript	1		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		ENSG00000166167	g.chr10:103281492T>G	1144			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=FBW1A_HUMAN&rb=138&re=177&var=F141V	getma.org/pdb.php?prot=FBW1A_HUMAN&from=138&to=177&var=F141V	getma.org/?cm=var&var=hg19,10,103281492,T,G&fts=all	F141V	--	--	1																																		BTRC_uc001ktb.2_Missense_Mutation_p.F105V|BTRC_uc001ktc.2_Missense_Mutation_p.F115V	1	1		benign(0.394)	p.F141V	NM_033637	NP_378663		tolerated(0.05)	1	FBW1A_HUMAN	BTRC	HGNC	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	Q5T1W7_HUMAN		5	534	+		Colorectal(252;0.234)	UPI00000012B5	141			Homodimerization domain D.		SNV	BTRC,missense_variant,p.Phe141Val,ENST00000370187,NM_033637.3;BTRC,missense_variant,p.Phe100Val,ENST00000393441,NM_001256856.1;BTRC,missense_variant,p.Phe105Val,ENST00000408038,NM_003939.4;BTRC,missense_variant,p.Phe123Val,ENST00000370183,;BTRC,non_coding_transcript_exon_variant,,ENST00000465182,;BTRC,downstream_gene_variant,,ENST00000475200,;	uc001kta.2	c.421T>G	539/6134	4	4			c.421T>G						10	SNP	c.(421-423)TTT>GTT	29	29			ovary(1)	1	Broad	beta-transducin repeat containing protein			103281492		0.413	ENSG00000166167	1535	g.chr10:103281492T>G	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				243			243	182.925007	KEEP	36	24	-1	6	4	36	24	-1	190.602119	6	4	0.848485	1	0	0	0	0	1	0	0	0	--	--		0	G			BTRC_uc001ktb.2_Missense_Mutation_p.F105V|BTRC_uc001ktc.2_Missense_Mutation_p.F115V	156	GBM-16-0861-TP	p.F141V	T	TGTCAAATACTTTGAGCAGTG	NM_033637	NP_378663	103281492	Q9Y297	FBW1A_HUMAN	0		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	5	534	+	G	G		Colorectal(252;0.234)	Missense_Mutation	141			Homodimerization domain D.			
BTRC	0	broad.mit.edu	GRCh37	10	103190197	103190197	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370187.3:c.144C>T	p.Leu48=	p.L48=	ENST00000370187	NM_033637.3	48	ctC/ctT	0			1			T	L	uc001kta.2	protein_coding	YES	CCDS7512.1			144/1818									ovary(1)	1	c.(142-144)CTC>CTT				beta-transducin repeat containing protein				ENSP00000359206		15-Feb									COSM372625	15-Feb	.		ENST00000370187	Transcript	1		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		ENSG00000166167	g.chr10:103190197C>T	1144			LOW								--	--	1																																		BTRC_uc001ksz.1_Intron|BTRC_uc001ktb.2_Intron|BTRC_uc001ktc.2_Silent_p.L48L	1	1			p.L48L	NM_033637	NP_378663			1	FBW1A_HUMAN	BTRC	HGNC	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	Q5T1W7_HUMAN		2	257	+		Colorectal(252;0.234)	UPI00000012B5	48					SNV	BTRC,synonymous_variant,p.=,ENST00000370187,NM_033637.3;BTRC,synonymous_variant,p.=,ENST00000393441,NM_001256856.1;BTRC,synonymous_variant,p.=,ENST00000370183,;BTRC,intron_variant,,ENST00000408038,NM_003939.4;BTRC,non_coding_transcript_exon_variant,,ENST00000475200,;BTRC,intron_variant,,ENST00000465182,;	uc001kta.2	c.144C>T	262/6134	2	2			c.144C>T						10	SNP	c.(142-144)CTC>CTT	48	48			ovary(1)	1	Broad	beta-transducin repeat containing protein			103190197		0.527	ENSG00000166167	1535	g.chr10:103190197C>T	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				243			243	184.980356	KEEP	26	37	-1	14	6	26	37	-1	189.471684	14	6	0.753247	1	0	0	0	0	0	0	1	0	--	--		0	T			BTRC_uc001ksz.1_Intron|BTRC_uc001ktb.2_Intron|BTRC_uc001ktc.2_Silent_p.L48L	218	GBM-28-5209-TP	p.L48L	C	CTGGCGCACTCACAGCTTTCC	NM_033637	NP_378663	103190197	Q9Y297	FBW1A_HUMAN	0		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	2	257	+	T	T		Colorectal(252;0.234)	Silent	48						
BUB1	699	broad.mit.edu	GRCh37	2	111408233	111408233	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0213-01	TCGA-06-0213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302759.6:c.2093G>A	p.Cys698Tyr	p.C698Y	ENST00000302759	NM_004336.4	698	tGc/tAc	0			1			T	C/Y	uc002tgc.2	protein_coding	YES	CCDS33273.1			2093/3258									lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7	c.(2092-2094)TGC>TAC			hmmpanther:PTHR14030,hmmpanther:PTHR14030:SF3	budding uninhibited by benzimidazoles 1				ENSP00000302530		18/25									rs764154158,COSM2982992	18/25	.		ENST00000302759	Transcript	1		apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	ENSG00000169679	g.chr2:111408233C>T	1148			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=BUB1_HUMAN&rb=521&re=759&var=C698Y	NA	getma.org/?cm=var&var=hg19,2,111408233,C,T&fts=all	C698Y	--	--	1																																		BUB1_uc010yxh.1_Missense_Mutation_p.C678Y|BUB1_uc010fkb.2_Missense_Mutation_p.C698Y	0,1	1		benign(0.006)	p.C698Y	NM_004336	NP_004327		tolerated(0.18)	0,1	BUB1_HUMAN	BUB1	HGNC	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	Q9BXX5_HUMAN,C9JRC7_HUMAN,C9JQA4_HUMAN,C9IYH4_HUMAN		18	2205	-		Ovarian(717;0.0822)	UPI00000012C4	698					SNV	BUB1,missense_variant,p.Cys678Tyr,ENST00000535254,NM_001278616.1;BUB1,missense_variant,p.Cys698Tyr,ENST00000302759,NM_004336.4;BUB1,missense_variant,p.Cys698Tyr,ENST00000409311,NM_001278617.1;BUB1,non_coding_transcript_exon_variant,,ENST00000466333,;BUB1,non_coding_transcript_exon_variant,,ENST00000490632,;	uc002tgc.2	c.2093G>A	2212/3507	2	2			c.2093G>A						2	SNP	c.(2092-2094)TGC>TAC	48	48			lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7	Broad	budding uninhibited by benzimidazoles 1			111408233		0.532	ENSG00000169679	1536	g.chr2:111408233C>T	apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			375			375	32.074215	KEEP	9	5	-1	19	16	9	5	-1	33.027559	19	16	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	T			BUB1_uc010yxh.1_Missense_Mutation_p.C678Y|BUB1_uc010fkb.2_Missense_Mutation_p.C698Y	49	GBM-06-0213-TP	p.C698Y	C	TGTGAGTCTGCAAGCCTCAAC	NM_004336	NP_004327	111408233	O43683	BUB1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.0556)	18	2205	-	T	T		Ovarian(717;0.0822)	Missense_Mutation	698						
BUD13	84811	broad.mit.edu	GRCh37	11	116627935	116627935	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5417-01	TCGA-06-5417-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260210.4:c.1693C>T	p.Arg565Cys	p.R565C	ENST00000260210	NM_032725.3	565	Cgc/Tgc	0			1			A	R/C	uc001ppn.2	protein_coding	YES	CCDS8374.1			1693/1860									large_intestine(1)|pancreas(1)	2	c.(1693-1695)CGC>TGC			Pfam_domain:PF09736,hmmpanther:PTHR31809	BUD13 homolog isoform 1				ENSP00000260210		10-Sep	1.65E-05							0.000124	rs772347423,COSM2153300	10-Sep	.		ENST00000260210	Transcript						ENSG00000137656	g.chr11:116627935G>A	28199			MODERATE		1.62	low	getma.org/?cm=msa&ty=f&p=BUD13_HUMAN&rb=460&re=603&var=R565C	NA	getma.org/?cm=var&var=hg19,11,116627935,G,A&fts=all	R565C	--	--	1																																		BUD13_uc001ppo.2_Missense_Mutation_p.R431C	0,1	1		benign(0.154)	p.R565C	NM_032725	NP_116114		deleterious(0.04)	0,1	BUD13_HUMAN	BUD13	HGNC	Q9BRD0	BUD13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)			9	1727	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	UPI0000072AE6	565					SNV	BUD13,missense_variant,p.Arg565Cys,ENST00000260210,NM_032725.3;BUD13,missense_variant,p.Arg431Cys,ENST00000375445,NM_001159736.1;BUD13,3_prime_UTR_variant,,ENST00000419189,;	uc001ppn.2	c.1693C>T	1717/2196	2	2			c.1693C>T						11	SNP	c.(1693-1695)CGC>TGC	17	17			large_intestine(1)|pancreas(1)	2	Broad	BUD13 homolog isoform 1			116627935		0.398	ENSG00000137656	1539	g.chr11:116627935G>A										94.414877	KEEP	17	15	-1	16	28	17	15	-1	94.614145	16	28	0.442857	1	0	0	0	0	1	0	0	0	--	--		0	A			BUD13_uc001ppo.2_Missense_Mutation_p.R431C	99	GBM-06-5417-TP	p.R565C	G	CCACTGTAGCGAGGTCTCACT	NM_032725	NP_116114	116627935	Q9BRD0	BUD13_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)	9	1727	-	A	A	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	Missense_Mutation	565						
POPDC1	0	broad.mit.edu	GRCh37	6	105573416	105573416	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1823-01	TCGA-14-1823-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314641.5:c.389G>A	p.Arg130Gln	p.R130Q	ENST00000314641	NM_001199563.1	130	cGa/cAa	0			1			T	R/Q	uc003pqw.2	protein_coding	YES	CCDS5051.1			389/1083										0	c.(388-390)CGA>CAA			Pfam_domain:PF04831,hmmpanther:PTHR12101:SF17,hmmpanther:PTHR12101	blood vessel epicardial substance isoform 5				ENSP00000313172		8-Apr									COSM3410517	8-Apr	.		ENST00000314641	Transcript			epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	ENSG00000112276	g.chr6:105573416C>T	1152			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=POPD1_HUMAN&rb=123&re=276&var=R130Q	NA	getma.org/?cm=var&var=hg19,6,105573416,C,T&fts=all	R130Q	--	--	1																																		BVES_uc003pqx.2_Missense_Mutation_p.R130Q|BVES_uc003pqy.2_Missense_Mutation_p.R130Q	1	1		probably_damaging(0.989)	p.R130Q	NM_147147	NP_671488		deleterious(0.03)	1	POPD1_HUMAN	BVES	HGNC	Q8NE79	POPD1_HUMAN					4	546	-		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	UPI000006EFF7	130			Cytoplasmic (Potential).		SNV	BVES,missense_variant,p.Arg130Gln,ENST00000314641,NM_001199563.1;BVES,missense_variant,p.Arg130Gln,ENST00000336775,NM_007073.4;BVES,missense_variant,p.Arg130Gln,ENST00000446408,NM_147147.3;	uc003pqw.2	c.389G>A	606/5567	1	1			c.389G>A						6	SNP	c.(388-390)CGA>CAA	16	16				0	Broad	blood vessel epicardial substance isoform 5			105573416		0.443	ENSG00000112276	1541	g.chr6:105573416C>T	epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity							-21.812669	KEEP	4	3	-1	90	73	4	3	-1	14.144848	90	73	0.043478	1	0	0	0	0	1	0	0	0	--	--		0	T			BVES_uc003pqx.2_Missense_Mutation_p.R130Q|BVES_uc003pqy.2_Missense_Mutation_p.R130Q	147	GBM-14-1823-TP	p.R130Q	C	TTCAAACAATCGCCGGTACAT	NM_147147	NP_671488	105573416	Q8NE79	POPD1_HUMAN	0			4	546	-	T	T		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	Missense_Mutation	130			Cytoplasmic (Potential).			
POPDC1	0	broad.mit.edu	GRCh37	6	105549004	105549004	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs138992583		TCGA-32-2494-01	TCGA-32-2494-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314641.5:c.1043C>T	p.Pro348Leu	p.P348L	ENST00000314641	NM_001199563.1	348	cCg/cTg	0			1			A	P/L	uc003pqw.2	protein_coding	YES	CCDS5051.1			1043/1083										0	c.(1042-1044)CCG>CTG			hmmpanther:PTHR12101:SF17,hmmpanther:PTHR12101	blood vessel epicardial substance isoform 5				ENSP00000313172		8-Aug	6.59E-05		8.64E-05	0.000231		4.51E-05		0.000124	rs138992583,COSM3410516	8-Aug	.		ENST00000314641	Transcript			epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	ENSG00000112276	g.chr6:105549004G>A	1152			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=POPD1_HUMAN&rb=277&re=360&var=P348L	NA	getma.org/?cm=var&var=hg19,6,105549004,G,A&fts=all	P348L	--	--	1																																		BVES_uc003pqx.2_Missense_Mutation_p.P348L|BVES_uc003pqy.2_Missense_Mutation_p.P348L	0,1	1		benign(0.001)	p.P348L	NM_147147	NP_671488		tolerated_low_confidence(0.06)	0,1	POPD1_HUMAN	BVES	HGNC	Q8NE79	POPD1_HUMAN					8	1200	-		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	UPI000006EFF7	348			Cytoplasmic (Potential).		SNV	BVES,missense_variant,p.Pro348Leu,ENST00000314641,NM_001199563.1;BVES,missense_variant,p.Pro348Leu,ENST00000336775,NM_007073.4;BVES,missense_variant,p.Pro348Leu,ENST00000446408,NM_147147.3;	uc003pqw.2	c.1043C>T	1260/5567	2	2			c.1043C>T						6	SNP	c.(1042-1044)CCG>CTG	48	48				0	Broad	blood vessel epicardial substance isoform 5			105549004		0.453	ENSG00000112276	1541	g.chr6:105549004G>A	epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity							-29.700793	KEEP	0	3	-1	77	77	0	3	-1	7.011607	77	77	0.020979	1	0	0	0	0	1	0	0	0	--	--		0	A			BVES_uc003pqx.2_Missense_Mutation_p.P348L|BVES_uc003pqy.2_Missense_Mutation_p.P348L	236	GBM-32-2494-TP	p.P348L	G	TGGAGATGCCGGTTCAAAAAC	NM_147147	NP_671488	105549004	Q8NE79	POPD1_HUMAN	0			8	1200	-	A	A		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	Missense_Mutation	348			Cytoplasmic (Potential).			
POPDC1	0	broad.mit.edu	GRCh37	6	105577294	105577294	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-81-5910-01	TCGA-81-5910-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314641.5:c.311A>G	p.Asn104Ser	p.N104S	ENST00000314641	NM_001199563.1	104	aAc/aGc	0		C:0	1	C:0		C	N/S	uc003pqw.2	protein_coding	YES	CCDS5051.1			311/1083										0	c.(310-312)AAC>AGC			hmmpanther:PTHR12101:SF17,hmmpanther:PTHR12101,Transmembrane_helices:TMhelix	blood vessel epicardial substance isoform 5		C:0		ENSP00000313172	C:0	8-Mar	8.24E-06							6.07E-05	rs574287099,COSM3410518	8-Mar	.		ENST00000314641	Transcript		C:0.0002	epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	ENSG00000112276	g.chr6:105577294T>C	1152			MODERATE		2.75	medium	getma.org/?cm=msa&ty=f&p=POPD1_HUMAN&rb=1&re=122&var=N104S	NA	getma.org/?cm=var&var=hg19,6,105577294,T,C&fts=all	N104S	--	--	1																																		BVES_uc003pqx.2_Missense_Mutation_p.N104S|BVES_uc003pqy.2_Missense_Mutation_p.N104S	0,1	1		benign(0.194)	p.N104S	NM_147147	NP_671488	C:0.001	deleterious(0.01)	0,1	POPD1_HUMAN	BVES	HGNC	Q8NE79	POPD1_HUMAN					3	468	-		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	UPI000006EFF7	104			Helical; (Potential).		SNV	BVES,missense_variant,p.Asn104Ser,ENST00000314641,NM_001199563.1;BVES,missense_variant,p.Asn104Ser,ENST00000336775,NM_007073.4;BVES,missense_variant,p.Asn104Ser,ENST00000446408,NM_147147.3;	uc003pqw.2	c.311A>G	528/5567	3	3			c.311A>G						6	SNP	c.(310-312)AAC>AGC	13	13				0	Broad	blood vessel epicardial substance isoform 5			105577294		0.363	ENSG00000112276	1541	g.chr6:105577294T>C	epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity							77.84563	KEEP	11	12	-1	10	20	11	12	-1	78.054448	10	20	0.431373	1	0	0	0	0	1	0	0	0	--	--		0	C			BVES_uc003pqx.2_Missense_Mutation_p.N104S|BVES_uc003pqy.2_Missense_Mutation_p.N104S	289	GBM-81-5910-TP	p.N104S	T	ATGCAAAATGTTGACACCCAA	NM_147147	NP_671488	105577294	Q8NE79	POPD1_HUMAN	0			3	468	-	C	C		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	Missense_Mutation	104			Helical; (Potential).			
BZRAP1	0	broad.mit.edu	GRCh37	17	56382781	56382781	+	synonymous_variant	Silent	SNP	C	C	A	rs149705380	byFrequency	TCGA-02-0033-01	TCGA-02-0033-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343736.4:c.5400G>T	p.Val1800=	p.V1800=	ENST00000343736		1800	gtG/gtT	0			1			A	V	uc002ivx.3	protein_coding	YES	CCDS11605.1			5400/5574									upper_aerodigestive_tract(2)|skin(1)	3	c.(5398-5400)GTG>GTT			PROSITE_profiles:PS50002,hmmpanther:PTHR14234:SF20,hmmpanther:PTHR14234,Gene3D:2.30.30.40,Pfam_domain:PF07653,SMART_domains:SM00326,Superfamily_domains:SSF50044	peripheral benzodiazepine receptor-associated				ENSP00000345824		29/32									COSM2148969,COSM2148970	29/32	.		ENST00000343736	Transcript				mitochondrion	benzodiazepine receptor binding	ENSG00000005379	g.chr17:56382781C>A	16831			LOW								--	--	1																																		BZRAP1_uc002ivv.2_5'Flank|BZRAP1_uc002ivw.2_Silent_p.V32V|BZRAP1_uc010dcs.2_Silent_p.V1740V|BZRAP1_uc010wnt.1_Silent_p.V1791V	1,1	1			p.V1800V	NM_004758	NP_004749			1,1	RIMB1_HUMAN	BZRAP1	HGNC	O95153	RIMB1_HUMAN					29	6271	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		UPI000013D7E3	1800			SH3 3.		SNV	BZRAP1,synonymous_variant,p.=,ENST00000355701,NM_004758.3,NM_001261835.1;BZRAP1,synonymous_variant,p.=,ENST00000268893,NM_024418.2;BZRAP1,synonymous_variant,p.=,ENST00000343736,;BZRAP1,synonymous_variant,p.=,ENST00000581675,;BZRAP1,synonymous_variant,p.=,ENST00000580669,;BZRAP1,downstream_gene_variant,,ENST00000582679,;BZRAP1,non_coding_transcript_exon_variant,,ENST00000578511,;BZRAP1,non_coding_transcript_exon_variant,,ENST00000577871,;BZRAP1,upstream_gene_variant,,ENST00000581692,;BZRAP1,downstream_gene_variant,,ENST00000578486,;	uc002ivx.3	c.5400G>T	5564/5947	2	2			c.5400G>T						17	SNP	c.(5398-5400)GTG>GTT	25	25			upper_aerodigestive_tract(2)|skin(1)	3	Broad	peripheral benzodiazepine receptor-associated			56382781		0.587	ENSG00000005379	1543	g.chr17:56382781C>A		mitochondrion	benzodiazepine receptor binding							101.93149	KEEP	23	19	0.452380952	44	69	23	19	0.452380952	108.129937	44	69	0.274074	1	0	0	0	0	0	0	1	0	--	--		0	A			BZRAP1_uc002ivv.2_5'Flank|BZRAP1_uc002ivw.2_Silent_p.V32V|BZRAP1_uc010dcs.2_Silent_p.V1740V|BZRAP1_uc010wnt.1_Silent_p.V1791V	2	GBM-02-0033-TP	p.V1800V	C	TGCCCCCAAACACAGTAATGA	NM_004758	NP_004749	56382781	O95153	RIMB1_HUMAN	0			29	6271	-	A	A	Medulloblastoma(34;0.127)|all_neural(34;0.237)		Silent	1800			SH3 3.			
C10orf12	0	broad.mit.edu	GRCh37	10	98741746	98741746	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01	TCGA-06-5415-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286067.2:c.599G>A	p.Cys200Tyr	p.C200Y	ENST00000286067	NM_015652.2	200	tGt/tAt	0			1			A	C/Y	uc001kmv.2	protein_coding	YES	CCDS7452.1			599/3744									skin(2)	2	c.(598-600)TGT>TAT			hmmpanther:PTHR14931,hmmpanther:PTHR14931:SF2	hypothetical protein LOC26148				ENSP00000286067		1-Jan									COSM2153218	1-Jan	.		ENST00000286067	Transcript						ENSG00000155640	g.chr10:98741746G>A	23420			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=CJ012_HUMAN&rb=106&re=219&var=C200Y	NA	getma.org/?cm=var&var=hg19,10,98741746,G,A&fts=all	C200Y	--	--	1																																		C10orf12_uc009xvg.1_Missense_Mutation_p.C510Y	1	1		probably_damaging(0.986)	p.C200Y	NM_015652	NP_056467		tolerated(0.15)	1	CJ012_HUMAN	C10orf12	HGNC	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)			1	706	+		Colorectal(252;0.172)	UPI000006F242	200					SNV	C10orf12,missense_variant,p.Cys200Tyr,ENST00000286067,NM_015652.2;LCOR,downstream_gene_variant,,ENST00000498444,;	uc001kmv.2	c.599G>A	706/4542	2	2			c.599G>A						10	SNP	c.(598-600)TGT>TAT	18	18			skin(2)	2	Broad	hypothetical protein LOC26148			98741746		0.423	ENSG00000155640	1555	g.chr10:98741746G>A										245.489125	KEEP	45	44	-1	31	28	45	44	-1	247.469096	31	28	0.632812	1	0	0	0	0	1	0	0	0	--	--		0	A			C10orf12_uc009xvg.1_Missense_Mutation_p.C510Y	98	GBM-06-5415-TP	p.C200Y	G	AATGGTGACTGTTGTGAGCTG	NM_015652	NP_056467	98741746	Q8N655	CJ012_HUMAN	0		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	706	+	A	A		Colorectal(252;0.172)	Missense_Mutation	200						
C10orf12	0	broad.mit.edu	GRCh37	10	98743678	98743678	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-4935-01	TCGA-76-4935-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286067.2:c.2531G>T	p.Arg844Met	p.R844M	ENST00000286067	NM_015652.2	844	aGg/aTg	0			1			T	R/M	uc001kmv.2	protein_coding	YES	CCDS7452.1			2531/3744									skin(2)	2	c.(2530-2532)AGG>ATG			Pfam_domain:PF15090,hmmpanther:PTHR14931,hmmpanther:PTHR14931:SF2,Low_complexity_(Seg):seg	hypothetical protein LOC26148				ENSP00000286067		1-Jan									COSM3397335	1-Jan	.		ENST00000286067	Transcript						ENSG00000155640	g.chr10:98743678G>T	23420			MODERATE		1.78	low	getma.org/?cm=msa&ty=f&p=CJ012_HUMAN&rb=777&re=1080&var=R844M	NA	getma.org/?cm=var&var=hg19,10,98743678,G,T&fts=all	R844M	--	--	1																																			1	1		probably_damaging(1)	p.R844M	NM_015652	NP_056467		deleterious(0)	1	CJ012_HUMAN	C10orf12	HGNC	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)			1	2638	+		Colorectal(252;0.172)	UPI000006F242	844					SNV	C10orf12,missense_variant,p.Arg844Met,ENST00000286067,NM_015652.2;LCOR,downstream_gene_variant,,ENST00000498444,;	uc001kmv.2	c.2531G>T	2638/4542	2	2			c.2531G>T						10	SNP	c.(2530-2532)AGG>ATG	43	43			skin(2)	2	Broad	hypothetical protein LOC26148			98743678		0.393	ENSG00000155640	1555	g.chr10:98743678G>T										4.003795	KEEP	3	3	0.5	29	29	3	3	0.5	12.837429	29	29	0.105263	1	0	0	0	0	1	0	0	0	--	--		0	T				273	GBM-76-4935-TP	p.R844M	G	AGCAAGAAAAGGTCACGGAAA	NM_015652	NP_056467	98743678	Q8N655	CJ012_HUMAN	0		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	2638	+	T	T		Colorectal(252;0.172)	Missense_Mutation	844						
C10orf53	0	broad.mit.edu	GRCh37	10	50901822	50901822	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-5959-01	TCGA-19-5959-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374111.3:c.100G>T	p.Val34Leu	p.V34L	ENST00000374111	NM_001042427.1	34	Gtg/Ttg	0			1			T	V/L	uc001jib.2	protein_coding		CCDS41521.1			100/282										0	c.(100-102)GTG>TTG			Pfam_domain:PF15092	chromosome 10 open reading frame 53 isoform b				ENSP00000363225		3-Feb	8.24E-06		8.64E-05						rs769258153,COSM3397158,COSM3397159,COSM3397160	3-Feb	.		ENST00000374111	Transcript						ENSG00000178645	g.chr10:50901822G>T	27421			MODERATE		1.625	low	getma.org/?cm=msa&ty=f&p=B9ZVK6_HUMAN&rb=1&re=79&var=V34L	NA	getma.org/?cm=var&var=hg19,10,50901822,G,T&fts=all	V34L	--	--	1																																		CHAT_uc010qgs.1_Silent_p.L542L|C10orf53_uc001jic.1_Missense_Mutation_p.V34L|C10orf53_uc001jid.1_Missense_Mutation_p.V34L	0,1,1,1			probably_damaging(0.996)	p.V34L	NM_001042427	NP_001035892		tolerated(0.16)	0,1,1,1	CJ053_HUMAN	C10orf53	HGNC	Q8N6V4	CJ053_HUMAN					2	160	+		all_neural(218;0.107)	UPI000059D14D	34					SNV	C10orf53,missense_variant,p.Val34Leu,ENST00000374113,;C10orf53,missense_variant,p.Val34Leu,ENST00000374112,NM_182554.2;C10orf53,missense_variant,p.Val34Leu,ENST00000535836,NM_182554.2;C10orf53,missense_variant,p.Val34Leu,ENST00000374111,NM_001042427.1;CHAT,splice_region_variant,p.=,ENST00000455728,;	uc001jib.2	c.100G>T	112/799	2	2			c.100G>T						10	SNP	c.(100-102)GTG>TTG	37	37				0	Broad	chromosome 10 open reading frame 53 isoform b			50901822		0.468	ENSG00000178645	1572	g.chr10:50901822G>T										101.197598	KEEP	11	20	0.35483871	1	3	11	20	0.35483871	105.83693	1	3	0.878788	1	0	0	0	0	1	0	0	0	--	--		0	T			CHAT_uc010qgs.1_Silent_p.L542L|C10orf53_uc001jic.1_Missense_Mutation_p.V34L|C10orf53_uc001jid.1_Missense_Mutation_p.V34L	177	GBM-19-5959-TP	p.V34L	G	CTTCCCAGCTGTGTTGGCCAT	NM_001042427	NP_001035892	50901822	Q8N6V4	CJ053_HUMAN	0			2	160	+	T	T		all_neural(218;0.107)	Missense_Mutation	34						
C10orf54	0	broad.mit.edu	GRCh37	10	73521395	73521395	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-14-0786-01	TCGA-14-0786-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394957.3:c.471G>C	p.Glu157Asp	p.E157D	ENST00000394957	NM_022153.1	157	gaG/gaC	0			1			G	E/D	uc001jsd.2	protein_coding	YES	CCDS31218.1			471/936									ovary(1)|breast(1)|central_nervous_system(1)	3	c.(469-471)GAG>GAC			hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF66,Gene3D:2.60.40.10,SMART_domains:SM00409	platelet receptor Gi24 precursor				ENSP00000378409		7-Feb									COSM3397233	7-Feb	.		ENST00000394957	Transcript				integral to membrane	receptor activity	ENSG00000107738	g.chr10:73521395C>G	30085			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=GI24_HUMAN&rb=32&re=168&var=E157D	getma.org/pdb.php?prot=GI24_HUMAN&from=32&to=168&var=E157D	getma.org/?cm=var&var=hg19,10,73521395,C,G&fts=all	E157D	--	--	1																																		CDH23_uc001jrx.3_Intron|C10orf54_uc001jse.2_Missense_Mutation_p.E25D|C10orf54_uc009xqm.2_Intron|C10orf54_uc001jsf.1_Missense_Mutation_p.E157D	1	1		benign(0.011)	p.E157D	NM_022153	NP_071436		tolerated(0.19)	1	GI24_HUMAN	C10orf54	HGNC	Q9H7M9	GI24_HUMAN					2	612	-			UPI000004781D	157			Ig-like.|Extracellular (Potential).		SNV	C10orf54,missense_variant,p.Glu157Asp,ENST00000394957,NM_022153.1;CDH23,intron_variant,,ENST00000224721,NM_022124.5;C10orf54,upstream_gene_variant,,ENST00000470317,;C10orf54,non_coding_transcript_exon_variant,,ENST00000481568,;	uc001jsd.2	c.471G>C	530/4689	3	3			c.471G>C						10	SNP	c.(469-471)GAG>GAC	54	54			ovary(1)|breast(1)|central_nervous_system(1)	3	Broad	platelet receptor Gi24 precursor			73521395		0.617	ENSG00000107738	1573	g.chr10:73521395C>G		integral to membrane	receptor activity							5.653773	KEEP	0	2	-1	6	6	0	2	-1	6.483565	6	6	0.2	1	0	0	0	0	1	0	0	0	--	--		0	G			CDH23_uc001jrx.3_Intron|C10orf54_uc001jse.2_Missense_Mutation_p.E25D|C10orf54_uc009xqm.2_Intron|C10orf54_uc001jsf.1_Missense_Mutation_p.E157D	134	GBM-14-0786-TP	p.E157D	C	GGACCCTGTGCTCCGAGTGGT	NM_022153	NP_071436	73521395	Q9H7M9	GI24_HUMAN	0			2	612	-	G	G			Missense_Mutation	157			Ig-like.|Extracellular (Potential).			
C10ORF68	0	broad.mit.edu	GRCh37	10	33000595	33000595	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-2619-01	TCGA-19-2619-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375025.4:c.427T>C	p.Ser143Pro	p.S143P	ENST00000375025		143	Tca/Cca	0			1			C	S/P	uc001iwn.3	protein_coding					427/2079									skin(2)|ovary(1)	3	c.(427-429)TCA>CCA				chromosome 10 open reading frame 68				ENSP00000364165		22-May									COSM2156176,COSM3397095	22-May	.		ENST00000375025	Transcript						ENSG00000150076	g.chr10:33000595T>C				MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=CJ068_HUMAN&rb=1&re=626&var=S143P	NA	getma.org/?cm=var&var=hg19,10,33000595,T,C&fts=all	S143P	--	--	1																																		C10orf68_uc001iwl.1_Missense_Mutation_p.S151P|C10orf68_uc001iwm.1_Missense_Mutation_p.S119P|C10orf68_uc010qei.1_Missense_Mutation_p.S70P	1,1			benign(0.334)	p.S143P	NM_024688	NP_078964		tolerated(0.08)	1,1	CJ068_HUMAN	C10ORF68	Uniprot_gn	Q9H943	CJ068_HUMAN					7	900	+			UPI0000D60F36	143					SNV	C10ORF68,missense_variant,p.Ser151Pro,ENST00000375030,;C10ORF68,missense_variant,p.Ser119Pro,ENST00000375028,;C10ORF68,missense_variant,p.Ser143Pro,ENST00000375025,;C10ORF68,missense_variant,p.Ser143Pro,ENST00000302316,NM_024688.2;	uc001iwn.3	c.427T>C	427/2079	4	4			c.427T>C						10	SNP	c.(427-429)TCA>CCA	46	46			skin(2)|ovary(1)	3	Broad	chromosome 10 open reading frame 68			33000595		0.308	ENSG00000150076	1578	g.chr10:33000595T>C										134.575182	KEEP	22	20	-1	8	5	22	20	-1	137.254663	8	5	0.755556	1	0	0	0	0	1	0	0	0	--	--		0	C			C10orf68_uc001iwl.1_Missense_Mutation_p.S151P|C10orf68_uc001iwm.1_Missense_Mutation_p.S119P|C10orf68_uc010qei.1_Missense_Mutation_p.S70P	161	GBM-19-2619-TP	p.S143P	T	ACATCAAGATTCAGTGTCAAA	NM_024688	NP_078964	33000595	Q9H943	CJ068_HUMAN	0			7	900	+	C	C			Missense_Mutation	143						
C10orf71	118461	broad.mit.edu	GRCh37	10	50531485	50531485	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01	TCGA-06-0166-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374144.3:c.895G>A	p.Glu299Lys	p.E299K	ENST00000374144		299	Gaa/Aaa	0			1			A	E/K	uc010qgp.1	protein_coding	YES	CCDS44387.1			895/4308										0	c.(895-897)GAA>AAA				hypothetical protein LOC118461 isoform 2				ENSP00000363259		3-Mar									COSM2150169,COSM2150168	3-Mar	.		ENST00000374144	Transcript						ENSG00000177354	g.chr10:50531485G>A	26973			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=CJ071_HUMAN&rb=2&re=699&var=E299K	NA	getma.org/?cm=var&var=hg19,10,50531485,G,A&fts=all	E299K	--	--	1																																			1,1	1		probably_damaging(0.957)	p.E299K	NM_199459	NP_955629		tolerated(0.31)	1,1	CJ071_HUMAN	C10orf71	HGNC	Q711Q0	CJ071_HUMAN					3	1234	+			UPI0000161572	299					SNV	C10orf71,missense_variant,p.Glu299Lys,ENST00000374144,;C10orf71,missense_variant,p.Glu299Lys,ENST00000323868,NM_001135196.1;	uc010qgp.1	c.895G>A	1183/5230	1	1			c.895G>A						10	SNP	c.(895-897)GAA>AAA	56	56				0	Broad	hypothetical protein LOC118461 isoform 2			50531485		0.542	ENSG00000177354	1579	g.chr10:50531485G>A										50.455089	KEEP	8	13	-1	21	19	8	13	-1	51.968373	21	19	0.320755	1	0	0	0	0	1	0	0	0	--	--		0	A				31	GBM-06-0166-TP	p.E299K	G	AACCGTCCCAGAAAGCAAAGC	NM_199459	NP_955629	50531485	Q711Q0	CJ071_HUMAN	0			3	1234	+	A	A			Missense_Mutation	299						
C10orf71	118461	broad.mit.edu	GRCh37	10	50532018	50532018	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0939-01	TCGA-06-0939-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374144.3:c.1428C>T	p.Asn476=	p.N476=	ENST00000374144		476	aaC/aaT	0	T:0.0002		1			T	N	uc010qgp.1	protein_coding	YES	CCDS44387.1			1428/4308										0	c.(1426-1428)AAC>AAT				hypothetical protein LOC118461 isoform 2			T:0.0001	ENSP00000363259		3-Mar	6.61E-05	0.000312				3.04E-05		0.000183	rs374214345,COSM3397151,COSM3397150	3-Mar	.		ENST00000374144	Transcript						ENSG00000177354	g.chr10:50532018C>T	26973			LOW								--	--	1																																			0,1,1	1			p.N476N	NM_199459	NP_955629			0,1,1	CJ071_HUMAN	C10orf71	HGNC	Q711Q0	CJ071_HUMAN					3	1767	+			UPI0000161572	476					SNV	C10orf71,synonymous_variant,p.=,ENST00000374144,;C10orf71,synonymous_variant,p.=,ENST00000323868,NM_001135196.1;	uc010qgp.1	c.1428C>T	1716/5230	2	2			c.1428C>T						10	SNP	c.(1426-1428)AAC>AAT	21	21				0	Broad	hypothetical protein LOC118461 isoform 2			50532018		0.572	ENSG00000177354	1579	g.chr10:50532018C>T										45.423768	KEEP	4	11	-1	7	8	4	11	-1	45.423768	7	8	0.5	1	0	0	0	0	0	0	1	0	--	--		0	T				78	GBM-06-0939-TP	p.N476N	C	GACAGCTAAACGGATACCAAG	NM_199459	NP_955629	50532018	Q711Q0	CJ071_HUMAN	0			3	1767	+	T	T			Silent	476						
C10orf71	0	broad.mit.edu	GRCh37	10	50530623	50530623	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6695-01	TCGA-06-6695-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374144.3:c.33G>A	p.Ala11=	p.A11=	ENST00000374144		11	gcG/gcA	0	A:0.0002		1			A	A	uc010qgp.1	protein_coding	YES	CCDS44387.1			33/4308										0	c.(31-33)GCG>GCA				hypothetical protein LOC118461 isoform 2			A:0	ENSP00000363259		3-Mar	8.25E-06						0.00146		rs370127754,COSM295902,COSM295901	3-Mar	.		ENST00000374144	Transcript						ENSG00000177354	g.chr10:50530623G>A	26973			LOW								--	--	1																																			0,1,1	1			p.A11A	NM_199459	NP_955629			0,1,1	CJ071_HUMAN	C10orf71	HGNC	Q711Q0	CJ071_HUMAN					3	372	+			UPI0000161572	11					SNV	C10orf71,synonymous_variant,p.=,ENST00000374144,;C10orf71,synonymous_variant,p.=,ENST00000323868,NM_001135196.1;	uc010qgp.1	c.33G>A	321/5230	1	1			c.33G>A						10	SNP	c.(31-33)GCG>GCA	61	61				0	Broad	hypothetical protein LOC118461 isoform 2			50530623		0.542	ENSG00000177354	1579	g.chr10:50530623G>A										27.377437	KEEP	2	8	-1	1	5	2	8	-1	27.628749	1	5	0.642857	1	0	0	0	0	0	0	1	0	--	--		0	A				110	GBM-06-6695-TP	p.A11A	G	GCACAGACGCGTTCAGCGACT	NM_199459	NP_955629	50530623	Q711Q0	CJ071_HUMAN	0			3	372	+	A	A			Silent	11						
C10orf76	0	broad.mit.edu	GRCh37	10	103716424	103716424	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-19-5960-01	TCGA-19-5960-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370033.4:c.1635delC	p.Ser546AlafsTer25	p.S546Afs*25	ENST00000370033	NM_024541.2	545	ccC/cc	0			1			-	P/X	uc009xwy.1	protein_coding	YES	CCDS41563.1			1635/2070										0	c.(1633-1635)CCCfs			Pfam_domain:PF08427,hmmpanther:PTHR13608,hmmpanther:PTHR13608:SF3,Superfamily_domains:SSF48371	hypothetical protein LOC79591				ENSP00000359050		22/26										22/26	.		ENST00000370033	Transcript				integral to membrane		ENSG00000120029	g.chr10:103716424delG	25788			HIGH								--	--	1																																		C10orf76_uc009xwx.1_RNA		1			p.P545fs	NM_024541	NP_078817				CJ076_HUMAN	C10orf76	HGNC	Q5T2E6	CJ076_HUMAN		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)			22	1737	-		Colorectal(252;0.123)	UPI000047005B	545					deletion	C10orf76,frameshift_variant,p.Ser546AlafsTer25,ENST00000370033,NM_024541.2;Y_RNA,upstream_gene_variant,,ENST00000410498,;	uc009xwy.1	c.1635delC	1755/4119	5	5			c.1635delC						10	DEL	c.(1633-1635)CCCfs	14	14				0	Broad	hypothetical protein LOC79591			103716424		0.408	ENSG00000120029	1581	g.chr10:103716424delG		integral to membrane																					0.78	1	1	0	1	0	0	0	0	0	--	--		0	-			C10orf76_uc009xwx.1_RNA	178	GBM-19-5960-TP	p.P545fs	G	CATAGCTGCTGGGGGTTGGCA	NM_024541	NP_078817	103716424	Q5T2E6	CJ076_HUMAN	0		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)	22	1737	-	-	-		Colorectal(252;0.123)	Frame_Shift_Del	545						
C11orf30	0	broad.mit.edu	GRCh37	11	76164415	76164415	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-16-0861-01	TCGA-16-0861-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334736.3:c.228A>C	p.Leu76Phe	p.L76F	ENST00000334736	NM_020193.3	76	ttA/ttC	0			1			C	L/F	uc001oxl.2	protein_coding		CCDS8244.1			228/3969									ovary(5)|skin(1)	6	c.(226-228)TTA>TTC			PROSITE_profiles:PS51138,hmmpanther:PTHR16500,hmmpanther:PTHR16500:SF2,Pfam_domain:PF03735,Superfamily_domains:0053920	EMSY protein				ENSP00000334130		21-Apr									COSM3398141	21-Apr	.		ENST00000334736	Transcript			chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		ENSG00000158636	g.chr11:76164415A>C	18071			MODERATE		2.67	medium	getma.org/?cm=msa&ty=f&p=EMSY_HUMAN&rb=16&re=88&var=L76F	getma.org/pdb.php?prot=EMSY_HUMAN&from=16&to=88&var=L76F	getma.org/?cm=var&var=hg19,11,76164415,A,C&fts=all	L76F	--	--	1																																		C11orf30_uc001oxj.2_Missense_Mutation_p.L76F|C11orf30_uc001oxk.2_Missense_Mutation_p.L76F|C11orf30_uc009yuj.1_Missense_Mutation_p.L76F|C11orf30_uc010rsa.1_Missense_Mutation_p.L76F|C11orf30_uc001oxm.2_Missense_Mutation_p.L76F|C11orf30_uc010rsb.1_Missense_Mutation_p.L76F|C11orf30_uc010rsc.1_Missense_Mutation_p.L76F|C11orf30_uc001oxn.2_Missense_Mutation_p.L76F|C11orf30_uc010rsd.1_Missense_Mutation_p.L76F	1			probably_damaging(0.971)	p.L76F	NM_020193	NP_064578		deleterious_low_confidence(0)	1	EMSY_HUMAN	C11orf30	HGNC	Q7Z589	EMSY_HUMAN					4	371	+			UPI0000071307	76			Interaction with BRCA2.|ENT.		SNV	C11orf30,missense_variant,p.Leu76Phe,ENST00000529032,;C11orf30,missense_variant,p.Leu76Phe,ENST00000334736,NM_020193.3;C11orf30,missense_variant,p.Leu76Phe,ENST00000343878,;C11orf30,missense_variant,p.Leu76Phe,ENST00000525038,;C11orf30,missense_variant,p.Leu76Phe,ENST00000524767,;C11orf30,missense_variant,p.Leu76Phe,ENST00000525919,;C11orf30,missense_variant,p.Leu76Phe,ENST00000524490,;C11orf30,missense_variant,p.Leu76Phe,ENST00000533248,;C11orf30,missense_variant,p.Leu76Phe,ENST00000533988,;C11orf30,intron_variant,,ENST00000533972,;C11orf30,non_coding_transcript_exon_variant,,ENST00000525959,;C11orf30,non_coding_transcript_exon_variant,,ENST00000528826,;C11orf30,non_coding_transcript_exon_variant,,ENST00000427574,;	uc001oxl.2	c.228A>C	371/5508	3	3			c.228A>C						11	SNP	c.(226-228)TTA>TTC	51	51			ovary(5)|skin(1)	6	Broad	EMSY protein			76164415		0.403	ENSG00000158636	1599	g.chr11:76164415A>C	chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus								81.351274	KEEP	9	16	-1	16	15	9	16	-1	81.369959	16	15	0.478261	1	0	0	0	0	1	0	0	0	--	--		0	C			C11orf30_uc001oxj.2_Missense_Mutation_p.L76F|C11orf30_uc001oxk.2_Missense_Mutation_p.L76F|C11orf30_uc009yuj.1_Missense_Mutation_p.L76F|C11orf30_uc010rsa.1_Missense_Mutation_p.L76F|C11orf30_uc001oxm.2_Missense_Mutation_p.L76F|C11orf30_uc010rsb.1_Missense_Mutation_p.L76F|C11orf30_uc010rsc.1_Missense_Mutation_p.L76F|C11orf30_uc001oxn.2_Missense_Mutation_p.L76F|C11orf30_uc010rsd.1_Missense_Mutation_p.L76F	156	GBM-16-0861-TP	p.L76F	A	ATGAACGGTTAACAACAATTG	NM_020193	NP_064578	76164415	Q7Z589	EMSY_HUMAN	0			4	371	+	C	C			Missense_Mutation	76			Interaction with BRCA2.|ENT.			
C11orf35	0	broad.mit.edu	GRCh37	11	558885	558885	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2624-01	TCGA-19-2624-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329451.3:c.129C>T	p.Pro43=	p.P43=	ENST00000329451	NM_173573.2	43	ccC/ccT	0			1			A	P	uc001lpx.2	protein_coding	YES	CCDS7701.1			129/1905									pancreas(1)	1	c.(127-129)CCC>CCT			hmmpanther:PTHR19956,hmmpanther:PTHR19956:SF5	hypothetical protein LOC256329				ENSP00000331167		14-Feb									COSM3397824	14-Feb	.		ENST00000329451	Transcript						ENSG00000185522	g.chr11:558885G>A	28561			LOW								--	--	1																																		uc001lpy.2_RNA|uc001lpz.2_5'Flank|RASSF7_uc001lqa.2_5'Flank|RASSF7_uc001lqb.2_5'Flank|RASSF7_uc001lqc.2_5'Flank|RASSF7_uc001lqd.2_5'Flank	1	1			p.P43P	NM_173573	NP_775844			1	CK035_HUMAN	C11orf35	HGNC	Q8IXW0	CK035_HUMAN		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)			2	192	-		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	UPI0000456441	43					SNV	C11orf35,synonymous_variant,p.=,ENST00000329451,NM_173573.2;C11orf35,synonymous_variant,p.=,ENST00000441853,;C11orf35,synonymous_variant,p.=,ENST00000486629,;LRRC56,downstream_gene_variant,,ENST00000270115,NM_198075.3;RASSF7,upstream_gene_variant,,ENST00000397583,NM_003475.3;RASSF7,upstream_gene_variant,,ENST00000431809,;RASSF7,upstream_gene_variant,,ENST00000397582,NM_001143993.1;RASSF7,upstream_gene_variant,,ENST00000454668,NM_001143994.1;RASSF7,upstream_gene_variant,,ENST00000344375,;RASSF7,upstream_gene_variant,,ENST00000528736,;RP11-496I9.1,non_coding_transcript_exon_variant,,ENST00000527620,;RP11-496I9.1,upstream_gene_variant,,ENST00000533844,;RP11-496I9.1,upstream_gene_variant,,ENST00000527113,;RASSF7,upstream_gene_variant,,ENST00000524468,;C11orf35,non_coding_transcript_exon_variant,,ENST00000492515,;RASSF7,upstream_gene_variant,,ENST00000414138,;C11orf35,upstream_gene_variant,,ENST00000469990,;RASSF7,upstream_gene_variant,,ENST00000531112,;	uc001lpx.2	c.129C>T	192/2084	2	2			c.129C>T						11	SNP	c.(127-129)CCC>CCT	27	27			pancreas(1)	1	Broad	hypothetical protein LOC256329			558885		0.692	ENSG00000185522	1601	g.chr11:558885G>A										63.359951	KEEP	15	12	-1	23	28	15	12	-1	64.664965	23	28	0.352941	1	0	0	0	0	0	0	1	0	--	--		0	A			uc001lpy.2_RNA|uc001lpz.2_5'Flank|RASSF7_uc001lqa.2_5'Flank|RASSF7_uc001lqb.2_5'Flank|RASSF7_uc001lqc.2_5'Flank|RASSF7_uc001lqd.2_5'Flank	164	GBM-19-2624-TP	p.P43P	G	CCACCGGTGCGGGGTGGGGCG	NM_173573	NP_775844	558885	Q8IXW0	CK035_HUMAN	0		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	192	-	A	A		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	Silent	43						
C11orf35	0	broad.mit.edu	GRCh37	11	556891	556891	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01	TCGA-27-1838-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329451.3:c.920G>A	p.Arg307His	p.R307H	ENST00000329451	NM_173573.2	307	cGc/cAc	0			1			T	R/H	uc001lpx.2	protein_coding	YES	CCDS7701.1			920/1905									pancreas(1)	1	c.(919-921)CGC>CAC			hmmpanther:PTHR19956,hmmpanther:PTHR19956:SF5	hypothetical protein LOC256329				ENSP00000331167		14-Aug	1.67E-05			0.000181					rs756169752,COSM3397813	14-Aug	.		ENST00000329451	Transcript						ENSG00000185522	g.chr11:556891C>T	28561			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=CK035_HUMAN&rb=227&re=352&var=R307H	NA	getma.org/?cm=var&var=hg19,11,556891,C,T&fts=all	R307H	--	--	1																																		uc001lpy.2_5'Flank|uc001lpz.2_5'Flank	0,1	1		benign(0.266)	p.R307H	NM_173573	NP_775844		tolerated(0.14)	0,1	CK035_HUMAN	C11orf35	HGNC	Q8IXW0	CK035_HUMAN		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)			8	983	-		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	UPI0000456441	307					SNV	C11orf35,missense_variant,p.Arg307His,ENST00000329451,NM_173573.2;LRRC56,downstream_gene_variant,,ENST00000270115,NM_198075.3;RASSF7,upstream_gene_variant,,ENST00000397583,NM_003475.3;RASSF7,upstream_gene_variant,,ENST00000431809,;RASSF7,upstream_gene_variant,,ENST00000397582,NM_001143993.1;RASSF7,upstream_gene_variant,,ENST00000454668,NM_001143994.1;RASSF7,upstream_gene_variant,,ENST00000344375,;C11orf35,downstream_gene_variant,,ENST00000441853,;C11orf35,downstream_gene_variant,,ENST00000486629,;RASSF7,upstream_gene_variant,,ENST00000528736,;RP11-496I9.1,upstream_gene_variant,,ENST00000527620,;RP11-496I9.1,upstream_gene_variant,,ENST00000533844,;RP11-496I9.1,upstream_gene_variant,,ENST00000527113,;RASSF7,upstream_gene_variant,,ENST00000524468,;RASSF7,upstream_gene_variant,,ENST00000414138,;C11orf35,upstream_gene_variant,,ENST00000469990,;C11orf35,downstream_gene_variant,,ENST00000492515,;	uc001lpx.2	c.920G>A	983/2084	2	2			c.920G>A						11	SNP	c.(919-921)CGC>CAC	46	46			pancreas(1)	1	Broad	hypothetical protein LOC256329			556891		0.692	ENSG00000185522	1601	g.chr11:556891C>T										13.278612	KEEP	5	2	-1	9	7	5	2	-1	13.917518	9	7	0.294118	1	0	0	0	0	1	0	0	0	--	--		0	T			uc001lpy.2_5'Flank|uc001lpz.2_5'Flank	197	GBM-27-1838-TP	p.R307H	C	GGAGGAAGCGCGGTGGTCCCG	NM_173573	NP_775844	556891	Q8IXW0	CK035_HUMAN	0		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	8	983	-	T	T		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	Missense_Mutation	307						
C11orf35			GRCh37	11	556905	556905	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000329451.3:c.906G>A	p.Pro302=	p.P302=	ENST00000329451	NM_173573.2	302	ccG/ccA	0																																																																																																																																																																																																																																												
C11orf63	0	broad.mit.edu	GRCh37	11	122756720	122756720	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-5207-01	TCGA-28-5207-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000227349.2:c.163A>G	p.Met55Val	p.M55V	ENST00000227349	NM_024806.3	55	Atg/Gtg	0			1			G	M/V	uc001pym.2	protein_coding	YES	CCDS8438.1			163/2337									ovary(3)	3	c.(163-165)ATG>GTG			hmmpanther:PTHR14726	hypothetical protein LOC79864 isoform 1				ENSP00000227349		9-Feb									COSM2157332,COSM3397492	9-Feb	.		ENST00000227349	Transcript						ENSG00000109944	g.chr11:122756720A>G	26288			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=CK063_HUMAN&rb=1&re=210&var=M55V	NA	getma.org/?cm=var&var=hg19,11,122756720,A,G&fts=all	M55V	--	--	1																																		C11orf63_uc001pyl.1_Missense_Mutation_p.M55V	1,1	1		benign(0.003)	p.M55V	NM_024806	NP_079082		deleterious(0.04)	1,1	CK063_HUMAN	C11orf63	HGNC	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)			2	460	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	UPI00001FA5AB	55					SNV	C11orf63,missense_variant,p.Met55Val,ENST00000227349,NM_024806.3;C11orf63,missense_variant,p.Met55Val,ENST00000531316,;C11orf63,missense_variant,p.Met55Val,ENST00000307257,NM_199124.2;	uc001pym.2	c.163A>G	460/2910	4	4			c.163A>G						11	SNP	c.(163-165)ATG>GTG	17	17			ovary(3)	3	Broad	hypothetical protein LOC79864 isoform 1			122756720		0.488	ENSG00000109944	1617	g.chr11:122756720A>G										217.011498	KEEP	27	39	-1	45	71	27	39	-1	220.063043	45	71	0.358382	1	0	0	0	0	1	0	0	0	--	--		0	G			C11orf63_uc001pyl.1_Missense_Mutation_p.M55V	216	GBM-28-5207-TP	p.M55V	A	GCAAGAGATTATGTGCCATTC	NM_024806	NP_079082	122756720	Q6NUN7	CK063_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	2	460	+	G	G		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	Missense_Mutation	55						
C11orf63	0	broad.mit.edu	GRCh37	11	122775064	122775064	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-4210-01	TCGA-32-4210-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000227349.2:c.776A>G	p.Asn259Ser	p.N259S	ENST00000227349	NM_024806.3	259	aAc/aGc	0			1			G	N/S	uc001pym.2	protein_coding	YES	CCDS8438.1			776/2337									ovary(3)	3	c.(775-777)AAC>AGC			hmmpanther:PTHR14726	hypothetical protein LOC79864 isoform 1				ENSP00000227349		9-Mar									COSM3397493,COSM3397494	9-Mar	.		ENST00000227349	Transcript						ENSG00000109944	g.chr11:122775064A>G	26288			MODERATE		2.14	medium	getma.org/?cm=msa&ty=f&p=CK063_HUMAN&rb=211&re=776&var=N259S	NA	getma.org/?cm=var&var=hg19,11,122775064,A,G&fts=all	N259S	--	--	1																																		C11orf63_uc001pyl.1_Missense_Mutation_p.N259S	1,1	1		probably_damaging(0.999)	p.N259S	NM_024806	NP_079082		deleterious(0)	1,1	CK063_HUMAN	C11orf63	HGNC	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)			3	1073	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	UPI00001FA5AB	259					SNV	C11orf63,missense_variant,p.Asn259Ser,ENST00000227349,NM_024806.3;C11orf63,missense_variant,p.Asn259Ser,ENST00000531316,;C11orf63,missense_variant,p.Asn259Ser,ENST00000307257,NM_199124.2;	uc001pym.2	c.776A>G	1073/2910	3	3			c.776A>G						11	SNP	c.(775-777)AAC>AGC	10	10			ovary(3)	3	Broad	hypothetical protein LOC79864 isoform 1			122775064		0.463	ENSG00000109944	1617	g.chr11:122775064A>G										504.507782	KEEP	85	83	-1	157	193	85	83	-1	517.998913	157	193	0.318083	1	0	0	0	0	1	0	0	0	--	--		0	G			C11orf63_uc001pyl.1_Missense_Mutation_p.N259S	245	GBM-32-4210-TP	p.N259S	A	GTGGAAAAAAACAAGCTCACT	NM_024806	NP_079082	122775064	Q6NUN7	CK063_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	3	1073	+	G	G		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	Missense_Mutation	259						
C11orf65	160140	broad.mit.edu	GRCh37	11	108302504	108302504	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01	TCGA-06-0939-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393084.1:c.143G>A	p.Arg48His	p.R48H	ENST00000393084	NM_152587.3	48	cGt/cAt	0			1			T	R/H	uc001pkh.2	protein_coding	YES	CCDS8340.1			143/942									ovary(1)	1	c.(142-144)CGT>CAT				hypothetical protein LOC160140				ENSP00000376799		9-Mar	2.47E-05					1.50E-05		0.000124	rs775040844,COSM2152422	9-Mar	.		ENST00000393084	Transcript						ENSG00000166323	g.chr11:108302504C>T	28519			MODERATE		1.43	low	getma.org/?cm=msa&ty=f&p=CK065_HUMAN&rb=34&re=310&var=R48H	NA	getma.org/?cm=var&var=hg19,11,108302504,C,T&fts=all	R48H	--	--	1																																		C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_RNA	0,1	1		benign(0.009)	p.R48H	NM_152587	NP_689800		tolerated(0.33)	0,1	CK065_HUMAN	C11orf65	HGNC	Q8NCR3	CK065_HUMAN		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)			3	213	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	UPI000006DEE6	48					SNV	C11orf65,missense_variant,p.Arg48His,ENST00000393084,NM_152587.3;C11orf65,missense_variant,p.Arg48His,ENST00000529391,;C11orf65,missense_variant,p.Arg48His,ENST00000533583,;C11orf65,intron_variant,,ENST00000525729,;C11orf65,missense_variant,p.Arg48His,ENST00000527531,;	uc001pkh.2	c.143G>A	213/1033	1	1			c.143G>A						11	SNP	c.(142-144)CGT>CAT	9	9			ovary(1)	1	Broad	hypothetical protein LOC160140			108302504		0.303	ENSG00000166323	1618	g.chr11:108302504C>T						1			1	78.484853	KEEP	20	20	-1	65	88	20	20	-1	90.888154	65	88	0.21118	1	0	0	0	0	1	0	0	0	--	--		0	T			C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_RNA	78	GBM-06-0939-TP	p.R48H	C	CACTATCTGACGTGGTTCTCC	NM_152587	NP_689800	108302504	Q8NCR3	CK065_HUMAN	0		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)	3	213	-	T	T		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	Missense_Mutation	48						
C11orf65	160140		GRCh37	11	108302505	108302505	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2510-01	TCGA-28-2510-01																				ENST00000393084.1:c.142C>T	p.Arg48Cys	p.R48C	ENST00000393084	NM_152587.3	48	Cgt/Tgt	0																																																																																																																																																																																																																																												
C11orf82	0	broad.mit.edu	GRCh37	11	82643154	82643154	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A			TCGA-14-1450-01	TCGA-14-1450-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329143.3:c.-130T>A		*44*	ENST00000329143				0			1			A		uc001ozt.2	protein_coding					-/2094									ovary(2)	2	c.(772-774)TTT>TTA				nitric oxide-inducible gene protein				ENSP00000329930		2-Feb									COSM3398172	2-Feb	.		ENST00000329143	Transcript			apoptosis|cell cycle arrest	cytoplasm|nucleus		ENSG00000165490	g.chr11:82643154T>A	26351			MODIFIER		1.905	medium	getma.org/?cm=msa&ty=f&p=NOXIN_HUMAN&rb=131&re=996&var=F258L	NA	getma.org/?cm=var&var=hg19,11,82643154,T,A&fts=all	F258L	--	--	1																																		C11orf82_uc010rsr.1_5'UTR|C11orf82_uc010rss.1_5'UTR|C11orf82_uc009yvd.2_Intron	1				p.F258L	NM_145018	NP_659455			1		C11orf82	HGNC	Q8IXT1	NOXIN_HUMAN			B4DMA1_HUMAN		6	1018	+			UPI00017A75E5	258					SNV	C11orf82,missense_variant,p.Phe258Leu,ENST00000533655,NM_145018.3;C11orf82,missense_variant,p.Phe258Leu,ENST00000430323,;C11orf82,3_prime_UTR_variant,,ENST00000528759,;C11orf82,5_prime_UTR_variant,,ENST00000329143,;C11orf82,3_prime_UTR_variant,,ENST00000525388,;C11orf82,intron_variant,,ENST00000525361,;PRCP,intron_variant,,ENST00000534396,;C11orf82,downstream_gene_variant,,ENST00000532277,;C11orf82,downstream_gene_variant,,ENST00000532764,;C11orf82,downstream_gene_variant,,ENST00000524921,;C11orf82,downstream_gene_variant,,ENST00000528262,;C11orf82,downstream_gene_variant,,ENST00000532589,;C11orf82,downstream_gene_variant,,ENST00000533750,;C11orf82,downstream_gene_variant,,ENST00000528189,;	uc001ozt.2	c.774T>A	544/3087	2	2			c.774T>A						11	SNP	c.(772-774)TTT>TTA	28	28			ovary(2)	2	Broad	nitric oxide-inducible gene protein			82643154		0.413	ENSG00000165490	1628	g.chr11:82643154T>A	apoptosis|cell cycle arrest	cytoplasm|nucleus								67.694226	KEEP	18	15	-1	22	38	18	15	-1	69.565548	22	38	0.3375	1	0	0	0	0	1	0	0	0	--	--		0	A			C11orf82_uc010rsr.1_5'UTR|C11orf82_uc010rss.1_5'UTR|C11orf82_uc009yvd.2_Intron	145	GBM-14-1450-TP	p.F258L	T	ATGATGATTTTTCAGCTTCAG	NM_145018	NP_659455	82643154	Q8IXT1	NOXIN_HUMAN	0			6	1018	+	A	A			Missense_Mutation	258						
C11orf82	0	broad.mit.edu	GRCh37	11	82639902	82639905	+	intron_variant	Intron	DEL	CAAA	CAAA	-			TCGA-32-2494-01	TCGA-32-2494-01	CAAA	CAAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329143.3:c.-510-2868_-510-2865delCAAA		*170*	ENST00000329143				0			1			-		uc001ozt.2	protein_coding					-/2094									ovary(2)	2	c.(196-201)TCAAACfs				nitric oxide-inducible gene protein				ENSP00000329930													.		ENST00000329143	Transcript			apoptosis|cell cycle arrest	cytoplasm|nucleus		ENSG00000165490	g.chr11:82639902_82639905delCAAA	26351	4		MODIFIER	1-Jan							--	--	1																																		C11orf82_uc010rsr.1_5'UTR|C11orf82_uc010rss.1_Intron|C11orf82_uc009yvd.2_Frame_Shift_Del_p.S66fs					p.S66fs	NM_145018	NP_659455					C11orf82	HGNC	Q8IXT1	NOXIN_HUMAN			B4DMA1_HUMAN		4	441_444	+			UPI00017A75E5	66_67					deletion	C11orf82,frameshift_variant,p.Lys68CysfsTer11,ENST00000533655,NM_145018.3;C11orf82,frameshift_variant,p.Lys68CysfsTer11,ENST00000430323,;C11orf82,frameshift_variant,p.Lys68CysfsTer11,ENST00000525361,;C11orf82,frameshift_variant,p.Lys68CysfsTer11,ENST00000525388,;C11orf82,frameshift_variant,p.Lys68CysfsTer?,ENST00000532277,;C11orf82,frameshift_variant,p.Lys129CysfsTer11,ENST00000532764,;C11orf82,frameshift_variant,p.Lys68CysfsTer11,ENST00000524921,;C11orf82,frameshift_variant,p.Lys68CysfsTer11,ENST00000528262,;C11orf82,frameshift_variant,p.Lys68CysfsTer?,ENST00000532589,;C11orf82,intron_variant,,ENST00000528759,;C11orf82,intron_variant,,ENST00000329143,;PRCP,intron_variant,,ENST00000534396,;C11orf82,non_coding_transcript_exon_variant,,ENST00000533750,;C11orf82,non_coding_transcript_exon_variant,,ENST00000528189,;	uc001ozt.2	c.197_200delCAAA	-/3087	5	5			c.197_200delCAAA						11	DEL	c.(196-201)TCAAACfs	15	15			ovary(2)	2	Broad	nitric oxide-inducible gene protein			82639905		0.343	ENSG00000165490	1628	g.chr11:82639902_82639905delCAAA	apoptosis|cell cycle arrest	cytoplasm|nucleus																					0.28	1	1	0	1	0	0	0	0	0	--	--		0	-			C11orf82_uc010rsr.1_5'UTR|C11orf82_uc010rss.1_Intron|C11orf82_uc009yvd.2_Frame_Shift_Del_p.S66fs	236	GBM-32-2494-TP	p.S66fs	CAAA	GTTGCAGAATCAAACAAATTGTTT	NM_145018	NP_659455	82639902	Q8IXT1	NOXIN_HUMAN	0			4	441_444	+	-	-			Frame_Shift_Del	66_67						
C11orf84	0	broad.mit.edu	GRCh37	11	63585590	63585590	+	synonymous_variant	Silent	SNP	G	G	A	rs114963373	by1000genomes	TCGA-14-2554-01	TCGA-14-2554-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294244.4:c.441G>A	p.Pro147=	p.P147=	ENST00000294244	NM_138471.1	147	ccG/ccA	0		A:0	1	A:0		A	P	uc001nxt.2	protein_coding	YES	CCDS31594.1			441/1146										0	c.(439-441)CCG>CCA				hypothetical protein LOC144097		A:0.003		ENSP00000294244	A:0	6-Feb	0.000231		0.000864	0.00173		4.50E-05			rs114963373,COSM2162673	6-Feb	common_variant		ENST00000294244	Transcript		A:0.0006				ENSG00000168005	g.chr11:63585590G>A	25115			LOW								--	--	1																																			0,1	1			p.P147P	NM_138471	NP_612480	A:0		0,1	CK084_HUMAN	C11orf84	HGNC	Q9BUA3	CK084_HUMAN					2	677	+			UPI00001BDB3C	147			Pro-rich.		SNV	C11orf84,synonymous_variant,p.=,ENST00000294244,NM_138471.1;C11orf84,upstream_gene_variant,,ENST00000535820,;C11orf84,upstream_gene_variant,,ENST00000540893,;	uc001nxt.2	c.441G>A	740/2024	2	2			c.441G>A						11	SNP	c.(439-441)CCG>CCA	18	18				0	Broad	hypothetical protein LOC144097			63585590		0.587	ENSG00000168005	1630	g.chr11:63585590G>A										74.658684	KEEP	17	19	-1	52	59	17	19	-1	80.849735	52	59	0.260504	1	0	0	0	0	0	0	1	0	--	--		0	A				150	GBM-14-2554-TP	p.P147P	G	CTGAGCAGCCGTCCCCACCCA	NM_138471	NP_612480	63585590	Q9BUA3	CK084_HUMAN	0			2	677	+	A	A			Silent	147			Pro-rich.			
FREY1	0	broad.mit.edu	GRCh37	11	45928455	45928455	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-4211-01	TCGA-32-4211-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449465.1:c.140T>C	p.Leu47Pro	p.L47P	ENST00000449465	NM_001080446.2	47	cTg/cCg	0			1			G	L/P	uc001nbs.3	protein_coding	YES	CCDS44577.1			140/297										0	c.(139-141)CTG>CCG				hypothetical protein LOC143678				ENSP00000401498		3-Feb									COSM3747876	3-Feb	.		ENST00000449465	Transcript				extracellular region		ENSG00000234776	g.chr11:45928455A>G	37213			MODERATE								--	--	1																																			1	1		probably_damaging(0.998)	p.L47P	NM_001080446	NP_001073915		deleterious(0)	1	CK094_HUMAN	C11orf94	HGNC	C9JXX5	CK094_HUMAN					2	177	-			UPI000015FFBA	47					SNV	C11orf94,missense_variant,p.Leu47Pro,ENST00000449465,NM_001080446.2;MAPK8IP1,downstream_gene_variant,,ENST00000395629,;MAPK8IP1,downstream_gene_variant,,ENST00000241014,NM_005456.3;PEX16,downstream_gene_variant,,ENST00000532681,;PEX16,downstream_gene_variant,,ENST00000241041,NM_057174.2,NM_004813.2;PEX16,downstream_gene_variant,,ENST00000378750,;RP11-618K13.2,upstream_gene_variant,,ENST00000533218,;PEX16,downstream_gene_variant,,ENST00000523721,;MAPK8IP1,downstream_gene_variant,,ENST00000497090,;	uc001nbs.3	c.140T>C	177/369	3	3			c.140T>C						11	SNP	c.(139-141)CTG>CCG	57	57				0	Broad	hypothetical protein LOC143678			45928455		0.617	ENSG00000234776	1636	g.chr11:45928455A>G		extracellular region								-34.512848	KEEP	3	0	-1	88	96	3	0	-1	6.579857	88	96	0.018987	1	0	0	0	0	1	0	0	0	--	--		0	G				246	GBM-32-4211-TP	p.L47P	A	CGAGAGTTCCAGGGGGGCGGA	NM_001080446	NP_001073915	45928455	C9JXX5	CK094_HUMAN	0			2	177	-	G	G			Missense_Mutation	47						
C12orf39	0	broad.mit.edu	GRCh37	12	21681996	21681996	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2623-01	TCGA-19-2623-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256969.2:c.270G>A	p.Ala90=	p.A90=	ENST00000256969	NM_030572.2	90	gcG/gcA	0		A:0	1	A:0.0014		A	A	uc001rfa.1	protein_coding	YES	CCDS31757.1			270/351										0	c.(268-270)GCG>GCA			Pfam_domain:PF15171	spexin precursor		A:0		ENSP00000256969	A:0	6-May	3.29E-05		0.000259					6.06E-05	rs547568893,COSM1562202	6-May	.		ENST00000256969	Transcript		A:0.0002		extracellular region|nucleus|transport vesicle		ENSG00000134548	g.chr12:21681996G>A	28139			LOW								--	--	1																																		C12orf39_uc009ziv.1_RNA|C12orf39_uc009ziw.1_RNA	0,1	1			p.A90A	NM_030572	NP_085049	A:0		0,1	SPXN_HUMAN	C12orf39	HGNC	Q9BT56	SPXN_HUMAN					5	421	+			UPI0000039EF8	90					SNV	C12orf39,synonymous_variant,p.=,ENST00000256969,NM_030572.2;C12orf39,non_coding_transcript_exon_variant,,ENST00000543800,;C12orf39,non_coding_transcript_exon_variant,,ENST00000537527,;C12orf39,non_coding_transcript_exon_variant,,ENST00000544637,;C12orf39,3_prime_UTR_variant,,ENST00000546199,;C12orf39,non_coding_transcript_exon_variant,,ENST00000535139,;C12orf39,non_coding_transcript_exon_variant,,ENST00000535033,;	uc001rfa.1	c.270G>A	436/1845	2	2			c.270G>A						12	SNP	c.(268-270)GCG>GCA	34	34				0	Broad	spexin precursor			21681996		0.438	ENSG00000134548	1647	g.chr12:21681996G>A		extracellular region|nucleus|transport vesicle								412.464364	KEEP	73	65	-1	36	43	73	65	-1	416.555915	36	43	0.654639	1	0	0	0	0	0	0	1	0	--	--		0	A			C12orf39_uc009ziv.1_RNA|C12orf39_uc009ziw.1_RNA	163	GBM-19-2623-TP	p.A90A	G	TCTTACTGGCGTCCCTTCAGA	NM_030572	NP_085049	21681996	Q9BT56	SPXN_HUMAN	0			5	421	+	A	A			Silent	90						
C12orf4	57102	broad.mit.edu	GRCh37	12	4643363	4643363	+	stop_gained	Nonsense_Mutation	SNP	A	A	C			TCGA-06-0875-01	TCGA-06-0875-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261250.3:c.284T>G	p.Leu95Ter	p.L95*	ENST00000261250	NM_020374.2	95	tTa/tGa	0			1			C	L/*	uc001qms.2	protein_coding	YES	CCDS8528.1			284/1659										0	c.(283-285)TTA>TGA			Pfam_domain:PF10154,hmmpanther:PTHR16525,hmmpanther:PTHR16525:SF0	hypothetical protein LOC57102				ENSP00000261250		14-Mar									COSM2152003	14-Mar	.		ENST00000261250	Transcript						ENSG00000047621	g.chr12:4643363A>C	1184			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,12,4643363,A,C&fts=all	L95*	--	--	1																																		C12orf4_uc001qmt.2_Nonsense_Mutation_p.L95*	1	1			p.L95*	NM_020374	NP_065107			1	CL004_HUMAN	C12orf4	HGNC	Q9NQ89	CL004_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)	F5H744_HUMAN,F5GXX6_HUMAN		3	372	-			UPI0000038C60	95					SNV	C12orf4,stop_gained,p.Leu95Ter,ENST00000261250,NM_020374.2;C12orf4,stop_gained,p.Leu95Ter,ENST00000545746,;C12orf4,stop_gained,p.Leu48Ter,ENST00000542080,;C12orf4,5_prime_UTR_variant,,ENST00000541014,;RAD51AP1,upstream_gene_variant,,ENST00000228843,NM_001130862.1;RAD51AP1,upstream_gene_variant,,ENST00000321524,;RAD51AP1,upstream_gene_variant,,ENST00000352618,NM_006479.4;RAD51AP1,upstream_gene_variant,,ENST00000543041,;RAD51AP1,upstream_gene_variant,,ENST00000544927,;C12orf4,5_prime_UTR_variant,,ENST00000544697,;C12orf4,non_coding_transcript_exon_variant,,ENST00000535030,;RAD51AP1,upstream_gene_variant,,ENST00000442992,;RAD51AP1,upstream_gene_variant,,ENST00000535558,;RAD51AP1,upstream_gene_variant,,ENST00000398012,;RAD51AP1,upstream_gene_variant,,ENST00000536886,;RAD51AP1,upstream_gene_variant,,ENST00000536346,;RAD51AP1,upstream_gene_variant,,ENST00000538817,;C12orf4,upstream_gene_variant,,ENST00000535887,;RAD51AP1,upstream_gene_variant,,ENST00000544110,;	uc001qms.2	c.284T>G	372/3826	5	3			c.284T>G						12	SNP	c.(283-285)TTA>TGA	8	8				0	Broad	hypothetical protein LOC57102			4643363		0.393	ENSG00000047621	1648	g.chr12:4643363A>C										225.037651	KEEP	36	37	-1	50	36	36	37	-1	225.58629	50	36	0.433566	1	0	0	0	0	0	1	0	0	--	--		0	C			C12orf4_uc001qmt.2_Nonsense_Mutation_p.L95*	71	GBM-06-0875-TP	p.L95*	A	CAGCTGATGTAAATCTACTTC	NM_020374	NP_065107	4643363	Q9NQ89	CL004_HUMAN	0	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)	3	372	-	C	C			Nonsense_Mutation	95						
C12orf40	283461	broad.mit.edu	GRCh37	12	40040162	40040162	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-5859-01	TCGA-06-5859-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324616.5:c.234G>C	p.Met78Ile	p.M78I	ENST00000324616	NM_001031748.2	78	atG/atC	0			1			C	M/I	uc001rmc.2	protein_coding	YES	CCDS41770.1			234/1959									ovary(6)	6	c.(232-234)ATG>ATC				hypothetical protein LOC283461				ENSP00000317671		13-Apr									COSM2153389,COSM3398693	13-Apr	.		ENST00000324616	Transcript						ENSG00000180116	g.chr12:40040162G>C	26846			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=CL040_HUMAN&rb=1&re=114&var=M78I	NA	getma.org/?cm=var&var=hg19,12,40040162,G,C&fts=all	M78I	--	--	1																																		C12orf40_uc009zjv.1_RNA	1,1	1		probably_damaging(0.997)	p.M78I	NM_001031748	NP_001026918		deleterious(0.03)	1,1	CL040_HUMAN	C12orf40	HGNC	Q86WS4	CL040_HUMAN					4	401	+			UPI000069A925	78					SNV	C12orf40,start_lost,p.Met1?,ENST00000398716,;C12orf40,missense_variant,p.Met78Ile,ENST00000324616,NM_001031748.2;C12orf40,missense_variant,p.Met78Ile,ENST00000405531,;C12orf40,start_lost,p.Met1?,ENST00000468200,;	uc001rmc.2	c.234G>C	388/2776	3	3			c.234G>C						12	SNP	c.(232-234)ATG>ATC	64	64			ovary(6)	6	Broad	hypothetical protein LOC283461			40040162		0.274	ENSG00000180116	1649	g.chr12:40040162G>C										79.838348	KEEP	15	8	-1	18	19	15	8	-1	80.578834	18	19	0.37931	1	0	0	0	0	1	0	0	0	--	--		0	C			C12orf40_uc009zjv.1_RNA	103	GBM-06-5859-TP	p.M78I	G	ATGTGAACATGAATAGAGACA	NM_001031748	NP_001026918	40040162	Q86WS4	CL040_HUMAN	0			4	401	+	C	C			Missense_Mutation	78						
C12orf40	283461	broad.mit.edu	GRCh37	12	40114778	40114778	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-6391-01	TCGA-06-6391-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324616.5:c.1684A>G	p.Asn562Asp	p.N562D	ENST00000324616	NM_001031748.2	562	Aat/Gat	0			1			G	N/D	uc001rmc.2	protein_coding	YES	CCDS41770.1			1684/1959									ovary(6)	6	c.(1684-1686)AAT>GAT			Pfam_domain:PF15089	hypothetical protein LOC283461				ENSP00000317671		13/13									COSM159471	13/13	.		ENST00000324616	Transcript						ENSG00000180116	g.chr12:40114778A>G	26846			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=CL040_HUMAN&rb=116&re=650&var=N562D	NA	getma.org/?cm=var&var=hg19,12,40114778,A,G&fts=all	N562D	--	--	1																																		C12orf40_uc009zjv.1_Intron	1	1		benign(0.066)	p.N562D	NM_001031748	NP_001026918		tolerated(0.07)	1	CL040_HUMAN	C12orf40	HGNC	Q86WS4	CL040_HUMAN					13	1851	+			UPI000069A925	562					SNV	C12orf40,missense_variant,p.Asn562Asp,ENST00000324616,NM_001031748.2;C12orf40,intron_variant,,ENST00000468200,;	uc001rmc.2	c.1684A>G	1838/2776	3	3			c.1684A>G						12	SNP	c.(1684-1686)AAT>GAT	4	4			ovary(6)	6	Broad	hypothetical protein LOC283461			40114778		0.393	ENSG00000180116	1649	g.chr12:40114778A>G										27.208753	KEEP	8	6	-1	43	48	8	6	-1	40.285136	43	48	0.131313	1	0	0	0	0	1	0	0	0	--	--		0	G			C12orf40_uc009zjv.1_Intron	107	GBM-06-6391-TP	p.N562D	A	AGTGAAAAATAATACAGATCA	NM_001031748	NP_001026918	40114778	Q86WS4	CL040_HUMAN	0			13	1851	+	G	G			Missense_Mutation	562						
C12orf40	283461	broad.mit.edu	GRCh37	12	40114932	40114932	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-6391-01	TCGA-06-6391-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324616.5:c.1838A>G	p.Gln613Arg	p.Q613R	ENST00000324616	NM_001031748.2	613	cAg/cGg	0			1			G	Q/R	uc001rmc.2	protein_coding	YES	CCDS41770.1			1838/1959									ovary(6)	6	c.(1837-1839)CAG>CGG			Pfam_domain:PF15089	hypothetical protein LOC283461				ENSP00000317671		13/13	8.27E-06						0.00111		rs767767359	13/13	.		ENST00000324616	Transcript						ENSG00000180116	g.chr12:40114932A>G	26846			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=CL040_HUMAN&rb=116&re=650&var=Q613R	NA	getma.org/?cm=var&var=hg19,12,40114932,A,G&fts=all	Q613R	--	--	1																																		C12orf40_uc009zjv.1_Intron		1		probably_damaging(0.999)	p.Q613R	NM_001031748	NP_001026918		deleterious(0)		CL040_HUMAN	C12orf40	HGNC	Q86WS4	CL040_HUMAN					13	2005	+			UPI000069A925	613					SNV	C12orf40,missense_variant,p.Gln613Arg,ENST00000324616,NM_001031748.2;C12orf40,intron_variant,,ENST00000468200,;	uc001rmc.2	c.1838A>G	1992/2776	3	3			c.1838A>G						12	SNP	c.(1837-1839)CAG>CGG	63	63			ovary(6)	6	Broad	hypothetical protein LOC283461			40114932		0.408	ENSG00000180116	1649	g.chr12:40114932A>G										14.904022	KEEP	8	7	-1	44	72	8	7	-1	32.181004	44	72	0.117647	1	0	0	0	0	1	0	0	0	--	--		0	G			C12orf40_uc009zjv.1_Intron	107	GBM-06-6391-TP	p.Q613R	A	GTTGCCATACAGTGTGATCTA	NM_001031748	NP_001026918	40114932	Q86WS4	CL040_HUMAN	0			13	2005	+	G	G			Missense_Mutation	613						
C12orf40	283461	broad.mit.edu	GRCh37	12	40114983	40114983	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-6391-01	TCGA-06-6391-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324616.5:c.1889A>C	p.Asn630Thr	p.N630T	ENST00000324616	NM_001031748.2	630	aAc/aCc	0			1			C	N/T	uc001rmc.2	protein_coding	YES	CCDS41770.1			1889/1959									ovary(6)	6	c.(1888-1890)AAC>ACC			Pfam_domain:PF15089	hypothetical protein LOC283461				ENSP00000317671		13/13										13/13	.		ENST00000324616	Transcript						ENSG00000180116	g.chr12:40114983A>C	26846			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=CL040_HUMAN&rb=116&re=650&var=N630T	NA	getma.org/?cm=var&var=hg19,12,40114983,A,C&fts=all	N630T	--	--	1																																		C12orf40_uc009zjv.1_Intron		1		benign(0.311)	p.N630T	NM_001031748	NP_001026918		tolerated(0.14)		CL040_HUMAN	C12orf40	HGNC	Q86WS4	CL040_HUMAN					13	2056	+			UPI000069A925	630					SNV	C12orf40,missense_variant,p.Asn630Thr,ENST00000324616,NM_001031748.2;C12orf40,intron_variant,,ENST00000468200,;	uc001rmc.2	c.1889A>C	2043/2776	3	3			c.1889A>C						12	SNP	c.(1888-1890)AAC>ACC	13	13			ovary(6)	6	Broad	hypothetical protein LOC283461			40114983		0.363	ENSG00000180116	1649	g.chr12:40114983A>C										49.927744	KEEP	15	9	-1	45	62	15	9	-1	61.471538	45	62	0.173913	1	0	0	0	0	1	0	0	0	--	--		0	C			C12orf40_uc009zjv.1_Intron	107	GBM-06-6391-TP	p.N630T	A	TCTCTTTGCAACCTTGAAAGG	NM_001031748	NP_001026918	40114983	Q86WS4	CL040_HUMAN	0			13	2056	+	C	C			Missense_Mutation	630						
C12orf42	0	broad.mit.edu	GRCh37	12	103695960	103695960	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-81-5910-01	TCGA-81-5910-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378113.2:c.1009delC	p.Arg337AlafsTer19	p.R337Afs*19	ENST00000378113	NM_001278419.1	337	Cgc/gc	0	-:0.0037		1			-	R/X	uc001tjt.2	protein_coding	YES	CCDS44963.1			1009/1083									ovary(1)|central_nervous_system(1)	2	c.(1009-1011)CGCfs			Pfam_domain:PF15380	hypothetical protein LOC374470			-:0.0024	ENSP00000367353		6-Jun	3.31E-05	0.000109						0.0002	rs774879131,COSM1721555	6-Jun	.		ENST00000378113	Transcript						ENSG00000179088	g.chr12:103695960delG	24729			HIGH								--	--	1																																		C12orf42_uc001tjs.2_Intron|C12orf42_uc009zuf.1_Frame_Shift_Del_p.R337fs|C12orf42_uc001tju.2_Frame_Shift_Del_p.R242fs	0,1	1			p.R337fs	NM_198521	NP_940923			0,1	CL042_HUMAN	C12orf42	HGNC	Q96LP6	CL042_HUMAN			F8W1Y6_HUMAN,F8VV63_HUMAN		6	1097	-			UPI00001D7906	337					deletion	C12orf42,frameshift_variant,p.Arg270AlafsTer19,ENST00000548048,;C12orf42,frameshift_variant,p.Arg337AlafsTer19,ENST00000378113,NM_001278419.1,NM_001099336.2;C12orf42,frameshift_variant,p.Arg337AlafsTer19,ENST00000548883,NM_198521.3;C12orf42,intron_variant,,ENST00000315192,;C12orf42,downstream_gene_variant,,ENST00000552578,;C12orf42,intron_variant,,ENST00000546526,;C12orf42,intron_variant,,ENST00000552977,;C12orf42,intron_variant,,ENST00000550650,;C12orf42,downstream_gene_variant,,ENST00000548789,;C12orf42,3_prime_UTR_variant,,ENST00000551134,NM_001278420.1;C12orf42,intron_variant,,ENST00000547347,;	uc001tjt.2	c.1009delC	1235/1462	5	5			c.1009delC						12	DEL	c.(1009-1011)CGCfs	11	11			ovary(1)|central_nervous_system(1)	2	Broad	hypothetical protein LOC374470			103695960		0.587	ENSG00000179088	1651	g.chr12:103695960delG																							0.05	1	1	0	1	0	0	0	0	0	--	--		0	-			C12orf42_uc001tjs.2_Intron|C12orf42_uc009zuf.1_Frame_Shift_Del_p.R337fs|C12orf42_uc001tju.2_Frame_Shift_Del_p.R242fs	289	GBM-81-5910-TP	p.R337fs	G	CGGGTTGGGCGGGGGGGTGCT	NM_198521	NP_940923	103695960	Q96LP6	CL042_HUMAN	0			6	1097	-	-	-			Frame_Shift_Del	337						
C12orf43	0	broad.mit.edu	GRCh37	12	121444130	121444130	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01	TCGA-19-5955-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288757.3:c.355G>A	p.Asp119Asn	p.D119N	ENST00000288757	NM_022895.1	119	Gat/Aat	0			1			T	D/N	uc001tzh.1	protein_coding	YES	CCDS9210.1			355/789										0	c.(355-357)GAT>AAT			hmmpanther:PTHR14482,hmmpanther:PTHR14482:SF0	hypothetical protein LOC64897				ENSP00000288757		6-Apr									COSM3398443	6-Apr	.		ENST00000288757	Transcript						ENSG00000157895	g.chr12:121444130C>T	25719			MODERATE		2.135	medium	getma.org/?cm=msa&ty=f&p=CL043_HUMAN&rb=1&re=179&var=D119N	NA	getma.org/?cm=var&var=hg19,12,121444130,C,T&fts=all	D119N	--	--	1																																		C12orf43_uc009zxa.1_Missense_Mutation_p.D150N|C12orf43_uc010szo.1_Missense_Mutation_p.D77N|C12orf43_uc010szp.1_Missense_Mutation_p.D119N|C12orf43_uc001tzi.1_Missense_Mutation_p.D119N	1	1		possibly_damaging(0.848)	p.D119N	NM_022895	NP_075046		deleterious(0.01)	1	CL043_HUMAN	C12orf43	HGNC	Q96C57	CL043_HUMAN			E7ENF1_HUMAN		4	378	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		UPI000006ED81	119					SNV	C12orf43,missense_variant,p.Asp89Asn,ENST00000445832,NM_001286197.1,NM_001286191.1,NM_001286192.1;C12orf43,missense_variant,p.Asp119Asn,ENST00000288757,NM_022895.1;C12orf43,missense_variant,p.Asp77Asn,ENST00000366211,NM_001286198.1;C12orf43,missense_variant,p.Asp120Asn,ENST00000537817,;C12orf43,missense_variant,p.Asp119Asn,ENST00000539736,NM_001286195.1;C12orf43,missense_variant,p.Asp72Asn,ENST00000546272,;C12orf43,missense_variant,p.Asp73Asn,ENST00000535367,;C12orf43,missense_variant,p.Asp56Asn,ENST00000538296,;C12orf43,intron_variant,,ENST00000536407,;HNF1A,downstream_gene_variant,,ENST00000257555,;HNF1A,downstream_gene_variant,,ENST00000541395,NM_000545.5;C12orf43,3_prime_UTR_variant,,ENST00000539088,;C12orf43,non_coding_transcript_exon_variant,,ENST00000502891,;C12orf43,non_coding_transcript_exon_variant,,ENST00000508193,;HNF1A,downstream_gene_variant,,ENST00000540108,;HNF1A,downstream_gene_variant,,ENST00000560968,;	uc001tzh.1	c.355G>A	378/1920	2	2			c.355G>A						12	SNP	c.(355-357)GAT>AAT	47	47				0	Broad	hypothetical protein LOC64897			121444130		0.284	ENSG00000157895	1652	g.chr12:121444130C>T										9.179397	KEEP	5	2	-1	18	37	5	2	-1	17.60969	18	37	0.118644	1	0	0	0	0	1	0	0	0	--	--		0	T			C12orf43_uc009zxa.1_Missense_Mutation_p.D150N|C12orf43_uc010szo.1_Missense_Mutation_p.D77N|C12orf43_uc010szp.1_Missense_Mutation_p.D119N|C12orf43_uc001tzi.1_Missense_Mutation_p.D119N	175	GBM-19-5955-TP	p.D119N	C	TCACCATCATCCTCCAAAGCG	NM_022895	NP_075046	121444130	Q96C57	CL043_HUMAN	0			4	378	-	T	T	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		Missense_Mutation	119						
C12orf45	0	broad.mit.edu	GRCh37	12	105380235	105380235	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01	TCGA-32-2491-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000552951.1:c.105C>G	p.Asp35Glu	p.D35E	ENST00000552951	NM_152318.2	35	gaC/gaG	0			1			G	D/E	uc001tlb.2	protein_coding	YES	CCDS41825.1			105/558										0	c.(103-105)GAC>GAG				hypothetical protein LOC121053				ENSP00000447057		4-Jan									COSM3398278	4-Jan	.		ENST00000552951	Transcript						ENSG00000151131	g.chr12:105380235C>G	28628			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CL045_HUMAN&rb=1&re=181&var=D35E	NA	getma.org/?cm=var&var=hg19,12,105380235,C,G&fts=all	D35E	--	--	1																																			1	1		benign(0.002)	p.D35E	NM_152318	NP_689531		tolerated(0.29)	1	CL045_HUMAN	C12orf45	HGNC	Q8N5I9	CL045_HUMAN			J3KN91_HUMAN		1	138	+			UPI000013DC37	35					SNV	C12orf45,missense_variant,p.Asp35Glu,ENST00000552951,NM_152318.2;C12orf45,missense_variant,p.Asp35Glu,ENST00000280749,;	uc001tlb.2	c.105C>G	148/1131	3	3			c.105C>G						12	SNP	c.(103-105)GAC>GAG	5	5				0	Broad	hypothetical protein LOC121053			105380235		0.706	ENSG00000151131	1654	g.chr12:105380235C>G										4.842468	KEEP	2	0	-1	6	8	2	0	-1	6.330757	6	8	0.153846	1	0	0	0	0	1	0	0	0	--	--		0	G				235	GBM-32-2491-TP	p.D35E	C	CGGGAAGCGACGGCCGCGGAG	NM_152318	NP_689531	105380235	Q8N5I9	CL045_HUMAN	0			1	138	+	G	G			Missense_Mutation	35						
C12orf50	0	broad.mit.edu	GRCh37	12	88388465	88388466	+	frameshift_variant	Frame_Shift_Del	DEL	TA	TA	-			TCGA-12-3649-01	TCGA-12-3649-01	TA	TA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298699.2:c.536_537delTA	p.Ile179LysfsTer11	p.I179Kfs*11	ENST00000298699	NM_152589.1	179	aTA/a	0			1			-	I/X	uc001tam.1	protein_coding	YES	CCDS9031.1			536-537/1245									skin(2)|ovary(1)	3	c.(535-537)ATAfs			hmmpanther:PTHR15725,hmmpanther:PTHR15725:SF1	hypothetical protein LOC160419				ENSP00000298699		13-Jul										13-Jul	.		ENST00000298699	Transcript						ENSG00000165805	g.chr12:88388465_88388466delTA	26665			HIGH								--	--	1																																		C12orf50_uc001tan.2_Frame_Shift_Del_p.I233fs		1			p.I179fs	NM_152589	NP_689802				CL050_HUMAN	C12orf50	HGNC	Q8NA57	CL050_HUMAN			F8VXH4_HUMAN		7	704_705	-			UPI0000071382	179					deletion	C12orf50,frameshift_variant,p.Ile179LysfsTer11,ENST00000298699,NM_152589.1;C12orf50,frameshift_variant,p.Ile179LysfsTer11,ENST00000550553,;C12orf50,downstream_gene_variant,,ENST00000551163,;C12orf50,non_coding_transcript_exon_variant,,ENST00000551944,;	uc001tam.1	c.536_537delTA	717-718/1718	5	5			c.536_537delTA						12	DEL	c.(535-537)ATAfs	7	7			skin(2)|ovary(1)	3	Broad	hypothetical protein LOC160419			88388466		0.347	ENSG00000165805	1658	g.chr12:88388465_88388466delTA																							0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			C12orf50_uc001tan.2_Frame_Shift_Del_p.I233fs	125	GBM-12-3649-TP	p.I179fs	TA	ATGATGTTTTTATTTCACCTTG	NM_152589	NP_689802	88388465	Q8NA57	CL050_HUMAN	0			7	704_705	-	-	-			Frame_Shift_Del	179						
C12orf50	160419		GRCh37	12	88391941	88391941	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000298699.2:c.160G>T	p.Glu54Ter	p.E54*	ENST00000298699	NM_152589.1	54	Gaa/Taa	0																																																																																																																																																																																																																																												
C12orf55	0	broad.mit.edu	GRCh37	12	97052014	97052014	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-1804-01	TCGA-06-1804-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000524981.4:c.5350C>A	p.Pro1784Thr	p.P1784T	ENST00000524981		1784	Cca/Aca	0			1			A	P/T	uc001tet.1	protein_coding	YES				5350/9291									skin(6)|ovary(1)	7	c.(625-627)CCA>ACA				hypothetical protein LOC374467				ENSP00000431759		38/68									COSM2152482	38/68	.		ENST00000524981	Transcript						ENSG00000188596	g.chr12:97052014C>A	26456			MODERATE		2.135	medium	getma.org/?cm=msa&ty=f&p=E9PJL5_HUMAN&rb=1780&re=1979&var=P1784T	NA	getma.org/?cm=var&var=hg19,12,97052014,C,A&fts=all	P1784T	--	--	1																																			1	1		probably_damaging(0.974)	p.P209T	NM_198520	NP_940922		deleterious(0)	1		C12orf55	HGNC	Q6ZTY8	CL063_HUMAN			R4GNI2_HUMAN,E9PJL5_HUMAN		5	703	+			UPI0001F77A4D	209					SNV	C12orf55,missense_variant,p.Pro1784Thr,ENST00000524981,;C12orf55,non_coding_transcript_exon_variant,,ENST00000342887,;	uc001tet.1	c.625C>A	5373/9766	1	1			c.625C>A						12	SNP	c.(625-627)CCA>ACA	56	56			skin(6)|ovary(1)	7	Broad	hypothetical protein LOC374467			97052014		0.388	ENSG00000188596	1669	g.chr12:97052014C>A										91.460732	KEEP	13	20	0.606060606	19	24	13	20	0.606060606	91.72496	19	24	0.432836	1	0	0	0	0	1	0	0	0	--	--		0	A				79	GBM-06-1804-TP	p.P209T	C	ACAAGTGACACCACTTCTGGT	NM_198520	NP_940922	97052014	Q6ZTY8	CL063_HUMAN	0			5	703	+	A	A			Missense_Mutation	209						
C12orf55	0	broad.mit.edu	GRCh37	12	97085019	97085019	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0781-01	TCGA-14-0781-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000524981.4:c.6195C>T	p.Asp2065=	p.D2065=	ENST00000524981		2065	gaC/gaT	0			1			T	D	uc001tet.1	protein_coding	YES				6195/9291									skin(6)|ovary(1)	7	c.(1468-1470)GAC>GAT				hypothetical protein LOC374467				ENSP00000431759		44/68									COSM2046791	44/68	.		ENST00000524981	Transcript						ENSG00000188596	g.chr12:97085019C>T	26456			LOW								--	--	1																																			1	1			p.D490D	NM_198520	NP_940922			1		C12orf55	HGNC	Q6ZTY8	CL063_HUMAN			R4GNI2_HUMAN,E9PJL5_HUMAN		11	1548	+			UPI0001F77A4D	490					SNV	C12orf55,synonymous_variant,p.=,ENST00000524981,;C12orf55,non_coding_transcript_exon_variant,,ENST00000342887,;	uc001tet.1	c.1470C>T	6218/9766	2	2			c.1470C>T						12	SNP	c.(1468-1470)GAC>GAT	21	21			skin(6)|ovary(1)	7	Broad	hypothetical protein LOC374467			97085019		0.358	ENSG00000188596	1669	g.chr12:97085019C>T										4.408686	KEEP	3	0	-1	7	13	3	0	-1	7.226816	7	13	0.136364	1	0	0	0	0	0	0	1	0	--	--		0	T				133	GBM-14-0781-TP	p.D490D	C	ACAGGGCTGACATTTGCTCTG	NM_198520	NP_940922	97085019	Q6ZTY8	CL063_HUMAN	0			11	1548	+	T	T			Silent	490						
C12orf55	0	broad.mit.edu	GRCh37	12	97073486	97073486	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000524981.4:c.5672G>A	p.Arg1891Gln	p.R1891Q	ENST00000524981		1891	cGa/cAa	0	A:0		1			A	R/Q	uc001tet.1	protein_coding	YES				5672/9291									skin(6)|ovary(1)	7	c.(946-948)CGA>CAA				hypothetical protein LOC374467			A:0.0001	ENSP00000431759		40/68	8.24E-06					1.50E-05			rs367592020,COSM3399204	40/68	.		ENST00000524981	Transcript						ENSG00000188596	g.chr12:97073486G>A	26456			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=E9PJL5_HUMAN&rb=1780&re=1979&var=R1891Q	NA	getma.org/?cm=var&var=hg19,12,97073486,G,A&fts=all	R1891Q	--	--	1																																			0,1	1		benign(0.014)	p.R316Q	NM_198520	NP_940922		tolerated(0.19)	0,1		C12orf55	HGNC	Q6ZTY8	CL063_HUMAN			R4GNI2_HUMAN,E9PJL5_HUMAN		7	1025	+			UPI0001F77A4D	316					SNV	C12orf55,missense_variant,p.Arg1891Gln,ENST00000524981,;C12orf55,non_coding_transcript_exon_variant,,ENST00000342887,;	uc001tet.1	c.947G>A	5695/9766	2	2			c.947G>A						12	SNP	c.(946-948)CGA>CAA	26	26			skin(6)|ovary(1)	7	Broad	hypothetical protein LOC374467			97073486		0.453	ENSG00000188596	1669	g.chr12:97073486G>A										39.164748	KEEP	18	20	-1	152	150	18	20	-1	84.221968	152	150	0.114007	1	0	0	0	0	1	0	0	0	--	--		0	A				213	GBM-28-2513-TP	p.R316Q	G	AGATCAATCCGACACAGCAGA	NM_198520	NP_940922	97073486	Q6ZTY8	CL063_HUMAN	0			7	1025	+	A	A			Missense_Mutation	316						
C12orf55	0	broad.mit.edu	GRCh37	12	97087506	97087506	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01	TCGA-32-2495-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000524981.4:c.6271C>T	p.Pro2091Ser	p.P2091S	ENST00000524981		2091	Cct/Tct	0			1			T	P/S	uc001tet.1	protein_coding	YES				6271/9291									skin(6)|ovary(1)	7	c.(1546-1548)CCT>TCT				hypothetical protein LOC374467				ENSP00000431759		45/68									COSM944779	45/68	.		ENST00000524981	Transcript						ENSG00000188596	g.chr12:97087506C>T	26456			MODERATE								--	--	1																																			1	1		benign(0)	p.P516S	NM_198520	NP_940922		deleterious(0)	1		C12orf55	HGNC	Q6ZTY8	CL063_HUMAN			R4GNI2_HUMAN,E9PJL5_HUMAN		12	1624	+			UPI0001F77A4D	516					SNV	C12orf55,missense_variant,p.Pro2091Ser,ENST00000524981,;C12orf55,non_coding_transcript_exon_variant,,ENST00000342887,;	uc001tet.1	c.1546C>T	6294/9766	1	1			c.1546C>T						12	SNP	c.(1546-1548)CCT>TCT	13	13			skin(6)|ovary(1)	7	Broad	hypothetical protein LOC374467			97087506		0.289	ENSG00000188596	1669	g.chr12:97087506C>T										94.946078	KEEP	22	19	-1	47	59	22	19	-1	99.83336	47	59	0.290323	1	0	0	0	0	1	0	0	0	--	--		0	T				237	GBM-32-2495-TP	p.P516S	C	ATAGGTTCTGCCTCTCCTTGC	NM_198520	NP_940922	97087506	Q6ZTY8	CL063_HUMAN	0			12	1624	+	T	T			Missense_Mutation	516						
C12orf57	113246	broad.mit.edu	GRCh37	12	7054965	7054965	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0214-01	TCGA-06-0214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000229281.5:c.261C>T	p.Ser87=	p.S87=	ENST00000229281	NM_138425.2	87	tcC/tcT	0			1			T	S	uc001qrz.2	protein_coding	YES	CCDS8571.1			261/381										0	c.(259-261)TCC>TCT			Pfam_domain:PF14974,hmmpanther:PTHR13463,hmmpanther:PTHR13463:SF3	C10 protein				ENSP00000229281		3-Mar									COSM3399047	3-Mar	.		ENST00000229281	Transcript	1					ENSG00000111678	g.chr12:7054965C>T	29521			LOW								--	--	1																																		PTPN6_uc001qsa.1_5'Flank|PTPN6_uc010sfr.1_5'Flank	1	1			p.S87S	NM_138425	NP_612434			1	C10_HUMAN	C12orf57	HGNC	Q99622	C10_HUMAN			U3KQ85_HUMAN		3	343	+			UPI0000126B9B	87					SNV	C12orf57,synonymous_variant,p.=,ENST00000537087,;C12orf57,synonymous_variant,p.=,ENST00000229281,NM_138425.2;C12orf57,synonymous_variant,p.=,ENST00000545581,;C12orf57,synonymous_variant,p.=,ENST00000540506,;ATN1,downstream_gene_variant,,ENST00000356654,NM_001007026.1;ATN1,downstream_gene_variant,,ENST00000396684,NM_001940.3;PTPN6,upstream_gene_variant,,ENST00000399448,NM_080548.4;PTPN6,upstream_gene_variant,,ENST00000447931,;C12orf57,downstream_gene_variant,,ENST00000544681,;PTPN6,upstream_gene_variant,,ENST00000543115,;RNU7-1,downstream_gene_variant,,ENST00000458811,NR_023317.1;U47924.31,upstream_gene_variant,,ENST00000607421,;C12orf57,non_coding_transcript_exon_variant,,ENST00000542222,;PTPN6,upstream_gene_variant,,ENST00000543120,;PTPN6,upstream_gene_variant,,ENST00000534900,;C12orf57,downstream_gene_variant,,ENST00000538392,;ATN1,downstream_gene_variant,,ENST00000537488,;PTPN6,upstream_gene_variant,,ENST00000538318,;PTPN6,upstream_gene_variant,,ENST00000542848,;	uc001qrz.2	c.261C>T	360/560	2	2			c.261C>T						12	SNP	c.(259-261)TCC>TCT	29	29				0	Broad	C10 protein			7054965		0.602	ENSG00000111678	1664	g.chr12:7054965C>T										26.46079	KEEP	6	4	-1	12	11	6	4	-1	27.837276	12	11	0.28125	1	0	0	0	0	0	0	1	0	--	--		0	T			PTPN6_uc001qsa.1_5'Flank|PTPN6_uc010sfr.1_5'Flank	50	GBM-06-0214-TP	p.S87S	C	TGGTCAAGTCCTACGAAGCCC	NM_138425	NP_612434	7054965	Q99622	C10_HUMAN	0			3	343	+	T	T			Silent	87						
C12orf60	0	broad.mit.edu	GRCh37	12	14975979	14975979	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-32-4208-01	TCGA-32-4208-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330828.2:c.110T>G	p.Phe37Cys	p.F37C	ENST00000330828	NM_175874.3	37	tTt/tGt	0			1			G	F/C	uc001rcj.3	protein_coding	YES	CCDS8667.1			110/738									ovary(1)|central_nervous_system(1)	2	c.(109-111)TTT>TGT			Pfam_domain:PF15047	hypothetical protein LOC144608				ENSP00000331691		2-Feb									COSM3398571	2-Feb	.		ENST00000330828	Transcript						ENSG00000182993	g.chr12:14975979T>G	28726			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=CL060_HUMAN&rb=1&re=166&var=F37C	NA	getma.org/?cm=var&var=hg19,12,14975979,T,G&fts=all	F37C	--	--	1																																			1	1		probably_damaging(0.977)	p.F37C	NM_175874	NP_787070		deleterious(0.03)	1	CL060_HUMAN	C12orf60	HGNC	Q5U649	CL060_HUMAN					2	314	+			UPI00001608A3	37					SNV	C12orf60,missense_variant,p.Phe37Cys,ENST00000330828,NM_175874.3;ART4,downstream_gene_variant,,ENST00000228936,NM_021071.2;C12orf60,intron_variant,,ENST00000527783,;C12orf60,intron_variant,,ENST00000533472,;	uc001rcj.3	c.110T>G	314/1684	3	3			c.110T>G						12	SNP	c.(109-111)TTT>TGT	56	56			ovary(1)|central_nervous_system(1)	2	Broad	hypothetical protein LOC144608			14975979		0.343	ENSG00000182993	1666	g.chr12:14975979T>G										61.500279	KEEP	19	33	-1	175	224	19	33	-1	122.55096	175	224	0.112195	1	0	0	0	0	1	0	0	0	--	--		0	G				243	GBM-32-4208-TP	p.F37C	T	ACTGAATTGTTTAGCCGCAGT	NM_175874	NP_787070	14975979	Q5U649	CL060_HUMAN	0			2	314	+	G	G			Missense_Mutation	37						
C12orf66	144577	broad.mit.edu	GRCh37	12	64588399	64588399	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0648-01	TCGA-06-0648-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398055.3:c.561C>T	p.Phe187=	p.F187=	ENST00000398055	NM_152440.4	187	ttC/ttT	0			1			A	F	uc001srw.3	protein_coding	YES	CCDS41803.1			561/1338									ovary(1)	1	c.(559-561)TTC>TTT			Superfamily_domains:0053959,Pfam_domain:PF09404,hmmpanther:PTHR31581,hmmpanther:PTHR31581:SF1	hypothetical protein LOC144577				ENSP00000381132		3-Mar									COSM2151351	3-Mar	.		ENST00000398055	Transcript						ENSG00000174206	g.chr12:64588399G>A	26517			LOW								--	--	1																																		C12orf66_uc009zql.2_Silent_p.F134F	1	1			p.F187F	NM_152440	NP_689653			1	CL066_HUMAN	C12orf66	HGNC	Q96MD2	CL066_HUMAN					3	620	-			UPI000013F222	187					SNV	C12orf66,synonymous_variant,p.=,ENST00000311915,;C12orf66,synonymous_variant,p.=,ENST00000398055,NM_152440.4;C12orf66,synonymous_variant,p.=,ENST00000544871,;	uc001srw.3	c.561C>T	615/2593	2	2			c.561C>T						12	SNP	c.(559-561)TTC>TTT	32	32			ovary(1)	1	Broad	hypothetical protein LOC144577			64588399		0.478	ENSG00000174206	1672	g.chr12:64588399G>A										117.635742	KEEP	21	21	-1	24	32	21	21	-1	118.049869	24	32	0.426966	1	0	0	0	0	0	0	1	0	--	--		0	A			C12orf66_uc009zql.2_Silent_p.F134F	61	GBM-06-0648-TP	p.F187F	G	CTTCCAGCTGGAAACTGCTTT	NM_152440	NP_689653	64588399	Q96MD2	CL066_HUMAN	0			3	620	-	A	A			Silent	187						
C12orf77	0	broad.mit.edu	GRCh37	12	25148921	25148921	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01	TCGA-14-0789-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000549828.1:c.227G>A	p.Arg76Gln	p.R76Q	ENST00000549828	NM_001101339.1	76	cGa/cAa	0			1			T	R/Q	uc001rgf.2	protein_coding	YES	CCDS44846.1			227/438										0	c.(226-228)CGA>CAA				hypothetical protein LOC196415				ENSP00000447146		4-Mar	8.27E-06					1.50E-05			rs768542299,COSM938120	4-Mar	.		ENST00000549828	Transcript						ENSG00000226397	g.chr12:25148921C>T	27282			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CL097_HUMAN&rb=1&re=145&var=R76Q	NA	getma.org/?cm=var&var=hg19,12,25148921,C,T&fts=all	R76Q	--	--	1																																			0,1	1		benign(0.016)	p.R76Q	NM_001101339	NP_001094809		tolerated_low_confidence(0.06)	0,1	CL097_HUMAN	C12orf77	HGNC	C9JDV5	CL097_HUMAN					3	432	-			UPI000016134F	76					SNV	C12orf77,missense_variant,p.Arg76Gln,ENST00000549828,NM_001101339.1;C12orf77,missense_variant,p.Arg21Gln,ENST00000549262,;C12orf77,missense_variant,p.Arg21Gln,ENST00000434912,;	uc001rgf.2	c.227G>A	432/1516	1	1			c.227G>A						12	SNP	c.(226-228)CGA>CAA	13	13				0	Broad	hypothetical protein LOC196415			25148921		0.502	ENSG00000226397	1679	g.chr12:25148921C>T										54.943756	KEEP	12	13	-1	39	24	12	13	-1	58.855318	39	24	0.265823	1	0	0	0	0	1	0	0	0	--	--		0	T				136	GBM-14-0789-TP	p.R76Q	C	AGGCATCCATCGTATGCTGTC	NM_001101339	NP_001094809	25148921	C9JDV5	CL097_HUMAN	0			3	432	-	T	T			Missense_Mutation	76						
C14orf105	0	broad.mit.edu	GRCh37	14	57949812	57949812	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5958-01	TCGA-19-5958-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216445.3:c.364C>T	p.Arg122Ter	p.R122*	ENST00000216445	NM_018168.2	122	Cga/Tga	0			1			A	R/*	uc001xcy.2	protein_coding	YES	CCDS9730.1			364/891										0	c.(364-366)CGA>TGA			Pfam_domain:PF15398,hmmpanther:PTHR16065	hypothetical protein LOC55195				ENSP00000216445		6-Mar	3.29E-05					1.50E-05		0.000182	rs747886419,COSM3401363	6-Mar	.		ENST00000216445	Transcript						ENSG00000100557	g.chr14:57949812G>A	20189			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,14,57949812,G,A&fts=all	R122*	--	--	1																																		C14orf105_uc010trl.1_Nonsense_Mutation_p.R122*|C14orf105_uc010trm.1_Nonsense_Mutation_p.R34*|C14orf105_uc010trn.1_Nonsense_Mutation_p.R34*|C14orf105_uc001xcz.2_Nonsense_Mutation_p.R122*|C14orf105_uc010aox.1_RNA|C14orf105_uc010aoy.1_Nonsense_Mutation_p.R44*	0,1	1			p.R122*	NM_018168	NP_060638			0,1	CN105_HUMAN	C14orf105	HGNC	Q9NVL8	CN105_HUMAN					3	507	-			UPI000013C6ED	122					SNV	C14orf105,stop_gained,p.Arg122Ter,ENST00000216445,NM_018168.2;C14orf105,stop_gained,p.Arg122Ter,ENST00000422976,NM_001283056.1;C14orf105,stop_gained,p.Arg122Ter,ENST00000534126,NM_001283057.1;C14orf105,3_prime_UTR_variant,,ENST00000526336,;C14orf105,upstream_gene_variant,,ENST00000524996,;C14orf105,3_prime_UTR_variant,,ENST00000526745,;C14orf105,3_prime_UTR_variant,,ENST00000530417,;C14orf105,3_prime_UTR_variant,,ENST00000534528,;C14orf105,3_prime_UTR_variant,,ENST00000529860,NM_001283060.1;C14orf105,non_coding_transcript_exon_variant,,ENST00000527032,;C14orf105,non_coding_transcript_exon_variant,,ENST00000532286,;	uc001xcy.2	c.364C>T	501/3082	5	1			c.364C>T						14	SNP	c.(364-366)CGA>TGA	49	49				0	Broad	hypothetical protein LOC55195			57949812		0.522	ENSG00000100557	1700	g.chr14:57949812G>A										-7.882439	KEEP	2	3	-1	42	29	2	3	-1	6.357454	42	29	0.046154	1	0	0	0	0	0	1	0	0	--	--		0	A			C14orf105_uc010trl.1_Nonsense_Mutation_p.R122*|C14orf105_uc010trm.1_Nonsense_Mutation_p.R34*|C14orf105_uc010trn.1_Nonsense_Mutation_p.R34*|C14orf105_uc001xcz.2_Nonsense_Mutation_p.R122*|C14orf105_uc010aox.1_RNA|C14orf105_uc010aoy.1_Nonsense_Mutation_p.R44*	176	GBM-19-5958-TP	p.R122*	G	CTGGCTTCTCGCTGGCTCAGG	NM_018168	NP_060638	57949812	Q9NVL8	CN105_HUMAN	0			3	507	-	A	A			Nonsense_Mutation	122						
C14orf166B	0	broad.mit.edu	GRCh37	14	77292858	77292858	+	stop_gained	Nonsense_Mutation	SNP	C	C	G			TCGA-32-4208-01	TCGA-32-4208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393774.3:c.20C>G	p.Ser7Ter	p.S7*	ENST00000393774	NM_194287.2	7	tCa/tGa	0			1			G	S/*	uc001xsx.2	protein_coding	YES	CCDS9853.2			20/1467										0	c.(19-21)TCA>TGA				hypothetical protein LOC145497				ENSP00000377369		14-Jan									COSM3401479	14-Jan	.		ENST00000393774	Transcript						ENSG00000100565	g.chr14:77292858C>G	23346			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,14,77292858,C,G&fts=all	S7*	--	--	1																																		C14orf166B_uc010asn.1_Translation_Start_Site|C14orf166B_uc001xsw.2_RNA|C14orf166B_uc010aso.1_RNA|C14orf166B_uc010tvg.1_RNA	1	1			p.S7*	NM_194287	NP_919263			1	CN16B_HUMAN	C14orf166B	HGNC	Q0VAA2	CN16B_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)			1	134	+			UPI000155D520	7					SNV	C14orf166B,stop_gained,p.Ser7Ter,ENST00000393774,NM_194287.2;C14orf166B,stop_gained,p.Ser7Ter,ENST00000555189,;C14orf166B,5_prime_UTR_variant,,ENST00000450042,;C14orf166B,upstream_gene_variant,,ENST00000216453,;C14orf166B,non_coding_transcript_exon_variant,,ENST00000460005,;ANGEL1,upstream_gene_variant,,ENST00000557497,;C14orf166B,stop_gained,p.Ser7Ter,ENST00000484640,;C14orf166B,stop_gained,p.Ser7Ter,ENST00000216450,;C14orf166B,stop_gained,p.Ser7Ter,ENST00000557453,;	uc001xsx.2	c.20C>G	144/1648	5	3			c.20C>G						14	SNP	c.(19-21)TCA>TGA	13	13				0	Broad	hypothetical protein LOC145497			77292858		0.547	ENSG00000100565	1720	g.chr14:77292858C>G				Ovarian(165;1056 1958 32571 36789 48728)			Ovarian(165;1056 1958 32571 36789 48728)			4.639352	KEEP	0	2	-1	4	9	0	2	-1	6.596373	4	9	0.133333	1	0	0	0	0	0	1	0	0	--	--		0	G			C14orf166B_uc010asn.1_Translation_Start_Site|C14orf166B_uc001xsw.2_RNA|C14orf166B_uc010aso.1_RNA|C14orf166B_uc010tvg.1_RNA	243	GBM-32-4208-TP	p.S7*	C	CAATTCCCATCAAAGCCTACT	NM_194287	NP_919263	77292858	Q0VAA2	CN16B_HUMAN	0	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)	1	134	+	G	G			Nonsense_Mutation	7						
C14orf182	0	broad.mit.edu	GRCh37	14	50472507	50472507	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0882-01	TCGA-06-0882-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399206.1:c.11G>A	p.Arg4Gln	p.R4Q	ENST00000399206	NM_001012706.1	4	cGg/cAg	0			1			T	R/Q	uc001wxi.1	protein_coding	YES	CCDS41949.1			11/324										0	c.(10-12)CGG>CAG			Pfam_domain:PF15422	hypothetical protein LOC283551				ENSP00000382157		4-Jan									COSM1198082	4-Jan	.		ENST00000399206	Transcript						ENSG00000214900	g.chr14:50472507C>T	27503			MODERATE								--	--	1																																			1	1		benign(0.022)	p.R4Q	NM_001012706	NP_001012724		tolerated_low_confidence(0.49)	1	CN182_HUMAN	C14orf182	HGNC	A1A4T8	CN182_HUMAN					1	1732	-			UPI000013F5E9	4					SNV	C14orf182,missense_variant,p.Arg4Gln,ENST00000399206,NM_001012706.1;RP11-58E21.3,downstream_gene_variant,,ENST00000557142,;RP11-58E21.3,downstream_gene_variant,,ENST00000553463,;RP11-58E21.3,downstream_gene_variant,,ENST00000603474,;C14orf182,non_coding_transcript_exon_variant,,ENST00000529902,;C14orf182,non_coding_transcript_exon_variant,,ENST00000528300,;C14orf182,non_coding_transcript_exon_variant,,ENST00000530176,;	uc001wxi.1	c.11G>A	1732/2686	2	2			c.11G>A						14	SNP	c.(10-12)CGG>CAG	42	42				0	Broad	hypothetical protein LOC283551			50472507		0.507	ENSG00000214900	1728	g.chr14:50472507C>T										-50.106708	KEEP	4	2	-1	141	94	4	2	-1	8.193115	141	94	0.025641	1	0	0	0	0	1	0	0	0	--	--		0	T				77	GBM-06-0882-TP	p.R4Q	C	GGTTGCCATCCGACCTGTCAT	NM_001012706	NP_001012724	50472507	A1A4T8	CN182_HUMAN	0			1	1732	-	T	T			Missense_Mutation	4						
C14orf183	0	broad.mit.edu	GRCh37	14	50550652	50550652	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305273.1:c.692G>A	p.Arg231His	p.R231H	ENST00000305273	NM_001014830.1	231	cGc/cAc	0			1			T	R/H	uc010tqk.1	protein_coding	YES	CCDS45101.1			692/975										0	c.(691-693)CGC>CAC				hypothetical protein LOC196913				ENSP00000303234		5-May	2.50E-05					3.87E-05		0.000122	rs756371556,COSM3401331	5-May	.		ENST00000305273	Transcript						ENSG00000168260	g.chr14:50550652C>T	27285			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CN183_HUMAN&rb=201&re=324&var=R231H	NA	getma.org/?cm=var&var=hg19,14,50550652,C,T&fts=all	R231H	--	--	1																																			0,1	1		possibly_damaging(0.715)	p.R231H	NM_001014830	NP_001014830		tolerated_low_confidence(0.76)	0,1	CN183_HUMAN	C14orf183	HGNC	Q8WXQ3	CN183_HUMAN					5	692	-			UPI00000733F8	231					SNV	C14orf183,missense_variant,p.Arg231His,ENST00000305273,NM_001014830.1;RP11-58E21.7,intron_variant,,ENST00000556019,;RP11-58E21.5,intron_variant,,ENST00000603228,;Y_RNA,upstream_gene_variant,,ENST00000515983,;	uc010tqk.1	c.692G>A	692/975	2	2			c.692G>A						14	SNP	c.(691-693)CGC>CAC	24	24				0	Broad	hypothetical protein LOC196913			50550652		0.662	ENSG00000168260	1729	g.chr14:50550652C>T										21.523039	KEEP	3	5	-1	7	4	3	5	-1	21.577448	7	4	0.4375	1	0	0	0	0	1	0	0	0	--	--		0	T				12	GBM-06-0125-TP	p.R231H	C	CTCTTGGAGGCGAGGTGGGGC	NM_001014830	NP_001014830	50550652	Q8WXQ3	CN183_HUMAN	0			5	692	-	T	T			Missense_Mutation	231						
C14orf37	0	broad.mit.edu	GRCh37	14	58605421	58605421	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0130-01	TCGA-06-0130-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267485.7:c.656del	p.Asn219IlefsTer42	p.N219Ifs*42	ENST00000267485	NM_001001872.2	219	aAt/at	0			1			-	N/X	uc001xdc.2	protein_coding	YES	CCDS32089.1			656/2325										0	c.(655-657)AATfs			hmmpanther:PTHR21585,hmmpanther:PTHR21585:SF0	hypothetical protein LOC145407 precursor				ENSP00000267485		8-Feb									COSM2149542	8-Feb	.		ENST00000267485	Transcript				integral to membrane	binding	ENSG00000139971	g.chr14:58605421delT	19846			HIGH								--	--	1																																		C14orf37_uc010tro.1_Frame_Shift_Del_p.N257fs|C14orf37_uc001xdd.2_Frame_Shift_Del_p.N219fs|C14orf37_uc001xde.2_Frame_Shift_Del_p.N219fs	1	1			p.N219fs	NM_001001872	NP_001001872			1	CN037_HUMAN	C14orf37	HGNC	Q86TY3	CN037_HUMAN					2	767	-			UPI000000CC37	219			Extracellular (Potential).		deletion	C14orf37,frameshift_variant,p.Asn219IlefsTer42,ENST00000267485,NM_001001872.2;C14orf37,non_coding_transcript_exon_variant,,ENST00000334342,;C14orf37,non_coding_transcript_exon_variant,,ENST00000557175,;C14orf37,downstream_gene_variant,,ENST00000554218,;UBA52P3,upstream_gene_variant,,ENST00000491303,;	uc001xdc.2	c.656delA	851/6495	5	5			c.656delA						14	DEL	c.(655-657)AATfs	45	45				0	Broad	hypothetical protein LOC145407 precursor			58605421		0.448	ENSG00000139971	1734	g.chr14:58605421delT		integral to membrane	binding																				0.25	1	1	0	1	0	0	0	0	0	--	--		0	-			C14orf37_uc010tro.1_Frame_Shift_Del_p.N257fs|C14orf37_uc001xdd.2_Frame_Shift_Del_p.N219fs|C14orf37_uc001xde.2_Frame_Shift_Del_p.N219fs	16	GBM-06-0130-TP	p.N219fs	T	AGTCTTTGGATTGGTGGTTAG	NM_001001872	NP_001001872	58605421	Q86TY3	CN037_HUMAN	0			2	767	-	-	-			Frame_Shift_Del	219			Extracellular (Potential).			
C14orf37	0	broad.mit.edu	GRCh37	14	58471770	58471770	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-2631-01	TCGA-19-2631-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267485.7:c.2252G>C	p.Arg751Thr	p.R751T	ENST00000267485	NM_001001872.2	751	aGa/aCa	0			1			G	R/T	uc001xdc.2	protein_coding	YES	CCDS32089.1			2252/2325										0	c.(2251-2253)AGA>ACA			hmmpanther:PTHR21585,hmmpanther:PTHR21585:SF0,Low_complexity_(Seg):seg	hypothetical protein LOC145407 precursor				ENSP00000267485		8-Jul									COSM2156425	8-Jul	.		ENST00000267485	Transcript				integral to membrane	binding	ENSG00000139971	g.chr14:58471770C>G	19846			MODERATE		1.795	low	getma.org/?cm=msa&ty=f&p=CN037_HUMAN&rb=7&re=772&var=R751T	NA	getma.org/?cm=var&var=hg19,14,58471770,C,G&fts=all	R751T	--	--	1																																		C14orf37_uc010tro.1_Missense_Mutation_p.R789T|C14orf37_uc001xdd.2_Missense_Mutation_p.R751T	1	1		benign(0.402)	p.R751T	NM_001001872	NP_001001872		deleterious(0)	1	CN037_HUMAN	C14orf37	HGNC	Q86TY3	CN037_HUMAN					7	2363	-			UPI000000CC37	751			Cytoplasmic (Potential).		SNV	C14orf37,missense_variant,p.Arg751Thr,ENST00000267485,NM_001001872.2;C14orf37,upstream_gene_variant,,ENST00000556788,;	uc001xdc.2	c.2252G>C	2447/6495	3	3			c.2252G>C						14	SNP	c.(2251-2253)AGA>ACA	3	3				0	Broad	hypothetical protein LOC145407 precursor			58471770		0.413	ENSG00000139971	1734	g.chr14:58471770C>G		integral to membrane	binding							159.191999	KEEP	32	29	-1	58	80	32	29	-1	165.172473	58	80	0.296296	1	0	0	0	0	1	0	0	0	--	--		0	G			C14orf37_uc010tro.1_Missense_Mutation_p.R789T|C14orf37_uc001xdd.2_Missense_Mutation_p.R751T	167	GBM-19-2631-TP	p.R751T	C	CCATACCTTTCTTTTATGCCT	NM_001001872	NP_001001872	58471770	Q86TY3	CN037_HUMAN	0			7	2363	-	G	G			Missense_Mutation	751			Cytoplasmic (Potential).			
C14orf39	317761	broad.mit.edu	GRCh37	14	60951623	60951623	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321731.3:c.82G>A	p.Glu28Lys	p.E28K	ENST00000321731	NM_174978.2	28	Gaa/Aaa	0			1			T	E/K	uc001xez.3	protein_coding	YES	CCDS9746.1			82/1764									ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	c.(82-84)GAA>AAA				hypothetical protein LOC317761				ENSP00000324920		18-Mar									COSM2149078	18-Mar	.		ENST00000321731	Transcript						ENSG00000179008	g.chr14:60951623C>T	19849			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=S6OS1_HUMAN&rb=1&re=585&var=E28K	NA	getma.org/?cm=var&var=hg19,14,60951623,C,T&fts=all	E28K	--	--	1																																		C14orf39_uc010apo.2_5'UTR	1	1		possibly_damaging(0.801)	p.E28K	NM_174978	NP_777638		deleterious(0.04)	1	S6OS1_HUMAN	C14orf39	HGNC	Q08AQ4	Q08AQ4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0448)	G3V493_HUMAN,G3V3U9_HUMAN		3	192	-			UPI0000140C15	28					SNV	C14orf39,missense_variant,p.Glu28Lys,ENST00000321731,NM_174978.2;C14orf39,missense_variant,p.Glu28Lys,ENST00000556799,;C14orf39,5_prime_UTR_variant,,ENST00000555476,;C14orf39,missense_variant,p.Glu28Lys,ENST00000557138,;	uc001xez.3	c.82G>A	242/2813	2	2			c.82G>A						14	SNP	c.(82-84)GAA>AAA	17	17			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	Broad	hypothetical protein LOC317761			60951623		0.264	ENSG00000179008	1735	g.chr14:60951623C>T										96.836235	KEEP	14	26	-1	43	42	14	26	-1	100.62015	43	42	0.302752	1	0	0	0	0	1	0	0	0	--	--		0	T			C14orf39_uc010apo.2_5'UTR	5	GBM-02-2470-TP	p.E28K	C	ATCATCTCTTCTTTAGTACTT	NM_174978	NP_777638	60951623	Q08AQ4	Q08AQ4_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.0448)	3	192	-	T	T			Missense_Mutation	28						
C14orf39	0	broad.mit.edu	GRCh37	14	60945101	60945101	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-26-6173-01	TCGA-26-6173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321731.3:c.240G>T	p.Lys80Asn	p.K80N	ENST00000321731	NM_174978.2	80	aaG/aaT	0			1			A	K/N	uc001xez.3	protein_coding	YES	CCDS9746.1			240/1764									ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	c.(238-240)AAG>AAT				hypothetical protein LOC317761				ENSP00000324920		18-May									COSM2246870	18-May	.		ENST00000321731	Transcript						ENSG00000179008	g.chr14:60945101C>A	19849			MODERATE		2.075	medium	getma.org/?cm=msa&ty=f&p=S6OS1_HUMAN&rb=1&re=585&var=K80N	NA	getma.org/?cm=var&var=hg19,14,60945101,C,A&fts=all	K80N	--	--	1																																		C14orf39_uc010apo.2_Intron	1	1		possibly_damaging(0.895)	p.K80N	NM_174978	NP_777638		deleterious(0)	1	S6OS1_HUMAN	C14orf39	HGNC	Q08AQ4	Q08AQ4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0448)	G3V493_HUMAN,G3V3U9_HUMAN		5	350	-			UPI0000140C15	80					SNV	C14orf39,missense_variant,p.Lys80Asn,ENST00000321731,NM_174978.2;C14orf39,missense_variant,p.Lys80Asn,ENST00000556799,;C14orf39,missense_variant,p.Lys51Asn,ENST00000555476,;C14orf39,intron_variant,,ENST00000557138,;	uc001xez.3	c.240G>T	400/2813	1	1			c.240G>T						14	SNP	c.(238-240)AAG>AAT	51	51			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	Broad	hypothetical protein LOC317761			60945101		0.259	ENSG00000179008	1735	g.chr14:60945101C>A										27.505124	KEEP	5	9	0.642857143	16	18	5	9	0.642857143	29.330557	16	18	0.275	1	0	0	0	0	1	0	0	0	--	--		0	A			C14orf39_uc010apo.2_Intron	187	GBM-26-6173-TP	p.K80N	C	CACATGTTGGCTTCCAGCTAT	NM_174978	NP_777638	60945101	Q08AQ4	Q08AQ4_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.0448)	5	350	-	A	A			Missense_Mutation	80						
C14orf39	0	broad.mit.edu	GRCh37	14	60938273	60938273	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-28-2502-01	TCGA-28-2502-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321731.3:c.508C>T	p.Arg170Ter	p.R170*	ENST00000321731	NM_174978.2	170	Cga/Tga	0			1			A	R/*	uc001xez.3	protein_coding	YES	CCDS9746.1			508/1764									ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	c.(508-510)CGA>TGA				hypothetical protein LOC317761				ENSP00000324920		18-Jun	4.95E-05		9.44E-05			6.96E-05		6.58E-05	rs754275662,COSM433195	18-Jun	.		ENST00000321731	Transcript						ENSG00000179008	g.chr14:60938273G>A	19849			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,14,60938273,G,A&fts=all	R170*	--	--	1																																		C14orf39_uc010apo.2_Intron	0,1	1			p.R170*	NM_174978	NP_777638			0,1	S6OS1_HUMAN	C14orf39	HGNC	Q08AQ4	Q08AQ4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0448)	G3V493_HUMAN,G3V3U9_HUMAN		6	618	-			UPI0000140C15	170					SNV	C14orf39,stop_gained,p.Arg170Ter,ENST00000321731,NM_174978.2;C14orf39,downstream_gene_variant,,ENST00000555476,;C14orf39,intron_variant,,ENST00000557138,;	uc001xez.3	c.508C>T	668/2813	5	2			c.508C>T						14	SNP	c.(508-510)CGA>TGA	48	48			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	Broad	hypothetical protein LOC317761			60938273		0.249	ENSG00000179008	1735	g.chr14:60938273G>A										2.031235	KEEP	7	2	-1	42	47	7	2	-1	18.440116	42	47	0.085106	1	0	0	0	0	0	1	0	0	--	--		0	A			C14orf39_uc010apo.2_Intron	210	GBM-28-2502-TP	p.R170*	G	TTAATACCTCGAAATTTCATA	NM_174978	NP_777638	60938273	Q08AQ4	Q08AQ4_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.0448)	6	618	-	A	A			Nonsense_Mutation	170						
C15orf26	0	broad.mit.edu	GRCh37	15	81428924	81428924	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0686-01	TCGA-06-0686-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286732.4:c.227A>G	p.Asp76Gly	p.D76G	ENST00000286732	NM_173528.2	76	gAt/gGt	0			1			G	D/G	uc002bgb.2	protein_coding	YES	CCDS42068.1			227/906										0	c.(226-228)GAT>GGT			hmmpanther:PTHR24274	hypothetical protein LOC161502				ENSP00000286732		7-Mar									COSM2151539	7-Mar	.		ENST00000286732	Transcript						ENSG00000156206	g.chr15:81428924A>G	26782			MODERATE		1.32	low	getma.org/?cm=msa&ty=f&p=CO026_HUMAN&rb=1&re=292&var=D76G	NA	getma.org/?cm=var&var=hg19,15,81428924,A,G&fts=all	D76G	--	--	1																																		C15orf26_uc010blp.1_Missense_Mutation_p.D51G	1	1		benign(0.023)	p.D76G	NM_173528	NP_775799		tolerated(0.51)	1	CO026_HUMAN	C15orf26	HGNC	Q6P656	CO026_HUMAN			H0YNS7_HUMAN,H0YM05_HUMAN		3	254	+			UPI000022562F	76					SNV	C15orf26,missense_variant,p.Asp76Gly,ENST00000286732,NM_173528.2;C15orf26,missense_variant,p.Asp51Gly,ENST00000560091,;C15orf26,missense_variant,p.Asp51Gly,ENST00000561216,;	uc002bgb.2	c.227A>G	310/1631	3	3			c.227A>G						15	SNP	c.(226-228)GAT>GGT	4	4				0	Broad	hypothetical protein LOC161502			81428924		0.408	ENSG00000156206	1749	g.chr15:81428924A>G										74.869442	KEEP	19	9	-1	44	26	19	9	-1	78.395491	44	26	0.293478	1	0	0	0	0	1	0	0	0	--	--		0	G			C15orf26_uc010blp.1_Missense_Mutation_p.D51G	64	GBM-06-0686-TP	p.D76G	A	GTGAATCCTGATGATCCTGAC	NM_173528	NP_775799	81428924	Q6P656	CO026_HUMAN	0			3	254	+	G	G			Missense_Mutation	76						
C15orf26	0	broad.mit.edu	GRCh37	15	81429012	81429012	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286732.4:c.315C>T	p.Asp105=	p.D105=	ENST00000286732	NM_173528.2	105	gaC/gaT	0	T:0	T:0	1	T:0		T	D	uc002bgb.2	protein_coding	YES	CCDS42068.1			315/906										0	c.(313-315)GAC>GAT			hmmpanther:PTHR24274	hypothetical protein LOC161502		T:0.001	T:0.0001	ENSP00000286732	T:0	7-Mar	6.61E-05	0.000102	8.64E-05	0.000116		3.00E-05		0.000182	rs371138907,COSM3401955	7-Mar	.		ENST00000286732	Transcript		T:0.0002				ENSG00000156206	g.chr15:81429012C>T	26782			LOW								--	--	1																																		C15orf26_uc010blp.1_Silent_p.D80D	0,1	1			p.D105D	NM_173528	NP_775799	T:0		0,1	CO026_HUMAN	C15orf26	HGNC	Q6P656	CO026_HUMAN			H0YNS7_HUMAN,H0YM05_HUMAN		3	342	+			UPI000022562F	105					SNV	C15orf26,synonymous_variant,p.=,ENST00000286732,NM_173528.2;C15orf26,synonymous_variant,p.=,ENST00000560091,;C15orf26,synonymous_variant,p.=,ENST00000561216,;	uc002bgb.2	c.315C>T	398/1631	1	1			c.315C>T						15	SNP	c.(313-315)GAC>GAT	5	5				0	Broad	hypothetical protein LOC161502			81429012		0.448	ENSG00000156206	1749	g.chr15:81429012C>T										71.262808	KEEP	13	12	-1	26	32	13	12	-1	73.10147	26	32	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	T			C15orf26_uc010blp.1_Silent_p.D80D	177	GBM-19-5959-TP	p.D105D	C	ATCTGAAAGACGAATTAGAGG	NM_173528	NP_775799	81429012	Q6P656	CO026_HUMAN	0			3	342	+	T	T			Silent	105						
C15orf27	0	broad.mit.edu	GRCh37	15	76484332	76484332	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-4097-01	TCGA-41-4097-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388942.3:c.792G>A	p.Ala264=	p.A264=	ENST00000388942	NM_152335.2	264	gcG/gcA	0			1			A	A	uc002bbq.2	protein_coding	YES	CCDS10289.2			792/1596										0	c.(790-792)GCG>GCA			Low_complexity_(Seg):seg,hmmpanther:PTHR12305:SF45,hmmpanther:PTHR12305	hypothetical protein LOC123591				ENSP00000373594		11-Sep									COSM3401936	11-Sep	.		ENST00000388942	Transcript				integral to membrane		ENSG00000169758	g.chr15:76484332G>A	26763			LOW								--	--	1																																		C15orf27_uc010bkp.2_Silent_p.A80A|C15orf27_uc002bbr.2_Silent_p.A80A|C15orf27_uc002bbs.2_5'UTR	1	1			p.A264A	NM_152335	NP_689548			1	CO027_HUMAN	C15orf27	HGNC	Q2M3C6	CO027_HUMAN					9	947	+			UPI0000DBEE67	264			Potential.		SNV	C15orf27,synonymous_variant,p.=,ENST00000388942,NM_152335.2;C15orf27,3_prime_UTR_variant,,ENST00000484722,;C15orf27,3_prime_UTR_variant,,ENST00000561302,;C15orf27,non_coding_transcript_exon_variant,,ENST00000558249,;	uc002bbq.2	c.792G>A	1068/2520	2	2			c.792G>A						15	SNP	c.(790-792)GCG>GCA	42	42				0	Broad	hypothetical protein LOC123591			76484332		0.716	ENSG00000169758	1750	g.chr15:76484332G>A		integral to membrane								2.299064	KEEP	2	2	-1	19	23	2	2	-1	7.867072	19	23	0.090909	1	0	0	0	0	0	0	1	0	--	--		0	A			C15orf27_uc010bkp.2_Silent_p.A80A|C15orf27_uc002bbr.2_Silent_p.A80A|C15orf27_uc002bbs.2_5'UTR	257	GBM-41-4097-TP	p.A264A	G	AGCTGCGCGCGCACCTGGCGC	NM_152335	NP_689548	76484332	Q2M3C6	CO027_HUMAN	0			9	947	+	A	A			Silent	264			Potential.			
C15orf32	0	broad.mit.edu	GRCh37	15	93015653	93015653	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-16-1045-01	TCGA-16-1045-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333334.2:c.275T>C	p.Val92Ala	p.V92A	ENST00000333334	NM_153040.2	92	gTg/gCg	0			1			C	V/A	uc002brc.1	protein_coding	YES	CCDS10373.1			275/537									ovary(1)	1	c.(274-276)GTG>GCG				hypothetical protein LOC145858				ENSP00000330267		3-Jan									COSM3402025	3-Jan	.		ENST00000333334	Transcript						ENSG00000183643	g.chr15:93015653T>C	26549			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=CO032_HUMAN&rb=1&re=177&var=V92A	NA	getma.org/?cm=var&var=hg19,15,93015653,T,C&fts=all	V92A	--	--	1																																		C15orf32_uc010bod.1_RNA	1	1		possibly_damaging(0.728)	p.V92A	NM_153040	NP_694585		tolerated_low_confidence(0.22)	1	CO032_HUMAN	C15orf32	HGNC	Q32M92	CO032_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)				1	747	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		UPI0000072820	92					SNV	C15orf32,missense_variant,p.Val92Ala,ENST00000333334,NM_153040.2;C15orf32,missense_variant,p.Val92Ala,ENST00000556865,;ST8SIA2,downstream_gene_variant,,ENST00000268164,NM_006011.3;RP11-763K15.1,upstream_gene_variant,,ENST00000554440,;	uc002brc.1	c.275T>C	770/1749	3	3			c.275T>C						15	SNP	c.(274-276)GTG>GCG	64	64			ovary(1)	1	Broad	hypothetical protein LOC145858			93015653		0.279	ENSG00000183643	1752	g.chr15:93015653T>C										-15.955697	KEEP	4	3	-1	71	76	4	3	-1	12.612985	71	76	0.046154	1	0	0	0	0	1	0	0	0	--	--		0	C			C15orf32_uc010bod.1_RNA	157	GBM-16-1045-TP	p.V92A	T	agctcacgagtggATGGTTTG	NM_153040	NP_694585	93015653	Q32M92	CO032_HUMAN	0	BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)		1	747	+	C	C	Lung NSC(78;0.0893)|all_lung(78;0.125)		Missense_Mutation	92						
C15orf38			GRCh37	15	90451602	90451602	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000357484.5:c.211C>T	p.Arg71Cys	p.R71C	ENST00000357484	NM_182616.2	71	Cgc/Tgc	0																																																																																																																																																																																																																																												
C15orf43	0	broad.mit.edu	GRCh37	15	45249150	45249150	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-2567-01	TCGA-06-2567-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340827.3:c.121G>C	p.Asp41His	p.D41H	ENST00000340827	NM_152448.2	41	Gat/Cat	0			1			C	D/H	uc001zuk.2	protein_coding	YES	CCDS10115.1			121/663										0	c.(121-123)GAT>CAT			Pfam_domain:PF15101	hypothetical protein LOC145645				ENSP00000340644		7-Feb									COSM2153041	7-Feb	.		ENST00000340827	Transcript						ENSG00000167014	g.chr15:45249150G>C	28520			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=CO043_HUMAN&rb=1&re=218&var=D41H	NA	getma.org/?cm=var&var=hg19,15,45249150,G,C&fts=all	D41H	--	--	1																																			1	1		probably_damaging(1)	p.D41H	NM_152448	NP_689661		deleterious(0)	1	CO043_HUMAN	C15orf43	HGNC	Q8NHR7	CO043_HUMAN		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)			2	138	+		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)	UPI000007232D	41					SNV	C15orf43,missense_variant,p.Asp41His,ENST00000340827,NM_152448.2;C15orf43,3_prime_UTR_variant,,ENST00000559137,;C15orf43,3_prime_UTR_variant,,ENST00000557864,;	uc001zuk.2	c.121G>C	138/1281	4	4			c.121G>C						15	SNP	c.(121-123)GAT>CAT	34	34				0	Broad	hypothetical protein LOC145645			45249150		0.577	ENSG00000167014	1759	g.chr15:45249150G>C										88.325472	KEEP	16	16	-1	24	35	16	16	-1	90.00035	24	35	0.342105	1	0	0	0	0	1	0	0	0	--	--		0	C				89	GBM-06-2567-TP	p.D41H	G	GTTCAGCTGTGATGCCTCGCA	NM_152448	NP_689661	45249150	Q8NHR7	CO043_HUMAN	0		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)	2	138	+	C	C		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)	Missense_Mutation	41						
C15orf48	84419	broad.mit.edu	GRCh37	15	45723253	45723253	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs143173357		TCGA-06-2564-01	TCGA-06-2564-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344300.3:c.91G>A	p.Ala31Thr	p.A31T	ENST00000344300	NM_032413.3	31	Gct/Act	0	A:0		1			A	A/T	uc001zvg.2	protein_coding	YES	CCDS10124.1			91/252								p.A31P(1)	ovary(1)	1	c.(91-93)GCT>ACT			Transmembrane_helices:TMhelix,hmmpanther:PTHR14256:SF3,hmmpanther:PTHR14256,Pfam_domain:PF06522	normal mucosa of esophagus specific 1			A:0.0001	ENSP00000341610		4-Feb	8.24E-06					1.50E-05			rs143173357,COSM2152921	4-Feb	.		ENST00000344300	Transcript				nucleus		ENSG00000166920	g.chr15:45723253G>A	29898			MODERATE								--	--	1																																		C15orf48_uc001zvh.2_Missense_Mutation_p.A31T|MIR147B_hsa-mir-147b|MI0005544_5'Flank	0,1	1		possibly_damaging(0.558)	p.A31T	NM_197955	NP_922946		deleterious(0.01)	0,1	NMES1_HUMAN	C15orf48	HGNC	Q9C002	NMES1_HUMAN		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)			3	209	+		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	UPI00000361EC	31					SNV	C15orf48,missense_variant,p.Ala31Thr,ENST00000344300,NM_032413.3;C15orf48,missense_variant,p.Ala31Thr,ENST00000396650,NM_197955.2;C15orf48,missense_variant,p.Ala31Thr,ENST00000558435,;MIR147B,upstream_gene_variant,,ENST00000390185,;RP11-519G16.5,intron_variant,,ENST00000559553,;C15orf48,non_coding_transcript_exon_variant,,ENST00000558632,;	uc001zvg.2	c.91G>A	281/875	2	2			c.91G>A						15	SNP	c.(91-93)GCT>ACT	17	17		p.A31P(1)	ovary(1)	1	Broad	normal mucosa of esophagus specific 1			45723253		0.413	ENSG00000166920	1761	g.chr15:45723253G>A		nucleus								138.042012	KEEP	34	28	-1	81	73	34	28	-1	146.523064	81	73	0.280612	1	0	0	0	0	1	0	0	0	--	--		0	A			C15orf48_uc001zvh.2_Missense_Mutation_p.A31T|MIR147B_hsa-mir-147b|MI0005544_5'Flank	87	GBM-06-2564-TP	p.A31T	G	CTCATCTTTCGCTGTGTATTC	NM_197955	NP_922946	45723253	Q9C002	NMES1_HUMAN	0		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)	3	209	+	A	A		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	Missense_Mutation	31						
C15orf48	0	broad.mit.edu	GRCh37	15	45724277	45724277	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-19-2623-01	TCGA-19-2623-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344300.3:c.130C>T	p.Arg44Ter	p.R44*	ENST00000344300	NM_032413.3	44	Cga/Tga	0			1			T	R/*	uc001zvg.2	protein_coding	YES	CCDS10124.1			130/252									ovary(1)	1	c.(130-132)CGA>TGA			hmmpanther:PTHR14256:SF3,hmmpanther:PTHR14256,Pfam_domain:PF06522	normal mucosa of esophagus specific 1				ENSP00000341610		4-Mar									COSM3401770	4-Mar	.		ENST00000344300	Transcript				nucleus		ENSG00000166920	g.chr15:45724277C>T	29898			HIGH								--	--	1																																		C15orf48_uc001zvh.2_Nonsense_Mutation_p.R44*|MIR147B_hsa-mir-147b|MI0005544_5'Flank	1	1			p.R44*	NM_197955	NP_922946			1	NMES1_HUMAN	C15orf48	HGNC	Q9C002	NMES1_HUMAN		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)			4	248	+		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	UPI00000361EC	44					SNV	C15orf48,stop_gained,p.Arg44Ter,ENST00000344300,NM_032413.3;C15orf48,stop_gained,p.Arg44Ter,ENST00000396650,NM_197955.2;C15orf48,stop_gained,p.Arg44Ter,ENST00000558435,;MIR147B,upstream_gene_variant,,ENST00000390185,;RP11-519G16.5,intron_variant,,ENST00000559553,;C15orf48,downstream_gene_variant,,ENST00000558632,;	uc001zvg.2	c.130C>T	320/875	5	1			c.130C>T						15	SNP	c.(130-132)CGA>TGA	10	10			ovary(1)	1	Broad	normal mucosa of esophagus specific 1			45724277		0.313	ENSG00000166920	1761	g.chr15:45724277C>T		nucleus								56.403875	KEEP	12	9	-1	31	24	12	9	-1	58.0635	31	24	0.322034	1	0	0	0	0	0	1	0	0	--	--		0	T			C15orf48_uc001zvh.2_Nonsense_Mutation_p.R44*|MIR147B_hsa-mir-147b|MI0005544_5'Flank	163	GBM-19-2623-TP	p.R44*	C	TAGCCTTGATCGAAAAAAAAA	NM_197955	NP_922946	45724277	Q9C002	NMES1_HUMAN	0		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)	4	248	+	T	T		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	Nonsense_Mutation	44						
C15orf52	0	broad.mit.edu	GRCh37	15	40629935	40629935	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01	TCGA-06-2562-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000559313.1:c.805G>A	p.Ala269Thr	p.A269T	ENST00000559313	NM_207380.2	269	Gcc/Acc	0			1			T	A/T	uc001zlh.3	protein_coding	YES	CCDS10055.2			805/1605									large_intestine(1)	1	c.(805-807)GCC>ACC			Pfam_domain:PF15266,hmmpanther:PTHR15635,hmmpanther:PTHR15635:SF10	hypothetical protein LOC388115				ENSP00000453969		11-Jun									COSM3401702,COSM3401703	11-Jun	.		ENST00000559313	Transcript						ENSG00000188549	g.chr15:40629935C>T	33488			MODERATE		1.145	low	getma.org/?cm=msa&ty=f&p=CO052_HUMAN&rb=61&re=367&var=A269T	NA	getma.org/?cm=var&var=hg19,15,40629935,C,T&fts=all	A269T	--	--	1																																		C15orf52_uc001zli.1_Missense_Mutation_p.A201T|C15orf52_uc010ucn.1_Missense_Mutation_p.A59T	1,1	1		benign(0.253)	p.A269T	NM_207380	NP_997263		tolerated(0.39)	1,1	CO052_HUMAN	C15orf52	HGNC	Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	H0YM82_HUMAN,H0YK65_HUMAN		6	821	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	UPI00001C0AEA	269					SNV	C15orf52,missense_variant,p.Ala59Thr,ENST00000397536,;C15orf52,missense_variant,p.Ala269Thr,ENST00000559313,NM_207380.2;C15orf52,5_prime_UTR_variant,,ENST00000558858,;C15orf52,downstream_gene_variant,,ENST00000560922,;C15orf52,downstream_gene_variant,,ENST00000557973,;C15orf52,non_coding_transcript_exon_variant,,ENST00000382688,;C15orf52,non_coding_transcript_exon_variant,,ENST00000558912,;	uc001zlh.3	c.805G>A	821/3022	1	1			c.805G>A						15	SNP	c.(805-807)GCC>ACC	10	10			large_intestine(1)	1	Broad	hypothetical protein LOC388115			40629935		0.701	ENSG00000188549	1762	g.chr15:40629935C>T										1.800469	KEEP	1	2	-1	13	17	1	2	-1	6.852997	13	17	0.096774	1	0	0	0	0	1	0	0	0	--	--		0	T			C15orf52_uc001zli.1_Missense_Mutation_p.A201T|C15orf52_uc010ucn.1_Missense_Mutation_p.A59T	85	GBM-06-2562-TP	p.A269T	C	GTGGACTTGGCCTTGTCCAGG	NM_207380	NP_997263	40629935	Q6ZUT6	CO052_HUMAN	0		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	6	821	-	T	T		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	Missense_Mutation	269						
C16orf45	0	broad.mit.edu	GRCh37	16	15609227	15609227	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01	TCGA-14-3476-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300006.4:c.172G>A	p.Ala58Thr	p.A58T	ENST00000300006	NM_033201.2	58	Gca/Aca	0			1			A	A/T	uc002ddo.2	protein_coding	YES	CCDS10561.1			172/615									ovary(1)	1	c.(172-174)GCA>ACA			Pfam_domain:PF12130,hmmpanther:PTHR22704,hmmpanther:PTHR22704:SF1	hypothetical protein LOC89927 isoform 1				ENSP00000300006		6-Feb									COSM3402097	6-Feb	.		ENST00000300006	Transcript						ENSG00000166780	g.chr16:15609227G>A	19213			MODERATE		1.01	low	getma.org/?cm=msa&ty=f&p=CP045_HUMAN&rb=4&re=150&var=A58T	NA	getma.org/?cm=var&var=hg19,16,15609227,G,A&fts=all	A58T	--	--	1																																		C16orf45_uc002ddp.2_Missense_Mutation_p.A41T	1	1		benign(0.032)	p.A58T	NM_033201	NP_149978		tolerated(0.23)	1	CP045_HUMAN	C16orf45	HGNC	Q96MC5	CP045_HUMAN			B4DE25_HUMAN		2	358	+			UPI000006CFC7	58					SNV	C16orf45,missense_variant,p.Ala58Thr,ENST00000300006,NM_033201.2;C16orf45,missense_variant,p.Ala41Thr,ENST00000452191,NM_001142469.1;C16orf45,missense_variant,p.Ala58Thr,ENST00000566490,;C16orf45,missense_variant,p.Ala23Thr,ENST00000564389,;C16orf45,missense_variant,p.Ala10Thr,ENST00000561692,;RP11-1021N1.1,downstream_gene_variant,,ENST00000568766,;C16orf45,missense_variant,p.Ala58Thr,ENST00000561813,;C16orf45,3_prime_UTR_variant,,ENST00000570249,;C16orf45,non_coding_transcript_exon_variant,,ENST00000567550,;RP11-1021N1.1,downstream_gene_variant,,ENST00000568222,;RP11-1021N1.1,downstream_gene_variant,,ENST00000567442,;	uc002ddo.2	c.172G>A	531/2404	1	1			c.172G>A						16	SNP	c.(172-174)GCA>ACA	53	53			ovary(1)	1	Broad	hypothetical protein LOC89927 isoform 1			15609227		0.527	ENSG00000166780	1775	g.chr16:15609227G>A										-13.483647	KEEP	2	2	-1	46	53	2	2	-1	7.351742	46	53	0.043011	1	0	0	0	0	1	0	0	0	--	--		0	A			C16orf45_uc002ddp.2_Missense_Mutation_p.A41T	151	GBM-14-3476-TP	p.A58T	G	GCTGGAGATGGCAAAAATTCA	NM_033201	NP_149978	15609227	Q96MC5	CP045_HUMAN	0			2	358	+	A	A			Missense_Mutation	58						
C16orf59	0	broad.mit.edu	GRCh37	16	2512205	2512205	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01	TCGA-32-4208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361837.4:c.715G>A	p.Ala239Thr	p.A239T	ENST00000361837	NM_025108.2	239	Gcc/Acc	0			1			A	A/T	uc002cqh.2	protein_coding	YES	CCDS10468.2			715/1302										0	c.(715-717)GCC>ACC			hmmpanther:PTHR14870,Low_complexity_(Seg):seg	hypothetical protein LOC80178				ENSP00000355022		10-Jun									COSM3402204	10-Jun	.		ENST00000361837	Transcript						ENSG00000162062	g.chr16:2512205G>A	25849			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=CP059_HUMAN&rb=1&re=430&var=A239T	NA	getma.org/?cm=var&var=hg19,16,2512205,G,A&fts=all	A239T	--	--	1																																		C16orf59_uc002cqf.1_Missense_Mutation_p.A239T|C16orf59_uc002cqg.1_Missense_Mutation_p.A72T|C16orf59_uc002cqi.2_Missense_Mutation_p.A72T|C16orf59_uc010uwb.1_Missense_Mutation_p.A72T	1	1		possibly_damaging(0.453)	p.A239T	NM_025108	NP_079384		deleterious(0.04)	1	CP059_HUMAN	C16orf59	HGNC	Q7L2K0	CP059_HUMAN			H3BPH1_HUMAN		6	746	+		Ovarian(90;0.17)	UPI000059D2F3	239					SNV	C16orf59,missense_variant,p.Ala239Thr,ENST00000569496,;C16orf59,missense_variant,p.Ala239Thr,ENST00000563531,;C16orf59,missense_variant,p.Ala72Thr,ENST00000483320,;C16orf59,missense_variant,p.Ala239Thr,ENST00000361837,NM_025108.2;C16orf59,missense_variant,p.Ala206Thr,ENST00000567489,;C16orf59,5_prime_UTR_variant,,ENST00000568753,;CCNF,downstream_gene_variant,,ENST00000397066,NM_001761.2;RP11-715J22.4,upstream_gene_variant,,ENST00000566085,;RP11-715J22.4,upstream_gene_variant,,ENST00000565827,;RP11-715J22.2,downstream_gene_variant,,ENST00000563775,;C16orf59,synonymous_variant,p.=,ENST00000565716,;C16orf59,non_coding_transcript_exon_variant,,ENST00000569994,;C16orf59,non_coding_transcript_exon_variant,,ENST00000566580,;CCNF,downstream_gene_variant,,ENST00000293968,;C16orf59,downstream_gene_variant,,ENST00000569664,;C16orf59,downstream_gene_variant,,ENST00000562253,;C16orf59,downstream_gene_variant,,ENST00000569665,;C16orf59,downstream_gene_variant,,ENST00000565537,;	uc002cqh.2	c.715G>A	780/1662	2	2			c.715G>A						16	SNP	c.(715-717)GCC>ACC	26	26				0	Broad	hypothetical protein LOC80178			2512205		0.612	ENSG00000162062	1783	g.chr16:2512205G>A										-2.708923	KEEP	3	0	-1	27	57	3	0	-1	6.862011	27	57	0.0625	1	0	0	0	0	1	0	0	0	--	--		0	A			C16orf59_uc002cqf.1_Missense_Mutation_p.A239T|C16orf59_uc002cqg.1_Missense_Mutation_p.A72T|C16orf59_uc002cqi.2_Missense_Mutation_p.A72T|C16orf59_uc010uwb.1_Missense_Mutation_p.A72T	243	GBM-32-4208-TP	p.A239T	G	TGCCGCCGCTGCCAAAACCCA	NM_025108	NP_079384	2512205	Q7L2K0	CP059_HUMAN	0			6	746	+	A	A		Ovarian(90;0.17)	Missense_Mutation	239						
C16orf78	123970		GRCh37	16	49407930	49407930	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000299191.3:c.80G>A	p.Arg27His	p.R27H	ENST00000299191	NM_144602.2	27	cGc/cAc	0																																																																																																																																																																																																																																												
C16orf82	162083		GRCh37	16	27078770	27078770	+	non_coding_transcript_exon_variant	RNA	DEL	G	G	-			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000505035.1:n.745del		p.*249*	ENST00000505035				0																																																																																																																																																																																																																																												
C16orf91	283951	broad.mit.edu	GRCh37	16	1470457	1470457	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0128-01	TCGA-06-0128-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310355.1:c.660G>A	p.Ser220=	p.S220=	ENST00000310355		220	tcG/tcA	0			1			T	S	uc002clr.2	protein_coding		CCDS61789.1			189/399										0	c.(187-189)TCG>TCA			Prints_domain:PR02042,Pfam_domain:PF15013	hypothetical protein LOC283951				ENSP00000413100		2-Feb									COSM3402090,COSM3402091	2-Feb	.		ENST00000442039	Transcript				integral to membrane		ENSG00000174109	g.chr16:1470457C>T	27558			LOW								--	--	1																																		C16orf91_uc010uvd.1_Silent_p.S220S	1,1				p.S63S	NM_001010878	NP_001010878			1,1	CSMT1_HUMAN	C16orf91	HGNC	Q4G0I0	CSMT1_HUMAN			H3BP47_HUMAN		2	210	-			UPI0000197463	63			Extracellular (Potential).		SNV	C16orf91,synonymous_variant,p.=,ENST00000310355,;C16orf91,synonymous_variant,p.=,ENST00000442039,NM_001272051.1;C16orf91,5_prime_UTR_variant,,ENST00000563974,;	uc002clr.2	c.189G>A	266/978	2	2			c.189G>A						16	SNP	c.(187-189)TCG>TCA	46	46				0	Broad	hypothetical protein LOC283951			1470457		0.652	ENSG00000174109	1803	g.chr16:1470457C>T		integral to membrane								35.479551	KEEP	8	11	-1	41	76	8	11	-1	49.10613	41	76	0.152542	1	0	0	0	0	0	0	1	0	--	--		0	T			C16orf91_uc010uvd.1_Silent_p.S220S	14	GBM-06-0128-TP	p.S63S	C	TATGGCCCACCGACCAGCGGT	NM_001010878	NP_001010878	1470457	Q4G0I0	CSMT1_HUMAN	0			2	210	-	T	T			Silent	63			Extracellular (Potential).			
C17orf100	0	broad.mit.edu	GRCh37	17	6555309	6555309	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000391428.2:c.76C>A	p.Arg26Ser	p.R26S	ENST00000391428	NM_001105520.1	26	Cgc/Agc	0			1			A	R/S	uc010clp.1	protein_coding	YES				76/495										0	c.(76-78)CGC>AGC			Low_complexity_(Seg):seg	hypothetical protein LOC388327				ENSP00000375247		1-Jan									COSM3403138	1-Jan	.		ENST00000391428	Transcript						ENSG00000212734	g.chr17:6555309C>A	34494			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CQ100_HUMAN&rb=1&re=40&var=R26S	NA	getma.org/?cm=var&var=hg19,17,6555309,C,A&fts=all	R26S	--	--	1																																		MED31_uc002gdg.3_5'Flank|MED31_uc002gdh.3_5'Flank	1	1		possibly_damaging(0.858)	p.R26S	NM_001105520	NP_001098990		tolerated_low_confidence(0.09)	1	CQ100_HUMAN	C17orf100	HGNC	D3DTM5	D3DTM5_HUMAN					1	251	+			UPI0000200788	26					SNV	C17orf100,missense_variant,p.Arg26Ser,ENST00000391428,NM_001105520.1;MED31,upstream_gene_variant,,ENST00000225728,NM_016060.2;MED31,upstream_gene_variant,,ENST00000574128,;MED31,upstream_gene_variant,,ENST00000575197,;MIR4520A,downstream_gene_variant,,ENST00000582609,;CTC-281F24.1,downstream_gene_variant,,ENST00000576138,;MED31,upstream_gene_variant,,ENST00000575519,;AC004706.1,non_coding_transcript_exon_variant,,ENST00000542475,;	uc010clp.1	c.76C>A	339/1821	2	2			c.76C>A						17	SNP	c.(76-78)CGC>AGC	25	25				0	Broad	hypothetical protein LOC388327			6555309		0.736	ENSG00000212734	1806	g.chr17:6555309C>A										7.148704	KEEP	3	0	-1	3	1	3	0	-1	7.295956	3	1	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	A			MED31_uc002gdg.3_5'Flank|MED31_uc002gdh.3_5'Flank	160	GBM-19-1790-TP	p.R26S	C	GTCCACGGTCCGCGTGGAGAC	NM_001105520	NP_001098990	6555309	D3DTM5	D3DTM5_HUMAN	0			1	251	+	A	A			Missense_Mutation	26						
C17orf102	400591	broad.mit.edu	GRCh37	17	32905952	32905952	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-02-2470-01	TCGA-02-2470-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357754.1:c.348C>A	p.Asn116Lys	p.N116K	ENST00000357754	NM_207454.2	116	aaC/aaA	0			1			T	N/K	uc002hie.1	protein_coding	YES	CCDS42297.1			348/504									ovary(1)	1	c.(346-348)AAC>AAA				hypothetical protein LOC400591				ENSP00000350392		2-Jan									COSM3402773	2-Jan	.		ENST00000357754	Transcript						ENSG00000197322	g.chr17:32905952G>T	34412			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CQ102_HUMAN&rb=1&re=166&var=N116K	NA	getma.org/?cm=var&var=hg19,17,32905952,G,T&fts=all	N116K	--	--	1																																		TMEM132E_uc002hif.2_5'Flank	1	1		benign(0.008)	p.N116K	NM_207454	NP_997337		tolerated_low_confidence(0.38)	1	CQ102_HUMAN	C17orf102	HGNC	A2RUQ5	CQ102_HUMAN					1	437	-			UPI0000456A77	116					SNV	C17orf102,missense_variant,p.Asn116Lys,ENST00000357754,NM_207454.2;TMEM132E,upstream_gene_variant,,ENST00000321639,NM_207313.1;	uc002hie.1	c.348C>A	437/3997	1	1			c.348C>A						17	SNP	c.(346-348)AAC>AAA	10	10			ovary(1)	1	Broad	hypothetical protein LOC400591			32905952		0.607	ENSG00000197322	1808	g.chr17:32905952G>T										-73.211548	KEEP	1	4	0.2	149	200	1	4	0.2	9.857303	149	200	0.015974	1	0	0	0	0	1	0	0	0	--	--		0	T			TMEM132E_uc002hif.2_5'Flank	5	GBM-02-2470-TP	p.N116K	G	GAATAAATAGGTTTCCCACAG	NM_207454	NP_997337	32905952	A2RUQ5	CQ102_HUMAN	0			1	437	-	T	T			Missense_Mutation	116						
C17orf47	5414	broad.mit.edu	GRCh37	17	56621053	56621053	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-02-2485-01	TCGA-02-2485-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321691.3:c.495G>T	p.Lys165Asn	p.K165N	ENST00000321691	NM_001038704.2	165	aaG/aaT	0			1			A	K/N	uc002iwq.1	protein_coding	YES	CCDS32691.1			495/1713									breast(1)	1	c.(493-495)AAG>AAT			Pfam_domain:PF15548	hypothetical protein LOC284083				ENSP00000354874		2-Jan									COSM3403060	2-Jan	.		ENST00000321691	Transcript						ENSG00000181013	g.chr17:56621053C>A	26844			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=CQ047_HUMAN&rb=50&re=550&var=K165N	NA	getma.org/?cm=var&var=hg19,17,56621053,C,A&fts=all	K165N	--	--	1																																		SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank	1	1		possibly_damaging(0.895)	p.K165N	NM_001038704	NP_001033793		deleterious(0.02)	1	CQ047_HUMAN	C17orf47	HGNC	Q8NEP4	CQ047_HUMAN					1	631	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		UPI0000140BFA	165					SNV	C17orf47,missense_variant,p.Lys165Asn,ENST00000321691,NM_001038704.2;SEPT4,upstream_gene_variant,,ENST00000457347,NM_001256782.1;SEPT4,upstream_gene_variant,,ENST00000412945,NM_001198713.1;RP11-112H10.4,non_coding_transcript_exon_variant,,ENST00000580769,;RP11-112H10.4,intron_variant,,ENST00000578022,;RP11-112H10.4,intron_variant,,ENST00000580589,;SEPT4,upstream_gene_variant,,ENST00000581921,;	uc002iwq.1	c.495G>T	677/2123	2	2			c.495G>T						17	SNP	c.(493-495)AAG>AAT	32	32			breast(1)	1	Broad	hypothetical protein LOC284083			56621053		0.478	ENSG00000181013	1817	g.chr17:56621053C>A										71.42061	KEEP	19	27	0.586956522	138	132	19	27	0.586956522	105.409811	138	132	0.149306	1	0	0	0	0	1	0	0	0	--	--		0	A			SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank	7	GBM-02-2485-TP	p.K165N	C	GTAAGTTATTCTTCTGGTCTT	NM_001038704	NP_001033793	56621053	Q8NEP4	CQ047_HUMAN	0			1	631	-	A	A	Medulloblastoma(34;0.127)|all_neural(34;0.237)		Missense_Mutation	165						
C17orf47	0	broad.mit.edu	GRCh37	17	56621327	56621327	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-27-2524-01	TCGA-27-2524-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321691.3:c.221A>T	p.Gln74Leu	p.Q74L	ENST00000321691	NM_001038704.2	74	cAg/cTg	0			1			A	Q/L	uc002iwq.1	protein_coding	YES	CCDS32691.1			221/1713									breast(1)	1	c.(220-222)CAG>CTG			Pfam_domain:PF15548	hypothetical protein LOC284083				ENSP00000354874		2-Jan									COSM3403061	2-Jan	.		ENST00000321691	Transcript						ENSG00000181013	g.chr17:56621327T>A	26844			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=CQ047_HUMAN&rb=50&re=550&var=Q74L	NA	getma.org/?cm=var&var=hg19,17,56621327,T,A&fts=all	Q74L	--	--	1																																			1	1		benign(0.01)	p.Q74L	NM_001038704	NP_001033793		deleterious(0.01)	1	CQ047_HUMAN	C17orf47	HGNC	Q8NEP4	CQ047_HUMAN					1	357	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		UPI0000140BFA	74					SNV	C17orf47,missense_variant,p.Gln74Leu,ENST00000321691,NM_001038704.2;SEPT4,upstream_gene_variant,,ENST00000457347,NM_001256782.1;SEPT4,upstream_gene_variant,,ENST00000412945,NM_001198713.1;RP11-112H10.4,non_coding_transcript_exon_variant,,ENST00000580769,;RP11-112H10.4,intron_variant,,ENST00000578022,;RP11-112H10.4,intron_variant,,ENST00000580589,;SEPT4,upstream_gene_variant,,ENST00000581921,;	uc002iwq.1	c.221A>T	403/2123	1	1			c.221A>T						17	SNP	c.(220-222)CAG>CTG	61	61			breast(1)	1	Broad	hypothetical protein LOC284083			56621327		0.567	ENSG00000181013	1817	g.chr17:56621327T>A										99.069544	KEEP	17	22	-1	45	54	17	22	-1	103.890777	45	54	0.289256	1	0	0	0	0	1	0	0	0	--	--		0	A				202	GBM-27-2524-TP	p.Q74L	T	AGGTCCTGACTGGAGGGAGAC	NM_001038704	NP_001033793	56621327	Q8NEP4	CQ047_HUMAN	0			1	357	-	A	A	Medulloblastoma(34;0.127)|all_neural(34;0.237)		Missense_Mutation	74						
C17orf53	0	broad.mit.edu	GRCh37	17	42225478	42225478	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01	TCGA-14-0790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319977.4:c.307C>T	p.Pro103Ser	p.P103S	ENST00000319977	NM_024032.3	103	Cct/Tct	0			1			T	P/S	uc002ifi.1	protein_coding	YES	CCDS11477.1			307/1944										0	c.(307-309)CCT>TCT			hmmpanther:PTHR14523,hmmpanther:PTHR14523:SF1	hypothetical protein LOC78995				ENSP00000313500		10-Mar									COSM3402928	10-Mar	.		ENST00000319977	Transcript						ENSG00000125319	g.chr17:42225478C>T	28460			MODERATE		1.795	low	getma.org/?cm=msa&ty=f&p=CQ053_HUMAN&rb=1&re=229&var=P103S	NA	getma.org/?cm=var&var=hg19,17,42225478,C,T&fts=all	P103S	--	--	1																																		C17orf53_uc010czq.1_Missense_Mutation_p.P103S|C17orf53_uc002ifj.1_Missense_Mutation_p.P103S|C17orf53_uc002ifk.1_RNA	1	1		probably_damaging(1)	p.P103S	NM_024032	NP_076937		tolerated(0.07)	1	CQ053_HUMAN	C17orf53	HGNC	Q8N3J3	CQ053_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)			3	492	+		Breast(137;0.0364)|Prostate(33;0.0376)	UPI0000073E49	103					SNV	C17orf53,missense_variant,p.Pro103Ser,ENST00000319977,NM_024032.3,NM_001171251.1;C17orf53,missense_variant,p.Pro103Ser,ENST00000585683,;C17orf53,missense_variant,p.Pro103Ser,ENST00000245382,;C17orf53,non_coding_transcript_exon_variant,,ENST00000588434,;	uc002ifi.1	c.307C>T	544/2725	2	2			c.307C>T						17	SNP	c.(307-309)CCT>TCT	41	41				0	Broad	hypothetical protein LOC78995			42225478		0.577	ENSG00000125319	1820	g.chr17:42225478C>T										195.001074	KEEP	30	47	-1	56	61	30	47	-1	196.270904	56	61	0.406061	1	0	0	0	0	1	0	0	0	--	--		0	T			C17orf53_uc010czq.1_Missense_Mutation_p.P103S|C17orf53_uc002ifj.1_Missense_Mutation_p.P103S|C17orf53_uc002ifk.1_RNA	137	GBM-14-0790-TP	p.P103S	C	TCCCCTAAGGCCTGTCTCTAC	NM_024032	NP_076937	42225478	Q8N3J3	CQ053_HUMAN	0		BRCA - Breast invasive adenocarcinoma(366;0.114)	3	492	+	T	T		Breast(137;0.0364)|Prostate(33;0.0376)	Missense_Mutation	103						
C17orf70			GRCh37	17	79516305	79516305	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000327787.8:c.1330G>C	p.Ala444Pro	p.A444P	ENST00000327787		444	Gcc/Ccc	0																																																																																																																																																																																																																																												
C17orf77	146723		GRCh37	17	72588368	72588368	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000392620.1:c.183T>G	p.Gly61=	p.G61=	ENST00000392620	NM_152460.2	61	ggT/ggG	0																																																																																																																																																																																																																																												
C18orf21	0	broad.mit.edu	GRCh37	18	33554930	33554930	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01	TCGA-12-3650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000592875.1:c.172C>T	p.Arg58Cys	p.R58C	ENST00000592875	NM_031446.4	58	Cgt/Tgt	0			1			T	R/C	uc002kzc.2	protein_coding	YES	CCDS11916.2			172/663										0	c.(172-174)CGT>TGT			hmmpanther:PTHR31402,hmmpanther:PTHR31402:SF1	chromosome 18 open reading frame 21				ENSP00000465517		5-Mar	1.65E-05			0.000116		1.50E-05			rs779395246,COSM3403530	5-Mar	.		ENST00000592875	Transcript						ENSG00000141428	g.chr18:33554930C>T	28802			MODERATE		2.36	medium	getma.org/?cm=msa&ty=f&p=CR021_HUMAN&rb=1&re=218&var=R58C	NA	getma.org/?cm=var&var=hg19,18,33554930,C,T&fts=all	R58C	--	--	1																																		C18orf21_uc002kzd.2_5'UTR	0,1	1		probably_damaging(0.972)	p.R58C	NM_031446	NP_113634		deleterious(0)	0,1	CR021_HUMAN	C18orf21	HGNC	Q32NC0	CR021_HUMAN			L7N2F3_HUMAN,K7EM84_HUMAN		3	276	+			UPI000059D50B	58					SNV	C18orf21,missense_variant,p.Arg58Cys,ENST00000592875,NM_031446.4;C18orf21,5_prime_UTR_variant,,ENST00000333234,NM_001201475.1,NM_001201474.1;C18orf21,5_prime_UTR_variant,,ENST00000269194,;C18orf21,5_prime_UTR_variant,,ENST00000587873,;C18orf21,downstream_gene_variant,,ENST00000593210,;C18orf21,downstream_gene_variant,,ENST00000587719,;	uc002kzc.2	c.172C>T	818/1581	1	1			c.172C>T						18	SNP	c.(172-174)CGT>TGT	7	7				0	Broad	chromosome 18 open reading frame 21			33554930		0.373	ENSG00000141428	1855	g.chr18:33554930C>T										207.028303	KEEP	30	39	-1	51	45	30	39	-1	207.601729	51	45	0.434211	1	0	0	0	0	1	0	0	0	--	--		0	T			C18orf21_uc002kzd.2_5'UTR	126	GBM-12-3650-TP	p.R58C	C	CTCTCGAGTGCGTCTCAAACC	NM_031446	NP_113634	33554930	Q32NC0	CR021_HUMAN	0			3	276	+	T	T			Missense_Mutation	58						
C18orf8	0	broad.mit.edu	GRCh37	18	21089223	21089223	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269221.3:c.388C>G	p.Gln130Glu	p.Q130E	ENST00000269221	NM_013326.4	130	Caa/Gaa	0			1			G	Q/E	uc010xax.1	protein_coding	YES	CCDS32803.1			388/1974									ovary(1)	1	c.(388-390)CAA>GAA			hmmpanther:PTHR12897,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	colon cancer-associated protein Mic1				ENSP00000269221		20-May									COSM2156087	20-May	.		ENST00000269221	Transcript						ENSG00000141452	g.chr18:21089223C>G	24326			MODERATE		1.95	medium	getma.org/?cm=msa&ty=f&p=MIC1_HUMAN&rb=1&re=200&var=Q130E	NA	getma.org/?cm=var&var=hg19,18,21089223,C,G&fts=all	Q130E	--	--	1																																		C18orf8_uc010xau.1_Translation_Start_Site|C18orf8_uc010xav.1_Intron|C18orf8_uc010xaw.1_Intron|C18orf8_uc002kul.2_RNA	1	1		benign(0.004)	p.Q130E	NM_013326	NP_037458		tolerated(0.22)	1	MIC1_HUMAN	C18orf8	HGNC	Q96DM3	MIC1_HUMAN					5	509	+	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)		UPI000013D80D	130					SNV	C18orf8,missense_variant,p.Gln130Glu,ENST00000269221,NM_013326.4;C18orf8,missense_variant,p.Gln130Glu,ENST00000592119,;C18orf8,intron_variant,,ENST00000590868,NM_001276342.1;NPC1,intron_variant,,ENST00000591107,;C18orf8,missense_variant,p.Gln130Glu,ENST00000590870,;C18orf8,3_prime_UTR_variant,,ENST00000589215,;C18orf8,3_prime_UTR_variant,,ENST00000589860,;C18orf8,3_prime_UTR_variant,,ENST00000587690,;C18orf8,downstream_gene_variant,,ENST00000587153,;	uc010xax.1	c.388C>G	498/2162	3	3			c.388C>G						18	SNP	c.(388-390)CAA>GAA	16	16			ovary(1)	1	Broad	colon cancer-associated protein Mic1			21089223		0.294	ENSG00000141452	1866	g.chr18:21089223C>G										25.789101	KEEP	5	3	-1	13	14	5	3	-1	26.791211	13	14	0.296296	1	0	0	0	0	1	0	0	0	--	--		0	G			C18orf8_uc010xau.1_Translation_Start_Site|C18orf8_uc010xav.1_Intron|C18orf8_uc010xaw.1_Intron|C18orf8_uc002kul.2_RNA	160	GBM-19-1790-TP	p.Q130E	C	CATAACAGATCAAGGAATCGA	NM_013326	NP_037458	21089223	Q96DM3	MIC1_HUMAN	0			5	509	+	G	G	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)		Missense_Mutation	130						
C19orf10	0	broad.mit.edu	GRCh37	19	4668644	4668644	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5218-01	TCGA-28-5218-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262947.3:c.188G>A	p.Cys63Tyr	p.C63Y	ENST00000262947	NM_019107.3	63	tGt/tAt	0			1			T	C/Y	uc002may.2	protein_coding	YES	CCDS12133.1			188/522										0	c.(187-189)TGT>TAT			Pfam_domain:PF10572,hmmpanther:PTHR31230,hmmpanther:PTHR31230:SF1	hypothetical protein LOC56005 precursor				ENSP00000262947		6-Feb	8.24E-06		8.66E-05						rs773946741,COSM3404399	6-Feb	.		ENST00000262947	Transcript				ER-Golgi intermediate compartment|extracellular region		ENSG00000074842	g.chr19:4668644C>T	16948			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=CS010_HUMAN&rb=1&re=173&var=C63Y	NA	getma.org/?cm=var&var=hg19,19,4668644,C,T&fts=all	C63Y	--	--	1																																			0,1	1		probably_damaging(0.999)	p.C63Y	NM_019107	NP_061980		deleterious(0)	0,1	CS010_HUMAN	C19orf10	HGNC	Q969H8	CS010_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015)			2	257	-		Hepatocellular(1079;0.137)	UPI00000711E5	63					SNV	C19orf10,missense_variant,p.Cys63Tyr,ENST00000262947,NM_019107.3;C19orf10,missense_variant,p.Cys63Tyr,ENST00000599630,;C19orf10,upstream_gene_variant,,ENST00000599761,;C19orf10,non_coding_transcript_exon_variant,,ENST00000596031,;	uc002may.2	c.188G>A	224/1018	1	1			c.188G>A						19	SNP	c.(187-189)TGT>TAT	15	15				0	Broad	hypothetical protein LOC56005 precursor			4668644		0.313	ENSG00000074842	1867	g.chr19:4668644C>T		ER-Golgi intermediate compartment|extracellular region								93.892674	KEEP	21	25	-1	30	41	21	25	-1	95.241369	30	41	0.37234	1	0	0	0	0	1	0	0	0	--	--		0	T				224	GBM-28-5218-TP	p.C63Y	C	AGTGAACATACACGTATATTT	NM_019107	NP_061980	4668644	Q969H8	CS010_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015)	2	257	-	T	T		Hepatocellular(1079;0.137)	Missense_Mutation	63						
C19orf18	147685		GRCh37	19	58485726	58485726	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000314391.3:c.75G>A	p.Pro25=	p.P25=	ENST00000314391	NM_152474.4	25	ccG/ccA	0																																																																																																																																																																																																																																												
C19orf35	0	broad.mit.edu	GRCh37	19	2278840	2278840	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01	TCGA-06-6695-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342063.3:c.355G>A	p.Ala119Thr	p.A119T	ENST00000342063	NM_198532.2	119	Gcc/Acc	0	T:0		1			T	A/T	uc002lvn.2	protein_coding	YES	CCDS12087.1			355/1422									pancreas(1)	1	c.(355-357)GCC>ACC			hmmpanther:PTHR22972,hmmpanther:PTHR22972:SF6	hypothetical protein LOC374872			T:0.0002	ENSP00000345102		4-Mar	0.000116		0.000327			0.000356			rs201167235,COSM3404038	4-Mar	.		ENST00000342063	Transcript						ENSG00000188305	g.chr19:2278840C>T	24793			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CS035_HUMAN&rb=1&re=200&var=A119T	NA	getma.org/?cm=var&var=hg19,19,2278840,C,T&fts=all	A119T	--	--	1																																		SPPL2B_uc010dsw.1_Intron	0,1	1		benign(0.008)	p.A119T	NM_198532	NP_940934		tolerated(0.51)	0,1	CS035_HUMAN	C19orf35	HGNC	Q6ZS72	CS035_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)			3	455	-			UPI00001C0E91	119					SNV	C19orf35,missense_variant,p.Ala119Thr,ENST00000342063,NM_198532.2;C19orf35,intron_variant,,ENST00000590316,;	uc002lvn.2	c.355G>A	449/2564	2	2			c.355G>A						19	SNP	c.(355-357)GCC>ACC	46	46			pancreas(1)	1	Broad	hypothetical protein LOC374872			2278840		0.677	ENSG00000188305	1878	g.chr19:2278840C>T										5.515174	KEEP	1	5	-1	7	8	1	5	-1	6.979016	7	8	0.1875	1	0	0	0	0	1	0	0	0	--	--		0	T			SPPL2B_uc010dsw.1_Intron	110	GBM-06-6695-TP	p.A119T	C	CCCAGTGGGGCGTCAGCCGGG	NM_198532	NP_940934	2278840	Q6ZS72	CS035_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	455	-	T	T			Missense_Mutation	119						
C19orf35			GRCh37	19	2278816	2278816	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000342063.3:c.379G>T	p.Asp127Tyr	p.D127Y	ENST00000342063	NM_198532.2	127	Gat/Tat	0																																																																																																																																																																																																																																												
C19orf40	0	broad.mit.edu	GRCh37	19	33464993	33464993	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-5132-01	TCGA-26-5132-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000588258.1:c.271G>A	p.Val91Ile	p.V91I	ENST00000588258	NM_152266.3	91	Gtt/Att	0			1			A	V/I	uc002nud.3	protein_coding	YES	CCDS12426.1			271/648										0	c.(271-273)GTT>ATT		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	hmmpanther:PTHR31786,hmmpanther:PTHR31786:SF1	Fanconi anemia-associated protein, 24 kDa				ENSP00000466121		5-Apr	1.65E-05					3.00E-05			rs562557952,COSM2156946	5-Apr	.		ENST00000588258	Transcript			DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding	ENSG00000131944	g.chr19:33464993G>A	28467			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=FAP24_HUMAN&rb=1&re=161&var=V91I	NA	getma.org/?cm=var&var=hg19,19,33464993,G,A&fts=all	V91I	--	--	1																																		CCDC123_uc002nty.2_5'Flank|CCDC123_uc010edg.2_5'Flank|CCDC123_uc002ntz.1_5'Flank|CCDC123_uc002nua.2_5'Flank|CCDC123_uc002nuc.1_5'Flank	0,1	1		probably_damaging(0.988)	p.V91I	NM_152266	NP_689479		tolerated(0.07)	0,1	FAP24_HUMAN	C19orf40	HGNC	Q9BTP7	FAP24_HUMAN			K7EKQ4_HUMAN		4	389	+	Esophageal squamous(110;0.137)		UPI000007380F	91					SNV	C19orf40,missense_variant,p.Val91Ile,ENST00000588258,NM_152266.3;C19orf40,missense_variant,p.Val91Ile,ENST00000590281,;C19orf40,5_prime_UTR_variant,,ENST00000589646,;C19orf40,5_prime_UTR_variant,,ENST00000590179,;RHPN2,downstream_gene_variant,,ENST00000254260,NM_033103.4;CEP89,upstream_gene_variant,,ENST00000305768,NM_032816.3;CEP89,upstream_gene_variant,,ENST00000590597,;CEP89,upstream_gene_variant,,ENST00000591863,;C19orf40,upstream_gene_variant,,ENST00000591791,;CEP89,upstream_gene_variant,,ENST00000592401,;C19orf40,3_prime_UTR_variant,,ENST00000254262,;RHPN2,downstream_gene_variant,,ENST00000544458,;CEP89,upstream_gene_variant,,ENST00000586984,;CEP89,upstream_gene_variant,,ENST00000591205,;	uc002nud.3	c.271G>A	381/2298	2	2			c.271G>A						19	SNP	c.(271-273)GTT>ATT	32	32				0	Broad	Fanconi anemia-associated protein, 24 kDa	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks		33464993		0.418	ENSG00000131944	1881	g.chr19:33464993G>A	DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding							221.650276	KEEP	43	34	-1	38	36	43	34	-1	221.650276	38	36	0.5	1	0	0	0	0	1	0	0	0	--	--		0	A			CCDC123_uc002nty.2_5'Flank|CCDC123_uc010edg.2_5'Flank|CCDC123_uc002ntz.1_5'Flank|CCDC123_uc002nua.2_5'Flank|CCDC123_uc002nuc.1_5'Flank	181	GBM-26-5132-TP	p.V91I	G	AATTGTAGTCGTTGAAAAAAC	NM_152266	NP_689479	33464993	Q9BTP7	FAP24_HUMAN	0			4	389	+	A	A	Esophageal squamous(110;0.137)		Missense_Mutation	91						
C19orf44	84167	broad.mit.edu	GRCh37	19	16612069	16612069	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01	TCGA-06-0122-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221671.3:c.466C>T	p.Arg156Cys	p.R156C	ENST00000221671	NM_032207.2	156	Cgt/Tgt	0			1			T	R/C	uc002neh.1	protein_coding	YES	CCDS12345.1			466/1974										0	c.(466-468)CGT>TGT			hmmpanther:PTHR22409,hmmpanther:PTHR22409:SF2	hypothetical protein LOC84167				ENSP00000221671		9-Feb	2.47E-05					4.50E-05			rs769700747,COSM2149223	9-Feb	.		ENST00000221671	Transcript						ENSG00000105072	g.chr19:16612069C>T	26141			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CS044_HUMAN&rb=1&re=349&var=R156C	NA	getma.org/?cm=var&var=hg19,19,16612069,C,T&fts=all	R156C	--	--	1																																		MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.R156C|C19orf44_uc002neg.2_Missense_Mutation_p.R156C|C19orf44_uc010eai.1_RNA	0,1	1		benign(0.011)	p.R156C	NM_032207	NP_115583		tolerated(0.21)	0,1	CS044_HUMAN	C19orf44	HGNC	Q9H6X5	CS044_HUMAN			M0R1E2_HUMAN,M0QXR9_HUMAN,B4DN63_HUMAN		2	539	+			UPI0000070DFC	156					SNV	C19orf44,missense_variant,p.Arg156Cys,ENST00000221671,NM_032207.2;C19orf44,missense_variant,p.Arg156Cys,ENST00000594035,NM_001288834.1;C19orf44,downstream_gene_variant,,ENST00000599550,;C19orf44,downstream_gene_variant,,ENST00000594813,;C19orf44,missense_variant,p.Arg156Cys,ENST00000593380,;C19orf44,missense_variant,p.Arg156Cys,ENST00000596592,;CTD-3222D19.2,intron_variant,,ENST00000409035,;	uc002neh.1	c.466C>T	622/3427	2	2			c.466C>T						19	SNP	c.(466-468)CGT>TGT	36	36				0	Broad	hypothetical protein LOC84167			16612069		0.498	ENSG00000105072	1885	g.chr19:16612069C>T										58.937736	KEEP	12	13	-1	49	50	12	13	-1	67.971968	49	50	0.208696	1	0	0	0	0	1	0	0	0	--	--		0	T			MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.R156C|C19orf44_uc002neg.2_Missense_Mutation_p.R156C|C19orf44_uc010eai.1_RNA	10	GBM-06-0122-TP	p.R156C	C	GAATCAAGCCCGTGAACTTCC	NM_032207	NP_115583	16612069	Q9H6X5	CS044_HUMAN	0			2	539	+	T	T			Missense_Mutation	156						
C19orf48	0	broad.mit.edu	GRCh37	19	51301380	51301380	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-28-5207-01	TCGA-28-5207-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345523.4:c.326G>T	p.Arg109Ile	p.R109I	ENST00000345523	NM_199250.1	109	aGa/aTa	0			1			A	R/I	uc002ptf.2	protein_coding		CCDS12803.1			326/354									ovary(1)	1	c.(325-327)AGA>ATA				multidrug resistance-related protein				ENSP00000301419		4-Apr									COSM2157341	4-Apr	.		ENST00000345523	Transcript						ENSG00000167747	g.chr19:51301380C>A	29667			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=CS048_HUMAN&rb=1&re=116&var=R109I	NA	getma.org/?cm=var&var=hg19,19,51301380,C,A&fts=all	R109I	--	--	1																																		C19orf48_uc002pte.2_RNA|C19orf48_uc002ptg.2_Missense_Mutation_p.R109I	1			possibly_damaging(0.506)	p.R109I	NM_199249	NP_954857		tolerated_low_confidence(0.18)	1	CS048_HUMAN	C19orf48	HGNC	Q6RUI8	CS048_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)	M0R3D1_HUMAN,M0R1Y9_HUMAN,M0R1J5_HUMAN,M0QZC8_HUMAN,M0QXL0_HUMAN		5	1248	-		all_neural(266;0.057)	UPI000006ECB0	109					SNV	C19orf48,missense_variant,p.Arg109Ile,ENST00000598463,;C19orf48,missense_variant,p.Arg109Ile,ENST00000345523,NM_199250.1;C19orf48,missense_variant,p.Arg109Ile,ENST00000391812,NM_199249.1;C19orf48,missense_variant,p.Arg109Ile,ENST00000596655,;ACPT,downstream_gene_variant,,ENST00000270593,NM_033068.2;ACPT,downstream_gene_variant,,ENST00000270594,;C19orf48,downstream_gene_variant,,ENST00000597493,;C19orf48,downstream_gene_variant,,ENST00000597705,;C19orf48,downstream_gene_variant,,ENST00000596287,;C19orf48,downstream_gene_variant,,ENST00000601267,;C19orf48,downstream_gene_variant,,ENST00000600373,;C19orf48,downstream_gene_variant,,ENST00000593287,;SNORD88C,downstream_gene_variant,,ENST00000408061,NR_003069.1;SNORD88A,downstream_gene_variant,,ENST00000408314,NR_003067.1;SNORD88B,downstream_gene_variant,,ENST00000408454,NR_003068.1;CTD-2568A17.8,upstream_gene_variant,,ENST00000594114,;C19orf48,downstream_gene_variant,,ENST00000595794,;C19orf48,downstream_gene_variant,,ENST00000599004,;C19orf48,downstream_gene_variant,,ENST00000596554,;C19orf48,downstream_gene_variant,,ENST00000602125,;	uc002ptf.2	c.326G>T	1299/1718	2	2			c.326G>T						19	SNP	c.(325-327)AGA>ATA	24	24			ovary(1)	1	Broad	multidrug resistance-related protein			51301380		0.627	ENSG00000167747	1889	g.chr19:51301380C>A										278.320095	KEEP	59	58	0.495726496	67	102	59	58	0.495726496	280.228829	67	102	0.405738	1	0	0	0	0	1	0	0	0	--	--		0	A			C19orf48_uc002pte.2_RNA|C19orf48_uc002ptg.2_Missense_Mutation_p.R109I	216	GBM-28-5207-TP	p.R109I	C	CCCCAGGATTCTGGCCTGCTT	NM_199249	NP_954857	51301380	Q6RUI8	CS048_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)	5	1248	-	A	A		all_neural(266;0.057)	Missense_Mutation	109						
C19orf54	0	broad.mit.edu	GRCh37	19	41250512	41250512	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0740-01	TCGA-14-0740-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378313.2:c.469C>T	p.Arg157Trp	p.R157W	ENST00000378313	NM_198476.3	157	Cgg/Tgg	0			1			A	R/W	uc002oou.1	protein_coding	YES	CCDS12564.2			469/1056										0	c.(469-471)CGG>TGG				hypothetical protein LOC284325				ENSP00000367564		6-Mar	2.47E-05		8.70E-05			3.03E-05			rs780245332,COSM3226211,COSM3226212	6-Mar	.		ENST00000378313	Transcript						ENSG00000188493	g.chr19:41250512G>A	24758			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=CS054_HUMAN&rb=1&re=200&var=R157W	NA	getma.org/?cm=var&var=hg19,19,41250512,G,A&fts=all	R157W	--	--	1																																		C19orf54_uc002oow.1_Missense_Mutation_p.T26M|C19orf54_uc002oox.1_RNA|C19orf54_uc002ooy.1_Missense_Mutation_p.R19W|C19orf54_uc010xvs.1_RNA	0,1,1	1		possibly_damaging(0.784)	p.R157W	NM_198476	NP_940878		deleterious(0)	0,1,1	CS054_HUMAN	C19orf54	HGNC	Q5BKX5	CS054_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)				3	589	-			UPI00001B64AB	157					SNV	C19orf54,missense_variant,p.Arg157Trp,ENST00000378313,NM_198476.3;C19orf54,missense_variant,p.Arg19Trp,ENST00000470681,;C19orf54,missense_variant,p.Thr26Met,ENST00000598729,;C19orf54,missense_variant,p.Thr26Met,ENST00000339153,;C19orf54,missense_variant,p.Thr26Met,ENST00000598485,;C19orf54,missense_variant,p.Arg91Trp,ENST00000598352,;C19orf54,missense_variant,p.Arg74Trp,ENST00000596940,;ITPKC,downstream_gene_variant,,ENST00000263370,NM_025194.2;C19orf54,downstream_gene_variant,,ENST00000600139,;C19orf54,upstream_gene_variant,,ENST00000594163,;C19orf54,missense_variant,p.Arg19Trp,ENST00000469741,;C19orf54,missense_variant,p.Arg19Trp,ENST00000596809,;C19orf54,missense_variant,p.Arg19Trp,ENST00000597507,;ITPKC,downstream_gene_variant,,ENST00000597003,;	uc002oou.1	c.469C>T	589/2753	2	2			c.469C>T						19	SNP	c.(469-471)CGG>TGG	47	47				0	Broad	hypothetical protein LOC284325			41250512		0.627	ENSG00000188493	1894	g.chr19:41250512G>A										41.38669	KEEP	9	8	-1	17	25	9	8	-1	42.692874	17	25	0.326531	1	0	0	0	0	1	0	0	0	--	--		0	A			C19orf54_uc002oow.1_Missense_Mutation_p.T26M|C19orf54_uc002oox.1_RNA|C19orf54_uc002ooy.1_Missense_Mutation_p.R19W|C19orf54_uc010xvs.1_RNA	132	GBM-14-0740-TP	p.R157W	G	GTGGCCACCCGTATGAGTCTC	NM_198476	NP_940878	41250512	Q5BKX5	CS054_HUMAN	0	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		3	589	-	A	A			Missense_Mutation	157						
C19orf54	0	broad.mit.edu	GRCh37	19	41248416	41248416	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378313.2:c.978C>T	p.Tyr326=	p.Y326=	ENST00000378313	NM_198476.3	326	taC/taT	0	A:0.0002		1			A	Y	uc002oou.1	protein_coding	YES	CCDS12564.2			978/1056										0	c.(976-978)TAC>TAT			Low_complexity_(Seg):seg	hypothetical protein LOC284325			A:0	ENSP00000367564		6-Jun									rs372869249,COSM3404251	6-Jun	.		ENST00000378313	Transcript						ENSG00000188493	g.chr19:41248416G>A	24758			LOW								--	--	1																																		C19orf54_uc002oow.1_Silent_p.Y154Y|C19orf54_uc002oox.1_Intron|C19orf54_uc002ooy.1_Intron|C19orf54_uc010xvs.1_Intron	0,1	1			p.Y326Y	NM_198476	NP_940878			0,1	CS054_HUMAN	C19orf54	HGNC	Q5BKX5	CS054_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)				6	1098	-			UPI00001B64AB	326					SNV	C19orf54,synonymous_variant,p.=,ENST00000378313,NM_198476.3;C19orf54,synonymous_variant,p.=,ENST00000598729,;C19orf54,3_prime_UTR_variant,,ENST00000470681,;C19orf54,intron_variant,,ENST00000339153,;C19orf54,intron_variant,,ENST00000598485,;C19orf54,intron_variant,,ENST00000598352,;C19orf54,intron_variant,,ENST00000596940,;ITPKC,downstream_gene_variant,,ENST00000263370,NM_025194.2;C19orf54,downstream_gene_variant,,ENST00000600139,;C19orf54,upstream_gene_variant,,ENST00000594163,;C19orf54,splice_region_variant,,ENST00000469741,;C19orf54,3_prime_UTR_variant,,ENST00000596809,;C19orf54,intron_variant,,ENST00000597507,;ITPKC,downstream_gene_variant,,ENST00000597003,;	uc002oou.1	c.978C>T	1098/2753	1	1			c.978C>T						19	SNP	c.(976-978)TAC>TAT	55	55				0	Broad	hypothetical protein LOC284325			41248416		0.662	ENSG00000188493	1894	g.chr19:41248416G>A										6.044544	KEEP	0	2	-1	3	5	0	2	-1	6.881263	3	5	0.2	1	0	0	0	0	0	0	1	0	--	--		0	A			C19orf54_uc002oow.1_Silent_p.Y154Y|C19orf54_uc002oox.1_Intron|C19orf54_uc002ooy.1_Intron|C19orf54_uc010xvs.1_Intron	235	GBM-32-2491-TP	p.Y326Y	G	CGGGCACCACGTACACCCGGC	NM_198476	NP_940878	41248416	Q5BKX5	CS054_HUMAN	0	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		6	1098	-	A	A			Silent	326						
C1orf100	200159	broad.mit.edu	GRCh37	1	244528021	244528021	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308105.4:c.19C>T	p.Arg7Ter	p.R7*	ENST00000308105	NM_001012970.2	7	Cga/Tga	0	T:0	T:0	1	T:0		T	R/*	uc001iah.2	protein_coding	YES	CCDS31079.1			19/444										0	c.(19-21)CGA>TGA			hmmpanther:PTHR31763	hypothetical protein LOC200159		T:0	T:0.0001	ENSP00000311218	T:0	5-Feb	3.29E-05					3.00E-05		0.000121	rs200838303,COSM1340787	5-Feb	.		ENST00000308105	Transcript		T:0.0002				ENSG00000173728	g.chr1:244528021C>T	30435			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,244528021,C,T&fts=all	R7*	--	--	1																																		C1orf100_uc001iai.2_Nonsense_Mutation_p.R7*	0,1	1			p.R7*	NM_001012970	NP_001012988	T:0.001		0,1	CA100_HUMAN	C1orf100	HGNC	Q5SVJ3	CA100_HUMAN	all cancers(7;8.19e-08)|GBM - Glioblastoma multiforme(7;2.05e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.000984)				2	132	+	all_cancers(71;3.94e-05)|all_epithelial(71;0.000138)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|all_lung(81;0.0736)|Ovarian(71;0.0761)|Lung NSC(105;0.103)		UPI0000470251	7					SNV	C1orf100,stop_gained,p.Arg7Ter,ENST00000308105,NM_001012970.2;C1orf100,stop_gained,p.Arg7Ter,ENST00000366537,NM_001276348.1;C1orf100,non_coding_transcript_exon_variant,,ENST00000486803,;	uc001iah.2	c.19C>T	132/579	5	1			c.19C>T						1	SNP	c.(19-21)CGA>TGA	2	2				0	Broad	hypothetical protein LOC200159			244528021		0.468	ENSG00000173728	1932	g.chr1:244528021C>T										90.261381	KEEP	18	19	-1	34	35	18	19	-1	92.381761	34	35	0.340426	1	0	0	0	0	0	1	0	0	--	--		0	T			C1orf100_uc001iai.2_Nonsense_Mutation_p.R7*	18	GBM-06-0137-TP	p.R7*	C	CATCCGACTACGAGAATTTAT	NM_001012970	NP_001012988	244528021	Q5SVJ3	CA100_HUMAN	0	all cancers(7;8.19e-08)|GBM - Glioblastoma multiforme(7;2.05e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.000984)		2	132	+	T	T	all_cancers(71;3.94e-05)|all_epithelial(71;0.000138)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|all_lung(81;0.0736)|Ovarian(71;0.0761)|Lung NSC(105;0.103)		Nonsense_Mutation	7						
C1orf110			GRCh37	1	162829260	162829260	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000367910.1:c.177G>T	p.Arg59Ser	p.R59S	ENST00000367910	NM_178550.4	59	agG/agT	0																																																																																																																																																																																																																																												
C1orf112	0	broad.mit.edu	GRCh37	1	169811564	169811564	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01	TCGA-16-1045-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286031.6:c.1732G>A	p.Val578Ile	p.V578I	ENST00000286031	NM_018186.2	578	Gta/Ata	0	C:0.0002		1			A	V/I	uc001ggp.2	protein_coding	YES	CCDS1285.1			1732/2562										0	c.(1732-1734)GTA>ATA			Pfam_domain:PF14868,hmmpanther:PTHR16071,hmmpanther:PTHR16071:SF1	hypothetical protein LOC55732			C:0	ENSP00000286031		18/24	1.65E-05							0.000121	rs376679451,COSM3399974	18/24	.		ENST00000286031	Transcript						ENSG00000000460	g.chr1:169811564G>A	25565			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=CA112_HUMAN&rb=1&re=845&var=V578I	NA	getma.org/?cm=var&var=hg19,1,169811564,G,A&fts=all	V578I	--	--	1																																		C1orf112_uc001ggj.2_RNA|C1orf112_uc001ggq.2_Missense_Mutation_p.V578I|C1orf112_uc009wvt.2_Missense_Mutation_p.V255I|C1orf112_uc009wvu.1_Missense_Mutation_p.V454I|C1orf112_uc001ggr.2_Missense_Mutation_p.V443I|C1orf112_uc010plv.1_Missense_Mutation_p.V520I	0,1	1		benign(0.059)	p.V578I	NM_018186	NP_060656		tolerated(0.08)	0,1	CA112_HUMAN	C1orf112	HGNC	Q9NSG2	CA112_HUMAN					19	2042	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		UPI000006E467	578					SNV	C1orf112,missense_variant,p.Val578Ile,ENST00000286031,NM_018186.2;C1orf112,missense_variant,p.Val578Ile,ENST00000359326,;C1orf112,non_coding_transcript_exon_variant,,ENST00000498289,;C1orf112,non_coding_transcript_exon_variant,,ENST00000459772,;	uc001ggp.2	c.1732G>A	2432/4355	2	2			c.1732G>A						1	SNP	c.(1732-1734)GTA>ATA	21	21				0	Broad	hypothetical protein LOC55732			169811564		0.403	ENSG00000000460	1942	g.chr1:169811564G>A										-4.731629	KEEP	14	11	-1	182	163	14	11	-1	53.269148	182	163	0.073955	1	0	0	0	0	1	0	0	0	--	--		0	A			C1orf112_uc001ggj.2_RNA|C1orf112_uc001ggq.2_Missense_Mutation_p.V578I|C1orf112_uc009wvt.2_Missense_Mutation_p.V255I|C1orf112_uc009wvu.1_Missense_Mutation_p.V454I|C1orf112_uc001ggr.2_Missense_Mutation_p.V443I|C1orf112_uc010plv.1_Missense_Mutation_p.V520I	157	GBM-16-1045-TP	p.V578I	G	TCAGAACACAGTACTGTCTGC	NM_018186	NP_060656	169811564	Q9NSG2	CA112_HUMAN	0			19	2042	+	A	A	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		Missense_Mutation	578						
C1orf116	79098	broad.mit.edu	GRCh37	1	207195575	207195575	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01	TCGA-06-2563-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359470.5:c.1534G>A	p.Gly512Ser	p.G512S	ENST00000359470	NM_023938.5	512	Ggc/Agc	0			1			T	G/S	uc001hfd.2	protein_coding	YES	CCDS1475.1			1534/1806									skin(2)|ovary(1)|central_nervous_system(1)	4	c.(1534-1536)GGC>AGC			Pfam_domain:PF15385,hmmpanther:PTHR21555:SF0,hmmpanther:PTHR21555	specifically androgen-regulated protein isoform				ENSP00000352447		4-Apr	8.24E-06							6.17E-05	rs757897878,COSM2152854	4-Apr	.		ENST00000359470	Transcript				cytoplasm|plasma membrane	receptor activity	ENSG00000182795	g.chr1:207195575C>T	28667			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=SARG_HUMAN&rb=1&re=599&var=G512S	NA	getma.org/?cm=var&var=hg19,1,207195575,C,T&fts=all	G512S	--	--	1																																		C1orf116_uc009xcb.1_Missense_Mutation_p.G266S	0,1	1		benign(0.009)	p.G512S	NM_023938	NP_076427		tolerated(0.98)	0,1	SARG_HUMAN	C1orf116	HGNC	Q9BW04	SARG_HUMAN					4	1793	-	Prostate(682;0.19)		UPI000013E1EF	512					SNV	C1orf116,missense_variant,p.Gly512Ser,ENST00000359470,NM_023938.5;C1orf116,missense_variant,p.Gly266Ser,ENST00000461135,NM_001083924.1;	uc001hfd.2	c.1534G>A	1784/5493	1	1			c.1534G>A						1	SNP	c.(1534-1536)GGC>AGC	5	5			skin(2)|ovary(1)|central_nervous_system(1)	4	Broad	specifically androgen-regulated protein isoform			207195575		0.567	ENSG00000182795	1946	g.chr1:207195575C>T		cytoplasm|plasma membrane	receptor activity							61.549067	KEEP	8	12	-1	7	12	8	12	-1	61.55495	7	12	0.486486	1	0	0	0	0	1	0	0	0	--	--		0	T			C1orf116_uc009xcb.1_Missense_Mutation_p.G266S	86	GBM-06-2563-TP	p.G512S	C	AAGAAGGAGCCCTTTCCCAGA	NM_023938	NP_076427	207195575	Q9BW04	SARG_HUMAN	0			4	1793	-	T	T	Prostate(682;0.19)		Missense_Mutation	512						
C1orf172	0	broad.mit.edu	GRCh37	1	27278819	27278819	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs145806681	byFrequency	TCGA-06-6389-01	TCGA-06-6389-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320567.5:c.53C>T	p.Pro18Leu	p.P18L	ENST00000320567	NM_152365.2	18	cCg/cTg	0	A:0.0016		1			A	P/L	uc001bni.1	protein_coding	YES	CCDS293.1			53/1197									large_intestine(1)|ovary(1)	2	c.(52-54)CCG>CTG				hypothetical protein LOC126695			A:0	ENSP00000319179		4-Feb	0.000128	0.00136				3.33E-05			rs145806681	4-Feb	common_variant		ENST00000320567	Transcript						ENSG00000175707	g.chr1:27278819G>A	26624			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=CA172_HUMAN&rb=1&re=396&var=P18L	NA	getma.org/?cm=var&var=hg19,1,27278819,G,A&fts=all	P18L	--	--	1																																				1		possibly_damaging(0.455)	p.P18L	NM_152365	NP_689578		deleterious_low_confidence(0)		CA172_HUMAN	C1orf172	HGNC	Q8NAX2	CA172_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)			2	142	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	UPI00001408F3	18			Pro-rich.		SNV	C1orf172,missense_variant,p.Pro18Leu,ENST00000320567,NM_152365.2;	uc001bni.1	c.53C>T	142/1793	2	2			c.53C>T						1	SNP	c.(52-54)CCG>CTG	21	21			large_intestine(1)|ovary(1)	2	Broad	hypothetical protein LOC126695			27278819		0.652	ENSG00000175707	1970	g.chr1:27278819G>A										42.83664	KEEP	15	8	-1	60	52	15	8	-1	54.372016	60	52	0.173913	1	0	0	0	0	1	0	0	0	--	--		0	A				105	GBM-06-6389-TP	p.P18L	G	CCGCTCCCACGGTCCCAAGCG	NM_152365	NP_689578	27278819	Q8NAX2	CA172_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)	2	142	-	A	A		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	Missense_Mutation	18			Pro-rich.			
C1orf173	0	broad.mit.edu	GRCh37	1	75108729	75108729	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-2563-01	TCGA-06-2563-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326665.5:c.297G>T	p.Glu99Asp	p.E99D	ENST00000326665	NM_001002912.4	99	gaG/gaT	0			1			A	E/D	uc001dgg.2	protein_coding	YES	CCDS30755.1			297/4593									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5	c.(295-297)GAG>GAT			hmmpanther:PTHR23034	hypothetical protein LOC127254				ENSP00000322609		15-Apr									COSM2152847	15-Apr	.		ENST00000326665	Transcript						ENSG00000178965	g.chr1:75108729C>A	25346			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=CA173_HUMAN&rb=1&re=200&var=E99D	NA	getma.org/?cm=var&var=hg19,1,75108729,C,A&fts=all	E99D	--	--	1																																			1	1		possibly_damaging(0.894)	p.E99D	NM_001002912	NP_001002912		deleterious(0.01)	1	CA173_HUMAN	C1orf173	HGNC	Q5RHP9	CA173_HUMAN					4	516	-			UPI0000237200	99					SNV	C1orf173,missense_variant,p.Glu99Asp,ENST00000326665,NM_001002912.4;	uc001dgg.2	c.297G>T	516/7159	2	2			c.297G>T						1	SNP	c.(295-297)GAG>GAT	33	33			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5	Broad	hypothetical protein LOC127254			75108729		0.323	ENSG00000178965	1971	g.chr1:75108729C>A										166.718663	KEEP	22	39	0.639344262	49	51	22	39	0.639344262	168.062864	49	51	0.394161	1	0	0	0	0	1	0	0	0	--	--		0	A				86	GBM-06-2563-TP	p.E99D	C	TCTGGATTCGCTCCTTCCTAG	NM_001002912	NP_001002912	75108729	Q5RHP9	CA173_HUMAN	0			4	516	-	A	A			Missense_Mutation	99						
C1orf173	0	broad.mit.edu	GRCh37	1	75038513	75038513	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-12-1597-01	TCGA-12-1597-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326665.5:c.2881G>C	p.Asp961His	p.D961H	ENST00000326665	NM_001002912.4	961	Gac/Cac	0			1			G	D/H	uc001dgg.2	protein_coding	YES	CCDS30755.1			2881/4593									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5	c.(2881-2883)GAC>CAC			hmmpanther:PTHR23034	hypothetical protein LOC127254				ENSP00000322609		14/15	8.24E-06							6.06E-05	rs757938854,COSM3400994	14/15	.		ENST00000326665	Transcript						ENSG00000178965	g.chr1:75038513C>G	25346			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=CA173_HUMAN&rb=411&re=1274&var=D961H	NA	getma.org/?cm=var&var=hg19,1,75038513,C,G&fts=all	D961H	--	--	1																																			0,1	1		benign(0.091)	p.D961H	NM_001002912	NP_001002912		deleterious(0.02)	0,1	CA173_HUMAN	C1orf173	HGNC	Q5RHP9	CA173_HUMAN					14	3100	-			UPI0000237200	961			Glu-rich.		SNV	C1orf173,missense_variant,p.Asp961His,ENST00000326665,NM_001002912.4;C1orf173,non_coding_transcript_exon_variant,,ENST00000433746,;	uc001dgg.2	c.2881G>C	3100/7159	3	3			c.2881G>C						1	SNP	c.(2881-2883)GAC>CAC	59	59			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5	Broad	hypothetical protein LOC127254			75038513		0.522	ENSG00000178965	1971	g.chr1:75038513C>G										16.333532	KEEP	6	8	-1	82	68	6	8	-1	41.534311	82	68	0.092715	1	0	0	0	0	1	0	0	0	--	--		0	G				124	GBM-12-1597-TP	p.D961H	C	GATGCTGTGTCCTCCATGGGT	NM_001002912	NP_001002912	75038513	Q5RHP9	CA173_HUMAN	0			14	3100	-	G	G			Missense_Mutation	961			Glu-rich.			
C1orf173	0	broad.mit.edu	GRCh37	1	75055650	75055650	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-12-1597-01	TCGA-12-1597-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326665.5:c.1841G>T	p.Ser614Ile	p.S614I	ENST00000326665	NM_001002912.4	614	aGt/aTt	0			1			A	S/I	uc001dgg.2	protein_coding	YES	CCDS30755.1			1841/4593									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5	c.(1840-1842)AGT>ATT			hmmpanther:PTHR23034,Low_complexity_(Seg):seg	hypothetical protein LOC127254				ENSP00000322609		15-Dec									COSM3400997	15-Dec	.		ENST00000326665	Transcript						ENSG00000178965	g.chr1:75055650C>A	25346			MODERATE		1.65	low	getma.org/?cm=msa&ty=f&p=CA173_HUMAN&rb=411&re=1274&var=S614I	NA	getma.org/?cm=var&var=hg19,1,75055650,C,A&fts=all	S614I	--	--	1																																		uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.S408I	1	1		possibly_damaging(0.897)	p.S614I	NM_001002912	NP_001002912		deleterious(0)	1	CA173_HUMAN	C1orf173	HGNC	Q5RHP9	CA173_HUMAN					12	2060	-			UPI0000237200	614			Glu-rich.		SNV	C1orf173,missense_variant,p.Ser614Ile,ENST00000326665,NM_001002912.4;C1orf173,missense_variant,p.Ser417Ile,ENST00000420661,;RP4-612J11.1,intron_variant,,ENST00000416017,;	uc001dgg.2	c.1841G>T	2060/7159	2	2			c.1841G>T						1	SNP	c.(1840-1842)AGT>ATT	42	42			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5	Broad	hypothetical protein LOC127254			75055650		0.448	ENSG00000178965	1971	g.chr1:75055650C>A										146.741897	KEEP	31	27	0.465517241	61	41	31	27	0.465517241	149.746053	61	41	0.348993	1	0	0	0	0	1	0	0	0	--	--		0	A			uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.S408I	124	GBM-12-1597-TP	p.S614I	C	CCTTCTGGCACTTTCATCTGT	NM_001002912	NP_001002912	75055650	Q5RHP9	CA173_HUMAN	0			12	2060	-	A	A			Missense_Mutation	614			Glu-rich.			
C1orf173	0	broad.mit.edu	GRCh37	1	75055329	75055329	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-2554-01	TCGA-14-2554-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326665.5:c.2162G>T	p.Gly721Val	p.G721V	ENST00000326665	NM_001002912.4	721	gGg/gTg	0			1			A	G/V	uc001dgg.2	protein_coding	YES	CCDS30755.1			2162/4593									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5	c.(2161-2163)GGG>GTG			hmmpanther:PTHR23034	hypothetical protein LOC127254				ENSP00000322609		15-Dec									rs772215438,COSM3400996	15-Dec	.		ENST00000326665	Transcript						ENSG00000178965	g.chr1:75055329C>A	25346			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=CA173_HUMAN&rb=411&re=1274&var=G721V	NA	getma.org/?cm=var&var=hg19,1,75055329,C,A&fts=all	G721V	--	--	1																																		uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.G515V	0,1	1		possibly_damaging(0.854)	p.G721V	NM_001002912	NP_001002912		tolerated(0.13)	0,1	CA173_HUMAN	C1orf173	HGNC	Q5RHP9	CA173_HUMAN					12	2381	-			UPI0000237200	721			Glu-rich.		SNV	C1orf173,missense_variant,p.Gly721Val,ENST00000326665,NM_001002912.4;C1orf173,missense_variant,p.Gly524Val,ENST00000420661,;RP4-612J11.1,upstream_gene_variant,,ENST00000416017,;	uc001dgg.2	c.2162G>T	2381/7159	2	2			c.2162G>T						1	SNP	c.(2161-2163)GGG>GTG	34	34			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5	Broad	hypothetical protein LOC127254			75055329		0.473	ENSG00000178965	1971	g.chr1:75055329C>A										-22.157959	KEEP	18	34	0.653846154	305	344	18	34	0.653846154	87.597551	305	344	0.070934	1	0	0	0	0	1	0	0	0	--	--		0	A			uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.G515V	150	GBM-14-2554-TP	p.G721V	C	TTCCTCCAACCCAGGGAGACC	NM_001002912	NP_001002912	75055329	Q5RHP9	CA173_HUMAN	0			12	2381	-	A	A			Missense_Mutation	721			Glu-rich.			
C1orf173	0	broad.mit.edu	GRCh37	1	75037396	75037396	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01	TCGA-19-5955-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326665.5:c.3998G>A	p.Gly1333Glu	p.G1333E	ENST00000326665	NM_001002912.4	1333	gGa/gAa	0			1			T	G/E	uc001dgg.2	protein_coding	YES	CCDS30755.1			3998/4593									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5	c.(3997-3999)GGA>GAA			hmmpanther:PTHR23034	hypothetical protein LOC127254				ENSP00000322609		14/15									COSM2156789	14/15	.		ENST00000326665	Transcript						ENSG00000178965	g.chr1:75037396C>T	25346			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=CA173_HUMAN&rb=1276&re=1528&var=G1333E	NA	getma.org/?cm=var&var=hg19,1,75037396,C,T&fts=all	G1333E	--	--	1																																			1	1		benign(0.011)	p.G1333E	NM_001002912	NP_001002912		tolerated(0.09)	1	CA173_HUMAN	C1orf173	HGNC	Q5RHP9	CA173_HUMAN					14	4217	-			UPI0000237200	1333			Glu-rich.		SNV	C1orf173,missense_variant,p.Gly1333Glu,ENST00000326665,NM_001002912.4;C1orf173,non_coding_transcript_exon_variant,,ENST00000433746,;	uc001dgg.2	c.3998G>A	4217/7159	1	1			c.3998G>A						1	SNP	c.(3997-3999)GGA>GAA	15	15			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5	Broad	hypothetical protein LOC127254			75037396		0.562	ENSG00000178965	1971	g.chr1:75037396C>T										66.732402	KEEP	15	11	-1	37	34	15	11	-1	71.551368	37	34	0.263158	1	0	0	0	0	1	0	0	0	--	--		0	T				175	GBM-19-5955-TP	p.G1333E	C	CCTTCCTCCTCCCATGCCCTC	NM_001002912	NP_001002912	75037396	Q5RHP9	CA173_HUMAN	0			14	4217	-	T	T			Missense_Mutation	1333			Glu-rich.			
C1orf173	0	broad.mit.edu	GRCh37	1	75038917	75038917	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-4935-01	TCGA-76-4935-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326665.5:c.2477C>G	p.Thr826Arg	p.T826R	ENST00000326665	NM_001002912.4	826	aCa/aGa	0			1			C	T/R	uc001dgg.2	protein_coding	YES	CCDS30755.1			2477/4593									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5	c.(2476-2478)ACA>AGA			hmmpanther:PTHR23034	hypothetical protein LOC127254				ENSP00000322609		14/15									COSM3400995	14/15	.		ENST00000326665	Transcript						ENSG00000178965	g.chr1:75038917G>C	25346			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CA173_HUMAN&rb=411&re=1274&var=T826R	NA	getma.org/?cm=var&var=hg19,1,75038917,G,C&fts=all	T826R	--	--	1																																			1	1		benign(0.075)	p.T826R	NM_001002912	NP_001002912		tolerated(0.18)	1	CA173_HUMAN	C1orf173	HGNC	Q5RHP9	CA173_HUMAN					14	2696	-			UPI0000237200	826			Glu-rich.		SNV	C1orf173,missense_variant,p.Thr826Arg,ENST00000326665,NM_001002912.4;C1orf173,non_coding_transcript_exon_variant,,ENST00000433746,;	uc001dgg.2	c.2477C>G	2696/7159	4	4			c.2477C>G						1	SNP	c.(2476-2478)ACA>AGA	36	36			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5	Broad	hypothetical protein LOC127254			75038917		0.582	ENSG00000178965	1971	g.chr1:75038917G>C										323.070705	KEEP	54	50	-1	73	68	54	50	-1	324.005167	73	68	0.429907	1	0	0	0	0	1	0	0	0	--	--		0	C				273	GBM-76-4935-TP	p.T826R	G	CCTTTTTTCTGTAAACTCTTC	NM_001002912	NP_001002912	75038917	Q5RHP9	CA173_HUMAN	0			14	2696	-	C	C			Missense_Mutation	826			Glu-rich.			
C1orf177	0	broad.mit.edu	GRCh37	1	55280638	55280638	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0882-01	TCGA-06-0882-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371273.3:c.976G>A	p.Val326Ile	p.V326I	ENST00000371273	NM_001110533.1	326	Gtc/Atc	0	A:0		1			A	V/I	uc001cyb.3	protein_coding	YES	CCDS44153.1			976/1257										0	c.(976-978)GTC>ATC				hypothetical protein LOC163747 isoform 2			A:0.0001	ENSP00000360320		10-Aug									rs201728919,COSM2152377	10-Aug	.		ENST00000371273	Transcript						ENSG00000162398	g.chr1:55280638G>A	26854			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=CA177_HUMAN&rb=20&re=393&var=V326I	NA	getma.org/?cm=var&var=hg19,1,55280638,G,A&fts=all	V326I	--	--	1																																		C1orf177_uc001cya.3_Missense_Mutation_p.V326I	0,1	1		benign(0.014)	p.V326I	NM_001110533	NP_001104003		tolerated(0.36)	0,1	CA177_HUMAN	C1orf177	HGNC	Q3ZCV2	CA177_HUMAN					8	1030	+			UPI0000204405	326					SNV	C1orf177,missense_variant,p.Val326Ile,ENST00000358193,NM_152607.2;C1orf177,missense_variant,p.Val326Ile,ENST00000371273,NM_001110533.1;	uc001cyb.3	c.976G>A	991/1651	1	1			c.976G>A						1	SNP	c.(976-978)GTC>ATC	52	52				0	Broad	hypothetical protein LOC163747 isoform 2			55280638		0.552	ENSG00000162398	1974	g.chr1:55280638G>A										116.334723	KEEP	30	24	-1	72	71	30	24	-1	125.177798	72	71	0.266667	1	0	0	0	0	1	0	0	0	--	--		0	A			C1orf177_uc001cya.3_Missense_Mutation_p.V326I	77	GBM-06-0882-TP	p.V326I	G	ATGCAAACCCGTCAACCAGCC	NM_001110533	NP_001104003	55280638	Q3ZCV2	CA177_HUMAN	0			8	1030	+	A	A			Missense_Mutation	326						
C1orf177	0	broad.mit.edu	GRCh37	1	55277777	55277777	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-0789-01	TCGA-14-0789-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371273.3:c.677C>A	p.Ala226Glu	p.A226E	ENST00000371273	NM_001110533.1	226	gCa/gAa	0			1			A	A/E	uc001cyb.3	protein_coding	YES	CCDS44153.1			677/1257										0	c.(676-678)GCA>GAA				hypothetical protein LOC163747 isoform 2				ENSP00000360320		10-Jun									COSM3400898	10-Jun	.		ENST00000371273	Transcript						ENSG00000162398	g.chr1:55277777C>A	26854			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=CA177_HUMAN&rb=20&re=393&var=A226E	NA	getma.org/?cm=var&var=hg19,1,55277777,C,A&fts=all	A226E	--	--	1																																		C1orf177_uc001cya.3_Missense_Mutation_p.A226E	1	1		benign(0.048)	p.A226E	NM_001110533	NP_001104003		tolerated(0.38)	1	CA177_HUMAN	C1orf177	HGNC	Q3ZCV2	CA177_HUMAN					6	731	+			UPI0000204405	226					SNV	C1orf177,missense_variant,p.Ala226Glu,ENST00000358193,NM_152607.2;C1orf177,missense_variant,p.Ala226Glu,ENST00000371273,NM_001110533.1;	uc001cyb.3	c.677C>A	692/1651	2	2			c.677C>A						1	SNP	c.(676-678)GCA>GAA	27	27				0	Broad	hypothetical protein LOC163747 isoform 2			55277777		0.592	ENSG00000162398	1974	g.chr1:55277777C>A										-55.128265	KEEP	3	2	0.4	121	133	3	2	0.4	7.431177	121	133	0.020576	1	0	0	0	0	1	0	0	0	--	--		0	A			C1orf177_uc001cya.3_Missense_Mutation_p.A226E	136	GBM-14-0789-TP	p.A226E	C	ACATATGTGGCACGATCCGTC	NM_001110533	NP_001104003	55277777	Q3ZCV2	CA177_HUMAN	0			6	731	+	A	A			Missense_Mutation	226						
C1orf177	0	broad.mit.edu	GRCh37	1	55273665	55273665	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371273.3:c.461G>A	p.Arg154His	p.R154H	ENST00000371273	NM_001110533.1	154	cGc/cAc	0			1			A	R/H	uc001cyb.3	protein_coding	YES	CCDS44153.1			461/1257										0	c.(460-462)CGC>CAC				hypothetical protein LOC163747 isoform 2				ENSP00000360320		10-Apr									COSM3400897	10-Apr	.		ENST00000371273	Transcript						ENSG00000162398	g.chr1:55273665G>A	26854			MODERATE		2.135	medium	getma.org/?cm=msa&ty=f&p=CA177_HUMAN&rb=20&re=393&var=R154H	NA	getma.org/?cm=var&var=hg19,1,55273665,G,A&fts=all	R154H	--	--	1																																		C1orf177_uc001cya.3_Missense_Mutation_p.R154H	1	1		probably_damaging(0.991)	p.R154H	NM_001110533	NP_001104003		deleterious(0)	1	CA177_HUMAN	C1orf177	HGNC	Q3ZCV2	CA177_HUMAN					4	515	+			UPI0000204405	154					SNV	C1orf177,missense_variant,p.Arg154His,ENST00000358193,NM_152607.2;C1orf177,missense_variant,p.Arg154His,ENST00000371273,NM_001110533.1;	uc001cyb.3	c.461G>A	476/1651	2	2			c.461G>A						1	SNP	c.(460-462)CGC>CAC	17	17				0	Broad	hypothetical protein LOC163747 isoform 2			55273665		0.413	ENSG00000162398	1974	g.chr1:55273665G>A										126.558963	KEEP	24	33	-1	88	94	24	33	-1	138.793738	88	94	0.248826	1	0	0	0	0	1	0	0	0	--	--		0	A			C1orf177_uc001cya.3_Missense_Mutation_p.R154H	220	GBM-28-5213-TP	p.R154H	G	GGGGAGGTTCGCTTCCGAGGA	NM_001110533	NP_001104003	55273665	Q3ZCV2	CA177_HUMAN	0			4	515	+	A	A			Missense_Mutation	154						
C1orf222	0	broad.mit.edu	GRCh37	1	1896365	1896365	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01	TCGA-06-0686-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000604159.1:c.292C>T	p.Arg98Cys	p.R98C	ENST00000604159	NM_001080484.1	98	Cgc/Tgc	0			1			A	R/C	uc001aim.1	protein_coding					292/516									pancreas(1)	1	c.(1537-1539)CGC>TGC			hmmpanther:PTHR22538	hypothetical protein LOC85452				ENSP00000473959		4-Feb	4.13E-05			0.000582					rs766114699,COSM2123574	4-Feb	common_variant		ENST00000604159	Transcript						ENSG00000142609	g.chr1:1896365G>A	27917			MODERATE		0.845	low	getma.org/?cm=msa&ty=f&p=K1751_HUMAN&rb=51&re=759&var=R513C	NA	getma.org/?cm=var&var=hg19,1,1896365,G,A&fts=all	R513C	--	--	1																																		KIAA1751_uc009vkz.1_Missense_Mutation_p.R513C	0,1	1		benign(0.014)	p.R513C	NM_001080484	NP_001073953		tolerated(0.06)	0,1	K1751_HUMAN	C1orf222	HGNC	Q9C0B2	K1751_HUMAN		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	S4R361_HUMAN		13	1693	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	UPI000333519F	513					SNV	C1orf222,missense_variant,p.Arg98Cys,ENST00000604159,NM_001080484.1;C1orf222,upstream_gene_variant,,ENST00000493316,;C1orf222,upstream_gene_variant,,ENST00000461752,;C1orf222,non_coding_transcript_exon_variant,,ENST00000270720,;C1orf222,non_coding_transcript_exon_variant,,ENST00000468610,;	uc001aim.1	c.1537C>T	292/516	2	2			c.1537C>T						1	SNP	c.(1537-1539)CGC>TGC	39	39			pancreas(1)	1	Broad	hypothetical protein LOC85452			1896365		0.662	ENSG00000142609	8117	g.chr1:1896365G>A										79.746366	KEEP	16	12	-1	27	11	16	12	-1	79.762476	27	11	0.481481	1	0	0	0	0	1	0	0	0	--	--		0	A			KIAA1751_uc009vkz.1_Missense_Mutation_p.R513C	64	GBM-06-0686-TP	p.R513C	G	TTGAAGGGGCGTCCTTGGAAC	NM_001080484	NP_001073953	1896365	Q9C0B2	K1751_HUMAN	0		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	13	1693	-	A	A	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	Missense_Mutation	513						
C1orf222	0	broad.mit.edu	GRCh37	1	1918455	1918455	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A			TCGA-06-5413-01	TCGA-06-5413-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000270720.7:n.472C>T		p.*158*	ENST00000270720				0			1			A		uc001aim.1	protein_coding					-/279									pancreas(1)	1	c.(316-318)CGG>TGG	946			hypothetical protein LOC85452				ENSP00000367853			2.48E-05	0.000104	8.66E-05	0.000117					rs772880951,COSM3400130		.		ENST00000378590	Transcript						ENSG00000142609	g.chr1:1918455G>A	27917			MODIFIER		1.87	low	getma.org/?cm=msa&ty=f&p=K1751_HUMAN&rb=51&re=759&var=R106W	NA	getma.org/?cm=var&var=hg19,1,1918455,G,A&fts=all	R106W	--	--	1																																		KIAA1751_uc009vkz.1_Missense_Mutation_p.R106W|KIAA1751_uc001ain.1_Missense_Mutation_p.R106W	0,1	1			p.R106W	NM_001080484	NP_001073953			0,1		C1orf222	HGNC	Q9C0B2	K1751_HUMAN		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	Q5T2D8_HUMAN		5	472	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	UPI0000205CA6	106					SNV	C1orf222,downstream_gene_variant,,ENST00000378590,;C1orf222,downstream_gene_variant,,ENST00000434971,;C1orf222,non_coding_transcript_exon_variant,,ENST00000270720,;C1orf222,non_coding_transcript_exon_variant,,ENST00000468610,;C1orf222,non_coding_transcript_exon_variant,,ENST00000378592,;	uc001aim.1	c.316C>T	-/441	2	2			c.316C>T						1	SNP	c.(316-318)CGG>TGG	27	27			pancreas(1)	1	Broad	hypothetical protein LOC85452			1918455		0.632	ENSG00000142609	8117	g.chr1:1918455G>A										138.165532	KEEP	32	47	-1	62	51	32	47	-1	138.885617	62	51	0.412844	1	0	0	0	0	1	0	0	0	--	--		0	A			KIAA1751_uc009vkz.1_Missense_Mutation_p.R106W|KIAA1751_uc001ain.1_Missense_Mutation_p.R106W	96	GBM-06-5413-TP	p.R106W	G	CGCCTCTGCCGACAGGCGCGC	NM_001080484	NP_001073953	1918455	Q9C0B2	K1751_HUMAN	0		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	5	472	-	A	A	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	Missense_Mutation	106						
C1orf222	0	broad.mit.edu	GRCh37	1	1900084	1900084	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	rs150108692	by1000genomes	TCGA-12-3653-01	TCGA-12-3653-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000270720.7:n.1391C>T		*464*	ENST00000270720				0	A:0	A:0	1	A:0		A		uc001aim.1	protein_coding					-/516									pancreas(1)	1	c.(1234-1236)ACG>ATG	2119			hypothetical protein LOC85452		A:0.002	A:0.0002	ENSP00000473959	A:0		0.000124	0.000102	0.000259	0.000464		4.51E-05	0.00111	0.000184	rs150108692,COSM3400125		common_variant		ENST00000604159	Transcript		A:0.0004				ENSG00000142609	g.chr1:1900084G>A	27917			MODIFIER		0	neutral	getma.org/?cm=msa&ty=f&p=K1751_HUMAN&rb=51&re=759&var=T412M	NA	getma.org/?cm=var&var=hg19,1,1900084,G,A&fts=all	T412M	--	--	1																																		KIAA1751_uc009vkz.1_Missense_Mutation_p.T412M	0,1	1			p.T412M	NM_001080484	NP_001073953	A:0		0,1	K1751_HUMAN	C1orf222	HGNC	Q9C0B2	K1751_HUMAN		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	S4R361_HUMAN		11	1391	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	UPI000333519F	412					SNV	C1orf222,upstream_gene_variant,,ENST00000604159,NM_001080484.1;C1orf222,non_coding_transcript_exon_variant,,ENST00000270720,;C1orf222,non_coding_transcript_exon_variant,,ENST00000468610,;	uc001aim.1	c.1235C>T	-/516	2	2			c.1235C>T						1	SNP	c.(1234-1236)ACG>ATG	46	46			pancreas(1)	1	Broad	hypothetical protein LOC85452			1900084		0.582	ENSG00000142609	8117	g.chr1:1900084G>A										263.560781	KEEP	56	43	-1	73	58	56	43	-1	264.23885	73	58	0.437811	1	0	0	0	0	1	0	0	0	--	--		0	A			KIAA1751_uc009vkz.1_Missense_Mutation_p.T412M	128	GBM-12-3653-TP	p.T412M	G	CAGTGTGTACGTGTTGGTTGG	NM_001080484	NP_001073953	1900084	Q9C0B2	K1751_HUMAN	0		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	11	1391	-	A	A	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	Missense_Mutation	412						
C1orf222			GRCh37	1	1902133	1902133	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000270720.7:n.1167C>T		p.*389*	ENST00000270720				0																																																																																																																																																																																																																																												
C1orf222			GRCh37	1	1900265	1900265	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000270720.7:n.1210G>C		p.*404*	ENST00000270720				0																																																																																																																																																																																																																																												
C1orf85	0	broad.mit.edu	GRCh37	1	156264001	156264001	+	synonymous_variant	Silent	SNP	T	T	A			TCGA-06-6391-01	TCGA-06-6391-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000362007.1:c.606A>T	p.Arg202=	p.R202=	ENST00000362007	NM_001256609.1	202	cgA/cgT	0			1			A	R	uc001foh.2	protein_coding	YES	CCDS1139.1			606/1221									ovary(2)	2	c.(604-606)CGA>CGT			Pfam_domain:PF15065,hmmpanther:PTHR31981,hmmpanther:PTHR31981:SF1	kidney predominant protein NCU-G1 precursor				ENSP00000354553		6-Apr										6-Apr	.		ENST00000362007	Transcript			positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	ENSG00000198715	g.chr1:156264001T>A	29436			LOW								--	--	1																																		C1orf85_uc001fof.3_5'Flank|C1orf85_uc001fog.1_Intron|C1orf85_uc001foi.2_Silent_p.R202R|C1orf85_uc009wrx.2_Silent_p.R135R|C1orf85_uc001foj.2_Silent_p.R116R		1			p.R202R	NM_144580	NP_653181				NCUG1_HUMAN	C1orf85	HGNC	Q8WWB7	NCUG1_HUMAN					4	619	-	Hepatocellular(266;0.158)		UPI00000361F7	202			Lumenal (Potential).		SNV	C1orf85,synonymous_variant,p.=,ENST00000362007,NM_001256609.1,NM_144580.2,NM_001256604.1;TMEM79,downstream_gene_variant,,ENST00000405535,NM_032323.2;TMEM79,downstream_gene_variant,,ENST00000295694,;VHLL,downstream_gene_variant,,ENST00000339922,NM_001004319.2;TMEM79,downstream_gene_variant,,ENST00000357501,;C1orf85,upstream_gene_variant,,ENST00000481050,;TMEM79,downstream_gene_variant,,ENST00000456810,;TMEM79,downstream_gene_variant,,ENST00000495881,;TMEM79,downstream_gene_variant,,ENST00000463670,;TMEM79,downstream_gene_variant,,ENST00000485135,;C1orf85,upstream_gene_variant,,ENST00000482579,;C1orf85,upstream_gene_variant,,ENST00000497831,;C1orf85,upstream_gene_variant,,ENST00000480968,;C1orf85,synonymous_variant,p.=,ENST00000368264,;C1orf85,3_prime_UTR_variant,,ENST00000476177,;C1orf85,non_coding_transcript_exon_variant,,ENST00000497955,;C1orf85,non_coding_transcript_exon_variant,,ENST00000484214,;C1orf85,non_coding_transcript_exon_variant,,ENST00000479084,;C1orf85,intron_variant,,ENST00000472870,;C1orf85,upstream_gene_variant,,ENST00000461597,;	uc001foh.2	c.606A>T	633/1604	2	2			c.606A>T						1	SNP	c.(604-606)CGA>CGT	29	29			ovary(2)	2	Broad	kidney predominant protein NCU-G1 precursor			156264001		0.592	ENSG00000198715	2019	g.chr1:156264001T>A	positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding							7.63772	KEEP	5	2	-1	20	29	5	2	-1	14.700764	20	29	0.12	1	0	0	0	0	0	0	1	0	--	--		0	A			C1orf85_uc001fof.3_5'Flank|C1orf85_uc001fog.1_Intron|C1orf85_uc001foi.2_Silent_p.R202R|C1orf85_uc009wrx.2_Silent_p.R135R|C1orf85_uc001foj.2_Silent_p.R116R	107	GBM-06-6391-TP	p.R202R	T	GTTGGGCTGGTCGGCTGGACC	NM_144580	NP_653181	156264001	Q8WWB7	NCUG1_HUMAN	0			4	619	-	A	A	Hepatocellular(266;0.158)		Silent	202			Lumenal (Potential).			
C1orf86			GRCh37	1	2125232	2125232	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000378546.4:c.316G>A	p.Gly106Arg	p.G106R	ENST00000378546	NM_182533.2	106	Ggg/Agg	0																																																																																																																																																																																																																																												
C1QC	0	broad.mit.edu	GRCh37	1	22973963	22973963	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01	TCGA-28-2502-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374637.1:c.425C>T	p.Ala142Val	p.A142V	ENST00000374637		142	gCg/gTg	0			1			T	A/V	uc001bgc.3	protein_coding		CCDS227.1			425/738										0	c.(424-426)GCG>GTG			PROSITE_profiles:PS50871,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF17,Gene3D:2.60.120.40,Pfam_domain:PF00386,SMART_domains:SM00110,Superfamily_domains:SSF49842,Prints_domain:PR00007	complement component 1, q subcomponent, C chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)			ENSP00000363768		3-Mar	8.24E-06		8.64E-05						rs769724909,COSM3400451	3-Mar	.		ENST00000374637	Transcript	1		complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen		ENSG00000159189	g.chr1:22973963C>T	1245			MODERATE		-1.04	neutral	getma.org/?cm=msa&ty=f&p=C1QC_HUMAN&rb=121&re=242&var=A142V	getma.org/pdb.php?prot=C1QC_HUMAN&from=121&to=242&var=A142V	getma.org/?cm=var&var=hg19,1,22973963,C,T&fts=all	A142V	--	--	1																																		C1QC_uc001bga.3_Missense_Mutation_p.A142V|C1QC_uc001bgb.2_Missense_Mutation_p.A142V	0,1			benign(0.006)	p.A142V	NM_172369	NP_758957		tolerated(0.09)	0,1	C1QC_HUMAN	C1QC	HGNC	P02747	C1QC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)			3	528	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	UPI0000126BF3	142			C1q.		SNV	C1QC,missense_variant,p.Ala142Val,ENST00000374639,NM_001114101.1;C1QC,missense_variant,p.Ala142Val,ENST00000374640,NM_172369.3;C1QC,missense_variant,p.Ala142Val,ENST00000374637,;	uc001bgc.3	c.425C>T	672/1089	1	1			c.425C>T						1	SNP	c.(424-426)GCG>GTG	2	2				0	Broad	complement component 1, q subcomponent, C chain		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	22973963		0.567	ENSG00000159189	1914	g.chr1:22973963C>T	complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen		Ovarian(26;671 750 8290 29071 43278)			Ovarian(26;671 750 8290 29071 43278)			57.449918	KEEP	13	12	-1	30	55	13	12	-1	63.470987	30	55	0.245098	1	0	0	0	0	1	0	0	0	--	--		0	T			C1QC_uc001bga.3_Missense_Mutation_p.A142V|C1QC_uc001bgb.2_Missense_Mutation_p.A142V	210	GBM-28-2502-TP	p.A142V	C	AGATTCAACGCGGTCCTCACC	NM_172369	NP_758957	22973963	P02747	C1QC_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	3	528	+	T	T		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	142			C1q.			
C1QTNF1	0	broad.mit.edu	GRCh37	17	77043872	77043872	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1986-01	TCGA-32-1986-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339142.2:c.548G>A	p.Gly183Asp	p.G183D	ENST00000339142	NM_198593.3	183	gGc/gAc	0			1			A	G/D	uc002jwp.2	protein_coding	YES	CCDS11761.1			548/846									ovary(1)	1	c.(547-549)GGC>GAC			Gene3D:2.60.120.40,Pfam_domain:PF00386,Prints_domain:PR00007,PROSITE_profiles:PS50871,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF10,SMART_domains:SM00110,Superfamily_domains:SSF49842	C1q and tumor necrosis factor related protein 1				ENSP00000340864		5-May									COSM3403328,COSM3403327,COSM3403329	5-May	.		ENST00000339142	Transcript				collagen		ENSG00000173918	g.chr17:77043872G>A	14324			MODERATE		3.99	high	getma.org/?cm=msa&ty=f&p=C1QT1_HUMAN&rb=147&re=275&var=G183D	getma.org/pdb.php?prot=C1QT1_HUMAN&from=147&to=275&var=G183D	getma.org/?cm=var&var=hg19,17,77043872,G,A&fts=all	G183D	--	--	1																																		C1QTNF1_uc002jwq.2_Missense_Mutation_p.G101D|C1QTNF1_uc002jwr.3_Missense_Mutation_p.G193D|C1QTNF1_uc002jws.2_Missense_Mutation_p.G183D|C1QTNF1_uc002jwt.2_Missense_Mutation_p.G281D	1,1,1	1		probably_damaging(1)	p.G183D	NM_030968	NP_112230		deleterious(0)	1,1,1	C1QT1_HUMAN	C1QTNF1	HGNC	Q9BXJ1	C1QT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)				4	888	+			UPI0000035539	183			C1q.		SNV	C1QTNF1,missense_variant,p.Gly183Asp,ENST00000339142,NM_198593.3;C1QTNF1,missense_variant,p.Gly183Asp,ENST00000392445,NM_153372.1;C1QTNF1,missense_variant,p.Gly101Asp,ENST00000311661,NM_198594.2;C1QTNF1,missense_variant,p.Gly183Asp,ENST00000579760,NM_030968.3;C1QTNF1,missense_variant,p.Gly183Asp,ENST00000580474,;C1QTNF1,missense_variant,p.Gly193Asp,ENST00000354124,;C1QTNF1,missense_variant,p.Gly183Asp,ENST00000580454,;C1QTNF1,missense_variant,p.Gly183Asp,ENST00000581774,;C1QTNF1,missense_variant,p.Gly101Asp,ENST00000578229,;C1QTNF1,missense_variant,p.Gly183Asp,ENST00000583904,;C1QTNF1,non_coding_transcript_exon_variant,,ENST00000582625,;	uc002jwp.2	c.548G>A	1103/3100	2	2			c.548G>A						17	SNP	c.(547-549)GGC>GAC	42	42			ovary(1)	1	Broad	C1q and tumor necrosis factor related protein 1			77043872		0.547	ENSG00000173918	1919	g.chr17:77043872G>A		collagen								-31.405024	KEEP	1	5	-1	75	92	1	5	-1	7.439044	75	92	0.025641	1	0	0	0	0	1	0	0	0	--	--		0	A			C1QTNF1_uc002jwq.2_Missense_Mutation_p.G101D|C1QTNF1_uc002jwr.3_Missense_Mutation_p.G193D|C1QTNF1_uc002jws.2_Missense_Mutation_p.G183D|C1QTNF1_uc002jwt.2_Missense_Mutation_p.G281D	233	GBM-32-1986-TP	p.G183D	G	ATGTTCACCGGCAAGTTCTAC	NM_030968	NP_112230	77043872	Q9BXJ1	C1QT1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)		4	888	+	A	A			Missense_Mutation	183			C1q.			
C1QTNF6	0	broad.mit.edu	GRCh37	22	37578306	37578306	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-16-0846-01	TCGA-16-0846-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337843.2:c.759C>T	p.Arg253=	p.R253=	ENST00000337843	NM_031910.3	253	cgC/cgT	0			1			A	R	uc003aqw.1	protein_coding	YES	CCDS13943.1			759/837										0	c.(700-702)CGC>CGT			PROSITE_profiles:PS50871,hmmpanther:PTHR24022:SF72,hmmpanther:PTHR24022,Gene3D:2.60.120.40,Pfam_domain:PF00386,SMART_domains:SM00110,Superfamily_domains:SSF49842	C1q and tumor necrosis factor related protein 6				ENSP00000338812		3-Mar	4.12E-05		8.69E-05	0.000463					rs778601751,COSM3405654	3-Mar	common_variant		ENST00000337843	Transcript				collagen		ENSG00000133466	g.chr22:37578306G>A	14343			LOW								--	--	1																																		C1QTNF6_uc003aqx.1_Silent_p.R253R|C1QTNF6_uc003aqy.1_Silent_p.R253R|C1QTNF6_uc003aqz.1_RNA	0,1	1			p.R234R	NM_182486	NP_872292			0,1	C1QT6_HUMAN	C1QTNF6	HGNC	Q9BXI9	C1QT6_HUMAN					2	1207	-			UPI0000035BB4	234			C1q.		SNV	C1QTNF6,synonymous_variant,p.=,ENST00000337843,NM_031910.3;C1QTNF6,synonymous_variant,p.=,ENST00000397110,NM_182486.1;C1QTNF6,synonymous_variant,p.=,ENST00000255836,;RP1-151B14.6,intron_variant,,ENST00000419128,;C1QTNF6,non_coding_transcript_exon_variant,,ENST00000470655,;C1QTNF6,3_prime_UTR_variant,,ENST00000434784,;C1QTNF6,non_coding_transcript_exon_variant,,ENST00000493023,;	uc003aqw.1	c.702C>T	835/2934	2	2			c.702C>T						22	SNP	c.(700-702)CGC>CGT	22	22				0	Broad	C1q and tumor necrosis factor related protein 6			37578306		0.652	ENSG00000133466	1924	g.chr22:37578306G>A		collagen								64.414835	KEEP	17	9	-1	22	11	17	9	-1	64.657361	22	11	0.428571	1	0	0	0	0	0	0	1	0	--	--		0	A			C1QTNF6_uc003aqx.1_Silent_p.R253R|C1QTNF6_uc003aqy.1_Silent_p.R253R|C1QTNF6_uc003aqz.1_RNA	155	GBM-16-0846-TP	p.R234R	G	TGGCGTTCTCGCGCTGGCGCT	NM_182486	NP_872292	37578306	Q9BXI9	C1QT6_HUMAN	0			2	1207	-	A	A			Silent	234			C1q.			
C1QTNF6	0	broad.mit.edu	GRCh37	22	37581311	37581311	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01	TCGA-27-2523-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337843.2:c.236G>A	p.Arg79His	p.R79H	ENST00000337843	NM_031910.3	79	cGc/cAc	0			1			T	R/H	uc003aqw.1	protein_coding	YES	CCDS13943.1			236/837										0	c.(178-180)CGC>CAC			hmmpanther:PTHR24022:SF72,hmmpanther:PTHR24022	C1q and tumor necrosis factor related protein 6				ENSP00000338812		3-Feb	3.29E-05		8.70E-05		0.000153			0.000154	rs764254156,COSM3405655	3-Feb	.		ENST00000337843	Transcript				collagen		ENSG00000133466	g.chr22:37581311C>T	14343			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=C1QT6_HUMAN&rb=1&re=75&var=R60H	NA	getma.org/?cm=var&var=hg19,22,37581311,C,T&fts=all	R60H	--	--	1																																		C1QTNF6_uc003aqx.1_Missense_Mutation_p.R79H|C1QTNF6_uc003aqy.1_Missense_Mutation_p.R79H|C1QTNF6_uc003aqz.1_RNA	0,1	1		benign(0.016)	p.R60H	NM_182486	NP_872292		tolerated(0.17)	0,1	C1QT6_HUMAN	C1QTNF6	HGNC	Q9BXI9	C1QT6_HUMAN					1	684	-			UPI0000035BB4	60					SNV	C1QTNF6,missense_variant,p.Arg79His,ENST00000337843,NM_031910.3;C1QTNF6,missense_variant,p.Arg79His,ENST00000397110,NM_182486.1;C1QTNF6,upstream_gene_variant,,ENST00000255836,;RP1-151B14.6,downstream_gene_variant,,ENST00000419128,;C1QTNF6,non_coding_transcript_exon_variant,,ENST00000470655,;C1QTNF6,missense_variant,p.Arg79His,ENST00000434784,;C1QTNF6,non_coding_transcript_exon_variant,,ENST00000493023,;	uc003aqw.1	c.179G>A	312/2934	2	2			c.179G>A						22	SNP	c.(178-180)CGC>CAC	29	29				0	Broad	C1q and tumor necrosis factor related protein 6			37581311		0.632	ENSG00000133466	1924	g.chr22:37581311C>T		collagen								0.90824	KEEP	1	3	-1	12	24	1	3	-1	6.727774	12	24	0.088235	1	0	0	0	0	1	0	0	0	--	--		0	T			C1QTNF6_uc003aqx.1_Missense_Mutation_p.R79H|C1QTNF6_uc003aqy.1_Missense_Mutation_p.R79H|C1QTNF6_uc003aqz.1_RNA	201	GBM-27-2523-TP	p.R60H	C	GGCGTGGGGGCGGCCGGAGGA	NM_182486	NP_872292	37581311	Q9BXI9	C1QT6_HUMAN	0			1	684	-	T	T			Missense_Mutation	60						
C1QTNF6	114904		GRCh37	22	37581479	37581479	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000337843.2:c.68C>A	p.Ala23Asp	p.A23D	ENST00000337843	NM_031910.3	23	gCc/gAc	0																																																																																																																																																																																																																																												
C1S	716	broad.mit.edu	GRCh37	12	7177424	7177424	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000406697.1:c.1536G>A	p.Pro512=	p.P512=	ENST00000406697		512	ccG/ccA	0			1			A	P	uc001qsj.2	protein_coding		CCDS31735.1			1536/2067									skin(1)	1	c.(1534-1536)CCG>CCA			Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF001155,PROSITE_profiles:PS50240,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF24,SMART_domains:SM00020,Superfamily_domains:SSF50494	complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)			ENSP00000328173		12-Dec	8.24E-06							6.07E-05	rs778691266,COSM2149363	12-Dec	.		ENST00000328916	Transcript	1		complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	ENSG00000182326	g.chr12:7177424G>A	1247			LOW								--	--	1																																		C1S_uc001qsk.2_Silent_p.P512P|C1S_uc001qsl.2_Silent_p.P512P|C1S_uc009zfr.2_Silent_p.P345P|C1S_uc009zfs.2_RNA	0,1				p.P512P	NM_201442	NP_958850			0,1	C1S_HUMAN	C1S	HGNC	P09871	C1S_HUMAN			F8WCZ6_HUMAN,F5H7T4_HUMAN,C9JY52_HUMAN,C9IZP8_HUMAN,B5MCV4_HUMAN		15	2255	+			UPI0000126BF6	512			Peptidase S1.		SNV	C1S,synonymous_variant,p.=,ENST00000406697,;C1S,synonymous_variant,p.=,ENST00000328916,NM_201442.2;C1S,synonymous_variant,p.=,ENST00000360817,NM_001734.3;C1S,synonymous_variant,p.=,ENST00000402681,;C1S,downstream_gene_variant,,ENST00000542978,;C1S,non_coding_transcript_exon_variant,,ENST00000495061,;C1S,downstream_gene_variant,,ENST00000541647,;C1S,3_prime_UTR_variant,,ENST00000443875,;C1S,downstream_gene_variant,,ENST00000461983,;C1S,downstream_gene_variant,,ENST00000495053,;C1S,downstream_gene_variant,,ENST00000473545,;C1S,downstream_gene_variant,,ENST00000470326,;C1S,downstream_gene_variant,,ENST00000463798,;C1S,downstream_gene_variant,,ENST00000497061,;	uc001qsj.2	c.1536G>A	2060/2972	2	2			c.1536G>A						12	SNP	c.(1534-1536)CCG>CCA	30	30			skin(1)	1	Broad	complement component 1, s subcomponent		Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	7177424		0.507	ENSG00000182326	1931	g.chr12:7177424G>A	complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	GBM(156;750 1943 12971 24779 31015)			GBM(156;750 1943 12971 24779 31015)			110.506432	KEEP	16	19	-1	16	15	16	19	-1	110.641526	16	15	0.551724	1	0	0	0	0	0	0	1	0	--	--		0	A			C1S_uc001qsk.2_Silent_p.P512P|C1S_uc001qsl.2_Silent_p.P512P|C1S_uc009zfr.2_Silent_p.P345P|C1S_uc009zfs.2_RNA	12	GBM-06-0125-TP	p.P512P	G	TTATTCATCCGGGATGGAAGC	NM_201442	NP_958850	7177424	P09871	C1S_HUMAN	0			15	2255	+	A	A			Silent	512			Peptidase S1.			
C1S	0	broad.mit.edu	GRCh37	12	7177641	7177641	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-3653-01	TCGA-12-3653-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328916.3:c.1753G>A	p.Ala585Thr	p.A585T	ENST00000328916	NM_201442.2	585	Gca/Aca	0			1			A	A/T	uc001qsj.2	protein_coding		CCDS31735.1			1753/2067									skin(1)	1	c.(1753-1755)GCA>ACA			Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF001155,PROSITE_profiles:PS50240,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF24,SMART_domains:SM00020,Superfamily_domains:SSF50494	complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)			ENSP00000328173		12-Dec									COSM3399074	12-Dec	.		ENST00000328916	Transcript	1		complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	ENSG00000182326	g.chr12:7177641G>A	1247			MODERATE		0.67	neutral	getma.org/?cm=msa&ty=f&p=C1S_HUMAN&rb=438&re=675&var=A585T	getma.org/pdb.php?prot=C1S_HUMAN&from=438&to=675&var=A585T	getma.org/?cm=var&var=hg19,12,7177641,G,A&fts=all	A585T	--	--	1																																		C1S_uc001qsk.2_Missense_Mutation_p.A585T|C1S_uc001qsl.2_Missense_Mutation_p.A585T|C1S_uc009zfr.2_Missense_Mutation_p.A418T|C1S_uc009zfs.2_RNA	1			probably_damaging(0.992)	p.A585T	NM_201442	NP_958850		deleterious(0.03)	1	C1S_HUMAN	C1S	HGNC	P09871	C1S_HUMAN			F8WCZ6_HUMAN,F5H7T4_HUMAN,C9JY52_HUMAN,C9IZP8_HUMAN,B5MCV4_HUMAN		15	2472	+			UPI0000126BF6	585			Peptidase S1.		SNV	C1S,missense_variant,p.Ala585Thr,ENST00000406697,;C1S,missense_variant,p.Ala585Thr,ENST00000328916,NM_201442.2;C1S,missense_variant,p.Ala585Thr,ENST00000360817,NM_001734.3;C1S,missense_variant,p.Ala418Thr,ENST00000402681,;C1S,downstream_gene_variant,,ENST00000542978,;C1S,downstream_gene_variant,,ENST00000495061,;C1S,3_prime_UTR_variant,,ENST00000443875,;C1S,downstream_gene_variant,,ENST00000461983,;C1S,downstream_gene_variant,,ENST00000495053,;C1S,downstream_gene_variant,,ENST00000473545,;C1S,downstream_gene_variant,,ENST00000470326,;C1S,downstream_gene_variant,,ENST00000463798,;C1S,downstream_gene_variant,,ENST00000497061,;	uc001qsj.2	c.1753G>A	2277/2972	1	1			c.1753G>A						12	SNP	c.(1753-1755)GCA>ACA	58	58			skin(1)	1	Broad	complement component 1, s subcomponent		Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	7177641		0.512	ENSG00000182326	1931	g.chr12:7177641G>A	complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	GBM(156;750 1943 12971 24779 31015)			GBM(156;750 1943 12971 24779 31015)			-22.514606	KEEP	2	2	-1	60	66	2	2	-1	7.428628	60	66	0.032	1	0	0	0	0	1	0	0	0	--	--		0	A			C1S_uc001qsk.2_Missense_Mutation_p.A585T|C1S_uc001qsl.2_Missense_Mutation_p.A585T|C1S_uc009zfr.2_Missense_Mutation_p.A418T|C1S_uc009zfs.2_RNA	128	GBM-12-3653-TP	p.A585T	G	CCTCAAGGCGGCAAGGTTACC	NM_201442	NP_958850	7177641	P09871	C1S_HUMAN	0			15	2472	+	A	A			Missense_Mutation	585			Peptidase S1.			
C1S	0	broad.mit.edu	GRCh37	12	7174399	7174399	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-27-2527-01	TCGA-27-2527-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328916.3:c.1044T>A	p.Ser348Arg	p.S348R	ENST00000328916	NM_201442.2	348	agT/agA	0			1			A	S/R	uc001qsj.2	protein_coding		CCDS31735.1			1044/2067									skin(1)	1	c.(1042-1044)AGT>AGA			Gene3D:2.10.70.10,Pfam_domain:PF00084,PIRSF_domain:PIRSF001155,PROSITE_profiles:PS50923,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF24,SMART_domains:SM00032,Superfamily_domains:SSF57535	complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)			ENSP00000328173		12-Sep									COSM3399073	12-Sep	.		ENST00000328916	Transcript	1		complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	ENSG00000182326	g.chr12:7174399T>A	1247			MODERATE		3.385	medium	getma.org/?cm=msa&ty=f&p=C1S_HUMAN&rb=290&re=354&var=S348R	getma.org/pdb.php?prot=C1S_HUMAN&from=290&to=354&var=S348R	getma.org/?cm=var&var=hg19,12,7174399,T,A&fts=all	S348R	--	--	1																																		C1S_uc001qsk.2_Missense_Mutation_p.S348R|C1S_uc001qsl.2_Missense_Mutation_p.S348R|C1S_uc009zfr.2_Missense_Mutation_p.S181R|C1S_uc009zfs.2_RNA	1			probably_damaging(0.984)	p.S348R	NM_201442	NP_958850		deleterious(0)	1	C1S_HUMAN	C1S	HGNC	P09871	C1S_HUMAN			F8WCZ6_HUMAN,F5H7T4_HUMAN,C9JY52_HUMAN,C9IZP8_HUMAN,B5MCV4_HUMAN		12	1763	+			UPI0000126BF6	348			Sushi 1.		SNV	C1S,missense_variant,p.Ser348Arg,ENST00000406697,;C1S,missense_variant,p.Ser348Arg,ENST00000328916,NM_201442.2;C1S,missense_variant,p.Ser348Arg,ENST00000360817,NM_001734.3;C1S,missense_variant,p.Ser181Arg,ENST00000402681,;C1S,downstream_gene_variant,,ENST00000403949,;C1S,downstream_gene_variant,,ENST00000413211,;C1S,downstream_gene_variant,,ENST00000542978,;C1S,downstream_gene_variant,,ENST00000423384,;C1S,non_coding_transcript_exon_variant,,ENST00000495061,;C1S,downstream_gene_variant,,ENST00000541647,;C1S,downstream_gene_variant,,ENST00000543187,;C1S,3_prime_UTR_variant,,ENST00000443875,;C1S,non_coding_transcript_exon_variant,,ENST00000461983,;C1S,non_coding_transcript_exon_variant,,ENST00000470326,;C1S,downstream_gene_variant,,ENST00000495053,;C1S,downstream_gene_variant,,ENST00000488701,;C1S,downstream_gene_variant,,ENST00000473545,;C1S,downstream_gene_variant,,ENST00000489541,;C1S,downstream_gene_variant,,ENST00000463798,;C1S,upstream_gene_variant,,ENST00000497061,;	uc001qsj.2	c.1044T>A	1568/2972	2	2			c.1044T>A						12	SNP	c.(1042-1044)AGT>AGA	46	46			skin(1)	1	Broad	complement component 1, s subcomponent		Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	7174399		0.368	ENSG00000182326	1931	g.chr12:7174399T>A	complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	GBM(156;750 1943 12971 24779 31015)			GBM(156;750 1943 12971 24779 31015)			24.387525	KEEP	10	10	-1	78	89	10	10	-1	47.841083	78	89	0.120482	1	0	0	0	0	1	0	0	0	--	--		0	A			C1S_uc001qsk.2_Missense_Mutation_p.S348R|C1S_uc001qsl.2_Missense_Mutation_p.S348R|C1S_uc009zfr.2_Missense_Mutation_p.S181R|C1S_uc009zfs.2_RNA	204	GBM-27-2527-TP	p.S348R	T	GAAAGTGGAGTAATTCCAAAC	NM_201442	NP_958850	7174399	P09871	C1S_HUMAN	0			12	1763	+	A	A			Missense_Mutation	348			Sushi 1.			
C2	717	broad.mit.edu	GRCh37	6	31901955	31901955	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0141-01	TCGA-06-0141-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299367.5:c.728G>A	p.Arg243His	p.R243H	ENST00000299367	NM_000063.4	243	cGt/cAt	0		A:0	1	A:0		A	R/H	uc003nyf.2	protein_coding	YES	CCDS4728.1			728/2259									ovary(1)|skin(1)	2	c.(727-729)CGT>CAT			Superfamily_domains:SSF53300,PIRSF_domain:PIRSF001154,Gene3D:3.40.50.410,hmmpanther:PTHR19325:SF227,hmmpanther:PTHR19325	complement component 2 isoform 1 preproprotein		A:0		ENSP00000299367	A:0.001	18-Jun	8.24E-06					1.50E-05			rs201130773,COSM3410956	18-Jun	.		ENST00000299367	Transcript	1	A:0.0002	complement activation, classical pathway|innate immune response|proteolysis	extracellular space	serine-type endopeptidase activity	ENSG00000166278	g.chr6:31901955G>A	1248			MODERATE								--	--	1																																		C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|C2_uc011dop.1_Intron|C2_uc003nye.3_Missense_Mutation_p.R243H|C2_uc010jtk.2_Missense_Mutation_p.R111H|C2_uc011doq.1_Missense_Mutation_p.R214H|C2_uc003nyg.2_Intron|CFB_uc011dor.1_Intron|C2_uc003nyh.1_5'Flank	0,1	1		probably_damaging(0.999)	p.R243H	NM_000063	NP_000054	A:0	deleterious(0)	0,1	CO2_HUMAN	C2	HGNC	P06681	CO2_HUMAN		LUAD - Lung adenocarcinoma(999;0.247)	Q95IG1_HUMAN,Q6LDG4_HUMAN,Q5ST52_HUMAN,Q5JP69_HUMAN		6	992	+		Ovarian(999;0.00965)	UPI000000DA4D	243					SNV	C2,missense_variant,p.Arg243His,ENST00000299367,NM_000063.4;C2,missense_variant,p.Arg111His,ENST00000442278,NM_001145903.1;C2,missense_variant,p.Arg243His,ENST00000418949,NM_001282459.1;C2,missense_variant,p.Arg181His,ENST00000447952,;C2,missense_variant,p.Arg120His,ENST00000452202,;C2,missense_variant,p.Arg102His,ENST00000494905,;CFB,intron_variant,,ENST00000556679,;CFB,intron_variant,,ENST00000456570,;CFB,intron_variant,,ENST00000477310,;C2,intron_variant,,ENST00000452323,NM_001178063.1;C2,intron_variant,,ENST00000469372,NM_001282457.1;C2,intron_variant,,ENST00000383177,;C2,intron_variant,,ENST00000497706,;C2,missense_variant,p.Val75Ile,ENST00000411571,;C2,missense_variant,p.Val75Ile,ENST00000484636,;C2,3_prime_UTR_variant,,ENST00000482060,NM_001282458.1;C2,upstream_gene_variant,,ENST00000486124,;C2,upstream_gene_variant,,ENST00000485690,;	uc003nyf.2	c.728G>A	1004/2850	2	2			c.728G>A						6	SNP	c.(727-729)CGT>CAT	42	42			ovary(1)|skin(1)	2	Broad	complement component 2 isoform 1 preproprotein			31901955		0.547	ENSG00000166278	2031	g.chr6:31901955G>A	complement activation, classical pathway|innate immune response|proteolysis	extracellular space	serine-type endopeptidase activity							-57.343838	KEEP	1	4	-1	131	135	1	4	-1	7.855708	131	135	0.019841	1	0	0	0	0	1	0	0	0	--	--		0	A			C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|C2_uc011dop.1_Intron|C2_uc003nye.3_Missense_Mutation_p.R243H|C2_uc010jtk.2_Missense_Mutation_p.R111H|C2_uc011doq.1_Missense_Mutation_p.R214H|C2_uc003nyg.2_Intron|CFB_uc011dor.1_Intron|C2_uc003nyh.1_5'Flank	21	GBM-06-0141-TP	p.R243H	G	AGCCTGGGCCGTAAAATCCAA	NM_000063	NP_000054	31901955	P06681	CO2_HUMAN	0		LUAD - Lung adenocarcinoma(999;0.247)	6	992	+	A	A		Ovarian(999;0.00965)	Missense_Mutation	243						
C2	0	broad.mit.edu	GRCh37	6	31901972	31901972	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01	TCGA-14-2554-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299367.5:c.745C>T	p.Arg249Cys	p.R249C	ENST00000299367	NM_000063.4	249	Cgc/Tgc	0			1			T	R/C	uc003nyf.2	protein_coding	YES	CCDS4728.1			745/2259									ovary(1)|skin(1)	2	c.(745-747)CGC>TGC			Superfamily_domains:SSF53300,PIRSF_domain:PIRSF001154,Gene3D:3.40.50.410,hmmpanther:PTHR19325:SF227,hmmpanther:PTHR19325	complement component 2 isoform 1 preproprotein				ENSP00000299367		18-Jun	4.94E-05					8.99E-05			rs771081314,COSM3410957	18-Jun	.		ENST00000299367	Transcript	1		complement activation, classical pathway|innate immune response|proteolysis	extracellular space	serine-type endopeptidase activity	ENSG00000166278	g.chr6:31901972C>T	1248			MODERATE								--	--	1																																		C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|C2_uc011dop.1_Intron|C2_uc003nye.3_Missense_Mutation_p.R249C|C2_uc010jtk.2_Missense_Mutation_p.R117C|C2_uc011doq.1_Missense_Mutation_p.R220C|C2_uc003nyg.2_Intron|CFB_uc011dor.1_Intron|C2_uc003nyh.1_5'Flank	0,1	1		probably_damaging(0.988)	p.R249C	NM_000063	NP_000054		deleterious(0.01)	0,1	CO2_HUMAN	C2	HGNC	P06681	CO2_HUMAN		LUAD - Lung adenocarcinoma(999;0.247)	Q95IG1_HUMAN,Q6LDG4_HUMAN,Q5ST52_HUMAN,Q5JP69_HUMAN		6	1009	+		Ovarian(999;0.00965)	UPI000000DA4D	249	R -> S (in Ref. 7; AA sequence).				SNV	C2,missense_variant,p.Arg249Cys,ENST00000299367,NM_000063.4;C2,missense_variant,p.Arg117Cys,ENST00000442278,NM_001145903.1;C2,missense_variant,p.Arg249Cys,ENST00000418949,NM_001282459.1;C2,missense_variant,p.Arg187Cys,ENST00000447952,;C2,missense_variant,p.Arg126Cys,ENST00000452202,;C2,missense_variant,p.Arg108Cys,ENST00000494905,;CFB,intron_variant,,ENST00000556679,;CFB,intron_variant,,ENST00000456570,;CFB,intron_variant,,ENST00000477310,;C2,intron_variant,,ENST00000452323,NM_001178063.1;C2,intron_variant,,ENST00000469372,NM_001282457.1;C2,intron_variant,,ENST00000383177,;C2,intron_variant,,ENST00000497706,;C2,synonymous_variant,p.=,ENST00000411571,;C2,synonymous_variant,p.=,ENST00000484636,;C2,3_prime_UTR_variant,,ENST00000482060,NM_001282458.1;C2,upstream_gene_variant,,ENST00000486124,;C2,upstream_gene_variant,,ENST00000485690,;	uc003nyf.2	c.745C>T	1021/2850	1	1			c.745C>T						6	SNP	c.(745-747)CGC>TGC	6	6			ovary(1)|skin(1)	2	Broad	complement component 2 isoform 1 preproprotein			31901972		0.547	ENSG00000166278	2031	g.chr6:31901972C>T	complement activation, classical pathway|innate immune response|proteolysis	extracellular space	serine-type endopeptidase activity							-41.095233	KEEP	4	7	-1	145	149	4	7	-1	21.048044	145	149	0.040293	1	0	0	0	0	1	0	0	0	--	--		0	T			C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|C2_uc011dop.1_Intron|C2_uc003nye.3_Missense_Mutation_p.R249C|C2_uc010jtk.2_Missense_Mutation_p.R117C|C2_uc011doq.1_Missense_Mutation_p.R220C|C2_uc003nyg.2_Intron|CFB_uc011dor.1_Intron|C2_uc003nyh.1_5'Flank	150	GBM-14-2554-TP	p.R249C	C	CCAAATCCAGCGCTCTGGTCA	NM_000063	NP_000054	31901972	P06681	CO2_HUMAN	0		LUAD - Lung adenocarcinoma(999;0.247)	6	1009	+	T	T		Ovarian(999;0.00965)	Missense_Mutation	249	R -> S (in Ref. 7; AA sequence).					
C20orf194	0	broad.mit.edu	GRCh37	20	3274853	3274853	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs145634255	by1000genomes	TCGA-16-1045-01	TCGA-16-1045-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252032.9:c.2170C>T	p.Arg724Trp	p.R724W	ENST00000252032	NM_001009984.2	724	Cgg/Tgg	0	A:0.0003		1			A	R/W	uc002wii.2	protein_coding	YES	CCDS42851.1			2170/3534										0	c.(2170-2172)CGG>TGG				hypothetical protein LOC25943			A:0	ENSP00000252032		25/37	1.65E-05			0.000232					rs368275201,COSM1411282,COSM3405030	25/37	.		ENST00000252032	Transcript						ENSG00000088854	g.chr20:3274853G>A	17721			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=CT194_HUMAN&rb=601&re=800&var=R724W	NA	getma.org/?cm=var&var=hg19,20,3274853,G,A&fts=all	R724W	--	--	1																																		C20orf194_uc002wij.3_Missense_Mutation_p.R463W|C20orf194_uc002wik.2_Missense_Mutation_p.R398W	0,1,1	1		possibly_damaging(0.785)	p.R724W	NM_001009984	NP_001009984		deleterious(0.02)	0,1,1	CT194_HUMAN	C20orf194	HGNC	Q5TEA3	CT194_HUMAN			Q3KQR5_HUMAN		25	2221	-			UPI0000470A8D	724					SNV	C20orf194,missense_variant,p.Arg724Trp,ENST00000252032,NM_001009984.2;C20orf194,missense_variant,p.Arg462Trp,ENST00000453730,;C20orf194,downstream_gene_variant,,ENST00000498079,;	uc002wii.2	c.2170C>T	2238/6869	1	1			c.2170C>T						20	SNP	c.(2170-2172)CGG>TGG	55	55				0	Broad	hypothetical protein LOC25943			3274853		0.468	ENSG00000088854	2056	g.chr20:3274853G>A										-22.808316	KEEP	4	0	-1	56	75	4	0	-1	7.70048	56	75	0.031496	1	0	0	0	0	1	0	0	0	--	--		0	A			C20orf194_uc002wij.3_Missense_Mutation_p.R463W|C20orf194_uc002wik.2_Missense_Mutation_p.R398W	157	GBM-16-1045-TP	p.R724W	G	AGATGGGTCCGCATCACAGGC	NM_001009984	NP_001009984	3274853	Q5TEA3	CT194_HUMAN	0			25	2221	-	A	A			Missense_Mutation	724						
C20orf27	54976	broad.mit.edu	GRCh37	20	3735070	3735070	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0157-01	TCGA-06-0157-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217195.8:c.473G>A	p.Arg158His	p.R158H	ENST00000217195	NM_001039140.2	158	cGc/cAc	0	T:0		1			T	R/H	uc002wji.1	protein_coding		CCDS58763.1			398/525										0	c.(397-399)CGC>CAC			Pfam_domain:PF15006,hmmpanther:PTHR13287	hypothetical protein LOC54976			T:0.0001	ENSP00000369097		6-May	2.47E-05		0.000259						rs374709259,COSM2150070	6-May	.		ENST00000379772	Transcript						ENSG00000101220	g.chr20:3735070C>T	15873			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=CT027_HUMAN&rb=1&re=172&var=R133H	NA	getma.org/?cm=var&var=hg19,20,3735070,C,T&fts=all	R133H	--	--	1																																		C20orf27_uc002wjf.1_3'UTR|C20orf27_uc002wjh.1_Missense_Mutation_p.R158H	0,1			benign(0.009)	p.R133H	NM_001039140	NP_001034229		deleterious(0.04)	0,1	CT027_HUMAN	C20orf27	HGNC	Q9GZN8	CT027_HUMAN					5	627	-			UPI00001285D7	133					SNV	C20orf27,missense_variant,p.Arg133His,ENST00000379772,NM_001258429.1;C20orf27,missense_variant,p.Arg133His,ENST00000399672,NM_001258430.1;C20orf27,missense_variant,p.Arg158His,ENST00000217195,NM_001039140.2;C20orf27,intron_variant,,ENST00000399683,;HSPA12B,downstream_gene_variant,,ENST00000254963,NM_052970.4,NM_001197327.1;HSPA12B,downstream_gene_variant,,ENST00000399701,;HSPA12B,downstream_gene_variant,,ENST00000542646,;	uc002wji.1	c.398G>A	1209/1886	2	2			c.398G>A						20	SNP	c.(397-399)CGC>CAC	35	35				0	Broad	hypothetical protein LOC54976			3735070		0.602	ENSG00000101220	2063	g.chr20:3735070C>T										266.510022	KEEP	55	57	-1	70	71	55	57	-1	267.355681	70	71	0.43318	1	0	0	0	0	1	0	0	0	--	--		0	T			C20orf27_uc002wjf.1_3'UTR|C20orf27_uc002wjh.1_Missense_Mutation_p.R158H	28	GBM-06-0157-TP	p.R133H	C	CACCGTCACGCGCACACAGGT	NM_001039140	NP_001034229	3735070	Q9GZN8	CT027_HUMAN	0			5	627	-	T	T			Missense_Mutation	133						
C20orf85	0	broad.mit.edu	GRCh37	20	56728664	56728664	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-28-5219-01	TCGA-28-5219-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371168.3:c.133A>T	p.Thr45Ser	p.T45S	ENST00000371168	NM_178456.2	45	Aca/Tca	0			1			T	T/S	uc002xyv.2	protein_coding	YES	CCDS13465.1			133/414									ovary(1)	1	c.(133-135)ACA>TCA			Pfam_domain:PF14945,hmmpanther:PTHR31909,hmmpanther:PTHR31909:SF3	hypothetical protein LOC128602				ENSP00000360210		4-Feb									COSM3405231	4-Feb	.		ENST00000371168	Transcript						ENSG00000124237	g.chr20:56728664A>T	16216			MODERATE		1.375	low	getma.org/?cm=msa&ty=f&p=CT085_HUMAN&rb=1&re=135&var=T45S	NA	getma.org/?cm=var&var=hg19,20,56728664,A,T&fts=all	T45S	--	--	1																																			1	1		benign(0.009)	p.T45S	NM_178456	NP_848551		tolerated(0.2)	1	CT085_HUMAN	C20orf85	HGNC	Q9H1P6	CT085_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)				2	171	+	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		UPI00001285EF	45					SNV	C20orf85,missense_variant,p.Thr45Ser,ENST00000371168,NM_178456.2;	uc002xyv.2	c.133A>T	194/803	2	2			c.133A>T						20	SNP	c.(133-135)ACA>TCA	22	22			ovary(1)	1	Broad	hypothetical protein LOC128602			56728664		0.433	ENSG00000124237	2076	g.chr20:56728664A>T										275.144235	KEEP	50	50	-1	97	104	50	50	-1	281.778434	97	104	0.336879	1	0	0	0	0	1	0	0	0	--	--		0	T				225	GBM-28-5219-TP	p.T45S	A	GGGGTTTTTAACAACCCCTTT	NM_178456	NP_848551	56728664	Q9H1P6	CT085_HUMAN	0	BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)		2	171	+	T	T	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		Missense_Mutation	45						
C21orf128			GRCh37	21	43523936	43523936	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000329015.2:c.297C>G	p.Phe99Leu	p.F99L	ENST00000329015		99	ttC/ttG	0																																																																																																																																																																																																																																												
C21orf128			GRCh37	21	43524114	43524114	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000329015.2:c.119C>G	p.Ala40Gly	p.A40G	ENST00000329015		40	gCc/gGc	0																																																																																																																																																																																																																																												
C21orf91	54149	broad.mit.edu	GRCh37	21	19169182	19169182	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-6389-01	TCGA-06-6389-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284881.4:c.381A>G	p.Pro127=	p.P127=	ENST00000284881	NM_001100420.1	127	ccA/ccG	0			1			C	P	uc002yko.3	protein_coding	YES	CCDS42907.1			381/894									ovary(1)	1	c.(379-381)CCA>CCG			Pfam_domain:PF06937,hmmpanther:PTHR15961	early undifferentiated retina and lens isoform				ENSP00000284881		5-Mar										5-Mar	.		ENST00000284881	Transcript						ENSG00000154642	g.chr21:19169182T>C	16459			LOW								--	--	1																																		C21orf91_uc002ykq.3_Silent_p.P127P|C21orf91_uc002ykp.3_Silent_p.P127P		1			p.P127P	NM_001100420	NP_001093890				EURL_HUMAN	C21orf91	HGNC	Q9NYK6	EURL_HUMAN		Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)	Q68DA1_HUMAN,E7ETB0_HUMAN		3	472	-			UPI000004A0E1	127					SNV	C21orf91,synonymous_variant,p.=,ENST00000284881,NM_001100420.1,NM_017447.3;C21orf91,synonymous_variant,p.=,ENST00000400559,;C21orf91,synonymous_variant,p.=,ENST00000400558,NM_001100421.1;C21orf91,synonymous_variant,p.=,ENST00000405964,;C21orf91-OT1,upstream_gene_variant,,ENST00000430815,;C21orf91-OT1,upstream_gene_variant,,ENST00000439392,;C21orf91-OT1,upstream_gene_variant,,ENST00000430401,;AL109761.5,intron_variant,,ENST00000428689,;C21orf91,non_coding_transcript_exon_variant,,ENST00000493464,;	uc002yko.3	c.381A>G	472/5433	3	3			c.381A>G						21	SNP	c.(379-381)CCA>CCG	1	1			ovary(1)	1	Broad	early undifferentiated retina and lens isoform			19169182		0.383	ENSG00000154642	2091	g.chr21:19169182T>C										92.244652	KEEP	20	28	-1	78	125	20	28	-1	112.73303	78	125	0.18552	1	0	0	0	0	0	0	1	0	--	--		0	C			C21orf91_uc002ykq.3_Silent_p.P127P|C21orf91_uc002ykp.3_Silent_p.P127P	105	GBM-06-6389-TP	p.P127P	T	ATTTTTCTTCTGGCTTATGCC	NM_001100420	NP_001093890	19169182	Q9NYK6	EURL_HUMAN	0		Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)	3	472	-	C	C			Silent	127						
YWHAH-AS1	0	broad.mit.edu	GRCh37	22	32334001	32334001	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-14-0786-01	TCGA-14-0786-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000248984.3:c.52A>G	p.Thr18Ala	p.T18A	ENST00000248984	NM_015372.1	18	Acc/Gcc	0			1			C	T/A	uc003aly.2	protein_coding	YES	CCDS46693.1			52/483									central_nervous_system(1)	1	c.(52-54)ACC>GCC				hypothetical protein LOC25775				ENSP00000248984		3-Feb									COSM3405626,COSM3405624,COSM3405625	3-Feb	.		ENST00000248984	Transcript				integral to membrane		ENSG00000128254	g.chr22:32334001T>C	23051			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CV024_HUMAN&rb=1&re=39&var=T18A	NA	getma.org/?cm=var&var=hg19,22,32334001,T,C&fts=all	T18A	--	--	1																																		C22orf24_uc003alx.2_RNA	1,1,1	1		benign(0.007)	p.T18A	NM_015372	NP_056187		tolerated_low_confidence(0.1)	1,1,1	CV024_HUMAN	C22orf24	HGNC	Q9Y442	CV024_HUMAN					2	219	-			UPI0000071D69	18					SNV	C22orf24,missense_variant,p.Thr18Ala,ENST00000248984,NM_015372.1;C22orf24,missense_variant,p.Thr85Ala,ENST00000543051,;C22orf24,non_coding_transcript_exon_variant,,ENST00000486651,;C22orf24,non_coding_transcript_exon_variant,,ENST00000484682,;	uc003aly.2	c.52A>G	219/1247	3	3			c.52A>G						22	SNP	c.(52-54)ACC>GCC	63	63			central_nervous_system(1)	1	Broad	hypothetical protein LOC25775			32334001		0.413	ENSG00000128254	2095	g.chr22:32334001T>C		integral to membrane								622.008149	KEEP	111	102	-1	132	125	111	102	-1	623.594102	132	125	0.434368	1	0	0	0	0	1	0	0	0	--	--		0	C			C22orf24_uc003alx.2_RNA	134	GBM-14-0786-TP	p.T18A	T	CTTGACATGGTCCAAAGACTT	NM_015372	NP_056187	32334001	Q9Y442	CV024_HUMAN	0			2	219	-	C	C			Missense_Mutation	18						
C22orf26			GRCh37	22	46449890	46449890	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000396008.2:c.84del	p.Asn29ThrfsTer122	p.N29Tfs*122	ENST00000396008		28	ccC/cc	0																																																																																																																																																																																																																																												
C22orf42	0	broad.mit.edu	GRCh37	22	32546408	32546408	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-1832-01	TCGA-27-1832-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382097.3:c.552G>A	p.Ser184=	p.S184=	ENST00000382097	NM_001010859.1	184	tcG/tcA	0			1			T	S	uc003amd.2	protein_coding	YES	CCDS33639.1			552/756									ovary(1)|skin(1)	2	c.(550-552)TCG>TCA			hmmpanther:PTHR15880,hmmpanther:PTHR15880:SF1,Low_complexity_(Seg):seg	chromosome 22 open reading frame 42				ENSP00000371529		9-Jul	3.29E-05		8.64E-05	0.000116		3.00E-05			rs758973692,COSM3405629	9-Jul	.		ENST00000382097	Transcript						ENSG00000205856	g.chr22:32546408C>T	27160			LOW								--	--	1																																			0,1	1			p.S184S	NM_001010859	NP_001010859			0,1	CV042_HUMAN	C22orf42	HGNC	Q6IC83	CV042_HUMAN					7	593	-			UPI00003765B0	184					SNV	C22orf42,synonymous_variant,p.=,ENST00000382097,NM_001010859.1;C22orf42,upstream_gene_variant,,ENST00000490640,;C22orf42,non_coding_transcript_exon_variant,,ENST00000467813,;	uc003amd.2	c.552G>A	625/1363	1	1			c.552G>A						22	SNP	c.(550-552)TCG>TCA	5	5			ovary(1)|skin(1)	2	Broad	chromosome 22 open reading frame 42			32546408		0.458	ENSG00000205856	2105	g.chr22:32546408C>T										154.856193	KEEP	24	32	-1	81	84	24	32	-1	165.107452	81	84	0.2657	1	0	0	0	0	0	0	1	0	--	--		0	T				191	GBM-27-1832-TP	p.S184S	C	CACTGAGATCCGATGTCATGA	NM_001010859	NP_001010859	32546408	Q6IC83	CV042_HUMAN	0			7	593	-	T	T			Silent	184						
C22orf43	0	broad.mit.edu	GRCh37	22	23959767	23959769	+	inframe_deletion	In_Frame_Del	DEL	CAT	CAT	-			TCGA-14-0786-01	TCGA-14-0786-01	CAT	CAT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317749.5:c.512_514delATG	p.Asp171del	p.D171del	ENST00000317749	NM_016449.3	171	gATGcc/gcc	0	-:0.01	-:0	1	-:0.0029		-	DA/A	uc002zxf.2	protein_coding	YES	CCDS42985.1			512-514/690									skin(1)	1	c.(511-516)GATGCC>GCC			hmmpanther:PTHR15880,hmmpanther:PTHR15880:SF0,Low_complexity_(Seg):seg	hypothetical protein LOC51233		-:0.001	-:0.0119	ENSP00000316137	-:0	12-Jul	0.00321	0.00249	0.00263	0.00352	0.00198	0.00222	0.00337	0.00288	rs567906771	12-Jul	common_variant		ENST00000317749	Transcript		-:0.0008				ENSG00000189269	g.chr22:23959767_23959769delCAT	28031			MODERATE								--	--	1																																				1			p.D171del	NM_016449	NP_057533	-:0.001			CV043_HUMAN	C22orf43	HGNC	Q6PGQ1	CV043_HUMAN					7	789_791	-			UPI00001CE017	171			Asp-rich.		deletion	C22orf43,inframe_deletion,p.Asp171del,ENST00000317749,NM_016449.3;	uc002zxf.2	c.512_514delATG	810-812/1300	5	5			c.512_514delATG						22	DEL	c.(511-516)GATGCC>GCC	2	2			skin(1)	1	Broad	hypothetical protein LOC51233			23959769		0.261	ENSG00000189269	2106	g.chr22:23959767_23959769delCAT																							0.05	1	1	0	1	0	0	0	0	0	--	--		0	-				134	GBM-14-0786-TP	p.D171del	CAT	CTTACCTGGGcatcatcatcatc	NM_016449	NP_057533	23959767	Q6PGQ1	CV043_HUMAN	0			7	789_791	-	-	-			In_Frame_Del	171			Asp-rich.			
C22orf43	0	broad.mit.edu	GRCh37	22	23974205	23974205	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-2571-01	TCGA-41-2571-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317749.5:c.6G>A	p.Gly2=	p.G2=	ENST00000317749	NM_016449.3	2	ggG/ggA	0			1			T	G	uc002zxf.2	protein_coding	YES	CCDS42985.1			6/690									skin(1)	1	c.(4-6)GGG>GGA			hmmpanther:PTHR15880,hmmpanther:PTHR15880:SF0	hypothetical protein LOC51233				ENSP00000316137		12-Jan									COSM3405544	12-Jan	.		ENST00000317749	Transcript						ENSG00000189269	g.chr22:23974205C>T	28031			LOW								--	--	1																																			1	1			p.G2G	NM_016449	NP_057533			1	CV043_HUMAN	C22orf43	HGNC	Q6PGQ1	CV043_HUMAN					1	283	-			UPI00001CE017	2					SNV	C22orf43,synonymous_variant,p.=,ENST00000317749,NM_016449.3;KB-1572G7.3,intron_variant,,ENST00000390329,;	uc002zxf.2	c.6G>A	304/1300	1	1			c.6G>A						22	SNP	c.(4-6)GGG>GGA	16	16			skin(1)	1	Broad	hypothetical protein LOC51233			23974205		0.547	ENSG00000189269	2106	g.chr22:23974205C>T										90.576946	KEEP	20	21	-1	29	27	20	21	-1	91.12485	29	27	0.410256	1	0	0	0	0	0	0	1	0	--	--		0	T				250	GBM-41-2571-TP	p.G2G	C	TCAGTATATTCCCCATGGGGC	NM_016449	NP_057533	23974205	Q6PGQ1	CV043_HUMAN	0			1	283	-	T	T			Silent	2						
C2CD2	0	broad.mit.edu	GRCh37	21	43327136	43327136	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01	TCGA-15-0742-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380486.3:c.1283G>A	p.Arg428His	p.R428H	ENST00000380486	NM_015500.1	428	cGc/cAc	0			1			T	R/H	uc002yzw.2	protein_coding	YES	CCDS42933.1			1283/2091									ovary(1)	1	c.(1282-1284)CGC>CAC			hmmpanther:PTHR21119:SF6,hmmpanther:PTHR21119	C2 calcium-dependent domain containing 2 isoform				ENSP00000369853		14-Oct									rs571197268,COSM1566056	14-Oct	.		ENST00000380486	Transcript				cytosol|extracellular region|nucleus		ENSG00000157617	g.chr21:43327136C>T	1266			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=CU025_HUMAN&rb=347&re=546&var=R428H	NA	getma.org/?cm=var&var=hg19,21,43327136,C,T&fts=all	R428H	--	--	1																																		C2CD2_uc002yzt.2_Missense_Mutation_p.R44H|C2CD2_uc002yzu.2_Missense_Mutation_p.R260H|C2CD2_uc002yzv.2_Missense_Mutation_p.R273H|C2CD2_uc002yzx.1_Missense_Mutation_p.R273H	0,1	1		probably_damaging(0.98)	p.R428H	NM_015500	NP_056315		deleterious(0.01)	0,1	CU025_HUMAN	C2CD2	HGNC	Q9Y426	CU025_HUMAN					10	1525	-			UPI0000206BBE	428					SNV	C2CD2,missense_variant,p.Arg428His,ENST00000380486,NM_015500.1;C2CD2,missense_variant,p.Arg273His,ENST00000329623,NM_199050.2;C2CD2,non_coding_transcript_exon_variant,,ENST00000482186,;C2CD2,non_coding_transcript_exon_variant,,ENST00000482084,;C2CD2,non_coding_transcript_exon_variant,,ENST00000467074,;	uc002yzw.2	c.1283G>A	1525/6345	2	2			c.1283G>A						21	SNP	c.(1282-1284)CGC>CAC	24	24			ovary(1)	1	Broad	C2 calcium-dependent domain containing 2 isoform			43327136		0.592	ENSG00000157617	2108	g.chr21:43327136C>T		cytosol|extracellular region|nucleus								118.883518	KEEP	27	27	-1	58	39	27	27	-1	121.572004	58	39	0.344	1	0	0	0	0	1	0	0	0	--	--		0	T			C2CD2_uc002yzt.2_Missense_Mutation_p.R44H|C2CD2_uc002yzu.2_Missense_Mutation_p.R260H|C2CD2_uc002yzv.2_Missense_Mutation_p.R273H|C2CD2_uc002yzx.1_Missense_Mutation_p.R273H	153	GBM-15-0742-TP	p.R428H	C	CACGTCGACGCGAGGCTTGGT	NM_015500	NP_056315	43327136	Q9Y426	CU025_HUMAN	0			10	1525	-	T	T			Missense_Mutation	428						
C2CD2L	9854	broad.mit.edu	GRCh37	11	118984640	118984640	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01	TCGA-06-0744-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336702.3:c.1568G>A	p.Arg523Gln	p.R523Q	ENST00000336702	NM_014807.3	523	cGg/cAg	0			1			A	R/Q	uc001pvo.2	protein_coding	YES	CCDS8413.1			1568/2124										0	c.(1564-1566)CGG>CAG			hmmpanther:PTHR21119,hmmpanther:PTHR21119:SF4	transmembrane protein 24				ENSP00000338885		14-Dec	3.29E-05		0.000259			1.50E-05			rs750634362,COSM2151673	14-Dec	.		ENST00000336702	Transcript				integral to membrane		ENSG00000172375	g.chr11:118984640G>A	29000			MODERATE		0.755	neutral	getma.org/?cm=msa&ty=f&p=C2C2L_HUMAN&rb=401&re=600&var=R522Q	NA	getma.org/?cm=var&var=hg19,11,118984640,G,A&fts=all	R522Q	--	--	1																																		C2CD2L_uc001pvn.2_Missense_Mutation_p.R523Q	0,1	1		benign(0.392)	p.R522Q	NM_014807	NP_055622		deleterious(0)	0,1	C2C2L_HUMAN	C2CD2L	HGNC	O14523	C2C2L_HUMAN					12	1924	+			UPI0000192105	522					SNV	C2CD2L,missense_variant,p.Arg523Gln,ENST00000336702,NM_014807.3;C2CD2L,missense_variant,p.Arg270Gln,ENST00000528586,;C2CD2L,non_coding_transcript_exon_variant,,ENST00000525598,;C2CD2L,non_coding_transcript_exon_variant,,ENST00000529874,;C2CD2L,downstream_gene_variant,,ENST00000533458,;	uc001pvo.2	c.1565G>A	1927/4769	2	2			c.1565G>A						11	SNP	c.(1564-1566)CGG>CAG	43	43				0	Broad	transmembrane protein 24			118984640		0.587	ENSG00000172375	2109	g.chr11:118984640G>A		integral to membrane								159.273722	KEEP	31	21	-1	30	23	31	21	-1	159.273722	30	23	0.5	1	0	0	0	0	1	0	0	0	--	--		0	A			C2CD2L_uc001pvn.2_Missense_Mutation_p.R523Q	66	GBM-06-0744-TP	p.R522Q	G	CCCAGTGGGCGGGTGGCCAAG	NM_014807	NP_055622	118984640	O14523	C2C2L_HUMAN	0			12	1924	+	A	A			Missense_Mutation	522						
C2CD5	0	broad.mit.edu	GRCh37	12	22602814	22602815	+	frameshift_variant	Frame_Shift_Del	DEL	AA	AA	-			TCGA-32-2491-01	TCGA-32-2491-01	AA	AA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333957.4:c.2882_2883delTT	p.Leu961HisfsTer6	p.L961Hfs*6	ENST00000333957	NM_014802.1	961	cTT/c	0			1			-	L/X	uc001rfq.2	protein_coding	YES	CCDS31758.1			2882-2883/3003									ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4	c.(2881-2883)CTTfs				hypothetical protein LOC9847				ENSP00000334229		25/25										25/25	.		ENST00000333957	Transcript					protein binding	ENSG00000111731	g.chr12:22602814_22602815delAA	29062			HIGH								--	--	1																																		KIAA0528_uc010sir.1_Frame_Shift_Del_p.L817fs|KIAA0528_uc010sis.1_Frame_Shift_Del_p.L1012fs|KIAA0528_uc010sit.1_Frame_Shift_Del_p.L1014fs|KIAA0528_uc010siu.1_Frame_Shift_Del_p.L1012fs|KIAA0528_uc001rfr.2_Frame_Shift_Del_p.L1003fs		1			p.L961fs	NM_014802	NP_055617				C2CD5_HUMAN	C2CD5	HGNC	Q86YS7	K0528_HUMAN					25	3110_3111	-			UPI000000D850	961					deletion	C2CD5,frameshift_variant,p.Leu961HisfsTer6,ENST00000333957,NM_014802.1;C2CD5,frameshift_variant,p.Leu1014HisfsTer6,ENST00000536386,NM_001286173.1;C2CD5,frameshift_variant,p.Leu1012HisfsTer6,ENST00000446597,NM_001286176.1;C2CD5,frameshift_variant,p.Leu817HisfsTer6,ENST00000544930,;C2CD5,frameshift_variant,p.Leu1015HisfsTer6,ENST00000545552,NM_001286175.1;C2CD5,frameshift_variant,p.Leu1003HisfsTer6,ENST00000396028,NM_001286177.1;C2CD5,frameshift_variant,p.Leu1012HisfsTer6,ENST00000542676,NM_001286174.1;C2CD5,frameshift_variant,p.Leu262HisfsTer6,ENST00000539615,;	uc001rfq.2	c.2882_2883delTT	3138-3139/4436	5	5			c.2882_2883delTT						12	DEL	c.(2881-2883)CTTfs	48	48			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4	Broad	hypothetical protein LOC9847			22602815		0.411	ENSG00000111731	8043	g.chr12:22602814_22602815delAA			protein binding																				0.26	1	1	0	1	0	0	0	0	0	--	--		0	-			KIAA0528_uc010sir.1_Frame_Shift_Del_p.L817fs|KIAA0528_uc010sis.1_Frame_Shift_Del_p.L1012fs|KIAA0528_uc010sit.1_Frame_Shift_Del_p.L1014fs|KIAA0528_uc010siu.1_Frame_Shift_Del_p.L1012fs|KIAA0528_uc001rfr.2_Frame_Shift_Del_p.L1003fs	235	GBM-32-2491-TP	p.L961fs	AA	TTACATTTATAAGACACTGTGC	NM_014802	NP_055617	22602814	Q86YS7	K0528_HUMAN	0			25	3110_3111	-	-	-			Frame_Shift_Del	961						
C2orf16	84226	broad.mit.edu	GRCh37	2	27803330	27803330	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0157-01	TCGA-06-0157-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408964.2:c.3891T>C	p.Leu1297=	p.L1297=	ENST00000408964	NM_032266.3	1297	ctT/ctC	0			1			C	L	uc002rkz.3	protein_coding	YES	CCDS42666.1			3891/5955									large_intestine(1)	1	c.(3889-3891)CTT>CTC				hypothetical protein LOC84226				ENSP00000386190		1-Jan									rs535533658,COSM3407800,COSM3407799	1-Jan	.		ENST00000408964	Transcript						ENSG00000221843	g.chr2:27803330T>C	25275			LOW								--	--	1																																		ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	0,1,1	1			p.L1297L	NM_032266	NP_115642			0,1,1	CB016_HUMAN	C2orf16	HGNC	Q68DN1	CB016_HUMAN					1	3942	+	Acute lymphoblastic leukemia(172;0.155)		UPI0000D61179	1297					SNV	C2orf16,synonymous_variant,p.=,ENST00000408964,NM_032266.3;ZNF512,upstream_gene_variant,,ENST00000355467,NM_001271289.1,NM_001271288.1,NM_001271287.1,NM_032434.3,NM_001271318.1;ZNF512,upstream_gene_variant,,ENST00000379717,;ZNF512,upstream_gene_variant,,ENST00000416005,NM_001271286.1;ZNF512,upstream_gene_variant,,ENST00000413371,;ZNF512,upstream_gene_variant,,ENST00000556601,;AC074091.1,downstream_gene_variant,,ENST00000408604,;RP11-158I13.2,upstream_gene_variant,,ENST00000505973,;ZNF512,upstream_gene_variant,,ENST00000494548,;ZNF512,upstream_gene_variant,,ENST00000461705,;	uc002rkz.3	c.3891T>C	3942/6200	3	3			c.3891T>C						2	SNP	c.(3889-3891)CTT>CTC	55	55			large_intestine(1)	1	Broad	hypothetical protein LOC84226			27803330		0.403	ENSG00000221843	2113	g.chr2:27803330T>C										-15.526036	KEEP	3	2	-1	42	86	3	2	-1	12.689173	42	86	0.040323	1	0	0	0	0	0	0	1	0	--	--		0	C			ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	28	GBM-06-0157-TP	p.L1297L	T	CCAAGCGACTTAGAAAACACA	NM_032266	NP_115642	27803330	Q68DN1	CB016_HUMAN	0			1	3942	+	C	C	Acute lymphoblastic leukemia(172;0.155)		Silent	1297						
C2orf16	84226	broad.mit.edu	GRCh37	2	27799823	27799823	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5856-01	TCGA-06-5856-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408964.2:c.384G>A	p.Gln128=	p.Q128=	ENST00000408964	NM_032266.3	128	caG/caA	0			1			A	Q	uc002rkz.3	protein_coding	YES	CCDS42666.1			384/5955									large_intestine(1)	1	c.(382-384)CAG>CAA				hypothetical protein LOC84226				ENSP00000386190		1-Jan									COSM3407796,COSM3407795	1-Jan	.		ENST00000408964	Transcript						ENSG00000221843	g.chr2:27799823G>A	25275			LOW								--	--	1																																			1,1	1			p.Q128Q	NM_032266	NP_115642			1,1	CB016_HUMAN	C2orf16	HGNC	Q68DN1	CB016_HUMAN					1	435	+	Acute lymphoblastic leukemia(172;0.155)		UPI0000D61179	128					SNV	C2orf16,synonymous_variant,p.=,ENST00000408964,NM_032266.3;AC074091.1,downstream_gene_variant,,ENST00000408604,;	uc002rkz.3	c.384G>A	435/6200	2	2			c.384G>A						2	SNP	c.(382-384)CAG>CAA	45	45			large_intestine(1)	1	Broad	hypothetical protein LOC84226			27799823		0.403	ENSG00000221843	2113	g.chr2:27799823G>A										86.874522	KEEP	12	19	-1	26	33	12	19	-1	88.57832	26	33	0.345679	1	0	0	0	0	0	0	1	0	--	--		0	A				101	GBM-06-5856-TP	p.Q128Q	G	CAGGGCATCAGTTTGCAAAAT	NM_032266	NP_115642	27799823	Q68DN1	CB016_HUMAN	0			1	435	+	A	A	Acute lymphoblastic leukemia(172;0.155)		Silent	128						
C2orf16	84226		GRCh37	2	27801373	27801373	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000408964.2:c.1934T>C	p.Val645Ala	p.V645A	ENST00000408964	NM_032266.3	645	gTa/gCa	0																																																																																																																																																																																																																																												
C2orf54	0	broad.mit.edu	GRCh37	2	241831024	241831024	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-5133-01	TCGA-26-5133-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388934.4:c.671C>T	p.Pro224Leu	p.P224L	ENST00000388934	NM_001085437.1	224	cCt/cTt	0			1			A	P/L	uc002wae.3	protein_coding	YES	CCDS42839.1			671/1344										0	c.(670-672)CCT>CTT			hmmpanther:PTHR10656:SF7,hmmpanther:PTHR10656,Pfam_domain:PF03281	hypothetical protein LOC79919 isoform 1				ENSP00000373586		5-Feb									COSM3407746	5-Feb	.		ENST00000388934	Transcript						ENSG00000172478	g.chr2:241831024G>A	26216			MODERATE		2.28	medium	getma.org/?cm=msa&ty=f&p=CB054_HUMAN&rb=74&re=365&var=P224L	NA	getma.org/?cm=var&var=hg19,2,241831024,G,A&fts=all	P224L	--	--	1																																		C2orf54_uc002wac.2_Missense_Mutation_p.P56L|C2orf54_uc002wad.2_Missense_Mutation_p.P75L	1	1		probably_damaging(0.938)	p.P224L	NM_001085437	NP_001078906		deleterious(0.01)	1	CB054_HUMAN	C2orf54	HGNC	Q08AI8	CB054_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	C9JP86_HUMAN,C9JEK0_HUMAN		2	830	-		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	UPI000049DF42	224					SNV	C2orf54,missense_variant,p.Pro75Leu,ENST00000307486,NM_001282921.1;C2orf54,missense_variant,p.Pro56Leu,ENST00000402775,NM_024861.2;C2orf54,missense_variant,p.Pro224Leu,ENST00000388934,NM_001085437.1;C2orf54,downstream_gene_variant,,ENST00000414499,;C2orf54,downstream_gene_variant,,ENST00000454476,;	uc002wae.3	c.671C>T	830/1911	1	1			c.671C>T						2	SNP	c.(670-672)CCT>CTT	58	58				0	Broad	hypothetical protein LOC79919 isoform 1			241831024		0.647	ENSG00000172478	2131	g.chr2:241831024G>A										-27.868977	KEEP	5	4	-1	93	123	5	4	-1	17.174317	93	123	0.040404	1	0	0	0	0	1	0	0	0	--	--		0	A			C2orf54_uc002wac.2_Missense_Mutation_p.P56L|C2orf54_uc002wad.2_Missense_Mutation_p.P75L	182	GBM-26-5133-TP	p.P224L	G	GCTGCCCTCAGGGAATCCGGG	NM_001085437	NP_001078906	241831024	Q08AI8	CB054_HUMAN	0		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	2	830	-	A	A		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	Missense_Mutation	224						
C2orf57			GRCh37	2	232457869	232457869	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000313965.2:c.207C>T	p.Asp69=	p.D69=	ENST00000313965	NM_152614.2	69	gaC/gaT	0																																																																																																																																																																																																																																												
C2orf62	0	broad.mit.edu	GRCh37	2	219222293	219222293	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01	TCGA-06-0158-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000289388.3:c.155C>T	p.Thr52Met	p.T52M	ENST00000289388	NM_198559.1	52	aCg/aTg	0	T:0.0002		1			T	T/M	uc002vhr.2	protein_coding	YES	CCDS2414.1			155/1164										0	c.(154-156)ACG>ATG			hmmpanther:PTHR15505,hmmpanther:PTHR15505:SF2	hypothetical protein LOC375307			T:0	ENSP00000289388		10-Mar	4.12E-05	9.73E-05				4.54E-05		6.09E-05	rs369378162,COSM2150139	10-Mar	.		ENST00000289388	Transcript						ENSG00000158428	g.chr2:219222293C>T	25062			MODERATE		2.075	medium	getma.org/?cm=msa&ty=f&p=CB062_HUMAN&rb=1&re=200&var=T52M	NA	getma.org/?cm=var&var=hg19,2,219222293,C,T&fts=all	T52M	--	--	1																																		C2orf62_uc002vhs.2_RNA	0,1	1		probably_damaging(0.959)	p.T52M	NM_198559	NP_940961		deleterious(0)	0,1	CB062_HUMAN	C2orf62	HGNC	Q7Z7H3	CB062_HUMAN		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)			3	184	+		Renal(207;0.0915)	UPI000019B2D3	52					SNV	C2orf62,missense_variant,p.Thr52Met,ENST00000289388,NM_198559.1;AC021016.8,intron_variant,,ENST00000411433,;C2orf62,upstream_gene_variant,,ENST00000481940,;C2orf62,non_coding_transcript_exon_variant,,ENST00000480532,;C2orf62,non_coding_transcript_exon_variant,,ENST00000495773,;AC021016.7,downstream_gene_variant,,ENST00000414167,;	uc002vhr.2	c.155C>T	184/1323	1	1			c.155C>T						2	SNP	c.(154-156)ACG>ATG	15	15				0	Broad	hypothetical protein LOC375307			219222293		0.577	ENSG00000158428	2137	g.chr2:219222293C>T										66.341315	KEEP	10	14	-1	16	21	10	14	-1	66.745377	16	21	0.407407	1	0	0	0	0	1	0	0	0	--	--		0	T			C2orf62_uc002vhs.2_RNA	29	GBM-06-0158-TP	p.T52M	C	TTCTCTGAGACGCTGGCCATG	NM_198559	NP_940961	219222293	Q7Z7H3	CB062_HUMAN	0		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	184	+	T	T		Renal(207;0.0915)	Missense_Mutation	52						
C2orf68	388969	broad.mit.edu	GRCh37	2	85836146	85836146	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306336.5:c.423G>A	p.Thr141=	p.T141=	ENST00000306336	NM_001013649.3	141	acG/acA	0			1			T	T	uc002sqc.2	protein_coding	YES	CCDS42704.1			423/501									central_nervous_system(1)	1	c.(421-423)ACG>ACA				hypothetical protein LOC388969				ENSP00000304410		4-Apr									rs746075456,COSM3408015	4-Apr	.		ENST00000306336	Transcript						ENSG00000168887	g.chr2:85836146C>T	34353			LOW								--	--	1																																		USP39_uc002sqb.2_Intron	0,1	1			p.T141T	NM_001013649	NP_001013671			0,1	CB068_HUMAN	C2orf68	HGNC	Q2NKX9	CB068_HUMAN			L7T9J5_HUMAN		4	495	-			UPI00002377B0	141					SNV	C2orf68,synonymous_variant,p.=,ENST00000306336,NM_001013649.3;USP39,upstream_gene_variant,,ENST00000450066,NM_001256728.1,NM_001256727.1;C2orf68,downstream_gene_variant,,ENST00000409734,;USP39,upstream_gene_variant,,ENST00000448971,;USP39,upstream_gene_variant,,ENST00000442708,;USP39,intron_variant,,ENST00000459775,;USP39,intron_variant,,ENST00000491659,;USP39,upstream_gene_variant,,ENST00000465282,;C2orf68,downstream_gene_variant,,ENST00000478626,;USP39,upstream_gene_variant,,ENST00000474572,;C2orf68,3_prime_UTR_variant,,ENST00000420686,;C2orf68,3_prime_UTR_variant,,ENST00000423181,;	uc002sqc.2	c.423G>A	468/2837	1	1			c.423G>A						2	SNP	c.(421-423)ACG>ACA	7	7			central_nervous_system(1)	1	Broad	hypothetical protein LOC388969			85836146		0.572	ENSG00000168887	2143	g.chr2:85836146C>T										156.050048	KEEP	35	19	-1	16	10	35	19	-1	158.032582	16	10	0.676056	1	0	0	0	0	0	0	1	0	--	--		0	T			USP39_uc002sqb.2_Intron	102	GBM-06-5858-TP	p.T141T	C	GATCCAGAGGCGTGTGTGCCG	NM_001013649	NP_001013671	85836146	Q2NKX9	CB068_HUMAN	0			4	495	-	T	T			Silent	141						
C2orf70	0	broad.mit.edu	GRCh37	2	26798883	26798883	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01	TCGA-26-5135-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329615.3:c.188C>T	p.Pro63Leu	p.P63L	ENST00000329615	NM_001105519.1	63	cCc/cTc	0			1			T	P/L	uc010eyn.2	protein_coding	YES	CCDS42661.1			188/606									skin(1)	1	c.(187-189)CCC>CTC			Pfam_domain:PF10629	hypothetical protein LOC339778				ENSP00000332875		4-Feb	8.26E-06			0.000116					rs758184713,COSM2157061	4-Feb	.		ENST00000329615	Transcript						ENSG00000173557	g.chr2:26798883C>T	27938			MODERATE		1.265	low	getma.org/?cm=msa&ty=f&p=CB070_HUMAN&rb=19&re=85&var=P63L	NA	getma.org/?cm=var&var=hg19,2,26798883,C,T&fts=all	P63L	--	--	1																																			0,1	1		benign(0.011)	p.P63L	NM_001105519	NP_001098989		tolerated(0.29)	0,1	CB070_HUMAN	C2orf70	HGNC	A6NJV1	CB070_HUMAN					2	188	+			UPI00001AFA74	63					SNV	C2orf70,missense_variant,p.Pro63Leu,ENST00000329615,NM_001105519.1;C2orf70,synonymous_variant,p.=,ENST00000409392,;C2orf70,upstream_gene_variant,,ENST00000453368,;C2orf70,non_coding_transcript_exon_variant,,ENST00000479453,;	uc010eyn.2	c.188C>T	219/731	2	2			c.188C>T						2	SNP	c.(187-189)CCC>CTC	17	17			skin(1)	1	Broad	hypothetical protein LOC339778			26798883		0.637	ENSG00000173557	2146	g.chr2:26798883C>T										195.143373	KEEP	36	37	-1	57	76	36	37	-1	198.345758	57	76	0.357542	1	0	0	0	0	1	0	0	0	--	--		0	T				184	GBM-26-5135-TP	p.P63L	C	AGCCACACTCCCTTCAGCCAA	NM_001105519	NP_001098989	26798883	A6NJV1	CB070_HUMAN	0			2	188	+	T	T			Missense_Mutation	63						
C2orf71	0	broad.mit.edu	GRCh37	2	29295647	29295649	+	inframe_deletion	In_Frame_Del	DEL	TCC	TCC	-			TCGA-14-0871-01	TCGA-14-0871-01	TCC	TCC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331664.5:c.1479_1481delGGA	p.Glu494del	p.E494del	ENST00000331664	NM_001029883.2	493	gaGGAa/gaa	0			1			-	EE/E	uc002rmt.1	protein_coding	YES	CCDS42669.1			1479-1481/3867									skin(1)	1	c.(1477-1482)GAGGAA>GAA			Low_complexity_(Seg):seg,hmmpanther:PTHR22017,Pfam_domain:PF15449	hypothetical protein LOC388939				ENSP00000332809		2-Jan	4.95E-05					6.03E-05		6.06E-05	rs757209597,COSM1246804	2-Jan	.		ENST00000331664	Transcript	1		response to stimulus|visual perception	photoreceptor outer segment		ENSG00000179270	g.chr2:29295647_29295649delTCC	34383			MODERATE								--	--	1																																			0,1	1			p.493_494EE>E	NM_001029883	NP_001025054			0,1	CB071_HUMAN	C2orf71	HGNC	A6NGG8	CB071_HUMAN					1	1479_1481	-			UPI0000251DD8	493_494					deletion	C2orf71,inframe_deletion,p.Glu494del,ENST00000331664,NM_001029883.2;	uc002rmt.1	c.1479_1481delGGA	1479-1481/7044	5	5			c.1479_1481delGGA						2	DEL	c.(1477-1482)GAGGAA>GAA	30	30			skin(1)	1	Broad	hypothetical protein LOC388939			29295649		0.542	ENSG00000179270	2147	g.chr2:29295647_29295649delTCC	response to stimulus|visual perception	photoreceptor outer segment																					0.02	1	1	0	1	0	0	0	0	0	--	--		0	-				141	GBM-14-0871-TP	p.493_494EE>E	TCC	CATTTTGTCTTCCTCCTCCTCCT	NM_001029883	NP_001025054	29295647	A6NGG8	CB071_HUMAN	0			1	1479_1481	-	-	-			In_Frame_Del	493_494						
C2orf78	388960	broad.mit.edu	GRCh37	2	74040759	74040759	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0145-01	TCGA-06-0145-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409561.1:c.253T>A	p.Ser85Thr	p.S85T	ENST00000409561	NM_001080474.1	85	Tct/Act	0			1			A	S/T	uc002sjr.1	protein_coding	YES	CCDS46338.1			253/2769									ovary(2)	2	c.(253-255)TCT>ACT			hmmpanther:PTHR31466,hmmpanther:PTHR31466:SF1	hypothetical protein LOC388960				ENSP00000387124		3-Feb										3-Feb	.		ENST00000409561	Transcript						ENSG00000187833	g.chr2:74040759T>A	34349			MODERATE		1.99	medium	getma.org/?cm=msa&ty=f&p=CB078_HUMAN&rb=7&re=920&var=S85T	NA	getma.org/?cm=var&var=hg19,2,74040759,T,A&fts=all	S85T	--	--	1																																				1		possibly_damaging(0.858)	p.S85T	NM_001080474	NP_001073943		tolerated(0.18)		CB078_HUMAN	C2orf78	HGNC	A6NCI8	CB078_HUMAN					2	374	+			UPI000015FD87	85			Ser-rich.		SNV	C2orf78,missense_variant,p.Ser85Thr,ENST00000409561,NM_001080474.1;	uc002sjr.1	c.253T>A	374/3045	2	2			c.253T>A						2	SNP	c.(253-255)TCT>ACT	29	29			ovary(2)	2	Broad	hypothetical protein LOC388960			74040759		0.527	ENSG00000187833	2151	g.chr2:74040759T>A										-6.820149	KEEP	3	0	-1	49	24	3	0	-1	6.340154	49	24	0.04918	1	0	0	0	0	1	0	0	0	--	--		0	A				23	GBM-06-0145-TP	p.S85T	T	GCCATCAGCCTCTGGCACCTC	NM_001080474	NP_001073943	74040759	A6NCI8	CB078_HUMAN	0			2	374	+	A	A			Missense_Mutation	85			Ser-rich.			
C2orf78	388960	broad.mit.edu	GRCh37	2	74042973	74042973	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0744-01	TCGA-06-0744-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409561.1:c.1623C>T	p.Ser541=	p.S541=	ENST00000409561	NM_001080474.1	541	agC/agT	0	T:0		1			T	S	uc002sjr.1	protein_coding	YES	CCDS46338.1			1623/2769									ovary(2)	2	c.(1621-1623)AGC>AGT			Pfam_domain:PF15442,hmmpanther:PTHR31466,hmmpanther:PTHR31466:SF1	hypothetical protein LOC388960			T:0.0001	ENSP00000387124		3-Mar	5.79E-05					0.000107			rs373917345,COSM2151684,COSM2151683	3-Mar	.		ENST00000409561	Transcript						ENSG00000187833	g.chr2:74042973C>T	34349			LOW								--	--	1																																			0,1,1	1			p.S541S	NM_001080474	NP_001073943			0,1,1	CB078_HUMAN	C2orf78	HGNC	A6NCI8	CB078_HUMAN					3	1744	+			UPI000015FD87	541					SNV	C2orf78,synonymous_variant,p.=,ENST00000409561,NM_001080474.1;	uc002sjr.1	c.1623C>T	1744/3045	2	2			c.1623C>T						2	SNP	c.(1621-1623)AGC>AGT	41	41			ovary(2)	2	Broad	hypothetical protein LOC388960			74042973		0.502	ENSG00000187833	2151	g.chr2:74042973C>T										69.12183	KEEP	14	9	-1	10	12	14	9	-1	69.126617	10	12	0.511111	1	0	0	0	0	0	0	1	0	--	--		0	T				66	GBM-06-0744-TP	p.S541S	C	TCAGTAACAGCGCTTCTGTGA	NM_001080474	NP_001073943	74042973	A6NCI8	CB078_HUMAN	0			3	1744	+	T	T			Silent	541						
C2orf80	0	broad.mit.edu	GRCh37	2	209036767	209036767	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-1986-01	TCGA-32-1986-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341287.4:c.399G>A	p.Leu133=	p.L133=	ENST00000341287	NM_001099334.2	133	ttG/ttA	0			1			T	L	uc002vcr.2	protein_coding	YES	CCDS42809.1			399/582									skin(1)	1	c.(397-399)TTG>TTA				hypothetical protein LOC389073				ENSP00000343171		9-Jul									COSM3407524	9-Jul	.		ENST00000341287	Transcript						ENSG00000188674	g.chr2:209036767C>T	34352			LOW								--	--	1																																			1	1			p.L133L	NM_001099334	NP_001092804			1	CB080_HUMAN	C2orf80	HGNC	Q0P641	CB080_HUMAN			C9JTX0_HUMAN,C9JAS9_HUMAN		7	571	-			UPI00001D7E1A	133					SNV	C2orf80,synonymous_variant,p.=,ENST00000341287,NM_001099334.2;C2orf80,synonymous_variant,p.=,ENST00000451346,;C2orf80,synonymous_variant,p.=,ENST00000451342,;C2orf80,synonymous_variant,p.=,ENST00000428015,;C2orf80,synonymous_variant,p.=,ENST00000423952,;C2orf80,intron_variant,,ENST00000453017,;	uc002vcr.2	c.399G>A	595/1238	1	1			c.399G>A						2	SNP	c.(397-399)TTG>TTA	7	7			skin(1)	1	Broad	hypothetical protein LOC389073			209036767		0.478	ENSG00000188674	2153	g.chr2:209036767C>T										187.012355	KEEP	58	41	-1	166	182	58	41	-1	216.642713	166	182	0.216958	1	0	0	0	0	0	0	1	0	--	--		0	T				233	GBM-32-1986-TP	p.L133L	C	CAAAGGGGTGCAAGGAGAGGC	NM_001099334	NP_001092804	209036767	Q0P641	CB080_HUMAN	0			7	571	-	T	T			Silent	133						
SLC19A4P	0	broad.mit.edu	GRCh37	2	228476292	228476292	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-41-3392-01	TCGA-41-3392-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264387.4:c.271A>T	p.Ile91Phe	p.I91F	ENST00000264387	NM_020161.3	91	Att/Ttt	0			1			A	I/F	uc002vph.2	protein_coding	YES	CCDS33388.1			271/453										0	c.(271-273)ATT>TTT			hmmpanther:PTHR10686,hmmpanther:PTHR10686:SF11	hypothetical protein LOC56918 isoform 1				ENSP00000264387		3-Mar									COSM3407635	3-Mar	.		ENST00000264387	Transcript				membrane	folic acid binding|reduced folate carrier activity	ENSG00000042304	g.chr2:228476292T>A	25344			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CB083_HUMAN&rb=43&re=150&var=I91F	NA	getma.org/?cm=var&var=hg19,2,228476292,T,A&fts=all	I91F	--	--	1																																		C2orf83_uc010zlu.1_3'UTR	1	1		unknown(0)	p.I91F	NM_020161	NP_064546		deleterious_low_confidence(0.03)	1	CB083_HUMAN	C2orf83	HGNC	Q53S99	CB083_HUMAN					3	506	-			UPI0000456F18	91					SNV	C2orf83,missense_variant,p.Ile91Phe,ENST00000264387,NM_020161.3;C2orf83,3_prime_UTR_variant,,ENST00000409066,NM_001162483.1;	uc002vph.2	c.271A>T	358/1844	2	2			c.271A>T						2	SNP	c.(271-273)ATT>TTT	17	17				0	Broad	hypothetical protein LOC56918 isoform 1			228476292		0.517	ENSG00000042304	2154	g.chr2:228476292T>A		membrane	folic acid binding|reduced folate carrier activity							11.857688	KEEP	6	6	-1	47	54	6	6	-1	29.42345	47	54	0.1	1	0	0	0	0	1	0	0	0	--	--		0	A			C2orf83_uc010zlu.1_3'UTR	254	GBM-41-3392-TP	p.I91F	T	GCAGGGTGAATGAAGGTCAGC	NM_020161	NP_064546	228476292	Q53S99	CB083_HUMAN	0			3	506	-	A	A			Missense_Mutation	91						
C3	718	broad.mit.edu	GRCh37	19	6711035	6711035	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-2483-01	TCGA-02-2483-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245907.6:c.1442G>A	p.Arg481His	p.R481H	ENST00000245907	NM_000064.2	481	cGc/cAc	0			1			T	R/H	uc002mfm.2	protein_coding	YES	CCDS32883.1			1442/4992									skin(3)|ovary(1)|pancreas(1)	5	c.(1441-1443)CGC>CAC			Pfam_domain:PF07703,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF81	complement component 3 precursor				ENSP00000245907		Dec-41	8.24E-06					1.50E-05			rs758391076,COSM3404757	Dec-41	.		ENST00000245907	Transcript	1		complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	ENSG00000125730	g.chr19:6711035C>T	1318			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=CO3_HUMAN&rb=456&re=605&var=R481H	getma.org/pdb.php?prot=CO3_HUMAN&from=456&to=605&var=R481H	getma.org/?cm=var&var=hg19,19,6711035,C,T&fts=all	R481H	--	--	1																																			0,1	1		benign(0.005)	p.R481H	NM_000064	NP_000055		tolerated(0.12)	0,1	CO3_HUMAN	C3	HGNC	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Q6LDJ0_HUMAN,M0R1Q1_HUMAN		12	1504	-			UPI000013EC9B	481					SNV	C3,missense_variant,p.Arg481His,ENST00000245907,NM_000064.2;C3,downstream_gene_variant,,ENST00000597442,;C3,downstream_gene_variant,,ENST00000594270,;C3,downstream_gene_variant,,ENST00000595577,;C3,upstream_gene_variant,,ENST00000600763,;	uc002mfm.2	c.1442G>A	1535/5263	1	1			c.1442G>A						19	SNP	c.(1441-1443)CGC>CAC	11	11			skin(3)|ovary(1)|pancreas(1)	5	Broad	complement component 3 precursor			6711035		0.607	ENSG00000125730	2160	g.chr19:6711035C>T	complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding							-11.954994	KEEP	8	10	-1	116	139	8	10	-1	34.925059	116	139	0.069388	1	0	0	0	0	1	0	0	0	--	--		0	T				6	GBM-02-2483-TP	p.R481H	C	CTCGTGGGCGCGGTCCATTCG	NM_000064	NP_000055	6711035	P01024	CO3_HUMAN	0		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	12	1504	-	T	T			Missense_Mutation	481						
C3	718	broad.mit.edu	GRCh37	19	6677935	6677935	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0649-01	TCGA-06-0649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245907.6:c.4950C>T	p.Gly1650=	p.G1650=	ENST00000245907	NM_000064.2	1650	ggC/ggT	0			1			A	G	uc002mfm.2	protein_coding	YES	CCDS32883.1			4950/4992									skin(3)|ovary(1)|pancreas(1)	5	c.(4948-4950)GGC>GGT			PROSITE_profiles:PS50189,Superfamily_domains:SSF50242	complement component 3 precursor				ENSP00000245907		41/41	8.24E-06					1.50E-05			rs757774081,COSM2151452	41/41	.		ENST00000245907	Transcript	1		complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	ENSG00000125730	g.chr19:6677935G>A	1318			LOW								--	--	1																																		C3_uc002mfl.2_Silent_p.G386G	0,1	1			p.G1650G	NM_000064	NP_000055			0,1	CO3_HUMAN	C3	HGNC	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Q6LDJ0_HUMAN,M0R1Q1_HUMAN		41	5012	-			UPI000013EC9B	1650			NTR.		SNV	C3,synonymous_variant,p.=,ENST00000245907,NM_000064.2;C3,synonymous_variant,p.=,ENST00000601008,;C3,3_prime_UTR_variant,,ENST00000602229,;C3,downstream_gene_variant,,ENST00000596548,;C3,non_coding_transcript_exon_variant,,ENST00000599668,;C3,non_coding_transcript_exon_variant,,ENST00000599899,;C3,non_coding_transcript_exon_variant,,ENST00000601475,;	uc002mfm.2	c.4950C>T	5043/5263	2	2			c.4950C>T						19	SNP	c.(4948-4950)GGC>GGT	42	42			skin(3)|ovary(1)|pancreas(1)	5	Broad	complement component 3 precursor			6677935		0.562	ENSG00000125730	2160	g.chr19:6677935G>A	complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding							72.656661	KEEP	24	9	-1	42	28	24	9	-1	75.277969	42	28	0.326531	1	0	0	0	0	0	0	1	0	--	--		0	A			C3_uc002mfl.2_Silent_p.G386G	62	GBM-06-0649-TP	p.G1650G	G	CGGTGAAGGCGCCGAGGTCCT	NM_000064	NP_000055	6677935	P01024	CO3_HUMAN	0		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	41	5012	-	A	A			Silent	1650			NTR.			
C3	718	broad.mit.edu	GRCh37	19	6714208	6714208	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-06-0745-01	TCGA-06-0745-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245907.6:c.651C>G	p.Val217=	p.V217=	ENST00000245907	NM_000064.2	217	gtC/gtG	0			1			C	V	uc002mfm.2	protein_coding	YES	CCDS32883.1			651/4992									skin(3)|ovary(1)|pancreas(1)	5	c.(649-651)GTC>GTG			Pfam_domain:PF01835,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF81	complement component 3 precursor				ENSP00000245907		Jun-41									COSM2151760	Jun-41	.		ENST00000245907	Transcript	1		complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	ENSG00000125730	g.chr19:6714208G>C	1318			LOW								--	--	1																																			1	1			p.V217V	NM_000064	NP_000055			1	CO3_HUMAN	C3	HGNC	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Q6LDJ0_HUMAN,M0R1Q1_HUMAN		6	713	-			UPI000013EC9B	217					SNV	C3,synonymous_variant,p.=,ENST00000245907,NM_000064.2;C3,downstream_gene_variant,,ENST00000600744,;C3,upstream_gene_variant,,ENST00000597442,;C3,upstream_gene_variant,,ENST00000594270,;C3,non_coding_transcript_exon_variant,,ENST00000595577,;C3,downstream_gene_variant,,ENST00000594936,;C3,upstream_gene_variant,,ENST00000600763,;	uc002mfm.2	c.651C>G	744/5263	4	4			c.651C>G						19	SNP	c.(649-651)GTC>GTG	45	45			skin(3)|ovary(1)|pancreas(1)	5	Broad	complement component 3 precursor			6714208		0.632	ENSG00000125730	2160	g.chr19:6714208G>C	complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding							98.149685	KEEP	15	15	-1	37	25	15	15	-1	100.044326	37	25	0.341176	1	0	0	0	0	0	0	1	0	--	--		0	C				67	GBM-06-0745-TP	p.V217V	G	CAGTGGAGAAGACCTGCTGTG	NM_000064	NP_000055	6714208	P01024	CO3_HUMAN	0		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	6	713	-	C	C			Silent	217						
C3	718	broad.mit.edu	GRCh37	19	6680227	6680227	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0877-01	TCGA-06-0877-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245907.6:c.4398C>A	p.Tyr1466Ter	p.Y1466*	ENST00000245907	NM_000064.2	1466	taC/taA	0			1			T	Y/*	uc002mfm.2	protein_coding	YES	CCDS32883.1			4398/4992									skin(3)|ovary(1)|pancreas(1)	5	c.(4396-4398)TAC>TAA			Gene3D:1ayoA00,Pfam_domain:PF07677,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF81,Superfamily_domains:SSF49410	complement component 3 precursor				ENSP00000245907		36/41									COSM279391	36/41	.		ENST00000245907	Transcript	1		complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	ENSG00000125730	g.chr19:6680227G>T	1318			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,19,6680227,G,T&fts=all	Y1466*	--	--	1																																		C3_uc002mfl.2_Nonsense_Mutation_p.Y202*	1	1			p.Y1466*	NM_000064	NP_000055			1	CO3_HUMAN	C3	HGNC	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Q6LDJ0_HUMAN,M0R1Q1_HUMAN		36	4460	-			UPI000013EC9B	1466					SNV	C3,stop_gained,p.Tyr1466Ter,ENST00000245907,NM_000064.2;C3,stop_gained,p.Tyr173Ter,ENST00000596548,;C3,intron_variant,,ENST00000601008,;C3,upstream_gene_variant,,ENST00000602229,;C3,upstream_gene_variant,,ENST00000599668,;C3,non_coding_transcript_exon_variant,,ENST00000599899,;C3,downstream_gene_variant,,ENST00000596238,;C3,upstream_gene_variant,,ENST00000601475,;C3,downstream_gene_variant,,ENST00000596179,;	uc002mfm.2	c.4398C>A	4491/5263	5	2			c.4398C>A						19	SNP	c.(4396-4398)TAC>TAA	20	20			skin(3)|ovary(1)|pancreas(1)	5	Broad	complement component 3 precursor			6680227		0.542	ENSG00000125730	2160	g.chr19:6680227G>T	complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding							125.494865	KEEP	32	20	0.615384615	89	84	32	20	0.615384615	138.594652	89	84	0.236715	1	0	0	0	0	0	1	0	0	--	--		0	T			C3_uc002mfl.2_Nonsense_Mutation_p.Y202*	73	GBM-06-0877-TP	p.Y1466*	G	CTACATTAAAGTATTGGTGAA	NM_000064	NP_000055	6680227	P01024	CO3_HUMAN	0		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	36	4460	-	T	T			Nonsense_Mutation	1466						
C3	0	broad.mit.edu	GRCh37	19	6681977	6681977	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-27-2528-01	TCGA-27-2528-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245907.6:c.4325A>C	p.Asn1442Thr	p.N1442T	ENST00000245907	NM_000064.2	1442	aAc/aCc	0			1			G	N/T	uc002mfm.2	protein_coding	YES	CCDS32883.1			4325/4992									skin(3)|ovary(1)|pancreas(1)	5	c.(4324-4326)AAC>ACC			Gene3D:1ayoA00,Pfam_domain:PF07677,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF81,Superfamily_domains:SSF49410	complement component 3 precursor				ENSP00000245907		35/41									COSM3748078	35/41	.		ENST00000245907	Transcript	1		complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	ENSG00000125730	g.chr19:6681977T>G	1318			MODERATE		3.005	medium	getma.org/?cm=msa&ty=f&p=CO3_HUMAN&rb=1398&re=1493&var=N1442T	getma.org/pdb.php?prot=CO3_HUMAN&from=1398&to=1493&var=N1442T	getma.org/?cm=var&var=hg19,19,6681977,T,G&fts=all	N1442T	--	--	1																																		C3_uc002mfl.2_Missense_Mutation_p.N178T	1	1		benign(0.403)	p.N1442T	NM_000064	NP_000055		deleterious(0.02)	1	CO3_HUMAN	C3	HGNC	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Q6LDJ0_HUMAN,M0R1Q1_HUMAN		35	4387	-			UPI000013EC9B	1442			Properdin-binding.		SNV	C3,missense_variant,p.Asn1442Thr,ENST00000245907,NM_000064.2;C3,missense_variant,p.Asn149Thr,ENST00000596548,;C3,intron_variant,,ENST00000601008,;C3,upstream_gene_variant,,ENST00000602229,;C3,upstream_gene_variant,,ENST00000599668,;C3,non_coding_transcript_exon_variant,,ENST00000599899,;C3,downstream_gene_variant,,ENST00000598805,;C3,downstream_gene_variant,,ENST00000596238,;C3,upstream_gene_variant,,ENST00000601475,;C3,downstream_gene_variant,,ENST00000596179,;	uc002mfm.2	c.4325A>C	4418/5263	3	3			c.4325A>C						19	SNP	c.(4324-4326)AAC>ACC	55	55			skin(3)|ovary(1)|pancreas(1)	5	Broad	complement component 3 precursor			6681977		0.532	ENSG00000125730	2160	g.chr19:6681977T>G	complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding							202.571685	KEEP	44	39	-1	136	142	44	39	-1	221.763751	136	142	0.240385	1	0	0	0	0	1	0	0	0	--	--		0	G			C3_uc002mfl.2_Missense_Mutation_p.N178T	205	GBM-27-2528-TP	p.N1442T	T	GATGAGGGTGTTCCTATCGGA	NM_000064	NP_000055	6681977	P01024	CO3_HUMAN	0		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	35	4387	-	G	G			Missense_Mutation	1442			Properdin-binding.			
C3	718		GRCh37	19	6680198	6680198	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000245907.6:c.4427C>A	p.Ala1476Glu	p.A1476E	ENST00000245907	NM_000064.2	1476	gCa/gAa	0																																																																																																																																																																																																																																												
C3AR1	0	broad.mit.edu	GRCh37	12	8211864	8211864	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-1835-01	TCGA-27-1835-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307637.4:c.918C>T	p.Tyr306=	p.Y306=	ENST00000307637	NM_004054.2	306	taC/taT	0			1			A	Y	uc001qtv.1	protein_coding	YES	CCDS8588.1			918/1449									ovary(1)	1	c.(916-918)TAC>TAT			PROSITE_profiles:PS50262,hmmpanther:PTHR24225:SF4,hmmpanther:PTHR24225	complement component 3a receptor 1				ENSP00000302079		2-Feb	8.24E-06					1.50E-05			rs758204041,COSM2157272	2-Feb	.		ENST00000307637	Transcript			blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	ENSG00000171860	g.chr12:8211864G>A	1319			LOW								--	--	1																																			0,1	1			p.Y306Y	NM_004054	NP_004045			0,1	C3AR_HUMAN	C3AR1	HGNC	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	F5GZE6_HUMAN,A8K2H7_HUMAN		2	1010	-			UPI0000001066	306			Extracellular (Potential).		SNV	C3AR1,synonymous_variant,p.=,ENST00000307637,NM_004054.2;FOXJ2,downstream_gene_variant,,ENST00000162391,NM_018416.2;C3AR1,downstream_gene_variant,,ENST00000546241,;	uc001qtv.1	c.918C>T	1122/2088	2	2			c.918C>T						12	SNP	c.(916-918)TAC>TAT	30	30			ovary(1)	1	Broad	complement component 3a receptor 1			8211864		0.438	ENSG00000171860	2161	g.chr12:8211864G>A	blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity							187.783119	KEEP	31	38	-1	40	39	31	38	-1	187.912073	40	39	0.467153	1	0	0	0	0	0	0	1	0	--	--		0	A				194	GBM-27-1835-TP	p.Y306Y	G	GCTCAGACTCGTAGAAGGAAT	NM_004054	NP_004045	8211864	Q16581	C3AR_HUMAN	0		Kidney(36;0.0893)	2	1010	-	A	A			Silent	306			Extracellular (Potential).			
C3AR1	0	broad.mit.edu	GRCh37	12	8212173	8212173	+	synonymous_variant	Silent	SNP	C	C	T	rs138822577		TCGA-32-5222-01	TCGA-32-5222-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307637.4:c.609G>A	p.Pro203=	p.P203=	ENST00000307637	NM_004054.2	203	ccG/ccA	0	A:0	T:0	1	T:0		T	P	uc001qtv.1	protein_coding	YES	CCDS8588.1			609/1449									ovary(1)	1	c.(607-609)CCG>CCA			PROSITE_profiles:PS50262,hmmpanther:PTHR24225:SF4,hmmpanther:PTHR24225	complement component 3a receptor 1		T:0	A:0.0001	ENSP00000302079	T:0	2-Feb	0.000231					6.03E-05		0.00145	rs138822577,COSM1993728	2-Feb	common_variant		ENST00000307637	Transcript			blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	ENSG00000171860	g.chr12:8212173C>T	1319			LOW								--	--	1																																			0,1	1			p.P203P	NM_004054	NP_004045	T:0.002		0,1	C3AR_HUMAN	C3AR1	HGNC	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	F5GZE6_HUMAN,A8K2H7_HUMAN		2	701	-			UPI0000001066	203	P -> R (in Ref. 1; AAC50374).		Extracellular (Potential).		SNV	C3AR1,synonymous_variant,p.=,ENST00000307637,NM_004054.2;FOXJ2,downstream_gene_variant,,ENST00000162391,NM_018416.2;C3AR1,downstream_gene_variant,,ENST00000546241,;	uc001qtv.1	c.609G>A	813/2088	2	2			c.609G>A						12	SNP	c.(607-609)CCG>CCA	32	32			ovary(1)	1	Broad	complement component 3a receptor 1			8212173		0.408	ENSG00000171860	2161	g.chr12:8212173C>T	blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity							-72.899242	KEEP	6	8	-1	204	227	6	8	-1	23.113838	204	227	0.032338	1	0	0	0	0	0	0	1	0	--	--		0	T				249	GBM-32-5222-TP	p.P203P	C	TTTCTCCAGGCGGCTGAACAA	NM_004054	NP_004045	8212173	Q16581	C3AR_HUMAN	0		Kidney(36;0.0893)	2	701	-	T	T			Silent	203	P -> R (in Ref. 1; AAC50374).		Extracellular (Potential).			
C3orf17	0	broad.mit.edu	GRCh37	3	112738408	112738408	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0214-01	TCGA-06-0214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314400.5:c.87G>A	p.Gln29=	p.Q29=	ENST00000314400	NM_015412.3	29	caG/caA	0			1			T	Q	uc003dzr.2	protein_coding	YES	CCDS33824.1			87/1704										0	c.(85-87)CAG>CAA			Pfam_domain:PF14780	hypothetical protein LOC25871				ENSP00000320251		9-Jan									COSM3408140	9-Jan	.		ENST00000314400	Transcript				integral to membrane		ENSG00000163608	g.chr3:112738408C>T	24496			LOW								--	--	1																																		C3orf17_uc011bhz.1_5'UTR|C3orf17_uc010hqh.2_5'UTR|C3orf17_uc003dzt.2_5'UTR|C3orf17_uc003dzs.2_5'UTR|C3orf17_uc010hqg.2_5'UTR|C3orf17_uc011bia.1_5'UTR|C3orf17_uc003dzu.2_Silent_p.Q28Q|C3orf17_uc011bib.1_5'UTR|C3orf17_uc011bic.1_5'UTR|C3orf17_uc011bid.1_RNA	1	1			p.Q29Q	NM_015412	NP_056227			1	CC017_HUMAN	C3orf17	HGNC	Q6NW34	CC017_HUMAN			C9J9E3_HUMAN,A8MVI8_HUMAN		1	148	-			UPI0000367197	29					SNV	C3orf17,synonymous_variant,p.=,ENST00000314400,NM_015412.3;C3orf17,synonymous_variant,p.=,ENST00000383675,;C3orf17,5_prime_UTR_variant,,ENST00000393857,;C3orf17,upstream_gene_variant,,ENST00000472166,;RP11-572M11.4,non_coding_transcript_exon_variant,,ENST00000460707,;RP11-572M11.4,non_coding_transcript_exon_variant,,ENST00000496389,;RP11-572M11.4,non_coding_transcript_exon_variant,,ENST00000467342,;RP11-572M11.4,non_coding_transcript_exon_variant,,ENST00000470313,;C3orf17,non_coding_transcript_exon_variant,,ENST00000494575,;C3orf17,synonymous_variant,p.=,ENST00000472637,;C3orf17,synonymous_variant,p.=,ENST00000473284,;C3orf17,synonymous_variant,p.=,ENST00000469169,;C3orf17,synonymous_variant,p.=,ENST00000489848,;C3orf17,synonymous_variant,p.=,ENST00000469809,;C3orf17,synonymous_variant,p.=,ENST00000462295,;C3orf17,synonymous_variant,p.=,ENST00000472705,;C3orf17,synonymous_variant,p.=,ENST00000461381,;C3orf17,synonymous_variant,p.=,ENST00000460410,;C3orf17,synonymous_variant,p.=,ENST00000496206,;C3orf17,synonymous_variant,p.=,ENST00000494164,;C3orf17,synonymous_variant,p.=,ENST00000491121,;C3orf17,synonymous_variant,p.=,ENST00000470663,;C3orf17,synonymous_variant,p.=,ENST00000496340,;C3orf17,non_coding_transcript_exon_variant,,ENST00000486271,;C3orf17,non_coding_transcript_exon_variant,,ENST00000494891,;GTPBP8,downstream_gene_variant,,ENST00000485330,;	uc003dzr.2	c.87G>A	279/4992	2	2			c.87G>A						3	SNP	c.(85-87)CAG>CAA	33	33				0	Broad	hypothetical protein LOC25871			112738408		0.731	ENSG00000163608	2166	g.chr3:112738408C>T		integral to membrane								8.280636	KEEP	3	4	-1	35	25	3	4	-1	16.956643	35	25	0.116667	1	0	0	0	0	0	0	1	0	--	--		0	T			C3orf17_uc011bhz.1_5'UTR|C3orf17_uc010hqh.2_5'UTR|C3orf17_uc003dzt.2_5'UTR|C3orf17_uc003dzs.2_5'UTR|C3orf17_uc010hqg.2_5'UTR|C3orf17_uc011bia.1_5'UTR|C3orf17_uc003dzu.2_Silent_p.Q28Q|C3orf17_uc011bib.1_5'UTR|C3orf17_uc011bic.1_5'UTR|C3orf17_uc011bid.1_RNA	50	GBM-06-0214-TP	p.Q29Q	C	CGCCGGGGTTCTGCACTGTCA	NM_015412	NP_056227	112738408	Q6NW34	CC017_HUMAN	0			1	148	-	T	T			Silent	29						
C3orf17	0	broad.mit.edu	GRCh37	3	112738411	112738411	+	synonymous_variant	Silent	SNP	C	C	T	rs144842364	byFrequency	TCGA-06-0214-01	TCGA-06-0214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314400.5:c.84G>A	p.Val28=	p.V28=	ENST00000314400	NM_015412.3	28	gtG/gtA	0	T:0.0005	T:0	1	T:0		T	V	uc003dzr.2	protein_coding	YES	CCDS33824.1			84/1704										0	c.(82-84)GTG>GTA			Pfam_domain:PF14780	hypothetical protein LOC25871		T:0	T:0.0043	ENSP00000320251	T:0.003	9-Jan	0.00256	0.000334	0.000267		0.0038	0.00436	0.00369	0.000309	rs144842364,COSM3408141	9-Jan	common_variant		ENST00000314400	Transcript		T:0.0006		integral to membrane		ENSG00000163608	g.chr3:112738411C>T	24496			LOW								--	--	1																																		C3orf17_uc011bhz.1_5'UTR|C3orf17_uc010hqh.2_5'UTR|C3orf17_uc003dzt.2_5'UTR|C3orf17_uc003dzs.2_5'UTR|C3orf17_uc010hqg.2_5'UTR|C3orf17_uc011bia.1_5'UTR|C3orf17_uc003dzu.2_Silent_p.V27V|C3orf17_uc011bib.1_5'UTR|C3orf17_uc011bic.1_5'UTR|C3orf17_uc011bid.1_RNA	0,1	1			p.V28V	NM_015412	NP_056227	T:0		0,1	CC017_HUMAN	C3orf17	HGNC	Q6NW34	CC017_HUMAN			C9J9E3_HUMAN,A8MVI8_HUMAN		1	145	-			UPI0000367197	28					SNV	C3orf17,synonymous_variant,p.=,ENST00000314400,NM_015412.3;C3orf17,synonymous_variant,p.=,ENST00000383675,;C3orf17,5_prime_UTR_variant,,ENST00000393857,;C3orf17,upstream_gene_variant,,ENST00000472166,;RP11-572M11.4,non_coding_transcript_exon_variant,,ENST00000460707,;RP11-572M11.4,non_coding_transcript_exon_variant,,ENST00000496389,;RP11-572M11.4,non_coding_transcript_exon_variant,,ENST00000467342,;RP11-572M11.4,non_coding_transcript_exon_variant,,ENST00000470313,;C3orf17,non_coding_transcript_exon_variant,,ENST00000494575,;C3orf17,synonymous_variant,p.=,ENST00000472637,;C3orf17,synonymous_variant,p.=,ENST00000473284,;C3orf17,synonymous_variant,p.=,ENST00000469169,;C3orf17,synonymous_variant,p.=,ENST00000489848,;C3orf17,synonymous_variant,p.=,ENST00000469809,;C3orf17,synonymous_variant,p.=,ENST00000462295,;C3orf17,synonymous_variant,p.=,ENST00000472705,;C3orf17,synonymous_variant,p.=,ENST00000461381,;C3orf17,synonymous_variant,p.=,ENST00000460410,;C3orf17,synonymous_variant,p.=,ENST00000496206,;C3orf17,synonymous_variant,p.=,ENST00000494164,;C3orf17,synonymous_variant,p.=,ENST00000491121,;C3orf17,synonymous_variant,p.=,ENST00000470663,;C3orf17,synonymous_variant,p.=,ENST00000496340,;C3orf17,non_coding_transcript_exon_variant,,ENST00000486271,;C3orf17,non_coding_transcript_exon_variant,,ENST00000494891,;GTPBP8,downstream_gene_variant,,ENST00000485330,;	uc003dzr.2	c.84G>A	276/4992	2	2			c.84G>A						3	SNP	c.(82-84)GTG>GTA	25	25				0	Broad	hypothetical protein LOC25871			112738411		0.726	ENSG00000163608	2166	g.chr3:112738411C>T		integral to membrane								6.499966	KEEP	3	4	-1	35	24	3	4	-1	15.162127	35	24	0.116667	1	0	0	0	0	0	0	1	0	--	--		0	T			C3orf17_uc011bhz.1_5'UTR|C3orf17_uc010hqh.2_5'UTR|C3orf17_uc003dzt.2_5'UTR|C3orf17_uc003dzs.2_5'UTR|C3orf17_uc010hqg.2_5'UTR|C3orf17_uc011bia.1_5'UTR|C3orf17_uc003dzu.2_Silent_p.V27V|C3orf17_uc011bib.1_5'UTR|C3orf17_uc011bic.1_5'UTR|C3orf17_uc011bid.1_RNA	50	GBM-06-0214-TP	p.V28V	C	CGGGGTTCTGCACTGTCACTG	NM_015412	NP_056227	112738411	Q6NW34	CC017_HUMAN	0			1	145	-	T	T			Silent	28						
C3orf17	0	broad.mit.edu	GRCh37	3	112738459	112738459	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0214-01	TCGA-06-0214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314400.5:c.36G>A	p.Trp12Ter	p.W12*	ENST00000314400	NM_015412.3	12	tgG/tgA	0			1			T	W/*	uc003dzr.2	protein_coding	YES	CCDS33824.1			36/1704										0	c.(34-36)TGG>TGA			Pfam_domain:PF14780	hypothetical protein LOC25871				ENSP00000320251		9-Jan									COSM3408142	9-Jan	.		ENST00000314400	Transcript				integral to membrane		ENSG00000163608	g.chr3:112738459C>T	24496			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,3,112738459,C,T&fts=all	W12*	--	--	1																																		C3orf17_uc011bhz.1_5'UTR|C3orf17_uc010hqh.2_5'UTR|C3orf17_uc003dzt.2_5'UTR|C3orf17_uc003dzs.2_5'UTR|C3orf17_uc010hqg.2_5'UTR|C3orf17_uc011bia.1_5'UTR|C3orf17_uc003dzu.2_Nonsense_Mutation_p.W11*|C3orf17_uc011bib.1_5'UTR|C3orf17_uc011bic.1_5'UTR|C3orf17_uc011bid.1_RNA	1	1			p.W12*	NM_015412	NP_056227			1	CC017_HUMAN	C3orf17	HGNC	Q6NW34	CC017_HUMAN			C9J9E3_HUMAN,A8MVI8_HUMAN		1	97	-			UPI0000367197	12					SNV	C3orf17,stop_gained,p.Trp12Ter,ENST00000314400,NM_015412.3;C3orf17,stop_gained,p.Trp12Ter,ENST00000383675,;C3orf17,5_prime_UTR_variant,,ENST00000393857,;C3orf17,upstream_gene_variant,,ENST00000472166,;RP11-572M11.4,non_coding_transcript_exon_variant,,ENST00000460707,;RP11-572M11.4,non_coding_transcript_exon_variant,,ENST00000496389,;RP11-572M11.4,non_coding_transcript_exon_variant,,ENST00000467342,;RP11-572M11.4,non_coding_transcript_exon_variant,,ENST00000470313,;C3orf17,non_coding_transcript_exon_variant,,ENST00000494575,;C3orf17,stop_gained,p.Trp12Ter,ENST00000472637,;C3orf17,stop_gained,p.Trp12Ter,ENST00000473284,;C3orf17,stop_gained,p.Trp12Ter,ENST00000469169,;C3orf17,stop_gained,p.Trp12Ter,ENST00000489848,;C3orf17,stop_gained,p.Trp12Ter,ENST00000469809,;C3orf17,stop_gained,p.Trp12Ter,ENST00000462295,;C3orf17,stop_gained,p.Trp12Ter,ENST00000472705,;C3orf17,stop_gained,p.Trp12Ter,ENST00000461381,;C3orf17,stop_gained,p.Trp12Ter,ENST00000460410,;C3orf17,stop_gained,p.Trp11Ter,ENST00000496206,;C3orf17,stop_gained,p.Trp12Ter,ENST00000494164,;C3orf17,stop_gained,p.Trp12Ter,ENST00000491121,;C3orf17,stop_gained,p.Trp12Ter,ENST00000470663,;C3orf17,stop_gained,p.Trp12Ter,ENST00000496340,;C3orf17,non_coding_transcript_exon_variant,,ENST00000486271,;GTPBP8,downstream_gene_variant,,ENST00000485330,;C3orf17,upstream_gene_variant,,ENST00000494891,;	uc003dzr.2	c.36G>A	228/4992	5	2			c.36G>A						3	SNP	c.(34-36)TGG>TGA	43	43				0	Broad	hypothetical protein LOC25871			112738459		0.701	ENSG00000163608	2166	g.chr3:112738459C>T		integral to membrane								20.31532	KEEP	7	11	-1	25	27	7	11	-1	25.763724	25	27	0.178571	1	0	0	0	0	0	1	0	0	--	--		0	T			C3orf17_uc011bhz.1_5'UTR|C3orf17_uc010hqh.2_5'UTR|C3orf17_uc003dzt.2_5'UTR|C3orf17_uc003dzs.2_5'UTR|C3orf17_uc010hqg.2_5'UTR|C3orf17_uc011bia.1_5'UTR|C3orf17_uc003dzu.2_Nonsense_Mutation_p.W11*|C3orf17_uc011bib.1_5'UTR|C3orf17_uc011bic.1_5'UTR|C3orf17_uc011bid.1_RNA	50	GBM-06-0214-TP	p.W12*	C	TCACACGGTTCCACGGCTCCA	NM_015412	NP_056227	112738459	Q6NW34	CC017_HUMAN	0			1	97	-	T	T			Nonsense_Mutation	12						
C3orf17	0	broad.mit.edu	GRCh37	3	112724550	112724550	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-2629-01	TCGA-19-2629-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314400.5:c.1537A>G	p.Met513Val	p.M513V	ENST00000314400	NM_015412.3	513	Atg/Gtg	0			1			C	M/V	uc003dzr.2	protein_coding	YES	CCDS33824.1			1537/1704										0	c.(1537-1539)ATG>GTG				hypothetical protein LOC25871				ENSP00000320251		9-Sep	8.24E-06					1.50E-05			rs774892630,COSM2156317	9-Sep	.		ENST00000314400	Transcript				integral to membrane		ENSG00000163608	g.chr3:112724550T>C	24496			MODERATE		-0.69	neutral	getma.org/?cm=msa&ty=f&p=CC017_HUMAN&rb=36&re=565&var=M513V	NA	getma.org/?cm=var&var=hg19,3,112724550,T,C&fts=all	M513V	--	--	1																																		GTPBP8_uc011bhy.1_Intron|C3orf17_uc003dzq.2_Missense_Mutation_p.M138V|C3orf17_uc011bhz.1_Missense_Mutation_p.M138V|C3orf17_uc010hqh.2_Missense_Mutation_p.M138V|C3orf17_uc003dzt.2_Missense_Mutation_p.M416V|C3orf17_uc003dzs.2_Missense_Mutation_p.M377V|C3orf17_uc010hqg.2_Missense_Mutation_p.M338V|C3orf17_uc011bia.1_Missense_Mutation_p.M310V|C3orf17_uc003dzu.2_Missense_Mutation_p.M442V|C3orf17_uc011bib.1_Missense_Mutation_p.M402V|C3orf17_uc011bic.1_Missense_Mutation_p.M346V|C3orf17_uc011bid.1_RNA	0,1	1		benign(0.002)	p.M513V	NM_015412	NP_056227		tolerated(0.32)	0,1	CC017_HUMAN	C3orf17	HGNC	Q6NW34	CC017_HUMAN			C9J9E3_HUMAN,A8MVI8_HUMAN		9	1598	-			UPI0000367197	513					SNV	C3orf17,missense_variant,p.Met513Val,ENST00000314400,NM_015412.3;C3orf17,missense_variant,p.Met443Val,ENST00000383675,;C3orf17,missense_variant,p.Met377Val,ENST00000393857,;GTPBP8,downstream_gene_variant,,ENST00000383677,NM_138485.1;GTPBP8,downstream_gene_variant,,ENST00000473129,;GTPBP8,downstream_gene_variant,,ENST00000383678,NM_014170.2;GTPBP8,downstream_gene_variant,,ENST00000467752,;C3orf17,downstream_gene_variant,,ENST00000472762,;C3orf17,3_prime_UTR_variant,,ENST00000472637,;C3orf17,3_prime_UTR_variant,,ENST00000473284,;C3orf17,3_prime_UTR_variant,,ENST00000469169,;C3orf17,3_prime_UTR_variant,,ENST00000489848,;C3orf17,3_prime_UTR_variant,,ENST00000469809,;C3orf17,3_prime_UTR_variant,,ENST00000462295,;C3orf17,3_prime_UTR_variant,,ENST00000472705,;C3orf17,non_coding_transcript_exon_variant,,ENST00000486271,;C3orf17,non_coding_transcript_exon_variant,,ENST00000474311,;GTPBP8,intron_variant,,ENST00000485330,;C3orf17,downstream_gene_variant,,ENST00000461381,;C3orf17,downstream_gene_variant,,ENST00000482229,;C3orf17,downstream_gene_variant,,ENST00000496206,;GTPBP8,downstream_gene_variant,,ENST00000488781,;GTPBP8,downstream_gene_variant,,ENST00000295864,;C3orf17,downstream_gene_variant,,ENST00000464816,;	uc003dzr.2	c.1537A>G	1729/4992	4	4			c.1537A>G						3	SNP	c.(1537-1539)ATG>GTG	35	35				0	Broad	hypothetical protein LOC25871			112724550		0.388	ENSG00000163608	2166	g.chr3:112724550T>C		integral to membrane								296.588389	KEEP	44	47	-1	71	69	44	47	-1	298.77074	71	69	0.391509	1	0	0	0	0	1	0	0	0	--	--		0	C			GTPBP8_uc011bhy.1_Intron|C3orf17_uc003dzq.2_Missense_Mutation_p.M138V|C3orf17_uc011bhz.1_Missense_Mutation_p.M138V|C3orf17_uc010hqh.2_Missense_Mutation_p.M138V|C3orf17_uc003dzt.2_Missense_Mutation_p.M416V|C3orf17_uc003dzs.2_Missense_Mutation_p.M377V|C3orf17_uc010hqg.2_Missense_Mutation_p.M338V|C3orf17_uc011bia.1_Missense_Mutation_p.M310V|C3orf17_uc003dzu.2_Missense_Mutation_p.M442V|C3orf17_uc011bib.1_Missense_Mutation_p.M402V|C3orf17_uc011bic.1_Missense_Mutation_p.M346V|C3orf17_uc011bid.1_RNA	166	GBM-19-2629-TP	p.M513V	T	ATGACAGGCATTGAAACTCCA	NM_015412	NP_056227	112724550	Q6NW34	CC017_HUMAN	0			9	1598	-	C	C			Missense_Mutation	513						
C3orf20	0	broad.mit.edu	GRCh37	3	14799018	14799018	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-32-2494-01	TCGA-32-2494-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000253697.3:c.2081A>C	p.Asp694Ala	p.D694A	ENST00000253697	NM_032137.4	694	gAc/gCc	0			1			C	D/A	uc003byy.2	protein_coding	YES	CCDS33706.1			2081/2715									ovary(3)|skin(1)	4	c.(2080-2082)GAC>GCC			hmmpanther:PTHR23093,hmmpanther:PTHR23093:SF14	hypothetical protein LOC84077				ENSP00000253697		13/17									COSM3408320	13/17	.		ENST00000253697	Transcript				cytoplasm|integral to membrane		ENSG00000131379	g.chr3:14799018A>C	25320			MODERATE		2.34	medium	getma.org/?cm=msa&ty=f&p=CC020_HUMAN&rb=375&re=830&var=D694A	NA	getma.org/?cm=var&var=hg19,3,14799018,A,C&fts=all	D694A	--	--	1																																		C3orf20_uc003byz.2_Missense_Mutation_p.D572A|C3orf20_uc003bza.2_Missense_Mutation_p.D572A|C3orf20_uc003bzb.1_Missense_Mutation_p.D195A|C3orf20_uc011avj.1_Missense_Mutation_p.D21A	1	1		probably_damaging(1)	p.D694A	NM_032137	NP_115513		deleterious(0)	1	CC020_HUMAN	C3orf20	HGNC	Q8ND61	CC020_HUMAN					13	2485	+			UPI000013CDE9	694					SNV	C3orf20,missense_variant,p.Asp694Ala,ENST00000253697,NM_032137.4;C3orf20,missense_variant,p.Asp572Ala,ENST00000435614,NM_001184958.1;C3orf20,missense_variant,p.Asp572Ala,ENST00000412910,NM_001184957.1;	uc003byy.2	c.2081A>C	2533/3326	3	3			c.2081A>C						3	SNP	c.(2080-2082)GAC>GCC	3	3			ovary(3)|skin(1)	4	Broad	hypothetical protein LOC84077			14799018		0.632	ENSG00000131379	2169	g.chr3:14799018A>C		cytoplasm|integral to membrane								90.054754	KEEP	18	19	-1	54	59	18	19	-1	97.790531	54	59	0.24812	1	0	0	0	0	1	0	0	0	--	--		0	C			C3orf20_uc003byz.2_Missense_Mutation_p.D572A|C3orf20_uc003bza.2_Missense_Mutation_p.D572A|C3orf20_uc003bzb.1_Missense_Mutation_p.D195A|C3orf20_uc011avj.1_Missense_Mutation_p.D21A	236	GBM-32-2494-TP	p.D694A	A	CTGGTCTCTGACGTGGAGCTG	NM_032137	NP_115513	14799018	Q8ND61	CC020_HUMAN	0			13	2485	+	C	C			Missense_Mutation	694						
C3orf22	152065	broad.mit.edu	GRCh37	3	126268815	126268815	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0129-01	TCGA-06-0129-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318225.2:c.322C>T	p.Arg108Cys	p.R108C	ENST00000318225	NM_152533.1	108	Cgc/Tgc	0			1			A	R/C	uc003ejb.2	protein_coding	YES	CCDS3040.1			322/426										0	c.(322-324)CGC>TGC				hypothetical protein LOC152065				ENSP00000316644		4-Apr	1.65E-05			0.000231					rs762729878,COSM1037781	4-Apr	.		ENST00000318225	Transcript						ENSG00000180697	g.chr3:126268815G>A	28534			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=CC022_HUMAN&rb=1&re=140&var=R108C	NA	getma.org/?cm=var&var=hg19,3,126268815,G,A&fts=all	R108C	--	--	1																																			0,1	1		benign(0.272)	p.R108C	NM_152533	NP_689746		tolerated(0.18)	0,1	CC022_HUMAN	C3orf22	HGNC	Q8N5N4	CC022_HUMAN		GBM - Glioblastoma multiforme(114;0.147)			4	651	-			UPI000006D113	108					SNV	C3orf22,missense_variant,p.Arg108Cys,ENST00000318225,NM_152533.1;C3orf22,intron_variant,,ENST00000505070,;	uc003ejb.2	c.322C>T	701/1000	2	2			c.322C>T						3	SNP	c.(322-324)CGC>TGC	34	34				0	Broad	hypothetical protein LOC152065			126268815		0.632	ENSG00000180697	2171	g.chr3:126268815G>A										23.492393	KEEP	4	8	-1	24	30	4	8	-1	29.564733	24	30	0.177419	1	0	0	0	0	1	0	0	0	--	--		0	A				15	GBM-06-0129-TP	p.R108C	G	GGGAAGCGGCGACTCAGCAAC	NM_152533	NP_689746	126268815	Q8N5N4	CC022_HUMAN	0		GBM - Glioblastoma multiforme(114;0.147)	4	651	-	A	A			Missense_Mutation	108						
C3orf67	200844	broad.mit.edu	GRCh37	3	58870384	58870384	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01	TCGA-06-0214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295966.7:c.227G>A	p.Arg76Gln	p.R76Q	ENST00000295966	NM_198463.2	76	cGa/cAa	0			1			T	R/Q	uc003dkt.1	protein_coding					227/2070										0	c.(226-228)CGA>CAA			hmmpanther:PTHR12458,hmmpanther:PTHR12458:SF7	hypothetical protein LOC200844				ENSP00000417122		13-Mar	8.24E-06					1.50E-05			rs778956286,COSM239074,COSM3408846	13-Mar	.		ENST00000482387	Transcript						ENSG00000163689	g.chr3:58870384C>T	24763			MODERATE		1.83	low	getma.org/?cm=msa&ty=f&p=CC067_HUMAN&rb=1&re=687&var=R76Q	NA	getma.org/?cm=var&var=hg19,3,58870384,C,T&fts=all	R76Q	--	--	1																																		uc003dku.1_Intron|C3orf67_uc003dkv.1_5'UTR|C3orf67_uc003dkw.2_5'UTR	0,1,1			benign(0.059)	p.R76Q	NM_198463	NP_940865		tolerated(0.14)	0,1,1	CC067_HUMAN	C3orf67	HGNC	Q6ZVT6	CC067_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)	H7C5H9_HUMAN		7	636	-		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)	UPI0000EE2BB5	76					SNV	C3orf67,missense_variant,p.Arg76Gln,ENST00000295966,NM_198463.2;C3orf67,missense_variant,p.Arg76Gln,ENST00000482387,;C3orf67,5_prime_UTR_variant,,ENST00000472469,;RP11-147N17.1,intron_variant,,ENST00000482372,;RP11-147N17.1,intron_variant,,ENST00000493123,;RP11-147N17.1,intron_variant,,ENST00000492031,;RP11-147N17.1,intron_variant,,ENST00000463703,;C3orf67,3_prime_UTR_variant,,ENST00000468415,;C3orf67,downstream_gene_variant,,ENST00000479931,;	uc003dkt.1	c.227G>A	324/2617	2	2			c.227G>A						3	SNP	c.(226-228)CGA>CAA	33	33				0	Broad	hypothetical protein LOC200844			58870384		0.393	ENSG00000163689	2197	g.chr3:58870384C>T										236.368281	KEEP	45	45	-1	79	105	45	45	-1	242.924687	79	105	0.328	1	0	0	0	0	1	0	0	0	--	--		0	T			uc003dku.1_Intron|C3orf67_uc003dkv.1_5'UTR|C3orf67_uc003dkw.2_5'UTR	50	GBM-06-0214-TP	p.R76Q	C	TTGACAGCTTCGTGGTATAAT	NM_198463	NP_940865	58870384	Q6ZVT6	CC067_HUMAN	0		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)	7	636	-	T	T		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)	Missense_Mutation	76						
C3orf67	0	broad.mit.edu	GRCh37	3	58856003	58856003	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000482387.1:c.373C>T	p.Arg125Trp	p.R125W	ENST00000482387		125	Cgg/Tgg	0			1			A	R/W	uc003dkt.1	protein_coding					373/2070										0	c.(373-375)CGG>TGG			hmmpanther:PTHR12458,hmmpanther:PTHR12458:SF7	hypothetical protein LOC200844				ENSP00000417122		13-Apr	3.29E-05		8.64E-05	0.000116	0.000302				rs756677660,COSM3408843,COSM3408844	13-Apr	.		ENST00000482387	Transcript						ENSG00000163689	g.chr3:58856003G>A	24763			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=CC067_HUMAN&rb=1&re=687&var=R125W	NA	getma.org/?cm=var&var=hg19,3,58856003,G,A&fts=all	R125W	--	--	1																																		C3orf67_uc003dks.1_5'Flank|uc003dku.1_Intron|C3orf67_uc003dkv.1_Translation_Start_Site|C3orf67_uc003dkw.2_Missense_Mutation_p.R33W	0,1,1			probably_damaging(0.993)	p.R125W	NM_198463	NP_940865		deleterious(0.03)	0,1,1	CC067_HUMAN	C3orf67	HGNC	Q6ZVT6	CC067_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)	H7C5H9_HUMAN		8	782	-		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)	UPI0000EE2BB5	125					SNV	C3orf67,missense_variant,p.Arg45Trp,ENST00000472469,;C3orf67,missense_variant,p.Arg125Trp,ENST00000295966,NM_198463.2;C3orf67,missense_variant,p.Arg125Trp,ENST00000482387,;RP11-147N17.1,intron_variant,,ENST00000482372,;RP11-147N17.1,intron_variant,,ENST00000493123,;RP11-147N17.1,intron_variant,,ENST00000492031,;RP11-147N17.1,intron_variant,,ENST00000463703,;C3orf67,3_prime_UTR_variant,,ENST00000468415,;	uc003dkt.1	c.373C>T	470/2617	1	1			c.373C>T						3	SNP	c.(373-375)CGG>TGG	56	56				0	Broad	hypothetical protein LOC200844			58856003		0.378	ENSG00000163689	2197	g.chr3:58856003G>A										16.32265	KEEP	8	11	-1	70	65	8	11	-1	37.760593	70	65	0.107143	1	0	0	0	0	1	0	0	0	--	--		0	A			C3orf67_uc003dks.1_5'Flank|uc003dku.1_Intron|C3orf67_uc003dkv.1_Translation_Start_Site|C3orf67_uc003dkw.2_Missense_Mutation_p.R33W	240	GBM-32-2632-TP	p.R125W	G	TTACTGTTCCGTGTAATACTT	NM_198463	NP_940865	58856003	Q6ZVT6	CC067_HUMAN	0		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)	8	782	-	A	A		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)	Missense_Mutation	125						
C3orf67	200844		GRCh37	3	58870322	58870322	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000295966.7:c.289C>T	p.Arg97Cys	p.R97C	ENST00000295966	NM_198463.2	97	Cgc/Tgc	0																																																																																																																																																																																																																																												
C3orf70	285382		GRCh37	3	184870498	184870498	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000335012.2:c.114C>T	p.Cys38=	p.C38=	ENST00000335012	NM_001025266.1	38	tgC/tgT	0																																																																																																																																																																																																																																												
C3orf72	0	broad.mit.edu	GRCh37	3	138669148	138669148	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01	TCGA-06-0939-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000383165.3:c.262C>T	p.Arg88Trp	p.R88W	ENST00000383165	NM_001040061.2	88	Cgg/Tgg	0			1			T	R/W	uc003esx.1	protein_coding	YES	CCDS43155.1			262/528										0	c.(262-264)CGG>TGG				chromosome 3 open reading frame 72				ENSP00000372651		3-Mar	8.40E-06		9.12E-05						rs768279723,COSM2152424	3-Mar	.		ENST00000383165	Transcript						ENSG00000206262	g.chr3:138669148C>T	34428			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=CC072_HUMAN&rb=1&re=174&var=R88W	NA	getma.org/?cm=var&var=hg19,3,138669148,C,T&fts=all	R88W	--	--	1																																		C3orf72_uc011bmr.1_3'UTR	0,1	1		benign(0.09)	p.R88W	NM_001040061	NP_001035150		deleterious_low_confidence(0.02)	0,1	CC072_HUMAN	C3orf72	HGNC	Q6ZUU3	CC072_HUMAN					3	393	+			UPI00001C0AE3	88					SNV	C3orf72,missense_variant,p.Arg88Trp,ENST00000383165,NM_001040061.2;FOXL2,upstream_gene_variant,,ENST00000330315,NM_023067.3;C3orf72,3_prime_UTR_variant,,ENST00000470680,;C3orf72,non_coding_transcript_exon_variant,,ENST00000498709,;	uc003esx.1	c.262C>T	393/3538	2	2			c.262C>T						3	SNP	c.(262-264)CGG>TGG	22	22				0	Broad	chromosome 3 open reading frame 72			138669148		0.692	ENSG00000206262	2200	g.chr3:138669148C>T										36.363245	KEEP	9	15	-1	20	23	9	15	-1	37.200416	20	23	0.342105	1	0	0	0	0	1	0	0	0	--	--		0	T			C3orf72_uc011bmr.1_3'UTR	78	GBM-06-0939-TP	p.R88W	C	GCCCGCGCCTCGGGCTTCCGG	NM_001040061	NP_001035150	138669148	Q6ZUU3	CC072_HUMAN	0			3	393	+	T	T			Missense_Mutation	88						
C4BPA	0	broad.mit.edu	GRCh37	1	207300203	207300203	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-19-1390-01	TCGA-19-1390-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367070.3:c.852T>C	p.Asp284=	p.D284=	ENST00000367070	NM_000715.3	284	gaT/gaC	0			1			C	D	uc001hfo.2	protein_coding	YES	CCDS1477.1			852/1794									large_intestine(1)|ovary(1)|central_nervous_system(1)	3	c.(850-852)GAT>GAC			Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF341,SMART_domains:SM00032,Superfamily_domains:SSF57535	complement component 4 binding protein, alpha				ENSP00000356037		12-Jul									COSM3400248	12-Jul	.		ENST00000367070	Transcript			complement activation, classical pathway|innate immune response	extracellular region	protein binding	ENSG00000123838	g.chr1:207300203T>C	1325			LOW								--	--	1																																			1	1			p.D284D	NM_000715	NP_000706			1	C4BPA_HUMAN	C4BPA	HGNC	P04003	C4BPA_HUMAN			Q5VVQ8_HUMAN,A6PVY5_HUMAN		7	1046	+			UPI0000126C28	284			Sushi 4.		SNV	C4BPA,synonymous_variant,p.=,ENST00000367070,NM_000715.3;C4BPA,downstream_gene_variant,,ENST00000421786,;	uc001hfo.2	c.852T>C	1046/2243	3	3			c.852T>C						1	SNP	c.(850-852)GAT>GAC	9	9			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Broad	complement component 4 binding protein, alpha			207300203		0.403	ENSG00000123838	2203	g.chr1:207300203T>C	complement activation, classical pathway|innate immune response	extracellular region	protein binding							251.301307	KEEP	46	33	-1	37	42	46	33	-1	251.301307	37	42	0.5	1	0	0	0	0	0	0	1	0	--	--		0	C				159	GBM-19-1390-TP	p.D284D	T	GTGATGCTGATAGCAAATGGA	NM_000715	NP_000706	207300203	P04003	C4BPA_HUMAN	0			7	1046	+	C	C			Silent	284			Sushi 4.			
C4BPB	0	broad.mit.edu	GRCh37	1	207263727	207263727	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-26-5135-01	TCGA-26-5135-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000243611.5:c.133G>T	p.Gly45Trp	p.G45W	ENST00000243611	NM_000716.3	45	Ggg/Tgg	0			1			T	G/W	uc001hfj.2	protein_coding	YES	CCDS1476.1			133/759									ovary(1)	1	c.(133-135)GGG>TGG			PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF40,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	complement component 4 binding protein, beta				ENSP00000243611		6-Feb									COSM3400247	6-Feb	.		ENST00000243611	Transcript			blood coagulation|complement activation, classical pathway|innate immune response	extracellular region		ENSG00000123843	g.chr1:207263727G>T	1328			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=C4BPB_HUMAN&rb=23&re=76&var=G45W	NA	getma.org/?cm=var&var=hg19,1,207263727,G,T&fts=all	G45W	--	--	1																																		C4BPB_uc001hfi.2_Missense_Mutation_p.G44W|C4BPB_uc001hfk.2_Missense_Mutation_p.G44W|C4BPB_uc001hfl.2_Missense_Mutation_p.G45W|C4BPB_uc009xcd.2_Missense_Mutation_p.G35W|C4BPB_uc001hfm.2_Missense_Mutation_p.G45W|C4BPB_uc010pse.1_Missense_Mutation_p.G35W	1	1		probably_damaging(1)	p.G45W	NM_001017365	NP_001017365		deleterious(0)	1	C4BPB_HUMAN	C4BPB	HGNC	P20851	C4BPB_HUMAN			Q5VVQ7_HUMAN		3	263	+			UPI0000126C25	45			Sushi 1.		SNV	C4BPB,missense_variant,p.Gly45Trp,ENST00000243611,NM_000716.3;C4BPB,missense_variant,p.Gly44Trp,ENST00000367076,NM_001017364.1;C4BPB,missense_variant,p.Gly35Trp,ENST00000451804,;C4BPB,missense_variant,p.Gly45Trp,ENST00000367078,NM_001017366.1,NM_001017365.1;C4BPB,missense_variant,p.Gly45Trp,ENST00000391923,NM_001017367.1;C4BPB,missense_variant,p.Gly45Trp,ENST00000452902,;C4BPB,non_coding_transcript_exon_variant,,ENST00000492730,;C4BPB,upstream_gene_variant,,ENST00000469326,;	uc001hfj.2	c.133G>T	427/1117	2	2			c.133G>T						1	SNP	c.(133-135)GGG>TGG	29	29			ovary(1)	1	Broad	complement component 4 binding protein, beta			207263727		0.473	ENSG00000123843	2204	g.chr1:207263727G>T	blood coagulation|complement activation, classical pathway|innate immune response	extracellular region								-27.762549	KEEP	2	3	0.4	61	87	2	3	0.4	7.03869	61	87	0.034014	1	0	0	0	0	1	0	0	0	--	--		0	T			C4BPB_uc001hfi.2_Missense_Mutation_p.G44W|C4BPB_uc001hfk.2_Missense_Mutation_p.G44W|C4BPB_uc001hfl.2_Missense_Mutation_p.G45W|C4BPB_uc009xcd.2_Missense_Mutation_p.G35W|C4BPB_uc001hfm.2_Missense_Mutation_p.G45W|C4BPB_uc010pse.1_Missense_Mutation_p.G35W	184	GBM-26-5135-TP	p.G45W	G	ACAGATTCTGGGGACTTACGT	NM_001017365	NP_001017365	207263727	P20851	C4BPB_HUMAN	0			3	263	+	T	T			Missense_Mutation	45			Sushi 1.			
C4orf21	0	broad.mit.edu	GRCh37	4	113510967	113510968	+	frameshift_variant	Frame_Shift_Del	DEL	TT	TT	-			TCGA-06-0173-01	TCGA-06-0173-01	TT	TT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000505019.1:c.3039_3040del	p.Asp1015Ter	p.D1015*	ENST00000505019	NM_018392.4	1013	tcAAga/tcga	0			1			-	SR/SX	uc003iau.2	protein_coding	YES	CCDS3700.2			3039-3040/6315										0	c.(3037-3042)TCAAGAfs			hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF325	prematurely terminated mRNA decay factor-like				ENSP00000424737		28-Nov									COSM2150395,COSM2150394	28-Nov	.		ENST00000505019	Transcript				integral to membrane	zinc ion binding	ENSG00000138658	g.chr4:113510967_113510968delTT	25654			HIGH								--	--	1																																		C4orf21_uc003iav.2_5'Flank|C4orf21_uc003iaw.2_Frame_Shift_Del_p.S1013fs	1,1	1			p.S1013fs	NM_018392	NP_060862			1,1	CD021_HUMAN	C4orf21	HGNC	Q6ZU11	YD002_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	I3L0G6_HUMAN,D6REN9_HUMAN		11	3250_3251	-		Ovarian(17;0.156)	UPI0000EE2F8F	Error:Variant_position_missing_in_Q6ZU11_after_alignment					deletion	C4orf21,frameshift_variant,p.Asp1015Ter,ENST00000505019,NM_018392.4;C4orf21,frameshift_variant,p.Asp1015Ter,ENST00000309071,;C4orf21,intron_variant,,ENST00000473015,;C4orf21,upstream_gene_variant,,ENST00000445413,;	uc003iau.2	c.3039_3040delAA	3165-3166/6652	5	5			c.3039_3040delAA						4	DEL	c.(3037-3042)TCAAGAfs	51	51				0	Broad	prematurely terminated mRNA decay factor-like			113510968		0.391	ENSG00000138658	2208	g.chr4:113510967_113510968delTT		integral to membrane	zinc ion binding																				0.34	1	1	0	1	0	0	0	0	0	--	--		0	-			C4orf21_uc003iav.2_5'Flank|C4orf21_uc003iaw.2_Frame_Shift_Del_p.S1013fs	36	GBM-06-0173-TP	p.S1013fs	TT	TCTTCATCTCTTGAGTTCAAAG	NM_018392	NP_060862	113510967	Q6ZU11	YD002_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	11	3250_3251	-	-	-		Ovarian(17;0.156)	Frame_Shift_Del	Error:Variant_position_missing_in_Q6ZU11_after_alignment						
C4orf22	0	broad.mit.edu	GRCh37	4	81504250	81504250	+	synonymous_variant	Silent	SNP	G	G	A	rs141410009	by1000genomes	TCGA-41-3915-01	TCGA-41-3915-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358105.3:c.246G>A	p.Thr82=	p.T82=	ENST00000358105	NM_152770.2	82	acG/acA	0	A:0.0002	A:0.003	1	A:0		A	T	uc003hmf.2	protein_coding		CCDS3587.1			246/702									skin(2)	2	c.(244-246)ACG>ACA			Pfam_domain:PF14713	hypothetical protein LOC255119		A:0	A:0	ENSP00000350818	A:0	6-Mar	5.77E-05	0.000583				1.51E-05			rs141410009,COSM3409567,COSM3409566	6-Mar	common_variant		ENST00000358105	Transcript		A:0.0008				ENSG00000197826	g.chr4:81504250G>A	28554			LOW								--	--	1																																		C4orf22_uc010ijp.2_Silent_p.T82T	0,1,1				p.T82T	NM_152770	NP_689983	A:0		0,1,1	CD022_HUMAN	C4orf22	HGNC	Q6V702	CD022_HUMAN					3	295	+			UPI00001AF0C8	82					SNV	C4orf22,synonymous_variant,p.=,ENST00000358105,NM_152770.2;C4orf22,synonymous_variant,p.=,ENST00000508675,NM_001206997.1;C4orf22,non_coding_transcript_exon_variant,,ENST00000512931,;C4orf22,non_coding_transcript_exon_variant,,ENST00000502497,;C4orf22,non_coding_transcript_exon_variant,,ENST00000503883,;C4orf22,synonymous_variant,p.=,ENST00000513920,;C4orf22,3_prime_UTR_variant,,ENST00000514249,;	uc003hmf.2	c.246G>A	295/895	2	2			c.246G>A						4	SNP	c.(244-246)ACG>ACA	34	34			skin(2)	2	Broad	hypothetical protein LOC255119			81504250		0.383	ENSG00000197826	2209	g.chr4:81504250G>A										132.771018	KEEP	24	25	-1	46	35	24	25	-1	134.445423	46	35	0.372881	1	0	0	0	0	0	0	1	0	--	--		0	A			C4orf22_uc010ijp.2_Silent_p.T82T	256	GBM-41-3915-TP	p.T82T	G	TTTACAGGACGCTAACAAGTG	NM_152770	NP_689983	81504250	Q6V702	CD022_HUMAN	0			3	295	+	A	A			Silent	82						
C4orf32	0	broad.mit.edu	GRCh37	4	113107978	113107978	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-14-1395-01	TCGA-14-1395-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309733.5:c.283C>T	p.Arg95Ter	p.R95*	ENST00000309733	NM_152400.2	95	Cga/Tga	0			1			T	R/*	uc003iah.2	protein_coding	YES	CCDS3695.1			283/399										0	c.(283-285)CGA>TGA			Pfam_domain:PF15378	chromosome 4 open reading frame 32				ENSP00000310182		2-Feb									COSM3408998	2-Feb	.		ENST00000309733	Transcript				integral to membrane		ENSG00000174749	g.chr4:113107978C>T	26813			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,4,113107978,C,T&fts=all	R95*	--	--	1																																		C4orf32_uc003iai.2_RNA	1	1			p.R95*	NM_152400	NP_689613			1	CD032_HUMAN	C4orf32	HGNC	Q8N8J7	CD032_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00198)			2	467	+		Ovarian(17;0.156)	UPI000013EF13	95					SNV	C4orf32,stop_gained,p.Arg95Ter,ENST00000309733,NM_152400.2;	uc003iah.2	c.283C>T	467/8901	5	2			c.283C>T						4	SNP	c.(283-285)CGA>TGA	43	43				0	Broad	chromosome 4 open reading frame 32			113107978		0.413	ENSG00000174749	2216	g.chr4:113107978C>T		integral to membrane								256.282856	KEEP	59	41	-1	63	53	59	41	-1	256.453011	63	53	0.467742	1	0	0	0	0	0	1	0	0	--	--		0	T			C4orf32_uc003iai.2_RNA	144	GBM-14-1395-TP	p.R95*	C	TTTTGGAGAACGAATAGTGGA	NM_152400	NP_689613	113107978	Q8N8J7	CD032_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;0.00198)	2	467	+	T	T		Ovarian(17;0.156)	Nonsense_Mutation	95						
C4orf40	0	broad.mit.edu	GRCh37	4	71024299	71024299	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-1835-01	TCGA-27-1835-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344526.5:c.330G>A	p.Pro110=	p.P110=	ENST00000344526	NM_214711.3	110	ccG/ccA	0			1			A	P	uc003hfa.3	protein_coding	YES	CCDS3535.1			330/660										0	c.(328-330)CCG>CCA			Low_complexity_(Seg):seg	hypothetical protein LOC401137 precursor				ENSP00000343172		5-Mar	9.06E-05	0.000192	8.64E-05			3.00E-05		0.000363	rs759437234,COSM2157249	5-Mar	.		ENST00000344526	Transcript				extracellular region		ENSG00000187533	g.chr4:71024299G>A	33193			LOW								--	--	1																																		C4orf40_uc003hfb.3_Silent_p.P110P	0,1	1			p.P110P	NM_214711	NP_999876			0,1	CD040_HUMAN	C4orf40	HGNC	Q6MZM9	CD040_HUMAN					4	403	+			UPI0000036170	110					SNV	C4orf40,synonymous_variant,p.=,ENST00000344526,NM_214711.3;C4orf40,synonymous_variant,p.=,ENST00000502294,;C4orf40,non_coding_transcript_exon_variant,,ENST00000502441,;C4orf40,3_prime_UTR_variant,,ENST00000509633,;C4orf40,upstream_gene_variant,,ENST00000512173,;	uc003hfa.3	c.330G>A	519/3127	2	2			c.330G>A						4	SNP	c.(328-330)CCG>CCA	42	42				0	Broad	hypothetical protein LOC401137 precursor			71024299		0.532	ENSG00000187533	2223	g.chr4:71024299G>A		extracellular region								486.136595	KEEP	92	91	-1	139	118	92	91	-1	488.178444	139	118	0.423174	1	0	0	0	0	0	0	1	0	--	--		0	A			C4orf40_uc003hfb.3_Silent_p.P110P	194	GBM-27-1835-TP	p.P110P	G	GGGGTTTCCCGTTTGTCCCTC	NM_214711	NP_999876	71024299	Q6MZM9	CD040_HUMAN	0			4	403	+	A	A			Silent	110						
C4orf40	0	broad.mit.edu	GRCh37	4	71021774	71021774	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01	TCGA-28-2514-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344526.5:c.55C>T	p.Arg19Trp	p.R19W	ENST00000344526	NM_214711.3	19	Cgg/Tgg	0		T:0	1	T:0		T	R/W	uc003hfa.3	protein_coding	YES	CCDS3535.1			55/660										0	c.(55-57)CGG>TGG				hypothetical protein LOC401137 precursor		T:0		ENSP00000343172	T:0	5-Feb	3.30E-05		8.92E-05			1.65E-05		0.000129	rs577881430,COSM448078	5-Feb	.		ENST00000344526	Transcript		T:0.0004		extracellular region		ENSG00000187533	g.chr4:71021774C>T	33193			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=CD040_HUMAN&rb=1&re=119&var=R19W	NA	getma.org/?cm=var&var=hg19,4,71021774,C,T&fts=all	R19W	--	--	1																																		C4orf40_uc003hfb.3_Missense_Mutation_p.R19W	0,1	1		probably_damaging(0.942)	p.R19W	NM_214711	NP_999876	T:0.002	deleterious(0.04)	0,1	CD040_HUMAN	C4orf40	HGNC	Q6MZM9	CD040_HUMAN					3	128	+			UPI0000036170	19					SNV	C4orf40,missense_variant,p.Arg19Trp,ENST00000344526,NM_214711.3;C4orf40,missense_variant,p.Arg19Trp,ENST00000502294,;C4orf40,non_coding_transcript_exon_variant,,ENST00000502441,;C4orf40,3_prime_UTR_variant,,ENST00000509633,;C4orf40,upstream_gene_variant,,ENST00000512173,;	uc003hfa.3	c.55C>T	244/3127	1	1			c.55C>T						4	SNP	c.(55-57)CGG>TGG	3	3				0	Broad	hypothetical protein LOC401137 precursor			71021774		0.259	ENSG00000187533	2223	g.chr4:71021774C>T		extracellular region								78.271529	KEEP	20	9	-1	14	20	20	9	-1	78.308449	14	20	0.471698	1	0	0	0	0	1	0	0	0	--	--		0	T			C4orf40_uc003hfb.3_Missense_Mutation_p.R19W	214	GBM-28-2514-TP	p.R19W	C	ATTTTAGAGACGGTTCCCCTT	NM_214711	NP_999876	71021774	Q6MZM9	CD040_HUMAN	0			3	128	+	T	T			Missense_Mutation	19						
C4orf46	201725		GRCh37	4	159590866	159590866	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000379205.4:c.241G>A	p.Val81Met	p.V81M	ENST00000379205	NM_001008393.3	81	Gtg/Atg	0																																																																																																																																																																																																																																												
C5	727	broad.mit.edu	GRCh37	9	123745005	123745005	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0646-01	TCGA-06-0646-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000223642.1:c.3318G>A	p.Trp1106Ter	p.W1106*	ENST00000223642	NM_001735.2	1106	tgG/tgA	0			1			T	W/*	uc004bkv.2	protein_coding	YES	CCDS6826.1			3318/5031									ovary(2)	2	c.(3316-3318)TGG>TGA			Gene3D:1.50.10.20,Pfam_domain:PF07678,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF83,Superfamily_domains:SSF48239	complement component 5 preproprotein	Eculizumab(DB01257)			ENSP00000223642		26/41									COSM3413310	26/41	.		ENST00000223642	Transcript	1		activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	ENSG00000106804	g.chr9:123745005C>T	1331			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,9,123745005,C,T&fts=all	W1106*	--	--	1																																			1	1			p.W1106*	NM_001735	NP_001726			1	CO5_HUMAN	C5	HGNC	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)			26	3348	-			UPI000013C838	1106					SNV	C5,stop_gained,p.Trp1106Ter,ENST00000223642,NM_001735.2;C5,upstream_gene_variant,,ENST00000489802,;	uc004bkv.2	c.3318G>A	3348/5462	5	2			c.3318G>A						9	SNP	c.(3316-3318)TGG>TGA	25	25			ovary(2)	2	Broad	complement component 5 preproprotein		Eculizumab(DB01257)	123745005		0.299	ENSG00000106804	2234	g.chr9:123745005C>T	activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity							-3.447693	KEEP	0	4	-1	62	51	0	4	-1	6.369314	62	51	0.075472	1	0	0	0	0	0	1	0	0	--	--		0	T				60	GBM-06-0646-TP	p.W1106*	C	TCTCAACTAGCCACAATAAAG	NM_001735	NP_001726	123745005	P01031	CO5_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	26	3348	-	T	T			Nonsense_Mutation	1106						
C5AR1	0	broad.mit.edu	GRCh37	19	47823567	47823567	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01	TCGA-19-5951-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355085.3:c.533G>A	p.Arg178Gln	p.R178Q	ENST00000355085	NM_001736.3	178	cGg/cAg	0			1			A	R/Q	uc002pgj.1	protein_coding	YES	CCDS33063.1			533/1053									ovary(2)|central_nervous_system(1)|skin(1)	4	c.(532-534)CGG>CAG			PROSITE_profiles:PS50262,hmmpanther:PTHR24225,hmmpanther:PTHR24225:SF28,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01104	complement component 5 receptor 1				ENSP00000347197		2-Feb									COSM2156642	2-Feb	.		ENST00000355085	Transcript			activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity	ENSG00000197405	g.chr19:47823567G>A	1338			MODERATE		-0.18	neutral	getma.org/?cm=msa&ty=f&p=C5AR_HUMAN&rb=54&re=300&var=R178Q	getma.org/pdb.php?prot=C5AR_HUMAN&from=54&to=300&var=R178Q	getma.org/?cm=var&var=hg19,19,47823567,G,A&fts=all	R178Q	--	--	1																																			1	1		benign(0.001)	p.R178Q	NM_001736	NP_001727		tolerated(0.22)	1	C5AR1_HUMAN	C5AR1	HGNC	P21730	C5AR_HUMAN		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)			2	582	+		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	UPI0000202756	178			Extracellular (Potential).		SNV	C5AR1,missense_variant,p.Arg178Gln,ENST00000355085,NM_001736.3;C5AR1,downstream_gene_variant,,ENST00000594787,;	uc002pgj.1	c.533G>A	555/2311	2	2			c.533G>A						19	SNP	c.(532-534)CGG>CAG	28	28			ovary(2)|central_nervous_system(1)|skin(1)	4	Broad	complement component 5 receptor 1			47823567		0.637	ENSG00000197405	2235	g.chr19:47823567G>A	activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity							297.419291	KEEP	40	57	-1	66	53	40	57	-1	297.726254	66	53	0.457711	1	0	0	0	0	1	0	0	0	--	--		0	A				171	GBM-19-5951-TP	p.R178Q	G	CGGGTGGTCCGGGAGGAGTAC	NM_001736	NP_001727	47823567	P21730	C5AR_HUMAN	0		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)	2	582	+	A	A		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	Missense_Mutation	178			Extracellular (Potential).			
C5AR1	0	broad.mit.edu	GRCh37	19	47823716	47823716	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs146163744		TCGA-27-1831-01	TCGA-27-1831-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355085.3:c.682C>T	p.Arg228Trp	p.R228W	ENST00000355085	NM_001736.3	228	Cgg/Tgg	0	T:0		1			T	R/W	uc002pgj.1	protein_coding	YES	CCDS33063.1			682/1053									ovary(2)|central_nervous_system(1)|skin(1)	4	c.(682-684)CGG>TGG			PROSITE_profiles:PS50262,hmmpanther:PTHR24225,hmmpanther:PTHR24225:SF28,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01104,Prints_domain:PR00426	complement component 5 receptor 1			T:0.0001	ENSP00000347197		2-Feb	3.29E-05		0.000259			1.50E-05			rs146163744,COSM191293	2-Feb	.		ENST00000355085	Transcript			activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity	ENSG00000197405	g.chr19:47823716C>T	1338			MODERATE		3.385	medium	getma.org/?cm=msa&ty=f&p=C5AR_HUMAN&rb=54&re=300&var=R228W	getma.org/pdb.php?prot=C5AR_HUMAN&from=54&to=300&var=R228W	getma.org/?cm=var&var=hg19,19,47823716,C,T&fts=all	R228W	--	--	1																																			0,1	1		probably_damaging(0.999)	p.R228W	NM_001736	NP_001727		deleterious(0)	0,1	C5AR1_HUMAN	C5AR1	HGNC	P21730	C5AR_HUMAN		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)			2	731	+		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	UPI0000202756	228			Cytoplasmic (Potential).		SNV	C5AR1,missense_variant,p.Arg228Trp,ENST00000355085,NM_001736.3;C5AR1,downstream_gene_variant,,ENST00000594787,;	uc002pgj.1	c.682C>T	704/2311	2	2			c.682C>T						19	SNP	c.(682-684)CGG>TGG	30	30			ovary(2)|central_nervous_system(1)|skin(1)	4	Broad	complement component 5 receptor 1			47823716		0.612	ENSG00000197405	2235	g.chr19:47823716C>T	activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity							-39.369887	KEEP	3	3	-1	97	108	3	3	-1	9.488837	97	108	0.02551	1	0	0	0	0	1	0	0	0	--	--		0	T				190	GBM-27-1831-TP	p.R228W	C	CATCCTGCTCCGGACGTGGAG	NM_001736	NP_001727	47823716	P21730	C5AR_HUMAN	0		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)	2	731	+	T	T		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	Missense_Mutation	228			Cytoplasmic (Potential).			
C5AR1	0	broad.mit.edu	GRCh37	19	47823297	47823297	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355085.3:c.263C>T	p.Ala88Val	p.A88V	ENST00000355085	NM_001736.3	88	gCg/gTg	0	T:0.0002		1			T	A/V	uc002pgj.1	protein_coding	YES	CCDS33063.1			263/1053									ovary(2)|central_nervous_system(1)|skin(1)	4	c.(262-264)GCG>GTG			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24225,hmmpanther:PTHR24225:SF28,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00426	complement component 5 receptor 1			T:0	ENSP00000347197		2-Feb	0.00028	9.61E-05			0.000303	0.00045		6.06E-05	rs201037165,COSM3404416	2-Feb	common_variant		ENST00000355085	Transcript			activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity	ENSG00000197405	g.chr19:47823297C>T	1338			MODERATE		1.135	low	getma.org/?cm=msa&ty=f&p=C5AR_HUMAN&rb=54&re=300&var=A88V	getma.org/pdb.php?prot=C5AR_HUMAN&from=54&to=300&var=A88V	getma.org/?cm=var&var=hg19,19,47823297,C,T&fts=all	A88V	--	--	1																																			0,1	1		possibly_damaging(0.849)	p.A88V	NM_001736	NP_001727		tolerated(0.08)	0,1	C5AR1_HUMAN	C5AR1	HGNC	P21730	C5AR_HUMAN		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)			2	312	+		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	UPI0000202756	88			Helical; Name=2; (Potential).		SNV	C5AR1,missense_variant,p.Ala88Val,ENST00000355085,NM_001736.3;C5AR1,5_prime_UTR_variant,,ENST00000594787,;	uc002pgj.1	c.263C>T	285/2311	2	2			c.263C>T						19	SNP	c.(262-264)GCG>GTG	26	26			ovary(2)|central_nervous_system(1)|skin(1)	4	Broad	complement component 5 receptor 1			47823297		0.602	ENSG00000197405	2235	g.chr19:47823297C>T	activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity							150.672443	KEEP	36	32	-1	91	86	36	32	-1	160.981961	91	86	0.273543	1	0	0	0	0	1	0	0	0	--	--		0	T				218	GBM-28-5209-TP	p.A88V	C	TCCTGCCTGGCGCTGCCCATC	NM_001736	NP_001727	47823297	P21730	C5AR_HUMAN	0		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)	2	312	+	T	T		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	Missense_Mutation	88			Helical; Name=2; (Potential).			
C5orf34	375444	broad.mit.edu	GRCh37	5	43509299	43509299	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-02-2470-01	TCGA-02-2470-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306862.2:c.143A>C	p.Glu48Ala	p.E48A	ENST00000306862	NM_198566.2	48	gAa/gCa	0			1			G	E/A	uc003jnz.1	protein_coding	YES	CCDS3946.1			143/1917									breast(1)	1	c.(142-144)GAA>GCA			Pfam_domain:PF15025	hypothetical protein LOC375444				ENSP00000303490		13-Feb									COSM3410292	13-Feb	.		ENST00000306862	Transcript						ENSG00000172244	g.chr5:43509299T>G	24738			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=CE034_HUMAN&rb=7&re=584&var=E48A	NA	getma.org/?cm=var&var=hg19,5,43509299,T,G&fts=all	E48A	--	--	1																																		C5orf34_uc011cpx.1_Intron	1	1		benign(0.031)	p.E48A	NM_198566	NP_940968		deleterious(0.01)	1	CE034_HUMAN	C5orf34	HGNC	Q96MH7	CE034_HUMAN			E9PBC3_HUMAN,B4E0D7_HUMAN		3	460	-	Lung NSC(6;2.07e-05)		UPI000013EB9E	48					SNV	C5orf34,missense_variant,p.Glu48Ala,ENST00000306862,NM_198566.2;C5orf34,intron_variant,,ENST00000509489,;RP11-159F24.3,splice_region_variant,,ENST00000505645,;RP11-159F24.6,upstream_gene_variant,,ENST00000512498,;C5orf34,intron_variant,,ENST00000514462,;C5orf34,upstream_gene_variant,,ENST00000503655,;	uc003jnz.1	c.143A>C	519/2507	4	4			c.143A>C						5	SNP	c.(142-144)GAA>GCA	17	17			breast(1)	1	Broad	hypothetical protein LOC375444			43509299		0.328	ENSG00000172244	2247	g.chr5:43509299T>G										-37.734066	KEEP	3	2	-1	102	96	3	2	-1	7.174503	102	96	0.017544	1	0	0	0	0	1	0	0	0	--	--		0	G			C5orf34_uc011cpx.1_Intron	5	GBM-02-2470-TP	p.E48A	T	TTCTGGTTGTTCTAAAGGATG	NM_198566	NP_940968	43509299	Q96MH7	CE034_HUMAN	0			3	460	-	G	G	Lung NSC(6;2.07e-05)		Missense_Mutation	48						
C5orf34	0	broad.mit.edu	GRCh37	5	43487196	43487196	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-5960-01	TCGA-19-5960-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306862.2:c.1738G>T	p.Gly580Cys	p.G580C	ENST00000306862	NM_198566.2	580	Ggt/Tgt	0			1			A	G/C	uc003jnz.1	protein_coding	YES	CCDS3946.1			1738/1917									breast(1)	1	c.(1738-1740)GGT>TGT				hypothetical protein LOC375444				ENSP00000303490		13/13									COSM3410291	13/13	.		ENST00000306862	Transcript						ENSG00000172244	g.chr5:43487196C>A	24738			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=CE034_HUMAN&rb=7&re=584&var=G580C	NA	getma.org/?cm=var&var=hg19,5,43487196,C,A&fts=all	G580C	--	--	1																																			1	1		probably_damaging(0.973)	p.G580C	NM_198566	NP_940968		deleterious(0.01)	1	CE034_HUMAN	C5orf34	HGNC	Q96MH7	CE034_HUMAN			E9PBC3_HUMAN,B4E0D7_HUMAN		14	2055	-	Lung NSC(6;2.07e-05)		UPI000013EB9E	580					SNV	C5orf34,missense_variant,p.Gly580Cys,ENST00000306862,NM_198566.2;C5orf28,upstream_gene_variant,,ENST00000500337,;C5orf28,upstream_gene_variant,,ENST00000397080,NM_022483.4;C5orf28,upstream_gene_variant,,ENST00000512085,;C5orf28,upstream_gene_variant,,ENST00000506860,;C5orf28,upstream_gene_variant,,ENST00000510130,;RP11-159F24.3,intron_variant,,ENST00000505645,;C5orf28,upstream_gene_variant,,ENST00000511525,;RP11-159F24.3,intron_variant,,ENST00000504469,;C5orf34,downstream_gene_variant,,ENST00000506213,;	uc003jnz.1	c.1738G>T	2114/2507	2	2			c.1738G>T						5	SNP	c.(1738-1740)GGT>TGT	33	33			breast(1)	1	Broad	hypothetical protein LOC375444			43487196		0.313	ENSG00000172244	2247	g.chr5:43487196C>A										37.460351	KEEP	2	12	0.857142857	18	14	2	12	0.857142857	38.680202	18	14	0.317073	1	0	0	0	0	1	0	0	0	--	--		0	A				178	GBM-19-5960-TP	p.G580C	C	TTTAGGATACCACTATTTTCT	NM_198566	NP_940968	43487196	Q96MH7	CE034_HUMAN	0			14	2055	-	A	A	Lung NSC(6;2.07e-05)		Missense_Mutation	580						
C5orf42	0	broad.mit.edu	GRCh37	5	37167302	37167302	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-32-1970-01	TCGA-32-1970-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000425232.2:c.7247A>T	p.Gln2416Leu	p.Q2416L	ENST00000425232	NM_023073.3	2416	cAa/cTa	0			1			A	Q/L	uc011cpa.1	protein_coding	YES	CCDS34146.2			7247/9594									ovary(4)|breast(2)|skin(1)	7	c.(7246-7248)CAA>CTA			hmmpanther:PTHR14492,hmmpanther:PTHR14492:SF2	hypothetical protein LOC65250				ENSP00000389014		35/52									COSM3410256,COSM3410255	35/52	.		ENST00000425232	Transcript	1					ENSG00000197603	g.chr5:37167302T>A	25801			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=CE042_HUMAN&rb=691&re=1730&var=Q1296L	NA	getma.org/?cm=var&var=hg19,5,37167302,T,A&fts=all	Q1296L	--	--	1																																		C5orf42_uc011coy.1_Missense_Mutation_p.Q916L|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.Q1491L	1,1	1		possibly_damaging(0.818)	p.Q2416L	NM_023073	NP_075561		deleterious(0.01)	1,1	CE042_HUMAN	C5orf42	HGNC	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)				35	7478	-	all_lung(31;0.000616)		UPI0001AAB3EA	2416					SNV	C5orf42,missense_variant,p.Gln1296Leu,ENST00000274258,;C5orf42,missense_variant,p.Gln2416Leu,ENST00000425232,NM_023073.3;C5orf42,missense_variant,p.Gln2416Leu,ENST00000508244,;C5orf42,missense_variant,p.Gln1464Leu,ENST00000514429,;C5orf42,missense_variant,p.Gln107Leu,ENST00000511824,;C5orf42,upstream_gene_variant,,ENST00000511210,;C5orf42,missense_variant,p.Gln1420Leu,ENST00000509849,;C5orf42,downstream_gene_variant,,ENST00000511781,;C5orf42,upstream_gene_variant,,ENST00000510830,;	uc011cpa.1	c.7247A>T	7478/11199	2	2			c.7247A>T						5	SNP	c.(7246-7248)CAA>CTA	30	30			ovary(4)|breast(2)|skin(1)	7	Broad	hypothetical protein LOC65250			37167302		0.313	ENSG00000197603	2254	g.chr5:37167302T>A										-13.585774	KEEP	3	1	-1	51	56	3	1	-1	8.374226	51	56	0.041237	1	0	0	0	0	1	0	0	0	--	--		0	A			C5orf42_uc011coy.1_Missense_Mutation_p.Q916L|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.Q1491L	228	GBM-32-1970-TP	p.Q2416L	T	TGGGATAAGTTGTGTTTTTTT	NM_023073	NP_075561	37167302	E9PH94	E9PH94_HUMAN	0	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		35	7478	-	A	A	all_lung(31;0.000616)		Missense_Mutation	2416						
C5orf42			GRCh37	5	37183582	37183582	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000425232.2:c.4701T>G	p.Pro1567=	p.P1567=	ENST00000425232	NM_023073.3	1567	ccT/ccG	0																																																																																																																																																																																																																																												
C5orf46	0	broad.mit.edu	GRCh37	5	147286057	147286057	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-16-0846-01	TCGA-16-0846-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318315.4:c.8T>G	p.Val3Gly	p.V3G	ENST00000318315	NM_206966.2	3	gTc/gGc	0			1			C	V/G	uc010jgp.2	protein_coding	YES	CCDS34267.1			8/264										0	c.(7-9)GTC>GGC			Pfam_domain:PF15144,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	hypothetical protein LOC389336 precursor				ENSP00000315370		4-Jan	0.000132				0.000156	9.23E-05	0.00115		rs767808813,COSM3748291	4-Jan	.		ENST00000318315	Transcript				extracellular region		ENSG00000178776	g.chr5:147286057A>C	33768			MODERATE								--	--	1																																		C5orf46_uc003lou.2_Missense_Mutation_p.V3G|C5orf46_uc003lov.3_Missense_Mutation_p.V3G	0,1	1		unknown(0)	p.V3G	NM_206966	NP_996849		deleterious(0.04)	0,1	CE046_HUMAN	C5orf46	HGNC	Q6UWT4	CE046_HUMAN					1	45	-			UPI000020CF20	3					SNV	C5orf46,missense_variant,p.Val3Gly,ENST00000515291,;C5orf46,missense_variant,p.Val3Gly,ENST00000318315,NM_206966.2;C5orf46,upstream_gene_variant,,ENST00000510432,;	uc010jgp.2	c.8T>G	9/506	3	3			c.8T>G						5	SNP	c.(7-9)GTC>GGC	10	10				0	Broad	hypothetical protein LOC389336 precursor			147286057		0.453	ENSG00000178776	2258	g.chr5:147286057A>C		extracellular region								3.594856	KEEP	14	6	-1	17	20	14	6	-1	6.58569	17	20	0.216216	1	0	0	0	0	1	0	0	0	--	--		0	C			C5orf46_uc003lou.2_Missense_Mutation_p.V3G|C5orf46_uc003lov.3_Missense_Mutation_p.V3G	155	GBM-16-0846-TP	p.V3G	A	AAGTACTGAGACAGCCATTCT	NM_206966	NP_996849	147286057	Q6UWT4	CE046_HUMAN	0			1	45	-	C	C			Missense_Mutation	3						
C5orf48	0	broad.mit.edu	GRCh37	5	125971812	125971812	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5214-01	TCGA-28-5214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357147.3:c.284G>A	p.Arg95His	p.R95H	ENST00000357147	NM_207408.1	95	cGt/cAt	0		A:0	1	A:0		A	R/H	uc003kub.1	protein_coding	YES	CCDS4139.1			284/405									ovary(1)	1	c.(283-285)CGT>CAT			Pfam_domain:PF14983	hypothetical protein LOC389320		A:0		ENSP00000349669	A:0.001	3-Mar	0.000272				0.00227	0.00024		0.000121	rs186319310,COSM3409692	3-Mar	common_variant		ENST00000357147	Transcript		A:0.0002				ENSG00000196900	g.chr5:125971812G>A	33767			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=CE048_HUMAN&rb=33&re=131&var=R95H	NA	getma.org/?cm=var&var=hg19,5,125971812,G,A&fts=all	R95H	--	--	1																																			0,1	1		benign(0.035)	p.R95H	NM_207408	NP_997291	A:0	deleterious(0.03)	0,1	CE048_HUMAN	C5orf48	HGNC	Q6ZNM6	CE048_HUMAN					3	297	+			UPI00001C11F4	95					SNV	C5orf48,missense_variant,p.Arg95His,ENST00000357147,NM_207408.1;C5orf48,non_coding_transcript_exon_variant,,ENST00000506701,;	uc003kub.1	c.284G>A	297/464	1	1			c.284G>A						5	SNP	c.(283-285)CGT>CAT	58	58			ovary(1)	1	Broad	hypothetical protein LOC389320			125971812		0.443	ENSG00000196900	2259	g.chr5:125971812G>A										-12.147426	KEEP	14	12	-1	165	168	14	12	-1	51.112059	165	168	0.073746	1	0	0	0	0	1	0	0	0	--	--		0	A				221	GBM-28-5214-TP	p.R95H	G	GGGGAAGATCGTAAAGTTGTC	NM_207408	NP_997291	125971812	Q6ZNM6	CE048_HUMAN	0			3	297	+	A	A			Missense_Mutation	95						
C6	0	broad.mit.edu	GRCh37	5	41196027	41196027	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-5960-01	TCGA-19-5960-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263413.3:c.454A>G	p.Ile152Val	p.I152V	ENST00000263413	NM_001115131.2	152	Att/Gtt	0			1			C	I/V	uc003jmk.2	protein_coding	YES	CCDS3936.1			454/2805									ovary(3)|central_nervous_system(2)|skin(2)	7	c.(454-456)ATT>GTT			Prints_domain:PR00764,Superfamily_domains:SSF57424,SMART_domains:SM00192,Pfam_domain:PF00057,Gene3D:1n7dA02,PROSITE_patterns:PS01209,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF23,PROSITE_profiles:PS50068	complement component 6 precursor				ENSP00000263413		18-May									COSM3410284	18-May	.		ENST00000263413	Transcript	1		complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	ENSG00000039537	g.chr5:41196027T>C	1339			MODERATE		1.945	medium	getma.org/?cm=msa&ty=f&p=CO6_HUMAN&rb=127&re=173&var=I152V	getma.org/pdb.php?prot=CO6_HUMAN&from=127&to=173&var=I152V	getma.org/?cm=var&var=hg19,5,41196027,T,C&fts=all	I152V	3.06	medium	1																																		C6_uc003jml.1_Missense_Mutation_p.I152V	1	1		possibly_damaging(0.519)	p.I152V	NM_000065	NP_000056		tolerated(0.06)	1	CO6_HUMAN	C6	HGNC	P13671	CO6_HUMAN			C9JX36_HUMAN,C9JC72_HUMAN		5	664	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	UPI000013D401	152			LDL-receptor class A.		SNV	C6,missense_variant,p.Ile152Val,ENST00000263413,NM_001115131.2;C6,missense_variant,p.Ile152Val,ENST00000337836,NM_000065.3;C6,downstream_gene_variant,,ENST00000417809,;	uc003jmk.2	c.454A>G	719/3661	3	3			c.454A>G						5	SNP	c.(454-456)ATT>GTT	54	54			ovary(3)|central_nervous_system(2)|skin(2)	7	Broad	complement component 6 precursor			41196027		0.358	ENSG00000039537	2267	g.chr5:41196027T>C	complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding							103.077939	KEEP	20	22	-1	12	31	20	22	-1	103.221844	12	31	0.452055	1	0	0	0	0	1	0	0	0	3.06	medium		0	C			C6_uc003jml.1_Missense_Mutation_p.I152V	178	GBM-19-5960-TP	p.I152V	T	TTTCTGGCAATGCAGCGGCCT	NM_000065	NP_000056	41196027	P13671	CO6_HUMAN	0			5	664	-	C	C		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	Missense_Mutation	152			LDL-receptor class A.			
C6	0	broad.mit.edu	GRCh37	5	41149449	41149449	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1986-01	TCGA-32-1986-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263413.3:c.2517C>T	p.Asp839=	p.D839=	ENST00000263413	NM_001115131.2	839	gaC/gaT	0		A:0.0023	1	A:0		A	D	uc003jmk.2	protein_coding	YES	CCDS3936.1			2517/2805									ovary(3)|central_nervous_system(2)|skin(2)	7	c.(2515-2517)GAC>GAT			SMART_domains:SM00057,PROSITE_profiles:PS51465	complement component 6 precursor		A:0		ENSP00000263413	A:0.001	17/18	6.59E-05	0.000288				3.00E-05		0.000182	rs567176554,COSM1166373	17/18	.		ENST00000263413	Transcript	1	A:0.0008	complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	ENSG00000039537	g.chr5:41149449G>A	1339			LOW								--	--	1																																		C6_uc003jml.1_Silent_p.D839D	0,1	1			p.D839D	NM_000065	NP_000056	A:0		0,1	CO6_HUMAN	C6	HGNC	P13671	CO6_HUMAN			C9JX36_HUMAN,C9JC72_HUMAN		17	2727	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	UPI000013D401	839			C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.		SNV	C6,synonymous_variant,p.=,ENST00000263413,NM_001115131.2;C6,synonymous_variant,p.=,ENST00000337836,NM_000065.3;C6,downstream_gene_variant,,ENST00000461473,;	uc003jmk.2	c.2517C>T	2782/3661	1	1			c.2517C>T						5	SNP	c.(2515-2517)GAC>GAT	54	54			ovary(3)|central_nervous_system(2)|skin(2)	7	Broad	complement component 6 precursor			41149449		0.418	ENSG00000039537	2267	g.chr5:41149449G>A	complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding							-73.794672	KEEP	2	3	-1	165	198	2	3	-1	7.516709	165	198	0.016287	1	0	0	0	0	0	0	1	0	--	--		0	A			C6_uc003jml.1_Silent_p.D839D	233	GBM-32-1986-TP	p.D839D	G	ACTGGCGGCCGTCTTGGCAGG	NM_000065	NP_000056	41149449	P13671	CO6_HUMAN	0			17	2727	-	A	A		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	Silent	839			C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.			
C6orf10	0	broad.mit.edu	GRCh37	6	32260945	32260945	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-26-5133-01	TCGA-26-5133-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000447241.2:c.1505A>T	p.Glu502Val	p.E502V	ENST00000447241	NM_006781.3	502	gAa/gTa	0			1			A	E/V	uc011dpy.1	protein_coding	YES	CCDS34422.1			1505/1692									skin(1)	1	c.(1504-1506)GAA>GTA			hmmpanther:PTHR14368,hmmpanther:PTHR14368:SF6	chromosome 6 open reading frame 10				ENSP00000415517		23/23									COSM2156953	23/23	.		ENST00000447241	Transcript				integral to membrane		ENSG00000204296	g.chr6:32260945T>A	13922			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=CF010_HUMAN&rb=1&re=561&var=E502V	NA	getma.org/?cm=var&var=hg19,6,32260945,T,A&fts=all	E502V	--	--	1																																		C6orf10_uc011dpx.1_Intron	1	1		probably_damaging(0.991)	p.E502V	NM_006781	NP_006772		deleterious(0.03)	1	CF010_HUMAN	C6orf10	HGNC	Q5SRN2	CF010_HUMAN					12	1678	-			UPI0000470279	502			Lys-rich.		SNV	C6orf10,missense_variant,p.Glu501Val,ENST00000375015,;C6orf10,missense_variant,p.Glu500Val,ENST00000533191,NM_001286475.1,NM_001286474.1;C6orf10,missense_variant,p.Glu502Val,ENST00000447241,NM_006781.3;C6orf10,missense_variant,p.Glu500Val,ENST00000375007,;C6orf10,missense_variant,p.Glu486Val,ENST00000527965,;C6orf10,intron_variant,,ENST00000442822,;	uc011dpy.1	c.1505A>T	1678/2148	1	1			c.1505A>T						6	SNP	c.(1504-1506)GAA>GTA	64	64			skin(1)	1	Broad	chromosome 6 open reading frame 10			32260945		0.174	ENSG00000204296	2269	g.chr6:32260945T>A		integral to membrane								298.82811	KEEP	68	37	-1	71	45	68	37	-1	298.910004	71	45	0.479452	1	0	0	0	0	1	0	0	0	--	--		0	A			C6orf10_uc011dpx.1_Intron	182	GBM-26-5133-TP	p.E502V	T	tctctccttttctttatcatt	NM_006781	NP_006772	32260945	Q5SRN2	CF010_HUMAN	0			12	1678	-	A	A			Missense_Mutation	502			Lys-rich.			
C6orf15	29113	broad.mit.edu	GRCh37	6	31079167	31079167	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-02-2486-01	TCGA-02-2486-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259870.3:c.969G>T	p.Gln323His	p.Q323H	ENST00000259870	NM_014070.2	323	caG/caT	0			1			A	Q/H	uc003nsk.1	protein_coding	YES	CCDS4693.1			969/978										0	c.(967-969)CAG>CAT			hmmpanther:PTHR15817,hmmpanther:PTHR15817:SF2	STG protein precursor				ENSP00000259870		2-Feb									COSM3410930	2-Feb	.		ENST00000259870	Transcript						ENSG00000204542	g.chr6:31079167C>A	13927			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=CF015_HUMAN&rb=1&re=323&var=Q323H	NA	getma.org/?cm=var&var=hg19,6,31079167,C,A&fts=all	Q323H	--	--	1																																			1	1		possibly_damaging(0.891)	p.Q323H	NM_014070	NP_054789		deleterious(0)	1	CF015_HUMAN	C6orf15	HGNC	Q6UXA7	CF015_HUMAN			M1T2K5_HUMAN		2	969	-			UPI000000D748	323					SNV	C6orf15,missense_variant,p.Gln323His,ENST00000259870,NM_014070.2;CDSN,downstream_gene_variant,,ENST00000376288,NM_001264.4;PSORS1C1,upstream_gene_variant,,ENST00000259881,NM_014068.2;PSORS1C1,upstream_gene_variant,,ENST00000467107,;PSORS1C1,upstream_gene_variant,,ENST00000548049,;PSORS1C1,upstream_gene_variant,,ENST00000479581,;PSORS1C1,upstream_gene_variant,,ENST00000493289,;PSORS1C1,upstream_gene_variant,,ENST00000552747,;PSORS1C1,upstream_gene_variant,,ENST00000550838,;	uc003nsk.1	c.969G>T	973/1140	1	1			c.969G>T						6	SNP	c.(967-969)CAG>CAT	54	54				0	Broad	STG protein precursor			31079167		0.562	ENSG00000204542	2288	g.chr6:31079167C>A										-1.612932	KEEP	2	1	0.333333333	19	27	2	1	0.333333333	7.146525	19	27	0.066667	1	0	0	0	0	1	0	0	0	--	--		0	A				8	GBM-02-2486-TP	p.Q323H	C	TCTAGCCCCACTGCAACCTAG	NM_014070	NP_054789	31079167	Q6UXA7	CF015_HUMAN	0			2	969	-	A	A			Missense_Mutation	323						
C6ORF165	0	broad.mit.edu	GRCh37	6	88140868	88140868	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1034-01	TCGA-14-1034-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369562.4:c.1277C>T	p.Ala426Val	p.A426V	ENST00000369562	NM_001031743.2	426	gCa/gTa	0			1			T	A/V	uc003plv.2	protein_coding	YES	CCDS34498.1			1277/1869									central_nervous_system(1)	1	c.(1276-1278)GCA>GTA			Pfam_domain:PF12018,hmmpanther:PTHR21442,hmmpanther:PTHR21442:SF0	hypothetical protein LOC154313 isoform 1				ENSP00000358575		13-Oct									COSM2155193,COSM2155192	13-Oct	.		ENST00000369562	Transcript						ENSG00000272514	g.chr6:88140868C>T				MODERATE		-0.41	neutral	getma.org/?cm=msa&ty=f&p=CF165_HUMAN&rb=213&re=493&var=A426V	NA	getma.org/?cm=var&var=hg19,6,88140868,C,T&fts=all	A426V	--	--	1																																		C6orf165_uc003plw.2_Missense_Mutation_p.A238V|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.A426V	1,1	1		benign(0.005)	p.A426V	NM_001031743	NP_001026913		tolerated(0.31)	1,1		C6ORF165	Uniprot_gn	Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	Q8N771_HUMAN,H0UI21_HUMAN,D6RBZ4_HUMAN		10	1369	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	UPI00001A3AA5	426					SNV	C6ORF165,missense_variant,p.Ala426Val,ENST00000369562,NM_001031743.2;C6orf165,missense_variant,p.Ala426Val,ENST00000507897,;C6ORF165,3_prime_UTR_variant,,ENST00000489338,;C6ORF165,non_coding_transcript_exon_variant,,ENST00000296885,;	uc003plv.2	c.1277C>T	1389/2196	2	2			c.1277C>T						6	SNP	c.(1276-1278)GCA>GTA	43	43			central_nervous_system(1)	1	Broad	hypothetical protein LOC154313 isoform 1			88140868		0.378	ENSG00000272514	2293	g.chr6:88140868C>T										106.882614	KEEP	21	25	-1	75	59	21	25	-1	114.215737	75	59	0.275	1	0	0	0	0	1	0	0	0	--	--		0	T			C6orf165_uc003plw.2_Missense_Mutation_p.A238V|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.A426V	142	GBM-14-1034-TP	p.A426V	C	ACGTTTGCTGCAACAGATGGT	NM_001031743	NP_001026913	88140868	Q8IYR0	CF165_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.0419)	10	1369	+	T	T		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	Missense_Mutation	426						
C6orf195	0	broad.mit.edu	GRCh37	6	2623743	2623743	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-19-2624-01	TCGA-19-2624-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296847.3:c.314C>G	p.Ala105Gly	p.A105G	ENST00000296847	NM_152554.2	105	gCc/gGc	0			1			C	A/G	uc003mtw.2	protein_coding	YES	CCDS43416.1			314/384										0	c.(313-315)GCC>GGC				hypothetical protein LOC154386				ENSP00000296847		3-Mar									COSM2156190	3-Mar	.		ENST00000296847	Transcript						ENSG00000164385	g.chr6:2623743G>C	21600			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CF195_HUMAN&rb=1&re=127&var=A105G	NA	getma.org/?cm=var&var=hg19,6,2623743,G,C&fts=all	A105G	--	--	1																																			1	1		possibly_damaging(0.567)	p.A105G	NM_152554	NP_689767		tolerated_low_confidence(0.06)	1	CF195_HUMAN	C6orf195	HGNC	Q96MT4	CF195_HUMAN					3	1299	-	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	UPI000013E398	105					SNV	C6orf195,missense_variant,p.Ala105Gly,ENST00000296847,NM_152554.2;	uc003mtw.2	c.314C>G	838/2434	3	3			c.314C>G						6	SNP	c.(313-315)GCC>GGC	52	52				0	Broad	hypothetical protein LOC154386			2623743		0.547	ENSG00000164385	2302	g.chr6:2623743G>C										122.556887	KEEP	22	13	-1	17	11	22	13	-1	122.860329	17	11	0.576271	1	0	0	0	0	1	0	0	0	--	--		0	C				164	GBM-19-2624-TP	p.A105G	G	GCAGGGAGTGGCCTGGTCACT	NM_152554	NP_689767	2623743	Q96MT4	CF195_HUMAN	0			3	1299	-	C	C	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	Missense_Mutation	105						
C6orf203	51250		GRCh37	6	107372330	107372330	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0167-01	TCGA-06-0167-01																				ENST00000443043.1:c.628C>T	p.Arg210Trp	p.R210W	ENST00000443043	NM_001142470.1	210	Cgg/Tgg	0																																																																																																																																																																																																																																												
C6orf211	0	broad.mit.edu	GRCh37	6	151789616	151789616	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0145-01	TCGA-06-0145-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367294.3:c.697C>G	p.Leu233Val	p.L233V	ENST00000367294	NM_024573.1	233	Ctt/Gtt	0			1			G	L/V	uc003qok.1	protein_coding	YES	CCDS5233.1			697/1326										0	c.(697-699)CTT>GTT			hmmpanther:PTHR12260,hmmpanther:PTHR12260:SF1,Pfam_domain:PF01937,Superfamily_domains:SSF111321	hypothetical protein LOC79624				ENSP00000356263		5-May										5-May	.		ENST00000367294	Transcript					protein binding	ENSG00000146476	g.chr6:151789616C>G	17872			MODERATE		1.73	low	getma.org/?cm=msa&ty=f&p=CF211_HUMAN&rb=20&re=419&var=L233V	getma.org/pdb.php?prot=CF211_HUMAN&from=20&to=419&var=L233V	getma.org/?cm=var&var=hg19,6,151789616,C,G&fts=all	L233V	--	--	1																																		C6orf211_uc011ees.1_Missense_Mutation_p.L114V		1		possibly_damaging(0.609)	p.L233V	NM_024573	NP_078849		deleterious(0)		CF211_HUMAN	C6orf211	HGNC	Q9H993	CF211_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)	F5GZY1_HUMAN		5	956	+			UPI00000708C7	233					SNV	C6orf211,missense_variant,p.Leu233Val,ENST00000367294,NM_024573.1;C6orf211,missense_variant,p.Leu114Val,ENST00000545879,NM_001286562.1;C6orf211,downstream_gene_variant,,ENST00000483931,;C6orf211,3_prime_UTR_variant,,ENST00000494826,;	uc003qok.1	c.697C>G	956/2576	3	3			c.697C>G						6	SNP	c.(697-699)CTT>GTT	11	11				0	Broad	hypothetical protein LOC79624			151789616		0.328	ENSG00000146476	2306	g.chr6:151789616C>G			protein binding							36.118	KEEP	14	6	-1	78	55	14	6	-1	55.55212	78	55	0.130137	1	0	0	0	0	1	0	0	0	--	--		0	G			C6orf211_uc011ees.1_Missense_Mutation_p.L114V	23	GBM-06-0145-TP	p.L233V	C	TTGGTCATTGCTTAGCAATTG	NM_024573	NP_078849	151789616	Q9H993	CF211_HUMAN	0	BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)	5	956	+	G	G			Missense_Mutation	233						
C6orf211	0	broad.mit.edu	GRCh37	6	151789913	151789913	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-41-2575-01	TCGA-41-2575-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367294.3:c.994A>C	p.Asn332His	p.N332H	ENST00000367294	NM_024573.1	332	Aat/Cat	0			1			C	N/H	uc003qok.1	protein_coding	YES	CCDS5233.1			994/1326										0	c.(994-996)AAT>CAT			hmmpanther:PTHR12260,hmmpanther:PTHR12260:SF1,Pfam_domain:PF01937,Superfamily_domains:SSF111321	hypothetical protein LOC79624				ENSP00000356263		5-May									COSM3410665	5-May	.		ENST00000367294	Transcript					protein binding	ENSG00000146476	g.chr6:151789913A>C	17872			MODERATE		-0.805	neutral	getma.org/?cm=msa&ty=f&p=CF211_HUMAN&rb=20&re=419&var=N332H	getma.org/pdb.php?prot=CF211_HUMAN&from=20&to=419&var=N332H	getma.org/?cm=var&var=hg19,6,151789913,A,C&fts=all	N332H	--	--	1																																		C6orf211_uc011ees.1_Missense_Mutation_p.N213H	1	1		benign(0.058)	p.N332H	NM_024573	NP_078849		deleterious(0.02)	1	CF211_HUMAN	C6orf211	HGNC	Q9H993	CF211_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)	F5GZY1_HUMAN		5	1253	+			UPI00000708C7	332					SNV	C6orf211,missense_variant,p.Asn332His,ENST00000367294,NM_024573.1;C6orf211,missense_variant,p.Asn213His,ENST00000545879,NM_001286562.1;C6orf211,downstream_gene_variant,,ENST00000483931,;C6orf211,downstream_gene_variant,,ENST00000494826,;	uc003qok.1	c.994A>C	1253/2576	3	3			c.994A>C						6	SNP	c.(994-996)AAT>CAT	3	3				0	Broad	hypothetical protein LOC79624			151789913		0.383	ENSG00000146476	2306	g.chr6:151789913A>C			protein binding							-19.213955	KEEP	3	4	-1	95	73	3	4	-1	17.58121	95	73	0.042683	1	0	0	0	0	1	0	0	0	--	--		0	C			C6orf211_uc011ees.1_Missense_Mutation_p.N213H	253	GBM-41-2575-TP	p.N332H	A	GGTTTACCACAATCATATATT	NM_024573	NP_078849	151789913	Q9H993	CF211_HUMAN	0	BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)	5	1253	+	C	C			Missense_Mutation	332						
C6orf223	221416		GRCh37	6	43970503	43970504	+	inframe_insertion	In_Frame_Ins	INS	-	-	GCG			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000336600.5:c.395_397dup	p.Ala132dup	p.A132dup	ENST00000336600	NM_001171992.1	132	-/GCG	0																																																																																																																																																																																																																																												
C6orf89	0	broad.mit.edu	GRCh37	6	36891125	36891125	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A			TCGA-41-3393-01	TCGA-41-3393-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373685.1:c.952T>A	p.Tyr318Asn	p.Y318N	ENST00000373685		318	Tat/Aat	0			1			A	Y/N	uc003omx.2	protein_coding		CCDS69100.1			952/1044									ovary(1)	1	c.(952-954)TAT>AAT				hypothetical protein LOC221477				ENSP00000362789		9-Sep									COSM3411039	9-Sep	.		ENST00000373685	Transcript				integral to membrane		ENSG00000198663	g.chr6:36891125T>A	21114			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=CF089_HUMAN&rb=201&re=347&var=Y318N	NA	getma.org/?cm=var&var=hg19,6,36891125,T,A&fts=all	Y318N	--	--	1																																		C6orf89_uc003omv.2_Missense_Mutation_p.Y212N|C6orf89_uc003omw.2_Missense_Mutation_p.Y325N|C6orf89_uc011dtr.1_Missense_Mutation_p.Y212N|C6orf89_uc003omy.2_Missense_Mutation_p.Y152N	1			probably_damaging(0.947)	p.Y318N	NM_152734	NP_689947		deleterious(0)	1	CF089_HUMAN	C6orf89	HGNC	Q6UWU4	CF089_HUMAN			Q5TDC5_HUMAN		9	1236	+			UPI0000048F18	318					SNV	C6orf89,missense_variant,p.Tyr318Asn,ENST00000480824,NM_001286637.1,NM_001286635.1,NM_001286636.1;C6orf89,missense_variant,p.Tyr212Asn,ENST00000359359,;C6orf89,missense_variant,p.Tyr212Asn,ENST00000510325,;C6orf89,missense_variant,p.Tyr318Asn,ENST00000373685,;C6orf89,missense_variant,p.Tyr325Asn,ENST00000355190,NM_152734.3;	uc003omx.2	c.952T>A	1227/1400	1	1			c.952T>A						6	SNP	c.(952-954)TAT>AAT	54	54			ovary(1)	1	Broad	hypothetical protein LOC221477			36891125		0.552	ENSG00000198663	2324	g.chr6:36891125T>A		integral to membrane								61.555586	KEEP	13	10	-1	22	27	13	10	-1	63.104632	22	27	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	A			C6orf89_uc003omv.2_Missense_Mutation_p.Y212N|C6orf89_uc003omw.2_Missense_Mutation_p.Y325N|C6orf89_uc011dtr.1_Missense_Mutation_p.Y212N|C6orf89_uc003omy.2_Missense_Mutation_p.Y152N	255	GBM-41-3393-TP	p.Y318N	T	CCCTCAAGGCTATGTCGACAC	NM_152734	NP_689947	36891125	Q6UWU4	CF089_HUMAN	0			9	1236	+	A	A			Missense_Mutation	318						
C7	0	broad.mit.edu	GRCh37	5	40976859	40976859	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1970-01	TCGA-32-1970-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313164.9:c.2082G>A	p.Pro694=	p.P694=	ENST00000313164	NM_000587.2	694	ccG/ccA	0	A:0		1			A	P	uc003jmh.2	protein_coding	YES	CCDS47201.1			2082/2532										0	c.(2080-2082)CCG>CCA				complement component 7 precursor			A:0.0001	ENSP00000322061		16/18	1.66E-05					9.12E-05			rs367904690,COSM3410275	16/18	.		ENST00000313164	Transcript	1		complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		ENSG00000112936	g.chr5:40976859G>A	1346			LOW								--	--	1																																		C7_uc011cpn.1_RNA	0,1	1			p.P694P	NM_000587	NP_000578			0,1	CO7_HUMAN	C7	HGNC	P10643	CO7_HUMAN					16	2196	+		Ovarian(839;0.0112)	UPI000020CA08	694					SNV	C7,synonymous_variant,p.=,ENST00000313164,NM_000587.2;C7,non_coding_transcript_exon_variant,,ENST00000494960,;C7,non_coding_transcript_exon_variant,,ENST00000464864,;C7,non_coding_transcript_exon_variant,,ENST00000513922,;C7,downstream_gene_variant,,ENST00000486779,;	uc003jmh.2	c.2082G>A	2441/4257	1	1			c.2082G>A						5	SNP	c.(2080-2082)CCG>CCA	49	49				0	Broad	complement component 7 precursor			40976859		0.433	ENSG00000112936	2326	g.chr5:40976859G>A	complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex								25.800126	KEEP	4	5	-1	6	3	4	5	-1	25.800126	6	3	0.5	1	0	0	0	0	0	0	1	0	--	--		0	A			C7_uc011cpn.1_RNA	228	GBM-32-1970-TP	p.P694P	G	TAGAAAATCCGTTAACACAGG	NM_000587	NP_000578	40976859	P10643	CO7_HUMAN	0			16	2196	+	A	A		Ovarian(839;0.0112)	Silent	694						
INTS15	0	broad.mit.edu	GRCh37	7	6630085	6630085	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-27-2528-01	TCGA-27-2528-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344417.5:c.171G>C	p.Lys57Asn	p.K57N	ENST00000344417	NM_024067.2	57	aaG/aaC	0			1			C	K/N	uc003sqo.1	protein_coding	YES	CCDS5353.1			171/1350									ovary(1)	1	c.(169-171)AAG>AAC			hmmpanther:PTHR14540,Pfam_domain:PF14964	hypothetical protein LOC79034				ENSP00000340220		6-Jan									COSM3412242	6-Jan	.		ENST00000344417	Transcript						ENSG00000146576	g.chr7:6630085G>C	21702			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=CG026_HUMAN&rb=1&re=447&var=K57N	NA	getma.org/?cm=var&var=hg19,7,6630085,G,C&fts=all	K57N	--	--	1																																		uc011jwy.1_5'Flank|C7orf26_uc003sqp.1_Missense_Mutation_p.K57N|C7orf26_uc003sqq.1_5'UTR	1	1		possibly_damaging(0.895)	p.K57N	NM_024067	NP_076972		tolerated(0.06)	1	CG026_HUMAN	C7orf26	HGNC	Q96N11	CG026_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)			1	171	+		Ovarian(82;0.232)	UPI000003ED42	57					SNV	C7orf26,missense_variant,p.Lys57Asn,ENST00000344417,NM_024067.2;C7orf26,missense_variant,p.Lys57Asn,ENST00000359073,;ZDHHC4,downstream_gene_variant,,ENST00000396706,;ZDHHC4,downstream_gene_variant,,ENST00000396713,NM_001134387.1;ZDHHC4,downstream_gene_variant,,ENST00000396709,;ZDHHC4,downstream_gene_variant,,ENST00000396707,NM_001134388.1;ZDHHC4,downstream_gene_variant,,ENST00000405731,NM_001134389.1,NM_018106.3;ZDHHC4,downstream_gene_variant,,ENST00000335965,;AC079742.4,upstream_gene_variant,,ENST00000434951,;C7orf26,upstream_gene_variant,,ENST00000472693,;ZDHHC4,downstream_gene_variant,,ENST00000474738,;	uc003sqo.1	c.171G>C	438/2182	4	4			c.171G>C						7	SNP	c.(169-171)AAG>AAC	42	42			ovary(1)	1	Broad	hypothetical protein LOC79034			6630085		0.562	ENSG00000146576	2332	g.chr7:6630085G>C										8.888729	KEEP	3	2	-1	4	10	3	2	-1	10.168288	4	10	0.222222	1	0	0	0	0	1	0	0	0	--	--		0	C			uc011jwy.1_5'Flank|C7orf26_uc003sqp.1_Missense_Mutation_p.K57N|C7orf26_uc003sqq.1_5'UTR	205	GBM-27-2528-TP	p.K57N	G	AGGTGCCCAAGGAGCGCAGCG	NM_024067	NP_076972	6630085	Q96N11	CG026_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)	1	171	+	C	C		Ovarian(82;0.232)	Missense_Mutation	57						
C7orf31	0	broad.mit.edu	GRCh37	7	25182279	25182279	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283905.3:c.839C>T	p.Ser280Leu	p.S280L	ENST00000283905	NM_138811.3	280	tCg/tTg	0			1			A	S/L	uc003sxn.1	protein_coding		CCDS5394.1			839/1773										0	c.(838-840)TCG>TTG			hmmpanther:PTHR31393,Pfam_domain:PF15093	hypothetical protein LOC136895				ENSP00000283905		10-Aug	8.24E-06	9.80E-05							rs774680315,COSM1450123	10-Aug	.		ENST00000283905	Transcript						ENSG00000153790	g.chr7:25182279G>A	21722			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=CG031_HUMAN&rb=1&re=443&var=S280L	NA	getma.org/?cm=var&var=hg19,7,25182279,G,A&fts=all	S280L	--	--	1																																		C7orf31_uc003sxm.1_Missense_Mutation_p.S122L	0,1			probably_damaging(0.998)	p.S280L	NM_138811	NP_620166		deleterious(0)	0,1	CG031_HUMAN	C7orf31	HGNC	Q8N865	CG031_HUMAN			C9JTB1_HUMAN,C9JF06_HUMAN,C9J431_HUMAN		8	1400	-			UPI000013DD61	280					SNV	C7orf31,missense_variant,p.Ser280Leu,ENST00000409280,;C7orf31,missense_variant,p.Ser280Leu,ENST00000283905,NM_138811.3;	uc003sxn.1	c.839C>T	1502/2673	1	1			c.839C>T						7	SNP	c.(838-840)TCG>TTG	61	61				0	Broad	hypothetical protein LOC136895			25182279		0.368	ENSG00000153790	2338	g.chr7:25182279G>A										86.241809	KEEP	30	12	-1	67	84	30	12	-1	99.072436	67	84	0.210843	1	0	0	0	0	1	0	0	0	--	--		0	A			C7orf31_uc003sxm.1_Missense_Mutation_p.S122L	159	GBM-19-1390-TP	p.S280L	G	ATGAGTGTACGAAGTGAGCCA	NM_138811	NP_620166	25182279	Q8N865	CG031_HUMAN	0			8	1400	-	A	A			Missense_Mutation	280						
C7orf33	0	broad.mit.edu	GRCh37	7	148288176	148288176	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4928-01	TCGA-76-4928-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307003.2:c.159C>T	p.Gly53=	p.G53=	ENST00000307003	NM_145304.2	53	ggC/ggT	0			1			T	G	uc003wew.2	protein_coding	YES	CCDS5890.1			159/534									central_nervous_system(1)	1	c.(157-159)GGC>GGT				hypothetical protein LOC202865				ENSP00000304071		3-Jan	1.65E-05					3.00E-05			rs549712040,COSM243403	3-Jan	.		ENST00000307003	Transcript						ENSG00000170279	g.chr7:148288176C>T	21724			LOW								--	--	1																																			0,1	1			p.G53G	NM_145304	NP_660347			0,1	CG033_HUMAN	C7orf33	HGNC	Q8WU49	CG033_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)				1	520	+	Melanoma(164;0.15)		UPI00000707BF	53					SNV	C7orf33,synonymous_variant,p.=,ENST00000307003,NM_145304.2;	uc003wew.2	c.159C>T	520/1354	1	1			c.159C>T						7	SNP	c.(157-159)GGC>GGT	5	5			central_nervous_system(1)	1	Broad	hypothetical protein LOC202865			148288176		0.512	ENSG00000170279	2339	g.chr7:148288176C>T										-14.911438	KEEP	8	9	-1	103	157	8	9	-1	27.661858	103	157	0.071429	1	0	0	0	0	0	0	1	0	--	--		0	T				268	GBM-76-4928-TP	p.G53G	C	ACGTTAGGGGCGGTCCAGGTC	NM_145304	NP_660347	148288176	Q8WU49	CG033_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		1	520	+	T	T	Melanoma(164;0.15)		Silent	53						
C7orf43			GRCh37	7	99753440	99753440	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000316937.3:c.1249C>T	p.Leu417=	p.L417=	ENST00000316937	NM_018275.3	417	Ctg/Ttg	0																																																																																																																																																																																																																																												
C7orf57	0	broad.mit.edu	GRCh37	7	48092478	48092478	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000348904.3:c.787C>A	p.Leu263Ile	p.L263I	ENST00000348904	NM_001100159.2	263	Ctc/Atc	0			1			A	L/I	uc003toh.3	protein_coding	YES	CCDS47583.1			787/888									ovary(1)	1	c.(787-789)CTC>ATC			hmmpanther:PTHR31097,hmmpanther:PTHR31097:SF1	hypothetical protein LOC136288				ENSP00000335500		9-Jul									COSM3412113,COSM3412114	9-Jul	.		ENST00000348904	Transcript						ENSG00000164746	g.chr7:48092478C>A	22247			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=CG057_HUMAN&rb=1&re=293&var=L263I	NA	getma.org/?cm=var&var=hg19,7,48092478,C,A&fts=all	L263I	--	--	1																																		C7orf57_uc003toi.3_Missense_Mutation_p.L121I	1,1	1		benign(0.146)	p.L263I	NM_001100159	NP_001093629		tolerated_low_confidence(0.26)	1,1	CG057_HUMAN	C7orf57	HGNC	Q8NEG2	CG057_HUMAN					7	999	+			UPI00001C1E6B	263					SNV	C7orf57,missense_variant,p.Leu263Ile,ENST00000348904,NM_001100159.2;C7orf57,missense_variant,p.Leu263Ile,ENST00000539619,;C7orf57,missense_variant,p.Leu308Ile,ENST00000430738,;C7orf57,missense_variant,p.Leu292Ile,ENST00000420324,NM_001267865.1;C7orf57,missense_variant,p.Leu125Ile,ENST00000435376,NM_001267866.1;	uc003toh.3	c.787C>A	999/2125	2	2			c.787C>A						7	SNP	c.(787-789)CTC>ATC	46	46			ovary(1)	1	Broad	hypothetical protein LOC136288			48092478		0.572	ENSG00000164746	2355	g.chr7:48092478C>A										-2.05535	KEEP	6	6	0.5	67	86	6	6	0.5	22.011548	67	86	0.081481	1	0	0	0	0	1	0	0	0	--	--		0	A			C7orf57_uc003toi.3_Missense_Mutation_p.L121I	246	GBM-32-4211-TP	p.L263I	C	TGCAGCCAGGCTCCAGGATGC	NM_001100159	NP_001093629	48092478	Q8NEG2	CG057_HUMAN	0			7	999	+	A	A			Missense_Mutation	263						
C7orf57	136288		GRCh37	7	48081010	48081010	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000348904.3:c.135C>G	p.Ser45Arg	p.S45R	ENST00000348904	NM_001100159.2	45	agC/agG	0																																																																																																																																																																																																																																												
C7orf60	0	broad.mit.edu	GRCh37	7	112461814	112461814	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-4935-01	TCGA-76-4935-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297145.4:c.1203A>G	p.Ile401Met	p.I401M	ENST00000297145	NM_152556.2	401	atA/atG	0			1			C	I/M	uc003vgo.1	protein_coding	YES	CCDS43634.1			1203/1218									ovary(2)|skin(1)	3	c.(1201-1203)ATA>ATG				hypothetical protein LOC154743				ENSP00000297145		5-May									COSM3411481	5-May	.		ENST00000297145	Transcript						ENSG00000164603	g.chr7:112461814T>C	26475			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=CG060_HUMAN&rb=335&re=405&var=I401M	NA	getma.org/?cm=var&var=hg19,7,112461814,T,C&fts=all	I401M	--	--	1																																		C7orf60_uc011kms.1_Missense_Mutation_p.I427M	1	1		benign(0.33)	p.I401M	NM_152556	NP_689769		deleterious_low_confidence(0)	1	BMT2_HUMAN	C7orf60	HGNC	Q1RMZ1	CG060_HUMAN					5	1330	-			UPI000020F946	401					SNV	C7orf60,missense_variant,p.Ile401Met,ENST00000297145,NM_152556.2;C7orf60,missense_variant,p.Ile383Met,ENST00000432572,;C7orf60,downstream_gene_variant,,ENST00000485446,;	uc003vgo.1	c.1203A>G	1369/3981	4	4			c.1203A>G						7	SNP	c.(1201-1203)ATA>ATG	35	35			ovary(2)|skin(1)	3	Broad	hypothetical protein LOC154743			112461814		0.358	ENSG00000164603	2358	g.chr7:112461814T>C										-71.464017	KEEP	4	4	-1	189	188	4	4	-1	15.453079	189	188	0.02071	1	0	0	0	0	1	0	0	0	--	--		0	C			C7orf60_uc011kms.1_Missense_Mutation_p.I427M	273	GBM-76-4935-TP	p.I401M	T	TTAAAAGTAATATGGGGTCTT	NM_152556	NP_689769	112461814	Q1RMZ1	CG060_HUMAN	0			5	1330	-	C	C			Missense_Mutation	401						
C7orf62	0	broad.mit.edu	GRCh37	7	88423665	88423665	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297203.2:c.592G>A	p.Asp198Asn	p.D198N	ENST00000297203	NM_152706.3	198	Gat/Aat	0			1			T	D/N	uc003ujv.2	protein_coding	YES	CCDS34678.1			592/762										0	c.(592-594)GAT>AAT				hypothetical protein LOC219557				ENSP00000297203		2-Feb	1.65E-05					3.00E-05			rs774856236,COSM136606	2-Feb	.		ENST00000297203	Transcript						ENSG00000164645	g.chr7:88423665C>T	22402			MODERATE		2.28	medium	getma.org/?cm=msa&ty=f&p=CG062_HUMAN&rb=24&re=246&var=D198N	NA	getma.org/?cm=var&var=hg19,7,88423665,C,T&fts=all	D198N	--	--	1																																		ZNF804B_uc011khi.1_Intron	0,1	1		probably_damaging(0.948)	p.D198N	NM_152706	NP_689919		tolerated(0.1)	0,1	CG062_HUMAN	C7orf62	HGNC	Q8TBZ9	CG062_HUMAN	STAD - Stomach adenocarcinoma(171;0.229)				2	774	-	Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169)		UPI000005034C	198					SNV	C7orf62,missense_variant,p.Asp198Asn,ENST00000297203,NM_152706.3;ZNF804B,intron_variant,,ENST00000333190,NM_181646.2;	uc003ujv.2	c.592G>A	778/1023	1	1			c.592G>A						7	SNP	c.(592-594)GAT>AAT	1	1				0	Broad	hypothetical protein LOC219557			88423665		0.423	ENSG00000164645	9375	g.chr7:88423665C>T										141.40149	KEEP	31	21	-1	48	54	31	21	-1	144.53387	48	54	0.344828	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF804B_uc011khi.1_Intron	177	GBM-19-5959-TP	p.D198N	C	TGTAAGTTATCGCCTGGTCCT	NM_152706	NP_689919	88423665	Q8TBZ9	CG062_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.229)		2	774	-	T	T	Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169)		Missense_Mutation	198						
C7orf65	0	broad.mit.edu	GRCh37	7	47698593	47698593	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-28-5216-01	TCGA-28-5216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408988.2:c.223C>A	p.Leu75Ile	p.L75I	ENST00000408988	NM_001123065.1	75	Cta/Ata	0			1			A	L/I	uc010kyp.1	protein_coding	YES	CCDS43580.1			223/456										0	c.(223-225)CTA>ATA				hypothetical protein LOC401335				ENSP00000386198		3-Mar									COSM3412105	3-Mar	.		ENST00000408988	Transcript						ENSG00000221845	g.chr7:47698593C>A	34432			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CG065_HUMAN&rb=1&re=151&var=L75I	NA	getma.org/?cm=var&var=hg19,7,47698593,C,A&fts=all	L75I	--	--	1																																			1	1		possibly_damaging(0.567)	p.L75I	NM_001123065	NP_001116537		deleterious_low_confidence(0)	1	CG065_HUMAN	C7orf65	HGNC	Q6ZTY9	CG065_HUMAN					3	258	+			UPI00001C0C15	75					SNV	C7orf65,missense_variant,p.Leu75Ile,ENST00000408988,NM_001123065.1;	uc010kyp.1	c.223C>A	258/2911	2	2			c.223C>A						7	SNP	c.(223-225)CTA>ATA	45	45				0	Broad	hypothetical protein LOC401335			47698593		0.502	ENSG00000221845	2362	g.chr7:47698593C>A										120.159343	KEEP	19	26	0.577777778	24	30	19	26	0.577777778	120.396667	24	30	0.445652	1	0	0	0	0	1	0	0	0	--	--		0	A				223	GBM-28-5216-TP	p.L75I	C	CAGGGAGCTGCTATTTCTGTT	NM_001123065	NP_001116537	47698593	Q6ZTY9	CG065_HUMAN	0			3	258	+	A	A			Missense_Mutation	75						
C7orf65	0	broad.mit.edu	GRCh37	7	47698751	47698751	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-41-2571-01	TCGA-41-2571-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408988.2:c.381G>T	p.Lys127Asn	p.K127N	ENST00000408988	NM_001123065.1	127	aaG/aaT	0			1			T	K/N	uc010kyp.1	protein_coding	YES	CCDS43580.1			381/456										0	c.(379-381)AAG>AAT				hypothetical protein LOC401335				ENSP00000386198		3-Mar									COSM3412106	3-Mar	.		ENST00000408988	Transcript						ENSG00000221845	g.chr7:47698751G>T	34432			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CG065_HUMAN&rb=1&re=151&var=K127N	NA	getma.org/?cm=var&var=hg19,7,47698751,G,T&fts=all	K127N	--	--	1																																			1	1		possibly_damaging(0.607)	p.K127N	NM_001123065	NP_001116537		deleterious_low_confidence(0)	1	CG065_HUMAN	C7orf65	HGNC	Q6ZTY9	CG065_HUMAN					3	416	+			UPI00001C0C15	127					SNV	C7orf65,missense_variant,p.Lys127Asn,ENST00000408988,NM_001123065.1;	uc010kyp.1	c.381G>T	416/2911	2	2			c.381G>T						7	SNP	c.(379-381)AAG>AAT	23	23				0	Broad	hypothetical protein LOC401335			47698751		0.552	ENSG00000221845	2362	g.chr7:47698751G>T										74.3334	KEEP	22	18	0.55	101	94	22	18	0.55	95.96728	101	94	0.172897	1	0	0	0	0	1	0	0	0	--	--		0	T				250	GBM-41-2571-TP	p.K127N	G	ACCCCTGGAAGGATGCTCAGG	NM_001123065	NP_001116537	47698751	Q6ZTY9	CG065_HUMAN	0			3	416	+	T	T			Missense_Mutation	127						
C7orf66	0	broad.mit.edu	GRCh37	7	108524569	108524569	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-14-2554-01	TCGA-14-2554-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379007.2:c.21C>A	p.Pro7=	p.P7=	ENST00000379007	NM_001024607.1	7	ccC/ccA	0			1			T	P	uc003vfo.2	protein_coding	YES	CCDS34735.1			21/348									ovary(2)	2	c.(19-21)CCC>CCA				hypothetical protein LOC154907				ENSP00000368292		2-Jan									COSM3411474	2-Jan	.		ENST00000379007	Transcript				integral to membrane		ENSG00000205174	g.chr7:108524569G>T	33712			LOW								--	--	1																																			1	1			p.P7P	NM_001024607	NP_001019778			1	CG066_HUMAN	C7orf66	HGNC	A4D0T2	CG066_HUMAN					1	69	-			UPI0000160BC7	7					SNV	C7orf66,synonymous_variant,p.=,ENST00000379007,NM_001024607.1;	uc003vfo.2	c.21C>A	76/435	1	1			c.21C>A						7	SNP	c.(19-21)CCC>CCA	15	15			ovary(2)	2	Broad	hypothetical protein LOC154907			108524569		0.408	ENSG00000205174	2363	g.chr7:108524569G>T		integral to membrane								18.967668	KEEP	5	7	0.416666667	30	37	5	7	0.416666667	27.066661	30	37	0.15493	1	0	0	0	0	0	0	1	0	--	--		0	T				150	GBM-14-2554-TP	p.P7P	G	GACCATCACTGGGTGTCATCA	NM_001024607	NP_001019778	108524569	A4D0T2	CG066_HUMAN	0			1	69	-	T	T			Silent	7						
C7orf66	154907		GRCh37	7	108524200	108524200	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000379007.2:c.212G>A	p.Arg71His	p.R71H	ENST00000379007	NM_001024607.1	71	cGt/cAt	0																																																																																																																																																																																																																																												
C8A	731	broad.mit.edu	GRCh37	1	57383364	57383364	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0126-01	TCGA-06-0126-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361249.3:c.1730G>A	p.Arg577Gln	p.R577Q	ENST00000361249	NM_000562.2	577	cGg/cAg	0			1			A	R/Q	uc001cyo.2	protein_coding	YES	CCDS606.1			1730/1755									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(1729-1731)CGG>CAG			Gene3D:2.20.100.10,Pfam_domain:PF00090,Prints_domain:PR01705,PROSITE_profiles:PS50092,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF338,SMART_domains:SM00209,Superfamily_domains:SSF82895	complement component 8, alpha polypeptide				ENSP00000354458		11-Nov	4.12E-05	9.67E-05				4.51E-05		6.06E-05	rs775054168,COSM2149437	11-Nov	.		ENST00000361249	Transcript	1		complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		ENSG00000157131	g.chr1:57383364G>A	1352			MODERATE		0.41	neutral	getma.org/?cm=msa&ty=f&p=CO8A_HUMAN&rb=540&re=584&var=R577Q	getma.org/pdb.php?prot=CO8A_HUMAN&from=540&to=584&var=R577Q	getma.org/?cm=var&var=hg19,1,57383364,G,A&fts=all	R577Q	--	--	1																																			0,1	1		benign(0.075)	p.R577Q	NM_000562	NP_000553		tolerated(0.19)	0,1	CO8A_HUMAN	C8A	HGNC	P07357	CO8A_HUMAN					11	1862	+			UPI0000127C5A	577			TSP type-1 2.		SNV	C8A,missense_variant,p.Arg577Gln,ENST00000361249,NM_000562.2;	uc001cyo.2	c.1730G>A	1826/2356	1	1			c.1730G>A						1	SNP	c.(1729-1731)CGG>CAG	57	57			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	complement component 8, alpha polypeptide			57383364		0.557	ENSG00000157131	2367	g.chr1:57383364G>A	complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex								63.75548	KEEP	14	12	-1	29	19	14	12	-1	65.304579	29	19	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	A				13	GBM-06-0126-TP	p.R577Q	G	TGTCCAGGGCGGAAAGTACAG	NM_000562	NP_000553	57383364	P07357	CO8A_HUMAN	0			11	1862	+	A	A			Missense_Mutation	577			TSP type-1 2.			
C8A	0	broad.mit.edu	GRCh37	1	57341829	57341829	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6285-01	TCGA-76-6285-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361249.3:c.411C>T	p.Asp137=	p.D137=	ENST00000361249	NM_000562.2	137	gaC/gaT	0			1			T	D	uc001cyo.2	protein_coding	YES	CCDS606.1			411/1755									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(409-411)GAC>GAT			PROSITE_profiles:PS51412,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF338,Superfamily_domains:SSF57184	complement component 8, alpha polypeptide				ENSP00000354458		11-Apr	3.29E-05					1.50E-05	0.00111	0.000121	rs766644316,COSM3400902	11-Apr	.		ENST00000361249	Transcript	1		complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		ENSG00000157131	g.chr1:57341829C>T	1352			LOW								--	--	1																																			0,1	1			p.D137D	NM_000562	NP_000553			0,1	CO8A_HUMAN	C8A	HGNC	P07357	CO8A_HUMAN					4	543	+			UPI0000127C5A	137			MACPF.		SNV	C8A,synonymous_variant,p.=,ENST00000361249,NM_000562.2;	uc001cyo.2	c.411C>T	507/2356	1	1			c.411C>T						1	SNP	c.(409-411)GAC>GAT	11	11			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	complement component 8, alpha polypeptide			57341829		0.532	ENSG00000157131	2367	g.chr1:57341829C>T	complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex								95.519329	KEEP	13	19	-1	17	24	13	19	-1	95.600447	17	24	0.462687	1	0	0	0	0	0	0	1	0	--	--		0	T				280	GBM-76-6285-TP	p.D137D	C	GGGCCATTGACGAAGACTGCA	NM_000562	NP_000553	57341829	P07357	CO8A_HUMAN	0			4	543	+	T	T			Silent	137			MACPF.			
C8B	732	broad.mit.edu	GRCh37	1	57395177	57395177	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-0055-01	TCGA-02-0055-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371237.4:c.1676G>A	p.Gly559Glu	p.G559E	ENST00000371237	NM_000066.3	559	gGa/gAa	0			1			T	G/E	uc001cyp.2	protein_coding	YES	CCDS30730.1			1676/1776									central_nervous_system(2)|large_intestine(1)|ovary(1)	4	c.(1675-1677)GGA>GAA			PROSITE_profiles:PS50092,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF313,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895	complement component 8, beta polypeptide				ENSP00000360281		12-Dec									COSM2149032	12-Dec	.		ENST00000371237	Transcript	1		complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		ENSG00000021852	g.chr1:57395177C>T	1353			MODERATE		2.035	medium	getma.org/?cm=msa&ty=f&p=CO8B_HUMAN&rb=545&re=591&var=G559E	getma.org/pdb.php?prot=CO8B_HUMAN&from=545&to=591&var=G559E	getma.org/?cm=var&var=hg19,1,57395177,C,T&fts=all	G559E	--	--	1																																		C8B_uc010oon.1_Missense_Mutation_p.G497E|C8B_uc010ooo.1_Missense_Mutation_p.G507E	1	1		possibly_damaging(0.499)	p.G559E	NM_000066	NP_000057		tolerated(0.08)	1	CO8B_HUMAN	C8B	HGNC	P07358	CO8B_HUMAN			F5H7G1_HUMAN		12	1743	-			UPI000013C9B2	559			TSP type-1 2.		SNV	C8B,missense_variant,p.Gly507Glu,ENST00000543257,NM_001278543.1;C8B,missense_variant,p.Gly497Glu,ENST00000535057,NM_001278544.1;C8B,missense_variant,p.Gly559Glu,ENST00000371237,NM_000066.3;C8B,downstream_gene_variant,,ENST00000465658,;	uc001cyp.2	c.1676G>A	1743/2037	1	1			c.1676G>A						1	SNP	c.(1675-1677)GGA>GAA	7	7			central_nervous_system(2)|large_intestine(1)|ovary(1)	4	Broad	complement component 8, beta polypeptide			57395177		0.448	ENSG00000021852	2368	g.chr1:57395177C>T	complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex								122.64944	KEEP	23	27	-1	63	53	23	27	-1	128.402244	63	53	0.296774	1	0	0	0	0	1	0	0	0	--	--		0	T			C8B_uc010oon.1_Missense_Mutation_p.G497E|C8B_uc010ooo.1_Missense_Mutation_p.G507E	4	GBM-02-0055-TP	p.G559E	C	CTTACGTCTTCCAGAGCATGA	NM_000066	NP_000057	57395177	P07358	CO8B_HUMAN	0			12	1743	-	T	T			Missense_Mutation	559			TSP type-1 2.			
C8B	0	broad.mit.edu	GRCh37	1	57406638	57406638	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs41286844	byFrequency	TCGA-27-2523-01	TCGA-27-2523-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371237.4:c.1282C>T	p.Arg428Ter	p.R428*	ENST00000371237	NM_000066.3	428	Cga/Tga	0		A:0,A:0	1	A:0,A:0		A	R/*	uc001cyp.2	protein_coding	YES	CCDS30730.1			1282/1776						pathogenic			central_nervous_system(2)|large_intestine(1)|ovary(1)	4	c.(1282-1284)CGA>TGA			PROSITE_profiles:PS51412,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF313,Pfam_domain:PF01823,SMART_domains:SM00457	complement component 8, beta polypeptide		A:0,A:0		ENSP00000360281	A:0.003,A:0.003	12-Sep	0.00109	0.000192	0.000521		0.000306	0.00168	0.00223	0.000486	rs41286844,C8Bbase_D0010:g.26012C>T,COSM3400903	12-Sep	.		ENST00000371237	Transcript	1	A:0.0012	complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		ENSG00000021852	g.chr1:57406638G>A	1353			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,57406638,G,A&fts=all	R428*	--	--	1																																		C8B_uc010oon.1_Nonsense_Mutation_p.R366*|C8B_uc010ooo.1_Nonsense_Mutation_p.R376*	1,0,1	1			p.R428*	NM_000066	NP_000057	A:0.0031,A:0.0031		0,0,1	CO8B_HUMAN	C8B	HGNC	P07358	CO8B_HUMAN			F5H7G1_HUMAN		9	1349	-			UPI000013C9B2	428			MACPF.		SNV	C8B,stop_gained,p.Arg376Ter,ENST00000543257,NM_001278543.1;C8B,stop_gained,p.Arg366Ter,ENST00000535057,NM_001278544.1;C8B,stop_gained,p.Arg428Ter,ENST00000371237,NM_000066.3;	uc001cyp.2	c.1282C>T	1349/2037	5	1			c.1282C>T						1	SNP	c.(1282-1284)CGA>TGA	56	56			central_nervous_system(2)|large_intestine(1)|ovary(1)	4	Broad	complement component 8, beta polypeptide			57406638		0.587	ENSG00000021852	2368	g.chr1:57406638G>A	complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex								102.55565	KEEP	11	26	-1	8	21	11	26	-1	102.685124	8	21	0.548387	1	0	0	0	0	0	1	0	0	--	--		0	A			C8B_uc010oon.1_Nonsense_Mutation_p.R366*|C8B_uc010ooo.1_Nonsense_Mutation_p.R376*	201	GBM-27-2523-TP	p.R428*	G	GCCCCTCCTCGTACCAGGACC	NM_000066	NP_000057	57406638	P07358	CO8B_HUMAN	0			9	1349	-	A	A			Nonsense_Mutation	428			MACPF.			
C8B	0	broad.mit.edu	GRCh37	1	57425758	57425758	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01	TCGA-32-4210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371237.4:c.184C>T	p.Pro62Ser	p.P62S	ENST00000371237	NM_000066.3	62	Ccc/Tcc	0			1			A	P/S	uc001cyp.2	protein_coding	YES	CCDS30730.1			184/1776									central_nervous_system(2)|large_intestine(1)|ovary(1)	4	c.(184-186)CCC>TCC			hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF313,Gene3D:2.20.100.10	complement component 8, beta polypeptide				ENSP00000360281		12-Feb									COSM3400905	12-Feb	.		ENST00000371237	Transcript	1		complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		ENSG00000021852	g.chr1:57425758G>A	1353			MODERATE		1.92	medium	getma.org/?cm=msa&ty=f&p=CO8B_HUMAN&rb=1&re=114&var=P62S	getma.org/pdb.php?prot=CO8B_HUMAN&from=1&to=114&var=P62S	getma.org/?cm=var&var=hg19,1,57425758,G,A&fts=all	P62S	--	--	1																																		C8B_uc010oon.1_5'UTR|C8B_uc010ooo.1_Missense_Mutation_p.P10S	1	1		probably_damaging(0.987)	p.P62S	NM_000066	NP_000057		deleterious(0)	1	CO8B_HUMAN	C8B	HGNC	P07358	CO8B_HUMAN			F5H7G1_HUMAN		2	251	-			UPI000013C9B2	62					SNV	C8B,missense_variant,p.Pro10Ser,ENST00000543257,NM_001278543.1;C8B,missense_variant,p.Pro62Ser,ENST00000371237,NM_000066.3;C8B,5_prime_UTR_variant,,ENST00000535057,NM_001278544.1;RP5-1103B4.3,upstream_gene_variant,,ENST00000417420,;C8B,non_coding_transcript_exon_variant,,ENST00000494324,;C8B,non_coding_transcript_exon_variant,,ENST00000468990,;	uc001cyp.2	c.184C>T	251/2037	2	2			c.184C>T						1	SNP	c.(184-186)CCC>TCC	47	47			central_nervous_system(2)|large_intestine(1)|ovary(1)	4	Broad	complement component 8, beta polypeptide			57425758		0.498	ENSG00000021852	2368	g.chr1:57425758G>A	complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex								-30.778877	KEEP	2	2	-1	65	92	2	2	-1	6.603442	65	92	0.02649	1	0	0	0	0	1	0	0	0	--	--		0	A			C8B_uc010oon.1_5'UTR|C8B_uc010ooo.1_Missense_Mutation_p.P10S	245	GBM-32-4210-TP	p.P62S	G	CAATCAATGGGCATCAGGGTA	NM_000066	NP_000057	57425758	P07358	CO8B_HUMAN	0			2	251	-	A	A			Missense_Mutation	62						
C8orf58	541565	broad.mit.edu	GRCh37	8	22458597	22458597	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000289989.5:c.243C>T	p.Ala81=	p.A81=	ENST00000289989		81	gcC/gcT	0			1			T	A	uc003xce.2	protein_coding	YES	CCDS34862.1			243/1098									skin(1)	1	c.(241-243)GCC>GCT			Pfam_domain:PF15552	hypothetical protein LOC541565				ENSP00000289989		7-Feb	8.26E-06	0.000101							rs752279989,COSM3412919	7-Feb	.		ENST00000289989	Transcript						ENSG00000241852	g.chr8:22458597C>T	32233			LOW								--	--	1																																		C8orf58_uc011kzl.1_Silent_p.A81A|C8orf58_uc003xcf.2_Silent_p.A81A	0,1	1			p.A81A	NM_001013842	NP_001013864			0,1	CH058_HUMAN	C8orf58	HGNC	Q8NAV2	CH058_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)			2	355	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	UPI000022D4E7	81					SNV	C8orf58,synonymous_variant,p.=,ENST00000409586,NM_001013842.2,NM_173686.2,NM_001198827.1;C8orf58,synonymous_variant,p.=,ENST00000289989,;AC037459.4,synonymous_variant,p.=,ENST00000450780,;AC037459.4,3_prime_UTR_variant,,ENST00000447849,;CCAR2,upstream_gene_variant,,ENST00000308511,;PDLIM2,downstream_gene_variant,,ENST00000265810,NM_176871.3;CCAR2,upstream_gene_variant,,ENST00000389279,NM_021174.5;C8orf58,upstream_gene_variant,,ENST00000495957,;CCAR2,upstream_gene_variant,,ENST00000521837,;CCAR2,upstream_gene_variant,,ENST00000523801,;CCAR2,upstream_gene_variant,,ENST00000523349,;AC037459.4,downstream_gene_variant,,ENST00000430850,;C8orf58,upstream_gene_variant,,ENST00000475994,;CCAR2,upstream_gene_variant,,ENST00000521301,;C8orf58,non_coding_transcript_exon_variant,,ENST00000453427,;	uc003xce.2	c.243C>T	317/2016	2	2			c.243C>T						8	SNP	c.(241-243)GCC>GCT	35	35			skin(1)	1	Broad	hypothetical protein LOC541565			22458597		0.632	ENSG00000241852	2385	g.chr8:22458597C>T										50.394921	KEEP	12	6	-1	14	10	12	6	-1	50.668672	14	10	0.410256	1	0	0	0	0	0	0	1	0	--	--		0	T			C8orf58_uc011kzl.1_Silent_p.A81A|C8orf58_uc003xcf.2_Silent_p.A81A	12	GBM-06-0125-TP	p.A81A	C	GCCCCCTGGCCGCCTTACCGG	NM_001013842	NP_001013864	22458597	Q8NAV2	CH058_HUMAN	0		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	2	355	+	T	T		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	Silent	81						
C8orf76	84933	broad.mit.edu	GRCh37	8	124243741	124243743	+	inframe_deletion	In_Frame_Del	DEL	AAG	AAG	-			TCGA-06-0126-01	TCGA-06-0126-01	AAG	AAG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276704.4:c.612_614del	p.Phe205del	p.F205del	ENST00000276704	NM_032847.2	204	ttCTTt/ttt	0			1			-	FF/F	uc003yqc.1	protein_coding	YES	CCDS6341.1			612-614/1143									ovary(2)	2	c.(610-615)TTCTTT>TTT			hmmpanther:PTHR31919,hmmpanther:PTHR31919:SF1	hypothetical protein LOC84933				ENSP00000276704		6-Apr									COSM2149418	6-Apr	.		ENST00000276704	Transcript					binding	ENSG00000189376	g.chr8:124243741_124243743delAAG	25924			MODERATE								--	--	1																																		C8orf76_uc003yqd.2_In_Frame_Del_p.172_173FF>F	1	1			p.204_205FF>F	NM_032847	NP_116236			1	CH076_HUMAN	C8orf76	HGNC	Q96K31	CH076_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)				4	643_645	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		UPI000006E851	204_205					deletion	C8orf76,inframe_deletion,p.Phe205del,ENST00000276704,NM_032847.2;ZHX1-C8ORF76,inframe_deletion,p.Phe173del,ENST00000357082,NM_001204180.1;C8orf76,non_coding_transcript_exon_variant,,ENST00000521310,;C8orf76,non_coding_transcript_exon_variant,,ENST00000517760,;C8orf76,intron_variant,,ENST00000519791,;C8orf76,non_coding_transcript_exon_variant,,ENST00000518996,;	uc003yqc.1	c.612_614delCTT	664-666/1342	5	5			c.612_614delCTT						8	DEL	c.(610-615)TTCTTT>TTT	48	48			ovary(2)	2	Broad	hypothetical protein LOC84933			124243743		0.433	ENSG00000189376	2389	g.chr8:124243741_124243743delAAG			binding																				0.44	1	1	0	1	0	0	0	0	0	--	--		0	-			C8orf76_uc003yqd.2_In_Frame_Del_p.172_173FF>F	13	GBM-06-0126-TP	p.204_205FF>F	AAG	TGAGTGTGGAAAGAAGGATTTGA	NM_032847	NP_116236	124243741	Q96K31	CH076_HUMAN	0	STAD - Stomach adenocarcinoma(47;0.00527)		4	643_645	-	-	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		In_Frame_Del	204_205						
C9	0	broad.mit.edu	GRCh37	5	39316092	39316092	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-16-0846-01	TCGA-16-0846-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263408.4:c.655G>C	p.Glu219Gln	p.E219Q	ENST00000263408	NM_001737.3	219	Gaa/Caa	0			1			G	E/Q	uc003jlv.3	protein_coding	YES	CCDS3929.1			655/1680										0	c.(655-657)GAA>CAA			hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF333,PROSITE_profiles:PS51412	complement component 9 precursor				ENSP00000263408		11-Jun									COSM3410269	11-Jun	.		ENST00000263408	Transcript	1		complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		ENSG00000113600	g.chr5:39316092C>G	1358			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=CO9_HUMAN&rb=138&re=509&var=E219Q	getma.org/pdb.php?prot=CO9_HUMAN&from=138&to=509&var=E219Q	getma.org/?cm=var&var=hg19,5,39316092,C,G&fts=all	E219Q	--	--	1																																			1	1		benign(0.077)	p.E219Q	NM_001737	NP_001728		deleterious(0.04)	1	CO9_HUMAN	C9	HGNC	P02748	CO9_HUMAN	Epithelial(62;0.158)		Q9UGI4_HUMAN		6	744	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	UPI0000001065	219			MACPF.		SNV	C9,missense_variant,p.Glu219Gln,ENST00000263408,NM_001737.3;C9,non_coding_transcript_exon_variant,,ENST00000509186,;	uc003jlv.3	c.655G>C	751/2713	4	4			c.655G>C						5	SNP	c.(655-657)GAA>CAA	31	31				0	Broad	complement component 9 precursor			39316092		0.303	ENSG00000113600	2395	g.chr5:39316092C>G	complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex								55.792667	KEEP	12	7	-1	35	25	12	7	-1	60.283307	35	25	0.246753	1	0	0	0	0	1	0	0	0	--	--		0	G				155	GBM-16-0846-TP	p.E219Q	C	TCAATTTGTTCTTCGTAATGT	NM_001737	NP_001728	39316092	P02748	CO9_HUMAN	0	Epithelial(62;0.158)		6	744	-	G	G	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Missense_Mutation	219			MACPF.			
C9	0	broad.mit.edu	GRCh37	5	39288825	39288825	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263408.4:c.1645G>T	p.Gly549Ter	p.G549*	ENST00000263408	NM_001737.3	549	Gga/Tga	0			1			A	G/*	uc003jlv.3	protein_coding	YES	CCDS3929.1			1645/1680										0	c.(1645-1647)GGA>TGA			hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF333	complement component 9 precursor				ENSP00000263408		11-Oct	8.24E-06					1.51E-05			rs747879234,COSM3410268	11-Oct	.		ENST00000263408	Transcript	1		complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		ENSG00000113600	g.chr5:39288825C>A	1358			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,5,39288825,C,A&fts=all	G549*	--	--	1																																			0,1	1			p.G549*	NM_001737	NP_001728			0,1	CO9_HUMAN	C9	HGNC	P02748	CO9_HUMAN	Epithelial(62;0.158)		Q9UGI4_HUMAN		10	1734	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	UPI0000001065	549					SNV	C9,stop_gained,p.Gly549Ter,ENST00000263408,NM_001737.3;	uc003jlv.3	c.1645G>T	1741/2713	5	1			c.1645G>T						5	SNP	c.(1645-1647)GGA>TGA	52	52				0	Broad	complement component 9 precursor			39288825		0.333	ENSG00000113600	2395	g.chr5:39288825C>A	complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex								-24.286965	KEEP	4	1	0.2	61	72	4	1	0.2	6.323266	61	72	0.02459	1	0	0	0	0	0	1	0	0	--	--		0	A				160	GBM-19-1790-TP	p.G549*	C	TTGTCCTCACCTTCAGAAATT	NM_001737	NP_001728	39288825	P02748	CO9_HUMAN	0	Epithelial(62;0.158)		10	1734	-	A	A	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Nonsense_Mutation	549						
PIERCE1	0	broad.mit.edu	GRCh37	9	138387358	138387358	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1834-01	TCGA-27-1834-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000429260.2:c.326C>T	p.Thr109Ile	p.T109I	ENST00000429260	NM_001048265.1	109	aCt/aTt	0			1			A	T/I	uc004cft.1	protein_coding	YES	CCDS43899.1			326/411										0	c.(325-327)ACT>ATT			hmmpanther:PTHR20899,hmmpanther:PTHR20899:SF2	hypothetical protein LOC138162 isoform 1				ENSP00000395281		3-Mar									COSM3413445	3-Mar	.		ENST00000429260	Transcript						ENSG00000160345	g.chr9:138387358G>A	28435			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=CI116_HUMAN&rb=1&re=134&var=T109I	NA	getma.org/?cm=var&var=hg19,9,138387358,G,A&fts=all	T109I	--	--	1																																		C9orf116_uc004cfs.1_3'UTR|C9orf116_uc004cfu.1_RNA	1	1		probably_damaging(0.967)	p.T109I	NM_001048265	NP_001041730		deleterious(0)	1	CI116_HUMAN	C9orf116	HGNC	Q5BN46	CI116_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)			3	390	-			UPI0000210EFC	109					SNV	C9orf116,missense_variant,p.Thr109Ile,ENST00000429260,NM_001048265.1,NM_144654.2;C9orf116,3_prime_UTR_variant,,ENST00000371789,;C9orf116,3_prime_UTR_variant,,ENST00000371791,;C9orf116,3_prime_UTR_variant,,ENST00000419770,;MRPS2,upstream_gene_variant,,ENST00000371785,;C9orf116,non_coding_transcript_exon_variant,,ENST00000371786,;	uc004cft.1	c.326C>T	347/678	1	1			c.326C>T						9	SNP	c.(325-327)ACT>ATT	58	58				0	Broad	hypothetical protein LOC138162 isoform 1			138387358		0.478	ENSG00000160345	2402	g.chr9:138387358G>A										379.337399	KEEP	63	57	-1	17	25	63	57	-1	387.213755	17	25	0.738562	1	0	0	0	0	1	0	0	0	--	--		0	A			C9orf116_uc004cfs.1_3'UTR|C9orf116_uc004cfu.1_RNA	193	GBM-27-1834-TP	p.T109I	G	ATCGGGGCCAGTCACGATGCT	NM_001048265	NP_001041730	138387358	Q5BN46	CI116_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)	3	390	-	A	A			Missense_Mutation	109						
C9orf131	138724	broad.mit.edu	GRCh37	9	35045456	35045456	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0169-01	TCGA-06-0169-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312292.5:c.2830A>G	p.Lys944Glu	p.K944E	ENST00000312292	NM_203299.2	944	Aag/Gag	0			1			G	K/E	uc003zvw.2	protein_coding	YES	CCDS6572.2			2830/3240										0	c.(2830-2832)AAG>GAG			Low_complexity_(Seg):seg,hmmpanther:PTHR21777	hypothetical protein LOC138724 isoform A				ENSP00000308279		2-Feb									COSM2150266	2-Feb	.		ENST00000312292	Transcript						ENSG00000174038	g.chr9:35045456A>G	31418			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=CI131_HUMAN&rb=902&re=993&var=K944E	NA	getma.org/?cm=var&var=hg19,9,35045456,A,G&fts=all	K944E	--	--	1																																		C9orf131_uc003zvu.2_Missense_Mutation_p.K896E|C9orf131_uc003zvv.2_Missense_Mutation_p.K871E|C9orf131_uc003zvx.2_Missense_Mutation_p.K909E	1	1		possibly_damaging(0.54)	p.K944E	NM_203299	NP_976044		tolerated(0.15)	1	CI131_HUMAN	C9orf131	HGNC	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)				2	2859	+	all_epithelial(49;0.22)		UPI00001605AC	944					SNV	C9orf131,missense_variant,p.Lys944Glu,ENST00000312292,NM_203299.2,NM_001287391.1,NM_001040410.2;C9orf131,missense_variant,p.Lys896Glu,ENST00000421362,NM_001040412.1;C9orf131,missense_variant,p.Lys871Glu,ENST00000354479,NM_001040411.1;C9orf131,downstream_gene_variant,,ENST00000378745,;C9orf131,downstream_gene_variant,,ENST00000534880,;FLJ00273,upstream_gene_variant,,ENST00000595331,;C9orf131,downstream_gene_variant,,ENST00000537671,;RN7SL338P,upstream_gene_variant,,ENST00000481467,;C9orf131,downstream_gene_variant,,ENST00000416537,;	uc003zvw.2	c.2830A>G	2877/3409	3	3			c.2830A>G						9	SNP	c.(2830-2832)AAG>GAG	15	15				0	Broad	hypothetical protein LOC138724 isoform A			35045456		0.532	ENSG00000174038	2409	g.chr9:35045456A>G										219.283662	KEEP	26	43	-1	66	57	26	43	-1	222.194587	66	57	0.362069	1	0	0	0	0	1	0	0	0	--	--		0	G			C9orf131_uc003zvu.2_Missense_Mutation_p.K896E|C9orf131_uc003zvv.2_Missense_Mutation_p.K871E|C9orf131_uc003zvx.2_Missense_Mutation_p.K909E	34	GBM-06-0169-TP	p.K944E	A	CTCAGCCAAAAAGAGAGAGCA	NM_203299	NP_976044	35045456	Q5VYM1	CI131_HUMAN	0	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	2859	+	G	G	all_epithelial(49;0.22)		Missense_Mutation	944						
C9orf131	138724	broad.mit.edu	GRCh37	9	35043985	35043985	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0185-01	TCGA-06-0185-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312292.5:c.1359G>C	p.Trp453Cys	p.W453C	ENST00000312292	NM_203299.2	453	tgG/tgC	0			1			C	W/C	uc003zvw.2	protein_coding	YES	CCDS6572.2			1359/3240										0	c.(1357-1359)TGG>TGC			hmmpanther:PTHR21777	hypothetical protein LOC138724 isoform A				ENSP00000308279		2-Feb									COSM2150554	2-Feb	.		ENST00000312292	Transcript						ENSG00000174038	g.chr9:35043985G>C	31418			MODERATE		0.93	low	getma.org/?cm=msa&ty=f&p=CI131_HUMAN&rb=235&re=900&var=W453C	NA	getma.org/?cm=var&var=hg19,9,35043985,G,C&fts=all	W453C	--	--	1																																		C9orf131_uc003zvu.2_Missense_Mutation_p.W405C|C9orf131_uc003zvv.2_Missense_Mutation_p.W380C|C9orf131_uc003zvx.2_Missense_Mutation_p.W418C	1	1		benign(0.006)	p.W453C	NM_203299	NP_976044		tolerated(0.08)	1	CI131_HUMAN	C9orf131	HGNC	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)				2	1388	+	all_epithelial(49;0.22)		UPI00001605AC	453					SNV	C9orf131,missense_variant,p.Trp453Cys,ENST00000312292,NM_203299.2,NM_001287391.1,NM_001040410.2;C9orf131,missense_variant,p.Trp405Cys,ENST00000421362,NM_001040412.1;C9orf131,missense_variant,p.Trp380Cys,ENST00000354479,NM_001040411.1;C9orf131,downstream_gene_variant,,ENST00000378745,;C9orf131,downstream_gene_variant,,ENST00000534880,;FLJ00273,upstream_gene_variant,,ENST00000595331,;C9orf131,downstream_gene_variant,,ENST00000537671,;C9orf131,downstream_gene_variant,,ENST00000416537,;	uc003zvw.2	c.1359G>C	1406/3409	3	3			c.1359G>C						9	SNP	c.(1357-1359)TGG>TGC	52	52				0	Broad	hypothetical protein LOC138724 isoform A			35043985		0.542	ENSG00000174038	2409	g.chr9:35043985G>C										171.551799	KEEP	36	29	-1	130	99	36	29	-1	190.529463	130	99	0.223048	1	0	0	0	0	1	0	0	0	--	--		0	C			C9orf131_uc003zvu.2_Missense_Mutation_p.W405C|C9orf131_uc003zvv.2_Missense_Mutation_p.W380C|C9orf131_uc003zvx.2_Missense_Mutation_p.W418C	40	GBM-06-0185-TP	p.W453C	G	AGACACCATGGAAGGGCATGC	NM_203299	NP_976044	35043985	Q5VYM1	CI131_HUMAN	0	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	1388	+	C	C	all_epithelial(49;0.22)		Missense_Mutation	453						
C9orf131	138724	broad.mit.edu	GRCh37	9	35044886	35044886	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-5856-01	TCGA-06-5856-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312292.5:c.2260T>C	p.Cys754Arg	p.C754R	ENST00000312292	NM_203299.2	754	Tgc/Cgc	0			1			C	C/R	uc003zvw.2	protein_coding	YES	CCDS6572.2			2260/3240										0	c.(2260-2262)TGC>CGC			hmmpanther:PTHR21777	hypothetical protein LOC138724 isoform A				ENSP00000308279		2-Feb									COSM3413632	2-Feb	.		ENST00000312292	Transcript						ENSG00000174038	g.chr9:35044886T>C	31418			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=CI131_HUMAN&rb=235&re=900&var=C754R	NA	getma.org/?cm=var&var=hg19,9,35044886,T,C&fts=all	C754R	--	--	1																																		C9orf131_uc003zvu.2_Missense_Mutation_p.C706R|C9orf131_uc003zvv.2_Missense_Mutation_p.C681R|C9orf131_uc003zvx.2_Missense_Mutation_p.C719R	1	1		benign(0.069)	p.C754R	NM_203299	NP_976044		deleterious(0.04)	1	CI131_HUMAN	C9orf131	HGNC	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)				2	2289	+	all_epithelial(49;0.22)		UPI00001605AC	754					SNV	C9orf131,missense_variant,p.Cys754Arg,ENST00000312292,NM_203299.2,NM_001287391.1,NM_001040410.2;C9orf131,missense_variant,p.Cys706Arg,ENST00000421362,NM_001040412.1;C9orf131,missense_variant,p.Cys681Arg,ENST00000354479,NM_001040411.1;C9orf131,downstream_gene_variant,,ENST00000378745,;C9orf131,downstream_gene_variant,,ENST00000534880,;FLJ00273,upstream_gene_variant,,ENST00000595331,;C9orf131,downstream_gene_variant,,ENST00000537671,;RN7SL338P,upstream_gene_variant,,ENST00000481467,;C9orf131,downstream_gene_variant,,ENST00000416537,;	uc003zvw.2	c.2260T>C	2307/3409	4	4			c.2260T>C						9	SNP	c.(2260-2262)TGC>CGC	33	33				0	Broad	hypothetical protein LOC138724 isoform A			35044886		0.587	ENSG00000174038	2409	g.chr9:35044886T>C										150.67183	KEEP	19	33	-1	35	51	19	33	-1	152.056565	35	51	0.387097	1	0	0	0	0	1	0	0	0	--	--		0	C			C9orf131_uc003zvu.2_Missense_Mutation_p.C706R|C9orf131_uc003zvv.2_Missense_Mutation_p.C681R|C9orf131_uc003zvx.2_Missense_Mutation_p.C719R	101	GBM-06-5856-TP	p.C754R	T	GGGAGTAACGTGCCCAGGGGT	NM_203299	NP_976044	35044886	Q5VYM1	CI131_HUMAN	0	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	2289	+	C	C	all_epithelial(49;0.22)		Missense_Mutation	754						
C9orf131	0	broad.mit.edu	GRCh37	9	35045372	35045372	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs3739871	byFrequency;by1000genomes	TCGA-14-1829-01	TCGA-14-1829-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312292.5:c.2746C>G	p.Pro916Ala	p.P916A	ENST00000312292	NM_203299.2	916	Cca/Gca	0			1			G	P/A	uc003zvw.2	protein_coding	YES	CCDS6572.2			2746/3240										0	c.(2746-2748)CCA>GCA			hmmpanther:PTHR21777	hypothetical protein LOC138724 isoform A				ENSP00000308279		2-Feb									COSM3413633	2-Feb	.		ENST00000312292	Transcript						ENSG00000174038	g.chr9:35045372C>G	31418			MODERATE		1.32	low	getma.org/?cm=msa&ty=f&p=CI131_HUMAN&rb=902&re=993&var=P916A	NA	getma.org/?cm=var&var=hg19,9,35045372,C,G&fts=all	P916A	--	--	1																																		C9orf131_uc003zvu.2_Missense_Mutation_p.P868A|C9orf131_uc003zvv.2_Missense_Mutation_p.P843A|C9orf131_uc003zvx.2_Missense_Mutation_p.P881A	1	1		benign(0.121)	p.P916A	NM_203299	NP_976044		deleterious(0.03)	1	CI131_HUMAN	C9orf131	HGNC	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)				2	2775	+	all_epithelial(49;0.22)		UPI00001605AC	916					SNV	C9orf131,missense_variant,p.Pro916Ala,ENST00000312292,NM_203299.2,NM_001287391.1,NM_001040410.2;C9orf131,missense_variant,p.Pro868Ala,ENST00000421362,NM_001040412.1;C9orf131,missense_variant,p.Pro843Ala,ENST00000354479,NM_001040411.1;C9orf131,downstream_gene_variant,,ENST00000378745,;C9orf131,downstream_gene_variant,,ENST00000534880,;FLJ00273,upstream_gene_variant,,ENST00000595331,;C9orf131,downstream_gene_variant,,ENST00000537671,;RN7SL338P,upstream_gene_variant,,ENST00000481467,;C9orf131,downstream_gene_variant,,ENST00000416537,;	uc003zvw.2	c.2746C>G	2793/3409	3	3			c.2746C>G						9	SNP	c.(2746-2748)CCA>GCA	3	3				0	Broad	hypothetical protein LOC138724 isoform A			35045372		0.537	ENSG00000174038	2409	g.chr9:35045372C>G										388.350394	KEEP	53	72	-1	117	120	53	72	-1	395.966185	117	120	0.341108	1	0	0	0	0	1	0	0	0	--	--		0	G			C9orf131_uc003zvu.2_Missense_Mutation_p.P868A|C9orf131_uc003zvv.2_Missense_Mutation_p.P843A|C9orf131_uc003zvx.2_Missense_Mutation_p.P881A	149	GBM-14-1829-TP	p.P916A	C	CTATCTATCTCCAGGCCCAGG	NM_203299	NP_976044	35045372	Q5VYM1	CI131_HUMAN	0	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	2775	+	G	G	all_epithelial(49;0.22)		Missense_Mutation	916						
C9orf131	0	broad.mit.edu	GRCh37	9	35045866	35045866	+	stop_lost	Nonstop_Mutation	SNP	G	G	C			TCGA-27-1832-01	TCGA-27-1832-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312292.5:c.3240G>C	p.Ter1080TyrextTer5	p.*1080Yext*5	ENST00000312292	NM_203299.2	1080	taG/taC	0			1			C	*/Y	uc003zvw.2	protein_coding	YES	CCDS6572.2			3240/3240										0	c.(3238-3240)TAG>TAC				hypothetical protein LOC138724 isoform A				ENSP00000308279		2-Feb									COSM3413634	2-Feb	.		ENST00000312292	Transcript						ENSG00000174038	g.chr9:35045866G>C	31418			HIGH								--	--	1																																		C9orf131_uc003zvu.2_Nonstop_Mutation_p.*1032Y|C9orf131_uc003zvv.2_Nonstop_Mutation_p.*1007Y|C9orf131_uc003zvx.2_Nonstop_Mutation_p.*1045Y	1	1			p.*1080Y	NM_203299	NP_976044			1	CI131_HUMAN	C9orf131	HGNC	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)				2	3269	+	all_epithelial(49;0.22)		UPI00001605AC	1080					SNV	C9orf131,stop_lost,p.Ter1080TyrextTer5,ENST00000312292,NM_203299.2,NM_001287391.1,NM_001040410.2;C9orf131,stop_lost,p.Ter1032TyrextTer5,ENST00000421362,NM_001040412.1;C9orf131,stop_lost,p.Ter1007TyrextTer5,ENST00000354479,NM_001040411.1;C9orf131,downstream_gene_variant,,ENST00000378745,;C9orf131,downstream_gene_variant,,ENST00000534880,;FLJ00273,upstream_gene_variant,,ENST00000595331,;C9orf131,downstream_gene_variant,,ENST00000537671,;RN7SL338P,upstream_gene_variant,,ENST00000481467,;C9orf131,downstream_gene_variant,,ENST00000416537,;	uc003zvw.2	c.3240G>C	3287/3409	5	3			c.3240G>C						9	SNP	c.(3238-3240)TAG>TAC	14	14				0	Broad	hypothetical protein LOC138724 isoform A			35045866		0.483	ENSG00000174038	2409	g.chr9:35045866G>C										173.458835	KEEP	33	31	-1	85	101	33	31	-1	187.299383	85	101	0.244635	1	0	0	0	0	0	0	0	0	--	--		0	C			C9orf131_uc003zvu.2_Nonstop_Mutation_p.*1032Y|C9orf131_uc003zvv.2_Nonstop_Mutation_p.*1007Y|C9orf131_uc003zvx.2_Nonstop_Mutation_p.*1045Y	191	GBM-27-1832-TP	p.*1080Y	G	CTAGTCAGTAGAGAAAAGGCT	NM_203299	NP_976044	35045866	Q5VYM1	CI131_HUMAN	0	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	3269	+	C	C	all_epithelial(49;0.22)		Nonstop_Mutation	1080						
C9orf139	0	broad.mit.edu	GRCh37	9	139929144	139929144	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01	TCGA-32-2491-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314330.2:c.211C>T	p.Arg71Cys	p.R71C	ENST00000314330	NM_207511.1	71	Cgc/Tgc	0		T:0.0008	1	T:0		T	R/C	uc004ckp.1	protein_coding	YES	CCDS7023.1			211/573										0	c.(211-213)CGC>TGC				hypothetical protein LOC401563		T:0		ENSP00000318119	T:0	3-Mar	5.79E-05	0.000108	0.000175			3.17E-05		0.000122	rs535490102,COSM3413478	3-Mar	.		ENST00000314330	Transcript		T:0.0002				ENSG00000180539	g.chr9:139929144C>T	31426			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CI139_HUMAN&rb=1&re=189&var=R71C	NA	getma.org/?cm=var&var=hg19,9,139929144,C,T&fts=all	R71C	--	--	1																																		FUT7_uc004ckq.2_5'Flank	0,1	1		benign(0.005)	p.R71C	NM_207511	NP_997394	T:0	tolerated_low_confidence(0.18)	0,1	CI139_HUMAN	C9orf139	HGNC	Q6ZV77	CI139_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)			3	1725	+	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	UPI00001C0A59	71					SNV	C9orf139,missense_variant,p.Arg71Cys,ENST00000314330,NM_207511.1;FUT7,upstream_gene_variant,,ENST00000314412,NM_004479.3;NPDC1,downstream_gene_variant,,ENST00000371600,;NPDC1,downstream_gene_variant,,ENST00000371601,NM_015392.3;RP11-229P13.20,upstream_gene_variant,,ENST00000457302,;NPDC1,downstream_gene_variant,,ENST00000496498,;NPDC1,downstream_gene_variant,,ENST00000472668,;	uc004ckp.1	c.211C>T	1725/3815	2	2			c.211C>T						9	SNP	c.(211-213)CGC>TGC	25	25				0	Broad	hypothetical protein LOC401563			139929144		0.657	ENSG00000180539	2411	g.chr9:139929144C>T										40.525586	KEEP	32	22	-1	71	61	32	22	-1	46.392724	71	61	0.233333	1	0	0	0	0	1	0	0	0	--	--		0	T			FUT7_uc004ckq.2_5'Flank	235	GBM-32-2491-TP	p.R71C	C	TGTCCTGCCACGCCTGCGGGT	NM_207511	NP_997394	139929144	Q6ZV77	CI139_HUMAN	0	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)	3	1725	+	T	T	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	Missense_Mutation	71						
C9orf152	401546	broad.mit.edu	GRCh37	9	112963591	112963591	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6389-01	TCGA-06-6389-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400613.4:c.357G>A	p.Thr119=	p.T119=	ENST00000400613	NM_001012993.2	119	acG/acA	0	G:0.0002		1			T	T	uc011lwk.1	protein_coding	YES	CCDS35102.2			357/720										0	c.(355-357)ACG>ACA				hypothetical protein LOC401546			G:0	ENSP00000383456		2-Feb	3.29E-05					6.03E-05			rs376699609,COSM1103817,COSM1597906	2-Feb	.		ENST00000400613	Transcript						ENSG00000188959	g.chr9:112963591C>T	31455			LOW								--	--	1																																			0,1,1	1			p.T119T	NM_001012993	NP_001013011			0,1,1	CI152_HUMAN	C9orf152	HGNC	Q5JTZ5	CI152_HUMAN			A8K2L3_HUMAN		2	911	-			UPI00016278ED	119					SNV	C9orf152,synonymous_variant,p.=,ENST00000400613,NM_001012993.2;C9orf152,intron_variant,,ENST00000473442,;	uc011lwk.1	c.357G>A	967/2717	2	2			c.357G>A						9	SNP	c.(355-357)ACG>ACA	33	33				0	Broad	hypothetical protein LOC401546			112963591		0.587	ENSG00000188959	2415	g.chr9:112963591C>T										9.182157	KEEP	5	6	-1	49	44	5	6	-1	24.713302	49	44	0.107843	1	0	0	0	0	0	0	1	0	--	--		0	T				105	GBM-06-6389-TP	p.T119T	C	TCTCCAGGTGCGTGTGCCATG	NM_001012993	NP_001013011	112963591	Q5JTZ5	CI152_HUMAN	0			2	911	-	T	T			Silent	119						
C9orf156	0	broad.mit.edu	GRCh37	9	100672419	100672419	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0744-01	TCGA-06-0744-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375119.3:c.889G>T	p.Val297Phe	p.V297F	ENST00000375119	NM_016481.3	297	Gtc/Ttc	0			1			A	V/F	uc004axv.1	protein_coding	YES	CCDS6730.1			889/1326										0	c.(889-891)GTC>TTC			hmmpanther:PTHR12818	Nef associated protein 1				ENSP00000364260		5-Apr									COSM2151692	5-Apr	.		ENST00000375119	Transcript			interspecies interaction between organisms		hydrolase activity	ENSG00000136932	g.chr9:100672419C>A	30967			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=NAP1_HUMAN&rb=166&re=365&var=V297F	NA	getma.org/?cm=var&var=hg19,9,100672419,C,A&fts=all	V297F	--	--	1																																		C9orf156_uc004axw.1_Missense_Mutation_p.V194F|C9orf156_uc004axx.1_Missense_Mutation_p.V151F|C9orf156_uc010msq.1_Missense_Mutation_p.V194F	1	1		benign(0.006)	p.V297F	NM_016481	NP_057565		tolerated(0.46)	1	NAP1_HUMAN	C9orf156	HGNC	Q9BU70	NAP1_HUMAN			Q5T114_HUMAN		4	966	-		Acute lymphoblastic leukemia(62;0.158)	UPI000013D057	297					SNV	C9orf156,missense_variant,p.Val151Phe,ENST00000375118,;C9orf156,missense_variant,p.Val297Phe,ENST00000375119,NM_016481.3;C9orf156,downstream_gene_variant,,ENST00000375117,;C9orf156,downstream_gene_variant,,ENST00000455506,;C9orf156,non_coding_transcript_exon_variant,,ENST00000478126,;C9orf156,downstream_gene_variant,,ENST00000471580,;	uc004axv.1	c.889G>T	966/1647	1	1			c.889G>T						9	SNP	c.(889-891)GTC>TTC	63	63				0	Broad	Nef associated protein 1			100672419		0.562	ENSG00000136932	2417	g.chr9:100672419C>A	interspecies interaction between organisms		hydrolase activity							116.417823	KEEP	22	16	0.421052632	26	25	22	16	0.421052632	116.799481	26	25	0.426829	1	0	0	0	0	1	0	0	0	--	--		0	A			C9orf156_uc004axw.1_Missense_Mutation_p.V194F|C9orf156_uc004axx.1_Missense_Mutation_p.V151F|C9orf156_uc010msq.1_Missense_Mutation_p.V194F	66	GBM-06-0744-TP	p.V297F	C	CCTTGCAAGACTGCTGCTCCT	NM_016481	NP_057565	100672419	Q9BU70	NAP1_HUMAN	0			4	966	-	A	A		Acute lymphoblastic leukemia(62;0.158)	Missense_Mutation	297						
C9orf163	0	broad.mit.edu	GRCh37	9	139379109	139379109	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-5136-01	TCGA-26-5136-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354376.1:c.209G>A	p.Gly70Glu	p.G70E	ENST00000354376	NM_152571.2	70	gGg/gAg	0			1			A	G/E	uc004chy.2	protein_coding	YES	CCDS7001.1			209/612										0	c.(208-210)GGG>GAG				hypothetical protein LOC158055				ENSP00000346345		1-Jan	8.26E-06							6.33E-05	rs769178010,COSM2157113	1-Jan	.		ENST00000354376	Transcript					protein binding	ENSG00000196366	g.chr9:139379109G>A	26718			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CI163_HUMAN&rb=1&re=200&var=G70E	NA	getma.org/?cm=var&var=hg19,9,139379109,G,A&fts=all	G70E	--	--	1																																		SEC16A_uc004chx.2_5'Flank|SEC16A_uc010nbo.1_5'Flank	0,1	1		probably_damaging(0.969)	p.G70E	NM_152571	NP_689784		tolerated_low_confidence(0.08)	0,1	CI163_HUMAN	C9orf163	HGNC	Q8N9P6	CI163_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06)			1	1163	+		Myeloproliferative disorder(178;0.0511)	UPI000006EC86	70					SNV	C9orf163,missense_variant,p.Gly70Glu,ENST00000354376,NM_152571.2;	uc004chy.2	c.209G>A	1163/2572	1	1			c.209G>A						9	SNP	c.(208-210)GGG>GAG	54	54				0	Broad	hypothetical protein LOC158055			139379109		0.687	ENSG00000196366	2419	g.chr9:139379109G>A			protein binding							45.624727	KEEP	10	7	-1	14	18	10	7	-1	45.967946	14	18	0.404762	1	0	0	0	0	1	0	0	0	--	--		0	A			SEC16A_uc004chx.2_5'Flank|SEC16A_uc010nbo.1_5'Flank	185	GBM-26-5136-TP	p.G70E	G	GTGAGGGAGGGGGTGATATCC	NM_152571	NP_689784	139379109	Q8N9P6	CI163_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06)	1	1163	+	A	A		Myeloproliferative disorder(178;0.0511)	Missense_Mutation	70						
C9orf171	0	broad.mit.edu	GRCh37	9	135374872	135374872	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0158-01	TCGA-06-0158-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343036.2:c.517G>C	p.Glu173Gln	p.E173Q	ENST00000343036	NM_207417.1	173	Gag/Cag	0			1			C	E/Q	uc004cbn.2	protein_coding	YES	CCDS6949.1			517/963									ovary(4)|large_intestine(1)	5	c.(517-519)GAG>CAG			Pfam_domain:PF14825	hypothetical protein LOC389799				ENSP00000343290		7-Apr									COSM2150104	7-Apr	.		ENST00000343036	Transcript						ENSG00000188523	g.chr9:135374872G>C	33776			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=CI171_HUMAN&rb=1&re=200&var=E173Q	NA	getma.org/?cm=var&var=hg19,9,135374872,G,C&fts=all	E173Q	--	--	1																																		C9orf171_uc004cbo.2_Missense_Mutation_p.E137Q	1	1		probably_damaging(0.999)	p.E173Q	NM_207417	NP_997300		deleterious(0.01)	1	CI171_HUMAN	C9orf171	HGNC	Q6ZQR2	CI171_HUMAN					4	565	+			UPI00001C109C	173					SNV	C9orf171,missense_variant,p.Glu173Gln,ENST00000343036,NM_207417.1;C9orf171,missense_variant,p.Glu137Gln,ENST00000393216,NM_001282957.1;C9orf171,missense_variant,p.Glu137Gln,ENST00000393215,;	uc004cbn.2	c.517G>C	565/1818	3	3			c.517G>C						9	SNP	c.(517-519)GAG>CAG	2	2			ovary(4)|large_intestine(1)	5	Broad	hypothetical protein LOC389799			135374872		0.592	ENSG00000188523	2421	g.chr9:135374872G>C										247.852698	KEEP	39	47	-1	69	59	39	47	-1	249.956648	69	59	0.387435	1	0	0	0	0	1	0	0	0	--	--		0	C			C9orf171_uc004cbo.2_Missense_Mutation_p.E137Q	29	GBM-06-0158-TP	p.E173Q	G	GACTGCCCGGGAGAACTTGCT	NM_207417	NP_997300	135374872	Q6ZQR2	CI171_HUMAN	0			4	565	+	C	C			Missense_Mutation	173						
C9orf171	0	broad.mit.edu	GRCh37	9	135374759	135374759	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0876-01	TCGA-06-0876-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343036.2:c.404C>T	p.Ala135Val	p.A135V	ENST00000343036	NM_207417.1	135	gCc/gTc	0			1			T	A/V	uc004cbn.2	protein_coding	YES	CCDS6949.1			404/963									ovary(4)|large_intestine(1)	5	c.(403-405)GCC>GTC			Pfam_domain:PF14825	hypothetical protein LOC389799				ENSP00000343290		7-Apr									COSM2152053	7-Apr	.		ENST00000343036	Transcript						ENSG00000188523	g.chr9:135374759C>T	33776			MODERATE		1.485	low	getma.org/?cm=msa&ty=f&p=CI171_HUMAN&rb=1&re=200&var=A135V	NA	getma.org/?cm=var&var=hg19,9,135374759,C,T&fts=all	A135V	--	--	1																																		C9orf171_uc004cbo.2_Missense_Mutation_p.A99V	1	1		probably_damaging(1)	p.A135V	NM_207417	NP_997300		deleterious(0)	1	CI171_HUMAN	C9orf171	HGNC	Q6ZQR2	CI171_HUMAN					4	452	+			UPI00001C109C	135					SNV	C9orf171,missense_variant,p.Ala135Val,ENST00000343036,NM_207417.1;C9orf171,missense_variant,p.Ala99Val,ENST00000393216,NM_001282957.1;C9orf171,missense_variant,p.Ala99Val,ENST00000393215,;	uc004cbn.2	c.404C>T	452/1818	2	2			c.404C>T						9	SNP	c.(403-405)GCC>GTC	32	32			ovary(4)|large_intestine(1)	5	Broad	hypothetical protein LOC389799			135374759		0.647	ENSG00000188523	2421	g.chr9:135374759C>T										107.326906	KEEP	20	24	-1	37	29	20	24	-1	108.2392	37	29	0.395833	1	0	0	0	0	1	0	0	0	--	--		0	T			C9orf171_uc004cbo.2_Missense_Mutation_p.A99V	72	GBM-06-0876-TP	p.A135V	C	CTGCCCTCAGCCATCGGACGC	NM_207417	NP_997300	135374759	Q6ZQR2	CI171_HUMAN	0			4	452	+	T	T			Missense_Mutation	135						
C9orf41	0	broad.mit.edu	GRCh37	9	77631261	77631261	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-19-2631-01	TCGA-19-2631-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376834.3:c.513A>C	p.Glu171Asp	p.E171D	ENST00000376834	NM_152420.1	171	gaA/gaC	0			1			G	E/D	uc004ajq.2	protein_coding	YES	CCDS6649.1			513/1230									ovary(1)|skin(1)	2	c.(511-513)GAA>GAC			hmmpanther:PTHR12303:SF6,hmmpanther:PTHR12303,Gene3D:3.40.50.150,Pfam_domain:PF07942,Superfamily_domains:SSF53335	hypothetical protein LOC138199				ENSP00000366030		8-Mar									COSM3413730	8-Mar	.		ENST00000376834	Transcript						ENSG00000156017	g.chr9:77631261T>G	23435			MODERATE		1.115	low	getma.org/?cm=msa&ty=f&p=CI041_HUMAN&rb=144&re=409&var=E171D	NA	getma.org/?cm=var&var=hg19,9,77631261,T,G&fts=all	E171D	--	--	1																																		C9orf41_uc011lsi.1_RNA	1	1		benign(0.039)	p.E171D	NM_152420	NP_689633		tolerated(0.38)	1	CI041_HUMAN	C9orf41	HGNC	Q8N4J0	CI041_HUMAN			B4DSD4_HUMAN		3	666	-			UPI000006D991	171					SNV	C9orf41,missense_variant,p.Glu171Asp,ENST00000376834,NM_152420.1;C9orf41,missense_variant,p.Glu171Asp,ENST00000376837,;C9orf41,missense_variant,p.Glu110Asp,ENST00000451153,;C9orf41,downstream_gene_variant,,ENST00000376830,;RP11-197P3.5,upstream_gene_variant,,ENST00000455336,;	uc004ajq.2	c.513A>C	666/4130	4	4			c.513A>C						9	SNP	c.(511-513)GAA>GAC	21	21			ovary(1)|skin(1)	2	Broad	hypothetical protein LOC138199			77631261		0.353	ENSG00000156017	2433	g.chr9:77631261T>G										-71.920022	KEEP	2	9	-1	186	226	2	9	-1	19.182038	186	226	0.022346	1	0	0	0	0	1	0	0	0	--	--		0	G			C9orf41_uc011lsi.1_RNA	167	GBM-19-2631-TP	p.E171D	T	CTTTCCCAGTTTCACTCCAGT	NM_152420	NP_689633	77631261	Q8N4J0	CI041_HUMAN	0			3	666	-	G	G			Missense_Mutation	171						
C9orf64	0	broad.mit.edu	GRCh37	9	86559803	86559803	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-32-1979-01	TCGA-32-1979-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376344.3:c.699T>A	p.Ser233Arg	p.S233R	ENST00000376344	NM_032307.3	233	agT/agA	0			1			T	S/R	uc004anb.2	protein_coding	YES	CCDS6666.2			699/1026										0	c.(697-699)AGT>AGA			Pfam_domain:PF10343,hmmpanther:PTHR21314,hmmpanther:PTHR21314:SF0	hypothetical protein LOC84267				ENSP00000365522		4-Mar									COSM3413787	4-Mar	.		ENST00000376344	Transcript						ENSG00000165118	g.chr9:86559803A>T	28144			MODERATE		1.22	low	getma.org/?cm=msa&ty=f&p=CI064_HUMAN&rb=53&re=341&var=S233R	NA	getma.org/?cm=var&var=hg19,9,86559803,A,T&fts=all	S233R	--	--	1																																		C9orf64_uc004anc.2_Missense_Mutation_p.S92R	1	1		benign(0.035)	p.S233R	NM_032307	NP_115683		tolerated(0.27)	1	CI064_HUMAN	C9orf64	HGNC	Q5T6V5	CI064_HUMAN			Q5T6V7_HUMAN		3	947	-			UPI000013E45E	233					SNV	C9orf64,missense_variant,p.Ser233Arg,ENST00000376344,NM_032307.3;C9orf64,missense_variant,p.Ser92Arg,ENST00000314700,;	uc004anb.2	c.699T>A	916/2443	2	2			c.699T>A						9	SNP	c.(697-699)AGT>AGA	25	25				0	Broad	hypothetical protein LOC84267			86559803		0.428	ENSG00000165118	2440	g.chr9:86559803A>T										84.113975	KEEP	10	25	-1	31	47	10	25	-1	87.769885	31	47	0.305556	1	0	0	0	0	1	0	0	0	--	--		0	T			C9orf64_uc004anc.2_Missense_Mutation_p.S92R	230	GBM-32-1979-TP	p.S233R	A	ACATGGTGATACTGGAGATGT	NM_032307	NP_115683	86559803	Q5T6V5	CI064_HUMAN	0			3	947	-	T	T			Missense_Mutation	233						
C9orf64	0	broad.mit.edu	GRCh37	9	86554575	86554575	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1991-01	TCGA-32-1991-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376344.3:c.877C>T	p.Leu293Phe	p.L293F	ENST00000376344	NM_032307.3	293	Ctt/Ttt	0	A:0		1			A	L/F	uc004anb.2	protein_coding	YES	CCDS6666.2			877/1026										0	c.(877-879)CTT>TTT			Pfam_domain:PF10343,hmmpanther:PTHR21314,hmmpanther:PTHR21314:SF0	hypothetical protein LOC84267			A:0.0001	ENSP00000365522		4-Apr	4.12E-05					7.50E-05			rs375078394,COSM3413786	4-Apr	.		ENST00000376344	Transcript						ENSG00000165118	g.chr9:86554575G>A	28144			MODERATE		1.54	low	getma.org/?cm=msa&ty=f&p=CI064_HUMAN&rb=53&re=341&var=L293F	NA	getma.org/?cm=var&var=hg19,9,86554575,G,A&fts=all	L293F	--	--	1																																		C9orf64_uc004anc.2_Missense_Mutation_p.L152F	0,1	1		probably_damaging(0.938)	p.L293F	NM_032307	NP_115683		tolerated(0.07)	0,1	CI064_HUMAN	C9orf64	HGNC	Q5T6V5	CI064_HUMAN			Q5T6V7_HUMAN		4	1125	-			UPI000013E45E	293					SNV	C9orf64,missense_variant,p.Leu293Phe,ENST00000376344,NM_032307.3;C9orf64,missense_variant,p.Leu152Phe,ENST00000314700,;	uc004anb.2	c.877C>T	1094/2443	1	1			c.877C>T						9	SNP	c.(877-879)CTT>TTT	49	49				0	Broad	hypothetical protein LOC84267			86554575		0.458	ENSG00000165118	2440	g.chr9:86554575G>A										363.822005	KEEP	69	59	-1	84	73	69	59	-1	364.420519	84	73	0.447154	1	0	0	0	0	1	0	0	0	--	--		0	A			C9orf64_uc004anc.2_Missense_Mutation_p.L152F	234	GBM-32-1991-TP	p.L293F	G	AGCTCCAGAAGACAATCCCGG	NM_032307	NP_115683	86554575	Q5T6V5	CI064_HUMAN	0			4	1125	-	A	A			Missense_Mutation	293						
C9orf66	157983	broad.mit.edu	GRCh37	9	214614	214614	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-0168-01	TCGA-06-0168-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382387.2:c.783C>A	p.Gly261=	p.G261=	ENST00000382387	NM_152569.2	261	ggC/ggA	0			1			T	G	uc003zge.3	protein_coding	YES	CCDS6439.1			783/888									central_nervous_system(1)	1	c.(781-783)GGC>GGA				hypothetical protein LOC157983				ENSP00000371824		1-Jan									COSM2150214	1-Jan	.		ENST00000382387	Transcript						ENSG00000183784	g.chr9:214614G>T	26436			LOW								--	--	1																																		DOCK8_uc011lls.1_5'Flank|DOCK8_uc003zgf.2_5'Flank	1	1			p.G261G	NM_152569	NP_689782			1	CI066_HUMAN	C9orf66	HGNC	Q5T8R8	CI066_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)			1	1280	-	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	UPI00001AFE3A	261			Arg-rich.		SNV	C9orf66,synonymous_variant,p.=,ENST00000382387,NM_152569.2;DOCK8,upstream_gene_variant,,ENST00000432829,NM_203447.3;DOCK8,upstream_gene_variant,,ENST00000453981,;DOCK8,upstream_gene_variant,,ENST00000479404,;DOCK8,upstream_gene_variant,,ENST00000524396,;DOCK8,upstream_gene_variant,,ENST00000454469,;DOCK8,upstream_gene_variant,,ENST00000469197,;	uc003zge.3	c.783C>A	1280/2786	2	2			c.783C>A						9	SNP	c.(781-783)GGC>GGA	26	26			central_nervous_system(1)	1	Broad	hypothetical protein LOC157983			214614		0.711	ENSG00000183784	2441	g.chr9:214614G>T										29.17293	KEEP	6	9	0.4	19	17	6	9	0.4	31.559018	19	17	0.26087	1	0	0	0	0	0	0	1	0	--	--		0	T			DOCK8_uc011lls.1_5'Flank|DOCK8_uc003zgf.2_5'Flank	33	GBM-06-0168-TP	p.G261G	G	GGAGCTTCCGGCCTGCGCGCA	NM_152569	NP_689782	214614	Q5T8R8	CI066_HUMAN	0	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	1280	-	T	T	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Silent	261			Arg-rich.			
C9orf66	157983	broad.mit.edu	GRCh37	9	214916	214916	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01	TCGA-06-0173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382387.2:c.481C>T	p.Arg161Cys	p.R161C	ENST00000382387	NM_152569.2	161	Cgc/Tgc	0			1			A	R/C	uc003zge.3	protein_coding	YES	CCDS6439.1			481/888								p.R161C(1)	central_nervous_system(1)	1	c.(481-483)CGC>TGC				hypothetical protein LOC157983				ENSP00000371824		1-Jan									COSM43016	1-Jan	.		ENST00000382387	Transcript						ENSG00000183784	g.chr9:214916G>A	26436			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CI066_HUMAN&rb=70&re=269&var=R161C	NA	getma.org/?cm=var&var=hg19,9,214916,G,A&fts=all	R161C	--	--	1																																		DOCK8_uc011lls.1_5'UTR|DOCK8_uc003zgf.2_5'UTR	1	1		benign(0)	p.R161C	NM_152569	NP_689782		tolerated_low_confidence(0.11)	1	CI066_HUMAN	C9orf66	HGNC	Q5T8R8	CI066_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)			1	978	-	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	UPI00001AFE3A	161					SNV	C9orf66,missense_variant,p.Arg161Cys,ENST00000382387,NM_152569.2;DOCK8,5_prime_UTR_variant,,ENST00000432829,NM_203447.3;DOCK8,5_prime_UTR_variant,,ENST00000453981,;DOCK8,upstream_gene_variant,,ENST00000479404,;DOCK8,5_prime_UTR_variant,,ENST00000524396,;DOCK8,5_prime_UTR_variant,,ENST00000469197,;DOCK8,non_coding_transcript_exon_variant,,ENST00000454469,;	uc003zge.3	c.481C>T	978/2786	1	1			c.481C>T						9	SNP	c.(481-483)CGC>TGC	58	58		p.R161C(1)	central_nervous_system(1)	1	Broad	hypothetical protein LOC157983			214916		0.687	ENSG00000183784	2441	g.chr9:214916G>A										39.860608	KEEP	7	10	-1	4	5	7	10	-1	40.394367	4	5	0.666667	1	0	0	0	0	1	0	0	0	--	--		0	A			DOCK8_uc011lls.1_5'UTR|DOCK8_uc003zgf.2_5'UTR	36	GBM-06-0173-TP	p.R161C	G	ACTCTGCGGCGCGCCAGGCCC	NM_152569	NP_689782	214916	Q5T8R8	CI066_HUMAN	0	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	978	-	A	A	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Missense_Mutation	161						
C9orf84	0	broad.mit.edu	GRCh37	9	114462255	114462255	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0743-01	TCGA-06-0743-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374287.3:c.2970C>T	p.Asn990=	p.N990=	ENST00000374287		990	aaC/aaT	0			1			A	N	uc004bfr.2	protein_coding		CCDS6781.3			2970/4335									ovary(2)	2	c.(2968-2970)AAC>AAT				hypothetical protein LOC158401 isoform 1				ENSP00000322108		22/26									COSM3413258,COSM3413257	22/26	.		ENST00000318737	Transcript						ENSG00000165181	g.chr9:114462255G>A	26535			LOW								--	--	1																																		C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Silent_p.N951N|C9orf84_uc010mug.2_Silent_p.N901N	1,1				p.N990N	NM_173521	NP_775792			1,1	CI084_HUMAN	C9orf84	HGNC	Q5VXU9	CI084_HUMAN					22	3105	-			UPI0000458916	990					SNV	C9orf84,synonymous_variant,p.=,ENST00000394779,NM_001080551.1;C9orf84,synonymous_variant,p.=,ENST00000394777,;C9orf84,synonymous_variant,p.=,ENST00000374287,;C9orf84,synonymous_variant,p.=,ENST00000318737,NM_173521.3;	uc004bfr.2	c.2970C>T	3099/4661	2	2			c.2970C>T						9	SNP	c.(2968-2970)AAC>AAT	28	28			ovary(2)	2	Broad	hypothetical protein LOC158401 isoform 1			114462255		0.313	ENSG00000165181	2451	g.chr9:114462255G>A										128.250985	KEEP	16	31	-1	29	52	16	31	-1	129.354547	29	52	0.390476	1	0	0	0	0	0	0	1	0	--	--		0	A			C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Silent_p.N951N|C9orf84_uc010mug.2_Silent_p.N901N	65	GBM-06-0743-TP	p.N990N	G	GTTCTTCAGAGTTTAGCCCAA	NM_173521	NP_775792	114462255	Q5VXU9	CI084_HUMAN	0			22	3105	-	A	A			Silent	990						
C9orf84	0	broad.mit.edu	GRCh37	9	114466161	114466161	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-4925-01	TCGA-76-4925-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318737.4:c.2775G>T	p.Gln925His	p.Q925H	ENST00000318737	NM_173521.3	925	caG/caT	0			1			A	Q/H	uc004bfr.2	protein_coding		CCDS6781.3			2775/4335									ovary(2)	2	c.(2773-2775)CAG>CAT				hypothetical protein LOC158401 isoform 1				ENSP00000322108		20/26									COSM3413260,COSM3413259	20/26	.		ENST00000318737	Transcript						ENSG00000165181	g.chr9:114466161C>A	26535			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=CI084_HUMAN&rb=85&re=968&var=Q925H	NA	getma.org/?cm=var&var=hg19,9,114466161,C,A&fts=all	Q925H	--	--	1																																		C9orf84_uc011lwt.1_Intron|C9orf84_uc004bfq.2_Missense_Mutation_p.Q886H|C9orf84_uc010mug.2_Missense_Mutation_p.Q836H	1,1			probably_damaging(0.999)	p.Q925H	NM_173521	NP_775792		deleterious(0)	1,1	CI084_HUMAN	C9orf84	HGNC	Q5VXU9	CI084_HUMAN					20	2910	-			UPI0000458916	925					SNV	C9orf84,missense_variant,p.Gln886His,ENST00000394779,NM_001080551.1;C9orf84,missense_variant,p.Gln851His,ENST00000394777,;C9orf84,missense_variant,p.Gln925His,ENST00000374287,;C9orf84,missense_variant,p.Gln925His,ENST00000318737,NM_173521.3;	uc004bfr.2	c.2775G>T	2904/4661	2	2			c.2775G>T						9	SNP	c.(2773-2775)CAG>CAT	32	32			ovary(2)	2	Broad	hypothetical protein LOC158401 isoform 1			114466161		0.318	ENSG00000165181	2451	g.chr9:114466161C>A										-7.83279	KEEP	2	1	0.333333333	32	37	2	1	0.333333333	6.454691	32	37	0.046154	1	0	0	0	0	1	0	0	0	--	--		0	A			C9orf84_uc011lwt.1_Intron|C9orf84_uc004bfq.2_Missense_Mutation_p.Q886H|C9orf84_uc010mug.2_Missense_Mutation_p.Q836H	265	GBM-76-4925-TP	p.Q925H	C	CTAGTTTTACCTGCAAAATTA	NM_173521	NP_775792	114466161	Q5VXU9	CI084_HUMAN	0			20	2910	-	A	A			Missense_Mutation	925						
C9orf84			GRCh37	9	114475419	114475419	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000374287.3:c.2257G>C	p.Glu753Gln	p.E753Q	ENST00000374287		753	Gaa/Caa	0																																																																																																																																																																																																																																												
C9orf91	0	broad.mit.edu	GRCh37	9	117396107	117396107	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0214-01	TCGA-06-0214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288502.4:c.534G>A	p.Arg178=	p.R178=	ENST00000288502		178	cgG/cgA	0			1			A	R	uc004bjd.3	protein_coding	YES	CCDS6808.1			534/1029									pancreas(1)	1	c.(532-534)CGG>CGA			Low_complexity_(Seg):seg,hmmpanther:PTHR31193,hmmpanther:PTHR31193:SF1,Pfam_domain:PF14800	hypothetical protein LOC203197				ENSP00000288502		9-Jun									COSM3413294	9-Jun	.		ENST00000288502	Transcript				integral to membrane		ENSG00000157693	g.chr9:117396107G>A	24513			LOW								--	--	1																																		C9orf91_uc004bje.3_Silent_p.R157R|C9orf91_uc004bjf.3_Silent_p.R77R	1	1			p.R178R	NM_153045	NP_694590			1	CI091_HUMAN	C9orf91	HGNC	Q5VZI3	CI091_HUMAN					6	751	+			UPI00001B55A1	178					SNV	C9orf91,synonymous_variant,p.=,ENST00000374049,NM_153045.3;C9orf91,synonymous_variant,p.=,ENST00000288502,;	uc004bjd.3	c.534G>A	971/2314	2	2			c.534G>A						9	SNP	c.(532-534)CGG>CGA	33	33			pancreas(1)	1	Broad	hypothetical protein LOC203197			117396107		0.567	ENSG00000157693	2456	g.chr9:117396107G>A		integral to membrane								84.826924	KEEP	17	22	-1	40	46	17	22	-1	87.907263	40	46	0.308511	1	0	0	0	0	0	0	1	0	--	--		0	A			C9orf91_uc004bje.3_Silent_p.R157R|C9orf91_uc004bjf.3_Silent_p.R77R	50	GBM-06-0214-TP	p.R178R	G	TGAGACACCGGGTGCTGCTGG	NM_153045	NP_694590	117396107	Q5VZI3	CI091_HUMAN	0			6	751	+	A	A			Silent	178						
C9orf96			GRCh37	9	136260823	136260823	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000371957.3:c.799G>T	p.Val267Leu	p.V267L	ENST00000371957	NM_153710.4	267	Gtg/Ttg	0																																																																																																																																																																																																																																												
CA11	770	broad.mit.edu	GRCh37	19	49143426	49143426	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-5415-01	TCGA-06-5415-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000084798.4:c.397C>G	p.Leu133Val	p.L133V	ENST00000084798	NM_001217.3	133	Ctg/Gtg	0			1			C	L/V	uc002pjz.1	protein_coding	YES	CCDS12729.1			397/987										0	c.(397-399)CTG>GTG			PROSITE_profiles:PS51144,hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF93,Gene3D:3.10.200.10,Pfam_domain:PF00194,SMART_domains:SM01057,Superfamily_domains:SSF51069	carbonic anhydrase XI precursor				ENSP00000084798		9-Apr									COSM2153232	9-Apr	.		ENST00000084798	Transcript				extracellular region		ENSG00000063180	g.chr19:49143426G>C	1370			MODERATE		0.46	neutral	getma.org/?cm=msa&ty=f&p=CAH11_HUMAN&rb=35&re=303&var=L133V	getma.org/pdb.php?prot=CAH11_HUMAN&from=35&to=303&var=L133V	getma.org/?cm=var&var=hg19,19,49143426,G,C&fts=all	L133V	--	--	1																																		SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron|DBP_uc002pjx.3_5'Flank|DBP_uc002pjy.2_5'Flank|DBP_uc010elz.1_5'Flank	1	1		benign(0.002)	p.L133V	NM_001217	NP_001208		tolerated(0.29)	1	CAH11_HUMAN	CA11	HGNC	O75493	CAH11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)			4	959	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	UPI000004C652	133					SNV	CA11,missense_variant,p.Leu133Val,ENST00000084798,NM_001217.3;DBP,upstream_gene_variant,,ENST00000222122,NM_001352.3;DBP,upstream_gene_variant,,ENST00000601104,;CA11,upstream_gene_variant,,ENST00000596080,;SEC1P,intron_variant,,ENST00000430145,;SEC1P,intron_variant,,ENST00000474419,;SEC1P,intron_variant,,ENST00000483163,;DBP,upstream_gene_variant,,ENST00000594723,;CA11,upstream_gene_variant,,ENST00000599267,;CA11,upstream_gene_variant,,ENST00000594088,;SEC1P,intron_variant,,ENST00000521217,;	uc002pjz.1	c.397C>G	1077/1844	3	3			c.397C>G						19	SNP	c.(397-399)CTG>GTG	64	64				0	Broad	carbonic anhydrase XI precursor			49143426		0.592	ENSG00000063180	2463	g.chr19:49143426G>C		extracellular region								118.189723	KEEP	26	30	-1	65	86	26	30	-1	124.460191	65	86	0.275362	1	0	0	0	0	1	0	0	0	--	--		0	C			SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron|DBP_uc002pjx.3_5'Flank|DBP_uc002pjy.2_5'Flank|DBP_uc010elz.1_5'Flank	98	GBM-06-5415-TP	p.L133V	G	AGCAGCCGCAGTTCACTGAGT	NM_001217	NP_001208	49143426	O75493	CAH11_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	4	959	-	C	C		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	Missense_Mutation	133						
CABIN1	23523	broad.mit.edu	GRCh37	22	24487684	24487684	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0648-01	TCGA-06-0648-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398319.2:c.3673G>A	p.Val1225Ile	p.V1225I	ENST00000398319	NM_001199281.1	1225	Gtt/Att	0		A:0.0008	1	A:0		A	V/I	uc002zzi.1	protein_coding		CCDS13823.1			3673/6663									ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5	c.(3673-3675)GTT>ATT			hmmpanther:PTHR15502,hmmpanther:PTHR15502:SF7	calcineurin binding protein 1		A:0		ENSP00000263119	A:0	24/37	8.24E-06	9.67E-05							rs528073328,COSM2151406	24/37	.		ENST00000263119	Transcript		A:0.0002	cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	ENSG00000099991	g.chr22:24487684G>A	24187			MODERATE		0.44	neutral	getma.org/?cm=msa&ty=f&p=CABIN_HUMAN&rb=291&re=1359&var=V1225I	NA	getma.org/?cm=var&var=hg19,22,24487684,G,A&fts=all	V1225I	--	--	1																																		CABIN1_uc002zzj.1_Missense_Mutation_p.V1175I|CABIN1_uc002zzl.1_Missense_Mutation_p.V1225I	0,1			probably_damaging(0.981)	p.V1225I	NM_012295	NP_036427	A:0	tolerated(0.47)	0,1	CABIN_HUMAN	CABIN1	HGNC	Q9Y6J0	CABIN_HUMAN					24	3800	+			UPI0000126D6C	1225					SNV	CABIN1,missense_variant,p.Val1225Ile,ENST00000398319,NM_001199281.1;CABIN1,missense_variant,p.Val1225Ile,ENST00000263119,NM_012295.3,NM_001201429.1;CABIN1,missense_variant,p.Val1175Ile,ENST00000405822,;CABIN1,non_coding_transcript_exon_variant,,ENST00000496016,;	uc002zzi.1	c.3673G>A	3800/7222	2	2			c.3673G>A						22	SNP	c.(3673-3675)GTT>ATT	41	41			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5	Broad	calcineurin binding protein 1			24487684		0.612	ENSG00000099991	2479	g.chr22:24487684G>A	cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity							103.227091	KEEP	34	39	-1	36	39	34	39	-1	103.227091	36	39	0.5	1	0	0	0	0	1	0	0	0	--	--		0	A			CABIN1_uc002zzj.1_Missense_Mutation_p.V1175I|CABIN1_uc002zzl.1_Missense_Mutation_p.V1225I	61	GBM-06-0648-TP	p.V1225I	G	GCCACCCACCGTTTACTTGCT	NM_012295	NP_036427	24487684	Q9Y6J0	CABIN_HUMAN	0			24	3800	+	A	A			Missense_Mutation	1225						
CABIN1	0	broad.mit.edu	GRCh37	22	24452748	24452748	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5215-01	TCGA-28-5215-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263119.5:c.1187G>A	p.Arg396His	p.R396H	ENST00000263119	NM_012295.3	396	cGt/cAt	0			1			A	R/H	uc002zzi.1	protein_coding		CCDS13823.1			1187/6663									ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5	c.(1186-1188)CGT>CAT			hmmpanther:PTHR15502,hmmpanther:PTHR15502:SF7	calcineurin binding protein 1				ENSP00000263119		Oct-37									COSM3405548	Oct-37	.		ENST00000263119	Transcript			cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	ENSG00000099991	g.chr22:24452748G>A	24187			MODERATE		2.135	medium	getma.org/?cm=msa&ty=f&p=CABIN_HUMAN&rb=291&re=1359&var=R396H	NA	getma.org/?cm=var&var=hg19,22,24452748,G,A&fts=all	R396H	--	--	1																																		CABIN1_uc002zzj.1_Missense_Mutation_p.R346H|CABIN1_uc002zzl.1_Missense_Mutation_p.R396H|CABIN1_uc010guk.1_Missense_Mutation_p.R351H|CABIN1_uc002zzk.1_Missense_Mutation_p.R351H	1			probably_damaging(0.996)	p.R396H	NM_012295	NP_036427		deleterious(0)	1	CABIN_HUMAN	CABIN1	HGNC	Q9Y6J0	CABIN_HUMAN					10	1314	+			UPI0000126D6C	396					SNV	CABIN1,missense_variant,p.Arg396His,ENST00000398319,NM_001199281.1;CABIN1,missense_variant,p.Arg396His,ENST00000263119,NM_012295.3,NM_001201429.1;CABIN1,missense_variant,p.Arg346His,ENST00000405822,;CABIN1,missense_variant,p.Arg351His,ENST00000445422,;CABIN1,missense_variant,p.Arg351His,ENST00000454754,;CABIN1,non_coding_transcript_exon_variant,,ENST00000474981,;	uc002zzi.1	c.1187G>A	1314/7222	1	1			c.1187G>A						22	SNP	c.(1186-1188)CGT>CAT	62	62			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5	Broad	calcineurin binding protein 1			24452748		0.448	ENSG00000099991	2479	g.chr22:24452748G>A	cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity							205.526568	KEEP	45	60	-1	86	137	45	60	-1	212.469079	86	137	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	A			CABIN1_uc002zzj.1_Missense_Mutation_p.R346H|CABIN1_uc002zzl.1_Missense_Mutation_p.R396H|CABIN1_uc010guk.1_Missense_Mutation_p.R351H|CABIN1_uc002zzk.1_Missense_Mutation_p.R351H	222	GBM-28-5215-TP	p.R396H	G	CGGTCTGCCCGTGTCCGAAAC	NM_012295	NP_036427	24452748	Q9Y6J0	CABIN_HUMAN	0			10	1314	+	A	A			Missense_Mutation	396						
CABIN1	0	broad.mit.edu	GRCh37	22	24561503	24561503	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-1982-01	TCGA-32-1982-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263119.5:c.4916A>G	p.Tyr1639Cys	p.Y1639C	ENST00000263119	NM_012295.3	1639	tAt/tGt	0			1			G	Y/C	uc002zzi.1	protein_coding		CCDS13823.1			4916/6663									ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5	c.(4915-4917)TAT>TGT			hmmpanther:PTHR15502,hmmpanther:PTHR15502:SF7	calcineurin binding protein 1				ENSP00000263119		31/37									COSM3405551	31/37	.		ENST00000263119	Transcript			cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	ENSG00000099991	g.chr22:24561503A>G	24187			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=CABIN_HUMAN&rb=1560&re=1668&var=Y1639C	NA	getma.org/?cm=var&var=hg19,22,24561503,A,G&fts=all	Y1639C	--	--	1																																		CABIN1_uc002zzj.1_Missense_Mutation_p.Y1560C|CABIN1_uc002zzl.1_Missense_Mutation_p.Y1639C|CABIN1_uc002zzm.1_Missense_Mutation_p.Y64C	1			probably_damaging(0.998)	p.Y1639C	NM_012295	NP_036427		deleterious(0)	1	CABIN_HUMAN	CABIN1	HGNC	Q9Y6J0	CABIN_HUMAN					31	5043	+			UPI0000126D6C	1639					SNV	CABIN1,missense_variant,p.Tyr1639Cys,ENST00000398319,NM_001199281.1;CABIN1,missense_variant,p.Tyr1639Cys,ENST00000263119,NM_012295.3,NM_001201429.1;CABIN1,missense_variant,p.Tyr1560Cys,ENST00000405822,;CABIN1,missense_variant,p.Tyr64Cys,ENST00000337989,;CABIN1,upstream_gene_variant,,ENST00000485008,;CABIN1,downstream_gene_variant,,ENST00000495121,;	uc002zzi.1	c.4916A>G	5043/7222	3	3			c.4916A>G						22	SNP	c.(4915-4917)TAT>TGT	55	55			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5	Broad	calcineurin binding protein 1			24561503		0.612	ENSG00000099991	2479	g.chr22:24561503A>G	cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity							17.538277	KEEP	1	5	-1	11	12	1	5	-1	19.263794	11	12	0.230769	1	0	0	0	0	1	0	0	0	--	--		0	G			CABIN1_uc002zzj.1_Missense_Mutation_p.Y1560C|CABIN1_uc002zzl.1_Missense_Mutation_p.Y1639C|CABIN1_uc002zzm.1_Missense_Mutation_p.Y64C	232	GBM-32-1982-TP	p.Y1639C	A	CGCAGGAAGTATCTGCGAGAT	NM_012295	NP_036427	24561503	Q9Y6J0	CABIN_HUMAN	0			31	5043	+	G	G			Missense_Mutation	1639						
CABP2	0	broad.mit.edu	GRCh37	11	67287267	67287267	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01	TCGA-14-2554-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294288.4:c.634G>A	p.Glu212Lys	p.E212K	ENST00000294288	NM_016366.2	212	Gaa/Aaa	0			1			T	E/K	uc001omc.1	protein_coding	YES	CCDS8170.1			634/663									skin(1)	1	c.(634-636)GAA>AAA			Superfamily_domains:SSF47473,SMART_domains:SM00054,Gene3D:1.10.238.10,Pfam_domain:PF13499,PROSITE_patterns:PS00018,hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF21,PROSITE_profiles:PS50222	calcium binding protein 2 isoform 1				ENSP00000294288		7-Jun									COSM3398079	7-Jun	.		ENST00000294288	Transcript	1		signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	ENSG00000167791	g.chr11:67287267C>T	1385			MODERATE		1.525	low	getma.org/?cm=msa&ty=f&p=CABP2_HUMAN&rb=172&re=220&var=E212K	getma.org/pdb.php?prot=CABP2_HUMAN&from=172&to=220&var=E212K	getma.org/?cm=var&var=hg19,11,67287267,C,T&fts=all	E212K	--	--	1																																		CABP2_uc001omd.1_Missense_Mutation_p.E155K|CABP2_uc001ome.1_Missense_Mutation_p.E218K	1	1		probably_damaging(0.998)	p.E212K	NM_016366	NP_057450		deleterious(0)	1	CABP2_HUMAN	CABP2	HGNC	Q9NPB3	CABP2_HUMAN					6	736	-			UPI000013E147	212			EF-hand 4.|3 (Potential).		SNV	CABP2,missense_variant,p.Glu212Lys,ENST00000294288,NM_016366.2;CABP2,missense_variant,p.Glu155Lys,ENST00000353903,;CABP2,3_prime_UTR_variant,,ENST00000545205,;	uc001omc.1	c.634G>A	704/925	1	1			c.634G>A						11	SNP	c.(634-636)GAA>AAA	4	4			skin(1)	1	Broad	calcium binding protein 2 isoform 1			67287267		0.572	ENSG00000167791	2483	g.chr11:67287267C>T	signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding							-4.942209	KEEP	4	8	-1	58	62	4	8	-1	15.97828	58	62	0.072072	1	0	0	0	0	1	0	0	0	--	--		0	T			CABP2_uc001omd.1_Missense_Mutation_p.E155K|CABP2_uc001ome.1_Missense_Mutation_p.E218K	150	GBM-14-2554-TP	p.E212K	C	GGGGTACCTTCGAAGTCGACC	NM_016366	NP_057450	67287267	Q9NPB3	CABP2_HUMAN	0			6	736	-	T	T			Missense_Mutation	212			EF-hand 4.|3 (Potential).			
CABP4	0	broad.mit.edu	GRCh37	11	67225877	67225877	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2631-01	TCGA-19-2631-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325656.5:c.687G>A	p.Ala229=	p.A229=	ENST00000325656	NM_145200.3	229	gcG/gcA	0			1			A	A	uc001olo.2	protein_coding	YES	CCDS8166.1			687/828										0	c.(685-687)GCG>GCA			Superfamily_domains:SSF47473,SMART_domains:SM00054,Pfam_domain:PF13499,Gene3D:1.10.238.10,PROSITE_patterns:PS00018,hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF129,PROSITE_profiles:PS50222	calcium binding protein 4				ENSP00000324960		6-May	8.24E-06	9.68E-05							rs774788112,COSM2156366,COSM3398078	6-May	.		ENST00000325656	Transcript	1		visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding	ENSG00000175544	g.chr11:67225877G>A	1386			LOW								--	--	1																																		CABP4_uc001oln.2_Silent_p.A124A	0,1,1	1			p.A229A	NM_145200	NP_660201			0,1,1	CABP4_HUMAN	CABP4	HGNC	P57796	CABP4_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)				5	764	+			UPI0000126D68	229			EF-hand 3.|2 (Potential).		SNV	CABP4,synonymous_variant,p.=,ENST00000438189,;CABP4,synonymous_variant,p.=,ENST00000325656,NM_145200.3;CTC-1337H24.2,downstream_gene_variant,,ENST00000602944,;CTC-1337H24.1,upstream_gene_variant,,ENST00000602912,;CABP4,downstream_gene_variant,,ENST00000542025,;CABP4,downstream_gene_variant,,ENST00000538060,;CABP4,downstream_gene_variant,,ENST00000542233,;CABP4,downstream_gene_variant,,ENST00000545040,;CABP4,downstream_gene_variant,,ENST00000545777,;	uc001olo.2	c.687G>A	764/1299	2	2			c.687G>A						11	SNP	c.(685-687)GCG>GCA	31	31				0	Broad	calcium binding protein 4			67225877		0.647	ENSG00000175544	2484	g.chr11:67225877G>A	visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding							148.215882	KEEP	38	40	-1	46	51	38	40	-1	148.352147	46	51	0.460784	1	0	0	0	0	0	0	1	0	--	--		0	A			CABP4_uc001oln.2_Silent_p.A124A	167	GBM-19-2631-TP	p.A229A	G	TTACGGTGGCGGAGCTGCGGG	NM_145200	NP_660201	67225877	P57796	CABP4_HUMAN	0	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		5	764	+	A	A			Silent	229			EF-hand 3.|2 (Potential).			
CABP4	0	broad.mit.edu	GRCh37	11	67225127	67225127	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-26-1439-01	TCGA-26-1439-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325656.5:c.625C>T	p.Arg209Ter	p.R209*	ENST00000325656	NM_145200.3	209	Cga/Tga	0			1			T	R/*	uc001olo.2	protein_coding	YES	CCDS8166.1			625/828										0	c.(625-627)CGA>TGA			Superfamily_domains:SSF47473,Gene3D:1.10.238.10,hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF129,PROSITE_profiles:PS50222	calcium binding protein 4				ENSP00000324960		6-Apr	1.66E-05			0.000254		3.74E-05			rs779788706,COSM2156876,COSM3398077	6-Apr	.		ENST00000325656	Transcript	1		visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding	ENSG00000175544	g.chr11:67225127C>T	1386			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,11,67225127,C,T&fts=all	R209*	--	--	1																																		CABP4_uc001oln.2_Nonsense_Mutation_p.R104*	0,1,1	1			p.R209*	NM_145200	NP_660201			0,1,1	CABP4_HUMAN	CABP4	HGNC	P57796	CABP4_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)				4	702	+			UPI0000126D68	209			EF-hand 3.		SNV	CABP4,stop_gained,p.Arg104Ter,ENST00000438189,;CABP4,stop_gained,p.Arg209Ter,ENST00000325656,NM_145200.3;GPR152,upstream_gene_variant,,ENST00000312457,NM_206997.1;CTC-1337H24.2,downstream_gene_variant,,ENST00000602944,;CTC-1337H24.1,upstream_gene_variant,,ENST00000602912,;CABP4,downstream_gene_variant,,ENST00000542025,;CABP4,downstream_gene_variant,,ENST00000538060,;CABP4,downstream_gene_variant,,ENST00000542233,;CABP4,downstream_gene_variant,,ENST00000545040,;CABP4,downstream_gene_variant,,ENST00000545777,;	uc001olo.2	c.625C>T	702/1299	5	2			c.625C>T						11	SNP	c.(625-627)CGA>TGA	48	48				0	Broad	calcium binding protein 4			67225127		0.637	ENSG00000175544	2484	g.chr11:67225127C>T	visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding							32.350236	KEEP	5	6	-1	8	7	5	6	-1	32.3894	8	7	0.454545	1	0	0	0	0	0	1	0	0	--	--		0	T			CABP4_uc001oln.2_Nonsense_Mutation_p.R104*	179	GBM-26-1439-TP	p.R209*	C	GCTGGGGGTGCGAGAGCTGCG	NM_145200	NP_660201	67225127	P57796	CABP4_HUMAN	0	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		4	702	+	T	T			Nonsense_Mutation	209			EF-hand 3.			
CABP4	0	broad.mit.edu	GRCh37	11	67223870	67223870	+	synonymous_variant	Silent	SNP	C	C	T	rs139927588		TCGA-27-1836-01	TCGA-27-1836-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325656.5:c.498C>T	p.Thr166=	p.T166=	ENST00000325656	NM_145200.3	166	acC/acT	0	T:0.0002		1			T	T	uc001olo.2	protein_coding	YES	CCDS8166.1			498/828										0	c.(496-498)ACC>ACT			Superfamily_domains:SSF47473,Gene3D:1.10.238.10,hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF129	calcium binding protein 4			T:0	ENSP00000324960		6-Mar									rs139927588,COSM3398075,COSM3398076	6-Mar	.		ENST00000325656	Transcript	1		visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding	ENSG00000175544	g.chr11:67223870C>T	1386			LOW								--	--	1																																		CABP4_uc001oln.2_Silent_p.T61T	0,1,1	1			p.T166T	NM_145200	NP_660201			0,1,1	CABP4_HUMAN	CABP4	HGNC	P57796	CABP4_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)				3	575	+			UPI0000126D68	166			EF-hand 2.		SNV	CABP4,synonymous_variant,p.=,ENST00000438189,;CABP4,synonymous_variant,p.=,ENST00000325656,NM_145200.3;GPR152,upstream_gene_variant,,ENST00000312457,NM_206997.1;CTC-1337H24.1,upstream_gene_variant,,ENST00000602912,;CABP4,downstream_gene_variant,,ENST00000542025,;CABP4,downstream_gene_variant,,ENST00000538060,;CABP4,downstream_gene_variant,,ENST00000542233,;CABP4,3_prime_UTR_variant,,ENST00000545777,;CABP4,downstream_gene_variant,,ENST00000545040,;	uc001olo.2	c.498C>T	575/1299	2	2			c.498C>T						11	SNP	c.(496-498)ACC>ACT	44	44				0	Broad	calcium binding protein 4			67223870		0.652	ENSG00000175544	2484	g.chr11:67223870C>T	visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding							70.81072	KEEP	12	12	-1	21	24	12	12	-1	71.923612	21	24	0.359375	1	0	0	0	0	0	0	1	0	--	--		0	T			CABP4_uc001oln.2_Silent_p.T61T	195	GBM-27-1836-TP	p.T166T	C	ACATGCCCACCGAGATGGAGC	NM_145200	NP_660201	67223870	P57796	CABP4_HUMAN	0	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		3	575	+	T	T			Silent	166			EF-hand 2.			
CABS1	0	broad.mit.edu	GRCh37	4	71201281	71201281	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-1825-01	TCGA-14-1825-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273936.5:c.525C>T	p.Asp175=	p.D175=	ENST00000273936	NM_033122.3	175	gaC/gaT	0		T:0	1	T:0		T	D	uc003hff.2	protein_coding	YES	CCDS3539.1			525/1188										0	c.(523-525)GAC>GAT			hmmpanther:PTHR22810,Pfam_domain:PF15367	testis development protein NYD-SP26		T:0		ENSP00000273936	T:0	2-Jan	0.000222		8.76E-05	0.000117		3.02E-05		0.0014	rs541997419,COSM3409449	2-Jan	common_variant		ENST00000273936	Transcript		T:0.0006		flagellum	calcium ion binding	ENSG00000145309	g.chr4:71201281C>T	30710			LOW								--	--	1																																			0,1	1			p.D175D	NM_033122	NP_149113	T:0.0031		0,1	CABS1_HUMAN	CABS1	HGNC	Q96KC9	CABS1_HUMAN					1	611	+		all_hematologic(202;0.196)	UPI0000071735	175					SNV	CABS1,synonymous_variant,p.=,ENST00000273936,NM_033122.3;	uc003hff.2	c.525C>T	599/1532	2	2			c.525C>T						4	SNP	c.(523-525)GAC>GAT	17	17				0	Broad	testis development protein NYD-SP26			71201281		0.463	ENSG00000145309	2219	g.chr4:71201281C>T		flagellum	calcium ion binding							118.048709	KEEP	16	23	-1	27	18	16	23	-1	118.073263	27	18	0.481013	1	0	0	0	0	0	0	1	0	--	--		0	T				148	GBM-14-1825-TP	p.D175D	C	GTGTTGCTGACGCTCCTGCCT	NM_033122	NP_149113	71201281	Q96KC9	CABS1_HUMAN	0			1	611	+	T	T		all_hematologic(202;0.196)	Silent	175						
CABS1	85438		GRCh37	4	71201240	71201240	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000273936.5:c.484G>A	p.Val162Ile	p.V162I	ENST00000273936	NM_033122.3	162	Gtc/Atc	0																																																																																																																																																																																																																																												
CACHD1	0	broad.mit.edu	GRCh37	1	65141094	65141094	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-87-5896-01	TCGA-87-5896-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290039.5:c.2585C>T	p.Thr862Met	p.T862M	ENST00000290039	NM_020925.2	862	aCg/aTg	0		T:0	1	T:0.0014		T	T/M	uc001dbo.1	protein_coding	YES	CCDS628.2			2585/3672									ovary(2)	2	c.(2584-2586)ACG>ATG			hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF28	cache domain containing 1		T:0		ENSP00000290039	T:0	20/27	8.24E-06		8.65E-05						rs182391558,COSM3400948	20/27	.		ENST00000290039	Transcript		T:0.0002	calcium ion transport	integral to membrane		ENSG00000158966	g.chr1:65141094C>T	29314			MODERATE		2.05	medium	getma.org/?cm=msa&ty=f&p=CAHD1_HUMAN&rb=860&re=1059&var=T913M	NA	getma.org/?cm=var&var=hg19,1,65141094,C,T&fts=all	T913M	--	--	1																																OREG0013544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	CACHD1_uc001dbp.1_Missense_Mutation_p.T617M|CACHD1_uc001dbq.1_Missense_Mutation_p.T617M|CACHD1_uc010opa.1_Missense_Mutation_p.T106M	0,1	1		possibly_damaging(0.84)	p.T862M	NM_020925	NP_065976	T:0	deleterious(0)	0,1		CACHD1	HGNC	Q5VU97	CAHD1_HUMAN					20	2690	+			UPI0000458A70	913			Extracellular (Potential).		SNV	CACHD1,missense_variant,p.Thr913Met,ENST00000371073,;CACHD1,missense_variant,p.Thr862Met,ENST00000290039,NM_020925.2;CACHD1,non_coding_transcript_exon_variant,,ENST00000495994,;CACHD1,non_coding_transcript_exon_variant,,ENST00000470527,;	uc001dbo.1	c.2585C>T	2691/5275	2	2			c.2585C>T						1	SNP	c.(2584-2586)ACG>ATG	28	28			ovary(2)	2	Broad	cache domain containing 1			65141094		0.463	ENSG00000158966	2488	g.chr1:65141094C>T	calcium ion transport	integral to membrane								67.913757	KEEP	18	10	-1	18	20	18	10	-1	68.540319	18	20	0.389831	1	0	0	0	0	1	0	0	0	--	--		0	T	OREG0013544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	CACHD1_uc001dbp.1_Missense_Mutation_p.T617M|CACHD1_uc001dbq.1_Missense_Mutation_p.T617M|CACHD1_uc010opa.1_Missense_Mutation_p.T106M	291	GBM-87-5896-TP	p.T862M	C	GGGGATTTGACGAACCTTGTG	NM_020925	NP_065976	65141094	Q5VU97	CAHD1_HUMAN	0			20	2690	+	T	T			Missense_Mutation	913			Extracellular (Potential).			
CACNA1A	773	broad.mit.edu	GRCh37	19	13340971	13340971	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01	TCGA-06-0173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360228.5:c.5453G>A	p.Arg1818Gln	p.R1818Q	ENST00000360228	NM_001127222.1	1818	cGa/cAa	0			1			T	R/Q	uc010dze.2	protein_coding	YES	CCDS45998.1			5453/7521									large_intestine(2)	2	c.(5455-5457)CGA>CAA			hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF59	calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)			ENSP00000353362		36/47	8.26E-06	0.000102							rs745900417,COSM3403809,COSM3403808,COSM3403810,COSM3403807	36/47	.		ENST00000360228	Transcript	1		cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	ENSG00000141837	g.chr19:13340971C>T	1388			MODERATE		3.16	medium	getma.org/?cm=msa&ty=f&p=CAC1A_HUMAN&rb=1811&re=1947&var=R1819Q	getma.org/pdb.php?prot=CAC1A_HUMAN&from=1811&to=1947&var=R1819Q	getma.org/?cm=var&var=hg19,19,13340971,C,T&fts=all	R1819Q	--	--	1																																		CACNA1A_uc010xnd.1_Missense_Mutation_p.R524Q|CACNA1A_uc002mwx.3_Missense_Mutation_p.R524Q|CACNA1A_uc010dzc.2_Missense_Mutation_p.R1344Q|CACNA1A_uc002mwy.3_Missense_Mutation_p.R1818Q|CACNA1A_uc002mwv.3_Missense_Mutation_p.R335Q	0,1,1,1,1	1		benign(0.417)	p.R1819Q	NM_001127221	NP_001120693			0,1,1,1,1	CAC1A_HUMAN	CACNA1A	HGNC	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Q9UN69_HUMAN,Q9UHM9_HUMAN		36	5692	-			UPI0000141565	1819			Cytoplasmic (Potential).		SNV	CACNA1A,missense_variant,p.Arg1818Gln,ENST00000360228,NM_001127222.1,NM_001174080.1,NM_023035.2,NM_000068.3;CACNA1A,missense_variant,p.Arg1819Gln,ENST00000573710,NM_001127221.1;CACNA1A,missense_variant,p.Arg305Gln,ENST00000587525,;CACNA1A,missense_variant,p.Arg504Gln,ENST00000585802,;CACNA1A,non_coding_transcript_exon_variant,,ENST00000574822,;CACNA1A,downstream_gene_variant,,ENST00000573891,;CACNA1A,downstream_gene_variant,,ENST00000593267,;	uc010dze.2	c.5456G>A	5453/8392	2	2			c.5456G>A						19	SNP	c.(5455-5457)CGA>CAA	18	18			large_intestine(2)	2	Broad	calcium channel, alpha 1A subunit isoform 3		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	13340971		0.597	ENSG00000141837	2489	g.chr19:13340971C>T	cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding							13.866476	KEEP	6	4	-1	24	30	6	4	-1	20.513213	24	30	0.145455	1	0	0	0	0	1	0	0	0	--	--		0	T			CACNA1A_uc010xnd.1_Missense_Mutation_p.R524Q|CACNA1A_uc002mwx.3_Missense_Mutation_p.R524Q|CACNA1A_uc010dzc.2_Missense_Mutation_p.R1344Q|CACNA1A_uc002mwy.3_Missense_Mutation_p.R1818Q|CACNA1A_uc002mwv.3_Missense_Mutation_p.R335Q	36	GBM-06-0173-TP	p.R1819Q	C	GGAGGAGTCTCGGGTGAGGTA	NM_001127221	NP_001120693	13340971	O00555	CAC1A_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		36	5692	-	T	T			Missense_Mutation	1819			Cytoplasmic (Potential).			
CACNA1A	0	broad.mit.edu	GRCh37	19	13410023	13410023	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-1833-01	TCGA-27-1833-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360228.5:c.2424G>A	p.Thr808=	p.T808=	ENST00000360228	NM_001127222.1	808	acG/acA	0			1			T	T	uc010dze.2	protein_coding	YES	CCDS45998.1			2424/7521									large_intestine(2)	2	c.(2425-2427)ACG>ACA			hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF59	calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)			ENSP00000353362		19/47									COSM3403817,COSM3403816,COSM3403818,COSM3403815	19/47	.		ENST00000360228	Transcript	1		cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	ENSG00000141837	g.chr19:13410023C>T	1388			LOW								--	--	1																																		CACNA1A_uc010dzc.2_Silent_p.T334T|CACNA1A_uc002mwy.3_Silent_p.T808T|CACNA1A_uc010xne.1_Silent_p.T337T	1,1,1,1	1			p.T809T	NM_001127221	NP_001120693			1,1,1,1	CAC1A_HUMAN	CACNA1A	HGNC	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Q9UN69_HUMAN,Q9UHM9_HUMAN		19	2663	-			UPI0000141565	809			Cytoplasmic (Potential).		SNV	CACNA1A,synonymous_variant,p.=,ENST00000360228,NM_001127222.1,NM_001174080.1,NM_023035.2,NM_000068.3;CACNA1A,synonymous_variant,p.=,ENST00000573710,NM_001127221.1;	uc010dze.2	c.2427G>A	2424/8392	2	2			c.2427G>A						19	SNP	c.(2425-2427)ACG>ACA	32	32			large_intestine(2)	2	Broad	calcium channel, alpha 1A subunit isoform 3		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	13410023		0.642	ENSG00000141837	2489	g.chr19:13410023C>T	cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding							58.051557	KEEP	18	15	-1	47	57	18	15	-1	65.170076	47	57	0.231481	1	0	0	0	0	0	0	1	0	--	--		0	T			CACNA1A_uc010dzc.2_Silent_p.T334T|CACNA1A_uc002mwy.3_Silent_p.T808T|CACNA1A_uc010xne.1_Silent_p.T337T	192	GBM-27-1833-TP	p.T809T	C	GCAGGTGCCGCGTGTAGGCAG	NM_001127221	NP_001120693	13410023	O00555	CAC1A_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		19	2663	-	T	T			Silent	809			Cytoplasmic (Potential).			
CACNA1A	0	broad.mit.edu	GRCh37	19	13355996	13355996	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T			TCGA-32-2634-01	TCGA-32-2634-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360228.5:c.4950G>A	p.Gly1650=	p.G1650=	ENST00000360228	NM_001127222.1	1650	ggG/ggA	0			1			T	G	uc010dze.2	protein_coding	YES	CCDS45998.1			4950/7521									large_intestine(2)	2	c.(4951-4953)GGG>GGA			Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF59,Superfamily_domains:SSF81324	calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)			ENSP00000353362		31/47									COSM3403813,COSM3403812,COSM3403814,COSM3403811	31/47	.		ENST00000360228	Transcript	1		cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	ENSG00000141837	g.chr19:13355996C>T	1388			LOW								--	--	1																																		CACNA1A_uc010xnd.1_Silent_p.G356G|CACNA1A_uc002mwx.3_Silent_p.G356G|CACNA1A_uc010dzc.2_Silent_p.G1176G|CACNA1A_uc002mwy.3_Silent_p.G1650G|CACNA1A_uc010xne.1_Silent_p.G1179G|CACNA1A_uc002mwv.3_Silent_p.G167G	1,1,1,1	1			p.G1651G	NM_001127221	NP_001120693			1,1,1,1	CAC1A_HUMAN	CACNA1A	HGNC	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Q9UN69_HUMAN,Q9UHM9_HUMAN		31	5189	-			UPI0000141565	1651	G -> GNP (in Ref. 1; AAB61613/AAB61612).		Extracellular (Potential).|IV.		SNV	CACNA1A,splice_region_variant,p.=,ENST00000360228,NM_001127222.1,NM_001174080.1,NM_023035.2,NM_000068.3;CACNA1A,splice_region_variant,p.=,ENST00000573710,NM_001127221.1;CACNA1A,splice_region_variant,p.=,ENST00000587525,;CACNA1A,splice_region_variant,p.=,ENST00000585802,;CACNA1A,splice_region_variant,,ENST00000574822,;CACNA1A,splice_region_variant,p.=,ENST00000573891,;	uc010dze.2	c.4953G>A	4950/8392	2	2			c.4953G>A						19	SNP	c.(4951-4953)GGG>GGA	43	43			large_intestine(2)	2	Broad	calcium channel, alpha 1A subunit isoform 3		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	13355996		0.597	ENSG00000141837	2489	g.chr19:13355996C>T	cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding							55.229394	KEEP	12	8	-1	25	19	12	8	-1	56.68561	25	19	0.327273	1	0	0	0	0	0	0	1	0	--	--		0	T			CACNA1A_uc010xnd.1_Silent_p.G356G|CACNA1A_uc002mwx.3_Silent_p.G356G|CACNA1A_uc010dzc.2_Silent_p.G1176G|CACNA1A_uc002mwy.3_Silent_p.G1650G|CACNA1A_uc010xne.1_Silent_p.G1179G|CACNA1A_uc002mwv.3_Silent_p.G167G	241	GBM-32-2634-TP	p.G1651G	C	GGAGACTTACCCCAAACTCAG	NM_001127221	NP_001120693	13355996	O00555	CAC1A_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		31	5189	-	T	T			Silent	1651	G -> GNP (in Ref. 1; AAB61613/AAB61612).		Extracellular (Potential).|IV.			
CACNA1B	774		GRCh37	9	140777224	140777224	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000371372.1:c.419T>C	p.Ile140Thr	p.I140T	ENST00000371372	NM_001243812.1	140	aTc/aCc	0																																																																																																																																																																																																																																												
CACNA1C	775	broad.mit.edu	GRCh37	12	2566754	2566754	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0155-01	TCGA-06-0155-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000347598.4:c.639A>G	p.Glu213=	p.E213=	ENST00000347598	NM_199460.2	213	gaA/gaG	0			1			G	E	uc009zdu.1	protein_coding	YES	CCDS44788.1			639/6561									ovary(10)|central_nervous_system(1)	11	c.(637-639)GAA>GAG			hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF188,Gene3D:1.20.120.350,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Prints_domain:PR01630	calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)			ENSP00000266376		May-49									COSM3398625,COSM3398623,COSM3398622,COSM3398624,COSM3398626	May-49	.		ENST00000347598	Transcript	1		axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	ENSG00000151067	g.chr12:2566754A>G	1390			LOW								--	--	1																																		CACNA1C_uc009zdv.1_Silent_p.E213E|CACNA1C_uc001qkb.2_Silent_p.E213E|CACNA1C_uc001qkc.2_Silent_p.E213E|CACNA1C_uc001qke.2_Silent_p.E213E|CACNA1C_uc001qkf.2_Silent_p.E213E|CACNA1C_uc001qjz.2_Silent_p.E213E|CACNA1C_uc001qkd.2_Silent_p.E213E|CACNA1C_uc001qkg.2_Silent_p.E213E|CACNA1C_uc009zdw.1_Silent_p.E213E|CACNA1C_uc001qkh.2_Silent_p.E213E|CACNA1C_uc001qkl.2_Silent_p.E213E|CACNA1C_uc001qkn.2_Silent_p.E213E|CACNA1C_uc001qko.2_Silent_p.E213E|CACNA1C_uc001qkp.2_Silent_p.E213E|CACNA1C_uc001qkr.2_Silent_p.E213E|CACNA1C_uc001qku.2_Silent_p.E213E|CACNA1C_uc001qkq.2_Silent_p.E213E|CACNA1C_uc001qks.2_Silent_p.E213E|CACNA1C_uc001qkt.2_Silent_p.E213E|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_5'UTR|CACNA1C_uc001qkj.1_5'UTR|CACNA1C_uc001qkk.1_5'UTR|CACNA1C_uc001qkm.1_5'UTR	1,1,1,1,1	1			p.E213E	NM_199460	NP_955630			1,1,1,1,1	CAC1C_HUMAN	CACNA1C	HGNC	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Q86XX0_HUMAN,O95234_HUMAN		5	952	+			UPI0000E593E5	213			Extracellular (Potential).|I.		SNV	CACNA1C,synonymous_variant,p.=,ENST00000399655,NM_001129834.1,NM_001129829.1,NM_000719.6;CACNA1C,synonymous_variant,p.=,ENST00000406454,;CACNA1C,synonymous_variant,p.=,ENST00000399634,NM_001167625.1;CACNA1C,synonymous_variant,p.=,ENST00000399617,NM_001167624.1;CACNA1C,synonymous_variant,p.=,ENST00000399603,NM_001167623.1;CACNA1C,synonymous_variant,p.=,ENST00000335762,;CACNA1C,synonymous_variant,p.=,ENST00000480911,;CACNA1C,synonymous_variant,p.=,ENST00000347598,NM_199460.2,NM_001129827.1;CACNA1C,synonymous_variant,p.=,ENST00000344100,;CACNA1C,synonymous_variant,p.=,ENST00000327702,NM_001129830.1;CACNA1C,synonymous_variant,p.=,ENST00000399638,NM_001129831.1;CACNA1C,synonymous_variant,p.=,ENST00000399606,NM_001129832.1;CACNA1C,synonymous_variant,p.=,ENST00000399637,NM_001129835.1;CACNA1C,synonymous_variant,p.=,ENST00000402845,NM_001129833.1;CACNA1C,synonymous_variant,p.=,ENST00000399621,;CACNA1C,synonymous_variant,p.=,ENST00000399629,NM_001129836.1;CACNA1C,synonymous_variant,p.=,ENST00000399595,NM_001129837.1;CACNA1C,synonymous_variant,p.=,ENST00000399591,NM_001129838.1,NM_001129846.1;CACNA1C,synonymous_variant,p.=,ENST00000399649,NM_001129839.1;CACNA1C,synonymous_variant,p.=,ENST00000399644,NM_001129841.1;CACNA1C,synonymous_variant,p.=,ENST00000399601,NM_001129843.1;CACNA1C,synonymous_variant,p.=,ENST00000399597,NM_001129844.1,NM_001129842.1;CACNA1C,synonymous_variant,p.=,ENST00000399641,NM_001129840.1;	uc009zdu.1	c.639A>G	639/6655	3	3			c.639A>G						12	SNP	c.(637-639)GAA>GAG	64	64			ovary(10)|central_nervous_system(1)	11	Broad	calcium channel, voltage-dependent, L type,		Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	2566754		0.557	ENSG00000151067	2491	g.chr12:2566754A>G	axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity							258.437122	KEEP	36	48	-1	76	86	36	48	-1	264.039509	76	86	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	G			CACNA1C_uc009zdv.1_Silent_p.E213E|CACNA1C_uc001qkb.2_Silent_p.E213E|CACNA1C_uc001qkc.2_Silent_p.E213E|CACNA1C_uc001qke.2_Silent_p.E213E|CACNA1C_uc001qkf.2_Silent_p.E213E|CACNA1C_uc001qjz.2_Silent_p.E213E|CACNA1C_uc001qkd.2_Silent_p.E213E|CACNA1C_uc001qkg.2_Silent_p.E213E|CACNA1C_uc009zdw.1_Silent_p.E213E|CACNA1C_uc001qkh.2_Silent_p.E213E|CACNA1C_uc001qkl.2_Silent_p.E213E|CACNA1C_uc001qkn.2_Silent_p.E213E|CACNA1C_uc001qko.2_Silent_p.E213E|CACNA1C_uc001qkp.2_Silent_p.E213E|CACNA1C_uc001qkr.2_Silent_p.E213E|CACNA1C_uc001qku.2_Silent_p.E213E|CACNA1C_uc001qkq.2_Silent_p.E213E|CACNA1C_uc001qks.2_Silent_p.E213E|CACNA1C_uc001qkt.2_Silent_p.E213E|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_5'UTR|CACNA1C_uc001qkj.1_5'UTR|CACNA1C_uc001qkk.1_5'UTR|CACNA1C_uc001qkm.1_5'UTR	27	GBM-06-0155-TP	p.E213E	A	CAATTTTAGAACAAGCAACCA	NM_199460	NP_955630	2566754	Q13936	CAC1C_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	5	952	+	G	G			Silent	213			Extracellular (Potential).|I.			
CACNA1C	775	broad.mit.edu	GRCh37	12	2786282	2786282	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0649-01	TCGA-06-0649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000347598.4:c.4995G>T	p.Lys1665Asn	p.K1665N	ENST00000347598	NM_199460.2	1665	aaG/aaT	0			1			T	K/N	uc009zdu.1	protein_coding	YES	CCDS44788.1			4995/6561									ovary(10)|central_nervous_system(1)	11	c.(4993-4995)AAG>AAT			hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF188,Pfam_domain:PF08763,SMART_domains:SM01062	calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)			ENSP00000266376		42/49									COSM3398647,COSM3398645,COSM3398644,COSM3398646,COSM3398648,COSM3398649	42/49	.		ENST00000347598	Transcript	1		axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	ENSG00000151067	g.chr12:2786282G>T	1390			MODERATE		2.415	medium	getma.org/?cm=msa&ty=f&p=CAC1C_HUMAN&rb=1658&re=1691&var=K1665N	getma.org/pdb.php?prot=CAC1C_HUMAN&from=1658&to=1691&var=K1665N	getma.org/?cm=var&var=hg19,12,2786282,G,T&fts=all	K1665N	--	--	1																																		CACNA1C_uc009zdv.1_Missense_Mutation_p.K1614N|CACNA1C_uc001qkb.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkc.2_Missense_Mutation_p.K1636N|CACNA1C_uc001qke.2_Missense_Mutation_p.K1606N|CACNA1C_uc001qkf.2_Missense_Mutation_p.K1625N|CACNA1C_uc001qjz.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkd.2_Missense_Mutation_p.K1636N|CACNA1C_uc001qkg.2_Missense_Mutation_p.K1623N|CACNA1C_uc009zdw.1_Missense_Mutation_p.K1658N|CACNA1C_uc001qkh.2_Missense_Mutation_p.K1625N|CACNA1C_uc001qkl.2_Missense_Mutation_p.K1665N|CACNA1C_uc001qkn.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qko.2_Missense_Mutation_p.K1637N|CACNA1C_uc001qkp.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkr.2_Missense_Mutation_p.K1634N|CACNA1C_uc001qku.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkq.2_Missense_Mutation_p.K1645N|CACNA1C_uc001qks.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkt.2_Missense_Mutation_p.K1636N|CACNA1C_uc001qki.1_Missense_Mutation_p.K1353N|CACNA1C_uc001qkj.1_Missense_Mutation_p.K1353N|CACNA1C_uc001qkk.1_Missense_Mutation_p.K1353N|CACNA1C_uc001qkm.1_Missense_Mutation_p.K1342N|CACNA1C_uc010sea.1_Missense_Mutation_p.K308N|uc001qkx.1_RNA|CACNA1C_uc001qky.1_5'Flank	1,1,1,1,1,1	1		probably_damaging(0.983)	p.K1665N	NM_199460	NP_955630		deleterious(0)	1,1,1,1,1,1	CAC1C_HUMAN	CACNA1C	HGNC	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Q86XX0_HUMAN,O95234_HUMAN		42	5308	+			UPI0000E593E5	1665			Cytoplasmic (Potential).		SNV	CACNA1C,missense_variant,p.Lys1617Asn,ENST00000399655,NM_001129834.1,NM_001129829.1,NM_000719.6;CACNA1C,missense_variant,p.Lys1617Asn,ENST00000399634,NM_001167625.1;CACNA1C,missense_variant,p.Lys1617Asn,ENST00000406454,;CACNA1C,missense_variant,p.Lys1617Asn,ENST00000399617,NM_001167624.1;CACNA1C,missense_variant,p.Lys1617Asn,ENST00000399603,NM_001167623.1;CACNA1C,missense_variant,p.Lys1642Asn,ENST00000335762,;CACNA1C,missense_variant,p.Lys1665Asn,ENST00000347598,NM_199460.2,NM_001129827.1;CACNA1C,missense_variant,p.Lys1658Asn,ENST00000344100,;CACNA1C,missense_variant,p.Lys1617Asn,ENST00000327702,NM_001129830.1;CACNA1C,missense_variant,p.Lys1645Asn,ENST00000399638,NM_001129831.1;CACNA1C,missense_variant,p.Lys1637Asn,ENST00000399606,NM_001129832.1;CACNA1C,missense_variant,p.Lys1636Asn,ENST00000399621,;CACNA1C,missense_variant,p.Lys1636Asn,ENST00000399637,NM_001129835.1;CACNA1C,missense_variant,p.Lys1636Asn,ENST00000402845,NM_001129833.1;CACNA1C,missense_variant,p.Lys1634Asn,ENST00000399629,NM_001129836.1;CACNA1C,missense_variant,p.Lys1625Asn,ENST00000399591,NM_001129838.1,NM_001129846.1;CACNA1C,missense_variant,p.Lys1625Asn,ENST00000399595,NM_001129837.1;CACNA1C,missense_variant,p.Lys1623Asn,ENST00000399649,NM_001129839.1;CACNA1C,missense_variant,p.Lys1617Asn,ENST00000399641,NM_001129840.1;CACNA1C,missense_variant,p.Lys1617Asn,ENST00000399597,NM_001129844.1,NM_001129842.1;CACNA1C,missense_variant,p.Lys1617Asn,ENST00000399644,NM_001129841.1;CACNA1C,missense_variant,p.Lys1617Asn,ENST00000399601,NM_001129843.1;CACNA1C-AS1,non_coding_transcript_exon_variant,,ENST00000501371,;CACNA1C-AS2,upstream_gene_variant,,ENST00000545526,;CACNA1C,non_coding_transcript_exon_variant,,ENST00000465934,;	uc009zdu.1	c.4995G>T	4995/6655	2	2			c.4995G>T						12	SNP	c.(4993-4995)AAG>AAT	18	18			ovary(10)|central_nervous_system(1)	11	Broad	calcium channel, voltage-dependent, L type,		Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	2786282		0.527	ENSG00000151067	2491	g.chr12:2786282G>T	axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity							13.436111	KEEP	1	5	0.166666667	10	8	1	5	0.166666667	14.629426	10	8	0.26087	1	0	0	0	0	1	0	0	0	--	--		0	T			CACNA1C_uc009zdv.1_Missense_Mutation_p.K1614N|CACNA1C_uc001qkb.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkc.2_Missense_Mutation_p.K1636N|CACNA1C_uc001qke.2_Missense_Mutation_p.K1606N|CACNA1C_uc001qkf.2_Missense_Mutation_p.K1625N|CACNA1C_uc001qjz.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkd.2_Missense_Mutation_p.K1636N|CACNA1C_uc001qkg.2_Missense_Mutation_p.K1623N|CACNA1C_uc009zdw.1_Missense_Mutation_p.K1658N|CACNA1C_uc001qkh.2_Missense_Mutation_p.K1625N|CACNA1C_uc001qkl.2_Missense_Mutation_p.K1665N|CACNA1C_uc001qkn.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qko.2_Missense_Mutation_p.K1637N|CACNA1C_uc001qkp.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkr.2_Missense_Mutation_p.K1634N|CACNA1C_uc001qku.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkq.2_Missense_Mutation_p.K1645N|CACNA1C_uc001qks.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkt.2_Missense_Mutation_p.K1636N|CACNA1C_uc001qki.1_Missense_Mutation_p.K1353N|CACNA1C_uc001qkj.1_Missense_Mutation_p.K1353N|CACNA1C_uc001qkk.1_Missense_Mutation_p.K1353N|CACNA1C_uc001qkm.1_Missense_Mutation_p.K1342N|CACNA1C_uc010sea.1_Missense_Mutation_p.K308N|uc001qkx.1_RNA|CACNA1C_uc001qky.1_5'Flank	62	GBM-06-0649-TP	p.K1665N	G	CCGTTGGCAAGTTCTACGCCA	NM_199460	NP_955630	2786282	Q13936	CAC1C_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	42	5308	+	T	T			Missense_Mutation	1665			Cytoplasmic (Potential).			
CACNA1C	775	broad.mit.edu	GRCh37	12	2716205	2716205	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000347598.4:c.3325C>T	p.Arg1109Cys	p.R1109C	ENST00000347598	NM_199460.2	1109	Cgc/Tgc	0			1			T	R/C	uc009zdu.1	protein_coding	YES	CCDS44788.1			3325/6561									ovary(10)|central_nervous_system(1)	11	c.(3325-3327)CGC>TGC			hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF188,Pfam_domain:PF00520	calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)			ENSP00000266376		27/49									COSM2151833,COSM2151831,COSM2151830,COSM2151832,COSM2151834,COSM2151835	27/49	.		ENST00000347598	Transcript	1		axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	ENSG00000151067	g.chr12:2716205C>T	1390			MODERATE		3.875	high	getma.org/?cm=msa&ty=f&p=CAC1C_HUMAN&rb=955&re=1185&var=R1109C	NA	getma.org/?cm=var&var=hg19,12,2716205,C,T&fts=all	R1109C	--	--	1																																		CACNA1C_uc009zdv.1_Missense_Mutation_p.R1086C|CACNA1C_uc001qkb.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkc.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qke.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkf.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qjz.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkd.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkg.2_Missense_Mutation_p.R1089C|CACNA1C_uc009zdw.1_Missense_Mutation_p.R1089C|CACNA1C_uc001qkh.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkl.2_Missense_Mutation_p.R1109C|CACNA1C_uc001qkn.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qko.2_Missense_Mutation_p.R1109C|CACNA1C_uc001qkp.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkr.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qku.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkq.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qks.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkt.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qka.1_Missense_Mutation_p.R624C|CACNA1C_uc001qki.1_Missense_Mutation_p.R825C|CACNA1C_uc001qkj.1_Missense_Mutation_p.R825C|CACNA1C_uc001qkk.1_Missense_Mutation_p.R825C|CACNA1C_uc001qkm.1_Missense_Mutation_p.R825C	1,1,1,1,1,1	1		probably_damaging(0.999)	p.R1109C	NM_199460	NP_955630		deleterious(0)	1,1,1,1,1,1	CAC1C_HUMAN	CACNA1C	HGNC	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Q86XX0_HUMAN,O95234_HUMAN		27	3638	+			UPI0000E593E5	1109			Extracellular (Potential).|III.|Dihydropyridine binding (By similarity).		SNV	CACNA1C,missense_variant,p.Arg1089Cys,ENST00000399655,NM_001129834.1,NM_001129829.1,NM_000719.6;CACNA1C,missense_variant,p.Arg1089Cys,ENST00000406454,;CACNA1C,missense_variant,p.Arg1089Cys,ENST00000399634,NM_001167625.1;CACNA1C,missense_variant,p.Arg1089Cys,ENST00000399617,NM_001167624.1;CACNA1C,missense_variant,p.Arg1089Cys,ENST00000399603,NM_001167623.1;CACNA1C,missense_variant,p.Arg1114Cys,ENST00000335762,;CACNA1C,missense_variant,p.Arg1089Cys,ENST00000480911,;CACNA1C,missense_variant,p.Arg1109Cys,ENST00000347598,NM_199460.2,NM_001129827.1;CACNA1C,missense_variant,p.Arg1089Cys,ENST00000344100,;CACNA1C,missense_variant,p.Arg1089Cys,ENST00000327702,NM_001129830.1;CACNA1C,missense_variant,p.Arg1089Cys,ENST00000399638,NM_001129831.1;CACNA1C,missense_variant,p.Arg1109Cys,ENST00000399606,NM_001129832.1;CACNA1C,missense_variant,p.Arg1089Cys,ENST00000399637,NM_001129835.1;CACNA1C,missense_variant,p.Arg1089Cys,ENST00000402845,NM_001129833.1;CACNA1C,missense_variant,p.Arg1089Cys,ENST00000399621,;CACNA1C,missense_variant,p.Arg1089Cys,ENST00000399629,NM_001129836.1;CACNA1C,missense_variant,p.Arg1089Cys,ENST00000399595,NM_001129837.1;CACNA1C,missense_variant,p.Arg1089Cys,ENST00000399591,NM_001129838.1,NM_001129846.1;CACNA1C,missense_variant,p.Arg1089Cys,ENST00000399649,NM_001129839.1;CACNA1C,missense_variant,p.Arg1089Cys,ENST00000399601,NM_001129843.1;CACNA1C,missense_variant,p.Arg1089Cys,ENST00000399644,NM_001129841.1;CACNA1C,missense_variant,p.Arg1089Cys,ENST00000399641,NM_001129840.1;CACNA1C,missense_variant,p.Arg1089Cys,ENST00000399597,NM_001129844.1,NM_001129842.1;CACNA1C-AS3,intron_variant,,ENST00000543559,;CACNA1C,upstream_gene_variant,,ENST00000496818,;	uc009zdu.1	c.3325C>T	3325/6655	2	2			c.3325C>T						12	SNP	c.(3325-3327)CGC>TGC	41	41			ovary(10)|central_nervous_system(1)	11	Broad	calcium channel, voltage-dependent, L type,		Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	2716205		0.542	ENSG00000151067	2491	g.chr12:2716205C>T	axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity							117.901226	KEEP	22	16	-1	16	19	22	16	-1	117.952412	16	19	0.529412	1	0	0	0	0	1	0	0	0	--	--		0	T			CACNA1C_uc009zdv.1_Missense_Mutation_p.R1086C|CACNA1C_uc001qkb.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkc.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qke.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkf.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qjz.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkd.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkg.2_Missense_Mutation_p.R1089C|CACNA1C_uc009zdw.1_Missense_Mutation_p.R1089C|CACNA1C_uc001qkh.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkl.2_Missense_Mutation_p.R1109C|CACNA1C_uc001qkn.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qko.2_Missense_Mutation_p.R1109C|CACNA1C_uc001qkp.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkr.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qku.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkq.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qks.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkt.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qka.1_Missense_Mutation_p.R624C|CACNA1C_uc001qki.1_Missense_Mutation_p.R825C|CACNA1C_uc001qkj.1_Missense_Mutation_p.R825C|CACNA1C_uc001qkk.1_Missense_Mutation_p.R825C|CACNA1C_uc001qkm.1_Missense_Mutation_p.R825C	68	GBM-06-0747-TP	p.R1109C	C	CATCCAACCCCGCAGCTGGGA	NM_199460	NP_955630	2716205	Q13936	CAC1C_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	27	3638	+	T	T			Missense_Mutation	1109			Extracellular (Potential).|III.|Dihydropyridine binding (By similarity).			
CACNA1C	0	broad.mit.edu	GRCh37	12	2675631	2675631	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000347598.4:c.1552C>T	p.Arg518Cys	p.R518C	ENST00000347598	NM_199460.2	518	Cgc/Tgc	0			1			T	R/C	uc009zdu.1	protein_coding	YES	CCDS44788.1			1552/6561						uncertain_significance			ovary(10)|central_nervous_system(1)	11	c.(1552-1554)CGC>TGC			Low_complexity_(Seg):seg,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF188,Prints_domain:PR01630	calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)			ENSP00000266376		Dec-49									rs786205748,COSM2203003,COSM2203001,COSM2203000,COSM2203002,COSM2203004,COSM2203005	Dec-49	.		ENST00000347598	Transcript	1		axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	ENSG00000151067	g.chr12:2675631C>T	1390			MODERATE		3.865	high	getma.org/?cm=msa&ty=f&p=CAC1C_HUMAN&rb=405&re=557&var=R518C	NA	getma.org/?cm=var&var=hg19,12,2675631,C,T&fts=all	R518C	--	--	1																																		CACNA1C_uc009zdv.1_Missense_Mutation_p.R515C|CACNA1C_uc001qkb.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkc.2_Missense_Mutation_p.R518C|CACNA1C_uc001qke.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkf.2_Missense_Mutation_p.R518C|CACNA1C_uc001qjz.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkd.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkg.2_Missense_Mutation_p.R518C|CACNA1C_uc009zdw.1_Missense_Mutation_p.R518C|CACNA1C_uc001qkh.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkl.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkn.2_Missense_Mutation_p.R518C|CACNA1C_uc001qko.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkp.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkr.2_Missense_Mutation_p.R518C|CACNA1C_uc001qku.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkq.2_Missense_Mutation_p.R518C|CACNA1C_uc001qks.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkt.2_Missense_Mutation_p.R518C|CACNA1C_uc001qka.1_Missense_Mutation_p.R53C|CACNA1C_uc001qki.1_Missense_Mutation_p.R254C|CACNA1C_uc001qkj.1_Missense_Mutation_p.R254C|CACNA1C_uc001qkk.1_Missense_Mutation_p.R254C|CACNA1C_uc001qkm.1_Missense_Mutation_p.R254C|CACNA1C_uc009zdy.1_Missense_Mutation_p.R183C|CACNA1C_uc001qkv.1_Missense_Mutation_p.R88C	1,1,1,1,1,1,1	1		probably_damaging(0.997)	p.R518C	NM_199460	NP_955630		deleterious(0)	0,1,1,1,1,1,1	CAC1C_HUMAN	CACNA1C	HGNC	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Q86XX0_HUMAN,O95234_HUMAN		12	1865	+			UPI0000E593E5	518			II.|Cytoplasmic (Potential).		SNV	CACNA1C,missense_variant,p.Arg518Cys,ENST00000399655,NM_001129834.1,NM_001129829.1,NM_000719.6;CACNA1C,missense_variant,p.Arg518Cys,ENST00000406454,;CACNA1C,missense_variant,p.Arg518Cys,ENST00000399634,NM_001167625.1;CACNA1C,missense_variant,p.Arg518Cys,ENST00000399617,NM_001167624.1;CACNA1C,missense_variant,p.Arg518Cys,ENST00000399603,NM_001167623.1;CACNA1C,missense_variant,p.Arg543Cys,ENST00000335762,;CACNA1C,missense_variant,p.Arg518Cys,ENST00000480911,;CACNA1C,missense_variant,p.Arg518Cys,ENST00000347598,NM_199460.2,NM_001129827.1;CACNA1C,missense_variant,p.Arg518Cys,ENST00000344100,;CACNA1C,missense_variant,p.Arg518Cys,ENST00000327702,NM_001129830.1;CACNA1C,missense_variant,p.Arg518Cys,ENST00000399638,NM_001129831.1;CACNA1C,missense_variant,p.Arg518Cys,ENST00000399606,NM_001129832.1;CACNA1C,missense_variant,p.Arg518Cys,ENST00000399637,NM_001129835.1;CACNA1C,missense_variant,p.Arg518Cys,ENST00000402845,NM_001129833.1;CACNA1C,missense_variant,p.Arg518Cys,ENST00000399621,;CACNA1C,missense_variant,p.Arg518Cys,ENST00000399629,NM_001129836.1;CACNA1C,missense_variant,p.Arg518Cys,ENST00000399595,NM_001129837.1;CACNA1C,missense_variant,p.Arg518Cys,ENST00000399591,NM_001129838.1,NM_001129846.1;CACNA1C,missense_variant,p.Arg518Cys,ENST00000399649,NM_001129839.1;CACNA1C,missense_variant,p.Arg518Cys,ENST00000399601,NM_001129843.1;CACNA1C,missense_variant,p.Arg518Cys,ENST00000399644,NM_001129841.1;CACNA1C,missense_variant,p.Arg518Cys,ENST00000399641,NM_001129840.1;CACNA1C,missense_variant,p.Arg518Cys,ENST00000399597,NM_001129844.1,NM_001129842.1;CACNA1C,non_coding_transcript_exon_variant,,ENST00000491104,;	uc009zdu.1	c.1552C>T	1552/6655	2	2			c.1552C>T						12	SNP	c.(1552-1554)CGC>TGC	29	29			ovary(10)|central_nervous_system(1)	11	Broad	calcium channel, voltage-dependent, L type,		Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	2675631		0.562	ENSG00000151067	2491	g.chr12:2675631C>T	axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity							14.009666	KEEP	3	3	-1	0	2	3	3	-1	14.421598	0	2	0.8	1	0	0	0	0	1	0	0	0	--	--		0	T			CACNA1C_uc009zdv.1_Missense_Mutation_p.R515C|CACNA1C_uc001qkb.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkc.2_Missense_Mutation_p.R518C|CACNA1C_uc001qke.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkf.2_Missense_Mutation_p.R518C|CACNA1C_uc001qjz.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkd.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkg.2_Missense_Mutation_p.R518C|CACNA1C_uc009zdw.1_Missense_Mutation_p.R518C|CACNA1C_uc001qkh.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkl.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkn.2_Missense_Mutation_p.R518C|CACNA1C_uc001qko.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkp.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkr.2_Missense_Mutation_p.R518C|CACNA1C_uc001qku.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkq.2_Missense_Mutation_p.R518C|CACNA1C_uc001qks.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkt.2_Missense_Mutation_p.R518C|CACNA1C_uc001qka.1_Missense_Mutation_p.R53C|CACNA1C_uc001qki.1_Missense_Mutation_p.R254C|CACNA1C_uc001qkj.1_Missense_Mutation_p.R254C|CACNA1C_uc001qkk.1_Missense_Mutation_p.R254C|CACNA1C_uc001qkm.1_Missense_Mutation_p.R254C|CACNA1C_uc009zdy.1_Missense_Mutation_p.R183C|CACNA1C_uc001qkv.1_Missense_Mutation_p.R88C	159	GBM-19-1390-TP	p.R518C	C	AAGGAAGTGCCGCGCCGCAGT	NM_199460	NP_955630	2675631	Q13936	CAC1C_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	12	1865	+	T	T			Missense_Mutation	518			II.|Cytoplasmic (Potential).			
CACNA1C	0	broad.mit.edu	GRCh37	12	2716164	2716164	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01	TCGA-27-2527-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000347598.4:c.3284C>T	p.Thr1095Met	p.T1095M	ENST00000347598	NM_199460.2	1095	aCg/aTg	0			1			T	T/M	uc009zdu.1	protein_coding	YES	CCDS44788.1			3284/6561									ovary(10)|central_nervous_system(1)	11	c.(3283-3285)ACG>ATG			hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF188,Pfam_domain:PF00520	calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)			ENSP00000266376		27/49	2.48E-05		0.000173			1.50E-05			rs766410481,COSM2203497,COSM2203495,COSM2203494,COSM2203496,COSM2203498,COSM2203499	27/49	.		ENST00000347598	Transcript	1		axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	ENSG00000151067	g.chr12:2716164C>T	1390			MODERATE		1.33	low	getma.org/?cm=msa&ty=f&p=CAC1C_HUMAN&rb=955&re=1185&var=T1095M	NA	getma.org/?cm=var&var=hg19,12,2716164,C,T&fts=all	T1095M	--	--	1																																		CACNA1C_uc009zdv.1_Missense_Mutation_p.T1072M|CACNA1C_uc001qkb.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkc.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qke.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkf.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qjz.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkd.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkg.2_Missense_Mutation_p.T1075M|CACNA1C_uc009zdw.1_Missense_Mutation_p.T1075M|CACNA1C_uc001qkh.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkl.2_Missense_Mutation_p.T1095M|CACNA1C_uc001qkn.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qko.2_Missense_Mutation_p.T1095M|CACNA1C_uc001qkp.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkr.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qku.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkq.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qks.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkt.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qka.1_Missense_Mutation_p.T610M|CACNA1C_uc001qki.1_Missense_Mutation_p.T811M|CACNA1C_uc001qkj.1_Missense_Mutation_p.T811M|CACNA1C_uc001qkk.1_Missense_Mutation_p.T811M|CACNA1C_uc001qkm.1_Missense_Mutation_p.T811M	0,1,1,1,1,1,1	1		benign(0.006)	p.T1095M	NM_199460	NP_955630		tolerated(0.15)	0,1,1,1,1,1,1	CAC1C_HUMAN	CACNA1C	HGNC	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Q86XX0_HUMAN,O95234_HUMAN		27	3597	+			UPI0000E593E5	1095			Extracellular (Potential).|III.		SNV	CACNA1C,missense_variant,p.Thr1075Met,ENST00000399655,NM_001129834.1,NM_001129829.1,NM_000719.6;CACNA1C,missense_variant,p.Thr1075Met,ENST00000399634,NM_001167625.1;CACNA1C,missense_variant,p.Thr1075Met,ENST00000406454,;CACNA1C,missense_variant,p.Thr1075Met,ENST00000399617,NM_001167624.1;CACNA1C,missense_variant,p.Thr1075Met,ENST00000399603,NM_001167623.1;CACNA1C,missense_variant,p.Thr1100Met,ENST00000335762,;CACNA1C,missense_variant,p.Thr1075Met,ENST00000480911,;CACNA1C,missense_variant,p.Thr1095Met,ENST00000347598,NM_199460.2,NM_001129827.1;CACNA1C,missense_variant,p.Thr1075Met,ENST00000344100,;CACNA1C,missense_variant,p.Thr1075Met,ENST00000327702,NM_001129830.1;CACNA1C,missense_variant,p.Thr1075Met,ENST00000399638,NM_001129831.1;CACNA1C,missense_variant,p.Thr1095Met,ENST00000399606,NM_001129832.1;CACNA1C,missense_variant,p.Thr1075Met,ENST00000399621,;CACNA1C,missense_variant,p.Thr1075Met,ENST00000399637,NM_001129835.1;CACNA1C,missense_variant,p.Thr1075Met,ENST00000402845,NM_001129833.1;CACNA1C,missense_variant,p.Thr1075Met,ENST00000399629,NM_001129836.1;CACNA1C,missense_variant,p.Thr1075Met,ENST00000399591,NM_001129838.1,NM_001129846.1;CACNA1C,missense_variant,p.Thr1075Met,ENST00000399595,NM_001129837.1;CACNA1C,missense_variant,p.Thr1075Met,ENST00000399649,NM_001129839.1;CACNA1C,missense_variant,p.Thr1075Met,ENST00000399641,NM_001129840.1;CACNA1C,missense_variant,p.Thr1075Met,ENST00000399597,NM_001129844.1,NM_001129842.1;CACNA1C,missense_variant,p.Thr1075Met,ENST00000399601,NM_001129843.1;CACNA1C,missense_variant,p.Thr1075Met,ENST00000399644,NM_001129841.1;CACNA1C-AS3,intron_variant,,ENST00000543559,;CACNA1C,upstream_gene_variant,,ENST00000496818,;	uc009zdu.1	c.3284C>T	3284/6655	2	2			c.3284C>T						12	SNP	c.(3283-3285)ACG>ATG	24	24			ovary(10)|central_nervous_system(1)	11	Broad	calcium channel, voltage-dependent, L type,		Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	2716164		0.557	ENSG00000151067	2491	g.chr12:2716164C>T	axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity							26.531081	KEEP	5	9	-1	37	38	5	9	-1	33.8692	37	38	0.175676	1	0	0	0	0	1	0	0	0	--	--		0	T			CACNA1C_uc009zdv.1_Missense_Mutation_p.T1072M|CACNA1C_uc001qkb.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkc.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qke.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkf.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qjz.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkd.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkg.2_Missense_Mutation_p.T1075M|CACNA1C_uc009zdw.1_Missense_Mutation_p.T1075M|CACNA1C_uc001qkh.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkl.2_Missense_Mutation_p.T1095M|CACNA1C_uc001qkn.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qko.2_Missense_Mutation_p.T1095M|CACNA1C_uc001qkp.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkr.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qku.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkq.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qks.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkt.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qka.1_Missense_Mutation_p.T610M|CACNA1C_uc001qki.1_Missense_Mutation_p.T811M|CACNA1C_uc001qkj.1_Missense_Mutation_p.T811M|CACNA1C_uc001qkk.1_Missense_Mutation_p.T811M|CACNA1C_uc001qkm.1_Missense_Mutation_p.T811M	204	GBM-27-2527-TP	p.T1095M	C	AACTACATCACGTACAAAGAC	NM_199460	NP_955630	2716164	Q13936	CAC1C_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	27	3597	+	T	T			Missense_Mutation	1095			Extracellular (Potential).|III.			
CACNA1C	0	broad.mit.edu	GRCh37	12	2602399	2602399	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-81-5910-01	TCGA-81-5910-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000347598.4:c.960G>A	p.Thr320=	p.T320=	ENST00000347598	NM_199460.2	320	acG/acA	0		A:0	1	A:0		A	T	uc009zdu.1	protein_coding	YES	CCDS44788.1			960/6561									ovary(10)|central_nervous_system(1)	11	c.(958-960)ACG>ACA			hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF188,Pfam_domain:PF00520	calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	A:0		ENSP00000266376	A:0	Jul-49	0.000223							0.00157	rs553958501,COSM3398632,COSM3398630,COSM3398629,COSM3398631,COSM3398633	Jul-49	common_variant		ENST00000347598	Transcript	1	A:0.0002	axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	ENSG00000151067	g.chr12:2602399G>A	1390			LOW								--	--	1																																		CACNA1C_uc009zdv.1_Silent_p.T317T|CACNA1C_uc001qkb.2_Silent_p.T320T|CACNA1C_uc001qkc.2_Silent_p.T320T|CACNA1C_uc001qke.2_Silent_p.T320T|CACNA1C_uc001qkf.2_Silent_p.T320T|CACNA1C_uc001qjz.2_Silent_p.T320T|CACNA1C_uc001qkd.2_Silent_p.T320T|CACNA1C_uc001qkg.2_Silent_p.T320T|CACNA1C_uc009zdw.1_Silent_p.T320T|CACNA1C_uc001qkh.2_Silent_p.T320T|CACNA1C_uc001qkl.2_Silent_p.T320T|CACNA1C_uc001qkn.2_Silent_p.T320T|CACNA1C_uc001qko.2_Silent_p.T320T|CACNA1C_uc001qkp.2_Silent_p.T320T|CACNA1C_uc001qkr.2_Silent_p.T320T|CACNA1C_uc001qku.2_Silent_p.T320T|CACNA1C_uc001qkq.2_Silent_p.T320T|CACNA1C_uc001qks.2_Silent_p.T320T|CACNA1C_uc001qkt.2_Silent_p.T320T|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_Silent_p.T56T|CACNA1C_uc001qkj.1_Silent_p.T56T|CACNA1C_uc001qkk.1_Silent_p.T56T|CACNA1C_uc001qkm.1_Silent_p.T56T	0,1,1,1,1,1	1			p.T320T	NM_199460	NP_955630	A:0.001		0,1,1,1,1,1	CAC1C_HUMAN	CACNA1C	HGNC	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Q86XX0_HUMAN,O95234_HUMAN		7	1273	+			UPI0000E593E5	320			I.|Extracellular (Potential).		SNV	CACNA1C,synonymous_variant,p.=,ENST00000399655,NM_001129834.1,NM_001129829.1,NM_000719.6;CACNA1C,synonymous_variant,p.=,ENST00000399634,NM_001167625.1;CACNA1C,synonymous_variant,p.=,ENST00000406454,;CACNA1C,synonymous_variant,p.=,ENST00000399617,NM_001167624.1;CACNA1C,synonymous_variant,p.=,ENST00000399603,NM_001167623.1;CACNA1C,synonymous_variant,p.=,ENST00000335762,;CACNA1C,synonymous_variant,p.=,ENST00000480911,;CACNA1C,synonymous_variant,p.=,ENST00000347598,NM_199460.2,NM_001129827.1;CACNA1C,synonymous_variant,p.=,ENST00000344100,;CACNA1C,synonymous_variant,p.=,ENST00000327702,NM_001129830.1;CACNA1C,synonymous_variant,p.=,ENST00000399638,NM_001129831.1;CACNA1C,synonymous_variant,p.=,ENST00000399606,NM_001129832.1;CACNA1C,synonymous_variant,p.=,ENST00000399621,;CACNA1C,synonymous_variant,p.=,ENST00000402845,NM_001129833.1;CACNA1C,synonymous_variant,p.=,ENST00000399637,NM_001129835.1;CACNA1C,synonymous_variant,p.=,ENST00000399629,NM_001129836.1;CACNA1C,synonymous_variant,p.=,ENST00000399591,NM_001129838.1,NM_001129846.1;CACNA1C,synonymous_variant,p.=,ENST00000399595,NM_001129837.1;CACNA1C,synonymous_variant,p.=,ENST00000399649,NM_001129839.1;CACNA1C,synonymous_variant,p.=,ENST00000399597,NM_001129844.1,NM_001129842.1;CACNA1C,synonymous_variant,p.=,ENST00000399641,NM_001129840.1;CACNA1C,synonymous_variant,p.=,ENST00000399644,NM_001129841.1;CACNA1C,synonymous_variant,p.=,ENST00000399601,NM_001129843.1;	uc009zdu.1	c.960G>A	960/6655	2	2			c.960G>A						12	SNP	c.(958-960)ACG>ACA	32	32			ovary(10)|central_nervous_system(1)	11	Broad	calcium channel, voltage-dependent, L type,		Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	2602399		0.607	ENSG00000151067	2491	g.chr12:2602399G>A	axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity							112.071575	KEEP	15	27	-1	32	37	15	27	-1	112.691555	32	37	0.413043	1	0	0	0	0	0	0	1	0	--	--		0	A			CACNA1C_uc009zdv.1_Silent_p.T317T|CACNA1C_uc001qkb.2_Silent_p.T320T|CACNA1C_uc001qkc.2_Silent_p.T320T|CACNA1C_uc001qke.2_Silent_p.T320T|CACNA1C_uc001qkf.2_Silent_p.T320T|CACNA1C_uc001qjz.2_Silent_p.T320T|CACNA1C_uc001qkd.2_Silent_p.T320T|CACNA1C_uc001qkg.2_Silent_p.T320T|CACNA1C_uc009zdw.1_Silent_p.T320T|CACNA1C_uc001qkh.2_Silent_p.T320T|CACNA1C_uc001qkl.2_Silent_p.T320T|CACNA1C_uc001qkn.2_Silent_p.T320T|CACNA1C_uc001qko.2_Silent_p.T320T|CACNA1C_uc001qkp.2_Silent_p.T320T|CACNA1C_uc001qkr.2_Silent_p.T320T|CACNA1C_uc001qku.2_Silent_p.T320T|CACNA1C_uc001qkq.2_Silent_p.T320T|CACNA1C_uc001qks.2_Silent_p.T320T|CACNA1C_uc001qkt.2_Silent_p.T320T|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_Silent_p.T56T|CACNA1C_uc001qkj.1_Silent_p.T56T|CACNA1C_uc001qkk.1_Silent_p.T56T|CACNA1C_uc001qkm.1_Silent_p.T56T	289	GBM-81-5910-TP	p.T320T	G	CGCTGGAAACGGGCCACGGGC	NM_199460	NP_955630	2602399	Q13936	CAC1C_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	7	1273	+	A	A			Silent	320			I.|Extracellular (Potential).			
CACNA1C	775		GRCh37	12	2795380	2795380	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000347598.4:c.5873G>A	p.Arg1958Gln	p.R1958Q	ENST00000347598	NM_199460.2	1958	cGa/cAa	0																																																																																																																																																																																																																																												
CACNA1D	776	broad.mit.edu	GRCh37	3	53756373	53756373	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288139.4:c.1598G>A	p.Arg533His	p.R533H	ENST00000288139	NM_000720.3	533	cGc/cAc	0			1			A	R/H	uc003dgv.3	protein_coding		CCDS46848.1			1538/6486									ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11	c.(1537-1539)CGC>CAC			Prints_domain:PR01630,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF139,Low_complexity_(Seg):seg	calcium channel, voltage-dependent, L type,	Verapamil(DB00661)			ENSP00000288133		Dec-48									COSM1047286,COSM1593950	Dec-48	.		ENST00000350061	Transcript	1		axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	ENSG00000157388	g.chr3:53756373G>A	1391			MODERATE		3.515	high	getma.org/?cm=msa&ty=f&p=CAC1D_HUMAN&rb=406&re=556&var=R513H	NA	getma.org/?cm=var&var=hg19,3,53756373,G,A&fts=all	R513H	--	--	1																																		CACNA1D_uc003dgu.3_Missense_Mutation_p.R533H|CACNA1D_uc003dgy.3_Missense_Mutation_p.R513H|CACNA1D_uc003dgw.3_Missense_Mutation_p.R180H	1,1			probably_damaging(1)	p.R513H	NM_001128840	NP_001122312		deleterious(0.01)	1,1	CAC1D_HUMAN	CACNA1D	HGNC	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)			12	1701	+			UPI000013DEF4	513			Cytoplasmic (Potential).|II.		SNV	CACNA1D,missense_variant,p.Arg533His,ENST00000288139,NM_000720.3;CACNA1D,missense_variant,p.Arg513His,ENST00000350061,NM_001128840.2;CACNA1D,missense_variant,p.Arg513His,ENST00000422281,NM_001128839.2;CACNA1D,missense_variant,p.Arg206His,ENST00000481478,;CACNA1D,missense_variant,p.Arg227His,ENST00000481085,;	uc003dgv.3	c.1538G>A	2049/7636	2	2			c.1538G>A						3	SNP	c.(1537-1539)CGC>CAC	20	20			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11	Broad	calcium channel, voltage-dependent, L type,		Verapamil(DB00661)	53756373		0.453	ENSG00000157388	2492	g.chr3:53756373G>A	axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity							115.845467	KEEP	23	20	-1	26	34	23	20	-1	116.097128	26	34	0.44186	1	0	0	0	0	1	0	0	0	--	--		0	A			CACNA1D_uc003dgu.3_Missense_Mutation_p.R533H|CACNA1D_uc003dgy.3_Missense_Mutation_p.R513H|CACNA1D_uc003dgw.3_Missense_Mutation_p.R180H	12	GBM-06-0125-TP	p.R513H	G	CGATTCAATCGCAGAAGATGT	NM_001128840	NP_001122312	53756373	Q01668	CAC1D_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	12	1701	+	A	A			Missense_Mutation	513			Cytoplasmic (Potential).|II.			
CACNA1D	0	broad.mit.edu	GRCh37	3	53757913	53757913	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-5958-01	TCGA-19-5958-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000350061.5:c.1987A>G	p.Ile663Val	p.I663V	ENST00000350061	NM_001128840.2	663	Atc/Gtc	0			1			G	I/V	uc003dgv.3	protein_coding		CCDS46848.1			1987/6486									ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11	c.(1987-1989)ATC>GTC			Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF139,Low_complexity_(Seg):seg,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix	calcium channel, voltage-dependent, L type,	Verapamil(DB00661)			ENSP00000288133		14/48									COSM2156818,COSM2156819	14/48	.		ENST00000350061	Transcript	1		axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	ENSG00000157388	g.chr3:53757913A>G	1391			MODERATE		2.095	medium	getma.org/?cm=msa&ty=f&p=CAC1D_HUMAN&rb=557&re=751&var=I663V	getma.org/pdb.php?prot=CAC1D_HUMAN&from=557&to=751&var=I663V	getma.org/?cm=var&var=hg19,3,53757913,A,G&fts=all	I663V	--	--	1																																		CACNA1D_uc003dgu.3_Missense_Mutation_p.I683V|CACNA1D_uc003dgy.3_Missense_Mutation_p.I663V|CACNA1D_uc003dgw.3_Missense_Mutation_p.I330V	1,1			possibly_damaging(0.784)	p.I663V	NM_001128840	NP_001122312		deleterious(0.04)	1,1	CAC1D_HUMAN	CACNA1D	HGNC	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)			14	2150	+			UPI000013DEF4	663			Helical; Name=S5 of repeat II; (Potential).|II.		SNV	CACNA1D,missense_variant,p.Ile683Val,ENST00000288139,NM_000720.3;CACNA1D,missense_variant,p.Ile663Val,ENST00000350061,NM_001128840.2;CACNA1D,missense_variant,p.Ile663Val,ENST00000422281,NM_001128839.2;CACNA1D,missense_variant,p.Ile356Val,ENST00000481478,;CACNA1D,downstream_gene_variant,,ENST00000481085,;	uc003dgv.3	c.1987A>G	2498/7636	3	3			c.1987A>G						3	SNP	c.(1987-1989)ATC>GTC	15	15			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11	Broad	calcium channel, voltage-dependent, L type,		Verapamil(DB00661)	53757913		0.438	ENSG00000157388	2492	g.chr3:53757913A>G	axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity							137.544298	KEEP	23	27	-1	44	65	23	27	-1	141.47096	44	65	0.326531	1	0	0	0	0	1	0	0	0	--	--		0	G			CACNA1D_uc003dgu.3_Missense_Mutation_p.I683V|CACNA1D_uc003dgy.3_Missense_Mutation_p.I663V|CACNA1D_uc003dgw.3_Missense_Mutation_p.I330V	176	GBM-19-5958-TP	p.I663V	A	CTTCATTATCATCTTTTCCTT	NM_001128840	NP_001122312	53757913	Q01668	CAC1D_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	14	2150	+	G	G			Missense_Mutation	663			Helical; Name=S5 of repeat II; (Potential).|II.			
CACNA1D	0	broad.mit.edu	GRCh37	3	53837549	53837549	+	stop_gained	Nonsense_Mutation	SNP	T	T	G			TCGA-28-5209-01	TCGA-28-5209-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000350061.5:c.5535T>G	p.Tyr1845Ter	p.Y1845*	ENST00000350061	NM_001128840.2	1845	taT/taG	0			1			G	Y/*	uc003dgv.3	protein_coding		CCDS46848.1			5535/6486									ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11	c.(5533-5535)TAT>TAG			hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF139	calcium channel, voltage-dependent, L type,	Verapamil(DB00661)			ENSP00000288133		44/48									COSM3408818,COSM3408819	44/48	.		ENST00000350061	Transcript	1		axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	ENSG00000157388	g.chr3:53837549T>G	1391			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,3,53837549,T,G&fts=all	Y1845*	--	--	1																																		CACNA1D_uc003dgu.3_Nonsense_Mutation_p.Y1865*|CACNA1D_uc003dgy.3_Nonsense_Mutation_p.Y1821*|CACNA1D_uc003dgw.3_Nonsense_Mutation_p.Y1512*|CACNA1D_uc011bes.1_RNA	1,1				p.Y1845*	NM_001128840	NP_001122312			1,1	CAC1D_HUMAN	CACNA1D	HGNC	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)			44	5698	+			UPI000013DEF4	1845			Cytoplasmic (Potential).		SNV	CACNA1D,stop_gained,p.Tyr1865Ter,ENST00000288139,NM_000720.3;CACNA1D,stop_gained,p.Tyr1845Ter,ENST00000350061,NM_001128840.2;CACNA1D,stop_gained,p.Tyr1821Ter,ENST00000422281,NM_001128839.2;CACNA1D,stop_gained,p.Tyr1538Ter,ENST00000481478,;CACNA1D,stop_gained,p.Tyr224Ter,ENST00000544977,;	uc003dgv.3	c.5535T>G	6046/7636	5	3			c.5535T>G						3	SNP	c.(5533-5535)TAT>TAG	1	1			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11	Broad	calcium channel, voltage-dependent, L type,		Verapamil(DB00661)	53837549		0.597	ENSG00000157388	2492	g.chr3:53837549T>G	axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity							644.778148	KEEP	90	119	-1	100	124	90	119	-1	644.906378	100	124	0.480106	1	0	0	0	0	0	1	0	0	--	--		0	G			CACNA1D_uc003dgu.3_Nonsense_Mutation_p.Y1865*|CACNA1D_uc003dgy.3_Nonsense_Mutation_p.Y1821*|CACNA1D_uc003dgw.3_Nonsense_Mutation_p.Y1512*|CACNA1D_uc011bes.1_RNA	218	GBM-28-5209-TP	p.Y1845*	T	AGCAGGAGTATTTCAGTAGTG	NM_001128840	NP_001122312	53837549	Q01668	CAC1D_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	44	5698	+	G	G			Nonsense_Mutation	1845			Cytoplasmic (Potential).			
CACNA1D	776		GRCh37	3	53769408	53769408	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000288139.4:c.2689G>A	p.Val897Ile	p.V897I	ENST00000288139	NM_000720.3	897	Gta/Ata	0																																																																																																																																																																																																																																												
CACNA1E	777	broad.mit.edu	GRCh37	1	181700365	181700365	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0130-01	TCGA-06-0130-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367573.2:c.2295C>A	p.His765Gln	p.H765Q	ENST00000367573	NM_001205293.1	765	caC/caA	0			1			A	H/Q	uc001gow.2	protein_coding	YES	CCDS55664.1			2295/6942									ovary(3)|central_nervous_system(2)|pancreas(1)	6	c.(2293-2295)CAC>CAA			hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF57,Low_complexity_(Seg):seg	calcium channel, voltage-dependent, R type,				ENSP00000356545		19/48									COSM3400070,COSM3400071,COSM3400069	19/48	.		ENST00000367573	Transcript			energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	ENSG00000198216	g.chr1:181700365C>A	1392			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CAC1E_HUMAN&rb=703&re=902&var=H765Q	NA	getma.org/?cm=var&var=hg19,1,181700365,C,A&fts=all	H765Q	--	--	1																																		CACNA1E_uc009wxs.2_Intron|CACNA1E_uc001gox.1_5'Flank|CACNA1E_uc009wxt.2_5'Flank	1,1,1	1		benign(0.227)	p.H765Q	NM_000721	NP_000712		tolerated(0.44)	1,1,1	CAC1E_HUMAN	CACNA1E	HGNC	Q15878	CAC1E_HUMAN			Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN		19	2460	+			UPI00004588C2	765			Cytoplasmic (Potential).		SNV	CACNA1E,missense_variant,p.His716Gln,ENST00000357570,;CACNA1E,missense_variant,p.His765Gln,ENST00000367570,NM_000721.3;CACNA1E,missense_variant,p.His372Gln,ENST00000367567,;CACNA1E,missense_variant,p.His765Gln,ENST00000367573,NM_001205293.1;CACNA1E,intron_variant,,ENST00000526775,NM_001205294.1;CACNA1E,intron_variant,,ENST00000358338,;CACNA1E,intron_variant,,ENST00000360108,;	uc001gow.2	c.2295C>A	2295/7067	1	1			c.2295C>A						1	SNP	c.(2293-2295)CAC>CAA	64	64			ovary(3)|central_nervous_system(2)|pancreas(1)	6	Broad	calcium channel, voltage-dependent, R type,			181700365		0.522	ENSG00000198216	2493	g.chr1:181700365C>A	energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity							18.345563	KEEP	5	5	0.5	34	17	5	5	0.5	23.810262	34	17	0.169811	1	0	0	0	0	1	0	0	0	--	--		0	A			CACNA1E_uc009wxs.2_Intron|CACNA1E_uc001gox.1_5'Flank|CACNA1E_uc009wxt.2_5'Flank	16	GBM-06-0130-TP	p.H765Q	C	GCAGCAGCCACCTGTATGTGT	NM_000721	NP_000712	181700365	Q15878	CAC1E_HUMAN	0			19	2460	+	A	A			Missense_Mutation	765			Cytoplasmic (Potential).			
CACNA1E	0	broad.mit.edu	GRCh37	1	181689358	181689358	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01	TCGA-14-1450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367573.2:c.1768C>T	p.Arg590Trp	p.R590W	ENST00000367573	NM_001205293.1	590	Cgg/Tgg	0			1			T	R/W	uc001gow.2	protein_coding	YES	CCDS55664.1			1768/6942									ovary(3)|central_nervous_system(2)|pancreas(1)	6	c.(1768-1770)CGG>TGG			Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF57,Superfamily_domains:SSF81324	calcium channel, voltage-dependent, R type,				ENSP00000356545		14/48	8.27E-06					1.50E-05			rs760975849,COSM166472,COSM3400067,COSM1336830	14/48	.		ENST00000367573	Transcript			energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	ENSG00000198216	g.chr1:181689358C>T	1392			MODERATE		4.09	high	getma.org/?cm=msa&ty=f&p=CAC1E_HUMAN&rb=510&re=702&var=R590W	getma.org/pdb.php?prot=CAC1E_HUMAN&from=510&to=702&var=R590W	getma.org/?cm=var&var=hg19,1,181689358,C,T&fts=all	R590W	--	--	1																																		CACNA1E_uc009wxs.2_Missense_Mutation_p.R497W	0,1,1,1	1		possibly_damaging(0.898)	p.R590W	NM_000721	NP_000712		deleterious(0)	0,1,1,1	CAC1E_HUMAN	CACNA1E	HGNC	Q15878	CAC1E_HUMAN			Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN		14	1933	+			UPI00004588C2	590			Cytoplasmic (Potential).|II.		SNV	CACNA1E,missense_variant,p.Arg590Trp,ENST00000526775,NM_001205294.1;CACNA1E,missense_variant,p.Arg541Trp,ENST00000357570,;CACNA1E,missense_variant,p.Arg590Trp,ENST00000367570,NM_000721.3;CACNA1E,missense_variant,p.Arg197Trp,ENST00000367567,;CACNA1E,missense_variant,p.Arg541Trp,ENST00000358338,;CACNA1E,missense_variant,p.Arg590Trp,ENST00000367573,NM_001205293.1;CACNA1E,missense_variant,p.Arg590Trp,ENST00000360108,;CACNA1E,downstream_gene_variant,,ENST00000524607,;	uc001gow.2	c.1768C>T	1768/7067	2	2			c.1768C>T						1	SNP	c.(1768-1770)CGG>TGG	36	36			ovary(3)|central_nervous_system(2)|pancreas(1)	6	Broad	calcium channel, voltage-dependent, R type,			181689358		0.478	ENSG00000198216	2493	g.chr1:181689358C>T	energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity							51.375905	KEEP	17	8	-1	28	32	17	8	-1	54.157843	28	32	0.291667	1	0	0	0	0	1	0	0	0	--	--		0	T			CACNA1E_uc009wxs.2_Missense_Mutation_p.R497W	145	GBM-14-1450-TP	p.R590W	C	GGCTTCCCTACGGAATTTGGT	NM_000721	NP_000712	181689358	Q15878	CAC1E_HUMAN	0			14	1933	+	T	T			Missense_Mutation	590			Cytoplasmic (Potential).|II.			
CACNA1E	0	broad.mit.edu	GRCh37	1	181479699	181479699	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-16-1045-01	TCGA-16-1045-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367573.2:c.357delC	p.Met120CysfsTer67	p.M120Cfs*67	ENST00000367573	NM_001205293.1	118	aCc/ac	0			1			-	T/X	uc001gow.2	protein_coding	YES	CCDS55664.1			353/6942									ovary(3)|central_nervous_system(2)|pancreas(1)	6	c.(352-354)ACCfs			Gene3D:1.20.120.350,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF57,Superfamily_domains:SSF81324	calcium channel, voltage-dependent, R type,				ENSP00000356545		Feb-48										Feb-48	.		ENST00000367573	Transcript			energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	ENSG00000198216	g.chr1:181479699delC	1392	4		HIGH								--	--	1																																		CACNA1E_uc009wxr.2_Frame_Shift_Del_p.T25fs|CACNA1E_uc009wxs.2_Frame_Shift_Del_p.T25fs		1			p.T118fs	NM_000721	NP_000712				CAC1E_HUMAN	CACNA1E	HGNC	Q15878	CAC1E_HUMAN			Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN		2	518	+			UPI00004588C2	118			I.|Extracellular (Potential).		deletion	CACNA1E,frameshift_variant,p.Met120CysfsTer67,ENST00000526775,NM_001205294.1;CACNA1E,frameshift_variant,p.Met71CysfsTer67,ENST00000357570,;CACNA1E,frameshift_variant,p.Met120CysfsTer67,ENST00000367570,NM_000721.3;CACNA1E,frameshift_variant,p.Met71CysfsTer67,ENST00000358338,;CACNA1E,frameshift_variant,p.Met120CysfsTer67,ENST00000367573,NM_001205293.1;CACNA1E,frameshift_variant,p.Met120CysfsTer67,ENST00000360108,;CACNA1E,frameshift_variant,p.Met120CysfsTer67,ENST00000524607,;CACNA1E,5_prime_UTR_variant,,ENST00000367567,;CACNA1E,non_coding_transcript_exon_variant,,ENST00000533229,;	uc001gow.2	c.353delC	353/7067	5	5			c.353delC						1	DEL	c.(352-354)ACCfs	45	45			ovary(3)|central_nervous_system(2)|pancreas(1)	6	Broad	calcium channel, voltage-dependent, R type,			181479699		0.527	ENSG00000198216	2493	g.chr1:181479699delC	energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity																				0.22	1	1	0	1	0	0	0	0	0	--	--		0	-			CACNA1E_uc009wxr.2_Frame_Shift_Del_p.T25fs|CACNA1E_uc009wxs.2_Frame_Shift_Del_p.T25fs	157	GBM-16-1045-TP	p.T118fs	C	GATGACAAGACCCCCATGTCC	NM_000721	NP_000712	181479699	Q15878	CAC1E_HUMAN	0			2	518	+	-	-			Frame_Shift_Del	118			I.|Extracellular (Potential).			
CACNA1E	0	broad.mit.edu	GRCh37	1	181693656	181693656	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367573.2:c.2125G>A	p.Ala709Thr	p.A709T	ENST00000367573	NM_001205293.1	709	Gcc/Acc	0			1			A	A/T	uc001gow.2	protein_coding	YES	CCDS55664.1			2125/6942									ovary(3)|central_nervous_system(2)|pancreas(1)	6	c.(2125-2127)GCC>ACC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF57	calcium channel, voltage-dependent, R type,				ENSP00000356545		17/48	8.27E-06						0.00133		rs777063356,COSM2096575,COSM3400068,COSM2096574	17/48	.		ENST00000367573	Transcript			energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	ENSG00000198216	g.chr1:181693656G>A	1392			MODERATE		1.385	low	getma.org/?cm=msa&ty=f&p=CAC1E_HUMAN&rb=703&re=902&var=A709T	NA	getma.org/?cm=var&var=hg19,1,181693656,G,A&fts=all	A709T	--	--	1																																		CACNA1E_uc009wxs.2_Missense_Mutation_p.A616T	0,1,1,1	1		benign(0.141)	p.A709T	NM_000721	NP_000712		deleterious(0)	0,1,1,1	CAC1E_HUMAN	CACNA1E	HGNC	Q15878	CAC1E_HUMAN			Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN		17	2290	+			UPI00004588C2	709			Cytoplasmic (Potential).		SNV	CACNA1E,missense_variant,p.Ala709Thr,ENST00000526775,NM_001205294.1;CACNA1E,missense_variant,p.Ala660Thr,ENST00000357570,;CACNA1E,missense_variant,p.Ala709Thr,ENST00000367570,NM_000721.3;CACNA1E,missense_variant,p.Ala316Thr,ENST00000367567,;CACNA1E,missense_variant,p.Ala660Thr,ENST00000358338,;CACNA1E,missense_variant,p.Ala709Thr,ENST00000367573,NM_001205293.1;CACNA1E,missense_variant,p.Ala709Thr,ENST00000360108,;	uc001gow.2	c.2125G>A	2125/7067	1	1			c.2125G>A						1	SNP	c.(2125-2127)GCC>ACC	50	50			ovary(3)|central_nervous_system(2)|pancreas(1)	6	Broad	calcium channel, voltage-dependent, R type,			181693656		0.463	ENSG00000198216	2493	g.chr1:181693656G>A	energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity							19.821592	KEEP	3	4	-1	6	6	3	4	-1	19.93721	6	6	0.411765	1	0	0	0	0	1	0	0	0	--	--		0	A			CACNA1E_uc009wxs.2_Missense_Mutation_p.A616T	159	GBM-19-1390-TP	p.A709T	G	TCTCGCCAACGCCCAGGAACT	NM_000721	NP_000712	181693656	Q15878	CAC1E_HUMAN	0			17	2290	+	A	A			Missense_Mutation	709			Cytoplasmic (Potential).			
CACNA1E	0	broad.mit.edu	GRCh37	1	181680102	181680103	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	-			TCGA-26-1439-01	TCGA-26-1439-01	AG	AG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367573.2:c.1080_1081delAG	p.Arg360SerfsTer17	p.R360Sfs*17	ENST00000367573	NM_001205293.1	356	aaAGag/aaag	0	-:0.0439		1			-	KE/KX	uc001gow.2	protein_coding	YES	CCDS55664.1			1068-1069/6942									ovary(3)|central_nervous_system(2)|pancreas(1)	6	c.(1066-1071)AAAGAGfs			Prints_domain:PR00167,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF57,Superfamily_domains:SSF81324	calcium channel, voltage-dependent, R type,			-:0.0377	ENSP00000356545		Aug-48	0.013	0.00712	0.00731	0.00806	0.00198	0.00872	0.0175	0.0301	rs147596634,COSM391921,COSM1336823	Aug-48	common_variant		ENST00000367573	Transcript			energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	ENSG00000198216	g.chr1:181680102_181680103delAG	1392	12		HIGH								--	--	1																																		CACNA1E_uc009wxs.2_Frame_Shift_Del_p.K263fs	0,1,1	1			p.K356fs	NM_000721	NP_000712			0,1,1	CAC1E_HUMAN	CACNA1E	HGNC	Q15878	CAC1E_HUMAN			Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN		8	1233_1234	+			UPI00004588C2	356_357			Cytoplasmic (Potential).		deletion	CACNA1E,frameshift_variant,p.Arg360SerfsTer17,ENST00000526775,NM_001205294.1;CACNA1E,frameshift_variant,p.Arg311SerfsTer17,ENST00000357570,;CACNA1E,frameshift_variant,p.Arg360SerfsTer17,ENST00000367570,NM_000721.3;CACNA1E,frameshift_variant,p.Arg311SerfsTer17,ENST00000358338,;CACNA1E,frameshift_variant,p.Arg360SerfsTer17,ENST00000367573,NM_001205293.1;CACNA1E,frameshift_variant,p.Arg360SerfsTer17,ENST00000360108,;CACNA1E,frameshift_variant,p.Arg360SerfsTer17,ENST00000524607,;CACNA1E,5_prime_UTR_variant,,ENST00000367567,;	uc001gow.2	c.1068_1069delAG	1068-1069/7067	5	5			c.1068_1069delAG						1	DEL	c.(1066-1071)AAAGAGfs	50	50			ovary(3)|central_nervous_system(2)|pancreas(1)	6	Broad	calcium channel, voltage-dependent, R type,			181680103		0.51	ENSG00000198216	2493	g.chr1:181680102_181680103delAG	energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity																				0.03	1	1	0	1	0	0	0	0	0	--	--		0	-			CACNA1E_uc009wxs.2_Frame_Shift_Del_p.K263fs	179	GBM-26-1439-TP	p.K356fs	AG	AATTTGCCAAAGAGAGAGAGAG	NM_000721	NP_000712	181680102	Q15878	CAC1E_HUMAN	0			8	1233_1234	+	-	-			Frame_Shift_Del	356_357			Cytoplasmic (Potential).			
CACNA1F	778	broad.mit.edu	GRCh37	X	49077514	49077514	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0213-01	TCGA-06-0213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376265.2:c.2347C>A	p.Pro783Thr	p.P783T	ENST00000376265	NM_005183.2	783	Cca/Aca	0			1			T	P/T	uc004dnb.2	protein_coding	YES	CCDS35253.1			2347/5934									breast(3)|ovary(1)|kidney(1)|skin(1)	6	c.(2347-2349)CCA>ACA			hmmpanther:PTHR10037:SF184,hmmpanther:PTHR10037	calcium channel, voltage-dependent, L type,	Verapamil(DB00661)			ENSP00000365441		18/48									COSM3406447	18/48	.		ENST00000376265	Transcript	1		axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	ENSG00000102001	g.chrX:49077514G>T	1393			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=CAC1F_HUMAN&rb=758&re=905&var=P783T	NA	getma.org/?cm=var&var=hg19,X,49077514,G,T&fts=all	P783T	--	--	1																																		CACNA1F_uc010nip.2_Missense_Mutation_p.P772T	1	1		benign(0.002)	p.P783T	NM_005183	NP_005174		tolerated(0.24)	1	CAC1F_HUMAN	CACNA1F	HGNC	O60840	CAC1F_HUMAN					18	2409	-			UPI0000072854	783			Cytoplasmic (Potential).		SNV	CACNA1F,missense_variant,p.Pro783Thr,ENST00000376265,NM_005183.2;CACNA1F,missense_variant,p.Pro772Thr,ENST00000323022,NM_001256789.1;CACNA1F,missense_variant,p.Pro718Thr,ENST00000376251,NM_001256790.1;CACNA1F,downstream_gene_variant,,ENST00000480889,;	uc004dnb.2	c.2347C>A	2409/6070	2	2			c.2347C>A						23	SNP	c.(2347-2349)CCA>ACA	41	41			breast(3)|ovary(1)|kidney(1)|skin(1)	6	Broad	calcium channel, voltage-dependent, L type,		Verapamil(DB00661)	49077514		0.498	ENSG00000102001	2494	g.chrX:49077514G>T	axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			279			279	-3.991768	KEEP	2	3	0.4	40	31	2	3	0.4	8.176527	40	31	0.064516	1	0	0	0	0	1	0	0	0	--	--		0	T			CACNA1F_uc010nip.2_Missense_Mutation_p.P772T	49	GBM-06-0213-TP	p.P783T	G	TTCTCCTGTGGGAGATCCTTC	NM_005183	NP_005174	49077514	O60840	CAC1F_HUMAN	0			18	2409	-	T	T			Missense_Mutation	783			Cytoplasmic (Potential).			
CACNA1F	0	broad.mit.edu	GRCh37	X	49065814	49065814	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-76-4934-01	TCGA-76-4934-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376265.2:c.4894C>A	p.Arg1632=	p.R1632=	ENST00000376265	NM_005183.2	1632	Cgg/Agg	0			1			T	R	uc004dnb.2	protein_coding	YES	CCDS35253.1			4894/5934									breast(3)|ovary(1)|kidney(1)|skin(1)	6	c.(4894-4896)CGG>AGG			hmmpanther:PTHR10037:SF184,hmmpanther:PTHR10037	calcium channel, voltage-dependent, L type,	Verapamil(DB00661)			ENSP00000365441		42/48									COSM3406446	42/48	.		ENST00000376265	Transcript	1		axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	ENSG00000102001	g.chrX:49065814G>T	1393			LOW								--	--	1																																		CACNA1F_uc010nip.2_Silent_p.R1621R	1	1			p.R1632R	NM_005183	NP_005174			1	CAC1F_HUMAN	CACNA1F	HGNC	O60840	CAC1F_HUMAN					42	4956	-			UPI0000072854	1632			Cytoplasmic (Potential).		SNV	CACNA1F,synonymous_variant,p.=,ENST00000376265,NM_005183.2;CACNA1F,synonymous_variant,p.=,ENST00000323022,NM_001256789.1;CACNA1F,synonymous_variant,p.=,ENST00000376251,NM_001256790.1;CACNA1F,synonymous_variant,p.=,ENST00000486943,;CACNA1F,downstream_gene_variant,,ENST00000481035,;	uc004dnb.2	c.4894C>A	4956/6070	2	2			c.4894C>A						23	SNP	c.(4894-4896)CGG>AGG	36	36			breast(3)|ovary(1)|kidney(1)|skin(1)	6	Broad	calcium channel, voltage-dependent, L type,		Verapamil(DB00661)	49065814		0.423	ENSG00000102001	2494	g.chrX:49065814G>T	axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			279			279	-6.518951	KEEP	1	3	0.25	45	31	1	3	0.25	7.195748	45	31	0.047619	1	0	0	0	0	0	0	1	0	--	--		0	T			CACNA1F_uc010nip.2_Silent_p.R1621R	272	GBM-76-4934-TP	p.R1632R	G	AGGGCCTGCCGCATCTCAGGA	NM_005183	NP_005174	49065814	O60840	CAC1F_HUMAN	0			42	4956	-	T	T			Silent	1632			Cytoplasmic (Potential).			
CACNA1G	8913	broad.mit.edu	GRCh37	17	48697121	48697121	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0168-01	TCGA-06-0168-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359106.5:c.5859G>A	p.Leu1953=	p.L1953=	ENST00000359106	NM_018896.4	1953	ctG/ctA	0			1			A	L	uc002irk.1	protein_coding	YES	CCDS45730.1			5859/7134									breast(1)	1	c.(5857-5859)CTG>CTA			hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF137	voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)			ENSP00000352011		34/38									COSM2150225,COSM2150224,COSM2150223	34/38	.		ENST00000359106	Transcript			axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	ENSG00000006283	g.chr17:48697121G>A	1394			LOW								--	--	1																																		CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Intron|CACNA1G_uc002irm.1_Silent_p.L1919L|CACNA1G_uc002irn.1_Intron|CACNA1G_uc002iro.1_Intron|CACNA1G_uc002irp.1_Silent_p.L1953L|CACNA1G_uc002irq.1_Silent_p.L1930L|CACNA1G_uc002irr.1_Intron|CACNA1G_uc002irs.1_Silent_p.L1942L|CACNA1G_uc002irt.1_Intron|CACNA1G_uc002irv.1_Intron|CACNA1G_uc002irw.1_Intron|CACNA1G_uc002iru.1_Silent_p.L1919L|CACNA1G_uc002irx.1_Intron|CACNA1G_uc002iry.1_Intron|CACNA1G_uc002irz.1_Intron|CACNA1G_uc002isa.1_Intron|CACNA1G_uc002isb.1_Intron|CACNA1G_uc002isc.1_Silent_p.L1855L|CACNA1G_uc002isd.1_Intron|CACNA1G_uc002ise.1_Silent_p.L1821L|CACNA1G_uc002isf.1_Silent_p.L1848L|CACNA1G_uc002isg.1_Intron|CACNA1G_uc002ish.1_Intron|CACNA1G_uc002isi.1_Intron	1,1,1	1			p.L1953L	NM_018896	NP_061496			1,1,1	CAC1G_HUMAN	CACNA1G	HGNC	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)				34	6231	+	Breast(11;6.7e-17)		UPI000012727A	1953			Cytoplasmic (Potential).		SNV	CACNA1G,synonymous_variant,p.=,ENST00000354983,NM_198396.2;CACNA1G,synonymous_variant,p.=,ENST00000359106,NM_018896.4;CACNA1G,synonymous_variant,p.=,ENST00000507336,NM_198377.2;CACNA1G,synonymous_variant,p.=,ENST00000507510,NM_198385.2;CACNA1G,synonymous_variant,p.=,ENST00000515765,NM_198380.2;CACNA1G,synonymous_variant,p.=,ENST00000515411,NM_001256324.1;CACNA1G,synonymous_variant,p.=,ENST00000510115,;CACNA1G,synonymous_variant,p.=,ENST00000513689,NM_001256326.1;CACNA1G,intron_variant,,ENST00000352832,NM_198379.2,NM_198387.2,NM_001256334.1,NM_198388.2,NM_198376.2;CACNA1G,intron_variant,,ENST00000360761,NM_198382.2,NM_001256332.1;CACNA1G,intron_variant,,ENST00000442258,;CACNA1G,intron_variant,,ENST00000429973,NM_198386.2,NM_198378.2;CACNA1G,intron_variant,,ENST00000358244,;CACNA1G,intron_variant,,ENST00000502264,NM_198383.2;CACNA1G,intron_variant,,ENST00000514079,NM_001256325.1;CACNA1G,intron_variant,,ENST00000515165,NM_198384.2;CACNA1G,intron_variant,,ENST00000507609,NM_001256327.1;CACNA1G,intron_variant,,ENST00000512389,;CACNA1G,intron_variant,,ENST00000514181,NM_001256328.1;CACNA1G,intron_variant,,ENST00000503485,NM_001256359.1,NM_001256329.1;CACNA1G,intron_variant,,ENST00000513964,NM_001256330.1,NM_001256361.1,NM_001256360.1;CACNA1G,intron_variant,,ENST00000510366,NM_001256331.1;CACNA1G,intron_variant,,ENST00000514717,;CACNA1G,intron_variant,,ENST00000505165,NM_001256333.1;CACNA1G,intron_variant,,ENST00000507896,;CACNA1G,intron_variant,,ENST00000506406,;CACNA1G,intron_variant,,ENST00000504076,;CACNA1G,intron_variant,,ENST00000511765,;CACNA1G,intron_variant,,ENST00000503436,;CACNA1G,intron_variant,,ENST00000511768,;CACNA1G,intron_variant,,ENST00000503607,;	uc002irk.1	c.5859G>A	5859/7648	1	1			c.5859G>A						17	SNP	c.(5857-5859)CTG>CTA	61	61			breast(1)	1	Broad	voltage-dependent calcium channel alpha 1G		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	48697121		0.667	ENSG00000006283	2495	g.chr17:48697121G>A	axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity							21.22009	KEEP	5	3	-1	5	9	5	3	-1	21.41505	5	9	0.388889	1	0	0	0	0	0	0	1	0	--	--		0	A			CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Intron|CACNA1G_uc002irm.1_Silent_p.L1919L|CACNA1G_uc002irn.1_Intron|CACNA1G_uc002iro.1_Intron|CACNA1G_uc002irp.1_Silent_p.L1953L|CACNA1G_uc002irq.1_Silent_p.L1930L|CACNA1G_uc002irr.1_Intron|CACNA1G_uc002irs.1_Silent_p.L1942L|CACNA1G_uc002irt.1_Intron|CACNA1G_uc002irv.1_Intron|CACNA1G_uc002irw.1_Intron|CACNA1G_uc002iru.1_Silent_p.L1919L|CACNA1G_uc002irx.1_Intron|CACNA1G_uc002iry.1_Intron|CACNA1G_uc002irz.1_Intron|CACNA1G_uc002isa.1_Intron|CACNA1G_uc002isb.1_Intron|CACNA1G_uc002isc.1_Silent_p.L1855L|CACNA1G_uc002isd.1_Intron|CACNA1G_uc002ise.1_Silent_p.L1821L|CACNA1G_uc002isf.1_Silent_p.L1848L|CACNA1G_uc002isg.1_Intron|CACNA1G_uc002ish.1_Intron|CACNA1G_uc002isi.1_Intron	33	GBM-06-0168-TP	p.L1953L	G	TGGACGAGCTGGCAGGCCCAG	NM_018896	NP_061496	48697121	O43497	CAC1G_HUMAN	0	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		34	6231	+	A	A	Breast(11;6.7e-17)		Silent	1953			Cytoplasmic (Potential).			
CACNA1G	0	broad.mit.edu	GRCh37	17	48703853	48703854	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C			TCGA-14-1825-01	TCGA-14-1825-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359106.5:c.6877dupC	p.Gln2293ProfsTer18	p.Q2293Pfs*18	ENST00000359106	NM_018896.4	2292	ggc/ggCc	0			1			C	G/GX	uc002irk.1	protein_coding	YES	CCDS45730.1			6875-6876/7134									breast(1)	1	c.(6874-6876)GGCfs			hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF137	voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)			ENSP00000352011		38/38										38/38	.		ENST00000359106	Transcript			axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	ENSG00000006283	g.chr17:48703853_48703854insC	1394	2		HIGH								--	--	1																																OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	CACNA1G_uc002irj.1_Frame_Shift_Ins_p.G2086fs|CACNA1G_uc002irl.1_Frame_Shift_Ins_p.G2176fs|CACNA1G_uc002irm.1_Frame_Shift_Ins_p.G2213fs|CACNA1G_uc002irn.1_Frame_Shift_Ins_p.G2158fs|CACNA1G_uc002iro.1_Frame_Shift_Ins_p.G2165fs|CACNA1G_uc002irp.1_Frame_Shift_Ins_p.G2247fs|CACNA1G_uc002irq.1_Frame_Shift_Ins_p.G2269fs|CACNA1G_uc002irr.1_Frame_Shift_Ins_p.G2199fs|CACNA1G_uc002irs.1_Frame_Shift_Ins_p.G2236fs|CACNA1G_uc002irt.1_Frame_Shift_Ins_p.G2181fs|CACNA1G_uc002irv.1_Frame_Shift_Ins_p.G2188fs|CACNA1G_uc002irw.1_Frame_Shift_Ins_p.G2221fs|CACNA1G_uc002iru.1_Frame_Shift_Ins_p.G2258fs|CACNA1G_uc002irx.1_Frame_Shift_Ins_p.G2033fs|CACNA1G_uc002iry.1_Frame_Shift_Ins_p.G2022fs|CACNA1G_uc002irz.1_Frame_Shift_Ins_p.G2105fs|CACNA1G_uc002isa.1_Frame_Shift_Ins_p.G2078fs|CACNA1G_uc002isb.1_Frame_Shift_Ins_p.G2119fs|CACNA1G_uc002isc.1_Frame_Shift_Ins_p.G2194fs|CACNA1G_uc002isd.1_Frame_Shift_Ins_p.G2087fs|CACNA1G_uc002ise.1_Frame_Shift_Ins_p.G2115fs|CACNA1G_uc002isf.1_Frame_Shift_Ins_p.G2142fs|CACNA1G_uc002isg.1_Frame_Shift_Ins_p.G2060fs|CACNA1G_uc002ish.1_Frame_Shift_Ins_p.G2067fs|CACNA1G_uc002isi.1_Frame_Shift_Ins_p.G2055fs		1			p.G2292fs	NM_018896	NP_061496				CAC1G_HUMAN	CACNA1G	HGNC	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)				38	7247_7248	+	Breast(11;6.7e-17)		UPI000012727A	2292			Cytoplasmic (Potential).		insertion	CACNA1G,frameshift_variant,p.Gln2166ProfsTer18,ENST00000352832,NM_198379.2,NM_198387.2,NM_001256334.1,NM_198388.2,NM_198376.2;CACNA1G,frameshift_variant,p.Gln2259ProfsTer18,ENST00000354983,NM_198396.2;CACNA1G,frameshift_variant,p.Gln2293ProfsTer18,ENST00000359106,NM_018896.4;CACNA1G,frameshift_variant,p.Gln2177ProfsTer18,ENST00000360761,NM_198382.2,NM_001256332.1;CACNA1G,frameshift_variant,p.Gln2159ProfsTer18,ENST00000442258,;CACNA1G,frameshift_variant,p.Gln2182ProfsTer18,ENST00000429973,NM_198386.2,NM_198378.2;CACNA1G,frameshift_variant,p.Gln2282ProfsTer18,ENST00000507336,NM_198377.2;CACNA1G,frameshift_variant,p.Gln2087ProfsTer18,ENST00000358244,;CACNA1G,frameshift_variant,p.Gln2248ProfsTer18,ENST00000507510,NM_198385.2;CACNA1G,frameshift_variant,p.Gln2237ProfsTer18,ENST00000515765,NM_198380.2;CACNA1G,frameshift_variant,p.Gln2230ProfsTer18,ENST00000515411,NM_001256324.1;CACNA1G,frameshift_variant,p.Gln2222ProfsTer18,ENST00000502264,NM_198383.2;CACNA1G,frameshift_variant,p.Gln2214ProfsTer18,ENST00000510115,;CACNA1G,frameshift_variant,p.Gln2207ProfsTer18,ENST00000514079,NM_001256325.1;CACNA1G,frameshift_variant,p.Gln2203ProfsTer18,ENST00000513689,NM_001256326.1;CACNA1G,frameshift_variant,p.Gln2200ProfsTer18,ENST00000515165,NM_198384.2;CACNA1G,frameshift_variant,p.Gln2193ProfsTer18,ENST00000507609,NM_001256327.1;CACNA1G,frameshift_variant,p.Gln2189ProfsTer18,ENST00000512389,;CACNA1G,frameshift_variant,p.Gln2175ProfsTer18,ENST00000514181,NM_001256328.1;CACNA1G,frameshift_variant,p.Gln2166ProfsTer18,ENST00000503485,NM_001256359.1,NM_001256329.1;CACNA1G,frameshift_variant,p.Gln2155ProfsTer18,ENST00000513964,NM_001256330.1,NM_001256361.1,NM_001256360.1;CACNA1G,frameshift_variant,p.Gln2148ProfsTer18,ENST00000510366,NM_001256331.1;CACNA1G,frameshift_variant,p.Gln2143ProfsTer18,ENST00000514717,;CACNA1G,frameshift_variant,p.Gln2121ProfsTer18,ENST00000505165,NM_001256333.1;CACNA1G,frameshift_variant,p.Gln2110ProfsTer18,ENST00000507896,;CTB-22K21.2,downstream_gene_variant,,ENST00000502435,;CACNA1G,3_prime_UTR_variant,,ENST00000506406,;CACNA1G,3_prime_UTR_variant,,ENST00000504076,;CACNA1G,3_prime_UTR_variant,,ENST00000511765,;CACNA1G,3_prime_UTR_variant,,ENST00000503436,;CACNA1G,3_prime_UTR_variant,,ENST00000511768,;CACNA1G,3_prime_UTR_variant,,ENST00000503607,;	uc002irk.1	c.6875_6876insC	6875-6876/7648	5	5			c.6875_6876insC						17	INS	c.(6874-6876)GGCfs	3	3			breast(1)	1	Broad	voltage-dependent calcium channel alpha 1G		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	48703854		0.653	ENSG00000006283	2495	g.chr17:48703853_48703854insC	axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity																				0.33	1	0	0	1	1	0	0	0	0	--	--		0	C	OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	CACNA1G_uc002irj.1_Frame_Shift_Ins_p.G2086fs|CACNA1G_uc002irl.1_Frame_Shift_Ins_p.G2176fs|CACNA1G_uc002irm.1_Frame_Shift_Ins_p.G2213fs|CACNA1G_uc002irn.1_Frame_Shift_Ins_p.G2158fs|CACNA1G_uc002iro.1_Frame_Shift_Ins_p.G2165fs|CACNA1G_uc002irp.1_Frame_Shift_Ins_p.G2247fs|CACNA1G_uc002irq.1_Frame_Shift_Ins_p.G2269fs|CACNA1G_uc002irr.1_Frame_Shift_Ins_p.G2199fs|CACNA1G_uc002irs.1_Frame_Shift_Ins_p.G2236fs|CACNA1G_uc002irt.1_Frame_Shift_Ins_p.G2181fs|CACNA1G_uc002irv.1_Frame_Shift_Ins_p.G2188fs|CACNA1G_uc002irw.1_Frame_Shift_Ins_p.G2221fs|CACNA1G_uc002iru.1_Frame_Shift_Ins_p.G2258fs|CACNA1G_uc002irx.1_Frame_Shift_Ins_p.G2033fs|CACNA1G_uc002iry.1_Frame_Shift_Ins_p.G2022fs|CACNA1G_uc002irz.1_Frame_Shift_Ins_p.G2105fs|CACNA1G_uc002isa.1_Frame_Shift_Ins_p.G2078fs|CACNA1G_uc002isb.1_Frame_Shift_Ins_p.G2119fs|CACNA1G_uc002isc.1_Frame_Shift_Ins_p.G2194fs|CACNA1G_uc002isd.1_Frame_Shift_Ins_p.G2087fs|CACNA1G_uc002ise.1_Frame_Shift_Ins_p.G2115fs|CACNA1G_uc002isf.1_Frame_Shift_Ins_p.G2142fs|CACNA1G_uc002isg.1_Frame_Shift_Ins_p.G2060fs|CACNA1G_uc002ish.1_Frame_Shift_Ins_p.G2067fs|CACNA1G_uc002isi.1_Frame_Shift_Ins_p.G2055fs	148	GBM-14-1825-TP	p.G2292fs	-	AACCTTGGGGGCCAGCCTCTTG	NM_018896	NP_061496	48703853	O43497	CAC1G_HUMAN	0	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		38	7247_7248	+	C	C	Breast(11;6.7e-17)		Frame_Shift_Ins	2292			Cytoplasmic (Potential).			
CACNA1H	0	broad.mit.edu	GRCh37	16	1262094	1262094	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01	TCGA-14-0789-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000348261.5:c.4715G>A	p.Arg1572Gln	p.R1572Q	ENST00000348261	NM_021098.2	1572	cGg/cAg	0		A:0	1	A:0		A	R/Q	uc002cks.2	protein_coding	YES	CCDS45375.1			4715/7062									breast(2)	2	c.(4714-4716)CGG>CAG			Coiled-coils_(Ncoils):Coil,Prints_domain:PR01629,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF192,Low_complexity_(Seg):seg	calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Mibefradil(DB01388)	A:0.002		ENSP00000334198	A:0	25/35	3.30E-05			0.000117		1.52E-05		6.06E-05	rs541249511,COSM2143113,COSM3402075,COSM2143112	25/35	.		ENST00000348261	Transcript	1	A:0.0004	aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	ENSG00000196557	g.chr16:1262094G>A	1395			MODERATE		2.025	medium	getma.org/?cm=msa&ty=f&p=CAC1H_HUMAN&rb=1555&re=1650&var=R1572Q	NA	getma.org/?cm=var&var=hg19,16,1262094,G,A&fts=all	R1572Q	--	--	1																																		CACNA1H_uc002ckt.2_Missense_Mutation_p.R1572Q|CACNA1H_uc002cku.2_Missense_Mutation_p.R278Q|CACNA1H_uc010brj.2_Missense_Mutation_p.R278Q|CACNA1H_uc002ckv.2_Missense_Mutation_p.R278Q	0,1,1,1	1		benign(0.022)	p.R1572Q	NM_021098	NP_066921	A:0	deleterious(0.05)	0,1,1,1	CAC1H_HUMAN	CACNA1H	HGNC	O95180	CAC1H_HUMAN			Q9NYY7_HUMAN,Q9NYY6_HUMAN		25	4963	+		Hepatocellular(780;0.00369)	UPI000012727B	1572			Cytoplasmic (Potential).		SNV	CACNA1H,missense_variant,p.Arg1572Gln,ENST00000348261,NM_021098.2;CACNA1H,missense_variant,p.Arg1572Gln,ENST00000358590,NM_001005407.1;CACNA1H,missense_variant,p.Arg1572Gln,ENST00000565831,;CACNA1H,missense_variant,p.Arg122Gln,ENST00000564927,;CACNA1H,missense_variant,p.Arg314Gln,ENST00000569107,;CACNA1H,missense_variant,p.Arg314Gln,ENST00000564231,;CACNA1H,missense_variant,p.Arg314Gln,ENST00000562079,;RP11-616M22.3,upstream_gene_variant,,ENST00000564700,;CACNA1H,downstream_gene_variant,,ENST00000569953,;	uc002cks.2	c.4715G>A	4963/8084	2	2			c.4715G>A						16	SNP	c.(4714-4716)CGG>CAG	20	20			breast(2)	2	Broad	calcium channel, voltage-dependent, T type,		Flunarizine(DB04841)|Mibefradil(DB01388)	1262094		0.682	ENSG00000196557	2496	g.chr16:1262094G>A	aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity							77.558567	KEEP	14	20	-1	34	41	14	20	-1	81.752426	34	41	0.282828	1	0	0	0	0	1	0	0	0	--	--		0	A			CACNA1H_uc002ckt.2_Missense_Mutation_p.R1572Q|CACNA1H_uc002cku.2_Missense_Mutation_p.R278Q|CACNA1H_uc010brj.2_Missense_Mutation_p.R278Q|CACNA1H_uc002ckv.2_Missense_Mutation_p.R278Q	136	GBM-14-0789-TP	p.R1572Q	G	GAGGCGCGGCGGCGAGAGGAG	NM_021098	NP_066921	1262094	O95180	CAC1H_HUMAN	0			25	4963	+	A	A		Hepatocellular(780;0.00369)	Missense_Mutation	1572			Cytoplasmic (Potential).			
CACNA1H	0	broad.mit.edu	GRCh37	16	1255218	1255218	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-27-1833-01	TCGA-27-1833-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000348261.5:c.2556C>A	p.Tyr852Ter	p.Y852*	ENST00000348261	NM_021098.2	852	taC/taA	0			1			A	Y/*	uc002cks.2	protein_coding	YES	CCDS45375.1			2556/7062									breast(2)	2	c.(2554-2556)TAC>TAA			Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF192,Superfamily_domains:SSF81324	calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Mibefradil(DB01388)			ENSP00000334198		Nov-35									COSM3402068,COSM3402066,COSM3402067	Nov-35	.		ENST00000348261	Transcript	1		aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	ENSG00000196557	g.chr16:1255218C>A	1395			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,16,1255218,C,A&fts=all	Y852*	--	--	1																																		CACNA1H_uc002ckt.2_Nonsense_Mutation_p.Y852*	1,1,1	1			p.Y852*	NM_021098	NP_066921			1,1,1	CAC1H_HUMAN	CACNA1H	HGNC	O95180	CAC1H_HUMAN			Q9NYY7_HUMAN,Q9NYY6_HUMAN		11	2804	+		Hepatocellular(780;0.00369)	UPI000012727B	852			II.|Cytoplasmic (Potential).		SNV	CACNA1H,stop_gained,p.Tyr852Ter,ENST00000348261,NM_021098.2;CACNA1H,stop_gained,p.Tyr852Ter,ENST00000358590,NM_001005407.1;CACNA1H,stop_gained,p.Tyr852Ter,ENST00000565831,;CACNA1H,upstream_gene_variant,,ENST00000569107,;CACNA1H,upstream_gene_variant,,ENST00000564231,;CACNA1H,upstream_gene_variant,,ENST00000562079,;RP11-616M22.3,downstream_gene_variant,,ENST00000564700,;CACNA1H,upstream_gene_variant,,ENST00000569953,;	uc002cks.2	c.2556C>A	2804/8084	5	2			c.2556C>A						16	SNP	c.(2554-2556)TAC>TAA	36	36			breast(2)	2	Broad	calcium channel, voltage-dependent, T type,		Flunarizine(DB04841)|Mibefradil(DB01388)	1255218		0.597	ENSG00000196557	2496	g.chr16:1255218C>A	aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity							81.701981	KEEP	16	13	0.448275862	28	29	16	13	0.448275862	82.997048	28	29	0.36	1	0	0	0	0	0	1	0	0	--	--		0	A			CACNA1H_uc002ckt.2_Nonsense_Mutation_p.Y852*	192	GBM-27-1833-TP	p.Y852*	C	CTCTGGGCTACATCCGGAACC	NM_021098	NP_066921	1255218	O95180	CAC1H_HUMAN	0			11	2804	+	A	A		Hepatocellular(780;0.00369)	Nonsense_Mutation	852			II.|Cytoplasmic (Potential).			
CACNA1H	0	broad.mit.edu	GRCh37	16	1270781	1270781	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-4210-01	TCGA-32-4210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000348261.5:c.6849C>T	p.Asp2283=	p.D2283=	ENST00000348261	NM_021098.2	2283	gaC/gaT	0	T:0	T:0	1	T:0		T	D	uc002cks.2	protein_coding	YES	CCDS45375.1			6849/7062									breast(2)	2	c.(6847-6849)GAC>GAT				calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Mibefradil(DB01388)	T:0	T:0.0001	ENSP00000334198	T:0	35/35	0.000215					0.000382		6.06E-05	rs369051137,COSM434647,COSM3402076,COSM434646	35/35	.		ENST00000348261	Transcript	1	T:0.0002	aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	ENSG00000196557	g.chr16:1270781C>T	1395			LOW								--	--	1																																		CACNA1H_uc002ckt.2_Silent_p.D2277D|CACNA1H_uc002cku.2_Silent_p.D978D|CACNA1H_uc010brj.2_Silent_p.D994D|CACNA1H_uc002ckv.2_Silent_p.D972D	0,1,1,1	1			p.D2283D	NM_021098	NP_066921	T:0.001		0,1,1,1	CAC1H_HUMAN	CACNA1H	HGNC	O95180	CAC1H_HUMAN			Q9NYY7_HUMAN,Q9NYY6_HUMAN		35	7097	+		Hepatocellular(780;0.00369)	UPI000012727B	2283			Cytoplasmic (Potential).		SNV	CACNA1H,synonymous_variant,p.=,ENST00000348261,NM_021098.2;CACNA1H,synonymous_variant,p.=,ENST00000358590,NM_001005407.1;CACNA1H,synonymous_variant,p.=,ENST00000565831,;CACNA1H,synonymous_variant,p.=,ENST00000564927,;CACNA1H,synonymous_variant,p.=,ENST00000569107,;CACNA1H,synonymous_variant,p.=,ENST00000564231,;CACNA1H,synonymous_variant,p.=,ENST00000562079,;TPSG1,downstream_gene_variant,,ENST00000234798,NM_012467.3;TPSG1,downstream_gene_variant,,ENST00000564684,;	uc002cks.2	c.6849C>T	7097/8084	2	2			c.6849C>T						16	SNP	c.(6847-6849)GAC>GAT	32	32			breast(2)	2	Broad	calcium channel, voltage-dependent, T type,		Flunarizine(DB04841)|Mibefradil(DB01388)	1270781		0.652	ENSG00000196557	2496	g.chr16:1270781C>T	aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity							75.769557	KEEP	15	16	-1	48	48	15	16	-1	80.957942	48	48	0.274336	1	0	0	0	0	0	0	1	0	--	--		0	T			CACNA1H_uc002ckt.2_Silent_p.D2277D|CACNA1H_uc002cku.2_Silent_p.D978D|CACNA1H_uc010brj.2_Silent_p.D994D|CACNA1H_uc002ckv.2_Silent_p.D972D	245	GBM-32-4210-TP	p.D2283D	C	CTTTCTTGGACGGTAGCCACA	NM_021098	NP_066921	1270781	O95180	CAC1H_HUMAN	0			35	7097	+	T	T		Hepatocellular(780;0.00369)	Silent	2283			Cytoplasmic (Potential).			
CACNA1I	8911	broad.mit.edu	GRCh37	22	40078576	40078576	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0152-01	TCGA-06-0152-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000402142.3:c.5740G>A	p.Val1914Ile	p.V1914I	ENST00000402142	NM_021096.3	1914	Gtc/Atc	0			1			A	V/I	uc003ayc.2	protein_coding	YES	CCDS46710.1			5740/6672									breast(1)|central_nervous_system(1)	2	c.(5740-5742)GTC>ATC			hmmpanther:PTHR10037:SF202,hmmpanther:PTHR10037	calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)			ENSP00000385019		35/37	0.000141		0.00026					0.000848	rs752733821,COSM2149894,COSM3405680,COSM3405681,COSM2149893	35/37	common_variant		ENST00000402142	Transcript			axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	ENSG00000100346	g.chr22:40078576G>A	1396			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=CAC1I_HUMAN&rb=1730&re=1929&var=V1914I	NA	getma.org/?cm=var&var=hg19,22,40078576,G,A&fts=all	V1914I	--	--	1																																		CACNA1I_uc003ayd.2_Missense_Mutation_p.V1879I|CACNA1I_uc003aye.2_Missense_Mutation_p.V1829I|CACNA1I_uc003ayf.2_Missense_Mutation_p.V1794I	0,1,1,1,1	1		benign(0.116)	p.V1914I	NM_021096	NP_066919		tolerated(0.47)	0,1,1,1,1	CAC1I_HUMAN	CACNA1I	HGNC	Q9P0X4	CAC1I_HUMAN					35	5740	+	Melanoma(58;0.0749)		UPI000012727D	1914			Cytoplasmic (Potential).		SNV	CACNA1I,missense_variant,p.Val1920Ile,ENST00000336649,;CACNA1I,missense_variant,p.Val1914Ile,ENST00000402142,NM_021096.3;CACNA1I,missense_variant,p.Val1879Ile,ENST00000400164,;CACNA1I,missense_variant,p.Val1879Ile,ENST00000404898,NM_001003406.1;CACNA1I,missense_variant,p.Val1914Ile,ENST00000401624,;CACNA1I,missense_variant,p.Val1879Ile,ENST00000407673,;	uc003ayc.2	c.5740G>A	5740/10004	2	2			c.5740G>A						22	SNP	c.(5740-5742)GTC>ATC	44	44			breast(1)|central_nervous_system(1)	2	Broad	calcium channel, voltage-dependent, T type,		Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	40078576		0.592	ENSG00000100346	2497	g.chr22:40078576G>A	axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding							128.787762	KEEP	28	17	-1	9	13	28	17	-1	130.212781	9	13	0.66129	1	0	0	0	0	1	0	0	0	--	--		0	A			CACNA1I_uc003ayd.2_Missense_Mutation_p.V1879I|CACNA1I_uc003aye.2_Missense_Mutation_p.V1829I|CACNA1I_uc003ayf.2_Missense_Mutation_p.V1794I	25	GBM-06-0152-TP	p.V1914I	G	CTCTACGGCCGTCTCGCCGGA	NM_021096	NP_066919	40078576	Q9P0X4	CAC1I_HUMAN	0			35	5740	+	A	A	Melanoma(58;0.0749)		Missense_Mutation	1914			Cytoplasmic (Potential).			
CACNA1I	8911	broad.mit.edu	GRCh37	22	39966921	39966921	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000402142.3:c.164C>T	p.Ala55Val	p.A55V	ENST00000402142	NM_021096.3	55	gCg/gTg	0			1			T	A/V	uc003ayc.2	protein_coding	YES	CCDS46710.1			164/6672									breast(1)|central_nervous_system(1)	2	c.(163-165)GCG>GTG			hmmpanther:PTHR10037:SF202,hmmpanther:PTHR10037	calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)			ENSP00000385019		Jan-37									COSM3405679,COSM3405677,COSM3405678,COSM3405676	Jan-37	.		ENST00000402142	Transcript			axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	ENSG00000100346	g.chr22:39966921C>T	1396			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=CAC1I_HUMAN&rb=1&re=116&var=A55V	NA	getma.org/?cm=var&var=hg19,22,39966921,C,T&fts=all	A55V	--	--	1																																		CACNA1I_uc003ayd.2_Missense_Mutation_p.A55V	1,1,1,1	1		benign(0.073)	p.A55V	NM_021096	NP_066919		tolerated(0.08)	1,1,1,1	CAC1I_HUMAN	CACNA1I	HGNC	Q9P0X4	CAC1I_HUMAN					1	164	+	Melanoma(58;0.0749)		UPI000012727D	55			Cytoplasmic (Potential).		SNV	CACNA1I,missense_variant,p.Ala55Val,ENST00000336649,;CACNA1I,missense_variant,p.Ala55Val,ENST00000402142,NM_021096.3;CACNA1I,missense_variant,p.Ala55Val,ENST00000404898,NM_001003406.1;CACNA1I,missense_variant,p.Ala55Val,ENST00000400164,;CACNA1I,missense_variant,p.Ala55Val,ENST00000401624,;CACNA1I,missense_variant,p.Ala55Val,ENST00000407673,;	uc003ayc.2	c.164C>T	164/10004	2	2			c.164C>T						22	SNP	c.(163-165)GCG>GTG	26	26			breast(1)|central_nervous_system(1)	2	Broad	calcium channel, voltage-dependent, T type,		Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	39966921		0.657	ENSG00000100346	2497	g.chr22:39966921C>T	axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding							45.653047	KEEP	18	16	-1	80	62	18	16	-1	57.231019	80	62	0.206897	1	0	0	0	0	1	0	0	0	--	--		0	T			CACNA1I_uc003ayd.2_Missense_Mutation_p.A55V	62	GBM-06-0649-TP	p.A55V	C	CCAGACCTGGCGCCTATTGCC	NM_021096	NP_066919	39966921	Q9P0X4	CAC1I_HUMAN	0			1	164	+	T	T	Melanoma(58;0.0749)		Missense_Mutation	55			Cytoplasmic (Potential).			
CACNA1I	8911	broad.mit.edu	GRCh37	22	40080363	40080363	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-06-2564-01	TCGA-06-2564-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000402142.3:c.5887G>T	p.Glu1963Ter	p.E1963*	ENST00000402142	NM_021096.3	1963	Gag/Tag	0			1			T	E/*	uc003ayc.2	protein_coding	YES	CCDS46710.1			5887/6672									breast(1)|central_nervous_system(1)	2	c.(5887-5889)GAG>TAG			hmmpanther:PTHR10037:SF202,hmmpanther:PTHR10037	calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)			ENSP00000385019		36/37									COSM3405685,COSM3405683,COSM3405684,COSM3405682	36/37	.		ENST00000402142	Transcript			axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	ENSG00000100346	g.chr22:40080363G>T	1396			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,22,40080363,G,T&fts=all	E1963*	--	--	1																																		CACNA1I_uc003ayd.2_Nonsense_Mutation_p.E1928*|CACNA1I_uc003aye.2_Nonsense_Mutation_p.E1878*|CACNA1I_uc003ayf.2_Nonsense_Mutation_p.E1843*	1,1,1,1	1			p.E1963*	NM_021096	NP_066919			1,1,1,1	CAC1I_HUMAN	CACNA1I	HGNC	Q9P0X4	CAC1I_HUMAN					36	5887	+	Melanoma(58;0.0749)		UPI000012727D	1963			Cytoplasmic (Potential).		SNV	CACNA1I,stop_gained,p.Glu1969Ter,ENST00000336649,;CACNA1I,stop_gained,p.Glu1963Ter,ENST00000402142,NM_021096.3;CACNA1I,stop_gained,p.Glu1928Ter,ENST00000400164,;CACNA1I,stop_gained,p.Glu1928Ter,ENST00000404898,NM_001003406.1;CACNA1I,stop_gained,p.Glu1963Ter,ENST00000401624,;CACNA1I,stop_gained,p.Glu1928Ter,ENST00000407673,;	uc003ayc.2	c.5887G>T	5887/10004	5	2			c.5887G>T						22	SNP	c.(5887-5889)GAG>TAG	35	35			breast(1)|central_nervous_system(1)	2	Broad	calcium channel, voltage-dependent, T type,		Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	40080363		0.637	ENSG00000100346	2497	g.chr22:40080363G>T	axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding							29.844453	KEEP	6	6	0.5	12	9	6	6	0.5	30.063228	12	9	0.4	1	0	0	0	0	0	1	0	0	--	--		0	T			CACNA1I_uc003ayd.2_Nonsense_Mutation_p.E1928*|CACNA1I_uc003aye.2_Nonsense_Mutation_p.E1878*|CACNA1I_uc003ayf.2_Nonsense_Mutation_p.E1843*	87	GBM-06-2564-TP	p.E1963*	G	CATGCCAGCCGAGTTCTTCCA	NM_021096	NP_066919	40080363	Q9P0X4	CAC1I_HUMAN	0			36	5887	+	T	T	Melanoma(58;0.0749)		Nonsense_Mutation	1963			Cytoplasmic (Potential).			
CACNA1S	779	broad.mit.edu	GRCh37	1	201028369	201028369	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01	TCGA-06-2565-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000362061.3:c.3473C>T	p.Thr1158Ile	p.T1158I	ENST00000362061	NM_000069.2	1158	aCt/aTt	0			1			A	T/I	uc001gvv.2	protein_coding	YES	CCDS1407.1			3473/5622									ovary(3)|central_nervous_system(1)|skin(1)	5	c.(3472-3474)ACT>ATT			Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF190,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix	calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)			ENSP00000355192		27/44									COSM2153024	27/44	.		ENST00000362061	Transcript	1		axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	ENSG00000081248	g.chr1:201028369G>A	1397			MODERATE		2.605	medium	getma.org/?cm=msa&ty=f&p=CAC1S_HUMAN&rb=1152&re=1380&var=T1158I	getma.org/pdb.php?prot=CAC1S_HUMAN&from=1152&to=1380&var=T1158I	getma.org/?cm=var&var=hg19,1,201028369,G,A&fts=all	T1158I	--	--	1																																			1	1		possibly_damaging(0.794)	p.T1158I	NM_000069	NP_000060		deleterious(0)	1	CAC1S_HUMAN	CACNA1S	HGNC	Q13698	CAC1S_HUMAN			Q13062_HUMAN,Q12966_HUMAN		27	3700	-			UPI000020471D	1158			IV.|Helical; Name=S2 of repeat IV; (Potential).		SNV	CACNA1S,missense_variant,p.Thr1158Ile,ENST00000362061,NM_000069.2;CACNA1S,missense_variant,p.Thr1158Ile,ENST00000367338,;	uc001gvv.2	c.3473C>T	3700/6166	1	1			c.3473C>T						1	SNP	c.(3472-3474)ACT>ATT	49	49			ovary(3)|central_nervous_system(1)|skin(1)	5	Broad	calcium channel, voltage-dependent, L type,		Magnesium Sulfate(DB00653)|Verapamil(DB00661)	201028369		0.597	ENSG00000081248	2498	g.chr1:201028369G>A	axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity							101.881103	KEEP	19	17	-1	25	30	19	17	-1	102.581684	25	30	0.4	1	0	0	0	0	1	0	0	0	--	--		0	A				88	GBM-06-2565-TP	p.T1158I	G	GAAGATGATAGTGAAGGCCAC	NM_000069	NP_000060	201028369	Q13698	CAC1S_HUMAN	0			27	3700	-	A	A			Missense_Mutation	1158			IV.|Helical; Name=S2 of repeat IV; (Potential).			
CACNA1S	0	broad.mit.edu	GRCh37	1	201042718	201042718	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-26-1442-01	TCGA-26-1442-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000362061.3:c.2116G>C	p.Glu706Gln	p.E706Q	ENST00000362061	NM_000069.2	706	Gag/Cag	0			1			G	E/Q	uc001gvv.2	protein_coding	YES	CCDS1407.1			2116/5622									ovary(3)|central_nervous_system(1)|skin(1)	5	c.(2116-2118)GAG>CAG			hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF190	calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)			ENSP00000355192		15/44									COSM3400189	15/44	.		ENST00000362061	Transcript	1		axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	ENSG00000081248	g.chr1:201042718C>G	1397			MODERATE		1.615	low	getma.org/?cm=msa&ty=f&p=CAC1S_HUMAN&rb=661&re=833&var=E706Q	NA	getma.org/?cm=var&var=hg19,1,201042718,C,G&fts=all	E706Q	--	--	1																																			1	1		benign(0.285)	p.E706Q	NM_000069	NP_000060		tolerated(0.09)	1	CAC1S_HUMAN	CACNA1S	HGNC	Q13698	CAC1S_HUMAN			Q13062_HUMAN,Q12966_HUMAN		15	2343	-			UPI000020471D	706			Cytoplasmic (Potential).		SNV	CACNA1S,missense_variant,p.Glu706Gln,ENST00000362061,NM_000069.2;CACNA1S,missense_variant,p.Glu706Gln,ENST00000367338,;	uc001gvv.2	c.2116G>C	2343/6166	3	3			c.2116G>C						1	SNP	c.(2116-2118)GAG>CAG	15	15			ovary(3)|central_nervous_system(1)|skin(1)	5	Broad	calcium channel, voltage-dependent, L type,		Magnesium Sulfate(DB00653)|Verapamil(DB00661)	201042718		0.542	ENSG00000081248	2498	g.chr1:201042718C>G	axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity							-156.818959	KEEP	12	7	-1	367	491	12	7	-1	35.225198	367	491	0.022517	1	0	0	0	0	1	0	0	0	--	--		0	G				180	GBM-26-1442-TP	p.E706Q	C	GGTTTCTGCTCCAGCTTCTTG	NM_000069	NP_000060	201042718	Q13698	CAC1S_HUMAN	0			15	2343	-	G	G			Missense_Mutation	706			Cytoplasmic (Potential).			
CACNA1S	0	broad.mit.edu	GRCh37	1	201021762	201021762	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-5133-01	TCGA-26-5133-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000362061.3:c.3876C>T	p.Ile1292=	p.I1292=	ENST00000362061	NM_000069.2	1292	atC/atT	0			1			A	I	uc001gvv.2	protein_coding	YES	CCDS1407.1			3876/5622									ovary(3)|central_nervous_system(1)|skin(1)	5	c.(3874-3876)ATC>ATT			Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF190,Superfamily_domains:SSF81324	calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)			ENSP00000355192		32/44	8.24E-06					1.50E-05			rs748525277,COSM2211845	32/44	.		ENST00000362061	Transcript	1		axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	ENSG00000081248	g.chr1:201021762G>A	1397			LOW								--	--	1																																			0,1	1			p.I1292I	NM_000069	NP_000060			0,1	CAC1S_HUMAN	CACNA1S	HGNC	Q13698	CAC1S_HUMAN			Q13062_HUMAN,Q12966_HUMAN		32	4103	-			UPI000020471D	1292			Extracellular (Potential).|IV.		SNV	CACNA1S,synonymous_variant,p.=,ENST00000362061,NM_000069.2;CACNA1S,synonymous_variant,p.=,ENST00000367338,;	uc001gvv.2	c.3876C>T	4103/6166	1	1			c.3876C>T						1	SNP	c.(3874-3876)ATC>ATT	64	64			ovary(3)|central_nervous_system(1)|skin(1)	5	Broad	calcium channel, voltage-dependent, L type,		Magnesium Sulfate(DB00653)|Verapamil(DB00661)	201021762		0.557	ENSG00000081248	2498	g.chr1:201021762G>A	axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity							-9.274188	KEEP	1	6	-1	51	66	1	6	-1	13.364316	51	66	0.061947	1	0	0	0	0	0	0	1	0	--	--		0	A				182	GBM-26-5133-TP	p.I1292I	G	CCACCAAGGCGATCTTCCCAA	NM_000069	NP_000060	201021762	Q13698	CAC1S_HUMAN	0			32	4103	-	A	A			Silent	1292			Extracellular (Potential).|IV.			
CACNA1S	0	broad.mit.edu	GRCh37	1	201047161	201047161	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs138364213		TCGA-28-2513-01	TCGA-28-2513-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000362061.3:c.1465C>T	p.Arg489Cys	p.R489C	ENST00000362061	NM_000069.2	489	Cgc/Tgc	0	A:0.0002		1			A	R/C	uc001gvv.2	protein_coding	YES	CCDS1407.1			1465/5622									ovary(3)|central_nervous_system(1)|skin(1)	5	c.(1465-1467)CGC>TGC			Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF190,Superfamily_domains:SSF81324	calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)		A:0.0002	ENSP00000355192		Nov-44	0.000107	0.000384		0.000116		0.000105		6.06E-05	rs138364213,COSM3400190	Nov-44	.		ENST00000362061	Transcript	1		axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	ENSG00000081248	g.chr1:201047161G>A	1397			MODERATE		2.355	medium	getma.org/?cm=msa&ty=f&p=CAC1S_HUMAN&rb=466&re=660&var=R489C	getma.org/pdb.php?prot=CAC1S_HUMAN&from=466&to=660&var=R489C	getma.org/?cm=var&var=hg19,1,201047161,G,A&fts=all	R489C	--	--	1																																			0,1	1		possibly_damaging(0.849)	p.R489C	NM_000069	NP_000060		deleterious(0.01)	0,1	CAC1S_HUMAN	CACNA1S	HGNC	Q13698	CAC1S_HUMAN			Q13062_HUMAN,Q12966_HUMAN		11	1692	-			UPI000020471D	489			II.|Cytoplasmic (Potential).		SNV	CACNA1S,missense_variant,p.Arg489Cys,ENST00000362061,NM_000069.2;CACNA1S,missense_variant,p.Arg489Cys,ENST00000367338,;	uc001gvv.2	c.1465C>T	1692/6166	1	1			c.1465C>T						1	SNP	c.(1465-1467)CGC>TGC	56	56			ovary(3)|central_nervous_system(1)|skin(1)	5	Broad	calcium channel, voltage-dependent, L type,		Magnesium Sulfate(DB00653)|Verapamil(DB00661)	201047161		0.582	ENSG00000081248	2498	g.chr1:201047161G>A	axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity							11.787907	KEEP	5	10	-1	60	62	5	10	-1	29.543704	60	62	0.110169	1	0	0	0	0	1	0	0	0	--	--		0	A				213	GBM-28-2513-TP	p.R489C	G	AAGTACTGGCGCAGGCCCAGC	NM_000069	NP_000060	201047161	Q13698	CAC1S_HUMAN	0			11	1692	-	A	A			Missense_Mutation	489			II.|Cytoplasmic (Potential).			
CACNA1S	0	broad.mit.edu	GRCh37	1	201058474	201058474	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01	TCGA-76-4927-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000362061.3:c.812G>A	p.Gly271Asp	p.G271D	ENST00000362061	NM_000069.2	271	gGc/gAc	0			1			T	G/D	uc001gvv.2	protein_coding	YES	CCDS1407.1			812/5622									ovary(3)|central_nervous_system(1)|skin(1)	5	c.(811-813)GGC>GAC			Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF190,Superfamily_domains:SSF81324	calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)			ENSP00000355192		Jun-44									COSM3400191	Jun-44	.		ENST00000362061	Transcript	1		axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	ENSG00000081248	g.chr1:201058474C>T	1397			MODERATE		2.95	medium	getma.org/?cm=msa&ty=f&p=CAC1S_HUMAN&rb=88&re=333&var=G271D	getma.org/pdb.php?prot=CAC1S_HUMAN&from=88&to=333&var=G271D	getma.org/?cm=var&var=hg19,1,201058474,C,T&fts=all	G271D	--	--	1																																			1	1		probably_damaging(0.995)	p.G271D	NM_000069	NP_000060		deleterious(0)	1	CAC1S_HUMAN	CACNA1S	HGNC	Q13698	CAC1S_HUMAN			Q13062_HUMAN,Q12966_HUMAN		6	1039	-			UPI000020471D	271			Extracellular (Potential).|I.		SNV	CACNA1S,missense_variant,p.Gly271Asp,ENST00000362061,NM_000069.2;CACNA1S,missense_variant,p.Gly271Asp,ENST00000367338,;	uc001gvv.2	c.812G>A	1039/6166	2	2			c.812G>A						1	SNP	c.(811-813)GGC>GAC	33	33			ovary(3)|central_nervous_system(1)|skin(1)	5	Broad	calcium channel, voltage-dependent, L type,		Magnesium Sulfate(DB00653)|Verapamil(DB00661)	201058474		0.627	ENSG00000081248	2498	g.chr1:201058474C>T	axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity							71.602873	KEEP	15	16	-1	22	29	15	16	-1	72.373847	22	29	0.388889	1	0	0	0	0	1	0	0	0	--	--		0	T				267	GBM-76-4927-TP	p.G271D	C	GTGGGTGATGCCATGGTTGGG	NM_000069	NP_000060	201058474	Q13698	CAC1S_HUMAN	0			6	1039	-	T	T			Missense_Mutation	271			Extracellular (Potential).|I.			
CACNA2D1	0	broad.mit.edu	GRCh37	7	81598223	81598223	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01	TCGA-19-2620-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356253.5:c.2411G>A	p.Gly804Glu	p.G804E	ENST00000356253		804	gGg/gAg	0			1			T	G/E	uc003uhr.1	protein_coding					2411/3312									ovary(5)|pancreas(1)	6	c.(2374-2376)GGG>GAG			hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6	calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)			ENSP00000348589		29/39									COSM3412345,COSM3412346	29/39	.		ENST00000356253	Transcript	1			voltage-gated calcium channel complex	metal ion binding	ENSG00000153956	g.chr7:81598223C>T	1399			MODERATE		1.08	low	getma.org/?cm=msa&ty=f&p=CA2D1_HUMAN&rb=654&re=853&var=G804E	NA	getma.org/?cm=var&var=hg19,7,81598223,C,T&fts=all	G804E	--	--	1																																		CACNA2D1_uc011kgy.1_Intron	1,1			benign(0.008)	p.G792E	NM_000722	NP_000713		tolerated(0.34)	1,1	CA2D1_HUMAN	CACNA2D1	HGNC	P54289	CA2D1_HUMAN			Q9UDU5_HUMAN,Q9UDL7_HUMAN,O95026_HUMAN		29	2631	-			UPI0001B9E74B	804			Extracellular (Potential).		SNV	CACNA2D1,missense_variant,p.Gly792Glu,ENST00000356860,NM_000722.2;CACNA2D1,missense_variant,p.Gly804Glu,ENST00000356253,;CACNA2D1,intron_variant,,ENST00000535308,;CACNA2D1,downstream_gene_variant,,ENST00000443883,;CACNA2D1,intron_variant,,ENST00000486539,;CACNA2D1,upstream_gene_variant,,ENST00000469297,;	uc003uhr.1	c.2375G>A	2667/3858	1	1			c.2375G>A						7	SNP	c.(2374-2376)GGG>GAG	1	1			ovary(5)|pancreas(1)	6	Broad	calcium channel, voltage-dependent, alpha		Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	81598223		0.284	ENSG00000153956	2499	g.chr7:81598223C>T		voltage-gated calcium channel complex	metal ion binding							43.563646	KEEP	11	9	-1	49	23	11	9	-1	48.106811	49	23	0.231884	1	0	0	0	0	1	0	0	0	--	--		0	T			CACNA2D1_uc011kgy.1_Intron	162	GBM-19-2620-TP	p.G792E	C	AAGAAGTTTCCCTTGAATATA	NM_000722	NP_000713	81598223	P54289	CA2D1_HUMAN	0			29	2631	-	T	T			Missense_Mutation	804			Extracellular (Potential).			
CACNA2D1	0	broad.mit.edu	GRCh37	7	81799924	81799924	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01	TCGA-28-5208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356253.5:c.296G>A	p.Arg99His	p.R99H	ENST00000356253		99	cGc/cAc	0			1			T	R/H	uc003uhr.1	protein_coding					296/3312									ovary(5)|pancreas(1)	6	c.(295-297)CGC>CAC			hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6	calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)			ENSP00000348589		Apr-39	8.24E-06							6.06E-05	rs562957992,COSM3030327,COSM3412349	Apr-39	.		ENST00000356253	Transcript	1			voltage-gated calcium channel complex	metal ion binding	ENSG00000153956	g.chr7:81799924C>T	1399			MODERATE		0.22	neutral	getma.org/?cm=msa&ty=f&p=CA2D1_HUMAN&rb=1&re=103&var=R99H	NA	getma.org/?cm=var&var=hg19,7,81799924,C,T&fts=all	R99H	--	--	1																																			0,1,1			benign(0.003)	p.R99H	NM_000722	NP_000713		tolerated(0.13)	0,1,1	CA2D1_HUMAN	CACNA2D1	HGNC	P54289	CA2D1_HUMAN			Q9UDU5_HUMAN,Q9UDL7_HUMAN,O95026_HUMAN		4	552	-			UPI0001B9E74B	99	R -> S (in Ref. 1; AAA51903).		Extracellular (Potential).		SNV	CACNA2D1,missense_variant,p.Arg99His,ENST00000356860,NM_000722.2;CACNA2D1,missense_variant,p.Arg99His,ENST00000356253,;CACNA2D1,missense_variant,p.Arg99His,ENST00000423588,;CACNA2D1,splice_region_variant,,ENST00000484706,;	uc003uhr.1	c.296G>A	552/3858	1	1			c.296G>A						7	SNP	c.(295-297)CGC>CAC	12	12			ovary(5)|pancreas(1)	6	Broad	calcium channel, voltage-dependent, alpha		Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	81799924		0.348	ENSG00000153956	2499	g.chr7:81799924C>T		voltage-gated calcium channel complex	metal ion binding							23.588949	KEEP	21	21	-1	184	222	21	21	-1	92.134659	184	222	0.095694	1	0	0	0	0	1	0	0	0	--	--		0	T				217	GBM-28-5208-TP	p.R99H	C	CAATGCCAGGCGCTGAAAAAC	NM_000722	NP_000713	81799924	P54289	CA2D1_HUMAN	0			4	552	-	T	T			Missense_Mutation	99	R -> S (in Ref. 1; AAA51903).		Extracellular (Potential).			
CACNA2D1	0	broad.mit.edu	GRCh37	7	81591256	81591256	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01	TCGA-32-2634-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356253.5:c.2956G>A	p.Asp986Asn	p.D986N	ENST00000356253		986	Gac/Aac	0			1			T	D/N	uc003uhr.1	protein_coding					2956/3312									ovary(5)|pancreas(1)	6	c.(2920-2922)GAC>AAC			hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6	calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)			ENSP00000348589		36/39									COSM3412342,COSM3412343	36/39	.		ENST00000356253	Transcript	1			voltage-gated calcium channel complex	metal ion binding	ENSG00000153956	g.chr7:81591256C>T	1399			MODERATE		0.625	neutral	getma.org/?cm=msa&ty=f&p=CA2D1_HUMAN&rb=854&re=1053&var=D986N	NA	getma.org/?cm=var&var=hg19,7,81591256,C,T&fts=all	D986N	--	--	1																																		CACNA2D1_uc011kgy.1_Missense_Mutation_p.D186N	1,1			benign(0.008)	p.D974N	NM_000722	NP_000713		tolerated(0.62)	1,1	CA2D1_HUMAN	CACNA2D1	HGNC	P54289	CA2D1_HUMAN			Q9UDU5_HUMAN,Q9UDL7_HUMAN,O95026_HUMAN		36	3176	-			UPI0001B9E74B	986			Extracellular (Potential).		SNV	CACNA2D1,missense_variant,p.Asp974Asn,ENST00000356860,NM_000722.2;CACNA2D1,missense_variant,p.Asp986Asn,ENST00000356253,;CACNA2D1,missense_variant,p.Asp186Asn,ENST00000535308,;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000469297,;	uc003uhr.1	c.2920G>A	3212/3858	1	1			c.2920G>A						7	SNP	c.(2920-2922)GAC>AAC	1	1			ovary(5)|pancreas(1)	6	Broad	calcium channel, voltage-dependent, alpha		Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	81591256		0.418	ENSG00000153956	2499	g.chr7:81591256C>T		voltage-gated calcium channel complex	metal ion binding							99.554129	KEEP	25	11	-1	37	25	25	11	-1	100.858968	37	25	0.370787	1	0	0	0	0	1	0	0	0	--	--		0	T			CACNA2D1_uc011kgy.1_Missense_Mutation_p.D186N	241	GBM-32-2634-TP	p.D974N	C	GATTTACTGTCGTTATCGAAG	NM_000722	NP_000713	81591256	P54289	CA2D1_HUMAN	0			36	3176	-	T	T			Missense_Mutation	986			Extracellular (Potential).			
CACNA2D1	781		GRCh37	7	81591237	81591238	+	missense_variant	Missense_Mutation	DNP	CC	CC	AT			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000356860.3:c.2938_2939delinsAT	p.Gly980Ile	p.G980I	ENST00000356860	NM_000722.2	980	GGt/ATt	0																																																																																																																																																																																																																																												
CACNA2D1	781		GRCh37	7	81611940	81611940	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000356860.3:c.1898C>T	p.Ser633Leu	p.S633L	ENST00000356860	NM_000722.2	633	tCg/tTg	0																																																																																																																																																																																																																																												
CACNA2D2	9254	broad.mit.edu	GRCh37	3	50405101	50405101	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6389-01	TCGA-06-6389-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000479441.1:c.2290G>A	p.Gly764Ser	p.G764S	ENST00000479441		764	Ggt/Agt	0			1			T	G/S	uc003daq.2	protein_coding	YES	CCDS54588.1			2290/3453									lung(1)	1	c.(2290-2292)GGT>AGT			hmmpanther:PTHR10166:SF7,hmmpanther:PTHR10166	calcium channel, voltage-dependent, alpha	Gabapentin(DB00996)			ENSP00000418081		27/39									COSM3916319	27/39	.		ENST00000479441	Transcript			energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	ENSG00000007402	g.chr3:50405101C>T	1400			MODERATE		2.31	medium	getma.org/?cm=msa&ty=f&p=CA2D2_HUMAN&rb=674&re=873&var=G764S	NA	getma.org/?cm=var&var=hg19,3,50405101,C,T&fts=all	G764S	--	--	1																																		CACNA2D2_uc003dap.2_Missense_Mutation_p.G757S|CACNA2D2_uc003dao.2_5'Flank	1	1		probably_damaging(0.944)	p.G764S	NM_006030	NP_006021		deleterious(0)	1	CA2D2_HUMAN	CACNA2D2	HGNC	Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)			27	2328	-			UPI0000E5A6AF	764			Extracellular (Potential).		SNV	CACNA2D2,missense_variant,p.Gly764Ser,ENST00000435965,;CACNA2D2,missense_variant,p.Gly757Ser,ENST00000395083,;CACNA2D2,missense_variant,p.Gly757Ser,ENST00000266039,;CACNA2D2,missense_variant,p.Gly764Ser,ENST00000423994,NM_001174051.1;CACNA2D2,missense_variant,p.Gly757Ser,ENST00000429770,NM_006030.2,NM_001005505.1;CACNA2D2,missense_variant,p.Gly688Ser,ENST00000360963,;CACNA2D2,missense_variant,p.Gly757Ser,ENST00000424201,;CACNA2D2,missense_variant,p.Gly764Ser,ENST00000479441,;XXcos-LUCA11.5,intron_variant,,ENST00000606589,;XXcos-LUCA11.4,intron_variant,,ENST00000607121,;XXcos-LUCA11.4,intron_variant,,ENST00000606665,;XXcos-LUCA11.4,intron_variant,,ENST00000606259,;XXcos-LUCA11.4,intron_variant,,ENST00000607088,;XXcos-LUCA11.4,intron_variant,,ENST00000607362,;XXcos-LUCA11.4,downstream_gene_variant,,ENST00000607583,;CACNA2D2,upstream_gene_variant,,ENST00000483620,;	uc003daq.2	c.2290G>A	2290/3453	2	2			c.2290G>A						3	SNP	c.(2290-2292)GGT>AGT	28	28			lung(1)	1	Broad	calcium channel, voltage-dependent, alpha		Gabapentin(DB00996)	50405101		0.642	ENSG00000007402	2500	g.chr3:50405101C>T	energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity							5.843568	KEEP	3	2	-1	17	29	3	2	-1	12.322473	17	29	0.113636	1	0	0	0	0	1	0	0	0	--	--		0	T			CACNA2D2_uc003dap.2_Missense_Mutation_p.G757S|CACNA2D2_uc003dao.2_5'Flank	105	GBM-06-6389-TP	p.G764S	C	GTGATGCCACCGTCTGTGGCA	NM_006030	NP_006021	50405101	Q9NY47	CA2D2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	27	2328	-	T	T			Missense_Mutation	764			Extracellular (Potential).			
CACNA2D2	0	broad.mit.edu	GRCh37	3	50416395	50416395	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-3476-01	TCGA-14-3476-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000479441.1:c.1290G>A	p.Gln430=	p.Q430=	ENST00000479441		430	caG/caA	0			1			T	Q	uc003daq.2	protein_coding	YES	CCDS54588.1			1290/3453									lung(1)	1	c.(1288-1290)CAG>CAA			PROSITE_profiles:PS50234,hmmpanther:PTHR10166:SF7,hmmpanther:PTHR10166,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	calcium channel, voltage-dependent, alpha	Gabapentin(DB00996)			ENSP00000418081		13/39									COSM3408766	13/39	.		ENST00000479441	Transcript			energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	ENSG00000007402	g.chr3:50416395C>T	1400			LOW								--	--	1																																		CACNA2D2_uc003dap.2_Silent_p.Q430Q	1	1			p.Q430Q	NM_006030	NP_006021			1	CA2D2_HUMAN	CACNA2D2	HGNC	Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)			13	1328	-			UPI0000E5A6AF	430			VWFA.|Extracellular (Potential).		SNV	CACNA2D2,synonymous_variant,p.=,ENST00000435965,;CACNA2D2,synonymous_variant,p.=,ENST00000395083,;CACNA2D2,synonymous_variant,p.=,ENST00000266039,;CACNA2D2,synonymous_variant,p.=,ENST00000423994,NM_001174051.1;CACNA2D2,synonymous_variant,p.=,ENST00000429770,NM_006030.2,NM_001005505.1;CACNA2D2,synonymous_variant,p.=,ENST00000360963,;CACNA2D2,synonymous_variant,p.=,ENST00000424201,;CACNA2D2,synonymous_variant,p.=,ENST00000479441,;	uc003daq.2	c.1290G>A	1290/3453	2	2			c.1290G>A						3	SNP	c.(1288-1290)CAG>CAA	22	22			lung(1)	1	Broad	calcium channel, voltage-dependent, alpha		Gabapentin(DB00996)	50416395		0.587	ENSG00000007402	2500	g.chr3:50416395C>T	energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity							-20.879086	KEEP	1	2	-1	68	68	1	2	-1	6.545083	68	68	0.027027	1	0	0	0	0	0	0	1	0	--	--		0	T			CACNA2D2_uc003dap.2_Silent_p.Q430Q	151	GBM-14-3476-TP	p.Q430Q	C	CATAGTTATGCTGCCCCACGG	NM_006030	NP_006021	50416395	Q9NY47	CA2D2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	13	1328	-	T	T			Silent	430			VWFA.|Extracellular (Potential).			
CACNA2D2	0	broad.mit.edu	GRCh37	3	50414925	50414925	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-32-4211-01	TCGA-32-4211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000479441.1:c.1599C>A	p.Asp533Glu	p.D533E	ENST00000479441		533	gaC/gaA	0			1			T	D/E	uc003daq.2	protein_coding	YES	CCDS54588.1			1599/3453									lung(1)	1	c.(1597-1599)GAC>GAA			hmmpanther:PTHR10166:SF7,hmmpanther:PTHR10166,Pfam_domain:PF02743,Gene3D:3.30.450.20	calcium channel, voltage-dependent, alpha	Gabapentin(DB00996)			ENSP00000418081		17/39									COSM3408765	17/39	.		ENST00000479441	Transcript			energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	ENSG00000007402	g.chr3:50414925G>T	1400			MODERATE		0.05	neutral	getma.org/?cm=msa&ty=f&p=CA2D2_HUMAN&rb=485&re=574&var=D533E	NA	getma.org/?cm=var&var=hg19,3,50414925,G,T&fts=all	D533E	--	--	1																																		CACNA2D2_uc003dap.2_Missense_Mutation_p.D533E	1	1		benign(0.138)	p.D533E	NM_006030	NP_006021		tolerated(0.3)	1	CA2D2_HUMAN	CACNA2D2	HGNC	Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)			17	1637	-			UPI0000E5A6AF	533			Cache.|Extracellular (Potential).		SNV	CACNA2D2,missense_variant,p.Asp533Glu,ENST00000435965,;CACNA2D2,missense_variant,p.Asp533Glu,ENST00000395083,;CACNA2D2,missense_variant,p.Asp533Glu,ENST00000266039,;CACNA2D2,missense_variant,p.Asp533Glu,ENST00000423994,NM_001174051.1;CACNA2D2,missense_variant,p.Asp533Glu,ENST00000429770,NM_006030.2,NM_001005505.1;CACNA2D2,missense_variant,p.Asp464Glu,ENST00000360963,;CACNA2D2,missense_variant,p.Asp533Glu,ENST00000424201,;CACNA2D2,missense_variant,p.Asp533Glu,ENST00000479441,;	uc003daq.2	c.1599C>A	1599/3453	1	1			c.1599C>A						3	SNP	c.(1597-1599)GAC>GAA	5	5			lung(1)	1	Broad	calcium channel, voltage-dependent, alpha		Gabapentin(DB00996)	50414925		0.597	ENSG00000007402	2500	g.chr3:50414925G>T	energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity							-10.843891	KEEP	1	3	0.25	48	41	1	3	0.25	6.830808	48	41	0.038961	1	0	0	0	0	1	0	0	0	--	--		0	T			CACNA2D2_uc003dap.2_Missense_Mutation_p.D533E	246	GBM-32-4211-TP	p.D533E	G	GCCTCTTGATGTCATTCAGAG	NM_006030	NP_006021	50414925	Q9NY47	CA2D2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	17	1637	-	T	T			Missense_Mutation	533			Cache.|Extracellular (Potential).			
CACNA2D2	9254		GRCh37	3	50513588	50513588	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000479441.1:c.249C>T	p.Gly83=	p.G83=	ENST00000479441		83	ggC/ggT	0																																																																																																																																																																																																																																												
CACNA2D3	0	broad.mit.edu	GRCh37	3	54930849	54930849	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01	TCGA-14-0789-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288197.5:c.2320G>A	p.Ala774Thr	p.A774T	ENST00000288197		774	Gct/Act	0			1			A	A/T	uc003dhf.2	protein_coding					2320/3276								p.A774T(1)	large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	c.(2320-2322)GCT>ACT			hmmpanther:PTHR10166:SF25,hmmpanther:PTHR10166	calcium channel, voltage-dependent, alpha				ENSP00000288197		26/38	2.48E-05			0.000232				6.06E-05	rs775275975,COSM40987	26/38	.		ENST00000288197	Transcript				integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	ENSG00000157445	g.chr3:54930849G>A	15460			MODERATE		2.19	medium	getma.org/?cm=msa&ty=f&p=CA2D3_HUMAN&rb=750&re=949&var=A774T	NA	getma.org/?cm=var&var=hg19,3,54930849,G,A&fts=all	A774T	--	--	1																																		CACNA2D3_uc003dhg.1_Missense_Mutation_p.A680T|CACNA2D3_uc003dhh.1_RNA|uc003dhk.1_RNA	0,1			probably_damaging(0.995)	p.A774T	NM_018398	NP_060868		deleterious(0.01)	0,1	CA2D3_HUMAN	CACNA2D3	HGNC	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	C9JAV5_HUMAN		26	2368	+			UPI000004A7BF	774			Extracellular (Potential).		SNV	CACNA2D3,missense_variant,p.Ala774Thr,ENST00000474759,NM_018398.2;CACNA2D3,missense_variant,p.Ala774Thr,ENST00000288197,;CACNA2D3,missense_variant,p.Ala774Thr,ENST00000415676,;CACNA2D3,missense_variant,p.Ala680Thr,ENST00000490478,;CACNA2D3-AS1,non_coding_transcript_exon_variant,,ENST00000471265,;CACNA2D3,3_prime_UTR_variant,,ENST00000471363,;	uc003dhf.2	c.2320G>A	2368/3671	2	2			c.2320G>A						3	SNP	c.(2320-2322)GCT>ACT	26	26		p.A774T(1)	large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	Broad	calcium channel, voltage-dependent, alpha			54930849		0.537	ENSG00000157445	2501	g.chr3:54930849G>A		integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity							113.333595	KEEP	25	25	-1	91	64	25	25	-1	124.902542	91	64	0.243523	1	0	0	0	0	1	0	0	0	--	--		0	A			CACNA2D3_uc003dhg.1_Missense_Mutation_p.A680T|CACNA2D3_uc003dhh.1_RNA|uc003dhk.1_RNA	136	GBM-14-0789-TP	p.A774T	G	CCGAAGAGCCGCTGAGCAGAT	NM_018398	NP_060868	54930849	Q8IZS8	CA2D3_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	26	2368	+	A	A			Missense_Mutation	774			Extracellular (Potential).			
CACNA2D3	0	broad.mit.edu	GRCh37	3	55107854	55107854	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01	TCGA-28-5208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288197.5:c.3151C>T	p.Arg1051Cys	p.R1051C	ENST00000288197		1051	Cgc/Tgc	0			1			T	R/C	uc003dhf.2	protein_coding					3151/3276									large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	c.(3151-3153)CGC>TGC			hmmpanther:PTHR10166:SF25,hmmpanther:PTHR10166	calcium channel, voltage-dependent, alpha				ENSP00000288197		37/38									COSM446887	37/38	.		ENST00000288197	Transcript				integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	ENSG00000157445	g.chr3:55107854C>T	15460			MODERATE		2.5	medium	getma.org/?cm=msa&ty=f&p=CA2D3_HUMAN&rb=950&re=1091&var=R1051C	NA	getma.org/?cm=var&var=hg19,3,55107854,C,T&fts=all	R1051C	--	--	1																																			1			possibly_damaging(0.732)	p.R1051C	NM_018398	NP_060868		deleterious(0)	1	CA2D3_HUMAN	CACNA2D3	HGNC	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	C9JAV5_HUMAN		37	3199	+			UPI000004A7BF	1051			Extracellular (Potential).		SNV	CACNA2D3,missense_variant,p.Arg1051Cys,ENST00000474759,NM_018398.2;CACNA2D3,missense_variant,p.Arg1051Cys,ENST00000288197,;CACNA2D3,missense_variant,p.Arg1051Cys,ENST00000415676,;CACNA2D3,missense_variant,p.Arg957Cys,ENST00000490478,;CACNA2D3,non_coding_transcript_exon_variant,,ENST00000478261,;CACNA2D3,3_prime_UTR_variant,,ENST00000471363,;CACNA2D3,non_coding_transcript_exon_variant,,ENST00000471865,;	uc003dhf.2	c.3151C>T	3199/3671	2	2			c.3151C>T						3	SNP	c.(3151-3153)CGC>TGC	33	33			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	Broad	calcium channel, voltage-dependent, alpha			55107854		0.448	ENSG00000157445	2501	g.chr3:55107854C>T		integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity							65.779434	KEEP	14	15	-1	20	26	14	15	-1	66.860196	20	26	0.363636	1	0	0	0	0	1	0	0	0	--	--		0	T				217	GBM-28-5208-TP	p.R1051C	C	GATCAGAAGGCGCCCAGAATC	NM_018398	NP_060868	55107854	Q8IZS8	CA2D3_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	37	3199	+	T	T			Missense_Mutation	1051			Extracellular (Potential).			
CACNB2	783		GRCh37	10	18828173	18828173	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000324631.7:c.1503T>C	p.Asp501=	p.D501=	ENST00000324631	NM_201593.2	501	gaT/gaC	0																																																																																																																																																																																																																																												
CACNB3	0	broad.mit.edu	GRCh37	12	49217552	49217552	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-2624-01	TCGA-19-2624-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301050.2:c.257A>G	p.Asn86Ser	p.N86S	ENST00000301050	NM_000725.3	86	aAc/aGc	0			1			G	N/S	uc001rsl.1	protein_coding	YES	CCDS8769.1			257/1455										0	c.(256-258)AAC>AGC			Gene3D:2.30.30.40,hmmpanther:PTHR11824,Superfamily_domains:SSF50044	calcium channel, voltage-dependent, beta 3	Verapamil(DB00661)			ENSP00000301050		13-Mar									COSM3398755,COSM3398756	13-Mar	.		ENST00000301050	Transcript			axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	ENSG00000167535	g.chr12:49217552A>G	1403			MODERATE		-2.3	neutral	getma.org/?cm=msa&ty=f&p=CACB3_HUMAN&rb=59&re=120&var=N86S	getma.org/pdb.php?prot=CACB3_HUMAN&from=59&to=120&var=N86S	getma.org/?cm=var&var=hg19,12,49217552,A,G&fts=all	N86S	--	--	1																																		CACNB3_uc010slx.1_Missense_Mutation_p.N73S|CACNB3_uc010sly.1_Missense_Mutation_p.N73S|CACNB3_uc010slz.1_Missense_Mutation_p.N85S|CACNB3_uc001rsk.1_5'UTR	1,1	1		benign(0.42)	p.N86S	NM_000725	NP_000716		tolerated(1)	1,1	CACB3_HUMAN	CACNB3	HGNC	P54284	CACB3_HUMAN			F8VUW8_HUMAN,F8VU10_HUMAN		3	458	+			UPI000000D9BA	86			SH3.		SNV	CACNB3,missense_variant,p.Asn86Ser,ENST00000301050,NM_000725.3;CACNB3,missense_variant,p.Asn86Ser,ENST00000547392,;CACNB3,missense_variant,p.Asn85Ser,ENST00000536187,NM_001206916.1;CACNB3,missense_variant,p.Asn73Ser,ENST00000540990,NM_001206917.1;CACNB3,missense_variant,p.Asn86Ser,ENST00000548279,;CACNB3,missense_variant,p.Asn37Ser,ENST00000550190,;CACNB3,5_prime_UTR_variant,,ENST00000547818,;CACNB3,5_prime_UTR_variant,,ENST00000550064,;CACNB3,intron_variant,,ENST00000547230,NM_001206915.1;CACNB3,non_coding_transcript_exon_variant,,ENST00000550168,;CACNB3,non_coding_transcript_exon_variant,,ENST00000552022,;CACNB3,non_coding_transcript_exon_variant,,ENST00000549971,;CACNB3,missense_variant,p.Asn73Ser,ENST00000550391,;CACNB3,missense_variant,p.Asn85Ser,ENST00000548874,;CACNB3,3_prime_UTR_variant,,ENST00000551544,;CACNB3,non_coding_transcript_exon_variant,,ENST00000548860,;CACNB3,non_coding_transcript_exon_variant,,ENST00000549226,;CACNB3,non_coding_transcript_exon_variant,,ENST00000550771,;CACNB3,non_coding_transcript_exon_variant,,ENST00000551716,;CACNB3,non_coding_transcript_exon_variant,,ENST00000547693,;CACNB3,downstream_gene_variant,,ENST00000552812,;CACNB3,upstream_gene_variant,,ENST00000552480,;CACNB3,upstream_gene_variant,,ENST00000550483,;	uc001rsl.1	c.257A>G	456/2696	3	3			c.257A>G						12	SNP	c.(256-258)AAC>AGC	64	64				0	Broad	calcium channel, voltage-dependent, beta 3		Verapamil(DB00661)	49217552		0.493	ENSG00000167535	2505	g.chr12:49217552A>G	axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity							-18.261685	KEEP	2	2	-1	70	46	2	2	-1	6.844441	70	46	0.029126	1	0	0	0	0	1	0	0	0	--	--		0	G			CACNB3_uc010slx.1_Missense_Mutation_p.N73S|CACNB3_uc010sly.1_Missense_Mutation_p.N73S|CACNB3_uc010slz.1_Missense_Mutation_p.N85S|CACNB3_uc001rsk.1_5'UTR	164	GBM-19-2624-TP	p.N86S	A	TCTGGAGTCAACTTTGAGGCC	NM_000725	NP_000716	49217552	P54284	CACB3_HUMAN	0			3	458	+	G	G			Missense_Mutation	86			SH3.			
CACNB3	0	broad.mit.edu	GRCh37	12	49218455	49218455	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-19-5951-01	TCGA-19-5951-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301050.2:c.411A>G	p.Arg137=	p.R137=	ENST00000301050	NM_000725.3	137	agA/agG	0			1			G	R	uc001rsl.1	protein_coding	YES	CCDS8769.1			411/1455										0	c.(409-411)AGA>AGG			Gene3D:2.30.30.40,hmmpanther:PTHR11824,Superfamily_domains:SSF50044	calcium channel, voltage-dependent, beta 3	Verapamil(DB00661)			ENSP00000301050		13-May									COSM2156637,COSM2156638	13-May	.		ENST00000301050	Transcript			axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	ENSG00000167535	g.chr12:49218455A>G	1403			LOW								--	--	1																																		CACNB3_uc010slx.1_Silent_p.R124R|CACNB3_uc010sly.1_Silent_p.R124R|CACNB3_uc010slz.1_Silent_p.R136R|CACNB3_uc001rsk.1_5'UTR	1,1	1			p.R137R	NM_000725	NP_000716			1,1	CACB3_HUMAN	CACNB3	HGNC	P54284	CACB3_HUMAN			F8VUW8_HUMAN,F8VU10_HUMAN		5	612	+			UPI000000D9BA	137					SNV	CACNB3,synonymous_variant,p.=,ENST00000301050,NM_000725.3;CACNB3,synonymous_variant,p.=,ENST00000547230,NM_001206915.1;CACNB3,synonymous_variant,p.=,ENST00000547392,;CACNB3,synonymous_variant,p.=,ENST00000536187,NM_001206916.1;CACNB3,synonymous_variant,p.=,ENST00000540990,NM_001206917.1;CACNB3,synonymous_variant,p.=,ENST00000548279,;CACNB3,5_prime_UTR_variant,,ENST00000547818,;CACNB3,5_prime_UTR_variant,,ENST00000550064,;CACNB3,intron_variant,,ENST00000550190,;CACNB3,non_coding_transcript_exon_variant,,ENST00000550168,;CACNB3,non_coding_transcript_exon_variant,,ENST00000552022,;CACNB3,downstream_gene_variant,,ENST00000549971,;CACNB3,missense_variant,p.Ile98Val,ENST00000548874,;CACNB3,synonymous_variant,p.=,ENST00000550391,;CACNB3,synonymous_variant,p.=,ENST00000550483,;CACNB3,3_prime_UTR_variant,,ENST00000551544,;CACNB3,non_coding_transcript_exon_variant,,ENST00000548860,;CACNB3,non_coding_transcript_exon_variant,,ENST00000549226,;CACNB3,downstream_gene_variant,,ENST00000552812,;CACNB3,upstream_gene_variant,,ENST00000552480,;CACNB3,downstream_gene_variant,,ENST00000550771,;CACNB3,downstream_gene_variant,,ENST00000551716,;CACNB3,downstream_gene_variant,,ENST00000547693,;	uc001rsl.1	c.411A>G	610/2696	3	3			c.411A>G						12	SNP	c.(409-411)AGA>AGG	52	52				0	Broad	calcium channel, voltage-dependent, beta 3		Verapamil(DB00661)	49218455		0.483	ENSG00000167535	2505	g.chr12:49218455A>G	axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity							89.406424	KEEP	11	17	-1	15	17	11	17	-1	89.466099	15	17	0.462963	1	0	0	0	0	0	0	1	0	--	--		0	G			CACNB3_uc010slx.1_Silent_p.R124R|CACNB3_uc010sly.1_Silent_p.R124R|CACNB3_uc010slz.1_Silent_p.R136R|CACNB3_uc001rsk.1_5'UTR	171	GBM-19-5951-TP	p.R137R	A	TTCTCAGGAGATCTGGGAACC	NM_000725	NP_000716	49218455	P54284	CACB3_HUMAN	0			5	612	+	G	G			Silent	137						
CACNB3	0	broad.mit.edu	GRCh37	12	49218469	49218469	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01	TCGA-27-1836-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301050.2:c.425C>T	p.Ser142Phe	p.S142F	ENST00000301050	NM_000725.3	142	tCc/tTc	0			1			T	S/F	uc001rsl.1	protein_coding	YES	CCDS8769.1			425/1455										0	c.(424-426)TCC>TTC			Gene3D:2.30.30.40,hmmpanther:PTHR11824,Superfamily_domains:SSF50044	calcium channel, voltage-dependent, beta 3	Verapamil(DB00661)			ENSP00000301050		13-May									COSM3398757,COSM3398758	13-May	.		ENST00000301050	Transcript			axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	ENSG00000167535	g.chr12:49218469C>T	1403			MODERATE		2.485	medium	getma.org/?cm=msa&ty=f&p=CACB3_HUMAN&rb=59&re=175&var=S142F	getma.org/pdb.php?prot=CACB3_HUMAN&from=59&to=175&var=S142F	getma.org/?cm=var&var=hg19,12,49218469,C,T&fts=all	S142F	--	--	1																																		CACNB3_uc010slx.1_Missense_Mutation_p.S129F|CACNB3_uc010sly.1_Missense_Mutation_p.S129F|CACNB3_uc010slz.1_Missense_Mutation_p.S141F|CACNB3_uc001rsk.1_5'UTR	1,1	1		possibly_damaging(0.553)	p.S142F	NM_000725	NP_000716		deleterious(0)	1,1	CACB3_HUMAN	CACNB3	HGNC	P54284	CACB3_HUMAN			F8VUW8_HUMAN,F8VU10_HUMAN		5	626	+			UPI000000D9BA	142					SNV	CACNB3,missense_variant,p.Ser142Phe,ENST00000301050,NM_000725.3;CACNB3,missense_variant,p.Ser101Phe,ENST00000547230,NM_001206915.1;CACNB3,missense_variant,p.Ser142Phe,ENST00000547392,;CACNB3,missense_variant,p.Ser141Phe,ENST00000536187,NM_001206916.1;CACNB3,missense_variant,p.Ser129Phe,ENST00000540990,NM_001206917.1;CACNB3,missense_variant,p.Ser141Phe,ENST00000548279,;CACNB3,5_prime_UTR_variant,,ENST00000547818,;CACNB3,5_prime_UTR_variant,,ENST00000550064,;CACNB3,intron_variant,,ENST00000550190,;CACNB3,non_coding_transcript_exon_variant,,ENST00000550168,;CACNB3,non_coding_transcript_exon_variant,,ENST00000552022,;CACNB3,downstream_gene_variant,,ENST00000549971,;CACNB3,missense_variant,p.Ser129Phe,ENST00000550391,;CACNB3,missense_variant,p.Ser54Phe,ENST00000550483,;CACNB3,synonymous_variant,p.=,ENST00000548874,;CACNB3,3_prime_UTR_variant,,ENST00000551544,;CACNB3,non_coding_transcript_exon_variant,,ENST00000548860,;CACNB3,non_coding_transcript_exon_variant,,ENST00000549226,;CACNB3,downstream_gene_variant,,ENST00000552812,;CACNB3,upstream_gene_variant,,ENST00000552480,;CACNB3,downstream_gene_variant,,ENST00000550771,;CACNB3,downstream_gene_variant,,ENST00000551716,;CACNB3,downstream_gene_variant,,ENST00000547693,;	uc001rsl.1	c.425C>T	624/2696	1	1			c.425C>T						12	SNP	c.(424-426)TCC>TTC	7	7				0	Broad	calcium channel, voltage-dependent, beta 3		Verapamil(DB00661)	49218469		0.493	ENSG00000167535	2505	g.chr12:49218469C>T	axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity							76.261928	KEEP	14	19	-1	39	45	14	19	-1	80.453835	39	45	0.282828	1	0	0	0	0	1	0	0	0	--	--		0	T			CACNB3_uc010slx.1_Missense_Mutation_p.S129F|CACNB3_uc010sly.1_Missense_Mutation_p.S129F|CACNB3_uc010slz.1_Missense_Mutation_p.S141F|CACNB3_uc001rsk.1_5'UTR	195	GBM-27-1836-TP	p.S142F	C	GGGAACCCTTCCAGCCTGAGT	NM_000725	NP_000716	49218469	P54284	CACB3_HUMAN	0			5	626	+	T	T			Missense_Mutation	142						
CACNG1	786	broad.mit.edu	GRCh37	17	65041001	65041001	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0882-01	TCGA-06-0882-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000226021.3:c.225C>T	p.Pro75=	p.P75=	ENST00000226021	NM_000727.3	75	ccC/ccT	0		T:0	1	T:0		T	P	uc002jfu.2	protein_coding	YES	CCDS11668.1			225/669										0	c.(223-225)CCC>CCT			Pfam_domain:PF13903,hmmpanther:PTHR15025,hmmpanther:PTHR15025:SF1	voltage-dependent calcium channel gamma-1	Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	T:0		ENSP00000226021	T:0	4-Jan	0.000231		9.76E-05			3.39E-05		0.00168	rs573783922,COSM3403132	4-Jan	common_variant		ENST00000226021	Transcript		T:0.0004	muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity	ENSG00000108878	g.chr17:65041001C>T	1405			LOW								--	--	1																																			0,1	1			p.P75P	NM_000727	NP_000718	T:0.002		0,1	CCG1_HUMAN	CACNG1	HGNC	Q06432	CCG1_HUMAN					1	296	+	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)		UPI00001272A9	75					SNV	CACNG1,synonymous_variant,p.=,ENST00000226021,NM_000727.3;	uc002jfu.2	c.225C>T	296/1262	1	1			c.225C>T						17	SNP	c.(223-225)CCC>CCT	3	3				0	Broad	voltage-dependent calcium channel gamma-1		Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	65041001		0.637	ENSG00000108878	2507	g.chr17:65041001C>T	muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity							6.855197	KEEP	2	3	-1	16	17	2	3	-1	11.389365	16	17	0.138889	1	0	0	0	0	0	0	1	0	--	--		0	T				77	GBM-06-0882-TP	p.P75P	C	TCACCCTGCCCGGGGGTAACG	NM_000727	NP_000718	65041001	Q06432	CCG1_HUMAN	0			1	296	+	T	T	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)		Silent	75						
CACNG3	10368	broad.mit.edu	GRCh37	16	24366257	24366257	+	synonymous_variant	Silent	SNP	C	C	T	rs147734423		TCGA-02-2485-01	TCGA-02-2485-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000005284.3:c.399C>T	p.Asn133=	p.N133=	ENST00000005284	NM_006539.3	133	aaC/aaT	0	T:0		1			T	N	uc002dmf.2	protein_coding	YES	CCDS10620.1			399/948										0	c.(397-399)AAC>AAT			Pfam_domain:PF00822,hmmpanther:PTHR12107,hmmpanther:PTHR12107:SF5	voltage-dependent calcium channel gamma-3			T:0.0001	ENSP00000005284		4-Mar	1.65E-05		8.65E-05			1.50E-05			rs147734423,COSM1518653	4-Mar	.		ENST00000005284	Transcript			regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	ENSG00000006116	g.chr16:24366257C>T	1407			LOW								--	--	1																																			0,1	1			p.N133N	NM_006539	NP_006530			0,1	CCG3_HUMAN	CACNG3	HGNC	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)			3	1599	+			UPI000000D979	133					SNV	CACNG3,synonymous_variant,p.=,ENST00000005284,NM_006539.3;	uc002dmf.2	c.399C>T	1601/3088	1	1			c.399C>T						16	SNP	c.(397-399)AAC>AAT	12	12				0	Broad	voltage-dependent calcium channel gamma-3			24366257		0.587	ENSG00000006116	2509	g.chr16:24366257C>T	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity							82.059746	KEEP	18	20	-1	14	26	18	20	-1	82.074971	14	26	0.481481	1	0	0	0	0	0	0	1	0	--	--		0	T				7	GBM-02-2485-TP	p.N133N	C	GCAGACACAACGTCATTCTCA	NM_006539	NP_006530	24366257	O60359	CCG3_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0809)	3	1599	+	T	T			Silent	133						
CACNG3	10368	broad.mit.edu	GRCh37	16	24358110	24358110	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000005284.3:c.267C>T	p.Tyr89=	p.Y89=	ENST00000005284	NM_006539.3	89	taC/taT	0	T:0.0002		1			T	Y	uc002dmf.2	protein_coding	YES	CCDS10620.1			267/948										0	c.(265-267)TAC>TAT			Pfam_domain:PF00822,hmmpanther:PTHR12107,hmmpanther:PTHR12107:SF5	voltage-dependent calcium channel gamma-3			T:0	ENSP00000005284		4-Feb	6.59E-05			0.000116		0.000105			rs368528326,COSM3402200	4-Feb	.		ENST00000005284	Transcript			regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	ENSG00000006116	g.chr16:24358110C>T	1407			LOW								--	--	1																																			0,1	1			p.Y89Y	NM_006539	NP_006530			0,1	CCG3_HUMAN	CACNG3	HGNC	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)			2	1467	+			UPI000000D979	89					SNV	CACNG3,synonymous_variant,p.=,ENST00000005284,NM_006539.3;	uc002dmf.2	c.267C>T	1469/3088	2	2			c.267C>T						16	SNP	c.(265-267)TAC>TAT	35	35				0	Broad	voltage-dependent calcium channel gamma-3			24358110		0.562	ENSG00000006116	2509	g.chr16:24358110C>T	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity							39.495096	KEEP	8	15	-1	47	41	8	15	-1	48.482798	47	41	0.185567	1	0	0	0	0	0	0	1	0	--	--		0	T				46	GBM-06-0209-TP	p.Y89Y	C	ATGCTGACTACGAACAGGACA	NM_006539	NP_006530	24358110	O60359	CCG3_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0809)	2	1467	+	T	T			Silent	89						
CACNG3	0	broad.mit.edu	GRCh37	16	24366270	24366270	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01	TCGA-12-0616-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000005284.3:c.412G>A	p.Ala138Thr	p.A138T	ENST00000005284	NM_006539.3	138	Gcg/Acg	0			1			A	A/T	uc002dmf.2	protein_coding	YES	CCDS10620.1			412/948										0	c.(412-414)GCG>ACG			Pfam_domain:PF00822,hmmpanther:PTHR12107,hmmpanther:PTHR12107:SF5,Transmembrane_helices:TMhelix	voltage-dependent calcium channel gamma-3				ENSP00000005284		4-Mar									COSM271143	4-Mar	.		ENST00000005284	Transcript			regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	ENSG00000006116	g.chr16:24366270G>A	1407			MODERATE		2.575	medium	getma.org/?cm=msa&ty=f&p=CCG3_HUMAN&rb=6&re=196&var=A138T	NA	getma.org/?cm=var&var=hg19,16,24366270,G,A&fts=all	A138T	--	--	1																																			1	1		possibly_damaging(0.698)	p.A138T	NM_006539	NP_006530		deleterious(0.02)	1	CCG3_HUMAN	CACNG3	HGNC	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)			3	1612	+			UPI000000D979	138			Helical; (Potential).		SNV	CACNG3,missense_variant,p.Ala138Thr,ENST00000005284,NM_006539.3;	uc002dmf.2	c.412G>A	1614/3088	2	2			c.412G>A						16	SNP	c.(412-414)GCG>ACG	34	34				0	Broad	voltage-dependent calcium channel gamma-3			24366270		0.572	ENSG00000006116	2509	g.chr16:24366270G>A	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity							85.458803	KEEP	15	21	-1	22	33	15	21	-1	85.979349	22	33	0.408451	1	0	0	0	0	1	0	0	0	--	--		0	A				118	GBM-12-0616-TP	p.A138T	G	CATTCTCAGCGCGGGCATCTT	NM_006539	NP_006530	24366270	O60359	CCG3_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0809)	3	1612	+	A	A			Missense_Mutation	138			Helical; (Potential).			
CACNG3	0	broad.mit.edu	GRCh37	16	24358110	24358110	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-2554-01	TCGA-14-2554-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000005284.3:c.267C>T	p.Tyr89=	p.Y89=	ENST00000005284	NM_006539.3	89	taC/taT	0	T:0.0002		1			T	Y	uc002dmf.2	protein_coding	YES	CCDS10620.1			267/948										0	c.(265-267)TAC>TAT			Pfam_domain:PF00822,hmmpanther:PTHR12107,hmmpanther:PTHR12107:SF5	voltage-dependent calcium channel gamma-3			T:0	ENSP00000005284		4-Feb	6.59E-05			0.000116		0.000105			rs368528326,COSM3402200	4-Feb	.		ENST00000005284	Transcript			regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	ENSG00000006116	g.chr16:24358110C>T	1407			LOW								--	--	1																																			0,1	1			p.Y89Y	NM_006539	NP_006530			0,1	CCG3_HUMAN	CACNG3	HGNC	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)			2	1467	+			UPI000000D979	89					SNV	CACNG3,synonymous_variant,p.=,ENST00000005284,NM_006539.3;	uc002dmf.2	c.267C>T	1469/3088	2	2			c.267C>T						16	SNP	c.(265-267)TAC>TAT	35	35				0	Broad	voltage-dependent calcium channel gamma-3			24358110		0.562	ENSG00000006116	2509	g.chr16:24358110C>T	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity							66.940056	KEEP	10	17	-1	32	37	10	17	-1	70.16584	32	37	0.294118	1	0	0	0	0	0	0	1	0	--	--		0	T				150	GBM-14-2554-TP	p.Y89Y	C	ATGCTGACTACGAACAGGACA	NM_006539	NP_006530	24358110	O60359	CCG3_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0809)	2	1467	+	T	T			Silent	89						
CACNG6	59285	broad.mit.edu	GRCh37	19	54503003	54503003	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-5410-01	TCGA-06-5410-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252729.2:c.522A>G	p.Gly174=	p.G174=	ENST00000252729	NM_145814.1	174	ggA/ggG	0			1			G	G	uc002qct.2	protein_coding	YES	CCDS12870.1			522/783									ovary(2)	2	c.(520-522)GGA>GGG			Pfam_domain:PF13903,hmmpanther:PTHR15025,hmmpanther:PTHR15025:SF6,Transmembrane_helices:TMhelix	voltage-dependent calcium channel gamma-6				ENSP00000252729		4-Mar									COSM3404566	4-Mar	.		ENST00000252729	Transcript				voltage-gated calcium channel complex	voltage-gated calcium channel activity	ENSG00000130433	g.chr19:54503003A>G	13625			LOW								--	--	1																																		CACNG6_uc002qcu.2_Intron|CACNG6_uc002qcv.2_Intron	1	1			p.G174G	NM_145814	NP_665813			1	CCG6_HUMAN	CACNG6	HGNC	Q9BXT2	CCG6_HUMAN		GBM - Glioblastoma multiforme(134;0.168)			3	1112	+	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		UPI0000001276	174			Helical; (Potential).		SNV	CACNG6,synonymous_variant,p.=,ENST00000252729,NM_145814.1;CACNG6,intron_variant,,ENST00000352529,NM_031897.2;CACNG6,intron_variant,,ENST00000346968,NM_145815.1;	uc002qct.2	c.522A>G	1112/1853	3	3			c.522A>G						19	SNP	c.(520-522)GGA>GGG	1	1			ovary(2)	2	Broad	voltage-dependent calcium channel gamma-6			54503003		0.587	ENSG00000130433	2512	g.chr19:54503003A>G		voltage-gated calcium channel complex	voltage-gated calcium channel activity							-51.439778	KEEP	1	4	-1	121	123	1	4	-1	8.3971	121	123	0.021459	1	0	0	0	0	0	0	1	0	--	--		0	G			CACNG6_uc002qcu.2_Intron|CACNG6_uc002qcv.2_Intron	93	GBM-06-5410-TP	p.G174G	A	TCCGAGTTGGAGCCGTCTGCT	NM_145814	NP_665813	54503003	Q9BXT2	CCG6_HUMAN	0		GBM - Glioblastoma multiforme(134;0.168)	3	1112	+	G	G	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		Silent	174			Helical; (Potential).			
CACNG8	59283	broad.mit.edu	GRCh37	19	54466519	54466519	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-06-2567-01	TCGA-06-2567-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000270458.2:c.123T>G	p.Thr41=	p.T41=	ENST00000270458	NM_031895.5	41	acT/acG	0			1			G	T	uc002qcs.1	protein_coding	YES	CCDS33104.1			123/1278										0	c.(118-120)ACT>ACG			Pfam_domain:PF00822,Prints_domain:PR01792,hmmpanther:PTHR12107,hmmpanther:PTHR12107:SF2	voltage-dependent calcium channel gamma-8				ENSP00000270458		4-Jan									COSM2153091	4-Jan	.		ENST00000270458	Transcript			regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	ENSG00000142408	g.chr19:54466519T>G	13628			LOW								--	--	1																																			1	1			p.T40T	NM_031895	NP_114101			1	CCG8_HUMAN	CACNG8	HGNC	Q8WXS5	CCG8_HUMAN		GBM - Glioblastoma multiforme(134;0.162)			1	226	+	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)		UPI000013D88B	41					SNV	CACNG8,synonymous_variant,p.=,ENST00000270458,NM_031895.5;	uc002qcs.1	c.120T>G	226/8747	3	3			c.120T>G						19	SNP	c.(118-120)ACT>ACG	5	5				0	Broad	voltage-dependent calcium channel gamma-8			54466519		0.711	ENSG00000142408	2514	g.chr19:54466519T>G	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity							28.609347	KEEP	7	6	-1	12	17	7	6	-1	29.969496	12	17	0.297297	1	0	0	0	0	0	0	1	0	--	--		0	G				89	GBM-06-2567-TP	p.T40T	T	CCATCAGCACTGACTACTGGC	NM_031895	NP_114101	54466519	Q8WXS5	CCG8_HUMAN	0		GBM - Glioblastoma multiforme(134;0.162)	1	226	+	G	G	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)		Silent	41						
CACUL1	143384	broad.mit.edu	GRCh37	10	120513921	120513923	+	inframe_deletion	In_Frame_Del	DEL	GGA	GGA	-			TCGA-06-0129-01	TCGA-06-0129-01	GGA	GGA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369151.3:c.352_354del	p.Ser118del	p.S118del	ENST00000369151	NM_153810.4	118	TCC/-	0			1			-	S/-	uc001lds.1	protein_coding	YES	CCDS41570.1			352-354/1110										0	c.(352-354)TCCdel			Low_complexity_(Seg):seg,hmmpanther:PTHR11932,hmmpanther:PTHR11932:SF67	chromosome 10 open reading frame 46				ENSP00000358147		9-Jan										9-Jan	.		ENST00000369151	Transcript			ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	ENSG00000151893	g.chr10:120513921_120513923delGGA	23727			MODERATE								--	--	1																																		C10orf46_uc010qst.1_RNA		1			p.S118del	NM_153810	NP_722517				CACL1_HUMAN	CACUL1	HGNC	Q86Y37	CJ046_HUMAN		all cancers(201;0.0131)			1	836_838	-		Lung NSC(174;0.142)|all_lung(145;0.175)	UPI000000DCD0	118					deletion	CACUL1,inframe_deletion,p.Ser118del,ENST00000369151,NM_153810.4;CACUL1,inframe_deletion,p.Ser118del,ENST00000340214,;CACUL1,inframe_deletion,p.Ser118del,ENST00000493518,;CACUL1,non_coding_transcript_exon_variant,,ENST00000477583,;	uc001lds.1	c.352_354delTCC	836-838/6733	5	5			c.352_354delTCC						10	DEL	c.(352-354)TCCdel	33	33				0	Broad	chromosome 10 open reading frame 46			120513923		0.621	ENSG00000151893	1570	g.chr10:120513921_120513923delGGA	ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding																				0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			C10orf46_uc010qst.1_RNA	15	GBM-06-0129-TP	p.S118del	GGA	ACTTGGAGGTGGAGGTGTTGATG	NM_153810	NP_722517	120513921	Q86Y37	CJ046_HUMAN	0		all cancers(201;0.0131)	1	836_838	-	-	-		Lung NSC(174;0.142)|all_lung(145;0.175)	In_Frame_Del	118						
CAD	790	broad.mit.edu	GRCh37	2	27459352	27459352	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5408-01	TCGA-06-5408-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264705.4:c.4275C>T	p.Pro1425=	p.P1425=	ENST00000264705	NM_004341.3	1425	ccC/ccT	0			1			T	P	uc002rji.2	protein_coding	YES	CCDS1742.1			4275/6678									ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	c.(4273-4275)CCC>CCT			Gene3D:3.40.50.1380,Pfam_domain:PF02142,hmmpanther:PTHR11405,hmmpanther:PTHR11405:SF5,SMART_domains:SM00851,Superfamily_domains:SSF52335,TIGRFAM_domain:TIGR01369	carbamoylphosphate synthetase 2/aspartate	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)			ENSP00000264705		26/44									COSM3407787	26/44	.		ENST00000264705	Transcript			'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	ENSG00000084774	g.chr2:27459352C>T	1424			LOW								--	--	1																																		CAD_uc010eyw.2_Silent_p.P1362P	1	1			p.P1425P	NM_004341	NP_004332			1	PYR1_HUMAN	CAD	HGNC	P27708	PYR1_HUMAN			Q53SZ4_HUMAN,Q53SY7_HUMAN,G1UI39_HUMAN		26	4437	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		UPI000013D558	1425			CPSase B.|CPSase (Carbamoyl-phosphate synthase).		SNV	CAD,synonymous_variant,p.=,ENST00000264705,NM_004341.3;CAD,synonymous_variant,p.=,ENST00000403525,;CAD,synonymous_variant,p.=,ENST00000458503,;CAD,upstream_gene_variant,,ENST00000456311,;CAD,downstream_gene_variant,,ENST00000464159,;CAD,upstream_gene_variant,,ENST00000491461,;CAD,upstream_gene_variant,,ENST00000487239,;CAD,downstream_gene_variant,,ENST00000475695,;CAD,downstream_gene_variant,,ENST00000491891,;CAD,downstream_gene_variant,,ENST00000479002,;	uc002rji.2	c.4275C>T	4437/7265	1	1			c.4275C>T						2	SNP	c.(4273-4275)CCC>CCT	8	8			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Broad	carbamoylphosphate synthetase 2/aspartate		L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	27459352		0.557	ENSG00000084774	2516	g.chr2:27459352C>T	'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			653			653	127.259569	KEEP	23	24	-1	29	29	23	24	-1	127.593524	29	29	0.43617	1	0	0	0	0	0	0	1	0	--	--		0	T			CAD_uc010eyw.2_Silent_p.P1362P	92	GBM-06-5408-TP	p.P1425P	C	TCTCCGTGCCCCTAATCATCG	NM_004341	NP_004332	27459352	P27708	PYR1_HUMAN	0			26	4437	+	T	T	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Silent	1425			CPSase B.|CPSase (Carbamoyl-phosphate synthase).			
CAD	0	broad.mit.edu	GRCh37	2	27465785	27465785	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-0786-01	TCGA-14-0786-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264705.4:c.6424C>A	p.Leu2142Ile	p.L2142I	ENST00000264705	NM_004341.3	2142	Ctc/Atc	0			1			A	L/I	uc002rji.2	protein_coding	YES	CCDS1742.1			6424/6678									ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	c.(6424-6426)CTC>ATC			Gene3D:3.40.50.1370,HAMAP:MF_00001,Pfam_domain:PF00185,Prints_domain:PR00101,hmmpanther:PTHR11405,hmmpanther:PTHR11405:SF5,Superfamily_domains:SSF53671,TIGRFAM_domain:TIGR00670	carbamoylphosphate synthetase 2/aspartate	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)			ENSP00000264705		42/44									COSM3407789	42/44	.		ENST00000264705	Transcript			'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	ENSG00000084774	g.chr2:27465785C>A	1424			MODERATE		1.565	low	getma.org/?cm=msa&ty=f&p=PYR1_HUMAN&rb=2071&re=2221&var=L2142I	getma.org/pdb.php?prot=PYR1_HUMAN&from=2071&to=2221&var=L2142I	getma.org/?cm=var&var=hg19,2,27465785,C,A&fts=all	L2142I	--	--	1																																		CAD_uc010eyw.2_Missense_Mutation_p.L2079I	1	1		possibly_damaging(0.597)	p.L2142I	NM_004341	NP_004332		deleterious(0.05)	1	PYR1_HUMAN	CAD	HGNC	P27708	PYR1_HUMAN			Q53SZ4_HUMAN,Q53SY7_HUMAN,G1UI39_HUMAN		42	6586	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		UPI000013D558	2142			ATCase (Aspartate transcarbamylase).		SNV	CAD,missense_variant,p.Leu2142Ile,ENST00000264705,NM_004341.3;CAD,missense_variant,p.Leu2079Ile,ENST00000403525,;CAD,missense_variant,p.Leu210Ile,ENST00000428460,;CAD,downstream_gene_variant,,ENST00000456311,;CAD,downstream_gene_variant,,ENST00000458503,;CAD,downstream_gene_variant,,ENST00000491461,;CAD,downstream_gene_variant,,ENST00000487239,;	uc002rji.2	c.6424C>A	6586/7265	1	1			c.6424C>A						2	SNP	c.(6424-6426)CTC>ATC	56	56			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Broad	carbamoylphosphate synthetase 2/aspartate		L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	27465785		0.582	ENSG00000084774	2516	g.chr2:27465785C>A	'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			653			653	87.584002	KEEP	9	21	0.7	18	23	9	21	0.7	87.703664	18	23	0.453125	1	0	0	0	0	1	0	0	0	--	--		0	A			CAD_uc010eyw.2_Missense_Mutation_p.L2079I	134	GBM-14-0786-TP	p.L2142I	C	CACTGATGTGCTCTACATGAC	NM_004341	NP_004332	27465785	P27708	PYR1_HUMAN	0			42	6586	+	A	A	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Missense_Mutation	2142			ATCase (Aspartate transcarbamylase).			
CADM3	57863	broad.mit.edu	GRCh37	1	159162382	159162382	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-2562-01	TCGA-06-2562-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368124.4:c.346C>T	p.Arg116Ter	p.R116*	ENST00000368124	NM_021189.3	116	Cga/Tga	0			1			T	R/*	uc001ftl.2	protein_coding		CCDS44251.1			244/1197									ovary(2)	2	c.(244-246)CGA>TGA			Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF57,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	cell adhesion molecule 3 isoform 2				ENSP00000357107		9-Mar									COSM3399869	9-Mar	.		ENST00000368125	Transcript			adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	ENSG00000162706	g.chr1:159162382C>T	17601			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,159162382,C,T&fts=all	R82*	--	--	1																																		CADM3_uc009wsx.1_Nonsense_Mutation_p.R116*|CADM3_uc009wsy.1_Nonsense_Mutation_p.R82*|CADM3_uc001ftk.2_Nonsense_Mutation_p.R116*	1				p.R82*	NM_001127173	NP_001120645			1	CADM3_HUMAN	CADM3	HGNC	Q8N126	CADM3_HUMAN					3	386	+	all_hematologic(112;0.0429)		UPI0000031579	82			Ig-like V-type.|Extracellular (Potential).		SNV	CADM3,stop_gained,p.Arg82Ter,ENST00000368125,NM_001127173.1;CADM3,stop_gained,p.Arg116Ter,ENST00000368124,NM_021189.3;CADM3,stop_gained,p.Arg82Ter,ENST00000416746,;CTA-134P22.2,downstream_gene_variant,,ENST00000415675,;CADM3,upstream_gene_variant,,ENST00000497636,;	uc001ftl.2	c.244C>T	401/3745	5	2			c.244C>T						1	SNP	c.(244-246)CGA>TGA	44	44			ovary(2)	2	Broad	cell adhesion molecule 3 isoform 2			159162382		0.512	ENSG00000162706	2519	g.chr1:159162382C>T	adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity							-18.638609	KEEP	4	2	-1	62	76	4	2	-1	10.721347	62	76	0.039062	1	0	0	0	0	0	1	0	0	--	--		0	T			CADM3_uc009wsx.1_Nonsense_Mutation_p.R116*|CADM3_uc009wsy.1_Nonsense_Mutation_p.R82*|CADM3_uc001ftk.2_Nonsense_Mutation_p.R116*	85	GBM-06-2562-TP	p.R82*	C	TCGAGATAATCGAATTCAGCT	NM_001127173	NP_001120645	159162382	Q8N126	CADM3_HUMAN	0			3	386	+	T	T	all_hematologic(112;0.0429)		Nonsense_Mutation	82			Ig-like V-type.|Extracellular (Potential).			
CADPS	8618	broad.mit.edu	GRCh37	3	62860671	62860671	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0184-01	TCGA-06-0184-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000383710.4:c.34G>C	p.Asp12His	p.D12H	ENST00000383710	NM_003716.3	12	Gat/Cat	0			1			G	D/H	uc003dll.2	protein_coding	YES	CCDS46858.1			34/4062									central_nervous_system(2)|ovary(1)	3	c.(34-36)GAT>CAT			Low_complexity_(Seg):seg,hmmpanther:PTHR12166:SF5,hmmpanther:PTHR12166	Ca2+-dependent secretion activator isoform 1				ENSP00000373215		30-Jan									COSM3408856,COSM3408855	30-Jan	.		ENST00000383710	Transcript			exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	ENSG00000163618	g.chr3:62860671C>G	1426			MODERATE		2.16	medium	getma.org/?cm=msa&ty=f&p=CAPS1_HUMAN&rb=1&re=200&var=D12H	NA	getma.org/?cm=var&var=hg19,3,62860671,C,G&fts=all	D12H	--	--	1																																		CADPS_uc003dlm.2_Missense_Mutation_p.D12H|CADPS_uc003dln.2_Missense_Mutation_p.D12H	1,1	1		unknown(0)	p.D12H	NM_003716	NP_003707		deleterious_low_confidence(0.01)	1,1	CAPS1_HUMAN	CADPS	HGNC	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)			1	394	-		Lung SC(41;0.0452)	UPI00001C036A	12					SNV	CADPS,missense_variant,p.Asp12His,ENST00000383710,NM_003716.3;CADPS,missense_variant,p.Asp12His,ENST00000357948,NM_183393.2;CADPS,missense_variant,p.Asp12His,ENST00000283269,NM_183394.2;CADPS,missense_variant,p.Asp12His,ENST00000490353,;	uc003dll.2	c.34G>C	384/5471	3	3			c.34G>C						3	SNP	c.(34-36)GAT>CAT	16	16			central_nervous_system(2)|ovary(1)	3	Broad	Ca2+-dependent secretion activator isoform 1			62860671		0.697	ENSG00000163618	2521	g.chr3:62860671C>G	exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding							22.9788	KEEP	2	8	-1	19	24	2	8	-1	25.924075	19	24	0.210526	1	0	0	0	0	1	0	0	0	--	--		0	G			CADPS_uc003dlm.2_Missense_Mutation_p.D12H|CADPS_uc003dln.2_Missense_Mutation_p.D12H	39	GBM-06-0184-TP	p.D12H	C	ACGATCTCATCCGATTCTTCT	NM_003716	NP_003707	62860671	Q9ULU8	CAPS1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	1	394	-	G	G		Lung SC(41;0.0452)	Missense_Mutation	12						
CADPS	0	broad.mit.edu	GRCh37	3	62423805	62423805	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01	TCGA-06-6695-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000383710.4:c.3751G>A	p.Glu1251Lys	p.E1251K	ENST00000383710	NM_003716.3	1251	Gag/Aag	0			1			T	E/K	uc003dll.2	protein_coding	YES	CCDS46858.1			3751/4062									central_nervous_system(2)|ovary(1)	3	c.(3751-3753)GAG>AAG			hmmpanther:PTHR12166:SF5,hmmpanther:PTHR12166	Ca2+-dependent secretion activator isoform 1				ENSP00000373215		28/30									COSM3408851,COSM3408850	28/30	.		ENST00000383710	Transcript			exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	ENSG00000163618	g.chr3:62423805C>T	1426			MODERATE		2.765	medium	getma.org/?cm=msa&ty=f&p=CAPS1_HUMAN&rb=1141&re=1340&var=E1251K	NA	getma.org/?cm=var&var=hg19,3,62423805,C,T&fts=all	E1251K	--	--	1																																		CADPS_uc003dlj.1_Missense_Mutation_p.E206K|CADPS_uc003dlk.1_Missense_Mutation_p.E699K|CADPS_uc003dlm.2_Missense_Mutation_p.E1212K|CADPS_uc003dln.2_Missense_Mutation_p.E1172K	1,1	1		benign(0.292)	p.E1251K	NM_003716	NP_003707		deleterious(0)	1,1	CAPS1_HUMAN	CADPS	HGNC	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)			28	4111	-		Lung SC(41;0.0452)	UPI00001C036A	1251			Mediates targeting and association with DCVs (By similarity).		SNV	CADPS,missense_variant,p.Glu1251Lys,ENST00000383710,NM_003716.3;CADPS,missense_variant,p.Glu1172Lys,ENST00000357948,NM_183393.2;CADPS,missense_variant,p.Glu1212Lys,ENST00000283269,NM_183394.2;CADPS,missense_variant,p.Glu243Lys,ENST00000473635,;CADPS,missense_variant,p.Glu152Lys,ENST00000466621,;CADPS,non_coding_transcript_exon_variant,,ENST00000474560,;	uc003dll.2	c.3751G>A	4101/5471	1	1			c.3751G>A						3	SNP	c.(3751-3753)GAG>AAG	4	4			central_nervous_system(2)|ovary(1)	3	Broad	Ca2+-dependent secretion activator isoform 1			62423805		0.458	ENSG00000163618	2521	g.chr3:62423805C>T	exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding							59.925237	KEEP	12	13	-1	26	27	12	13	-1	61.805672	26	27	0.323529	1	0	0	0	0	1	0	0	0	--	--		0	T			CADPS_uc003dlj.1_Missense_Mutation_p.E206K|CADPS_uc003dlk.1_Missense_Mutation_p.E699K|CADPS_uc003dlm.2_Missense_Mutation_p.E1212K|CADPS_uc003dln.2_Missense_Mutation_p.E1172K	110	GBM-06-6695-TP	p.E1251K	C	ATGTACATCTCCTCATTGACC	NM_003716	NP_003707	62423805	Q9ULU8	CAPS1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	28	4111	-	T	T		Lung SC(41;0.0452)	Missense_Mutation	1251			Mediates targeting and association with DCVs (By similarity).			
CADPS	8618		GRCh37	3	62467450	62467450	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000383710.4:c.3121C>A	p.Gln1041Lys	p.Q1041K	ENST00000383710	NM_003716.3	1041	Caa/Aaa	0																																																																																																																																																																																																																																												
CADPS2	93664	broad.mit.edu	GRCh37	7	122261662	122261662	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-01	TCGA-06-0190-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449022.2:c.977C>T	p.Ser326Leu	p.S326L	ENST00000449022	NM_017954.10	326	tCg/tTg	0	A:0		1			A	S/L	uc010lkp.2	protein_coding	YES	CCDS55158.1			977/3891									ovary(1)|central_nervous_system(1)	2	c.(976-978)TCG>TTG			hmmpanther:PTHR12166,hmmpanther:PTHR12166:SF3	Ca2+-dependent activator protein for secretion 2			A:0.0002	ENSP00000398481		30-May	0.000174		8.67E-05			0.000285		6.06E-05	rs372372999,COSM1739379,COSM3411531	30-May	.		ENST00000449022	Transcript			exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	ENSG00000081803	g.chr7:122261662G>A	16018			MODERATE		1.91	medium	getma.org/?cm=msa&ty=f&p=CAPS2_HUMAN&rb=201&re=400&var=S326L	NA	getma.org/?cm=var&var=hg19,7,122261662,G,A&fts=all	S326L	--	--	1																																		CADPS2_uc003vkg.3_Missense_Mutation_p.S26L|CADPS2_uc010lkq.2_Missense_Mutation_p.S326L	0,1,1	1		possibly_damaging(0.716)	p.S326L	NM_017954	NP_060424		deleterious(0.04)	0,1,1	CAPS2_HUMAN	CADPS2	HGNC	Q86UW7	CAPS2_HUMAN			B3KNS2_HUMAN		5	1140	-			UPI0000668808	326					SNV	CADPS2,missense_variant,p.Ser326Leu,ENST00000334010,NM_001167940.1;CADPS2,missense_variant,p.Ser326Leu,ENST00000313070,;CADPS2,missense_variant,p.Ser326Leu,ENST00000412584,NM_001009571.3;CADPS2,missense_variant,p.Ser326Leu,ENST00000449022,NM_017954.10;CADPS2,upstream_gene_variant,,ENST00000397721,;	uc010lkp.2	c.977C>T	997/4073	2	2			c.977C>T						7	SNP	c.(976-978)TCG>TTG	39	39			ovary(1)|central_nervous_system(1)	2	Broad	Ca2+-dependent activator protein for secretion 2			122261662		0.363	ENSG00000081803	2522	g.chr7:122261662G>A	exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding							73.099182	KEEP	23	15	-1	76	99	23	15	-1	92.810841	76	99	0.175879	1	0	0	0	0	1	0	0	0	--	--		0	A			CADPS2_uc003vkg.3_Missense_Mutation_p.S26L|CADPS2_uc010lkq.2_Missense_Mutation_p.S326L	43	GBM-06-0190-TP	p.S326L	G	ACCACCTTTCGAAACTGGAAG	NM_017954	NP_060424	122261662	Q86UW7	CAPS2_HUMAN	0			5	1140	-	A	A			Missense_Mutation	326						
CADPS2	0	broad.mit.edu	GRCh37	7	121960313	121960313	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0781-01	TCGA-14-0781-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449022.2:c.3797G>A	p.Arg1266His	p.R1266H	ENST00000449022	NM_017954.10	1266	cGt/cAt	0			1			T	R/H	uc010lkp.2	protein_coding	YES	CCDS55158.1			3797/3891									ovary(1)|central_nervous_system(1)	2	c.(3796-3798)CGT>CAT			hmmpanther:PTHR12166,hmmpanther:PTHR12166:SF3	Ca2+-dependent activator protein for secretion 2				ENSP00000398481		30/30									COSM3411529,COSM3411530	30/30	.		ENST00000449022	Transcript			exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	ENSG00000081803	g.chr7:121960313C>T	16018			MODERATE		2.705	medium	getma.org/?cm=msa&ty=f&p=CAPS2_HUMAN&rb=1095&re=1294&var=R1266H	NA	getma.org/?cm=var&var=hg19,7,121960313,C,T&fts=all	R1266H	--	--	1																																		CADPS2_uc011knx.1_Missense_Mutation_p.R641H|CADPS2_uc003vkg.3_Missense_Mutation_p.R920H|CADPS2_uc010lkq.2_Missense_Mutation_p.R1225H	1,1	1		probably_damaging(0.999)	p.R1266H	NM_017954	NP_060424		deleterious(0)	1,1	CAPS2_HUMAN	CADPS2	HGNC	Q86UW7	CAPS2_HUMAN			B3KNS2_HUMAN		29	3960	-			UPI0000668808	1266					SNV	CADPS2,missense_variant,p.Arg1264His,ENST00000334010,NM_001167940.1;CADPS2,missense_variant,p.Arg1225His,ENST00000313070,;CADPS2,missense_variant,p.Arg1225His,ENST00000412584,NM_001009571.3;CADPS2,missense_variant,p.Arg1266His,ENST00000449022,NM_017954.10;CADPS2,missense_variant,p.Arg869His,ENST00000397721,;CADPS2,missense_variant,p.Arg460His,ENST00000462699,;	uc010lkp.2	c.3797G>A	3817/4073	2	2			c.3797G>A						7	SNP	c.(3796-3798)CGT>CAT	25	25			ovary(1)|central_nervous_system(1)	2	Broad	Ca2+-dependent activator protein for secretion 2			121960313		0.433	ENSG00000081803	2522	g.chr7:121960313C>T	exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding							23.553609	KEEP	4	12	-1	36	58	4	12	-1	35.996006	36	58	0.145631	1	0	0	0	0	1	0	0	0	--	--		0	T			CADPS2_uc011knx.1_Missense_Mutation_p.R641H|CADPS2_uc003vkg.3_Missense_Mutation_p.R920H|CADPS2_uc010lkq.2_Missense_Mutation_p.R1225H	133	GBM-14-0781-TP	p.R1266H	C	TACTGTTAAACGTCTGTGCAC	NM_017954	NP_060424	121960313	Q86UW7	CAPS2_HUMAN	0			29	3960	-	T	T			Missense_Mutation	1266						
CAGE1	0	broad.mit.edu	GRCh37	6	7370288	7370288	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01	TCGA-76-4934-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000512086.1:c.1757C>T	p.Thr586Met	p.T586M	ENST00000512086		586	aCg/aTg	0			1			A	T/M	uc003mxi.2	protein_coding					1757/2334										0	c.(1348-1350)ACG>ATG				cancer antigen 1				ENSP00000427583		12-Jun	1.66E-05					1.51E-05		6.20E-05	rs767515041,COSM3411258,COSM3411257,COSM3411256	12-Jun	.		ENST00000512086	Transcript						ENSG00000164304	g.chr6:7370288G>A	21622			MODERATE		-1.245	neutral	getma.org/?cm=msa&ty=f&p=CAGE1_HUMAN&rb=1&re=776&var=T586M	NA	getma.org/?cm=var&var=hg19,6,7370288,G,A&fts=all	T586M	--	--	1																																		CAGE1_uc003mxh.2_RNA|CAGE1_uc003mxj.2_Missense_Mutation_p.T341M|CAGE1_uc003mxk.1_Missense_Mutation_p.T341M	0,1,1,1			benign(0.001)	p.T450M	NM_205864	NP_995586		tolerated(1)	0,1,1,1	CAGE1_HUMAN	CAGE1	HGNC	Q8TC20	CAGE1_HUMAN					5	2070	-	Ovarian(93;0.0418)		UPI0000F3BE14	586					SNV	CAGE1,missense_variant,p.Thr586Met,ENST00000502583,NM_001170692.1;CAGE1,missense_variant,p.Thr586Met,ENST00000379918,;CAGE1,missense_variant,p.Thr450Met,ENST00000296742,NM_205864.2;CAGE1,missense_variant,p.Thr586Met,ENST00000338150,NM_001170693.1;CAGE1,missense_variant,p.Thr586Met,ENST00000512086,;CAGE1,downstream_gene_variant,,ENST00000512691,;CAGE1,downstream_gene_variant,,ENST00000509324,;CAGE1,missense_variant,p.Thr586Met,ENST00000458291,;CAGE1,3_prime_UTR_variant,,ENST00000442019,;	uc003mxi.2	c.1349C>T	1960/2537	1	1			c.1349C>T						6	SNP	c.(1348-1350)ACG>ATG	49	49				0	Broad	cancer antigen 1			7370288		0.378	ENSG00000164304	2523	g.chr6:7370288G>A										102.604957	KEEP	22	17	-1	33	27	22	17	-1	103.410748	33	27	0.397727	1	0	0	0	0	1	0	0	0	--	--		0	A			CAGE1_uc003mxh.2_RNA|CAGE1_uc003mxj.2_Missense_Mutation_p.T341M|CAGE1_uc003mxk.1_Missense_Mutation_p.T341M	272	GBM-76-4934-TP	p.T450M	G	AGAATGTGTCGTTTTTGTATC	NM_205864	NP_995586	7370288	Q8TC20	CAGE1_HUMAN	0			5	2070	-	A	A	Ovarian(93;0.0418)		Missense_Mutation	586						
CALB1	0	broad.mit.edu	GRCh37	8	91094855	91094855	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-2502-01	TCGA-28-2502-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265431.3:c.71A>G	p.Asp24Gly	p.D24G	ENST00000265431	NM_004929.2	24	gAc/gGc	0			1			C	D/G	uc003yel.1	protein_coding	YES	CCDS6251.1			71/786									pancreas(1)	1	c.(70-72)GAC>GGC			PROSITE_profiles:PS50222,hmmpanther:PTHR19972,hmmpanther:PTHR19972:SF3,PROSITE_patterns:PS00018,Pfam_domain:PF13405,Gene3D:1.10.238.10,SMART_domains:SM00054,Superfamily_domains:SSF47473	calbindin 1				ENSP00000265431		11-Jan									COSM3413156	11-Jan	.		ENST00000265431	Transcript				nucleus	calcium ion binding|vitamin D binding	ENSG00000104327	g.chr8:91094855T>C	1434			MODERATE		3.245	medium	getma.org/?cm=msa&ty=f&p=CALB1_HUMAN&rb=15&re=48&var=D24G	getma.org/pdb.php?prot=CALB1_HUMAN&from=15&to=48&var=D24G	getma.org/?cm=var&var=hg19,8,91094855,T,C&fts=all	D24G	--	--	1																																		CALB1_uc003yem.1_Intron|CALB1_uc011lge.1_5'Flank	1	1		possibly_damaging(0.815)	p.D24G	NM_004929	NP_004920		deleterious(0)	1	CALB1_HUMAN	CALB1	HGNC	P05937	CALB1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00953)		O75552_HUMAN,E5RIZ8_HUMAN,E5RG14_HUMAN,B7Z9J4_HUMAN		1	253	-			UPI000013D620	24			1.|EF-hand 1.		SNV	CALB1,missense_variant,p.Asp24Gly,ENST00000265431,NM_004929.2;CALB1,intron_variant,,ENST00000523716,;CALB1,intron_variant,,ENST00000514406,;CALB1,intron_variant,,ENST00000520613,;CALB1,upstream_gene_variant,,ENST00000518457,;CALB1,non_coding_transcript_exon_variant,,ENST00000482702,;CALB1,upstream_gene_variant,,ENST00000473670,;CALB1,upstream_gene_variant,,ENST00000476853,;	uc003yel.1	c.71A>G	253/2533	3	3			c.71A>G						8	SNP	c.(70-72)GAC>GGC	49	49			pancreas(1)	1	Broad	calbindin 1			91094855		0.502	ENSG00000104327	2524	g.chr8:91094855T>C		nucleus	calcium ion binding|vitamin D binding	Melanoma(46;573 1182 27367 39727 48386)			Melanoma(46;573 1182 27367 39727 48386)			-44.734901	KEEP	1	2	-1	109	105	1	2	-1	6.324234	109	105	0.015625	1	0	0	0	0	1	0	0	0	--	--		0	C			CALB1_uc003yem.1_Intron|CALB1_uc011lge.1_5'Flank	210	GBM-28-2502-TP	p.D24G	T	ACCGTCAGCGTCGAAATGGAG	NM_004929	NP_004920	91094855	P05937	CALB1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(11;0.00953)		1	253	-	C	C			Missense_Mutation	24			1.|EF-hand 1.			
CALCA	0	broad.mit.edu	GRCh37	11	14991572	14991572	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331587.4:c.136G>A	p.Glu46Lys	p.E46K	ENST00000331587	NM_001741.2	46	Gaa/Aaa	0			1			T	E/K	uc001mlt.1	protein_coding	YES	CCDS7819.1			136/426									central_nervous_system(1)	1	c.(136-138)GAA>AAA			hmmpanther:PTHR10505,hmmpanther:PTHR10505:SF9,Pfam_domain:PF00214	calcitonin isoform CGRP preproprotein	Phentolamine(DB00692)			ENSP00000331746		4-Mar	8.24E-06							6.08E-05	rs782339903,COSM2157467,COSM2157468	4-Mar	.		ENST00000331587	Transcript			activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity	ENSG00000110680	g.chr11:14991572C>T	1437			MODERATE		1.99	medium	getma.org/?cm=msa&ty=f&p=CALC_HUMAN&rb=1&re=123&var=E46K	NA	getma.org/?cm=var&var=hg19,11,14991572,C,T&fts=all	E46K	--	--	1																																OREG0020791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	CALCA_uc001mlu.1_RNA|CALCA_uc001mlv.1_Missense_Mutation_p.E46K|CALCA_uc001mlw.1_Missense_Mutation_p.E46K	0,1,1	1		possibly_damaging(0.901)	p.E46K	NM_001033953	NP_001029125		deleterious(0.02)	0,1,1	CALC_HUMAN	CALCA	HGNC	P06881	CALCA_HUMAN					3	211	-			UPI00001AFED8	46					SNV	CALCA,missense_variant,p.Glu46Lys,ENST00000361010,NM_001033953.2;CALCA,missense_variant,p.Glu46Lys,ENST00000486207,;CALCA,missense_variant,p.Glu46Lys,ENST00000331587,NM_001741.2;CALCA,missense_variant,p.Glu46Lys,ENST00000396372,NM_001033952.2;CALCA,missense_variant,p.Glu46Lys,ENST00000359642,;CALCB,intron_variant,,ENST00000523376,;CALCA,missense_variant,p.Glu46Lys,ENST00000469608,;CALCA,upstream_gene_variant,,ENST00000494746,;	uc001mlt.1	c.136G>A	255/843	2	2			c.136G>A						11	SNP	c.(136-138)GAA>AAA	19	19			central_nervous_system(1)	1	Broad	calcitonin isoform CGRP preproprotein		Phentolamine(DB00692)	14991572		0.642	ENSG00000110680	2526	g.chr11:14991572C>T	activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity							180.078128	KEEP	30	32	-1	34	22	30	32	-1	180.333173	34	22	0.553398	1	0	0	0	0	1	0	0	0	--	--		0	T	OREG0020791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	CALCA_uc001mlu.1_RNA|CALCA_uc001mlv.1_Missense_Mutation_p.E46K|CALCA_uc001mlw.1_Missense_Mutation_p.E46K	265	GBM-76-4925-TP	p.E46K	C	AGGCGCGCTTCGTCCTCACTG	NM_001033953	NP_001029125	14991572	P06881	CALCA_HUMAN	0			3	211	-	T	T			Missense_Mutation	46						
CALCOCO1	0	broad.mit.edu	GRCh37	12	54117525	54117525	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01	TCGA-41-3392-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000550804.1:c.302G>A	p.Arg101Gln	p.R101Q	ENST00000550804		101	cGa/cAa	0			1			T	R/Q	uc001sef.2	protein_coding	YES	CCDS8864.1			302/2076									ovary(1)	1	c.(301-303)CGA>CAA			Pfam_domain:PF07888,hmmpanther:PTHR31915,hmmpanther:PTHR31915:SF5	coiled-coil transcriptional coactivator isoform				ENSP00000449960		15-Apr	8.24E-06					1.50E-05			rs747890587,COSM1933386	15-Apr	.		ENST00000550804	Transcript			steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	ENSG00000012822	g.chr12:54117525C>T	29306			MODERATE		1.24	low	getma.org/?cm=msa&ty=f&p=CACO1_HUMAN&rb=9&re=596&var=R101Q	NA	getma.org/?cm=var&var=hg19,12,54117525,C,T&fts=all	R101Q	--	--	1																																		CALCOCO1_uc010som.1_Intron|CALCOCO1_uc010son.1_5'UTR|CALCOCO1_uc001seh.2_Missense_Mutation_p.R101Q|CALCOCO1_uc009znd.2_Missense_Mutation_p.R101Q|CALCOCO1_uc001seg.2_Intron|CALCOCO1_uc010soo.1_Missense_Mutation_p.R94Q	0,1	1		probably_damaging(0.981)	p.R101Q	NM_020898	NP_065949		tolerated(0.06)	0,1	CACO1_HUMAN	CALCOCO1	HGNC	Q9P1Z2	CACO1_HUMAN			F8W0X2_HUMAN,F8VZI3_HUMAN,F8VWP8_HUMAN,F8VUB3_HUMAN,F8VRQ9_HUMAN,F8VQE3_HUMAN,F8VPN1_HUMAN		4	446	-			UPI0000037D7A	101			N-terminal AD (CTNNB1 binding site) (By similarity).		SNV	CALCOCO1,missense_variant,p.Arg101Gln,ENST00000548263,;CALCOCO1,missense_variant,p.Arg101Gln,ENST00000262059,NM_020898.2;CALCOCO1,missense_variant,p.Arg101Gln,ENST00000550804,;CALCOCO1,missense_variant,p.Arg101Gln,ENST00000549784,;CALCOCO1,missense_variant,p.Arg101Gln,ENST00000549349,;CALCOCO1,missense_variant,p.Arg101Gln,ENST00000548177,;CALCOCO1,missense_variant,p.Arg101Gln,ENST00000551900,;CALCOCO1,missense_variant,p.Arg121Gln,ENST00000549173,;CALCOCO1,missense_variant,p.Arg101Gln,ENST00000552623,;CALCOCO1,missense_variant,p.Arg101Gln,ENST00000549688,;CALCOCO1,missense_variant,p.Arg101Gln,ENST00000546619,;CALCOCO1,intron_variant,,ENST00000430117,NM_001143682.1;CALCOCO1,non_coding_transcript_exon_variant,,ENST00000547949,;CALCOCO1,downstream_gene_variant,,ENST00000547885,;CALCOCO1,non_coding_transcript_exon_variant,,ENST00000549935,;CALCOCO1,non_coding_transcript_exon_variant,,ENST00000547988,;CALCOCO1,non_coding_transcript_exon_variant,,ENST00000553154,;CALCOCO1,downstream_gene_variant,,ENST00000546774,;CALCOCO1,downstream_gene_variant,,ENST00000548431,;CALCOCO1,upstream_gene_variant,,ENST00000552282,;	uc001sef.2	c.302G>A	363/2291	2	2			c.302G>A						12	SNP	c.(301-303)CGA>CAA	43	43			ovary(1)	1	Broad	coiled-coil transcriptional coactivator isoform			54117525		0.602	ENSG00000012822	2528	g.chr12:54117525C>T	steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding							78.041899	KEEP	17	11	-1	25	19	17	11	-1	78.608707	25	19	0.4	1	0	0	0	0	1	0	0	0	--	--		0	T			CALCOCO1_uc010som.1_Intron|CALCOCO1_uc010son.1_5'UTR|CALCOCO1_uc001seh.2_Missense_Mutation_p.R101Q|CALCOCO1_uc009znd.2_Missense_Mutation_p.R101Q|CALCOCO1_uc001seg.2_Intron|CALCOCO1_uc010soo.1_Missense_Mutation_p.R94Q	254	GBM-41-3392-TP	p.R101Q	C	GTTCACATATCGGAACTGGTA	NM_020898	NP_065949	54117525	Q9P1Z2	CACO1_HUMAN	0			4	446	-	T	T			Missense_Mutation	101			N-terminal AD (CTNNB1 binding site) (By similarity).			
CALCOCO1	0	broad.mit.edu	GRCh37	12	54105903	54105903	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G			TCGA-41-4097-01	TCGA-41-4097-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000550804.1:c.1901G>C	p.Gly634Ala	p.G634A	ENST00000550804		634	gGc/gCc	0			1			G	G/A	uc001sef.2	protein_coding	YES	CCDS8864.1			1901/2076									ovary(1)	1	c.(1900-1902)GGC>GCC			hmmpanther:PTHR31915,hmmpanther:PTHR31915:SF5	coiled-coil transcriptional coactivator isoform				ENSP00000449960		15/15									COSM3398856	15/15	.		ENST00000550804	Transcript			steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	ENSG00000012822	g.chr12:54105903C>G	29306			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=CACO1_HUMAN&rb=597&re=691&var=G634A	NA	getma.org/?cm=var&var=hg19,12,54105903,C,G&fts=all	G634A	--	--	1																																		CALCOCO1_uc001see.2_Missense_Mutation_p.G159A|CALCOCO1_uc010som.1_Missense_Mutation_p.G549A|CALCOCO1_uc010son.1_Missense_Mutation_p.G511A|CALCOCO1_uc001seh.2_3'UTR|CALCOCO1_uc009znd.2_Missense_Mutation_p.G633A|CALCOCO1_uc001seg.2_Missense_Mutation_p.G459A	1	1		benign(0.006)	p.G634A	NM_020898	NP_065949		tolerated(0.42)	1	CACO1_HUMAN	CALCOCO1	HGNC	Q9P1Z2	CACO1_HUMAN			F8W0X2_HUMAN,F8VZI3_HUMAN,F8VWP8_HUMAN,F8VUB3_HUMAN,F8VRQ9_HUMAN,F8VQE3_HUMAN,F8VPN1_HUMAN		15	2045	-			UPI0000037D7A	634			C-terminal AD (CTNNB1 binding site) (By similarity).		SNV	CALCOCO1,missense_variant,p.Gly633Ala,ENST00000262059,NM_020898.2;CALCOCO1,missense_variant,p.Gly549Ala,ENST00000430117,NM_001143682.1;CALCOCO1,missense_variant,p.Gly634Ala,ENST00000550804,;CALCOCO1,missense_variant,p.Gly175Ala,ENST00000546443,;CALCOCO1,3_prime_UTR_variant,,ENST00000548263,;CALCOCO1,downstream_gene_variant,,ENST00000549935,;CALCOCO1,downstream_gene_variant,,ENST00000549613,;CALCOCO1,downstream_gene_variant,,ENST00000552282,;	uc001sef.2	c.1901G>C	1962/2291	4	4			c.1901G>C						12	SNP	c.(1900-1902)GGC>GCC	29	29			ovary(1)	1	Broad	coiled-coil transcriptional coactivator isoform			54105903		0.577	ENSG00000012822	2528	g.chr12:54105903C>G	steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding							7.346041	KEEP	2	0	-1	4	7	2	0	-1	7.800519	4	7	0.25	1	0	0	0	0	1	0	0	0	--	--		0	G			CALCOCO1_uc001see.2_Missense_Mutation_p.G159A|CALCOCO1_uc010som.1_Missense_Mutation_p.G549A|CALCOCO1_uc010son.1_Missense_Mutation_p.G511A|CALCOCO1_uc001seh.2_3'UTR|CALCOCO1_uc009znd.2_Missense_Mutation_p.G633A|CALCOCO1_uc001seg.2_Missense_Mutation_p.G459A	257	GBM-41-4097-TP	p.G634A	C	CACTGTAAAGCCACTAAGAGA	NM_020898	NP_065949	54105903	Q9P1Z2	CACO1_HUMAN	0			15	2045	-	G	G			Missense_Mutation	634			C-terminal AD (CTNNB1 binding site) (By similarity).			
CALCR	799	broad.mit.edu	GRCh37	7	93106887	93106887	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359558.2:c.353C>T	p.Pro118Leu	p.P118L	ENST00000359558	NM_001164737.1	118	cCg/cTg	0			1			A	P/L	uc003umv.1	protein_coding	YES	CCDS55125.1			353/1527									ovary(3)|lung(3)|skin(2)|pancreas(1)	9	c.(352-354)CCG>CTG			PROSITE_profiles:PS50227,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF84,Pfam_domain:PF02793,SMART_domains:SM00008,Superfamily_domains:SSF111418,Prints_domain:PR01350	calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)			ENSP00000352561		16-Jun	2.47E-05		8.96E-05	0.000122		1.53E-05			rs763907185,COSM3412492,COSM3412491	16-Jun	.		ENST00000359558	Transcript			activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	ENSG00000004948	g.chr7:93106887G>A	1440			MODERATE		1.595	low	getma.org/?cm=msa&ty=f&p=CALCR_HUMAN&rb=69&re=137&var=P100L	getma.org/pdb.php?prot=CALCR_HUMAN&from=69&to=137&var=P100L	getma.org/?cm=var&var=hg19,7,93106887,G,A&fts=all	P100L	--	--	1																																		CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.P100L|CALCR_uc003umw.2_Missense_Mutation_p.P100L	0,1,1	1		probably_damaging(1)	p.P118L	NM_001742	NP_001733		tolerated(0.22)	0,1,1		CALCR	HGNC	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)				5	614	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		UPI0001B8380B	100			Extracellular (Potential).		SNV	CALCR,missense_variant,p.Pro118Leu,ENST00000359558,NM_001164737.1;CALCR,missense_variant,p.Pro100Leu,ENST00000421592,;CALCR,missense_variant,p.Pro100Leu,ENST00000360249,;CALCR,missense_variant,p.Pro100Leu,ENST00000394441,NM_001164738.1;CALCR,missense_variant,p.Pro100Leu,ENST00000426151,NM_001742.3;CALCR,missense_variant,p.Pro100Leu,ENST00000423724,;CALCR,missense_variant,p.Pro100Leu,ENST00000415529,;	uc003umv.1	c.353C>T	653/3696	1	1			c.353C>T						7	SNP	c.(352-354)CCG>CTG	52	52			ovary(3)|lung(3)|skin(2)|pancreas(1)	9	Broad	calcitonin receptor isoform 2 precursor		Salmon Calcitonin(DB00017)	93106887		0.413	ENSG00000004948	2530	g.chr7:93106887G>A	activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding							62.119935	KEEP	14	11	-1	40	24	14	11	-1	65.604523	40	24	0.278481	1	0	0	0	0	1	0	0	0	--	--		0	A			CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.P100L|CALCR_uc003umw.2_Missense_Mutation_p.P100L	46	GBM-06-0209-TP	p.P118L	G	ATCAAAATCCGGAAAATAATC	NM_001742	NP_001733	93106887	P30988	CALCR_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.000244)		5	614	-	A	A	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		Missense_Mutation	100			Extracellular (Potential).			
CALCR	0	broad.mit.edu	GRCh37	7	93072970	93072970	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359558.2:c.850G>A	p.Val284Met	p.V284M	ENST00000359558	NM_001164737.1	284	Gtg/Atg	0			1			T	V/M	uc003umv.1	protein_coding	YES	CCDS55125.1			850/1527									ovary(3)|lung(3)|skin(2)|pancreas(1)	9	c.(850-852)GTG>ATG			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF84,Pfam_domain:PF00002,Superfamily_domains:SSF81321	calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)			ENSP00000352561		16-Nov	3.29E-05	9.67E-05		0.000116		1.50E-05		6.07E-05	rs548671354,COSM3412489,COSM3412488	16-Nov	.		ENST00000359558	Transcript			activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	ENSG00000004948	g.chr7:93072970C>T	1440			MODERATE		2.03	medium	getma.org/?cm=msa&ty=f&p=CALCR_HUMAN&rb=184&re=403&var=V266M	NA	getma.org/?cm=var&var=hg19,7,93072970,C,T&fts=all	V266M	--	--	1																																		CALCR_uc011kia.1_Missense_Mutation_p.V64M|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.V250M|CALCR_uc003umw.2_Missense_Mutation_p.V250M	0,1,1	1		benign(0.062)	p.V284M	NM_001742	NP_001733		deleterious(0.03)	0,1,1		CALCR	HGNC	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)				10	1111	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		UPI0001B8380B	266			Cytoplasmic (Potential).		SNV	CALCR,missense_variant,p.Val284Met,ENST00000359558,NM_001164737.1;CALCR,missense_variant,p.Val266Met,ENST00000421592,;CALCR,missense_variant,p.Val266Met,ENST00000360249,;CALCR,missense_variant,p.Val250Met,ENST00000394441,NM_001164738.1;CALCR,missense_variant,p.Val250Met,ENST00000426151,NM_001742.3;CALCR,missense_variant,p.Val266Met,ENST00000423724,;CALCR,missense_variant,p.Val250Met,ENST00000415529,;	uc003umv.1	c.850G>A	1150/3696	2	2			c.850G>A						7	SNP	c.(850-852)GTG>ATG	20	20			ovary(3)|lung(3)|skin(2)|pancreas(1)	9	Broad	calcitonin receptor isoform 2 precursor		Salmon Calcitonin(DB00017)	93072970		0.448	ENSG00000004948	2530	g.chr7:93072970C>T	activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding							147.927547	KEEP	30	41	-1	93	101	30	41	-1	159.666665	93	101	0.265823	1	0	0	0	0	1	0	0	0	--	--		0	T			CALCR_uc011kia.1_Missense_Mutation_p.V64M|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.V250M|CALCR_uc003umw.2_Missense_Mutation_p.V250M	131	GBM-12-5301-TP	p.V284M	C	AACACAGCCACGACAATGAGT	NM_001742	NP_001733	93072970	P30988	CALCR_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.000244)		10	1111	-	T	T	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		Missense_Mutation	266			Cytoplasmic (Potential).			
CALCR	0	broad.mit.edu	GRCh37	7	93055883	93055883	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01	TCGA-19-5952-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359558.2:c.1312C>T	p.Arg438Cys	p.R438C	ENST00000359558	NM_001164737.1	438	Cgc/Tgc	0			1			A	R/C	uc003umv.1	protein_coding	YES	CCDS55125.1			1312/1527									ovary(3)|lung(3)|skin(2)|pancreas(1)	9	c.(1312-1314)CGC>TGC			hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF84,Superfamily_domains:SSF81321,Prints_domain:PR01350	calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)			ENSP00000352561		16/16	8.24E-06			0.000116					rs748757809,COSM1093220,COSM1093219	16/16	.		ENST00000359558	Transcript			activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	ENSG00000004948	g.chr7:93055883G>A	1440			MODERATE		2.76	medium	getma.org/?cm=msa&ty=f&p=CALCR_HUMAN&rb=404&re=490&var=R420C	NA	getma.org/?cm=var&var=hg19,7,93055883,G,A&fts=all	R420C	--	--	1																																		CALCR_uc011kia.1_Missense_Mutation_p.R218C|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.R404C|CALCR_uc003umw.2_Missense_Mutation_p.R404C	0,1,1	1		probably_damaging(0.999)	p.R438C	NM_001742	NP_001733		deleterious(0)	0,1,1		CALCR	HGNC	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)				15	1573	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		UPI0001B8380B	420			Cytoplasmic (Potential).		SNV	CALCR,missense_variant,p.Arg438Cys,ENST00000359558,NM_001164737.1;CALCR,missense_variant,p.Arg420Cys,ENST00000421592,;CALCR,missense_variant,p.Arg420Cys,ENST00000360249,;CALCR,missense_variant,p.Arg404Cys,ENST00000394441,NM_001164738.1;CALCR,missense_variant,p.Arg404Cys,ENST00000426151,NM_001742.3;CALCR,3_prime_UTR_variant,,ENST00000423724,;CALCR,3_prime_UTR_variant,,ENST00000415529,;	uc003umv.1	c.1312C>T	1612/3696	1	1			c.1312C>T						7	SNP	c.(1312-1314)CGC>TGC	64	64			ovary(3)|lung(3)|skin(2)|pancreas(1)	9	Broad	calcitonin receptor isoform 2 precursor		Salmon Calcitonin(DB00017)	93055883		0.537	ENSG00000004948	2530	g.chr7:93055883G>A	activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding							-15.679547	KEEP	2	2	-1	49	57	2	2	-1	7.125571	49	57	0.04	1	0	0	0	0	1	0	0	0	--	--		0	A			CALCR_uc011kia.1_Missense_Mutation_p.R218C|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.R404C|CALCR_uc003umw.2_Missense_Mutation_p.R404C	172	GBM-19-5952-TP	p.R438C	G	GCCCATTGGCGCTTCACGGTG	NM_001742	NP_001733	93055883	P30988	CALCR_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.000244)		15	1573	-	A	A	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		Missense_Mutation	420			Cytoplasmic (Potential).			
CALCR	0	broad.mit.edu	GRCh37	7	93108720	93108720	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01	TCGA-27-2526-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359558.2:c.205G>A	p.Ala69Thr	p.A69T	ENST00000359558	NM_001164737.1	69	Gca/Aca	0			1			T	A/T	uc003umv.1	protein_coding	YES	CCDS55125.1			205/1527									ovary(3)|lung(3)|skin(2)|pancreas(1)	9	c.(205-207)GCA>ACA			hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF84,Superfamily_domains:SSF111418,Prints_domain:PR00361	calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)			ENSP00000352561		16-May									COSM3412494,COSM3412493	16-May	.		ENST00000359558	Transcript			activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	ENSG00000004948	g.chr7:93108720C>T	1440			MODERATE		1.955	medium	getma.org/?cm=msa&ty=f&p=CALCR_HUMAN&rb=1&re=68&var=A51T	NA	getma.org/?cm=var&var=hg19,7,93108720,C,T&fts=all	A51T	--	--	1																																		CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.A51T|CALCR_uc003umw.2_Missense_Mutation_p.A51T	1,1	1		benign(0.336)	p.A69T	NM_001742	NP_001733		deleterious(0)	1,1		CALCR	HGNC	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)				4	466	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		UPI0001B8380B	51			Extracellular (Potential).		SNV	CALCR,missense_variant,p.Ala69Thr,ENST00000359558,NM_001164737.1;CALCR,missense_variant,p.Ala51Thr,ENST00000421592,;CALCR,missense_variant,p.Ala51Thr,ENST00000360249,;CALCR,missense_variant,p.Ala51Thr,ENST00000394441,NM_001164738.1;CALCR,missense_variant,p.Ala51Thr,ENST00000426151,NM_001742.3;MIR653,downstream_gene_variant,,ENST00000385279,;MIR489,downstream_gene_variant,,ENST00000384923,;CALCR,missense_variant,p.Ala51Thr,ENST00000423724,;CALCR,missense_variant,p.Ala51Thr,ENST00000415529,;	uc003umv.1	c.205G>A	505/3696	1	1			c.205G>A						7	SNP	c.(205-207)GCA>ACA	5	5			ovary(3)|lung(3)|skin(2)|pancreas(1)	9	Broad	calcitonin receptor isoform 2 precursor		Salmon Calcitonin(DB00017)	93108720		0.418	ENSG00000004948	2530	g.chr7:93108720C>T	activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding							281.313532	KEEP	79	88	-1	334	353	79	88	-1	348.219799	334	353	0.189771	1	0	0	0	0	1	0	0	0	--	--		0	T			CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.A51T|CALCR_uc003umw.2_Missense_Mutation_p.A51T	203	GBM-27-2526-TP	p.A69T	C	TTGTACTGTGCATCCATCATC	NM_001742	NP_001733	93108720	P30988	CALCR_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.000244)		4	466	-	T	T	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		Missense_Mutation	51			Extracellular (Potential).			
CALCR	0	broad.mit.edu	GRCh37	7	93091387	93091387	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-4925-01	TCGA-76-4925-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359558.2:c.611A>G	p.Tyr204Cys	p.Y204C	ENST00000359558	NM_001164737.1	204	tAt/tGt	0			1			C	Y/C	uc003umv.1	protein_coding	YES	CCDS55125.1			611/1527									ovary(3)|lung(3)|skin(2)|pancreas(1)	9	c.(610-612)TAT>TGT			PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF84	calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)			ENSP00000352561		16-Sep									COSM3412490	16-Sep	.		ENST00000359558	Transcript			activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	ENSG00000004948	g.chr7:93091387T>C	1440			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CALCR_HUMAN&rb=184&re=403&var=Y186C	NA	getma.org/?cm=var&var=hg19,7,93091387,T,C&fts=all	Y186C	--	--	1																																		CALCR_uc011kia.1_5'Flank|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_Intron|CALCR_uc003umu.1_Intron|CALCR_uc003umw.2_Intron	1	1		possibly_damaging(0.878)	p.Y204C	NM_001742	NP_001733		deleterious_low_confidence(0.01)	1		CALCR	HGNC	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)				8	872	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		UPI0001B8380B	186			Cytoplasmic (Potential).		SNV	CALCR,missense_variant,p.Tyr204Cys,ENST00000359558,NM_001164737.1;CALCR,missense_variant,p.Tyr186Cys,ENST00000421592,;CALCR,missense_variant,p.Tyr186Cys,ENST00000360249,;CALCR,intron_variant,,ENST00000394441,NM_001164738.1;CALCR,intron_variant,,ENST00000426151,NM_001742.3;CALCR,missense_variant,p.Tyr186Cys,ENST00000423724,;CALCR,intron_variant,,ENST00000415529,;	uc003umv.1	c.611A>G	911/3696	3	3			c.611A>G						7	SNP	c.(610-612)TAT>TGT	12	12			ovary(3)|lung(3)|skin(2)|pancreas(1)	9	Broad	calcitonin receptor isoform 2 precursor		Salmon Calcitonin(DB00017)	93091387		0.284	ENSG00000004948	2530	g.chr7:93091387T>C	activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding							8.717181	KEEP	2	1	-1	9	5	2	1	-1	9.97195	9	5	0.2	1	0	0	0	0	1	0	0	0	--	--		0	C			CALCR_uc011kia.1_5'Flank|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_Intron|CALCR_uc003umu.1_Intron|CALCR_uc003umw.2_Intron	265	GBM-76-4925-TP	p.Y204C	T	TGCCTTCCTATATTTCCAATT	NM_001742	NP_001733	93091387	P30988	CALCR_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.000244)		8	872	-	C	C	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		Missense_Mutation	186			Cytoplasmic (Potential).			
CALCR	799		GRCh37	7	93108737	93108737	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000359558.2:c.188G>A	p.Arg63Gln	p.R63Q	ENST00000359558	NM_001164737.1	63	cGa/cAa	0																																																																																																																																																																																																																																												
CALCRL	0	broad.mit.edu	GRCh37	2	188223966	188223966	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-28-1747-01	TCGA-28-1747-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392370.3:c.815T>A	p.Ile272Asn	p.I272N	ENST00000392370	NM_005795.5	272	aTt/aAt	0			1			T	I/N	uc002upv.3	protein_coding		CCDS2293.1			815/1386									lung(3)|ovary(1)	4	c.(814-816)ATT>AAT			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF67,Pfam_domain:PF00002,Superfamily_domains:SSF81321,Prints_domain:PR00249,Prints_domain:PR01350	calcitonin receptor-like precursor				ENSP00000376177		15-Nov									COSM3407403	15-Nov	.		ENST00000392370	Transcript				integral to plasma membrane		ENSG00000064989	g.chr2:188223966A>T	16709			MODERATE		3.09	medium	getma.org/?cm=msa&ty=f&p=CALRL_HUMAN&rb=138&re=380&var=I272N	NA	getma.org/?cm=var&var=hg19,2,188223966,A,T&fts=all	I272N	--	--	1																																		CALCRL_uc010frt.2_Missense_Mutation_p.I272N	1			possibly_damaging(0.547)	p.I272N	NM_005795	NP_005786		deleterious(0)	1	CALRL_HUMAN	CALCRL	HGNC	Q16602	CALRL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)		E7EN01_HUMAN,B8ZZJ4_HUMAN		11	1363	-			UPI000013D4CD	272			Helical; Name=4; (Potential).		SNV	CALCRL,missense_variant,p.Ile272Asn,ENST00000409998,;CALCRL,missense_variant,p.Ile272Asn,ENST00000392370,NM_005795.5;CALCRL,missense_variant,p.Ile272Asn,ENST00000410068,NM_001271751.1;AC007319.1,intron_variant,,ENST00000412276,;AC007319.1,intron_variant,,ENST00000453517,;	uc002upv.3	c.815T>A	1529/5155	1	1			c.815T>A						2	SNP	c.(814-816)ATT>AAT	5	5			lung(3)|ovary(1)	4	Broad	calcitonin receptor-like precursor			188223966		0.244	ENSG00000064989	2531	g.chr2:188223966A>T		integral to plasma membrane								27.938216	KEEP	4	6	-1	8	14	4	6	-1	28.939798	8	14	0.3125	1	0	0	0	0	1	0	0	0	--	--		0	T			CALCRL_uc010frt.2_Missense_Mutation_p.I272N	206	GBM-28-1747-TP	p.I272N	A	GCTTCTAGCAATGGCATGTAT	NM_005795	NP_005786	188223966	Q16602	CALRL_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)		11	1363	-	T	T			Missense_Mutation	272			Helical; Name=4; (Potential).			
CALD1	0	broad.mit.edu	GRCh37	7	134618735	134618735	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-19-2631-01	TCGA-19-2631-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361675.2:c.1215A>G	p.Lys405=	p.K405=	ENST00000361675		405	aaA/aaG	0			1			G	K	uc003vrz.2	protein_coding	YES	CCDS5835.1			1215/2382										0	c.(1213-1215)AAA>AAG			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF02029,hmmpanther:PTHR18949,hmmpanther:PTHR18949:SF0	caldesmon 1 isoform 1				ENSP00000354826		15-May									COSM3411610	15-May	.		ENST00000361675	Transcript			cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	ENSG00000122786	g.chr7:134618735A>G	1441			LOW								--	--	1																																		CALD1_uc003vry.2_Intron|CALD1_uc003vsa.2_Intron|CALD1_uc003vsb.2_Intron|CALD1_uc010lmm.2_Intron|CALD1_uc011kpt.1_Intron|CALD1_uc003vsc.2_Intron|CALD1_uc003vsd.2_Intron|CALD1_uc011kpu.1_Intron|CALD1_uc011kpv.1_Intron|CALD1_uc003vse.2_Silent_p.K269K	1	1			p.K405K	NM_033138	NP_149129			1	CALD1_HUMAN	CALD1	HGNC	Q05682	CALD1_HUMAN			Q7Z2Y9_HUMAN,C9JE79_HUMAN,B4E3I0_HUMAN		5	1674	+			UPI0000140A64	405					SNV	CALD1,synonymous_variant,p.=,ENST00000361675,;CALD1,intron_variant,,ENST00000361388,NM_033138.3,NM_033157.3;CALD1,intron_variant,,ENST00000393118,NM_033140.3,NM_033139.3;CALD1,intron_variant,,ENST00000361901,NM_004342.6;CALD1,intron_variant,,ENST00000422748,;CALD1,intron_variant,,ENST00000495522,;CALD1,intron_variant,,ENST00000424922,;CALD1,intron_variant,,ENST00000543443,;CALD1,intron_variant,,ENST00000417172,;CALD1,intron_variant,,ENST00000436461,;CALD1,downstream_gene_variant,,ENST00000445569,;CALD1,downstream_gene_variant,,ENST00000496024,;CALD1,intron_variant,,ENST00000443197,;CALD1,intron_variant,,ENST00000482470,;CALD1,intron_variant,,ENST00000430085,;	uc003vrz.2	c.1215A>G	1444/3612	3	3			c.1215A>G						7	SNP	c.(1213-1215)AAA>AAG	1	1				0	Broad	caldesmon 1 isoform 1			134618735		0.418	ENSG00000122786	2532	g.chr7:134618735A>G	cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding							-38.031535	KEEP	2	2	-1	94	80	2	2	-1	6.58393	94	80	0.017647	1	0	0	0	0	0	0	1	0	--	--		0	G			CALD1_uc003vry.2_Intron|CALD1_uc003vsa.2_Intron|CALD1_uc003vsb.2_Intron|CALD1_uc010lmm.2_Intron|CALD1_uc011kpt.1_Intron|CALD1_uc003vsc.2_Intron|CALD1_uc003vsd.2_Intron|CALD1_uc011kpu.1_Intron|CALD1_uc011kpv.1_Intron|CALD1_uc003vse.2_Silent_p.K269K	167	GBM-19-2631-TP	p.K405K	A	CAAAGATAAAAGGGGAAAAGG	NM_033138	NP_149129	134618735	Q05682	CALD1_HUMAN	0			5	1674	+	G	G			Silent	405						
CALD1	0	broad.mit.edu	GRCh37	7	134552500	134552500	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1986-01	TCGA-32-1986-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361675.2:c.16C>T	p.Arg6Cys	p.R6C	ENST00000361675		6	Cgt/Tgt	0			1			T	R/C	uc003vrz.2	protein_coding	YES	CCDS5835.1			16/2382										0	c.(16-18)CGT>TGT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18949,hmmpanther:PTHR18949:SF0,Low_complexity_(Seg):seg	caldesmon 1 isoform 1				ENSP00000354826		15-Mar	8.24E-06							7.46E-05	rs748134346,COSM3411608	15-Mar	.		ENST00000361675	Transcript			cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	ENSG00000122786	g.chr7:134552500C>T	1441			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=CALD1_HUMAN&rb=1&re=30&var=R6C	NA	getma.org/?cm=var&var=hg19,7,134552500,C,T&fts=all	R6C	--	--	1																																		CALD1_uc003vry.2_Missense_Mutation_p.R6C|CALD1_uc003vsa.2_Missense_Mutation_p.R6C|CALD1_uc003vsb.2_Missense_Mutation_p.R6C|CALD1_uc010lmm.2_Missense_Mutation_p.R6C|CALD1_uc011kpt.1_5'UTR	0,1	1		unknown(0)	p.R6C	NM_033138	NP_149129		deleterious(0)	0,1	CALD1_HUMAN	CALD1	HGNC	Q05682	CALD1_HUMAN			Q7Z2Y9_HUMAN,C9JE79_HUMAN,B4E3I0_HUMAN		3	475	+			UPI0000140A64	6					SNV	CALD1,missense_variant,p.Arg6Cys,ENST00000361388,NM_033138.3,NM_033157.3;CALD1,missense_variant,p.Arg6Cys,ENST00000361901,NM_004342.6;CALD1,missense_variant,p.Arg6Cys,ENST00000361675,;CALD1,missense_variant,p.Arg6Cys,ENST00000422748,;CALD1,missense_variant,p.Arg6Cys,ENST00000417172,;CALD1,missense_variant,p.Arg6Cys,ENST00000436461,;CALD1,missense_variant,p.Arg6Cys,ENST00000454108,;CALD1,missense_variant,p.Arg6Cys,ENST00000445569,;CALD1,missense_variant,p.Arg6Cys,ENST00000435928,;CALD1,non_coding_transcript_exon_variant,,ENST00000489019,;CALD1,missense_variant,p.Arg6Cys,ENST00000430085,;CALD1,non_coding_transcript_exon_variant,,ENST00000482470,;CALD1,non_coding_transcript_exon_variant,,ENST00000475772,;CALD1,non_coding_transcript_exon_variant,,ENST00000498254,;	uc003vrz.2	c.16C>T	245/3612	2	2			c.16C>T						7	SNP	c.(16-18)CGT>TGT	34	34				0	Broad	caldesmon 1 isoform 1			134552500		0.433	ENSG00000122786	2532	g.chr7:134552500C>T	cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding							14.634658	KEEP	3	6	-1	33	27	3	6	-1	21.912923	33	27	0.147541	1	0	0	0	0	1	0	0	0	--	--		0	T			CALD1_uc003vry.2_Missense_Mutation_p.R6C|CALD1_uc003vsa.2_Missense_Mutation_p.R6C|CALD1_uc003vsb.2_Missense_Mutation_p.R6C|CALD1_uc010lmm.2_Missense_Mutation_p.R6C|CALD1_uc011kpt.1_5'UTR	233	GBM-32-1986-TP	p.R6C	C	TGATTTTGAGCGTCGCAGAGA	NM_033138	NP_149129	134552500	Q05682	CALD1_HUMAN	0			3	475	+	T	T			Missense_Mutation	6						
CALHM2	0	broad.mit.edu	GRCh37	10	105207008	105207008	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01	TCGA-32-2491-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260743.5:c.873G>C	p.Gln291His	p.Q291H	ENST00000260743	NM_015916.4	291	caG/caC	0			1			G	Q/H	uc001kwz.2	protein_coding	YES	CCDS7549.1			873/972									skin(1)	1	c.(871-873)CAG>CAC			hmmpanther:PTHR32261,hmmpanther:PTHR32261:SF3	calcium homeostasis modulator 2				ENSP00000260743		4-Apr									COSM3396897	4-Apr	.		ENST00000260743	Transcript				integral to membrane		ENSG00000138172	g.chr10:105207008C>G	23493			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=CAHM2_HUMAN&rb=115&re=321&var=Q291H	NA	getma.org/?cm=var&var=hg19,10,105207008,C,G&fts=all	Q291H	--	--	1																																		CALHM2_uc001kxa.2_Missense_Mutation_p.Q291H|CALHM2_uc001kxc.2_3'UTR|CALHM2_uc001kxb.2_Missense_Mutation_p.Q291H	1	1		benign(0.337)	p.Q291H	NM_015916	NP_057000		tolerated(0.08)	1	CAHM2_HUMAN	CALHM2	HGNC	Q9HA72	CAHM2_HUMAN					3	1259	-			UPI0000070F1F	291					SNV	CALHM2,missense_variant,p.Gln291His,ENST00000260743,NM_015916.4;CALHM2,missense_variant,p.Gln291His,ENST00000369788,;PDCD11,downstream_gene_variant,,ENST00000369797,NM_014976.1;CALHM2,downstream_gene_variant,,ENST00000393235,;RP11-225H22.7,upstream_gene_variant,,ENST00000608063,;CALHM2,downstream_gene_variant,,ENST00000494180,;CALHM2,downstream_gene_variant,,ENST00000461631,;CALHM2,downstream_gene_variant,,ENST00000480642,;CALHM2,downstream_gene_variant,,ENST00000474797,;CALHM2,downstream_gene_variant,,ENST00000463878,;PDCD11,downstream_gene_variant,,ENST00000478543,;	uc001kwz.2	c.873G>C	1397/1859	3	3			c.873G>C						10	SNP	c.(871-873)CAG>CAC	3	3			skin(1)	1	Broad	calcium homeostasis modulator 2			105207008		0.627	ENSG00000138172	2534	g.chr10:105207008C>G		integral to membrane								-0.178325	KEEP	0	2	-1	22	19	0	2	-1	6.477955	22	19	0.060606	1	0	0	0	0	1	0	0	0	--	--		0	G			CALHM2_uc001kxa.2_Missense_Mutation_p.Q291H|CALHM2_uc001kxc.2_3'UTR|CALHM2_uc001kxb.2_Missense_Mutation_p.Q291H	235	GBM-32-2491-TP	p.Q291H	C	GTGGGAGGCCCTGGTTCTCAC	NM_015916	NP_057000	105207008	Q9HA72	CAHM2_HUMAN	0			3	1259	-	G	G			Missense_Mutation	291						
CALHM2	0	broad.mit.edu	GRCh37	10	105209447	105209447	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-2571-01	TCGA-41-2571-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260743.5:c.252C>T	p.Ala84=	p.A84=	ENST00000260743	NM_015916.4	84	gcC/gcT	0		A:0.0008	1	A:0		A	A	uc001kwz.2	protein_coding	YES	CCDS7549.1			252/972									skin(1)	1	c.(250-252)GCC>GCT			Pfam_domain:PF14798,hmmpanther:PTHR32261,hmmpanther:PTHR32261:SF3	calcium homeostasis modulator 2		A:0		ENSP00000260743	A:0	4-Mar	1.65E-05	0.000194							rs200157737,COSM3396898,COSM3396899	4-Mar	.		ENST00000260743	Transcript		A:0.0002		integral to membrane		ENSG00000138172	g.chr10:105209447G>A	23493			LOW								--	--	1																																		CALHM2_uc001kxa.2_Silent_p.A84A|CALHM2_uc001kxc.2_Silent_p.A84A|CALHM2_uc001kxb.2_Silent_p.A84A|CALHM2_uc001kxd.1_Silent_p.A84A	0,1,1	1			p.A84A	NM_015916	NP_057000	A:0		0,1,1	CAHM2_HUMAN	CALHM2	HGNC	Q9HA72	CAHM2_HUMAN					2	638	-			UPI0000070F1F	84					SNV	CALHM2,synonymous_variant,p.=,ENST00000393235,;CALHM2,synonymous_variant,p.=,ENST00000260743,NM_015916.4;CALHM2,synonymous_variant,p.=,ENST00000369788,;PDCD11,downstream_gene_variant,,ENST00000369797,NM_014976.1;CALHM1,downstream_gene_variant,,ENST00000329905,NM_001001412.3;RP11-225H22.4,upstream_gene_variant,,ENST00000411906,;RP11-225H22.7,upstream_gene_variant,,ENST00000608063,;CALHM2,non_coding_transcript_exon_variant,,ENST00000494180,;CALHM2,downstream_gene_variant,,ENST00000461631,;CALHM2,downstream_gene_variant,,ENST00000480642,;CALHM2,downstream_gene_variant,,ENST00000474797,;CALHM2,downstream_gene_variant,,ENST00000463878,;PDCD11,downstream_gene_variant,,ENST00000478543,;	uc001kwz.2	c.252C>T	776/1859	2	2			c.252C>T						10	SNP	c.(250-252)GCC>GCT	42	42			skin(1)	1	Broad	calcium homeostasis modulator 2			105209447		0.647	ENSG00000138172	2534	g.chr10:105209447G>A		integral to membrane								160.046835	KEEP	32	22	-1	11	22	32	22	-1	160.767917	11	22	0.602564	1	0	0	0	0	0	0	1	0	--	--		0	A			CALHM2_uc001kxa.2_Silent_p.A84A|CALHM2_uc001kxc.2_Silent_p.A84A|CALHM2_uc001kxb.2_Silent_p.A84A|CALHM2_uc001kxd.1_Silent_p.A84A	250	GBM-41-2571-TP	p.A84A	G	GCTGGCACTCGGCCACGAGGT	NM_015916	NP_057000	105209447	Q9HA72	CAHM2_HUMAN	0			2	638	-	A	A			Silent	84						
CALML5	51806	broad.mit.edu	GRCh37	10	5541186	5541186	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0879-01	TCGA-06-0879-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380332.3:c.216G>A	p.Ala72=	p.A72=	ENST00000380332	NM_017422.4	72	gcG/gcA	0			1			T	A	uc001iic.2	protein_coding	YES	CCDS7068.1			216/441										0	c.(214-216)GCG>GCA			Gene3D:1.10.238.10,Pfam_domain:PF13499,PROSITE_profiles:PS50222,hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF18,SMART_domains:SM00054,Superfamily_domains:SSF47473	calmodulin-like 5				ENSP00000369689		1-Jan									COSM2152270	1-Jan	.		ENST00000380332	Transcript			epidermis development|signal transduction		calcium ion binding|protein binding	ENSG00000178372	g.chr10:5541186C>T	18180			LOW								--	--	1																																			1	1			p.A72A	NM_017422	NP_059118			1	CALL5_HUMAN	CALML5	HGNC	Q9NZT1	CALL5_HUMAN					1	348	-			UPI0000049C8F	72			EF-hand 2.		SNV	CALML5,synonymous_variant,p.=,ENST00000380332,NM_017422.4;	uc001iic.2	c.216G>A	348/876	2	2			c.216G>A						10	SNP	c.(214-216)GCG>GCA	36	36				0	Broad	calmodulin-like 5			5541186		0.662	ENSG00000178372	2540	g.chr10:5541186C>T	epidermis development|signal transduction		calcium ion binding|protein binding	GBM(149;1055 3356 43077)			GBM(149;1055 3356 43077)			18.918469	KEEP	27	18	-1	9	15	27	18	-1	19.564274	9	15	0.318182	1	0	0	0	0	0	0	1	0	--	--		0	T				75	GBM-06-0879-TP	p.A72A	C	CCTTCTTCGCCGCCGTCAGGA	NM_017422	NP_059118	5541186	Q9NZT1	CALL5_HUMAN	0			1	348	-	T	T			Silent	72			EF-hand 2.			
CALML5	0	broad.mit.edu	GRCh37	10	5540984	5540984	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01	TCGA-27-1835-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380332.3:c.418G>A	p.Ala140Thr	p.A140T	ENST00000380332	NM_017422.4	140	Gcg/Acg	0			1			T	A/T	uc001iic.2	protein_coding	YES	CCDS7068.1			418/441										0	c.(418-420)GCG>ACG			Gene3D:1.10.238.10,Pfam_domain:PF13499,PROSITE_profiles:PS50222,hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF18,SMART_domains:SM00054,Superfamily_domains:SSF47473	calmodulin-like 5				ENSP00000369689		1-Jan									COSM3397174	1-Jan	.		ENST00000380332	Transcript			epidermis development|signal transduction		calcium ion binding|protein binding	ENSG00000178372	g.chr10:5540984C>T	18180			MODERATE		-0.16	neutral	getma.org/?cm=msa&ty=f&p=CALL5_HUMAN&rb=79&re=143&var=A140T	getma.org/pdb.php?prot=CALL5_HUMAN&from=79&to=143&var=A140T	getma.org/?cm=var&var=hg19,10,5540984,C,T&fts=all	A140T	--	--	1																																			1	1		benign(0.289)	p.A140T	NM_017422	NP_059118		deleterious(0.02)	1	CALL5_HUMAN	CALML5	HGNC	Q9NZT1	CALL5_HUMAN					1	550	-			UPI0000049C8F	140			EF-hand 4.		SNV	CALML5,missense_variant,p.Ala140Thr,ENST00000380332,NM_017422.4;	uc001iic.2	c.418G>A	550/876	2	2			c.418G>A						10	SNP	c.(418-420)GCG>ACG	30	30				0	Broad	calmodulin-like 5			5540984		0.701	ENSG00000178372	2540	g.chr10:5540984C>T	epidermis development|signal transduction		calcium ion binding|protein binding	GBM(149;1055 3356 43077)			GBM(149;1055 3356 43077)			16.285124	KEEP	3	3	-1	1	0	3	3	-1	16.910286	1	0	0.833333	1	0	0	0	0	1	0	0	0	--	--		0	T				194	GBM-27-1835-TP	p.A140T	C	AGCATCCTCGCGAACTCCTCG	NM_017422	NP_059118	5540984	Q9NZT1	CALL5_HUMAN	0			1	550	-	T	T			Missense_Mutation	140			EF-hand 4.			
CALN1	83698	broad.mit.edu	GRCh37	7	71571150	71571150	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01	TCGA-06-2567-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395275.2:c.374G>A	p.Arg125His	p.R125H	ENST00000395275	NM_031468.3	125	cGc/cAc	0			1			T	R/H	uc003twa.3	protein_coding		CCDS5541.1			248/660									skin(1)	1	c.(247-249)CGC>CAC			Gene3D:1.10.238.10,Pfam_domain:PF13499,PROSITE_patterns:PS00303,PROSITE_profiles:PS50222,hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF51,SMART_domains:SM00054,Superfamily_domains:SSF47473	calneuron 1 isoform 2				ENSP00000332498		6-Mar	8.24E-06		9.09E-05						rs771972574,COSM2153081,COSM2153080	6-Mar	.		ENST00000329008	Transcript				Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	ENSG00000183166	g.chr7:71571150C>T	13248			MODERATE		0.6	neutral	getma.org/?cm=msa&ty=f&p=CABP8_HUMAN&rb=40&re=101&var=R83H	getma.org/pdb.php?prot=CABP8_HUMAN&from=40&to=101&var=R83H	getma.org/?cm=var&var=hg19,7,71571150,C,T&fts=all	R83H	--	--	1																																		CALN1_uc003twb.3_Missense_Mutation_p.R125H|CALN1_uc003twc.3_Missense_Mutation_p.R83H	0,1,1			benign(0.013)	p.R83H	NM_001017440	NP_001017440		tolerated(0.17)	0,1,1	CABP8_HUMAN	CALN1	HGNC	Q9BXU9	CABP8_HUMAN			Q86UM7_HUMAN,Q86UL5_HUMAN,Q75MW5_HUMAN,Q75MP5_HUMAN,Q75MI2_HUMAN,E9PFU3_HUMAN,A4D1Z1_HUMAN		3	775	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	UPI0000127AD6	83			EF-hand 2.|Cytoplasmic (Potential).		SNV	CALN1,missense_variant,p.Arg125His,ENST00000395275,NM_031468.3;CALN1,missense_variant,p.Arg83His,ENST00000329008,NM_001017440.2;CALN1,missense_variant,p.Arg83His,ENST00000395276,;CALN1,missense_variant,p.Arg125His,ENST00000412588,;CALN1,missense_variant,p.Arg83His,ENST00000431984,;CALN1,missense_variant,p.Arg83His,ENST00000405452,;CALN1,missense_variant,p.Arg83His,ENST00000446128,;ABCF2P2,downstream_gene_variant,,ENST00000450549,;	uc003twa.3	c.248G>A	547/9243	1	1			c.248G>A						7	SNP	c.(247-249)CGC>CAC	11	11			skin(1)	1	Broad	calneuron 1 isoform 2			71571150		0.587	ENSG00000183166	2542	g.chr7:71571150C>T		Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding							33.81718	KEEP	9	8	-1	23	28	9	8	-1	37.910351	23	28	0.229508	1	0	0	0	0	1	0	0	0	--	--		0	T			CALN1_uc003twb.3_Missense_Mutation_p.R125H|CALN1_uc003twc.3_Missense_Mutation_p.R83H	89	GBM-06-2567-TP	p.R83H	C	CATGTCCAAGCGCTGCATGAT	NM_001017440	NP_001017440	71571150	Q9BXU9	CABP8_HUMAN	0			3	775	-	T	T		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	Missense_Mutation	83			EF-hand 2.|Cytoplasmic (Potential).			
CALN1	83698	broad.mit.edu	GRCh37	7	71252795	71252795	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395275.2:c.751G>A	p.Ala251Thr	p.A251T	ENST00000395275	NM_031468.3	251	Gca/Aca	0			1			T	A/T	uc003twa.3	protein_coding		CCDS5541.1			625/660									skin(1)	1	c.(625-627)GCA>ACA			hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF51,Transmembrane_helices:TMhelix	calneuron 1 isoform 2				ENSP00000332498		6-Jun									COSM3412251,COSM3412250	6-Jun	.		ENST00000329008	Transcript				Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	ENSG00000183166	g.chr7:71252795C>T	13248			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=CABP8_HUMAN&rb=102&re=219&var=A209T	NA	getma.org/?cm=var&var=hg19,7,71252795,C,T&fts=all	A209T	--	--	1																																		CALN1_uc003twb.3_Missense_Mutation_p.A251T|CALN1_uc003twc.3_Missense_Mutation_p.A209T	1,1			probably_damaging(0.977)	p.A209T	NM_001017440	NP_001017440		deleterious(0)	1,1	CABP8_HUMAN	CALN1	HGNC	Q9BXU9	CABP8_HUMAN			Q86UM7_HUMAN,Q86UL5_HUMAN,Q75MW5_HUMAN,Q75MP5_HUMAN,Q75MI2_HUMAN,E9PFU3_HUMAN,A4D1Z1_HUMAN		6	1152	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	UPI0000127AD6	209			Helical; Anchor for type IV membrane protein; (Potential).		SNV	CALN1,missense_variant,p.Ala251Thr,ENST00000395275,NM_031468.3;CALN1,missense_variant,p.Ala209Thr,ENST00000329008,NM_001017440.2;CALN1,missense_variant,p.Ala209Thr,ENST00000395276,;CALN1,missense_variant,p.Ala251Thr,ENST00000412588,;CALN1,missense_variant,p.Ala209Thr,ENST00000431984,;CALN1,missense_variant,p.Ala209Thr,ENST00000405452,;	uc003twa.3	c.625G>A	924/9243	2	2			c.625G>A						7	SNP	c.(625-627)GCA>ACA	33	33			skin(1)	1	Broad	calneuron 1 isoform 2			71252795		0.587	ENSG00000183166	2542	g.chr7:71252795C>T		Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding							10.085025	KEEP	6	7	-1	47	53	6	7	-1	25.63064	47	53	0.119266	1	0	0	0	0	1	0	0	0	--	--		0	T			CALN1_uc003twb.3_Missense_Mutation_p.A251T|CALN1_uc003twc.3_Missense_Mutation_p.A209T	102	GBM-06-5858-TP	p.A209T	C	TGGTTGGCTGCAATCAGCATG	NM_001017440	NP_001017440	71252795	Q9BXU9	CABP8_HUMAN	0			6	1152	-	T	T		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	Missense_Mutation	209			Helical; Anchor for type IV membrane protein; (Potential).			
CALN1	0	broad.mit.edu	GRCh37	7	71252851	71252851	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01	TCGA-14-0789-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329008.5:c.569G>A	p.Arg190Gln	p.R190Q	ENST00000329008	NM_001017440.2	190	cGg/cAg	0			1			T	R/Q	uc003twa.3	protein_coding		CCDS5541.1			569/660									skin(1)	1	c.(568-570)CGG>CAG			hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF51	calneuron 1 isoform 2				ENSP00000332498		6-Jun	9.88E-05			0.000116	0.000605	7.49E-05	0.0011	6.06E-05	rs767122514,COSM1091463,COSM1154851	6-Jun	common_variant		ENST00000329008	Transcript				Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	ENSG00000183166	g.chr7:71252851C>T	13248			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=CABP8_HUMAN&rb=102&re=219&var=R190Q	NA	getma.org/?cm=var&var=hg19,7,71252851,C,T&fts=all	R190Q	--	--	1																																		CALN1_uc003twb.3_Missense_Mutation_p.R232Q|CALN1_uc003twc.3_Missense_Mutation_p.R190Q	0,1,1			probably_damaging(0.953)	p.R190Q	NM_001017440	NP_001017440		deleterious(0)	0,1,1	CABP8_HUMAN	CALN1	HGNC	Q9BXU9	CABP8_HUMAN			Q86UM7_HUMAN,Q86UL5_HUMAN,Q75MW5_HUMAN,Q75MP5_HUMAN,Q75MI2_HUMAN,E9PFU3_HUMAN,A4D1Z1_HUMAN		6	1096	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	UPI0000127AD6	190			Cytoplasmic (Potential).		SNV	CALN1,missense_variant,p.Arg232Gln,ENST00000395275,NM_031468.3;CALN1,missense_variant,p.Arg190Gln,ENST00000329008,NM_001017440.2;CALN1,missense_variant,p.Arg190Gln,ENST00000395276,;CALN1,missense_variant,p.Arg232Gln,ENST00000412588,;CALN1,missense_variant,p.Arg190Gln,ENST00000431984,;CALN1,missense_variant,p.Arg190Gln,ENST00000405452,;	uc003twa.3	c.569G>A	868/9243	1	1			c.569G>A						7	SNP	c.(568-570)CGG>CAG	8	8			skin(1)	1	Broad	calneuron 1 isoform 2			71252851		0.552	ENSG00000183166	2542	g.chr7:71252851C>T		Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding							64.471026	KEEP	21	12	-1	75	54	21	12	-1	76.572667	75	54	0.194245	1	0	0	0	0	1	0	0	0	--	--		0	T			CALN1_uc003twb.3_Missense_Mutation_p.R232Q|CALN1_uc003twc.3_Missense_Mutation_p.R190Q	136	GBM-14-0789-TP	p.R190Q	C	GAGGCTCTTCCGGACGCAGGT	NM_001017440	NP_001017440	71252851	Q9BXU9	CABP8_HUMAN	0			6	1096	-	T	T		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	Missense_Mutation	190			Cytoplasmic (Potential).			
CALN1	0	broad.mit.edu	GRCh37	7	71488740	71488740	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-0817-01	TCGA-14-0817-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329008.5:c.277G>T	p.Asp93Tyr	p.D93Y	ENST00000329008	NM_001017440.2	93	Gat/Tat	0			1			A	D/Y	uc003twa.3	protein_coding		CCDS5541.1			277/660									skin(1)	1	c.(277-279)GAT>TAT			Gene3D:1.10.238.10,Pfam_domain:PF13499,PROSITE_patterns:PS00018,PROSITE_patterns:PS00303,PROSITE_profiles:PS50222,hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF51,SMART_domains:SM00054,Superfamily_domains:SSF47473	calneuron 1 isoform 2				ENSP00000332498		6-Apr									COSM2154788,COSM2154787	6-Apr	.		ENST00000329008	Transcript				Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	ENSG00000183166	g.chr7:71488740C>A	13248			MODERATE		3.845	high	getma.org/?cm=msa&ty=f&p=CABP8_HUMAN&rb=40&re=101&var=D93Y	getma.org/pdb.php?prot=CABP8_HUMAN&from=40&to=101&var=D93Y	getma.org/?cm=var&var=hg19,7,71488740,C,A&fts=all	D93Y	--	--	1																																		CALN1_uc003twb.3_Missense_Mutation_p.D135Y|CALN1_uc003twc.3_Missense_Mutation_p.D93Y	1,1			possibly_damaging(0.739)	p.D93Y	NM_001017440	NP_001017440		deleterious(0)	1,1	CABP8_HUMAN	CALN1	HGNC	Q9BXU9	CABP8_HUMAN			Q86UM7_HUMAN,Q86UL5_HUMAN,Q75MW5_HUMAN,Q75MP5_HUMAN,Q75MI2_HUMAN,E9PFU3_HUMAN,A4D1Z1_HUMAN		4	804	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	UPI0000127AD6	93			2 (Potential).|EF-hand 2.|Cytoplasmic (Potential).		SNV	CALN1,missense_variant,p.Asp135Tyr,ENST00000395275,NM_031468.3;CALN1,missense_variant,p.Asp93Tyr,ENST00000329008,NM_001017440.2;CALN1,missense_variant,p.Asp93Tyr,ENST00000395276,;CALN1,missense_variant,p.Asp135Tyr,ENST00000412588,;CALN1,missense_variant,p.Asp93Tyr,ENST00000431984,;CALN1,missense_variant,p.Asp93Tyr,ENST00000405452,;CALN1,missense_variant,p.Asp93Tyr,ENST00000446128,;	uc003twa.3	c.277G>T	576/9243	2	2			c.277G>T						7	SNP	c.(277-279)GAT>TAT	22	22			skin(1)	1	Broad	calneuron 1 isoform 2			71488740		0.458	ENSG00000183166	2542	g.chr7:71488740C>A		Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding							75.795735	KEEP	12	21	0.636363636	44	32	12	21	0.636363636	79.00805	44	32	0.31	1	0	0	0	0	1	0	0	0	--	--		0	A			CALN1_uc003twb.3_Missense_Mutation_p.D135Y|CALN1_uc003twc.3_Missense_Mutation_p.D93Y	139	GBM-14-0817-TP	p.D93Y	C	TCATCAAAATCCACCTGGCCA	NM_001017440	NP_001017440	71488740	Q9BXU9	CABP8_HUMAN	0			4	804	-	A	A		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	Missense_Mutation	93			2 (Potential).|EF-hand 2.|Cytoplasmic (Potential).			
CALN1	0	broad.mit.edu	GRCh37	7	71275406	71275406	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-3476-01	TCGA-14-3476-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329008.5:c.447G>A	p.Thr149=	p.T149=	ENST00000329008	NM_001017440.2	149	acG/acA	0			1			T	T	uc003twa.3	protein_coding		CCDS5541.1			447/660									skin(1)	1	c.(445-447)ACG>ACA			Gene3D:1.10.238.10,hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF51,Superfamily_domains:SSF47473	calneuron 1 isoform 2				ENSP00000332498		6-May	4.94E-05		0.000259			4.50E-05			rs766714139,COSM279546,COSM3412252	6-May	.		ENST00000329008	Transcript				Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	ENSG00000183166	g.chr7:71275406C>T	13248			LOW								--	--	1																																		CALN1_uc003twb.3_Silent_p.T191T|CALN1_uc003twc.3_Silent_p.T149T	0,1,1				p.T149T	NM_001017440	NP_001017440			0,1,1	CABP8_HUMAN	CALN1	HGNC	Q9BXU9	CABP8_HUMAN			Q86UM7_HUMAN,Q86UL5_HUMAN,Q75MW5_HUMAN,Q75MP5_HUMAN,Q75MI2_HUMAN,E9PFU3_HUMAN,A4D1Z1_HUMAN		5	974	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	UPI0000127AD6	149			Cytoplasmic (Potential).		SNV	CALN1,synonymous_variant,p.=,ENST00000395275,NM_031468.3;CALN1,synonymous_variant,p.=,ENST00000329008,NM_001017440.2;CALN1,synonymous_variant,p.=,ENST00000395276,;CALN1,synonymous_variant,p.=,ENST00000412588,;CALN1,synonymous_variant,p.=,ENST00000431984,;CALN1,synonymous_variant,p.=,ENST00000405452,;	uc003twa.3	c.447G>A	746/9243	1	1			c.447G>A						7	SNP	c.(445-447)ACG>ACA	1	1			skin(1)	1	Broad	calneuron 1 isoform 2			71275406		0.463	ENSG00000183166	2542	g.chr7:71275406C>T		Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding							217.422194	KEEP	29	54	-1	96	135	29	54	-1	230.99279	96	135	0.273038	1	0	0	0	0	0	0	1	0	--	--		0	T			CALN1_uc003twb.3_Silent_p.T191T|CALN1_uc003twc.3_Silent_p.T149T	151	GBM-14-3476-TP	p.T149T	C	TGTCCTTCATCGTTAGGTGGT	NM_001017440	NP_001017440	71275406	Q9BXU9	CABP8_HUMAN	0			5	974	-	T	T		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	Silent	149			Cytoplasmic (Potential).			
CALN1	0	broad.mit.edu	GRCh37	7	71571179	71571179	+	synonymous_variant	Silent	SNP	G	G	A	rs139754746		TCGA-28-5204-01	TCGA-28-5204-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329008.5:c.219C>T	p.Ser73=	p.S73=	ENST00000329008	NM_001017440.2	73	agC/agT	0	A:0	A:0	1	A:0.0014		A	S	uc003twa.3	protein_coding		CCDS5541.1			219/660									skin(1)	1	c.(217-219)AGC>AGT			Gene3D:1.10.238.10,Pfam_domain:PF13499,PROSITE_profiles:PS50222,hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF51,Superfamily_domains:SSF47473	calneuron 1 isoform 2		A:0	A:0.0002	ENSP00000332498	A:0	6-Mar	0.000115				0.000153	0.000197			rs139754746,COSM3086538,COSM3086537	6-Mar	.		ENST00000329008	Transcript		A:0.0002		Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	ENSG00000183166	g.chr7:71571179G>A	13248			LOW								--	--	1																																		CALN1_uc003twb.3_Silent_p.S115S|CALN1_uc003twc.3_Silent_p.S73S	0,1,1				p.S73S	NM_001017440	NP_001017440	A:0		0,1,1	CABP8_HUMAN	CALN1	HGNC	Q9BXU9	CABP8_HUMAN			Q86UM7_HUMAN,Q86UL5_HUMAN,Q75MW5_HUMAN,Q75MP5_HUMAN,Q75MI2_HUMAN,E9PFU3_HUMAN,A4D1Z1_HUMAN		3	746	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	UPI0000127AD6	73			EF-hand 2.|Cytoplasmic (Potential).		SNV	CALN1,synonymous_variant,p.=,ENST00000395275,NM_031468.3;CALN1,synonymous_variant,p.=,ENST00000329008,NM_001017440.2;CALN1,synonymous_variant,p.=,ENST00000395276,;CALN1,synonymous_variant,p.=,ENST00000412588,;CALN1,synonymous_variant,p.=,ENST00000431984,;CALN1,synonymous_variant,p.=,ENST00000405452,;CALN1,synonymous_variant,p.=,ENST00000446128,;ABCF2P2,downstream_gene_variant,,ENST00000450549,;	uc003twa.3	c.219C>T	518/9243	1	1			c.219C>T						7	SNP	c.(217-219)AGC>AGT	52	52			skin(1)	1	Broad	calneuron 1 isoform 2			71571179		0.592	ENSG00000183166	2542	g.chr7:71571179G>A		Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding							46.175044	KEEP	13	15	-1	52	52	13	15	-1	55.863118	52	52	0.209677	1	0	0	0	0	0	0	1	0	--	--		0	A			CALN1_uc003twb.3_Silent_p.S115S|CALN1_uc003twc.3_Silent_p.S73S	215	GBM-28-5204-TP	p.S73S	G	GCTCCACCTCGCTTGGCATGT	NM_001017440	NP_001017440	71571179	Q9BXU9	CABP8_HUMAN	0			3	746	-	A	A		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	Silent	73			EF-hand 2.|Cytoplasmic (Potential).			
CALN1	0	broad.mit.edu	GRCh37	7	71275350	71275350	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs143545775		TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329008.5:c.503C>T	p.Ser168Leu	p.S168L	ENST00000329008	NM_001017440.2	168	tCg/tTg	0	A:0.0002	A:0	1	A:0		A	S/L	uc003twa.3	protein_coding		CCDS5541.1			503/660						not_provided		p.S168L(1)	skin(1)	1	c.(502-504)TCG>TTG			hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF51	calneuron 1 isoform 2		A:0	A:0.0001	ENSP00000332498	A:0.001	6-May	4.12E-05	9.61E-05				3.00E-05		0.000122	TMP_ESP_7_71275350_71275350,rs143545775,COSM108203,COSM1597094	6-May	.		ENST00000329008	Transcript		A:0.0002		Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	ENSG00000183166	g.chr7:71275350G>A	13248			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=CABP8_HUMAN&rb=102&re=219&var=S168L	NA	getma.org/?cm=var&var=hg19,7,71275350,G,A&fts=all	S168L	--	--	1																																		CALN1_uc003twb.3_Missense_Mutation_p.S210L|CALN1_uc003twc.3_Missense_Mutation_p.S168L	0,1,1,1		21499247	benign(0.012)	p.S168L	NM_001017440	NP_001017440	A:0	tolerated(0.07)	0,1,1,1	CABP8_HUMAN	CALN1	HGNC	Q9BXU9	CABP8_HUMAN			Q86UM7_HUMAN,Q86UL5_HUMAN,Q75MW5_HUMAN,Q75MP5_HUMAN,Q75MI2_HUMAN,E9PFU3_HUMAN,A4D1Z1_HUMAN		5	1030	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	UPI0000127AD6	168			Cytoplasmic (Potential).		SNV	CALN1,missense_variant,p.Ser210Leu,ENST00000395275,NM_031468.3;CALN1,missense_variant,p.Ser168Leu,ENST00000329008,NM_001017440.2;CALN1,missense_variant,p.Ser168Leu,ENST00000395276,;CALN1,missense_variant,p.Ser210Leu,ENST00000412588,;CALN1,missense_variant,p.Ser168Leu,ENST00000431984,;CALN1,missense_variant,p.Ser168Leu,ENST00000405452,;	uc003twa.3	c.503C>T	802/9243	1	1			c.503C>T						7	SNP	c.(502-504)TCG>TTG	56	56		p.S168L(1)	skin(1)	1	Broad	calneuron 1 isoform 2			71275350		0.507	ENSG00000183166	2542	g.chr7:71275350G>A		Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding							91.912715	KEEP	27	23	-1	147	149	27	23	-1	125.831859	147	149	0.157895	1	0	0	0	0	1	0	0	0	--	--		0	A			CALN1_uc003twb.3_Missense_Mutation_p.S210L|CALN1_uc003twc.3_Missense_Mutation_p.S168L	240	GBM-32-2632-TP	p.S168L	G	GCAGTTCCCCGAGGTCTCATT	NM_001017440	NP_001017440	71275350	Q9BXU9	CABP8_HUMAN	0			5	1030	-	A	A		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	Missense_Mutation	168			Cytoplasmic (Potential).			
CALN1	83698		GRCh37	7	71571179	71571179	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000395275.2:c.345C>T	p.Ser115=	p.S115=	ENST00000395275	NM_031468.3	115	agC/agT	0																																																																																																																																																																																																																																												
CALR3	125972	broad.mit.edu	GRCh37	19	16593572	16593572	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0129-01	TCGA-06-0129-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269881.3:c.703G>A	p.Ala235Thr	p.A235T	ENST00000269881	NM_145046.4	235	Gcc/Acc	0			1			T	A/T	uc002ned.2	protein_coding	YES	CCDS12344.1			703/1155										0	c.(703-705)GCC>ACC			Gene3D:2.60.120.200,Pfam_domain:PF00262,PIRSF_domain:PIRSF002356,Prints_domain:PR00626,hmmpanther:PTHR11073,hmmpanther:PTHR11073:SF3,Superfamily_domains:SSF63887	calreticulin 3 precursor				ENSP00000269881		9-Jun									COSM2149495	9-Jun	.		ENST00000269881	Transcript	1		protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding	ENSG00000269058	g.chr19:16593572C>T	20407			MODERATE		0.62	neutral	getma.org/?cm=msa&ty=f&p=CALR3_HUMAN&rb=21&re=318&var=A235T	getma.org/pdb.php?prot=CALR3_HUMAN&from=21&to=318&var=A235T	getma.org/?cm=var&var=hg19,19,16593572,C,T&fts=all	A235T	--	--	1																																		MED26_uc002nee.2_RNA	1	1		benign(0.088)	p.A235T	NM_145046	NP_659483		tolerated(0.14)	1	CALR3_HUMAN	CALR3	HGNC	Q96L12	CALR3_HUMAN					6	766	-			UPI000013D85C	235			4 X approximate repeats.|P-domain.|1-4.		SNV	CALR3,missense_variant,p.Ala235Thr,ENST00000269881,NM_145046.4;CALR3,downstream_gene_variant,,ENST00000600762,;CALR3,non_coding_transcript_exon_variant,,ENST00000602234,;CTD-3222D19.2,3_prime_UTR_variant,,ENST00000409035,;	uc002ned.2	c.703G>A	766/1292	2	2			c.703G>A						19	SNP	c.(703-705)GCC>ACC	34	34				0	Broad	calreticulin 3 precursor			16593572		0.458	ENSG00000269058	2544	g.chr19:16593572C>T	protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding							78.887831	KEEP	17	12	-1	18	11	17	12	-1	78.949919	18	11	0.462963	1	0	0	0	0	1	0	0	0	--	--		0	T			MED26_uc002nee.2_RNA	15	GBM-06-0129-TP	p.A235T	C	CTGGTGCTGGCGTCCAGAAAA	NM_145046	NP_659483	16593572	Q96L12	CALR3_HUMAN	0			6	766	-	T	T			Missense_Mutation	235			4 X approximate repeats.|P-domain.|1-4.			
CALY	50632		GRCh37	10	135142374	135142374	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000252939.4:c.120G>A	p.Pro40=	p.P40=	ENST00000252939	NM_015722.3	40	ccG/ccA	0																																																																																																																																																																																																																																												
CAMK1	8536	broad.mit.edu	GRCh37	3	9799491	9799491	+	stop_gained	Nonsense_Mutation	SNP	T	T	A			TCGA-06-5418-01	TCGA-06-5418-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256460.3:c.952A>T	p.Lys318Ter	p.K318*	ENST00000256460	NM_003656.4	318	Aaa/Taa	0			1			A	K/*	uc003bst.2	protein_coding	YES	CCDS2582.1			952/1113									ovary(1)|skin(1)	2	c.(952-954)AAA>TAA			hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF113	calcium/calmodulin-dependent protein kinase I				ENSP00000256460		12-Nov									COSM2153330	12-Nov	.		ENST00000256460	Transcript			cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	ENSG00000134072	g.chr3:9799491T>A	1459			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,3,9799491,T,A&fts=all	K318*	--	--	1																																		OGG1_uc003bsk.2_Intron|OGG1_uc003bsl.2_Intron|OGG1_uc003bsm.2_Intron|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|CAMK1_uc003bsu.2_RNA|CAMK1_uc003bss.2_Nonsense_Mutation_p.K92*|uc003bsv.1_5'Flank	1	1			p.K318*	NM_003656	NP_003647			1	KCC1A_HUMAN	CAMK1	HGNC	Q14012	KCC1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0475)	B0YIY3_HUMAN		11	1130	-	Medulloblastoma(99;0.227)		UPI00000534BB	318			Nuclear export signal (By similarity).		SNV	CAMK1,stop_gained,p.Lys318Ter,ENST00000256460,NM_003656.4;CAMK1,stop_gained,p.Lys165Ter,ENST00000421120,;OGG1,intron_variant,,ENST00000302036,NM_016821.2;OGG1,intron_variant,,ENST00000302008,NM_016828.2;OGG1,intron_variant,,ENST00000349503,NM_016826.2;OGG1,intron_variant,,ENST00000449570,NM_016829.2;OGG1,intron_variant,,ENST00000352937,;OGG1,intron_variant,,ENST00000383826,NM_016827.2;OGG1,intron_variant,,ENST00000426518,;OGG1,downstream_gene_variant,,ENST00000339511,NM_016819.3;OGG1,downstream_gene_variant,,ENST00000344629,;OGG1,downstream_gene_variant,,ENST00000302003,NM_016820.3,NM_002542.5;OGG1,downstream_gene_variant,,ENST00000441094,;CAMK1,downstream_gene_variant,,ENST00000411972,;OGG1,downstream_gene_variant,,ENST00000416333,;OGG1,downstream_gene_variant,,ENST00000383825,;CAMK1,3_prime_UTR_variant,,ENST00000397277,;OGG1,non_coding_transcript_exon_variant,,ENST00000602976,;CAMK1,non_coding_transcript_exon_variant,,ENST00000496534,;CAMK1,non_coding_transcript_exon_variant,,ENST00000482803,;OGG1,downstream_gene_variant,,ENST00000425665,;OGG1,downstream_gene_variant,,ENST00000429146,;	uc003bst.2	c.952A>T	1130/1488	5	2			c.952A>T						3	SNP	c.(952-954)AAA>TAA	35	35			ovary(1)|skin(1)	2	Broad	calcium/calmodulin-dependent protein kinase I			9799491		0.612	ENSG00000134072	2547	g.chr3:9799491T>A	cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			25			25	58.453542	KEEP	19	15	-1	37	46	19	15	-1	62.968757	37	46	0.277228	1	0	0	0	0	0	1	0	0	--	--		0	A			OGG1_uc003bsk.2_Intron|OGG1_uc003bsl.2_Intron|OGG1_uc003bsm.2_Intron|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|CAMK1_uc003bsu.2_RNA|CAMK1_uc003bss.2_Nonsense_Mutation_p.K92*|uc003bsv.1_5'Flank	100	GBM-06-5418-TP	p.K318*	T	AGCTGCAGTTTCCTCATGTGC	NM_003656	NP_003647	9799491	Q14012	KCC1A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(96;0.0475)	11	1130	-	A	A	Medulloblastoma(99;0.227)		Nonsense_Mutation	318			Nuclear export signal (By similarity).			
CAMK1	0	broad.mit.edu	GRCh37	3	9802446	9802446	+	synonymous_variant	Silent	SNP	G	G	A	rs138951531		TCGA-32-5222-01	TCGA-32-5222-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256460.3:c.639C>T	p.Cys213=	p.C213=	ENST00000256460	NM_003656.4	213	tgC/tgT	0	A:0		1			A	C	uc003bst.2	protein_coding	YES	CCDS2582.1			639/1113									ovary(1)|skin(1)	2	c.(637-639)TGC>TGT			Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF113,SMART_domains:SM00220,Superfamily_domains:SSF56112	calcium/calmodulin-dependent protein kinase I			A:0.0001	ENSP00000256460		12-Aug	8.24E-06					1.50E-05			rs138951531,COSM3408926	12-Aug	.		ENST00000256460	Transcript			cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	ENSG00000134072	g.chr3:9802446G>A	1459			LOW								--	--	1																																		OGG1_uc003bsk.2_Intron|OGG1_uc003bsl.2_Intron|OGG1_uc003bsm.2_Intron|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|CAMK1_uc003bsu.2_RNA|CAMK1_uc003bss.2_5'Flank|uc003bsv.1_RNA	0,1	1			p.C213C	NM_003656	NP_003647			0,1	KCC1A_HUMAN	CAMK1	HGNC	Q14012	KCC1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0475)	B0YIY3_HUMAN		8	817	-	Medulloblastoma(99;0.227)		UPI00000534BB	213			Protein kinase.		SNV	CAMK1,synonymous_variant,p.=,ENST00000256460,NM_003656.4;CAMK1,synonymous_variant,p.=,ENST00000421120,;OGG1,intron_variant,,ENST00000302036,NM_016821.2;OGG1,intron_variant,,ENST00000302008,NM_016828.2;OGG1,intron_variant,,ENST00000349503,NM_016826.2;OGG1,intron_variant,,ENST00000449570,NM_016829.2;OGG1,intron_variant,,ENST00000352937,;OGG1,intron_variant,,ENST00000383826,NM_016827.2;OGG1,intron_variant,,ENST00000426518,;OGG1,downstream_gene_variant,,ENST00000339511,NM_016819.3;OGG1,downstream_gene_variant,,ENST00000344629,;OGG1,downstream_gene_variant,,ENST00000302003,NM_016820.3,NM_002542.5;OGG1,downstream_gene_variant,,ENST00000441094,;CAMK1,downstream_gene_variant,,ENST00000411972,;OGG1,downstream_gene_variant,,ENST00000416333,;OGG1,downstream_gene_variant,,ENST00000383825,;CAMK1,3_prime_UTR_variant,,ENST00000397277,;OGG1,non_coding_transcript_exon_variant,,ENST00000602976,;CAMK1,upstream_gene_variant,,ENST00000496534,;OGG1,downstream_gene_variant,,ENST00000425665,;OGG1,downstream_gene_variant,,ENST00000429146,;CAMK1,upstream_gene_variant,,ENST00000482803,;	uc003bst.2	c.639C>T	817/1488	2	2			c.639C>T						3	SNP	c.(637-639)TGC>TGT	20	20			ovary(1)|skin(1)	2	Broad	calcium/calmodulin-dependent protein kinase I			9802446		0.557	ENSG00000134072	2547	g.chr3:9802446G>A	cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			25			25	-19.706793	KEEP	3	1	-1	53	60	3	1	-1	7.093746	53	60	0.035088	1	0	0	0	0	0	0	1	0	--	--		0	A			OGG1_uc003bsk.2_Intron|OGG1_uc003bsl.2_Intron|OGG1_uc003bsm.2_Intron|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|CAMK1_uc003bsu.2_RNA|CAMK1_uc003bss.2_5'Flank|uc003bsv.1_RNA	249	GBM-32-5222-TP	p.C213C	G	GAGGGTAACCGCAGAGCCTGG	NM_003656	NP_003647	9802446	Q14012	KCC1A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(96;0.0475)	8	817	-	A	A	Medulloblastoma(99;0.227)		Silent	213			Protein kinase.			
CAMK1D	0	broad.mit.edu	GRCh37	10	12802954	12802954	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5960-01	TCGA-19-5960-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378847.3:c.307G>A	p.Gly103Ser	p.G103S	ENST00000378847	NM_153498.2	103	Ggt/Agt	0			1			A	G/S	uc001ilo.2	protein_coding	YES	CCDS7091.1			307/1158									ovary(1)|stomach(1)	2	c.(307-309)GGT>AGT			PROSITE_profiles:PS50011,hmmpanther:PTHR24347:SF116,hmmpanther:PTHR24347,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	calcium/calmodulin-dependent protein kinase ID				ENSP00000368124		11-Apr									COSM3396980,COSM3396979	11-Apr	.		ENST00000378847	Transcript				calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	ENSG00000183049	g.chr10:12802954G>A	19341			MODERATE		2.89	medium	getma.org/?cm=msa&ty=f&p=KCC1D_HUMAN&rb=23&re=279&var=G103S	getma.org/pdb.php?prot=KCC1D_HUMAN&from=23&to=279&var=G103S	getma.org/?cm=var&var=hg19,10,12802954,G,A&fts=all	G103S	--	--	1																																		CAMK1D_uc001iln.2_Missense_Mutation_p.G103S	1,1	1		probably_damaging(1)	p.G103S	NM_153498	NP_705718		deleterious(0)	1,1	KCC1D_HUMAN	CAMK1D	HGNC	Q8IU85	KCC1D_HUMAN		GBM - Glioblastoma multiforme(1;3.16e-05)			4	542	+			UPI000003CA33	103			Protein kinase.		SNV	CAMK1D,missense_variant,p.Gly103Ser,ENST00000378847,NM_153498.2;CAMK1D,missense_variant,p.Gly103Ser,ENST00000378845,NM_020397.2;	uc001ilo.2	c.307G>A	644/8154	2	2			c.307G>A						10	SNP	c.(307-309)GGT>AGT	44	44			ovary(1)|stomach(1)	2	Broad	calcium/calmodulin-dependent protein kinase ID			12802954		0.443	ENSG00000183049	2548	g.chr10:12802954G>A		calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			482			482	139.459674	KEEP	19	25	-1	3	0	19	25	-1	145.958575	3	0	0.926829	1	0	0	0	0	1	0	0	0	--	--		0	A			CAMK1D_uc001iln.2_Missense_Mutation_p.G103S	178	GBM-19-5960-TP	p.G103S	G	CAGGGTGTCCGGTGGAGAGCT	NM_153498	NP_705718	12802954	Q8IU85	KCC1D_HUMAN	0		GBM - Glioblastoma multiforme(1;3.16e-05)	4	542	+	A	A			Missense_Mutation	103			Protein kinase.			
CAMK1G	57172	broad.mit.edu	GRCh37	1	209773439	209773439	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2558-01	TCGA-06-2558-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000009105.1:c.204G>A	p.Glu68=	p.E68=	ENST00000009105		68	gaG/gaA	0			1			A	E	uc001hhd.2	protein_coding	YES	CCDS1486.1			204/1431									breast(1)	1	c.(202-204)GAG>GAA			Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:3.30.200.20,hmmpanther:PTHR24347:SF114,hmmpanther:PTHR24347,PROSITE_profiles:PS50011	calcium/calmodulin-dependent protein kinase IG				ENSP00000009105		13-Mar									COSM3400263	13-Mar	.		ENST00000009105	Transcript				Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	ENSG00000008118	g.chr1:209773439G>A	14585			LOW								--	--	1																																		CAMK1G_uc001hhf.3_Silent_p.E68E|CAMK1G_uc001hhe.2_Silent_p.E68E	1	1			p.E68E	NM_020439	NP_065172			1	KCC1G_HUMAN	CAMK1G	HGNC	Q96NX5	KCC1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0475)			3	306	+			UPI0000049BF8	68			Protein kinase.		SNV	CAMK1G,synonymous_variant,p.=,ENST00000009105,;CAMK1G,synonymous_variant,p.=,ENST00000361322,NM_020439.2;CAMK1G,synonymous_variant,p.=,ENST00000423146,;	uc001hhd.2	c.204G>A	449/2612	2	2			c.204G>A						1	SNP	c.(202-204)GAG>GAA	43	43			breast(1)	1	Broad	calcium/calmodulin-dependent protein kinase IG			209773439		0.453	ENSG00000008118	2549	g.chr1:209773439G>A		Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	Ovarian(163;530 1939 9680 28669 48710)		224	Ovarian(163;530 1939 9680 28669 48710)		224	33.289379	KEEP	23	16	-1	168	184	23	16	-1	83.589563	168	184	0.104938	1	0	0	0	0	0	0	1	0	--	--		0	A			CAMK1G_uc001hhf.3_Silent_p.E68E|CAMK1G_uc001hhe.2_Silent_p.E68E	82	GBM-06-2558-TP	p.E68E	G	TGGAGAATGAGATTGCTGTGT	NM_020439	NP_065172	209773439	Q96NX5	KCC1G_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0475)	3	306	+	A	A			Silent	68			Protein kinase.			
CAMK2A	0	broad.mit.edu	GRCh37	5	149602771	149602771	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01	TCGA-19-2620-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000348628.6:c.1214G>A	p.Arg405Gln	p.R405Q	ENST00000348628	NM_171825.2	405	cGg/cAg	0			1			T	R/Q	uc003lru.2	protein_coding		CCDS43386.1			1214/1437									large_intestine(1)	1	c.(1213-1215)CGG>CAG			hmmpanther:PTHR24347:SF158,hmmpanther:PTHR24347,Pfam_domain:PF08332,Gene3D:3.10.450.50,Superfamily_domains:SSF54427	calcium/calmodulin-dependent protein kinase II				ENSP00000261793		17/18									COSM3410002	17/18	.		ENST00000348628	Transcript			interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	ENSG00000070808	g.chr5:149602771C>T	1460			MODERATE		0.35	neutral	getma.org/?cm=msa&ty=f&p=KCC2A_HUMAN&rb=346&re=473&var=R405Q	getma.org/pdb.php?prot=KCC2A_HUMAN&from=346&to=473&var=R405Q	getma.org/?cm=var&var=hg19,5,149602771,C,T&fts=all	R405Q	--	--	1																																		CAMK2A_uc003lrs.2_Missense_Mutation_p.R116Q|CAMK2A_uc003lrt.2_Missense_Mutation_p.R416Q	1			benign(0.348)	p.R405Q	NM_171825	NP_741960		deleterious_low_confidence(0.03)	1	KCC2A_HUMAN	CAMK2A	HGNC	Q9UQM7	KCC2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Q7LDD5_HUMAN,D6RHX9_HUMAN,D6RFJ0_HUMAN		17	1429	-		all_hematologic(541;0.224)	UPI00001678B1	405					SNV	CAMK2A,missense_variant,p.Arg405Gln,ENST00000348628,NM_171825.2,NM_015981.3;CAMK2A,missense_variant,p.Arg416Gln,ENST00000398376,;SLC6A7,downstream_gene_variant,,ENST00000524041,;CAMK2A,non_coding_transcript_exon_variant,,ENST00000351010,;	uc003lru.2	c.1214G>A	1880/5322	2	2			c.1214G>A						5	SNP	c.(1213-1215)CGG>CAG	28	28			large_intestine(1)	1	Broad	calcium/calmodulin-dependent protein kinase II			149602771		0.612	ENSG00000070808	2550	g.chr5:149602771C>T	interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			161			161	-5.419218	KEEP	1	2	-1	40	18	1	2	-1	6.630007	40	18	0.052632	1	0	0	0	0	1	0	0	0	--	--		0	T			CAMK2A_uc003lrs.2_Missense_Mutation_p.R116Q|CAMK2A_uc003lrt.2_Missense_Mutation_p.R416Q	162	GBM-19-2620-TP	p.R405Q	C	CTTGCTGTTCCGGGACCACAC	NM_171825	NP_741960	149602771	Q9UQM7	KCC2A_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		17	1429	-	T	T		all_hematologic(541;0.224)	Missense_Mutation	405						
CAMK4	0	broad.mit.edu	GRCh37	5	110818505	110818505	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-28-2514-01	TCGA-28-2514-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282356.4:c.851A>C	p.Asp284Ala	p.D284A	ENST00000282356	NM_001744.4	284	gAt/gCt	0			1			C	D/A	uc011cvj.1	protein_coding	YES	CCDS4103.1			851/1422									ovary(3)|lung(2)	5	c.(850-852)GAT>GCT			PROSITE_profiles:PS50011,hmmpanther:PTHR24349,hmmpanther:PTHR24349:SF77,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	calcium/calmodulin-dependent protein kinase IV				ENSP00000282356		11-Oct									COSM3409662	11-Oct	.		ENST00000282356	Transcript			activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	ENSG00000152495	g.chr5:110818505A>C	1464			MODERATE		3.16	medium	getma.org/?cm=msa&ty=f&p=KCC4_HUMAN&rb=46&re=300&var=D284A	getma.org/pdb.php?prot=KCC4_HUMAN&from=46&to=300&var=D284A	getma.org/?cm=var&var=hg19,5,110818505,A,C&fts=all	D284A	--	--	1																																		CAMK4_uc003kpf.2_Missense_Mutation_p.D284A|CAMK4_uc010jbv.2_Missense_Mutation_p.D87A|CAMK4_uc003kpg.2_5'UTR	1	1		probably_damaging(0.992)	p.D284A	NM_001744	NP_001735		deleterious(0.01)	1	KCC4_HUMAN	CAMK4	HGNC	Q16566	KCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)	D6RE65_HUMAN		11	950	+		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)	UPI000000128E	284			Protein kinase.		SNV	CAMK4,missense_variant,p.Asp284Ala,ENST00000282356,NM_001744.4;CAMK4,missense_variant,p.Asp284Ala,ENST00000512453,;CAMK4,non_coding_transcript_exon_variant,,ENST00000512890,;CAMK4,non_coding_transcript_exon_variant,,ENST00000510858,;CAMK4,3_prime_UTR_variant,,ENST00000515231,;CAMK4,3_prime_UTR_variant,,ENST00000514007,;CAMK4,non_coding_transcript_exon_variant,,ENST00000509645,;	uc011cvj.1	c.851A>C	1249/12240	3	3			c.851A>C						5	SNP	c.(850-852)GAT>GCT	56	56			ovary(3)|lung(2)	5	Broad	calcium/calmodulin-dependent protein kinase IV			110818505		0.423	ENSG00000152495	2556	g.chr5:110818505A>C	activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			687			687	266.323512	KEEP	40	56	-1	66	65	40	56	-1	267.970878	66	65	0.401042	1	0	0	0	0	1	0	0	0	--	--		0	C			CAMK4_uc003kpf.2_Missense_Mutation_p.D284A|CAMK4_uc010jbv.2_Missense_Mutation_p.D87A|CAMK4_uc003kpg.2_5'UTR	214	GBM-28-2514-TP	p.D284A	A	ATTGTTTTGGATCCAAAGAAA	NM_001744	NP_001735	110818505	Q16566	KCC4_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)	11	950	+	C	C		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)	Missense_Mutation	284			Protein kinase.			
CAMKK1	84254	broad.mit.edu	GRCh37	17	3779601	3779601	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0124-01	TCGA-06-0124-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000158166.5:c.1026C>T	p.Asp342=	p.D342=	ENST00000158166	NM_172207.2	342	gaC/gaT	0			1			A	D	uc002fwt.2	protein_coding		CCDS11038.1			912/1518									ovary(1)	1	c.(910-912)GAC>GAT			Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR24347:SF141,hmmpanther:PTHR24347,PROSITE_profiles:PS50011	calcium/calmodulin-dependent protein kinase 1				ENSP00000323118		16-Oct	4.12E-05		8.64E-05			4.50E-05		6.06E-05	rs752862171,COSM2149262,COSM2149261	16-Oct	.		ENST00000348335	Transcript			synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	ENSG00000004660	g.chr17:3779601G>A	1469			LOW								--	--	1																																		CAMKK1_uc002fwu.2_Silent_p.D304D|CAMKK1_uc002fwv.2_Silent_p.D342D	0,1,1				p.D304D	NM_172206	NP_757343			0,1,1	KKCC1_HUMAN	CAMKK1	HGNC	Q8N5S9	KKCC1_HUMAN		LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)			10	1006	-			UPI000000DA4F	304			Protein kinase.		SNV	CAMKK1,synonymous_variant,p.=,ENST00000381771,;CAMKK1,synonymous_variant,p.=,ENST00000348335,NM_032294.2;CAMKK1,synonymous_variant,p.=,ENST00000381769,NM_172206.1;CAMKK1,synonymous_variant,p.=,ENST00000158166,NM_172207.2;CAMKK1,downstream_gene_variant,,ENST00000573483,;	uc002fwt.2	c.912C>T	1061/3563	2	2			c.912C>T						17	SNP	c.(910-912)GAC>GAT	38	38			ovary(1)	1	Broad	calcium/calmodulin-dependent protein kinase 1			3779601		0.612	ENSG00000004660	2557	g.chr17:3779601G>A	synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			485			485	72.05581	KEEP	19	12	-1	43	39	19	12	-1	77.052994	43	39	0.269231	1	0	0	0	0	0	0	1	0	--	--		0	A			CAMKK1_uc002fwu.2_Silent_p.D304D|CAMKK1_uc002fwv.2_Silent_p.D342D	11	GBM-06-0124-TP	p.D304D	G	ACAGCTGAGCGTCGTTCCCCT	NM_172206	NP_757343	3779601	Q8N5S9	KKCC1_HUMAN	0		LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)	10	1006	-	A	A			Silent	304			Protein kinase.			
CAMKK1	84254	broad.mit.edu	GRCh37	17	3772866	3772866	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5856-01	TCGA-06-5856-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000158166.5:c.1370C>T	p.Ser457Leu	p.S457L	ENST00000158166	NM_172207.2	457	tCg/tTg	0			1			A	S/L	uc002fwt.2	protein_coding		CCDS11038.1			1256/1518									ovary(1)	1	c.(1255-1257)TCG>TTG			Superfamily_domains:SSF56112,Gene3D:1.10.510.10,hmmpanther:PTHR24347:SF141,hmmpanther:PTHR24347	calcium/calmodulin-dependent protein kinase 1				ENSP00000323118		14/16	5.77E-05	9.61E-05				7.49E-05		6.06E-05	rs552614551,COSM978632,COSM1153067	14/16	.		ENST00000348335	Transcript			synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	ENSG00000004660	g.chr17:3772866G>A	1469			MODERATE		-0.235	neutral	getma.org/?cm=msa&ty=f&p=KKCC1_HUMAN&rb=410&re=505&var=S419L	NA	getma.org/?cm=var&var=hg19,17,3772866,G,A&fts=all	S419L	--	--	1																																		CAMKK1_uc002fwu.2_Missense_Mutation_p.S419L|CAMKK1_uc002fwv.2_Missense_Mutation_p.S457L	0,1,1			benign(0.056)	p.S419L	NM_172206	NP_757343		tolerated(0.4)	0,1,1	KKCC1_HUMAN	CAMKK1	HGNC	Q8N5S9	KKCC1_HUMAN		LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)			14	1350	-			UPI000000DA4F	419					SNV	CAMKK1,missense_variant,p.Ser457Leu,ENST00000381771,;CAMKK1,missense_variant,p.Ser419Leu,ENST00000348335,NM_032294.2;CAMKK1,missense_variant,p.Ser446Leu,ENST00000381769,NM_172206.1;CAMKK1,missense_variant,p.Ser457Leu,ENST00000158166,NM_172207.2;	uc002fwt.2	c.1256C>T	1405/3563	2	2			c.1256C>T						17	SNP	c.(1255-1257)TCG>TTG	36	36			ovary(1)	1	Broad	calcium/calmodulin-dependent protein kinase 1			3772866		0.632	ENSG00000004660	2557	g.chr17:3772866G>A	synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			485			485	-2.624878	KEEP	6	4	-1	61	66	6	4	-1	19.885121	61	66	0.07438	1	0	0	0	0	1	0	0	0	--	--		0	A			CAMKK1_uc002fwu.2_Missense_Mutation_p.S419L|CAMKK1_uc002fwv.2_Missense_Mutation_p.S457L	101	GBM-06-5856-TP	p.S419L	G	CTCCTCCTCCGAAGGAAGGGG	NM_172206	NP_757343	3772866	Q8N5S9	KKCC1_HUMAN	0		LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)	14	1350	-	A	A			Missense_Mutation	419						
CAMKK1	0	broad.mit.edu	GRCh37	17	3779538	3779538	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-1043-01	TCGA-14-1043-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000348335.2:c.975C>T	p.Ser325=	p.S325=	ENST00000348335	NM_032294.2	325	tcC/tcT	0		A:0	1	A:0		A	S	uc002fwt.2	protein_coding		CCDS11038.1			975/1518									ovary(1)	1	c.(973-975)TCC>TCT			Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR24347:SF141,hmmpanther:PTHR24347,PROSITE_profiles:PS50011	calcium/calmodulin-dependent protein kinase 1		A:0		ENSP00000323118	A:0	16-Oct	0.000222		8.70E-05		0.000155			0.00152	rs560406629,COSM3402825,COSM3402824	16-Oct	common_variant		ENST00000348335	Transcript		A:0.0006	synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	ENSG00000004660	g.chr17:3779538G>A	1469			LOW								--	--	1																																		CAMKK1_uc002fwu.2_Silent_p.S325S|CAMKK1_uc002fwv.2_Silent_p.S363S	0,1,1				p.S325S	NM_172206	NP_757343	A:0.0031		0,1,1	KKCC1_HUMAN	CAMKK1	HGNC	Q8N5S9	KKCC1_HUMAN		LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)			10	1069	-			UPI000000DA4F	325			Protein kinase.		SNV	CAMKK1,synonymous_variant,p.=,ENST00000381771,;CAMKK1,synonymous_variant,p.=,ENST00000348335,NM_032294.2;CAMKK1,synonymous_variant,p.=,ENST00000381769,NM_172206.1;CAMKK1,synonymous_variant,p.=,ENST00000158166,NM_172207.2;CAMKK1,downstream_gene_variant,,ENST00000573483,;	uc002fwt.2	c.975C>T	1124/3563	2	2			c.975C>T						17	SNP	c.(973-975)TCC>TCT	46	46			ovary(1)	1	Broad	calcium/calmodulin-dependent protein kinase 1			3779538		0.622	ENSG00000004660	2557	g.chr17:3779538G>A	synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			485			485	28.71251	KEEP	7	6	-1	14	16	7	6	-1	30.220354	14	16	0.289474	1	0	0	0	0	0	0	1	0	--	--		0	A			CAMKK1_uc002fwu.2_Silent_p.S325S|CAMKK1_uc002fwv.2_Silent_p.S363S	143	GBM-14-1043-TP	p.S325S	G	AGCTCTGGCCGGAATCAGAAA	NM_172206	NP_757343	3779538	Q8N5S9	KKCC1_HUMAN	0		LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)	10	1069	-	A	A			Silent	325			Protein kinase.			
CAMKV	0	broad.mit.edu	GRCh37	3	49896857	49896857	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-14-1043-01	TCGA-14-1043-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000477224.1:c.1400C>A	p.Pro467Gln	p.P467Q	ENST00000477224		467	cCg/cAg	0			1			T	P/Q	uc003cxt.1	protein_coding	YES	CCDS33762.1			1400/1506									ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1)	7	c.(1399-1401)CCG>CAG				CaM kinase-like vesicle-associated				ENSP00000419195		11-Nov									COSM3408754,COSM3408753	11-Nov	.		ENST00000477224	Transcript				cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity	ENSG00000164076	g.chr3:49896857G>T	28788			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=CAMKV_HUMAN&rb=459&re=501&var=P467Q	NA	getma.org/?cm=var&var=hg19,3,49896857,G,T&fts=all	P467Q	--	--	1																																		TRAIP_uc003cxs.1_5'Flank|TRAIP_uc010hla.1_5'Flank|TRAIP_uc011bcx.1_5'Flank|CAMKV_uc011bcy.1_Missense_Mutation_p.P392Q|CAMKV_uc003cxv.1_Missense_Mutation_p.P439Q|CAMKV_uc003cxw.1_Missense_Mutation_p.P299Q|CAMKV_uc003cxx.1_Missense_Mutation_p.P299Q|CAMKV_uc003cxu.2_Missense_Mutation_p.P436Q|CAMKV_uc011bcz.1_Missense_Mutation_p.P399Q|CAMKV_uc011bda.1_Missense_Mutation_p.P393Q	1,1	1		possibly_damaging(0.627)	p.P467Q	NM_024046	NP_076951		deleterious_low_confidence(0)	1,1	CAMKV_HUMAN	CAMKV	HGNC	Q8NCB2	CAMKV_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	B4DM24_HUMAN		11	1593	-			UPI000004184F	467			Ala-rich.		SNV	CAMKV,missense_variant,p.Pro467Gln,ENST00000477224,;CAMKV,missense_variant,p.Pro439Gln,ENST00000296471,;CAMKV,missense_variant,p.Pro436Gln,ENST00000488336,;CAMKV,missense_variant,p.Pro392Gln,ENST00000467248,;CAMKV,missense_variant,p.Pro393Gln,ENST00000466940,;CAMKV,synonymous_variant,p.=,ENST00000463537,NM_024046.3;TRAIP,upstream_gene_variant,,ENST00000331456,NM_005879.2;TRAIP,upstream_gene_variant,,ENST00000469027,;TRAIP,upstream_gene_variant,,ENST00000482582,;TRAIP,upstream_gene_variant,,ENST00000482243,;CAMKV,downstream_gene_variant,,ENST00000480398,;RN7SL217P,downstream_gene_variant,,ENST00000584520,;CAMKV,downstream_gene_variant,,ENST00000498324,;TRAIP,upstream_gene_variant,,ENST00000473863,;CAMKV,3_prime_UTR_variant,,ENST00000487726,;CAMKV,non_coding_transcript_exon_variant,,ENST00000475665,;TRAIP,upstream_gene_variant,,ENST00000477546,;CAMKV,downstream_gene_variant,,ENST00000483811,;CAMKV,downstream_gene_variant,,ENST00000466535,;CAMKV,downstream_gene_variant,,ENST00000472895,;TRAIP,upstream_gene_variant,,ENST00000473195,;CAMKV,downstream_gene_variant,,ENST00000478149,;CAMKV,downstream_gene_variant,,ENST00000476105,;TRAIP,upstream_gene_variant,,ENST00000489948,;CAMKV,downstream_gene_variant,,ENST00000479704,;	uc003cxt.1	c.1400C>A	1879/3314	2	2			c.1400C>A						3	SNP	c.(1399-1401)CCG>CAG	26	26			ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1)	7	Broad	CaM kinase-like vesicle-associated			49896857		0.652	ENSG00000164076	2559	g.chr3:49896857G>T		cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			82			82	67.59785	KEEP	15	16	0.483870968	42	27	15	16	0.483870968	71.053839	42	27	0.292135	1	0	0	0	0	1	0	0	0	--	--		0	T			TRAIP_uc003cxs.1_5'Flank|TRAIP_uc010hla.1_5'Flank|TRAIP_uc011bcx.1_5'Flank|CAMKV_uc011bcy.1_Missense_Mutation_p.P392Q|CAMKV_uc003cxv.1_Missense_Mutation_p.P439Q|CAMKV_uc003cxw.1_Missense_Mutation_p.P299Q|CAMKV_uc003cxx.1_Missense_Mutation_p.P299Q|CAMKV_uc003cxu.2_Missense_Mutation_p.P436Q|CAMKV_uc011bcz.1_Missense_Mutation_p.P399Q|CAMKV_uc011bda.1_Missense_Mutation_p.P393Q	143	GBM-14-1043-TP	p.P467Q	G	TGTGCTGTCCGGCTGGGCCAT	NM_024046	NP_076951	49896857	Q8NCB2	CAMKV_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	11	1593	-	T	T			Missense_Mutation	467			Ala-rich.			
CAMKV	79012		GRCh37	3	49898275	49898275	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000477224.1:c.649A>G	p.Asn217Asp	p.N217D	ENST00000477224		217	Aat/Gat	0																																																																																																																																																																																																																																												
CAMSAP1	0	broad.mit.edu	GRCh37	9	138714648	138714648	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01	TCGA-12-0692-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389532.4:c.1859C>T	p.Pro620Leu	p.P620L	ENST00000389532	NM_015447.3	620	cCg/cTg	0			1			A	P/L	uc004cgr.3	protein_coding	YES	CCDS35176.2			1859/4809									ovary(1)|central_nervous_system(1)|pancreas(1)	3	c.(1858-1860)CCG>CTG			hmmpanther:PTHR21595,hmmpanther:PTHR21595:SF3	calmodulin regulated spectrin-associated protein				ENSP00000374183		17-Nov	1.65E-05					3.00E-05			rs756052830,COSM2154283,COSM3413458	17-Nov	.		ENST00000389532	Transcript				cytoplasm|microtubule		ENSG00000130559	g.chr9:138714648G>A	19946			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=CAMP1_HUMAN&rb=513&re=712&var=P620L	NA	getma.org/?cm=var&var=hg19,9,138714648,G,A&fts=all	P620L	--	--	1																																		CAMSAP1_uc004cgq.3_Missense_Mutation_p.P510L|CAMSAP1_uc010nbg.2_Missense_Mutation_p.P342L	0,1,1	1		benign(0.004)	p.P620L	NM_015447	NP_056262		tolerated(0.72)	0,1,1	CAMP1_HUMAN	CAMSAP1	HGNC	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)			11	1859	-			UPI0000EDA283	620					SNV	CAMSAP1,missense_variant,p.Pro620Leu,ENST00000389532,NM_015447.3;CAMSAP1,missense_variant,p.Pro342Leu,ENST00000312405,;CAMSAP1,missense_variant,p.Pro631Leu,ENST00000409386,;CAMSAP1,non_coding_transcript_exon_variant,,ENST00000483991,;CAMSAP1,upstream_gene_variant,,ENST00000493088,;CAMSAP1,upstream_gene_variant,,ENST00000482664,;CAMSAP1,upstream_gene_variant,,ENST00000487868,;	uc004cgr.3	c.1859C>T	1924/7696	2	2			c.1859C>T						9	SNP	c.(1858-1860)CCG>CTG	31	31			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Broad	calmodulin regulated spectrin-associated protein			138714648		0.542	ENSG00000130559	2562	g.chr9:138714648G>A		cytoplasm|microtubule								174.451282	KEEP	40	23	-1	36	30	40	23	-1	174.569287	36	30	0.465517	1	0	0	0	0	1	0	0	0	--	--		0	A			CAMSAP1_uc004cgq.3_Missense_Mutation_p.P510L|CAMSAP1_uc010nbg.2_Missense_Mutation_p.P342L	122	GBM-12-0692-TP	p.P620L	G	GATGCTCCTCGGTCTCCCTTC	NM_015447	NP_056262	138714648	Q5T5Y3	CAMP1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	11	1859	-	A	A			Missense_Mutation	620						
CAMSAP2	23271	broad.mit.edu	GRCh37	1	200784743	200784743	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0210-01	TCGA-06-0210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358823.2:c.616C>G	p.His206Asp	p.H206D	ENST00000358823	NM_203459.1	206	Cac/Gac	0			1			G	H/D	uc001gvl.2	protein_coding					616/4470									ovary(2)|large_intestine(1)|pancreas(1)	4	c.(616-618)CAC>GAC			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00307,hmmpanther:PTHR21595,hmmpanther:PTHR21595:SF1	calmodulin regulated spectrin-associated protein				ENSP00000236925		18-Apr									COSM2150699,COSM3400180	18-Apr	.		ENST00000236925	Transcript				cytoplasm|microtubule	protein binding	ENSG00000118200	g.chr1:200784743C>G	29188			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=CAMP2_HUMAN&rb=178&re=335&var=H206D	NA	getma.org/?cm=var&var=hg19,1,200784743,C,G&fts=all	H206D	--	--	1																																		CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.H206D|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.H206D	1,1			benign(0.186)	p.H206D	NM_203459	NP_982284		tolerated(0.18)	1,1	CAMP2_HUMAN	CAMSAP2	HGNC	Q08AD1	CAMP2_HUMAN			B3KX64_HUMAN		4	886	+			UPI0000160246	206					SNV	CAMSAP2,missense_variant,p.His206Asp,ENST00000358823,NM_203459.1;CAMSAP2,missense_variant,p.His206Asp,ENST00000236925,;CAMSAP2,missense_variant,p.His206Asp,ENST00000413307,;	uc001gvl.2	c.616C>G	665/7161	4	4			c.616C>G						1	SNP	c.(616-618)CAC>GAC	30	30			ovary(2)|large_intestine(1)|pancreas(1)	4	Broad	calmodulin regulated spectrin-associated protein			200784743		0.269	ENSG00000118200	2563	g.chr1:200784743C>G		cytoplasm|microtubule	protein binding							26.787176	KEEP	1	9	-1	14	13	1	9	-1	28.098836	14	13	0.275862	1	0	0	0	0	1	0	0	0	--	--		0	G			CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.H206D|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.H206D	47	GBM-06-0210-TP	p.H206D	C	GAAAGAACATCACACAGTTGA	NM_203459	NP_982284	200784743	Q08AD1	CAMP2_HUMAN	0			4	886	+	G	G			Missense_Mutation	206						
CAMSAP2	23271	broad.mit.edu	GRCh37	1	200818182	200818182	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0221-01	TCGA-06-0221-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358823.2:c.2285G>A	p.Arg762His	p.R762H	ENST00000358823	NM_203459.1	762	cGt/cAt	0			1			A	R/H	uc001gvl.2	protein_coding					2318/4470									ovary(2)|large_intestine(1)|pancreas(1)	4	c.(2317-2319)CGT>CAT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21595,hmmpanther:PTHR21595:SF1	calmodulin regulated spectrin-associated protein				ENSP00000236925		18-Dec									COSM3400181,COSM3400182	18-Dec	.		ENST00000236925	Transcript				cytoplasm|microtubule	protein binding	ENSG00000118200	g.chr1:200818182G>A	29188			MODERATE		2.46	medium	getma.org/?cm=msa&ty=f&p=CAMP2_HUMAN&rb=736&re=935&var=R773H	NA	getma.org/?cm=var&var=hg19,1,200818182,G,A&fts=all	R773H	--	--	1																																		CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.R762H|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.R746H	1,1			probably_damaging(0.985)	p.R773H	NM_203459	NP_982284		deleterious(0)	1,1	CAMP2_HUMAN	CAMSAP2	HGNC	Q08AD1	CAMP2_HUMAN			B3KX64_HUMAN		12	2588	+			UPI0000160246	773					SNV	CAMSAP2,missense_variant,p.Arg762His,ENST00000358823,NM_203459.1;CAMSAP2,missense_variant,p.Arg773His,ENST00000236925,;CAMSAP2,missense_variant,p.Arg746His,ENST00000413307,;CAMSAP2,intron_variant,,ENST00000447701,;	uc001gvl.2	c.2318G>A	2367/7161	1	1			c.2318G>A						1	SNP	c.(2317-2319)CGT>CAT	54	54			ovary(2)|large_intestine(1)|pancreas(1)	4	Broad	calmodulin regulated spectrin-associated protein			200818182		0.448	ENSG00000118200	2563	g.chr1:200818182G>A		cytoplasm|microtubule	protein binding							-21.408041	KEEP	2	2	-1	57	66	2	2	-1	7.10197	57	66	0.033333	1	0	0	0	0	1	0	0	0	--	--		0	A			CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.R762H|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.R746H	53	GBM-06-0221-TP	p.R773H	G	GAAAAGAGGCGTGCTATAGAA	NM_203459	NP_982284	200818182	Q08AD1	CAMP2_HUMAN	0			12	2588	+	A	A			Missense_Mutation	773						
CAMSAP2	23271		GRCh37	1	200823985	200823985	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000358823.2:c.3864C>T	p.Asn1288=	p.N1288=	ENST00000358823	NM_203459.1	1288	aaC/aaT	0																																																																																																																																																																																																																																												
CAMSAP3	0	broad.mit.edu	GRCh37	19	7676675	7676675	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-6174-01	TCGA-26-6174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000160298.4:c.1296G>A	p.Ser432=	p.S432=	ENST00000160298	NM_020902.1	432	tcG/tcA	0			1			A	S	uc002mgv.3	protein_coding		CCDS42489.1			1296/3750									pancreas(1)	1	c.(1294-1296)TCG>TCA			hmmpanther:PTHR21595,hmmpanther:PTHR21595:SF2	NEZHA isoform 2				ENSP00000160298		17-Nov									COSM1590410,COSM1590409,COSM1003296	17-Nov	.		ENST00000160298	Transcript			epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	ENSG00000076826	g.chr19:7676675G>A	29307			LOW								--	--	1																																		KIAA1543_uc002mgu.3_Silent_p.S459S|KIAA1543_uc002mgw.2_5'Flank	1,1,1				p.S432S	NM_020902	NP_065953			1,1,1	CAMP3_HUMAN	CAMSAP3	HGNC	Q9P1Y5	CAMP3_HUMAN			Q8WZ12_HUMAN		11	1397	+			UPI0000197405	432					SNV	CAMSAP3,synonymous_variant,p.=,ENST00000446248,NM_001080429.2;CAMSAP3,synonymous_variant,p.=,ENST00000160298,NM_020902.1;CAMSAP3,upstream_gene_variant,,ENST00000595692,;CAMSAP3,upstream_gene_variant,,ENST00000593434,;	uc002mgv.3	c.1296G>A	1397/3889	2	2			c.1296G>A						19	SNP	c.(1294-1296)TCG>TCA	32	32			pancreas(1)	1	Broad	NEZHA isoform 2			7676675		0.687	ENSG00000076826	8104	g.chr19:7676675G>A	epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding							7.420289	KEEP	3	0	-1	7	3	3	0	-1	8.282372	7	3	0.230769	1	0	0	0	0	0	0	1	0	--	--		0	A			KIAA1543_uc002mgu.3_Silent_p.S459S|KIAA1543_uc002mgw.2_5'Flank	188	GBM-26-6174-TP	p.S432S	G	CTGTGAGCTCGGACAGCCTGG	NM_020902	NP_065953	7676675	Q9P1Y5	CAMP3_HUMAN	0			11	1397	+	A	A			Silent	432						
CAMTA1	23261	broad.mit.edu	GRCh37	1	7723936	7723936	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0132-01	TCGA-06-0132-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303635.7:c.1329C>T	p.Ala443=	p.A443=	ENST00000303635	NM_015215.2	443	gcC/gcT	0			1			T	A	uc001aoi.2	protein_coding	YES	CCDS30576.1			1329/5022									ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	c.(1327-1329)GCC>GCT			hmmpanther:PTHR23335,hmmpanther:PTHR23335:SF2	calmodulin-binding transcription activator 1				ENSP00000306522		23-Sep									COSM3401012	23-Sep	.		ENST00000303635	Transcript	1		regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	ENSG00000171735	g.chr1:7723936C>T	18806			LOW								--	--	1																																			1	1			p.A443A	NM_015215	NP_056030			1	CMTA1_HUMAN	CAMTA1	HGNC	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)			9	1536	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	UPI00001C1D72	443					SNV	CAMTA1,synonymous_variant,p.=,ENST00000303635,NM_015215.2;CAMTA1,synonymous_variant,p.=,ENST00000439411,;	uc001aoi.2	c.1329C>T	1536/8444	2	2			c.1329C>T						1	SNP	c.(1327-1329)GCC>GCT	27	27			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Broad	calmodulin-binding transcription activator 1			7723936		0.652	ENSG00000171735	2564	g.chr1:7723936C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding							1.787153	KEEP	9	2	-1	71	45	9	2	-1	21.110363	71	45	0.082569	1	0	0	0	0	0	0	1	0	--	--		0	T				17	GBM-06-0132-TP	p.A443A	C	ACAAGTTCGCCTTTCCCACCA	NM_015215	NP_056030	7723936	Q9Y6Y1	CMTA1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	1536	+	T	T	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	Silent	443						
CAMTA1	23261	broad.mit.edu	GRCh37	1	7798426	7798426	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303635.7:c.4066C>T	p.Arg1356Trp	p.R1356W	ENST00000303635	NM_015215.2	1356	Cgg/Tgg	0			1			T	R/W	uc001aoi.2	protein_coding	YES	CCDS30576.1			4066/5022									ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	c.(4066-4068)CGG>TGG			hmmpanther:PTHR23335,hmmpanther:PTHR23335:SF2	calmodulin-binding transcription activator 1				ENSP00000306522		16/23	4.12E-05					7.52E-05			rs777480195,COSM2149748	16/23	.		ENST00000303635	Transcript	1		regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	ENSG00000171735	g.chr1:7798426C>T	18806			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=CMTA1_HUMAN&rb=1163&re=1362&var=R1356W	NA	getma.org/?cm=var&var=hg19,1,7798426,C,T&fts=all	R1356W	--	--	1																																		CAMTA1_uc010nzv.1_Missense_Mutation_p.R443W|CAMTA1_uc001aok.3_Missense_Mutation_p.R399W|CAMTA1_uc001aoj.2_Missense_Mutation_p.R312W	0,1	1		possibly_damaging(0.891)	p.R1356W	NM_015215	NP_056030		deleterious_low_confidence(0)	0,1	CMTA1_HUMAN	CAMTA1	HGNC	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)			16	4273	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	UPI00001C1D72	1356					SNV	CAMTA1,missense_variant,p.Arg1356Trp,ENST00000303635,NM_015215.2;CAMTA1,missense_variant,p.Arg1356Trp,ENST00000439411,;CAMTA1,missense_variant,p.Arg313Trp,ENST00000495233,;	uc001aoi.2	c.4066C>T	4273/8444	1	1			c.4066C>T						1	SNP	c.(4066-4068)CGG>TGG	12	12			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Broad	calmodulin-binding transcription activator 1			7798426		0.512	ENSG00000171735	2564	g.chr1:7798426C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding							113.956141	KEEP	18	22	-1	36	28	18	22	-1	114.971976	36	28	0.389474	1	0	0	0	0	1	0	0	0	--	--		0	T			CAMTA1_uc010nzv.1_Missense_Mutation_p.R443W|CAMTA1_uc001aok.3_Missense_Mutation_p.R399W|CAMTA1_uc001aoj.2_Missense_Mutation_p.R312W	23	GBM-06-0145-TP	p.R1356W	C	GGTGCGTCCACGGGAACCAAT	NM_015215	NP_056030	7798426	Q9Y6Y1	CMTA1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	16	4273	+	T	T	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	Missense_Mutation	1356						
CAMTA1	0	broad.mit.edu	GRCh37	1	7811328	7811329	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-12-5301-01	TCGA-12-5301-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303635.7:c.4767dupA	p.Phe1590IlefsTer19	p.F1590Ifs*19	ENST00000303635	NM_015215.2	1587	caa/cAaa	0			1			A	Q/QX	uc001aoi.2	protein_coding	YES	CCDS30576.1			4759-4760/5022									ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	c.(4759-4761)CAAfs			Pfam_domain:PF00612,PROSITE_profiles:PS50096,hmmpanther:PTHR23335,hmmpanther:PTHR23335:SF2,Superfamily_domains:SSF52540	calmodulin-binding transcription activator 1				ENSP00000306522		20/23	2.47E-05							6.23E-05	rs754008719,COSM1344374	20/23	.		ENST00000303635	Transcript	1		regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	ENSG00000171735	g.chr1:7811328_7811329insA	18806	8		HIGH								--	--	1																																		CAMTA1_uc001aok.3_Frame_Shift_Ins_p.Q630fs|CAMTA1_uc001aoj.2_Frame_Shift_Ins_p.Q550fs|CAMTA1_uc009vmf.2_Frame_Shift_Ins_p.Q177fs	0,1	1			p.Q1587fs	NM_015215	NP_056030			0,1	CMTA1_HUMAN	CAMTA1	HGNC	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)			20	4966_4967	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	UPI00001C1D72	1587			IQ 2.		insertion	CAMTA1,frameshift_variant,p.Phe1590IlefsTer19,ENST00000303635,NM_015215.2;CAMTA1,frameshift_variant,p.Phe1576IlefsTer19,ENST00000439411,;CAMTA1,frameshift_variant,p.Phe554IlefsTer19,ENST00000495233,;CAMTA1,frameshift_variant,p.Phe156IlefsTer19,ENST00000490905,;CAMTA1,frameshift_variant,p.Phe154IlefsTer19,ENST00000476864,;	uc001aoi.2	c.4759_4760insA	4966-4967/8444	5	5			c.4759_4760insA						1	INS	c.(4759-4761)CAAfs	21	21			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Broad	calmodulin-binding transcription activator 1			7811329		0.47	ENSG00000171735	2564	g.chr1:7811328_7811329insA	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding																				0.01	1	0	0	1	1	0	0	0	0	--	--		0	A			CAMTA1_uc001aok.3_Frame_Shift_Ins_p.Q630fs|CAMTA1_uc001aoj.2_Frame_Shift_Ins_p.Q550fs|CAMTA1_uc009vmf.2_Frame_Shift_Ins_p.Q177fs	131	GBM-12-5301-TP	p.Q1587fs	-	TTACTATGAACAAAAAAAATTC	NM_015215	NP_056030	7811328	Q9Y6Y1	CMTA1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	20	4966_4967	+	A	A	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	Frame_Shift_Ins	1587			IQ 2.			
CAND2	23066	broad.mit.edu	GRCh37	3	12858462	12858462	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5412-01	TCGA-06-5412-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000456430.2:c.2031C>T	p.Asp677=	p.D677=	ENST00000456430	NM_001162499.1	677	gaC/gaT	0	T:0.0005		1			T	D	uc003bxk.2	protein_coding	YES	CCDS54554.1			2031/3711									skin(3)|pancreas(1)	4	c.(2029-2031)GAC>GAT			Low_complexity_(Seg):seg,hmmpanther:PTHR12696,hmmpanther:PTHR12696:SF2,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	TBP-interacting protein isoform 1			T:0	ENSP00000387641		15-Oct	6.62E-05	0.000643	8.71E-05			1.55E-05			rs377443431,COSM237113,COSM3408208	15-Oct	common_variant		ENST00000456430	Transcript			positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	ENSG00000144712	g.chr3:12858462C>T	30689			LOW								--	--	1																																		CAND2_uc003bxj.2_Silent_p.D584D	0,1,1	1			p.D677D	NM_001162499	NP_001155971			0,1,1	CAND2_HUMAN	CAND2	HGNC	O75155	CAND2_HUMAN					10	2080	+			UPI00005795FA	677			HEAT 14.		SNV	CAND2,synonymous_variant,p.=,ENST00000456430,NM_001162499.1;CAND2,synonymous_variant,p.=,ENST00000295989,NM_012298.2;CAND2,downstream_gene_variant,,ENST00000446928,;	uc003bxk.2	c.2031C>T	2072/4573	1	1			c.2031C>T						3	SNP	c.(2029-2031)GAC>GAT	13	13			skin(3)|pancreas(1)	4	Broad	TBP-interacting protein isoform 1			12858462		0.662	ENSG00000144712	2567	g.chr3:12858462C>T	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	GBM(43;676 868 1633 6395 37496)			GBM(43;676 868 1633 6395 37496)			8.829417	KEEP	4	5	-1	30	45	4	5	-1	20.190737	30	45	0.115385	1	0	0	0	0	0	0	1	0	--	--		0	T			CAND2_uc003bxj.2_Silent_p.D584D	95	GBM-06-5412-TP	p.D677D	C	CAGCCCTGGACGCCCTGGCCC	NM_001162499	NP_001155971	12858462	O75155	CAND2_HUMAN	0			10	2080	+	T	T			Silent	677			HEAT 14.			
CAND2	0	broad.mit.edu	GRCh37	3	12858462	12858462	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-2623-01	TCGA-19-2623-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000456430.2:c.2031C>T	p.Asp677=	p.D677=	ENST00000456430	NM_001162499.1	677	gaC/gaT	0	T:0.0005		1			T	D	uc003bxk.2	protein_coding	YES	CCDS54554.1			2031/3711									skin(3)|pancreas(1)	4	c.(2029-2031)GAC>GAT			Low_complexity_(Seg):seg,hmmpanther:PTHR12696,hmmpanther:PTHR12696:SF2,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	TBP-interacting protein isoform 1			T:0	ENSP00000387641		15-Oct	6.62E-05	0.000643	8.71E-05			1.55E-05			rs377443431,COSM237113,COSM3408208	15-Oct	common_variant		ENST00000456430	Transcript			positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	ENSG00000144712	g.chr3:12858462C>T	30689			LOW								--	--	1																																		CAND2_uc003bxj.2_Silent_p.D584D	0,1,1	1			p.D677D	NM_001162499	NP_001155971			0,1,1	CAND2_HUMAN	CAND2	HGNC	O75155	CAND2_HUMAN					10	2080	+			UPI00005795FA	677			HEAT 14.		SNV	CAND2,synonymous_variant,p.=,ENST00000456430,NM_001162499.1;CAND2,synonymous_variant,p.=,ENST00000295989,NM_012298.2;CAND2,downstream_gene_variant,,ENST00000446928,;	uc003bxk.2	c.2031C>T	2072/4573	1	1			c.2031C>T						3	SNP	c.(2029-2031)GAC>GAT	13	13			skin(3)|pancreas(1)	4	Broad	TBP-interacting protein isoform 1			12858462		0.662	ENSG00000144712	2567	g.chr3:12858462C>T	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	GBM(43;676 868 1633 6395 37496)			GBM(43;676 868 1633 6395 37496)			64.387882	KEEP	7	15	-1	15	13	7	15	-1	64.460714	15	13	0.456522	1	0	0	0	0	0	0	1	0	--	--		0	T			CAND2_uc003bxj.2_Silent_p.D584D	163	GBM-19-2623-TP	p.D677D	C	CAGCCCTGGACGCCCTGGCCC	NM_001162499	NP_001155971	12858462	O75155	CAND2_HUMAN	0			10	2080	+	T	T			Silent	677			HEAT 14.			
CAND2	0	broad.mit.edu	GRCh37	3	12856870	12856870	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-19-2625-01	TCGA-19-2625-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000456430.2:c.1237T>A	p.Trp413Arg	p.W413R	ENST00000456430	NM_001162499.1	413	Tgg/Agg	0			1			A	W/R	uc003bxk.2	protein_coding	YES	CCDS54554.1			1237/3711									skin(3)|pancreas(1)	4	c.(1237-1239)TGG>AGG			hmmpanther:PTHR12696,hmmpanther:PTHR12696:SF2,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	TBP-interacting protein isoform 1				ENSP00000387641		15-Aug									COSM3408207,COSM3408206	15-Aug	.		ENST00000456430	Transcript			positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	ENSG00000144712	g.chr3:12856870T>A	30689			MODERATE		0.57	neutral	getma.org/?cm=msa&ty=f&p=CAND2_HUMAN&rb=401&re=600&var=W413R	getma.org/pdb.php?prot=CAND2_HUMAN&from=401&to=600&var=W413R	getma.org/?cm=var&var=hg19,3,12856870,T,A&fts=all	W413R	--	--	1																																		CAND2_uc003bxj.2_Missense_Mutation_p.W320R	1,1	1		probably_damaging(0.999)	p.W413R	NM_001162499	NP_001155971		tolerated(0.54)	1,1	CAND2_HUMAN	CAND2	HGNC	O75155	CAND2_HUMAN					8	1286	+			UPI00005795FA	413					SNV	CAND2,missense_variant,p.Trp413Arg,ENST00000456430,NM_001162499.1;CAND2,missense_variant,p.Trp320Arg,ENST00000295989,NM_012298.2;CAND2,downstream_gene_variant,,ENST00000446928,;	uc003bxk.2	c.1237T>A	1278/4573	2	2			c.1237T>A						3	SNP	c.(1237-1239)TGG>AGG	46	46			skin(3)|pancreas(1)	4	Broad	TBP-interacting protein isoform 1			12856870		0.607	ENSG00000144712	2567	g.chr3:12856870T>A	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	GBM(43;676 868 1633 6395 37496)			GBM(43;676 868 1633 6395 37496)			59.412325	KEEP	9	12	-1	16	26	9	12	-1	60.570452	16	26	0.345455	1	0	0	0	0	1	0	0	0	--	--		0	A			CAND2_uc003bxj.2_Missense_Mutation_p.W320R	165	GBM-19-2625-TP	p.W413R	T	CCCGAAGGGATGGCTGGAGGC	NM_001162499	NP_001155971	12856870	O75155	CAND2_HUMAN	0			8	1286	+	A	A			Missense_Mutation	413						
CANX	821	broad.mit.edu	GRCh37	5	179132740	179132740	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0648-01	TCGA-06-0648-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000247461.4:c.58G>A	p.Ala20Thr	p.A20T	ENST00000247461	NM_001746.3	20	Gct/Act	0			1			A	A/T	uc003mkk.2	protein_coding	YES	CCDS4447.1			58/1779										0	c.(58-60)GCT>ACT			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11073,hmmpanther:PTHR11073:SF11	calnexin precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)			ENSP00000247461		15-Feb	8.24E-06	9.61E-05							rs753869333,COSM2151341,COSM3410182	15-Feb	.		ENST00000247461	Transcript			post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding	ENSG00000127022	g.chr5:179132740G>A	1473			MODERATE		0.97	low	getma.org/?cm=msa&ty=f&p=CALX_HUMAN&rb=1&re=68&var=A20T	NA	getma.org/?cm=var&var=hg19,5,179132740,G,A&fts=all	A20T	--	--	1																																		CANX_uc011dgp.1_Missense_Mutation_p.A55T|CANX_uc010jlb.1_Missense_Mutation_p.A20T|CANX_uc003mkl.2_Missense_Mutation_p.A20T|CANX_uc011dgq.1_5'UTR	0,1,1	1		benign(0.004)	p.A20T	NM_001746	NP_001737		tolerated(0.43)	0,1,1	CALX_HUMAN	CANX	HGNC	P27824	CALX_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		D6RHJ3_HUMAN,D6RFW4_HUMAN,D6RFL1_HUMAN,D6RDP7_HUMAN,D6RB85_HUMAN,D6RAU8_HUMAN,D6RAQ8_HUMAN,B4E2T8_HUMAN		2	235	+	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	UPI000000D9F9	20					SNV	CANX,missense_variant,p.Ala20Thr,ENST00000247461,NM_001746.3;CANX,missense_variant,p.Ala20Thr,ENST00000452673,NM_001024649.1;CANX,missense_variant,p.Ala20Thr,ENST00000504734,;CANX,missense_variant,p.Ala55Thr,ENST00000415618,;CANX,missense_variant,p.Ala20Thr,ENST00000502673,;CANX,missense_variant,p.Ala20Thr,ENST00000502296,;CANX,missense_variant,p.Ala20Thr,ENST00000513246,;CANX,missense_variant,p.Ala20Thr,ENST00000514383,;CANX,missense_variant,p.Ala20Thr,ENST00000507307,;CANX,missense_variant,p.Ala20Thr,ENST00000502498,;CANX,missense_variant,p.Ala20Thr,ENST00000509563,;CANX,5_prime_UTR_variant,,ENST00000512607,;CANX,intron_variant,,ENST00000506654,;CANX,intron_variant,,ENST00000510810,;CANX,upstream_gene_variant,,ENST00000508787,;CANX,upstream_gene_variant,,ENST00000503126,;CANX,missense_variant,p.Ala20Thr,ENST00000514032,;CANX,missense_variant,p.Ala20Thr,ENST00000504579,;CANX,upstream_gene_variant,,ENST00000506298,;	uc003mkk.2	c.58G>A	258/4260	1	1			c.58G>A						5	SNP	c.(58-60)GCT>ACT	54	54				0	Broad	calnexin precursor		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	179132740		0.104	ENSG00000127022	2569	g.chr5:179132740G>A	post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding							610.862165	KEEP	142	92	-1	182	156	142	92	-1	613.682914	182	156	0.418219	1	0	0	0	0	1	0	0	0	--	--		0	A			CANX_uc011dgp.1_Missense_Mutation_p.A55T|CANX_uc010jlb.1_Missense_Mutation_p.A20T|CANX_uc003mkl.2_Missense_Mutation_p.A20T|CANX_uc011dgq.1_5'UTR	61	GBM-06-0648-TP	p.A20T	G	tattgttgaggctcatgatgg	NM_001746	NP_001737	179132740	P27824	CALX_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	235	+	A	A	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Missense_Mutation	20						
CAP2	0	broad.mit.edu	GRCh37	6	17543298	17543298	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-6173-01	TCGA-26-6173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000229922.2:c.1133G>A	p.Cys378Tyr	p.C378Y	ENST00000229922	NM_006366.2	378	tGt/tAt	0			1			A	C/Y	uc003ncb.2	protein_coding	YES	CCDS4539.1			1133/1434									ovary(1)	1	c.(1132-1134)TGT>TAT			PROSITE_profiles:PS51329,hmmpanther:PTHR10652,hmmpanther:PTHR10652:SF2,Gene3D:2.160.20.70,Pfam_domain:PF08603,SMART_domains:SM00673,Superfamily_domains:SSF69340	adenylyl cyclase-associated protein 2				ENSP00000229922		13-Nov									COSM3410802	13-Nov	.		ENST00000229922	Transcript			activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	ENSG00000112186	g.chr6:17543298G>A	20039			MODERATE		3.2	medium	getma.org/?cm=msa&ty=f&p=CAP2_HUMAN&rb=320&re=476&var=C378Y	getma.org/pdb.php?prot=CAP2_HUMAN&from=320&to=476&var=C378Y	getma.org/?cm=var&var=hg19,6,17543298,G,A&fts=all	C378Y	--	--	1																																		CAP2_uc010jpk.1_RNA|CAP2_uc011dja.1_Missense_Mutation_p.C352Y|CAP2_uc011djb.1_Missense_Mutation_p.C314Y|CAP2_uc011djc.1_Missense_Mutation_p.C266Y|CAP2_uc011djd.1_Missense_Mutation_p.C118Y	1	1		probably_damaging(1)	p.C378Y	NM_006366	NP_006357		deleterious(0)	1	CAP2_HUMAN	CAP2	HGNC	P40123	CAP2_HUMAN	all cancers(50;0.194)|Epithelial(50;0.227)				11	1376	+	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	UPI0000126EC6	378			C-CAP/cofactor C-like.		SNV	CAP2,missense_variant,p.Cys378Tyr,ENST00000229922,NM_006366.2;CAP2,missense_variant,p.Cys352Tyr,ENST00000378990,;CAP2,missense_variant,p.Cys266Tyr,ENST00000489374,;CAP2,missense_variant,p.Cys314Tyr,ENST00000465994,;CAP2,missense_variant,p.Cys118Tyr,ENST00000493172,;CAP2,3_prime_UTR_variant,,ENST00000479291,;CAP2,downstream_gene_variant,,ENST00000476263,;	uc003ncb.2	c.1133G>A	1665/3316	2	2			c.1133G>A						6	SNP	c.(1132-1134)TGT>TAT	48	48			ovary(1)	1	Broad	adenylyl cyclase-associated protein 2			17543298		0.403	ENSG00000112186	2571	g.chr6:17543298G>A	activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding							141.692105	KEEP	25	40	-1	73	90	25	40	-1	149.432346	73	90	0.291457	1	0	0	0	0	1	0	0	0	--	--		0	A			CAP2_uc010jpk.1_RNA|CAP2_uc011dja.1_Missense_Mutation_p.C352Y|CAP2_uc011djb.1_Missense_Mutation_p.C314Y|CAP2_uc011djc.1_Missense_Mutation_p.C266Y|CAP2_uc011djd.1_Missense_Mutation_p.C118Y	187	GBM-26-6173-TP	p.C378Y	G	ACAGACAACTGTAAAAAACTC	NM_006366	NP_006357	17543298	P40123	CAP2_HUMAN	0	all cancers(50;0.194)|Epithelial(50;0.227)		11	1376	+	A	A	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	Missense_Mutation	378			C-CAP/cofactor C-like.			
CAPN1	823	broad.mit.edu	GRCh37	11	64953733	64953733	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01	TCGA-02-2470-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000527323.1:c.683G>A	p.Arg228His	p.R228H	ENST00000527323		228	cGc/cAc	0			1			A	R/H	uc009yqd.1	protein_coding		CCDS44644.1			683/2145									ovary(1)	1	c.(682-684)CGC>CAC			PROSITE_profiles:PS50203,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF284,Pfam_domain:PF00648,Gene3D:3.90.70.10,SMART_domains:SM00230,Superfamily_domains:SSF54001	calpain 1, large subunit				ENSP00000279247		22-Jun	1.65E-05					1.56E-05		6.34E-05	rs748491783,COSM295128	22-Jun	.		ENST00000279247	Transcript			positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding	ENSG00000014216	g.chr11:64953733G>A	1476			MODERATE		2.005	medium	getma.org/?cm=msa&ty=f&p=CAN1_HUMAN&rb=55&re=354&var=R228H	getma.org/pdb.php?prot=CAN1_HUMAN&from=55&to=354&var=R228H	getma.org/?cm=var&var=hg19,11,64953733,G,A&fts=all	R228H	--	--	1																																		CAPN1_uc001odf.1_Missense_Mutation_p.R228H|CAPN1_uc001odg.1_Missense_Mutation_p.R228H|CAPN1_uc010roa.1_5'UTR	0,1			benign(0.005)	p.R228H	NM_005186	NP_005177		deleterious(0.03)	0,1	CAN1_HUMAN	CAPN1	HGNC	P07384	CAN1_HUMAN		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)	E9PSA6_HUMAN,E9PQB3_HUMAN,E9PMC6_HUMAN,E9PLX0_HUMAN,E9PLC9_HUMAN,E9PJJ3_HUMAN,E9PJA6_HUMAN,E9PIA9_HUMAN		6	794	+		Lung NSC(402;0.094)|Melanoma(852;0.16)	UPI0000000E05	228			Calpain catalytic.		SNV	CAPN1,missense_variant,p.Arg228His,ENST00000527323,;CAPN1,missense_variant,p.Arg228His,ENST00000533820,NM_001198868.1;CAPN1,missense_variant,p.Arg228His,ENST00000279247,NM_005186.3;CAPN1,missense_variant,p.Arg228His,ENST00000524773,NM_001198869.1;CAPN1,missense_variant,p.Arg228His,ENST00000533129,;CAPN1,missense_variant,p.Arg123His,ENST00000526468,;AP003068.23,upstream_gene_variant,,ENST00000526623,;CAPN1,downstream_gene_variant,,ENST00000529133,;CAPN1,downstream_gene_variant,,ENST00000527739,;CAPN1,downstream_gene_variant,,ENST00000534373,;CAPN1,downstream_gene_variant,,ENST00000533909,;CAPN1,downstream_gene_variant,,ENST00000528396,;CAPN1,downstream_gene_variant,,ENST00000532285,;CAPN1,downstream_gene_variant,,ENST00000527699,;CAPN1,downstream_gene_variant,,ENST00000526966,;CAPN1,downstream_gene_variant,,ENST00000531068,;CAPN1,downstream_gene_variant,,ENST00000527469,;CAPN1,downstream_gene_variant,,ENST00000527189,;CAPN1,downstream_gene_variant,,ENST00000528739,;CAPN1,non_coding_transcript_exon_variant,,ENST00000527897,;CAPN1,intron_variant,,ENST00000526954,;CAPN1,upstream_gene_variant,,ENST00000533079,;CAPN1,downstream_gene_variant,,ENST00000530442,;CAPN1,upstream_gene_variant,,ENST00000527887,;	uc009yqd.1	c.683G>A	826/3007	2	2			c.683G>A						11	SNP	c.(682-684)CGC>CAC	32	32			ovary(1)	1	Broad	calpain 1, large subunit			64953733		0.637	ENSG00000014216	2573	g.chr11:64953733G>A	positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding							14.139166	KEEP	1	5	-1	7	11	1	5	-1	15.164424	7	11	0.272727	1	0	0	0	0	1	0	0	0	--	--		0	A			CAPN1_uc001odf.1_Missense_Mutation_p.R228H|CAPN1_uc001odg.1_Missense_Mutation_p.R228H|CAPN1_uc010roa.1_5'UTR	5	GBM-02-2470-TP	p.R228H	G	TACGAGTTGCGCAAGGCTCCC	NM_005186	NP_005177	64953733	P07384	CAN1_HUMAN	0		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)	6	794	+	A	A		Lung NSC(402;0.094)|Melanoma(852;0.16)	Missense_Mutation	228			Calpain catalytic.			
CAPN1	0	broad.mit.edu	GRCh37	11	64950650	64950650	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-2554-01	TCGA-14-2554-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000279247.6:c.319A>G	p.Ile107Val	p.I107V	ENST00000279247	NM_005186.3	107	Atc/Gtc	0			1			G	I/V	uc009yqd.1	protein_coding		CCDS44644.1			319/2145									ovary(1)	1	c.(319-321)ATC>GTC			PROSITE_profiles:PS50203,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF284,Pfam_domain:PF00648,SMART_domains:SM00230,Superfamily_domains:SSF54001,Prints_domain:PR00704	calpain 1, large subunit				ENSP00000279247		22-Mar									COSM3398040	22-Mar	.		ENST00000279247	Transcript			positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding	ENSG00000014216	g.chr11:64950650A>G	1476			MODERATE		1.2	low	getma.org/?cm=msa&ty=f&p=CAN1_HUMAN&rb=55&re=354&var=I107V	getma.org/pdb.php?prot=CAN1_HUMAN&from=55&to=354&var=I107V	getma.org/?cm=var&var=hg19,11,64950650,A,G&fts=all	I107V	--	--	1																																		uc001ode.2_5'Flank|CAPN1_uc001odf.1_Missense_Mutation_p.I107V|CAPN1_uc001odg.1_Missense_Mutation_p.I107V|CAPN1_uc010roa.1_Intron	1			benign(0.056)	p.I107V	NM_005186	NP_005177		tolerated(0.11)	1	CAN1_HUMAN	CAPN1	HGNC	P07384	CAN1_HUMAN		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)	E9PSA6_HUMAN,E9PQB3_HUMAN,E9PMC6_HUMAN,E9PLX0_HUMAN,E9PLC9_HUMAN,E9PJJ3_HUMAN,E9PJA6_HUMAN,E9PIA9_HUMAN		3	430	+		Lung NSC(402;0.094)|Melanoma(852;0.16)	UPI0000000E05	107			Calpain catalytic.		SNV	CAPN1,missense_variant,p.Ile107Val,ENST00000527323,;CAPN1,missense_variant,p.Ile107Val,ENST00000533820,NM_001198868.1;CAPN1,missense_variant,p.Ile107Val,ENST00000279247,NM_005186.3;CAPN1,missense_variant,p.Ile107Val,ENST00000524773,NM_001198869.1;CAPN1,missense_variant,p.Ile107Val,ENST00000533129,;CAPN1,missense_variant,p.Ile107Val,ENST00000529133,;CAPN1,missense_variant,p.Ile107Val,ENST00000527739,;CAPN1,missense_variant,p.Ile107Val,ENST00000534373,;CAPN1,missense_variant,p.Ile107Val,ENST00000533909,;CAPN1,missense_variant,p.Ile107Val,ENST00000528396,;CAPN1,missense_variant,p.Ile107Val,ENST00000527699,;CAPN1,missense_variant,p.Ile107Val,ENST00000526966,;CAPN1,missense_variant,p.Ile107Val,ENST00000531068,;AP003068.23,upstream_gene_variant,,ENST00000526623,;CAPN1,upstream_gene_variant,,ENST00000526468,;CAPN1,downstream_gene_variant,,ENST00000532285,;CAPN1,non_coding_transcript_exon_variant,,ENST00000527469,;CAPN1,non_coding_transcript_exon_variant,,ENST00000528739,;CAPN1,intron_variant,,ENST00000527189,;CAPN1,missense_variant,p.Ile107Val,ENST00000526954,;CAPN1,non_coding_transcript_exon_variant,,ENST00000530442,;CAPN1,upstream_gene_variant,,ENST00000527897,;CAPN1,upstream_gene_variant,,ENST00000533079,;AP003068.23,upstream_gene_variant,,ENST00000528551,;	uc009yqd.1	c.319A>G	462/3007	4	4			c.319A>G						11	SNP	c.(319-321)ATC>GTC	29	29			ovary(1)	1	Broad	calpain 1, large subunit			64950650		0.602	ENSG00000014216	2573	g.chr11:64950650A>G	positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding							232.795112	KEEP	43	63	-1	94	136	43	63	-1	242.280456	94	136	0.304659	1	0	0	0	0	1	0	0	0	--	--		0	G			uc001ode.2_5'Flank|CAPN1_uc001odf.1_Missense_Mutation_p.I107V|CAPN1_uc001odg.1_Missense_Mutation_p.I107V|CAPN1_uc010roa.1_Intron	150	GBM-14-2554-TP	p.I107V	A	CCGCACAGACATCTGCCAGGG	NM_005186	NP_005177	64950650	P07384	CAN1_HUMAN	0		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)	3	430	+	G	G		Lung NSC(402;0.094)|Melanoma(852;0.16)	Missense_Mutation	107			Calpain catalytic.			
CAPN11	0	broad.mit.edu	GRCh37	6	44140965	44140965	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-19-2629-01	TCGA-19-2629-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398776.1:c.673T>A	p.Ser225Thr	p.S225T	ENST00000398776	NM_007058.3	225	Tcc/Acc	0			1			A	S/T	uc003owt.1	protein_coding	YES	CCDS47436.1			673/2220									ovary(1)|breast(1)	2	c.(673-675)TCC>ACC			Pfam_domain:PF00648,Prints_domain:PR00704,PROSITE_profiles:PS50203,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF269,SMART_domains:SM00230,Superfamily_domains:SSF54001	calpain 11				ENSP00000381758		23-Jul									COSM3411135	23-Jul	.		ENST00000398776	Transcript			proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	ENSG00000137225	g.chr6:44140965T>A	1478			MODERATE		3.685	high	getma.org/?cm=msa&ty=f&p=CAN11_HUMAN&rb=79&re=378&var=S225T	getma.org/pdb.php?prot=CAN11_HUMAN&from=79&to=378&var=S225T	getma.org/?cm=var&var=hg19,6,44140965,T,A&fts=all	S225T	--	--	1																																OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1	1		probably_damaging(0.985)	p.S225T	NM_007058	NP_008989		deleterious(0.03)	1	CAN11_HUMAN	CAPN11	HGNC	Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)				7	711	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		UPI00000383D5	225			Calpain catalytic.		SNV	CAPN11,missense_variant,p.Ser225Thr,ENST00000398776,NM_007058.3;CAPN11,missense_variant,p.Ser225Thr,ENST00000542245,;CAPN11,downstream_gene_variant,,ENST00000532171,;CAPN11,upstream_gene_variant,,ENST00000524554,;CAPN11,upstream_gene_variant,,ENST00000533604,;CAPN11,downstream_gene_variant,,ENST00000526118,;	uc003owt.1	c.673T>A	711/2728	2	2			c.673T>A						6	SNP	c.(673-675)TCC>ACC	43	43			ovary(1)|breast(1)	2	Broad	calpain 11			44140965		0.617	ENSG00000137225	2575	g.chr6:44140965T>A	proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity							-31.21965	KEEP	3	2	-1	84	87	3	2	-1	7.637711	84	87	0.025641	1	0	0	0	0	1	0	0	0	--	--		0	A	OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		166	GBM-19-2629-TP	p.S225T	T	GCTGAGTGGGTCCTATGAAGC	NM_007058	NP_008989	44140965	Q9UMQ6	CAN11_HUMAN	0	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		7	711	+	A	A	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Missense_Mutation	225			Calpain catalytic.			
CAPN11	0	broad.mit.edu	GRCh37	6	44147870	44147870	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1991-01	TCGA-32-1991-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398776.1:c.1610G>A	p.Arg537Gln	p.R537Q	ENST00000398776	NM_007058.3	537	cGg/cAg	0			1			A	R/Q	uc003owt.1	protein_coding	YES	CCDS47436.1			1610/2220									ovary(1)|breast(1)	2	c.(1609-1611)CGG>CAG			Gene3D:2.60.120.380,Pfam_domain:PF01067,Prints_domain:PR00704,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF269,SMART_domains:SM00720,Superfamily_domains:SSF49758	calpain 11				ENSP00000381758		14/23	5.78E-05			0.000125		7.88E-05		6.22E-05	rs761181960,COSM3411136	14/23	.		ENST00000398776	Transcript			proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	ENSG00000137225	g.chr6:44147870G>A	1478			MODERATE		3.71	high	getma.org/?cm=msa&ty=f&p=CAN11_HUMAN&rb=389&re=547&var=R537Q	getma.org/pdb.php?prot=CAN11_HUMAN&from=389&to=547&var=R537Q	getma.org/?cm=var&var=hg19,6,44147870,G,A&fts=all	R537Q	--	--	1																																		CAPN11_uc011dvn.1_Missense_Mutation_p.R191Q	0,1	1		probably_damaging(1)	p.R537Q	NM_007058	NP_008989		deleterious(0)	0,1	CAN11_HUMAN	CAPN11	HGNC	Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)				14	1648	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		UPI00000383D5	537			Domain III.		SNV	CAPN11,missense_variant,p.Arg537Gln,ENST00000398776,NM_007058.3;CAPN11,missense_variant,p.Arg537Gln,ENST00000542245,;CAPN11,non_coding_transcript_exon_variant,,ENST00000524554,;CAPN11,non_coding_transcript_exon_variant,,ENST00000533604,;	uc003owt.1	c.1610G>A	1648/2728	1	1			c.1610G>A						6	SNP	c.(1609-1611)CGG>CAG	54	54			ovary(1)|breast(1)	2	Broad	calpain 11			44147870		0.577	ENSG00000137225	2575	g.chr6:44147870G>A	proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity							-10.646228	KEEP	4	1	-1	37	42	4	1	-1	7.311435	37	42	0.038462	1	0	0	0	0	1	0	0	0	--	--		0	A			CAPN11_uc011dvn.1_Missense_Mutation_p.R191Q	234	GBM-32-1991-TP	p.R537Q	G	TTCCTGCTTCGGGTCTTCACC	NM_007058	NP_008989	44147870	Q9UMQ6	CAN11_HUMAN	0	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		14	1648	+	A	A	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Missense_Mutation	537			Domain III.			
CAPN13	92291	broad.mit.edu	GRCh37	2	30966369	30966369	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01	TCGA-06-0155-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295055.8:c.1325G>A	p.Arg442His	p.R442H	ENST00000295055	NM_144575.2	442	cGc/cAc	0			1			T	R/H	uc002rnn.2	protein_coding	YES	CCDS46252.1			1325/2010									large_intestine(1)|ovary(1)	2	c.(1324-1326)CGC>CAC			hmmpanther:PTHR10183:SF37,hmmpanther:PTHR10183,Gene3D:2.60.120.380,Pfam_domain:PF01067,Superfamily_domains:SSF49758	calpain 13				ENSP00000295055		13/23	4.97E-05					7.49E-05	0.00111		rs771712940,COSM3372758	13/23	.		ENST00000295055	Transcript			proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	ENSG00000162949	g.chr2:30966369C>T	16663			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=CAN13_HUMAN&rb=346&re=482&var=R442H	NA	getma.org/?cm=var&var=hg19,2,30966369,C,T&fts=all	R442H	--	--	1																																		CAPN13_uc002rnm.2_RNA|CAPN13_uc002rno.2_5'UTR	0,1	1		possibly_damaging(0.738)	p.R442H	NM_144575	NP_653176		tolerated(0.13)	0,1	CAN13_HUMAN	CAPN13	HGNC	Q6MZZ7	CAN13_HUMAN					12	1501	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		UPI00000463E5	442					SNV	CAPN13,missense_variant,p.Arg442His,ENST00000295055,NM_144575.2;CAPN13,missense_variant,p.Arg442His,ENST00000534090,;CAPN13,missense_variant,p.Arg6His,ENST00000450650,;CAPN13,3_prime_UTR_variant,,ENST00000458085,;CAPN13,non_coding_transcript_exon_variant,,ENST00000465450,;AC092569.2,downstream_gene_variant,,ENST00000455192,;	uc002rnn.2	c.1325G>A	1502/2683	2	2			c.1325G>A						2	SNP	c.(1324-1326)CGC>CAC	34	34			large_intestine(1)|ovary(1)	2	Broad	calpain 13			30966369		0.463	ENSG00000162949	2577	g.chr2:30966369C>T	proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity							373.180894	KEEP	60	68	-1	94	103	60	68	-1	375.742874	94	103	0.401929	1	0	0	0	0	1	0	0	0	--	--		0	T			CAPN13_uc002rnm.2_RNA|CAPN13_uc002rno.2_5'UTR	27	GBM-06-0155-TP	p.R442H	C	GAAGTTGCGGCGGAATTTATT	NM_144575	NP_653176	30966369	Q6MZZ7	CAN13_HUMAN	0			12	1501	-	T	T	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		Missense_Mutation	442						
CAPN13	0	broad.mit.edu	GRCh37	2	30959413	30959413	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-27-1835-01	TCGA-27-1835-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295055.8:c.1678C>A	p.Gln560Lys	p.Q560K	ENST00000295055	NM_144575.2	560	Caa/Aaa	0			1			T	Q/K	uc002rnn.2	protein_coding	YES	CCDS46252.1			1678/2010									large_intestine(1)|ovary(1)	2	c.(1678-1680)CAA>AAA			hmmpanther:PTHR10183:SF37,hmmpanther:PTHR10183,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	calpain 13				ENSP00000295055		18/23									COSM3407814	18/23	.		ENST00000295055	Transcript			proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	ENSG00000162949	g.chr2:30959413G>T	16663			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=CAN13_HUMAN&rb=538&re=573&var=Q560K	getma.org/pdb.php?prot=CAN13_HUMAN&from=538&to=573&var=Q560K	getma.org/?cm=var&var=hg19,2,30959413,G,T&fts=all	Q560K	--	--	1																																		CAPN13_uc002rnm.2_RNA	1	1		benign(0.013)	p.Q560K	NM_144575	NP_653176		tolerated(1)	1	CAN13_HUMAN	CAPN13	HGNC	Q6MZZ7	CAN13_HUMAN					17	1854	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		UPI00000463E5	560			EF-hand 1.		SNV	CAPN13,missense_variant,p.Gln560Lys,ENST00000295055,NM_144575.2;CAPN13,missense_variant,p.Gln560Lys,ENST00000534090,;CAPN13,upstream_gene_variant,,ENST00000490786,;CAPN13,3_prime_UTR_variant,,ENST00000450650,;CAPN13,downstream_gene_variant,,ENST00000458085,;	uc002rnn.2	c.1678C>A	1855/2683	1	1			c.1678C>A						2	SNP	c.(1678-1680)CAA>AAA	16	16			large_intestine(1)|ovary(1)	2	Broad	calpain 13			30959413		0.493	ENSG00000162949	2577	g.chr2:30959413G>T	proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity							86.25338	KEEP	19	17	0.527777778	18	25	19	17	0.527777778	86.575893	18	25	0.426471	1	0	0	0	0	1	0	0	0	--	--		0	T			CAPN13_uc002rnm.2_RNA	194	GBM-27-1835-TP	p.Q560K	G	AACTCCTCTTGGTCTAGCCGC	NM_144575	NP_653176	30959413	Q6MZZ7	CAN13_HUMAN	0			17	1854	-	T	T	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		Missense_Mutation	560			EF-hand 1.			
CAPN13	0	broad.mit.edu	GRCh37	2	30986009	30986009	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295055.8:c.713C>G	p.Ala238Gly	p.A238G	ENST00000295055	NM_144575.2	238	gCa/gGa	0			1			C	A/G	uc002rnn.2	protein_coding	YES	CCDS46252.1			713/2010									large_intestine(1)|ovary(1)	2	c.(712-714)GCA>GGA			PROSITE_profiles:PS50203,hmmpanther:PTHR10183:SF37,hmmpanther:PTHR10183,Gene3D:3.90.70.10,Pfam_domain:PF00648,SMART_domains:SM00230,Superfamily_domains:SSF54001	calpain 13				ENSP00000295055		23-Jul									COSM3407815	23-Jul	.		ENST00000295055	Transcript			proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	ENSG00000162949	g.chr2:30986009G>C	16663			MODERATE		1.555	low	getma.org/?cm=msa&ty=f&p=CAN13_HUMAN&rb=34&re=332&var=A238G	getma.org/pdb.php?prot=CAN13_HUMAN&from=34&to=332&var=A238G	getma.org/?cm=var&var=hg19,2,30986009,G,C&fts=all	A238G	--	--	1																																		CAPN13_uc002rnp.1_Missense_Mutation_p.A238G	1	1		benign(0.403)	p.A238G	NM_144575	NP_653176		tolerated(0.37)	1	CAN13_HUMAN	CAPN13	HGNC	Q6MZZ7	CAN13_HUMAN					7	889	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		UPI00000463E5	238			Calpain catalytic.		SNV	CAPN13,missense_variant,p.Ala238Gly,ENST00000295055,NM_144575.2;CAPN13,missense_variant,p.Ala238Gly,ENST00000534090,;CAPN13,non_coding_transcript_exon_variant,,ENST00000465960,;CAPN13,missense_variant,p.Ala238Gly,ENST00000458085,;CAPN13,downstream_gene_variant,,ENST00000485248,;	uc002rnn.2	c.713C>G	890/2683	4	4			c.713C>G						2	SNP	c.(712-714)GCA>GGA	41	41			large_intestine(1)|ovary(1)	2	Broad	calpain 13			30986009		0.522	ENSG00000162949	2577	g.chr2:30986009G>C	proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity							0.4232	KEEP	2	0	-1	16	22	2	0	-1	6.533977	16	22	0.064516	1	0	0	0	0	1	0	0	0	--	--		0	C			CAPN13_uc002rnp.1_Missense_Mutation_p.A238G	235	GBM-32-2491-TP	p.A238G	G	CATCGCCTGTGCTGTATCTGT	NM_144575	NP_653176	30986009	Q6MZZ7	CAN13_HUMAN	0			7	889	-	C	C	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		Missense_Mutation	238			Calpain catalytic.			
CAPN15	6650	broad.mit.edu	GRCh37	16	603459	603459	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2559-01	TCGA-06-2559-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000219611.2:c.3204C>T	p.Thr1068=	p.T1068=	ENST00000219611	NM_005632.2	1068	acC/acT	0			1			T	T	uc002chi.2	protein_coding	YES	CCDS10410.1			3204/3261									ovary(1)|breast(1)	2	c.(3202-3204)ACC>ACT				small optic lobes				ENSP00000219611		14/14									COSM164524	14/14	.		ENST00000219611	Transcript			proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000103326	g.chr16:603459C>T	11182			LOW								--	--	1																																		SOLH_uc002chj.2_Silent_p.T128T	1	1			p.T1068T	NM_005632	NP_005623			1	CAN15_HUMAN	CAPN15	HGNC	O75808	CAN15_HUMAN			H3BR03_HUMAN		14	3567	+		Hepatocellular(780;0.00335)	UPI0000071B68	1068					SNV	CAPN15,synonymous_variant,p.=,ENST00000219611,NM_005632.2;CAPN15,intron_variant,,ENST00000566977,;LA16c-366D1.3,intron_variant,,ENST00000565879,;CAPN15,non_coding_transcript_exon_variant,,ENST00000565010,;	uc002chi.2	c.3204C>T	3567/4744	2	2			c.3204C>T						16	SNP	c.(3202-3204)ACC>ACT	25	25			ovary(1)|breast(1)	2	Broad	small optic lobes			603459		0.687	ENSG00000103326	14696	g.chr16:603459C>T	proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding							122.797816	KEEP	20	32	-1	17	32	20	32	-1	122.797816	17	32	0.5	1	0	0	0	0	0	0	1	0	--	--		0	T			SOLH_uc002chj.2_Silent_p.T128T	83	GBM-06-2559-TP	p.T1068T	C	CCAAGGGGACCCACAGCCCCC	NM_005632	NP_005623	603459	O75808	CAN15_HUMAN	0			14	3567	+	T	T		Hepatocellular(780;0.00335)	Silent	1068						
CAPN15	0	broad.mit.edu	GRCh37	16	601614	601614	+	synonymous_variant	Silent	SNP	G	G	A	rs143897279	byFrequency	TCGA-41-3393-01	TCGA-41-3393-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000219611.2:c.2295G>A	p.Pro765=	p.P765=	ENST00000219611	NM_005632.2	765	ccG/ccA	0	A:0.0248	A:0.0166	1	A:0.0043		A	P	uc002chi.2	protein_coding	YES	CCDS10410.1			2295/3261									ovary(1)|breast(1)	2	c.(2293-2295)CCG>CCA			PROSITE_profiles:PS50203,hmmpanther:PTHR10183:SF279,hmmpanther:PTHR10183,Gene3D:3.90.70.10,Pfam_domain:PF00648,SMART_domains:SM00230,Superfamily_domains:SSF54001	small optic lobes		A:0	A:0.0002	ENSP00000219611	A:0	14-Sep	0.00256	0.0246	0.0014			3.08E-05		0.00231	rs143897279,COSM3402400	14-Sep	common_variant		ENST00000219611	Transcript		A:0.0054	proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000103326	g.chr16:601614G>A	11182			LOW								--	--	1																																		SOLH_uc002chj.2_5'Flank	0,1	1			p.P765P	NM_005632	NP_005623	A:0.002		0,1	CAN15_HUMAN	CAPN15	HGNC	O75808	CAN15_HUMAN			H3BR03_HUMAN		9	2658	+		Hepatocellular(780;0.00335)	UPI0000071B68	765			Calpain catalytic.		SNV	CAPN15,synonymous_variant,p.=,ENST00000219611,NM_005632.2;CAPN15,downstream_gene_variant,,ENST00000562370,;CAPN15,downstream_gene_variant,,ENST00000568988,;CAPN15,upstream_gene_variant,,ENST00000566977,;LA16c-366D1.3,intron_variant,,ENST00000565879,;CAPN15,upstream_gene_variant,,ENST00000565010,;	uc002chi.2	c.2295G>A	2658/4744	2	2			c.2295G>A						16	SNP	c.(2293-2295)CCG>CCA	24	24			ovary(1)|breast(1)	2	Broad	small optic lobes			601614		0.687	ENSG00000103326	14696	g.chr16:601614G>A	proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding							78.083523	KEEP	18	14	-1	48	41	18	14	-1	81.442691	48	41	0.306931	1	0	0	0	0	0	0	1	0	--	--		0	A			SOLH_uc002chj.2_5'Flank	255	GBM-41-3393-TP	p.P765P	G	AGCTCATGCCGCACGGCAGCA	NM_005632	NP_005623	601614	O75808	CAN15_HUMAN	0			9	2658	+	A	A		Hepatocellular(780;0.00335)	Silent	765			Calpain catalytic.			
CAPN3	0	broad.mit.edu	GRCh37	15	42700426	42700426	+	synonymous_variant	Silent	SNP	G	G	A	rs28364528	byFrequency	TCGA-14-0817-01	TCGA-14-0817-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397163.3:c.1818G>A	p.Ser606=	p.S606=	ENST00000397163	NM_000070.2	606	tcG/tcA	0	A:0.0007	A:0.0008	1	A:0		A	S	uc001zpn.1	protein_coding	YES	CCDS45245.1			1818/2466									central_nervous_system(1)	1	c.(1816-1818)TCG>TCA			hmmpanther:PTHR10183:SF49,hmmpanther:PTHR10183	calpain 3 isoform a		A:0	A:0	ENSP00000380349	A:0	16/24	0.000115	0.000481	0.000259	0.000578		1.50E-05			rs28364528,COSM2154827,COSM2154828,COSM2154826	16/24	common_variant		ENST00000397163	Transcript	1	A:0.0002	muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	ENSG00000092529	g.chr15:42700426G>A	1480			LOW								--	--	1																																		CAPN3_uc001zpk.1_Silent_p.S373S|CAPN3_uc001zpl.1_Silent_p.S513S|CAPN3_uc010udf.1_Silent_p.S519S|CAPN3_uc010udg.1_Silent_p.S471S|CAPN3_uc001zpo.1_Silent_p.S600S|CAPN3_uc001zpp.1_Intron|CAPN3_uc001zpq.1_Silent_p.S94S|CAPN3_uc010bcv.1_Intron|CAPN3_uc001zpr.1_5'UTR|CAPN3_uc001zps.1_Intron|CAPN3_uc001zpt.1_Intron	0,1,1,1	1			p.S606S	NM_000070	NP_000061	A:0		0,1,1,1	CAN3_HUMAN	CAPN3	HGNC	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	H3BS30_HUMAN		16	2124	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	UPI000000103F	606		S -> L (in LGMD2A).	Linker.		SNV	CAPN3,synonymous_variant,p.=,ENST00000397163,NM_000070.2;CAPN3,synonymous_variant,p.=,ENST00000356316,;CAPN3,synonymous_variant,p.=,ENST00000318023,;CAPN3,synonymous_variant,p.=,ENST00000357568,NM_024344.1;CAPN3,synonymous_variant,p.=,ENST00000397200,NM_173088.1;CAPN3,synonymous_variant,p.=,ENST00000567071,;CAPN3,5_prime_UTR_variant,,ENST00000569136,;CAPN3,5_prime_UTR_variant,,ENST00000565559,;CAPN3,intron_variant,,ENST00000349748,NM_173087.1;CAPN3,intron_variant,,ENST00000337571,NM_173089.1;CAPN3,intron_variant,,ENST00000397204,NM_173090.1;CAPN3,intron_variant,,ENST00000561817,;CAPN3,intron_variant,,ENST00000569827,;ZNF106,downstream_gene_variant,,ENST00000263805,NM_022473.1;CAPN3,upstream_gene_variant,,ENST00000564503,;RP11-164J13.1,non_coding_transcript_exon_variant,,ENST00000495723,;RP11-164J13.1,non_coding_transcript_exon_variant,,ENST00000466369,;RP11-164J13.1,non_coding_transcript_exon_variant,,ENST00000549793,;RP11-164J13.1,downstream_gene_variant,,ENST00000483208,;CAPN3,upstream_gene_variant,,ENST00000562199,;CAPN3,synonymous_variant,p.=,ENST00000565274,;CAPN3,non_coding_transcript_exon_variant,,ENST00000565173,;CAPN3,upstream_gene_variant,,ENST00000466222,;CAPN3,upstream_gene_variant,,ENST00000567817,;CAPN3,upstream_gene_variant,,ENST00000568153,;	uc001zpn.1	c.1818G>A	2037/3228	2	2			c.1818G>A						15	SNP	c.(1816-1818)TCG>TCA	24	24			central_nervous_system(1)	1	Broad	calpain 3 isoform a			42700426		0.532	ENSG00000092529	2579	g.chr15:42700426G>A	muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity							49.652132	KEEP	13	9	-1	42	45	13	9	-1	57.410467	42	45	0.21	1	0	0	0	0	0	0	1	0	--	--		0	A			CAPN3_uc001zpk.1_Silent_p.S373S|CAPN3_uc001zpl.1_Silent_p.S513S|CAPN3_uc010udf.1_Silent_p.S519S|CAPN3_uc010udg.1_Silent_p.S471S|CAPN3_uc001zpo.1_Silent_p.S600S|CAPN3_uc001zpp.1_Intron|CAPN3_uc001zpq.1_Silent_p.S94S|CAPN3_uc010bcv.1_Intron|CAPN3_uc001zpr.1_5'UTR|CAPN3_uc001zps.1_Intron|CAPN3_uc001zpt.1_Intron	139	GBM-14-0817-TP	p.S606S	G	TCTTCGTTTCGGACAGAGCAA	NM_000070	NP_000061	42700426	P20807	CAN3_HUMAN	0		GBM - Glioblastoma multiforme(94;7.36e-07)	16	2124	+	A	A		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	Silent	606		S -> L (in LGMD2A).	Linker.			
CAPN6	827	broad.mit.edu	GRCh37	X	110494147	110494147	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0216-01	TCGA-06-0216-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324068.1:c.1156C>A	p.Gln386Lys	p.Q386K	ENST00000324068	NM_014289.3	386	Cag/Aag	0			1			T	Q/K	uc004epc.1	protein_coding	YES	CCDS14555.1			1156/1926									ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6	c.(1156-1158)CAG>AAG			Gene3D:2.60.120.380,Pfam_domain:PF01067,Prints_domain:PR00704,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF281,SMART_domains:SM00720,Superfamily_domains:SSF49758	calpain 6				ENSP00000317214		13-Aug									COSM754598	13-Aug	.		ENST00000324068	Transcript			microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	ENSG00000077274	g.chrX:110494147G>T	1483			MODERATE		1.54	low	getma.org/?cm=msa&ty=f&p=CAN6_HUMAN&rb=352&re=495&var=Q386K	getma.org/pdb.php?prot=CAN6_HUMAN&from=352&to=495&var=Q386K	getma.org/?cm=var&var=hg19,X,110494147,G,T&fts=all	Q386K	--	--	1																																		CAPN6_uc011msu.1_Missense_Mutation_p.Q131K	1	1		possibly_damaging(0.621)	p.Q386K	NM_014289	NP_055104		deleterious(0.01)	1	CAN6_HUMAN	CAPN6	HGNC	Q9Y6Q1	CAN6_HUMAN			F5GWQ6_HUMAN		8	1324	-			UPI0000126EA1	386			Domain III.		SNV	CAPN6,missense_variant,p.Gln386Lys,ENST00000324068,NM_014289.3;CAPN6,missense_variant,p.Gln131Lys,ENST00000541758,;	uc004epc.1	c.1156C>A	1324/3568	1	1			c.1156C>A						23	SNP	c.(1156-1158)CAG>AAG	9	9			ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6	Broad	calpain 6			110494147		0.453	ENSG00000077274	2581	g.chrX:110494147G>T	microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding							331.114471	KEEP	71	52	0.577235772	120	108	71	52	0.577235772	335.328861	120	108	0.375405	1	0	0	0	0	1	0	0	0	--	--		0	T			CAPN6_uc011msu.1_Missense_Mutation_p.Q131K	51	GBM-06-0216-TP	p.Q386K	G	ACTCAAACCTGGGGATTCTGC	NM_014289	NP_055104	110494147	Q9Y6Q1	CAN6_HUMAN	0			8	1324	-	T	T			Missense_Mutation	386			Domain III.			
CAPNS1	826	broad.mit.edu	GRCh37	19	36633602	36633602	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0173-01	TCGA-06-0173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000246533.3:c.292G>T	p.Val98Phe	p.V98F	ENST00000246533	NM_001749.2	98	Gtc/Ttc	0			1			T	V/F	uc002odj.2	protein_coding	YES	CCDS12489.1			292/807										0	c.(292-294)GTC>TTC			hmmpanther:PTHR10183:SF38,hmmpanther:PTHR10183,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	calpain, small subunit 1				ENSP00000246533		11-Apr									COSM2150428	11-Apr	.		ENST00000246533	Transcript			positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	ENSG00000126247	g.chr19:36633602G>T	1481			MODERATE		1.185	low	getma.org/?cm=msa&ty=f&p=CPNS1_HUMAN&rb=91&re=125&var=V98F	getma.org/pdb.php?prot=CPNS1_HUMAN&from=91&to=125&var=V98F	getma.org/?cm=var&var=hg19,19,36633602,G,T&fts=all	V98F	--	--	1																																		CAPNS1_uc002odi.1_Missense_Mutation_p.V98F|CAPNS1_uc002odk.2_Missense_Mutation_p.V98F|CAPNS1_uc002odl.2_Missense_Mutation_p.V98F	1	1		possibly_damaging(0.846)	p.V98F	NM_001749	NP_001740		tolerated(0.23)	1	CPNS1_HUMAN	CAPNS1	HGNC	P04632	CPNS1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		U3KPR7_HUMAN,K7ES78_HUMAN,K7EM73_HUMAN		4	449	+	Esophageal squamous(110;0.162)		UPI0000000E07	98			EF-hand 1; atypical.		SNV	CAPNS1,missense_variant,p.Val98Phe,ENST00000246533,NM_001749.2,NM_001003962.1;CAPNS1,missense_variant,p.Val98Phe,ENST00000587718,;CAPNS1,missense_variant,p.Val98Phe,ENST00000588815,;CAPNS1,missense_variant,p.Val98Phe,ENST00000588780,;CAPNS1,missense_variant,p.Val98Phe,ENST00000591041,;CAPNS1,missense_variant,p.Val43Phe,ENST00000586851,;CAPNS1,missense_variant,p.Val30Phe,ENST00000586963,;CAPNS1,5_prime_UTR_variant,,ENST00000592354,;CAPNS1,intron_variant,,ENST00000590874,;CAPNS1,intron_variant,,ENST00000589146,;CAPNS1,intron_variant,,ENST00000590211,;CAPNS1,downstream_gene_variant,,ENST00000592483,;AD001527.7,downstream_gene_variant,,ENST00000604228,;CAPNS1,missense_variant,p.Val49Phe,ENST00000590049,;CAPNS1,upstream_gene_variant,,ENST00000589162,;	uc002odj.2	c.292G>T	890/1918	2	2			c.292G>T						19	SNP	c.(292-294)GTC>TTC	48	48				0	Broad	calpain, small subunit 1			36633602		0.622	ENSG00000126247	2584	g.chr19:36633602G>T	positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	Esophageal Squamous(129;1541 1691 5780 18353 34150)			Esophageal Squamous(129;1541 1691 5780 18353 34150)			220.544605	KEEP	48	37	0.564705882	89	73	48	37	0.564705882	225.117855	89	73	0.345622	1	0	0	0	0	1	0	0	0	--	--		0	T			CAPNS1_uc002odi.1_Missense_Mutation_p.V98F|CAPNS1_uc002odk.2_Missense_Mutation_p.V98F|CAPNS1_uc002odl.2_Missense_Mutation_p.V98F	36	GBM-06-0173-TP	p.V98F	G	GAGTGAGGAGGTCCGGCAGTT	NM_001749	NP_001740	36633602	P04632	CPNS1_HUMAN	0	LUSC - Lung squamous cell carcinoma(66;0.06)		4	449	+	T	T	Esophageal squamous(110;0.162)		Missense_Mutation	98			EF-hand 1; atypical.			
CAPRIN2	65981	broad.mit.edu	GRCh37	12	30888067	30888067	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs139487645	byFrequency	TCGA-06-0173-01	TCGA-06-0173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298892.5:c.644G>A	p.Arg215Gln	p.R215Q	ENST00000298892	NM_023925.3	215	cGa/cAa	0	T:0.0009		1			T	R/Q	uc001rji.1	protein_coding	YES	CCDS8720.1			644/3234									ovary(1)|central_nervous_system(1)	2	c.(643-645)CGA>CAA			hmmpanther:PTHR22922,hmmpanther:PTHR22922:SF5	C1q domain containing 1 isoform 1			T:0.0001	ENSP00000298892		17-Apr	0.000107	0.000769				4.50E-05		0.000121	rs139487645,COSM185132	17-Apr	common_variant		ENST00000298892	Transcript			negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	ENSG00000110888	g.chr12:30888067C>T	21259			MODERATE		1.545	low	getma.org/?cm=msa&ty=f&p=CAPR2_HUMAN&rb=201&re=400&var=R215Q	NA	getma.org/?cm=var&var=hg19,12,30888067,C,T&fts=all	R215Q	--	--	1																																		CAPRIN2_uc001rjf.1_Missense_Mutation_p.R12Q|CAPRIN2_uc001rjg.1_5'UTR|CAPRIN2_uc001rjh.1_Missense_Mutation_p.R215Q|CAPRIN2_uc001rjj.1_5'UTR|CAPRIN2_uc001rjk.3_Missense_Mutation_p.R215Q|CAPRIN2_uc001rjl.3_Missense_Mutation_p.R215Q	0,1	1		possibly_damaging(0.515)	p.R215Q	NM_001002259	NP_001002259		tolerated(0.14)	0,1	CAPR2_HUMAN	CAPRIN2	HGNC	Q6IMN6	CAPR2_HUMAN			F5H7T6_HUMAN,F5H5J8_HUMAN,F5GZX3_HUMAN,F5GYA1_HUMAN,F5GXI7_HUMAN		4	1395	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		UPI000007080A	215			Potential.		SNV	CAPRIN2,missense_variant,p.Arg215Gln,ENST00000251071,NM_032156.3,NM_001002259.1;CAPRIN2,missense_variant,p.Arg215Gln,ENST00000298892,NM_023925.3;CAPRIN2,missense_variant,p.Arg215Gln,ENST00000395805,NM_001206856.1;CAPRIN2,missense_variant,p.Arg215Gln,ENST00000417045,;CAPRIN2,missense_variant,p.Arg134Gln,ENST00000537108,;CAPRIN2,missense_variant,p.Arg134Gln,ENST00000542550,;CAPRIN2,missense_variant,p.Arg12Gln,ENST00000541765,;CAPRIN2,missense_variant,p.Arg12Gln,ENST00000543380,;CAPRIN2,5_prime_UTR_variant,,ENST00000308433,;CAPRIN2,upstream_gene_variant,,ENST00000433722,;CAPRIN2,downstream_gene_variant,,ENST00000540584,;CAPRIN2,downstream_gene_variant,,ENST00000540436,;CAPRIN2,non_coding_transcript_exon_variant,,ENST00000538387,;CAPRIN2,non_coding_transcript_exon_variant,,ENST00000546129,;CAPRIN2,non_coding_transcript_exon_variant,,ENST00000534897,;CAPRIN2,missense_variant,p.Arg215Gln,ENST00000454014,;CAPRIN2,missense_variant,p.Arg72Gln,ENST00000548676,;CAPRIN2,3_prime_UTR_variant,,ENST00000537553,;CAPRIN2,upstream_gene_variant,,ENST00000553026,;	uc001rji.1	c.644G>A	1395/4334	2	2			c.644G>A						12	SNP	c.(643-645)CGA>CAA	47	47			ovary(1)|central_nervous_system(1)	2	Broad	C1q domain containing 1 isoform 1			30888067		0.413	ENSG00000110888	2587	g.chr12:30888067C>T	negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding							356.857288	KEEP	68	54	-1	111	117	68	54	-1	362.341062	111	117	0.362538	1	0	0	0	0	1	0	0	0	--	--		0	T			CAPRIN2_uc001rjf.1_Missense_Mutation_p.R12Q|CAPRIN2_uc001rjg.1_5'UTR|CAPRIN2_uc001rjh.1_Missense_Mutation_p.R215Q|CAPRIN2_uc001rjj.1_5'UTR|CAPRIN2_uc001rjk.3_Missense_Mutation_p.R215Q|CAPRIN2_uc001rjl.3_Missense_Mutation_p.R215Q	36	GBM-06-0173-TP	p.R215Q	C	AAGTATAGTTCGAAGCTTTTT	NM_001002259	NP_001002259	30888067	Q6IMN6	CAPR2_HUMAN	0			4	1395	-	T	T	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		Missense_Mutation	215			Potential.			
CAPS2	84698	broad.mit.edu	GRCh37	12	75678781	75678781	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-2562-01	TCGA-06-2562-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409445.3:c.1532T>C	p.Ile511Thr	p.I511T	ENST00000409445	NM_032606.3	511	aTt/aCt	0			1			G	I/T	uc001sxk.3	protein_coding	YES	CCDS9008.2			1532/1674									ovary(2)	2	c.(1531-1533)ATT>ACT			Superfamily_domains:SSF47473,SMART_domains:SM00054,Gene3D:1.10.238.10,hmmpanther:PTHR10891:SF548,hmmpanther:PTHR10891,PROSITE_profiles:PS50222	calcyphosine 2				ENSP00000386959		16/18									COSM2152779,COSM2152778	16/18	.		ENST00000409445	Transcript					calcium ion binding	ENSG00000180881	g.chr12:75678781A>G	16471			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=CAYP2_HUMAN&rb=481&re=516&var=I511T	NA	getma.org/?cm=var&var=hg19,12,75678781,A,G&fts=all	I511T	--	--	1																																		CAPS2_uc001sxm.3_Missense_Mutation_p.I279T|CAPS2_uc009zsa.2_Missense_Mutation_p.I101T|CAPS2_uc001sxi.3_Missense_Mutation_p.I247T|CAPS2_uc001sxj.3_Missense_Mutation_p.I422T|CAPS2_uc001sxl.3_Missense_Mutation_p.I492T	1,1	1		benign(0.206)	p.I511T	NM_032606	NP_115995		tolerated(0.12)	1,1	CAYP2_HUMAN	CAPS2	HGNC	Q9BXY5	CAYP2_HUMAN			F8VZC3_HUMAN		16	1729	-			UPI000006D783	511			EF-hand 2.		SNV	CAPS2,missense_variant,p.Ile279Thr,ENST00000393284,;CAPS2,missense_variant,p.Ile101Thr,ENST00000442339,NM_001286549.1;CAPS2,missense_variant,p.Ile511Thr,ENST00000409445,NM_032606.3;CAPS2,missense_variant,p.Ile429Thr,ENST00000409799,NM_001286547.1;RP11-560G2.1,intron_variant,,ENST00000549953,;CAPS2,non_coding_transcript_exon_variant,,ENST00000409004,;CAPS2,3_prime_UTR_variant,,ENST00000328705,NM_001286548.1;CAPS2,3_prime_UTR_variant,,ENST00000336815,NM_001286549.1;	uc001sxk.3	c.1532T>C	1729/2135	3	3			c.1532T>C						12	SNP	c.(1531-1533)ATT>ACT	64	64			ovary(2)	2	Broad	calcyphosine 2			75678781		0.313	ENSG00000180881	2589	g.chr12:75678781A>G			calcium ion binding							96.739049	KEEP	11	18	-1	20	19	11	18	-1	97.307101	20	19	0.4	1	0	0	0	0	1	0	0	0	--	--		0	G			CAPS2_uc001sxm.3_Missense_Mutation_p.I279T|CAPS2_uc009zsa.2_Missense_Mutation_p.I101T|CAPS2_uc001sxi.3_Missense_Mutation_p.I247T|CAPS2_uc001sxj.3_Missense_Mutation_p.I422T|CAPS2_uc001sxl.3_Missense_Mutation_p.I492T	85	GBM-06-2562-TP	p.I511T	A	CATTTCACCAATAATACCACG	NM_032606	NP_115995	75678781	Q9BXY5	CAYP2_HUMAN	0			16	1729	-	G	G			Missense_Mutation	511			EF-hand 2.			
CAPS2	84698	broad.mit.edu	GRCh37	12	75692734	75692734	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-5415-01	TCGA-06-5415-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409445.3:c.924T>G	p.Asp308Glu	p.D308E	ENST00000409445	NM_032606.3	308	gaT/gaG	0			1			C	D/E	uc001sxk.3	protein_coding	YES	CCDS9008.2			924/1674									ovary(2)	2	c.(922-924)GAT>GAG			hmmpanther:PTHR10891:SF548,hmmpanther:PTHR10891	calcyphosine 2				ENSP00000386959		18-Nov									COSM2153224,COSM2153223	18-Nov	.		ENST00000409445	Transcript					calcium ion binding	ENSG00000180881	g.chr12:75692734A>C	16471			MODERATE		2.155	medium	getma.org/?cm=msa&ty=f&p=CAYP2_HUMAN&rb=201&re=400&var=D308E	NA	getma.org/?cm=var&var=hg19,12,75692734,A,C&fts=all	D308E	--	--	1																																		CAPS2_uc001sxm.3_Missense_Mutation_p.D76E|CAPS2_uc009zsa.2_Intron|CAPS2_uc001sxi.3_Intron|CAPS2_uc001sxj.3_Intron|CAPS2_uc001sxl.3_Missense_Mutation_p.D289E	1,1	1		benign(0.216)	p.D308E	NM_032606	NP_115995		tolerated(0.06)	1,1	CAYP2_HUMAN	CAPS2	HGNC	Q9BXY5	CAYP2_HUMAN			F8VZC3_HUMAN		11	1121	-			UPI000006D783	308					SNV	CAPS2,missense_variant,p.Asp76Glu,ENST00000393284,;CAPS2,missense_variant,p.Asp308Glu,ENST00000409445,NM_032606.3;CAPS2,intron_variant,,ENST00000442339,NM_001286549.1;CAPS2,intron_variant,,ENST00000409799,NM_001286547.1;CAPS2,downstream_gene_variant,,ENST00000552497,;RP11-560G2.1,downstream_gene_variant,,ENST00000549953,;RP11-560G2.1,downstream_gene_variant,,ENST00000534648,;CAPS2,intron_variant,,ENST00000409004,;CAPS2,3_prime_UTR_variant,,ENST00000328705,NM_001286548.1;CAPS2,intron_variant,,ENST00000336815,NM_001286549.1;	uc001sxk.3	c.924T>G	1121/2135	4	4			c.924T>G						12	SNP	c.(922-924)GAT>GAG	47	47			ovary(2)	2	Broad	calcyphosine 2			75692734		0.308	ENSG00000180881	2589	g.chr12:75692734A>C			calcium ion binding							131.325201	KEEP	11	27	-1	27	23	11	27	-1	131.546709	27	23	0.443038	1	0	0	0	0	1	0	0	0	--	--		0	C			CAPS2_uc001sxm.3_Missense_Mutation_p.D76E|CAPS2_uc009zsa.2_Intron|CAPS2_uc001sxi.3_Intron|CAPS2_uc001sxj.3_Intron|CAPS2_uc001sxl.3_Missense_Mutation_p.D289E	98	GBM-06-5415-TP	p.D308E	A	CTCTGCAAGCATCACGTCCAT	NM_032606	NP_115995	75692734	Q9BXY5	CAYP2_HUMAN	0			11	1121	-	C	C			Missense_Mutation	308						
CARD10	29775		GRCh37	22	37906263	37906263	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000403299.1:c.865C>T	p.Arg289Trp	p.R289W	ENST00000403299		289	Cgg/Tgg	0																																																																																																																																																																																																																																												
CARD11	84433	broad.mit.edu	GRCh37	7	2983971	2983971	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01	TCGA-06-5859-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396946.4:c.559C>T	p.Arg187Trp	p.R187W	ENST00000396946	NM_032415.4	187	Cgg/Tgg	0			1			A	R/W	uc003smv.2	protein_coding	YES	CCDS5336.2			559/3465	Mis				DLBCL				haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50	c.(559-561)CGG>TGG			hmmpanther:PTHR14559,hmmpanther:PTHR14559:SF10	caspase recruitment domain family, member 11				ENSP00000380150		25-May									COSM384502	25-May	.		ENST00000396946	Transcript	1		positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	ENSG00000198286	g.chr7:2983971G>A	16393			MODERATE		0.62	neutral	getma.org/?cm=msa&ty=f&p=CAR11_HUMAN&rb=110&re=309&var=R187W	NA	getma.org/?cm=var&var=hg19,7,2983971,G,A&fts=all	R187W	--	--	1																																			1	1		probably_damaging(1)	p.R187W	NM_032415	NP_115791		tolerated(0.21)	1	CAR11_HUMAN	CARD11	HGNC	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	Q8TES3_HUMAN,E2QRC0_HUMAN		5	963	-		Ovarian(82;0.0115)	UPI00003FED38	187			Potential.		SNV	CARD11,missense_variant,p.Arg187Trp,ENST00000396946,NM_032415.4;CARD11,downstream_gene_variant,,ENST00000356408,;AC004906.3,non_coding_transcript_exon_variant,,ENST00000423194,;	uc003smv.2	c.559C>T	963/4366	2	2			c.559C>T	Mis				DLBCL	7	SNP	c.(559-561)CGG>TGG	35	35			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50	Broad	caspase recruitment domain family, member 11			2983971		0.557	ENSG00000198286	2596	g.chr7:2983971G>A	positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			1492			1492	119.644635	KEEP	33	22	-1	68	66	33	22	-1	126.412219	68	66	0.287425	1	0	0	0	0	1	0	0	0	--	--		0	A				103	GBM-06-5859-TP	p.R187W	G	TAGCTGTCCCGCTCTTCCTTC	NM_032415	NP_115791	2983971	Q9BXL7	CAR11_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	5	963	-	A	A		Ovarian(82;0.0115)	Missense_Mutation	187			Potential.			
CARD11	0	broad.mit.edu	GRCh37	7	2951813	2951813	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6698-01	TCGA-06-6698-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396946.4:c.3137C>T	p.Ala1046Val	p.A1046V	ENST00000396946	NM_032415.4	1046	gCc/gTc	0	A:0		1			A	A/V	uc003smv.2	protein_coding	YES	CCDS5336.2			3137/3465	Mis				DLBCL				haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50	c.(3136-3138)GCC>GTC			hmmpanther:PTHR14559,hmmpanther:PTHR14559:SF10,Superfamily_domains:SSF52540	caspase recruitment domain family, member 11			A:0.0001	ENSP00000380150		23/25	3.30E-05					6.06E-05			rs377327574,COSM3411965	23/25	.		ENST00000396946	Transcript	1		positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	ENSG00000198286	g.chr7:2951813G>A	16393			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=CAR11_HUMAN&rb=973&re=1140&var=A1046V	getma.org/pdb.php?prot=CAR11_HUMAN&from=973&to=1140&var=A1046V	getma.org/?cm=var&var=hg19,7,2951813,G,A&fts=all	A1046V	--	--	1																																			0,1	1		benign(0.108)	p.A1046V	NM_032415	NP_115791		tolerated(0.15)	0,1	CAR11_HUMAN	CARD11	HGNC	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	Q8TES3_HUMAN,E2QRC0_HUMAN		23	3541	-		Ovarian(82;0.0115)	UPI00003FED38	1046			Guanylate kinase-like.		SNV	CARD11,missense_variant,p.Ala1046Val,ENST00000396946,NM_032415.4;	uc003smv.2	c.3137C>T	3541/4366	2	2			c.3137C>T	Mis				DLBCL	7	SNP	c.(3136-3138)GCC>GTC	34	34			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50	Broad	caspase recruitment domain family, member 11			2951813		0.602	ENSG00000198286	2596	g.chr7:2951813G>A	positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			1492			1492	87.312948	KEEP	21	15	-1	45	21	21	15	-1	88.255565	45	21	0.388235	1	0	0	0	0	1	0	0	0	--	--		0	A				112	GBM-06-6698-TP	p.A1046V	G	CACCTTGGCGGCCACAGCTTC	NM_032415	NP_115791	2951813	Q9BXL7	CAR11_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	23	3541	-	A	A		Ovarian(82;0.0115)	Missense_Mutation	1046			Guanylate kinase-like.			
CARD11	0	broad.mit.edu	GRCh37	7	2963984	2963984	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0787-01	TCGA-14-0787-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396946.4:c.1823G>A	p.Arg608His	p.R608H	ENST00000396946	NM_032415.4	608	cGc/cAc	0			1			T	R/H	uc003smv.2	protein_coding	YES	CCDS5336.2			1823/3465	Mis				DLBCL	not_provided			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50	c.(1822-1824)CGC>CAC			hmmpanther:PTHR14559,hmmpanther:PTHR14559:SF10	caspase recruitment domain family, member 11				ENSP00000380150		15/25									rs587778150,COSM3411969	15/25	.		ENST00000396946	Transcript	1		positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	ENSG00000198286	g.chr7:2963984C>T	16393			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CAR11_HUMAN&rb=510&re=709&var=R608H	NA	getma.org/?cm=var&var=hg19,7,2963984,C,T&fts=all	R608H	--	--	1																																			1,1	1		benign(0.005)	p.R608H	NM_032415	NP_115791		tolerated(0.21)	0,1	CAR11_HUMAN	CARD11	HGNC	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	Q8TES3_HUMAN,E2QRC0_HUMAN		15	2227	-		Ovarian(82;0.0115)	UPI00003FED38	608					SNV	CARD11,missense_variant,p.Arg608His,ENST00000396946,NM_032415.4;CARD11,missense_variant,p.Arg79His,ENST00000355508,;CARD11,upstream_gene_variant,,ENST00000480332,;	uc003smv.2	c.1823G>A	2227/4366	1	1			c.1823G>A	Mis				DLBCL	7	SNP	c.(1822-1824)CGC>CAC	15	15			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50	Broad	caspase recruitment domain family, member 11			2963984		0.642	ENSG00000198286	2596	g.chr7:2963984C>T	positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			1492			1492	70.971072	KEEP	17	13	-1	44	39	17	13	-1	76.459224	44	39	0.261682	1	0	0	0	0	1	0	0	0	--	--		0	T				135	GBM-14-0787-TP	p.R608H	C	GAAGGAGTAGCGTTCGTGACT	NM_032415	NP_115791	2963984	Q9BXL7	CAR11_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	15	2227	-	T	T		Ovarian(82;0.0115)	Missense_Mutation	608						
CARD11	0	broad.mit.edu	GRCh37	7	2953020	2953020	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01	TCGA-28-5209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396946.4:c.2920C>T	p.Arg974Cys	p.R974C	ENST00000396946	NM_032415.4	974	Cgc/Tgc	0	A:0	A:0	1	A:0		A	R/C	uc003smv.2	protein_coding	YES	CCDS5336.2			2920/3465	Mis				DLBCL				haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50	c.(2920-2922)CGC>TGC			Gene3D:3.40.50.300,hmmpanther:PTHR14559,hmmpanther:PTHR14559:SF10	caspase recruitment domain family, member 11		A:0	A:0.0002	ENSP00000380150	A:0.001	22/25	0.000371				0.000762	0.000611			rs201847585,COSM3027783	22/25	common_variant		ENST00000396946	Transcript	1	A:0.0002	positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	ENSG00000198286	g.chr7:2953020G>A	16393			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CAR11_HUMAN&rb=973&re=1140&var=R974C	NA	getma.org/?cm=var&var=hg19,7,2953020,G,A&fts=all	R974C	--	--	1																																			0,1	1		possibly_damaging(0.901)	p.R974C	NM_032415	NP_115791	A:0	deleterious(0.01)	0,1	CAR11_HUMAN	CARD11	HGNC	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	Q8TES3_HUMAN,E2QRC0_HUMAN		22	3324	-		Ovarian(82;0.0115)	UPI00003FED38	974			Guanylate kinase-like.		SNV	CARD11,missense_variant,p.Arg974Cys,ENST00000396946,NM_032415.4;CARD11,downstream_gene_variant,,ENST00000480332,;	uc003smv.2	c.2920C>T	3324/4366	2	2			c.2920C>T	Mis				DLBCL	7	SNP	c.(2920-2922)CGC>TGC	33	33			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50	Broad	caspase recruitment domain family, member 11			2953020		0.652	ENSG00000198286	2596	g.chr7:2953020G>A	positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			1492			1492	181.882871	KEEP	33	40	-1	61	88	33	40	-1	187.626689	61	88	0.317949	1	0	0	0	0	1	0	0	0	--	--		0	A				218	GBM-28-5209-TP	p.R974C	G	ACGGGCCGGCGGCGCTCGCAG	NM_032415	NP_115791	2953020	Q9BXL7	CAR11_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	22	3324	-	A	A		Ovarian(82;0.0115)	Missense_Mutation	974			Guanylate kinase-like.			
CARD11	0	broad.mit.edu	GRCh37	7	2984147	2984147	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-4931-01	TCGA-76-4931-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396946.4:c.383C>G	p.Thr128Arg	p.T128R	ENST00000396946	NM_032415.4	128	aCg/aGg	0			1			C	T/R	uc003smv.2	protein_coding	YES	CCDS5336.2			383/3465	Mis				DLBCL			p.T121M(2)	haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50	c.(382-384)ACG>AGG			hmmpanther:PTHR14559,hmmpanther:PTHR14559:SF10	caspase recruitment domain family, member 11				ENSP00000380150		25-May									COSM3411970	25-May	.		ENST00000396946	Transcript	1		positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	ENSG00000198286	g.chr7:2984147G>C	16393			MODERATE		2.05	medium	getma.org/?cm=msa&ty=f&p=CAR11_HUMAN&rb=110&re=309&var=T128R	NA	getma.org/?cm=var&var=hg19,7,2984147,G,C&fts=all	T128R	--	--	1																																			1	1		probably_damaging(0.987)	p.T128R	NM_032415	NP_115791		deleterious(0)	1	CAR11_HUMAN	CARD11	HGNC	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	Q8TES3_HUMAN,E2QRC0_HUMAN		5	787	-		Ovarian(82;0.0115)	UPI00003FED38	128					SNV	CARD11,missense_variant,p.Thr128Arg,ENST00000396946,NM_032415.4;CARD11,downstream_gene_variant,,ENST00000356408,;AC004906.3,splice_region_variant,,ENST00000423194,;	uc003smv.2	c.383C>G	787/4366	3	3			c.383C>G	Mis				DLBCL	7	SNP	c.(382-384)ACG>AGG	3	3		p.T121M(2)	haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50	Broad	caspase recruitment domain family, member 11			2984147		0.622	ENSG00000198286	2596	g.chr7:2984147G>C	positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			1492			1492	136.023139	KEEP	28	23	-1	73	74	28	23	-1	145.882361	73	74	0.258065	1	0	0	0	0	1	0	0	0	--	--		0	C				270	GBM-76-4931-TP	p.T128R	G	CAGGAAGTGCGTGAGGCCCTC	NM_032415	NP_115791	2984147	Q9BXL7	CAR11_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	5	787	-	C	C		Ovarian(82;0.0115)	Missense_Mutation	128						
CARD14	0	broad.mit.edu	GRCh37	17	78157817	78157817	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01	TCGA-41-3392-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344227.2:c.455G>A	p.Arg152Gln	p.R152Q	ENST00000344227	NM_024110.4	152	cGg/cAg	0			1			A	R/Q	uc002jxw.1	protein_coding		CCDS11768.1			455/3015									ovary(4)|skin(1)	5	c.(454-456)CGG>CAG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14559,hmmpanther:PTHR14559:SF1	caspase recruitment domain protein 14 isoform 1				ENSP00000344549		21-Apr	2.49E-05					3.87E-05		0.000124	rs747495913,COSM1387020	21-Apr	.		ENST00000344227	Transcript	1		activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	ENSG00000141527	g.chr17:78157817G>A	16446			MODERATE		-0.255	neutral	getma.org/?cm=msa&ty=f&p=CAR14_HUMAN&rb=107&re=290&var=R152Q	NA	getma.org/?cm=var&var=hg19,17,78157817,G,A&fts=all	R152Q	--	--	1																																		CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Missense_Mutation_p.R152Q|CARD14_uc010wud.1_RNA	0,1			benign(0.001)	p.R152Q	NM_024110	NP_077015		tolerated(0.62)	0,1	CAR14_HUMAN	CARD14	HGNC	Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		I3L4Q8_HUMAN,I3L1Z7_HUMAN		4	650	+	all_neural(118;0.0952)		UPI000013D81B	152			Potential.		SNV	CARD14,missense_variant,p.Arg152Gln,ENST00000573882,;CARD14,missense_variant,p.Arg152Gln,ENST00000344227,NM_024110.4;CARD14,missense_variant,p.Arg152Gln,ENST00000570421,NM_001257970.1;CARD14,upstream_gene_variant,,ENST00000392434,;CARD14,downstream_gene_variant,,ENST00000575465,;CARD14,downstream_gene_variant,,ENST00000576785,;CARD14,upstream_gene_variant,,ENST00000573754,;CARD14,downstream_gene_variant,,ENST00000573489,;CARD14,missense_variant,p.Arg152Gln,ENST00000575500,;CARD14,upstream_gene_variant,,ENST00000571450,;CARD14,upstream_gene_variant,,ENST00000571861,;CARD14,upstream_gene_variant,,ENST00000572838,;	uc002jxw.1	c.455G>A	656/3927	1	1			c.455G>A						17	SNP	c.(454-456)CGG>CAG	54	54			ovary(4)|skin(1)	5	Broad	caspase recruitment domain protein 14 isoform 1			78157817		0.667	ENSG00000141527	2597	g.chr17:78157817G>A	activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			565			565	6.349043	KEEP	2	0	-1	1	3	2	0	-1	6.392763	1	3	0.4	1	0	0	0	0	1	0	0	0	--	--		0	A			CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Missense_Mutation_p.R152Q|CARD14_uc010wud.1_RNA	254	GBM-41-3392-TP	p.R152Q	G	CTGCTGCGGCGGTGCCAGCAG	NM_024110	NP_077015	78157817	Q9BXL6	CAR14_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		4	650	+	A	A	all_neural(118;0.0952)		Missense_Mutation	152			Potential.			
CARD16	0	broad.mit.edu	GRCh37	11	104915384	104915384	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T			TCGA-15-0742-01	TCGA-15-0742-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375706.2:c.9C>A	p.Asp3Glu	p.D3E	ENST00000375706	NM_001017534.1	3	gaC/gaA	0			1			T	D/E	uc001pip.1	protein_coding	YES	CCDS31661.1			9/594									skin(1)	1	c.(7-9)GAC>GAA			Superfamily_domains:SSF47986,SMART_domains:SM00114,Gene3D:1.10.533.10,hmmpanther:PTHR10454,hmmpanther:PTHR10454:SF34,PROSITE_profiles:PS50209	caspase-1 dominant-negative inhibitor pseudo-ICE				ENSP00000364858		3-Feb									COSM3397372,COSM3397373	3-Feb	.		ENST00000375706	Transcript			regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity	ENSG00000204397	g.chr11:104915384G>T	33701			MODERATE		2.77	medium	getma.org/?cm=msa&ty=f&p=CAR16_HUMAN&rb=3&re=90&var=D3E	getma.org/pdb.php?prot=CAR16_HUMAN&from=3&to=90&var=D3E	getma.org/?cm=var&var=hg19,11,104915384,G,T&fts=all	D3E	--	--	1																																		CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CARD16_uc001pio.1_Missense_Mutation_p.D3E	1,1	1		probably_damaging(0.993)	p.D3E	NM_001017534	NP_001017534		deleterious(0.03)	1,1	CAR16_HUMAN	CARD16	HGNC	Q5EG05	CAR16_HUMAN			E9PQW1_HUMAN		2	36	-			UPI00004C9CE7	3			CARD.		SNV	CARD16,missense_variant,p.Asp3Glu,ENST00000375706,NM_001017534.1;CARD16,missense_variant,p.Asp3Glu,ENST00000375704,NM_052889.2;CARD16,missense_variant,p.Asp3Glu,ENST00000525374,;CARD16,splice_region_variant,,ENST00000528513,;CASP1,intron_variant,,ENST00000598974,;CASP1,intron_variant,,ENST00000593315,;CASP1,intron_variant,,ENST00000594519,;CASP1,intron_variant,,ENST00000415981,;CARD16,non_coding_transcript_exon_variant,,ENST00000527065,;	uc001pip.1	c.9C>A	27/686	1	1			c.9C>A						11	SNP	c.(7-9)GAC>GAA	16	16			skin(1)	1	Broad	caspase-1 dominant-negative inhibitor pseudo-ICE			104915384		0.408	ENSG00000204397	2598	g.chr11:104915384G>T	regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity							754.548727	KEEP	144	115	0.555984556	196	136	144	115	0.555984556	755.959404	196	136	0.444231	1	0	0	0	0	1	0	0	0	--	--		0	T			CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CARD16_uc001pio.1_Missense_Mutation_p.D3E	153	GBM-15-0742-TP	p.D3E	G	TCAGGACCTTGTCTGTTTGGA	NM_001017534	NP_001017534	104915384	Q5EG05	CAR16_HUMAN	0			2	36	-	T	T			Missense_Mutation	3			CARD.			
CARD16	0	broad.mit.edu	GRCh37	11	104912141	104912141	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5204-01	TCGA-28-5204-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375706.2:c.580C>T	p.His194Tyr	p.H194Y	ENST00000375706	NM_001017534.1	194	Cat/Tat	0			1			A	H/Y	uc001pip.1	protein_coding	YES	CCDS31661.1			580/594									skin(1)	1	c.(580-582)CAT>TAT			hmmpanther:PTHR10454,hmmpanther:PTHR10454:SF34	caspase-1 dominant-negative inhibitor pseudo-ICE				ENSP00000364858		3-Mar									COSM3397371	3-Mar	.		ENST00000375706	Transcript			regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity	ENSG00000204397	g.chr11:104912141G>A	33701			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=CAR16_HUMAN&rb=91&re=197&var=H194Y	NA	getma.org/?cm=var&var=hg19,11,104912141,G,A&fts=all	H194Y	--	--	1																																		CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CARD16_uc001pio.1_3'UTR	1	1		benign(0.152)	p.H194Y	NM_001017534	NP_001017534		deleterious_low_confidence(0)	1	CAR16_HUMAN	CARD16	HGNC	Q5EG05	CAR16_HUMAN			E9PQW1_HUMAN		3	607	-			UPI00004C9CE7	194					SNV	CARD16,missense_variant,p.His194Tyr,ENST00000375706,NM_001017534.1;CASP1,intron_variant,,ENST00000598974,;CASP1,intron_variant,,ENST00000593315,;CASP1,intron_variant,,ENST00000594519,;CASP1,intron_variant,,ENST00000415981,;CARD16,downstream_gene_variant,,ENST00000375704,NM_052889.2;CARD16,downstream_gene_variant,,ENST00000525374,;CARD16,downstream_gene_variant,,ENST00000528513,;CARD16,downstream_gene_variant,,ENST00000527065,;	uc001pip.1	c.580C>T	598/686	2	2			c.580C>T						11	SNP	c.(580-582)CAT>TAT	41	41			skin(1)	1	Broad	caspase-1 dominant-negative inhibitor pseudo-ICE			104912141		0.398	ENSG00000204397	2598	g.chr11:104912141G>A	regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity							122.283613	KEEP	26	28	-1	34	51	26	28	-1	123.607473	34	51	0.38843	1	0	0	0	0	1	0	0	0	--	--		0	A			CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CARD16_uc001pio.1_3'UTR	215	GBM-28-5204-TP	p.H194Y	G	GATAATTTATGAGTTCCAGTT	NM_001017534	NP_001017534	104912141	Q5EG05	CAR16_HUMAN	0			3	607	-	A	A			Missense_Mutation	194						
CARD6	84674	broad.mit.edu	GRCh37	5	40853779	40853779	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01	TCGA-06-0155-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254691.5:c.2345G>A	p.Ser782Asn	p.S782N	ENST00000254691	NM_032587.3	782	aGt/aAt	0			1			A	S/N	uc003jmg.2	protein_coding	YES	CCDS3935.1			2345/3114									ovary(2)|skin(2)|lung(1)	5	c.(2344-2346)AGT>AAT			hmmpanther:PTHR22797,hmmpanther:PTHR22797:SF26	caspase recruitment domain family, member 6				ENSP00000254691		3-Mar									COSM2150014	3-Mar	.		ENST00000254691	Transcript			apoptosis|regulation of apoptosis	intracellular		ENSG00000132357	g.chr5:40853779G>A	16394			MODERATE		-0.145	neutral	getma.org/?cm=msa&ty=f&p=CARD6_HUMAN&rb=671&re=939&var=S782N	NA	getma.org/?cm=var&var=hg19,5,40853779,G,A&fts=all	S782N	--	--	1																																			1	1		benign(0.006)	p.S782N	NM_032587	NP_115976		tolerated(0.43)	1	CARD6_HUMAN	CARD6	HGNC	Q9BX69	CARD6_HUMAN					3	2420	+			UPI000013CE50	782					SNV	CARD6,missense_variant,p.Ser782Asn,ENST00000254691,NM_032587.3;CARD6,intron_variant,,ENST00000381677,;	uc003jmg.2	c.2345G>A	2544/4221	2	2			c.2345G>A						5	SNP	c.(2344-2346)AGT>AAT	46	46			ovary(2)|skin(2)|lung(1)	5	Broad	caspase recruitment domain family, member 6			40853779		0.488	ENSG00000132357	2601	g.chr5:40853779G>A	apoptosis|regulation of apoptosis	intracellular								485.502649	KEEP	92	83	-1	156	138	92	83	-1	492.268987	156	138	0.370044	1	0	0	0	0	1	0	0	0	--	--		0	A				27	GBM-06-0155-TP	p.S782N	G	CGAGGTAAAAGTTTTGGTATT	NM_032587	NP_115976	40853779	Q9BX69	CARD6_HUMAN	0			3	2420	+	A	A			Missense_Mutation	782						
CARD6	84674	broad.mit.edu	GRCh37	5	40852581	40852581	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0211-01	TCGA-06-0211-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254691.5:c.1147A>G	p.Met383Val	p.M383V	ENST00000254691	NM_032587.3	383	Atg/Gtg	0			1			G	M/V	uc003jmg.2	protein_coding	YES	CCDS3935.1			1147/3114									ovary(2)|skin(2)|lung(1)	5	c.(1147-1149)ATG>GTG			hmmpanther:PTHR22797,hmmpanther:PTHR22797:SF26	caspase recruitment domain family, member 6				ENSP00000254691		3-Mar									COSM2150757	3-Mar	.		ENST00000254691	Transcript			apoptosis|regulation of apoptosis	intracellular		ENSG00000132357	g.chr5:40852581A>G	16394			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=CARD6_HUMAN&rb=281&re=669&var=M383V	NA	getma.org/?cm=var&var=hg19,5,40852581,A,G&fts=all	M383V	--	--	1																																			1	1		benign(0.022)	p.M383V	NM_032587	NP_115976		deleterious(0.03)	1	CARD6_HUMAN	CARD6	HGNC	Q9BX69	CARD6_HUMAN					3	1222	+			UPI000013CE50	383					SNV	CARD6,missense_variant,p.Met383Val,ENST00000254691,NM_032587.3;CARD6,intron_variant,,ENST00000381677,;	uc003jmg.2	c.1147A>G	1346/4221	3	3			c.1147A>G						5	SNP	c.(1147-1149)ATG>GTG	16	16			ovary(2)|skin(2)|lung(1)	5	Broad	caspase recruitment domain family, member 6			40852581		0.458	ENSG00000132357	2601	g.chr5:40852581A>G	apoptosis|regulation of apoptosis	intracellular								92.564497	KEEP	17	18	-1	26	34	17	18	-1	94.106658	26	34	0.353659	1	0	0	0	0	1	0	0	0	--	--		0	G				48	GBM-06-0211-TP	p.M383V	A	TTGTGCCACCATGCTGTGTTC	NM_032587	NP_115976	40852581	Q9BX69	CARD6_HUMAN	0			3	1222	+	G	G			Missense_Mutation	383						
CARD6	84674	broad.mit.edu	GRCh37	5	40852866	40852866	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01	TCGA-06-5408-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254691.5:c.1432G>A	p.Ala478Thr	p.A478T	ENST00000254691	NM_032587.3	478	Gcc/Acc	0			1			A	A/T	uc003jmg.2	protein_coding	YES	CCDS3935.1			1432/3114									ovary(2)|skin(2)|lung(1)	5	c.(1432-1434)GCC>ACC			hmmpanther:PTHR22797,hmmpanther:PTHR22797:SF26	caspase recruitment domain family, member 6				ENSP00000254691		3-Mar									COSM3410273	3-Mar	.		ENST00000254691	Transcript			apoptosis|regulation of apoptosis	intracellular		ENSG00000132357	g.chr5:40852866G>A	16394			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=CARD6_HUMAN&rb=281&re=669&var=A478T	NA	getma.org/?cm=var&var=hg19,5,40852866,G,A&fts=all	A478T	--	--	1																																			1	1		benign(0.009)	p.A478T	NM_032587	NP_115976		tolerated(0.25)	1	CARD6_HUMAN	CARD6	HGNC	Q9BX69	CARD6_HUMAN					3	1507	+			UPI000013CE50	478					SNV	CARD6,missense_variant,p.Ala478Thr,ENST00000254691,NM_032587.3;CARD6,intron_variant,,ENST00000381677,;	uc003jmg.2	c.1432G>A	1631/4221	2	2			c.1432G>A						5	SNP	c.(1432-1434)GCC>ACC	29	29			ovary(2)|skin(2)|lung(1)	5	Broad	caspase recruitment domain family, member 6			40852866		0.433	ENSG00000132357	2601	g.chr5:40852866G>A	apoptosis|regulation of apoptosis	intracellular								7.174216	KEEP	3	7	-1	34	50	3	7	-1	21.645371	34	50	0.106383	1	0	0	0	0	1	0	0	0	--	--		0	A				92	GBM-06-5408-TP	p.A478T	G	TCTCAGCCCTGCCCAGTTGAA	NM_032587	NP_115976	40852866	Q9BX69	CARD6_HUMAN	0			3	1507	+	A	A			Missense_Mutation	478						
CARD6	84674	broad.mit.edu	GRCh37	5	40853218	40853218	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-5411-01	TCGA-06-5411-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254691.5:c.1784T>A	p.Ile595Asn	p.I595N	ENST00000254691	NM_032587.3	595	aTt/aAt	0			1			A	I/N	uc003jmg.2	protein_coding	YES	CCDS3935.1			1784/3114									ovary(2)|skin(2)|lung(1)	5	c.(1783-1785)ATT>AAT			hmmpanther:PTHR22797,hmmpanther:PTHR22797:SF26	caspase recruitment domain family, member 6				ENSP00000254691		3-Mar									COSM2153146	3-Mar	.		ENST00000254691	Transcript			apoptosis|regulation of apoptosis	intracellular		ENSG00000132357	g.chr5:40853218T>A	16394			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=CARD6_HUMAN&rb=281&re=669&var=I595N	NA	getma.org/?cm=var&var=hg19,5,40853218,T,A&fts=all	I595N	--	--	1																																			1	1		benign(0.024)	p.I595N	NM_032587	NP_115976		deleterious(0.05)	1	CARD6_HUMAN	CARD6	HGNC	Q9BX69	CARD6_HUMAN					3	1859	+			UPI000013CE50	595					SNV	CARD6,missense_variant,p.Ile595Asn,ENST00000254691,NM_032587.3;CARD6,intron_variant,,ENST00000381677,;	uc003jmg.2	c.1784T>A	1983/4221	2	2			c.1784T>A						5	SNP	c.(1783-1785)ATT>AAT	46	46			ovary(2)|skin(2)|lung(1)	5	Broad	caspase recruitment domain family, member 6			40853218		0.483	ENSG00000132357	2601	g.chr5:40853218T>A	apoptosis|regulation of apoptosis	intracellular								143.279448	KEEP	31	29	-1	68	75	31	29	-1	150.707724	68	75	0.288043	1	0	0	0	0	1	0	0	0	--	--		0	A				94	GBM-06-5411-TP	p.I595N	T	GAGGCTCAAATTTTTCAGAGG	NM_032587	NP_115976	40853218	Q9BX69	CARD6_HUMAN	0			3	1859	+	A	A			Missense_Mutation	595						
CARD6	0	broad.mit.edu	GRCh37	5	40853877	40853877	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-14-0781-01	TCGA-14-0781-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254691.5:c.2445delT	p.Phe815LeufsTer21	p.F815Lfs*21	ENST00000254691	NM_032587.3	815	Ttt/tt	0			1			-	F/X	uc003jmg.2	protein_coding	YES	CCDS3935.1			2443/3114									ovary(2)|skin(2)|lung(1)	5	c.(2443-2445)TTTfs			hmmpanther:PTHR22797,hmmpanther:PTHR22797:SF26	caspase recruitment domain family, member 6				ENSP00000254691		3-Mar										3-Mar	.		ENST00000254691	Transcript			apoptosis|regulation of apoptosis	intracellular		ENSG00000132357	g.chr5:40853877delT	16394	2		HIGH								--	--	1																																				1			p.F815fs	NM_032587	NP_115976				CARD6_HUMAN	CARD6	HGNC	Q9BX69	CARD6_HUMAN					3	2518	+			UPI000013CE50	815					deletion	CARD6,frameshift_variant,p.Phe815LeufsTer21,ENST00000254691,NM_032587.3;CARD6,intron_variant,,ENST00000381677,;	uc003jmg.2	c.2443delT	2642/4221	5	5			c.2443delT						5	DEL	c.(2443-2445)TTTfs	55	55			ovary(2)|skin(2)|lung(1)	5	Broad	caspase recruitment domain family, member 6			40853877		0.453	ENSG00000132357	2601	g.chr5:40853877delT	apoptosis|regulation of apoptosis	intracellular																					0.12	1	1	0	1	0	0	0	0	0	--	--		0	-				133	GBM-14-0781-TP	p.F815fs	T	GAATGGAACATTTGGGAGACT	NM_032587	NP_115976	40853877	Q9BX69	CARD6_HUMAN	0			3	2518	+	-	-			Frame_Shift_Del	815						
CARD6	0	broad.mit.edu	GRCh37	5	40843343	40843343	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-27-2524-01	TCGA-27-2524-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254691.5:c.373C>A	p.Pro125Thr	p.P125T	ENST00000254691	NM_032587.3	125	Cct/Act	0			1			A	P/T	uc003jmg.2	protein_coding	YES	CCDS3935.1			373/3114									ovary(2)|skin(2)|lung(1)	5	c.(373-375)CCT>ACT			hmmpanther:PTHR22797,hmmpanther:PTHR22797:SF26	caspase recruitment domain family, member 6				ENSP00000254691		3-Feb									COSM3410272	3-Feb	.		ENST00000254691	Transcript			apoptosis|regulation of apoptosis	intracellular		ENSG00000132357	g.chr5:40843343C>A	16394			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=CARD6_HUMAN&rb=94&re=280&var=P125T	NA	getma.org/?cm=var&var=hg19,5,40843343,C,A&fts=all	P125T	--	--	1																																			1	1		possibly_damaging(0.758)	p.P125T	NM_032587	NP_115976		deleterious(0.01)	1	CARD6_HUMAN	CARD6	HGNC	Q9BX69	CARD6_HUMAN					2	448	+			UPI000013CE50	125					SNV	CARD6,missense_variant,p.Pro125Thr,ENST00000254691,NM_032587.3;CARD6,missense_variant,p.Pro125Thr,ENST00000381677,;	uc003jmg.2	c.373C>A	572/4221	1	1			c.373C>A						5	SNP	c.(373-375)CCT>ACT	49	49			ovary(2)|skin(2)|lung(1)	5	Broad	caspase recruitment domain family, member 6			40843343		0.403	ENSG00000132357	2601	g.chr5:40843343C>A	apoptosis|regulation of apoptosis	intracellular								80.024839	KEEP	11	23	0.676470588	54	58	11	23	0.676470588	88.76948	54	58	0.23741	1	0	0	0	0	1	0	0	0	--	--		0	A				202	GBM-27-2524-TP	p.P125T	C	AATAAAACAGCCTGAAGCCCC	NM_032587	NP_115976	40843343	Q9BX69	CARD6_HUMAN	0			2	448	+	A	A			Missense_Mutation	125						
CARF	0	broad.mit.edu	GRCh37	2	203846966	203846966	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-27-1834-01	TCGA-27-1834-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000402905.3:c.1861T>C	p.Cys621Arg	p.C621R	ENST00000402905	NM_001104586.1	621	Tgc/Cgc	0			1			C	C/R	uc002uzo.2	protein_coding	YES	CCDS42801.1			1861/2178									large_intestine(1)|ovary(1)	2	c.(1861-1863)TGC>CGC			hmmpanther:PTHR14694,hmmpanther:PTHR14694:SF1	amyotrophic lateral sclerosis 2 (juvenile)				ENSP00000384006		15/16									COSM3407494	15/16	.		ENST00000402905	Transcript						ENSG00000138380	g.chr2:203846966T>C	14435			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=AL2S8_HUMAN&rb=601&re=691&var=C621R	NA	getma.org/?cm=var&var=hg19,2,203846966,T,C&fts=all	C621R	--	--	1																																		ALS2CR8_uc010zia.1_Missense_Mutation_p.C545R|ALS2CR8_uc010zib.1_Missense_Mutation_p.C545R|ALS2CR8_uc010zic.1_Missense_Mutation_p.C533R|ALS2CR8_uc002uzp.2_Missense_Mutation_p.C621R	1	1		possibly_damaging(0.653)	p.C621R	NM_001104586	NP_001098056		tolerated_low_confidence(0.05)	1	CARTF_HUMAN	CARF	HGNC	Q8N187	AL2S8_HUMAN			C9JT99_HUMAN,C9JZI6_HUMAN,C9JZ91_HUMAN,C9JSN4_HUMAN,C9JL40_HUMAN,C9JI92_HUMAN,C9JCD6_HUMAN,C9JBK9_HUMAN		15	2141	+			UPI000007284D	621					SNV	CARF,missense_variant,p.Cys621Arg,ENST00000402905,NM_001104586.1,NM_001282912.1,NM_001282911.1,NM_001282910.1;CARF,missense_variant,p.Cys621Arg,ENST00000320443,;CARF,missense_variant,p.Cys621Arg,ENST00000438828,NM_024744.14;CARF,missense_variant,p.Cys545Arg,ENST00000545262,;CARF,missense_variant,p.Cys545Arg,ENST00000428585,;CARF,missense_variant,p.Cys519Arg,ENST00000414439,;CARF,missense_variant,p.Cys533Arg,ENST00000545253,;WDR12,intron_variant,,ENST00000477723,;	uc002uzo.2	c.1861T>C	2182/5938	3	3			c.1861T>C						2	SNP	c.(1861-1863)TGC>CGC	13	13			large_intestine(1)|ovary(1)	2	Broad	amyotrophic lateral sclerosis 2 (juvenile)			203846966		0.418	ENSG00000138380	550	g.chr2:203846966T>C										26.815652	KEEP	8	12	-1	58	77	8	12	-1	46.270123	58	77	0.130137	1	0	0	0	0	1	0	0	0	--	--		0	C			ALS2CR8_uc010zia.1_Missense_Mutation_p.C545R|ALS2CR8_uc010zib.1_Missense_Mutation_p.C545R|ALS2CR8_uc010zic.1_Missense_Mutation_p.C533R|ALS2CR8_uc002uzp.2_Missense_Mutation_p.C621R	193	GBM-27-1834-TP	p.C621R	T	AAGAGATACATGCTTAACCCA	NM_001104586	NP_001098056	203846966	Q8N187	AL2S8_HUMAN	0			15	2141	+	C	C			Missense_Mutation	621						
CARM1	10498	broad.mit.edu	GRCh37	19	11022906	11022906	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327064.4:c.605C>T	p.Ala202Val	p.A202V	ENST00000327064	NM_199141.1	202	gCc/gTc	0			1			T	A/V	uc002mpz.2	protein_coding	YES	CCDS12250.1			605/1827										0	c.(604-606)GCC>GTC			PROSITE_profiles:PS51678,hmmpanther:PTHR11006,hmmpanther:PTHR11006:SF51,Pfam_domain:PF05185,Gene3D:3.40.50.150,Superfamily_domains:SSF53335	coactivator-associated arginine				ENSP00000325690		16-May									COSM564791	16-May	.		ENST00000327064	Transcript			cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	ENSG00000142453	g.chr19:11022906C>T	23393			MODERATE		3.775	high	getma.org/?cm=msa&ty=f&p=CARM1_HUMAN&rb=143&re=446&var=A202V	getma.org/pdb.php?prot=CARM1_HUMAN&from=143&to=446&var=A202V	getma.org/?cm=var&var=hg19,19,11022906,C,T&fts=all	A202V	--	--	1																																		CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_5'UTR	1	1		probably_damaging(0.972)	p.A202V	NM_199141	NP_954592		deleterious(0)	1	CARM1_HUMAN	CARM1	HGNC	Q86X55	CARM1_HUMAN					5	731	+			UPI000004B825	202					SNV	CARM1,missense_variant,p.Ala202Val,ENST00000327064,NM_199141.1;CARM1,missense_variant,p.Ala202Val,ENST00000344150,;CARM1,downstream_gene_variant,,ENST00000588947,;CARM1,missense_variant,p.Ala161Val,ENST00000586221,;CARM1,3_prime_UTR_variant,,ENST00000590699,;CARM1,3_prime_UTR_variant,,ENST00000589693,;CARM1,3_prime_UTR_variant,,ENST00000590039,;	uc002mpz.2	c.605C>T	795/3032	1	1			c.605C>T						19	SNP	c.(604-606)GCC>GTC	5	5				0	Broad	coactivator-associated arginine			11022906		0.622	ENSG00000142453	2606	g.chr19:11022906C>T	cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding							-132.881884	KEEP	6	2	-1	287	288	6	2	-1	8.497295	287	288	0.011605	1	0	0	0	0	1	0	0	0	--	--		0	T			CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_5'UTR	23	GBM-06-0145-TP	p.A202V	C	TCGTTTTTTGCCGCCCAAGCT	NM_199141	NP_954592	11022906	Q86X55	CARM1_HUMAN	0			5	731	+	T	T			Missense_Mutation	202						
CARM1	10498	broad.mit.edu	GRCh37	19	11022906	11022906	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01	TCGA-06-0155-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327064.4:c.605C>T	p.Ala202Val	p.A202V	ENST00000327064	NM_199141.1	202	gCc/gTc	0			1			T	A/V	uc002mpz.2	protein_coding	YES	CCDS12250.1			605/1827										0	c.(604-606)GCC>GTC			PROSITE_profiles:PS51678,hmmpanther:PTHR11006,hmmpanther:PTHR11006:SF51,Pfam_domain:PF05185,Gene3D:3.40.50.150,Superfamily_domains:SSF53335	coactivator-associated arginine				ENSP00000325690		16-May									COSM564791	16-May	.		ENST00000327064	Transcript			cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	ENSG00000142453	g.chr19:11022906C>T	23393			MODERATE		3.775	high	getma.org/?cm=msa&ty=f&p=CARM1_HUMAN&rb=143&re=446&var=A202V	getma.org/pdb.php?prot=CARM1_HUMAN&from=143&to=446&var=A202V	getma.org/?cm=var&var=hg19,19,11022906,C,T&fts=all	A202V	--	--	1																																		CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_5'UTR	1	1		probably_damaging(0.972)	p.A202V	NM_199141	NP_954592		deleterious(0)	1	CARM1_HUMAN	CARM1	HGNC	Q86X55	CARM1_HUMAN					5	731	+			UPI000004B825	202					SNV	CARM1,missense_variant,p.Ala202Val,ENST00000327064,NM_199141.1;CARM1,missense_variant,p.Ala202Val,ENST00000344150,;CARM1,downstream_gene_variant,,ENST00000588947,;CARM1,missense_variant,p.Ala161Val,ENST00000586221,;CARM1,3_prime_UTR_variant,,ENST00000590699,;CARM1,3_prime_UTR_variant,,ENST00000589693,;CARM1,3_prime_UTR_variant,,ENST00000590039,;	uc002mpz.2	c.605C>T	795/3032	1	1			c.605C>T						19	SNP	c.(604-606)GCC>GTC	5	5				0	Broad	coactivator-associated arginine			11022906		0.622	ENSG00000142453	2606	g.chr19:11022906C>T	cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding							-177.237649	KEEP	3	5	-1	350	396	3	5	-1	8.636515	350	396	0.010386	1	0	0	0	0	1	0	0	0	--	--		0	T			CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_5'UTR	27	GBM-06-0155-TP	p.A202V	C	TCGTTTTTTGCCGCCCAAGCT	NM_199141	NP_954592	11022906	Q86X55	CARM1_HUMAN	0			5	731	+	T	T			Missense_Mutation	202						
CARM1	10498	broad.mit.edu	GRCh37	19	11018751	11018751	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327064.4:c.383G>A	p.Arg128Gln	p.R128Q	ENST00000327064	NM_199141.1	128	cGg/cAg	0			1			A	R/Q	uc002mpz.2	protein_coding	YES	CCDS12250.1			383/1827										0	c.(382-384)CGG>CAG			hmmpanther:PTHR11006,hmmpanther:PTHR11006:SF51,Pfam_domain:PF11531	coactivator-associated arginine				ENSP00000325690		16-Mar									COSM3403743	16-Mar	.		ENST00000327064	Transcript			cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	ENSG00000142453	g.chr19:11018751G>A	23393			MODERATE		0.46	neutral	getma.org/?cm=msa&ty=f&p=CARM1_HUMAN&rb=26&re=139&var=R128Q	getma.org/pdb.php?prot=CARM1_HUMAN&from=26&to=139&var=R128Q	getma.org/?cm=var&var=hg19,19,11018751,G,A&fts=all	R128Q	--	--	1																																		CARM1_uc010dxn.2_RNA	1	1		benign(0.041)	p.R128Q	NM_199141	NP_954592		tolerated(0.15)	1	CARM1_HUMAN	CARM1	HGNC	Q86X55	CARM1_HUMAN					3	509	+			UPI000004B825	128					SNV	CARM1,missense_variant,p.Arg128Gln,ENST00000327064,NM_199141.1;CARM1,missense_variant,p.Arg128Gln,ENST00000344150,;CARM1,missense_variant,p.Arg86Gln,ENST00000588947,;CARM1,missense_variant,p.Arg87Gln,ENST00000586221,;CARM1,missense_variant,p.Arg128Gln,ENST00000590699,;CARM1,missense_variant,p.Arg59Gln,ENST00000589693,;CARM1,missense_variant,p.Arg78Gln,ENST00000590039,;	uc002mpz.2	c.383G>A	573/3032	1	1			c.383G>A						19	SNP	c.(382-384)CGG>CAG	55	55				0	Broad	coactivator-associated arginine			11018751		0.617	ENSG00000142453	2606	g.chr19:11018751G>A	cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding							321.563323	KEEP	60	54	-1	17	21	60	54	-1	329.054528	17	21	0.760331	1	0	0	0	0	1	0	0	0	--	--		0	A			CARM1_uc010dxn.2_RNA	102	GBM-06-5858-TP	p.R128Q	G	AAAACCTGCCGGGGCCACACC	NM_199141	NP_954592	11018751	Q86X55	CARM1_HUMAN	0			3	509	+	A	A			Missense_Mutation	128						
CARTPT	9607		GRCh37	5	71015195	71015195	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000296777.4:c.75C>T	p.Thr25=	p.T25=	ENST00000296777	NM_004291.3	25	acC/acT	0																																																																																																																																																																																																																																												
CASC5	0	broad.mit.edu	GRCh37	15	40911168	40911168	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-14-0740-01	TCGA-14-0740-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000346991.5:c.412T>G	p.Leu138Val	p.L138V	ENST00000346991		138	Ttg/Gtg	0			1			G	L/V	uc010bbs.1	protein_coding	YES	CCDS42023.1			412/7029									breast(3)|central_nervous_system(1)|skin(1)	5	c.(412-414)TTG>GTG			hmmpanther:PTHR16520,hmmpanther:PTHR16520:SF2	cancer susceptibility candidate 5 isoform 1				ENSP00000335463		27-Oct									COSM3401709,COSM3401708	27-Oct	.		ENST00000346991	Transcript	1		acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	ENSG00000137812	g.chr15:40911168T>G	24054			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=CASC5_HUMAN&rb=1&re=2177&var=L138V	NA	getma.org/?cm=var&var=hg19,15,40911168,T,G&fts=all	L138V	--	--	1																																		CASC5_uc010ucq.1_Intron|CASC5_uc001zme.2_Missense_Mutation_p.L112V|CASC5_uc010bbt.1_Missense_Mutation_p.L112V	1,1	1		probably_damaging(0.998)	p.L138V	NM_170589	NP_733468		deleterious(0)	1,1	CASC5_HUMAN	CASC5	HGNC	Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)			10	573	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	UPI0000E59BD3	138			Interaction with BUB1 and BUB1B.		SNV	CASC5,missense_variant,p.Leu138Val,ENST00000346991,;CASC5,missense_variant,p.Leu112Val,ENST00000399668,NM_144508.4,NM_170589.4;CASC5,intron_variant,,ENST00000527044,;RN7SL376P,upstream_gene_variant,,ENST00000578594,;CASC5,non_coding_transcript_exon_variant,,ENST00000533001,;CASC5,intron_variant,,ENST00000534204,;CASC5,upstream_gene_variant,,ENST00000526913,;	uc010bbs.1	c.412T>G	802/9573	3	3			c.412T>G						15	SNP	c.(412-414)TTG>GTG	56	56			breast(3)|central_nervous_system(1)|skin(1)	5	Broad	cancer susceptibility candidate 5 isoform 1			40911168		0.333	ENSG00000137812	2614	g.chr15:40911168T>G	acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			629			629	184.75765	KEEP	29	39	-1	49	41	29	39	-1	185.651428	49	41	0.410853	1	0	0	0	0	1	0	0	0	--	--		0	G			CASC5_uc010ucq.1_Intron|CASC5_uc001zme.2_Missense_Mutation_p.L112V|CASC5_uc010bbt.1_Missense_Mutation_p.L112V	132	GBM-14-0740-TP	p.L138V	T	GATGAACACATTGCTTTCTGC	NM_170589	NP_733468	40911168	Q8NG31	CASC5_HUMAN	0		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	10	573	+	G	G		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	Missense_Mutation	138			Interaction with BUB1 and BUB1B.			
CASKIN1	57524	broad.mit.edu	GRCh37	16	2231462	2231462	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01	TCGA-06-2562-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343516.6:c.1907C>T	p.Pro636Leu	p.P636L	ENST00000343516	NM_020764.3	636	cCg/cTg	0	A:0.0003	A:0	1	A:0		A	P/L	uc010bsg.1	protein_coding	YES	CCDS42103.1			1907/4296									skin(2)	2	c.(1906-1908)CCG>CTG			Low_complexity_(Seg):seg,hmmpanther:PTHR24177:SF12,hmmpanther:PTHR24177	CASK interacting protein 1		A:0	A:0	ENSP00000345436	A:0	18/20	0.000133	0.000247				6.65E-05		0.000643	rs370499776,COSM2152795,COSM2152796	18/20	common_variant		ENST00000343516	Transcript		A:0.0004	signal transduction	cytoplasm		ENSG00000167971	g.chr16:2231462G>A	20879			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=CSKI1_HUMAN&rb=635&re=1292&var=P636L	NA	getma.org/?cm=var&var=hg19,16,2231462,G,A&fts=all	P636L	--	--	1																																			0,1,1	1		benign(0.012)	p.P636L	NM_020764	NP_065815	A:0.002		0,1,1	CSKI1_HUMAN	CASKIN1	HGNC	Q8WXD9	CSKI1_HUMAN			D3DU87_HUMAN		18	1939	-			UPI0000073A3B	636					SNV	CASKIN1,missense_variant,p.Pro636Leu,ENST00000343516,NM_020764.3;TRAF7,downstream_gene_variant,,ENST00000326181,NM_032271.2;CASKIN1,downstream_gene_variant,,ENST00000564289,;	uc010bsg.1	c.1907C>T	2000/5756	2	2			c.1907C>T						16	SNP	c.(1906-1908)CCG>CTG	28	28			skin(2)	2	Broad	CASK interacting protein 1			2231462		0.657	ENSG00000167971	2617	g.chr16:2231462G>A	signal transduction	cytoplasm								13.665745	KEEP	5	3	-1	10	13	5	3	-1	14.801655	10	13	0.25	1	0	0	0	0	1	0	0	0	--	--		0	A				85	GBM-06-2562-TP	p.P636L	G	GGGCTCAGGCGGGGGCGGCGA	NM_020764	NP_065815	2231462	Q8WXD9	CSKI1_HUMAN	0			18	1939	-	A	A			Missense_Mutation	636						
CASKIN2	57513	broad.mit.edu	GRCh37	17	73498060	73498062	+	inframe_deletion	In_Frame_Del	DEL	GGA	GGA	-	rs150879399		TCGA-06-2559-01	TCGA-06-2559-01	GGA	GGA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321617.3:c.3093_3095del	p.Pro1032del	p.P1032del	ENST00000321617	NM_020753.4	1031	ccTCCa/cca	0			1			-	PP/P	uc002joc.2	protein_coding	YES	CCDS11723.1			3093-3095/3609									pancreas(1)	1	c.(3091-3096)CCTCCA>CCA			Low_complexity_(Seg):seg,hmmpanther:PTHR24177:SF3,hmmpanther:PTHR24177	cask-interacting protein 2 isoform a				ENSP00000325355		18/20									COSM2152690	18/20	.		ENST00000321617	Transcript				cytoplasm		ENSG00000177303	g.chr17:73498060_73498062delGGA	18200			MODERATE								--	--	1																																		CASKIN2_uc010wsc.1_In_Frame_Del_p.949_950PP>P	1	1			p.1031_1032PP>P	NM_020753	NP_065804			1	CSKI2_HUMAN	CASKIN2	HGNC	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		J3QKS3_HUMAN		18	3643_3645	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		UPI0000140BCB	1031_1032			Pro-rich.		deletion	CASKIN2,inframe_deletion,p.Pro1032del,ENST00000321617,NM_020753.4;CASKIN2,inframe_deletion,p.Pro950del,ENST00000433559,NM_001142643.2;KIAA0195,downstream_gene_variant,,ENST00000314256,NM_014738.4;KIAA0195,downstream_gene_variant,,ENST00000375248,;KIAA0195,downstream_gene_variant,,ENST00000579208,;CASKIN2,downstream_gene_variant,,ENST00000581870,;KIAA0195,downstream_gene_variant,,ENST00000577247,;KIAA0195,downstream_gene_variant,,ENST00000584694,;KIAA0195,downstream_gene_variant,,ENST00000577245,;KIAA0195,downstream_gene_variant,,ENST00000585105,;KIAA0195,downstream_gene_variant,,ENST00000581085,;KIAA0195,downstream_gene_variant,,ENST00000579898,;KIAA0195,downstream_gene_variant,,ENST00000581453,;CASKIN2,downstream_gene_variant,,ENST00000580021,;CASKIN2,downstream_gene_variant,,ENST00000583258,;KIAA0195,downstream_gene_variant,,ENST00000577194,;CASKIN2,downstream_gene_variant,,ENST00000583246,;	uc002joc.2	c.3093_3095delTCC	3680-3682/5015	5	5			c.3093_3095delTCC						17	DEL	c.(3091-3096)CCTCCA>CCA	10	10			pancreas(1)	1	Broad	cask-interacting protein 2 isoform a			73498062		0.69	ENSG00000177303	2618	g.chr17:73498060_73498062delGGA		cytoplasm																					0.37	1	1	0	1	0	0	0	0	0	--	--		0	-			CASKIN2_uc010wsc.1_In_Frame_Del_p.949_950PP>P	83	GBM-06-2559-TP	p.1031_1032PP>P	GGA	GCTAGAAGCTGGAGGAGACTCGC	NM_020753	NP_065804	73498060	Q8WXE0	CSKI2_HUMAN	0	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	3643_3645	-	-	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		In_Frame_Del	1031_1032			Pro-rich.			
CASKIN2	0	broad.mit.edu	GRCh37	17	73498864	73498864	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-12-5299-01	TCGA-12-5299-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321617.3:c.2291C>G	p.Ser764Cys	p.S764C	ENST00000321617	NM_020753.4	764	tCt/tGt	0			1			C	S/C	uc002joc.2	protein_coding	YES	CCDS11723.1			2291/3609									pancreas(1)	1	c.(2290-2292)TCT>TGT			Low_complexity_(Seg):seg,hmmpanther:PTHR24177:SF3,hmmpanther:PTHR24177	cask-interacting protein 2 isoform a				ENSP00000325355		18/20									COSM3403212	18/20	.		ENST00000321617	Transcript				cytoplasm		ENSG00000177303	g.chr17:73498864G>C	18200			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=CSKI2_HUMAN&rb=691&re=1007&var=S764C	NA	getma.org/?cm=var&var=hg19,17,73498864,G,C&fts=all	S764C	--	--	1																																		CASKIN2_uc010wsc.1_Missense_Mutation_p.S682C	1	1		benign(0.431)	p.S764C	NM_020753	NP_065804		tolerated(0.05)	1	CSKI2_HUMAN	CASKIN2	HGNC	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		J3QKS3_HUMAN		18	2841	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		UPI0000140BCB	764			Pro-rich.		SNV	CASKIN2,missense_variant,p.Ser764Cys,ENST00000321617,NM_020753.4;CASKIN2,missense_variant,p.Ser682Cys,ENST00000433559,NM_001142643.2;KIAA0195,downstream_gene_variant,,ENST00000314256,NM_014738.4;KIAA0195,downstream_gene_variant,,ENST00000375248,;KIAA0195,downstream_gene_variant,,ENST00000579208,;CASKIN2,downstream_gene_variant,,ENST00000581870,;KIAA0195,downstream_gene_variant,,ENST00000577247,;KIAA0195,downstream_gene_variant,,ENST00000584694,;KIAA0195,downstream_gene_variant,,ENST00000577245,;KIAA0195,downstream_gene_variant,,ENST00000585105,;KIAA0195,downstream_gene_variant,,ENST00000581085,;KIAA0195,downstream_gene_variant,,ENST00000579898,;KIAA0195,downstream_gene_variant,,ENST00000581453,;CASKIN2,downstream_gene_variant,,ENST00000580021,;CASKIN2,downstream_gene_variant,,ENST00000583258,;KIAA0195,downstream_gene_variant,,ENST00000577194,;CASKIN2,downstream_gene_variant,,ENST00000583246,;	uc002joc.2	c.2291C>G	2878/5015	3	3			c.2291C>G						17	SNP	c.(2290-2292)TCT>TGT	4	4			pancreas(1)	1	Broad	cask-interacting protein 2 isoform a			73498864		0.667	ENSG00000177303	2618	g.chr17:73498864G>C		cytoplasm								108.485125	KEEP	23	11	-1	22	21	23	11	-1	108.837534	22	21	0.426667	1	0	0	0	0	1	0	0	0	--	--		0	C			CASKIN2_uc010wsc.1_Missense_Mutation_p.S682C	130	GBM-12-5299-TP	p.S764C	G	GGCCGGGCTAGAGGGTGAGCC	NM_020753	NP_065804	73498864	Q8WXE0	CSKI2_HUMAN	0	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	2841	-	C	C	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		Missense_Mutation	764			Pro-rich.			
CASP1	834	broad.mit.edu	GRCh37	11	104900443	104900443	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0238-01	TCGA-06-0238-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000533400.1:c.811C>T	p.Pro271Ser	p.P271S	ENST00000533400	NM_001257118.1	271	Cca/Tca	0			1			A	P/S	uc010rve.1	protein_coding		CCDS8330.1			811/1215									ovary(2)	2	c.(811-813)CCA>TCA			Prints_domain:PR00376,Superfamily_domains:SSF52129,SMART_domains:SM00115,PIRSF_domain:PIRSF038001,Pfam_domain:PF00656,Gene3D:3.40.50.1460,hmmpanther:PTHR10454:SF34,hmmpanther:PTHR10454,PROSITE_profiles:PS50208	caspase 1 isoform alpha precursor	Minocycline(DB01017)|Penicillamine(DB00859)			ENSP00000410076		10-Jun									COSM2151087	10-Jun	.		ENST00000436863	Transcript			cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	ENSG00000137752	g.chr11:104900443G>A	1499			MODERATE		2.475	medium	getma.org/?cm=msa&ty=f&p=CASP1_HUMAN&rb=163&re=400&var=P271S	getma.org/pdb.php?prot=CASP1_HUMAN&from=163&to=400&var=P271S	getma.org/?cm=var&var=hg19,11,104900443,G,A&fts=all	P271S	--	--	1																																		CASP1_uc001pig.2_Missense_Mutation_p.P178S|CASP1_uc001pik.2_Missense_Mutation_p.P234S|CASP1_uc010rvf.1_Missense_Mutation_p.P178S|CASP1_uc010rvg.1_Missense_Mutation_p.P250S|CASP1_uc010rvh.1_Missense_Mutation_p.P178S|CASP1_uc010rvi.1_Intron|CASP1_uc001pim.3_Missense_Mutation_p.P271S|CASP1_uc009yxi.2_Missense_Mutation_p.P250S|CASP1_uc010rvj.1_Missense_Mutation_p.P271S|CASP1_uc009yxj.2_Missense_Mutation_p.P116S|CASP1_uc010rvk.1_Missense_Mutation_p.P232S	1			possibly_damaging(0.503)	p.P271S	NM_033292	NP_150634		tolerated(0.36)	1	CASP1_HUMAN	CASP1	HGNC	P29466	CASP1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)			6	828	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	UPI000003AEF8	271					SNV	CASP1,missense_variant,p.Pro271Ser,ENST00000533400,NM_001257118.1;CASP1,missense_variant,p.Pro234Ser,ENST00000527979,;CASP1,missense_variant,p.Pro271Ser,ENST00000436863,NM_033292.3;CASP1,missense_variant,p.Pro232Ser,ENST00000528974,;CASP1,missense_variant,p.Pro271Ser,ENST00000598974,;CASP1,missense_variant,p.Pro250Ser,ENST00000593315,;CASP1,missense_variant,p.Pro250Ser,ENST00000393136,NM_001223.4;CASP1,missense_variant,p.Pro250Ser,ENST00000525825,NM_001257119.1;CASP1,missense_variant,p.Pro178Ser,ENST00000526568,NM_033293.3;CASP1,missense_variant,p.Pro178Ser,ENST00000594519,;CASP1,missense_variant,p.Pro178Ser,ENST00000446369,NM_033294.3;CASP1,missense_variant,p.Pro178Ser,ENST00000534497,;CASP1,missense_variant,p.Pro120Ser,ENST00000532439,;CASP1,intron_variant,,ENST00000415981,;CASP1,intron_variant,,ENST00000353247,NM_033295.3;CASP1,intron_variant,,ENST00000531166,;CASP1,3_prime_UTR_variant,,ENST00000529871,;CASP1,downstream_gene_variant,,ENST00000526511,;CASP1,downstream_gene_variant,,ENST00000528424,;CASP1,downstream_gene_variant,,ENST00000532520,;CASP1,upstream_gene_variant,,ENST00000527625,;	uc010rve.1	c.811C>T	948/1477	2	2			c.811C>T						11	SNP	c.(811-813)CCA>TCA	43	43			ovary(2)	2	Broad	caspase 1 isoform alpha precursor		Minocycline(DB01017)|Penicillamine(DB00859)	104900443		0.448	ENSG00000137752	2619	g.chr11:104900443G>A	cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	NSCLC(41;1246 1743 4934)		268	NSCLC(41;1246 1743 4934)		268	47.044361	KEEP	12	9	-1	49	33	12	9	-1	54.609719	49	33	0.208333	1	0	0	0	0	1	0	0	0	--	--		0	A			CASP1_uc001pig.2_Missense_Mutation_p.P178S|CASP1_uc001pik.2_Missense_Mutation_p.P234S|CASP1_uc010rvf.1_Missense_Mutation_p.P178S|CASP1_uc010rvg.1_Missense_Mutation_p.P250S|CASP1_uc010rvh.1_Missense_Mutation_p.P178S|CASP1_uc010rvi.1_Intron|CASP1_uc001pim.3_Missense_Mutation_p.P271S|CASP1_uc009yxi.2_Missense_Mutation_p.P250S|CASP1_uc010rvj.1_Missense_Mutation_p.P271S|CASP1_uc009yxj.2_Missense_Mutation_p.P116S|CASP1_uc010rvk.1_Missense_Mutation_p.P232S	55	GBM-06-0238-TP	p.P271S	G	TTCAAACTTGGGCAGTTCTTG	NM_033292	NP_150634	104900443	P29466	CASP1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	6	828	-	A	A		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	Missense_Mutation	271						
CASP1	834		GRCh37	11	104899923	104899923	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000533400.1:c.934G>T	p.Glu312Ter	p.E312*	ENST00000533400	NM_001257118.1	312	Gag/Tag	0																																																																																																																																																																																																																																												
CASP10	843		GRCh37	2	202074219	202074219	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000286186.6:c.1349G>A	p.Arg450Gln	p.R450Q	ENST00000286186	NM_032977.3	450	cGg/cAg	0																																																																																																																																																																																																																																												
CASP14	0	broad.mit.edu	GRCh37	19	15164396	15164396	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-6193-01	TCGA-76-6193-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000427043.3:c.131G>T	p.Arg44Leu	p.R44L	ENST00000427043	NM_012114.2	44	cGg/cTg	0			1			T	R/L	uc010dzv.1	protein_coding	YES	CCDS12323.1			131/729									skin(2)|ovary(1)|lung(1)	4	c.(130-132)CGG>CTG			Prints_domain:PR00376,Superfamily_domains:SSF52129,SMART_domains:SM00115,Gene3D:3.40.50.1460,Pfam_domain:PF00656,hmmpanther:PTHR10454,hmmpanther:PTHR10454:SF131,PROSITE_profiles:PS50208	caspase 14 precursor				ENSP00000393417		7-Mar									COSM3403847	7-Mar	.		ENST00000427043	Transcript			apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity	ENSG00000105141	g.chr19:15164396G>T	1502			MODERATE		0.94	low	getma.org/?cm=msa&ty=f&p=CASPE_HUMAN&rb=18&re=241&var=R44L	getma.org/pdb.php?prot=CASPE_HUMAN&from=18&to=241&var=R44L	getma.org/?cm=var&var=hg19,19,15164396,G,T&fts=all	R44L	--	--	1																																		CASP14_uc002naf.2_Missense_Mutation_p.R44L	1	1		benign(0.087)	p.R44L	NM_012114	NP_036246		deleterious(0.02)	1	CASPE_HUMAN	CASP14	HGNC	P31944	CASPE_HUMAN			B2CIS9_HUMAN		3	439	+			UPI0000044176	44					SNV	CASP14,missense_variant,p.Arg44Leu,ENST00000427043,NM_012114.2;CASP14,missense_variant,p.Arg44Leu,ENST00000221740,;AC004699.1,downstream_gene_variant,,ENST00000411269,;CASP14,upstream_gene_variant,,ENST00000598738,;	uc010dzv.1	c.131G>T	439/3241	2	2			c.131G>T						19	SNP	c.(130-132)CGG>CTG	17	17			skin(2)|ovary(1)|lung(1)	4	Broad	caspase 14 precursor			15164396		0.527	ENSG00000105141	2621	g.chr19:15164396G>T	apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity							66.392739	KEEP	14	14	0.5	51	56	14	14	0.5	74.125056	51	56	0.22807	1	0	0	0	0	1	0	0	0	--	--		0	T			CASP14_uc002naf.2_Missense_Mutation_p.R44L	276	GBM-76-6193-TP	p.R44L	G	CACATGTTTCGGCAGCTGAGA	NM_012114	NP_036246	15164396	P31944	CASPE_HUMAN	0			3	439	+	T	T			Missense_Mutation	44						
CASP8AP2	0	broad.mit.edu	GRCh37	6	90577200	90577200	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A			TCGA-12-0821-01	TCGA-12-0821-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000551025.1:n.5628G>A		*1876*	ENST00000551025				0			1			A		uc003pnr.2	processed_transcript	YES													ovary(2)	2	c.(4189-4191)CCG>CCA				caspase 8 associated protein 2						9-Aug	2.48E-05		8.64E-05					0.000121	rs766939807,COSM3411335	9-Aug	.		ENST00000551025	Transcript			cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	ENSG00000118412	g.chr6:90577200G>A	1510			MODIFIER								--	--	1																																		CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Silent_p.P1397P|CASP8AP2_uc011dzz.1_Silent_p.P1397P	0,1	1			p.P1397P	NM_001137667	NP_001131139			0,1		CASP8AP2	HGNC	Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)			8	4387	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		1397					SNV	CASP8AP2,non_coding_transcript_exon_variant,,ENST00000551025,;CASP8AP2,non_coding_transcript_exon_variant,,ENST00000237177,;CASP8AP2,intron_variant,,ENST00000548224,;CASP8AP2,downstream_gene_variant,,ENST00000419040,;CASP8AP2,downstream_gene_variant,,ENST00000552401,;	uc003pnr.2	c.4191G>A	5628/7344	2	2			c.4191G>A						6	SNP	c.(4189-4191)CCG>CCA	35	35			ovary(2)	2	Broad	caspase 8 associated protein 2			90577200		0.393	ENSG00000118412	2629	g.chr6:90577200G>A	cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	Colon(187;1656 2025 17045 31481 39901)			Colon(187;1656 2025 17045 31481 39901)			284.527703	KEEP	76	25	-1	109	36	76	25	-1	285.578266	109	36	0.424528	1	0	0	0	0	0	0	1	0	--	--		0	A			CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Silent_p.P1397P|CASP8AP2_uc011dzz.1_Silent_p.P1397P	123	GBM-12-0821-TP	p.P1397P	G	TTTCATTGCCGGTTCATCCTG	NM_001137667	NP_001131139	90577200	Q9UKL3	C8AP2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.0953)	8	4387	+	A	A		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)	Silent	1397						
CASP8AP2	0	broad.mit.edu	GRCh37	6	90578080	90578080	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A			TCGA-14-1043-01	TCGA-14-1043-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000551025.1:n.6508G>A		*2170*	ENST00000551025				0			1			A		uc003pnr.2	processed_transcript	YES													ovary(2)	2	c.(5071-5073)GTC>ATC				caspase 8 associated protein 2						9-Aug									COSM3411336	9-Aug	.		ENST00000551025	Transcript			cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	ENSG00000118412	g.chr6:90578080G>A	1510			MODIFIER		1.87	low	getma.org/?cm=msa&ty=f&p=C8AP2_HUMAN&rb=808&re=1912&var=V1691I	NA	getma.org/?cm=var&var=hg19,6,90578080,G,A&fts=all	V1691I	--	--	1																																		CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.V1691I|CASP8AP2_uc011dzz.1_Missense_Mutation_p.V1691I	1	1			p.V1691I	NM_001137667	NP_001131139			1		CASP8AP2	HGNC	Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)			8	5267	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		1691					SNV	CASP8AP2,non_coding_transcript_exon_variant,,ENST00000551025,;CASP8AP2,non_coding_transcript_exon_variant,,ENST00000237177,;CASP8AP2,intron_variant,,ENST00000548224,;	uc003pnr.2	c.5071G>A	6508/7344	1	1			c.5071G>A						6	SNP	c.(5071-5073)GTC>ATC	64	64			ovary(2)	2	Broad	caspase 8 associated protein 2			90578080		0.388	ENSG00000118412	2629	g.chr6:90578080G>A	cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	Colon(187;1656 2025 17045 31481 39901)			Colon(187;1656 2025 17045 31481 39901)			16.271136	KEEP	6	2	-1	18	22	6	2	-1	20.458085	18	22	0.181818	1	0	0	0	0	1	0	0	0	--	--		0	A			CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.V1691I|CASP8AP2_uc011dzz.1_Missense_Mutation_p.V1691I	143	GBM-14-1043-TP	p.V1691I	G	GAAAGATCCAGTCACTGAAAC	NM_001137667	NP_001131139	90578080	Q9UKL3	C8AP2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.0953)	8	5267	+	A	A		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)	Missense_Mutation	1691						
CASP9	0	broad.mit.edu	GRCh37	1	15844698	15844698	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-4210-01	TCGA-32-4210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333868.5:c.325G>T	p.Val109Leu	p.V109L	ENST00000333868		109	Gtg/Ttg	0			1			A	V/L	uc001awn.2	protein_coding	YES	CCDS158.1			325/1251									central_nervous_system(1)|kidney(1)	2	c.(325-327)GTG>TTG			hmmpanther:PTHR10454,PIRSF_domain:PIRSF038001	caspase 9 isoform alpha preproprotein				ENSP00000330237		9-Feb									COSM3399841	9-Feb	.		ENST00000333868	Transcript			activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding	ENSG00000132906	g.chr1:15844698C>A	1511			MODERATE		1.65	low	getma.org/?cm=msa&ty=f&p=CASP9_HUMAN&rb=93&re=160&var=V109L	NA	getma.org/?cm=var&var=hg19,1,15844698,C,A&fts=all	V109L	--	--	1																																		CASP9_uc001awm.1_Missense_Mutation_p.V109L|CASP9_uc001awo.2_Missense_Mutation_p.V109L|CASP9_uc001awp.2_5'UTR|CASP9_uc009voi.2_Intron|CASP9_uc010obm.1_Missense_Mutation_p.V26L|CASP9_uc001awq.2_Missense_Mutation_p.V26L	1	1		possibly_damaging(0.72)	p.V109L	NM_001229	NP_001220		tolerated(0.14)	1	CASP9_HUMAN	CASP9	HGNC	P55211	CASP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)	Q5JRU2_HUMAN		2	420	-		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	UPI000012D14F	109					SNV	CASP9,missense_variant,p.Val109Leu,ENST00000546424,NM_001229.4;CASP9,missense_variant,p.Val109Leu,ENST00000333868,;CASP9,missense_variant,p.Val109Leu,ENST00000348549,NM_001278054.1;CASP9,missense_variant,p.Val26Leu,ENST00000375890,NM_032996.3;CASP9,missense_variant,p.Val26Leu,ENST00000447522,;CASP9,missense_variant,p.Val109Leu,ENST00000440484,;CASP9,non_coding_transcript_exon_variant,,ENST00000469637,;CASP9,missense_variant,p.Val107Leu,ENST00000400777,;CASP9,non_coding_transcript_exon_variant,,ENST00000546969,;CASP9,intron_variant,,ENST00000474305,;	uc001awn.2	c.325G>T	420/2019	2	2			c.325G>T						1	SNP	c.(325-327)GTG>TTG	30	30			central_nervous_system(1)|kidney(1)	2	Broad	caspase 9 isoform alpha preproprotein			15844698		0.517	ENSG00000132906	2630	g.chr1:15844698C>A	activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			893			893	-43.689	KEEP	2	2	0.5	97	106	2	2	0.5	6.843471	97	106	0.020408	1	0	0	0	0	1	0	0	0	--	--		0	A			CASP9_uc001awm.1_Missense_Mutation_p.V109L|CASP9_uc001awo.2_Missense_Mutation_p.V109L|CASP9_uc001awp.2_5'UTR|CASP9_uc009voi.2_Intron|CASP9_uc010obm.1_Missense_Mutation_p.V26L|CASP9_uc001awq.2_Missense_Mutation_p.V26L	245	GBM-32-4210-TP	p.V109L	C	CTGAGCACCACTGGGGTAAGG	NM_001229	NP_001220	15844698	P55211	CASP9_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)	2	420	-	A	A		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	109						
CASQ2	0	broad.mit.edu	GRCh37	1	116247851	116247851	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-14-4157-01	TCGA-14-4157-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261448.5:c.901C>G	p.Leu301Val	p.L301V	ENST00000261448	NM_001232.3	301	Ctg/Gtg	0			1			C	L/V	uc001efx.3	protein_coding	YES	CCDS884.1			901/1200									skin(1)	1	c.(901-903)CTG>GTG			hmmpanther:PTHR10033,hmmpanther:PTHR10033:SF7,Pfam_domain:PF01216,Gene3D:3.40.30.10,Superfamily_domains:SSF52833	cardiac calsequestrin 2 precursor				ENSP00000261448		11-Sep									COSM3399573	11-Sep	.		ENST00000261448	Transcript	1		heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	ENSG00000118729	g.chr1:116247851G>C	1513			MODERATE		2.865	medium	getma.org/?cm=msa&ty=f&p=CASQ2_HUMAN&rb=2&re=382&var=L301V	getma.org/pdb.php?prot=CASQ2_HUMAN&from=2&to=382&var=L301V	getma.org/?cm=var&var=hg19,1,116247851,G,C&fts=all	L301V	--	--	1																																		CASQ2_uc010owu.1_Missense_Mutation_p.L230V	1	1		possibly_damaging(0.809)	p.L301V	NM_001232	NP_001223		deleterious(0)	1	CASQ2_HUMAN	CASQ2	HGNC	O14958	CASQ2_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)			9	1165	-	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)	UPI0000126F16	301					SNV	CASQ2,missense_variant,p.Leu301Val,ENST00000261448,NM_001232.3;CASQ2,missense_variant,p.Leu230Val,ENST00000456138,;	uc001efx.3	c.901C>G	1141/2674	3	3			c.901C>G						1	SNP	c.(901-903)CTG>GTG	64	64			skin(1)	1	Broad	cardiac calsequestrin 2 precursor			116247851		0.547	ENSG00000118729	2632	g.chr1:116247851G>C	heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding							-20.320981	KEEP	2	3	-1	61	77	2	3	-1	11.051933	61	77	0.030769	1	0	0	0	0	1	0	0	0	--	--		0	C			CASQ2_uc010owu.1_Missense_Mutation_p.L230V	152	GBM-14-4157-TP	p.L301V	G	AGGATGCTCAGATCGGGGTTG	NM_001232	NP_001223	116247851	O14958	CASQ2_HUMAN	0		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	9	1165	-	C	C	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)	Missense_Mutation	301						
CASR	846	broad.mit.edu	GRCh37	3	121980530	121980530	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0749-01	TCGA-06-0749-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000498619.1:c.648C>T	p.Asp216=	p.D216=	ENST00000498619	NM_001178065.1	216	gaC/gaT	0			1			T	D	uc003eev.3	protein_coding		CCDS3010.1			648/3237									ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7	c.(646-648)GAC>GAT			hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF358,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822,Prints_domain:PR00248,Prints_domain:PR00592	calcium-sensing receptor precursor	Cinacalcet(DB01012)			ENSP00000418685		7-Apr	8.24E-06					1.50E-05			rs774470582,COSM1037085	7-Apr	.		ENST00000490131	Transcript	1		anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	ENSG00000036828	g.chr3:121980530C>T	1514			LOW								--	--	1																																		CASR_uc003eew.3_Silent_p.D216D	0,1				p.D216D	NM_000388	NP_000379			0,1	CASR_HUMAN	CASR	HGNC	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	Q2F3K6_HUMAN,Q2F3K5_HUMAN,Q2F3K4_HUMAN,Q2F3K3_HUMAN		4	1020	+			UPI000013E30B	216			Extracellular (Potential).		SNV	CASR,synonymous_variant,p.=,ENST00000498619,NM_001178065.1;CASR,synonymous_variant,p.=,ENST00000490131,NM_000388.3;CASR,synonymous_variant,p.=,ENST00000296154,;CASR,downstream_gene_variant,,ENST00000490186,;	uc003eev.3	c.648C>T	1020/3783	1	1			c.648C>T						3	SNP	c.(646-648)GAC>GAT	5	5			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7	Broad	calcium-sensing receptor precursor		Cinacalcet(DB01012)	121980530		0.537	ENSG00000036828	2633	g.chr3:121980530C>T	anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity							138.322048	KEEP	34	24	-1	99	83	34	24	-1	150.644264	99	83	0.251142	1	0	0	0	0	0	0	1	0	--	--		0	T			CASR_uc003eew.3_Silent_p.D216D	69	GBM-06-0749-TP	p.D216D	C	CAGCTGATGACGACTATGGGC	NM_000388	NP_000379	121980530	P41180	CASR_HUMAN	0		GBM - Glioblastoma multiforme(114;0.226)	4	1020	+	T	T			Silent	216			Extracellular (Potential).			
CASR	0	broad.mit.edu	GRCh37	3	121980782	121980782	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-0616-01	TCGA-12-0616-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000490131.1:c.900C>T	p.Ala300=	p.A300=	ENST00000490131	NM_000388.3	300	gcC/gcT	0			1			T	A	uc003eev.3	protein_coding		CCDS3010.1			900/3237									ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7	c.(898-900)GCC>GCT			Low_complexity_(Seg):seg,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF358,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822	calcium-sensing receptor precursor	Cinacalcet(DB01012)			ENSP00000418685		7-Apr									COSM2153541	7-Apr	.		ENST00000490131	Transcript	1		anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	ENSG00000036828	g.chr3:121980782C>T	1514			LOW								--	--	1																																		CASR_uc003eew.3_Silent_p.A300A	1				p.A300A	NM_000388	NP_000379			1	CASR_HUMAN	CASR	HGNC	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	Q2F3K6_HUMAN,Q2F3K5_HUMAN,Q2F3K4_HUMAN,Q2F3K3_HUMAN		4	1272	+			UPI000013E30B	300			Extracellular (Potential).		SNV	CASR,synonymous_variant,p.=,ENST00000498619,NM_001178065.1;CASR,synonymous_variant,p.=,ENST00000490131,NM_000388.3;CASR,synonymous_variant,p.=,ENST00000296154,;CASR,downstream_gene_variant,,ENST00000490186,;	uc003eev.3	c.900C>T	1272/3783	1	1			c.900C>T						3	SNP	c.(898-900)GCC>GCT	13	13			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7	Broad	calcium-sensing receptor precursor		Cinacalcet(DB01012)	121980782		0.602	ENSG00000036828	2633	g.chr3:121980782C>T	anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity							106.551435	KEEP	27	20	-1	45	44	27	20	-1	107.322606	45	44	0.402174	1	0	0	0	0	0	0	1	0	--	--		0	T			CASR_uc003eew.3_Silent_p.A300A	118	GBM-12-0616-TP	p.A300A	C	AGGCCTGGGCCAGCTCCTCCC	NM_000388	NP_000379	121980782	P41180	CASR_HUMAN	0		GBM - Glioblastoma multiforme(114;0.226)	4	1272	+	T	T			Silent	300			Extracellular (Potential).			
CASR	0	broad.mit.edu	GRCh37	3	122004023	122004023	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000490131.1:c.3222C>T	p.Asn1074=	p.N1074=	ENST00000490131	NM_000388.3	1074	aaC/aaT	0			1			T	N	uc003eev.3	protein_coding		CCDS3010.1			3222/3237									ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7	c.(3220-3222)AAC>AAT				calcium-sensing receptor precursor	Cinacalcet(DB01012)			ENSP00000418685		7-Jul									COSM3408180	7-Jul	.		ENST00000490131	Transcript	1		anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	ENSG00000036828	g.chr3:122004023C>T	1514			LOW								--	--	1																																		CASR_uc003eew.3_Silent_p.N1084N	1				p.N1074N	NM_000388	NP_000379			1	CASR_HUMAN	CASR	HGNC	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	Q2F3K6_HUMAN,Q2F3K5_HUMAN,Q2F3K4_HUMAN,Q2F3K3_HUMAN		7	3594	+			UPI000013E30B	1074			Cytoplasmic (Potential).		SNV	CASR,synonymous_variant,p.=,ENST00000498619,NM_001178065.1;CASR,synonymous_variant,p.=,ENST00000490131,NM_000388.3;CASR,synonymous_variant,p.=,ENST00000296154,;AC068754.1,downstream_gene_variant,,ENST00000408547,;	uc003eev.3	c.3222C>T	3594/3783	2	2			c.3222C>T						3	SNP	c.(3220-3222)AAC>AAT	48	48			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7	Broad	calcium-sensing receptor precursor		Cinacalcet(DB01012)	122004023		0.522	ENSG00000036828	2633	g.chr3:122004023C>T	anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity							187.703005	KEEP	43	26	-1	58	54	43	26	-1	189.683373	58	54	0.383234	1	0	0	0	0	0	0	1	0	--	--		0	T			CASR_uc003eew.3_Silent_p.N1084N	159	GBM-19-1390-TP	p.N1074N	C	TTACAGAAAACGTAGTGAATT	NM_000388	NP_000379	122004023	P41180	CASR_HUMAN	0		GBM - Glioblastoma multiforme(114;0.226)	7	3594	+	T	T			Silent	1074			Cytoplasmic (Potential).			
CASR	0	broad.mit.edu	GRCh37	3	122003194	122003194	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-4068-01	TCGA-19-4068-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000490131.1:c.2393C>T	p.Pro798Leu	p.P798L	ENST00000490131	NM_000388.3	798	cCg/cTg	0			1			T	P/L	uc003eev.3	protein_coding		CCDS3010.1			2393/3237									ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7	c.(2392-2394)CCG>CTG			PROSITE_profiles:PS50259,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF358,Pfam_domain:PF00003,Prints_domain:PR00248	calcium-sensing receptor precursor	Cinacalcet(DB01012)			ENSP00000418685		7-Jul									COSM3408177	7-Jul	.		ENST00000490131	Transcript	1		anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	ENSG00000036828	g.chr3:122003194C>T	1514			MODERATE		3.99	high	getma.org/?cm=msa&ty=f&p=CASR_HUMAN&rb=622&re=860&var=P798L	NA	getma.org/?cm=var&var=hg19,3,122003194,C,T&fts=all	P798L	--	--	1																																		CASR_uc003eew.3_Missense_Mutation_p.P808L	1			probably_damaging(1)	p.P798L	NM_000388	NP_000379		deleterious(0)	1	CASR_HUMAN	CASR	HGNC	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	Q2F3K6_HUMAN,Q2F3K5_HUMAN,Q2F3K4_HUMAN,Q2F3K3_HUMAN		7	2765	+			UPI000013E30B	798			Cytoplasmic (Potential).		SNV	CASR,missense_variant,p.Pro808Leu,ENST00000498619,NM_001178065.1;CASR,missense_variant,p.Pro798Leu,ENST00000490131,NM_000388.3;CASR,missense_variant,p.Pro798Leu,ENST00000296154,;AC068754.1,downstream_gene_variant,,ENST00000408547,;	uc003eev.3	c.2393C>T	2765/3783	2	2			c.2393C>T						3	SNP	c.(2392-2394)CCG>CTG	33	33			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7	Broad	calcium-sensing receptor precursor		Cinacalcet(DB01012)	122003194		0.552	ENSG00000036828	2633	g.chr3:122003194C>T	anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity							-13.618713	KEEP	1	5	-1	52	51	1	5	-1	9.549505	52	51	0.04717	1	0	0	0	0	1	0	0	0	--	--		0	T			CASR_uc003eew.3_Missense_Mutation_p.P808L	168	GBM-19-4068-TP	p.P798L	C	CGGAAGCTGCCGGAGAACTTC	NM_000388	NP_000379	122003194	P41180	CASR_HUMAN	0		GBM - Glioblastoma multiforme(114;0.226)	7	2765	+	T	T			Missense_Mutation	798			Cytoplasmic (Potential).			
CASR	0	broad.mit.edu	GRCh37	3	122003457	122003457	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5213-01	TCGA-28-5213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000490131.1:c.2656C>T	p.Arg886Trp	p.R886W	ENST00000490131	NM_000388.3	886	Cgg/Tgg	0			1			T	R/W	uc003eev.3	protein_coding		CCDS3010.1			2656/3237									ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7	c.(2656-2658)CGG>TGG			Prints_domain:PR00592	calcium-sensing receptor precursor	Cinacalcet(DB01012)			ENSP00000418685		7-Jul									CASRdb_c.2656C>T,COSM3408179	7-Jul	.		ENST00000490131	Transcript	1		anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	ENSG00000036828	g.chr3:122003457C>T	1514			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=CASR_HUMAN&rb=861&re=990&var=R886W	NA	getma.org/?cm=var&var=hg19,3,122003457,C,T&fts=all	R886W	--	--	1																																		CASR_uc003eew.3_Missense_Mutation_p.R896W	0,1			probably_damaging(0.951)	p.R886W	NM_000388	NP_000379		deleterious_low_confidence(0)	0,1	CASR_HUMAN	CASR	HGNC	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	Q2F3K6_HUMAN,Q2F3K5_HUMAN,Q2F3K4_HUMAN,Q2F3K3_HUMAN		7	3028	+			UPI000013E30B	886		R -> W (could be associated with FHH).	Cytoplasmic (Potential).|Interaction with RNF19A.		SNV	CASR,missense_variant,p.Arg896Trp,ENST00000498619,NM_001178065.1;CASR,missense_variant,p.Arg886Trp,ENST00000490131,NM_000388.3;CASR,missense_variant,p.Arg886Trp,ENST00000296154,;AC068754.1,downstream_gene_variant,,ENST00000408547,;	uc003eev.3	c.2656C>T	3028/3783	1	1			c.2656C>T						3	SNP	c.(2656-2658)CGG>TGG	7	7			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7	Broad	calcium-sensing receptor precursor		Cinacalcet(DB01012)	122003457		0.612	ENSG00000036828	2633	g.chr3:122003457C>T	anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity							57.49263	KEEP	14	8	-1	28	34	14	8	-1	60.471002	28	34	0.289474	1	0	0	0	0	1	0	0	0	--	--		0	T			CASR_uc003eew.3_Missense_Mutation_p.R896W	220	GBM-28-5213-TP	p.R886W	C	GGTGGCTGCCCGGGCCACGCT	NM_000388	NP_000379	122003457	P41180	CASR_HUMAN	0		GBM - Glioblastoma multiforme(114;0.226)	7	3028	+	T	T			Missense_Mutation	886		R -> W (could be associated with FHH).	Cytoplasmic (Potential).|Interaction with RNF19A.			
CASR	0	broad.mit.edu	GRCh37	3	121981197	121981197	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-41-2575-01	TCGA-41-2575-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000490131.1:c.1315C>A	p.Pro439Thr	p.P439T	ENST00000490131	NM_000388.3	439	Cct/Act	0			1			A	P/T	uc003eev.3	protein_coding		CCDS3010.1			1315/3237									ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7	c.(1315-1317)CCT>ACT			hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF358,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822	calcium-sensing receptor precursor	Cinacalcet(DB01012)			ENSP00000418685		7-Apr									COSM3408176	7-Apr	.		ENST00000490131	Transcript	1		anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	ENSG00000036828	g.chr3:121981197C>A	1514			MODERATE		1.6	low	getma.org/?cm=msa&ty=f&p=CASR_HUMAN&rb=69&re=495&var=P439T	getma.org/pdb.php?prot=CASR_HUMAN&from=69&to=495&var=P439T	getma.org/?cm=var&var=hg19,3,121981197,C,A&fts=all	P439T	--	--	1																																		CASR_uc003eew.3_Missense_Mutation_p.P439T	1			probably_damaging(0.973)	p.P439T	NM_000388	NP_000379		tolerated(0.08)	1	CASR_HUMAN	CASR	HGNC	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	Q2F3K6_HUMAN,Q2F3K5_HUMAN,Q2F3K4_HUMAN,Q2F3K3_HUMAN		4	1687	+			UPI000013E30B	439			Extracellular (Potential).		SNV	CASR,missense_variant,p.Pro439Thr,ENST00000498619,NM_001178065.1;CASR,missense_variant,p.Pro439Thr,ENST00000490131,NM_000388.3;CASR,missense_variant,p.Pro439Thr,ENST00000296154,;CASR,downstream_gene_variant,,ENST00000490186,;	uc003eev.3	c.1315C>A	1687/3783	2	2			c.1315C>A						3	SNP	c.(1315-1317)CCT>ACT	45	45			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7	Broad	calcium-sensing receptor precursor		Cinacalcet(DB01012)	121981197		0.453	ENSG00000036828	2633	g.chr3:121981197C>A	anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity							222.125152	KEEP	44	35	0.443037975	59	49	44	35	0.443037975	223.190103	59	49	0.415205	1	0	0	0	0	1	0	0	0	--	--		0	A			CASR_uc003eew.3_Missense_Mutation_p.P439T	253	GBM-41-2575-TP	p.P439T	C	TACCTGCTTACCTGGGAGAGG	NM_000388	NP_000379	121981197	P41180	CASR_HUMAN	0		GBM - Glioblastoma multiforme(114;0.226)	4	1687	+	A	A			Missense_Mutation	439			Extracellular (Potential).			
CASS4	57091	broad.mit.edu	GRCh37	20	55027872	55027872	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0645-01	TCGA-06-0645-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371336.3:c.1640T>C	p.Leu547Pro	p.L547P	ENST00000371336	NM_001164114.1	547	cTt/cCt	0			1			C	L/P	uc002xxp.2	protein_coding		CCDS33492.1			1640/2361									ovary(2)|skin(1)	3	c.(1639-1641)CTT>CCT			hmmpanther:PTHR10654:SF12,hmmpanther:PTHR10654,Pfam_domain:PF08824	HEF-like protein isoform a				ENSP00000353462		7-Jun									COSM2151262	7-Jun	.		ENST00000360314	Transcript			cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	ENSG00000087589	g.chr20:55027872T>C	15878			MODERATE		2.725	medium	getma.org/?cm=msa&ty=f&p=CASS4_HUMAN&rb=435&re=593&var=L547P	getma.org/pdb.php?prot=CASS4_HUMAN&from=435&to=593&var=L547P	getma.org/?cm=var&var=hg19,20,55027872,T,C&fts=all	L547P	--	--	1																																		CASS4_uc002xxq.3_Missense_Mutation_p.L547P|CASS4_uc002xxr.2_Missense_Mutation_p.L547P|CASS4_uc010zze.1_Missense_Mutation_p.L493P|CASS4_uc010gio.2_Intron	1			probably_damaging(1)	p.L547P	NM_001164116	NP_001157588		deleterious(0)	1	CASS4_HUMAN	CASS4	HGNC	Q9NQ75	CASS4_HUMAN					6	1865	+			UPI00001285DB	547					SNV	CASS4,missense_variant,p.Leu547Pro,ENST00000371336,NM_001164114.1,NM_020356.3;CASS4,missense_variant,p.Leu547Pro,ENST00000360314,NM_001164116.1;CASS4,intron_variant,,ENST00000434344,NM_001164115.1;CASS4,non_coding_transcript_exon_variant,,ENST00000497244,;	uc002xxp.2	c.1640T>C	1865/2619	3	3			c.1640T>C						20	SNP	c.(1639-1641)CTT>CCT	13	13			ovary(2)|skin(1)	3	Broad	HEF-like protein isoform a			55027872		0.493	ENSG00000087589	2634	g.chr20:55027872T>C	cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity							185.389873	KEEP	31	31	-1	39	30	31	31	-1	185.659806	39	30	0.448276	1	0	0	0	0	1	0	0	0	--	--		0	C			CASS4_uc002xxq.3_Missense_Mutation_p.L547P|CASS4_uc002xxr.2_Missense_Mutation_p.L547P|CASS4_uc010zze.1_Missense_Mutation_p.L493P|CASS4_uc010gio.2_Intron	59	GBM-06-0645-TP	p.L547P	T	CTGGAAGTTCTTGTGACTGAC	NM_001164116	NP_001157588	55027872	Q9NQ75	CASS4_HUMAN	0			6	1865	+	C	C			Missense_Mutation	547						
CASS4	0	broad.mit.edu	GRCh37	20	55021057	55021057	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A			TCGA-06-6391-01	TCGA-06-6391-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360314.3:c.561G>A	p.Lys187=	p.K187=	ENST00000360314	NM_001164116.1	187	aaG/aaA	0			1			A	K	uc002xxp.2	protein_coding		CCDS33492.1			561/2361									ovary(2)|skin(1)	3	c.(559-561)AAG>AAA			hmmpanther:PTHR10654:SF12,hmmpanther:PTHR10654	HEF-like protein isoform a				ENSP00000353462		7-Apr										7-Apr	.		ENST00000360314	Transcript			cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	ENSG00000087589	g.chr20:55021057G>A	15878			LOW								--	--	1																																		CASS4_uc002xxq.3_Silent_p.K187K|CASS4_uc002xxr.2_Silent_p.K187K|CASS4_uc010zze.1_Silent_p.K133K|CASS4_uc010gio.2_Silent_p.K187K					p.K187K	NM_001164116	NP_001157588				CASS4_HUMAN	CASS4	HGNC	Q9NQ75	CASS4_HUMAN					4	786	+			UPI00001285DB	187					SNV	CASS4,splice_region_variant,p.=,ENST00000371336,NM_001164114.1,NM_020356.3;CASS4,splice_region_variant,p.=,ENST00000360314,NM_001164116.1;CASS4,splice_region_variant,p.=,ENST00000434344,NM_001164115.1;CASS4,splice_region_variant,,ENST00000497244,;	uc002xxp.2	c.561G>A	786/2619	1	1			c.561G>A						20	SNP	c.(559-561)AAG>AAA	54	54			ovary(2)|skin(1)	3	Broad	HEF-like protein isoform a			55021057		0.622	ENSG00000087589	2634	g.chr20:55021057G>A	cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity							4.354676	KEEP	1	3	-1	9	22	1	3	-1	8.331584	9	22	0.133333	1	0	0	0	0	0	0	1	0	--	--		0	A			CASS4_uc002xxq.3_Silent_p.K187K|CASS4_uc002xxr.2_Silent_p.K187K|CASS4_uc010zze.1_Silent_p.K133K|CASS4_uc010gio.2_Silent_p.K187K	107	GBM-06-6391-TP	p.K187K	G	TGGTCCTGAAGGTGAGCCTTG	NM_001164116	NP_001157588	55021057	Q9NQ75	CASS4_HUMAN	0			4	786	+	A	A			Silent	187						
CASZ1	54897	broad.mit.edu	GRCh37	1	10713867	10713867	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5412-01	TCGA-06-5412-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377022.3:c.2247G>A	p.Ala749=	p.A749=	ENST00000377022	NM_001079843.2	749	gcG/gcA	0			1			T	A	uc001aro.2	protein_coding	YES	CCDS41246.1			2247/5280									skin(1)	1	c.(2245-2247)GCG>GCA			Low_complexity_(Seg):seg,hmmpanther:PTHR12451	castor homolog 1, zinc finger isoform a				ENSP00000366221		21-Nov	0.000214	0.000104	8.77E-05					0.00153	rs754565740,COSM3399506	21-Nov	common_variant		ENST00000377022	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	ENSG00000130940	g.chr1:10713867C>T	26002			LOW								--	--	1																																		CASZ1_uc001arp.1_Silent_p.A749A|CASZ1_uc009vmx.2_Silent_p.A773A	0,1	1			p.A749A	NM_001079843	NP_001073312			0,1	CASZ1_HUMAN	CASZ1	HGNC	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)			11	2567	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	UPI0000EBB7D6	749					SNV	CASZ1,synonymous_variant,p.=,ENST00000377022,NM_001079843.2;CASZ1,synonymous_variant,p.=,ENST00000344008,NM_017766.4;RP4-734G22.3,non_coding_transcript_exon_variant,,ENST00000606802,;CASZ1,non_coding_transcript_exon_variant,,ENST00000496432,;CASZ1,downstream_gene_variant,,ENST00000492173,;CASZ1,upstream_gene_variant,,ENST00000490176,;	uc001aro.2	c.2247G>A	2565/7936	2	2			c.2247G>A						1	SNP	c.(2245-2247)GCG>GCA	36	36			skin(1)	1	Broad	castor homolog 1, zinc finger isoform a			10713867		0.667	ENSG00000130940	2636	g.chr1:10713867C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding							4.771534	KEEP	7	11	-1	75	62	7	11	-1	25.607469	75	62	0.1	1	0	0	0	0	0	0	1	0	--	--		0	T			CASZ1_uc001arp.1_Silent_p.A749A|CASZ1_uc009vmx.2_Silent_p.A773A	95	GBM-06-5412-TP	p.A749A	C	CAGCCAGGGACGCAGAGGACT	NM_001079843	NP_001073312	10713867	Q86V15	CASZ1_HUMAN	0	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	11	2567	-	T	T	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	Silent	749						
CASZ1	0	broad.mit.edu	GRCh37	1	10702922	10702922	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01	TCGA-32-2491-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377022.3:c.4156G>A	p.Ala1386Thr	p.A1386T	ENST00000377022	NM_001079843.2	1386	Gcg/Acg	0	T:0		1			T	A/T	uc001aro.2	protein_coding	YES	CCDS41246.1			4156/5280									skin(1)	1	c.(4156-4158)GCG>ACG			hmmpanther:PTHR12451	castor homolog 1, zinc finger isoform a			T:0.0002	ENSP00000366221		20/21	1.65E-05		8.93E-05			1.62E-05			rs373145502,COSM3399505	20/21	.		ENST00000377022	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	ENSG00000130940	g.chr1:10702922C>T	26002			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=CASZ1_HUMAN&rb=1201&re=1400&var=A1386T	NA	getma.org/?cm=var&var=hg19,1,10702922,C,T&fts=all	A1386T	--	--	1																																			0,1	1		possibly_damaging(0.491)	p.A1386T	NM_001079843	NP_001073312		deleterious_low_confidence(0.05)	0,1	CASZ1_HUMAN	CASZ1	HGNC	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)			20	4476	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	UPI0000EBB7D6	1386					SNV	CASZ1,missense_variant,p.Ala1386Thr,ENST00000377022,NM_001079843.2;CASZ1,missense_variant,p.Ala150Thr,ENST00000447850,;CASZ1,downstream_gene_variant,,ENST00000344008,NM_017766.4;RP4-734G22.3,intron_variant,,ENST00000606802,;CASZ1,upstream_gene_variant,,ENST00000478524,;	uc001aro.2	c.4156G>A	4474/7936	2	2			c.4156G>A						1	SNP	c.(4156-4158)GCG>ACG	48	48			skin(1)	1	Broad	castor homolog 1, zinc finger isoform a			10702922		0.687	ENSG00000130940	2636	g.chr1:10702922C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding							7.007348	KEEP	5	3	-1	22	15	5	3	-1	10.195393	22	15	0.148148	1	0	0	0	0	1	0	0	0	--	--		0	T				235	GBM-32-2491-TP	p.A1386T	C	TCACCTGCCGCGGTGCTCTCG	NM_001079843	NP_001073312	10702922	Q86V15	CASZ1_HUMAN	0	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	20	4476	-	T	T	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	1386						
CASZ1	0	broad.mit.edu	GRCh37	1	10699777	10699777	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377022.3:c.4502G>A	p.Cys1501Tyr	p.C1501Y	ENST00000377022	NM_001079843.2	1501	tGc/tAc	0			1			T	C/Y	uc001aro.2	protein_coding	YES	CCDS41246.1			4502/5280									skin(1)	1	c.(4501-4503)TGC>TAC			hmmpanther:PTHR12451	castor homolog 1, zinc finger isoform a				ENSP00000366221		21/21									COSM3399504	21/21	.		ENST00000377022	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	ENSG00000130940	g.chr1:10699777C>T	26002			MODERATE		2.08	medium	getma.org/?cm=msa&ty=f&p=CASZ1_HUMAN&rb=1401&re=1600&var=C1501Y	NA	getma.org/?cm=var&var=hg19,1,10699777,C,T&fts=all	C1501Y	--	--	1																																			1	1		probably_damaging(1)	p.C1501Y	NM_001079843	NP_001073312		deleterious(0)	1	CASZ1_HUMAN	CASZ1	HGNC	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)			21	4822	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	UPI0000EBB7D6	1501	C -> R (in Ref. 2; ABB29845).				SNV	CASZ1,missense_variant,p.Cys1501Tyr,ENST00000377022,NM_001079843.2;CASZ1,downstream_gene_variant,,ENST00000447850,;RP4-734G22.3,non_coding_transcript_exon_variant,,ENST00000606802,;CASZ1,upstream_gene_variant,,ENST00000478524,;	uc001aro.2	c.4502G>A	4820/7936	2	2			c.4502G>A						1	SNP	c.(4501-4503)TGC>TAC	24	24			skin(1)	1	Broad	castor homolog 1, zinc finger isoform a			10699777		0.657	ENSG00000130940	2636	g.chr1:10699777C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding							20.825547	KEEP	5	4	-1	1	6	5	4	-1	20.898049	1	6	0.583333	1	0	0	0	0	1	0	0	0	--	--		0	T				265	GBM-76-4925-TP	p.C1501Y	C	GGCGAAGTGGCAGCTGAGTGA	NM_001079843	NP_001073312	10699777	Q86V15	CASZ1_HUMAN	0	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	21	4822	-	T	T	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	1501	C -> R (in Ref. 2; ABB29845).					
CATSPER4	0	broad.mit.edu	GRCh37	1	26524560	26524560	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-14-1456-01	TCGA-14-1456-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000456354.2:c.670T>G	p.Phe224Val	p.F224V	ENST00000456354	NM_198137.1	224	Ttc/Gtc	0			1			G	F/V	uc010oez.1	protein_coding	YES	CCDS30645.1			670/1419									ovary(1)	1	c.(670-672)TTC>GTC			Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF199,Pfam_domain:PF00520,Superfamily_domains:SSF81324	cation channel, sperm associated 4				ENSP00000390423		10-May									COSM3400638	10-May	.		ENST00000456354	Transcript			cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	ENSG00000188782	g.chr1:26524560T>G	23220			MODERATE		1.175	low	getma.org/?cm=msa&ty=f&p=CTSR4_HUMAN&rb=127&re=306&var=F224V	getma.org/pdb.php?prot=CTSR4_HUMAN&from=127&to=306&var=F224V	getma.org/?cm=var&var=hg19,1,26524560,T,G&fts=all	F224V	--	--	1																																		CATSPER4_uc010oey.1_Missense_Mutation_p.F46V|CATSPER4_uc009vsf.2_RNA	1	1		benign(0.219)	p.F224V	NM_198137	NP_937770		tolerated(0.19)	1	CTSR4_HUMAN	CATSPER4	HGNC	Q7RTX7	CTSR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)			5	670	+		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	UPI00001D9648	224			Helical; Name=Segment S5; (Potential).		SNV	CATSPER4,missense_variant,p.Phe224Val,ENST00000456354,NM_198137.1;CATSPER4,missense_variant,p.Phe224Val,ENST00000338855,;CATSPER4,missense_variant,p.Phe224Val,ENST00000518899,;	uc010oez.1	c.670T>G	737/1912	4	4			c.670T>G						1	SNP	c.(670-672)TTC>GTC	18	18			ovary(1)	1	Broad	cation channel, sperm associated 4			26524560		0.597	ENSG00000188782	2641	g.chr1:26524560T>G	cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity							0.905577	KEEP	20	22	-1	201	236	20	22	-1	74.682363	201	236	0.080488	1	0	0	0	0	1	0	0	0	--	--		0	G			CATSPER4_uc010oey.1_Missense_Mutation_p.F46V|CATSPER4_uc009vsf.2_RNA	146	GBM-14-1456-TP	p.F224V	T	CATCCTCTTCTTCATGCTGGT	NM_198137	NP_937770	26524560	Q7RTX7	CTSR4_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)	5	670	+	G	G		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	Missense_Mutation	224			Helical; Name=Segment S5; (Potential).			
CATSPERD	257062	broad.mit.edu	GRCh37	19	5778542	5778542	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0169-01	TCGA-06-0169-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381624.3:c.2252G>A	p.Arg751His	p.R751H	ENST00000381624	NM_152784.3	751	cGc/cAc	0			1			A	R/H	uc002mda.2	protein_coding	YES	CCDS12149.2			2252/2397									ovary(1)|central_nervous_system(1)|pancreas(1)	3	c.(2251-2253)CGC>CAC			Pfam_domain:PF15020	transmembrane protein 146 precursor				ENSP00000371037		22/22	8.26E-06					1.51E-05			rs757541319,COSM1395841	22/22	.		ENST00000381624	Transcript				integral to membrane		ENSG00000174898	g.chr19:5778542G>A	28598			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=CTSRD_HUMAN&rb=601&re=798&var=R751H	NA	getma.org/?cm=var&var=hg19,19,5778542,G,A&fts=all	R751H	--	--	1																																			0,1	1		possibly_damaging(0.694)	p.R751H	NM_152784	NP_689997		tolerated(0.2)	0,1	CTSRD_HUMAN	CATSPERD	HGNC	Q86XM0	TM146_HUMAN					22	2313	+			UPI000059D641	751			Cytoplasmic (Potential).		SNV	CATSPERD,missense_variant,p.Arg751His,ENST00000381624,NM_152784.3;PRR22,downstream_gene_variant,,ENST00000390672,;PRR22,downstream_gene_variant,,ENST00000419421,NM_001134316.1;CATSPERD,non_coding_transcript_exon_variant,,ENST00000309164,;CATSPERD,downstream_gene_variant,,ENST00000448307,;	uc002mda.2	c.2252G>A	2313/2516	2	2			c.2252G>A						19	SNP	c.(2251-2253)CGC>CAC	48	48			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Broad	transmembrane protein 146 precursor			5778542		0.612	ENSG00000174898	15812	g.chr19:5778542G>A		integral to membrane								66.234495	KEEP	15	11	-1	36	38	15	11	-1	70.283495	36	38	0.27957	1	0	0	0	0	1	0	0	0	--	--		0	A				34	GBM-06-0169-TP	p.R751H	G	CGCACAGCACGCGGCCGCAGG	NM_152784	NP_689997	5778542	Q86XM0	TM146_HUMAN	0			22	2313	+	A	A			Missense_Mutation	751			Cytoplasmic (Potential).			
CATSPERD	257062	broad.mit.edu	GRCh37	19	5748191	5748191	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01	TCGA-06-0939-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381624.3:c.829C>T	p.Arg277Trp	p.R277W	ENST00000381624	NM_152784.3	277	Cgg/Tgg	0	T:0	T:0	1	T:0		T	R/W	uc002mda.2	protein_coding	YES	CCDS12149.2			829/2397									ovary(1)|central_nervous_system(1)|pancreas(1)	3	c.(829-831)CGG>TGG			Pfam_domain:PF15020	transmembrane protein 146 precursor		T:0.001	T:0.0001	ENSP00000371037	T:0	22-Oct	8.27E-06					1.50E-05			rs367967767,COSM357853	22-Oct	.		ENST00000381624	Transcript		T:0.0002		integral to membrane		ENSG00000174898	g.chr19:5748191C>T	28598			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=CTSRD_HUMAN&rb=201&re=400&var=R277W	NA	getma.org/?cm=var&var=hg19,19,5748191,C,T&fts=all	R277W	--	--	1																																		TMEM146_uc010duj.1_5'UTR	0,1	1		benign(0.01)	p.R277W	NM_152784	NP_689997	T:0	tolerated(0.15)	0,1	CTSRD_HUMAN	CATSPERD	HGNC	Q86XM0	TM146_HUMAN					10	890	+			UPI000059D641	277			Extracellular (Potential).		SNV	CATSPERD,missense_variant,p.Arg277Trp,ENST00000381624,NM_152784.3;CATSPERD,5_prime_UTR_variant,,ENST00000381614,;	uc002mda.2	c.829C>T	890/2516	1	1			c.829C>T						19	SNP	c.(829-831)CGG>TGG	12	12			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Broad	transmembrane protein 146 precursor			5748191		0.542	ENSG00000174898	15812	g.chr19:5748191C>T		integral to membrane								112.344485	KEEP	17	28	-1	60	71	17	28	-1	119.547952	60	71	0.268456	1	0	0	0	0	1	0	0	0	--	--		0	T			TMEM146_uc010duj.1_5'UTR	78	GBM-06-0939-TP	p.R277W	C	CGACACCGTCCGGGTGAAAAA	NM_152784	NP_689997	5748191	Q86XM0	TM146_HUMAN	0			10	890	+	T	T			Missense_Mutation	277			Extracellular (Potential).			
CATSPERD	0	broad.mit.edu	GRCh37	19	5776309	5776309	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-2509-01	TCGA-28-2509-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381624.3:c.2079C>T	p.Ile693=	p.I693=	ENST00000381624	NM_152784.3	693	atC/atT	0			1			T	I	uc002mda.2	protein_coding	YES	CCDS12149.2			2079/2397									ovary(1)|central_nervous_system(1)|pancreas(1)	3	c.(2077-2079)ATC>ATT			Pfam_domain:PF15020	transmembrane protein 146 precursor				ENSP00000371037		21/22									COSM3404702	21/22	.		ENST00000381624	Transcript				integral to membrane		ENSG00000174898	g.chr19:5776309C>T	28598			LOW								--	--	1																																			1	1			p.I693I	NM_152784	NP_689997			1	CTSRD_HUMAN	CATSPERD	HGNC	Q86XM0	TM146_HUMAN					21	2140	+			UPI000059D641	693			Extracellular (Potential).		SNV	CATSPERD,synonymous_variant,p.=,ENST00000381624,NM_152784.3;CATSPERD,downstream_gene_variant,,ENST00000381614,;CATSPERD,non_coding_transcript_exon_variant,,ENST00000309164,;CATSPERD,non_coding_transcript_exon_variant,,ENST00000448307,;	uc002mda.2	c.2079C>T	2140/2516	2	2			c.2079C>T						19	SNP	c.(2077-2079)ATC>ATT	47	47			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Broad	transmembrane protein 146 precursor			5776309		0.582	ENSG00000174898	15812	g.chr19:5776309C>T		integral to membrane								111.359166	KEEP	14	24	-1	13	15	14	24	-1	111.592111	13	15	0.566667	1	0	0	0	0	0	0	1	0	--	--		0	T				211	GBM-28-2509-TP	p.I693I	C	ACATTTCGATCGTGGATCCGT	NM_152784	NP_689997	5776309	Q86XM0	TM146_HUMAN	0			21	2140	+	T	T			Silent	693			Extracellular (Potential).			
CATSPERG	57828	broad.mit.edu	GRCh37	19	38861189	38861189	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409235.3:c.3237C>T	p.Gly1079=	p.G1079=	ENST00000409235	NM_021185.4	1079	ggC/ggT	0			1			T	G	uc002oih.3	protein_coding	YES	CCDS12514.2			3237/3480									ovary(1)|skin(1)	2	c.(3235-3237)GGC>GGT			hmmpanther:PTHR14327,Transmembrane_helices:TMhelix	cation channel, sperm-associated, gamma				ENSP00000386962		29/29									COSM3404183,COSM3404182	29/29	.		ENST00000409235	Transcript			cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		ENSG00000099338	g.chr19:38861189C>T	25243			LOW								--	--	1																																		CATSPERG_uc002oig.3_Silent_p.G1039G|CATSPERG_uc002oif.3_Silent_p.G719G|CATSPERG_uc010efw.2_RNA	1,1	1			p.G1079G	NM_021185	NP_067008			1,1	CTSRG_HUMAN	CATSPERG	HGNC	Q6ZRH7	CTSRG_HUMAN			Q32MQ2_HUMAN		29	3324	+			UPI000022A813	1079			Helical; (Potential).		SNV	CATSPERG,synonymous_variant,p.=,ENST00000409235,NM_021185.4;CATSPERG,synonymous_variant,p.=,ENST00000410018,;CATSPERG,3_prime_UTR_variant,,ENST00000215069,;PSMD8,upstream_gene_variant,,ENST00000592035,;PSMD8,upstream_gene_variant,,ENST00000215071,NM_002812.4;PSMD8,upstream_gene_variant,,ENST00000602911,;PSMD8,upstream_gene_variant,,ENST00000592561,;PSMD8,upstream_gene_variant,,ENST00000591250,;PSMD8,upstream_gene_variant,,ENST00000585598,;CATSPERG,3_prime_UTR_variant,,ENST00000471517,;CATSPERG,3_prime_UTR_variant,,ENST00000312265,;CATSPERG,3_prime_UTR_variant,,ENST00000412458,;CATSPERG,non_coding_transcript_exon_variant,,ENST00000492088,;PSMD8,upstream_gene_variant,,ENST00000592001,;PSMD8,upstream_gene_variant,,ENST00000591216,;	uc002oih.3	c.3237C>T	3352/3746	2	2			c.3237C>T						19	SNP	c.(3235-3237)GGC>GGT	29	29			ovary(1)|skin(1)	2	Broad	cation channel, sperm-associated, gamma			38861189		0.522	ENSG00000099338	2643	g.chr19:38861189C>T	cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane								20.244254	KEEP	9	12	-1	76	45	9	12	-1	36.154406	76	45	0.145038	1	0	0	0	0	0	0	1	0	--	--		0	T			CATSPERG_uc002oig.3_Silent_p.G1039G|CATSPERG_uc002oif.3_Silent_p.G719G|CATSPERG_uc010efw.2_RNA	62	GBM-06-0649-TP	p.G1079G	C	TGTTTGTGGGCCTGGTGATCT	NM_021185	NP_067008	38861189	Q6ZRH7	CTSRG_HUMAN	0			29	3324	+	T	T			Silent	1079			Helical; (Potential).			
CATSPERG	57828	broad.mit.edu	GRCh37	19	38851477	38851477	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01	TCGA-06-0939-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409235.3:c.1874G>A	p.Arg625Gln	p.R625Q	ENST00000409235	NM_021185.4	625	cGg/cAg	0		A:0	1	A:0		A	R/Q	uc002oih.3	protein_coding	YES	CCDS12514.2			1874/3480									ovary(1)|skin(1)	2	c.(1873-1875)CGG>CAG			Pfam_domain:PF15064,hmmpanther:PTHR14327	cation channel, sperm-associated, gamma		A:0.001		ENSP00000386962	A:0	16/29	3.30E-05		0.000143			4.41E-05		7.60E-05	rs535055326,COSM3404181,COSM3404180	16/29	.		ENST00000409235	Transcript		A:0.0002	cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		ENSG00000099338	g.chr19:38851477G>A	25243			MODERATE		0.51	neutral	getma.org/?cm=msa&ty=f&p=CTSRG_HUMAN&rb=12&re=929&var=R625Q	NA	getma.org/?cm=var&var=hg19,19,38851477,G,A&fts=all	R625Q	--	--	1																																		CATSPERG_uc002oig.3_Missense_Mutation_p.R585Q|CATSPERG_uc002oif.3_Missense_Mutation_p.R265Q|CATSPERG_uc010efw.2_RNA	0,1,1	1		benign(0.417)	p.R625Q	NM_021185	NP_067008	A:0	tolerated(0.72)	0,1,1	CTSRG_HUMAN	CATSPERG	HGNC	Q6ZRH7	CTSRG_HUMAN			Q32MQ2_HUMAN		16	1961	+			UPI000022A813	625			Extracellular (Potential).		SNV	CATSPERG,missense_variant,p.Arg625Gln,ENST00000409235,NM_021185.4;CATSPERG,missense_variant,p.Arg585Gln,ENST00000410018,;CATSPERG,missense_variant,p.Arg625Gln,ENST00000409410,;CATSPERG,3_prime_UTR_variant,,ENST00000215069,;CATSPERG,downstream_gene_variant,,ENST00000489693,;AC005625.1,downstream_gene_variant,,ENST00000590304,;CATSPERG,downstream_gene_variant,,ENST00000466060,;CATSPERG,3_prime_UTR_variant,,ENST00000471517,;CATSPERG,3_prime_UTR_variant,,ENST00000312265,;CATSPERG,3_prime_UTR_variant,,ENST00000412458,;CATSPERG,upstream_gene_variant,,ENST00000492088,;CATSPERG,downstream_gene_variant,,ENST00000470292,;CATSPERG,downstream_gene_variant,,ENST00000585424,;	uc002oih.3	c.1874G>A	1989/3746	2	2			c.1874G>A						19	SNP	c.(1873-1875)CGG>CAG	29	29			ovary(1)|skin(1)	2	Broad	cation channel, sperm-associated, gamma			38851477		0.403	ENSG00000099338	2643	g.chr19:38851477G>A	cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane								14.00134	KEEP	4	3	-1	2	2	4	3	-1	14.032559	2	2	0.571429	1	0	0	0	0	1	0	0	0	--	--		0	A			CATSPERG_uc002oig.3_Missense_Mutation_p.R585Q|CATSPERG_uc002oif.3_Missense_Mutation_p.R265Q|CATSPERG_uc010efw.2_RNA	78	GBM-06-0939-TP	p.R625Q	G	GACTTGGAGCGGAAAGGGTGA	NM_021185	NP_067008	38851477	Q6ZRH7	CTSRG_HUMAN	0			16	1961	+	A	A			Missense_Mutation	625			Extracellular (Potential).			
CAV3	0	broad.mit.edu	GRCh37	3	8787341	8787341	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs112626848		TCGA-12-3652-01	TCGA-12-3652-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343849.2:c.244G>A	p.Val82Ile	p.V82I	ENST00000343849	NM_001234.4	82	Gtc/Atc	0		A:0.0008	1	A:0		A	V/I	uc003bra.2	protein_coding	YES	CCDS2569.1			244/456									lung(1)|breast(1)	2	c.(244-246)GTC>ATC			Pfam_domain:PF01146,hmmpanther:PTHR10844,hmmpanther:PTHR10844:SF16,Transmembrane_helices:TMhelix	caveolin 3		A:0		ENSP00000341940	A:0	2-Feb	5.77E-05	9.64E-05	8.69E-05			4.51E-05	0.00111	6.09E-05	rs112626848,COSM3408893	2-Feb	.		ENST00000343849	Transcript	1	A:0.0002	cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization	caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity	ENSG00000182533	g.chr3:8787341G>A	1529			MODERATE		-1.5	neutral	getma.org/?cm=msa&ty=f&p=CAV3_HUMAN&rb=2&re=150&var=V82I	NA	getma.org/?cm=var&var=hg19,3,8787341,G,A&fts=all	V82I	--	--	1																																		C3orf32_uc003bqz.2_5'Flank|CAV3_uc003brb.2_Missense_Mutation_p.V82I	0,1	1	24917393	benign(0.003)	p.V82I	NM_001234	NP_001225	A:0	tolerated(1)	0,1	CAV3_HUMAN	CAV3	HGNC	P56539	CAV3_HUMAN					2	311	+			UPI00001270F2	82			Cytoplasmic (Potential).|Required for interaction with DAG1.		SNV	CAV3,missense_variant,p.Val82Ile,ENST00000343849,NM_001234.4,NM_033337.2;CAV3,missense_variant,p.Val82Ile,ENST00000397368,;OXTR,downstream_gene_variant,,ENST00000316793,NM_000916.3;CAV3,intron_variant,,ENST00000472766,;SSUH2,upstream_gene_variant,,ENST00000478513,;SSUH2,upstream_gene_variant,,ENST00000435138,;	uc003bra.2	c.244G>A	321/1431	2	2			c.244G>A						3	SNP	c.(244-246)GTC>ATC	44	44			lung(1)|breast(1)	2	Broad	caveolin 3			8787341		0.587	ENSG00000182533	2646	g.chr3:8787341G>A	cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization	caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity							57.928442	KEEP	8	12	-1	16	6	8	12	-1	57.949581	16	6	0.475	1	0	0	0	0	1	0	0	0	--	--		0	A			C3orf32_uc003bqz.2_5'Flank|CAV3_uc003brb.2_Missense_Mutation_p.V82I	127	GBM-12-3652-TP	p.V82I	G	GCTGCTGGGCGTCCCACTGGC	NM_001234	NP_001225	8787341	P56539	CAV3_HUMAN	0			2	311	+	A	A			Missense_Mutation	82			Cytoplasmic (Potential).|Required for interaction with DAG1.			
CBL	867	broad.mit.edu	GRCh37	11	119148932	119148932	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-2562-01	TCGA-06-2562-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264033.4:c.1152T>G	p.Cys384Trp	p.C384W	ENST00000264033	NM_005188.3	384	tgT/tgG	0			1			G	C/W	uc001pwe.2	protein_coding	YES	CCDS8418.1			1152/2721								p.E366_Q409del(13)|p.C384R(7)|p.C384Y(4)|p.E369_D390del(1)|p.E366_K477del(1)	haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149	c.(1150-1152)TGT>TGG			Gene3D:3.30.40.10,Pfam_domain:PF13920,PROSITE_profiles:PS50089,hmmpanther:PTHR23007,hmmpanther:PTHR23007:SF5,SMART_domains:SM00184,Superfamily_domains:SSF57850	Cas-Br-M (murine) ecotropic retroviral				ENSP00000264033		16-Aug									COSM3397468	16-Aug	.	CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome	ENST00000264033	Transcript	1		epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000110395	g.chr11:119148932T>G	1541			MODERATE		4.715	high	getma.org/?cm=msa&ty=f&p=CBL_HUMAN&rb=381&re=419&var=C384W	getma.org/pdb.php?prot=CBL_HUMAN&from=381&to=419&var=C384W	getma.org/?cm=var&var=hg19,11,119148932,T,G&fts=all	C384W	--	--	1																																			1	1		probably_damaging(1)	p.C384W	NM_005188	NP_005179		deleterious(0)	1	CBL_HUMAN	CBL	HGNC	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)			8	1290	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	UPI000013D4A7	384			Asp/Glu-rich (acidic).|RING-type.		SNV	CBL,missense_variant,p.Cys384Trp,ENST00000264033,NM_005188.3;	uc001pwe.2	c.1152T>G	1528/11465	3	3			c.1152T>G						11	SNP	c.(1150-1152)TGT>TGG	7	7		p.E366_Q409del(13)|p.C384R(7)|p.C384Y(4)|p.E369_D390del(1)|p.E366_K477del(1)	haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149	Broad	Cas-Br-M (murine) ecotropic retroviral			119148932	CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome	0.353	ENSG00000110395	2651	g.chr11:119148932T>G	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			309			309	-43.98511	KEEP	1	3	-1	116	100	1	3	-1	9.444068	116	100	0.019417	1	0	0	0	0	1	0	0	0	--	--		0	G				85	GBM-06-2562-TP	p.C384W	T	GTAAAATATGTGCTGAAAATG	NM_005188	NP_005179	119148932	P22681	CBL_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	8	1290	+	G	G		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	Missense_Mutation	384			Asp/Glu-rich (acidic).|RING-type.			
CBLB	0	broad.mit.edu	GRCh37	3	105400636	105400636	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-12-0688-01	TCGA-12-0688-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264122.4:c.2228T>C	p.Leu743Pro	p.L743P	ENST00000264122	NM_170662.3	743	cTg/cCg	0			1			G	L/P	uc003dwc.2	protein_coding	YES	CCDS2948.1			2228/2949	Mis S				AML				lung(4)|ovary(3)|breast(1)|skin(1)	9	c.(2227-2229)CTG>CCG			hmmpanther:PTHR23007,hmmpanther:PTHR23007:SF3	Cas-Br-M (murine) ecotropic retroviral				ENSP00000264122		15/19									COSM2153905,COSM3408090	15/19	.		ENST00000264122	Transcript			cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	ENSG00000114423	g.chr3:105400636A>G	1542			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=CBLB_HUMAN&rb=619&re=818&var=L743P	NA	getma.org/?cm=var&var=hg19,3,105400636,A,G&fts=all	L743P	--	--	1																																		CBLB_uc003dwa.2_Missense_Mutation_p.L2P|CBLB_uc011bhi.1_Missense_Mutation_p.L765P|CBLB_uc003dwd.1_Missense_Mutation_p.L743P|CBLB_uc003dwe.1_Missense_Mutation_p.L743P	1,1	1		benign(0.184)	p.L743P	NM_170662	NP_733762		tolerated_low_confidence(0.16)	1,1	CBLB_HUMAN	CBLB	HGNC	Q13191	CBLB_HUMAN			C9JU85_HUMAN,B5MC15_HUMAN		15	2550	-			UPI00001AE89F	743			Pro-rich.		SNV	CBLB,missense_variant,p.Leu743Pro,ENST00000264122,NM_170662.3;CBLB,missense_variant,p.Leu126Pro,ENST00000394030,;CBLB,missense_variant,p.Leu765Pro,ENST00000394027,;CBLB,missense_variant,p.Leu743Pro,ENST00000403724,;CBLB,missense_variant,p.Leu743Pro,ENST00000405772,;CBLB,missense_variant,p.Leu2Pro,ENST00000407712,;	uc003dwc.2	c.2228T>C	2550/6780	3	3			c.2228T>C	Mis S				AML	3	SNP	c.(2227-2229)CTG>CCG	64	64			lung(4)|ovary(3)|breast(1)|skin(1)	9	Broad	Cas-Br-M (murine) ecotropic retroviral			105400636		0.343	ENSG00000114423	2652	g.chr3:105400636A>G	cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	GBM(93;588 1337 9788 29341 43499)			GBM(93;588 1337 9788 29341 43499)			134.779107	KEEP	17	30	-1	55	42	17	30	-1	138.464984	55	42	0.323308	1	0	0	0	0	1	0	0	0	--	--		0	G			CBLB_uc003dwa.2_Missense_Mutation_p.L2P|CBLB_uc011bhi.1_Missense_Mutation_p.L765P|CBLB_uc003dwd.1_Missense_Mutation_p.L743P|CBLB_uc003dwe.1_Missense_Mutation_p.L743P	121	GBM-12-0688-TP	p.L743P	A	TGTTCCATTCAGCATACAGTG	NM_170662	NP_733762	105400636	Q13191	CBLB_HUMAN	0			15	2550	-	G	G			Missense_Mutation	743			Pro-rich.			
CBR1	873	broad.mit.edu	GRCh37	21	37445093	37445093	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-5411-01	TCGA-06-5411-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290349.6:c.747G>T	p.Glu249Asp	p.E249D	ENST00000290349	NM_001757.2	249	gaG/gaT	0			1			T	E/D	uc002yvb.1	protein_coding	YES	CCDS13641.1			747/834										0	c.(745-747)GAG>GAT			hmmpanther:PTHR24322:SF236,hmmpanther:PTHR24322,Gene3D:3.40.50.720,Superfamily_domains:SSF51735	carbonyl reductase 1	Acetohexamide(DB00414)|Lubiprostone(DB01046)			ENSP00000290349		3-Mar									COSM2153140	3-Mar	.		ENST00000290349	Transcript			drug metabolic process|vitamin K metabolic process	cytoplasm	15-hydroxyprostaglandin dehydrogenase (NADP+) activity|carbonyl reductase (NADPH) activity|prostaglandin-E2 9-reductase activity|protein binding	ENSG00000159228	g.chr21:37445093G>T	1548			MODERATE		0.58	neutral	getma.org/?cm=msa&ty=f&p=CBR1_HUMAN&rb=152&re=277&var=E249D	getma.org/pdb.php?prot=CBR1_HUMAN&from=152&to=277&var=E249D	getma.org/?cm=var&var=hg19,21,37445093,G,T&fts=all	E249D	--	--	1																																		uc011aea.1_Intron|SETD4_uc002yva.2_Intron|CBR1_uc010gmy.1_3'UTR	1	1		benign(0.037)	p.E249D	NM_001757	NP_001748		tolerated(0.3)	1	CBR1_HUMAN	CBR1	HGNC	P16152	CBR1_HUMAN					3	876	+			UPI000004C784	249					SNV	CBR1,missense_variant,p.Glu249Asp,ENST00000290349,NM_001757.2;CBR1,3_prime_UTR_variant,,ENST00000530908,NM_001286789.1;SETD4,intron_variant,,ENST00000399201,;CBR1,downstream_gene_variant,,ENST00000439427,;CBR1,downstream_gene_variant,,ENST00000399191,;AP000688.14,intron_variant,,ENST00000535199,;AP000688.14,downstream_gene_variant,,ENST00000415147,;CBR1,downstream_gene_variant,,ENST00000466328,;	uc002yvb.1	c.747G>T	922/1293	2	2			c.747G>T						21	SNP	c.(745-747)GAG>GAT	32	32				0	Broad	carbonyl reductase 1		Acetohexamide(DB00414)|Lubiprostone(DB01046)	37445093		0.572	ENSG00000159228	2659	g.chr21:37445093G>T	drug metabolic process|vitamin K metabolic process	cytoplasm	15-hydroxyprostaglandin dehydrogenase (NADP+) activity|carbonyl reductase (NADPH) activity|prostaglandin-E2 9-reductase activity|protein binding							49.832617	KEEP	10	15	0.4	30	41	10	15	0.4	54.259455	30	41	0.256098	1	0	0	0	0	1	0	0	0	--	--		0	T			uc011aea.1_Intron|SETD4_uc002yva.2_Intron|CBR1_uc010gmy.1_3'UTR	94	GBM-06-5411-TP	p.E249D	G	AAGGTGCAGAGACCCCTGTGT	NM_001757	NP_001748	37445093	P16152	CBR1_HUMAN	0			3	876	+	T	T			Missense_Mutation	249						
CBR1	0	broad.mit.edu	GRCh37	21	37442646	37442646	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290349.6:c.233G>A	p.Arg78His	p.R78H	ENST00000290349	NM_001757.2	78	cGc/cAc	0			1			A	R/H	uc002yvb.1	protein_coding	YES	CCDS13641.1			233/834										0	c.(232-234)CGC>CAC			hmmpanther:PTHR24322:SF236,hmmpanther:PTHR24322,Gene3D:3.40.50.720,Pfam_domain:PF00106,Superfamily_domains:SSF51735	carbonyl reductase 1	Acetohexamide(DB00414)|Lubiprostone(DB01046)			ENSP00000290349		3-Jan									COSM3405382	3-Jan	.		ENST00000290349	Transcript			drug metabolic process|vitamin K metabolic process	cytoplasm	15-hydroxyprostaglandin dehydrogenase (NADP+) activity|carbonyl reductase (NADPH) activity|prostaglandin-E2 9-reductase activity|protein binding	ENSG00000159228	g.chr21:37442646G>A	1548			MODERATE		0.455	neutral	getma.org/?cm=msa&ty=f&p=CBR1_HUMAN&rb=6&re=151&var=R78H	getma.org/pdb.php?prot=CBR1_HUMAN&from=6&to=151&var=R78H	getma.org/?cm=var&var=hg19,21,37442646,G,A&fts=all	R78H	--	--	1																																		uc011aea.1_RNA|SETD4_uc002yva.2_Intron|CBR1_uc010gmx.1_Missense_Mutation_p.R78H|CBR1_uc010gmy.1_Missense_Mutation_p.R78H	1	1		benign(0.008)	p.R78H	NM_001757	NP_001748		tolerated(0.05)	1	CBR1_HUMAN	CBR1	HGNC	P16152	CBR1_HUMAN					1	362	+			UPI000004C784	78					SNV	CBR1,missense_variant,p.Arg78His,ENST00000530908,NM_001286789.1;CBR1,missense_variant,p.Arg78His,ENST00000290349,NM_001757.2;CBR1,missense_variant,p.Arg78His,ENST00000439427,;CBR1,missense_variant,p.Arg78His,ENST00000399191,;SETD4,intron_variant,,ENST00000399201,;RNU6-992P,downstream_gene_variant,,ENST00000363343,;AP000688.14,non_coding_transcript_exon_variant,,ENST00000535199,;AP000688.14,downstream_gene_variant,,ENST00000415147,;CBR1,non_coding_transcript_exon_variant,,ENST00000466328,;	uc002yvb.1	c.233G>A	408/1293	2	2			c.233G>A						21	SNP	c.(232-234)CGC>CAC	48	48				0	Broad	carbonyl reductase 1		Acetohexamide(DB00414)|Lubiprostone(DB01046)	37442646		0.672	ENSG00000159228	2659	g.chr21:37442646G>A	drug metabolic process|vitamin K metabolic process	cytoplasm	15-hydroxyprostaglandin dehydrogenase (NADP+) activity|carbonyl reductase (NADPH) activity|prostaglandin-E2 9-reductase activity|protein binding							-1.206547	KEEP	2	3	-1	25	18	2	3	-1	6.47326	25	18	0.073171	1	0	0	0	0	1	0	0	0	--	--		0	A			uc011aea.1_RNA|SETD4_uc002yva.2_Intron|CBR1_uc010gmx.1_Missense_Mutation_p.R78H|CBR1_uc010gmy.1_Missense_Mutation_p.R78H	230	GBM-32-1979-TP	p.R78H	G	GACTTCCTGCGCAAGGAGTAC	NM_001757	NP_001748	37442646	P16152	CBR1_HUMAN	0			1	362	+	A	A			Missense_Mutation	78						
CBS	875	broad.mit.edu	GRCh37	21	44478273	44478273	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0686-01	TCGA-06-0686-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398165.3:c.1449C>G	p.Ile483Met	p.I483M	ENST00000398165	NM_000071.2	483	atC/atG	0			1			C	I/M	uc002zcu.2	protein_coding		CCDS13693.1			1449/1656										0	c.(1447-1449)ATC>ATG			TIGRFAM_domain:TIGR01137,Gene3D:3.10.580.10,Superfamily_domains:SSF54631	cystathionine-beta-synthase	L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)			ENSP00000344460		15/17									COSM2151548,COSM2151549	15/17	.		ENST00000352178	Transcript	1		cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding	ENSG00000160200	g.chr21:44478273G>C	1550			MODERATE		0.6	neutral	getma.org/?cm=msa&ty=f&p=CBS_HUMAN&rb=471&re=551&var=I483M	NA	getma.org/?cm=var&var=hg19,21,44478273,G,C&fts=all	I483M	--	--	1																																		CBS_uc002zcs.1_Missense_Mutation_p.I378M|CBS_uc002zct.2_Missense_Mutation_p.I483M|CBS_uc002zcw.3_Missense_Mutation_p.I483M|CBS_uc002zcv.2_Missense_Mutation_p.I483M|CBS_uc002zcx.2_Missense_Mutation_p.I102M	1,1			benign(0.011)	p.I483M	NM_000071	NP_000062		tolerated(1)	1,1	CBS_HUMAN	CBS	HGNC	P35520	CBS_HUMAN			Q96EH7_HUMAN,Q3LR94_HUMAN,F5H2U1_HUMAN,C9JMA6_HUMAN		15	1694	-			UPI0000036BC5	483					SNV	CBS,missense_variant,p.Ile483Met,ENST00000398165,NM_000071.2;CBS,missense_variant,p.Ile483Met,ENST00000352178,NM_001178008.1;CBS,missense_variant,p.Ile483Met,ENST00000398168,;CBS,missense_variant,p.Ile483Met,ENST00000398158,;CBS,missense_variant,p.Ile483Met,ENST00000359624,NM_001178009.1;CBS,missense_variant,p.Ile395Met,ENST00000544202,;CBS,missense_variant,p.Ile137Met,ENST00000430013,;CBS,missense_variant,p.Ile71Met,ENST00000458223,;CBS,missense_variant,p.Ile67Met,ENST00000451248,;CBS,non_coding_transcript_exon_variant,,ENST00000461686,;CBS,non_coding_transcript_exon_variant,,ENST00000491776,;CBS,non_coding_transcript_exon_variant,,ENST00000462349,;CBS,downstream_gene_variant,,ENST00000486098,;CBS,downstream_gene_variant,,ENST00000496485,;	uc002zcu.2	c.1449C>G	1687/2583	4	4			c.1449C>G						21	SNP	c.(1447-1449)ATC>ATG	46	46				0	Broad	cystathionine-beta-synthase		L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	44478273		0.567	ENSG00000160200	2662	g.chr21:44478273G>C	cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding							92.815959	KEEP	12	15	-1	24	15	12	15	-1	93.156562	24	15	0.421875	1	0	0	0	0	1	0	0	0	--	--		0	C			CBS_uc002zcs.1_Missense_Mutation_p.I378M|CBS_uc002zct.2_Missense_Mutation_p.I483M|CBS_uc002zcw.3_Missense_Mutation_p.I483M|CBS_uc002zcv.2_Missense_Mutation_p.I483M|CBS_uc002zcx.2_Missense_Mutation_p.I102M	64	GBM-06-0686-TP	p.I483M	G	ACTGCTTGTAGATGACTTTGC	NM_000071	NP_000062	44478273	P35520	CBS_HUMAN	0			15	1694	-	C	C			Missense_Mutation	483						
CBX2	0	broad.mit.edu	GRCh37	17	77758656	77758656	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01	TCGA-32-1977-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310942.4:c.1414G>A	p.Asp472Asn	p.D472N	ENST00000310942	NM_005189.2	472	Gac/Aac	0		A:0.0008	1	A:0		A	D/N	uc002jxc.2	protein_coding	YES	CCDS32757.1			1414/1599										0	c.(1414-1416)GAC>AAC			hmmpanther:PTHR22812,hmmpanther:PTHR22812:SF82,Low_complexity_(Seg):seg	chromobox homolog 2 isoform 1		A:0		ENSP00000308750	A:0	5-May	1.65E-05	0.000104				1.60E-05			rs199672117,COSM3403339	5-May	.		ENST00000310942	Transcript	1	A:0.0002	cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	ENSG00000173894	g.chr17:77758656G>A	1552			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=CBX2_HUMAN&rb=462&re=532&var=D472N	NA	getma.org/?cm=var&var=hg19,17,77758656,G,A&fts=all	D472N	--	--	1																																			0,1	1		possibly_damaging(0.642)	p.D472N	NM_005189	NP_005180	A:0	deleterious(0.02)	0,1	CBX2_HUMAN	CBX2	HGNC	Q14781	CBX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)				5	1456	+			UPI000004C4E1	472					SNV	CBX2,missense_variant,p.Asp472Asn,ENST00000310942,NM_005189.2;CBX2,downstream_gene_variant,,ENST00000269399,NM_032647.3;	uc002jxc.2	c.1414G>A	1518/4644	1	1			c.1414G>A						17	SNP	c.(1414-1416)GAC>AAC	54	54				0	Broad	chromobox homolog 2 isoform 1			77758656		0.662	ENSG00000173894	2667	g.chr17:77758656G>A	cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding							7.720905	KEEP	2	4	-1	27	15	2	4	-1	13.356233	27	15	0.136364	1	0	0	0	0	1	0	0	0	--	--		0	A				229	GBM-32-1977-TP	p.D472N	G	CTCCGACCCCGACTCCGCCTC	NM_005189	NP_005180	77758656	Q14781	CBX2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1456	+	A	A			Missense_Mutation	472						
CBX2	0	broad.mit.edu	GRCh37	17	77758112	77758112	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-3915-01	TCGA-41-3915-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310942.4:c.870G>A	p.Leu290=	p.L290=	ENST00000310942	NM_005189.2	290	ctG/ctA	0			1			A	L	uc002jxc.2	protein_coding	YES	CCDS32757.1			870/1599										0	c.(868-870)CTG>CTA			hmmpanther:PTHR22812,hmmpanther:PTHR22812:SF82	chromobox homolog 2 isoform 1				ENSP00000308750		5-May									COSM3403338	5-May	.		ENST00000310942	Transcript	1		cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	ENSG00000173894	g.chr17:77758112G>A	1552			LOW								--	--	1																																			1	1			p.L290L	NM_005189	NP_005180			1	CBX2_HUMAN	CBX2	HGNC	Q14781	CBX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)				5	912	+			UPI000004C4E1	290					SNV	CBX2,synonymous_variant,p.=,ENST00000310942,NM_005189.2;CBX2,downstream_gene_variant,,ENST00000269399,NM_032647.3;CBX2,downstream_gene_variant,,ENST00000571484,;	uc002jxc.2	c.870G>A	974/4644	1	1			c.870G>A						17	SNP	c.(868-870)CTG>CTA	60	60				0	Broad	chromobox homolog 2 isoform 1			77758112		0.637	ENSG00000173894	2667	g.chr17:77758112G>A	cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding							-13.350475	KEEP	1	2	-1	39	53	1	2	-1	6.316567	39	53	0.035714	1	0	0	0	0	0	0	1	0	--	--		0	A				256	GBM-41-3915-TP	p.L290L	G	GGCTGGACCTGAAGGTGAGGA	NM_005189	NP_005180	77758112	Q14781	CBX2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	912	+	A	A			Silent	290						
CBX8	57332	broad.mit.edu	GRCh37	17	77769275	77769275	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5856-01	TCGA-06-5856-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269385.4:c.329C>T	p.Ser110Leu	p.S110L	ENST00000269385	NM_020649.2	110	tCg/tTg	0			1			A	S/L	uc002jxd.1	protein_coding	YES	CCDS11765.1			329/1170										0	c.(328-330)TCG>TTG			hmmpanther:PTHR22812,hmmpanther:PTHR22812:SF81	chromobox homolog 8				ENSP00000269385		5-May	6.60E-05			0.000847		1.95E-05		0.000112	rs759741194,COSM3403340	5-May	common_variant		ENST00000269385	Transcript			negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding	ENSG00000141570	g.chr17:77769275G>A	15962			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=CBX8_HUMAN&rb=81&re=139&var=S110L	NA	getma.org/?cm=var&var=hg19,17,77769275,G,A&fts=all	S110L	--	--	1																																			0,1	1		possibly_damaging(0.885)	p.S110L	NM_020649	NP_065700		deleterious(0.02)	0,1	CBX8_HUMAN	CBX8	HGNC	Q9HC52	CBX8_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		C9JM54_HUMAN		5	422	-			UPI000013D82A	110					SNV	CBX8,missense_variant,p.Ser110Leu,ENST00000269385,NM_020649.2;CBX8,missense_variant,p.Ser100Leu,ENST00000413392,;CBX8,missense_variant,p.Ser85Leu,ENST00000427800,;CBX8,non_coding_transcript_exon_variant,,ENST00000485449,;	uc002jxd.1	c.329C>T	447/3791	2	2			c.329C>T						17	SNP	c.(328-330)TCG>TTG	30	30				0	Broad	chromobox homolog 8			77769275		0.657	ENSG00000141570	2673	g.chr17:77769275G>A	negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding							36.899187	KEEP	7	7	-1	8	8	7	7	-1	36.932414	8	8	0.461538	1	0	0	0	0	1	0	0	0	--	--		0	A				101	GBM-06-5856-TP	p.S110L	G	GTCCTGGGGCGAGCGGCCAGG	NM_020649	NP_065700	77769275	Q9HC52	CBX8_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	422	-	A	A			Missense_Mutation	110						
CC2D1A	54862	broad.mit.edu	GRCh37	19	14034593	14034593	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0190-01	TCGA-06-0190-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318003.7:c.1909C>T	p.Arg637Cys	p.R637C	ENST00000318003	NM_017721.4	637	Cgc/Tgc	0			1			T	R/C	uc002mxo.2	protein_coding	YES	CCDS42512.1			1909/2856										0	c.(1909-1911)CGC>TGC			hmmpanther:PTHR13076,hmmpanther:PTHR13076:SF7	coiled-coil and C2 domain containing 1A				ENSP00000313601		17/29	2.48E-05			0.000232		1.51E-05			rs761771153,COSM3403822	17/29	.		ENST00000318003	Transcript	1		positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	ENSG00000132024	g.chr19:14034593C>T	30237			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=C2D1A_HUMAN&rb=601&re=656&var=R637C	NA	getma.org/?cm=var&var=hg19,19,14034593,C,T&fts=all	R637C	--	--	1																																		CC2D1A_uc002mxp.2_Missense_Mutation_p.R637C|CC2D1A_uc010dzh.2_Missense_Mutation_p.R206C|CC2D1A_uc002mxq.1_Missense_Mutation_p.R282C	0,1	1		probably_damaging(0.915)	p.R637C	NM_017721	NP_060191		deleterious(0)	0,1	C2D1A_HUMAN	CC2D1A	HGNC	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)				17	2208	+			UPI0000203524	637					SNV	CC2D1A,missense_variant,p.Arg637Cys,ENST00000318003,NM_017721.4;CC2D1A,missense_variant,p.Arg637Cys,ENST00000589606,;CC2D1A,missense_variant,p.Arg92Cys,ENST00000587508,;CC2D1A,3_prime_UTR_variant,,ENST00000586955,;CC2D1A,non_coding_transcript_exon_variant,,ENST00000589138,;CC2D1A,non_coding_transcript_exon_variant,,ENST00000589224,;CC2D1A,downstream_gene_variant,,ENST00000585896,;CC2D1A,downstream_gene_variant,,ENST00000588932,;CC2D1A,downstream_gene_variant,,ENST00000589679,;	uc002mxo.2	c.1909C>T	2150/3581	2	2			c.1909C>T						19	SNP	c.(1909-1911)CGC>TGC	24	24				0	Broad	coiled-coil and C2 domain containing 1A			14034593		0.627	ENSG00000132024	2675	g.chr19:14034593C>T	positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity							116.673709	KEEP	25	27	-1	100	110	25	27	-1	133.877353	100	110	0.210762	1	0	0	0	0	1	0	0	0	--	--		0	T			CC2D1A_uc002mxp.2_Missense_Mutation_p.R637C|CC2D1A_uc010dzh.2_Missense_Mutation_p.R206C|CC2D1A_uc002mxq.1_Missense_Mutation_p.R282C	43	GBM-06-0190-TP	p.R637C	C	GCCCACCGCCCGCTTTGAGCA	NM_017721	NP_060191	14034593	Q6P1N0	C2D1A_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		17	2208	+	T	T			Missense_Mutation	637						
CC2D1A	54862	broad.mit.edu	GRCh37	19	14029731	14029731	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-5856-01	TCGA-06-5856-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318003.7:c.1025C>A	p.Pro342His	p.P342H	ENST00000318003	NM_017721.4	342	cCc/cAc	0			1			A	P/H	uc002mxo.2	protein_coding	YES	CCDS42512.1			1025/2856										0	c.(1024-1026)CCC>CAC			Low_complexity_(Seg):seg,hmmpanther:PTHR13076,hmmpanther:PTHR13076:SF7	coiled-coil and C2 domain containing 1A				ENSP00000313601		29-Oct									COSM3403821	29-Oct	.		ENST00000318003	Transcript	1		positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	ENSG00000132024	g.chr19:14029731C>A	30237			MODERATE		2.61	medium	getma.org/?cm=msa&ty=f&p=C2D1A_HUMAN&rb=201&re=400&var=P342H	NA	getma.org/?cm=var&var=hg19,19,14029731,C,A&fts=all	P342H	--	--	1																																		CC2D1A_uc002mxn.2_Missense_Mutation_p.P241H|CC2D1A_uc002mxp.2_Missense_Mutation_p.P342H|CC2D1A_uc010dzh.2_5'UTR|CC2D1A_uc002mxq.1_5'UTR	1	1		probably_damaging(0.954)	p.P342H	NM_017721	NP_060191		deleterious(0)	1	C2D1A_HUMAN	CC2D1A	HGNC	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)				10	1324	+			UPI0000203524	342			Pro-rich.		SNV	CC2D1A,missense_variant,p.Pro342His,ENST00000318003,NM_017721.4;CC2D1A,missense_variant,p.Pro342His,ENST00000589606,;CC2D1A,upstream_gene_variant,,ENST00000587508,;CC2D1A,missense_variant,p.Pro188His,ENST00000586955,;CC2D1A,non_coding_transcript_exon_variant,,ENST00000589138,;CC2D1A,non_coding_transcript_exon_variant,,ENST00000585896,;CC2D1A,upstream_gene_variant,,ENST00000589224,;CC2D1A,upstream_gene_variant,,ENST00000588932,;CC2D1A,upstream_gene_variant,,ENST00000589679,;	uc002mxo.2	c.1025C>A	1266/3581	2	2			c.1025C>A						19	SNP	c.(1024-1026)CCC>CAC	26	26				0	Broad	coiled-coil and C2 domain containing 1A			14029731		0.672	ENSG00000132024	2675	g.chr19:14029731C>A	positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity							32.014034	KEEP	5	7	0.583333333	3	11	5	7	0.583333333	32.025247	3	11	0.521739	1	0	0	0	0	1	0	0	0	--	--		0	A			CC2D1A_uc002mxn.2_Missense_Mutation_p.P241H|CC2D1A_uc002mxp.2_Missense_Mutation_p.P342H|CC2D1A_uc010dzh.2_5'UTR|CC2D1A_uc002mxq.1_5'UTR	101	GBM-06-5856-TP	p.P342H	C	CCAGAGGTGCCCCCACCCCCG	NM_017721	NP_060191	14029731	Q6P1N0	C2D1A_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		10	1324	+	A	A			Missense_Mutation	342			Pro-rich.			
CC2D1B	200014	broad.mit.edu	GRCh37	1	52820329	52820329	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0743-01	TCGA-06-0743-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371586.2:c.2399T>C	p.Leu800Pro	p.L800P	ENST00000371586	NM_032449.2	800	cTg/cCg	0			1			G	L/P	uc001ctq.1	protein_coding	YES	CCDS30714.1			2399/2577									ovary(2)	2	c.(2398-2400)CTG>CCG			hmmpanther:PTHR13076:SF5,hmmpanther:PTHR13076,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	coiled-coil and C2 domain containing 1B				ENSP00000360642		23/24									COSM3400871,COSM3400872	23/24	.		ENST00000371586	Transcript						ENSG00000154222	g.chr1:52820329A>G	29386			MODERATE		1.385	low	getma.org/?cm=msa&ty=f&p=C2D1B_HUMAN&rb=800&re=858&var=L800P	NA	getma.org/?cm=var&var=hg19,1,52820329,A,G&fts=all	L800P	--	--	1																																		CC2D1B_uc001ctr.2_Missense_Mutation_p.L340P|CC2D1B_uc001cts.2_Missense_Mutation_p.L485P	1,1	1		possibly_damaging(0.886)	p.L800P	NM_032449	NP_115825		deleterious(0)	1,1	C2D1B_HUMAN	CC2D1B	HGNC	Q5T0F9	C2D1B_HUMAN					23	2537	-			UPI00001609B7	800					SNV	CC2D1B,missense_variant,p.Leu800Pro,ENST00000371586,NM_032449.2;CC2D1B,missense_variant,p.Leu794Pro,ENST00000284376,;CC2D1B,missense_variant,p.Leu175Pro,ENST00000438831,;CC2D1B,missense_variant,p.Leu581Pro,ENST00000438021,;CC2D1B,missense_variant,p.Leu614Pro,ENST00000450942,;RP11-155O18.6,downstream_gene_variant,,ENST00000606527,;CC2D1B,non_coding_transcript_exon_variant,,ENST00000460261,;CC2D1B,non_coding_transcript_exon_variant,,ENST00000470844,;CC2D1B,downstream_gene_variant,,ENST00000494789,;CC2D1B,non_coding_transcript_exon_variant,,ENST00000491136,;CC2D1B,non_coding_transcript_exon_variant,,ENST00000460370,;CC2D1B,non_coding_transcript_exon_variant,,ENST00000492426,;CC2D1B,downstream_gene_variant,,ENST00000485966,;	uc001ctq.1	c.2399T>C	2538/5638	4	4			c.2399T>C						1	SNP	c.(2398-2400)CTG>CCG	23	23			ovary(2)	2	Broad	coiled-coil and C2 domain containing 1B			52820329		0.567	ENSG00000154222	2676	g.chr1:52820329A>G										-26.328591	KEEP	1	4	-1	69	102	1	4	-1	8.217218	69	102	0.028369	1	0	0	0	0	1	0	0	0	--	--		0	G			CC2D1B_uc001ctr.2_Missense_Mutation_p.L340P|CC2D1B_uc001cts.2_Missense_Mutation_p.L485P	65	GBM-06-0743-TP	p.L800P	A	CTCCAGTTTCAGGTGTGCTGT	NM_032449	NP_115825	52820329	Q5T0F9	C2D1B_HUMAN	0			23	2537	-	G	G			Missense_Mutation	800						
CC2D2A	0	broad.mit.edu	GRCh37	4	15589458	15589458	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000424120.1:c.4085C>T	p.Ala1362Val	p.A1362V	ENST00000424120		1362	gCa/gTa	0			1			T	A/V	uc010idv.2	protein_coding	YES	CCDS47026.1			4085/4863									pancreas(2)|ovary(1)	3	c.(4084-4086)GCA>GTA			hmmpanther:PTHR20837,hmmpanther:PTHR20837:SF4	coiled-coil and C2 domain containing 2A isoform				ENSP00000403465		32/37									COSM3409122,COSM3409121	32/37	.		ENST00000424120	Transcript	1		cell projection organization	cilium|microtubule basal body		ENSG00000048342	g.chr4:15589458C>T	29253			MODERATE		2.425	medium	getma.org/?cm=msa&ty=f&p=C2D2A_HUMAN&rb=5&re=1618&var=A1362V	NA	getma.org/?cm=var&var=hg19,4,15589458,C,T&fts=all	A1362V	--	--	1																																		CC2D2A_uc003gnx.2_Missense_Mutation_p.A1254V|CC2D2A_uc003gnz.1_RNA|CC2D2A_uc003goa.1_RNA	1,1	1		possibly_damaging(0.561)	p.A1362V	NM_001080522	NP_001073991		tolerated(0.11)	1,1	C2D2A_HUMAN	CC2D2A	HGNC	Q9P2K1	C2D2A_HUMAN			D6R9V3_HUMAN		33	4330	+			UPI000023731A	1362					SNV	CC2D2A,missense_variant,p.Ala1362Val,ENST00000424120,;CC2D2A,missense_variant,p.Ala1362Val,ENST00000413206,;CC2D2A,missense_variant,p.Ala1362Val,ENST00000503292,NM_001080522.2;CC2D2A,missense_variant,p.Ala1254Val,ENST00000389652,;CC2D2A,upstream_gene_variant,,ENST00000514039,;CC2D2A,missense_variant,p.Ala805Val,ENST00000506643,;	uc010idv.2	c.4085C>T	4339/5249	2	2			c.4085C>T						4	SNP	c.(4084-4086)GCA>GTA	46	46			pancreas(2)|ovary(1)	3	Broad	coiled-coil and C2 domain containing 2A isoform			15589458		0.383	ENSG00000048342	2677	g.chr4:15589458C>T	cell projection organization	cilium|microtubule basal body								-7.031217	KEEP	4	1	-1	23	46	4	1	-1	6.418535	23	46	0.048387	1	0	0	0	0	1	0	0	0	--	--		0	T			CC2D2A_uc003gnx.2_Missense_Mutation_p.A1254V|CC2D2A_uc003gnz.1_RNA|CC2D2A_uc003goa.1_RNA	160	GBM-19-1790-TP	p.A1362V	C	GATCTCCTGGCAGGGGATGAA	NM_001080522	NP_001073991	15589458	Q9P2K1	C2D2A_HUMAN	0			33	4330	+	T	T			Missense_Mutation	1362						
CCAR1	0	broad.mit.edu	GRCh37	10	70496806	70496806	+	splice_donor_variant	Splice_Site	SNP	G	G	C			TCGA-12-0692-01	TCGA-12-0692-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265872.6:c.246+1G>C		p.X82_splice	ENST00000265872	NM_018237.2			0			1			C		uc001joo.2	protein_coding	YES	CCDS7282.1			246/3453									ovary(6)|large_intestine(1)	7	c.e3+1				cell-cycle and apoptosis regulatory protein 1				ENSP00000265872											COSM2154310		.		ENST00000265872	Transcript			apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	ENSG00000060339	g.chr10:70496806G>C	24236			HIGH	24-Mar							--	--	1																																		CCAR1_uc001jol.1_Splice_Site|CCAR1_uc001jom.1_Splice_Site|CCAR1_uc009xpx.1_Splice_Site_p.Q82_splice|CCAR1_uc001jon.1_Splice_Site_p.A72_splice|CCAR1_uc010qiz.1_Splice_Site_p.Q82_splice|CCAR1_uc010qja.1_Splice_Site_p.Q82_splice|CCAR1_uc010qjb.1_Splice_Site	1	1			p.Q82_splice	NM_018237	NP_060707			1	CCAR1_HUMAN	CCAR1	HGNC	Q8IX12	CCAR1_HUMAN			F5H7M9_HUMAN,F5H3I8_HUMAN,F5H1H2_HUMAN		3	365	+			UPI000004D30A						SNV	CCAR1,splice_donor_variant,,ENST00000265872,NM_018237.2,NM_001282960.1,NM_001282959.1;CCAR1,splice_donor_variant,,ENST00000535016,;CCAR1,splice_donor_variant,,ENST00000543719,;CCAR1,splice_donor_variant,,ENST00000539539,;CCAR1,splice_donor_variant,,ENST00000536012,;CCAR1,splice_donor_variant,,ENST00000543225,;CCAR1,splice_donor_variant,,ENST00000538031,;CCAR1,splice_donor_variant,,ENST00000536391,;CCAR1,downstream_gene_variant,,ENST00000494903,;Y_RNA,upstream_gene_variant,,ENST00000352915,;CCAR1,splice_donor_variant,,ENST00000540210,;CCAR1,splice_donor_variant,,ENST00000543229,;CCAR1,splice_donor_variant,,ENST00000541012,;	uc001joo.2	c.246_splice	-/4683	5	3			c.246_splice						10	SNP	c.e3+1	52	52			ovary(6)|large_intestine(1)	7	Broad	cell-cycle and apoptosis regulatory protein 1			70496806		0.393	ENSG00000060339	2679	g.chr10:70496806G>C	apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding							83.214303	KEEP	11	19	-1	4	5	11	19	-1	84.631745	4	5	0.740741	1	0	0	0	0	0	0	0	1	--	--		0	C			CCAR1_uc001jol.1_Splice_Site|CCAR1_uc001jom.1_Splice_Site|CCAR1_uc009xpx.1_Splice_Site_p.Q82_splice|CCAR1_uc001jon.1_Splice_Site_p.A72_splice|CCAR1_uc010qiz.1_Splice_Site_p.Q82_splice|CCAR1_uc010qja.1_Splice_Site_p.Q82_splice|CCAR1_uc010qjb.1_Splice_Site	122	GBM-12-0692-TP	p.Q82_splice	G	ATTACAACAGGTAAATCTTTA	NM_018237	NP_060707	70496806	Q8IX12	CCAR1_HUMAN	0			3	365	+	C	C			Splice_Site							
CCBE1	147372	broad.mit.edu	GRCh37	18	57106776	57106776	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0743-01	TCGA-06-0743-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000439986.4:c.950A>C	p.Lys317Thr	p.K317T	ENST00000439986	NM_133459.3	317	aAg/aCg	0			1			G	K/T	uc002lib.2	protein_coding	YES	CCDS32838.1			950/1221									skin(2)|ovary(1)	3	c.(949-951)AAG>ACG			hmmpanther:PTHR24023,Pfam_domain:PF01391	collagen and calcium binding EGF domains 1				ENSP00000404464		11-Sep									COSM3403594	11-Sep	.		ENST00000439986	Transcript	1		lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	ENSG00000183287	g.chr18:57106776T>G	29426			MODERATE		2.14	medium	getma.org/?cm=msa&ty=f&p=CCBE1_HUMAN&rb=297&re=335&var=K317T	NA	getma.org/?cm=var&var=hg19,18,57106776,T,G&fts=all	K317T	--	--	1																																		CCBE1_uc010dpq.2_Missense_Mutation_p.K46T|CCBE1_uc002lia.2_Missense_Mutation_p.K170T	1	1		probably_damaging(0.999)	p.K317T	NM_133459	NP_597716		deleterious(0.02)	1	CCBE1_HUMAN	CCBE1	HGNC	Q6UXH8	CCBE1_HUMAN			K7EQ81_HUMAN		9	1020	-		Colorectal(73;0.175)	UPI000004C616	317			Collagen-like 2.		SNV	CCBE1,missense_variant,p.Lys317Thr,ENST00000439986,NM_133459.3;CCBE1,missense_variant,p.Lys46Thr,ENST00000398179,;CCBE1,splice_region_variant,,ENST00000589116,;	uc002lib.2	c.950A>C	988/6227	3	3			c.950A>C						18	SNP	c.(949-951)AAG>ACG	49	49			skin(2)|ovary(1)	3	Broad	collagen and calcium binding EGF domains 1			57106776		0.348	ENSG00000183287	2680	g.chr18:57106776T>G	lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)			NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)			297.227314	KEEP	55	63	-1	78	113	55	63	-1	301.678408	78	113	0.365591	1	0	0	0	0	1	0	0	0	--	--		0	G			CCBE1_uc010dpq.2_Missense_Mutation_p.K46T|CCBE1_uc002lia.2_Missense_Mutation_p.K170T	65	GBM-06-0743-TP	p.K317T	T	AAGGCTTACCTTAGAACCATC	NM_133459	NP_597716	57106776	Q6UXH8	CCBE1_HUMAN	0			9	1020	-	G	G		Colorectal(73;0.175)	Missense_Mutation	317			Collagen-like 2.			
CCDC102B	0	broad.mit.edu	GRCh37	18	66504203	66504204	+	inframe_insertion	In_Frame_Ins	INS	-	-	TAT			TCGA-32-1977-01	TCGA-32-1977-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319445.6:c.205_207dupATT	p.Ile69dup	p.I69dup	ENST00000319445	NM_001093729.1	68	gat/gaTATt	0			1			TAT	D/DI	uc002lkk.2	protein_coding		CCDS11996.2			203-204/1542									ovary(1)|lung(1)|skin(1)	3	c.(202-204)GAT>GATATT			hmmpanther:PTHR13140:SF295,hmmpanther:PTHR13140	coiled-coil domain containing 102B				ENSP00000316237		8-Feb										8-Feb	.		ENST00000319445	Transcript						ENSG00000150636	g.chr18:66504203_66504204insTAT	26295	4		MODERATE								--	--	1																																		CCDC102B_uc002lki.2_In_Frame_Ins_p.69_70insI|CCDC102B_uc002lkj.1_In_Frame_Ins_p.69_70insI					p.69_70insI	NM_001093729	NP_001087198				C102B_HUMAN	CCDC102B	HGNC	Q68D86	C102B_HUMAN			J3QLG6_HUMAN,J3QL62_HUMAN,J3KRT2_HUMAN,J3KRG3_HUMAN,A1A4H1_HUMAN		4	426_427	+		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)	UPI0000201E87	69_70					insertion	CCDC102B,inframe_insertion,p.Ile69dup,ENST00000360242,NM_024781.2;CCDC102B,inframe_insertion,p.Ile69dup,ENST00000319445,NM_001093729.1;CCDC102B,inframe_insertion,p.Ile69dup,ENST00000584156,;CCDC102B,inframe_insertion,p.Ile69dup,ENST00000358653,;CCDC102B,inframe_insertion,p.Ile69dup,ENST00000584775,;CCDC102B,inframe_insertion,p.Ile69dup,ENST00000582371,;CCDC102B,inframe_insertion,p.Ile69dup,ENST00000578970,;CCDC102B,inframe_insertion,p.Ile69dup,ENST00000581520,;CCDC102B,non_coding_transcript_exon_variant,,ENST00000577772,;	uc002lkk.2	c.203_204insTAT	253-254/2644	5	5			c.203_204insTAT						18	INS	c.(202-204)GAT>GATATT	49	49			ovary(1)|lung(1)|skin(1)	3	Broad	coiled-coil domain containing 102B			66504204		0.505	ENSG00000150636	2686	g.chr18:66504203_66504204insTAT																							0.16	1	0	0	1	1	0	0	0	0	--	--		0	TAT			CCDC102B_uc002lki.2_In_Frame_Ins_p.69_70insI|CCDC102B_uc002lkj.1_In_Frame_Ins_p.69_70insI	229	GBM-32-1977-TP	p.69_70insI	-	AACAAATGGGATATTTGTGAAG	NM_001093729	NP_001087198	66504203	Q68D86	C102B_HUMAN	0			4	426_427	+	TAT	TAT		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)	In_Frame_Ins	69_70						
CCDC105	126402	broad.mit.edu	GRCh37	19	15132177	15132177	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2561-01	TCGA-06-2561-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000292574.3:c.887C>T	p.Ala296Val	p.A296V	ENST00000292574	NM_173482.2	296	gCg/gTg	0			1			T	A/V	uc002nae.2	protein_coding	YES	CCDS12322.1			887/1500									ovary(1)	1	c.(886-888)GCG>GTG			Pfam_domain:PF03148	coiled-coil domain containing 105				ENSP00000292574		7-Apr									COSM2152717	7-Apr	.		ENST00000292574	Transcript			microtubule cytoskeleton organization	microtubule		ENSG00000160994	g.chr19:15132177C>T	26866			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=CC105_HUMAN&rb=121&re=471&var=A296V	NA	getma.org/?cm=var&var=hg19,19,15132177,C,T&fts=all	A296V	--	--	1																																			1	1		benign(0.184)	p.A296V	NM_173482	NP_775753		tolerated(0.17)	1	CC105_HUMAN	CCDC105	HGNC	Q8IYK2	CC105_HUMAN					4	986	+			UPI0000073091	296					SNV	CCDC105,missense_variant,p.Ala296Val,ENST00000292574,NM_173482.2;SLC1A6,intron_variant,,ENST00000595863,;	uc002nae.2	c.887C>T	969/1732	2	2			c.887C>T						19	SNP	c.(886-888)GCG>GTG	45	45			ovary(1)	1	Broad	coiled-coil domain containing 105			15132177		0.597	ENSG00000160994	2689	g.chr19:15132177C>T	microtubule cytoskeleton organization	microtubule								26.605178	KEEP	4	8	-1	16	24	4	8	-1	29.281259	16	24	0.244444	1	0	0	0	0	1	0	0	0	--	--		0	T				84	GBM-06-2561-TP	p.A296V	C	TGCGCCTTGGCGCTAAACGAA	NM_173482	NP_775753	15132177	Q8IYK2	CC105_HUMAN	0			4	986	+	T	T			Missense_Mutation	296						
CCDC108	0	broad.mit.edu	GRCh37	2	219870881	219870883	+	inframe_deletion	In_Frame_Del	DEL	GGG	GGG	-			TCGA-06-0171-01	TCGA-06-0171-01	GGG	GGG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341552.5:c.4782_4784del	p.Pro1595del	p.P1595del	ENST00000341552	NM_194302.3	1594	acCCCa/aca	0			1			-	TP/T	uc002vjl.1	protein_coding	YES	CCDS2430.2			4782-4784/5778									ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4	c.(4780-4785)ACCCCA>ACA			hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF197	coiled-coil domain containing 108 isoform 1				ENSP00000340776		31/35									COSM2150328	31/35	.		ENST00000341552	Transcript				integral to membrane	structural molecule activity	ENSG00000181378	g.chr2:219870881_219870883delGGG	25325			MODERATE								--	--	1																																			1	1			p.P1595del	NM_194302	NP_919278			1	CC108_HUMAN	CCDC108	HGNC	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	C9JLP9_HUMAN,C9JIV0_HUMAN		31	4866_4868	-		Renal(207;0.0915)	UPI0000609097	1595					deletion	CCDC108,inframe_deletion,p.Pro1595del,ENST00000341552,NM_194302.3;CCDC108,inframe_deletion,p.Pro1595del,ENST00000441968,;CCDC108,inframe_deletion,p.Pro1595del,ENST00000453220,;MIR375,upstream_gene_variant,,ENST00000362103,;AC097468.4,intron_variant,,ENST00000441450,;	uc002vjl.1	c.4782_4784delCCC	4866-4868/5953	5	5			c.4782_4784delCCC						2	DEL	c.(4780-4785)ACCCCA>ACA	22	22			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4	Broad	coiled-coil domain containing 108 isoform 1			219870883		0.626	ENSG00000181378	2692	g.chr2:219870881_219870883delGGG		integral to membrane	structural molecule activity																				0.24	1	1	0	1	0	0	0	0	0	--	--		0	-				35	GBM-06-0171-TP	p.P1595del	GGG	CTCCTCCTTTGGGGTCTGCAGTT	NM_194302	NP_919278	219870881	Q6ZU64	CC108_HUMAN	0		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	31	4866_4868	-	-	-		Renal(207;0.0915)	In_Frame_Del	1595						
CCDC108	0	broad.mit.edu	GRCh37	2	219892442	219892442	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341552.5:c.2141G>A	p.Arg714His	p.R714H	ENST00000341552	NM_194302.3	714	cGc/cAc	0			1			T	R/H	uc002vjl.1	protein_coding	YES	CCDS2430.2			2141/5778									ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4	c.(2140-2142)CGC>CAC			hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF197	coiled-coil domain containing 108 isoform 1				ENSP00000340776		13/35	2.47E-05			0.000116		3.01E-05			rs772103989,COSM3044310	13/35	.		ENST00000341552	Transcript				integral to membrane	structural molecule activity	ENSG00000181378	g.chr2:219892442C>T	25325			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=CC108_HUMAN&rb=571&re=1529&var=R714H	NA	getma.org/?cm=var&var=hg19,2,219892442,C,T&fts=all	R714H	--	--	1																																		CCDC108_uc010fwa.1_Missense_Mutation_p.R157H|CCDC108_uc010zkp.1_Missense_Mutation_p.R703H|CCDC108_uc010zkq.1_Missense_Mutation_p.R649H	0,1	1		benign(0.316)	p.R714H	NM_194302	NP_919278		deleterious(0.04)	0,1	CC108_HUMAN	CCDC108	HGNC	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	C9JLP9_HUMAN,C9JIV0_HUMAN		13	2225	-		Renal(207;0.0915)	UPI0000609097	714					SNV	CCDC108,missense_variant,p.Arg714His,ENST00000341552,NM_194302.3;CCDC108,missense_variant,p.Arg714His,ENST00000441968,;CCDC108,missense_variant,p.Arg714His,ENST00000453220,;CCDC108,missense_variant,p.Arg703His,ENST00000409865,NM_001278295.1;CCDC108,missense_variant,p.Arg649His,ENST00000410037,NM_001278296.1;CCDC108,downstream_gene_variant,,ENST00000457968,;CCDC108,downstream_gene_variant,,ENST00000436631,;CCDC108,non_coding_transcript_exon_variant,,ENST00000462848,;CCDC108,non_coding_transcript_exon_variant,,ENST00000463683,;CCDC108,non_coding_transcript_exon_variant,,ENST00000474601,;	uc002vjl.1	c.2141G>A	2225/5953	1	1			c.2141G>A						2	SNP	c.(2140-2142)CGC>CAC	6	6			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4	Broad	coiled-coil domain containing 108 isoform 1			219892442		0.597	ENSG00000181378	2692	g.chr2:219892442C>T		integral to membrane	structural molecule activity							95.084941	KEEP	16	25	-1	28	41	16	25	-1	96.698796	28	41	0.363636	1	0	0	0	0	1	0	0	0	--	--		0	T			CCDC108_uc010fwa.1_Missense_Mutation_p.R157H|CCDC108_uc010zkp.1_Missense_Mutation_p.R703H|CCDC108_uc010zkq.1_Missense_Mutation_p.R649H	65	GBM-06-0743-TP	p.R714H	C	GAAGTGCAGGCGCATGGCCAT	NM_194302	NP_919278	219892442	Q6ZU64	CC108_HUMAN	0		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	13	2225	-	T	T		Renal(207;0.0915)	Missense_Mutation	714						
CCDC108	0	broad.mit.edu	GRCh37	2	219874081	219874081	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-5412-01	TCGA-06-5412-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341552.5:c.4554C>G	p.Asp1518Glu	p.D1518E	ENST00000341552	NM_194302.3	1518	gaC/gaG	0			1			C	D/E	uc002vjl.1	protein_coding	YES	CCDS2430.2			4554/5778									ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4	c.(4552-4554)GAC>GAG			hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF197	coiled-coil domain containing 108 isoform 1				ENSP00000340776		28/35	8.25E-06					1.53E-05			rs778640324,COSM3407582	28/35	.		ENST00000341552	Transcript				integral to membrane	structural molecule activity	ENSG00000181378	g.chr2:219874081G>C	25325			MODERATE		2.255	medium	getma.org/?cm=msa&ty=f&p=CC108_HUMAN&rb=571&re=1529&var=D1518E	NA	getma.org/?cm=var&var=hg19,2,219874081,G,C&fts=all	D1518E	--	--	1																																			0,1	1		benign(0.422)	p.D1518E	NM_194302	NP_919278		tolerated(0.06)	0,1	CC108_HUMAN	CCDC108	HGNC	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	C9JLP9_HUMAN,C9JIV0_HUMAN		28	4638	-		Renal(207;0.0915)	UPI0000609097	1518					SNV	CCDC108,missense_variant,p.Asp1518Glu,ENST00000341552,NM_194302.3;CCDC108,missense_variant,p.Asp1518Glu,ENST00000441968,;CCDC108,missense_variant,p.Asp1518Glu,ENST00000453220,;AC097468.4,intron_variant,,ENST00000441450,;	uc002vjl.1	c.4554C>G	4638/5953	4	4			c.4554C>G						2	SNP	c.(4552-4554)GAC>GAG	48	48			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4	Broad	coiled-coil domain containing 108 isoform 1			219874081		0.587	ENSG00000181378	2692	g.chr2:219874081G>C		integral to membrane	structural molecule activity							-6.075892	KEEP	5	3	-1	53	75	5	3	-1	18.454362	53	75	0.058333	1	0	0	0	0	1	0	0	0	--	--		0	C				95	GBM-06-5412-TP	p.D1518E	G	TGCATACCAGGTCTGCACTGT	NM_194302	NP_919278	219874081	Q6ZU64	CC108_HUMAN	0		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	28	4638	-	C	C		Renal(207;0.0915)	Missense_Mutation	1518						
CCDC110	256309	broad.mit.edu	GRCh37	4	186381079	186381079	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-02-2470-01	TCGA-02-2470-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307588.3:c.662A>G	p.Asp221Gly	p.D221G	ENST00000307588	NM_152775.3	221	gAt/gGt	0			1			C	D/G	uc003ixu.3	protein_coding	YES	CCDS3843.1			662/2502									central_nervous_system(1)	1	c.(661-663)GAT>GGT			hmmpanther:PTHR32083,hmmpanther:PTHR32083:SF25	coiled-coil domain containing 110 isoform a				ENSP00000306776		7-Jun									COSM3409200	7-Jun	.		ENST00000307588	Transcript				nucleus		ENSG00000168491	g.chr4:186381079T>C	28504			MODERATE		1.155	low	getma.org/?cm=msa&ty=f&p=CC110_HUMAN&rb=1&re=474&var=D221G	NA	getma.org/?cm=var&var=hg19,4,186381079,T,C&fts=all	D221G	--	--	1																																		CCDC110_uc003ixv.3_Missense_Mutation_p.D184G|CCDC110_uc011ckt.1_Missense_Mutation_p.D221G	1	1		benign(0.018)	p.D221G	NM_152775	NP_689988		tolerated(0.16)	1	CC110_HUMAN	CCDC110	HGNC	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)			6	738	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	UPI0000070BFC	221					SNV	CCDC110,missense_variant,p.Asp221Gly,ENST00000307588,NM_152775.3;CCDC110,missense_variant,p.Asp184Gly,ENST00000393540,NM_001145411.1;CCDC110,missense_variant,p.Asp221Gly,ENST00000510617,;CCDC110,missense_variant,p.Asp241Gly,ENST00000506876,;CCDC110,downstream_gene_variant,,ENST00000507501,;CCDC110,downstream_gene_variant,,ENST00000506962,;CCDC110,3_prime_UTR_variant,,ENST00000510481,;CCDC110,downstream_gene_variant,,ENST00000504020,;CCDC110,upstream_gene_variant,,ENST00000508538,;	uc003ixu.3	c.662A>G	738/2898	3	3			c.662A>G						4	SNP	c.(661-663)GAT>GGT	15	15			central_nervous_system(1)	1	Broad	coiled-coil domain containing 110 isoform a			186381079		0.323	ENSG00000168491	2696	g.chr4:186381079T>C		nucleus								-25.026922	KEEP	1	3	-1	69	77	1	3	-1	10.084842	69	77	0.027972	1	0	0	0	0	1	0	0	0	--	--		0	C			CCDC110_uc003ixv.3_Missense_Mutation_p.D184G|CCDC110_uc011ckt.1_Missense_Mutation_p.D221G	5	GBM-02-2470-TP	p.D221G	T	TTTGGATTTATCCAGAATTAC	NM_152775	NP_689988	186381079	Q8TBZ0	CC110_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	738	-	C	C		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	Missense_Mutation	221						
CCDC110	256309	broad.mit.edu	GRCh37	4	186381243	186381243	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0744-01	TCGA-06-0744-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307588.3:c.498C>T	p.Ser166=	p.S166=	ENST00000307588	NM_152775.3	166	tcC/tcT	0			1			A	S	uc003ixu.3	protein_coding	YES	CCDS3843.1			498/2502									central_nervous_system(1)	1	c.(496-498)TCC>TCT			hmmpanther:PTHR32083,hmmpanther:PTHR32083:SF25	coiled-coil domain containing 110 isoform a				ENSP00000306776		7-Jun	3.29E-05					4.54E-05		6.09E-05	rs761432896,COSM2151681	7-Jun	.		ENST00000307588	Transcript				nucleus		ENSG00000168491	g.chr4:186381243G>A	28504			LOW								--	--	1																																		CCDC110_uc003ixv.3_Silent_p.S129S|CCDC110_uc011ckt.1_Silent_p.S166S	0,1	1			p.S166S	NM_152775	NP_689988			0,1	CC110_HUMAN	CCDC110	HGNC	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)			6	574	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	UPI0000070BFC	166					SNV	CCDC110,synonymous_variant,p.=,ENST00000307588,NM_152775.3;CCDC110,synonymous_variant,p.=,ENST00000393540,NM_001145411.1;CCDC110,synonymous_variant,p.=,ENST00000510617,;CCDC110,synonymous_variant,p.=,ENST00000506876,;CCDC110,non_coding_transcript_exon_variant,,ENST00000507501,;CCDC110,non_coding_transcript_exon_variant,,ENST00000506962,;CCDC110,3_prime_UTR_variant,,ENST00000510481,;CCDC110,downstream_gene_variant,,ENST00000504020,;CCDC110,upstream_gene_variant,,ENST00000508538,;	uc003ixu.3	c.498C>T	574/2898	2	2			c.498C>T						4	SNP	c.(496-498)TCC>TCT	18	18			central_nervous_system(1)	1	Broad	coiled-coil domain containing 110 isoform a			186381243		0.348	ENSG00000168491	2696	g.chr4:186381243G>A		nucleus								99.17271	KEEP	23	11	-1	38	27	23	11	-1	101.28775	38	27	0.340426	1	0	0	0	0	0	0	1	0	--	--		0	A			CCDC110_uc003ixv.3_Silent_p.S129S|CCDC110_uc011ckt.1_Silent_p.S166S	66	GBM-06-0744-TP	p.S166S	G	ATGTGTCCTCGGAATGTATCT	NM_152775	NP_689988	186381243	Q8TBZ0	CC110_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	574	-	A	A		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	Silent	166						
CCDC110	0	broad.mit.edu	GRCh37	4	186382220	186382220	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01	TCGA-14-1450-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307588.3:c.331C>T	p.Arg111Cys	p.R111C	ENST00000307588	NM_152775.3	111	Cgc/Tgc	0	A:0.0002		1			A	R/C	uc003ixu.3	protein_coding	YES	CCDS3843.1			331/2502									central_nervous_system(1)	1	c.(331-333)CGC>TGC			hmmpanther:PTHR32083,hmmpanther:PTHR32083:SF25	coiled-coil domain containing 110 isoform a			A:0	ENSP00000306776		7-May	2.47E-05	9.62E-05				3.00E-05			rs376940059,COSM3409201	7-May	.		ENST00000307588	Transcript				nucleus		ENSG00000168491	g.chr4:186382220G>A	28504			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CC110_HUMAN&rb=1&re=474&var=R111C	NA	getma.org/?cm=var&var=hg19,4,186382220,G,A&fts=all	R111C	--	--	1																																		CCDC110_uc003ixv.3_Intron|CCDC110_uc011ckt.1_Missense_Mutation_p.R111C	0,1	1		benign(0.002)	p.R111C	NM_152775	NP_689988		tolerated(0.09)	0,1	CC110_HUMAN	CCDC110	HGNC	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)			5	407	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	UPI0000070BFC	111					SNV	CCDC110,missense_variant,p.Arg111Cys,ENST00000307588,NM_152775.3;CCDC110,missense_variant,p.Arg111Cys,ENST00000510617,;CCDC110,missense_variant,p.Arg111Cys,ENST00000506876,;CCDC110,intron_variant,,ENST00000393540,NM_001145411.1;CCDC110,non_coding_transcript_exon_variant,,ENST00000507501,;CCDC110,non_coding_transcript_exon_variant,,ENST00000506962,;CCDC110,3_prime_UTR_variant,,ENST00000510481,;CCDC110,downstream_gene_variant,,ENST00000504020,;CCDC110,upstream_gene_variant,,ENST00000508538,;	uc003ixu.3	c.331C>T	407/2898	1	1			c.331C>T						4	SNP	c.(331-333)CGC>TGC	62	62			central_nervous_system(1)	1	Broad	coiled-coil domain containing 110 isoform a			186382220		0.338	ENSG00000168491	2696	g.chr4:186382220G>A		nucleus								63.443768	KEEP	16	15	-1	45	56	16	15	-1	69.461701	45	56	0.254545	1	0	0	0	0	1	0	0	0	--	--		0	A			CCDC110_uc003ixv.3_Intron|CCDC110_uc011ckt.1_Missense_Mutation_p.R111C	145	GBM-14-1450-TP	p.R111C	G	TTTTCAATGCGCGTGCCAAAC	NM_152775	NP_689988	186382220	Q8TBZ0	CC110_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	5	407	-	A	A		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	Missense_Mutation	111						
CCDC110	256309		GRCh37	4	186380647	186380647	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0165-01	TCGA-06-0165-01																				ENST00000307588.3:c.1094G>A	p.Gly365Asp	p.G365D	ENST00000307588	NM_152775.3	365	gGc/gAc	0																																																																																																																																																																																																																																												
CCDC112	153733	broad.mit.edu	GRCh37	5	114607281	114607281	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01	TCGA-06-0173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379611.5:c.961G>A	p.Glu321Lys	p.E321K	ENST00000379611	NM_001040440.2	321	Gaa/Aaa	0			1			T	E/K	uc003kqy.2	protein_coding		CCDS4117.1			712/1341										0	c.(712-714)GAA>AAA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21549:SF0,hmmpanther:PTHR21549	coiled-coil domain containing 112 isoform 2				ENSP00000378925		10-Jul									COSM2150372	10-Jul	.		ENST00000395557	Transcript						ENSG00000164221	g.chr5:114607281C>T	28599			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=CC112_HUMAN&rb=238&re=437&var=E238K	NA	getma.org/?cm=var&var=hg19,5,114607281,C,T&fts=all	E238K	--	--	1																																		CCDC112_uc003kqz.2_Missense_Mutation_p.E321K|CCDC112_uc003kra.2_Missense_Mutation_p.E321K	1			benign(0.036)	p.E238K	NM_152549	NP_689762		tolerated(0.67)	1	CC112_HUMAN	CCDC112	HGNC	Q8NEF3	CC112_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)			7	1225	-		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	UPI000013E36A	238			Potential.		SNV	CCDC112,missense_variant,p.Glu321Lys,ENST00000379611,NM_001040440.2;CCDC112,missense_variant,p.Glu238Lys,ENST00000512261,;CCDC112,missense_variant,p.Glu238Lys,ENST00000506442,;CCDC112,missense_variant,p.Glu238Lys,ENST00000395557,NM_152549.2;CCDC112,downstream_gene_variant,,ENST00000503027,;CCDC112,non_coding_transcript_exon_variant,,ENST00000502975,;CCDC112,downstream_gene_variant,,ENST00000513730,;	uc003kqy.2	c.712G>A	1203/2069	1	1			c.712G>A						5	SNP	c.(712-714)GAA>AAA	13	13				0	Broad	coiled-coil domain containing 112 isoform 2			114607281		0.219	ENSG00000164221	2698	g.chr5:114607281C>T										79.519679	KEEP	16	22	-1	64	76	16	22	-1	90.127316	64	76	0.219178	1	0	0	0	0	1	0	0	0	--	--		0	T			CCDC112_uc003kqz.2_Missense_Mutation_p.E321K|CCDC112_uc003kra.2_Missense_Mutation_p.E321K	36	GBM-06-0173-TP	p.E238K	C	TTGAAAATTTCCTCCCTTTTT	NM_152549	NP_689762	114607281	Q8NEF3	CC112_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)	7	1225	-	T	T		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	Missense_Mutation	238			Potential.			
CCDC114	93233	broad.mit.edu	GRCh37	19	48805978	48805978	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01	TCGA-06-5415-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315396.7:c.1102C>T	p.Arg368Trp	p.R368W	ENST00000315396	NM_144577.3	368	Cgg/Tgg	0	A:0.0002		1			A	R/W	uc002pir.2	protein_coding	YES	CCDS12714.2			1102/2013									ovary(1)	1	c.(1102-1104)CGG>TGG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21694:SF18,hmmpanther:PTHR21694	coiled-coil domain containing 114 isoform 2			A:0	ENSP00000318429		14-Oct	1.65E-05					1.55E-05		6.18E-05	rs200690633,COSM1247421,COSM1247420	14-Oct	.		ENST00000315396	Transcript	1					ENSG00000105479	g.chr19:48805978G>A	26560			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=CC114_HUMAN&rb=311&re=669&var=R368W	NA	getma.org/?cm=var&var=hg19,19,48805978,G,A&fts=all	R368W	--	--	1																																		CCDC114_uc002piq.2_Missense_Mutation_p.R177W|CCDC114_uc002pio.2_Missense_Mutation_p.R405W|CCDC114_uc002pis.1_Missense_Mutation_p.R48W|CCDC114_uc002pit.1_Missense_Mutation_p.R405W	0,1,1	1		probably_damaging(0.97)	p.R368W	NM_144577	NP_653178		deleterious(0.01)	0,1,1	CC114_HUMAN	CCDC114	HGNC	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)			10	1785	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	UPI0000EE7B5F	368			Potential.		SNV	CCDC114,missense_variant,p.Arg368Trp,ENST00000315396,NM_144577.3;CCDC114,downstream_gene_variant,,ENST00000504608,;CCDC114,non_coding_transcript_exon_variant,,ENST00000474199,;CCDC114,non_coding_transcript_exon_variant,,ENST00000497273,;	uc002pir.2	c.1102C>T	1785/3215	1	1			c.1102C>T						19	SNP	c.(1102-1104)CGG>TGG	55	55			ovary(1)	1	Broad	coiled-coil domain containing 114 isoform 2			48805978		0.647	ENSG00000105479	2700	g.chr19:48805978G>A										-21.12701	KEEP	3	2	-1	50	81	3	2	-1	7.9637	50	81	0.03937	1	0	0	0	0	1	0	0	0	--	--		0	A			CCDC114_uc002piq.2_Missense_Mutation_p.R177W|CCDC114_uc002pio.2_Missense_Mutation_p.R405W|CCDC114_uc002pis.1_Missense_Mutation_p.R48W|CCDC114_uc002pit.1_Missense_Mutation_p.R405W	98	GBM-06-5415-TP	p.R368W	G	AGCTGTCCCCGCACATCCTGG	NM_144577	NP_653178	48805978	Q96M63	CC114_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	10	1785	-	A	A		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	Missense_Mutation	368			Potential.			
CCDC114	0	broad.mit.edu	GRCh37	19	48807021	48807021	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1833-01	TCGA-27-1833-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315396.7:c.763G>A	p.Val255Ile	p.V255I	ENST00000315396	NM_144577.3	255	Gtc/Atc	0		T:0	1	T:0		T	V/I	uc002pir.2	protein_coding	YES	CCDS12714.2			763/2013									ovary(1)	1	c.(763-765)GTC>ATC			hmmpanther:PTHR21694:SF18,hmmpanther:PTHR21694	coiled-coil domain containing 114 isoform 2		T:0		ENSP00000318429	T:0	14-Aug	0.000239			0.00208				0.000764	rs571330368,COSM3107192,COSM3107191	14-Aug	common_variant		ENST00000315396	Transcript	1	T:0.0002				ENSG00000105479	g.chr19:48807021C>T	26560			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=CC114_HUMAN&rb=146&re=309&var=V255I	NA	getma.org/?cm=var&var=hg19,19,48807021,C,T&fts=all	V255I	--	--	1																																		CCDC114_uc002piq.2_Missense_Mutation_p.V64I|CCDC114_uc002pio.2_Missense_Mutation_p.V292I|CCDC114_uc002pis.1_5'Flank|CCDC114_uc002pit.1_Missense_Mutation_p.V292I|CCDC114_uc002piu.1_Missense_Mutation_p.V292I	0,1,1	1		benign(0.031)	p.V255I	NM_144577	NP_653178	T:0.001	tolerated(0.07)	0,1,1	CC114_HUMAN	CCDC114	HGNC	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)			8	1446	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	UPI0000EE7B5F	255					SNV	CCDC114,missense_variant,p.Val255Ile,ENST00000315396,NM_144577.3;CCDC114,downstream_gene_variant,,ENST00000504608,;CCDC114,non_coding_transcript_exon_variant,,ENST00000474199,;CCDC114,upstream_gene_variant,,ENST00000497273,;	uc002pir.2	c.763G>A	1446/3215	1	1			c.763G>A						19	SNP	c.(763-765)GTC>ATC	7	7			ovary(1)	1	Broad	coiled-coil domain containing 114 isoform 2			48807021		0.632	ENSG00000105479	2700	g.chr19:48807021C>T										228.318145	KEEP	61	50	-1	113	170	61	50	-1	238.390965	113	170	0.302083	1	0	0	0	0	1	0	0	0	--	--		0	T			CCDC114_uc002piq.2_Missense_Mutation_p.V64I|CCDC114_uc002pio.2_Missense_Mutation_p.V292I|CCDC114_uc002pis.1_5'Flank|CCDC114_uc002pit.1_Missense_Mutation_p.V292I|CCDC114_uc002piu.1_Missense_Mutation_p.V292I	192	GBM-27-1833-TP	p.V255I	C	GTCTTCCAGACGCCCTCGGCC	NM_144577	NP_653178	48807021	Q96M63	CC114_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	8	1446	-	T	T		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	Missense_Mutation	255						
CCDC12	0	broad.mit.edu	GRCh37	3	46965117	46965117	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1837-01	TCGA-27-1837-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000425441.1:c.325G>A	p.Glu109Lys	p.E109K	ENST00000425441	NM_144716.5	109	Gag/Aag	0		T:0	1	T:0		T	E/K	uc011baq.1	protein_coding	YES	CCDS63612.1			325/540										0	c.(325-327)GAG>AAG			hmmpanther:PTHR31551,Pfam_domain:PF08315	coiled-coil domain containing 12		T:0		ENSP00000416263	T:0	9-Jun	4.94E-05			0.000751				0.000124	rs566710688,COSM3408696,COSM3408695	9-Jun	common_variant		ENST00000425441	Transcript		T:0.0002				ENSG00000160799	g.chr3:46965117C>T	28332			MODERATE		2	medium	getma.org/?cm=msa&ty=f&p=CCD12_HUMAN&rb=9&re=143&var=E96K	NA	getma.org/?cm=var&var=hg19,3,46965117,C,T&fts=all	E96K	--	--	1																																OREG0015545	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	CCDC12_uc003cqo.2_Missense_Mutation_p.E109K	0,1,1	1		possibly_damaging(0.674)	p.E109K	NM_144716	NP_653317	T:0.001	tolerated(0.39)	0,1,1		CCDC12	HGNC	Q8WUD4	CCD12_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)	S4R331_HUMAN,J3KR35_HUMAN,C9JUN5_HUMAN		4	334	-		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)	UPI000042234D	96					SNV	CCDC12,missense_variant,p.Glu109Lys,ENST00000425441,NM_144716.5;CCDC12,missense_variant,p.Glu109Lys,ENST00000292314,NM_001277074.1;CCDC12,missense_variant,p.Glu96Lys,ENST00000546280,;CCDC12,downstream_gene_variant,,ENST00000446836,;CCDC12,downstream_gene_variant,,ENST00000605875,;CCDC12,non_coding_transcript_exon_variant,,ENST00000605358,;CCDC12,non_coding_transcript_exon_variant,,ENST00000604367,;CCDC12,non_coding_transcript_exon_variant,,ENST00000488069,;CCDC12,non_coding_transcript_exon_variant,,ENST00000603885,;CCDC12,downstream_gene_variant,,ENST00000494655,;CCDC12,downstream_gene_variant,,ENST00000604181,;CCDC12,downstream_gene_variant,,ENST00000604164,;	uc011baq.1	c.325G>A	551/1097	1	1			c.325G>A						3	SNP	c.(325-327)GAG>AAG	5	5				0	Broad	coiled-coil domain containing 12			46965117		0.552	ENSG00000160799	2704	g.chr3:46965117C>T										22.196858	KEEP	5	5	-1	4	8	5	5	-1	22.300099	4	8	0.421053	1	0	0	0	0	1	0	0	0	--	--		0	T	OREG0015545	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	CCDC12_uc003cqo.2_Missense_Mutation_p.E109K	196	GBM-27-1837-TP	p.E109K	C	ATGACGGGCTCGGGCTTGGCG	NM_144716	NP_653317	46965117	Q8WUD4	CCD12_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)	4	334	-	T	T		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)	Missense_Mutation	96						
CCDC120	90060	broad.mit.edu	GRCh37	X	48920041	48920041	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs147084360		TCGA-06-5417-01	TCGA-06-5417-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000422185.2:c.92G>A	p.Arg31His	p.R31H	ENST00000422185	NM_001163322.2	31	cGt/cAt	0	A:0		1			A	R/H	uc010nik.2	protein_coding		CCDS14316.1			92/1893									pancreas(1)	1	c.(91-93)CGT>CAT			Pfam_domain:PF11819,hmmpanther:PTHR16093,hmmpanther:PTHR16093:SF5	coiled-coil domain containing 120 isoform 3			A:0.0003	ENSP00000474761		10-Apr	0.000437				0.00323	0.000462	0.00341		rs147084360,COSM1122327	10-Apr	common_variant		ENST00000496529	Transcript					protein binding	ENSG00000147144	g.chrX:48920041G>A	28910			MODERATE		0.995	low	getma.org/?cm=msa&ty=f&p=CC120_HUMAN&rb=1&re=142&var=R31H	NA	getma.org/?cm=var&var=hg19,X,48920041,G,A&fts=all	R31H	--	--	1																																		CCDC120_uc011mmq.1_Missense_Mutation_p.R19H|CCDC120_uc004dmf.2_Missense_Mutation_p.R31H|CCDC120_uc010nil.2_Missense_Mutation_p.R31H|CCDC120_uc011mmr.1_Missense_Mutation_p.R31H|CCDC120_uc011mms.1_Missense_Mutation_p.R19H|CCDC120_uc004dmg.1_Silent_p.A109A	0,1			probably_damaging(0.919)	p.R31H	NM_033626	NP_296375		deleterious(0)	0,1	CC120_HUMAN	CCDC120	HGNC	Q96HB5	CC120_HUMAN			A8K5Q5_HUMAN		4	599	+			UPI000006FB7D	31					SNV	CCDC120,missense_variant,p.Arg31His,ENST00000376396,NM_033626.3,NM_001271835.1;CCDC120,missense_variant,p.Arg31His,ENST00000422185,NM_001163322.2,NM_001163321.2,NM_001163323.2;CCDC120,missense_variant,p.Arg31His,ENST00000597275,NM_001271836.1;CCDC120,missense_variant,p.Arg31His,ENST00000496529,;CCDC120,missense_variant,p.Arg19His,ENST00000536628,;CCDC120,missense_variant,p.Arg66His,ENST00000603986,;CCDC120,synonymous_variant,p.=,ENST00000603906,;CCDC120,non_coding_transcript_exon_variant,,ENST00000482476,;CCDC120,upstream_gene_variant,,ENST00000603745,;	uc010nik.2	c.92G>A	387/2415	1	1			c.92G>A						23	SNP	c.(91-93)CGT>CAT	59	59			pancreas(1)	1	Broad	coiled-coil domain containing 120 isoform 3			48920041		0.647	ENSG00000147144	2705	g.chrX:48920041G>A			protein binding							31.355267	KEEP	7	7	-1	14	20	7	7	-1	32.715512	14	20	0.309524	1	0	0	0	0	1	0	0	0	--	--		0	A			CCDC120_uc011mmq.1_Missense_Mutation_p.R19H|CCDC120_uc004dmf.2_Missense_Mutation_p.R31H|CCDC120_uc010nil.2_Missense_Mutation_p.R31H|CCDC120_uc011mmr.1_Missense_Mutation_p.R31H|CCDC120_uc011mms.1_Missense_Mutation_p.R19H|CCDC120_uc004dmg.1_Silent_p.A109A	99	GBM-06-5417-TP	p.R31H	G	AAGTCAGAGCGTCTGCGGGGG	NM_033626	NP_296375	48920041	Q96HB5	CC120_HUMAN	0			4	599	+	A	A			Missense_Mutation	31						
CCDC120	0	broad.mit.edu	GRCh37	X	48923077	48923077	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs148446381		TCGA-27-1833-01	TCGA-27-1833-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000496529.2:c.775C>T	p.Arg259Trp	p.R259W	ENST00000496529		259	Cgg/Tgg	0	T:0		1			T	R/W	uc010nik.2	protein_coding		CCDS14316.1			775/1893									pancreas(1)	1	c.(775-777)CGG>TGG			hmmpanther:PTHR16093,hmmpanther:PTHR16093:SF5	coiled-coil domain containing 120 isoform 3			T:0.0001	ENSP00000474761		10-Aug	4.94E-05					0.000152			rs148446381,COSM3406439	10-Aug	.		ENST00000496529	Transcript					protein binding	ENSG00000147144	g.chrX:48923077C>T	28910			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=CC120_HUMAN&rb=151&re=623&var=R259W	NA	getma.org/?cm=var&var=hg19,X,48923077,C,T&fts=all	R259W	--	--	1																																		CCDC120_uc011mmq.1_Missense_Mutation_p.R247W|CCDC120_uc004dmf.2_Missense_Mutation_p.R259W|CCDC120_uc010nil.2_Missense_Mutation_p.R259W|CCDC120_uc011mmr.1_Missense_Mutation_p.R259W|CCDC120_uc011mms.1_Missense_Mutation_p.R247W	0,1			probably_damaging(0.999)	p.R259W	NM_033626	NP_296375		deleterious(0)	0,1	CC120_HUMAN	CCDC120	HGNC	Q96HB5	CC120_HUMAN			A8K5Q5_HUMAN		8	1282	+			UPI000006FB7D	259					SNV	CCDC120,missense_variant,p.Arg259Trp,ENST00000376396,NM_033626.3,NM_001271835.1;CCDC120,missense_variant,p.Arg259Trp,ENST00000422185,NM_001163322.2,NM_001163321.2,NM_001163323.2;CCDC120,missense_variant,p.Arg259Trp,ENST00000597275,NM_001271836.1;CCDC120,missense_variant,p.Arg259Trp,ENST00000496529,;CCDC120,missense_variant,p.Arg247Trp,ENST00000536628,;CCDC120,missense_variant,p.Arg294Trp,ENST00000603986,;CCDC120,3_prime_UTR_variant,,ENST00000603906,;CCDC120,upstream_gene_variant,,ENST00000603745,;CCDC120,downstream_gene_variant,,ENST00000482476,;	uc010nik.2	c.775C>T	1070/2415	1	1			c.775C>T						23	SNP	c.(775-777)CGG>TGG	11	11			pancreas(1)	1	Broad	coiled-coil domain containing 120 isoform 3			48923077		0.642	ENSG00000147144	2705	g.chrX:48923077C>T			protein binding							62.372846	KEEP	9	14	-1	12	19	9	14	-1	62.69704	12	19	0.415094	1	0	0	0	0	1	0	0	0	--	--		0	T			CCDC120_uc011mmq.1_Missense_Mutation_p.R247W|CCDC120_uc004dmf.2_Missense_Mutation_p.R259W|CCDC120_uc010nil.2_Missense_Mutation_p.R259W|CCDC120_uc011mmr.1_Missense_Mutation_p.R259W|CCDC120_uc011mms.1_Missense_Mutation_p.R247W	192	GBM-27-1833-TP	p.R259W	C	GAGCCCTGAGCGGCGAACCCC	NM_033626	NP_296375	48923077	Q96HB5	CC120_HUMAN	0			8	1282	+	T	T			Missense_Mutation	259						
CCDC124	0	broad.mit.edu	GRCh37	19	18054397	18054397	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000445755.2:c.545C>T	p.Pro182Leu	p.P182L	ENST00000445755	NM_001136203.1	182	cCg/cTg	0			1			T	P/L	uc010xpz.1	protein_coding		CCDS12369.1			545/672										0	c.(544-546)CCG>CTG			Gene3D:1.10.30.10,Pfam_domain:PF06244,hmmpanther:PTHR21680,hmmpanther:PTHR21680:SF0	coiled-coil domain containing 124				ENSP00000408730		5-May									COSM3403940	5-May	.		ENST00000445755	Transcript					DNA binding	ENSG00000007080	g.chr19:18054397C>T	25171			MODERATE		3.42	medium	getma.org/?cm=msa&ty=f&p=CC124_HUMAN&rb=96&re=215&var=P182L	NA	getma.org/?cm=var&var=hg19,19,18054397,C,T&fts=all	P182L	--	--	1																																		CCDC124_uc002nhs.2_Missense_Mutation_p.P182L	1			probably_damaging(1)	p.P182L	NM_001136203	NP_001129675		deleterious(0)	1	CC124_HUMAN	CCDC124	HGNC	Q96CT7	CC124_HUMAN			M0R2F5_HUMAN		5	590	+			UPI000006D46F	182					SNV	CCDC124,missense_variant,p.Pro182Leu,ENST00000597436,NM_138442.3;CCDC124,missense_variant,p.Pro182Leu,ENST00000445755,NM_001136203.1;CCDC124,downstream_gene_variant,,ENST00000596123,;	uc010xpz.1	c.545C>T	589/938	2	2			c.545C>T						19	SNP	c.(544-546)CCG>CTG	17	17				0	Broad	coiled-coil domain containing 124			18054397		0.637	ENSG00000007080	2709	g.chr19:18054397C>T			DNA binding							55.744228	KEEP	10	16	-1	30	36	10	16	-1	59.166284	30	36	0.276316	1	0	0	0	0	1	0	0	0	--	--		0	T			CCDC124_uc002nhs.2_Missense_Mutation_p.P182L	249	GBM-32-5222-TP	p.P182L	C	GCCCAGCTGCCGCGGCTCAAA	NM_001136203	NP_001129675	18054397	Q96CT7	CC124_HUMAN	0			5	590	+	T	T			Missense_Mutation	182						
CCDC125	0	broad.mit.edu	GRCh37	5	68590723	68590723	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0787-01	TCGA-14-0787-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396496.2:c.821C>T	p.Ala274Val	p.A274V	ENST00000396496		274	gCg/gTg	0			1			A	A/V	uc003jvv.1	protein_coding	YES	CCDS4000.1			821/1536										0	c.(820-822)GCG>GTG				coiled-coil domain containing 125				ENSP00000379754		12-Sep	8.24E-06					1.50E-05			rs745493733,COSM483000	12-Sep	.		ENST00000396496	Transcript				cytoplasm		ENSG00000183323	g.chr5:68590723G>A	28924			MODERATE		1.975	medium	getma.org/?cm=msa&ty=f&p=CC125_HUMAN&rb=180&re=509&var=A274V	NA	getma.org/?cm=var&var=hg19,5,68590723,G,A&fts=all	A274V	--	--	1																																		CCDC125_uc003jvx.1_Missense_Mutation_p.A273V|CCDC125_uc003jvy.1_RNA|CCDC125_uc003jvw.2_Missense_Mutation_p.A149V	0,1	1		benign(0.009)	p.A274V	NM_176816	NP_789786		deleterious(0)	0,1	CC125_HUMAN	CCDC125	HGNC	Q86Z20	CC125_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)			8	864	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	UPI00004572F8	274					SNV	CCDC125,missense_variant,p.Ala274Val,ENST00000396496,;CCDC125,missense_variant,p.Ala274Val,ENST00000396499,NM_176816.3;CCDC125,missense_variant,p.Ala149Val,ENST00000511257,;CCDC125,intron_variant,,ENST00000383374,;CCDC125,non_coding_transcript_exon_variant,,ENST00000460090,;	uc003jvv.1	c.821C>T	929/4198	2	2			c.821C>T						5	SNP	c.(820-822)GCG>GTG	48	48				0	Broad	coiled-coil domain containing 125			68590723		0.488	ENSG00000183323	2710	g.chr5:68590723G>A		cytoplasm								-64.378401	KEEP	1	4	-1	146	131	1	4	-1	7.557635	146	131	0.018182	1	0	0	0	0	1	0	0	0	--	--		0	A			CCDC125_uc003jvx.1_Missense_Mutation_p.A273V|CCDC125_uc003jvy.1_RNA|CCDC125_uc003jvw.2_Missense_Mutation_p.A149V	135	GBM-14-0787-TP	p.A274V	G	TCCGAGGACCGCAAGCTTTAA	NM_176816	NP_789786	68590723	Q86Z20	CC125_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)	8	864	-	A	A		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	Missense_Mutation	274						
CCDC129	0	broad.mit.edu	GRCh37	7	31692423	31692423	+	intron_variant	Intron	SNP	G	G	T	rs140998733	byFrequency	TCGA-06-0171-01	TCGA-06-0171-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000451887.2:c.3067+126G>T		p.*1023*	ENST00000451887	NM_001257968.1	1039		0			1			T	D/Y	uc003tcj.1	protein_coding		CCDS5435.2			3115/3135										0	c.(3115-3117)GAT>TAT			hmmpanther:PTHR17469,hmmpanther:PTHR17469:SF12	coiled-coil domain containing 129				ENSP00000384416		14/14									COSM2150305,COSM2150306	14/14	.		ENST00000407970	Transcript						ENSG00000180347	g.chr7:31692423G>T	27363			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=CC129_HUMAN&rb=1&re=1042&var=D1039Y	NA	getma.org/?cm=var&var=hg19,7,31692423,G,T&fts=all	D1039Y	--	--	1																																		CCDC129_uc011kad.1_Missense_Mutation_p.D1049Y|CCDC129_uc003tci.1_Missense_Mutation_p.D890Y|CCDC129_uc011kae.1_Intron|CCDC129_uc003tck.1_Missense_Mutation_p.D947Y	1,1			probably_damaging(0.935)	p.D1039Y	NM_194300	NP_919276		deleterious(0.01)	1,1	CC129_HUMAN	CCDC129	HGNC	Q6ZRS4	CC129_HUMAN			E7ERG9_HUMAN,E7EQ43_HUMAN,B8ZZ49_HUMAN		14	4108	+			UPI00015A2549	1039					SNV	CCDC129,missense_variant,p.Asp891Tyr,ENST00000319386,;CCDC129,missense_variant,p.Asp947Tyr,ENST00000409210,;CCDC129,missense_variant,p.Asp1039Tyr,ENST00000407970,NM_194300.3,NM_001257967.1;CCDC129,intron_variant,,ENST00000451887,NM_001257968.1;CCDC129,non_coding_transcript_exon_variant,,ENST00000463693,;	uc003tcj.1	c.3115G>T	3153/3269	1	1			c.3115G>T						7	SNP	c.(3115-3117)GAT>TAT	5	5				0	Broad	coiled-coil domain containing 129			31692423		0.438	ENSG00000180347	2713	g.chr7:31692423G>T										82.833823	KEEP	22	28	0.44	87	110	22	28	0.44	102.91123	87	110	0.187215	1	0	0	0	0	1	0	0	0	--	--		0	T			CCDC129_uc011kad.1_Missense_Mutation_p.D1049Y|CCDC129_uc003tci.1_Missense_Mutation_p.D890Y|CCDC129_uc011kae.1_Intron|CCDC129_uc003tck.1_Missense_Mutation_p.D947Y	35	GBM-06-0171-TP	p.D1039Y	G	TGGAGAAAAGGATGCAGATGT	NM_194300	NP_919276	31692423	Q6ZRS4	CC129_HUMAN	0			14	4108	+	T	T			Missense_Mutation	1039						
CCDC129	0	broad.mit.edu	GRCh37	7	31614192	31614192	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0877-01	TCGA-06-0877-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000451887.2:c.512T>C	p.Val171Ala	p.V171A	ENST00000451887	NM_001257968.1	171	gTg/gCg	0			1			C	V/A	uc003tcj.1	protein_coding		CCDS5435.2			434/3135										0	c.(433-435)GTG>GCG			Pfam_domain:PF14722,hmmpanther:PTHR17469,hmmpanther:PTHR17469:SF12	coiled-coil domain containing 129				ENSP00000384416		14-Jul									COSM2152204,COSM2152205	14-Jul	.		ENST00000407970	Transcript						ENSG00000180347	g.chr7:31614192T>C	27363			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=CC129_HUMAN&rb=1&re=1042&var=V145A	NA	getma.org/?cm=var&var=hg19,7,31614192,T,C&fts=all	V145A	--	--	1																																		CCDC129_uc011kad.1_Missense_Mutation_p.V155A|CCDC129_uc003tci.1_Missense_Mutation_p.V144A|CCDC129_uc011kae.1_Missense_Mutation_p.V171A|CCDC129_uc003tck.1_Missense_Mutation_p.V53A	1,1			probably_damaging(0.969)	p.V145A	NM_194300	NP_919276		deleterious(0.01)	1,1	CC129_HUMAN	CCDC129	HGNC	Q6ZRS4	CC129_HUMAN			E7ERG9_HUMAN,E7EQ43_HUMAN,B8ZZ49_HUMAN		7	1427	+			UPI00015A2549	145					SNV	CCDC129,missense_variant,p.Val145Ala,ENST00000319386,;CCDC129,missense_variant,p.Val53Ala,ENST00000409210,;CCDC129,missense_variant,p.Val171Ala,ENST00000451887,NM_001257968.1;CCDC129,missense_variant,p.Val145Ala,ENST00000407970,NM_194300.3,NM_001257967.1;CCDC129,missense_variant,p.Val145Ala,ENST00000454513,;CCDC129,missense_variant,p.Val145Ala,ENST00000456011,;CCDC129,downstream_gene_variant,,ENST00000409717,;CCDC129,non_coding_transcript_exon_variant,,ENST00000482748,;	uc003tcj.1	c.434T>C	472/3269	3	3			c.434T>C						7	SNP	c.(433-435)GTG>GCG	55	55				0	Broad	coiled-coil domain containing 129			31614192		0.443	ENSG00000180347	2713	g.chr7:31614192T>C										238.489687	KEEP	48	47	-1	138	120	48	47	-1	250.508914	138	120	0.289037	1	0	0	0	0	1	0	0	0	--	--		0	C			CCDC129_uc011kad.1_Missense_Mutation_p.V155A|CCDC129_uc003tci.1_Missense_Mutation_p.V144A|CCDC129_uc011kae.1_Missense_Mutation_p.V171A|CCDC129_uc003tck.1_Missense_Mutation_p.V53A	73	GBM-06-0877-TP	p.V145A	T	ATAGATCCAGTGGAGATTCTC	NM_194300	NP_919276	31614192	Q6ZRS4	CC129_HUMAN	0			7	1427	+	C	C			Missense_Mutation	145						
CCDC129	0	broad.mit.edu	GRCh37	7	31614260	31614260	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-14-1456-01	TCGA-14-1456-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000407970.3:c.502T>A	p.Phe168Ile	p.F168I	ENST00000407970	NM_194300.3	168	Ttc/Atc	0			1			A	F/I	uc003tcj.1	protein_coding		CCDS5435.2			502/3135										0	c.(502-504)TTC>ATC			Pfam_domain:PF14722,hmmpanther:PTHR17469,hmmpanther:PTHR17469:SF12	coiled-coil domain containing 129				ENSP00000384416		14-Jul									COSM3411985,COSM3411986	14-Jul	.		ENST00000407970	Transcript						ENSG00000180347	g.chr7:31614260T>A	27363			MODERATE		2.255	medium	getma.org/?cm=msa&ty=f&p=CC129_HUMAN&rb=1&re=1042&var=F168I	NA	getma.org/?cm=var&var=hg19,7,31614260,T,A&fts=all	F168I	--	--	1																																		CCDC129_uc011kad.1_Missense_Mutation_p.F178I|CCDC129_uc003tci.1_Missense_Mutation_p.F167I|CCDC129_uc011kae.1_Missense_Mutation_p.F194I|CCDC129_uc003tck.1_Missense_Mutation_p.F76I	1,1			probably_damaging(1)	p.F168I	NM_194300	NP_919276		deleterious(0)	1,1	CC129_HUMAN	CCDC129	HGNC	Q6ZRS4	CC129_HUMAN			E7ERG9_HUMAN,E7EQ43_HUMAN,B8ZZ49_HUMAN		7	1495	+			UPI00015A2549	168					SNV	CCDC129,missense_variant,p.Phe168Ile,ENST00000319386,;CCDC129,missense_variant,p.Phe76Ile,ENST00000409210,;CCDC129,missense_variant,p.Phe194Ile,ENST00000451887,NM_001257968.1;CCDC129,missense_variant,p.Phe168Ile,ENST00000407970,NM_194300.3,NM_001257967.1;CCDC129,missense_variant,p.Phe168Ile,ENST00000456011,;CCDC129,downstream_gene_variant,,ENST00000454513,;CCDC129,downstream_gene_variant,,ENST00000409717,;CCDC129,downstream_gene_variant,,ENST00000482748,;	uc003tcj.1	c.502T>A	540/3269	1	1			c.502T>A						7	SNP	c.(502-504)TTC>ATC	60	60				0	Broad	coiled-coil domain containing 129			31614260		0.478	ENSG00000180347	2713	g.chr7:31614260T>A										-1.457248	KEEP	4	10	-1	84	78	4	10	-1	27.923259	84	78	0.079755	1	0	0	0	0	1	0	0	0	--	--		0	A			CCDC129_uc011kad.1_Missense_Mutation_p.F178I|CCDC129_uc003tci.1_Missense_Mutation_p.F167I|CCDC129_uc011kae.1_Missense_Mutation_p.F194I|CCDC129_uc003tck.1_Missense_Mutation_p.F76I	146	GBM-14-1456-TP	p.F168I	T	CCCAGCCAGATTCCTTGGTTG	NM_194300	NP_919276	31614260	Q6ZRS4	CC129_HUMAN	0			7	1495	+	A	A			Missense_Mutation	168						
CCDC129	0	broad.mit.edu	GRCh37	7	31617703	31617703	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2629-01	TCGA-19-2629-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000407970.3:c.825G>A	p.Glu275=	p.E275=	ENST00000407970	NM_194300.3	275	gaG/gaA	0			1			A	E	uc003tcj.1	protein_coding		CCDS5435.2			825/3135										0	c.(823-825)GAG>GAA			hmmpanther:PTHR17469,hmmpanther:PTHR17469:SF12	coiled-coil domain containing 129				ENSP00000384416		14-Aug									COSM3411987	14-Aug	.		ENST00000407970	Transcript						ENSG00000180347	g.chr7:31617703G>A	27363			LOW								--	--	1																																		CCDC129_uc011kad.1_Silent_p.E285E|CCDC129_uc003tci.1_Intron|CCDC129_uc011kae.1_Silent_p.E301E|CCDC129_uc003tck.1_Silent_p.E183E	1				p.E275E	NM_194300	NP_919276			1	CC129_HUMAN	CCDC129	HGNC	Q6ZRS4	CC129_HUMAN			E7ERG9_HUMAN,E7EQ43_HUMAN,B8ZZ49_HUMAN		8	1818	+			UPI00015A2549	275					SNV	CCDC129,synonymous_variant,p.=,ENST00000409210,;CCDC129,synonymous_variant,p.=,ENST00000451887,NM_001257968.1;CCDC129,synonymous_variant,p.=,ENST00000407970,NM_194300.3,NM_001257967.1;CCDC129,intron_variant,,ENST00000319386,;CCDC129,downstream_gene_variant,,ENST00000454513,;CCDC129,downstream_gene_variant,,ENST00000409717,;CCDC129,downstream_gene_variant,,ENST00000456011,;CCDC129,downstream_gene_variant,,ENST00000482748,;	uc003tcj.1	c.825G>A	863/3269	1	1			c.825G>A						7	SNP	c.(823-825)GAG>GAA	52	52				0	Broad	coiled-coil domain containing 129			31617703		0.453	ENSG00000180347	2713	g.chr7:31617703G>A										5.705665	KEEP	2	5	-1	23	28	2	5	-1	14.284318	23	28	0.107143	1	0	0	0	0	0	0	1	0	--	--		0	A			CCDC129_uc011kad.1_Silent_p.E285E|CCDC129_uc003tci.1_Intron|CCDC129_uc011kae.1_Silent_p.E301E|CCDC129_uc003tck.1_Silent_p.E183E	166	GBM-19-2629-TP	p.E275E	G	AGGTATCAGAGTCCTTCAAGG	NM_194300	NP_919276	31617703	Q6ZRS4	CC129_HUMAN	0			8	1818	+	A	A			Silent	275						
CCDC129	0	broad.mit.edu	GRCh37	7	31682505	31682505	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5209-01	TCGA-28-5209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000407970.3:c.1521G>A	p.Leu507=	p.L507=	ENST00000407970	NM_194300.3	507	ctG/ctA	0			1			A	L	uc003tcj.1	protein_coding		CCDS5435.2			1521/3135										0	c.(1519-1521)CTG>CTA			hmmpanther:PTHR17469,hmmpanther:PTHR17469:SF12	coiled-coil domain containing 129				ENSP00000384416		14-Nov									COSM3411990,COSM3411991	14-Nov	.		ENST00000407970	Transcript						ENSG00000180347	g.chr7:31682505G>A	27363			LOW								--	--	1																																		CCDC129_uc011kad.1_Silent_p.L517L|CCDC129_uc003tci.1_Silent_p.L358L|CCDC129_uc011kae.1_Silent_p.L533L|CCDC129_uc003tck.1_Silent_p.L415L	1,1				p.L507L	NM_194300	NP_919276			1,1	CC129_HUMAN	CCDC129	HGNC	Q6ZRS4	CC129_HUMAN			E7ERG9_HUMAN,E7EQ43_HUMAN,B8ZZ49_HUMAN		11	2514	+			UPI00015A2549	507					SNV	CCDC129,synonymous_variant,p.=,ENST00000319386,;CCDC129,synonymous_variant,p.=,ENST00000409210,;CCDC129,synonymous_variant,p.=,ENST00000451887,NM_001257968.1;CCDC129,synonymous_variant,p.=,ENST00000407970,NM_194300.3,NM_001257967.1;	uc003tcj.1	c.1521G>A	1559/3269	2	2			c.1521G>A						7	SNP	c.(1519-1521)CTG>CTA	25	25				0	Broad	coiled-coil domain containing 129			31682505		0.532	ENSG00000180347	2713	g.chr7:31682505G>A										264.253813	KEEP	60	54	-1	132	138	60	54	-1	277.711434	132	138	0.296703	1	0	0	0	0	0	0	1	0	--	--		0	A			CCDC129_uc011kad.1_Silent_p.L517L|CCDC129_uc003tci.1_Silent_p.L358L|CCDC129_uc011kae.1_Silent_p.L533L|CCDC129_uc003tck.1_Silent_p.L415L	218	GBM-28-5209-TP	p.L507L	G	AAGAGTTTCTGCTTGAGGCCA	NM_194300	NP_919276	31682505	Q6ZRS4	CC129_HUMAN	0			11	2514	+	A	A			Silent	507						
CCDC132	0	broad.mit.edu	GRCh37	7	92886757	92886757	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0210-01	TCGA-06-0210-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305866.5:c.403A>G	p.Ile135Val	p.I135V	ENST00000305866	NM_017667.3	135	Atc/Gtc	0			1			G	I/V	uc003umo.2	protein_coding	YES	CCDS43617.1			403/2895										0	c.(403-405)ATC>GTC			hmmpanther:PTHR13258,Pfam_domain:PF10475	coiled-coil domain containing 132 isoform a				ENSP00000307666		28-Jun	1.65E-05			0.000116		1.51E-05			rs769084619,COSM2150702,COSM2150701	28-Jun	.		ENST00000305866	Transcript						ENSG00000004766	g.chr7:92886757A>G	25956			MODERATE		0.965	low	getma.org/?cm=msa&ty=f&p=CC132_HUMAN&rb=54&re=345&var=I135V	NA	getma.org/?cm=var&var=hg19,7,92886757,A,G&fts=all	I135V	--	--	1																																		CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.I105V|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Intron|CCDC132_uc003umn.2_Missense_Mutation_p.I135V	0,1,1	1		benign(0.336)	p.I135V	NM_017667	NP_060137		tolerated(0.42)	0,1,1	CC132_HUMAN	CCDC132	HGNC	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		A7MD03_HUMAN		6	531	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		UPI000015F998	135					SNV	CCDC132,missense_variant,p.Ile105Val,ENST00000544910,NM_001257998.1;CCDC132,missense_variant,p.Ile135Val,ENST00000305866,NM_017667.3;CCDC132,missense_variant,p.Ile135Val,ENST00000251739,NM_024553.2;CCDC132,missense_variant,p.Ile134Val,ENST00000458530,;CCDC132,5_prime_UTR_variant,,ENST00000541136,;CCDC132,5_prime_UTR_variant,,ENST00000317751,;CCDC132,intron_variant,,ENST00000535481,;CCDC132,upstream_gene_variant,,ENST00000458707,;CCDC132,3_prime_UTR_variant,,ENST00000441602,;CCDC132,3_prime_UTR_variant,,ENST00000436177,;CCDC132,3_prime_UTR_variant,,ENST00000438395,;CCDC132,non_coding_transcript_exon_variant,,ENST00000477935,;CCDC132,non_coding_transcript_exon_variant,,ENST00000485994,;CCDC132,non_coding_transcript_exon_variant,,ENST00000476413,;CCDC132,upstream_gene_variant,,ENST00000471188,;CCDC132,upstream_gene_variant,,ENST00000495039,;	uc003umo.2	c.403A>G	531/3613	3	3			c.403A>G						7	SNP	c.(403-405)ATC>GTC	4	4				0	Broad	coiled-coil domain containing 132 isoform a			92886757		0.308	ENSG00000004766	2716	g.chr7:92886757A>G										23.246201	KEEP	7	6	-1	27	28	7	6	-1	28.274103	27	28	0.176471	1	0	0	0	0	1	0	0	0	--	--		0	G			CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.I105V|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Intron|CCDC132_uc003umn.2_Missense_Mutation_p.I135V	47	GBM-06-0210-TP	p.I135V	A	AGCTGCTGTTATCTGTACAAA	NM_017667	NP_060137	92886757	Q96JG6	CC132_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.000302)		6	531	+	G	G	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		Missense_Mutation	135						
CCDC132	0	broad.mit.edu	GRCh37	7	92985271	92985271	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-26-5132-01	TCGA-26-5132-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305866.5:c.2654T>C	p.Leu885Ser	p.L885S	ENST00000305866	NM_017667.3	885	tTa/tCa	0			1			C	L/S	uc003umo.2	protein_coding	YES	CCDS43617.1			2654/2895										0	c.(2653-2655)TTA>TCA			hmmpanther:PTHR13258,Pfam_domain:PF10474	coiled-coil domain containing 132 isoform a				ENSP00000307666		27/28									COSM2156924	27/28	.		ENST00000305866	Transcript						ENSG00000004766	g.chr7:92985271T>C	25956			MODERATE		2.25	medium	getma.org/?cm=msa&ty=f&p=CC132_HUMAN&rb=723&re=958&var=L885S	NA	getma.org/?cm=var&var=hg19,7,92985271,T,C&fts=all	L885S	--	--	1																																		CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.L855S|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.L605S	1	1		probably_damaging(0.922)	p.L885S	NM_017667	NP_060137		deleterious(0.01)	1	CC132_HUMAN	CCDC132	HGNC	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		A7MD03_HUMAN		27	2782	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		UPI000015F998	885					SNV	CCDC132,missense_variant,p.Leu855Ser,ENST00000544910,NM_001257998.1;CCDC132,missense_variant,p.Leu885Ser,ENST00000305866,NM_017667.3;CCDC132,missense_variant,p.Leu605Ser,ENST00000535481,;CCDC132,missense_variant,p.Leu110Ser,ENST00000443443,;CCDC132,3_prime_UTR_variant,,ENST00000541136,;CCDC132,non_coding_transcript_exon_variant,,ENST00000474412,;CCDC132,3_prime_UTR_variant,,ENST00000441602,;CCDC132,non_coding_transcript_exon_variant,,ENST00000471188,;	uc003umo.2	c.2654T>C	2782/3613	3	3			c.2654T>C						7	SNP	c.(2653-2655)TTA>TCA	13	13				0	Broad	coiled-coil domain containing 132 isoform a			92985271		0.303	ENSG00000004766	2716	g.chr7:92985271T>C										134.194269	KEEP	19	25	-1	56	62	19	25	-1	139.893566	56	62	0.288732	1	0	0	0	0	1	0	0	0	--	--		0	C			CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.L855S|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.L605S	181	GBM-26-5132-TP	p.L885S	T	CAACAGTTTTTAATGAAACTT	NM_017667	NP_060137	92985271	Q96JG6	CC132_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.000302)		27	2782	+	C	C	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		Missense_Mutation	885						
CCDC132	0	broad.mit.edu	GRCh37	7	92932809	92932809	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-6191-01	TCGA-76-6191-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305866.5:c.1399G>C	p.Glu467Gln	p.E467Q	ENST00000305866	NM_017667.3	467	Gag/Cag	0			1			C	E/Q	uc003umo.2	protein_coding	YES	CCDS43617.1			1399/2895										0	c.(1399-1401)GAG>CAG			hmmpanther:PTHR13258	coiled-coil domain containing 132 isoform a				ENSP00000307666		17/28										17/28	.		ENST00000305866	Transcript						ENSG00000004766	g.chr7:92932809G>C	25956			MODERATE		2.54	medium	getma.org/?cm=msa&ty=f&p=CC132_HUMAN&rb=346&re=545&var=E467Q	NA	getma.org/?cm=var&var=hg19,7,92932809,G,C&fts=all	E467Q	--	--	1																																		CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.E437Q|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.E187Q		1		probably_damaging(1)	p.E467Q	NM_017667	NP_060137		deleterious(0.01)		CC132_HUMAN	CCDC132	HGNC	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		A7MD03_HUMAN		17	1527	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		UPI000015F998	467					SNV	CCDC132,missense_variant,p.Glu437Gln,ENST00000544910,NM_001257998.1;CCDC132,missense_variant,p.Glu467Gln,ENST00000305866,NM_017667.3;CCDC132,missense_variant,p.Glu278Gln,ENST00000541136,;CCDC132,missense_variant,p.Glu187Gln,ENST00000535481,;CCDC132,missense_variant,p.Glu198Gln,ENST00000317751,;CCDC132,missense_variant,p.Glu254Gln,ENST00000458707,;CCDC132,non_coding_transcript_exon_variant,,ENST00000477572,;CCDC132,3_prime_UTR_variant,,ENST00000441602,;CCDC132,non_coding_transcript_exon_variant,,ENST00000471188,;	uc003umo.2	c.1399G>C	1527/3613	3	3			c.1399G>C						7	SNP	c.(1399-1401)GAG>CAG	62	62				0	Broad	coiled-coil domain containing 132 isoform a			92932809		0.343	ENSG00000004766	2716	g.chr7:92932809G>C										98.312912	KEEP	21	24	-1	83	64	21	24	-1	109.826122	83	64	0.220126	1	0	0	0	0	1	0	0	0	--	--		0	C			CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.E437Q|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.E187Q	274	GBM-76-6191-TP	p.E467Q	G	CTTAGAGAATGAGACTTGGGA	NM_017667	NP_060137	92932809	Q96JG6	CC132_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.000302)		17	1527	+	C	C	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		Missense_Mutation	467						
CCDC136	64753	broad.mit.edu	GRCh37	7	128434467	128434469	+	inframe_deletion	In_Frame_Del	DEL	GAA	GAA	-			TCGA-06-0645-01	TCGA-06-0645-01	GAA	GAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297788.4:c.94_96del	p.Glu32del	p.E32del	ENST00000297788	NM_022742.4	28	GAA/-	0	-:0.0116		1			-	E/-	uc003vnv.1	protein_coding	YES	CCDS47704.1			82-84/3465									ovary(2)	2	c.(82-84)GAAdel			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18889:SF9,hmmpanther:PTHR18889	coiled-coil domain containing 136			-:0.01	ENSP00000297788		18-Feb	0.000136		0.00216			0.000302			rs760625719	18-Feb	common_variant		ENST00000297788	Transcript				integral to membrane	protein binding	ENSG00000128596	g.chr7:128434467_128434469delGAA	22225	12		MODERATE								--	--	1																																		CCDC136_uc003vnu.1_In_Frame_Del_p.E82del|CCDC136_uc003vnw.1_In_Frame_Del_p.E32del		1			p.E32del	NM_022742	NP_073579				CC136_HUMAN	CCDC136	HGNC	Q96JN2	CC136_HUMAN			C9JAD8_HUMAN,C9J884_HUMAN,C9IYI5_HUMAN		2	449_451	+			UPI0000E445DE	32			Glu-rich.		deletion	CCDC136,inframe_deletion,p.Glu32del,ENST00000297788,NM_022742.4;CCDC136,inframe_deletion,p.Glu32del,ENST00000487361,;CCDC136,inframe_deletion,p.Glu82del,ENST00000464832,;CCDC136,inframe_deletion,p.Glu82del,ENST00000378685,NM_001201372.1;CCDC136,inframe_deletion,p.Glu32del,ENST00000485998,;CCDC136,inframe_deletion,p.Glu32del,ENST00000459946,;CCDC136,inframe_deletion,p.Glu32del,ENST00000488925,;CCDC136,downstream_gene_variant,,ENST00000472049,;	uc003vnv.1	c.82_84delGAA	449-451/4169	5	5			c.82_84delGAA						7	DEL	c.(82-84)GAAdel	22	22			ovary(2)	2	Broad	coiled-coil domain containing 136			128434469		0.414	ENSG00000128596	2719	g.chr7:128434467_128434469delGAA		integral to membrane	protein binding																				0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			CCDC136_uc003vnu.1_In_Frame_Del_p.E82del|CCDC136_uc003vnw.1_In_Frame_Del_p.E32del	59	GBM-06-0645-TP	p.E32del	GAA	agaagaggtggaagaagaagaag	NM_022742	NP_073579	128434467	Q96JN2	CC136_HUMAN	0			2	449_451	+	-	-			In_Frame_Del	32			Glu-rich.			
CCDC136	64753		GRCh37	7	128445464	128445464	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000297788.4:c.834G>A	p.Thr278=	p.T278=	ENST00000297788	NM_022742.4	278	acG/acA	0																																																																																																																																																																																																																																												
CCDC138	165055	broad.mit.edu	GRCh37	2	109410997	109410997	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C			TCGA-06-2557-01	TCGA-06-2557-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295124.4:c.396T>C		p.X132_splice	ENST00000295124	NM_144978.1	132	gtT/gtC	0			1			C	V	uc002ten.1	protein_coding	YES	CCDS2080.1			396/1998										0	c.(394-396)GTT>GTC				coiled-coil domain containing 138				ENSP00000295124		15-May									COSM2152565	15-May	.		ENST00000295124	Transcript						ENSG00000163006	g.chr2:109410997T>C	26531			LOW								--	--	1																																		CCDC138_uc002teo.1_Silent_p.V132V|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR	1	1			p.V132V	NM_144978	NP_659415			1	CC138_HUMAN	CCDC138	HGNC	Q96M89	CC138_HUMAN					5	456	+			UPI000006E2CB	132					SNV	CCDC138,splice_region_variant,p.=,ENST00000295124,NM_144978.1;CCDC138,splice_region_variant,p.=,ENST00000412964,;CCDC138,splice_region_variant,p.=,ENST00000456512,;CCDC138,splice_region_variant,,ENST00000470608,;CCDC138,splice_region_variant,,ENST00000409529,;CCDC138,splice_region_variant,,ENST00000447782,;	uc002ten.1	c.396T>C	456/2383	3	3			c.396T>C						2	SNP	c.(394-396)GTT>GTC	12	12				0	Broad	coiled-coil domain containing 138			109410997		0.363	ENSG00000163006	2721	g.chr2:109410997T>C										75.25691	KEEP	17	12	-1	55	48	17	12	-1	83.790153	55	48	0.22314	1	0	0	0	0	0	0	1	0	--	--		0	C			CCDC138_uc002teo.1_Silent_p.V132V|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR	81	GBM-06-2557-TP	p.V132V	T	TCTTTGCAGTTGCCTTGCCAA	NM_144978	NP_659415	109410997	Q96M89	CC138_HUMAN	0			5	456	+	C	C			Silent	132						
CCDC141	285025	broad.mit.edu	GRCh37	2	179701794	179701794	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0195-01	TCGA-06-0195-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000420890.2:c.4152G>A	p.Arg1384=	p.R1384=	ENST00000420890	NM_173648.3	1384	agG/agA	0			1			T	R	uc002unf.1	protein_coding	YES				4152/4593									ovary(7)|pancreas(2)|skin(1)	10	c.(2425-2427)AGG>AGA			hmmpanther:PTHR19897	coiled-coil domain containing 141				ENSP00000395995		23/24									COSM3407367,COSM3407368	23/24	.		ENST00000420890	Transcript					protein binding	ENSG00000163492	g.chr2:179701794C>T	26821			LOW								--	--	1																																		CCDC141_uc002une.1_Silent_p.R259R	1,1	1			p.R809R	NM_173648	NP_775919			1,1		CCDC141	HGNC	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		H7C0P1_HUMAN,E7ERF0_HUMAN		13	2484	-			UPI0000EE2F1C	809					SNV	CCDC141,synonymous_variant,p.=,ENST00000420890,NM_173648.3;CCDC141,synonymous_variant,p.=,ENST00000343876,;CCDC141,synonymous_variant,p.=,ENST00000295723,;CCDC141,non_coding_transcript_exon_variant,,ENST00000480419,;CCDC141,non_coding_transcript_exon_variant,,ENST00000472828,;	uc002unf.1	c.2427G>A	4270/9127	2	2			c.2427G>A						2	SNP	c.(2425-2427)AGG>AGA	23	23			ovary(7)|pancreas(2)|skin(1)	10	Broad	coiled-coil domain containing 141			179701794		0.493	ENSG00000163492	2724	g.chr2:179701794C>T			protein binding							94.250493	KEEP	17	15	-1	17	11	17	15	-1	94.348894	17	11	0.545455	1	0	0	0	0	0	0	1	0	--	--		0	T			CCDC141_uc002une.1_Silent_p.R259R	45	GBM-06-0195-TP	p.R809R	C	GAACCATTTGCCTCTGATAGC	NM_173648	NP_775919	179701794	Q6ZP82	CC141_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		13	2484	-	T	T			Silent	809						
CCDC141	0	broad.mit.edu	GRCh37	2	179730518	179730518	+	synonymous_variant	Silent	SNP	G	G	A	rs144206841		TCGA-14-1823-01	TCGA-14-1823-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000420890.2:c.2700C>T	p.Cys900=	p.C900=	ENST00000420890	NM_173648.3	900	tgC/tgT	0	A:0.0002		1			A	C	uc002unf.1	protein_coding	YES				2700/4593									ovary(7)|pancreas(2)|skin(1)	10	c.(973-975)TGC>TGT			hmmpanther:PTHR19897	coiled-coil domain containing 141			A:0	ENSP00000395995		17/24	1.65E-05	9.67E-05						8.14E-05	rs144206841,COSM3407369,COSM3407370	17/24	.		ENST00000420890	Transcript					protein binding	ENSG00000163492	g.chr2:179730518G>A	26821			LOW								--	--	1																																			0,1,1	1			p.C325C	NM_173648	NP_775919			0,1,1		CCDC141	HGNC	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		H7C0P1_HUMAN,E7ERF0_HUMAN		7	1032	-			UPI0000EE2F1C	325			Potential.		SNV	CCDC141,synonymous_variant,p.=,ENST00000420890,NM_173648.3;CCDC141,synonymous_variant,p.=,ENST00000343876,;CCDC141,synonymous_variant,p.=,ENST00000295723,;CCDC141,synonymous_variant,p.=,ENST00000443758,;	uc002unf.1	c.975C>T	2818/9127	1	1			c.975C>T						2	SNP	c.(973-975)TGC>TGT	61	61			ovary(7)|pancreas(2)|skin(1)	10	Broad	coiled-coil domain containing 141			179730518		0.532	ENSG00000163492	2724	g.chr2:179730518G>A			protein binding							-106.729263	KEEP	5	6	-1	294	220	5	6	-1	16.309013	294	220	0.020877	1	0	0	0	0	0	0	1	0	--	--		0	A				147	GBM-14-1823-TP	p.C325C	G	CTCTCATGGCGCAGTACTCCA	NM_173648	NP_775919	179730518	Q6ZP82	CC141_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		7	1032	-	A	A			Silent	325			Potential.			
CCDC141	285025		GRCh37	2	179720232	179720232	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000420890.2:c.2902del	p.Thr968ProfsTer6	p.T968Pfs*6	ENST00000420890	NM_173648.3	968	Acc/cc	0																																																																																																																																																																																																																																												
CCDC144A	9720	broad.mit.edu	GRCh37	17	16593762	16593762	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2567-01	TCGA-06-2567-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000443444.2:c.48G>A	p.Pro16=	p.P16=	ENST00000443444		16	ccG/ccA	0			1			A	P	uc002gqk.1	protein_coding		CCDS45621.1			48/4284										0	c.(46-48)CCG>CCA			hmmpanther:PTHR22245:SF0,hmmpanther:PTHR22245	coiled-coil domain containing 144A				ENSP00000353717		18-Jan									COSM3402631,COSM3402632,COSM417177	18-Jan	.		ENST00000360524	Transcript						ENSG00000170160	g.chr17:16593762G>A	29072			LOW								--	--	1																																			1,1,1				p.P16P	NM_014695	NP_055510			1,1,1	C144A_HUMAN	CCDC144A	HGNC	A2RUR9	C144A_HUMAN					1	124	+			UPI0000F095D0	16					SNV	CCDC144A,synonymous_variant,p.=,ENST00000443444,;CCDC144A,synonymous_variant,p.=,ENST00000399273,;CCDC144A,synonymous_variant,p.=,ENST00000360524,NM_014695.1;CCDC144A,synonymous_variant,p.=,ENST00000456009,;CCDC144A,synonymous_variant,p.=,ENST00000340621,;CCDC144A,upstream_gene_variant,,ENST00000420937,;RNU6-405P,upstream_gene_variant,,ENST00000516637,;CCDC144A,non_coding_transcript_exon_variant,,ENST00000436374,;CCDC144A,intron_variant,,ENST00000478303,;RP11-219A15.1,synonymous_variant,p.=,ENST00000448331,;CCDC144A,synonymous_variant,p.=,ENST00000360495,;CCDC144A,non_coding_transcript_exon_variant,,ENST00000399264,;	uc002gqk.1	c.48G>A	124/5830	2	2			c.48G>A						17	SNP	c.(46-48)CCG>CCA	32	32				0	Broad	coiled-coil domain containing 144A			16593762		0.672	ENSG00000170160	2726	g.chr17:16593762G>A										6.693375	KEEP	1	3	-1	10	13	1	3	-1	8.999598	10	13	0.173913	1	0	0	0	0	0	0	1	0	--	--		0	A				89	GBM-06-2567-TP	p.P16P	G	AGGGGTCTCCGAAGCCGGCAG	NM_014695	NP_055510	16593762	A2RUR9	C144A_HUMAN	0			1	124	+	A	A			Silent	16						
CCDC144NL	0	broad.mit.edu	GRCh37	17	20799291	20799291	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-27-1836-01	TCGA-27-1836-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327925.5:c.43T>G	p.Ser15Ala	p.S15A	ENST00000327925	NM_001004306.1	15	Tct/Gct	0			1			C	S/A	uc002gyf.2	protein_coding	YES	CCDS32591.1			43/666										0	c.(43-45)TCT>GCT			hmmpanther:PTHR22245,hmmpanther:PTHR22245:SF1	coiled-coil domain containing 144 family,				ENSP00000328054		4-Jan	6.59E-05				0.00016	6.23E-05			rs768234508,COSM3748008	4-Jan	.		ENST00000327925	Transcript						ENSG00000205212	g.chr17:20799291A>C	33735			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=C144L_HUMAN&rb=1&re=139&var=S15A	NA	getma.org/?cm=var&var=hg19,17,20799291,A,C&fts=all	S15A	--	--	1																																OREG0024248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	uc002gyg.1_Intron|uc002gyh.1_Intron	0,1	1		possibly_damaging(0.817)	p.S15A	NM_001004306	NP_001004306		deleterious_low_confidence(0)	0,1	C144L_HUMAN	CCDC144NL	HGNC	Q6NUI1	C144L_HUMAN					1	163	-			UPI00001D7A84	15					SNV	CCDC144NL,missense_variant,p.Ser15Ala,ENST00000327925,NM_001004306.1;RNU6-1178P,upstream_gene_variant,,ENST00000516674,;RP11-344E13.3,intron_variant,,ENST00000577537,;RP11-344E13.3,intron_variant,,ENST00000583962,;RP11-344E13.3,intron_variant,,ENST00000577860,;RP11-344E13.3,intron_variant,,ENST00000582324,;RP11-344E13.3,intron_variant,,ENST00000417232,;RP11-344E13.3,intron_variant,,ENST00000439794,;	uc002gyf.2	c.43T>G	163/2806	3	3			c.43T>G						17	SNP	c.(43-45)TCT>GCT	60	60				0	Broad	coiled-coil domain containing 144 family,			20799291		0.647	ENSG00000205212	2728	g.chr17:20799291A>C										4.463563	KEEP	11	6	-1	9	14	11	6	-1	6.395418	9	14	0.190476	1	0	0	0	0	1	0	0	0	--	--		0	C	OREG0024248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	uc002gyg.1_Intron|uc002gyh.1_Intron	195	GBM-27-1836-TP	p.S15A	A	GGCTTCGGAGACCCCCCAGCC	NM_001004306	NP_001004306	20799291	Q6NUI1	C144L_HUMAN	0			1	163	-	C	C			Missense_Mutation	15						
CCDC146	57639	broad.mit.edu	GRCh37	7	76883866	76883866	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-02-2483-01	TCGA-02-2483-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285871.4:c.493A>T	p.Ile165Leu	p.I165L	ENST00000285871	NM_020879.2	165	Ata/Tta	0			1			T	I/L	uc003uga.2	protein_coding	YES	CCDS34671.1			493/2868									ovary(1)|central_nervous_system(1)	2	c.(493-495)ATA>TTA			Low_complexity_(Seg):seg,hmmpanther:PTHR32083:SF23,hmmpanther:PTHR32083	coiled-coil domain containing 146				ENSP00000285871		19-May									COSM2149131	19-May	.		ENST00000285871	Transcript						ENSG00000135205	g.chr7:76883866A>T	29296			MODERATE		2.08	medium	getma.org/?cm=msa&ty=f&p=CC146_HUMAN&rb=1&re=249&var=I165L	NA	getma.org/?cm=var&var=hg19,7,76883866,A,T&fts=all	I165L	--	--	1																																			1	1		benign(0.005)	p.I165L	NM_020879	NP_065930		tolerated(0.13)	1	CC146_HUMAN	CCDC146	HGNC	Q8IYE0	CC146_HUMAN			Q7Z4Q3_HUMAN		5	620	+		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)	UPI000020F44F	165					SNV	CCDC146,missense_variant,p.Ile165Leu,ENST00000285871,NM_020879.2;CCDC146,missense_variant,p.Ile165Leu,ENST00000415750,;CCDC146,5_prime_UTR_variant,,ENST00000431197,;AC073635.5,intron_variant,,ENST00000476561,;CCDC146,non_coding_transcript_exon_variant,,ENST00000461882,;	uc003uga.2	c.493A>T	620/3333	2	2			c.493A>T						7	SNP	c.(493-495)ATA>TTA	24	24			ovary(1)|central_nervous_system(1)	2	Broad	coiled-coil domain containing 146			76883866		0.279	ENSG00000135205	2729	g.chr7:76883866A>T										64.12025	KEEP	13	9	-1	34	32	13	9	-1	66.987688	34	32	0.293333	1	0	0	0	0	1	0	0	0	--	--		0	T				6	GBM-02-2483-TP	p.I165L	A	ATTTGAGAAGATAACAAAGCC	NM_020879	NP_065930	76883866	Q8IYE0	CC146_HUMAN	0			5	620	+	T	T		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)	Missense_Mutation	165						
CCDC146	57639	broad.mit.edu	GRCh37	7	76922321	76922321	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-2563-01	TCGA-06-2563-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285871.4:c.2468T>C	p.Leu823Pro	p.L823P	ENST00000285871	NM_020879.2	823	cTt/cCt	0			1			C	L/P	uc003uga.2	protein_coding	YES	CCDS34671.1			2468/2868									ovary(1)|central_nervous_system(1)	2	c.(2467-2469)CTT>CCT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR32083:SF23,hmmpanther:PTHR32083	coiled-coil domain containing 146				ENSP00000285871		18/19									COSM2152873	18/19	.		ENST00000285871	Transcript						ENSG00000135205	g.chr7:76922321T>C	29296			MODERATE		2.19	medium	getma.org/?cm=msa&ty=f&p=CC146_HUMAN&rb=631&re=954&var=L823P	NA	getma.org/?cm=var&var=hg19,7,76922321,T,C&fts=all	L823P	--	--	1																																		CCDC146_uc010ldp.2_Missense_Mutation_p.L537P|CCDC146_uc003ugc.2_Missense_Mutation_p.L160P	1	1		possibly_damaging(0.847)	p.L823P	NM_020879	NP_065930		deleterious(0)	1	CC146_HUMAN	CCDC146	HGNC	Q8IYE0	CC146_HUMAN			Q7Z4Q3_HUMAN		18	2595	+		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)	UPI000020F44F	823			Potential.		SNV	CCDC146,missense_variant,p.Leu823Pro,ENST00000285871,NM_020879.2;CCDC146,missense_variant,p.Leu537Pro,ENST00000431197,;CCDC146,non_coding_transcript_exon_variant,,ENST00000415740,;CCDC146,upstream_gene_variant,,ENST00000488998,;CCDC146,non_coding_transcript_exon_variant,,ENST00000461259,;CCDC146,non_coding_transcript_exon_variant,,ENST00000478101,;CCDC146,non_coding_transcript_exon_variant,,ENST00000474733,;	uc003uga.2	c.2468T>C	2595/3333	3	3			c.2468T>C						7	SNP	c.(2467-2469)CTT>CCT	10	10			ovary(1)|central_nervous_system(1)	2	Broad	coiled-coil domain containing 146			76922321		0.398	ENSG00000135205	2729	g.chr7:76922321T>C										174.343881	KEEP	28	27	-1	56	57	28	27	-1	178.608994	56	57	0.329268	1	0	0	0	0	1	0	0	0	--	--		0	C			CCDC146_uc010ldp.2_Missense_Mutation_p.L537P|CCDC146_uc003ugc.2_Missense_Mutation_p.L160P	86	GBM-06-2563-TP	p.L823P	T	ATGATGGCTCTTGTTGCTGAG	NM_020879	NP_065930	76922321	Q8IYE0	CC146_HUMAN	0			18	2595	+	C	C		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)	Missense_Mutation	823			Potential.			
CCDC148	0	broad.mit.edu	GRCh37	2	159215014	159215015	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-19-5951-01	TCGA-19-5951-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283233.5:c.93dupA	p.Leu32IlefsTer6	p.L32Ifs*6	ENST00000283233	NM_138803.3	31	-/A	0			1			T	-/X	uc002tzq.2	protein_coding	YES	CCDS33304.1			93-94/1776									ovary(2)	2	c.(91-96)CAATTGfs			hmmpanther:PTHR21549:SF1,hmmpanther:PTHR21549	coiled-coil domain containing 148				ENSP00000283233		14-Feb										14-Feb	.		ENST00000283233	Transcript						ENSG00000153237	g.chr2:159215014_159215015insT	25191			HIGH								--	--	1																																		CCDC148_uc002tzr.2_5'UTR|CCDC148_uc010foh.2_5'UTR|CCDC148_uc010foi.1_Intron|CCDC148_uc010foj.1_5'UTR|CCDC148_uc010fok.1_Intron|CCDC148_uc002tzs.1_Frame_Shift_Ins_p.Q31fs		1			p.Q31fs	NM_138803	NP_620158				CC148_HUMAN	CCDC148	HGNC	Q8NFR7	CC148_HUMAN					2	356_357	-			UPI0000208F63	31_32					insertion	CCDC148,frameshift_variant,p.Leu32IlefsTer6,ENST00000283233,NM_138803.3;CCDC148,frameshift_variant,p.Leu41IlefsTer6,ENST00000409187,;CCDC148,frameshift_variant,p.Leu32IlefsTer6,ENST00000409889,;CCDC148,intron_variant,,ENST00000536771,NM_001171637.1;CCDC148,frameshift_variant,p.Leu32IlefsTer6,ENST00000454257,;CCDC148,frameshift_variant,p.Leu32IlefsTer6,ENST00000448656,;CCDC148,intron_variant,,ENST00000451554,;CCDC148,intron_variant,,ENST00000417066,;	uc002tzq.2	c.93_94insA	407-408/3122	5	5			c.93_94insA						2	INS	c.(91-96)CAATTGfs	8	8			ovary(2)	2	Broad	coiled-coil domain containing 148			159215015		0.322	ENSG00000153237	2731	g.chr2:159215014_159215015insT																							0.41	1	0	0	1	1	0	0	0	0	--	--		0	T			CCDC148_uc002tzr.2_5'UTR|CCDC148_uc010foh.2_5'UTR|CCDC148_uc010foi.1_Intron|CCDC148_uc010foj.1_5'UTR|CCDC148_uc010fok.1_Intron|CCDC148_uc002tzs.1_Frame_Shift_Ins_p.Q31fs	171	GBM-19-5951-TP	p.Q31fs	-	AATGCACGCAATTGTTGATAGT	NM_138803	NP_620158	159215014	Q8NFR7	CC148_HUMAN	0			2	356_357	-	T	T			Frame_Shift_Ins	31_32						
CCDC149	91050	broad.mit.edu	GRCh37	4	24838869	24838869	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0221-01	TCGA-06-0221-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504487.1:c.643G>A	p.Ala215Thr	p.A215T	ENST00000504487	NM_001130726.2	215	Gcc/Acc	0			1			T	A/T	uc011bxr.1	protein_coding	YES	CCDS47036.1			643/1590										0	c.(643-645)GCC>ACC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21682,hmmpanther:PTHR21682:SF1,Pfam_domain:PF09789	coiled-coil domain containing 149 isoform 1				ENSP00000425715		12-Jun									COSM2150996,COSM2150995	12-Jun	.		ENST00000504487	Transcript						ENSG00000181982	g.chr4:24838869C>T	25405			MODERATE		1.69	low	getma.org/?cm=msa&ty=f&p=CC149_HUMAN&rb=1&re=283&var=A160T	NA	getma.org/?cm=var&var=hg19,4,24838869,C,T&fts=all	A160T	--	--	1																																		CCDC149_uc003grc.2_Missense_Mutation_p.A215T|CCDC149_uc003grb.2_RNA|CCDC149_uc003grd.2_Intron|CCDC149_uc003gre.2_Missense_Mutation_p.A160T|CCDC149_uc011bxq.1_Missense_Mutation_p.A88T	1,1	1		probably_damaging(0.999)	p.A215T	NM_173463	NP_775734		deleterious(0.03)	1,1	CC149_HUMAN	CCDC149	HGNC	B4DZG3	B4DZG3_HUMAN					7	787	-		Breast(46;0.173)	UPI00005A7F29	215					SNV	CCDC149,missense_variant,p.Ala215Thr,ENST00000504487,NM_001130726.2;CCDC149,missense_variant,p.Ala215Thr,ENST00000389609,NM_173463.4;CCDC149,intron_variant,,ENST00000428116,;CCDC149,intron_variant,,ENST00000502801,;CCDC149,non_coding_transcript_exon_variant,,ENST00000512432,;CCDC149,non_coding_transcript_exon_variant,,ENST00000324309,;	uc011bxr.1	c.643G>A	650/3869	2	2			c.643G>A						4	SNP	c.(643-645)GCC>ACC	45	45				0	Broad	coiled-coil domain containing 149 isoform 1			24838869		0.582	ENSG00000181982	2732	g.chr4:24838869C>T										81.191182	KEEP	20	10	-1	24	20	20	10	-1	81.462283	24	20	0.430769	1	0	0	0	0	1	0	0	0	--	--		0	T			CCDC149_uc003grc.2_Missense_Mutation_p.A215T|CCDC149_uc003grb.2_RNA|CCDC149_uc003grd.2_Intron|CCDC149_uc003gre.2_Missense_Mutation_p.A160T|CCDC149_uc011bxq.1_Missense_Mutation_p.A88T	53	GBM-06-0221-TP	p.A215T	C	ATACACAGGGCGTCCACGTCA	NM_173463	NP_775734	24838869	B4DZG3	B4DZG3_HUMAN	0			7	787	-	T	T		Breast(46;0.173)	Missense_Mutation	215						
CCDC149	91050		GRCh37	4	24878210	24878210	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000504487.1:c.173A>G	p.Asn58Ser	p.N58S	ENST00000504487	NM_001130726.2	58	aAt/aGt	0																																																																																																																																																																																																																																												
CCDC150	0	broad.mit.edu	GRCh37	2	197521487	197521487	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-32-2495-01	TCGA-32-2495-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389175.4:c.307C>T	p.Arg103Ter	p.R103*	ENST00000389175	NM_001080539.1	103	Cga/Tga	0	T:0.0003		1			T	R/*	uc002utp.1	protein_coding	YES	CCDS46478.1			307/3306										0	c.(307-309)CGA>TGA				coiled-coil domain containing 150			T:0	ENSP00000373827		28-Mar									rs200403800,COSM3407447	28-Mar	.		ENST00000389175	Transcript						ENSG00000144395	g.chr2:197521487C>T	26834			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,197521487,C,T&fts=all	R103*	--	--	1																																		CCDC150_uc002uto.1_Nonsense_Mutation_p.R103*|CCDC150_uc010zgq.1_RNA|CCDC150_uc010zgr.1_Intron|CCDC150_uc010zgs.1_Intron	0,1	1			p.R103*	NM_001080539	NP_001074008			0,1	CC150_HUMAN	CCDC150	HGNC	Q8NCX0	CC150_HUMAN					3	442	+			UPI0000DD7A7C	103					SNV	CCDC150,stop_gained,p.Arg103Ter,ENST00000389175,NM_001080539.1;CCDC150,5_prime_UTR_variant,,ENST00000472405,;CCDC150,intron_variant,,ENST00000272831,;CCDC150,intron_variant,,ENST00000423093,;CCDC150,non_coding_transcript_exon_variant,,ENST00000495513,;CCDC150,intron_variant,,ENST00000498512,;CCDC150,non_coding_transcript_exon_variant,,ENST00000471546,;CCDC150,non_coding_transcript_exon_variant,,ENST00000471033,;CCDC150,intron_variant,,ENST00000431807,;	uc002utp.1	c.307C>T	442/3685	5	2			c.307C>T						2	SNP	c.(307-309)CGA>TGA	46	46				0	Broad	coiled-coil domain containing 150			197521487		0.398	ENSG00000144395	2734	g.chr2:197521487C>T										113.352543	KEEP	19	29	-1	42	60	19	29	-1	117.221947	42	60	0.314961	1	0	0	0	0	0	1	0	0	--	--		0	T			CCDC150_uc002uto.1_Nonsense_Mutation_p.R103*|CCDC150_uc010zgq.1_RNA|CCDC150_uc010zgr.1_Intron|CCDC150_uc010zgs.1_Intron	237	GBM-32-2495-TP	p.R103*	C	TCTGGTAAATCGAATGTGCCG	NM_001080539	NP_001074008	197521487	Q8NCX0	CC150_HUMAN	0			3	442	+	T	T			Nonsense_Mutation	103						
CCDC155	147872	broad.mit.edu	GRCh37	19	49900952	49900952	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0210-01	TCGA-06-0210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000447857.3:c.445G>T	p.Gly149Cys	p.G149C	ENST00000447857	NM_144688.4	149	Ggc/Tgc	0			1			T	G/C	uc002pnm.1	protein_coding	YES	CCDS46140.1			445/1689									ovary(1)|central_nervous_system(1)	2	c.(445-447)GGC>TGC				coiled-coil domain containing 155				ENSP00000404220		20-Jun									COSM2150695	20-Jun	.		ENST00000447857	Transcript				integral to membrane	calcium ion binding	ENSG00000161609	g.chr19:49900952G>T	26520			MODERATE		2.24	medium	getma.org/?cm=msa&ty=f&p=CC155_HUMAN&rb=1&re=560&var=G149C	NA	getma.org/?cm=var&var=hg19,19,49900952,G,T&fts=all	G149C	--	--	1																																		CCDC155_uc002pnl.1_Missense_Mutation_p.G149C|CCDC155_uc010emx.1_Missense_Mutation_p.G122C	1	1		probably_damaging(0.987)	p.G149C	NM_144688	NP_653289		deleterious(0)	1	KASH5_HUMAN	CCDC155	HGNC	Q8N6L0	CC155_HUMAN			M0R1C7_HUMAN,M0QXW9_HUMAN,M0QXT3_HUMAN,M0QX09_HUMAN		6	619	+			UPI000006F690	149					SNV	CCDC155,missense_variant,p.Gly149Cys,ENST00000447857,NM_144688.4;CCDC155,missense_variant,p.Gly113Cys,ENST00000600570,;CCDC155,missense_variant,p.Gly149Cys,ENST00000594043,;CCDC155,missense_variant,p.Gly135Cys,ENST00000595828,;CCDC155,downstream_gene_variant,,ENST00000598730,;CCDC155,downstream_gene_variant,,ENST00000594905,;CCDC155,downstream_gene_variant,,ENST00000593725,;CCDC155,non_coding_transcript_exon_variant,,ENST00000596771,;CCDC155,non_coding_transcript_exon_variant,,ENST00000596130,;CCDC155,upstream_gene_variant,,ENST00000593631,;CCDC155,downstream_gene_variant,,ENST00000596862,;CCDC155,downstream_gene_variant,,ENST00000600895,;CCDC155,downstream_gene_variant,,ENST00000597993,;	uc002pnm.1	c.445G>T	650/2378	2	2			c.445G>T						19	SNP	c.(445-447)GGC>TGC	32	32			ovary(1)|central_nervous_system(1)	2	Broad	coiled-coil domain containing 155			49900952		0.567	ENSG00000161609	2737	g.chr19:49900952G>T		integral to membrane	calcium ion binding							103.18886	KEEP	28	31	0.474576271	117	126	28	31	0.474576271	127.229157	117	126	0.188679	1	0	0	0	0	1	0	0	0	--	--		0	T			CCDC155_uc002pnl.1_Missense_Mutation_p.G149C|CCDC155_uc010emx.1_Missense_Mutation_p.G122C	47	GBM-06-0210-TP	p.G149C	G	GAGCTTCGGAGGCGAAGACCC	NM_144688	NP_653289	49900952	Q8N6L0	CC155_HUMAN	0			6	619	+	T	T			Missense_Mutation	149						
CCDC155	0	broad.mit.edu	GRCh37	19	49910497	49910497	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5220-01	TCGA-28-5220-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000447857.3:c.877C>T	p.Arg293Trp	p.R293W	ENST00000447857	NM_144688.4	293	Cgg/Tgg	0		T:0.0008	1	T:0.0014		T	R/W	uc002pnm.1	protein_coding	YES	CCDS46140.1			877/1689									ovary(1)|central_nervous_system(1)	2	c.(877-879)CGG>TGG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10159:SF289,hmmpanther:PTHR10159,Pfam_domain:PF14662	coiled-coil domain containing 155		T:0		ENSP00000404220	T:0	20-Nov	4.14E-05	0.000103	0.000347						rs568170851,COSM3404453	20-Nov	.		ENST00000447857	Transcript		T:0.0004		integral to membrane	calcium ion binding	ENSG00000161609	g.chr19:49910497C>T	26520			MODERATE		1.375	low	getma.org/?cm=msa&ty=f&p=CC155_HUMAN&rb=1&re=560&var=R293W	NA	getma.org/?cm=var&var=hg19,19,49910497,C,T&fts=all	R293W	--	--	1																																		CCDC155_uc010emx.1_Missense_Mutation_p.R266W	0,1	1		benign(0.024)	p.R293W	NM_144688	NP_653289	T:0	tolerated(0.21)	0,1	KASH5_HUMAN	CCDC155	HGNC	Q8N6L0	CC155_HUMAN			M0R1C7_HUMAN,M0QXW9_HUMAN,M0QXT3_HUMAN,M0QX09_HUMAN		11	1051	+			UPI000006F690	293			Potential.		SNV	CCDC155,missense_variant,p.Arg293Trp,ENST00000447857,NM_144688.4;CCDC155,missense_variant,p.Arg257Trp,ENST00000600570,;CCDC155,splice_region_variant,,ENST00000596130,;CCDC155,upstream_gene_variant,,ENST00000593362,;CCDC155,upstream_gene_variant,,ENST00000596419,;	uc002pnm.1	c.877C>T	1082/2378	2	2			c.877C>T						19	SNP	c.(877-879)CGG>TGG	43	43			ovary(1)|central_nervous_system(1)	2	Broad	coiled-coil domain containing 155			49910497		0.592	ENSG00000161609	2737	g.chr19:49910497C>T		integral to membrane	calcium ion binding							31.584895	KEEP	9	14	-1	17	18	9	14	-1	32.350399	17	18	0.342857	1	0	0	0	0	1	0	0	0	--	--		0	T			CCDC155_uc010emx.1_Missense_Mutation_p.R266W	226	GBM-28-5220-TP	p.R293W	C	TTCTTGGCAGCGGCAGCTCTT	NM_144688	NP_653289	49910497	Q8N6L0	CC155_HUMAN	0			11	1051	+	T	T			Missense_Mutation	293			Potential.			
CCDC157	0	broad.mit.edu	GRCh37	22	30766543	30766543	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338306.3:c.649G>A	p.Ala217Thr	p.A217T	ENST00000338306	NM_001017437.2	217	Gcc/Acc	0			1			A	A/T	uc011aku.1	protein_coding		CCDS33632.2			649/2259									central_nervous_system(1)	1	c.(649-651)GCC>ACC			hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF173	coiled-coil domain containing 157				ENSP00000343087		12-May									COSM3405586,COSM3405585	12-May	.		ENST00000338306	Transcript						ENSG00000187860	g.chr22:30766543G>A	33854			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=CC157_HUMAN&rb=1&re=750&var=A217T	NA	getma.org/?cm=var&var=hg19,22,30766543,G,A&fts=all	A217T	--	--	1																																		CCDC157_uc011akv.1_Missense_Mutation_p.A217T	1,1			probably_damaging(0.995)	p.A217T	NM_001017437	NP_001017437		deleterious(0.03)	1,1	CC157_HUMAN	CCDC157	HGNC	Q569K6	CC157_HUMAN			E7EWT0_HUMAN,E7ETG3_HUMAN,A8MUK5_HUMAN		5	1309	+			UPI0001610F7B	217					SNV	CCDC157,missense_variant,p.Ala217Thr,ENST00000405659,;CCDC157,missense_variant,p.Ala217Thr,ENST00000338306,NM_001017437.2;CCDC157,downstream_gene_variant,,ENST00000399824,;CCDC157,downstream_gene_variant,,ENST00000430839,;CCDC157,downstream_gene_variant,,ENST00000445005,;RP1-130H16.16,downstream_gene_variant,,ENST00000332468,;CCDC157,non_coding_transcript_exon_variant,,ENST00000475975,;CCDC157,upstream_gene_variant,,ENST00000482413,;	uc011aku.1	c.649G>A	1309/3001	1	1			c.649G>A						22	SNP	c.(649-651)GCC>ACC	59	59			central_nervous_system(1)	1	Broad	coiled-coil domain containing 157			30766543		0.622	ENSG00000187860	2738	g.chr22:30766543G>A										178.691975	KEEP	26	41	-1	45	45	26	41	-1	179.276216	45	45	0.432432	1	0	0	0	0	1	0	0	0	--	--		0	A			CCDC157_uc011akv.1_Missense_Mutation_p.A217T	270	GBM-76-4931-TP	p.A217T	G	CATTGAGACGGCCCTGGTGCC	NM_001017437	NP_001017437	30766543	Q569K6	CC157_HUMAN	0			5	1309	+	A	A			Missense_Mutation	217						
CCDC158	0	broad.mit.edu	GRCh37	4	77304876	77304876	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01	TCGA-14-0789-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388914.3:c.742G>A	p.Glu248Lys	p.E248K	ENST00000388914	NM_001042784.1	248	Gaa/Aaa	0			1			T	E/K	uc003hkb.3	protein_coding	YES	CCDS43242.1			742/3342									skin(3)|ovary(2)|pancreas(1)	6	c.(742-744)GAA>AAA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF361,hmmpanther:PTHR13140	coiled-coil domain containing 158				ENSP00000373566		24-Jun									COSM3409495	24-Jun	.		ENST00000388914	Transcript						ENSG00000163749	g.chr4:77304876C>T	26374			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=CD158_HUMAN&rb=1&re=249&var=E248K	NA	getma.org/?cm=var&var=hg19,4,77304876,C,T&fts=all	E248K	--	--	1																																		CCDC158_uc003hkd.2_Missense_Mutation_p.E248K	1	1		probably_damaging(0.979)	p.E248K	NM_001042784	NP_001036249		deleterious(0.03)	1	CD158_HUMAN	CCDC158	HGNC	Q5M9N0	CD158_HUMAN					6	895	-			UPI00004DF23B	248			Potential.		SNV	CCDC158,missense_variant,p.Glu248Lys,ENST00000388914,NM_001042784.1;CCDC158,missense_variant,p.Glu248Lys,ENST00000434846,;CCDC158,downstream_gene_variant,,ENST00000509851,;	uc003hkb.3	c.742G>A	895/3663	2	2			c.742G>A						4	SNP	c.(742-744)GAA>AAA	42	42			skin(3)|ovary(2)|pancreas(1)	6	Broad	coiled-coil domain containing 158			77304876		0.368	ENSG00000163749	2739	g.chr4:77304876C>T										77.141183	KEEP	27	7	-1	69	36	27	7	-1	84.237099	69	36	0.251969	1	0	0	0	0	1	0	0	0	--	--		0	T			CCDC158_uc003hkd.2_Missense_Mutation_p.E248K	136	GBM-14-0789-TP	p.E248K	C	TTCAGTGCTTCAAGTTGATCC	NM_001042784	NP_001036249	77304876	Q5M9N0	CD158_HUMAN	0			6	895	-	T	T			Missense_Mutation	248			Potential.			
CCDC158	0	broad.mit.edu	GRCh37	4	77288530	77288530	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388914.3:c.1747C>T	p.Arg583Ter	p.R583*	ENST00000388914	NM_001042784.1	583	Cga/Tga	0			1			A	R/*	uc003hkb.3	protein_coding	YES	CCDS43242.1			1747/3342									skin(3)|ovary(2)|pancreas(1)	6	c.(1747-1749)CGA>TGA			hmmpanther:PTHR13140:SF361,hmmpanther:PTHR13140	coiled-coil domain containing 158				ENSP00000373566		24-Nov	4.96E-05	0.000102						0.000303	rs755862671,COSM3409494	24-Nov	.		ENST00000388914	Transcript						ENSG00000163749	g.chr4:77288530G>A	26374			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,4,77288530,G,A&fts=all	R583*	--	--	1																																			0,1	1			p.R583*	NM_001042784	NP_001036249			0,1	CD158_HUMAN	CCDC158	HGNC	Q5M9N0	CD158_HUMAN					11	1900	-			UPI00004DF23B	583			Potential.		SNV	CCDC158,stop_gained,p.Arg583Ter,ENST00000388914,NM_001042784.1;CCDC158,non_coding_transcript_exon_variant,,ENST00000504667,;	uc003hkb.3	c.1747C>T	1900/3663	5	2			c.1747C>T						4	SNP	c.(1747-1749)CGA>TGA	41	41			skin(3)|ovary(2)|pancreas(1)	6	Broad	coiled-coil domain containing 158			77288530		0.453	ENSG00000163749	2739	g.chr4:77288530G>A										120.130007	KEEP	17	29	-1	66	49	17	29	-1	126.075048	66	49	0.292208	1	0	0	0	0	0	1	0	0	--	--		0	A				162	GBM-19-2620-TP	p.R583*	G	CCAGCAGTTCGTCCATGCTGG	NM_001042784	NP_001036249	77288530	Q5M9N0	CD158_HUMAN	0			11	1900	-	A	A			Nonsense_Mutation	583			Potential.			
CCDC158	0	broad.mit.edu	GRCh37	4	77288529	77288529	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-2571-01	TCGA-41-2571-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388914.3:c.1748G>A	p.Arg583Gln	p.R583Q	ENST00000388914	NM_001042784.1	583	cGa/cAa	0	T:0		1			T	R/Q	uc003hkb.3	protein_coding	YES	CCDS43242.1			1748/3342									skin(3)|ovary(2)|pancreas(1)	6	c.(1747-1749)CGA>CAA			hmmpanther:PTHR13140:SF361,hmmpanther:PTHR13140	coiled-coil domain containing 158			T:0.0001	ENSP00000373566		24-Nov	5.79E-05					0.000105			rs370067451,COSM138438	24-Nov	.		ENST00000388914	Transcript						ENSG00000163749	g.chr4:77288529C>T	26374			MODERATE		0.205	neutral	getma.org/?cm=msa&ty=f&p=CD158_HUMAN&rb=251&re=1111&var=R583Q	NA	getma.org/?cm=var&var=hg19,4,77288529,C,T&fts=all	R583Q	--	--	1																																			0,1	1		probably_damaging(0.975)	p.R583Q	NM_001042784	NP_001036249		tolerated(0.16)	0,1	CD158_HUMAN	CCDC158	HGNC	Q5M9N0	CD158_HUMAN					11	1901	-			UPI00004DF23B	583			Potential.		SNV	CCDC158,missense_variant,p.Arg583Gln,ENST00000388914,NM_001042784.1;CCDC158,non_coding_transcript_exon_variant,,ENST00000504667,;	uc003hkb.3	c.1748G>A	1901/3663	2	2			c.1748G>A						4	SNP	c.(1747-1749)CGA>CAA	43	43			skin(3)|ovary(2)|pancreas(1)	6	Broad	coiled-coil domain containing 158			77288529		0.458	ENSG00000163749	2739	g.chr4:77288529C>T										187.425345	KEEP	39	23	-1	45	46	39	23	-1	188.550806	45	46	0.407895	1	0	0	0	0	1	0	0	0	--	--		0	T				250	GBM-41-2571-TP	p.R583Q	C	TCCAGCAGTTCGTCCATGCTG	NM_001042784	NP_001036249	77288529	Q5M9N0	CD158_HUMAN	0			11	1901	-	T	T			Missense_Mutation	583			Potential.			
CCDC170	80129	broad.mit.edu	GRCh37	6	151914390	151914390	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01	TCGA-06-0126-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000239374.7:c.1442C>T	p.Thr481Ile	p.T481I	ENST00000239374	NM_025059.3	481	aCc/aTc	0			1			T	T/I	uc003qol.2	protein_coding	YES	CCDS43515.1			1442/2148										0	c.(1441-1443)ACC>ATC			hmmpanther:PTHR18863,hmmpanther:PTHR18863:SF4	hypothetical protein LOC80129				ENSP00000239374		11-Aug									COSM2149447	11-Aug	.		ENST00000239374	Transcript						ENSG00000120262	g.chr6:151914390C>T	21177			MODERATE		2.47	medium	getma.org/?cm=msa&ty=f&p=CF097_HUMAN&rb=2&re=713&var=T481I	NA	getma.org/?cm=var&var=hg19,6,151914390,C,T&fts=all	T481I	--	--	1																																			1	1		possibly_damaging(0.899)	p.T481I	NM_025059	NP_079335		deleterious(0.04)	1	CC170_HUMAN	CCDC170	HGNC	Q8IYT3	CF097_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)			8	1531	+		Ovarian(120;0.126)	UPI000020D0BA	481			Potential.		SNV	CCDC170,missense_variant,p.Thr481Ile,ENST00000367290,;CCDC170,missense_variant,p.Thr481Ile,ENST00000239374,NM_025059.3;CCDC170,non_coding_transcript_exon_variant,,ENST00000537358,;	uc003qol.2	c.1442C>T	1541/5293	1	1			c.1442C>T						6	SNP	c.(1441-1443)ACC>ATC	6	6				0	Broad	hypothetical protein LOC80129			151914390		0.423	ENSG00000120262	2325	g.chr6:151914390C>T						349			349	59.057212	KEEP	12	9	-1	35	16	12	9	-1	60.861033	35	16	0.323077	1	0	0	0	0	1	0	0	0	--	--		0	T				13	GBM-06-0126-TP	p.T481I	C	GAGAACAAGACCATTGCCCAC	NM_025059	NP_079335	151914390	Q8IYT3	CF097_HUMAN	0	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)	8	1531	+	T	T		Ovarian(120;0.126)	Missense_Mutation	481			Potential.			
CCDC172	374355		GRCh37	10	118084588	118084588	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2510-01	TCGA-28-2510-01																				ENST00000333254.3:c.65G>A	p.Arg22His	p.R22H	ENST00000333254	NM_198515.2	22	cGt/cAt	0																																																																																																																																																																																																																																												
CCDC18	343099		GRCh37	1	93683307	93683307	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000370276.1:c.2001A>G	p.Lys668Glu	p.K668E	ENST00000370276		668	Aag/Gag	0																																																																																																																																																																																																																																												
CCDC180	100499483	broad.mit.edu	GRCh37	9	100126341	100126341	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375202.2:c.4043C>T	p.Pro1348Leu	p.P1348L	ENST00000375202		1348	cCg/cTg	0	T:0		1			T	P/L	uc011lut.1	protein_coding	YES	CCDS35077.2			4043/5106									ovary(4)|large_intestine(2)|skin(1)	7	c.(4459-4461)CCG>CTG			hmmpanther:PTHR21444,hmmpanther:PTHR21444:SF14	hypothetical protein LOC57653			T:0.0002	ENSP00000364348		43/51	0.000198	9.62E-05	0.000346	0.000809		0.000105	0.00111	0.000242	rs202030409,COSM2792975,COSM2792976	43/51	common_variant		ENST00000375202	Transcript						ENSG00000197816	g.chr9:100126341C>T	29303			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=CI174_HUMAN&rb=1151&re=1645&var=P1293L	NA	getma.org/?cm=var&var=hg19,9,100126341,C,T&fts=all	P1293L	--	--	1																																		KIAA1529_uc004axe.1_Missense_Mutation_p.P1293L|KIAA1529_uc004axg.1_Missense_Mutation_p.P1348L|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Intron|MIR1302-8_hsa-mir-1302-8|MI0006369_5'Flank	0,1,1	1		benign(0)	p.P1487L	NM_020893	NP_065944		tolerated(0.11)	0,1,1	CC180_HUMAN	CCDC180	HGNC					B7ZMG3_HUMAN		41	5233	+		Acute lymphoblastic leukemia(62;0.154)	UPI00016277C6						SNV	CCDC180,missense_variant,p.Pro1348Leu,ENST00000375202,;CCDC180,missense_variant,p.Pro1293Leu,ENST00000357054,;CCDC180,missense_variant,p.Pro1348Leu,ENST00000529487,NM_020893.2;CCDC180,3_prime_UTR_variant,,ENST00000395220,;MIR1302-8,upstream_gene_variant,,ENST00000408342,;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000534123,;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000375206,;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000529787,;RP11-23J9.4,intron_variant,,ENST00000532526,;CCDC180,intron_variant,,ENST00000527182,;CCDC180,upstream_gene_variant,,ENST00000483504,;	uc011lut.1	c.4460C>T	5395/6851	2	2			c.4460C>T						9	SNP	c.(4459-4461)CCG>CTG	36	36			ovary(4)|large_intestine(2)|skin(1)	7	Broad	hypothetical protein LOC57653			100126341		0.592	ENSG00000197816	8101	g.chr9:100126341C>T										116.693007	KEEP	13	23	-1	10	9	13	23	-1	118.195665	10	9	0.6875	1	0	0	0	0	1	0	0	0	--	--		0	T			KIAA1529_uc004axe.1_Missense_Mutation_p.P1293L|KIAA1529_uc004axg.1_Missense_Mutation_p.P1348L|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Intron|MIR1302-8_hsa-mir-1302-8|MI0006369_5'Flank	102	GBM-06-5858-TP	p.P1487L	C	AGCTTCACACCGCACCCCAAG	NM_020893	NP_065944	100126341			0			41	5233	+	T	T		Acute lymphoblastic leukemia(62;0.154)	Missense_Mutation							
CCDC19	0	broad.mit.edu	GRCh37	1	159846467	159846467	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs141229765		TCGA-06-0214-01	TCGA-06-0214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368099.4:c.1231C>T	p.Arg411Trp	p.R411W	ENST00000368099	NM_012337.2	411	Cgg/Tgg	0			1			A	R/W	uc001fui.2	protein_coding	YES	CCDS30914.1			1231/1656									ovary(1)	1	c.(1231-1233)CGG>TGG			Pfam_domain:PF13868,hmmpanther:PTHR15504	nasopharyngeal epithelium specific protein 1				ENSP00000357079		12-Oct	1.65E-05					3.00E-05			rs766454855,COSM2084815	12-Oct	.		ENST00000368099	Transcript				mitochondrion|soluble fraction		ENSG00000213085	g.chr1:159846467G>A	17229			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=CCD19_HUMAN&rb=186&re=533&var=R411W	NA	getma.org/?cm=var&var=hg19,1,159846467,G,A&fts=all	R411W	--	--	1																																		CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.R326W|CCDC19_uc001ful.2_Missense_Mutation_p.R326W|CCDC19_uc009wtc.1_Missense_Mutation_p.A410V	0,1	1		possibly_damaging(0.67)	p.R411W	NM_012337	NP_036469		deleterious(0.01)	0,1	CCD19_HUMAN	CCDC19	HGNC	Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		Q05BA3_HUMAN		10	1249	-	all_hematologic(112;0.0597)		UPI000006F653	411			Potential.		SNV	CCDC19,missense_variant,p.Arg326Trp,ENST00000426543,;CCDC19,missense_variant,p.Arg411Trp,ENST00000368099,NM_012337.2;CCDC19,non_coding_transcript_exon_variant,,ENST00000476696,;CCDC19,non_coding_transcript_exon_variant,,ENST00000475911,;CCDC19,upstream_gene_variant,,ENST00000479861,;RP11-190A12.7,upstream_gene_variant,,ENST00000537167,;RP11-190A12.7,upstream_gene_variant,,ENST00000536764,;RP11-190A12.7,upstream_gene_variant,,ENST00000543372,;RP11-190A12.7,upstream_gene_variant,,ENST00000544342,;RP11-190A12.7,upstream_gene_variant,,ENST00000536779,;	uc001fui.2	c.1231C>T	1296/1842	1	1			c.1231C>T						1	SNP	c.(1231-1233)CGG>TGG	50	50			ovary(1)	1	Broad	nasopharyngeal epithelium specific protein 1			159846467		0.577	ENSG00000213085	2744	g.chr1:159846467G>A		mitochondrion|soluble fraction								-3.11568	KEEP	3	3	-1	52	42	3	3	-1	13.317339	52	42	0.069767	1	0	0	0	0	1	0	0	0	--	--		0	A			CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.R326W|CCDC19_uc001ful.2_Missense_Mutation_p.R326W|CCDC19_uc009wtc.1_Missense_Mutation_p.A410V	50	GBM-06-0214-TP	p.R411W	G	ATCTTCTTCCGCGCATTTTCC	NM_012337	NP_036469	159846467	Q9UL16	CCD19_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.151)		10	1249	-	A	A	all_hematologic(112;0.0597)		Missense_Mutation	411			Potential.			
CCDC22	0	broad.mit.edu	GRCh37	X	49093699	49093699	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376227.3:c.197G>A	p.Arg66His	p.R66H	ENST00000376227	NM_014008.3	66	cGc/cAc	0		A:0	1	A:0.0014		A	R/H	uc004dnd.1	protein_coding	YES	CCDS14322.1			197/1884									central_nervous_system(1)	1	c.(196-198)CGC>CAC			hmmpanther:PTHR15668,Pfam_domain:PF05667	coiled-coil domain containing 22		A:0		ENSP00000365401	A:0	17-Feb									rs199545573,COSM2155247,COSM2155248	17-Feb	.		ENST00000376227	Transcript	1	A:0.0003				ENSG00000101997	g.chrX:49093699G>A	28909			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=CCD22_HUMAN&rb=1&re=598&var=R66H	NA	getma.org/?cm=var&var=hg19,X,49093699,G,A&fts=all	R66H	--	--	1																																		CCDC22_uc011mna.1_Missense_Mutation_p.R66H|CCDC22_uc004dnc.1_RNA	0,1,1	1		possibly_damaging(0.672)	p.R66H	NM_014008	NP_054727	A:0	deleterious(0.02)	0,1,1	CCD22_HUMAN	CCDC22	HGNC	O60826	CCD22_HUMAN					2	353	+			UPI000006FFC7	66					SNV	CCDC22,missense_variant,p.Arg66His,ENST00000376227,NM_014008.3;CACNA1F,upstream_gene_variant,,ENST00000376265,NM_005183.2;CACNA1F,upstream_gene_variant,,ENST00000323022,NM_001256789.1;CACNA1F,upstream_gene_variant,,ENST00000376251,NM_001256790.1;CCDC22,non_coding_transcript_exon_variant,,ENST00000496651,;CCDC22,non_coding_transcript_exon_variant,,ENST00000490300,;HSPB1P2,upstream_gene_variant,,ENST00000448722,;	uc004dnd.1	c.197G>A	367/2319	2	2			c.197G>A						23	SNP	c.(196-198)CGC>CAC	32	32			central_nervous_system(1)	1	Broad	coiled-coil domain containing 22			49093699		0.587	ENSG00000101997	2746	g.chrX:49093699G>A										91.549604	KEEP	19	17	-1	27	49	19	17	-1	93.562799	27	49	0.346939	1	0	0	0	0	1	0	0	0	--	--		0	A			CCDC22_uc011mna.1_Missense_Mutation_p.R66H|CCDC22_uc004dnc.1_RNA	142	GBM-14-1034-TP	p.R66H	G	GCCCGGTTCCGCCTGGCCATG	NM_014008	NP_054727	49093699	O60826	CCD22_HUMAN	0			2	353	+	A	A			Missense_Mutation	66						
CCDC27	0	broad.mit.edu	GRCh37	1	3684010	3684010	+	splice_donor_variant	Splice_Site	SNP	G	G	A			TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294600.2:c.1743+1G>A		p.X581_splice	ENST00000294600	NM_152492.2			0			1			A		uc001akv.2	protein_coding	YES	CCDS50.1			1743/1971									skin(1)	1	c.e10+1				coiled-coil domain containing 27				ENSP00000294600											COSM3400717		.		ENST00000294600	Transcript						ENSG00000162592	g.chr1:3684010G>A	26546			HIGH	11-Oct							--	--	1																																			1	1			p.R581_splice	NM_152492	NP_689705			1	CCD27_HUMAN	CCDC27	HGNC	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)			10	1824	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	UPI000013E186						SNV	CCDC27,splice_donor_variant,,ENST00000294600,NM_152492.2;CCDC27,splice_donor_variant,,ENST00000462521,;	uc001akv.2	c.1743_splice	-/2176	5	2			c.1743_splice						1	SNP	c.e10+1	43	43			skin(1)	1	Broad	coiled-coil domain containing 27			3684010		0.647	ENSG00000162592	2750	g.chr1:3684010G>A										0.706238	KEEP	2	1	-1	14	18	2	1	-1	6.527857	14	18	0.088235	1	0	0	0	0	0	0	0	1	--	--		0	A				235	GBM-32-2491-TP	p.R581_splice	G	CCAGTCCAGGGTATGCCCAGC	NM_152492	NP_689705	3684010	Q2M243	CCD27_HUMAN	0		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	10	1824	+	A	A	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	Splice_Site							
CCDC27	148870		GRCh37	1	3687985	3687985	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000294600.2:c.1869C>T	p.Ser623=	p.S623=	ENST00000294600	NM_152492.2	623	agC/agT	0																																																																																																																																																																																																																																												
CCDC33	80125	broad.mit.edu	GRCh37	15	74554903	74554903	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0152-01	TCGA-06-0152-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398814.3:c.308C>T	p.Ala103Val	p.A103V	ENST00000398814	NM_025055.4	103	gCa/gTa	0			1			T	A/V	uc002axo.2	protein_coding	YES	CCDS42058.1			308/2268									ovary(3)|skin(2)	5	c.(307-309)GCA>GTA			Superfamily_domains:SSF49562,Pfam_domain:PF00168,Gene3D:2.60.40.150,hmmpanther:PTHR21623,hmmpanther:PTHR21623:SF2	coiled-coil domain containing 33 isoform 1				ENSP00000381795		19-Mar									COSM2149825,COSM2149826	19-Mar	.		ENST00000398814	Transcript					protein binding	ENSG00000140481	g.chr15:74554903C>T	26552			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=CCD33_HUMAN&rb=240&re=326&var=A306V	NA	getma.org/?cm=var&var=hg19,15,74554903,C,T&fts=all	A306V	--	--	1																																			1,1	1		benign(0.001)	p.A103V	NM_025055	NP_079331		tolerated(0.43)	1,1	CCD33_HUMAN	CCDC33	HGNC	Q8N5R6	CCD33_HUMAN					3	702	+			UPI0000E671FE	306			C2.		SNV	CCDC33,missense_variant,p.Ala306Val,ENST00000321288,;CCDC33,missense_variant,p.Ala103Val,ENST00000398814,NM_025055.4;CCDC33,upstream_gene_variant,,ENST00000558659,;	uc002axo.2	c.308C>T	739/2787	1	1			c.308C>T						15	SNP	c.(307-309)GCA>GTA	16	16			ovary(3)|skin(2)	5	Broad	coiled-coil domain containing 33 isoform 1			74554903		0.587	ENSG00000140481	2755	g.chr15:74554903C>T			protein binding							33.590392	KEEP	7	7	-1	10	11	7	7	-1	34.029987	10	11	0.375	1	0	0	0	0	1	0	0	0	--	--		0	T				25	GBM-06-0152-TP	p.A103V	C	GCTGAGGATGCAGGGCAAGAA	NM_025055	NP_079331	74554903	Q8N5R6	CCD33_HUMAN	0			3	702	+	T	T			Missense_Mutation	306			C2.			
CCDC33	80125	broad.mit.edu	GRCh37	15	74573074	74573074	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01	TCGA-06-2564-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398814.3:c.955C>T	p.Arg319Cys	p.R319C	ENST00000398814	NM_025055.4	319	Cgt/Tgt	0	T:0		1			T	R/C	uc002axo.2	protein_coding	YES	CCDS42058.1			955/2268									ovary(3)|skin(2)	5	c.(955-957)CGT>TGT			hmmpanther:PTHR21623,hmmpanther:PTHR21623:SF2	coiled-coil domain containing 33 isoform 1			T:0.0004	ENSP00000381795		19-Sep	0.00019		8.67E-05			0.000335			rs201740638,COSM1938340,COSM1938341	19-Sep	.		ENST00000398814	Transcript					protein binding	ENSG00000140481	g.chr15:74573074C>T	26552			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=CCD33_HUMAN&rb=329&re=609&var=R522C	NA	getma.org/?cm=var&var=hg19,15,74573074,C,T&fts=all	R522C	--	--	1																																		CCDC33_uc002axp.2_Missense_Mutation_p.R141C	0,1,1	1		benign(0)	p.R319C	NM_025055	NP_079331		deleterious(0.05)	0,1,1	CCD33_HUMAN	CCDC33	HGNC	Q8N5R6	CCD33_HUMAN					9	1349	+			UPI0000E671FE	522					SNV	CCDC33,missense_variant,p.Arg522Cys,ENST00000321288,;CCDC33,missense_variant,p.Arg319Cys,ENST00000398814,NM_025055.4;CCDC33,missense_variant,p.Arg200Cys,ENST00000558659,;	uc002axo.2	c.955C>T	1386/2787	1	1			c.955C>T						15	SNP	c.(955-957)CGT>TGT	3	3			ovary(3)|skin(2)	5	Broad	coiled-coil domain containing 33 isoform 1			74573074		0.612	ENSG00000140481	2755	g.chr15:74573074C>T			protein binding							145.461293	KEEP	29	31	-1	58	68	29	31	-1	148.864207	58	68	0.34	1	0	0	0	0	1	0	0	0	--	--		0	T			CCDC33_uc002axp.2_Missense_Mutation_p.R141C	87	GBM-06-2564-TP	p.R319C	C	GCTAAAGAGCCGTTTGTACCA	NM_025055	NP_079331	74573074	Q8N5R6	CCD33_HUMAN	0			9	1349	+	T	T			Missense_Mutation	522						
CCDC37	0	broad.mit.edu	GRCh37	3	126138549	126138549	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2629-01	TCGA-19-2629-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000352312.1:c.801G>A	p.Ser267=	p.S267=	ENST00000352312	NM_182628.2	267	tcG/tcA	0			1			A	S	uc003eiu.1	protein_coding	YES	CCDS3037.1			801/1836									ovary(1)|skin(1)	2	c.(799-801)TCG>TCA			Pfam_domain:PF13863,hmmpanther:PTHR21683,hmmpanther:PTHR21683:SF5	coiled-coil domain containing 37				ENSP00000344749		17-Sep	8.24E-06					1.50E-05			rs757315451,COSM1037730	17-Sep	.		ENST00000352312	Transcript						ENSG00000163885	g.chr3:126138549G>A	26842			LOW								--	--	1																																		CCDC37_uc010hsg.1_Silent_p.S268S	0,1	1			p.S267S	NM_182628	NP_872434			0,1	CCD37_HUMAN	CCDC37	HGNC	Q494V2	CCD37_HUMAN		GBM - Glioblastoma multiforme(114;0.166)			9	900	+			UPI000013E315	267					SNV	CCDC37,synonymous_variant,p.=,ENST00000393425,;CCDC37,synonymous_variant,p.=,ENST00000352312,NM_182628.2;CCDC37,synonymous_variant,p.=,ENST00000505024,;CCDC37,upstream_gene_variant,,ENST00000507830,;CCDC37,downstream_gene_variant,,ENST00000533201,;CCDC37,downstream_gene_variant,,ENST00000503905,;	uc003eiu.1	c.801G>A	900/2086	1	1			c.801G>A						3	SNP	c.(799-801)TCG>TCA	56	56			ovary(1)|skin(1)	2	Broad	coiled-coil domain containing 37			126138549		0.488	ENSG00000163885	2758	g.chr3:126138549G>A										31.942534	KEEP	10	18	-1	79	86	10	18	-1	52.284814	79	86	0.1375	1	0	0	0	0	0	0	1	0	--	--		0	A			CCDC37_uc010hsg.1_Silent_p.S268S	166	GBM-19-2629-TP	p.S267S	G	ACAAGCTGTCGCCCAAGGAGT	NM_182628	NP_872434	126138549	Q494V2	CCD37_HUMAN	0		GBM - Glioblastoma multiforme(114;0.166)	9	900	+	A	A			Silent	267						
CCDC37			GRCh37	3	126133023	126133023	+	splice_donor_variant	Splice_Site	SNP	G	G	A			TCGA-06-0240-01	TCGA-06-0240-01																				ENST00000352312.1:c.225+1G>A		p.X75_splice	ENST00000352312	NM_182628.2	75		0																																																																																																																																																																																																																																												
CCDC41	0	broad.mit.edu	GRCh37	12	94761893	94761893	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-81-5910-01	TCGA-81-5910-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397809.5:c.1133G>A	p.Arg378His	p.R378H	ENST00000397809	NM_016122.2	378	cGt/cAt	0			1			T	R/H	uc001tdd.2	protein_coding	YES	CCDS41820.1			1133/2106										0	c.(1132-1134)CGT>CAT			hmmpanther:PTHR23170,hmmpanther:PTHR23170:SF2	NY-REN-58 antigen				ENSP00000380911		17-Oct	8.28E-06					1.54E-05			rs781589454,COSM3399186	17-Oct	.		ENST00000397809	Transcript	1					ENSG00000173588	g.chr12:94761893C>T	17966			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=CCD41_HUMAN&rb=133&re=591&var=R370H	NA	getma.org/?cm=var&var=hg19,12,94761893,C,T&fts=all	R370H	--	--	1																																		CCDC41_uc001tde.2_Missense_Mutation_p.R378H|CCDC41_uc009zsw.1_RNA	0,1	1		possibly_damaging(0.885)	p.R378H	NM_016122	NP_057206		deleterious(0)	0,1		CCDC41	HGNC	Q9Y592	CCD41_HUMAN			J3KNW7_HUMAN,H0YHH5_HUMAN		10	1719	-			UPI0000D4BD6F	370			Potential.		SNV	CCDC41,missense_variant,p.Arg378His,ENST00000397809,NM_016122.2;CCDC41,missense_variant,p.Arg378His,ENST00000339839,NM_001042399.1;CCDC41,missense_variant,p.Arg345His,ENST00000397807,;CCDC41,downstream_gene_variant,,ENST00000547575,;CCDC41,downstream_gene_variant,,ENST00000549352,;CCDC41,missense_variant,p.Arg345His,ENST00000547232,;	uc001tdd.2	c.1133G>A	1683/3773	1	1			c.1133G>A						12	SNP	c.(1132-1134)CGT>CAT	14	14				0	Broad	NY-REN-58 antigen			94761893		0.333	ENSG00000173588	2762	g.chr12:94761893C>T										36.661686	KEEP	6	9	-1	10	18	6	9	-1	37.748457	10	18	0.325	1	0	0	0	0	1	0	0	0	--	--		0	T			CCDC41_uc001tde.2_Missense_Mutation_p.R378H|CCDC41_uc009zsw.1_RNA	289	GBM-81-5910-TP	p.R378H	C	TTGTACTTTACGTATTAATTC	NM_016122	NP_057206	94761893	Q9Y592	CCD41_HUMAN	0			10	1719	-	T	T			Missense_Mutation	370			Potential.			
CCDC41			GRCh37	12	94761707	94761707	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000397809.5:c.1206G>C	p.Glu402Asp	p.E402D	ENST00000397809	NM_016122.2	402	gaG/gaC	0																																																																																																																																																																																																																																												
CCDC42	146849	broad.mit.edu	GRCh37	17	8638499	8638499	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs141089641	byFrequency	TCGA-06-0195-01	TCGA-06-0195-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000293845.3:c.788C>T	p.Thr263Met	p.T263M	ENST00000293845	NM_144681.2	263	aCg/aTg	0	A:0	A:0	1	A:0.0014		A	T/M	uc002gln.2	protein_coding	YES	CCDS11145.1			788/951									ovary(1)	1	c.(787-789)ACG>ATG			hmmpanther:PTHR21683,hmmpanther:PTHR21683:SF4	coiled-coil domain containing 42 isoform 1		A:0	A:0.0015	ENSP00000293845	A:0.001	7-Jun	0.000692	0.000289	0.000432		0.000152	0.0011	0.00111	6.06E-05	rs141089641,COSM3403407	7-Jun	common_variant		ENST00000293845	Transcript		A:0.0004				ENSG00000161973	g.chr17:8638499G>A	26528			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=CCD42_HUMAN&rb=171&re=316&var=T263M	NA	getma.org/?cm=var&var=hg19,17,8638499,G,A&fts=all	T263M	--	--	1																																		CCDC42_uc002glo.2_Missense_Mutation_p.T189M	0,1	1		possibly_damaging(0.88)	p.T263M	NM_144681	NP_653282	A:0	deleterious(0.04)	0,1	CCD42_HUMAN	CCDC42	HGNC	Q96M95	CCD42_HUMAN					6	1015	-			UPI000013E127	263					SNV	CCDC42,missense_variant,p.Thr263Met,ENST00000293845,NM_144681.2;CCDC42,missense_variant,p.Thr189Met,ENST00000539522,NM_001158261.1;	uc002gln.2	c.788C>T	1015/1374	2	2			c.788C>T						17	SNP	c.(787-789)ACG>ATG	48	48			ovary(1)	1	Broad	coiled-coil domain containing 42 isoform 1			8638499		0.587	ENSG00000161973	2763	g.chr17:8638499G>A										103.814513	KEEP	19	21	-1	46	30	19	21	-1	105.90643	46	30	0.351852	1	0	0	0	0	1	0	0	0	--	--		0	A			CCDC42_uc002glo.2_Missense_Mutation_p.T189M	45	GBM-06-0195-TP	p.T263M	G	GAGGTTCAGCGTGGCCATCTT	NM_144681	NP_653282	8638499	Q96M95	CCD42_HUMAN	0			6	1015	-	A	A			Missense_Mutation	263						
CCDC42	0	broad.mit.edu	GRCh37	17	8644917	8644917	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000293845.3:c.367C>T	p.Gln123Ter	p.Q123*	ENST00000293845	NM_144681.2	123	Cag/Tag	0			1			A	Q/*	uc002gln.2	protein_coding	YES	CCDS11145.1			367/951									ovary(1)	1	c.(367-369)CAG>TAG			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF13863,hmmpanther:PTHR21683,hmmpanther:PTHR21683:SF4	coiled-coil domain containing 42 isoform 1				ENSP00000293845		7-Apr									COSM3403409	7-Apr	.		ENST00000293845	Transcript						ENSG00000161973	g.chr17:8644917G>A	26528			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,17,8644917,G,A&fts=all	Q123*	--	--	1																																		CCDC42_uc002glo.2_Nonsense_Mutation_p.Q123*	1	1			p.Q123*	NM_144681	NP_653282			1	CCD42_HUMAN	CCDC42	HGNC	Q96M95	CCD42_HUMAN					4	594	-			UPI000013E127	123			Potential.		SNV	CCDC42,stop_gained,p.Gln123Ter,ENST00000293845,NM_144681.2;CCDC42,stop_gained,p.Gln123Ter,ENST00000539522,NM_001158261.1;CCDC42,downstream_gene_variant,,ENST00000581598,;	uc002gln.2	c.367C>T	594/1374	5	2			c.367C>T						17	SNP	c.(367-369)CAG>TAG	28	28			ovary(1)	1	Broad	coiled-coil domain containing 42 isoform 1			8644917		0.602	ENSG00000161973	2763	g.chr17:8644917G>A										-0.984364	KEEP	8	4	-1	68	71	8	4	-1	19.630495	68	71	0.078947	1	0	0	0	0	0	1	0	0	--	--		0	A			CCDC42_uc002glo.2_Nonsense_Mutation_p.Q123*	197	GBM-27-1838-TP	p.Q123*	G	GTCAGCTCCTGCATGTGCTGG	NM_144681	NP_653282	8644917	Q96M95	CCD42_HUMAN	0			4	594	-	A	A			Nonsense_Mutation	123			Potential.			
CCDC42	0	broad.mit.edu	GRCh37	17	8638565	8638565	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01	TCGA-41-3393-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000293845.3:c.722G>A	p.Arg241His	p.R241H	ENST00000293845	NM_144681.2	241	cGc/cAc	0			1			T	R/H	uc002gln.2	protein_coding	YES	CCDS11145.1			722/951									ovary(1)	1	c.(721-723)CGC>CAC			hmmpanther:PTHR21683,hmmpanther:PTHR21683:SF4	coiled-coil domain containing 42 isoform 1				ENSP00000293845		7-Jun									COSM3403408	7-Jun	.		ENST00000293845	Transcript						ENSG00000161973	g.chr17:8638565C>T	26528			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=CCD42_HUMAN&rb=171&re=316&var=R241H	NA	getma.org/?cm=var&var=hg19,17,8638565,C,T&fts=all	R241H	--	--	1																																		CCDC42_uc002glo.2_Missense_Mutation_p.R167H	1	1		probably_damaging(0.994)	p.R241H	NM_144681	NP_653282		tolerated(0.44)	1	CCD42_HUMAN	CCDC42	HGNC	Q96M95	CCD42_HUMAN					6	949	-			UPI000013E127	241					SNV	CCDC42,missense_variant,p.Arg241His,ENST00000293845,NM_144681.2;CCDC42,missense_variant,p.Arg167His,ENST00000539522,NM_001158261.1;	uc002gln.2	c.722G>A	949/1374	2	2			c.722G>A						17	SNP	c.(721-723)CGC>CAC	21	21			ovary(1)	1	Broad	coiled-coil domain containing 42 isoform 1			8638565		0.473	ENSG00000161973	2763	g.chr17:8638565C>T										0.94045	KEEP	5	3	-1	54	40	5	3	-1	16.822412	54	40	0.086957	1	0	0	0	0	1	0	0	0	--	--		0	T			CCDC42_uc002glo.2_Missense_Mutation_p.R167H	255	GBM-41-3393-TP	p.R241H	C	GTGCGCCCAGCGAGATTCCTG	NM_144681	NP_653282	8638565	Q96M95	CCD42_HUMAN	0			6	949	-	T	T			Missense_Mutation	241						
CCDC47	57003	broad.mit.edu	GRCh37	17	61830101	61830101	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0881-01	TCGA-06-0881-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000225726.5:c.1093G>A	p.Val365Met	p.V365M	ENST00000225726	NM_020198.2	365	Gtg/Atg	0			1			T	V/M	uc002jbs.3	protein_coding	YES	CCDS11643.1			1093/1452										0	c.(1093-1095)GTG>ATG			hmmpanther:PTHR12883,Pfam_domain:PF07946	coiled-coil domain containing 47 precursor				ENSP00000225726		13-Oct									COSM3403108,COSM3403109	13-Oct	.		ENST00000225726	Transcript				integral to membrane	protein binding	ENSG00000108588	g.chr17:61830101C>T	24856			MODERATE		0.88	low	getma.org/?cm=msa&ty=f&p=CCD47_HUMAN&rb=133&re=471&var=V365M	NA	getma.org/?cm=var&var=hg19,17,61830101,C,T&fts=all	V365M	--	--	1																																OREG0031500	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	CCDC47_uc010ddx.2_Missense_Mutation_p.V365M|CCDC47_uc002jbt.2_Missense_Mutation_p.V365M	1,1	1		probably_damaging(0.986)	p.V365M	NM_020198	NP_064583		tolerated(0.16)	1,1	CCD47_HUMAN	CCDC47	HGNC	Q96A33	CCD47_HUMAN					10	1429	-			UPI000003B0A2	365					SNV	CCDC47,missense_variant,p.Val365Met,ENST00000225726,NM_020198.2;CCDC47,missense_variant,p.Val365Met,ENST00000403162,;CCDC47,missense_variant,p.Val365Met,ENST00000582252,;RP11-51F16.8,upstream_gene_variant,,ENST00000580553,;CCDC47,downstream_gene_variant,,ENST00000582331,;	uc002jbs.3	c.1093G>A	1476/3466	2	2			c.1093G>A						17	SNP	c.(1093-1095)GTG>ATG	42	42				0	Broad	coiled-coil domain containing 47 precursor			61830101		0.373	ENSG00000108588	2767	g.chr17:61830101C>T		integral to membrane	protein binding							-17.150323	KEEP	2	6	-1	101	74	2	6	-1	18.896658	101	74	0.048193	1	0	0	0	0	1	0	0	0	--	--		0	T	OREG0031500	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	CCDC47_uc010ddx.2_Missense_Mutation_p.V365M|CCDC47_uc002jbt.2_Missense_Mutation_p.V365M	76	GBM-06-0881-TP	p.V365M	C	GAATACTTACCATTAAATGTA	NM_020198	NP_064583	61830101	Q96A33	CCD47_HUMAN	0			10	1429	-	T	T			Missense_Mutation	365						
CCDC54	0	broad.mit.edu	GRCh37	3	107096949	107096949	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-12-0821-01	TCGA-12-0821-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261058.1:c.515A>C	p.Lys172Thr	p.K172T	ENST00000261058	NM_032600.2	172	aAa/aCa	0			1			C	K/T	uc003dwi.1	protein_coding	YES	CCDS2949.1			515/987										0	c.(514-516)AAA>ACA				coiled-coil domain containing 54				ENSP00000261058		1-Jan									COSM3408091	1-Jan	.		ENST00000261058	Transcript						ENSG00000138483	g.chr3:107096949A>C	30703			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=CCD54_HUMAN&rb=101&re=326&var=K172T	NA	getma.org/?cm=var&var=hg19,3,107096949,A,C&fts=all	K172T	--	--	1																																			1	1		possibly_damaging(0.866)	p.K172T	NM_032600	NP_115989		deleterious(0.04)	1	CCD54_HUMAN	CCDC54	HGNC	Q8NEL0	CCD54_HUMAN					1	762	+			UPI000006EB42	172					SNV	CCDC54,missense_variant,p.Lys172Thr,ENST00000261058,NM_032600.2;RP11-446H18.5,intron_variant,,ENST00000593837,;RP11-446H18.5,intron_variant,,ENST00000599431,;RP11-446H18.5,downstream_gene_variant,,ENST00000595232,;	uc003dwi.1	c.515A>C	762/1294	3	3			c.515A>C						3	SNP	c.(514-516)AAA>ACA	64	64				0	Broad	coiled-coil domain containing 54			107096949		0.433	ENSG00000138483	2773	g.chr3:107096949A>C										250.906175	KEEP	63	21	-1	86	27	63	21	-1	251.802363	86	27	0.423729	1	0	0	0	0	1	0	0	0	--	--		0	C				123	GBM-12-0821-TP	p.K172T	A	CTGCTTTACAAACTCATACAA	NM_032600	NP_115989	107096949	Q8NEL0	CCD54_HUMAN	0			1	762	+	C	C			Missense_Mutation	172						
CCDC60	0	broad.mit.edu	GRCh37	12	119966451	119966451	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01	TCGA-12-3649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327554.2:c.1261C>T	p.Arg421Cys	p.R421C	ENST00000327554	NM_178499.3	421	Cgt/Tgt	0	T:0		1			T	R/C	uc001txe.2	protein_coding	YES	CCDS9190.1			1261/1653									ovary(2)|upper_aerodigestive_tract(1)	3	c.(1261-1263)CGT>TGT				coiled-coil domain containing 60			T:0.0002	ENSP00000333374		14-Dec	1.65E-05			0.000116		1.50E-05			rs370439015,COSM2174307	14-Dec	.		ENST00000327554	Transcript						ENSG00000183273	g.chr12:119966451C>T	28610			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=CCD60_HUMAN&rb=382&re=550&var=R421C	NA	getma.org/?cm=var&var=hg19,12,119966451,C,T&fts=all	R421C	--	--	1																																		uc001txf.2_Intron	0,1	1		possibly_damaging(0.711)	p.R421C	NM_178499	NP_848594		tolerated(0.18)	0,1	CCD60_HUMAN	CCDC60	HGNC	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	F5H5H4_HUMAN		12	1726	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		UPI000019906E	421					SNV	CCDC60,missense_variant,p.Arg421Cys,ENST00000327554,NM_178499.3;RP11-768F21.1,intron_variant,,ENST00000509470,;RP11-768F21.1,intron_variant,,ENST00000537366,;RP11-768F21.1,intron_variant,,ENST00000535511,;	uc001txe.2	c.1261C>T	1726/2450	1	1			c.1261C>T						12	SNP	c.(1261-1263)CGT>TGT	14	14			ovary(2)|upper_aerodigestive_tract(1)	3	Broad	coiled-coil domain containing 60			119966451		0.428	ENSG00000183273	2780	g.chr12:119966451C>T										-57.52904	KEEP	4	3	-1	130	151	4	3	-1	11.869477	130	151	0.025271	1	0	0	0	0	1	0	0	0	--	--		0	T			uc001txf.2_Intron	125	GBM-12-3649-TP	p.R421C	C	CCAGAAGTTCCGTGCTTTTGT	NM_178499	NP_848594	119966451	Q8IWA6	CCD60_HUMAN	0		BRCA - Breast invasive adenocarcinoma(302;0.207)	12	1726	+	T	T	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		Missense_Mutation	421						
CCDC60	0	broad.mit.edu	GRCh37	12	119942953	119942953	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01	TCGA-12-3652-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327554.2:c.728G>A	p.Arg243Gln	p.R243Q	ENST00000327554	NM_178499.3	243	cGg/cAg	0			1			A	R/Q	uc001txe.2	protein_coding	YES	CCDS9190.1			728/1653									ovary(2)|upper_aerodigestive_tract(1)	3	c.(727-729)CGG>CAG			Low_complexity_(Seg):seg	coiled-coil domain containing 60				ENSP00000333374		14-Jul	8.24E-06							6.06E-05	rs750397643,COSM3398424	14-Jul	.		ENST00000327554	Transcript						ENSG00000183273	g.chr12:119942953G>A	28610			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=CCD60_HUMAN&rb=31&re=381&var=R243Q	NA	getma.org/?cm=var&var=hg19,12,119942953,G,A&fts=all	R243Q	--	--	1																																		uc001txf.2_Intron	0,1	1		probably_damaging(1)	p.R243Q	NM_178499	NP_848594		tolerated(0.1)	0,1	CCD60_HUMAN	CCDC60	HGNC	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	F5H5H4_HUMAN		7	1193	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		UPI000019906E	243					SNV	CCDC60,missense_variant,p.Arg243Gln,ENST00000327554,NM_178499.3;RP11-768F21.1,intron_variant,,ENST00000509470,;RP11-768F21.1,intron_variant,,ENST00000537366,;RP11-768F21.1,intron_variant,,ENST00000535511,;	uc001txe.2	c.728G>A	1193/2450	2	2			c.728G>A						12	SNP	c.(727-729)CGG>CAG	27	27			ovary(2)|upper_aerodigestive_tract(1)	3	Broad	coiled-coil domain containing 60			119942953		0.557	ENSG00000183273	2780	g.chr12:119942953G>A										340.169441	KEEP	52	68	-1	66	79	52	68	-1	340.733368	66	79	0.448133	1	0	0	0	0	1	0	0	0	--	--		0	A			uc001txf.2_Intron	127	GBM-12-3652-TP	p.R243Q	G	AGTCTGAGTCGGGCCAGTGGG	NM_178499	NP_848594	119942953	Q8IWA6	CCD60_HUMAN	0		BRCA - Breast invasive adenocarcinoma(302;0.207)	7	1193	+	A	A	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		Missense_Mutation	243						
CCDC60	0	broad.mit.edu	GRCh37	12	119968731	119968731	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-2554-01	TCGA-14-2554-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327554.2:c.1414G>A	p.Ala472Thr	p.A472T	ENST00000327554	NM_178499.3	472	Gcc/Acc	0			1			A	A/T	uc001txe.2	protein_coding	YES	CCDS9190.1			1414/1653									ovary(2)|upper_aerodigestive_tract(1)	3	c.(1414-1416)GCC>ACC				coiled-coil domain containing 60				ENSP00000333374		13/14	8.24E-06							6.06E-05	rs758751561,COSM1318053	13/14	.		ENST00000327554	Transcript						ENSG00000183273	g.chr12:119968731G>A	28610			MODERATE		2.08	medium	getma.org/?cm=msa&ty=f&p=CCD60_HUMAN&rb=382&re=550&var=A472T	NA	getma.org/?cm=var&var=hg19,12,119968731,G,A&fts=all	A472T	--	--	1																																		uc001txf.2_Intron	0,1	1		probably_damaging(0.918)	p.A472T	NM_178499	NP_848594		tolerated(0.3)	0,1	CCD60_HUMAN	CCDC60	HGNC	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	F5H5H4_HUMAN		13	1879	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		UPI000019906E	472					SNV	CCDC60,missense_variant,p.Ala472Thr,ENST00000327554,NM_178499.3;RP11-768F21.1,intron_variant,,ENST00000509470,;RP11-768F21.1,intron_variant,,ENST00000537366,;RP11-768F21.1,intron_variant,,ENST00000535511,;	uc001txe.2	c.1414G>A	1879/2450	2	2			c.1414G>A						12	SNP	c.(1414-1416)GCC>ACC	25	25			ovary(2)|upper_aerodigestive_tract(1)	3	Broad	coiled-coil domain containing 60			119968731		0.483	ENSG00000183273	2780	g.chr12:119968731G>A										84.384016	KEEP	13	27	-1	67	89	13	27	-1	98.251997	67	89	0.20904	1	0	0	0	0	1	0	0	0	--	--		0	A			uc001txf.2_Intron	150	GBM-14-2554-TP	p.A472T	G	CTTCCGCCCCGCCAAAAAGAT	NM_178499	NP_848594	119968731	Q8IWA6	CCD60_HUMAN	0		BRCA - Breast invasive adenocarcinoma(302;0.207)	13	1879	+	A	A	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		Missense_Mutation	472						
CCDC60	0	broad.mit.edu	GRCh37	12	119773039	119773039	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5139-01	TCGA-26-5139-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327554.2:c.58C>T	p.Arg20Trp	p.R20W	ENST00000327554	NM_178499.3	20	Cgg/Tgg	0			1			T	R/W	uc001txe.2	protein_coding	YES	CCDS9190.1			58/1653									ovary(2)|upper_aerodigestive_tract(1)	3	c.(58-60)CGG>TGG				coiled-coil domain containing 60				ENSP00000333374		14-Jan	3.29E-05		8.67E-05			4.51E-05			rs748209413,COSM1247537	14-Jan	.		ENST00000327554	Transcript						ENSG00000183273	g.chr12:119773039C>T	28610			MODERATE		-0.695	neutral	getma.org/?cm=msa&ty=f&p=CCD60_HUMAN&rb=1&re=30&var=R20W	NA	getma.org/?cm=var&var=hg19,12,119773039,C,T&fts=all	R20W	--	--	1																																			0,1	1		benign(0)	p.R20W	NM_178499	NP_848594		tolerated_low_confidence(0.35)	0,1	CCD60_HUMAN	CCDC60	HGNC	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	F5H5H4_HUMAN		1	523	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		UPI000019906E	20					SNV	CCDC60,missense_variant,p.Arg20Trp,ENST00000327554,NM_178499.3;CCDC60,missense_variant,p.Arg20Trp,ENST00000536742,;CCDC60,missense_variant,p.Arg20Trp,ENST00000539847,;CCDC60,non_coding_transcript_exon_variant,,ENST00000546345,;CCDC60,non_coding_transcript_exon_variant,,ENST00000535685,;	uc001txe.2	c.58C>T	523/2450	2	2			c.58C>T						12	SNP	c.(58-60)CGG>TGG	24	24			ovary(2)|upper_aerodigestive_tract(1)	3	Broad	coiled-coil domain containing 60			119773039		0.463	ENSG00000183273	2780	g.chr12:119773039C>T										145.710824	KEEP	31	37	-1	63	66	31	37	-1	149.433118	63	66	0.341317	1	0	0	0	0	1	0	0	0	--	--		0	T				186	GBM-26-5139-TP	p.R20W	C	GGGGGCTGTCCGGCCCTTTTA	NM_178499	NP_848594	119773039	Q8IWA6	CCD60_HUMAN	0		BRCA - Breast invasive adenocarcinoma(302;0.207)	1	523	+	T	T	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		Missense_Mutation	20						
CCDC63	0	broad.mit.edu	GRCh37	12	111336859	111336859	+	synonymous_variant	Silent	SNP	C	C	T	rs115748204	by1000genomes	TCGA-32-5222-01	TCGA-32-5222-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308208.5:c.1272C>T	p.Asp424=	p.D424=	ENST00000308208	NM_152591.1	424	gaC/gaT	0	T:0.0002	T:0.0008	1	T:0		T	D	uc001trv.1	protein_coding	YES	CCDS9151.1			1272/1692									skin(6)|ovary(1)|pancreas(1)	8	c.(1270-1272)GAC>GAT			hmmpanther:PTHR21694,hmmpanther:PTHR21694:SF20	coiled-coil domain containing 63		T:0	T:0	ENSP00000312399	T:0	12-Oct	0.000502	0.000384		0.000116				0.0034	rs115748204,COSM3398349	12-Oct	common_variant		ENST00000308208	Transcript		T:0.0024				ENSG00000173093	g.chr12:111336859C>T	26669			LOW								--	--	1																																		CCDC63_uc010sye.1_Silent_p.D384D|CCDC63_uc001trw.1_Silent_p.D339D	0,1	1			p.D424D	NM_152591	NP_689804	T:0.0112		0,1	CCD63_HUMAN	CCDC63	HGNC	Q8NA47	CCD63_HUMAN			G3V217_HUMAN,B4DY03_HUMAN		10	1467	+			UPI000006F794	424					SNV	CCDC63,synonymous_variant,p.=,ENST00000308208,NM_152591.1;CCDC63,synonymous_variant,p.=,ENST00000545036,NM_001286243.1;CCDC63,synonymous_variant,p.=,ENST00000552694,NM_001286244.1;	uc001trv.1	c.1272C>T	1514/1993	2	2			c.1272C>T						12	SNP	c.(1270-1272)GAC>GAT	36	36			skin(6)|ovary(1)|pancreas(1)	8	Broad	coiled-coil domain containing 63			111336859		0.498	ENSG00000173093	2783	g.chr12:111336859C>T										126.668315	KEEP	25	23	-1	48	60	25	23	-1	131.459516	48	60	0.311258	1	0	0	0	0	0	0	1	0	--	--		0	T			CCDC63_uc010sye.1_Silent_p.D384D|CCDC63_uc001trw.1_Silent_p.D339D	249	GBM-32-5222-TP	p.D424D	C	TAAACTGTGACGCCACCAAGA	NM_152591	NP_689804	111336859	Q8NA47	CCD63_HUMAN	0			10	1467	+	T	T			Silent	424						
CCDC63	0	broad.mit.edu	GRCh37	12	111322003	111322003	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308208.5:c.1023G>A	p.Thr341=	p.T341=	ENST00000308208	NM_152591.1	341	acG/acA	0		A:0	1	A:0		A	T	uc001trv.1	protein_coding	YES	CCDS9151.1			1023/1692									skin(6)|ovary(1)|pancreas(1)	8	c.(1021-1023)ACG>ACA			hmmpanther:PTHR21694,hmmpanther:PTHR21694:SF20	coiled-coil domain containing 63		A:0.002		ENSP00000312399	A:0	12-Aug	2.47E-05			0.000231		1.50E-05			rs549200490,COSM3398348	12-Aug	.		ENST00000308208	Transcript		A:0.0004				ENSG00000173093	g.chr12:111322003G>A	26669			LOW								--	--	1																																		CCDC63_uc010sye.1_Silent_p.T301T|CCDC63_uc001trw.1_Silent_p.T256T	0,1	1			p.T341T	NM_152591	NP_689804	A:0		0,1	CCD63_HUMAN	CCDC63	HGNC	Q8NA47	CCD63_HUMAN			G3V217_HUMAN,B4DY03_HUMAN		8	1218	+			UPI000006F794	341			Potential.		SNV	CCDC63,synonymous_variant,p.=,ENST00000308208,NM_152591.1;CCDC63,synonymous_variant,p.=,ENST00000545036,NM_001286243.1;CCDC63,synonymous_variant,p.=,ENST00000552694,NM_001286244.1;CCDC63,downstream_gene_variant,,ENST00000550317,;	uc001trv.1	c.1023G>A	1265/1993	2	2			c.1023G>A						12	SNP	c.(1021-1023)ACG>ACA	26	26			skin(6)|ovary(1)|pancreas(1)	8	Broad	coiled-coil domain containing 63			111322003		0.552	ENSG00000173093	2783	g.chr12:111322003G>A										137.500277	KEEP	24	22	-1	38	36	24	22	-1	138.914321	38	36	0.380531	1	0	0	0	0	0	0	1	0	--	--		0	A			CCDC63_uc010sye.1_Silent_p.T301T|CCDC63_uc001trw.1_Silent_p.T256T	271	GBM-76-4932-TP	p.T341T	G	CGTATGTCACGGAGCTCAACA	NM_152591	NP_689804	111322003	Q8NA47	CCD63_HUMAN	0			8	1218	+	A	A			Silent	341			Potential.			
CCDC68	80323	broad.mit.edu	GRCh37	18	52604167	52604167	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01	TCGA-06-1804-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591504.1:c.368G>A	p.Gly123Glu	p.G123E	ENST00000591504	NM_025214.2	123	gGa/gAa	0			1			T	G/E	uc002lfs.2	protein_coding		CCDS11959.1			368/1008									skin(1)	1	c.(367-369)GGA>GAA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23171:SF3,hmmpanther:PTHR23171	coiled-coil domain containing 68				ENSP00000337209		12-Jun	2.47E-05					4.50E-05			rs765362415,COSM1711391	12-Jun	.		ENST00000337363	Transcript						ENSG00000166510	g.chr18:52604167C>T	24350			MODERATE		2.24	medium	getma.org/?cm=msa&ty=f&p=CCD68_HUMAN&rb=1&re=139&var=G123E	NA	getma.org/?cm=var&var=hg19,18,52604167,C,T&fts=all	G123E	--	--	1																																		CCDC68_uc002lft.2_Missense_Mutation_p.G123E	0,1			probably_damaging(1)	p.G123E	NM_001143829	NP_001137301		deleterious(0)	0,1	CCD68_HUMAN	CCDC68	HGNC	Q9H2F9	CCD68_HUMAN		Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)			6	540	-			UPI00000435F1	123			Potential.		SNV	CCDC68,missense_variant,p.Gly123Glu,ENST00000591504,NM_025214.2;CCDC68,missense_variant,p.Gly123Glu,ENST00000432185,;CCDC68,missense_variant,p.Gly123Glu,ENST00000337363,NM_001143829.1;CCDC68,upstream_gene_variant,,ENST00000592040,;CCDC68,non_coding_transcript_exon_variant,,ENST00000592294,;CCDC68,downstream_gene_variant,,ENST00000587148,;CCDC68,downstream_gene_variant,,ENST00000589136,;	uc002lfs.2	c.368G>A	540/1457	2	2			c.368G>A						18	SNP	c.(367-369)GGA>GAA	20	20			skin(1)	1	Broad	coiled-coil domain containing 68			52604167		0.418	ENSG00000166510	2789	g.chr18:52604167C>T										95.979221	KEEP	16	25	-1	21	37	16	25	-1	96.932926	21	37	0.385542	1	0	0	0	0	1	0	0	0	--	--		0	T			CCDC68_uc002lft.2_Missense_Mutation_p.G123E	79	GBM-06-1804-TP	p.G123E	C	AGCTGCTGCTCCTGCTTCTCT	NM_001143829	NP_001137301	52604167	Q9H2F9	CCD68_HUMAN	0		Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)	6	540	-	T	T			Missense_Mutation	123			Potential.			
CCDC7	79741		GRCh37	10	32780862	32780862	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000362006.5:c.809C>T	p.Ser270Leu	p.S270L	ENST00000362006	NM_145023.4	270	tCa/tTa	0																																																																																																																																																																																																																																												
CCDC70	0	broad.mit.edu	GRCh37	13	52439731	52439731	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-14-3476-01	TCGA-14-3476-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000242819.4:c.217C>T	p.Arg73Ter	p.R73*	ENST00000242819	NM_031290.2	73	Cga/Tga	0	T:0.0002		1			T	R/*	uc001vfu.3	protein_coding	YES	CCDS9431.1			217/702										0	c.(217-219)CGA>TGA			hmmpanther:PTHR21533,hmmpanther:PTHR21533:SF16	coiled-coil domain containing 70 precursor			T:0.0001	ENSP00000242819		2-Feb	8.24E-05	9.96E-05				9.04E-05		0.000182	rs200088564,COSM3399415	2-Feb	.		ENST00000242819	Transcript				extracellular region|plasma membrane		ENSG00000123171	g.chr13:52439731C>T	25303			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,13,52439731,C,T&fts=all	R73*	--	--	1																																		uc010tgr.1_RNA	0,1	1			p.R73*	NM_031290	NP_112580			0,1	CCD70_HUMAN	CCDC70	HGNC	Q6NSX1	CCD70_HUMAN		GBM - Glioblastoma multiforme(99;2.4e-08)			2	513	+		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)	UPI00000361EB	73					SNV	CCDC70,stop_gained,p.Arg73Ter,ENST00000242819,NM_031290.2;	uc001vfu.3	c.217C>T	513/1148	5	2			c.217C>T						13	SNP	c.(217-219)CGA>TGA	21	21				0	Broad	coiled-coil domain containing 70 precursor			52439731		0.458	ENSG00000123171	2792	g.chr13:52439731C>T		extracellular region|plasma membrane								181.489802	KEEP	40	25	-1	64	88	40	25	-1	186.851799	64	88	0.321053	1	0	0	0	0	0	1	0	0	--	--		0	T			uc010tgr.1_RNA	151	GBM-14-3476-TP	p.R73*	C	GTGGACTTTCCGAGGCAAGAT	NM_031290	NP_112580	52439731	Q6NSX1	CCD70_HUMAN	0		GBM - Glioblastoma multiforme(99;2.4e-08)	2	513	+	T	T		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)	Nonsense_Mutation	73						
CCDC8	0	broad.mit.edu	GRCh37	19	46915568	46915568	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01	TCGA-14-3476-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307522.3:c.500C>T	p.Pro167Leu	p.P167L	ENST00000307522	NM_032040.4	167	cCg/cTg	0			1			A	P/L	uc002pep.2	protein_coding	YES	CCDS12685.1			500/1617									ovary(3)	3	c.(499-501)CCG>CTG			hmmpanther:PTHR23095,hmmpanther:PTHR23095:SF2	coiled-coil domain containing 8				ENSP00000303158		1-Jan									COSM3404408	1-Jan	.		ENST00000307522	Transcript	1			plasma membrane		ENSG00000169515	g.chr19:46915568G>A	25367			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=CCDC8_HUMAN&rb=1&re=537&var=P167L	NA	getma.org/?cm=var&var=hg19,19,46915568,G,A&fts=all	P167L	--	--	1																																			1	1		possibly_damaging(0.789)	p.P167L	NM_032040	NP_114429			1	CCDC8_HUMAN	CCDC8	HGNC	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)			1	1352	-			UPI00000730F2	167					SNV	CCDC8,missense_variant,p.Pro167Leu,ENST00000307522,NM_032040.4;	uc002pep.2	c.500C>T	1274/3213	2	2			c.500C>T						19	SNP	c.(499-501)CCG>CTG	46	46			ovary(3)	3	Broad	coiled-coil domain containing 8			46915568		0.647	ENSG00000169515	2802	g.chr19:46915568G>A		plasma membrane								67.158503	KEEP	7	24	-1	23	28	7	24	-1	68.464229	23	28	0.352941	1	0	0	0	0	1	0	0	0	--	--		0	A				151	GBM-14-3476-TP	p.P167L	G	GCGGGCAGGCGGCGCGCTGGG	NM_032040	NP_114429	46915568	Q9H0W5	CCDC8_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	1352	-	A	A			Missense_Mutation	167						
CCDC80	151887		GRCh37	3	112356885	112356885	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000206423.3:c.1868G>A	p.Arg623Gln	p.R623Q	ENST00000206423	NM_199512.1	623	cGa/cAa	0																																																																																																																																																																																																																																												
CCDC81	60494	broad.mit.edu	GRCh37	11	86123501	86123501	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0879-01	TCGA-06-0879-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000445632.2:c.1291A>G	p.Ser431Gly	p.S431G	ENST00000445632	NM_001156474.1	431	Agt/Ggt	0			1			G	S/G	uc001pbx.1	protein_coding	YES	CCDS53691.1			1291/1959									skin(1)	1	c.(1291-1293)AGT>GGT			hmmpanther:PTHR14362,hmmpanther:PTHR14362:SF2	coiled-coil domain containing 81 isoform 1				ENSP00000415528		15-Nov									COSM2152311,COSM2152310	15-Nov	.		ENST00000445632	Transcript						ENSG00000149201	g.chr11:86123501A>G	26281			MODERATE		1.115	low	getma.org/?cm=msa&ty=f&p=CCD81_HUMAN&rb=195&re=650&var=S431G	NA	getma.org/?cm=var&var=hg19,11,86123501,A,G&fts=all	S431G	--	--	1																																		CCDC81_uc001pbw.1_Missense_Mutation_p.S341G|CCDC81_uc010rtq.1_Missense_Mutation_p.S214G|CCDC81_uc001pby.1_Missense_Mutation_p.S166G	1,1	1		benign(0.001)	p.S431G	NM_001156474	NP_001149946		tolerated(0.22)	1,1	CCD81_HUMAN	CCDC81	HGNC	Q6ZN84	CCD81_HUMAN			B4DQN0_HUMAN		11	1719	+		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)	UPI0000E5BE97	431					SNV	CCDC81,missense_variant,p.Ser166Gly,ENST00000278487,;CCDC81,missense_variant,p.Ser431Gly,ENST00000445632,NM_001156474.1;CCDC81,missense_variant,p.Ser341Gly,ENST00000354755,NM_021827.4;CCDC81,missense_variant,p.Ser166Gly,ENST00000528728,;CCDC81,upstream_gene_variant,,ENST00000531587,;CCDC81,downstream_gene_variant,,ENST00000530845,;CCDC81,downstream_gene_variant,,ENST00000532466,;CCDC81,downstream_gene_variant,,ENST00000532215,;CCDC81,downstream_gene_variant,,ENST00000529603,;	uc001pbx.1	c.1291A>G	1563/2528	3	3			c.1291A>G						11	SNP	c.(1291-1293)AGT>GGT	49	49			skin(1)	1	Broad	coiled-coil domain containing 81 isoform 1			86123501		0.418	ENSG00000149201	2804	g.chr11:86123501A>G										216.762765	KEEP	31	41	-1	45	64	31	41	-1	218.408513	45	64	0.392638	1	0	0	0	0	1	0	0	0	--	--		0	G			CCDC81_uc001pbw.1_Missense_Mutation_p.S341G|CCDC81_uc010rtq.1_Missense_Mutation_p.S214G|CCDC81_uc001pby.1_Missense_Mutation_p.S166G	75	GBM-06-0879-TP	p.S431G	A	ATATTCCCGGAGTCTCCTGAA	NM_001156474	NP_001149946	86123501	Q6ZN84	CCD81_HUMAN	0			11	1719	+	G	G		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)	Missense_Mutation	431						
CCDC85A	114800	broad.mit.edu	GRCh37	2	56599613	56599613	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A			TCGA-06-5859-01	TCGA-06-5859-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000407595.2:c.1452G>A		p.X484_splice	ENST00000407595	NM_001080433.1	484	ccG/ccA	0			1			A	P	uc002rzn.2	protein_coding	YES	CCDS46290.1			1452/1662									breast(3)|ovary(2)	5	c.(1450-1452)CCG>CCA			hmmpanther:PTHR13546,hmmpanther:PTHR13546:SF13	coiled-coil domain containing 85A				ENSP00000384040		6-Apr									COSM3407917	6-Apr	.		ENST00000407595	Transcript						ENSG00000055813	g.chr2:56599613G>A	29400			LOW								--	--	1																																			1	1			p.P484P	NM_001080433	NP_001073902			1	CC85A_HUMAN	CCDC85A	HGNC	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)				4	1954	+			UPI00001C1DC1	484					SNV	CCDC85A,splice_region_variant,p.=,ENST00000407595,NM_001080433.1;RP11-482H16.1,intron_variant,,ENST00000607540,;	uc002rzn.2	c.1452G>A	1954/3982	1	1			c.1452G>A						2	SNP	c.(1450-1452)CCG>CCA	61	61			breast(3)|ovary(2)	5	Broad	coiled-coil domain containing 85A			56599613		0.517	ENSG00000055813	2808	g.chr2:56599613G>A										35.337604	KEEP	5	11	-1	4	15	5	11	-1	35.467427	4	15	0.423077	1	0	0	0	0	0	0	1	0	--	--		0	A				103	GBM-06-5859-TP	p.P484P	G	CTACTCTCCCGGTGAGTGAAG	NM_001080433	NP_001073902	56599613	Q96PX6	CC85A_HUMAN	0	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	1954	+	A	A			Silent	484						
CCDC85A	0	broad.mit.edu	GRCh37	2	56603032	56603032	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5213-01	TCGA-28-5213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000407595.2:c.1534C>T	p.Pro512Ser	p.P512S	ENST00000407595	NM_001080433.1	512	Cct/Tct	0			1			T	P/S	uc002rzn.2	protein_coding	YES	CCDS46290.1			1534/1662									breast(3)|ovary(2)	5	c.(1534-1536)CCT>TCT			hmmpanther:PTHR13546,hmmpanther:PTHR13546:SF13	coiled-coil domain containing 85A				ENSP00000384040		6-May									COSM3407918	6-May	.		ENST00000407595	Transcript						ENSG00000055813	g.chr2:56603032C>T	29400			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CC85A_HUMAN&rb=511&re=552&var=P512S	NA	getma.org/?cm=var&var=hg19,2,56603032,C,T&fts=all	P512S	--	--	1																																			1	1		benign(0.003)	p.P512S	NM_001080433	NP_001073902		tolerated_low_confidence(0.33)	1	CC85A_HUMAN	CCDC85A	HGNC	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)				5	2036	+			UPI00001C1DC1	512					SNV	CCDC85A,missense_variant,p.Pro512Ser,ENST00000407595,NM_001080433.1;RP11-482H16.1,intron_variant,,ENST00000607540,;	uc002rzn.2	c.1534C>T	2036/3982	1	1			c.1534C>T						2	SNP	c.(1534-1536)CCT>TCT	7	7			breast(3)|ovary(2)	5	Broad	coiled-coil domain containing 85A			56603032		0.473	ENSG00000055813	2808	g.chr2:56603032C>T										57.404754	KEEP	19	9	-1	65	48	19	9	-1	66.46654	65	48	0.211864	1	0	0	0	0	1	0	0	0	--	--		0	T				220	GBM-28-5213-TP	p.P512S	C	ACATGCCACACCTTCCCAGCA	NM_001080433	NP_001073902	56603032	Q96PX6	CC85A_HUMAN	0	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		5	2036	+	T	T			Missense_Mutation	512						
CCDC85A	0	broad.mit.edu	GRCh37	2	56420085	56420085	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-4934-01	TCGA-76-4934-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000407595.2:c.750G>C	p.Lys250Asn	p.K250N	ENST00000407595	NM_001080433.1	250	aaG/aaC	0			1			C	K/N	uc002rzn.2	protein_coding	YES	CCDS46290.1			750/1662									breast(3)|ovary(2)	5	c.(748-750)AAG>AAC			hmmpanther:PTHR13546,hmmpanther:PTHR13546:SF13	coiled-coil domain containing 85A				ENSP00000384040		6-Feb									COSM3748127	6-Feb	.		ENST00000407595	Transcript						ENSG00000055813	g.chr2:56420085G>C	29400			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=CC85A_HUMAN&rb=231&re=419&var=K250N	NA	getma.org/?cm=var&var=hg19,2,56420085,G,C&fts=all	K250N	--	--	1																																			1	1		probably_damaging(0.94)	p.K250N	NM_001080433	NP_001073902		deleterious_low_confidence(0.01)	1	CC85A_HUMAN	CCDC85A	HGNC	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)				2	1252	+			UPI00001C1DC1	250			His-rich.		SNV	CCDC85A,missense_variant,p.Lys250Asn,ENST00000407595,NM_001080433.1;RP11-482H16.1,intron_variant,,ENST00000607540,;	uc002rzn.2	c.750G>C	1252/3982	3	3			c.750G>C						2	SNP	c.(748-750)AAG>AAC	63	63			breast(3)|ovary(2)	5	Broad	coiled-coil domain containing 85A			56420085		0.662	ENSG00000055813	2808	g.chr2:56420085G>C										19.606422	KEEP	3	8	-1	24	35	3	8	-1	27.515643	24	35	0.149254	1	0	0	0	0	1	0	0	0	--	--		0	C				272	GBM-76-4934-TP	p.K250N	G	AGCACTCCAAGCACAGGAGCG	NM_001080433	NP_001073902	56420085	Q96PX6	CC85A_HUMAN	0	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	1252	+	C	C			Missense_Mutation	250			His-rich.			
CCDC87	0	broad.mit.edu	GRCh37	11	66358101	66358101	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01	TCGA-32-2491-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333861.3:c.2386G>A	p.Glu796Lys	p.E796K	ENST00000333861	NM_018219.2	796	Gag/Aag	0	T:0		1			T	E/K	uc001oiq.3	protein_coding	YES	CCDS8145.1			2386/2550									ovary(1)|skin(1)	2	c.(2386-2388)GAG>AAG			Pfam_domain:PF03999,hmmpanther:PTHR16078,hmmpanther:PTHR16078:SF1	coiled-coil domain containing 87			T:0.0001	ENSP00000328487		1-Jan	3.29E-05					5.99E-05			rs369370998,COSM3398064	1-Jan	.		ENST00000333861	Transcript						ENSG00000182791	g.chr11:66358101C>T	25579			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=CCD87_HUMAN&rb=706&re=848&var=E796K	NA	getma.org/?cm=var&var=hg19,11,66358101,C,T&fts=all	E796K	--	--	1																																		CCS_uc001oir.2_5'Flank	0,1	1		probably_damaging(0.947)	p.E796K	NM_018219	NP_060689		deleterious(0.01)	0,1	CCD87_HUMAN	CCDC87	HGNC	Q9NVE4	CCD87_HUMAN					1	2454	-			UPI000013EFC2	796					SNV	CCDC87,missense_variant,p.Glu796Lys,ENST00000333861,NM_018219.2;CCS,upstream_gene_variant,,ENST00000533244,NM_005125.1;CCS,upstream_gene_variant,,ENST00000310190,;CCS,upstream_gene_variant,,ENST00000530961,;CCS,upstream_gene_variant,,ENST00000530384,;CCS,upstream_gene_variant,,ENST00000526066,;CCS,upstream_gene_variant,,ENST00000531990,;CCS,upstream_gene_variant,,ENST00000526058,;	uc001oiq.3	c.2386G>A	2454/2915	1	1			c.2386G>A						11	SNP	c.(2386-2388)GAG>AAG	9	9			ovary(1)|skin(1)	2	Broad	coiled-coil domain containing 87			66358101		0.532	ENSG00000182791	2810	g.chr11:66358101C>T										332.846144	KEEP	47	79	-1	108	160	47	79	-1	340.283327	108	160	0.342183	1	0	0	0	0	1	0	0	0	--	--		0	T			CCS_uc001oir.2_5'Flank	235	GBM-32-2491-TP	p.E796K	C	ATCACTGGCTCGCCAAAGATT	NM_018219	NP_060689	66358101	Q9NVE4	CCD87_HUMAN	0			1	2454	-	T	T			Missense_Mutation	796						
CCDC88A	0	broad.mit.edu	GRCh37	2	55563820	55563821	+	frameshift_variant	Frame_Shift_Del	DEL	TC	TC	-			TCGA-19-5959-01	TCGA-19-5959-01	TC	TC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000436346.1:c.1652_1653delGA	p.Arg551ThrfsTer3	p.R551Tfs*3	ENST00000436346	NM_001135597.1	551	aGA/a	0			1			-	R/X	uc002ryv.2	protein_coding					1652-1653/5616									ovary(2)|skin(2)	4	c.(1651-1653)AGAfs			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF05622,hmmpanther:PTHR18947,hmmpanther:PTHR18947:SF30	coiled-coil domain containing 88A isoform 1				ENSP00000410608		14/33										14/33	.		ENST00000436346	Transcript			activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	ENSG00000115355	g.chr2:55563820_55563821delTC	25523			HIGH								--	--	1																																		CCDC88A_uc010yoz.1_Frame_Shift_Del_p.R551fs|CCDC88A_uc010ypa.1_Frame_Shift_Del_p.R551fs|CCDC88A_uc010ypb.1_Frame_Shift_Del_p.R453fs|CCDC88A_uc002ryu.2_5'Flank|CCDC88A_uc002ryw.2_5'Flank					p.R551fs	NM_001135597	NP_001129069				GRDN_HUMAN	CCDC88A	HGNC	Q3V6T2	GRDN_HUMAN			C9J225_HUMAN,B4DSN0_HUMAN		14	2494_2495	-			UPI000150AEEC	551			Potential.		deletion	CCDC88A,frameshift_variant,p.Arg551ThrfsTer3,ENST00000436346,NM_001135597.1,NM_001254943.1;CCDC88A,frameshift_variant,p.Arg551ThrfsTer3,ENST00000263630,NM_018084.4;CCDC88A,frameshift_variant,p.Arg551ThrfsTer3,ENST00000336838,;CCDC88A,frameshift_variant,p.Arg551ThrfsTer3,ENST00000413716,;CCDC88A,upstream_gene_variant,,ENST00000426576,;AC012358.8,intron_variant,,ENST00000599475,;AC012358.8,intron_variant,,ENST00000600219,;AC012358.8,intron_variant,,ENST00000594078,;AC012358.8,intron_variant,,ENST00000599352,;AC012358.8,intron_variant,,ENST00000608103,;CCDC88A,upstream_gene_variant,,ENST00000468534,;	uc002ryv.2	c.1652_1653delGA	2494-2495/9811	5	5			c.1652_1653delGA						2	DEL	c.(1651-1653)AGAfs	47	47			ovary(2)|skin(2)	4	Broad	coiled-coil domain containing 88A isoform 1			55563821		0.262	ENSG00000115355	2811	g.chr2:55563820_55563821delTC	activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding																				0.28	1	1	0	1	0	0	0	0	0	--	--		0	-			CCDC88A_uc010yoz.1_Frame_Shift_Del_p.R551fs|CCDC88A_uc010ypa.1_Frame_Shift_Del_p.R551fs|CCDC88A_uc010ypb.1_Frame_Shift_Del_p.R453fs|CCDC88A_uc002ryu.2_5'Flank|CCDC88A_uc002ryw.2_5'Flank	177	GBM-19-5959-TP	p.R551fs	TC	TATGAACCTGTCTCTCTGAATT	NM_001135597	NP_001129069	55563820	Q3V6T2	GRDN_HUMAN	0			14	2494_2495	-	-	-			Frame_Shift_Del	551			Potential.			
CCDC88C	440193		GRCh37	14	91755541	91755541	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000389857.6:c.4349C>T	p.Pro1450Leu	p.P1450L	ENST00000389857	NM_001080414.3	1450	cCg/cTg	0																																																																																																																																																																																																																																												
CCDC88C	440193		GRCh37	14	91770270	91770270	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000389857.6:c.3410C>T	p.Thr1137Met	p.T1137M	ENST00000389857	NM_001080414.3	1137	aCg/aTg	0																																																																																																																																																																																																																																												
CCDC91	55297	broad.mit.edu	GRCh37	12	28459762	28459762	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01	TCGA-06-0939-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000545336.1:c.355G>A	p.Val119Met	p.V119M	ENST00000545336		119	Gtg/Atg	0			1			A	V/M	uc001riq.2	protein_coding		CCDS8716.1			355/1326									central_nervous_system(1)	1	c.(355-357)GTG>ATG				GGA binding partner				ENSP00000370658		12-Apr									COSM2152441,COSM3398651	12-Apr	.		ENST00000381259	Transcript			protein transport	Golgi apparatus|membrane		ENSG00000123106	g.chr12:28459762G>A	24855			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CCD91_HUMAN&rb=1&re=136&var=V119M	NA	getma.org/?cm=var&var=hg19,12,28459762,G,A&fts=all	V119M	--	--	1																																		CCDC91_uc001rio.2_Missense_Mutation_p.V89M|CCDC91_uc009zjk.2_RNA|CCDC91_uc001rip.1_Missense_Mutation_p.V119M|CCDC91_uc001rir.2_Translation_Start_Site|CCDC91_uc009zjl.2_Translation_Start_Site	1,1			benign(0.017)	p.V119M	NM_018318	NP_060788		tolerated(0.24)	1,1	CCD91_HUMAN	CCDC91	HGNC	Q7Z6B0	CCD91_HUMAN			F5H4N8_HUMAN,F5GZH9_HUMAN,F5GXK6_HUMAN		4	371	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)		UPI00001AEE23	119					SNV	CCDC91,missense_variant,p.Val119Met,ENST00000545336,;CCDC91,missense_variant,p.Val119Met,ENST00000539107,;CCDC91,missense_variant,p.Val119Met,ENST00000381259,NM_018318.3;CCDC91,missense_variant,p.Val89Met,ENST00000306172,;CCDC91,missense_variant,p.Val119Met,ENST00000381256,;CCDC91,intron_variant,,ENST00000536154,;CCDC91,intron_variant,,ENST00000540794,;CCDC91,downstream_gene_variant,,ENST00000543534,;CCDC91,downstream_gene_variant,,ENST00000538586,;CCDC91,non_coding_transcript_exon_variant,,ENST00000540401,;CCDC91,non_coding_transcript_exon_variant,,ENST00000539904,;CCDC91,non_coding_transcript_exon_variant,,ENST00000544649,;CCDC91,missense_variant,p.Val119Met,ENST00000543809,;CCDC91,missense_variant,p.Val119Met,ENST00000545737,;CCDC91,missense_variant,p.Val119Met,ENST00000536442,;CCDC91,3_prime_UTR_variant,,ENST00000535520,;	uc001riq.2	c.355G>A	371/2334	1	1			c.355G>A						12	SNP	c.(355-357)GTG>ATG	61	61			central_nervous_system(1)	1	Broad	GGA binding partner			28459762		0.358	ENSG00000123106	2818	g.chr12:28459762G>A	protein transport	Golgi apparatus|membrane								85.259805	KEEP	18	21	-1	44	63	18	21	-1	91.025864	44	63	0.275591	1	0	0	0	0	1	0	0	0	--	--		0	A			CCDC91_uc001rio.2_Missense_Mutation_p.V89M|CCDC91_uc009zjk.2_RNA|CCDC91_uc001rip.1_Missense_Mutation_p.V119M|CCDC91_uc001rir.2_Translation_Start_Site|CCDC91_uc009zjl.2_Translation_Start_Site	78	GBM-06-0939-TP	p.V119M	G	AATTGCCCTTGTGGATGATTC	NM_018318	NP_060788	28459762	Q7Z6B0	CCD91_HUMAN	0			4	371	+	A	A	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)		Missense_Mutation	119						
CCDC94	0	broad.mit.edu	GRCh37	19	4268683	4268683	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0237-01	TCGA-06-0237-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262962.7:c.962G>A	p.Gly321Asp	p.G321D	ENST00000262962	NM_018074.4	321	gGc/gAc	0			1			A	G/D	uc002lzv.3	protein_coding	YES	CCDS12124.1			962/972										0	c.(961-963)GGC>GAC			hmmpanther:PTHR12111,hmmpanther:PTHR12111:SF1	coiled-coil domain containing 94				ENSP00000262962		8-Aug									COSM3404284	8-Aug	.		ENST00000262962	Transcript						ENSG00000105248	g.chr19:4268683G>A	25518			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=CCD94_HUMAN&rb=290&re=323&var=G321D	NA	getma.org/?cm=var&var=hg19,19,4268683,G,A&fts=all	G321D	--	--	1																																			1	1		benign(0.01)	p.G321D	NM_018074	NP_060544		tolerated(0.43)	1	CCD94_HUMAN	CCDC94	HGNC	Q9BW85	CCD94_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)	Q7LE05_HUMAN,M0R2S3_HUMAN		8	995	+			UPI000006CF6B	321					SNV	CCDC94,missense_variant,p.Gly321Asp,ENST00000262962,NM_018074.4;	uc002lzv.3	c.962G>A	1030/1434	2	2			c.962G>A						19	SNP	c.(961-963)GGC>GAC	36	36				0	Broad	coiled-coil domain containing 94			4268683		0.642	ENSG00000105248	2821	g.chr19:4268683G>A										-1.007942	KEEP	1	2	-1	23	25	1	2	-1	6.672734	23	25	0.073171	1	0	0	0	0	1	0	0	0	--	--		0	A				54	GBM-06-0237-TP	p.G321D	G	GACAGCAACGGCAGCAACTGA	NM_018074	NP_060544	4268683	Q9BW85	CCD94_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)	8	995	+	A	A			Missense_Mutation	321						
CFAP184	0	broad.mit.edu	GRCh37	4	7043696	7043696	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-28-2513-01	TCGA-28-2513-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310085.4:c.970G>T	p.Glu324Ter	p.E324*	ENST00000310085	NM_153376.2	324	Gag/Tag	0			1			A	E/*	uc003gjv.2	protein_coding	YES	CCDS3395.1			970/1668										0	c.(970-972)GAG>TAG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15654,hmmpanther:PTHR15654:SF1	coiled-coil domain containing 96				ENSP00000309285		1-Jan									COSM3409436	1-Jan	.		ENST00000310085	Transcript						ENSG00000173013	g.chr4:7043696C>A	26900			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,4,7043696,C,A&fts=all	E324*	--	--	1																																		TADA2B_uc003gjw.3_5'Flank|TADA2B_uc010idi.2_5'Flank	1	1			p.E324*	NM_153376	NP_699207			1	CCD96_HUMAN	CCDC96	HGNC	Q2M329	CCD96_HUMAN					1	1033	-			UPI00000705C9	324			Potential.		SNV	CCDC96,stop_gained,p.Glu324Ter,ENST00000310085,NM_153376.2;TADA2B,5_prime_UTR_variant,,ENST00000506692,;TADA2B,upstream_gene_variant,,ENST00000310074,NM_152293.2;TADA2B,upstream_gene_variant,,ENST00000512388,;RP11-367J11.2,intron_variant,,ENST00000500031,;	uc003gjv.2	c.970G>T	1033/2150	5	2			c.970G>T						4	SNP	c.(970-972)GAG>TAG	32	32				0	Broad	coiled-coil domain containing 96			7043696		0.642	ENSG00000173013	2822	g.chr4:7043696C>A										20.550143	KEEP	13	22	0.628571429	133	144	13	22	0.628571429	60.221064	133	144	0.11236	1	0	0	0	0	0	1	0	0	--	--		0	A			TADA2B_uc003gjw.3_5'Flank|TADA2B_uc010idi.2_5'Flank	213	GBM-28-2513-TP	p.E324*	C	CACTCCTTCTCCACCCTGGTG	NM_153376	NP_699207	7043696	Q2M329	CCD96_HUMAN	0			1	1033	-	A	A			Nonsense_Mutation	324			Potential.			
CCER1	196477	broad.mit.edu	GRCh37	12	91348191	91348191	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0644-01	TCGA-06-0644-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358859.2:c.329G>A	p.Arg110Gln	p.R110Q	ENST00000358859	NM_152638.2	110	cGg/cAg	0			1			T	R/Q	uc001tbj.2	protein_coding	YES	CCDS9036.1			329/1221									central_nervous_system(1)|pancreas(1)	2	c.(328-330)CGG>CAG			Pfam_domain:PF15482	hypothetical protein LOC196477				ENSP00000351727		1-Jan									COSM3399171	1-Jan	.		ENST00000358859	Transcript						ENSG00000197651	g.chr12:91348191C>T	28373			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=CL012_HUMAN&rb=1&re=279&var=R110Q	NA	getma.org/?cm=var&var=hg19,12,91348191,C,T&fts=all	R110Q	--	--	1																																			1	1		benign(0.146)	p.R110Q	NM_152638	NP_689851		tolerated(0.16)	1	CCER1_HUMAN	CCER1	HGNC	Q8TC90	CL012_HUMAN					1	763	-			UPI000006EE70	110					SNV	CCER1,missense_variant,p.Arg110Gln,ENST00000358859,NM_152638.2;CCER1,intron_variant,,ENST00000548187,;CCER1,upstream_gene_variant,,ENST00000549707,;	uc001tbj.2	c.329G>A	763/2961	2	2			c.329G>A						12	SNP	c.(328-330)CGG>CAG	34	34			central_nervous_system(1)|pancreas(1)	2	Broad	hypothetical protein LOC196477			91348191		0.647	ENSG00000197651	1639	g.chr12:91348191C>T										21.655999	KEEP	3	6	-1	24	17	3	6	-1	24.061807	24	17	0.236842	1	0	0	0	0	1	0	0	0	--	--		0	T				58	GBM-06-0644-TP	p.R110Q	C	GCCATACACCCGAAACACTTG	NM_152638	NP_689851	91348191	Q8TC90	CL012_HUMAN	0			1	763	-	T	T			Missense_Mutation	110						
CCHCR1	54535	broad.mit.edu	GRCh37	6	31124628	31124628	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-2557-01	TCGA-06-2557-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396268.3:c.377T>C	p.Leu126Pro	p.L126P	ENST00000396268	NM_001105563.1	126	cTg/cCg	0			1			G	L/P	uc003nsr.3	protein_coding		CCDS4695.1			110/2349									skin(1)	1	c.(109-111)CTG>CCG			hmmpanther:PTHR23161:SF4,hmmpanther:PTHR23161,Pfam_domain:PF07111	coiled-coil alpha-helical rod protein 1 isoform				ENSP00000365442		18-Mar									COSM3748327,COSM3748326	18-Mar	.		ENST00000376266	Transcript			cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	ENSG00000204536	g.chr6:31124628A>G	13930			MODERATE		2.14	medium	getma.org/?cm=msa&ty=f&p=CCHCR_HUMAN&rb=27&re=782&var=L37P	NA	getma.org/?cm=var&var=hg19,6,31124628,A,G&fts=all	L37P	--	--	1																																		CCHCR1_uc011dne.1_Missense_Mutation_p.L37P|CCHCR1_uc003nsq.3_Intron|CCHCR1_uc003nsp.3_Missense_Mutation_p.L126P|CCHCR1_uc010jsk.1_Missense_Mutation_p.L37P|TCF19_uc003nss.2_5'Flank|TCF19_uc003nst.2_5'Flank	1,1			benign(0.013)	p.L37P	NM_019052	NP_061925		tolerated(0.12)	1,1	CCHCR_HUMAN	CCHCR1	HGNC	Q8TD31	CCHCR_HUMAN			E9PGB6_HUMAN,E7EQE8_HUMAN,E7EQC5_HUMAN,D6RDI7_HUMAN,D6RD84_HUMAN,D6RBG1_HUMAN,D6RB88_HUMAN,B4DIA2_HUMAN,B0V092_HUMAN,A9XAL3_HUMAN,A9XAG5_HUMAN,A9XAF5_HUMAN,A9XAC7_HUMAN,A2ABH4_HUMAN,A2ABH3_HUMAN		3	233	-			UPI000023B7F9	37					SNV	CCHCR1,missense_variant,p.Leu126Pro,ENST00000396268,NM_001105563.1,NM_001105564.1;CCHCR1,missense_variant,p.Leu37Pro,ENST00000376266,NM_019052.3;CCHCR1,missense_variant,p.Leu37Pro,ENST00000396263,;CCHCR1,missense_variant,p.Leu135Pro,ENST00000426967,;CCHCR1,missense_variant,p.Leu37Pro,ENST00000448162,;CCHCR1,missense_variant,p.Leu37Pro,ENST00000455279,;CCHCR1,missense_variant,p.Leu37Pro,ENST00000502557,;CCHCR1,missense_variant,p.Leu37Pro,ENST00000507829,;CCHCR1,missense_variant,p.Leu37Pro,ENST00000507751,;CCHCR1,missense_variant,p.Leu37Pro,ENST00000503934,;CCHCR1,missense_variant,p.Leu37Pro,ENST00000507226,;CCHCR1,missense_variant,p.Leu11Pro,ENST00000513222,;CCHCR1,missense_variant,p.Leu37Pro,ENST00000507892,;CCHCR1,missense_variant,p.Leu63Pro,ENST00000428174,;CCHCR1,intron_variant,,ENST00000451521,;CCHCR1,intron_variant,,ENST00000448141,;CCHCR1,intron_variant,,ENST00000503420,;CCHCR1,intron_variant,,ENST00000508683,;TCF19,upstream_gene_variant,,ENST00000376257,NM_007109.2;TCF19,upstream_gene_variant,,ENST00000376255,NM_001077511.1;CCHCR1,downstream_gene_variant,,ENST00000506831,;TCF19,upstream_gene_variant,,ENST00000542218,;CCHCR1,intron_variant,,ENST00000480060,;TCF19,upstream_gene_variant,,ENST00000496421,;CCHCR1,missense_variant,p.Leu37Pro,ENST00000508852,;CCHCR1,missense_variant,p.Leu37Pro,ENST00000507459,;CCHCR1,3_prime_UTR_variant,,ENST00000488920,;CCHCR1,non_coding_transcript_exon_variant,,ENST00000509552,;CCHCR1,non_coding_transcript_exon_variant,,ENST00000475684,;CCHCR1,non_coding_transcript_exon_variant,,ENST00000505392,;CCHCR1,intron_variant,,ENST00000512418,;CCHCR1,upstream_gene_variant,,ENST00000464012,;	uc003nsr.3	c.110T>C	233/2625	3	3			c.110T>C						6	SNP	c.(109-111)CTG>CCG	11	11			skin(1)	1	Broad	coiled-coil alpha-helical rod protein 1 isoform			31124628		0.577	ENSG00000204536	2825	g.chr6:31124628A>G	cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding							-18.963349	KEEP	2	3	-1	75	50	2	3	-1	6.718054	75	50	0.028571	1	0	0	0	0	1	0	0	0	--	--		0	G			CCHCR1_uc011dne.1_Missense_Mutation_p.L37P|CCHCR1_uc003nsq.3_Intron|CCHCR1_uc003nsp.3_Missense_Mutation_p.L126P|CCHCR1_uc010jsk.1_Missense_Mutation_p.L37P|TCF19_uc003nss.2_5'Flank|TCF19_uc003nst.2_5'Flank	81	GBM-06-2557-TP	p.L37P	A	GGGTTGGACCAGGGGAATGTC	NM_019052	NP_061925	31124628	Q8TD31	CCHCR_HUMAN	0			3	233	-	G	G			Missense_Mutation	37						
CCIN	0	broad.mit.edu	GRCh37	9	36170861	36170861	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335119.2:c.1362C>T	p.Asp454=	p.D454=	ENST00000335119	NM_005893.2	454	gaC/gaT	0		T:0	1	T:0		T	D	uc003zzb.3	protein_coding	YES	CCDS6599.1			1362/1767									ovary(1)|skin(1)	2	c.(1360-1362)GAC>GAT			Superfamily_domains:0052715,Gene3D:1k3iA02,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF163	calicin		T:0		ENSP00000334996	T:0	1-Jan	9.88E-05			0.000925		1.50E-05		0.000182	rs562247970,COSM3413650	1-Jan	common_variant		ENST00000335119	Transcript		T:0.0004	cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	ENSG00000185972	g.chr9:36170861C>T	1568			LOW								--	--	1																																			0,1	1			p.D454D	NM_005893	NP_005884	T:0.002		0,1	CALI_HUMAN	CCIN	HGNC	Q13939	CALI_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		Q8WX35_HUMAN		1	1473	+			UPI000006EB8E	454			Kelch 4.		SNV	CCIN,synonymous_variant,p.=,ENST00000335119,NM_005893.2;	uc003zzb.3	c.1362C>T	1473/1941	2	2			c.1362C>T						9	SNP	c.(1360-1362)GAC>GAT	33	33			ovary(1)|skin(1)	2	Broad	calicin			36170861		0.557	ENSG00000185972	2826	g.chr9:36170861C>T	cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton							243.583125	KEEP	40	58	-1	81	45	40	58	-1	244.146503	81	45	0.443902	1	0	0	0	0	0	0	1	0	--	--		0	T				131	GBM-12-5301-TP	p.D454D	C	GCACTGGGGACGTGGTCCAGT	NM_005893	NP_005884	36170861	Q13939	CALI_HUMAN	0	STAD - Stomach adenocarcinoma(86;0.228)		1	1473	+	T	T			Silent	454			Kelch 4.			
CCK	885	broad.mit.edu	GRCh37	3	42305011	42305011	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01	TCGA-06-0169-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396169.2:c.112G>A	p.Glu38Lys	p.E38K	ENST00000396169	NM_000729.4	38	Gag/Aag	0			1			T	E/K	uc003clc.1	protein_coding		CCDS2696.1			112/348								p.E38K(1)	central_nervous_system(1)	1	c.(112-114)GAG>AAG			Pfam_domain:PF00918,hmmpanther:PTHR10786,hmmpanther:PTHR10786:SF0	cholecystokinin preproprotein				ENSP00000335657		3-Feb									COSM42880	3-Feb	.		ENST00000334681	Transcript			axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity	ENSG00000187094	g.chr3:42305011C>T	1569			MODERATE		2.36	medium	getma.org/?cm=msa&ty=f&p=CCKN_HUMAN&rb=2&re=115&var=E38K	NA	getma.org/?cm=var&var=hg19,3,42305011,C,T&fts=all	E38K	--	--	1																																		CCK_uc003cld.1_Missense_Mutation_p.E38K|CCK_uc011azk.1_Missense_Mutation_p.E38K	1			possibly_damaging(0.745)	p.E38K	NM_000729	NP_000720		tolerated(0.46)	1	CCKN_HUMAN	CCK	HGNC	P06307	CCKN_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.219)	Q6FG82_HUMAN		2	321	-		Ovarian(412;0.0728)	UPI00001272C3	38					SNV	CCK,missense_variant,p.Glu38Lys,ENST00000396169,NM_000729.4;CCK,missense_variant,p.Glu38Lys,ENST00000334681,;CCK,missense_variant,p.Glu38Lys,ENST00000434608,NM_001174138.1;CCK,non_coding_transcript_exon_variant,,ENST00000484359,;	uc003clc.1	c.112G>A	321/830	2	2			c.112G>A						3	SNP	c.(112-114)GAG>AAG	28	28		p.E38K(1)	central_nervous_system(1)	1	Broad	cholecystokinin preproprotein			42305011		0.711	ENSG00000187094	2827	g.chr3:42305011C>T	axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity							44.447425	KEEP	11	10	-1	32	24	11	10	-1	46.239672	32	24	0.309091	1	0	0	0	0	1	0	0	0	--	--		0	T			CCK_uc003cld.1_Missense_Mutation_p.E38K|CCK_uc011azk.1_Missense_Mutation_p.E38K	34	GBM-06-0169-TP	p.E38K	C	CGGGGCGCCTCCTCTGCCCGC	NM_000729	NP_000720	42305011	P06307	CCKN_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.219)	2	321	-	T	T		Ovarian(412;0.0728)	Missense_Mutation	38						
CCKAR	0	broad.mit.edu	GRCh37	4	26491828	26491828	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-1991-01	TCGA-32-1991-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295589.3:c.62G>T	p.Gly21Val	p.G21V	ENST00000295589	NM_000730.2	21	gGg/gTg	0			1			A	G/V	uc003gse.1	protein_coding	YES	CCDS3438.1			62/1287									lung(3)|pancreas(1)	4	c.(61-63)GGG>GTG			hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF60,Gene3D:1d6gA00,Pfam_domain:PF09193,Superfamily_domains:SSF81321,Prints_domain:PR00524	cholecystokinin A receptor	Ceruletide(DB00403)			ENSP00000295589		5-Jan									COSM3409242	5-Jan	.		ENST00000295589	Transcript			activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	ENSG00000163394	g.chr4:26491828C>A	1570			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=CCKAR_HUMAN&rb=1&re=47&var=G21V	getma.org/pdb.php?prot=CCKAR_HUMAN&from=1&to=47&var=G21V	getma.org/?cm=var&var=hg19,4,26491828,C,A&fts=all	G21V	--	--	1																																			1	1		benign(0.016)	p.G21V	NM_000730	NP_000721		tolerated_low_confidence(0.06)	1	CCKAR_HUMAN	CCKAR	HGNC	P32238	CCKAR_HUMAN					1	215	-		Breast(46;0.0503)	UPI00000503F3	21			Extracellular (Potential).		SNV	CCKAR,missense_variant,p.Gly21Val,ENST00000295589,NM_000730.2;	uc003gse.1	c.62G>T	257/1720	1	1			c.62G>T						4	SNP	c.(61-63)GGG>GTG	60	60			lung(3)|pancreas(1)	4	Broad	cholecystokinin A receptor		Ceruletide(DB00403)	26491828		0.493	ENSG00000163394	2828	g.chr4:26491828C>A	activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity							-27.124462	KEEP	2	2	0.5	83	81	2	2	0.5	7.999357	83	81	0.027972	1	0	0	0	0	1	0	0	0	--	--		0	A				234	GBM-32-1991-TP	p.G21V	C	ATTTTCGAGCCCGAGTTCACA	NM_000730	NP_000721	26491828	P32238	CCKAR_HUMAN	0			1	215	-	A	A		Breast(46;0.0503)	Missense_Mutation	21			Extracellular (Potential).			
CCKBR	0	broad.mit.edu	GRCh37	11	6291993	6291993	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-2631-01	TCGA-19-2631-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334619.2:c.771C>T	p.Ser257=	p.S257=	ENST00000334619	NM_176875.3	257	agC/agT	0			1			T	S	uc001mcp.2	protein_coding	YES	CCDS7761.1			771/1344									lung(5)|ovary(2)|breast(1)	8	c.(769-771)AGC>AGT			Pfam_domain:PF00001,Prints_domain:PR00527,PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF45	cholecystokinin B receptor	Pentagastrin(DB00183)			ENSP00000335544		5-Apr									COSM2156428,COSM2156429	5-Apr	.		ENST00000334619	Transcript			activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	ENSG00000110148	g.chr11:6291993C>T	1571			LOW								--	--	1																																		CCKBR_uc001mcq.2_Silent_p.S185S|CCKBR_uc001mcr.2_Silent_p.S257S|CCKBR_uc001mcs.2_Silent_p.S257S|CCKBR_uc001mct.1_5'Flank	1,1	1			p.S257S	NM_176875	NP_795344			1,1	GASR_HUMAN	CCKBR	HGNC	P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)			4	964	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	UPI0000000C18	257			Cytoplasmic (Potential).		SNV	CCKBR,synonymous_variant,p.=,ENST00000525462,;CCKBR,synonymous_variant,p.=,ENST00000334619,NM_176875.3;CCKBR,synonymous_variant,p.=,ENST00000532715,;CCKBR,downstream_gene_variant,,ENST00000525014,;CCKBR,downstream_gene_variant,,ENST00000531712,;CCKBR,upstream_gene_variant,,ENST00000532396,;	uc001mcp.2	c.771C>T	964/2121	2	2			c.771C>T						11	SNP	c.(769-771)AGC>AGT	36	36			lung(5)|ovary(2)|breast(1)	8	Broad	cholecystokinin B receptor		Pentagastrin(DB00183)	6291993		0.622	ENSG00000110148	2829	g.chr11:6291993C>T	activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding							129.900154	KEEP	24	31	-1	32	34	24	31	-1	130.371983	32	34	0.427184	1	0	0	0	0	0	0	1	0	--	--		0	T			CCKBR_uc001mcq.2_Silent_p.S185S|CCKBR_uc001mcr.2_Silent_p.S257S|CCKBR_uc001mcs.2_Silent_p.S257S|CCKBR_uc001mct.1_5'Flank	167	GBM-19-2631-TP	p.S257S	C	ACAGTGACAGCGACAGCCAAA	NM_176875	NP_795344	6291993	P32239	GASR_HUMAN	0		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	4	964	+	T	T		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	Silent	257			Cytoplasmic (Potential).			
CCL13	0	broad.mit.edu	GRCh37	17	32685057	32685057	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-19-2623-01	TCGA-19-2623-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000225844.2:c.204A>C	p.Lys68Asn	p.K68N	ENST00000225844	NM_005408.2	68	aaA/aaC	0			1			C	K/N	uc002hic.2	protein_coding	YES	CCDS11281.1			204/297										0	c.(202-204)AAA>AAC			hmmpanther:PTHR12015,hmmpanther:PTHR12015:SF86,PROSITE_patterns:PS00472,Pfam_domain:PF00048,Gene3D:2.40.50.40,SMART_domains:SM00199,Superfamily_domains:SSF54117	small inducible cytokine A13 precursor				ENSP00000225844		3-Mar									COSM3402772	3-Mar	.		ENST00000225844	Transcript			cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity|signal transducer activity	ENSG00000181374	g.chr17:32685057A>C	10611			MODERATE								--	--	1																																			1	1		probably_damaging(0.935)	p.K68N	NM_005408	NP_005399		deleterious(0.01)	1	CCL13_HUMAN	CCL13	HGNC	Q99616	CCL13_HUMAN					3	279	+		Ovarian(249;0.0443)|Breast(31;0.151)	UPI00000339BE	68					SNV	CCL13,missense_variant,p.Lys68Asn,ENST00000225844,NM_005408.2;CCL13,missense_variant,p.Lys33Asn,ENST00000577681,;CCL1,downstream_gene_variant,,ENST00000225842,NM_002981.2;	uc002hic.2	c.204A>C	279/851	4	4			c.204A>C						17	SNP	c.(202-204)AAA>AAC	42	42				0	Broad	small inducible cytokine A13 precursor			32685057		0.512	ENSG00000181374	2832	g.chr17:32685057A>C	cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity|signal transducer activity							36.839959	KEEP	8	8	-1	26	26	8	8	-1	41.47976	26	26	0.213115	1	0	0	0	0	1	0	0	0	--	--		0	C				163	GBM-19-2623-TP	p.K68N	A	TCAGAACCAAACTGGGCAAGG	NM_005408	NP_005399	32685057	Q99616	CCL13_HUMAN	0			3	279	+	C	C		Ovarian(249;0.0443)|Breast(31;0.151)	Missense_Mutation	68						
CCL14	0	broad.mit.edu	GRCh37	17	34311432	34311432	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000536149.1:c.184C>T	p.Arg62Cys	p.R62C	ENST00000536149		62	Cgt/Tgt	0			1			A	R/C	uc010wcr.1	protein_coding	YES	CCDS45652.1			184/330										0	c.(136-138)CGT>TGT			Superfamily_domains:SSF54117,SMART_domains:SM00199,Pfam_domain:PF00048,Gene3D:2.40.50.40,PROSITE_patterns:PS00472,hmmpanther:PTHR12015:SF75,hmmpanther:PTHR12015	chemokine (C-C motif) ligand 14 isoform 1				ENSP00000441771		8-Jul	1.65E-05			0.000116			0.0011		rs372808751,COSM3402789,COSM3402788	8-Jul	.		ENST00000536149	Transcript			cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity	ENSG00000213494	g.chr17:34311432G>A	10612			MODERATE								--	--	1																																		CCL16_uc002hkl.2_5'Flank|CCL16_uc002hkm.2_5'Flank|CCL14_uc010wcq.1_Missense_Mutation_p.R62C|CCL14_uc002hkn.2_RNA|CCL14-CCL15_uc010wcs.1_RNA|CCL14-CCL15_uc010wct.1_RNA|uc002hkq.2_5'Flank	0,1,1	1		probably_damaging(0.939)	p.R46C	NM_032963	NP_116739		deleterious(0.01)	0,1,1	CCL14_HUMAN	CCL14	HGNC	Q16627	CCL14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)			2	215	-		Ovarian(249;0.17)	UPI000002B47E	46					SNV	CCL14,missense_variant,p.Arg68Cys,ENST00000480944,;CCL14,missense_variant,p.Arg62Cys,ENST00000536149,;CCL14,missense_variant,p.Arg46Cys,ENST00000394509,;CCL14,missense_variant,p.Arg62Cys,ENST00000435911,NM_032962.4;CCL14,missense_variant,p.Arg46Cys,ENST00000586216,NM_032963.3;CTB-186H2.3,upstream_gene_variant,,ENST00000591669,;CCL16,upstream_gene_variant,,ENST00000293275,NM_004590.2;CTB-186H2.3,intron_variant,,ENST00000593057,;CCL15-CCL14,3_prime_UTR_variant,,ENST00000481427,;CCL15-CCL14,3_prime_UTR_variant,,ENST00000495214,;CCL16,upstream_gene_variant,,ENST00000586567,;	uc010wcr.1	c.136C>T	1196/1487	2	2			c.136C>T						17	SNP	c.(136-138)CGT>TGT	47	47				0	Broad	chemokine (C-C motif) ligand 14 isoform 1			34311432		0.552	ENSG00000213494	2833	g.chr17:34311432G>A	cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity							58.490186	KEEP	13	13	-1	38	30	13	13	-1	62.361348	38	30	0.27381	1	0	0	0	0	1	0	0	0	--	--		0	A			CCL16_uc002hkl.2_5'Flank|CCL16_uc002hkm.2_5'Flank|CCL14_uc010wcq.1_Missense_Mutation_p.R62C|CCL14_uc002hkn.2_RNA|CCL14-CCL15_uc010wcs.1_RNA|CCL14-CCL15_uc010wct.1_RNA|uc002hkq.2_5'Flank	240	GBM-32-2632-TP	p.R46C	G	ATCCGCTGACGCGGGATCTTG	NM_032963	NP_116739	34311432	Q16627	CCL14_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	215	-	A	A		Ovarian(249;0.17)	Missense_Mutation	46						
CCL2	0	broad.mit.edu	GRCh37	17	32583358	32583358	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A			TCGA-87-5896-01	TCGA-87-5896-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000225831.4:c.194T>A	p.Ile65Asn	p.I65N	ENST00000225831	NM_002982.3	65	aTc/aAc	0			1			A	I/N	uc002hhy.2	protein_coding	YES	CCDS11277.1			194/300									pancreas(1)	1	c.(193-195)ATC>AAC			hmmpanther:PTHR12015:SF78,hmmpanther:PTHR12015,PROSITE_patterns:PS00472,Pfam_domain:PF00048,Gene3D:2.40.50.40,SMART_domains:SM00199,Superfamily_domains:SSF54117	small inducible cytokine A2 precursor	Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641)			ENSP00000225831		3-Feb									COSM3402771	3-Feb	.		ENST00000225831	Transcript	1		angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication	extracellular space	CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity	ENSG00000108691	g.chr17:32583358T>A	10618			MODERATE								--	--	1																																			1	1		possibly_damaging(0.869)	p.I65N	NM_002982	NP_002973		deleterious(0.02)	1	CCL2_HUMAN	CCL2	HGNC	P13500	CCL2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Q6UZ82_HUMAN		2	267	+	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)	UPI0000000DC9	65	Missing: 90% reduction in activity.|Missing: 83% reduction in activity.				SNV	CCL2,missense_variant,p.Ile65Asn,ENST00000225831,NM_002982.3;CCL2,missense_variant,p.Met65Lys,ENST00000580907,;AC005549.3,upstream_gene_variant,,ENST00000601918,;CCL2,non_coding_transcript_exon_variant,,ENST00000582017,;	uc002hhy.2	c.194T>A	259/741	1	1			c.194T>A						17	SNP	c.(193-195)ATC>AAC	50	50			pancreas(1)	1	Broad	small inducible cytokine A2 precursor		Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641)	32583358		0.478	ENSG00000108691	2839	g.chr17:32583358T>A	angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication	extracellular space	CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity							49.264525	KEEP	4	12	-1	5	20	4	12	-1	49.617136	5	20	0.394737	1	0	0	0	0	1	0	0	0	--	--		0	A				291	GBM-87-5896-TP	p.I65N	T	GAAGCTGTGATGTGAGTTCAG	NM_002982	NP_002973	32583358	P13500	CCL2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	2	267	+	A	A	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)	Missense_Mutation	65	Missing: 90% reduction in activity.|Missing: 83% reduction in activity.					
CCL24	6369	broad.mit.edu	GRCh37	7	75442664	75442664	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-5412-01	TCGA-06-5412-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000416943.1:c.151C>G	p.Gln51Glu	p.Q51E	ENST00000416943	NM_002991.2	51	Cag/Gag	0			1			C	Q/E	uc011kga.1	protein_coding		CCDS34670.1			151/360										0	c.(151-153)CAG>GAG			Superfamily_domains:SSF54117,SMART_domains:SM00199,Pfam_domain:PF00048,Gene3D:2.40.50.40,hmmpanther:PTHR12015,hmmpanther:PTHR12015:SF13	small inducible cytokine A24 precursor				ENSP00000222902		3-Feb									COSM3412301	3-Feb	.		ENST00000222902	Transcript			cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity	ENSG00000106178	g.chr7:75442664G>C	10623			MODERATE		0.915	low	getma.org/?cm=msa&ty=f&p=CCL24_HUMAN&rb=27&re=89&var=Q51E	getma.org/pdb.php?prot=CCL24_HUMAN&from=27&to=89&var=Q51E	getma.org/?cm=var&var=hg19,7,75442664,G,C&fts=all	Q51E	--	--	1																																			1			probably_damaging(0.966)	p.Q51E	NM_002991	NP_002982		deleterious(0.01)	1	CCL24_HUMAN	CCL24	HGNC	O00175	CCL24_HUMAN					2	151	-			UPI0000050AFE	51					SNV	CCL24,missense_variant,p.Gln51Glu,ENST00000416943,NM_002991.2;CCL24,missense_variant,p.Gln51Glu,ENST00000222902,NM_002991.2;	uc011kga.1	c.151C>G	242/582	3	3			c.151C>G						7	SNP	c.(151-153)CAG>GAG	51	51				0	Broad	small inducible cytokine A24 precursor			75442664		0.562	ENSG00000106178	2844	g.chr7:75442664G>C	cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity							9.666979	KEEP	3	7	-1	41	62	3	7	-1	26.934162	41	62	0.095238	1	0	0	0	0	1	0	0	0	--	--		0	C				95	GBM-06-5412-TP	p.Q51E	G	CTGGACAGCTGGTAGCTGACC	NM_002991	NP_002982	75442664	O00175	CCL24_HUMAN	0			2	151	-	C	C			Missense_Mutation	51						
CCL24	0	broad.mit.edu	GRCh37	7	75442963	75442963	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01	TCGA-15-0742-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222902.2:c.71C>T	p.Thr24Met	p.T24M	ENST00000222902	NM_002991.2	24	aCg/aTg	0		T:0.0008	1	T:0		A	T/M	uc011kga.1	protein_coding		CCDS34670.1			71/360										0	c.(70-72)ACG>ATG			Transmembrane_helices:TMhelix,hmmpanther:PTHR12015,hmmpanther:PTHR12015:SF13	small inducible cytokine A24 precursor		T:0		ENSP00000222902	T:0	3-Jan	2.47E-05	9.63E-05	0.000173						rs200038952,COSM3412302	3-Jan	.		ENST00000222902	Transcript		T:0.0002	cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity	ENSG00000106178	g.chr7:75442963G>A	10623			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=CCL24_HUMAN&rb=1&re=56&var=T24M	NA	getma.org/?cm=var&var=hg19,7,75442963,G,A&fts=all	T24M	--	--	1																																			0,1			possibly_damaging(0.738)	p.T24M	NM_002991	NP_002982	T:0	deleterious(0.03)	0,1	CCL24_HUMAN	CCL24	HGNC	O00175	CCL24_HUMAN					1	71	-			UPI0000050AFE	24					SNV	CCL24,missense_variant,p.Thr24Met,ENST00000416943,NM_002991.2;CCL24,missense_variant,p.Thr24Met,ENST00000222902,NM_002991.2;	uc011kga.1	c.71C>T	162/582	1	1			c.71C>T						7	SNP	c.(70-72)ACG>ATG	60	60				0	Broad	small inducible cytokine A24 precursor			75442963		0.612	ENSG00000106178	2844	g.chr7:75442963G>A	cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity							213.245408	KEEP	48	46	-1	83	103	48	46	-1	219.677171	83	103	0.323276	1	0	0	0	0	1	0	0	0	--	--		0	A				153	GBM-15-0742-TP	p.T24M	G	GGTCTTACCCGTAGGGATGAT	NM_002991	NP_002982	75442963	O00175	CCL24_HUMAN	0			1	71	-	A	A			Missense_Mutation	24						
CCL3	0	broad.mit.edu	GRCh37	17	34416095	34416095	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs5029409		TCGA-27-1833-01	TCGA-27-1833-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000225245.5:c.202C>T	p.Arg68Ter	p.R68*	ENST00000225245	NM_002983.2	68	Cga/Tga	0			1			A	R/*	uc002hkv.2	protein_coding	YES	CCDS11307.1			202/279										0	c.(202-204)CGA>TGA			hmmpanther:PTHR12015,hmmpanther:PTHR12015:SF90,PROSITE_patterns:PS00472,Pfam_domain:PF00048,Gene3D:2.40.50.40,SMART_domains:SM00199,Superfamily_domains:SSF54117	chemokine (C-C motif) ligand 3				ENSP00000225245		3-Mar									COSM3402790	3-Mar	.		ENST00000225245	Transcript			cell-cell signaling|cellular calcium ion homeostasis|cellular component movement|cytoskeleton organization|exocytosis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|regulation of viral genome replication	extracellular space|soluble fraction	chemoattractant activity|chemokine activity|signal transducer activity	ENSG00000006075	g.chr17:34416095G>A	10627			HIGH								--	--	1																																			1	1			p.R68*	NM_002983	NP_002974			1	CCL3_HUMAN	CCL3	HGNC	P10147	CCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	A0N0R1_HUMAN		3	304	-		Ovarian(249;0.17)	UPI00001362C9	68	R->A: Strongly reduces heparin binding.			Involved in GAG binding.	SNV	CCL3,stop_gained,p.Arg68Ter,ENST00000225245,NM_002983.2;AC069363.1,intron_variant,,ENST00000592728,;AC069363.1,intron_variant,,ENST00000590992,;AC069363.1,intron_variant,,ENST00000441575,;CCL3,non_coding_transcript_exon_variant,,ENST00000470334,;CCL3,intron_variant,,ENST00000585830,;	uc002hkv.2	c.202C>T	285/778	5	1			c.202C>T						17	SNP	c.(202-204)CGA>TGA	64	64				0	Broad	chemokine (C-C motif) ligand 3			34416095		0.597	ENSG00000006075	2849	g.chr17:34416095G>A	cell-cell signaling|cellular calcium ion homeostasis|cellular component movement|cytoskeleton organization|exocytosis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|regulation of viral genome replication	extracellular space|soluble fraction	chemoattractant activity|chemokine activity|signal transducer activity			50			50	13.35892	KEEP	16	9	-1	120	135	16	9	-1	50.122721	120	135	0.1	1	0	0	0	0	0	1	0	0	--	--		0	A				192	GBM-27-1833-TP	p.R68*	G	TGCCGGCTTCGCTTGGTTAGG	NM_002983	NP_002974	34416095	P10147	CCL3_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	304	-	A	A		Ovarian(249;0.17)	Nonsense_Mutation	68	R->A: Strongly reduces heparin binding.			Involved in GAG binding.		
CCL4	6351		GRCh37	17	34432024	34432024	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000250151.4:c.180G>A	p.Gln60=	p.Q60=	ENST00000250151	NM_002984.2	60	caG/caA	0																																																																																																																																																																																																																																												
CCNA1	8900	broad.mit.edu	GRCh37	13	37011790	37011790	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-5411-01	TCGA-06-5411-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255465.4:c.322T>A	p.Ser108Thr	p.S108T	ENST00000255465		108	Tct/Act	0			1			A	S/T	uc001uvr.3	protein_coding	YES	CCDS9357.1			322/1398									lung(2)|skin(2)|ovary(1)	5	c.(322-324)TCT>ACT			PIRSF_domain:PIRSF001771,hmmpanther:PTHR10177:SF68,hmmpanther:PTHR10177	cyclin A1 isoform a				ENSP00000255465		9-Mar									COSM3399356	9-Mar	.		ENST00000255465	Transcript			cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	ENSG00000133101	g.chr13:37011790T>A	1577			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=CCNA1_HUMAN&rb=37&re=188&var=S108T	NA	getma.org/?cm=var&var=hg19,13,37011790,T,A&fts=all	S108T	--	--	1																																		CCNA1_uc010teo.1_Missense_Mutation_p.S64T|CCNA1_uc010abq.2_Missense_Mutation_p.S64T|CCNA1_uc010abp.2_Missense_Mutation_p.S64T|CCNA1_uc001uvs.3_Missense_Mutation_p.S107T|CCNA1_uc010abr.2_RNA	1	1		benign(0.427)	p.S108T	NM_003914	NP_003905		tolerated(0.07)	1	CCNA1_HUMAN	CCNA1	HGNC	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	Q9UNG8_HUMAN,F6KX25_HUMAN		3	672	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	UPI000012759F	108					SNV	CCNA1,missense_variant,p.Ser107Thr,ENST00000418263,NM_003914.3,NM_001111045.1;CCNA1,missense_variant,p.Ser108Thr,ENST00000255465,;CCNA1,missense_variant,p.Ser64Thr,ENST00000440264,NM_001111046.1;CCNA1,missense_variant,p.Ser64Thr,ENST00000449823,NM_001111047.1;CCNA1,non_coding_transcript_exon_variant,,ENST00000463403,;	uc001uvr.3	c.322T>A	586/1879	1	1			c.322T>A						13	SNP	c.(322-324)TCT>ACT	63	63			lung(2)|skin(2)|ovary(1)	5	Broad	cyclin A1 isoform a			37011790		0.468	ENSG00000133101	2855	g.chr13:37011790T>A	cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			263			263	-32.440819	KEEP	1	3	-1	74	97	1	3	-1	6.444428	74	97	0.025641	1	0	0	0	0	1	0	0	0	--	--		0	A			CCNA1_uc010teo.1_Missense_Mutation_p.S64T|CCNA1_uc010abq.2_Missense_Mutation_p.S64T|CCNA1_uc010abp.2_Missense_Mutation_p.S64T|CCNA1_uc001uvs.3_Missense_Mutation_p.S107T|CCNA1_uc010abr.2_RNA	94	GBM-06-5411-TP	p.S108T	T	CAGGTGTTATTCTGGATCAGA	NM_003914	NP_003905	37011790	P78396	CCNA1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	3	672	+	A	A		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	Missense_Mutation	108						
CCNB3	0	broad.mit.edu	GRCh37	X	50051674	50051674	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01	TCGA-19-2625-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276014.7:c.505G>A	p.Glu169Lys	p.E169K	ENST00000276014	NM_033031.2	169	Gaa/Aaa	0			1			A	E/K	uc004dox.3	protein_coding		CCDS14331.1			505/4188									ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	c.(505-507)GAA>AAA				cyclin B3 isoform 3				ENSP00000276014		12-May	1.65E-05							9.89E-05	rs782530814,COSM3406451	12-May	.		ENST00000276014	Transcript			cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	ENSG00000147082	g.chrX:50051674G>A	18709			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CCNB3_HUMAN&rb=1&re=200&var=E169K	NA	getma.org/?cm=var&var=hg19,X,50051674,G,A&fts=all	E169K	--	--	1																																		CCNB3_uc004doy.2_Missense_Mutation_p.E169K|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	0,1			benign(0)	p.E169K	NM_033031	NP_149020		tolerated(0.42)	0,1	CCNB3_HUMAN	CCNB3	HGNC	Q8WWL7	CCNB3_HUMAN			Q8WTR6_HUMAN		6	803	+	Ovarian(276;0.236)		UPI000022DC76	169					SNV	CCNB3,missense_variant,p.Glu169Lys,ENST00000376042,;CCNB3,missense_variant,p.Glu169Lys,ENST00000276014,NM_033031.2;CCNB3,intron_variant,,ENST00000348603,NM_033670.2;CCNB3,intron_variant,,ENST00000376038,;CCNB3,intron_variant,,ENST00000476167,;	uc004dox.3	c.505G>A	619/4509	2	2			c.505G>A						23	SNP	c.(505-507)GAA>AAA	47	47			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Broad	cyclin B3 isoform 3			50051674		0.433	ENSG00000147082	2860	g.chrX:50051674G>A	cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding							-46.190001	KEEP	4	0	-1	116	113	4	0	-1	6.961112	116	113	0.019512	1	0	0	0	0	1	0	0	0	--	--		0	A			CCNB3_uc004doy.2_Missense_Mutation_p.E169K|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	165	GBM-19-2625-TP	p.E169K	G	TATTGAGGATGAAACCCTTAT	NM_033031	NP_149020	50051674	Q8WWL7	CCNB3_HUMAN	0			6	803	+	A	A	Ovarian(276;0.236)		Missense_Mutation	169						
CCNB3	0	broad.mit.edu	GRCh37	X	50053319	50053319	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-32-2494-01	TCGA-32-2494-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276014.7:c.2150G>T	p.Ser717Ile	p.S717I	ENST00000276014	NM_033031.2	717	aGc/aTc	0			1			T	S/I	uc004dox.3	protein_coding		CCDS14331.1			2150/4188									ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	c.(2149-2151)AGC>ATC				cyclin B3 isoform 3				ENSP00000276014		12-May	1.65E-05					2.16E-05			rs781872733,COSM239212,COSM239213	12-May	.		ENST00000276014	Transcript			cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	ENSG00000147082	g.chrX:50053319G>T	18709			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=CCNB3_HUMAN&rb=601&re=800&var=S717I	NA	getma.org/?cm=var&var=hg19,X,50053319,G,T&fts=all	S717I	--	--	1																																		CCNB3_uc004doy.2_Missense_Mutation_p.S717I|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	0,1,1			benign(0.132)	p.S717I	NM_033031	NP_149020		tolerated(0.45)	0,1,1	CCNB3_HUMAN	CCNB3	HGNC	Q8WWL7	CCNB3_HUMAN			Q8WTR6_HUMAN		6	2448	+	Ovarian(276;0.236)		UPI000022DC76	717					SNV	CCNB3,missense_variant,p.Ser717Ile,ENST00000376042,;CCNB3,missense_variant,p.Ser717Ile,ENST00000276014,NM_033031.2;CCNB3,intron_variant,,ENST00000376038,;CCNB3,intron_variant,,ENST00000348603,NM_033670.2;CCNB3,intron_variant,,ENST00000476167,;	uc004dox.3	c.2150G>T	2264/4509	2	2			c.2150G>T						23	SNP	c.(2149-2151)AGC>ATC	32	32			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Broad	cyclin B3 isoform 3			50053319		0.453	ENSG00000147082	2860	g.chrX:50053319G>T	cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding							67.744512	KEEP	15	15	0.5	55	35	15	15	0.5	73.248643	55	35	0.261682	1	0	0	0	0	1	0	0	0	--	--		0	T			CCNB3_uc004doy.2_Missense_Mutation_p.S717I|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	236	GBM-32-2494-TP	p.S717I	G	CAGGAGAAAAGCACCATGGAA	NM_033031	NP_149020	50053319	Q8WWL7	CCNB3_HUMAN	0			6	2448	+	T	T	Ovarian(276;0.236)		Missense_Mutation	717						
CCND2	0	broad.mit.edu	GRCh37	12	4398029	4398029	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-4928-01	TCGA-76-4928-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261254.3:c.593C>G	p.Pro198Arg	p.P198R	ENST00000261254	NM_001759.3	198	cCa/cGa	0			1			G	P/R	uc001qmo.2	protein_coding	YES	CCDS8524.1			593/870	T		IGL@		NHL,CLL				haematopoietic_and_lymphoid_tissue(1)|breast(1)|kidney(1)	3	c.(592-594)CCA>CGA			Superfamily_domains:SSF47954,PIRSF_domain:PIRSF001771,Pfam_domain:PF02984,Gene3D:1.10.472.10,hmmpanther:PTHR10177:SF66,hmmpanther:PTHR10177	cyclin D2				ENSP00000261254		5-Apr									COSM3398722	5-Apr	.		ENST00000261254	Transcript	1		cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	ENSG00000118971	g.chr12:4398029C>G	1583			MODERATE		2.785	medium	getma.org/?cm=msa&ty=f&p=CCND2_HUMAN&rb=154&re=281&var=P198R	getma.org/pdb.php?prot=CCND2_HUMAN&from=154&to=281&var=P198R	getma.org/?cm=var&var=hg19,12,4398029,C,G&fts=all	P198R	--	--	1																																			1	1		probably_damaging(0.995)	p.P198R	NM_001759	NP_001750		deleterious(0)	1	CCND2_HUMAN	CCND2	HGNC	P30279	CCND2_HUMAN	all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)				4	898	+			UPI00001275C5	198					SNV	CCND2,missense_variant,p.Pro198Arg,ENST00000261254,NM_001759.3;CCND2,intron_variant,,ENST00000536537,;CCND2,downstream_gene_variant,,ENST00000541542,;CCND2,non_coding_transcript_exon_variant,,ENST00000536795,;	uc001qmo.2	c.593C>G	862/6480	3	3			c.593C>G	T		IGL@		NHL,CLL	12	SNP	c.(592-594)CCA>CGA	51	51			haematopoietic_and_lymphoid_tissue(1)|breast(1)|kidney(1)	3	Broad	cyclin D2			4398029		0.547	ENSG00000118971	2863	g.chr12:4398029C>G	cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			84			84	54.106281	KEEP	18	31	-1	179	208	18	31	-1	107.040606	179	208	0.113889	1	0	0	0	0	1	0	0	0	--	--		0	G				268	GBM-76-4928-TP	p.P198R	C	GCCATGTACCCACCGTCGATG	NM_001759	NP_001750	4398029	P30279	CCND2_HUMAN	0	all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)		4	898	+	G	G			Missense_Mutation	198						
CCND3	896	broad.mit.edu	GRCh37	6	41903737	41903738	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0129-01	TCGA-06-0129-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372991.4:c.819dup	p.Ser274GlnfsTer50	p.S274Qfs*50	ENST00000372991	NM_001760.3	273	-/C	0			1			G	-/X	uc003orn.2	protein_coding	YES	CCDS4863.1			819-820/879	T		IGH@		MM					0	c.(817-822)TCCAGCfs			Low_complexity_(Seg):seg,hmmpanther:PTHR10177:SF65,hmmpanther:PTHR10177,PIRSF_domain:PIRSF001771	cyclin D3 isoform 2				ENSP00000362082		5-May										5-May	.		ENST00000372991	Transcript			cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	ENSG00000112576	g.chr6:41903737_41903738insG	1585			HIGH								--	--	1																																		CCND3_uc003orp.2_Frame_Shift_Ins_p.S192fs|CCND3_uc011duk.1_Frame_Shift_Ins_p.S77fs|CCND3_uc003orm.2_Frame_Shift_Ins_p.S223fs|CCND3_uc003oro.2_Frame_Shift_Ins_p.S201fs		1			p.S273fs	NM_001760	NP_001751				CCND3_HUMAN	CCND3	HGNC	P30281	CCND3_HUMAN	Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		D6RIX2_HUMAN,D6RDL3_HUMAN		5	984_985	-	Colorectal(47;0.121)		UPI00001275C9	273_274					insertion	CCND3,frameshift_variant,p.Ser193GlnfsTer50,ENST00000511642,;CCND3,frameshift_variant,p.Ser224GlnfsTer50,ENST00000372987,NM_001287427.1;CCND3,frameshift_variant,p.Ser193GlnfsTer50,ENST00000372988,NM_001136017.2;CCND3,frameshift_variant,p.Ser274GlnfsTer50,ENST00000372991,NM_001760.3;CCND3,frameshift_variant,p.Ser78GlnfsTer50,ENST00000415497,NM_001136126.1;CCND3,frameshift_variant,p.Ser202GlnfsTer50,ENST00000414200,NM_001136125.1;CCND3,frameshift_variant,p.Gln147ProfsTer31,ENST00000510503,;BYSL,downstream_gene_variant,,ENST00000230340,NM_004053.3;CCND3,downstream_gene_variant,,ENST00000512426,;CCND3,downstream_gene_variant,,ENST00000508143,;CCND3,downstream_gene_variant,,ENST00000502771,;CCND3,downstream_gene_variant,,ENST00000505064,;CCND3,downstream_gene_variant,,ENST00000514588,;CCND3,non_coding_transcript_exon_variant,,ENST00000511686,;CCND3,downstream_gene_variant,,ENST00000513956,;CCND3,downstream_gene_variant,,ENST00000514382,;CCND3,downstream_gene_variant,,ENST00000506555,;BYSL,downstream_gene_variant,,ENST00000372996,;BYSL,downstream_gene_variant,,ENST00000489290,;CCND3,downstream_gene_variant,,ENST00000505672,;CCND3,downstream_gene_variant,,ENST00000510058,;CCND3,downstream_gene_variant,,ENST00000505884,;CCND3,downstream_gene_variant,,ENST00000511161,;	uc003orn.2	c.819_820insC	1018-1019/2085	5	5			c.819_820insC	T		IGH@		MM	6	INS	c.(817-822)TCCAGCfs	32	32				0	Broad	cyclin D3 isoform 2			41903738		0.649	ENSG00000112576	2864	g.chr6:41903737_41903738insG	cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			70			70														0.02	1	0	0	1	1	0	0	0	0	--	--		0	G			CCND3_uc003orp.2_Frame_Shift_Ins_p.S192fs|CCND3_uc011duk.1_Frame_Shift_Ins_p.S77fs|CCND3_uc003orm.2_Frame_Shift_Ins_p.S223fs|CCND3_uc003oro.2_Frame_Shift_Ins_p.S201fs	15	GBM-06-0129-TP	p.S273fs	-	CCTTGGCTGCTGGAGCCCCGGG	NM_001760	NP_001751	41903737	P30281	CCND3_HUMAN	0	Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		5	984_985	-	G	G	Colorectal(47;0.121)		Frame_Shift_Ins	273_274						
CCNE2	9134	broad.mit.edu	GRCh37	8	95900206	95900206	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0686-01	TCGA-06-0686-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000520509.1:c.549T>G	p.Asn183Lys	p.N183K	ENST00000520509		183	aaT/aaG	0			1			C	N/K	uc003yhc.2	protein_coding		CCDS6264.1			549/1215										0	c.(547-549)AAT>AAG			hmmpanther:PTHR10177:SF70,hmmpanther:PTHR10177,Gene3D:1.10.472.10,Pfam_domain:PF00134,PIRSF_domain:PIRSF001771,SMART_domains:SM00385,Superfamily_domains:SSF47954	cyclin E2				ENSP00000309181		12-Jul									COSM2151558	12-Jul	.		ENST00000308108	Transcript			cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding	ENSG00000175305	g.chr8:95900206A>C	1590			MODERATE		0.66	neutral	getma.org/?cm=msa&ty=f&p=CCNE2_HUMAN&rb=112&re=239&var=N183K	getma.org/pdb.php?prot=CCNE2_HUMAN&from=112&to=239&var=N183K	getma.org/?cm=var&var=hg19,8,95900206,A,C&fts=all	N183K	--	--	1																																		CCNE2_uc003yhd.2_Missense_Mutation_p.N183K	1			benign(0.253)	p.N183K	NM_057749	NP_477097		deleterious(0.04)	1	CCNE2_HUMAN	CCNE2	HGNC	O96020	CCNE2_HUMAN					7	658	-	Breast(36;8.75e-07)		UPI00001275CF	183					SNV	CCNE2,missense_variant,p.Asn183Lys,ENST00000520509,;CCNE2,missense_variant,p.Asn183Lys,ENST00000308108,NM_057749.2;CCNE2,missense_variant,p.Asn183Lys,ENST00000396133,;CCNE2,missense_variant,p.Asn47Lys,ENST00000524224,;RP11-347C18.5,downstream_gene_variant,,ENST00000605911,;CCNE2,non_coding_transcript_exon_variant,,ENST00000523476,;CCNE2,3_prime_UTR_variant,,ENST00000521809,;CCNE2,downstream_gene_variant,,ENST00000519889,;RP11-347C18.1,upstream_gene_variant,,ENST00000391360,;	uc003yhc.2	c.549T>G	655/2726	4	4			c.549T>G						8	SNP	c.(547-549)AAT>AAG	41	41				0	Broad	cyclin E2			95900206		0.284	ENSG00000175305	2867	g.chr8:95900206A>C	cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding							138.143069	KEEP	22	18	-1	30	24	22	18	-1	138.616368	30	24	0.422222	1	0	0	0	0	1	0	0	0	--	--		0	C			CCNE2_uc003yhd.2_Missense_Mutation_p.N183K	64	GBM-06-0686-TP	p.N183K	A	GTTGAAGCATATTTTTATTTA	NM_057749	NP_477097	95900206	O96020	CCNE2_HUMAN	0			7	658	-	C	C	Breast(36;8.75e-07)		Missense_Mutation	183						
CCNF	899		GRCh37	16	2506722	2506722	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000397066.4:c.2062C>T	p.Arg688Cys	p.R688C	ENST00000397066	NM_001761.2	688	Cgc/Tgc	0																																																																																																																																																																																																																																												
CCNG1	0	broad.mit.edu	GRCh37	5	162869506	162869506	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340828.2:c.823C>T	p.Arg275Trp	p.R275W	ENST00000340828	NM_004060.3	275	Cgg/Tgg	0		T:0	1	T:0		T	R/W	uc003lzb.2	protein_coding	YES	CCDS4360.1			823/888									lung(1)|kidney(1)	2	c.(823-825)CGG>TGG			hmmpanther:PTHR10177,hmmpanther:PTHR10177:SF59	cyclin G1		T:0.001		ENSP00000344635	T:0	7-Jun	7.41E-05	9.65E-05		0.000694		1.50E-05		6.07E-05	rs201575982,COSM3410090	7-Jun	common_variant		ENST00000340828	Transcript		T:0.0002	cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus		ENSG00000113328	g.chr5:162869506C>T	1592			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=CCNG1_HUMAN&rb=151&re=295&var=R275W	NA	getma.org/?cm=var&var=hg19,5,162869506,C,T&fts=all	R275W	--	--	1																																		CCNG1_uc011dek.1_Missense_Mutation_p.R139W|CCNG1_uc011del.1_Missense_Mutation_p.R139W|CCNG1_uc003lzc.2_RNA	0,1	1		benign(0.003)	p.R275W	NM_199246	NP_954854	T:0	tolerated(0.12)	0,1	CCNG1_HUMAN	CCNG1	HGNC	P51959	CCNG1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)	D6RGX3_HUMAN,D6RCC5_HUMAN,B4DLW7_HUMAN		7	957	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	UPI00001275D2	275	RQLKHSYYRITHLPTIPEMVP -> LKWSLNWIITAPKNFS EAFLHNLVLWIP (in Ref. 4; AAB03903).				SNV	CCNG1,missense_variant,p.Arg275Trp,ENST00000340828,NM_004060.3;CCNG1,missense_variant,p.Arg275Trp,ENST00000393929,NM_199246.1;CCNG1,missense_variant,p.Arg141Trp,ENST00000511683,;CCNG1,missense_variant,p.Arg147Trp,ENST00000510664,;CCNG1,missense_variant,p.Arg141Trp,ENST00000512163,;CCNG1,intron_variant,,ENST00000504553,;AC112205.1,intron_variant,,ENST00000599797,;NUDCD2,downstream_gene_variant,,ENST00000302764,NM_145266.4;CCNG1,downstream_gene_variant,,ENST00000510097,;CCNG1,downstream_gene_variant,,ENST00000511490,;CCNG1,upstream_gene_variant,,ENST00000509425,;CCNG1,upstream_gene_variant,,ENST00000509143,;CCNG1,non_coding_transcript_exon_variant,,ENST00000514367,;CCNG1,downstream_gene_variant,,ENST00000506186,;CCNG1,downstream_gene_variant,,ENST00000512532,;	uc003lzb.2	c.823C>T	1047/2458	1	1			c.823C>T						5	SNP	c.(823-825)CGG>TGG	1	1			lung(1)|kidney(1)	2	Broad	cyclin G1			162869506		0.378	ENSG00000113328	2869	g.chr5:162869506C>T	cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus				99			99	217.391315	KEEP	37	51	-1	64	100	37	51	-1	221.653061	64	100	0.351598	1	0	0	0	0	1	0	0	0	--	--		0	T			CCNG1_uc011dek.1_Missense_Mutation_p.R139W|CCNG1_uc011del.1_Missense_Mutation_p.R139W|CCNG1_uc003lzc.2_RNA	129	GBM-12-5295-TP	p.R275W	C	GCGTACTGCACGGCAATTGAA	NM_199246	NP_954854	162869506	P51959	CCNG1_HUMAN	0	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)	7	957	+	T	T	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Missense_Mutation	275	RQLKHSYYRITHLPTIPEMVP -> LKWSLNWIITAPKNFS EAFLHNLVLWIP (in Ref. 4; AAB03903).					
CCNG1	0	broad.mit.edu	GRCh37	5	162868235	162868235	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-4157-01	TCGA-14-4157-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340828.2:c.416A>G	p.Lys139Arg	p.K139R	ENST00000340828	NM_004060.3	139	aAg/aGg	0			1			G	K/R	uc003lzb.2	protein_coding	YES	CCDS4360.1			416/888									lung(1)|kidney(1)	2	c.(415-417)AAG>AGG			Gene3D:1.10.472.10,Pfam_domain:PF00134,hmmpanther:PTHR10177,hmmpanther:PTHR10177:SF59,SMART_domains:SM00385,Superfamily_domains:SSF47954	cyclin G1				ENSP00000344635		7-Mar									COSM3410089	7-Mar	.		ENST00000340828	Transcript			cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus		ENSG00000113328	g.chr5:162868235A>G	1592			MODERATE		1.38	low	getma.org/?cm=msa&ty=f&p=CCNG1_HUMAN&rb=17&re=150&var=K139R	getma.org/pdb.php?prot=CCNG1_HUMAN&from=17&to=150&var=K139R	getma.org/?cm=var&var=hg19,5,162868235,A,G&fts=all	K139R	--	--	1																																		CCNG1_uc011dek.1_Missense_Mutation_p.K3R|CCNG1_uc011del.1_Missense_Mutation_p.K3R|CCNG1_uc003lzc.2_RNA	1	1		benign(0.123)	p.K139R	NM_199246	NP_954854		tolerated(0.15)	1	CCNG1_HUMAN	CCNG1	HGNC	P51959	CCNG1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)	D6RGX3_HUMAN,D6RCC5_HUMAN,B4DLW7_HUMAN		4	550	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	UPI00001275D2	139					SNV	CCNG1,missense_variant,p.Lys139Arg,ENST00000340828,NM_004060.3;CCNG1,missense_variant,p.Lys139Arg,ENST00000393929,NM_199246.1;CCNG1,missense_variant,p.Lys5Arg,ENST00000511683,;CCNG1,missense_variant,p.Lys11Arg,ENST00000510664,;CCNG1,missense_variant,p.Lys5Arg,ENST00000512163,;CCNG1,missense_variant,p.Lys5Arg,ENST00000504553,;AC112205.1,intron_variant,,ENST00000599797,;CCNG1,downstream_gene_variant,,ENST00000510097,;CCNG1,downstream_gene_variant,,ENST00000511490,;RP11-541P9.3,upstream_gene_variant,,ENST00000503504,;RP11-541P9.3,upstream_gene_variant,,ENST00000458002,;CCNG1,upstream_gene_variant,,ENST00000509425,;CCNG1,upstream_gene_variant,,ENST00000509143,;CCNG1,non_coding_transcript_exon_variant,,ENST00000512532,;CCNG1,downstream_gene_variant,,ENST00000506186,;CCNG1,upstream_gene_variant,,ENST00000514367,;	uc003lzb.2	c.416A>G	640/2458	4	4			c.416A>G						5	SNP	c.(415-417)AAG>AGG	31	31			lung(1)|kidney(1)	2	Broad	cyclin G1			162868235		0.378	ENSG00000113328	2869	g.chr5:162868235A>G	cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus				99			99	-38.776659	KEEP	3	3	-1	90	120	3	3	-1	9.694802	90	120	0.021164	1	0	0	0	0	1	0	0	0	--	--		0	G			CCNG1_uc011dek.1_Missense_Mutation_p.K3R|CCNG1_uc011del.1_Missense_Mutation_p.K3R|CCNG1_uc003lzc.2_RNA	152	GBM-14-4157-TP	p.K139R	A	AGAATGGAAAAGATTGTATTG	NM_199246	NP_954854	162868235	P51959	CCNG1_HUMAN	0	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)	4	550	+	G	G	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Missense_Mutation	139						
CCNT1	904	broad.mit.edu	GRCh37	12	49087434	49087436	+	inframe_deletion	In_Frame_Del	DEL	ATG	ATG	-			TCGA-06-2567-01	TCGA-06-2567-01	ATG	ATG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261900.3:c.1561_1563del	p.His521del	p.H521del	ENST00000261900	NM_001240.3	521	CAT/-	0	-:0.0028		1			-	H/-	uc001rse.1	protein_coding	YES	CCDS8766.1			1561-1563/2181									ovary(3)|lung(1)|breast(1)|skin(1)	6	c.(1561-1563)CATdel			hmmpanther:PTHR10026,hmmpanther:PTHR10026:SF42,Low_complexity_(Seg):seg	cyclin T1			-:0.0004	ENSP00000261900		9-Sep	0.000461	0.00433	0.000173			4.50E-05		0.000364	rs371197465,COSM391026	9-Sep	common_variant		ENST00000261900	Transcript			cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	ENSG00000129315	g.chr12:49087434_49087436delATG	1599			MODERATE								--	--	1																																		LOC144438_uc001rsd.3_5'Flank|CCNT1_uc009zkz.1_In_Frame_Del_p.H236del	0,1	1			p.H521del	NM_001240	NP_001231			0,1	CCNT1_HUMAN	CCNT1	HGNC	O60563	CCNT1_HUMAN					9	1884_1886	-			UPI0000044259	521			His-rich.		deletion	CCNT1,inframe_deletion,p.His521del,ENST00000261900,NM_001240.3,NM_001277842.1;CCNT1,3_prime_UTR_variant,,ENST00000417344,;CCNT1,downstream_gene_variant,,ENST00000551989,;	uc001rse.1	c.1561_1563delCAT	1784-1786/6973	5	5			c.1561_1563delCAT						12	DEL	c.(1561-1563)CATdel	8	8			ovary(3)|lung(1)|breast(1)|skin(1)	6	Broad	cyclin T1			49087436		0.443	ENSG00000129315	2879	g.chr12:49087434_49087436delATG	cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding		p.H521Y(HT1376-Tumor)	169		p.H521Y(HT1376-Tumor)	169														0.01	1	1	0	1	0	0	0	0	0	--	--		0	-			LOC144438_uc001rsd.3_5'Flank|CCNT1_uc009zkz.1_In_Frame_Del_p.H236del	89	GBM-06-2567-TP	p.H521del	ATG	AGTGGTGATTATGATGATGATGA	NM_001240	NP_001231	49087434	O60563	CCNT1_HUMAN	0			9	1884_1886	-	-	-			In_Frame_Del	521			His-rich.			
CCNY	219771	broad.mit.edu	GRCh37	10	35819172	35819172	+	splice_donor_variant	Splice_Site	SNP	G	G	A			TCGA-06-0124-01	TCGA-06-0124-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374704.4:c.579+1G>A		p.X193_splice	ENST00000374704	NM_145012.4	193		0			1			A		uc001iyw.3	protein_coding	YES	CCDS7189.1			579/1026										0	c.e7+1				cyclin Y isoform 1				ENSP00000363836											COSM3397106,COSM3397105		.		ENST00000374704	Transcript			cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding	ENSG00000108100	g.chr10:35819172G>A	23354			HIGH	9-Jul							--	--	1																																		CCNY_uc001iyu.3_Splice_Site_p.L139_splice|CCNY_uc001iyv.3_Splice_Site_p.L139_splice|CCNY_uc001iyx.3_Splice_Site_p.L139_splice|CCNY_uc009xmb.2_Splice_Site_p.L168_splice|CCNY_uc010qet.1_Splice_Site_p.L60_splice	1,1	1			p.L193_splice	NM_145012	NP_659449			1,1	CCNY_HUMAN	CCNY	HGNC	Q8ND76	CCNY_HUMAN			R4GN48_HUMAN		7	759	+			UPI000013EFE5						SNV	CCNY,splice_donor_variant,,ENST00000374704,NM_145012.4;CCNY,splice_donor_variant,,ENST00000265375,;CCNY,splice_donor_variant,,ENST00000374706,NM_181698.2,NM_001282853.1;CCNY,splice_donor_variant,,ENST00000339497,NM_001282852.1;CCNY,downstream_gene_variant,,ENST00000493157,;CCNY,splice_donor_variant,,ENST00000492478,;CCNY,splice_donor_variant,,ENST00000497692,;CCNY,splice_donor_variant,,ENST00000465416,;	uc001iyw.3	c.579_splice	-/3960	5	1			c.579_splice						10	SNP	c.e7+1	64	64				0	Broad	cyclin Y isoform 1			35819172		0.577	ENSG00000108100	2881	g.chr10:35819172G>A	cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding							72.674708	KEEP	18	10	-1	11	11	18	10	-1	72.717071	11	11	0.531915	1	0	0	0	0	0	0	0	1	--	--		0	A			CCNY_uc001iyu.3_Splice_Site_p.L139_splice|CCNY_uc001iyv.3_Splice_Site_p.L139_splice|CCNY_uc001iyx.3_Splice_Site_p.L139_splice|CCNY_uc009xmb.2_Splice_Site_p.L168_splice|CCNY_uc010qet.1_Splice_Site_p.L60_splice	11	GBM-06-0124-TP	p.L193_splice	G	CGTCACCCTGGTGAGTGCCCT	NM_145012	NP_659449	35819172	Q8ND76	CCNY_HUMAN	0			7	759	+	A	A			Splice_Site							
CCP110	9738	broad.mit.edu	GRCh37	16	19547973	19547973	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381396.5:c.982C>T	p.Arg328Ter	p.R328*	ENST00000381396	NM_001199022.1	328	Cga/Tga	0			1			T	R/*	uc002dgl.3	protein_coding	YES	CCDS55992.1			982/3039										0	c.(982-984)CGA>TGA			hmmpanther:PTHR13594	RecName: Full=Centrosomal protein of 110 kDa;          Short=Cep110;				ENSP00000370803		15-Apr									COSM967898	15-Apr	.		ENST00000381396	Transcript			centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding	ENSG00000103540	g.chr16:19547973C>T	24342			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,16,19547973,C,T&fts=all	R328*	--	--	1																																		CP110_uc002dgk.3_Nonsense_Mutation_p.R328*	1	1			p.R328*					1	CP110_HUMAN	CCP110	HGNC	O43303	CP110_HUMAN					4	1229	+			UPI0000D619A9	328					SNV	CCP110,stop_gained,p.Arg328Ter,ENST00000396212,NM_014711.4;CCP110,stop_gained,p.Arg328Ter,ENST00000381396,NM_001199022.1;CCP110,stop_gained,p.Arg328Ter,ENST00000396208,;CCP110,downstream_gene_variant,,ENST00000561888,;CCP110,intron_variant,,ENST00000562083,;	uc002dgl.3	c.982C>T	1229/5446	5	1			c.982C>T						16	SNP	c.(982-984)CGA>TGA	3	3				0	Broad	RecName: Full=Centrosomal protein of 110 kDa;          Short=Cep110;			19547973		0.373	ENSG00000103540	3723	g.chr16:19547973C>T	centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding							124.751738	KEEP	27	23	-1	52	53	27	23	-1	129.04689	52	53	0.314286	1	0	0	0	0	0	1	0	0	--	--		0	T			CP110_uc002dgk.3_Nonsense_Mutation_p.R328*	46	GBM-06-0209-TP	p.R328*	C	CATACCTATACGAACTGGCCA			19547973	O43303	CP110_HUMAN	0			4	1229	+	T	T			Nonsense_Mutation	328						
CCPG1	0	broad.mit.edu	GRCh37	15	55652558	55652559	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C			TCGA-19-2624-01	TCGA-19-2624-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310958.6:c.1412dupG	p.Arg472GlnfsTer7	p.R472Qfs*7	ENST00000310958	NM_001204451.1	471	ggc/ggGc	0			1			C	G/GX	uc002acv.1	protein_coding		CCDS42039.1			1412-1413/2274									ovary(1)	1	c.(1411-1413)GGCfs			Low_complexity_(Seg):seg	cell cycle progression 1 isoform 2				ENSP00000311656		8-Aug										8-Aug	.		ENST00000310958	Transcript			cell cycle	integral to membrane		ENSG00000260916	g.chr15:55652558_55652559insC	24227			HIGH								--	--	1																																		CCPG1_uc002acy.2_Frame_Shift_Ins_p.G471fs|CCPG1_uc002acu.1_Frame_Shift_Ins_p.G327fs|CCPG1_uc002acw.1_Frame_Shift_Ins_p.G196fs|CCPG1_uc002acx.2_Intron|CCPG1_uc010bfk.1_Frame_Shift_Ins_p.G471fs|CCPG1_uc002acz.1_Frame_Shift_Ins_p.G471fs					p.G471fs	NM_020739	NP_065790				CCPG1_HUMAN	CCPG1	HGNC	Q9ULG6	CCPG1_HUMAN		all cancers(107;0.0354)	H3BTZ1_HUMAN,H3BR24_HUMAN		8	1577_1578	-			UPI000013F0C7	471			Lumenal (Potential).		insertion	CCPG1,frameshift_variant,p.Arg472GlnfsTer7,ENST00000310958,NM_001204451.1,NM_001204450.1,NM_020739.3,NM_004748.4;CCPG1,frameshift_variant,p.Arg472GlnfsTer7,ENST00000442196,;CCPG1,frameshift_variant,p.Arg472GlnfsTer7,ENST00000569205,;CCPG1,intron_variant,,ENST00000425574,;CCPG1,intron_variant,,ENST00000568543,;PIGB,downstream_gene_variant,,ENST00000164305,NM_004855.4;PIGB,downstream_gene_variant,,ENST00000539642,;CCPG1,upstream_gene_variant,,ENST00000568592,;CCPG1,upstream_gene_variant,,ENST00000564663,;DYX1C1-CCPG1,non_coding_transcript_exon_variant,,ENST00000565113,;CCPG1,3_prime_UTR_variant,,ENST00000568808,;CCPG1,non_coding_transcript_exon_variant,,ENST00000568372,;PIGB,downstream_gene_variant,,ENST00000563742,;PIGB,downstream_gene_variant,,ENST00000565367,;PIGB,downstream_gene_variant,,ENST00000565502,;PIGB,downstream_gene_variant,,ENST00000562751,;	uc002acv.1	c.1412_1413insG	1711-1712/6822	5	5			c.1412_1413insG						15	INS	c.(1411-1413)GGCfs	59	59			ovary(1)	1	Broad	cell cycle progression 1 isoform 2			55652559		0.391	ENSG00000260916	2883	g.chr15:55652558_55652559insC	cell cycle	integral to membrane																					0.01	1	0	0	1	1	0	0	0	0	--	--		0	C			CCPG1_uc002acy.2_Frame_Shift_Ins_p.G471fs|CCPG1_uc002acu.1_Frame_Shift_Ins_p.G327fs|CCPG1_uc002acw.1_Frame_Shift_Ins_p.G196fs|CCPG1_uc002acx.2_Intron|CCPG1_uc010bfk.1_Frame_Shift_Ins_p.G471fs|CCPG1_uc002acz.1_Frame_Shift_Ins_p.G471fs	164	GBM-19-2624-TP	p.G471fs	-	GGCTTCCTCTGCCCCCTTTCTT	NM_020739	NP_065790	55652558	Q9ULG6	CCPG1_HUMAN	0		all cancers(107;0.0354)	8	1577_1578	-	C	C			Frame_Shift_Ins	471			Lumenal (Potential).			
CCR1	1230	broad.mit.edu	GRCh37	3	46245393	46245393	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5408-01	TCGA-06-5408-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296140.3:c.412G>A	p.Ala138Thr	p.A138T	ENST00000296140	NM_001295.2	138	Gcc/Acc	0			1			T	A/T	uc003cph.1	protein_coding	YES	CCDS2737.1			412/1068									skin(2)|pancreas(1)	3	c.(412-414)GCC>ACC			PROSITE_profiles:PS50262,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF61,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00657	chemokine (C-C motif) receptor 1				ENSP00000296140		2-Feb	1.65E-05			0.000116		1.50E-05			rs747244913,COSM3408686	2-Feb	.		ENST00000296140	Transcript			cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity	ENSG00000163823	g.chr3:46245393C>T	1602			MODERATE		2.955	medium	getma.org/?cm=msa&ty=f&p=CCR1_HUMAN&rb=51&re=301&var=A138T	getma.org/pdb.php?prot=CCR1_HUMAN&from=51&to=301&var=A138T	getma.org/?cm=var&var=hg19,3,46245393,C,T&fts=all	A138T	--	--	1																																		CCR3_uc003cpg.1_Intron	0,1	1		benign(0.297)	p.A138T	NM_001295	NP_001286		deleterious(0.01)	0,1	CCR1_HUMAN	CCR1	HGNC	P32246	CCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	Q5U003_HUMAN		2	483	-			UPI0000043584	138			Cytoplasmic (Potential).		SNV	CCR1,missense_variant,p.Ala138Thr,ENST00000296140,NM_001295.2;CCR3,intron_variant,,ENST00000357422,;	uc003cph.1	c.412G>A	538/2731	2	2			c.412G>A						3	SNP	c.(412-414)GCC>ACC	48	48			skin(2)|pancreas(1)	3	Broad	chemokine (C-C motif) receptor 1			46245393		0.512	ENSG00000163823	2884	g.chr3:46245393C>T	cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			20			20	62.270049	KEEP	9	15	-1	34	24	9	15	-1	64.56554	34	24	0.315789	1	0	0	0	0	1	0	0	0	--	--		0	T			CCR3_uc003cpg.1_Intron	92	GBM-06-5408-TP	p.A138T	C	GCAAACACGGCGTGGACGATG	NM_001295	NP_001286	46245393	P32246	CCR1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	483	-	T	T			Missense_Mutation	138			Cytoplasmic (Potential).			
CCR3	1232	broad.mit.edu	GRCh37	3	46307517	46307517	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2570-01	TCGA-06-2570-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000545097.1:c.931G>A	p.Ala311Thr	p.A311T	ENST00000545097	NM_001164680.1	311	Gcc/Acc	0			1			A	A/T	uc003cpg.1	protein_coding		CCDS2738.1			868/1068									ovary(3)|lung(3)|breast(1)|kidney(1)	8	c.(868-870)GCC>ACC			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF13,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00657	CC chemokine receptor 3 isoform 1				ENSP00000350003		4-Apr									rs199944063,COSM1328210,COSM3408687	4-Apr	.		ENST00000357422	Transcript			cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane		ENSG00000183625	g.chr3:46307517G>A	1604			MODERATE		2.815	medium	getma.org/?cm=msa&ty=f&p=CCR3_HUMAN&rb=51&re=301&var=A290T	getma.org/pdb.php?prot=CCR3_HUMAN&from=51&to=301&var=A290T	getma.org/?cm=var&var=hg19,3,46307517,G,A&fts=all	A290T	--	--	1																																		CCR3_uc003cpi.1_Missense_Mutation_p.A290T|CCR3_uc003cpj.1_Missense_Mutation_p.A290T|CCR3_uc003cpk.1_Missense_Mutation_p.A311T|CCR3_uc010hjb.1_Missense_Mutation_p.A308T|CCR3_uc003cpl.1_Missense_Mutation_p.A323T	0,1,1			possibly_damaging(0.474)	p.A290T	NM_178329	NP_847899		deleterious(0.04)	0,1,1	CCR3_HUMAN	CCR3	HGNC	P51677	CCR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)	Q96T97_HUMAN,Q96T96_HUMAN,Q8TDP8_HUMAN,Q8TDP5_HUMAN,Q8TDP4_HUMAN		4	1411	+			UPI0000033A70	290			Helical; Name=7; (Potential).		SNV	CCR3,missense_variant,p.Ala290Thr,ENST00000357422,;CCR3,missense_variant,p.Ala290Thr,ENST00000541018,NM_001837.3;CCR3,missense_variant,p.Ala311Thr,ENST00000545097,NM_001164680.1,NM_178328.1;CCR3,missense_variant,p.Ala290Thr,ENST00000395940,NM_178329.2;CCR3,missense_variant,p.Ala290Thr,ENST00000395942,;CCR3,downstream_gene_variant,,ENST00000452454,;CCR3,downstream_gene_variant,,ENST00000457243,;CCR3,downstream_gene_variant,,ENST00000475150,;CCR3,downstream_gene_variant,,ENST00000484025,;	uc003cpg.1	c.868G>A	1411/2000	1	1			c.868G>A						3	SNP	c.(868-870)GCC>ACC	60	60			ovary(3)|lung(3)|breast(1)|kidney(1)	8	Broad	CC chemokine receptor 3 isoform 1			46307517		0.522	ENSG00000183625	2887	g.chr3:46307517G>A	cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				19			19	-20.060611	KEEP	2	4	-1	62	76	2	4	-1	9.9217	62	76	0.044444	1	0	0	0	0	1	0	0	0	--	--		0	A			CCR3_uc003cpi.1_Missense_Mutation_p.A290T|CCR3_uc003cpj.1_Missense_Mutation_p.A290T|CCR3_uc003cpk.1_Missense_Mutation_p.A311T|CCR3_uc010hjb.1_Missense_Mutation_p.A308T|CCR3_uc003cpl.1_Missense_Mutation_p.A323T	91	GBM-06-2570-TP	p.A290T	G	AGAGGTGATCGCCTACTCCCA	NM_178329	NP_847899	46307517	P51677	CCR3_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)	4	1411	+	A	A			Missense_Mutation	290			Helical; Name=7; (Potential).			
CCR8	1237		GRCh37	3	39374277	39374277	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000326306.4:c.455C>T	p.Thr152Met	p.T152M	ENST00000326306	NM_005201.3	152	aCg/aTg	0																																																																																																																																																																																																																																												
CCR9	0	broad.mit.edu	GRCh37	3	45942421	45942421	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1970-01	TCGA-32-1970-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357632.2:c.141G>A	p.Ala47=	p.A47=	ENST00000357632	NM_031200.2	47	gcG/gcA	0	A:0		1			A	A	uc003coz.1	protein_coding	YES	CCDS2732.1			141/1110									ovary(2)|breast(1)	3	c.(139-141)GCG>GCA			Gene3D:1.20.1070.10,Prints_domain:PR00657,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF62,Superfamily_domains:SSF81321	chemokine (C-C motif) receptor 9 isoform A			A:0.0001	ENSP00000350256		3-Mar	1.65E-05					3.00E-05			rs372974725,COSM3408685	3-Mar	.		ENST00000357632	Transcript			cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane		ENSG00000173585	g.chr3:45942421G>A	1610			LOW								--	--	1																																		LZTFL1_uc003coy.1_Intron|LZTFL1_uc011bak.1_Intron|CCR9_uc010hiv.1_Silent_p.A35A|CCR9_uc003cpa.1_Silent_p.A35A	0,1	1			p.A47A	NM_031200	NP_112477			0,1	CCR9_HUMAN	CCR9	HGNC	P51686	CCR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)	Q9UN87_HUMAN		3	298	+			UPI0000039DBB	47			Extracellular (Potential).		SNV	CCR9,missense_variant,p.Arg76Gln,ENST00000422395,;CCR9,synonymous_variant,p.=,ENST00000357632,NM_031200.2,NM_001256369.1;CCR9,synonymous_variant,p.=,ENST00000395963,NM_006641.3;CCR9,synonymous_variant,p.=,ENST00000355983,;LZTFL1,intron_variant,,ENST00000536047,NM_001276378.1;LZTFL1,intron_variant,,ENST00000539217,NM_001276379.1;Y_RNA,upstream_gene_variant,,ENST00000364765,;LZTFL1,intron_variant,,ENST00000483279,;LZTFL1,intron_variant,,ENST00000472635,;LZTFL1,intron_variant,,ENST00000492333,;LZTFL1,intron_variant,,ENST00000418700,;LZTFL1,intron_variant,,ENST00000448111,;	uc003coz.1	c.141G>A	321/2567	2	2			c.141G>A						3	SNP	c.(139-141)GCG>GCA	22	22			ovary(2)|breast(1)	3	Broad	chemokine (C-C motif) receptor 9 isoform A			45942421		0.468	ENSG00000173585	2892	g.chr3:45942421G>A	cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane								259.053841	KEEP	71	49	-1	73	90	71	49	-1	259.130474	73	90	0.477011	1	0	0	0	0	0	0	1	0	--	--		0	A			LZTFL1_uc003coy.1_Intron|LZTFL1_uc011bak.1_Intron|CCR9_uc010hiv.1_Silent_p.A35A|CCR9_uc003cpa.1_Silent_p.A35A	228	GBM-32-1970-TP	p.A47A	G	GGCAGTTTGCGAGCCATTTCC	NM_031200	NP_112477	45942421	P51686	CCR9_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)	3	298	+	A	A			Silent	47			Extracellular (Potential).			
CCSER1	0	broad.mit.edu	GRCh37	4	91230163	91230163	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-12-3649-01	TCGA-12-3649-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000509176.1:c.728A>T	p.Gln243Leu	p.Q243L	ENST00000509176	NM_001145065.1	243	cAa/cTa	0			1			T	Q/L	uc003hsv.3	protein_coding	YES	CCDS47099.1			728/2703									large_intestine(1)|ovary(1)	2	c.(727-729)CAA>CTA			hmmpanther:PTHR22461,hmmpanther:PTHR22461:SF1	KIAA1680 protein isoform 1				ENSP00000425040		11-Feb									COSM3409621,COSM3409620,COSM3409619	11-Feb	.		ENST00000509176	Transcript						ENSG00000184305	g.chr4:91230163A>T	29349			MODERATE		1.525	low	getma.org/?cm=msa&ty=f&p=F190A_HUMAN&rb=1&re=729&var=Q243L	NA	getma.org/?cm=var&var=hg19,4,91230163,A,T&fts=all	Q243L	--	--	1																																		FAM190A_uc003hsu.3_Missense_Mutation_p.Q243L|FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.Q243L	1,1,1	1		benign(0.145)	p.Q243L	NM_001145065	NP_001138537		deleterious(0)	1,1,1	CCSE1_HUMAN	CCSER1	HGNC	Q9C0I3	F190A_HUMAN					2	1068	+			UPI00005A6104	243					SNV	CCSER1,missense_variant,p.Gln243Leu,ENST00000509176,NM_001145065.1;CCSER1,missense_variant,p.Gln243Leu,ENST00000432775,NM_207491.2;CCSER1,missense_variant,p.Gln243Leu,ENST00000333691,;CCSER1,missense_variant,p.Gln243Leu,ENST00000505073,;CCSER1,upstream_gene_variant,,ENST00000508550,;CCSER1,upstream_gene_variant,,ENST00000508086,;CCSER1,upstream_gene_variant,,ENST00000514352,;	uc003hsv.3	c.728A>T	1016/5847	1	1			c.728A>T						4	SNP	c.(727-729)CAA>CTA	11	11			large_intestine(1)|ovary(1)	2	Broad	KIAA1680 protein isoform 1			91230163		0.418	ENSG00000184305	5430	g.chr4:91230163A>T										164.600425	KEEP	25	27	-1	39	47	25	27	-1	166.560063	39	47	0.372263	1	0	0	0	0	1	0	0	0	--	--		0	T			FAM190A_uc003hsu.3_Missense_Mutation_p.Q243L|FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.Q243L	125	GBM-12-3649-TP	p.Q243L	A	AGCTCTTTACAATCTCCTTTG	NM_001145065	NP_001138537	91230163	Q9C0I3	F190A_HUMAN	0			2	1068	+	T	T			Missense_Mutation	243						
CCT2	10576	broad.mit.edu	GRCh37	12	69987309	69987309	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01	TCGA-06-2565-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299300.6:c.898C>T	p.Pro300Ser	p.P300S	ENST00000299300	NM_006431.2	300	Cct/Tct	0			1			T	P/S	uc001svb.1	protein_coding	YES	CCDS8991.1			898/1608									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(898-900)CCT>TCT			hmmpanther:PTHR11353,TIGRFAM_domain:TIGR02341,Pfam_domain:PF00118,Gene3D:3.50.7.10,Superfamily_domains:SSF52029	chaperonin containing TCP1, subunit 2				ENSP00000299300		16-Oct									COSM459382	16-Oct	.		ENST00000299300	Transcript			'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	ENSG00000166226	g.chr12:69987309C>T	1615			MODERATE		1.83	low	getma.org/?cm=msa&ty=f&p=TCPB_HUMAN&rb=35&re=525&var=P300S	getma.org/pdb.php?prot=TCPB_HUMAN&from=35&to=525&var=P300S	getma.org/?cm=var&var=hg19,12,69987309,C,T&fts=all	P300S	--	--	1																																		CCT2_uc009zrm.1_RNA|CCT2_uc009zrn.1_Missense_Mutation_p.P300S|CCT2_uc010stl.1_Missense_Mutation_p.P253S	1	1		probably_damaging(0.997)	p.P300S	NM_006431	NP_006422		deleterious(0)	1	TCPB_HUMAN	CCT2	HGNC	P78371	TCPB_HUMAN	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		Q9H369_HUMAN		10	992	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		UPI0000136AF3	300					SNV	CCT2,missense_variant,p.Pro253Ser,ENST00000543146,NM_001198842.1;CCT2,missense_variant,p.Pro300Ser,ENST00000299300,NM_006431.2;CCT2,missense_variant,p.Pro300Ser,ENST00000544368,;CCT2,missense_variant,p.Pro300Ser,ENST00000550010,;CCT2,non_coding_transcript_exon_variant,,ENST00000548787,;CCT2,non_coding_transcript_exon_variant,,ENST00000553169,;CCT2,downstream_gene_variant,,ENST00000551620,;CCT2,downstream_gene_variant,,ENST00000546850,;	uc001svb.1	c.898C>T	1086/2041	2	2			c.898C>T						12	SNP	c.(898-900)CCT>TCT	48	48			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	chaperonin containing TCP1, subunit 2			69987309		0.264	ENSG00000166226	2897	g.chr12:69987309C>T	'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding							-17.370095	KEEP	3	3	-1	87	55	3	3	-1	12.60982	87	55	0.044444	1	0	0	0	0	1	0	0	0	--	--		0	T			CCT2_uc009zrm.1_RNA|CCT2_uc009zrn.1_Missense_Mutation_p.P300S|CCT2_uc010stl.1_Missense_Mutation_p.P253S	88	GBM-06-2565-TP	p.P300S	C	TTATAATTATCCTGAACAGCT	NM_006431	NP_006422	69987309	P78371	TCPB_HUMAN	0	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		10	992	+	T	T	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Missense_Mutation	300						
CCT2	0	broad.mit.edu	GRCh37	12	69985894	69985894	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-12-5295-01	TCGA-12-5295-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299300.6:c.705T>G	p.Ala235=	p.A235=	ENST00000299300	NM_006431.2	235	gcT/gcG	0			1			G	A	uc001svb.1	protein_coding	YES	CCDS8991.1			705/1608									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(703-705)GCT>GCG			hmmpanther:PTHR11353,TIGRFAM_domain:TIGR02341,Pfam_domain:PF00118,Gene3D:3.50.7.10,Superfamily_domains:SSF52029	chaperonin containing TCP1, subunit 2				ENSP00000299300		16-Aug									COSM3399044	16-Aug	.		ENST00000299300	Transcript			'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	ENSG00000166226	g.chr12:69985894T>G	1615			LOW								--	--	1																																		CCT2_uc009zrm.1_RNA|CCT2_uc009zrn.1_Silent_p.A235A|CCT2_uc010stl.1_Silent_p.A188A	1	1			p.A235A	NM_006431	NP_006422			1	TCPB_HUMAN	CCT2	HGNC	P78371	TCPB_HUMAN	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		Q9H369_HUMAN		8	799	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		UPI0000136AF3	235					SNV	CCT2,synonymous_variant,p.=,ENST00000543146,NM_001198842.1;CCT2,synonymous_variant,p.=,ENST00000299300,NM_006431.2;CCT2,synonymous_variant,p.=,ENST00000544368,;CCT2,synonymous_variant,p.=,ENST00000550010,;CCT2,non_coding_transcript_exon_variant,,ENST00000548787,;CCT2,non_coding_transcript_exon_variant,,ENST00000546850,;CCT2,downstream_gene_variant,,ENST00000551620,;CCT2,upstream_gene_variant,,ENST00000553169,;CCT2,downstream_gene_variant,,ENST00000550638,;CCT2,downstream_gene_variant,,ENST00000546859,;CCT2,downstream_gene_variant,,ENST00000549933,;CCT2,downstream_gene_variant,,ENST00000550455,;	uc001svb.1	c.705T>G	893/2041	3	3			c.705T>G						12	SNP	c.(703-705)GCT>GCG	56	56			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	chaperonin containing TCP1, subunit 2			69985894		0.239	ENSG00000166226	2897	g.chr12:69985894T>G	'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding							200.818037	KEEP	38	29	-1	48	68	38	29	-1	202.335339	48	68	0.394904	1	0	0	0	0	0	0	1	0	--	--		0	G			CCT2_uc009zrm.1_RNA|CCT2_uc009zrn.1_Silent_p.A235A|CCT2_uc010stl.1_Silent_p.A188A	129	GBM-12-5295-TP	p.A235A	T	TTGAAAATGCTAAAATTCTTA	NM_006431	NP_006422	69985894	P78371	TCPB_HUMAN	0	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		8	799	+	G	G	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Silent	235						
CCT6A	0	broad.mit.edu	GRCh37	7	56127280	56127280	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01	TCGA-74-6573-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275603.4:c.1012G>A	p.Asp338Asn	p.D338N	ENST00000275603	NM_001762.3	338	Gac/Aac	0			1			A	D/N	uc003trl.1	protein_coding	YES	CCDS5523.1			1012/1596									upper_aerodigestive_tract(1)	1	c.(1012-1014)GAC>AAC			Superfamily_domains:SSF52029,Gene3D:3.50.7.10,TIGRFAM_domain:TIGR02347,Pfam_domain:PF00118,hmmpanther:PTHR11353:SF54,hmmpanther:PTHR11353	chaperonin containing TCP1, subunit 6A isoform				ENSP00000275603		14-Sep									COSM3412212	14-Sep	.		ENST00000275603	Transcript			'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding	ENSG00000146731	g.chr7:56127280G>A	1620			MODERATE		2.78	medium	getma.org/?cm=msa&ty=f&p=TCPZ_HUMAN&rb=30&re=525&var=D338N	getma.org/pdb.php?prot=TCPZ_HUMAN&from=30&to=525&var=D338N	getma.org/?cm=var&var=hg19,7,56127280,G,A&fts=all	D338N	--	--	1																																		PSPH_uc003trj.2_Intron|CCT6A_uc003trm.1_Missense_Mutation_p.D293N|CCT6A_uc011kcu.1_Missense_Mutation_p.D307N|SNORA15_uc003trn.1_5'Flank	1	1		benign(0.27)	p.D338N	NM_001762	NP_001753		tolerated(0.13)	1	TCPZ_HUMAN	CCT6A	HGNC	P40227	TCPZ_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)				9	1176	+	Breast(14;0.214)		UPI0000136B11	338					SNV	CCT6A,missense_variant,p.Asp338Asn,ENST00000275603,NM_001762.3;CCT6A,missense_variant,p.Asp293Asn,ENST00000335503,NM_001009186.1;CCT6A,missense_variant,p.Asp307Asn,ENST00000540286,;SUMF2,upstream_gene_variant,,ENST00000434526,NM_015411.2,NM_001042469.1;SUMF2,upstream_gene_variant,,ENST00000275607,NM_001146333.1;SUMF2,upstream_gene_variant,,ENST00000342190,NM_001130069.2;SUMF2,upstream_gene_variant,,ENST00000395436,;SUMF2,upstream_gene_variant,,ENST00000395435,NM_001042470.1;SUMF2,upstream_gene_variant,,ENST00000413756,;SUMF2,upstream_gene_variant,,ENST00000437307,;SUMF2,upstream_gene_variant,,ENST00000451338,;SUMF2,upstream_gene_variant,,ENST00000413952,;SNORA22,downstream_gene_variant,,ENST00000383876,;SNORA15,upstream_gene_variant,,ENST00000384439,NR_002957.1;CCT6A,upstream_gene_variant,,ENST00000462133,;CCT6A,non_coding_transcript_exon_variant,,ENST00000492618,;SUMF2,upstream_gene_variant,,ENST00000423763,;SUMF2,upstream_gene_variant,,ENST00000438133,;SUMF2,upstream_gene_variant,,ENST00000436782,;SUMF2,upstream_gene_variant,,ENST00000447501,;SUMF2,upstream_gene_variant,,ENST00000483327,;SUMF2,upstream_gene_variant,,ENST00000452216,;CCT6A,downstream_gene_variant,,ENST00000482776,;CCT6A,upstream_gene_variant,,ENST00000466479,;CCT6A,upstream_gene_variant,,ENST00000466572,;SUMF2,upstream_gene_variant,,ENST00000498777,;SUMF2,upstream_gene_variant,,ENST00000529457,;CCT6A,upstream_gene_variant,,ENST00000494736,;CCT6A,downstream_gene_variant,,ENST00000493855,;	uc003trl.1	c.1012G>A	1231/2719	2	2			c.1012G>A						7	SNP	c.(1012-1014)GAC>AAC	47	47			upper_aerodigestive_tract(1)	1	Broad	chaperonin containing TCP1, subunit 6A isoform			56127280		0.398	ENSG00000146731	2901	g.chr7:56127280G>A	'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding							-208.500705	KEEP	7	1	-1	451	481	7	1	-1	8.55679	451	481	0.008986	1	0	0	0	0	1	0	0	0	--	--		0	A			PSPH_uc003trj.2_Intron|CCT6A_uc003trm.1_Missense_Mutation_p.D293N|CCT6A_uc011kcu.1_Missense_Mutation_p.D307N|SNORA15_uc003trn.1_5'Flank	260	GBM-74-6573-TP	p.D338N	G	TTCTTTTGACGACCTAAGTCC	NM_001762	NP_001753	56127280	P40227	TCPZ_HUMAN	0	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		9	1176	+	A	A	Breast(14;0.214)		Missense_Mutation	338						
CCT8L2	150160	broad.mit.edu	GRCh37	22	17073274	17073274	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359963.3:c.167G>A	p.Arg56Gln	p.R56Q	ENST00000359963	NM_014406.4	56	cGg/cAg	0		T:0	1	T:0		T	R/Q	uc002zlp.1	protein_coding	YES	CCDS13738.1			167/1674									ovary(1)	1	c.(166-168)CGG>CAG			Prints_domain:PR00304,Superfamily_domains:SSF48592,Pfam_domain:PF00118,Gene3D:1.10.560.10,hmmpanther:PTHR11353:SF70,hmmpanther:PTHR11353	T-complex protein 1		T:0.002		ENSP00000353048	T:0	1-Jan	0.000156			0.00208		1.50E-05			rs567911712,COSM2151843	1-Jan	common_variant		ENST00000359963	Transcript		T:0.0004	cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	ENSG00000198445	g.chr22:17073274C>T	15553			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=TCPQL_HUMAN&rb=43&re=525&var=R56Q	getma.org/pdb.php?prot=TCPQL_HUMAN&from=43&to=525&var=R56Q	getma.org/?cm=var&var=hg19,22,17073274,C,T&fts=all	R56Q	--	--	1																																			0,1	1		probably_damaging(0.967)	p.R56Q	NM_014406	NP_055221	T:0	tolerated(0.09)	0,1	TCPQM_HUMAN	CCT8L2	HGNC	Q96SF2	TCPQM_HUMAN					1	427	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	UPI000006CF87	56					SNV	CCT8L2,missense_variant,p.Arg56Gln,ENST00000359963,NM_014406.4;FABP5P11,downstream_gene_variant,,ENST00000430910,;	uc002zlp.1	c.167G>A	427/2034	2	2			c.167G>A						22	SNP	c.(166-168)CGG>CAG	29	29			ovary(1)	1	Broad	T-complex protein 1			17073274		0.642	ENSG00000198445	2905	g.chr22:17073274C>T	cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity							213.165306	KEEP	38	42	-1	69	44	38	42	-1	213.996403	69	44	0.423313	1	0	0	0	0	1	0	0	0	--	--		0	T				68	GBM-06-0747-TP	p.R56Q	C	GAACTTCTGCCGGCCGTGGGG	NM_014406	NP_055221	17073274	Q96SF2	TCPQM_HUMAN	0			1	427	-	T	T	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	Missense_Mutation	56						
CCT8L2	150160	broad.mit.edu	GRCh37	22	17072541	17072541	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0939-01	TCGA-06-0939-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359963.3:c.900C>T	p.Asp300=	p.D300=	ENST00000359963	NM_014406.4	300	gaC/gaT	0			1			A	D	uc002zlp.1	protein_coding	YES	CCDS13738.1			900/1674									ovary(1)	1	c.(898-900)GAC>GAT			Superfamily_domains:SSF52029,Pfam_domain:PF00118,Gene3D:3.50.7.10,hmmpanther:PTHR11353:SF70,hmmpanther:PTHR11353	T-complex protein 1				ENSP00000353048		1-Jan	8.24E-05		0.000864						rs772533950,COSM1534811	1-Jan	common_variant		ENST00000359963	Transcript			cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	ENSG00000198445	g.chr22:17072541G>A	15553			LOW								--	--	1																																			0,1	1			p.D300D	NM_014406	NP_055221			0,1	TCPQM_HUMAN	CCT8L2	HGNC	Q96SF2	TCPQM_HUMAN					1	1160	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	UPI000006CF87	300					SNV	CCT8L2,synonymous_variant,p.=,ENST00000359963,NM_014406.4;FABP5P11,downstream_gene_variant,,ENST00000430910,;	uc002zlp.1	c.900C>T	1160/2034	2	2			c.900C>T						22	SNP	c.(898-900)GAC>GAT	20	20			ovary(1)	1	Broad	T-complex protein 1			17072541		0.493	ENSG00000198445	2905	g.chr22:17072541G>A	cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity							286.056008	KEEP	51	75	-1	101	120	51	75	-1	288.73313	101	120	0.390625	1	0	0	0	0	0	0	1	0	--	--		0	A				78	GBM-06-0939-TP	p.D300D	G	GGGTCTCCTCGTCGACCTCCC	NM_014406	NP_055221	17072541	Q96SF2	TCPQM_HUMAN	0			1	1160	-	A	A	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	Silent	300						
CCT8L2	0	broad.mit.edu	GRCh37	22	17072504	17072504	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01	TCGA-41-2572-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359963.3:c.937G>A	p.Val313Met	p.V313M	ENST00000359963	NM_014406.4	313	Gtg/Atg	0			1			T	V/M	uc002zlp.1	protein_coding	YES	CCDS13738.1			937/1674									ovary(1)	1	c.(937-939)GTG>ATG			Superfamily_domains:SSF52029,Pfam_domain:PF00118,Gene3D:3.50.7.10,hmmpanther:PTHR11353:SF70,hmmpanther:PTHR11353	T-complex protein 1				ENSP00000353048		1-Jan	4.12E-05					3.00E-05		0.000182	rs747115852,COSM181602	1-Jan	.		ENST00000359963	Transcript			cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	ENSG00000198445	g.chr22:17072504C>T	15553			MODERATE		-2.07	neutral	getma.org/?cm=msa&ty=f&p=TCPQL_HUMAN&rb=43&re=525&var=V313M	getma.org/pdb.php?prot=TCPQL_HUMAN&from=43&to=525&var=V313M	getma.org/?cm=var&var=hg19,22,17072504,C,T&fts=all	V313M	--	--	1																																			0,1	1		benign(0.002)	p.V313M	NM_014406	NP_055221		tolerated(1)	0,1	TCPQM_HUMAN	CCT8L2	HGNC	Q96SF2	TCPQM_HUMAN					1	1197	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	UPI000006CF87	313					SNV	CCT8L2,missense_variant,p.Val313Met,ENST00000359963,NM_014406.4;FABP5P11,downstream_gene_variant,,ENST00000430910,;	uc002zlp.1	c.937G>A	1197/2034	2	2			c.937G>A						22	SNP	c.(937-939)GTG>ATG	26	26			ovary(1)	1	Broad	T-complex protein 1			17072504		0.557	ENSG00000198445	2905	g.chr22:17072504C>T	cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity							397.253821	KEEP	83	79	-1	148	127	83	79	-1	401.547226	148	127	0.384824	1	0	0	0	0	1	0	0	0	--	--		0	T				251	GBM-41-2572-TP	p.V313M	C	TGAATCACCACGATGCCATAC	NM_014406	NP_055221	17072504	Q96SF2	TCPQM_HUMAN	0			1	1197	-	T	T	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	Missense_Mutation	313						
CCT8L2	150160		GRCh37	22	17072055	17072055	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000359963.3:c.1386C>T	p.Asp462=	p.D462=	ENST00000359963	NM_014406.4	462	gaC/gaT	0																																																																																																																																																																																																																																												
CCZ1	0	broad.mit.edu	GRCh37	7	5959509	5959509	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-19-2624-01	TCGA-19-2624-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325974.6:c.1018C>T	p.Arg340Ter	p.R340*	ENST00000325974	NM_015622.5	340	Cga/Tga	0			1			T	R/*	uc003spf.2	protein_coding	YES	CCDS34597.1			1018/1449										0	c.(1018-1020)CGA>TGA			Pfam_domain:PF08217,hmmpanther:PTHR13056	hypothetical protein LOC51622				ENSP00000325681		15-Dec	8.24E-06					1.52E-05			rs774988588,COSM3412217	15-Dec	.		ENST00000325974	Transcript				lysosomal membrane		ENSG00000122674	g.chr7:5959509C>T	21691			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,5959509,C,T&fts=all	R340*	--	--	1																																			0,1	1			p.R340*	NM_015622	NP_056437			0,1	CCZ1_HUMAN	CCZ1	HGNC	P86791	CCZ1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)|OV - Ovarian serous cystadenocarcinoma(56;7.91e-15)	Q7L8P3_HUMAN,F5H553_HUMAN		12	1108	+		Ovarian(82;0.0694)	UPI000006CEFF	340					SNV	CCZ1,stop_gained,p.Arg340Ter,ENST00000325974,NM_015622.5;CCZ1,stop_gained,p.Arg197Ter,ENST00000537980,;CCZ1,upstream_gene_variant,,ENST00000496860,;CCZ1,non_coding_transcript_exon_variant,,ENST00000474507,;	uc003spf.2	c.1018C>T	1084/1802	5	1			c.1018C>T						7	SNP	c.(1018-1020)CGA>TGA	11	11				0	Broad	hypothetical protein LOC51622			5959509		0.468	ENSG00000122674	2334	g.chr7:5959509C>T		lysosomal membrane								109.267704	KEEP	34	34	-1	182	181	34	34	-1	133.456271	182	181	0.182879	1	0	0	0	0	0	1	0	0	--	--		0	T				164	GBM-19-2624-TP	p.R340*	C	GGATTTTTGCCGAAGACTGGA	NM_015622	NP_056437	5959509	P86791	CCZ1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)|OV - Ovarian serous cystadenocarcinoma(56;7.91e-15)	12	1108	+	T	T		Ovarian(82;0.0694)	Nonsense_Mutation	340						
CD101	9398	broad.mit.edu	GRCh37	1	117552817	117552817	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-02-0047-01	TCGA-02-0047-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256652.4:c.389A>T	p.Tyr130Phe	p.Y130F	ENST00000256652	NM_004258.5	130	tAc/tTc	0			1			T	Y/F	uc010oxb.1	protein_coding	YES	CCDS891.1			389/3066									skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4	c.(388-390)TAC>TTC			Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF20,SMART_domains:SM00409	immunoglobulin superfamily, member 2 precursor				ENSP00000256652		10-Feb									COSM2149023	10-Feb	.		ENST00000256652	Transcript			cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	ENSG00000134256	g.chr1:117552817A>T	5949			MODERATE		1.86	low	getma.org/?cm=msa&ty=f&p=IGSF2_HUMAN&rb=21&re=142&var=Y130F	NA	getma.org/?cm=var&var=hg19,1,117552817,A,T&fts=all	Y130F	--	--	1																																		CD101_uc009whd.2_Missense_Mutation_p.Y130F|CD101_uc010oxc.1_Missense_Mutation_p.Y130F|CD101_uc010oxd.1_Missense_Mutation_p.Y130F	1	1		possibly_damaging(0.651)	p.Y130F	NM_004258	NP_004249		tolerated(0.08)	1	IGSF2_HUMAN	CD101	HGNC	Q93033	IGSF2_HUMAN					2	447	+			UPI000013CF1F	130			Extracellular (Potential).|Ig-like C2-type 1.		SNV	CD101,missense_variant,p.Tyr130Phe,ENST00000256652,NM_004258.5,NM_001256106.2,NM_001256109.2,NM_001256111.2;CD101,missense_variant,p.Tyr130Phe,ENST00000369470,;	uc010oxb.1	c.389A>T	447/3547	1	1			c.389A>T						1	SNP	c.(388-390)TAC>TTC	5	5			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4	Broad	immunoglobulin superfamily, member 2 precursor			117552817		0.463	ENSG00000134256	2906	g.chr1:117552817A>T	cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides							47.088876	KEEP	12	11	-1	38	31	12	11	-1	52.306088	38	31	0.234568	1	0	0	0	0	1	0	0	0	--	--		0	T			CD101_uc009whd.2_Missense_Mutation_p.Y130F|CD101_uc010oxc.1_Missense_Mutation_p.Y130F|CD101_uc010oxd.1_Missense_Mutation_p.Y130F	3	GBM-02-0047-TP	p.Y130F	A	GATGAGAAATACTATGGAAGT	NM_004258	NP_004249	117552817	Q93033	IGSF2_HUMAN	0			2	447	+	T	T			Missense_Mutation	130			Extracellular (Potential).|Ig-like C2-type 1.			
CD101	9398	broad.mit.edu	GRCh37	1	117552685	117552685	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01	TCGA-06-2558-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256652.4:c.257C>T	p.Thr86Met	p.T86M	ENST00000256652	NM_004258.5	86	aCg/aTg	0			1			T	T/M	uc010oxb.1	protein_coding	YES	CCDS891.1			257/3066									skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4	c.(256-258)ACG>ATG			Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF20,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726	immunoglobulin superfamily, member 2 precursor				ENSP00000256652		10-Feb	8.24E-06					1.50E-05			rs529866838,COSM2152650	10-Feb	.		ENST00000256652	Transcript			cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	ENSG00000134256	g.chr1:117552685C>T	5949			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=IGSF2_HUMAN&rb=21&re=142&var=T86M	getma.org/pdb.php?prot=IGSF2_HUMAN&from=21&to=142&var=T86M	getma.org/?cm=var&var=hg19,1,117552685,C,T&fts=all	T86M	--	--	1																																		CD101_uc009whd.2_Missense_Mutation_p.T86M|CD101_uc010oxc.1_Missense_Mutation_p.T86M|CD101_uc010oxd.1_Missense_Mutation_p.T86M	0,1	1		benign(0.104)	p.T86M	NM_004258	NP_004249		deleterious(0)	0,1	IGSF2_HUMAN	CD101	HGNC	Q93033	IGSF2_HUMAN					2	315	+			UPI000013CF1F	86			Extracellular (Potential).|Ig-like C2-type 1.		SNV	CD101,missense_variant,p.Thr86Met,ENST00000256652,NM_004258.5,NM_001256106.2,NM_001256109.2,NM_001256111.2;CD101,missense_variant,p.Thr86Met,ENST00000369470,;	uc010oxb.1	c.257C>T	315/3547	1	1			c.257C>T						1	SNP	c.(256-258)ACG>ATG	4	4			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4	Broad	immunoglobulin superfamily, member 2 precursor			117552685		0.532	ENSG00000134256	2906	g.chr1:117552685C>T	cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides							193.180825	KEEP	29	39	-1	54	45	29	39	-1	194.184512	54	45	0.414013	1	0	0	0	0	1	0	0	0	--	--		0	T			CD101_uc009whd.2_Missense_Mutation_p.T86M|CD101_uc010oxc.1_Missense_Mutation_p.T86M|CD101_uc010oxd.1_Missense_Mutation_p.T86M	82	GBM-06-2558-TP	p.T86M	C	GCAGTATATACGCAGCGGGTG	NM_004258	NP_004249	117552685	Q93033	IGSF2_HUMAN	0			2	315	+	T	T			Missense_Mutation	86			Extracellular (Potential).|Ig-like C2-type 1.			
CD109	0	broad.mit.edu	GRCh37	6	74475666	74475666	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01	TCGA-12-0692-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000287097.5:c.1121G>A	p.Arg374His	p.R374H	ENST00000287097		374	cGt/cAt	0			1			A	R/H	uc003php.2	protein_coding	YES	CCDS4982.1			1121/4338									large_intestine(2)|ovary(2)	4	c.(1120-1122)CGT>CAT			hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF29	CD109 antigen isoform 1 precursor				ENSP00000287097		Nov-33									COSM2154297	Nov-33	.		ENST00000287097	Transcript	1			anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	ENSG00000156535	g.chr6:74475666G>A	21685			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=CD109_HUMAN&rb=222&re=421&var=R374H	getma.org/pdb.php?prot=CD109_HUMAN&from=222&to=421&var=R374H	getma.org/?cm=var&var=hg19,6,74475666,G,A&fts=all	R374H	--	--	1																																		CD109_uc010kaz.2_Missense_Mutation_p.R374H|CD109_uc003phq.2_Missense_Mutation_p.R374H|CD109_uc010kba.2_Missense_Mutation_p.R297H	1	1		benign(0.022)	p.R374H	NM_133493	NP_598000		tolerated(0.08)	1	CD109_HUMAN	CD109	HGNC	Q6YHK3	CD109_HUMAN			Q5XUN1_HUMAN,Q5XUM8_HUMAN,Q5XUM6_HUMAN,F1C639_HUMAN		11	1546	+			UPI000013DE92	374					SNV	CD109,missense_variant,p.Arg374His,ENST00000437994,NM_133493.3,NM_001159587.1;CD109,missense_variant,p.Arg297His,ENST00000422508,NM_001159588.1;CD109,missense_variant,p.Arg374His,ENST00000287097,;	uc003php.2	c.1121G>A	1233/9130	1	1			c.1121G>A						6	SNP	c.(1120-1122)CGT>CAT	53	53			large_intestine(2)|ovary(2)	4	Broad	CD109 antigen isoform 1 precursor			74475666		0.358	ENSG00000156535	2907	g.chr6:74475666G>A		anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity							97.947424	KEEP	20	10	-1	24	11	20	10	-1	97.978398	24	11	0.47619	1	0	0	0	0	1	0	0	0	--	--		0	A			CD109_uc010kaz.2_Missense_Mutation_p.R374H|CD109_uc003phq.2_Missense_Mutation_p.R374H|CD109_uc010kba.2_Missense_Mutation_p.R297H	122	GBM-12-0692-TP	p.R374H	G	AAGGTAACTCGTGCTGATGGC	NM_133493	NP_598000	74475666	Q6YHK3	CD109_HUMAN	0			11	1546	+	A	A			Missense_Mutation	374						
CD14	0	broad.mit.edu	GRCh37	5	140011717	140011717	+	synonymous_variant	Silent	SNP	C	C	T	rs150900616		TCGA-12-0821-01	TCGA-12-0821-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302014.6:c.852G>A	p.Ser284=	p.S284=	ENST00000302014	NM_000591.3	284	tcG/tcA	0			1			T	S	uc003lgi.1	protein_coding	YES	CCDS4232.1			852/1128										0	c.(850-852)TCG>TCA			Low_complexity_(Seg):seg,Superfamily_domains:SSF52058,PIRSF_domain:PIRSF002017,Gene3D:3.80.10.10,hmmpanther:PTHR10630,hmmpanther:PTHR10630:SF2	CD14 antigen precursor				ENSP00000304236		2-Feb									COSM3409780	2-Feb	.		ENST00000302014	Transcript			apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity	ENSG00000170458	g.chr5:140011717C>T	1628			LOW								--	--	1																																		CD14_uc003lgj.1_Silent_p.S284S	1	1			p.S284S	NM_000591	NP_000582			1	CD14_HUMAN	CD14	HGNC	P08571	CD14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		E7EVL5_HUMAN,D6RFL4_HUMAN,D6RD81_HUMAN		2	1206	-			UPI000004A918	284			LRR 9.		SNV	CD14,synonymous_variant,p.=,ENST00000302014,NM_000591.3;CD14,synonymous_variant,p.=,ENST00000401743,NM_001174105.1,NM_001040021.2,NM_001174104.1;CD14,downstream_gene_variant,,ENST00000498971,;CD14,downstream_gene_variant,,ENST00000512545,;CD14,downstream_gene_variant,,ENST00000519715,;	uc003lgi.1	c.852G>A	1482/1886	1	1			c.852G>A						5	SNP	c.(850-852)TCG>TCA	16	16				0	Broad	CD14 antigen precursor			140011717		0.617	ENSG00000170458	2908	g.chr5:140011717C>T	apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity							129.237488	KEEP	36	19	-1	116	59	36	19	-1	140.125251	116	59	0.255	1	0	0	0	0	0	0	1	0	--	--		0	T			CD14_uc003lgj.1_Silent_p.S284S	123	GBM-12-0821-TP	p.S284S	C	GCCCAGCGAACGACAGATTGA	NM_000591	NP_000582	140011717	P08571	CD14_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	1206	-	T	T			Silent	284			LRR 9.			
CD14	0	broad.mit.edu	GRCh37	5	140012230	140012230	+	synonymous_variant	Silent	SNP	T	T	A			TCGA-41-3392-01	TCGA-41-3392-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302014.6:c.339A>T	p.Leu113=	p.L113=	ENST00000302014	NM_000591.3	113	ctA/ctT	0			1			A	L	uc003lgi.1	protein_coding	YES	CCDS4232.1			339/1128										0	c.(337-339)CTA>CTT			PIRSF_domain:PIRSF002017,hmmpanther:PTHR10630,hmmpanther:PTHR10630:SF2	CD14 antigen precursor				ENSP00000304236		2-Feb									COSM3409781	2-Feb	.		ENST00000302014	Transcript			apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity	ENSG00000170458	g.chr5:140012230T>A	1628			LOW								--	--	1																																		CD14_uc003lgj.1_Silent_p.L113L	1	1			p.L113L	NM_000591	NP_000582			1	CD14_HUMAN	CD14	HGNC	P08571	CD14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		E7EVL5_HUMAN,D6RFL4_HUMAN,D6RD81_HUMAN		2	693	-			UPI000004A918	113			LRR 2.		SNV	CD14,synonymous_variant,p.=,ENST00000302014,NM_000591.3;CD14,synonymous_variant,p.=,ENST00000401743,NM_001174105.1,NM_001040021.2,NM_001174104.1;CD14,synonymous_variant,p.=,ENST00000498971,;CD14,downstream_gene_variant,,ENST00000512545,;CD14,downstream_gene_variant,,ENST00000519715,;	uc003lgi.1	c.339A>T	969/1886	1	1			c.339A>T						5	SNP	c.(337-339)CTA>CTT	51	51				0	Broad	CD14 antigen precursor			140012230		0.622	ENSG00000170458	2908	g.chr5:140012230T>A	apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity							67.963267	KEEP	13	15	-1	18	29	13	15	-1	68.907984	18	29	0.373134	1	0	0	0	0	0	0	1	0	--	--		0	A			CD14_uc003lgj.1_Silent_p.L113L	254	GBM-41-3392-TP	p.L113L	T	GGGAGTACGCTAGCACACGCA	NM_000591	NP_000582	140012230	P08571	CD14_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	693	-	A	A			Silent	113			LRR 2.			
CD163	9332	broad.mit.edu	GRCh37	12	7636017	7636017	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2558-01	TCGA-06-2558-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359156.4:c.3034C>T	p.Arg1012Cys	p.R1012C	ENST00000359156	NM_004244.5	1012	Cgc/Tgc	0			1			A	R/C	uc001qsz.3	protein_coding	YES	CCDS8578.1			3034/3471									ovary(6)|pancreas(1)|skin(1)	8	c.(3034-3036)CGC>TGC			PROSITE_profiles:PS50287,hmmpanther:PTHR19331:SF268,hmmpanther:PTHR19331,Pfam_domain:PF00530,Gene3D:3.10.250.10,SMART_domains:SM00202,Superfamily_domains:SSF56487	CD163 antigen isoform a				ENSP00000352071		17-Dec	2.47E-05			0.000116	0.000153	1.50E-05			rs752858863,COSM2152636,COSM2152637	17-Dec	.		ENST00000359156	Transcript			acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	ENSG00000177575	g.chr12:7636017G>A	1631			MODERATE		1.895	low	getma.org/?cm=msa&ty=f&p=C163A_HUMAN&rb=932&re=1029&var=R1012C	getma.org/pdb.php?prot=C163A_HUMAN&from=932&to=1029&var=R1012C	getma.org/?cm=var&var=hg19,12,7636017,G,A&fts=all	R1012C	--	--	1																																		CD163_uc001qta.3_Missense_Mutation_p.R1012C|CD163_uc009zfw.2_Missense_Mutation_p.R1045C	0,1,1	1		possibly_damaging(0.738)	p.R1012C	NM_004244	NP_004235		deleterious(0)	0,1,1	C163A_HUMAN	CD163	HGNC	Q86VB7	C163A_HUMAN					12	3162	-			UPI00004565CC	1012			SRCR 9.|Extracellular (Potential).		SNV	CD163,missense_variant,p.Arg1012Cys,ENST00000359156,NM_004244.5;CD163,missense_variant,p.Arg1045Cys,ENST00000396620,;CD163,missense_variant,p.Arg1012Cys,ENST00000432237,NM_203416.3;CD163,missense_variant,p.Arg1000Cys,ENST00000541972,;CD163,missense_variant,p.Arg25Cys,ENST00000537626,;CD163,missense_variant,p.Arg52Cys,ENST00000542280,;CD163L1,upstream_gene_variant,,ENST00000543276,;CD163,non_coding_transcript_exon_variant,,ENST00000539632,;CD163,non_coding_transcript_exon_variant,,ENST00000537044,;CD163,non_coding_transcript_exon_variant,,ENST00000538840,;	uc001qsz.3	c.3034C>T	3237/4268	1	1			c.3034C>T						12	SNP	c.(3034-3036)CGC>TGC	52	52			ovary(6)|pancreas(1)|skin(1)	8	Broad	CD163 antigen isoform a			7636017		0.512	ENSG00000177575	2911	g.chr12:7636017G>A	acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity							122.451199	KEEP	19	25	-1	26	37	19	25	-1	122.958426	26	37	0.42268	1	0	0	0	0	1	0	0	0	--	--		0	A			CD163_uc001qta.3_Missense_Mutation_p.R1012C|CD163_uc009zfw.2_Missense_Mutation_p.R1045C	82	GBM-06-2558-TP	p.R1012C	G	TGGCCCCAGCGTCTGGCAGGA	NM_004244	NP_004235	7636017	Q86VB7	C163A_HUMAN	0			12	3162	-	A	A			Missense_Mutation	1012			SRCR 9.|Extracellular (Potential).			
CD163	9332	broad.mit.edu	GRCh37	12	7639374	7639374	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6391-01	TCGA-06-6391-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359156.4:c.2179C>T	p.Arg727Cys	p.R727C	ENST00000359156	NM_004244.5	727	Cgc/Tgc	0			1			A	R/C	uc001qsz.3	protein_coding	YES	CCDS8578.1			2179/3471									ovary(6)|pancreas(1)|skin(1)	8	c.(2179-2181)CGC>TGC			PROSITE_profiles:PS50287,hmmpanther:PTHR19331:SF268,hmmpanther:PTHR19331,PROSITE_patterns:PS00420,Pfam_domain:PF00530,Gene3D:3.10.250.10,SMART_domains:SM00202,Superfamily_domains:SSF56487,Prints_domain:PR00258	CD163 antigen isoform a				ENSP00000352071		17-Oct									rs747400028	17-Oct	.		ENST00000359156	Transcript			acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	ENSG00000177575	g.chr12:7639374G>A	1631			MODERATE		3.545	high	getma.org/?cm=msa&ty=f&p=C163A_HUMAN&rb=722&re=819&var=R727C	getma.org/pdb.php?prot=C163A_HUMAN&from=722&to=819&var=R727C	getma.org/?cm=var&var=hg19,12,7639374,G,A&fts=all	R727C	--	--	1																																		CD163_uc001qta.3_Missense_Mutation_p.R727C|CD163_uc009zfw.2_Missense_Mutation_p.R760C		1		probably_damaging(0.977)	p.R727C	NM_004244	NP_004235		deleterious(0.02)		C163A_HUMAN	CD163	HGNC	Q86VB7	C163A_HUMAN					10	2307	-			UPI00004565CC	727			SRCR 7.|Extracellular (Potential).		SNV	CD163,missense_variant,p.Arg727Cys,ENST00000359156,NM_004244.5;CD163,missense_variant,p.Arg760Cys,ENST00000396620,;CD163,missense_variant,p.Arg727Cys,ENST00000432237,NM_203416.3;CD163,missense_variant,p.Arg715Cys,ENST00000541972,;CD163,upstream_gene_variant,,ENST00000537626,;CD163,upstream_gene_variant,,ENST00000542280,;CD163,upstream_gene_variant,,ENST00000539632,;CD163,non_coding_transcript_exon_variant,,ENST00000537044,;CD163,upstream_gene_variant,,ENST00000538840,;	uc001qsz.3	c.2179C>T	2382/4268	2	2			c.2179C>T						12	SNP	c.(2179-2181)CGC>TGC	45	45			ovary(6)|pancreas(1)|skin(1)	8	Broad	CD163 antigen isoform a			7639374		0.458	ENSG00000177575	2911	g.chr12:7639374G>A	acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity							23.899472	KEEP	9	5	-1	42	49	9	5	-1	34.777089	42	49	0.150538	1	0	0	0	0	1	0	0	0	--	--		0	A			CD163_uc001qta.3_Missense_Mutation_p.R727C|CD163_uc009zfw.2_Missense_Mutation_p.R760C	107	GBM-06-6391-TP	p.R727C	G	CCAGCACAGCGACCTCCTCCA	NM_004244	NP_004235	7639374	Q86VB7	C163A_HUMAN	0			10	2307	-	A	A			Missense_Mutation	727			SRCR 7.|Extracellular (Potential).			
CD163	0	broad.mit.edu	GRCh37	12	7639557	7639557	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-1034-01	TCGA-14-1034-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359156.4:c.2076G>A	p.Ser692=	p.S692=	ENST00000359156	NM_004244.5	692	tcG/tcA	0	T:0.0002		1			T	S	uc001qsz.3	protein_coding	YES	CCDS8578.1			2076/3471									ovary(6)|pancreas(1)|skin(1)	8	c.(2074-2076)TCG>TCA			Low_complexity_(Seg):seg,hmmpanther:PTHR19331:SF268,hmmpanther:PTHR19331	CD163 antigen isoform a			T:0.0001	ENSP00000352071		17-Sep	3.29E-05	9.69E-05				4.51E-05			rs374794909,COSM2155255,COSM2155256	17-Sep	.		ENST00000359156	Transcript			acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	ENSG00000177575	g.chr12:7639557C>T	1631			LOW								--	--	1																																		CD163_uc001qta.3_Silent_p.S692S|CD163_uc009zfw.2_Silent_p.S725S	0,1,1	1			p.S692S	NM_004244	NP_004235			0,1,1	C163A_HUMAN	CD163	HGNC	Q86VB7	C163A_HUMAN					9	2204	-			UPI00004565CC	692			Extracellular (Potential).		SNV	CD163,synonymous_variant,p.=,ENST00000359156,NM_004244.5;CD163,synonymous_variant,p.=,ENST00000396620,;CD163,synonymous_variant,p.=,ENST00000432237,NM_203416.3;CD163,synonymous_variant,p.=,ENST00000541972,;CD163,upstream_gene_variant,,ENST00000537626,;CD163,upstream_gene_variant,,ENST00000542280,;CD163,upstream_gene_variant,,ENST00000539632,;CD163,non_coding_transcript_exon_variant,,ENST00000537044,;CD163,upstream_gene_variant,,ENST00000538840,;	uc001qsz.3	c.2076G>A	2279/4268	2	2			c.2076G>A						12	SNP	c.(2074-2076)TCG>TCA	20	20			ovary(6)|pancreas(1)|skin(1)	8	Broad	CD163 antigen isoform a			7639557		0.438	ENSG00000177575	2911	g.chr12:7639557C>T	acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity							111.261861	KEEP	21	23	-1	46	58	21	23	-1	115.970493	46	58	0.300752	1	0	0	0	0	0	0	1	0	--	--		0	T			CD163_uc001qta.3_Silent_p.S692S|CD163_uc009zfw.2_Silent_p.S725S	142	GBM-14-1034-TP	p.S692S	C	ATGAATTGCACGAGGACAGTG	NM_004244	NP_004235	7639557	Q86VB7	C163A_HUMAN	0			9	2204	-	T	T			Silent	692			Extracellular (Potential).			
CD163	0	broad.mit.edu	GRCh37	12	7651670	7651670	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-27-2523-01	TCGA-27-2523-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359156.4:c.572A>T	p.Asp191Val	p.D191V	ENST00000359156	NM_004244.5	191	gAt/gTt	0			1			A	D/V	uc001qsz.3	protein_coding	YES	CCDS8578.1			572/3471									ovary(6)|pancreas(1)|skin(1)	8	c.(571-573)GAT>GTT			PROSITE_profiles:PS50287,hmmpanther:PTHR19331:SF268,hmmpanther:PTHR19331,Pfam_domain:PF00530,Gene3D:3.10.250.10,SMART_domains:SM00202,Superfamily_domains:SSF56487	CD163 antigen isoform a				ENSP00000352071		17-Apr									COSM3399111,COSM3399112	17-Apr	.		ENST00000359156	Transcript			acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	ENSG00000177575	g.chr12:7651670T>A	1631			MODERATE		0.42	neutral	getma.org/?cm=msa&ty=f&p=C163A_HUMAN&rb=162&re=259&var=D191V	getma.org/pdb.php?prot=C163A_HUMAN&from=162&to=259&var=D191V	getma.org/?cm=var&var=hg19,12,7651670,T,A&fts=all	D191V	--	--	1																																		CD163_uc001qta.3_Missense_Mutation_p.D191V|CD163_uc009zfw.2_Missense_Mutation_p.D191V	1,1	1		possibly_damaging(0.694)	p.D191V	NM_004244	NP_004235		tolerated(0.15)	1,1	C163A_HUMAN	CD163	HGNC	Q86VB7	C163A_HUMAN					4	700	-			UPI00004565CC	191			SRCR 2.|Extracellular (Potential).		SNV	CD163,missense_variant,p.Asp191Val,ENST00000359156,NM_004244.5;CD163,missense_variant,p.Asp191Val,ENST00000396620,;CD163,missense_variant,p.Asp191Val,ENST00000432237,NM_203416.3;CD163,missense_variant,p.Asp179Val,ENST00000541972,;CD163,non_coding_transcript_exon_variant,,ENST00000537044,;	uc001qsz.3	c.572A>T	775/4268	2	2			c.572A>T						12	SNP	c.(571-573)GAT>GTT	46	46			ovary(6)|pancreas(1)|skin(1)	8	Broad	CD163 antigen isoform a			7651670		0.428	ENSG00000177575	2911	g.chr12:7651670T>A	acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity							667.115241	KEEP	111	135	-1	170	173	111	135	-1	670.977956	170	173	0.409006	1	0	0	0	0	1	0	0	0	--	--		0	A			CD163_uc001qta.3_Missense_Mutation_p.D191V|CD163_uc009zfw.2_Missense_Mutation_p.D191V	201	GBM-27-2523-TP	p.D191V	T	AGATGCATGATCTATGTTGAA	NM_004244	NP_004235	7651670	Q86VB7	C163A_HUMAN	0			4	700	-	A	A			Missense_Mutation	191			SRCR 2.|Extracellular (Potential).			
CD163	9332		GRCh37	12	7639177	7639177	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000359156.4:c.2376A>T	p.Glu792Asp	p.E792D	ENST00000359156	NM_004244.5	792	gaA/gaT	0																																																																																																																																																																																																																																												
CD163L1	283316	broad.mit.edu	GRCh37	12	7527093	7527093	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0195-01	TCGA-06-0195-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313599.3:c.3354C>T	p.Arg1118=	p.R1118=	ENST00000313599		1118	cgC/cgT	0			1			A	R	uc001qsy.2	protein_coding	YES	CCDS8577.1			3354/4362									ovary(8)|skin(2)|central_nervous_system(1)	11	c.(3352-3354)CGC>CGT			PROSITE_profiles:PS50287,hmmpanther:PTHR19331:SF260,hmmpanther:PTHR19331,Gene3D:3.10.250.10,Pfam_domain:PF00530,SMART_domains:SM00202,Superfamily_domains:SSF56487	scavenger receptor cysteine-rich type 1				ENSP00000315945		13/20	6.59E-05		0.000519			1.51E-05		6.10E-05	rs750899069,COSM3399097	13/20	common_variant		ENST00000313599	Transcript				extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	ENSG00000177675	g.chr12:7527093G>A	30375			LOW								--	--	1																																		CD163L1_uc010sge.1_Silent_p.R1128R	0,1	1			p.R1118R	NM_174941	NP_777601			0,1	C163B_HUMAN	CD163L1	HGNC	Q9NR16	C163B_HUMAN			F5H7R7_HUMAN		13	3380	-			UPI000013F5AD	1118			SRCR 10.|Extracellular (Potential).		SNV	CD163L1,synonymous_variant,p.=,ENST00000313599,;CD163L1,synonymous_variant,p.=,ENST00000416109,NM_174941.4;CD163L1,synonymous_variant,p.=,ENST00000396630,;CD163L1,downstream_gene_variant,,ENST00000544331,;	uc001qsy.2	c.3354C>T	3412/4615	1	1			c.3354C>T						12	SNP	c.(3352-3354)CGC>CGT	57	57			ovary(8)|skin(2)|central_nervous_system(1)	11	Broad	scavenger receptor cysteine-rich type 1			7527093		0.617	ENSG00000177675	2912	g.chr12:7527093G>A		extracellular region|integral to membrane|plasma membrane	scavenger receptor activity							66.450235	KEEP	19	14	-1	12	16	19	14	-1	66.497849	12	16	0.536585	1	0	0	0	0	0	0	1	0	--	--		0	A			CD163L1_uc010sge.1_Silent_p.R1128R	45	GBM-06-0195-TP	p.R1118R	G	GCCCCCAGCCGCGGGAAGGGC	NM_174941	NP_777601	7527093	Q9NR16	C163B_HUMAN	0			13	3380	-	A	A			Silent	1118			SRCR 10.|Extracellular (Potential).			
CD163L1	283316	broad.mit.edu	GRCh37	12	7586265	7586265	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0213-01	TCGA-06-0213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313599.3:c.150G>A	p.Leu50=	p.L50=	ENST00000313599		50	ctG/ctA	0			1			T	L	uc001qsy.2	protein_coding	YES	CCDS8577.1			150/4362									ovary(8)|skin(2)|central_nervous_system(1)	11	c.(148-150)CTG>CTA			PROSITE_profiles:PS50287,hmmpanther:PTHR19331:SF260,hmmpanther:PTHR19331,Gene3D:3.10.250.10,SMART_domains:SM00202,Superfamily_domains:SSF56487	scavenger receptor cysteine-rich type 1				ENSP00000315945		20-Mar									COSM2150830	20-Mar	.		ENST00000313599	Transcript				extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	ENSG00000177675	g.chr12:7586265C>T	30375			LOW								--	--	1																																		CD163L1_uc010sge.1_Silent_p.L50L	1	1			p.L50L	NM_174941	NP_777601			1	C163B_HUMAN	CD163L1	HGNC	Q9NR16	C163B_HUMAN			F5H7R7_HUMAN		3	176	-			UPI000013F5AD	50			SRCR 1.|Extracellular (Potential).		SNV	CD163L1,synonymous_variant,p.=,ENST00000313599,;CD163L1,synonymous_variant,p.=,ENST00000416109,NM_174941.4;CD163L1,synonymous_variant,p.=,ENST00000396630,;CD163L1,5_prime_UTR_variant,,ENST00000543276,;	uc001qsy.2	c.150G>A	208/4615	2	2			c.150G>A						12	SNP	c.(148-150)CTG>CTA	22	22			ovary(8)|skin(2)|central_nervous_system(1)	11	Broad	scavenger receptor cysteine-rich type 1			7586265		0.473	ENSG00000177675	2912	g.chr12:7586265C>T		extracellular region|integral to membrane|plasma membrane	scavenger receptor activity							92.078457	KEEP	31	26	-1	66	72	31	26	-1	98.68115	66	72	0.271429	1	0	0	0	0	0	0	1	0	--	--		0	T			CD163L1_uc010sge.1_Silent_p.L50L	49	GBM-06-0213-TP	p.L50L	C	CTCCATTGACCAGCCTCAACT	NM_174941	NP_777601	7586265	Q9NR16	C163B_HUMAN	0			3	176	-	T	T			Silent	50			SRCR 1.|Extracellular (Potential).			
CD163L1	0	broad.mit.edu	GRCh37	12	7527492	7527492	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-26-5134-01	TCGA-26-5134-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313599.3:c.3029G>T	p.Cys1010Phe	p.C1010F	ENST00000313599		1010	tGc/tTc	0			1			A	C/F	uc001qsy.2	protein_coding	YES	CCDS8577.1			3029/4362									ovary(8)|skin(2)|central_nervous_system(1)	11	c.(3028-3030)TGC>TTC			hmmpanther:PTHR19331:SF260,hmmpanther:PTHR19331	scavenger receptor cysteine-rich type 1				ENSP00000315945		20-Dec									COSM2156978	20-Dec	.		ENST00000313599	Transcript				extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	ENSG00000177675	g.chr12:7527492C>A	30375			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=C163B_HUMAN&rb=1001&re=1038&var=C1010F	NA	getma.org/?cm=var&var=hg19,12,7527492,C,A&fts=all	C1010F	--	--	1																																OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	CD163L1_uc010sge.1_Missense_Mutation_p.C1020F	1	1		probably_damaging(0.95)	p.C1010F	NM_174941	NP_777601		deleterious(0)	1	C163B_HUMAN	CD163L1	HGNC	Q9NR16	C163B_HUMAN			F5H7R7_HUMAN		12	3055	-			UPI000013F5AD	1010			Extracellular (Potential).		SNV	CD163L1,missense_variant,p.Cys1010Phe,ENST00000313599,;CD163L1,missense_variant,p.Cys1020Phe,ENST00000416109,NM_174941.4;CD163L1,missense_variant,p.Cys1010Phe,ENST00000396630,;CD163L1,downstream_gene_variant,,ENST00000544331,;	uc001qsy.2	c.3029G>T	3087/4615	2	2			c.3029G>T						12	SNP	c.(3028-3030)TGC>TTC	21	21			ovary(8)|skin(2)|central_nervous_system(1)	11	Broad	scavenger receptor cysteine-rich type 1			7527492		0.463	ENSG00000177675	2912	g.chr12:7527492C>A		extracellular region|integral to membrane|plasma membrane	scavenger receptor activity							77.227033	KEEP	9	19	0.678571429	31	26	9	19	0.678571429	78.558702	31	26	0.356164	1	0	0	0	0	1	0	0	0	--	--		0	A	OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	CD163L1_uc010sge.1_Missense_Mutation_p.C1020F	183	GBM-26-5134-TP	p.C1010F	C	ATTTGCGAGGCATGGAAACAG	NM_174941	NP_777601	7527492	Q9NR16	C163B_HUMAN	0			12	3055	-	A	A			Missense_Mutation	1010			Extracellular (Potential).			
CD163L1	0	broad.mit.edu	GRCh37	12	7528295	7528295	+	splice_donor_variant	Splice_Site	SNP	C	C	T			TCGA-27-1830-01	TCGA-27-1830-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313599.3:c.2686+1G>A		p.X896_splice	ENST00000313599				0	T:0.0002	T:0	1	T:0.0014		T		uc001qsy.2	protein_coding	YES	CCDS8577.1			2686/4362									ovary(8)|skin(2)|central_nervous_system(1)	11	c.e10+1				scavenger receptor cysteine-rich type 1		T:0	T:0	ENSP00000315945	T:0		4.12E-05	9.62E-05	0.000173			3.00E-05			rs193151180,COSM243552		.		ENST00000313599	Transcript				extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	ENSG00000177675	g.chr12:7528295C>T	30375			HIGH	19-Oct							--	--	1																																		CD163L1_uc010sge.1_Splice_Site_p.R906_splice	0,1	1			p.R896_splice	NM_174941	NP_777601	T:0		0,1	C163B_HUMAN	CD163L1	HGNC	Q9NR16	C163B_HUMAN			F5H7R7_HUMAN		10	2712	-			UPI000013F5AD						SNV	CD163L1,splice_donor_variant,,ENST00000313599,;CD163L1,splice_donor_variant,,ENST00000416109,NM_174941.4;CD163L1,splice_donor_variant,,ENST00000396630,;CD163L1,splice_donor_variant,,ENST00000544331,;	uc001qsy.2	c.2686_splice	-/4615	5	1			c.2686_splice						12	SNP	c.e10+1	9	9			ovary(8)|skin(2)|central_nervous_system(1)	11	Broad	scavenger receptor cysteine-rich type 1			7528295		0.468	ENSG00000177675	2912	g.chr12:7528295C>T		extracellular region|integral to membrane|plasma membrane	scavenger receptor activity							107.209267	KEEP	25	25	-1	63	67	25	25	-1	113.673823	63	67	0.278912	1	0	0	0	0	0	0	0	1	--	--		0	T			CD163L1_uc010sge.1_Splice_Site_p.R906_splice	189	GBM-27-1830-TP	p.R896_splice	C	AAAAATCTCACGGGAACAGAC	NM_174941	NP_777601	7528295	Q9NR16	C163B_HUMAN	0			10	2712	-	T	T			Splice_Site							
CD163L1	0	broad.mit.edu	GRCh37	12	7559406	7559406	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1832-01	TCGA-27-1832-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313599.3:c.809G>A	p.Arg270His	p.R270H	ENST00000313599		270	cGc/cAc	0			1			T	R/H	uc001qsy.2	protein_coding	YES	CCDS8577.1			809/4362									ovary(8)|skin(2)|central_nervous_system(1)	11	c.(808-810)CGC>CAC			PROSITE_profiles:PS50287,hmmpanther:PTHR19331:SF260,hmmpanther:PTHR19331,PROSITE_patterns:PS00420,Gene3D:3.10.250.10,Pfam_domain:PF00530,SMART_domains:SM00202,Superfamily_domains:SSF56487	scavenger receptor cysteine-rich type 1				ENSP00000315945		20-May	1.65E-05	9.77E-05	8.68E-05						rs757615416,COSM1364246	20-May	.		ENST00000313599	Transcript				extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	ENSG00000177675	g.chr12:7559406C>T	30375			MODERATE		1.125	low	getma.org/?cm=msa&ty=f&p=C163B_HUMAN&rb=265&re=362&var=R270H	getma.org/pdb.php?prot=C163B_HUMAN&from=265&to=362&var=R270H	getma.org/?cm=var&var=hg19,12,7559406,C,T&fts=all	R270H	--	--	1																																		CD163L1_uc010sge.1_Missense_Mutation_p.R280H	0,1	1		benign(0.001)	p.R270H	NM_174941	NP_777601		tolerated(0.2)	0,1	C163B_HUMAN	CD163L1	HGNC	Q9NR16	C163B_HUMAN			F5H7R7_HUMAN		5	835	-			UPI000013F5AD	270			SRCR 3.|Extracellular (Potential).		SNV	CD163L1,missense_variant,p.Arg270His,ENST00000313599,;CD163L1,missense_variant,p.Arg280His,ENST00000416109,NM_174941.4;CD163L1,missense_variant,p.Arg270His,ENST00000396630,;CD163L1,upstream_gene_variant,,ENST00000545926,;	uc001qsy.2	c.809G>A	867/4615	1	1			c.809G>A						12	SNP	c.(808-810)CGC>CAC	5	5			ovary(8)|skin(2)|central_nervous_system(1)	11	Broad	scavenger receptor cysteine-rich type 1			7559406		0.448	ENSG00000177675	2912	g.chr12:7559406C>T		extracellular region|integral to membrane|plasma membrane	scavenger receptor activity							-28.157861	KEEP	3	3	-1	69	90	3	3	-1	8.623605	69	90	0.032468	1	0	0	0	0	1	0	0	0	--	--		0	T			CD163L1_uc010sge.1_Missense_Mutation_p.R280H	191	GBM-27-1832-TP	p.R270H	C	CCCCATACAGCGGTTAGTTCC	NM_174941	NP_777601	7559406	Q9NR16	C163B_HUMAN	0			5	835	-	T	T			Missense_Mutation	270			SRCR 3.|Extracellular (Potential).			
CD163L1	283316		GRCh37	12	7559424	7559424	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000313599.3:c.791T>C	p.Leu264Pro	p.L264P	ENST00000313599		264	cTt/cCt	0																																																																																																																																																																																																																																												
CD164	0	broad.mit.edu	GRCh37	6	109690088	109690088	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-41-3392-01	TCGA-41-3392-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310786.4:c.560G>T	p.Cys187Phe	p.C187F	ENST00000310786	NM_001142404.1	187	tGc/tTc	0			1			A	C/F	uc003pte.2	protein_coding	YES	CCDS5073.1			560/594										0	c.(559-561)TGC>TTC			Pfam_domain:PF05283,hmmpanther:PTHR11337,hmmpanther:PTHR11337:SF12	CD164 molecule, sialomucin isoform 1				ENSP00000309376		6-Jun									COSM3410528	6-Jun	.		ENST00000310786	Transcript			hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction	endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane	protein binding	ENSG00000135535	g.chr6:109690088C>A	1632			MODERATE		2.08	medium	getma.org/?cm=msa&ty=f&p=MUC24_HUMAN&rb=4&re=189&var=C187F	NA	getma.org/?cm=var&var=hg19,6,109690088,C,A&fts=all	C187F	--	--	1																																		CD164_uc003ptd.2_Intron|CD164_uc003ptf.2_Missense_Mutation_p.C168F|CD164_uc011eap.1_Intron|CD164_uc010kdn.2_Missense_Mutation_p.C174F	1	1		possibly_damaging(0.639)	p.C187F	NM_006016	NP_006007		deleterious(0)	1	MUC24_HUMAN	CD164	HGNC	Q04900	MUC24_HUMAN		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)			6	741	-		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)	UPI000006EB36	187			Cytoplasmic (Potential).		SNV	CD164,missense_variant,p.Cys155Phe,ENST00000368961,;CD164,missense_variant,p.Cys187Phe,ENST00000310786,NM_001142404.1,NM_006016.4;CD164,missense_variant,p.Cys174Phe,ENST00000275080,NM_001142401.1;CD164,missense_variant,p.Cys168Phe,ENST00000324953,NM_001142402.1;CD164,missense_variant,p.Cys153Phe,ENST00000504373,;CD164,intron_variant,,ENST00000413644,NM_001142403.1;CD164,intron_variant,,ENST00000512821,;CD164,non_coding_transcript_exon_variant,,ENST00000506649,;CD164,non_coding_transcript_exon_variant,,ENST00000415861,;CD164,non_coding_transcript_exon_variant,,ENST00000499860,;	uc003pte.2	c.560G>T	626/2993	1	1			c.560G>T						6	SNP	c.(559-561)TGC>TTC	55	55				0	Broad	CD164 molecule, sialomucin isoform 1			109690088		0.383	ENSG00000135535	2913	g.chr6:109690088C>A	hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction	endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane	protein binding							10.12257	KEEP	4	2	0.333333333	18	19	4	2	0.333333333	14.821684	18	19	0.15	1	0	0	0	0	1	0	0	0	--	--		0	A			CD164_uc003ptd.2_Intron|CD164_uc003ptf.2_Missense_Mutation_p.C168F|CD164_uc011eap.1_Intron|CD164_uc010kdn.2_Missense_Mutation_p.C174F	254	GBM-41-3392-TP	p.C187F	C	TTTAGATTTGCAGAATTTATA	NM_006016	NP_006007	109690088	Q04900	MUC24_HUMAN	0		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)	6	741	-	A	A		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)	Missense_Mutation	187			Cytoplasmic (Potential).			
CD177	0	broad.mit.edu	GRCh37	19	43859911	43859911	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	G	G	C			TCGA-76-4926-01	TCGA-76-4926-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000457794.2:c.*186G>C		*62*	ENST00000457794				0			1			C		uc002owi.2	nonsense_mediated_decay	YES				-/438									central_nervous_system(1)	1	c.(478-480)GAT>CAT				CD177 molecule precursor				ENSP00000388794		9-Apr									COSM3404344	9-Apr	.		ENST00000457794	Transcript			blood coagulation|leukocyte migration	anchored to membrane|plasma membrane		ENSG00000204936	g.chr19:43859911G>C	30072			MODIFIER		1.1	low	getma.org/?cm=msa&ty=f&p=CD177_HUMAN&rb=133&re=210&var=D160H	NA	getma.org/?cm=var&var=hg19,19,43859911,G,C&fts=all	D160H	--	--	1																																		CD177_uc010eis.2_RNA|CD177_uc002owj.2_RNA	1	1			p.D160H	NM_020406	NP_065139			1	CD177_HUMAN	CD177	HGNC	Q8N6Q3	CD177_HUMAN					4	520	+		Prostate(69;0.00682)	UPI000013C4F9	160			UPAR/Ly6 1.		SNV	CD177,missense_variant,p.Asp160His,ENST00000378009,NM_020406.2;CD177,downstream_gene_variant,,ENST00000378012,;CTC-490G23.4,downstream_gene_variant,,ENST00000607109,;CD177,3_prime_UTR_variant,,ENST00000457794,;CD177,downstream_gene_variant,,ENST00000607855,;CD177,missense_variant,p.Asp160His,ENST00000607517,;	uc002owi.2	c.478G>C	624/1512	3	3			c.478G>C						19	SNP	c.(478-480)GAT>CAT	11	11			central_nervous_system(1)	1	Broad	CD177 molecule precursor			43859911		0.582	ENSG00000204936	2915	g.chr19:43859911G>C	blood coagulation|leukocyte migration	anchored to membrane|plasma membrane								166.70367	KEEP	24	26	-1	46	57	24	26	-1	167.770601	46	57	0.398305	1	0	0	0	0	1	0	0	0	--	--		0	C			CD177_uc010eis.2_RNA|CD177_uc002owj.2_RNA	266	GBM-76-4926-TP	p.D160H	G	ACACTGTTATGATGGCCTCCT	NM_020406	NP_065139	43859911	Q8N6Q3	CD177_HUMAN	0			4	520	+	C	C		Prostate(69;0.00682)	Missense_Mutation	160			UPAR/Ly6 1.			
CD19	930	broad.mit.edu	GRCh37	16	28948983	28948983	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01	TCGA-06-0173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000538922.1:c.1411C>T	p.Pro471Ser	p.P471S	ENST00000538922	NM_001178098.1	471	Ccg/Tcg	0			1			T	P/S	uc002drs.2	protein_coding		CCDS10644.1			1411/1671									ovary(2)|central_nervous_system(1)	3	c.(1411-1413)CCG>TCG			hmmpanther:PTHR16674,hmmpanther:PTHR16674:SF1	CD19 antigen precursor				ENSP00000313419		15-Nov									COSM3402250	15-Nov	.		ENST00000324662	Transcript	1		cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	ENSG00000177455	g.chr16:28948983C>T	1633			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=CD19_HUMAN&rb=316&re=515&var=P471S	NA	getma.org/?cm=var&var=hg19,16,28948983,C,T&fts=all	P471S	--	--	1																																		uc010vct.1_Intron|CD19_uc010byo.1_Missense_Mutation_p.P471S	1			probably_damaging(0.968)	p.P471S	NM_001770	NP_001761		deleterious(0.01)	1	CD19_HUMAN	CD19	HGNC	P15391	CD19_HUMAN			Q71UW0_HUMAN		11	1473	+			UPI000006E166	471			Cytoplasmic (Potential).		SNV	CD19,missense_variant,p.Pro471Ser,ENST00000538922,NM_001178098.1,NM_001770.5;CD19,missense_variant,p.Pro471Ser,ENST00000324662,;CD19,missense_variant,p.Pro471Ser,ENST00000567541,;RABEP2,upstream_gene_variant,,ENST00000566762,;CD19,non_coding_transcript_exon_variant,,ENST00000565089,;CD19,non_coding_transcript_exon_variant,,ENST00000567368,;CD19,downstream_gene_variant,,ENST00000566890,;	uc002drs.2	c.1411C>T	1455/1932	2	2			c.1411C>T						16	SNP	c.(1411-1413)CCG>TCG	36	36			ovary(2)|central_nervous_system(1)	3	Broad	CD19 antigen precursor			28948983		0.577	ENSG00000177455	2917	g.chr16:28948983C>T	cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity							-17.584001	KEEP	4	1	-1	85	84	4	1	-1	7.769531	85	84	0.036697	1	0	0	0	0	1	0	0	0	--	--		0	T			uc010vct.1_Intron|CD19_uc010byo.1_Missense_Mutation_p.P471S	36	GBM-06-0173-TP	p.P471S	C	GCTGACCCAGCCGGTCGCCAG	NM_001770	NP_001761	28948983	P15391	CD19_HUMAN	0			11	1473	+	T	T			Missense_Mutation	471			Cytoplasmic (Potential).			
CD1B	0	broad.mit.edu	GRCh37	1	158299678	158299678	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0821-01	TCGA-12-0821-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368168.3:c.571G>A	p.Val191Ile	p.V191I	ENST00000368168	NM_001764.2	191	Gtc/Atc	0		T:0	1	T:0		T	V/I	uc001frx.2	protein_coding	YES	CCDS1176.1			571/1002									ovary(2)	2	c.(571-573)GTC>ATC			Gene3D:3.30.500.10,PROSITE_profiles:PS50835,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF130,Superfamily_domains:SSF54452	CD1B antigen precursor		T:0.001		ENSP00000357150	T:0	6-Mar	0.000107	9.61E-05		0.000231		6.01E-05		0.00037	rs186845827,COSM1985994	6-Mar	.		ENST00000368168	Transcript		T:0.0004	antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	ENSG00000158485	g.chr1:158299678C>T	1635			MODERATE		1.06	low	getma.org/?cm=msa&ty=f&p=CD1B_HUMAN&rb=185&re=295&var=V191I	getma.org/pdb.php?prot=CD1B_HUMAN&from=185&to=295&var=V191I	getma.org/?cm=var&var=hg19,1,158299678,C,T&fts=all	V191I	--	--	1																																		CD1B_uc001frw.2_Missense_Mutation_p.V84I	0,1	1		benign(0.002)	p.V191I	NM_001764	NP_001755	T:0.001	tolerated(0.29)	0,1	CD1B_HUMAN	CD1B	HGNC	P29016	CD1B_HUMAN			Q9UN97_HUMAN,B4E0D3_HUMAN		3	679	-	all_hematologic(112;0.0378)		UPI0000127333	191			Extracellular (Potential).|Ig-like.		SNV	CD1B,missense_variant,p.Val191Ile,ENST00000368168,NM_001764.2;CD1B,missense_variant,p.Val159Ile,ENST00000451207,;	uc001frx.2	c.571G>A	679/1395	2	2			c.571G>A						1	SNP	c.(571-573)GTC>ATC	45	45			ovary(2)	2	Broad	CD1B antigen precursor			158299678		0.438	ENSG00000158485	2919	g.chr1:158299678C>T	antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding							438.977146	KEEP	93	72	-1	148	62	93	72	-1	440.461956	148	62	0.428571	1	0	0	0	0	1	0	0	0	--	--		0	T			CD1B_uc001frw.2_Missense_Mutation_p.V84I	123	GBM-12-0821-TP	p.V191I	C	GCATTGAGGACGCCCAAGAGA	NM_001764	NP_001755	158299678	P29016	CD1B_HUMAN	0			3	679	-	T	T	all_hematologic(112;0.0378)		Missense_Mutation	191			Extracellular (Potential).|Ig-like.			
CD1D	912	broad.mit.edu	GRCh37	1	158151257	158151257	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0184-01	TCGA-06-0184-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368171.3:c.77del	p.Phe26SerfsTer43	p.F26Sfs*43	ENST00000368171	NM_001766.3	25	cTt/ct	0			1			-	L/X	uc001frr.2	protein_coding	YES	CCDS1173.1			74/1008									ovary(1)	1	c.(73-75)CTTfs			Gene3D:3.30.500.10,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF146	CD1D antigen precursor				ENSP00000357153		7-Mar										7-Mar	.		ENST00000368171	Transcript			antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	ENSG00000158473	g.chr1:158151257delT	1637	3		HIGH								--	--	1																																		CD1D_uc009wsr.1_Frame_Shift_Del_p.L25fs|CD1D_uc009wss.2_Frame_Shift_Del_p.L25fs|CD1D_uc009wst.1_Intron		1			p.L25fs	NM_001766	NP_001757				CD1D_HUMAN	CD1D	HGNC	P15813	CD1D_HUMAN					3	573	+	all_hematologic(112;0.0378)		UPI00000012B1	25			Extracellular (Potential).		deletion	CD1D,frameshift_variant,p.Phe26SerfsTer43,ENST00000368171,NM_001766.3;ELL2P1,upstream_gene_variant,,ENST00000413990,;	uc001frr.2	c.74delT	573/2253	5	5			c.74delT						1	DEL	c.(73-75)CTTfs	14	14			ovary(1)	1	Broad	CD1D antigen precursor			158151257		0.592	ENSG00000158473	2921	g.chr1:158151257delT	antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding																				0.01	1	1	0	1	0	0	0	0	0	--	--		0	-			CD1D_uc009wsr.1_Frame_Shift_Del_p.L25fs|CD1D_uc009wss.2_Frame_Shift_Del_p.L25fs|CD1D_uc009wst.1_Intron	39	GBM-06-0184-TP	p.L25fs	T	CCGCAAAGGCTTTTCCCCCTC	NM_001766	NP_001757	158151257	P15813	CD1D_HUMAN	0			3	573	+	-	-	all_hematologic(112;0.0378)		Frame_Shift_Del	25			Extracellular (Potential).			
CD1D	0	broad.mit.edu	GRCh37	1	158153825	158153825	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368171.3:c.986C>T	p.Thr329Ile	p.T329I	ENST00000368171	NM_001766.3	329	aCt/aTt	0			1			T	T/I	uc001frr.2	protein_coding	YES	CCDS1173.1			986/1008									ovary(1)	1	c.(985-987)ACT>ATT			hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF146	CD1D antigen precursor				ENSP00000357153		7-Jun	1.65E-05							0.000121	rs772663580,COSM3399837	7-Jun	.		ENST00000368171	Transcript			antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	ENSG00000158473	g.chr1:158153825C>T	1637			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=CD1D_HUMAN&rb=293&re=335&var=T329I	NA	getma.org/?cm=var&var=hg19,1,158153825,C,T&fts=all	T329I	--	--	1																																		CD1D_uc009wss.2_Missense_Mutation_p.T236I	0,1	1		benign(0.009)	p.T329I	NM_001766	NP_001757		tolerated(0.45)	0,1	CD1D_HUMAN	CD1D	HGNC	P15813	CD1D_HUMAN					6	1485	+	all_hematologic(112;0.0378)		UPI00000012B1	329			Cytoplasmic (Potential).		SNV	CD1D,missense_variant,p.Thr329Ile,ENST00000368171,NM_001766.3;	uc001frr.2	c.986C>T	1485/2253	1	1			c.986C>T						1	SNP	c.(985-987)ACT>ATT	1	1			ovary(1)	1	Broad	CD1D antigen precursor			158153825		0.512	ENSG00000158473	2921	g.chr1:158153825C>T	antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding							255.765794	KEEP	39	48	-1	39	51	39	48	-1	255.777554	39	51	0.491228	1	0	0	0	0	1	0	0	0	--	--		0	T			CD1D_uc009wss.2_Missense_Mutation_p.T236I	177	GBM-19-5959-TP	p.T329I	C	AAGAGGCAAACGTAAGTCTCC	NM_001766	NP_001757	158153825	P15813	CD1D_HUMAN	0			6	1485	+	T	T	all_hematologic(112;0.0378)		Missense_Mutation	329			Cytoplasmic (Potential).			
CD1D	912		GRCh37	1	158151257	158151257	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000368171.3:c.77del	p.Phe26SerfsTer43	p.F26Sfs*43	ENST00000368171	NM_001766.3	25	cTt/ct	0																																																																																																																																																																																																																																												
CD1E	0	broad.mit.edu	GRCh37	1	158323687	158323687	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T			TCGA-16-0861-01	TCGA-16-0861-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368167.3:c.-92C>T		*31*	ENST00000368167	NM_030893.3			0			1			T		uc001fse.2	protein_coding	YES	CCDS41417.1			-/1167									skin(3)	3	c.(-93--89)GACGA>GATGA				CD1E antigen isoform a precursor				ENSP00000357149		6-Jan										6-Jan	.		ENST00000368167	Transcript			antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		ENSG00000158488	g.chr1:158323687C>T	1638			MODIFIER								--	--	1																																		CD1E_uc010pid.1_Intron|CD1E_uc010pie.1_Translation_Start_Site|CD1E_uc010pif.1_Translation_Start_Site|CD1E_uc001fsd.2_Translation_Start_Site|CD1E_uc001fsk.2_Translation_Start_Site|CD1E_uc001fsj.2_Translation_Start_Site|CD1E_uc001fsc.2_Translation_Start_Site|CD1E_uc010pig.1_RNA|CD1E_uc001fsa.2_Translation_Start_Site|CD1E_uc001fsf.2_Translation_Start_Site|CD1E_uc001fry.2_Translation_Start_Site|CD1E_uc001fsg.2_Translation_Start_Site|CD1E_uc001fsh.2_Translation_Start_Site|CD1E_uc001fsi.2_Translation_Start_Site|CD1E_uc009wsv.2_Translation_Start_Site|CD1E_uc001frz.2_Translation_Start_Site|CD1E_uc009wsw.2_5'Flank		1				NM_030893	NP_112155				CD1E_HUMAN	CD1E	HGNC	P15812	CD1E_HUMAN			Q13974_HUMAN		1	148	+	all_hematologic(112;0.0378)		UPI000046F8C2						SNV	CD1E,5_prime_UTR_variant,,ENST00000444681,NM_001185114.1;CD1E,5_prime_UTR_variant,,ENST00000368167,NM_030893.3;CD1E,5_prime_UTR_variant,,ENST00000368166,NM_001185112.1,NM_001042586.2;CD1E,5_prime_UTR_variant,,ENST00000368165,NM_001185107.1;CD1E,5_prime_UTR_variant,,ENST00000452291,;CD1E,intron_variant,,ENST00000434258,;CD1E,upstream_gene_variant,,ENST00000368160,NM_001042583.2;CD1E,upstream_gene_variant,,ENST00000368161,NM_001042584.2;CD1E,upstream_gene_variant,,ENST00000368163,NM_001042585.2;CD1E,upstream_gene_variant,,ENST00000368162,;CD1E,upstream_gene_variant,,ENST00000368164,NM_001042587.2;CD1E,upstream_gene_variant,,ENST00000368156,NM_001185115.1;CD1E,upstream_gene_variant,,ENST00000368155,NM_001185108.1;CD1E,upstream_gene_variant,,ENST00000368154,NM_001185113.1;CD1E,upstream_gene_variant,,ENST00000368157,NM_001185110.1;CD1E,upstream_gene_variant,,ENST00000464822,;	uc001fse.2	c.-91C>T	148/1458	2	2			c.-91C>T						1	SNP	c.(-93--89)GACGA>GATGA	47	47			skin(3)	3	Broad	CD1E antigen isoform a precursor			158323687		0.542	ENSG00000158488	2922	g.chr1:158323687C>T	antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen								42.939609	KEEP	11	5	-1	11	8	11	5	-1	43.038045	11	8	0.441176	1	0	0	0	0	0	0	0	0	--	--		0	T			CD1E_uc010pid.1_Intron|CD1E_uc010pie.1_Translation_Start_Site|CD1E_uc010pif.1_Translation_Start_Site|CD1E_uc001fsd.2_Translation_Start_Site|CD1E_uc001fsk.2_Translation_Start_Site|CD1E_uc001fsj.2_Translation_Start_Site|CD1E_uc001fsc.2_Translation_Start_Site|CD1E_uc010pig.1_RNA|CD1E_uc001fsa.2_Translation_Start_Site|CD1E_uc001fsf.2_Translation_Start_Site|CD1E_uc001fry.2_Translation_Start_Site|CD1E_uc001fsg.2_Translation_Start_Site|CD1E_uc001fsh.2_Translation_Start_Site|CD1E_uc001fsi.2_Translation_Start_Site|CD1E_uc009wsv.2_Translation_Start_Site|CD1E_uc001frz.2_Translation_Start_Site|CD1E_uc009wsw.2_5'Flank	156	GBM-16-0861-TP		C	GGAAGTCAGACGAGAGTGCAA	NM_030893	NP_112155	158323687	P15812	CD1E_HUMAN	0			1	148	+	T	T	all_hematologic(112;0.0378)		Translation_Start_Site							
CD1E	913		GRCh37	1	158325309	158325309	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000368167.3:c.575G>A	p.Arg192Gln	p.R192Q	ENST00000368167	NM_030893.3	192	cGa/cAa	0																																																																																																																																																																																																																																												
CD2	914	broad.mit.edu	GRCh37	1	117311264	117311264	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0216-01	TCGA-06-0216-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369478.3:c.915G>A	p.Gln305=	p.Q305=	ENST00000369478	NM_001767.3	305	caG/caA	0			1			A	Q	uc001egu.3	protein_coding	YES	CCDS889.1			915/1056									breast(1)	1	c.(913-915)CAG>CAA			hmmpanther:PTHR12080,hmmpanther:PTHR12080:SF10	CD2 molecule precursor	Alefacept(DB00092)			ENSP00000358490		5-May									COSM2150912	5-May	.		ENST00000369478	Transcript			blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity	ENSG00000116824	g.chr1:117311264G>A	1639			LOW								--	--	1																																			1	1			p.Q305Q	NM_001767	NP_001758			1	CD2_HUMAN	CD2	HGNC	P06729	CD2_HUMAN		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Q53F96_HUMAN		5	944	+	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)	UPI0000062209	305			Cytoplasmic (Potential).|Pro-rich.		SNV	CD2,synonymous_variant,p.=,ENST00000369478,NM_001767.3;	uc001egu.3	c.915G>A	1023/1609	2	2			c.915G>A						1	SNP	c.(913-915)CAG>CAA	47	47			breast(1)	1	Broad	CD2 molecule precursor		Alefacept(DB00092)	117311264		0.622	ENSG00000116824	2923	g.chr1:117311264G>A	blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity	NSCLC(14;263 555 26380 43512 51332)			NSCLC(14;263 555 26380 43512 51332)			222.677168	KEEP	37	46	-1	49	45	37	46	-1	223.159708	49	45	0.441718	1	0	0	0	0	0	0	1	0	--	--		0	A				51	GBM-06-0216-TP	p.Q305Q	G	ACCGTGTTCAGCACCAGCCTC	NM_001767	NP_001758	117311264	P06729	CD2_HUMAN	0		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	5	944	+	A	A	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)	Silent	305			Cytoplasmic (Potential).|Pro-rich.			
CD2	0	broad.mit.edu	GRCh37	1	117311354	117311354	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-32-2494-01	TCGA-32-2494-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369478.3:c.1008delA	p.Lys336AsnfsTer26	p.K336Nfs*26	ENST00000369478	NM_001767.3	335	ccA/cc	0			1			-	P/X	uc001egu.3	protein_coding	YES	CCDS889.1			1005/1056									breast(1)	1	c.(1003-1005)CCAfs			hmmpanther:PTHR12080,hmmpanther:PTHR12080:SF10,Low_complexity_(Seg):seg	CD2 molecule precursor	Alefacept(DB00092)			ENSP00000358490		5-May										5-May	.		ENST00000369478	Transcript			blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity	ENSG00000116824	g.chr1:117311354delA	1639	3		HIGH								--	--	1																																				1			p.P335fs	NM_001767	NP_001758				CD2_HUMAN	CD2	HGNC	P06729	CD2_HUMAN		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Q53F96_HUMAN		5	1034	+	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)	UPI0000062209	335			Cytoplasmic (Potential).|Pro-rich.		deletion	CD2,frameshift_variant,p.Lys336AsnfsTer26,ENST00000369478,NM_001767.3;	uc001egu.3	c.1005delA	1113/1609	5	5			c.1005delA						1	DEL	c.(1003-1005)CCAfs	35	35			breast(1)	1	Broad	CD2 molecule precursor		Alefacept(DB00092)	117311354		0.517	ENSG00000116824	2923	g.chr1:117311354delA	blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity	NSCLC(14;263 555 26380 43512 51332)			NSCLC(14;263 555 26380 43512 51332)																0.02	1	1	0	1	0	0	0	0	0	--	--		0	-				236	GBM-32-2494-TP	p.P335fs	A	GAGTTCAGCCAAAACCTCCCC	NM_001767	NP_001758	117311354	P06729	CD2_HUMAN	0		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	5	1034	+	-	-	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)	Frame_Shift_Del	335			Cytoplasmic (Potential).|Pro-rich.			
CD200R1L	0	broad.mit.edu	GRCh37	3	112546470	112546470	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-27-2526-01	TCGA-27-2526-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398214.1:c.174A>G	p.Ala58=	p.A58=	ENST00000398214	NM_001008784.2	58	gcA/gcG	0			1			C	A	uc003dzi.1	protein_coding	YES	CCDS43131.1			174/816									ovary(1)	1	c.(172-174)GCA>GCG			hmmpanther:PTHR21462,hmmpanther:PTHR21462:SF3	CD200 cell surface glycoprotein receptor 2				ENSP00000381272		6-Mar	8.24E-06					1.50E-05			rs776132472,COSM3408139	6-Mar	.		ENST00000398214	Transcript				integral to membrane	receptor activity	ENSG00000206531	g.chr3:112546470T>C	24665			LOW								--	--	1																																		CD200R1L_uc011bhw.1_Silent_p.A37A|CD200R1L_uc010hqf.1_Silent_p.A37A	0,1	1			p.A58A	NM_001008784	NP_001008784			0,1	MO2R2_HUMAN	CD200R1L	HGNC	Q6Q8B3	MO2R2_HUMAN					3	400	-			UPI000042263C	58			Ig-like V-type.|Extracellular (Potential).		SNV	CD200R1L,synonymous_variant,p.=,ENST00000488794,;CD200R1L,synonymous_variant,p.=,ENST00000448932,NM_001199215.1;CD200R1L,synonymous_variant,p.=,ENST00000398214,NM_001008784.2;CD200R1L,3_prime_UTR_variant,,ENST00000486723,;	uc003dzi.1	c.174A>G	400/1296	3	3			c.174A>G						3	SNP	c.(172-174)GCA>GCG	52	52			ovary(1)	1	Broad	CD200 cell surface glycoprotein receptor 2			112546470		0.393	ENSG00000206531	2926	g.chr3:112546470T>C		integral to membrane	receptor activity							326.409881	KEEP	45	66	-1	67	74	45	66	-1	326.846847	67	74	0.452055	1	0	0	0	0	0	0	1	0	--	--		0	C			CD200R1L_uc011bhw.1_Silent_p.A37A|CD200R1L_uc010hqf.1_Silent_p.A37A	203	GBM-27-2526-TP	p.A58A	T	AATTTCTTAATGCGATAGGAG	NM_001008784	NP_001008784	112546470	Q6Q8B3	MO2R2_HUMAN	0			3	400	-	C	C			Silent	58			Ig-like V-type.|Extracellular (Potential).			
CD207	50489	broad.mit.edu	GRCh37	2	71058942	71058942	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-06-0124-01	TCGA-06-0124-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000410009.3:c.726G>C	p.Leu242=	p.L242=	ENST00000410009	NM_015717.3	242	ctG/ctC	0			1			G	L	uc002shg.2	protein_coding	YES				726/987									ovary(1)|lung(1)	2	c.(724-726)CTG>CTC			PROSITE_profiles:PS50041,hmmpanther:PTHR22802:SF14,hmmpanther:PTHR22802,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436	CD207 antigen, langerin				ENSP00000386378		6-May									COSM3407953	6-May	.		ENST00000410009	Transcript	1		defense response to virus	endocytic vesicle|integral to membrane	mannose binding	ENSG00000116031	g.chr2:71058942C>G	17935			LOW								--	--	1																																			1	1			p.L242L	NM_015717	NP_056532			1	CLC4K_HUMAN	CD207	HGNC	Q9UJ71	CLC4K_HUMAN					5	773	-			UPI0000410F0C	242			C-type lectin.|Extracellular (Potential).		SNV	CD207,synonymous_variant,p.=,ENST00000410009,NM_015717.3;	uc002shg.2	c.726G>C	772/1867	3	3			c.726G>C						2	SNP	c.(724-726)CTG>CTC	4	4			ovary(1)|lung(1)	2	Broad	CD207 antigen, langerin			71058942		0.537	ENSG00000116031	2927	g.chr2:71058942C>G	defense response to virus	endocytic vesicle|integral to membrane	mannose binding							90.742781	KEEP	15	16	-1	37	28	15	16	-1	93.401658	37	28	0.318681	1	0	0	0	0	0	0	1	0	--	--		0	G				11	GBM-06-0124-TP	p.L242L	C	CTGTTTTATACAGAAACTCCT	NM_015717	NP_056532	71058942	Q9UJ71	CLC4K_HUMAN	0			5	773	-	G	G			Silent	242			C-type lectin.|Extracellular (Potential).			
CD207	50489	broad.mit.edu	GRCh37	2	71060827	71060827	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0241-01	TCGA-06-0241-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000410009.3:c.515G>A	p.Arg172Gln	p.R172Q	ENST00000410009	NM_015717.3	172	cGg/cAg	0		T:0	1	T:0		T	R/Q	uc002shg.2	protein_coding	YES				515/987									ovary(1)|lung(1)	2	c.(514-516)CGG>CAG			hmmpanther:PTHR22802:SF14,hmmpanther:PTHR22802,Gene3D:1.20.1170.10	CD207 antigen, langerin		T:0		ENSP00000386378	T:0	6-Mar									rs567546839,COSM3407954	6-Mar	.		ENST00000410009	Transcript	1	T:0.0026	defense response to virus	endocytic vesicle|integral to membrane	mannose binding	ENSG00000116031	g.chr2:71060827C>T	17935			MODERATE		-0.25	neutral	getma.org/?cm=msa&ty=f&p=CLC4K_HUMAN&rb=115&re=211&var=R172Q	getma.org/pdb.php?prot=CLC4K_HUMAN&from=115&to=211&var=R172Q	getma.org/?cm=var&var=hg19,2,71060827,C,T&fts=all	R172Q	--	--	1																																			0,1	1		benign(0.002)	p.R172Q	NM_015717	NP_056532	T:0.0133	tolerated(0.99)	0,1	CLC4K_HUMAN	CD207	HGNC	Q9UJ71	CLC4K_HUMAN					3	562	-			UPI0000410F0C	172			Potential.|Extracellular (Potential).		SNV	CD207,missense_variant,p.Arg172Gln,ENST00000410009,NM_015717.3;	uc002shg.2	c.515G>A	561/1867	2	2			c.515G>A						2	SNP	c.(514-516)CGG>CAG	26	26			ovary(1)|lung(1)	2	Broad	CD207 antigen, langerin			71060827		0.428	ENSG00000116031	2927	g.chr2:71060827C>T	defense response to virus	endocytic vesicle|integral to membrane	mannose binding							119.696435	KEEP	20	18	-1	22	22	20	18	-1	119.796475	22	22	0.461538	1	0	0	0	0	1	0	0	0	--	--		0	T				57	GBM-06-0241-TP	p.R172Q	C	CTGGAGTGCCCGGATCTTTGT	NM_015717	NP_056532	71060827	Q9UJ71	CLC4K_HUMAN	0			3	562	-	T	T			Missense_Mutation	172			Potential.|Extracellular (Potential).			
CD209	30835	broad.mit.edu	GRCh37	19	7807928	7807928	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0155-01	TCGA-06-0155-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315599.7:c.1212G>A	p.Ala404=	p.A404=	ENST00000315599	NM_021155.3	404	gcG/gcA	0	T:0		1			T	A	uc002mht.2	protein_coding	YES	CCDS12186.1			1212/1215									skin(1)	1	c.(1210-1212)GCG>GCA			Low_complexity_(Seg):seg	CD209 molecule isoform 1			T:0.0001	ENSP00000315477		7-Jul	1.65E-05					1.50E-05		6.07E-05	rs373806865,COSM1003355,COSM1003356	7-Jul	.		ENST00000315599	Transcript	1		cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	ENSG00000090659	g.chr19:7807928C>T	1641			LOW								--	--	1																																		CD209_uc010xju.1_Silent_p.A243A|CD209_uc010dvp.2_3'UTR|CD209_uc002mhr.2_Silent_p.A380A|CD209_uc002mhs.2_Silent_p.A334A|CD209_uc002mhu.2_Silent_p.A312A|CD209_uc010dvq.2_Silent_p.A398A|CD209_uc002mhq.2_Silent_p.A404A|CD209_uc002mhv.2_Silent_p.A380A|CD209_uc002mhx.2_Silent_p.A360A|CD209_uc002mhw.2_Silent_p.A268A|CD209_uc010dvr.2_Silent_p.A168A	0,1,1	1			p.A404A	NM_021155	NP_066978			0,1,1	CD209_HUMAN	CD209	HGNC	Q9NNX6	CD209_HUMAN			B4E2A8_HUMAN		7	1279	-			UPI000003422C	404			Extracellular (Probable).		SNV	CD209,synonymous_variant,p.=,ENST00000315599,NM_021155.3,NM_001144895.1,NM_001144897.1;CD209,synonymous_variant,p.=,ENST00000301357,NM_001144894.1;CD209,synonymous_variant,p.=,ENST00000593660,;CD209,synonymous_variant,p.=,ENST00000601951,;CD209,synonymous_variant,p.=,ENST00000394173,NM_001144899.1;CD209,synonymous_variant,p.=,ENST00000354397,;CD209,synonymous_variant,p.=,ENST00000315591,NM_001144896.1;CD209,synonymous_variant,p.=,ENST00000204801,;CD209,synonymous_variant,p.=,ENST00000602261,;CD209,synonymous_variant,p.=,ENST00000593821,NM_001144893.1;CD209,synonymous_variant,p.=,ENST00000394161,;CD209,downstream_gene_variant,,ENST00000601256,;	uc002mht.2	c.1212G>A	1235/4280	1	1			c.1212G>A						19	SNP	c.(1210-1212)GCG>GCA	4	4			skin(1)	1	Broad	CD209 molecule isoform 1			7807928		0.502	ENSG00000090659	2928	g.chr19:7807928C>T	cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding							189.504406	KEEP	49	42	-1	142	107	49	42	-1	203.790331	142	107	0.264085	1	0	0	0	0	0	0	1	0	--	--		0	T			CD209_uc010xju.1_Silent_p.A243A|CD209_uc010dvp.2_3'UTR|CD209_uc002mhr.2_Silent_p.A380A|CD209_uc002mhs.2_Silent_p.A334A|CD209_uc002mhu.2_Silent_p.A312A|CD209_uc010dvq.2_Silent_p.A398A|CD209_uc002mhq.2_Silent_p.A404A|CD209_uc002mhv.2_Silent_p.A380A|CD209_uc002mhx.2_Silent_p.A360A|CD209_uc002mhw.2_Silent_p.A268A|CD209_uc010dvr.2_Silent_p.A168A	27	GBM-06-0155-TP	p.A404A	C	AGTTCTGCTACGCAGGAGGGG	NM_021155	NP_066978	7807928	Q9NNX6	CD209_HUMAN	0			7	1279	-	T	T			Silent	404			Extracellular (Probable).			
CD209	30835	broad.mit.edu	GRCh37	19	7810925	7810925	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0650-01	TCGA-06-0650-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315599.7:c.227C>T	p.Ala76Val	p.A76V	ENST00000315599	NM_021155.3	76	gCg/gTg	0			1			A	A/V	uc002mht.2	protein_coding	YES	CCDS12186.1			227/1215									skin(1)	1	c.(226-228)GCG>GTG			hmmpanther:PTHR22802:SF205,hmmpanther:PTHR22802	CD209 molecule isoform 1				ENSP00000315477		7-Apr	2.47E-05	9.61E-05		0.000116		1.50E-05			rs751060553,COSM3404786,COSM3404785	7-Apr	.		ENST00000315599	Transcript	1		cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	ENSG00000090659	g.chr19:7810925G>A	1641			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=CD209_HUMAN&rb=1&re=200&var=A76V	NA	getma.org/?cm=var&var=hg19,19,7810925,G,A&fts=all	A76V	--	--	1																																		CD209_uc010xju.1_Missense_Mutation_p.A76V|CD209_uc010dvp.2_Missense_Mutation_p.A52V|CD209_uc002mhr.2_Missense_Mutation_p.A52V|CD209_uc002mhs.2_Missense_Mutation_p.A52V|CD209_uc002mhu.2_Missense_Mutation_p.A76V|CD209_uc010dvq.2_Missense_Mutation_p.A76V|CD209_uc002mhq.2_Missense_Mutation_p.A76V|CD209_uc002mhv.2_Missense_Mutation_p.A52V|CD209_uc002mhx.2_Missense_Mutation_p.A32V|CD209_uc002mhw.2_Missense_Mutation_p.A32V|CD209_uc010dvr.2_Intron	0,1,1	1		benign(0.002)	p.A76V	NM_021155	NP_066978		tolerated(0.24)	0,1,1	CD209_HUMAN	CD209	HGNC	Q9NNX6	CD209_HUMAN			B4E2A8_HUMAN		4	294	-			UPI000003422C	76			Extracellular (Probable).		SNV	CD209,missense_variant,p.Ala76Val,ENST00000315599,NM_021155.3,NM_001144895.1,NM_001144897.1;CD209,missense_variant,p.Ala32Val,ENST00000301357,NM_001144894.1;CD209,missense_variant,p.Ala52Val,ENST00000593660,;CD209,missense_variant,p.Ala52Val,ENST00000601951,;CD209,missense_variant,p.Ala76Val,ENST00000394173,NM_001144899.1;CD209,missense_variant,p.Ala76Val,ENST00000354397,;CD209,missense_variant,p.Ala52Val,ENST00000315591,NM_001144896.1;CD209,missense_variant,p.Ala32Val,ENST00000204801,;CD209,missense_variant,p.Ala52Val,ENST00000601256,;CD209,missense_variant,p.Ala76Val,ENST00000602261,;CD209,missense_variant,p.Ala32Val,ENST00000593821,NM_001144893.1;CD209,intron_variant,,ENST00000394161,;RPL21P129,upstream_gene_variant,,ENST00000491732,;	uc002mht.2	c.227C>T	250/4280	2	2			c.227C>T						19	SNP	c.(226-228)GCG>GTG	24	24			skin(1)	1	Broad	CD209 molecule isoform 1			7810925		0.458	ENSG00000090659	2928	g.chr19:7810925G>A	cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding							16.45103	KEEP	13	8	-1	83	99	13	8	-1	43.978737	83	99	0.106145	1	0	0	0	0	1	0	0	0	--	--		0	A			CD209_uc010xju.1_Missense_Mutation_p.A76V|CD209_uc010dvp.2_Missense_Mutation_p.A52V|CD209_uc002mhr.2_Missense_Mutation_p.A52V|CD209_uc002mhs.2_Missense_Mutation_p.A52V|CD209_uc002mhu.2_Missense_Mutation_p.A76V|CD209_uc010dvq.2_Missense_Mutation_p.A76V|CD209_uc002mhq.2_Missense_Mutation_p.A76V|CD209_uc002mhv.2_Missense_Mutation_p.A52V|CD209_uc002mhx.2_Missense_Mutation_p.A32V|CD209_uc002mhw.2_Missense_Mutation_p.A32V|CD209_uc010dvr.2_Intron	63	GBM-06-0650-TP	p.A76V	G	CTGGTAGATCGCGTCTTGCCT	NM_021155	NP_066978	7810925	Q9NNX6	CD209_HUMAN	0			4	294	-	A	A			Missense_Mutation	76			Extracellular (Probable).			
CD209	0	broad.mit.edu	GRCh37	19	7812212	7812212	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6698-01	TCGA-06-6698-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315599.7:c.86G>A	p.Arg29Gln	p.R29Q	ENST00000315599	NM_021155.3	29	cGa/cAa	0			1			T	R/Q	uc002mht.2	protein_coding	YES	CCDS12186.1			86/1215									skin(1)	1	c.(85-87)CGA>CAA			hmmpanther:PTHR22802:SF205,hmmpanther:PTHR22802	CD209 molecule isoform 1				ENSP00000315477		7-Feb									COSM3404788,COSM3404787	7-Feb	.		ENST00000315599	Transcript	1		cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	ENSG00000090659	g.chr19:7812212C>T	1641			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=CD209_HUMAN&rb=1&re=200&var=R29Q	NA	getma.org/?cm=var&var=hg19,19,7812212,C,T&fts=all	R29Q	--	--	1																																		CD209_uc010xju.1_Missense_Mutation_p.R29Q|CD209_uc010dvp.2_Missense_Mutation_p.R29Q|CD209_uc002mhr.2_Missense_Mutation_p.R29Q|CD209_uc002mhs.2_Missense_Mutation_p.R29Q|CD209_uc002mhu.2_Missense_Mutation_p.R29Q|CD209_uc010dvq.2_Missense_Mutation_p.R29Q|CD209_uc002mhq.2_Missense_Mutation_p.R29Q|CD209_uc002mhv.2_Missense_Mutation_p.R29Q|CD209_uc002mhx.2_Intron|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Missense_Mutation_p.R29Q	1,1	1		benign(0.027)	p.R29Q	NM_021155	NP_066978		tolerated(0.28)	1,1	CD209_HUMAN	CD209	HGNC	Q9NNX6	CD209_HUMAN			B4E2A8_HUMAN		2	153	-			UPI000003422C	29			Cytoplasmic (Probable).		SNV	CD209,missense_variant,p.Arg29Gln,ENST00000315599,NM_021155.3,NM_001144895.1,NM_001144897.1;CD209,missense_variant,p.Arg29Gln,ENST00000593660,;CD209,missense_variant,p.Arg29Gln,ENST00000601951,;CD209,missense_variant,p.Arg29Gln,ENST00000394173,NM_001144899.1;CD209,missense_variant,p.Arg29Gln,ENST00000354397,;CD209,missense_variant,p.Arg29Gln,ENST00000315591,NM_001144896.1;CD209,missense_variant,p.Arg29Gln,ENST00000601256,;CD209,missense_variant,p.Arg29Gln,ENST00000602261,;CD209,missense_variant,p.Arg29Gln,ENST00000394161,;CD209,intron_variant,,ENST00000301357,NM_001144894.1;CD209,intron_variant,,ENST00000204801,;CD209,intron_variant,,ENST00000593821,NM_001144893.1;RPL21P129,upstream_gene_variant,,ENST00000491732,;	uc002mht.2	c.86G>A	109/4280	1	1			c.86G>A						19	SNP	c.(85-87)CGA>CAA	7	7			skin(1)	1	Broad	CD209 molecule isoform 1			7812212		0.378	ENSG00000090659	2928	g.chr19:7812212C>T	cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding							-66.175897	KEEP	8	13	-1	250	264	8	13	-1	33.304257	250	264	0.041002	1	0	0	0	0	1	0	0	0	--	--		0	T			CD209_uc010xju.1_Missense_Mutation_p.R29Q|CD209_uc010dvp.2_Missense_Mutation_p.R29Q|CD209_uc002mhr.2_Missense_Mutation_p.R29Q|CD209_uc002mhs.2_Missense_Mutation_p.R29Q|CD209_uc002mhu.2_Missense_Mutation_p.R29Q|CD209_uc010dvq.2_Missense_Mutation_p.R29Q|CD209_uc002mhq.2_Missense_Mutation_p.R29Q|CD209_uc002mhv.2_Missense_Mutation_p.R29Q|CD209_uc002mhx.2_Intron|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Missense_Mutation_p.R29Q	112	GBM-06-6698-TP	p.R29Q	C	CTTGTATCCTCGAGTCTGTCG	NM_021155	NP_066978	7812212	Q9NNX6	CD209_HUMAN	0			2	153	-	T	T			Missense_Mutation	29			Cytoplasmic (Probable).			
CD209	0	broad.mit.edu	GRCh37	19	7808071	7808071	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-4068-01	TCGA-19-4068-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315599.7:c.1069G>A	p.Ala357Thr	p.A357T	ENST00000315599	NM_021155.3	357	Gcg/Acg	0	T:0	T:0.0008	1	T:0		T	A/T	uc002mht.2	protein_coding	YES	CCDS12186.1			1069/1215									skin(1)	1	c.(1069-1071)GCG>ACG			PROSITE_profiles:PS50041,hmmpanther:PTHR22802:SF205,hmmpanther:PTHR22802,PROSITE_patterns:PS00615,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	CD209 molecule isoform 1		T:0	T:0.0001	ENSP00000315477	T:0	7-Jul	8.24E-06			0.000116					rs200282091,COSM2156447,COSM2156446	7-Jul	.		ENST00000315599	Transcript	1	T:0.0002	cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	ENSG00000090659	g.chr19:7808071C>T	1641			MODERATE		2.115	medium	getma.org/?cm=msa&ty=f&p=CD209_HUMAN&rb=273&re=379&var=A357T	getma.org/pdb.php?prot=CD209_HUMAN&from=273&to=379&var=A357T	getma.org/?cm=var&var=hg19,19,7808071,C,T&fts=all	A357T	--	--	1																																		CD209_uc010xju.1_Missense_Mutation_p.A196T|CD209_uc010dvp.2_Missense_Mutation_p.R295H|CD209_uc002mhr.2_Missense_Mutation_p.A333T|CD209_uc002mhs.2_Missense_Mutation_p.A287T|CD209_uc002mhu.2_Missense_Mutation_p.A265T|CD209_uc010dvq.2_Missense_Mutation_p.A351T|CD209_uc002mhq.2_Missense_Mutation_p.A357T|CD209_uc002mhv.2_Missense_Mutation_p.A333T|CD209_uc002mhx.2_Missense_Mutation_p.A313T|CD209_uc002mhw.2_Missense_Mutation_p.A221T|CD209_uc010dvr.2_Missense_Mutation_p.A121T	0,1,1	1		benign(0.08)	p.A357T	NM_021155	NP_066978	T:0	deleterious(0.04)	0,1,1	CD209_HUMAN	CD209	HGNC	Q9NNX6	CD209_HUMAN			B4E2A8_HUMAN		7	1136	-			UPI000003422C	357			Extracellular (Probable).|C-type lectin.		SNV	CD209,missense_variant,p.Ala357Thr,ENST00000315599,NM_021155.3,NM_001144895.1,NM_001144897.1;CD209,missense_variant,p.Ala221Thr,ENST00000301357,NM_001144894.1;CD209,missense_variant,p.Ala287Thr,ENST00000593660,;CD209,missense_variant,p.Ala333Thr,ENST00000601951,;CD209,missense_variant,p.Ala196Thr,ENST00000394173,NM_001144899.1;CD209,missense_variant,p.Ala351Thr,ENST00000354397,;CD209,missense_variant,p.Ala333Thr,ENST00000315591,NM_001144896.1;CD209,missense_variant,p.Ala313Thr,ENST00000204801,;CD209,missense_variant,p.Arg295His,ENST00000601256,;CD209,missense_variant,p.Ala265Thr,ENST00000602261,;CD209,missense_variant,p.Ala221Thr,ENST00000593821,NM_001144893.1;CD209,missense_variant,p.Ala121Thr,ENST00000394161,;	uc002mht.2	c.1069G>A	1092/4280	2	2			c.1069G>A						19	SNP	c.(1069-1071)GCG>ACG	34	34			skin(1)	1	Broad	CD209 molecule isoform 1			7808071		0.527	ENSG00000090659	2928	g.chr19:7808071C>T	cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding							587.325433	KEEP	142	124	-1	222	233	142	124	-1	594.550576	222	233	0.376164	1	0	0	0	0	1	0	0	0	--	--		0	T			CD209_uc010xju.1_Missense_Mutation_p.A196T|CD209_uc010dvp.2_Missense_Mutation_p.R295H|CD209_uc002mhr.2_Missense_Mutation_p.A333T|CD209_uc002mhs.2_Missense_Mutation_p.A287T|CD209_uc002mhu.2_Missense_Mutation_p.A265T|CD209_uc010dvq.2_Missense_Mutation_p.A351T|CD209_uc002mhq.2_Missense_Mutation_p.A357T|CD209_uc002mhv.2_Missense_Mutation_p.A333T|CD209_uc002mhx.2_Missense_Mutation_p.A313T|CD209_uc002mhw.2_Missense_Mutation_p.A221T|CD209_uc010dvr.2_Missense_Mutation_p.A121T	168	GBM-19-4068-TP	p.A357T	C	CTAAATTCCGCGCAGTCTTCC	NM_021155	NP_066978	7808071	Q9NNX6	CD209_HUMAN	0			7	1136	-	T	T			Missense_Mutation	357			Extracellular (Probable).|C-type lectin.			
CD22	933	broad.mit.edu	GRCh37	19	35832284	35832285	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0216-01	TCGA-06-0216-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000085219.5:c.1549dup	p.Ser517PhefsTer14	p.S517Ffs*14	ENST00000085219	NM_001771.3	516	ctt/cTtt	0			1			T	L/LX	uc010edt.2	protein_coding	YES	CCDS12457.1			1546-1547/2544									ovary(5)|lung(3)|breast(1)	9	c.(1546-1548)CTTfs			PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF39,SMART_domains:SM00409,Superfamily_domains:SSF48726	CD22 molecule precursor	OspA lipoprotein(DB00045)			ENSP00000085219		14-Aug										14-Aug	.		ENST00000085219	Transcript			cell adhesion		protein binding|sugar binding	ENSG00000012124	g.chr19:35832284_35832285insT	1643	3		HIGH								--	--	1																																		CD22_uc010xst.1_Frame_Shift_Ins_p.L344fs|CD22_uc010edu.2_Frame_Shift_Ins_p.L428fs|CD22_uc010edv.2_Frame_Shift_Ins_p.L516fs|CD22_uc002nzb.3_Frame_Shift_Ins_p.L339fs|CD22_uc010edx.2_RNA		1			p.L516fs	NM_001771	NP_001762				CD22_HUMAN	CD22	HGNC	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Q0EAF5_HUMAN,Q9UQB2_HUMAN,Q9UQB1_HUMAN,M0R3H1_HUMAN,M0R2M0_HUMAN,M0R1M2_HUMAN,M0QYP4_HUMAN		8	1623_1624	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		UPI000012733D	516			Extracellular (Potential).|Ig-like C2-type 5.		insertion	CD22,frameshift_variant,p.Ser517PhefsTer14,ENST00000085219,NM_001771.3;CD22,frameshift_variant,p.Ser397PhefsTer14,ENST00000270311,NM_001185100.1;CD22,frameshift_variant,p.Ser429PhefsTer14,ENST00000536635,NM_001185099.1;CD22,frameshift_variant,p.Ser340PhefsTer14,ENST00000341773,NM_001185101.1;CD22,frameshift_variant,p.Ser517PhefsTer14,ENST00000544992,;CD22,frameshift_variant,p.Ser345PhefsTer14,ENST00000419549,NM_001278417.1;CD22,frameshift_variant,p.Ser340PhefsTer14,ENST00000594250,;CD22,downstream_gene_variant,,ENST00000599811,;CD22,downstream_gene_variant,,ENST00000600424,;MIR5196,upstream_gene_variant,,ENST00000578146,;CD22,non_coding_transcript_exon_variant,,ENST00000598815,;CD22,downstream_gene_variant,,ENST00000597433,;CD22,downstream_gene_variant,,ENST00000598028,;CD22,downstream_gene_variant,,ENST00000601732,;CD22,downstream_gene_variant,,ENST00000601329,;CD22,3_prime_UTR_variant,,ENST00000601769,;CD22,non_coding_transcript_exon_variant,,ENST00000600655,;CD22,non_coding_transcript_exon_variant,,ENST00000602123,;CD22,intron_variant,,ENST00000594125,;CD22,downstream_gene_variant,,ENST00000594349,;CD22,upstream_gene_variant,,ENST00000593704,;	uc010edt.2	c.1546_1547insT	1612-1613/3268	5	5			c.1546_1547insT						19	INS	c.(1546-1548)CTTfs	3	3			ovary(5)|lung(3)|breast(1)	9	Broad	CD22 molecule precursor		OspA lipoprotein(DB00045)	35832285		0.574	ENSG00000012124	2929	g.chr19:35832284_35832285insT	cell adhesion		protein binding|sugar binding	Ovarian(42;1009 1133 23674 26041)			Ovarian(42;1009 1133 23674 26041)																0.45	1	0	0	1	1	0	0	0	0	--	--		0	T			CD22_uc010xst.1_Frame_Shift_Ins_p.L344fs|CD22_uc010edu.2_Frame_Shift_Ins_p.L428fs|CD22_uc010edv.2_Frame_Shift_Ins_p.L516fs|CD22_uc002nzb.3_Frame_Shift_Ins_p.L339fs|CD22_uc010edx.2_RNA	51	GBM-06-0216-TP	p.L516fs	-	AATCAAGCCCCTTTCCGAGATT	NM_001771	NP_001762	35832284	P20273	CD22_HUMAN	0	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		8	1623_1624	+	T	T	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Frame_Shift_Ins	516			Extracellular (Potential).|Ig-like C2-type 5.			
CD22	0	broad.mit.edu	GRCh37	19	35828889	35828889	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6282-01	TCGA-76-6282-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000085219.5:c.950C>T	p.Pro317Leu	p.P317L	ENST00000085219	NM_001771.3	317	cCg/cTg	0			1			T	P/L	uc010edt.2	protein_coding	YES	CCDS12457.1			950/2544									ovary(5)|lung(3)|breast(1)	9	c.(949-951)CCG>CTG			PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF39,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	CD22 molecule precursor	OspA lipoprotein(DB00045)			ENSP00000085219		14-May	4.94E-05				0.000154	7.58E-05			rs756739741,COSM1726299	14-May	.		ENST00000085219	Transcript			cell adhesion		protein binding|sugar binding	ENSG00000012124	g.chr19:35828889C>T	1643			MODERATE		0.52	neutral	getma.org/?cm=msa&ty=f&p=CD22_HUMAN&rb=243&re=327&var=P317L	getma.org/pdb.php?prot=CD22_HUMAN&from=243&to=327&var=P317L	getma.org/?cm=var&var=hg19,19,35828889,C,T&fts=all	P317L	--	--	1																																		CD22_uc010xst.1_Missense_Mutation_p.P145L|CD22_uc010edu.2_Missense_Mutation_p.P317L|CD22_uc010edv.2_Missense_Mutation_p.P317L|CD22_uc002nzb.3_Intron|CD22_uc010edx.2_RNA	0,1	1		benign(0.006)	p.P317L	NM_001771	NP_001762		tolerated(0.35)	0,1	CD22_HUMAN	CD22	HGNC	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Q0EAF5_HUMAN,Q9UQB2_HUMAN,Q9UQB1_HUMAN,M0R3H1_HUMAN,M0R2M0_HUMAN,M0R1M2_HUMAN,M0QYP4_HUMAN		5	1027	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		UPI000012733D	317			Extracellular (Potential).|Ig-like C2-type 2.		SNV	CD22,missense_variant,p.Pro317Leu,ENST00000085219,NM_001771.3;CD22,missense_variant,p.Pro197Leu,ENST00000270311,NM_001185100.1;CD22,missense_variant,p.Pro317Leu,ENST00000536635,NM_001185099.1;CD22,missense_variant,p.Pro317Leu,ENST00000544992,;CD22,missense_variant,p.Pro145Leu,ENST00000419549,NM_001278417.1;CD22,intron_variant,,ENST00000341773,NM_001185101.1;CD22,intron_variant,,ENST00000594250,;CD22,intron_variant,,ENST00000599811,;CD22,intron_variant,,ENST00000600424,;CD22,downstream_gene_variant,,ENST00000593867,;CD22,downstream_gene_variant,,ENST00000600131,;CD22,downstream_gene_variant,,ENST00000597916,;CD22,non_coding_transcript_exon_variant,,ENST00000601329,;CD22,intron_variant,,ENST00000598815,;CD22,intron_variant,,ENST00000597433,;CD22,downstream_gene_variant,,ENST00000598138,;CD22,downstream_gene_variant,,ENST00000598028,;CD22,downstream_gene_variant,,ENST00000601414,;CD22,downstream_gene_variant,,ENST00000601732,;CD22,downstream_gene_variant,,ENST00000600905,;CD22,3_prime_UTR_variant,,ENST00000601769,;CD22,3_prime_UTR_variant,,ENST00000594349,;CD22,intron_variant,,ENST00000600655,;CD22,downstream_gene_variant,,ENST00000596492,;CD22,upstream_gene_variant,,ENST00000594125,;CD22,downstream_gene_variant,,ENST00000602224,;CD22,upstream_gene_variant,,ENST00000602123,;CD22,downstream_gene_variant,,ENST00000599717,;	uc010edt.2	c.950C>T	1016/3268	2	2			c.950C>T						19	SNP	c.(949-951)CCG>CTG	44	44			ovary(5)|lung(3)|breast(1)	9	Broad	CD22 molecule precursor		OspA lipoprotein(DB00045)	35828889		0.602	ENSG00000012124	2929	g.chr19:35828889C>T	cell adhesion		protein binding|sugar binding	Ovarian(42;1009 1133 23674 26041)			Ovarian(42;1009 1133 23674 26041)			14.835098	KEEP	2	4	-1	10	16	2	4	-1	17.142876	10	16	0.206897	1	0	0	0	0	1	0	0	0	--	--		0	T			CD22_uc010xst.1_Missense_Mutation_p.P145L|CD22_uc010edu.2_Missense_Mutation_p.P317L|CD22_uc010edv.2_Missense_Mutation_p.P317L|CD22_uc002nzb.3_Intron|CD22_uc010edx.2_RNA	278	GBM-76-6282-TP	p.P317L	C	GACGTGGGCCCGGGAAGGTCG	NM_001771	NP_001762	35828889	P20273	CD22_HUMAN	0	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		5	1027	+	T	T	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Missense_Mutation	317			Extracellular (Potential).|Ig-like C2-type 2.			
CD22	933		GRCh37	19	35837131	35837131	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000085219.5:c.2405G>A	p.Arg802His	p.R802H	ENST00000085219	NM_001771.3	802	cGc/cAc	0																																																																																																																																																																																																																																												
CD244	0	broad.mit.edu	GRCh37	1	160811483	160811483	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-6700-01	TCGA-06-6700-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368033.3:c.270G>C	p.Leu90Phe	p.L90F	ENST00000368033		90	ttG/ttC	0			1			G	L/F	uc009wtq.2	protein_coding	YES	CCDS53399.1			270/1113									ovary(1)	1	c.(268-270)TTG>TTC			Gene3D:2.60.40.10,Pfam_domain:PF11465,hmmpanther:PTHR12080,hmmpanther:PTHR12080:SF3,Superfamily_domains:SSF48726	CD244 natural killer cell receptor 2B4				ENSP00000357012		9-Feb									COSM3399906,COSM3399907,COSM3399905	9-Feb	.		ENST00000368033	Transcript			blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	ENSG00000122223	g.chr1:160811483C>G	18171			MODERATE		-0.17	neutral	getma.org/?cm=msa&ty=f&p=CD244_HUMAN&rb=22&re=127&var=L90F	getma.org/pdb.php?prot=CD244_HUMAN&from=22&to=127&var=L90F	getma.org/?cm=var&var=hg19,1,160811483,C,G&fts=all	L90F	--	--	1																																		CD244_uc001fxa.2_Missense_Mutation_p.L90F|CD244_uc009wtp.2_RNA|CD244_uc009wtr.2_Missense_Mutation_p.L90F|CD244_uc010pjt.1_RNA	1,1,1	1		benign(0.077)	p.L90F	NM_016382	NP_057466		tolerated(0.37)	1,1,1	CD244_HUMAN	CD244	HGNC	Q9BZW8	CD244_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)				2	448	-	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		UPI0000367808	90			Extracellular (Potential).|Ig-like 1.		SNV	CD244,missense_variant,p.Leu90Phe,ENST00000368034,NM_001166663.1,NM_001166664.1,NM_016382.3;CD244,missense_variant,p.Leu90Phe,ENST00000368033,;CD244,missense_variant,p.Leu90Phe,ENST00000368032,;CD244,missense_variant,p.Leu90Phe,ENST00000322302,;CD244,upstream_gene_variant,,ENST00000481677,;CD244,missense_variant,p.Leu90Phe,ENST00000492063,;	uc009wtq.2	c.270G>C	353/1360	3	3			c.270G>C						1	SNP	c.(268-270)TTG>TTC	16	16			ovary(1)	1	Broad	CD244 natural killer cell receptor 2B4			160811483		0.448	ENSG00000122223	2931	g.chr1:160811483C>G	blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity							87.962767	KEEP	16	13	-1	20	21	16	13	-1	88.396307	20	21	0.409836	1	0	0	0	0	1	0	0	0	--	--		0	G			CD244_uc001fxa.2_Missense_Mutation_p.L90F|CD244_uc009wtp.2_RNA|CD244_uc009wtr.2_Missense_Mutation_p.L90F|CD244_uc010pjt.1_RNA	114	GBM-06-6700-TP	p.L90F	C	TGAGAAGACTCAAGTTCTTGA	NM_016382	NP_057466	160811483	Q9BZW8	CD244_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.00737)		2	448	-	G	G	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		Missense_Mutation	90			Extracellular (Potential).|Ig-like 1.			
CD248	57124	broad.mit.edu	GRCh37	11	66084085	66084085	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311330.3:c.414C>T	p.Gly138=	p.G138=	ENST00000311330	NM_020404.2	138	ggC/ggT	0	A:0.0002		1			A	G	uc001ohm.1	protein_coding	YES	CCDS8134.1			414/2274									large_intestine(3)	3	c.(412-414)GGC>GGT			PROSITE_profiles:PS50041,hmmpanther:PTHR24838:SF269,hmmpanther:PTHR24838,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436	tumor endothelial marker 1 precursor	Cefalotin(DB00456)		A:0	ENSP00000308117		1-Jan									rs375088730,COSM2149344	1-Jan	.		ENST00000311330	Transcript				integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	ENSG00000174807	g.chr11:66084085G>A	18219			LOW								--	--	1																																			0,1	1			p.G138G	NM_020404	NP_065137			0,1	CD248_HUMAN	CD248	HGNC	Q9HCU0	CD248_HUMAN					1	431	-			UPI0000049803	138			C-type lectin.|Extracellular (Potential).		SNV	CD248,synonymous_variant,p.=,ENST00000311330,NM_020404.2;RP11-867G23.13,intron_variant,,ENST00000534065,;	uc001ohm.1	c.414C>T	431/2558	2	2			c.414C>T						11	SNP	c.(412-414)GGC>GGT	24	24			large_intestine(3)	3	Broad	tumor endothelial marker 1 precursor		Cefalotin(DB00456)	66084085		0.706	ENSG00000174807	2933	g.chr11:66084085G>A		integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding							41.647306	KEEP	3	13	-1	9	12	3	13	-1	41.71029	9	12	0.451613	1	0	0	0	0	0	0	1	0	--	--		0	A				12	GBM-06-0125-TP	p.G138G	G	AGCGGTGCTCGCCACTTGCCT	NM_020404	NP_065137	66084085	Q9HCU0	CD248_HUMAN	0			1	431	-	A	A			Silent	138			C-type lectin.|Extracellular (Potential).			
CD248	57124	broad.mit.edu	GRCh37	11	66084227	66084228	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C			TCGA-06-0174-01	TCGA-06-0174-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311330.3:c.271dup	p.Ala91GlyfsTer80	p.A91Gfs*80	ENST00000311330	NM_020404.2	91	gcc/gGcc	0			1			C	A/GX	uc001ohm.1	protein_coding	YES	CCDS8134.1			271-272/2274									large_intestine(3)	3	c.(271-273)GCCfs			Low_complexity_(Seg):seg,PROSITE_profiles:PS50041,hmmpanther:PTHR24838:SF269,hmmpanther:PTHR24838,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436	tumor endothelial marker 1 precursor	Cefalotin(DB00456)			ENSP00000308117		1-Jan										1-Jan	.		ENST00000311330	Transcript				integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	ENSG00000174807	g.chr11:66084227_66084228insC	18219			HIGH								--	--	1																																				1			p.A91fs	NM_020404	NP_065137				CD248_HUMAN	CD248	HGNC	Q9HCU0	CD248_HUMAN					1	288_289	-			UPI0000049803	91			C-type lectin.|Extracellular (Potential).		insertion	CD248,frameshift_variant,p.Ala91GlyfsTer80,ENST00000311330,NM_020404.2;RP11-867G23.13,intron_variant,,ENST00000534065,;	uc001ohm.1	c.271_272insG	288-289/2558	5	5			c.271_272insG						11	INS	c.(271-273)GCCfs	9	9			large_intestine(3)	3	Broad	tumor endothelial marker 1 precursor		Cefalotin(DB00456)	66084228		0.723	ENSG00000174807	2933	g.chr11:66084227_66084228insC		integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding																				0.16	1	0	0	1	1	0	0	0	0	--	--		0	C				37	GBM-06-0174-TP	p.A91fs	-	GCATTGCCGGGCCTGCCGCTGC	NM_020404	NP_065137	66084227	Q9HCU0	CD248_HUMAN	0			1	288_289	-	C	C			Frame_Shift_Ins	91			C-type lectin.|Extracellular (Potential).			
CD248	57124	broad.mit.edu	GRCh37	11	66082764	66082764	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01	TCGA-06-0214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311330.3:c.1735G>A	p.Ala579Thr	p.A579T	ENST00000311330	NM_020404.2	579	Gcc/Acc	0			1			T	A/T	uc001ohm.1	protein_coding	YES	CCDS8134.1			1735/2274									large_intestine(3)	3	c.(1735-1737)GCC>ACC			hmmpanther:PTHR24838:SF269,hmmpanther:PTHR24838	tumor endothelial marker 1 precursor	Cefalotin(DB00456)			ENSP00000308117		1-Jan									COSM3398056	1-Jan	.		ENST00000311330	Transcript				integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	ENSG00000174807	g.chr11:66082764C>T	18219			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=CD248_HUMAN&rb=524&re=723&var=A579T	NA	getma.org/?cm=var&var=hg19,11,66082764,C,T&fts=all	A579T	--	--	1																																			1	1		benign(0.007)	p.A579T	NM_020404	NP_065137		tolerated(0.59)	1	CD248_HUMAN	CD248	HGNC	Q9HCU0	CD248_HUMAN					1	1752	-			UPI0000049803	579			Pro-rich.|Extracellular (Potential).		SNV	CD248,missense_variant,p.Ala579Thr,ENST00000311330,NM_020404.2;RP11-867G23.13,intron_variant,,ENST00000534065,;	uc001ohm.1	c.1735G>A	1752/2558	2	2			c.1735G>A						11	SNP	c.(1735-1737)GCC>ACC	44	44			large_intestine(3)	3	Broad	tumor endothelial marker 1 precursor		Cefalotin(DB00456)	66082764		0.612	ENSG00000174807	2933	g.chr11:66082764C>T		integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding							217.192935	KEEP	43	52	-1	90	82	43	52	-1	222.39004	90	82	0.340517	1	0	0	0	0	1	0	0	0	--	--		0	T				50	GBM-06-0214-TP	p.A579T	C	AGCTGGGTGGCCTGGGTTCTG	NM_020404	NP_065137	66082764	Q9HCU0	CD248_HUMAN	0			1	1752	-	T	T			Missense_Mutation	579			Pro-rich.|Extracellular (Potential).			
CD276	0	broad.mit.edu	GRCh37	15	73994767	73994767	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-41-5651-01	TCGA-41-5651-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318443.5:c.251A>G	p.Asp84Gly	p.D84G	ENST00000318443	NM_001024736.1	84	gAc/gGc	0			1			G	D/G	uc002avv.1	protein_coding	YES	CCDS32288.1			251/1605									skin(1)	1	c.(250-252)GAC>GGC			PROSITE_profiles:PS50835,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	CD276 antigen isoform a				ENSP00000320084		10-Mar									COSM3401909	10-Mar	.		ENST00000318443	Transcript			cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding	ENSG00000103855	g.chr15:73994767A>G	19137			MODERATE		1.83	low	getma.org/?cm=msa&ty=f&p=CD276_HUMAN&rb=28&re=138&var=D84G	getma.org/pdb.php?prot=CD276_HUMAN&from=28&to=138&var=D84G	getma.org/?cm=var&var=hg19,15,73994767,A,G&fts=all	D84G	--	--	1																																		CD276_uc010bjd.1_5'UTR|CD276_uc002avu.1_Missense_Mutation_p.D84G|CD276_uc002avw.1_Missense_Mutation_p.D84G|CD276_uc010ulb.1_Missense_Mutation_p.D30G|CD276_uc002avx.2_5'Flank	1	1		probably_damaging(0.989)	p.D84G	NM_001024736	NP_001019907		deleterious(0)	1	CD276_HUMAN	CD276	HGNC	Q5ZPR3	CD276_HUMAN			H0YN85_HUMAN,H0YLT8_HUMAN,H0YKQ9_HUMAN,H0YK59_HUMAN,H0YK40_HUMAN		3	485	+			UPI0000034C25	84			Ig-like V-type 1.|Extracellular (Potential).		SNV	CD276,missense_variant,p.Asp84Gly,ENST00000318443,NM_001024736.1;CD276,missense_variant,p.Asp84Gly,ENST00000318424,NM_025240.2;CD276,missense_variant,p.Asp84Gly,ENST00000561213,;CD276,missense_variant,p.Asp84Gly,ENST00000564751,;CD276,missense_variant,p.Asp84Gly,ENST00000558689,;CD276,missense_variant,p.Asp84Gly,ENST00000561260,;CD276,missense_variant,p.Asp84Gly,ENST00000560995,;CD276,missense_variant,p.Asp84Gly,ENST00000567189,;CD276,missense_variant,p.Asp84Gly,ENST00000560786,;CD276,missense_variant,p.Asp123Gly,ENST00000563584,;CD276,5_prime_UTR_variant,,ENST00000537340,;CD276,upstream_gene_variant,,ENST00000561176,;CD276,downstream_gene_variant,,ENST00000561416,;CD276,3_prime_UTR_variant,,ENST00000560928,;CD276,3_prime_UTR_variant,,ENST00000567582,;CD276,upstream_gene_variant,,ENST00000559073,;CD276,upstream_gene_variant,,ENST00000557951,;	uc002avv.1	c.251A>G	553/3469	3	3			c.251A>G						15	SNP	c.(250-252)GAC>GGC	59	59			skin(1)	1	Broad	CD276 antigen isoform a			73994767		0.647	ENSG00000103855	2936	g.chr15:73994767A>G	cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding							40.904567	KEEP	4	9	-1	4	3	4	9	-1	41.347194	4	3	0.666667	1	0	0	0	0	1	0	0	0	--	--		0	G			CD276_uc010bjd.1_5'UTR|CD276_uc002avu.1_Missense_Mutation_p.D84G|CD276_uc002avw.1_Missense_Mutation_p.D84G|CD276_uc010ulb.1_Missense_Mutation_p.D30G|CD276_uc002avx.2_5'Flank	258	GBM-41-5651-TP	p.D84G	A	GAGGGCCAGGACCAGGGCAGC	NM_001024736	NP_001019907	73994767	Q5ZPR3	CD276_HUMAN	0			3	485	+	G	G			Missense_Mutation	84			Ig-like V-type 1.|Extracellular (Potential).			
CD28	0	broad.mit.edu	GRCh37	2	204599561	204599561	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01	TCGA-27-1835-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324106.8:c.589C>T	p.Arg197Cys	p.R197C	ENST00000324106	NM_006139.3	197	Cgc/Tgc	0			1			T	R/C	uc002vah.3	protein_coding	YES	CCDS2361.1			589/663										0	c.(589-591)CGC>TGC			hmmpanther:PTHR11494:SF7,hmmpanther:PTHR11494,Prints_domain:PR01717	CD28 antigen precursor				ENSP00000324890		4-Apr									COSM2157254	4-Apr	.		ENST00000324106	Transcript			cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity	ENSG00000178562	g.chr2:204599561C>T	1653			MODERATE		2.555	medium	getma.org/?cm=msa&ty=f&p=CD28_HUMAN&rb=137&re=220&var=R197C	NA	getma.org/?cm=var&var=hg19,2,204599561,C,T&fts=all	R197C	--	--	1																																		CD28_uc010zio.1_RNA|CD28_uc010ftx.2_Missense_Mutation_p.R78C|CD28_uc002vaj.3_RNA	1	1		probably_damaging(0.937)	p.R197C	NM_006139	NP_006130		deleterious(0)	1	CD28_HUMAN	CD28	HGNC	P10747	CD28_HUMAN					4	811	+			UPI0000043F4D	197			Cytoplasmic (Potential).		SNV	CD28,missense_variant,p.Arg197Cys,ENST00000324106,NM_006139.3,NM_001243077.1;CD28,missense_variant,p.Arg113Cys,ENST00000374481,;CD28,missense_variant,p.Arg211Cys,ENST00000458610,;CD28,missense_variant,p.Arg78Cys,ENST00000374478,NM_001243078.1;	uc002vah.3	c.589C>T	738/4812	2	2			c.589C>T						2	SNP	c.(589-591)CGC>TGC	28	28				0	Broad	CD28 antigen precursor			204599561		0.597	ENSG00000178562	2937	g.chr2:204599561C>T	cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity							194.012696	KEEP	39	34	-1	39	35	39	34	-1	194.039535	39	35	0.484615	1	0	0	0	0	1	0	0	0	--	--		0	T			CD28_uc010zio.1_RNA|CD28_uc010ftx.2_Missense_Mutation_p.R78C|CD28_uc002vaj.3_RNA	194	GBM-27-1835-TP	p.R197C	C	CATGACTCCCCGCCGCCCCGG	NM_006139	NP_006130	204599561	P10747	CD28_HUMAN	0			4	811	+	T	T			Missense_Mutation	197			Cytoplasmic (Potential).			
CD2AP	0	broad.mit.edu	GRCh37	6	47547178	47547178	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1456-01	TCGA-14-1456-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359314.5:c.961C>T	p.Pro321Ser	p.P321S	ENST00000359314	NM_012120.2	321	Cca/Tca	0			1			T	P/S	uc003oyw.2	protein_coding	YES	CCDS34472.1			961/1920									ovary(1)|skin(1)	2	c.(961-963)CCA>TCA			Gene3D:2.30.30.40,Pfam_domain:PF00018,Prints_domain:PR00452,PROSITE_profiles:PS50002,hmmpanther:PTHR14167,hmmpanther:PTHR14167:SF23,SMART_domains:SM00326,Superfamily_domains:SSF50044	CD2-associated protein				ENSP00000352264		18-Sep									COSM2155628	18-Sep	.		ENST00000359314	Transcript	1		cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	ENSG00000198087	g.chr6:47547178C>T	14258			MODERATE		4.14	high	getma.org/?cm=msa&ty=f&p=CD2AP_HUMAN&rb=275&re=322&var=P321S	getma.org/pdb.php?prot=CD2AP_HUMAN&from=275&to=322&var=P321S	getma.org/?cm=var&var=hg19,6,47547178,C,T&fts=all	P321S	--	--	1																																			1	1		probably_damaging(1)	p.P321S	NM_012120	NP_036252		deleterious(0)	1	CD2AP_HUMAN	CD2AP	HGNC	Q9Y5K6	CD2AP_HUMAN	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)				9	1417	+			UPI000006F8C1	321			SH3 3.		SNV	CD2AP,missense_variant,p.Pro321Ser,ENST00000359314,NM_012120.2;CD2AP,non_coding_transcript_exon_variant,,ENST00000479857,;CD2AP,non_coding_transcript_exon_variant,,ENST00000463175,;	uc003oyw.2	c.961C>T	1417/5412	2	2			c.961C>T						6	SNP	c.(961-963)CCA>TCA	27	27			ovary(1)|skin(1)	2	Broad	CD2-associated protein			47547178		0.343	ENSG00000198087	2938	g.chr6:47547178C>T	cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton							108.872768	KEEP	22	20	-1	34	46	22	20	-1	110.609638	34	46	0.364486	1	0	0	0	0	1	0	0	0	--	--		0	T				146	GBM-14-1456-TP	p.P321S	C	AGGAGTATTTCCAGACAATTT	NM_012120	NP_036252	47547178	Q9Y5K6	CD2AP_HUMAN	0	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)		9	1417	+	T	T			Missense_Mutation	321			SH3 3.			
CD2AP	0	broad.mit.edu	GRCh37	6	47512403	47512403	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-4157-01	TCGA-14-4157-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359314.5:c.381G>A	p.Leu127=	p.L127=	ENST00000359314	NM_012120.2	127	ctG/ctA	0			1			A	L	uc003oyw.2	protein_coding	YES	CCDS34472.1			381/1920									ovary(1)|skin(1)	2	c.(379-381)CTG>CTA			Gene3D:2.30.30.40,Pfam_domain:PF14604,PROSITE_profiles:PS50002,hmmpanther:PTHR14167,hmmpanther:PTHR14167:SF23,SMART_domains:SM00326,Superfamily_domains:SSF50044	CD2-associated protein				ENSP00000352264		18-Apr	9.88E-05			0.00127		1.50E-05			rs751092419,COSM3411154	18-Apr	common_variant		ENST00000359314	Transcript	1		cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	ENSG00000198087	g.chr6:47512403G>A	14258			LOW								--	--	1																																			0,1	1			p.L127L	NM_012120	NP_036252			0,1	CD2AP_HUMAN	CD2AP	HGNC	Q9Y5K6	CD2AP_HUMAN	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)				4	837	+			UPI000006F8C1	127			SH3 2.|Interaction with ANLN and localization to the midbody.		SNV	CD2AP,synonymous_variant,p.=,ENST00000359314,NM_012120.2;CD2AP,non_coding_transcript_exon_variant,,ENST00000477159,;	uc003oyw.2	c.381G>A	837/5412	1	1			c.381G>A						6	SNP	c.(379-381)CTG>CTA	52	52			ovary(1)|skin(1)	2	Broad	CD2-associated protein			47512403		0.313	ENSG00000198087	2938	g.chr6:47512403G>A	cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton							-29.296939	KEEP	0	3	-1	58	113	0	3	-1	6.54243	58	113	0.021429	1	0	0	0	0	0	0	1	0	--	--		0	A				152	GBM-14-4157-TP	p.L127L	G	AGGATGAACTGGAGCTGAAAG	NM_012120	NP_036252	47512403	Q9Y5K6	CD2AP_HUMAN	0	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)		4	837	+	A	A			Silent	127			SH3 2.|Interaction with ANLN and localization to the midbody.			
CD2BP2	10421	broad.mit.edu	GRCh37	16	30364599	30364599	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305596.3:c.818C>T	p.Ser273Leu	p.S273L	ENST00000305596	NM_006110.2	273	tCg/tTg	0			1			A	S/L	uc002dxr.2	protein_coding	YES	CCDS10675.1			818/1026									ovary(1)	1	c.(817-819)TCG>TTG			hmmpanther:PTHR13138:SF3,hmmpanther:PTHR13138	CD2 antigen (cytoplasmic tail) binding protein				ENSP00000304903		7-Jun	6.59E-05			0.000116		0.000105			rs773718372	7-Jun	.		ENST00000305596	Transcript			assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	ENSG00000169217	g.chr16:30364599G>A	1656			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=CD2B2_HUMAN&rb=201&re=280&var=S273L	NA	getma.org/?cm=var&var=hg19,16,30364599,G,A&fts=all	S273L	--	--	1																																		CD2BP2_uc002dxs.2_Missense_Mutation_p.S273L		1		benign(0.006)	p.S273L	NM_006110	NP_006101		tolerated(0.16)		CD2B2_HUMAN	CD2BP2	HGNC	O95400	CD2B2_HUMAN			Q5QTR6_HUMAN		5	1071	-			UPI000006D625	273					SNV	CD2BP2,missense_variant,p.Ser273Leu,ENST00000305596,NM_006110.2;CD2BP2,missense_variant,p.Ser273Leu,ENST00000569466,NM_001243646.1;TBC1D10B,downstream_gene_variant,,ENST00000409939,NM_015527.3;TBC1D10B,downstream_gene_variant,,ENST00000490703,;RP11-347C12.10,upstream_gene_variant,,ENST00000563252,;TBC1D10B,downstream_gene_variant,,ENST00000478158,;TBC1D10B,downstream_gene_variant,,ENST00000475650,;CD2BP2,downstream_gene_variant,,ENST00000564525,;	uc002dxr.2	c.818C>T	994/3421	2	2			c.818C>T						16	SNP	c.(817-819)TCG>TTG	30	30			ovary(1)	1	Broad	CD2 antigen (cytoplasmic tail) binding protein			30364599		0.572	ENSG00000169217	2939	g.chr16:30364599G>A	assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding							-8.166777	KEEP	6	2	-1	70	46	6	2	-1	14.448512	70	46	0.061947	1	0	0	0	0	1	0	0	0	--	--		0	A			CD2BP2_uc002dxs.2_Missense_Mutation_p.S273L	23	GBM-06-0145-TP	p.S273L	G	ATCTCCCCGCGACTCTGCTTC	NM_006110	NP_006101	30364599	O95400	CD2B2_HUMAN	0			5	1071	-	A	A			Missense_Mutation	273						
CD2BP2	10421		GRCh37	16	30365550	30365552	+	inframe_deletion	In_Frame_Del	DEL	CAT	CAT	-			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000305596.3:c.170_172del	p.Asp57del	p.D57del	ENST00000305596	NM_006110.2	57	gATGgg/ggg	0																																																																																																																																																																																																																																												
CD300A	0	broad.mit.edu	GRCh37	17	72469708	72469709	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-12-0821-01	TCGA-12-0821-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360141.3:c.77dupG	p.Val28ArgfsTer12	p.V28Rfs*12	ENST00000360141	NM_007261.3	25	gcg/gcGg	0			1			G	A/AX	uc002jkv.2	protein_coding	YES	CCDS32720.1			74-75/900									ovary(1)|skin(1)	2	c.(73-75)GCGfs			PROSITE_profiles:PS50835,hmmpanther:PTHR11860:SF40,hmmpanther:PTHR11860,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	leukocyte membrane antigen				ENSP00000353259		7-Feb										7-Feb	.		ENST00000360141	Transcript			cell adhesion	integral to membrane|plasma membrane	receptor activity	ENSG00000167851	g.chr17:72469708_72469709insG	19319	3		HIGH								--	--	1																																		CD300A_uc002jkw.2_Intron|CD300A_uc010dfr.2_Intron|CD300A_uc010dfs.2_Intron		1			p.A25fs	NM_007261	NP_009192				CLM8_HUMAN	CD300A	HGNC	Q9UGN4	CLM8_HUMAN			J3QKQ4_HUMAN		2	395_396	+			UPI0000073EA9	25			Extracellular (Potential).|Ig-like V-type.		insertion	CD300A,frameshift_variant,p.Val28ArgfsTer12,ENST00000360141,NM_007261.3,NM_001256841.1;CD300A,5_prime_UTR_variant,,ENST00000577511,;CD300A,intron_variant,,ENST00000392625,;CD300A,intron_variant,,ENST00000310828,;CD300A,intron_variant,,ENST00000361933,;CD300A,non_coding_transcript_exon_variant,,ENST00000582319,;	uc002jkv.2	c.74_75insG	362-363/1856	5	5			c.74_75insG						17	INS	c.(73-75)GCGfs	30	30			ovary(1)|skin(1)	2	Broad	leukocyte membrane antigen			72469709		0.569	ENSG00000167851	2940	g.chr17:72469708_72469709insG	cell adhesion	integral to membrane|plasma membrane	receptor activity																				0.02	1	0	0	1	1	0	0	0	0	--	--		0	G			CD300A_uc002jkw.2_Intron|CD300A_uc010dfr.2_Intron|CD300A_uc010dfs.2_Intron	123	GBM-12-0821-TP	p.A25fs	-	AGGACCGTGGCGGGCCCCGTGG	NM_007261	NP_009192	72469708	Q9UGN4	CLM8_HUMAN	0			2	395_396	+	G	G			Frame_Shift_Ins	25			Extracellular (Potential).|Ig-like V-type.			
CD300C	0	broad.mit.edu	GRCh37	17	72539125	72539125	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A			TCGA-12-3650-01	TCGA-12-3650-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330793.1:c.402C>T	p.Ala134=	p.A134=	ENST00000330793	NM_006678.4	134	gcC/gcT	0			1			A	A	uc002jky.1	protein_coding	YES	CCDS11701.1			402/675										0	c.(400-402)GCC>GCT			hmmpanther:PTHR11860,hmmpanther:PTHR11860:SF39	CD300C antigen precursor				ENSP00000329507		4-Mar	8.24E-06							6.06E-05	rs764035212,COSM3403194	4-Mar	.		ENST00000330793	Transcript			cellular defense response	integral to plasma membrane	transmembrane receptor activity	ENSG00000167850	g.chr17:72539125G>A	19320			LOW								--	--	1																																			0,1	1			p.A134A	NM_006678	NP_006669			0,1	CLM6_HUMAN	CD300C	HGNC	Q08708	CLM6_HUMAN					3	763	-			UPI0000127BB8	134			Pro-rich.|Extracellular (Potential).		SNV	CD300C,splice_region_variant,p.=,ENST00000330793,NM_006678.4;	uc002jky.1	c.402C>T	763/1517	2	2			c.402C>T						17	SNP	c.(400-402)GCC>GCT	33	33				0	Broad	CD300C antigen precursor			72539125		0.577	ENSG00000167850	2941	g.chr17:72539125G>A	cellular defense response	integral to plasma membrane	transmembrane receptor activity	Esophageal Squamous(66;421 1121 20537 25337 27468)			Esophageal Squamous(66;421 1121 20537 25337 27468)			119.055332	KEEP	21	21	-1	42	37	21	21	-1	120.424436	42	37	0.37963	1	0	0	0	0	0	0	1	0	--	--		0	A				126	GBM-12-3650-TP	p.A134A	G	TGGTCGTCCCGGCTGTGGGTG	NM_006678	NP_006669	72539125	Q08708	CLM6_HUMAN	0			3	763	-	A	A			Silent	134			Pro-rich.|Extracellular (Potential).			
CD300LB	124599		GRCh37	17	72521999	72521999	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000392621.1:c.369G>A	p.Thr123=	p.T123=	ENST00000392621	NM_174892.3	123	acG/acA	0																																																																																																																																																																																																																																												
CD300LD	100131439		GRCh37	17	72576247	72576247	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000375352.1:c.479C>T	p.Pro160Leu	p.P160L	ENST00000375352	NM_001115152.1	160	cCg/cTg	0																																																																																																																																																																																																																																												
CD33	945	broad.mit.edu	GRCh37	19	51728757	51728757	+	synonymous_variant	Silent	SNP	C	C	T	rs141721735		TCGA-06-0876-01	TCGA-06-0876-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262262.4:c.321C>T	p.Asp107=	p.D107=	ENST00000262262	NM_001772.3	107	gaC/gaT	0	T:0.0002		1			T	D	uc002pwa.2	protein_coding	YES	CCDS33084.1			321/1095										0	c.(319-321)GAC>GAT			Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF52,SMART_domains:SM00409,Superfamily_domains:SSF48726	CD33 antigen isoform 1 precursor	Gemtuzumab ozogamicin(DB00056)		T:0.0001	ENSP00000262262		7-Feb	9.06E-05	9.96E-05				4.56E-05		0.00047	rs141721735,COSM2152069	7-Feb	common_variant		ENST00000262262	Transcript			cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	ENSG00000105383	g.chr19:51728757C>T	1659			LOW								--	--	1																																		CD33_uc010eos.1_Silent_p.D107D|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	0,1	1			p.D107D	NM_001772	NP_001763			0,1	CD33_HUMAN	CD33	HGNC	P20138	CD33_HUMAN		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Q546G0_HUMAN		2	361	+		all_neural(266;0.0199)	UPI000013D285	107			Extracellular (Potential).|Ig-like V-type.		SNV	CD33,synonymous_variant,p.=,ENST00000262262,NM_001772.3;CD33,synonymous_variant,p.=,ENST00000391796,NM_001177608.1;CD33,intron_variant,,ENST00000436584,;CD33,intron_variant,,ENST00000421133,NM_001082618.1;CD33,non_coding_transcript_exon_variant,,ENST00000601785,;CD33,upstream_gene_variant,,ENST00000598473,;	uc002pwa.2	c.321C>T	342/1444	2	2			c.321C>T						19	SNP	c.(319-321)GAC>GAT	43	43				0	Broad	CD33 antigen isoform 1 precursor		Gemtuzumab ozogamicin(DB00056)	51728757		0.507	ENSG00000105383	2949	g.chr19:51728757C>T	cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding							172.289375	KEEP	37	19	-1	42	29	37	19	-1	172.503089	42	29	0.455285	1	0	0	0	0	0	0	1	0	--	--		0	T			CD33_uc010eos.1_Silent_p.D107D|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	72	GBM-06-0876-TP	p.D107D	C	GCATCGTAGACGCCAGGAGGA	NM_001772	NP_001763	51728757	P20138	CD33_HUMAN	0		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	2	361	+	T	T		all_neural(266;0.0199)	Silent	107			Extracellular (Potential).|Ig-like V-type.			
CD33	0	broad.mit.edu	GRCh37	19	51728575	51728575	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-26-5134-01	TCGA-26-5134-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262262.4:c.139A>T	p.Ile47Leu	p.I47L	ENST00000262262	NM_001772.3	47	Ata/Tta	0			1			T	I/L	uc002pwa.2	protein_coding	YES	CCDS33084.1			139/1095										0	c.(139-141)ATA>TTA			Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF52,SMART_domains:SM00409,Superfamily_domains:SSF48726	CD33 antigen isoform 1 precursor	Gemtuzumab ozogamicin(DB00056)			ENSP00000262262		7-Feb									COSM2156990	7-Feb	.		ENST00000262262	Transcript			cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	ENSG00000105383	g.chr19:51728575A>T	1659			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=CD33_HUMAN&rb=20&re=139&var=I47L	getma.org/pdb.php?prot=CD33_HUMAN&from=20&to=139&var=I47L	getma.org/?cm=var&var=hg19,19,51728575,A,T&fts=all	I47L	--	--	1																																		CD33_uc010eos.1_Missense_Mutation_p.I47L|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	1	1		benign(0.001)	p.I47L	NM_001772	NP_001763		tolerated(0.49)	1	CD33_HUMAN	CD33	HGNC	P20138	CD33_HUMAN		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Q546G0_HUMAN		2	179	+		all_neural(266;0.0199)	UPI000013D285	47			Extracellular (Potential).|Ig-like V-type.		SNV	CD33,missense_variant,p.Ile47Leu,ENST00000262262,NM_001772.3;CD33,missense_variant,p.Ile47Leu,ENST00000391796,NM_001177608.1;CD33,intron_variant,,ENST00000436584,;CD33,intron_variant,,ENST00000421133,NM_001082618.1;CD33,non_coding_transcript_exon_variant,,ENST00000601785,;CD33,upstream_gene_variant,,ENST00000598473,;	uc002pwa.2	c.139A>T	160/1444	2	2			c.139A>T						19	SNP	c.(139-141)ATA>TTA	48	48				0	Broad	CD33 antigen isoform 1 precursor		Gemtuzumab ozogamicin(DB00056)	51728575		0.532	ENSG00000105383	2949	g.chr19:51728575A>T	cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding							223.776749	KEEP	38	36	-1	56	45	38	36	-1	224.958862	56	45	0.409639	1	0	0	0	0	1	0	0	0	--	--		0	T			CD33_uc010eos.1_Missense_Mutation_p.I47L|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	183	GBM-26-5134-TP	p.I47L	A	CTTCCATCCCATACCCTACTA	NM_001772	NP_001763	51728575	P20138	CD33_HUMAN	0		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	2	179	+	T	T		all_neural(266;0.0199)	Missense_Mutation	47			Extracellular (Potential).|Ig-like V-type.			
CD33	0	broad.mit.edu	GRCh37	19	51742917	51742917	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs148758925	byFrequency;by1000genomes	TCGA-26-5136-01	TCGA-26-5136-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262262.4:c.1069G>A	p.Glu357Lys	p.E357K	ENST00000262262	NM_001772.3	357	Gaa/Aaa	0	A:0.0002	A:0	1	A:0		A	E/K	uc002pwa.2	protein_coding	YES	CCDS33084.1			1069/1095										0	c.(1069-1071)GAA>AAA				CD33 antigen isoform 1 precursor	Gemtuzumab ozogamicin(DB00056)	A:0	A:0.0017	ENSP00000262262	A:0.001	7-Jul	0.00142	9.68E-05	0.00026		0.000908	0.00222		0.000965	rs148758925,COSM3404499	7-Jul	common_variant		ENST00000262262	Transcript		A:0.0002	cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	ENSG00000105383	g.chr19:51742917G>A	1659			MODERATE		2.61	medium	getma.org/?cm=msa&ty=f&p=CD33_HUMAN&rb=215&re=364&var=E357K	NA	getma.org/?cm=var&var=hg19,19,51742917,G,A&fts=all	E357K	--	--	1																																		CD33_uc010eos.1_3'UTR|CD33_uc010eot.1_Missense_Mutation_p.E230K|CD33_uc010eou.1_RNA	0,1	1		benign(0.095)	p.E357K	NM_001772	NP_001763	A:0	deleterious(0.01)	0,1	CD33_HUMAN	CD33	HGNC	P20138	CD33_HUMAN		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Q546G0_HUMAN		7	1109	+		all_neural(266;0.0199)	UPI000013D285	357			ITIM motif 2.|Cytoplasmic (Potential).		SNV	CD33,missense_variant,p.Glu357Lys,ENST00000262262,NM_001772.3;CD33,missense_variant,p.Glu230Lys,ENST00000421133,NM_001082618.1;CD33,downstream_gene_variant,,ENST00000436584,;CD33,downstream_gene_variant,,ENST00000391796,NM_001177608.1;CD33,non_coding_transcript_exon_variant,,ENST00000600557,;CD33,non_coding_transcript_exon_variant,,ENST00000598473,;CD33,non_coding_transcript_exon_variant,,ENST00000601785,;	uc002pwa.2	c.1069G>A	1090/1444	2	2			c.1069G>A						19	SNP	c.(1069-1071)GAA>AAA	43	43				0	Broad	CD33 antigen isoform 1 precursor		Gemtuzumab ozogamicin(DB00056)	51742917		0.527	ENSG00000105383	2949	g.chr19:51742917G>A	cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding							-14.584626	KEEP	2	2	-1	46	57	2	2	-1	7.657656	46	57	0.040816	1	0	0	0	0	1	0	0	0	--	--		0	A			CD33_uc010eos.1_3'UTR|CD33_uc010eot.1_Missense_Mutation_p.E230K|CD33_uc010eou.1_RNA	185	GBM-26-5136-TP	p.E357K	G	CACCTCCACCGAATACTCAGA	NM_001772	NP_001763	51742917	P20138	CD33_HUMAN	0		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	7	1109	+	A	A		all_neural(266;0.0199)	Missense_Mutation	357			ITIM motif 2.|Cytoplasmic (Potential).			
CD33	0	broad.mit.edu	GRCh37	19	51728525	51728525	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1833-01	TCGA-27-1833-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262262.4:c.89C>T	p.Thr30Met	p.T30M	ENST00000262262	NM_001772.3	30	aCg/aTg	0	T:0		1			T	T/M	uc002pwa.2	protein_coding	YES	CCDS33084.1			89/1095										0	c.(88-90)ACG>ATG			Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF52,SMART_domains:SM00409,Superfamily_domains:SSF48726	CD33 antigen isoform 1 precursor	Gemtuzumab ozogamicin(DB00056)		T:0.0003	ENSP00000262262		7-Feb	4.12E-05		8.64E-05			6.00E-05			rs369307221,COSM2755885	7-Feb	.		ENST00000262262	Transcript			cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	ENSG00000105383	g.chr19:51728525C>T	1659			MODERATE		2.51	medium	getma.org/?cm=msa&ty=f&p=CD33_HUMAN&rb=20&re=139&var=T30M	getma.org/pdb.php?prot=CD33_HUMAN&from=20&to=139&var=T30M	getma.org/?cm=var&var=hg19,19,51728525,C,T&fts=all	T30M	--	--	1																																		CD33_uc010eos.1_Missense_Mutation_p.T30M|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	0,1	1		possibly_damaging(0.683)	p.T30M	NM_001772	NP_001763		tolerated(0.17)	0,1	CD33_HUMAN	CD33	HGNC	P20138	CD33_HUMAN		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Q546G0_HUMAN		2	129	+		all_neural(266;0.0199)	UPI000013D285	30			Extracellular (Potential).|Ig-like V-type.		SNV	CD33,missense_variant,p.Thr30Met,ENST00000262262,NM_001772.3;CD33,missense_variant,p.Thr30Met,ENST00000391796,NM_001177608.1;CD33,intron_variant,,ENST00000436584,;CD33,intron_variant,,ENST00000421133,NM_001082618.1;CD33,non_coding_transcript_exon_variant,,ENST00000601785,;CD33,upstream_gene_variant,,ENST00000598473,;	uc002pwa.2	c.89C>T	110/1444	2	2			c.89C>T						19	SNP	c.(88-90)ACG>ATG	30	30				0	Broad	CD33 antigen isoform 1 precursor		Gemtuzumab ozogamicin(DB00056)	51728525		0.582	ENSG00000105383	2949	g.chr19:51728525C>T	cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding							-21.712806	KEEP	5	5	-1	85	86	5	5	-1	13.964823	85	86	0.04375	1	0	0	0	0	1	0	0	0	--	--		0	T			CD33_uc010eos.1_Missense_Mutation_p.T30M|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	192	GBM-27-1833-TP	p.T30M	C	GAGTCAGTGACGGTACAGGAG	NM_001772	NP_001763	51728525	P20138	CD33_HUMAN	0		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	2	129	+	T	T		all_neural(266;0.0199)	Missense_Mutation	30			Extracellular (Potential).|Ig-like V-type.			
CD33	0	broad.mit.edu	GRCh37	19	51729289	51729289	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs150408980	byFrequency	TCGA-28-5209-01	TCGA-28-5209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262262.4:c.649G>A	p.Ala217Thr	p.A217T	ENST00000262262	NM_001772.3	217	Gct/Act	0	A:0.0007	A:0.0015	1	A:0		A	A/T	uc002pwa.2	protein_coding	YES	CCDS33084.1			649/1095										0	c.(649-651)GCT>ACT			Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF52,SMART_domains:SM00409,Superfamily_domains:SSF48726	CD33 antigen isoform 1 precursor	Gemtuzumab ozogamicin(DB00056)	A:0	A:0	ENSP00000262262	A:0	7-Mar	6.59E-05	0.000578						0.000121	rs150408980,COSM3404497	7-Mar	common_variant		ENST00000262262	Transcript		A:0.0006	cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	ENSG00000105383	g.chr19:51729289G>A	1659			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=CD33_HUMAN&rb=145&re=228&var=A217T	getma.org/pdb.php?prot=CD33_HUMAN&from=145&to=228&var=A217T	getma.org/?cm=var&var=hg19,19,51729289,G,A&fts=all	A217T	--	--	1																																		CD33_uc010eos.1_Missense_Mutation_p.A217T|CD33_uc010eot.1_Missense_Mutation_p.A90T|CD33_uc010eou.1_RNA	0,1	1		benign(0.035)	p.A217T	NM_001772	NP_001763	A:0.001	deleterious(0)	0,1	CD33_HUMAN	CD33	HGNC	P20138	CD33_HUMAN		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Q546G0_HUMAN		3	689	+		all_neural(266;0.0199)	UPI000013D285	217			Extracellular (Potential).|Ig-like C2-type.		SNV	CD33,missense_variant,p.Ala90Thr,ENST00000436584,;CD33,missense_variant,p.Ala217Thr,ENST00000262262,NM_001772.3;CD33,missense_variant,p.Ala217Thr,ENST00000391796,NM_001177608.1;CD33,missense_variant,p.Ala90Thr,ENST00000421133,NM_001082618.1;CD33,non_coding_transcript_exon_variant,,ENST00000598473,;CD33,non_coding_transcript_exon_variant,,ENST00000601785,;	uc002pwa.2	c.649G>A	670/1444	2	2			c.649G>A						19	SNP	c.(649-651)GCT>ACT	37	37				0	Broad	CD33 antigen isoform 1 precursor		Gemtuzumab ozogamicin(DB00056)	51729289		0.622	ENSG00000105383	2949	g.chr19:51729289G>A	cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding							123.696757	KEEP	21	32	-1	56	67	21	32	-1	129.640998	56	67	0.29878	1	0	0	0	0	1	0	0	0	--	--		0	A			CD33_uc010eos.1_Missense_Mutation_p.A217T|CD33_uc010eot.1_Missense_Mutation_p.A90T|CD33_uc010eou.1_RNA	218	GBM-28-5209-TP	p.A217T	G	GGTGAAGTTCGCTGGAGCTGG	NM_001772	NP_001763	51729289	P20138	CD33_HUMAN	0		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	3	689	+	A	A		all_neural(266;0.0199)	Missense_Mutation	217			Extracellular (Potential).|Ig-like C2-type.			
CD36	948	broad.mit.edu	GRCh37	7	80290463	80290463	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2565-01	TCGA-06-2565-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000435819.1:c.366C>T	p.Phe122=	p.F122=	ENST00000435819		122	ttC/ttT	0			1			T	F	uc003uhc.2	protein_coding		CCDS34673.1			366/1419									ovary(1)	1	c.(364-366)TTC>TTT			Pfam_domain:PF01130,Prints_domain:PR01609,hmmpanther:PTHR11923,hmmpanther:PTHR11923:SF12	CD36 antigen				ENSP00000308165		14-May	8.24E-06		8.65E-05						rs761063834,COSM2152991,COSM2152989,COSM2152992,COSM2152990	14-May	.		ENST00000309881	Transcript	1		cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding	ENSG00000135218	g.chr7:80290463C>T	1663			LOW								--	--	1																																		CD36_uc003uhd.3_Silent_p.F122F|CD36_uc011kgv.1_Silent_p.F46F|CD36_uc003uhe.3_Silent_p.F122F|CD36_uc003uhf.3_Silent_p.F122F|CD36_uc003uhg.3_Silent_p.F122F|CD36_uc003uhh.3_Silent_p.F122F	0,1,1,1,1				p.F122F	NM_001127444	NP_001120916			0,1,1,1,1	CD36_HUMAN	CD36	HGNC	P16671	CD36_HUMAN			Q9BZN6_HUMAN,Q9BZN2_HUMAN,Q9BZM9_HUMAN,Q9BQA7_HUMAN,E9PLT1_HUMAN,E9PJX8_HUMAN,E9PC45_HUMAN,E7EX47_HUMAN,E7EWI4_HUMAN,E7EU05_HUMAN,E7ERZ9_HUMAN,A4D1B1_HUMAN		8	1050	+			UPI0000000C91	122			Extracellular (Potential).		SNV	CD36,synonymous_variant,p.=,ENST00000435819,;CD36,synonymous_variant,p.=,ENST00000447544,NM_001001548.2;CD36,synonymous_variant,p.=,ENST00000309881,NM_001001547.2;CD36,synonymous_variant,p.=,ENST00000394788,NM_000072.3;CD36,synonymous_variant,p.=,ENST00000432207,NM_001127443.1;CD36,synonymous_variant,p.=,ENST00000534394,;CD36,synonymous_variant,p.=,ENST00000419819,NM_001127444.1;CD36,synonymous_variant,p.=,ENST00000433696,;CD36,synonymous_variant,p.=,ENST00000538969,;CD36,synonymous_variant,p.=,ENST00000544133,;CD36,synonymous_variant,p.=,ENST00000413265,;CD36,synonymous_variant,p.=,ENST00000438020,;CD36,synonymous_variant,p.=,ENST00000426978,;CD36,downstream_gene_variant,,ENST00000482059,;CD36,downstream_gene_variant,,ENST00000428497,;CD36,downstream_gene_variant,,ENST00000436384,;CD36,downstream_gene_variant,,ENST00000441109,;CD36,intron_variant,,ENST00000441034,;CD36,upstream_gene_variant,,ENST00000464213,;AC073850.6,downstream_gene_variant,,ENST00000449243,;	uc003uhc.2	c.366C>T	779/2094	2	2			c.366C>T						7	SNP	c.(364-366)TTC>TTT	48	48			ovary(1)	1	Broad	CD36 antigen			80290463		0.428	ENSG00000135218	2951	g.chr7:80290463C>T	cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding							169.868976	KEEP	39	24	-1	45	55	39	24	-1	171.513505	45	55	0.386207	1	0	0	0	0	0	0	1	0	--	--		0	T			CD36_uc003uhd.3_Silent_p.F122F|CD36_uc011kgv.1_Silent_p.F46F|CD36_uc003uhe.3_Silent_p.F122F|CD36_uc003uhf.3_Silent_p.F122F|CD36_uc003uhg.3_Silent_p.F122F|CD36_uc003uhh.3_Silent_p.F122F	88	GBM-06-2565-TP	p.F122F	C	GTGCCATCTTCGAACCTTCAC	NM_001127444	NP_001120916	80290463	P16671	CD36_HUMAN	0			8	1050	+	T	T			Silent	122			Extracellular (Potential).			
CD36	0	broad.mit.edu	GRCh37	7	80300317	80300317	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309881.7:c.843C>T	p.Ser281=	p.S281=	ENST00000309881	NM_001001547.2	281	tcC/tcT	0	T:0.0002		1			T	S	uc003uhc.2	protein_coding		CCDS34673.1			843/1419									ovary(1)	1	c.(841-843)TCC>TCT			Pfam_domain:PF01130,hmmpanther:PTHR11923,hmmpanther:PTHR11923:SF12	CD36 antigen			T:0	ENSP00000308165		14-Oct	2.47E-05	0.000192				1.50E-05			rs372529585,COSM3412324,COSM3412327,COSM3412325,COSM3412326	14-Oct	.		ENST00000309881	Transcript	1		cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding	ENSG00000135218	g.chr7:80300317C>T	1663			LOW								--	--	1																																		CD36_uc003uhd.3_Silent_p.S281S|CD36_uc011kgv.1_Silent_p.S205S|CD36_uc003uhe.3_Silent_p.S281S|CD36_uc003uhf.3_Silent_p.S281S|CD36_uc003uhg.3_Silent_p.S281S|CD36_uc003uhh.3_Silent_p.S281S	0,1,1,1,1				p.S281S	NM_001127444	NP_001120916			0,1,1,1,1	CD36_HUMAN	CD36	HGNC	P16671	CD36_HUMAN			Q9BZN6_HUMAN,Q9BZN2_HUMAN,Q9BZM9_HUMAN,Q9BQA7_HUMAN,E9PLT1_HUMAN,E9PJX8_HUMAN,E9PC45_HUMAN,E7EX47_HUMAN,E7EWI4_HUMAN,E7EU05_HUMAN,E7ERZ9_HUMAN,A4D1B1_HUMAN		13	1527	+			UPI0000000C91	281			Extracellular (Potential).		SNV	CD36,synonymous_variant,p.=,ENST00000435819,;CD36,synonymous_variant,p.=,ENST00000447544,NM_001001548.2;CD36,synonymous_variant,p.=,ENST00000309881,NM_001001547.2;CD36,synonymous_variant,p.=,ENST00000394788,NM_000072.3;CD36,synonymous_variant,p.=,ENST00000432207,NM_001127443.1;CD36,synonymous_variant,p.=,ENST00000534394,;CD36,synonymous_variant,p.=,ENST00000419819,NM_001127444.1;CD36,synonymous_variant,p.=,ENST00000433696,;CD36,synonymous_variant,p.=,ENST00000538969,;CD36,intron_variant,,ENST00000544133,;CD36,upstream_gene_variant,,ENST00000488048,;CD36,non_coding_transcript_exon_variant,,ENST00000464213,;	uc003uhc.2	c.843C>T	1256/2094	1	1			c.843C>T						7	SNP	c.(841-843)TCC>TCT	4	4			ovary(1)	1	Broad	CD36 antigen			80300317		0.388	ENSG00000135218	2951	g.chr7:80300317C>T	cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding							232.465124	KEEP	53	54	-1	201	221	53	54	-1	271.770888	201	221	0.197397	1	0	0	0	0	0	0	1	0	--	--		0	T			CD36_uc003uhd.3_Silent_p.S281S|CD36_uc011kgv.1_Silent_p.S205S|CD36_uc003uhe.3_Silent_p.S281S|CD36_uc003uhf.3_Silent_p.S281S|CD36_uc003uhg.3_Silent_p.S281S|CD36_uc003uhh.3_Silent_p.S281S	207	GBM-28-1753-TP	p.S281S	C	TATTTGAATCCGACGTTAATC	NM_001127444	NP_001120916	80300317	P16671	CD36_HUMAN	0			13	1527	+	T	T			Silent	281			Extracellular (Potential).			
CD37	951	broad.mit.edu	GRCh37	19	49840274	49840274	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0750-01	TCGA-06-0750-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323906.4:c.251G>A	p.Arg84His	p.R84H	ENST00000323906	NM_001774.2	84	cGc/cAc	0	A:0.0002		1			A	R/H	uc002pnd.2	protein_coding	YES	CCDS12760.1			251/846										0	c.(250-252)CGC>CAC			Low_complexity_(Seg):seg,hmmpanther:PTHR19282:SF185,hmmpanther:PTHR19282,PROSITE_patterns:PS00421,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,Prints_domain:PR00259	CD37 antigen isoform A			A:0	ENSP00000325708		8-Mar	6.59E-05	9.62E-05				0.000105			rs375511347,COSM3404447,COSM3404448	8-Mar	.		ENST00000323906	Transcript				integral to membrane		ENSG00000104894	g.chr19:49840274G>A	1666			MODERATE		2.28	medium	getma.org/?cm=msa&ty=f&p=CD37_HUMAN&rb=10&re=270&var=R84H	NA	getma.org/?cm=var&var=hg19,19,49840274,G,A&fts=all	R84H	--	--	1																																		uc002pnb.1_Intron|CD37_uc002pnc.2_RNA|CD37_uc010yam.1_Missense_Mutation_p.R84H|CD37_uc010yan.1_Missense_Mutation_p.R16H|CD37_uc002pnf.3_Missense_Mutation_p.R56H|CD37_uc002pne.2_Missense_Mutation_p.R16H	0,1,1	1		benign(0.08)	p.R84H	NM_001774	NP_001765		deleterious(0.02)	0,1,1	CD37_HUMAN	CD37	HGNC	P11049	CD37_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)	M0R083_HUMAN		3	372	+		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	UPI0000127350	84			Cytoplasmic (Potential).		SNV	CD37,missense_variant,p.Arg84His,ENST00000535669,;CD37,missense_variant,p.Arg16His,ENST00000598095,;CD37,missense_variant,p.Arg84His,ENST00000323906,NM_001774.2;CD37,missense_variant,p.Arg16His,ENST00000426897,NM_001040031.1;CD37,missense_variant,p.Arg132His,ENST00000595660,;CD37,missense_variant,p.Arg16His,ENST00000597602,;TEAD2,downstream_gene_variant,,ENST00000377214,;TEAD2,downstream_gene_variant,,ENST00000598810,NM_001256661.1;TEAD2,downstream_gene_variant,,ENST00000601519,NM_001256658.1;TEAD2,downstream_gene_variant,,ENST00000311227,NM_001256659.1,NM_003598.1;TEAD2,downstream_gene_variant,,ENST00000593945,NM_001256660.1;TEAD2,downstream_gene_variant,,ENST00000539846,NM_001256662.1;CD37,upstream_gene_variant,,ENST00000594743,;CTC-301O7.4,intron_variant,,ENST00000358234,;CTC-301O7.4,intron_variant,,ENST00000602554,;CTC-301O7.4,downstream_gene_variant,,ENST00000602721,;CD37,non_coding_transcript_exon_variant,,ENST00000596426,;CD37,non_coding_transcript_exon_variant,,ENST00000597033,;CD37,upstream_gene_variant,,ENST00000600121,;CD37,missense_variant,p.Arg84His,ENST00000391859,;CD37,missense_variant,p.Ala83Thr,ENST00000595725,;CD37,non_coding_transcript_exon_variant,,ENST00000597852,;CD37,non_coding_transcript_exon_variant,,ENST00000593512,;CD37,non_coding_transcript_exon_variant,,ENST00000598134,;	uc002pnd.2	c.251G>A	392/1265	1	1			c.251G>A						19	SNP	c.(250-252)CGC>CAC	61	61				0	Broad	CD37 antigen isoform A			49840274		0.622	ENSG00000104894	2952	g.chr19:49840274G>A		integral to membrane								-7.844046	KEEP	3	5	-1	55	61	3	5	-1	14.478102	55	61	0.0625	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002pnb.1_Intron|CD37_uc002pnc.2_RNA|CD37_uc010yam.1_Missense_Mutation_p.R84H|CD37_uc010yan.1_Missense_Mutation_p.R16H|CD37_uc002pnf.3_Missense_Mutation_p.R56H|CD37_uc002pne.2_Missense_Mutation_p.R16H	70	GBM-06-0750-TP	p.R84H	G	AAGGAGCTCCGCTGCCTCCTG	NM_001774	NP_001765	49840274	P11049	CD37_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)	3	372	+	A	A		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	Missense_Mutation	84			Cytoplasmic (Potential).			
CD38	0	broad.mit.edu	GRCh37	4	15835885	15835885	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-16-0846-01	TCGA-16-0846-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000226279.3:c.545A>G	p.Asn182Ser	p.N182S	ENST00000226279	NM_001775.2	182	aAc/aGc	0			1			G	N/S	uc011bxc.1	protein_coding	YES	CCDS3417.1			545/903									ovary(2)	2	c.(544-546)AAC>AGC			hmmpanther:PTHR10912,hmmpanther:PTHR10912:SF5,Pfam_domain:PF02267,Gene3D:1.20.82.10,Superfamily_domains:SSF52309	CD38 antigen				ENSP00000226279		8-Apr									COSM3409129	8-Apr	.		ENST00000226279	Transcript			B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity	ENSG00000004468	g.chr4:15835885A>G	1667			MODERATE		0.715	neutral	getma.org/?cm=msa&ty=f&p=CD38_HUMAN&rb=56&re=296&var=N182S	getma.org/pdb.php?prot=CD38_HUMAN&from=56&to=296&var=N182S	getma.org/?cm=var&var=hg19,4,15835885,A,G&fts=all	N182S	--	--	1																																		CD38_uc003gol.1_Missense_Mutation_p.N182S	1	1		benign(0.01)	p.N182S	NM_001775	NP_001766		tolerated(0.49)	1	CD38_HUMAN	CD38	HGNC	P28907	CD38_HUMAN			Q4FCX6_HUMAN,B4DMR7_HUMAN		4	652	+			UPI00000739C2	182			Extracellular (Potential).		SNV	CD38,missense_variant,p.Asn182Ser,ENST00000226279,NM_001775.2;CD38,missense_variant,p.Asn70Ser,ENST00000510674,;CD38,3_prime_UTR_variant,,ENST00000502843,;	uc011bxc.1	c.545A>G	682/5668	3	3			c.545A>G						4	SNP	c.(544-546)AAC>AGC	57	57			ovary(2)	2	Broad	CD38 antigen			15835885		0.388	ENSG00000004468	2953	g.chr4:15835885A>G	B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity							-18.840138	KEEP	4	3	-1	95	62	4	3	-1	12.501063	95	62	0.037037	1	0	0	0	0	1	0	0	0	--	--		0	G			CD38_uc003gol.1_Missense_Mutation_p.N182S	155	GBM-16-0846-TP	p.N182S	A	GACTGCAGCAACAACCCTGTT	NM_001775	NP_001766	15835885	P28907	CD38_HUMAN	0			4	652	+	G	G			Missense_Mutation	182			Extracellular (Potential).			
CD3E	0	broad.mit.edu	GRCh37	11	118184559	118184559	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-19-2625-01	TCGA-19-2625-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361763.4:c.490C>T	p.Arg164Ter	p.R164*	ENST00000361763	NM_000733.3	164	Cga/Tga	0	G:0		1			T	R/*	uc001psq.3	protein_coding	YES	CCDS31685.1			490/624									ovary(2)	2	c.(490-492)CGA>TGA			Low_complexity_(Seg):seg,hmmpanther:PTHR10570,hmmpanther:PTHR10570:SF7	CD3E antigen, epsilon polypeptide precursor	Muromonab(DB00075)		G:0.0001	ENSP00000354566		9-Jul	8.24E-06					1.50E-05			rs201840561,COSM2105209	9-Jul	.		ENST00000361763	Transcript	1		G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity	ENSG00000198851	g.chr11:118184559C>T	1674			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,11,118184559,C,T&fts=all	R164*	--	--	1																																			0,1	1			p.R164*	NM_000733	NP_000724			0,1	CD3E_HUMAN	CD3E	HGNC	P07766	CD3E_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	A0N2Z5_HUMAN		7	746	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	UPI000012735C	164			Cytoplasmic (Potential).		SNV	CD3E,stop_gained,p.Arg164Ter,ENST00000361763,NM_000733.3;CD3E,stop_gained,p.Arg158Ter,ENST00000528600,;CD3E,non_coding_transcript_exon_variant,,ENST00000526146,;CD3E,non_coding_transcript_exon_variant,,ENST00000531913,;CD3E,downstream_gene_variant,,ENST00000528435,;CD3E,downstream_gene_variant,,ENST00000529713,;	uc001psq.3	c.490C>T	781/1548	5	1			c.490C>T						11	SNP	c.(490-492)CGA>TGA	4	4			ovary(2)	2	Broad	CD3E antigen, epsilon polypeptide precursor		Muromonab(DB00075)	118184559		0.597	ENSG00000198851	2955	g.chr11:118184559C>T	G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity							41.272286	KEEP	10	11	-1	33	34	10	11	-1	44.731967	33	34	0.253968	1	0	0	0	0	0	1	0	0	--	--		0	T				165	GBM-19-2625-TP	p.R164*	C	GCCTGTGACACGAGGAGCGGG	NM_000733	NP_000724	118184559	P07766	CD3E_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	7	746	+	T	T	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	Nonsense_Mutation	164			Cytoplasmic (Potential).			
CD3E	0	broad.mit.edu	GRCh37	11	118183512	118183512	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-5951-01	TCGA-19-5951-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361763.4:c.283T>C	p.Tyr95His	p.Y95H	ENST00000361763	NM_000733.3	95	Tat/Cat	0			1			C	Y/H	uc001psq.3	protein_coding	YES	CCDS31685.1			283/624									ovary(2)	2	c.(283-285)TAT>CAT			hmmpanther:PTHR10570,hmmpanther:PTHR10570:SF7,Gene3D:2.60.40.10,SMART_domains:SM00408,Superfamily_domains:SSF48726	CD3E antigen, epsilon polypeptide precursor	Muromonab(DB00075)			ENSP00000354566		9-Jun									COSM2156672	9-Jun	.		ENST00000361763	Transcript	1		G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity	ENSG00000198851	g.chr11:118183512T>C	1674			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=CD3E_HUMAN&rb=32&re=112&var=Y95H	getma.org/pdb.php?prot=CD3E_HUMAN&from=32&to=112&var=Y95H	getma.org/?cm=var&var=hg19,11,118183512,T,C&fts=all	Y95H	--	--	1																																		CD3E_uc010rya.1_Missense_Mutation_p.Y95H	1	1		benign(0.067)	p.Y95H	NM_000733	NP_000724		tolerated(0.32)	1	CD3E_HUMAN	CD3E	HGNC	P07766	CD3E_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	A0N2Z5_HUMAN		6	539	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	UPI000012735C	95			Extracellular (Potential).|Ig-like.		SNV	CD3E,missense_variant,p.Tyr95His,ENST00000361763,NM_000733.3;CD3E,missense_variant,p.Tyr89His,ENST00000528600,;CD3E,non_coding_transcript_exon_variant,,ENST00000526146,;CD3E,non_coding_transcript_exon_variant,,ENST00000531913,;CD3E,non_coding_transcript_exon_variant,,ENST00000528435,;CD3E,non_coding_transcript_exon_variant,,ENST00000529713,;	uc001psq.3	c.283T>C	574/1548	3	3			c.283T>C						11	SNP	c.(283-285)TAT>CAT	1	1			ovary(2)	2	Broad	CD3E antigen, epsilon polypeptide precursor		Muromonab(DB00075)	118183512		0.443	ENSG00000198851	2955	g.chr11:118183512T>C	G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity							167.415123	KEEP	31	21	-1	37	28	31	21	-1	167.758421	37	28	0.439252	1	0	0	0	0	1	0	0	0	--	--		0	C			CD3E_uc010rya.1_Missense_Mutation_p.Y95H	171	GBM-19-5951-TP	p.Y95H	T	GCAAAGTGGTTATTATGTCTG	NM_000733	NP_000724	118183512	P07766	CD3E_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	6	539	+	C	C	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	Missense_Mutation	95			Extracellular (Potential).|Ig-like.			
CD3EAP	10849	broad.mit.edu	GRCh37	19	45911859	45911861	+	inframe_deletion	In_Frame_Del	DEL	GAA	GAA	-			TCGA-06-0644-01	TCGA-06-0644-01	GAA	GAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309424.3:c.645_647del	p.Lys217del	p.K217del	ENST00000309424	NM_012099.1	211	cgGAAg/cgg	0			1			-	RK/R	uc002pbq.1	protein_coding	YES	CCDS12661.1			633-635/1533									large_intestine(2)|ovary(2)	4	c.(631-636)CGGAAG>CGG			Low_complexity_(Seg):seg,hmmpanther:PTHR15484:SF7,hmmpanther:PTHR15484,Pfam_domain:PF08208	CD3E antigen, epsilon polypeptide associated				ENSP00000310966		3-Mar									rs760646316,TMP_ESP_19_45911859_45911861,COSM1721172	3-Mar	.		ENST00000309424	Transcript			rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	ENSG00000117877	g.chr19:45911859_45911861delGAA	24219	12		MODERATE								--	--	1																																		PPP1R13L_uc002pbo.2_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbr.1_In_Frame_Del_p.K219del	0,0,1	1			p.K217del	NM_012099	NP_036231			0,0,1	RPA34_HUMAN	CD3EAP	HGNC	O15446	RPA34_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	K7EQC8_HUMAN		3	1121_1123	+		all_neural(266;0.224)|Ovarian(192;0.231)	UPI0000070847	217			Poly-Lys.		deletion	CD3EAP,inframe_deletion,p.Lys217del,ENST00000309424,NM_012099.1;CD3EAP,inframe_deletion,p.Lys219del,ENST00000589804,;CD3EAP,inframe_deletion,p.Lys38del,ENST00000592852,;ERCC1,3_prime_UTR_variant,,ENST00000300853,NM_001983.3;ERCC1,3_prime_UTR_variant,,ENST00000423698,;CD3EAP,3_prime_UTR_variant,,ENST00000590794,;PPP1R13L,upstream_gene_variant,,ENST00000418234,NM_001142502.1;PPP1R13L,upstream_gene_variant,,ENST00000360957,NM_006663.3;ERCC1,downstream_gene_variant,,ENST00000589165,;ERCC1,downstream_gene_variant,,ENST00000013807,NM_202001.2;ERCC1,downstream_gene_variant,,ENST00000340192,NM_001166049.1;ERCC1,downstream_gene_variant,,ENST00000591636,;PPP1R13L,upstream_gene_variant,,ENST00000593226,;ERCC1,downstream_gene_variant,,ENST00000592444,;PPP1R13L,upstream_gene_variant,,ENST00000592134,;ERCC1,downstream_gene_variant,,ENST00000590701,;ERCC1,downstream_gene_variant,,ENST00000588738,;ERCC1,downstream_gene_variant,,ENST00000592410,;PPP1R13L,upstream_gene_variant,,ENST00000585905,;	uc002pbq.1	c.633_635delGAA	1121-1123/3286	5	5			c.633_635delGAA						19	DEL	c.(631-636)CGGAAG>CGG	62	62			large_intestine(2)|ovary(2)	4	Broad	CD3E antigen, epsilon polypeptide associated			45911861		0.581	ENSG00000117877	2956	g.chr19:45911859_45911861delGAA	rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity																				0.04	1	1	0	1	0	0	0	0	0	--	--		0	-			PPP1R13L_uc002pbo.2_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbr.1_In_Frame_Del_p.K219del	58	GBM-06-0644-TP	p.K217del	GAA	TGGATGTGCGGAAGAAGAAGAAG	NM_012099	NP_036231	45911859	O15446	RPA34_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	3	1121_1123	+	-	-		all_neural(266;0.224)|Ovarian(192;0.231)	In_Frame_Del	217			Poly-Lys.			
CD3EAP	0	broad.mit.edu	GRCh37	19	45911859	45911861	+	inframe_deletion	In_Frame_Del	DEL	GAA	GAA	-			TCGA-28-2514-01	TCGA-28-2514-01	GAA	GAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309424.3:c.645_647delGAA	p.Lys217del	p.K217del	ENST00000309424	NM_012099.1	211	cgGAAg/cgg	0			1			-	RK/R	uc002pbq.1	protein_coding	YES	CCDS12661.1			633-635/1533									large_intestine(2)|ovary(2)	4	c.(631-636)CGGAAG>CGG			Low_complexity_(Seg):seg,hmmpanther:PTHR15484:SF7,hmmpanther:PTHR15484,Pfam_domain:PF08208	CD3E antigen, epsilon polypeptide associated				ENSP00000310966		3-Mar									rs760646316,TMP_ESP_19_45911859_45911861,COSM1721172	3-Mar	.		ENST00000309424	Transcript			rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	ENSG00000117877	g.chr19:45911859_45911861delGAA	24219	12		MODERATE								--	--	1																																		PPP1R13L_uc002pbo.2_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbr.1_In_Frame_Del_p.K219del	0,0,1	1			p.K217del	NM_012099	NP_036231			0,0,1	RPA34_HUMAN	CD3EAP	HGNC	O15446	RPA34_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	K7EQC8_HUMAN		3	1121_1123	+		all_neural(266;0.224)|Ovarian(192;0.231)	UPI0000070847	217			Poly-Lys.		deletion	CD3EAP,inframe_deletion,p.Lys217del,ENST00000309424,NM_012099.1;CD3EAP,inframe_deletion,p.Lys219del,ENST00000589804,;CD3EAP,inframe_deletion,p.Lys38del,ENST00000592852,;ERCC1,3_prime_UTR_variant,,ENST00000300853,NM_001983.3;ERCC1,3_prime_UTR_variant,,ENST00000423698,;CD3EAP,3_prime_UTR_variant,,ENST00000590794,;PPP1R13L,upstream_gene_variant,,ENST00000418234,NM_001142502.1;PPP1R13L,upstream_gene_variant,,ENST00000360957,NM_006663.3;ERCC1,downstream_gene_variant,,ENST00000589165,;ERCC1,downstream_gene_variant,,ENST00000013807,NM_202001.2;ERCC1,downstream_gene_variant,,ENST00000340192,NM_001166049.1;ERCC1,downstream_gene_variant,,ENST00000591636,;PPP1R13L,upstream_gene_variant,,ENST00000593226,;ERCC1,downstream_gene_variant,,ENST00000592444,;PPP1R13L,upstream_gene_variant,,ENST00000592134,;ERCC1,downstream_gene_variant,,ENST00000590701,;ERCC1,downstream_gene_variant,,ENST00000588738,;ERCC1,downstream_gene_variant,,ENST00000592410,;PPP1R13L,upstream_gene_variant,,ENST00000585905,;	uc002pbq.1	c.633_635delGAA	1121-1123/3286	5	5			c.633_635delGAA						19	DEL	c.(631-636)CGGAAG>CGG	62	62			large_intestine(2)|ovary(2)	4	Broad	CD3E antigen, epsilon polypeptide associated			45911861		0.581	ENSG00000117877	2956	g.chr19:45911859_45911861delGAA	rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity																				0.02	1	1	0	1	0	0	0	0	0	--	--		0	-			PPP1R13L_uc002pbo.2_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbr.1_In_Frame_Del_p.K219del	214	GBM-28-2514-TP	p.K217del	GAA	TGGATGTGCGGAAGAAGAAGAAG	NM_012099	NP_036231	45911859	O15446	RPA34_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	3	1121_1123	+	-	-		all_neural(266;0.224)|Ovarian(192;0.231)	In_Frame_Del	217			Poly-Lys.			
CD3EAP	0	broad.mit.edu	GRCh37	19	45911859	45911861	+	inframe_deletion	In_Frame_Del	DEL	GAA	GAA	-			TCGA-76-4928-01	TCGA-76-4928-01	GAA	GAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309424.3:c.645_647delGAA	p.Lys217del	p.K217del	ENST00000309424	NM_012099.1	211	cgGAAg/cgg	0			1			-	RK/R	uc002pbq.1	protein_coding	YES	CCDS12661.1			633-635/1533									large_intestine(2)|ovary(2)	4	c.(631-636)CGGAAG>CGG			Low_complexity_(Seg):seg,hmmpanther:PTHR15484:SF7,hmmpanther:PTHR15484,Pfam_domain:PF08208	CD3E antigen, epsilon polypeptide associated				ENSP00000310966		3-Mar									rs760646316,TMP_ESP_19_45911859_45911861,COSM1721172	3-Mar	.		ENST00000309424	Transcript			rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	ENSG00000117877	g.chr19:45911859_45911861delGAA	24219	12		MODERATE								--	--	1																																		PPP1R13L_uc002pbo.2_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbr.1_In_Frame_Del_p.K219del	0,0,1	1			p.K217del	NM_012099	NP_036231			0,0,1	RPA34_HUMAN	CD3EAP	HGNC	O15446	RPA34_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	K7EQC8_HUMAN		3	1121_1123	+		all_neural(266;0.224)|Ovarian(192;0.231)	UPI0000070847	217			Poly-Lys.		deletion	CD3EAP,inframe_deletion,p.Lys217del,ENST00000309424,NM_012099.1;CD3EAP,inframe_deletion,p.Lys219del,ENST00000589804,;CD3EAP,inframe_deletion,p.Lys38del,ENST00000592852,;ERCC1,3_prime_UTR_variant,,ENST00000300853,NM_001983.3;ERCC1,3_prime_UTR_variant,,ENST00000423698,;CD3EAP,3_prime_UTR_variant,,ENST00000590794,;PPP1R13L,upstream_gene_variant,,ENST00000418234,NM_001142502.1;PPP1R13L,upstream_gene_variant,,ENST00000360957,NM_006663.3;ERCC1,downstream_gene_variant,,ENST00000589165,;ERCC1,downstream_gene_variant,,ENST00000013807,NM_202001.2;ERCC1,downstream_gene_variant,,ENST00000340192,NM_001166049.1;ERCC1,downstream_gene_variant,,ENST00000591636,;PPP1R13L,upstream_gene_variant,,ENST00000593226,;ERCC1,downstream_gene_variant,,ENST00000592444,;PPP1R13L,upstream_gene_variant,,ENST00000592134,;ERCC1,downstream_gene_variant,,ENST00000590701,;ERCC1,downstream_gene_variant,,ENST00000588738,;ERCC1,downstream_gene_variant,,ENST00000592410,;PPP1R13L,upstream_gene_variant,,ENST00000585905,;	uc002pbq.1	c.633_635delGAA	1121-1123/3286	5	5			c.633_635delGAA						19	DEL	c.(631-636)CGGAAG>CGG	62	62			large_intestine(2)|ovary(2)	4	Broad	CD3E antigen, epsilon polypeptide associated			45911861		0.581	ENSG00000117877	2956	g.chr19:45911859_45911861delGAA	rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity																				0.04	1	1	0	1	0	0	0	0	0	--	--		0	-			PPP1R13L_uc002pbo.2_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbr.1_In_Frame_Del_p.K219del	268	GBM-76-4928-TP	p.K217del	GAA	TGGATGTGCGGAAGAAGAAGAAG	NM_012099	NP_036231	45911859	O15446	RPA34_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	3	1121_1123	+	-	-		all_neural(266;0.224)|Ovarian(192;0.231)	In_Frame_Del	217			Poly-Lys.			
CD3EAP	10849	broad.mit.edu	GRCh37	19	45912970	45912970	+	3_prime_UTR_variant	3'UTR	SNP	A	A	G			TCGA-06-0878-01	TCGA-06-0878-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309424.3:c.*211A>G			ENST00000309424	NM_012099.1	286		0			1			G	F/S	uc002pbs.1	protein_coding		CCDS12662.1			857/894									ovary(2)	2	c.(856-858)TTT>TCT		NER	Superfamily_domains:SSF47781,Gene3D:1.10.150.20,Pfam_domain:PF00633,hmmpanther:PTHR12749:SF0,hmmpanther:PTHR12749	excision repair cross-complementing 1 isofrom 2				ENSP00000300853		10-Oct									COSM2152217	10-Oct	.		ENST00000300853	Transcript	1		mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding	ENSG00000012061	g.chr19:45912970A>G	3433			MODERATE		1.3	low	getma.org/?cm=msa&ty=f&p=ERCC1_HUMAN&rb=259&re=288&var=F286S	getma.org/pdb.php?prot=ERCC1_HUMAN&from=259&to=288&var=F286S	getma.org/?cm=var&var=hg19,19,45912970,A,G&fts=all	F286S	--	--	1																																		CD3EAP_uc002pbq.1_3'UTR|CD3EAP_uc002pbr.1_3'UTR|ERCC1_uc002pbt.1_Missense_Mutation_p.F262S|ERCC1_uc002pbu.1_Missense_Mutation_p.F214S	1			benign(0.06)	p.F286S	NM_001983	NP_001974		tolerated(0.09)	1	ERCC1_HUMAN	ERCC1	HGNC	P07992	ERCC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0247)	Q8WWH8_HUMAN,K7ER89_HUMAN,K7EP14_HUMAN,K7EK97_HUMAN		10	1003	-		Ovarian(192;0.051)|all_neural(266;0.112)	UPI000012A11A	286					SNV	ERCC1,missense_variant,p.Phe286Ser,ENST00000300853,NM_001983.3;ERCC1,missense_variant,p.Phe214Ser,ENST00000423698,;ERCC1,missense_variant,p.Phe286Ser,ENST00000589165,;ERCC1,missense_variant,p.Phe262Ser,ENST00000340192,NM_001166049.1;ERCC1,synonymous_variant,p.=,ENST00000591636,;ERCC1,synonymous_variant,p.=,ENST00000590701,;CD3EAP,3_prime_UTR_variant,,ENST00000309424,NM_012099.1;CD3EAP,3_prime_UTR_variant,,ENST00000589804,;PPP1R13L,upstream_gene_variant,,ENST00000418234,NM_001142502.1;PPP1R13L,upstream_gene_variant,,ENST00000360957,NM_006663.3;ERCC1,downstream_gene_variant,,ENST00000013807,NM_202001.2;CD3EAP,downstream_gene_variant,,ENST00000592852,;ERCC1,downstream_gene_variant,,ENST00000592083,;ERCC1,downstream_gene_variant,,ENST00000589381,;PPP1R13L,upstream_gene_variant,,ENST00000593226,;CD3EAP,downstream_gene_variant,,ENST00000590794,;ERCC1,downstream_gene_variant,,ENST00000592444,;PPP1R13L,upstream_gene_variant,,ENST00000592134,;ERCC1,non_coding_transcript_exon_variant,,ENST00000588738,;ERCC1,downstream_gene_variant,,ENST00000592410,;PPP1R13L,upstream_gene_variant,,ENST00000585905,;ERCC1,downstream_gene_variant,,ENST00000587888,;	uc002pbs.1	c.857T>C	1449/3828	4	4			c.857T>C						19	SNP	c.(856-858)TTT>TCT	27	27			ovary(2)	2	Broad	excision repair cross-complementing 1 isofrom 2	NER		45912970		0.502	ENSG00000012061	5127	g.chr19:45912970A>G	mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding							43.671911	KEEP	8	7	-1	9	9	8	7	-1	43.787899	9	9	0.433333	1	0	0	0	0	1	0	0	0	--	--		0	G			CD3EAP_uc002pbq.1_3'UTR|CD3EAP_uc002pbr.1_3'UTR|ERCC1_uc002pbt.1_Missense_Mutation_p.F262S|ERCC1_uc002pbu.1_Missense_Mutation_p.F214S	74	GBM-06-0878-TP	p.F286S	A	CAGGACATCAAACAGCCTCCG	NM_001983	NP_001974	45912970	P07992	ERCC1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.0247)	10	1003	-	G	G		Ovarian(192;0.051)|all_neural(266;0.112)	Missense_Mutation	286						
CD3G	0	broad.mit.edu	GRCh37	11	118223167	118223167	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-1986-01	TCGA-32-1986-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000532917.1:c.532C>A	p.Gln178Lys	p.Q178K	ENST00000532917	NM_000073.2	178	Cag/Aag	0			1			A	Q/K	uc001psu.2	protein_coding	YES	CCDS8395.1			532/549										0	c.(532-534)CAG>AAG			hmmpanther:PTHR10570,hmmpanther:PTHR10570:SF5	CD3G antigen, gamma polypeptide precursor				ENSP00000431445		7-Jun									COSM3397443	7-Jun	.		ENST00000532917	Transcript	1		establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity	ENSG00000160654	g.chr11:118223167C>A	1675			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=CD3G_HUMAN&rb=148&re=182&var=Q178K	NA	getma.org/?cm=var&var=hg19,11,118223167,C,A&fts=all	Q178K	--	--	1																																		CD3G_uc009zaa.1_Missense_Mutation_p.Q118K	1	1		benign(0.01)	p.Q178K	NM_000073	NP_000064		tolerated(1)	1	CD3G_HUMAN	CD3G	HGNC	P09693	CD3G_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	B0YIY5_HUMAN,B0AZV4_HUMAN		6	612	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	UPI000012735F	178			Cytoplasmic (Potential).		SNV	CD3G,missense_variant,p.Gln178Lys,ENST00000532917,NM_000073.2;CD3G,missense_variant,p.Gln74Lys,ENST00000392883,;CD3G,non_coding_transcript_exon_variant,,ENST00000532903,;CD3G,downstream_gene_variant,,ENST00000528540,;CD3G,3_prime_UTR_variant,,ENST00000292144,;CD3G,downstream_gene_variant,,ENST00000533462,;CD3G,downstream_gene_variant,,ENST00000527777,;	uc001psu.2	c.532C>A	600/2678	2	2			c.532C>A						11	SNP	c.(532-534)CAG>AAG	32	32				0	Broad	CD3G antigen, gamma polypeptide precursor			118223167		0.443	ENSG00000160654	2957	g.chr11:118223167C>A	establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity							173.426035	KEEP	43	29	0.402777778	80	108	43	29	0.402777778	182.748768	80	108	0.283784	1	0	0	0	0	1	0	0	0	--	--		0	A			CD3G_uc009zaa.1_Missense_Mutation_p.Q118K	233	GBM-32-1986-TP	p.Q178K	C	TCAAGGAAACCAGTTGAGGAG	NM_000073	NP_000064	118223167	P09693	CD3G_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	6	612	+	A	A	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	Missense_Mutation	178			Cytoplasmic (Potential).			
CD40	0	broad.mit.edu	GRCh37	20	44750990	44750990	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4934-01	TCGA-76-4934-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372285.3:c.249C>T	p.Cys83=	p.C83=	ENST00000372285	NM_001250.4	83	tgC/tgT	0			1			T	C	uc002xrg.1	protein_coding	YES	CCDS13393.1			249/834									lung(1)|skin(1)	2	c.(247-249)TGC>TGT			PROSITE_profiles:PS50050,hmmpanther:PTHR23097:SF103,hmmpanther:PTHR23097,Gene3D:2.10.50.10,SMART_domains:SM00208,Prints_domain:PR01922	CD40 antigen isoform 1 precursor	Simvastatin(DB00641)			ENSP00000361359		9-Mar	2.47E-05		0.000173			1.50E-05			rs776893342,COSM3405160	9-Mar	.	Immune_Deficiency_with_Hyper-IgM	ENST00000372285	Transcript	1		B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity	ENSG00000101017	g.chr20:44750990C>T	11919			LOW								--	--	1																																		CD40_uc002xrf.1_Silent_p.C83C|CD40_uc002xrh.1_Silent_p.C83C|CD40_uc002xri.1_Silent_p.C83C|CD40_uc002xrj.1_RNA|CD40_uc002xrk.1_RNA	0,1	1			p.C83C	NM_001250	NP_001241			0,1	TNR5_HUMAN	CD40	HGNC	P25942	TNR5_HUMAN			Q09LL4_HUMAN		3	326	+		Myeloproliferative disorder(115;0.0122)	UPI00000336A0	83			TNFR-Cys 2.|Extracellular (Potential).		SNV	CD40,synonymous_variant,p.=,ENST00000372285,NM_001250.4;CD40,synonymous_variant,p.=,ENST00000372276,NM_152854.2;CD40,non_coding_transcript_exon_variant,,ENST00000489304,;CD40,non_coding_transcript_exon_variant,,ENST00000477696,;CD40,non_coding_transcript_exon_variant,,ENST00000461171,;CD40,synonymous_variant,p.=,ENST00000466205,;	uc002xrg.1	c.249C>T	321/1729	2	2			c.249C>T						20	SNP	c.(247-249)TGC>TGT	19	19			lung(1)|skin(1)	2	Broad	CD40 antigen isoform 1 precursor		Simvastatin(DB00641)	44750990	Immune_Deficiency_with_Hyper-IgM	0.393	ENSG00000101017	2959	g.chr20:44750990C>T	B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			521			521	99.955207	KEEP	15	27	-1	68	73	15	27	-1	107.991308	68	73	0.25974	1	0	0	0	0	0	0	1	0	--	--		0	T			CD40_uc002xrf.1_Silent_p.C83C|CD40_uc002xrh.1_Silent_p.C83C|CD40_uc002xri.1_Silent_p.C83C|CD40_uc002xrj.1_RNA|CD40_uc002xrk.1_RNA	272	GBM-76-4934-TP	p.C83C	C	ACAAATACTGCGACCCCAGTG	NM_001250	NP_001241	44750990	P25942	TNR5_HUMAN	0			3	326	+	T	T		Myeloproliferative disorder(115;0.0122)	Silent	83			TNFR-Cys 2.|Extracellular (Potential).			
CD44	960	broad.mit.edu	GRCh37	11	35227763	35227763	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428726.2:c.1387C>T	p.Arg463Ter	p.R463*	ENST00000428726	NM_000610.3	463	Cga/Tga	0			1			T	R/*	uc001mvu.2	protein_coding	YES	CCDS7897.1			1387/2229									pancreas(1)	1	c.(1387-1389)CGA>TGA			hmmpanther:PTHR10225,hmmpanther:PTHR10225:SF6	CD44 antigen isoform 1 precursor	Hyaluronidase(DB00070)			ENSP00000398632		18-Nov									COSM2149619	18-Nov	.		ENST00000428726	Transcript	1		cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	ENSG00000026508	g.chr11:35227763C>T	1681			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,11,35227763,C,T&fts=all	R463*	--	--	1																																		CD44_uc001mvv.2_Nonsense_Mutation_p.R420*|CD44_uc001mvw.2_Intron|CD44_uc001mvx.2_Intron|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Intron|CD44_uc010rer.1_Intron|CD44_uc009ykh.2_Intron|CD44_uc010res.1_Nonsense_Mutation_p.R27*|CD44_uc010ret.1_Intron|CD44_uc010reu.1_Intron	1	1			p.R463*	NM_000610	NP_000601			1	CD44_HUMAN	CD44	HGNC	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		E9PKC6_HUMAN,C1PHE6_HUMAN,C1PHC4_HUMAN,C1PHC3_HUMAN,C0STK4_HUMAN,B4XHE2_HUMAN		11	1821	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	UPI000013D3FE	463			Extracellular (Potential).|Stem.		SNV	CD44,stop_gained,p.Arg463Ter,ENST00000428726,NM_000610.3;CD44,stop_gained,p.Arg464Ter,ENST00000433354,;CD44,stop_gained,p.Arg420Ter,ENST00000449691,;CD44,stop_gained,p.Arg420Ter,ENST00000415148,NM_001001389.1;CD44,stop_gained,p.Arg463Ter,ENST00000437706,;CD44,stop_gained,p.Arg175Ter,ENST00000531110,;CD44,stop_gained,p.Arg237Ter,ENST00000525211,;CD44,stop_gained,p.Arg116Ter,ENST00000526553,;CD44,intron_variant,,ENST00000263398,NM_001202555.1,NM_001202556.1,NM_001001391.1;CD44,intron_variant,,ENST00000433892,NM_001001390.1;CD44,intron_variant,,ENST00000442151,NM_001202557.1;CD44,intron_variant,,ENST00000434472,;CD44,intron_variant,,ENST00000360158,;CD44,intron_variant,,ENST00000352818,;CD44,intron_variant,,ENST00000526669,;CD44,intron_variant,,ENST00000279452,;CD44,intron_variant,,ENST00000525685,;CD44,intron_variant,,ENST00000526000,;CD44,intron_variant,,ENST00000278385,;CD44,intron_variant,,ENST00000528672,;CD44,intron_variant,,ENST00000531873,;CD44,intron_variant,,ENST00000533222,;CD44,intron_variant,,ENST00000525688,;CD44,intron_variant,,ENST00000527889,;CD44,intron_variant,,ENST00000278386,NM_001001392.1;CD44,downstream_gene_variant,,ENST00000528455,;CD44,downstream_gene_variant,,ENST00000524922,;RP1-68D18.4,downstream_gene_variant,,ENST00000528869,;CD44,intron_variant,,ENST00000528086,;CD44,non_coding_transcript_exon_variant,,ENST00000532339,;CD44,intron_variant,,ENST00000425428,;CD44,intron_variant,,ENST00000525293,;CD44,downstream_gene_variant,,ENST00000534296,;CD44,downstream_gene_variant,,ENST00000525348,;CD44,downstream_gene_variant,,ENST00000534082,;CD44,downstream_gene_variant,,ENST00000525241,;	uc001mvu.2	c.1387C>T	1510/3046	5	1			c.1387C>T						11	SNP	c.(1387-1389)CGA>TGA	1	1			pancreas(1)	1	Broad	CD44 antigen isoform 1 precursor		Hyaluronidase(DB00070)	35227763		0.443	ENSG00000026508	2961	g.chr11:35227763C>T	cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			401			401	203.50683	KEEP	41	30	-1	51	43	41	30	-1	203.923178	51	43	0.443709	1	0	0	0	0	0	1	0	0	--	--		0	T			CD44_uc001mvv.2_Nonsense_Mutation_p.R420*|CD44_uc001mvw.2_Intron|CD44_uc001mvx.2_Intron|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Intron|CD44_uc010rer.1_Intron|CD44_uc009ykh.2_Intron|CD44_uc010res.1_Nonsense_Mutation_p.R27*|CD44_uc010ret.1_Intron|CD44_uc010reu.1_Intron	18	GBM-06-0137-TP	p.R463*	C	CCCCATGGGACGAGGTCATCA	NM_000610	NP_000601	35227763	P16070	CD44_HUMAN	0	STAD - Stomach adenocarcinoma(6;0.00731)		11	1821	+	T	T	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	Nonsense_Mutation	463			Extracellular (Potential).|Stem.			
CD44	960	broad.mit.edu	GRCh37	11	35232846	35232846	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0155-01	TCGA-06-0155-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428726.2:c.1660A>G	p.Thr554Ala	p.T554A	ENST00000428726	NM_000610.3	554	Act/Gct	0			1			G	T/A	uc001mvu.2	protein_coding	YES	CCDS7897.1			1660/2229									pancreas(1)	1	c.(1660-1662)ACT>GCT			hmmpanther:PTHR10225,hmmpanther:PTHR10225:SF6	CD44 antigen isoform 1 precursor	Hyaluronidase(DB00070)			ENSP00000398632		14/18									COSM2150020	14/18	.		ENST00000428726	Transcript	1		cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	ENSG00000026508	g.chr11:35232846A>G	1681			MODERATE		0.235	neutral	getma.org/?cm=msa&ty=f&p=CD44_HUMAN&rb=520&re=719&var=T554A	NA	getma.org/?cm=var&var=hg19,11,35232846,A,G&fts=all	T554A	--	--	1																																		CD44_uc001mvv.2_Missense_Mutation_p.T511A|CD44_uc001mvw.2_Missense_Mutation_p.T305A|CD44_uc001mvx.2_Intron|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Missense_Mutation_p.T241A|CD44_uc010rer.1_Intron|CD44_uc009ykh.2_Intron|CD44_uc010res.1_Missense_Mutation_p.T118A|CD44_uc010ret.1_RNA|CD44_uc010reu.1_Missense_Mutation_p.T82A	1	1		benign(0.016)	p.T554A	NM_000610	NP_000601		tolerated(0.33)	1	CD44_HUMAN	CD44	HGNC	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		E9PKC6_HUMAN,C1PHE6_HUMAN,C1PHC4_HUMAN,C1PHC3_HUMAN,C0STK4_HUMAN,B4XHE2_HUMAN		14	2094	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	UPI000013D3FE	554			Extracellular (Potential).|Stem.		SNV	CD44,missense_variant,p.Thr554Ala,ENST00000428726,NM_000610.3;CD44,missense_variant,p.Thr526Ala,ENST00000433354,;CD44,missense_variant,p.Thr511Ala,ENST00000415148,NM_001001389.1;CD44,missense_variant,p.Thr511Ala,ENST00000449691,;CD44,missense_variant,p.Thr305Ala,ENST00000433892,NM_001001390.1;CD44,missense_variant,p.Thr241Ala,ENST00000434472,;CD44,missense_variant,p.Thr188Ala,ENST00000526000,;CD44,missense_variant,p.Thr162Ala,ENST00000528672,;CD44,missense_variant,p.Thr192Ala,ENST00000531873,;CD44,missense_variant,p.Thr180Ala,ENST00000533222,;CD44,intron_variant,,ENST00000263398,NM_001202555.1,NM_001202556.1,NM_001001391.1;CD44,intron_variant,,ENST00000437706,;CD44,intron_variant,,ENST00000442151,NM_001202557.1;CD44,intron_variant,,ENST00000360158,;CD44,intron_variant,,ENST00000352818,;CD44,intron_variant,,ENST00000526669,;CD44,intron_variant,,ENST00000279452,;CD44,intron_variant,,ENST00000278385,;CD44,intron_variant,,ENST00000525688,;CD44,intron_variant,,ENST00000278386,NM_001001392.1;CD44,downstream_gene_variant,,ENST00000531110,;CD44,downstream_gene_variant,,ENST00000525685,;CD44,downstream_gene_variant,,ENST00000526553,;CD44,downstream_gene_variant,,ENST00000527889,;RP1-68D18.4,intron_variant,,ENST00000528869,;RP1-68D18.2,upstream_gene_variant,,ENST00000510619,;CD44,downstream_gene_variant,,ENST00000528086,;CD44,non_coding_transcript_exon_variant,,ENST00000525293,;CD44,intron_variant,,ENST00000425428,;CD44,upstream_gene_variant,,ENST00000527326,;CD44,downstream_gene_variant,,ENST00000532339,;	uc001mvu.2	c.1660A>G	1783/3046	4	4			c.1660A>G						11	SNP	c.(1660-1662)ACT>GCT	28	28			pancreas(1)	1	Broad	CD44 antigen isoform 1 precursor		Hyaluronidase(DB00070)	35232846		0.463	ENSG00000026508	2961	g.chr11:35232846A>G	cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			401			401	363.340625	KEEP	54	63	-1	96	94	54	63	-1	367.109867	96	94	0.375451	1	0	0	0	0	1	0	0	0	--	--		0	G			CD44_uc001mvv.2_Missense_Mutation_p.T511A|CD44_uc001mvw.2_Missense_Mutation_p.T305A|CD44_uc001mvx.2_Intron|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Missense_Mutation_p.T241A|CD44_uc010rer.1_Intron|CD44_uc009ykh.2_Intron|CD44_uc010res.1_Missense_Mutation_p.T118A|CD44_uc010ret.1_RNA|CD44_uc010reu.1_Missense_Mutation_p.T82A	27	GBM-06-0155-TP	p.T554A	A	TGAAGGCTCAACTACTTTACT	NM_000610	NP_000601	35232846	P16070	CD44_HUMAN	0	STAD - Stomach adenocarcinoma(6;0.00731)		14	2094	+	G	G	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	Missense_Mutation	554			Extracellular (Potential).|Stem.			
CD44	0	broad.mit.edu	GRCh37	11	35226085	35226085	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-32-2494-01	TCGA-32-2494-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428726.2:c.1180G>T	p.Glu394Ter	p.E394*	ENST00000428726	NM_000610.3	394	Gaa/Taa	0			1			T	E/*	uc001mvu.2	protein_coding	YES	CCDS7897.1			1180/2229									pancreas(1)	1	c.(1180-1182)GAA>TAA			hmmpanther:PTHR10225,hmmpanther:PTHR10225:SF6,Low_complexity_(Seg):seg	CD44 antigen isoform 1 precursor	Hyaluronidase(DB00070)			ENSP00000398632		18-Oct									COSM3397651	18-Oct	.		ENST00000428726	Transcript	1		cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	ENSG00000026508	g.chr11:35226085G>T	1681			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,11,35226085,G,T&fts=all	E394*	--	--	1																																		CD44_uc001mvv.2_Nonsense_Mutation_p.E351*|CD44_uc001mvw.2_Intron|CD44_uc001mvx.2_Intron|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Intron|CD44_uc010rer.1_Intron|CD44_uc009ykh.2_Intron|CD44_uc010res.1_Intron|CD44_uc010ret.1_Intron|CD44_uc010reu.1_Intron	1	1			p.E394*	NM_000610	NP_000601			1	CD44_HUMAN	CD44	HGNC	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		E9PKC6_HUMAN,C1PHE6_HUMAN,C1PHC4_HUMAN,C1PHC3_HUMAN,C0STK4_HUMAN,B4XHE2_HUMAN		10	1614	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	UPI000013D3FE	394			Extracellular (Potential).|Stem.		SNV	CD44,stop_gained,p.Glu394Ter,ENST00000428726,NM_000610.3;CD44,stop_gained,p.Glu395Ter,ENST00000433354,;CD44,stop_gained,p.Glu351Ter,ENST00000415148,NM_001001389.1;CD44,stop_gained,p.Glu394Ter,ENST00000437706,;CD44,stop_gained,p.Glu106Ter,ENST00000531110,;CD44,stop_gained,p.Glu46Ter,ENST00000528672,;CD44,stop_gained,p.Glu48Ter,ENST00000526553,;CD44,intron_variant,,ENST00000263398,NM_001202555.1,NM_001202556.1,NM_001001391.1;CD44,intron_variant,,ENST00000449691,;CD44,intron_variant,,ENST00000433892,NM_001001390.1;CD44,intron_variant,,ENST00000442151,NM_001202557.1;CD44,intron_variant,,ENST00000434472,;CD44,intron_variant,,ENST00000360158,;CD44,intron_variant,,ENST00000352818,;CD44,intron_variant,,ENST00000526669,;CD44,intron_variant,,ENST00000279452,;CD44,intron_variant,,ENST00000525211,;CD44,intron_variant,,ENST00000525685,;CD44,intron_variant,,ENST00000526000,;CD44,intron_variant,,ENST00000278385,;CD44,intron_variant,,ENST00000531873,;CD44,intron_variant,,ENST00000533222,;CD44,intron_variant,,ENST00000525688,;CD44,intron_variant,,ENST00000527889,;CD44,intron_variant,,ENST00000278386,NM_001001392.1;CD44,downstream_gene_variant,,ENST00000528455,;CD44,downstream_gene_variant,,ENST00000524922,;CD44,intron_variant,,ENST00000528086,;CD44,downstream_gene_variant,,ENST00000525209,;CD44,non_coding_transcript_exon_variant,,ENST00000534296,;CD44,non_coding_transcript_exon_variant,,ENST00000534082,;CD44,non_coding_transcript_exon_variant,,ENST00000525241,;CD44,intron_variant,,ENST00000425428,;CD44,intron_variant,,ENST00000525293,;CD44,upstream_gene_variant,,ENST00000532339,;CD44,downstream_gene_variant,,ENST00000525348,;	uc001mvu.2	c.1180G>T	1303/3046	5	1			c.1180G>T						11	SNP	c.(1180-1182)GAA>TAA	16	16			pancreas(1)	1	Broad	CD44 antigen isoform 1 precursor		Hyaluronidase(DB00070)	35226085		0.453	ENSG00000026508	2961	g.chr11:35226085G>T	cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			401			401	-33.047863	KEEP	2	2	0.5	91	90	2	2	0.5	7.573865	91	90	0.024691	1	0	0	0	0	0	1	0	0	--	--		0	T			CD44_uc001mvv.2_Nonsense_Mutation_p.E351*|CD44_uc001mvw.2_Intron|CD44_uc001mvx.2_Intron|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Intron|CD44_uc010rer.1_Intron|CD44_uc009ykh.2_Intron|CD44_uc010res.1_Intron|CD44_uc010ret.1_Intron|CD44_uc010reu.1_Intron	236	GBM-32-2494-TP	p.E394*	G	TAGTACAACGGAAGAAACAGC	NM_000610	NP_000601	35226085	P16070	CD44_HUMAN	0	STAD - Stomach adenocarcinoma(6;0.00731)		10	1614	+	T	T	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	Nonsense_Mutation	394			Extracellular (Potential).|Stem.			
CD46	4179	broad.mit.edu	GRCh37	1	207930949	207930949	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0210-01	TCGA-06-0210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322875.4:c.351C>T	p.Tyr117=	p.Y117=	ENST00000322875	NM_172359.2	117	taC/taT	0			1			T	Y	uc001hgc.2	protein_coding		CCDS1485.1			351/1179									large_intestine(2)|lung(1)|central_nervous_system(1)	4	c.(349-351)TAC>TAT			PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF50,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,PIRSF_domain:PIRSF037971,Superfamily_domains:SSF57535	CD46 antigen, complement regulatory protein				ENSP00000350893		14-Mar									COSM3400255	14-Mar	.		ENST00000358170	Transcript	1		complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	ENSG00000117335	g.chr1:207930949C>T	6953			LOW								--	--	1																																		CD46_uc001hgd.2_Silent_p.Y117Y|CD46_uc001hge.2_Silent_p.Y117Y|CD46_uc001hgf.2_Silent_p.Y117Y|CD46_uc001hgg.2_Silent_p.Y117Y|CD46_uc001hgh.2_Silent_p.Y117Y|CD46_uc001hgi.2_Silent_p.Y117Y|CD46_uc001hgj.2_Silent_p.Y117Y|CD46_uc001hgk.2_Silent_p.Y117Y|CD46_uc001hgl.2_Silent_p.Y117Y|CD46_uc001hgm.2_Silent_p.Y117Y|CD46_uc001hgn.2_Silent_p.Y117Y|CD46_uc001hgo.2_Silent_p.Y117Y|CD46_uc001hgp.2_Silent_p.Y117Y	1				p.Y117Y	NM_002389	NP_002380			1	MCP_HUMAN	CD46	HGNC	P15529	MCP_HUMAN			Q06C42_HUMAN		3	507	+			UPI0000160DF2	117			Extracellular (Potential).|Sushi 2.		SNV	CD46,synonymous_variant,p.=,ENST00000358170,NM_002389.4;CD46,synonymous_variant,p.=,ENST00000367042,NM_172351.2;CD46,synonymous_variant,p.=,ENST00000367041,NM_172352.2;CD46,synonymous_variant,p.=,ENST00000322875,NM_172359.2;CD46,synonymous_variant,p.=,ENST00000361067,;CD46,synonymous_variant,p.=,ENST00000354848,NM_153826.3;CD46,synonymous_variant,p.=,ENST00000357714,NM_172353.2;CD46,synonymous_variant,p.=,ENST00000441839,;CD46,synonymous_variant,p.=,ENST00000322918,NM_172350.2;CD46,synonymous_variant,p.=,ENST00000367047,;CD46,synonymous_variant,p.=,ENST00000360212,NM_172361.2;CD46,synonymous_variant,p.=,ENST00000480003,;CD46,non_coding_transcript_exon_variant,,ENST00000469535,;CD46,non_coding_transcript_exon_variant,,ENST00000493796,;CD46,upstream_gene_variant,,ENST00000464082,;RP11-454L1.2,upstream_gene_variant,,ENST00000435216,;	uc001hgc.2	c.351C>T	507/3371	1	1			c.351C>T						1	SNP	c.(349-351)TAC>TAT	2	2			large_intestine(2)|lung(1)|central_nervous_system(1)	4	Broad	CD46 antigen, complement regulatory protein			207930949		0.358	ENSG00000117335	2962	g.chr1:207930949C>T	complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity							15.672281	KEEP	7	3	-1	27	19	7	3	-1	19.858474	27	19	0.181818	1	0	0	0	0	0	0	1	0	--	--		0	T			CD46_uc001hgd.2_Silent_p.Y117Y|CD46_uc001hge.2_Silent_p.Y117Y|CD46_uc001hgf.2_Silent_p.Y117Y|CD46_uc001hgg.2_Silent_p.Y117Y|CD46_uc001hgh.2_Silent_p.Y117Y|CD46_uc001hgi.2_Silent_p.Y117Y|CD46_uc001hgj.2_Silent_p.Y117Y|CD46_uc001hgk.2_Silent_p.Y117Y|CD46_uc001hgl.2_Silent_p.Y117Y|CD46_uc001hgm.2_Silent_p.Y117Y|CD46_uc001hgn.2_Silent_p.Y117Y|CD46_uc001hgo.2_Silent_p.Y117Y|CD46_uc001hgp.2_Silent_p.Y117Y	47	GBM-06-0210-TP	p.Y117Y	C	ATGGGACTTACGAGTTTGGTT	NM_002389	NP_002380	207930949	P15529	MCP_HUMAN	0			3	507	+	T	T			Silent	117			Extracellular (Potential).|Sushi 2.			
CD46	4179	broad.mit.edu	GRCh37	1	207930974	207930974	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0939-01	TCGA-06-0939-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322875.4:c.376A>G	p.Ile126Val	p.I126V	ENST00000322875	NM_172359.2	126	Att/Gtt	0			1			G	I/V	uc001hgc.2	protein_coding		CCDS1485.1			376/1179									large_intestine(2)|lung(1)|central_nervous_system(1)	4	c.(376-378)ATT>GTT			PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF50,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,PIRSF_domain:PIRSF037971,Superfamily_domains:SSF57535	CD46 antigen, complement regulatory protein				ENSP00000350893		14-Mar									COSM3400256	14-Mar	.		ENST00000358170	Transcript	1		complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	ENSG00000117335	g.chr1:207930974A>G	6953			MODERATE		-0.41	neutral	getma.org/?cm=msa&ty=f&p=MCP_HUMAN&rb=99&re=157&var=I126V	getma.org/pdb.php?prot=MCP_HUMAN&from=99&to=157&var=I126V	getma.org/?cm=var&var=hg19,1,207930974,A,G&fts=all	I126V	--	--	1																																		CD46_uc001hgd.2_Missense_Mutation_p.I126V|CD46_uc001hge.2_Missense_Mutation_p.I126V|CD46_uc001hgf.2_Missense_Mutation_p.I126V|CD46_uc001hgg.2_Missense_Mutation_p.I126V|CD46_uc001hgh.2_Missense_Mutation_p.I126V|CD46_uc001hgi.2_Missense_Mutation_p.I126V|CD46_uc001hgj.2_Missense_Mutation_p.I126V|CD46_uc001hgk.2_Missense_Mutation_p.I126V|CD46_uc001hgl.2_Missense_Mutation_p.I126V|CD46_uc001hgm.2_Missense_Mutation_p.I126V|CD46_uc001hgn.2_Missense_Mutation_p.I126V|CD46_uc001hgo.2_Missense_Mutation_p.I126V|CD46_uc001hgp.2_Missense_Mutation_p.I126V	1			benign(0.038)	p.I126V	NM_002389	NP_002380		tolerated(0.51)	1	MCP_HUMAN	CD46	HGNC	P15529	MCP_HUMAN			Q06C42_HUMAN		3	532	+			UPI0000160DF2	126			Extracellular (Potential).|Sushi 2.		SNV	CD46,missense_variant,p.Ile126Val,ENST00000358170,NM_002389.4;CD46,missense_variant,p.Ile126Val,ENST00000367042,NM_172351.2;CD46,missense_variant,p.Ile126Val,ENST00000367041,NM_172352.2;CD46,missense_variant,p.Ile126Val,ENST00000322875,NM_172359.2;CD46,missense_variant,p.Ile126Val,ENST00000361067,;CD46,missense_variant,p.Ile126Val,ENST00000354848,NM_153826.3;CD46,missense_variant,p.Ile126Val,ENST00000357714,NM_172353.2;CD46,missense_variant,p.Ile126Val,ENST00000441839,;CD46,missense_variant,p.Ile126Val,ENST00000322918,NM_172350.2;CD46,missense_variant,p.Ile63Val,ENST00000367047,;CD46,missense_variant,p.Ile126Val,ENST00000360212,NM_172361.2;CD46,missense_variant,p.Ile126Val,ENST00000480003,;CD46,non_coding_transcript_exon_variant,,ENST00000469535,;CD46,non_coding_transcript_exon_variant,,ENST00000493796,;CD46,upstream_gene_variant,,ENST00000464082,;RP11-454L1.2,upstream_gene_variant,,ENST00000435216,;	uc001hgc.2	c.376A>G	532/3371	3	3			c.376A>G						1	SNP	c.(376-378)ATT>GTT	54	54			large_intestine(2)|lung(1)|central_nervous_system(1)	4	Broad	CD46 antigen, complement regulatory protein			207930974		0.363	ENSG00000117335	2962	g.chr1:207930974A>G	complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity							1.329598	KEEP	0	2	-1	13	17	0	2	-1	6.625755	13	17	0.071429	1	0	0	0	0	1	0	0	0	--	--		0	G			CD46_uc001hgd.2_Missense_Mutation_p.I126V|CD46_uc001hge.2_Missense_Mutation_p.I126V|CD46_uc001hgf.2_Missense_Mutation_p.I126V|CD46_uc001hgg.2_Missense_Mutation_p.I126V|CD46_uc001hgh.2_Missense_Mutation_p.I126V|CD46_uc001hgi.2_Missense_Mutation_p.I126V|CD46_uc001hgj.2_Missense_Mutation_p.I126V|CD46_uc001hgk.2_Missense_Mutation_p.I126V|CD46_uc001hgl.2_Missense_Mutation_p.I126V|CD46_uc001hgm.2_Missense_Mutation_p.I126V|CD46_uc001hgn.2_Missense_Mutation_p.I126V|CD46_uc001hgo.2_Missense_Mutation_p.I126V|CD46_uc001hgp.2_Missense_Mutation_p.I126V	78	GBM-06-0939-TP	p.I126V	A	GATGCACTTTATTTGTAATGA	NM_002389	NP_002380	207930974	P15529	MCP_HUMAN	0			3	532	+	G	G			Missense_Mutation	126			Extracellular (Potential).|Sushi 2.			
CD46	4179	broad.mit.edu	GRCh37	1	207934671	207934671	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0939-01	TCGA-06-0939-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322875.4:c.553G>T	p.Asp185Tyr	p.D185Y	ENST00000322875	NM_172359.2	185	Gat/Tat	0			1			T	D/Y	uc001hgc.2	protein_coding		CCDS1485.1			553/1179									large_intestine(2)|lung(1)|central_nervous_system(1)	4	c.(553-555)GAT>TAT			PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF50,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,PIRSF_domain:PIRSF037971,Superfamily_domains:SSF57535	CD46 antigen, complement regulatory protein				ENSP00000350893		14-May									COSM3400257	14-May	.		ENST00000358170	Transcript	1		complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	ENSG00000117335	g.chr1:207934671G>T	6953			MODERATE		2.41	medium	getma.org/?cm=msa&ty=f&p=MCP_HUMAN&rb=162&re=223&var=D185Y	getma.org/pdb.php?prot=MCP_HUMAN&from=162&to=223&var=D185Y	getma.org/?cm=var&var=hg19,1,207934671,G,T&fts=all	D185Y	--	--	1																																		CD46_uc001hgd.2_Missense_Mutation_p.D185Y|CD46_uc001hge.2_Missense_Mutation_p.D185Y|CD46_uc001hgf.2_Missense_Mutation_p.D185Y|CD46_uc001hgg.2_Missense_Mutation_p.D185Y|CD46_uc001hgh.2_Missense_Mutation_p.D185Y|CD46_uc001hgi.2_Missense_Mutation_p.D185Y|CD46_uc001hgj.2_Missense_Mutation_p.D185Y|CD46_uc001hgk.2_Missense_Mutation_p.D185Y|CD46_uc001hgl.2_Missense_Mutation_p.D185Y|CD46_uc001hgm.2_Missense_Mutation_p.D185Y|CD46_uc001hgn.2_Missense_Mutation_p.D185Y|CD46_uc001hgo.2_Missense_Mutation_p.D185Y|CD46_uc001hgp.2_Missense_Mutation_p.D185Y	1			probably_damaging(0.984)	p.D185Y	NM_002389	NP_002380		deleterious(0)	1	MCP_HUMAN	CD46	HGNC	P15529	MCP_HUMAN			Q06C42_HUMAN		5	709	+			UPI0000160DF2	185			Extracellular (Potential).|Sushi 3.		SNV	CD46,missense_variant,p.Asp185Tyr,ENST00000358170,NM_002389.4;CD46,missense_variant,p.Asp185Tyr,ENST00000367042,NM_172351.2;CD46,missense_variant,p.Asp185Tyr,ENST00000367041,NM_172352.2;CD46,missense_variant,p.Asp185Tyr,ENST00000322875,NM_172359.2;CD46,missense_variant,p.Asp185Tyr,ENST00000361067,;CD46,missense_variant,p.Asp185Tyr,ENST00000354848,NM_153826.3;CD46,missense_variant,p.Asp185Tyr,ENST00000357714,NM_172353.2;CD46,missense_variant,p.Asp185Tyr,ENST00000441839,;CD46,missense_variant,p.Asp185Tyr,ENST00000322918,NM_172350.2;CD46,missense_variant,p.Asp122Tyr,ENST00000367047,;CD46,missense_variant,p.Asp185Tyr,ENST00000360212,NM_172361.2;CD46,missense_variant,p.Asp185Tyr,ENST00000480003,;CD46,non_coding_transcript_exon_variant,,ENST00000469535,;CD46,downstream_gene_variant,,ENST00000493796,;CD46,non_coding_transcript_exon_variant,,ENST00000464082,;RP11-454L1.2,upstream_gene_variant,,ENST00000435216,;	uc001hgc.2	c.553G>T	709/3371	2	2			c.553G>T						1	SNP	c.(553-555)GAT>TAT	36	36			large_intestine(2)|lung(1)|central_nervous_system(1)	4	Broad	CD46 antigen, complement regulatory protein			207934671		0.373	ENSG00000117335	2962	g.chr1:207934671G>T	complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity							-13.354161	KEEP	1	2	0.333333333	38	47	1	2	0.333333333	6.316025	38	47	0.035714	1	0	0	0	0	1	0	0	0	--	--		0	T			CD46_uc001hgd.2_Missense_Mutation_p.D185Y|CD46_uc001hge.2_Missense_Mutation_p.D185Y|CD46_uc001hgf.2_Missense_Mutation_p.D185Y|CD46_uc001hgg.2_Missense_Mutation_p.D185Y|CD46_uc001hgh.2_Missense_Mutation_p.D185Y|CD46_uc001hgi.2_Missense_Mutation_p.D185Y|CD46_uc001hgj.2_Missense_Mutation_p.D185Y|CD46_uc001hgk.2_Missense_Mutation_p.D185Y|CD46_uc001hgl.2_Missense_Mutation_p.D185Y|CD46_uc001hgm.2_Missense_Mutation_p.D185Y|CD46_uc001hgn.2_Missense_Mutation_p.D185Y|CD46_uc001hgo.2_Missense_Mutation_p.D185Y|CD46_uc001hgp.2_Missense_Mutation_p.D185Y	78	GBM-06-0939-TP	p.D185Y	G	TGAGTATCTTGATGCAGTAAC	NM_002389	NP_002380	207934671	P15529	MCP_HUMAN	0			5	709	+	T	T			Missense_Mutation	185			Extracellular (Potential).|Sushi 3.			
CD5	921	broad.mit.edu	GRCh37	11	60890382	60890382	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-5417-01	TCGA-06-5417-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000347785.3:c.1103A>G	p.Gln368Arg	p.Q368R	ENST00000347785	NM_014207.3	368	cAg/cGg	0			1			G	Q/R	uc009ynk.2	protein_coding	YES	CCDS8000.1			1103/1488									ovary(1)	1	c.(1102-1104)CAG>CGG			Pfam_domain:PF00530,PROSITE_profiles:PS50287,SMART_domains:SM00202,Superfamily_domains:SSF56487	CD5 molecule precursor				ENSP00000342681		11-Jul									COSM3747890	11-Jul	.		ENST00000347785	Transcript			cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	ENSG00000110448	g.chr11:60890382A>G	1685			MODERATE		2.34	medium	getma.org/?cm=msa&ty=f&p=CD5_HUMAN&rb=279&re=368&var=Q368R	getma.org/pdb.php?prot=CD5_HUMAN&from=279&to=368&var=Q368R	getma.org/?cm=var&var=hg19,11,60890382,A,G&fts=all	Q368R	--	--	1																																			1	1		benign(0.239)	p.Q368R	NM_014207	NP_055022		deleterious(0.03)	1	CD5_HUMAN	CD5	HGNC	P06127	CD5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)	H6D9U9_HUMAN		7	1206	+		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)	UPI000013D472	368			Extracellular (Potential).|SRCR 3.		SNV	CD5,missense_variant,p.Gln368Arg,ENST00000347785,NM_014207.3;CD5,downstream_gene_variant,,ENST00000544014,;	uc009ynk.2	c.1103A>G	1269/3221	4	4			c.1103A>G						11	SNP	c.(1102-1104)CAG>CGG	24	24			ovary(1)	1	Broad	CD5 molecule precursor			60890382		0.657	ENSG00000110448	2965	g.chr11:60890382A>G	cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity							-45.085785	KEEP	5	0	-1	117	120	5	0	-1	8.346961	117	120	0.019417	1	0	0	0	0	1	0	0	0	--	--		0	G				99	GBM-06-5417-TP	p.Q368R	A	TCCCCAGGCCAGGATCCAAAC	NM_014207	NP_055022	60890382	P06127	CD5_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)	7	1206	+	G	G		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)	Missense_Mutation	368			Extracellular (Potential).|SRCR 3.			
CD5	0	broad.mit.edu	GRCh37	11	60885944	60885944	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-27-2524-01	TCGA-27-2524-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000347785.3:c.392C>A	p.Thr131Asn	p.T131N	ENST00000347785	NM_014207.3	131	aCc/aAc	0			1			A	T/N	uc009ynk.2	protein_coding	YES	CCDS8000.1			392/1488									ovary(1)	1	c.(391-393)ACC>AAC			Pfam_domain:PF00530,PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF265,SMART_domains:SM00202,Superfamily_domains:SSF56487	CD5 molecule precursor				ENSP00000342681		11-Mar									COSM3397965	11-Mar	.		ENST00000347785	Transcript			cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	ENSG00000110448	g.chr11:60885944C>A	1685			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=CD5_HUMAN&rb=38&re=133&var=T131N	getma.org/pdb.php?prot=CD5_HUMAN&from=38&to=133&var=T131N	getma.org/?cm=var&var=hg19,11,60885944,C,A&fts=all	T131N	--	--	1																																			1	1		possibly_damaging(0.482)	p.T131N	NM_014207	NP_055022		deleterious(0)	1	CD5_HUMAN	CD5	HGNC	P06127	CD5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)	H6D9U9_HUMAN		3	495	+		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)	UPI000013D472	131			Extracellular (Potential).|SRCR 1.		SNV	CD5,missense_variant,p.Thr131Asn,ENST00000347785,NM_014207.3;CD5,missense_variant,p.Thr131Asn,ENST00000544014,;	uc009ynk.2	c.392C>A	558/3221	2	2			c.392C>A						11	SNP	c.(391-393)ACC>AAC	26	26			ovary(1)	1	Broad	CD5 molecule precursor			60885944		0.607	ENSG00000110448	2965	g.chr11:60885944C>A	cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity							122.40602	KEEP	25	26	0.509803922	40	49	25	26	0.509803922	123.305668	40	49	0.401869	1	0	0	0	0	1	0	0	0	--	--		0	A				202	GBM-27-2524-TP	p.T131N	C	CTGGGCCTGACCTGCTTAGGT	NM_014207	NP_055022	60885944	P06127	CD5_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)	3	495	+	A	A		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)	Missense_Mutation	131			Extracellular (Potential).|SRCR 1.			
CD53	963	broad.mit.edu	GRCh37	1	111439300	111439300	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01	TCGA-06-1804-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271324.5:c.449C>T	p.Thr150Met	p.T150M	ENST00000271324	NM_000560.3	150	aCg/aTg	0	T:0.0002		1			T	T/M	uc001dzw.2	protein_coding	YES	CCDS829.1			449/660										0	c.(448-450)ACG>ATG			hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF39,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,Superfamily_domains:0037997	CD53 antigen			T:0	ENSP00000271324		8-Jun	8.24E-06	9.61E-05							rs369006161,COSM2152511	8-Jun	.		ENST00000271324	Transcript			signal transduction	integral to membrane|plasma membrane		ENSG00000143119	g.chr1:111439300C>T	1686			MODERATE		1.955	medium	getma.org/?cm=msa&ty=f&p=CD53_HUMAN&rb=8&re=210&var=T150M	NA	getma.org/?cm=var&var=hg19,1,111439300,C,T&fts=all	T150M	--	--	1																																		CD53_uc001dzx.2_Missense_Mutation_p.T150M|CD53_uc010owa.1_Intron|CD53_uc001dzy.2_Intron	0,1	1		possibly_damaging(0.735)	p.T150M	NM_001040033	NP_001035122		tolerated(0.09)	0,1	CD53_HUMAN	CD53	HGNC	P19397	CD53_HUMAN		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)			7	620	+		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	UPI000000D991	150			Extracellular (Potential).		SNV	CD53,missense_variant,p.Thr150Met,ENST00000271324,NM_000560.3,NM_001040033.1;CD53,intron_variant,,ENST00000429072,;CD53,intron_variant,,ENST00000497404,;CD53,intron_variant,,ENST00000476408,;CD53,downstream_gene_variant,,ENST00000471220,;CD53,upstream_gene_variant,,ENST00000464329,;	uc001dzw.2	c.449C>T	561/1505	1	1			c.449C>T						1	SNP	c.(448-450)ACG>ATG	1	1				0	Broad	CD53 antigen			111439300		0.428	ENSG00000143119	2967	g.chr1:111439300C>T	signal transduction	integral to membrane|plasma membrane								55.07708	KEEP	10	13	-1	31	22	10	13	-1	56.943654	31	22	0.31746	1	0	0	0	0	1	0	0	0	--	--		0	T			CD53_uc001dzx.2_Missense_Mutation_p.T150M|CD53_uc010owa.1_Intron|CD53_uc001dzy.2_Intron	79	GBM-06-1804-TP	p.T150M	C	ATAAATGGCACGAGTGATTGG	NM_001040033	NP_001035122	111439300	P19397	CD53_HUMAN	0		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)	7	620	+	T	T		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	Missense_Mutation	150			Extracellular (Potential).			
CD55	0	broad.mit.edu	GRCh37	1	207500170	207500170	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367064.3:c.652C>T	p.Pro218Ser	p.P218S	ENST00000367064	NM_000574.3	218	Cca/Tca	0			1			T	P/S	uc001hfq.3	protein_coding		CCDS31006.1			652/1146									ovary(1)	1	c.(652-654)CCA>TCA			PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF319,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	decay accelerating factor for complement isoform	Chloramphenicol(DB00446)			ENSP00000356031		10-May									COSM2154729,COSM2154728,COSM3400249	10-May	.		ENST00000367064	Transcript	1		complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity	ENSG00000196352	g.chr1:207500170C>T	2665			MODERATE		4.3	high	getma.org/?cm=msa&ty=f&p=DAF_HUMAN&rb=163&re=220&var=P218S	getma.org/pdb.php?prot=DAF_HUMAN&from=163&to=220&var=P218S	getma.org/?cm=var&var=hg19,1,207500170,C,T&fts=all	P218S	--	--	1																																		CD55_uc001hfp.3_Missense_Mutation_p.P218S|CD55_uc001hfr.3_Missense_Mutation_p.P218S|CD55_uc010psf.1_RNA|CD55_uc009xcf.2_Missense_Mutation_p.P154S|CD55_uc009xce.2_Missense_Mutation_p.P218S|CD55_uc009xcg.2_5'UTR	1,1,1			probably_damaging(1)	p.P218S	NM_000574	NP_000565		deleterious(0)	1,1,1	DAF_HUMAN	CD55	HGNC	P08174	DAF_HUMAN			Q76N74_HUMAN		5	946	+			UPI0000032E67	218			Sushi 3.		SNV	CD55,missense_variant,p.Pro218Ser,ENST00000367064,NM_000574.3;CD55,missense_variant,p.Pro154Ser,ENST00000391921,;CD55,missense_variant,p.Pro218Ser,ENST00000314754,NM_001114752.1;CD55,missense_variant,p.Pro218Ser,ENST00000367063,;CD55,missense_variant,p.Pro218Ser,ENST00000367065,;CD55,missense_variant,p.Pro218Ser,ENST00000391920,;CD55,missense_variant,p.Pro218Ser,ENST00000367062,;CD55,missense_variant,p.Pro228Ser,ENST00000343420,;CD55,3_prime_UTR_variant,,ENST00000367067,;CD55,non_coding_transcript_exon_variant,,ENST00000465534,;CD55,missense_variant,p.Pro218Ser,ENST00000482390,;CD55,non_coding_transcript_exon_variant,,ENST00000476590,;CD55,non_coding_transcript_exon_variant,,ENST00000488171,;	uc001hfq.3	c.652C>T	910/2760	1	1			c.652C>T						1	SNP	c.(652-654)CCA>TCA	1	1			ovary(1)	1	Broad	decay accelerating factor for complement isoform		Chloramphenicol(DB00446)	207500170		0.403	ENSG00000196352	2968	g.chr1:207500170C>T	complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity							399.438693	KEEP	75	59	-1	79	62	75	59	-1	399.479907	79	62	0.486486	1	0	0	0	0	1	0	0	0	--	--		0	T			CD55_uc001hfp.3_Missense_Mutation_p.P218S|CD55_uc001hfr.3_Missense_Mutation_p.P218S|CD55_uc010psf.1_RNA|CD55_uc009xcf.2_Missense_Mutation_p.P154S|CD55_uc009xce.2_Missense_Mutation_p.P218S|CD55_uc009xcg.2_5'UTR	138	GBM-14-0813-TP	p.P218S	C	TGACCCGTTGCCAGAGTGCAG	NM_000574	NP_000565	207500170	P08174	DAF_HUMAN	0			5	946	+	T	T			Missense_Mutation	218			Sushi 3.			
CD58	0	broad.mit.edu	GRCh37	1	117078713	117078713	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01	TCGA-14-0790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369489.5:c.502C>T	p.Arg168Cys	p.R168C	ENST00000369489	NM_001779.2	168	Cgt/Tgt	0			1			A	R/C	uc001egm.2	protein_coding	YES	CCDS888.1			502/753										0	c.(502-504)CGT>TGT			hmmpanther:PTHR21063,hmmpanther:PTHR21063:SF3	CD58 molecule isoform 1				ENSP00000358501		6-Mar	1.65E-05			0.000116		1.50E-05			rs764273333,COSM3399577	6-Mar	.		ENST00000369489	Transcript			blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding	ENSG00000116815	g.chr1:117078713G>A	1688			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=LFA3_HUMAN&rb=135&re=194&var=R168C	NA	getma.org/?cm=var&var=hg19,1,117078713,G,A&fts=all	R168C	--	--	1																																		CD58_uc001egn.2_RNA|CD58_uc010owy.1_Missense_Mutation_p.R168C|CD58_uc001ego.1_Intron|CD58_uc001egp.3_Missense_Mutation_p.R168C	0,1	1		benign(0.398)	p.R168C	NM_001779	NP_001770		tolerated(0.06)	0,1	LFA3_HUMAN	CD58	HGNC	P19256	LFA3_HUMAN		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)			3	623	-	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)	UPI000004D166	168			Extracellular (Potential).|Ig-like C2-type.		SNV	CD58,missense_variant,p.Arg168Cys,ENST00000457047,NM_001144822.1;CD58,missense_variant,p.Arg168Cys,ENST00000369489,NM_001779.2;CD58,missense_variant,p.Arg168Cys,ENST00000369487,;CD58,intron_variant,,ENST00000526981,;CD58,missense_variant,p.Arg168Cys,ENST00000464088,;NAP1L4P1,upstream_gene_variant,,ENST00000319092,;	uc001egm.2	c.502C>T	569/1098	1	1			c.502C>T						1	SNP	c.(502-504)CGT>TGT	64	64				0	Broad	CD58 molecule isoform 1			117078713		0.343	ENSG00000116815	2969	g.chr1:117078713G>A	blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding							230.901485	KEEP	28	55	-1	51	54	28	55	-1	231.463203	51	54	0.438596	1	0	0	0	0	1	0	0	0	--	--		0	A			CD58_uc001egn.2_RNA|CD58_uc010owy.1_Missense_Mutation_p.R168C|CD58_uc001ego.1_Intron|CD58_uc001egp.3_Missense_Mutation_p.R168C	137	GBM-14-0790-TP	p.R168C	G	GTTGAGTTACGTTTACATTGC	NM_001779	NP_001770	117078713	P19256	LFA3_HUMAN	0		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)	3	623	-	A	A	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)	Missense_Mutation	168			Extracellular (Potential).|Ig-like C2-type.			
CD59	0	broad.mit.edu	GRCh37	11	33731856	33731856	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-41-2575-01	TCGA-41-2575-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000351554.3:c.203A>G	p.Glu68Gly	p.E68G	ENST00000351554		68	gAg/gGg	0			1			C	E/G	uc001mus.3	protein_coding		CCDS7886.1			203/387										0	c.(202-204)GAG>GGG			Gene3D:2.10.60.10,Pfam_domain:PF00021,PROSITE_patterns:PS00983,hmmpanther:PTHR10036,hmmpanther:PTHR10036:SF6,SMART_domains:SM00134,Superfamily_domains:SSF57302	CD59 antigen preproprotein				ENSP00000340210		5-May									COSM3397647	5-May	.		ENST00000351554	Transcript	1		blood coagulation|cell surface receptor linked signaling pathway	anchored to external side of plasma membrane|extracellular region|membrane fraction		ENSG00000085063	g.chr11:33731856T>C	1689			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=CD59_HUMAN&rb=28&re=95&var=E68G	getma.org/pdb.php?prot=CD59_HUMAN&from=28&to=95&var=E68G	getma.org/?cm=var&var=hg19,11,33731856,T,C&fts=all	E68G	--	--	1																																		CD59_uc009yjx.2_Missense_Mutation_p.E68G|CD59_uc009yjy.2_Missense_Mutation_p.E68G|CD59_uc009yjz.2_Missense_Mutation_p.E68G|CD59_uc001mut.3_Missense_Mutation_p.E68G|CD59_uc009yka.2_Missense_Mutation_p.E68G|CD59_uc001muu.3_Missense_Mutation_p.E68G|CD59_uc001muv.3_Missense_Mutation_p.E68G|CD59_uc001mux.3_Missense_Mutation_p.S109G	1			benign(0.144)	p.E68G	NM_001127223	NP_001120695		tolerated(0.09)	1	CD59_HUMAN	CD59	HGNC	P13987	CD59_HUMAN			Q6FHM9_HUMAN		3	485	-			UPI0000127386	68			UPAR/Ly6.		SNV	CD59,missense_variant,p.Glu68Gly,ENST00000395850,NM_001127227.1,NM_203331.2,NM_001127226.1,NM_001127225.1,NM_203329.2,NM_203330.2,NM_000611.5;CD59,missense_variant,p.Glu68Gly,ENST00000415002,NM_001127223.1;CD59,missense_variant,p.Ser109Gly,ENST00000533403,;CD59,missense_variant,p.Glu68Gly,ENST00000351554,;CD59,missense_variant,p.Glu68Gly,ENST00000445143,;CD59,missense_variant,p.Glu68Gly,ENST00000437761,;CD59,missense_variant,p.Glu68Gly,ENST00000426650,;CD59,missense_variant,p.Glu68Gly,ENST00000527577,;CD59,missense_variant,p.Glu68Gly,ENST00000528700,;CD59,missense_variant,p.Glu68Gly,ENST00000534312,;CD59,missense_variant,p.Glu68Gly,ENST00000525763,;CD59,missense_variant,p.Glu68Gly,ENST00000527926,;CD59,non_coding_transcript_exon_variant,,ENST00000528987,;CD59,upstream_gene_variant,,ENST00000533181,;	uc001mus.3	c.203A>G	330/1775	3	3			c.203A>G						11	SNP	c.(202-204)GAG>GGG	59	59				0	Broad	CD59 antigen preproprotein			33731856		0.433	ENSG00000085063	2970	g.chr11:33731856T>C	blood coagulation|cell surface receptor linked signaling pathway	anchored to external side of plasma membrane|extracellular region|membrane fraction								-17.766622	KEEP	1	3	-1	70	42	1	3	-1	6.770786	70	42	0.029703	1	0	0	0	0	1	0	0	0	--	--		0	C			CD59_uc009yjx.2_Missense_Mutation_p.E68G|CD59_uc009yjy.2_Missense_Mutation_p.E68G|CD59_uc009yjz.2_Missense_Mutation_p.E68G|CD59_uc001mut.3_Missense_Mutation_p.E68G|CD59_uc009yka.2_Missense_Mutation_p.E68G|CD59_uc001muu.3_Missense_Mutation_p.E68G|CD59_uc001muv.3_Missense_Mutation_p.E68G|CD59_uc001mux.3_Missense_Mutation_p.S109G	253	GBM-41-2575-TP	p.E68G	T	ATTGCAATGCTCAAACTTCCA	NM_001127223	NP_001120695	33731856	P13987	CD59_HUMAN	0			3	485	-	C	C			Missense_Mutation	68			UPAR/Ly6.			
CD5L	922	broad.mit.edu	GRCh37	1	157805716	157805716	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0743-01	TCGA-06-0743-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368174.4:c.285T>C	p.Ser95=	p.S95=	ENST00000368174	NM_005894.2	95	agT/agC	0			1			G	S	uc001frk.3	protein_coding	YES	CCDS1171.1			285/1044									ovary(1)	1	c.(283-285)AGT>AGC			Gene3D:3.10.250.10,Pfam_domain:PF00530,PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF246,SMART_domains:SM00202,Superfamily_domains:SSF56487	CD5 molecule-like precursor				ENSP00000357156		6-Mar									COSM3399833	6-Mar	.		ENST00000368174	Transcript			apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	ENSG00000073754	g.chr1:157805716A>G	1690			LOW								--	--	1																																			1	1			p.S95S	NM_005894	NP_005885			1	CD5L_HUMAN	CD5L	HGNC	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)				3	428	-	all_hematologic(112;0.0378)		UPI000012738C	95			SRCR 1.		SNV	CD5L,synonymous_variant,p.=,ENST00000368174,NM_005894.2;CD5L,downstream_gene_variant,,ENST00000484609,;	uc001frk.3	c.285T>C	382/2191	3	3			c.285T>C						1	SNP	c.(283-285)AGT>AGC	15	15			ovary(1)	1	Broad	CD5 molecule-like precursor			157805716		0.493	ENSG00000073754	2971	g.chr1:157805716A>G	apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity							29.563658	KEEP	18	13	-1	139	202	18	13	-1	87.342837	139	202	0.090643	1	0	0	0	0	0	0	1	0	--	--		0	G				65	GBM-06-0743-TP	p.S95S	A	TTCCTGTGCAACTGACTGATT	NM_005894	NP_005885	157805716	O43866	CD5L_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.24)		3	428	-	G	G	all_hematologic(112;0.0378)		Silent	95			SRCR 1.			
CD5L	0	broad.mit.edu	GRCh37	1	157804444	157804444	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-5139-01	TCGA-26-5139-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368174.4:c.471C>T	p.Asn157=	p.N157=	ENST00000368174	NM_005894.2	157	aaC/aaT	0			1			A	N	uc001frk.3	protein_coding	YES	CCDS1171.1			471/1044									ovary(1)	1	c.(469-471)AAC>AAT			Gene3D:3.10.250.10,Pfam_domain:PF00530,PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF246,SMART_domains:SM00202,Superfamily_domains:SSF56487	CD5 molecule-like precursor				ENSP00000357156		6-Apr									COSM2157170	6-Apr	.		ENST00000368174	Transcript			apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	ENSG00000073754	g.chr1:157804444G>A	1690			LOW								--	--	1																																			1	1			p.N157N	NM_005894	NP_005885			1	CD5L_HUMAN	CD5L	HGNC	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)				4	614	-	all_hematologic(112;0.0378)		UPI000012738C	157			SRCR 2.		SNV	CD5L,synonymous_variant,p.=,ENST00000368174,NM_005894.2;CD5L,downstream_gene_variant,,ENST00000484609,;	uc001frk.3	c.471C>T	568/2191	1	1			c.471C>T						1	SNP	c.(469-471)AAC>AAT	49	49			ovary(1)	1	Broad	CD5 molecule-like precursor			157804444		0.622	ENSG00000073754	2971	g.chr1:157804444G>A	apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity							202.67486	KEEP	51	50	-1	88	80	51	50	-1	205.712355	88	80	0.374429	1	0	0	0	0	0	0	1	0	--	--		0	A				186	GBM-26-5139-TP	p.N157N	G	TATACCACTGGTTCTGGTGCT	NM_005894	NP_005885	157804444	O43866	CD5L_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.24)		4	614	-	A	A	all_hematologic(112;0.0378)		Silent	157			SRCR 2.			
CD5L	0	broad.mit.edu	GRCh37	1	157804375	157804375	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-27-2526-01	TCGA-27-2526-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368174.4:c.540A>G	p.Gly180=	p.G180=	ENST00000368174	NM_005894.2	180	ggA/ggG	0			1			C	G	uc001frk.3	protein_coding	YES	CCDS1171.1			540/1044									ovary(1)	1	c.(538-540)GGA>GGG			Gene3D:3.10.250.10,Pfam_domain:PF00530,Prints_domain:PR00258,PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF246,SMART_domains:SM00202,Superfamily_domains:SSF56487	CD5 molecule-like precursor				ENSP00000357156		6-Apr									COSM3747798	6-Apr	.		ENST00000368174	Transcript			apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	ENSG00000073754	g.chr1:157804375T>C	1690			LOW								--	--	1																																			1	1			p.G180G	NM_005894	NP_005885			1	CD5L_HUMAN	CD5L	HGNC	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)				4	683	-	all_hematologic(112;0.0378)		UPI000012738C	180			SRCR 2.		SNV	CD5L,synonymous_variant,p.=,ENST00000368174,NM_005894.2;CD5L,downstream_gene_variant,,ENST00000484609,;	uc001frk.3	c.540A>G	637/2191	3	3			c.540A>G						1	SNP	c.(538-540)GGA>GGG	16	16			ovary(1)	1	Broad	CD5 molecule-like precursor			157804375		0.587	ENSG00000073754	2971	g.chr1:157804375T>C	apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity							-28.205578	KEEP	5	4	-1	78	69	5	4	-1	6.414089	78	69	0.028369	1	0	0	0	0	0	0	1	0	--	--		0	C				203	GBM-27-2526-TP	p.G180G	T	CCCTCCCACATCCCAGCTGCC	NM_005894	NP_005885	157804375	O43866	CD5L_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.24)		4	683	-	C	C	all_hematologic(112;0.0378)		Silent	180			SRCR 2.			
CD6	923	broad.mit.edu	GRCh37	11	60739382	60739382	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-1804-01	TCGA-06-1804-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313421.7:c.45C>A	p.Leu15=	p.L15=	ENST00000313421	NM_006725.4	15	ctC/ctA	0			1			A	L	uc001nqq.2	protein_coding	YES	CCDS7999.1			45/2007									pancreas(1)	1	c.(43-45)CTC>CTA			Cleavage_site_(Signalp):SignalP-noTM	CD6 molecule precursor				ENSP00000323280		13-Jan									COSM2152475,COSM2152474	13-Jan	.		ENST00000313421	Transcript			cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	ENSG00000013725	g.chr11:60739382C>A	1691			LOW								--	--	1																																		CD6_uc009yni.2_Silent_p.L15L|CD6_uc009ynj.2_Silent_p.L15L|CD6_uc001nqp.2_Silent_p.L15L|CD6_uc001nqr.2_Silent_p.L15L|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Silent_p.L15L	1,1	1			p.L15L	NM_006725	NP_006716			1,1	CD6_HUMAN	CD6	HGNC	P30203	CD6_HUMAN					1	268	+			UPI000013F532	15					SNV	CD6,synonymous_variant,p.=,ENST00000313421,NM_006725.4;CD6,synonymous_variant,p.=,ENST00000344028,NM_001254750.1;CD6,synonymous_variant,p.=,ENST00000346437,;CD6,synonymous_variant,p.=,ENST00000352009,;CD6,synonymous_variant,p.=,ENST00000452451,NM_001254751.1;CD6,synonymous_variant,p.=,ENST00000433107,;CD6,synonymous_variant,p.=,ENST00000542157,;CD6,non_coding_transcript_exon_variant,,ENST00000545105,;CD6,non_coding_transcript_exon_variant,,ENST00000545320,;CD6,synonymous_variant,p.=,ENST00000344931,;CD6,synonymous_variant,p.=,ENST00000542254,;	uc001nqq.2	c.45C>A	231/3252	2	2			c.45C>A						11	SNP	c.(43-45)CTC>CTA	36	36			pancreas(1)	1	Broad	CD6 molecule precursor			60739382		0.602	ENSG00000013725	2972	g.chr11:60739382C>A	cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	Pancreas(169;904 2017 4767 38890 42505)			Pancreas(169;904 2017 4767 38890 42505)			50.856087	KEEP	8	12	0.6	11	15	8	12	0.6	50.909271	11	15	0.463415	1	0	0	0	0	0	0	1	0	--	--		0	A			CD6_uc009yni.2_Silent_p.L15L|CD6_uc009ynj.2_Silent_p.L15L|CD6_uc001nqp.2_Silent_p.L15L|CD6_uc001nqr.2_Silent_p.L15L|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Silent_p.L15L	79	GBM-06-1804-TP	p.L15L	C	CGGCAGCCCTCTCAGGTAGGC	NM_006725	NP_006716	60739382	P30203	CD6_HUMAN	0			1	268	+	A	A			Silent	15						
CD6	923	broad.mit.edu	GRCh37	11	60780934	60780934	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6388-01	TCGA-06-6388-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313421.7:c.1190G>A	p.Arg397Gln	p.R397Q	ENST00000313421	NM_006725.4	397	cGg/cAg	0			1			A	R/Q	uc001nqq.2	protein_coding	YES	CCDS7999.1			1190/2007									pancreas(1)	1	c.(1189-1191)CGG>CAG			hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF252	CD6 molecule precursor				ENSP00000323280		13-Jul	1.65E-05					3.00E-05			rs760527334,COSM3397955,COSM3397956	13-Jul	.		ENST00000313421	Transcript			cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	ENSG00000013725	g.chr11:60780934G>A	1691			MODERATE		1.21	low	getma.org/?cm=msa&ty=f&p=CD6_HUMAN&rb=362&re=561&var=R397Q	NA	getma.org/?cm=var&var=hg19,11,60780934,G,A&fts=all	R397Q	--	--	1																																		CD6_uc009yni.2_Missense_Mutation_p.R296Q|CD6_uc009ynj.2_Missense_Mutation_p.R274Q|CD6_uc001nqp.2_Missense_Mutation_p.R397Q|CD6_uc001nqr.2_Missense_Mutation_p.R397Q|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Missense_Mutation_p.R397Q	0,1,1	1		benign(0.01)	p.R397Q	NM_006725	NP_006716		tolerated(0.28)	0,1,1	CD6_HUMAN	CD6	HGNC	P30203	CD6_HUMAN					7	1413	+			UPI000013F532	397			Extracellular (Potential).		SNV	CD6,missense_variant,p.Arg397Gln,ENST00000313421,NM_006725.4;CD6,missense_variant,p.Arg397Gln,ENST00000344028,NM_001254750.1;CD6,missense_variant,p.Arg397Gln,ENST00000346437,;CD6,missense_variant,p.Arg397Gln,ENST00000352009,;CD6,missense_variant,p.Arg397Gln,ENST00000452451,NM_001254751.1;CD6,missense_variant,p.Arg296Gln,ENST00000433107,;CD6,missense_variant,p.Arg274Gln,ENST00000542157,;CD6,missense_variant,p.Arg140Gln,ENST00000538611,;CD6,non_coding_transcript_exon_variant,,ENST00000545105,;CD6,missense_variant,p.Arg397Gln,ENST00000344931,;CD6,upstream_gene_variant,,ENST00000505761,;CD6,downstream_gene_variant,,ENST00000541964,;CD6,upstream_gene_variant,,ENST00000419282,;	uc001nqq.2	c.1190G>A	1376/3252	1	1			c.1190G>A						11	SNP	c.(1189-1191)CGG>CAG	56	56			pancreas(1)	1	Broad	CD6 molecule precursor			60780934		0.443	ENSG00000013725	2972	g.chr11:60780934G>A	cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	Pancreas(169;904 2017 4767 38890 42505)			Pancreas(169;904 2017 4767 38890 42505)			-47.972094	KEEP	5	1	-1	121	123	5	1	-1	9.119311	121	123	0.026087	1	0	0	0	0	1	0	0	0	--	--		0	A			CD6_uc009yni.2_Missense_Mutation_p.R296Q|CD6_uc009ynj.2_Missense_Mutation_p.R274Q|CD6_uc001nqp.2_Missense_Mutation_p.R397Q|CD6_uc001nqr.2_Missense_Mutation_p.R397Q|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Missense_Mutation_p.R397Q	104	GBM-06-6388-TP	p.R397Q	G	AAGGAATCTCGGGAGCTAATG	NM_006725	NP_006716	60780934	P30203	CD6_HUMAN	0			7	1413	+	A	A			Missense_Mutation	397			Extracellular (Potential).			
CD6	0	broad.mit.edu	GRCh37	11	60785322	60785322	+	synonymous_variant	Silent	SNP	G	G	C	rs137857404		TCGA-32-4213-01	TCGA-32-4213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313421.7:c.1674G>C	p.Pro558=	p.P558=	ENST00000313421	NM_006725.4	558	ccG/ccC	0			1			C	P	uc001nqq.2	protein_coding	YES	CCDS7999.1			1674/2007									pancreas(1)	1	c.(1672-1674)CCG>CCC			hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF252	CD6 molecule precursor				ENSP00000323280		13-Nov									COSM3397957,COSM3397958	13-Nov	.		ENST00000313421	Transcript			cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	ENSG00000013725	g.chr11:60785322G>C	1691			LOW								--	--	1																																		CD6_uc001nqp.2_Silent_p.P558P|CD6_uc001nqr.2_Silent_p.P526P|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Silent_p.P517P	1,1	1			p.P558P	NM_006725	NP_006716			1,1	CD6_HUMAN	CD6	HGNC	P30203	CD6_HUMAN					11	1897	+			UPI000013F532	558			Cytoplasmic (Potential).		SNV	CD6,synonymous_variant,p.=,ENST00000313421,NM_006725.4;CD6,synonymous_variant,p.=,ENST00000344028,NM_001254750.1;CD6,synonymous_variant,p.=,ENST00000346437,;CD6,synonymous_variant,p.=,ENST00000352009,;CD6,synonymous_variant,p.=,ENST00000452451,NM_001254751.1;CD6,downstream_gene_variant,,ENST00000433107,;CD6,downstream_gene_variant,,ENST00000542157,;CD6,downstream_gene_variant,,ENST00000538611,;CD6,downstream_gene_variant,,ENST00000545105,;CD6,3_prime_UTR_variant,,ENST00000344931,;CD6,non_coding_transcript_exon_variant,,ENST00000505761,;CD6,downstream_gene_variant,,ENST00000419282,;	uc001nqq.2	c.1674G>C	1860/3252	3	3			c.1674G>C						11	SNP	c.(1672-1674)CCG>CCC	60	60			pancreas(1)	1	Broad	CD6 molecule precursor			60785322		0.552	ENSG00000013725	2972	g.chr11:60785322G>C	cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	Pancreas(169;904 2017 4767 38890 42505)			Pancreas(169;904 2017 4767 38890 42505)			153.053914	KEEP	17	33	-1	56	83	17	33	-1	160.538397	56	83	0.278107	1	0	0	0	0	0	0	1	0	--	--		0	C			CD6_uc001nqp.2_Silent_p.P558P|CD6_uc001nqr.2_Silent_p.P526P|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Silent_p.P517P	247	GBM-32-4213-TP	p.P558P	G	AGTATCACCCGAGGAGCAACA	NM_006725	NP_006716	60785322	P30203	CD6_HUMAN	0			11	1897	+	C	C			Silent	558			Cytoplasmic (Potential).			
CD6	0	broad.mit.edu	GRCh37	11	60786743	60786743	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-41-3392-01	TCGA-41-3392-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313421.7:c.1960C>G	p.Pro654Ala	p.P654A	ENST00000313421	NM_006725.4	654	Cct/Gct	0			1			G	P/A	uc001nqq.2	protein_coding	YES	CCDS7999.1			1960/2007									pancreas(1)	1	c.(1960-1962)CCT>GCT			hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF252	CD6 molecule precursor				ENSP00000323280		13/13									COSM3397959,COSM3397960	13/13	.		ENST00000313421	Transcript			cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	ENSG00000013725	g.chr11:60786743C>G	1691			MODERATE		0.205	neutral	getma.org/?cm=msa&ty=f&p=CD6_HUMAN&rb=562&re=668&var=P654A	NA	getma.org/?cm=var&var=hg19,11,60786743,C,G&fts=all	P654A	--	--	1																																		CD6_uc001nqr.2_Missense_Mutation_p.P587A|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Missense_Mutation_p.P578A	1,1	1		benign(0.024)	p.P654A	NM_006725	NP_006716		tolerated(0.07)	1,1	CD6_HUMAN	CD6	HGNC	P30203	CD6_HUMAN					13	2183	+			UPI000013F532	654			Cytoplasmic (Potential).		SNV	CD6,missense_variant,p.Pro654Ala,ENST00000313421,NM_006725.4;CD6,missense_variant,p.Pro622Ala,ENST00000344028,NM_001254750.1;CD6,missense_variant,p.Pro581Ala,ENST00000346437,;CD6,missense_variant,p.Pro587Ala,ENST00000352009,;CD6,missense_variant,p.Pro578Ala,ENST00000452451,NM_001254751.1;CD6,downstream_gene_variant,,ENST00000433107,;CD6,3_prime_UTR_variant,,ENST00000344931,;CD6,non_coding_transcript_exon_variant,,ENST00000505761,;CD6,downstream_gene_variant,,ENST00000419282,;	uc001nqq.2	c.1960C>G	2146/3252	4	4			c.1960C>G						11	SNP	c.(1960-1962)CCT>GCT	22	22			pancreas(1)	1	Broad	CD6 molecule precursor			60786743		0.657	ENSG00000013725	2972	g.chr11:60786743C>G	cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	Pancreas(169;904 2017 4767 38890 42505)			Pancreas(169;904 2017 4767 38890 42505)			49.910585	KEEP	6	10	-1	18	15	6	10	-1	51.01732	18	15	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	G			CD6_uc001nqr.2_Missense_Mutation_p.P587A|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Missense_Mutation_p.P578A	254	GBM-41-3392-TP	p.P654A	C	CAGCCCTCAGCCTGACTCCAC	NM_006725	NP_006716	60786743	P30203	CD6_HUMAN	0			13	2183	+	G	G			Missense_Mutation	654			Cytoplasmic (Potential).			
CD63	0	broad.mit.edu	GRCh37	12	56120552	56120552	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6700-01	TCGA-06-6700-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257857.4:c.358C>T	p.Arg120Trp	p.R120W	ENST00000257857		120	Cgg/Tgg	0	A:0.0009	A:0	1	A:0		A	R/W	uc001shm.2	protein_coding		CCDS8890.1			358/717										0	c.(358-360)CGG>TGG			Superfamily_domains:0037997,PIRSF_domain:PIRSF002419,Pfam_domain:PF00335,hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF212	CD63 antigen isoform A		A:0.001	A:0.0001	ENSP00000257857	A:0	8-May	8.24E-05	0.000288	8.64E-05	0.000116		5.99E-05		6.06E-05	rs200393279,COSM549037	8-May	.		ENST00000257857	Transcript		A:0.0002	platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane		ENSG00000135404	g.chr12:56120552G>A	1692			MODERATE		1.495	low	getma.org/?cm=msa&ty=f&p=CD63_HUMAN&rb=9&re=231&var=R120W	NA	getma.org/?cm=var&var=hg19,12,56120552,G,A&fts=all	R120W	--	--	1																																		CD63_uc009znz.2_Missense_Mutation_p.R97W|CD63_uc001shn.2_Missense_Mutation_p.R120W|CD63_uc001sho.2_Missense_Mutation_p.R120W|CD63_uc001shp.2_Missense_Mutation_p.R120W	0,1			possibly_damaging(0.773)	p.R120W	NM_001780	NP_001771	A:0	deleterious(0.05)	0,1	CD63_HUMAN	CD63	HGNC	P08962	CD63_HUMAN			F8W022_HUMAN,F8VWK8_HUMAN,F8VV56_HUMAN,F8VNT9_HUMAN		4	454	-			UPI000013CF91	120			Extracellular (Potential).		SNV	CD63,missense_variant,p.Arg120Trp,ENST00000549117,NM_001257389.1;CD63,missense_variant,p.Arg120Trp,ENST00000257857,;CD63,missense_variant,p.Arg120Trp,ENST00000420846,NM_001780.5;CD63,missense_variant,p.Arg120Trp,ENST00000552692,NM_001257391.1;CD63,missense_variant,p.Arg38Trp,ENST00000550776,NM_001257401.1;CD63,missense_variant,p.Arg120Trp,ENST00000552164,NM_001267698.1;CD63,missense_variant,p.Arg120Trp,ENST00000551173,NM_001257390.1;CD63,missense_variant,p.Arg38Trp,ENST00000546939,NM_001257400.1;CD63,missense_variant,p.Arg27Trp,ENST00000548898,;CD63,missense_variant,p.Arg97Trp,ENST00000552754,NM_001257392.1;CD63,missense_variant,p.Arg27Trp,ENST00000548160,;CD63,missense_variant,p.Arg27Trp,ENST00000552067,;CD63,missense_variant,p.Arg120Trp,ENST00000546457,;RP11-644F5.10,downstream_gene_variant,,ENST00000550412,;RDH5,downstream_gene_variant,,ENST00000257895,NM_001199771.1,NM_002905.3;RDH5,downstream_gene_variant,,ENST00000548082,;RDH5,downstream_gene_variant,,ENST00000547072,;RDH5,downstream_gene_variant,,ENST00000552930,;RP11-644F5.10,downstream_gene_variant,,ENST00000549424,;RP11-644F5.11,upstream_gene_variant,,ENST00000552576,;RDH5,downstream_gene_variant,,ENST00000553160,;CD63,3_prime_UTR_variant,,ENST00000550050,;RDH5,downstream_gene_variant,,ENST00000550608,;RP11-644F5.10,downstream_gene_variant,,ENST00000551946,;RDH5,downstream_gene_variant,,ENST00000551444,;RDH5,downstream_gene_variant,,ENST00000548486,;RDH5,downstream_gene_variant,,ENST00000553187,;RDH5,downstream_gene_variant,,ENST00000548123,;RDH5,downstream_gene_variant,,ENST00000547301,;CD63,upstream_gene_variant,,ENST00000548117,;CD63,upstream_gene_variant,,ENST00000555199,;	uc001shm.2	c.358C>T	637/1070	1	1			c.358C>T						12	SNP	c.(358-360)CGG>TGG	64	64				0	Broad	CD63 antigen isoform A			56120552		0.557	ENSG00000135404	2973	g.chr12:56120552G>A	platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane		Pancreas(123;1459 1747 6717 18841 37380)			Pancreas(123;1459 1747 6717 18841 37380)			61.421714	KEEP	12	19	-1	52	49	12	19	-1	70.077739	52	49	0.215517	1	0	0	0	0	1	0	0	0	--	--		0	A			CD63_uc009znz.2_Missense_Mutation_p.R97W|CD63_uc001shn.2_Missense_Mutation_p.R120W|CD63_uc001sho.2_Missense_Mutation_p.R120W|CD63_uc001shp.2_Missense_Mutation_p.R120W	114	GBM-06-6700-TP	p.R120W	G	ATCTGCTGCCGGAAGTTGTTA	NM_001780	NP_001771	56120552	P08962	CD63_HUMAN	0			4	454	-	A	A			Missense_Mutation	120			Extracellular (Potential).			
CD70	0	broad.mit.edu	GRCh37	19	6586314	6586314	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5139-01	TCGA-26-5139-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245903.3:c.299G>A	p.Arg100His	p.R100H	ENST00000245903	NM_001252.3	100	cGt/cAt	0			1			T	R/H	uc002mfi.2	protein_coding	YES	CCDS12170.1			299/582										0	c.(298-300)CGT>CAT			Gene3D:2.60.120.40,Pfam_domain:PF00229,PROSITE_patterns:PS00251,PROSITE_profiles:PS50049,hmmpanther:PTHR15152,hmmpanther:PTHR15152:SF0,SMART_domains:SM00207,Superfamily_domains:SSF49842	tumor necrosis factor ligand superfamily, member				ENSP00000245903		3-Mar	1.65E-05		8.66E-05			1.50E-05			rs757012345,COSM2157191	3-Mar	.		ENST00000245903	Transcript			cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to membrane of membrane fraction|integral to plasma membrane	cytokine activity|protease binding|tumor necrosis factor receptor binding	ENSG00000125726	g.chr19:6586314C>T	11937			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=CD70_HUMAN&rb=73&re=191&var=R100H	NA	getma.org/?cm=var&var=hg19,19,6586314,C,T&fts=all	R100H	--	--	1																																		CD70_uc010xjf.1_Missense_Mutation_p.R100H	0,1	1		probably_damaging(0.954)	p.R100H	NM_001252	NP_001243		tolerated(0.13)	0,1	CD70_HUMAN	CD70	HGNC	P32970	CD70_HUMAN			Q53XX4_HUMAN,M0QZW2_HUMAN		3	449	-			UPI00001370B6	100			Extracellular (Potential).		SNV	CD70,missense_variant,p.Arg100His,ENST00000245903,NM_001252.3;CD70,missense_variant,p.Arg100His,ENST00000423145,;CD70,downstream_gene_variant,,ENST00000597430,;	uc002mfi.2	c.299G>A	449/913	2	2			c.299G>A						19	SNP	c.(298-300)CGT>CAT	24	24				0	Broad	tumor necrosis factor ligand superfamily, member			6586314		0.642	ENSG00000125726	2977	g.chr19:6586314C>T	cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to membrane of membrane fraction|integral to plasma membrane	cytokine activity|protease binding|tumor necrosis factor receptor binding	Pancreas(183;2617 2876 10173 34193)			Pancreas(183;2617 2876 10173 34193)			62.130149	KEEP	17	17	-1	41	51	17	17	-1	67.881113	41	51	0.268908	1	0	0	0	0	1	0	0	0	--	--		0	T			CD70_uc010xjf.1_Missense_Mutation_p.R100H	186	GBM-26-5139-TP	p.R100H	C	GATGCCATCACGATGGATACG	NM_001252	NP_001243	6586314	P32970	CD70_HUMAN	0			3	449	-	T	T			Missense_Mutation	100			Extracellular (Potential).			
CD79B	0	broad.mit.edu	GRCh37	17	62007651	62007651	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6191-01	TCGA-76-6191-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000006750.3:c.213C>T	p.Ser71=	p.S71=	ENST00000006750	NM_021602.2	71	tcC/tcT	0			1			A	S	uc002jdq.1	protein_coding		CCDS11655.1			213/690	Mis|O				DLBCL					0	c.(211-213)TCC>TCT			Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR14334,hmmpanther:PTHR14334:SF2,PROSITE_profiles:PS50835	CD79B antigen isoform 1 precursor				ENSP00000006750		6-Mar	8.24E-06					1.50E-05			rs756340178,COSM1130201	6-Mar	.		ENST00000006750	Transcript	1		cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity	ENSG00000007312	g.chr17:62007651G>A	1699			LOW								--	--	1																																		CD79B_uc002jdo.1_Silent_p.S45S|CD79B_uc002jdp.1_Silent_p.S72S|CD79B_uc002jdr.1_Intron	0,1				p.S71S	NM_000626	NP_000617			0,1	CD79B_HUMAN	CD79B	HGNC	P40259	CD79B_HUMAN					3	296	-			UPI000011C13D	71			Extracellular (Potential).|Ig-like V-type.		SNV	CD79B,synonymous_variant,p.=,ENST00000006750,NM_021602.2,NM_000626.2;CD79B,synonymous_variant,p.=,ENST00000392795,NM_001039933.1;CD79B,intron_variant,,ENST00000349817,;CD79B,non_coding_transcript_exon_variant,,ENST00000559358,;CD79B,downstream_gene_variant,,ENST00000558969,;CD79B,downstream_gene_variant,,ENST00000583260,;	uc002jdq.1	c.213C>T	306/1269	1	1			c.213C>T	Mis|O				DLBCL	17	SNP	c.(211-213)TCC>TCT	62	62				0	Broad	CD79B antigen isoform 1 precursor			62007651		0.567	ENSG00000007312	2981	g.chr17:62007651G>A	cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity			62			62	57.79457	KEEP	9	11	-1	11	22	9	11	-1	58.528287	11	22	0.372549	1	0	0	0	0	0	0	1	0	--	--		0	A			CD79B_uc002jdo.1_Silent_p.S45S|CD79B_uc002jdp.1_Silent_p.S72S|CD79B_uc002jdr.1_Intron	274	GBM-76-6191-TP	p.S71S	G	TCACATTGCCGGAGGCGCTGT	NM_000626	NP_000617	62007651	P40259	CD79B_HUMAN	0			3	296	-	A	A			Silent	71			Extracellular (Potential).|Ig-like V-type.			
CD86	942	broad.mit.edu	GRCh37	3	121828238	121828238	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5413-01	TCGA-06-5413-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330540.2:c.830G>A	p.Arg277His	p.R277H	ENST00000330540	NM_175862.4	277	cGc/cAc	0			1			A	R/H	uc003eet.2	protein_coding	YES	CCDS3009.1			830/990									pancreas(1)|skin(1)	2	c.(829-831)CGC>CAC			hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF203	CD86 antigen isoform 1	Abatacept(DB01281)			ENSP00000332049		7-May	8.24E-06			0.000116					rs750874477,COSM1037075	7-May	.		ENST00000330540	Transcript			interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	ENSG00000114013	g.chr3:121828238G>A	1705			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CD86_HUMAN&rb=237&re=329&var=R277H	NA	getma.org/?cm=var&var=hg19,3,121828238,G,A&fts=all	R277H	--	--	1																																		CD86_uc011bjo.1_Missense_Mutation_p.R195H|CD86_uc011bjp.1_Missense_Mutation_p.R165H|CD86_uc003eeu.2_Missense_Mutation_p.R271H	0,1	1		benign(0.049)	p.R277H	NM_175862	NP_787058		tolerated(0.26)	0,1	CD86_HUMAN	CD86	HGNC	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	C9JXS1_HUMAN		5	946	+			UPI00001AFC7C	277			Cytoplasmic (Potential).		SNV	CD86,missense_variant,p.Arg277His,ENST00000330540,NM_175862.4;CD86,missense_variant,p.Arg64His,ENST00000264468,;CD86,missense_variant,p.Arg195His,ENST00000469710,NM_001206925.1;CD86,missense_variant,p.Arg165His,ENST00000493101,NM_001206924.1;CD86,missense_variant,p.Arg271His,ENST00000393627,NM_006889.4;CD86,intron_variant,,ENST00000478741,;CD86,downstream_gene_variant,,ENST00000482356,;	uc003eet.2	c.830G>A	946/2708	2	2			c.830G>A						3	SNP	c.(829-831)CGC>CAC	35	35			pancreas(1)|skin(1)	2	Broad	CD86 antigen isoform 1		Abatacept(DB01281)	121828238		0.468	ENSG00000114013	2987	g.chr3:121828238G>A	interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	GBM(67;1379 1389 36064 39806)			GBM(67;1379 1389 36064 39806)			94.571707	KEEP	22	18	-1	52	58	22	18	-1	99.854461	52	58	0.282258	1	0	0	0	0	1	0	0	0	--	--		0	A			CD86_uc011bjo.1_Missense_Mutation_p.R195H|CD86_uc011bjp.1_Missense_Mutation_p.R165H|CD86_uc003eeu.2_Missense_Mutation_p.R271H	96	GBM-06-5413-TP	p.R277H	G	AAGCGGCCTCGCAACTCTTAT	NM_175862	NP_787058	121828238	P42081	CD86_HUMAN	0		GBM - Glioblastoma multiforme(114;0.156)	5	946	+	A	A			Missense_Mutation	277			Cytoplasmic (Potential).			
CD86	0	broad.mit.edu	GRCh37	3	121822548	121822548	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01	TCGA-28-1753-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330540.2:c.254G>A	p.Arg85His	p.R85H	ENST00000330540	NM_175862.4	85	cGc/cAc	0			1			A	R/H	uc003eet.2	protein_coding	YES	CCDS3009.1			254/990									pancreas(1)|skin(1)	2	c.(253-255)CGC>CAC			PROSITE_profiles:PS50835,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF203,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726	CD86 antigen isoform 1	Abatacept(DB01281)			ENSP00000332049		7-Mar									COSM3408174	7-Mar	.		ENST00000330540	Transcript			interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	ENSG00000114013	g.chr3:121822548G>A	1705			MODERATE		3.38	medium	getma.org/?cm=msa&ty=f&p=CD86_HUMAN&rb=18&re=130&var=R85H	getma.org/pdb.php?prot=CD86_HUMAN&from=18&to=130&var=R85H	getma.org/?cm=var&var=hg19,3,121822548,G,A&fts=all	R85H	--	--	1																																		CD86_uc011bjo.1_Missense_Mutation_p.R3H|CD86_uc011bjp.1_Intron|CD86_uc003eeu.2_Missense_Mutation_p.R79H	1	1		probably_damaging(1)	p.R85H	NM_175862	NP_787058		deleterious(0)	1	CD86_HUMAN	CD86	HGNC	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	C9JXS1_HUMAN		3	370	+			UPI00001AFC7C	85			Ig-like V-type.|Extracellular (Potential).		SNV	CD86,missense_variant,p.Arg85His,ENST00000330540,NM_175862.4;CD86,missense_variant,p.Arg3His,ENST00000469710,NM_001206925.1;CD86,missense_variant,p.Arg79His,ENST00000393627,NM_006889.4;CD86,missense_variant,p.Arg81His,ENST00000478741,;CD86,missense_variant,p.Arg79His,ENST00000482356,;CD86,intron_variant,,ENST00000264468,;CD86,intron_variant,,ENST00000493101,NM_001206924.1;CD86,downstream_gene_variant,,ENST00000483949,;	uc003eet.2	c.254G>A	370/2708	1	1			c.254G>A						3	SNP	c.(253-255)CGC>CAC	55	55			pancreas(1)|skin(1)	2	Broad	CD86 antigen isoform 1		Abatacept(DB01281)	121822548		0.423	ENSG00000114013	2987	g.chr3:121822548G>A	interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	GBM(67;1379 1389 36064 39806)			GBM(67;1379 1389 36064 39806)			-50.586949	KEEP	3	4	-1	125	120	3	4	-1	8.720479	125	120	0.021552	1	0	0	0	0	1	0	0	0	--	--		0	A			CD86_uc011bjo.1_Missense_Mutation_p.R3H|CD86_uc011bjp.1_Intron|CD86_uc003eeu.2_Missense_Mutation_p.R79H	207	GBM-28-1753-TP	p.R85H	G	TATATGGGCCGCACAAGTTTT	NM_175862	NP_787058	121822548	P42081	CD86_HUMAN	0		GBM - Glioblastoma multiforme(114;0.156)	3	370	+	A	A			Missense_Mutation	85			Ig-like V-type.|Extracellular (Potential).			
CD93	22918	broad.mit.edu	GRCh37	20	23065723	23065723	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2569-01	TCGA-06-2569-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000246006.4:c.1107C>T	p.Cys369=	p.C369=	ENST00000246006	NM_012072.3	369	tgC/tgT	0			1			A	C	uc002wsv.2	protein_coding	YES	CCDS13149.1			1107/1959									large_intestine(2)	2	c.(1105-1107)TGC>TGT			PROSITE_profiles:PS50026,hmmpanther:PTHR24838,hmmpanther:PTHR24838:SF261,PROSITE_patterns:PS00010,Gene3D:2.10.25.10,PIRSF_domain:PIRSF001775,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184	CD93 antigen precursor				ENSP00000246006		2-Jan									COSM3404977	2-Jan	.		ENST00000246006	Transcript			cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	ENSG00000125810	g.chr20:23065723G>A	15855			LOW								--	--	1																																			1	1			p.C369C	NM_012072	NP_036204			1	C1QR1_HUMAN	CD93	HGNC	Q9NPY3	C1QR1_HUMAN					1	1255	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		UPI00001273BC	369			Extracellular (Potential).|EGF-like 3; calcium-binding (Potential).		SNV	CD93,synonymous_variant,p.=,ENST00000246006,NM_012072.3;AL118508.1,upstream_gene_variant,,ENST00000539654,;	uc002wsv.2	c.1107C>T	1255/6708	2	2			c.1107C>T						20	SNP	c.(1105-1107)TGC>TGT	42	42			large_intestine(2)	2	Broad	CD93 antigen precursor			23065723		0.642	ENSG00000125810	2991	g.chr20:23065723G>A	cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding							2.129739	KEEP	3	2	-1	35	35	3	2	-1	11.672656	35	35	0.089286	1	0	0	0	0	0	0	1	0	--	--		0	A				90	GBM-06-2569-TP	p.C369C	G	AGCCAACCCAGCATTCGCAGC	NM_012072	NP_036204	23065723	Q9NPY3	C1QR1_HUMAN	0			1	1255	-	A	A	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		Silent	369			Extracellular (Potential).|EGF-like 3; calcium-binding (Potential).			
CD93	0	broad.mit.edu	GRCh37	20	23065459	23065459	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-5132-01	TCGA-26-5132-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000246006.4:c.1371C>T	p.Gly457=	p.G457=	ENST00000246006	NM_012072.3	457	ggC/ggT	0			1			A	G	uc002wsv.2	protein_coding	YES	CCDS13149.1			1371/1959									large_intestine(2)	2	c.(1369-1371)GGC>GGT			hmmpanther:PTHR24838,hmmpanther:PTHR24838:SF261,PROSITE_patterns:PS01186,Pfam_domain:PF07645,Gene3D:2.10.25.10,PIRSF_domain:PIRSF001775,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196	CD93 antigen precursor				ENSP00000246006		2-Jan									COSM2156916	2-Jan	.		ENST00000246006	Transcript			cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	ENSG00000125810	g.chr20:23065459G>A	15855			LOW								--	--	1																																			1	1			p.G457G	NM_012072	NP_036204			1	C1QR1_HUMAN	CD93	HGNC	Q9NPY3	C1QR1_HUMAN					1	1519	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		UPI00001273BC	457			Extracellular (Potential).|EGF-like 5; calcium-binding (Potential).		SNV	CD93,synonymous_variant,p.=,ENST00000246006,NM_012072.3;AL118508.1,upstream_gene_variant,,ENST00000539654,;	uc002wsv.2	c.1371C>T	1519/6708	2	2			c.1371C>T						20	SNP	c.(1369-1371)GGC>GGT	43	43			large_intestine(2)	2	Broad	CD93 antigen precursor			23065459		0.632	ENSG00000125810	2991	g.chr20:23065459G>A	cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding							167.599752	KEEP	27	42	-1	53	68	27	42	-1	170.586224	53	68	0.355828	1	0	0	0	0	0	0	1	0	--	--		0	A				181	GBM-26-5132-TP	p.G457G	G	CCAGCACCCAGCCTGGCAGGC	NM_012072	NP_036204	23065459	Q9NPY3	C1QR1_HUMAN	0			1	1519	-	A	A	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		Silent	457			Extracellular (Potential).|EGF-like 5; calcium-binding (Potential).			
CD93	0	broad.mit.edu	GRCh37	20	23065129	23065129	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6285-01	TCGA-76-6285-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000246006.4:c.1701C>T	p.Ser567=	p.S567=	ENST00000246006	NM_012072.3	567	tcC/tcT	0		A:0	1	A:0.0014		A	S	uc002wsv.2	protein_coding	YES	CCDS13149.1			1701/1959									large_intestine(2)	2	c.(1699-1701)TCC>TCT				CD93 antigen precursor		A:0		ENSP00000246006	A:0	2-Jan	0.000198		0.00164			6.00E-05		6.06E-05	rs546513788,COSM3404976	2-Jan	common_variant		ENST00000246006	Transcript		A:0.0002	cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	ENSG00000125810	g.chr20:23065129G>A	15855			LOW								--	--	1																																			0,1	1			p.S567S	NM_012072	NP_036204	A:0		0,1	C1QR1_HUMAN	CD93	HGNC	Q9NPY3	C1QR1_HUMAN					1	1849	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		UPI00001273BC	567			Extracellular (Potential).		SNV	CD93,synonymous_variant,p.=,ENST00000246006,NM_012072.3;AL118508.1,upstream_gene_variant,,ENST00000539654,;	uc002wsv.2	c.1701C>T	1849/6708	2	2			c.1701C>T						20	SNP	c.(1699-1701)TCC>TCT	25	25			large_intestine(2)	2	Broad	CD93 antigen precursor			23065129		0.637	ENSG00000125810	2991	g.chr20:23065129G>A	cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding							128.618297	KEEP	20	25	-1	40	33	20	25	-1	129.619648	40	33	0.396226	1	0	0	0	0	0	0	1	0	--	--		0	A				280	GBM-76-6285-TP	p.S567S	G	GTGTGGCCACGGAGGAGTCCC	NM_012072	NP_036204	23065129	Q9NPY3	C1QR1_HUMAN	0			1	1849	-	A	A	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		Silent	567			Extracellular (Potential).			
CD96	10225	broad.mit.edu	GRCh37	3	111264248	111264248	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283285.5:c.417C>T		p.X139_splice	ENST00000283285	NM_198196.2	139	caC/caT	0	T:0.0002		1			T	H	uc003dxw.2	protein_coding	YES	CCDS2959.1			417/1758									skin(2)|central_nervous_system(1)	3	c.(415-417)CAC>CAT			Gene3D:2.60.40.10,hmmpanther:PTHR15317,hmmpanther:PTHR15317:SF0	CD96 antigen isoform 1 precursor			T:0.0001	ENSP00000283285		15-Feb	3.30E-05	0.000104				1.56E-05		0.000123	rs368182013,COSM2149083	15-Feb	.	Opitz_Trigonocephaly_syndrome	ENST00000283285	Transcript	1		cell adhesion|immune response|regulation of immune response	integral to plasma membrane		ENSG00000153283	g.chr3:111264248C>T	16892			LOW								--	--	1																																		CD96_uc003dxv.2_Silent_p.H139H|CD96_uc003dxx.2_Silent_p.H139H|CD96_uc010hpy.1_Silent_p.H139H	0,1	1			p.H139H	NM_198196	NP_937839			0,1	TACT_HUMAN	CD96	HGNC	P40200	TACT_HUMAN			U3KPT0_HUMAN		2	587	+			UPI000013DD36	139			Extracellular (Potential).		SNV	CD96,splice_region_variant,p.=,ENST00000352690,NM_005816.4;CD96,splice_region_variant,p.=,ENST00000283285,NM_198196.2;CD96,splice_region_variant,p.=,ENST00000438817,;CD96,downstream_gene_variant,,ENST00000460744,;CD96,splice_region_variant,p.=,ENST00000494798,;CD96,intron_variant,,ENST00000488054,;	uc003dxw.2	c.417C>T	548/4324	2	2			c.417C>T						3	SNP	c.(415-417)CAC>CAT	45	45			skin(2)|central_nervous_system(1)	3	Broad	CD96 antigen isoform 1 precursor			111264248	Opitz_Trigonocephaly_syndrome	0.418	ENSG00000153283	2992	g.chr3:111264248C>T	cell adhesion|immune response|regulation of immune response	integral to plasma membrane								49.789693	KEEP	12	8	-1	25	36	12	8	-1	53.421645	25	36	0.263889	1	0	0	0	0	0	0	1	0	--	--		0	T			CD96_uc003dxv.2_Silent_p.H139H|CD96_uc003dxx.2_Silent_p.H139H|CD96_uc010hpy.1_Silent_p.H139H	5	GBM-02-2470-TP	p.H139H	C	TTCAGACACACGGTAAGCATA	NM_198196	NP_937839	111264248	P40200	TACT_HUMAN	0			2	587	+	T	T			Silent	139			Extracellular (Potential).			
CD96	10225	broad.mit.edu	GRCh37	3	111356989	111356989	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140955483		TCGA-06-2565-01	TCGA-06-2565-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283285.5:c.1499C>T	p.Thr500Met	p.T500M	ENST00000283285	NM_198196.2	500	aCg/aTg	0	T:0.0005	T:0.0008	1	T:0		T	T/M	uc003dxw.2	protein_coding	YES	CCDS2959.1			1499/1758									skin(2)|central_nervous_system(1)	3	c.(1498-1500)ACG>ATG			hmmpanther:PTHR15317,hmmpanther:PTHR15317:SF0	CD96 antigen isoform 1 precursor		T:0	T:0.0001	ENSP00000283285	T:0	13/15	0.000115	0.00048	8.64E-05			8.99E-05		0.000121	rs140955483,COSM2153026	13/15	common_variant	Opitz_Trigonocephaly_syndrome	ENST00000283285	Transcript	1	T:0.0004	cell adhesion|immune response|regulation of immune response	integral to plasma membrane		ENSG00000153283	g.chr3:111356989C>T	16892			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=TACT_HUMAN&rb=360&re=522&var=T500M	NA	getma.org/?cm=var&var=hg19,3,111356989,C,T&fts=all	T500M	--	--	1																																		CD96_uc003dxx.2_Missense_Mutation_p.T484M|CD96_uc010hpy.1_Missense_Mutation_p.T483M	0,1	1		benign(0.031)	p.T500M	NM_198196	NP_937839	T:0.001	deleterious(0)	0,1	TACT_HUMAN	CD96	HGNC	P40200	TACT_HUMAN			U3KPT0_HUMAN		13	1669	+			UPI000013DD36	500			Extracellular (Potential).|Pro/Ser/Thr-rich.		SNV	CD96,missense_variant,p.Thr484Met,ENST00000352690,NM_005816.4;CD96,missense_variant,p.Thr500Met,ENST00000283285,NM_198196.2;CD96,missense_variant,p.Thr483Met,ENST00000494798,;RP11-402J7.2,downstream_gene_variant,,ENST00000489836,;	uc003dxw.2	c.1499C>T	1630/4324	2	2			c.1499C>T						3	SNP	c.(1498-1500)ACG>ATG	17	17			skin(2)|central_nervous_system(1)	3	Broad	CD96 antigen isoform 1 precursor			111356989	Opitz_Trigonocephaly_syndrome	0.338	ENSG00000153283	2992	g.chr3:111356989C>T	cell adhesion|immune response|regulation of immune response	integral to plasma membrane								243.04123	KEEP	42	58	-1	59	55	42	58	-1	243.303584	59	55	0.45679	1	0	0	0	0	1	0	0	0	--	--		0	T			CD96_uc003dxx.2_Missense_Mutation_p.T484M|CD96_uc010hpy.1_Missense_Mutation_p.T483M	88	GBM-06-2565-TP	p.T500M	C	AATGGATCTACGAAAACTAAT	NM_198196	NP_937839	111356989	P40200	TACT_HUMAN	0			13	1669	+	T	T			Missense_Mutation	500			Extracellular (Potential).|Pro/Ser/Thr-rich.			
CD96	0	broad.mit.edu	GRCh37	3	111356983	111356983	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-2571-01	TCGA-41-2571-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283285.5:c.1493G>A	p.Gly498Glu	p.G498E	ENST00000283285	NM_198196.2	498	gGa/gAa	0			1			A	G/E	uc003dxw.2	protein_coding	YES	CCDS2959.1			1493/1758									skin(2)|central_nervous_system(1)	3	c.(1492-1494)GGA>GAA			hmmpanther:PTHR15317,hmmpanther:PTHR15317:SF0	CD96 antigen isoform 1 precursor				ENSP00000283285		13/15									COSM3408111	13/15	.	Opitz_Trigonocephaly_syndrome	ENST00000283285	Transcript	1		cell adhesion|immune response|regulation of immune response	integral to plasma membrane		ENSG00000153283	g.chr3:111356983G>A	16892			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=TACT_HUMAN&rb=360&re=522&var=G498E	NA	getma.org/?cm=var&var=hg19,3,111356983,G,A&fts=all	G498E	--	--	1																																		CD96_uc003dxx.2_Missense_Mutation_p.G482E|CD96_uc010hpy.1_Missense_Mutation_p.G481E	1	1		benign(0.018)	p.G498E	NM_198196	NP_937839		tolerated(0.37)	1	TACT_HUMAN	CD96	HGNC	P40200	TACT_HUMAN			U3KPT0_HUMAN		13	1663	+			UPI000013DD36	498			Extracellular (Potential).|Pro/Ser/Thr-rich.		SNV	CD96,missense_variant,p.Gly482Glu,ENST00000352690,NM_005816.4;CD96,missense_variant,p.Gly498Glu,ENST00000283285,NM_198196.2;CD96,missense_variant,p.Gly481Glu,ENST00000494798,;RP11-402J7.2,downstream_gene_variant,,ENST00000489836,;	uc003dxw.2	c.1493G>A	1624/4324	1	1			c.1493G>A						3	SNP	c.(1492-1494)GGA>GAA	49	49			skin(2)|central_nervous_system(1)	3	Broad	CD96 antigen isoform 1 precursor			111356983	Opitz_Trigonocephaly_syndrome	0.348	ENSG00000153283	2992	g.chr3:111356983G>A	cell adhesion|immune response|regulation of immune response	integral to plasma membrane								168.222016	KEEP	29	45	-1	59	87	29	45	-1	171.703412	59	87	0.345455	1	0	0	0	0	1	0	0	0	--	--		0	A			CD96_uc003dxx.2_Missense_Mutation_p.G482E|CD96_uc010hpy.1_Missense_Mutation_p.G481E	250	GBM-41-2571-TP	p.G498E	G	ACTGCCAATGGATCTACGAAA	NM_198196	NP_937839	111356983	P40200	TACT_HUMAN	0			13	1663	+	A	A			Missense_Mutation	498			Extracellular (Potential).|Pro/Ser/Thr-rich.			
CD97	0	broad.mit.edu	GRCh37	19	14513618	14513618	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01	TCGA-41-2572-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000242786.5:c.1393G>A	p.Ala465Thr	p.A465T	ENST00000242786	NM_078481.3	465	Gcc/Acc	0			1			A	A/T	uc002myl.2	protein_coding	YES	CCDS32929.1			1393/2508									ovary(3)|breast(1)	4	c.(1393-1395)GCC>ACC			hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF253	CD97 antigen isoform 1 precursor				ENSP00000242786		20-Dec	8.24E-06					1.50E-05			rs775651358,COSM3403827	20-Dec	.		ENST00000242786	Transcript			cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	ENSG00000123146	g.chr19:14513618G>A	1711			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CD97_HUMAN&rb=457&re=490&var=A465T	NA	getma.org/?cm=var&var=hg19,19,14513618,G,A&fts=all	A465T	--	--	1																																		CD97_uc002mym.2_Missense_Mutation_p.A416T|CD97_uc002myn.2_Missense_Mutation_p.A372T	0,1	1		benign(0.015)	p.A465T	NM_078481	NP_510966		tolerated(1)	0,1	CD97_HUMAN	CD97	HGNC	P48960	CD97_HUMAN					12	1516	+			UPI0000161C9A	465			Extracellular (Potential).		SNV	CD97,missense_variant,p.Ala465Thr,ENST00000242786,NM_078481.3;CD97,missense_variant,p.Ala416Thr,ENST00000357355,NM_001025160.2;CD97,missense_variant,p.Ala372Thr,ENST00000358600,NM_001784.4;CD97,downstream_gene_variant,,ENST00000586517,;CTC-548K16.5,non_coding_transcript_exon_variant,,ENST00000590626,;CD97,upstream_gene_variant,,ENST00000591565,;CD97,downstream_gene_variant,,ENST00000586849,;CD97,downstream_gene_variant,,ENST00000591737,;CD97,downstream_gene_variant,,ENST00000593028,;CD97,downstream_gene_variant,,ENST00000590567,;CD97,downstream_gene_variant,,ENST00000592341,;CD97,downstream_gene_variant,,ENST00000587319,;	uc002myl.2	c.1393G>A	1473/3188	2	2			c.1393G>A						19	SNP	c.(1393-1395)GCC>ACC	41	41			ovary(3)|breast(1)	4	Broad	CD97 antigen isoform 1 precursor			14513618		0.527	ENSG00000123146	2993	g.chr19:14513618G>A	cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding							259.909013	KEEP	48	65	-1	109	116	48	65	-1	266.378539	109	116	0.339223	1	0	0	0	0	1	0	0	0	--	--		0	A			CD97_uc002mym.2_Missense_Mutation_p.A416T|CD97_uc002myn.2_Missense_Mutation_p.A372T	251	GBM-41-2572-TP	p.A465T	G	CATCCTTTTCGCCTTCTCCCA	NM_078481	NP_510966	14513618	P48960	CD97_HUMAN	0			12	1516	+	A	A			Missense_Mutation	465			Extracellular (Potential).			
CD99L2	0	broad.mit.edu	GRCh37	X	149963729	149963729	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-12-0619-01	TCGA-12-0619-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370377.3:c.380A>G	p.Asp127Gly	p.D127G	ENST00000370377	NM_031462.3	127	gAt/gGt	0			1			C	D/G	uc004fel.2	protein_coding	YES	CCDS35427.1			380/789									large_intestine(2)|ovary(1)	3	c.(379-381)GAT>GGT			Low_complexity_(Seg):seg,Pfam_domain:PF12301,hmmpanther:PTHR15076,hmmpanther:PTHR15076:SF13	CD99 antigen-like 2 isoform E3'-E4'-E3-E4				ENSP00000359403		11-Jun									COSM2153628	11-Jun	.		ENST00000370377	Transcript			cell adhesion	cell junction|integral to membrane		ENSG00000102181	g.chrX:149963729T>C	18237			MODERATE		0.795	neutral	getma.org/?cm=msa&ty=f&p=C99L2_HUMAN&rb=92&re=239&var=D127G	NA	getma.org/?cm=var&var=hg19,X,149963729,T,C&fts=all	D127G	--	--	1																																		CD99L2_uc004fek.2_RNA|CD99L2_uc004fem.2_Missense_Mutation_p.D78G|CD99L2_uc004fen.2_Missense_Mutation_p.D55G|CD99L2_uc004feo.2_RNA|CD99L2_uc011myb.1_Intron	1	1		benign(0.022)	p.D127G	NM_031462	NP_113650		tolerated(0.06)	1	C99L2_HUMAN	CD99L2	HGNC	Q8TCZ2	C99L2_HUMAN					6	498	-	Acute lymphoblastic leukemia(192;6.56e-05)		UPI0000034CC0	127			Extracellular (Potential).		SNV	CD99L2,missense_variant,p.Asp127Gly,ENST00000370377,NM_031462.3,NM_001242614.1;CD99L2,missense_variant,p.Asp55Gly,ENST00000355149,NM_134445.3,NM_134446.3;CD99L2,missense_variant,p.Asp78Gly,ENST00000466436,;CD99L2,missense_variant,p.Asp90Gly,ENST00000418547,;CD99L2,intron_variant,,ENST00000437787,NM_001184808.1;CD99L2,non_coding_transcript_exon_variant,,ENST00000346693,;	uc004fel.2	c.380A>G	498/3604	3	3			c.380A>G						23	SNP	c.(379-381)GAT>GGT	3	3			large_intestine(2)|ovary(1)	3	Broad	CD99 antigen-like 2 isoform E3'-E4'-E3-E4			149963729		0.448	ENSG00000102181	2994	g.chrX:149963729T>C	cell adhesion	cell junction|integral to membrane								167.64562	KEEP	33	35	-1	104	128	33	35	-1	185.940012	104	128	0.22179	1	0	0	0	0	1	0	0	0	--	--		0	C			CD99L2_uc004fek.2_RNA|CD99L2_uc004fem.2_Missense_Mutation_p.D78G|CD99L2_uc004fen.2_Missense_Mutation_p.D55G|CD99L2_uc004feo.2_RNA|CD99L2_uc011myb.1_Intron	120	GBM-12-0619-TP	p.D127G	T	ATCATTTCGATCATCCAGGGC	NM_031462	NP_113650	149963729	Q8TCZ2	C99L2_HUMAN	0			6	498	-	C	C	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	127			Extracellular (Potential).			
CDA	0	broad.mit.edu	GRCh37	1	20945033	20945033	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375071.3:c.413G>A	p.Gly138Glu	p.G138E	ENST00000375071	NM_001785.2	138	gGg/gAg	0			1			A	G/E	uc001bdk.2	protein_coding	YES	CCDS210.1			413/441									ovary(1)	1	c.(412-414)GGG>GAG			Gene3D:3.40.140.10,hmmpanther:PTHR11644,Superfamily_domains:SSF53927,TIGRFAM_domain:TIGR01354	cytidine deaminase	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)			ENSP00000364212		4-Apr									COSM2156053	4-Apr	.		ENST00000375071	Transcript			cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding	ENSG00000158825	g.chr1:20945033G>A	1712			MODERATE		2.55	medium	getma.org/?cm=msa&ty=f&p=CDD_HUMAN&rb=89&re=146&var=G138E	getma.org/pdb.php?prot=CDD_HUMAN&from=119&to=146&var=G138E	getma.org/?cm=var&var=hg19,1,20945033,G,A&fts=all	G138E	--	--	1																																		CDA_uc001bdl.2_RNA|CDA_uc009vpv.2_RNA	1	1		probably_damaging(0.95)	p.G138E	NM_001785	NP_001776		deleterious(0.02)	1	CDD_HUMAN	CDA	HGNC	P32320	CDD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Q71UE9_HUMAN		4	592	+		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	UPI0000127406	138					SNV	CDA,missense_variant,p.Gly138Glu,ENST00000375071,NM_001785.2;CDA,non_coding_transcript_exon_variant,,ENST00000461985,;	uc001bdk.2	c.413G>A	595/963	1	1			c.413G>A						1	SNP	c.(412-414)GGG>GAG	55	55			ovary(1)	1	Broad	cytidine deaminase		Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	20945033		0.542	ENSG00000158825	2995	g.chr1:20945033G>A	cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding	Pancreas(74;49 1356 2772 27818 40529)			Pancreas(74;49 1356 2772 27818 40529)			50.327033	KEEP	6	15	-1	27	23	6	15	-1	52.921081	27	23	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	A			CDA_uc001bdl.2_RNA|CDA_uc009vpv.2_RNA	160	GBM-19-1790-TP	p.G138E	G	TCCTCCTTTGGGCCTGAGGAC	NM_001785	NP_001776	20945033	P32320	CDD_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	4	592	+	A	A		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	138						
CDA	978		GRCh37	1	20944980	20944980	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000375071.3:c.360G>A	p.Pro120=	p.P120=	ENST00000375071	NM_001785.2	120	ccG/ccA	0																																																																																																																																																																																																																																												
CDADC1	0	broad.mit.edu	GRCh37	13	49865831	49865831	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-14-0790-01	TCGA-14-0790-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251108.6:c.1483A>C	p.Arg495=	p.R495=	ENST00000251108	NM_001193478.1	495	Aga/Cga	0			1			C	R	uc001vcu.2	protein_coding	YES	CCDS9415.1			1483/1545									upper_aerodigestive_tract(1)	1	c.(1483-1485)AGA>CGA			hmmpanther:PTHR11086,hmmpanther:PTHR11086:SF14	cytidine and dCMP deaminase domain containing 1				ENSP00000251108		10-Oct									COSM3399407	10-Oct	.		ENST00000251108	Transcript					hydrolase activity|zinc ion binding	ENSG00000102543	g.chr13:49865831A>C	20299			LOW								--	--	1																																		CDADC1_uc010tgk.1_Silent_p.R297R|CDADC1_uc001vcv.2_RNA	1	1			p.R495R	NM_030911	NP_112173			1	CDAC1_HUMAN	CDADC1	HGNC	Q9BWV3	CDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)	G8JLM2_HUMAN		10	1559	+		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	UPI0000073EF4	495					SNV	CDADC1,synonymous_variant,p.=,ENST00000251108,NM_001193478.1,NM_030911.3;CDADC1,synonymous_variant,p.=,ENST00000444959,;	uc001vcu.2	c.1483A>C	1596/3383	3	3			c.1483A>C						13	SNP	c.(1483-1485)AGA>CGA	61	61			upper_aerodigestive_tract(1)	1	Broad	cytidine and dCMP deaminase domain containing 1			49865831		0.488	ENSG00000102543	2996	g.chr13:49865831A>C			hydrolase activity|zinc ion binding							238.130448	KEEP	53	39	-1	68	66	53	39	-1	240.017517	68	66	0.394872	1	0	0	0	0	0	0	1	0	--	--		0	C			CDADC1_uc010tgk.1_Silent_p.R297R|CDADC1_uc001vcv.2_RNA	137	GBM-14-0790-TP	p.R495R	A	TGGTGTGTTGAGACCTGTCCC	NM_030911	NP_112173	49865831	Q9BWV3	CDAC1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)	10	1559	+	C	C		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	Silent	495						
CDAN1	146059		GRCh37	15	43028860	43028860	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000356231.3:c.209del	p.Pro70ArgfsTer112	p.P70Rfs*112	ENST00000356231	NM_138477.2	70	cCg/cg	0																																																																																																																																																																																																																																												
CDC20B	0	broad.mit.edu	GRCh37	5	54423154	54423154	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01	TCGA-27-1831-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381375.2:c.920G>A	p.Arg307Gln	p.R307Q	ENST00000381375		307	cGg/cAg	0	T:0	T:0	1	T:0.0014		T	R/Q	uc003jpo.1	protein_coding	YES	CCDS54852.1			920/1560										0	c.(919-921)CGG>CAG			PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR19918:SF4,hmmpanther:PTHR19918,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	CDC20 cell division cycle 20 homolog B isoform		T:0	T:0.0001	ENSP00000370781	T:0	12-Aug	0.00028		0.00121			0.000285		6.06E-05	rs200952851,COSM293443,COSM3410313,COSM3855597	12-Aug	common_variant		ENST00000381375	Transcript		T:0.0004				ENSG00000164287	g.chr5:54423154C>T	24222			MODERATE		0.475	neutral	getma.org/?cm=msa&ty=f&p=CD20B_HUMAN&rb=210&re=349&var=R307Q	getma.org/pdb.php?prot=CD20B_HUMAN&from=210&to=349&var=R307Q	getma.org/?cm=var&var=hg19,5,54423154,C,T&fts=all	R307Q	--	--	1																																		CDC20B_uc003jpn.1_Missense_Mutation_p.R307Q|CDC20B_uc010ivu.1_Missense_Mutation_p.R307Q|CDC20B_uc010ivv.1_Missense_Mutation_p.R307Q	0,1,1,1	1		benign(0.019)	p.R307Q	NM_152623	NP_689836	T:0.001	tolerated(0.08)	0,1,1,1	CD20B_HUMAN	CDC20B	HGNC	Q86Y33	CD20B_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.225)				8	1095	-		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	UPI0000D61625	307			WD 2.		SNV	CDC20B,missense_variant,p.Arg307Gln,ENST00000334206,;CDC20B,missense_variant,p.Arg307Gln,ENST00000296733,NM_001170402.1,NM_152623.2;CDC20B,missense_variant,p.Arg307Gln,ENST00000381375,;CDC20B,missense_variant,p.Arg307Gln,ENST00000322374,NM_001145734.2;CDC20B,missense_variant,p.Arg307Gln,ENST00000513180,;	uc003jpo.1	c.920G>A	1066/2591	1	1			c.920G>A						5	SNP	c.(919-921)CGG>CAG	14	14				0	Broad	CDC20 cell division cycle 20 homolog B isoform			54423154		0.438	ENSG00000164287	3003	g.chr5:54423154C>T										182.491821	KEEP	24	38	-1	54	71	24	38	-1	185.888612	54	71	0.350575	1	0	0	0	0	1	0	0	0	--	--		0	T			CDC20B_uc003jpn.1_Missense_Mutation_p.R307Q|CDC20B_uc010ivu.1_Missense_Mutation_p.R307Q|CDC20B_uc010ivv.1_Missense_Mutation_p.R307Q	190	GBM-27-1831-TP	p.R307Q	C	ATTTCTCAGCCGCTTTTTAGT	NM_152623	NP_689836	54423154	Q86Y33	CD20B_HUMAN	0	LUSC - Lung squamous cell carcinoma(15;0.225)		8	1095	-	T	T		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	Missense_Mutation	307			WD 2.			
CDC23	0	broad.mit.edu	GRCh37	5	137524677	137524677	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-1043-01	TCGA-14-1043-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394886.2:c.1784T>C	p.Val595Ala	p.V595A	ENST00000394886	NM_004661.3	595	gTc/gCc	0			1			G	V/A	uc003lcl.2	protein_coding	YES	CCDS4200.2			1784/1794										0	c.(1783-1785)GTC>GCC				cell division cycle protein 23				ENSP00000378350		16/16									COSM3748286	16/16	.		ENST00000394886	Transcript			anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	ENSG00000094880	g.chr5:137524677A>G	1724			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=CDC23_HUMAN&rb=463&re=597&var=V595A	NA	getma.org/?cm=var&var=hg19,5,137524677,A,G&fts=all	V595A	--	--	1																																			1	1		benign(0.015)	p.V595A	NM_004661	NP_004652		tolerated(0.13)	1	CDC23_HUMAN	CDC23	HGNC	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)				16	1815	-			UPI000020C69D	595					SNV	CDC23,missense_variant,p.Val595Ala,ENST00000394886,NM_004661.3;KIF20A,downstream_gene_variant,,ENST00000394894,NM_005733.2;KIF20A,downstream_gene_variant,,ENST00000508792,;CDC23,non_coding_transcript_exon_variant,,ENST00000464806,;CDC23,downstream_gene_variant,,ENST00000471692,;KIF20A,downstream_gene_variant,,ENST00000502338,;CDC23,downstream_gene_variant,,ENST00000475021,;	uc003lcl.2	c.1784T>C	1815/3153	3	3			c.1784T>C						5	SNP	c.(1783-1785)GTC>GCC	57	57				0	Broad	cell division cycle protein 23			137524677		0.493	ENSG00000094880	3004	g.chr5:137524677A>G	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity							35.043508	KEEP	9	8	-1	28	30	9	8	-1	40.277133	28	30	0.203125	1	0	0	0	0	1	0	0	0	--	--		0	G				143	GBM-14-1043-TP	p.V595A	A	CTATGGCGTGACAGAAGACAA	NM_004661	NP_004652	137524677	Q9UJX2	CDC23_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		16	1815	-	G	G			Missense_Mutation	595						
CDC23	0	broad.mit.edu	GRCh37	5	137548883	137548883	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01	TCGA-19-2631-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394886.2:c.119C>T	p.Ala40Val	p.A40V	ENST00000394886	NM_004661.3	40	gCg/gTg	0			1			A	A/V	uc003lcl.2	protein_coding	YES	CCDS4200.2			119/1794										0	c.(118-120)GCG>GTG			Pfam_domain:PF04049,hmmpanther:PTHR12558,hmmpanther:PTHR12558:SF10	cell division cycle protein 23				ENSP00000378350		16-Jan									COSM3409758,COSM3409759	16-Jan	.		ENST00000394886	Transcript			anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	ENSG00000094880	g.chr5:137548883G>A	1724			MODERATE		-0.045	neutral	getma.org/?cm=msa&ty=f&p=CDC23_HUMAN&rb=22&re=152&var=A40V	NA	getma.org/?cm=var&var=hg19,5,137548883,G,A&fts=all	A40V	--	--	1																																		CDC23_uc003lcm.1_Missense_Mutation_p.A40V	1,1	1		benign(0.009)	p.A40V	NM_004661	NP_004652		tolerated(0.43)	1,1	CDC23_HUMAN	CDC23	HGNC	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)				1	150	-			UPI000020C69D	40					SNV	CDC23,missense_variant,p.Ala40Val,ENST00000394886,NM_004661.3;CDC23,missense_variant,p.Ala40Val,ENST00000394884,;CDC23,missense_variant,p.Ala40Val,ENST00000505120,;CDC23,missense_variant,p.Ala38Val,ENST00000511383,;CDC23,missense_variant,p.Ala40Val,ENST00000483961,;CDC23,non_coding_transcript_exon_variant,,ENST00000482948,;	uc003lcl.2	c.119C>T	150/3153	2	2			c.119C>T						5	SNP	c.(118-120)GCG>GTG	41	41				0	Broad	cell division cycle protein 23			137548883		0.572	ENSG00000094880	3004	g.chr5:137548883G>A	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity							-55.446083	KEEP	3	3	-1	133	161	3	3	-1	7.133599	133	161	0.020576	1	0	0	0	0	1	0	0	0	--	--		0	A			CDC23_uc003lcm.1_Missense_Mutation_p.A40V	167	GBM-19-2631-TP	p.A40V	G	GGTAAGGCCCGCAATAAGCAG	NM_004661	NP_004652	137548883	Q9UJX2	CDC23_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		1	150	-	A	A			Missense_Mutation	40						
CDC27	0	broad.mit.edu	GRCh37	17	45219612	45219612	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-06-6391-01	TCGA-06-6391-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000066544.3:c.1361delT	p.Leu454HisfsTer9	p.L454Hfs*9	ENST00000066544	NM_001256.3	454	cTa/ca	0			1			-	L/X	uc002ild.3	protein_coding		CCDS11509.1			1361/2475									lung(2)|breast(2)|ovary(1)	5	c.(1360-1362)CTAfs			hmmpanther:PTHR12558:SF11,hmmpanther:PTHR12558	cell division cycle protein 27 isoform 2				ENSP00000066544		19-Nov									COSM391535,COSM391534	19-Nov	.		ENST00000066544	Transcript			anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	ENSG00000004897	g.chr17:45219612delA	1728			HIGH								--	--	1																																		CDC27_uc002ile.3_Frame_Shift_Del_p.L460fs|CDC27_uc002ilf.3_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.1_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron	1,1				p.L454fs	NM_001256	NP_001247			1,1	CDC27_HUMAN	CDC27	HGNC	P30260	CDC27_HUMAN			I0EZ72_HUMAN,I0EZ68_HUMAN		11	1488	-			UPI000012722D	454					deletion	CDC27,frameshift_variant,p.Leu454HisfsTer9,ENST00000066544,NM_001256.3,NM_001114091.1;CDC27,frameshift_variant,p.Leu460HisfsTer9,ENST00000531206,;CDC27,frameshift_variant,p.Leu454HisfsTer8,ENST00000527547,;CDC27,frameshift_variant,p.Leu393HisfsTer9,ENST00000446365,;CDC27,downstream_gene_variant,,ENST00000575830,;CDC27,frameshift_variant,p.Leu46HisfsTer8,ENST00000573502,;CDC27,3_prime_UTR_variant,,ENST00000533415,;CDC27,intron_variant,,ENST00000525495,;CDC27,intron_variant,,ENST00000526866,;CDC27,downstream_gene_variant,,ENST00000574304,;	uc002ild.3	c.1361delT	1455/5801	5	5			c.1361delT						17	DEL	c.(1360-1362)CTAfs	1	1			lung(2)|breast(2)|ovary(1)	5	Broad	cell division cycle protein 27 isoform 2			45219612		0.308	ENSG00000004897	3009	g.chr17:45219612delA	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding																				0.14	1	1	0	1	0	0	0	0	0	--	--		0	-			CDC27_uc002ile.3_Frame_Shift_Del_p.L460fs|CDC27_uc002ilf.3_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.1_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron	107	GBM-06-6391-TP	p.L454fs	A	TGCTTTTTGTAGATTAAAGGC	NM_001256	NP_001247	45219612	P30260	CDC27_HUMAN	0			11	1488	-	-	-			Frame_Shift_Del	454						
CDC27	0	broad.mit.edu	GRCh37	17	45219612	45219612	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-12-0619-01	TCGA-12-0619-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000066544.3:c.1361delT	p.Leu454HisfsTer9	p.L454Hfs*9	ENST00000066544	NM_001256.3	454	cTa/ca	0			1			-	L/X	uc002ild.3	protein_coding		CCDS11509.1			1361/2475									lung(2)|breast(2)|ovary(1)	5	c.(1360-1362)CTAfs			hmmpanther:PTHR12558:SF11,hmmpanther:PTHR12558	cell division cycle protein 27 isoform 2				ENSP00000066544		19-Nov									COSM391535,COSM391534	19-Nov	.		ENST00000066544	Transcript			anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	ENSG00000004897	g.chr17:45219612delA	1728			HIGH								--	--	1																																		CDC27_uc002ile.3_Frame_Shift_Del_p.L460fs|CDC27_uc002ilf.3_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.1_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron	1,1				p.L454fs	NM_001256	NP_001247			1,1	CDC27_HUMAN	CDC27	HGNC	P30260	CDC27_HUMAN			I0EZ72_HUMAN,I0EZ68_HUMAN		11	1488	-			UPI000012722D	454					deletion	CDC27,frameshift_variant,p.Leu454HisfsTer9,ENST00000066544,NM_001256.3,NM_001114091.1;CDC27,frameshift_variant,p.Leu460HisfsTer9,ENST00000531206,;CDC27,frameshift_variant,p.Leu454HisfsTer8,ENST00000527547,;CDC27,frameshift_variant,p.Leu393HisfsTer9,ENST00000446365,;CDC27,downstream_gene_variant,,ENST00000575830,;CDC27,frameshift_variant,p.Leu46HisfsTer8,ENST00000573502,;CDC27,3_prime_UTR_variant,,ENST00000533415,;CDC27,intron_variant,,ENST00000525495,;CDC27,intron_variant,,ENST00000526866,;CDC27,downstream_gene_variant,,ENST00000574304,;	uc002ild.3	c.1361delT	1455/5801	5	5			c.1361delT						17	DEL	c.(1360-1362)CTAfs	1	1			lung(2)|breast(2)|ovary(1)	5	Broad	cell division cycle protein 27 isoform 2			45219612		0.308	ENSG00000004897	3009	g.chr17:45219612delA	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding																				0.11	1	1	0	1	0	0	0	0	0	--	--		0	-			CDC27_uc002ile.3_Frame_Shift_Del_p.L460fs|CDC27_uc002ilf.3_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.1_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron	120	GBM-12-0619-TP	p.L454fs	A	TGCTTTTTGTAGATTAAAGGC	NM_001256	NP_001247	45219612	P30260	CDC27_HUMAN	0			11	1488	-	-	-			Frame_Shift_Del	454						
CDC27	0	broad.mit.edu	GRCh37	17	45219612	45219612	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-32-4211-01	TCGA-32-4211-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000066544.3:c.1361delT	p.Leu454HisfsTer9	p.L454Hfs*9	ENST00000066544	NM_001256.3	454	cTa/ca	0			1			-	L/X	uc002ild.3	protein_coding		CCDS11509.1			1361/2475									lung(2)|breast(2)|ovary(1)	5	c.(1360-1362)CTAfs			hmmpanther:PTHR12558:SF11,hmmpanther:PTHR12558	cell division cycle protein 27 isoform 2				ENSP00000066544		19-Nov									COSM391535,COSM391534	19-Nov	.		ENST00000066544	Transcript			anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	ENSG00000004897	g.chr17:45219612delA	1728			HIGH								--	--	1																																		CDC27_uc002ile.3_Frame_Shift_Del_p.L460fs|CDC27_uc002ilf.3_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.1_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron	1,1				p.L454fs	NM_001256	NP_001247			1,1	CDC27_HUMAN	CDC27	HGNC	P30260	CDC27_HUMAN			I0EZ72_HUMAN,I0EZ68_HUMAN		11	1488	-			UPI000012722D	454					deletion	CDC27,frameshift_variant,p.Leu454HisfsTer9,ENST00000066544,NM_001256.3,NM_001114091.1;CDC27,frameshift_variant,p.Leu460HisfsTer9,ENST00000531206,;CDC27,frameshift_variant,p.Leu454HisfsTer8,ENST00000527547,;CDC27,frameshift_variant,p.Leu393HisfsTer9,ENST00000446365,;CDC27,downstream_gene_variant,,ENST00000575830,;CDC27,frameshift_variant,p.Leu46HisfsTer8,ENST00000573502,;CDC27,3_prime_UTR_variant,,ENST00000533415,;CDC27,intron_variant,,ENST00000525495,;CDC27,intron_variant,,ENST00000526866,;CDC27,downstream_gene_variant,,ENST00000574304,;	uc002ild.3	c.1361delT	1455/5801	5	5			c.1361delT						17	DEL	c.(1360-1362)CTAfs	1	1			lung(2)|breast(2)|ovary(1)	5	Broad	cell division cycle protein 27 isoform 2			45219612		0.308	ENSG00000004897	3009	g.chr17:45219612delA	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding																				0.12	1	1	0	1	0	0	0	0	0	--	--		0	-			CDC27_uc002ile.3_Frame_Shift_Del_p.L460fs|CDC27_uc002ilf.3_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.1_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron	246	GBM-32-4211-TP	p.L454fs	A	TGCTTTTTGTAGATTAAAGGC	NM_001256	NP_001247	45219612	P30260	CDC27_HUMAN	0			11	1488	-	-	-			Frame_Shift_Del	454						
CDC27	0	broad.mit.edu	GRCh37	17	45219612	45219612	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-41-3393-01	TCGA-41-3393-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000066544.3:c.1361delT	p.Leu454HisfsTer9	p.L454Hfs*9	ENST00000066544	NM_001256.3	454	cTa/ca	0			1			-	L/X	uc002ild.3	protein_coding		CCDS11509.1			1361/2475									lung(2)|breast(2)|ovary(1)	5	c.(1360-1362)CTAfs			hmmpanther:PTHR12558:SF11,hmmpanther:PTHR12558	cell division cycle protein 27 isoform 2				ENSP00000066544		19-Nov									COSM391535,COSM391534	19-Nov	.		ENST00000066544	Transcript			anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	ENSG00000004897	g.chr17:45219612delA	1728			HIGH								--	--	1																																		CDC27_uc002ile.3_Frame_Shift_Del_p.L460fs|CDC27_uc002ilf.3_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.1_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron	1,1				p.L454fs	NM_001256	NP_001247			1,1	CDC27_HUMAN	CDC27	HGNC	P30260	CDC27_HUMAN			I0EZ72_HUMAN,I0EZ68_HUMAN		11	1488	-			UPI000012722D	454					deletion	CDC27,frameshift_variant,p.Leu454HisfsTer9,ENST00000066544,NM_001256.3,NM_001114091.1;CDC27,frameshift_variant,p.Leu460HisfsTer9,ENST00000531206,;CDC27,frameshift_variant,p.Leu454HisfsTer8,ENST00000527547,;CDC27,frameshift_variant,p.Leu393HisfsTer9,ENST00000446365,;CDC27,downstream_gene_variant,,ENST00000575830,;CDC27,frameshift_variant,p.Leu46HisfsTer8,ENST00000573502,;CDC27,3_prime_UTR_variant,,ENST00000533415,;CDC27,intron_variant,,ENST00000525495,;CDC27,intron_variant,,ENST00000526866,;CDC27,downstream_gene_variant,,ENST00000574304,;	uc002ild.3	c.1361delT	1455/5801	5	5			c.1361delT						17	DEL	c.(1360-1362)CTAfs	1	1			lung(2)|breast(2)|ovary(1)	5	Broad	cell division cycle protein 27 isoform 2			45219612		0.308	ENSG00000004897	3009	g.chr17:45219612delA	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding																				0.07	1	1	0	1	0	0	0	0	0	--	--		0	-			CDC27_uc002ile.3_Frame_Shift_Del_p.L460fs|CDC27_uc002ilf.3_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.1_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron	255	GBM-41-3393-TP	p.L454fs	A	TGCTTTTTGTAGATTAAAGGC	NM_001256	NP_001247	45219612	P30260	CDC27_HUMAN	0			11	1488	-	-	-			Frame_Shift_Del	454						
CDC27	0	broad.mit.edu	GRCh37	17	45247352	45247352	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-41-3393-01	TCGA-41-3393-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000066544.3:c.308A>G	p.His103Arg	p.H103R	ENST00000066544	NM_001256.3	103	cAt/cGt	0			1			C	H/R	uc002ild.3	protein_coding		CCDS11509.1			308/2475									lung(2)|breast(2)|ovary(1)	5	c.(307-309)CAT>CGT			hmmpanther:PTHR12558:SF11,hmmpanther:PTHR12558,Superfamily_domains:SSF48452	cell division cycle protein 27 isoform 2				ENSP00000066544		19-Apr									COSM3402957,COSM3402956	19-Apr	.		ENST00000066544	Transcript			anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	ENSG00000004897	g.chr17:45247352T>C	1728			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CDC27_HUMAN&rb=66&re=144&var=H103R	NA	getma.org/?cm=var&var=hg19,17,45247352,T,C&fts=all	H103R	--	--	1																																		CDC27_uc002ile.3_Missense_Mutation_p.H103R|CDC27_uc002ilf.3_Missense_Mutation_p.H103R|CDC27_uc010wkp.1_Missense_Mutation_p.H42R|CDC27_uc010wkq.1_RNA	1,1			benign(0.003)	p.H103R	NM_001256	NP_001247		tolerated(0.34)	1,1	CDC27_HUMAN	CDC27	HGNC	P30260	CDC27_HUMAN			I0EZ72_HUMAN,I0EZ68_HUMAN		4	435	-			UPI000012722D	103			TPR 1.		SNV	CDC27,missense_variant,p.His103Arg,ENST00000066544,NM_001256.3,NM_001114091.1;CDC27,missense_variant,p.His103Arg,ENST00000531206,;CDC27,missense_variant,p.His103Arg,ENST00000527547,;CDC27,missense_variant,p.His42Arg,ENST00000446365,;CDC27,missense_variant,p.His103Arg,ENST00000575483,;RP5-867C24.5,non_coding_transcript_exon_variant,,ENST00000572193,;CDC27,non_coding_transcript_exon_variant,,ENST00000528748,;CDC27,non_coding_transcript_exon_variant,,ENST00000532575,;CDC27,missense_variant,p.Met54Val,ENST00000533415,;CDC27,missense_variant,p.His103Arg,ENST00000526866,;CDC27,missense_variant,p.His63Arg,ENST00000570818,;CDC27,missense_variant,p.Met35Val,ENST00000573550,;CDC27,non_coding_transcript_exon_variant,,ENST00000525495,;CDC27,intron_variant,,ENST00000532893,;CDC27,upstream_gene_variant,,ENST00000574304,;	uc002ild.3	c.308A>G	402/5801	4	4			c.308A>G						17	SNP	c.(307-309)CAT>CGT	41	41			lung(2)|breast(2)|ovary(1)	5	Broad	cell division cycle protein 27 isoform 2			45247352		0.308	ENSG00000004897	3009	g.chr17:45247352T>C	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding							-51.008453	KEEP	5	4	-1	150	158	5	4	-1	14.1291	150	158	0.026616	1	0	0	0	0	1	0	0	0	--	--		0	C			CDC27_uc002ile.3_Missense_Mutation_p.H103R|CDC27_uc002ilf.3_Missense_Mutation_p.H103R|CDC27_uc010wkp.1_Missense_Mutation_p.H42R|CDC27_uc010wkq.1_RNA	255	GBM-41-3393-TP	p.H103R	T	AATATCATCATGGCTTTTCTG	NM_001256	NP_001247	45247352	P30260	CDC27_HUMAN	0			4	435	-	C	C			Missense_Mutation	103			TPR 1.			
CDC27	0	broad.mit.edu	GRCh37	17	45219355	45219355	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-76-4935-01	TCGA-76-4935-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000066544.3:c.1415delG	p.Gly472ValfsTer3	p.G472Vfs*3	ENST00000066544	NM_001256.3	472	gGt/gt	0			1			-	G/X	uc002ild.3	protein_coding		CCDS11509.1			1415/2475									lung(2)|breast(2)|ovary(1)	5	c.(1414-1416)GGTfs			hmmpanther:PTHR12558:SF11,hmmpanther:PTHR12558,Superfamily_domains:SSF48452	cell division cycle protein 27 isoform 2				ENSP00000066544		19-Dec										19-Dec	.		ENST00000066544	Transcript			anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	ENSG00000004897	g.chr17:45219355delC	1728			HIGH								--	--	1																																		CDC27_uc002ile.3_Frame_Shift_Del_p.G478fs|CDC27_uc002ilf.3_Frame_Shift_Del_p.G471fs|CDC27_uc010wkp.1_Frame_Shift_Del_p.G411fs|CDC27_uc010wkq.1_Intron					p.G472fs	NM_001256	NP_001247				CDC27_HUMAN	CDC27	HGNC	P30260	CDC27_HUMAN			I0EZ72_HUMAN,I0EZ68_HUMAN		12	1542	-			UPI000012722D	472					deletion	CDC27,frameshift_variant,p.Gly472ValfsTer3,ENST00000066544,NM_001256.3,NM_001114091.1;CDC27,frameshift_variant,p.Gly478ValfsTer3,ENST00000531206,;CDC27,frameshift_variant,p.Gly471ValfsTer3,ENST00000527547,;CDC27,frameshift_variant,p.Gly411ValfsTer3,ENST00000446365,;CDC27,upstream_gene_variant,,ENST00000571643,;CDC27,downstream_gene_variant,,ENST00000575830,;CDC27,frameshift_variant,p.Gly63ValfsTer3,ENST00000573502,;CDC27,3_prime_UTR_variant,,ENST00000533415,;CDC27,non_coding_transcript_exon_variant,,ENST00000525495,;CDC27,intron_variant,,ENST00000526866,;CDC27,downstream_gene_variant,,ENST00000574304,;	uc002ild.3	c.1415delG	1509/5801	5	5			c.1415delG						17	DEL	c.(1414-1416)GGTfs	33	33			lung(2)|breast(2)|ovary(1)	5	Broad	cell division cycle protein 27 isoform 2			45219355		0.368	ENSG00000004897	3009	g.chr17:45219355delC	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding																				0.02	1	1	0	1	0	0	0	0	0	--	--		0	-			CDC27_uc002ile.3_Frame_Shift_Del_p.G478fs|CDC27_uc002ilf.3_Frame_Shift_Del_p.G471fs|CDC27_uc010wkp.1_Frame_Shift_Del_p.G411fs|CDC27_uc010wkq.1_Intron	273	GBM-76-4935-TP	p.G472fs	C	AGCTAAATAACCTTTCCCCAT	NM_001256	NP_001247	45219355	P30260	CDC27_HUMAN	0			12	1542	-	-	-			Frame_Shift_Del	472						
CDC27	996		GRCh37	17	45219612	45219612	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000531206.1:c.1379del	p.Leu460HisfsTer9	p.L460Hfs*9	ENST00000531206		460	cTa/ca	0																																																																																																																																																																																																																																												
CDC37	11140	broad.mit.edu	GRCh37	19	10506731	10506731	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-5856-01	TCGA-06-5856-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222005.2:c.251T>A	p.Leu84Gln	p.L84Q	ENST00000222005	NM_007065.3	84	cTg/cAg	0			1			T	L/Q	uc002mof.1	protein_coding	YES	CCDS12237.1			251/1137										0	c.(250-252)CTG>CAG			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF03234,hmmpanther:PTHR12800,hmmpanther:PTHR12800:SF3,SMART_domains:SM01071	cell division cycle 37 protein				ENSP00000222005		8-Feb									COSM3403721	8-Feb	.		ENST00000222005	Transcript			protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	ENSG00000105401	g.chr19:10506731A>T	1735			MODERATE		2.395	medium	getma.org/?cm=msa&ty=f&p=CDC37_HUMAN&rb=72&re=127&var=L84Q	NA	getma.org/?cm=var&var=hg19,19,10506731,A,T&fts=all	L84Q	--	--	1																																		CDC37_uc002moe.1_5'Flank|CDC37_uc010dxf.1_5'UTR|CDC37_uc002mog.1_Missense_Mutation_p.L84Q|CDC37_uc002moh.2_Missense_Mutation_p.L84Q	1	1		possibly_damaging(0.765)	p.L84Q	NM_007065	NP_008996		deleterious(0.02)	1	CDC37_HUMAN	CDC37	HGNC	Q16543	CDC37_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)			2	367	-			UPI000012723D	84					SNV	CDC37,missense_variant,p.Leu84Gln,ENST00000222005,NM_007065.3;CDC37,missense_variant,p.Leu84Gln,ENST00000593124,;CDC37,missense_variant,p.Leu84Gln,ENST00000589629,;CDC37,upstream_gene_variant,,ENST00000589625,;CDC37,upstream_gene_variant,,ENST00000589331,;CDC37,3_prime_UTR_variant,,ENST00000588869,;CDC37,non_coding_transcript_exon_variant,,ENST00000591248,;CDC37,upstream_gene_variant,,ENST00000589755,;CDC37,upstream_gene_variant,,ENST00000588498,;CDC37,upstream_gene_variant,,ENST00000590632,;	uc002mof.1	c.251T>A	305/1608	1	1			c.251T>A						19	SNP	c.(250-252)CTG>CAG	1	1				0	Broad	cell division cycle 37 protein			10506731		0.662	ENSG00000105401	3011	g.chr19:10506731A>T	protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding							189.136183	KEEP	30	39	-1	45	49	30	39	-1	189.730322	45	49	0.432432	1	0	0	0	0	1	0	0	0	--	--		0	T			CDC37_uc002moe.1_5'Flank|CDC37_uc010dxf.1_5'UTR|CDC37_uc002mog.1_Missense_Mutation_p.L84Q|CDC37_uc002moh.2_Missense_Mutation_p.L84Q	101	GBM-06-5856-TP	p.L84Q	A	CTCGGCCTGCAGGCGCTCCAG	NM_007065	NP_008996	10506731	Q16543	CDC37_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)	2	367	-	T	T			Missense_Mutation	84						
CDC37	0	broad.mit.edu	GRCh37	19	10505756	10505756	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4208-01	TCGA-32-4208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222005.2:c.667G>A	p.Ala223Thr	p.A223T	ENST00000222005	NM_007065.3	223	Gcc/Acc	0			1			T	A/T	uc002mof.1	protein_coding	YES	CCDS12237.1			667/1137										0	c.(667-669)GCC>ACC			Superfamily_domains:0044500,Pfam_domain:PF08565,hmmpanther:PTHR12800,hmmpanther:PTHR12800:SF3,SMART_domains:SM01070	cell division cycle 37 protein				ENSP00000222005		8-May									COSM3403720	8-May	.		ENST00000222005	Transcript			protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	ENSG00000105401	g.chr19:10505756C>T	1735			MODERATE		2.38	medium	getma.org/?cm=msa&ty=f&p=CDC37_HUMAN&rb=93&re=282&var=A223T	getma.org/pdb.php?prot=CDC37_HUMAN&from=93&to=282&var=A223T	getma.org/?cm=var&var=hg19,19,10505756,C,T&fts=all	A223T	--	--	1																																		CDC37_uc002moe.1_Missense_Mutation_p.A178T|CDC37_uc010dxf.1_Missense_Mutation_p.A60T|CDC37_uc002mog.1_Intron|CDC37_uc002moh.2_Missense_Mutation_p.A223T	1	1		possibly_damaging(0.714)	p.A223T	NM_007065	NP_008996		deleterious(0.03)	1	CDC37_HUMAN	CDC37	HGNC	Q16543	CDC37_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)			5	783	-			UPI000012723D	223					SNV	CDC37,missense_variant,p.Ala223Thr,ENST00000222005,NM_007065.3;CDC37,missense_variant,p.Ala274Thr,ENST00000593124,;CDC37,missense_variant,p.Ala36Thr,ENST00000589625,;CDC37,intron_variant,,ENST00000589629,;CDC37,upstream_gene_variant,,ENST00000589331,;CDC37,3_prime_UTR_variant,,ENST00000588869,;CDC37,non_coding_transcript_exon_variant,,ENST00000591248,;CDC37,non_coding_transcript_exon_variant,,ENST00000589755,;CDC37,non_coding_transcript_exon_variant,,ENST00000588498,;CDC37,upstream_gene_variant,,ENST00000590632,;	uc002mof.1	c.667G>A	721/1608	2	2			c.667G>A						19	SNP	c.(667-669)GCC>ACC	45	45				0	Broad	cell division cycle 37 protein			10505756		0.592	ENSG00000105401	3011	g.chr19:10505756C>T	protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding							-37.856951	KEEP	0	4	-1	95	101	0	4	-1	6.829838	95	101	0.022727	1	0	0	0	0	1	0	0	0	--	--		0	T			CDC37_uc002moe.1_Missense_Mutation_p.A178T|CDC37_uc010dxf.1_Missense_Mutation_p.A60T|CDC37_uc002mog.1_Intron|CDC37_uc002moh.2_Missense_Mutation_p.A223T	243	GBM-32-4208-TP	p.A223T	C	AGGCTCTTGGCCAGCTCCAGG	NM_007065	NP_008996	10505756	Q16543	CDC37_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)	5	783	-	T	T			Missense_Mutation	223						
CDC37L1	55664	broad.mit.edu	GRCh37	9	4679887	4679887	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-06-5856-01	TCGA-06-5856-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381854.3:c.120C>G	p.Gly40=	p.G40=	ENST00000381854	NM_017913.2	40	ggC/ggG	0			1			G	G	uc003zio.2	protein_coding	YES	CCDS6454.1			120/1014										0	c.(118-120)GGC>GGG			hmmpanther:PTHR12800:SF2,hmmpanther:PTHR12800	cell division cycle 37 homolog (S.				ENSP00000371278		7-Jan									COSM3413677	7-Jan	.		ENST00000381854	Transcript				cytoplasm		ENSG00000106993	g.chr9:4679887C>G	17179			LOW								--	--	1																																OREG0019085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1	1			p.G40G	NM_017913	NP_060383			1	CD37L_HUMAN	CDC37L1	HGNC	Q7L3B6	CD37L_HUMAN		GBM - Glioblastoma multiforme(50;0.0318)			1	330	+	all_hematologic(13;0.137)	Breast(48;0.238)	UPI000006E86C	40			Self-association.		SNV	CDC37L1,synonymous_variant,p.=,ENST00000381854,NM_017913.2;CDC37L1,synonymous_variant,p.=,ENST00000381858,;RP11-6J24.6,upstream_gene_variant,,ENST00000607997,;RP11-6J24.6,upstream_gene_variant,,ENST00000609131,;CDC37L1,non_coding_transcript_exon_variant,,ENST00000479095,;	uc003zio.2	c.120C>G	322/3502	4	4			c.120C>G						9	SNP	c.(118-120)GGC>GGG	20	20				0	Broad	cell division cycle 37 homolog (S.			4679887		0.682	ENSG00000106993	3012	g.chr9:4679887C>G		cytoplasm								69.826848	KEEP	15	13	-1	52	47	15	13	-1	76.769558	52	47	0.233645	1	0	0	0	0	0	0	1	0	--	--		0	G	OREG0019085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		101	GBM-06-5856-TP	p.G40G	C	AGCTGCCAGGCGGCGGCGCCC	NM_017913	NP_060383	4679887	Q7L3B6	CD37L_HUMAN	0		GBM - Glioblastoma multiforme(50;0.0318)	1	330	+	G	G	all_hematologic(13;0.137)	Breast(48;0.238)	Silent	40			Self-association.			
CDC42BPB	9578	broad.mit.edu	GRCh37	14	103440447	103440447	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs149124468		TCGA-06-0744-01	TCGA-06-0744-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361246.2:c.1547C>T	p.Ala516Val	p.A516V	ENST00000361246	NM_006035.3	516	gCg/gTg	0	A:0		1			A	A/V	uc001ymi.1	protein_coding	YES	CCDS9978.1			1547/5136									large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11	c.(1546-1548)GCG>GTG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF30	CDC42-binding protein kinase beta			A:0.0001	ENSP00000355237		Dec-37	5.77E-05	9.62E-05				9.00E-05			rs149124468,COSM2151603	Dec-37	.		ENST00000361246	Transcript			actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	ENSG00000198752	g.chr14:103440447G>A	1738			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=MRCKB_HUMAN&rb=408&re=521&var=A516V	NA	getma.org/?cm=var&var=hg19,14,103440447,G,A&fts=all	A516V	--	--	1																																			0,1	1		benign(0.001)	p.A516V	NM_006035	NP_006026		tolerated(0.25)	0,1	MRCKB_HUMAN	CDC42BPB	HGNC	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)			12	1779	-		Melanoma(154;0.155)	UPI000013D27E	516			Potential.		SNV	CDC42BPB,missense_variant,p.Ala516Val,ENST00000361246,NM_006035.3;	uc001ymi.1	c.1547C>T	1836/6758	2	2			c.1547C>T						14	SNP	c.(1546-1548)GCG>GTG	22	22			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11	Broad	CDC42-binding protein kinase beta			103440447		0.537	ENSG00000198752	3016	g.chr14:103440447G>A	actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			1085			1085	41.144015	KEEP	6	12	-1	5	15	6	12	-1	41.207415	5	15	0.451613	1	0	0	0	0	1	0	0	0	--	--		0	A				66	GBM-06-0744-TP	p.A516V	G	TTGGCGAAGCGCCACTGTGTC	NM_006035	NP_006026	103440447	Q9Y5S2	MRCKB_HUMAN	0		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	12	1779	-	A	A		Melanoma(154;0.155)	Missense_Mutation	516			Potential.			
CDC42BPB	0	broad.mit.edu	GRCh37	14	103523372	103523372	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01	TCGA-26-1439-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361246.2:c.139C>T	p.Arg47Cys	p.R47C	ENST00000361246	NM_006035.3	47	Cgc/Tgc	0			1			A	R/C	uc001ymi.1	protein_coding	YES	CCDS9978.1			139/5136									large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11	c.(139-141)CGC>TGC			hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF30	CDC42-binding protein kinase beta				ENSP00000355237		Jan-37									COSM3401124	Jan-37	.		ENST00000361246	Transcript			actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	ENSG00000198752	g.chr14:103523372G>A	1738			MODERATE		3.03	medium	getma.org/?cm=msa&ty=f&p=MRCKB_HUMAN&rb=1&re=75&var=R47C	getma.org/pdb.php?prot=MRCKB_HUMAN&from=1&to=75&var=R47C	getma.org/?cm=var&var=hg19,14,103523372,G,A&fts=all	R47C	--	--	1																																			1	1		possibly_damaging(0.561)	p.R47C	NM_006035	NP_006026		deleterious(0)	1	MRCKB_HUMAN	CDC42BPB	HGNC	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)			1	371	-		Melanoma(154;0.155)	UPI000013D27E	47					SNV	CDC42BPB,missense_variant,p.Arg47Cys,ENST00000361246,NM_006035.3;	uc001ymi.1	c.139C>T	428/6758	1	1			c.139C>T						14	SNP	c.(139-141)CGC>TGC	62	62			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11	Broad	CDC42-binding protein kinase beta			103523372		0.721	ENSG00000198752	3016	g.chr14:103523372G>A	actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			1085			1085	6.448151	KEEP	3	0	-1	4	3	3	0	-1	6.595679	4	3	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	A				179	GBM-26-1439-TP	p.R47C	G	TTGTCGCGGCGCAGGGCCGAG	NM_006035	NP_006026	103523372	Q9Y5S2	MRCKB_HUMAN	0		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	1	371	-	A	A		Melanoma(154;0.155)	Missense_Mutation	47						
CDC42BPB	0	broad.mit.edu	GRCh37	14	103447154	103447154	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-4213-01	TCGA-32-4213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361246.2:c.1096G>T	p.Asp366Tyr	p.D366Y	ENST00000361246	NM_006035.3	366	Gac/Tac	0			1			A	D/Y	uc001ymi.1	protein_coding	YES	CCDS9978.1			1096/5136									large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11	c.(1096-1098)GAC>TAC			Gene3D:1.10.510.10,PROSITE_profiles:PS51285,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF30,SMART_domains:SM00133,Superfamily_domains:SSF56112	CDC42-binding protein kinase beta				ENSP00000355237		Aug-37									COSM3401123	Aug-37	.		ENST00000361246	Transcript			actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	ENSG00000198752	g.chr14:103447154C>A	1738			MODERATE		3.59	high	getma.org/?cm=msa&ty=f&p=MRCKB_HUMAN&rb=360&re=407&var=D366Y	getma.org/pdb.php?prot=MRCKB_HUMAN&from=360&to=407&var=D366Y	getma.org/?cm=var&var=hg19,14,103447154,C,A&fts=all	D366Y	--	--	1																																			1	1		probably_damaging(1)	p.D366Y	NM_006035	NP_006026		deleterious(0)	1	MRCKB_HUMAN	CDC42BPB	HGNC	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)			8	1328	-		Melanoma(154;0.155)	UPI000013D27E	366			AGC-kinase C-terminal.		SNV	CDC42BPB,missense_variant,p.Asp366Tyr,ENST00000361246,NM_006035.3;	uc001ymi.1	c.1096G>T	1385/6758	1	1			c.1096G>T						14	SNP	c.(1096-1098)GAC>TAC	64	64			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11	Broad	CDC42-binding protein kinase beta			103447154		0.463	ENSG00000198752	3016	g.chr14:103447154C>A	actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			1085			1085	94.466101	KEEP	15	23	0.605263158	40	39	15	23	0.605263158	97.121945	40	39	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	A				247	GBM-32-4213-TP	p.D366Y	C	TTGGATGTGTCAGAGGGACTG	NM_006035	NP_006026	103447154	Q9Y5S2	MRCKB_HUMAN	0		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	8	1328	-	A	A		Melanoma(154;0.155)	Missense_Mutation	366			AGC-kinase C-terminal.			
CDC42EP3	0	broad.mit.edu	GRCh37	2	37873026	37873026	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-12-3653-01	TCGA-12-3653-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295324.3:c.705G>T	p.Gln235His	p.Q235H	ENST00000295324	NM_006449.4	235	caG/caT	0			1			A	Q/H	uc002rqi.1	protein_coding	YES	CCDS1791.1			705/765										0	c.(703-705)CAG>CAT			Low_complexity_(Seg):seg,hmmpanther:PTHR15344,hmmpanther:PTHR15344:SF3,Pfam_domain:PF14957	Cdc42 effector protein 3				ENSP00000295324		2-Feb									COSM3407854	2-Feb	.		ENST00000295324	Transcript			regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding	ENSG00000163171	g.chr2:37873026C>A	16943			MODERATE		0.405	neutral	getma.org/?cm=msa&ty=f&p=BORG2_HUMAN&rb=206&re=252&var=Q235H	NA	getma.org/?cm=var&var=hg19,2,37873026,C,A&fts=all	Q235H	--	--	1																																			1	1		probably_damaging(0.995)	p.Q235H	NM_006449	NP_006440		tolerated(0.62)	1	BORG2_HUMAN	CDC42EP3	HGNC	Q9UKI2	BORG2_HUMAN			C9JEZ4_HUMAN,C9J7F7_HUMAN		2	1698	-		all_hematologic(82;0.172)	UPI0000073D2A	235					SNV	CDC42EP3,missense_variant,p.Gln235His,ENST00000295324,NM_006449.4,NM_001270438.1,NM_001270437.1,NM_001270436.1;CDC42EP3,downstream_gene_variant,,ENST00000457889,;CDC42EP3,downstream_gene_variant,,ENST00000453555,;CDC42EP3,downstream_gene_variant,,ENST00000422687,;AC006369.2,intron_variant,,ENST00000419425,;	uc002rqi.1	c.705G>T	1706/5700	1	1			c.705G>T						2	SNP	c.(703-705)CAG>CAT	52	52				0	Broad	Cdc42 effector protein 3			37873026		0.463	ENSG00000163171	3020	g.chr2:37873026C>A	regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding							-47.597293	KEEP	3	1	0.25	103	105	3	1	0.25	6.731586	103	105	0.019139	1	0	0	0	0	1	0	0	0	--	--		0	A				128	GBM-12-3653-TP	p.Q235H	C	CAAGATCAAGCTGCAGGGAGA	NM_006449	NP_006440	37873026	Q9UKI2	BORG2_HUMAN	0			2	1698	-	A	A		all_hematologic(82;0.172)	Missense_Mutation	235						
CDC42EP4	23580	broad.mit.edu	GRCh37	17	71282053	71282053	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0219-01	TCGA-06-0219-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335793.3:c.587C>T	p.Ala196Val	p.A196V	ENST00000335793		196	gCc/gTc	0			1			A	A/V	uc002jjn.2	protein_coding	YES	CCDS11695.1			587/1071										0	c.(586-588)GCC>GTC			Pfam_domain:PF14957,hmmpanther:PTHR15344,hmmpanther:PTHR15344:SF14	Cdc42 effector protein 4				ENSP00000338258		2-Feb									COSM3403178	2-Feb	.		ENST00000335793	Transcript			positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding	ENSG00000179604	g.chr17:71282053G>A	17147			MODERATE		0.41	neutral	getma.org/?cm=msa&ty=f&p=BORG4_HUMAN&rb=86&re=230&var=A196V	NA	getma.org/?cm=var&var=hg19,17,71282053,G,A&fts=all	A196V	--	--	1																																		CDC42EP4_uc002jjo.2_Missense_Mutation_p.A196V|CDC42EP4_uc002jjp.1_Missense_Mutation_p.A126V	1	1		benign(0.017)	p.A196V	NM_012121	NP_036253		tolerated(0.17)	1	BORG4_HUMAN	CDC42EP4	HGNC	Q9H3Q1	BORG4_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)		J3QQS6_HUMAN,J3KRZ9_HUMAN,B2R6D8_HUMAN		2	734	-			UPI000003B4C8	196					SNV	CDC42EP4,missense_variant,p.Ala196Val,ENST00000335793,;CDC42EP4,missense_variant,p.Ala126Val,ENST00000439510,NM_012121.4;CDC42EP4,intron_variant,,ENST00000581014,;CDC42EP4,downstream_gene_variant,,ENST00000580315,;CDC42EP4,downstream_gene_variant,,ENST00000579611,;CDC42EP4,downstream_gene_variant,,ENST00000581045,;	uc002jjn.2	c.587C>T	982/3272	2	2			c.587C>T						17	SNP	c.(586-588)GCC>GTC	17	17				0	Broad	Cdc42 effector protein 4			71282053		0.632	ENSG00000179604	3021	g.chr17:71282053G>A	positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding							-1.080622	KEEP	6	7	-1	85	87	6	7	-1	26.391178	85	87	0.083333	1	0	0	0	0	1	0	0	0	--	--		0	A			CDC42EP4_uc002jjo.2_Missense_Mutation_p.A196V|CDC42EP4_uc002jjp.1_Missense_Mutation_p.A126V	52	GBM-06-0219-TP	p.A196V	G	CCCGTACGTGGCCTTGGGCAC	NM_012121	NP_036253	71282053	Q9H3Q1	BORG4_HUMAN	0	LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)		2	734	-	A	A			Missense_Mutation	196						
CDC73	0	broad.mit.edu	GRCh37	1	193099308	193099309	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	AAATATT			TCGA-28-5219-01	TCGA-28-5219-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367435.3:c.243_249dupAAATATT	p.Pro84LysfsTer6	p.P84Kfs*6	ENST00000367435	NM_024529.4	81	gaa/gaAAATATTa	0			1			AAATATT	E/ENIX	uc001gtb.2	protein_coding	YES	CCDS1382.1			242-243/1596									parathyroid(46)|ovary(1)|breast(1)|pancreas(1)	49	c.(241-243)GAAfs			hmmpanther:PTHR12466,hmmpanther:PTHR12466:SF8	parafibromin				ENSP00000356405		17-Mar										17-Mar	.	Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome	ENST00000367435	Transcript	1		cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	ENSG00000134371	g.chr1:193099308_193099309insAAATATT	16783	7		HIGH								--	--	1																																				1			p.E81fs	NM_024529	NP_078805				CDC73_HUMAN	CDC73	HGNC	Q6P1J9	CDC73_HUMAN					3	485_486	+			UPI0000021592	81					insertion	CDC73,frameshift_variant,p.Pro84LysfsTer6,ENST00000367435,NM_024529.4;CDC73,non_coding_transcript_exon_variant,,ENST00000482484,;	uc001gtb.2	c.242_243insAAATATT	426-427/4969	5	5			c.242_243insAAATATT						1	INS	c.(241-243)GAAfs	36	36			parathyroid(46)|ovary(1)|breast(1)|pancreas(1)	49	Broad	parafibromin			193099309	Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome	0.287	ENSG00000134371	3028	g.chr1:193099308_193099309insAAATATT	cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding		p.E81D(NCIH727-Tumor)	312		p.E81D(NCIH727-Tumor)	312														0.16	1	0	0	1	1	0	0	0	0	--	--		0	AAATATT				225	GBM-28-5219-TP	p.E81fs	-	TTTTAGACTGAAAATATTCCTG	NM_024529	NP_078805	193099308	Q6P1J9	CDC73_HUMAN	0			3	485_486	+	AAATATT	AAATATT			Frame_Shift_Ins	81						
CDCA2	0	broad.mit.edu	GRCh37	8	25341581	25341581	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-5950-01	TCGA-19-5950-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330560.3:c.1220C>A	p.Ser407Tyr	p.S407Y	ENST00000330560	NM_152562.2	407	tCt/tAt	0			1			A	S/Y	uc003xep.1	protein_coding	YES	CCDS6049.1			1220/3072										0	c.(1219-1221)TCT>TAT			Pfam_domain:PF15276,hmmpanther:PTHR21603:SF2,hmmpanther:PTHR21603	cell division cycle associated 2				ENSP00000328228		15-Oct									COSM2156575	15-Oct	.		ENST00000330560	Transcript			cell division|mitosis	cytoplasm|nucleus		ENSG00000184661	g.chr8:25341581C>A	14623			MODERATE		2.14	medium	getma.org/?cm=msa&ty=f&p=CDCA2_HUMAN&rb=386&re=516&var=S407Y	NA	getma.org/?cm=var&var=hg19,8,25341581,C,A&fts=all	S407Y	--	--	1																																		PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_Missense_Mutation_p.S407Y|CDCA2_uc003xeq.1_Missense_Mutation_p.S392Y|CDCA2_uc003xer.1_Missense_Mutation_p.S70Y	1	1		probably_damaging(1)	p.S407Y	NM_152562	NP_689775		deleterious(0)	1	CDCA2_HUMAN	CDCA2	HGNC	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)			10	1699	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	UPI000013DF9A	407					SNV	CDCA2,missense_variant,p.Ser407Tyr,ENST00000330560,NM_152562.2;CDCA2,missense_variant,p.Ser392Tyr,ENST00000380665,;CDCA2,non_coding_transcript_exon_variant,,ENST00000521098,;CDCA2,non_coding_transcript_exon_variant,,ENST00000523454,;	uc003xep.1	c.1220C>A	1697/3731	2	2			c.1220C>A						8	SNP	c.(1219-1221)TCT>TAT	44	44				0	Broad	cell division cycle associated 2			25341581		0.428	ENSG00000184661	3029	g.chr8:25341581C>A	cell division|mitosis	cytoplasm|nucleus								66.255499	KEEP	12	15	0.555555556	27	28	12	15	0.555555556	68.483793	27	28	0.320513	1	0	0	0	0	1	0	0	0	--	--		0	A			PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_Missense_Mutation_p.S407Y|CDCA2_uc003xeq.1_Missense_Mutation_p.S392Y|CDCA2_uc003xer.1_Missense_Mutation_p.S70Y	170	GBM-19-5950-TP	p.S407Y	C	TTTGATGAATCTTTGCCAGCA	NM_152562	NP_689775	25341581	Q69YH5	CDCA2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	10	1699	+	A	A		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	Missense_Mutation	407						
CDCA2	0	broad.mit.edu	GRCh37	8	25319665	25319665	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs142497699	byFrequency	TCGA-32-1986-01	TCGA-32-1986-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330560.3:c.328C>T	p.Arg110Trp	p.R110W	ENST00000330560	NM_152562.2	110	Cgg/Tgg	0	T:0.0023		1			T	R/W	uc003xep.1	protein_coding	YES	CCDS6049.1			328/3072										0	c.(328-330)CGG>TGG			hmmpanther:PTHR21603:SF2,hmmpanther:PTHR21603	cell division cycle associated 2			T:0	ENSP00000328228		15-Apr	0.000239	0.0026	8.64E-05					6.06E-05	rs142497699,COSM1098466	15-Apr	common_variant		ENST00000330560	Transcript			cell division|mitosis	cytoplasm|nucleus		ENSG00000184661	g.chr8:25319665C>T	14623			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=CDCA2_HUMAN&rb=1&re=385&var=R110W	NA	getma.org/?cm=var&var=hg19,8,25319665,C,T&fts=all	R110W	--	--	1																																		PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_Missense_Mutation_p.R110W|CDCA2_uc003xeq.1_Missense_Mutation_p.R95W	0,1	1		possibly_damaging(0.711)	p.R110W	NM_152562	NP_689775		deleterious(0)	0,1	CDCA2_HUMAN	CDCA2	HGNC	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)			4	807	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	UPI000013DF9A	110					SNV	CDCA2,missense_variant,p.Arg110Trp,ENST00000330560,NM_152562.2;CDCA2,missense_variant,p.Arg95Trp,ENST00000380665,;KCTD9,upstream_gene_variant,,ENST00000221200,NM_017634.3;KCTD9,upstream_gene_variant,,ENST00000518067,;KCTD9,upstream_gene_variant,,ENST00000518997,;KCTD9,upstream_gene_variant,,ENST00000517914,;KCTD9,upstream_gene_variant,,ENST00000522493,;CDCA2,downstream_gene_variant,,ENST00000518225,;KCTD9,upstream_gene_variant,,ENST00000524217,;KCTD9,upstream_gene_variant,,ENST00000519665,;KCTD9,upstream_gene_variant,,ENST00000523140,;KCTD9,upstream_gene_variant,,ENST00000521458,;KCTD9,upstream_gene_variant,,ENST00000523294,;	uc003xep.1	c.328C>T	805/3731	1	1			c.328C>T						8	SNP	c.(328-330)CGG>TGG	14	14				0	Broad	cell division cycle associated 2			25319665		0.423	ENSG00000184661	3029	g.chr8:25319665C>T	cell division|mitosis	cytoplasm|nucleus								115.139958	KEEP	18	29	-1	64	77	18	29	-1	124.427909	64	77	0.255814	1	0	0	0	0	1	0	0	0	--	--		0	T			PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_Missense_Mutation_p.R110W|CDCA2_uc003xeq.1_Missense_Mutation_p.R95W	233	GBM-32-1986-TP	p.R110W	C	TTTCATTGCTCGGCAGCAAAA	NM_152562	NP_689775	25319665	Q69YH5	CDCA2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	4	807	+	T	T		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	Missense_Mutation	110						
CDCA4	55038	broad.mit.edu	GRCh37	14	105477589	105477589	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0126-01	TCGA-06-0126-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336219.3:c.678C>T	p.Ser226=	p.S226=	ENST00000336219	NM_017955.3	226	tcC/tcT	0		A:0	1	A:0		A	S	uc001yqa.2	protein_coding	YES	CCDS9996.1			678/726									ovary(1)	1	c.(676-678)TCC>TCT			hmmpanther:PTHR16277,hmmpanther:PTHR16277:SF6	cell division cycle associated 4		A:0		ENSP00000337226	A:0	2-Feb	1.65E-05							0.000125	rs534887423,COSM2149441	2-Feb	.		ENST00000336219	Transcript		A:0.0002		nucleus		ENSG00000170779	g.chr14:105477589G>A	14625			LOW								--	--	1																																		CDCA4_uc001yqb.2_Silent_p.S226S	0,1	1			p.S226S	NM_145701	NP_663747	A:0.001		0,1	CDCA4_HUMAN	CDCA4	HGNC	Q9BXL8	CDCA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)			2	774	-		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	UPI000006F9C8	226					SNV	CDCA4,synonymous_variant,p.=,ENST00000336219,NM_017955.3;CDCA4,synonymous_variant,p.=,ENST00000392590,NM_145701.2;C14orf79,downstream_gene_variant,,ENST00000548178,;	uc001yqa.2	c.678C>T	834/2513	2	2			c.678C>T						14	SNP	c.(676-678)TCC>TCT	29	29			ovary(1)	1	Broad	cell division cycle associated 4			105477589		0.672	ENSG00000170779	3031	g.chr14:105477589G>A		nucleus								40.23879	KEEP	8	6	-1	13	13	8	6	-1	40.921904	13	13	0.358974	1	0	0	0	0	0	0	1	0	--	--		0	A			CDCA4_uc001yqb.2_Silent_p.S226S	13	GBM-06-0126-TP	p.S226S	G	CGCCCAGGTCGGACTTGCAGC	NM_145701	NP_663747	105477589	Q9BXL8	CDCA4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)	2	774	-	A	A		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	Silent	226						
CDCA4	0	broad.mit.edu	GRCh37	14	105477700	105477700	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2623-01	TCGA-19-2623-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336219.3:c.567C>T	p.Tyr189=	p.Y189=	ENST00000336219	NM_017955.3	189	taC/taT	0			1			A	Y	uc001yqa.2	protein_coding	YES	CCDS9996.1			567/726									ovary(1)	1	c.(565-567)TAC>TAT			hmmpanther:PTHR16277,hmmpanther:PTHR16277:SF6	cell division cycle associated 4				ENSP00000337226		2-Feb	8.24E-06			0.000116					rs745813325,COSM3401166	2-Feb	.		ENST00000336219	Transcript				nucleus		ENSG00000170779	g.chr14:105477700G>A	14625			LOW								--	--	1																																		CDCA4_uc001yqb.2_Silent_p.Y189Y	0,1	1			p.Y189Y	NM_145701	NP_663747			0,1	CDCA4_HUMAN	CDCA4	HGNC	Q9BXL8	CDCA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)			2	663	-		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	UPI000006F9C8	189					SNV	CDCA4,synonymous_variant,p.=,ENST00000336219,NM_017955.3;CDCA4,synonymous_variant,p.=,ENST00000392590,NM_145701.2;C14orf79,downstream_gene_variant,,ENST00000548178,;	uc001yqa.2	c.567C>T	723/2513	1	1			c.567C>T						14	SNP	c.(565-567)TAC>TAT	59	59			ovary(1)	1	Broad	cell division cycle associated 4			105477700		0.587	ENSG00000170779	3031	g.chr14:105477700G>A		nucleus								94.886978	KEEP	11	19	-1	8	9	11	19	-1	95.575742	8	9	0.630435	1	0	0	0	0	0	0	1	0	--	--		0	A			CDCA4_uc001yqb.2_Silent_p.Y189Y	163	GBM-19-2623-TP	p.Y189Y	G	TGTCCAGGTCGTAGTAGGGGC	NM_145701	NP_663747	105477700	Q9BXL8	CDCA4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)	2	663	-	A	A		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	Silent	189						
CDCA7	83879	broad.mit.edu	GRCh37	2	174231123	174231123	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306721.3:c.1148G>A	p.Arg383His	p.R383H	ENST00000306721	NM_031942.4	383	cGt/cAt	0			1			A	R/H	uc002uid.1	protein_coding		CCDS2253.1			911/1116									ovary(1)	1	c.(910-912)CGT>CAT			Pfam_domain:PF10497,hmmpanther:PTHR31169,hmmpanther:PTHR31169:SF2	cell division cycle associated 7 isoform 2				ENSP00000272789		9-Jul	8.24E-06					1.50E-05			rs772929976,COSM2152182	9-Jul	.		ENST00000347703	Transcript			regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		ENSG00000144354	g.chr2:174231123G>A	14628			MODERATE		2.49	medium	getma.org/?cm=msa&ty=f&p=CDCA7_HUMAN&rb=261&re=361&var=R304H	NA	getma.org/?cm=var&var=hg19,2,174231123,G,A&fts=all	R304H	--	--	1																																		CDCA7_uc002uic.1_Missense_Mutation_p.R383H|CDCA7_uc010zej.1_Missense_Mutation_p.R339H|CDCA7_uc010zek.1_Missense_Mutation_p.R262H	0,1			possibly_damaging(0.756)	p.R304H	NM_145810	NP_665809		tolerated(0.05)	0,1	CDCA7_HUMAN	CDCA7	HGNC	Q9BWT1	CDCA7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.116)		B4DM13_HUMAN		7	1042	+			UPI000006F0C1	304			Mediates transcriptional activity.		SNV	CDCA7,missense_variant,p.Arg383His,ENST00000306721,NM_031942.4;CDCA7,missense_variant,p.Arg304His,ENST00000347703,NM_145810.2;CDCA7,missense_variant,p.Arg262His,ENST00000410019,;CDCA7,missense_variant,p.Arg339His,ENST00000410101,;CDCA7,intron_variant,,ENST00000392567,;CDCA7,non_coding_transcript_exon_variant,,ENST00000496441,;CDCA7,intron_variant,,ENST00000467411,;CDCA7,downstream_gene_variant,,ENST00000435616,;CDCA7,downstream_gene_variant,,ENST00000468359,;	uc002uid.1	c.911G>A	1055/2500	2	2			c.911G>A						2	SNP	c.(910-912)CGT>CAT	32	32			ovary(1)	1	Broad	cell division cycle associated 7 isoform 2			174231123		0.557	ENSG00000144354	3033	g.chr2:174231123G>A	regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus								172.512048	KEEP	42	44	-1	157	127	42	44	-1	194.017532	157	127	0.227848	1	0	0	0	0	1	0	0	0	--	--		0	A			CDCA7_uc002uic.1_Missense_Mutation_p.R383H|CDCA7_uc010zej.1_Missense_Mutation_p.R339H|CDCA7_uc010zek.1_Missense_Mutation_p.R262H	73	GBM-06-0877-TP	p.R304H	G	CTTCGAAACCGTTATGGTGAA	NM_145810	NP_665809	174231123	Q9BWT1	CDCA7_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.116)		7	1042	+	A	A			Missense_Mutation	304			Mediates transcriptional activity.			
CDCP1	0	broad.mit.edu	GRCh37	3	45132920	45132920	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01	TCGA-27-1831-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296129.1:c.1738G>A	p.Val580Met	p.V580M	ENST00000296129	NM_022842.4	580	Gtg/Atg	0			1			T	V/M	uc003com.2	protein_coding	YES	CCDS2727.1			1738/2511									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(1738-1740)GTG>ATG			hmmpanther:PTHR14477,hmmpanther:PTHR14477:SF0	CUB domain-containing protein 1 isoform 1				ENSP00000296129		9-Jul	1.65E-05					1.71E-05		6.60E-05	rs773715040,COSM3408683	9-Jul	.		ENST00000296129	Transcript				extracellular region|integral to membrane|plasma membrane		ENSG00000163814	g.chr3:45132920C>T	24357			MODERATE		1.78	low	getma.org/?cm=msa&ty=f&p=CDCP1_HUMAN&rb=61&re=834&var=V580M	NA	getma.org/?cm=var&var=hg19,3,45132920,C,T&fts=all	V580M	--	--	1																																			0,1	1		possibly_damaging(0.9)	p.V580M	NM_022842	NP_073753		deleterious(0.05)	0,1	CDCP1_HUMAN	CDCP1	HGNC	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)			7	1873	-			UPI000013E304	580			Extracellular (Potential).		SNV	CDCP1,missense_variant,p.Val580Met,ENST00000296129,NM_022842.4;	uc003com.2	c.1738G>A	1873/6006	1	1			c.1738G>A						3	SNP	c.(1738-1740)GTG>ATG	1	1			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	CUB domain-containing protein 1 isoform 1			45132920		0.607	ENSG00000163814	3036	g.chr3:45132920C>T		extracellular region|integral to membrane|plasma membrane								34.274652	KEEP	4	9	-1	17	13	4	9	-1	35.624081	17	13	0.309524	1	0	0	0	0	1	0	0	0	--	--		0	T				190	GBM-27-1831-TP	p.V580M	C	TCTCTGGGCACGCTGATGTTC	NM_022842	NP_073753	45132920	Q9H5V8	CDCP1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	7	1873	-	T	T			Missense_Mutation	580			Extracellular (Potential).			
CDCP1	0	broad.mit.edu	GRCh37	3	45153846	45153846	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-32-2495-01	TCGA-32-2495-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296129.1:c.384T>C	p.Asp128=	p.D128=	ENST00000296129	NM_022842.4	128	gaT/gaC	0			1			G	D	uc003com.2	protein_coding	YES	CCDS2727.1			384/2511									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(382-384)GAT>GAC			hmmpanther:PTHR14477,hmmpanther:PTHR14477:SF0	CUB domain-containing protein 1 isoform 1				ENSP00000296129		9-Mar									COSM3408684	9-Mar	.		ENST00000296129	Transcript				extracellular region|integral to membrane|plasma membrane		ENSG00000163814	g.chr3:45153846A>G	24357			LOW								--	--	1																																		CDCP1_uc003con.2_Silent_p.D128D	1	1			p.D128D	NM_022842	NP_073753			1	CDCP1_HUMAN	CDCP1	HGNC	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)			3	519	-			UPI000013E304	128			Extracellular (Potential).		SNV	CDCP1,synonymous_variant,p.=,ENST00000296129,NM_022842.4;CDCP1,synonymous_variant,p.=,ENST00000425231,NM_178181.2;CDCP1,non_coding_transcript_exon_variant,,ENST00000490471,;	uc003com.2	c.384T>C	519/6006	4	4			c.384T>C						3	SNP	c.(382-384)GAT>GAC	17	17			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	CUB domain-containing protein 1 isoform 1			45153846		0.527	ENSG00000163814	3036	g.chr3:45153846A>G		extracellular region|integral to membrane|plasma membrane								577.00296	KEEP	97	99	-1	123	145	97	99	-1	579.222053	123	145	0.422897	1	0	0	0	0	0	0	1	0	--	--		0	G			CDCP1_uc003con.2_Silent_p.D128D	237	GBM-32-2495-TP	p.D128D	A	GAGCTTTGACATCCCAGATGA	NM_022842	NP_073753	45153846	Q9H5V8	CDCP1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	3	519	-	G	G			Silent	128			Extracellular (Potential).			
CDCP1	0	broad.mit.edu	GRCh37	3	45127459	45127459	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01	TCGA-76-6193-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296129.1:c.2182G>A	p.Asp728Asn	p.D728N	ENST00000296129	NM_022842.4	728	Gac/Aac	0			1			T	D/N	uc003com.2	protein_coding	YES	CCDS2727.1			2182/2511									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(2182-2184)GAC>AAC			hmmpanther:PTHR14477,hmmpanther:PTHR14477:SF0	CUB domain-containing protein 1 isoform 1				ENSP00000296129		9-Sep									COSM3408682	9-Sep	.		ENST00000296129	Transcript				extracellular region|integral to membrane|plasma membrane		ENSG00000163814	g.chr3:45127459C>T	24357			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=CDCP1_HUMAN&rb=61&re=834&var=D728N	NA	getma.org/?cm=var&var=hg19,3,45127459,C,T&fts=all	D728N	--	--	1																																			1	1		probably_damaging(0.946)	p.D728N	NM_022842	NP_073753		tolerated(0.26)	1	CDCP1_HUMAN	CDCP1	HGNC	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)			9	2317	-			UPI000013E304	728			Cytoplasmic (Potential).		SNV	CDCP1,missense_variant,p.Asp728Asn,ENST00000296129,NM_022842.4;	uc003com.2	c.2182G>A	2317/6006	2	2			c.2182G>A						3	SNP	c.(2182-2184)GAC>AAC	43	43			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	CUB domain-containing protein 1 isoform 1			45127459		0.502	ENSG00000163814	3036	g.chr3:45127459C>T		extracellular region|integral to membrane|plasma membrane								-38.51937	KEEP	8	6	-1	174	137	8	6	-1	24.661574	174	137	0.045614	1	0	0	0	0	1	0	0	0	--	--		0	T				276	GBM-76-6193-TP	p.D728N	C	GAGTCATTGTCCTTTCGCCCT	NM_022842	NP_073753	45127459	Q9H5V8	CDCP1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	9	2317	-	T	T			Missense_Mutation	728			Cytoplasmic (Potential).			
CDCP2	200008		GRCh37	1	54605749	54605749	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000371330.1:c.794G>T	p.Arg265Leu	p.R265L	ENST00000371330	NM_201546.3	265	cGg/cTg	0																																																																																																																																																																																																																																												
CDH1	0	broad.mit.edu	GRCh37	16	68855965	68855965	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-1982-01	TCGA-32-1982-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261769.5:c.1773C>T	p.Asn591=	p.N591=	ENST00000261769	NM_004360.3	591	aaC/aaT	0		T:0.0008	1	T:0		T	N	uc002ewg.1	protein_coding	YES	CCDS10869.1			1773/2649	Mis|N|F|S			gastric	lobular breast|gastric				breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243	c.(1771-1773)AAC>AAT			PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF252,hmmpanther:PTHR24027,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,Prints_domain:PR00205	cadherin 1, type 1 preproprotein		T:0		ENSP00000261769	T:0	16-Dec	2.47E-05	9.61E-05				1.50E-05		6.06E-05	rs373719554,COSM3402438	16-Dec	.	Hereditary_Diffuse_Gastric_Cancer	ENST00000261769	Transcript	1	T:0.0002	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	ENSG00000039068	g.chr16:68855965C>T	1748			LOW								--	--	1																																		CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Silent_p.N530N	0,1	1			p.N591N	NM_004360	NP_004351	T:0		0,1	CADH1_HUMAN	CDH1	HGNC	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	B3GN61_HUMAN		12	1897	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	UPI00000341EF	591			Extracellular (Potential).|Cadherin 4.		SNV	CDH1,synonymous_variant,p.=,ENST00000261769,NM_004360.3;CDH1,synonymous_variant,p.=,ENST00000422392,;RP11-354M1.2,intron_variant,,ENST00000563916,;CDH1,non_coding_transcript_exon_variant,,ENST00000562836,;CDH1,3_prime_UTR_variant,,ENST00000566612,;CDH1,3_prime_UTR_variant,,ENST00000566510,;CDH1,upstream_gene_variant,,ENST00000562118,;FTLP14,upstream_gene_variant,,ENST00000562087,;	uc002ewg.1	c.1773C>T	1964/4889	2	2			c.1773C>T	Mis|N|F|S			gastric	lobular breast|gastric	16	SNP	c.(1771-1773)AAC>AAT	18	18			breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243	Broad	cadherin 1, type 1 preproprotein			68855965	Hereditary_Diffuse_Gastric_Cancer	0.458	ENSG00000039068	3038	g.chr16:68855965C>T	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			231			231	113.605428	KEEP	32	17	-1	65	87	32	17	-1	123.127461	65	87	0.255682	1	0	0	0	0	0	0	1	0	--	--		0	T			CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Silent_p.N530N	232	GBM-32-1982-TP	p.N591N	C	TGAATGACAACGCCCCCATAC	NM_004360	NP_004351	68855965	P12830	CADH1_HUMAN	0		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	12	1897	+	T	T		all_neural(199;0.0189)|Ovarian(137;0.0563)	Silent	591			Extracellular (Potential).|Cadherin 4.			
CDH13	0	broad.mit.edu	GRCh37	16	83704506	83704506	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268613.10:c.1354G>A	p.Gly452Arg	p.G452R	ENST00000268613		452	Gga/Aga	0			1			A	G/R	uc002fgx.2	protein_coding	YES	CCDS58485.1			1354/2283									large_intestine(1)	1	c.(1213-1215)GGA>AGA			PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF80,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	cadherin 13 preproprotein				ENSP00000268613		15-Oct									COSM3402516	15-Oct	.		ENST00000268613	Transcript			adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	ENSG00000140945	g.chr16:83704506G>A	1753			MODERATE		3.685	high	getma.org/?cm=msa&ty=f&p=CAD13_HUMAN&rb=368&re=469&var=G405R	getma.org/pdb.php?prot=CAD13_HUMAN&from=368&to=469&var=G405R	getma.org/?cm=var&var=hg19,16,83704506,G,A&fts=all	G405R	--	--	1																																		CDH13_uc010vns.1_Missense_Mutation_p.G452R|CDH13_uc010vnt.1_Missense_Mutation_p.G151R|CDH13_uc010vnu.1_Missense_Mutation_p.G366R	1	1		probably_damaging(1)	p.G405R	NM_001257	NP_001248		deleterious(0)	1	CAD13_HUMAN	CDH13	HGNC	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)			9	1333	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	UPI00020E71A6	405			Cadherin 3.		SNV	CDH13,missense_variant,p.Gly405Arg,ENST00000566620,NM_001257.4,NM_001220490.1,NM_001220489.1,NM_001220488.1;CDH13,missense_variant,p.Gly452Arg,ENST00000268613,;CDH13,missense_variant,p.Gly366Arg,ENST00000428848,;CDH13,downstream_gene_variant,,ENST00000562307,;CDH13,3_prime_UTR_variant,,ENST00000539548,;	uc002fgx.2	c.1213G>A	1447/2722	2	2			c.1213G>A						16	SNP	c.(1213-1215)GGA>AGA	42	42			large_intestine(1)	1	Broad	cadherin 13 preproprotein			83704506		0.498	ENSG00000140945	3042	g.chr16:83704506G>A	adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding							106.851889	KEEP	17	22	-1	32	39	17	22	-1	108.540565	32	39	0.362745	1	0	0	0	0	1	0	0	0	--	--		0	A			CDH13_uc010vns.1_Missense_Mutation_p.G452R|CDH13_uc010vnt.1_Missense_Mutation_p.G151R|CDH13_uc010vnu.1_Missense_Mutation_p.G366R	177	GBM-19-5959-TP	p.G405R	G	CATCATCAACGGAAACCCCGG	NM_001257	NP_001248	83704506	P55290	CAD13_HUMAN	0		COAD - Colon adenocarcinoma(5;0.0268)	9	1333	+	A	A		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	Missense_Mutation	405			Cadherin 3.			
CDH13	0	broad.mit.edu	GRCh37	16	83704446	83704446	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1986-01	TCGA-32-1986-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268613.10:c.1294G>A	p.Val432Ile	p.V432I	ENST00000268613		432	Gtt/Att	0	A:0		1			A	V/I	uc002fgx.2	protein_coding	YES	CCDS58485.1			1294/2283									large_intestine(1)	1	c.(1153-1155)GTT>ATT			PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF80,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	cadherin 13 preproprotein			A:0.0002	ENSP00000268613		15-Oct	8.27E-06					1.50E-05			rs371866515,COSM3402515	15-Oct	.		ENST00000268613	Transcript			adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	ENSG00000140945	g.chr16:83704446G>A	1753			MODERATE		2.675	medium	getma.org/?cm=msa&ty=f&p=CAD13_HUMAN&rb=368&re=469&var=V385I	getma.org/pdb.php?prot=CAD13_HUMAN&from=368&to=469&var=V385I	getma.org/?cm=var&var=hg19,16,83704446,G,A&fts=all	V385I	--	--	1																																		CDH13_uc010vns.1_Missense_Mutation_p.V432I|CDH13_uc010vnt.1_Missense_Mutation_p.V131I|CDH13_uc010vnu.1_Missense_Mutation_p.V346I	0,1	1		benign(0.138)	p.V385I	NM_001257	NP_001248		deleterious(0.04)	0,1	CAD13_HUMAN	CDH13	HGNC	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)			9	1273	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	UPI00020E71A6	385			Cadherin 3.		SNV	CDH13,missense_variant,p.Val385Ile,ENST00000566620,NM_001257.4,NM_001220490.1,NM_001220489.1,NM_001220488.1;CDH13,missense_variant,p.Val432Ile,ENST00000268613,;CDH13,missense_variant,p.Val346Ile,ENST00000428848,;CDH13,non_coding_transcript_exon_variant,,ENST00000562307,;CDH13,3_prime_UTR_variant,,ENST00000539548,;	uc002fgx.2	c.1153G>A	1387/2722	1	1			c.1153G>A						16	SNP	c.(1153-1155)GTT>ATT	59	59			large_intestine(1)	1	Broad	cadherin 13 preproprotein			83704446		0.478	ENSG00000140945	3042	g.chr16:83704446G>A	adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding							117.850272	KEEP	18	23	-1	53	47	18	23	-1	122.420943	53	47	0.30303	1	0	0	0	0	1	0	0	0	--	--		0	A			CDH13_uc010vns.1_Missense_Mutation_p.V432I|CDH13_uc010vnt.1_Missense_Mutation_p.V131I|CDH13_uc010vnu.1_Missense_Mutation_p.V346I	233	GBM-32-1986-TP	p.V385I	G	CAATTTGACAGTTGAAGATAA	NM_001257	NP_001248	83704446	P55290	CAD13_HUMAN	0		COAD - Colon adenocarcinoma(5;0.0268)	9	1273	+	A	A		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	Missense_Mutation	385			Cadherin 3.			
CDH16	1014	broad.mit.edu	GRCh37	16	66946751	66946751	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-0126-01	TCGA-06-0126-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299752.4:c.1098C>A	p.Pro366=	p.P366=	ENST00000299752	NM_001204744.1	366	ccC/ccA	0	A:0	A:0	1	A:0		T	P	uc002eql.2	protein_coding	YES	CCDS10823.1			1098/2490									ovary(2)|upper_aerodigestive_tract(1)	3	c.(1096-1098)CCC>CCA			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF1,SMART_domains:SM00112,Superfamily_domains:SSF49313	cadherin 16 precursor		A:0	A:0.0001	ENSP00000299752	A:0.001	18-Oct	8.24E-06					1.53E-05			rs201292764,COSM2149424	18-Oct	.		ENST00000299752	Transcript		A:0.0002	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000166589	g.chr16:66946751G>T	1755			LOW								--	--	1																																		CDH16_uc010cdy.2_Silent_p.P366P|CDH16_uc002eqm.2_Silent_p.P269P	0,1	1			p.P366P	NM_004062	NP_004053	A:0		0,1	CAD16_HUMAN	CDH16	HGNC	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	J3QLA1_HUMAN		10	1171	-		Ovarian(137;0.0563)	UPI0000126DB1	366			Extracellular (Potential).|Cadherin 4.		SNV	CDH16,synonymous_variant,p.=,ENST00000299752,NM_001204744.1,NM_004062.3,NM_001204745.1;CDH16,synonymous_variant,p.=,ENST00000394055,;CDH16,synonymous_variant,p.=,ENST00000565796,;CDH16,synonymous_variant,p.=,ENST00000570262,;CDH16,synonymous_variant,p.=,ENST00000568632,NM_001204746.1;CDH16,downstream_gene_variant,,ENST00000567009,;CDH16,downstream_gene_variant,,ENST00000565235,;CDH16,3_prime_UTR_variant,,ENST00000567269,;CDH16,intron_variant,,ENST00000568698,;	uc002eql.2	c.1098C>A	1292/2954	2	2			c.1098C>A						16	SNP	c.(1096-1098)CCC>CCA	48	48			ovary(2)|upper_aerodigestive_tract(1)	3	Broad	cadherin 16 precursor			66946751		0.612	ENSG00000166589	3044	g.chr16:66946751G>T	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							75.082304	KEEP	14	15	0.482758621	36	28	14	15	0.482758621	77.098442	36	28	0.329114	1	0	0	0	0	0	0	1	0	--	--		0	T			CDH16_uc010cdy.2_Silent_p.P366P|CDH16_uc002eqm.2_Silent_p.P269P	13	GBM-06-0126-TP	p.P366P	G	TGGGGGAGCCGGGGGCATCTG	NM_004062	NP_004053	66946751	O75309	CAD16_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	10	1171	-	T	T		Ovarian(137;0.0563)	Silent	366			Extracellular (Potential).|Cadherin 4.			
CDH16	0	broad.mit.edu	GRCh37	16	66946227	66946227	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0871-01	TCGA-14-0871-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299752.4:c.1466C>T	p.Ala489Val	p.A489V	ENST00000299752	NM_001204744.1	489	gCc/gTc	0			1			A	A/V	uc002eql.2	protein_coding	YES	CCDS10823.1			1466/2490									ovary(2)|upper_aerodigestive_tract(1)	3	c.(1465-1467)GCC>GTC			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF1,SMART_domains:SM00112,Superfamily_domains:SSF49313	cadherin 16 precursor				ENSP00000299752		18-Dec									COSM3402406	18-Dec	.		ENST00000299752	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000166589	g.chr16:66946227G>A	1755			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=CAD16_HUMAN&rb=456&re=556&var=A489V	NA	getma.org/?cm=var&var=hg19,16,66946227,G,A&fts=all	A489V	--	--	1																																		CDH16_uc010cdy.2_Missense_Mutation_p.A489V|CDH16_uc002eqm.2_Missense_Mutation_p.A392V	1	1		benign(0.098)	p.A489V	NM_004062	NP_004053		tolerated(0.13)	1	CAD16_HUMAN	CDH16	HGNC	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	J3QLA1_HUMAN		12	1539	-		Ovarian(137;0.0563)	UPI0000126DB1	489			Extracellular (Potential).|Cadherin 5.		SNV	CDH16,missense_variant,p.Ala489Val,ENST00000299752,NM_001204744.1,NM_004062.3,NM_001204745.1;CDH16,missense_variant,p.Ala489Val,ENST00000394055,;CDH16,missense_variant,p.Ala489Val,ENST00000565796,;CDH16,missense_variant,p.Ala409Val,ENST00000570262,;CDH16,missense_variant,p.Ala392Val,ENST00000568632,NM_001204746.1;CDH16,downstream_gene_variant,,ENST00000567009,;CDH16,downstream_gene_variant,,ENST00000565235,;CDH16,3_prime_UTR_variant,,ENST00000567269,;CDH16,intron_variant,,ENST00000568698,;	uc002eql.2	c.1466C>T	1660/2954	2	2			c.1466C>T						16	SNP	c.(1465-1467)GCC>GTC	21	21			ovary(2)|upper_aerodigestive_tract(1)	3	Broad	cadherin 16 precursor			66946227		0.577	ENSG00000166589	3044	g.chr16:66946227G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							-27.188374	KEEP	1	3	-1	81	69	1	3	-1	6.747937	81	69	0.028777	1	0	0	0	0	1	0	0	0	--	--		0	A			CDH16_uc010cdy.2_Missense_Mutation_p.A489V|CDH16_uc002eqm.2_Missense_Mutation_p.A392V	141	GBM-14-0871-TP	p.A489V	G	CCTCTCAATGGCAAAATCCAT	NM_004062	NP_004053	66946227	O75309	CAD16_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	12	1539	-	A	A		Ovarian(137;0.0563)	Missense_Mutation	489			Extracellular (Potential).|Cadherin 5.			
CDH17	1015	broad.mit.edu	GRCh37	8	95189845	95189845	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0216-01	TCGA-06-0216-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000027335.3:c.255C>T	p.Asp85=	p.D85=	ENST00000027335	NM_004063.3	85	gaC/gaT	0			1			A	D	uc003ygh.2	protein_coding	YES	CCDS6260.1			255/2499									ovary(5)|skin(1)	6	c.(253-255)GAC>GAT			PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF292,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	cadherin 17 precursor				ENSP00000027335		18-Apr									COSM3413164	18-Apr	.		ENST00000027335	Transcript				integral to membrane	calcium ion binding	ENSG00000079112	g.chr8:95189845G>A	1756			LOW								--	--	1																																		CDH17_uc011lgo.1_Silent_p.D85D|CDH17_uc011lgp.1_Silent_p.D85D	1	1			p.D85D	NM_004063	NP_004054			1	CAD17_HUMAN	CDH17	HGNC	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		E5RJT3_HUMAN		4	380	-	Breast(36;4.65e-06)		UPI000013C546	85			Extracellular (Potential).|Cadherin 1.		SNV	CDH17,synonymous_variant,p.=,ENST00000027335,NM_004063.3;CDH17,synonymous_variant,p.=,ENST00000450165,NM_001144663.1;CDH17,synonymous_variant,p.=,ENST00000441892,;CDH17,synonymous_variant,p.=,ENST00000521491,;	uc003ygh.2	c.255C>T	380/3693	1	1			c.255C>T						8	SNP	c.(253-255)GAC>GAT	52	52			ovary(5)|skin(1)	6	Broad	cadherin 17 precursor			95189845		0.458	ENSG00000079112	3045	g.chr8:95189845G>A		integral to membrane	calcium ion binding							-10.876817	KEEP	7	0	-1	74	50	7	0	-1	13.116992	74	50	0.059322	1	0	0	0	0	0	0	1	0	--	--		0	A			CDH17_uc011lgo.1_Silent_p.D85D|CDH17_uc011lgp.1_Silent_p.D85D	51	GBM-06-0216-TP	p.D85D	G	TTGTTTCCCTGTCCAAGGCTC	NM_004063	NP_004054	95189845	Q12864	CAD17_HUMAN	0	BRCA - Breast invasive adenocarcinoma(8;0.00691)		4	380	-	A	A	Breast(36;4.65e-06)		Silent	85			Extracellular (Potential).|Cadherin 1.			
CDH18	1016	broad.mit.edu	GRCh37	5	19747261	19747261	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0184-01	TCGA-06-0184-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000507958.1:c.313G>A	p.Asp105Asn	p.D105N	ENST00000507958		105	Gat/Aat	0			1			T	D/N	uc003jgc.2	protein_coding		CCDS3889.1			313/2373									ovary(5)|large_intestine(1)|skin(1)	7	c.(313-315)GAT>AAT			Low_complexity_(Seg):seg,PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF106,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	cadherin 18, type 2 preproprotein				ENSP00000274170		13-Apr									COSM2150435,COSM2150434	13-Apr	.		ENST00000274170	Transcript			adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000145526	g.chr5:19747261C>T	1757			MODERATE		0.635	neutral	getma.org/?cm=msa&ty=f&p=CAD18_HUMAN&rb=58&re=150&var=D105N	getma.org/pdb.php?prot=CAD18_HUMAN&from=58&to=150&var=D105N	getma.org/?cm=var&var=hg19,5,19747261,C,T&fts=all	D105N	--	--	1																																		CDH18_uc003jgd.2_Missense_Mutation_p.D105N|CDH18_uc011cnm.1_Missense_Mutation_p.D105N	1,1			possibly_damaging(0.452)	p.D105N	NM_004934	NP_004925		deleterious(0.02)	1,1	CAD18_HUMAN	CDH18	HGNC	Q13634	CAD18_HUMAN					3	690	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		UPI0000126DBD	105			Extracellular (Potential).|Cadherin 1.		SNV	CDH18,missense_variant,p.Asp105Asn,ENST00000507958,;CDH18,missense_variant,p.Asp105Asn,ENST00000382275,NM_004934.3,NM_001167667.1;CDH18,missense_variant,p.Asp105Asn,ENST00000274170,;CDH18,missense_variant,p.Asp105Asn,ENST00000506372,;CDH18,missense_variant,p.Asp105Asn,ENST00000502796,;CDH18,missense_variant,p.Asp105Asn,ENST00000511273,;CDH18,missense_variant,p.Asp51Asn,ENST00000515257,;CDH18,non_coding_transcript_exon_variant,,ENST00000508350,;	uc003jgc.2	c.313G>A	825/2885	2	2			c.313G>A						5	SNP	c.(313-315)GAT>AAT	20	20			ovary(5)|large_intestine(1)|skin(1)	7	Broad	cadherin 18, type 2 preproprotein			19747261		0.438	ENSG00000145526	3046	g.chr5:19747261C>T	adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							95.663325	KEEP	16	25	-1	75	71	16	25	-1	107.416487	75	71	0.224852	1	0	0	0	0	1	0	0	0	--	--		0	T			CDH18_uc003jgd.2_Missense_Mutation_p.D105N|CDH18_uc011cnm.1_Missense_Mutation_p.D105N	39	GBM-06-0184-TP	p.D105N	C	CCCGTGGTATCGTCAATGATA	NM_004934	NP_004925	19747261	Q13634	CAD18_HUMAN	0			3	690	-	T	T	Lung NSC(1;0.00734)|all_lung(1;0.0197)		Missense_Mutation	105			Extracellular (Potential).|Cadherin 1.			
CDH18	1016	broad.mit.edu	GRCh37	5	19747216	19747216	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0743-01	TCGA-06-0743-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000507958.1:c.358C>A	p.Gln120Lys	p.Q120K	ENST00000507958		120	Cag/Aag	0			1			T	Q/K	uc003jgc.2	protein_coding		CCDS3889.1			358/2373									ovary(5)|large_intestine(1)|skin(1)	7	c.(358-360)CAG>AAG			PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF106,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	cadherin 18, type 2 preproprotein				ENSP00000274170		13-Apr									COSM3410214,COSM3410213	13-Apr	.		ENST00000274170	Transcript			adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000145526	g.chr5:19747216G>T	1757			MODERATE		-0.35	neutral	getma.org/?cm=msa&ty=f&p=CAD18_HUMAN&rb=58&re=150&var=Q120K	getma.org/pdb.php?prot=CAD18_HUMAN&from=58&to=150&var=Q120K	getma.org/?cm=var&var=hg19,5,19747216,G,T&fts=all	Q120K	--	--	1																																		CDH18_uc003jgd.2_Missense_Mutation_p.Q120K|CDH18_uc011cnm.1_Missense_Mutation_p.Q120K	1,1			benign(0.001)	p.Q120K	NM_004934	NP_004925		tolerated(0.25)	1,1	CAD18_HUMAN	CDH18	HGNC	Q13634	CAD18_HUMAN					3	735	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		UPI0000126DBD	120			Extracellular (Potential).|Cadherin 1.		SNV	CDH18,missense_variant,p.Gln120Lys,ENST00000507958,;CDH18,missense_variant,p.Gln120Lys,ENST00000382275,NM_004934.3,NM_001167667.1;CDH18,missense_variant,p.Gln120Lys,ENST00000274170,;CDH18,missense_variant,p.Gln120Lys,ENST00000506372,;CDH18,missense_variant,p.Gln120Lys,ENST00000502796,;CDH18,missense_variant,p.Gln120Lys,ENST00000511273,;CDH18,missense_variant,p.Gln66Lys,ENST00000515257,;CDH18,non_coding_transcript_exon_variant,,ENST00000508350,;	uc003jgc.2	c.358C>A	870/2885	2	2			c.358C>A						5	SNP	c.(358-360)CAG>AAG	33	33			ovary(5)|large_intestine(1)|skin(1)	7	Broad	cadherin 18, type 2 preproprotein			19747216		0.433	ENSG00000145526	3046	g.chr5:19747216G>T	adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							154.129867	KEEP	20	39	0.338983051	41	59	20	39	0.338983051	156.175444	41	59	0.371429	1	0	0	0	0	1	0	0	0	--	--		0	T			CDH18_uc003jgd.2_Missense_Mutation_p.Q120K|CDH18_uc011cnm.1_Missense_Mutation_p.Q120K	65	GBM-06-0743-TP	p.Q120K	G	TGGGTCTTCTGCTCTCTGTCT	NM_004934	NP_004925	19747216	Q13634	CAD18_HUMAN	0			3	735	-	T	T	Lung NSC(1;0.00734)|all_lung(1;0.0197)		Missense_Mutation	120			Extracellular (Potential).|Cadherin 1.			
CDH18	1016	broad.mit.edu	GRCh37	5	19520824	19520825	+	missense_variant	Missense_Mutation	DNP	GG	GG	AC			TCGA-06-0881-01	TCGA-06-0881-01	GG	GG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000507958.1:c.1453_1454delinsGT	p.Pro485Val	p.P485V	ENST00000507958		485	CCa/GTa	0			1			AC	P/V	uc003jgc.2	protein_coding		CCDS3889.1			1453-1454/2373									ovary(5)|large_intestine(1)|skin(1)	7	c.(1453-1455)CCA>GTA			PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF106,hmmpanther:PTHR24027,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,Prints_domain:PR00205	cadherin 18, type 2 preproprotein				ENSP00000274170		13-Oct										13-Oct	.		ENST00000274170	Transcript			adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000145526	g.chr5:19520824_19520825GG>AC	1757			MODERATE								--	--	1																																		CDH18_uc003jgd.2_Missense_Mutation_p.P485V|CDH18_uc011cnm.1_Missense_Mutation_p.P485V				benign(0.218)	p.P485V	NM_004934	NP_004925		tolerated(0.2)		CAD18_HUMAN	CDH18	HGNC	Q13634	CAD18_HUMAN					9	1830_1831	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		UPI0000126DBD	485			Extracellular (Potential).|Cadherin 4.		substitution	CDH18,missense_variant,p.Pro485Val,ENST00000507958,;CDH18,missense_variant,p.Pro485Val,ENST00000382275,NM_004934.3,NM_001167667.1;CDH18,missense_variant,p.Pro485Val,ENST00000274170,;CDH18,missense_variant,p.Pro485Val,ENST00000506372,;CDH18,missense_variant,p.Pro485Val,ENST00000502796,;CDH18,missense_variant,p.Pro485Val,ENST00000511273,;CDH18,intron_variant,,ENST00000515257,;	uc003jgc.2	c.1453_1454CC>GT	1965-1966/2885	1	1			c.1453_1454CC>GT						5	DNP	c.(1453-1455)CCA>GTA	61	61			ovary(5)|large_intestine(1)|skin(1)	7	Broad	cadherin 18, type 2 preproprotein			19520825		0.381	ENSG00000145526	3046	g.chr5:19520824_19520825GG>AC	adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							37.81943	KEEP	0	0	-1	0	0	0	0	-1	60.902222	0	0	0.140541	1	0	0	0	0	1	0	0	0	--	--		0	AC			CDH18_uc003jgd.2_Missense_Mutation_p.P485V|CDH18_uc011cnm.1_Missense_Mutation_p.P485V	76	GBM-06-0881-TP	p.P485V	GG	AAGTTCGGGTGGATTGTCATTG	NM_004934	NP_004925	19520824	Q13634	CAD18_HUMAN	0			9	1830_1831	-	AC	AC	Lung NSC(1;0.00734)|all_lung(1;0.0197)		Missense_Mutation	485			Extracellular (Potential).|Cadherin 4.			
CDH18	0	broad.mit.edu	GRCh37	5	19503108	19503108	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274170.4:c.1623C>G	p.Asp541Glu	p.D541E	ENST00000274170		541	gaC/gaG	0			1			C	D/E	uc003jgc.2	protein_coding		CCDS3889.1			1623/2373									ovary(5)|large_intestine(1)|skin(1)	7	c.(1621-1623)GAC>GAG			PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF106,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	cadherin 18, type 2 preproprotein				ENSP00000274170		13-Nov									COSM2156046,COSM2156045	13-Nov	.		ENST00000274170	Transcript			adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000145526	g.chr5:19503108G>C	1757			MODERATE		1.77	low	getma.org/?cm=msa&ty=f&p=CAD18_HUMAN&rb=492&re=589&var=D541E	NA	getma.org/?cm=var&var=hg19,5,19503108,G,C&fts=all	D541E	--	--	1																																		CDH18_uc003jgd.2_Missense_Mutation_p.D541E|CDH18_uc011cnm.1_Missense_Mutation_p.D541E	1,1			benign(0.279)	p.D541E	NM_004934	NP_004925		deleterious(0)	1,1	CAD18_HUMAN	CDH18	HGNC	Q13634	CAD18_HUMAN					10	2000	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		UPI0000126DBD	541			Extracellular (Potential).|Cadherin 5.		SNV	CDH18,missense_variant,p.Asp541Glu,ENST00000507958,;CDH18,missense_variant,p.Asp541Glu,ENST00000382275,NM_004934.3,NM_001167667.1;CDH18,missense_variant,p.Asp541Glu,ENST00000274170,;CDH18,missense_variant,p.Asp541Glu,ENST00000506372,;CDH18,missense_variant,p.Asp541Glu,ENST00000502796,;CDH18,missense_variant,p.Asp541Glu,ENST00000511273,;CDH18,intron_variant,,ENST00000515257,;	uc003jgc.2	c.1623C>G	2135/2885	4	4			c.1623C>G						5	SNP	c.(1621-1623)GAC>GAG	47	47			ovary(5)|large_intestine(1)|skin(1)	7	Broad	cadherin 18, type 2 preproprotein			19503108		0.353	ENSG00000145526	3046	g.chr5:19503108G>C	adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							109.134251	KEEP	23	17	-1	46	45	23	17	-1	112.634941	46	45	0.308411	1	0	0	0	0	1	0	0	0	--	--		0	C			CDH18_uc003jgd.2_Missense_Mutation_p.D541E|CDH18_uc011cnm.1_Missense_Mutation_p.D541E	160	GBM-19-1790-TP	p.D541E	G	CACCTTCATTGTCCTTCAGAG	NM_004934	NP_004925	19503108	Q13634	CAD18_HUMAN	0			10	2000	-	C	C	Lung NSC(1;0.00734)|all_lung(1;0.0197)		Missense_Mutation	541			Extracellular (Potential).|Cadherin 5.			
CDH18	0	broad.mit.edu	GRCh37	5	19747074	19747074	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01	TCGA-19-2623-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274170.4:c.500C>T	p.Thr167Ile	p.T167I	ENST00000274170		167	aCt/aTt	0			1			A	T/I	uc003jgc.2	protein_coding		CCDS3889.1			500/2373									ovary(5)|large_intestine(1)|skin(1)	7	c.(499-501)ACT>ATT			PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF106,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313,Prints_domain:PR00205	cadherin 18, type 2 preproprotein				ENSP00000274170		13-Apr									COSM3410212,COSM3410211	13-Apr	.		ENST00000274170	Transcript			adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000145526	g.chr5:19747074G>A	1757			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=CAD18_HUMAN&rb=164&re=259&var=T167I	getma.org/pdb.php?prot=CAD18_HUMAN&from=164&to=259&var=T167I	getma.org/?cm=var&var=hg19,5,19747074,G,A&fts=all	T167I	--	--	1																																		CDH18_uc003jgd.2_Missense_Mutation_p.T167I|CDH18_uc011cnm.1_Missense_Mutation_p.T167I	1,1			benign(0.293)	p.T167I	NM_004934	NP_004925		deleterious(0.03)	1,1	CAD18_HUMAN	CDH18	HGNC	Q13634	CAD18_HUMAN					3	877	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		UPI0000126DBD	167			Extracellular (Potential).|Cadherin 2.		SNV	CDH18,missense_variant,p.Thr167Ile,ENST00000507958,;CDH18,missense_variant,p.Thr167Ile,ENST00000382275,NM_004934.3,NM_001167667.1;CDH18,missense_variant,p.Thr167Ile,ENST00000274170,;CDH18,missense_variant,p.Thr167Ile,ENST00000506372,;CDH18,missense_variant,p.Thr167Ile,ENST00000502796,;CDH18,missense_variant,p.Thr167Ile,ENST00000511273,;CDH18,missense_variant,p.Thr113Ile,ENST00000515257,;CDH18,non_coding_transcript_exon_variant,,ENST00000508350,;	uc003jgc.2	c.500C>T	1012/2885	1	1			c.500C>T						5	SNP	c.(499-501)ACT>ATT	54	54			ovary(5)|large_intestine(1)|skin(1)	7	Broad	cadherin 18, type 2 preproprotein			19747074		0.338	ENSG00000145526	3046	g.chr5:19747074G>A	adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							132.905115	KEEP	25	25	-1	83	56	25	25	-1	139.630164	83	56	0.283019	1	0	0	0	0	1	0	0	0	--	--		0	A			CDH18_uc003jgd.2_Missense_Mutation_p.T167I|CDH18_uc011cnm.1_Missense_Mutation_p.T167I	163	GBM-19-2623-TP	p.T167I	G	TTCAGGCACAGTAACAATGTA	NM_004934	NP_004925	19747074	Q13634	CAD18_HUMAN	0			3	877	-	A	A	Lung NSC(1;0.00734)|all_lung(1;0.0197)		Missense_Mutation	167			Extracellular (Potential).|Cadherin 2.			
CDH18	0	broad.mit.edu	GRCh37	5	19503219	19503219	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G			TCGA-19-5959-01	TCGA-19-5959-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274170.4:c.1513-1G>C		p.X505_splice	ENST00000274170				0			1			G		uc003jgc.2	protein_coding		CCDS3889.1			1513/2373									ovary(5)|large_intestine(1)|skin(1)	7	c.e10-1				cadherin 18, type 2 preproprotein				ENSP00000274170											COSM3410205,COSM3410204		.		ENST00000274170	Transcript			adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000145526	g.chr5:19503219C>G	1757			HIGH	12-Oct							--	--	1																																		CDH18_uc003jgd.2_Splice_Site_p.V505_splice|CDH18_uc011cnm.1_Splice_Site_p.V505_splice	1,1				p.V505_splice	NM_004934	NP_004925			1,1	CAD18_HUMAN	CDH18	HGNC	Q13634	CAD18_HUMAN					10	1890	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		UPI0000126DBD						SNV	CDH18,splice_acceptor_variant,,ENST00000507958,;CDH18,splice_acceptor_variant,,ENST00000382275,NM_004934.3,NM_001167667.1;CDH18,splice_acceptor_variant,,ENST00000274170,;CDH18,splice_acceptor_variant,,ENST00000506372,;CDH18,splice_acceptor_variant,,ENST00000502796,;CDH18,splice_acceptor_variant,,ENST00000511273,;CDH18,intron_variant,,ENST00000515257,;	uc003jgc.2	c.1513_splice	-/2885	5	3			c.1513_splice						5	SNP	c.e10-1	6	6			ovary(5)|large_intestine(1)|skin(1)	7	Broad	cadherin 18, type 2 preproprotein			19503219		0.303	ENSG00000145526	3046	g.chr5:19503219C>G	adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							104.326137	KEEP	21	13	-1	25	5	21	13	-1	104.329736	25	5	0.508197	1	0	0	0	0	0	0	0	1	--	--		0	G			CDH18_uc003jgd.2_Splice_Site_p.V505_splice|CDH18_uc011cnm.1_Splice_Site_p.V505_splice	177	GBM-19-5959-TP	p.V505_splice	C	TATGAATAACCTAAAGAAAAG	NM_004934	NP_004925	19503219	Q13634	CAD18_HUMAN	0			10	1890	-	G	G	Lung NSC(1;0.00734)|all_lung(1;0.0197)		Splice_Site							
CDH19	0	broad.mit.edu	GRCh37	18	64178924	64178925	+	splice_region_variant,intron_variant	Splice_Region	INS	-	-	A			TCGA-19-5947-01	TCGA-19-5947-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262150.2:c.1459-3dupT		p.X487_splice	ENST00000262150	NM_021153.3			0	A:0.0019		1			A		uc002lkc.1	protein_coding	YES	CCDS11994.1			-/2319									ovary(1)|skin(1)	2	c.e10-1				cadherin 19, type 2 preproprotein			A:0.0015	ENSP00000262150											rs777073717		.		ENST00000262150	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000071991	g.chr18:64178924_64178925insA	1758			LOW	11-Sep							--	--	1																																		CDH19_uc010dql.1_Splice_Site|CDH19_uc010xey.1_Intron		1			p.V487_splice	NM_021153	NP_066976				CAD19_HUMAN	CDH19	HGNC	Q9H159	CAD19_HUMAN			Q96KY9_HUMAN,J3QS15_HUMAN,F8VVI9_HUMAN		10	1597	-		Esophageal squamous(42;0.0132)	UPI0000048ECF						insertion	CDH19,splice_region_variant,,ENST00000262150,NM_021153.3;CDH19,intron_variant,,ENST00000540086,NM_001271028.1;CDH19,splice_region_variant,,ENST00000579658,;	uc002lkc.1	c.1459_splice	-/6341	5	5			c.1459_splice						18	INS	c.e10-1	8	8			ovary(1)|skin(1)	2	Broad	cadherin 19, type 2 preproprotein			64178925		0.317	ENSG00000071991	3047	g.chr18:64178924_64178925insA	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding																				0.06	1	0	0	1	1	0	0	0	1	--	--		0	A			CDH19_uc010dql.1_Splice_Site|CDH19_uc010xey.1_Intron	169	GBM-19-5947-TP	p.V487_splice	-	CTGAATTACCTAAAAAAAAAGG	NM_021153	NP_066976	64178924	Q9H159	CAD19_HUMAN	0			10	1597	-	A	A		Esophageal squamous(42;0.0132)	Splice_Site							
CDH19	0	broad.mit.edu	GRCh37	18	64218401	64218401	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-1838-01	TCGA-27-1838-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262150.2:c.705G>A	p.Ala235=	p.A235=	ENST00000262150	NM_021153.3	235	gcG/gcA	0	T:0.0002		1			T	A	uc002lkc.1	protein_coding	YES	CCDS11994.1			705/2319									ovary(1)|skin(1)	2	c.(703-705)GCG>GCA			Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF255,SMART_domains:SM00112,Superfamily_domains:SSF49313	cadherin 19, type 2 preproprotein			T:0	ENSP00000262150		12-May	8.24E-06	9.66E-05							rs367564105,COSM3403624	12-May	.		ENST00000262150	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000071991	g.chr18:64218401C>T	1758			LOW								--	--	1																																		CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Silent_p.A235A|CDH19_uc002lkd.2_Silent_p.A235A	0,1	1			p.A235A	NM_021153	NP_066976			0,1	CAD19_HUMAN	CDH19	HGNC	Q9H159	CAD19_HUMAN			Q96KY9_HUMAN,J3QS15_HUMAN,F8VVI9_HUMAN		5	843	-		Esophageal squamous(42;0.0132)	UPI0000048ECF	235			Cadherin 2.|Extracellular (Potential).		SNV	CDH19,synonymous_variant,p.=,ENST00000262150,NM_021153.3;CDH19,synonymous_variant,p.=,ENST00000540086,NM_001271028.1;CDH19,synonymous_variant,p.=,ENST00000454642,;CDH19,synonymous_variant,p.=,ENST00000579658,;	uc002lkc.1	c.705G>A	998/6341	2	2			c.705G>A						18	SNP	c.(703-705)GCG>GCA	30	30			ovary(1)|skin(1)	2	Broad	cadherin 19, type 2 preproprotein			64218401		0.328	ENSG00000071991	3047	g.chr18:64218401C>T	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							240.34247	KEEP	42	44	-1	14	16	42	44	-1	245.501376	14	16	0.742268	1	0	0	0	0	0	0	1	0	--	--		0	T			CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Silent_p.A235A|CDH19_uc002lkd.2_Silent_p.A235A	197	GBM-27-1838-TP	p.A235A	C	TTCCAGACAACGCTCCTGGCT	NM_021153	NP_066976	64218401	Q9H159	CAD19_HUMAN	0			5	843	-	T	T		Esophageal squamous(42;0.0132)	Silent	235			Cadherin 2.|Extracellular (Potential).			
CDH19	0	broad.mit.edu	GRCh37	18	64218345	64218345	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262150.2:c.761C>T	p.Pro254Leu	p.P254L	ENST00000262150	NM_021153.3	254	cCt/cTt	0			1			A	P/L	uc002lkc.1	protein_coding	YES	CCDS11994.1			761/2319									ovary(1)|skin(1)	2	c.(760-762)CCT>CTT			Gene3D:2.60.40.60,Prints_domain:PR00205,Prints_domain:PR00205,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF255,SMART_domains:SM00112,Superfamily_domains:SSF49313	cadherin 19, type 2 preproprotein				ENSP00000262150		12-May									COSM3403623	12-May	.		ENST00000262150	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000071991	g.chr18:64218345G>A	1758			MODERATE		4.155	high	getma.org/?cm=msa&ty=f&p=CAD19_HUMAN&rb=149&re=256&var=P254L	getma.org/pdb.php?prot=CAD19_HUMAN&from=149&to=256&var=P254L	getma.org/?cm=var&var=hg19,18,64218345,G,A&fts=all	P254L	--	--	1																																		CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.P254L|CDH19_uc002lkd.2_Missense_Mutation_p.P254L	1	1		probably_damaging(0.999)	p.P254L	NM_021153	NP_066976		deleterious(0)	1	CAD19_HUMAN	CDH19	HGNC	Q9H159	CAD19_HUMAN			Q96KY9_HUMAN,J3QS15_HUMAN,F8VVI9_HUMAN		5	899	-		Esophageal squamous(42;0.0132)	UPI0000048ECF	254			Cadherin 2.|Extracellular (Potential).		SNV	CDH19,missense_variant,p.Pro254Leu,ENST00000262150,NM_021153.3;CDH19,missense_variant,p.Pro254Leu,ENST00000540086,NM_001271028.1;CDH19,missense_variant,p.Pro243Leu,ENST00000454642,;CDH19,missense_variant,p.Pro254Leu,ENST00000579658,;	uc002lkc.1	c.761C>T	1054/6341	2	2			c.761C>T						18	SNP	c.(760-762)CCT>CTT	41	41			ovary(1)|skin(1)	2	Broad	cadherin 19, type 2 preproprotein			64218345		0.294	ENSG00000071991	3047	g.chr18:64218345G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							25.498305	KEEP	3	6	-1	7	3	3	6	-1	25.51115	7	3	0.470588	1	0	0	0	0	1	0	0	0	--	--		0	A			CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.P254L|CDH19_uc002lkd.2_Missense_Mutation_p.P254L	230	GBM-32-1979-TP	p.P254L	G	TTTAAATATAGGCTTATTGTC	NM_021153	NP_066976	64218345	Q9H159	CAD19_HUMAN	0			5	899	-	A	A		Esophageal squamous(42;0.0132)	Missense_Mutation	254			Cadherin 2.|Extracellular (Potential).			
CDH19	0	broad.mit.edu	GRCh37	18	64211976	64211978	+	inframe_deletion	In_Frame_Del	DEL	CTT	CTT	-			TCGA-76-6191-01	TCGA-76-6191-01	CTT	CTT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262150.2:c.938_940delAAG	p.Glu313del	p.E313del	ENST00000262150	NM_021153.3	313	gAAGga/gga	0			1			-	EG/G	uc002lkc.1	protein_coding	YES	CCDS11994.1			938-940/2319									ovary(1)|skin(1)	2	c.(937-942)GAAGGA>GGA			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF255,SMART_domains:SM00112,Superfamily_domains:SSF49313	cadherin 19, type 2 preproprotein				ENSP00000262150		12-Jun										12-Jun	.		ENST00000262150	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000071991	g.chr18:64211976_64211978delCTT	1758			MODERATE								--	--	1																																		CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_In_Frame_Del_p.E313del|CDH19_uc002lkd.2_In_Frame_Del_p.E313del		1			p.E313del	NM_021153	NP_066976				CAD19_HUMAN	CDH19	HGNC	Q9H159	CAD19_HUMAN			Q96KY9_HUMAN,J3QS15_HUMAN,F8VVI9_HUMAN		6	1076_1078	-		Esophageal squamous(42;0.0132)	UPI0000048ECF	313			Cadherin 3.|Extracellular (Potential).		deletion	CDH19,inframe_deletion,p.Glu313del,ENST00000262150,NM_021153.3;CDH19,inframe_deletion,p.Glu313del,ENST00000540086,NM_001271028.1;CDH19,inframe_deletion,p.Glu302del,ENST00000454642,;CDH19,inframe_deletion,p.Glu313del,ENST00000579658,;	uc002lkc.1	c.938_940delAAG	1231-1233/6341	5	5			c.938_940delAAG						18	DEL	c.(937-942)GAAGGA>GGA	8	8			ovary(1)|skin(1)	2	Broad	cadherin 19, type 2 preproprotein			64211978		0.3	ENSG00000071991	3047	g.chr18:64211976_64211978delCTT	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding																				0.45	1	1	0	1	0	0	0	0	0	--	--		0	-			CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_In_Frame_Del_p.E313del|CDH19_uc002lkd.2_In_Frame_Del_p.E313del	274	GBM-76-6191-TP	p.E313del	CTT	ATAACTATTCCTTCTTGAGTTTC	NM_021153	NP_066976	64211976	Q9H159	CAD19_HUMAN	0			6	1076_1078	-	-	-		Esophageal squamous(42;0.0132)	In_Frame_Del	313			Cadherin 3.|Extracellular (Potential).			
CDH2	0	broad.mit.edu	GRCh37	18	25591942	25591942	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-12-0688-01	TCGA-12-0688-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269141.3:c.414T>G	p.Val138=	p.V138=	ENST00000269141	NM_001792.3	138	gtT/gtG	0			1			C	V	uc002kwg.2	protein_coding	YES	CCDS11891.1			414/2721									ovary(3)|lung(1)	4	c.(412-414)GTT>GTG			Low_complexity_(Seg):seg,hmmpanther:PTHR24027:SF79,hmmpanther:PTHR24027,Superfamily_domains:SSF49313	cadherin 2, type 1 preproprotein				ENSP00000269141		16-Apr									COSM2153953	16-Apr	.		ENST00000269141	Transcript			adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	ENSG00000170558	g.chr18:25591942A>C	1759			LOW								--	--	1																																		CDH2_uc010xbn.1_Silent_p.V107V	1	1			p.V138V	NM_001792	NP_001783			1	CADH2_HUMAN	CDH2	HGNC	P19022	CADH2_HUMAN			C9JMH2_HUMAN,C9J126_HUMAN		4	873	-			UPI000013D7FD	138					SNV	CDH2,synonymous_variant,p.=,ENST00000269141,NM_001792.3;CDH2,synonymous_variant,p.=,ENST00000399380,;CDH2,synonymous_variant,p.=,ENST00000418492,;CDH2,synonymous_variant,p.=,ENST00000430882,;CDH2,synonymous_variant,p.=,ENST00000413878,;	uc002kwg.2	c.414T>G	838/4332	3	3			c.414T>G						18	SNP	c.(412-414)GTT>GTG	14	14			ovary(3)|lung(1)	4	Broad	cadherin 2, type 1 preproprotein			25591942		0.388	ENSG00000170558	3048	g.chr18:25591942A>C	adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			264			264	246.532215	KEEP	37	43	-1	73	44	37	43	-1	247.684889	73	44	0.411765	1	0	0	0	0	0	0	1	0	--	--		0	C			CDH2_uc010xbn.1_Silent_p.V107V	121	GBM-12-0688-TP	p.V138V	A	CTATTTCTTCAACTTCTGCTG	NM_001792	NP_001783	25591942	P19022	CADH2_HUMAN	0			4	873	-	C	C			Silent	138						
CDH20	28316	broad.mit.edu	GRCh37	18	59158011	59158011	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262717.4:c.225C>T	p.Thr75=	p.T75=	ENST00000262717		75	acC/acT	0			1			T	T	uc010dps.1	protein_coding	YES	CCDS11977.1			225/2406									breast(3)|ovary(1)|pancreas(1)	5	c.(223-225)ACC>ACT			Pfam_domain:PF00028,hmmpanther:PTHR24027:SF84,hmmpanther:PTHR24027	cadherin 20, type 2 preproprotein				ENSP00000262717		12-Feb										12-Feb	.		ENST00000262717	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000101542	g.chr18:59158011C>T	1760			LOW								--	--	1																																		CDH20_uc002lif.2_Silent_p.T69T		1			p.T75T	NM_031891	NP_114097				CAD20_HUMAN	CDH20	HGNC	Q9HBT6	CAD20_HUMAN			Q8N9J3_HUMAN,K7ESP2_HUMAN		1	237	+		Colorectal(73;0.186)	UPI000013D30D	75			Cadherin 1.|Extracellular (Potential).		SNV	CDH20,synonymous_variant,p.=,ENST00000262717,;CDH20,synonymous_variant,p.=,ENST00000536675,NM_031891.2;CDH20,synonymous_variant,p.=,ENST00000538374,;	uc010dps.1	c.225C>T	623/3882	1	1			c.225C>T						18	SNP	c.(223-225)ACC>ACT	4	4			breast(3)|ovary(1)|pancreas(1)	5	Broad	cadherin 20, type 2 preproprotein			59158011		0.448	ENSG00000101542	3049	g.chr18:59158011C>T	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							-10.080659	KEEP	7	7	-1	104	106	7	7	-1	30.035597	104	106	0.064039	1	0	0	0	0	0	0	1	0	--	--		0	T			CDH20_uc002lif.2_Silent_p.T69T	18	GBM-06-0137-TP	p.T75T	C	ACACTGGGACCGACCCTTTGT	NM_031891	NP_114097	59158011	Q9HBT6	CAD20_HUMAN	0			1	237	+	T	T		Colorectal(73;0.186)	Silent	75			Cadherin 1.|Extracellular (Potential).			
CDH22	0	broad.mit.edu	GRCh37	20	44841697	44841697	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4927-01	TCGA-76-4927-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372262.3:c.969C>T	p.Gly323=	p.G323=	ENST00000372262		323	ggC/ggT	0			1			A	G	uc002xrm.2	protein_coding	YES	CCDS13395.1			969/2487									ovary(4)|skin(1)	5	c.(967-969)GGC>GGT			PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF88,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	cadherin 22 precursor				ENSP00000361336		11-May	0.000173			0.00231		1.50E-05			rs776689954,COSM3405162	11-May	common_variant		ENST00000372262	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000149654	g.chr20:44841697G>A	13251			LOW								--	--	1																																		CDH22_uc010ghk.1_Silent_p.G323G|CDH22_uc002xrn.1_Silent_p.G74G	0,1	1			p.G323G	NM_021248	NP_067071			0,1	CAD22_HUMAN	CDH22	HGNC	Q9UJ99	CAD22_HUMAN			Q49AS4_HUMAN		5	1370	-		Myeloproliferative disorder(115;0.0122)	UPI0000126DC0	323			Extracellular (Potential).|Cadherin 3.		SNV	CDH22,synonymous_variant,p.=,ENST00000372262,;CDH22,synonymous_variant,p.=,ENST00000537909,NM_021248.2;CDH22,non_coding_transcript_exon_variant,,ENST00000474438,;	uc002xrm.2	c.969C>T	1370/3661	2	2			c.969C>T						20	SNP	c.(967-969)GGC>GGT	45	45			ovary(4)|skin(1)	5	Broad	cadherin 22 precursor			44841697		0.592	ENSG00000149654	3050	g.chr20:44841697G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							109.778068	KEEP	21	24	-1	39	40	21	24	-1	110.233835	39	40	0.425532	1	0	0	0	0	0	0	1	0	--	--		0	A			CDH22_uc010ghk.1_Silent_p.G323G|CDH22_uc002xrn.1_Silent_p.G74G	267	GBM-76-4927-TP	p.G323G	G	ACACATCGCCGCCGCTGCTGC	NM_021248	NP_067071	44841697	Q9UJ99	CAD22_HUMAN	0			5	1370	-	A	A		Myeloproliferative disorder(115;0.0122)	Silent	323			Extracellular (Potential).|Cadherin 3.			
CDH23	64072	broad.mit.edu	GRCh37	10	73544851	73544851	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-6389-01	TCGA-06-6389-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000224721.6:c.5721T>C	p.Asn1907=	p.N1907=	ENST00000224721	NM_022124.5	1907	aaT/aaC	0			1			C	N	uc001jrx.3	protein_coding					5721/10080									central_nervous_system(5)|large_intestine(4)|ovary(2)	11	c.(5704-5706)AAT>AAC			PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF277,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	cadherin-like 23 isoform 1 precursor				ENSP00000224721		42/69	8.27E-06		8.66E-05						rs755451021	42/69	.		ENST00000224721	Transcript	1		calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	ENSG00000107736	g.chr10:73544851T>C	13733			LOW								--	--	1																																				1			p.N1902N	NM_022124	NP_071407					CDH23	HGNC	Q9H251	CAD23_HUMAN					41	6083	+			UPI0002B831D5	1902			Cadherin 18.|Extracellular (Potential).		SNV	CDH23,synonymous_variant,p.=,ENST00000224721,NM_022124.5;	uc001jrx.3	c.5706T>C	5726/10085	3	3			c.5706T>C						10	SNP	c.(5704-5706)AAT>AAC	63	63			central_nervous_system(5)|large_intestine(4)|ovary(2)	11	Broad	cadherin-like 23 isoform 1 precursor			73544851		0.597	ENSG00000107736	3051	g.chr10:73544851T>C	calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding							26.534275	KEEP	6	10	-1	29	32	6	10	-1	32.596538	29	32	0.191176	1	0	0	0	0	0	0	1	0	--	--		0	C				105	GBM-06-6389-TP	p.N1902N	T	TCTTCATCAATGCCACGGTAG	NM_022124	NP_071407	73544851	Q9H251	CAD23_HUMAN	0			41	6083	+	C	C			Silent	1902			Cadherin 18.|Extracellular (Potential).			
CDH23	0	broad.mit.edu	GRCh37	10	73375274	73375274	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-28-5215-01	TCGA-28-5215-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000224721.6:c.861C>G	p.Ser287Arg	p.S287R	ENST00000224721	NM_022124.5	287	agC/agG	0			1			G	S/R	uc001jrx.3	protein_coding					861/10080									central_nervous_system(5)|large_intestine(4)|ovary(2)	11	c.(844-846)AGC>AGG			PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF277,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	cadherin-like 23 isoform 1 precursor				ENSP00000224721		Sep-69									COSM3397223,COSM3397224,COSM3397222,COSM3397225	Sep-69	.		ENST00000224721	Transcript	1		calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	ENSG00000107736	g.chr10:73375274C>G	13733			MODERATE		0.925	low	getma.org/?cm=msa&ty=f&p=CAD23_HUMAN&rb=241&re=337&var=S282R	getma.org/pdb.php?prot=CAD23_HUMAN&from=241&to=337&var=S282R	getma.org/?cm=var&var=hg19,10,73375274,C,G&fts=all	S282R	--	--	1																																		CDH23_uc001jrw.3_Missense_Mutation_p.S282R|CDH23_uc009xql.2_Missense_Mutation_p.S327R	1,1,1,1			probably_damaging(0.996)	p.S282R	NM_022124	NP_071407		deleterious(0.04)	1,1,1,1		CDH23	HGNC	Q9H251	CAD23_HUMAN					10	1223	+			UPI0002B831D5	282			Cadherin 3.|Extracellular (Potential).		SNV	CDH23,missense_variant,p.Ser287Arg,ENST00000224721,NM_022124.5;CDH23,missense_variant,p.Ser73Arg,ENST00000466757,;CDH23,missense_variant,p.Ser327Arg,ENST00000299366,NM_001171931.1;CDH23,missense_variant,p.Ser282Arg,ENST00000398809,NM_052836.3;CDH23,missense_variant,p.Ser327Arg,ENST00000461841,;CDH23,missense_variant,p.Ser282Arg,ENST00000398842,;CDH23,upstream_gene_variant,,ENST00000470494,;	uc001jrx.3	c.846C>G	866/10085	4	4			c.846C>G						10	SNP	c.(844-846)AGC>AGG	32	32			central_nervous_system(5)|large_intestine(4)|ovary(2)	11	Broad	cadherin-like 23 isoform 1 precursor			73375274		0.607	ENSG00000107736	3051	g.chr10:73375274C>G	calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding							-4.828876	KEEP	3	1	-1	31	35	3	1	-1	8.059421	31	35	0.05	1	0	0	0	0	1	0	0	0	--	--		0	G			CDH23_uc001jrw.3_Missense_Mutation_p.S282R|CDH23_uc009xql.2_Missense_Mutation_p.S327R	222	GBM-28-5215-TP	p.S282R	C	ATACCAACAGCATCTTTGCCC	NM_022124	NP_071407	73375274	Q9H251	CAD23_HUMAN	0			10	1223	+	G	G			Missense_Mutation	282			Cadherin 3.|Extracellular (Potential).			
CDH23	0	broad.mit.edu	GRCh37	10	73462359	73462359	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-41-2571-01	TCGA-41-2571-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000224721.6:c.2656T>C	p.Leu886=	p.L886=	ENST00000224721	NM_022124.5	886	Ttg/Ctg	0			1			C	L	uc001jrx.3	protein_coding					2656/10080									central_nervous_system(5)|large_intestine(4)|ovary(2)	11	c.(2641-2643)TTG>CTG			PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF277,hmmpanther:PTHR24027,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	cadherin-like 23 isoform 1 precursor				ENSP00000224721		23/69									COSM3397230,COSM3397231,COSM3397232	23/69	.		ENST00000224721	Transcript	1		calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	ENSG00000107736	g.chr10:73462359T>C	13733			LOW								--	--	1																																		CDH23_uc001jry.2_Silent_p.L497L|CDH23_uc001jrz.2_Silent_p.L497L	1,1,1	1			p.L881L	NM_022124	NP_071407			1,1,1		CDH23	HGNC	Q9H251	CAD23_HUMAN					23	3018	+			UPI0002B831D5	881			Cadherin 8.|Extracellular (Potential).		SNV	CDH23,synonymous_variant,p.=,ENST00000224721,NM_022124.5;CDH23,synonymous_variant,p.=,ENST00000442677,;CDH23,synonymous_variant,p.=,ENST00000466757,;CDH23,synonymous_variant,p.=,ENST00000299366,NM_001171931.1;	uc001jrx.3	c.2641T>C	2661/10085	3	3			c.2641T>C						10	SNP	c.(2641-2643)TTG>CTG	60	60			central_nervous_system(5)|large_intestine(4)|ovary(2)	11	Broad	cadherin-like 23 isoform 1 precursor			73462359		0.577	ENSG00000107736	3051	g.chr10:73462359T>C	calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding							-45.596722	KEEP	0	4	-1	111	114	0	4	-1	9.593417	111	114	0.018868	1	0	0	0	0	0	0	1	0	--	--		0	C			CDH23_uc001jry.2_Silent_p.L497L|CDH23_uc001jrz.2_Silent_p.L497L	250	GBM-41-2571-TP	p.L881L	T	TGTGAACCTCTTGGATCTCAA	NM_022124	NP_071407	73462359	Q9H251	CAD23_HUMAN	0			23	3018	+	C	C			Silent	881			Cadherin 8.|Extracellular (Potential).			
CDH23	64072		GRCh37	10	73567464	73567464	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000398788.3:c.1780G>A	p.Val594Ile	p.V594I	ENST00000398788	NM_001171933.1	594	Gtt/Att	0																																																																																																																																																																																																																																												
CDH24	0	broad.mit.edu	GRCh37	14	23524268	23524268	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6701-01	TCGA-06-6701-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267383.5:c.496G>A	p.Gly166Arg	p.G166R	ENST00000267383		166	Ggg/Agg	0			1			T	G/R	uc001wil.2	protein_coding		CCDS9585.1			496/2460									central_nervous_system(1)	1	c.(496-498)GGG>AGG			Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF272,Superfamily_domains:SSF49313	cadherin-like 24 isoform 1				ENSP00000267383		12-Feb									COSM3401238,COSM3401237	12-Feb	.		ENST00000267383	Transcript			adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	ENSG00000139880	g.chr14:23524268C>T	14265			MODERATE		4.055	high	getma.org/?cm=msa&ty=f&p=CAD24_HUMAN&rb=155&re=250&var=G166R	getma.org/pdb.php?prot=CAD24_HUMAN&from=155&to=250&var=G166R	getma.org/?cm=var&var=hg19,14,23524268,C,T&fts=all	G166R	--	--	1																																OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	CDH24_uc010akf.2_Missense_Mutation_p.G166R|CDH24_uc001win.3_Missense_Mutation_p.G166R	1,1			probably_damaging(1)	p.G166R	NM_022478	NP_071923		deleterious(0)	1,1	CAD24_HUMAN	CDH24	HGNC	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	Q86TS8_HUMAN,Q4VBZ5_HUMAN		3	756	-	all_cancers(95;3.3e-05)		UPI0000190F86	166			Cadherin 2.|Extracellular (Potential).		SNV	CDH24,missense_variant,p.Gly166Arg,ENST00000397359,NM_022478.3;CDH24,missense_variant,p.Gly166Arg,ENST00000487137,NM_144985.3;CDH24,missense_variant,p.Gly166Arg,ENST00000267383,;CDH24,missense_variant,p.Gly166Arg,ENST00000554034,;ACIN1,downstream_gene_variant,,ENST00000262710,NM_001164814.1,NM_014977.3;ACIN1,downstream_gene_variant,,ENST00000457657,NM_001164815.1;ACIN1,downstream_gene_variant,,ENST00000605057,;ACIN1,downstream_gene_variant,,ENST00000555053,;ACIN1,downstream_gene_variant,,ENST00000557515,;ACIN1,downstream_gene_variant,,ENST00000397341,;ACIN1,downstream_gene_variant,,ENST00000357481,NM_001164817.1;ACIN1,downstream_gene_variant,,ENST00000338631,NM_001164816.1;CDH24,upstream_gene_variant,,ENST00000485922,;ACIN1,downstream_gene_variant,,ENST00000473758,;	uc001wil.2	c.496G>A	589/2873	1	1			c.496G>A						14	SNP	c.(496-498)GGG>AGG	4	4			central_nervous_system(1)	1	Broad	cadherin-like 24 isoform 1			23524268		0.552	ENSG00000139880	3052	g.chr14:23524268C>T	adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding							173.496847	KEEP	29	40	-1	44	58	29	40	-1	174.595163	44	58	0.406897	1	0	0	0	0	1	0	0	0	--	--		0	T	OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	CDH24_uc010akf.2_Missense_Mutation_p.G166R|CDH24_uc001win.3_Missense_Mutation_p.G166R	115	GBM-06-6701-TP	p.G166R	C	GGGTGCTCACCGACATTGGAC	NM_022478	NP_071923	23524268	Q86UP0	CAD24_HUMAN	0		GBM - Glioblastoma multiforme(265;0.00654)	3	756	-	T	T	all_cancers(95;3.3e-05)		Missense_Mutation	166			Cadherin 2.|Extracellular (Potential).			
CDH4	1002	broad.mit.edu	GRCh37	20	60504710	60504710	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2570-01	TCGA-06-2570-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360469.5:c.2049C>T	p.Ala683=	p.A683=	ENST00000360469	NM_001794.3	683	gcC/gcT	0			1			T	A	uc002ybn.1	protein_coding	YES	CCDS13488.1			2049/2751									lung(3)|ovary(2)|skin(1)	6	c.(2047-2049)GCC>GCT			Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF81,SMART_domains:SM00112,Superfamily_domains:SSF49313	cadherin 4, type 1 preproprotein				ENSP00000353656		13/16	4.12E-05			0.000116		3.00E-05		0.000121	rs201703403,COSM159897	13/16	.		ENST00000360469	Transcript			adherens junction organization|cell junction assembly		calcium ion binding	ENSG00000179242	g.chr20:60504710C>T	1763			LOW								--	--	1																																		CDH4_uc002ybp.1_Silent_p.A609A	0,1	1			p.A683A	NM_001794	NP_001785			0,1	CADH4_HUMAN	CDH4	HGNC	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		Q8ND09_HUMAN		13	2063	+			UPI000015FE86	683			Extracellular (Potential).|Cadherin 5.		SNV	CDH4,synonymous_variant,p.=,ENST00000360469,NM_001794.3;CDH4,synonymous_variant,p.=,ENST00000543233,NM_001252339.1,NM_001252338.1;	uc002ybn.1	c.2049C>T	2137/6511	1	1			c.2049C>T						20	SNP	c.(2047-2049)GCC>GCT	8	8			lung(3)|ovary(2)|skin(1)	6	Broad	cadherin 4, type 1 preproprotein			60504710		0.547	ENSG00000179242	3055	g.chr20:60504710C>T	adherens junction organization|cell junction assembly		calcium ion binding							4.920846	KEEP	7	5	-1	71	58	7	5	-1	25.248032	71	58	0.08547	1	0	0	0	0	0	0	1	0	--	--		0	T			CDH4_uc002ybp.1_Silent_p.A609A	91	GBM-06-2570-TP	p.A683A	C	ACCTGGAGGCCGGGATGTATG	NM_001794	NP_001785	60504710	P55283	CADH4_HUMAN	0	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		13	2063	+	T	T			Silent	683			Extracellular (Potential).|Cadherin 5.			
CDH4	1002		GRCh37	20	60503346	60503346	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000360469.5:c.1870G>A	p.Glu624Lys	p.E624K	ENST00000360469	NM_001794.3	624	Gag/Aag	0																																																																																																																																																																																																																																												
CDH5	0	broad.mit.edu	GRCh37	16	66429972	66429972	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01	TCGA-26-5136-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341529.3:c.1228C>T	p.Arg410Cys	p.R410C	ENST00000341529	NM_001795.3	410	Cgc/Tgc	0	T:0		1			T	R/C	uc002eom.3	protein_coding	YES	CCDS10804.1			1228/2355									ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	c.(1228-1230)CGC>TGC			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF89,SMART_domains:SM00112,Superfamily_domains:SSF49313	cadherin 5, type 2 preproprotein			T:0.0001	ENSP00000344115		12-Aug	2.47E-05					3.00E-05		6.06E-05	rs376317308,COSM2157133	12-Aug	.		ENST00000341529	Transcript			adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	ENSG00000179776	g.chr16:66429972C>T	1764			MODERATE		2.595	medium	getma.org/?cm=msa&ty=f&p=CADH5_HUMAN&rb=377&re=470&var=R410C	NA	getma.org/?cm=var&var=hg19,16,66429972,C,T&fts=all	R410C	--	--	1																																			0,1	1		probably_damaging(0.99)	p.R410C	NM_001795	NP_001786		deleterious(0.03)	0,1	CADH5_HUMAN	CDH5	HGNC	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Q59EA3_HUMAN,I3L1J2_HUMAN,H3BR64_HUMAN,H3BPG1_HUMAN,B4DTR2_HUMAN		8	1384	+		Ovarian(137;0.0955)	UPI000016B272	410			Cadherin 4.|Extracellular (Potential).		SNV	CDH5,missense_variant,p.Arg410Cys,ENST00000341529,NM_001795.3;CDH5,5_prime_UTR_variant,,ENST00000539168,;CDH5,downstream_gene_variant,,ENST00000563425,;CDH5,3_prime_UTR_variant,,ENST00000565334,;	uc002eom.3	c.1228C>T	1376/4117	2	2			c.1228C>T						16	SNP	c.(1228-1230)CGC>TGC	34	34			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	Broad	cadherin 5, type 2 preproprotein			66429972		0.493	ENSG00000179776	3056	g.chr16:66429972C>T	adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding							174.735111	KEEP	30	38	-1	55	62	30	38	-1	177.537158	55	62	0.358491	1	0	0	0	0	1	0	0	0	--	--		0	T				185	GBM-26-5136-TP	p.R410C	C	ATACTCCATCCGCAGGACCAG	NM_001795	NP_001786	66429972	P33151	CADH5_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.107)	8	1384	+	T	T		Ovarian(137;0.0955)	Missense_Mutation	410			Cadherin 4.|Extracellular (Potential).			
CDH5	1003		GRCh37	16	66432371	66432371	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000341529.3:c.1498A>C	p.Ile500Leu	p.I500L	ENST00000341529	NM_001795.3	500	Atc/Ctc	0																																																																																																																																																																																																																																												
CDH7	1005	broad.mit.edu	GRCh37	18	63477003	63477003	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0644-01	TCGA-06-0644-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397968.2:c.274A>G	p.Ser92Gly	p.S92G	ENST00000397968	NM_004361.2	92	Agt/Ggt	0			1			G	S/G	uc002ljz.2	protein_coding		CCDS11993.1			274/2358									ovary(2)|pancreas(1)|skin(1)	4	c.(274-276)AGT>GGT			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF91,SMART_domains:SM00112,Superfamily_domains:SSF49313	cadherin 7, type 2 preproprotein				ENSP00000319166		12-Mar									COSM3403619,COSM3403620	12-Mar	.		ENST00000323011	Transcript			adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000081138	g.chr18:63477003A>G	1766			MODERATE		-1.255	neutral	getma.org/?cm=msa&ty=f&p=CADH7_HUMAN&rb=53&re=144&var=S92G	getma.org/pdb.php?prot=CADH7_HUMAN&from=53&to=144&var=S92G	getma.org/?cm=var&var=hg19,18,63477003,A,G&fts=all	S92G	--	--	1																																		CDH7_uc002lka.2_Missense_Mutation_p.S92G|CDH7_uc002lkb.2_Missense_Mutation_p.S92G	1,1			benign(0.002)	p.S92G	NM_033646	NP_387450		tolerated(1)	1,1	CADH7_HUMAN	CDH7	HGNC	Q9ULB5	CADH7_HUMAN					3	599	+		Esophageal squamous(42;0.129)	UPI000013D269	92			Extracellular (Potential).|Cadherin 1.		SNV	CDH7,missense_variant,p.Ser92Gly,ENST00000536984,;CDH7,missense_variant,p.Ser92Gly,ENST00000397968,NM_004361.2;CDH7,missense_variant,p.Ser92Gly,ENST00000323011,NM_033646.1;	uc002ljz.2	c.274A>G	599/2728	3	3			c.274A>G						18	SNP	c.(274-276)AGT>GGT	13	13			ovary(2)|pancreas(1)|skin(1)	4	Broad	cadherin 7, type 2 preproprotein			63477003		0.448	ENSG00000081138	3058	g.chr18:63477003A>G	adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							35.823643	KEEP	11	11	-1	74	64	11	11	-1	54.064576	74	64	0.134752	1	0	0	0	0	1	0	0	0	--	--		0	G			CDH7_uc002lka.2_Missense_Mutation_p.S92G|CDH7_uc002lkb.2_Missense_Mutation_p.S92G	58	GBM-06-0644-TP	p.S92G	A	CGAAGGGGCAAGTTCCATTTT	NM_033646	NP_387450	63477003	Q9ULB5	CADH7_HUMAN	0			3	599	+	G	G		Esophageal squamous(42;0.129)	Missense_Mutation	92			Extracellular (Potential).|Cadherin 1.			
CDH7	0	broad.mit.edu	GRCh37	18	63547824	63547824	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323011.3:c.2052G>A	p.Arg684=	p.R684=	ENST00000323011	NM_033646.1	684	agG/agA	0			1			A	R	uc002ljz.2	protein_coding		CCDS11993.1			2052/2358						not_provided			ovary(2)|pancreas(1)|skin(1)	4	c.(2050-2052)AGG>AGA			Pfam_domain:PF01049,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF91	cadherin 7, type 2 preproprotein				ENSP00000319166		12-Dec									rs267605240,COSM3403621,COSM3403622	12-Dec	.		ENST00000323011	Transcript			adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000081138	g.chr18:63547824G>A	1766			LOW								--	--	1																																		CDH7_uc002lkb.2_Silent_p.R684R	1,1,1				p.R684R	NM_033646	NP_387450			0,1,1	CADH7_HUMAN	CDH7	HGNC	Q9ULB5	CADH7_HUMAN					12	2377	+		Esophageal squamous(42;0.129)	UPI000013D269	684			Cytoplasmic (Potential).		SNV	CDH7,synonymous_variant,p.=,ENST00000397968,NM_004361.2;CDH7,synonymous_variant,p.=,ENST00000323011,NM_033646.1;	uc002ljz.2	c.2052G>A	2377/2728	1	1			c.2052G>A						18	SNP	c.(2050-2052)AGG>AGA	49	49			ovary(2)|pancreas(1)|skin(1)	4	Broad	cadherin 7, type 2 preproprotein			63547824		0.473	ENSG00000081138	3058	g.chr18:63547824G>A	adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							198.26979	KEEP	32	49	-1	140	134	32	49	-1	220.912524	140	134	0.230088	1	0	0	0	0	0	0	1	0	--	--		0	A			CDH7_uc002lkb.2_Silent_p.R684R	249	GBM-32-5222-TP	p.R684R	G	AGACCCGGAGGGATGTGACTC	NM_033646	NP_387450	63547824	Q9ULB5	CADH7_HUMAN	0			12	2377	+	A	A		Esophageal squamous(42;0.129)	Silent	684			Cytoplasmic (Potential).			
CDH7	0	broad.mit.edu	GRCh37	18	63430143	63430143	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01	TCGA-76-4928-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323011.3:c.65C>T	p.Ser22Phe	p.S22F	ENST00000323011	NM_033646.1	22	tCt/tTt	0			1			T	S/F	uc002ljz.2	protein_coding		CCDS11993.1			65/2358									ovary(2)|pancreas(1)|skin(1)	4	c.(64-66)TCT>TTT			hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF91,Cleavage_site_(Signalp):SignalP-noTM	cadherin 7, type 2 preproprotein				ENSP00000319166		12-Feb									COSM3403615,COSM3403616	12-Feb	.		ENST00000323011	Transcript			adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000081138	g.chr18:63430143C>T	1766			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=CADH7_HUMAN&rb=1&re=52&var=S22F	NA	getma.org/?cm=var&var=hg19,18,63430143,C,T&fts=all	S22F	--	--	1																																		CDH7_uc002lka.2_Missense_Mutation_p.S22F|CDH7_uc002lkb.2_Missense_Mutation_p.S22F	1,1			benign(0.01)	p.S22F	NM_033646	NP_387450		tolerated(0.73)	1,1	CADH7_HUMAN	CDH7	HGNC	Q9ULB5	CADH7_HUMAN					2	390	+		Esophageal squamous(42;0.129)	UPI000013D269	22					SNV	CDH7,missense_variant,p.Ser22Phe,ENST00000536984,;CDH7,missense_variant,p.Ser22Phe,ENST00000397968,NM_004361.2;CDH7,missense_variant,p.Ser22Phe,ENST00000323011,NM_033646.1;CDH7,upstream_gene_variant,,ENST00000581601,;	uc002ljz.2	c.65C>T	390/2728	1	1			c.65C>T						18	SNP	c.(64-66)TCT>TTT	16	16			ovary(2)|pancreas(1)|skin(1)	4	Broad	cadherin 7, type 2 preproprotein			63430143		0.433	ENSG00000081138	3058	g.chr18:63430143C>T	adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							10.040515	KEEP	6	5	-1	57	53	6	5	-1	26.610506	57	53	0.103774	1	0	0	0	0	1	0	0	0	--	--		0	T			CDH7_uc002lka.2_Missense_Mutation_p.S22F|CDH7_uc002lkb.2_Missense_Mutation_p.S22F	268	GBM-76-4928-TP	p.S22F	C	CTGTGTTTTTCTGGGATGAGT	NM_033646	NP_387450	63430143	Q9ULB5	CADH7_HUMAN	0			2	390	+	T	T		Esophageal squamous(42;0.129)	Missense_Mutation	22						
CDH8	1006	broad.mit.edu	GRCh37	16	61687974	61687974	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0881-01	TCGA-06-0881-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000577390.1:c.1938G>A	p.Arg646=	p.R646=	ENST00000577390	NM_001796.4	646	cgG/cgA	0			1			T	R	uc002eog.1	protein_coding	YES	CCDS10802.1			1938/2400								p.R646Q(1)	ovary(6)|skin(2)|breast(1)	9	c.(1936-1938)CGG>CGA			Pfam_domain:PF01049,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF85	cadherin 8, type 2 preproprotein				ENSP00000462701		12-Dec									COSM3402402	12-Dec	.		ENST00000577390	Transcript			adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000150394	g.chr16:61687974C>T	1767			LOW								--	--	1																																			1	1			p.R646R	NM_001796	NP_001787			1	CADH8_HUMAN	CDH8	HGNC	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	J3KTG8_HUMAN,J3KT81_HUMAN		12	2190	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	UPI0000126D9F	646			Cytoplasmic (Potential).		SNV	CDH8,synonymous_variant,p.=,ENST00000577390,NM_001796.4;CDH8,synonymous_variant,p.=,ENST00000577730,;CDH8,synonymous_variant,p.=,ENST00000299345,;CDH8,downstream_gene_variant,,ENST00000583483,;CDH8,3_prime_UTR_variant,,ENST00000585315,;	uc002eog.1	c.1938G>A	2893/9721	1	1			c.1938G>A						16	SNP	c.(1936-1938)CGG>CGA	5	5		p.R646Q(1)	ovary(6)|skin(2)|breast(1)	9	Broad	cadherin 8, type 2 preproprotein			61687974		0.388	ENSG00000150394	3059	g.chr16:61687974C>T	adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							-25.35368	KEEP	4	1	-1	86	92	4	1	-1	9.987789	86	92	0.033557	1	0	0	0	0	0	0	1	0	--	--		0	T				76	GBM-06-0881-TP	p.R646R	C	CATTTTTATGCCGCCGTAGAG	NM_001796	NP_001787	61687974	P55286	CADH8_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	12	2190	-	T	T		Ovarian(137;0.0799)|Melanoma(118;0.16)	Silent	646			Cytoplasmic (Potential).			
CDH8	0	broad.mit.edu	GRCh37	16	61689535	61689535	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-6698-01	TCGA-06-6698-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000577390.1:c.1745G>T	p.Gly582Val	p.G582V	ENST00000577390	NM_001796.4	582	gGa/gTa	0			1			A	G/V	uc002eog.1	protein_coding	YES	CCDS10802.1			1745/2400									ovary(6)|skin(2)|breast(1)	9	c.(1744-1746)GGA>GTA			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF85,SMART_domains:SM00112,Superfamily_domains:SSF49313	cadherin 8, type 2 preproprotein				ENSP00000462701		12-Nov									COSM3402403	12-Nov	.		ENST00000577390	Transcript			adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000150394	g.chr16:61689535C>A	1767			MODERATE		4.58	high	getma.org/?cm=msa&ty=f&p=CADH8_HUMAN&rb=500&re=597&var=G582V	getma.org/pdb.php?prot=CADH8_HUMAN&from=500&to=597&var=G582V	getma.org/?cm=var&var=hg19,16,61689535,C,A&fts=all	G582V	--	--	1																																			1	1		probably_damaging(0.99)	p.G582V	NM_001796	NP_001787		deleterious(0)	1	CADH8_HUMAN	CDH8	HGNC	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	J3KTG8_HUMAN,J3KT81_HUMAN		11	1997	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	UPI0000126D9F	582			Extracellular (Potential).|Cadherin 5.		SNV	CDH8,missense_variant,p.Gly582Val,ENST00000577390,NM_001796.4;CDH8,missense_variant,p.Gly582Val,ENST00000577730,;CDH8,missense_variant,p.Gly582Val,ENST00000299345,;CDH8,non_coding_transcript_exon_variant,,ENST00000583483,;CDH8,3_prime_UTR_variant,,ENST00000585315,;	uc002eog.1	c.1745G>T	2700/9721	2	2			c.1745G>T						16	SNP	c.(1744-1746)GGA>GTA	33	33			ovary(6)|skin(2)|breast(1)	9	Broad	cadherin 8, type 2 preproprotein			61689535		0.438	ENSG00000150394	3059	g.chr16:61689535C>A	adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							130.14315	KEEP	13	33	0.717391304	12	4	13	33	0.717391304	134.165086	12	4	0.781818	1	0	0	0	0	1	0	0	0	--	--		0	A				112	GBM-06-6698-TP	p.G582V	C	TGGAGGATTTCCACTATCACT	NM_001796	NP_001787	61689535	P55286	CADH8_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	11	1997	-	A	A		Ovarian(137;0.0799)|Melanoma(118;0.16)	Missense_Mutation	582			Extracellular (Potential).|Cadherin 5.			
CDH8	0	broad.mit.edu	GRCh37	16	61687974	61687974	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0790-01	TCGA-14-0790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000577390.1:c.1938G>A	p.Arg646=	p.R646=	ENST00000577390	NM_001796.4	646	cgG/cgA	0			1			T	R	uc002eog.1	protein_coding	YES	CCDS10802.1			1938/2400								p.R646Q(1)	ovary(6)|skin(2)|breast(1)	9	c.(1936-1938)CGG>CGA			Pfam_domain:PF01049,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF85	cadherin 8, type 2 preproprotein				ENSP00000462701		12-Dec									COSM3402402	12-Dec	.		ENST00000577390	Transcript			adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000150394	g.chr16:61687974C>T	1767			LOW								--	--	1																																			1	1			p.R646R	NM_001796	NP_001787			1	CADH8_HUMAN	CDH8	HGNC	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	J3KTG8_HUMAN,J3KT81_HUMAN		12	2190	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	UPI0000126D9F	646			Cytoplasmic (Potential).		SNV	CDH8,synonymous_variant,p.=,ENST00000577390,NM_001796.4;CDH8,synonymous_variant,p.=,ENST00000577730,;CDH8,synonymous_variant,p.=,ENST00000299345,;CDH8,downstream_gene_variant,,ENST00000583483,;CDH8,3_prime_UTR_variant,,ENST00000585315,;	uc002eog.1	c.1938G>A	2893/9721	1	1			c.1938G>A						16	SNP	c.(1936-1938)CGG>CGA	5	5		p.R646Q(1)	ovary(6)|skin(2)|breast(1)	9	Broad	cadherin 8, type 2 preproprotein			61687974		0.388	ENSG00000150394	3059	g.chr16:61687974C>T	adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							-38.161988	KEEP	3	1	-1	78	116	3	1	-1	6.819669	78	116	0.022599	1	0	0	0	0	0	0	1	0	--	--		0	T				137	GBM-14-0790-TP	p.R646R	C	CATTTTTATGCCGCCGTAGAG	NM_001796	NP_001787	61687974	P55286	CADH8_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	12	2190	-	T	T		Ovarian(137;0.0799)|Melanoma(118;0.16)	Silent	646			Cytoplasmic (Potential).			
CDH8	0	broad.mit.edu	GRCh37	16	61687800	61687800	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-4213-01	TCGA-32-4213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000577390.1:c.2112G>T	p.Leu704Phe	p.L704F	ENST00000577390	NM_001796.4	704	ttG/ttT	0			1			A	L/F	uc002eog.1	protein_coding	YES	CCDS10802.1			2112/2400									ovary(6)|skin(2)|breast(1)	9	c.(2110-2112)TTG>TTT			Pfam_domain:PF01049,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF85	cadherin 8, type 2 preproprotein				ENSP00000462701		12-Dec	8.24E-06					1.50E-05			rs750596827,COSM3402401	12-Dec	.		ENST00000577390	Transcript			adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000150394	g.chr16:61687800C>A	1767			MODERATE		1.28	low	getma.org/?cm=msa&ty=f&p=CADH8_HUMAN&rb=645&re=793&var=L704F	getma.org/pdb.php?prot=CADH8_HUMAN&from=645&to=793&var=L704F	getma.org/?cm=var&var=hg19,16,61687800,C,A&fts=all	L704F	--	--	1																																			0,1	1		benign(0.046)	p.L704F	NM_001796	NP_001787		tolerated(0.28)	0,1	CADH8_HUMAN	CDH8	HGNC	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	J3KTG8_HUMAN,J3KT81_HUMAN		12	2364	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	UPI0000126D9F	704			Cytoplasmic (Potential).		SNV	CDH8,missense_variant,p.Leu704Phe,ENST00000577390,NM_001796.4;CDH8,missense_variant,p.Leu704Phe,ENST00000299345,;CDH8,intron_variant,,ENST00000577730,;CDH8,downstream_gene_variant,,ENST00000583483,;CDH8,3_prime_UTR_variant,,ENST00000585315,;	uc002eog.1	c.2112G>T	3067/9721	2	2			c.2112G>T						16	SNP	c.(2110-2112)TTG>TTT	47	47			ovary(6)|skin(2)|breast(1)	9	Broad	cadherin 8, type 2 preproprotein			61687800		0.428	ENSG00000150394	3059	g.chr16:61687800C>A	adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							-53.891161	KEEP	8	3	0.272727273	145	168	8	3	0.272727273	16.850781	145	168	0.030717	1	0	0	0	0	1	0	0	0	--	--		0	A				247	GBM-32-4213-TP	p.L704F	C	GCATAAACTGCAAATCTGGTT	NM_001796	NP_001787	61687800	P55286	CADH8_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	12	2364	-	A	A		Ovarian(137;0.0799)|Melanoma(118;0.16)	Missense_Mutation	704			Cytoplasmic (Potential).			
CDH9	1007	broad.mit.edu	GRCh37	5	26902711	26902711	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0173-01	TCGA-06-0173-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000231021.4:c.1127A>T	p.Asp376Val	p.D376V	ENST00000231021	NM_016279.3	376	gAt/gTt	0			1			A	D/V	uc003jgs.1	protein_coding	YES	CCDS3893.1			1127/2370									ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9	c.(1126-1128)GAT>GTT			Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF99,PROSITE_profiles:PS50268	cadherin 9, type 2 preproprotein				ENSP00000231021		12-Jul									COSM3410226	12-Jul	.		ENST00000231021	Transcript			adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000113100	g.chr5:26902711T>A	1768			MODERATE		4.38	high	getma.org/?cm=msa&ty=f&p=CADH9_HUMAN&rb=269&re=383&var=D376V	getma.org/pdb.php?prot=CADH9_HUMAN&from=269&to=383&var=D376V	getma.org/?cm=var&var=hg19,5,26902711,T,A&fts=all	D376V	--	--	1																																			1	1		probably_damaging(0.996)	p.D376V	NM_016279	NP_057363		deleterious(0)	1	CADH9_HUMAN	CDH9	HGNC	Q9ULB4	CADH9_HUMAN			E7EPN0_HUMAN,D6RBT9_HUMAN		7	1296	-			UPI000013C945	376			Cadherin 3.|Extracellular (Potential).		SNV	CDH9,missense_variant,p.Asp376Val,ENST00000231021,NM_016279.3;CDH9,downstream_gene_variant,,ENST00000505045,;	uc003jgs.1	c.1127A>T	1300/3079	2	2			c.1127A>T						5	SNP	c.(1126-1128)GAT>GTT	45	45			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9	Broad	cadherin 9, type 2 preproprotein			26902711		0.408	ENSG00000113100	3060	g.chr5:26902711T>A	adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	Melanoma(8;187 585 15745 40864 52829)			Melanoma(8;187 585 15745 40864 52829)			28.223624	KEEP	13	15	-1	85	93	13	15	-1	52.169779	85	93	0.125714	1	0	0	0	0	1	0	0	0	--	--		0	A				36	GBM-06-0173-TP	p.D376V	T	CTCATCTATATCTTCCACAGA	NM_016279	NP_057363	26902711	Q9ULB4	CADH9_HUMAN	0			7	1296	-	A	A			Missense_Mutation	376			Cadherin 3.|Extracellular (Potential).			
CDH9	1007	broad.mit.edu	GRCh37	5	26906907	26906907	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000231021.4:c.564C>T	p.Asp188=	p.D188=	ENST00000231021	NM_016279.3	188	gaC/gaT	0			1			A	D	uc003jgs.1	protein_coding	YES	CCDS3893.1			564/2370									ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9	c.(562-564)GAC>GAT			Prints_domain:PR00205,Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF99,PROSITE_profiles:PS50268	cadherin 9, type 2 preproprotein				ENSP00000231021		12-Apr	8.24E-06							6.06E-05	rs766465003,COSM1636932	12-Apr	.		ENST00000231021	Transcript			adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000113100	g.chr5:26906907G>A	1768			LOW								--	--	1																																		CDH9_uc010iug.2_Silent_p.D188D	0,1	1			p.D188D	NM_016279	NP_057363			0,1	CADH9_HUMAN	CDH9	HGNC	Q9ULB4	CADH9_HUMAN			E7EPN0_HUMAN,D6RBT9_HUMAN		4	733	-			UPI000013C945	188			Extracellular (Potential).|Cadherin 2.		SNV	CDH9,synonymous_variant,p.=,ENST00000231021,NM_016279.3;CDH9,non_coding_transcript_exon_variant,,ENST00000505045,;	uc003jgs.1	c.564C>T	737/3079	1	1			c.564C>T						5	SNP	c.(562-564)GAC>GAT	49	49			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9	Broad	cadherin 9, type 2 preproprotein			26906907		0.403	ENSG00000113100	3060	g.chr5:26906907G>A	adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	Melanoma(8;187 585 15745 40864 52829)			Melanoma(8;187 585 15745 40864 52829)			59.926002	KEEP	13	11	-1	25	27	13	11	-1	61.938327	25	27	0.318841	1	0	0	0	0	0	0	1	0	--	--		0	A			CDH9_uc010iug.2_Silent_p.D188D	58	GBM-06-0644-TP	p.D188D	G	CATAGTTGGCGTCATCTGCAT	NM_016279	NP_057363	26906907	Q9ULB4	CADH9_HUMAN	0			4	733	-	A	A			Silent	188			Extracellular (Potential).|Cadherin 2.			
CDH9	1007	broad.mit.edu	GRCh37	5	26885950	26885950	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs150128137		TCGA-06-1804-01	TCGA-06-1804-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000231021.4:c.1655G>A	p.Arg552Gln	p.R552Q	ENST00000231021	NM_016279.3	552	cGg/cAg	0	T:0.0002	T:0	1	T:0		T	R/Q	uc003jgs.1	protein_coding	YES	CCDS3893.1			1655/2370									ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9	c.(1654-1656)CGG>CAG			Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF99,PROSITE_profiles:PS50268	cadherin 9, type 2 preproprotein		T:0	T:0	ENSP00000231021	T:0.001	12-Nov	8.24E-06	9.79E-05							rs150128137,COSM236708	12-Nov	.		ENST00000231021	Transcript		T:0.0002	adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000113100	g.chr5:26885950C>T	1768			MODERATE		2.225	medium	getma.org/?cm=msa&ty=f&p=CADH9_HUMAN&rb=492&re=589&var=R552Q	NA	getma.org/?cm=var&var=hg19,5,26885950,C,T&fts=all	R552Q	--	--	1																																		CDH9_uc011cnv.1_Missense_Mutation_p.R145Q	0,1	1		benign(0.007)	p.R552Q	NM_016279	NP_057363	T:0	tolerated(0.2)	0,1	CADH9_HUMAN	CDH9	HGNC	Q9ULB4	CADH9_HUMAN			E7EPN0_HUMAN,D6RBT9_HUMAN		11	1824	-			UPI000013C945	552			Extracellular (Potential).|Cadherin 5.		SNV	CDH9,missense_variant,p.Arg552Gln,ENST00000231021,NM_016279.3;CDH9,non_coding_transcript_exon_variant,,ENST00000505020,;	uc003jgs.1	c.1655G>A	1828/3079	2	2			c.1655G>A						5	SNP	c.(1654-1656)CGG>CAG	48	48			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9	Broad	cadherin 9, type 2 preproprotein			26885950		0.343	ENSG00000113100	3060	g.chr5:26885950C>T	adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	Melanoma(8;187 585 15745 40864 52829)			Melanoma(8;187 585 15745 40864 52829)			44.645547	KEEP	10	8	-1	18	10	10	8	-1	45.325791	18	10	0.358974	1	0	0	0	0	1	0	0	0	--	--		0	T			CDH9_uc011cnv.1_Missense_Mutation_p.R145Q	79	GBM-06-1804-TP	p.R552Q	C	GCCATCTTTCCGAGTCATGAT	NM_016279	NP_057363	26885950	Q9ULB4	CADH9_HUMAN	0			11	1824	-	T	T			Missense_Mutation	552			Extracellular (Potential).|Cadherin 5.			
CDH9	0	broad.mit.edu	GRCh37	5	26881547	26881547	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-3653-01	TCGA-12-3653-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000231021.4:c.2068C>T	p.Arg690Trp	p.R690W	ENST00000231021	NM_016279.3	690	Cgg/Tgg	0			1			A	R/W	uc003jgs.1	protein_coding	YES	CCDS3893.1			2068/2370									ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9	c.(2068-2070)CGG>TGG			Pfam_domain:PF01049,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF99	cadherin 9, type 2 preproprotein				ENSP00000231021		12-Dec	8.24E-06		8.70E-05						rs751593635,COSM1067159	12-Dec	.		ENST00000231021	Transcript			adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000113100	g.chr5:26881547G>A	1768			MODERATE		3.4	medium	getma.org/?cm=msa&ty=f&p=CADH9_HUMAN&rb=637&re=784&var=R690W	getma.org/pdb.php?prot=CADH9_HUMAN&from=637&to=784&var=R690W	getma.org/?cm=var&var=hg19,5,26881547,G,A&fts=all	R690W	--	--	1																																		CDH9_uc011cnv.1_Missense_Mutation_p.R283W	0,1	1		probably_damaging(0.998)	p.R690W	NM_016279	NP_057363		deleterious(0)	0,1	CADH9_HUMAN	CDH9	HGNC	Q9ULB4	CADH9_HUMAN			E7EPN0_HUMAN,D6RBT9_HUMAN		12	2237	-			UPI000013C945	690			Cytoplasmic (Potential).		SNV	CDH9,missense_variant,p.Arg690Trp,ENST00000231021,NM_016279.3;CDH9,non_coding_transcript_exon_variant,,ENST00000505020,;	uc003jgs.1	c.2068C>T	2241/3079	2	2			c.2068C>T						5	SNP	c.(2068-2070)CGG>TGG	45	45			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9	Broad	cadherin 9, type 2 preproprotein			26881547		0.408	ENSG00000113100	3060	g.chr5:26881547G>A	adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	Melanoma(8;187 585 15745 40864 52829)			Melanoma(8;187 585 15745 40864 52829)			400.269945	KEEP	64	69	-1	75	38	64	69	-1	400.530145	75	38	0.535865	1	0	0	0	0	1	0	0	0	--	--		0	A			CDH9_uc011cnv.1_Missense_Mutation_p.R283W	128	GBM-12-3653-TP	p.R690W	G	ATTACATCCCGTCTAAGTTTA	NM_016279	NP_057363	26881547	Q9ULB4	CADH9_HUMAN	0			12	2237	-	A	A			Missense_Mutation	690			Cytoplasmic (Potential).			
CDH9	0	broad.mit.edu	GRCh37	5	26881626	26881626	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000231021.4:c.1989C>T	p.Gly663=	p.G663=	ENST00000231021	NM_016279.3	663	ggC/ggT	0		A:0	1	A:0		A	G	uc003jgs.1	protein_coding	YES	CCDS3893.1			1989/2370									ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9	c.(1987-1989)GGC>GGT			Pfam_domain:PF01049,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF99	cadherin 9, type 2 preproprotein		A:0.001		ENSP00000231021	A:0	12-Dec	8.24E-06			0.000116					rs202002897,COSM3410223	12-Dec	.		ENST00000231021	Transcript		A:0.0002	adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000113100	g.chr5:26881626G>A	1768			LOW								--	--	1																																		CDH9_uc011cnv.1_Silent_p.G256G	0,1	1			p.G663G	NM_016279	NP_057363	A:0		0,1	CADH9_HUMAN	CDH9	HGNC	Q9ULB4	CADH9_HUMAN			E7EPN0_HUMAN,D6RBT9_HUMAN		12	2158	-			UPI000013C945	663			Cytoplasmic (Potential).		SNV	CDH9,synonymous_variant,p.=,ENST00000231021,NM_016279.3;CDH9,non_coding_transcript_exon_variant,,ENST00000505020,;	uc003jgs.1	c.1989C>T	2162/3079	1	1			c.1989C>T						5	SNP	c.(1987-1989)GGC>GGT	57	57			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9	Broad	cadherin 9, type 2 preproprotein			26881626		0.438	ENSG00000113100	3060	g.chr5:26881626G>A	adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	Melanoma(8;187 585 15745 40864 52829)			Melanoma(8;187 585 15745 40864 52829)			176.805859	KEEP	29	44	-1	45	54	29	44	-1	177.706162	45	54	0.417219	1	0	0	0	0	0	0	1	0	--	--		0	A			CDH9_uc011cnv.1_Silent_p.G256G	177	GBM-19-5959-TP	p.G663G	G	CTTCCCCGCCGCCTTCATCGT	NM_016279	NP_057363	26881626	Q9ULB4	CADH9_HUMAN	0			12	2158	-	A	A			Silent	663			Cytoplasmic (Potential).			
CDH9	0	broad.mit.edu	GRCh37	5	26902807	26902807	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-28-2499-01	TCGA-28-2499-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000231021.4:c.1031C>A	p.Thr344Asn	p.T344N	ENST00000231021	NM_016279.3	344	aCt/aAt	0			1			T	T/N	uc003jgs.1	protein_coding	YES	CCDS3893.1			1031/2370									ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9	c.(1030-1032)ACT>AAT			Prints_domain:PR00205,Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF99,PROSITE_profiles:PS50268	cadherin 9, type 2 preproprotein				ENSP00000231021		12-Jul									COSM3410228	12-Jul	.		ENST00000231021	Transcript			adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000113100	g.chr5:26902807G>T	1768			MODERATE		1.815	low	getma.org/?cm=msa&ty=f&p=CADH9_HUMAN&rb=273&re=375&var=T344N	getma.org/pdb.php?prot=CADH9_HUMAN&from=273&to=375&var=T344N	getma.org/?cm=var&var=hg19,5,26902807,G,T&fts=all	T344N	--	--	1																																			1	1		benign(0.001)	p.T344N	NM_016279	NP_057363		tolerated(0.07)	1	CADH9_HUMAN	CDH9	HGNC	Q9ULB4	CADH9_HUMAN			E7EPN0_HUMAN,D6RBT9_HUMAN		7	1200	-			UPI000013C945	344			Cadherin 3.|Extracellular (Potential).		SNV	CDH9,missense_variant,p.Thr344Asn,ENST00000231021,NM_016279.3;CDH9,downstream_gene_variant,,ENST00000505045,;	uc003jgs.1	c.1031C>A	1204/3079	2	2			c.1031C>A						5	SNP	c.(1030-1032)ACT>AAT	21	21			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9	Broad	cadherin 9, type 2 preproprotein			26902807		0.328	ENSG00000113100	3060	g.chr5:26902807G>T	adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	Melanoma(8;187 585 15745 40864 52829)			Melanoma(8;187 585 15745 40864 52829)			97.870029	KEEP	22	10	0.6875	17	18	22	10	0.6875	97.956372	17	18	0.460317	1	0	0	0	0	1	0	0	0	--	--		0	T				208	GBM-28-2499-TP	p.T344N	G	CACTCTTAAAGTATAGAGCAT	NM_016279	NP_057363	26902807	Q9ULB4	CADH9_HUMAN	0			7	1200	-	T	T			Missense_Mutation	344			Cadherin 3.|Extracellular (Potential).			
CDH9	0	broad.mit.edu	GRCh37	5	26988213	26988213	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G			TCGA-28-5214-01	TCGA-28-5214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000231021.4:c.228G>C	p.Lys76Asn	p.K76N	ENST00000231021	NM_016279.3	76	aaG/aaC	0			1			G	K/N	uc003jgs.1	protein_coding	YES	CCDS3893.1			228/2370									ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9	c.(226-228)AAG>AAC			Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF99	cadherin 9, type 2 preproprotein				ENSP00000231021		12-Feb									COSM3410229	12-Feb	.		ENST00000231021	Transcript			adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000113100	g.chr5:26988213C>G	1768			MODERATE		3.225	medium	getma.org/?cm=msa&ty=f&p=CADH9_HUMAN&rb=59&re=150&var=K76N	getma.org/pdb.php?prot=CADH9_HUMAN&from=59&to=150&var=K76N	getma.org/?cm=var&var=hg19,5,26988213,C,G&fts=all	K76N	--	--	1																																		CDH9_uc010iug.2_Missense_Mutation_p.K76N	1	1		probably_damaging(0.998)	p.K76N	NM_016279	NP_057363		deleterious(0.02)	1	CADH9_HUMAN	CDH9	HGNC	Q9ULB4	CADH9_HUMAN			E7EPN0_HUMAN,D6RBT9_HUMAN		2	397	-			UPI000013C945	76			Extracellular (Potential).|Cadherin 1.		SNV	CDH9,missense_variant,p.Lys76Asn,ENST00000231021,NM_016279.3;CDH9,missense_variant,p.Lys76Asn,ENST00000513289,;CDH9,missense_variant,p.Lys76Asn,ENST00000511822,;CDH9,splice_region_variant,,ENST00000505045,;	uc003jgs.1	c.228G>C	401/3079	3	3			c.228G>C						5	SNP	c.(226-228)AAG>AAC	54	54			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9	Broad	cadherin 9, type 2 preproprotein			26988213		0.348	ENSG00000113100	3060	g.chr5:26988213C>G	adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	Melanoma(8;187 585 15745 40864 52829)			Melanoma(8;187 585 15745 40864 52829)			34.722771	KEEP	7	7	-1	16	21	7	7	-1	37.062254	16	21	0.27451	1	0	0	0	0	1	0	0	0	--	--		0	G			CDH9_uc010iug.2_Missense_Mutation_p.K76N	221	GBM-28-5214-TP	p.K76N	C	AAATTCTTACCTTGCCTACAT	NM_016279	NP_057363	26988213	Q9ULB4	CADH9_HUMAN	0			2	397	-	G	G			Missense_Mutation	76			Extracellular (Potential).|Cadherin 1.			
CDHR1	92211	broad.mit.edu	GRCh37	10	85962739	85962739	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-5856-01	TCGA-06-5856-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372117.3:c.643G>T	p.Gly215Cys	p.G215C	ENST00000372117	NM_033100.3	215	Ggc/Tgc	0			1			T	G/C	uc001kcv.2	protein_coding	YES	CCDS7372.1			643/2580									ovary(1)	1	c.(643-645)GGC>TGC			Prints_domain:PR00205,Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF2,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	protocadherin 21 precursor				ENSP00000361189		17-Aug									COSM3397270,COSM3397271	17-Aug	.		ENST00000372117	Transcript	1		homophilic cell adhesion		calcium ion binding|receptor activity	ENSG00000148600	g.chr10:85962739G>T	14550			MODERATE		2.71	medium	getma.org/?cm=msa&ty=f&p=CDHR1_HUMAN&rb=140&re=237&var=G215C	getma.org/pdb.php?prot=CDHR1_HUMAN&from=140&to=237&var=G215C	getma.org/?cm=var&var=hg19,10,85962739,G,T&fts=all	G215C	--	--	1																																		CDHR1_uc001kcw.2_Missense_Mutation_p.G215C|CDHR1_uc009xst.2_5'UTR	1,1	1		probably_damaging(1)	p.G215C	NM_033100	NP_149091		deleterious(0)	1,1	CDHR1_HUMAN	CDHR1	HGNC	Q96JP9	CDHR1_HUMAN			F1T0L2_HUMAN		8	643	+			UPI0000161C2F	215			Cadherin 2.|Extracellular (Potential).		SNV	CDHR1,missense_variant,p.Gly215Cys,ENST00000372117,NM_033100.3;CDHR1,missense_variant,p.Gly215Cys,ENST00000332904,NM_001171971.2;CDHR1,5_prime_UTR_variant,,ENST00000440770,;	uc001kcv.2	c.643G>T	746/5428	1	1			c.643G>T						10	SNP	c.(643-645)GGC>TGC	7	7			ovary(1)	1	Broad	protocadherin 21 precursor			85962739		0.393	ENSG00000148600	3061	g.chr10:85962739G>T	homophilic cell adhesion		calcium ion binding|receptor activity							17.710349	KEEP	4	3	0.571428571	14	12	4	3	0.571428571	19.6625	14	12	0.233333	1	0	0	0	0	1	0	0	0	--	--		0	T			CDHR1_uc001kcw.2_Missense_Mutation_p.G215C|CDHR1_uc009xst.2_5'UTR	101	GBM-06-5856-TP	p.G215C	G	TCTGCAGGATGGCGGTGGGAG	NM_033100	NP_149091	85962739	Q96JP9	CDHR1_HUMAN	0			8	643	+	T	T			Missense_Mutation	215			Cadherin 2.|Extracellular (Potential).			
CDHR1	0	broad.mit.edu	GRCh37	10	85972090	85972090	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-26-1442-01	TCGA-26-1442-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372117.3:c.1709A>G	p.Asn570Ser	p.N570S	ENST00000372117	NM_033100.3	570	aAt/aGt	0			1			G	N/S	uc001kcv.2	protein_coding	YES	CCDS7372.1			1709/2580									ovary(1)	1	c.(1708-1710)AAT>AGT			Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,PROSITE_patterns:PS00232,hmmpanther:PTHR24027:SF2,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	protocadherin 21 precursor				ENSP00000361189		15/17									COSM3397272,COSM3397273	15/17	.		ENST00000372117	Transcript	1		homophilic cell adhesion		calcium ion binding|receptor activity	ENSG00000148600	g.chr10:85972090A>G	14550			MODERATE		3.8	high	getma.org/?cm=msa&ty=f&p=CDHR1_HUMAN&rb=473&re=576&var=N570S	getma.org/pdb.php?prot=CDHR1_HUMAN&from=473&to=576&var=N570S	getma.org/?cm=var&var=hg19,10,85972090,A,G&fts=all	N570S	--	--	1																																		CDHR1_uc001kcw.2_Missense_Mutation_p.N570S|CDHR1_uc009xst.2_Missense_Mutation_p.N274S|CDHR1_uc001kcx.2_5'Flank	1,1	1		probably_damaging(0.968)	p.N570S	NM_033100	NP_149091		deleterious(0.01)	1,1	CDHR1_HUMAN	CDHR1	HGNC	Q96JP9	CDHR1_HUMAN			F1T0L2_HUMAN		15	1709	+			UPI0000161C2F	570			Cadherin 5.|Extracellular (Potential).		SNV	CDHR1,missense_variant,p.Asn570Ser,ENST00000372117,NM_033100.3;CDHR1,missense_variant,p.Asn274Ser,ENST00000440770,;CDHR1,missense_variant,p.Asn570Ser,ENST00000332904,NM_001171971.2;CDHR1,upstream_gene_variant,,ENST00000459673,;	uc001kcv.2	c.1709A>G	1812/5428	4	4			c.1709A>G						10	SNP	c.(1708-1710)AAT>AGT	30	30			ovary(1)	1	Broad	protocadherin 21 precursor			85972090		0.522	ENSG00000148600	3061	g.chr10:85972090A>G	homophilic cell adhesion		calcium ion binding|receptor activity							20.746632	KEEP	9	9	-1	54	69	9	9	-1	38.445379	54	69	0.12	1	0	0	0	0	1	0	0	0	--	--		0	G			CDHR1_uc001kcw.2_Missense_Mutation_p.N570S|CDHR1_uc009xst.2_Missense_Mutation_p.N274S|CDHR1_uc001kcx.2_5'Flank	180	GBM-26-1442-TP	p.N570S	A	CTGGATGTCAATGACCACCCC	NM_033100	NP_149091	85972090	Q96JP9	CDHR1_HUMAN	0			15	1709	+	G	G			Missense_Mutation	570			Cadherin 5.|Extracellular (Potential).			
CDHR2	54825		GRCh37	5	176004494	176004494	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000510636.1:c.1289A>G	p.Gln430Arg	p.Q430R	ENST00000510636	NM_001171976.1	430	cAg/cGg	0																																																																																																																																																																																																																																												
CDHR3	222256	broad.mit.edu	GRCh37	7	105660972	105660972	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs144905888	by1000genomes	TCGA-02-2470-01	TCGA-02-2470-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317716.9:c.1807C>T	p.Arg603Cys	p.R603C	ENST00000317716	NM_152750.4	603	Cgt/Tgt	0	T:0.0005	T:0.0008	1	T:0		T	R/C	uc003vdl.3	protein_coding	YES	CCDS47684.1			1807/2658									ovary(1)	1	c.(1807-1809)CGT>TGT			Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF289,Superfamily_domains:SSF49313	hypothetical protein LOC222256 precursor		T:0	T:0.0038	ENSP00000325954	T:0.001	13/19	0.00276	0.000919	0.00112	0.000116	0.00181	0.00415	0.00338	0.0012	rs144905888,COSM1083754,COSM1083755,COSM3748350	13/19	common_variant		ENST00000317716	Transcript		T:0.0004	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000128536	g.chr7:105660972C>T	26308			MODERATE		2.32	medium	getma.org/?cm=msa&ty=f&p=CDHR3_HUMAN&rb=567&re=695&var=R603C	NA	getma.org/?cm=var&var=hg19,7,105660972,C,T&fts=all	R603C	--	--	1																																		CDHR3_uc003vdk.2_Intron|CDHR3_uc003vdm.3_Missense_Mutation_p.R590C|CDHR3_uc011klt.1_Missense_Mutation_p.R515C|CDHR3_uc003vdn.2_Intron	0,1,1,1	1		probably_damaging(0.961)	p.R603C	NM_152750	NP_689963	T:0	deleterious(0)	0,1,1,1	CDHR3_HUMAN	CDHR3	HGNC	Q6ZTQ4	CDHR3_HUMAN			E7EQG5_HUMAN		13	1915	+			UPI00001C0C6E	603			Cadherin 6.|Extracellular (Potential).		SNV	CDHR3,missense_variant,p.Arg603Cys,ENST00000542731,;CDHR3,missense_variant,p.Arg603Cys,ENST00000317716,NM_152750.4;CDHR3,missense_variant,p.Arg515Cys,ENST00000478080,;CDHR3,missense_variant,p.Arg72Cys,ENST00000468477,;CDHR3,intron_variant,,ENST00000343407,;CDHR3,intron_variant,,ENST00000466045,;CDHR3,intron_variant,,ENST00000470188,;	uc003vdl.3	c.1807C>T	1887/3813	2	2			c.1807C>T						7	SNP	c.(1807-1809)CGT>TGT	25	25			ovary(1)	1	Broad	hypothetical protein LOC222256 precursor			105660972		0.498	ENSG00000128536	3063	g.chr7:105660972C>T	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							106.259199	KEEP	19	33	-1	113	118	19	33	-1	128.419467	113	118	0.184874	1	0	0	0	0	1	0	0	0	--	--		0	T			CDHR3_uc003vdk.2_Intron|CDHR3_uc003vdm.3_Missense_Mutation_p.R590C|CDHR3_uc011klt.1_Missense_Mutation_p.R515C|CDHR3_uc003vdn.2_Intron	5	GBM-02-2470-TP	p.R603C	C	CAGATCTTTCCGTTATTCCAT	NM_152750	NP_689963	105660972	Q6ZTQ4	CDHR3_HUMAN	0			13	1915	+	T	T			Missense_Mutation	603			Cadherin 6.|Extracellular (Potential).			
CDHR3	222256	broad.mit.edu	GRCh37	7	105660961	105660961	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5412-01	TCGA-06-5412-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317716.9:c.1796C>T	p.Pro599Leu	p.P599L	ENST00000317716	NM_152750.4	599	cCc/cTc	0			1			T	P/L	uc003vdl.3	protein_coding	YES	CCDS47684.1			1796/2658									ovary(1)	1	c.(1795-1797)CCC>CTC			Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF289,Superfamily_domains:SSF49313	hypothetical protein LOC222256 precursor				ENSP00000325954		13/19									COSM3411448,COSM3411449,COSM3411450	13/19	.		ENST00000317716	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000128536	g.chr7:105660961C>T	26308			MODERATE		2.14	medium	getma.org/?cm=msa&ty=f&p=CDHR3_HUMAN&rb=567&re=695&var=P599L	NA	getma.org/?cm=var&var=hg19,7,105660961,C,T&fts=all	P599L	--	--	1																																		CDHR3_uc003vdk.2_Intron|CDHR3_uc003vdm.3_Missense_Mutation_p.P586L|CDHR3_uc011klt.1_Missense_Mutation_p.P511L|CDHR3_uc003vdn.2_Intron	1,1,1	1		probably_damaging(1)	p.P599L	NM_152750	NP_689963		deleterious(0)	1,1,1	CDHR3_HUMAN	CDHR3	HGNC	Q6ZTQ4	CDHR3_HUMAN			E7EQG5_HUMAN		13	1904	+			UPI00001C0C6E	599			Cadherin 6.|Extracellular (Potential).		SNV	CDHR3,missense_variant,p.Pro599Leu,ENST00000542731,;CDHR3,missense_variant,p.Pro599Leu,ENST00000317716,NM_152750.4;CDHR3,missense_variant,p.Pro511Leu,ENST00000478080,;CDHR3,missense_variant,p.Pro68Leu,ENST00000468477,;CDHR3,intron_variant,,ENST00000343407,;CDHR3,intron_variant,,ENST00000466045,;CDHR3,intron_variant,,ENST00000470188,;	uc003vdl.3	c.1796C>T	1876/3813	1	1			c.1796C>T						7	SNP	c.(1795-1797)CCC>CTC	1	1			ovary(1)	1	Broad	hypothetical protein LOC222256 precursor			105660961		0.488	ENSG00000128536	3063	g.chr7:105660961C>T	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							12.197536	KEEP	9	4	-1	61	77	9	4	-1	32.195991	61	77	0.102362	1	0	0	0	0	1	0	0	0	--	--		0	T			CDHR3_uc003vdk.2_Intron|CDHR3_uc003vdm.3_Missense_Mutation_p.P586L|CDHR3_uc011klt.1_Missense_Mutation_p.P511L|CDHR3_uc003vdn.2_Intron	95	GBM-06-5412-TP	p.P599L	C	GATTCCAGCCCCAGATCTTTC	NM_152750	NP_689963	105660961	Q6ZTQ4	CDHR3_HUMAN	0			13	1904	+	T	T			Missense_Mutation	599			Cadherin 6.|Extracellular (Potential).			
CDHR3	0	broad.mit.edu	GRCh37	7	105660912	105660912	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-12-0821-01	TCGA-12-0821-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317716.9:c.1747delA	p.Thr583GlnfsTer8	p.T583Qfs*8	ENST00000317716	NM_152750.4	583	Aca/ca	0			1			-	T/X	uc003vdl.3	protein_coding	YES	CCDS47684.1			1747/2658									ovary(1)	1	c.(1747-1749)ACAfs			Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF289,Superfamily_domains:SSF49313	hypothetical protein LOC222256 precursor				ENSP00000325954		13/19										13/19	.		ENST00000317716	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000128536	g.chr7:105660912delA	26308			HIGH								--	--	1																																		CDHR3_uc003vdk.2_Intron|CDHR3_uc003vdm.3_Frame_Shift_Del_p.T570fs|CDHR3_uc011klt.1_Frame_Shift_Del_p.T495fs|CDHR3_uc003vdn.2_Intron		1			p.T583fs	NM_152750	NP_689963				CDHR3_HUMAN	CDHR3	HGNC	Q6ZTQ4	CDHR3_HUMAN			E7EQG5_HUMAN		13	1855	+			UPI00001C0C6E	583			Cadherin 6.|Extracellular (Potential).		deletion	CDHR3,frameshift_variant,p.Thr583GlnfsTer8,ENST00000542731,;CDHR3,frameshift_variant,p.Thr583GlnfsTer8,ENST00000317716,NM_152750.4;CDHR3,frameshift_variant,p.Thr495GlnfsTer8,ENST00000478080,;CDHR3,frameshift_variant,p.Thr52GlnfsTer8,ENST00000468477,;CDHR3,intron_variant,,ENST00000343407,;CDHR3,intron_variant,,ENST00000466045,;CDHR3,intron_variant,,ENST00000470188,;	uc003vdl.3	c.1747delA	1827/3813	5	5			c.1747delA						7	DEL	c.(1747-1749)ACAfs	33	33			ovary(1)	1	Broad	hypothetical protein LOC222256 precursor			105660912		0.428	ENSG00000128536	3063	g.chr7:105660912delA	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding																				0.03	1	1	0	1	0	0	0	0	0	--	--		0	-			CDHR3_uc003vdk.2_Intron|CDHR3_uc003vdm.3_Frame_Shift_Del_p.T570fs|CDHR3_uc011klt.1_Frame_Shift_Del_p.T495fs|CDHR3_uc003vdn.2_Intron	123	GBM-12-0821-TP	p.T583fs	A	GAAAGTTGGCACAAATATTCA	NM_152750	NP_689963	105660912	Q6ZTQ4	CDHR3_HUMAN	0			13	1855	+	-	-			Frame_Shift_Del	583			Cadherin 6.|Extracellular (Potential).			
CDHR5	0	broad.mit.edu	GRCh37	11	618758	618758	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-2625-01	TCGA-19-2625-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358353.3:c.1801A>G	p.Thr601Ala	p.T601A	ENST00000358353		601	Aca/Gca	0			1			C	T/A	uc001lqj.2	protein_coding	YES	CCDS7707.1			1801/2538										0	c.(1801-1803)ACA>GCA				mucin and cadherin-like isoform 1				ENSP00000351118		14/16									COSM3397978	14/16	.		ENST00000358353	Transcript			calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000099834	g.chr11:618758T>C	7521			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=CDHR5_HUMAN&rb=511&re=652&var=T601A	NA	getma.org/?cm=var&var=hg19,11,618758,T,C&fts=all	T601A	--	--	1																																		IRF7_uc001lqh.2_5'Flank|IRF7_uc001lqi.2_5'Flank|IRF7_uc010qwh.1_5'Flank|CDHR5_uc001lqk.2_Intron|CDHR5_uc009ycc.2_Missense_Mutation_p.T435A|CDHR5_uc009ycd.2_Missense_Mutation_p.T595A|CDHR5_uc001lql.2_Missense_Mutation_p.T601A	1	1		possibly_damaging(0.53)	p.T601A	NM_021924	NP_068743		tolerated(0.13)	1	CDHR5_HUMAN	CDHR5	HGNC	Q9HBB8	CDHR5_HUMAN					13	1906	-			UPI0000456444	601			4 X 31 AA approximate tandem repeats.|2.|Extracellular (Potential).		SNV	CDHR5,missense_variant,p.Thr601Ala,ENST00000358353,;CDHR5,missense_variant,p.Thr601Ala,ENST00000397542,NM_021924.4,NM_001171968.1;CDHR5,intron_variant,,ENST00000349570,NM_031264.3;IRF7,upstream_gene_variant,,ENST00000397566,NM_004031.2;IRF7,upstream_gene_variant,,ENST00000330243,;IRF7,upstream_gene_variant,,ENST00000397574,NM_001572.3;IRF7,upstream_gene_variant,,ENST00000397570,NM_004029.2;IRF7,upstream_gene_variant,,ENST00000348655,;IRF7,upstream_gene_variant,,ENST00000397562,;IRF7,upstream_gene_variant,,ENST00000525445,;CDHR5,downstream_gene_variant,,ENST00000526077,;CDHR5,downstream_gene_variant,,ENST00000534311,;CDHR5,downstream_gene_variant,,ENST00000531088,;CDHR5,downstream_gene_variant,,ENST00000532949,;CDHR5,3_prime_UTR_variant,,ENST00000531177,;IRF7,upstream_gene_variant,,ENST00000533182,;IRF7,upstream_gene_variant,,ENST00000469048,;IRF7,upstream_gene_variant,,ENST00000532326,;CDHR5,downstream_gene_variant,,ENST00000531899,;IRF7,upstream_gene_variant,,ENST00000532096,;IRF7,upstream_gene_variant,,ENST00000532788,;IRF7,upstream_gene_variant,,ENST00000533190,;IRF7,upstream_gene_variant,,ENST00000528413,;IRF7,upstream_gene_variant,,ENST00000525750,;IRF7,upstream_gene_variant,,ENST00000527160,;	uc001lqj.2	c.1801A>G	2124/3635	3	3			c.1801A>G						11	SNP	c.(1801-1803)ACA>GCA	12	12				0	Broad	mucin and cadherin-like isoform 1			618758		0.667	ENSG00000099834	3064	g.chr11:618758T>C	calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							110.238354	KEEP	67	19	-1	117	75	67	19	-1	116.962248	117	75	0.295455	1	0	0	0	0	1	0	0	0	--	--		0	C			IRF7_uc001lqh.2_5'Flank|IRF7_uc001lqi.2_5'Flank|IRF7_uc010qwh.1_5'Flank|CDHR5_uc001lqk.2_Intron|CDHR5_uc009ycc.2_Missense_Mutation_p.T435A|CDHR5_uc009ycd.2_Missense_Mutation_p.T595A|CDHR5_uc001lql.2_Missense_Mutation_p.T601A	165	GBM-19-2625-TP	p.T601A	T	GTCTGTGCTGTGCCCCCACCG	NM_021924	NP_068743	618758	Q9HBB8	CDHR5_HUMAN	0			13	1906	-	C	C			Missense_Mutation	601			4 X 31 AA approximate tandem repeats.|2.|Extracellular (Potential).			
CDK12	51755	broad.mit.edu	GRCh37	17	37687203	37687203	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000447079.4:c.4107C>T	p.Thr1369=	p.T1369=	ENST00000447079	NM_015083.1	1369	acC/acT	0			1			T	T	uc010cvv.2	protein_coding	YES	CCDS11337.1			4107/4473									ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19	c.(4105-4107)ACC>ACT				Cdc2-related kinase, arginine/serine-rich				ENSP00000398880		14/14									COSM2151518	14/14	.		ENST00000447079	Transcript			mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	ENSG00000167258	g.chr17:37687203C>T	24224			LOW								--	--	1				TCGA Ovarian(9;0.13)																														CDK12_uc002hrw.3_Silent_p.T1360T	1	1			p.T1369T	NM_016507	NP_057591			1	CDK12_HUMAN	CDK12	HGNC	Q9NYV4	CDK12_HUMAN					14	4693	+			UPI000013E688	1369					SNV	CDK12,synonymous_variant,p.=,ENST00000447079,NM_015083.1,NM_016507.2;CDK12,synonymous_variant,p.=,ENST00000430627,;CDK12,downstream_gene_variant,,ENST00000584632,;CDK12,non_coding_transcript_exon_variant,,ENST00000584336,;CDK12,intron_variant,,ENST00000559663,;	uc010cvv.2	c.4107C>T	4140/8336	2	2			c.4107C>T						17	SNP	c.(4105-4107)ACC>ACT	20	20			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19	Broad	Cdc2-related kinase, arginine/serine-rich			37687203		0.552	ENSG00000167258	3070	g.chr17:37687203C>T	mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			277			277	10.687574	KEEP	6	4	-1	30	39	6	4	-1	20.528862	30	39	0.125	1	0	0	0	0	0	0	1	0	--	--	TCGA Ovarian(9;0.13)	0	T			CDK12_uc002hrw.3_Silent_p.T1360T	62	GBM-06-0649-TP	p.T1369T	C	TGGTCCAGACCCTGGTGAAGA	NM_016507	NP_057591	37687203	Q9NYV4	CDK12_HUMAN	0			14	4693	+	T	T			Silent	1369						
CDK12	51755	broad.mit.edu	GRCh37	17	37618715	37618716	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-06-5417-01	TCGA-06-5417-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000447079.4:c.397dup	p.Ser133LysfsTer24	p.S133Kfs*24	ENST00000447079	NM_015083.1	131	gaa/gAaa	0			1			A	E/EX	uc010cvv.2	protein_coding	YES	CCDS11337.1			391-392/4473									ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19	c.(391-393)GAAfs			Low_complexity_(Seg):seg	Cdc2-related kinase, arginine/serine-rich				ENSP00000398880		14-Jan										14-Jan	.		ENST00000447079	Transcript			mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	ENSG00000167258	g.chr17:37618715_37618716insA	24224	6		HIGH								--	--	1				TCGA Ovarian(9;0.13)																														CDK12_uc010wef.1_Frame_Shift_Ins_p.E131fs|CDK12_uc002hrw.3_Frame_Shift_Ins_p.E131fs		1			p.E131fs	NM_016507	NP_057591				CDK12_HUMAN	CDK12	HGNC	Q9NYV4	CDK12_HUMAN					1	977_978	+			UPI000013E688	131					insertion	CDK12,frameshift_variant,p.Ser133LysfsTer24,ENST00000447079,NM_015083.1,NM_016507.2;CDK12,frameshift_variant,p.Ser133LysfsTer24,ENST00000430627,;CDK12,frameshift_variant,p.Ser133LysfsTer24,ENST00000584632,;	uc010cvv.2	c.391_392insA	424-425/8336	5	5			c.391_392insA						17	INS	c.(391-393)GAAfs	35	35			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19	Broad	Cdc2-related kinase, arginine/serine-rich			37618716		0.52	ENSG00000167258	3070	g.chr17:37618715_37618716insA	mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			277			277														0.46	1	0	0	1	1	0	0	0	0	--	--	TCGA Ovarian(9;0.13)	0	A			CDK12_uc010wef.1_Frame_Shift_Ins_p.E131fs|CDK12_uc002hrw.3_Frame_Shift_Ins_p.E131fs	99	GBM-06-5417-TP	p.E131fs	-	GACCGAAAAAGAAAAAAGCCAA	NM_016507	NP_057591	37618715	Q9NYV4	CDK12_HUMAN	0			1	977_978	+	A	A			Frame_Shift_Ins	131						
CDK13	8621	broad.mit.edu	GRCh37	7	40132451	40132451	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-06-0190-01	TCGA-06-0190-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000181839.4:c.3303T>G	p.Ser1101=	p.S1101=	ENST00000181839	NM_031267.3	1101	tcT/tcG	0			1			G	S	uc003thh.3	protein_coding	YES	CCDS5461.1			3303/4539									lung(2)|skin(2)|ovary(1)	5	c.(3301-3303)TCT>TCG			hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF125	cell division cycle 2-like 5 isoform 1				ENSP00000181839		13/14									COSM3412034	13/14	.		ENST00000181839	Transcript			alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	ENSG00000065883	g.chr7:40132451T>G	1733			LOW								--	--	1																																		CDK13_uc003thi.3_Intron|CDK13_uc003thj.2_Silent_p.S152S|CDK13_uc003thk.2_Silent_p.S34S	1	1			p.S1101S	NM_003718	NP_003709			1	CDK13_HUMAN	CDK13	HGNC	Q14004	CDK13_HUMAN					13	3585	+			UPI000013C5E3	1101					SNV	CDK13,synonymous_variant,p.=,ENST00000181839,NM_031267.3,NM_003718.4;CDK13,intron_variant,,ENST00000340829,;CDK13,non_coding_transcript_exon_variant,,ENST00000465643,;CDK13,intron_variant,,ENST00000478563,;	uc003thh.3	c.3303T>G	3908/7298	3	3			c.3303T>G						7	SNP	c.(3301-3303)TCT>TCG	50	50			lung(2)|skin(2)|ovary(1)	5	Broad	cell division cycle 2-like 5 isoform 1			40132451		0.343	ENSG00000065883	3071	g.chr7:40132451T>G	alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			238			238	59.424465	KEEP	17	12	-1	73	89	17	12	-1	78.273091	73	89	0.158824	1	0	0	0	0	0	0	1	0	--	--		0	G			CDK13_uc003thi.3_Intron|CDK13_uc003thj.2_Silent_p.S152S|CDK13_uc003thk.2_Silent_p.S34S	43	GBM-06-0190-TP	p.S1101S	T	TACTACAATCTAAAACAAGTG	NM_003718	NP_003709	40132451	Q14004	CDK13_HUMAN	0			13	3585	+	G	G			Silent	1101						
CDK13	8621	broad.mit.edu	GRCh37	7	40132440	40132442	+	inframe_deletion	In_Frame_Del	DEL	CTA	CTA	-			TCGA-06-0190-01	TCGA-06-0190-01	CTA	CTA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000181839.4:c.3296_3298del	p.Leu1099del	p.L1099del	ENST00000181839	NM_031267.3	1098	CTA/-	0			1			-	L/-	uc003thh.3	protein_coding	YES	CCDS5461.1			3292-3294/4539									lung(2)|skin(2)|ovary(1)	5	c.(3292-3294)CTAdel			hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF125	cell division cycle 2-like 5 isoform 1				ENSP00000181839		13/14										13/14	.		ENST00000181839	Transcript			alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	ENSG00000065883	g.chr7:40132440_40132442delCTA	1733	4		MODERATE								--	--	1																																		CDK13_uc003thi.3_Intron|CDK13_uc003thj.2_In_Frame_Del_p.L150del|CDK13_uc003thk.2_In_Frame_Del_p.L32del		1			p.L1099del	NM_003718	NP_003709				CDK13_HUMAN	CDK13	HGNC	Q14004	CDK13_HUMAN					13	3574_3576	+			UPI000013C5E3	1099					deletion	CDK13,inframe_deletion,p.Leu1099del,ENST00000181839,NM_031267.3,NM_003718.4;CDK13,intron_variant,,ENST00000340829,;CDK13,non_coding_transcript_exon_variant,,ENST00000465643,;CDK13,intron_variant,,ENST00000478563,;	uc003thh.3	c.3292_3294delCTA	3897-3899/7298	5	5			c.3292_3294delCTA						7	DEL	c.(3292-3294)CTAdel	52	52			lung(2)|skin(2)|ovary(1)	5	Broad	cell division cycle 2-like 5 isoform 1			40132442		0.335	ENSG00000065883	3071	g.chr7:40132440_40132442delCTA	alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			238			238														0.13	1	1	0	1	0	0	0	0	0	--	--		0	-			CDK13_uc003thi.3_Intron|CDK13_uc003thj.2_In_Frame_Del_p.L150del|CDK13_uc003thk.2_In_Frame_Del_p.L32del	43	GBM-06-0190-TP	p.L1099del	CTA	TCTACTAAACCTACTACAATCTA	NM_003718	NP_003709	40132440	Q14004	CDK13_HUMAN	0			13	3574_3576	+	-	-			In_Frame_Del	1099						
CDK13	0	broad.mit.edu	GRCh37	7	40039057	40039057	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-2554-01	TCGA-14-2554-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000181839.4:c.2140G>A	p.Gly714Ser	p.G714S	ENST00000181839	NM_031267.3	714	Ggt/Agt	0			1			A	G/S	uc003thh.3	protein_coding	YES	CCDS5461.1			2140/4539									lung(2)|skin(2)|ovary(1)	5	c.(2140-2142)GGT>AGT			Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_patterns:PS00107,PROSITE_profiles:PS50011,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF125,SMART_domains:SM00220,Superfamily_domains:SSF56112	cell division cycle 2-like 5 isoform 1				ENSP00000181839		14-Apr									COSM3412030	14-Apr	.		ENST00000181839	Transcript			alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	ENSG00000065883	g.chr7:40039057G>A	1733			MODERATE		4.045	high	getma.org/?cm=msa&ty=f&p=CDK13_HUMAN&rb=705&re=998&var=G714S	getma.org/pdb.php?prot=CDK13_HUMAN&from=705&to=998&var=G714S	getma.org/?cm=var&var=hg19,7,40039057,G,A&fts=all	G714S	--	--	1																																		CDK13_uc003thi.3_Missense_Mutation_p.G714S|CDK13_uc011kbf.1_Missense_Mutation_p.G100S	1	1		probably_damaging(0.989)	p.G714S	NM_003718	NP_003709		deleterious(0)	1	CDK13_HUMAN	CDK13	HGNC	Q14004	CDK13_HUMAN					4	2422	+			UPI000013C5E3	714			Protein kinase.|ATP (By similarity).		SNV	CDK13,missense_variant,p.Gly714Ser,ENST00000181839,NM_031267.3,NM_003718.4;CDK13,missense_variant,p.Gly714Ser,ENST00000340829,;CDK13,non_coding_transcript_exon_variant,,ENST00000484589,;	uc003thh.3	c.2140G>A	2745/7298	2	2			c.2140G>A						7	SNP	c.(2140-2142)GGT>AGT	28	28			lung(2)|skin(2)|ovary(1)	5	Broad	cell division cycle 2-like 5 isoform 1			40039057		0.413	ENSG00000065883	3071	g.chr7:40039057G>A	alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity		p.G714S(ACCMESO1-Tumor)	238		p.G714S(ACCMESO1-Tumor)	238	161.23318	KEEP	32	30	-1	75	89	32	30	-1	171.003655	75	89	0.269608	1	0	0	0	0	1	0	0	0	--	--		0	A			CDK13_uc003thi.3_Missense_Mutation_p.G714S|CDK13_uc011kbf.1_Missense_Mutation_p.G100S	150	GBM-14-2554-TP	p.G714S	G	TATTGGAGAAGGTACTTACGG	NM_003718	NP_003709	40039057	Q14004	CDK13_HUMAN	0			4	2422	+	A	A			Missense_Mutation	714			Protein kinase.|ATP (By similarity).			
CDK13	0	broad.mit.edu	GRCh37	7	40117639	40117639	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01	TCGA-19-5954-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000181839.4:c.2816C>T	p.Pro939Leu	p.P939L	ENST00000181839	NM_031267.3	939	cCt/cTt	0			1			T	P/L	uc003thh.3	protein_coding	YES	CCDS5461.1			2816/4539									lung(2)|skin(2)|ovary(1)	5	c.(2815-2817)CCT>CTT			Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF125,SMART_domains:SM00220,Superfamily_domains:SSF56112	cell division cycle 2-like 5 isoform 1				ENSP00000181839		14-Oct									COSM2156753	14-Oct	.		ENST00000181839	Transcript			alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	ENSG00000065883	g.chr7:40117639C>T	1733			MODERATE		2.435	medium	getma.org/?cm=msa&ty=f&p=CDK13_HUMAN&rb=705&re=998&var=P939L	getma.org/pdb.php?prot=CDK13_HUMAN&from=705&to=998&var=P939L	getma.org/?cm=var&var=hg19,7,40117639,C,T&fts=all	P939L	--	--	1																																		CDK13_uc003thi.3_Missense_Mutation_p.P939L|CDK13_uc003thj.2_5'UTR	1	1		probably_damaging(0.999)	p.P939L	NM_003718	NP_003709		deleterious(0)	1	CDK13_HUMAN	CDK13	HGNC	Q14004	CDK13_HUMAN					10	3098	+			UPI000013C5E3	939			Protein kinase.		SNV	CDK13,missense_variant,p.Pro939Leu,ENST00000181839,NM_031267.3,NM_003718.4;CDK13,missense_variant,p.Pro939Leu,ENST00000340829,;CDK13,upstream_gene_variant,,ENST00000478563,;	uc003thh.3	c.2816C>T	3421/7298	1	1			c.2816C>T						7	SNP	c.(2815-2817)CCT>CTT	16	16			lung(2)|skin(2)|ovary(1)	5	Broad	cell division cycle 2-like 5 isoform 1			40117639		0.368	ENSG00000065883	3071	g.chr7:40117639C>T	alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			238			238	149.783725	KEEP	27	32	-1	68	75	27	32	-1	157.196669	68	75	0.284916	1	0	0	0	0	1	0	0	0	--	--		0	T			CDK13_uc003thi.3_Missense_Mutation_p.P939L|CDK13_uc003thj.2_5'UTR	174	GBM-19-5954-TP	p.P939L	C	GCAGTGTGGCCTGATGTAATC	NM_003718	NP_003709	40117639	Q14004	CDK13_HUMAN	0			10	3098	+	T	T			Missense_Mutation	939			Protein kinase.			
CDK13	0	broad.mit.edu	GRCh37	7	40127783	40127783	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-32-1970-01	TCGA-32-1970-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000181839.4:c.3088C>T	p.Gln1030Ter	p.Q1030*	ENST00000181839	NM_031267.3	1030	Cag/Tag	0			1			T	Q/*	uc003thh.3	protein_coding	YES	CCDS5461.1			3088/4539									lung(2)|skin(2)|ovary(1)	5	c.(3088-3090)CAG>TAG			hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF125	cell division cycle 2-like 5 isoform 1				ENSP00000181839		14-Dec									COSM3412033	14-Dec	.		ENST00000181839	Transcript			alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	ENSG00000065883	g.chr7:40127783C>T	1733			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,40127783,C,T&fts=all	Q1030*	--	--	1																																		CDK13_uc003thi.3_Nonsense_Mutation_p.Q1030*|CDK13_uc003thj.2_Nonsense_Mutation_p.Q81*	1	1			p.Q1030*	NM_003718	NP_003709			1	CDK13_HUMAN	CDK13	HGNC	Q14004	CDK13_HUMAN					12	3370	+			UPI000013C5E3	1030					SNV	CDK13,stop_gained,p.Gln1030Ter,ENST00000181839,NM_031267.3,NM_003718.4;CDK13,stop_gained,p.Gln1030Ter,ENST00000340829,;CDK13,non_coding_transcript_exon_variant,,ENST00000478563,;CDK13,upstream_gene_variant,,ENST00000465643,;	uc003thh.3	c.3088C>T	3693/7298	5	2			c.3088C>T						7	SNP	c.(3088-3090)CAG>TAG	36	36			lung(2)|skin(2)|ovary(1)	5	Broad	cell division cycle 2-like 5 isoform 1			40127783		0.423	ENSG00000065883	3071	g.chr7:40127783C>T	alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			238			238	91.406338	KEEP	23	20	-1	75	71	23	20	-1	101.578134	75	71	0.240964	1	0	0	0	0	0	1	0	0	--	--		0	T			CDK13_uc003thi.3_Nonsense_Mutation_p.Q1030*|CDK13_uc003thj.2_Nonsense_Mutation_p.Q81*	228	GBM-32-1970-TP	p.Q1030*	C	AAGACAGAAGCAGATGGGCAT	NM_003718	NP_003709	40127783	Q14004	CDK13_HUMAN	0			12	3370	+	T	T			Nonsense_Mutation	1030						
CDK17	5128	broad.mit.edu	GRCh37	12	96688901	96688901	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G			TCGA-06-0192-01	TCGA-06-0192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261211.3:c.874-1G>C		p.X292_splice	ENST00000261211	NM_002595.4	292		0			1			G		uc001tep.1	protein_coding	YES	CCDS9061.1			874/1572									ovary(3)|lung(2)|kidney(1)|central_nervous_system(1)	7	c.e10-1				PCTAIRE protein kinase 2				ENSP00000261211											COSM2150673,COSM3399203		.		ENST00000261211	Transcript					ATP binding|cyclin-dependent protein kinase activity	ENSG00000059758	g.chr12:96688901C>G	8750			HIGH	16-Sep							--	--	1																																		CDK17_uc009ztk.2_Splice_Site_p.L292_splice|CDK17_uc010svb.1_Splice_Site_p.L239_splice	1,1	1			p.L292_splice	NM_002595	NP_002586			1,1	CDK17_HUMAN	CDK17	HGNC	Q00537	CDK17_HUMAN			F8VZY6_HUMAN,F8VUX2_HUMAN,F8VQZ9_HUMAN		10	1363	-			UPI000006F45A						SNV	CDK17,splice_acceptor_variant,,ENST00000261211,NM_002595.4,NM_001170464.2;CDK17,splice_acceptor_variant,,ENST00000543119,;CDK17,splice_acceptor_variant,,ENST00000542666,;CDK17,splice_acceptor_variant,,ENST00000553042,;CDK17,upstream_gene_variant,,ENST00000550971,;CDK17,non_coding_transcript_exon_variant,,ENST00000551484,;	uc001tep.1	c.874_splice	-/4157	5	3			c.874_splice						12	SNP	c.e10-1	60	60			ovary(3)|lung(2)|kidney(1)|central_nervous_system(1)	7	Broad	PCTAIRE protein kinase 2			96688901		0.358	ENSG00000059758	3075	g.chr12:96688901C>G			ATP binding|cyclin-dependent protein kinase activity			253			253	51.474842	KEEP	10	10	-1	40	33	10	10	-1	58.029844	40	33	0.215909	1	0	0	0	0	0	0	0	1	--	--		0	G			CDK17_uc009ztk.2_Splice_Site_p.L292_splice|CDK17_uc010svb.1_Splice_Site_p.L239_splice	44	GBM-06-0192-TP	p.L292_splice	C	ACAGAAACAGCTACAGAAACA	NM_002595	NP_002586	96688901	Q00537	CDK17_HUMAN	0			10	1363	-	G	G			Splice_Site							
CDK19	23097		GRCh37	6	110959910	110959910	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000368911.3:c.457-1G>A		p.X153_splice	ENST00000368911	NM_015076.3	153		0																																																																																																																																																																																																																																												
CDK5RAP2	55755	broad.mit.edu	GRCh37	9	123156840	123156840	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0747-01	TCGA-06-0747-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000349780.4:c.5528T>G	p.Met1843Arg	p.M1843R	ENST00000349780	NM_018249.5	1843	aTg/aGg	0			1			C	M/R	uc004bkf.2	protein_coding	YES	CCDS6823.1			5528/5682									ovary(2)|lung(1)|skin(1)	4	c.(5527-5529)ATG>AGG			hmmpanther:PTHR13895,hmmpanther:PTHR13895:SF13	CDK5 regulatory subunit associated protein 2				ENSP00000343818		36/38									COSM2151811	36/38	.		ENST00000349780	Transcript	1		brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	ENSG00000136861	g.chr9:123156840A>C	18672			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=CK5P2_HUMAN&rb=1734&re=1893&var=M1843R	NA	getma.org/?cm=var&var=hg19,9,123156840,A,C&fts=all	M1843R	--	--	1																																		CDK5RAP2_uc010mvi.2_Missense_Mutation_p.M852R|CDK5RAP2_uc004bke.2_Missense_Mutation_p.M1128R|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.M1764R|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.M1108R|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.M1108R|CDK5RAP2_uc011lya.1_Missense_Mutation_p.M1108R|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.M1613R	1	1		benign(0.071)	p.M1843R	NM_018249	NP_060719		deleterious(0)	1	CK5P2_HUMAN	CDK5RAP2	HGNC	Q96SN8	CK5P2_HUMAN			F8WBJ0_HUMAN,C9K0C9_HUMAN		36	5709	-			UPI0000367673	1843			Interaction with PCNT and AKAP9.		SNV	CDK5RAP2,missense_variant,p.Met1843Arg,ENST00000349780,NM_018249.5;CDK5RAP2,missense_variant,p.Met1811Arg,ENST00000360822,NM_001272039.1;CDK5RAP2,missense_variant,p.Met1802Arg,ENST00000359309,;CDK5RAP2,missense_variant,p.Met1764Arg,ENST00000360190,NM_001011649.2;CDK5RAP2,missense_variant,p.Met1237Arg,ENST00000416449,;CDK5RAP2,missense_variant,p.Met853Arg,ENST00000425647,;CDK5RAP2,non_coding_transcript_exon_variant,,ENST00000480467,;CDK5RAP2,non_coding_transcript_exon_variant,,ENST00000433194,;CDK5RAP2,3_prime_UTR_variant,,ENST00000473282,;CDK5RAP2,3_prime_UTR_variant,,ENST00000480112,;CDK5RAP2,non_coding_transcript_exon_variant,,ENST00000484546,;CDK5RAP2,non_coding_transcript_exon_variant,,ENST00000474262,;CDK5RAP2,upstream_gene_variant,,ENST00000495406,;	uc004bkf.2	c.5528T>G	5708/6228	3	3			c.5528T>G						9	SNP	c.(5527-5529)ATG>AGG	4	4			ovary(2)|lung(1)|skin(1)	4	Broad	CDK5 regulatory subunit associated protein 2			123156840		0.423	ENSG00000136861	3088	g.chr9:123156840A>C	brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding							187.069981	KEEP	32	21	-1	39	39	32	21	-1	187.758587	39	39	0.420635	1	0	0	0	0	1	0	0	0	--	--		0	C			CDK5RAP2_uc010mvi.2_Missense_Mutation_p.M852R|CDK5RAP2_uc004bke.2_Missense_Mutation_p.M1128R|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.M1764R|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.M1108R|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.M1108R|CDK5RAP2_uc011lya.1_Missense_Mutation_p.M1108R|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.M1613R	68	GBM-06-0747-TP	p.M1843R	A	CAAAAGCTTCATGGTGTTTTG	NM_018249	NP_060719	123156840	Q96SN8	CK5P2_HUMAN	0			36	5709	-	C	C			Missense_Mutation	1843			Interaction with PCNT and AKAP9.			
CDK5RAP2	0	broad.mit.edu	GRCh37	9	123313122	123313122	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-19-2629-01	TCGA-19-2629-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000349780.4:c.254A>T	p.Glu85Val	p.E85V	ENST00000349780	NM_018249.5	85	gAg/gTg	0			1			A	E/V	uc004bkf.2	protein_coding	YES	CCDS6823.1			254/5682									ovary(2)|lung(1)|skin(1)	4	c.(253-255)GAG>GTG			hmmpanther:PTHR13895,hmmpanther:PTHR13895:SF13,Pfam_domain:PF07989	CDK5 regulatory subunit associated protein 2				ENSP00000343818		Apr-38									COSM3413309	Apr-38	.		ENST00000349780	Transcript	1		brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	ENSG00000136861	g.chr9:123313122T>A	18672			MODERATE		3.005	medium	getma.org/?cm=msa&ty=f&p=CK5P2_HUMAN&rb=59&re=133&var=E85V	NA	getma.org/?cm=var&var=hg19,9,123313122,T,A&fts=all	E85V	--	--	1																																		CDK5RAP2_uc004bkg.2_Missense_Mutation_p.E85V|CDK5RAP2_uc011lxw.1_5'UTR|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_5'UTR|CDK5RAP2_uc011lya.1_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.E85V	1	1		possibly_damaging(0.728)	p.E85V	NM_018249	NP_060719		deleterious(0)	1	CK5P2_HUMAN	CDK5RAP2	HGNC	Q96SN8	CK5P2_HUMAN			F8WBJ0_HUMAN,C9K0C9_HUMAN		4	435	-			UPI0000367673	85					SNV	CDK5RAP2,missense_variant,p.Glu85Val,ENST00000349780,NM_018249.5;CDK5RAP2,missense_variant,p.Glu85Val,ENST00000360822,NM_001272039.1;CDK5RAP2,missense_variant,p.Glu85Val,ENST00000359309,;CDK5RAP2,missense_variant,p.Glu85Val,ENST00000360190,NM_001011649.2;CDK5RAP2,missense_variant,p.Glu84Val,ENST00000473282,;CDK5RAP2,missense_variant,p.Glu84Val,ENST00000480112,;CDK5RAP2,missense_variant,p.Glu85Val,ENST00000481266,;	uc004bkf.2	c.254A>T	434/6228	1	1			c.254A>T						9	SNP	c.(253-255)GAG>GTG	55	55			ovary(2)|lung(1)|skin(1)	4	Broad	CDK5 regulatory subunit associated protein 2			123313122		0.383	ENSG00000136861	3088	g.chr9:123313122T>A	brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding							-38.636951	KEEP	1	5	-1	124	105	1	5	-1	10.449916	124	105	0.029703	1	0	0	0	0	1	0	0	0	--	--		0	A			CDK5RAP2_uc004bkg.2_Missense_Mutation_p.E85V|CDK5RAP2_uc011lxw.1_5'UTR|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_5'UTR|CDK5RAP2_uc011lya.1_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.E85V	166	GBM-19-2629-TP	p.E85V	T	CATTCTTTCCTCAAGGAAATA	NM_018249	NP_060719	123313122	Q96SN8	CK5P2_HUMAN	0			4	435	-	A	A			Missense_Mutation	85						
CDK7	0	broad.mit.edu	GRCh37	5	68555711	68555711	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-5139-01	TCGA-26-5139-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256443.3:c.475G>A	p.Ala159Thr	p.A159T	ENST00000256443	NM_001799.3	159	Gcc/Acc	0			1			A	A/T	uc003jvs.3	protein_coding	YES	CCDS3999.1			475/1041									lung(1)	1	c.(475-477)GCC>ACC		NER	PROSITE_profiles:PS50011,hmmpanther:PTHR24056:SF0,hmmpanther:PTHR24056,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	cyclin-dependent kinase 7				ENSP00000256443		12-Jul									COSM3410381,COSM3410382	12-Jul	.		ENST00000256443	Transcript			androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity	ENSG00000134058	g.chr5:68555711G>A	1778			MODERATE		3.155	medium	getma.org/?cm=msa&ty=f&p=CDK7_HUMAN&rb=12&re=295&var=A159T	getma.org/pdb.php?prot=CDK7_HUMAN&from=12&to=295&var=A159T	getma.org/?cm=var&var=hg19,5,68555711,G,A&fts=all	A159T	--	--	1																																		CDK7_uc003jvt.3_Missense_Mutation_p.A118T|CDK7_uc003jvu.3_Missense_Mutation_p.A66T	1,1	1		probably_damaging(0.999)	p.A159T	NM_001799	NP_001790		deleterious(0)	1,1	CDK7_HUMAN	CDK7	HGNC	P50613	CDK7_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)	D6REC6_HUMAN,D6R9G1_HUMAN		7	656	+		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	UPI0000127431	159			Protein kinase.		SNV	CDK7,missense_variant,p.Ala66Thr,ENST00000502604,;CDK7,missense_variant,p.Ala159Thr,ENST00000256443,NM_001799.3;CDK7,missense_variant,p.Ala122Thr,ENST00000514676,;CDK7,missense_variant,p.Ala66Thr,ENST00000506563,;CDK7,intron_variant,,ENST00000513629,;CDK7,3_prime_UTR_variant,,ENST00000510106,;CDK7,3_prime_UTR_variant,,ENST00000515391,;CDK7,3_prime_UTR_variant,,ENST00000504147,;CDK7,3_prime_UTR_variant,,ENST00000506789,;CDK7,intron_variant,,ENST00000508726,;CDK7,downstream_gene_variant,,ENST00000512687,;CDK7,downstream_gene_variant,,ENST00000515180,;	uc003jvs.3	c.475G>A	578/1432	1	1			c.475G>A						5	SNP	c.(475-477)GCC>ACC	51	51			lung(1)	1	Broad	cyclin-dependent kinase 7	NER		68555711		0.388	ENSG00000134058	3091	g.chr5:68555711G>A	androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity			197			197	-36.850386	KEEP	5	1	-1	87	102	5	1	-1	7.60518	87	102	0.032258	1	0	0	0	0	1	0	0	0	--	--		0	A			CDK7_uc003jvt.3_Missense_Mutation_p.A118T|CDK7_uc003jvu.3_Missense_Mutation_p.A66T	186	GBM-26-5139-TP	p.A159T	G	TTTTGGCCTGGCCAAATCTTT	NM_001799	NP_001790	68555711	P50613	CDK7_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)	7	656	+	A	A		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	Missense_Mutation	159			Protein kinase.			
CDKL1	8814	broad.mit.edu	GRCh37	14	50862534	50862534	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0166-01	TCGA-06-0166-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395834.1:c.56T>C	p.Val19Ala	p.V19A	ENST00000395834	NM_004196.3	19	gTt/gCt	0			1			G	V/A	uc010anu.1	protein_coding	YES	CCDS9699.1			56/1077									ovary(1)|stomach(1)	2	c.(622-624)GTT>GCT			Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_patterns:PS00107,PROSITE_profiles:PS50011,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF153,SMART_domains:SM00220,Superfamily_domains:SSF56112	cyclin-dependent kinase-like 1				ENSP00000379176		9-Jan									COSM2150198,COSM2150197	9-Jan	.		ENST00000395834	Transcript				cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	ENSG00000100490	g.chr14:50862534A>G	1781			MODERATE		2.98	medium	getma.org/?cm=msa&ty=f&p=CDKL1_HUMAN&rb=4&re=287&var=V18A	getma.org/pdb.php?prot=CDKL1_HUMAN&from=4&to=287&var=V18A	getma.org/?cm=var&var=hg19,14,50862534,A,G&fts=all	V18A	--	--	1																																		CDKL1_uc001wxz.2_Missense_Mutation_p.V19A	1,1	1		probably_damaging(1)	p.V208A	NM_004196	NP_004187		deleterious(0)	1,1	CDKL1_HUMAN	CDKL1	HGNC	Q00532	CDKL1_HUMAN					5	623	-	all_epithelial(31;0.000746)|Breast(41;0.0102)		UPI000013C6E9	18			ATP (By similarity).|Protein kinase.		SNV	CDKL1,missense_variant,p.Val19Ala,ENST00000216378,NM_001282236.1;CDKL1,missense_variant,p.Val19Ala,ENST00000395834,NM_004196.3;RP11-247L20.3,upstream_gene_variant,,ENST00000556713,;CDKL1,non_coding_transcript_exon_variant,,ENST00000356146,;CDKL1,non_coding_transcript_exon_variant,,ENST00000531052,;CDKL1,downstream_gene_variant,,ENST00000530553,;CDKL1,downstream_gene_variant,,ENST00000534566,;	uc010anu.1	c.623T>C	84/1587	4	4			c.623T>C						14	SNP	c.(622-624)GTT>GCT	29	29			ovary(1)|stomach(1)	2	Broad	cyclin-dependent kinase-like 1			50862534		0.358	ENSG00000100490	3095	g.chr14:50862534A>G		cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			153			153	88.861069	KEEP	24	8	-1	34	47	24	8	-1	93.528634	34	47	0.27451	1	0	0	0	0	1	0	0	0	--	--		0	G			CDKL1_uc001wxz.2_Missense_Mutation_p.V19A	31	GBM-06-0166-TP	p.V208A	A	ACATTTGAAAACAACTCCATA	NM_004196	NP_004187	50862534	Q00532	CDKL1_HUMAN	0			5	623	-	G	G	all_epithelial(31;0.000746)|Breast(41;0.0102)		Missense_Mutation	18			ATP (By similarity).|Protein kinase.			
CDKL1	8814	broad.mit.edu	GRCh37	14	50808934	50808934	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0875-01	TCGA-06-0875-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395834.1:c.373C>T	p.His125Tyr	p.H125Y	ENST00000395834	NM_004196.3	125	Cat/Tat	0			1			A	H/Y	uc010anu.1	protein_coding	YES	CCDS9699.1			373/1077									ovary(1)|stomach(1)	2	c.(2386-2388)CAT>TAT			Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_patterns:PS00108,PROSITE_profiles:PS50011,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF153,SMART_domains:SM00220,Superfamily_domains:SSF56112	cyclin-dependent kinase-like 1				ENSP00000379176		9-Apr									COSM2151993,COSM2151992	9-Apr	.		ENST00000395834	Transcript				cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	ENSG00000100490	g.chr14:50808934G>A	1781			MODERATE		3.09	medium	getma.org/?cm=msa&ty=f&p=CDKL1_HUMAN&rb=4&re=287&var=H124Y	getma.org/pdb.php?prot=CDKL1_HUMAN&from=4&to=287&var=H124Y	getma.org/?cm=var&var=hg19,14,50808934,G,A&fts=all	H124Y	--	--	1																																		CDKL1_uc001wxz.2_Missense_Mutation_p.H125Y	1,1	1		probably_damaging(1)	p.H796Y	NM_004196	NP_004187		deleterious(0)	1,1	CDKL1_HUMAN	CDKL1	HGNC	Q00532	CDKL1_HUMAN					17	2386	-	all_epithelial(31;0.000746)|Breast(41;0.0102)		UPI000013C6E9	124			Protein kinase.		SNV	CDKL1,missense_variant,p.His125Tyr,ENST00000216378,NM_001282236.1;CDKL1,missense_variant,p.His125Tyr,ENST00000395834,NM_004196.3;CDKL1,upstream_gene_variant,,ENST00000534267,;CDKL1,upstream_gene_variant,,ENST00000525911,;CDKL1,non_coding_transcript_exon_variant,,ENST00000356146,;CDKL1,non_coding_transcript_exon_variant,,ENST00000528197,;CDKL1,non_coding_transcript_exon_variant,,ENST00000542671,;CDKL1,non_coding_transcript_exon_variant,,ENST00000529347,;	uc010anu.1	c.2386C>T	401/1587	1	1			c.2386C>T						14	SNP	c.(2386-2388)CAT>TAT	51	51			ovary(1)|stomach(1)	2	Broad	cyclin-dependent kinase-like 1			50808934		0.333	ENSG00000100490	3095	g.chr14:50808934G>A		cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			153			153	120.320795	KEEP	25	23	-1	23	21	25	23	-1	120.320795	23	21	0.5	1	0	0	0	0	1	0	0	0	--	--		0	A			CDKL1_uc001wxz.2_Missense_Mutation_p.H125Y	71	GBM-06-0875-TP	p.H796Y	G	ACGTCTCTATGTATGCACTAG	NM_004196	NP_004187	50808934	Q00532	CDKL1_HUMAN	0			17	2386	-	A	A	all_epithelial(31;0.000746)|Breast(41;0.0102)		Missense_Mutation	124			Protein kinase.			
CDKL1	0	broad.mit.edu	GRCh37	14	50802891	50802891	+	intron_variant	Intron	SNP	A	A	G			TCGA-12-0692-01	TCGA-12-0692-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395834.1:c.742-1552T>C		*248*	ENST00000395834	NM_004196.3			0			1			G		uc010anu.1	protein_coding	YES	CCDS9699.1			-/1077									ovary(1)|stomach(1)	2	c.(2800-2802)TCT>TCC				cyclin-dependent kinase-like 1				ENSP00000379176			8.62E-06							8.05E-05	rs759951042		.		ENST00000395834	Transcript				cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	ENSG00000100490	g.chr14:50802891A>G	1781			MODIFIER	8-Jun							--	--	1																																		CDKL1_uc001wxz.2_Intron		1			p.S934S	NM_004196	NP_004187				CDKL1_HUMAN	CDKL1	HGNC	Q00532	CDKL1_HUMAN					20	2802	-	all_epithelial(31;0.000746)|Breast(41;0.0102)		UPI000013C6E9	Error:Variant_position_missing_in_Q00532_after_alignment					SNV	CDKL1,intron_variant,,ENST00000216378,NM_001282236.1;CDKL1,intron_variant,,ENST00000395834,NM_004196.3;CDKL1,intron_variant,,ENST00000534267,;CDKL1,intron_variant,,ENST00000525911,;ATP5S,downstream_gene_variant,,ENST00000358473,;CDKL1,non_coding_transcript_exon_variant,,ENST00000356146,;CDKL1,downstream_gene_variant,,ENST00000528197,;CDKL1,downstream_gene_variant,,ENST00000542671,;CDKL1,downstream_gene_variant,,ENST00000529347,;	uc010anu.1	c.2802T>C	-/1587	4	4			c.2802T>C						14	SNP	c.(2800-2802)TCT>TCC	20	20			ovary(1)|stomach(1)	2	Broad	cyclin-dependent kinase-like 1			50802891		0.567	ENSG00000100490	3095	g.chr14:50802891A>G		cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			153			153	60.78625	KEEP	11	9	-1	3	1	11	9	-1	62.66633	3	1	0.809524	1	0	0	0	0	0	0	1	0	--	--		0	G			CDKL1_uc001wxz.2_Intron	122	GBM-12-0692-TP	p.S934S	A	TCACAGCCCCAGAAGCAAGCA	NM_004196	NP_004187	50802891	Q00532	CDKL1_HUMAN	0			20	2802	-	G	G	all_epithelial(31;0.000746)|Breast(41;0.0102)		Silent	Error:Variant_position_missing_in_Q00532_after_alignment						
CDKL2	0	broad.mit.edu	GRCh37	4	76539498	76539498	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-5954-01	TCGA-19-5954-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000429927.2:c.304G>C	p.Val102Leu	p.V102L	ENST00000429927	NM_003948.3	102	Gta/Cta	0			1			G	V/L	uc003hiq.2	protein_coding	YES	CCDS3570.1			304/1482									ovary(2)|stomach(2)|breast(2)|skin(1)	7	c.(304-306)GTA>CTA			PROSITE_profiles:PS50011,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF160,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	cyclin-dependent kinase-like 2				ENSP00000412365		12-Mar									COSM2156777	12-Mar	.		ENST00000429927	Transcript			sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	ENSG00000138769	g.chr4:76539498C>G	1782			MODERATE		0.06	neutral	getma.org/?cm=msa&ty=f&p=CDKL2_HUMAN&rb=4&re=287&var=V102L	getma.org/pdb.php?prot=CDKL2_HUMAN&from=4&to=287&var=V102L	getma.org/?cm=var&var=hg19,4,76539498,C,G&fts=all	V102L	--	--	1																																		CDKL2_uc011cbp.1_Missense_Mutation_p.V102L|CDKL2_uc010iix.1_Intron	1	1		benign(0)	p.V102L	NM_003948	NP_003939		tolerated(0.55)	1	CDKL2_HUMAN	CDKL2	HGNC	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)				3	829	-			UPI000006D070	102			Protein kinase.		SNV	CDKL2,missense_variant,p.Val102Leu,ENST00000429927,NM_003948.3;CDKL2,missense_variant,p.Val102Leu,ENST00000307465,;CDKL2,intron_variant,,ENST00000506234,;	uc003hiq.2	c.304G>C	1008/3383	4	4			c.304G>C						4	SNP	c.(304-306)GTA>CTA	22	22			ovary(2)|stomach(2)|breast(2)|skin(1)	7	Broad	cyclin-dependent kinase-like 2			76539498		0.294	ENSG00000138769	3096	g.chr4:76539498C>G	sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			284			284	49.841628	KEEP	4	10	-1	13	12	4	10	-1	50.321748	13	12	0.378378	1	0	0	0	0	1	0	0	0	--	--		0	G			CDKL2_uc011cbp.1_Missense_Mutation_p.V102L|CDKL2_uc010iix.1_Intron	174	GBM-19-5954-TP	p.V102L	C	TTTTGAACTACTTGGTAGTCT	NM_003948	NP_003939	76539498	Q92772	CDKL2_HUMAN	0	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		3	829	-	G	G			Missense_Mutation	102			Protein kinase.			
CDKL2	0	broad.mit.edu	GRCh37	4	76522320	76522320	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-26-6174-01	TCGA-26-6174-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000429927.2:c.1121A>G	p.Asn374Ser	p.N374S	ENST00000429927	NM_003948.3	374	aAt/aGt	0			1			C	N/S	uc003hiq.2	protein_coding	YES	CCDS3570.1			1121/1482									ovary(2)|stomach(2)|breast(2)|skin(1)	7	c.(1120-1122)AAT>AGT			hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF160	cyclin-dependent kinase-like 2				ENSP00000412365		12-Sep									COSM3409484	12-Sep	.		ENST00000429927	Transcript			sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	ENSG00000138769	g.chr4:76522320T>C	1782			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=CDKL2_HUMAN&rb=288&re=487&var=N374S	NA	getma.org/?cm=var&var=hg19,4,76522320,T,C&fts=all	N374S	--	--	1																																		CDKL2_uc011cbp.1_Missense_Mutation_p.N374S	1	1		benign(0.144)	p.N374S	NM_003948	NP_003939		tolerated(0.08)	1	CDKL2_HUMAN	CDKL2	HGNC	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)				9	1646	-			UPI000006D070	374					SNV	CDKL2,missense_variant,p.Asn374Ser,ENST00000429927,NM_003948.3;CDKL2,missense_variant,p.Asn374Ser,ENST00000307465,;CDKL2,non_coding_transcript_exon_variant,,ENST00000515793,;CDKL2,downstream_gene_variant,,ENST00000506234,;	uc003hiq.2	c.1121A>G	1825/3383	3	3			c.1121A>G						4	SNP	c.(1120-1122)AAT>AGT	52	52			ovary(2)|stomach(2)|breast(2)|skin(1)	7	Broad	cyclin-dependent kinase-like 2			76522320		0.393	ENSG00000138769	3096	g.chr4:76522320T>C	sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			284			284	101.909967	KEEP	19	15	-1	45	40	19	15	-1	106.759485	45	40	0.284483	1	0	0	0	0	1	0	0	0	--	--		0	C			CDKL2_uc011cbp.1_Missense_Mutation_p.N374S	188	GBM-26-6174-TP	p.N374S	T	ACAGCTGGCATTTGAAGCTCT	NM_003948	NP_003939	76522320	Q92772	CDKL2_HUMAN	0	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		9	1646	-	C	C			Missense_Mutation	374						
CDKL3	0	broad.mit.edu	GRCh37	5	133634348	133634349	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-06-6700-01	TCGA-06-6700-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265334.4:c.1772dupT	p.Trp592LeufsTer15	p.W592Lfs*15	ENST00000265334	NM_001113575.1	591	ttc/ttTc	0			1			A	F/FX	uc003kzf.3	protein_coding	YES	CCDS47264.1			1772-1773/1779									breast(1)	1	c.(1771-1773)TTCfs				cyclin-dependent kinase-like 3 isoform 1				ENSP00000265334		13/13									rs753494539,COSM1247950	13/13	.		ENST00000265334	Transcript				cytoplasm	ATP binding|cyclin-dependent protein kinase activity	ENSG00000006837	g.chr5:133634348_133634349insA	15483			HIGH								--	--	1																																		CDKL3_uc011cxm.1_Intron|CDKL3_uc011cxn.1_Intron|CDKL3_uc010jdw.2_Intron|CDKL3_uc011cxo.1_Intron|CDKL3_uc011cxp.1_Intron|CDKL3_uc011cxq.1_3'UTR	0,1	1			p.F591fs	NM_001113575	NP_001107047			0,1	CDKL3_HUMAN	CDKL3	HGNC	Q8IVW4	CDKL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)				13	1891_1892	-			UPI00000745AD	591					insertion	CDKL3,frameshift_variant,p.Trp592LeufsTer15,ENST00000265334,NM_001113575.1;CDKL3,3_prime_UTR_variant,,ENST00000523054,;CDKL3,3_prime_UTR_variant,,ENST00000518990,;CDKL3,intron_variant,,ENST00000609654,;CDKL3,intron_variant,,ENST00000435240,;CDKL3,intron_variant,,ENST00000536186,;CDKL3,intron_variant,,ENST00000609383,;CDKL3,downstream_gene_variant,,ENST00000521118,;CTD-2410N18.4,intron_variant,,ENST00000518409,;CTD-2410N18.4,intron_variant,,ENST00000520515,;CDKL3,intron_variant,,ENST00000520693,;CDKL3,intron_variant,,ENST00000519312,;	uc003kzf.3	c.1772_1773insT	1891-1892/2127	5	5			c.1772_1773insT						5	INS	c.(1771-1773)TTCfs	47	47			breast(1)	1	Broad	cyclin-dependent kinase-like 3 isoform 1			133634349		0.356	ENSG00000006837	3097	g.chr5:133634348_133634349insA		cytoplasm	ATP binding|cyclin-dependent protein kinase activity			391			391														0.04	1	0	0	1	1	0	0	0	0	--	--		0	A			CDKL3_uc011cxm.1_Intron|CDKL3_uc011cxn.1_Intron|CDKL3_uc010jdw.2_Intron|CDKL3_uc011cxo.1_Intron|CDKL3_uc011cxp.1_Intron|CDKL3_uc011cxq.1_3'UTR	114	GBM-06-6700-TP	p.F591fs	-	GACACTACCAGAAAAAAAACCT	NM_001113575	NP_001107047	133634348	Q8IVW4	CDKL3_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		13	1891_1892	-	A	A			Frame_Shift_Ins	591						
CDKL5	6792	broad.mit.edu	GRCh37	X	18664128	18664128	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379989.3:c.2715C>T		p.X905_splice	ENST00000379989	NM_001037343.1	905	gaC/gaT	0	T:0.0003	T:0	1	T:0		T	D	uc004cym.2	protein_coding	YES	CCDS14186.1			2715/3093								p.D905D(1)	ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	c.(2713-2715)GAC>GAT				cyclin-dependent kinase-like 5		T:0	T:0	ENSP00000369325	T:0.001	20/22	0.000132	0.000118				6.25E-05	0.00158	0.000596	rs201714912,COSM35405	20/22	common_variant		ENST00000379989	Transcript	1	T:0.0003	neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	ENSG00000008086	g.chrX:18664128C>T	11411			LOW								--	--	1																																		CDKL5_uc004cyn.2_Silent_p.D905D|RS1_uc004cyo.2_Intron	0,1	1			p.D905D	NM_003159	NP_003150	T:0		0,1	CDKL5_HUMAN	CDKL5	HGNC	O76039	CDKL5_HUMAN					19	2968	+	Hepatocellular(33;0.183)		UPI0000136103	905					SNV	CDKL5,splice_region_variant,p.=,ENST00000379989,NM_001037343.1;CDKL5,splice_region_variant,p.=,ENST00000379996,NM_003159.2;RS1,intron_variant,,ENST00000379984,NM_000330.3;RS1,intron_variant,,ENST00000476595,;	uc004cym.2	c.2715C>T	3000/3459	2	2			c.2715C>T						23	SNP	c.(2713-2715)GAC>GAT	20	20		p.D905D(1)	ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Broad	cyclin-dependent kinase-like 5			18664128		0	ENSG00000008086	3099	g.chrX:18664128C>T	neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			244			244	66.638312	KEEP	22	5	-1	22	47	22	5	-1	69.716555	22	47	0.297619	1	0	0	0	0	0	0	1	0	--	--		0	T			CDKL5_uc004cyn.2_Silent_p.D905D|RS1_uc004cyo.2_Intron	18	GBM-06-0137-TP	p.D905D	C	actaactagacggtggatgtg	NM_003159	NP_003150	18664128	O76039	CDKL5_HUMAN	0			19	2968	+	T	T	Hepatocellular(33;0.183)		Silent	905						
CDKL5	6792	broad.mit.edu	GRCh37	X	18597977	18597977	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2570-01	TCGA-06-2570-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379989.3:c.292G>A	p.Glu98Lys	p.E98K	ENST00000379989	NM_001037343.1	98	Gaa/Aaa	0			1			A	E/K	uc004cym.2	protein_coding	YES	CCDS14186.1			292/3093									ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	c.(292-294)GAA>AAA			Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF111,SMART_domains:SM00220,Superfamily_domains:SSF56112	cyclin-dependent kinase-like 5				ENSP00000369325		22-Jul									COSM2153110	22-Jul	.		ENST00000379989	Transcript	1		neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	ENSG00000008086	g.chrX:18597977G>A	11411			MODERATE		0.525	neutral	getma.org/?cm=msa&ty=f&p=CDKL5_HUMAN&rb=13&re=297&var=E98K	getma.org/pdb.php?prot=CDKL5_HUMAN&from=13&to=297&var=E98K	getma.org/?cm=var&var=hg19,X,18597977,G,A&fts=all	E98K	--	--	1																																		CDKL5_uc004cyn.2_Missense_Mutation_p.E98K	1	1		possibly_damaging(0.881)	p.E98K	NM_003159	NP_003150		deleterious_low_confidence(0)	1	CDKL5_HUMAN	CDKL5	HGNC	O76039	CDKL5_HUMAN					6	545	+	Hepatocellular(33;0.183)		UPI0000136103	98			Protein kinase.		SNV	CDKL5,missense_variant,p.Glu98Lys,ENST00000379989,NM_001037343.1;CDKL5,missense_variant,p.Glu98Lys,ENST00000379996,NM_003159.2;	uc004cym.2	c.292G>A	577/3459	2	2			c.292G>A						23	SNP	c.(292-294)GAA>AAA	25	25			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Broad	cyclin-dependent kinase-like 5			18597977		0.328	ENSG00000008086	3099	g.chrX:18597977G>A	neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			244			244	222.650355	KEEP	36	39	-1	15	21	36	39	-1	224.866537	15	21	0.656863	1	0	0	0	0	1	0	0	0	--	--		0	A			CDKL5_uc004cyn.2_Missense_Mutation_p.E98K	91	GBM-06-2570-TP	p.E98K	G	GAATATGCTCGAATTGCTGGA	NM_003159	NP_003150	18597977	O76039	CDKL5_HUMAN	0			6	545	+	A	A	Hepatocellular(33;0.183)		Missense_Mutation	98			Protein kinase.			
CDKL5	0	broad.mit.edu	GRCh37	X	18622176	18622176	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-6391-01	TCGA-06-6391-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379989.3:c.1132C>G	p.Pro378Ala	p.P378A	ENST00000379989	NM_001037343.1	378	Cca/Gca	0			1			G	P/A	uc004cym.2	protein_coding	YES	CCDS14186.1			1132/3093									ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	c.(1132-1134)CCA>GCA			hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF111	cyclin-dependent kinase-like 5				ENSP00000369325		13/22										13/22	.		ENST00000379989	Transcript	1		neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	ENSG00000008086	g.chrX:18622176C>G	11411			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=CDKL5_HUMAN&rb=361&re=765&var=P378A	NA	getma.org/?cm=var&var=hg19,X,18622176,C,G&fts=all	P378A	--	--	1																																		CDKL5_uc004cyn.2_Missense_Mutation_p.P378A		1		possibly_damaging(0.539)	p.P378A	NM_003159	NP_003150		deleterious_low_confidence(0.01)		CDKL5_HUMAN	CDKL5	HGNC	O76039	CDKL5_HUMAN					12	1385	+	Hepatocellular(33;0.183)		UPI0000136103	378					SNV	CDKL5,missense_variant,p.Pro378Ala,ENST00000379989,NM_001037343.1;CDKL5,missense_variant,p.Pro378Ala,ENST00000379996,NM_003159.2;CDKL5,non_coding_transcript_exon_variant,,ENST00000463994,;	uc004cym.2	c.1132C>G	1417/3459	3	3			c.1132C>G						23	SNP	c.(1132-1134)CCA>GCA	62	62			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Broad	cyclin-dependent kinase-like 5			18622176		0.522	ENSG00000008086	3099	g.chrX:18622176C>G	neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			244			244	90.251434	KEEP	15	24	-1	73	108	15	24	-1	110.784111	73	108	0.177033	1	0	0	0	0	1	0	0	0	--	--		0	G			CDKL5_uc004cyn.2_Missense_Mutation_p.P378A	107	GBM-06-6391-TP	p.P378A	C	TAGTCTTAGTCCACTGCACAC	NM_003159	NP_003150	18622176	O76039	CDKL5_HUMAN	0			12	1385	+	G	G	Hepatocellular(33;0.183)		Missense_Mutation	378						
CDKL5	0	broad.mit.edu	GRCh37	X	18627018	18627018	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379989.3:c.2032C>T	p.Arg678Cys	p.R678C	ENST00000379989	NM_001037343.1	678	Cgc/Tgc	0			1			T	R/C	uc004cym.2	protein_coding	YES	CCDS14186.1			2032/3093									ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	c.(2032-2034)CGC>TGC				cyclin-dependent kinase-like 5				ENSP00000369325		14/22	8.24E-06			0.000155					rs753899592,COSM3406212	14/22	.		ENST00000379989	Transcript	1		neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	ENSG00000008086	g.chrX:18627018C>T	11411			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=CDKL5_HUMAN&rb=361&re=765&var=R678C	NA	getma.org/?cm=var&var=hg19,X,18627018,C,T&fts=all	R678C	--	--	1																																		CDKL5_uc004cyn.2_Missense_Mutation_p.R678C	0,1	1		possibly_damaging(0.876)	p.R678C	NM_003159	NP_003150		deleterious_low_confidence(0)	0,1	CDKL5_HUMAN	CDKL5	HGNC	O76039	CDKL5_HUMAN					13	2285	+	Hepatocellular(33;0.183)		UPI0000136103	678					SNV	CDKL5,missense_variant,p.Arg678Cys,ENST00000379989,NM_001037343.1;CDKL5,missense_variant,p.Arg678Cys,ENST00000379996,NM_003159.2;CDKL5,non_coding_transcript_exon_variant,,ENST00000463994,;	uc004cym.2	c.2032C>T	2317/3459	2	2			c.2032C>T						23	SNP	c.(2032-2034)CGC>TGC	33	33			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Broad	cyclin-dependent kinase-like 5			18627018		0.433	ENSG00000008086	3099	g.chrX:18627018C>T	neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			244			244	109.179248	KEEP	24	22	-1	63	73	24	22	-1	117.174533	63	73	0.264151	1	0	0	0	0	1	0	0	0	--	--		0	T			CDKL5_uc004cyn.2_Missense_Mutation_p.R678C	269	GBM-76-4929-TP	p.R678C	C	CTTCCATACACGCCAGAAGTC	NM_003159	NP_003150	18627018	O76039	CDKL5_HUMAN	0			13	2285	+	T	T	Hepatocellular(33;0.183)		Missense_Mutation	678						
CDKL5	6792		GRCh37	X	18622187	18622187	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000379989.3:c.1143C>A	p.Thr381=	p.T381=	ENST00000379989	NM_001037343.1	381	acC/acA	0																																																																																																																																																																																																																																												
CDKL5	6792		GRCh37	X	18664128	18664128	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000379989.3:c.2715C>T		p.X905_splice	ENST00000379989	NM_001037343.1	905	gaC/gaT	0																																																																																																																																																																																																																																												
CDKN1A	1026	broad.mit.edu	GRCh37	6	36652137	36652137	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2558-01	TCGA-06-2558-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000244741.5:c.259G>A	p.Asp87Asn	p.D87N	ENST00000244741	NM_000389.4	87	Gat/Aat	0			1			A	D/N	uc003omm.3	protein_coding		CCDS4824.1			259/495									ovary(1)|breast(1)	2	c.(259-261)GAT>AAT			Gene3D:1jsuC00,hmmpanther:PTHR10265:SF16,hmmpanther:PTHR10265,Low_complexity_(Seg):seg	cyclin-dependent kinase inhibitor 1A				ENSP00000244741		3-Feb									COSM2152584,COSM3411038	3-Feb	.	Multiple_Endocrine_Neoplasia_type_1	ENST00000244741	Transcript	1		cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	ENSG00000124762	g.chr6:36652137G>A	1784			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=CDN1A_HUMAN&rb=70&re=164&var=D87N	NA	getma.org/?cm=var&var=hg19,6,36652137,G,A&fts=all	D87N	--	--	1																																		CDKN1A_uc011dtq.1_Missense_Mutation_p.D121N|CDKN1A_uc003oml.2_Missense_Mutation_p.D87N|CDKN1A_uc003omn.2_Missense_Mutation_p.D87N	1,1			benign(0.402)	p.D87N	NM_000389	NP_000380		tolerated(0.11)	1,1	CDN1A_HUMAN	CDKN1A	HGNC	P38936	CDN1A_HUMAN					2	381	+			UPI0000048F7B	87					SNV	CDKN1A,missense_variant,p.Asp87Asn,ENST00000405375,NM_001220778.1;CDKN1A,missense_variant,p.Asp87Asn,ENST00000244741,NM_000389.4,NM_001220777.1,NM_078467.2;CDKN1A,missense_variant,p.Asp121Asn,ENST00000448526,;CDKN1A,missense_variant,p.Asp87Asn,ENST00000373711,;CDKN1A,non_coding_transcript_exon_variant,,ENST00000478800,;CDKN1A,non_coding_transcript_exon_variant,,ENST00000459970,;CDKN1A,downstream_gene_variant,,ENST00000462537,;	uc003omm.3	c.259G>A	405/2180	1	1			c.259G>A						6	SNP	c.(259-261)GAT>AAT	58	58			ovary(1)|breast(1)	2	Broad	cyclin-dependent kinase inhibitor 1A			36652137	Multiple_Endocrine_Neoplasia_type_1	0.657	ENSG00000124762	3100	g.chr6:36652137G>A	cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			54			54	45.181766	KEEP	4	13	-1	10	17	4	13	-1	45.706506	10	17	0.380952	1	0	0	0	0	1	0	0	0	--	--		0	A			CDKN1A_uc011dtq.1_Missense_Mutation_p.D121N|CDKN1A_uc003oml.2_Missense_Mutation_p.D87N|CDKN1A_uc003omn.2_Missense_Mutation_p.D87N	82	GBM-06-2558-TP	p.D87N	G	GCGAGGCCGGGATGAGTTGGG	NM_000389	NP_000380	36652137	P38936	CDN1A_HUMAN	0			2	381	+	A	A			Missense_Mutation	87						
CDKN2A	1029	broad.mit.edu	GRCh37	9	21971124	21971125	+	frameshift_variant	Frame_Shift_Del	DEL	GA	GA	-			TCGA-06-2557-01	TCGA-06-2557-01	GA	GA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304494.5:c.233_234del	p.Leu78HisfsTer41	p.L78Hfs*41	ENST00000304494	NM_000077.4	78	cTC/c	0			1			-	L/X	uc003zpk.2	protein_coding		CCDS6510.1		17	233-234/471								p.0?(1112)|p.L78fs*41(17)|p.?(13)|p.E61_L94del(1)|p.L78fs*68(1)|p.A76fs*64(1)|p.T79fs*41(1)|p.L65fs*38(1)|p.L78fs*67(1)|p.A68fs*3(1)|p.L78H(1)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	c.(232-234)CTCfs			PROSITE_profiles:PS50297,hmmpanther:PTHR24144:SF30,hmmpanther:PTHR24144,Gene3D:1.25.40.20,Pfam_domain:PF12796,Superfamily_domains:SSF48403	cyclin-dependent kinase inhibitor 2A isoform 1				ENSP00000307101		3-Feb									COSM12518,COSM128615,COSM128616	3-Feb	.	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	ENST00000304494	Transcript	1		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	ENSG00000147889	g.chr9:21971124_21971125delGA	1787			HIGH								--	--	1				HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																														MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Frame_Shift_Del_p.S133fs	1,1,1				p.L78fs	NM_000077	NP_000068			1,1,1	CD2A1_HUMAN	CDKN2A	HGNC	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	Q9UPB7_HUMAN,K7PML8_HUMAN		2	445_446	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	UPI0000047FDA	78			ANK 3.		deletion	CDKN2A,frameshift_variant,p.His93ProfsTer67,ENST00000579755,;CDKN2A,frameshift_variant,p.Leu78HisfsTer41,ENST00000304494,NM_000077.4;CDKN2A,frameshift_variant,p.His134ProfsTer67,ENST00000361570,NM_058195.3;CDKN2A,frameshift_variant,p.Leu27HisfsTer41,ENST00000494262,;CDKN2A,frameshift_variant,p.Leu27HisfsTer41,ENST00000498628,;CDKN2A,frameshift_variant,p.Leu78HisfsTer41,ENST00000498124,NM_001195132.1;CDKN2A,frameshift_variant,p.His93ProfsTer54,ENST00000530628,;CDKN2A,frameshift_variant,p.Leu78HisfsTer41,ENST00000446177,;CDKN2A,frameshift_variant,p.Leu27HisfsTer41,ENST00000578845,;CDKN2A,frameshift_variant,p.Leu78HisfsTer41,ENST00000579122,;CDKN2A,frameshift_variant,p.Leu27HisfsTer41,ENST00000497750,;CDKN2A,frameshift_variant,p.Leu27HisfsTer41,ENST00000479692,;C9orf53,downstream_gene_variant,,ENST00000441769,;CDKN2A,non_coding_transcript_exon_variant,,ENST00000380150,;CDKN2A,upstream_gene_variant,,ENST00000577854,;CDKN2A,3_prime_UTR_variant,,ENST00000380151,;RP11-145E5.5,intron_variant,,ENST00000404796,;	uc003zpk.2	c.233_234delTC	504-505/1218	5	5		17	c.233_234delTC						9	DEL	c.(232-234)CTCfs	57	57		p.0?(1112)|p.L78fs*41(17)|p.?(13)|p.E61_L94del(1)|p.L78fs*68(1)|p.A76fs*64(1)|p.T79fs*41(1)|p.L65fs*38(1)|p.L78fs*67(1)|p.A68fs*3(1)|p.L78H(1)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	Broad	cyclin-dependent kinase inhibitor 2A isoform 1			21971125	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	0.723	ENSG00000147889	3102	g.chr9:21971124_21971125delGA	cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding			76			76														0.55	1	1	0	1	0	0	0	0	0	--	--	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)	0	-			MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Frame_Shift_Del_p.S133fs	81	GBM-06-2557-TP	p.L78fs	GA	CGGGTCGGGTGAGAGTGGCGGG	NM_000077	NP_000068	21971124	P42771	CD2A1_HUMAN	0		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	445_446	-	-	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	Frame_Shift_Del	78			ANK 3.			
CDKN2A	0	broad.mit.edu	GRCh37	9	21971029	21971029	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-32-2638-01	TCGA-32-2638-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304494.5:c.329G>A	p.Trp110Ter	p.W110*	ENST00000304494	NM_000077.4	110	tGg/tAg	0			1			T	W/*	uc003zpk.2	protein_coding		CCDS6510.1		17	329/471								p.0?(1112)|p.W110*(38)|p.?(13)|p.H83fs*2(2)|p.W110fs*9(1)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110fs*36(1)|p.W110C(1)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	c.(328-330)TGG>TAG			PROSITE_profiles:PS50297,hmmpanther:PTHR24144:SF30,hmmpanther:PTHR24144,Gene3D:1.25.40.20,Pfam_domain:PF12796,Superfamily_domains:SSF48403	cyclin-dependent kinase inhibitor 2A isoform 1				ENSP00000307101		3-Feb									COSM12481,COSM126617,COSM126618,COSM3382498	3-Feb	.	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	ENST00000304494	Transcript	1		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	ENSG00000147889	g.chr9:21971029C>T	1787			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,9,21971029,C,T&fts=all	L124L	--	--	1				HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																														MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.L165L	1,1,1,1				p.W110*	NM_000077	NP_000068			1,1,1,1	CD2A1_HUMAN	CDKN2A	HGNC	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	Q9UPB7_HUMAN,K7PML8_HUMAN		2	541	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	UPI0000047FDA	110			ANK 4.		SNV	CDKN2A,stop_gained,p.Trp110Ter,ENST00000304494,NM_000077.4;CDKN2A,stop_gained,p.Trp59Ter,ENST00000494262,;CDKN2A,stop_gained,p.Trp59Ter,ENST00000498628,;CDKN2A,stop_gained,p.Trp110Ter,ENST00000498124,NM_001195132.1;CDKN2A,stop_gained,p.Trp110Ter,ENST00000446177,;CDKN2A,stop_gained,p.Trp59Ter,ENST00000578845,;CDKN2A,stop_gained,p.Trp110Ter,ENST00000579122,;CDKN2A,stop_gained,p.Trp59Ter,ENST00000497750,;CDKN2A,stop_gained,p.Trp59Ter,ENST00000479692,;CDKN2A,synonymous_variant,p.=,ENST00000579755,;CDKN2A,synonymous_variant,p.=,ENST00000361570,NM_058195.3;CDKN2A,synonymous_variant,p.=,ENST00000530628,;C9orf53,downstream_gene_variant,,ENST00000441769,;CDKN2A,non_coding_transcript_exon_variant,,ENST00000380150,;CDKN2A,upstream_gene_variant,,ENST00000577854,;CDKN2A,3_prime_UTR_variant,,ENST00000380151,;RP11-145E5.5,intron_variant,,ENST00000404796,;	uc003zpk.2	c.329G>A	600/1218	5	1		17	c.329G>A						9	SNP	c.(328-330)TGG>TAG	16	16		p.0?(1112)|p.W110*(38)|p.?(13)|p.H83fs*2(2)|p.W110fs*9(1)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110fs*36(1)|p.W110C(1)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	Broad	cyclin-dependent kinase inhibitor 2A isoform 1			21971029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	0.731	ENSG00000147889	3102	g.chr9:21971029C>T	cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding			76			76	38.274247	KEEP	9	6	-1	8	4	9	6	-1	38.310332	8	4	0.541667	1	0	0	0	0	0	1	0	0	--	--	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)	0	T			MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.L165L	242	GBM-32-2638-TP	p.W110*	C	CAGACGGCCCCAGGCATCGCG	NM_000077	NP_000068	21971029	P42771	CD2A1_HUMAN	0		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	541	-	T	T		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	Nonsense_Mutation	110			ANK 4.			
CDKN2AIP	0	broad.mit.edu	GRCh37	4	184367366	184367366	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-4157-01	TCGA-14-4157-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504169.1:c.529A>G	p.Thr177Ala	p.T177A	ENST00000504169	NM_017632.2	177	Acg/Gcg	0			1			G	T/A	uc003ivp.1	protein_coding	YES	CCDS34110.1			529/1743										0	c.(529-531)ACG>GCG			hmmpanther:PTHR16148,hmmpanther:PTHR16148:SF5	CDKN2A interacting protein				ENSP00000427108		3-Mar									COSM3409188	3-Mar	.		ENST00000504169	Transcript			negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding	ENSG00000168564	g.chr4:184367366A>G	24325			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=CARF_HUMAN&rb=131&re=279&var=T177A	NA	getma.org/?cm=var&var=hg19,4,184367366,A,G&fts=all	T177A	--	--	1																																		CDKN2AIP_uc003ivq.1_5'UTR	1	1		unknown(0)	p.T177A	NM_017632	NP_060102		tolerated(0.39)	1	CARF_HUMAN	CDKN2AIP	HGNC	Q9NXV6	CARF_HUMAN		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	B3KTW3_HUMAN		3	691	+		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	UPI000004A077	177			Ser-rich.		SNV	CDKN2AIP,missense_variant,p.Thr177Ala,ENST00000504169,NM_017632.2;CDKN2AIP,3_prime_UTR_variant,,ENST00000302350,;CDKN2AIP,downstream_gene_variant,,ENST00000510928,;CDKN2AIP,non_coding_transcript_exon_variant,,ENST00000506835,;CDKN2AIP,non_coding_transcript_exon_variant,,ENST00000502924,;	uc003ivp.1	c.529A>G	736/2721	3	3			c.529A>G						4	SNP	c.(529-531)ACG>GCG	59	59				0	Broad	CDKN2A interacting protein			184367366		0.473	ENSG00000168564	3103	g.chr4:184367366A>G	negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding							230.813825	KEEP	36	32	-1	39	46	36	32	-1	231.205407	39	46	0.443662	1	0	0	0	0	1	0	0	0	--	--		0	G			CDKN2AIP_uc003ivq.1_5'UTR	152	GBM-14-4157-TP	p.T177A	A	AAACAGTTCAACGTGTATAGG	NM_017632	NP_060102	184367366	Q9NXV6	CARF_HUMAN	0		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	3	691	+	G	G		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	Missense_Mutation	177			Ser-rich.			
CDKN2B	0	broad.mit.edu	GRCh37	9	22006068	22006068	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-28-5218-01	TCGA-28-5218-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276925.6:c.335G>T	p.Trp112Leu	p.W112L	ENST00000276925	NM_004936.3	112	tGg/tTg	0			1			A	W/L	uc003zpo.2	protein_coding	YES	CCDS6512.1			335/417									lung(1)	1	c.(334-336)TGG>TTG			PROSITE_profiles:PS50297,hmmpanther:PTHR24144:SF31,hmmpanther:PTHR24144,Pfam_domain:PF12796,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	cyclin-dependent kinase inhibitor 2B isoform 1				ENSP00000276925		2-Feb									COSM3413565	2-Feb	.	Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System	ENST00000276925	Transcript	1		cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	ENSG00000147883	g.chr9:22006068C>A	1788			MODERATE		-0.145	neutral	getma.org/?cm=msa&ty=f&p=CDN2B_HUMAN&rb=50&re=138&var=W112L	getma.org/pdb.php?prot=CDN2B_HUMAN&from=50&to=138&var=W112L	getma.org/?cm=var&var=hg19,9,22006068,C,A&fts=all	W112L	--	--	1																																		MTAP_uc003zpi.1_Intron|CDKN2BAS_uc010miw.1_Intron|CDKN2BAS_uc010mix.1_Intron|CDKN2BAS_uc003zpm.2_Intron|CDKN2B_uc003zpn.2_3'UTR	1	1		benign(0.01)	p.W112L	NM_004936	NP_004927		tolerated(0.72)	1	CDN2B_HUMAN	CDKN2B	HGNC	P42772	CDN2B_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)	Q9UM95_HUMAN,K7PPU3_HUMAN		2	695	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)	UPI000012743C	112			ANK 4.		SNV	CDKN2B,missense_variant,p.Trp112Leu,ENST00000276925,NM_004936.3,NM_078487.2;CDKN2B,3_prime_UTR_variant,,ENST00000380142,;CDKN2B,downstream_gene_variant,,ENST00000539462,;CDKN2B-AS1,intron_variant,,ENST00000428597,;CDKN2B-AS1,intron_variant,,ENST00000584351,;CDKN2B-AS1,intron_variant,,ENST00000580576,;CDKN2B-AS1,intron_variant,,ENST00000585267,;CDKN2B-AS1,intron_variant,,ENST00000582072,;CDKN2B-AS1,intron_variant,,ENST00000580467,;CDKN2B-AS1,intron_variant,,ENST00000581051,;CDKN2B-AS1,intron_variant,,ENST00000577551,;CDKN2B-AS1,intron_variant,,ENST00000582301,;CDKN2B-AS1,intron_variant,,ENST00000584637,;CDKN2B-AS1,intron_variant,,ENST00000583719,;CDKN2B-AS1,intron_variant,,ENST00000584020,;CDKN2B-AS1,intron_variant,,ENST00000455933,;CDKN2B-AS1,intron_variant,,ENST00000468603,;CDKN2B-AS1,intron_variant,,ENST00000584816,;CDKN2B,non_coding_transcript_exon_variant,,ENST00000579591,;RP11-145E5.5,intron_variant,,ENST00000404796,;	uc003zpo.2	c.335G>T	745/3911	1	1			c.335G>T						9	SNP	c.(334-336)TGG>TTG	62	62			lung(1)	1	Broad	cyclin-dependent kinase inhibitor 2B isoform 1			22006068	Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System	0.726	ENSG00000147883	3105	g.chr9:22006068C>A	cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding			1			1	72.234649	KEEP	8	16	0.666666667	6	6	8	16	0.666666667	73.376781	6	6	0.69697	1	0	0	0	0	1	0	0	0	--	--		0	A			MTAP_uc003zpi.1_Intron|CDKN2BAS_uc010miw.1_Intron|CDKN2BAS_uc010mix.1_Intron|CDKN2BAS_uc003zpm.2_Intron|CDKN2B_uc003zpn.2_3'UTR	224	GBM-28-5218-TP	p.W112L	C	CAGACGACCCCAGGCATCGCG	NM_004936	NP_004927	22006068	P42772	CDN2B_HUMAN	0		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)	2	695	-	A	A		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)	Missense_Mutation	112			ANK 4.			
CDKN2C	1031	broad.mit.edu	GRCh37	1	51439609	51439610	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-02-2486-01	TCGA-02-2486-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262662.1:c.175dup	p.Arg59LysfsTer4	p.R59Kfs*4	ENST00000262662		58	-/A	0			1			A	-/X	uc001csf.2	protein_coding	YES	CCDS555.1			174-175/507	D				glioma|MM			p.0?(4)|p.?(1)	central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(5)|ovary(2)|thyroid(1)|lung(1)|kidney(1)	17	c.(172-177)CTTAGAfs			Superfamily_domains:SSF48403,SMART_domains:SM00248,Pfam_domain:PF12796,hmmpanther:PTHR24148:SF0,hmmpanther:PTHR24148,PROSITE_profiles:PS50297	cyclin-dependent kinase inhibitor 2C				ENSP00000262662		4-Apr										4-Apr	.	Multiple_Endocrine_Neoplasia_type_1	ENST00000262662	Transcript	1		cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	ENSG00000123080	g.chr1:51439609_51439610insA	1789	1		HIGH								--	--	1																																		CDKN2C_uc001csg.2_Frame_Shift_Ins_p.L58fs		1			p.L58fs	NM_001262	NP_001253				CDN2C_HUMAN	CDKN2C	HGNC	P42773	CDN2C_HUMAN		GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)	Q9P1T2_HUMAN,Q6ICV4_HUMAN		3	1390_1391	+			UPI0000047FD9	58_59			ANK 2.		insertion	CDKN2C,frameshift_variant,p.Arg59LysfsTer4,ENST00000262662,;CDKN2C,frameshift_variant,p.Arg59LysfsTer4,ENST00000396148,NM_001262.2;CDKN2C,frameshift_variant,p.Arg59LysfsTer4,ENST00000371761,NM_078626.2;	uc001csf.2	c.174_175insA	2208-2209/2904	5	5			c.174_175insA	D				glioma|MM	1	INS	c.(172-177)CTTAGAfs	24	24		p.0?(4)|p.?(1)	central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(5)|ovary(2)|thyroid(1)|lung(1)|kidney(1)	17	Broad	cyclin-dependent kinase inhibitor 2C			51439610	Multiple_Endocrine_Neoplasia_type_1	0.441	ENSG00000123080	3106	g.chr1:51439609_51439610insA	cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	Melanoma(47;50 1155 4767 22863 47597)		40	Melanoma(47;50 1155 4767 22863 47597)		40														0.51	1	0	0	1	1	0	0	0	0	--	--		0	A			CDKN2C_uc001csg.2_Frame_Shift_Ins_p.L58fs	8	GBM-02-2486-TP	p.L58fs	-	GACTGCTACTTAGAGGTGCTAA	NM_001262	NP_001253	51439609	P42773	CDN2C_HUMAN	0		GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)	3	1390_1391	+	A	A			Frame_Shift_Ins	58_59			ANK 2.			
CDKN2C	1031	broad.mit.edu	GRCh37	1	51436083	51436083	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0646-01	TCGA-06-0646-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262662.1:c.43del	p.Arg15GlyfsTer4	p.R15Gfs*4	ENST00000262662		15	Agg/gg	0			1			-	R/X	uc001csf.2	protein_coding	YES	CCDS555.1			43/507	D				glioma|MM			p.0?(4)|p.R15fs*4(1)	central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(5)|ovary(2)|thyroid(1)|lung(1)|kidney(1)	17	c.(43-45)AGGfs			Superfamily_domains:SSF48403,Pfam_domain:PF13637,Gene3D:1.25.40.20,hmmpanther:PTHR24148:SF0,hmmpanther:PTHR24148,PROSITE_profiles:PS50297	cyclin-dependent kinase inhibitor 2C				ENSP00000262662		4-Mar									COSM43099	4-Mar	.	Multiple_Endocrine_Neoplasia_type_1	ENST00000262662	Transcript	1		cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	ENSG00000123080	g.chr1:51436083delA	1789			HIGH								--	--	1																																		CDKN2C_uc001csg.2_Frame_Shift_Del_p.R15fs	1	1			p.R15fs	NM_001262	NP_001253			1	CDN2C_HUMAN	CDKN2C	HGNC	P42773	CDN2C_HUMAN		GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)	Q9P1T2_HUMAN,Q6ICV4_HUMAN		2	1259	+			UPI0000047FD9	15			ANK 1.		deletion	CDKN2C,frameshift_variant,p.Arg15GlyfsTer4,ENST00000262662,;CDKN2C,frameshift_variant,p.Arg15GlyfsTer4,ENST00000396148,NM_001262.2;CDKN2C,frameshift_variant,p.Arg15GlyfsTer4,ENST00000371761,NM_078626.2;	uc001csf.2	c.43delA	2077/2904	5	5			c.43delA	D				glioma|MM	1	DEL	c.(43-45)AGGfs	35	35		p.0?(4)|p.R15fs*4(1)	central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(5)|ovary(2)|thyroid(1)|lung(1)|kidney(1)	17	Broad	cyclin-dependent kinase inhibitor 2C			51436083	Multiple_Endocrine_Neoplasia_type_1	0.468	ENSG00000123080	3106	g.chr1:51436083delA	cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	Melanoma(47;50 1155 4767 22863 47597)	p.R15fs(EN-Tumor)	40	Melanoma(47;50 1155 4767 22863 47597)	p.R15fs(EN-Tumor)	40														0.6	1	1	0	1	0	0	0	0	0	--	--		0	-			CDKN2C_uc001csg.2_Frame_Shift_Del_p.R15fs	60	GBM-06-0646-TP	p.R15fs	A	CGCAGCTGCCAGGGGGGACCT	NM_001262	NP_001253	51436083	P42773	CDN2C_HUMAN	0		GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)	2	1259	+	-	-			Frame_Shift_Del	15			ANK 1.			
CDKN2C	0	broad.mit.edu	GRCh37	1	51439583	51439583	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-28-1753-01	TCGA-28-1753-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262662.1:c.150delC	p.Glu51ArgfsTer15	p.E51Rfs*15	ENST00000262662		50	Ccc/cc	0			1			-	P/X	uc001csf.2	protein_coding	YES	CCDS555.1			148/507	D				glioma|MM			p.0?(4)|p.?(1)	central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(5)|ovary(2)|thyroid(1)|lung(1)|kidney(1)	17	c.(148-150)CCCfs			Superfamily_domains:SSF48403,SMART_domains:SM00248,Pfam_domain:PF12796,Gene3D:1.25.40.20,hmmpanther:PTHR24148:SF0,hmmpanther:PTHR24148,PROSITE_profiles:PS50297	cyclin-dependent kinase inhibitor 2C				ENSP00000262662		4-Apr										4-Apr	.	Multiple_Endocrine_Neoplasia_type_1	ENST00000262662	Transcript	1		cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	ENSG00000123080	g.chr1:51439583delC	1789	2		HIGH								--	--	1																																		CDKN2C_uc001csg.2_Frame_Shift_Del_p.P50fs		1			p.P50fs	NM_001262	NP_001253				CDN2C_HUMAN	CDKN2C	HGNC	P42773	CDN2C_HUMAN		GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)	Q9P1T2_HUMAN,Q6ICV4_HUMAN		3	1364	+			UPI0000047FD9	50			ANK 2.		deletion	CDKN2C,frameshift_variant,p.Glu51ArgfsTer15,ENST00000262662,;CDKN2C,frameshift_variant,p.Glu51ArgfsTer15,ENST00000396148,NM_001262.2;CDKN2C,frameshift_variant,p.Glu51ArgfsTer15,ENST00000371761,NM_078626.2;	uc001csf.2	c.148delC	2182/2904	5	5			c.148delC	D				glioma|MM	1	DEL	c.(148-150)CCCfs	1	1		p.0?(4)|p.?(1)	central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(5)|ovary(2)|thyroid(1)|lung(1)|kidney(1)	17	Broad	cyclin-dependent kinase inhibitor 2C			51439583	Multiple_Endocrine_Neoplasia_type_1	0.428	ENSG00000123080	3106	g.chr1:51439583delC	cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	Melanoma(47;50 1155 4767 22863 47597)		40	Melanoma(47;50 1155 4767 22863 47597)		40														0.31	1	1	0	1	0	0	0	0	0	--	--		0	-			CDKN2C_uc001csg.2_Frame_Shift_Del_p.P50fs	207	GBM-28-1753-TP	p.P50fs	C	ACTTGGAAATCCCGAGATTGC	NM_001262	NP_001253	51439583	P42773	CDN2C_HUMAN	0		GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)	3	1364	+	-	-			Frame_Shift_Del	50			ANK 2.			
CDKN2D	0	broad.mit.edu	GRCh37	19	10678076	10678076	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2615-01	TCGA-32-2615-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335766.2:c.159C>T	p.Ser53=	p.S53=	ENST00000335766		53	agC/agT	0			1			A	S	uc002mpa.2	protein_coding		CCDS12244.1			159/501										0	c.(157-159)AGC>AGT			PROSITE_profiles:PS50297,hmmpanther:PTHR24148:SF19,hmmpanther:PTHR24148,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	cyclin-dependent kinase inhibitor 2D				ENSP00000337056		3-Mar									COSM3403725	3-Mar	.	Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System	ENST00000335766	Transcript	1		anti-apoptosis|autophagic cell death|cell cycle arrest|DNA synthesis involved in DNA repair|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|negative regulation of caspase activity|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|response to retinoic acid|response to UV|response to vitamin D	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	ENSG00000129355	g.chr19:10678076G>A	1790			LOW								--	--	1																																		KRI1_uc002mox.1_5'Flank|KRI1_uc002moy.1_5'Flank|CDKN2D_uc002mpb.2_Silent_p.S53S	1				p.S53S	NM_001800	NP_001791			1	CDN2D_HUMAN	CDKN2D	HGNC	P55273	CDN2D_HUMAN	Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)				2	461	-			UPI00001108FC	53			ANK 1.		SNV	CDKN2D,synonymous_variant,p.=,ENST00000393599,NM_001800.3,NM_079421.2;CDKN2D,synonymous_variant,p.=,ENST00000335766,;KRI1,upstream_gene_variant,,ENST00000312962,NM_023008.3;KRI1,upstream_gene_variant,,ENST00000361821,;KRI1,upstream_gene_variant,,ENST00000539027,;KRI1,upstream_gene_variant,,ENST00000543682,;KRI1,upstream_gene_variant,,ENST00000537964,;KRI1,upstream_gene_variant,,ENST00000536689,;KRI1,upstream_gene_variant,,ENST00000478863,;KRI1,upstream_gene_variant,,ENST00000432197,;KRI1,upstream_gene_variant,,ENST00000546063,;KRI1,upstream_gene_variant,,ENST00000544397,;	uc002mpa.2	c.159C>T	287/1086	1	1			c.159C>T						19	SNP	c.(157-159)AGC>AGT	58	58				0	Broad	cyclin-dependent kinase inhibitor 2D			10678076	Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System	0.592	ENSG00000129355	3107	g.chr19:10678076G>A	anti-apoptosis|autophagic cell death|cell cycle arrest|DNA synthesis involved in DNA repair|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|negative regulation of caspase activity|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|response to retinoic acid|response to UV|response to vitamin D	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding			14			14	112.531064	KEEP	33	19	-1	91	77	33	19	-1	123.215482	91	77	0.25	1	0	0	0	0	0	0	1	0	--	--		0	A			KRI1_uc002mox.1_5'Flank|KRI1_uc002moy.1_5'Flank|CDKN2D_uc002mpb.2_Silent_p.S53S	239	GBM-32-2615-TP	p.S53S	G	CGATGGCGGTGCTGCCAAACA	NM_001800	NP_001791	10678076	P55273	CDN2D_HUMAN	0	Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)		2	461	-	A	A			Silent	53			ANK 1.			
CDON	0	broad.mit.edu	GRCh37	11	125853903	125853903	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs139149075		TCGA-28-5211-01	TCGA-28-5211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392693.3:c.2859delG	p.Pro954LeufsTer14	p.P954Lfs*14	ENST00000392693	NM_001243597.1	953	ggG/gg	0			1			-	G/X	uc009zbw.2	protein_coding	YES	CCDS58192.1			2859/3864									ovary(3)|skin(2)|breast(1)	6	c.(2857-2859)GGGfs			hmmpanther:PTHR10489:SF12,hmmpanther:PTHR10489	surface glycoprotein, Ig superfamily member				ENSP00000376458		16/20										16/20	.		ENST00000392693	Transcript	1		cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	ENSG00000064309	g.chr11:125853903delC	17104			HIGH								--	--	1																																		CDON_uc001qdb.3_Frame_Shift_Del_p.G330fs|CDON_uc001qdc.3_Frame_Shift_Del_p.G953fs		1			p.G953fs	NM_016952	NP_058648				CDON_HUMAN	CDON	HGNC	Q4KMG0	CDON_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	E9PRD8_HUMAN,E9PPQ7_HUMAN,E9PNF2_HUMAN		16	2987	-	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	UPI0000E0013A	953			Extracellular (Potential).		deletion	CDON,frameshift_variant,p.Pro954LeufsTer14,ENST00000392693,NM_001243597.1,NM_016952.4;CDON,frameshift_variant,p.Pro331LeufsTer14,ENST00000531738,;CDON,frameshift_variant,p.Pro954LeufsTer14,ENST00000263577,;	uc009zbw.2	c.2859delG	2987/9138	5	5			c.2859delG						11	DEL	c.(2857-2859)GGGfs	59	59			ovary(3)|skin(2)|breast(1)	6	Broad	surface glycoprotein, Ig superfamily member			125853903		0.463	ENSG00000064309	3111	g.chr11:125853903delC	cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding																				0.22	1	1	0	1	0	0	0	0	0	--	--		0	-			CDON_uc001qdb.3_Frame_Shift_Del_p.G330fs|CDON_uc001qdc.3_Frame_Shift_Del_p.G953fs	219	GBM-28-5211-TP	p.G953fs	C	TGGTTGCAGGCCCCACATTTC	NM_016952	NP_058648	125853903	Q4KMG0	CDON_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	16	2987	-	-	-	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	Frame_Shift_Del	953			Extracellular (Potential).			
CDR2L	0	broad.mit.edu	GRCh37	17	73000053	73000053	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs144796205	byFrequency	TCGA-28-2513-01	TCGA-28-2513-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337231.5:c.1282C>T	p.Arg428Trp	p.R428W	ENST00000337231	NM_014603.2	428	Cgg/Tgg	0	T:0.0002	T:0	1	T:0		T	R/W	uc002jml.3	protein_coding	YES	CCDS11710.2			1282/1398										0	c.(1282-1284)CGG>TGG			hmmpanther:PTHR19232:SF10,hmmpanther:PTHR19232	cerebellar degeneration-related protein 2-like		T:0	T:0.0013	ENSP00000336587	T:0.002	5-May	0.000519	0.000269	0.000129			0.000896		0.000705	rs144796205,COSM3403208	5-May	common_variant		ENST00000337231	Transcript		T:0.0004				ENSG00000109089	g.chr17:73000053C>T	29999			MODERATE		2.3	medium	getma.org/?cm=msa&ty=f&p=CDR2L_HUMAN&rb=1&re=463&var=R428W	NA	getma.org/?cm=var&var=hg19,17,73000053,C,T&fts=all	R428W	--	--	1																																			0,1	1		probably_damaging(1)	p.R428W	NM_014603	NP_055418	T:0	deleterious(0.02)	0,1	CDR2L_HUMAN	CDR2L	HGNC	Q86X02	CDR2L_HUMAN					5	1694	+	all_lung(278;0.226)		UPI00005AE46D	428					SNV	CDR2L,missense_variant,p.Arg428Trp,ENST00000337231,NM_014603.2;	uc002jml.3	c.1282C>T	1694/3536	2	2			c.1282C>T						17	SNP	c.(1282-1284)CGG>TGG	29	29				0	Broad	cerebellar degeneration-related protein 2-like			73000053		0.612	ENSG00000109089	3114	g.chr17:73000053C>T										13.380033	KEEP	3	3	-1	8	7	3	3	-1	13.874901	8	7	0.3125	1	0	0	0	0	1	0	0	0	--	--		0	T				213	GBM-28-2513-TP	p.R428W	C	CGTGGACAAGCGGCTGGAACA	NM_014603	NP_055418	73000053	Q86X02	CDR2L_HUMAN	0			5	1694	+	T	T	all_lung(278;0.226)		Missense_Mutation	428						
CDRT15	0	broad.mit.edu	GRCh37	17	14140072	14140072	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs147270904	byFrequency	TCGA-27-1833-01	TCGA-27-1833-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000420162.2:c.79C>T	p.Arg27Ter	p.R27*	ENST00000420162	NM_001007530.1	27	Cga/Tga	0	A:0.0014	A:0.0038	1	A:0		A	R/*	uc010vvu.1	protein_coding	YES	CCDS32569.1			79/567										0	c.(79-81)CGA>TGA			hmmpanther:PTHR16471,hmmpanther:PTHR16471:SF3,Low_complexity_(Seg):seg	CMT1A duplicated region transcript 15		A:0	A:0	ENSP00000402355	A:0	3-Jan	0.000198	0.00247							rs147270904,COSM559709	3-Jan	common_variant		ENST00000420162	Transcript		A:0.0010				ENSG00000223510	g.chr17:14140072G>A	14395			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,17,14140072,G,A&fts=all	R27*	--	--	1																																		CDRT15_uc010coq.2_RNA	0,1	1			p.R27*	NM_001007530	NP_001007531	A:0		0,1	CDRTF_HUMAN	CDRT15	HGNC	Q96T59	CDRTF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)			1	79	-			UPI00000702CA	27					SNV	CDRT15,stop_gained,p.Arg27Ter,ENST00000420162,NM_001007530.1;CDRT15,missense_variant,p.Pro2Leu,ENST00000431716,;	uc010vvu.1	c.79C>T	95/766	5	1			c.79C>T						17	SNP	c.(79-81)CGA>TGA	51	51				0	Broad	CMT1A duplicated region transcript 15			14140072		0.597	ENSG00000223510	3116	g.chr17:14140072G>A										82.207327	KEEP	19	14	-1	41	20	19	14	-1	83.395096	41	20	0.364865	1	0	0	0	0	0	1	0	0	--	--		0	A			CDRT15_uc010coq.2_RNA	192	GBM-27-1833-TP	p.R27*	G	AGCCTTCTTCGGCATCGTCGG	NM_001007530	NP_001007531	14140072	Q96T59	CDRTF_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	1	79	-	A	A			Nonsense_Mutation	27						
CDRT15	0	broad.mit.edu	GRCh37	17	14139674	14139674	+	synonymous_variant	Silent	SNP	G	G	A	rs141627800		TCGA-32-2494-01	TCGA-32-2494-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000420162.2:c.336C>T	p.Ala112=	p.A112=	ENST00000420162	NM_001007530.1	112	gcC/gcT	0			1			A	A	uc010vvu.1	protein_coding	YES	CCDS32569.1			336/567										0	c.(334-336)GCC>GCT			hmmpanther:PTHR16471,hmmpanther:PTHR16471:SF3,Low_complexity_(Seg):seg	CMT1A duplicated region transcript 15				ENSP00000402355		3-Feb									COSM3402620	3-Feb	.		ENST00000420162	Transcript						ENSG00000223510	g.chr17:14139674G>A	14395			LOW								--	--	1																																		CDRT15_uc010coq.2_RNA	1	1			p.A112A	NM_001007530	NP_001007531			1	CDRTF_HUMAN	CDRT15	HGNC	Q96T59	CDRTF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)			2	336	-			UPI00000702CA	112					SNV	CDRT15,synonymous_variant,p.=,ENST00000420162,NM_001007530.1;CDRT15,synonymous_variant,p.=,ENST00000431716,;	uc010vvu.1	c.336C>T	352/766	1	1			c.336C>T						17	SNP	c.(334-336)GCC>GCT	60	60				0	Broad	CMT1A duplicated region transcript 15			14139674		0.607	ENSG00000223510	3116	g.chr17:14139674G>A										14.128435	KEEP	3	9	-1	35	36	3	9	-1	22.580769	35	36	0.136364	1	0	0	0	0	0	0	1	0	--	--		0	A			CDRT15_uc010coq.2_RNA	236	GBM-32-2494-TP	p.A112A	G	TCTCTGGAGGGGCCTCTTCCC	NM_001007530	NP_001007531	14139674	Q96T59	CDRTF_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	336	-	A	A			Silent	112						
CDX2	0	broad.mit.edu	GRCh37	13	28537311	28537311	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-0740-01	TCGA-14-0740-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381020.7:c.883T>C	p.Ser295Pro	p.S295P	ENST00000381020	NM_001265.4	295	Tct/Cct	0			1			G	S/P	uc001urv.2	protein_coding	YES	CCDS9328.1			883/942	T		ETV6		AML				lung(1)	1	c.(883-885)TCT>CCT			Low_complexity_(Seg):seg,hmmpanther:PTHR24332:SF12,hmmpanther:PTHR24332	caudal type homeobox 2				ENSP00000370408		3-Mar									COSM3399303	3-Mar	.		ENST00000381020	Transcript			organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000165556	g.chr13:28537311A>G	1806			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=CDX2_HUMAN&rb=244&re=313&var=S295P	NA	getma.org/?cm=var&var=hg19,13,28537311,A,G&fts=all	S295P	--	--	1																																			1	1		unknown(0)	p.S295P	NM_001265	NP_001256		tolerated_low_confidence(0.4)	1	CDX2_HUMAN	CDX2	HGNC	Q99626	CDX2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)			3	1057	-	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	UPI000013E4C8	295					SNV	CDX2,missense_variant,p.Ser295Pro,ENST00000381020,NM_001265.4;CDX2,non_coding_transcript_exon_variant,,ENST00000548877,;	uc001urv.2	c.883T>C	3016/4053	4	4			c.883T>C	T		ETV6		AML	13	SNP	c.(883-885)TCT>CCT	32	32			lung(1)	1	Broad	caudal type homeobox 2			28537311		0.657	ENSG00000165556	3124	g.chr13:28537311A>G	organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			130			130	51.229274	KEEP	9	8	-1	10	10	9	8	-1	51.287354	10	10	0.454545	1	0	0	0	0	1	0	0	0	--	--		0	G				132	GBM-14-0740-TP	p.S295P	A	CCAGGGACAGAGCCAGGCACT	NM_001265	NP_001256	28537311	Q99626	CDX2_HUMAN	0	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)	3	1057	-	G	G	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Missense_Mutation	295						
CDX4	0	broad.mit.edu	GRCh37	X	72674301	72674301	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373514.2:c.735G>A	p.Ser245=	p.S245=	ENST00000373514	NM_005193.1	245	tcG/tcA	0			1			A	S	uc011mqk.1	protein_coding	YES	CCDS14424.1			735/855										0	c.(733-735)TCG>TCA			hmmpanther:PTHR24332,hmmpanther:PTHR24332:SF13	caudal type homeobox 4				ENSP00000362613		3-Mar									COSM2156103	3-Mar	.		ENST00000373514	Transcript				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000131264	g.chrX:72674301G>A	1808			LOW								--	--	1																																			1	1			p.S245S	NM_005193	NP_005184			1	CDX4_HUMAN	CDX4	HGNC	O14627	CDX4_HUMAN					3	735	+	Renal(35;0.156)		UPI0000127473	245					SNV	CDX4,synonymous_variant,p.=,ENST00000373514,NM_005193.1;	uc011mqk.1	c.735G>A	735/1515	1	1			c.735G>A						23	SNP	c.(733-735)TCG>TCA	53	53				0	Broad	caudal type homeobox 4			72674301		0.448	ENSG00000131264	3125	g.chrX:72674301G>A		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							36.261616	KEEP	4	11	-1	6	15	4	11	-1	36.370488	6	15	0.428571	1	0	0	0	0	0	0	1	0	--	--		0	A				160	GBM-19-1790-TP	p.S245S	G	GTGGAGGCTCGGTGCAAAGTG	NM_005193	NP_005184	72674301	O14627	CDX4_HUMAN	0			3	735	+	A	A	Renal(35;0.156)		Silent	245						
CDX4	0	broad.mit.edu	GRCh37	X	72667161	72667161	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-2513-01	TCGA-28-2513-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373514.2:c.72C>T	p.Asp24=	p.D24=	ENST00000373514	NM_005193.1	24	gaC/gaT	0			1			T	D	uc011mqk.1	protein_coding	YES	CCDS14424.1			72/855										0	c.(70-72)GAC>GAT			Low_complexity_(Seg):seg,hmmpanther:PTHR24332,hmmpanther:PTHR24332:SF13,Pfam_domain:PF04731	caudal type homeobox 4				ENSP00000362613		3-Jan	1.65E-05					2.13E-05			rs775744896,COSM3406588	3-Jan	.		ENST00000373514	Transcript				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000131264	g.chrX:72667161C>T	1808			LOW								--	--	1																																			0,1	1			p.D24D	NM_005193	NP_005184			0,1	CDX4_HUMAN	CDX4	HGNC	O14627	CDX4_HUMAN					1	72	+	Renal(35;0.156)		UPI0000127473	24					SNV	CDX4,synonymous_variant,p.=,ENST00000373514,NM_005193.1;	uc011mqk.1	c.72C>T	72/1515	2	2			c.72C>T						23	SNP	c.(70-72)GAC>GAT	18	18				0	Broad	caudal type homeobox 4			72667161		0.612	ENSG00000131264	3125	g.chrX:72667161C>T		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							8.42032	KEEP	8	4	-1	44	45	8	4	-1	21.780658	44	45	0.104651	1	0	0	0	0	0	0	1	0	--	--		0	T				213	GBM-28-2513-TP	p.D24D	C	CTGGGGGCGACGGCACAGCTG	NM_005193	NP_005184	72667161	O14627	CDX4_HUMAN	0			1	72	+	T	T	Renal(35;0.156)		Silent	24						
CDYL2	124359	broad.mit.edu	GRCh37	16	80646527	80646527	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs145890469		TCGA-06-0125-01	TCGA-06-0125-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000570137.2:c.1214C>T	p.Ala405Val	p.A405V	ENST00000570137	NM_152342.2	405	gCg/gTg	0	A:0.0002		1			A	A/V	uc002ffs.2	protein_coding	YES	CCDS32493.1			1214/1521									central_nervous_system(1)	1	c.(1213-1215)GCG>GTG			Gene3D:3.90.226.10,Pfam_domain:PF00378,hmmpanther:PTHR11941,hmmpanther:PTHR11941:SF52,Superfamily_domains:SSF52096	chromodomain protein, Y-like 2			A:0.0001	ENSP00000476295		7-May	5.77E-05	9.74E-05		0.000232		6.14E-05			rs145890469,COSM2149335	7-May	.		ENST00000570137	Transcript				nucleus	catalytic activity|protein binding	ENSG00000166446	g.chr16:80646527G>A	23030			MODERATE		2.28	medium	getma.org/?cm=msa&ty=f&p=CDYL2_HUMAN&rb=253&re=501&var=A405V	getma.org/pdb.php?prot=CDYL2_HUMAN&from=253&to=501&var=A405V	getma.org/?cm=var&var=hg19,16,80646527,G,A&fts=all	A405V	--	--	1																																			0,1	1		probably_damaging(0.984)	p.A405V	NM_152342	NP_689555		deleterious(0.01)	0,1	CDYL2_HUMAN	CDYL2	HGNC	Q8N8U2	CDYL2_HUMAN					5	1319	-			UPI00001B2954	405					SNV	CDYL2,missense_variant,p.Ala405Val,ENST00000570137,NM_152342.2;CDYL2,missense_variant,p.Ala406Val,ENST00000562812,;CDYL2,missense_variant,p.Ala406Val,ENST00000566173,;CDYL2,missense_variant,p.Ala406Val,ENST00000563890,;CDYL2,downstream_gene_variant,,ENST00000561616,;	uc002ffs.2	c.1214C>T	1370/8159	2	2			c.1214C>T						16	SNP	c.(1213-1215)GCG>GTG	41	41			central_nervous_system(1)	1	Broad	chromodomain protein, Y-like 2			80646527		0.622	ENSG00000166446	3127	g.chr16:80646527G>A		nucleus	catalytic activity|protein binding							106.049987	KEEP	16	22	-1	30	26	16	22	-1	106.42337	30	26	0.426829	1	0	0	0	0	1	0	0	0	--	--		0	A				12	GBM-06-0125-TP	p.A405V	G	GCTTACCAGCGCGACGCCCAG	NM_152342	NP_689555	80646527	Q8N8U2	CDYL2_HUMAN	0			5	1319	-	A	A			Missense_Mutation	405						
CDYL2	124359	broad.mit.edu	GRCh37	16	80718568	80718568	+	synonymous_variant	Silent	SNP	G	G	A	rs149557557		TCGA-06-0644-01	TCGA-06-0644-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000570137.2:c.483C>T	p.Ala161=	p.A161=	ENST00000570137	NM_152342.2	161	gcC/gcT	0	A:0		1			A	A	uc002ffs.2	protein_coding	YES	CCDS32493.1			483/1521									central_nervous_system(1)	1	c.(481-483)GCC>GCT				chromodomain protein, Y-like 2			A:0.0003	ENSP00000476295		7-Feb	0.000148		0.000173	0.000809		0.00012		6.06E-05	rs149557557,COSM2151193	7-Feb	common_variant		ENST00000570137	Transcript				nucleus	catalytic activity|protein binding	ENSG00000166446	g.chr16:80718568G>A	23030			LOW								--	--	1																																			0,1	1			p.A161A	NM_152342	NP_689555			0,1	CDYL2_HUMAN	CDYL2	HGNC	Q8N8U2	CDYL2_HUMAN					2	588	-			UPI00001B2954	161					SNV	CDYL2,synonymous_variant,p.=,ENST00000570137,NM_152342.2;CDYL2,synonymous_variant,p.=,ENST00000563890,;CDYL2,synonymous_variant,p.=,ENST00000566173,;CDYL2,synonymous_variant,p.=,ENST00000562812,;CDYL2,non_coding_transcript_exon_variant,,ENST00000562753,;	uc002ffs.2	c.483C>T	639/8159	1	1			c.483C>T						16	SNP	c.(481-483)GCC>GCT	61	61			central_nervous_system(1)	1	Broad	chromodomain protein, Y-like 2			80718568		0.512	ENSG00000166446	3127	g.chr16:80718568G>A		nucleus	catalytic activity|protein binding							108.442211	KEEP	29	20	-1	65	87	29	20	-1	120.561499	65	87	0.232432	1	0	0	0	0	0	0	1	0	--	--		0	A				58	GBM-06-0644-TP	p.A161A	G	TCTCAGAGCCGGCGTCCCCAT	NM_152342	NP_689555	80718568	Q8N8U2	CDYL2_HUMAN	0			2	588	-	A	A			Silent	161						
CDYL2	0	broad.mit.edu	GRCh37	16	80718650	80718650	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01	TCGA-26-1439-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000570137.2:c.401C>T	p.Thr134Met	p.T134M	ENST00000570137	NM_152342.2	134	aCg/aTg	0			1			A	T/M	uc002ffs.2	protein_coding	YES	CCDS32493.1			401/1521									central_nervous_system(1)	1	c.(400-402)ACG>ATG				chromodomain protein, Y-like 2				ENSP00000476295		7-Feb	8.24E-06	9.63E-05							rs772092026,COSM2156881	7-Feb	.		ENST00000570137	Transcript				nucleus	catalytic activity|protein binding	ENSG00000166446	g.chr16:80718650G>A	23030			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=CDYL2_HUMAN&rb=58&re=252&var=T134M	NA	getma.org/?cm=var&var=hg19,16,80718650,G,A&fts=all	T134M	--	--	1																																			0,1	1		benign(0.02)	p.T134M	NM_152342	NP_689555		tolerated(0.11)	0,1	CDYL2_HUMAN	CDYL2	HGNC	Q8N8U2	CDYL2_HUMAN					2	506	-			UPI00001B2954	134					SNV	CDYL2,missense_variant,p.Thr134Met,ENST00000570137,NM_152342.2;CDYL2,missense_variant,p.Thr134Met,ENST00000566173,;CDYL2,missense_variant,p.Thr134Met,ENST00000563890,;CDYL2,missense_variant,p.Thr134Met,ENST00000562812,;CDYL2,non_coding_transcript_exon_variant,,ENST00000562753,;	uc002ffs.2	c.401C>T	557/8159	1	1			c.401C>T						16	SNP	c.(400-402)ACG>ATG	59	59			central_nervous_system(1)	1	Broad	chromodomain protein, Y-like 2			80718650		0.537	ENSG00000166446	3127	g.chr16:80718650G>A		nucleus	catalytic activity|protein binding							191.623994	KEEP	38	38	-1	49	50	38	38	-1	192.574357	49	50	0.416667	1	0	0	0	0	1	0	0	0	--	--		0	A				179	GBM-26-1439-TP	p.T134M	G	GTAAGACACCGTCTTGGTGGC	NM_152342	NP_689555	80718650	Q8N8U2	CDYL2_HUMAN	0			2	506	-	A	A			Missense_Mutation	134						
CDYL2	124359		GRCh37	16	80718602	80718602	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000570137.2:c.449A>G	p.Lys150Arg	p.K150R	ENST00000570137	NM_152342.2	150	aAa/aGa	0																																																																																																																																																																																																																																												
CEACAM16	0	broad.mit.edu	GRCh37	19	45208902	45208902	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-12-5295-01	TCGA-12-5295-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000405314.2:c.704G>T	p.Arg235Leu	p.R235L	ENST00000405314		235	cGc/cTc	0			1			T	R/L	uc010xxd.1	protein_coding		CCDS54278.1			704/1278									ovary(1)	1	c.(703-705)CGC>CTC			PROSITE_profiles:PS50835,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF127,SMART_domains:SM00409	carcinoembryonic antigen-related cell adhesion				ENSP00000385576		6-Apr									COSM3404371,COSM3404372	6-Apr	.		ENST00000405314	Transcript	1					ENSG00000213892	g.chr19:45208902G>T	31948			MODERATE		-0.55	neutral	getma.org/?cm=msa&ty=f&p=CEA16_HUMAN&rb=289&re=372&var=R294L	NA	getma.org/?cm=var&var=hg19,19,45208902,G,T&fts=all	R294L	--	--	1																																		CEACAM16_uc002ozq.2_Missense_Mutation_p.R294L	1,1			benign(0.083)	p.R235L	NM_001039213	NP_001034302		tolerated(0.43)	1,1	CEA16_HUMAN	CEACAM16	HGNC	A7LI12	A7LI12_HUMAN					5	910	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)	UPI00001D8176	235					SNV	CEACAM16,missense_variant,p.Arg235Leu,ENST00000587331,NM_001039213.2;CEACAM16,missense_variant,p.Arg235Leu,ENST00000405314,;CTB-171A8.1,intron_variant,,ENST00000590796,;	uc010xxd.1	c.704G>T	801/1583	1	1			c.704G>T						19	SNP	c.(703-705)CGC>CTC	16	16			ovary(1)	1	Broad	carcinoembryonic antigen-related cell adhesion			45208902		0.612	ENSG00000213892	3129	g.chr19:45208902G>T										48.393505	KEEP	7	9	0.4375	13	10	7	9	0.4375	48.490538	13	10	0.444444	1	0	0	0	0	1	0	0	0	--	--		0	T			CEACAM16_uc002ozq.2_Missense_Mutation_p.R294L	129	GBM-12-5295-TP	p.R235L	G	TCCACCACCCGCACAGGCTGC	NM_001039213	NP_001034302	45208902	A7LI12	A7LI12_HUMAN	0			5	910	+	T	T	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)	Missense_Mutation	235						
CEACAM20	125931	broad.mit.edu	GRCh37	19	45029207	45029207	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A			TCGA-06-0152-01	TCGA-06-0152-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000454753.1:n.402C>T		p.*134*	ENST00000454753				0			1			A		uc010ejn.1	processed_transcript	YES													large_intestine(2)	2	c.(121-123)GCC>GCT				carcinoembryonic antigen-related cell adhesion						12-Feb									COSM3404365	12-Feb	.		ENST00000454753	Transcript				integral to membrane		ENSG00000176395	g.chr19:45029207G>A	24879			MODIFIER								--	--	1																																		CEACAM20_uc010ejo.1_Silent_p.A41A|CEACAM20_uc010ejp.1_Silent_p.A41A|CEACAM20_uc010ejq.1_Silent_p.A41A	1	1			p.A41A	NM_001102597	NP_001096067			1		CEACAM20	HGNC	Q6UY09	CEA20_HUMAN					2	139	-		Prostate(69;0.0352)		41			Extracellular (Potential).		SNV	CEACAM20,non_coding_transcript_exon_variant,,ENST00000454753,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000316962,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000431738,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000445209,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000414638,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000412211,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000448350,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000424903,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000421432,;	uc010ejn.1	c.123C>T	402/2120	2	2			c.123C>T						19	SNP	c.(121-123)GCC>GCT	20	20			large_intestine(2)	2	Broad	carcinoembryonic antigen-related cell adhesion			45029207		0.562	ENSG00000176395	3132	g.chr19:45029207G>A		integral to membrane								-37.26916	KEEP	0	6	-1	104	82	0	6	-1	8.00377	104	82	0.022472	1	0	0	0	0	0	0	1	0	--	--		0	A			CEACAM20_uc010ejo.1_Silent_p.A41A|CEACAM20_uc010ejp.1_Silent_p.A41A|CEACAM20_uc010ejq.1_Silent_p.A41A	25	GBM-06-0152-TP	p.A41A	G	CACTTTGGGTGGCATCAAGTG	NM_001102597	NP_001096067	45029207	Q6UY09	CEA20_HUMAN	0			2	139	-	A	A		Prostate(69;0.0352)	Silent	41			Extracellular (Potential).			
CEACAM20	125931	broad.mit.edu	GRCh37	19	45015149	45015149	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T			TCGA-06-2565-01	TCGA-06-2565-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000454753.1:n.1956C>A		p.*652*	ENST00000454753				0			1			T		uc010ejn.1	processed_transcript	YES													large_intestine(2)	2	c.(1675-1677)CCT>CAT				carcinoembryonic antigen-related cell adhesion						12-Nov									COSM3404361	12-Nov	.		ENST00000454753	Transcript				integral to membrane		ENSG00000176395	g.chr19:45015149G>T	24879			MODIFIER								--	--	1																																		CEACAM20_uc010ejo.1_Missense_Mutation_p.P547H|CEACAM20_uc010ejp.1_Missense_Mutation_p.P466H|CEACAM20_uc010ejq.1_Missense_Mutation_p.P454H	1	1			p.P559H	NM_001102597	NP_001096067			1		CEACAM20	HGNC	Q6UY09	CEA20_HUMAN					12	1692	-		Prostate(69;0.0352)		559			Cytoplasmic (Potential).		SNV	CEACAM20,non_coding_transcript_exon_variant,,ENST00000454753,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000316962,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000431738,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000445209,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000414638,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000412211,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000448350,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000424903,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000421432,;	uc010ejn.1	c.1676C>A	1956/2120	2	2			c.1676C>A						19	SNP	c.(1675-1677)CCT>CAT	43	43			large_intestine(2)	2	Broad	carcinoembryonic antigen-related cell adhesion			45015149		0.507	ENSG00000176395	3132	g.chr19:45015149G>T		integral to membrane								116.624124	KEEP	29	21	0.58	45	61	29	21	0.58	120.298923	45	61	0.320312	1	0	0	0	0	1	0	0	0	--	--		0	T			CEACAM20_uc010ejo.1_Missense_Mutation_p.P547H|CEACAM20_uc010ejp.1_Missense_Mutation_p.P466H|CEACAM20_uc010ejq.1_Missense_Mutation_p.P454H	88	GBM-06-2565-TP	p.P559H	G	GGGCATCAGAGGTTTGGGTGG	NM_001102597	NP_001096067	45015149	Q6UY09	CEA20_HUMAN	0			12	1692	-	T	T		Prostate(69;0.0352)	Missense_Mutation	559			Cytoplasmic (Potential).			
CEACAM20	125931	broad.mit.edu	GRCh37	19	45016954	45016954	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T			TCGA-06-5411-01	TCGA-06-5411-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000454753.1:n.1765G>A		p.*589*	ENST00000454753				0			1			T		uc010ejn.1	processed_transcript	YES													large_intestine(2)	2	c.(1483-1485)AAG>AAA				carcinoembryonic antigen-related cell adhesion						12-Aug									COSM3404362	12-Aug	.		ENST00000454753	Transcript				integral to membrane		ENSG00000176395	g.chr19:45016954C>T	24879			MODIFIER								--	--	1																																OREG0025538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	CEACAM20_uc010ejo.1_Silent_p.K495K|CEACAM20_uc010ejp.1_Silent_p.K402K|CEACAM20_uc010ejq.1_Silent_p.K402K	1	1			p.K495K	NM_001102597	NP_001096067			1		CEACAM20	HGNC	Q6UY09	CEA20_HUMAN					9	1501	-		Prostate(69;0.0352)		495			Cytoplasmic (Potential).		SNV	CEACAM20,non_coding_transcript_exon_variant,,ENST00000454753,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000316962,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000431738,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000445209,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000414638,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000412211,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000448350,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000424903,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000421432,;	uc010ejn.1	c.1485G>A	1765/2120	1	1			c.1485G>A						19	SNP	c.(1483-1485)AAG>AAA	13	13			large_intestine(2)	2	Broad	carcinoembryonic antigen-related cell adhesion			45016954		0.388	ENSG00000176395	3132	g.chr19:45016954C>T		integral to membrane								20.376042	KEEP	5	7	-1	16	25	5	7	-1	24.136504	16	25	0.190476	1	0	0	0	0	0	0	1	0	--	--		0	T	OREG0025538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	CEACAM20_uc010ejo.1_Silent_p.K495K|CEACAM20_uc010ejp.1_Silent_p.K402K|CEACAM20_uc010ejq.1_Silent_p.K402K	94	GBM-06-5411-TP	p.K495K	C	GGTGCTCCTCCTTCGGGATGG	NM_001102597	NP_001096067	45016954	Q6UY09	CEA20_HUMAN	0			9	1501	-	T	T		Prostate(69;0.0352)	Silent	495			Cytoplasmic (Potential).			
CEACAM20	0	broad.mit.edu	GRCh37	19	45021085	45021085	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T			TCGA-28-5216-01	TCGA-28-5216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000454753.1:n.1510G>A		*504*	ENST00000454753				0			1			T		uc010ejn.1	processed_transcript	YES													large_intestine(2)	2	c.(1231-1233)GAC>AAC				carcinoembryonic antigen-related cell adhesion						12-Jun	2.48E-05			0.000503		2.98E-05			rs756391229,COSM3404363	12-Jun	common_variant		ENST00000454753	Transcript				integral to membrane		ENSG00000176395	g.chr19:45021085C>T	24879			MODIFIER								--	--	1																																		CEACAM20_uc010ejo.1_Missense_Mutation_p.D411N|CEACAM20_uc010ejp.1_Intron|CEACAM20_uc010ejq.1_Intron	0,1	1			p.D411N	NM_001102597	NP_001096067			0,1		CEACAM20	HGNC	Q6UY09	CEA20_HUMAN					6	1247	-		Prostate(69;0.0352)		411			Ig-like C2-type 4.|Extracellular (Potential).		SNV	CEACAM20,non_coding_transcript_exon_variant,,ENST00000454753,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000316962,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000431738,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000445209,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000414638,;CEACAM20,non_coding_transcript_exon_variant,,ENST00000412211,;CEACAM20,intron_variant,,ENST00000448350,;CEACAM20,intron_variant,,ENST00000424903,;CEACAM20,intron_variant,,ENST00000421432,;	uc010ejn.1	c.1231G>A	1510/2120	2	2			c.1231G>A						19	SNP	c.(1231-1233)GAC>AAC	17	17			large_intestine(2)	2	Broad	carcinoembryonic antigen-related cell adhesion			45021085		0.592	ENSG00000176395	3132	g.chr19:45021085C>T		integral to membrane								28.047638	KEEP	5	6	-1	5	5	5	6	-1	28.095543	5	5	0.555556	1	0	0	0	0	1	0	0	0	--	--		0	T			CEACAM20_uc010ejo.1_Missense_Mutation_p.D411N|CEACAM20_uc010ejp.1_Intron|CEACAM20_uc010ejq.1_Intron	223	GBM-28-5216-TP	p.D411N	C	TAGATCCCGTCGTGTTCCCAG	NM_001102597	NP_001096067	45021085	Q6UY09	CEA20_HUMAN	0			6	1247	-	T	T		Prostate(69;0.0352)	Missense_Mutation	411			Ig-like C2-type 4.|Extracellular (Potential).			
CEACAM21	90273		GRCh37	19	42083911	42083911	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000401445.2:c.424G>A	p.Glu142Lys	p.E142K	ENST00000401445		142	Gag/Aag	0																																																																																																																																																																																																																																												
CEACAM3	1084	broad.mit.edu	GRCh37	19	42301736	42301736	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0879-01	TCGA-06-0879-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357396.3:c.280G>A	p.Ala94Thr	p.A94T	ENST00000357396	NM_001815.3	94	Gca/Aca	0			1			A	A/T	uc002orn.1	protein_coding	YES	CCDS12586.2			280/759									skin(1)	1	c.(280-282)GCA>ACA			hmmpanther:PTHR19955:SF110,hmmpanther:PTHR19955,Gene3D:2.60.40.10,Pfam_domain:PF07686,Superfamily_domains:SSF48726	carcinoembryonic antigen-related cell adhesion				ENSP00000349971		7-Feb	8.24E-06			0.000116					rs782581482,COSM566241	7-Feb	.		ENST00000357396	Transcript				integral to membrane		ENSG00000170956	g.chr19:42301736G>A	1815			MODERATE		2.645	medium	getma.org/?cm=msa&ty=f&p=CEAM3_HUMAN&rb=3&re=140&var=A94T	getma.org/pdb.php?prot=CEAM3_HUMAN&from=3&to=140&var=A94T	getma.org/?cm=var&var=hg19,19,42301736,G,A&fts=all	A94T	--	--	1																																		CEACAM3_uc010eia.1_Missense_Mutation_p.A94T|CEACAM3_uc002oro.1_RNA	0,1	1		possibly_damaging(0.906)	p.A94T	NM_001815	NP_001806		deleterious(0.03)	0,1	CEAM3_HUMAN	CEACAM3	HGNC	P40198	CEAM3_HUMAN			M0QXR5_HUMAN		2	356	+			UPI000013C7E7	94			Ig-like V-type.|Extracellular (Potential).		SNV	CEACAM3,missense_variant,p.Ala94Thr,ENST00000357396,NM_001815.3;CEACAM3,missense_variant,p.Ala94Thr,ENST00000221999,NM_001277163.1;CEACAM3,missense_variant,p.Ala94Thr,ENST00000344550,;CEACAM3,missense_variant,p.Ala54Thr,ENST00000596544,;CEACAM3,non_coding_transcript_exon_variant,,ENST00000595255,;CEACAM3,missense_variant,p.Ala94Thr,ENST00000415495,;CEACAM3,non_coding_transcript_exon_variant,,ENST00000599305,;	uc002orn.1	c.280G>A	521/1316	2	2			c.280G>A						19	SNP	c.(280-282)GCA>ACA	33	33			skin(1)	1	Broad	carcinoembryonic antigen-related cell adhesion			42301736		0.463	ENSG00000170956	3134	g.chr19:42301736G>A		integral to membrane								-113.799581	KEEP	8	3	-1	250	289	8	3	-1	17.068902	250	289	0.019763	1	0	0	0	0	1	0	0	0	--	--		0	A			CEACAM3_uc010eia.1_Missense_Mutation_p.A94T|CEACAM3_uc002oro.1_RNA	75	GBM-06-0879-TP	p.A94T	G	CCCAGGGGCCGCATACAGCGG	NM_001815	NP_001806	42301736	P40198	CEAM3_HUMAN	0			2	356	+	A	A			Missense_Mutation	94			Ig-like V-type.|Extracellular (Potential).			
CEACAM3	0	broad.mit.edu	GRCh37	19	42301582	42301582	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-87-5896-01	TCGA-87-5896-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357396.3:c.126G>A	p.Pro42=	p.P42=	ENST00000357396	NM_001815.3	42	ccG/ccA	0			1			A	P	uc002orn.1	protein_coding	YES	CCDS12586.2			126/759									skin(1)	1	c.(124-126)CCG>CCA			hmmpanther:PTHR19955:SF110,hmmpanther:PTHR19955,Gene3D:2.60.40.10,Pfam_domain:PF07686,Superfamily_domains:SSF48726	carcinoembryonic antigen-related cell adhesion				ENSP00000349971		7-Feb	8.24E-06							6.06E-05	rs782786265,COSM1129827	7-Feb	.		ENST00000357396	Transcript				integral to membrane		ENSG00000170956	g.chr19:42301582G>A	1815			LOW								--	--	1																																		CEACAM3_uc010eia.1_Silent_p.P42P|CEACAM3_uc002oro.1_RNA	0,1	1			p.P42P	NM_001815	NP_001806			0,1	CEAM3_HUMAN	CEACAM3	HGNC	P40198	CEAM3_HUMAN			M0QXR5_HUMAN		2	202	+			UPI000013C7E7	42			Ig-like V-type.|Extracellular (Potential).		SNV	CEACAM3,synonymous_variant,p.=,ENST00000357396,NM_001815.3;CEACAM3,synonymous_variant,p.=,ENST00000221999,NM_001277163.1;CEACAM3,synonymous_variant,p.=,ENST00000344550,;CEACAM3,synonymous_variant,p.=,ENST00000596544,;CEACAM3,non_coding_transcript_exon_variant,,ENST00000595255,;CEACAM3,synonymous_variant,p.=,ENST00000415495,;CEACAM3,non_coding_transcript_exon_variant,,ENST00000599305,;	uc002orn.1	c.126G>A	367/1316	2	2			c.126G>A						19	SNP	c.(124-126)CCG>CCA	20	20			skin(1)	1	Broad	carcinoembryonic antigen-related cell adhesion			42301582		0.522	ENSG00000170956	3134	g.chr19:42301582G>A		integral to membrane								115.786344	KEEP	21	24	-1	43	60	21	24	-1	120.141858	43	60	0.311594	1	0	0	0	0	0	0	1	0	--	--		0	A			CEACAM3_uc010eia.1_Silent_p.P42P|CEACAM3_uc002oro.1_RNA	291	GBM-87-5896-TP	p.P42P	G	AATCCATGCCGCTCAGTGTCG	NM_001815	NP_001806	42301582	P40198	CEAM3_HUMAN	0			2	202	+	A	A			Silent	42			Ig-like V-type.|Extracellular (Potential).			
CEACAM4	1089	broad.mit.edu	GRCh37	19	42132051	42132051	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0173-01	TCGA-06-0173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221954.2:c.348C>T	p.Asp116=	p.D116=	ENST00000221954	NM_001817.2	116	gaC/gaT	0		A:0.0008	1	A:0		A	D	uc002orh.1	protein_coding	YES	CCDS33033.1			348/735										0	c.(346-348)GAC>GAT			PROSITE_profiles:PS50835,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF111,Pfam_domain:PF07686,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	carcinoembryonic antigen-related cell adhesion		A:0		ENSP00000221954	A:0	7-Feb	0.00014	0.000578				3.03E-05		0.000604	rs199959927,COSM2150367	7-Feb	common_variant		ENST00000221954	Transcript		A:0.0002		integral to plasma membrane|membrane fraction		ENSG00000105352	g.chr19:42132051G>A	1816			LOW								--	--	1																																		CEACAM4_uc010xwd.1_Silent_p.D116D	0,1	1			p.D116D	NM_001817	NP_001808	A:0		0,1	CEAM4_HUMAN	CEACAM4	HGNC	O75871	CEAM4_HUMAN					2	459	-			UPI0000070B54	116			Extracellular (Potential).|Ig-like V-type.		SNV	CEACAM4,synonymous_variant,p.=,ENST00000221954,NM_001817.2;CEACAM4,synonymous_variant,p.=,ENST00000600925,;CEACAM4,non_coding_transcript_exon_variant,,ENST00000472081,;	uc002orh.1	c.348C>T	459/1205	2	2			c.348C>T						19	SNP	c.(346-348)GAC>GAT	29	29				0	Broad	carcinoembryonic antigen-related cell adhesion			42132051		0.522	ENSG00000105352	3135	g.chr19:42132051G>A		integral to plasma membrane|membrane fraction								187.853835	KEEP	39	39	-1	93	90	39	39	-1	195.915012	93	90	0.303419	1	0	0	0	0	0	0	1	0	--	--		0	A			CEACAM4_uc010xwd.1_Silent_p.D116D	36	GBM-06-0173-TP	p.D116D	G	AGGATCCTGCGTCCTCCAGGG	NM_001817	NP_001808	42132051	O75871	CEAM4_HUMAN	0			2	459	-	A	A			Silent	116			Extracellular (Potential).|Ig-like V-type.			
CEACAM4	0	broad.mit.edu	GRCh37	19	42133314	42133314	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-4210-01	TCGA-32-4210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221954.2:c.18C>T	p.Ala6=	p.A6=	ENST00000221954	NM_001817.2	6	gcC/gcT	0			1			A	A	uc002orh.1	protein_coding	YES	CCDS33033.1			18/735										0	c.(16-18)GCC>GCT			hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF111	carcinoembryonic antigen-related cell adhesion				ENSP00000221954		7-Jan	2.47E-05	0.000101						0.000137	rs782500444,COSM3404275	7-Jan	.		ENST00000221954	Transcript				integral to plasma membrane|membrane fraction		ENSG00000105352	g.chr19:42133314G>A	1816			LOW								--	--	1																																		CEACAM4_uc010xwd.1_Silent_p.A6A	0,1	1			p.A6A	NM_001817	NP_001808			0,1	CEAM4_HUMAN	CEACAM4	HGNC	O75871	CEAM4_HUMAN					1	129	-			UPI0000070B54	6					SNV	CEACAM4,synonymous_variant,p.=,ENST00000221954,NM_001817.2;CEACAM4,synonymous_variant,p.=,ENST00000600925,;CEACAM4,non_coding_transcript_exon_variant,,ENST00000472081,;	uc002orh.1	c.18C>T	129/1205	1	1			c.18C>T						19	SNP	c.(16-18)GCC>GCT	56	56				0	Broad	carcinoembryonic antigen-related cell adhesion			42133314		0.652	ENSG00000105352	3135	g.chr19:42133314G>A		integral to plasma membrane|membrane fraction								72.551757	KEEP	9	15	-1	12	11	9	15	-1	72.599366	12	11	0.536585	1	0	0	0	0	0	0	1	0	--	--		0	A			CEACAM4_uc010xwd.1_Silent_p.A6A	245	GBM-32-4210-TP	p.A6A	G	CACGGGGAGCGGCTGAGGGGG	NM_001817	NP_001808	42133314	O75871	CEAM4_HUMAN	0			1	129	-	A	A			Silent	6						
CEACAM5	0	broad.mit.edu	GRCh37	19	42213611	42213611	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-0740-01	TCGA-14-0740-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221992.6:c.77C>A	p.Thr26Asn	p.T26N	ENST00000221992	NM_004363.2	26	aCc/aAc	0			1			A	T/N	uc002ork.2	protein_coding	YES	CCDS12584.1			77/2109									skin(2)	2	c.(76-78)ACC>AAC			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR19955:SF113,hmmpanther:PTHR19955	carcinoembryonic antigen-related cell adhesion				ENSP00000221992		10-Feb	8.24E-06					1.51E-05			rs782259884,COSM3404278	10-Feb	.		ENST00000221992	Transcript				anchored to membrane|basolateral plasma membrane|integral to plasma membrane		ENSG00000105388	g.chr19:42213611C>A	1817			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=CEAM5_HUMAN&rb=2&re=140&var=T26N	NA	getma.org/?cm=var&var=hg19,19,42213611,C,A&fts=all	T26N	--	--	1																																		CEACAM5_uc010ehz.1_Missense_Mutation_p.T26N|CEACAM5_uc002orj.1_Missense_Mutation_p.T26N|CEACAM5_uc002orl.2_Missense_Mutation_p.T26N	0,1	1		possibly_damaging(0.579)	p.T26N	NM_004363	NP_004354		deleterious(0.05)	0,1	CEAM5_HUMAN	CEACAM5	HGNC	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	Q7KZ28_HUMAN,M0QXV9_HUMAN		2	198	+			UPI000013C7E5	26					SNV	CEACAM5,missense_variant,p.Thr26Asn,ENST00000221992,NM_004363.2;CEACAM5,missense_variant,p.Thr26Asn,ENST00000398599,;CEACAM5,missense_variant,p.Thr26Asn,ENST00000405816,;CEA,missense_variant,p.Thr26Asn,ENST00000598976,;CEA,intron_variant,,ENST00000435837,;CEACAM5,upstream_gene_variant,,ENST00000595113,;CEACAM5,upstream_gene_variant,,ENST00000595403,;CEACAM7,upstream_gene_variant,,ENST00000599715,;CEACAM5,non_coding_transcript_exon_variant,,ENST00000596606,;CEACAM5,non_coding_transcript_exon_variant,,ENST00000460121,;	uc002ork.2	c.77C>A	191/2874	2	2			c.77C>A						19	SNP	c.(76-78)ACC>AAC	45	45			skin(2)	2	Broad	carcinoembryonic antigen-related cell adhesion			42213611		0.537	ENSG00000105388	3136	g.chr19:42213611C>A		anchored to membrane|basolateral plasma membrane|integral to plasma membrane								178.117837	KEEP	45	32	0.415584416	70	65	45	32	0.415584416	181.439746	70	65	0.355556	1	0	0	0	0	1	0	0	0	--	--		0	A			CEACAM5_uc010ehz.1_Missense_Mutation_p.T26N|CEACAM5_uc002orj.1_Missense_Mutation_p.T26N|CEACAM5_uc002orl.2_Missense_Mutation_p.T26N	132	GBM-14-0740-TP	p.T26N	C	TCACTTCTAACCTTCTGGAAC	NM_004363	NP_004354	42213611	P06731	CEAM5_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	2	198	+	A	A			Missense_Mutation	26						
CEACAM5	0	broad.mit.edu	GRCh37	19	42224052	42224052	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs138799075	byFrequency	TCGA-32-4209-01	TCGA-32-4209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221992.6:c.1696G>A	p.Ala566Thr	p.A566T	ENST00000221992	NM_004363.2	566	Gca/Aca	0	A:0.0005	C:0	1	C:0		A	A/T	uc002ork.2	protein_coding	YES	CCDS12584.1			1696/2109									skin(2)	2	c.(1696-1698)GCA>ACA			PROSITE_profiles:PS50835,Pfam_domain:PF13927,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	carcinoembryonic antigen-related cell adhesion		C:0	A:0.0003	ENSP00000221992	C:0	10-Jul	0.000165		0.000259			0.000195		0.000242	rs138799075,COSM3404279	10-Jul	.		ENST00000221992	Transcript		C:0.0002		anchored to membrane|basolateral plasma membrane|integral to plasma membrane		ENSG00000105388	g.chr19:42224052G>A	1817			MODERATE		-0.315	neutral	getma.org/?cm=msa&ty=f&p=CEAM5_HUMAN&rb=502&re=575&var=A566T	getma.org/pdb.php?prot=CEAM5_HUMAN&from=502&to=575&var=A566T	getma.org/?cm=var&var=hg19,19,42224052,G,A&fts=all	A566T	--	--	1																																		CEACAM5_uc002orj.1_Missense_Mutation_p.A565T|CEACAM5_uc002orl.2_Missense_Mutation_p.A566T	0,1	1		benign(0.138)	p.A566T	NM_004363	NP_004354	C:0.001	tolerated(1)	0,1	CEAM5_HUMAN	CEACAM5	HGNC	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	Q7KZ28_HUMAN,M0QXV9_HUMAN		7	1817	+			UPI000013C7E5	566			Ig-like 6.		SNV	CEACAM5,missense_variant,p.Ala566Thr,ENST00000221992,NM_004363.2;CEACAM5,missense_variant,p.Ala565Thr,ENST00000398599,;CEACAM5,missense_variant,p.Ala566Thr,ENST00000405816,;CEA,intron_variant,,ENST00000598976,;CEA,intron_variant,,ENST00000435837,;CEACAM5,downstream_gene_variant,,ENST00000595113,;CEACAM5,downstream_gene_variant,,ENST00000595403,;CEACAM5,downstream_gene_variant,,ENST00000596606,;	uc002ork.2	c.1696G>A	1810/2874	2	2			c.1696G>A						19	SNP	c.(1696-1698)GCA>ACA	29	29			skin(2)	2	Broad	carcinoembryonic antigen-related cell adhesion			42224052		0.522	ENSG00000105388	3136	g.chr19:42224052G>A		anchored to membrane|basolateral plasma membrane|integral to plasma membrane								289.07433	KEEP	54	66	-1	122	154	54	66	-1	301.580726	122	154	0.30411	1	0	0	0	0	1	0	0	0	--	--		0	A			CEACAM5_uc002orj.1_Missense_Mutation_p.A565T|CEACAM5_uc002orl.2_Missense_Mutation_p.A566T	244	GBM-32-4209-TP	p.A566T	G	AAGAAATGACGCAAGAGCCTA	NM_004363	NP_004354	42224052	P06731	CEAM5_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	7	1817	+	A	A			Missense_Mutation	566			Ig-like 6.			
CEACAM7	1087	broad.mit.edu	GRCh37	19	42187746	42187746	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0648-01	TCGA-06-0648-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000006724.3:c.676C>T	p.Arg226Cys	p.R226C	ENST00000006724	NM_006890.3	226	Cgc/Tgc	0	A:0		1			A	R/C	uc002ori.1	protein_coding	YES	CCDS12583.1			676/798									ovary(2)	2	c.(676-678)CGC>TGC			Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF107,PROSITE_profiles:PS50835	carcinoembryonic antigen-related cell adhesion			A:0.0001	ENSP00000006724		5-Mar	3.29E-05		8.64E-05			4.50E-05			rs369677539,COSM2151389	5-Mar	.		ENST00000006724	Transcript				anchored to membrane|integral to membrane|plasma membrane		ENSG00000007306	g.chr19:42187746G>A	1819			MODERATE		2.82	medium	getma.org/?cm=msa&ty=f&p=CEAM7_HUMAN&rb=147&re=234&var=R226C	getma.org/pdb.php?prot=CEAM7_HUMAN&from=147&to=234&var=R226C	getma.org/?cm=var&var=hg19,19,42187746,G,A&fts=all	R226C	--	--	1																																		CEACAM7_uc010ehx.2_Missense_Mutation_p.R226C|CEACAM7_uc010ehy.1_Intron	0,1	1		benign(0.147)	p.R226C	NM_006890	NP_008821		tolerated(0.05)	0,1	CEAM7_HUMAN	CEACAM7	HGNC	Q14002	CEAM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)			3	678	-			UPI000012748E	226			Ig-like C2-type.		SNV	CEACAM7,missense_variant,p.Arg226Cys,ENST00000006724,NM_006890.3;CEACAM7,missense_variant,p.Arg226Cys,ENST00000401731,;CEACAM7,intron_variant,,ENST00000338196,;CEACAM7,intron_variant,,ENST00000602225,;CEACAM7,downstream_gene_variant,,ENST00000599715,;	uc002ori.1	c.676C>T	878/2489	1	1			c.676C>T						19	SNP	c.(676-678)CGC>TGC	52	52			ovary(2)	2	Broad	carcinoembryonic antigen-related cell adhesion			42187746		0.552	ENSG00000007306	3138	g.chr19:42187746G>A		anchored to membrane|integral to membrane|plasma membrane								250.495169	KEEP	39	54	-1	78	75	39	54	-1	252.673992	78	75	0.389163	1	0	0	0	0	1	0	0	0	--	--		0	A			CEACAM7_uc010ehx.2_Missense_Mutation_p.R226C|CEACAM7_uc010ehy.1_Intron	61	GBM-06-0648-TP	p.R226C	G	GGGTCACTGCGGCTGGCACCC	NM_006890	NP_008821	42187746	Q14002	CEAM7_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)	3	678	-	A	A			Missense_Mutation	226			Ig-like C2-type.			
CEACAM7	1087		GRCh37	19	42187745	42187745	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000006724.3:c.677G>A	p.Arg226His	p.R226H	ENST00000006724	NM_006890.3	226	cGc/cAc	0																																																																																																																																																																																																																																												
CECR6	0	broad.mit.edu	GRCh37	22	17600851	17600851	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-26-1439-01	TCGA-26-1439-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331437.3:c.1167G>A	p.Arg389=	p.R389=	ENST00000331437	NM_031890.3	389	cgG/cgA	0			1			T	R	uc002zmb.2	protein_coding	YES	CCDS13740.1			1167/1737										0	c.(1165-1167)CGG>CGA			hmmpanther:PTHR22146,hmmpanther:PTHR22146:SF1,Pfam_domain:PF14997	cat eye syndrome chromosome region, candidate 6				ENSP00000329318		1-Jan									COSM3405501	1-Jan	.		ENST00000331437	Transcript						ENSG00000183307	g.chr22:17600851C>T	1844			LOW								--	--	1																																		CECR6_uc002zma.2_Silent_p.R34R|uc002zmc.2_5'Flank	1	1			p.R389R	NM_031890	NP_114096			1	CECR6_HUMAN	CECR6	HGNC	Q9BXQ6	CECR6_HUMAN		Colorectal(9;0.221)			1	1363	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	UPI0000127513	389					SNV	CECR6,synonymous_variant,p.=,ENST00000331437,NM_031890.3;CECR6,synonymous_variant,p.=,ENST00000399875,NM_001163079.1;IL17RA,downstream_gene_variant,,ENST00000319363,NM_014339.6;AC006946.15,upstream_gene_variant,,ENST00000441544,;AC006946.15,upstream_gene_variant,,ENST00000428078,;	uc002zmb.2	c.1167G>A	1293/4954	2	2			c.1167G>A						22	SNP	c.(1165-1167)CGG>CGA	46	46				0	Broad	cat eye syndrome chromosome region, candidate 6			17600851		0.736	ENSG00000183307	3148	g.chr22:17600851C>T										6.54808	KEEP	0	2	-1	2	3	0	2	-1	6.695643	2	3	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	T			CECR6_uc002zma.2_Silent_p.R34R|uc002zmc.2_5'Flank	179	GBM-26-1439-TP	p.R389R	C	CCGCGCGGTGCCGCTGGGGCT	NM_031890	NP_114096	17600851	Q9BXQ6	CECR6_HUMAN	0		Colorectal(9;0.221)	1	1363	-	T	T		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	Silent	389						
CEL	0	broad.mit.edu	GRCh37	9	135946657	135946658	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C			TCGA-06-6701-01	TCGA-06-6701-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372080.4:c.1785dupC	p.Val596ArgfsTer6	p.V596Rfs*6	ENST00000372080	NM_001807.4	593	gcc/gCcc	0			1			C	A/AX	uc010naa.1	protein_coding	YES	CCDS43896.1			1777-1778/2271									pancreas(1)	1	c.(1777-1779)GCCfs				carboxyl ester lipase precursor				ENSP00000361151		11-Nov										11-Nov	.		ENST00000372080	Transcript	1		cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	ENSG00000170835	g.chr9:135946657_135946658insC	1848	8		HIGH								--	--	1																																				1			p.A593fs	NM_001807	NP_001798					CEL	HGNC	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	Q9UMB1_HUMAN		11	1793_1794	+			UPI000013E8C6	590			3.|17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).		insertion	CEL,frameshift_variant,p.Val596ArgfsTer6,ENST00000372080,NM_001807.4;CEL,frameshift_variant,p.Val527ArgfsTer6,ENST00000351304,;	uc010naa.1	c.1777_1778insC	1793-1794/2384	5	5			c.1777_1778insC						9	INS	c.(1777-1779)GCCfs	58	58			pancreas(1)	1	Broad	carboxyl ester lipase precursor			135946658		0.817	ENSG00000170835	3149	g.chr9:135946657_135946658insC	cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity																				0.33	1	0	0	1	1	0	0	0	0	--	--		0	C				115	GBM-06-6701-TP	p.A593fs	-	TGACTCCGGGGCCCCCCCCGTG	NM_001807	NP_001798	135946657	P19835	CEL_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	11	1793_1794	+	C	C			Frame_Shift_Ins	590			3.|17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).			
CEL	0	broad.mit.edu	GRCh37	9	135946656	135946656	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-26-5135-01	TCGA-26-5135-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372080.4:c.1776G>C	p.Gly592=	p.G592=	ENST00000372080	NM_001807.4	592	ggG/ggC	0			1			C	G	uc010naa.1	protein_coding	YES	CCDS43896.1			1776/2271									pancreas(1)	1	c.(1774-1776)GGG>GGC				carboxyl ester lipase precursor				ENSP00000361151		11-Nov	0.000194					0.000536		0.0012	COSM3413410	11-Nov	common_variant		ENST00000372080	Transcript	1		cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	ENSG00000170835	g.chr9:135946656G>C	1848			LOW								--	--	1																																			1	1			p.G592G	NM_001807	NP_001798			1		CEL	HGNC	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	Q9UMB1_HUMAN		11	1792	+			UPI000013E8C6	589			3.|17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).		SNV	CEL,synonymous_variant,p.=,ENST00000372080,NM_001807.4;CEL,synonymous_variant,p.=,ENST00000351304,;	uc010naa.1	c.1776G>C	1792/2384	4	4			c.1776G>C						9	SNP	c.(1774-1776)GGG>GGC	48	48			pancreas(1)	1	Broad	carboxyl ester lipase precursor			135946656		0.811	ENSG00000170835	3149	g.chr9:135946656G>C	cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity							10.724091	KEEP	2	1	-1	2	4	2	1	-1	10.755222	2	4	0.428571	1	0	0	0	0	0	0	1	0	--	--		0	C				184	GBM-26-5135-TP	p.G592G	G	GTGACTCCGGGGCCCCCCCCG	NM_001807	NP_001798	135946656	P19835	CEL_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	11	1792	+	C	C			Silent	589			3.|17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).			
CEL	0	broad.mit.edu	GRCh37	9	135945963	135945963	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01	TCGA-32-1970-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372080.4:c.1411G>A	p.Ala471Thr	p.A471T	ENST00000372080	NM_001807.4	471	Gcc/Acc	0			1			A	A/T	uc010naa.1	protein_coding	YES	CCDS43896.1			1411/2271									pancreas(1)	1	c.(1411-1413)GCC>ACC			Superfamily_domains:SSF53474,Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF139	carboxyl ester lipase precursor				ENSP00000361151		11-Oct	2.48E-05					1.50E-05		0.000121	rs777913068,COSM3413409	11-Oct	.		ENST00000372080	Transcript	1		cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	ENSG00000170835	g.chr9:135945963G>A	1848			MODERATE		0.05	neutral	getma.org/?cm=msa&ty=f&p=CEL_HUMAN&rb=1&re=542&var=A468T	getma.org/pdb.php?prot=CEL_HUMAN&from=1&to=542&var=A468T	getma.org/?cm=var&var=hg19,9,135945963,G,A&fts=all	A468T	--	--	1																																			0,1	1		benign(0.091)	p.A471T	NM_001807	NP_001798		tolerated(0.21)	0,1		CEL	HGNC	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	Q9UMB1_HUMAN		10	1427	+			UPI000013E8C6	468					SNV	CEL,missense_variant,p.Ala471Thr,ENST00000372080,NM_001807.4;CEL,intron_variant,,ENST00000351304,;	uc010naa.1	c.1411G>A	1427/2384	1	1			c.1411G>A						9	SNP	c.(1411-1413)GCC>ACC	55	55			pancreas(1)	1	Broad	carboxyl ester lipase precursor			135945963		0.582	ENSG00000170835	3149	g.chr9:135945963G>A	cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity							11.977196	KEEP	22	16	-1	173	178	22	16	-1	67.081203	173	178	0.095238	1	0	0	0	0	1	0	0	0	--	--		0	A				228	GBM-32-1970-TP	p.A471T	G	GAAGCCCTTCGCCACCCCCAC	NM_001807	NP_001798	135945963	P19835	CEL_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	10	1427	+	A	A			Missense_Mutation	468						
CEL	0	broad.mit.edu	GRCh37	9	135945919	135945919	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-87-5896-01	TCGA-87-5896-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372080.4:c.1367C>T	p.Ala456Val	p.A456V	ENST00000372080	NM_001807.4	456	gCc/gTc	0			1			T	A/V	uc010naa.1	protein_coding	YES	CCDS43896.1			1367/2271									pancreas(1)	1	c.(1366-1368)GCC>GTC			Superfamily_domains:SSF53474,Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF139	carboxyl ester lipase precursor				ENSP00000361151		11-Oct									COSM3413408	11-Oct	.		ENST00000372080	Transcript	1		cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	ENSG00000170835	g.chr9:135945919C>T	1848			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=CEL_HUMAN&rb=1&re=542&var=A453V	getma.org/pdb.php?prot=CEL_HUMAN&from=1&to=542&var=A453V	getma.org/?cm=var&var=hg19,9,135945919,C,T&fts=all	A453V	--	--	1																																			1	1		probably_damaging(1)	p.A456V	NM_001807	NP_001798		deleterious(0.03)	1		CEL	HGNC	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	Q9UMB1_HUMAN		10	1383	+			UPI000013E8C6	453					SNV	CEL,missense_variant,p.Ala456Val,ENST00000372080,NM_001807.4;CEL,intron_variant,,ENST00000351304,;	uc010naa.1	c.1367C>T	1383/2384	2	2			c.1367C>T						9	SNP	c.(1366-1368)GCC>GTC	32	32			pancreas(1)	1	Broad	carboxyl ester lipase precursor			135945919		0.607	ENSG00000170835	3149	g.chr9:135945919C>T	cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity							-6.559772	KEEP	1	3	-1	22	48	1	3	-1	6.945229	22	48	0.059701	1	0	0	0	0	1	0	0	0	--	--		0	T				291	GBM-87-5896-TP	p.A456V	C	TGGGTGGGGGCCGACCATGCA	NM_001807	NP_001798	135945919	P19835	CEL_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	10	1383	+	T	T			Missense_Mutation	453						
CELA3B	0	broad.mit.edu	GRCh37	1	22313121	22313121	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2528-01	TCGA-27-2528-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337107.6:c.740G>A	p.Arg247His	p.R247H	ENST00000337107	NM_007352.2	247	cGc/cAc	0			1			A	R/H	uc001bfk.2	protein_coding	YES	CCDS219.1			740/813									ovary(1)	1	c.(739-741)CGC>CAC			Superfamily_domains:SSF50494,SMART_domains:SM00020,Gene3D:2.40.10.10,Pfam_domain:PF00089,hmmpanther:PTHR24257,hmmpanther:PTHR24257:SF11,PROSITE_profiles:PS50240	elastase 3B, pancreatic preproprotein				ENSP00000338369		8-Jul									COSM1960091	8-Jul	.		ENST00000337107	Transcript			cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity	ENSG00000219073	g.chr1:22313121G>A	15945			MODERATE		0.46	neutral	getma.org/?cm=msa&ty=f&p=CEL3B_HUMAN&rb=29&re=263&var=R247H	getma.org/pdb.php?prot=CEL3B_HUMAN&from=29&to=263&var=R247H	getma.org/?cm=var&var=hg19,1,22313121,G,A&fts=all	R247H	--	--	1																																		CELA3B_uc009vqf.2_Intron	1	1		benign(0.202)	p.R247H	NM_007352	NP_031378		tolerated(0.46)	1	CEL3B_HUMAN	CELA3B	HGNC	P08861	CEL3B_HUMAN					7	855	+			UPI0000156D2F	247			Peptidase S1.		SNV	CELA3B,missense_variant,p.Arg150His,ENST00000400277,;CELA3B,missense_variant,p.Arg247His,ENST00000337107,NM_007352.2;CELA3B,downstream_gene_variant,,ENST00000374666,;RNU6-1022P,upstream_gene_variant,,ENST00000365049,;RN7SL386P,upstream_gene_variant,,ENST00000485776,;CELA3B,non_coding_transcript_exon_variant,,ENST00000473526,;	uc001bfk.2	c.740G>A	759/897	2	2			c.740G>A						1	SNP	c.(739-741)CGC>CAC	22	22			ovary(1)	1	Broad	elastase 3B, pancreatic preproprotein			22313121		0.622	ENSG00000219073	3154	g.chr1:22313121G>A	cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity							101.343726	KEEP	21	19	-1	40	35	21	19	-1	103.03578	40	35	0.362745	1	0	0	0	0	1	0	0	0	--	--		0	A			CELA3B_uc009vqf.2_Intron	205	GBM-27-2528-TP	p.R247H	G	TGCAACACCCGCAGGAAGCCC	NM_007352	NP_031378	22313121	P08861	CEL3B_HUMAN	0			7	855	+	A	A			Missense_Mutation	247			Peptidase S1.			
CELF1	0	broad.mit.edu	GRCh37	11	47496959	47496959	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-81-5910-01	TCGA-81-5910-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358597.3:c.1118C>T	p.Ala373Val	p.A373V	ENST00000358597		373	gCg/gTg	0		A:0	1	A:0		A	A/V	uc001nfl.2	protein_coding		CCDS31482.1			1118/1461									central_nervous_system(2)|ovary(1)	3	c.(1117-1119)GCG>GTG			hmmpanther:PTHR24622:SF179,hmmpanther:PTHR24622,Gene3D:3.30.70.330	CUG triplet repeat, RNA-binding protein 1		A:0		ENSP00000351409	A:0	13-Oct	1.65E-05					1.50E-05		6.06E-05	rs565562546,COSM3397720,COSM3397721	13-Oct	.		ENST00000358597	Transcript		A:0.0002	embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding	ENSG00000149187	g.chr11:47496959G>A	2549			MODERATE		2.165	medium	getma.org/?cm=msa&ty=f&p=CELF1_HUMAN&rb=179&re=378&var=A373V	NA	getma.org/?cm=var&var=hg19,11,47496959,G,A&fts=all	A373V	--	--	1																																		CELF1_uc001nfm.2_Missense_Mutation_p.A370V|CELF1_uc001nfn.2_Missense_Mutation_p.A369V|CELF1_uc001nfo.1_Missense_Mutation_p.A399V|CELF1_uc010rhm.1_Missense_Mutation_p.A372V|CELF1_uc001nfp.2_Missense_Mutation_p.A401V|CELF1_uc001nfq.1_Missense_Mutation_p.A373V|CELF1_uc001nfr.1_Missense_Mutation_p.A373V	0,1,1			benign(0.338)	p.A373V	NM_001025596	NP_001020767	A:0.001	deleterious(0.02)	0,1,1	CELF1_HUMAN	CELF1	HGNC	Q92879	CELF1_HUMAN			F5H4Y5_HUMAN,E9PSH0_HUMAN,E9PQK4_HUMAN,E9PKA1_HUMAN		10	1128	-			UPI00001286E2	373					SNV	CELF1,missense_variant,p.Ala372Val,ENST00000395290,NM_001172640.1,NM_001025596.2;CELF1,missense_variant,p.Ala401Val,ENST00000531165,;CELF1,missense_variant,p.Ala399Val,ENST00000532048,NM_001172639.1;CELF1,missense_variant,p.Ala370Val,ENST00000395292,NM_198700.2;CELF1,missense_variant,p.Ala369Val,ENST00000310513,NM_006560.3;CELF1,missense_variant,p.Ala373Val,ENST00000358597,;CELF1,missense_variant,p.Ala370Val,ENST00000361904,;CELF1,non_coding_transcript_exon_variant,,ENST00000539455,;CELF1,non_coding_transcript_exon_variant,,ENST00000539254,;CELF1,downstream_gene_variant,,ENST00000422993,;CELF1,upstream_gene_variant,,ENST00000524648,;CELF1,downstream_gene_variant,,ENST00000534614,;	uc001nfl.2	c.1118C>T	1118/2108	1	1			c.1118C>T						11	SNP	c.(1117-1119)GCG>GTG	54	54			central_nervous_system(2)|ovary(1)	3	Broad	CUG triplet repeat, RNA-binding protein 1			47496959		0.577	ENSG00000149187	3155	g.chr11:47496959G>A	embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding	Pancreas(163;1949 1966 9906 43218 43785)			Pancreas(163;1949 1966 9906 43218 43785)			-9.225651	KEEP	1	4	-1	44	38	1	4	-1	6.826832	44	38	0.052632	1	0	0	0	0	1	0	0	0	--	--		0	A			CELF1_uc001nfm.2_Missense_Mutation_p.A370V|CELF1_uc001nfn.2_Missense_Mutation_p.A369V|CELF1_uc001nfo.1_Missense_Mutation_p.A399V|CELF1_uc010rhm.1_Missense_Mutation_p.A372V|CELF1_uc001nfp.2_Missense_Mutation_p.A401V|CELF1_uc001nfq.1_Missense_Mutation_p.A373V|CELF1_uc001nfr.1_Missense_Mutation_p.A373V	289	GBM-81-5910-TP	p.A373V	G	AGTGGGGAGCGCAGCAGCAGC	NM_001025596	NP_001020767	47496959	Q92879	CELF1_HUMAN	0			10	1128	-	A	A			Missense_Mutation	373						
CELF4	56853		GRCh37	18	34854357	34854357	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000420428.2:c.718C>T	p.Arg240Ter	p.R240*	ENST00000420428	NM_020180.3	240	Cga/Tga	0																																																																																																																																																																																																																																												
CELF5	0	broad.mit.edu	GRCh37	19	3282231	3282231	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-1836-01	TCGA-27-1836-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000292672.2:c.858C>T	p.Asn286=	p.N286=	ENST00000292672	NM_021938.3	286	aaC/aaT	0	T:0	T:0	1	T:0		T	N	uc002lxm.2	protein_coding	YES	CCDS12106.1			858/1458									ovary(2)	2	c.(856-858)AAC>AAT			hmmpanther:PTHR24622	bruno-like 5, RNA binding protein		T:0	T:0.0002	ENSP00000292672	T:0	13-Jul	0.000255					0.000152		0.00121	rs200411650,COSM3404081	13-Jul	common_variant		ENST00000292672	Transcript		T:0.0002	mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding	ENSG00000161082	g.chr19:3282231C>T	14058			LOW								--	--	1																																		CELF5_uc002lxl.1_Silent_p.N286N|CELF5_uc010dtj.1_Silent_p.N286N|CELF5_uc010xhg.1_Silent_p.N172N|CELF5_uc002lxn.2_RNA	0,1	1			p.N286N	NM_021938	NP_068757	T:0.001		0,1	CELF5_HUMAN	CELF5	HGNC	Q8N6W0	CELF5_HUMAN					7	895	+			UPI00000705EC	286					SNV	CELF5,synonymous_variant,p.=,ENST00000541430,NM_001172673.1;CELF5,synonymous_variant,p.=,ENST00000292672,NM_021938.3;CELF5,non_coding_transcript_exon_variant,,ENST00000589370,;CELF5,non_coding_transcript_exon_variant,,ENST00000586050,;CELF5,upstream_gene_variant,,ENST00000588101,;CELF5,synonymous_variant,p.=,ENST00000588350,;CELF5,synonymous_variant,p.=,ENST00000334293,;CELF5,upstream_gene_variant,,ENST00000591483,;	uc002lxm.2	c.858C>T	895/1854	1	1			c.858C>T						19	SNP	c.(856-858)AAC>AAT	11	11			ovary(2)	2	Broad	bruno-like 5, RNA binding protein			3282231		0.647	ENSG00000161082	3159	g.chr19:3282231C>T	mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding							24.164868	KEEP	9	11	-1	25	13	9	11	-1	24.829651	25	13	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	T			CELF5_uc002lxl.1_Silent_p.N286N|CELF5_uc010dtj.1_Silent_p.N286N|CELF5_uc010xhg.1_Silent_p.N172N|CELF5_uc002lxn.2_RNA	195	GBM-27-1836-TP	p.N286N	C	TCAGCCTCAACGGGCTGCCTG	NM_021938	NP_068757	3282231	Q8N6W0	CELF5_HUMAN	0			7	895	+	T	T			Silent	286						
CELF5	0	broad.mit.edu	GRCh37	19	3293345	3293345	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-2514-01	TCGA-28-2514-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000292672.2:c.1359C>T	p.Ser453=	p.S453=	ENST00000292672	NM_021938.3	453	agC/agT	0	T:0.0005		1			T	S	uc002lxm.2	protein_coding	YES	CCDS12106.1			1359/1458									ovary(2)	2	c.(1357-1359)AGC>AGT			PROSITE_profiles:PS50102,hmmpanther:PTHR24622,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928	bruno-like 5, RNA binding protein			T:0	ENSP00000292672		13-Dec	1.65E-05	0.000192							rs372894450,COSM2750882	13-Dec	.		ENST00000292672	Transcript			mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding	ENSG00000161082	g.chr19:3293345C>T	14058			LOW								--	--	1																																		CELF5_uc002lxl.1_3'UTR|CELF5_uc010dtj.1_3'UTR|CELF5_uc010xhg.1_3'UTR|CELF5_uc002lxn.2_RNA	0,1	1			p.S453S	NM_021938	NP_068757			0,1	CELF5_HUMAN	CELF5	HGNC	Q8N6W0	CELF5_HUMAN					12	1396	+			UPI00000705EC	453			RRM 3.		SNV	CELF5,synonymous_variant,p.=,ENST00000292672,NM_021938.3;CELF5,3_prime_UTR_variant,,ENST00000541430,NM_001172673.1;AC010649.1,downstream_gene_variant,,ENST00000592230,;AC010649.1,downstream_gene_variant,,ENST00000590698,;AC010649.1,downstream_gene_variant,,ENST00000587592,;CELF5,downstream_gene_variant,,ENST00000586050,;CELF5,3_prime_UTR_variant,,ENST00000588350,;CELF5,3_prime_UTR_variant,,ENST00000334293,;CELF5,non_coding_transcript_exon_variant,,ENST00000591483,;	uc002lxm.2	c.1359C>T	1396/1854	2	2			c.1359C>T						19	SNP	c.(1357-1359)AGC>AGT	41	41			ovary(2)	2	Broad	bruno-like 5, RNA binding protein			3293345		0.622	ENSG00000161082	3159	g.chr19:3293345C>T	mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding							111.710594	KEEP	24	25	-1	46	66	24	25	-1	116.226305	46	66	0.3125	1	0	0	0	0	0	0	1	0	--	--		0	T			CELF5_uc002lxl.1_3'UTR|CELF5_uc010dtj.1_3'UTR|CELF5_uc010xhg.1_3'UTR|CELF5_uc002lxn.2_RNA	214	GBM-28-2514-TP	p.S453S	C	ACCCGGCCAGCGCCCAGGCAG	NM_021938	NP_068757	3293345	Q8N6W0	CELF5_HUMAN	0			12	1396	+	T	T			Silent	453			RRM 3.			
CELSR1	9620	broad.mit.edu	GRCh37	22	46860064	46860064	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262738.3:c.3723C>T	p.Asp1241=	p.D1241=	ENST00000262738	NM_014246.1	1241	gaC/gaT	0			1			A	D	uc003bhw.1	protein_coding	YES	CCDS14076.1			3723/9045									lung(4)|breast(4)|pancreas(2)|skin(1)	11	c.(3721-3723)GAC>GAT			hmmpanther:PTHR24026	cadherin EGF LAG seven-pass G-type receptor 1				ENSP00000262738		Feb-35									COSM2149570	Feb-35	.		ENST00000262738	Transcript	1		central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	ENSG00000075275	g.chr22:46860064G>A	1850			LOW								--	--	1																																			1	1			p.D1241D	NM_014246	NP_055061			1	CELR1_HUMAN	CELSR1	HGNC	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	Q8NDT0_HUMAN		2	3723	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	UPI0000040648	1241			Extracellular (Potential).		SNV	CELSR1,synonymous_variant,p.=,ENST00000262738,NM_014246.1;CELSR1,synonymous_variant,p.=,ENST00000395964,;CELSR1,synonymous_variant,p.=,ENST00000454637,;	uc003bhw.1	c.3723C>T	3723/11389	1	1			c.3723C>T						22	SNP	c.(3721-3723)GAC>GAT	55	55			lung(4)|breast(4)|pancreas(2)|skin(1)	11	Broad	cadherin EGF LAG seven-pass G-type receptor 1			46860064		0.642	ENSG00000075275	3161	g.chr22:46860064G>A	central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity							87.569287	KEEP	17	13	-1	21	26	17	13	-1	87.996619	21	26	0.416667	1	0	0	0	0	0	0	1	0	--	--		0	A				18	GBM-06-0137-TP	p.D1241D	G	AGACGAAGACGTCGTCCTTGG	NM_014246	NP_055061	46860064	Q9NYQ6	CELR1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	2	3723	-	A	A		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	Silent	1241			Extracellular (Potential).			
CELSR1	9620	broad.mit.edu	GRCh37	22	46805742	46805742	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6389-01	TCGA-06-6389-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262738.3:c.4969C>T	p.Arg1657Trp	p.R1657W	ENST00000262738	NM_014246.1	1657	Cgg/Tgg	0			1			A	R/W	uc003bhw.1	protein_coding	YES	CCDS14076.1			4969/9045									lung(4)|breast(4)|pancreas(2)|skin(1)	11	c.(4969-4971)CGG>TGG			Superfamily_domains:SSF57184,SMART_domains:SM00181,SMART_domains:SM00179,Gene3D:2.10.25.10,Pfam_domain:PF00008,hmmpanther:PTHR24026,PROSITE_profiles:PS50026	cadherin EGF LAG seven-pass G-type receptor 1				ENSP00000262738		Aug-35	1.65E-05					3.00E-05			rs778592492	Aug-35	.		ENST00000262738	Transcript	1		central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	ENSG00000075275	g.chr22:46805742G>A	1850			MODERATE		0.75	neutral	getma.org/?cm=msa&ty=f&p=CELR1_HUMAN&rb=1653&re=1683&var=R1657W	NA	getma.org/?cm=var&var=hg19,22,46805742,G,A&fts=all	R1657W	--	--	1																																		CELSR1_uc011arc.1_5'Flank		1		benign(0.006)	p.R1657W	NM_014246	NP_055061		tolerated(0.39)		CELR1_HUMAN	CELSR1	HGNC	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	Q8NDT0_HUMAN		8	4969	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	UPI0000040648	1657			Extracellular (Potential).|EGF-like 4; calcium-binding.		SNV	CELSR1,missense_variant,p.Arg1657Trp,ENST00000262738,NM_014246.1;	uc003bhw.1	c.4969C>T	4969/11389	1	1			c.4969C>T						22	SNP	c.(4969-4971)CGG>TGG	53	53			lung(4)|breast(4)|pancreas(2)|skin(1)	11	Broad	cadherin EGF LAG seven-pass G-type receptor 1			46805742		0.622	ENSG00000075275	3161	g.chr22:46805742G>A	central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity							-15.035835	KEEP	2	4	-1	58	86	2	4	-1	12.117318	58	86	0.048	1	0	0	0	0	1	0	0	0	--	--		0	A			CELSR1_uc011arc.1_5'Flank	105	GBM-06-6389-TP	p.R1657W	G	TTCTGACACCGCCTCCCATCG	NM_014246	NP_055061	46805742	Q9NYQ6	CELR1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	8	4969	-	A	A		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	Missense_Mutation	1657			Extracellular (Potential).|EGF-like 4; calcium-binding.			
CELSR1	0	broad.mit.edu	GRCh37	22	46930786	46930786	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01	TCGA-12-0615-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262738.3:c.2282C>T	p.Ala761Val	p.A761V	ENST00000262738	NM_014246.1	761	gCg/gTg	0			1			A	A/V	uc003bhw.1	protein_coding	YES	CCDS14076.1			2282/9045									lung(4)|breast(4)|pancreas(2)|skin(1)	11	c.(2281-2283)GCG>GTG			Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24026,PROSITE_profiles:PS50268	cadherin EGF LAG seven-pass G-type receptor 1				ENSP00000262738		Jan-35	7.42E-05					0.000107		0.000121	rs752239073,COSM2153475	Jan-35	.		ENST00000262738	Transcript	1		central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	ENSG00000075275	g.chr22:46930786G>A	1850			MODERATE		-1.555	neutral	getma.org/?cm=msa&ty=f&p=CELR1_HUMAN&rb=692&re=780&var=A761V	getma.org/pdb.php?prot=CELR1_HUMAN&from=692&to=780&var=A761V	getma.org/?cm=var&var=hg19,22,46930786,G,A&fts=all	A761V	--	--	1																																			0,1	1		possibly_damaging(0.523)	p.A761V	NM_014246	NP_055061		tolerated(0.18)	0,1	CELR1_HUMAN	CELSR1	HGNC	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	Q8NDT0_HUMAN		1	2282	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	UPI0000040648	761			Extracellular (Potential).|Cadherin 5.		SNV	CELSR1,missense_variant,p.Ala761Val,ENST00000262738,NM_014246.1;CELSR1,missense_variant,p.Ala761Val,ENST00000395964,;CELSR1,missense_variant,p.Ala136Val,ENST00000454637,;CELSR1,upstream_gene_variant,,ENST00000497509,;	uc003bhw.1	c.2282C>T	2282/11389	2	2			c.2282C>T						22	SNP	c.(2281-2283)GCG>GTG	41	41			lung(4)|breast(4)|pancreas(2)|skin(1)	11	Broad	cadherin EGF LAG seven-pass G-type receptor 1			46930786		0.602	ENSG00000075275	3161	g.chr22:46930786G>A	central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity							111.311227	KEEP	19	21	-1	23	34	19	21	-1	111.325323	23	34	0.513889	1	0	0	0	0	1	0	0	0	--	--		0	A				117	GBM-12-0615-TP	p.A761V	G	TGCTGTCACCGCCAGCACGTA	NM_014246	NP_055061	46930786	Q9NYQ6	CELR1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	2282	-	A	A		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	Missense_Mutation	761			Extracellular (Potential).|Cadherin 5.			
CELSR1	0	broad.mit.edu	GRCh37	22	46793605	46793605	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0616-01	TCGA-12-0616-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262738.3:c.5667C>T	p.Asp1889=	p.D1889=	ENST00000262738	NM_014246.1	1889	gaC/gaT	0		A:0	1	A:0		A	D	uc003bhw.1	protein_coding	YES	CCDS14076.1			5667/9045									lung(4)|breast(4)|pancreas(2)|skin(1)	11	c.(5665-5667)GAC>GAT			Superfamily_domains:SSF57196,SMART_domains:SM00181,SMART_domains:SM00179,Gene3D:2.10.25.10,PROSITE_patterns:PS00010,hmmpanther:PTHR24026,PROSITE_profiles:PS50026	cadherin EGF LAG seven-pass G-type receptor 1		A:0		ENSP00000262738	A:0	Dec-35	1.65E-05			0.000428				0.000165	rs549063106,COSM2153544	Dec-35	common_variant		ENST00000262738	Transcript	1	A:0.0004	central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	ENSG00000075275	g.chr22:46793605G>A	1850			LOW								--	--	1																																		CELSR1_uc011arc.1_Silent_p.D210D	0,1	1			p.D1889D	NM_014246	NP_055061	A:0.002		0,1	CELR1_HUMAN	CELSR1	HGNC	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	Q8NDT0_HUMAN		12	5667	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	UPI0000040648	1889			Extracellular (Potential).|EGF-like 5; calcium-binding.		SNV	CELSR1,synonymous_variant,p.=,ENST00000262738,NM_014246.1;	uc003bhw.1	c.5667C>T	5667/11389	2	2			c.5667C>T						22	SNP	c.(5665-5667)GAC>GAT	47	47			lung(4)|breast(4)|pancreas(2)|skin(1)	11	Broad	cadherin EGF LAG seven-pass G-type receptor 1			46793605		0.617	ENSG00000075275	3161	g.chr22:46793605G>A	central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity							14.472554	KEEP	7	4	-1	6	10	7	4	-1	14.624053	6	10	0.384615	1	0	0	0	0	0	0	1	0	--	--		0	A			CELSR1_uc011arc.1_Silent_p.D210D	118	GBM-12-0616-TP	p.D1889D	G	CCTCCCAGGCGTCGTGGCAGC	NM_014246	NP_055061	46793605	Q9NYQ6	CELR1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	12	5667	-	A	A		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	Silent	1889			Extracellular (Potential).|EGF-like 5; calcium-binding.			
CELSR1	0	broad.mit.edu	GRCh37	22	46931874	46931874	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-1836-01	TCGA-27-1836-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262738.3:c.1194C>T	p.Asp398=	p.D398=	ENST00000262738	NM_014246.1	398	gaC/gaT	0			1			A	D	uc003bhw.1	protein_coding	YES	CCDS14076.1			1194/9045									lung(4)|breast(4)|pancreas(2)|skin(1)	11	c.(1192-1194)GAC>GAT			Prints_domain:PR00205,Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24026,PROSITE_profiles:PS50268	cadherin EGF LAG seven-pass G-type receptor 1				ENSP00000262738		Jan-35									COSM3405722	Jan-35	.		ENST00000262738	Transcript	1		central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	ENSG00000075275	g.chr22:46931874G>A	1850			LOW								--	--	1																																			1	1			p.D398D	NM_014246	NP_055061			1	CELR1_HUMAN	CELSR1	HGNC	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	Q8NDT0_HUMAN		1	1194	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	UPI0000040648	398			Extracellular (Potential).|Cadherin 2.		SNV	CELSR1,synonymous_variant,p.=,ENST00000262738,NM_014246.1;CELSR1,synonymous_variant,p.=,ENST00000395964,;CELSR1,upstream_gene_variant,,ENST00000454637,;CELSR1,upstream_gene_variant,,ENST00000497509,;	uc003bhw.1	c.1194C>T	1194/11389	1	1			c.1194C>T						22	SNP	c.(1192-1194)GAC>GAT	58	58			lung(4)|breast(4)|pancreas(2)|skin(1)	11	Broad	cadherin EGF LAG seven-pass G-type receptor 1			46931874		0.682	ENSG00000075275	3161	g.chr22:46931874G>A	central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity							22.995752	KEEP	3	6	-1	5	7	3	6	-1	23.170617	5	7	0.4	1	0	0	0	0	0	0	1	0	--	--		0	A				195	GBM-27-1836-TP	p.D398D	G	GCTGGAAGACGTCCCACGCGC	NM_014246	NP_055061	46931874	Q9NYQ6	CELR1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	1194	-	A	A		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	Silent	398			Extracellular (Potential).|Cadherin 2.			
CELSR1	0	broad.mit.edu	GRCh37	22	46829324	46829324	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-81-5910-01	TCGA-81-5910-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262738.3:c.4577G>A	p.Arg1526Gln	p.R1526Q	ENST00000262738	NM_014246.1	1526	cGg/cAg	0	T:0.0002		1			T	R/Q	uc003bhw.1	protein_coding	YES	CCDS14076.1			4577/9045									lung(4)|breast(4)|pancreas(2)|skin(1)	11	c.(4576-4578)CGG>CAG			Superfamily_domains:SSF49899,SMART_domains:SM00282,Gene3D:2.60.120.200,Pfam_domain:PF02210,hmmpanther:PTHR24026,PROSITE_profiles:PS50025	cadherin EGF LAG seven-pass G-type receptor 1			T:0	ENSP00000262738		May-35	8.24E-06	0.0001							rs377640697,COSM3405721	May-35	.		ENST00000262738	Transcript	1		central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	ENSG00000075275	g.chr22:46829324C>T	1850			MODERATE		-0.525	neutral	getma.org/?cm=msa&ty=f&p=CELR1_HUMAN&rb=1470&re=1629&var=R1526Q	getma.org/pdb.php?prot=CELR1_HUMAN&from=1470&to=1629&var=R1526Q	getma.org/?cm=var&var=hg19,22,46829324,C,T&fts=all	R1526Q	--	--	1																																			0,1	1		benign(0.017)	p.R1526Q	NM_014246	NP_055061		tolerated(1)	0,1	CELR1_HUMAN	CELSR1	HGNC	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	Q8NDT0_HUMAN		5	4577	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	UPI0000040648	1526			Extracellular (Potential).|Laminin G-like 1.		SNV	CELSR1,missense_variant,p.Arg1526Gln,ENST00000262738,NM_014246.1;	uc003bhw.1	c.4577G>A	4577/11389	1	1			c.4577G>A						22	SNP	c.(4576-4578)CGG>CAG	6	6			lung(4)|breast(4)|pancreas(2)|skin(1)	11	Broad	cadherin EGF LAG seven-pass G-type receptor 1			46829324		0.612	ENSG00000075275	3161	g.chr22:46829324C>T	central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity							8.985631	KEEP	1	3	-1	11	14	1	3	-1	11.513028	11	14	0.166667	1	0	0	0	0	1	0	0	0	--	--		0	T				289	GBM-81-5910-TP	p.R1526Q	C	AGAGTGCCACCGCCCGTCACT	NM_014246	NP_055061	46829324	Q9NYQ6	CELR1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	5	4577	-	T	T		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	Missense_Mutation	1526			Extracellular (Potential).|Laminin G-like 1.			
CELSR1	9620		GRCh37	22	46932243	46932243	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000262738.3:c.825C>T	p.Gly275=	p.G275=	ENST00000262738	NM_014246.1	275	ggC/ggT	0																																																																																																																																																																																																																																												
CELSR2	0	broad.mit.edu	GRCh37	1	109801473	109801473	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01	TCGA-12-0615-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271332.3:c.3730G>A	p.Val1244Met	p.V1244M	ENST00000271332	NM_001408.2	1244	Gtg/Atg	0			1			A	V/M	uc001dxa.3	protein_coding	YES	CCDS796.1			3730/8772									ovary(4)|lung(3)|skin(1)	8	c.(3730-3732)GTG>ATG			Gene3D:2.10.25.10,PROSITE_profiles:PS50026,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF32,SMART_domains:SM00181	cadherin EGF LAG seven-pass G-type receptor 2				ENSP00000271332		Feb-34	8.25E-06							7.05E-05	rs755331662,COSM2153533	Feb-34	.		ENST00000271332	Transcript			dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	ENSG00000143126	g.chr1:109801473G>A	3231			MODERATE		2.3	medium	getma.org/?cm=msa&ty=f&p=CELR2_HUMAN&rb=1228&re=1286&var=V1244M	NA	getma.org/?cm=var&var=hg19,1,109801473,G,A&fts=all	V1244M	--	--	1																																			0,1	1		benign(0.27)	p.V1244M	NM_001408	NP_001399		deleterious(0.01)	0,1	CELR2_HUMAN	CELSR2	HGNC	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)			2	3791	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	UPI00000015B6	1244			EGF-like 1; calcium-binding.|Extracellular (Potential).		SNV	CELSR2,missense_variant,p.Val1244Met,ENST00000271332,NM_001408.2;	uc001dxa.3	c.3730G>A	3791/10534	1	1			c.3730G>A						1	SNP	c.(3730-3732)GTG>ATG	49	49			ovary(4)|lung(3)|skin(1)	8	Broad	cadherin EGF LAG seven-pass G-type receptor 2			109801473		0.692	ENSG00000143126	3162	g.chr1:109801473G>A	dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	NSCLC(158;1285 2011 34800 34852 42084)			NSCLC(158;1285 2011 34800 34852 42084)			21.122869	KEEP	1	7	-1	5	6	1	7	-1	21.238179	5	6	0.411765	1	0	0	0	0	1	0	0	0	--	--		0	A				117	GBM-12-0615-TP	p.V1244M	G	CATGCGCTGCGTGTCGGTGCT	NM_001408	NP_001399	109801473	Q9HCU4	CELR2_HUMAN	0		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	2	3791	+	A	A		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	Missense_Mutation	1244			EGF-like 1; calcium-binding.|Extracellular (Potential).			
CELSR2	0	broad.mit.edu	GRCh37	1	109795999	109795999	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01	TCGA-27-2526-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271332.3:c.3298G>A	p.Val1100Met	p.V1100M	ENST00000271332	NM_001408.2	1100	Gtg/Atg	0			1			A	V/M	uc001dxa.3	protein_coding	YES	CCDS796.1			3298/8772									ovary(4)|lung(3)|skin(1)	8	c.(3298-3300)GTG>ATG			Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF32,SMART_domains:SM00112,Superfamily_domains:SSF49313	cadherin EGF LAG seven-pass G-type receptor 2				ENSP00000271332		Jan-34	3.30E-05	0.000106				3.19E-05		6.33E-05	rs751348890,COSM3399523	Jan-34	.		ENST00000271332	Transcript			dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	ENSG00000143126	g.chr1:109795999G>A	3231			MODERATE		3.185	medium	getma.org/?cm=msa&ty=f&p=CELR2_HUMAN&rb=1028&re=1146&var=V1100M	NA	getma.org/?cm=var&var=hg19,1,109795999,G,A&fts=all	V1100M	--	--	1																																			0,1	1		probably_damaging(0.975)	p.V1100M	NM_001408	NP_001399		deleterious(0.01)	0,1	CELR2_HUMAN	CELSR2	HGNC	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)			1	3359	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	UPI00000015B6	1100			Cadherin 9.|Extracellular (Potential).		SNV	CELSR2,missense_variant,p.Val1100Met,ENST00000271332,NM_001408.2;	uc001dxa.3	c.3298G>A	3359/10534	1	1			c.3298G>A						1	SNP	c.(3298-3300)GTG>ATG	54	54			ovary(4)|lung(3)|skin(1)	8	Broad	cadherin EGF LAG seven-pass G-type receptor 2			109795999		0.637	ENSG00000143126	3162	g.chr1:109795999G>A	dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	NSCLC(158;1285 2011 34800 34852 42084)			NSCLC(158;1285 2011 34800 34852 42084)			57.395321	KEEP	9	14	-1	10	21	9	14	-1	57.621799	10	21	0.425532	1	0	0	0	0	1	0	0	0	--	--		0	A				203	GBM-27-2526-TP	p.V1100M	G	CATCATGAGCGTGCTGGTGTC	NM_001408	NP_001399	109795999	Q9HCU4	CELR2_HUMAN	0		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	3359	+	A	A		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	Missense_Mutation	1100			Cadherin 9.|Extracellular (Potential).			
CELSR3	0	broad.mit.edu	GRCh37	3	48697393	48697393	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01	TCGA-27-1834-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000164024.4:c.2675G>A	p.Arg892His	p.R892H	ENST00000164024	NM_001407.2	892	cGt/cAt	0			1			T	R/H	uc003cul.2	protein_coding	YES	CCDS2775.1			2675/9939									ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11	c.(2674-2676)CGT>CAT			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF38,SMART_domains:SM00112,Superfamily_domains:SSF49313	cadherin EGF LAG seven-pass G-type receptor 3				ENSP00000164024		Jan-35	2.47E-05			0.000116		1.50E-05		6.06E-05	rs771709882,COSM3408727	Jan-35	.		ENST00000164024	Transcript			homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	ENSG00000008300	g.chr3:48697393C>T	3230			MODERATE		1.915	medium	getma.org/?cm=msa&ty=f&p=CELR3_HUMAN&rb=863&re=952&var=R892H	getma.org/pdb.php?prot=CELR3_HUMAN&from=863&to=952&var=R892H	getma.org/?cm=var&var=hg19,3,48697393,C,T&fts=all	R892H	--	--	1																																		CELSR3_uc003cuf.1_Missense_Mutation_p.R962H	0,1	1		probably_damaging(1)	p.R892H	NM_001407	NP_001398		deleterious(0)	0,1	CELR3_HUMAN	CELSR3	HGNC	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	B4DSQ9_HUMAN		1	2956	-			UPI00001AE5A6	892			Extracellular (Potential).|Cadherin 6.		SNV	CELSR3,missense_variant,p.Arg892His,ENST00000544264,;CELSR3,missense_variant,p.Arg892His,ENST00000164024,NM_001407.2;NCKIPSD,downstream_gene_variant,,ENST00000341520,;RP11-148G20.1,upstream_gene_variant,,ENST00000421275,;	uc003cul.2	c.2675G>A	2956/11956	1	1			c.2675G>A						3	SNP	c.(2674-2676)CGT>CAT	3	3			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11	Broad	cadherin EGF LAG seven-pass G-type receptor 3			48697393		0.363	ENSG00000008300	3163	g.chr3:48697393C>T	homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding							132.221431	KEEP	23	22	-1	28	16	23	22	-1	132.221431	28	16	0.5	1	0	0	0	0	1	0	0	0	--	--		0	T			CELSR3_uc003cuf.1_Missense_Mutation_p.R962H	193	GBM-27-1834-TP	p.R892H	C	ATAGGTGATACGAGCATTCTC	NM_001407	NP_001398	48697393	Q9NYQ7	CELR3_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	2956	-	T	T			Missense_Mutation	892			Extracellular (Potential).|Cadherin 6.			
CELSR3	0	broad.mit.edu	GRCh37	3	48694272	48694272	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01	TCGA-76-4926-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000164024.4:c.4258C>T	p.Arg1420Cys	p.R1420C	ENST00000164024	NM_001407.2	1420	Cgc/Tgc	0			1			A	R/C	uc003cul.2	protein_coding	YES	CCDS2775.1			4258/9939									ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11	c.(4258-4260)CGC>TGC			Gene3D:2gy5A03,PROSITE_profiles:PS50026,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF38,SMART_domains:SM00181	cadherin EGF LAG seven-pass G-type receptor 3				ENSP00000164024		Feb-35									COSM3408726	Feb-35	.		ENST00000164024	Transcript			homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	ENSG00000008300	g.chr3:48694272G>A	3230			MODERATE		2.44	medium	getma.org/?cm=msa&ty=f&p=CELR3_HUMAN&rb=1375&re=1433&var=R1420C	NA	getma.org/?cm=var&var=hg19,3,48694272,G,A&fts=all	R1420C	--	--	1																																		CELSR3_uc003cuf.1_Missense_Mutation_p.R1490C	1	1		probably_damaging(0.97)	p.R1420C	NM_001407	NP_001398		deleterious(0)	1	CELR3_HUMAN	CELSR3	HGNC	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	B4DSQ9_HUMAN		2	4539	-			UPI00001AE5A6	1420			Extracellular (Potential).|EGF-like 1; calcium-binding.		SNV	CELSR3,missense_variant,p.Arg1420Cys,ENST00000544264,;CELSR3,missense_variant,p.Arg1420Cys,ENST00000164024,NM_001407.2;	uc003cul.2	c.4258C>T	4539/11956	1	1			c.4258C>T						3	SNP	c.(4258-4260)CGC>TGC	56	56			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11	Broad	cadherin EGF LAG seven-pass G-type receptor 3			48694272		0.672	ENSG00000008300	3163	g.chr3:48694272G>A	homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding							6.820563	KEEP	1	5	-1	6	4	1	5	-1	7.178337	6	4	0.3	1	0	0	0	0	1	0	0	0	--	--		0	A			CELSR3_uc003cuf.1_Missense_Mutation_p.R1490C	266	GBM-76-4926-TP	p.R1420C	G	CAGCGGCAGCGCAGGCCAGCG	NM_001407	NP_001398	48694272	Q9NYQ7	CELR3_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	2	4539	-	A	A			Missense_Mutation	1420			Extracellular (Potential).|EGF-like 1; calcium-binding.			
CELSR3	1951		GRCh37	3	48685382	48685382	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000164024.4:c.7021C>T	p.Arg2341Cys	p.R2341C	ENST00000164024	NM_001407.2	2341	Cgt/Tgt	0																																																																																																																																																																																																																																												
CENPC	1060		GRCh37	4	68396616	68396616	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000273853.6:c.248C>T	p.Pro83Leu	p.P83L	ENST00000273853	NM_001812.2	83	cCa/cTa	0																																																																																																																																																																																																																																												
CENPE	1062	broad.mit.edu	GRCh37	4	104079809	104079809	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01	TCGA-06-0744-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265148.3:c.2836G>A	p.Asp946Asn	p.D946N	ENST00000265148	NM_001813.2	946	Gac/Aac	0			1			T	D/N	uc003hxb.1	protein_coding	YES	CCDS34042.1			2836/8106									ovary(5)|breast(4)	9	c.(2836-2838)GAC>AAC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF384	centromere protein E				ENSP00000265148		23/49									COSM2151622,COSM2151621	23/49	.		ENST00000265148	Transcript	1		blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	ENSG00000138778	g.chr4:104079809C>T	1856			MODERATE		1.9	low	getma.org/?cm=msa&ty=f&p=CENPE_HUMAN&rb=641&re=1119&var=D946N	NA	getma.org/?cm=var&var=hg19,4,104079809,C,T&fts=all	D946N	--	--	1																																		CENPE_uc003hxc.1_Missense_Mutation_p.D921N	1,1	1		probably_damaging(0.972)	p.D946N	NM_001813	NP_001804			1,1	CENPE_HUMAN	CENPE	HGNC	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	D6RBW0_HUMAN		23	2926	-			UPI000020B28A	946			Potential.		SNV	CENPE,missense_variant,p.Asp946Asn,ENST00000265148,NM_001813.2;CENPE,missense_variant,p.Asp921Asn,ENST00000380026,NM_001286734.1;CENPE,missense_variant,p.Asp946Asn,ENST00000503705,;	uc003hxb.1	c.2836G>A	2926/8612	2	2			c.2836G>A						4	SNP	c.(2836-2838)GAC>AAC	40	40			ovary(5)|breast(4)	9	Broad	centromere protein E			104079809		0.333	ENSG00000138778	3170	g.chr4:104079809C>T	blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity							72.284769	KEEP	19	7	-1	22	15	19	7	-1	72.662232	22	15	0.413793	1	0	0	0	0	1	0	0	0	--	--		0	T			CENPE_uc003hxc.1_Missense_Mutation_p.D921N	66	GBM-06-0744-TP	p.D946N	C	TTGAGTTGGTCCCTCTCAATT	NM_001813	NP_001804	104079809	Q02224	CENPE_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	23	2926	-	T	T			Missense_Mutation	946			Potential.			
CENPE	0	broad.mit.edu	GRCh37	4	104068560	104068560	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-0817-01	TCGA-14-0817-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265148.3:c.4087G>T	p.Val1363Phe	p.V1363F	ENST00000265148	NM_001813.2	1363	Gtt/Ttt	0			1			A	V/F	uc003hxb.1	protein_coding	YES	CCDS34042.1			4087/8106									ovary(5)|breast(4)	9	c.(4087-4089)GTT>TTT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF384	centromere protein E				ENSP00000265148		29/49									COSM2154834,COSM2154833	29/49	.		ENST00000265148	Transcript	1		blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	ENSG00000138778	g.chr4:104068560C>A	1856			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=CENPE_HUMAN&rb=1320&re=1519&var=V1363F	NA	getma.org/?cm=var&var=hg19,4,104068560,C,A&fts=all	V1363F	--	--	1																																		CENPE_uc003hxc.1_Missense_Mutation_p.V1338F	1,1	1		benign(0.006)	p.V1363F	NM_001813	NP_001804			1,1	CENPE_HUMAN	CENPE	HGNC	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	D6RBW0_HUMAN		29	4177	-			UPI000020B28A	1363			Potential.		SNV	CENPE,missense_variant,p.Val1363Phe,ENST00000265148,NM_001813.2;CENPE,missense_variant,p.Val1338Phe,ENST00000380026,NM_001286734.1;CENPE,downstream_gene_variant,,ENST00000503705,;CENPE,upstream_gene_variant,,ENST00000515478,;	uc003hxb.1	c.4087G>T	4177/8612	1	1			c.4087G>T						4	SNP	c.(4087-4089)GTT>TTT	54	54			ovary(5)|breast(4)	9	Broad	centromere protein E			104068560		0.343	ENSG00000138778	3170	g.chr4:104068560C>A	blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity							205.509052	KEEP	41	35	0.460526316	96	52	41	35	0.460526316	209.990875	96	52	0.341584	1	0	0	0	0	1	0	0	0	--	--		0	A			CENPE_uc003hxc.1_Missense_Mutation_p.V1338F	139	GBM-14-0817-TP	p.V1363F	C	TCATGTTTAACTTCAAGGGCT	NM_001813	NP_001804	104068560	Q02224	CENPE_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	29	4177	-	A	A			Missense_Mutation	1363			Potential.			
CENPE	0	broad.mit.edu	GRCh37	4	104117134	104117134	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-32-2491-01	TCGA-32-2491-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265148.3:c.300A>G	p.Glu100=	p.E100=	ENST00000265148	NM_001813.2	100	gaA/gaG	0			1			C	E	uc003hxb.1	protein_coding	YES	CCDS34042.1			300/8106									ovary(5)|breast(4)	9	c.(298-300)GAA>GAG			Gene3D:3.40.850.10,Pfam_domain:PF00225,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF384,SMART_domains:SM00129,Superfamily_domains:SSF52540	centromere protein E				ENSP00000265148		Apr-49									COSM3408956,COSM3408955	Apr-49	.		ENST00000265148	Transcript	1		blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	ENSG00000138778	g.chr4:104117134T>C	1856			LOW								--	--	1																																		CENPE_uc003hxc.1_Silent_p.E100E	1,1	1			p.E100E	NM_001813	NP_001804			1,1	CENPE_HUMAN	CENPE	HGNC	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	D6RBW0_HUMAN		4	390	-			UPI000020B28A	100			Kinesin-motor.		SNV	CENPE,synonymous_variant,p.=,ENST00000265148,NM_001813.2;CENPE,synonymous_variant,p.=,ENST00000380026,NM_001286734.1;CENPE,synonymous_variant,p.=,ENST00000503705,;CENPE,synonymous_variant,p.=,ENST00000514974,;	uc003hxb.1	c.300A>G	390/8612	3	3			c.300A>G						4	SNP	c.(298-300)GAA>GAG	3	3			ovary(5)|breast(4)	9	Broad	centromere protein E			104117134		0.348	ENSG00000138778	3170	g.chr4:104117134T>C	blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity							-2.787387	KEEP	0	4	-1	19	21	0	4	-1	6.36265	19	21	0.047619	1	0	0	0	0	0	0	1	0	--	--		0	C			CENPE_uc003hxc.1_Silent_p.E100E	235	GBM-32-2491-TP	p.E100E	T	CCAAATGATCTTCTGAACCCA	NM_001813	NP_001804	104117134	Q02224	CENPE_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	4	390	-	C	C			Silent	100			Kinesin-motor.			
CENPE	0	broad.mit.edu	GRCh37	4	104044141	104044141	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-2632-01	TCGA-32-2632-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265148.3:c.7030A>G	p.Lys2344Glu	p.K2344E	ENST00000265148	NM_001813.2	2344	Aaa/Gaa	0			1			C	K/E	uc003hxb.1	protein_coding	YES	CCDS34042.1			7030/8106									ovary(5)|breast(4)	9	c.(7030-7032)AAA>GAA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF384	centromere protein E				ENSP00000265148		43/49									COSM3408954,COSM3408953	43/49	.		ENST00000265148	Transcript	1		blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	ENSG00000138778	g.chr4:104044141T>C	1856			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=CENPE_HUMAN&rb=2061&re=2700&var=K2344E	NA	getma.org/?cm=var&var=hg19,4,104044141,T,C&fts=all	K2344E	--	--	1																																		CENPE_uc003hxc.1_Missense_Mutation_p.K2223E	1,1	1		benign(0.004)	p.K2344E	NM_001813	NP_001804			1,1	CENPE_HUMAN	CENPE	HGNC	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	D6RBW0_HUMAN		43	7120	-			UPI000020B28A	2344			Kinetochore-binding domain.|Potential.		SNV	CENPE,missense_variant,p.Lys2344Glu,ENST00000265148,NM_001813.2;CENPE,missense_variant,p.Lys2223Glu,ENST00000380026,NM_001286734.1;CENPE,upstream_gene_variant,,ENST00000509823,;	uc003hxb.1	c.7030A>G	7120/8612	3	3			c.7030A>G						4	SNP	c.(7030-7032)AAA>GAA	57	57			ovary(5)|breast(4)	9	Broad	centromere protein E			104044141		0.378	ENSG00000138778	3170	g.chr4:104044141T>C	blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity							190.435324	KEEP	35	25	-1	73	64	35	25	-1	196.631533	73	64	0.306452	1	0	0	0	0	1	0	0	0	--	--		0	C			CENPE_uc003hxc.1_Missense_Mutation_p.K2223E	240	GBM-32-2632-TP	p.K2344E	T	TGGTAGTTTTTAAATAGTTTT	NM_001813	NP_001804	104044141	Q02224	CENPE_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	43	7120	-	C	C			Missense_Mutation	2344			Kinetochore-binding domain.|Potential.			
CENPE	1062		GRCh37	4	104065619	104065619	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000265148.3:c.5014C>T	p.Gln1672Ter	p.Q1672*	ENST00000265148	NM_001813.2	1672	Cag/Tag	0																																																																																																																																																																																																																																												
CENPF	1063	broad.mit.edu	GRCh37	1	214787153	214787153	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-02-0055-01	TCGA-02-0055-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366955.3:c.56A>G	p.Lys19Arg	p.K19R	ENST00000366955	NM_016343.3	19	aAa/aGa	0			1			G	K/R	uc001hkm.2	protein_coding	YES	CCDS31023.1			56/9345								p.K19R(1)	ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13	c.(55-57)AAA>AGA			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF10481,hmmpanther:PTHR18874	centromere protein F				ENSP00000355922		20-Feb									COSM35339	20-Feb	.		ENST00000366955	Transcript			cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	ENSG00000117724	g.chr1:214787153A>G	1857			MODERATE								--	--	1																																			1	1		probably_damaging(0.994)	p.K19R	NM_016343	NP_057427			1	CENPF_HUMAN	CENPF	HGNC	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)			2	230	+			UPI00001AE985	19			Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).|Potential.		SNV	CENPF,missense_variant,p.Lys19Arg,ENST00000366955,NM_016343.3;CENPF,non_coding_transcript_exon_variant,,ENST00000464322,;CENPF,non_coding_transcript_exon_variant,,ENST00000495259,;ABHD17AP3,upstream_gene_variant,,ENST00000503096,;RP11-365D23.2,upstream_gene_variant,,ENST00000436983,;	uc001hkm.2	c.56A>G	224/10307	3	3			c.56A>G						1	SNP	c.(55-57)AAA>AGA	49	49		p.K19R(1)	ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13	Broad	centromere protein F			214787153		0.428	ENSG00000117724	3171	g.chr1:214787153A>G	cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	Colon(80;575 1284 11000 14801 43496)			Colon(80;575 1284 11000 14801 43496)			178.041814	KEEP	22	34	-1	56	46	22	34	-1	180.88193	56	46	0.353333	1	0	0	0	0	1	0	0	0	--	--		0	G				4	GBM-02-0055-TP	p.K19R	A	GCTCTTCAGAAAATTCAAGAG	NM_016343	NP_057427	214787153	P49454	CENPF_HUMAN	0		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	2	230	+	G	G			Missense_Mutation	19			Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).|Potential.			
CENPF	1063	broad.mit.edu	GRCh37	1	214815836	214815836	+	synonymous_variant	Silent	SNP	C	C	T	rs139914723	by1000genomes	TCGA-06-0644-01	TCGA-06-0644-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366955.3:c.4155C>T	p.Asp1385=	p.D1385=	ENST00000366955	NM_016343.3	1385	gaC/gaT	0		T:0.0008	1	T:0		T	D	uc001hkm.2	protein_coding	YES	CCDS31023.1			4155/9345									ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13	c.(4153-4155)GAC>GAT			hmmpanther:PTHR18874	centromere protein F		T:0		ENSP00000355922	T:0	20-Dec	6.59E-05	0.000592	8.74E-05					7.19E-05	rs139914723,COSM2151196	20-Dec	common_variant		ENST00000366955	Transcript		T:0.0002	cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	ENSG00000117724	g.chr1:214815836C>T	1857			LOW								--	--	1																																			0,1	1			p.D1385D	NM_016343	NP_057427	T:0		0,1	CENPF_HUMAN	CENPF	HGNC	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)			12	4329	+			UPI00001AE985	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					SNV	CENPF,synonymous_variant,p.=,ENST00000366955,NM_016343.3;	uc001hkm.2	c.4155C>T	4323/10307	1	1			c.4155C>T						1	SNP	c.(4153-4155)GAC>GAT	7	7			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13	Broad	centromere protein F			214815836		0.423	ENSG00000117724	3171	g.chr1:214815836C>T	cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	Colon(80;575 1284 11000 14801 43496)			Colon(80;575 1284 11000 14801 43496)			89.169375	KEEP	14	22	-1	34	38	14	22	-1	91.285979	34	38	0.340426	1	0	0	0	0	0	0	1	0	--	--		0	T				58	GBM-06-0644-TP	p.D1385D	C	CTCCATTGGACGAGAGTAATT	NM_016343	NP_057427	214815836	P49454	CENPF_HUMAN	0		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	12	4329	+	T	T			Silent	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						
CENPF	1063	broad.mit.edu	GRCh37	1	214837072	214837072	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366955.3:c.9280C>T	p.Arg3094Ter	p.R3094*	ENST00000366955	NM_016343.3	3094	Cga/Tga	0			1			T	R/*	uc001hkm.2	protein_coding	YES	CCDS31023.1			9280/9345									ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13	c.(9280-9282)CGA>TGA				centromere protein F				ENSP00000355922		20/20									COSM3400290	20/20	.		ENST00000366955	Transcript			cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	ENSG00000117724	g.chr1:214837072C>T	1857			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,214837072,C,T&fts=all	R3190*	--	--	1																																			1	1			p.R3094*	NM_016343	NP_057427			1	CENPF_HUMAN	CENPF	HGNC	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)			20	9454	+			UPI00001AE985	3190					SNV	CENPF,stop_gained,p.Arg3094Ter,ENST00000366955,NM_016343.3;	uc001hkm.2	c.9280C>T	9448/10307	5	2			c.9280C>T						1	SNP	c.(9280-9282)CGA>TGA	17	17			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13	Broad	centromere protein F			214837072		0.582	ENSG00000117724	3171	g.chr1:214837072C>T	cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	Colon(80;575 1284 11000 14801 43496)			Colon(80;575 1284 11000 14801 43496)			96.968873	KEEP	12	20	-1	7	3	12	20	-1	99.50447	7	3	0.777778	1	0	0	0	0	0	1	0	0	--	--		0	T				102	GBM-06-5858-TP	p.R3094*	C	CAAGCGAGGCCGACTTGTCCC	NM_016343	NP_057427	214837072	P49454	CENPF_HUMAN	0		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	20	9454	+	T	T			Nonsense_Mutation	3190						
CENPF	0	broad.mit.edu	GRCh37	1	214816089	214816089	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01	TCGA-19-2625-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366955.3:c.4408G>A	p.Glu1470Lys	p.E1470K	ENST00000366955	NM_016343.3	1470	Gag/Aag	0			1			A	E/K	uc001hkm.2	protein_coding	YES	CCDS31023.1			4408/9345									ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13	c.(4408-4410)GAG>AAG			hmmpanther:PTHR18874	centromere protein F				ENSP00000355922		20-Dec									COSM3400289	20-Dec	.		ENST00000366955	Transcript			cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	ENSG00000117724	g.chr1:214816089G>A	1857			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=CENPF_HUMAN&rb=1489&re=1688&var=E1566K	NA	getma.org/?cm=var&var=hg19,1,214816089,G,A&fts=all	E1566K	--	--	1																																			1	1		possibly_damaging(0.54)	p.E1470K	NM_016343	NP_057427			1	CENPF_HUMAN	CENPF	HGNC	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)			12	4582	+			UPI00001AE985	1566		Missing.	1-2.|2 X 96 AA approximate tandem repeats.		SNV	CENPF,missense_variant,p.Glu1470Lys,ENST00000366955,NM_016343.3;	uc001hkm.2	c.4408G>A	4576/10307	2	2			c.4408G>A						1	SNP	c.(4408-4410)GAG>AAG	21	21			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13	Broad	centromere protein F			214816089		0.478	ENSG00000117724	3171	g.chr1:214816089G>A	cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	Colon(80;575 1284 11000 14801 43496)			Colon(80;575 1284 11000 14801 43496)			178.434718	KEEP	27	34	-1	41	35	27	34	-1	178.607745	41	35	0.460317	1	0	0	0	0	1	0	0	0	--	--		0	A				165	GBM-19-2625-TP	p.E1470K	G	GGGCTTGGAGGAGGGGCTCGT	NM_016343	NP_057427	214816089	P49454	CENPF_HUMAN	0		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	12	4582	+	A	A			Missense_Mutation	1566		Missing.	1-2.|2 X 96 AA approximate tandem repeats.			
CENPI	0	broad.mit.edu	GRCh37	X	100382542	100382542	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-5954-01	TCGA-19-5954-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372927.1:c.962A>G	p.Glu321Gly	p.E321G	ENST00000372927	NM_006733.2	321	gAa/gGa	0			1			G	E/G	uc004egx.2	protein_coding	YES	CCDS14479.1			962/2271									skin(1)	1	c.(961-963)GAA>GGA			Pfam_domain:PF07778,hmmpanther:PTHR15408	centromere protein I				ENSP00000362018		21-Oct									COSM2156721	21-Oct	.		ENST00000372927	Transcript			CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	ENSG00000102384	g.chrX:100382542A>G	3968			MODERATE		1.95	medium	getma.org/?cm=msa&ty=f&p=CENPI_HUMAN&rb=1&re=522&var=E321G	NA	getma.org/?cm=var&var=hg19,X,100382542,A,G&fts=all	E321G	--	--	1																																		CENPI_uc011mrg.1_Missense_Mutation_p.E321G|CENPI_uc004egy.2_Missense_Mutation_p.E321G	1	1		benign(0.015)	p.E321G	NM_006733	NP_006724		tolerated(0.11)	1	CENPI_HUMAN	CENPI	HGNC	Q92674	CENPI_HUMAN			Q5JX02_HUMAN,Q5JX01_HUMAN		10	1232	+			UPI000004A007	321					SNV	CENPI,missense_variant,p.Glu321Gly,ENST00000372927,NM_006733.2;CENPI,missense_variant,p.Glu321Gly,ENST00000423383,;CENPI,missense_variant,p.Glu321Gly,ENST00000218507,;CENPI,missense_variant,p.Glu321Gly,ENST00000372926,;	uc004egx.2	c.962A>G	1239/3262	3	3			c.962A>G						23	SNP	c.(961-963)GAA>GGA	11	11			skin(1)	1	Broad	centromere protein I			100382542		0.353	ENSG00000102384	3173	g.chrX:100382542A>G	CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding							166.415158	KEEP	22	28	-1	39	34	22	28	-1	167.249531	39	34	0.408696	1	0	0	0	0	1	0	0	0	--	--		0	G			CENPI_uc011mrg.1_Missense_Mutation_p.E321G|CENPI_uc004egy.2_Missense_Mutation_p.E321G	174	GBM-19-5954-TP	p.E321G	A	TACACTAAAGAATGTGGAAAA	NM_006733	NP_006724	100382542	Q92674	CENPI_HUMAN	0			10	1232	+	G	G			Missense_Mutation	321						
CENPU	0	broad.mit.edu	GRCh37	4	185631267	185631267	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-14-0871-01	TCGA-14-0871-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281453.5:c.756T>C	p.Asn252=	p.N252=	ENST00000281453	NM_024629.3	252	aaT/aaC	0			1			G	N	uc003iwq.2	protein_coding	YES	CCDS3838.1			756/1257										0	c.(754-756)AAT>AAC			Pfam_domain:PF13097,hmmpanther:PTHR32222,hmmpanther:PTHR32222:SF1	MLF1 interacting protein				ENSP00000281453		13-Aug									COSM3409193	13-Aug	.		ENST00000281453	Transcript			CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm		ENSG00000151725	g.chr4:185631267A>G	21348			LOW								--	--	1																																		MLF1IP_uc003iwp.2_RNA|MLF1IP_uc003iwr.1_Silent_p.N252N	1	1			p.N252N	NM_024629	NP_078905			1	CENPU_HUMAN	CENPU	HGNC	Q71F23	CENPU_HUMAN		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)	D6R9S4_HUMAN		8	826	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)	UPI00001BFAF6	252					SNV	CENPU,synonymous_variant,p.=,ENST00000281453,NM_024629.3;CENPU,synonymous_variant,p.=,ENST00000541971,;CENPU,non_coding_transcript_exon_variant,,ENST00000506535,;CENPU,synonymous_variant,p.=,ENST00000510146,;	uc003iwq.2	c.756T>C	827/1998	4	4			c.756T>C						4	SNP	c.(754-756)AAT>AAC	24	24				0	Broad	MLF1 interacting protein			185631267		0.303	ENSG00000151725	9437	g.chr4:185631267A>G	CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm								142.987453	KEEP	24	23	-1	45	28	24	23	-1	143.859736	45	28	0.4	1	0	0	0	0	0	0	1	0	--	--		0	G			MLF1IP_uc003iwp.2_RNA|MLF1IP_uc003iwr.1_Silent_p.N252N	141	GBM-14-0871-TP	p.N252N	A	GCAAAACAATATTCAACTCCT	NM_024629	NP_078905	185631267	Q71F23	CENPU_HUMAN	0		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)	8	826	-	G	G		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)	Silent	252						
CEP104	9731	broad.mit.edu	GRCh37	1	3756341	3756341	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T			TCGA-06-2565-01	TCGA-06-2565-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378230.3:c.567-1G>A		p.X189_splice	ENST00000378230	NM_014704.3	189		0			1			T		uc001aky.2	protein_coding	YES	CCDS30571.1			567/2778										0	c.e7-1				glycine-, glutamate-,				ENSP00000367476											COSM3400727		.		ENST00000378230	Transcript				centriole	binding	ENSG00000116198	g.chr1:3756341C>T	24866			HIGH	21-Jun							--	--	1																																		KIAA0562_uc010nzm.1_Splice_Site|KIAA0562_uc001akz.2_Splice_Site_p.R189_splice	1	1			p.R189_splice	NM_014704	NP_055519			1	CE104_HUMAN	CEP104	HGNC	O60308	CE104_HUMAN		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)			7	926	-	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)	UPI0000139AA8						SNV	CEP104,splice_acceptor_variant,,ENST00000378230,NM_014704.3;CEP104,splice_acceptor_variant,,ENST00000428079,;CEP104,downstream_gene_variant,,ENST00000378223,;CEP104,upstream_gene_variant,,ENST00000443466,;CEP104,upstream_gene_variant,,ENST00000460038,;CEP104,splice_acceptor_variant,,ENST00000494653,;CEP104,splice_acceptor_variant,,ENST00000494951,;	uc001aky.2	c.567_splice	-/6424	5	2			c.567_splice						1	SNP	c.e7-1	45	45				0	Broad	glycine-, glutamate-,			3756341		0.423	ENSG00000116198	8045	g.chr1:3756341C>T		centriole	binding							-42.286425	KEEP	1	3	-1	86	123	1	3	-1	7.365691	86	123	0.020725	1	0	0	0	0	0	0	0	1	--	--		0	T			KIAA0562_uc010nzm.1_Splice_Site|KIAA0562_uc001akz.2_Splice_Site_p.R189_splice	88	GBM-06-2565-TP	p.R189_splice	C	GTCAGATTTCCTAAAGGGAAG	NM_014704	NP_055519	3756341	O60308	CE104_HUMAN	0		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)	7	926	-	T	T	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)	Splice_Site							
CEP104	0	broad.mit.edu	GRCh37	1	3761888	3761888	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-28-5211-01	TCGA-28-5211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378230.3:c.454G>C	p.Gly152Arg	p.G152R	ENST00000378230	NM_014704.3	152	Gga/Cga	0			1			G	G/R	uc001aky.2	protein_coding	YES	CCDS30571.1			454/2778										0	c.(454-456)GGA>CGA			hmmpanther:PTHR13371:SF0,hmmpanther:PTHR13371,Superfamily_domains:SSF49785	glycine-, glutamate-,				ENSP00000367476		22-May									COSM3400728,COSM3400729	22-May	.		ENST00000378230	Transcript				centriole	binding	ENSG00000116198	g.chr1:3761888C>G	24866			MODERATE		2.9	medium	getma.org/?cm=msa&ty=f&p=CE104_HUMAN&rb=1&re=200&var=G152R	NA	getma.org/?cm=var&var=hg19,1,3761888,C,G&fts=all	G152R	--	--	1																																		KIAA0562_uc010nzm.1_RNA|KIAA0562_uc001akz.2_Missense_Mutation_p.G152R	1,1	1		probably_damaging(0.999)	p.G152R	NM_014704	NP_055519		deleterious(0)	1,1	CE104_HUMAN	CEP104	HGNC	O60308	CE104_HUMAN		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)			5	813	-	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)	UPI0000139AA8	152					SNV	CEP104,missense_variant,p.Gly152Arg,ENST00000378230,NM_014704.3;CEP104,missense_variant,p.Gly152Arg,ENST00000378223,;CEP104,missense_variant,p.Gly94Arg,ENST00000428079,;CEP104,non_coding_transcript_exon_variant,,ENST00000494653,;CEP104,non_coding_transcript_exon_variant,,ENST00000494951,;	uc001aky.2	c.454G>C	779/6424	3	3			c.454G>C						1	SNP	c.(454-456)GGA>CGA	55	55				0	Broad	glycine-, glutamate-,			3761888		0.289	ENSG00000116198	8045	g.chr1:3761888C>G		centriole	binding							-31.974291	KEEP	1	6	-1	93	100	1	6	-1	6.739954	93	100	0.03125	1	0	0	0	0	1	0	0	0	--	--		0	G			KIAA0562_uc010nzm.1_RNA|KIAA0562_uc001akz.2_Missense_Mutation_p.G152R	219	GBM-28-5211-TP	p.G152R	C	GCAGGGTCTCCAATGATATTT	NM_014704	NP_055519	3761888	O60308	CE104_HUMAN	0		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)	5	813	-	G	G	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)	Missense_Mutation	152						
CEP104	0	broad.mit.edu	GRCh37	1	3732029	3732029	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-1970-01	TCGA-32-1970-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378230.3:c.2715C>G	p.Ser905Arg	p.S905R	ENST00000378230	NM_014704.3	905	agC/agG	0			1			C	S/R	uc001aky.2	protein_coding	YES	CCDS30571.1			2715/2778										0	c.(2713-2715)AGC>AGG				glycine-, glutamate-,				ENSP00000367476		22/22									COSM3400724	22/22	.		ENST00000378230	Transcript				centriole	binding	ENSG00000116198	g.chr1:3732029G>C	24866			MODERATE		2.35	medium	getma.org/?cm=msa&ty=f&p=CE104_HUMAN&rb=801&re=925&var=S905R	NA	getma.org/?cm=var&var=hg19,1,3732029,G,C&fts=all	S905R	--	--	1																																		KIAA0562_uc010nzm.1_RNA	1	1		probably_damaging(0.956)	p.S905R	NM_014704	NP_055519		deleterious(0)	1	CE104_HUMAN	CEP104	HGNC	O60308	CE104_HUMAN		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)			22	3074	-	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)	UPI0000139AA8	905					SNV	CEP104,missense_variant,p.Ser905Arg,ENST00000378230,NM_014704.3;CEP104,downstream_gene_variant,,ENST00000438539,;CEP104,non_coding_transcript_exon_variant,,ENST00000484420,;	uc001aky.2	c.2715C>G	3040/6424	3	3			c.2715C>G						1	SNP	c.(2713-2715)AGC>AGG	6	6				0	Broad	glycine-, glutamate-,			3732029		0.642	ENSG00000116198	8045	g.chr1:3732029G>C		centriole	binding							63.12051	KEEP	11	11	-1	27	16	11	11	-1	64.274816	27	16	0.345455	1	0	0	0	0	1	0	0	0	--	--		0	C			KIAA0562_uc010nzm.1_RNA	228	GBM-32-1970-TP	p.S905R	G	TGGGGATCTTGCTTCCGGCCT	NM_014704	NP_055519	3732029	O60308	CE104_HUMAN	0		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)	22	3074	-	C	C	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)	Missense_Mutation	905						
CEP104	0	broad.mit.edu	GRCh37	1	3746424	3746424	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1986-01	TCGA-32-1986-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378230.3:c.1974C>T	p.Asn658=	p.N658=	ENST00000378230	NM_014704.3	658	aaC/aaT	0			1			A	N	uc001aky.2	protein_coding	YES	CCDS30571.1			1974/2778										0	c.(1972-1974)AAC>AAT			hmmpanther:PTHR13371:SF0,hmmpanther:PTHR13371,Gene3D:1.25.10.10	glycine-, glutamate-,				ENSP00000367476		14/22									COSM3400726	14/22	.		ENST00000378230	Transcript				centriole	binding	ENSG00000116198	g.chr1:3746424G>A	24866			LOW								--	--	1																																		KIAA0562_uc010nzm.1_RNA	1	1			p.N658N	NM_014704	NP_055519			1	CE104_HUMAN	CEP104	HGNC	O60308	CE104_HUMAN		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)			14	2333	-	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)	UPI0000139AA8	658					SNV	CEP104,synonymous_variant,p.=,ENST00000378230,NM_014704.3;CEP104,upstream_gene_variant,,ENST00000461667,;CEP104,upstream_gene_variant,,ENST00000438539,;CEP104,downstream_gene_variant,,ENST00000460038,;CEP104,non_coding_transcript_exon_variant,,ENST00000495701,;CEP104,downstream_gene_variant,,ENST00000494653,;	uc001aky.2	c.1974C>T	2299/6424	2	2			c.1974C>T						1	SNP	c.(1972-1974)AAC>AAT	47	47				0	Broad	glycine-, glutamate-,			3746424		0.463	ENSG00000116198	8045	g.chr1:3746424G>A		centriole	binding							173.577698	KEEP	37	38	-1	118	128	37	38	-1	191.170464	118	128	0.244068	1	0	0	0	0	0	0	1	0	--	--		0	A			KIAA0562_uc010nzm.1_RNA	233	GBM-32-1986-TP	p.N658N	G	TGTAGAGAATGTTCCTGCGTG	NM_014704	NP_055519	3746424	O60308	CE104_HUMAN	0		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)	14	2333	-	A	A	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)	Silent	658						
CEP120	0	broad.mit.edu	GRCh37	5	122754205	122754205	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-87-5896-01	TCGA-87-5896-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306467.5:c.54G>A	p.Arg18=	p.R18=	ENST00000306467		18	cgG/cgA	0			1			T	R	uc003ktk.2	protein_coding	YES	CCDS4134.2			54/2961									ovary(1)	1	c.(52-54)CGG>CGA			hmmpanther:PTHR21574,Pfam_domain:PF12416,Gene3D:2.60.40.150,Superfamily_domains:SSF49562	coiled-coil domain containing 100				ENSP00000303058		20-Feb									COSM3409686,COSM3409687	20-Feb	.		ENST00000306467	Transcript	1			centrosome		ENSG00000168944	g.chr5:122754205C>T	26690			LOW								--	--	1																																		CEP120_uc011cwq.1_5'UTR|CEP120_uc010jcz.1_5'UTR	1,1	1			p.R18R	NM_153223	NP_694955			1,1	CE120_HUMAN	CEP120	HGNC	Q8N960	CE120_HUMAN			F8VRV0_HUMAN,D6REX9_HUMAN,D6RC69_HUMAN		3	136	-			UPI0000D79C73	18					SNV	CEP120,missense_variant,p.Ala55Thr,ENST00000515110,;CEP120,synonymous_variant,p.=,ENST00000306467,;CEP120,synonymous_variant,p.=,ENST00000328236,NM_153223.3;CEP120,synonymous_variant,p.=,ENST00000395431,;CEP120,synonymous_variant,p.=,ENST00000510582,;CEP120,5_prime_UTR_variant,,ENST00000306481,NM_001166226.1;CEP120,5_prime_UTR_variant,,ENST00000508442,;CEP120,synonymous_variant,p.=,ENST00000508138,;CEP120,synonymous_variant,p.=,ENST00000513565,;	uc003ktk.2	c.54G>A	359/4900	1	1			c.54G>A						5	SNP	c.(52-54)CGG>CGA	1	1			ovary(1)	1	Broad	coiled-coil domain containing 100			122754205		0.353	ENSG00000168944	3186	g.chr5:122754205C>T		centrosome								-2.092623	KEEP	1	3	-1	17	25	1	3	-1	6.379393	17	25	0.068182	1	0	0	0	0	0	0	1	0	--	--		0	T			CEP120_uc011cwq.1_5'UTR|CEP120_uc010jcz.1_5'UTR	291	GBM-87-5896-TP	p.R18R	C	TGGGGAAATGCCGACCTGGAG	NM_153223	NP_694955	122754205	Q8N960	CE120_HUMAN	0			3	136	-	T	T			Silent	18						
CEP128	0	broad.mit.edu	GRCh37	14	81329142	81329142	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01	TCGA-32-1970-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281129.3:c.721C>T	p.Arg241Cys	p.R241C	ENST00000281129	NM_152446.3	241	Cgc/Tgc	0			1			A	R/C	uc001xux.2	protein_coding		CCDS32130.1			721/3285								p.R241C(1)		0	c.(721-723)CGC>TGC			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18937:SF149,hmmpanther:PTHR18937	hypothetical protein LOC145508				ENSP00000281129		24-Aug	4.94E-05			0.000116	0.000151	6.00E-05			rs200105295,COSM39509,COSM3401488	24-Aug	.		ENST00000281129	Transcript				centriole|spindle pole		ENSG00000100629	g.chr14:81329142G>A	20359			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=CE128_HUMAN&rb=201&re=400&var=R241C	NA	getma.org/?cm=var&var=hg19,14,81329142,G,A&fts=all	R241C	--	--	1																																		C14orf145_uc001xuz.2_Missense_Mutation_p.R241C|C14orf145_uc001xuy.1_Missense_Mutation_p.R99C	0,1,1			probably_damaging(0.975)	p.R241C	NM_152446	NP_689659		deleterious(0)	0,1,1	CE128_HUMAN	CEP128	HGNC	Q6ZU80	CE128_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0586)	Q9NS50_HUMAN,Q9HCB0_HUMAN,Q86TS1_HUMAN,G3V3U2_HUMAN,G3V3F4_HUMAN		8	892	-			UPI000022982E	241			Potential.		SNV	CEP128,missense_variant,p.Arg241Cys,ENST00000555265,;CEP128,missense_variant,p.Arg241Cys,ENST00000281129,NM_152446.3;CEP128,missense_variant,p.Arg120Cys,ENST00000554827,;CEP128,missense_variant,p.Arg241Cys,ENST00000216517,;	uc001xux.2	c.721C>T	892/4461	1	1			c.721C>T						14	SNP	c.(721-723)CGC>TGC	52	52		p.R241C(1)		0	Broad	hypothetical protein LOC145508			81329142		0.463	ENSG00000100629	1712	g.chr14:81329142G>A		centriole|spindle pole				1			1	176.392954	KEEP	32	39	-1	57	62	32	39	-1	178.503384	57	62	0.379518	1	0	0	0	0	1	0	0	0	--	--		0	A			C14orf145_uc001xuz.2_Missense_Mutation_p.R241C|C14orf145_uc001xuy.1_Missense_Mutation_p.R99C	228	GBM-32-1970-TP	p.R241C	G	TGATCCTGGCGTCTTTCCACC	NM_152446	NP_689659	81329142	Q6ZU80	CE128_HUMAN	0		BRCA - Breast invasive adenocarcinoma(234;0.0586)	8	892	-	A	A			Missense_Mutation	241			Potential.			
CEP128	0	broad.mit.edu	GRCh37	14	81223256	81223256	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281129.3:c.2593C>T	p.Arg865Cys	p.R865C	ENST00000281129	NM_152446.3	865	Cgc/Tgc	0	A:0		1			A	R/C	uc001xux.2	protein_coding		CCDS32130.1			2593/3285										0	c.(2593-2595)CGC>TGC			hmmpanther:PTHR18937:SF149,hmmpanther:PTHR18937	hypothetical protein LOC145508			A:0.0001	ENSP00000281129		17/24	9.06E-05					0.000155		6.24E-05	rs373994294,COSM3401487	17/24	.		ENST00000281129	Transcript				centriole|spindle pole		ENSG00000100629	g.chr14:81223256G>A	20359			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=CE128_HUMAN&rb=801&re=1000&var=R865C	NA	getma.org/?cm=var&var=hg19,14,81223256,G,A&fts=all	R865C	--	--	1																																		C14orf145_uc010asz.1_RNA	0,1			probably_damaging(0.997)	p.R865C	NM_152446	NP_689659		deleterious(0.02)	0,1	CE128_HUMAN	CEP128	HGNC	Q6ZU80	CE128_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0586)	Q9NS50_HUMAN,Q9HCB0_HUMAN,Q86TS1_HUMAN,G3V3U2_HUMAN,G3V3F4_HUMAN		17	2764	-			UPI000022982E	865					SNV	CEP128,missense_variant,p.Arg865Cys,ENST00000555265,;CEP128,missense_variant,p.Arg865Cys,ENST00000281129,NM_152446.3;CEP128,missense_variant,p.Arg66Cys,ENST00000554728,;CEP128,missense_variant,p.Arg557Cys,ENST00000554502,;	uc001xux.2	c.2593C>T	2764/4461	1	1			c.2593C>T						14	SNP	c.(2593-2595)CGC>TGC	61	61				0	Broad	hypothetical protein LOC145508			81223256		0.289	ENSG00000100629	1712	g.chr14:81223256G>A		centriole|spindle pole				1			1	31.014077	KEEP	7	4	-1	15	13	7	4	-1	32.226625	15	13	0.305556	1	0	0	0	0	1	0	0	0	--	--		0	A			C14orf145_uc010asz.1_RNA	230	GBM-32-1979-TP	p.R865C	G	GCTAACCAGCGATGTGGGTCA	NM_152446	NP_689659	81223256	Q6ZU80	CE128_HUMAN	0		BRCA - Breast invasive adenocarcinoma(234;0.0586)	17	2764	-	A	A			Missense_Mutation	865						
CEP135	0	broad.mit.edu	GRCh37	4	56875926	56875926	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-27-1832-01	TCGA-27-1832-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257287.4:c.2362C>T	p.Arg788Ter	p.R788*	ENST00000257287	NM_025009.4	788	Cga/Tga	0			1			T	R/*	uc003hbi.2	protein_coding	YES	CCDS33986.1			2362/3423									ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	c.(2362-2364)CGA>TGA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF10	centrosome protein 4				ENSP00000257287		19/26	8.24E-06					1.50E-05			rs765207289,COSM3409376	19/26	.		ENST00000257287	Transcript	1		centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	ENSG00000174799	g.chr4:56875926C>T	29086			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,4,56875926,C,T&fts=all	R788*	--	--	1																																		CEP135_uc003hbj.2_Nonsense_Mutation_p.R494*	0,1	1			p.R788*	NM_025009	NP_079285			0,1	CP135_HUMAN	CEP135	HGNC	Q66GS9	CP135_HUMAN					19	2596	+	Glioma(25;0.08)|all_neural(26;0.101)		UPI00003CE420	788			Potential.		SNV	CEP135,stop_gained,p.Arg788Ter,ENST00000257287,NM_025009.4;CEP135,non_coding_transcript_exon_variant,,ENST00000506202,;	uc003hbi.2	c.2362C>T	2486/5562	5	2			c.2362C>T						4	SNP	c.(2362-2364)CGA>TGA	38	38			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	Broad	centrosome protein 4			56875926		0.363	ENSG00000174799	3187	g.chr4:56875926C>T	centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding							77.231048	KEEP	14	17	-1	43	35	14	17	-1	81.034533	43	35	0.292929	1	0	0	0	0	0	1	0	0	--	--		0	T			CEP135_uc003hbj.2_Nonsense_Mutation_p.R494*	191	GBM-27-1832-TP	p.R788*	C	ATTGGTTAATCGAGATCGTGA	NM_025009	NP_079285	56875926	Q66GS9	CP135_HUMAN	0			19	2596	+	T	T	Glioma(25;0.08)|all_neural(26;0.101)		Nonsense_Mutation	788			Potential.			
CEP152	22995	broad.mit.edu	GRCh37	15	49054660	49054660	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-06-0747-01	TCGA-06-0747-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380950.2:c.2490A>C	p.Ile830=	p.I830=	ENST00000380950	NM_001194998.1	830	atA/atC	0			1			G	I	uc001zwy.2	protein_coding	YES	CCDS58361.1			2490/5133									lung(2)	2	c.(2488-2490)ATA>ATC			hmmpanther:PTHR10337,hmmpanther:PTHR10337:SF6	centrosomal protein 152kDa				ENSP00000370337		18/27									COSM2151805,COSM3401779	18/27	.		ENST00000380950	Transcript	1		centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	ENSG00000103995	g.chr15:49054660T>G	29298			LOW								--	--	1																																		CEP152_uc001zwz.2_Silent_p.I830I|CEP152_uc001zxa.1_Silent_p.I737I	1,1	1			p.I830I	NM_014985	NP_055800			1,1	CE152_HUMAN	CEP152	HGNC	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	H0YN91_HUMAN		18	2524	-		all_lung(180;0.0428)	UPI00002378C4	830					SNV	CEP152,synonymous_variant,p.=,ENST00000380950,NM_001194998.1,NM_014985.3;CEP152,synonymous_variant,p.=,ENST00000399334,;CEP152,synonymous_variant,p.=,ENST00000325747,;	uc001zwy.2	c.2490A>C	2678/5635	3	3			c.2490A>C						15	SNP	c.(2488-2490)ATA>ATC	55	55			lung(2)	2	Broad	centrosomal protein 152kDa			49054660		0.358	ENSG00000103995	3188	g.chr15:49054660T>G	centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding							247.532829	KEEP	61	22	-1	66	33	61	22	-1	247.783695	66	33	0.458824	1	0	0	0	0	0	0	1	0	--	--		0	G			CEP152_uc001zwz.2_Silent_p.I830I|CEP152_uc001zxa.1_Silent_p.I737I	68	GBM-06-0747-TP	p.I830I	T	CCTTGATGGCTATGTCCTTCT	NM_014985	NP_055800	49054660	O94986	CE152_HUMAN	0		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	18	2524	-	G	G		all_lung(180;0.0428)	Silent	830						
CEP152	0	broad.mit.edu	GRCh37	15	49076318	49076318	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T			TCGA-14-1829-01	TCGA-14-1829-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380950.2:c.1174-1G>A		p.X392_splice	ENST00000380950	NM_001194998.1			0			1			T		uc001zwy.2	protein_coding	YES	CCDS58361.1			1174/5133									lung(2)	2	c.e10-1				centrosomal protein 152kDa				ENSP00000370337											COSM3401782,COSM3401783		.		ENST00000380950	Transcript	1		centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	ENSG00000103995	g.chr15:49076318C>T	29298			HIGH	26-Sep							--	--	1																																		CEP152_uc001zwz.2_Splice_Site_p.E392_splice|CEP152_uc001zxa.1_Splice_Site_p.E299_splice	1,1	1			p.E392_splice	NM_014985	NP_055800			1,1	CE152_HUMAN	CEP152	HGNC	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	H0YN91_HUMAN		10	1208	-		all_lung(180;0.0428)	UPI00002378C4						SNV	CEP152,splice_acceptor_variant,,ENST00000380950,NM_001194998.1,NM_014985.3;CEP152,splice_acceptor_variant,,ENST00000399334,;CEP152,splice_acceptor_variant,,ENST00000325747,;RP11-485O10.2,non_coding_transcript_exon_variant,,ENST00000558304,;CEP152,splice_acceptor_variant,,ENST00000558337,;CEP152,splice_acceptor_variant,,ENST00000560322,;	uc001zwy.2	c.1174_splice	-/5635	5	2			c.1174_splice						15	SNP	c.e10-1	36	36			lung(2)	2	Broad	centrosomal protein 152kDa			49076318		0.294	ENSG00000103995	3188	g.chr15:49076318C>T	centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding							95.458288	KEEP	20	12	-1	24	28	20	12	-1	96.215941	24	28	0.391892	1	0	0	0	0	0	0	0	1	--	--		0	T			CEP152_uc001zwz.2_Splice_Site_p.E392_splice|CEP152_uc001zxa.1_Splice_Site_p.E299_splice	149	GBM-14-1829-TP	p.E392_splice	C	AAATGTCTTCCTAAATAGAAA	NM_014985	NP_055800	49076318	O94986	CE152_HUMAN	0		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	10	1208	-	T	T		all_lung(180;0.0428)	Splice_Site							
CEP152	22995		GRCh37	15	49054838	49054838	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0165-01	TCGA-06-0165-01																				ENST00000380950.2:c.2312A>G	p.Lys771Arg	p.K771R	ENST00000380950	NM_001194998.1	771	aAg/aGg	0																																																																																																																																																																																																																																												
CEP152	22995		GRCh37	15	49030645	49030645	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000380950.2:c.4934C>T	p.Thr1645Met	p.T1645M	ENST00000380950	NM_001194998.1	1645	aCg/aTg	0																																																																																																																																																																																																																																												
CEP170	0	broad.mit.edu	GRCh37	1	243332957	243332957	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-6701-01	TCGA-06-6701-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366542.1:c.1816T>C	p.Phe606Leu	p.F606L	ENST00000366542	NM_014812.2	606	Ttt/Ctt	0			1			G	F/L	uc001hzs.2	protein_coding	YES	CCDS44339.1			1816/4755									ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	c.(1816-1818)TTT>CTT			hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF17	centrosomal protein 170kDa isoform alpha				ENSP00000355500		20-Dec									COSM3400557,COSM3400556	20-Dec	.		ENST00000366542	Transcript				centriole|microtubule|spindle		ENSG00000143702	g.chr1:243332957A>G	28920			MODERATE		-0.205	neutral	getma.org/?cm=msa&ty=f&p=CE170_HUMAN&rb=491&re=690&var=F606L	NA	getma.org/?cm=var&var=hg19,1,243332957,A,G&fts=all	F606L	--	--	1																																		CEP170_uc001hzt.2_Missense_Mutation_p.F508L|CEP170_uc001hzu.2_Missense_Mutation_p.F508L	1,1	1		benign(0)	p.F606L	NM_014812	NP_055627		tolerated(0.14)	1,1	CE170_HUMAN	CEP170	HGNC	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		Q9NSN9_HUMAN,E5RJT5_HUMAN,E5RIH6_HUMAN,E5RFU8_HUMAN		12	2224	-	all_neural(11;0.101)	all_cancers(173;0.003)	UPI0000470238	606					SNV	CEP170,missense_variant,p.Phe606Leu,ENST00000366542,NM_014812.2;CEP170,missense_variant,p.Phe508Leu,ENST00000366544,NM_001042404.1;CEP170,missense_variant,p.Phe508Leu,ENST00000366543,NM_001042405.1;CEP170,missense_variant,p.Phe570Leu,ENST00000336415,;CEP170,missense_variant,p.Phe135Leu,ENST00000522895,;RP11-261C10.4,downstream_gene_variant,,ENST00000437499,;RP11-261C10.4,downstream_gene_variant,,ENST00000422938,;CEP170,non_coding_transcript_exon_variant,,ENST00000518289,;CEP170,upstream_gene_variant,,ENST00000451408,;CEP170,downstream_gene_variant,,ENST00000461671,;CEP170,downstream_gene_variant,,ENST00000521911,;	uc001hzs.2	c.1816T>C	1868/6828	4	4			c.1816T>C						1	SNP	c.(1816-1818)TTT>CTT	26	26			ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	Broad	centrosomal protein 170kDa isoform alpha			243332957		0.294	ENSG00000143702	3190	g.chr1:243332957A>G		centriole|microtubule|spindle								30.583897	KEEP	3	7	-1	15	8	3	7	-1	31.119438	15	8	0.346154	1	0	0	0	0	1	0	0	0	--	--		0	G			CEP170_uc001hzt.2_Missense_Mutation_p.F508L|CEP170_uc001hzu.2_Missense_Mutation_p.F508L	115	GBM-06-6701-TP	p.F606L	A	GGTGCAGAAAATTCCATTATC	NM_014812	NP_055627	243332957	Q5SW79	CE170_HUMAN	0	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		12	2224	-	G	G	all_neural(11;0.101)	all_cancers(173;0.003)	Missense_Mutation	606						
CEP170	0	broad.mit.edu	GRCh37	1	243362438	243362438	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-19-2624-01	TCGA-19-2624-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366542.1:c.555T>C	p.Asp185=	p.D185=	ENST00000366542	NM_014812.2	185	gaT/gaC	0			1			G	D	uc001hzs.2	protein_coding	YES	CCDS44339.1			555/4755									ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	c.(553-555)GAT>GAC			hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF17	centrosomal protein 170kDa isoform alpha				ENSP00000355500		20-Jul									COSM3400559,COSM3400558	20-Jul	.		ENST00000366542	Transcript				centriole|microtubule|spindle		ENSG00000143702	g.chr1:243362438A>G	28920			LOW								--	--	1																																		CEP170_uc001hzt.2_Silent_p.D185D|CEP170_uc001hzu.2_Silent_p.D185D	1,1	1			p.D185D	NM_014812	NP_055627			1,1	CE170_HUMAN	CEP170	HGNC	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		Q9NSN9_HUMAN,E5RJT5_HUMAN,E5RIH6_HUMAN,E5RFU8_HUMAN		7	963	-	all_neural(11;0.101)	all_cancers(173;0.003)	UPI0000470238	185					SNV	CEP170,synonymous_variant,p.=,ENST00000366542,NM_014812.2;CEP170,synonymous_variant,p.=,ENST00000366544,NM_001042404.1;CEP170,synonymous_variant,p.=,ENST00000366543,NM_001042405.1;CEP170,synonymous_variant,p.=,ENST00000336415,;CEP170,downstream_gene_variant,,ENST00000523424,;CEP170,downstream_gene_variant,,ENST00000522191,;	uc001hzs.2	c.555T>C	607/6828	3	3			c.555T>C						1	SNP	c.(553-555)GAT>GAC	61	61			ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	Broad	centrosomal protein 170kDa isoform alpha			243362438		0.428	ENSG00000143702	3190	g.chr1:243362438A>G		centriole|microtubule|spindle								0.598333	KEEP	2	1	-1	17	20	2	1	-1	6.687432	17	20	0.085714	1	0	0	0	0	0	0	1	0	--	--		0	G			CEP170_uc001hzt.2_Silent_p.D185D|CEP170_uc001hzu.2_Silent_p.D185D	164	GBM-19-2624-TP	p.D185D	A	CCACCTCATCATCCCCCCACC	NM_014812	NP_055627	243362438	Q5SW79	CE170_HUMAN	0	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		7	963	-	G	G	all_neural(11;0.101)	all_cancers(173;0.003)	Silent	185						
CEP170P1	645455		GRCh37	4	119444540	119444540	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000412784.2:n.113G>A		p.*38*	ENST00000412784				0																																																																																																																																																																																																																																												
CEP250	11190	broad.mit.edu	GRCh37	20	34084435	34084436	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	-			TCGA-06-0129-01	TCGA-06-0129-01	AG	AG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397527.1:c.3200_3201del	p.Arg1067ThrfsTer8	p.R1067Tfs*8	ENST00000397527	NM_007186.3	1066	cAG/c	0			1			-	Q/X	uc002xcm.2	protein_coding	YES	CCDS13255.1			3197-3198/7329									ovary(4)|central_nervous_system(1)	5	c.(3196-3198)CAGfs			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF1	centrosomal protein 2				ENSP00000380661		25/35									COSM2149508	25/35	.		ENST00000397527	Transcript			centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	ENSG00000126001	g.chr20:34084435_34084436delAG	1859	3		HIGH								--	--	1																																		CEP250_uc010zve.1_Frame_Shift_Del_p.Q434fs	1	1			p.Q1066fs	NM_007186	NP_009117			1	CP250_HUMAN	CEP250	HGNC	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		Q5JWS6_HUMAN,Q5JWS5_HUMAN,G1UI40_HUMAN		26	3868_3869	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		UPI000006FE8F	1066			Gln/Glu-rich.|Potential.		deletion	CEP250,frameshift_variant,p.Arg1067ThrfsTer8,ENST00000397527,NM_007186.3;CEP250,frameshift_variant,p.Arg1011ThrfsTer8,ENST00000342580,;CEP250,non_coding_transcript_exon_variant,,ENST00000487467,;CEP250,upstream_gene_variant,,ENST00000425525,;	uc002xcm.2	c.3197_3198delAG	3917-3918/8398	5	5			c.3197_3198delAG						20	DEL	c.(3196-3198)CAGfs	63	63			ovary(4)|central_nervous_system(1)	5	Broad	centrosomal protein 2			34084436		0.48	ENSG00000126001	3192	g.chr20:34084435_34084436delAG	centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding																				0.38	1	1	0	1	0	0	0	0	0	--	--		0	-			CEP250_uc010zve.1_Frame_Shift_Del_p.Q434fs	15	GBM-06-0129-TP	p.Q1066fs	AG	GAAAAGGAACAGAGACTCCTTG	NM_007186	NP_009117	34084435	Q9BV73	CP250_HUMAN	0	BRCA - Breast invasive adenocarcinoma(18;0.0106)		26	3868_3869	+	-	-	Lung NSC(9;0.00156)|all_lung(11;0.00243)		Frame_Shift_Del	1066			Gln/Glu-rich.|Potential.			
CEP250	0	broad.mit.edu	GRCh37	20	34092288	34092288	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-4931-01	TCGA-76-4931-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397527.1:c.6091C>G	p.Leu2031Val	p.L2031V	ENST00000397527	NM_007186.3	2031	Ctc/Gtc	0			1			G	L/V	uc002xcm.2	protein_coding	YES	CCDS13255.1			6091/7329									ovary(4)|central_nervous_system(1)	5	c.(6091-6093)CTC>GTC			hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF1	centrosomal protein 2				ENSP00000380661		30/35									COSM3405043	30/35	.		ENST00000397527	Transcript			centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	ENSG00000126001	g.chr20:34092288C>G	1859			MODERATE		1.545	low	getma.org/?cm=msa&ty=f&p=CP250_HUMAN&rb=1981&re=2039&var=L2031V	NA	getma.org/?cm=var&var=hg19,20,34092288,C,G&fts=all	L2031V	--	--	1																																		CEP250_uc010zve.1_Missense_Mutation_p.L1399V	1	1		benign(0.159)	p.L2031V	NM_007186	NP_009117			1	CP250_HUMAN	CEP250	HGNC	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		Q5JWS6_HUMAN,Q5JWS5_HUMAN,G1UI40_HUMAN		31	6762	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		UPI000006FE8F	2031			Gln/Glu-rich.|Potential.		SNV	CEP250,missense_variant,p.Leu2031Val,ENST00000397527,NM_007186.3;CEP250,missense_variant,p.Leu1975Val,ENST00000342580,;CEP250,missense_variant,p.Leu519Val,ENST00000422671,;CEP250,downstream_gene_variant,,ENST00000425525,;	uc002xcm.2	c.6091C>G	6811/8398	4	4			c.6091C>G						20	SNP	c.(6091-6093)CTC>GTC	20	20			ovary(4)|central_nervous_system(1)	5	Broad	centrosomal protein 2			34092288		0.597	ENSG00000126001	3192	g.chr20:34092288C>G	centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding							37.923064	KEEP	2	9	-1	6	6	2	9	-1	37.932557	6	6	0.478261	1	0	0	0	0	1	0	0	0	--	--		0	G			CEP250_uc010zve.1_Missense_Mutation_p.L1399V	270	GBM-76-4931-TP	p.L2031V	C	GGACCAGGATCTCCGATACCA	NM_007186	NP_009117	34092288	Q9BV73	CP250_HUMAN	0	BRCA - Breast invasive adenocarcinoma(18;0.0106)		31	6762	+	G	G	Lung NSC(9;0.00156)|all_lung(11;0.00243)		Missense_Mutation	2031			Gln/Glu-rich.|Potential.			
CEP290	0	broad.mit.edu	GRCh37	12	88505570	88505570	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-28-5216-01	TCGA-28-5216-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000552810.1:c.2118T>C	p.Asp706=	p.D706=	ENST00000552810	NM_025114.3	706	gaT/gaC	0			1			G	D	uc001tar.2	protein_coding	YES	CCDS55858.1			2118/7440									ovary(5)|breast(1)|pancreas(1)	7	c.(2116-2118)GAT>GAC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18879	centrosomal protein 290kDa				ENSP00000448012		21/54									COSM3399164	21/54	.		ENST00000552810	Transcript	1		cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	ENSG00000198707	g.chr12:88505570A>G	29021			LOW								--	--	1																																		CEP290_uc001tat.2_Silent_p.D499D|CEP290_uc009zsl.1_RNA	1	1			p.D706D	NM_025114	NP_079390			1	CE290_HUMAN	CEP290	HGNC	O15078	CE290_HUMAN					21	2462	-			UPI0000D60D15	706			Potential.		SNV	CEP290,synonymous_variant,p.=,ENST00000552810,NM_025114.3;CEP290,synonymous_variant,p.=,ENST00000309041,;CEP290,synonymous_variant,p.=,ENST00000604024,;CEP290,5_prime_UTR_variant,,ENST00000397838,;CEP290,3_prime_UTR_variant,,ENST00000547926,;	uc001tar.2	c.2118T>C	2462/7948	3	3			c.2118T>C						12	SNP	c.(2116-2118)GAT>GAC	2	2			ovary(5)|breast(1)|pancreas(1)	7	Broad	centrosomal protein 290kDa			88505570		0.368	ENSG00000198707	3193	g.chr12:88505570A>G	cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding							14.625157	KEEP	5	5	-1	27	44	5	5	-1	25.245593	27	44	0.12	1	0	0	0	0	0	0	1	0	--	--		0	G			CEP290_uc001tat.2_Silent_p.D499D|CEP290_uc009zsl.1_RNA	223	GBM-28-5216-TP	p.D706D	A	CGGTAAGCTGATCAACTTGGG	NM_025114	NP_079390	88505570	O15078	CE290_HUMAN	0			21	2462	-	G	G			Silent	706			Potential.			
CEP350	9857	broad.mit.edu	GRCh37	1	179991889	179991889	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-01	TCGA-06-0190-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367607.3:c.3292G>A	p.Ala1098Thr	p.A1098T	ENST00000367607	NM_014810.4	1098	Gca/Aca	0			1			A	A/T	uc001gnt.2	protein_coding	YES	CCDS1336.1			3292/9354									ovary(4)	4	c.(3292-3294)GCA>ACA			hmmpanther:PTHR13958	centrosome-associated protein 350				ENSP00000356579		13/38									COSM3400054,COSM3400055	13/38	.		ENST00000367607	Transcript				centrosome|nucleus|spindle		ENSG00000135837	g.chr1:179991889G>A	24238			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CE350_HUMAN&rb=601&re=1278&var=A1098T	NA	getma.org/?cm=var&var=hg19,1,179991889,G,A&fts=all	A1098T	--	--	1																																		CEP350_uc009wxl.2_Missense_Mutation_p.A1097T|CEP350_uc001gnu.2_Missense_Mutation_p.A932T	1,1	1		benign(0)	p.A1098T	NM_014810	NP_055625			1,1	CE350_HUMAN	CEP350	HGNC	Q5VT06	CE350_HUMAN			Q5T2X4_HUMAN		13	3675	+			UPI000013CFC5	1098					SNV	CEP350,missense_variant,p.Ala1098Thr,ENST00000367607,NM_014810.4;	uc001gnt.2	c.3292G>A	3710/13491	2	2			c.3292G>A						1	SNP	c.(3292-3294)GCA>ACA	45	45			ovary(4)	4	Broad	centrosome-associated protein 350			179991889		0.398	ENSG00000135837	3194	g.chr1:179991889G>A		centrosome|nucleus|spindle								-0.207349	KEEP	2	1	-1	15	25	2	1	-1	6.939968	15	25	0.076923	1	0	0	0	0	1	0	0	0	--	--		0	A			CEP350_uc009wxl.2_Missense_Mutation_p.A1097T|CEP350_uc001gnu.2_Missense_Mutation_p.A932T	43	GBM-06-0190-TP	p.A1098T	G	GAATGCCACCGCAACTCCTCT	NM_014810	NP_055625	179991889	Q5VT06	CE350_HUMAN	0			13	3675	+	A	A			Missense_Mutation	1098						
CEP350	9857	broad.mit.edu	GRCh37	1	179965731	179965731	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01	TCGA-06-0646-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367607.3:c.439G>A	p.Glu147Lys	p.E147K	ENST00000367607	NM_014810.4	147	Gaa/Aaa	0			1			A	E/K	uc001gnt.2	protein_coding	YES	CCDS1336.1			439/9354									ovary(4)	4	c.(439-441)GAA>AAA			hmmpanther:PTHR13958	centrosome-associated protein 350				ENSP00000356579		Jun-38									COSM3400048,COSM3400049	Jun-38	.		ENST00000367607	Transcript				centrosome|nucleus|spindle		ENSG00000135837	g.chr1:179965731G>A	24238			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=CE350_HUMAN&rb=1&re=200&var=E147K	NA	getma.org/?cm=var&var=hg19,1,179965731,G,A&fts=all	E147K	--	--	1																																		CEP350_uc001gnr.1_Missense_Mutation_p.E121K|CEP350_uc009wxl.2_Missense_Mutation_p.E146K|CEP350_uc001gnu.2_5'UTR	1,1	1		possibly_damaging(0.611)	p.E147K	NM_014810	NP_055625			1,1	CE350_HUMAN	CEP350	HGNC	Q5VT06	CE350_HUMAN			Q5T2X4_HUMAN		6	822	+			UPI000013CFC5	147					SNV	CEP350,missense_variant,p.Glu147Lys,ENST00000367607,NM_014810.4;CEP350,missense_variant,p.Glu121Lys,ENST00000491495,;CEP350,downstream_gene_variant,,ENST00000357434,;RP11-52I18.1,downstream_gene_variant,,ENST00000424289,;	uc001gnt.2	c.439G>A	857/13491	2	2			c.439G>A						1	SNP	c.(439-441)GAA>AAA	29	29			ovary(4)	4	Broad	centrosome-associated protein 350			179965731		0.343	ENSG00000135837	3194	g.chr1:179965731G>A		centrosome|nucleus|spindle								31.344326	KEEP	7	5	-1	6	10	7	5	-1	31.647676	6	10	0.384615	1	0	0	0	0	1	0	0	0	--	--		0	A			CEP350_uc001gnr.1_Missense_Mutation_p.E121K|CEP350_uc009wxl.2_Missense_Mutation_p.E146K|CEP350_uc001gnu.2_5'UTR	60	GBM-06-0646-TP	p.E147K	G	CAGCCATCTGGAATCAAAGCA	NM_014810	NP_055625	179965731	Q5VT06	CE350_HUMAN	0			6	822	+	A	A			Missense_Mutation	147						
CEP350	0	broad.mit.edu	GRCh37	1	180063502	180063505	+	frameshift_variant	Frame_Shift_Del	DEL	GACA	GACA	-			TCGA-27-2526-01	TCGA-27-2526-01	GACA	GACA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367607.3:c.8267_8270delACAG	p.Asp2756ValfsTer3	p.D2756Vfs*3	ENST00000367607	NM_014810.4	2754	ctGACA/ct	0			1			-	LT/X	uc001gnt.2	protein_coding	YES	CCDS1336.1			8262-8265/9354									ovary(4)	4	c.(8260-8265)CTGACAfs			hmmpanther:PTHR13958	centrosome-associated protein 350				ENSP00000356579		34/38										34/38	.		ENST00000367607	Transcript				centrosome|nucleus|spindle		ENSG00000135837	g.chr1:180063502_180063505delGACA	24238	5		HIGH								--	--	1																																		CEP350_uc009wxl.2_Frame_Shift_Del_p.L2753fs|CEP350_uc001gnv.2_Frame_Shift_Del_p.L889fs|CEP350_uc001gnw.1_Frame_Shift_Del_p.L511fs|CEP350_uc001gnx.1_Frame_Shift_Del_p.L511fs		1			p.L2754fs	NM_014810	NP_055625				CE350_HUMAN	CEP350	HGNC	Q5VT06	CE350_HUMAN			Q5T2X4_HUMAN		34	8645_8648	+			UPI000013CFC5	2754_2755					deletion	CEP350,frameshift_variant,p.Asp2756ValfsTer3,ENST00000367607,NM_014810.4;CEP350,frameshift_variant,p.Asp931ValfsTer3,ENST00000429851,;CEP350,frameshift_variant,p.Asp220ValfsTer3,ENST00000417046,;CEP350,non_coding_transcript_exon_variant,,ENST00000490141,;CEP350,upstream_gene_variant,,ENST00000496440,;CEP350,downstream_gene_variant,,ENST00000484356,;	uc001gnt.2	c.8262_8265delGACA	8680-8683/13491	5	5			c.8262_8265delGACA						1	DEL	c.(8260-8265)CTGACAfs	3	3			ovary(4)	4	Broad	centrosome-associated protein 350			180063505		0.358	ENSG00000135837	3194	g.chr1:180063502_180063505delGACA		centrosome|nucleus|spindle																					0.3	1	1	0	1	0	0	0	0	0	--	--		0	-			CEP350_uc009wxl.2_Frame_Shift_Del_p.L2753fs|CEP350_uc001gnv.2_Frame_Shift_Del_p.L889fs|CEP350_uc001gnw.1_Frame_Shift_Del_p.L511fs|CEP350_uc001gnx.1_Frame_Shift_Del_p.L511fs	203	GBM-27-2526-TP	p.L2754fs	GACA	TCAGCTTACTGACAGACAGTTTAC	NM_014810	NP_055625	180063502	Q5VT06	CE350_HUMAN	0			34	8645_8648	+	-	-			Frame_Shift_Del	2754_2755						
CEP350	0	broad.mit.edu	GRCh37	1	179972355	179972355	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-2571-01	TCGA-41-2571-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367607.3:c.1065G>A	p.Val355=	p.V355=	ENST00000367607	NM_014810.4	355	gtG/gtA	0			1			A	V	uc001gnt.2	protein_coding	YES	CCDS1336.1			1065/9354									ovary(4)	4	c.(1063-1065)GTG>GTA			hmmpanther:PTHR13958	centrosome-associated protein 350				ENSP00000356579		Jul-38									COSM3400050,COSM3400051	Jul-38	.		ENST00000367607	Transcript				centrosome|nucleus|spindle		ENSG00000135837	g.chr1:179972355G>A	24238			LOW								--	--	1																																		CEP350_uc009wxl.2_Silent_p.V354V|CEP350_uc001gnu.2_Silent_p.V189V	1,1	1			p.V355V	NM_014810	NP_055625			1,1	CE350_HUMAN	CEP350	HGNC	Q5VT06	CE350_HUMAN			Q5T2X4_HUMAN		7	1448	+			UPI000013CFC5	355					SNV	CEP350,synonymous_variant,p.=,ENST00000367607,NM_014810.4;RP11-52I18.1,upstream_gene_variant,,ENST00000424289,;	uc001gnt.2	c.1065G>A	1483/13491	1	1			c.1065G>A						1	SNP	c.(1063-1065)GTG>GTA	59	59			ovary(4)	4	Broad	centrosome-associated protein 350			179972355		0.373	ENSG00000135837	3194	g.chr1:179972355G>A		centrosome|nucleus|spindle								39.570824	KEEP	8	12	-1	18	6	8	12	-1	39.63853	18	6	0.448276	1	0	0	0	0	0	0	1	0	--	--		0	A			CEP350_uc009wxl.2_Silent_p.V354V|CEP350_uc001gnu.2_Silent_p.V189V	250	GBM-41-2571-TP	p.V355V	G	ATGGGAAAGTGTGGCAGGAGG	NM_014810	NP_055625	179972355	Q5VT06	CE350_HUMAN	0			7	1448	+	A	A			Silent	355						
CEP350	9857		GRCh37	1	180062525	180062525	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000367607.3:c.7285T>A	p.Phe2429Ile	p.F2429I	ENST00000367607	NM_014810.4	2429	Ttt/Att	0																																																																																																																																																																																																																																												
CEP41	95681	broad.mit.edu	GRCh37	7	130038800	130038800	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0650-01	TCGA-06-0650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000223208.5:c.1054G>A	p.Gly352Ser	p.G352S	ENST00000223208	NM_018718.2	352	Ggc/Agc	0			1			T	G/S	uc003vpz.2	protein_coding	YES	CCDS5821.1			1054/1122										0	c.(1054-1056)GGC>AGC			hmmpanther:PTHR13253,hmmpanther:PTHR13253:SF53	testis specific, 14				ENSP00000223208		11-Nov	3.29E-05	0.000193				3.00E-05			rs782590600,COSM3411587	11-Nov	.		ENST00000223208	Transcript	1		G2/M transition of mitotic cell cycle	centrosome|cytosol		ENSG00000106477	g.chr7:130038800C>T	12370			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=CEP41_HUMAN&rb=261&re=373&var=G352S	NA	getma.org/?cm=var&var=hg19,7,130038800,C,T&fts=all	G352S	--	--	1																																		TSGA14_uc003vpy.2_Missense_Mutation_p.G114S|TSGA14_uc010lmf.2_Missense_Mutation_p.G149S|TSGA14_uc003vqa.2_Missense_Mutation_p.G280S|TSGA14_uc011kpg.1_Missense_Mutation_p.G264S	0,1	1		benign(0.002)	p.G352S	NM_018718	NP_061188		tolerated_low_confidence(0.21)	0,1	CEP41_HUMAN	CEP41	HGNC	Q9BYV8	CEP41_HUMAN			C9JXA0_HUMAN,C9J9X8_HUMAN,C9J6R3_HUMAN,C9IZ34_HUMAN		11	1101	-	Melanoma(18;0.0435)		UPI000006D546	352					SNV	CEP41,missense_variant,p.Gly352Ser,ENST00000223208,NM_018718.2,NM_001257158.1;CEP41,missense_variant,p.Gly264Ser,ENST00000541543,NM_001257159.1;CEP41,missense_variant,p.Gly280Ser,ENST00000343969,;CEP41,downstream_gene_variant,,ENST00000472739,;CEP41,downstream_gene_variant,,ENST00000492389,;CEP41,downstream_gene_variant,,ENST00000475282,;CEP41,downstream_gene_variant,,ENST00000477003,;CEP41,3_prime_UTR_variant,,ENST00000484549,;CEP41,non_coding_transcript_exon_variant,,ENST00000603513,;CEP41,non_coding_transcript_exon_variant,,ENST00000485736,;CEP41,downstream_gene_variant,,ENST00000480206,;	uc003vpz.2	c.1054G>A	1325/6513	1	1			c.1054G>A						7	SNP	c.(1054-1056)GGC>AGC	4	4				0	Broad	testis specific, 14			130038800		0.562	ENSG00000106477	16370	g.chr7:130038800C>T	G2/M transition of mitotic cell cycle	centrosome|cytosol								19.529471	KEEP	11	26	-1	170	177	11	26	-1	74.749421	170	177	0.097059	1	0	0	0	0	1	0	0	0	--	--		0	T			TSGA14_uc003vpy.2_Missense_Mutation_p.G114S|TSGA14_uc010lmf.2_Missense_Mutation_p.G149S|TSGA14_uc003vqa.2_Missense_Mutation_p.G280S|TSGA14_uc011kpg.1_Missense_Mutation_p.G264S	63	GBM-06-0650-TP	p.G352S	C	CTGGCGGGGCCGCCACCTGGC	NM_018718	NP_061188	130038800	Q9BYV8	CEP41_HUMAN	0			11	1101	-	T	T	Melanoma(18;0.0435)		Missense_Mutation	352						
CEP57L1	0	broad.mit.edu	GRCh37	6	109480497	109480497	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-4210-01	TCGA-32-4210-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359793.3:c.848T>C	p.Ile283Thr	p.I283T	ENST00000359793	NM_173830.4	283	aTc/aCc	0			1			C	I/T	uc010kdk.2	protein_coding		CCDS5071.1			848/1383										0	c.(847-849)ATC>ACC			hmmpanther:PTHR19336,hmmpanther:PTHR19336:SF10	hypothetical protein LOC285753				ENSP00000352841		11-Sep									COSM3410526	11-Sep	.		ENST00000359793	Transcript				microtubule|microtubule organizing center		ENSG00000183137	g.chr6:109480497T>C	21561			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CE57L_HUMAN&rb=232&re=308&var=I283T	NA	getma.org/?cm=var&var=hg19,6,109480497,T,C&fts=all	I283T	--	--	1																																		C6orf182_uc003psx.3_Missense_Mutation_p.I283T|C6orf182_uc010kdl.2_Missense_Mutation_p.I283T|C6orf182_uc003psy.3_Missense_Mutation_p.I283T	1			benign(0)	p.I283T	NM_001083535	NP_001077004		tolerated(0.36)	1	CE57L_HUMAN	CEP57L1	HGNC	Q8IYX8	CE57L_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00123)|Epithelial(106;0.0022)|all cancers(137;0.00405)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)	E5RK85_HUMAN,E5RJP9_HUMAN,E5RJG4_HUMAN,E5RIK8_HUMAN,E5RI49_HUMAN,E5RHF8_HUMAN,E5RH23_HUMAN,E5RG82_HUMAN,E5RG21_HUMAN		11	1425	+		all_cancers(87;4.45e-07)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(75;3.25e-08)|all_epithelial(87;0.000254)|Colorectal(196;0.0293)|all_lung(197;0.11)	UPI00000741C4	283					SNV	CEP57L1,missense_variant,p.Ile283Thr,ENST00000407272,NM_001083535.1;CEP57L1,missense_variant,p.Ile283Thr,ENST00000517392,NM_001271852.1,NM_001271853.1;CEP57L1,missense_variant,p.Ile286Thr,ENST00000523787,;CEP57L1,missense_variant,p.Ile283Thr,ENST00000359793,NM_173830.4;CEP57L1,missense_variant,p.Ile300Thr,ENST00000368970,;CEP57L1,missense_variant,p.Ile283Thr,ENST00000368968,;CEP57L1,missense_variant,p.Ile162Thr,ENST00000522490,;CEP57L1,missense_variant,p.Ile64Thr,ENST00000523174,;CEP57L1,intron_variant,,ENST00000336977,;CEP57L1,intron_variant,,ENST00000521522,;CEP57L1,intron_variant,,ENST00000520883,;CEP57L1,downstream_gene_variant,,ENST00000521277,;CEP57L1,downstream_gene_variant,,ENST00000519286,;CEP57L1,downstream_gene_variant,,ENST00000519095,;CEP57L1,downstream_gene_variant,,ENST00000523209,;CEP57L1,downstream_gene_variant,,ENST00000524064,;CEP57L1,downstream_gene_variant,,ENST00000518853,;CEP57L1,downstream_gene_variant,,ENST00000519407,;CEP57L1,3_prime_UTR_variant,,ENST00000520610,;CEP57L1,non_coding_transcript_exon_variant,,ENST00000520761,;	uc010kdk.2	c.848T>C	1040/2515	3	3			c.848T>C						6	SNP	c.(847-849)ATC>ACC	56	56				0	Broad	hypothetical protein LOC285753			109480497		0.433	ENSG00000183137	2298	g.chr6:109480497T>C		microtubule|microtubule organizing center								160.851647	KEEP	28	26	-1	58	63	28	26	-1	165.709623	58	63	0.311688	1	0	0	0	0	1	0	0	0	--	--		0	C			C6orf182_uc003psx.3_Missense_Mutation_p.I283T|C6orf182_uc010kdl.2_Missense_Mutation_p.I283T|C6orf182_uc003psy.3_Missense_Mutation_p.I283T	245	GBM-32-4210-TP	p.I283T	T	GACCCACATATCCTTCAGAAA	NM_001083535	NP_001077004	109480497	Q8IYX8	CE57L_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.00123)|Epithelial(106;0.0022)|all cancers(137;0.00405)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)	11	1425	+	C	C		all_cancers(87;4.45e-07)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(75;3.25e-08)|all_epithelial(87;0.000254)|Colorectal(196;0.0293)|all_lung(197;0.11)	Missense_Mutation	283						
CEP57L1	0	broad.mit.edu	GRCh37	6	109481832	109481832	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-2571-01	TCGA-41-2571-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359793.3:c.1074C>T	p.Asp358=	p.D358=	ENST00000359793	NM_173830.4	358	gaC/gaT	0			1			T	D	uc010kdk.2	protein_coding		CCDS5071.1			1074/1383										0	c.(1072-1074)GAC>GAT			Low_complexity_(Seg):seg,hmmpanther:PTHR19336,hmmpanther:PTHR19336:SF10,Pfam_domain:PF06657	hypothetical protein LOC285753				ENSP00000352841		11-Oct	8.24E-05		8.70E-05			0.00012		6.06E-05	rs767040592,COSM3410527	11-Oct	.		ENST00000359793	Transcript				microtubule|microtubule organizing center		ENSG00000183137	g.chr6:109481832C>T	21561			LOW								--	--	1																																		C6orf182_uc003psx.3_Silent_p.D358D|C6orf182_uc010kdl.2_Silent_p.D358D|C6orf182_uc003psy.3_Silent_p.D358D	0,1				p.D358D	NM_001083535	NP_001077004			0,1	CE57L_HUMAN	CEP57L1	HGNC	Q8IYX8	CE57L_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00123)|Epithelial(106;0.0022)|all cancers(137;0.00405)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)	E5RK85_HUMAN,E5RJP9_HUMAN,E5RJG4_HUMAN,E5RIK8_HUMAN,E5RI49_HUMAN,E5RHF8_HUMAN,E5RH23_HUMAN,E5RG82_HUMAN,E5RG21_HUMAN		12	1651	+		all_cancers(87;4.45e-07)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(75;3.25e-08)|all_epithelial(87;0.000254)|Colorectal(196;0.0293)|all_lung(197;0.11)	UPI00000741C4	358			Potential.		SNV	CEP57L1,synonymous_variant,p.=,ENST00000407272,NM_001083535.1;CEP57L1,synonymous_variant,p.=,ENST00000517392,NM_001271852.1,NM_001271853.1;CEP57L1,synonymous_variant,p.=,ENST00000336977,;CEP57L1,synonymous_variant,p.=,ENST00000523787,;CEP57L1,synonymous_variant,p.=,ENST00000359793,NM_173830.4;CEP57L1,synonymous_variant,p.=,ENST00000521522,;CEP57L1,synonymous_variant,p.=,ENST00000520883,;CEP57L1,synonymous_variant,p.=,ENST00000368970,;CEP57L1,synonymous_variant,p.=,ENST00000368968,;CEP57L1,synonymous_variant,p.=,ENST00000523174,;CEP57L1,downstream_gene_variant,,ENST00000521277,;CEP57L1,downstream_gene_variant,,ENST00000519095,;CEP57L1,downstream_gene_variant,,ENST00000523209,;CEP57L1,downstream_gene_variant,,ENST00000522490,;CEP57L1,downstream_gene_variant,,ENST00000518853,;CEP57L1,3_prime_UTR_variant,,ENST00000520610,;CEP57L1,downstream_gene_variant,,ENST00000520761,;	uc010kdk.2	c.1074C>T	1266/2515	2	2			c.1074C>T						6	SNP	c.(1072-1074)GAC>GAT	44	44				0	Broad	hypothetical protein LOC285753			109481832		0.343	ENSG00000183137	2298	g.chr6:109481832C>T		microtubule|microtubule organizing center								185.463136	KEEP	38	23	-1	23	24	38	23	-1	185.882397	23	24	0.568627	1	0	0	0	0	0	0	1	0	--	--		0	T			C6orf182_uc003psx.3_Silent_p.D358D|C6orf182_uc010kdl.2_Silent_p.D358D|C6orf182_uc003psy.3_Silent_p.D358D	250	GBM-41-2571-TP	p.D358D	C	CAGTCTGTGACGACATAGAAT	NM_001083535	NP_001077004	109481832	Q8IYX8	CE57L_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.00123)|Epithelial(106;0.0022)|all cancers(137;0.00405)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)	12	1651	+	T	T		all_cancers(87;4.45e-07)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(75;3.25e-08)|all_epithelial(87;0.000254)|Colorectal(196;0.0293)|all_lung(197;0.11)	Silent	358			Potential.			
CEP63	80254	broad.mit.edu	GRCh37	3	134226076	134226076	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337090.3:c.170G>A	p.Arg57His	p.R57H	ENST00000337090		57	cGt/cAt	0	A:0.0002	A:0.0008	1	A:0		A	R/H	uc003eqo.1	protein_coding	YES	CCDS3086.1			170/2112									ovary(1)	1	c.(169-171)CGT>CAT			hmmpanther:PTHR18875,hmmpanther:PTHR18875:SF6	centrosomal protein 63 isoform a		A:0	A:0	ENSP00000336524	A:0	15-Mar	5.77E-05	0.000384		0.000231		1.50E-05			rs370940310,COSM3408252	15-Mar	.		ENST00000337090	Transcript	1	A:0.0002	cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	ENSG00000182923	g.chr3:134226076G>A	25815			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=CEP63_HUMAN&rb=1&re=701&var=R57H	NA	getma.org/?cm=var&var=hg19,3,134226076,G,A&fts=all	R57H	--	--	1																																		CEP63_uc003eql.1_Missense_Mutation_p.R57H|CEP63_uc003eqm.2_Missense_Mutation_p.R57H|CEP63_uc003eqn.1_Missense_Mutation_p.R57H	0,1	1		probably_damaging(0.997)	p.R57H	NM_025180	NP_079456	A:0	deleterious(0)	0,1	CEP63_HUMAN	CEP63	HGNC	Q96MT8	CEP63_HUMAN			D6RAY6_HUMAN,D6R9Q4_HUMAN		4	619	+			UPI000006D2FD	57			Potential.		SNV	CEP63,missense_variant,p.Arg57His,ENST00000337090,;CEP63,missense_variant,p.Arg57His,ENST00000513612,NM_025180.3;CEP63,missense_variant,p.Arg57His,ENST00000606977,;CEP63,missense_variant,p.Arg57His,ENST00000332047,NM_001042383.1;CEP63,missense_variant,p.Arg57His,ENST00000383229,NM_001042400.1;CEP63,missense_variant,p.Arg57His,ENST00000354446,NM_001042384.1;CEP63,missense_variant,p.Arg57His,ENST00000511574,;CEP63,missense_variant,p.Arg57His,ENST00000512894,;CEP63,non_coding_transcript_exon_variant,,ENST00000504013,;RP11-445J14.1,downstream_gene_variant,,ENST00000509658,;	uc003eqo.1	c.170G>A	343/5778	2	2			c.170G>A						3	SNP	c.(169-171)CGT>CAT	27	27			ovary(1)	1	Broad	centrosomal protein 63 isoform a			134226076		0.368	ENSG00000182923	3197	g.chr3:134226076G>A	cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding							41.699508	KEEP	14	12	-1	36	52	14	12	-1	50.039128	36	52	0.195876	1	0	0	0	0	1	0	0	0	--	--		0	A			CEP63_uc003eql.1_Missense_Mutation_p.R57H|CEP63_uc003eqm.2_Missense_Mutation_p.R57H|CEP63_uc003eqn.1_Missense_Mutation_p.R57H	102	GBM-06-5858-TP	p.R57H	G	TTGAAAATCCGTGAACAGGAA	NM_025180	NP_079456	134226076	Q96MT8	CEP63_HUMAN	0			4	619	+	A	A			Missense_Mutation	57			Potential.			
CEP63	0	broad.mit.edu	GRCh37	3	134225989	134225989	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-4935-01	TCGA-76-4935-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337090.3:c.83T>C	p.Leu28Pro	p.L28P	ENST00000337090		28	cTc/cCc	0			1			C	L/P	uc003eqo.1	protein_coding	YES	CCDS3086.1			83/2112									ovary(1)	1	c.(82-84)CTC>CCC			hmmpanther:PTHR18875,hmmpanther:PTHR18875:SF6	centrosomal protein 63 isoform a				ENSP00000336524		15-Mar									COSM3408251	15-Mar	.		ENST00000337090	Transcript	1		cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	ENSG00000182923	g.chr3:134225989T>C	25815			MODERATE		2.31	medium	getma.org/?cm=msa&ty=f&p=CEP63_HUMAN&rb=1&re=701&var=L28P	NA	getma.org/?cm=var&var=hg19,3,134225989,T,C&fts=all	L28P	--	--	1																																		CEP63_uc003eql.1_Missense_Mutation_p.L28P|CEP63_uc003eqm.2_Missense_Mutation_p.L28P|CEP63_uc003eqn.1_Missense_Mutation_p.L28P	1	1		probably_damaging(1)	p.L28P	NM_025180	NP_079456		deleterious(0)	1	CEP63_HUMAN	CEP63	HGNC	Q96MT8	CEP63_HUMAN			D6RAY6_HUMAN,D6R9Q4_HUMAN		4	532	+			UPI000006D2FD	28			Potential.		SNV	CEP63,missense_variant,p.Leu28Pro,ENST00000337090,;CEP63,missense_variant,p.Leu28Pro,ENST00000513612,NM_025180.3;CEP63,missense_variant,p.Leu28Pro,ENST00000606977,;CEP63,missense_variant,p.Leu28Pro,ENST00000332047,NM_001042383.1;CEP63,missense_variant,p.Leu28Pro,ENST00000383229,NM_001042400.1;CEP63,missense_variant,p.Leu28Pro,ENST00000354446,NM_001042384.1;CEP63,missense_variant,p.Leu28Pro,ENST00000511574,;CEP63,missense_variant,p.Leu28Pro,ENST00000512894,;CEP63,non_coding_transcript_exon_variant,,ENST00000504013,;RP11-445J14.1,downstream_gene_variant,,ENST00000509658,;	uc003eqo.1	c.83T>C	256/5778	4	4			c.83T>C						3	SNP	c.(82-84)CTC>CCC	45	45			ovary(1)	1	Broad	centrosomal protein 63 isoform a			134225989		0.363	ENSG00000182923	3197	g.chr3:134225989T>C	cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding							-32.714048	KEEP	1	3	-1	87	86	1	3	-1	6.630527	87	86	0.019737	1	0	0	0	0	1	0	0	0	--	--		0	C			CEP63_uc003eql.1_Missense_Mutation_p.L28P|CEP63_uc003eqm.2_Missense_Mutation_p.L28P|CEP63_uc003eqn.1_Missense_Mutation_p.L28P	273	GBM-76-4935-TP	p.L28P	T	CTACAGGAGCTCATGAAACAG	NM_025180	NP_079456	134225989	Q96MT8	CEP63_HUMAN	0			4	532	+	C	C			Missense_Mutation	28			Potential.			
CEP68	23177	broad.mit.edu	GRCh37	2	65309696	65309696	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01	TCGA-06-0195-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377990.2:c.2131G>A	p.Ala711Thr	p.A711T	ENST00000377990	NM_015147.2	711	Gca/Aca	0			1			A	A/T	uc002sdl.3	protein_coding	YES	CCDS1880.2			2131/2274									skin(1)	1	c.(2131-2133)GCA>ACA			Gene3D:1.20.58.60,hmmpanther:PTHR14514,Superfamily_domains:SSF46966	centrosomal protein 68kDa				ENSP00000367229		7-Jun									COSM3407933	7-Jun	.		ENST00000377990	Transcript			centrosome organization	centrosome		ENSG00000011523	g.chr2:65309696G>A	29076			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=CEP68_HUMAN&rb=661&re=757&var=A711T	NA	getma.org/?cm=var&var=hg19,2,65309696,G,A&fts=all	A711T	--	--	1																																		CEP68_uc010yqb.1_3'UTR|CEP68_uc002sdk.3_Missense_Mutation_p.A574T|CEP68_uc010yqc.1_Missense_Mutation_p.A711T	1	1		possibly_damaging(0.814)	p.A711T	NM_015147	NP_055962		deleterious(0.03)	1	CEP68_HUMAN	CEP68	HGNC	Q76N32	CEP68_HUMAN			Q53RN6_HUMAN		6	2345	+			UPI0000505465	711					SNV	CEP68,missense_variant,p.Ala711Thr,ENST00000377990,NM_015147.2;CEP68,missense_variant,p.Ala574Thr,ENST00000260569,;CEP68,3_prime_UTR_variant,,ENST00000546106,;RAB1A,downstream_gene_variant,,ENST00000409784,NM_004161.4;RAB1A,downstream_gene_variant,,ENST00000409892,;RAB1A,intron_variant,,ENST00000494188,;	uc002sdl.3	c.2131G>A	2334/5847	2	2			c.2131G>A						2	SNP	c.(2131-2133)GCA>ACA	27	27			skin(1)	1	Broad	centrosomal protein 68kDa			65309696		0.463	ENSG00000011523	3198	g.chr2:65309696G>A	centrosome organization	centrosome								-33.161866	KEEP	2	3	-1	88	93	2	3	-1	6.798592	88	93	0.030303	1	0	0	0	0	1	0	0	0	--	--		0	A			CEP68_uc010yqb.1_3'UTR|CEP68_uc002sdk.3_Missense_Mutation_p.A574T|CEP68_uc010yqc.1_Missense_Mutation_p.A711T	45	GBM-06-0195-TP	p.A711T	G	TGGGAGGATCGCAAAGCAGTC	NM_015147	NP_055962	65309696	Q76N32	CEP68_HUMAN	0			6	2345	+	A	A			Missense_Mutation	711						
CEP70	80321	broad.mit.edu	GRCh37	3	138289888	138289888	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0216-01	TCGA-06-0216-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264982.3:c.272A>G	p.Asn91Ser	p.N91S	ENST00000264982	NM_024491.2	91	aAt/aGt	0			1			C	N/S	uc003esl.2	protein_coding	YES	CCDS3102.1			272/1794									skin(1)	1	c.(271-273)AAT>AGT			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14594:SF1,hmmpanther:PTHR14594	centrosomal protein 70 kDa				ENSP00000264982		18-May									COSM2150897	18-May	.		ENST00000264982	Transcript			G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	ENSG00000114107	g.chr3:138289888T>C	29972			MODERATE		2.005	medium	getma.org/?cm=msa&ty=f&p=CEP70_HUMAN&rb=90&re=178&var=N91S	NA	getma.org/?cm=var&var=hg19,3,138289888,T,C&fts=all	N91S	--	--	1																																		CEP70_uc011bmk.1_Missense_Mutation_p.N71S|CEP70_uc011bml.1_Missense_Mutation_p.N73S|CEP70_uc011bmm.1_Intron|CEP70_uc003esm.2_Missense_Mutation_p.N91S|CEP70_uc003esn.2_Missense_Mutation_p.N91S	1	1		probably_damaging(0.998)	p.N91S	NM_024491	NP_077817		deleterious(0.01)	1	CEP70_HUMAN	CEP70	HGNC	Q8NHQ1	CEP70_HUMAN			C9JZ04_HUMAN,C9J0F4_HUMAN		5	470	-			UPI000013D5A3	91			Potential.		SNV	CEP70,missense_variant,p.Asn91Ser,ENST00000264982,NM_024491.2;CEP70,missense_variant,p.Asn71Ser,ENST00000542237,;CEP70,missense_variant,p.Asn91Ser,ENST00000481834,;CEP70,missense_variant,p.Asn73Ser,ENST00000474781,;CEP70,missense_variant,p.Asn91Ser,ENST00000484888,;CEP70,missense_variant,p.Asn91Ser,ENST00000464035,;CEP70,missense_variant,p.Asn71Ser,ENST00000462419,;CEP70,missense_variant,p.Asn70Ser,ENST00000468900,;CEP70,missense_variant,p.Asn91Ser,ENST00000470159,;CEP70,intron_variant,,ENST00000489254,;CEP70,downstream_gene_variant,,ENST00000485115,;CEP70,non_coding_transcript_exon_variant,,ENST00000478673,;	uc003esl.2	c.272A>G	539/2732	3	3			c.272A>G						3	SNP	c.(271-273)AAT>AGT	64	64			skin(1)	1	Broad	centrosomal protein 70 kDa			138289888		0.318	ENSG00000114107	3199	g.chr3:138289888T>C	G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding							68.968491	KEEP	12	13	-1	27	9	12	13	-1	69.247337	27	9	0.42	1	0	0	0	0	1	0	0	0	--	--		0	C			CEP70_uc011bmk.1_Missense_Mutation_p.N71S|CEP70_uc011bml.1_Missense_Mutation_p.N73S|CEP70_uc011bmm.1_Intron|CEP70_uc003esm.2_Missense_Mutation_p.N91S|CEP70_uc003esn.2_Missense_Mutation_p.N91S	51	GBM-06-0216-TP	p.N91S	T	AAGCTGTTGATTAGTTTCTAT	NM_024491	NP_077817	138289888	Q8NHQ1	CEP70_HUMAN	0			5	470	-	C	C			Missense_Mutation	91			Potential.			
CEP72	0	broad.mit.edu	GRCh37	5	637858	637858	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-1395-01	TCGA-14-1395-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264935.5:c.1131C>T	p.Asn377=	p.N377=	ENST00000264935	NM_018140.3	377	aaC/aaT	0			1			T	N	uc003jbf.2	protein_coding	YES	CCDS34126.1			1131/1944									ovary(1)	1	c.(1129-1131)AAC>AAT			hmmpanther:PTHR23311,hmmpanther:PTHR23311:SF0	centrosomal protein 72 kDa				ENSP00000264935		12-Jul	8.24E-06			0.000143					rs763789184,COSM3410340	12-Jul	.		ENST00000264935	Transcript			G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		ENSG00000112877	g.chr5:637858C>T	25547			LOW								--	--	1																																		CEP72_uc011clz.1_RNA	0,1	1			p.N377N	NM_018140	NP_060610			0,1	CEP72_HUMAN	CEP72	HGNC	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)				7	1203	+			UPI0000072FB8	377					SNV	CEP72,synonymous_variant,p.=,ENST00000264935,NM_018140.3;CEP72,3_prime_UTR_variant,,ENST00000444221,;	uc003jbf.2	c.1131C>T	1221/2434	2	2			c.1131C>T						5	SNP	c.(1129-1131)AAC>AAT	47	47			ovary(1)	1	Broad	centrosomal protein 72 kDa			637858		0.622	ENSG00000112877	3200	g.chr5:637858C>T	G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol								35.797873	KEEP	3	11	-1	5	9	3	11	-1	35.831272	5	9	0.461538	1	0	0	0	0	0	0	1	0	--	--		0	T			CEP72_uc011clz.1_RNA	144	GBM-14-1395-TP	p.N377N	C	AAAGCAGGAACGGGAGGACCT	NM_018140	NP_060610	637858	Q9P209	CEP72_HUMAN	0	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		7	1203	+	T	T			Silent	377						
CEP76	0	broad.mit.edu	GRCh37	18	12699056	12699056	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262127.2:c.442C>T	p.Arg148Cys	p.R148C	ENST00000262127	NM_024899.3	148	Cgt/Tgt	0			1			A	R/C	uc002kri.2	protein_coding	YES	CCDS11861.1			442/1980										0	c.(442-444)CGT>TGT			Pfam_domain:PF15627,hmmpanther:PTHR20837,hmmpanther:PTHR20837:SF5	centrosomal protein 76kDa				ENSP00000262127		12-Apr	3.29E-05		0.000259					6.06E-05	rs754183790,COSM3403437	12-Apr	.		ENST00000262127	Transcript			G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding	ENSG00000101624	g.chr18:12699056G>A	25727			MODERATE		1.825	low	getma.org/?cm=msa&ty=f&p=CEP76_HUMAN&rb=1&re=657&var=R148C	NA	getma.org/?cm=var&var=hg19,18,12699056,G,A&fts=all	R148C	--	--	1																																		PSMG2_uc002krg.2_Intron|CEP76_uc002krh.3_5'UTR|CEP76_uc010wzz.1_Intron|CEP76_uc010xaa.1_5'UTR|CEP76_uc010xab.1_3'UTR	0,1	1		benign(0.067)	p.R148C	NM_024899	NP_079175		deleterious(0.01)	0,1	CEP76_HUMAN	CEP76	HGNC	Q8TAP6	CEP76_HUMAN					4	598	-			UPI00000715E7	148					SNV	CEP76,missense_variant,p.Arg148Cys,ENST00000262127,NM_024899.3;CEP76,missense_variant,p.Arg23Cys,ENST00000585751,;CEP76,intron_variant,,ENST00000423709,NM_001271989.1;PSMG2,intron_variant,,ENST00000585331,NM_147163.1;PSMG2,intron_variant,,ENST00000586445,;PSMG2,upstream_gene_variant,,ENST00000317615,NM_020232.4;PSMG2,upstream_gene_variant,,ENST00000590217,;CEP76,upstream_gene_variant,,ENST00000587666,;CEP76,upstream_gene_variant,,ENST00000591034,;CEP76,non_coding_transcript_exon_variant,,ENST00000586887,;CEP76,non_coding_transcript_exon_variant,,ENST00000592660,;CEP76,non_coding_transcript_exon_variant,,ENST00000589875,;CEP76,3_prime_UTR_variant,,ENST00000593250,;CEP76,3_prime_UTR_variant,,ENST00000590143,;CEP76,3_prime_UTR_variant,,ENST00000587929,;PSMG2,upstream_gene_variant,,ENST00000586587,;	uc002kri.2	c.442C>T	668/2939	2	2			c.442C>T						18	SNP	c.(442-444)CGT>TGT	44	44				0	Broad	centrosomal protein 76kDa			12699056		0.373	ENSG00000101624	3201	g.chr18:12699056G>A	G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding							147.286315	KEEP	26	34	-1	59	60	26	34	-1	150.388965	59	60	0.353659	1	0	0	0	0	1	0	0	0	--	--		0	A			PSMG2_uc002krg.2_Intron|CEP76_uc002krh.3_5'UTR|CEP76_uc010wzz.1_Intron|CEP76_uc010xaa.1_5'UTR|CEP76_uc010xab.1_3'UTR	131	GBM-12-5301-TP	p.R148C	G	GGTTTAGAACGAAAACGTTGG	NM_024899	NP_079175	12699056	Q8TAP6	CEP76_HUMAN	0			4	598	-	A	A			Missense_Mutation	148						
CEP95	90799		GRCh37	17	62532771	62532771	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000556440.2:c.2122C>T	p.Arg708Ter	p.R708*	ENST00000556440	NM_138363.1	708	Cga/Tga	0																																																																																																																																																																																																																																												
CEP97	0	broad.mit.edu	GRCh37	3	101451368	101451368	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-76-4928-01	TCGA-76-4928-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341893.3:c.598T>G	p.Leu200Val	p.L200V	ENST00000341893		200	Ttg/Gtg	0			1			G	L/V	uc003dvk.1	protein_coding	YES	CCDS2944.1			598/2598									ovary(2)	2	c.(598-600)TTG>GTG			Gene3D:3.80.10.10,Pfam_domain:PF14580,hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF232,Superfamily_domains:SSF52058	centrosomal protein 97kDa				ENSP00000342510		11-Jun									COSM3408079,COSM3408080	11-Jun	.		ENST00000341893	Transcript				centrosome|nucleus	protein binding	ENSG00000182504	g.chr3:101451368T>G	26244			MODERATE		2.455	medium	getma.org/?cm=msa&ty=f&p=CEP97_HUMAN&rb=167&re=310&var=L200V	getma.org/pdb.php?prot=CEP97_HUMAN&from=167&to=310&var=L200V	getma.org/?cm=var&var=hg19,3,101451368,T,G&fts=all	L200V	--	--	1																																		CEP97_uc010hpm.1_Missense_Mutation_p.L166V|CEP97_uc011bhf.1_Missense_Mutation_p.L200V|CEP97_uc003dvl.1_5'UTR|CEP97_uc003dvm.1_Missense_Mutation_p.L38V	1,1	1		probably_damaging(0.988)	p.L200V	NM_024548	NP_078824		deleterious(0)	1,1	CEP97_HUMAN	CEP97	HGNC	Q8IW35	CEP97_HUMAN					6	625	+			UPI0000074569	200			LRR 8.		SNV	CEP97,missense_variant,p.Leu200Val,ENST00000341893,;CEP97,missense_variant,p.Leu200Val,ENST00000327230,;CEP97,missense_variant,p.Leu200Val,ENST00000494050,NM_024548.2;CEP97,upstream_gene_variant,,ENST00000462076,;CEP97,missense_variant,p.Leu75Val,ENST00000467655,;CEP97,3_prime_UTR_variant,,ENST00000465011,;CEP97,non_coding_transcript_exon_variant,,ENST00000489172,;	uc003dvk.1	c.598T>G	1350/8361	3	3			c.598T>G						3	SNP	c.(598-600)TTG>GTG	57	57			ovary(2)	2	Broad	centrosomal protein 97kDa			101451368		0.418	ENSG00000182504	3203	g.chr3:101451368T>G		centrosome|nucleus	protein binding							78.960905	KEEP	14	18	-1	52	69	14	18	-1	88.846401	52	69	0.210937	1	0	0	0	0	1	0	0	0	--	--		0	G			CEP97_uc010hpm.1_Missense_Mutation_p.L166V|CEP97_uc011bhf.1_Missense_Mutation_p.L200V|CEP97_uc003dvl.1_5'UTR|CEP97_uc003dvm.1_Missense_Mutation_p.L38V	268	GBM-76-4928-TP	p.L200V	T	ATTGGAACAGTTGTCGATTAT	NM_024548	NP_078824	101451368	Q8IW35	CEP97_HUMAN	0			6	625	+	G	G			Missense_Mutation	200			LRR 8.			
CEP97	79598		GRCh37	3	101476715	101476715	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000341893.3:c.1265G>T	p.Arg422Met	p.R422M	ENST00000341893		422	aGg/aTg	0																																																																																																																																																																																																																																												
CERS3	204219		GRCh37	15	100996164	100996164	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000284382.4:c.933G>T	p.Leu311Phe	p.L311F	ENST00000284382	NM_178842.3	311	ttG/ttT	0																																																																																																																																																																																																																																												
CERS4	0	broad.mit.edu	GRCh37	19	8316117	8316117	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251363.5:c.157C>T	p.Arg53Cys	p.R53C	ENST00000251363	NM_024552.2	53	Cgc/Tgc	0			1			T	R/C	uc002mjg.2	protein_coding	YES	CCDS12197.1			157/1185									ovary(1)	1	c.(157-159)CGC>TGC			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR12560:SF6,hmmpanther:PTHR12560,PIRSF_domain:PIRSF005225	LAG1 homolog, ceramide synthase 4				ENSP00000251363		12-Mar	4.12E-05			0.000116		6.11E-05			rs781132558,COSM440678	12-Mar	.		ENST00000251363	Transcript				endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	ENSG00000090661	g.chr19:8316117C>T	23747			MODERATE		3.395	medium	getma.org/?cm=msa&ty=f&p=CERS4_HUMAN&rb=1&re=200&var=R53C	NA	getma.org/?cm=var&var=hg19,19,8316117,C,T&fts=all	R53C	--	--	1																																		LASS4_uc002mjh.2_Missense_Mutation_p.R2C|LASS4_uc002mji.2_Intron|LASS4_uc010dvz.2_Missense_Mutation_p.R53C	0,1	1		probably_damaging(1)	p.R53C	NM_024552	NP_078828		deleterious(0)	0,1	CERS4_HUMAN	CERS4	HGNC	Q9HA82	CERS4_HUMAN			H0YNR6_HUMAN,H0YMY6_HUMAN,H0YLY3_HUMAN,H0YKS3_HUMAN,H0YKR4_HUMAN,H0YKC9_HUMAN		3	477	+			UPI000013CCFB	53					SNV	CERS4,missense_variant,p.Arg2Cys,ENST00000558331,;CERS4,missense_variant,p.Arg53Cys,ENST00000251363,NM_024552.2;CERS4,missense_variant,p.Arg53Cys,ENST00000559336,;CERS4,missense_variant,p.Arg53Cys,ENST00000559450,;CERS4,missense_variant,p.Arg53Cys,ENST00000561053,;CERS4,missense_variant,p.Arg53Cys,ENST00000558877,;CERS4,missense_variant,p.Arg53Cys,ENST00000558268,;CERS4,missense_variant,p.Arg53Cys,ENST00000561008,;CERS4,downstream_gene_variant,,ENST00000560412,;CERS4,intron_variant,,ENST00000595722,;CERS4,non_coding_transcript_exon_variant,,ENST00000557925,;CERS4,intron_variant,,ENST00000558501,;	uc002mjg.2	c.157C>T	457/1769	1	1			c.157C>T						19	SNP	c.(157-159)CGC>TGC	4	4			ovary(1)	1	Broad	LAG1 homolog, ceramide synthase 4			8316117		0.627	ENSG00000090661	8483	g.chr19:8316117C>T		endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity							-48.169461	KEEP	2	2	-1	115	114	2	2	-1	6.426857	115	114	0.019048	1	0	0	0	0	1	0	0	0	--	--		0	T			LASS4_uc002mjh.2_Missense_Mutation_p.R2C|LASS4_uc002mji.2_Intron|LASS4_uc010dvz.2_Missense_Mutation_p.R53C	159	GBM-19-1390-TP	p.R53C	C	CCTGGCCATGCGCCTTGCCTT	NM_024552	NP_078828	8316117	Q9HA82	CERS4_HUMAN	0			3	477	+	T	T			Missense_Mutation	53						
CES1	1066	broad.mit.edu	GRCh37	16	55853460	55853460	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01	TCGA-06-0155-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360526.3:c.893C>T	p.Thr298Met	p.T298M	ENST00000360526	NM_001266.4	298	aCg/aTg	0			1			A	T/M	uc002eim.2	protein_coding		CCDS45488.1			890/1704										0	c.(889-891)ACG>ATG			Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF179,Low_complexity_(Seg):seg,Superfamily_domains:SSF53474	carboxylesterase 1 isoform b precursor	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)			ENSP00000355193		14-Jul	2.47E-05	9.62E-05				3.00E-05			rs767343447,COSM1378418	14-Jul	.		ENST00000361503	Transcript	1		response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	ENSG00000198848	g.chr16:55853460G>A	1863			MODERATE		1.8	low	getma.org/?cm=msa&ty=f&p=EST1_HUMAN&rb=1&re=547&var=T297M	getma.org/pdb.php?prot=EST1_HUMAN&from=1&to=547&var=T297M	getma.org/?cm=var&var=hg19,16,55853460,G,A&fts=all	T297M	--	--	1																																		CES1_uc010ccf.2_5'Flank|CES1_uc002eil.2_Missense_Mutation_p.T298M|CES1_uc002ein.2_Missense_Mutation_p.T297M	0,1			possibly_damaging(0.859)	p.T297M	NM_001025194	NP_001020365		tolerated(0.06)	0,1	EST1_HUMAN	CES1	HGNC	P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	B7Z795_HUMAN		7	998	-			UPI000004A443	297					SNV	CES1,missense_variant,p.Thr297Met,ENST00000422046,;CES1,missense_variant,p.Thr298Met,ENST00000360526,NM_001266.4,NM_001025195.1,NM_001025194.1;CES1,missense_variant,p.Thr297Met,ENST00000361503,;CES1,downstream_gene_variant,,ENST00000566555,;CES1,missense_variant,p.Thr12Met,ENST00000569260,;CES1,downstream_gene_variant,,ENST00000563005,;CES1,downstream_gene_variant,,ENST00000565403,;	uc002eim.2	c.890C>T	1021/1835	2	2			c.890C>T						16	SNP	c.(889-891)ACG>ATG	27	27				0	Broad	carboxylesterase 1 isoform b precursor		Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	55853460		0.507	ENSG00000198848	3209	g.chr16:55853460G>A	response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	NSCLC(162;1801 2756 42904 52896)			NSCLC(162;1801 2756 42904 52896)			-40.764786	KEEP	4	6	-1	142	148	4	6	-1	20.210806	142	148	0.037879	1	0	0	0	0	1	0	0	0	--	--		0	A			CES1_uc010ccf.2_5'Flank|CES1_uc002eil.2_Missense_Mutation_p.T298M|CES1_uc002ein.2_Missense_Mutation_p.T297M	27	GBM-06-0155-TP	p.T297M	G	TTTCAATGTCGTCTCCAAGAG	NM_001025194	NP_001020365	55853460	P23141	EST1_HUMAN	0		all cancers(182;0.13)|Epithelial(162;0.137)	7	998	-	A	A			Missense_Mutation	297						
CES1	1066	broad.mit.edu	GRCh37	16	55855414	55855414	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360526.3:c.559C>T	p.Arg187Trp	p.R187W	ENST00000360526	NM_001266.4	187	Cgg/Tgg	0		T:0	1	T:0		A	R/W	uc002eim.2	protein_coding		CCDS45488.1			556/1704										0	c.(556-558)CGG>TGG			Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF179,Superfamily_domains:SSF53474	carboxylesterase 1 isoform b precursor	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	T:0.001		ENSP00000355193	T:0	14-May	8.24E-06								rs200227274,COSM3402370	14-May	.		ENST00000361503	Transcript	1	T:0.0002	response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	ENSG00000198848	g.chr16:55855414G>A	1863			MODERATE		2.55	medium	getma.org/?cm=msa&ty=f&p=EST1_HUMAN&rb=1&re=547&var=R186W	getma.org/pdb.php?prot=EST1_HUMAN&from=1&to=547&var=R186W	getma.org/?cm=var&var=hg19,16,55855414,G,A&fts=all	R186W	--	--	1																																		CES1_uc002eil.2_Missense_Mutation_p.R187W|CES1_uc002ein.2_Missense_Mutation_p.R186W	0,1			probably_damaging(0.992)	p.R186W	NM_001025194	NP_001020365	T:0	deleterious(0.02)	0,1	EST1_HUMAN	CES1	HGNC	P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	B7Z795_HUMAN		5	664	-			UPI000004A443	186	R -> G (in Ref. 18; CAA37147).				SNV	CES1,missense_variant,p.Arg186Trp,ENST00000422046,;CES1,missense_variant,p.Arg187Trp,ENST00000360526,NM_001266.4,NM_001025195.1,NM_001025194.1;CES1,missense_variant,p.Arg186Trp,ENST00000361503,;CES1,non_coding_transcript_exon_variant,,ENST00000566555,;CES1,non_coding_transcript_exon_variant,,ENST00000563005,;CES1,non_coding_transcript_exon_variant,,ENST00000565403,;CES1,upstream_gene_variant,,ENST00000569260,;	uc002eim.2	c.556C>T	687/1835	1	1			c.556C>T						16	SNP	c.(556-558)CGG>TGG	64	64				0	Broad	carboxylesterase 1 isoform b precursor		Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	55855414		0.602	ENSG00000198848	3209	g.chr16:55855414G>A	response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	NSCLC(162;1801 2756 42904 52896)			NSCLC(162;1801 2756 42904 52896)			30.804746	KEEP	6	8	-1	46	25	6	8	-1	37.28704	46	25	0.191781	1	0	0	0	0	1	0	0	0	--	--		0	A			CES1_uc002eil.2_Missense_Mutation_p.R187W|CES1_uc002ein.2_Missense_Mutation_p.R186W	39	GBM-06-0184-TP	p.R186W	G	CAGTTCCCCCGGCTGTGTTCA	NM_001025194	NP_001020365	55855414	P23141	EST1_HUMAN	0		all cancers(182;0.13)|Epithelial(162;0.137)	5	664	-	A	A			Missense_Mutation	186	R -> G (in Ref. 18; CAA37147).					
CES4A	283848	broad.mit.edu	GRCh37	16	67040719	67040719	+	intron_variant	Intron	SNP	G	G	A			TCGA-06-0155-01	TCGA-06-0155-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000540947.2:c.1315+1423G>A		p.*439*	ENST00000540947	NM_173815.6			0			1			A		uc002eqv.2	protein_coding	YES	CCDS42174.3			-/1407										0	c.(1306-1308)GGA>AGA				carboxylesterase 8 (putative)				ENSP00000444052											COSM2149967,COSM2149968		.		ENST00000540947	Transcript				extracellular region	carboxylesterase activity	ENSG00000172824	g.chr16:67040719G>A	26741			MODIFIER	11-Nov	3.56	high	getma.org/?cm=msa&ty=f&p=EST4A_HUMAN&rb=4&re=546&var=G506R	getma.org/pdb.php?prot=EST4A_HUMAN&from=4&to=546&var=G506R	getma.org/?cm=var&var=hg19,16,67040719,G,A&fts=all	G506R	--	--	1																																		CES8_uc010vix.1_Intron|CES8_uc002eqw.2_Intron|CES8_uc002eqy.2_Missense_Mutation_p.G408R|CES8_uc002eqx.2_Missense_Mutation_p.G312R|CES8_uc010viy.1_Intron|CES8_uc010viz.1_Missense_Mutation_p.G408R|CES8_uc002eqz.2_Intron	1,1	1			p.G436R	NM_173815	NP_776176			1,1	EST4A_HUMAN	CES4A	HGNC	Q5XG92	EST4A_HUMAN					11	1349	+			UPI0001E306A2	506					SNV	CES4A,missense_variant,p.Gly506Arg,ENST00000326686,;CES4A,missense_variant,p.Gly459Arg,ENST00000541479,;CES4A,missense_variant,p.Gly436Arg,ENST00000398354,;CES4A,missense_variant,p.Gly399Arg,ENST00000538199,;CES4A,missense_variant,p.Gly408Arg,ENST00000540579,NM_001190201.1;CES4A,intron_variant,,ENST00000540947,NM_173815.6;CES4A,intron_variant,,ENST00000338718,;CES4A,intron_variant,,ENST00000535696,NM_001190202.1;CES4A,intron_variant,,ENST00000397205,;CES4A,splice_region_variant,,ENST00000543561,;CES4A,splice_region_variant,,ENST00000535543,;CES4A,splice_region_variant,,ENST00000544478,;CES4A,intron_variant,,ENST00000567587,;CES4A,intron_variant,,ENST00000535948,;CES4A,downstream_gene_variant,,ENST00000544986,;	uc002eqv.2	c.1306G>A	-/2284	2	2			c.1306G>A						16	SNP	c.(1306-1308)GGA>AGA	41	41				0	Broad	carboxylesterase 8 (putative)			67040719		0.567	ENSG00000172824	3213	g.chr16:67040719G>A		extracellular region	carboxylesterase activity							210.352462	KEEP	19	47	-1	46	44	19	47	-1	210.880741	46	44	0.436242	1	0	0	0	0	1	0	0	0	--	--		0	A			CES8_uc010vix.1_Intron|CES8_uc002eqw.2_Intron|CES8_uc002eqy.2_Missense_Mutation_p.G408R|CES8_uc002eqx.2_Missense_Mutation_p.G312R|CES8_uc010viy.1_Intron|CES8_uc010viz.1_Missense_Mutation_p.G408R|CES8_uc002eqz.2_Intron	27	GBM-06-0155-TP	p.G436R	G	TGCCCGCACAGGGTGAGTCTG	NM_173815	NP_776176	67040719	Q5XG92	EST4A_HUMAN	0			11	1349	+	A	A			Missense_Mutation	506						
CES5A	0	broad.mit.edu	GRCh37	16	55907825	55907825	+	synonymous_variant	Silent	SNP	C	C	T	rs113880150	byFrequency	TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290567.9:c.198G>A	p.Pro66=	p.P66=	ENST00000290567	NM_001143685.1	66	ccG/ccA	0	A:0.0002		1			T	P	uc002eip.2	protein_coding		CCDS45490.1			198/1728										0	c.(196-198)CCG>CCA			hmmpanther:PTHR11559:SF43,hmmpanther:PTHR11559,Gene3D:3.40.50.1820,Pfam_domain:PF00135,Superfamily_domains:SSF53474	carboxylesterase 7 isoform 1			A:0	ENSP00000290567		13-Feb	0.000255			0.00332		1.54E-05		0.000131	rs113880150,COSM2835647,COSM2835646	13-Feb	common_variant		ENST00000290567	Transcript		T:0.0008		extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	ENSG00000159398	g.chr16:55907825C>T	26459			LOW								--	--	1																																		CES7_uc002eio.2_Silent_p.P66P|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_5'UTR	0,1,1				p.P66P	NM_001143685	NP_001137157			0,1,1	EST5A_HUMAN	CES5A	HGNC	Q6NT32	EST5A_HUMAN		all cancers(182;0.229)|Epithelial(162;0.231)	I3NI11_HUMAN,F5H0J7_HUMAN		2	347	-			UPI000035CC44	66					SNV	CES5A,synonymous_variant,p.=,ENST00000521992,NM_001190158.1;CES5A,synonymous_variant,p.=,ENST00000290567,NM_001143685.1;CES5A,synonymous_variant,p.=,ENST00000319165,NM_145024.2;CES5A,synonymous_variant,p.=,ENST00000520435,;CES5A,5_prime_UTR_variant,,ENST00000518005,;CES5A,5_prime_UTR_variant,,ENST00000536025,;CES5A,intron_variant,,ENST00000541580,;CES5A,5_prime_UTR_variant,,ENST00000521228,;CES5A,upstream_gene_variant,,ENST00000544479,;	uc002eip.2	c.198G>A	320/2084	1	1			c.198G>A						16	SNP	c.(196-198)CCG>CCA	10	10				0	Broad	carboxylesterase 7 isoform 1			55907825		0.597	ENSG00000159398	3212	g.chr16:55907825C>T		extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity							12.825606	KEEP	4	4	-1	18	26	4	4	-1	17.674702	18	26	0.159091	1	0	0	0	0	0	0	1	0	--	--		0	T			CES7_uc002eio.2_Silent_p.P66P|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_5'UTR	160	GBM-19-1790-TP	p.P66P	C	GGGATCCCAGCGGGGGAGCAG	NM_001143685	NP_001137157	55907825	Q6NT32	EST5A_HUMAN	0		all cancers(182;0.229)|Epithelial(162;0.231)	2	347	-	T	T			Silent	66						
CETN1	0	broad.mit.edu	GRCh37	18	580606	580606	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-4210-01	TCGA-32-4210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327228.3:c.198G>A	p.Lys66=	p.K66=	ENST00000327228	NM_004066.1	66	aaG/aaA	0			1			A	K	uc002kko.1	protein_coding	YES	CCDS11820.1			198/519									upper_aerodigestive_tract(1)|ovary(1)	2	c.(196-198)AAG>AAA			Superfamily_domains:SSF47473,Gene3D:1.10.238.10,Pfam_domain:PF13499,hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF141,PROSITE_profiles:PS50222	centrin 1				ENSP00000319052		1-Jan	8.24E-06					1.50E-05			rs766531765,COSM3403597	1-Jan	.		ENST00000327228	Transcript			cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	ENSG00000177143	g.chr18:580606G>A	1866			LOW								--	--	1																																			0,1	1			p.K66K	NM_004066	NP_004057			0,1	CETN1_HUMAN	CETN1	HGNC	Q12798	CETN1_HUMAN					1	240	+			UPI0000127517	66			EF-hand 2.		SNV	CETN1,synonymous_variant,p.=,ENST00000327228,NM_004066.1;	uc002kko.1	c.198G>A	240/1158	2	2			c.198G>A						18	SNP	c.(196-198)AAG>AAA	25	25			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	centrin 1			580606		0.557	ENSG00000177143	3214	g.chr18:580606G>A	cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding							-7.436784	KEEP	0	4	-1	25	42	0	4	-1	7.694313	25	42	0.044118	1	0	0	0	0	0	0	1	0	--	--		0	A				245	GBM-32-4210-TP	p.K66K	G	AACCCAGGAAGGAAGAGATGA	NM_004066	NP_004057	580606	Q12798	CETN1_HUMAN	0			1	240	+	A	A			Silent	66			EF-hand 2.			
CETP	1071	broad.mit.edu	GRCh37	16	57007243	57007243	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0033-01	TCGA-02-0033-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000200676.3:c.751G>A	p.Gly251Ser	p.G251S	ENST00000200676	NM_000078.2	251	Ggt/Agt	0			1			A	G/S	uc002eki.2	protein_coding	YES	CCDS10772.1			751/1482									central_nervous_system(1)|skin(1)	2	c.(751-753)GGT>AGT			Gene3D:1ewfA02,Pfam_domain:PF02886,PIRSF_domain:PIRSF037185,hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF12,SMART_domains:SM00328,Superfamily_domains:SSF55394	cholesteryl ester transfer protein, plasma				ENSP00000200676		16-Sep									COSM3402380	16-Sep	.		ENST00000200676	Transcript	1		cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding	ENSG00000087237	g.chr16:57007243G>A	1869			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=CETP_HUMAN&rb=243&re=480&var=G251S	getma.org/pdb.php?prot=CETP_HUMAN&from=243&to=480&var=G251S	getma.org/?cm=var&var=hg19,16,57007243,G,A&fts=all	G251S	--	--	1																																		CETP_uc002ekj.2_Intron	1	1		probably_damaging(1)	p.G251S	NM_000078	NP_000069		deleterious(0.03)	1	CETP_HUMAN	CETP	HGNC	P11597	CETP_HUMAN			Q9H4L8_HUMAN,Q8IWL9_HUMAN,H3BRJ9_HUMAN		9	808	+			UPI000013C62C	251					SNV	CETP,missense_variant,p.Gly251Ser,ENST00000200676,NM_000078.2;CETP,missense_variant,p.Gly186Ser,ENST00000566128,;CETP,intron_variant,,ENST00000379780,NM_001286085.1;CETP,splice_region_variant,,ENST00000569082,;	uc002eki.2	c.751G>A	881/1791	1	1			c.751G>A						16	SNP	c.(751-753)GGT>AGT	64	64			central_nervous_system(1)|skin(1)	2	Broad	cholesteryl ester transfer protein, plasma			57007243		0.597	ENSG00000087237	3217	g.chr16:57007243G>A	cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding							72.338139	KEEP	12	21	-1	65	72	12	21	-1	83.524911	65	72	0.212329	1	0	0	0	0	1	0	0	0	--	--		0	A			CETP_uc002ekj.2_Intron	2	GBM-02-0033-TP	p.G251S	G	CTTCCTCCAGGGTCATTTCAT	NM_000078	NP_000069	57007243	P11597	CETP_HUMAN	0			9	808	+	A	A			Missense_Mutation	251						
CETP	1071	broad.mit.edu	GRCh37	16	57017290	57017290	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-1804-01	TCGA-06-1804-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000200676.3:c.1374C>T	p.Phe458=	p.F458=	ENST00000200676	NM_000078.2	458	ttC/ttT	0		T:0	1	T:0		T	F	uc002eki.2	protein_coding	YES	CCDS10772.1			1374/1482									central_nervous_system(1)|skin(1)	2	c.(1372-1374)TTC>TTT			Gene3D:1ewfA02,Pfam_domain:PF02886,PIRSF_domain:PIRSF037185,hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF12,SMART_domains:SM00329,Superfamily_domains:SSF55394	cholesteryl ester transfer protein, plasma		T:0		ENSP00000200676	T:0	15/16	8.24E-06							6.06E-05	rs544041690,COSM2152463	15/16	.		ENST00000200676	Transcript	1	T:0.0002	cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding	ENSG00000087237	g.chr16:57017290C>T	1869			LOW								--	--	1																																		CETP_uc002ekj.2_Silent_p.F398F	0,1	1			p.F458F	NM_000078	NP_000069	T:0.001		0,1	CETP_HUMAN	CETP	HGNC	P11597	CETP_HUMAN			Q9H4L8_HUMAN,Q8IWL9_HUMAN,H3BRJ9_HUMAN		15	1431	+			UPI000013C62C	458					SNV	CETP,synonymous_variant,p.=,ENST00000200676,NM_000078.2;CETP,synonymous_variant,p.=,ENST00000566128,;CETP,synonymous_variant,p.=,ENST00000379780,NM_001286085.1;	uc002eki.2	c.1374C>T	1504/1791	2	2			c.1374C>T						16	SNP	c.(1372-1374)TTC>TTT	20	20			central_nervous_system(1)|skin(1)	2	Broad	cholesteryl ester transfer protein, plasma			57017290		0.592	ENSG00000087237	3217	g.chr16:57017290C>T	cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding							174.293684	KEEP	28	44	-1	30	41	28	44	-1	174.438727	30	41	0.46281	1	0	0	0	0	0	0	1	0	--	--		0	T			CETP_uc002ekj.2_Silent_p.F398F	79	GBM-06-1804-TP	p.F458F	C	TGAGCCTCTTCGACATCATCA	NM_000078	NP_000069	57017290	P11597	CETP_HUMAN	0			15	1431	+	T	T			Silent	458						
CETP	1071		GRCh37	16	57016107	57016107	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000200676.3:c.1279C>T	p.Gln427Ter	p.Q427*	ENST00000200676	NM_000078.2	427	Cag/Tag	0																																																																																																																																																																																																																																												
CFB	0	broad.mit.edu	GRCh37	6	31915244	31915244	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000425368.2:c.604C>T	p.Arg202Trp	p.R202W	ENST00000425368	NM_001710.5	202	Cgg/Tgg	0		T:0	1	T:0		T	R/W	uc003nyj.3	protein_coding	YES				2110/3801									skin(1)	1	c.(604-606)CGG>TGG			Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF346,SMART_domains:SM00032,Superfamily_domains:SSF57535	complement factor B preproprotein		T:0		ENSP00000410815	T:0.001	16/30	4.25E-05		0.000175			4.74E-05			rs537478097,COSM3410958	16/30	.		ENST00000456570	Transcript		T:0.0002	complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	ENSG00000244255	g.chr6:31915244C>T	1037			MODERATE		2.28	medium	getma.org/?cm=msa&ty=f&p=CFAB_HUMAN&rb=165&re=218&var=R202W	getma.org/pdb.php?prot=CFAB_HUMAN&from=165&to=218&var=R202W	getma.org/?cm=var&var=hg19,6,31915244,C,T&fts=all	R202W	--	--	1																																		CFB_uc011dor.1_Missense_Mutation_p.R704W|CFB_uc003nyi.2_Missense_Mutation_p.R202W	0,1			possibly_damaging(0.728)	p.R202W	NM_001710	NP_001701	T:0	deleterious(0)	0,1		CFB	Uniprot_gn	P00751	CFAB_HUMAN			B4E1Z4_HUMAN		4	882	+			UPI00017A8869	202			Sushi 3.		SNV	CFB,missense_variant,p.Arg704Trp,ENST00000556679,;CFB,missense_variant,p.Arg704Trp,ENST00000456570,;CFB,missense_variant,p.Arg553Trp,ENST00000477310,;CFB,missense_variant,p.Arg202Trp,ENST00000425368,NM_001710.5;C2,downstream_gene_variant,,ENST00000299367,NM_000063.4;C2,downstream_gene_variant,,ENST00000442278,NM_001145903.1;C2,downstream_gene_variant,,ENST00000452323,NM_001178063.1;C2,downstream_gene_variant,,ENST00000469372,NM_001282457.1;C2,downstream_gene_variant,,ENST00000383177,;C2,downstream_gene_variant,,ENST00000497706,;NELFE,downstream_gene_variant,,ENST00000375429,NM_002904.5;NELFE,downstream_gene_variant,,ENST00000375425,;NELFE,downstream_gene_variant,,ENST00000444811,;CFB,upstream_gene_variant,,ENST00000483004,;CFB,upstream_gene_variant,,ENST00000498317,;CFB,downstream_gene_variant,,ENST00000475617,;CFB,upstream_gene_variant,,ENST00000497841,;C2,downstream_gene_variant,,ENST00000468407,;CFB,3_prime_UTR_variant,,ENST00000460718,;CFB,non_coding_transcript_exon_variant,,ENST00000452035,;CFB,non_coding_transcript_exon_variant,,ENST00000461483,;C2,downstream_gene_variant,,ENST00000486124,;C2,downstream_gene_variant,,ENST00000482060,NM_001282458.1;NELFE,downstream_gene_variant,,ENST00000488426,;NELFE,downstream_gene_variant,,ENST00000492185,;NELFE,downstream_gene_variant,,ENST00000481121,;CFB,upstream_gene_variant,,ENST00000467360,;CFB,downstream_gene_variant,,ENST00000472581,;C2,downstream_gene_variant,,ENST00000485690,;CFB,upstream_gene_variant,,ENST00000482312,;CFB,upstream_gene_variant,,ENST00000465750,;CFB,upstream_gene_variant,,ENST00000467150,;CFB,upstream_gene_variant,,ENST00000482886,;	uc003nyj.3	c.604C>T	2165/3874	2	2			c.604C>T						6	SNP	c.(604-606)CGG>TGG	40	40			skin(1)	1	Broad	complement factor B preproprotein			31915244		0.632	ENSG00000244255	3218	g.chr6:31915244C>T	complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity							40.435565	KEEP	11	15	-1	60	61	11	15	-1	50.897008	60	61	0.181818	1	0	0	0	0	1	0	0	0	--	--		0	T			CFB_uc011dor.1_Missense_Mutation_p.R704W|CFB_uc003nyi.2_Missense_Mutation_p.R202W	160	GBM-19-1790-TP	p.R202W	C	TGGCTCCCAGCGGCGAACGTG	NM_001710	NP_001701	31915244	P00751	CFAB_HUMAN	0			4	882	+	T	T			Missense_Mutation	202			Sushi 3.			
CFH	0	broad.mit.edu	GRCh37	1	196709801	196709801	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-32-1991-01	TCGA-32-1991-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367429.4:c.2835G>T	p.Met945Ile	p.M945I	ENST00000367429	NM_000186.3	945	atG/atT	0			1			T	M/I	uc001gtj.3	protein_coding	YES	CCDS1385.1			2835/3696									skin(4)|ovary(1)|breast(1)	6	c.(2833-2835)ATG>ATT			Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF310,SMART_domains:SM00032,Superfamily_domains:SSF57535	complement factor H isoform a precursor				ENSP00000356399		18/22									COSM3400148	18/22	.		ENST00000367429	Transcript	1		complement activation, alternative pathway	extracellular space		ENSG00000000971	g.chr1:196709801G>T	4883			MODERATE		0.185	neutral	getma.org/?cm=msa&ty=f&p=CFAH_HUMAN&rb=931&re=984&var=M945I	getma.org/pdb.php?prot=CFAH_HUMAN&from=931&to=984&var=M945I	getma.org/?cm=var&var=hg19,1,196709801,G,T&fts=all	M945I	--	--	1																																			1	1		benign(0.008)	p.M945I	NM_000186	NP_000177		tolerated(0.13)	1	CFAH_HUMAN	CFH	HGNC	P08603	CFAH_HUMAN					18	3075	+			UPI000013C4D1	945			Sushi 16.		SNV	CFH,missense_variant,p.Met945Ile,ENST00000367429,NM_000186.3;CFH,non_coding_transcript_exon_variant,,ENST00000466229,;CFH,non_coding_transcript_exon_variant,,ENST00000470918,;	uc001gtj.3	c.2835G>T	3075/4127	1	1			c.2835G>T						1	SNP	c.(2833-2835)ATG>ATT	12	12			skin(4)|ovary(1)|breast(1)	6	Broad	complement factor H isoform a precursor			196709801		0.353	ENSG00000000971	3221	g.chr1:196709801G>T	complement activation, alternative pathway	extracellular space								403.427672	KEEP	58	82	0.414285714	90	91	58	82	0.414285714	404.687902	90	91	0.429553	1	0	0	0	0	1	0	0	0	--	--		0	T				234	GBM-32-1991-TP	p.M945I	G	TAGCTCACATGTCAGACAGTT	NM_000186	NP_000177	196709801	P08603	CFAH_HUMAN	0			18	3075	+	T	T			Missense_Mutation	945			Sushi 16.			
CFH	0	broad.mit.edu	GRCh37	1	196694295	196694295	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4209-01	TCGA-32-4209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367429.4:c.1741G>A	p.Asp581Asn	p.D581N	ENST00000367429	NM_000186.3	581	Gat/Aat	0			1			A	D/N	uc001gtj.3	protein_coding	YES	CCDS1385.1			1741/3696									skin(4)|ovary(1)|breast(1)	6	c.(1741-1743)GAT>AAT			Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF310,SMART_domains:SM00032,Superfamily_domains:SSF57535	complement factor H isoform a precursor				ENSP00000356399		22-Dec									COSM3400147	22-Dec	.		ENST00000367429	Transcript	1		complement activation, alternative pathway	extracellular space		ENSG00000000971	g.chr1:196694295G>A	4883			MODERATE		0.255	neutral	getma.org/?cm=msa&ty=f&p=CFAH_HUMAN&rb=569&re=623&var=D581N	getma.org/pdb.php?prot=CFAH_HUMAN&from=569&to=623&var=D581N	getma.org/?cm=var&var=hg19,1,196694295,G,A&fts=all	D581N	--	--	1																																			1	1		benign(0.005)	p.D581N	NM_000186	NP_000177		tolerated(0.61)	1	CFAH_HUMAN	CFH	HGNC	P08603	CFAH_HUMAN					12	1981	+			UPI000013C4D1	581			Sushi 10.		SNV	CFH,missense_variant,p.Asp581Asn,ENST00000367429,NM_000186.3;CFH,non_coding_transcript_exon_variant,,ENST00000466229,;	uc001gtj.3	c.1741G>A	1981/4127	1	1			c.1741G>A						1	SNP	c.(1741-1743)GAT>AAT	63	63			skin(4)|ovary(1)|breast(1)	6	Broad	complement factor H isoform a precursor			196694295		0.343	ENSG00000000971	3221	g.chr1:196694295G>A	complement activation, alternative pathway	extracellular space								264.888045	KEEP	56	47	-1	89	100	56	47	-1	269.179762	89	100	0.364662	1	0	0	0	0	1	0	0	0	--	--		0	A				244	GBM-32-4209-TP	p.D581N	G	CTTAGTTCCTGATCGCAAGAA	NM_000186	NP_000177	196694295	P08603	CFAH_HUMAN	0			12	1981	+	A	A			Missense_Mutation	581			Sushi 10.			
CFHR2	0	broad.mit.edu	GRCh37	1	196927110	196927110	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-12-3650-01	TCGA-12-3650-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367415.5:c.520G>T	p.Val174Phe	p.V174F	ENST00000367415	NM_005666.2	174	Gtt/Ttt	0			1			T	V/F	uc001gtq.1	protein_coding	YES	CCDS30959.1			520/813									skin(2)|ovary(1)	3	c.(520-522)GTT>TTT			Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF325,SMART_domains:SM00032,Superfamily_domains:SSF57535	H factor (complement)-like 3 precursor				ENSP00000356385		5-Apr									COSM3400153	5-Apr	.		ENST00000367415	Transcript				extracellular region		ENSG00000080910	g.chr1:196927110G>T	4890			MODERATE		4.355	high	getma.org/?cm=msa&ty=f&p=FHR2_HUMAN&rb=149&re=203&var=V174F	getma.org/pdb.php?prot=FHR2_HUMAN&from=149&to=203&var=V174F	getma.org/?cm=var&var=hg19,1,196927110,G,T&fts=all	V174F	--	--	1																																		CFHR2_uc001gtr.1_Missense_Mutation_p.V50F	1	1		benign(0.069)	p.V174F	NM_005666	NP_005657		deleterious(0.04)	1	FHR2_HUMAN	CFHR2	HGNC	P36980	FHR2_HUMAN					4	597	+			UPI000012A73B	174			Sushi 3.		SNV	CFHR2,missense_variant,p.Val174Phe,ENST00000367415,NM_005666.2;CFHR2,missense_variant,p.Val174Phe,ENST00000367421,;CFHR2,missense_variant,p.Val158Phe,ENST00000476712,;CFHR2,non_coding_transcript_exon_variant,,ENST00000496448,;CFHR2,non_coding_transcript_exon_variant,,ENST00000473386,;	uc001gtq.1	c.520G>T	620/1059	1	1			c.520G>T						1	SNP	c.(520-522)GTT>TTT	13	13			skin(2)|ovary(1)	3	Broad	H factor (complement)-like 3 precursor			196927110		0.403	ENSG00000080910	3223	g.chr1:196927110G>T		extracellular region								224.626105	KEEP	44	30	0.594594595	48	44	44	30	0.594594595	225.121301	48	44	0.440252	1	0	0	0	0	1	0	0	0	--	--		0	T			CFHR2_uc001gtr.1_Missense_Mutation_p.V50F	126	GBM-12-3650-TP	p.V174F	G	AGGTTCATCAGTTGAGTACCA	NM_005666	NP_005657	196927110	P36980	FHR2_HUMAN	0			4	597	+	T	T			Missense_Mutation	174			Sushi 3.			
CFHR3	0	broad.mit.edu	GRCh37	1	196749091	196749091	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-27-2527-01	TCGA-27-2527-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367425.4:c.418T>C	p.Cys140Arg	p.C140R	ENST00000367425	NM_021023.5	140	Tgc/Cgc	0			1			C	C/R	uc001gtl.2	protein_coding	YES	CCDS30958.1			418/993										0	c.(418-420)TGC>CGC			Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF310,SMART_domains:SM00032,Superfamily_domains:SSF57535	complement factor H-related 3 precursor				ENSP00000356395		6-Mar	3.45E-05			0.000464					rs747461704,COSM2157301	6-Mar	common_variant		ENST00000367425	Transcript	1			extracellular space		ENSG00000116785	g.chr1:196749091T>C	16980			MODERATE		3.87	high	getma.org/?cm=msa&ty=f&p=FHR3_HUMAN&rb=84&re=140&var=C140R	getma.org/pdb.php?prot=FHR3_HUMAN&from=84&to=140&var=C140R	getma.org/?cm=var&var=hg19,1,196749091,T,C&fts=all	C140R	--	--	1																																		CFHR3_uc001gtk.2_Missense_Mutation_p.C140R|CFHR3_uc010poy.1_Missense_Mutation_p.C140R|CFHR1_uc001gtm.2_Intron	0,1	1		possibly_damaging(0.762)	p.C140R	NM_021023	NP_066303		deleterious(0)	0,1	FHR3_HUMAN	CFHR3	HGNC	Q02985	FHR3_HUMAN					3	505	+			UPI000012A73C	140			Sushi 2.		SNV	CFHR3,missense_variant,p.Cys140Arg,ENST00000471440,;CFHR3,missense_variant,p.Cys140Arg,ENST00000367425,NM_021023.5;CFHR3,missense_variant,p.Cys140Arg,ENST00000391985,NM_001166624.1;CFHR3,missense_variant,p.Cys140Arg,ENST00000367427,;	uc001gtl.2	c.418T>C	510/1645	3	3			c.418T>C						1	SNP	c.(418-420)TGC>CGC	64	64				0	Broad	complement factor H-related 3 precursor			196749091		0.493	ENSG00000116785	3224	g.chr1:196749091T>C		extracellular space								55.673152	KEEP	10	14	-1	26	32	10	14	-1	58.403311	26	32	0.289855	1	0	0	0	0	1	0	0	0	--	--		0	C			CFHR3_uc001gtk.2_Missense_Mutation_p.C140R|CFHR3_uc010poy.1_Missense_Mutation_p.C140R|CFHR1_uc001gtm.2_Intron	204	GBM-27-2527-TP	p.C140R	T	TACTCCCAGATGCATCCGTGT	NM_021023	NP_066303	196749091	Q02985	FHR3_HUMAN	0			3	505	+	C	C			Missense_Mutation	140			Sushi 2.			
CFHR3	0	broad.mit.edu	GRCh37	1	196749101	196749101	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A			TCGA-27-2527-01	TCGA-27-2527-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367425.4:c.428T>A	p.Val143Asp	p.V143D	ENST00000367425	NM_021023.5	143	gTc/gAc	0			1			A	V/D	uc001gtl.2	protein_coding	YES	CCDS30958.1			428/993										0	c.(427-429)GTC>GAC			hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF310,Superfamily_domains:SSF57535	complement factor H-related 3 precursor				ENSP00000356395		6-Mar									COSM2157316	6-Mar	.		ENST00000367425	Transcript	1			extracellular space		ENSG00000116785	g.chr1:196749101T>A	16980			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=FHR3_HUMAN&rb=111&re=174&var=V143D	getma.org/pdb.php?prot=FHR3_HUMAN&from=141&to=144&var=V143D	getma.org/?cm=var&var=hg19,1,196749101,T,A&fts=all	V143D	--	--	1																																		CFHR3_uc001gtk.2_Missense_Mutation_p.V143D|CFHR3_uc010poy.1_Missense_Mutation_p.V143D|CFHR1_uc001gtm.2_Intron	1	1		benign(0.119)	p.V143D	NM_021023	NP_066303		deleterious(0.01)	1	FHR3_HUMAN	CFHR3	HGNC	Q02985	FHR3_HUMAN					3	515	+			UPI000012A73C	143	V -> D (in Ref. 1; CAA48639).				SNV	CFHR3,missense_variant,p.Val143Asp,ENST00000471440,;CFHR3,missense_variant,p.Val143Asp,ENST00000367425,NM_021023.5;CFHR3,missense_variant,p.Val143Asp,ENST00000391985,NM_001166624.1;CFHR3,missense_variant,p.Val143Asp,ENST00000367427,;	uc001gtl.2	c.428T>A	520/1645	1	1			c.428T>A						1	SNP	c.(427-429)GTC>GAC	51	51				0	Broad	complement factor H-related 3 precursor			196749101		0.478	ENSG00000116785	3224	g.chr1:196749101T>A		extracellular space								43.744518	KEEP	9	11	-1	28	31	9	11	-1	47.259696	28	31	0.257576	1	0	0	0	0	1	0	0	0	--	--		0	A			CFHR3_uc001gtk.2_Missense_Mutation_p.V143D|CFHR3_uc010poy.1_Missense_Mutation_p.V143D|CFHR1_uc001gtm.2_Intron	204	GBM-27-2527-TP	p.V143D	T	TGCATCCGTGTCAGTAAGTAC	NM_021023	NP_066303	196749101	Q02985	FHR3_HUMAN	0			3	515	+	A	A			Missense_Mutation	143	V -> D (in Ref. 1; CAA48639).					
CFHR4	0	broad.mit.edu	GRCh37	1	196884097	196884097	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-12-0692-01	TCGA-12-0692-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367416.2:c.1366A>C	p.Lys456Gln	p.K456Q	ENST00000367416	NM_001201551.1	456	Aag/Cag	0			1			C	K/Q	uc001gto.2	protein_coding	YES	CCDS55671.1			1366/1734									ovary(1)|pancreas(1)|skin(1)	3	c.(628-630)AAG>CAG			PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF328,Superfamily_domains:SSF57535	complement factor H-related 4 precursor				ENSP00000356386		10-Sep									COSM2154260,COSM2154259	10-Sep	.		ENST00000367416	Transcript				extracellular region	lipid transporter activity	ENSG00000134365	g.chr1:196884097A>C	16979			MODERATE		1.74	low	getma.org/?cm=msa&ty=f&p=FHR4_HUMAN&rb=209&re=267&var=K210Q	getma.org/pdb.php?prot=FHR4_HUMAN&from=209&to=267&var=K210Q	getma.org/?cm=var&var=hg19,1,196884097,A,C&fts=all	K210Q	--	--	1																																		CFHR4_uc009wyy.2_Missense_Mutation_p.K456Q|CFHR4_uc001gtp.2_Missense_Mutation_p.K457Q	1,1	1		benign(0.403)	p.K210Q	NM_006684	NP_006675		tolerated(0.29)	1,1	FHR4_HUMAN	CFHR4	HGNC	Q92496	FHR4_HUMAN					5	697	+			UPI0001F6C576	210			Sushi 4.		SNV	CFHR4,missense_variant,p.Lys456Gln,ENST00000367416,NM_001201551.1,NM_001201550.2;CFHR4,missense_variant,p.Lys80Gln,ENST00000608469,;CFHR4,missense_variant,p.Lys210Gln,ENST00000251424,NM_006684.4;CFHR4,missense_variant,p.Lys210Gln,ENST00000367418,;CFHR2,intron_variant,,ENST00000367421,;	uc001gto.2	c.628A>C	1503/2178	3	3			c.628A>C						1	SNP	c.(628-630)AAG>CAG	5	5			ovary(1)|pancreas(1)|skin(1)	3	Broad	complement factor H-related 4 precursor			196884097		0.358	ENSG00000134365	3225	g.chr1:196884097A>C		extracellular region	lipid transporter activity							155.668068	KEEP	37	39	-1	69	61	37	39	-1	155.809926	69	61	0.459184	1	0	0	0	0	1	0	0	0	--	--		0	C			CFHR4_uc009wyy.2_Missense_Mutation_p.K456Q|CFHR4_uc001gtp.2_Missense_Mutation_p.K457Q	122	GBM-12-0692-TP	p.K210Q	A	TTCTTCAGAAAAGTGTGGGCC	NM_006684	NP_006675	196884097	Q92496	FHR4_HUMAN	0			5	697	+	C	C			Missense_Mutation	210			Sushi 4.			
CFHR4	0	broad.mit.edu	GRCh37	1	196887345	196887345	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-26-1442-01	TCGA-26-1442-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367416.2:c.1543T>C	p.Cys515Arg	p.C515R	ENST00000367416	NM_001201551.1	515	Tgt/Cgt	0			1			C	C/R	uc001gto.2	protein_coding	YES	CCDS55671.1			1543/1734									ovary(1)|pancreas(1)|skin(1)	3	c.(805-807)TGT>CGT			hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF328,Superfamily_domains:SSF57535	complement factor H-related 4 precursor				ENSP00000356386		10-Oct									COSM2156893,COSM2156892	10-Oct	.		ENST00000367416	Transcript				extracellular region	lipid transporter activity	ENSG00000134365	g.chr1:196887345T>C	16979			MODERATE		2.925	medium	getma.org/?cm=msa&ty=f&p=FHR4_HUMAN&rb=268&re=331&var=C269R	getma.org/pdb.php?prot=FHR4_HUMAN&from=268&to=331&var=C269R	getma.org/?cm=var&var=hg19,1,196887345,T,C&fts=all	C269R	--	--	1																																		CFHR4_uc009wyy.2_Missense_Mutation_p.C515R|CFHR4_uc001gtp.2_Missense_Mutation_p.C516R	1,1	1		probably_damaging(0.992)	p.C269R	NM_006684	NP_006675		deleterious(0)	1,1	FHR4_HUMAN	CFHR4	HGNC	Q92496	FHR4_HUMAN					6	874	+			UPI0001F6C576	269			Sushi 5.		SNV	CFHR4,missense_variant,p.Cys515Arg,ENST00000367416,NM_001201551.1,NM_001201550.2;CFHR4,missense_variant,p.Cys139Arg,ENST00000608469,;CFHR4,missense_variant,p.Cys269Arg,ENST00000251424,NM_006684.4;CFHR4,missense_variant,p.Cys269Arg,ENST00000367418,;CFHR2,intron_variant,,ENST00000367421,;	uc001gto.2	c.805T>C	1680/2178	4	4			c.805T>C						1	SNP	c.(805-807)TGT>CGT	34	34			ovary(1)|pancreas(1)|skin(1)	3	Broad	complement factor H-related 4 precursor			196887345		0.259	ENSG00000134365	3225	g.chr1:196887345T>C		extracellular region	lipid transporter activity							25.525774	KEEP	3	4	-1	5	2	3	4	-1	25.525774	5	2	0.5	1	0	0	0	0	1	0	0	0	--	--		0	C			CFHR4_uc009wyy.2_Missense_Mutation_p.C515R|CFHR4_uc001gtp.2_Missense_Mutation_p.C516R	180	GBM-26-1442-TP	p.C269R	T	TTCAGATCCATGTATAATAAC	NM_006684	NP_006675	196887345	Q92496	FHR4_HUMAN	0			6	874	+	C	C			Missense_Mutation	269			Sushi 5.			
CFHR4	0	broad.mit.edu	GRCh37	1	196887346	196887346	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-27-1838-01	TCGA-27-1838-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367416.2:c.1544G>T	p.Cys515Phe	p.C515F	ENST00000367416	NM_001201551.1	515	tGt/tTt	0			1			T	C/F	uc001gto.2	protein_coding	YES	CCDS55671.1			1544/1734									ovary(1)|pancreas(1)|skin(1)	3	c.(805-807)TGT>TTT			hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF328,Superfamily_domains:SSF57535	complement factor H-related 4 precursor				ENSP00000356386		10-Oct									COSM3400152,COSM3400151	10-Oct	.		ENST00000367416	Transcript				extracellular region	lipid transporter activity	ENSG00000134365	g.chr1:196887346G>T	16979			MODERATE		2.925	medium	getma.org/?cm=msa&ty=f&p=FHR4_HUMAN&rb=268&re=331&var=C269F	getma.org/pdb.php?prot=FHR4_HUMAN&from=268&to=331&var=C269F	getma.org/?cm=var&var=hg19,1,196887346,G,T&fts=all	C269F	--	--	1																																		CFHR4_uc009wyy.2_Missense_Mutation_p.C515F|CFHR4_uc001gtp.2_Missense_Mutation_p.C516F	1,1	1		probably_damaging(0.921)	p.C269F	NM_006684	NP_006675		deleterious(0)	1,1	FHR4_HUMAN	CFHR4	HGNC	Q92496	FHR4_HUMAN					6	875	+			UPI0001F6C576	269			Sushi 5.		SNV	CFHR4,missense_variant,p.Cys515Phe,ENST00000367416,NM_001201551.1,NM_001201550.2;CFHR4,missense_variant,p.Cys139Phe,ENST00000608469,;CFHR4,missense_variant,p.Cys269Phe,ENST00000251424,NM_006684.4;CFHR4,missense_variant,p.Cys269Phe,ENST00000367418,;CFHR2,intron_variant,,ENST00000367421,;	uc001gto.2	c.806G>T	1681/2178	2	2			c.806G>T						1	SNP	c.(805-807)TGT>TTT	28	28			ovary(1)|pancreas(1)|skin(1)	3	Broad	complement factor H-related 4 precursor			196887346		0.264	ENSG00000134365	3225	g.chr1:196887346G>T		extracellular region	lipid transporter activity							-9.775321	KEEP	1	3	0.25	45	36	1	3	0.25	7.972979	45	36	0.04878	1	0	0	0	0	1	0	0	0	--	--		0	T			CFHR4_uc009wyy.2_Missense_Mutation_p.C515F|CFHR4_uc001gtp.2_Missense_Mutation_p.C516F	197	GBM-27-1838-TP	p.C269F	G	TCAGATCCATGTATAATAACT	NM_006684	NP_006675	196887346	Q92496	FHR4_HUMAN	0			6	875	+	T	T			Missense_Mutation	269			Sushi 5.			
CFHR5	0	broad.mit.edu	GRCh37	1	196964877	196964877	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-14-1395-01	TCGA-14-1395-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256785.4:c.638A>T	p.Gln213Leu	p.Q213L	ENST00000256785		213	cAa/cTa	0			1			T	Q/L	uc001gts.3	protein_coding	YES	CCDS1387.1			638/1710									breast(1)|skin(1)	2	c.(637-639)CAA>CTA			Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF328,SMART_domains:SM00032,Superfamily_domains:SSF57535	complement factor H-related 5 precursor				ENSP00000256785		10-May									COSM3400154,COSM3400155	10-May	.		ENST00000256785	Transcript	1		complement activation, alternative pathway	extracellular region		ENSG00000134389	g.chr1:196964877A>T	24668			MODERATE		1.38	low	getma.org/?cm=msa&ty=f&p=FHR5_HUMAN&rb=208&re=262&var=Q213L	getma.org/pdb.php?prot=FHR5_HUMAN&from=208&to=262&var=Q213L	getma.org/?cm=var&var=hg19,1,196964877,A,T&fts=all	Q213L	--	--	1																																			1,1	1		possibly_damaging(0.534)	p.Q213L	NM_030787	NP_110414		deleterious(0)	1,1	FHR5_HUMAN	CFHR5	HGNC	Q9BXR6	FHR5_HUMAN					5	766	+			UPI0000043814	213			Sushi 4.		SNV	CFHR5,missense_variant,p.Gln237Leu,ENST00000367414,NM_030787.3;CFHR5,missense_variant,p.Gln213Leu,ENST00000256785,;	uc001gts.3	c.638A>T	747/2810	2	2			c.638A>T						1	SNP	c.(637-639)CAA>CTA	24	24			breast(1)|skin(1)	2	Broad	complement factor H-related 5 precursor			196964877		0.333	ENSG00000134389	3226	g.chr1:196964877A>T	complement activation, alternative pathway	extracellular region								146.650587	KEEP	22	32	-1	32	22	22	32	-1	146.652993	32	22	0.505495	1	0	0	0	0	1	0	0	0	--	--		0	T				144	GBM-14-1395-TP	p.Q213L	A	CCACCTCCTCAACTCTCCAAT	NM_030787	NP_110414	196964877	Q9BXR6	FHR5_HUMAN	0			5	766	+	T	T			Missense_Mutation	213			Sushi 4.			
CFHR5	81494		GRCh37	1	196964976	196964976	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0151-01	TCGA-06-0151-01																				ENST00000256785.4:c.737C>G	p.Pro246Arg	p.P246R	ENST00000256785		246	cCt/cGt	0																																																																																																																																																																																																																																												
CFHR5	81494		GRCh37	1	196977626	196977626	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000256785.4:c.1523T>C	p.Val508Ala	p.V508A	ENST00000256785		508	gTg/gCg	0																																																																																																																																																																																																																																												
CFI	0	broad.mit.edu	GRCh37	4	110663746	110663746	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01	TCGA-12-3652-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394634.2:c.1435G>A	p.Glu479Lys	p.E479K	ENST00000394634	NM_000204.3	479	Gaa/Aaa	0			1			T	E/K	uc003hzr.3	protein_coding	YES	CCDS34049.1			1435/1752										0	c.(1435-1437)GAA>AAA			Superfamily_domains:SSF50494,SMART_domains:SM00020,Pfam_domain:PF00089,Gene3D:2.40.10.10,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF13,PROSITE_profiles:PS50240	complement factor I preproprotein				ENSP00000378130		13-Dec									COSM1049971	13-Dec	.		ENST00000394634	Transcript	1		complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity	ENSG00000205403	g.chr4:110663746C>T	5394			MODERATE		0.36	neutral	getma.org/?cm=msa&ty=f&p=CFAI_HUMAN&rb=340&re=569&var=E479K	getma.org/pdb.php?prot=CFAI_HUMAN&from=340&to=569&var=E479K	getma.org/?cm=var&var=hg19,4,110663746,C,T&fts=all	E479K	--	--	1																																		CFI_uc003hzq.2_Missense_Mutation_p.E276K|CFI_uc011cft.1_Missense_Mutation_p.E487K|CFI_uc003hzs.3_Missense_Mutation_p.E472K	1	1		benign(0.002)	p.E479K	NM_000204	NP_000195		tolerated(0.98)	1	CFAI_HUMAN	CFI	HGNC	P05156	CFAI_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000331)	Q6LAM0_HUMAN,D6R9Z8_HUMAN		12	1643	-		Hepatocellular(203;0.217)	UPI0000D615A9	479			Peptidase S1.		SNV	CFI,missense_variant,p.Glu479Lys,ENST00000394634,NM_000204.3;CFI,missense_variant,p.Glu487Lys,ENST00000394635,;CFI,missense_variant,p.Glu472Lys,ENST00000512148,;CFI,non_coding_transcript_exon_variant,,ENST00000504853,;CFI,non_coding_transcript_exon_variant,,ENST00000515512,;	uc003hzr.3	c.1435G>A	1643/2157	2	2			c.1435G>A						4	SNP	c.(1435-1437)GAA>AAA	21	21				0	Broad	complement factor I preproprotein			110663746		0.338	ENSG00000205403	3227	g.chr4:110663746C>T	complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity		p.E472K(HT115-Tumor)	317		p.E472K(HT115-Tumor)	317	149.98712	KEEP	24	28	-1	32	37	24	28	-1	150.32458	32	37	0.440367	1	0	0	0	0	1	0	0	0	--	--		0	T			CFI_uc003hzq.2_Missense_Mutation_p.E276K|CFI_uc011cft.1_Missense_Mutation_p.E487K|CFI_uc003hzs.3_Missense_Mutation_p.E472K	127	GBM-12-3652-TP	p.E479K	C	AAGACTCTTTCGTTATCTAAA	NM_000204	NP_000195	110663746	P05156	CFAI_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;0.000331)	12	1643	-	T	T		Hepatocellular(203;0.217)	Missense_Mutation	479			Peptidase S1.			
CFL2	0	broad.mit.edu	GRCh37	14	35182132	35182132	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1980-01	TCGA-32-1980-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298159.6:c.440C>T	p.Ser147Leu	p.S147L	ENST00000298159	NM_138638.4	147	tCg/tTg	0			1			A	S/L	uc001wsg.3	protein_coding		CCDS9649.1			440/501									breast(2)	2	c.(439-441)TCG>TTG			Superfamily_domains:SSF55753,SMART_domains:SM00102,Gene3D:3.40.20.10,Pfam_domain:PF00241,hmmpanther:PTHR11913:SF15,hmmpanther:PTHR11913,PROSITE_profiles:PS51263	cofilin 2				ENSP00000298159		4-Apr	1.65E-05	9.63E-05				1.50E-05			rs757526740,COSM955443	4-Apr	.		ENST00000298159	Transcript	1			cytoplasm|cytoskeleton|nuclear matrix	actin binding	ENSG00000165410	g.chr14:35182132G>A	1875			MODERATE		1.665	low	getma.org/?cm=msa&ty=f&p=COF2_HUMAN&rb=20&re=154&var=S147L	getma.org/pdb.php?prot=COF2_HUMAN&from=20&to=154&var=S147L	getma.org/?cm=var&var=hg19,14,35182132,G,A&fts=all	S147L	--	--	1																																		CFL2_uc010tpn.1_Missense_Mutation_p.S130L|CFL2_uc001wsh.3_Missense_Mutation_p.S147L|CFL2_uc001wsi.3_RNA|CFL2_uc001wsj.3_RNA	0,1			benign(0.016)	p.S147L	NM_021914	NP_068733		tolerated(0.4)	0,1	COF2_HUMAN	CFL2	HGNC	Q9Y281	COF2_HUMAN	LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)	Q549N0_HUMAN		4	581	-	Breast(36;0.0361)|Hepatocellular(127;0.158)		UPI0000001236	147			ADF-H.		SNV	CFL2,missense_variant,p.Ser147Leu,ENST00000341223,NM_021914.7,NM_001243645.1;CFL2,missense_variant,p.Ser147Leu,ENST00000298159,NM_138638.4;CFL2,missense_variant,p.Ser130Leu,ENST00000555765,;CFL2,missense_variant,p.Ser130Leu,ENST00000556161,;CFL2,3_prime_UTR_variant,,ENST00000554470,;CFL2,3_prime_UTR_variant,,ENST00000422678,;	uc001wsg.3	c.440C>T	590/3129	2	2			c.440C>T						14	SNP	c.(439-441)TCG>TTG	26	26			breast(2)	2	Broad	cofilin 2			35182132		0.338	ENSG00000165410	3229	g.chr14:35182132G>A		cytoplasm|cytoskeleton|nuclear matrix	actin binding							5.814594	KEEP	5	2	-1	25	31	5	2	-1	13.885862	25	31	0.111111	1	0	0	0	0	1	0	0	0	--	--		0	A			CFL2_uc010tpn.1_Missense_Mutation_p.S130L|CFL2_uc001wsh.3_Missense_Mutation_p.S147L|CFL2_uc001wsi.3_RNA|CFL2_uc001wsj.3_RNA	231	GBM-32-1980-TP	p.S147L	G	TCCAAGTGTCGAACGGTCCTT	NM_021914	NP_068733	35182132	Q9Y281	COF2_HUMAN	0	LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)	4	581	-	A	A	Breast(36;0.0361)|Hepatocellular(127;0.158)		Missense_Mutation	147			ADF-H.			
CFP	0	broad.mit.edu	GRCh37	X	47486279	47486279	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-14-1825-01	TCGA-14-1825-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000247153.3:c.833C>A	p.Thr278Asn	p.T278N	ENST00000247153	NM_002621.2	278	aCc/aAc	0			1			T	T/N	uc004dig.3	protein_coding	YES	CCDS14282.1			833/1410									breast(2)|lung(1)	3	c.(832-834)ACC>AAC			Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR22906,SMART_domains:SM00209,Superfamily_domains:SSF82895	complement factor properdin precursor				ENSP00000247153		10-Jul									COSM3406395	10-Jul	.		ENST00000247153	Transcript	1		complement activation, alternative pathway|defense response to bacterium	extracellular space		ENSG00000126759	g.chrX:47486279G>T	8864			MODERATE		1.34	low	getma.org/?cm=msa&ty=f&p=PROP_HUMAN&rb=261&re=312&var=T278N	getma.org/pdb.php?prot=PROP_HUMAN&from=261&to=312&var=T278N	getma.org/?cm=var&var=hg19,X,47486279,G,T&fts=all	T278N	--	--	1																																		CFP_uc004dih.2_Missense_Mutation_p.T278N|CFP_uc004dii.1_Missense_Mutation_p.T214N|CFP_uc010nhu.2_Missense_Mutation_p.T278N	1	1		benign(0.043)	p.T278N	NM_001145252	NP_001138724		tolerated(0.19)	1	PROP_HUMAN	CFP	HGNC	P27918	PROP_HUMAN			E9PAQ1_HUMAN,C9J7V5_HUMAN		6	959	-			UPI0000132325	278			TSP type-1 4.		SNV	CFP,missense_variant,p.Thr278Asn,ENST00000247153,NM_002621.2;CFP,missense_variant,p.Thr278Asn,ENST00000396992,NM_001145252.1;CFP,missense_variant,p.Thr278Asn,ENST00000377005,;CFP,missense_variant,p.Thr143Asn,ENST00000469388,;CFP,downstream_gene_variant,,ENST00000480317,;CFP,non_coding_transcript_exon_variant,,ENST00000485991,;CFP,upstream_gene_variant,,ENST00000478222,;	uc004dig.3	c.833C>A	1075/1713	1	1			c.833C>A						23	SNP	c.(832-834)ACC>AAC	7	7			breast(2)|lung(1)	3	Broad	complement factor properdin precursor			47486279		0.662	ENSG00000126759	3231	g.chrX:47486279G>T	complement activation, alternative pathway|defense response to bacterium	extracellular space								42.231595	KEEP	8	5	0.615384615	1	0	8	5	0.615384615	44.09194	1	0	0.923077	1	0	0	0	0	1	0	0	0	--	--		0	T			CFP_uc004dih.2_Missense_Mutation_p.T278N|CFP_uc004dii.1_Missense_Mutation_p.T214N|CFP_uc010nhu.2_Missense_Mutation_p.T278N	148	GBM-14-1825-TP	p.T278N	G	TTGTTCCATGGTCTGGCCCAG	NM_001145252	NP_001138724	47486279	P27918	PROP_HUMAN	0			6	959	-	T	T			Missense_Mutation	278			TSP type-1 4.			
CFP	5199		GRCh37	X	47486225	47486225	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000247153.3:c.887G>C	p.Cys296Ser	p.C296S	ENST00000247153	NM_002621.2	296	tGt/tCt	0																																																																																																																																																																																																																																												
CFTR	0	broad.mit.edu	GRCh37	7	117306983	117306983	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000003084.6:c.4264C>T	p.Arg1422Trp	p.R1422W	ENST00000003084	NM_000492.3	1422	Cgg/Tgg	0	T:0		1			T	R/W	uc003vjd.2	protein_coding	YES	CCDS5773.1			4264/4443						not_provided			central_nervous_system(2)|skin(2)|ovary(1)	5	c.(4264-4266)CGG>TGG			Gene3D:3.40.50.300,PROSITE_profiles:PS50893,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF19,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR01271	cystic fibrosis transmembrane conductance	Bumetanide(DB00887)|Glibenclamide(DB01016)		T:0.0001	ENSP00000003084		27/27	3.29E-05					4.51E-05		6.07E-05	rs373172017,COSM3411520	27/27	.	Cystic_Fibrosis	ENST00000003084	Transcript	1		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	ENSG00000001626	g.chr7:117306983C>T	1884			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=CFTR_HUMAN&rb=1210&re=1443&var=R1422W	getma.org/pdb.php?prot=CFTR_HUMAN&from=1210&to=1443&var=R1422W	getma.org/?cm=var&var=hg19,7,117306983,C,T&fts=all	R1422W	--	--	1																																		CFTR_uc011knq.1_Missense_Mutation_p.R828W	1,1	1		benign(0.018)	p.R1422W	NM_000492	NP_000483		tolerated(0.11)	0,1	CFTR_HUMAN	CFTR	HGNC	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		Q9UML7_HUMAN,Q9UJ19_HUMAN,Q99989_HUMAN,Q6KEJ7_HUMAN,Q6KEJ4_HUMAN,Q6KEJ1_HUMAN,Q6KEI8_HUMAN,Q6KEI7_HUMAN,Q6KEI2_HUMAN,Q6KEH8_HUMAN,Q6KEH6_HUMAN,Q6KEH3_HUMAN,Q6KEG9_HUMAN,Q6KEG6_HUMAN,Q6KEG3_HUMAN,Q6KEF9_HUMAN,Q6KEF5_HUMAN,Q6KEE7_HUMAN,Q6KEE3_HUMAN,Q6KED8_HUMAN,Q6KED3_HUMAN,Q6KEC8_HUMAN,Q6KEC3_HUMAN,Q6KEB8_HUMAN,Q6KEB2_HUMAN,Q6KEA5_HUMAN,Q6KEA0_HUMAN,Q6KE95_HUMAN,Q5I6N7_HUMAN,Q5I6N6_HUMAN,Q5I6N5_HUMAN,Q5I6N4_HUMAN,Q5I6F9_HUMAN,C9J6L5_HUMAN,A4L9V0_HUMAN		27	4396	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		UPI000013C4D4	1422			Cytoplasmic (Potential).|ABC transporter 2.		SNV	CFTR,missense_variant,p.Arg1422Trp,ENST00000003084,NM_000492.3;CFTR,missense_variant,p.Arg1361Trp,ENST00000454343,;CFTR,missense_variant,p.Arg1392Trp,ENST00000426809,;CFTR,intron_variant,,ENST00000600166,;	uc003vjd.2	c.4264C>T	4396/6128	2	2			c.4264C>T						7	SNP	c.(4264-4266)CGG>TGG	30	30			central_nervous_system(2)|skin(2)|ovary(1)	5	Broad	cystic fibrosis transmembrane conductance		Bumetanide(DB00887)|Glibenclamide(DB01016)	117306983	Cystic_Fibrosis	0.552	ENSG00000001626	3232	g.chr7:117306983C>T	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding							41.136937	KEEP	8	9	-1	28	30	8	9	-1	45.722071	28	30	0.236111	1	0	0	0	0	1	0	0	0	--	--		0	T			CFTR_uc011knq.1_Missense_Mutation_p.R828W	129	GBM-12-5295-TP	p.R1422W	C	GAACAAAGTGCGGCAGTACGA	NM_000492	NP_000483	117306983	P13569	CFTR_HUMAN	0	STAD - Stomach adenocarcinoma(10;0.000534)		27	4396	+	T	T	Lung NSC(10;0.00148)|all_lung(10;0.00171)		Missense_Mutation	1422			Cytoplasmic (Potential).|ABC transporter 2.			
CFTR	0	broad.mit.edu	GRCh37	7	117180363	117180363	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs75053309		TCGA-19-2629-01	TCGA-19-2629-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000003084.6:c.1079C>G	p.Thr360Arg	p.T360R	ENST00000003084	NM_000492.3	360	aCa/aGa	0			1			G	T/R	uc003vjd.2	protein_coding	YES	CCDS5773.1			1079/4443						not_provided,pathogenic			central_nervous_system(2)|skin(2)|ovary(1)	5	c.(1078-1080)ACA>AGA			Gene3D:2hydA01,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF19,Superfamily_domains:SSF90123,TIGRFAM_domain:TIGR01271	cystic fibrosis transmembrane conductance	Bumetanide(DB00887)|Glibenclamide(DB01016)			ENSP00000003084		27-Aug									rs75053309,COSM3411519	27-Aug	.	Cystic_Fibrosis	ENST00000003084	Transcript	1		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	ENSG00000001626	g.chr7:117180363C>G	1884			MODERATE		0.6	neutral	getma.org/?cm=msa&ty=f&p=CFTR_HUMAN&rb=81&re=365&var=T360R	NA	getma.org/?cm=var&var=hg19,7,117180363,C,G&fts=all	T360R	--	--	1																																		CFTR_uc011knq.1_5'UTR	1,1	1	1,537,190,312,007,210	benign(0.008)	p.T360R	NM_000492	NP_000483		deleterious(0.01)	0,1	CFTR_HUMAN	CFTR	HGNC	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		Q9UML7_HUMAN,Q9UJ19_HUMAN,Q99989_HUMAN,Q6KEJ7_HUMAN,Q6KEJ4_HUMAN,Q6KEJ1_HUMAN,Q6KEI8_HUMAN,Q6KEI7_HUMAN,Q6KEI2_HUMAN,Q6KEH8_HUMAN,Q6KEH6_HUMAN,Q6KEH3_HUMAN,Q6KEG9_HUMAN,Q6KEG6_HUMAN,Q6KEG3_HUMAN,Q6KEF9_HUMAN,Q6KEF5_HUMAN,Q6KEE7_HUMAN,Q6KEE3_HUMAN,Q6KED8_HUMAN,Q6KED3_HUMAN,Q6KEC8_HUMAN,Q6KEC3_HUMAN,Q6KEB8_HUMAN,Q6KEB2_HUMAN,Q6KEA5_HUMAN,Q6KEA0_HUMAN,Q6KE95_HUMAN,Q5I6N7_HUMAN,Q5I6N6_HUMAN,Q5I6N5_HUMAN,Q5I6N4_HUMAN,Q5I6F9_HUMAN,C9J6L5_HUMAN,A4L9V0_HUMAN		8	1211	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		UPI000013C4D4	360		QT -> KK (in CF).	Cytoplasmic (Potential).|ABC transmembrane type-1 1.		SNV	CFTR,missense_variant,p.Thr360Arg,ENST00000003084,NM_000492.3;CFTR,missense_variant,p.Thr360Arg,ENST00000454343,;CFTR,missense_variant,p.Thr330Arg,ENST00000426809,;	uc003vjd.2	c.1079C>G	1211/6128	3	3			c.1079C>G						7	SNP	c.(1078-1080)ACA>AGA	2	2			central_nervous_system(2)|skin(2)|ovary(1)	5	Broad	cystic fibrosis transmembrane conductance		Bumetanide(DB00887)|Glibenclamide(DB01016)	117180363	Cystic_Fibrosis	0.388	ENSG00000001626	3232	g.chr7:117180363C>G	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding							84.794755	KEEP	23	11	-1	75	80	23	11	-1	100.05392	75	80	0.189349	1	0	0	0	0	1	0	0	0	--	--		0	G			CFTR_uc011knq.1_5'UTR	166	GBM-19-2629-TP	p.T360R	C	GCTGTACAAACATGGTATGAC	NM_000492	NP_000483	117180363	P13569	CFTR_HUMAN	0	STAD - Stomach adenocarcinoma(10;0.000534)		8	1211	+	G	G	Lung NSC(10;0.00148)|all_lung(10;0.00171)		Missense_Mutation	360		QT -> KK (in CF).	Cytoplasmic (Potential).|ABC transmembrane type-1 1.			
CGB7	0	broad.mit.edu	GRCh37	19	49557640	49557640	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000597853.1:c.406C>T	p.Gln136Ter	p.Q136*	ENST00000597853		136	Cag/Tag	0			1			A	Q/*	uc002pmd.2	protein_coding	YES	CCDS33071.1			406/498										0	c.(406-408)CAG>TAG			hmmpanther:PTHR11515,hmmpanther:PTHR11515:SF12	chorionic gonadotropin, beta polypeptide 7	Choriogonadotropin alfa(DB00097)			ENSP00000470813		5-May									COSM3404439	5-May	.		ENST00000597853	Transcript			apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	ENSG00000196337	g.chr19:49557640G>A	16451			HIGH								--	--	1																																		CGB_uc010yad.1_Intron|CGB8_uc002pmc.2_Intron|CGB7_uc002pme.2_Nonsense_Mutation_p.Q136*	1	1			p.Q136*	NM_033142	NP_149133			1	CGHB_HUMAN	CGB7	HGNC	P01233	CGHB_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	J3KP00_HUMAN		3	771	-		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	UPI00001619C1	136					SNV	CGB7,stop_gained,p.Gln136Ter,ENST00000597853,;CGB7,stop_gained,p.Gln134Ter,ENST00000356213,;CGB7,stop_gained,p.Gln136Ter,ENST00000596965,;CGB7,stop_gained,p.Gln136Ter,ENST00000377280,NM_033142.1;NTF4,downstream_gene_variant,,ENST00000451356,;CGB7,downstream_gene_variant,,ENST00000593309,;CGB7,downstream_gene_variant,,ENST00000598442,;NTF4,downstream_gene_variant,,ENST00000599795,;CTB-60B18.15,upstream_gene_variant,,ENST00000596318,;	uc002pmd.2	c.406C>T	3278/3386	5	2			c.406C>T						19	SNP	c.(406-408)CAG>TAG	33	33				0	Broad	chorionic gonadotropin, beta polypeptide 7		Choriogonadotropin alfa(DB00097)	49557640		0.647	ENSG00000196337	3238	g.chr19:49557640G>A	apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity							72.68422	KEEP	18	21	-1	32	28	18	21	-1	72.934683	32	28	0.428571	1	0	0	0	0	0	1	0	0	--	--		0	A			CGB_uc010yad.1_Intron|CGB8_uc002pmc.2_Intron|CGB7_uc002pme.2_Nonsense_Mutation_p.Q136*	159	GBM-19-1390-TP	p.Q136*	G	GAGGAGGCCTGGAAGCGGGGG	NM_033142	NP_149133	49557640	P01233	CGHB_HUMAN	0		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	3	771	-	A	A		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	Nonsense_Mutation	136						
CGB8	94115		GRCh37	19	49551985	49551985	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000448456.3:c.12C>T	p.Phe4=	p.F4=	ENST00000448456	NM_033183.2	4	ttC/ttT	0																																																																																																																																																																																																																																												
CGN	0	broad.mit.edu	GRCh37	1	151491244	151491244	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-32-1991-01	TCGA-32-1991-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271636.7:c.249G>T	p.Lys83Asn	p.K83N	ENST00000271636	NM_020770.2	83	aaG/aaT	0			1			T	K/N	uc009wmw.2	protein_coding	YES	CCDS999.1			249/3612									ovary(2)|pancreas(1)	3	c.(247-249)AAG>AAT				cingulin				ENSP00000271636		21-Feb									COSM3399696	21-Feb	.		ENST00000271636	Transcript				myosin complex|tight junction	actin binding|motor activity	ENSG00000143375	g.chr1:151491244G>T	17429			MODERATE		1.645	low	getma.org/?cm=msa&ty=f&p=CING_HUMAN&rb=1&re=200&var=K77N	NA	getma.org/?cm=var&var=hg19,1,151491244,G,T&fts=all	K77N	--	--	1																																			1	1		probably_damaging(0.977)	p.K83N	NM_020770	NP_065821		tolerated(0.19)	1	CING_HUMAN	CGN	HGNC	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		A6PVU7_HUMAN,A2A3M4_HUMAN		2	393	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UPI0000161C1E	77			Head.		SNV	CGN,missense_variant,p.Lys83Asn,ENST00000271636,NM_020770.2;CGN,missense_variant,p.Lys83Asn,ENST00000427934,;CGN,missense_variant,p.Lys83Asn,ENST00000502442,;CGN,missense_variant,p.Lys83Asn,ENST00000505188,;CGN,upstream_gene_variant,,ENST00000416743,;	uc009wmw.2	c.249G>T	382/5091	2	2			c.249G>T						1	SNP	c.(247-249)AAG>AAT	25	25			ovary(2)|pancreas(1)	3	Broad	cingulin			151491244		0.592	ENSG00000143375	3241	g.chr1:151491244G>T		myosin complex|tight junction	actin binding|motor activity							126.658255	KEEP	26	24	0.52	35	58	26	24	0.52	129.074995	35	58	0.352	1	0	0	0	0	1	0	0	0	--	--		0	T				234	GBM-32-1991-TP	p.K83N	G	TCCAAATCAAGGGGGCCAATG	NM_020770	NP_065821	151491244	Q9P2M7	CING_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.181)		2	393	+	T	T	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		Missense_Mutation	77			Head.			
CGN	57530		GRCh37	1	151491406	151491406	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000271636.7:c.411C>T	p.Ser137=	p.S137=	ENST00000271636	NM_020770.2	137	tcC/tcT	0																																																																																																																																																																																																																																												
CHAF1A	10036	broad.mit.edu	GRCh37	19	4433232	4433232	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01	TCGA-06-0173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301280.5:c.2369C>T	p.Ala790Val	p.A790V	ENST00000301280	NM_005483.2	790	gCc/gTc	0			1			T	A/V	uc002mal.2	protein_coding	YES	CCDS32875.1			2369/2871									ovary(1)|skin(1)	2	c.(2368-2370)GCC>GTC		Chromatin_Structure	Pfam_domain:PF15539,hmmpanther:PTHR15272,hmmpanther:PTHR15272:SF0	chromatin assembly factor 1, subunit A (p150)				ENSP00000301280		13/15									COSM3404353	13/15	.		ENST00000301280	Transcript			cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	ENSG00000167670	g.chr19:4433232C>T	1910			MODERATE		-1.04	neutral	getma.org/?cm=msa&ty=f&p=CAF1A_HUMAN&rb=636&re=835&var=A790V	NA	getma.org/?cm=var&var=hg19,19,4433232,C,T&fts=all	A790V	--	--	1																																			1	1		benign(0.014)	p.A790V	NM_005483	NP_005474		tolerated(0.28)	1	CAF1A_HUMAN	CHAF1A	HGNC	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)			13	2469	+		Hepatocellular(1079;0.137)	UPI00002030F8	790			Binds to p60.		SNV	CHAF1A,missense_variant,p.Ala790Val,ENST00000301280,NM_005483.2;CHAF1A,downstream_gene_variant,,ENST00000587739,;CTB-50L17.5,upstream_gene_variant,,ENST00000590159,;CHAF1A,non_coding_transcript_exon_variant,,ENST00000587368,;CHAF1A,downstream_gene_variant,,ENST00000585371,;	uc002mal.2	c.2369C>T	2470/3339	1	1			c.2369C>T						19	SNP	c.(2368-2370)GCC>GTC	11	11			ovary(1)|skin(1)	2	Broad	chromatin assembly factor 1, subunit A (p150)	Chromatin_Structure		4433232		0.652	ENSG00000167670	3249	g.chr19:4433232C>T	cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding							-23.896499	KEEP	1	4	-1	67	88	1	4	-1	6.890037	67	88	0.03125	1	0	0	0	0	1	0	0	0	--	--		0	T				36	GBM-06-0173-TP	p.A790V	C	AGCGAGGATGCCGCCATCCCC	NM_005483	NP_005474	4433232	Q13111	CAF1A_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	13	2469	+	T	T		Hepatocellular(1079;0.137)	Missense_Mutation	790			Binds to p60.			
CHAMP1	283489		GRCh37	13	115090500	115090500	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000361283.1:c.1183C>G	p.Pro395Ala	p.P395A	ENST00000361283	NM_032436.2	395	Cca/Gca	0																																																																																																																																																																																																																																												
CHAT	1103	broad.mit.edu	GRCh37	10	50873009	50873009	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0876-01	TCGA-06-0876-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337653.2:c.2164T>C	p.Cys722Arg	p.C722R	ENST00000337653	NM_020549.4	722	Tgc/Cgc	0			1			C	C/R	uc001jhz.2	protein_coding	YES	CCDS7232.1			2164/2247									central_nervous_system(3)	3	c.(2164-2166)TGC>CGC			hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF14,Superfamily_domains:SSF52777	choline acetyltransferase isoform 2	Choline(DB00122)			ENSP00000337103		15/15									COSM2152067,COSM2152068	15/15	.		ENST00000337653	Transcript	1		neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	ENSG00000070748	g.chr10:50873009T>C	1912			MODERATE		2.415	medium	getma.org/?cm=msa&ty=f&p=CLAT_HUMAN&rb=691&re=748&var=C722R	getma.org/pdb.php?prot=CLAT_HUMAN&from=721&to=748&var=C722R	getma.org/?cm=var&var=hg19,10,50873009,T,C&fts=all	C722R	--	--	1																																		CHAT_uc001jhv.1_Missense_Mutation_p.C604R|CHAT_uc001jhx.1_Missense_Mutation_p.C604R|CHAT_uc001jhy.1_Missense_Mutation_p.C604R|CHAT_uc001jia.2_Missense_Mutation_p.C604R|CHAT_uc010qgs.1_Intron	1,1	1		possibly_damaging(0.489)	p.C722R	NM_020549	NP_065574		deleterious(0)	1,1	CLAT_HUMAN	CHAT	HGNC	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	Q6LEN6_HUMAN,Q6LEN5_HUMAN,Q6LDF3_HUMAN		15	2317	+		all_neural(218;0.107)	UPI000013F1B9	722					SNV	CHAT,missense_variant,p.Cys640Arg,ENST00000395562,NM_001142934.1,NM_001142933.1;CHAT,missense_variant,p.Cys722Arg,ENST00000337653,NM_020549.4,NM_001142929.1;CHAT,missense_variant,p.Cys604Arg,ENST00000351556,NM_020985.3;CHAT,missense_variant,p.Cys604Arg,ENST00000339797,NM_020984.3;CHAT,missense_variant,p.Cys604Arg,ENST00000395559,NM_020986.3;CHAT,intron_variant,,ENST00000455728,;CHAT,3_prime_UTR_variant,,ENST00000466590,;	uc001jhz.2	c.2164T>C	2317/2458	4	4			c.2164T>C						10	SNP	c.(2164-2166)TGC>CGC	43	43			central_nervous_system(3)	3	Broad	choline acetyltransferase isoform 2		Choline(DB00122)	50873009		0.502	ENSG00000070748	3251	g.chr10:50873009T>C	neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity							368.204792	KEEP	47	69	-1	33	21	47	69	-1	372.933244	33	21	0.680982	1	0	0	0	0	1	0	0	0	--	--		0	C			CHAT_uc001jhv.1_Missense_Mutation_p.C604R|CHAT_uc001jhx.1_Missense_Mutation_p.C604R|CHAT_uc001jhy.1_Missense_Mutation_p.C604R|CHAT_uc001jia.2_Missense_Mutation_p.C604R|CHAT_uc010qgs.1_Intron	72	GBM-06-0876-TP	p.C722R	T	GAGAGACCTCTGCAGTCTGCT	NM_020549	NP_065574	50873009	P28329	CLAT_HUMAN	0		GBM - Glioblastoma multiforme(2;0.000585)	15	2317	+	C	C		all_neural(218;0.107)	Missense_Mutation	722						
CHAT	0	broad.mit.edu	GRCh37	10	50870733	50870733	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs116097791	by1000genomes	TCGA-32-1982-01	TCGA-32-1982-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337653.2:c.1882C>T	p.Arg628Trp	p.R628W	ENST00000337653	NM_020549.4	628	Cgg/Tgg	0		A:0	1	A:0		T	R/W	uc001jhz.2	protein_coding	YES	CCDS7232.1			1882/2247									central_nervous_system(3)	3	c.(1882-1884)CGG>TGG			Pfam_domain:PF00755,hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF14,Superfamily_domains:SSF52777	choline acetyltransferase isoform 2	Choline(DB00122)	A:0.004		ENSP00000337103	A:0	14/15	8.24E-06							6.06E-05	rs116097791,COSM3397156,COSM3397157	14/15	.		ENST00000337653	Transcript	1	A:0.0008	neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	ENSG00000070748	g.chr10:50870733C>T	1912			MODERATE		2.64	medium	getma.org/?cm=msa&ty=f&p=CLAT_HUMAN&rb=130&re=720&var=R628W	getma.org/pdb.php?prot=CLAT_HUMAN&from=130&to=720&var=R628W	getma.org/?cm=var&var=hg19,10,50870733,C,T&fts=all	R628W	--	--	1																																		CHAT_uc001jhv.1_Missense_Mutation_p.R510W|CHAT_uc001jhx.1_Missense_Mutation_p.R510W|CHAT_uc001jhy.1_Missense_Mutation_p.R510W|CHAT_uc001jia.2_Missense_Mutation_p.R510W|CHAT_uc010qgs.1_Missense_Mutation_p.R510W	0,1,1	1		probably_damaging(0.998)	p.R628W	NM_020549	NP_065574	A:0	deleterious(0)	0,1,1	CLAT_HUMAN	CHAT	HGNC	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	Q6LEN6_HUMAN,Q6LEN5_HUMAN,Q6LDF3_HUMAN		14	2035	+		all_neural(218;0.107)	UPI000013F1B9	628					SNV	CHAT,missense_variant,p.Arg546Trp,ENST00000395562,NM_001142934.1,NM_001142933.1;CHAT,missense_variant,p.Arg628Trp,ENST00000337653,NM_020549.4,NM_001142929.1;CHAT,missense_variant,p.Arg510Trp,ENST00000351556,NM_020985.3;CHAT,missense_variant,p.Arg510Trp,ENST00000339797,NM_020984.3;CHAT,missense_variant,p.Arg510Trp,ENST00000395559,NM_020986.3;CHAT,missense_variant,p.Arg510Trp,ENST00000455728,;CHAT,3_prime_UTR_variant,,ENST00000466590,;	uc001jhz.2	c.1882C>T	2035/2458	1	1			c.1882C>T						10	SNP	c.(1882-1884)CGG>TGG	16	16			central_nervous_system(3)	3	Broad	choline acetyltransferase isoform 2		Choline(DB00122)	50870733		0.572	ENSG00000070748	3251	g.chr10:50870733C>T	neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity							107.888022	KEEP	23	23	-1	30	33	23	23	-1	108.623189	30	33	0.404255	1	0	0	0	0	1	0	0	0	--	--		0	T			CHAT_uc001jhv.1_Missense_Mutation_p.R510W|CHAT_uc001jhx.1_Missense_Mutation_p.R510W|CHAT_uc001jhy.1_Missense_Mutation_p.R510W|CHAT_uc001jia.2_Missense_Mutation_p.R510W|CHAT_uc010qgs.1_Missense_Mutation_p.R510W	232	GBM-32-1982-TP	p.R628W	C	GCTGGCACTGCGGGAGCTGGC	NM_020549	NP_065574	50870733	P28329	CLAT_HUMAN	0		GBM - Glioblastoma multiforme(2;0.000585)	14	2035	+	T	T		all_neural(218;0.107)	Missense_Mutation	628						
CHCHD2	0	broad.mit.edu	GRCh37	7	56170668	56170670	+	inframe_deletion	In_Frame_Del	DEL	GCT	GCT	-			TCGA-28-5209-01	TCGA-28-5209-01	GCT	GCT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395422.3:c.335_337delAGC	p.Gln112del	p.Q112del	ENST00000395422	NM_016139.2	112	cAGCct/cct	0			1			-	QP/P	uc003tsa.2	protein_coding	YES	CCDS5526.1			335-337/456										0	c.(334-339)CAGCCT>CCT			Low_complexity_(Seg):seg,hmmpanther:PTHR13523,hmmpanther:PTHR13523:SF3	coiled-coil-helix-coiled-coil-helix domain				ENSP00000378812		4-Mar	8.24E-06					1.50E-05			rs778812692	4-Mar	.		ENST00000395422	Transcript				mitochondrion		ENSG00000106153	g.chr7:56170668_56170670delGCT	21645			MODERATE								--	--	1																																		PSPH_uc003trj.2_Intron		1			p.Q112del	NM_016139	NP_057223				CHCH2_HUMAN	CHCHD2	HGNC	Q9Y6H1	CHCH2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)				3	416_418	-	Breast(14;0.214)		UPI0000073DC7	112			CHCH.		deletion	CHCHD2,inframe_deletion,p.Gln112del,ENST00000395422,NM_016139.2;snoU13,downstream_gene_variant,,ENST00000458988,;CHCHD2,non_coding_transcript_exon_variant,,ENST00000473095,;	uc003tsa.2	c.335_337delAGC	498-500/901	5	5			c.335_337delAGC						7	DEL	c.(334-339)CAGCCT>CCT	14	14				0	Broad	coiled-coil-helix-coiled-coil-helix domain			56170670		0.488	ENSG00000106153	3254	g.chr7:56170668_56170670delGCT		mitochondrion																					0	1	1	0	1	0	0	0	0	0	--	--		0	-			PSPH_uc003trj.2_Intron	218	GBM-28-5209-TP	p.Q112del	GCT	TAGAGGCAAGGCTGCTGCTGCTG	NM_016139	NP_057223	56170668	Q9Y6H1	CHCH2_HUMAN	0	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		3	416_418	-	-	-	Breast(14;0.214)		In_Frame_Del	112			CHCH.			
CHCHD3	54927	broad.mit.edu	GRCh37	7	132754903	132754903	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C			TCGA-06-0152-01	TCGA-06-0152-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262570.5:c.168A>G		p.X56_splice	ENST00000262570	NM_017812.2	56	tcA/tcG	0			1			C	S	uc003vre.2	protein_coding	YES	CCDS5828.1			168/684										0	c.(166-168)TCA>TCG			Pfam_domain:PF05300,hmmpanther:PTHR21588,hmmpanther:PTHR21588:SF2	coiled-coil-helix-coiled-coil-helix domain				ENSP00000262570		8-Feb									COSM3411600	8-Feb	.		ENST00000262570	Transcript			inner mitochondrial membrane organization|mitochondrial fusion	mitochondrial inner membrane	protein complex scaffold	ENSG00000106554	g.chr7:132754903T>C	21906			LOW								--	--	1																																		CHCHD3_uc010lmi.2_RNA|CHCHD3_uc003vrf.2_Silent_p.S56S|CHCHD3_uc010lmj.2_Intron|CHCHD3_uc011kpn.1_Silent_p.S56S	1	1			p.S56S	NM_017812	NP_060282			1	CHCH3_HUMAN	CHCHD3	HGNC	Q9NX63	CHCH3_HUMAN			A4D1N4_HUMAN		2	304	-			UPI0000044721	56					SNV	CHCHD3,splice_region_variant,p.=,ENST00000262570,NM_017812.2;CHCHD3,splice_region_variant,p.=,ENST00000448878,;CHCHD3,splice_region_variant,p.=,ENST00000542753,;CHCHD3,splice_region_variant,,ENST00000481152,;CHCHD3,intron_variant,,ENST00000476546,;CHCHD3,splice_region_variant,,ENST00000466644,;CHCHD3,splice_region_variant,p.=,ENST00000423635,;CHCHD3,splice_region_variant,p.=,ENST00000457942,;	uc003vre.2	c.168A>G	313/1598	4	4			c.168A>G						7	SNP	c.(166-168)TCA>TCG	48	48				0	Broad	coiled-coil-helix-coiled-coil-helix domain			132754903		0.378	ENSG00000106554	3255	g.chr7:132754903T>C	inner mitochondrial membrane organization|mitochondrial fusion	mitochondrial inner membrane	protein complex scaffold							-19.07258	KEEP	4	0	-1	68	45	4	0	-1	6.90489	68	45	0.028302	1	0	0	0	0	0	0	1	0	--	--		0	C			CHCHD3_uc010lmi.2_RNA|CHCHD3_uc003vrf.2_Silent_p.S56S|CHCHD3_uc010lmj.2_Intron|CHCHD3_uc011kpn.1_Silent_p.S56S	25	GBM-06-0152-TP	p.S56S	T	CAGCAATACCTGAGGCACCAT	NM_017812	NP_060282	132754903	Q9NX63	CHCH3_HUMAN	0			2	304	-	C	C			Silent	56						
CHD1	1105		GRCh37	5	98192335	98192335	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000284049.3:c.4882C>T	p.His1628Tyr	p.H1628Y	ENST00000284049	NM_001270.2	1628	Cat/Tat	0																																																																																																																																																																																																																																												
CHD2	0	broad.mit.edu	GRCh37	15	93567832	93567834	+	inframe_deletion	In_Frame_Del	DEL	CTC	CTC	-			TCGA-19-2619-01	TCGA-19-2619-01	CTC	CTC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394196.4:c.5387_5389delCTC	p.Pro1796del	p.P1796del	ENST00000394196	NM_001271.3	1795	tCTCct/tct	0			1			-	SP/S	uc002bsp.2	protein_coding	YES	CCDS10374.2			5384-5386/5487									ovary(1)|skin(1)	2	c.(5383-5388)TCTCCT>TCT				chromodomain helicase DNA binding protein 2				ENSP00000377747		39/39	8.27E-06					1.50E-05			rs757944116	39/39	.		ENST00000394196	Transcript	1		regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	ENSG00000173575	g.chr15:93567832_93567834delCTC	1917	3		MODERATE								--	--	1																																				1			p.P1796del	NM_001271	NP_001262				CHD2_HUMAN	CHD2	HGNC	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		Q6AI05_HUMAN,Q3YLD6_HUMAN,Q3YLD5_HUMAN,G3V4S8_HUMAN,G3V418_HUMAN		39	5959_5961	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		UPI0000E8A85C	1796					deletion	CHD2,inframe_deletion,p.Pro1796del,ENST00000394196,NM_001271.3;CHD2,downstream_gene_variant,,ENST00000557381,;CHD2,downstream_gene_variant,,ENST00000557759,;	uc002bsp.2	c.5384_5386delCTC	6452-6454/9857	5	5			c.5384_5386delCTC						15	DEL	c.(5383-5388)TCTCCT>TCT	8	8			ovary(1)|skin(1)	2	Broad	chromodomain helicase DNA binding protein 2			93567834		0.468	ENSG00000173575	3263	g.chr15:93567832_93567834delCTC	regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding																				0.4	1	1	0	1	0	0	0	0	0	--	--		0	-				161	GBM-19-2619-TP	p.P1796del	CTC	TCTCAGAAATCTCCTCACGATTC	NM_001271	NP_001262	93567832	O14647	CHD2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		39	5959_5961	+	-	-	Lung NSC(78;0.00976)|all_lung(78;0.016)		In_Frame_Del	1796						
CHD3	0	broad.mit.edu	GRCh37	17	7811263	7811263	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5216-01	TCGA-28-5216-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330494.7:c.5078G>A	p.Arg1693Gln	p.R1693Q	ENST00000330494	NM_001005273.2	1693	cGg/cAg	0			1			A	R/Q	uc002gje.2	protein_coding		CCDS32554.1			5078/6003									breast(1)	1	c.(5077-5079)CGG>CAG			hmmpanther:PTHR10799:SF544,hmmpanther:PTHR10799	chromodomain helicase DNA binding protein 3				ENSP00000332628		34/40									COSM3403345	34/40	.		ENST00000330494	Transcript			chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	ENSG00000170004	g.chr17:7811263G>A	1918			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CHD3_HUMAN&rb=1525&re=1697&var=R1693Q	NA	getma.org/?cm=var&var=hg19,17,7811263,G,A&fts=all	R1693Q	--	--	1																																		CHD3_uc002gjd.2_Missense_Mutation_p.R1752Q|CHD3_uc002gjf.2_Missense_Mutation_p.R1659Q|CHD3_uc002gjh.2_Missense_Mutation_p.R270Q|CHD3_uc002gjj.2_5'Flank	1			benign(0.238)	p.R1693Q	NM_001005273	NP_001005273		tolerated(0.47)	1	CHD3_HUMAN	CHD3	HGNC	Q12873	CHD3_HUMAN			Q2TAZ1_HUMAN		34	5228	+		Prostate(122;0.202)	UPI00001AED64	1693			Required for interaction with PCNT.		SNV	CHD3,missense_variant,p.Arg1752Gln,ENST00000380358,NM_001005271.2;CHD3,missense_variant,p.Arg1693Gln,ENST00000330494,NM_001005273.2;CHD3,missense_variant,p.Arg1659Gln,ENST00000358181,NM_005852.3;CHD3,missense_variant,p.Arg21Gln,ENST00000439235,;CHD3,missense_variant,p.Arg12Gln,ENST00000573936,;CHD3,upstream_gene_variant,,ENST00000449744,;SCARNA21,downstream_gene_variant,,ENST00000517026,;CHD3,3_prime_UTR_variant,,ENST00000470531,;CHD3,non_coding_transcript_exon_variant,,ENST00000572750,;CHD3,upstream_gene_variant,,ENST00000481999,;CHD3,downstream_gene_variant,,ENST00000466233,;CHD3,downstream_gene_variant,,ENST00000473376,;	uc002gje.2	c.5078G>A	5228/7328	2	2			c.5078G>A						17	SNP	c.(5077-5079)CGG>CAG	30	30			breast(1)	1	Broad	chromodomain helicase DNA binding protein 3			7811263		0.567	ENSG00000170004	3264	g.chr17:7811263G>A	chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding							174.877673	KEEP	34	39	-1	58	67	34	39	-1	177.790607	58	67	0.362069	1	0	0	0	0	1	0	0	0	--	--		0	A			CHD3_uc002gjd.2_Missense_Mutation_p.R1752Q|CHD3_uc002gjf.2_Missense_Mutation_p.R1659Q|CHD3_uc002gjh.2_Missense_Mutation_p.R270Q|CHD3_uc002gjj.2_5'Flank	223	GBM-28-5216-TP	p.R1693Q	G	GATGAGCCACGGTCCAATGGG	NM_001005273	NP_001005273	7811263	Q12873	CHD3_HUMAN	0			34	5228	+	A	A		Prostate(122;0.202)	Missense_Mutation	1693			Required for interaction with PCNT.			
CHD4	1108	broad.mit.edu	GRCh37	12	6691851	6691851	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357008.2:c.4300C>T	p.Pro1434Ser	p.P1434S	ENST00000357008	NM_001273.2	1434	Cca/Tca	0			1			A	P/S	uc001qpn.2	protein_coding	YES	CCDS8552.1			4300/5739									central_nervous_system(2)	2	c.(4279-4281)CCA>TCA			Pfam_domain:PF06461,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF554	chromodomain helicase DNA binding protein 4				ENSP00000349508		29/40									COSM2098376,COSM2098378,COSM2098377	29/40	.		ENST00000357008	Transcript			chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	ENSG00000111642	g.chr12:6691851G>A	1919			MODERATE		2.515	medium	getma.org/?cm=msa&ty=f&p=CHD4_HUMAN&rb=1366&re=1523&var=P1434S	NA	getma.org/?cm=var&var=hg19,12,6691851,G,A&fts=all	P1434S	--	--	1																																		CHD4_uc001qpo.2_Missense_Mutation_p.P1434S|CHD4_uc001qpp.2_Missense_Mutation_p.P1459S|uc001qpq.1_Nonsense_Mutation_p.W18*|SCARNA11_uc001qpr.1_5'Flank	1,1,1	1		probably_damaging(0.96)	p.P1427S	NM_001273	NP_001264		deleterious(0)	1,1,1	CHD4_HUMAN	CHD4	HGNC	Q14839	CHD4_HUMAN			F5H6N4_HUMAN		28	4357	-			UPI000013C8EF	1434					SNV	CHD4,missense_variant,p.Pro1462Ser,ENST00000309577,;CHD4,missense_variant,p.Pro1459Ser,ENST00000544484,;CHD4,missense_variant,p.Pro1427Ser,ENST00000544040,;CHD4,missense_variant,p.Pro1434Ser,ENST00000357008,NM_001273.2;SCARNA11,upstream_gene_variant,,ENST00000516089,;RP5-940J5.6,non_coding_transcript_exon_variant,,ENST00000501075,;CHD4,non_coding_transcript_exon_variant,,ENST00000540960,;CHD4,intron_variant,,ENST00000536301,;CHD4,upstream_gene_variant,,ENST00000542717,;	uc001qpn.2	c.4279C>T	4464/6496	2	2			c.4279C>T						12	SNP	c.(4279-4281)CCA>TCA	20	20			central_nervous_system(2)	2	Broad	chromodomain helicase DNA binding protein 4			6691851		0.473	ENSG00000111642	3265	g.chr12:6691851G>A	chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	Colon(32;586 792 4568 16848 45314)			Colon(32;586 792 4568 16848 45314)			-66.754183	KEEP	5	1	-1	165	194	5	1	-1	7.496776	165	194	0.017668	1	0	0	0	0	1	0	0	0	--	--		0	A			CHD4_uc001qpo.2_Missense_Mutation_p.P1434S|CHD4_uc001qpp.2_Missense_Mutation_p.P1459S|uc001qpq.1_Nonsense_Mutation_p.W18*|SCARNA11_uc001qpr.1_5'Flank	58	GBM-06-0644-TP	p.P1427S	G	TCCTGAGGTGGCATACCATAT	NM_001273	NP_001264	6691851	Q14839	CHD4_HUMAN	0			28	4357	-	A	A			Missense_Mutation	1434						
CHD5	26038	broad.mit.edu	GRCh37	1	6189059	6189059	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0210-01	TCGA-06-0210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262450.3:c.3458C>T	p.Ser1153Leu	p.S1153L	ENST00000262450	NM_015557.2	1153	tCg/tTg	0			1			A	S/L	uc001amb.1	protein_coding	YES	CCDS57.1			3458/5865								p.S1153L(1)	central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	c.(3457-3459)TCG>TTG			PROSITE_profiles:PS51194,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF583,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	chromodomain helicase DNA binding protein 5				ENSP00000262450		23/42									COSM2150715	23/42	.		ENST00000262450	Transcript			chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	ENSG00000116254	g.chr1:6189059G>A	16816			MODERATE		3.07	medium	getma.org/?cm=msa&ty=f&p=CHD5_HUMAN&rb=1028&re=1193&var=S1153L	getma.org/pdb.php?prot=CHD5_HUMAN&from=1028&to=1193&var=S1153L	getma.org/?cm=var&var=hg19,1,6189059,G,A&fts=all	S1153L	--	--	1																																		CHD5_uc001alz.1_Missense_Mutation_p.S10L|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	1	1		probably_damaging(0.972)	p.S1153L	NM_015557	NP_056372		deleterious(0)	1	CHD5_HUMAN	CHD5	HGNC	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)			23	3558	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	UPI000006CD03	1153			Helicase C-terminal.		SNV	CHD5,missense_variant,p.Ser1153Leu,ENST00000262450,NM_015557.2;CHD5,missense_variant,p.Ser10Leu,ENST00000378021,;CHD5,missense_variant,p.Ser536Leu,ENST00000462991,;CHD5,3_prime_UTR_variant,,ENST00000377999,;CHD5,intron_variant,,ENST00000496404,;CHD5,upstream_gene_variant,,ENST00000491020,;	uc001amb.1	c.3458C>T	3558/9646	2	2			c.3458C>T						1	SNP	c.(3457-3459)TCG>TTG	18	18		p.S1153L(1)	central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Broad	chromodomain helicase DNA binding protein 5			6189059		0.662	ENSG00000116254	3266	g.chr1:6189059G>A	chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			2304			2304	76.932343	KEEP	22	19	-1	61	58	22	19	-1	85.463592	61	58	0.237037	1	0	0	0	0	1	0	0	0	--	--		0	A			CHD5_uc001alz.1_Missense_Mutation_p.S10L|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	47	GBM-06-0210-TP	p.S1153L	G	CTCCTCCACCGAGGCCCGAGT	NM_015557	NP_056372	6189059	Q8TDI0	CHD5_HUMAN	0		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	23	3558	-	A	A	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	Missense_Mutation	1153			Helicase C-terminal.			
CHD5	0	broad.mit.edu	GRCh37	1	6189033	6189033	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-0789-01	TCGA-14-0789-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262450.3:c.3484G>T	p.Ala1162Ser	p.A1162S	ENST00000262450	NM_015557.2	1162	Gcc/Tcc	0			1			A	A/S	uc001amb.1	protein_coding	YES	CCDS57.1			3484/5865									central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	c.(3484-3486)GCC>TCC			PROSITE_profiles:PS51194,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF583,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	chromodomain helicase DNA binding protein 5				ENSP00000262450		23/42									COSM3400932	23/42	.		ENST00000262450	Transcript			chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	ENSG00000116254	g.chr1:6189033C>A	16816			MODERATE		1.675	low	getma.org/?cm=msa&ty=f&p=CHD5_HUMAN&rb=1028&re=1193&var=A1162S	getma.org/pdb.php?prot=CHD5_HUMAN&from=1028&to=1193&var=A1162S	getma.org/?cm=var&var=hg19,1,6189033,C,A&fts=all	A1162S	--	--	1																																		CHD5_uc001alz.1_Missense_Mutation_p.A19S|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	1	1		probably_damaging(0.985)	p.A1162S	NM_015557	NP_056372		deleterious(0.02)	1	CHD5_HUMAN	CHD5	HGNC	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)			23	3584	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	UPI000006CD03	1162			Helicase C-terminal.		SNV	CHD5,missense_variant,p.Ala1162Ser,ENST00000262450,NM_015557.2;CHD5,missense_variant,p.Ala19Ser,ENST00000378021,;CHD5,missense_variant,p.Ala545Ser,ENST00000462991,;CHD5,3_prime_UTR_variant,,ENST00000377999,;CHD5,intron_variant,,ENST00000496404,;CHD5,upstream_gene_variant,,ENST00000491020,;	uc001amb.1	c.3484G>T	3584/9646	2	2			c.3484G>T						1	SNP	c.(3484-3486)GCC>TCC	43	43			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Broad	chromodomain helicase DNA binding protein 5			6189033		0.642	ENSG00000116254	3266	g.chr1:6189033C>A	chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			2304			2304	67.645717	KEEP	12	19	0.612903226	46	37	12	19	0.612903226	72.650799	46	37	0.269231	1	0	0	0	0	1	0	0	0	--	--		0	A			CHD5_uc001alz.1_Missense_Mutation_p.A19S|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	136	GBM-14-0789-TP	p.A1162S	C	TTGCGCTTGGCCACCTGCGTG	NM_015557	NP_056372	6189033	Q8TDI0	CHD5_HUMAN	0		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	23	3584	-	A	A	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	Missense_Mutation	1162			Helicase C-terminal.			
CHD5	0	broad.mit.edu	GRCh37	1	6181182	6181182	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01	TCGA-19-4068-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262450.3:c.4895C>T	p.Pro1632Leu	p.P1632L	ENST00000262450	NM_015557.2	1632	cCg/cTg	0		A:0	1	A:0.0014		A	P/L	uc001amb.1	protein_coding	YES	CCDS57.1			4895/5865									central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	c.(4894-4896)CCG>CTG			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF583	chromodomain helicase DNA binding protein 5		A:0		ENSP00000262450	A:0.001	33/42	8.24E-06		9.34E-05						rs201640978,COSM2156475	33/42	.		ENST00000262450	Transcript		A:0.0004	chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	ENSG00000116254	g.chr1:6181182G>A	16816			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=CHD5_HUMAN&rb=1533&re=1693&var=P1632L	NA	getma.org/?cm=var&var=hg19,1,6181182,G,A&fts=all	P1632L	--	--	1																																		CHD5_uc001alz.1_Missense_Mutation_p.P489L|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA	0,1	1		benign(0.001)	p.P1632L	NM_015557	NP_056372	A:0	deleterious_low_confidence(0.04)	0,1	CHD5_HUMAN	CHD5	HGNC	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)			33	4995	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	UPI000006CD03	1632					SNV	CHD5,missense_variant,p.Pro1632Leu,ENST00000262450,NM_015557.2;CHD5,missense_variant,p.Pro489Leu,ENST00000378021,;CHD5,missense_variant,p.Arg1205Trp,ENST00000496404,;CHD5,missense_variant,p.Pro1015Leu,ENST00000462991,;CHD5,3_prime_UTR_variant,,ENST00000377999,;CHD5,downstream_gene_variant,,ENST00000491020,;	uc001amb.1	c.4895C>T	4995/9646	2	2			c.4895C>T						1	SNP	c.(4894-4896)CCG>CTG	18	18			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Broad	chromodomain helicase DNA binding protein 5			6181182		0.652	ENSG00000116254	3266	g.chr1:6181182G>A	chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			2304			2304	39.182045	KEEP	6	11	-1	7	6	6	11	-1	39.344609	7	6	0.583333	1	0	0	0	0	1	0	0	0	--	--		0	A			CHD5_uc001alz.1_Missense_Mutation_p.P489L|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA	168	GBM-19-4068-TP	p.P1632L	G	CAGCTGCTCCGGGGAGGGCGG	NM_015557	NP_056372	6181182	Q8TDI0	CHD5_HUMAN	0		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	33	4995	-	A	A	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	Missense_Mutation	1632						
CHD5	0	broad.mit.edu	GRCh37	1	6172293	6172293	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-27-2519-01	TCGA-27-2519-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262450.3:c.5047A>C	p.Asn1683His	p.N1683H	ENST00000262450	NM_015557.2	1683	Aat/Cat	0			1			G	N/H	uc001amb.1	protein_coding	YES	CCDS57.1			5047/5865									central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	c.(5047-5049)AAT>CAT			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF583	chromodomain helicase DNA binding protein 5				ENSP00000262450		35/42									COSM3400927	35/42	.		ENST00000262450	Transcript			chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	ENSG00000116254	g.chr1:6172293T>G	16816			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=CHD5_HUMAN&rb=1533&re=1693&var=N1683H	NA	getma.org/?cm=var&var=hg19,1,6172293,T,G&fts=all	N1683H	--	--	1																																		CHD5_uc001alz.1_Missense_Mutation_p.N540H|CHD5_uc001ama.1_RNA	1	1		possibly_damaging(0.477)	p.N1683H	NM_015557	NP_056372		tolerated(0.12)	1	CHD5_HUMAN	CHD5	HGNC	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)			35	5147	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	UPI000006CD03	1683					SNV	CHD5,missense_variant,p.Asn1683His,ENST00000262450,NM_015557.2;CHD5,missense_variant,p.Asn540His,ENST00000378021,;CHD5,3_prime_UTR_variant,,ENST00000496404,;CHD5,3_prime_UTR_variant,,ENST00000462991,;CHD5,3_prime_UTR_variant,,ENST00000377999,;	uc001amb.1	c.5047A>C	5147/9646	3	3			c.5047A>C						1	SNP	c.(5047-5049)AAT>CAT	7	7			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Broad	chromodomain helicase DNA binding protein 5			6172293		0.433	ENSG00000116254	3266	g.chr1:6172293T>G	chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			2304			2304	-83.776323	KEEP	2	2	-1	175	189	2	2	-1	8.186131	175	189	0.011869	1	0	0	0	0	1	0	0	0	--	--		0	G			CHD5_uc001alz.1_Missense_Mutation_p.N540H|CHD5_uc001ama.1_RNA	199	GBM-27-2519-TP	p.N1683H	T	TTGTCACCATTTTGCTGTGTT	NM_015557	NP_056372	6172293	Q8TDI0	CHD5_HUMAN	0		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	35	5147	-	G	G	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	Missense_Mutation	1683						
CHD5	0	broad.mit.edu	GRCh37	1	6206730	6206730	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-2495-01	TCGA-32-2495-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262450.3:c.1585C>G	p.Leu529Val	p.L529V	ENST00000262450	NM_015557.2	529	Cta/Gta	0			1			C	L/V	uc001amb.1	protein_coding	YES	CCDS57.1			1585/5865									central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	c.(1585-1587)CTA>GTA			PROSITE_profiles:PS50013,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF583,Pfam_domain:PF00385,Gene3D:2.40.50.40,SMART_domains:SM00298,Superfamily_domains:SSF54160	chromodomain helicase DNA binding protein 5				ENSP00000262450		Oct-42									COSM3400933	Oct-42	.		ENST00000262450	Transcript			chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	ENSG00000116254	g.chr1:6206730G>C	16816			MODERATE		2.36	medium	getma.org/?cm=msa&ty=f&p=CHD5_HUMAN&rb=499&re=538&var=L529V	NA	getma.org/?cm=var&var=hg19,1,6206730,G,C&fts=all	L529V	--	--	1																																		CHD5_uc001ama.1_5'Flank|CHD5_uc001amc.1_RNA	1	1		possibly_damaging(0.854)	p.L529V	NM_015557	NP_056372		tolerated(0.08)	1	CHD5_HUMAN	CHD5	HGNC	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)			10	1685	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	UPI000006CD03	529			Chromo 1.		SNV	CHD5,missense_variant,p.Leu529Val,ENST00000262450,NM_015557.2;CHD5,5_prime_UTR_variant,,ENST00000378021,;CHD5,missense_variant,p.Leu529Val,ENST00000496404,;CHD5,upstream_gene_variant,,ENST00000462991,;	uc001amb.1	c.1585C>G	1685/9646	3	3			c.1585C>G						1	SNP	c.(1585-1587)CTA>GTA	9	9			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Broad	chromodomain helicase DNA binding protein 5			6206730		0.647	ENSG00000116254	3266	g.chr1:6206730G>C	chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			2304			2304	-1.111269	KEEP	3	0	-1	18	27	3	0	-1	6.581897	18	27	0.073171	1	0	0	0	0	1	0	0	0	--	--		0	C			CHD5_uc001ama.1_5'Flank|CHD5_uc001amc.1_RNA	237	GBM-32-2495-TP	p.L529V	G	CTCACCTGTAGCTCCTTCACC	NM_015557	NP_056372	6206730	Q8TDI0	CHD5_HUMAN	0		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	10	1685	-	C	C	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	Missense_Mutation	529			Chromo 1.			
CHD5	0	broad.mit.edu	GRCh37	1	6171855	6171855	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-32-4213-01	TCGA-32-4213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262450.3:c.5229G>A	p.Trp1743Ter	p.W1743*	ENST00000262450	NM_015557.2	1743	tgG/tgA	0			1			T	W/*	uc001amb.1	protein_coding	YES	CCDS57.1			5229/5865									central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	c.(5227-5229)TGG>TGA			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF583,Pfam_domain:PF08074	chromodomain helicase DNA binding protein 5				ENSP00000262450		36/42									COSM3400926	36/42	.		ENST00000262450	Transcript			chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	ENSG00000116254	g.chr1:6171855C>T	16816			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,6171855,C,T&fts=all	W1743*	--	--	1																																		CHD5_uc001alz.1_Nonsense_Mutation_p.W600*|CHD5_uc001ama.1_RNA	1	1			p.W1743*	NM_015557	NP_056372			1	CHD5_HUMAN	CHD5	HGNC	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)			36	5329	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	UPI000006CD03	1743					SNV	CHD5,stop_gained,p.Trp1743Ter,ENST00000262450,NM_015557.2;CHD5,stop_gained,p.Trp600Ter,ENST00000378021,;CHD5,3_prime_UTR_variant,,ENST00000496404,;CHD5,3_prime_UTR_variant,,ENST00000462991,;CHD5,3_prime_UTR_variant,,ENST00000377999,;	uc001amb.1	c.5229G>A	5329/9646	5	2			c.5229G>A						1	SNP	c.(5227-5229)TGG>TGA	32	32			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Broad	chromodomain helicase DNA binding protein 5			6171855		0.577	ENSG00000116254	3266	g.chr1:6171855C>T	chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			2304			2304	-7.531845	KEEP	3	0	-1	43	46	3	0	-1	6.755226	43	46	0.046154	1	0	0	0	0	0	1	0	0	--	--		0	T			CHD5_uc001alz.1_Nonsense_Mutation_p.W600*|CHD5_uc001ama.1_RNA	247	GBM-32-4213-TP	p.W1743*	C	CCGCCAGCAGCCAGTAGTCAT	NM_015557	NP_056372	6171855	Q8TDI0	CHD5_HUMAN	0		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	36	5329	-	T	T	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	Nonsense_Mutation	1743						
CHD5	0	broad.mit.edu	GRCh37	1	6184051	6184051	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-76-4928-01	TCGA-76-4928-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262450.3:c.4656C>G	p.Pro1552=	p.P1552=	ENST00000262450	NM_015557.2	1552	ccC/ccG	0			1			C	P	uc001amb.1	protein_coding	YES	CCDS57.1			4656/5865									central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	c.(4654-4656)CCC>CCG			Low_complexity_(Seg):seg,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF583	chromodomain helicase DNA binding protein 5				ENSP00000262450		31/42									COSM3400928	31/42	.		ENST00000262450	Transcript			chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	ENSG00000116254	g.chr1:6184051G>C	16816			LOW								--	--	1																																		CHD5_uc001alz.1_Silent_p.P409P|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	1	1			p.P1552P	NM_015557	NP_056372			1	CHD5_HUMAN	CHD5	HGNC	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)			31	4756	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	UPI000006CD03	1552					SNV	CHD5,synonymous_variant,p.=,ENST00000262450,NM_015557.2;CHD5,synonymous_variant,p.=,ENST00000378021,;CHD5,synonymous_variant,p.=,ENST00000462991,;CHD5,3_prime_UTR_variant,,ENST00000377999,;CHD5,intron_variant,,ENST00000496404,;CHD5,downstream_gene_variant,,ENST00000491020,;	uc001amb.1	c.4656C>G	4756/9646	3	3			c.4656C>G						1	SNP	c.(4654-4656)CCC>CCG	64	64			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Broad	chromodomain helicase DNA binding protein 5			6184051		0.677	ENSG00000116254	3266	g.chr1:6184051G>C	chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			2304			2304	7.517881	KEEP	1	4	-1	8	7	1	4	-1	8.38192	8	7	0.230769	1	0	0	0	0	0	0	1	0	--	--		0	C			CHD5_uc001alz.1_Silent_p.P409P|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	268	GBM-76-4928-TP	p.P1552P	G	CAGGGCTGGCGGGCACTGGTG	NM_015557	NP_056372	6184051	Q8TDI0	CHD5_HUMAN	0		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	31	4756	-	C	C	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	Silent	1552						
CHD5	26038		GRCh37	1	6195434	6195434	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000262450.3:c.2726C>T	p.Ala909Val	p.A909V	ENST00000262450	NM_015557.2	909	gCt/gTt	0																																																																																																																																																																																																																																												
CHD5	26038		GRCh37	1	6215692	6215692	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000262450.3:c.473T>C	p.Leu158Pro	p.L158P	ENST00000262450	NM_015557.2	158	cTg/cCg	0																																																																																																																																																																																																																																												
CHD5	26038		GRCh37	1	6209438	6209438	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000262450.3:c.1029G>A	p.Gln343=	p.Q343=	ENST00000262450	NM_015557.2	343	caG/caA	0																																																																																																																																																																																																																																												
CHD6	84181	broad.mit.edu	GRCh37	20	40045338	40045338	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01	TCGA-06-0241-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373233.3:c.6376C>T	p.Pro2126Ser	p.P2126S	ENST00000373233	NM_032221.4	2126	Ccc/Tcc	0			1			A	P/S	uc002xka.1	protein_coding	YES	CCDS13317.1			6376/8148									ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14	c.(6376-6378)CCC>TCC				chromodomain helicase DNA binding protein 6				ENSP00000362330		33/37									COSM3405081	33/37	.		ENST00000373233	Transcript			chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	ENSG00000124177	g.chr20:40045338G>A	19057			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=CHD6_HUMAN&rb=2098&re=2297&var=P2126S	NA	getma.org/?cm=var&var=hg19,20,40045338,G,A&fts=all	P2126S	--	--	1																																		CHD6_uc002xjz.1_5'Flank	1	1		benign(0.002)	p.P2126S	NM_032221	NP_115597		tolerated(0.14)	1	CHD6_HUMAN	CHD6	HGNC	Q8TD26	CHD6_HUMAN					33	6554	-		Myeloproliferative disorder(115;0.00425)	UPI0000168656	2126					SNV	CHD6,missense_variant,p.Pro2126Ser,ENST00000373233,NM_032221.4;CHD6,upstream_gene_variant,,ENST00000480022,;	uc002xka.1	c.6376C>T	6554/10818	2	2			c.6376C>T						20	SNP	c.(6376-6378)CCC>TCC	48	48			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14	Broad	chromodomain helicase DNA binding protein 6			40045338		0.572	ENSG00000124177	3267	g.chr20:40045338G>A	chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding							-20.80457	KEEP	2	2	-1	56	63	2	2	-1	6.565992	56	63	0.034483	1	0	0	0	0	1	0	0	0	--	--		0	A			CHD6_uc002xjz.1_5'Flank	57	GBM-06-0241-TP	p.P2126S	G	ACCGGGGTGGGCAGTGTGCCT	NM_032221	NP_115597	40045338	Q8TD26	CHD6_HUMAN	0			33	6554	-	A	A		Myeloproliferative disorder(115;0.00425)	Missense_Mutation	2126						
CHD6	0	broad.mit.edu	GRCh37	20	40043955	40043955	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-12-0692-01	TCGA-12-0692-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373233.3:c.6810A>G	p.Gly2270=	p.G2270=	ENST00000373233	NM_032221.4	2270	ggA/ggG	0			1			C	G	uc002xka.1	protein_coding	YES	CCDS13317.1			6810/8148									ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14	c.(6808-6810)GGA>GGG				chromodomain helicase DNA binding protein 6				ENSP00000362330		34/37									COSM3405080	34/37	.		ENST00000373233	Transcript			chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	ENSG00000124177	g.chr20:40043955T>C	19057			LOW								--	--	1																																		CHD6_uc002xjz.1_5'Flank	1	1			p.G2270G	NM_032221	NP_115597			1	CHD6_HUMAN	CHD6	HGNC	Q8TD26	CHD6_HUMAN					34	6988	-		Myeloproliferative disorder(115;0.00425)	UPI0000168656	2270					SNV	CHD6,synonymous_variant,p.=,ENST00000373233,NM_032221.4;CHD6,upstream_gene_variant,,ENST00000480022,;	uc002xka.1	c.6810A>G	6988/10818	4	4			c.6810A>G						20	SNP	c.(6808-6810)GGA>GGG	45	45			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14	Broad	chromodomain helicase DNA binding protein 6			40043955		0.537	ENSG00000124177	3267	g.chr20:40043955T>C	chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding							0.982321	KEEP	3	3	-1	55	44	3	3	-1	17.145216	55	44	0.070588	1	0	0	0	0	0	0	1	0	--	--		0	C			CHD6_uc002xjz.1_5'Flank	122	GBM-12-0692-TP	p.G2270G	T	TGACAATCTGTCCAGTCACAG	NM_032221	NP_115597	40043955	Q8TD26	CHD6_HUMAN	0			34	6988	-	C	C		Myeloproliferative disorder(115;0.00425)	Silent	2270						
CHD6	0	broad.mit.edu	GRCh37	20	40049780	40049780	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1456-01	TCGA-14-1456-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373233.3:c.5495G>A	p.Cys1832Tyr	p.C1832Y	ENST00000373233	NM_032221.4	1832	tGt/tAt	0			1			T	C/Y	uc002xka.1	protein_coding	YES	CCDS13317.1			5495/8148									ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14	c.(5494-5496)TGT>TAT				chromodomain helicase DNA binding protein 6				ENSP00000362330		31/37									COSM2155611	31/37	.		ENST00000373233	Transcript			chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	ENSG00000124177	g.chr20:40049780C>T	19057			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=CHD6_HUMAN&rb=1698&re=1897&var=C1832Y	NA	getma.org/?cm=var&var=hg19,20,40049780,C,T&fts=all	C1832Y	--	--	1																																			1	1		benign(0.001)	p.C1832Y	NM_032221	NP_115597		tolerated_low_confidence(1)	1	CHD6_HUMAN	CHD6	HGNC	Q8TD26	CHD6_HUMAN					31	5673	-		Myeloproliferative disorder(115;0.00425)	UPI0000168656	1832					SNV	CHD6,missense_variant,p.Cys1832Tyr,ENST00000373233,NM_032221.4;	uc002xka.1	c.5495G>A	5673/10818	2	2			c.5495G>A						20	SNP	c.(5494-5496)TGT>TAT	41	41			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14	Broad	chromodomain helicase DNA binding protein 6			40049780		0.383	ENSG00000124177	3267	g.chr20:40049780C>T	chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding							382.040195	KEEP	73	87	-1	162	140	73	87	-1	390.288954	162	140	0.346734	1	0	0	0	0	1	0	0	0	--	--		0	T				146	GBM-14-1456-TP	p.C1832Y	C	TTTGGAGTCACAGACACTAAG	NM_032221	NP_115597	40049780	Q8TD26	CHD6_HUMAN	0			31	5673	-	T	T		Myeloproliferative disorder(115;0.00425)	Missense_Mutation	1832						
CHD6	0	broad.mit.edu	GRCh37	20	40065924	40065924	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-76-4928-01	TCGA-76-4928-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373233.3:c.4058A>C	p.Gln1353Pro	p.Q1353P	ENST00000373233	NM_032221.4	1353	cAg/cCg	0			1			G	Q/P	uc002xka.1	protein_coding	YES	CCDS13317.1			4058/8148									ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14	c.(4057-4059)CAG>CCG			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF589	chromodomain helicase DNA binding protein 6				ENSP00000362330		27/37									COSM3405082	27/37	.		ENST00000373233	Transcript			chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	ENSG00000124177	g.chr20:40065924T>G	19057			MODERATE		0.835	low	getma.org/?cm=msa&ty=f&p=CHD6_HUMAN&rb=1298&re=1497&var=Q1353P	NA	getma.org/?cm=var&var=hg19,20,40065924,T,G&fts=all	Q1353P	--	--	1																																		CHD6_uc002xkb.1_Missense_Mutation_p.Q119P	1	1		benign(0.001)	p.Q1353P	NM_032221	NP_115597		tolerated(0.46)	1	CHD6_HUMAN	CHD6	HGNC	Q8TD26	CHD6_HUMAN					27	4236	-		Myeloproliferative disorder(115;0.00425)	UPI0000168656	1353					SNV	CHD6,missense_variant,p.Gln1353Pro,ENST00000373233,NM_032221.4;CHD6,3_prime_UTR_variant,,ENST00000440697,;CHD6,downstream_gene_variant,,ENST00000309279,;	uc002xka.1	c.4058A>C	4236/10818	3	3			c.4058A>C						20	SNP	c.(4057-4059)CAG>CCG	64	64			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14	Broad	chromodomain helicase DNA binding protein 6			40065924		0.358	ENSG00000124177	3267	g.chr20:40065924T>G	chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding							113.035759	KEEP	29	24	-1	106	106	29	24	-1	129.673999	106	106	0.211982	1	0	0	0	0	1	0	0	0	--	--		0	G			CHD6_uc002xkb.1_Missense_Mutation_p.Q119P	268	GBM-76-4928-TP	p.Q1353P	T	CGTTTGTTTCTGGAGGCCATC	NM_032221	NP_115597	40065924	Q8TD26	CHD6_HUMAN	0			27	4236	-	G	G		Myeloproliferative disorder(115;0.00425)	Missense_Mutation	1353						
CHD7	55636	broad.mit.edu	GRCh37	8	61769443	61769443	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0211-01	TCGA-06-0211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000423902.2:c.7604G>A	p.Ser2535Asn	p.S2535N	ENST00000423902	NM_017780.3	2535	aGt/aAt	0			1			A	S/N	uc003xue.2	protein_coding	YES	CCDS47865.1			7604/8994									ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9	c.(7603-7605)AGT>AAT				chromodomain helicase DNA binding protein 7				ENSP00000392028		34/38									COSM3413081	34/38	.		ENST00000423902	Transcript	1		central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	ENSG00000171316	g.chr8:61769443G>A	20626			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=CHD7_HUMAN&rb=2405&re=2561&var=S2535N	NA	getma.org/?cm=var&var=hg19,8,61769443,G,A&fts=all	S2535N	--	--	1																																			1	1		benign(0.003)	p.S2535N	NM_017780	NP_060250			1	CHD7_HUMAN	CHD7	HGNC	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		H0YDC1_HUMAN,E9PP20_HUMAN		34	8081	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	UPI0000251DA6	2535					SNV	CHD7,missense_variant,p.Ser2535Asn,ENST00000423902,NM_017780.3;CHD7,intron_variant,,ENST00000524602,;CHD7,non_coding_transcript_exon_variant,,ENST00000529472,;CHD7,downstream_gene_variant,,ENST00000527921,;CHD7,non_coding_transcript_exon_variant,,ENST00000531695,;	uc003xue.2	c.7604G>A	8083/10446	1	1			c.7604G>A						8	SNP	c.(7603-7605)AGT>AAT	51	51			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9	Broad	chromodomain helicase DNA binding protein 7			61769443		0.542	ENSG00000171316	3268	g.chr8:61769443G>A	central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity							-9.54079	KEEP	0	7	-1	52	57	0	7	-1	11.263631	52	57	0.058824	1	0	0	0	0	1	0	0	0	--	--		0	A				48	GBM-06-0211-TP	p.S2535N	G	ACGTCATTGAGTGCAGTAAGT	NM_017780	NP_060250	61769443	Q9P2D1	CHD7_HUMAN	0	BRCA - Breast invasive adenocarcinoma(89;0.143)		34	8081	+	A	A		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	Missense_Mutation	2535						
CHD7	55636	broad.mit.edu	GRCh37	8	61764695	61764695	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0877-01	TCGA-06-0877-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000423902.2:c.5783A>T	p.Gln1928Leu	p.Q1928L	ENST00000423902	NM_017780.3	1928	cAg/cTg	0			1			T	Q/L	uc003xue.2	protein_coding	YES	CCDS47865.1			5783/8994									ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9	c.(5782-5784)CAG>CTG			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF551	chromodomain helicase DNA binding protein 7				ENSP00000392028		29/38									COSM2152177	29/38	.		ENST00000423902	Transcript	1		central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	ENSG00000171316	g.chr8:61764695A>T	20626			MODERATE		1.25	low	getma.org/?cm=msa&ty=f&p=CHD7_HUMAN&rb=1805&re=2004&var=Q1928L	NA	getma.org/?cm=var&var=hg19,8,61764695,A,T&fts=all	Q1928L	--	--	1																																			1	1		probably_damaging(0.966)	p.Q1928L	NM_017780	NP_060250			1	CHD7_HUMAN	CHD7	HGNC	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		H0YDC1_HUMAN,E9PP20_HUMAN		29	6260	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	UPI0000251DA6	1928					SNV	CHD7,missense_variant,p.Gln1928Leu,ENST00000423902,NM_017780.3;CHD7,intron_variant,,ENST00000524602,;CHD7,non_coding_transcript_exon_variant,,ENST00000527921,;CHD7,upstream_gene_variant,,ENST00000529472,;CHD7,upstream_gene_variant,,ENST00000531695,;	uc003xue.2	c.5783A>T	6262/10446	1	1			c.5783A>T						8	SNP	c.(5782-5784)CAG>CTG	1	1			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9	Broad	chromodomain helicase DNA binding protein 7			61764695		0.527	ENSG00000171316	3268	g.chr8:61764695A>T	central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity							94.60457	KEEP	19	15	-1	30	41	19	15	-1	97.402607	30	41	0.319588	1	0	0	0	0	1	0	0	0	--	--		0	T				73	GBM-06-0877-TP	p.Q1928L	A	AAAAGGCAACAGATGAGGCAA	NM_017780	NP_060250	61764695	Q9P2D1	CHD7_HUMAN	0	BRCA - Breast invasive adenocarcinoma(89;0.143)		29	6260	+	T	T		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	Missense_Mutation	1928						
CHD8	57680	broad.mit.edu	GRCh37	14	21884031	21884031	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0238-01	TCGA-06-0238-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399982.2:c.1752del	p.Lys584AsnfsTer8	p.K584Nfs*8	ENST00000399982	NM_001170629.1	584	aaA/aa	0			1			-	K/X	uc001was.1	protein_coding	YES	CCDS53885.1			1752/7746									ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	c.(913-915)AAAfs			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF551	chromodomain helicase DNA binding protein 8				ENSP00000382863		May-37										May-37	.		ENST00000399982	Transcript	1		ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	ENSG00000100888	g.chr14:21884031delT	20153			HIGH								--	--	1																																		CHD8_uc001war.1_Frame_Shift_Del_p.K201fs		1			p.K305fs	NM_020920	NP_065971				CHD8_HUMAN	CHD8	HGNC	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)			6	1009	-	all_cancers(95;0.00121)		UPI00002375B9	584					deletion	CHD8,frameshift_variant,p.Lys584AsnfsTer8,ENST00000399982,NM_001170629.1;CHD8,frameshift_variant,p.Lys584AsnfsTer8,ENST00000557364,;CHD8,frameshift_variant,p.Lys305AsnfsTer8,ENST00000430710,NM_020920.3;CHD8,intron_variant,,ENST00000555962,;CHD8,upstream_gene_variant,,ENST00000554384,;EIF4EBP1P1,upstream_gene_variant,,ENST00000557776,;	uc001was.1	c.915delA	1817/8229	5	5			c.915delA						14	DEL	c.(913-915)AAAfs	48	48			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	Broad	chromodomain helicase DNA binding protein 8			21884031		0.398	ENSG00000100888	3269	g.chr14:21884031delT	ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			886			886														0.03	1	1	0	1	0	0	0	0	0	--	--		0	-			CHD8_uc001war.1_Frame_Shift_Del_p.K201fs	55	GBM-06-0238-TP	p.K305fs	T	CCTCTGTATATTTTTTTCGCT	NM_020920	NP_065971	21884031	Q9HCK8	CHD8_HUMAN	0	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	6	1009	-	-	-	all_cancers(95;0.00121)		Frame_Shift_Del	584						
CHD8	57680	broad.mit.edu	GRCh37	14	21876716	21876716	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C			TCGA-06-1804-01	TCGA-06-1804-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399982.2:c.2487-2A>G		p.X829_splice	ENST00000399982	NM_001170629.1	829		0			1			C		uc001was.1	protein_coding	YES	CCDS53885.1			2487/7746									ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	c.e13-1				chromodomain helicase DNA binding protein 8				ENSP00000382863											COSM3401227,COSM3401226		.		ENST00000399982	Transcript	1		ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	ENSG00000100888	g.chr14:21876716T>C	20153			HIGH	Nov-36							--	--	1																																		CHD8_uc001war.1_Splice_Site_p.R446_splice|CHD8_uc001wav.1_Splice_Site	1,1	1			p.R550_splice	NM_020920	NP_065971			1,1	CHD8_HUMAN	CHD8	HGNC	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)			13	1744	-	all_cancers(95;0.00121)		UPI00002375B9						SNV	CHD8,splice_acceptor_variant,,ENST00000399982,NM_001170629.1;CHD8,splice_acceptor_variant,,ENST00000557364,;CHD8,splice_acceptor_variant,,ENST00000430710,NM_020920.3;CHD8,splice_acceptor_variant,,ENST00000555935,;CHD8,intron_variant,,ENST00000555962,;CHD8,non_coding_transcript_exon_variant,,ENST00000554384,;	uc001was.1	c.1650_splice	-/8229	5	4			c.1650_splice						14	SNP	c.e13-1	45	45			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	Broad	chromodomain helicase DNA binding protein 8			21876716		0.353	ENSG00000100888	3269	g.chr14:21876716T>C	ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			886			886	15.945613	KEEP	4	2	-1	6	3	4	2	-1	16.077142	6	3	0.4	1	0	0	0	0	0	0	0	1	--	--		0	C			CHD8_uc001war.1_Splice_Site_p.R446_splice|CHD8_uc001wav.1_Splice_Site	79	GBM-06-1804-TP	p.R550_splice	T	CAGTTCTGCCTGCAGATTCAC	NM_020920	NP_065971	21876716	Q9HCK8	CHD8_HUMAN	0	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	13	1744	-	C	C	all_cancers(95;0.00121)		Splice_Site							
CHD8	57680	broad.mit.edu	GRCh37	14	21871325	21871325	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-5410-01	TCGA-06-5410-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399982.2:c.3565C>T	p.Gln1189Ter	p.Q1189*	ENST00000399982	NM_001170629.1	1189	Cag/Tag	0			1			A	Q/*	uc001was.1	protein_coding	YES	CCDS53885.1			3565/7746									ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	c.(2728-2730)CAG>TAG			Gene3D:3.40.50.300,Pfam_domain:PF00271,PROSITE_profiles:PS51194,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF551,SMART_domains:SM00490,Superfamily_domains:SSF52540	chromodomain helicase DNA binding protein 8				ENSP00000382863		17/37									COSM3401223,COSM3401222	17/37	.		ENST00000399982	Transcript	1		ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	ENSG00000100888	g.chr14:21871325G>A	20153			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,14,21871325,G,A&fts=all	Q1189*	--	--	1																																		CHD8_uc001war.1_Nonsense_Mutation_p.Q806*|CHD8_uc001wav.1_Nonsense_Mutation_p.Q352*	1,1	1			p.Q910*	NM_020920	NP_065971			1,1	CHD8_HUMAN	CHD8	HGNC	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)			18	2822	-	all_cancers(95;0.00121)		UPI00002375B9	1189			Helicase C-terminal.		SNV	CHD8,stop_gained,p.Gln1189Ter,ENST00000399982,NM_001170629.1;CHD8,stop_gained,p.Gln1189Ter,ENST00000557364,;CHD8,stop_gained,p.Gln910Ter,ENST00000430710,NM_020920.3;CHD8,stop_gained,p.Gln415Ter,ENST00000555935,;CHD8,intron_variant,,ENST00000555962,;RP11-689J19.1,downstream_gene_variant,,ENST00000480068,;	uc001was.1	c.2728C>T	3630/8229	5	2			c.2728C>T						14	SNP	c.(2728-2730)CAG>TAG	17	17			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	Broad	chromodomain helicase DNA binding protein 8			21871325		0.478	ENSG00000100888	3269	g.chr14:21871325G>A	ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			886			886	-2.246359	KEEP	2	2	-1	23	35	2	2	-1	8.622382	23	35	0.070175	1	0	0	0	0	0	1	0	0	--	--		0	A			CHD8_uc001war.1_Nonsense_Mutation_p.Q806*|CHD8_uc001wav.1_Nonsense_Mutation_p.Q352*	93	GBM-06-5410-TP	p.Q910*	G	ATGGCAGCCTGTCGAAGGTTG	NM_020920	NP_065971	21871325	Q9HCK8	CHD8_HUMAN	0	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	18	2822	-	A	A	all_cancers(95;0.00121)		Nonsense_Mutation	1189			Helicase C-terminal.			
CHD8	57680	broad.mit.edu	GRCh37	14	21860822	21860832	+	frameshift_variant	Frame_Shift_Del	DEL	AGGAGTCAATG	AGGAGTCAATG	-			TCGA-06-5413-01	TCGA-06-5413-01	AGGAGTCAATG	AGGAGTCAATG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399982.2:c.6605_6615del	p.Ser2202TrpfsTer5	p.S2202Wfs*5	ENST00000399982	NM_001170629.1	2202	tCATTGACTCCT/t	0			1			-	SLTP/X	uc001was.1	protein_coding	YES	CCDS53885.1			6605-6615/7746									ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	c.(5767-5778)TCATTGACTCCTfs				chromodomain helicase DNA binding protein 8				ENSP00000382863		33/37										33/37	.		ENST00000399982	Transcript	1		ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	ENSG00000100888	g.chr14:21860822_21860832delAGGAGTCAATG	20153			HIGH								--	--	1																																		CHD8_uc001war.1_Frame_Shift_Del_p.S1819fs|SNORD9_uc001wat.1_5'Flank		1			p.S1923fs	NM_020920	NP_065971				CHD8_HUMAN	CHD8	HGNC	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)			34	5862_5872	-	all_cancers(95;0.00121)		UPI00002375B9	2202_2205					deletion	CHD8,frameshift_variant,p.Ser2202TrpfsTer5,ENST00000399982,NM_001170629.1;CHD8,frameshift_variant,p.Ser2202TrpfsTer5,ENST00000557364,;CHD8,frameshift_variant,p.Ser1923TrpfsTer5,ENST00000430710,NM_020920.3;CHD8,frameshift_variant,p.Ser39TrpfsTer5,ENST00000553870,;SNORD8,downstream_gene_variant,,ENST00000363915,NR_002916.2;SNORD9,upstream_gene_variant,,ENST00000362566,NR_003029.2;CHD8,downstream_gene_variant,,ENST00000555962,;CHD8,downstream_gene_variant,,ENST00000555301,;CHD8,downstream_gene_variant,,ENST00000557329,;	uc001was.1	c.5768_5778delCATTGACTCCT	6670-6680/8229	5	5			c.5768_5778delCATTGACTCCT						14	DEL	c.(5767-5778)TCATTGACTCCTfs	44	44			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	Broad	chromodomain helicase DNA binding protein 8			21860832		0.555	ENSG00000100888	3269	g.chr14:21860822_21860832delAGGAGTCAATG	ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			886			886														0.22	1	1	0	1	0	0	0	0	0	--	--		0	-			CHD8_uc001war.1_Frame_Shift_Del_p.S1819fs|SNORD9_uc001wat.1_5'Flank	96	GBM-06-5413-TP	p.S1923fs	AGGAGTCAATG	CATATTCTCCAGGAGTCAATGAGGGACTGTC	NM_020920	NP_065971	21860822	Q9HCK8	CHD8_HUMAN	0	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	34	5862_5872	-	-	-	all_cancers(95;0.00121)		Frame_Shift_Del	2202_2205						
CHD8	0	broad.mit.edu	GRCh37	14	21871175	21871175	+	splice_donor_variant	Splice_Site	SNP	C	C	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399982.2:c.3714+1G>A		p.X1238_splice	ENST00000399982	NM_001170629.1			0			1			T		uc001was.1	protein_coding	YES	CCDS53885.1			3714/7746									ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	c.e18+1				chromodomain helicase DNA binding protein 8				ENSP00000382863											COSM3401221,COSM3401220		.		ENST00000399982	Transcript	1		ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	ENSG00000100888	g.chr14:21871175C>T	20153			HIGH	17/36							--	--	1																																		CHD8_uc001war.1_Splice_Site_p.Q855_splice|CHD8_uc001wav.1_Splice_Site_p.Q401_splice	1,1	1			p.Q959_splice	NM_020920	NP_065971			1,1	CHD8_HUMAN	CHD8	HGNC	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)			18	2971	-	all_cancers(95;0.00121)		UPI00002375B9						SNV	CHD8,splice_donor_variant,,ENST00000399982,NM_001170629.1;CHD8,splice_donor_variant,,ENST00000557364,;CHD8,splice_donor_variant,,ENST00000430710,NM_020920.3;CHD8,splice_donor_variant,,ENST00000555935,;CHD8,splice_donor_variant,,ENST00000555962,;RP11-689J19.1,downstream_gene_variant,,ENST00000480068,;	uc001was.1	c.2877_splice	-/8229	5	2			c.2877_splice						14	SNP	c.e18+1	33	33			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	Broad	chromodomain helicase DNA binding protein 8			21871175		0.403	ENSG00000100888	3269	g.chr14:21871175C>T	ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			886			886	46.72547	KEEP	9	7	-1	8	5	9	7	-1	46.756387	8	5	0.535714	1	0	0	0	0	0	0	0	1	--	--		0	T			CHD8_uc001war.1_Splice_Site_p.Q855_splice|CHD8_uc001wav.1_Splice_Site_p.Q401_splice	177	GBM-19-5959-TP	p.Q959_splice	C	AATTCCTTTACCTGCAGGTCA	NM_020920	NP_065971	21871175	Q9HCK8	CHD8_HUMAN	0	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	18	2971	-	T	T	all_cancers(95;0.00121)		Splice_Site							
CHD8	0	broad.mit.edu	GRCh37	14	21870120	21870120	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-26-1442-01	TCGA-26-1442-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399982.2:c.4058C>G	p.Ala1353Gly	p.A1353G	ENST00000399982	NM_001170629.1	1353	gCt/gGt	0			1			C	A/G	uc001was.1	protein_coding	YES	CCDS53885.1			4058/7746									ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	c.(3220-3222)GCT>GGT			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF551	chromodomain helicase DNA binding protein 8				ENSP00000382863		19/37									COSM3401219,COSM3401218	19/37	.		ENST00000399982	Transcript	1		ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	ENSG00000100888	g.chr14:21870120G>C	20153			MODERATE		2.595	medium	getma.org/?cm=msa&ty=f&p=CHD8_HUMAN&rb=1248&re=1447&var=A1353G	NA	getma.org/?cm=var&var=hg19,14,21870120,G,C&fts=all	A1353G	--	--	1																																		CHD8_uc001war.1_Missense_Mutation_p.A970G|CHD8_uc001wav.1_Missense_Mutation_p.A516G	1,1	1		benign(0.217)	p.A1074G	NM_020920	NP_065971		deleterious(0)	1,1	CHD8_HUMAN	CHD8	HGNC	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)			20	3315	-	all_cancers(95;0.00121)		UPI00002375B9	1353					SNV	CHD8,missense_variant,p.Ala1353Gly,ENST00000399982,NM_001170629.1;CHD8,missense_variant,p.Ala1353Gly,ENST00000557364,;CHD8,missense_variant,p.Ala1074Gly,ENST00000430710,NM_020920.3;CHD8,missense_variant,p.Ala579Gly,ENST00000555935,;SNORD8,upstream_gene_variant,,ENST00000363915,NR_002916.2;CHD8,non_coding_transcript_exon_variant,,ENST00000555962,;RP11-689J19.1,downstream_gene_variant,,ENST00000480068,;	uc001was.1	c.3221C>G	4123/8229	3	3			c.3221C>G						14	SNP	c.(3220-3222)GCT>GGT	57	57			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	Broad	chromodomain helicase DNA binding protein 8			21870120		0.353	ENSG00000100888	3269	g.chr14:21870120G>C	ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			886			886	58.978059	KEEP	15	12	-1	59	90	15	12	-1	75.00085	59	90	0.165563	1	0	0	0	0	1	0	0	0	--	--		0	C			CHD8_uc001war.1_Missense_Mutation_p.A970G|CHD8_uc001wav.1_Missense_Mutation_p.A516G	180	GBM-26-1442-TP	p.A1074G	G	ACATGCCTTAGCAAAGGTGGA	NM_020920	NP_065971	21870120	Q9HCK8	CHD8_HUMAN	0	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	20	3315	-	C	C	all_cancers(95;0.00121)		Missense_Mutation	1353						
CHD8	0	broad.mit.edu	GRCh37	14	21860669	21860673	+	frameshift_variant	Frame_Shift_Del	DEL	TTTGA	TTTGA	-			TCGA-32-1982-01	TCGA-32-1982-01	TTTGA	TTTGA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399982.2:c.6764_6768delTCAAA	p.Ile2255ArgfsTer2	p.I2255Rfs*2	ENST00000399982	NM_001170629.1	2255	aTCAAA/a	0			1			-	IK/X	uc001was.1	protein_coding	YES	CCDS53885.1			6764-6768/7746									ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	c.(5926-5931)ATCAAAfs				chromodomain helicase DNA binding protein 8				ENSP00000382863		33/37										33/37	.		ENST00000399982	Transcript	1		ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	ENSG00000100888	g.chr14:21860669_21860673delTTTGA	20153			HIGH								--	--	1																																		CHD8_uc001war.1_Frame_Shift_Del_p.I1872fs|SNORD9_uc001wat.1_5'Flank		1			p.I1976fs	NM_020920	NP_065971				CHD8_HUMAN	CHD8	HGNC	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)			34	6021_6025	-	all_cancers(95;0.00121)		UPI00002375B9	2255_2256					deletion	CHD8,frameshift_variant,p.Ile2255ArgfsTer2,ENST00000399982,NM_001170629.1;CHD8,frameshift_variant,p.Ile2255ArgfsTer2,ENST00000557364,;CHD8,frameshift_variant,p.Ile1976ArgfsTer2,ENST00000430710,NM_020920.3;CHD8,frameshift_variant,p.Ile92ArgfsTer2,ENST00000553870,;SNORD8,downstream_gene_variant,,ENST00000363915,NR_002916.2;SNORD9,upstream_gene_variant,,ENST00000362566,NR_003029.2;CHD8,downstream_gene_variant,,ENST00000555962,;CHD8,downstream_gene_variant,,ENST00000555301,;CHD8,downstream_gene_variant,,ENST00000557329,;	uc001was.1	c.5927_5931delTCAAA	6829-6833/8229	5	5			c.5927_5931delTCAAA						14	DEL	c.(5926-5931)ATCAAAfs	9	9			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	Broad	chromodomain helicase DNA binding protein 8			21860673		0.468	ENSG00000100888	3269	g.chr14:21860669_21860673delTTTGA	ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding		p.K1873*(OVISE-Tumor)	886		p.K1873*(OVISE-Tumor)	886														0.21	1	1	0	1	0	0	0	0	0	--	--		0	-			CHD8_uc001war.1_Frame_Shift_Del_p.I1872fs|SNORD9_uc001wat.1_5'Flank	232	GBM-32-1982-TP	p.I1976fs	TTTGA	AGCTTACATCTTTGATTTGAACTGT	NM_020920	NP_065971	21860669	Q9HCK8	CHD8_HUMAN	0	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	34	6021_6025	-	-	-	all_cancers(95;0.00121)		Frame_Shift_Del	2255_2256						
CHD8	57680		GRCh37	14	21897194	21897194	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000399982.2:c.1144C>T	p.Gln382Ter	p.Q382*	ENST00000399982	NM_001170629.1	382	Cag/Tag	0																																																																																																																																																																																																																																												
CHD9	80205	broad.mit.edu	GRCh37	16	53289572	53289572	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0126-01	TCGA-06-0126-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000566029.1:c.4090A>G	p.Ile1364Val	p.I1364V	ENST00000566029		1364	Att/Gtt	0			1			G	I/V	uc002ehb.2	protein_coding					4090/8694									lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7	c.(4090-4092)ATT>GTT			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF48,Superfamily_domains:SSF52540	chromodomain helicase DNA binding protein 9				ENSP00000381522		18/38									COSM3402356	18/38	.		ENST00000398510	Transcript			cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	ENSG00000177200	g.chr16:53289572A>G	25701			MODERATE		1.65	low	getma.org/?cm=msa&ty=f&p=CHD9_HUMAN&rb=1297&re=1496&var=I1364V	NA	getma.org/?cm=var&var=hg19,16,53289572,A,G&fts=all	I1364V	--	--	1																																		CHD9_uc002egy.2_Missense_Mutation_p.I1364V|CHD9_uc002ehc.2_Missense_Mutation_p.I1364V|CHD9_uc002ehf.2_Missense_Mutation_p.I478V|CHD9_uc002ehd.2_Missense_Mutation_p.I890V	1			possibly_damaging(0.873)	p.I1364V	NM_025134	NP_079410			1	CHD9_HUMAN	CHD9	HGNC	Q3L8U1	CHD9_HUMAN			H3BV31_HUMAN,H3BSP3_HUMAN,H3BRU9_HUMAN		18	4254	+		all_cancers(37;0.0212)	UPI0000E02AC8	1364					SNV	CHD9,missense_variant,p.Ile1364Val,ENST00000566029,;CHD9,missense_variant,p.Ile1364Val,ENST00000564845,;CHD9,missense_variant,p.Ile1364Val,ENST00000447540,NM_025134.4;CHD9,missense_variant,p.Ile1364Val,ENST00000398510,;CHD9,missense_variant,p.Ile890Val,ENST00000565803,;Y_RNA,upstream_gene_variant,,ENST00000391280,;CHD9,non_coding_transcript_exon_variant,,ENST00000219084,;CHD9,downstream_gene_variant,,ENST00000562806,;	uc002ehb.2	c.4090A>G	4177/11337	3	3			c.4090A>G						16	SNP	c.(4090-4092)ATT>GTT	52	52			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7	Broad	chromodomain helicase DNA binding protein 9			53289572		0.348	ENSG00000177200	3270	g.chr16:53289572A>G	cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			1157			1157	211.069738	KEEP	38	31	-1	70	42	38	31	-1	213.763329	70	42	0.363636	1	0	0	0	0	1	0	0	0	--	--		0	G			CHD9_uc002egy.2_Missense_Mutation_p.I1364V|CHD9_uc002ehc.2_Missense_Mutation_p.I1364V|CHD9_uc002ehf.2_Missense_Mutation_p.I478V|CHD9_uc002ehd.2_Missense_Mutation_p.I890V	13	GBM-06-0126-TP	p.I1364V	A	TTATGGTGCTATTATGGAGGA	NM_025134	NP_079410	53289572	Q3L8U1	CHD9_HUMAN	0			18	4254	+	G	G		all_cancers(37;0.0212)	Missense_Mutation	1364						
CHD9	80205	broad.mit.edu	GRCh37	16	53337775	53337775	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01	TCGA-06-0185-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000566029.1:c.5857C>T	p.Pro1953Ser	p.P1953S	ENST00000566029		1953	Cca/Tca	0			1			T	P/S	uc002ehb.2	protein_coding					5857/8694									lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7	c.(5857-5859)CCA>TCA			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF48	chromodomain helicase DNA binding protein 9				ENSP00000381522		30/38									COSM3402359	30/38	.		ENST00000398510	Transcript			cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	ENSG00000177200	g.chr16:53337775C>T	25701			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=CHD9_HUMAN&rb=1897&re=2096&var=P1953S	NA	getma.org/?cm=var&var=hg19,16,53337775,C,T&fts=all	P1953S	--	--	1																																		CHD9_uc002egy.2_Missense_Mutation_p.P1953S|CHD9_uc002ehc.2_Missense_Mutation_p.P1953S|CHD9_uc002ehf.2_Missense_Mutation_p.P1067S|CHD9_uc010cbw.2_Intron|CHD9_uc002ehg.1_5'UTR	1			benign(0.109)	p.P1953S	NM_025134	NP_079410			1	CHD9_HUMAN	CHD9	HGNC	Q3L8U1	CHD9_HUMAN			H3BV31_HUMAN,H3BSP3_HUMAN,H3BRU9_HUMAN		30	6021	+		all_cancers(37;0.0212)	UPI0000E02AC8	1953					SNV	CHD9,missense_variant,p.Pro1953Ser,ENST00000566029,;CHD9,missense_variant,p.Pro1953Ser,ENST00000564845,;CHD9,missense_variant,p.Pro1953Ser,ENST00000447540,NM_025134.4;CHD9,missense_variant,p.Pro1953Ser,ENST00000398510,;CHD9,non_coding_transcript_exon_variant,,ENST00000219084,;RP11-454F8.2,downstream_gene_variant,,ENST00000566796,;	uc002ehb.2	c.5857C>T	5944/11337	1	1			c.5857C>T						16	SNP	c.(5857-5859)CCA>TCA	13	13			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7	Broad	chromodomain helicase DNA binding protein 9			53337775		0.478	ENSG00000177200	3270	g.chr16:53337775C>T	cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			1157			1157	-9.76477	KEEP	5	2	-1	60	46	5	2	-1	10.116055	60	46	0.061224	1	0	0	0	0	1	0	0	0	--	--		0	T			CHD9_uc002egy.2_Missense_Mutation_p.P1953S|CHD9_uc002ehc.2_Missense_Mutation_p.P1953S|CHD9_uc002ehf.2_Missense_Mutation_p.P1067S|CHD9_uc010cbw.2_Intron|CHD9_uc002ehg.1_5'UTR	40	GBM-06-0185-TP	p.P1953S	C	GCTTTGCCATCCAAATCCAGA	NM_025134	NP_079410	53337775	Q3L8U1	CHD9_HUMAN	0			30	6021	+	T	T		all_cancers(37;0.0212)	Missense_Mutation	1953						
CHD9	80205	broad.mit.edu	GRCh37	16	53190481	53190481	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0745-01	TCGA-06-0745-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000566029.1:c.480T>A	p.His160Gln	p.H160Q	ENST00000566029		160	caT/caA	0			1			A	H/Q	uc002ehb.2	protein_coding					480/8694									lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7	c.(478-480)CAT>CAA			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF48	chromodomain helicase DNA binding protein 9				ENSP00000381522		Jan-38									COSM2151713	Jan-38	.		ENST00000398510	Transcript			cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	ENSG00000177200	g.chr16:53190481T>A	25701			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=CHD9_HUMAN&rb=121&re=683&var=H160Q	NA	getma.org/?cm=var&var=hg19,16,53190481,T,A&fts=all	H160Q	--	--	1																																		CHD9_uc002egy.2_Missense_Mutation_p.H160Q|CHD9_uc002egz.1_Missense_Mutation_p.H160Q|CHD9_uc002eha.1_Missense_Mutation_p.H160Q|CHD9_uc002ehc.2_Missense_Mutation_p.H160Q	1			benign(0.008)	p.H160Q	NM_025134	NP_079410			1	CHD9_HUMAN	CHD9	HGNC	Q3L8U1	CHD9_HUMAN			H3BV31_HUMAN,H3BSP3_HUMAN,H3BRU9_HUMAN		1	644	+		all_cancers(37;0.0212)	UPI0000E02AC8	160					SNV	CHD9,missense_variant,p.His160Gln,ENST00000566029,;CHD9,missense_variant,p.His160Gln,ENST00000564845,;CHD9,missense_variant,p.His160Gln,ENST00000447540,NM_025134.4;CHD9,missense_variant,p.His160Gln,ENST00000398510,;CHD9,missense_variant,p.His160Gln,ENST00000565832,;CHD9,intron_variant,,ENST00000562785,;CHD9,downstream_gene_variant,,ENST00000563410,;CHD9,upstream_gene_variant,,ENST00000564255,;	uc002ehb.2	c.480T>A	567/11337	1	1			c.480T>A						16	SNP	c.(478-480)CAT>CAA	51	51			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7	Broad	chromodomain helicase DNA binding protein 9			53190481		0.388	ENSG00000177200	3270	g.chr16:53190481T>A	cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			1157			1157	220.646067	KEEP	30	40	-1	37	37	30	40	-1	220.685627	37	37	0.481752	1	0	0	0	0	1	0	0	0	--	--		0	A			CHD9_uc002egy.2_Missense_Mutation_p.H160Q|CHD9_uc002egz.1_Missense_Mutation_p.H160Q|CHD9_uc002eha.1_Missense_Mutation_p.H160Q|CHD9_uc002ehc.2_Missense_Mutation_p.H160Q	67	GBM-06-0745-TP	p.H160Q	T	TGGCACACCATGACTTTGCCT	NM_025134	NP_079410	53190481	Q3L8U1	CHD9_HUMAN	0			1	644	+	A	A		all_cancers(37;0.0212)	Missense_Mutation	160						
CHD9	0	broad.mit.edu	GRCh37	16	53308187	53308187	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-19-5954-01	TCGA-19-5954-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398510.3:c.4940A>T	p.Gln1647Leu	p.Q1647L	ENST00000398510		1647	cAg/cTg	0			1			T	Q/L	uc002ehb.2	protein_coding					4940/8694									lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7	c.(4939-4941)CAG>CTG			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF48	chromodomain helicase DNA binding protein 9				ENSP00000381522		23/38									COSM3402357	23/38	.		ENST00000398510	Transcript			cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	ENSG00000177200	g.chr16:53308187A>T	25701			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=CHD9_HUMAN&rb=1497&re=1696&var=Q1647L	NA	getma.org/?cm=var&var=hg19,16,53308187,A,T&fts=all	Q1647L	--	--	1																																		CHD9_uc002egy.2_Missense_Mutation_p.Q1647L|CHD9_uc002ehc.2_Missense_Mutation_p.Q1647L|CHD9_uc002ehf.2_Missense_Mutation_p.Q761L|CHD9_uc010cbw.2_Missense_Mutation_p.Q15L	1			benign(0.165)	p.Q1647L	NM_025134	NP_079410			1	CHD9_HUMAN	CHD9	HGNC	Q3L8U1	CHD9_HUMAN			H3BV31_HUMAN,H3BSP3_HUMAN,H3BRU9_HUMAN		23	5104	+		all_cancers(37;0.0212)	UPI0000E02AC8	1647					SNV	CHD9,missense_variant,p.Gln1647Leu,ENST00000566029,;CHD9,missense_variant,p.Gln1647Leu,ENST00000564845,;CHD9,missense_variant,p.Gln1647Leu,ENST00000447540,NM_025134.4;CHD9,missense_variant,p.Gln1647Leu,ENST00000398510,;CHD9,non_coding_transcript_exon_variant,,ENST00000219084,;	uc002ehb.2	c.4940A>T	5027/11337	1	1			c.4940A>T						16	SNP	c.(4939-4941)CAG>CTG	8	8			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7	Broad	chromodomain helicase DNA binding protein 9			53308187		0.244	ENSG00000177200	3270	g.chr16:53308187A>T	cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			1157			1157	9.789977	KEEP	2	3	-1	8	10	2	3	-1	11.067943	8	10	0.222222	1	0	0	0	0	1	0	0	0	--	--		0	T			CHD9_uc002egy.2_Missense_Mutation_p.Q1647L|CHD9_uc002ehc.2_Missense_Mutation_p.Q1647L|CHD9_uc002ehf.2_Missense_Mutation_p.Q761L|CHD9_uc010cbw.2_Missense_Mutation_p.Q15L	174	GBM-19-5954-TP	p.Q1647L	A	AATGAGTGTCAGAAAGTATTT	NM_025134	NP_079410	53308187	Q3L8U1	CHD9_HUMAN	0			23	5104	+	T	T		all_cancers(37;0.0212)	Missense_Mutation	1647						
CHD9	0	broad.mit.edu	GRCh37	16	53330872	53330872	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-27-2524-01	TCGA-27-2524-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398510.3:c.5515A>G	p.Thr1839Ala	p.T1839A	ENST00000398510		1839	Aca/Gca	0			1			G	T/A	uc002ehb.2	protein_coding					5515/8694									lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7	c.(5515-5517)ACA>GCA			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF48	chromodomain helicase DNA binding protein 9				ENSP00000381522		29/38									COSM3402358	29/38	.		ENST00000398510	Transcript			cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	ENSG00000177200	g.chr16:53330872A>G	25701			MODERATE		2.845	medium	getma.org/?cm=msa&ty=f&p=CHD9_HUMAN&rb=1697&re=1896&var=T1839A	NA	getma.org/?cm=var&var=hg19,16,53330872,A,G&fts=all	T1839A	--	--	1																																		CHD9_uc002egy.2_Missense_Mutation_p.T1839A|CHD9_uc002ehc.2_Missense_Mutation_p.T1839A|CHD9_uc002ehf.2_Missense_Mutation_p.T953A|CHD9_uc010cbw.2_Missense_Mutation_p.T207A	1			possibly_damaging(0.885)	p.T1839A	NM_025134	NP_079410			1	CHD9_HUMAN	CHD9	HGNC	Q3L8U1	CHD9_HUMAN			H3BV31_HUMAN,H3BSP3_HUMAN,H3BRU9_HUMAN		29	5679	+		all_cancers(37;0.0212)	UPI0000E02AC8	1839					SNV	CHD9,missense_variant,p.Thr1839Ala,ENST00000566029,;CHD9,missense_variant,p.Thr1839Ala,ENST00000564845,;CHD9,missense_variant,p.Thr1839Ala,ENST00000447540,NM_025134.4;CHD9,missense_variant,p.Thr1839Ala,ENST00000398510,;CHD9,non_coding_transcript_exon_variant,,ENST00000219084,;RP11-454F8.2,upstream_gene_variant,,ENST00000566796,;	uc002ehb.2	c.5515A>G	5602/11337	3	3			c.5515A>G						16	SNP	c.(5515-5517)ACA>GCA	63	63			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7	Broad	chromodomain helicase DNA binding protein 9			53330872		0.294	ENSG00000177200	3270	g.chr16:53330872A>G	cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			1157			1157	35.029474	KEEP	7	12	-1	72	78	7	12	-1	57.359488	72	78	0.120253	1	0	0	0	0	1	0	0	0	--	--		0	G			CHD9_uc002egy.2_Missense_Mutation_p.T1839A|CHD9_uc002ehc.2_Missense_Mutation_p.T1839A|CHD9_uc002ehf.2_Missense_Mutation_p.T953A|CHD9_uc010cbw.2_Missense_Mutation_p.T207A	202	GBM-27-2524-TP	p.T1839A	A	AAATAGATGGACAAGAAGAGA	NM_025134	NP_079410	53330872	Q3L8U1	CHD9_HUMAN	0			29	5679	+	G	G		all_cancers(37;0.0212)	Missense_Mutation	1839						
CHD9	0	broad.mit.edu	GRCh37	16	53190198	53190198	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-1991-01	TCGA-32-1991-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398510.3:c.197C>A	p.Thr66Asn	p.T66N	ENST00000398510		66	aCt/aAt	0			1			A	T/N	uc002ehb.2	protein_coding					197/8694									lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7	c.(196-198)ACT>AAT			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF48	chromodomain helicase DNA binding protein 9				ENSP00000381522		Jan-38									COSM3402354	Jan-38	.		ENST00000398510	Transcript			cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	ENSG00000177200	g.chr16:53190198C>A	25701			MODERATE		0.205	neutral	getma.org/?cm=msa&ty=f&p=CHD9_HUMAN&rb=1&re=120&var=T66N	NA	getma.org/?cm=var&var=hg19,16,53190198,C,A&fts=all	T66N	--	--	1																																		CHD9_uc002egy.2_Missense_Mutation_p.T66N|CHD9_uc002egz.1_Missense_Mutation_p.T66N|CHD9_uc002eha.1_Missense_Mutation_p.T66N|CHD9_uc002ehc.2_Missense_Mutation_p.T66N	1			benign(0.001)	p.T66N	NM_025134	NP_079410			1	CHD9_HUMAN	CHD9	HGNC	Q3L8U1	CHD9_HUMAN			H3BV31_HUMAN,H3BSP3_HUMAN,H3BRU9_HUMAN		1	361	+		all_cancers(37;0.0212)	UPI0000E02AC8	66					SNV	CHD9,missense_variant,p.Thr66Asn,ENST00000566029,;CHD9,missense_variant,p.Thr66Asn,ENST00000564845,;CHD9,missense_variant,p.Thr66Asn,ENST00000447540,NM_025134.4;CHD9,missense_variant,p.Thr66Asn,ENST00000398510,;CHD9,missense_variant,p.Thr66Asn,ENST00000565832,;CHD9,intron_variant,,ENST00000562785,;CHD9,downstream_gene_variant,,ENST00000563410,;CHD9,upstream_gene_variant,,ENST00000564255,;	uc002ehb.2	c.197C>A	284/11337	1	1			c.197C>A						16	SNP	c.(196-198)ACT>AAT	54	54			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7	Broad	chromodomain helicase DNA binding protein 9			53190198		0.363	ENSG00000177200	3270	g.chr16:53190198C>A	cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			1157			1157	-18.930992	KEEP	2	1	0.333333333	52	58	2	1	0.333333333	7.294062	52	58	0.028037	1	0	0	0	0	1	0	0	0	--	--		0	A			CHD9_uc002egy.2_Missense_Mutation_p.T66N|CHD9_uc002egz.1_Missense_Mutation_p.T66N|CHD9_uc002eha.1_Missense_Mutation_p.T66N|CHD9_uc002ehc.2_Missense_Mutation_p.T66N	234	GBM-32-1991-TP	p.T66N	C	CAGAAGATGACTGATTTTGAA	NM_025134	NP_079410	53190198	Q3L8U1	CHD9_HUMAN	0			1	361	+	A	A		all_cancers(37;0.0212)	Missense_Mutation	66						
CHD9	0	broad.mit.edu	GRCh37	16	53358755	53358755	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-4213-01	TCGA-32-4213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398510.3:c.8642C>A	p.Ser2881Tyr	p.S2881Y	ENST00000398510		2881	tCt/tAt	0			1			A	S/Y	uc002ehb.2	protein_coding					8642/8694									lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7	c.(8641-8643)TCT>TAT			Low_complexity_(Seg):seg	chromodomain helicase DNA binding protein 9				ENSP00000381522		38/38									COSM3402361	38/38	.		ENST00000398510	Transcript			cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	ENSG00000177200	g.chr16:53358755C>A	25701			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=CHD9_HUMAN&rb=2800&re=2897&var=S2881Y	NA	getma.org/?cm=var&var=hg19,16,53358755,C,A&fts=all	S2881Y	--	--	1																																		CHD9_uc002egy.2_Missense_Mutation_p.S2865Y|CHD9_uc002ehc.2_Missense_Mutation_p.S2866Y|CHD9_uc002ehf.2_Missense_Mutation_p.S1979Y|CHD9_uc010cbw.2_Missense_Mutation_p.S947Y	1			unknown(0)	p.S2881Y	NM_025134	NP_079410			1	CHD9_HUMAN	CHD9	HGNC	Q3L8U1	CHD9_HUMAN			H3BV31_HUMAN,H3BSP3_HUMAN,H3BRU9_HUMAN		38	8806	+		all_cancers(37;0.0212)	UPI0000E02AC8	2881			Poly-Ser.		SNV	CHD9,missense_variant,p.Ser2865Tyr,ENST00000566029,;CHD9,missense_variant,p.Ser2865Tyr,ENST00000564845,;CHD9,missense_variant,p.Ser2866Tyr,ENST00000447540,NM_025134.4;CHD9,missense_variant,p.Ser2881Tyr,ENST00000398510,;CHD9,non_coding_transcript_exon_variant,,ENST00000219084,;CHD9,downstream_gene_variant,,ENST00000564641,;CHD9,downstream_gene_variant,,ENST00000564600,;	uc002ehb.2	c.8642C>A	8729/11337	2	2			c.8642C>A						16	SNP	c.(8641-8643)TCT>TAT	48	48			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7	Broad	chromodomain helicase DNA binding protein 9			53358755		0.388	ENSG00000177200	3270	g.chr16:53358755C>A	cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			1157			1157	21.155489	KEEP	5	6	0.545454545	13	16	5	6	0.545454545	23.202485	13	16	0.25	1	0	0	0	0	1	0	0	0	--	--		0	A			CHD9_uc002egy.2_Missense_Mutation_p.S2865Y|CHD9_uc002ehc.2_Missense_Mutation_p.S2866Y|CHD9_uc002ehf.2_Missense_Mutation_p.S1979Y|CHD9_uc010cbw.2_Missense_Mutation_p.S947Y	247	GBM-32-4213-TP	p.S2881Y	C	TCATCTGGATCTGATAGTACA	NM_025134	NP_079410	53358755	Q3L8U1	CHD9_HUMAN	0			38	8806	+	A	A		all_cancers(37;0.0212)	Missense_Mutation	2881			Poly-Ser.			
CHD9	80205		GRCh37	16	53276816	53276816	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000566029.1:c.2942G>T	p.Gly981Val	p.G981V	ENST00000566029		981	gGa/gTa	0																																																																																																																																																																																																																																												
CHD9	80205		GRCh37	16	53338029	53338037	+	inframe_deletion	In_Frame_Del	DEL	TAAAGGTAT	TAAAGGTAT	-			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000566029.1:c.6113_6121del	p.Lys2038_Ile2040del	p.K2038_I2040del	ENST00000566029		2037	gcTAAAGGTATt/gct	0																																																																																																																																																																																																																																												
CHDC2	0	broad.mit.edu	GRCh37	X	36103467	36103467	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0132-01	TCGA-06-0132-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313548.4:c.453G>A	p.Ser151=	p.S151=	ENST00000313548	NM_173695.2	151	tcG/tcA	0		A:0	1	A:0.0014		A	S	uc004ddk.1	protein_coding	YES	CCDS14238.1			453/1509									central_nervous_system(1)	1	c.(451-453)TCG>TCA			hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF4	hypothetical protein LOC286464		A:0		ENSP00000324767	A:0	11-May	6.59E-05		0.000108			6.27E-05		0.000199	rs528323979,COSM306956	11-May	.		ENST00000313548	Transcript		A:0.0003		integral to membrane		ENSG00000176034	g.chrX:36103467G>A	26708			LOW								--	--	1																																			0,1	1			p.S151S	NM_173695	NP_775966	A:0		0,1	CHDC2_HUMAN	CHDC2	HGNC	Q8N9S7	CX059_HUMAN					5	639	+			UPI000006F5CD	151					SNV	CHDC2,synonymous_variant,p.=,ENST00000378660,;CHDC2,synonymous_variant,p.=,ENST00000313548,NM_173695.2;	uc004ddk.1	c.453G>A	639/1956	1	1			c.453G>A						23	SNP	c.(451-453)TCG>TCA	64	64			central_nervous_system(1)	1	Broad	hypothetical protein LOC286464			36103467		0.333	ENSG00000176034	4042	g.chrX:36103467G>A		integral to membrane								30.209404	KEEP	11	10	-1	60	40	11	10	-1	40.958135	60	40	0.166667	1	0	0	0	0	0	0	1	0	--	--		0	A				17	GBM-06-0132-TP	p.S151S	G	CATCAACCTCGCCACCCCAAA	NM_173695	NP_775966	36103467	Q8N9S7	CX059_HUMAN	0			5	639	+	A	A			Silent	151						
CHDC2	0	broad.mit.edu	GRCh37	X	36091481	36091481	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T			TCGA-32-2495-01	TCGA-32-2495-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313548.4:c.416G>T	p.Arg139Met	p.R139M	ENST00000313548	NM_173695.2	139	aGg/aTg	0			1			T	R/M	uc004ddk.1	protein_coding	YES	CCDS14238.1			416/1509									central_nervous_system(1)	1	c.(415-417)AGG>ATG			hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF4	hypothetical protein LOC286464				ENSP00000324767		11-Apr									COSM3406335	11-Apr	.		ENST00000313548	Transcript				integral to membrane		ENSG00000176034	g.chrX:36091481G>T	26708			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=CX059_HUMAN&rb=1&re=200&var=R139M	NA	getma.org/?cm=var&var=hg19,X,36091481,G,T&fts=all	R139M	--	--	1																																			1	1		probably_damaging(0.999)	p.R139M	NM_173695	NP_775966		deleterious(0)	1	CHDC2_HUMAN	CHDC2	HGNC	Q8N9S7	CX059_HUMAN					4	602	+			UPI000006F5CD	139					SNV	CHDC2,missense_variant,p.Arg315Met,ENST00000378660,;CHDC2,missense_variant,p.Arg139Met,ENST00000313548,NM_173695.2;	uc004ddk.1	c.416G>T	602/1956	2	2			c.416G>T						23	SNP	c.(415-417)AGG>ATG	48	48			central_nervous_system(1)	1	Broad	hypothetical protein LOC286464			36091481		0.343	ENSG00000176034	4042	g.chrX:36091481G>T		integral to membrane								358.653966	KEEP	58	62	0.483333333	51	71	58	62	0.483333333	358.662862	51	71	0.506667	1	0	0	0	0	1	0	0	0	--	--		0	T				237	GBM-32-2495-TP	p.R139M	G	ACTATAAGAAGGTGAGAGTCC	NM_173695	NP_775966	36091481	Q8N9S7	CX059_HUMAN	0			4	602	+	T	T			Missense_Mutation	139						
CHDH	0	broad.mit.edu	GRCh37	3	53856599	53856599	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315251.6:c.774C>T	p.Ala258=	p.A258=	ENST00000315251	NM_018397.4	258	gcC/gcT	0			1			A	A	uc003dgz.2	protein_coding	YES	CCDS2873.1			774/1785									ovary(1)|central_nervous_system(1)	2	c.(772-774)GCC>GCT			hmmpanther:PTHR11552,hmmpanther:PTHR11552:SF14,Pfam_domain:PF00732,Gene3D:3.50.50.60,PIRSF_domain:PIRSF000137,Superfamily_domains:SSF51905	choline dehydrogenase precursor	Choline(DB00122)			ENSP00000319851		9-Apr	4.12E-05					3.01E-05		0.000182	rs199770725,COSM3408820	9-Apr	.		ENST00000315251	Transcript			alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding	ENSG00000016391	g.chr3:53856599G>A	24288			LOW								--	--	1																																			0,1	1			p.A258A	NM_018397	NP_060867			0,1	CHDH_HUMAN	CHDH	HGNC	Q8NE62	CHDH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	C9JYW4_HUMAN,C9J7D8_HUMAN,B4DMQ4_HUMAN		4	1214	-		Hepatocellular(537;0.152)	UPI000013C538	258					SNV	CHDH,synonymous_variant,p.=,ENST00000315251,NM_018397.4;CHDH,downstream_gene_variant,,ENST00000481668,;CHDH,downstream_gene_variant,,ENST00000467802,;	uc003dgz.2	c.774C>T	1212/7665	2	2			c.774C>T						3	SNP	c.(772-774)GCC>GCT	38	38			ovary(1)|central_nervous_system(1)	2	Broad	choline dehydrogenase precursor		Choline(DB00122)	53856599		0.632	ENSG00000016391	3271	g.chr3:53856599G>A	alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding							29.235015	KEEP	7	8	-1	27	41	7	8	-1	35.504504	27	41	0.188406	1	0	0	0	0	0	0	1	0	--	--		0	A				232	GBM-32-1982-TP	p.A258A	G	CAAGCGTCTCGGCCTCGGCCT	NM_018397	NP_060867	53856599	Q8NE62	CHDH_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	4	1214	-	A	A		Hepatocellular(537;0.152)	Silent	258						
CHEK1	1111	broad.mit.edu	GRCh37	11	125503112	125503112	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428830.2:c.479G>A	p.Arg160His	p.R160H	ENST00000428830	NM_001114121.2	160	cGt/cAt	0			1			A	R/H	uc009zbo.2	protein_coding		CCDS8459.1			479/1431								p.R160H(1)	central_nervous_system(3)|lung(2)|skin(1)	6	c.(478-480)CGT>CAT		Other_conserved_DNA_damage_response_genes	PROSITE_profiles:PS50011,hmmpanther:PTHR24344,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	checkpoint kinase 1				ENSP00000412504		14-Jun	8.24E-05			0.000116		3.00E-05		0.000424	rs778046191,COSM35410	14-Jun	common_variant		ENST00000428830	Transcript			cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	ENSG00000149554	g.chr11:125503112G>A	1925			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=CHK1_HUMAN&rb=9&re=265&var=R160H	getma.org/pdb.php?prot=CHK1_HUMAN&from=9&to=265&var=R160H	getma.org/?cm=var&var=hg19,11,125503112,G,A&fts=all	R160H	--	--	1																																		CHEK1_uc010sbh.1_Missense_Mutation_p.R176H|CHEK1_uc010sbi.1_Missense_Mutation_p.R160H|CHEK1_uc001qcf.3_Missense_Mutation_p.R160H|CHEK1_uc009zbp.2_Missense_Mutation_p.R160H|CHEK1_uc001qcg.3_Missense_Mutation_p.R160H|CHEK1_uc009zbq.2_Missense_Mutation_p.R160H|CHEK1_uc001qci.1_RNA	0,1			possibly_damaging(0.778)	p.R160H	NM_001114122	NP_001107594		deleterious(0.01)	0,1	CHK1_HUMAN	CHEK1	HGNC	O14757	CHK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)	Q6W8P8_HUMAN,E9PRU7_HUMAN,E9PQW7_HUMAN,E9PM65_HUMAN,E9PKQ3_HUMAN,E9PJI4_HUMAN		6	1371	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	UPI000013DBA3	160			Protein kinase.		SNV	CHEK1,missense_variant,p.Arg160His,ENST00000534070,NM_001274.5;CHEK1,missense_variant,p.Arg160His,ENST00000438015,NM_001244846.1,NM_001114122.2;CHEK1,missense_variant,p.Arg160His,ENST00000428830,NM_001114121.2;CHEK1,missense_variant,p.Arg160His,ENST00000524737,;CHEK1,missense_variant,p.Arg160His,ENST00000278916,;CHEK1,missense_variant,p.Arg176His,ENST00000427383,;CHEK1,missense_variant,p.Arg160His,ENST00000544373,;CHEK1,missense_variant,p.Arg160His,ENST00000527013,;CHEK1,missense_variant,p.Arg81His,ENST00000532669,;CHEK1,missense_variant,p.Arg160His,ENST00000526937,;CHEK1,downstream_gene_variant,,ENST00000525396,;CHEK1,downstream_gene_variant,,ENST00000534685,;CHEK1,non_coding_transcript_exon_variant,,ENST00000532449,;CHEK1,non_coding_transcript_exon_variant,,ENST00000528761,;CHEK1,downstream_gene_variant,,ENST00000531607,;CHEK1,upstream_gene_variant,,ENST00000531062,;	uc009zbo.2	c.479G>A	538/1845	2	2			c.479G>A						11	SNP	c.(478-480)CGT>CAT	21	21		p.R160H(1)	central_nervous_system(3)|lung(2)|skin(1)	6	Broad	checkpoint kinase 1	Other_conserved_DNA_damage_response_genes		125503112		0.363	ENSG00000149554	3272	g.chr11:125503112G>A	cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			124			124	145.609393	KEEP	33	21	-1	49	53	33	21	-1	147.912627	49	53	0.362319	1	0	0	0	0	1	0	0	0	--	--		0	A			CHEK1_uc010sbh.1_Missense_Mutation_p.R176H|CHEK1_uc010sbi.1_Missense_Mutation_p.R160H|CHEK1_uc001qcf.3_Missense_Mutation_p.R160H|CHEK1_uc009zbp.2_Missense_Mutation_p.R160H|CHEK1_uc001qcg.3_Missense_Mutation_p.R160H|CHEK1_uc009zbq.2_Missense_Mutation_p.R160H|CHEK1_uc001qci.1_RNA	23	GBM-06-0145-TP	p.R160H	G	TATAATAATCGTGAGCGTTTG	NM_001114122	NP_001107594	125503112	O14757	CHK1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)	6	1371	+	A	A	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	Missense_Mutation	160			Protein kinase.			
CHEK1	0	broad.mit.edu	GRCh37	11	125503132	125503132	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-76-6191-01	TCGA-76-6191-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428830.2:c.499A>T	p.Met167Leu	p.M167L	ENST00000428830	NM_001114121.2	167	Atg/Ttg	0			1			T	M/L	uc009zbo.2	protein_coding		CCDS8459.1			499/1431									central_nervous_system(3)|lung(2)|skin(1)	6	c.(499-501)ATG>TTG		Other_conserved_DNA_damage_response_genes	PROSITE_profiles:PS50011,hmmpanther:PTHR24344,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	checkpoint kinase 1				ENSP00000412504		14-Jun										14-Jun	.		ENST00000428830	Transcript			cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	ENSG00000149554	g.chr11:125503132A>T	1925			MODERATE		-0.185	neutral	getma.org/?cm=msa&ty=f&p=CHK1_HUMAN&rb=9&re=265&var=M167L	getma.org/pdb.php?prot=CHK1_HUMAN&from=9&to=265&var=M167L	getma.org/?cm=var&var=hg19,11,125503132,A,T&fts=all	M167L	--	--	1																																		CHEK1_uc010sbh.1_Missense_Mutation_p.M183L|CHEK1_uc010sbi.1_Missense_Mutation_p.M167L|CHEK1_uc001qcf.3_Missense_Mutation_p.M167L|CHEK1_uc009zbp.2_Missense_Mutation_p.M167L|CHEK1_uc001qcg.3_Missense_Mutation_p.M167L|CHEK1_uc009zbq.2_Missense_Mutation_p.M167L|CHEK1_uc001qci.1_RNA				benign(0.002)	p.M167L	NM_001114122	NP_001107594		tolerated(0.28)		CHK1_HUMAN	CHEK1	HGNC	O14757	CHK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)	Q6W8P8_HUMAN,E9PRU7_HUMAN,E9PQW7_HUMAN,E9PM65_HUMAN,E9PKQ3_HUMAN,E9PJI4_HUMAN		6	1391	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	UPI000013DBA3	167			Protein kinase.		SNV	CHEK1,missense_variant,p.Met167Leu,ENST00000534070,NM_001274.5;CHEK1,missense_variant,p.Met167Leu,ENST00000438015,NM_001244846.1,NM_001114122.2;CHEK1,missense_variant,p.Met167Leu,ENST00000428830,NM_001114121.2;CHEK1,missense_variant,p.Met167Leu,ENST00000524737,;CHEK1,missense_variant,p.Met167Leu,ENST00000278916,;CHEK1,missense_variant,p.Met183Leu,ENST00000427383,;CHEK1,missense_variant,p.Met167Leu,ENST00000544373,;CHEK1,missense_variant,p.Met167Leu,ENST00000527013,;CHEK1,missense_variant,p.Met88Leu,ENST00000532669,;CHEK1,missense_variant,p.Met167Leu,ENST00000526937,;CHEK1,downstream_gene_variant,,ENST00000525396,;CHEK1,downstream_gene_variant,,ENST00000534685,;CHEK1,non_coding_transcript_exon_variant,,ENST00000532449,;CHEK1,non_coding_transcript_exon_variant,,ENST00000528761,;CHEK1,downstream_gene_variant,,ENST00000531607,;CHEK1,upstream_gene_variant,,ENST00000531062,;	uc009zbo.2	c.499A>T	558/1845	2	2			c.499A>T						11	SNP	c.(499-501)ATG>TTG	24	24			central_nervous_system(3)|lung(2)|skin(1)	6	Broad	checkpoint kinase 1	Other_conserved_DNA_damage_response_genes		125503132		0.378	ENSG00000149554	3272	g.chr11:125503132A>T	cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			124			124	111.893415	KEEP	22	17	-1	26	18	22	17	-1	111.964049	26	18	0.467532	1	0	0	0	0	1	0	0	0	--	--		0	T			CHEK1_uc010sbh.1_Missense_Mutation_p.M183L|CHEK1_uc010sbi.1_Missense_Mutation_p.M167L|CHEK1_uc001qcf.3_Missense_Mutation_p.M167L|CHEK1_uc009zbp.2_Missense_Mutation_p.M167L|CHEK1_uc001qcg.3_Missense_Mutation_p.M167L|CHEK1_uc009zbq.2_Missense_Mutation_p.M167L|CHEK1_uc001qci.1_RNA	274	GBM-76-6191-TP	p.M167L	A	GTTGAACAAGATGTGTGGTAC	NM_001114122	NP_001107594	125503132	O14757	CHK1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)	6	1391	+	T	T	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	Missense_Mutation	167			Protein kinase.			
CHEK2	11200	broad.mit.edu	GRCh37	22	29130518	29130518	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0745-01	TCGA-06-0745-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328354.6:c.192G>A	p.Glu64=	p.E64=	ENST00000328354	NM_007194.3	64	gaG/gaA	0			1			T	E	uc003adu.1	protein_coding		CCDS13843.1			192/1632	F			breast					central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20	c.(190-192)GAG>GAA		Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	hmmpanther:PTHR24344:SF21,hmmpanther:PTHR24344	protein kinase CHK2 isoform a				ENSP00000329178		15-Feb									COSM2151707,COSM3405572	15-Feb	.	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer	ENST00000328354	Transcript	1		cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	ENSG00000183765	g.chr22:29130518C>T	16627			LOW								--	--	1																																		CHEK2_uc003ads.1_5'UTR|CHEK2_uc010gvh.1_Silent_p.E64E|CHEK2_uc010gvi.1_Silent_p.E64E|CHEK2_uc010gvj.1_RNA|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Silent_p.E64E|CHEK2_uc003adv.1_Silent_p.E64E|CHEK2_uc003adw.1_Silent_p.E64E|CHEK2_uc003adx.1_5'UTR|CHEK2_uc003ady.1_Silent_p.E64E|CHEK2_uc003adz.1_5'UTR	1,1				p.E64E	NM_007194	NP_009125			1,1	CHK2_HUMAN	CHEK2	HGNC	O96017	CHK2_HUMAN			B7ZBF2_HUMAN		2	264	-			UPI00000316FF	64		E -> K (in prostate cancer; somatic mutation).			SNV	CHEK2,synonymous_variant,p.=,ENST00000382580,NM_001005735.1;CHEK2,synonymous_variant,p.=,ENST00000405598,;CHEK2,synonymous_variant,p.=,ENST00000328354,NM_007194.3;CHEK2,synonymous_variant,p.=,ENST00000382566,;CHEK2,synonymous_variant,p.=,ENST00000404276,;CHEK2,synonymous_variant,p.=,ENST00000348295,NM_145862.2;CHEK2,synonymous_variant,p.=,ENST00000382578,;CHEK2,synonymous_variant,p.=,ENST00000402731,;CHEK2,synonymous_variant,p.=,ENST00000403642,;CHEK2,synonymous_variant,p.=,ENST00000439200,;CHEK2,synonymous_variant,p.=,ENST00000447421,;CHEK2,synonymous_variant,p.=,ENST00000382565,;CHEK2,synonymous_variant,p.=,ENST00000398017,;CHEK2,5_prime_UTR_variant,,ENST00000544772,NM_001257387.1;CHEK2,intron_variant,,ENST00000425190,;CHEK2,synonymous_variant,p.=,ENST00000416671,;CHEK2,synonymous_variant,p.=,ENST00000433728,;CHEK2,synonymous_variant,p.=,ENST00000417588,;CHEK2,synonymous_variant,p.=,ENST00000448511,;CHEK2,synonymous_variant,p.=,ENST00000433028,;CHEK2,upstream_gene_variant,,ENST00000454252,;	uc003adu.1	c.192G>A	274/1867	1	1			c.192G>A	F			breast		22	SNP	c.(190-192)GAG>GAA	7	7			central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20	Broad	protein kinase CHK2 isoform a	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes		29130518	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer	0.567	ENSG00000183765	3273	g.chr22:29130518C>T	cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			268			268	159.385205	KEEP	39	28	-1	54	36	39	28	-1	160.444008	54	36	0.40458	1	0	0	0	0	0	0	1	0	--	--		0	T			CHEK2_uc003ads.1_5'UTR|CHEK2_uc010gvh.1_Silent_p.E64E|CHEK2_uc010gvi.1_Silent_p.E64E|CHEK2_uc010gvj.1_RNA|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Silent_p.E64E|CHEK2_uc003adv.1_Silent_p.E64E|CHEK2_uc003adw.1_Silent_p.E64E|CHEK2_uc003adx.1_5'UTR|CHEK2_uc003ady.1_Silent_p.E64E|CHEK2_uc003adz.1_5'UTR	67	GBM-06-0745-TP	p.E64E	C	TGGACACTGTCTCTAAGGAGC	NM_007194	NP_009125	29130518	O96017	CHK2_HUMAN	0			2	264	-	T	T			Silent	64		E -> K (in prostate cancer; somatic mutation).				
CHEK2	0	broad.mit.edu	GRCh37	22	29083951	29083951	+	synonymous_variant	Silent	SNP	G	G	A	rs142890589	by1000genomes	TCGA-41-2572-01	TCGA-41-2572-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328354.6:c.1566C>T	p.Pro522=	p.P522=	ENST00000328354	NM_007194.3	522	ccC/ccT	0			1			A	P	uc003adu.1	protein_coding		CCDS13843.1			1566/1632	F			breast		likely_benign			central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20	c.(1564-1566)CCC>CCT		Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	hmmpanther:PTHR24344:SF21,hmmpanther:PTHR24344	protein kinase CHK2 isoform a				ENSP00000329178		15/15	2.61E-05					3.32E-05			rs202104749,COSM1327287,COSM3748169	15/15	.	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer	ENST00000328354	Transcript	1		cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	ENSG00000183765	g.chr22:29083951G>A	16627			LOW								--	--	1																																		CHEK2_uc003ads.1_Silent_p.P301P|CHEK2_uc010gvh.1_Silent_p.P431P|CHEK2_uc010gvi.1_Silent_p.P371P|CHEK2_uc010gvj.1_RNA|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Silent_p.P565P|CHEK2_uc003adv.1_Silent_p.P493P|CHEK2_uc003adw.1_Silent_p.P522P|CHEK2_uc003adx.1_Silent_p.P301P|CHEK2_uc003ady.1_Silent_p.P511P|CHEK2_uc003adz.1_Silent_p.P326P	1,1,1				p.P522P	NM_007194	NP_009125			0,1,1	CHK2_HUMAN	CHEK2	HGNC	O96017	CHK2_HUMAN			B7ZBF2_HUMAN		15	1638	-			UPI00000316FF	522					SNV	CHEK2,synonymous_variant,p.=,ENST00000544772,NM_001257387.1;CHEK2,synonymous_variant,p.=,ENST00000382580,NM_001005735.1;CHEK2,synonymous_variant,p.=,ENST00000405598,;CHEK2,synonymous_variant,p.=,ENST00000328354,NM_007194.3;CHEK2,synonymous_variant,p.=,ENST00000404276,;CHEK2,synonymous_variant,p.=,ENST00000348295,NM_145862.2;CHEK2,synonymous_variant,p.=,ENST00000382578,;CHEK2,synonymous_variant,p.=,ENST00000402731,;CHEK2,synonymous_variant,p.=,ENST00000403642,;CHEK2,synonymous_variant,p.=,ENST00000434810,;CHEK2,synonymous_variant,p.=,ENST00000382565,;CHEK2,synonymous_variant,p.=,ENST00000456369,;CHEK2,3_prime_UTR_variant,,ENST00000382566,;CHEK2,3_prime_UTR_variant,,ENST00000416671,;CHEK2,3_prime_UTR_variant,,ENST00000433728,;CHEK2,3_prime_UTR_variant,,ENST00000417588,;CHEK2,3_prime_UTR_variant,,ENST00000448511,;CHEK2,non_coding_transcript_exon_variant,,ENST00000472807,;	uc003adu.1	c.1566C>T	1648/1867	2	2			c.1566C>T	F			breast		22	SNP	c.(1564-1566)CCC>CCT	28	28			central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20	Broad	protein kinase CHK2 isoform a	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes		29083951	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer	0.453	ENSG00000183765	3273	g.chr22:29083951G>A	cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			268			268	-9.23498	KEEP	0	3	-1	33	38	0	3	-1	6.457059	33	38	0.042857	1	0	0	0	0	0	0	1	0	--	--		0	A			CHEK2_uc003ads.1_Silent_p.P301P|CHEK2_uc010gvh.1_Silent_p.P431P|CHEK2_uc010gvi.1_Silent_p.P371P|CHEK2_uc010gvj.1_RNA|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Silent_p.P565P|CHEK2_uc003adv.1_Silent_p.P493P|CHEK2_uc003adw.1_Silent_p.P522P|CHEK2_uc003adx.1_Silent_p.P301P|CHEK2_uc003ady.1_Silent_p.P511P|CHEK2_uc003adz.1_Silent_p.P326P	251	GBM-41-2572-TP	p.P522P	G	CCCCTTCACGGGGCCGCTTTC	NM_007194	NP_009125	29083951	O96017	CHK2_HUMAN	0			15	1638	-	A	A			Silent	522						
CHEK2	0	broad.mit.edu	GRCh37	22	29083962	29083962	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs138839489	by1000genomes	TCGA-41-2572-01	TCGA-41-2572-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328354.6:c.1555C>G	p.Arg519Gly	p.R519G	ENST00000328354	NM_007194.3	519	Cga/Gga	0			1			C	R/G	uc003adu.1	protein_coding		CCDS13843.1			1555/1632	F			breast		pathogenic			central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20	c.(1555-1557)CGA>GGA		Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	hmmpanther:PTHR24344:SF21,hmmpanther:PTHR24344	protein kinase CHK2 isoform a				ENSP00000329178		15/15	2.62E-05					3.41E-05			rs200432447,COSM478842,COSM3748170	15/15	.	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer	ENST00000328354	Transcript	1		cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	ENSG00000183765	g.chr22:29083962G>C	16627			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=CHK2_HUMAN&rb=487&re=543&var=R519G	NA	getma.org/?cm=var&var=hg19,22,29083962,G,C&fts=all	R519G	--	--	1																																		CHEK2_uc003ads.1_Missense_Mutation_p.R298G|CHEK2_uc010gvh.1_Missense_Mutation_p.R428G|CHEK2_uc010gvi.1_Missense_Mutation_p.R368G|CHEK2_uc010gvj.1_RNA|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.R562G|CHEK2_uc003adv.1_Missense_Mutation_p.R490G|CHEK2_uc003adw.1_Missense_Mutation_p.R519G|CHEK2_uc003adx.1_Missense_Mutation_p.R298G|CHEK2_uc003ady.1_Missense_Mutation_p.R508G|CHEK2_uc003adz.1_Missense_Mutation_p.R323G	1,1,1			benign(0.01)	p.R519G	NM_007194	NP_009125		deleterious(0.02)	0,1,1	CHK2_HUMAN	CHEK2	HGNC	O96017	CHK2_HUMAN			B7ZBF2_HUMAN		15	1627	-			UPI00000316FF	519					SNV	CHEK2,missense_variant,p.Arg298Gly,ENST00000544772,NM_001257387.1;CHEK2,missense_variant,p.Arg562Gly,ENST00000382580,NM_001005735.1;CHEK2,missense_variant,p.Arg519Gly,ENST00000405598,;CHEK2,missense_variant,p.Arg519Gly,ENST00000328354,NM_007194.3;CHEK2,missense_variant,p.Arg519Gly,ENST00000404276,;CHEK2,missense_variant,p.Arg490Gly,ENST00000348295,NM_145862.2;CHEK2,missense_variant,p.Arg428Gly,ENST00000382578,;CHEK2,missense_variant,p.Arg490Gly,ENST00000402731,;CHEK2,missense_variant,p.Arg428Gly,ENST00000403642,;CHEK2,missense_variant,p.Arg252Gly,ENST00000434810,;CHEK2,missense_variant,p.Arg139Gly,ENST00000382565,;CHEK2,missense_variant,p.Arg120Gly,ENST00000456369,;CHEK2,3_prime_UTR_variant,,ENST00000382566,;CHEK2,3_prime_UTR_variant,,ENST00000416671,;CHEK2,3_prime_UTR_variant,,ENST00000433728,;CHEK2,3_prime_UTR_variant,,ENST00000417588,;CHEK2,3_prime_UTR_variant,,ENST00000448511,;CHEK2,non_coding_transcript_exon_variant,,ENST00000472807,;	uc003adu.1	c.1555C>G	1637/1867	4	4			c.1555C>G	F			breast		22	SNP	c.(1555-1557)CGA>GGA	35	35			central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20	Broad	protein kinase CHK2 isoform a	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes		29083962	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer	0.463	ENSG00000183765	3273	g.chr22:29083962G>C	cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			268			268	-6.823966	KEEP	0	3	-1	33	33	0	3	-1	8.013063	33	33	0.044776	1	0	0	0	0	1	0	0	0	--	--		0	C			CHEK2_uc003ads.1_Missense_Mutation_p.R298G|CHEK2_uc010gvh.1_Missense_Mutation_p.R428G|CHEK2_uc010gvi.1_Missense_Mutation_p.R368G|CHEK2_uc010gvj.1_RNA|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.R562G|CHEK2_uc003adv.1_Missense_Mutation_p.R490G|CHEK2_uc003adw.1_Missense_Mutation_p.R519G|CHEK2_uc003adx.1_Missense_Mutation_p.R298G|CHEK2_uc003ady.1_Missense_Mutation_p.R508G|CHEK2_uc003adz.1_Missense_Mutation_p.R323G	251	GBM-41-2572-TP	p.R519G	G	GGCCGCTTTCGACTAGTAGAA	NM_007194	NP_009125	29083962	O96017	CHK2_HUMAN	0			15	1627	-	C	C			Missense_Mutation	519						
CHEK2	11200		GRCh37	22	29091840	29091841	+	missense_variant	Missense_Mutation	DNP	TG	TG	CA			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000328354.6:c.1116_1117inv	p.Lys373Glu	p.K373E	ENST00000328354	NM_007194.3	372	tcCAag/tcTGag	0																																																																																																																																																																																																																																												
CHERP	0	broad.mit.edu	GRCh37	19	16640581	16640583	+	inframe_deletion	In_Frame_Del	DEL	TGC	TGC	-			TCGA-19-5958-01	TCGA-19-5958-01	TGC	TGC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000546361.2:c.1005_1007delGCA	p.Gln341del	p.Q341del	ENST00000546361	NM_006387.5	335	caGCAa/caa	0			1			-	QQ/Q	uc002nei.1	protein_coding	YES	CCDS42518.1			1005-1007/2751									ovary(2)	2	c.(1003-1008)CAGCAA>CAA			Low_complexity_(Seg):seg,hmmpanther:PTHR12323	calcium homeostasis endoplasmic reticulum				ENSP00000439856		17-Aug									rs762824932,COSM1724493	17-Aug	.		ENST00000546361	Transcript			cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	ENSG00000085872	g.chr19:16640581_16640583delTGC	16930			MODERATE								--	--	1																																		MED26_uc002nee.2_Intron	0,1	1			p.335_336QQ>Q	NM_006387	NP_006378			0,1	CHERP_HUMAN	CHERP	HGNC	Q8IWX8	CHERP_HUMAN					8	1079_1081	-			UPI00001AE5BE	335_336			Gln-rich.		deletion	CHERP,inframe_deletion,p.Gln341del,ENST00000546361,NM_006387.5;CHERP,inframe_deletion,p.Gln352del,ENST00000198939,;CHERP,upstream_gene_variant,,ENST00000544299,;CTD-3222D19.2,intron_variant,,ENST00000409035,;CHERP,downstream_gene_variant,,ENST00000546538,;	uc002nei.1	c.1005_1007delGCA	1157-1159/4173	5	5			c.1005_1007delGCA						19	DEL	c.(1003-1008)CAGCAA>CAA	30	30			ovary(2)	2	Broad	calcium homeostasis endoplasmic reticulum			16640583		0.552	ENSG00000085872	3274	g.chr19:16640581_16640583delTGC	cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding																				0.09	1	1	0	1	0	0	0	0	0	--	--		0	-			MED26_uc002nee.2_Intron	176	GBM-19-5958-TP	p.335_336QQ>Q	TGC	ctgctgctgttgctgctgctgct	NM_006387	NP_006378	16640581	Q8IWX8	CHERP_HUMAN	0			8	1079_1081	-	-	-			In_Frame_Del	335_336			Gln-rich.			
CHGB	1114	broad.mit.edu	GRCh37	20	5903619	5903619	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0184-01	TCGA-06-0184-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378961.4:c.829C>T	p.Arg277Ter	p.R277*	ENST00000378961	NM_001819.2	277	Cga/Tga	0		T:0	1	T:0		T	R/*	uc002wmg.2	protein_coding	YES	CCDS13092.1			829/2034									breast(3)|skin(2)|ovary(1)	6	c.(829-831)CGA>TGA			Pfam_domain:PF01271,hmmpanther:PTHR10583:SF3,hmmpanther:PTHR10583	chromogranin B precursor		T:0		ENSP00000368244	T:0	5-Apr	2.47E-05		0.000109			1.78E-05		6.60E-05	rs553869356,COSM444135	5-Apr	.		ENST00000378961	Transcript		T:0.0002		extracellular region	hormone activity	ENSG00000089199	g.chr20:5903619C>T	1930			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,20,5903619,C,T&fts=all	R277*	--	--	1																																		CHGB_uc010zqz.1_Translation_Start_Site	0,1	1			p.R277*	NM_001819	NP_001810	T:0.001		0,1	SCG1_HUMAN	CHGB	HGNC	P05060	SCG1_HUMAN					4	1135	+			UPI000013C63D	277					SNV	CHGB,stop_gained,p.Arg277Ter,ENST00000378961,NM_001819.2;CHGB,stop_gained,p.Arg257Ter,ENST00000455042,;CHGB,downstream_gene_variant,,ENST00000488832,;	uc002wmg.2	c.829C>T	1033/2550	5	1			c.829C>T						20	SNP	c.(829-831)CGA>TGA	7	7			breast(3)|skin(2)|ovary(1)	6	Broad	chromogranin B precursor			5903619		0.607	ENSG00000089199	3277	g.chr20:5903619C>T		extracellular region	hormone activity							26.637329	KEEP	5	5	-1	9	16	5	5	-1	27.639425	9	16	0.3125	1	0	0	0	0	0	1	0	0	--	--		0	T			CHGB_uc010zqz.1_Translation_Start_Site	39	GBM-06-0184-TP	p.R277*	C	GGTGGACAAACGACGCACGAG	NM_001819	NP_001810	5903619	P05060	SCG1_HUMAN	0			4	1135	+	T	T			Nonsense_Mutation	277						
CHGB	1114	broad.mit.edu	GRCh37	20	5904212	5904212	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0875-01	TCGA-06-0875-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378961.4:c.1422C>T	p.Tyr474=	p.Y474=	ENST00000378961	NM_001819.2	474	taC/taT	0			1			T	Y	uc002wmg.2	protein_coding	YES	CCDS13092.1			1422/2034									breast(3)|skin(2)|ovary(1)	6	c.(1420-1422)TAC>TAT			Pfam_domain:PF01271,hmmpanther:PTHR10583:SF3,hmmpanther:PTHR10583	chromogranin B precursor				ENSP00000368244		5-Apr	8.24E-06	9.83E-05							rs774814252,COSM2152052	5-Apr	.		ENST00000378961	Transcript				extracellular region	hormone activity	ENSG00000089199	g.chr20:5904212C>T	1930			LOW								--	--	1																																		CHGB_uc010zqz.1_Silent_p.Y157Y	0,1	1			p.Y474Y	NM_001819	NP_001810			0,1	SCG1_HUMAN	CHGB	HGNC	P05060	SCG1_HUMAN					4	1728	+			UPI000013C63D	474					SNV	CHGB,synonymous_variant,p.=,ENST00000378961,NM_001819.2;CHGB,downstream_gene_variant,,ENST00000455042,;RP5-967N21.2,downstream_gene_variant,,ENST00000400619,;	uc002wmg.2	c.1422C>T	1626/2550	2	2			c.1422C>T						20	SNP	c.(1420-1422)TAC>TAT	47	47			breast(3)|skin(2)|ovary(1)	6	Broad	chromogranin B precursor			5904212		0.507	ENSG00000089199	3277	g.chr20:5904212C>T		extracellular region	hormone activity							232.420732	KEEP	47	44	-1	47	68	47	44	-1	233.129143	47	68	0.432584	1	0	0	0	0	0	0	1	0	--	--		0	T			CHGB_uc010zqz.1_Silent_p.Y157Y	71	GBM-06-0875-TP	p.Y474Y	C	ATCTCAACTACGGTGAGGAAG	NM_001819	NP_001810	5904212	P05060	SCG1_HUMAN	0			4	1728	+	T	T			Silent	474						
CHGB	1114	broad.mit.edu	GRCh37	20	5903131	5903131	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01	TCGA-06-0878-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378961.4:c.341G>A	p.Gly114Asp	p.G114D	ENST00000378961	NM_001819.2	114	gGc/gAc	0			1			A	G/D	uc002wmg.2	protein_coding	YES	CCDS13092.1			341/2034									breast(3)|skin(2)|ovary(1)	6	c.(340-342)GGC>GAC			Pfam_domain:PF01271,hmmpanther:PTHR10583:SF3,hmmpanther:PTHR10583	chromogranin B precursor				ENSP00000368244		5-Apr	8.24E-06					1.55E-05			rs777454124,COSM2152220	5-Apr	.		ENST00000378961	Transcript				extracellular region	hormone activity	ENSG00000089199	g.chr20:5903131G>A	1930			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=SCG1_HUMAN&rb=26&re=677&var=G114D	NA	getma.org/?cm=var&var=hg19,20,5903131,G,A&fts=all	G114D	--	--	1																																		CHGB_uc010zqz.1_Intron	0,1	1		benign(0.014)	p.G114D	NM_001819	NP_001810		tolerated(0.59)	0,1	SCG1_HUMAN	CHGB	HGNC	P05060	SCG1_HUMAN					4	647	+			UPI000013C63D	114					SNV	CHGB,missense_variant,p.Gly114Asp,ENST00000378961,NM_001819.2;CHGB,missense_variant,p.Gly94Asp,ENST00000455042,;CHGB,downstream_gene_variant,,ENST00000488832,;	uc002wmg.2	c.341G>A	545/2550	2	2			c.341G>A						20	SNP	c.(340-342)GGC>GAC	21	21			breast(3)|skin(2)|ovary(1)	6	Broad	chromogranin B precursor			5903131		0.607	ENSG00000089199	3277	g.chr20:5903131G>A		extracellular region	hormone activity							41.687852	KEEP	9	9	-1	14	20	9	9	-1	42.993423	14	20	0.326531	1	0	0	0	0	1	0	0	0	--	--		0	A			CHGB_uc010zqz.1_Intron	74	GBM-06-0878-TP	p.G114D	G	GACATCCAAGGCCCAACAAAG	NM_001819	NP_001810	5903131	P05060	SCG1_HUMAN	0			4	647	+	A	A			Missense_Mutation	114						
CHGB	0	broad.mit.edu	GRCh37	20	5903871	5903871	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs144051265		TCGA-19-5959-01	TCGA-19-5959-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378961.4:c.1081C>T	p.Arg361Cys	p.R361C	ENST00000378961	NM_001819.2	361	Cgc/Tgc	0	T:0		1			T	R/C	uc002wmg.2	protein_coding	YES	CCDS13092.1			1081/2034									breast(3)|skin(2)|ovary(1)	6	c.(1081-1083)CGC>TGC			Pfam_domain:PF01271,hmmpanther:PTHR10583:SF3,hmmpanther:PTHR10583,Low_complexity_(Seg):seg	chromogranin B precursor			T:0.0002	ENSP00000368244		5-Apr	6.59E-05				0.000454	7.52E-05			rs144051265,COSM3405239	5-Apr	common_variant		ENST00000378961	Transcript				extracellular region	hormone activity	ENSG00000089199	g.chr20:5903871C>T	1930			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=SCG1_HUMAN&rb=26&re=677&var=R361C	NA	getma.org/?cm=var&var=hg19,20,5903871,C,T&fts=all	R361C	--	--	1																																		CHGB_uc010zqz.1_Missense_Mutation_p.R44C	0,1	1		probably_damaging(0.939)	p.R361C	NM_001819	NP_001810		deleterious(0)	0,1	SCG1_HUMAN	CHGB	HGNC	P05060	SCG1_HUMAN					4	1387	+			UPI000013C63D	361					SNV	CHGB,missense_variant,p.Arg361Cys,ENST00000378961,NM_001819.2;CHGB,downstream_gene_variant,,ENST00000455042,;RP5-967N21.2,downstream_gene_variant,,ENST00000400619,;	uc002wmg.2	c.1081C>T	1285/2550	2	2			c.1081C>T						20	SNP	c.(1081-1083)CGC>TGC	18	18			breast(3)|skin(2)|ovary(1)	6	Broad	chromogranin B precursor			5903871		0.527	ENSG00000089199	3277	g.chr20:5903871C>T		extracellular region	hormone activity							105.12906	KEEP	22	23	-1	61	67	22	23	-1	112.108841	61	67	0.278481	1	0	0	0	0	1	0	0	0	--	--		0	T			CHGB_uc010zqz.1_Missense_Mutation_p.R44C	177	GBM-19-5959-TP	p.R361C	C	GGAGTGGGAGCGCTATAGGGG	NM_001819	NP_001810	5903871	P05060	SCG1_HUMAN	0			4	1387	+	T	T			Missense_Mutation	361						
CHGB	1114		GRCh37	20	5904558	5904558	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000378961.4:c.1768G>A	p.Ala590Thr	p.A590T	ENST00000378961	NM_001819.2	590	Gcc/Acc	0																																																																																																																																																																																																																																												
CHID1	0	broad.mit.edu	GRCh37	11	902312	902312	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2528-01	TCGA-27-2528-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323578.8:c.280G>A	p.Asp94Asn	p.D94N	ENST00000323578	NM_023947.3	94	Gat/Aat	0	T:0		1			T	D/N	uc001lsl.2	protein_coding		CCDS7722.1			280/1182										0	c.(280-282)GAT>AAT			hmmpanther:PTHR11177,Gene3D:3.20.20.80,Pfam_domain:PF00704,SMART_domains:SM00636,Superfamily_domains:SSF51445	chitinase domain containing 1 isoform a			T:0.0001	ENSP00000325055		13-Apr	8.24E-06					1.51E-05			rs373864240,COSM1248237,COSM3398190	13-Apr	.		ENST00000323578	Transcript			chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity	ENSG00000177830	g.chr11:902312C>T	28474			MODERATE		2.085	medium	getma.org/?cm=msa&ty=f&p=CHID1_HUMAN&rb=79&re=385&var=D94N	getma.org/pdb.php?prot=CHID1_HUMAN&from=79&to=385&var=D94N	getma.org/?cm=var&var=hg19,11,902312,C,T&fts=all	D94N	--	--	1																																		CHID1_uc010qwu.1_Missense_Mutation_p.D124N|CHID1_uc010qwv.1_Missense_Mutation_p.D155N|CHID1_uc001lsn.2_Missense_Mutation_p.D119N|CHID1_uc001lsm.2_Missense_Mutation_p.D94N|CHID1_uc001lso.2_Missense_Mutation_p.D94N|CHID1_uc001lsp.2_Missense_Mutation_p.D94N|CHID1_uc010qww.1_Missense_Mutation_p.D94N	0,1,1			benign(0.036)	p.D94N	NM_023947	NP_076436		deleterious(0.04)	0,1,1	CHID1_HUMAN	CHID1	HGNC	Q9BWS9	CHID1_HUMAN		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)	H0YDL6_HUMAN,E9PRL3_HUMAN,E9PKF1_HUMAN,E9PJL0_HUMAN,E9PIP0_HUMAN,E9PI70_HUMAN		4	441	-		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	UPI0000035DEF	94					SNV	CHID1,missense_variant,p.Asp94Asn,ENST00000449825,NM_001142675.1;CHID1,missense_variant,p.Asp94Asn,ENST00000323578,NM_023947.3;CHID1,missense_variant,p.Asp119Asn,ENST00000454838,NM_001142676.1;CHID1,missense_variant,p.Asp124Asn,ENST00000323541,;CHID1,missense_variant,p.Asp119Asn,ENST00000336845,;CHID1,missense_variant,p.Asp94Asn,ENST00000436108,NM_001142674.1;CHID1,missense_variant,p.Asp119Asn,ENST00000528581,;CHID1,missense_variant,p.Asp94Asn,ENST00000429789,NM_001142677.1;CHID1,missense_variant,p.Asp94Asn,ENST00000531859,;CHID1,missense_variant,p.Asp94Asn,ENST00000533056,;CHID1,missense_variant,p.Asp94Asn,ENST00000533059,;CHID1,missense_variant,p.Asp94Asn,ENST00000530939,;CHID1,downstream_gene_variant,,ENST00000528154,;CHID1,downstream_gene_variant,,ENST00000525225,;CHID1,downstream_gene_variant,,ENST00000525840,;CHID1,non_coding_transcript_exon_variant,,ENST00000526714,;CHID1,non_coding_transcript_exon_variant,,ENST00000524832,;CHID1,missense_variant,p.Asp94Asn,ENST00000534254,;CHID1,3_prime_UTR_variant,,ENST00000528426,;	uc001lsl.2	c.280G>A	1010/3374	2	2			c.280G>A						11	SNP	c.(280-282)GAT>AAT	32	32				0	Broad	chitinase domain containing 1 isoform a			902312		0.562	ENSG00000177830	3282	g.chr11:902312C>T	chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity	Pancreas(117;992 2327 5172 41921)			Pancreas(117;992 2327 5172 41921)			75.100542	KEEP	20	16	-1	27	41	20	16	-1	77.477076	27	41	0.321429	1	0	0	0	0	1	0	0	0	--	--		0	T			CHID1_uc010qwu.1_Missense_Mutation_p.D124N|CHID1_uc010qwv.1_Missense_Mutation_p.D155N|CHID1_uc001lsn.2_Missense_Mutation_p.D119N|CHID1_uc001lsm.2_Missense_Mutation_p.D94N|CHID1_uc001lso.2_Missense_Mutation_p.D94N|CHID1_uc001lsp.2_Missense_Mutation_p.D94N|CHID1_uc010qww.1_Missense_Mutation_p.D94N	205	GBM-27-2528-TP	p.D94N	C	TTGGTGACATCGTAGCCATGG	NM_023947	NP_076436	902312	Q9BWS9	CHID1_HUMAN	0		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)	4	441	-	T	T		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	Missense_Mutation	94						
CHL1	10752	broad.mit.edu	GRCh37	3	383663	383663	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0132-01	TCGA-06-0132-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256509.2:c.577G>A	p.Val193Met	p.V193M	ENST00000256509	NM_001253388.1	193	Gtg/Atg	0			1			A	V/M	uc003bou.2	protein_coding		CCDS58812.1			577/3627									skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12	c.(577-579)GTG>ATG			Superfamily_domains:SSF48726,SMART_domains:SM00409,Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF122,PROSITE_profiles:PS50835	cell adhesion molecule with homology to L1CAM				ENSP00000380628		27-Jul	8.24E-06							6.28E-05	rs751043648,COSM3408636	27-Jul	.		ENST00000397491	Transcript	1		axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		ENSG00000134121	g.chr3:383663G>A	1939			MODERATE		2.795	medium	getma.org/?cm=msa&ty=f&p=CHL1_HUMAN&rb=128&re=223&var=V193M	getma.org/pdb.php?prot=CHL1_HUMAN&from=128&to=223&var=V193M	getma.org/?cm=var&var=hg19,3,383663,G,A&fts=all	V193M	--	--	1																																		CHL1_uc003bot.2_Missense_Mutation_p.V193M|CHL1_uc003bow.1_Missense_Mutation_p.V193M|CHL1_uc011asi.1_Missense_Mutation_p.V193M	0,1			probably_damaging(0.999)	p.V193M	NM_006614	NP_006605		deleterious(0.01)	0,1	CHL1_HUMAN	CHL1	HGNC	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	C9JW79_HUMAN,C9JH37_HUMAN,C9JEY3_HUMAN,C9J905_HUMAN		7	848	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	UPI0000E08093	193			Ig-like C2-type 2.|Extracellular (Potential).		SNV	CHL1,missense_variant,p.Val193Met,ENST00000256509,NM_001253388.1,NM_006614.3,NM_001253387.1;CHL1,missense_variant,p.Val193Met,ENST00000397491,;CHL1,downstream_gene_variant,,ENST00000435603,;CHL1,3_prime_UTR_variant,,ENST00000453040,;	uc003bou.2	c.577G>A	1044/5235	2	2			c.577G>A						3	SNP	c.(577-579)GTG>ATG	47	47			skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12	Broad	cell adhesion molecule with homology to L1CAM			383663		0.383	ENSG00000134121	3286	g.chr3:383663G>A	axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				659			659	19.076385	KEEP	7	5	-1	28	40	7	5	-1	27.384102	28	40	0.152778	1	0	0	0	0	1	0	0	0	--	--		0	A			CHL1_uc003bot.2_Missense_Mutation_p.V193M|CHL1_uc003bow.1_Missense_Mutation_p.V193M|CHL1_uc011asi.1_Missense_Mutation_p.V193M	17	GBM-06-0132-TP	p.V193M	G	CTTCGCAAACGTGGAAGAAAA	NM_006614	NP_006605	383663	O00533	CHL1_HUMAN	0		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	7	848	+	A	A		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	Missense_Mutation	193			Ig-like C2-type 2.|Extracellular (Potential).			
CHL1	0	broad.mit.edu	GRCh37	3	405060	405060	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-14-0789-01	TCGA-14-0789-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397491.2:c.1531A>T	p.Ile511Phe	p.I511F	ENST00000397491		511	Att/Ttt	0			1			T	I/F	uc003bou.2	protein_coding		CCDS58812.1			1531/3627									skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12	c.(1531-1533)ATT>TTT			Superfamily_domains:SSF48726,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF122	cell adhesion molecule with homology to L1CAM				ENSP00000380628		13/27									COSM3408662	13/27	.		ENST00000397491	Transcript	1		axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		ENSG00000134121	g.chr3:405060A>T	1939			MODERATE		2.81	medium	getma.org/?cm=msa&ty=f&p=CHL1_HUMAN&rb=423&re=511&var=I511F	getma.org/pdb.php?prot=CHL1_HUMAN&from=423&to=511&var=I511F	getma.org/?cm=var&var=hg19,3,405060,A,T&fts=all	I511F	--	--	1																																		CHL1_uc003bot.2_Missense_Mutation_p.I527F|CHL1_uc003bow.1_Missense_Mutation_p.I511F|CHL1_uc011asi.1_Missense_Mutation_p.I527F|uc003box.1_RNA	1			probably_damaging(0.965)	p.I511F	NM_006614	NP_006605		deleterious(0)	1	CHL1_HUMAN	CHL1	HGNC	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	C9JW79_HUMAN,C9JH37_HUMAN,C9JEY3_HUMAN,C9J905_HUMAN		13	1802	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	UPI0000E08093	511			Extracellular (Potential).		SNV	CHL1,missense_variant,p.Ile527Phe,ENST00000256509,NM_001253388.1,NM_006614.3,NM_001253387.1;CHL1,missense_variant,p.Ile511Phe,ENST00000397491,;CHL1-AS1,non_coding_transcript_exon_variant,,ENST00000417612,;CHL1-AS1,downstream_gene_variant,,ENST00000608098,;CHL1,non_coding_transcript_exon_variant,,ENST00000471332,;CHL1,3_prime_UTR_variant,,ENST00000453040,;	uc003bou.2	c.1531A>T	1998/5235	2	2			c.1531A>T						3	SNP	c.(1531-1533)ATT>TTT	48	48			skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12	Broad	cell adhesion molecule with homology to L1CAM			405060		0.378	ENSG00000134121	3286	g.chr3:405060A>T	axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				659			659	77.919139	KEEP	20	15	-1	57	49	20	15	-1	85.401338	57	49	0.239669	1	0	0	0	0	1	0	0	0	--	--		0	T			CHL1_uc003bot.2_Missense_Mutation_p.I527F|CHL1_uc003bow.1_Missense_Mutation_p.I511F|CHL1_uc011asi.1_Missense_Mutation_p.I527F|uc003box.1_RNA	136	GBM-14-0789-TP	p.I511F	A	CAATTTGGATATTAGAAGTAT	NM_006614	NP_006605	405060	O00533	CHL1_HUMAN	0		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	13	1802	+	T	T		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	Missense_Mutation	511			Extracellular (Potential).			
CHL1	0	broad.mit.edu	GRCh37	3	424158	424158	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T			TCGA-14-0813-01	TCGA-14-0813-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397491.2:c.1932G>T	p.Glu644Asp	p.E644D	ENST00000397491		644	gaG/gaT	0			1			T	E/D	uc003bou.2	protein_coding		CCDS58812.1			1932/3627									skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12	c.(1930-1932)GAG>GAT			Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF122,PROSITE_profiles:PS50853	cell adhesion molecule with homology to L1CAM				ENSP00000380628		17/27									COSM2154692	17/27	.		ENST00000397491	Transcript	1		axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		ENSG00000134121	g.chr3:424158G>T	1939			MODERATE		1.725	low	getma.org/?cm=msa&ty=f&p=CHL1_HUMAN&rb=613&re=698&var=E644D	getma.org/pdb.php?prot=CHL1_HUMAN&from=613&to=698&var=E644D	getma.org/?cm=var&var=hg19,3,424158,G,T&fts=all	E644D	--	--	1																																		CHL1_uc003bot.2_Missense_Mutation_p.E660D|CHL1_uc003bow.1_Missense_Mutation_p.E644D|CHL1_uc011asi.1_Missense_Mutation_p.E660D|uc003box.1_Intron	1			benign(0.11)	p.E644D	NM_006614	NP_006605		deleterious(0.05)	1	CHL1_HUMAN	CHL1	HGNC	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	C9JW79_HUMAN,C9JH37_HUMAN,C9JEY3_HUMAN,C9J905_HUMAN		17	2203	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	UPI0000E08093	644			Fibronectin type-III 1.|Extracellular (Potential).		SNV	CHL1,missense_variant,p.Glu660Asp,ENST00000256509,NM_001253388.1,NM_006614.3,NM_001253387.1;CHL1,missense_variant,p.Glu644Asp,ENST00000397491,;CHL1-AS1,intron_variant,,ENST00000417612,;CHL1,splice_region_variant,,ENST00000470005,;CHL1,splice_region_variant,,ENST00000470880,;CHL1,splice_region_variant,,ENST00000453040,;	uc003bou.2	c.1932G>T	2399/5235	2	2			c.1932G>T						3	SNP	c.(1930-1932)GAG>GAT	25	25			skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12	Broad	cell adhesion molecule with homology to L1CAM			424158		0.338	ENSG00000134121	3286	g.chr3:424158G>T	axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix			p.E660D(DKMG-Tumor)	659		p.E660D(DKMG-Tumor)	659	141.144953	KEEP	28	30	0.482758621	85	78	28	30	0.482758621	150.538909	85	78	0.271357	1	0	0	0	0	1	0	0	0	--	--		0	T			CHL1_uc003bot.2_Missense_Mutation_p.E660D|CHL1_uc003bow.1_Missense_Mutation_p.E644D|CHL1_uc011asi.1_Missense_Mutation_p.E660D|uc003box.1_Intron	138	GBM-14-0813-TP	p.E644D	G	TACTACCAGAGTATATTGTTG	NM_006614	NP_006605	424158	O00533	CHL1_HUMAN	0		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	17	2203	+	T	T		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	Missense_Mutation	644			Fibronectin type-III 1.|Extracellular (Potential).			
CHL1	0	broad.mit.edu	GRCh37	3	440026	440026	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-26-5139-01	TCGA-26-5139-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397491.2:c.3163A>T	p.Asn1055Tyr	p.N1055Y	ENST00000397491		1055	Aat/Tat	0			1			T	N/Y	uc003bou.2	protein_coding		CCDS58812.1			3163/3627									skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12	c.(3163-3165)AAT>TAT			hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF122	cell adhesion molecule with homology to L1CAM				ENSP00000380628		24/27									COSM2157169	24/27	.		ENST00000397491	Transcript	1		axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		ENSG00000134121	g.chr3:440026A>T	1939			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=CHL1_HUMAN&rb=1006&re=1075&var=N1055Y	NA	getma.org/?cm=var&var=hg19,3,440026,A,T&fts=all	N1055Y	--	--	1																																		CHL1_uc003bot.2_Missense_Mutation_p.N1071Y|CHL1_uc003bow.1_Missense_Mutation_p.N1055Y|CHL1_uc011asi.1_Intron	1			probably_damaging(0.95)	p.N1055Y	NM_006614	NP_006605		deleterious(0)	1	CHL1_HUMAN	CHL1	HGNC	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	C9JW79_HUMAN,C9JH37_HUMAN,C9JEY3_HUMAN,C9J905_HUMAN		24	3434	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	UPI0000E08093	1055			Extracellular (Potential).		SNV	CHL1,missense_variant,p.Asn1071Tyr,ENST00000256509,NM_001253388.1,NM_006614.3,NM_001253387.1;CHL1,missense_variant,p.Asn1055Tyr,ENST00000397491,;CHL1,intron_variant,,ENST00000445697,;CHL1,3_prime_UTR_variant,,ENST00000453040,;	uc003bou.2	c.3163A>T	3630/5235	1	1			c.3163A>T						3	SNP	c.(3163-3165)AAT>TAT	12	12			skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12	Broad	cell adhesion molecule with homology to L1CAM			440026		0.383	ENSG00000134121	3286	g.chr3:440026A>T	axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				659			659	132.791881	KEEP	26	44	-1	69	57	26	44	-1	137.197662	69	57	0.331429	1	0	0	0	0	1	0	0	0	--	--		0	T			CHL1_uc003bot.2_Missense_Mutation_p.N1071Y|CHL1_uc003bow.1_Missense_Mutation_p.N1055Y|CHL1_uc011asi.1_Intron	186	GBM-26-5139-TP	p.N1055Y	A	TTGGGGCGATAATGATAGCAT	NM_006614	NP_006605	440026	O00533	CHL1_HUMAN	0		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	24	3434	+	T	T		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	Missense_Mutation	1055			Extracellular (Potential).			
CHM	1121	broad.mit.edu	GRCh37	X	85218739	85218739	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0745-01	TCGA-06-0745-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357749.2:c.633G>T	p.Lys211Asn	p.K211N	ENST00000357749	NM_000390.2	211	aaG/aaT	0			1			A	K/N	uc004eet.2	protein_coding	YES	CCDS14454.1			633/1962									ovary(1)	1	c.(631-633)AAG>AAT			hmmpanther:PTHR11787,hmmpanther:PTHR11787:SF7,Gene3D:3.30.519.10,PIRSF_domain:PIRSF016550,Superfamily_domains:SSF51905	choroideremia isoform a				ENSP00000350386		15-May									COSM1126155	15-May	.		ENST00000357749	Transcript	1		intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	ENSG00000188419	g.chrX:85218739C>A	1940			MODERATE		1.555	low	getma.org/?cm=msa&ty=f&p=RAE1_HUMAN&rb=200&re=549&var=K211N	getma.org/pdb.php?prot=RAE1_HUMAN&from=200&to=549&var=K211N	getma.org/?cm=var&var=hg19,X,85218739,C,A&fts=all	K211N	--	--	1																																		CHM_uc011mqz.1_Missense_Mutation_p.K63N	1	1		possibly_damaging(0.812)	p.K211N	NM_000390	NP_000381		deleterious(0.02)	1	RAE1_HUMAN	CHM	HGNC	P24386	RAE1_HUMAN			B4DRL9_HUMAN		5	663	-		all_lung(315;5.41e-06)	UPI0000049C8C	211					SNV	CHM,missense_variant,p.Lys211Asn,ENST00000357749,NM_000390.2;CHM,missense_variant,p.Lys63Asn,ENST00000537751,;CHM,intron_variant,,ENST00000467744,;	uc004eet.2	c.633G>T	663/5442	1	1			c.633G>T						23	SNP	c.(631-633)AAG>AAT	61	61			ovary(1)	1	Broad	choroideremia isoform a			85218739		0.333	ENSG00000188419	3287	g.chrX:85218739C>A	intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity							246.22223	KEEP	57	27	0.321428571	11	5	57	27	0.321428571	256.568819	11	5	0.840426	1	0	0	0	0	1	0	0	0	--	--		0	A			CHM_uc011mqz.1_Missense_Mutation_p.K63N	67	GBM-06-0745-TP	p.K211N	C	TTCTGTTTTTCTTTGGTTGCT	NM_000390	NP_000381	85218739	P24386	RAE1_HUMAN	0			5	663	-	A	A		all_lung(315;5.41e-06)	Missense_Mutation	211						
CHM	0	broad.mit.edu	GRCh37	X	85156121	85156121	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-26-6174-01	TCGA-26-6174-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357749.2:c.1317T>A	p.Phe439Leu	p.F439L	ENST00000357749	NM_000390.2	439	ttT/ttA	0			1			T	F/L	uc004eet.2	protein_coding	YES	CCDS14454.1			1317/1962									ovary(1)	1	c.(1315-1317)TTT>TTA			hmmpanther:PTHR11787,hmmpanther:PTHR11787:SF7,Pfam_domain:PF00996,Gene3D:3.50.50.60,PIRSF_domain:PIRSF016550,Superfamily_domains:SSF51905	choroideremia isoform a				ENSP00000350386		15-Oct									COSM3406645	15-Oct	.		ENST00000357749	Transcript	1		intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	ENSG00000188419	g.chrX:85156121A>T	1940			MODERATE		-1.755	neutral	getma.org/?cm=msa&ty=f&p=RAE1_HUMAN&rb=200&re=549&var=F439L	getma.org/pdb.php?prot=RAE1_HUMAN&from=200&to=549&var=F439L	getma.org/?cm=var&var=hg19,X,85156121,A,T&fts=all	F439L	--	--	1																																		CHM_uc011mqz.1_Missense_Mutation_p.F291L	1	1		benign(0.006)	p.F439L	NM_000390	NP_000381		tolerated(1)	1	RAE1_HUMAN	CHM	HGNC	P24386	RAE1_HUMAN			B4DRL9_HUMAN		10	1347	-		all_lung(315;5.41e-06)	UPI0000049C8C	439					SNV	CHM,missense_variant,p.Phe439Leu,ENST00000357749,NM_000390.2;CHM,missense_variant,p.Phe291Leu,ENST00000537751,;MIR361,downstream_gene_variant,,ENST00000362181,;CHM,intron_variant,,ENST00000467744,;	uc004eet.2	c.1317T>A	1347/5442	1	1			c.1317T>A						23	SNP	c.(1315-1317)TTT>TTA	10	10			ovary(1)	1	Broad	choroideremia isoform a			85156121		0.393	ENSG00000188419	3287	g.chrX:85156121A>T	intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity							4.812131	KEEP	2	1	-1	10	13	2	1	-1	7.160971	10	13	0.15	1	0	0	0	0	1	0	0	0	--	--		0	T			CHM_uc011mqz.1_Missense_Mutation_p.F291L	188	GBM-26-6174-TP	p.F439L	A	TGTTCTCAGGAAAGTAACTGT	NM_000390	NP_000381	85156121	P24386	RAE1_HUMAN	0			10	1347	-	T	T		all_lung(315;5.41e-06)	Missense_Mutation	439						
CHML	1122		GRCh37	1	241797187	241797187	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000366553.1:c.1882C>T	p.Pro628Ser	p.P628S	ENST00000366553	NM_001821.3	628	Cct/Tct	0																																																																																																																																																																																																																																												
CHN2	0	broad.mit.edu	GRCh37	7	29438049	29438049	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-5215-01	TCGA-28-5215-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222792.6:c.237C>T	p.Ala79=	p.A79=	ENST00000222792	NM_004067.2	79	gcC/gcT	0			1			T	A	uc003szz.2	protein_coding	YES	CCDS5420.1			237/1407									ovary(2)	2	c.(235-237)GCC>GCT			Gene3D:3.30.505.10,Pfam_domain:PF00017,PIRSF_domain:PIRSF038015,PROSITE_profiles:PS50001,hmmpanther:PTHR23178,hmmpanther:PTHR23178:SF7,SMART_domains:SM00252,Superfamily_domains:SSF55550	beta chimerin isoform 2				ENSP00000222792		13-May									COSM3411963,COSM3411964	13-May	.		ENST00000222792	Transcript			regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	ENSG00000106069	g.chr7:29438049C>T	1944			LOW								--	--	1																																		CHN2_uc011jzs.1_Silent_p.A154A|CHN2_uc010kva.2_Intron|CHN2_uc010kvb.2_Intron|CHN2_uc010kvc.2_Silent_p.A44A|CHN2_uc011jzt.1_Silent_p.A92A|CHN2_uc010kvd.2_Intron|CHN2_uc011jzu.1_Silent_p.A64A	1,1	1			p.A79A	NM_004067	NP_004058			1,1	CHIO_HUMAN	CHN2	HGNC	P52757	CHIO_HUMAN			A4D1A2_HUMAN		5	674	+			UPI000012781F	79			SH2.		SNV	CHN2,synonymous_variant,p.=,ENST00000222792,NM_004067.2;CHN2,synonymous_variant,p.=,ENST00000435288,;CHN2,synonymous_variant,p.=,ENST00000546235,;CHN2,synonymous_variant,p.=,ENST00000539406,;CHN2,synonymous_variant,p.=,ENST00000495789,;CHN2,synonymous_variant,p.=,ENST00000439384,;CHN2,synonymous_variant,p.=,ENST00000409350,;CHN2,intron_variant,,ENST00000539389,;CHN2,upstream_gene_variant,,ENST00000446446,;CHN2,non_coding_transcript_exon_variant,,ENST00000409922,;CHN2,non_coding_transcript_exon_variant,,ENST00000412536,;CHN2,non_coding_transcript_exon_variant,,ENST00000409964,;CHN2,non_coding_transcript_exon_variant,,ENST00000482820,;CHN2,non_coding_transcript_exon_variant,,ENST00000478128,;CHN2,missense_variant,p.Pro113Leu,ENST00000474070,;CHN2,non_coding_transcript_exon_variant,,ENST00000491856,;	uc003szz.2	c.237C>T	767/3530	2	2			c.237C>T						7	SNP	c.(235-237)GCC>GCT	44	44			ovary(2)	2	Broad	beta chimerin isoform 2			29438049		0.522	ENSG00000106069	3300	g.chr7:29438049C>T	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	Ovarian(1;44 48 13232 18918 31480)			Ovarian(1;44 48 13232 18918 31480)			330.068331	KEEP	57	73	-1	138	115	57	73	-1	337.790541	138	115	0.338323	1	0	0	0	0	0	0	1	0	--	--		0	T			CHN2_uc011jzs.1_Silent_p.A154A|CHN2_uc010kva.2_Intron|CHN2_uc010kvb.2_Intron|CHN2_uc010kvc.2_Silent_p.A44A|CHN2_uc011jzt.1_Silent_p.A92A|CHN2_uc010kvd.2_Intron|CHN2_uc011jzu.1_Silent_p.A64A	222	GBM-28-5215-TP	p.A79A	C	TGGAGGGTGCCTACATCCTTA	NM_004067	NP_004058	29438049	P52757	CHIO_HUMAN	0			5	674	+	T	T			Silent	79			SH2.			
CHN2	0	broad.mit.edu	GRCh37	7	29539600	29539600	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-32-2632-01	TCGA-32-2632-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222792.6:c.857A>C	p.His286Pro	p.H286P	ENST00000222792	NM_004067.2	286	cAc/cCc	0			1			C	H/P	uc003szz.2	protein_coding	YES	CCDS5420.1			857/1407									ovary(2)	2	c.(856-858)CAC>CCC			Gene3D:1.10.555.10,PIRSF_domain:PIRSF038015,PROSITE_profiles:PS50238,hmmpanther:PTHR23178,hmmpanther:PTHR23178:SF7,Superfamily_domains:SSF48350	beta chimerin isoform 2				ENSP00000222792		13-Sep									COSM3411966,COSM3411967,COSM3411968	13-Sep	.		ENST00000222792	Transcript			regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	ENSG00000106069	g.chr7:29539600A>C	1944			MODERATE		2.35	medium	getma.org/?cm=msa&ty=f&p=CHIO_HUMAN&rb=277&re=468&var=H286P	getma.org/pdb.php?prot=CHIO_HUMAN&from=277&to=468&var=H286P	getma.org/?cm=var&var=hg19,7,29539600,A,C&fts=all	H286P	--	--	1																																		CHN2_uc011jzs.1_Missense_Mutation_p.H361P|CHN2_uc010kva.2_Missense_Mutation_p.H56P|CHN2_uc010kvb.2_Intron|CHN2_uc010kvc.2_Missense_Mutation_p.H251P|CHN2_uc011jzt.1_Missense_Mutation_p.H299P|CHN2_uc010kvd.2_Missense_Mutation_p.H142P|CHN2_uc011jzu.1_Missense_Mutation_p.H271P|CHN2_uc010kvg.2_Missense_Mutation_p.H150P|CHN2_uc010kvh.2_Intron|CHN2_uc010kvi.2_Missense_Mutation_p.H150P|CHN2_uc010kve.2_Missense_Mutation_p.H150P|CHN2_uc003taa.2_Missense_Mutation_p.H150P|CHN2_uc010kvf.2_Intron|CHN2_uc010kvj.2_Missense_Mutation_p.H105P|CHN2_uc010kvk.2_Intron|CHN2_uc010kvl.2_RNA|CHN2_uc010kvm.2_Missense_Mutation_p.H105P|CHN2_uc011jzv.1_Missense_Mutation_p.H79P	1,1,1	1		probably_damaging(0.986)	p.H286P	NM_004067	NP_004058		deleterious(0)	1,1,1	CHIO_HUMAN	CHN2	HGNC	P52757	CHIO_HUMAN			A4D1A2_HUMAN		9	1294	+			UPI000012781F	286			Rho-GAP.		SNV	CHN2,missense_variant,p.His286Pro,ENST00000222792,NM_004067.2;CHN2,missense_variant,p.His150Pro,ENST00000409041,NM_001039936.1;CHN2,missense_variant,p.His271Pro,ENST00000546235,;CHN2,missense_variant,p.His361Pro,ENST00000539406,;CHN2,missense_variant,p.His299Pro,ENST00000495789,;CHN2,missense_variant,p.His105Pro,ENST00000424025,;CHN2,missense_variant,p.His142Pro,ENST00000539389,;CHN2,missense_variant,p.His150Pro,ENST00000439711,;CHN2,missense_variant,p.His111Pro,ENST00000446446,;CHN2,intron_variant,,ENST00000435288,;CHN2,intron_variant,,ENST00000421775,;CHN2,upstream_gene_variant,,ENST00000433720,;CHN2,non_coding_transcript_exon_variant,,ENST00000410098,;CHN2,non_coding_transcript_exon_variant,,ENST00000467441,;CHN2,non_coding_transcript_exon_variant,,ENST00000493906,;CHN2,non_coding_transcript_exon_variant,,ENST00000412711,;	uc003szz.2	c.857A>C	1387/3530	3	3			c.857A>C						7	SNP	c.(856-858)CAC>CCC	1	1			ovary(2)	2	Broad	beta chimerin isoform 2			29539600		0.413	ENSG00000106069	3300	g.chr7:29539600A>C	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	Ovarian(1;44 48 13232 18918 31480)			Ovarian(1;44 48 13232 18918 31480)			71.361105	KEEP	13	13	-1	30	43	13	13	-1	76.635649	30	43	0.252632	1	0	0	0	0	1	0	0	0	--	--		0	C			CHN2_uc011jzs.1_Missense_Mutation_p.H361P|CHN2_uc010kva.2_Missense_Mutation_p.H56P|CHN2_uc010kvb.2_Intron|CHN2_uc010kvc.2_Missense_Mutation_p.H251P|CHN2_uc011jzt.1_Missense_Mutation_p.H299P|CHN2_uc010kvd.2_Missense_Mutation_p.H142P|CHN2_uc011jzu.1_Missense_Mutation_p.H271P|CHN2_uc010kvg.2_Missense_Mutation_p.H150P|CHN2_uc010kvh.2_Intron|CHN2_uc010kvi.2_Missense_Mutation_p.H150P|CHN2_uc010kve.2_Missense_Mutation_p.H150P|CHN2_uc003taa.2_Missense_Mutation_p.H150P|CHN2_uc010kvf.2_Intron|CHN2_uc010kvj.2_Missense_Mutation_p.H105P|CHN2_uc010kvk.2_Intron|CHN2_uc010kvl.2_RNA|CHN2_uc010kvm.2_Missense_Mutation_p.H105P|CHN2_uc011jzv.1_Missense_Mutation_p.H79P	240	GBM-32-2632-TP	p.H286P	A	GTGAAGGCTCACAACACTCAG	NM_004067	NP_004058	29539600	P52757	CHIO_HUMAN	0			9	1294	+	C	C			Missense_Mutation	286			Rho-GAP.			
CHN2	0	broad.mit.edu	GRCh37	7	29539565	29539565	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222792.6:c.822G>A	p.Val274=	p.V274=	ENST00000222792	NM_004067.2	274	gtG/gtA	0			1			A	V	uc003szz.2	protein_coding	YES	CCDS5420.1			822/1407									ovary(2)	2	c.(820-822)GTG>GTA			Gene3D:1.10.555.10,PIRSF_domain:PIRSF038015,hmmpanther:PTHR23178,hmmpanther:PTHR23178:SF7,Superfamily_domains:SSF48350	beta chimerin isoform 2				ENSP00000222792		13-Sep									COSM2157520,COSM2157521,COSM2157522	13-Sep	.		ENST00000222792	Transcript			regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	ENSG00000106069	g.chr7:29539565G>A	1944			LOW								--	--	1																																		CHN2_uc011jzs.1_Silent_p.V349V|CHN2_uc010kva.2_Silent_p.V44V|CHN2_uc010kvb.2_Intron|CHN2_uc010kvc.2_Silent_p.V239V|CHN2_uc011jzt.1_Silent_p.V287V|CHN2_uc010kvd.2_Silent_p.V130V|CHN2_uc011jzu.1_Silent_p.V259V|CHN2_uc010kvg.2_Silent_p.V138V|CHN2_uc010kvh.2_Intron|CHN2_uc010kvi.2_Silent_p.V138V|CHN2_uc010kve.2_Silent_p.V138V|CHN2_uc003taa.2_Silent_p.V138V|CHN2_uc010kvf.2_Intron|CHN2_uc010kvj.2_Silent_p.V93V|CHN2_uc010kvk.2_Intron|CHN2_uc010kvl.2_RNA|CHN2_uc010kvm.2_Silent_p.V93V|CHN2_uc011jzv.1_Silent_p.V67V	1,1,1	1			p.V274V	NM_004067	NP_004058			1,1,1	CHIO_HUMAN	CHN2	HGNC	P52757	CHIO_HUMAN			A4D1A2_HUMAN		9	1259	+			UPI000012781F	274					SNV	CHN2,synonymous_variant,p.=,ENST00000222792,NM_004067.2;CHN2,synonymous_variant,p.=,ENST00000409041,NM_001039936.1;CHN2,synonymous_variant,p.=,ENST00000546235,;CHN2,synonymous_variant,p.=,ENST00000539406,;CHN2,synonymous_variant,p.=,ENST00000495789,;CHN2,synonymous_variant,p.=,ENST00000424025,;CHN2,synonymous_variant,p.=,ENST00000539389,;CHN2,synonymous_variant,p.=,ENST00000439711,;CHN2,synonymous_variant,p.=,ENST00000446446,;CHN2,intron_variant,,ENST00000435288,;CHN2,intron_variant,,ENST00000421775,;CHN2,upstream_gene_variant,,ENST00000433720,;CHN2,non_coding_transcript_exon_variant,,ENST00000410098,;CHN2,non_coding_transcript_exon_variant,,ENST00000467441,;CHN2,non_coding_transcript_exon_variant,,ENST00000493906,;CHN2,non_coding_transcript_exon_variant,,ENST00000412711,;	uc003szz.2	c.822G>A	1352/3530	1	1			c.822G>A						7	SNP	c.(820-822)GTG>GTA	56	56			ovary(2)	2	Broad	beta chimerin isoform 2			29539565		0.448	ENSG00000106069	3300	g.chr7:29539565G>A	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	Ovarian(1;44 48 13232 18918 31480)			Ovarian(1;44 48 13232 18918 31480)			106.456488	KEEP	21	24	-1	53	67	21	24	-1	114.178242	53	67	0.26875	1	0	0	0	0	0	0	1	0	--	--		0	A			CHN2_uc011jzs.1_Silent_p.V349V|CHN2_uc010kva.2_Silent_p.V44V|CHN2_uc010kvb.2_Intron|CHN2_uc010kvc.2_Silent_p.V239V|CHN2_uc011jzt.1_Silent_p.V287V|CHN2_uc010kvd.2_Silent_p.V130V|CHN2_uc011jzu.1_Silent_p.V259V|CHN2_uc010kvg.2_Silent_p.V138V|CHN2_uc010kvh.2_Intron|CHN2_uc010kvi.2_Silent_p.V138V|CHN2_uc010kve.2_Silent_p.V138V|CHN2_uc003taa.2_Silent_p.V138V|CHN2_uc010kvf.2_Intron|CHN2_uc010kvj.2_Silent_p.V93V|CHN2_uc010kvk.2_Intron|CHN2_uc010kvl.2_RNA|CHN2_uc010kvm.2_Silent_p.V93V|CHN2_uc011jzv.1_Silent_p.V67V	265	GBM-76-4925-TP	p.V274V	G	TCAAGAAAGTGTACTGTTGTG	NM_004067	NP_004058	29539565	P52757	CHIO_HUMAN	0			9	1259	+	A	A			Silent	274						
CHN2	1124		GRCh37	7	29407575	29407575	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2510-01	TCGA-28-2510-01																				ENST00000222792.6:c.116G>A	p.Arg39His	p.R39H	ENST00000222792	NM_004067.2	39	cGt/cAt	0																																																																																																																																																																																																																																												
CHODL	140578	broad.mit.edu	GRCh37	21	19638284	19638284	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0128-01	TCGA-06-0128-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299295.2:c.751A>G	p.Lys251Glu	p.K251E	ENST00000299295	NM_001204175.1	251	Aaa/Gaa	0			1			G	K/E	uc002ykv.2	protein_coding	YES	CCDS13570.1			751/822									upper_aerodigestive_tract(1)	1	c.(751-753)AAA>GAA			hmmpanther:PTHR14789	chondrolectin precursor				ENSP00000299295		6-Jun									COSM3405323,COSM3405324	6-Jun	.		ENST00000299295	Transcript			muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding	ENSG00000154645	g.chr21:19638284A>G	17807			MODERATE								--	--	1																																		CHODL_uc002ykr.2_Missense_Mutation_p.K210E|CHODL_uc002yks.2_Missense_Mutation_p.K210E|CHODL_uc002ykt.2_Silent_p.Q175Q|CHODL_uc002yku.2_Silent_p.Q175Q	1,1	1		benign(0.341)	p.K251E	NM_024944	NP_079220		tolerated(0.14)	1,1	CHODL_HUMAN	CHODL	HGNC	Q9H9P2	CHODL_HUMAN		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)			6	1142	+		all_epithelial(11;0.21)	UPI0000037746	251			Cytoplasmic (Potential).		SNV	CHODL,missense_variant,p.Lys251Glu,ENST00000299295,NM_001204175.1,NM_024944.2;CHODL,missense_variant,p.Lys210Glu,ENST00000400128,;CHODL,missense_variant,p.Lys210Glu,ENST00000400127,NM_001204176.1;CHODL,missense_variant,p.Lys232Glu,ENST00000543733,NM_001204174.1;CHODL,synonymous_variant,p.=,ENST00000338326,;CHODL,synonymous_variant,p.=,ENST00000400135,NM_001204178.1;CHODL,synonymous_variant,p.=,ENST00000400131,NM_001204177.1;TMPRSS15,downstream_gene_variant,,ENST00000284885,NM_002772.2;	uc002ykv.2	c.751A>G	1142/2548	3	3			c.751A>G						21	SNP	c.(751-753)AAA>GAA	2	2			upper_aerodigestive_tract(1)	1	Broad	chondrolectin precursor			19638284		0.343	ENSG00000154645	3301	g.chr21:19638284A>G	muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding							5.183225	KEEP	3	6	-1	54	64	3	6	-1	25.29427	54	64	0.080357	1	0	0	0	0	1	0	0	0	--	--		0	G			CHODL_uc002ykr.2_Missense_Mutation_p.K210E|CHODL_uc002yks.2_Missense_Mutation_p.K210E|CHODL_uc002ykt.2_Silent_p.Q175Q|CHODL_uc002yku.2_Silent_p.Q175Q	14	GBM-06-0128-TP	p.K251E	A	AGGAAGAACAAAAACTAGTCC	NM_024944	NP_079220	19638284	Q9H9P2	CHODL_HUMAN	0		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)	6	1142	+	G	G		all_epithelial(11;0.21)	Missense_Mutation	251			Cytoplasmic (Potential).			
CHORDC1	26973	broad.mit.edu	GRCh37	11	89951306	89951306	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0154-01	TCGA-06-0154-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320585.6:c.111A>G	p.Leu37=	p.L37=	ENST00000320585	NM_012124.2	37	ttA/ttG	0			1			C	L	uc001pdg.2	protein_coding	YES	CCDS8289.1			111/999										0	c.(109-111)TTA>TTG			Pfam_domain:PF04968,PROSITE_profiles:PS51401,hmmpanther:PTHR12621,hmmpanther:PTHR12621:SF9	cysteine and histidine-rich domain-containing				ENSP00000319255		11-Feb									COSM2149917	11-Feb	.		ENST00000320585	Transcript			chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding	ENSG00000110172	g.chr11:89951306T>C	14525			LOW								--	--	1																																		CHORDC1_uc009yvz.2_Silent_p.L37L	1	1			p.L37L	NM_012124	NP_036256			1	CHRD1_HUMAN	CHORDC1	HGNC	Q9UHD1	CHRD1_HUMAN			E9PHZ2_HUMAN		2	521	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)	UPI000013F1A2	37			Interaction with PPP5C (By similarity).|CHORD 1.		SNV	CHORDC1,synonymous_variant,p.=,ENST00000320585,NM_012124.2;CHORDC1,synonymous_variant,p.=,ENST00000457199,NM_001144073.1;CHORDC1,synonymous_variant,p.=,ENST00000530765,;CHORDC1,synonymous_variant,p.=,ENST00000525317,;CHORDC1,synonymous_variant,p.=,ENST00000533062,;CHORDC1,synonymous_variant,p.=,ENST00000533772,;CHORDC1,3_prime_UTR_variant,,ENST00000529402,;CHORDC1,non_coding_transcript_exon_variant,,ENST00000533724,;CHORDC1,non_coding_transcript_exon_variant,,ENST00000533739,;	uc001pdg.2	c.111A>G	521/2654	3	3			c.111A>G						11	SNP	c.(109-111)TTA>TTG	64	64				0	Broad	cysteine and histidine-rich domain-containing			89951306		0.313	ENSG00000110172	3302	g.chr11:89951306T>C	chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding							81.240878	KEEP	13	13	-1	23	21	13	13	-1	81.802886	23	21	0.392857	1	0	0	0	0	0	0	1	0	--	--		0	C			CHORDC1_uc009yvz.2_Silent_p.L37L	26	GBM-06-0154-TP	p.L37L	T	TTCCTACCTTTAATGCATCGT	NM_012124	NP_036256	89951306	Q9UHD1	CHRD1_HUMAN	0			2	521	-	C	C		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)	Silent	37			Interaction with PPP5C (By similarity).|CHORD 1.			
CHP2	0	broad.mit.edu	GRCh37	16	23768582	23768582	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300113.2:c.475C>T	p.Arg159Cys	p.R159C	ENST00000300113	NM_022097.3	159	Cgc/Tgc	0			1			T	R/C	uc002dmb.1	protein_coding	YES	CCDS10617.1			475/591									central_nervous_system(1)	1	c.(475-477)CGC>TGC			Gene3D:1.10.238.10,PROSITE_profiles:PS50222,hmmpanther:PTHR23056,hmmpanther:PTHR23056:SF30,SMART_domains:SM00054,Superfamily_domains:SSF47473	hepatocellular carcinoma antigen gene 520				ENSP00000300113		7-Jun	8.24E-06					1.50E-05			rs773423633,COSM1376845	7-Jun	.		ENST00000300113	Transcript					calcium ion binding	ENSG00000166869	g.chr16:23768582C>T	24927			MODERATE		3.19	medium	getma.org/?cm=msa&ty=f&p=CHP2_HUMAN&rb=152&re=187&var=R159C	getma.org/pdb.php?prot=CHP2_HUMAN&from=152&to=187&var=R159C	getma.org/?cm=var&var=hg19,16,23768582,C,T&fts=all	R159C	--	--	1																																			0,1	1		probably_damaging(0.979)	p.R159C	NM_022097	NP_071380		deleterious(0)	0,1	CHP2_HUMAN	CHP2	HGNC	O43745	CHP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0144)	A8K2I8_HUMAN		6	898	+			UPI000013E626	159			EF-hand 4.		SNV	CHP2,missense_variant,p.Arg159Cys,ENST00000300113,NM_022097.3;	uc002dmb.1	c.475C>T	898/2382	1	1			c.475C>T						16	SNP	c.(475-477)CGC>TGC	12	12			central_nervous_system(1)	1	Broad	hepatocellular carcinoma antigen gene 520			23768582		0.577	ENSG00000166869	3304	g.chr16:23768582C>T			calcium ion binding							162.457203	KEEP	34	22	-1	38	37	34	22	-1	162.861879	38	37	0.438017	1	0	0	0	0	1	0	0	0	--	--		0	T				218	GBM-28-5209-TP	p.R159C	C	CATCGCTGACCGCACGGTGCA	NM_022097	NP_071380	23768582	O43745	CHP2_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0144)	6	898	+	T	T			Missense_Mutation	159			EF-hand 4.			
CHPF2	54480		GRCh37	7	150934492	150934492	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000035307.2:c.1044C>G	p.Pro348=	p.P348=	ENST00000035307	NM_019015.1	348	ccC/ccG	0																																																																																																																																																																																																																																												
CHRD	0	broad.mit.edu	GRCh37	3	184104344	184104344	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-12-0821-01	TCGA-12-0821-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000204604.1:c.1997T>G	p.Val666Gly	p.V666G	ENST00000204604	NM_003741.2	666	gTg/gGg	0			1			G	V/G	uc003fov.2	protein_coding	YES	CCDS3266.1			1997/2868									skin(2)|ovary(1)	3	c.(1996-1998)GTG>GGG			PIRSF_domain:PIRSF002496,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF263,Low_complexity_(Seg):seg	chordin precursor				ENSP00000204604		16/23	0.000447	0.00216	0.00971	0.00422	0.0273	0.00181		0.000299	rs766129822,COSM3748222,COSM3748223	16/23	common_variant		ENST00000204604	Transcript			BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	ENSG00000090539	g.chr3:184104344T>G	1949			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=CHRD_HUMAN&rb=647&re=704&var=V666G	NA	getma.org/?cm=var&var=hg19,3,184104344,T,G&fts=all	V666G	--	--	1																																		CHRD_uc003fow.2_Missense_Mutation_p.V296G|CHRD_uc003fox.2_Missense_Mutation_p.V666G|CHRD_uc003foy.2_Missense_Mutation_p.V296G|CHRD_uc010hyc.2_Missense_Mutation_p.V256G|CHRD_uc011brr.1_Intron	0,1,1	1		benign(0.05)	p.V666G	NM_003741	NP_003732		tolerated(0.36)	0,1,1	CHRD_HUMAN	CHRD	HGNC	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Q8N2W7_HUMAN		16	2243	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		UPI000013C64D	666					SNV	CHRD,missense_variant,p.Val666Gly,ENST00000204604,NM_003741.2;CHRD,missense_variant,p.Val666Gly,ENST00000450923,;CHRD,missense_variant,p.Val626Gly,ENST00000348986,;CHRD,intron_variant,,ENST00000545352,;EIF2B5,intron_variant,,ENST00000444495,;CHRD,downstream_gene_variant,,ENST00000482805,;CHRD,3_prime_UTR_variant,,ENST00000448472,;CHRD,3_prime_UTR_variant,,ENST00000420973,;CHRD,non_coding_transcript_exon_variant,,ENST00000460627,;CHRD,non_coding_transcript_exon_variant,,ENST00000470150,;CHRD,non_coding_transcript_exon_variant,,ENST00000464833,;CHRD,downstream_gene_variant,,ENST00000356534,;CHRD,downstream_gene_variant,,ENST00000461120,;CHRD,downstream_gene_variant,,ENST00000461684,;CHRD,downstream_gene_variant,,ENST00000485883,;CHRD,downstream_gene_variant,,ENST00000482014,;CHRD,downstream_gene_variant,,ENST00000486066,;CHRD,downstream_gene_variant,,ENST00000459711,;	uc003fov.2	c.1997T>G	2243/3521	4	4			c.1997T>G						3	SNP	c.(1996-1998)GTG>GGG	31	31			skin(2)|ovary(1)	3	Broad	chordin precursor			184104344		0.726	ENSG00000090539	3309	g.chr3:184104344T>G	BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding							15.578609	KEEP	13	10	-1	26	6	13	10	-1	17.030469	26	6	0.297297	1	0	0	0	0	1	0	0	0	--	--		0	G			CHRD_uc003fow.2_Missense_Mutation_p.V296G|CHRD_uc003fox.2_Missense_Mutation_p.V666G|CHRD_uc003foy.2_Missense_Mutation_p.V296G|CHRD_uc010hyc.2_Missense_Mutation_p.V256G|CHRD_uc011brr.1_Intron	123	GBM-12-0821-TP	p.V666G	T	GCCGAGGGGGTGCGGGCGCTG	NM_003741	NP_003732	184104344	Q9H2X0	CHRD_HUMAN	0	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		16	2243	+	G	G	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Missense_Mutation	666						
CHRDL1	0	broad.mit.edu	GRCh37	X	109922648	109922648	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-26-5133-01	TCGA-26-5133-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372045.1:c.1138C>G	p.Leu380Val	p.L380V	ENST00000372045		380	Ctc/Gtc	0			1			C	L/V	uc004eou.3	protein_coding					1138/1353										0	c.(1162-1164)CTC>GTC			hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF249	chordin-like 1 isoform 1 precursor				ENSP00000361115		12-Nov									COSM3405846	12-Nov	.		ENST00000372045	Transcript	1		BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		ENSG00000101938	g.chrX:109922648G>C	29861			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=CRDL1_HUMAN&rb=317&re=450&var=L380V	NA	getma.org/?cm=var&var=hg19,X,109922648,G,C&fts=all	L380V	--	--	1																																		CHRDL1_uc004eov.2_Missense_Mutation_p.L377V|CHRDL1_uc004eow.2_Missense_Mutation_p.L386V|CHRDL1_uc010nps.2_Missense_Mutation_p.L387V|CHRDL1_uc004eot.2_Missense_Mutation_p.L307V|CHRDL1_uc011mss.1_Missense_Mutation_p.L302V	1			probably_damaging(0.996)	p.L388V	NM_001143981	NP_001137453		deleterious(0.02)	1	CRDL1_HUMAN	CHRDL1	HGNC	Q9BU40	CRDL1_HUMAN					11	1511	-			UPI0000130515	380					SNV	CHRDL1,missense_variant,p.Leu386Val,ENST00000218054,NM_145234.3,NM_001143982.1,NM_001143981.1;CHRDL1,missense_variant,p.Leu380Val,ENST00000372045,;CHRDL1,missense_variant,p.Leu307Val,ENST00000434224,NM_001143983.2;CHRDL1,missense_variant,p.Leu386Val,ENST00000394797,;CHRDL1,missense_variant,p.Leu388Val,ENST00000372042,;CHRDL1,missense_variant,p.Leu387Val,ENST00000444321,;CHRDL1,missense_variant,p.Leu308Val,ENST00000482160,;	uc004eou.3	c.1162C>G	1270/3860	3	3			c.1162C>G						23	SNP	c.(1162-1164)CTC>GTC	12	12				0	Broad	chordin-like 1 isoform 1 precursor			109922648		0.453	ENSG00000101938	3310	g.chrX:109922648G>C	BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region								-4.56266	KEEP	2	2	-1	30	41	2	2	-1	10.126156	30	41	0.056338	1	0	0	0	0	1	0	0	0	--	--		0	C			CHRDL1_uc004eov.2_Missense_Mutation_p.L377V|CHRDL1_uc004eow.2_Missense_Mutation_p.L386V|CHRDL1_uc010nps.2_Missense_Mutation_p.L387V|CHRDL1_uc004eot.2_Missense_Mutation_p.L307V|CHRDL1_uc011mss.1_Missense_Mutation_p.L302V	182	GBM-26-5133-TP	p.L388V	G	AAGTGCTGGAGAATGCCTAGG	NM_001143981	NP_001137453	109922648	Q9BU40	CRDL1_HUMAN	0			11	1511	-	C	C			Missense_Mutation	380						
CHRDL2	0	broad.mit.edu	GRCh37	11	74414523	74414523	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2634-01	TCGA-32-2634-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376332.3:c.773C>T	p.Thr258Met	p.T258M	ENST00000376332	NM_001278473.1	258	aCg/aTg	0			1			A	T/M	uc001ovi.2	protein_coding		CCDS60893.1			773/1290										0	c.(772-774)ACG>ATG			Gene3D:2.10.70.10,Pfam_domain:PF00093,PROSITE_profiles:PS50184,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF226,SMART_domains:SM00214,Superfamily_domains:SSF57603	RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1;          Short=BNF-1; Flags: Precursor;				ENSP00000365510		11-Aug	8.24E-06							9.24E-05	rs756931331,COSM3398130	11-Aug	.		ENST00000376332	Transcript			cartilage development|cell differentiation|ossification	extracellular region|mitochondrion		ENSG00000054938	g.chr11:74414523G>A	24168			MODERATE		1.885	low	getma.org/?cm=msa&ty=f&p=G8JLG3_HUMAN&rb=1&re=200&var=T144M	getma.org/pdb.php?prot=G8JLG3_HUMAN&from=1&to=200&var=T144M	getma.org/?cm=var&var=hg19,11,74414523,G,A&fts=all	T144M	--	--	1																																		CHRDL2_uc001ovg.2_Missense_Mutation_p.T142M|CHRDL2_uc001ovh.2_Missense_Mutation_p.T258M|CHRDL2_uc001ovj.1_RNA|CHRDL2_uc001ovk.1_Intron	0,1			probably_damaging(1)	p.T258M				deleterious(0.02)	0,1	CRDL2_HUMAN	CHRDL2	HGNC	Q6WN34	CRDL2_HUMAN					8	1026	-	Hepatocellular(1;0.098)		UPI0000039F09	258			VWFC 3.		SNV	CHRDL2,missense_variant,p.Thr258Met,ENST00000376332,NM_001278473.1;CHRDL2,missense_variant,p.Thr258Met,ENST00000263671,NM_015424.4;CHRDL2,missense_variant,p.Thr58Met,ENST00000525413,;CHRDL2,intron_variant,,ENST00000528789,;CHRDL2,non_coding_transcript_exon_variant,,ENST00000534159,;CHRDL2,3_prime_UTR_variant,,ENST00000376324,;CHRDL2,3_prime_UTR_variant,,ENST00000534276,;CHRDL2,3_prime_UTR_variant,,ENST00000528471,;AP001324.1,upstream_gene_variant,,ENST00000330802,;	uc001ovi.2	c.773C>T	1270/1867	2	2			c.773C>T						11	SNP	c.(772-774)ACG>ATG	45	45				0	Broad	RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1;          Short=BNF-1; Flags: Precursor;			74414523		0.657	ENSG00000054938	3311	g.chr11:74414523G>A	cartilage development|cell differentiation|ossification	extracellular region|mitochondrion								51.375676	KEEP	10	9	-1	8	7	10	9	-1	51.491527	8	7	0.566667	1	0	0	0	0	1	0	0	0	--	--		0	A			CHRDL2_uc001ovg.2_Missense_Mutation_p.T142M|CHRDL2_uc001ovh.2_Missense_Mutation_p.T258M|CHRDL2_uc001ovj.1_RNA|CHRDL2_uc001ovk.1_Intron	241	GBM-32-2634-TP	p.T258M	G	GTGGGAGTACGTCTTCCCGCC			74414523	Q6WN34	CRDL2_HUMAN	0			8	1026	-	A	A	Hepatocellular(1;0.098)		Missense_Mutation	258			VWFC 3.			
CHRDL2	0	broad.mit.edu	GRCh37	11	74429781	74429781	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01	TCGA-76-6285-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376332.3:c.179G>A	p.Arg60His	p.R60H	ENST00000376332	NM_001278473.1	60	cGc/cAc	0			1			T	R/H	uc001ovi.2	protein_coding		CCDS60893.1			179/1290										0	c.(178-180)CGC>CAC			Pfam_domain:PF00093,PROSITE_patterns:PS01208,PROSITE_profiles:PS50184,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF226,SMART_domains:SM00214,Superfamily_domains:SSF57603	RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1;          Short=BNF-1; Flags: Precursor;				ENSP00000365510		11-Feb	8.24E-06			0.000124					rs765969607,COSM3398131	11-Feb	.		ENST00000376332	Transcript			cartilage development|cell differentiation|ossification	extracellular region|mitochondrion		ENSG00000054938	g.chr11:74429781C>T	24168			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=E7EN57_HUMAN&rb=33&re=95&var=R60H	NA	getma.org/?cm=var&var=hg19,11,74429781,C,T&fts=all	R60H	--	--	1																																		CHRDL2_uc001ovg.2_5'UTR|CHRDL2_uc001ovh.2_Missense_Mutation_p.R60H|CHRDL2_uc001ovk.1_Missense_Mutation_p.R60H	0,1			probably_damaging(0.999)	p.R60H				deleterious(0)	0,1	CRDL2_HUMAN	CHRDL2	HGNC	Q6WN34	CRDL2_HUMAN					2	432	-	Hepatocellular(1;0.098)		UPI0000039F09	60			VWFC 1.		SNV	CHRDL2,missense_variant,p.Arg60His,ENST00000376332,NM_001278473.1;CHRDL2,missense_variant,p.Arg60His,ENST00000263671,NM_015424.4;CHRDL2,missense_variant,p.Arg60His,ENST00000528789,;MIR4696,downstream_gene_variant,,ENST00000581431,;SNORD43,upstream_gene_variant,,ENST00000390975,;CHRDL2,non_coding_transcript_exon_variant,,ENST00000534159,;CHRDL2,missense_variant,p.Arg40His,ENST00000376324,;CHRDL2,missense_variant,p.Arg40His,ENST00000534276,;CHRDL2,missense_variant,p.Arg40His,ENST00000528471,;	uc001ovi.2	c.179G>A	676/1867	2	2			c.179G>A						11	SNP	c.(178-180)CGC>CAC	45	45				0	Broad	RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1;          Short=BNF-1; Flags: Precursor;			74429781		0.597	ENSG00000054938	3311	g.chr11:74429781C>T	cartilage development|cell differentiation|ossification	extracellular region|mitochondrion								11.863599	KEEP	2	4	-1	8	13	2	4	-1	13.75287	8	13	0.208333	1	0	0	0	0	1	0	0	0	--	--		0	T			CHRDL2_uc001ovg.2_5'UTR|CHRDL2_uc001ovh.2_Missense_Mutation_p.R60H|CHRDL2_uc001ovk.1_Missense_Mutation_p.R60H	280	GBM-76-6285-TP	p.R60H	C	GCAGGTACAGCGCAGGCAGTA			74429781	Q6WN34	CRDL2_HUMAN	0			2	432	-	T	T	Hepatocellular(1;0.098)		Missense_Mutation	60			VWFC 1.			
CHRFAM7A	0	broad.mit.edu	GRCh37	15	30664456	30664456	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-1991-01	TCGA-32-1991-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299847.2:c.417G>A	p.Arg139=	p.R139=	ENST00000299847	NM_139320.1	139	agG/agA	0			1			T	R	uc001zdt.1	protein_coding	YES	CCDS32184.1			417/1239									skin(1)	1	c.(415-417)AGG>AGA			hmmpanther:PTHR18945:SF480,hmmpanther:PTHR18945,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Superfamily_domains:0038932	CHRNA7-FAM7A fusion isoform 1				ENSP00000299847		10-Jul									COSM2084153	10-Jul	.		ENST00000299847	Transcript				integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity	ENSG00000166664	g.chr15:30664456C>T	15781			LOW								--	--	1																																		DKFZP434L187_uc001zds.2_Intron|CHRFAM7A_uc001zdu.1_Silent_p.R48R|CHRFAM7A_uc010azn.2_Silent_p.R48R	1	1			p.R139R	NM_139320	NP_647536			1	CRFM7_HUMAN	CHRFAM7A	HGNC	Q494W8	CRFM7_HUMAN		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)	Q693P7_HUMAN,H3BPP0_HUMAN		7	983	-		all_lung(180;3.42e-11)|Breast(32;0.000153)	UPI000013E5F0	139					SNV	CHRFAM7A,synonymous_variant,p.=,ENST00000397827,NM_148911.1;CHRFAM7A,synonymous_variant,p.=,ENST00000299847,NM_139320.1;CHRFAM7A,synonymous_variant,p.=,ENST00000401522,;CHRFAM7A,downstream_gene_variant,,ENST00000562729,;CHRFAM7A,downstream_gene_variant,,ENST00000567722,;	uc001zdt.1	c.417G>A	871/2393	2	2			c.417G>A						15	SNP	c.(415-417)AGG>AGA	41	41			skin(1)	1	Broad	CHRNA7-FAM7A fusion isoform 1			30664456		0.572	ENSG00000166664	3312	g.chr15:30664456C>T		integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity							177.405328	KEEP	55	49	-1	124	103	55	49	-1	179.269261	124	103	0.385093	1	0	0	0	0	0	0	1	0	--	--		0	T			DKFZP434L187_uc001zds.2_Intron|CHRFAM7A_uc001zdu.1_Silent_p.R48R|CHRFAM7A_uc010azn.2_Silent_p.R48R	234	GBM-32-1991-TP	p.R139R	C	AGTAGAGCGTCCTGCGGCGCA	NM_139320	NP_647536	30664456	Q494W8	CRFM7_HUMAN	0		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)	7	983	-	T	T		all_lung(180;3.42e-11)|Breast(32;0.000153)	Silent	139						
CHRFAM7A	89832		GRCh37	15	30659651	30659651	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000299847.2:c.690C>T	p.His230=	p.H230=	ENST00000299847	NM_139320.1	230	caC/caT	0																																																																																																																																																																																																																																												
CHRM1	1128		GRCh37	11	62677224	62677224	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000306960.3:c.1349G>A	p.Gly450Asp	p.G450D	ENST00000306960	NM_000738.2	450	gGc/gAc	0																																																																																																																																																																																																																																												
CHRM2	1129	broad.mit.edu	GRCh37	7	136700738	136700738	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-02-2485-01	TCGA-02-2485-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000445907.2:c.1126A>G	p.Lys376Glu	p.K376E	ENST00000445907	NM_001006627.1	376	Aag/Gag	0			1			G	K/E	uc003vtf.1	protein_coding		CCDS5843.1			1126/1401									ovary(4)|central_nervous_system(1)	5	c.(1126-1128)AAG>GAG			PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF57,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)			ENSP00000319984		3-Mar									COSM3411618	3-Mar	.		ENST00000320658	Transcript	1		activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	ENSG00000181072	g.chr7:136700738A>G	1951			MODERATE		2.715	medium	getma.org/?cm=msa&ty=f&p=ACM2_HUMAN&rb=40&re=440&var=K376E	getma.org/pdb.php?prot=ACM2_HUMAN&from=40&to=440&var=K376E	getma.org/?cm=var&var=hg19,7,136700738,A,G&fts=all	K376E	--	--	1																																		CHRM2_uc003vtg.1_Missense_Mutation_p.K376E|CHRM2_uc003vtj.1_Missense_Mutation_p.K376E|CHRM2_uc003vtk.1_Missense_Mutation_p.K376E|CHRM2_uc003vtl.1_Missense_Mutation_p.K376E|CHRM2_uc003vtm.1_Missense_Mutation_p.K376E|CHRM2_uc003vti.1_Missense_Mutation_p.K376E|CHRM2_uc003vto.1_Missense_Mutation_p.K376E|CHRM2_uc003vtn.1_Missense_Mutation_p.K376E|uc003vtp.1_Intron	1			possibly_damaging(0.542)	p.K376E	NM_001006630	NP_001006631		deleterious(0.02)	1	ACM2_HUMAN	CHRM2	HGNC	P08172	ACM2_HUMAN			Q96RH0_HUMAN,Q86SJ1_HUMAN,Q6SL56_HUMAN,A4D1Q0_HUMAN		4	1749	+			UPI0000050410	376			Cytoplasmic (By similarity).		SNV	CHRM2,missense_variant,p.Lys376Glu,ENST00000445907,NM_001006627.1,NM_001006629.1;CHRM2,missense_variant,p.Lys376Glu,ENST00000401861,NM_001006626.1;CHRM2,missense_variant,p.Lys376Glu,ENST00000397608,NM_000739.2,NM_001006628.1,NM_001006630.1;CHRM2,missense_variant,p.Lys376Glu,ENST00000402486,NM_001006631.1,NM_001006628.1,NM_001006630.1;CHRM2,missense_variant,p.Lys376Glu,ENST00000453373,;CHRM2,missense_variant,p.Lys376Glu,ENST00000320658,NM_001006632.1;hsa-mir-490,intron_variant,,ENST00000439694,;hsa-mir-490,intron_variant,,ENST00000425981,;hsa-mir-490,intron_variant,,ENST00000586239,;hsa-mir-490,intron_variant,,ENST00000597642,;hsa-mir-490,intron_variant,,ENST00000598184,;hsa-mir-490,intron_variant,,ENST00000593789,;hsa-mir-490,intron_variant,,ENST00000592183,;	uc003vtf.1	c.1126A>G	1419/1694	3	3			c.1126A>G						7	SNP	c.(1126-1128)AAG>GAG	4	4			ovary(4)|central_nervous_system(1)	5	Broad	cholinergic receptor, muscarinic 2		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	136700738		0.478	ENSG00000181072	3314	g.chr7:136700738A>G	activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding							204.470581	KEEP	32	40	-1	69	80	32	40	-1	210.14687	69	80	0.319797	1	0	0	0	0	1	0	0	0	--	--		0	G			CHRM2_uc003vtg.1_Missense_Mutation_p.K376E|CHRM2_uc003vtj.1_Missense_Mutation_p.K376E|CHRM2_uc003vtk.1_Missense_Mutation_p.K376E|CHRM2_uc003vtl.1_Missense_Mutation_p.K376E|CHRM2_uc003vtm.1_Missense_Mutation_p.K376E|CHRM2_uc003vti.1_Missense_Mutation_p.K376E|CHRM2_uc003vto.1_Missense_Mutation_p.K376E|CHRM2_uc003vtn.1_Missense_Mutation_p.K376E|uc003vtp.1_Intron	7	GBM-02-2485-TP	p.K376E	A	TGCAAAAAAGAAGCCTCCTCC	NM_001006630	NP_001006631	136700738	P08172	ACM2_HUMAN	0			4	1749	+	G	G			Missense_Mutation	376			Cytoplasmic (By similarity).			
CHRM2	0	broad.mit.edu	GRCh37	7	136700324	136700324	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-28-5207-01	TCGA-28-5207-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320658.5:c.712G>C	p.Gly238Arg	p.G238R	ENST00000320658	NM_001006632.1	238	Gga/Cga	0			1			C	G/R	uc003vtf.1	protein_coding		CCDS5843.1			712/1401									ovary(4)|central_nervous_system(1)	5	c.(712-714)GGA>CGA			PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF57,Pfam_domain:PF00001,Prints_domain:PR00539	cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)			ENSP00000319984		3-Mar									COSM2157326	3-Mar	.		ENST00000320658	Transcript	1		activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	ENSG00000181072	g.chr7:136700324G>C	1951			MODERATE		0.06	neutral	getma.org/?cm=msa&ty=f&p=ACM2_HUMAN&rb=40&re=440&var=G238R	getma.org/pdb.php?prot=ACM2_HUMAN&from=40&to=440&var=G238R	getma.org/?cm=var&var=hg19,7,136700324,G,C&fts=all	G238R	--	--	1																																		CHRM2_uc003vtg.1_Missense_Mutation_p.G238R|CHRM2_uc003vtj.1_Missense_Mutation_p.G238R|CHRM2_uc003vtk.1_Missense_Mutation_p.G238R|CHRM2_uc003vtl.1_Missense_Mutation_p.G238R|CHRM2_uc003vtm.1_Missense_Mutation_p.G238R|CHRM2_uc003vti.1_Missense_Mutation_p.G238R|CHRM2_uc003vto.1_Missense_Mutation_p.G238R|CHRM2_uc003vtn.1_Missense_Mutation_p.G238R|uc003vtp.1_Intron	1			benign(0.392)	p.G238R	NM_001006630	NP_001006631		tolerated(0.25)	1	ACM2_HUMAN	CHRM2	HGNC	P08172	ACM2_HUMAN			Q96RH0_HUMAN,Q86SJ1_HUMAN,Q6SL56_HUMAN,A4D1Q0_HUMAN		4	1335	+			UPI0000050410	238			Cytoplasmic (By similarity).		SNV	CHRM2,missense_variant,p.Gly238Arg,ENST00000445907,NM_001006627.1,NM_001006629.1;CHRM2,missense_variant,p.Gly238Arg,ENST00000401861,NM_001006626.1;CHRM2,missense_variant,p.Gly238Arg,ENST00000397608,NM_000739.2,NM_001006628.1,NM_001006630.1;CHRM2,missense_variant,p.Gly238Arg,ENST00000402486,NM_001006631.1,NM_001006628.1,NM_001006630.1;CHRM2,missense_variant,p.Gly238Arg,ENST00000453373,;CHRM2,missense_variant,p.Gly238Arg,ENST00000320658,NM_001006632.1;hsa-mir-490,intron_variant,,ENST00000439694,;hsa-mir-490,intron_variant,,ENST00000425981,;hsa-mir-490,intron_variant,,ENST00000586239,;hsa-mir-490,intron_variant,,ENST00000597642,;hsa-mir-490,intron_variant,,ENST00000598184,;hsa-mir-490,intron_variant,,ENST00000593789,;hsa-mir-490,intron_variant,,ENST00000592183,;	uc003vtf.1	c.712G>C	1005/1694	3	3			c.712G>C						7	SNP	c.(712-714)GGA>CGA	3	3			ovary(4)|central_nervous_system(1)	5	Broad	cholinergic receptor, muscarinic 2		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	136700324		0.507	ENSG00000181072	3314	g.chr7:136700324G>C	activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding							49.635892	KEEP	13	11	-1	41	40	13	11	-1	56.820064	41	40	0.216495	1	0	0	0	0	1	0	0	0	--	--		0	C			CHRM2_uc003vtg.1_Missense_Mutation_p.G238R|CHRM2_uc003vtj.1_Missense_Mutation_p.G238R|CHRM2_uc003vtk.1_Missense_Mutation_p.G238R|CHRM2_uc003vtl.1_Missense_Mutation_p.G238R|CHRM2_uc003vtm.1_Missense_Mutation_p.G238R|CHRM2_uc003vti.1_Missense_Mutation_p.G238R|CHRM2_uc003vto.1_Missense_Mutation_p.G238R|CHRM2_uc003vtn.1_Missense_Mutation_p.G238R|uc003vtp.1_Intron	216	GBM-28-5207-TP	p.G238R	G	TCTGGTACAAGGAAGGATAGT	NM_001006630	NP_001006631	136700324	P08172	ACM2_HUMAN	0			4	1335	+	C	C			Missense_Mutation	238			Cytoplasmic (By similarity).			
CHRM2	0	broad.mit.edu	GRCh37	7	136700700	136700700	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs147228075		TCGA-76-6285-01	TCGA-76-6285-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320658.5:c.1088G>A	p.Arg363His	p.R363H	ENST00000320658	NM_001006632.1	363	cGc/cAc	0	A:0.0002		1			A	R/H	uc003vtf.1	protein_coding		CCDS5843.1			1088/1401									ovary(4)|central_nervous_system(1)	5	c.(1087-1089)CGC>CAC			PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF57,Pfam_domain:PF00001,Prints_domain:PR00539	cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)		A:0	ENSP00000319984		3-Mar	3.29E-05	0.000192						0.000121	rs147228075,COSM2859438	3-Mar	.		ENST00000320658	Transcript	1		activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	ENSG00000181072	g.chr7:136700700G>A	1951			MODERATE		2.945	medium	getma.org/?cm=msa&ty=f&p=ACM2_HUMAN&rb=40&re=440&var=R363H	getma.org/pdb.php?prot=ACM2_HUMAN&from=40&to=440&var=R363H	getma.org/?cm=var&var=hg19,7,136700700,G,A&fts=all	R363H	--	--	1																																		CHRM2_uc003vtg.1_Missense_Mutation_p.R363H|CHRM2_uc003vtj.1_Missense_Mutation_p.R363H|CHRM2_uc003vtk.1_Missense_Mutation_p.R363H|CHRM2_uc003vtl.1_Missense_Mutation_p.R363H|CHRM2_uc003vtm.1_Missense_Mutation_p.R363H|CHRM2_uc003vti.1_Missense_Mutation_p.R363H|CHRM2_uc003vto.1_Missense_Mutation_p.R363H|CHRM2_uc003vtn.1_Missense_Mutation_p.R363H|uc003vtp.1_Intron	0,1			probably_damaging(0.911)	p.R363H	NM_001006630	NP_001006631		tolerated(0.06)	0,1	ACM2_HUMAN	CHRM2	HGNC	P08172	ACM2_HUMAN			Q96RH0_HUMAN,Q86SJ1_HUMAN,Q6SL56_HUMAN,A4D1Q0_HUMAN		4	1711	+			UPI0000050410	363			Cytoplasmic (By similarity).		SNV	CHRM2,missense_variant,p.Arg363His,ENST00000445907,NM_001006627.1,NM_001006629.1;CHRM2,missense_variant,p.Arg363His,ENST00000401861,NM_001006626.1;CHRM2,missense_variant,p.Arg363His,ENST00000397608,NM_000739.2,NM_001006628.1,NM_001006630.1;CHRM2,missense_variant,p.Arg363His,ENST00000402486,NM_001006631.1,NM_001006628.1,NM_001006630.1;CHRM2,missense_variant,p.Arg363His,ENST00000453373,;CHRM2,missense_variant,p.Arg363His,ENST00000320658,NM_001006632.1;hsa-mir-490,intron_variant,,ENST00000439694,;hsa-mir-490,intron_variant,,ENST00000425981,;hsa-mir-490,intron_variant,,ENST00000586239,;hsa-mir-490,intron_variant,,ENST00000597642,;hsa-mir-490,intron_variant,,ENST00000598184,;hsa-mir-490,intron_variant,,ENST00000593789,;hsa-mir-490,intron_variant,,ENST00000592183,;	uc003vtf.1	c.1088G>A	1381/1694	2	2			c.1088G>A						7	SNP	c.(1087-1089)CGC>CAC	32	32			ovary(4)|central_nervous_system(1)	5	Broad	cholinergic receptor, muscarinic 2		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	136700700		0.468	ENSG00000181072	3314	g.chr7:136700700G>A	activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding							61.994019	KEEP	14	12	-1	45	43	14	12	-1	68.089127	45	43	0.247619	1	0	0	0	0	1	0	0	0	--	--		0	A			CHRM2_uc003vtg.1_Missense_Mutation_p.R363H|CHRM2_uc003vtj.1_Missense_Mutation_p.R363H|CHRM2_uc003vtk.1_Missense_Mutation_p.R363H|CHRM2_uc003vtl.1_Missense_Mutation_p.R363H|CHRM2_uc003vtm.1_Missense_Mutation_p.R363H|CHRM2_uc003vti.1_Missense_Mutation_p.R363H|CHRM2_uc003vto.1_Missense_Mutation_p.R363H|CHRM2_uc003vtn.1_Missense_Mutation_p.R363H|uc003vtp.1_Intron	280	GBM-76-6285-TP	p.R363H	G	ATTGTAGCCCGCAAGATTGTG	NM_001006630	NP_001006631	136700700	P08172	ACM2_HUMAN	0			4	1711	+	A	A			Missense_Mutation	363			Cytoplasmic (By similarity).			
CHRM3	1131	broad.mit.edu	GRCh37	1	240072235	240072235	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01	TCGA-06-0155-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255380.4:c.1484C>T	p.Ala495Val	p.A495V	ENST00000255380	NM_000740.2	495	gCg/gTg	0			1			T	A/V	uc001hyp.2	protein_coding	YES	CCDS1616.1			1484/1773									ovary(4)|skin(1)	5	c.(1483-1485)GCG>GTG			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF61,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)			ENSP00000255380		5-May									COSM2149955	5-May	.		ENST00000255380	Transcript	1		cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	ENSG00000133019	g.chr1:240072235C>T	1952			MODERATE		2.725	medium	getma.org/?cm=msa&ty=f&p=ACM3_HUMAN&rb=85&re=544&var=A495V	getma.org/pdb.php?prot=ACM3_HUMAN&from=85&to=544&var=A495V	getma.org/?cm=var&var=hg19,1,240072235,C,T&fts=all	A495V	--	--	1																																			1	1		probably_damaging(0.979)	p.A495V	NM_000740	NP_000731		deleterious(0)	1	ACM3_HUMAN	CHRM3	HGNC	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Q8NG01_HUMAN,B1AN12_HUMAN		5	2263	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	UPI0000050453	495			Helical; Name=6; (By similarity).		SNV	CHRM3,missense_variant,p.Ala495Val,ENST00000255380,NM_000740.2;CHRM3,downstream_gene_variant,,ENST00000448020,;	uc001hyp.2	c.1484C>T	2263/8778	1	1			c.1484C>T						1	SNP	c.(1483-1485)GCG>GTG	12	12			ovary(4)|skin(1)	5	Broad	cholinergic receptor, muscarinic 3		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	240072235		0.493	ENSG00000133019	3315	g.chr1:240072235C>T	cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity							233.430058	KEEP	49	40	-1	77	61	49	40	-1	235.241655	77	61	0.399015	1	0	0	0	0	1	0	0	0	--	--		0	T				27	GBM-06-0155-TP	p.A495V	C	ACCCTCAGTGCGATCTTGCTT	NM_000740	NP_000731	240072235	P20309	ACM3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	2263	+	T	T	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	Missense_Mutation	495			Helical; Name=6; (By similarity).			
CHRM3	1131	broad.mit.edu	GRCh37	1	240071276	240071276	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0192-01	TCGA-06-0192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255380.4:c.525G>A	p.Thr175=	p.T175=	ENST00000255380	NM_000740.2	175	acG/acA	0			1			A	T	uc001hyp.2	protein_coding	YES	CCDS1616.1			525/1773									ovary(4)|skin(1)	5	c.(523-525)ACG>ACA			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00243,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF61,Superfamily_domains:SSF81321	cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)			ENSP00000255380		5-May	8.24E-06							6.06E-05	rs746065076,COSM2150676	5-May	.		ENST00000255380	Transcript	1		cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	ENSG00000133019	g.chr1:240071276G>A	1952			LOW								--	--	1																																			0,1	1			p.T175T	NM_000740	NP_000731			0,1	ACM3_HUMAN	CHRM3	HGNC	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Q8NG01_HUMAN,B1AN12_HUMAN		5	1304	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	UPI0000050453	175			Cytoplasmic (By similarity).		SNV	CHRM3,synonymous_variant,p.=,ENST00000255380,NM_000740.2;CHRM3,downstream_gene_variant,,ENST00000448020,;	uc001hyp.2	c.525G>A	1304/8778	2	2			c.525G>A						1	SNP	c.(523-525)ACG>ACA	30	30			ovary(4)|skin(1)	5	Broad	cholinergic receptor, muscarinic 3		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	240071276		0.507	ENSG00000133019	3315	g.chr1:240071276G>A	cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity							239.926889	KEEP	48	38	-1	107	88	48	38	-1	248.274887	107	88	0.313653	1	0	0	0	0	0	0	1	0	--	--		0	A				44	GBM-06-0192-TP	p.T175T	G	GGCCGCTCACGTACCGAGCCA	NM_000740	NP_000731	240071276	P20309	ACM3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	1304	+	A	A	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	Silent	175			Cytoplasmic (By similarity).			
CHRM4	1132	broad.mit.edu	GRCh37	11	46406690	46406690	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000433765.2:c.1418G>A	p.Arg473Gln	p.R473Q	ENST00000433765	NM_000741.2	473	cGg/cAg	0		T:0	1	T:0.0014		T	R/Q	uc001nct.1	protein_coding	YES	CCDS44581.1			1418/1440										0	c.(1417-1419)CGG>CAG			hmmpanther:PTHR24249:SF60,hmmpanther:PTHR24249,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	cholinergic receptor, muscarinic 4	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	T:0		ENSP00000409378	T:0	1-Jan	2.47E-05		9.09E-05					0.000127	rs201159443,COSM3397703	1-Jan	.		ENST00000433765	Transcript		T:0.0002	cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	ENSG00000180720	g.chr11:46406690C>T	1953			MODERATE		0.925	low	getma.org/?cm=msa&ty=f&p=ACM4_HUMAN&rb=424&re=479&var=R473Q	getma.org/pdb.php?prot=ACM4_HUMAN&from=454&to=479&var=R473Q	getma.org/?cm=var&var=hg19,11,46406690,C,T&fts=all	R473Q	--	--	1																																			0,1	1		benign(0.354)	p.R473Q	NM_000741	NP_000732	T:0	deleterious(0.04)	0,1	ACM4_HUMAN	CHRM4	HGNC	P08173	ACM4_HUMAN		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)			1	1418	-			UPI00001252BB	473			Cytoplasmic (By similarity).		SNV	CHRM4,missense_variant,p.Arg473Gln,ENST00000433765,NM_000741.2;DGKZ,downstream_gene_variant,,ENST00000454345,NM_001105540.1;DGKZ,downstream_gene_variant,,ENST00000343674,NM_201532.2;DGKZ,downstream_gene_variant,,ENST00000456247,NM_003646.3,NM_001199267.1;DGKZ,downstream_gene_variant,,ENST00000395574,NM_201533.3;DGKZ,downstream_gene_variant,,ENST00000527911,NM_001199266.1;DGKZ,downstream_gene_variant,,ENST00000318201,NM_001199268.1;DGKZ,downstream_gene_variant,,ENST00000543978,;MDK,downstream_gene_variant,,ENST00000405308,NM_001270550.1;MDK,downstream_gene_variant,,ENST00000407067,NM_001270551.1;MDK,downstream_gene_variant,,ENST00000359803,NM_001012334.2;MDK,downstream_gene_variant,,ENST00000395565,NM_001012333.2;MDK,downstream_gene_variant,,ENST00000395566,NM_002391.4;MDK,downstream_gene_variant,,ENST00000395569,NM_001270552.1;MDK,downstream_gene_variant,,ENST00000441869,;MDK,downstream_gene_variant,,ENST00000533952,;MDK,downstream_gene_variant,,ENST00000533283,;DGKZ,downstream_gene_variant,,ENST00000528173,;DGKZ,downstream_gene_variant,,ENST00000527211,;DGKZ,downstream_gene_variant,,ENST00000524984,;DGKZ,downstream_gene_variant,,ENST00000534802,;MDK,downstream_gene_variant,,ENST00000489525,;MDK,downstream_gene_variant,,ENST00000481047,;MDK,downstream_gene_variant,,ENST00000490240,;	uc001nct.1	c.1418G>A	1418/1468	1	1			c.1418G>A						11	SNP	c.(1417-1419)CGG>CAG	12	12				0	Broad	cholinergic receptor, muscarinic 4		Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	46406690		0.602	ENSG00000180720	3316	g.chr11:46406690C>T	cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	Esophageal Squamous(171;1020 1936 4566 30205 42542)			Esophageal Squamous(171;1020 1936 4566 30205 42542)			115.923405	KEEP	18	16	-1	3	7	18	16	-1	118.895579	3	7	0.780488	1	0	0	0	0	1	0	0	0	--	--		0	T				102	GBM-06-5858-TP	p.R473Q	C	GCCGATGTTCCGATACTGGCA	NM_000741	NP_000732	46406690	P08173	ACM4_HUMAN	0		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	1	1418	-	T	T			Missense_Mutation	473			Cytoplasmic (By similarity).			
CHRM4	0	broad.mit.edu	GRCh37	11	46407321	46407321	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4210-01	TCGA-32-4210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000433765.2:c.787G>A	p.Ala263Thr	p.A263T	ENST00000433765	NM_000741.2	263	Gcc/Acc	0			1			T	A/T	uc001nct.1	protein_coding	YES	CCDS44581.1			787/1440										0	c.(787-789)GCC>ACC			PROSITE_profiles:PS50262,hmmpanther:PTHR24249:SF60,hmmpanther:PTHR24249,Pfam_domain:PF00001	cholinergic receptor, muscarinic 4	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)			ENSP00000409378		1-Jan	4.18E-05					2.43E-05	0.00512	9.67E-05	rs201837786,COSM3397704	1-Jan	.		ENST00000433765	Transcript			cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	ENSG00000180720	g.chr11:46407321C>T	1953			MODERATE		-0.09	neutral	getma.org/?cm=msa&ty=f&p=ACM4_HUMAN&rb=49&re=453&var=A263T	getma.org/pdb.php?prot=ACM4_HUMAN&from=49&to=453&var=A263T	getma.org/?cm=var&var=hg19,11,46407321,C,T&fts=all	A263T	--	--	1																																			0,1	1		benign(0.108)	p.A263T	NM_000741	NP_000732		tolerated(0.75)	0,1	ACM4_HUMAN	CHRM4	HGNC	P08173	ACM4_HUMAN		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)			1	787	-			UPI00001252BB	263			Cytoplasmic (By similarity).		SNV	CHRM4,missense_variant,p.Ala263Thr,ENST00000433765,NM_000741.2;MDK,downstream_gene_variant,,ENST00000405308,NM_001270550.1;MDK,downstream_gene_variant,,ENST00000407067,NM_001270551.1;MDK,downstream_gene_variant,,ENST00000359803,NM_001012334.2;MDK,downstream_gene_variant,,ENST00000395565,NM_001012333.2;MDK,downstream_gene_variant,,ENST00000395566,NM_002391.4;MDK,downstream_gene_variant,,ENST00000395569,NM_001270552.1;MDK,downstream_gene_variant,,ENST00000441869,;MDK,downstream_gene_variant,,ENST00000533952,;MDK,downstream_gene_variant,,ENST00000533283,;MDK,downstream_gene_variant,,ENST00000489525,;MDK,downstream_gene_variant,,ENST00000481047,;MDK,downstream_gene_variant,,ENST00000490240,;	uc001nct.1	c.787G>A	787/1468	2	2			c.787G>A						11	SNP	c.(787-789)GCC>ACC	24	24				0	Broad	cholinergic receptor, muscarinic 4		Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	46407321		0.682	ENSG00000180720	3316	g.chr11:46407321C>T	cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	Esophageal Squamous(171;1020 1936 4566 30205 42542)			Esophageal Squamous(171;1020 1936 4566 30205 42542)			11.097175	KEEP	2	2	-1	5	5	2	2	-1	11.277054	5	5	0.363636	1	0	0	0	0	1	0	0	0	--	--		0	T				245	GBM-32-4210-TP	p.A263T	C	TCCTCCCGGGCGGCCTCCCCG	NM_000741	NP_000732	46407321	P08173	ACM4_HUMAN	0		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	1	787	-	T	T			Missense_Mutation	263			Cytoplasmic (By similarity).			
CHRNA10	57053	broad.mit.edu	GRCh37	11	3687530	3687530	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs148252978		TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000250699.2:c.1160G>A	p.Arg387Gln	p.R387Q	ENST00000250699	NM_020402.2	387	cGa/cAa	0	T:0.0011	T:0.0023	1	T:0		T	R/Q	uc001lyf.2	protein_coding	YES	CCDS7745.1			1160/1353									ovary(1)	1	c.(1159-1161)CGA>CAA			hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF428,TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112	cholinergic receptor, nicotinic, alpha 10	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	T:0	T:0	ENSP00000250699	T:0	5-May	0.000115	0.00136							rs148252978,COSM3397662	5-May	common_variant		ENST00000250699	Transcript		T:0.0006	elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	ENSG00000129749	g.chr11:3687530C>T	13800			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=ACH10_HUMAN&rb=243&re=395&var=R387Q	NA	getma.org/?cm=var&var=hg19,11,3687530,C,T&fts=all	R387Q	--	--	1																																		CHRNA10_uc010qxt.1_Missense_Mutation_p.R181Q|CHRNA10_uc010qxu.1_Missense_Mutation_p.R181Q	0,1	1		benign(0.015)	p.R387Q	NM_020402	NP_065135	T:0	tolerated(0.55)	0,1	ACH10_HUMAN	CHRNA10	HGNC	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)			5	1232	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	UPI0000038CF1	387			Cytoplasmic (Potential).		SNV	CHRNA10,missense_variant,p.Arg387Gln,ENST00000250699,NM_020402.2;CHRNA10,3_prime_UTR_variant,,ENST00000534359,;ART1,downstream_gene_variant,,ENST00000250693,NM_004314.2;NUP98,downstream_gene_variant,,ENST00000533346,;Y_RNA,upstream_gene_variant,,ENST00000364409,;Y_RNA,upstream_gene_variant,,ENST00000363331,;CHRNA10,downstream_gene_variant,,ENST00000493827,;CHRNA10,3_prime_UTR_variant,,ENST00000526599,;	uc001lyf.2	c.1160G>A	1232/1945	2	2			c.1160G>A						11	SNP	c.(1159-1161)CGA>CAA	36	36			ovary(1)	1	Broad	cholinergic receptor, nicotinic, alpha 10		Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	3687530		0.667	ENSG00000129749	3319	g.chr11:3687530C>T	elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	Melanoma(153;17 1869 2949 7120 36888)			Melanoma(153;17 1869 2949 7120 36888)			-6.913557	KEEP	8	4	-1	66	74	8	4	-1	17.70258	66	74	0.075188	1	0	0	0	0	1	0	0	0	--	--		0	T			CHRNA10_uc010qxt.1_Missense_Mutation_p.R181Q|CHRNA10_uc010qxu.1_Missense_Mutation_p.R181Q	62	GBM-06-0649-TP	p.R387Q	C	GCACAGACATCGTGGCTCGTG	NM_020402	NP_065135	3687530	Q9GZZ6	ACH10_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	5	1232	-	T	T		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	Missense_Mutation	387			Cytoplasmic (Potential).			
CHRNA10	0	broad.mit.edu	GRCh37	11	3687643	3687643	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000250699.2:c.1047C>T	p.Cys349=	p.C349=	ENST00000250699	NM_020402.2	349	tgC/tgT	0		A:0	1	A:0		A	C	uc001lyf.2	protein_coding	YES	CCDS7745.1			1047/1353									ovary(1)	1	c.(1045-1047)TGC>TGT			hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF428,Pfam_domain:PF02932,TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112	cholinergic receptor, nicotinic, alpha 10	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	A:0.001		ENSP00000250699	A:0	5-May	2.47E-05					4.52E-05			rs555234421,COSM1978395	5-May	.		ENST00000250699	Transcript		A:0.0002	elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	ENSG00000129749	g.chr11:3687643G>A	13800			LOW								--	--	1																																		CHRNA10_uc010qxt.1_Silent_p.C143C|CHRNA10_uc010qxu.1_Silent_p.C143C	0,1	1			p.C349C	NM_020402	NP_065135	A:0		0,1	ACH10_HUMAN	CHRNA10	HGNC	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)			5	1119	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	UPI0000038CF1	349			Cytoplasmic (Potential).		SNV	CHRNA10,synonymous_variant,p.=,ENST00000250699,NM_020402.2;CHRNA10,3_prime_UTR_variant,,ENST00000534359,;ART1,downstream_gene_variant,,ENST00000250693,NM_004314.2;NUP98,downstream_gene_variant,,ENST00000533346,;Y_RNA,upstream_gene_variant,,ENST00000364409,;Y_RNA,upstream_gene_variant,,ENST00000363331,;CHRNA10,downstream_gene_variant,,ENST00000493827,;CHRNA10,3_prime_UTR_variant,,ENST00000526599,;	uc001lyf.2	c.1047C>T	1119/1945	2	2			c.1047C>T						11	SNP	c.(1045-1047)TGC>TGT	43	43			ovary(1)	1	Broad	cholinergic receptor, nicotinic, alpha 10		Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	3687643		0.667	ENSG00000129749	3319	g.chr11:3687643G>A	elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	Melanoma(153;17 1869 2949 7120 36888)			Melanoma(153;17 1869 2949 7120 36888)			34.75499	KEEP	20	17	-1	31	33	20	17	-1	40.454305	31	33	0.213333	1	0	0	0	0	0	0	1	0	--	--		0	A			CHRNA10_uc010qxt.1_Silent_p.C143C|CHRNA10_uc010qxu.1_Silent_p.C143C	125	GBM-12-3649-TP	p.C349C	G	TTTCCCGCACGCACAGGCCCC	NM_020402	NP_065135	3687643	Q9GZZ6	ACH10_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	5	1119	-	A	A		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	Silent	349			Cytoplasmic (Potential).			
CHRNA10	0	broad.mit.edu	GRCh37	11	3687783	3687783	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-2629-01	TCGA-19-2629-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000250699.2:c.907A>G	p.Met303Val	p.M303V	ENST00000250699	NM_020402.2	303	Atg/Gtg	0			1			C	M/V	uc001lyf.2	protein_coding	YES	CCDS7745.1			907/1353									ovary(1)	1	c.(907-909)ATG>GTG			Transmembrane_helices:TMhelix,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF428,Pfam_domain:PF02932,Gene3D:1.20.120.370,TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112	cholinergic receptor, nicotinic, alpha 10	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)			ENSP00000250699		5-May	8.26E-06					1.57E-05			rs762589292,COSM1978399	5-May	.		ENST00000250699	Transcript			elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	ENSG00000129749	g.chr11:3687783T>C	13800			MODERATE		0.62	neutral	getma.org/?cm=msa&ty=f&p=ACH10_HUMAN&rb=243&re=395&var=M303V	getma.org/pdb.php?prot=ACH10_HUMAN&from=243&to=395&var=M303V	getma.org/?cm=var&var=hg19,11,3687783,T,C&fts=all	M303V	--	--	1																																		CHRNA10_uc010qxt.1_Missense_Mutation_p.M97V|CHRNA10_uc010qxu.1_Missense_Mutation_p.M97V	0,1	1		benign(0.065)	p.M303V	NM_020402	NP_065135		tolerated(0.26)	0,1	ACH10_HUMAN	CHRNA10	HGNC	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)			5	979	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	UPI0000038CF1	303			Helical; (Potential).		SNV	CHRNA10,missense_variant,p.Met303Val,ENST00000250699,NM_020402.2;CHRNA10,synonymous_variant,p.=,ENST00000534359,;ART1,downstream_gene_variant,,ENST00000250693,NM_004314.2;NUP98,downstream_gene_variant,,ENST00000533346,;Y_RNA,upstream_gene_variant,,ENST00000364409,;Y_RNA,upstream_gene_variant,,ENST00000363331,;CHRNA10,downstream_gene_variant,,ENST00000493827,;CHRNA10,3_prime_UTR_variant,,ENST00000526599,;	uc001lyf.2	c.907A>G	979/1945	3	3			c.907A>G						11	SNP	c.(907-909)ATG>GTG	13	13			ovary(1)	1	Broad	cholinergic receptor, nicotinic, alpha 10		Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	3687783		0.507	ENSG00000129749	3319	g.chr11:3687783T>C	elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	Melanoma(153;17 1869 2949 7120 36888)			Melanoma(153;17 1869 2949 7120 36888)			19.250231	KEEP	7	5	-1	34	34	7	5	-1	27.298606	34	34	0.162162	1	0	0	0	0	1	0	0	0	--	--		0	C			CHRNA10_uc010qxt.1_Missense_Mutation_p.M97V|CHRNA10_uc010qxu.1_Missense_Mutation_p.M97V	166	GBM-19-2629-TP	p.M303V	T	ATAGTGGCCATGTAGTACTTC	NM_020402	NP_065135	3687783	Q9GZZ6	ACH10_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	5	979	-	C	C		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	Missense_Mutation	303			Helical; (Potential).			
CHRNA10	0	broad.mit.edu	GRCh37	11	3688949	3688949	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2491-01	TCGA-32-2491-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000250699.2:c.408G>A	p.Leu136=	p.L136=	ENST00000250699	NM_020402.2	136	ctG/ctA	0			1			T	L	uc001lyf.2	protein_coding	YES	CCDS7745.1			408/1353									ovary(1)	1	c.(406-408)CTG>CTA			hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF428,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Superfamily_domains:0038932,Prints_domain:PR00254	cholinergic receptor, nicotinic, alpha 10	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)			ENSP00000250699		5-Apr									COSM3397664	5-Apr	.		ENST00000250699	Transcript			elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	ENSG00000129749	g.chr11:3688949C>T	13800			LOW								--	--	1																																		CHRNA10_uc010qxt.1_5'UTR|CHRNA10_uc010qxu.1_5'UTR	1	1			p.L136L	NM_020402	NP_065135			1	ACH10_HUMAN	CHRNA10	HGNC	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)			4	480	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	UPI0000038CF1	136			Extracellular (Potential).		SNV	CHRNA10,synonymous_variant,p.=,ENST00000250699,NM_020402.2;CHRNA10,5_prime_UTR_variant,,ENST00000534359,;ART1,downstream_gene_variant,,ENST00000250693,NM_004314.2;NUP98,downstream_gene_variant,,ENST00000533346,;Y_RNA,upstream_gene_variant,,ENST00000364409,;Y_RNA,upstream_gene_variant,,ENST00000363331,;CHRNA10,downstream_gene_variant,,ENST00000493827,;CHRNA10,3_prime_UTR_variant,,ENST00000526599,;	uc001lyf.2	c.408G>A	480/1945	2	2			c.408G>A						11	SNP	c.(406-408)CTG>CTA	35	35			ovary(1)	1	Broad	cholinergic receptor, nicotinic, alpha 10		Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	3688949		0.731	ENSG00000129749	3319	g.chr11:3688949C>T	elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	Melanoma(153;17 1869 2949 7120 36888)			Melanoma(153;17 1869 2949 7120 36888)			6.949124	KEEP	0	3	-1	0	3	0	3	-1	6.992813	0	3	0.4	1	0	0	0	0	0	0	1	0	--	--		0	T			CHRNA10_uc010qxt.1_5'UTR|CHRNA10_uc010qxu.1_5'UTR	235	GBM-32-2491-TP	p.L136L	C	CATCGTGGCGCAGGACCACGT	NM_020402	NP_065135	3688949	Q9GZZ6	ACH10_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	4	480	-	T	T		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	Silent	136			Extracellular (Potential).			
CHRNA10	0	broad.mit.edu	GRCh37	11	3690464	3690464	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-5651-01	TCGA-41-5651-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000250699.2:c.324C>T	p.Ser108=	p.S108=	ENST00000250699	NM_020402.2	108	agC/agT	0			1			A	S	uc001lyf.2	protein_coding	YES	CCDS7745.1			324/1353									ovary(1)	1	c.(322-324)AGC>AGT			hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF428,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Superfamily_domains:0038932,Prints_domain:PR00254	cholinergic receptor, nicotinic, alpha 10	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)			ENSP00000250699		5-Mar									COSM3397665	5-Mar	.		ENST00000250699	Transcript			elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	ENSG00000129749	g.chr11:3690464G>A	13800			LOW								--	--	1																																		CHRNA10_uc010qxt.1_5'UTR|CHRNA10_uc010qxu.1_5'UTR	1	1			p.S108S	NM_020402	NP_065135			1	ACH10_HUMAN	CHRNA10	HGNC	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)			3	396	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	UPI0000038CF1	108			Extracellular (Potential).		SNV	CHRNA10,synonymous_variant,p.=,ENST00000250699,NM_020402.2;CHRNA10,5_prime_UTR_variant,,ENST00000534359,;ART1,downstream_gene_variant,,ENST00000250693,NM_004314.2;NUP98,downstream_gene_variant,,ENST00000533346,;Y_RNA,upstream_gene_variant,,ENST00000363331,;CHRNA10,non_coding_transcript_exon_variant,,ENST00000493827,;CHRNA10,3_prime_UTR_variant,,ENST00000526599,;	uc001lyf.2	c.324C>T	396/1945	2	2			c.324C>T						11	SNP	c.(322-324)AGC>AGT	20	20			ovary(1)	1	Broad	cholinergic receptor, nicotinic, alpha 10		Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	3690464		0.567	ENSG00000129749	3319	g.chr11:3690464G>A	elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	Melanoma(153;17 1869 2949 7120 36888)			Melanoma(153;17 1869 2949 7120 36888)			74.018689	KEEP	13	16	-1	20	14	13	16	-1	74.077903	20	14	0.465517	1	0	0	0	0	0	0	1	0	--	--		0	A			CHRNA10_uc010qxt.1_5'UTR|CHRNA10_uc010qxu.1_5'UTR	258	GBM-41-5651-TP	p.S108S	G	ACACAAGACTGCTGGGGATGC	NM_020402	NP_065135	3690464	Q9GZZ6	ACH10_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	3	396	-	A	A		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	Silent	108			Extracellular (Potential).			
CHRNA10	57053		GRCh37	11	3688571	3688571	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000250699.2:c.786C>T	p.Ala262=	p.A262=	ENST00000250699	NM_020402.2	262	gcC/gcT	0																																																																																																																																																																																																																																												
CHRNB2	0	broad.mit.edu	GRCh37	1	154542048	154542048	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-76-4931-01	TCGA-76-4931-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368476.3:c.175C>T	p.Gln59Ter	p.Q59*	ENST00000368476	NM_000748.2	59	Cag/Tag	0			1			T	Q/*	uc001ffg.2	protein_coding	YES	CCDS1070.1			175/1509										0	c.(175-177)CAG>TAG			Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF80,TIGRFAM_domain:TIGR00860	neuronal nicotinic acetylcholine receptor beta 2	Nicotine(DB00184)			ENSP00000357461		6-Feb									COSM3399791	6-Feb	.		ENST00000368476	Transcript	1		B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	ENSG00000160716	g.chr1:154542048C>T	1962			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,154542048,C,T&fts=all	Q59*	--	--	1																																			1	1			p.Q59*	NM_000748	NP_000739			1	ACHB2_HUMAN	CHRNB2	HGNC	P17787	ACHB2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		Q5SXY3_HUMAN		2	439	+	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		UPI000012526E	59			Extracellular (Potential).		SNV	CHRNB2,stop_gained,p.Gln59Ter,ENST00000368476,NM_000748.2;	uc001ffg.2	c.175C>T	439/5867	5	2			c.175C>T						1	SNP	c.(175-177)CAG>TAG	29	29				0	Broad	neuronal nicotinic acetylcholine receptor beta 2		Nicotine(DB00184)	154542048		0.557	ENSG00000160716	3328	g.chr1:154542048C>T	B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity							87.894784	KEEP	17	18	-1	23	26	17	18	-1	88.461895	23	26	0.407895	1	0	0	0	0	0	1	0	0	--	--		0	T				270	GBM-76-4931-TP	p.Q59*	C	GGTGACAGTACAGCTTATGGT	NM_000748	NP_000739	154542048	P17787	ACHB2_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.185)		2	439	+	T	T	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Nonsense_Mutation	59			Extracellular (Potential).			
CHRNB4	1143	broad.mit.edu	GRCh37	15	78921872	78921872	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01	TCGA-06-0645-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261751.3:c.775G>A	p.Asp259Asn	p.D259N	ENST00000261751	NM_000750.3	259	Gac/Aac	0			1			T	D/N	uc002bed.1	protein_coding	YES	CCDS10306.1			775/1497										0	c.(775-777)GAC>AAC			hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF385,Pfam_domain:PF02932,TIGRFAM_domain:TIGR00860,Gene3D:1.20.120.370,Superfamily_domains:SSF90112	cholinergic receptor, nicotinic, beta 4				ENSP00000261751		6-May	1.65E-05		8.64E-05			1.50E-05			rs748071585,COSM2151250	6-May	.		ENST00000261751	Transcript			regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	ENSG00000117971	g.chr15:78921872C>T	1964			MODERATE		3.005	medium	getma.org/?cm=msa&ty=f&p=ACHB4_HUMAN&rb=239&re=478&var=D259N	getma.org/pdb.php?prot=ACHB4_HUMAN&from=239&to=478&var=D259N	getma.org/?cm=var&var=hg19,15,78921872,C,T&fts=all	D259N	--	--	1																																		CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.D77N	0,1	1		benign(0.31)	p.D259N	NM_000750	NP_000741		deleterious(0.03)	0,1	ACHB4_HUMAN	CHRNB4	HGNC	P30926	ACHB4_HUMAN					5	887	-			UPI0000125276	259			Cytoplasmic (Potential).		SNV	CHRNB4,missense_variant,p.Asp259Asn,ENST00000261751,NM_000750.3;CHRNB4,intron_variant,,ENST00000412074,NM_001256567.1;RP11-335K5.2,downstream_gene_variant,,ENST00000559120,;CHRNB4,downstream_gene_variant,,ENST00000560511,;CHRNB4,3_prime_UTR_variant,,ENST00000559849,;	uc002bed.1	c.775G>A	887/2623	1	1			c.775G>A						15	SNP	c.(775-777)GAC>AAC	14	14				0	Broad	cholinergic receptor, nicotinic, beta 4			78921872		0.557	ENSG00000117971	3330	g.chr15:78921872C>T	regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			152			152	143.603987	KEEP	29	22	-1	35	42	29	22	-1	144.515291	35	42	0.405172	1	0	0	0	0	1	0	0	0	--	--		0	T			CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.D77N	59	GBM-06-0645-TP	p.D259N	C	TCGCCGCAGTCGGATGGCAGG	NM_000750	NP_000741	78921872	P30926	ACHB4_HUMAN	0			5	887	-	T	T			Missense_Mutation	259			Cytoplasmic (Potential).			
CHRNB4	1143		GRCh37	15	78917630	78917630	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000261751.3:c.1342G>A	p.Val448Ile	p.V448I	ENST00000261751	NM_000750.3	448	Gtt/Att	0																																																																																																																																																																																																																																												
CHRNB4	1143		GRCh37	15	78922161	78922161	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000261751.3:c.486C>T	p.Phe162=	p.F162=	ENST00000261751	NM_000750.3	162	ttC/ttT	0																																																																																																																																																																																																																																												
CHRND	1144	broad.mit.edu	GRCh37	2	233392979	233392979	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-2570-01	TCGA-06-2570-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258385.3:c.251C>A	p.Thr84Lys	p.T84K	ENST00000258385	NM_000751.2	84	aCa/aAa	0			1			A	T/K	uc002vsw.2	protein_coding	YES	CCDS2494.1			251/1554									ovary(1)|breast(1)|skin(1)	3	c.(250-252)ACA>AAA			hmmpanther:PTHR18945:SF61,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Gene3D:2.70.170.10,Superfamily_domains:0038932,Prints_domain:PR00252	nicotinic acetylcholine receptor delta				ENSP00000258385		12-Apr									COSM2153132	12-Apr	.		ENST00000258385	Transcript	1		muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	ENSG00000135902	g.chr2:233392979C>A	1965			MODERATE		0.84	low	getma.org/?cm=msa&ty=f&p=ACHD_HUMAN&rb=25&re=246&var=T84K	getma.org/pdb.php?prot=ACHD_HUMAN&from=25&to=246&var=T84K	getma.org/?cm=var&var=hg19,2,233392979,C,A&fts=all	T84K	--	--	1																																		CHRND_uc010zmg.1_Missense_Mutation_p.T69K|CHRND_uc010fyc.2_5'UTR|CHRND_uc010zmh.1_5'UTR	1	1		benign(0.052)	p.T84K	NM_000751	NP_000742		tolerated(0.31)	1	ACHD_HUMAN	CHRND	HGNC	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)			4	255	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	UPI000012525E	84			Extracellular (Potential).		SNV	CHRND,missense_variant,p.Thr84Lys,ENST00000258385,NM_000751.2;CHRND,missense_variant,p.Thr69Lys,ENST00000543200,NM_001256657.1;CHRND,missense_variant,p.Thr84Lys,ENST00000536614,;CHRND,missense_variant,p.Thr69Lys,ENST00000449596,;CHRND,5_prime_UTR_variant,,ENST00000457943,;PRSS56,downstream_gene_variant,,ENST00000449534,NM_001195129.1;CHRND,missense_variant,p.Thr84Lys,ENST00000441621,;CHRND,missense_variant,p.Thr84Lys,ENST00000446616,;CHRND,missense_variant,p.Thr84Lys,ENST00000412233,;PRSS56,downstream_gene_variant,,ENST00000602410,;	uc002vsw.2	c.251C>A	283/2112	2	2			c.251C>A						2	SNP	c.(250-252)ACA>AAA	28	28			ovary(1)|breast(1)|skin(1)	3	Broad	nicotinic acetylcholine receptor delta			233392979		0.577	ENSG00000135902	3331	g.chr2:233392979C>A	muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity							121.971882	KEEP	21	20	0.487804878	22	22	21	20	0.487804878	121.974811	22	22	0.493333	1	0	0	0	0	1	0	0	0	--	--		0	A			CHRND_uc010zmg.1_Missense_Mutation_p.T69K|CHRND_uc010fyc.2_5'UTR|CHRND_uc010zmh.1_5'UTR	91	GBM-06-2570-TP	p.T84K	C	CAGGGCTGGACAGACAACCGG	NM_000751	NP_000742	233392979	Q07001	ACHD_HUMAN	0		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	4	255	+	A	A		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	Missense_Mutation	84			Extracellular (Potential).			
CHRND	0	broad.mit.edu	GRCh37	2	233394744	233394744	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-2631-01	TCGA-19-2631-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258385.3:c.715T>C	p.Tyr239His	p.Y239H	ENST00000258385	NM_000751.2	239	Tac/Cac	0			1			C	Y/H	uc002vsw.2	protein_coding	YES	CCDS2494.1			715/1554									ovary(1)|breast(1)|skin(1)	3	c.(715-717)TAC>CAC			hmmpanther:PTHR18945:SF61,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Gene3D:2.70.170.10,Superfamily_domains:0038932	nicotinic acetylcholine receptor delta				ENSP00000258385		12-Jul									COSM2156445	12-Jul	.		ENST00000258385	Transcript	1		muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	ENSG00000135902	g.chr2:233394744T>C	1965			MODERATE		1.78	low	getma.org/?cm=msa&ty=f&p=ACHD_HUMAN&rb=25&re=246&var=Y239H	getma.org/pdb.php?prot=ACHD_HUMAN&from=25&to=246&var=Y239H	getma.org/?cm=var&var=hg19,2,233394744,T,C&fts=all	Y239H	--	--	1																																		CHRND_uc010zmg.1_Missense_Mutation_p.Y224H|CHRND_uc010fyc.2_Missense_Mutation_p.Y112H|CHRND_uc010zmh.1_Intron	1	1		probably_damaging(1)	p.Y239H	NM_000751	NP_000742		deleterious(0.03)	1	ACHD_HUMAN	CHRND	HGNC	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)			7	719	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	UPI000012525E	239			Extracellular (Potential).		SNV	CHRND,missense_variant,p.Tyr239His,ENST00000258385,NM_000751.2;CHRND,missense_variant,p.Tyr224His,ENST00000543200,NM_001256657.1;CHRND,missense_variant,p.Leu202Pro,ENST00000536614,;CHRND,intron_variant,,ENST00000457943,;PRSS56,downstream_gene_variant,,ENST00000449534,NM_001195129.1;CHRND,downstream_gene_variant,,ENST00000449596,;CHRND,missense_variant,p.Leu202Pro,ENST00000441621,;CHRND,3_prime_UTR_variant,,ENST00000446616,;CHRND,intron_variant,,ENST00000412233,;	uc002vsw.2	c.715T>C	747/2112	3	3			c.715T>C						2	SNP	c.(715-717)TAC>CAC	64	64			ovary(1)|breast(1)|skin(1)	3	Broad	nicotinic acetylcholine receptor delta			233394744		0.612	ENSG00000135902	3331	g.chr2:233394744T>C	muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity							164.505949	KEEP	29	29	-1	33	54	29	29	-1	165.416973	33	54	0.405172	1	0	0	0	0	1	0	0	0	--	--		0	C			CHRND_uc010zmg.1_Missense_Mutation_p.Y224H|CHRND_uc010fyc.2_Missense_Mutation_p.Y112H|CHRND_uc010zmh.1_Intron	167	GBM-19-2631-TP	p.Y239H	T	CATCACCTTCTACCTCATCAT	NM_000751	NP_000742	233394744	Q07001	ACHD_HUMAN	0		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	7	719	+	C	C		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	Missense_Mutation	239			Extracellular (Potential).			
CHRND	1144		GRCh37	2	233394760	233394760	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000258385.3:c.731G>A	p.Arg244His	p.R244H	ENST00000258385	NM_000751.2	244	cGc/cAc	0																																																																																																																																																																																																																																												
CHRNG	1146		GRCh37	2	233404776	233404776	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000389494.3:c.130G>A	p.Ala44Thr	p.A44T	ENST00000389494	NM_005199.4	44	Gcg/Acg	0																																																																																																																																																																																																																																												
CHST1	0	broad.mit.edu	GRCh37	11	45671304	45671304	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-2518-01	TCGA-27-2518-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308064.2:c.1170G>A	p.Ser390=	p.S390=	ENST00000308064	NM_003654.5	390	tcG/tcA	0			1			T	S	uc001mys.1	protein_coding	YES	CCDS7913.1			1170/1236									skin(4)|pancreas(1)	5	c.(1168-1170)TCG>TCA			hmmpanther:PTHR10704:SF36,hmmpanther:PTHR10704,PIRSF_domain:PIRSF005883	carbohydrate (keratan sulfate Gal-6)				ENSP00000309270		4-Apr									COSM1979600	4-Apr	.		ENST00000308064	Transcript			galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	ENSG00000175264	g.chr11:45671304C>T	1969			LOW								--	--	1																																			1	1			p.S390S	NM_003654	NP_003645			1	CHST1_HUMAN	CHST1	HGNC	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)			4	1841	-			UPI0000073EA0	390			Lumenal (Potential).		SNV	CHST1,synonymous_variant,p.=,ENST00000308064,NM_003654.5;RP11-495O11.1,upstream_gene_variant,,ENST00000525563,;CHST1,upstream_gene_variant,,ENST00000533673,;CHST1,downstream_gene_variant,,ENST00000531322,;	uc001mys.1	c.1170G>A	1841/2718	2	2			c.1170G>A						11	SNP	c.(1168-1170)TCG>TCA	24	24			skin(4)|pancreas(1)	5	Broad	carbohydrate (keratan sulfate Gal-6)			45671304		0.692	ENSG00000175264	3334	g.chr11:45671304C>T	galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity							63.722319	KEEP	17	14	-1	56	82	17	14	-1	76.673966	56	82	0.191781	1	0	0	0	0	0	0	1	0	--	--		0	T				198	GBM-27-2518-TP	p.S390S	C	GCTCCTCCTCCGAGGCGGCGA	NM_003654	NP_003645	45671304	O43916	CHST1_HUMAN	0		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	4	1841	-	T	T			Silent	390			Lumenal (Potential).			
CHST1	0	broad.mit.edu	GRCh37	11	45671489	45671489	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308064.2:c.985G>A	p.Ala329Thr	p.A329T	ENST00000308064	NM_003654.5	329	Gcc/Acc	0			1			T	A/T	uc001mys.1	protein_coding	YES	CCDS7913.1			985/1236									skin(4)|pancreas(1)	5	c.(985-987)GCC>ACC			hmmpanther:PTHR10704:SF36,hmmpanther:PTHR10704,Pfam_domain:PF00685,Gene3D:3.40.50.300,PIRSF_domain:PIRSF005883,Superfamily_domains:SSF52540	carbohydrate (keratan sulfate Gal-6)				ENSP00000309270		4-Apr									COSM3397689	4-Apr	.		ENST00000308064	Transcript			galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	ENSG00000175264	g.chr11:45671489C>T	1969			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=CHST1_HUMAN&rb=60&re=384&var=A329T	NA	getma.org/?cm=var&var=hg19,11,45671489,C,T&fts=all	A329T	--	--	1																																			1	1		benign(0.069)	p.A329T	NM_003654	NP_003645		tolerated(0.17)	1	CHST1_HUMAN	CHST1	HGNC	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)			4	1656	-			UPI0000073EA0	329			Lumenal (Potential).		SNV	CHST1,missense_variant,p.Ala329Thr,ENST00000308064,NM_003654.5;RP11-495O11.1,upstream_gene_variant,,ENST00000525563,;CHST1,upstream_gene_variant,,ENST00000533673,;CHST1,downstream_gene_variant,,ENST00000531322,;	uc001mys.1	c.985G>A	1656/2718	2	2			c.985G>A						11	SNP	c.(985-987)GCC>ACC	32	32			skin(4)|pancreas(1)	5	Broad	carbohydrate (keratan sulfate Gal-6)			45671489		0.632	ENSG00000175264	3334	g.chr11:45671489C>T	galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity							85.073346	KEEP	27	12	-1	31	54	27	12	-1	88.14157	31	54	0.317308	1	0	0	0	0	1	0	0	0	--	--		0	T				230	GBM-32-1979-TP	p.A329T	C	ATCCAGCGGGCCACGTGGCTG	NM_003654	NP_003645	45671489	O43916	CHST1_HUMAN	0		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	4	1656	-	T	T			Missense_Mutation	329			Lumenal (Potential).			
CHST13	0	broad.mit.edu	GRCh37	3	126260762	126260762	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319340.2:c.367G>A	p.Val123Met	p.V123M	ENST00000319340	NM_152889.2	123	Gtg/Atg	0			1			A	V/M	uc003eja.2	protein_coding	YES	CCDS3039.1			367/1026									central_nervous_system(1)	1	c.(367-369)GTG>ATG			Pfam_domain:PF03567,hmmpanther:PTHR12137,hmmpanther:PTHR12137:SF31	carbohydrate sulfotransferase 13				ENSP00000317404		3-Mar									COSM3408201	3-Mar	.		ENST00000319340	Transcript			chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	ENSG00000180767	g.chr3:126260762G>A	21755			MODERATE		3.06	medium	getma.org/?cm=msa&ty=f&p=CHSTD_HUMAN&rb=97&re=333&var=V123M	NA	getma.org/?cm=var&var=hg19,3,126260762,G,A&fts=all	V123M	--	--	1																																			1	1		probably_damaging(0.951)	p.V123M	NM_152889	NP_690849		deleterious(0)	1	CHSTD_HUMAN	CHST13	HGNC	Q8NET6	CHSTD_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	Q3ZCU8_HUMAN,Q3ZCR4_HUMAN		3	367	+			UPI00000492E5	123			Lumenal (Potential).		SNV	CHST13,missense_variant,p.Val123Met,ENST00000319340,NM_152889.2;C3orf22,intron_variant,,ENST00000505070,;	uc003eja.2	c.367G>A	417/1789	2	2			c.367G>A						3	SNP	c.(367-369)GTG>ATG	42	42			central_nervous_system(1)	1	Broad	carbohydrate sulfotransferase 13			126260762		0.716	ENSG00000180767	3338	g.chr3:126260762G>A	chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity							23.999339	KEEP	4	7	-1	9	0	4	7	-1	23.999339	9	0	0.5	1	0	0	0	0	1	0	0	0	--	--		0	A				271	GBM-76-4932-TP	p.V123M	G	CTGGAAGCGCGTGCTGCTGGC	NM_152889	NP_690849	126260762	Q8NET6	CHSTD_HUMAN	0		GBM - Glioblastoma multiforme(114;0.151)	3	367	+	A	A			Missense_Mutation	123			Lumenal (Potential).			
CHST2	9435	broad.mit.edu	GRCh37	3	142841108	142841108	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0129-01	TCGA-06-0129-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309575.3:c.1450C>T	p.Arg484Trp	p.R484W	ENST00000309575	NM_004267.4	484	Cgg/Tgg	0			1			T	R/W	uc003evm.2	protein_coding	YES	CCDS3129.1			1450/1593									ovary(3)	3	c.(1450-1452)CGG>TGG			hmmpanther:PTHR10704,hmmpanther:PTHR10704:SF3,Pfam_domain:PF00685,Gene3D:3.40.50.300,PIRSF_domain:PIRSF005883,Superfamily_domains:SSF52540	carbohydrate (N-acetylglucosamine-6-O)				ENSP00000307911		2-Feb									COSM3408308	2-Feb	.		ENST00000309575	Transcript			inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	ENSG00000175040	g.chr3:142841108C>T	1970			MODERATE		3.2	medium	getma.org/?cm=msa&ty=f&p=CHST2_HUMAN&rb=164&re=507&var=R484W	getma.org/pdb.php?prot=CHST2_HUMAN&from=164&to=507&var=R484W	getma.org/?cm=var&var=hg19,3,142841108,C,T&fts=all	R484W	--	--	1																																			1	1		probably_damaging(0.998)	p.R484W	NM_004267	NP_004258		deleterious(0)	1	CHST2_HUMAN	CHST2	HGNC	Q9Y4C5	CHST2_HUMAN					2	2339	+			UPI0000073CBC	484			Lumenal (Potential).		SNV	CHST2,missense_variant,p.Arg484Trp,ENST00000309575,NM_004267.4;RP11-80H8.4,upstream_gene_variant,,ENST00000483262,;	uc003evm.2	c.1450C>T	2834/3526	2	2			c.1450C>T						3	SNP	c.(1450-1452)CGG>TGG	42	42			ovary(3)	3	Broad	carbohydrate (N-acetylglucosamine-6-O)			142841108		0.607	ENSG00000175040	3341	g.chr3:142841108C>T	inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity							24.800206	KEEP	6	11	-1	51	46	6	11	-1	34.316559	51	46	0.16092	1	0	0	0	0	1	0	0	0	--	--		0	T				15	GBM-06-0129-TP	p.R484W	C	CAATGCCTGGCGGACCGCCCT	NM_004267	NP_004258	142841108	Q9Y4C5	CHST2_HUMAN	0			2	2339	+	T	T			Missense_Mutation	484			Lumenal (Potential).			
CHST2	0	broad.mit.edu	GRCh37	3	142840212	142840212	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-12-5299-01	TCGA-12-5299-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309575.3:c.554A>G	p.Asn185Ser	p.N185S	ENST00000309575	NM_004267.4	185	aAc/aGc	0			1			G	N/S	uc003evm.2	protein_coding	YES	CCDS3129.1			554/1593									ovary(3)	3	c.(553-555)AAC>AGC			hmmpanther:PTHR10704,hmmpanther:PTHR10704:SF3,Pfam_domain:PF00685,Gene3D:3.40.50.300,PIRSF_domain:PIRSF005883,Superfamily_domains:SSF52540	carbohydrate (N-acetylglucosamine-6-O)				ENSP00000307911		2-Feb									COSM3408307	2-Feb	.		ENST00000309575	Transcript			inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	ENSG00000175040	g.chr3:142840212A>G	1970			MODERATE		1.62	low	getma.org/?cm=msa&ty=f&p=CHST2_HUMAN&rb=164&re=507&var=N185S	NA	getma.org/?cm=var&var=hg19,3,142840212,A,G&fts=all	N185S	--	--	1																																			1	1		probably_damaging(0.989)	p.N185S	NM_004267	NP_004258		tolerated(0.49)	1	CHST2_HUMAN	CHST2	HGNC	Q9Y4C5	CHST2_HUMAN					2	1443	+			UPI0000073CBC	185			Lumenal (Potential).		SNV	CHST2,missense_variant,p.Asn185Ser,ENST00000309575,NM_004267.4;RP11-80H8.4,upstream_gene_variant,,ENST00000483262,;	uc003evm.2	c.554A>G	1938/3526	3	3			c.554A>G						3	SNP	c.(553-555)AAC>AGC	9	9			ovary(3)	3	Broad	carbohydrate (N-acetylglucosamine-6-O)			142840212		0.622	ENSG00000175040	3341	g.chr3:142840212A>G	inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity							100.589954	KEEP	16	15	-1	27	30	16	15	-1	102.068434	27	30	0.360465	1	0	0	0	0	1	0	0	0	--	--		0	G				130	GBM-12-5299-TP	p.N185S	A	GAGCTATTCAACCAGAATCCC	NM_004267	NP_004258	142840212	Q9Y4C5	CHST2_HUMAN	0			2	1443	+	G	G			Missense_Mutation	185			Lumenal (Potential).			
CHST4	0	broad.mit.edu	GRCh37	16	71570968	71570968	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0821-01	TCGA-12-0821-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338482.5:c.388C>T	p.Arg130Trp	p.R130W	ENST00000338482		130	Cgg/Tgg	0	T:0		1			T	R/W	uc002fan.2	protein_coding	YES	CCDS10902.1			388/1161										0	c.(388-390)CGG>TGG			hmmpanther:PTHR10704:SF40,hmmpanther:PTHR10704,Pfam_domain:PF00685,PIRSF_domain:PIRSF005883	carbohydrate (N-acetylglucosamine 6-O)			T:0.0001	ENSP00000341206		3-Mar	6.59E-05	9.61E-05				6.00E-05	0.0011	0.000121	rs368228807,COSM3402456	3-Mar	.		ENST00000338482	Transcript			cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	ENSG00000140835	g.chr16:71570968C>T	1972			MODERATE		3.155	medium	getma.org/?cm=msa&ty=f&p=CHST4_HUMAN&rb=42&re=358&var=R130W	NA	getma.org/?cm=var&var=hg19,16,71570968,C,T&fts=all	R130W	--	--	1																																		CHST4_uc002fao.2_Missense_Mutation_p.R130W	0,1	1		probably_damaging(0.977)	p.R130W	NM_005769	NP_005760		deleterious(0)	0,1	CHST4_HUMAN	CHST4	HGNC	Q8NCG5	CHST4_HUMAN					2	569	+			UPI000006F41D	130			Lumenal (Potential).		SNV	CHST4,missense_variant,p.Arg130Trp,ENST00000338482,;CHST4,missense_variant,p.Arg130Trp,ENST00000539698,NM_001166395.1;CHST4,missense_variant,p.Arg130Trp,ENST00000572450,NM_005769.2;ZNF19,intron_variant,,ENST00000566202,;ZNF19,intron_variant,,ENST00000564225,;RP11-510M2.5,downstream_gene_variant,,ENST00000568523,;ZNF19,intron_variant,,ENST00000568446,;CHST4,non_coding_transcript_exon_variant,,ENST00000572693,;	uc002fan.2	c.388C>T	731/2412	2	2			c.388C>T						16	SNP	c.(388-390)CGG>TGG	41	41				0	Broad	carbohydrate (N-acetylglucosamine 6-O)			71570968		0.572	ENSG00000140835	3343	g.chr16:71570968C>T	cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity							249.857416	KEEP	67	28	-1	93	38	67	28	-1	250.857437	93	38	0.42268	1	0	0	0	0	1	0	0	0	--	--		0	T			CHST4_uc002fao.2_Missense_Mutation_p.R130W	123	GBM-12-0821-TP	p.R130W	C	GGAGAACAGCCGGGCCCTGTG	NM_005769	NP_005760	71570968	Q8NCG5	CHST4_HUMAN	0			2	569	+	T	T			Missense_Mutation	130			Lumenal (Potential).			
CHST5	23563	broad.mit.edu	GRCh37	16	75564091	75564091	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336257.3:c.192C>T	p.His64=	p.H64=	ENST00000336257	NM_024533.4	64	caC/caT	0			1			A	H	uc002fei.2	protein_coding	YES	CCDS10919.1			192/1236										0	c.(190-192)CAC>CAT			hmmpanther:PTHR10704:SF13,hmmpanther:PTHR10704,Pfam_domain:PF00685,PIRSF_domain:PIRSF005883,Superfamily_domains:SSF52540	carbohydrate (N-acetylglucosamine 6-O)				ENSP00000338783		3-Mar	8.24E-06			0.000118					rs768713791,COSM2149582	3-Mar	.		ENST00000336257	Transcript			N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	ENSG00000135702	g.chr16:75564091G>A	1973			LOW								--	--	1																																		CHST5_uc002fej.1_Silent_p.H70H	0,1	1			p.H64H	NM_024533	NP_078809			0,1	CHST5_HUMAN	CHST5	HGNC	Q9GZS9	CHST5_HUMAN					3	1587	-			UPI000006EAEA	64			Lumenal (Potential).		SNV	CHST5,synonymous_variant,p.=,ENST00000336257,NM_024533.4;CHST5,synonymous_variant,p.=,ENST00000541075,;CHST5,synonymous_variant,p.=,ENST00000565039,;RP11-77K12.7,3_prime_UTR_variant,,ENST00000460606,;	uc002fei.2	c.192C>T	1587/3245	1	1			c.192C>T						16	SNP	c.(190-192)CAC>CAT	60	60				0	Broad	carbohydrate (N-acetylglucosamine 6-O)			75564091		0.657	ENSG00000135702	3344	g.chr16:75564091G>A	N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity							45.950225	KEEP	10	5	-1	10	7	10	5	-1	45.950225	10	7	0.5	1	0	0	0	0	0	0	1	0	--	--		0	A			CHST5_uc002fej.1_Silent_p.H70H	18	GBM-06-0137-TP	p.H64H	G	GCACCAGCACGTGCACACGAT	NM_024533	NP_078809	75564091	Q9GZS9	CHST5_HUMAN	0			3	1587	-	A	A			Silent	64			Lumenal (Potential).			
CHST5	23563	broad.mit.edu	GRCh37	16	75563755	75563755	+	synonymous_variant	Silent	SNP	C	C	T	rs77436937		TCGA-06-2567-01	TCGA-06-2567-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336257.3:c.528G>A	p.Thr176=	p.T176=	ENST00000336257	NM_024533.4	176	acG/acA	0			1			T	T	uc002fei.2	protein_coding	YES	CCDS10919.1			528/1236										0	c.(526-528)ACG>ACA			hmmpanther:PTHR10704:SF13,hmmpanther:PTHR10704,Pfam_domain:PF00685,PIRSF_domain:PIRSF005883	carbohydrate (N-acetylglucosamine 6-O)				ENSP00000338783		3-Mar	2.47E-05			0.000351					rs77436937,COSM2691387	3-Mar	.		ENST00000336257	Transcript			N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	ENSG00000135702	g.chr16:75563755C>T	1973			LOW								--	--	1																																		CHST5_uc002fej.1_Silent_p.T182T	0,1	1			p.T176T	NM_024533	NP_078809			0,1	CHST5_HUMAN	CHST5	HGNC	Q9GZS9	CHST5_HUMAN					3	1923	-			UPI000006EAEA	176			Lumenal (Potential).		SNV	CHST5,synonymous_variant,p.=,ENST00000336257,NM_024533.4;CHST5,synonymous_variant,p.=,ENST00000541075,;CHST5,downstream_gene_variant,,ENST00000565039,;RP11-77K12.7,3_prime_UTR_variant,,ENST00000460606,;	uc002fei.2	c.528G>A	1923/3245	2	2			c.528G>A						16	SNP	c.(526-528)ACG>ACA	47	47				0	Broad	carbohydrate (N-acetylglucosamine 6-O)			75563755		0.667	ENSG00000135702	3344	g.chr16:75563755C>T	N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity							-26.44358	KEEP	3	2	-1	103	89	3	2	-1	10.030696	103	89	0.03268	1	0	0	0	0	0	0	1	0	--	--		0	T			CHST5_uc002fej.1_Silent_p.T182T	89	GBM-06-2567-TP	p.T176T	C	ATGGCTGCCGCGTGCACAGTG	NM_024533	NP_078809	75563755	Q9GZS9	CHST5_HUMAN	0			3	1923	-	T	T			Silent	176			Lumenal (Potential).			
CHST5	0	broad.mit.edu	GRCh37	16	75564022	75564022	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0781-01	TCGA-14-0781-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336257.3:c.261C>T	p.Asp87=	p.D87=	ENST00000336257	NM_024533.4	87	gaC/gaT	0			1			A	D	uc002fei.2	protein_coding	YES	CCDS10919.1			261/1236										0	c.(259-261)GAC>GAT			hmmpanther:PTHR10704:SF13,hmmpanther:PTHR10704,Gene3D:3.40.50.300,Pfam_domain:PF00685,PIRSF_domain:PIRSF005883,Superfamily_domains:SSF52540	carbohydrate (N-acetylglucosamine 6-O)				ENSP00000338783		3-Mar									COSM3402479	3-Mar	.		ENST00000336257	Transcript			N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	ENSG00000135702	g.chr16:75564022G>A	1973			LOW								--	--	1																																		CHST5_uc002fej.1_Silent_p.D93D	1	1			p.D87D	NM_024533	NP_078809			1	CHST5_HUMAN	CHST5	HGNC	Q9GZS9	CHST5_HUMAN					3	1656	-			UPI000006EAEA	87			Lumenal (Potential).		SNV	CHST5,synonymous_variant,p.=,ENST00000336257,NM_024533.4;CHST5,synonymous_variant,p.=,ENST00000541075,;CHST5,synonymous_variant,p.=,ENST00000565039,;RP11-77K12.7,3_prime_UTR_variant,,ENST00000460606,;	uc002fei.2	c.261C>T	1656/3245	1	1			c.261C>T						16	SNP	c.(259-261)GAC>GAT	54	54				0	Broad	carbohydrate (N-acetylglucosamine 6-O)			75564022		0.672	ENSG00000135702	3344	g.chr16:75564022G>A	N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity							-1.439895	KEEP	0	4	-1	16	37	0	4	-1	8.089757	16	37	0.076923	1	0	0	0	0	0	0	1	0	--	--		0	A			CHST5_uc002fej.1_Silent_p.D93D	133	GBM-14-0781-TP	p.D87D	G	GGTAGAAGACGTCGGGGTGCT	NM_024533	NP_078809	75564022	Q9GZS9	CHST5_HUMAN	0			3	1656	-	A	A			Silent	87			Lumenal (Potential).			
CHST5	0	broad.mit.edu	GRCh37	16	75564025	75564025	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-5135-01	TCGA-26-5135-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336257.3:c.258C>T	p.Pro86=	p.P86=	ENST00000336257	NM_024533.4	86	ccC/ccT	0			1			A	P	uc002fei.2	protein_coding	YES	CCDS10919.1			258/1236										0	c.(256-258)CCC>CCT			hmmpanther:PTHR10704:SF13,hmmpanther:PTHR10704,Gene3D:3.40.50.300,Pfam_domain:PF00685,PIRSF_domain:PIRSF005883,Superfamily_domains:SSF52540	carbohydrate (N-acetylglucosamine 6-O)				ENSP00000338783		3-Mar	8.24E-06					1.54E-05			rs753342076,COSM2157064	3-Mar	.		ENST00000336257	Transcript			N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	ENSG00000135702	g.chr16:75564025G>A	1973			LOW								--	--	1																																		CHST5_uc002fej.1_Silent_p.P92P	0,1	1			p.P86P	NM_024533	NP_078809			0,1	CHST5_HUMAN	CHST5	HGNC	Q9GZS9	CHST5_HUMAN					3	1653	-			UPI000006EAEA	86			Lumenal (Potential).		SNV	CHST5,synonymous_variant,p.=,ENST00000336257,NM_024533.4;CHST5,synonymous_variant,p.=,ENST00000541075,;CHST5,synonymous_variant,p.=,ENST00000565039,;RP11-77K12.7,3_prime_UTR_variant,,ENST00000460606,;	uc002fei.2	c.258C>T	1653/3245	2	2			c.258C>T						16	SNP	c.(256-258)CCC>CCT	32	32				0	Broad	carbohydrate (N-acetylglucosamine 6-O)			75564025		0.677	ENSG00000135702	3344	g.chr16:75564025G>A	N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity							101.595763	KEEP	20	14	-1	25	15	20	14	-1	101.707214	25	15	0.457143	1	0	0	0	0	0	0	1	0	--	--		0	A			CHST5_uc002fej.1_Silent_p.P92P	184	GBM-26-5135-TP	p.P86P	G	AGAAGACGTCGGGGTGCTGGC	NM_024533	NP_078809	75564025	Q9GZS9	CHST5_HUMAN	0			3	1653	-	A	A			Silent	86			Lumenal (Potential).			
CHST6	0	broad.mit.edu	GRCh37	16	75513068	75513068	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01	TCGA-27-1830-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332272.4:c.659G>A	p.Arg220His	p.R220H	ENST00000332272	NM_021615.4	220	cGt/cAt	0			1			T	R/H	uc002fef.2	protein_coding	YES	CCDS10918.1			659/1188										0	c.(658-660)CGT>CAT			hmmpanther:PTHR10704:SF13,hmmpanther:PTHR10704,Pfam_domain:PF00685,Gene3D:3.40.50.300,PIRSF_domain:PIRSF005883,Superfamily_domains:SSF52540	carbohydrate (N-acetylglucosamine 6-O)				ENSP00000328983		3-Mar									COSM3402478	3-Mar	.		ENST00000332272	Transcript	1		keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	ENSG00000183196	g.chr16:75513068C>T	6938			MODERATE		2.67	medium	getma.org/?cm=msa&ty=f&p=CHST6_HUMAN&rb=40&re=357&var=R220H	NA	getma.org/?cm=var&var=hg19,16,75513068,C,T&fts=all	R220H	--	--	1																																		CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.R220H	1	1		benign(0.26)	p.R220H	NM_021615	NP_067628		tolerated(0.22)	1	CHST6_HUMAN	CHST6	HGNC	Q9GZX3	CHST6_HUMAN					3	839	-			UPI00000467C8	220			Lumenal (Potential).		SNV	CHST6,missense_variant,p.Arg220His,ENST00000332272,NM_021615.4;CHST6,missense_variant,p.Arg220His,ENST00000390664,;RP11-77K12.4,intron_variant,,ENST00000530512,;	uc002fef.2	c.659G>A	839/2958	1	1			c.659G>A						16	SNP	c.(658-660)CGT>CAT	14	14				0	Broad	carbohydrate (N-acetylglucosamine 6-O)			75513068		0.721	ENSG00000183196	3345	g.chr16:75513068C>T	keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity							76.474635	KEEP	20	14	-1	27	30	20	14	-1	77.735905	27	30	0.363636	1	0	0	0	0	1	0	0	0	--	--		0	T			CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.R220H	189	GBM-27-1830-TP	p.R220H	C	GCCGTTGTCACGCGCCAGAGC	NM_021615	NP_067628	75513068	Q9GZX3	CHST6_HUMAN	0			3	839	-	T	T			Missense_Mutation	220			Lumenal (Potential).			
CHST6	4166		GRCh37	16	75513386	75513386	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000332272.4:c.341G>A	p.Arg114His	p.R114H	ENST00000332272	NM_021615.4	114	cGc/cAc	0																																																																																																																																																																																																																																												
CHSY3	337876	broad.mit.edu	GRCh37	5	129243856	129243856	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0213-01	TCGA-06-0213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305031.4:c.889C>G	p.Leu297Val	p.L297V	ENST00000305031	NM_175856.4	297	Ctt/Gtt	0			1			G	L/V	uc003kvd.2	protein_coding	YES	CCDS34223.1			889/2649									ovary(2)|pancreas(1)	3	c.(889-891)CTT>GTT			hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF18,Low_complexity_(Seg):seg,Superfamily_domains:SSF53448	chondroitin sulfate synthase 3				ENSP00000302629		3-Feb									COSM2150829	3-Feb	.		ENST00000305031	Transcript				Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	ENSG00000198108	g.chr5:129243856C>G	24293			MODERATE		0.475	neutral	getma.org/?cm=msa&ty=f&p=CHSS3_HUMAN&rb=241&re=327&var=L297V	NA	getma.org/?cm=var&var=hg19,5,129243856,C,G&fts=all	L297V	--	--	1																																			1	1		benign(0.23)	p.L297V	NM_175856	NP_787052		tolerated(0.05)	1	CHSS3_HUMAN	CHSY3	HGNC	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	Q1JTV1_HUMAN		2	889	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	UPI0000251E08	297			Lumenal (Potential).		SNV	CHSY3,missense_variant,p.Leu297Val,ENST00000305031,NM_175856.4;CTC-575N7.1,upstream_gene_variant,,ENST00000503616,;CTC-575N7.1,upstream_gene_variant,,ENST00000515569,;CHSY3,non_coding_transcript_exon_variant,,ENST00000507545,;	uc003kvd.2	c.889C>G	1247/3850	4	4			c.889C>G						5	SNP	c.(889-891)CTT>GTT	32	32			ovary(2)|pancreas(1)	3	Broad	chondroitin sulfate synthase 3			129243856		0.473	ENSG00000198108	3350	g.chr5:129243856C>G		Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity							91.605455	KEEP	16	15	-1	54	32	16	15	-1	96.24445	54	32	0.280374	1	0	0	0	0	1	0	0	0	--	--		0	G				49	GBM-06-0213-TP	p.L297V	C	TATTGAAGAGCTTGGAAAGCT	NM_175856	NP_787052	129243856	Q70JA7	CHSS3_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	2	889	+	G	G		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	Missense_Mutation	297			Lumenal (Potential).			
CHSY3	337876	broad.mit.edu	GRCh37	5	129244015	129244015	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01	TCGA-06-2558-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305031.4:c.1048C>T	p.Arg350Cys	p.R350C	ENST00000305031	NM_175856.4	350	Cgc/Tgc	0			1			T	R/C	uc003kvd.2	protein_coding	YES	CCDS34223.1			1048/2649									ovary(2)|pancreas(1)	3	c.(1048-1050)CGC>TGC			Pfam_domain:PF05679,hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF18,Superfamily_domains:SSF53448	chondroitin sulfate synthase 3				ENSP00000302629		3-Feb									rs777729488,COSM2152644	3-Feb	.		ENST00000305031	Transcript				Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	ENSG00000198108	g.chr5:129244015C>T	24293			MODERATE		2.135	medium	getma.org/?cm=msa&ty=f&p=CHSS3_HUMAN&rb=328&re=864&var=R350C	NA	getma.org/?cm=var&var=hg19,5,129244015,C,T&fts=all	R350C	--	--	1																																			0,1	1		probably_damaging(0.995)	p.R350C	NM_175856	NP_787052		deleterious(0)	0,1	CHSS3_HUMAN	CHSY3	HGNC	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	Q1JTV1_HUMAN		2	1048	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	UPI0000251E08	350			Lumenal (Potential).		SNV	CHSY3,missense_variant,p.Arg350Cys,ENST00000305031,NM_175856.4;CTC-575N7.1,upstream_gene_variant,,ENST00000503616,;CTC-575N7.1,upstream_gene_variant,,ENST00000515569,;CHSY3,non_coding_transcript_exon_variant,,ENST00000507545,;	uc003kvd.2	c.1048C>T	1406/3850	1	1			c.1048C>T						5	SNP	c.(1048-1050)CGC>TGC	16	16			ovary(2)|pancreas(1)	3	Broad	chondroitin sulfate synthase 3			129244015		0.438	ENSG00000198108	3350	g.chr5:129244015C>T		Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity							117.135295	KEEP	25	20	-1	25	39	25	20	-1	117.610318	25	39	0.422222	1	0	0	0	0	1	0	0	0	--	--		0	T				82	GBM-06-2558-TP	p.R350C	C	AAGATGCGTTCGCCGTTTTGG	NM_175856	NP_787052	129244015	Q70JA7	CHSS3_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	2	1048	+	T	T		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	Missense_Mutation	350			Lumenal (Potential).			
CHUK	0	broad.mit.edu	GRCh37	10	101981868	101981868	+	splice_donor_variant	Splice_Site	SNP	C	C	T			TCGA-14-0790-01	TCGA-14-0790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370397.7:c.385+1G>A		p.X129_splice	ENST00000370397	NM_001278.3			0			1			T		uc001kqp.2	protein_coding	YES	CCDS7488.1			385/2238									ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1)	7	c.e4+1				conserved helix-loop-helix ubiquitous kinase				ENSP00000359424											COSM3396869		.		ENST00000370397	Transcript	1		I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	ENSG00000213341	g.chr10:101981868C>T	1974			HIGH	20-Apr							--	--	1																																			1	1			p.G129_splice	NM_001278	NP_001269			1	IKKA_HUMAN	CHUK	HGNC	O15111	IKKA_HUMAN		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)			4	440	-		Colorectal(252;0.117)	UPI000013D6C7						SNV	CHUK,splice_donor_variant,,ENST00000370397,NM_001278.3;	uc001kqp.2	c.385_splice	-/3625	5	1			c.385_splice						10	SNP	c.e4+1	9	9			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1)	7	Broad	conserved helix-loop-helix ubiquitous kinase			101981868		0.313	ENSG00000213341	3353	g.chr10:101981868C>T	I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	Ovarian(159;52 1904 10536 35305 37148)		415	Ovarian(159;52 1904 10536 35305 37148)		415	56.084452	KEEP	7	12	-1	1	5	7	12	-1	57.274183	1	5	0.73913	1	0	0	0	0	0	0	0	1	--	--		0	T				137	GBM-14-0790-TP	p.G129_splice	C	CTGATACGTACCTATATCACT	NM_001278	NP_001269	101981868	O15111	IKKA_HUMAN	0		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	4	440	-	T	T		Colorectal(252;0.117)	Splice_Site							
CIB4	0	broad.mit.edu	GRCh37	2	26805768	26805768	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288861.4:c.452C>T	p.Ser151Leu	p.S151L	ENST00000288861	NM_001029881.1	151	tCg/tTg	0			1			A	S/L	uc002rhm.2	protein_coding	YES	CCDS33160.1			452/558									ovary(1)	1	c.(451-453)TCG>TTG			Gene3D:1.10.238.10,Pfam_domain:PF13499,PROSITE_profiles:PS50222,hmmpanther:PTHR23056,hmmpanther:PTHR23056:SF35,SMART_domains:SM00054,Superfamily_domains:SSF47473	calcium and integrin binding family member 4				ENSP00000288861		7-Jun	9.88E-05		8.65E-05	0.00127					rs370969445,COSM2156100	7-Jun	common_variant		ENST00000288861	Transcript					calcium ion binding	ENSG00000157884	g.chr2:26805768G>A	33703			MODERATE		-0.055	neutral	getma.org/?cm=msa&ty=f&p=CIB4_HUMAN&rb=100&re=168&var=S151L	getma.org/pdb.php?prot=CIB4_HUMAN&from=100&to=168&var=S151L	getma.org/?cm=var&var=hg19,2,26805768,G,A&fts=all	S151L	--	--	1																																			0,1	1		benign(0.269)	p.S151L	NM_001029881	NP_001025052		deleterious(0)	0,1	CIB4_HUMAN	CIB4	HGNC	A0PJX0	CIB4_HUMAN					6	481	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		UPI0000160176	151			EF-hand 3.		SNV	CIB4,missense_variant,p.Ser151Leu,ENST00000288861,NM_001029881.1;C2orf70,downstream_gene_variant,,ENST00000409392,;C2orf70,downstream_gene_variant,,ENST00000329615,NM_001105519.1;C2orf70,downstream_gene_variant,,ENST00000453368,;CIB4,non_coding_transcript_exon_variant,,ENST00000405346,;CIB4,non_coding_transcript_exon_variant,,ENST00000403670,;C2orf70,downstream_gene_variant,,ENST00000479453,;	uc002rhm.2	c.452C>T	506/773	1	1			c.452C>T						2	SNP	c.(451-453)TCG>TTG	64	64			ovary(1)	1	Broad	calcium and integrin binding family member 4			26805768		0.542	ENSG00000157884	3360	g.chr2:26805768G>A			calcium ion binding							64.936377	KEEP	9	15	-1	19	21	9	15	-1	65.677422	19	21	0.37931	1	0	0	0	0	1	0	0	0	--	--		0	A				160	GBM-19-1790-TP	p.S151L	G	GTCCAGATCCGACTCACTCAG	NM_001029881	NP_001025052	26805768	A0PJX0	CIB4_HUMAN	0			6	481	-	A	A	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Missense_Mutation	151			EF-hand 3.			
CIC	0	broad.mit.edu	GRCh37	19	42795881	42795881	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-27-2521-01	TCGA-27-2521-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000575354.2:c.2872delC	p.Gln958SerfsTer9	p.Q958Sfs*9	ENST00000575354	NM_015125.3	957	gCc/gc	0			1			-	A/X	uc002otf.1	protein_coding	YES	CCDS12601.1			2870/4827	T		DUX4		soft tissue sarcoma				ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11	c.(2869-2871)GCCfs			hmmpanther:PTHR13059:SF11,hmmpanther:PTHR13059	capicua homolog				ENSP00000458663		20-Nov										20-Nov	.		ENST00000575354	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	ENSG00000079432	g.chr19:42795881delC	14214	2		HIGH								--	--	1																																				1			p.A957fs	NM_015125	NP_055940				CIC_HUMAN	CIC	HGNC	Q96RK0	CIC_HUMAN					11	2910	+		Prostate(69;0.00682)	UPI000013C5A0	957			Pro-rich.		deletion	CIC,frameshift_variant,p.Gln1867SerfsTer9,ENST00000572681,;CIC,frameshift_variant,p.Gln958SerfsTer9,ENST00000160740,;CIC,frameshift_variant,p.Gln958SerfsTer9,ENST00000575354,NM_015125.3;CIC,upstream_gene_variant,,ENST00000576505,;CIC,upstream_gene_variant,,ENST00000573349,;CIC,downstream_gene_variant,,ENST00000575839,;CIC,upstream_gene_variant,,ENST00000575287,;CIC,upstream_gene_variant,,ENST00000571033,;	uc002otf.1	c.2870delC	2910/5473	5	5			c.2870delC	T		DUX4		soft tissue sarcoma	19	DEL	c.(2869-2871)GCCfs	6	6			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11	Broad	capicua homolog			42795881		0.602	ENSG00000079432	3361	g.chr19:42795881delC	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			241			241														0.2	1	1	0	1	0	0	0	0	0	--	--		0	-				200	GBM-27-2521-TP	p.A957fs	C	CAGAATGGTGCCCAGCCCCCC	NM_015125	NP_055940	42795881	Q96RK0	CIC_HUMAN	0			11	2910	+	-	-		Prostate(69;0.00682)	Frame_Shift_Del	957			Pro-rich.			
CIDEA	1149	broad.mit.edu	GRCh37	18	12262928	12262928	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs149949331	byFrequency	TCGA-06-0875-01	TCGA-06-0875-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320477.9:c.143G>A	p.Arg48His	p.R48H	ENST00000320477	NM_001279.3	48	cGt/cAt	0	A:0		1			A	R/H	uc002kqt.3	protein_coding	YES	CCDS11856.1			143/660									ovary(1)|central_nervous_system(1)	2	c.(142-144)CGT>CAT			PROSITE_profiles:PS51135,hmmpanther:PTHR12306:SF8,hmmpanther:PTHR12306,Gene3D:3.10.20.10,Pfam_domain:PF02017,SMART_domains:SM00266,Superfamily_domains:SSF54277	cell death-inducing DFFA-like effector a isoform			A:0.0001	ENSP00000320209		5-Feb	5.77E-05					7.52E-05		0.000121	rs149949331,COSM2152038,COSM3403432	5-Feb	.		ENST00000320477	Transcript			DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity	ENSG00000176194	g.chr18:12262928G>A	1976			MODERATE		1.035	low	getma.org/?cm=msa&ty=f&p=CIDEA_HUMAN&rb=33&re=110&var=R48H	getma.org/pdb.php?prot=CIDEA_HUMAN&from=33&to=110&var=R48H	getma.org/?cm=var&var=hg19,18,12262928,G,A&fts=all	R48H	--	--	1																																		CIDEA_uc002kqu.3_Missense_Mutation_p.R82H|CIDEA_uc010dlc.2_RNA	0,1,1	1		probably_damaging(0.993)	p.R48H	NM_001279	NP_001270		deleterious(0.04)	0,1,1	CIDEA_HUMAN	CIDEA	HGNC	O60543	CIDEA_HUMAN					2	208	+			UPI0000049059	48			CIDE-N.		SNV	CIDEA,missense_variant,p.Arg48His,ENST00000320477,NM_001279.3;CIDEA,non_coding_transcript_exon_variant,,ENST00000521296,;CIDEA,non_coding_transcript_exon_variant,,ENST00000520620,;CIDEA,3_prime_UTR_variant,,ENST00000522713,;	uc002kqt.3	c.143G>A	208/828	2	2			c.143G>A						18	SNP	c.(142-144)CGT>CAT	30	30			ovary(1)|central_nervous_system(1)	2	Broad	cell death-inducing DFFA-like effector a isoform			12262928		0.622	ENSG00000176194	3362	g.chr18:12262928G>A	DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity							97.893287	KEEP	21	32	-1	36	36	21	32	-1	98.086387	36	36	0.444444	1	0	0	0	0	1	0	0	0	--	--		0	A			CIDEA_uc002kqu.3_Missense_Mutation_p.R82H|CIDEA_uc010dlc.2_RNA	71	GBM-06-0875-TP	p.R48H	G	AGCAGCCGGCGTGGGGTGATG	NM_001279	NP_001270	12262928	O60543	CIDEA_HUMAN	0			2	208	+	A	A			Missense_Mutation	48			CIDE-N.			
CIDEA	0	broad.mit.edu	GRCh37	18	12274219	12274219	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-16-0861-01	TCGA-16-0861-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320477.9:c.458A>T	p.Glu153Val	p.E153V	ENST00000320477	NM_001279.3	153	gAg/gTg	0			1			T	E/V	uc002kqt.3	protein_coding	YES	CCDS11856.1			458/660									ovary(1)|central_nervous_system(1)	2	c.(457-459)GAG>GTG			hmmpanther:PTHR12306:SF8,hmmpanther:PTHR12306	cell death-inducing DFFA-like effector a isoform				ENSP00000320209		5-Apr									COSM3403433,COSM3403434	5-Apr	.		ENST00000320477	Transcript			DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity	ENSG00000176194	g.chr18:12274219A>T	1976			MODERATE		2.28	medium	getma.org/?cm=msa&ty=f&p=CIDEA_HUMAN&rb=111&re=219&var=E153V	NA	getma.org/?cm=var&var=hg19,18,12274219,A,T&fts=all	E153V	--	--	1																																		CIDEA_uc002kqu.3_Missense_Mutation_p.E187V|CIDEA_uc010dlc.2_RNA	1,1	1		probably_damaging(0.989)	p.E153V	NM_001279	NP_001270		deleterious(0.01)	1,1	CIDEA_HUMAN	CIDEA	HGNC	O60543	CIDEA_HUMAN					4	523	+			UPI0000049059	153					SNV	CIDEA,missense_variant,p.Glu153Val,ENST00000320477,NM_001279.3;CIDEA,non_coding_transcript_exon_variant,,ENST00000521296,;CIDEA,intron_variant,,ENST00000520620,;CIDEA,3_prime_UTR_variant,,ENST00000522713,;	uc002kqt.3	c.458A>T	523/828	2	2			c.458A>T						18	SNP	c.(457-459)GAG>GTG	38	38			ovary(1)|central_nervous_system(1)	2	Broad	cell death-inducing DFFA-like effector a isoform			12274219		0.587	ENSG00000176194	3362	g.chr18:12274219A>T	DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity							102.604834	KEEP	19	27	-1	60	61	19	27	-1	109.71607	60	61	0.271523	1	0	0	0	0	1	0	0	0	--	--		0	T			CIDEA_uc002kqu.3_Missense_Mutation_p.E187V|CIDEA_uc010dlc.2_RNA	156	GBM-16-0861-TP	p.E153V	A	ACCATGTATGAGATGTACTCC	NM_001279	NP_001270	12274219	O60543	CIDEA_HUMAN	0			4	523	+	T	T			Missense_Mutation	153						
CIDEA	0	broad.mit.edu	GRCh37	18	12274238	12274238	+	synonymous_variant	Silent	SNP	C	C	T	rs143526030	byFrequency	TCGA-19-5955-01	TCGA-19-5955-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320477.9:c.477C>T	p.Tyr159=	p.Y159=	ENST00000320477	NM_001279.3	159	taC/taT	0	T:0		1			T	Y	uc002kqt.3	protein_coding	YES	CCDS11856.1			477/660									ovary(1)|central_nervous_system(1)	2	c.(475-477)TAC>TAT			hmmpanther:PTHR12306:SF8,hmmpanther:PTHR12306	cell death-inducing DFFA-like effector a isoform			T:0.0002	ENSP00000320209		5-Apr	0.000132					0.000211	0.0011	6.06E-05	rs143526030,COSM1387790,COSM3403435	5-Apr	.		ENST00000320477	Transcript			DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity	ENSG00000176194	g.chr18:12274238C>T	1976			LOW								--	--	1																																		CIDEA_uc002kqu.3_Silent_p.Y193Y|CIDEA_uc010dlc.2_RNA	0,1,1	1			p.Y159Y	NM_001279	NP_001270			0,1,1	CIDEA_HUMAN	CIDEA	HGNC	O60543	CIDEA_HUMAN					4	542	+			UPI0000049059	159					SNV	CIDEA,synonymous_variant,p.=,ENST00000320477,NM_001279.3;CIDEA,non_coding_transcript_exon_variant,,ENST00000521296,;CIDEA,intron_variant,,ENST00000520620,;CIDEA,3_prime_UTR_variant,,ENST00000522713,;	uc002kqt.3	c.477C>T	542/828	2	2			c.477C>T						18	SNP	c.(475-477)TAC>TAT	17	17			ovary(1)|central_nervous_system(1)	2	Broad	cell death-inducing DFFA-like effector a isoform			12274238		0.587	ENSG00000176194	3362	g.chr18:12274238C>T	DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity							37.130181	KEEP	8	13	-1	45	69	8	13	-1	50.881801	45	69	0.16	1	0	0	0	0	0	0	1	0	--	--		0	T			CIDEA_uc002kqu.3_Silent_p.Y193Y|CIDEA_uc010dlc.2_RNA	175	GBM-19-5955-TP	p.Y159Y	C	CCGTGTCCTACGACATCCGGT	NM_001279	NP_001270	12274238	O60543	CIDEA_HUMAN	0			4	542	+	T	T			Silent	159						
CIITA	4261	broad.mit.edu	GRCh37	16	11002910	11002910	+	synonymous_variant	Silent	SNP	G	G	A	rs148091568	byFrequency	TCGA-06-0190-01	TCGA-06-0190-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324288.8:c.2682G>A	p.Ala894=	p.A894=	ENST00000324288	NM_000246.3	894	gcG/gcA	0	A:0.0014	A:0.0008	1	A:0.0014		A	A	uc002dai.3	protein_coding	YES	CCDS10544.1			2682/3393	T		FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75		PMBL|Hodgkin Lymphona|				central_nervous_system(1)	1	c.(2680-2682)GCG>GCA			hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF104	class II transactivator		A:0.003	A:0.0002	ENSP00000316328	A:0	20-Dec	0.000733	0.000682	0.000606	0.00614		0.000302	0.00111	6.06E-05	rs148091568,COSM966956	20-Dec	common_variant		ENST00000324288	Transcript	1	A:0.0010	interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	ENSG00000179583	g.chr16:11002910G>A	7067			LOW								--	--	1																																		CIITA_uc002daj.3_Silent_p.A895A|CIITA_uc002dak.3_Silent_p.A310A|CIITA_uc010bup.1_Intron	0,1	1			p.A894A	NM_000246	NP_000237	A:0		0,1	C2TA_HUMAN	CIITA	HGNC	P33076	C2TA_HUMAN			I3L2E5_HUMAN		12	2815	+			UPI0000456914	894					SNV	CIITA,synonymous_variant,p.=,ENST00000324288,NM_000246.3,NM_001286402.1;CIITA,synonymous_variant,p.=,ENST00000381835,NM_001286403.1;CIITA,intron_variant,,ENST00000537380,;CIITA,non_coding_transcript_exon_variant,,ENST00000570546,;CIITA,downstream_gene_variant,,ENST00000573309,;	uc002dai.3	c.2682G>A	2815/9438	1	1			c.2682G>A	T		FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75		PMBL|Hodgkin Lymphona|	16	SNP	c.(2680-2682)GCG>GCA	62	62			central_nervous_system(1)	1	Broad	class II transactivator			11002910		0.602	ENSG00000179583	3365	g.chr16:11002910G>A	interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			532			532	65.544661	KEEP	17	13	-1	28	34	17	13	-1	68.329621	28	34	0.304878	1	0	0	0	0	0	0	1	0	--	--		0	A			CIITA_uc002daj.3_Silent_p.A895A|CIITA_uc002dak.3_Silent_p.A310A|CIITA_uc010bup.1_Intron	43	GBM-06-0190-TP	p.A894A	G	ACACGGTGGCGCTGTGGGAGT	NM_000246	NP_000237	11002910	P33076	C2TA_HUMAN	0			12	2815	+	A	A			Silent	894						
CIITA	4261	broad.mit.edu	GRCh37	16	10992859	10992859	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0745-01	TCGA-06-0745-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324288.8:c.436C>T	p.Pro146Ser	p.P146S	ENST00000324288	NM_000246.3	146	Ccc/Tcc	0	T:0		1			T	P/S	uc002dai.3	protein_coding	YES	CCDS10544.1			436/3393	T		FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75		PMBL|Hodgkin Lymphona|				central_nervous_system(1)	1	c.(436-438)CCC>TCC				class II transactivator			T:0.0001	ENSP00000316328		20-May	5.77E-05			0.000116		7.50E-05		6.06E-05	rs376464815,COSM2151741	20-May	.		ENST00000324288	Transcript	1		interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	ENSG00000179583	g.chr16:10992859C>T	7067			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=C2TA_HUMAN&rb=1&re=200&var=P146S	NA	getma.org/?cm=var&var=hg19,16,10992859,C,T&fts=all	P146S	--	--	1																																		CIITA_uc002daj.3_Missense_Mutation_p.P147S|CIITA_uc002dak.3_Missense_Mutation_p.P146S|CIITA_uc002dag.2_Missense_Mutation_p.P146S|CIITA_uc002dah.2_Missense_Mutation_p.P147S|CIITA_uc010bup.1_Missense_Mutation_p.P146S	0,1	1		benign(0.01)	p.P146S	NM_000246	NP_000237		tolerated(0.49)	0,1	C2TA_HUMAN	CIITA	HGNC	P33076	C2TA_HUMAN			I3L2E5_HUMAN		5	569	+			UPI0000456914	146					SNV	CIITA,missense_variant,p.Pro146Ser,ENST00000324288,NM_000246.3,NM_001286402.1;CIITA,missense_variant,p.Pro146Ser,ENST00000381835,NM_001286403.1;CIITA,missense_variant,p.Pro122Ser,ENST00000576601,;CIITA,splice_region_variant,,ENST00000537380,;CIITA,missense_variant,p.Pro146Ser,ENST00000571186,;CIITA,splice_region_variant,,ENST00000570546,;CIITA,splice_region_variant,,ENST00000573309,;CIITA,upstream_gene_variant,,ENST00000571190,;	uc002dai.3	c.436C>T	569/9438	1	1			c.436C>T	T		FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75		PMBL|Hodgkin Lymphona|	16	SNP	c.(436-438)CCC>TCC	2	2			central_nervous_system(1)	1	Broad	class II transactivator			10992859		0.512	ENSG00000179583	3365	g.chr16:10992859C>T	interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			532			532	70.306995	KEEP	13	13	-1	33	27	13	13	-1	73.171674	33	27	0.305882	1	0	0	0	0	1	0	0	0	--	--		0	T			CIITA_uc002daj.3_Missense_Mutation_p.P147S|CIITA_uc002dak.3_Missense_Mutation_p.P146S|CIITA_uc002dag.2_Missense_Mutation_p.P146S|CIITA_uc002dah.2_Missense_Mutation_p.P147S|CIITA_uc010bup.1_Missense_Mutation_p.P146S	67	GBM-06-0745-TP	p.P146S	C	TCAGAAAAGACGTGAGTGAGC	NM_000246	NP_000237	10992859	P33076	C2TA_HUMAN	0			5	569	+	T	T			Missense_Mutation	146						
CIITA	0	broad.mit.edu	GRCh37	16	11004047	11004047	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01	TCGA-41-5651-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324288.8:c.2819C>T	p.Thr940Met	p.T940M	ENST00000324288	NM_000246.3	940	aCg/aTg	0			1			T	T/M	uc002dai.3	protein_coding	YES	CCDS10544.1			2819/3393	T		FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75		PMBL|Hodgkin Lymphona|				central_nervous_system(1)	1	c.(2818-2820)ACG>ATG			hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF104	class II transactivator				ENSP00000316328		13/20	0.000107		0.00018			0.000171			rs764478189,COSM3402058	13/20	.		ENST00000324288	Transcript	1		interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	ENSG00000179583	g.chr16:11004047C>T	7067			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=C2TA_HUMAN&rb=786&re=983&var=T940M	NA	getma.org/?cm=var&var=hg19,16,11004047,C,T&fts=all	T940M	--	--	1																																		CIITA_uc002daj.3_Missense_Mutation_p.T941M|CIITA_uc002dak.3_Missense_Mutation_p.T356M|CIITA_uc010bup.1_Nonsense_Mutation_p.R337*	0,1	1		benign(0.029)	p.T940M	NM_000246	NP_000237		tolerated(0.54)	0,1	C2TA_HUMAN	CIITA	HGNC	P33076	C2TA_HUMAN			I3L2E5_HUMAN		13	2952	+			UPI0000456914	940		Missing (in BLS2).			SNV	CIITA,missense_variant,p.Thr940Met,ENST00000324288,NM_000246.3,NM_001286402.1;CIITA,missense_variant,p.Thr356Met,ENST00000381835,NM_001286403.1;CIITA,splice_region_variant,,ENST00000537380,;CIITA,splice_region_variant,,ENST00000570546,;CIITA,downstream_gene_variant,,ENST00000573309,;	uc002dai.3	c.2819C>T	2952/9438	1	1			c.2819C>T	T		FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75		PMBL|Hodgkin Lymphona|	16	SNP	c.(2818-2820)ACG>ATG	6	6			central_nervous_system(1)	1	Broad	class II transactivator			11004047		0.572	ENSG00000179583	3365	g.chr16:11004047C>T	interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			532			532	22.292874	KEEP	4	5	-1	10	5	4	5	-1	22.653241	10	5	0.363636	1	0	0	0	0	1	0	0	0	--	--		0	T			CIITA_uc002daj.3_Missense_Mutation_p.T941M|CIITA_uc002dak.3_Missense_Mutation_p.T356M|CIITA_uc010bup.1_Nonsense_Mutation_p.R337*	258	GBM-41-5651-TP	p.T940M	C	CTCTCCAGGACGAGAAGTTCC	NM_000246	NP_000237	11004047	P33076	C2TA_HUMAN	0			13	2952	+	T	T			Missense_Mutation	940		Missing (in BLS2).				
CIITA	4261		GRCh37	16	10997663	10997663	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000324288.8:c.848G>A	p.Arg283Gln	p.R283Q	ENST00000324288	NM_000246.3	283	cGg/cAg	0																																																																																																																																																																																																																																												
CILP	8483	broad.mit.edu	GRCh37	15	65490345	65490345	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01	TCGA-06-0122-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261883.4:c.2279G>A	p.Arg760Gln	p.R760Q	ENST00000261883	NM_003613.3	760	cGg/cAg	0			1			T	R/Q	uc002aon.2	protein_coding	YES	CCDS10203.1			2279/3555									ovary(4)|pancreas(2)|skin(1)	7	c.(2278-2280)CGG>CAG			hmmpanther:PTHR15031,hmmpanther:PTHR15031:SF3	cartilage intermediate layer protein				ENSP00000261883		9-Sep	4.94E-05		8.64E-05			1.50E-05	0.0011	0.000182	rs769904740,COSM964026	9-Sep	.		ENST00000261883	Transcript	1		negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		ENSG00000138615	g.chr15:65490345C>T	1980			MODERATE		1.6	low	getma.org/?cm=msa&ty=f&p=CILP1_HUMAN&rb=411&re=1180&var=R760Q	NA	getma.org/?cm=var&var=hg19,15,65490345,C,T&fts=all	R760Q	--	--	1																																			0,1	1		probably_damaging(0.99)	p.R760Q	NM_003613	NP_003604		tolerated(0.51)	0,1	CILP1_HUMAN	CILP	HGNC	O75339	CILP1_HUMAN					9	2460	-			UPI000013D21B	760					SNV	CILP,missense_variant,p.Arg760Gln,ENST00000261883,NM_003613.3;	uc002aon.2	c.2279G>A	2446/4454	2	2			c.2279G>A						15	SNP	c.(2278-2280)CGG>CAG	25	25			ovary(4)|pancreas(2)|skin(1)	7	Broad	cartilage intermediate layer protein			65490345		0.547	ENSG00000138615	3366	g.chr15:65490345C>T	negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix								212.125306	KEEP	48	26	-1	68	51	48	26	-1	214.24262	68	51	0.384615	1	0	0	0	0	1	0	0	0	--	--		0	T				10	GBM-06-0122-TP	p.R760Q	C	CCTCTCACTCCGGTAGGCCCT	NM_003613	NP_003604	65490345	O75339	CILP1_HUMAN	0			9	2460	-	T	T			Missense_Mutation	760						
CILP	8483	broad.mit.edu	GRCh37	15	65489345	65489345	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-5415-01	TCGA-06-5415-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261883.4:c.3279C>A	p.Gly1093=	p.G1093=	ENST00000261883	NM_003613.3	1093	ggC/ggA	0			1			T	G	uc002aon.2	protein_coding	YES	CCDS10203.1			3279/3555									ovary(4)|pancreas(2)|skin(1)	7	c.(3277-3279)GGC>GGA			hmmpanther:PTHR15031,hmmpanther:PTHR15031:SF3	cartilage intermediate layer protein				ENSP00000261883		9-Sep									COSM2153226	9-Sep	.		ENST00000261883	Transcript	1		negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		ENSG00000138615	g.chr15:65489345G>T	1980			LOW								--	--	1																																			1	1			p.G1093G	NM_003613	NP_003604			1	CILP1_HUMAN	CILP	HGNC	O75339	CILP1_HUMAN					9	3460	-			UPI000013D21B	1093					SNV	CILP,synonymous_variant,p.=,ENST00000261883,NM_003613.3;	uc002aon.2	c.3279C>A	3446/4454	1	1			c.3279C>A						15	SNP	c.(3277-3279)GGC>GGA	9	9			ovary(4)|pancreas(2)|skin(1)	7	Broad	cartilage intermediate layer protein			65489345		0.582	ENSG00000138615	3366	g.chr15:65489345G>T	negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix								86.28848	KEEP	19	15	0.558823529	26	27	19	15	0.558823529	87.270962	26	27	0.382716	1	0	0	0	0	0	0	1	0	--	--		0	T				98	GBM-06-5415-TP	p.G1093G	G	CAAAGCACCGGCCGAGCGCGA	NM_003613	NP_003604	65489345	O75339	CILP1_HUMAN	0			9	3460	-	T	T			Silent	1093						
CILP	0	broad.mit.edu	GRCh37	15	65495753	65495753	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2494-01	TCGA-32-2494-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261883.4:c.975C>T	p.Ser325=	p.S325=	ENST00000261883	NM_003613.3	325	agC/agT	0		A:0	1	A:0		A	S	uc002aon.2	protein_coding	YES	CCDS10203.1			975/3555									ovary(4)|pancreas(2)|skin(1)	7	c.(973-975)AGC>AGT			PROSITE_profiles:PS50835,hmmpanther:PTHR15031,hmmpanther:PTHR15031:SF3,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	cartilage intermediate layer protein		A:0		ENSP00000261883	A:0.001	9-Jul	2.47E-05					4.50E-05			rs193195655,COSM2256386	9-Jul	.		ENST00000261883	Transcript	1	A:0.0002	negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		ENSG00000138615	g.chr15:65495753G>A	1980			LOW								--	--	1																																			0,1	1			p.S325S	NM_003613	NP_003604	A:0		0,1	CILP1_HUMAN	CILP	HGNC	O75339	CILP1_HUMAN					7	1156	-			UPI000013D21B	325			Ig-like C2-type.		SNV	CILP,synonymous_variant,p.=,ENST00000261883,NM_003613.3;	uc002aon.2	c.975C>T	1142/4454	1	1			c.975C>T						15	SNP	c.(973-975)AGC>AGT	49	49			ovary(4)|pancreas(2)|skin(1)	7	Broad	cartilage intermediate layer protein			65495753		0.498	ENSG00000138615	3366	g.chr15:65495753G>A	negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix								139.169499	KEEP	30	39	-1	75	73	30	39	-1	145.902402	75	73	0.296703	1	0	0	0	0	0	0	1	0	--	--		0	A				236	GBM-32-2494-TP	p.S325S	G	ACAGAGACACGCTCTGCCCAG	NM_003613	NP_003604	65495753	O75339	CILP1_HUMAN	0			7	1156	-	A	A			Silent	325			Ig-like C2-type.			
CILP	8483		GRCh37	15	65489544	65489544	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000261883.4:c.3080T>C	p.Val1027Ala	p.V1027A	ENST00000261883	NM_003613.3	1027	gTc/gCc	0																																																																																																																																																																																																																																												
CILP2	148113	broad.mit.edu	GRCh37	19	19653191	19653191	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000291495.5:c.600C>T	p.Ser200=	p.S200=	ENST00000291495	NM_153221.2	200	agC/agT	0			1			T	S	uc002nmv.3	protein_coding	YES	CCDS12405.1			600/3471									ovary(1)	1	c.(598-600)AGC>AGT			hmmpanther:PTHR15031:SF0,hmmpanther:PTHR15031	cartilage intermediate layer protein 2				ENSP00000291495		8-May									COSM3403991	8-May	.		ENST00000291495	Transcript				proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	ENSG00000160161	g.chr19:19653191C>T	24213			LOW								--	--	1																																		CILP2_uc002nmw.3_Silent_p.S206S	1	1			p.S200S	NM_153221	NP_694953			1	CILP2_HUMAN	CILP2	HGNC	Q8IUL8	CILP2_HUMAN					5	685	+			UPI000013E04D	200					SNV	CILP2,synonymous_variant,p.=,ENST00000586018,;CILP2,synonymous_variant,p.=,ENST00000291495,NM_153221.2;YJEFN3,downstream_gene_variant,,ENST00000514277,NM_198537.3;YJEFN3,downstream_gene_variant,,ENST00000436027,NM_001190328.1;CILP2,non_coding_transcript_exon_variant,,ENST00000588333,;YJEFN3,downstream_gene_variant,,ENST00000458210,;	uc002nmv.3	c.600C>T	685/4199	2	2			c.600C>T						19	SNP	c.(598-600)AGC>AGT	45	45			ovary(1)	1	Broad	cartilage intermediate layer protein 2			19653191		0.582	ENSG00000160161	3367	g.chr19:19653191C>T		proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity							39.50062	KEEP	9	8	-1	23	28	9	8	-1	41.90072	23	28	0.277778	1	0	0	0	0	0	0	1	0	--	--		0	T			CILP2_uc002nmw.3_Silent_p.S206S	65	GBM-06-0743-TP	p.S200S	C	CAGGGTGCAGCCTTGACACCT	NM_153221	NP_694953	19653191	Q8IUL8	CILP2_HUMAN	0			5	685	+	T	T			Silent	200						
CILP2	0	broad.mit.edu	GRCh37	19	19654993	19654993	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1991-01	TCGA-32-1991-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000291495.5:c.1639G>A	p.Val547Met	p.V547M	ENST00000291495	NM_153221.2	547	Gtg/Atg	0			1			A	V/M	uc002nmv.3	protein_coding	YES	CCDS12405.1			1639/3471									ovary(1)	1	c.(1639-1641)GTG>ATG			hmmpanther:PTHR15031:SF0,hmmpanther:PTHR15031	cartilage intermediate layer protein 2				ENSP00000291495		8-Aug									COSM1743021	8-Aug	.		ENST00000291495	Transcript				proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	ENSG00000160161	g.chr19:19654993G>A	24213			MODERATE		1.975	medium	getma.org/?cm=msa&ty=f&p=CILP2_HUMAN&rb=399&re=1132&var=V547M	NA	getma.org/?cm=var&var=hg19,19,19654993,G,A&fts=all	V547M	--	--	1																																		CILP2_uc002nmw.3_Missense_Mutation_p.V553M	1	1		probably_damaging(0.987)	p.V547M	NM_153221	NP_694953		deleterious(0)	1	CILP2_HUMAN	CILP2	HGNC	Q8IUL8	CILP2_HUMAN					8	1724	+			UPI000013E04D	547					SNV	CILP2,missense_variant,p.Val553Met,ENST00000586018,;CILP2,missense_variant,p.Val547Met,ENST00000291495,NM_153221.2;CILP2,downstream_gene_variant,,ENST00000588333,;	uc002nmv.3	c.1639G>A	1724/4199	2	2			c.1639G>A						19	SNP	c.(1639-1641)GTG>ATG	21	21			ovary(1)	1	Broad	cartilage intermediate layer protein 2			19654993		0.622	ENSG00000160161	3367	g.chr19:19654993G>A		proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity							307.654925	KEEP	50	56	-1	66	72	50	56	-1	308.445306	66	72	0.437229	1	0	0	0	0	1	0	0	0	--	--		0	A			CILP2_uc002nmw.3_Missense_Mutation_p.V553M	234	GBM-32-1991-TP	p.V547M	G	AGGTGCCGGCGTGTACCACGA	NM_153221	NP_694953	19654993	Q8IUL8	CILP2_HUMAN	0			8	1724	+	A	A			Missense_Mutation	547						
CILP2	0	broad.mit.edu	GRCh37	19	19654993	19654993	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000291495.5:c.1639G>A	p.Val547Met	p.V547M	ENST00000291495	NM_153221.2	547	Gtg/Atg	0			1			A	V/M	uc002nmv.3	protein_coding	YES	CCDS12405.1			1639/3471									ovary(1)	1	c.(1639-1641)GTG>ATG			hmmpanther:PTHR15031:SF0,hmmpanther:PTHR15031	cartilage intermediate layer protein 2				ENSP00000291495		8-Aug									COSM1743021	8-Aug	.		ENST00000291495	Transcript				proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	ENSG00000160161	g.chr19:19654993G>A	24213			MODERATE		1.975	medium	getma.org/?cm=msa&ty=f&p=CILP2_HUMAN&rb=399&re=1132&var=V547M	NA	getma.org/?cm=var&var=hg19,19,19654993,G,A&fts=all	V547M	--	--	1																																		CILP2_uc002nmw.3_Missense_Mutation_p.V553M	1	1		probably_damaging(0.987)	p.V547M	NM_153221	NP_694953		deleterious(0)	1	CILP2_HUMAN	CILP2	HGNC	Q8IUL8	CILP2_HUMAN					8	1724	+			UPI000013E04D	547					SNV	CILP2,missense_variant,p.Val553Met,ENST00000586018,;CILP2,missense_variant,p.Val547Met,ENST00000291495,NM_153221.2;CILP2,downstream_gene_variant,,ENST00000588333,;	uc002nmv.3	c.1639G>A	1724/4199	2	2			c.1639G>A						19	SNP	c.(1639-1641)GTG>ATG	21	21			ovary(1)	1	Broad	cartilage intermediate layer protein 2			19654993		0.622	ENSG00000160161	3367	g.chr19:19654993G>A		proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity							207.69397	KEEP	36	37	-1	53	56	36	37	-1	208.906359	53	56	0.410405	1	0	0	0	0	1	0	0	0	--	--		0	A			CILP2_uc002nmw.3_Missense_Mutation_p.V553M	271	GBM-76-4932-TP	p.V547M	G	AGGTGCCGGCGTGTACCACGA	NM_153221	NP_694953	19654993	Q8IUL8	CILP2_HUMAN	0			8	1724	+	A	A			Missense_Mutation	547						
CILP2	148113		GRCh37	19	19656153	19656153	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000291495.5:c.2799G>A	p.Pro933=	p.P933=	ENST00000291495	NM_153221.2	933	ccG/ccA	0																																																																																																																																																																																																																																												
CILP2	148113		GRCh37	19	19655680	19655680	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000291495.5:c.2326C>T	p.Arg776Cys	p.R776C	ENST00000291495	NM_153221.2	776	Cgt/Tgt	0																																																																																																																																																																																																																																												
CILP2	148113		GRCh37	19	19655518	19655518	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000291495.5:c.2164C>T	p.Arg722Trp	p.R722W	ENST00000291495	NM_153221.2	722	Cgg/Tgg	0																																																																																																																																																																																																																																												
CILP2	148113		GRCh37	19	19656132	19656132	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000291495.5:c.2778C>G	p.Leu926=	p.L926=	ENST00000291495	NM_153221.2	926	ctC/ctG	0																																																																																																																																																																																																																																												
CIRH1A	0	broad.mit.edu	GRCh37	16	69201051	69201051	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs34057086	byFrequency	TCGA-15-0742-01	TCGA-15-0742-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314423.7:c.1907G>A	p.Arg636His	p.R636H	ENST00000314423		636	cGc/cAc	0	A:0.0032	A:0.0008	1	A:0		A	R/H	uc002ews.3	protein_coding	YES	CCDS10872.1			1907/2061										0	c.(1906-1908)CGC>CAC			hmmpanther:PTHR22841,hmmpanther:PTHR22841:SF4	cirhin		A:0	A:0.0001	ENSP00000327179	A:0	16/17	0.000412	0.00423	0.000173			5.99E-05			rs34057086,COSM3402441	16/17	common_variant		ENST00000314423	Transcript	1	A:0.0002		nucleolus	protein binding	ENSG00000141076	g.chr16:69201051G>A	1983			MODERATE		0.41	neutral	getma.org/?cm=msa&ty=f&p=CIR1A_HUMAN&rb=512&re=686&var=R636H	NA	getma.org/?cm=var&var=hg19,16,69201051,G,A&fts=all	R636H	--	--	1																																		CIRH1A_uc002ewr.2_3'UTR|CIRH1A_uc002ewt.3_Missense_Mutation_p.R553H|CIRH1A_uc010cfi.2_Missense_Mutation_p.R438H	0,1	1		benign(0.003)	p.R636H	NM_032830	NP_116219	A:0	tolerated(0.07)	0,1	CIR1A_HUMAN	CIRH1A	HGNC	Q969X6	CIR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.125)	J3KTR0_HUMAN,J3KSE6_HUMAN,H3BPD7_HUMAN		16	2003	+			UPI0000037300	636					SNV	CIRH1A,missense_variant,p.Arg636His,ENST00000314423,;CIRH1A,missense_variant,p.Arg650His,ENST00000562237,NM_032830.2;CIRH1A,missense_variant,p.Arg521His,ENST00000352319,;CIRH1A,3_prime_UTR_variant,,ENST00000563094,;CIRH1A,intron_variant,,ENST00000567500,;CIRH1A,non_coding_transcript_exon_variant,,ENST00000567287,;	uc002ews.3	c.1907G>A	2084/2322	2	2			c.1907G>A						16	SNP	c.(1906-1908)CGC>CAC	42	42				0	Broad	cirhin			69201051		0.348	ENSG00000141076	3371	g.chr16:69201051G>A		nucleolus	protein binding	Melanoma(69;1156 1278 4951 8715 52012)			Melanoma(69;1156 1278 4951 8715 52012)			192.538737	KEEP	30	46	-1	53	51	30	46	-1	193.769269	53	51	0.40625	1	0	0	0	0	1	0	0	0	--	--		0	A			CIRH1A_uc002ewr.2_3'UTR|CIRH1A_uc002ewt.3_Missense_Mutation_p.R553H|CIRH1A_uc010cfi.2_Missense_Mutation_p.R438H	153	GBM-15-0742-TP	p.R636H	G	ATCCGGAGGCGCACAGCTCAT	NM_032830	NP_116219	69201051	Q969X6	CIR1A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.125)	16	2003	+	A	A			Missense_Mutation	636						
CIT	11113	broad.mit.edu	GRCh37	12	120142198	120142198	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0216-01	TCGA-06-0216-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392521.2:c.5274C>T	p.Asn1758=	p.N1758=	ENST00000392521	NM_001206999.1	1758	aaC/aaT	0			1			A	N	uc001txi.1	protein_coding		CCDS9192.1			5148/6084									ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	c.(5146-5148)AAC>AAT			PROSITE_profiles:PS50219,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF26,Pfam_domain:PF00780,PIRSF_domain:PIRSF038145,SMART_domains:SM00036	citron				ENSP00000261833		40/47	4.94E-05		0.000259			1.50E-05	0.0011	6.06E-05	rs780981739,COSM2150894,COSM2150893,COSM2150892	40/47	.		ENST00000261833	Transcript			intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	ENSG00000122966	g.chr12:120142198G>A	1985			LOW								--	--	1																																		CIT_uc001txh.1_Silent_p.N1235N|CIT_uc001txj.1_Silent_p.N1758N	0,1,1,1				p.N1716N	NM_007174	NP_009105			0,1,1,1	CTRO_HUMAN	CIT	HGNC	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)			40	5201	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	UPI00001908FD	1716			CNH.		SNV	CIT,synonymous_variant,p.=,ENST00000392521,NM_001206999.1;CIT,synonymous_variant,p.=,ENST00000261833,NM_007174.2;CIT,synonymous_variant,p.=,ENST00000392520,;RP1-127H14.3,downstream_gene_variant,,ENST00000535109,;CIT,non_coding_transcript_exon_variant,,ENST00000537607,;CIT,non_coding_transcript_exon_variant,,ENST00000543324,;CIT,non_coding_transcript_exon_variant,,ENST00000545913,;CIT,non_coding_transcript_exon_variant,,ENST00000538073,;	uc001txi.1	c.5148C>T	5201/8578	2	2			c.5148C>T						12	SNP	c.(5146-5148)AAC>AAT	46	46			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	Broad	citron			120142198		0.512	ENSG00000122966	3375	g.chr12:120142198G>A	intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity		p.N1758N(NCIH1793-Tumor)	1263		p.N1758N(NCIH1793-Tumor)	1263	85.437291	KEEP	16	21	-1	30	22	16	21	-1	86.17296	30	22	0.394737	1	0	0	0	0	0	0	1	0	--	--		0	A			CIT_uc001txh.1_Silent_p.N1235N|CIT_uc001txj.1_Silent_p.N1758N	51	GBM-06-0216-TP	p.N1716N	G	TGAGGTTTTCGTTGTAGCGGA	NM_007174	NP_009105	120142198	O14578	CTRO_HUMAN	0		BRCA - Breast invasive adenocarcinoma(302;0.211)	40	5201	-	A	A	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	Silent	1716			CNH.			
CIT	0	broad.mit.edu	GRCh37	12	120138625	120138625	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01	TCGA-14-0789-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261833.7:c.5422G>A	p.Gly1808Arg	p.G1808R	ENST00000261833	NM_007174.2	1808	Gga/Aga	0			1			T	G/R	uc001txi.1	protein_coding		CCDS9192.1			5422/6084									ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	c.(5422-5424)GGA>AGA			PROSITE_profiles:PS50219,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF26,Pfam_domain:PF00780,PIRSF_domain:PIRSF038145,SMART_domains:SM00036	citron				ENSP00000261833		43/47									COSM3398427,COSM3398426,COSM3398425	43/47	.		ENST00000261833	Transcript			intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	ENSG00000122966	g.chr12:120138625C>T	1985			MODERATE		2.525	medium	getma.org/?cm=msa&ty=f&p=CTRO_HUMAN&rb=1597&re=1869&var=G1808R	NA	getma.org/?cm=var&var=hg19,12,120138625,C,T&fts=all	G1808R	--	--	1																																		CIT_uc001txh.1_Missense_Mutation_p.G1327R|CIT_uc001txj.1_Missense_Mutation_p.G1850R	1,1,1			probably_damaging(1)	p.G1808R	NM_007174	NP_009105		deleterious(0)	1,1,1	CTRO_HUMAN	CIT	HGNC	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)			43	5475	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	UPI00001908FD	1808			CNH.		SNV	CIT,missense_variant,p.Gly1850Arg,ENST00000392521,NM_001206999.1;CIT,missense_variant,p.Gly1808Arg,ENST00000261833,NM_007174.2;CIT,missense_variant,p.Gly1421Arg,ENST00000392520,;RP1-127H14.3,3_prime_UTR_variant,,ENST00000535109,;CIT,non_coding_transcript_exon_variant,,ENST00000537607,;CIT,downstream_gene_variant,,ENST00000543324,;CIT,upstream_gene_variant,,ENST00000469414,;CIT,non_coding_transcript_exon_variant,,ENST00000545913,;CIT,downstream_gene_variant,,ENST00000538073,;CIT,upstream_gene_variant,,ENST00000544872,;	uc001txi.1	c.5422G>A	5475/8578	1	1			c.5422G>A						12	SNP	c.(5422-5424)GGA>AGA	12	12			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	Broad	citron			120138625		0.547	ENSG00000122966	3375	g.chr12:120138625C>T	intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			1263			1263	50.433887	KEEP	16	11	-1	35	41	16	11	-1	54.519686	35	41	0.2625	1	0	0	0	0	1	0	0	0	--	--		0	T			CIT_uc001txh.1_Missense_Mutation_p.G1327R|CIT_uc001txj.1_Missense_Mutation_p.G1850R	136	GBM-14-0789-TP	p.G1808R	C	ACGAACACTCCAAATTCTGCA	NM_007174	NP_009105	120138625	O14578	CTRO_HUMAN	0		BRCA - Breast invasive adenocarcinoma(302;0.211)	43	5475	-	T	T	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	Missense_Mutation	1808			CNH.			
CIT	11113		GRCh37	12	120148180	120148180	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000392521.2:c.4947G>A	p.Val1649=	p.V1649=	ENST00000392521	NM_001206999.1	1649	gtG/gtA	0																																																																																																																																																																																																																																												
CITED1	0	broad.mit.edu	GRCh37	X	71522708	71522708	+	synonymous_variant	Silent	SNP	C	C	T	rs146201846	byFrequency	TCGA-26-5133-01	TCGA-26-5133-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000246139.5:c.12G>A	p.Thr4=	p.T4=	ENST00000246139	NM_004143.3	4	acG/acA	0	T:0.0008		1			T	T	uc011mqd.1	protein_coding		CCDS14419.1			12/582										0	c.(10-12)ACG>ACA			hmmpanther:PTHR17045:SF6,hmmpanther:PTHR17045,Pfam_domain:PF04487	melanocyte-specific gene 1 isoform 1			T:0	ENSP00000246139		3-Feb									rs146201846,COSM2156974,COSM3406581	3-Feb	.		ENST00000246139	Transcript			apoptosis|branching involved in ureteric bud morphogenesis|cell proliferation|melanin biosynthetic process|melanocyte differentiation|mesenchymal to epithelial transition|metanephros development|negative regulation of neuron apoptosis|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|nucleocytoplasmic transport|placenta development|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to cAMP|response to estrogen stimulus|response to insulin stimulus|response to interferon-gamma|response to interleukin-1|response to interleukin-11|response to interleukin-2|response to interleukin-4|response to interleukin-6|response to interleukin-9|response to lipopolysaccharide|response to parathyroid hormone stimulus|response to transforming growth factor beta stimulus|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	chromatin binding|co-SMAD binding|LBD domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	ENSG00000125931	g.chrX:71522708C>T	1986			LOW								--	--	1																																		CITED1_uc011mqc.1_Silent_p.T30T|CITED1_uc004eas.2_Silent_p.T4T|CITED1_uc004eat.2_Silent_p.T4T	0,1,1				p.T4T	NM_001144887	NP_001138359			0,1,1	CITE1_HUMAN	CITED1	HGNC	Q99966	CITE1_HUMAN			C9JRD8_HUMAN		2	167	-	Renal(35;0.156)		UPI000013CBD9	4					SNV	CITED1,synonymous_variant,p.=,ENST00000246139,NM_004143.3;CITED1,synonymous_variant,p.=,ENST00000453707,;CITED1,synonymous_variant,p.=,ENST00000431381,NM_001144885.1;CITED1,synonymous_variant,p.=,ENST00000373619,NM_001144886.1;CITED1,synonymous_variant,p.=,ENST00000445983,NM_001144887.1;CITED1,synonymous_variant,p.=,ENST00000454225,;CITED1,synonymous_variant,p.=,ENST00000427412,;CITED1,synonymous_variant,p.=,ENST00000417400,;CITED1,synonymous_variant,p.=,ENST00000450875,;CITED1,synonymous_variant,p.=,ENST00000429794,;PIN4,3_prime_UTR_variant,,ENST00000439980,;	uc011mqd.1	c.12G>A	588/1231	2	2			c.12G>A						23	SNP	c.(10-12)ACG>ACA	36	36				0	Broad	melanocyte-specific gene 1 isoform 1			71522708		0.428	ENSG00000125931	3376	g.chrX:71522708C>T	apoptosis|branching involved in ureteric bud morphogenesis|cell proliferation|melanin biosynthetic process|melanocyte differentiation|mesenchymal to epithelial transition|metanephros development|negative regulation of neuron apoptosis|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|nucleocytoplasmic transport|placenta development|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to cAMP|response to estrogen stimulus|response to insulin stimulus|response to interferon-gamma|response to interleukin-1|response to interleukin-11|response to interleukin-2|response to interleukin-4|response to interleukin-6|response to interleukin-9|response to lipopolysaccharide|response to parathyroid hormone stimulus|response to transforming growth factor beta stimulus|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	chromatin binding|co-SMAD binding|LBD domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding							12.229298	KEEP	6	2	-1	18	12	6	2	-1	15.583158	18	12	0.176471	1	0	0	0	0	0	0	1	0	--	--		0	T			CITED1_uc011mqc.1_Silent_p.T30T|CITED1_uc004eas.2_Silent_p.T4T|CITED1_uc004eat.2_Silent_p.T4T	182	GBM-26-5133-TP	p.T4T	C	CAGGCCTCGACGTTGTTGGCA	NM_001144887	NP_001138359	71522708	Q99966	CITE1_HUMAN	0			2	167	-	T	T	Renal(35;0.156)		Silent	4						
CITED2	10370	broad.mit.edu	GRCh37	6	139694947	139694947	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2567-01	TCGA-06-2567-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367651.2:c.135G>A	p.Gln45=	p.Q45=	ENST00000367651	NM_006079.4	45	caG/caA	0			1			T	Q	uc003qip.1	protein_coding	YES	CCDS5195.1			135/813										0	c.(133-135)CAG>CAA			Pfam_domain:PF04487,hmmpanther:PTHR17045,hmmpanther:PTHR17045:SF7,Low_complexity_(Seg):seg	Cbp/p300-interacting transactivator, with				ENSP00000356623		2-Feb									COSM2153071	2-Feb	.		ENST00000367651	Transcript	1		adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	ENSG00000164442	g.chr6:139694947C>T	1987			LOW								--	--	1																																			1	1			p.Q45Q	NM_006079	NP_006070			1	CITE2_HUMAN	CITED2	HGNC	Q99967	CITE2_HUMAN		GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)	D9ZGF1_HUMAN		2	379	-	Breast(32;0.226)		UPI00000373B9	45			His-rich.		SNV	CITED2,synonymous_variant,p.=,ENST00000367651,NM_006079.4;CITED2,synonymous_variant,p.=,ENST00000536159,NM_001168388.2;CITED2,synonymous_variant,p.=,ENST00000537332,NM_001168389.2;	uc003qip.1	c.135G>A	351/1905	1	1			c.135G>A						6	SNP	c.(133-135)CAG>CAA	9	9				0	Broad	Cbp/p300-interacting transactivator, with			139694947		0.662	ENSG00000164442	3377	g.chr6:139694947C>T	adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	NSCLC(98;1219 1550 33720 43229 49330)			NSCLC(98;1219 1550 33720 43229 49330)			41.924484	KEEP	12	9	-1	25	13	12	9	-1	42.56891	25	13	0.365854	1	0	0	0	0	0	0	1	0	--	--		0	T				89	GBM-06-2567-TP	p.Q45Q	C	TGAAGGCGTGCTGGGGCTGCT	NM_006079	NP_006070	139694947	Q99967	CITE2_HUMAN	0		GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)	2	379	-	T	T	Breast(32;0.226)		Silent	45			His-rich.			
CIZ1	25792		GRCh37	9	130952718	130952718	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000393608.1:c.176T>C	p.Leu59Pro	p.L59P	ENST00000393608	NM_012127.2	59	cTc/cCc	0																																																																																																																																																																																																																																												
CKAP2	0	broad.mit.edu	GRCh37	13	53029668	53029668	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378037.5:c.-24C>T		*8*	ENST00000378037	NM_018204.3			0			1			T		uc001vgv.2	protein_coding	YES	CCDS41893.1			-/2052									ovary(1)|skin(1)	2	c.(-25--21)GACGC>GATGC				cytoskeleton associated protein 2 isoform 2				ENSP00000367276		9-Jan	8.24E-06	0.000104							rs767416626	9-Jan	.		ENST00000378037	Transcript			apoptosis|cell cycle	centrosome|microtubule|spindle pole		ENSG00000136108	g.chr13:53029668C>T	1990			MODIFIER								--	--	1																																		CKAP2_uc001vgt.2_Translation_Start_Site|CKAP2_uc001vgu.2_Translation_Start_Site|CKAP2_uc010tha.1_5'Flank		1				NM_001098525	NP_001091995				CKAP2_HUMAN	CKAP2	HGNC	Q8WWK9	CKAP2_HUMAN		GBM - Glioblastoma multiforme(99;2.6e-08)	C9J7Y4_HUMAN,C9J649_HUMAN		1	174	+		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	UPI000006DA2D						SNV	CKAP2,5_prime_UTR_variant,,ENST00000378037,NM_018204.3,NM_001098525.1;CKAP2,5_prime_UTR_variant,,ENST00000258607,;CKAP2,5_prime_UTR_variant,,ENST00000378034,NM_001286687.1;CKAP2,5_prime_UTR_variant,,ENST00000468284,;VPS36,upstream_gene_variant,,ENST00000378060,NM_016075.2,NM_001282169.1,NM_001282168.1;CKAP2,upstream_gene_variant,,ENST00000490903,NM_001286686.1;CKAP2,upstream_gene_variant,,ENST00000480747,;VPS36,upstream_gene_variant,,ENST00000475375,;	uc001vgv.2	c.-23C>T	67/3629	2	2			c.-23C>T						13	SNP	c.(-25--21)GACGC>GATGC	33	33			ovary(1)|skin(1)	2	Broad	cytoskeleton associated protein 2 isoform 2			53029668		0.662	ENSG00000136108	3379	g.chr13:53029668C>T	apoptosis|cell cycle	centrosome|microtubule|spindle pole								70.334012	KEEP	11	16	-1	3	6	11	16	-1	71.710344	3	6	0.71875	1	0	0	0	0	0	0	0	0	--	--		0	T			CKAP2_uc001vgt.2_Translation_Start_Site|CKAP2_uc001vgu.2_Translation_Start_Site|CKAP2_uc010tha.1_5'Flank	139	GBM-14-0817-TP		C	AAAGCGGAGACGCATCCCCCG	NM_001098525	NP_001091995	53029668	Q8WWK9	CKAP2_HUMAN	0		GBM - Glioblastoma multiforme(99;2.6e-08)	1	174	+	T	T		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	Translation_Start_Site							
CKAP2L	0	broad.mit.edu	GRCh37	2	113514209	113514209	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2494-01	TCGA-32-2494-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302450.6:c.739G>A	p.Gly247Arg	p.G247R	ENST00000302450	NM_152515.3	247	Gga/Aga	0			1			T	G/R	uc002tie.2	protein_coding	YES	CCDS2100.1			739/2238										0	c.(739-741)GGA>AGA			hmmpanther:PTHR16076,hmmpanther:PTHR16076:SF7	cytoskeleton associated protein 2-like				ENSP00000305204		9-Apr									COSM3406793	9-Apr	.		ENST00000302450	Transcript	1			centrosome		ENSG00000169607	g.chr2:113514209C>T	26877			MODERATE		0.205	neutral	getma.org/?cm=msa&ty=f&p=CKP2L_HUMAN&rb=1&re=743&var=G247R	NA	getma.org/?cm=var&var=hg19,2,113514209,C,T&fts=all	G247R	--	--	1																																		CKAP2L_uc002tif.2_Intron|CKAP2L_uc010yxp.1_Missense_Mutation_p.G82R|CKAP2L_uc010yxq.1_Missense_Mutation_p.G82R	1	1		benign(0.008)	p.G247R	NM_152515	NP_689728		tolerated(0.84)	1	CKP2L_HUMAN	CKAP2L	HGNC	Q8IYA6	CKP2L_HUMAN			F5H0M5_HUMAN		4	818	-			UPI0000207D64	247					SNV	CKAP2L,missense_variant,p.Gly82Arg,ENST00000541405,;CKAP2L,missense_variant,p.Gly247Arg,ENST00000302450,NM_152515.3;CKAP2L,downstream_gene_variant,,ENST00000481732,;CKAP2L,downstream_gene_variant,,ENST00000497357,;CKAP2L,downstream_gene_variant,,ENST00000461876,;CKAP2L,intron_variant,,ENST00000435431,;CKAP2L,upstream_gene_variant,,ENST00000474331,;	uc002tie.2	c.739G>A	818/4533	1	1			c.739G>A						2	SNP	c.(739-741)GGA>AGA	4	4				0	Broad	cytoskeleton associated protein 2-like			113514209		0.403	ENSG00000169607	3380	g.chr2:113514209C>T		centrosome								125.919622	KEEP	24	35	-1	83	86	24	35	-1	136.992203	83	86	0.253731	1	0	0	0	0	1	0	0	0	--	--		0	T			CKAP2L_uc002tif.2_Intron|CKAP2L_uc010yxp.1_Missense_Mutation_p.G82R|CKAP2L_uc010yxq.1_Missense_Mutation_p.G82R	236	GBM-32-2494-TP	p.G247R	C	TGTGTTTCTCCAACAAATTGT	NM_152515	NP_689728	113514209	Q8IYA6	CKP2L_HUMAN	0			4	818	-	T	T			Missense_Mutation	247						
CKAP2L	150468		GRCh37	2	113504041	113504041	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000302450.6:c.1714G>T	p.Asp572Tyr	p.D572Y	ENST00000302450	NM_152515.3	572	Gat/Tat	0																																																																																																																																																																																																																																												
CKAP5	0	broad.mit.edu	GRCh37	11	46792527	46792527	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-1034-01	TCGA-14-1034-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000529230.1:c.2997G>A	p.Leu999=	p.L999=	ENST00000529230		999	ctG/ctA	0			1			T	L	uc001ndi.1	protein_coding	YES	CCDS31477.1			2997/6099									ovary(1)|skin(1)	2	c.(2995-2997)CTG>CTA			Gene3D:1.25.10.10,Pfam_domain:PF12348,hmmpanther:PTHR12609,hmmpanther:PTHR12609:SF0,Superfamily_domains:SSF48371	colonic and hepatic tumor over-expressed protein				ENSP00000432768		25/44									COSM927310	25/44	.		ENST00000529230	Transcript			cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding	ENSG00000175216	g.chr11:46792527C>T	28959			LOW								--	--	1																																		CKAP5_uc009ylg.1_Silent_p.L885L|CKAP5_uc001ndj.1_Silent_p.L999L|CKAP5_uc001ndh.1_5'Flank	1	1			p.L999L	NM_001008938	NP_001008938			1	CKAP5_HUMAN	CKAP5	HGNC	Q14008	CKAP5_HUMAN			E9PQH5_HUMAN		25	3107	-			UPI000013F21E	999					SNV	CKAP5,synonymous_variant,p.=,ENST00000529230,;CKAP5,synonymous_variant,p.=,ENST00000415402,NM_001008938.3;CKAP5,synonymous_variant,p.=,ENST00000312055,NM_014756.3;CKAP5,synonymous_variant,p.=,ENST00000354558,;CKAP5,upstream_gene_variant,,ENST00000533413,;CKAP5,upstream_gene_variant,,ENST00000526943,;	uc001ndi.1	c.2997G>A	3044/7121	2	2			c.2997G>A						11	SNP	c.(2995-2997)CTG>CTA	17	17			ovary(1)|skin(1)	2	Broad	colonic and hepatic tumor over-expressed protein			46792527		0.428	ENSG00000175216	3382	g.chr11:46792527C>T	cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding	Ovarian(4;85 273 2202 4844 13323)			Ovarian(4;85 273 2202 4844 13323)			25.816202	KEEP	13	23	-1	35	34	13	23	-1	30.10127	35	34	0.220339	1	0	0	0	0	0	0	1	0	--	--		0	T			CKAP5_uc009ylg.1_Silent_p.L885L|CKAP5_uc001ndj.1_Silent_p.L999L|CKAP5_uc001ndh.1_5'Flank	142	GBM-14-1034-TP	p.L999L	C	CCAGCCAGCCCAGAAGCTGCC	NM_001008938	NP_001008938	46792527	Q14008	CKAP5_HUMAN	0			25	3107	-	T	T			Silent	999						
CKAP5	0	broad.mit.edu	GRCh37	11	46783673	46783673	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-26-6173-01	TCGA-26-6173-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000529230.1:c.4098A>G	p.Lys1366=	p.K1366=	ENST00000529230		1366	aaA/aaG	0			1			C	K	uc001ndi.1	protein_coding	YES	CCDS31477.1			4098/6099									ovary(1)|skin(1)	2	c.(4096-4098)AAA>AAG			Gene3D:1.25.10.10,Pfam_domain:PF12348,hmmpanther:PTHR12609,hmmpanther:PTHR12609:SF0,Superfamily_domains:SSF48371	colonic and hepatic tumor over-expressed protein				ENSP00000432768		32/44									COSM3397708	32/44	.		ENST00000529230	Transcript			cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding	ENSG00000175216	g.chr11:46783673T>C	28959			LOW								--	--	1																																		CKAP5_uc009ylg.1_Silent_p.K1252K|CKAP5_uc001ndj.1_Silent_p.K1366K|CKAP5_uc001ndh.1_Silent_p.K295K	1	1			p.K1366K	NM_001008938	NP_001008938			1	CKAP5_HUMAN	CKAP5	HGNC	Q14008	CKAP5_HUMAN			E9PQH5_HUMAN		32	4208	-			UPI000013F21E	1366			HEAT 10.		SNV	CKAP5,synonymous_variant,p.=,ENST00000529230,;CKAP5,synonymous_variant,p.=,ENST00000415402,NM_001008938.3;CKAP5,synonymous_variant,p.=,ENST00000312055,NM_014756.3;CKAP5,synonymous_variant,p.=,ENST00000354558,;CKAP5,upstream_gene_variant,,ENST00000526876,;CKAP5,upstream_gene_variant,,ENST00000527333,;SNORD67,downstream_gene_variant,,ENST00000390833,NR_003056.1;SNORD67,upstream_gene_variant,,ENST00000516618,;CKAP5,non_coding_transcript_exon_variant,,ENST00000533413,;CKAP5,downstream_gene_variant,,ENST00000526943,;	uc001ndi.1	c.4098A>G	4145/7121	3	3			c.4098A>G						11	SNP	c.(4096-4098)AAA>AAG	64	64			ovary(1)|skin(1)	2	Broad	colonic and hepatic tumor over-expressed protein			46783673		0.478	ENSG00000175216	3382	g.chr11:46783673T>C	cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding	Ovarian(4;85 273 2202 4844 13323)			Ovarian(4;85 273 2202 4844 13323)			-0.410786	KEEP	2	1	-1	23	26	2	1	-1	7.807249	23	26	0.069767	1	0	0	0	0	0	0	1	0	--	--		0	C			CKAP5_uc009ylg.1_Silent_p.K1252K|CKAP5_uc001ndj.1_Silent_p.K1366K|CKAP5_uc001ndh.1_Silent_p.K295K	187	GBM-26-6173-TP	p.K1366K	T	CCTTTAAGGCTTTTCCTGGGG	NM_001008938	NP_001008938	46783673	Q14008	CKAP5_HUMAN	0			32	4208	-	C	C			Silent	1366			HEAT 10.			
CKB	1152	broad.mit.edu	GRCh37	14	103986328	103986328	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-2565-01	TCGA-06-2565-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000348956.2:c.1019A>C	p.Asp340Ala	p.D340A	ENST00000348956	NM_001823.4	340	gAc/gCc	0			1			G	D/A	uc001ynf.1	protein_coding	YES	CCDS9981.1			1019/1146										0	c.(1018-1020)GAC>GCC			Gene3D:3.30.590.10,Pfam_domain:PF00217,PROSITE_profiles:PS51510,hmmpanther:PTHR11547,Superfamily_domains:SSF55931	brain creatine kinase	Creatine(DB00148)			ENSP00000299198		8-Aug									COSM2152988	8-Aug	.		ENST00000348956	Transcript			creatine metabolic process	cytosol	ATP binding|creatine kinase activity	ENSG00000166165	g.chr14:103986328T>G	1991			MODERATE		2.235	medium	getma.org/?cm=msa&ty=f&p=KCRB_HUMAN&rb=120&re=367&var=D340A	getma.org/pdb.php?prot=KCRB_HUMAN&from=120&to=367&var=D340A	getma.org/?cm=var&var=hg19,14,103986328,T,G&fts=all	D340A	--	--	1																																		CKB_uc001yne.1_Missense_Mutation_p.D162A|CKB_uc010awr.1_Missense_Mutation_p.D271A	1	1		probably_damaging(0.944)	p.D340A	NM_001823	NP_001814		tolerated(0.13)	1	KCRB_HUMAN	CKB	HGNC	P12277	KCRB_HUMAN	Epithelial(46;0.14)		G3V4N7_HUMAN,G3V461_HUMAN		8	1099	-		Melanoma(154;0.155)	UPI000012DCBA	340	D->E: No change in activity.		Phosphagen kinase C-terminal.		SNV	CKB,missense_variant,p.Asp340Ala,ENST00000348956,NM_001823.4;CKB,missense_variant,p.Asp138Ala,ENST00000553610,;CKB,downstream_gene_variant,,ENST00000553878,;CKB,downstream_gene_variant,,ENST00000557530,;CKB,downstream_gene_variant,,ENST00000555039,;CKB,3_prime_UTR_variant,,ENST00000553652,;CKB,3_prime_UTR_variant,,ENST00000554989,;CKB,non_coding_transcript_exon_variant,,ENST00000553528,;CKB,non_coding_transcript_exon_variant,,ENST00000554282,;CKB,downstream_gene_variant,,ENST00000555770,;CKB,downstream_gene_variant,,ENST00000554705,;CKB,downstream_gene_variant,,ENST00000554426,;CKB,downstream_gene_variant,,ENST00000555659,;CKB,downstream_gene_variant,,ENST00000553994,;CKB,downstream_gene_variant,,ENST00000557569,;CKB,downstream_gene_variant,,ENST00000557287,;CKB,downstream_gene_variant,,ENST00000555366,;	uc001ynf.1	c.1019A>C	1377/1709	4	4			c.1019A>C						14	SNP	c.(1018-1020)GAC>GCC	24	24				0	Broad	brain creatine kinase		Creatine(DB00148)	103986328		0.662	ENSG00000166165	3383	g.chr14:103986328T>G	creatine metabolic process	cytosol	ATP binding|creatine kinase activity	Esophageal Squamous(186;2492 2823 49929 50127)			Esophageal Squamous(186;2492 2823 49929 50127)			50.090567	KEEP	8	9	-1	15	13	8	9	-1	50.44073	15	13	0.4	1	0	0	0	0	1	0	0	0	--	--		0	G			CKB_uc001yne.1_Missense_Mutation_p.D162A|CKB_uc010awr.1_Missense_Mutation_p.D271A	88	GBM-06-2565-TP	p.D340A	T	GCCCAGGCGGTCAGCGTTGGA	NM_001823	NP_001814	103986328	P12277	KCRB_HUMAN	0	Epithelial(46;0.14)		8	1099	-	G	G		Melanoma(154;0.155)	Missense_Mutation	340	D->E: No change in activity.		Phosphagen kinase C-terminal.			
CKMT1A	548596	broad.mit.edu	GRCh37	15	43991225	43991225	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs148934583		TCGA-06-0154-01	TCGA-06-0154-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000413453.2:c.1192C>T	p.Arg398Trp	p.R398W	ENST00000413453		398	Cgg/Tgg	0	T:0.0002	T:0	1	T:0		T	R/W	uc001zsn.2	protein_coding	YES	CCDS32217.1			1192/1254										0	c.(1192-1194)CGG>TGG			Superfamily_domains:SSF55931,Pfam_domain:PF00217,Gene3D:3.30.590.10,hmmpanther:PTHR11547:SF24,hmmpanther:PTHR11547,PROSITE_profiles:PS51510	creatine kinase, mitochondrial 1A precursor	Creatine(DB00148)	T:0.0238	T:0	ENSP00000406577	T:0	9-Sep	0.00119	0.000385	8.64E-05	0.0144		1.50E-05		0.000788	rs148934583,COSM2149937	9-Sep	common_variant		ENST00000413453	Transcript		T:0.0050	creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity	ENSG00000223572	g.chr15:43991225C>T	31736			MODERATE								--	--	1																																		CKMT1A_uc010uea.1_Missense_Mutation_p.R429W|CKMT1A_uc001zso.3_Missense_Mutation_p.R398W	0,1	1		possibly_damaging(0.898)	p.R398W	NM_001015001	NP_001015001	T:0.001	deleterious(0)	0,1	KCRU_HUMAN	CKMT1A	HGNC	P12532	KCRU_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	C9JSQ1_HUMAN,C9JJX8_HUMAN,C9J995_HUMAN,C9J8F6_HUMAN		10	1584	+		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	UPI000012DCCE	398			Phosphagen kinase C-terminal.		SNV	CKMT1A,missense_variant,p.Arg398Trp,ENST00000413453,;CKMT1A,missense_variant,p.Arg398Trp,ENST00000434505,NM_001015001.1;STRC,intron_variant,,ENST00000541030,;CKMT1A,downstream_gene_variant,,ENST00000415044,;CKMT1A,downstream_gene_variant,,ENST00000411750,;RNU6-353P,upstream_gene_variant,,ENST00000364266,;CKMT1A,downstream_gene_variant,,ENST00000483604,;CKMT1A,downstream_gene_variant,,ENST00000457648,;CKMT1A,downstream_gene_variant,,ENST00000479938,;STRCP1,downstream_gene_variant,,ENST00000509801,;	uc001zsn.2	c.1192C>T	1716/1911	1	1			c.1192C>T						15	SNP	c.(1192-1194)CGG>TGG	16	16				0	Broad	creatine kinase, mitochondrial 1A precursor		Creatine(DB00148)	43991225		0.493	ENSG00000223572	3386	g.chr15:43991225C>T	creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity							170.294719	KEEP	27	50	-1	89	105	27	50	-1	178.25101	89	105	0.293269	1	0	0	0	0	1	0	0	0	--	--		0	T			CKMT1A_uc010uea.1_Missense_Mutation_p.R429W|CKMT1A_uc001zso.3_Missense_Mutation_p.R398W	26	GBM-06-0154-TP	p.R398W	C	TGATTGTGAACGGCGTCTGGA	NM_001015001	NP_001015001	43991225	P12532	KCRU_HUMAN	0		GBM - Glioblastoma multiforme(94;3.56e-07)	10	1584	+	T	T		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	Missense_Mutation	398			Phosphagen kinase C-terminal.			
CKMT1A	548596	broad.mit.edu	GRCh37	15	43991229	43991229	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0211-01	TCGA-06-0211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000413453.2:c.1196G>A	p.Arg399His	p.R399H	ENST00000413453		399	cGt/cAt	0		A:0	1	A:0		A	R/H	uc001zsn.2	protein_coding	YES	CCDS32217.1			1196/1254										0	c.(1195-1197)CGT>CAT			Superfamily_domains:SSF55931,Pfam_domain:PF00217,Gene3D:3.30.590.10,hmmpanther:PTHR11547:SF24,hmmpanther:PTHR11547,PROSITE_profiles:PS51510	creatine kinase, mitochondrial 1A precursor	Creatine(DB00148)	A:0		ENSP00000406577	A:0	9-Sep	0.00014					1.50E-05		0.000969	rs556793318,COSM2150783	9-Sep	common_variant		ENST00000413453	Transcript		A:0.0002	creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity	ENSG00000223572	g.chr15:43991229G>A	31736			MODERATE								--	--	1																																		CKMT1A_uc010uea.1_Missense_Mutation_p.R430H|CKMT1A_uc001zso.3_Missense_Mutation_p.R399H	0,1	1		benign(0.006)	p.R399H	NM_001015001	NP_001015001	A:0.001	tolerated(0.05)	0,1	KCRU_HUMAN	CKMT1A	HGNC	P12532	KCRU_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	C9JSQ1_HUMAN,C9JJX8_HUMAN,C9J995_HUMAN,C9J8F6_HUMAN		10	1588	+		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	UPI000012DCCE	399			Phosphagen kinase C-terminal.		SNV	CKMT1A,missense_variant,p.Arg399His,ENST00000413453,;CKMT1A,missense_variant,p.Arg399His,ENST00000434505,NM_001015001.1;STRC,intron_variant,,ENST00000541030,;CKMT1A,downstream_gene_variant,,ENST00000415044,;CKMT1A,downstream_gene_variant,,ENST00000411750,;RNU6-353P,upstream_gene_variant,,ENST00000364266,;CKMT1A,downstream_gene_variant,,ENST00000483604,;CKMT1A,downstream_gene_variant,,ENST00000457648,;CKMT1A,downstream_gene_variant,,ENST00000479938,;STRCP1,downstream_gene_variant,,ENST00000509801,;	uc001zsn.2	c.1196G>A	1720/1911	1	1			c.1196G>A						15	SNP	c.(1195-1197)CGT>CAT	63	63				0	Broad	creatine kinase, mitochondrial 1A precursor		Creatine(DB00148)	43991229		0.493	ENSG00000223572	3386	g.chr15:43991229G>A	creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity							283.44336	KEEP	51	63	-1	103	62	51	63	-1	283.596433	103	62	0.470874	1	0	0	0	0	1	0	0	0	--	--		0	A			CKMT1A_uc010uea.1_Missense_Mutation_p.R430H|CKMT1A_uc001zso.3_Missense_Mutation_p.R399H	48	GBM-06-0211-TP	p.R399H	G	TGTGAACGGCGTCTGGAGAGA	NM_001015001	NP_001015001	43991229	P12532	KCRU_HUMAN	0		GBM - Glioblastoma multiforme(94;3.56e-07)	10	1588	+	A	A		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	Missense_Mutation	399			Phosphagen kinase C-terminal.			
CKMT1A	0	broad.mit.edu	GRCh37	15	43991225	43991225	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs148934583		TCGA-14-0789-01	TCGA-14-0789-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000413453.2:c.1192C>T	p.Arg398Trp	p.R398W	ENST00000413453		398	Cgg/Tgg	0	T:0.0002	T:0	1	T:0		T	R/W	uc001zsn.2	protein_coding	YES	CCDS32217.1			1192/1254										0	c.(1192-1194)CGG>TGG			Superfamily_domains:SSF55931,Pfam_domain:PF00217,Gene3D:3.30.590.10,hmmpanther:PTHR11547:SF24,hmmpanther:PTHR11547,PROSITE_profiles:PS51510	creatine kinase, mitochondrial 1A precursor	Creatine(DB00148)	T:0.0238	T:0	ENSP00000406577	T:0	9-Sep	0.00119	0.000385	8.64E-05	0.0144		1.50E-05		0.000788	rs148934583,COSM2149937	9-Sep	common_variant		ENST00000413453	Transcript		T:0.0050	creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity	ENSG00000223572	g.chr15:43991225C>T	31736			MODERATE								--	--	1																																		CKMT1A_uc010uea.1_Missense_Mutation_p.R429W|CKMT1A_uc001zso.3_Missense_Mutation_p.R398W	0,1	1		possibly_damaging(0.898)	p.R398W	NM_001015001	NP_001015001	T:0.001	deleterious(0)	0,1	KCRU_HUMAN	CKMT1A	HGNC	P12532	KCRU_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	C9JSQ1_HUMAN,C9JJX8_HUMAN,C9J995_HUMAN,C9J8F6_HUMAN		10	1584	+		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	UPI000012DCCE	398			Phosphagen kinase C-terminal.		SNV	CKMT1A,missense_variant,p.Arg398Trp,ENST00000413453,;CKMT1A,missense_variant,p.Arg398Trp,ENST00000434505,NM_001015001.1;STRC,intron_variant,,ENST00000541030,;CKMT1A,downstream_gene_variant,,ENST00000415044,;CKMT1A,downstream_gene_variant,,ENST00000411750,;RNU6-353P,upstream_gene_variant,,ENST00000364266,;CKMT1A,downstream_gene_variant,,ENST00000483604,;CKMT1A,downstream_gene_variant,,ENST00000457648,;CKMT1A,downstream_gene_variant,,ENST00000479938,;STRCP1,downstream_gene_variant,,ENST00000509801,;	uc001zsn.2	c.1192C>T	1716/1911	1	1			c.1192C>T						15	SNP	c.(1192-1194)CGG>TGG	16	16				0	Broad	creatine kinase, mitochondrial 1A precursor		Creatine(DB00148)	43991225		0.493	ENSG00000223572	3386	g.chr15:43991225C>T	creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity							187.95551	KEEP	43	32	-1	121	104	43	32	-1	198.827546	121	104	0.28	1	0	0	0	0	1	0	0	0	--	--		0	T			CKMT1A_uc010uea.1_Missense_Mutation_p.R429W|CKMT1A_uc001zso.3_Missense_Mutation_p.R398W	136	GBM-14-0789-TP	p.R398W	C	TGATTGTGAACGGCGTCTGGA	NM_001015001	NP_001015001	43991225	P12532	KCRU_HUMAN	0		GBM - Glioblastoma multiforme(94;3.56e-07)	10	1584	+	T	T		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	Missense_Mutation	398			Phosphagen kinase C-terminal.			
CKMT1B	0	broad.mit.edu	GRCh37	15	43890515	43890515	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-14-2554-01	TCGA-14-2554-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300283.6:c.1001T>G	p.Leu334Arg	p.L334R	ENST00000300283	NM_020990.3	334	cTg/cGg	0			1			G	L/R	uc001zsc.2	protein_coding	YES	CCDS10097.1			1001/1254										0	c.(1000-1002)CTG>CGG			PROSITE_profiles:PS51510,hmmpanther:PTHR11547:SF24,hmmpanther:PTHR11547,Gene3D:3.30.590.10,Pfam_domain:PF00217,Superfamily_domains:SSF55931	creatine kinase, mitochondrial 1B precursor	Creatine(DB00148)			ENSP00000300283		10-Aug									COSM3401749	10-Aug	.		ENST00000300283	Transcript			creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity	ENSG00000237289	g.chr15:43890515T>G	1995			MODERATE		1.92	medium	getma.org/?cm=msa&ty=f&p=KCRU_HUMAN&rb=153&re=400&var=L334R	getma.org/pdb.php?prot=KCRU_HUMAN&from=153&to=400&var=L334R	getma.org/?cm=var&var=hg19,15,43890515,T,G&fts=all	L334R	--	--	1																																		CKMT1B_uc010uds.1_Missense_Mutation_p.L365R|CKMT1B_uc010udv.1_3'UTR|CKMT1B_uc001zsd.3_Missense_Mutation_p.L334R|CKMT1B_uc010bdj.2_RNA|CKMT1B_uc010udy.1_RNA	1	1		benign(0.002)	p.L334R	NM_020990	NP_066270		tolerated(0.37)	1	KCRU_HUMAN	CKMT1B	HGNC	P12532	KCRU_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	C9JSQ1_HUMAN,C9JJX8_HUMAN,C9J995_HUMAN,C9J8F6_HUMAN		8	1393	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	UPI000012DCCE	334			Phosphagen kinase C-terminal.		SNV	CKMT1B,missense_variant,p.Leu334Arg,ENST00000300283,NM_020990.3;CKMT1B,missense_variant,p.Leu334Arg,ENST00000441322,;STRC,downstream_gene_variant,,ENST00000450892,NM_153700.2;STRC,downstream_gene_variant,,ENST00000541030,;CKMT1B,downstream_gene_variant,,ENST00000413657,;CKMT1B,downstream_gene_variant,,ENST00000450086,;CKMT1B,downstream_gene_variant,,ENST00000453782,;CKMT1B,downstream_gene_variant,,ENST00000453733,;CKMT1B,downstream_gene_variant,,ENST00000437924,;CKMT1B,downstream_gene_variant,,ENST00000417289,;CKMT1B,downstream_gene_variant,,ENST00000449946,;RNU6-554P,upstream_gene_variant,,ENST00000410466,;CKMT1B,downstream_gene_variant,,ENST00000481666,;CKMT1B,downstream_gene_variant,,ENST00000498538,;CKMT1B,downstream_gene_variant,,ENST00000495545,;CKMT1B,upstream_gene_variant,,ENST00000411560,;CKMT1B,3_prime_UTR_variant,,ENST00000437534,;STRC,downstream_gene_variant,,ENST00000428650,;STRC,downstream_gene_variant,,ENST00000440125,;STRC,downstream_gene_variant,,ENST00000485556,;STRC,downstream_gene_variant,,ENST00000471703,;STRC,downstream_gene_variant,,ENST00000448437,;CKMT1B,downstream_gene_variant,,ENST00000475589,;CKMT1B,downstream_gene_variant,,ENST00000428981,;STRC,downstream_gene_variant,,ENST00000460952,;STRC,downstream_gene_variant,,ENST00000493750,;	uc001zsc.2	c.1001T>G	1393/1779	4	4			c.1001T>G						15	SNP	c.(1000-1002)CTG>CGG	32	32				0	Broad	creatine kinase, mitochondrial 1B precursor		Creatine(DB00148)	43890515		0.537	ENSG00000237289	3387	g.chr15:43890515T>G	creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity							202.918299	KEEP	49	42	-1	94	123	49	42	-1	204.35397	94	123	0.397436	1	0	0	0	0	1	0	0	0	--	--		0	G			CKMT1B_uc010uds.1_Missense_Mutation_p.L365R|CKMT1B_uc010udv.1_3'UTR|CKMT1B_uc001zsd.3_Missense_Mutation_p.L334R|CKMT1B_uc010bdj.2_RNA|CKMT1B_uc010udy.1_RNA	150	GBM-14-2554-TP	p.L334R	T	AAACTGCCCCTGCTAAGCAAA	NM_020990	NP_066270	43890515	P12532	KCRU_HUMAN	0		GBM - Glioblastoma multiforme(94;3.56e-07)	8	1393	+	G	G		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	Missense_Mutation	334			Phosphagen kinase C-terminal.			
CKMT1B	0	broad.mit.edu	GRCh37	15	43891425	43891425	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01	TCGA-27-2526-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300283.6:c.1208G>A	p.Gly403Asp	p.G403D	ENST00000300283	NM_020990.3	403	gGc/gAc	0			1			A	G/D	uc001zsc.2	protein_coding	YES	CCDS10097.1			1208/1254										0	c.(1207-1209)GGC>GAC			hmmpanther:PTHR11547:SF24,hmmpanther:PTHR11547,Superfamily_domains:SSF55931	creatine kinase, mitochondrial 1B precursor	Creatine(DB00148)			ENSP00000300283		10-Oct									COSM3401750	10-Oct	.		ENST00000300283	Transcript			creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity	ENSG00000237289	g.chr15:43891425G>A	1995			MODERATE		2.615	medium	getma.org/?cm=msa&ty=f&p=KCRU_HUMAN&rb=371&re=417&var=G403D	getma.org/pdb.php?prot=KCRU_HUMAN&from=401&to=417&var=G403D	getma.org/?cm=var&var=hg19,15,43891425,G,A&fts=all	G403D	--	--	1																																		CKMT1B_uc010uds.1_Missense_Mutation_p.G434D|CKMT1B_uc001zsd.3_Missense_Mutation_p.G403D|CKMT1B_uc010bdj.2_RNA	1	1		benign(0.262)	p.G403D	NM_020990	NP_066270		deleterious(0.01)	1	KCRU_HUMAN	CKMT1B	HGNC	P12532	KCRU_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	C9JSQ1_HUMAN,C9JJX8_HUMAN,C9J995_HUMAN,C9J8F6_HUMAN		10	1600	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	UPI000012DCCE	403					SNV	CKMT1B,missense_variant,p.Gly403Asp,ENST00000300283,NM_020990.3;CKMT1B,missense_variant,p.Gly403Asp,ENST00000441322,;STRC,downstream_gene_variant,,ENST00000450892,NM_153700.2;STRC,downstream_gene_variant,,ENST00000541030,;CKMT1B,downstream_gene_variant,,ENST00000413657,;CKMT1B,downstream_gene_variant,,ENST00000450086,;CKMT1B,downstream_gene_variant,,ENST00000453782,;CKMT1B,downstream_gene_variant,,ENST00000453733,;CKMT1B,downstream_gene_variant,,ENST00000437924,;CKMT1B,downstream_gene_variant,,ENST00000417289,;CKMT1B,downstream_gene_variant,,ENST00000449946,;RNU6-554P,upstream_gene_variant,,ENST00000410466,;CKMT1B,downstream_gene_variant,,ENST00000481666,;CKMT1B,downstream_gene_variant,,ENST00000498538,;CKMT1B,downstream_gene_variant,,ENST00000495545,;CKMT1B,upstream_gene_variant,,ENST00000411560,;CKMT1B,3_prime_UTR_variant,,ENST00000437534,;STRC,downstream_gene_variant,,ENST00000428650,;STRC,downstream_gene_variant,,ENST00000440125,;STRC,downstream_gene_variant,,ENST00000485556,;STRC,downstream_gene_variant,,ENST00000471703,;STRC,downstream_gene_variant,,ENST00000448437,;CKMT1B,downstream_gene_variant,,ENST00000475589,;CKMT1B,downstream_gene_variant,,ENST00000428981,;STRC,downstream_gene_variant,,ENST00000460952,;STRC,downstream_gene_variant,,ENST00000493750,;	uc001zsc.2	c.1208G>A	1600/1779	2	2			c.1208G>A						15	SNP	c.(1207-1209)GGC>GAC	33	33				0	Broad	creatine kinase, mitochondrial 1B precursor		Creatine(DB00148)	43891425		0.493	ENSG00000237289	3387	g.chr15:43891425G>A	creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity							206.469858	KEEP	33	46	-1	80	82	33	46	-1	208.316539	80	82	0.394737	1	0	0	0	0	1	0	0	0	--	--		0	A			CKMT1B_uc010uds.1_Missense_Mutation_p.G434D|CKMT1B_uc001zsd.3_Missense_Mutation_p.G403D|CKMT1B_uc010bdj.2_RNA	203	GBM-27-2526-TP	p.G403D	G	CTGGAGAGAGGCCAGGATATC	NM_020990	NP_066270	43891425	P12532	KCRU_HUMAN	0		GBM - Glioblastoma multiforme(94;3.56e-07)	10	1600	+	A	A		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	Missense_Mutation	403						
CLASP1	0	broad.mit.edu	GRCh37	2	122216417	122216417	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01	TCGA-27-2524-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263710.4:c.1313G>A	p.Arg438Gln	p.R438Q	ENST00000263710	NM_015282.2	438	cGg/cAg	0			1			T	R/Q	uc002tnc.2	protein_coding	YES				1313/4617									ovary(1)|central_nervous_system(1)	2	c.(1312-1314)CGG>CAG			hmmpanther:PTHR21567:SF28,hmmpanther:PTHR21567,Pfam_domain:PF12348,Gene3D:1.25.10.10,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371	CLIP-associating protein 1 isoform 1				ENSP00000263710		13/40	1.66E-05			0.000117				6.76E-05	COSM3406827,COSM3406829,COSM3406828,COSM3406830,COSM3406831	13/40	.		ENST00000263710	Transcript			axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	ENSG00000074054	g.chr2:122216417C>T	17088			MODERATE		1.32	low	getma.org/?cm=msa&ty=f&p=CLAP1_HUMAN&rb=320&re=537&var=R438Q	NA	getma.org/?cm=var&var=hg19,2,122216417,C,T&fts=all	R438Q	--	--	1																																		CLASP1_uc002tna.2_5'Flank|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.R438Q|CLASP1_uc010yza.1_Missense_Mutation_p.R438Q|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tng.1_Missense_Mutation_p.R438Q	1,1,1,1,1	1		benign(0.133)	p.R438Q	NM_015282	NP_056097		tolerated(0.17)	1,1,1,1,1	CLAP1_HUMAN	CLASP1	HGNC	Q7Z460	CLAP1_HUMAN			C9JP76_HUMAN,C9J151_HUMAN		13	1703	-	Renal(3;0.0496)		UPI00001A8BFF	438			HEAT 3.		SNV	CLASP1,missense_variant,p.Arg438Gln,ENST00000263710,NM_015282.2;CLASP1,missense_variant,p.Arg438Gln,ENST00000409078,;CLASP1,missense_variant,p.Arg438Gln,ENST00000455322,;CLASP1,missense_variant,p.Arg438Gln,ENST00000397587,NM_001142274.1,NM_001142273.1;CLASP1,missense_variant,p.Arg438Gln,ENST00000541377,NM_001207051.1;CLASP1,missense_variant,p.Arg207Gln,ENST00000541859,;CLASP1,missense_variant,p.Arg206Gln,ENST00000545861,;CLASP1,downstream_gene_variant,,ENST00000418989,;CLASP1,downstream_gene_variant,,ENST00000449975,;CLASP1,downstream_gene_variant,,ENST00000430234,;CLASP1,downstream_gene_variant,,ENST00000480007,;CLASP1,missense_variant,p.Arg219Gln,ENST00000452274,;CLASP1,downstream_gene_variant,,ENST00000491646,;CLASP1,downstream_gene_variant,,ENST00000474065,;	uc002tnc.2	c.1313G>A	1703/8090	2	2			c.1313G>A						2	SNP	c.(1312-1314)CGG>CAG	29	29			ovary(1)|central_nervous_system(1)	2	Broad	CLIP-associating protein 1 isoform 1			122216417		0.338	ENSG00000074054	3391	g.chr2:122216417C>T	axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding							156.522711	KEEP	21	28	-1	39	38	21	28	-1	157.833601	39	38	0.38843	1	0	0	0	0	1	0	0	0	--	--		0	T			CLASP1_uc002tna.2_5'Flank|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.R438Q|CLASP1_uc010yza.1_Missense_Mutation_p.R438Q|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tng.1_Missense_Mutation_p.R438Q	202	GBM-27-2524-TP	p.R438Q	C	CATACTTACCCGAATAATTAA	NM_015282	NP_056097	122216417	Q7Z460	CLAP1_HUMAN	0			13	1703	-	T	T	Renal(3;0.0496)		Missense_Mutation	438			HEAT 3.			
CLASRP	0	broad.mit.edu	GRCh37	19	45561033	45561033	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01	TCGA-26-6174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221455.3:c.490G>A	p.Gly164Ser	p.G164S	ENST00000221455	NM_007056.2	164	Ggt/Agt	0			1			A	G/S	uc002pak.2	protein_coding	YES	CCDS12652.2			490/2025										0	c.(490-492)GGT>AGT			Pfam_domain:PF09750,hmmpanther:PTHR13161,hmmpanther:PTHR13161:SF4	splicing factor, arginine/serine-rich 16				ENSP00000221455		21-Jul									COSM1612403	21-Jul	.		ENST00000221455	Transcript			mRNA processing|RNA splicing	nucleus		ENSG00000104859	g.chr19:45561033G>A	17731			MODERATE		2.44	medium	getma.org/?cm=msa&ty=f&p=CLASR_HUMAN&rb=39&re=171&var=G164S	NA	getma.org/?cm=var&var=hg19,19,45561033,G,A&fts=all	G164S	--	--	1																																		SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_Missense_Mutation_p.G102S|SFRS16_uc002pam.2_Missense_Mutation_p.G164S|SFRS16_uc002pan.1_RNA	1	1		probably_damaging(0.99)	p.G164S	NM_007056	NP_008987		deleterious(0.03)	1	CLASR_HUMAN	CLASRP	HGNC	Q8N2M8	CLASR_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	K7EKC9_HUMAN		7	588	+		Ovarian(192;0.0728)|all_neural(266;0.112)	UPI000020262D	164					SNV	CLASRP,missense_variant,p.Gly164Ser,ENST00000544944,;CLASRP,missense_variant,p.Gly164Ser,ENST00000221455,NM_007056.2;CLASRP,missense_variant,p.Gly102Ser,ENST00000391953,NM_001278439.1;CLASRP,downstream_gene_variant,,ENST00000588936,;CLASRP,missense_variant,p.Gly164Ser,ENST00000391952,;CLASRP,missense_variant,p.Gly145Ser,ENST00000587112,;CLASRP,synonymous_variant,p.=,ENST00000591410,;CLASRP,non_coding_transcript_exon_variant,,ENST00000588016,;CLASRP,downstream_gene_variant,,ENST00000592056,;	uc002pak.2	c.490G>A	588/2234	2	2			c.490G>A						19	SNP	c.(490-492)GGT>AGT	46	46				0	Broad	splicing factor, arginine/serine-rich 16			45561033		0.592	ENSG00000104859	13952	g.chr19:45561033G>A	mRNA processing|RNA splicing	nucleus								43.316458	KEEP	9	14	-1	49	39	9	14	-1	51.728464	49	39	0.2	1	0	0	0	0	1	0	0	0	--	--		0	A			SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_Missense_Mutation_p.G102S|SFRS16_uc002pam.2_Missense_Mutation_p.G164S|SFRS16_uc002pan.1_RNA	188	GBM-26-6174-TP	p.G164S	G	GGCTTCCATCGGTTATACCTA	NM_007056	NP_008987	45561033	Q8N2M8	CLASR_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	7	588	+	A	A		Ovarian(192;0.0728)|all_neural(266;0.112)	Missense_Mutation	164						
CLCA1	0	broad.mit.edu	GRCh37	1	86951220	86951220	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-19-2625-01	TCGA-19-2625-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000234701.3:c.931delC	p.Asp312ThrfsTer15	p.D312Tfs*15	ENST00000234701		310	gtC/gt	0			1			-	V/X	uc001dlt.2	protein_coding	YES	CCDS709.1			930/2745									ovary(1)	1	c.(928-930)GTCfs			PROSITE_profiles:PS50234,hmmpanther:PTHR10579:SF44,hmmpanther:PTHR10579,Gene3D:3.40.50.410,Pfam_domain:PF13519,TIGRFAM_domain:TIGR00868,SMART_domains:SM00327,Superfamily_domains:SSF53300	chloride channel accessory 1 precursor				ENSP00000234701		15-Jul										15-Jul	.		ENST00000234701	Transcript			calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	ENSG00000016490	g.chr1:86951220delC	2015	1		HIGH								--	--	1																																		CLCA1_uc001dls.1_Frame_Shift_Del_p.V249fs		1			p.V310fs	NM_001285	NP_001276				CLCA1_HUMAN	CLCA1	HGNC	A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)			6	1059	+		Lung NSC(277;0.239)	UPI00001AE689	310			VWFA.		deletion	CLCA1,frameshift_variant,p.Asp312ThrfsTer15,ENST00000234701,;CLCA1,frameshift_variant,p.Asp312ThrfsTer15,ENST00000394711,NM_001285.3;	uc001dlt.2	c.930delC	1281/3310	5	5			c.930delC						1	DEL	c.(928-930)GTCfs	45	45			ovary(1)	1	Broad	chloride channel accessory 1 precursor			86951220		0.448	ENSG00000016490	3394	g.chr1:86951220delC	calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity																				0.19	1	1	0	1	0	0	0	0	0	--	--		0	-			CLCA1_uc001dls.1_Frame_Shift_Del_p.V249fs	165	GBM-19-2625-TP	p.V310fs	C	TGTGTTTAGTCCTTGACAAAT	NM_001285	NP_001276	86951220	A8K7I4	CLCA1_HUMAN	0		all cancers(265;0.0249)|Epithelial(280;0.0476)	6	1059	+	-	-		Lung NSC(277;0.239)	Frame_Shift_Del	310			VWFA.			
CLCA1	0	broad.mit.edu	GRCh37	1	86954794	86954794	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-1747-01	TCGA-28-1747-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000234701.3:c.1298A>G	p.His433Arg	p.H433R	ENST00000234701		433	cAc/cGc	0			1			G	H/R	uc001dlt.2	protein_coding	YES	CCDS709.1			1298/2745									ovary(1)	1	c.(1297-1299)CAC>CGC			PROSITE_profiles:PS50234,hmmpanther:PTHR10579:SF44,hmmpanther:PTHR10579,Gene3D:3.40.50.410,Pfam_domain:PF13519,TIGRFAM_domain:TIGR00868,SMART_domains:SM00327,Superfamily_domains:SSF53300	chloride channel accessory 1 precursor				ENSP00000234701		15-Sep									COSM3401065	15-Sep	.		ENST00000234701	Transcript			calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	ENSG00000016490	g.chr1:86954794A>G	2015			MODERATE		3.285	medium	getma.org/?cm=msa&ty=f&p=CLCA1_HUMAN&rb=307&re=472&var=H433R	NA	getma.org/?cm=var&var=hg19,1,86954794,A,G&fts=all	H433R	--	--	1																																		CLCA1_uc001dls.1_Missense_Mutation_p.H372R	1	1		probably_damaging(1)	p.H433R	NM_001285	NP_001276		deleterious(0)	1	CLCA1_HUMAN	CLCA1	HGNC	A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)			8	1427	+		Lung NSC(277;0.239)	UPI00001AE689	433			VWFA.		SNV	CLCA1,missense_variant,p.His433Arg,ENST00000234701,;CLCA1,missense_variant,p.His433Arg,ENST00000394711,NM_001285.3;	uc001dlt.2	c.1298A>G	1649/3310	3	3			c.1298A>G						1	SNP	c.(1297-1299)CAC>CGC	50	50			ovary(1)	1	Broad	chloride channel accessory 1 precursor			86954794		0.473	ENSG00000016490	3394	g.chr1:86954794A>G	calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity							94.35055	KEEP	15	16	-1	31	32	15	16	-1	96.488529	31	32	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	G			CLCA1_uc001dls.1_Missense_Mutation_p.H372R	206	GBM-28-1747-TP	p.H433R	A	GCCATCATCCACACAGTCGCT	NM_001285	NP_001276	86954794	A8K7I4	CLCA1_HUMAN	0		all cancers(265;0.0249)|Epithelial(280;0.0476)	8	1427	+	G	G		Lung NSC(277;0.239)	Missense_Mutation	433			VWFA.			
CLCA1	1179		GRCh37	1	86952277	86952277	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000234701.3:c.1023G>A	p.Gly341=	p.G341=	ENST00000234701		341	ggG/ggA	0																																																																																																																																																																																																																																												
CLCA4	22802		GRCh37	1	87045055	87045055	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000370563.3:c.2141C>T	p.Pro714Leu	p.P714L	ENST00000370563	NM_012128.3	714	cCg/cTg	0																																																																																																																																																																																																																																												
CLCN1	1180	broad.mit.edu	GRCh37	7	143036401	143036401	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0152-01	TCGA-06-0152-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343257.2:c.1457C>G	p.Pro486Arg	p.P486R	ENST00000343257	NM_000083.2	486	cCt/cGt	0			1			G	P/R	uc003wcr.1	protein_coding	YES	CCDS5881.1			1457/2967									ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	c.(1456-1458)CCT>CGT			Gene3D:1otsB00,Pfam_domain:PF00654,Prints_domain:PR00762,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF29,Superfamily_domains:SSF81340,Transmembrane_helices:TMhelix	chloride channel 1, skeletal muscle				ENSP00000339867		13/23									COSM3411721	13/23	.		ENST00000343257	Transcript	1		muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	ENSG00000188037	g.chr7:143036401C>G	2019			MODERATE		4.03	high	getma.org/?cm=msa&ty=f&p=CLCN1_HUMAN&rb=170&re=572&var=P486R	getma.org/pdb.php?prot=CLCN1_HUMAN&from=170&to=572&var=P486R	getma.org/?cm=var&var=hg19,7,143036401,C,G&fts=all	P486R	--	--	1																																		CLCN1_uc011ktc.1_Missense_Mutation_p.P98R	1	1		probably_damaging(1)	p.P486R	NM_000083	NP_000074		deleterious(0)	1	CLCN1_HUMAN	CLCN1	HGNC	P35523	CLCN1_HUMAN			Q75L28_HUMAN		13	1544	+	Melanoma(164;0.205)		UPI000020F1EC	486			Helical; (By similarity).|Selectivity filter part_3 (By similarity).		SNV	CLCN1,missense_variant,p.Pro486Arg,ENST00000343257,NM_000083.2;	uc003wcr.1	c.1457C>G	1544/3172	3	3			c.1457C>G						7	SNP	c.(1456-1458)CCT>CGT	13	13			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Broad	chloride channel 1, skeletal muscle			143036401		0.517	ENSG00000188037	3399	g.chr7:143036401C>G	muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity							103.791862	KEEP	29	37	-1	170	234	29	37	-1	153.44151	170	234	0.140704	1	0	0	0	0	1	0	0	0	--	--		0	G			CLCN1_uc011ktc.1_Missense_Mutation_p.P98R	25	GBM-06-0152-TP	p.P486R	C	GGCTTCATGCCTGTGTTTGTG	NM_000083	NP_000074	143036401	P35523	CLCN1_HUMAN	0			13	1544	+	G	G	Melanoma(164;0.205)		Missense_Mutation	486			Helical; (By similarity).|Selectivity filter part_3 (By similarity).			
CLCN1	0	broad.mit.edu	GRCh37	7	143043325	143043325	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-1834-01	TCGA-27-1834-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343257.2:c.2265G>A	p.Pro755=	p.P755=	ENST00000343257	NM_000083.2	755	ccG/ccA	0			1			A	P	uc003wcr.1	protein_coding	YES	CCDS5881.1			2265/2967									ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	c.(2263-2265)CCG>CCA			hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF29	chloride channel 1, skeletal muscle				ENSP00000339867		18/23	2.47E-05					4.50E-05			rs761474906,COSM3411722	18/23	.		ENST00000343257	Transcript	1		muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	ENSG00000188037	g.chr7:143043325G>A	2019			LOW								--	--	1																																		CLCN1_uc011ktc.1_Silent_p.P367P	0,1	1			p.P755P	NM_000083	NP_000074			0,1	CLCN1_HUMAN	CLCN1	HGNC	P35523	CLCN1_HUMAN			Q75L28_HUMAN		18	2352	+	Melanoma(164;0.205)		UPI000020F1EC	755			Cytoplasmic (By similarity).		SNV	CLCN1,synonymous_variant,p.=,ENST00000343257,NM_000083.2;	uc003wcr.1	c.2265G>A	2352/3172	1	1			c.2265G>A						7	SNP	c.(2263-2265)CCG>CCA	64	64			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Broad	chloride channel 1, skeletal muscle			143043325		0.602	ENSG00000188037	3399	g.chr7:143043325G>A	muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity							9.779713	KEEP	10	8	-1	48	74	10	8	-1	18.701546	48	74	0.114754	1	0	0	0	0	0	0	1	0	--	--		0	A			CLCN1_uc011ktc.1_Silent_p.P367P	193	GBM-27-1834-TP	p.P755P	G	AACAGCAGCCGGAAGCACCAG	NM_000083	NP_000074	143043325	P35523	CLCN1_HUMAN	0			18	2352	+	A	A	Melanoma(164;0.205)		Silent	755			Cytoplasmic (By similarity).			
CLCN1	0	broad.mit.edu	GRCh37	7	143047569	143047569	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C			TCGA-27-2518-01	TCGA-27-2518-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343257.2:c.2508G>C	p.Lys836Asn	p.K836N	ENST00000343257	NM_000083.2	836	aaG/aaC	0			1			C	K/N	uc003wcr.1	protein_coding	YES	CCDS5881.1			2508/2967									ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	c.(2506-2508)AAG>AAC			Gene3D:3.10.580.10,PROSITE_profiles:PS51371,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF29,Superfamily_domains:SSF54631	chloride channel 1, skeletal muscle				ENSP00000339867		21/23									COSM3411723	21/23	.		ENST00000343257	Transcript	1		muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	ENSG00000188037	g.chr7:143047569G>C	2019			MODERATE		3.365	medium	getma.org/?cm=msa&ty=f&p=CLCN1_HUMAN&rb=821&re=876&var=K836N	getma.org/pdb.php?prot=CLCN1_HUMAN&from=821&to=876&var=K836N	getma.org/?cm=var&var=hg19,7,143047569,G,C&fts=all	K836N	--	--	1																																		CLCN1_uc011ktc.1_Missense_Mutation_p.K448N	1	1		possibly_damaging(0.764)	p.K836N	NM_000083	NP_000074		deleterious(0)	1	CLCN1_HUMAN	CLCN1	HGNC	P35523	CLCN1_HUMAN			Q75L28_HUMAN		21	2595	+	Melanoma(164;0.205)		UPI000020F1EC	836			CBS 2.|Cytoplasmic (By similarity).		SNV	CLCN1,missense_variant,p.Lys836Asn,ENST00000343257,NM_000083.2;FAM131B,downstream_gene_variant,,ENST00000409408,;FAM131B,downstream_gene_variant,,ENST00000443739,NM_001031690.2,NM_001278297.1;FAM131B,downstream_gene_variant,,ENST00000409346,;FAM131B,downstream_gene_variant,,ENST00000409578,;FAM131B,downstream_gene_variant,,ENST00000409222,NM_014690.4;FAM131B,downstream_gene_variant,,ENST00000410085,;	uc003wcr.1	c.2508G>C	2595/3172	3	3			c.2508G>C						7	SNP	c.(2506-2508)AAG>AAC	4	4			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Broad	chloride channel 1, skeletal muscle			143047569		0.567	ENSG00000188037	3399	g.chr7:143047569G>C	muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity							33.053184	KEEP	14	4	-1	58	63	14	4	-1	50.194464	58	63	0.135338	1	0	0	0	0	1	0	0	0	--	--		0	C			CLCN1_uc011ktc.1_Missense_Mutation_p.K448N	198	GBM-27-2518-TP	p.K836N	G	CCCTGCACAAGGTGAGTCTTT	NM_000083	NP_000074	143047569	P35523	CLCN1_HUMAN	0			21	2595	+	C	C	Melanoma(164;0.205)		Missense_Mutation	836			CBS 2.|Cytoplasmic (By similarity).			
CLCN2	1181	broad.mit.edu	GRCh37	3	184071135	184071135	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01	TCGA-06-0219-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265593.4:c.1931G>A	p.Arg644His	p.R644H	ENST00000265593	NM_004366.5	644	cGc/cAc	0			1			T	R/H	uc003foi.2	protein_coding	YES	CCDS3263.1			1931/2697										0	c.(1930-1932)CGC>CAC			hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF64,Superfamily_domains:SSF54631	chloride channel 2	Lubiprostone(DB01046)			ENSP00000265593		17/24									COSM1042047	17/24	.		ENST00000265593	Transcript	1			chloride channel complex	voltage-gated chloride channel activity	ENSG00000114859	g.chr3:184071135C>T	2020			MODERATE		2.61	medium	getma.org/?cm=msa&ty=f&p=CLCN2_HUMAN&rb=548&re=747&var=R644H	getma.org/pdb.php?prot=CLCN2_HUMAN&from=548&to=747&var=R644H	getma.org/?cm=var&var=hg19,3,184071135,C,T&fts=all	R644H	--	--	1																																		CLCN2_uc003foh.2_Missense_Mutation_p.R168H|CLCN2_uc010hya.1_Missense_Mutation_p.R627H|CLCN2_uc011brl.1_Missense_Mutation_p.R644H|CLCN2_uc011brm.1_Missense_Mutation_p.R600H	1	1		probably_damaging(0.932)	p.R644H	NM_004366	NP_004357		deleterious(0)	1	CLCN2_HUMAN	CLCN2	HGNC	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)				17	2055	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		UPI000013D645	644		R -> C (no effect).	Cytoplasmic (By similarity).		SNV	CLCN2,missense_variant,p.Arg644His,ENST00000265593,NM_004366.5;CLCN2,missense_variant,p.Arg627His,ENST00000344937,NM_001171087.2;CLCN2,missense_variant,p.Arg600His,ENST00000434054,NM_001171088.2;CLCN2,missense_variant,p.Arg644His,ENST00000457512,NM_001171089.2;CLCN2,3_prime_UTR_variant,,ENST00000423355,;EIF2B5,intron_variant,,ENST00000444495,;CLCN2,downstream_gene_variant,,ENST00000475279,;CLCN2,3_prime_UTR_variant,,ENST00000430397,;CLCN2,downstream_gene_variant,,ENST00000485667,;CLCN2,downstream_gene_variant,,ENST00000465231,;CLCN2,upstream_gene_variant,,ENST00000491162,;	uc003foi.2	c.1931G>A	2103/3290	1	1			c.1931G>A						3	SNP	c.(1930-1932)CGC>CAC	13	13				0	Broad	chloride channel 2		Lubiprostone(DB01046)	184071135		0.627	ENSG00000114859	3400	g.chr3:184071135C>T		chloride channel complex	voltage-gated chloride channel activity							64.524536	KEEP	14	17	-1	19	31	14	17	-1	66.465415	19	31	0.323944	1	0	0	0	0	1	0	0	0	--	--		0	T			CLCN2_uc003foh.2_Missense_Mutation_p.R168H|CLCN2_uc010hya.1_Missense_Mutation_p.R627H|CLCN2_uc011brl.1_Missense_Mutation_p.R644H|CLCN2_uc011brm.1_Missense_Mutation_p.R600H	52	GBM-06-0219-TP	p.R644H	C	CTGCCGCCGGCGGGCTGGGCT	NM_004366	NP_004357	184071135	P51788	CLCN2_HUMAN	0	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		17	2055	-	T	T	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Missense_Mutation	644		R -> C (no effect).	Cytoplasmic (By similarity).			
CLCN3	1182		GRCh37	4	170610366	170610366	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-28-2510-01	TCGA-28-2510-01																				ENST00000347613.4:c.591C>G	p.Ile197Met	p.I197M	ENST00000347613	NM_173872.3	197	atC/atG	0																																																																																																																																																																																																																																												
CLCN4	0	broad.mit.edu	GRCh37	X	10181901	10181901	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-4208-01	TCGA-32-4208-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380833.4:c.1757T>C	p.Val586Ala	p.V586A	ENST00000380833	NM_001830.3	586	gTg/gCg	0			1			C	V/A	uc004csy.3	protein_coding	YES	CCDS14137.1			1757/2283									ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5	c.(1756-1758)GTG>GCG			hmmpanther:PTHR11689:SF18,hmmpanther:PTHR11689,Gene3D:1otsB00,Superfamily_domains:SSF54631,Superfamily_domains:SSF81340	chloride channel 4				ENSP00000370213		13-Nov									COSM3405783	13-Nov	.		ENST00000380833	Transcript				early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	ENSG00000073464	g.chrX:10181901T>C	2022			MODERATE		-0.08	neutral	getma.org/?cm=msa&ty=f&p=CLCN4_HUMAN&rb=566&re=595&var=V586A	NA	getma.org/?cm=var&var=hg19,X,10181901,T,C&fts=all	V586A	--	--	1																																		CLCN4_uc011mid.1_Missense_Mutation_p.V492A	1	1		benign(0.001)	p.V586A	NM_001830	NP_001821		tolerated(1)	1	CLCN4_HUMAN	CLCN4	HGNC	P51793	CLCN4_HUMAN			Q75N13_HUMAN,B7Z5Z4_HUMAN		11	2187	+			UPI0000127A99	586			Cytoplasmic (By similarity).		SNV	CLCN4,missense_variant,p.Val586Ala,ENST00000380833,NM_001830.3,NM_001256944.1;CLCN4,missense_variant,p.Val555Ala,ENST00000380829,;CLCN4,missense_variant,p.Val492Ala,ENST00000421085,;AC003666.1,downstream_gene_variant,,ENST00000410201,;	uc004csy.3	c.1757T>C	2148/6750	3	3			c.1757T>C						23	SNP	c.(1756-1758)GTG>GCG	11	11			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5	Broad	chloride channel 4			10181901		0.597	ENSG00000073464	3402	g.chrX:10181901T>C		early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	Melanoma(74;1050 1296 1576 30544 38374)			Melanoma(74;1050 1296 1576 30544 38374)			24.589174	KEEP	4	9	-1	32	25	4	9	-1	30.450519	32	25	0.180328	1	0	0	0	0	1	0	0	0	--	--		0	C			CLCN4_uc011mid.1_Missense_Mutation_p.V492A	243	GBM-32-4208-TP	p.V586A	T	TTCCTTGACGTGAAGGACGAG	NM_001830	NP_001821	10181901	P51793	CLCN4_HUMAN	0			11	2187	+	C	C			Missense_Mutation	586			Cytoplasmic (By similarity).			
CLCN5	0	broad.mit.edu	GRCh37	X	49851112	49851112	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-19-2631-01	TCGA-19-2631-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307367.2:c.932delA	p.His311ProfsTer48	p.H311Pfs*48	ENST00000307367		311	cAc/cc	0			1			-	H/X	uc004dos.1	protein_coding		CCDS14328.1			932/2241									ovary(2)|lung(1)|central_nervous_system(1)	4	c.(931-933)CACfs			Gene3D:1otsB00,Pfam_domain:PF00654,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF63,Superfamily_domains:SSF81340	chloride channel 5 isoform b				ENSP00000304257		12-Aug									COSM2156400,COSM2156399	12-Aug	.		ENST00000307367	Transcript	1		excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding	ENSG00000171365	g.chrX:49851112delA	2023			HIGH								--	--	1																																		CLCN5_uc004dor.1_Frame_Shift_Del_p.H381fs|CLCN5_uc004doq.1_Frame_Shift_Del_p.H381fs|CLCN5_uc004dot.1_Frame_Shift_Del_p.H311fs	1,1				p.H311fs	NM_000084	NP_000075			1,1	CLCN5_HUMAN	CLCN5	HGNC	P51795	CLCN5_HUMAN					8	1180	+	Ovarian(276;0.236)		UPI0000127A9B	311					deletion	CLCN5,frameshift_variant,p.His381ProfsTer48,ENST00000376088,NM_001127899.2,NM_001127898.2;CLCN5,frameshift_variant,p.His311ProfsTer48,ENST00000307367,;CLCN5,frameshift_variant,p.His381ProfsTer48,ENST00000376091,;CLCN5,frameshift_variant,p.His311ProfsTer48,ENST00000376108,NM_000084.3;	uc004dos.1	c.932delA	1223/3177	5	5			c.932delA						23	DEL	c.(931-933)CACfs	52	52			ovary(2)|lung(1)|central_nervous_system(1)	4	Broad	chloride channel 5 isoform b			49851112		0.498	ENSG00000171365	3403	g.chrX:49851112delA	excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding																				0.29	1	1	0	1	0	0	0	0	0	--	--		0	-			CLCN5_uc004dor.1_Frame_Shift_Del_p.H381fs|CLCN5_uc004doq.1_Frame_Shift_Del_p.H381fs|CLCN5_uc004dot.1_Frame_Shift_Del_p.H311fs	167	GBM-19-2631-TP	p.H311fs	A	GTGGAGTTTCACACCCCATGG	NM_000084	NP_000075	49851112	P51795	CLCN5_HUMAN	0			8	1180	+	-	-	Ovarian(276;0.236)		Frame_Shift_Del	311						
CLCN6	1185	broad.mit.edu	GRCh37	1	11897130	11897130	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs137976806		TCGA-06-0130-01	TCGA-06-0130-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000346436.6:c.2055G>C	p.Glu685Asp	p.E685D	ENST00000346436	NM_001286.3	685	gaG/gaC	0			1			C	E/D	uc001ate.3	protein_coding	YES	CCDS138.1			2055/2610										0	c.(2053-2055)GAG>GAC			hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF69	chloride channel 6 isoform ClC-6a				ENSP00000234488		19/23									COSM2149530	19/23	.		ENST00000346436	Transcript			cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	ENSG00000011021	g.chr1:11897130G>C	2024			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=CLCN6_HUMAN&rb=648&re=802&var=E685D	NA	getma.org/?cm=var&var=hg19,1,11897130,G,C&fts=all	E685D	--	--	1																																		CLCN6_uc010oat.1_Missense_Mutation_p.E401D|CLCN6_uc010oau.1_Missense_Mutation_p.E663D	1	1		benign(0.184)	p.E685D	NM_001286	NP_001277		tolerated(0.33)	1	CLCN6_HUMAN	CLCN6	HGNC	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)			19	2168	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	UPI000013F2D3	685			Cytoplasmic (By similarity).		SNV	CLCN6,missense_variant,p.Glu685Asp,ENST00000346436,NM_001286.3;CLCN6,missense_variant,p.Glu663Asp,ENST00000376487,NM_001256959.1;CLCN6,missense_variant,p.Glu685Asp,ENST00000376496,;CLCN6,3_prime_UTR_variant,,ENST00000312413,;NPPA-AS1,upstream_gene_variant,,ENST00000446542,;CLCN6,downstream_gene_variant,,ENST00000494028,;	uc001ate.3	c.2055G>C	2107/5583	3	3			c.2055G>C						1	SNP	c.(2053-2055)GAG>GAC	55	55				0	Broad	chloride channel 6 isoform ClC-6a			11897130		0.622	ENSG00000011021	3404	g.chr1:11897130G>C	cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity							39.510141	KEEP	3	13	-1	27	39	3	13	-1	45.368436	27	39	0.2	1	0	0	0	0	1	0	0	0	--	--		0	C			CLCN6_uc010oat.1_Missense_Mutation_p.E401D|CLCN6_uc010oau.1_Missense_Mutation_p.E663D	16	GBM-06-0130-TP	p.E685D	G	CATCCAGCGAGCTACGGAACA	NM_001286	NP_001277	11897130	P51797	CLCN6_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	19	2168	+	C	C	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	685			Cytoplasmic (By similarity).			
CLCN6	1185	broad.mit.edu	GRCh37	1	11893604	11893605	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-06-5858-01	TCGA-06-5858-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000346436.6:c.1288dup	p.Cys430LeufsTer4	p.C430Lfs*4	ENST00000346436	NM_001286.3	427	-/T	0			1			T	-/X	uc001ate.3	protein_coding	YES	CCDS138.1			1281-1282/2610										0	c.(1279-1284)ACATTTfs			Pfam_domain:PF00654,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF69	chloride channel 6 isoform ClC-6a				ENSP00000234488		14/23									rs778208569	14/23	.		ENST00000346436	Transcript			cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	ENSG00000011021	g.chr1:11893604_11893605insT	2024	7		HIGH								--	--	1																																		CLCN6_uc010oat.1_Frame_Shift_Ins_p.T143fs|CLCN6_uc010oau.1_Frame_Shift_Ins_p.T405fs		1			p.T427fs	NM_001286	NP_001277				CLCN6_HUMAN	CLCN6	HGNC	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)			14	1394_1395	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	UPI000013F2D3	427_428					insertion	CLCN6,frameshift_variant,p.Cys430LeufsTer4,ENST00000346436,NM_001286.3;CLCN6,frameshift_variant,p.Cys408LeufsTer4,ENST00000376487,NM_001256959.1;CLCN6,frameshift_variant,p.Cys430LeufsTer4,ENST00000376496,;CLCN6,3_prime_UTR_variant,,ENST00000312413,;CLCN6,non_coding_transcript_exon_variant,,ENST00000494028,;CLCN6,downstream_gene_variant,,ENST00000376492,;	uc001ate.3	c.1281_1282insT	1333-1334/5583	5	5			c.1281_1282insT						1	INS	c.(1279-1284)ACATTTfs	7	7				0	Broad	chloride channel 6 isoform ClC-6a			11893605		0.455	ENSG00000011021	3404	g.chr1:11893604_11893605insT	cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity																				0.12	1	0	0	1	1	0	0	0	0	--	--		0	T			CLCN6_uc010oat.1_Frame_Shift_Ins_p.T143fs|CLCN6_uc010oau.1_Frame_Shift_Ins_p.T405fs	102	GBM-06-5858-TP	p.T427fs	-	GTATCAAGACATTTTTTTGTCC	NM_001286	NP_001277	11893604	P51797	CLCN6_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	14	1394_1395	+	T	T	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	Frame_Shift_Ins	427_428						
CLCN6	0	broad.mit.edu	GRCh37	1	11897139	11897139	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5955-01	TCGA-19-5955-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000346436.6:c.2064C>T	p.Asn688=	p.N688=	ENST00000346436	NM_001286.3	688	aaC/aaT	0			1			T	N	uc001ate.3	protein_coding	YES	CCDS138.1			2064/2610										0	c.(2062-2064)AAC>AAT			hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF69	chloride channel 6 isoform ClC-6a				ENSP00000234488		19/23									COSM3399594	19/23	.		ENST00000346436	Transcript			cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	ENSG00000011021	g.chr1:11897139C>T	2024			LOW								--	--	1																																		CLCN6_uc010oat.1_Silent_p.N404N|CLCN6_uc010oau.1_Silent_p.N666N	1	1			p.N688N	NM_001286	NP_001277			1	CLCN6_HUMAN	CLCN6	HGNC	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)			19	2177	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	UPI000013F2D3	688			Cytoplasmic (By similarity).		SNV	CLCN6,synonymous_variant,p.=,ENST00000346436,NM_001286.3;CLCN6,synonymous_variant,p.=,ENST00000376487,NM_001256959.1;CLCN6,synonymous_variant,p.=,ENST00000376496,;CLCN6,3_prime_UTR_variant,,ENST00000312413,;NPPA-AS1,upstream_gene_variant,,ENST00000446542,;CLCN6,downstream_gene_variant,,ENST00000494028,;	uc001ate.3	c.2064C>T	2116/5583	1	1			c.2064C>T						1	SNP	c.(2062-2064)AAC>AAT	7	7				0	Broad	chloride channel 6 isoform ClC-6a			11897139		0.632	ENSG00000011021	3404	g.chr1:11897139C>T	cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity							3.238456	KEEP	1	5	-1	26	20	1	5	-1	11.229991	26	20	0.1	1	0	0	0	0	0	0	1	0	--	--		0	T			CLCN6_uc010oat.1_Silent_p.N404N|CLCN6_uc010oau.1_Silent_p.N666N	175	GBM-19-5955-TP	p.N688N	C	AGCTACGGAACATGTGTGATG	NM_001286	NP_001277	11897139	P51797	CLCN6_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	19	2177	+	T	T	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	Silent	688			Cytoplasmic (By similarity).			
CLCN7	1186	broad.mit.edu	GRCh37	16	1507256	1507256	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0875-01	TCGA-06-0875-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382745.4:c.821A>G	p.Lys274Arg	p.K274R	ENST00000382745	NM_001287.5	274	aAg/aGg	0			1			C	K/R	uc002clv.2	protein_coding	YES	CCDS32361.1			821/2418									central_nervous_system(2)|ovary(1)|skin(1)	4	c.(820-822)AAG>AGG			hmmpanther:PTHR11689:SF14,hmmpanther:PTHR11689,Gene3D:1otsB00,Pfam_domain:PF00654,Superfamily_domains:SSF81340	chloride channel 7 isoform a				ENSP00000372193		25-Sep	1.65E-05					3.02E-05			rs775085622,COSM2151996	25-Sep	.		ENST00000382745	Transcript	1			integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	ENSG00000103249	g.chr16:1507256T>C	2025			MODERATE		-0.205	neutral	getma.org/?cm=msa&ty=f&p=CLCN7_HUMAN&rb=185&re=596&var=K274R	getma.org/pdb.php?prot=CLCN7_HUMAN&from=185&to=596&var=K274R	getma.org/?cm=var&var=hg19,16,1507256,T,C&fts=all	K274R	--	--	1																																		CLCN7_uc002clw.2_Missense_Mutation_p.K250R	0,1	1		benign(0.007)	p.K274R	NM_001287	NP_001278		tolerated(0.33)	0,1	CLCN7_HUMAN	CLCN7	HGNC	P51798	CLCN7_HUMAN			Q9BSM4_HUMAN,Q96RY8_HUMAN,I3L470_HUMAN,B3KXZ3_HUMAN		9	931	-		Hepatocellular(780;0.0893)	UPI000004904C	274					SNV	CLCN7,missense_variant,p.Lys274Arg,ENST00000382745,NM_001287.5;CLCN7,missense_variant,p.Lys250Arg,ENST00000448525,NM_001114331.2;CLCN7,missense_variant,p.Lys250Arg,ENST00000262318,;CLCN7,missense_variant,p.Lys216Arg,ENST00000569851,;CLCN7,downstream_gene_variant,,ENST00000564568,;LA16c-390E6.4,downstream_gene_variant,,ENST00000563610,;CLCN7,splice_region_variant,,ENST00000563822,;CLCN7,downstream_gene_variant,,ENST00000564968,;CLCN7,downstream_gene_variant,,ENST00000567139,;CLCN7,downstream_gene_variant,,ENST00000561665,;	uc002clv.2	c.821A>G	1427/4720	4	4			c.821A>G						16	SNP	c.(820-822)AAG>AGG	42	42			central_nervous_system(2)|ovary(1)|skin(1)	4	Broad	chloride channel 7 isoform a			1507256		0.592	ENSG00000103249	3405	g.chr16:1507256T>C		integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity							63.836892	KEEP	9	14	-1	34	40	9	14	-1	68.783104	34	40	0.247059	1	0	0	0	0	1	0	0	0	--	--		0	C			CLCN7_uc002clw.2_Missense_Mutation_p.K250R	71	GBM-06-0875-TP	p.K274R	T	TCAACTCACCTTGAAATCTCG	NM_001287	NP_001278	1507256	P51798	CLCN7_HUMAN	0			9	931	-	C	C		Hepatocellular(780;0.0893)	Missense_Mutation	274						
CLCN7	0	broad.mit.edu	GRCh37	16	1510943	1510943	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01	TCGA-27-1830-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382745.4:c.358C>T	p.Arg120Trp	p.R120W	ENST00000382745	NM_001287.5	120	Cgg/Tgg	0			1			A	R/W	uc002clv.2	protein_coding	YES	CCDS32361.1			358/2418									central_nervous_system(2)|ovary(1)|skin(1)	4	c.(358-360)CGG>TGG			hmmpanther:PTHR11689:SF14,hmmpanther:PTHR11689,Gene3D:1otsB00,Superfamily_domains:SSF81340	chloride channel 7 isoform a				ENSP00000372193		25-May									rs763806969,COSM3402094	25-May	.		ENST00000382745	Transcript	1			integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	ENSG00000103249	g.chr16:1510943G>A	2025			MODERATE		0.255	neutral	getma.org/?cm=msa&ty=f&p=CLCN7_HUMAN&rb=1&re=184&var=R120W	NA	getma.org/?cm=var&var=hg19,16,1510943,G,A&fts=all	R120W	--	--	1																																		CLCN7_uc002clw.2_Missense_Mutation_p.R96W	0,1	1		benign(0.014)	p.R120W	NM_001287	NP_001278		tolerated(0.09)	0,1	CLCN7_HUMAN	CLCN7	HGNC	P51798	CLCN7_HUMAN			Q9BSM4_HUMAN,Q96RY8_HUMAN,I3L470_HUMAN,B3KXZ3_HUMAN		5	468	-		Hepatocellular(780;0.0893)	UPI000004904C	120			Cytoplasmic (By similarity).		SNV	CLCN7,missense_variant,p.Arg120Trp,ENST00000382745,NM_001287.5;CLCN7,missense_variant,p.Arg96Trp,ENST00000448525,NM_001114331.2;CLCN7,missense_variant,p.Arg96Trp,ENST00000262318,;CLCN7,missense_variant,p.Arg62Trp,ENST00000569851,;CLCN7,missense_variant,p.Arg85Trp,ENST00000564568,;CLCN7,non_coding_transcript_exon_variant,,ENST00000567139,;CLCN7,non_coding_transcript_exon_variant,,ENST00000561665,;CLCN7,upstream_gene_variant,,ENST00000563822,;CLCN7,upstream_gene_variant,,ENST00000564968,;	uc002clv.2	c.358C>T	964/4720	1	1			c.358C>T						16	SNP	c.(358-360)CGG>TGG	51	51			central_nervous_system(2)|ovary(1)|skin(1)	4	Broad	chloride channel 7 isoform a			1510943		0.682	ENSG00000103249	3405	g.chr16:1510943G>A		integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity							-10.843985	KEEP	1	2	-1	46	37	1	2	-1	6.828499	46	37	0.038961	1	0	0	0	0	1	0	0	0	--	--		0	A			CLCN7_uc002clw.2_Missense_Mutation_p.R96W	189	GBM-27-1830-TP	p.R120W	G	TCCACCGTCCGGAAGGCCTGC	NM_001287	NP_001278	1510943	P51798	CLCN7_HUMAN	0			5	468	-	A	A		Hepatocellular(780;0.0893)	Missense_Mutation	120			Cytoplasmic (By similarity).			
CLCN7	0	broad.mit.edu	GRCh37	16	1507256	1507256	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-2502-01	TCGA-28-2502-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382745.4:c.821A>G	p.Lys274Arg	p.K274R	ENST00000382745	NM_001287.5	274	aAg/aGg	0			1			C	K/R	uc002clv.2	protein_coding	YES	CCDS32361.1			821/2418									central_nervous_system(2)|ovary(1)|skin(1)	4	c.(820-822)AAG>AGG			hmmpanther:PTHR11689:SF14,hmmpanther:PTHR11689,Gene3D:1otsB00,Pfam_domain:PF00654,Superfamily_domains:SSF81340	chloride channel 7 isoform a				ENSP00000372193		25-Sep	1.65E-05					3.02E-05			rs775085622,COSM2151996	25-Sep	.		ENST00000382745	Transcript	1			integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	ENSG00000103249	g.chr16:1507256T>C	2025			MODERATE		-0.205	neutral	getma.org/?cm=msa&ty=f&p=CLCN7_HUMAN&rb=185&re=596&var=K274R	getma.org/pdb.php?prot=CLCN7_HUMAN&from=185&to=596&var=K274R	getma.org/?cm=var&var=hg19,16,1507256,T,C&fts=all	K274R	--	--	1																																		CLCN7_uc002clw.2_Missense_Mutation_p.K250R	0,1	1		benign(0.007)	p.K274R	NM_001287	NP_001278		tolerated(0.33)	0,1	CLCN7_HUMAN	CLCN7	HGNC	P51798	CLCN7_HUMAN			Q9BSM4_HUMAN,Q96RY8_HUMAN,I3L470_HUMAN,B3KXZ3_HUMAN		9	931	-		Hepatocellular(780;0.0893)	UPI000004904C	274					SNV	CLCN7,missense_variant,p.Lys274Arg,ENST00000382745,NM_001287.5;CLCN7,missense_variant,p.Lys250Arg,ENST00000448525,NM_001114331.2;CLCN7,missense_variant,p.Lys250Arg,ENST00000262318,;CLCN7,missense_variant,p.Lys216Arg,ENST00000569851,;CLCN7,downstream_gene_variant,,ENST00000564568,;LA16c-390E6.4,downstream_gene_variant,,ENST00000563610,;CLCN7,splice_region_variant,,ENST00000563822,;CLCN7,downstream_gene_variant,,ENST00000564968,;CLCN7,downstream_gene_variant,,ENST00000567139,;CLCN7,downstream_gene_variant,,ENST00000561665,;	uc002clv.2	c.821A>G	1427/4720	4	4			c.821A>G						16	SNP	c.(820-822)AAG>AGG	42	42			central_nervous_system(2)|ovary(1)|skin(1)	4	Broad	chloride channel 7 isoform a			1507256		0.592	ENSG00000103249	3405	g.chr16:1507256T>C		integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity							87.020415	KEEP	12	20	-1	41	25	12	20	-1	89.875451	41	25	0.305882	1	0	0	0	0	1	0	0	0	--	--		0	C			CLCN7_uc002clw.2_Missense_Mutation_p.K250R	210	GBM-28-2502-TP	p.K274R	T	TCAACTCACCTTGAAATCTCG	NM_001287	NP_001278	1507256	P51798	CLCN7_HUMAN	0			9	931	-	C	C		Hepatocellular(780;0.0893)	Missense_Mutation	274						
CLCNKA	1187	broad.mit.edu	GRCh37	1	16355293	16355293	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331433.4:c.1006G>A	p.Ala336Thr	p.A336T	ENST00000331433		336	Gcc/Acc	0	A:0		1			A	A/T	uc001axu.2	protein_coding	YES	CCDS167.1			1006/2064									ovary(1)	1	c.(1006-1008)GCC>ACC			Gene3D:1otsB00,Pfam_domain:PF00654,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF78,Low_complexity_(Seg):seg,Superfamily_domains:SSF81340,Transmembrane_helices:TMhelix	chloride channel Ka isoform 1	Niflumic Acid(DB04552)		A:0.0002	ENSP00000332771		20-Nov	5.77E-05		8.64E-05			9.02E-05			rs369364364,COSM2149899	20-Nov	.		ENST00000331433	Transcript	1		excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	ENSG00000186510	g.chr1:16355293G>A	2026			MODERATE		2.16	medium	getma.org/?cm=msa&ty=f&p=CLCKA_HUMAN&rb=102&re=514&var=A336T	getma.org/pdb.php?prot=CLCKA_HUMAN&from=102&to=514&var=A336T	getma.org/?cm=var&var=hg19,1,16355293,G,A&fts=all	A336T	--	--	1																																		CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.A336T|CLCNKA_uc010obw.1_Missense_Mutation_p.A293T|CLCNKB_uc001axw.3_Intron|CLCNKA_uc010obx.1_5'UTR|CLCNKA_uc010oby.1_Missense_Mutation_p.R65H	0,1	1		probably_damaging(0.985)	p.A336T	NM_004070	NP_004061		deleterious(0.01)	0,1	CLCKA_HUMAN	CLCNKA	HGNC	P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)			11	1086	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	UPI0000127993	336			Helical; (Potential).		SNV	CLCNKA,missense_variant,p.Ala336Thr,ENST00000375692,;CLCNKA,missense_variant,p.Ala336Thr,ENST00000420078,NM_004070.3,NM_001042704.1,NM_001257139.1;CLCNKA,missense_variant,p.Ala336Thr,ENST00000331433,;CLCNKA,missense_variant,p.Ala293Thr,ENST00000439316,;CLCNKA,non_coding_transcript_exon_variant,,ENST00000464764,;CLCNKA,non_coding_transcript_exon_variant,,ENST00000491433,;CLCNKA,downstream_gene_variant,,ENST00000495784,;	uc001axu.2	c.1006G>A	1025/2475	2	2			c.1006G>A						1	SNP	c.(1006-1008)GCC>ACC	24	24			ovary(1)	1	Broad	chloride channel Ka isoform 1		Niflumic Acid(DB04552)	16355293		0.632	ENSG00000186510	3406	g.chr1:16355293G>A	excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity							135.123165	KEEP	42	38	-1	159	142	42	38	-1	158.630488	159	142	0.208054	1	0	0	0	0	1	0	0	0	--	--		0	A			CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.A336T|CLCNKA_uc010obw.1_Missense_Mutation_p.A293T|CLCNKB_uc001axw.3_Intron|CLCNKA_uc010obx.1_5'UTR|CLCNKA_uc010oby.1_Missense_Mutation_p.R65H	26	GBM-06-0154-TP	p.A336T	G	CTTGCTTCTCGCCTCCATCAC	NM_004070	NP_004061	16355293	P51800	CLCKA_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	11	1086	+	A	A		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	336			Helical; (Potential).			
CLCNKB	1188	broad.mit.edu	GRCh37	1	16378751	16378751	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0155-01	TCGA-06-0155-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375679.4:c.1467C>T	p.Phe489=	p.F489=	ENST00000375679	NM_000085.4	489	ttC/ttT	0		T:0.0008	1	T:0		T	F	uc001axw.3	protein_coding	YES	CCDS168.1			1467/2064									skin(1)	1	c.(1465-1467)TTC>TTT			Gene3D:1otsB00,Pfam_domain:PF00654,Prints_domain:PR00762,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF78,Superfamily_domains:SSF81340,Transmembrane_helices:TMhelix	chloride channel Kb isoform 1		T:0		ENSP00000364831	T:0.001	15/20	6.59E-05	9.76E-05				9.12E-05			rs535003549,COSM2149965,COSM3399947	15/20	.		ENST00000375679	Transcript	1	T:0.0004	excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	ENSG00000184908	g.chr1:16378751C>T	2027			LOW								--	--	1																																		FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Silent_p.F489F|CLCNKB_uc001axy.3_Silent_p.F320F	0,1,1	1			p.F489F	NM_000085	NP_000076	T:0		0,1,1	CLCKB_HUMAN	CLCNKB	HGNC	P51801	CLCKB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)			15	1547	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	UPI000040E261	489			Helical; (Potential).		SNV	CLCNKB,synonymous_variant,p.=,ENST00000375679,NM_000085.4;CLCNKB,synonymous_variant,p.=,ENST00000375667,NM_001165945.2;CLCNKB,upstream_gene_variant,,ENST00000431772,;	uc001axw.3	c.1467C>T	1578/2567	2	2			c.1467C>T						1	SNP	c.(1465-1467)TTC>TTT	46	46			skin(1)	1	Broad	chloride channel Kb isoform 1			16378751		0.657	ENSG00000184908	3407	g.chr1:16378751C>T	excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity							52.704414	KEEP	13	13	-1	43	47	13	13	-1	58.972428	43	47	0.231579	1	0	0	0	0	0	0	1	0	--	--		0	T			FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Silent_p.F489F|CLCNKB_uc001axy.3_Silent_p.F320F	27	GBM-06-0155-TP	p.F489F	C	TGCTGGCCTTCGAGGTGACCG	NM_000085	NP_000076	16378751	P51801	CLCKB_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	15	1547	+	T	T		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	Silent	489			Helical; (Potential).			
CLCNKB	0	broad.mit.edu	GRCh37	1	16378220	16378220	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01	TCGA-14-1825-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375679.4:c.1313G>A	p.Arg438His	p.R438H	ENST00000375679	NM_000085.4	438	cGc/cAc	0	A:0.0005		1			A	R/H	uc001axw.3	protein_coding	YES	CCDS168.1			1313/2064									skin(1)	1	c.(1312-1314)CGC>CAC			Gene3D:1otsB00,Pfam_domain:PF00654,Prints_domain:PR00762,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF78,Superfamily_domains:SSF81340,Transmembrane_helices:TMhelix	chloride channel Kb isoform 1			A:0	ENSP00000364831		14/20	1.65E-05	9.62E-05						6.06E-05	rs201540273,COSM243720,COSM3399946	14/20	.		ENST00000375679	Transcript	1		excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	ENSG00000184908	g.chr1:16378220G>A	2027			MODERATE		2.79	medium	getma.org/?cm=msa&ty=f&p=CLCKB_HUMAN&rb=102&re=514&var=R438H	getma.org/pdb.php?prot=CLCKB_HUMAN&from=102&to=514&var=R438H	getma.org/?cm=var&var=hg19,1,16378220,G,A&fts=all	R438H	--	--	1																																		FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.R438H|CLCNKB_uc001axy.3_Missense_Mutation_p.R269H	0,1,1	1		probably_damaging(1)	p.R438H	NM_000085	NP_000076		deleterious(0)	0,1,1	CLCKB_HUMAN	CLCNKB	HGNC	P51801	CLCKB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)			14	1393	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	UPI000040E261	438		R -> C (in BS3).			SNV	CLCNKB,missense_variant,p.Arg438His,ENST00000375679,NM_000085.4;CLCNKB,missense_variant,p.Arg269His,ENST00000375667,NM_001165945.2;CLCNKB,upstream_gene_variant,,ENST00000431772,;	uc001axw.3	c.1313G>A	1424/2567	1	1			c.1313G>A						1	SNP	c.(1312-1314)CGC>CAC	49	49			skin(1)	1	Broad	chloride channel Kb isoform 1			16378220		0.622	ENSG00000184908	3407	g.chr1:16378220G>A	excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity							269.633699	KEEP	59	45	-1	86	60	59	45	-1	270.257661	86	60	0.44186	1	0	0	0	0	1	0	0	0	--	--		0	A			FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.R438H|CLCNKB_uc001axy.3_Missense_Mutation_p.R269H	148	GBM-14-1825-TP	p.R438H	G	GCTATCGGGCGCCTCTTTGGG	NM_000085	NP_000076	16378220	P51801	CLCKB_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	14	1393	+	A	A		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	438		R -> C (in BS3).				
CLCNKB	0	broad.mit.edu	GRCh37	1	16377403	16377403	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01	TCGA-32-2494-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375679.4:c.1087G>A	p.Asp363Asn	p.D363N	ENST00000375679	NM_000085.4	363	Gac/Aac	0			1			A	D/N	uc001axw.3	protein_coding	YES	CCDS168.1			1087/2064									skin(1)	1	c.(1087-1089)GAC>AAC			Gene3D:1otsB00,Pfam_domain:PF00654,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF78,Superfamily_domains:SSF81340	chloride channel Kb isoform 1				ENSP00000364831		20-Dec	8.24E-06		8.71E-05						rs779798035,COSM898851,COSM3399945	20-Dec	.		ENST00000375679	Transcript	1		excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	ENSG00000184908	g.chr1:16377403G>A	2027			MODERATE		1.915	medium	getma.org/?cm=msa&ty=f&p=CLCKB_HUMAN&rb=102&re=514&var=D363N	getma.org/pdb.php?prot=CLCKB_HUMAN&from=102&to=514&var=D363N	getma.org/?cm=var&var=hg19,1,16377403,G,A&fts=all	D363N	--	--	1																																		FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.D363N|CLCNKB_uc001axy.3_Missense_Mutation_p.D194N	0,1,1	1		possibly_damaging(0.811)	p.D363N	NM_000085	NP_000076		deleterious(0)	0,1,1	CLCKB_HUMAN	CLCNKB	HGNC	P51801	CLCKB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)			12	1167	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	UPI000040E261	363					SNV	CLCNKB,missense_variant,p.Asp363Asn,ENST00000375679,NM_000085.4;CLCNKB,missense_variant,p.Asp194Asn,ENST00000375667,NM_001165945.2;CLCNKB,upstream_gene_variant,,ENST00000431772,;	uc001axw.3	c.1087G>A	1198/2567	2	2			c.1087G>A						1	SNP	c.(1087-1089)GAC>AAC	26	26			skin(1)	1	Broad	chloride channel Kb isoform 1			16377403		0.672	ENSG00000184908	3407	g.chr1:16377403G>A	excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity							31.919181	KEEP	8	11	-1	43	42	8	11	-1	36.58177	43	42	0.21875	1	0	0	0	0	1	0	0	0	--	--		0	A			FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.D363N|CLCNKB_uc001axy.3_Missense_Mutation_p.D194N	236	GBM-32-2494-TP	p.D363N	G	CTCGCTGTTCGACAACCACTC	NM_000085	NP_000076	16377403	P51801	CLCKB_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	12	1167	+	A	A		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	363						
CLCNKB	0	broad.mit.edu	GRCh37	1	16377396	16377396	+	synonymous_variant	Silent	SNP	G	G	A	rs140705060		TCGA-32-2495-01	TCGA-32-2495-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375679.4:c.1080G>A	p.Ser360=	p.S360=	ENST00000375679	NM_000085.4	360	tcG/tcA	0	A:0		1			A	S	uc001axw.3	protein_coding	YES	CCDS168.1			1080/2064									skin(1)	1	c.(1078-1080)TCG>TCA			Gene3D:1otsB00,Pfam_domain:PF00654,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF78,Superfamily_domains:SSF81340	chloride channel Kb isoform 1			A:0.0001	ENSP00000364831		20-Dec	0.000148		8.74E-05		0.000153	0.000244			rs140705060,COSM3399943,COSM3399944	20-Dec	.		ENST00000375679	Transcript	1		excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	ENSG00000184908	g.chr1:16377396G>A	2027			LOW								--	--	1																																		FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Silent_p.S360S|CLCNKB_uc001axy.3_Silent_p.S191S	0,1,1	1			p.S360S	NM_000085	NP_000076			0,1,1	CLCKB_HUMAN	CLCNKB	HGNC	P51801	CLCKB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)			12	1160	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	UPI000040E261	360					SNV	CLCNKB,synonymous_variant,p.=,ENST00000375679,NM_000085.4;CLCNKB,synonymous_variant,p.=,ENST00000375667,NM_001165945.2;CLCNKB,upstream_gene_variant,,ENST00000431772,;	uc001axw.3	c.1080G>A	1191/2567	2	2			c.1080G>A						1	SNP	c.(1078-1080)TCG>TCA	46	46			skin(1)	1	Broad	chloride channel Kb isoform 1			16377396		0.667	ENSG00000184908	3407	g.chr1:16377396G>A	excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity							57.580342	KEEP	14	11	-1	30	28	14	11	-1	59.182453	30	28	0.327869	1	0	0	0	0	0	0	1	0	--	--		0	A			FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Silent_p.S360S|CLCNKB_uc001axy.3_Silent_p.S191S	237	GBM-32-2495-TP	p.S360S	G	ATCTGGACTCGCTGTTCGACA	NM_000085	NP_000076	16377396	P51801	CLCKB_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	12	1160	+	A	A		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	Silent	360						
CLDN14	0	broad.mit.edu	GRCh37	21	37833394	37833394	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-1837-01	TCGA-27-1837-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342108.2:c.600C>T	p.Ala200=	p.A200=	ENST00000342108	NM_001146077.1	200	gcC/gcT	0			1			A	A	uc002yvk.1	protein_coding		CCDS13645.1			600/720										0	c.(598-600)GCC>GCT			Low_complexity_(Seg):seg,hmmpanther:PTHR12002:SF82,hmmpanther:PTHR12002	claudin 14				ENSP00000339292		3-Mar									COSM3405383	3-Mar	.		ENST00000342108	Transcript	1		calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity	ENSG00000159261	g.chr21:37833394G>A	2035			LOW								--	--	1																																		CLDN14_uc002yvn.1_Silent_p.A200A|CLDN14_uc002yvo.1_Silent_p.A200A|CLDN14_uc002yvl.1_Silent_p.A200A|CLDN14_uc002yvm.1_Silent_p.A200A	1				p.A200A	NM_012130	NP_036262			1	CLD14_HUMAN	CLDN14	HGNC	O95500	CLD14_HUMAN					2	742	-			UPI0000048F0B	200			Cytoplasmic (Potential).		SNV	CLDN14,synonymous_variant,p.=,ENST00000399137,NM_144492.2;CLDN14,synonymous_variant,p.=,ENST00000399135,NM_001146079.1;CLDN14,synonymous_variant,p.=,ENST00000342108,NM_001146077.1;CLDN14,synonymous_variant,p.=,ENST00000399136,NM_001146078.2;CLDN14,synonymous_variant,p.=,ENST00000399139,NM_012130.3;AP000695.6,intron_variant,,ENST00000429588,;AP000695.4,intron_variant,,ENST00000428667,;AP000695.4,downstream_gene_variant,,ENST00000454980,;	uc002yvk.1	c.600C>T	978/1453	1	1			c.600C>T						21	SNP	c.(598-600)GCC>GCT	51	51				0	Broad	claudin 14			37833394		0.652	ENSG00000159261	3412	g.chr21:37833394G>A	calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity							75.367083	KEEP	13	17	-1	19	17	13	17	-1	75.554289	19	17	0.438596	1	0	0	0	0	0	0	1	0	--	--		0	A			CLDN14_uc002yvn.1_Silent_p.A200A|CLDN14_uc002yvo.1_Silent_p.A200A|CLDN14_uc002yvl.1_Silent_p.A200A|CLDN14_uc002yvm.1_Silent_p.A200A	196	GBM-27-1837-TP	p.A200A	G	TGGTCGTGGTGGCCCTGGGCG	NM_012130	NP_036262	37833394	O95500	CLD14_HUMAN	0			2	742	-	A	A			Silent	200			Cytoplasmic (Potential).			
CLDN14	23562		GRCh37	21	37833779	37833779	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000399137.1:c.215C>T	p.Ala72Val	p.A72V	ENST00000399137	NM_144492.2	72	gCg/gTg	0																																																																																																																																																																																																																																												
CLDN15	0	broad.mit.edu	GRCh37	7	100877603	100877603	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-5955-01	TCGA-19-5955-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308344.5:c.338A>G	p.Lys113Arg	p.K113R	ENST00000308344	NM_014343.2	113	aAa/aGa	0			1			C	K/R	uc003uyg.1	protein_coding		CCDS5717.1			338/687									ovary(1)	1	c.(337-339)AAA>AGA			Pfam_domain:PF00822,hmmpanther:PTHR12002,hmmpanther:PTHR12002:SF74	claudin 15				ENSP00000308870		5-Feb									COSM3411410	5-Feb	.		ENST00000308344	Transcript			calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	ENSG00000106404	g.chr7:100877603T>C	2036			MODERATE		3.035	medium	getma.org/?cm=msa&ty=f&p=CLD15_HUMAN&rb=3&re=179&var=K113R	NA	getma.org/?cm=var&var=hg19,7,100877603,T,C&fts=all	K113R	--	--	1																																		CLDN15_uc003uyh.1_Missense_Mutation_p.K113R|CLDN15_uc003uyi.2_3'UTR	1			probably_damaging(1)	p.K113R	NM_014343	NP_055158		deleterious(0)	1	CLD15_HUMAN	CLDN15	HGNC	P56746	CLD15_HUMAN					2	592	-	Lung NSC(181;0.168)|all_lung(186;0.215)		UPI0000127AB6	113			Cytoplasmic (Potential).		SNV	CLDN15,missense_variant,p.Lys113Arg,ENST00000401528,NM_001185080.1;CLDN15,missense_variant,p.Lys113Arg,ENST00000308344,NM_014343.2;CLDN15,missense_variant,p.Lys90Arg,ENST00000412417,;CLDN15,intron_variant,,ENST00000414035,;CLDN15,downstream_gene_variant,,ENST00000433422,;CLDN15,missense_variant,p.Lys79Arg,ENST00000433833,;CLDN15,non_coding_transcript_exon_variant,,ENST00000463331,;	uc003uyg.1	c.338A>G	703/1370	3	3			c.338A>G						7	SNP	c.(337-339)AAA>AGA	7	7			ovary(1)	1	Broad	claudin 15			100877603		0.662	ENSG00000106404	3413	g.chr7:100877603T>C	calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity							35.334281	KEEP	10	15	-1	73	94	10	15	-1	57.993605	73	94	0.126506	1	0	0	0	0	1	0	0	0	--	--		0	C			CLDN15_uc003uyh.1_Missense_Mutation_p.K113R|CLDN15_uc003uyi.2_3'UTR	175	GBM-19-5955-TP	p.K113R	T	CAGCTTGGCTTTCCTGGAGAG	NM_014343	NP_055158	100877603	P56746	CLD15_HUMAN	0			2	592	-	C	C	Lung NSC(181;0.168)|all_lung(186;0.215)		Missense_Mutation	113			Cytoplasmic (Potential).			
CLDN17	0	broad.mit.edu	GRCh37	21	31538845	31538845	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-12-0615-01	TCGA-12-0615-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286808.3:c.91A>G	p.Arg31Gly	p.R31G	ENST00000286808	NM_012131.2	31	Aga/Gga	0			1			C	R/G	uc011acv.1	protein_coding	YES	CCDS13586.1			91/675									ovary(2)	2	c.(91-93)AGA>GGA			Prints_domain:PR01385,Pfam_domain:PF00822,hmmpanther:PTHR12002:SF75,hmmpanther:PTHR12002	claudin 17				ENSP00000286808		1-Jan									COSM2153518	1-Jan	.		ENST00000286808	Transcript			calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity	ENSG00000156282	g.chr21:31538845T>C	2038			MODERATE		3.515	high	getma.org/?cm=msa&ty=f&p=CLD17_HUMAN&rb=4&re=182&var=R31G	NA	getma.org/?cm=var&var=hg19,21,31538845,T,C&fts=all	R31G	--	--	1																																			1	1		probably_damaging(0.968)	p.R31G	NM_012131	NP_036263		deleterious(0)	1	CLD17_HUMAN	CLDN17	HGNC	P56750	CLD17_HUMAN					1	91	-			UPI000004E655	31			Extracellular (Potential).		SNV	CLDN17,missense_variant,p.Arg31Gly,ENST00000286808,NM_012131.2;	uc011acv.1	c.91A>G	127/731	4	4			c.91A>G						21	SNP	c.(91-93)AGA>GGA	33	33			ovary(2)	2	Broad	claudin 17			31538845		0.507	ENSG00000156282	3415	g.chr21:31538845T>C	calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity							222.881124	KEEP	29	42	-1	50	45	29	42	-1	223.314605	50	45	0.441379	1	0	0	0	0	1	0	0	0	--	--		0	C				117	GBM-12-0615-TP	p.R31G	T	GCTGATACTCTCCACTGAGGC	NM_012131	NP_036263	31538845	P56750	CLD17_HUMAN	0			1	91	-	C	C			Missense_Mutation	31			Extracellular (Potential).			
CLDN18	51208	broad.mit.edu	GRCh37	3	137717874	137717874	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0875-01	TCGA-06-0875-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343735.4:c.164G>A	p.Arg55Gln	p.R55Q	ENST00000343735	NM_001002026.2	55	cGa/cAa	0			1			A	R/Q	uc003ero.1	protein_coding		CCDS33862.1			164/786									upper_aerodigestive_tract(1)|ovary(1)	2	c.(163-165)CGA>CAA			hmmpanther:PTHR12002,hmmpanther:PTHR12002:SF9,PROSITE_patterns:PS01346,Pfam_domain:PF00822	claudin 18 isoform 2				ENSP00000340939		5-Jan	3.29E-05		0.000173			3.00E-05			rs772493450	5-Jan	.		ENST00000343735	Transcript			calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	ENSG00000066405	g.chr3:137717874G>A	2039			MODERATE								--	--	1																																				1		benign(0.009)	p.R55Q	NM_001002026	NP_001002026		tolerated(0.62)		CLD18_HUMAN	CLDN18	HGNC	P56856	CLD18_HUMAN					1	217	+			UPI000002A6AA	55			Extracellular (Potential).		SNV	CLDN18,missense_variant,p.Arg55Gln,ENST00000343735,NM_001002026.2;	uc003ero.1	c.164G>A	298/3431	2	2			c.164G>A						3	SNP	c.(163-165)CGA>CAA	17	17			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	claudin 18 isoform 2			137717874		0.602	ENSG00000066405	3416	g.chr3:137717874G>A	calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity							270.186286	KEEP	45	58	-1	97	70	45	58	-1	273.277656	97	70	0.380567	1	0	0	0	0	1	0	0	0	--	--		0	A				71	GBM-06-0875-TP	p.R55Q	G	TCCTGTGTCCGAGAGAGCTCT	NM_001002026	NP_001002026	137717874	P56856	CLD18_HUMAN	0			1	217	+	A	A			Missense_Mutation	55			Extracellular (Potential).			
CLDN18	51208	broad.mit.edu	GRCh37	3	137717743	137717743	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-1804-01	TCGA-06-1804-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343735.4:c.33C>T	p.Phe11=	p.F11=	ENST00000343735	NM_001002026.2	11	ttC/ttT	0			1			T	F	uc003ero.1	protein_coding		CCDS33862.1			33/786									upper_aerodigestive_tract(1)|ovary(1)	2	c.(31-33)TTC>TTT			Transmembrane_helices:TMhelix,hmmpanther:PTHR12002,hmmpanther:PTHR12002:SF9,Pfam_domain:PF00822	claudin 18 isoform 2				ENSP00000340939		5-Jan										5-Jan	.		ENST00000343735	Transcript			calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	ENSG00000066405	g.chr3:137717743C>T	2039			LOW								--	--	1																																				1			p.F11F	NM_001002026	NP_001002026				CLD18_HUMAN	CLDN18	HGNC	P56856	CLD18_HUMAN					1	86	+			UPI000002A6AA	11			Helical; (Potential).		SNV	CLDN18,synonymous_variant,p.=,ENST00000343735,NM_001002026.2;	uc003ero.1	c.33C>T	167/3431	2	2			c.33C>T						3	SNP	c.(31-33)TTC>TTT	21	21			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	claudin 18 isoform 2			137717743		0.557	ENSG00000066405	3416	g.chr3:137717743C>T	calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity							129.012836	KEEP	26	30	-1	52	70	26	30	-1	133.875461	52	70	0.314103	1	0	0	0	0	0	0	1	0	--	--		0	T				79	GBM-06-1804-TP	p.F11F	C	GCTTGGGGTTCGTGGTTTCAC	NM_001002026	NP_001002026	137717743	P56856	CLD18_HUMAN	0			1	86	+	T	T			Silent	11			Helical; (Potential).			
CLDN19	149461		GRCh37	1	43201615	43201615	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000296387.1:c.560C>T	p.Pro187Leu	p.P187L	ENST00000296387	NM_001123395.1	187	cCg/cTg	0																																																																																																																																																																																																																																												
CLDN25	644672	broad.mit.edu	GRCh37	11	113650596	113650596	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-2558-01	TCGA-06-2558-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000453129.2:c.79A>G	p.Thr27Ala	p.T27A	ENST00000453129	NM_001101389.1	27	Acc/Gcc	0			1			G	T/A	uc009yyw.1	protein_coding	YES	CCDS44736.1			79/690										0	c.(79-81)ACC>GCC			Transmembrane_helices:TMhelix,hmmpanther:PTHR12002,hmmpanther:PTHR12002:SF87,Pfam_domain:PF00822	claudin 25				ENSP00000396304		1-Jan									COSM3397418	1-Jan	.		ENST00000453129	Transcript				integral to membrane|tight junction	structural molecule activity	ENSG00000228607	g.chr11:113650596A>G	37218			MODERATE		1.315	low	getma.org/?cm=msa&ty=f&p=CLD25_HUMAN&rb=7&re=183&var=T27A	NA	getma.org/?cm=var&var=hg19,11,113650596,A,G&fts=all	T27A	--	--	1																																			1	1		benign(0.181)	p.T27A	NM_001101389	NP_001094859		deleterious(0.03)	1	CLD25_HUMAN	CLDN25	HGNC	C9JDP6	CLD25_HUMAN					1	79	+			UPI00000495B4	27			Helical; (Potential).		SNV	CLDN25,missense_variant,p.Thr27Ala,ENST00000453129,NM_001101389.1;	uc009yyw.1	c.79A>G	128/754	3	3			c.79A>G						11	SNP	c.(79-81)ACC>GCC	13	13				0	Broad	claudin 25			113650596		0.557	ENSG00000228607	3422	g.chr11:113650596A>G		integral to membrane|tight junction	structural molecule activity							21.028062	KEEP	14	8	-1	117	99	14	8	-1	54.89805	117	99	0.102326	1	0	0	0	0	1	0	0	0	--	--		0	G				82	GBM-06-2558-TP	p.T27A	A	CTCCTGTGTTACCACCATCCT	NM_001101389	NP_001094859	113650596	C9JDP6	CLD25_HUMAN	0			1	79	+	G	G			Missense_Mutation	27			Helical; (Potential).			
CLDN25	644672		GRCh37	11	113650759	113650759	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000453129.2:c.242G>A	p.Arg81His	p.R81H	ENST00000453129	NM_001101389.1	81	cGc/cAc	0																																																																																																																																																																																																																																												
CLDN7	0	broad.mit.edu	GRCh37	17	7163801	7163801	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2494-01	TCGA-32-2494-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360325.7:c.528C>T	p.Ile176=	p.I176=	ENST00000360325	NM_001307.5	176	atC/atT	0			1			A	I	uc002gfm.3	protein_coding	YES	CCDS11096.1			528/636									ovary(1)	1	c.(526-528)ATC>ATT			Pfam_domain:PF00822,Prints_domain:PR01077,hmmpanther:PTHR12002,hmmpanther:PTHR12002:SF78,Transmembrane_helices:TMhelix	claudin 7				ENSP00000353475		4-Apr									COSM3403183	4-Apr	.		ENST00000360325	Transcript			calcium-independent cell-cell adhesion	integral to membrane|lateral plasma membrane|tight junction	identical protein binding|structural molecule activity	ENSG00000181885	g.chr17:7163801G>A	2049			LOW								--	--	1																																		CLDN7_uc010cmc.2_3'UTR|CLDN7_uc002gfn.3_Silent_p.I176I	1	1			p.I176I	NM_001307	NP_001298			1	CLD7_HUMAN	CLDN7	HGNC	O95471	CLD7_HUMAN			K7EP40_HUMAN,I3L3L6_HUMAN		4	961	-			UPI0000140171	176			Helical; (Potential).		SNV	CLDN7,synonymous_variant,p.=,ENST00000360325,NM_001307.5;CLDN7,synonymous_variant,p.=,ENST00000397317,NM_001185022.1;CLDN7,synonymous_variant,p.=,ENST00000574070,;CLDN7,3_prime_UTR_variant,,ENST00000538261,NM_001185023.1;ELP5,downstream_gene_variant,,ENST00000574993,;ELP5,downstream_gene_variant,,ENST00000356683,NM_203413.1;ELP5,downstream_gene_variant,,ENST00000396628,NM_203414.1;ELP5,downstream_gene_variant,,ENST00000396627,NM_015362.3;ELP5,downstream_gene_variant,,ENST00000354429,NM_203415.1;ELP5,downstream_gene_variant,,ENST00000570322,;ELP5,downstream_gene_variant,,ENST00000576496,;ELP5,downstream_gene_variant,,ENST00000573699,;ELP5,downstream_gene_variant,,ENST00000573513,;CLDN7,downstream_gene_variant,,ENST00000571932,;CLDN7,downstream_gene_variant,,ENST00000571881,;CLDN7,downstream_gene_variant,,ENST00000575313,;ELP5,downstream_gene_variant,,ENST00000572104,;CLDN7,downstream_gene_variant,,ENST00000573745,;RP1-4G17.5,intron_variant,,ENST00000577138,;ELP5,downstream_gene_variant,,ENST00000571146,;	uc002gfm.3	c.528C>T	963/1542	1	1			c.528C>T						17	SNP	c.(526-528)ATC>ATT	63	63			ovary(1)	1	Broad	claudin 7			7163801		0.572	ENSG00000181885	3427	g.chr17:7163801G>A	calcium-independent cell-cell adhesion	integral to membrane|lateral plasma membrane|tight junction	identical protein binding|structural molecule activity							28.712938	KEEP	6	5	-1	11	15	6	5	-1	29.926211	11	15	0.305556	1	0	0	0	0	0	0	1	0	--	--		0	A			CLDN7_uc010cmc.2_3'UTR|CLDN7_uc002gfn.3_Silent_p.I176I	236	GBM-32-2494-TP	p.I176I	G	CACCTCCCAGGATGACTAGGG	NM_001307	NP_001298	7163801	O95471	CLD7_HUMAN	0			4	961	-	A	A			Silent	176			Helical; (Potential).			
CLDN9	9080	broad.mit.edu	GRCh37	16	3063836	3063836	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01	TCGA-06-0876-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000445369.2:c.473G>A	p.Arg158Gln	p.R158Q	ENST00000445369	NM_020982.3	158	cGg/cAg	0			1			A	R/Q	uc010uwo.1	protein_coding	YES	CCDS10487.1			473/654										0	c.(472-474)CGG>CAG			Pfam_domain:PF00822,Prints_domain:PR01077,hmmpanther:PTHR12002,hmmpanther:PTHR12002:SF42	claudin 9				ENSP00000398017		1-Jan	1.65E-05					3.22E-05			rs755753054,COSM3402273	1-Jan	.		ENST00000445369	Transcript			calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	ENSG00000213937	g.chr16:3063836G>A	2051			MODERATE		4.065	high	getma.org/?cm=msa&ty=f&p=CLD9_HUMAN&rb=4&re=181&var=R158Q	NA	getma.org/?cm=var&var=hg19,16,3063836,G,A&fts=all	R158Q	--	--	1																																			0,1	1		probably_damaging(0.92)	p.R158Q	NM_020982	NP_066192		deleterious(0.01)	0,1	CLD9_HUMAN	CLDN9	HGNC	O95484	CLD9_HUMAN					1	1380	+			UPI0000035DA5	158			Extracellular (Potential).		SNV	CLDN9,missense_variant,p.Arg158Gln,ENST00000445369,NM_020982.3;CLDN6,downstream_gene_variant,,ENST00000396925,;CLDN6,downstream_gene_variant,,ENST00000328796,NM_021195.4;TNFRSF12A,upstream_gene_variant,,ENST00000573001,;CLDN6,downstream_gene_variant,,ENST00000572154,;	uc010uwo.1	c.473G>A	1380/2050	1	1			c.473G>A						16	SNP	c.(472-474)CGG>CAG	49	49				0	Broad	claudin 9			3063836		0.701	ENSG00000213937	3429	g.chr16:3063836G>A	calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity							-20.302005	KEEP	3	1	-1	70	55	3	1	-1	7.629849	70	55	0.033898	1	0	0	0	0	1	0	0	0	--	--		0	A				72	GBM-06-0876-TP	p.R158Q	G	GCCCTCAAGCGGGAGCTGGGG	NM_020982	NP_066192	3063836	O95484	CLD9_HUMAN	0			1	1380	+	A	A			Missense_Mutation	158			Extracellular (Potential).			
CLEC10A	10462	broad.mit.edu	GRCh37	17	6978469	6978469	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6390-01	TCGA-06-6390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254868.4:c.855C>T	p.Phe285=	p.F285=	ENST00000254868	NM_182906.2	285	ttC/ttT	0			1			A	F	uc002gek.2	protein_coding	YES	CCDS11087.1			855/951										0	c.(853-855)TTC>TTT			PROSITE_profiles:PS50041,hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF224,PROSITE_patterns:PS00615,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436	C-type lectin, superfamily member 14 isoform 1				ENSP00000254868		9-Sep	8.24E-06			0.000116					rs780248039,COSM2153435	9-Sep	.		ENST00000254868	Transcript			endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding	ENSG00000132514	g.chr17:6978469G>A	16916			LOW								--	--	1																																		CLEC10A_uc002gej.2_Silent_p.F261F|CLEC10A_uc002gel.2_Silent_p.F258F|CLEC10A_uc010clv.1_3'UTR	0,1	1			p.F285F	NM_182906	NP_878910			0,1	CLC10_HUMAN	CLEC10A	HGNC	Q8IUN9	CLC10_HUMAN					9	1158	-			UPI0000074738	285			C-type lectin.|Extracellular (Potential).		SNV	CLEC10A,missense_variant,p.Pro130Ser,ENST00000576549,;CLEC10A,synonymous_variant,p.=,ENST00000254868,NM_182906.2;CLEC10A,synonymous_variant,p.=,ENST00000416562,NM_006344.2;CLEC10A,synonymous_variant,p.=,ENST00000571664,;CLEC10A,3_prime_UTR_variant,,ENST00000576617,;CLEC10A,downstream_gene_variant,,ENST00000571624,;	uc002gek.2	c.855C>T	1184/1797	1	1			c.855C>T						17	SNP	c.(853-855)TTC>TTT	55	55				0	Broad	C-type lectin, superfamily member 14 isoform 1			6978469		0.627	ENSG00000132514	3432	g.chr17:6978469G>A	endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding							78.625575	KEEP	10	21	-1	40	45	10	21	-1	84.015214	40	45	0.266055	1	0	0	0	0	0	0	1	0	--	--		0	A			CLEC10A_uc002gej.2_Silent_p.F261F|CLEC10A_uc002gel.2_Silent_p.F258F|CLEC10A_uc010clv.1_3'UTR	106	GBM-06-6390-TP	p.F285F	G	CGTCTGGATGGAAGTGAGCAC	NM_182906	NP_878910	6978469	Q8IUN9	CLC10_HUMAN	0			9	1158	-	A	A			Silent	285			C-type lectin.|Extracellular (Potential).			
CLEC14A	0	broad.mit.edu	GRCh37	14	38723845	38723845	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-14-0787-01	TCGA-14-0787-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342213.2:c.1383C>A	p.Asn461Lys	p.N461K	ENST00000342213	NM_175060.2	461	aaC/aaA	0			1			T	N/K	uc001wum.1	protein_coding	YES	CCDS9667.1			1383/1473									ovary(3)|skin(1)	4	c.(1381-1383)AAC>AAA			hmmpanther:PTHR24838:SF258,hmmpanther:PTHR24838	C-type lectin domain family 14, member A				ENSP00000353013		1-Jan									COSM3401306	1-Jan	.		ENST00000342213	Transcript				integral to membrane	sugar binding	ENSG00000176435	g.chr14:38723845G>T	19832			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=CLC14_HUMAN&rb=299&re=487&var=N461K	NA	getma.org/?cm=var&var=hg19,14,38723845,G,T&fts=all	N461K	--	--	1																																			1	1		benign(0.014)	p.N461K	NM_175060	NP_778230		deleterious_low_confidence(0.01)	1	CLC14_HUMAN	CLEC14A	HGNC	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)			1	1730	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		UPI000000CBD4	461			Cytoplasmic (Potential).		SNV	CLEC14A,missense_variant,p.Asn461Lys,ENST00000342213,NM_175060.2;	uc001wum.1	c.1383C>A	1730/2267	2	2			c.1383C>A						14	SNP	c.(1381-1383)AAC>AAA	24	24			ovary(3)|skin(1)	4	Broad	C-type lectin domain family 14, member A			38723845		0.607	ENSG00000176435	3436	g.chr14:38723845G>T		integral to membrane	sugar binding							361.333262	KEEP	61	56	0.521367521	70	81	61	56	0.521367521	361.65568	70	81	0.461224	1	0	0	0	0	1	0	0	0	--	--		0	T				135	GBM-14-0787-TP	p.N461K	G	TCACCCCATTGTTTGTGCAAT	NM_175060	NP_778230	38723845	Q86T13	CLC14_HUMAN	0	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	1730	-	T	T	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Missense_Mutation	461			Cytoplasmic (Potential).			
CLEC14A	0	broad.mit.edu	GRCh37	14	38724256	38724256	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-5951-01	TCGA-19-5951-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342213.2:c.972C>A	p.Asp324Glu	p.D324E	ENST00000342213	NM_175060.2	324	gaC/gaA	0			1			T	D/E	uc001wum.1	protein_coding	YES	CCDS9667.1			972/1473									ovary(3)|skin(1)	4	c.(970-972)GAC>GAA			hmmpanther:PTHR24838:SF258,hmmpanther:PTHR24838	C-type lectin domain family 14, member A				ENSP00000353013		1-Jan									COSM2156601	1-Jan	.		ENST00000342213	Transcript				integral to membrane	sugar binding	ENSG00000176435	g.chr14:38724256G>T	19832			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=CLC14_HUMAN&rb=299&re=487&var=D324E	NA	getma.org/?cm=var&var=hg19,14,38724256,G,T&fts=all	D324E	--	--	1																																			1	1		benign(0.002)	p.D324E	NM_175060	NP_778230		tolerated_low_confidence(0.84)	1	CLC14_HUMAN	CLEC14A	HGNC	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)			1	1319	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		UPI000000CBD4	324			Extracellular (Potential).		SNV	CLEC14A,missense_variant,p.Asp324Glu,ENST00000342213,NM_175060.2;	uc001wum.1	c.972C>A	1319/2267	2	2			c.972C>A						14	SNP	c.(970-972)GAC>GAA	35	35			ovary(3)|skin(1)	4	Broad	C-type lectin domain family 14, member A			38724256		0.602	ENSG00000176435	3436	g.chr14:38724256G>T		integral to membrane	sugar binding							253.222278	KEEP	54	37	0.593406593	51	57	54	37	0.593406593	253.289535	51	57	0.477707	1	0	0	0	0	1	0	0	0	--	--		0	T				171	GBM-19-5951-TP	p.D324E	G	CCAGCTTCTCGTCGACCCTGA	NM_175060	NP_778230	38724256	Q86T13	CLC14_HUMAN	0	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	1319	-	T	T	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Missense_Mutation	324			Extracellular (Potential).			
CLEC14A	0	broad.mit.edu	GRCh37	14	38724727	38724727	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342213.2:c.501C>T	p.Asn167=	p.N167=	ENST00000342213	NM_175060.2	167	aaC/aaT	0			1			A	N	uc001wum.1	protein_coding	YES	CCDS9667.1			501/1473									ovary(3)|skin(1)	4	c.(499-501)AAC>AAT			hmmpanther:PTHR24838:SF258,hmmpanther:PTHR24838,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436	C-type lectin domain family 14, member A				ENSP00000353013		1-Jan									COSM955643	1-Jan	.		ENST00000342213	Transcript				integral to membrane	sugar binding	ENSG00000176435	g.chr14:38724727G>A	19832			LOW								--	--	1																																			1	1			p.N167N	NM_175060	NP_778230			1	CLC14_HUMAN	CLEC14A	HGNC	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)			1	848	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		UPI000000CBD4	167			Extracellular (Potential).|C-type lectin.		SNV	CLEC14A,synonymous_variant,p.=,ENST00000342213,NM_175060.2;	uc001wum.1	c.501C>T	848/2267	2	2			c.501C>T						14	SNP	c.(499-501)AAC>AAT	43	43			ovary(3)|skin(1)	4	Broad	C-type lectin domain family 14, member A			38724727		0.577	ENSG00000176435	3436	g.chr14:38724727G>A		integral to membrane	sugar binding							33.96018	KEEP	6	9	-1	14	19	6	9	-1	35.047795	14	19	0.325	1	0	0	0	0	0	0	1	0	--	--		0	A				230	GBM-32-1979-TP	p.N167N	G	ACAGGTAGCCGTTGGCGCGCA	NM_175060	NP_778230	38724727	Q86T13	CLC14_HUMAN	0	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	848	-	A	A	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Silent	167			Extracellular (Potential).|C-type lectin.			
CLEC14A	161198		GRCh37	14	38724093	38724093	+	stop_gained	Nonsense_Mutation	SNP	T	T	A			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000342213.2:c.1135A>T	p.Lys379Ter	p.K379*	ENST00000342213	NM_175060.2	379	Aag/Tag	0																																																																																																																																																																																																																																												
CLEC14A	161198		GRCh37	14	38724649	38724649	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000342213.2:c.579C>T	p.Arg193=	p.R193=	ENST00000342213	NM_175060.2	193	cgC/cgT	0																																																																																																																																																																																																																																												
CLEC16A	0	broad.mit.edu	GRCh37	16	11118694	11118694	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-12-0821-01	TCGA-12-0821-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409790.1:c.1453G>C	p.Val485Leu	p.V485L	ENST00000409790	NM_015226.2	485	Gtg/Ctg	0			1			C	V/L	uc002dao.2	protein_coding	YES	CCDS45409.1			1453/3162								p.0?(1)	ovary(1)|central_nervous_system(1)	2	c.(1453-1455)GTG>CTG			hmmpanther:PTHR21481	C-type lectin domain family 16, member A				ENSP00000387122		13/24									COSM3402059,COSM3402060	13/24	.		ENST00000409790	Transcript						ENSG00000038532	g.chr16:11118694G>C	29013			MODERATE		0.855	low	getma.org/?cm=msa&ty=f&p=CL16A_HUMAN&rb=329&re=901&var=V485L	NA	getma.org/?cm=var&var=hg19,16,11118694,G,C&fts=all	V485L	--	--	1																																		CLEC16A_uc002dan.3_Missense_Mutation_p.V467L	1,1	1		benign(0.029)	p.V485L	NM_015226	NP_056041		tolerated(0.2)	1,1	CL16A_HUMAN	CLEC16A	HGNC	Q2KHT3	CL16A_HUMAN					13	1683	+			UPI0000253BAD	485					SNV	CLEC16A,missense_variant,p.Val485Leu,ENST00000409790,NM_015226.2;CLEC16A,missense_variant,p.Val467Leu,ENST00000409552,NM_001243403.1;CLEC16A,non_coding_transcript_exon_variant,,ENST00000465491,;CLEC16A,non_coding_transcript_exon_variant,,ENST00000476025,;CLEC16A,upstream_gene_variant,,ENST00000463459,;CLEC16A,non_coding_transcript_exon_variant,,ENST00000463896,;CLEC16A,non_coding_transcript_exon_variant,,ENST00000494853,;CLEC16A,non_coding_transcript_exon_variant,,ENST00000487189,;RPL7P46,upstream_gene_variant,,ENST00000425129,;	uc002dao.2	c.1453G>C	1683/6891	4	4			c.1453G>C						16	SNP	c.(1453-1455)GTG>CTG	33	33		p.0?(1)	ovary(1)|central_nervous_system(1)	2	Broad	C-type lectin domain family 16, member A			11118694		0.547	ENSG00000038532	3437	g.chr16:11118694G>C										1.997266	KEEP	3	0	-1	25	9	3	0	-1	7.825567	25	9	0.088235	1	0	0	0	0	1	0	0	0	--	--		0	C			CLEC16A_uc002dan.3_Missense_Mutation_p.V467L	123	GBM-12-0821-TP	p.V485L	G	CCTGGATATGGTGTACCACGC	NM_015226	NP_056041	11118694	Q2KHT3	CL16A_HUMAN	0			13	1683	+	C	C			Missense_Mutation	485						
CLEC1A	51267	broad.mit.edu	GRCh37	12	10241786	10241786	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0192-01	TCGA-06-0192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315330.4:c.151G>A	p.Ala51Thr	p.A51T	ENST00000315330	NM_016511.2	51	Gcc/Acc	0			1			T	A/T	uc001qxb.2	protein_coding	YES	CCDS8612.1			151/843									ovary(1)|central_nervous_system(1)	2	c.(151-153)GCC>ACC			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR22800:SF154,hmmpanther:PTHR22800	C-type lectin-like receptor-1				ENSP00000326407		6-Feb									COSM2150635	6-Feb	.		ENST00000315330	Transcript			cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	ENSG00000150048	g.chr12:10241786C>T	24355			MODERATE		2.315	medium	getma.org/?cm=msa&ty=f&p=CLC1A_HUMAN&rb=1&re=153&var=A51T	NA	getma.org/?cm=var&var=hg19,12,10241786,C,T&fts=all	A51T	--	--	1																																		CLEC1A_uc009zhf.2_5'UTR|CLEC1A_uc001qxc.2_5'UTR|CLEC1A_uc001qxd.2_Intron|CLEC1A_uc010sgx.1_Intron	1	1		benign(0.045)	p.A51T	NM_016511	NP_057595		deleterious(0.03)	1	CLC1A_HUMAN	CLEC1A	HGNC	Q8NC01	CLC1A_HUMAN			F8WCT4_HUMAN		2	235	-			UPI00000746EB	51			Cytoplasmic (Potential).		SNV	CLEC1A,missense_variant,p.Ala51Thr,ENST00000315330,NM_016511.2;CLEC1A,missense_variant,p.Ala51Thr,ENST00000414501,;CLEC1A,intron_variant,,ENST00000457018,;CLEC1A,intron_variant,,ENST00000420265,;RN7SKP161,downstream_gene_variant,,ENST00000411110,;CLEC1A,3_prime_UTR_variant,,ENST00000544104,;	uc001qxb.2	c.151G>A	214/2685	1	1			c.151G>A						12	SNP	c.(151-153)GCC>ACC	9	9			ovary(1)|central_nervous_system(1)	2	Broad	C-type lectin-like receptor-1			10241786		0.547	ENSG00000150048	3442	g.chr12:10241786C>T	cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity							96.821541	KEEP	17	25	-1	29	47	17	25	-1	98.621292	29	47	0.354167	1	0	0	0	0	1	0	0	0	--	--		0	T			CLEC1A_uc009zhf.2_5'UTR|CLEC1A_uc001qxc.2_5'UTR|CLEC1A_uc001qxd.2_Intron|CLEC1A_uc010sgx.1_Intron	44	GBM-06-0192-TP	p.A51T	C	AGGGTCAGGGCCACTGGTCGC	NM_016511	NP_057595	10241786	Q8NC01	CLC1A_HUMAN	0			2	235	-	T	T			Missense_Mutation	51			Cytoplasmic (Potential).			
CLEC1A	51267	broad.mit.edu	GRCh37	12	10224014	10224014	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs147882348	by1000genomes	TCGA-06-2563-01	TCGA-06-2563-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315330.4:c.761G>A	p.Arg254His	p.R254H	ENST00000315330	NM_016511.2	254	cGt/cAt	0		T:0	1	T:0		T	R/H	uc001qxb.2	protein_coding	YES	CCDS8612.1			761/843									ovary(1)|central_nervous_system(1)	2	c.(760-762)CGT>CAT			PROSITE_profiles:PS50041,hmmpanther:PTHR22800:SF154,hmmpanther:PTHR22800,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	C-type lectin-like receptor-1		T:0.001		ENSP00000326407	T:0	6-Jun	0.000132		0.000434	0.000116		6.00E-05		0.000363	rs147882348,COSM1358208	6-Jun	common_variant		ENST00000315330	Transcript		T:0.0002	cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	ENSG00000150048	g.chr12:10224014C>T	24355			MODERATE		1.21	low	getma.org/?cm=msa&ty=f&p=CLC1A_HUMAN&rb=154&re=259&var=R254H	getma.org/pdb.php?prot=CLC1A_HUMAN&from=154&to=259&var=R254H	getma.org/?cm=var&var=hg19,12,10224014,C,T&fts=all	R254H	--	--	1																																		CLEC1A_uc009zhf.2_Missense_Mutation_p.R166H|CLEC1A_uc001qxc.2_Missense_Mutation_p.R166H|CLEC1A_uc001qxd.2_Missense_Mutation_p.R211H|CLEC1A_uc010sgx.1_Missense_Mutation_p.R152H	0,1	1		benign(0.108)	p.R254H	NM_016511	NP_057595	T:0	tolerated(0.47)	0,1	CLC1A_HUMAN	CLEC1A	HGNC	Q8NC01	CLC1A_HUMAN			F8WCT4_HUMAN		6	845	-			UPI00000746EB	254			C-type lectin.|Extracellular (Potential).		SNV	CLEC1A,missense_variant,p.Arg254His,ENST00000315330,NM_016511.2;CLEC1A,missense_variant,p.Arg221His,ENST00000457018,;CLEC1A,missense_variant,p.Arg162His,ENST00000420265,;	uc001qxb.2	c.761G>A	824/2685	2	2			c.761G>A						12	SNP	c.(760-762)CGT>CAT	41	41			ovary(1)|central_nervous_system(1)	2	Broad	C-type lectin-like receptor-1			10224014		0.488	ENSG00000150048	3442	g.chr12:10224014C>T	cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity							313.603462	KEEP	58	55	-1	107	106	58	55	-1	318.846147	107	106	0.359736	1	0	0	0	0	1	0	0	0	--	--		0	T			CLEC1A_uc009zhf.2_Missense_Mutation_p.R166H|CLEC1A_uc001qxc.2_Missense_Mutation_p.R166H|CLEC1A_uc001qxd.2_Missense_Mutation_p.R211H|CLEC1A_uc010sgx.1_Missense_Mutation_p.R152H	86	GBM-06-2563-TP	p.R254H	C	ACAGACACAACGCTTCAATTC	NM_016511	NP_057595	10224014	Q8NC01	CLC1A_HUMAN	0			6	845	-	T	T			Missense_Mutation	254			C-type lectin.|Extracellular (Potential).			
CLEC3A	10143	broad.mit.edu	GRCh37	16	78064579	78064579	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0166-01	TCGA-06-0166-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299642.4:c.462C>T	p.Asn154=	p.N154=	ENST00000299642	NM_001244755.1	154	aaC/aaT	0			1			T	N	uc002ffh.3	protein_coding					435/594										0	c.(433-435)AAC>AAT			Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_profiles:PS50041,hmmpanther:PTHR22799,hmmpanther:PTHR22799:SF2,SMART_domains:SM00034,Superfamily_domains:SSF56436	C-type lectin domain family 3 member A				ENSP00000460682		3-Mar									COSM2150181,COSM3402488	3-Mar	.		ENST00000575655	Transcript			skeletal system development	extracellular region	sugar binding	ENSG00000166509	g.chr16:78064579C>T	2052			LOW								--	--	1																																			1,1				p.N145N	NM_005752	NP_005743			1,1	CLC3A_HUMAN	CLEC3A	HGNC	O75596	CLC3A_HUMAN					3	516	+			UPI000004A9A6	145			C-type lectin.		SNV	CLEC3A,synonymous_variant,p.=,ENST00000299642,NM_001244755.1;CLEC3A,synonymous_variant,p.=,ENST00000575655,NM_005752.4;RP11-281J9.2,intron_variant,,ENST00000563114,;CLEC3A,non_coding_transcript_exon_variant,,ENST00000565808,;CLEC3A,intron_variant,,ENST00000567430,;	uc002ffh.3	c.435C>T	516/1931	1	1			c.435C>T						16	SNP	c.(433-435)AAC>AAT	9	9				0	Broad	C-type lectin domain family 3 member A			78064579		0.527	ENSG00000166509	3447	g.chr16:78064579C>T	skeletal system development	extracellular region	sugar binding							159.70518	KEEP	25	42	-1	89	64	25	42	-1	165.616182	89	64	0.312169	1	0	0	0	0	0	0	1	0	--	--		0	T				31	GBM-06-0166-TP	p.N145N	C	TTGACGTCAACGGAATCGCTA	NM_005752	NP_005743	78064579	O75596	CLC3A_HUMAN	0			3	516	+	T	T			Silent	145			C-type lectin.			
CLEC3A	10143		GRCh37	16	78064695	78064695	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0240-01	TCGA-06-0240-01																				ENST00000299642.4:c.578G>A	p.Arg193His	p.R193H	ENST00000299642	NM_001244755.1	193	cGc/cAc	0																																																																																																																																																																																																																																												
CLEC3B	7123	broad.mit.edu	GRCh37	3	45077083	45077083	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-02-0003-01	TCGA-02-0003-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296130.4:c.276C>T	p.His92=	p.H92=	ENST00000296130	NM_003278.2	92	caC/caT	0			1			T	H	uc003cok.3	protein_coding	YES	CCDS2726.1			276/609										0	c.(274-276)CAC>CAT			Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_profiles:PS50041,hmmpanther:PTHR22799,hmmpanther:PTHR22799:SF3,SMART_domains:SM00034,Superfamily_domains:SSF56436	C-type lectin domain family 3, member B	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)			ENSP00000296130		3-Mar									COSM2148897	3-Mar	.		ENST00000296130	Transcript			skeletal system development	extracellular space	protein binding|sugar binding	ENSG00000163815	g.chr3:45077083C>T	11891			LOW								--	--	1																																		CLEC3B_uc003col.2_Silent_p.H50H	1	1			p.H92H	NM_003278	NP_003269			1	TETN_HUMAN	CLEC3B	HGNC	P05452	TETN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	E9PHK0_HUMAN		3	372	+			UPI000013E305	92			C-type lectin.		SNV	CLEC3B,synonymous_variant,p.=,ENST00000296130,NM_003278.2;CLEC3B,synonymous_variant,p.=,ENST00000428034,;RNU5B-3P,upstream_gene_variant,,ENST00000516601,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000481405,;CLEC3B,non_coding_transcript_exon_variant,,ENST00000490386,;	uc003cok.3	c.276C>T	456/936	1	1			c.276C>T						3	SNP	c.(274-276)CAC>CAT	3	3				0	Broad	C-type lectin domain family 3, member B		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	45077083		0.627	ENSG00000163815	3448	g.chr3:45077083C>T	skeletal system development	extracellular space	protein binding|sugar binding	GBM(139;1487 3263 30871)			GBM(139;1487 3263 30871)			114.427769	KEEP	15	27	-1	32	22	15	27	-1	114.61854	32	22	0.451613	1	0	0	0	0	0	0	1	0	--	--		0	T			CLEC3B_uc003col.2_Silent_p.H50H	1	GBM-02-0003-TP	p.H92H	C	AGACCTTCCACGAGGCCAGCG	NM_003278	NP_003269	45077083	P05452	TETN_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	3	372	+	T	T			Silent	92			C-type lectin.			
CLEC4C	170482	broad.mit.edu	GRCh37	12	7882275	7882280	+	inframe_deletion	In_Frame_Del	DEL	AACGGA	AACGGA	-			TCGA-06-2569-01	TCGA-06-2569-01	AACGGA	AACGGA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000542353.1:c.554_559del	p.Phe185_Arg186del	p.F185_R186del	ENST00000542353	NM_130441.2	185	tTCCGTTct/tct	0			1			-	FRS/S	uc001qtg.1	protein_coding		CCDS8583.1			554-559/642									ovary(2)|skin(1)	3	c.(553-561)TTCCGTTCT>TCT			Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_patterns:PS00615,PROSITE_profiles:PS50041,hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF204,SMART_domains:SM00034,Superfamily_domains:SSF56436	C-type lectin domain family 4, member C isoform				ENSP00000353500		6-Jun										6-Jun	.		ENST00000360345	Transcript			innate immune response	integral to membrane	sugar binding	ENSG00000198178	g.chr12:7882275_7882280delAACGGA	13258			MODERATE								--	--	1																																		CLEC4C_uc001qth.1_In_Frame_Del_p.FR185del|CLEC4C_uc001qti.1_In_Frame_Del_p.FR154del					p.FR185del	NM_130441	NP_569708				CLC4C_HUMAN	CLEC4C	HGNC	Q8WTT0	CLC4C_HUMAN		Kidney(36;0.0915)	H0YFH6_HUMAN		6	728_733	-			UPI000003C38D	185_186			Extracellular (Potential).|C-type lectin.		deletion	CLEC4C,inframe_deletion,p.Phe185_Arg186del,ENST00000542353,NM_130441.2;CLEC4C,inframe_deletion,p.Phe154_Arg155del,ENST00000540085,NM_203503.1;CLEC4C,inframe_deletion,p.Phe154_Arg155del,ENST00000354629,;CLEC4C,inframe_deletion,p.Phe185_Arg186del,ENST00000360345,;CLEC4C,3_prime_UTR_variant,,ENST00000537530,;CLEC4C,downstream_gene_variant,,ENST00000543765,;	uc001qtg.1	c.554_559delTCCGTT	728-733/970	5	5			c.554_559delTCCGTT						12	DEL	c.(553-561)TTCCGTTCT>TCT	63	63			ovary(2)|skin(1)	3	Broad	C-type lectin domain family 4, member C isoform			7882280		0.398	ENSG00000198178	3450	g.chr12:7882275_7882280delAACGGA	innate immune response	integral to membrane	sugar binding																				0.07	1	1	0	1	0	0	0	0	0	--	--		0	-			CLEC4C_uc001qth.1_In_Frame_Del_p.FR185del|CLEC4C_uc001qti.1_In_Frame_Del_p.FR154del	90	GBM-06-2569-TP	p.FR185del	AACGGA	TCTTCTGAAGAACGGAAATTTATTAT	NM_130441	NP_569708	7882275	Q8WTT0	CLC4C_HUMAN	0		Kidney(36;0.0915)	6	728_733	-	-	-			In_Frame_Del	185_186			Extracellular (Potential).|C-type lectin.			
CLEC4C	0	broad.mit.edu	GRCh37	12	7898972	7898972	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360345.3:c.79G>A	p.Val27Ile	p.V27I	ENST00000360345		27	Gta/Ata	0	T:0.0005	T:0	1	T:0.0014		T	V/I	uc001qtg.1	protein_coding		CCDS8583.1			79/642									ovary(2)|skin(1)	3	c.(79-81)GTA>ATA			hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF204,Transmembrane_helices:TMhelix	C-type lectin domain family 4, member C isoform		T:0	T:0.0001	ENSP00000353500	T:0	6-Feb	8.24E-05	0.000486	0.000175	0.000116		3.01E-05			rs370896266,COSM943675	6-Feb	common_variant		ENST00000360345	Transcript			innate immune response	integral to membrane	sugar binding	ENSG00000198178	g.chr12:7898972C>T	13258			MODERATE		-0.695	neutral	getma.org/?cm=msa&ty=f&p=CLC4C_HUMAN&rb=1&re=39&var=V27I	NA	getma.org/?cm=var&var=hg19,12,7898972,C,T&fts=all	V27I	--	--	1																																		CLEC4C_uc001qth.1_Missense_Mutation_p.V27I|CLEC4C_uc001qti.1_Intron	0,1			benign(0.001)	p.V27I	NM_130441	NP_569708	T:0	tolerated(1)	0,1	CLC4C_HUMAN	CLEC4C	HGNC	Q8WTT0	CLC4C_HUMAN		Kidney(36;0.0915)	H0YFH6_HUMAN		2	253	-			UPI000003C38D	27			Helical; Signal-anchor for type II membrane protein; (Potential).		SNV	CLEC4C,missense_variant,p.Val27Ile,ENST00000542353,NM_130441.2;CLEC4C,missense_variant,p.Val27Ile,ENST00000360345,;CLEC4C,missense_variant,p.Val24Ile,ENST00000543765,;CLEC4C,intron_variant,,ENST00000540085,NM_203503.1;CLEC4C,intron_variant,,ENST00000354629,;	uc001qtg.1	c.79G>A	253/970	2	2			c.79G>A						12	SNP	c.(79-81)GTA>ATA	35	35			ovary(2)|skin(1)	3	Broad	C-type lectin domain family 4, member C isoform			7898972		0.483	ENSG00000198178	3450	g.chr12:7898972C>T	innate immune response	integral to membrane	sugar binding							158.117684	KEEP	27	40	-1	36	42	27	40	-1	158.274954	36	42	0.46087	1	0	0	0	0	1	0	0	0	--	--		0	T			CLEC4C_uc001qth.1_Missense_Mutation_p.V27I|CLEC4C_uc001qti.1_Intron	265	GBM-76-4925-TP	p.V27I	C	AAGATGGATACGACTGCCATG	NM_130441	NP_569708	7898972	Q8WTT0	CLC4C_HUMAN	0		Kidney(36;0.0915)	2	253	-	T	T			Missense_Mutation	27			Helical; Signal-anchor for type II membrane protein; (Potential).			
CLEC4D	0	broad.mit.edu	GRCh37	12	8672917	8672917	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-2554-01	TCGA-14-2554-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299665.2:c.480G>A	p.Thr160=	p.T160=	ENST00000299665	NM_080387.4	160	acG/acA	0			1			A	T	uc001qun.2	protein_coding	YES	CCDS8593.1			480/648										0	c.(478-480)ACG>ACA			PROSITE_profiles:PS50041,hmmpanther:PTHR22802:SF11,hmmpanther:PTHR22802,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436	C-type lectin domain family 4, member D				ENSP00000299665		6-May	9.88E-05	9.62E-05				1.50E-05		0.000606	rs771336716,COSM1994647	6-May	common_variant		ENST00000299665	Transcript			innate immune response	integral to membrane	sugar binding	ENSG00000166527	g.chr12:8672917G>A	14554			LOW								--	--	1																																			0,1	1			p.T160T	NM_080387	NP_525126			0,1	CLC4D_HUMAN	CLEC4D	HGNC	Q8WXI8	CLC4D_HUMAN			A6NHA5_HUMAN		5	673	+	Lung SC(5;0.184)		UPI0000072EBB	160			C-type lectin.|Extracellular (Potential).		SNV	CLEC4D,synonymous_variant,p.=,ENST00000299665,NM_080387.4;CLEC4D,downstream_gene_variant,,ENST00000382064,;	uc001qun.2	c.480G>A	673/1936	2	2			c.480G>A						12	SNP	c.(478-480)ACG>ACA	44	44				0	Broad	C-type lectin domain family 4, member D			8672917		0.423	ENSG00000166527	3451	g.chr12:8672917G>A	innate immune response	integral to membrane	sugar binding							97.697933	KEEP	24	24	-1	57	74	24	24	-1	106.32186	57	74	0.25625	1	0	0	0	0	0	0	1	0	--	--		0	A				150	GBM-14-2554-TP	p.T160T	G	TGGACCAGACGCCATTTAACC	NM_080387	NP_525126	8672917	Q8WXI8	CLC4D_HUMAN	0			5	673	+	A	A	Lung SC(5;0.184)		Silent	160			C-type lectin.|Extracellular (Potential).			
CLEC4E	0	broad.mit.edu	GRCh37	12	8689778	8689778	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01	TCGA-28-5209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299663.3:c.305C>T	p.Ala102Val	p.A102V	ENST00000299663	NM_014358.2	102	gCg/gTg	0			1			A	A/V	uc001quo.1	protein_coding	YES	CCDS8594.1			305/660									central_nervous_system(1)	1	c.(304-306)GCG>GTG			PROSITE_profiles:PS50041,hmmpanther:PTHR22802:SF217,hmmpanther:PTHR22802,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436	C-type lectin domain family 4, member E				ENSP00000299663		6-Apr	7.41E-05			0.000809				0.000121	rs201571010,COSM3399162	6-Apr	common_variant		ENST00000299663	Transcript				integral to membrane	sugar binding	ENSG00000166523	g.chr12:8689778G>A	14555			MODERATE		0.665	neutral	getma.org/?cm=msa&ty=f&p=CLC4E_HUMAN&rb=97&re=207&var=A102V	getma.org/pdb.php?prot=CLC4E_HUMAN&from=97&to=207&var=A102V	getma.org/?cm=var&var=hg19,12,8689778,G,A&fts=all	A102V	--	--	1																																			0,1	1		benign(0.004)	p.A102V	NM_014358	NP_055173		tolerated(0.21)	0,1	CLC4E_HUMAN	CLEC4E	HGNC	Q9ULY5	CLC4E_HUMAN					4	470	-	Lung SC(5;0.184)		UPI0000037798	102			C-type lectin.|Extracellular (Potential).		SNV	CLEC4E,missense_variant,p.Ala102Val,ENST00000299663,NM_014358.2;CLEC4E,missense_variant,p.Ala42Val,ENST00000537698,;CLEC4E,intron_variant,,ENST00000545274,;CLEC4E,intron_variant,,ENST00000446457,;CLEC4E,intron_variant,,ENST00000450725,;CLEC4E,downstream_gene_variant,,ENST00000446809,;	uc001quo.1	c.305C>T	471/2159	2	2			c.305C>T						12	SNP	c.(304-306)GCG>GTG	24	24			central_nervous_system(1)	1	Broad	C-type lectin domain family 4, member E			8689778		0.458	ENSG00000166523	3452	g.chr12:8689778G>A		integral to membrane	sugar binding							219.288749	KEEP	38	41	-1	51	53	38	41	-1	219.943534	51	53	0.434286	1	0	0	0	0	1	0	0	0	--	--		0	A				218	GBM-28-5209-TP	p.A102V	G	TAAACTTAACGCCCAGGAAAT	NM_014358	NP_055173	8689778	Q9ULY5	CLC4E_HUMAN	0			4	470	-	A	A	Lung SC(5;0.184)		Missense_Mutation	102			C-type lectin.|Extracellular (Potential).			
CLEC4M	10332	broad.mit.edu	GRCh37	19	7831634	7831634	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01	TCGA-06-0124-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327325.5:c.877G>A	p.Val293Ile	p.V293I	ENST00000327325	NM_001144909.1	293	Gtc/Atc	0	A:0		1			A	V/I	uc002mih.2	protein_coding	YES	CCDS12187.1			877/1200									pancreas(1)	1	c.(808-810)GTC>ATC			Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_profiles:PS50041,hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF200,SMART_domains:SM00034,Superfamily_domains:SSF56436	C-type lectin domain family 4, member M isoform			A:0.0001	ENSP00000316228		7-May	2.47E-05			0.000116		1.50E-05		6.06E-05	rs371058590,COSM2149326	7-May	.		ENST00000327325	Transcript			cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	ENSG00000104938	g.chr19:7831634G>A	13523			MODERATE		1.135	low	getma.org/?cm=msa&ty=f&p=CLC4M_HUMAN&rb=285&re=391&var=V293I	getma.org/pdb.php?prot=CLC4M_HUMAN&from=285&to=391&var=V293I	getma.org/?cm=var&var=hg19,19,7831634,G,A&fts=all	V293I	--	--	1																																		CLEC4M_uc010xjv.1_3'UTR|CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc010xjw.1_Missense_Mutation_p.V226I|CLEC4M_uc010dvt.2_Missense_Mutation_p.V247I|CLEC4M_uc010dvs.2_Missense_Mutation_p.V269I|CLEC4M_uc010xjx.1_Missense_Mutation_p.V242I|CLEC4M_uc002mhz.2_Missense_Mutation_p.V201I|CLEC4M_uc002mic.2_Missense_Mutation_p.V265I|CLEC4M_uc002mia.2_Missense_Mutation_p.V157I	0,1	1		benign(0.025)	p.V270I	NM_001144910	NP_001138382		tolerated(0.56)	0,1	CLC4M_HUMAN	CLEC4M	HGNC	Q9H2X3	CLC4M_HUMAN					6	926	+			UPI0000073C48	293			Extracellular (Probable).|C-type lectin.		SNV	CLEC4M,missense_variant,p.Val293Ile,ENST00000327325,NM_001144909.1,NM_014257.4;CLEC4M,missense_variant,p.Val281Ile,ENST00000394122,;CLEC4M,missense_variant,p.Val271Ile,ENST00000248228,NM_001144910.1,NM_001144905.1;CLEC4M,missense_variant,p.Val293Ile,ENST00000357361,NM_001144908.1;CLEC4M,missense_variant,p.Val242Ile,ENST00000334806,NM_001144904.1;CLEC4M,missense_variant,p.Val226Ile,ENST00000359059,NM_001144906.1,NM_001144907.1;CLEC4M,missense_variant,p.Val265Ile,ENST00000596363,NM_001144911.1;CLEC4M,missense_variant,p.Val226Ile,ENST00000596707,;CLEC4M,missense_variant,p.Val265Ile,ENST00000595751,;CLEC4M,missense_variant,p.Val201Ile,ENST00000597522,;CLEC4M,missense_variant,p.Val157Ile,ENST00000595496,;CLEC4M,non_coding_transcript_exon_variant,,ENST00000601089,;CLEC4M,non_coding_transcript_exon_variant,,ENST00000598879,;CLEC4M,non_coding_transcript_exon_variant,,ENST00000599333,;CLEC4M,non_coding_transcript_exon_variant,,ENST00000602143,;	uc002mih.2	c.808G>A	995/1935	2	2			c.808G>A						19	SNP	c.(808-810)GTC>ATC	24	24			pancreas(1)	1	Broad	C-type lectin domain family 4, member M isoform			7831634		0.597	ENSG00000104938	3455	g.chr19:7831634G>A	cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding							108.776987	KEEP	26	26	-1	73	64	26	26	-1	117.012234	73	64	0.269006	1	0	0	0	0	1	0	0	0	--	--		0	A			CLEC4M_uc010xjv.1_3'UTR|CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc010xjw.1_Missense_Mutation_p.V226I|CLEC4M_uc010dvt.2_Missense_Mutation_p.V247I|CLEC4M_uc010dvs.2_Missense_Mutation_p.V269I|CLEC4M_uc010xjx.1_Missense_Mutation_p.V242I|CLEC4M_uc002mhz.2_Missense_Mutation_p.V201I|CLEC4M_uc002mic.2_Missense_Mutation_p.V265I|CLEC4M_uc002mia.2_Missense_Mutation_p.V157I	11	GBM-06-0124-TP	p.V270I	G	GCACGACTCCGTCACCGCCTG	NM_001144910	NP_001138382	7831634	Q9H2X3	CLC4M_HUMAN	0			6	926	+	A	A			Missense_Mutation	293			Extracellular (Probable).|C-type lectin.			
CLEC4M	0	broad.mit.edu	GRCh37	19	7832494	7832494	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-0688-01	TCGA-12-0688-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327325.5:c.1029C>T	p.Asp343=	p.D343=	ENST00000327325	NM_001144909.1	343	gaC/gaT	0	T:0		1			T	D	uc002mih.2	protein_coding	YES	CCDS12187.1			1029/1200									pancreas(1)	1	c.(958-960)GAC>GAT			Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_profiles:PS50041,hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF200,SMART_domains:SM00034,Superfamily_domains:SSF56436	C-type lectin domain family 4, member M isoform			T:0.0001	ENSP00000316228		7-Jun	1.65E-05		8.64E-05			1.50E-05			rs370711365,COSM2153892	7-Jun	.		ENST00000327325	Transcript			cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	ENSG00000104938	g.chr19:7832494C>T	13523			LOW								--	--	1																																		CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc010xjw.1_Silent_p.D276D|CLEC4M_uc010dvt.2_Silent_p.D297D|CLEC4M_uc010dvs.2_Silent_p.D319D|CLEC4M_uc010xjx.1_Silent_p.D292D|CLEC4M_uc002mhz.2_Intron|CLEC4M_uc002mic.2_Intron|CLEC4M_uc002mia.2_Silent_p.D207D	0,1	1			p.D320D	NM_001144910	NP_001138382			0,1	CLC4M_HUMAN	CLEC4M	HGNC	Q9H2X3	CLC4M_HUMAN					7	1078	+			UPI0000073C48	343			Extracellular (Probable).|C-type lectin.		SNV	CLEC4M,synonymous_variant,p.=,ENST00000327325,NM_001144909.1,NM_014257.4;CLEC4M,synonymous_variant,p.=,ENST00000394122,;CLEC4M,synonymous_variant,p.=,ENST00000248228,NM_001144910.1,NM_001144905.1;CLEC4M,synonymous_variant,p.=,ENST00000334806,NM_001144904.1;CLEC4M,synonymous_variant,p.=,ENST00000359059,NM_001144906.1,NM_001144907.1;CLEC4M,synonymous_variant,p.=,ENST00000596707,;CLEC4M,synonymous_variant,p.=,ENST00000595496,;CLEC4M,intron_variant,,ENST00000357361,NM_001144908.1;CLEC4M,intron_variant,,ENST00000596363,NM_001144911.1;CLEC4M,intron_variant,,ENST00000597522,;CLEC4M,downstream_gene_variant,,ENST00000595751,;CLEC4M,non_coding_transcript_exon_variant,,ENST00000601089,;CLEC4M,non_coding_transcript_exon_variant,,ENST00000602143,;CLEC4M,intron_variant,,ENST00000598879,;CLEC4M,intron_variant,,ENST00000599333,;	uc002mih.2	c.960C>T	1147/1935	2	2			c.960C>T						19	SNP	c.(958-960)GAC>GAT	29	29			pancreas(1)	1	Broad	C-type lectin domain family 4, member M isoform			7832494		0.562	ENSG00000104938	3455	g.chr19:7832494C>T	cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding							91.965644	KEEP	20	24	-1	76	79	20	24	-1	105.491644	76	79	0.219251	1	0	0	0	0	0	0	1	0	--	--		0	T			CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc010xjw.1_Silent_p.D276D|CLEC4M_uc010dvt.2_Silent_p.D297D|CLEC4M_uc010dvs.2_Silent_p.D319D|CLEC4M_uc010xjx.1_Silent_p.D292D|CLEC4M_uc002mhz.2_Intron|CLEC4M_uc002mic.2_Intron|CLEC4M_uc002mia.2_Silent_p.D207D	121	GBM-12-0688-TP	p.D320D	C	AATGGGTGGACGGCTCACCTC	NM_001144910	NP_001138382	7832494	Q9H2X3	CLC4M_HUMAN	0			7	1078	+	T	T			Silent	343			Extracellular (Probable).|C-type lectin.			
CLEC4M	0	broad.mit.edu	GRCh37	19	7833731	7833731	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2518-01	TCGA-27-2518-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327325.5:c.1057C>T	p.Arg353Trp	p.R353W	ENST00000327325	NM_001144909.1	353	Cgg/Tgg	0			1			T	R/W	uc002mih.2	protein_coding	YES	CCDS12187.1			1057/1200									pancreas(1)	1	c.(988-990)CGG>TGG			Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_profiles:PS50041,hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF200,SMART_domains:SM00034,Superfamily_domains:SSF56436	C-type lectin domain family 4, member M isoform				ENSP00000316228		7-Jul	2.47E-05	0.000192				1.50E-05			rs778660811,COSM2729581	7-Jul	.		ENST00000327325	Transcript			cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	ENSG00000104938	g.chr19:7833731C>T	13523			MODERATE								--	--	1																																		CLEC4M_uc010xjw.1_Missense_Mutation_p.R286W|CLEC4M_uc010dvt.2_Missense_Mutation_p.R307W|CLEC4M_uc010dvs.2_Missense_Mutation_p.R329W|CLEC4M_uc010xjx.1_Missense_Mutation_p.R302W|CLEC4M_uc002mhz.2_Missense_Mutation_p.A223V|CLEC4M_uc002mic.2_Missense_Mutation_p.A287V|CLEC4M_uc002mia.2_Missense_Mutation_p.R217W	0,1	1		probably_damaging(0.935)	p.R330W	NM_001144910	NP_001138382		deleterious(0)	0,1	CLC4M_HUMAN	CLEC4M	HGNC	Q9H2X3	CLC4M_HUMAN					8	1106	+			UPI0000073C48	353			Extracellular (Probable).|C-type lectin.		SNV	CLEC4M,missense_variant,p.Arg353Trp,ENST00000327325,NM_001144909.1,NM_014257.4;CLEC4M,missense_variant,p.Arg341Trp,ENST00000394122,;CLEC4M,missense_variant,p.Arg331Trp,ENST00000248228,NM_001144910.1,NM_001144905.1;CLEC4M,missense_variant,p.Ala315Val,ENST00000357361,NM_001144908.1;CLEC4M,missense_variant,p.Arg302Trp,ENST00000334806,NM_001144904.1;CLEC4M,missense_variant,p.Arg286Trp,ENST00000359059,NM_001144906.1,NM_001144907.1;CLEC4M,missense_variant,p.Ala287Val,ENST00000596363,NM_001144911.1;CLEC4M,missense_variant,p.Arg286Trp,ENST00000596707,;CLEC4M,missense_variant,p.Ala223Val,ENST00000597522,;CLEC4M,missense_variant,p.Arg217Trp,ENST00000595496,;CLEC4M,downstream_gene_variant,,ENST00000595751,;CLEC4M,non_coding_transcript_exon_variant,,ENST00000598879,;CLEC4M,non_coding_transcript_exon_variant,,ENST00000599333,;CLEC4M,non_coding_transcript_exon_variant,,ENST00000602143,;CLEC4M,downstream_gene_variant,,ENST00000601089,;	uc002mih.2	c.988C>T	1175/1935	2	2			c.988C>T						19	SNP	c.(988-990)CGG>TGG	39	39			pancreas(1)	1	Broad	C-type lectin domain family 4, member M isoform			7833731		0.498	ENSG00000104938	3455	g.chr19:7833731C>T	cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding							10.711611	KEEP	10	10	-1	82	91	10	10	-1	38.225684	82	91	0.102857	1	0	0	0	0	1	0	0	0	--	--		0	T			CLEC4M_uc010xjw.1_Missense_Mutation_p.R286W|CLEC4M_uc010dvt.2_Missense_Mutation_p.R307W|CLEC4M_uc010dvs.2_Missense_Mutation_p.R329W|CLEC4M_uc010xjx.1_Missense_Mutation_p.R302W|CLEC4M_uc002mhz.2_Missense_Mutation_p.A223V|CLEC4M_uc002mic.2_Missense_Mutation_p.A287V|CLEC4M_uc002mia.2_Missense_Mutation_p.R217W	198	GBM-27-2518-TP	p.R330W	C	CAGCTTCCAGCGGTACTGGAA	NM_001144910	NP_001138382	7833731	Q9H2X3	CLC4M_HUMAN	0			8	1106	+	T	T			Missense_Mutation	353			Extracellular (Probable).|C-type lectin.			
CLEC4M	10332		GRCh37	19	7833851	7833851	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000327325.5:c.1177G>A	p.Ala393Thr	p.A393T	ENST00000327325	NM_001144909.1	393	Gca/Aca	0																																																																																																																																																																																																																																												
CLEC7A	64581		GRCh37	12	10277922	10277922	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000304084.8:c.466C>G	p.Leu156Val	p.L156V	ENST00000304084	NM_197947.2	156	Cta/Gta	0																																																																																																																																																																																																																																												
CLECL1	160365	broad.mit.edu	GRCh37	12	9885637	9885637	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-06-5859-01	TCGA-06-5859-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327839.3:c.224del	p.Leu75Ter	p.L75*	ENST00000327839	NM_172004.3	75	tTg/tg	0			1			-	L/X	uc001qwj.2	protein_coding	YES	CCDS8603.1			224/504										0	c.(223-225)TTGfs			hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF132	type II transmembrane protein DCAL1				ENSP00000331766		2-Jan									COSM2153390	2-Jan	.		ENST00000327839	Transcript				integral to membrane|plasma membrane	sugar binding	ENSG00000184293	g.chr12:9885637delA	24462			HIGH								--	--	1																																			1	1			p.L75fs	NM_172004	NP_742001			1	CLCL1_HUMAN	CLECL1	HGNC	Q8IZS7	CLCL1_HUMAN					1	224	-			UPI00000740B2	75			Helical; Signal-anchor for type II membrane protein; (Potential).		deletion	CLECL1,frameshift_variant,p.Leu75Ter,ENST00000327839,NM_172004.3;CLECL1,frameshift_variant,p.Leu27Ter,ENST00000542530,;	uc001qwj.2	c.224delT	259/670	5	5			c.224delT						12	DEL	c.(223-225)TTGfs	57	57				0	Broad	type II transmembrane protein DCAL1			9885637		0.423	ENSG00000184293	3460	g.chr12:9885637delA		integral to membrane|plasma membrane	sugar binding																				0.2	1	1	0	1	0	0	0	0	0	--	--		0	-				103	GBM-06-5859-TP	p.L75fs	A	TGCACAGATCAAAAAGAGAGA	NM_172004	NP_742001	9885637	Q8IZS7	CLCL1_HUMAN	0			1	224	-	-	-			Frame_Shift_Del	75			Helical; Signal-anchor for type II membrane protein; (Potential).			
CLGN	1047		GRCh37	4	141313760	141313760	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000325617.5:c.1471del	p.Cys491ValfsTer6	p.C491Vfs*6	ENST00000325617	NM_004362.2	491	Tgt/gt	0																																																																																																																																																																																																																																												
CLIC4	25932	broad.mit.edu	GRCh37	1	25124266	25124266	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01	TCGA-06-0214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374379.4:c.106C>T	p.Pro36Ser	p.P36S	ENST00000374379	NM_013943.2	36	Ccc/Tcc	0			1			T	P/S	uc001bjo.2	protein_coding	YES	CCDS256.1			106/762										0	c.(106-108)CCC>TCC			hmmpanther:PTHR11260:SF185,hmmpanther:PTHR11260,Gene3D:3.40.30.10,Pfam_domain:PF13417,TIGRFAM_domain:TIGR00862,Superfamily_domains:SSF52833	chloride intracellular channel 4				ENSP00000363500		6-Feb									COSM3400632	6-Feb	.		ENST00000374379	Transcript			cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity	ENSG00000169504	g.chr1:25124266C>T	13518			MODERATE		3.215	medium	getma.org/?cm=msa&ty=f&p=CLIC4_HUMAN&rb=31&re=103&var=P36S	getma.org/pdb.php?prot=CLIC4_HUMAN&from=31&to=103&var=P36S	getma.org/?cm=var&var=hg19,1,25124266,C,T&fts=all	P36S	--	--	1																																		CLIC4_uc001bjn.2_RNA|CLIC4_uc001bjp.1_Intron	1	1		probably_damaging(1)	p.P36S	NM_013943	NP_039234		deleterious(0.02)	1	CLIC4_HUMAN	CLIC4	HGNC	Q9Y696	CLIC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)	Q6FIC5_HUMAN,B4DWC4_HUMAN		2	391	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	UPI0000127AC9	36			Required for insertion into the membrane (Probable).		SNV	CLIC4,missense_variant,p.Pro36Ser,ENST00000374379,NM_013943.2;CLIC4,non_coding_transcript_exon_variant,,ENST00000497755,;CLIC4,non_coding_transcript_exon_variant,,ENST00000489758,;CLIC4,missense_variant,p.Pro36Ser,ENST00000488683,;	uc001bjo.2	c.106C>T	303/4346	2	2			c.106C>T						1	SNP	c.(106-108)CCC>TCC	41	41				0	Broad	chloride intracellular channel 4			25124266		0.403	ENSG00000169504	3465	g.chr1:25124266C>T	cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity							87.10283	KEEP	19	19	-1	52	54	19	19	-1	92.549916	52	54	0.267857	1	0	0	0	0	1	0	0	0	--	--		0	T			CLIC4_uc001bjn.2_RNA|CLIC4_uc001bjp.1_Intron	50	GBM-06-0214-TP	p.P36S	C	AGGAAACTGCCCCTTTTCCCA	NM_013943	NP_039234	25124266	Q9Y696	CLIC4_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)	2	391	+	T	T		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	Missense_Mutation	36			Required for insertion into the membrane (Probable).			
CLIC5	53405	broad.mit.edu	GRCh37	6	45917082	45917082	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0211-01	TCGA-06-0211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000185206.6:c.687G>A	p.Thr229=	p.T229=	ENST00000185206	NM_001114086.1	229	acG/acA	0			1			T	T	uc003oxv.3	protein_coding	YES	CCDS47438.1			687/1233									ovary(1)|skin(1)	2	c.(685-687)ACG>ACA			hmmpanther:PTHR11260:SF152,hmmpanther:PTHR11260,TIGRFAM_domain:TIGR00862,Pfam_domain:PF13417,Gene3D:3.40.30.10,Superfamily_domains:SSF52833	chloride intracellular channel 5 isoform a				ENSP00000185206		6-Mar									COSM127652,COSM2150800,COSM3411145	6-Mar	.		ENST00000185206	Transcript	1		female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity	ENSG00000112782	g.chr6:45917082C>T	13517			LOW								--	--	1																																		CLIC5_uc003oxu.3_Silent_p.T70T|CLIC5_uc003oxx.2_Silent_p.T70T	1,1,1	1			p.T229T	NM_001114086	NP_001107558			1,1,1	CLIC5_HUMAN	CLIC5	HGNC	Q9NZA1	CLIC5_HUMAN					3	793	-			UPI000013C5ED	229					SNV	CLIC5,synonymous_variant,p.=,ENST00000185206,NM_001114086.1;CLIC5,synonymous_variant,p.=,ENST00000339561,NM_016929.4;CLIC5,synonymous_variant,p.=,ENST00000544153,NM_001256023.1;	uc003oxv.3	c.687G>A	840/2713	1	1			c.687G>A						6	SNP	c.(685-687)ACG>ACA	9	9			ovary(1)|skin(1)	2	Broad	chloride intracellular channel 5 isoform a			45917082		0.547	ENSG00000112782	3466	g.chr6:45917082C>T	female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity							276.597999	KEEP	48	64	-1	79	73	48	64	-1	277.363493	79	73	0.4375	1	0	0	0	0	0	0	1	0	--	--		0	T			CLIC5_uc003oxu.3_Silent_p.T70T|CLIC5_uc003oxx.2_Silent_p.T70T	48	GBM-06-0211-TP	p.T229T	C	AGGGCGGGTGCGTGCCGGGGG	NM_001114086	NP_001107558	45917082	Q9NZA1	CLIC5_HUMAN	0			3	793	-	T	T			Silent	229						
CLIC5	53405	broad.mit.edu	GRCh37	6	45882070	45882070	+	synonymous_variant	Silent	SNP	G	G	A	rs146052023		TCGA-06-5415-01	TCGA-06-5415-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000185206.6:c.960C>T	p.Asp320=	p.D320=	ENST00000185206	NM_001114086.1	320	gaC/gaT	0	A:0.0005		1			A	D	uc003oxv.3	protein_coding	YES	CCDS47438.1			960/1233									ovary(1)|skin(1)	2	c.(958-960)GAC>GAT			PROSITE_profiles:PS50405,hmmpanther:PTHR11260:SF152,hmmpanther:PTHR11260,TIGRFAM_domain:TIGR00862,Gene3D:1.20.1050.10,Superfamily_domains:SSF47616	chloride intracellular channel 5 isoform a			A:0.0001	ENSP00000185206		6-May	5.77E-05	9.61E-05	0.000432			1.50E-05			rs146052023,COSM2153220,COSM2153219,COSM3411143	6-May	common_variant		ENST00000185206	Transcript	1		female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity	ENSG00000112782	g.chr6:45882070G>A	13517			LOW								--	--	1																																		CLIC5_uc003oxu.3_Silent_p.D161D|CLIC5_uc003oxw.2_RNA|CLIC5_uc003oxx.2_Silent_p.D161D	0,1,1,1	1			p.D320D	NM_001114086	NP_001107558			0,1,1,1	CLIC5_HUMAN	CLIC5	HGNC	Q9NZA1	CLIC5_HUMAN					5	1066	-			UPI000013C5ED	320			GST C-terminal.		SNV	CLIC5,synonymous_variant,p.=,ENST00000185206,NM_001114086.1;CLIC5,synonymous_variant,p.=,ENST00000339561,NM_016929.4;CLIC5,synonymous_variant,p.=,ENST00000544153,NM_001256023.1;CLIC5,non_coding_transcript_exon_variant,,ENST00000486570,;CLIC5,non_coding_transcript_exon_variant,,ENST00000484572,;	uc003oxv.3	c.960C>T	1113/2713	2	2			c.960C>T						6	SNP	c.(958-960)GAC>GAT	33	33			ovary(1)|skin(1)	2	Broad	chloride intracellular channel 5 isoform a			45882070		0.537	ENSG00000112782	3466	g.chr6:45882070G>A	female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity							146.25143	KEEP	28	38	-1	65	49	28	38	-1	149.600865	65	49	0.342105	1	0	0	0	0	0	0	1	0	--	--		0	A			CLIC5_uc003oxu.3_Silent_p.D161D|CLIC5_uc003oxw.2_RNA|CLIC5_uc003oxx.2_Silent_p.D161D	98	GBM-06-5415-TP	p.D320D	G	AAGTGTTGGCGTCAATCTCCT	NM_001114086	NP_001107558	45882070	Q9NZA1	CLIC5_HUMAN	0			5	1066	-	A	A			Silent	320			GST C-terminal.			
CLIP1	0	broad.mit.edu	GRCh37	12	122803873	122803873	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01	TCGA-32-2495-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000540338.1:c.3272C>T	p.Ala1091Val	p.A1091V	ENST00000540338		1091	gCc/gTc	0			1			A	A/V	uc001ucg.1	protein_coding	YES	CCDS58285.1			3272/4317									ovary(2)|breast(1)	3	c.(3271-3273)GCC>GTC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18916,hmmpanther:PTHR18916:SF30,Low_complexity_(Seg):seg	restin isoform a				ENSP00000439093		17/25									COSM3398462,COSM3398463	17/25	.		ENST00000540338	Transcript	1		mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	ENSG00000130779	g.chr12:122803873G>A	10461			MODERATE		0.46	neutral	getma.org/?cm=msa&ty=f&p=CLIP1_HUMAN&rb=1080&re=1210&var=A1091V	NA	getma.org/?cm=var&var=hg19,12,122803873,G,A&fts=all	A1091V	--	--	1																																		CLIP1_uc001uch.1_Missense_Mutation_p.A1080V|CLIP1_uc001uci.1_Missense_Mutation_p.A1045V|CLIP1_uc001ucj.1_Missense_Mutation_p.A666V	1,1	1		benign(0.077)	p.A1091V	NM_002956	NP_002947		tolerated(0.2)	1,1	CLIP1_HUMAN	CLIP1	HGNC	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	F5H367_HUMAN,F5H270_HUMAN		17	3378	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		UPI0000E00D4E	1091			Potential.		SNV	CLIP1,missense_variant,p.Ala1080Val,ENST00000358808,NM_002956.2,NM_001247997.1;CLIP1,missense_variant,p.Ala1080Val,ENST00000302528,;CLIP1,missense_variant,p.Ala969Val,ENST00000361654,NM_198240.1;CLIP1,missense_variant,p.Ala1045Val,ENST00000537178,;CLIP1,missense_variant,p.Ala666Val,ENST00000545889,;CLIP1,missense_variant,p.Ala1091Val,ENST00000540338,;RP11-512M8.3,downstream_gene_variant,,ENST00000537123,;	uc001ucg.1	c.3272C>T	3314/4400	2	2			c.3272C>T						12	SNP	c.(3271-3273)GCC>GTC	33	33			ovary(2)|breast(1)	3	Broad	restin isoform a			122803873		0.478	ENSG00000130779	3469	g.chr12:122803873G>A	mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding							-13.447819	KEEP	1	3	-1	40	65	1	3	-1	6.498686	40	65	0.035294	1	0	0	0	0	1	0	0	0	--	--		0	A			CLIP1_uc001uch.1_Missense_Mutation_p.A1080V|CLIP1_uc001uci.1_Missense_Mutation_p.A1045V|CLIP1_uc001ucj.1_Missense_Mutation_p.A666V	237	GBM-32-2495-TP	p.A1091V	G	TATCTGCATGGCATCTTCCGC	NM_002956	NP_002947	122803873	P30622	CLIP1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	17	3378	-	A	A	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		Missense_Mutation	1091			Potential.			
CLIP1	6249		GRCh37	12	122825886	122825886	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000540338.1:c.1865T>A	p.Leu622Gln	p.L622Q	ENST00000540338		622	cTa/cAa	0																																																																																																																																																																																																																																												
CLIP2	0	broad.mit.edu	GRCh37	7	73790959	73790959	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01	TCGA-32-4208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000223398.6:c.2228G>C	p.Arg743Pro	p.R743P	ENST00000223398	NM_003388.4	743	cGg/cCg	0			1			C	R/P	uc003uam.2	protein_coding	YES	CCDS5569.1			2228/3141									skin(3)	3	c.(2227-2229)CGG>CCG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18916,hmmpanther:PTHR18916:SF10	CAP-GLY domain containing linker protein 2				ENSP00000223398		17-Oct									COSM3412284,COSM3412283	17-Oct	.		ENST00000223398	Transcript	1			microtubule associated complex		ENSG00000106665	g.chr7:73790959G>C	2586			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=CLIP2_HUMAN&rb=687&re=885&var=R743P	NA	getma.org/?cm=var&var=hg19,7,73790959,G,C&fts=all	R743P	--	--	1																																		CLIP2_uc003uan.2_Missense_Mutation_p.R708P|CLIP2_uc003uao.2_Missense_Mutation_p.R137P	1,1	1		benign(0.179)	p.R743P	NM_003388	NP_003379		tolerated(0.08)	1,1	CLIP2_HUMAN	CLIP2	HGNC	Q9UDT6	CLIP2_HUMAN			Q7Z5B7_HUMAN		10	2555	+			UPI000007061E	743			Potential.		SNV	CLIP2,missense_variant,p.Arg743Pro,ENST00000223398,NM_003388.4;CLIP2,missense_variant,p.Arg708Pro,ENST00000361545,NM_032421.2;CLIP2,missense_variant,p.Arg743Pro,ENST00000395060,;CLIP2,upstream_gene_variant,,ENST00000493166,;CLIP2,non_coding_transcript_exon_variant,,ENST00000487091,;CLIP2,upstream_gene_variant,,ENST00000482424,;	uc003uam.2	c.2228G>C	2555/5563	4	4			c.2228G>C						7	SNP	c.(2227-2229)CGG>CCG	36	36			skin(3)	3	Broad	CAP-GLY domain containing linker protein 2			73790959		0.657	ENSG00000106665	3470	g.chr7:73790959G>C		microtubule associated complex								-4.831023	KEEP	0	3	-1	37	32	0	3	-1	6.768936	37	32	0.054545	1	0	0	0	0	1	0	0	0	--	--		0	C			CLIP2_uc003uan.2_Missense_Mutation_p.R708P|CLIP2_uc003uao.2_Missense_Mutation_p.R137P	243	GBM-32-4208-TP	p.R743P	G	GTGGAGTACCGGGGCCAGGCG	NM_003388	NP_003379	73790959	Q9UDT6	CLIP2_HUMAN	0			10	2555	+	C	C			Missense_Mutation	743			Potential.			
CLIP2	0	broad.mit.edu	GRCh37	7	73791076	73791076	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4929-01	TCGA-76-4929-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000223398.6:c.2345G>A	p.Ser782Asn	p.S782N	ENST00000223398	NM_003388.4	782	aGt/aAt	0			1			A	S/N	uc003uam.2	protein_coding	YES	CCDS5569.1			2345/3141									skin(3)	3	c.(2344-2346)AGT>AAT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18916,hmmpanther:PTHR18916:SF10	CAP-GLY domain containing linker protein 2				ENSP00000223398		17-Oct									COSM3412286,COSM3412285	17-Oct	.		ENST00000223398	Transcript	1			microtubule associated complex		ENSG00000106665	g.chr7:73791076G>A	2586			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=CLIP2_HUMAN&rb=687&re=885&var=S782N	NA	getma.org/?cm=var&var=hg19,7,73791076,G,A&fts=all	S782N	--	--	1																																		CLIP2_uc003uan.2_Missense_Mutation_p.S747N|CLIP2_uc003uao.2_Missense_Mutation_p.S176N	1,1	1		benign(0.024)	p.S782N	NM_003388	NP_003379		tolerated(0.09)	1,1	CLIP2_HUMAN	CLIP2	HGNC	Q9UDT6	CLIP2_HUMAN			Q7Z5B7_HUMAN		10	2672	+			UPI000007061E	782			Potential.		SNV	CLIP2,missense_variant,p.Ser782Asn,ENST00000223398,NM_003388.4;CLIP2,missense_variant,p.Ser747Asn,ENST00000361545,NM_032421.2;CLIP2,missense_variant,p.Ser782Asn,ENST00000395060,;CLIP2,missense_variant,p.Ser18Asn,ENST00000493166,;CLIP2,non_coding_transcript_exon_variant,,ENST00000487091,;CLIP2,upstream_gene_variant,,ENST00000482424,;	uc003uam.2	c.2345G>A	2672/5563	2	2			c.2345G>A						7	SNP	c.(2344-2346)AGT>AAT	36	36			skin(3)	3	Broad	CAP-GLY domain containing linker protein 2			73791076		0.632	ENSG00000106665	3470	g.chr7:73791076G>A		microtubule associated complex								23.994963	KEEP	8	1	-1	9	6	8	1	-1	24.256028	9	6	0.380952	1	0	0	0	0	1	0	0	0	--	--		0	A			CLIP2_uc003uan.2_Missense_Mutation_p.S747N|CLIP2_uc003uao.2_Missense_Mutation_p.S176N	269	GBM-76-4929-TP	p.S782N	G	GAGGTCGAGAGTTTGCGGGAG	NM_003388	NP_003379	73791076	Q9UDT6	CLIP2_HUMAN	0			10	2672	+	A	A			Missense_Mutation	782			Potential.			
CLIP4	79745	broad.mit.edu	GRCh37	2	29386734	29386734	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-06-0877-01	TCGA-06-0877-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320081.5:c.1572C>G	p.Gly524=	p.G524=	ENST00000320081	NM_024692.4	524	ggC/ggG	0			1			G	G	uc002rmv.2	protein_coding	YES	CCDS1770.1			1572/2118									ovary(1)	1	c.(1570-1572)GGC>GGG			Superfamily_domains:SSF74924,SMART_domains:SM01052,Gene3D:2.30.30.190,Pfam_domain:PF01302,PROSITE_patterns:PS00845,hmmpanther:PTHR18916,hmmpanther:PTHR18916:SF32,PROSITE_profiles:PS50245	CAP-GLY domain containing linker protein family,				ENSP00000327009		13/16									COSM2152145	13/16	.		ENST00000320081	Transcript						ENSG00000115295	g.chr2:29386734C>G	26108			LOW								--	--	1																																		CLIP4_uc002rmu.2_Silent_p.G524G|CLIP4_uc002rmw.2_RNA	1	1			p.G524G	NM_024692	NP_078968			1	CLIP4_HUMAN	CLIP4	HGNC	Q8N3C7	CLIP4_HUMAN			Q53QT5_HUMAN,Q4ZFY2_HUMAN,E7EW06_HUMAN,C9IYE4_HUMAN,A8K6D0_HUMAN		13	1811	+	Acute lymphoblastic leukemia(172;0.155)		UPI000006F0E8	524			CAP-Gly 2.		SNV	CLIP4,synonymous_variant,p.=,ENST00000320081,NM_024692.4,NM_001287527.1;CLIP4,synonymous_variant,p.=,ENST00000404424,;CLIP4,synonymous_variant,p.=,ENST00000401605,NM_001287528.1;CLIP4,synonymous_variant,p.=,ENST00000401617,;CLIP4,3_prime_UTR_variant,,ENST00000456385,;CLIP4,3_prime_UTR_variant,,ENST00000415891,;CLIP4,non_coding_transcript_exon_variant,,ENST00000493551,;	uc002rmv.2	c.1572C>G	1827/4293	3	3			c.1572C>G						2	SNP	c.(1570-1572)GGC>GGG	4	4			ovary(1)	1	Broad	CAP-GLY domain containing linker protein family,			29386734		0.388	ENSG00000115295	3472	g.chr2:29386734C>G										372.440249	KEEP	65	47	-1	52	69	65	47	-1	372.488969	52	69	0.483568	1	0	0	0	0	0	0	1	0	--	--		0	G			CLIP4_uc002rmu.2_Silent_p.G524G|CLIP4_uc002rmw.2_RNA	73	GBM-06-0877-TP	p.G524G	C	AACCCCATGGCAAGAATGATG	NM_024692	NP_078968	29386734	Q8N3C7	CLIP4_HUMAN	0			13	1811	+	G	G	Acute lymphoblastic leukemia(172;0.155)		Silent	524			CAP-Gly 2.			
CLK4	0	broad.mit.edu	GRCh37	5	178040532	178040532	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-4208-01	TCGA-32-4208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316308.4:c.768G>A	p.Leu256=	p.L256=	ENST00000316308	NM_020666.2	256	ctG/ctA	0			1			T	L	uc003mjf.1	protein_coding	YES	CCDS4437.1			768/1446									ovary(1)	1	c.(766-768)CTG>CTA			Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24058:SF25,hmmpanther:PTHR24058,PROSITE_profiles:PS50011	CDC-like kinase 4				ENSP00000316948		13-Jul									COSM3410175,COSM3410176	13-Jul	.		ENST00000316308	Transcript				nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000113240	g.chr5:178040532C>T	13659			LOW								--	--	1																																		CLK4_uc003mjg.1_Silent_p.L220L|CLK4_uc010jku.1_Silent_p.L76L|CLK4_uc003mjh.1_Silent_p.L76L|CLK4_uc010jkv.1_RNA|CLK4_uc011dgg.1_Silent_p.L256L|CLK4_uc011dgh.1_Silent_p.L76L	1,1	1			p.L256L	NM_020666	NP_065717			1,1	CLK4_HUMAN	CLK4	HGNC	Q9HAZ1	CLK4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)	Q68D95_HUMAN		7	876	-	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	UPI000007065C	256			Protein kinase.		SNV	CLK4,synonymous_variant,p.=,ENST00000316308,NM_020666.2;CLK4,downstream_gene_variant,,ENST00000522749,;CLK4,3_prime_UTR_variant,,ENST00000521621,;CLK4,3_prime_UTR_variant,,ENST00000522136,;CLK4,non_coding_transcript_exon_variant,,ENST00000520878,;CLK4,non_coding_transcript_exon_variant,,ENST00000519583,;CLK4,non_coding_transcript_exon_variant,,ENST00000519132,;CLK4,downstream_gene_variant,,ENST00000520126,;CLK4,downstream_gene_variant,,ENST00000520909,;CLK4,downstream_gene_variant,,ENST00000520199,;	uc003mjf.1	c.768G>A	937/2568	2	2			c.768G>A						5	SNP	c.(766-768)CTG>CTA	35	35			ovary(1)	1	Broad	CDC-like kinase 4			178040532		0.328	ENSG00000113240	3476	g.chr5:178040532C>T		nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			146			146	30.94993	KEEP	10	9	-1	37	31	10	9	-1	37.048062	37	31	0.207792	1	0	0	0	0	0	0	1	0	--	--		0	T			CLK4_uc003mjg.1_Silent_p.L220L|CLK4_uc010jku.1_Silent_p.L76L|CLK4_uc003mjh.1_Silent_p.L76L|CLK4_uc010jkv.1_RNA|CLK4_uc011dgg.1_Silent_p.L256L|CLK4_uc011dgh.1_Silent_p.L76L	243	GBM-32-4208-TP	p.L256L	C	TTTGAAATGGCAGAAAGCTGT	NM_020666	NP_065717	178040532	Q9HAZ1	CLK4_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)	7	876	-	T	T	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Silent	256			Protein kinase.			
CLMN	79789	broad.mit.edu	GRCh37	14	95677055	95677055	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298912.4:c.770C>T	p.Ala257Val	p.A257V	ENST00000298912	NM_024734.3	257	gCc/gTc	0	A:0.0002		1			A	A/V	uc001yef.2	protein_coding	YES	CCDS9933.1			770/3009										0	c.(769-771)GCC>GTC			PROSITE_profiles:PS50021,hmmpanther:PTHR11915:SF223,hmmpanther:PTHR11915,Gene3D:1.10.418.10,Pfam_domain:PF00307,SMART_domains:SM00033,Superfamily_domains:SSF47576	calmin			A:0	ENSP00000298912		13-Jul	1.65E-05	9.61E-05				1.50E-05			rs374926969	13-Jul	.		ENST00000298912	Transcript				integral to membrane	actin binding	ENSG00000165959	g.chr14:95677055G>A	19972			MODERATE		0.28	neutral	getma.org/?cm=msa&ty=f&p=CLMN_HUMAN&rb=190&re=291&var=A257V	getma.org/pdb.php?prot=CLMN_HUMAN&from=190&to=291&var=A257V	getma.org/?cm=var&var=hg19,14,95677055,G,A&fts=all	A257V	--	--	1																																				1		benign(0.117)	p.A257V	NM_024734	NP_079010		tolerated(0.12)		CLMN_HUMAN	CLMN	HGNC	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	G3V5U3_HUMAN,G3V4C0_HUMAN,A0PJD0_HUMAN		7	886	-			UPI000006DB99	257			Actin-binding.|CH 2.		SNV	CLMN,missense_variant,p.Ala257Val,ENST00000298912,NM_024734.3;CLMN,downstream_gene_variant,,ENST00000555336,;CLMN,downstream_gene_variant,,ENST00000555615,;CLMN,non_coding_transcript_exon_variant,,ENST00000556454,;	uc001yef.2	c.770C>T	884/12747	1	1			c.770C>T						14	SNP	c.(769-771)GCC>GTC	62	62				0	Broad	calmin			95677055		0.418	ENSG00000165959	3479	g.chr14:95677055G>A		integral to membrane	actin binding							-41.120202	KEEP	3	1	-1	105	99	3	1	-1	6.725139	105	99	0.02139	1	0	0	0	0	1	0	0	0	--	--		0	A				18	GBM-06-0137-TP	p.A257V	G	GATGTGCAGGGCATCCTGTGC	NM_024734	NP_079010	95677055	Q96JQ2	CLMN_HUMAN	0		Epithelial(152;0.193)	7	886	-	A	A			Missense_Mutation	257			Actin-binding.|CH 2.			
CLMN	79789	broad.mit.edu	GRCh37	14	95669370	95669370	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0686-01	TCGA-06-0686-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298912.4:c.2316G>C	p.Glu772Asp	p.E772D	ENST00000298912	NM_024734.3	772	gaG/gaC	0			1			G	E/D	uc001yef.2	protein_coding	YES	CCDS9933.1			2316/3009										0	c.(2314-2316)GAG>GAC			Low_complexity_(Seg):seg,hmmpanther:PTHR11915:SF223,hmmpanther:PTHR11915	calmin				ENSP00000298912		13-Sep									COSM3401558	13-Sep	.		ENST00000298912	Transcript				integral to membrane	actin binding	ENSG00000165959	g.chr14:95669370C>G	19972			MODERATE		0.49	neutral	getma.org/?cm=msa&ty=f&p=CLMN_HUMAN&rb=433&re=1000&var=E772D	NA	getma.org/?cm=var&var=hg19,14,95669370,C,G&fts=all	E772D	--	--	1																																			1	1		benign(0.009)	p.E772D	NM_024734	NP_079010		tolerated(0.32)	1	CLMN_HUMAN	CLMN	HGNC	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	G3V5U3_HUMAN,G3V4C0_HUMAN,A0PJD0_HUMAN		9	2432	-			UPI000006DB99	772					SNV	CLMN,missense_variant,p.Glu772Asp,ENST00000298912,NM_024734.3;CLMN,non_coding_transcript_exon_variant,,ENST00000556454,;RP11-725G5.3,downstream_gene_variant,,ENST00000555482,;	uc001yef.2	c.2316G>C	2430/12747	3	3			c.2316G>C						14	SNP	c.(2314-2316)GAG>GAC	8	8				0	Broad	calmin			95669370		0.567	ENSG00000165959	3479	g.chr14:95669370C>G		integral to membrane	actin binding							-2.636119	KEEP	3	4	-1	55	36	3	4	-1	14.828083	55	36	0.074468	1	0	0	0	0	1	0	0	0	--	--		0	G				64	GBM-06-0686-TP	p.E772D	C	CATCGGCCTCCTCCTCCCTGG	NM_024734	NP_079010	95669370	Q96JQ2	CLMN_HUMAN	0		Epithelial(152;0.193)	9	2432	-	G	G			Missense_Mutation	772						
CLMN	0	broad.mit.edu	GRCh37	14	95677204	95677204	+	synonymous_variant	Silent	SNP	C	C	T	rs139868659		TCGA-28-5213-01	TCGA-28-5213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298912.4:c.621G>A	p.Ala207=	p.A207=	ENST00000298912	NM_024734.3	207	gcG/gcA	0	T:0.0002	T:0	1	T:0		T	A	uc001yef.2	protein_coding	YES	CCDS9933.1			621/3009										0	c.(619-621)GCG>GCA			PROSITE_profiles:PS50021,hmmpanther:PTHR11915:SF223,hmmpanther:PTHR11915,Gene3D:1.10.418.10,Pfam_domain:PF00307,SMART_domains:SM00033,Superfamily_domains:SSF47576	calmin		T:0	T:0.0007	ENSP00000298912	T:0.002	13-Jul	0.000148					0.000277			rs139868659,COSM3401559	13-Jul	.		ENST00000298912	Transcript		T:0.0004		integral to membrane	actin binding	ENSG00000165959	g.chr14:95677204C>T	19972			LOW								--	--	1																																			0,1	1			p.A207A	NM_024734	NP_079010	T:0		0,1	CLMN_HUMAN	CLMN	HGNC	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	G3V5U3_HUMAN,G3V4C0_HUMAN,A0PJD0_HUMAN		7	737	-			UPI000006DB99	207			Actin-binding.|CH 2.		SNV	CLMN,synonymous_variant,p.=,ENST00000298912,NM_024734.3;CLMN,downstream_gene_variant,,ENST00000555336,;CLMN,downstream_gene_variant,,ENST00000555615,;CLMN,upstream_gene_variant,,ENST00000556454,;	uc001yef.2	c.621G>A	735/12747	1	1			c.621G>A						14	SNP	c.(619-621)GCG>GCA	11	11				0	Broad	calmin			95677204		0.582	ENSG00000165959	3479	g.chr14:95677204C>T		integral to membrane	actin binding							-29.720427	KEEP	7	0	-1	125	151	7	0	-1	12.45504	125	151	0.038251	1	0	0	0	0	0	0	1	0	--	--		0	T				220	GBM-28-5213-TP	p.A207A	C	AGTCCTGCACCGCCACGCCAT	NM_024734	NP_079010	95677204	Q96JQ2	CLMN_HUMAN	0		Epithelial(152;0.193)	7	737	-	T	T			Silent	207			Actin-binding.|CH 2.			
CLMP	79827	broad.mit.edu	GRCh37	11	122944226	122944226	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0174-01	TCGA-06-0174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000448775.2:c.1078C>A	p.Pro360Thr	p.P360T	ENST00000448775	NM_024769.2	360	Ccc/Acc	0			1			T	P/T	uc001pyt.2	protein_coding	YES	CCDS8441.1			1078/1122										0	c.(1078-1080)CCC>ACC			hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF73	adipocyte-specific adhesion molecule precursor				ENSP00000405577		7-Jul									COSM3397496	7-Jul	.		ENST00000448775	Transcript	1			integral to membrane|tight junction		ENSG00000166250	g.chr11:122944226G>T	24039			MODERATE		1.96	medium	getma.org/?cm=msa&ty=f&p=CLMP_HUMAN&rb=226&re=373&var=P360T	NA	getma.org/?cm=var&var=hg19,11,122944226,G,T&fts=all	P360T	--	--	1																																			1	1		benign(0.021)	p.P360T	NM_024769	NP_079045		tolerated(0.22)	1	CLMP_HUMAN	CLMP	HGNC	Q9H6B4	CLMP_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.73e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)			7	1437	-		Breast(109;0.0025)|Lung NSC(97;0.0179)|all_lung(97;0.0182)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	UPI0000047815	360			Cytoplasmic (Potential).		SNV	CLMP,missense_variant,p.Pro360Thr,ENST00000448775,NM_024769.2;CLMP,non_coding_transcript_exon_variant,,ENST00000530371,;CLMP,downstream_gene_variant,,ENST00000527977,;	uc001pyt.2	c.1078C>A	1419/2610	2	2			c.1078C>A						11	SNP	c.(1078-1080)CCC>ACC	36	36				0	Broad	adipocyte-specific adhesion molecule precursor			122944226		0.537	ENSG00000166250	988	g.chr11:122944226G>T		integral to membrane|tight junction								439.864249	KEEP	95	89	0.516304348	126	120	95	89	0.516304348	441.865085	126	120	0.418129	1	0	0	0	0	1	0	0	0	--	--		0	T				37	GBM-06-0174-TP	p.P360T	G	ATCATGCTGGGTGTGGTTTCT	NM_024769	NP_079045	122944226	Q9H6B4	CLMP_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;8.73e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)	7	1437	-	T	T		Breast(109;0.0025)|Lung NSC(97;0.0179)|all_lung(97;0.0182)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	Missense_Mutation	360			Cytoplasmic (Potential).			
CLMP	79827		GRCh37	11	122945484	122945484	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000448775.2:c.747C>T	p.Phe249=	p.F249=	ENST00000448775	NM_024769.2	249	ttC/ttT	0																																																																																																																																																																																																																																												
CLN3	1201	broad.mit.edu	GRCh37	16	28489096	28489096	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01	TCGA-06-2567-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000568224.1:c.925G>A	p.Ala309Thr	p.A309T	ENST00000568224	NM_001286109.1	309	Gca/Aca	0			1			T	A/T	uc002dpo.2	protein_coding		CCDS10632.1			1159/1317										0	c.(1159-1161)GCA>ACA			Pfam_domain:PF02487,PIRSF_domain:PIRSF015974,Prints_domain:PR01315,hmmpanther:PTHR10981,hmmpanther:PTHR10981:SF0,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix	ceroid-lipofuscinosis, neuronal 3				ENSP00000353116		15/16	2.47E-05					4.52E-05			rs768614719,COSM3402234	15/16	.		ENST00000360019	Transcript	1		amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding	ENSG00000188603	g.chr16:28489096C>T	2074			MODERATE		2.72	medium	getma.org/?cm=msa&ty=f&p=CLN3_HUMAN&rb=37&re=438&var=A387T	NA	getma.org/?cm=var&var=hg19,16,28489096,C,T&fts=all	A387T	--	--	1																																		uc010vct.1_Intron|CLN3_uc002dpl.2_Missense_Mutation_p.A309T|CLN3_uc010vcu.1_Missense_Mutation_p.A287T|CLN3_uc002dpn.2_Missense_Mutation_p.A288T|CLN3_uc002dpm.2_Missense_Mutation_p.A333T|CLN3_uc010vcv.1_Missense_Mutation_p.A363T|CLN3_uc010byd.2_Intron|CLN3_uc002dpp.2_Missense_Mutation_p.A387T|CLN3_uc002dpt.1_Missense_Mutation_p.A287T|CLN3_uc002dpq.1_Missense_Mutation_p.A339T|CLN3_uc010bye.1_Missense_Mutation_p.A370T|CLN3_uc002dpr.1_RNA|CLN3_uc010byf.1_RNA|CLN3_uc002dps.1_Missense_Mutation_p.A260T|CLN3_uc002dpu.1_Missense_Mutation_p.A285T	0,1			probably_damaging(0.957)	p.A387T	NM_000086	NP_000077		deleterious(0)	0,1	CLN3_HUMAN	CLN3	HGNC	Q13286	CLN3_HUMAN			H3BPL0_HUMAN,B4DXV0_HUMAN,B4DFF3_HUMAN		14	1482	-			UPI00000000ED	387					SNV	CLN3,missense_variant,p.Ala387Thr,ENST00000569430,;CLN3,missense_variant,p.Ala387Thr,ENST00000360019,NM_001042432.1;CLN3,missense_variant,p.Ala387Thr,ENST00000359984,NM_000086.2;CLN3,missense_variant,p.Ala309Thr,ENST00000535392,;CLN3,missense_variant,p.Ala370Thr,ENST00000354630,;CLN3,missense_variant,p.Ala363Thr,ENST00000333496,NM_001286104.1;CLN3,missense_variant,p.Ala287Thr,ENST00000395653,NM_001286105.1;CLN3,missense_variant,p.Ala339Thr,ENST00000355477,;CLN3,missense_variant,p.Ala333Thr,ENST00000357857,NM_001286110.1;CLN3,missense_variant,p.Ala288Thr,ENST00000357806,;CLN3,missense_variant,p.Ala370Thr,ENST00000565316,;CLN3,intron_variant,,ENST00000567963,;CLN3,downstream_gene_variant,,ENST00000357076,;CLN3,downstream_gene_variant,,ENST00000568558,;CLN3,downstream_gene_variant,,ENST00000565778,;CLN3,downstream_gene_variant,,ENST00000568472,;CLN3,downstream_gene_variant,,ENST00000565047,;CLN3,missense_variant,p.Ala309Thr,ENST00000568224,NM_001286109.1;CLN3,missense_variant,p.Ala84Thr,ENST00000564091,;CLN3,3_prime_UTR_variant,,ENST00000565140,;CLN3,3_prime_UTR_variant,,ENST00000568422,;CLN3,3_prime_UTR_variant,,ENST00000569030,;CLN3,3_prime_UTR_variant,,ENST00000566057,;CLN3,non_coding_transcript_exon_variant,,ENST00000563874,;CLN3,non_coding_transcript_exon_variant,,ENST00000568452,;CLN3,non_coding_transcript_exon_variant,,ENST00000561689,;CLN3,non_coding_transcript_exon_variant,,ENST00000568076,;CLN3,non_coding_transcript_exon_variant,,ENST00000565354,;CLN3,downstream_gene_variant,,ENST00000566083,;CLN3,downstream_gene_variant,,ENST00000564574,;CLN3,downstream_gene_variant,,ENST00000566824,;CLN3,downstream_gene_variant,,ENST00000567495,;CLN3,downstream_gene_variant,,ENST00000568497,;	uc002dpo.2	c.1159G>A	1518/1913	2	2			c.1159G>A						16	SNP	c.(1159-1161)GCA>ACA	35	35				0	Broad	ceroid-lipofuscinosis, neuronal 3			28489096		0.612	ENSG00000188603	3480	g.chr16:28489096C>T	amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding							-53.060326	KEEP	1	4	-1	121	122	1	4	-1	6.777025	121	122	0.017544	1	0	0	0	0	1	0	0	0	--	--		0	T			uc010vct.1_Intron|CLN3_uc002dpl.2_Missense_Mutation_p.A309T|CLN3_uc010vcu.1_Missense_Mutation_p.A287T|CLN3_uc002dpn.2_Missense_Mutation_p.A288T|CLN3_uc002dpm.2_Missense_Mutation_p.A333T|CLN3_uc010vcv.1_Missense_Mutation_p.A363T|CLN3_uc010byd.2_Intron|CLN3_uc002dpp.2_Missense_Mutation_p.A387T|CLN3_uc002dpt.1_Missense_Mutation_p.A287T|CLN3_uc002dpq.1_Missense_Mutation_p.A339T|CLN3_uc010bye.1_Missense_Mutation_p.A370T|CLN3_uc002dpr.1_RNA|CLN3_uc010byf.1_RNA|CLN3_uc002dps.1_Missense_Mutation_p.A260T|CLN3_uc002dpu.1_Missense_Mutation_p.A285T	89	GBM-06-2567-TP	p.A387T	C	ACGTAGGCTGCGCCTCCCAGG	NM_000086	NP_000077	28489096	Q13286	CLN3_HUMAN	0			14	1482	-	T	T			Missense_Mutation	387						
CLN5	0	broad.mit.edu	GRCh37	13	77570066	77570066	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-12-3649-01	TCGA-12-3649-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377453.3:c.516A>G	p.Arg172=	p.R172=	ENST00000377453	NM_006493.2	172	agA/agG	0			1			G	R	uc001vkc.2	protein_coding	YES	CCDS9456.1			516/1224									ovary(1)	1	c.(514-516)AGA>AGG			Pfam_domain:PF15014,hmmpanther:PTHR15380,hmmpanther:PTHR15380:SF0	ceroid-lipofuscinosis, neuronal 5				ENSP00000366673		4-Mar									COSM3399449	4-Mar	.		ENST00000377453	Transcript	1		brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	ENSG00000102805	g.chr13:77570066A>G	2076			LOW								--	--	1																																			1	1			p.R172R	NM_006493	NP_006484			1	CLN5_HUMAN	CLN5	HGNC	O75503	CLN5_HUMAN		GBM - Glioblastoma multiforme(99;0.0503)	B4E1V6_HUMAN		3	544	+		Acute lymphoblastic leukemia(28;0.205)	UPI0000127AD8	123					SNV	CLN5,synonymous_variant,p.=,ENST00000377453,NM_006493.2;CLN5,non_coding_transcript_exon_variant,,ENST00000485938,;FBXL3,intron_variant,,ENST00000485797,;	uc001vkc.2	c.516A>G	1808/4064	3	3			c.516A>G						13	SNP	c.(514-516)AGA>AGG	10	10			ovary(1)	1	Broad	ceroid-lipofuscinosis, neuronal 5			77570066		0.413	ENSG00000102805	3481	g.chr13:77570066A>G	brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding							-38.119854	KEEP	3	0	-1	87	99	3	0	-1	6.483671	87	99	0.017647	1	0	0	0	0	0	0	1	0	--	--		0	G				125	GBM-12-3649-TP	p.R172R	A	TTGGATTCAGAAGTACATTAA	NM_006493	NP_006484	77570066	O75503	CLN5_HUMAN	0		GBM - Glioblastoma multiforme(99;0.0503)	3	544	+	G	G		Acute lymphoblastic leukemia(28;0.205)	Silent	123						
CLNK	116449	broad.mit.edu	GRCh37	4	10567771	10567771	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-2558-01	TCGA-06-2558-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000226951.6:c.154A>G	p.Arg52Gly	p.R52G	ENST00000226951	NM_052964.2	52	Aga/Gga	0			1			C	R/G	uc003gmo.3	protein_coding	YES	CCDS47024.1			154/1287									ovary(1)	1	c.(154-156)AGA>GGA			hmmpanther:PTHR14098,hmmpanther:PTHR14098:SF2	mast cell immunoreceptor signal transducer				ENSP00000226951		19-Jun									COSM3408963,COSM3408962	19-Jun	.		ENST00000226951	Transcript			immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity	ENSG00000109684	g.chr4:10567771T>C	17438			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=CLNK_HUMAN&rb=1&re=200&var=R52G	NA	getma.org/?cm=var&var=hg19,4,10567771,T,C&fts=all	R52G	--	--	1																																		CLNK_uc003gmp.2_Missense_Mutation_p.R10G	1,1	1		benign(0.025)	p.R52G	NM_052964	NP_443196		deleterious(0.04)	1,1	CLNK_HUMAN	CLNK	HGNC	Q7Z7G1	CLNK_HUMAN			D6RJB9_HUMAN		6	291	-			UPI000004A23A	52					SNV	CLNK,missense_variant,p.Arg52Gly,ENST00000226951,NM_052964.2;CLNK,missense_variant,p.Arg10Gly,ENST00000507719,;CLNK,missense_variant,p.Arg10Gly,ENST00000442825,;	uc003gmo.3	c.154A>G	394/5599	3	3			c.154A>G						4	SNP	c.(154-156)AGA>GGA	1	1			ovary(1)	1	Broad	mast cell immunoreceptor signal transducer			10567771		0.458	ENSG00000109684	3484	g.chr4:10567771T>C	immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity	GBM(87;402 1286 6949 13902 35851)			GBM(87;402 1286 6949 13902 35851)			449.682511	KEEP	71	80	-1	95	129	71	80	-1	452.206309	95	129	0.403846	1	0	0	0	0	1	0	0	0	--	--		0	C			CLNK_uc003gmp.2_Missense_Mutation_p.R10G	82	GBM-06-2558-TP	p.R52G	T	GCAAAGTTTCTTTCCTAAGCA	NM_052964	NP_443196	10567771	Q7Z7G1	CLNK_HUMAN	0			6	291	-	C	C			Missense_Mutation	52						
CLNK	0	broad.mit.edu	GRCh37	4	10522452	10522452	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-26-6173-01	TCGA-26-6173-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000226951.6:c.735T>C	p.Ser245=	p.S245=	ENST00000226951	NM_052964.2	245	tcT/tcC	0			1			G	S	uc003gmo.3	protein_coding	YES	CCDS47024.1			735/1287									ovary(1)	1	c.(733-735)TCT>TCC			hmmpanther:PTHR14098,hmmpanther:PTHR14098:SF2,Low_complexity_(Seg):seg	mast cell immunoreceptor signal transducer				ENSP00000226951		15/19									COSM3408959,COSM3408958	15/19	.		ENST00000226951	Transcript			immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity	ENSG00000109684	g.chr4:10522452A>G	17438			LOW								--	--	1																																			1,1	1			p.S245S	NM_052964	NP_443196			1,1	CLNK_HUMAN	CLNK	HGNC	Q7Z7G1	CLNK_HUMAN			D6RJB9_HUMAN		15	872	-			UPI000004A23A	245			Poly-Ser.		SNV	CLNK,synonymous_variant,p.=,ENST00000226951,NM_052964.2;CLNK,upstream_gene_variant,,ENST00000515667,;CLNK,downstream_gene_variant,,ENST00000442825,;	uc003gmo.3	c.735T>C	975/5599	3	3			c.735T>C						4	SNP	c.(733-735)TCT>TCC	15	15			ovary(1)	1	Broad	mast cell immunoreceptor signal transducer			10522452		0.363	ENSG00000109684	3484	g.chr4:10522452A>G	immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity	GBM(87;402 1286 6949 13902 35851)			GBM(87;402 1286 6949 13902 35851)			26.226431	KEEP	4	3	-1	3	4	4	3	-1	26.243177	3	4	0.538462	1	0	0	0	0	0	0	1	0	--	--		0	G				187	GBM-26-6173-TP	p.S245S	A	TCGTGAATGAAGAACTATAAG	NM_052964	NP_443196	10522452	Q7Z7G1	CLNK_HUMAN	0			15	872	-	G	G			Silent	245			Poly-Ser.			
CLOCK	9575	broad.mit.edu	GRCh37	4	56336906	56336906	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0649-01	TCGA-06-0649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309964.4:c.416C>A	p.Thr139Asn	p.T139N	ENST00000309964	NM_004898.3	139	aCt/aAt	0			1			T	T/N	uc003haz.1	protein_coding	YES	CCDS3500.1			416/2541									central_nervous_system(2)|ovary(1)	3	c.(415-417)ACT>AAT			Gene3D:3.30.450.20,Pfam_domain:PF00989,PROSITE_profiles:PS50112,hmmpanther:PTHR23042,hmmpanther:PTHR23042:SF2,SMART_domains:SM00091,Superfamily_domains:SSF55785	clock				ENSP00000308741		22-Jul	2.47E-05		8.66E-05			3.00E-05			rs766067893,COSM2151519	22-Jul	.		ENST00000309964	Transcript			circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	ENSG00000134852	g.chr4:56336906G>T	2082			MODERATE		1.73	low	getma.org/?cm=msa&ty=f&p=CLOCK_HUMAN&rb=109&re=188&var=T139N	getma.org/pdb.php?prot=CLOCK_HUMAN&from=109&to=188&var=T139N	getma.org/?cm=var&var=hg19,4,56336906,G,T&fts=all	T139N	--	--	1																																		CLOCK_uc003hba.1_Missense_Mutation_p.T139N	0,1	1		probably_damaging(0.998)	p.T139N	NM_004898	NP_004889		deleterious(0)	0,1	CLOCK_HUMAN	CLOCK	HGNC	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		C9JK03_HUMAN		9	1342	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		UPI0000031303	139			PAS 1.		SNV	CLOCK,missense_variant,p.Thr139Asn,ENST00000309964,NM_004898.3;CLOCK,missense_variant,p.Thr139Asn,ENST00000381322,NM_001267843.1;CLOCK,missense_variant,p.Thr139Asn,ENST00000513440,;CLOCK,missense_variant,p.Thr139Asn,ENST00000435527,;CLOCK,non_coding_transcript_exon_variant,,ENST00000506747,;CLOCK,downstream_gene_variant,,ENST00000508049,;	uc003haz.1	c.416C>A	667/10304	2	2			c.416C>A						4	SNP	c.(415-417)ACT>AAT	29	29			central_nervous_system(2)|ovary(1)	3	Broad	clock			56336906		0.299	ENSG00000134852	3486	g.chr4:56336906G>T	circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity							62.053952	KEEP	23	24	0.489361702	124	91	23	24	0.489361702	83.012768	124	91	0.181818	1	0	0	0	0	1	0	0	0	--	--		0	T			CLOCK_uc003hba.1_Missense_Mutation_p.T139N	62	GBM-06-0649-TP	p.T139N	G	AAGTAATGAAGTTACACTCTC	NM_004898	NP_004889	56336906	O15516	CLOCK_HUMAN	0	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		9	1342	-	T	T	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		Missense_Mutation	139			PAS 1.			
CLOCK	9575	broad.mit.edu	GRCh37	4	56304530	56304532	+	inframe_deletion	In_Frame_Del	DEL	CTG	CTG	-			TCGA-06-2559-01	TCGA-06-2559-01	CTG	CTG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309964.4:c.2278_2280del	p.Gln760del	p.Q760del	ENST00000309964	NM_004898.3	760	CAG/-	0			1			-	Q/-	uc003haz.1	protein_coding	YES	CCDS3500.1			2278-2280/2541									central_nervous_system(2)|ovary(1)	3	c.(2278-2280)CAGdel			hmmpanther:PTHR23042,hmmpanther:PTHR23042:SF2,Low_complexity_(Seg):seg	clock				ENSP00000308741		21/22									rs774776137	21/22	.		ENST00000309964	Transcript			circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	ENSG00000134852	g.chr4:56304530_56304532delCTG	2082			MODERATE								--	--	1																																		CLOCK_uc003hba.1_In_Frame_Del_p.Q760del|CLOCK_uc010igu.1_RNA		1			p.Q760del	NM_004898	NP_004889				CLOCK_HUMAN	CLOCK	HGNC	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		C9JK03_HUMAN		23	3204_3206	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		UPI0000031303	760			Gln-rich.		deletion	CLOCK,inframe_deletion,p.Gln760del,ENST00000309964,NM_004898.3;CLOCK,inframe_deletion,p.Gln760del,ENST00000381322,NM_001267843.1;CLOCK,inframe_deletion,p.Gln760del,ENST00000513440,;TMEM165,intron_variant,,ENST00000608091,;CLOCK,non_coding_transcript_exon_variant,,ENST00000511124,;TMEM165,intron_variant,,ENST00000506103,;CLOCK,downstream_gene_variant,,ENST00000479384,;	uc003haz.1	c.2278_2280delCAG	2529-2531/10304	5	5			c.2278_2280delCAG						4	DEL	c.(2278-2280)CAGdel	35	35			central_nervous_system(2)|ovary(1)	3	Broad	clock			56304532		0.315	ENSG00000134852	3486	g.chr4:56304530_56304532delCTG	circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity																				0.01	1	1	0	1	0	0	0	0	0	--	--		0	-			CLOCK_uc003hba.1_In_Frame_Del_p.Q760del|CLOCK_uc010igu.1_RNA	83	GBM-06-2559-TP	p.Q760del	CTG	cctgggagctctgctgctgctgc	NM_004898	NP_004889	56304530	O15516	CLOCK_HUMAN	0	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		23	3204_3206	-	-	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		In_Frame_Del	760			Gln-rich.			
CLOCK	0	broad.mit.edu	GRCh37	4	56336954	56336954	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-32-4213-01	TCGA-32-4213-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309964.4:c.368delT	p.Leu123Ter	p.L123*	ENST00000309964	NM_004898.3	123	tTa/ta	0			1			-	L/X	uc003haz.1	protein_coding	YES	CCDS3500.1			368/2541									central_nervous_system(2)|ovary(1)	3	c.(367-369)TTAfs			Gene3D:3.30.450.20,Pfam_domain:PF00989,Prints_domain:PR00785,PROSITE_profiles:PS50112,hmmpanther:PTHR23042,hmmpanther:PTHR23042:SF2,SMART_domains:SM00091,Superfamily_domains:SSF55785	clock				ENSP00000308741		22-Jul	0.000354	9.88E-05	8.71E-05	0.000232		0.000212		0.000123	rs750581214,COSM252979	22-Jul	.		ENST00000309964	Transcript			circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	ENSG00000134852	g.chr4:56336954delA	2082			HIGH								--	--	1																																		CLOCK_uc003hba.1_Frame_Shift_Del_p.L123fs	0,1	1			p.L123fs	NM_004898	NP_004889			0,1	CLOCK_HUMAN	CLOCK	HGNC	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		C9JK03_HUMAN		9	1294	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		UPI0000031303	123			PAS 1.		deletion	CLOCK,frameshift_variant,p.Leu123Ter,ENST00000309964,NM_004898.3;CLOCK,frameshift_variant,p.Leu123Ter,ENST00000381322,NM_001267843.1;CLOCK,frameshift_variant,p.Leu123Ter,ENST00000513440,;CLOCK,frameshift_variant,p.Leu123Ter,ENST00000435527,;CLOCK,non_coding_transcript_exon_variant,,ENST00000506747,;CLOCK,non_coding_transcript_exon_variant,,ENST00000508049,;	uc003haz.1	c.368delT	619/10304	5	5			c.368delT						4	DEL	c.(367-369)TTAfs	18	18			central_nervous_system(2)|ovary(1)	3	Broad	clock			56336954		0.289	ENSG00000134852	3486	g.chr4:56336954delA	circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity																				0.05	1	1	0	1	0	0	0	0	0	--	--		0	-			CLOCK_uc003hba.1_Frame_Shift_Del_p.L123fs	247	GBM-32-4213-TP	p.L123fs	A	CATGATTGCTAAAAAAAAACC	NM_004898	NP_004889	56336954	O15516	CLOCK_HUMAN	0	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		9	1294	-	-	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		Frame_Shift_Del	123			PAS 1.			
CLOCK	9575		GRCh37	4	56336954	56336954	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000309964.4:c.368del	p.Leu123Ter	p.L123*	ENST00000309964	NM_004898.3	123	tTa/ta	0																																																																																																																																																																																																																																												
CLPB	0	broad.mit.edu	GRCh37	11	72012979	72012979	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-15-1444-01	TCGA-15-1444-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294053.3:c.1287delC	p.Tyr430ThrfsTer10	p.Y430Tfs*10	ENST00000294053	NM_001258394.1	429	ggC/gg	0			1			-	G/X	uc001osj.2	protein_coding	YES	CCDS8215.1			1287/2124									pancreas(1)	1	c.(1285-1287)GGCfs			hmmpanther:PTHR11638,Pfam_domain:PF07724,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540,Prints_domain:PR00300	caseinolytic peptidase B				ENSP00000294053		17-Dec										17-Dec	.		ENST00000294053	Transcript	1		cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding	ENSG00000162129	g.chr11:72012979delG	30664			HIGH								--	--	1																																		CLPB_uc010rqx.1_Frame_Shift_Del_p.G384fs|CLPB_uc010rqy.1_Frame_Shift_Del_p.G370fs|CLPB_uc001osk.2_Frame_Shift_Del_p.G399fs|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Frame_Shift_Del_p.G228fs|CLPB_uc001osi.2_Frame_Shift_Del_p.G37fs		1			p.G429fs	NM_030813	NP_110440				CLPB_HUMAN	CLPB	HGNC	Q9H078	CLPB_HUMAN			F5H392_HUMAN		12	1337	-			UPI00001359D5	429					deletion	CLPB,frameshift_variant,p.Tyr430ThrfsTer10,ENST00000294053,NM_001258394.1,NM_030813.4;CLPB,frameshift_variant,p.Tyr400ThrfsTer10,ENST00000538039,NM_001258392.1;CLPB,frameshift_variant,p.Tyr385ThrfsTer10,ENST00000437826,;CLPB,frameshift_variant,p.Tyr435ThrfsTer10,ENST00000535990,;CLPB,frameshift_variant,p.Tyr229ThrfsTer10,ENST00000543042,;CLPB,frameshift_variant,p.Tyr371ThrfsTer10,ENST00000340729,NM_001258393.1;CLPB,frameshift_variant,p.Tyr38ThrfsTer10,ENST00000538021,;CLPB,frameshift_variant,p.Tyr208ThrfsTer10,ENST00000544382,;AP000593.7,upstream_gene_variant,,ENST00000546065,;CLPB,frameshift_variant,p.Tyr400ThrfsTer10,ENST00000535477,;	uc001osj.2	c.1287delC	1461/3240	5	5			c.1287delC						11	DEL	c.(1285-1287)GGCfs	25	25			pancreas(1)	1	Broad	caseinolytic peptidase B			72012979		0.522	ENSG00000162129	3488	g.chr11:72012979delG	cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding																				0.03	1	1	0	1	0	0	0	0	0	--	--		0	-			CLPB_uc010rqx.1_Frame_Shift_Del_p.G384fs|CLPB_uc010rqy.1_Frame_Shift_Del_p.G370fs|CLPB_uc001osk.2_Frame_Shift_Del_p.G399fs|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Frame_Shift_Del_p.G228fs|CLPB_uc001osi.2_Frame_Shift_Del_p.G37fs	154	GBM-15-1444-TP	p.G429fs	G	GGCCAACGTAGCCTGGTGGAG	NM_030813	NP_110440	72012979	Q9H078	CLPB_HUMAN	0			12	1337	-	-	-			Frame_Shift_Del	429						
CLPB	0	broad.mit.edu	GRCh37	11	72114088	72114088	+	stop_gained	Nonsense_Mutation	SNP	G	G	C			TCGA-19-5952-01	TCGA-19-5952-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294053.3:c.464C>G	p.Ser155Ter	p.S155*	ENST00000294053	NM_001258394.1	155	tCa/tGa	0			1			C	S/*	uc001osj.2	protein_coding	YES	CCDS8215.1			464/2124									pancreas(1)	1	c.(463-465)TCA>TGA			PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR11638,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	caseinolytic peptidase B				ENSP00000294053		17-Mar									COSM2156698	17-Mar	.		ENST00000294053	Transcript	1		cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding	ENSG00000162129	g.chr11:72114088G>C	30664			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,11,72114088,G,C&fts=all	S155*	--	--	1																																		CLPB_uc010rqx.1_Nonsense_Mutation_p.S110*|CLPB_uc010rqy.1_Intron|CLPB_uc001osk.2_Nonsense_Mutation_p.S155*|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Intron	1	1			p.S155*	NM_030813	NP_110440			1	CLPB_HUMAN	CLPB	HGNC	Q9H078	CLPB_HUMAN			F5H392_HUMAN		3	514	-			UPI00001359D5	155			ANK 1.		SNV	CLPB,stop_gained,p.Ser155Ter,ENST00000294053,NM_001258394.1,NM_030813.4;CLPB,stop_gained,p.Ser155Ter,ENST00000538039,NM_001258392.1;CLPB,stop_gained,p.Ser110Ter,ENST00000437826,;CLPB,stop_gained,p.Ser160Ter,ENST00000535990,;CLPB,stop_gained,p.Ser51Ter,ENST00000445069,;CLPB,stop_gained,p.Ser9Ter,ENST00000544683,;CLPB,stop_gained,p.Ser9Ter,ENST00000539148,;CLPB,splice_region_variant,,ENST00000543042,;CLPB,intron_variant,,ENST00000340729,NM_001258393.1;CLPB,stop_gained,p.Ser155Ter,ENST00000535477,;	uc001osj.2	c.464C>G	638/3240	5	3			c.464C>G						11	SNP	c.(463-465)TCA>TGA	6	6			pancreas(1)	1	Broad	caseinolytic peptidase B			72114088		0.458	ENSG00000162129	3488	g.chr11:72114088G>C	cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding							91.790314	KEEP	17	13	-1	29	48	17	13	-1	95.451806	29	48	0.290323	1	0	0	0	0	0	1	0	0	--	--		0	C			CLPB_uc010rqx.1_Nonsense_Mutation_p.S110*|CLPB_uc010rqy.1_Intron|CLPB_uc001osk.2_Nonsense_Mutation_p.S155*|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Intron	172	GBM-19-5952-TP	p.S155*	G	TGCACCTTCTGACAACAGCCT	NM_030813	NP_110440	72114088	Q9H078	CLPB_HUMAN	0			3	514	-	C	C			Nonsense_Mutation	155			ANK 1.			
CLPB	81570		GRCh37	11	72005108	72005108	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000294053.3:c.1833C>T	p.Asp611=	p.D611=	ENST00000294053	NM_001258394.1	611	gaC/gaT	0																																																																																																																																																																																																																																												
CLPP	8192	broad.mit.edu	GRCh37	19	6366351	6366351	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01	TCGA-06-2563-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245816.4:c.638C>T	p.Thr213Ile	p.T213I	ENST00000245816	NM_006012.2	213	aCc/aTc	0			1			T	T/I	uc002mem.1	protein_coding	YES	CCDS12162.1			638/834									ovary(1)	1	c.(637-639)ACC>ATC			Gene3D:3.90.226.10,HAMAP:MF_00444,Pfam_domain:PF00574,hmmpanther:PTHR10381,hmmpanther:PTHR10381:SF11,Superfamily_domains:SSF52096	caseinolytic peptidase, ATP-dependent,				ENSP00000245816		6-May									COSM2152910	6-May	.		ENST00000245816	Transcript	1		proteolysis	mitochondrial matrix	ATP binding|protein binding|serine-type endopeptidase activity	ENSG00000125656	g.chr19:6366351C>T	2084			MODERATE		3.71	high	getma.org/?cm=msa&ty=f&p=CLPP_HUMAN&rb=67&re=248&var=T213I	getma.org/pdb.php?prot=CLPP_HUMAN&from=67&to=248&var=T213I	getma.org/?cm=var&var=hg19,19,6366351,C,T&fts=all	T213I	--	--	1																																		CLPP_uc002men.1_Missense_Mutation_p.T15I	1	1		probably_damaging(1)	p.T213I	NM_006012	NP_006003		deleterious(0)	1	CLPP_HUMAN	CLPP	HGNC	Q16740	CLPP_HUMAN			M0R208_HUMAN,A4UCS4_HUMAN		5	761	+			UPI0000000C4D	213					SNV	CLPP,missense_variant,p.Thr213Ile,ENST00000245816,NM_006012.2;CLPP,missense_variant,p.Thr126Ile,ENST00000596149,;CLPP,missense_variant,p.Thr150Ile,ENST00000597326,;CLPP,3_prime_UTR_variant,,ENST00000596605,;CTB-180A7.3,upstream_gene_variant,,ENST00000595644,;CLPP,non_coding_transcript_exon_variant,,ENST00000596070,;CLPP,downstream_gene_variant,,ENST00000594780,;	uc002mem.1	c.638C>T	761/1155	2	2			c.638C>T						19	SNP	c.(637-639)ACC>ATC	35	35			ovary(1)	1	Broad	caseinolytic peptidase, ATP-dependent,			6366351		0.557	ENSG00000125656	3489	g.chr19:6366351C>T	proteolysis	mitochondrial matrix	ATP binding|protein binding|serine-type endopeptidase activity							24.927498	KEEP	3	10	-1	16	23	3	10	-1	27.930731	16	23	0.227273	1	0	0	0	0	1	0	0	0	--	--		0	T			CLPP_uc002men.1_Missense_Mutation_p.T15I	86	GBM-06-2563-TP	p.T213I	C	GCCAAGCACACCAAACAGAGC	NM_006012	NP_006003	6366351	Q16740	CLPP_HUMAN	0			5	761	+	T	T			Missense_Mutation	213						
CLPSL1	0	broad.mit.edu	GRCh37	6	35754829	35754829	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01	TCGA-26-6174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373861.5:c.154C>T	p.Arg52Cys	p.R52C	ENST00000373861		52	Cgt/Tgt	0			1			T	R/C	uc003old.3	protein_coding	YES	CCDS43456.1			154/366									skin(1)	1	c.(154-156)CGT>TGT			PROSITE_profiles:PS51342,hmmpanther:PTHR10041,hmmpanther:PTHR10041:SF1,Pfam_domain:PF12809,Gene3D:2.10.80.10,SMART_domains:SM00023,Prints_domain:PR00128	hypothetical protein LOC340204 precursor				ENSP00000362968		3-Feb	0.000257			0.00567		2.54E-05		9.22E-05	rs771559201,COSM3411032	3-Feb	common_variant		ENST00000373861	Transcript			digestion|lipid catabolic process	extracellular region	enzyme activator activity	ENSG00000204140	g.chr6:35754829C>T	21251			MODERATE		1.495	low	getma.org/?cm=msa&ty=f&p=COLL1_HUMAN&rb=1&re=121&var=R52C	getma.org/pdb.php?prot=COLL1_HUMAN&from=1&to=121&var=R52C	getma.org/?cm=var&var=hg19,6,35754829,C,T&fts=all	R52C	--	--	1																																			0,1	1		possibly_damaging(0.523)	p.R52C	NM_001010886	NP_001010886		deleterious(0)	0,1	COLL1_HUMAN	CLPSL1	HGNC	A2RUU4	CF127_HUMAN			F6TG72_HUMAN		2	211	+			UPI000015EE7B	52					SNV	CLPSL1,missense_variant,p.Arg52Cys,ENST00000373861,;CLPSL1,missense_variant,p.Arg51Cys,ENST00000542261,NM_001010886.3;CLPSL1,missense_variant,p.Arg5Cys,ENST00000428710,;	uc003old.3	c.154C>T	248/602	2	2			c.154C>T						6	SNP	c.(154-156)CGT>TGT	22	22			skin(1)	1	Broad	hypothetical protein LOC340204 precursor			35754829		0.672	ENSG00000204140	2279	g.chr6:35754829C>T	digestion|lipid catabolic process	extracellular region	enzyme activator activity							3.495802	KEEP	1	3	-1	14	20	1	3	-1	8.612413	14	20	0.114286	1	0	0	0	0	1	0	0	0	--	--		0	T				188	GBM-26-6174-TP	p.R52C	C	CTGCTGCCAACGTGCTCCAGA	NM_001010886	NP_001010886	35754829	A2RUU4	CF127_HUMAN	0			2	211	+	T	T			Missense_Mutation	52						
CLPSL1	0	broad.mit.edu	GRCh37	6	35754859	35754859	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373861.5:c.184G>A	p.Ala62Thr	p.A62T	ENST00000373861		62	Gcg/Acg	0			1			A	A/T	uc003old.3	protein_coding	YES	CCDS43456.1			184/366									skin(1)	1	c.(184-186)GCG>ACG			PROSITE_profiles:PS51342,hmmpanther:PTHR10041,hmmpanther:PTHR10041:SF1,Pfam_domain:PF12809,Gene3D:2.10.80.10,SMART_domains:SM00023,Prints_domain:PR00128	hypothetical protein LOC340204 precursor				ENSP00000362968		3-Feb									COSM2157460	3-Feb	.		ENST00000373861	Transcript			digestion|lipid catabolic process	extracellular region	enzyme activator activity	ENSG00000204140	g.chr6:35754859G>A	21251			MODERATE		0.44	neutral	getma.org/?cm=msa&ty=f&p=COLL1_HUMAN&rb=1&re=121&var=A62T	getma.org/pdb.php?prot=COLL1_HUMAN&from=1&to=121&var=A62T	getma.org/?cm=var&var=hg19,6,35754859,G,A&fts=all	A62T	--	--	1																																			1	1		benign(0.005)	p.A62T	NM_001010886	NP_001010886		tolerated(0.52)	1	COLL1_HUMAN	CLPSL1	HGNC	A2RUU4	CF127_HUMAN			F6TG72_HUMAN		2	241	+			UPI000015EE7B	62					SNV	CLPSL1,missense_variant,p.Ala62Thr,ENST00000373861,;CLPSL1,missense_variant,p.Ala61Thr,ENST00000542261,NM_001010886.3;CLPSL1,missense_variant,p.Ala15Thr,ENST00000428710,;	uc003old.3	c.184G>A	278/602	1	1			c.184G>A						6	SNP	c.(184-186)GCG>ACG	49	49			skin(1)	1	Broad	hypothetical protein LOC340204 precursor			35754859		0.662	ENSG00000204140	2279	g.chr6:35754859G>A	digestion|lipid catabolic process	extracellular region	enzyme activator activity							14.467842	KEEP	2	2	-1	0	0	2	2	-1	14.407157	0	0	1	1	0	0	0	0	1	0	0	0	--	--		0	A				265	GBM-76-4925-TP	p.A62T	G	GTCGCACTGCGCGGAGAAGGG	NM_001010886	NP_001010886	35754859	A2RUU4	CF127_HUMAN	0			2	241	+	A	A			Missense_Mutation	62						
CLRN3	119467		GRCh37	10	129682096	129682096	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000368671.3:c.273G>A	p.Ser91=	p.S91=	ENST00000368671	NM_152311.3	91	tcG/tcA	0																																																																																																																																																																																																																																												
CLSPN	63967	broad.mit.edu	GRCh37	1	36228771	36228775	+	frameshift_variant	Frame_Shift_Del	DEL	TTTAC	TTTAC	-			TCGA-06-0876-01	TCGA-06-0876-01	TTTAC	TTTAC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318121.3:c.730_734del	p.Val244LysfsTer17	p.V244Kfs*17	ENST00000318121	NM_022111.3	244	GTAAAa/a	0			1			-	VK/X	uc001bzi.2	protein_coding	YES	CCDS396.1			730-734/4020									breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8	c.(730-735)GTAAAAfs			Low_complexity_(Seg):seg,hmmpanther:PTHR14396	claspin				ENSP00000312995		25-Apr										25-Apr	.		ENST00000318121	Transcript			activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	ENSG00000092853	g.chr1:36228771_36228775delTTTAC	19715			HIGH								--	--	1																																		CLSPN_uc009vux.2_Frame_Shift_Del_p.V244fs		1			p.V244fs	NM_022111	NP_071394				CLSPN_HUMAN	CLSPN	HGNC	Q9HAW4	CLSPN_HUMAN					4	810_814	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	UPI0000161087	244_245					deletion	CLSPN,frameshift_variant,p.Val244LysfsTer17,ENST00000251195,;CLSPN,frameshift_variant,p.Val244LysfsTer17,ENST00000318121,NM_022111.3;CLSPN,frameshift_variant,p.Val244LysfsTer17,ENST00000520551,;CLSPN,frameshift_variant,p.Val244LysfsTer17,ENST00000373220,NM_001190481.1;	uc001bzi.2	c.730_734delGTAAA	788-792/4169	5	5			c.730_734delGTAAA						1	DEL	c.(730-735)GTAAAAfs	64	64			breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8	Broad	claspin			36228775		0.322	ENSG00000092853	3497	g.chr1:36228771_36228775delTTTAC	activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding																				0.26	1	1	0	1	0	0	0	0	0	--	--		0	-			CLSPN_uc009vux.2_Frame_Shift_Del_p.V244fs	72	GBM-06-0876-TP	p.V244fs	TTTAC	CTTGTGCTTTTTTACTTTGTTTTTT	NM_022111	NP_071394	36228771	Q9HAW4	CLSPN_HUMAN	0			4	810_814	-	-	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	Frame_Shift_Del	244_245						
CLSTN2	0	broad.mit.edu	GRCh37	3	140185512	140185512	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01	TCGA-19-5955-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000458420.3:c.1283G>A	p.Arg428Gln	p.R428Q	ENST00000458420	NM_022131.2	428	cGg/cAg	0			1			A	R/Q	uc003etn.2	protein_coding	YES	CCDS3112.1			1283/2868									skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7	c.(1282-1284)CGG>CAG			hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF3,Pfam_domain:PF13385,Gene3D:2.60.120.200,Superfamily_domains:SSF49899	calsyntenin 2 precursor				ENSP00000402460		17-Aug	2.47E-05			0.000116		1.50E-05		6.06E-05	rs750759979,COSM2156804	17-Aug	.		ENST00000458420	Transcript			homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	ENSG00000158258	g.chr3:140185512G>A	17448			MODERATE		2.47	medium	getma.org/?cm=msa&ty=f&p=CSTN2_HUMAN&rb=354&re=532&var=R428Q	NA	getma.org/?cm=var&var=hg19,3,140185512,G,A&fts=all	R428Q	--	--	1				HNSCC(16;0.037)																														CLSTN2_uc003etm.2_Missense_Mutation_p.R428Q	0,1	1		probably_damaging(0.971)	p.R428Q	NM_022131	NP_071414		tolerated(0.09)	0,1	CSTN2_HUMAN	CLSTN2	HGNC	Q9H4D0	CSTN2_HUMAN			B3KUA5_HUMAN,B3KU27_HUMAN		8	1473	+			UPI00001B0051	428			Extracellular (Potential).		SNV	CLSTN2,missense_variant,p.Arg428Gln,ENST00000458420,NM_022131.2;RP11-68L1.1,upstream_gene_variant,,ENST00000483759,;CLSTN2,non_coding_transcript_exon_variant,,ENST00000511524,;	uc003etn.2	c.1283G>A	1473/14202	1	1			c.1283G>A						3	SNP	c.(1282-1284)CGG>CAG	55	55			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7	Broad	calsyntenin 2 precursor			140185512		0.542	ENSG00000158258	3499	g.chr3:140185512G>A	homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	GBM(45;858 913 3709 36904 37282)			GBM(45;858 913 3709 36904 37282)			41.901803	KEEP	11	5	-1	31	15	11	5	-1	44.301035	31	15	0.277778	1	0	0	0	0	1	0	0	0	--	--	HNSCC(16;0.037)	0	A			CLSTN2_uc003etm.2_Missense_Mutation_p.R428Q	175	GBM-19-5955-TP	p.R428Q	G	TTTCTCTTGCGGAAGGACTTC	NM_022131	NP_071414	140185512	Q9H4D0	CSTN2_HUMAN	0			8	1473	+	A	A			Missense_Mutation	428			Extracellular (Potential).			
CLSTN2	0	broad.mit.edu	GRCh37	3	140281698	140281698	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2521-01	TCGA-27-2521-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000458420.3:c.2258G>A	p.Arg753His	p.R753H	ENST00000458420	NM_022131.2	753	cGc/cAc	0		A:0	1	A:0.0014		A	R/H	uc003etn.2	protein_coding	YES	CCDS3112.1			2258/2868									skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7	c.(2257-2259)CGC>CAC			hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF3	calsyntenin 2 precursor		A:0		ENSP00000402460	A:0	14/17	6.59E-05		0.000518			1.50E-05	0.0011		rs200855654,COSM1419516	14/17	common_variant		ENST00000458420	Transcript		A:0.0002	homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	ENSG00000158258	g.chr3:140281698G>A	17448			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=CSTN2_HUMAN&rb=733&re=932&var=R753H	NA	getma.org/?cm=var&var=hg19,3,140281698,G,A&fts=all	R753H	--	--	1				HNSCC(16;0.037)																															0,1	1		benign(0.005)	p.R753H	NM_022131	NP_071414	A:0	tolerated(0.06)	0,1	CSTN2_HUMAN	CLSTN2	HGNC	Q9H4D0	CSTN2_HUMAN			B3KUA5_HUMAN,B3KU27_HUMAN		14	2448	+			UPI00001B0051	753			Extracellular (Potential).		SNV	CLSTN2,missense_variant,p.Arg753His,ENST00000458420,NM_022131.2;	uc003etn.2	c.2258G>A	2448/14202	2	2			c.2258G>A						3	SNP	c.(2257-2259)CGC>CAC	28	28			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7	Broad	calsyntenin 2 precursor			140281698		0.552	ENSG00000158258	3499	g.chr3:140281698G>A	homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	GBM(45;858 913 3709 36904 37282)			GBM(45;858 913 3709 36904 37282)			17.779406	KEEP	10	7	-1	43	37	10	7	-1	26.54406	43	37	0.148649	1	0	0	0	0	1	0	0	0	--	--	HNSCC(16;0.037)	0	A				200	GBM-27-2521-TP	p.R753H	G	CATCACATCCGCTACCGCAAC	NM_022131	NP_071414	140281698	Q9H4D0	CSTN2_HUMAN	0			14	2448	+	A	A			Missense_Mutation	753			Extracellular (Potential).			
CLSTN3	9746	broad.mit.edu	GRCh37	12	7294683	7294683	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A			TCGA-02-0047-01	TCGA-02-0047-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266546.6:c.1488G>A		p.X496_splice	ENST00000266546	NM_014718.3	496	gaG/gaA	0			1			A	E	uc001qsr.2	protein_coding	YES	CCDS8575.1			1488/2871									large_intestine(1)	1	c.(1486-1488)GAG>GAA			Gene3D:2.60.120.200,Pfam_domain:PF13385,hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF5,Low_complexity_(Seg):seg,Superfamily_domains:SSF49899	calsyntenin 3 precursor				ENSP00000266546		18-Oct									COSM2148981	18-Oct	.		ENST00000266546	Transcript			homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	ENSG00000139182	g.chr12:7294683G>A	18371			LOW								--	--	1																																OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	CLSTN3_uc001qss.2_Silent_p.E508E	1	1			p.E496E	NM_014718	NP_055533			1	CSTN3_HUMAN	CLSTN3	HGNC	Q9BQT9	CSTN3_HUMAN			F5H7C7_HUMAN,F5H5D7_HUMAN,F5H5C6_HUMAN,F5H172_HUMAN		10	1766	+			UPI0000049E7C	496			Extracellular (Potential).		SNV	CLSTN3,splice_region_variant,p.=,ENST00000537408,;CLSTN3,splice_region_variant,p.=,ENST00000266546,NM_014718.3;CLSTN3,splice_region_variant,,ENST00000544584,;CLSTN3,downstream_gene_variant,,ENST00000535668,;CLSTN3,downstream_gene_variant,,ENST00000540931,;CLSTN3,upstream_gene_variant,,ENST00000541770,;	uc001qsr.2	c.1488G>A	1938/4185	1	1			c.1488G>A						12	SNP	c.(1486-1488)GAG>GAA	62	62			large_intestine(1)	1	Broad	calsyntenin 3 precursor			7294683		0.453	ENSG00000139182	3500	g.chr12:7294683G>A	homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding							44.04492	KEEP	7	9	-1	9	9	7	9	-1	44.074096	9	9	0.466667	1	0	0	0	0	0	0	1	0	--	--		0	A	OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	CLSTN3_uc001qss.2_Silent_p.E508E	3	GBM-02-0047-TP	p.E496E	G	TATCCCCAGAGGAGAAGAACA	NM_014718	NP_055533	7294683	Q9BQT9	CSTN3_HUMAN	0			10	1766	+	A	A			Silent	496			Extracellular (Potential).			
CLSTN3	9746	broad.mit.edu	GRCh37	12	7295764	7295764	+	synonymous_variant	Silent	SNP	C	C	T	rs143198009	byFrequency	TCGA-06-0875-01	TCGA-06-0875-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266546.6:c.1704C>T	p.His568=	p.H568=	ENST00000266546	NM_014718.3	568	caC/caT	0	T:0.0002	T:0	1	T:0		T	H	uc001qsr.2	protein_coding	YES	CCDS8575.1			1704/2871									large_intestine(1)	1	c.(1702-1704)CAC>CAT			hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF5	calsyntenin 3 precursor		T:0	T:0.0005	ENSP00000266546	T:0.001	18-Dec	0.000198	0.000193	0.000173			0.000303			rs143198009,COSM2151994	18-Dec	.		ENST00000266546	Transcript			homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	ENSG00000139182	g.chr12:7295764C>T	18371			LOW								--	--	1																																		CLSTN3_uc001qss.2_Silent_p.H580H	0,1	1			p.H568H	NM_014718	NP_055533	T:0		0,1	CSTN3_HUMAN	CLSTN3	HGNC	Q9BQT9	CSTN3_HUMAN			F5H7C7_HUMAN,F5H5D7_HUMAN,F5H5C6_HUMAN,F5H172_HUMAN		12	1982	+			UPI0000049E7C	568			Extracellular (Potential).		SNV	CLSTN3,synonymous_variant,p.=,ENST00000537408,;CLSTN3,synonymous_variant,p.=,ENST00000266546,NM_014718.3;CLSTN3,non_coding_transcript_exon_variant,,ENST00000544584,;CLSTN3,downstream_gene_variant,,ENST00000535668,;CLSTN3,non_coding_transcript_exon_variant,,ENST00000541770,;	uc001qsr.2	c.1704C>T	2154/4185	2	2			c.1704C>T						12	SNP	c.(1702-1704)CAC>CAT	43	43			large_intestine(1)	1	Broad	calsyntenin 3 precursor			7295764		0.612	ENSG00000139182	3500	g.chr12:7295764C>T	homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding							218.836906	KEEP	45	43	-1	83	90	45	43	-1	224.669731	83	90	0.334711	1	0	0	0	0	0	0	1	0	--	--		0	T			CLSTN3_uc001qss.2_Silent_p.H580H	71	GBM-06-0875-TP	p.H568H	C	CCCAGGTCCACGTGAACCCCT	NM_014718	NP_055533	7295764	Q9BQT9	CSTN3_HUMAN	0			12	1982	+	T	T			Silent	568			Extracellular (Potential).			
CLSTN3	0	broad.mit.edu	GRCh37	12	7302219	7302219	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-1837-01	TCGA-27-1837-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266546.6:c.2175C>T	p.Leu725=	p.L725=	ENST00000266546	NM_014718.3	725	ctC/ctT	0		T:0	1	T:0		T	L	uc001qsr.2	protein_coding	YES	CCDS8575.1			2175/2871									large_intestine(1)	1	c.(2173-2175)CTC>CTT			hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF5	calsyntenin 3 precursor		T:0.001		ENSP00000266546	T:0	14/18	8.24E-06			0.000116					rs774966830,COSM3399083	14/18	.		ENST00000266546	Transcript			homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	ENSG00000139182	g.chr12:7302219C>T	18371			LOW								--	--	1																																		CLSTN3_uc001qss.2_Silent_p.L737L	0,1	1			p.L725L	NM_014718	NP_055533	T:0		0,1	CSTN3_HUMAN	CLSTN3	HGNC	Q9BQT9	CSTN3_HUMAN			F5H7C7_HUMAN,F5H5D7_HUMAN,F5H5C6_HUMAN,F5H172_HUMAN		14	2453	+			UPI0000049E7C	725			Extracellular (Potential).		SNV	CLSTN3,synonymous_variant,p.=,ENST00000537408,;CLSTN3,synonymous_variant,p.=,ENST00000266546,NM_014718.3;CLSTN3,non_coding_transcript_exon_variant,,ENST00000541770,;CLSTN3,upstream_gene_variant,,ENST00000542663,;	uc001qsr.2	c.2175C>T	2625/4185	2	2			c.2175C>T						12	SNP	c.(2173-2175)CTC>CTT	46	46			large_intestine(1)	1	Broad	calsyntenin 3 precursor			7302219		0.582	ENSG00000139182	3500	g.chr12:7302219C>T	homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding							31.650456	KEEP	6	9	-1	20	23	6	9	-1	34.091318	20	23	0.265306	1	0	0	0	0	0	0	1	0	--	--		0	T			CLSTN3_uc001qss.2_Silent_p.L737L	196	GBM-27-1837-TP	p.L725L	C	AAAGCCTGCTCCTGGACACAA	NM_014718	NP_055533	7302219	Q9BQT9	CSTN3_HUMAN	0			14	2453	+	T	T			Silent	725			Extracellular (Potential).			
CLSTN3	0	broad.mit.edu	GRCh37	12	7310162	7310162	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266546.6:c.2605C>T	p.Arg869Cys	p.R869C	ENST00000266546	NM_014718.3	869	Cgc/Tgc	0			1			T	R/C	uc001qsr.2	protein_coding	YES	CCDS8575.1			2605/2871									large_intestine(1)	1	c.(2605-2607)CGC>TGC			hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF5	calsyntenin 3 precursor				ENSP00000266546		17/18	2.47E-05					4.67E-05			rs750797901,COSM3399085	17/18	.		ENST00000266546	Transcript			homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	ENSG00000139182	g.chr12:7310162C>T	18371			MODERATE		2.43	medium	getma.org/?cm=msa&ty=f&p=CSTN3_HUMAN&rb=743&re=942&var=R869C	NA	getma.org/?cm=var&var=hg19,12,7310162,C,T&fts=all	R869C	--	--	1																																		CLSTN3_uc001qss.2_Missense_Mutation_p.R881C|CLSTN3_uc001qst.2_Missense_Mutation_p.R277C	0,1	1		probably_damaging(0.998)	p.R869C	NM_014718	NP_055533		deleterious(0)	0,1	CSTN3_HUMAN	CLSTN3	HGNC	Q9BQT9	CSTN3_HUMAN			F5H7C7_HUMAN,F5H5D7_HUMAN,F5H5C6_HUMAN,F5H172_HUMAN		17	2883	+			UPI0000049E7C	869			Cytoplasmic (Potential).		SNV	CLSTN3,missense_variant,p.Arg881Cys,ENST00000537408,;CLSTN3,missense_variant,p.Arg869Cys,ENST00000266546,NM_014718.3;CLSTN3,non_coding_transcript_exon_variant,,ENST00000331148,;CLSTN3,non_coding_transcript_exon_variant,,ENST00000535313,;	uc001qsr.2	c.2605C>T	3055/4185	2	2			c.2605C>T						12	SNP	c.(2605-2607)CGC>TGC	30	30			large_intestine(1)	1	Broad	calsyntenin 3 precursor			7310162		0.657	ENSG00000139182	3500	g.chr12:7310162C>T	homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding							43.994837	KEEP	12	6	-1	14	9	12	6	-1	44.141659	14	9	0.432432	1	0	0	0	0	1	0	0	0	--	--		0	T			CLSTN3_uc001qss.2_Missense_Mutation_p.R881C|CLSTN3_uc001qst.2_Missense_Mutation_p.R277C	271	GBM-76-4932-TP	p.R869C	C	GGGCCTGGTGCGCATCCATTC	NM_014718	NP_055533	7310162	Q9BQT9	CSTN3_HUMAN	0			17	2883	+	T	T			Missense_Mutation	869			Cytoplasmic (Potential).			
CLTC	1213		GRCh37	17	57738898	57738898	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000269122.3:c.1262T>C	p.Leu421Pro	p.L421P	ENST00000269122	NM_004859.3	421	cTt/cCt	0																																																																																																																																																																																																																																												
CLU	0	broad.mit.edu	GRCh37	8	27456003	27456003	+	synonymous_variant	Silent	SNP	C	C	T	rs144959547	byFrequency	TCGA-12-3650-01	TCGA-12-3650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316403.10:c.1314G>A	p.Ala438=	p.A438=	ENST00000316403		438	gcG/gcA	0	A:0.0027	A:0.0015	1	A:0		T	A	uc003xfw.1	protein_coding	YES	CCDS47832.1			1314/1350									ovary(2)	2	c.(1312-1314)GCG>GCA			PIRSF_domain:PIRSF002368,SMART_domains:SM00035,Pfam_domain:PF01093,hmmpanther:PTHR10970:SF1,hmmpanther:PTHR10970	clusterin isoform 2		A:0	A:0	ENSP00000315130	A:0	9-Aug	1.65E-05						0.00111	6.06E-05	rs144959547,COSM3412963	9-Aug	.		ENST00000316403	Transcript		A:0.0004	chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding	ENSG00000120885	g.chr8:27456003C>T	2095			LOW								--	--	1																																		CLU_uc010lux.1_Silent_p.A303A|CLU_uc003xfx.1_Silent_p.A438A|CLU_uc003xfy.1_Silent_p.A449A|CLU_uc003xfz.1_Silent_p.A490A	0,1	1			p.A438A	NM_203339	NP_976084	A:0		0,1	CLUS_HUMAN	CLU	HGNC	P10909	CLUS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)	Q8IWM0_HUMAN,Q8IWL5_HUMAN,Q6LDQ3_HUMAN,E7ERK6_HUMAN,E5RJZ5_HUMAN,E5RJD6_HUMAN,E5RH61_HUMAN,E5RGB0_HUMAN,E5RG36_HUMAN,B4DW11_HUMAN		7	1372	-		Ovarian(32;2.61e-05)	UPI0000127BA6	438					SNV	CLU,synonymous_variant,p.=,ENST00000316403,;CLU,synonymous_variant,p.=,ENST00000560366,NM_001831.3;CLU,synonymous_variant,p.=,ENST00000546343,;CLU,synonymous_variant,p.=,ENST00000523500,;CLU,synonymous_variant,p.=,ENST00000405140,;CLU,synonymous_variant,p.=,ENST00000521770,;CLU,downstream_gene_variant,,ENST00000522098,;CLU,non_coding_transcript_exon_variant,,ENST00000522299,;	uc003xfw.1	c.1314G>A	1720/3080	1	1			c.1314G>A						8	SNP	c.(1312-1314)GCG>GCA	5	5			ovary(2)	2	Broad	clusterin isoform 2			27456003		0.542	ENSG00000120885	3505	g.chr8:27456003C>T	chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding							-27.020657	KEEP	2	2	-1	90	59	2	2	-1	7.23155	90	59	0.028571	1	0	0	0	0	0	0	1	0	--	--		0	T			CLU_uc010lux.1_Silent_p.A303A|CLU_uc003xfx.1_Silent_p.A438A|CLU_uc003xfy.1_Silent_p.A449A|CLU_uc003xfz.1_Silent_p.A490A	126	GBM-12-3650-TP	p.A438A	C	ATTCCTGCAGCGCTTTCTCCG	NM_203339	NP_976084	27456003	P10909	CLUS_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)	7	1372	-	T	T		Ovarian(32;2.61e-05)	Silent	438						
CLUL1	0	broad.mit.edu	GRCh37	18	633305	633305	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-27-2521-01	TCGA-27-2521-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338387.7:c.864C>A	p.Asp288Glu	p.D288E	ENST00000338387	NM_199167.1	288	gaC/gaA	0			1			A	D/E	uc002kkp.2	protein_coding		CCDS42405.1			864/1401									ovary(2)	2	c.(862-864)GAC>GAA			hmmpanther:PTHR10970,hmmpanther:PTHR10970:SF2,Pfam_domain:PF01093,SMART_domains:SM00035	clusterin-like 1 (retinal) precursor				ENSP00000341128		9-Jun									COSM3403614	9-Jun	.		ENST00000338387	Transcript			cell death	extracellular region		ENSG00000079101	g.chr18:633305C>A	2096			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=CLUL1_HUMAN&rb=32&re=466&var=D288E	NA	getma.org/?cm=var&var=hg19,18,633305,C,A&fts=all	D288E	--	--	1																																		CLUL1_uc010wys.1_Missense_Mutation_p.D340E|CLUL1_uc002kkq.2_Missense_Mutation_p.D288E	1			benign(0.248)	p.D288E	NM_014410	NP_055225		tolerated(0.07)	1	CLUL1_HUMAN	CLUL1	HGNC	Q15846	CLUL1_HUMAN					6	1009	+			UPI00000499ED	288					SNV	CLUL1,missense_variant,p.Asp313Glu,ENST00000581619,;CLUL1,missense_variant,p.Asp340Glu,ENST00000540035,;CLUL1,missense_variant,p.Asp288Glu,ENST00000400606,NM_014410.4;CLUL1,missense_variant,p.Asp288Glu,ENST00000338387,NM_199167.1;CLUL1,missense_variant,p.Asp288Glu,ENST00000579494,;	uc002kkp.2	c.864C>A	963/1897	1	1			c.864C>A						18	SNP	c.(862-864)GAC>GAA	55	55			ovary(2)	2	Broad	clusterin-like 1 (retinal) precursor			633305		0.428	ENSG00000079101	3507	g.chr18:633305C>A	cell death	extracellular region								-3.519962	KEEP	3	3	0.5	40	51	3	3	0.5	13.725521	40	51	0.067416	1	0	0	0	0	1	0	0	0	--	--		0	A			CLUL1_uc010wys.1_Missense_Mutation_p.D340E|CLUL1_uc002kkq.2_Missense_Mutation_p.D288E	200	GBM-27-2521-TP	p.D288E	C	TAGCTCCTGACCACGGAGGCC	NM_014410	NP_055225	633305	Q15846	CLUL1_HUMAN	0			6	1009	+	A	A			Missense_Mutation	288						
CLVS1	0	broad.mit.edu	GRCh37	8	62212806	62212806	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-19-1390-01	TCGA-19-1390-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325897.4:c.420T>C	p.Ile140=	p.I140=	ENST00000325897	NM_173519.2	140	atT/atC	0			1			C	I	uc003xuh.2	protein_coding		CCDS6176.1			420/1065									skin(4)|ovary(1)	5	c.(418-420)ATT>ATC			Gene3D:3.40.525.10,Pfam_domain:PF00650,Prints_domain:PR00180,PROSITE_profiles:PS50191,hmmpanther:PTHR10174,hmmpanther:PTHR10174:SF72,SMART_domains:SM00516,Superfamily_domains:SSF52087	retinaldehyde binding protein 1-like 1				ENSP00000325506		6-Feb									COSM3413082	6-Feb	.		ENST00000325897	Transcript			lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	ENSG00000177182	g.chr8:62212806T>C	23139			LOW								--	--	1																																		CLVS1_uc003xug.2_Silent_p.I140I|CLVS1_uc003xui.2_Intron|CLVS1_uc010lyp.2_Silent_p.I140I	1				p.I140I	NM_173519	NP_775790			1	CLVS1_HUMAN	CLVS1	HGNC	Q8IUQ0	CLVS1_HUMAN			G3V122_HUMAN,E5RK22_HUMAN,E5RI68_HUMAN		2	744	+			UPI000007472D	140			CRAL-TRIO.		SNV	CLVS1,synonymous_variant,p.=,ENST00000519846,;CLVS1,synonymous_variant,p.=,ENST00000325897,NM_173519.2;CLVS1,intron_variant,,ENST00000518592,;CLVS1,downstream_gene_variant,,ENST00000522621,;RP11-787D18.1,non_coding_transcript_exon_variant,,ENST00000518064,;RP11-787D18.1,downstream_gene_variant,,ENST00000521801,;CLVS1,non_coding_transcript_exon_variant,,ENST00000521189,;CLVS1,downstream_gene_variant,,ENST00000523868,;	uc003xuh.2	c.420T>C	738/3486	3	3			c.420T>C						8	SNP	c.(418-420)ATT>ATC	49	49			skin(4)|ovary(1)	5	Broad	retinaldehyde binding protein 1-like 1			62212806		0.448	ENSG00000177182	3508	g.chr8:62212806T>C	lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity							112.021188	KEEP	17	20	-1	22	15	17	20	-1	112.136067	22	15	0.455882	1	0	0	0	0	0	0	1	0	--	--		0	C			CLVS1_uc003xug.2_Silent_p.I140I|CLVS1_uc003xui.2_Intron|CLVS1_uc010lyp.2_Silent_p.I140I	159	GBM-19-1390-TP	p.I140I	T	GCAGGAAGATTCTTTTGCTGT	NM_173519	NP_775790	62212806	Q8IUQ0	CLVS1_HUMAN	0			2	744	+	C	C			Silent	140			CRAL-TRIO.			
CLYBL	0	broad.mit.edu	GRCh37	13	100425088	100425088	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-5954-01	TCGA-19-5954-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339105.4:c.73C>G	p.Leu25Val	p.L25V	ENST00000339105		25	Cta/Gta	0			1			G	L/V	uc001vok.2	protein_coding		CCDS32002.1			73/1023										0	c.(73-75)CTA>GTA			PIRSF_domain:PIRSF015582,hmmpanther:PTHR11105:SF0,hmmpanther:PTHR11105,Low_complexity_(Seg):seg	citrate lyase beta like precursor				ENSP00000342991		9-Feb									COSM2156743	9-Feb	.		ENST00000339105	Transcript			cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding	ENSG00000125246	g.chr13:100425088C>G	18355			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CLYBL_HUMAN&rb=1&re=45&var=L25V	NA	getma.org/?cm=var&var=hg19,13,100425088,C,G&fts=all	L25V	--	--	1																																		CLYBL_uc010tix.1_Missense_Mutation_p.L25V|CLYBL_uc010tiy.1_Missense_Mutation_p.L25V	1			benign(0)	p.L25V	NM_206808	NP_996531		tolerated_low_confidence(0.06)	1	CLYBL_HUMAN	CLYBL	HGNC	Q8N0X4	CLYBL_HUMAN			Q5JVC0_HUMAN		2	87	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		UPI0000071ADE	25					SNV	CLYBL,missense_variant,p.Leu25Val,ENST00000376355,NM_206808.2;CLYBL,missense_variant,p.Leu25Val,ENST00000376360,;CLYBL,missense_variant,p.Leu25Val,ENST00000444838,;CLYBL,missense_variant,p.Leu25Val,ENST00000339105,;CLYBL,missense_variant,p.Leu25Val,ENST00000376354,;	uc001vok.2	c.73C>G	73/1169	3	3			c.73C>G						13	SNP	c.(73-75)CTA>GTA	63	63				0	Broad	citrate lyase beta like precursor			100425088		0.388	ENSG00000125246	3510	g.chr13:100425088C>G	cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding							139.867578	KEEP	19	22	-1	40	44	19	22	-1	142.103257	40	44	0.350877	1	0	0	0	0	1	0	0	0	--	--		0	G			CLYBL_uc010tix.1_Missense_Mutation_p.L25V|CLYBL_uc010tiy.1_Missense_Mutation_p.L25V	174	GBM-19-5954-TP	p.L25V	C	GAAAGCGTCTCTAGCAGCTGA	NM_206808	NP_996531	100425088	Q8N0X4	CLYBL_HUMAN	0			2	87	+	G	G	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		Missense_Mutation	25						
CLYBL	0	broad.mit.edu	GRCh37	13	100515267	100515267	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-5960-01	TCGA-19-5960-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339105.4:c.461A>G	p.His154Arg	p.H154R	ENST00000339105		154	cAc/cGc	0			1			G	H/R	uc001vok.2	protein_coding		CCDS32002.1			461/1023										0	c.(460-462)CAC>CGC			Superfamily_domains:SSF51621,PIRSF_domain:PIRSF015582,Pfam_domain:PF03328,Gene3D:3.20.20.60,hmmpanther:PTHR11105:SF0,hmmpanther:PTHR11105	citrate lyase beta like precursor				ENSP00000342991		9-Apr									COSM3399212,COSM3399213	9-Apr	.		ENST00000339105	Transcript			cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding	ENSG00000125246	g.chr13:100515267A>G	18355			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CLYBL_HUMAN&rb=46&re=274&var=H154R	getma.org/pdb.php?prot=CLYBL_HUMAN&from=46&to=274&var=H154R	getma.org/?cm=var&var=hg19,13,100515267,A,G&fts=all	H154R	--	--	1																																		CLYBL_uc010tix.1_Missense_Mutation_p.H154R|CLYBL_uc010tiy.1_Intron	1,1			benign(0.009)	p.H154R	NM_206808	NP_996531		tolerated(0.27)	1,1	CLYBL_HUMAN	CLYBL	HGNC	Q8N0X4	CLYBL_HUMAN			Q5JVC0_HUMAN		4	475	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		UPI0000071ADE	154					SNV	CLYBL,missense_variant,p.His154Arg,ENST00000376360,;CLYBL,missense_variant,p.His154Arg,ENST00000339105,;CLYBL,missense_variant,p.His71Arg,ENST00000416504,;CLYBL,intron_variant,,ENST00000376355,NM_206808.2;CLYBL,intron_variant,,ENST00000444838,;CLYBL,intron_variant,,ENST00000376354,;CLYBL,intron_variant,,ENST00000443887,;CLYBL,upstream_gene_variant,,ENST00000419700,;	uc001vok.2	c.461A>G	461/1169	3	3			c.461A>G						13	SNP	c.(460-462)CAC>CGC	1	1				0	Broad	citrate lyase beta like precursor			100515267		0.358	ENSG00000125246	3510	g.chr13:100515267A>G	cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding							107.713886	KEEP	22	21	-1	18	31	22	21	-1	107.937288	18	31	0.443038	1	0	0	0	0	1	0	0	0	--	--		0	G			CLYBL_uc010tix.1_Missense_Mutation_p.H154R|CLYBL_uc010tiy.1_Intron	178	GBM-19-5960-TP	p.H154R	A	TTTTCATTCCACTTAAAAGGC	NM_206808	NP_996531	100515267	Q8N0X4	CLYBL_HUMAN	0			4	475	+	G	G	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		Missense_Mutation	154						
CLYBL	0	broad.mit.edu	GRCh37	13	100425263	100425263	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C			TCGA-41-3392-01	TCGA-41-3392-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339105.4:c.248A>C	p.Lys83Thr	p.K83T	ENST00000339105		83	aAg/aCg	0			1			C	K/T	uc001vok.2	protein_coding		CCDS32002.1			248/1023										0	c.(247-249)AAG>ACG			Superfamily_domains:SSF51621,PIRSF_domain:PIRSF015582,Pfam_domain:PF03328,Gene3D:3.20.20.60,hmmpanther:PTHR11105:SF0,hmmpanther:PTHR11105	citrate lyase beta like precursor				ENSP00000342991		9-Feb									COSM3399211	9-Feb	.		ENST00000339105	Transcript			cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding	ENSG00000125246	g.chr13:100425263A>C	18355			MODERATE		3.815	high	getma.org/?cm=msa&ty=f&p=CLYBL_HUMAN&rb=46&re=274&var=K83T	getma.org/pdb.php?prot=CLYBL_HUMAN&from=46&to=274&var=K83T	getma.org/?cm=var&var=hg19,13,100425263,A,C&fts=all	K83T	--	--	1																																		CLYBL_uc010tix.1_Missense_Mutation_p.K83T|CLYBL_uc010tiy.1_Missense_Mutation_p.K83T	1			probably_damaging(0.99)	p.K83T	NM_206808	NP_996531		deleterious(0)	1	CLYBL_HUMAN	CLYBL	HGNC	Q8N0X4	CLYBL_HUMAN			Q5JVC0_HUMAN		2	262	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		UPI0000071ADE	83					SNV	CLYBL,missense_variant,p.Lys83Thr,ENST00000376355,NM_206808.2;CLYBL,missense_variant,p.Lys83Thr,ENST00000376360,;CLYBL,missense_variant,p.Lys83Thr,ENST00000444838,;CLYBL,missense_variant,p.Lys83Thr,ENST00000339105,;CLYBL,missense_variant,p.Lys83Thr,ENST00000376354,;	uc001vok.2	c.248A>C	248/1169	4	4			c.248A>C						13	SNP	c.(247-249)AAG>ACG	33	33				0	Broad	citrate lyase beta like precursor			100425263		0.383	ENSG00000125246	3510	g.chr13:100425263A>C	cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding							181.254208	KEEP	30	36	-1	28	21	30	36	-1	181.58808	28	21	0.559633	1	0	0	0	0	1	0	0	0	--	--		0	C			CLYBL_uc010tix.1_Missense_Mutation_p.K83T|CLYBL_uc010tiy.1_Missense_Mutation_p.K83T	254	GBM-41-3392-TP	p.K83T	A	GCAAACAAAAAGGTAATGGCA	NM_206808	NP_996531	100425263	Q8N0X4	CLYBL_HUMAN	0			2	262	+	C	C	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		Missense_Mutation	83						
CMA1	0	broad.mit.edu	GRCh37	14	24976583	24976583	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs13306251	by1000genomes	TCGA-06-6700-01	TCGA-06-6700-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000250378.3:c.188C>T	p.Thr63Met	p.T63M	ENST00000250378	NM_001836.3	63	aCg/aTg	0	A:0	A:0	1	A:0		A	T/M	uc001wpp.1	protein_coding	YES	CCDS9630.1			188/744										0	c.(187-189)ACG>ATG			Gene3D:2.40.10.10,Pfam_domain:PF00089,Prints_domain:PR00722,PROSITE_patterns:PS00134,PROSITE_profiles:PS50240,hmmpanther:PTHR24271,hmmpanther:PTHR24271:SF17,SMART_domains:SM00020,Superfamily_domains:SSF50494	chymase 1, mast cell preproprotein		A:0.001	A:0.0001	ENSP00000250378	A:0	5-Feb	0.000494		0.000173	0.00127		3.00E-05	0.0011	0.00266	rs13306251,COSM3401271	5-Feb	common_variant		ENST00000250378	Transcript		A:0.0010	interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	ENSG00000092009	g.chr14:24976583G>A	2097			MODERATE		4.17	high	getma.org/?cm=msa&ty=f&p=CMA1_HUMAN&rb=22&re=240&var=T63M	getma.org/pdb.php?prot=CMA1_HUMAN&from=22&to=240&var=T63M	getma.org/?cm=var&var=hg19,14,24976583,G,A&fts=all	T63M	--	--	1																																		CMA1_uc010alx.1_Intron	0,1	1		probably_damaging(0.973)	p.T63M	NM_001836	NP_001827	A:0.0041	deleterious(0.01)	0,1	CMA1_HUMAN	CMA1	HGNC	P23946	CMA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0271)	Q4FEB5_HUMAN,Q3SY37_HUMAN		2	218	-			UPI000012EDED	63			Peptidase S1.		SNV	CMA1,missense_variant,p.Thr63Met,ENST00000250378,NM_001836.3;RP11-80A15.1,intron_variant,,ENST00000555109,;CMA1,intron_variant,,ENST00000206446,;	uc001wpp.1	c.188C>T	218/937	2	2			c.188C>T						14	SNP	c.(187-189)ACG>ATG	30	30				0	Broad	chymase 1, mast cell preproprotein			24976583		0.488	ENSG00000092009	3511	g.chr14:24976583G>A	interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity							75.388166	KEEP	18	18	-1	67	58	18	18	-1	85.09015	67	58	0.229167	1	0	0	0	0	1	0	0	0	--	--		0	A			CMA1_uc010alx.1_Intron	114	GBM-06-6700-TP	p.T63M	G	ATGAGCAGCCGTCAGCACAAA	NM_001836	NP_001827	24976583	P23946	CMA1_HUMAN	0		GBM - Glioblastoma multiforme(265;0.0271)	2	218	-	A	A			Missense_Mutation	63			Peptidase S1.			
CMPK1	0	broad.mit.edu	GRCh37	1	47838725	47838725	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-08-0386-01	TCGA-08-0386-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371873.5:c.417C>T	p.Thr139=	p.T139=	ENST00000371873	NM_001136140.1	139	acC/acT	0			1			T	T	uc001cri.2	protein_coding	YES	CCDS549.1			417/687									ovary(1)	1	c.(415-417)ACC>ACT			HAMAP:MF_03172,HAMAP:MF_00235,hmmpanther:PTHR23359,TIGRFAM_domain:TIGR01359,Gene3D:3.40.50.300,Pfam_domain:PF00406,Superfamily_domains:SSF52540	UMP-CMP kinase 1 isoform a	Gemcitabine(DB00441)			ENSP00000360939		6-Mar									COSM3400860	6-Mar	.		ENST00000371873	Transcript			nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleus	ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity	ENSG00000162368	g.chr1:47838725C>T	18170			LOW								--	--	1																																		CMPK1_uc010omp.1_Silent_p.T90T|CMPK1_uc010omq.1_RNA	1	1			p.T139T	NM_016308	NP_057392			1	KCY_HUMAN	CMPK1	HGNC	P30085	KCY_HUMAN			B2R6S5_HUMAN		3	566	+			UPI000013E14C	107					SNV	CMPK1,synonymous_variant,p.=,ENST00000371873,NM_001136140.1,NM_016308.2;CMPK1,synonymous_variant,p.=,ENST00000450808,;CMPK1,synonymous_variant,p.=,ENST00000371871,;CMPK1,non_coding_transcript_exon_variant,,ENST00000371870,;	uc001cri.2	c.417C>T	566/2930	2	2			c.417C>T						1	SNP	c.(415-417)ACC>ACT	25	25			ovary(1)	1	Broad	UMP-CMP kinase 1 isoform a		Gemcitabine(DB00441)	47838725		0.388	ENSG00000162368	3517	g.chr1:47838725C>T	nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleus	ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity							-6.910905	KEEP	6	4	-1	73	64	6	4	-1	18.084758	73	64	0.063492	1	0	0	0	0	0	0	1	0	--	--		0	T			CMPK1_uc010omp.1_Silent_p.T90T|CMPK1_uc010omq.1_RNA	116	GBM-08-0386-TP	p.T139T	C	GGAACAAGACCATGGATGGGA	NM_016308	NP_057392	47838725	P30085	KCY_HUMAN	0			3	566	+	T	T			Silent	107						
CMSS1	0	broad.mit.edu	GRCh37	3	99891168	99891168	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-1043-01	TCGA-14-1043-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000421999.2:c.588G>A	p.Ala196=	p.A196=	ENST00000421999	NM_032359.3	196	gcG/gcA	0			1			A	A	uc003dtl.2	protein_coding	YES	CCDS2935.1			588/840									skin(1)	1	c.(586-588)GCG>GCA			Gene3D:3.40.50.300,Pfam_domain:PF14617,hmmpanther:PTHR24030,Superfamily_domains:SSF52540	hypothetical protein LOC84319				ENSP00000410396		10-Aug	2.47E-05		8.79E-05			1.50E-05		6.09E-05	rs750330461,COSM397781	10-Aug	.		ENST00000421999	Transcript					ATP binding|ATP-dependent helicase activity|nucleic acid binding	ENSG00000184220	g.chr3:99891168G>A	28666			LOW								--	--	1																																			0,1	1			p.A196A	NM_032359	NP_115735			0,1	CMS1_HUMAN	CMSS1	HGNC	Q9BQ75	CC026_HUMAN			D3DN44_HUMAN,C9IY68_HUMAN		8	731	+			UPI00001B0297	196					SNV	CMSS1,synonymous_variant,p.=,ENST00000421999,NM_032359.3;CMSS1,synonymous_variant,p.=,ENST00000489081,NM_001167924.1;CMSS1,synonymous_variant,p.=,ENST00000478909,;CMSS1,intron_variant,,ENST00000497345,;CMSS1,upstream_gene_variant,,ENST00000494412,;CMSS1,3_prime_UTR_variant,,ENST00000491299,;CMSS1,non_coding_transcript_exon_variant,,ENST00000479555,;	uc003dtl.2	c.588G>A	734/1201	2	2			c.588G>A						3	SNP	c.(586-588)GCG>GCA	36	36			skin(1)	1	Broad	hypothetical protein LOC84319			99891168		0.413	ENSG00000184220	2174	g.chr3:99891168G>A			ATP binding|ATP-dependent helicase activity|nucleic acid binding							38.103015	KEEP	6	14	-1	38	42	6	14	-1	44.049419	38	42	0.219512	1	0	0	0	0	0	0	1	0	--	--		0	A				143	GBM-14-1043-TP	p.A196A	G	AGGTCCAGGCGCAGGTAAAGT	NM_032359	NP_115735	99891168	Q9BQ75	CC026_HUMAN	0			8	731	+	A	A			Silent	196						
CMTR1	23070	broad.mit.edu	GRCh37	6	37446254	37446254	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6390-01	TCGA-06-6390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373451.4:c.2223G>A	p.Arg741=	p.R741=	ENST00000373451	NM_015050.2	741	cgG/cgA	0	A:0		1			A	R	uc003ons.2	protein_coding	YES	CCDS4835.1			2223/2508									ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5	c.(2221-2223)CGG>CGA			hmmpanther:PTHR16121:SF0,hmmpanther:PTHR16121	FtsJ methyltransferase domain containing 2			A:0.0001	ENSP00000362550		22/24	8.24E-06					1.50E-05			rs371966953	22/24	.		ENST00000373451	Transcript			mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding	ENSG00000137200	g.chr6:37446254G>A	21077			LOW								--	--	1																																				1			p.R741R	NM_015050	NP_055865				CMTR1_HUMAN	CMTR1	HGNC	Q8N1G2	MTR1_HUMAN					22	2476	+			UPI00000700C2	741			Interaction with POLR2A.		SNV	CMTR1,synonymous_variant,p.=,ENST00000373451,NM_015050.2;CMTR1,synonymous_variant,p.=,ENST00000457419,;CCDC167,downstream_gene_variant,,ENST00000373408,NM_138493.2;CMTR1,3_prime_UTR_variant,,ENST00000475364,;	uc003ons.2	c.2223G>A	2387/4033	1	1			c.2223G>A						6	SNP	c.(2221-2223)CGG>CGA	62	62			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5	Broad	FtsJ methyltransferase domain containing 2			37446254		0.587	ENSG00000137200	5985	g.chr6:37446254G>A	mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding							-43.480114	KEEP	3	1	-1	99	108	3	1	-1	6.750827	99	108	0.020513	1	0	0	0	0	0	0	1	0	--	--		0	A				106	GBM-06-6390-TP	p.R741R	G	GTGATGACCGGCACTTTGTAC	NM_015050	NP_055865	37446254	Q8N1G2	MTR1_HUMAN	0			22	2476	+	A	A			Silent	741			Interaction with POLR2A.			
CMTR1	23070		GRCh37	6	37438827	37438827	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000373451.4:c.1536G>A	p.Ala512=	p.A512=	ENST00000373451	NM_015050.2	512	gcG/gcA	0																																																																																																																																																																																																																																												
CMYA5	202333	broad.mit.edu	GRCh37	5	79035031	79035031	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0744-01	TCGA-06-0744-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000446378.2:c.10443G>A	p.Leu3481=	p.L3481=	ENST00000446378	NM_153610.3	3481	ttG/ttA	0			1			A	L	uc003kgc.2	protein_coding	YES	CCDS47238.1			10443/12210									ovary(6)|pancreas(2)|lung(1)	9	c.(10441-10443)TTG>TTA			hmmpanther:PTHR24099,hmmpanther:PTHR24099:SF7	cardiomyopathy associated 5				ENSP00000394770		13-Feb									COSM2151640,COSM2151639	13-Feb	.		ENST00000446378	Transcript				perinuclear region of cytoplasm		ENSG00000164309	g.chr5:79035031G>A	14305			LOW								--	--	1																																			1,1	1			p.L3481L	NM_153610	NP_705838			1,1	CMYA5_HUMAN	CMYA5	HGNC	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)			2	10515	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	UPI00004F9478	3481					SNV	CMYA5,synonymous_variant,p.=,ENST00000446378,NM_153610.3;CMYA5,non_coding_transcript_exon_variant,,ENST00000506603,;	uc003kgc.2	c.10443G>A	10474/12847	1	1			c.10443G>A						5	SNP	c.(10441-10443)TTG>TTA	64	64			ovary(6)|pancreas(2)|lung(1)	9	Broad	cardiomyopathy associated 5			79035031		0.403	ENSG00000164309	3527	g.chr5:79035031G>A		perinuclear region of cytoplasm								51.927758	KEEP	4	12	-1	3	10	4	12	-1	52.000224	3	10	0.555556	1	0	0	0	0	0	0	1	0	--	--		0	A				66	GBM-06-0744-TP	p.L3481L	G	AAAAAGAGTTGGGCAGCGAGA	NM_153610	NP_705838	79035031	Q8N3K9	CMYA5_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	10515	+	A	A		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	Silent	3481						
CMYA5	0	broad.mit.edu	GRCh37	5	79029879	79029879	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-26-6173-01	TCGA-26-6173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000446378.2:c.5291G>T	p.Gly1764Val	p.G1764V	ENST00000446378	NM_153610.3	1764	gGa/gTa	0			1			T	G/V	uc003kgc.2	protein_coding	YES	CCDS47238.1			5291/12210									ovary(6)|pancreas(2)|lung(1)	9	c.(5290-5292)GGA>GTA			hmmpanther:PTHR24099,hmmpanther:PTHR24099:SF7	cardiomyopathy associated 5				ENSP00000394770		13-Feb									COSM3410440,COSM3410439	13-Feb	.		ENST00000446378	Transcript				perinuclear region of cytoplasm		ENSG00000164309	g.chr5:79029879G>T	14305			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=CMYA5_HUMAN&rb=1601&re=1800&var=G1764V	NA	getma.org/?cm=var&var=hg19,5,79029879,G,T&fts=all	G1764V	--	--	1																																			1,1	1		probably_damaging(0.941)	p.G1764V	NM_153610	NP_705838			1,1	CMYA5_HUMAN	CMYA5	HGNC	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)			2	5363	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	UPI00004F9478	1764					SNV	CMYA5,missense_variant,p.Gly1764Val,ENST00000446378,NM_153610.3;CMYA5,upstream_gene_variant,,ENST00000506603,;	uc003kgc.2	c.5291G>T	5322/12847	1	1			c.5291G>T						5	SNP	c.(5290-5292)GGA>GTA	1	1			ovary(6)|pancreas(2)|lung(1)	9	Broad	cardiomyopathy associated 5			79029879		0.413	ENSG00000164309	3527	g.chr5:79029879G>T		perinuclear region of cytoplasm								51.347621	KEEP	14	11	0.56	41	36	14	11	0.56	56.460577	41	36	0.255319	1	0	0	0	0	1	0	0	0	--	--		0	T				187	GBM-26-6173-TP	p.G1764V	G	TTTAAAAAGGGAGGAAATCAA	NM_153610	NP_705838	79029879	Q8N3K9	CMYA5_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	5363	+	T	T		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	Missense_Mutation	1764						
CMYA5	202333		GRCh37	5	79026546	79026546	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000446378.2:c.1958T>C	p.Leu653Pro	p.L653P	ENST00000446378	NM_153610.3	653	cTc/cCc	0																																																																																																																																																																																																																																												
CNBD2	140894	broad.mit.edu	GRCh37	20	34571988	34571988	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-0137-01	TCGA-06-0137-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000349339.1:c.492C>A	p.Thr164=	p.T164=	ENST00000349339	NM_080834.2	164	acC/acA	0			1			A	T	uc002xes.1	protein_coding					492/1731										0	c.(490-492)ACC>ACA			PROSITE_profiles:PS50042,hmmpanther:PTHR23011:SF1,hmmpanther:PTHR23011,Gene3D:2.60.120.10,Pfam_domain:PF00027,SMART_domains:SM00100,Superfamily_domains:SSF51206	SubName: Full=C20orf152 protein;				ENSP00000363084		12-May										12-May	.		ENST00000373973	Transcript						ENSG00000149646	g.chr20:34571988C>A	16145			LOW								--	--	1																																		C20orf152_uc002xer.1_Silent_p.T164T|C20orf152_uc010gfp.1_Intron					p.T164T						CNBD2_HUMAN	CNBD2	HGNC	Q96M20	CT152_HUMAN					5	648	+	Breast(12;0.00631)		UPI000004A83C	164			cNMP.		SNV	CNBD2,synonymous_variant,p.=,ENST00000373973,;CNBD2,synonymous_variant,p.=,ENST00000349339,NM_080834.2;CNBD2,synonymous_variant,p.=,ENST00000538900,NM_001207076.1;CNBD2,intron_variant,,ENST00000463258,;	uc002xes.1	c.492C>A	665/1956	2	2			c.492C>A						20	SNP	c.(490-492)ACC>ACA	25	25				0	Broad	SubName: Full=C20orf152 protein;			34571988		0.532	ENSG00000149646	2049	g.chr20:34571988C>A										-21.314385	KEEP	2	2	0.5	60	62	2	2	0.5	7.485451	60	62	0.033058	1	0	0	0	0	0	0	1	0	--	--		0	A			C20orf152_uc002xer.1_Silent_p.T164T|C20orf152_uc010gfp.1_Intron	18	GBM-06-0137-TP	p.T164T	C	TTGCAATAACCAAGGACGAGG			34571988	Q96M20	CT152_HUMAN	0			5	648	+	A	A	Breast(12;0.00631)		Silent	164			cNMP.			
CNBD2	140894	broad.mit.edu	GRCh37	20	34572591	34572591	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0219-01	TCGA-06-0219-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000349339.1:c.607G>A	p.Val203Ile	p.V203I	ENST00000349339	NM_080834.2	203	Gtc/Atc	0			1			A	V/I	uc002xes.1	protein_coding					607/1731										0	c.(607-609)GTC>ATC			PROSITE_profiles:PS50042,hmmpanther:PTHR23011:SF1,hmmpanther:PTHR23011,Gene3D:2.60.120.10,Pfam_domain:PF00027,SMART_domains:SM00100,Superfamily_domains:SSF51206	SubName: Full=C20orf152 protein;				ENSP00000363084		12-Jun	4.12E-05					7.49E-05			rs750702259,COSM1026325	12-Jun	.		ENST00000373973	Transcript						ENSG00000149646	g.chr20:34572591G>A	16145			MODERATE		0.44	neutral	getma.org/?cm=msa&ty=f&p=CT152_HUMAN&rb=134&re=221&var=V203I	getma.org/pdb.php?prot=CT152_HUMAN&from=134&to=221&var=V203I	getma.org/?cm=var&var=hg19,20,34572591,G,A&fts=all	V203I	--	--	1																																		C20orf152_uc002xer.1_Missense_Mutation_p.V203I|C20orf152_uc010gfp.1_RNA	0,1			possibly_damaging(0.814)	p.V203I				deleterious(0)	0,1	CNBD2_HUMAN	CNBD2	HGNC	Q96M20	CT152_HUMAN					6	763	+	Breast(12;0.00631)		UPI000004A83C	203			cNMP.		SNV	CNBD2,missense_variant,p.Val203Ile,ENST00000373973,;CNBD2,missense_variant,p.Val203Ile,ENST00000349339,NM_080834.2;CNBD2,missense_variant,p.Val203Ile,ENST00000538900,NM_001207076.1;CNBD2,3_prime_UTR_variant,,ENST00000463258,;	uc002xes.1	c.607G>A	780/1956	1	1			c.607G>A						20	SNP	c.(607-609)GTC>ATC	64	64				0	Broad	SubName: Full=C20orf152 protein;			34572591		0.527	ENSG00000149646	2049	g.chr20:34572591G>A										137.429686	KEEP	23	23	-1	42	38	23	23	-1	138.281857	42	38	0.40708	1	0	0	0	0	1	0	0	0	--	--		0	A			C20orf152_uc002xer.1_Missense_Mutation_p.V203I|C20orf152_uc010gfp.1_RNA	52	GBM-06-0219-TP	p.V203I	G	GTCCACCATCGTCTGTATGGA			34572591	Q96M20	CT152_HUMAN	0			6	763	+	A	A	Breast(12;0.00631)		Missense_Mutation	203			cNMP.			
CNBD2	0	broad.mit.edu	GRCh37	20	34560629	34560629	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs150690141	byFrequency	TCGA-14-1450-01	TCGA-14-1450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373973.3:c.130C>T	p.Arg44Trp	p.R44W	ENST00000373973		44	Cgg/Tgg	0	T:0		1			T	R/W	uc002xes.1	protein_coding					130/1731										0	c.(130-132)CGG>TGG			hmmpanther:PTHR23011:SF1,hmmpanther:PTHR23011	SubName: Full=C20orf152 protein;			T:0.0002	ENSP00000363084		12-Feb	0.000272	0.000192	0.000605			0.000315	0.0022	6.06E-05	rs150690141,COSM2759390	12-Feb	common_variant		ENST00000373973	Transcript						ENSG00000149646	g.chr20:34560629C>T	16145			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=CT152_HUMAN&rb=1&re=133&var=R44W	NA	getma.org/?cm=var&var=hg19,20,34560629,C,T&fts=all	R44W	--	--	1																																		C20orf152_uc002xer.1_Missense_Mutation_p.R44W|C20orf152_uc010gfp.1_RNA	0,1			probably_damaging(0.998)	p.R44W				deleterious(0.02)	0,1	CNBD2_HUMAN	CNBD2	HGNC	Q96M20	CT152_HUMAN					2	286	+	Breast(12;0.00631)		UPI000004A83C	44					SNV	CNBD2,missense_variant,p.Arg44Trp,ENST00000373973,;CNBD2,missense_variant,p.Arg44Trp,ENST00000349339,NM_080834.2;CNBD2,missense_variant,p.Arg44Trp,ENST00000538900,NM_001207076.1;CNBD2,missense_variant,p.Arg44Trp,ENST00000463258,;CNBD2,non_coding_transcript_exon_variant,,ENST00000489667,;	uc002xes.1	c.130C>T	303/1956	2	2			c.130C>T						20	SNP	c.(130-132)CGG>TGG	21	21				0	Broad	SubName: Full=C20orf152 protein;			34560629		0.443	ENSG00000149646	2049	g.chr20:34560629C>T										117.81829	KEEP	25	26	-1	56	53	25	26	-1	122.804346	56	53	0.306667	1	0	0	0	0	1	0	0	0	--	--		0	T			C20orf152_uc002xer.1_Missense_Mutation_p.R44W|C20orf152_uc010gfp.1_RNA	145	GBM-14-1450-TP	p.R44W	C	CAGGGGATTCCGGGAATATCA			34560629	Q96M20	CT152_HUMAN	0			2	286	+	T	T	Breast(12;0.00631)		Missense_Mutation	44						
CNDP1	0	broad.mit.edu	GRCh37	18	72226676	72226676	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01	TCGA-28-2509-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358821.3:c.272G>A	p.Arg91His	p.R91H	ENST00000358821	NM_032649.5	91	cGt/cAt	0			1			A	R/H	uc002llq.2	protein_coding	YES	CCDS12007.1			272/1524										0	c.(271-273)CGT>CAT			Gene3D:3.40.630.10,PIRSF_domain:PIRSF037242,hmmpanther:PTHR11014,hmmpanther:PTHR11014:SF58,Superfamily_domains:SSF53187	carnosinase 1 precursor				ENSP00000351682		12-Mar	1.65E-05					3.02E-05			rs750727146,COSM3403648	12-Mar	.		ENST00000358821	Transcript			proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	ENSG00000150656	g.chr18:72226676G>A	20675			MODERATE		0.145	neutral	getma.org/?cm=msa&ty=f&p=CNDP1_HUMAN&rb=1&re=127&var=R91H	getma.org/pdb.php?prot=CNDP1_HUMAN&from=1&to=127&var=R91H	getma.org/?cm=var&var=hg19,18,72226676,G,A&fts=all	R91H	--	--	1																																		uc002llr.2_RNA	0,1	1		benign(0.001)	p.R91H	NM_032649	NP_116038		deleterious(0.04)	0,1	CNDP1_HUMAN	CNDP1	HGNC	Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)			3	483	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	UPI0000141054	91					SNV	CNDP1,missense_variant,p.Arg48His,ENST00000582365,;CNDP1,missense_variant,p.Arg91His,ENST00000358821,NM_032649.5;RP11-231E4.3,downstream_gene_variant,,ENST00000583702,;CNDP1,non_coding_transcript_exon_variant,,ENST00000585136,;CNDP1,upstream_gene_variant,,ENST00000584316,;	uc002llq.2	c.272G>A	500/2215	1	1			c.272G>A						18	SNP	c.(271-273)CGT>CAT	59	59				0	Broad	carnosinase 1 precursor			72226676		0.632	ENSG00000150656	3530	g.chr18:72226676G>A	proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	Melanoma(32;1029 1042 25286 38395 44237)			Melanoma(32;1029 1042 25286 38395 44237)			72.365527	KEEP	13	21	-1	46	40	13	21	-1	75.970561	46	40	0.3	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002llr.2_RNA	211	GBM-28-2509-TP	p.R91H	G	CTGGGGGCCCGTGTGGCCTCG	NM_032649	NP_116038	72226676	Q96KN2	CNDP1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(31;0.109)	3	483	+	A	A		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	Missense_Mutation	91						
CNDP2	55748	broad.mit.edu	GRCh37	18	72178127	72178127	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5414-01	TCGA-06-5414-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324262.4:c.536C>T	p.Ala179Val	p.A179V	ENST00000324262	NM_018235.2	179	gCc/gTc	0			1			T	A/V	uc002llm.1	protein_coding	YES	CCDS12006.1			536/1428									ovary(2)|skin(1)	3	c.(535-537)GCC>GTC			hmmpanther:PTHR11014:SF51,hmmpanther:PTHR11014,Gene3D:3.40.630.10,Pfam_domain:PF01546,PIRSF_domain:PIRSF037242,Superfamily_domains:SSF53187	CNDP dipeptidase 2				ENSP00000325548		12-Jun									COSM3403647	12-Jun	.		ENST00000324262	Transcript				cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity	ENSG00000133313	g.chr18:72178127C>T	24437			MODERATE		2.035	medium	getma.org/?cm=msa&ty=f&p=CNDP2_HUMAN&rb=95&re=469&var=A179V	getma.org/pdb.php?prot=CNDP2_HUMAN&from=95&to=469&var=A179V	getma.org/?cm=var&var=hg19,18,72178127,C,T&fts=all	A179V	--	--	1																																		CNDP2_uc002lln.1_Missense_Mutation_p.A95V|CNDP2_uc010dqs.2_Missense_Mutation_p.A15V	1	1		benign(0.017)	p.A179V	NM_018235	NP_060705		tolerated(0.06)	1	CNDP2_HUMAN	CNDP2	HGNC	Q96KP4	CNDP2_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.22)	Q9NW02_HUMAN,J3QRD0_HUMAN,J3QR27_HUMAN,J3QQN6_HUMAN,J3QLU1_HUMAN,J3QKT2_HUMAN,J3QKQ0_HUMAN,J3KSV5_HUMAN,J3KSS4_HUMAN,J3KRD5_HUMAN,B4DV28_HUMAN		6	698	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	UPI00000463FE	179					SNV	CNDP2,missense_variant,p.Ala179Val,ENST00000324262,NM_018235.2;CNDP2,missense_variant,p.Ala179Val,ENST00000579847,;CNDP2,missense_variant,p.Ala95Val,ENST00000324301,NM_001168499.1;CNDP2,missense_variant,p.Ala6Val,ENST00000579624,;CNDP2,missense_variant,p.Ala179Val,ENST00000583785,;CNDP2,missense_variant,p.Ala161Val,ENST00000580672,;CNDP2,missense_variant,p.Ala95Val,ENST00000579583,;CNDP2,downstream_gene_variant,,ENST00000584613,;CNDP2,downstream_gene_variant,,ENST00000577600,;CNDP2,downstream_gene_variant,,ENST00000583216,;CNDP2,downstream_gene_variant,,ENST00000582666,;CNDP2,downstream_gene_variant,,ENST00000581513,;CNDP2,downstream_gene_variant,,ENST00000583203,;CNDP2,downstream_gene_variant,,ENST00000581272,;CNDP2,downstream_gene_variant,,ENST00000582589,;CNDP2,intron_variant,,ENST00000582620,;CNDP2,upstream_gene_variant,,ENST00000583695,;CNDP2,downstream_gene_variant,,ENST00000577355,;CNDP2,upstream_gene_variant,,ENST00000577669,;CNDP2,non_coding_transcript_exon_variant,,ENST00000584581,;CNDP2,non_coding_transcript_exon_variant,,ENST00000583938,;CNDP2,downstream_gene_variant,,ENST00000585263,;CNDP2,downstream_gene_variant,,ENST00000584768,;CNDP2,downstream_gene_variant,,ENST00000582260,;CNDP2,downstream_gene_variant,,ENST00000583399,;CNDP2,upstream_gene_variant,,ENST00000581600,;	uc002llm.1	c.536C>T	852/2804	2	2			c.536C>T						18	SNP	c.(535-537)GCC>GTC	31	31			ovary(2)|skin(1)	3	Broad	CNDP dipeptidase 2			72178127		0.527	ENSG00000133313	3531	g.chr18:72178127C>T		cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity							-34.132865	KEEP	1	3	-1	93	88	1	3	-1	6.765955	93	88	0.02454	1	0	0	0	0	1	0	0	0	--	--		0	T			CNDP2_uc002lln.1_Missense_Mutation_p.A95V|CNDP2_uc010dqs.2_Missense_Mutation_p.A15V	97	GBM-06-5414-TP	p.A179V	C	CTGATTTTTGCCCGGAAAGAC	NM_018235	NP_060705	72178127	Q96KP4	CNDP2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(31;0.22)	6	698	+	T	T		Esophageal squamous(42;0.131)|Prostate(75;0.173)	Missense_Mutation	179						
CNDP2	0	broad.mit.edu	GRCh37	18	72167228	72167228	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-41-4097-01	TCGA-41-4097-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324262.4:c.20T>C	p.Leu7Pro	p.L7P	ENST00000324262	NM_018235.2	7	cTg/cCg	0			1			C	L/P	uc002llm.1	protein_coding	YES	CCDS12006.1			20/1428									ovary(2)|skin(1)	3	c.(19-21)CTG>CCG			hmmpanther:PTHR11014:SF51,hmmpanther:PTHR11014,Gene3D:3.40.630.10,PIRSF_domain:PIRSF037242,Superfamily_domains:SSF53187	CNDP dipeptidase 2				ENSP00000325548		12-Feb									COSM3403646	12-Feb	.		ENST00000324262	Transcript				cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity	ENSG00000133313	g.chr18:72167228T>C	24437			MODERATE		2.985	medium	getma.org/?cm=msa&ty=f&p=CNDP2_HUMAN&rb=1&re=94&var=L7P	getma.org/pdb.php?prot=CNDP2_HUMAN&from=1&to=94&var=L7P	getma.org/?cm=var&var=hg19,18,72167228,T,C&fts=all	L7P	--	--	1																																		CNDP2_uc002lln.1_Missense_Mutation_p.L7P|CNDP2_uc002llo.2_Missense_Mutation_p.L7P	1	1		possibly_damaging(0.548)	p.L7P	NM_018235	NP_060705		deleterious(0)	1	CNDP2_HUMAN	CNDP2	HGNC	Q96KP4	CNDP2_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.22)	Q9NW02_HUMAN,J3QRD0_HUMAN,J3QR27_HUMAN,J3QQN6_HUMAN,J3QLU1_HUMAN,J3QKT2_HUMAN,J3QKQ0_HUMAN,J3KSV5_HUMAN,J3KSS4_HUMAN,J3KRD5_HUMAN,B4DV28_HUMAN		2	182	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	UPI00000463FE	7					SNV	CNDP2,missense_variant,p.Leu7Pro,ENST00000324262,NM_018235.2;CNDP2,missense_variant,p.Leu7Pro,ENST00000579847,;CNDP2,missense_variant,p.Leu7Pro,ENST00000324301,NM_001168499.1;CNDP2,missense_variant,p.Leu7Pro,ENST00000583785,;CNDP2,missense_variant,p.Leu7Pro,ENST00000584613,;CNDP2,missense_variant,p.Leu7Pro,ENST00000577600,;CNDP2,missense_variant,p.Leu7Pro,ENST00000583216,;CNDP2,missense_variant,p.Leu7Pro,ENST00000581513,;CNDP2,missense_variant,p.Leu7Pro,ENST00000583203,;CNDP2,missense_variant,p.Leu7Pro,ENST00000581912,;CNDP2,missense_variant,p.Leu7Pro,ENST00000581272,;CNDP2,missense_variant,p.Leu7Pro,ENST00000582589,;CNDP2,missense_variant,p.Leu7Pro,ENST00000579583,;CNDP2,intron_variant,,ENST00000580672,;CNDP2,upstream_gene_variant,,ENST00000582666,;CNDP2,non_coding_transcript_exon_variant,,ENST00000582620,;CNDP2,downstream_gene_variant,,ENST00000580229,;CNDP2,upstream_gene_variant,,ENST00000577355,;CNDP2,missense_variant,p.Leu7Pro,ENST00000582260,;CNDP2,non_coding_transcript_exon_variant,,ENST00000584768,;CNDP2,non_coding_transcript_exon_variant,,ENST00000583399,;	uc002llm.1	c.20T>C	336/2804	4	4			c.20T>C						18	SNP	c.(19-21)CTG>CCG	48	48			ovary(2)|skin(1)	3	Broad	CNDP dipeptidase 2			72167228		0.458	ENSG00000133313	3531	g.chr18:72167228T>C		cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity							76.840995	KEEP	15	16	-1	40	49	15	16	-1	80.522302	40	49	0.284091	1	0	0	0	0	1	0	0	0	--	--		0	C			CNDP2_uc002lln.1_Missense_Mutation_p.L7P|CNDP2_uc002llo.2_Missense_Mutation_p.L7P	257	GBM-41-4097-TP	p.L7P	T	CTCACTACCCTGTTTAAGTAC	NM_018235	NP_060705	72167228	Q96KP4	CNDP2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(31;0.22)	2	182	+	C	C		Esophageal squamous(42;0.131)|Prostate(75;0.173)	Missense_Mutation	7						
CNGA1	1259	broad.mit.edu	GRCh37	4	47939480	47939480	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs150374036	by1000genomes	TCGA-06-0174-01	TCGA-06-0174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000402813.3:c.1238G>A	p.Arg413His	p.R413H	ENST00000402813		413	cGt/cAt	0		T:0	1	T:0		T	R/H	uc003gxt.3	protein_coding		CCDS43226.1			1031/2073									ovary(2)	2	c.(1030-1032)CGT>CAT			Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF387,Superfamily_domains:SSF81324	cyclic nucleotide gated channel alpha 1 isoform		T:0.004		ENSP00000351320	T:0	9-Sep	0.0024	0.000103	0.00026	0.000348		3.00E-05	0.00111	0.017	rs150374036,COSM3409331	9-Sep	common_variant		ENST00000358519	Transcript	1	T:0.0038	response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	ENSG00000198515	g.chr4:47939480C>T	2148			MODERATE		2.3	medium	getma.org/?cm=msa&ty=f&p=CNGA1_HUMAN&rb=202&re=396&var=R344H	NA	getma.org/?cm=var&var=hg19,4,47939480,C,T&fts=all	R344H	--	--	1																																		uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.R413H	0,1			probably_damaging(0.981)	p.R344H	NM_000087	NP_000078	T:0.0153	deleterious(0.01)	0,1	CNGA1_HUMAN	CNGA1	HGNC	P29973	CNGA1_HUMAN			D6RCF1_HUMAN,D6R978_HUMAN		11	1297	-			UPI000013E808	344			Cytoplasmic (Potential).		SNV	CNGA1,missense_variant,p.Arg413His,ENST00000402813,;CNGA1,missense_variant,p.Arg344His,ENST00000544810,NM_001142564.1;CNGA1,missense_variant,p.Arg344His,ENST00000514170,;CNGA1,missense_variant,p.Arg344His,ENST00000420489,NM_000087.3;CNGA1,missense_variant,p.Arg344His,ENST00000358519,;NIPAL1,intron_variant,,ENST00000513724,;NIPAL1,intron_variant,,ENST00000500571,;	uc003gxt.3	c.1031G>A	1143/2627	2	2			c.1031G>A						4	SNP	c.(1030-1032)CGT>CAT	43	43			ovary(2)	2	Broad	cyclic nucleotide gated channel alpha 1 isoform			47939480		0.413	ENSG00000198515	3533	g.chr4:47939480C>T	response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity							370.430491	KEEP	67	61	-1	88	69	67	61	-1	370.837786	88	69	0.457364	1	0	0	0	0	1	0	0	0	--	--		0	T			uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.R413H	37	GBM-06-0174-TP	p.R344H	C	TCTAGCCAAACGGCCAAATTC	NM_000087	NP_000078	47939480	P29973	CNGA1_HUMAN	0			11	1297	-	T	T			Missense_Mutation	344			Cytoplasmic (Potential).			
CNGA1	0	broad.mit.edu	GRCh37	4	47938532	47938532	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-14-0817-01	TCGA-14-0817-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358519.4:c.1979C>A	p.Thr660Asn	p.T660N	ENST00000358519		660	aCc/aAc	0			1			T	T/N	uc003gxt.3	protein_coding		CCDS43226.1			1979/2073									ovary(2)	2	c.(1978-1980)ACC>AAC			hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF387	cyclic nucleotide gated channel alpha 1 isoform				ENSP00000351320		9-Sep									COSM2154831	9-Sep	.		ENST00000358519	Transcript	1		response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	ENSG00000198515	g.chr4:47938532G>T	2148			MODERATE		2.105	medium	getma.org/?cm=msa&ty=f&p=CNGA1_HUMAN&rb=591&re=690&var=T660N	getma.org/pdb.php?prot=CNGA1_HUMAN&from=591&to=690&var=T660N	getma.org/?cm=var&var=hg19,4,47938532,G,T&fts=all	T660N	--	--	1																																		uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.T729N	1			possibly_damaging(0.564)	p.T660N	NM_000087	NP_000078		tolerated(0.08)	1	CNGA1_HUMAN	CNGA1	HGNC	P29973	CNGA1_HUMAN			D6RCF1_HUMAN,D6R978_HUMAN		11	2245	-			UPI000013E808	660			Cytoplasmic (Potential).		SNV	CNGA1,missense_variant,p.Thr729Asn,ENST00000402813,;CNGA1,missense_variant,p.Thr660Asn,ENST00000544810,NM_001142564.1;CNGA1,missense_variant,p.Thr660Asn,ENST00000514170,;CNGA1,missense_variant,p.Thr660Asn,ENST00000420489,NM_000087.3;CNGA1,missense_variant,p.Thr660Asn,ENST00000358519,;NIPAL1,intron_variant,,ENST00000513724,;NIPAL1,intron_variant,,ENST00000500571,;	uc003gxt.3	c.1979C>A	2091/2627	1	1			c.1979C>A						4	SNP	c.(1978-1980)ACC>AAC	8	8			ovary(2)	2	Broad	cyclic nucleotide gated channel alpha 1 isoform			47938532		0.463	ENSG00000198515	3533	g.chr4:47938532G>T	response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity							231.193196	KEEP	38	42	0.475	83	53	38	42	0.475	234.048574	83	53	0.375	1	0	0	0	0	1	0	0	0	--	--		0	T			uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.T729N	139	GBM-14-0817-TP	p.T660N	G	CTCAACCTTGGTTAATCTTTG	NM_000087	NP_000078	47938532	P29973	CNGA1_HUMAN	0			11	2245	-	T	T			Missense_Mutation	660			Cytoplasmic (Potential).			
CNGA1	0	broad.mit.edu	GRCh37	4	47945299	47945299	+	synonymous_variant	Silent	SNP	T	T	A			TCGA-32-1977-01	TCGA-32-1977-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358519.4:c.348A>T	p.Ser116=	p.S116=	ENST00000358519		116	tcA/tcT	0			1			A	S	uc003gxt.3	protein_coding		CCDS43226.1			348/2073								p.S116*(1)	ovary(2)	2	c.(346-348)TCA>TCT			hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF387,Low_complexity_(Seg):seg	cyclic nucleotide gated channel alpha 1 isoform				ENSP00000351320		9-Jun									COSM3409332	9-Jun	.		ENST00000358519	Transcript	1		response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	ENSG00000198515	g.chr4:47945299T>A	2148			LOW								--	--	1																																		uc003gxr.1_Intron|CNGA1_uc003gxu.2_Silent_p.S185S|CNGA1_uc003gxv.1_Silent_p.S116S	1				p.S116S	NM_000087	NP_000078			1	CNGA1_HUMAN	CNGA1	HGNC	P29973	CNGA1_HUMAN			D6RCF1_HUMAN,D6R978_HUMAN		8	614	-			UPI000013E808	116			Cytoplasmic (Potential).		SNV	CNGA1,synonymous_variant,p.=,ENST00000402813,;CNGA1,synonymous_variant,p.=,ENST00000544810,NM_001142564.1;CNGA1,synonymous_variant,p.=,ENST00000514170,;CNGA1,synonymous_variant,p.=,ENST00000420489,NM_000087.3;CNGA1,synonymous_variant,p.=,ENST00000358519,;CNGA1,synonymous_variant,p.=,ENST00000504722,;NIPAL1,intron_variant,,ENST00000513724,;NIPAL1,intron_variant,,ENST00000500571,;CNGA1,non_coding_transcript_exon_variant,,ENST00000506118,;	uc003gxt.3	c.348A>T	460/2627	2	2			c.348A>T						4	SNP	c.(346-348)TCA>TCT	29	29		p.S116*(1)	ovary(2)	2	Broad	cyclic nucleotide gated channel alpha 1 isoform			47945299		0.189	ENSG00000198515	3533	g.chr4:47945299T>A	response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity							6.047292	KEEP	0	2	-1	3	2	0	2	-1	6.335593	3	2	0.285714	1	0	0	0	0	0	0	1	0	--	--		0	A			uc003gxr.1_Intron|CNGA1_uc003gxu.2_Silent_p.S185S|CNGA1_uc003gxv.1_Silent_p.S116S	229	GBM-32-1977-TP	p.S116S	T	TTTTATCATCTGACTTGCTGA	NM_000087	NP_000078	47945299	P29973	CNGA1_HUMAN	0			8	614	-	A	A			Silent	116			Cytoplasmic (Potential).			
CNGA2	1260	broad.mit.edu	GRCh37	X	150912487	150912487	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0876-01	TCGA-06-0876-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329903.4:c.1512T>A	p.Asp504Glu	p.D504E	ENST00000329903	NM_005140.1	504	gaT/gaA	0			1			A	D/E	uc004fey.1	protein_coding	YES	CCDS14701.1			1512/1995									breast(3)	3	c.(1510-1512)GAT>GAA			PROSITE_profiles:PS50042,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF389,Pfam_domain:PF00027,Gene3D:2.60.120.10,SMART_domains:SM00100,Superfamily_domains:SSF51206	cyclic nucleotide gated channel alpha 2				ENSP00000328478		6-Jun									COSM2152073	6-Jun	.		ENST00000329903	Transcript			response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	ENSG00000183862	g.chrX:150912487T>A	2149			MODERATE		0.73	neutral	getma.org/?cm=msa&ty=f&p=CNGA2_HUMAN&rb=472&re=565&var=D504E	getma.org/pdb.php?prot=CNGA2_HUMAN&from=472&to=565&var=D504E	getma.org/?cm=var&var=hg19,X,150912487,T,A&fts=all	D504E	--	--	1																																			1	1		benign(0.128)	p.D504E	NM_005140	NP_005131		tolerated(0.12)	1	CNGA2_HUMAN	CNGA2	HGNC	Q16280	CNGA2_HUMAN					7	1736	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000003E7AE	504			cAMP (By similarity).|Cytoplasmic (Potential).		SNV	CNGA2,missense_variant,p.Asp504Glu,ENST00000329903,NM_005140.1;	uc004fey.1	c.1512T>A	1545/2834	1	1			c.1512T>A						23	SNP	c.(1510-1512)GAT>GAA	53	53			breast(3)	3	Broad	cyclic nucleotide gated channel alpha 2			150912487		0.398	ENSG00000183862	3534	g.chrX:150912487T>A	response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity							77.925502	KEEP	27	9	-1	49	26	27	9	-1	80.362603	49	26	0.317073	1	0	0	0	0	1	0	0	0	--	--		0	A				72	GBM-06-0876-TP	p.D504E	T	TGGTGGCTGATGATGGTGTGA	NM_005140	NP_005131	150912487	Q16280	CNGA2_HUMAN	0			7	1736	+	A	A	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	504			cAMP (By similarity).|Cytoplasmic (Potential).			
CNGA4	1262	broad.mit.edu	GRCh37	11	6261559	6261559	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01	TCGA-06-5408-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379936.2:c.535G>A	p.Val179Ile	p.V179I	ENST00000379936	NM_001037329.3	179	Gtc/Atc	0			1			A	V/I	uc001mco.2	protein_coding	YES	CCDS31408.1			535/1728									skin(1)	1	c.(535-537)GTC>ATC			Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF388,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix	cyclic nucleotide gated channel alpha 4				ENSP00000369268		6-Apr									COSM1248537	6-Apr	.		ENST00000379936	Transcript			response to stimulus|sensory perception of smell		cAMP binding	ENSG00000132259	g.chr11:6261559G>A	2152			MODERATE		-1.915	neutral	getma.org/?cm=msa&ty=f&p=CNGA4_HUMAN&rb=71&re=265&var=V179I	NA	getma.org/?cm=var&var=hg19,11,6261559,G,A&fts=all	V179I	--	--	1																																		CNGA4_uc010raa.1_Intron|CNGA4_uc001mcn.2_Missense_Mutation_p.V139I	1	1		benign(0.387)	p.V179I	NM_001037329	NP_001032406		tolerated(1)	1	CNGA4_HUMAN	CNGA4	HGNC	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)			4	642	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	UPI000004C7EC	179			Helical; Name=H4; (Potential).		SNV	CNGA4,missense_variant,p.Val179Ile,ENST00000379936,NM_001037329.3;CNGA4,intron_variant,,ENST00000533426,;	uc001mco.2	c.535G>A	650/1863	2	2			c.535G>A						11	SNP	c.(535-537)GTC>ATC	29	29			skin(1)	1	Broad	cyclic nucleotide gated channel alpha 4			6261559		0.597	ENSG00000132259	3536	g.chr11:6261559G>A	response to stimulus|sensory perception of smell		cAMP binding							163.921529	KEEP	27	37	-1	56	49	27	37	-1	166.371209	56	49	0.365385	1	0	0	0	0	1	0	0	0	--	--		0	A			CNGA4_uc010raa.1_Intron|CNGA4_uc001mcn.2_Missense_Mutation_p.V139I	92	GBM-06-5408-TP	p.V179I	G	CATTTTTGTCGTCATCCATTG	NM_001037329	NP_001032406	6261559	Q8IV77	CNGA4_HUMAN	0		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	642	+	A	A		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	Missense_Mutation	179			Helical; Name=H4; (Potential).			
CNGB1	1258	broad.mit.edu	GRCh37	16	57993926	57993926	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0216-01	TCGA-06-0216-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251102.8:c.627C>T	p.Ala209=	p.A209=	ENST00000251102	NM_001297.4	209	gcC/gcT	0			1			A	A	uc002emt.2	protein_coding	YES	CCDS42169.1			627/3756									breast(3)|pancreas(1)	4	c.(625-627)GCC>GCT				cyclic nucleotide gated channel beta 1 isoform				ENSP00000251102		Oct-33									COSM3402389	Oct-33	.		ENST00000251102	Transcript	1		sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	ENSG00000070729	g.chr16:57993926G>A	2151			LOW								--	--	1																																		CNGB1_uc010cdh.2_Silent_p.A203A|CNGB1_uc002emu.2_Silent_p.A209A	1	1			p.A209A	NM_001297	NP_001288			1	CNGB1_HUMAN	CNGB1	HGNC	Q14028	CNGB1_HUMAN			H3BQC3_HUMAN		10	692	-			UPI000013CCDF	209			Pro-rich.		SNV	CNGB1,synonymous_variant,p.=,ENST00000564448,NM_001286130.1;CNGB1,synonymous_variant,p.=,ENST00000251102,NM_001297.4;CNGB1,synonymous_variant,p.=,ENST00000311183,NM_001135639.1;CNGB1,synonymous_variant,p.=,ENST00000562761,;CNGB1,downstream_gene_variant,,ENST00000567568,;	uc002emt.2	c.627C>T	688/4179	2	2			c.627C>T						16	SNP	c.(625-627)GCC>GCT	42	42			breast(3)|pancreas(1)	4	Broad	cyclic nucleotide gated channel beta 1 isoform			57993926		0.687	ENSG00000070729	3537	g.chr16:57993926G>A	sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	Colon(156;1293 1853 16336 28962 38659)			Colon(156;1293 1853 16336 28962 38659)			11.097204	KEEP	5	1	-1	4	3	5	1	-1	11.184879	4	3	0.4	1	0	0	0	0	0	0	1	0	--	--		0	A			CNGB1_uc010cdh.2_Silent_p.A203A|CNGB1_uc002emu.2_Silent_p.A209A	51	GBM-06-0216-TP	p.A209A	G	GGGTCTCCCGGGCCTGCAGCT	NM_001297	NP_001288	57993926	Q14028	CNGB1_HUMAN	0			10	692	-	A	A			Silent	209			Pro-rich.			
CNGB1	0	broad.mit.edu	GRCh37	16	57918280	57918280	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01	TCGA-28-2514-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251102.8:c.3544G>A	p.Asp1182Asn	p.D1182N	ENST00000251102	NM_001297.4	1182	Gac/Aac	0			1			T	D/N	uc002emt.2	protein_coding	YES	CCDS42169.1			3544/3756									breast(3)|pancreas(1)	4	c.(3544-3546)GAC>AAC			hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF386,Low_complexity_(Seg):seg	cyclic nucleotide gated channel beta 1 isoform				ENSP00000251102		33/33									COSM416959	33/33	.		ENST00000251102	Transcript	1		sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	ENSG00000070729	g.chr16:57918280C>T	2151			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CNGB1_HUMAN&rb=1072&re=1251&var=D1182N	NA	getma.org/?cm=var&var=hg19,16,57918280,C,T&fts=all	D1182N	--	--	1																																		CNGB1_uc010cdh.2_Missense_Mutation_p.D1176N	1	1		benign(0.016)	p.D1182N	NM_001297	NP_001288		tolerated(0.1)	1	CNGB1_HUMAN	CNGB1	HGNC	Q14028	CNGB1_HUMAN			H3BQC3_HUMAN		33	3609	-			UPI000013CCDF	1182			Cytoplasmic (Potential).		SNV	CNGB1,missense_variant,p.Asp1176Asn,ENST00000564448,NM_001286130.1;CNGB1,missense_variant,p.Asp1182Asn,ENST00000251102,NM_001297.4;CNGB1,synonymous_variant,p.=,ENST00000565942,;	uc002emt.2	c.3544G>A	3605/4179	2	2			c.3544G>A						16	SNP	c.(3544-3546)GAC>AAC	20	20			breast(3)|pancreas(1)	4	Broad	cyclic nucleotide gated channel beta 1 isoform			57918280		0.721	ENSG00000070729	3537	g.chr16:57918280C>T	sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	Colon(156;1293 1853 16336 28962 38659)			Colon(156;1293 1853 16336 28962 38659)			45.296227	KEEP	4	13	-1	12	13	4	13	-1	45.352012	12	13	0.457143	1	0	0	0	0	1	0	0	0	--	--		0	T			CNGB1_uc010cdh.2_Missense_Mutation_p.D1176N	214	GBM-28-2514-TP	p.D1182N	C	GCGGGTGGGTCGGTGGCGGCC	NM_001297	NP_001288	57918280	Q14028	CNGB1_HUMAN	0			33	3609	-	T	T			Missense_Mutation	1182			Cytoplasmic (Potential).			
CNGB1	1258		GRCh37	16	57992360	57992360	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000251102.8:c.791A>G	p.Glu264Gly	p.E264G	ENST00000251102	NM_001297.4	264	gAg/gGg	0																																																																																																																																																																																																																																												
CNGB3	54714		GRCh37	8	87666239	87666239	+	splice_donor_variant	Splice_Site	SNP	C	C	T			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000320005.5:c.903+1G>A		p.X301_splice	ENST00000320005	NM_019098.4	301		0																																																																																																																																																																																																																																												
CNKSR1	10256	broad.mit.edu	GRCh37	1	26507077	26507077	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2557-01	TCGA-06-2557-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361530.6:c.186C>T	p.Gly62=	p.G62=	ENST00000361530		62	ggC/ggT	0	T:0.0011	T:0.0008	1	T:0		T	G	uc001bln.3	protein_coding					186/2163									lung(1)|kidney(1)	2	c.(184-186)GGC>GGT			Gene3D:1.10.150.50,Pfam_domain:PF00536,PROSITE_profiles:PS50105,hmmpanther:PTHR12844,hmmpanther:PTHR12844:SF10,SMART_domains:SM00454,Superfamily_domains:SSF47769	connector enhancer of kinase suppressor of Ras		T:0	T:0	ENSP00000363371	T:0	21-Feb	0.000148	0.000776	0.000173			7.53E-05		0.000182	rs200570653,COSM2152536	21-Feb	common_variant		ENST00000374253	Transcript		T:0.0002	Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	ENSG00000142675	g.chr1:26507077C>T	19700			LOW								--	--	1																																		CNKSR1_uc010oex.1_RNA|CNKSR1_uc001blm.3_Silent_p.G62G|CNKSR1_uc009vsd.2_5'UTR|CNKSR1_uc009vse.2_5'UTR|CNKSR1_uc001blo.2_5'UTR	0,1				p.G62G	NM_006314	NP_006305	T:0		0,1	CNKR1_HUMAN	CNKSR1	HGNC	Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	G3V160_HUMAN		2	244	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	UPI0000070054	62			SAM.		SNV	CNKSR1,synonymous_variant,p.=,ENST00000361530,;CNKSR1,synonymous_variant,p.=,ENST00000374253,NM_006314.2;CNKSR1,5_prime_UTR_variant,,ENST00000531191,;CNKSR1,non_coding_transcript_exon_variant,,ENST00000480348,;CNKSR1,upstream_gene_variant,,ENST00000528001,;CNKSR1,missense_variant,p.Ala56Val,ENST00000481077,;CNKSR1,synonymous_variant,p.=,ENST00000482227,;CNKSR1,synonymous_variant,p.=,ENST00000525687,;CNKSR1,non_coding_transcript_exon_variant,,ENST00000465415,;CNKSR1,upstream_gene_variant,,ENST00000528281,;CNKSR1,upstream_gene_variant,,ENST00000531150,;CNKSR1,upstream_gene_variant,,ENST00000524529,;	uc001bln.3	c.186C>T	225/2538	2	2			c.186C>T						1	SNP	c.(184-186)GGC>GGT	44	44			lung(1)|kidney(1)	2	Broad	connector enhancer of kinase suppressor of Ras			26507077		0.657	ENSG00000142675	3543	g.chr1:26507077C>T	Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	NSCLC(180;1396 2109 28270 30756 34275)			NSCLC(180;1396 2109 28270 30756 34275)			284.40476	KEEP	45	47	-1	31	44	45	47	-1	284.96072	31	44	0.563291	1	0	0	0	0	0	0	1	0	--	--		0	T			CNKSR1_uc010oex.1_RNA|CNKSR1_uc001blm.3_Silent_p.G62G|CNKSR1_uc009vsd.2_5'UTR|CNKSR1_uc009vse.2_5'UTR|CNKSR1_uc001blo.2_5'UTR	81	GBM-06-2557-TP	p.G62G	C	TCATCCTGGGCGGGGTGGAAC	NM_006314	NP_006305	26507077	Q969H4	CNKR1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	2	244	+	T	T		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	Silent	62			SAM.			
CNKSR1	10256	broad.mit.edu	GRCh37	1	26507045	26507045	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01	TCGA-06-2558-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361530.6:c.154C>T	p.Arg52Trp	p.R52W	ENST00000361530		52	Cgg/Tgg	0			1			T	R/W	uc001bln.3	protein_coding					154/2163									lung(1)|kidney(1)	2	c.(154-156)CGG>TGG			Gene3D:1.10.150.50,Pfam_domain:PF00536,PROSITE_profiles:PS50105,hmmpanther:PTHR12844,hmmpanther:PTHR12844:SF10,SMART_domains:SM00454,Superfamily_domains:SSF47769	connector enhancer of kinase suppressor of Ras				ENSP00000363371		21-Feb	8.24E-06							6.06E-05	rs201898585,COSM3400636	21-Feb	.		ENST00000374253	Transcript			Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	ENSG00000142675	g.chr1:26507045C>T	19700			MODERATE		-0.235	neutral	getma.org/?cm=msa&ty=f&p=CNKR1_HUMAN&rb=5&re=68&var=R52W	getma.org/pdb.php?prot=CNKR1_HUMAN&from=5&to=68&var=R52W	getma.org/?cm=var&var=hg19,1,26507045,C,T&fts=all	R52W	--	--	1																																		CNKSR1_uc010oex.1_RNA|CNKSR1_uc001blm.3_Missense_Mutation_p.R52W|CNKSR1_uc009vsd.2_5'UTR|CNKSR1_uc009vse.2_5'UTR|CNKSR1_uc001blo.2_5'UTR	0,1			benign(0.005)	p.R52W	NM_006314	NP_006305		tolerated(0.11)	0,1	CNKR1_HUMAN	CNKSR1	HGNC	Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	G3V160_HUMAN		2	212	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	UPI0000070054	52			SAM.		SNV	CNKSR1,missense_variant,p.Arg52Trp,ENST00000361530,;CNKSR1,missense_variant,p.Arg52Trp,ENST00000374253,NM_006314.2;CNKSR1,5_prime_UTR_variant,,ENST00000531191,;CNKSR1,non_coding_transcript_exon_variant,,ENST00000480348,;CNKSR1,upstream_gene_variant,,ENST00000528001,;CNKSR1,missense_variant,p.Arg52Trp,ENST00000482227,;CNKSR1,missense_variant,p.Arg52Trp,ENST00000525687,;CNKSR1,synonymous_variant,p.=,ENST00000481077,;CNKSR1,non_coding_transcript_exon_variant,,ENST00000465415,;CNKSR1,upstream_gene_variant,,ENST00000528281,;CNKSR1,upstream_gene_variant,,ENST00000531150,;CNKSR1,upstream_gene_variant,,ENST00000524529,;	uc001bln.3	c.154C>T	193/2538	1	1			c.154C>T						1	SNP	c.(154-156)CGG>TGG	8	8			lung(1)|kidney(1)	2	Broad	connector enhancer of kinase suppressor of Ras			26507045		0.622	ENSG00000142675	3543	g.chr1:26507045C>T	Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	NSCLC(180;1396 2109 28270 30756 34275)			NSCLC(180;1396 2109 28270 30756 34275)			-34.327457	KEEP	2	3	-1	66	110	2	3	-1	7.429737	66	110	0.024096	1	0	0	0	0	1	0	0	0	--	--		0	T			CNKSR1_uc010oex.1_RNA|CNKSR1_uc001blm.3_Missense_Mutation_p.R52W|CNKSR1_uc009vsd.2_5'UTR|CNKSR1_uc009vse.2_5'UTR|CNKSR1_uc001blo.2_5'UTR	82	GBM-06-2558-TP	p.R52W	C	TCTGGCTGTGCGGTCTCTGGG	NM_006314	NP_006305	26507045	Q969H4	CNKR1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	2	212	+	T	T		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	Missense_Mutation	52			SAM.			
CNKSR1	0	broad.mit.edu	GRCh37	1	26515154	26515154	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0821-01	TCGA-12-0821-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374253.5:c.1677G>A	p.Gln559=	p.Q559=	ENST00000374253	NM_006314.2	559	caG/caA	0			1			A	Q	uc001bln.3	protein_coding					1677/2163									lung(1)|kidney(1)	2	c.(1675-1677)CAG>CAA			hmmpanther:PTHR12844,hmmpanther:PTHR12844:SF10	connector enhancer of kinase suppressor of Ras				ENSP00000363371		19/21									COSM3400637	19/21	.		ENST00000374253	Transcript			Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	ENSG00000142675	g.chr1:26515154G>A	19700			LOW								--	--	1																																		CNKSR1_uc001blm.3_Silent_p.Q552Q|CNKSR1_uc009vsd.2_Silent_p.Q294Q|CNKSR1_uc009vse.2_Silent_p.Q294Q|CNKSR1_uc001blo.2_Silent_p.Q294Q|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.1_5'Flank|CATSPER4_uc009vsf.2_5'Flank	1				p.Q559Q	NM_006314	NP_006305			1	CNKR1_HUMAN	CNKSR1	HGNC	Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	G3V160_HUMAN		19	1735	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	UPI0000070054	559					SNV	CNKSR1,synonymous_variant,p.=,ENST00000531191,;CNKSR1,synonymous_variant,p.=,ENST00000361530,;CNKSR1,synonymous_variant,p.=,ENST00000374253,NM_006314.2;CATSPER4,upstream_gene_variant,,ENST00000456354,NM_198137.1;CATSPER4,upstream_gene_variant,,ENST00000338855,;CNKSR1,downstream_gene_variant,,ENST00000528001,;CNKSR1,3_prime_UTR_variant,,ENST00000482227,;CNKSR1,non_coding_transcript_exon_variant,,ENST00000484874,;CATSPER4,upstream_gene_variant,,ENST00000518899,;CNKSR1,downstream_gene_variant,,ENST00000525687,;CNKSR1,downstream_gene_variant,,ENST00000481077,;CNKSR1,downstream_gene_variant,,ENST00000528281,;CNKSR1,downstream_gene_variant,,ENST00000531150,;CNKSR1,downstream_gene_variant,,ENST00000480617,;	uc001bln.3	c.1677G>A	1716/2538	2	2			c.1677G>A						1	SNP	c.(1675-1677)CAG>CAA	29	29			lung(1)|kidney(1)	2	Broad	connector enhancer of kinase suppressor of Ras			26515154		0.647	ENSG00000142675	3543	g.chr1:26515154G>A	Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	NSCLC(180;1396 2109 28270 30756 34275)			NSCLC(180;1396 2109 28270 30756 34275)			146.319032	KEEP	32	22	-1	38	37	32	22	-1	146.8598	38	37	0.42735	1	0	0	0	0	0	0	1	0	--	--		0	A			CNKSR1_uc001blm.3_Silent_p.Q552Q|CNKSR1_uc009vsd.2_Silent_p.Q294Q|CNKSR1_uc009vse.2_Silent_p.Q294Q|CNKSR1_uc001blo.2_Silent_p.Q294Q|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.1_5'Flank|CATSPER4_uc009vsf.2_5'Flank	123	GBM-12-0821-TP	p.Q559Q	G	CCCCCACACAGCGCAGCCCAC	NM_006314	NP_006305	26515154	Q969H4	CNKR1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	19	1735	+	A	A		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	Silent	559						
CNKSR1	0	broad.mit.edu	GRCh37	1	26507077	26507077	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-15-0742-01	TCGA-15-0742-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374253.5:c.186C>T	p.Gly62=	p.G62=	ENST00000374253	NM_006314.2	62	ggC/ggT	0	T:0.0011	T:0.0008	1	T:0		T	G	uc001bln.3	protein_coding					186/2163									lung(1)|kidney(1)	2	c.(184-186)GGC>GGT			Gene3D:1.10.150.50,Pfam_domain:PF00536,PROSITE_profiles:PS50105,hmmpanther:PTHR12844,hmmpanther:PTHR12844:SF10,SMART_domains:SM00454,Superfamily_domains:SSF47769	connector enhancer of kinase suppressor of Ras		T:0	T:0	ENSP00000363371	T:0	21-Feb	0.000148	0.000776	0.000173			7.53E-05		0.000182	rs200570653,COSM2152536	21-Feb	common_variant		ENST00000374253	Transcript		T:0.0002	Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	ENSG00000142675	g.chr1:26507077C>T	19700			LOW								--	--	1																																		CNKSR1_uc010oex.1_RNA|CNKSR1_uc001blm.3_Silent_p.G62G|CNKSR1_uc009vsd.2_5'UTR|CNKSR1_uc009vse.2_5'UTR|CNKSR1_uc001blo.2_5'UTR	0,1				p.G62G	NM_006314	NP_006305	T:0		0,1	CNKR1_HUMAN	CNKSR1	HGNC	Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	G3V160_HUMAN		2	244	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	UPI0000070054	62			SAM.		SNV	CNKSR1,synonymous_variant,p.=,ENST00000361530,;CNKSR1,synonymous_variant,p.=,ENST00000374253,NM_006314.2;CNKSR1,5_prime_UTR_variant,,ENST00000531191,;CNKSR1,non_coding_transcript_exon_variant,,ENST00000480348,;CNKSR1,upstream_gene_variant,,ENST00000528001,;CNKSR1,missense_variant,p.Ala56Val,ENST00000481077,;CNKSR1,synonymous_variant,p.=,ENST00000482227,;CNKSR1,synonymous_variant,p.=,ENST00000525687,;CNKSR1,non_coding_transcript_exon_variant,,ENST00000465415,;CNKSR1,upstream_gene_variant,,ENST00000528281,;CNKSR1,upstream_gene_variant,,ENST00000531150,;CNKSR1,upstream_gene_variant,,ENST00000524529,;	uc001bln.3	c.186C>T	225/2538	2	2			c.186C>T						1	SNP	c.(184-186)GGC>GGT	44	44			lung(1)|kidney(1)	2	Broad	connector enhancer of kinase suppressor of Ras			26507077		0.657	ENSG00000142675	3543	g.chr1:26507077C>T	Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	NSCLC(180;1396 2109 28270 30756 34275)			NSCLC(180;1396 2109 28270 30756 34275)			194.23902	KEEP	32	40	-1	41	45	32	40	-1	194.590227	41	45	0.446043	1	0	0	0	0	0	0	1	0	--	--		0	T			CNKSR1_uc010oex.1_RNA|CNKSR1_uc001blm.3_Silent_p.G62G|CNKSR1_uc009vsd.2_5'UTR|CNKSR1_uc009vse.2_5'UTR|CNKSR1_uc001blo.2_5'UTR	153	GBM-15-0742-TP	p.G62G	C	TCATCCTGGGCGGGGTGGAAC	NM_006314	NP_006305	26507077	Q969H4	CNKR1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	2	244	+	T	T		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	Silent	62			SAM.			
CNKSR2	22866	broad.mit.edu	GRCh37	X	21670464	21670464	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0145-01	TCGA-06-0145-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379510.3:c.2930A>G	p.Asp977Gly	p.D977G	ENST00000379510	NM_014927.3	977	gAc/gGc	0			1			G	D/G	uc004czx.1	protein_coding	YES	CCDS14198.1			2930/3105									large_intestine(1)|lung(1)	2	c.(2929-2931)GAC>GGC			hmmpanther:PTHR12844,hmmpanther:PTHR12844:SF21	connector enhancer of kinase suppressor of Ras				ENSP00000368824		22/22	8.24E-06		0.000108						rs773692431,COSM2149699	22/22	.		ENST00000379510	Transcript	1		regulation of signal transduction	cytoplasm|membrane	protein binding	ENSG00000149970	g.chrX:21670464A>G	19701			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=CNKR2_HUMAN&rb=870&re=1034&var=D977G	NA	getma.org/?cm=var&var=hg19,X,21670464,A,G&fts=all	D977G	--	--	1																																		CNKSR2_uc011mjo.1_Missense_Mutation_p.D947G	0,1	1		benign(0.066)	p.D977G	NM_014927	NP_055742		deleterious(0.03)	0,1	CNKR2_HUMAN	CNKSR2	HGNC	Q8WXI2	CNKR2_HUMAN					22	2966	+			UPI0000070D72	977					SNV	CNKSR2,missense_variant,p.Asp947Gly,ENST00000425654,NM_001168647.1;CNKSR2,missense_variant,p.Asp977Gly,ENST00000379510,NM_014927.3;KLHL34,downstream_gene_variant,,ENST00000379499,NM_153270.1;	uc004czx.1	c.2930A>G	2966/5315	3	3			c.2930A>G						23	SNP	c.(2929-2931)GAC>GGC	51	51			large_intestine(1)|lung(1)	2	Broad	connector enhancer of kinase suppressor of Ras			21670464		0.378	ENSG00000149970	3544	g.chrX:21670464A>G	regulation of signal transduction	cytoplasm|membrane	protein binding							171.334181	KEEP	34	23	-1	51	51	34	23	-1	173.840676	51	51	0.357143	1	0	0	0	0	1	0	0	0	--	--		0	G			CNKSR2_uc011mjo.1_Missense_Mutation_p.D947G	23	GBM-06-0145-TP	p.D977G	A	AAAGTCCTAGACAATCCAGAC	NM_014927	NP_055742	21670464	Q8WXI2	CNKR2_HUMAN	0			22	2966	+	G	G			Missense_Mutation	977						
CNKSR2	22866	broad.mit.edu	GRCh37	X	21450738	21450739	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-06-2565-01	TCGA-06-2565-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379510.3:c.239dup	p.Leu80PhefsTer34	p.L80Ffs*34	ENST00000379510	NM_014927.3	79	-/T	0			1			T	-/X	uc004czx.1	protein_coding	YES	CCDS14198.1			237-238/3105									large_intestine(1)|lung(1)	2	c.(235-240)GGCTTGfs			hmmpanther:PTHR12844,hmmpanther:PTHR12844:SF21,Superfamily_domains:SSF47769	connector enhancer of kinase suppressor of Ras				ENSP00000368824		22-Mar									1KG_X_21450738,COSM1490782	22-Mar	.		ENST00000379510	Transcript	1		regulation of signal transduction	cytoplasm|membrane	protein binding	ENSG00000149970	g.chrX:21450738_21450739insT	19701	2		HIGH								--	--	1																																		CNKSR2_uc004czw.2_Frame_Shift_Ins_p.G79fs|CNKSR2_uc011mjn.1_Frame_Shift_Ins_p.G79fs|CNKSR2_uc011mjo.1_Frame_Shift_Ins_p.G79fs	0,1	1			p.G79fs	NM_014927	NP_055742			0,1	CNKR2_HUMAN	CNKSR2	HGNC	Q8WXI2	CNKR2_HUMAN					3	273_274	+			UPI0000070D72	79_80					insertion	CNKSR2,frameshift_variant,p.Leu80PhefsTer34,ENST00000425654,NM_001168647.1;CNKSR2,frameshift_variant,p.Leu80PhefsTer34,ENST00000379510,NM_014927.3;CNKSR2,frameshift_variant,p.Leu80PhefsTer34,ENST00000279451,NM_001168648.1;CNKSR2,frameshift_variant,p.Leu80PhefsTer34,ENST00000543067,NM_001168649.1;CNKSR2,upstream_gene_variant,,ENST00000480138,;	uc004czx.1	c.237_238insT	273-274/5315	5	5			c.237_238insT						23	INS	c.(235-240)GGCTTGfs	34	34			large_intestine(1)|lung(1)	2	Broad	connector enhancer of kinase suppressor of Ras			21450739		0.243	ENSG00000149970	3544	g.chrX:21450738_21450739insT	regulation of signal transduction	cytoplasm|membrane	protein binding																				0.05	1	0	0	1	1	0	0	0	0	--	--		0	T			CNKSR2_uc004czw.2_Frame_Shift_Ins_p.G79fs|CNKSR2_uc011mjn.1_Frame_Shift_Ins_p.G79fs|CNKSR2_uc011mjo.1_Frame_Shift_Ins_p.G79fs	88	GBM-06-2565-TP	p.G79fs	-	AGAATTATGGCTTGGAAACAGA	NM_014927	NP_055742	21450738	Q8WXI2	CNKR2_HUMAN	0			3	273_274	+	T	T			Frame_Shift_Ins	79_80						
CNKSR2	22866	broad.mit.edu	GRCh37	X	21508621	21508621	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-5414-01	TCGA-06-5414-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379510.3:c.606G>T	p.Ser202=	p.S202=	ENST00000379510	NM_014927.3	202	tcG/tcT	0			1			T	S	uc004czx.1	protein_coding	YES	CCDS14198.1			606/3105									large_intestine(1)|lung(1)	2	c.(604-606)TCG>TCT			hmmpanther:PTHR12844,hmmpanther:PTHR12844:SF21,Superfamily_domains:SSF50156	connector enhancer of kinase suppressor of Ras				ENSP00000368824		22-Jun									COSM3406224,COSM3406225	22-Jun	.		ENST00000379510	Transcript	1		regulation of signal transduction	cytoplasm|membrane	protein binding	ENSG00000149970	g.chrX:21508621G>T	19701			LOW								--	--	1																																		CNKSR2_uc004czw.2_Silent_p.S202S|CNKSR2_uc011mjn.1_Silent_p.S202S|CNKSR2_uc011mjo.1_Silent_p.S202S	1,1	1			p.S202S	NM_014927	NP_055742			1,1	CNKR2_HUMAN	CNKSR2	HGNC	Q8WXI2	CNKR2_HUMAN					6	642	+			UPI0000070D72	202					SNV	CNKSR2,synonymous_variant,p.=,ENST00000425654,NM_001168647.1;CNKSR2,synonymous_variant,p.=,ENST00000379510,NM_014927.3;CNKSR2,synonymous_variant,p.=,ENST00000279451,NM_001168648.1;CNKSR2,synonymous_variant,p.=,ENST00000543067,NM_001168649.1;CNKSR2,non_coding_transcript_exon_variant,,ENST00000479158,;	uc004czx.1	c.606G>T	642/5315	1	1			c.606G>T						23	SNP	c.(604-606)TCG>TCT	4	4			large_intestine(1)|lung(1)	2	Broad	connector enhancer of kinase suppressor of Ras			21508621		0.398	ENSG00000149970	3544	g.chrX:21508621G>T	regulation of signal transduction	cytoplasm|membrane	protein binding							-3.21848	KEEP	3	3	0.5	57	39	3	3	0.5	15.104277	57	39	0.064516	1	0	0	0	0	0	0	1	0	--	--		0	T			CNKSR2_uc004czw.2_Silent_p.S202S|CNKSR2_uc011mjn.1_Silent_p.S202S|CNKSR2_uc011mjo.1_Silent_p.S202S	97	GBM-06-5414-TP	p.S202S	G	TATCCCTGTCGTCAGATCCTC	NM_014927	NP_055742	21508621	Q8WXI2	CNKR2_HUMAN	0			6	642	+	T	T			Silent	202						
CNKSR3	0	broad.mit.edu	GRCh37	6	154743668	154743668	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-27-1835-01	TCGA-27-1835-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000607772.1:c.917delA	p.Asn306ThrfsTer29	p.N306Tfs*29	ENST00000607772	NM_173515.2	306	aAc/ac	0			1			-	N/X	uc003qpy.2	protein_coding	YES	CCDS5246.1			917/1668									ovary(2)|breast(1)|skin(1)	4	c.(916-918)AACfs			hmmpanther:PTHR12844,hmmpanther:PTHR12844:SF19	CNKSR family member 3				ENSP00000475915		13-Sep										13-Sep	.		ENST00000607772	Transcript			negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		ENSG00000153721	g.chr6:154743668delT	23034			HIGH								--	--	1																																				1			p.N306fs	NM_173515	NP_775786				CNKR3_HUMAN	CNKSR3	HGNC	Q6P9H4	CNKR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)	C9JN62_HUMAN,C9IZX4_HUMAN		9	1422	-		Ovarian(120;0.196)	UPI000020D0EA	306					deletion	CNKSR3,frameshift_variant,p.Asn306ThrfsTer29,ENST00000607772,NM_173515.2;CNKSR3,frameshift_variant,p.Asn131ThrfsTer29,ENST00000433165,;CNKSR3,frameshift_variant,p.Asn226ThrfsTer29,ENST00000479339,;CNKSR3,frameshift_variant,p.Asn131ThrfsTer?,ENST00000454664,;CNKSR3,frameshift_variant,p.Asn68ThrfsTer29,ENST00000424998,;	uc003qpy.2	c.917delA	1462/21063	5	5			c.917delA						6	DEL	c.(916-918)AACfs	55	55			ovary(2)|breast(1)|skin(1)	4	Broad	CNKSR family member 3			154743668		0.448	ENSG00000153721	3545	g.chr6:154743668delT	negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane																					0.03	1	1	0	1	0	0	0	0	0	--	--		0	-				194	GBM-27-1835-TP	p.N306fs	T	CCACCGTAGGTTTTTCAGGGG	NM_173515	NP_775786	154743668	Q6P9H4	CNKR3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)	9	1422	-	-	-		Ovarian(120;0.196)	Frame_Shift_Del	306						
CNKSR3	154043		GRCh37	6	154831213	154831213	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000607772.1:c.36G>A	p.Val12=	p.V12=	ENST00000607772	NM_173515.2	12	gtG/gtA	0																																																																																																																																																																																																																																												
CNN2	1265	broad.mit.edu	GRCh37	19	1037646	1037646	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0174-01	TCGA-06-0174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263097.4:c.679del	p.Arg227GlyfsTer113	p.R227Gfs*113	ENST00000263097	NM_004368.2	226	aCc/ac	0	-:0.0558		1			-	T/X	uc002lqu.2	protein_coding	YES	CCDS12053.1			677/930										0	c.(676-678)ACCfs			Pfam_domain:PF00402,PROSITE_profiles:PS51122,hmmpanther:PTHR18959,hmmpanther:PTHR18959:SF47	calponin 2 isoform a			-:0.0392	ENSP00000263097		7-Jul	0.00155	0.00611	0.000436		0.000151	0.000956			rs371146424	7-Jul	common_variant		ENST00000263097	Transcript			actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding	ENSG00000064666	g.chr19:1037646delC	2156	2		HIGH								--	--	1																																		ABCA7_uc002lqw.3_5'Flank|CNN2_uc002lqv.2_Frame_Shift_Del_p.T187fs|CNN2_uc010xgb.1_Frame_Shift_Del_p.T215fs|CNN2_uc010xgc.1_Frame_Shift_Del_p.T247fs|ABCA7_uc010dsa.2_5'Flank		1			p.T226fs	NM_004368	NP_004359				CNN2_HUMAN	CNN2	HGNC	Q99439	CNN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)			7	1040	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	UPI0000127AF5	226			Calponin-like 2.		deletion	CNN2,frameshift_variant,p.Arg227GlyfsTer113,ENST00000263097,NM_004368.2;CNN2,frameshift_variant,p.Arg188GlyfsTer113,ENST00000348419,NM_201277.1;CNN2,frameshift_variant,p.Arg248GlyfsTer113,ENST00000562958,;CNN2,frameshift_variant,p.Arg216GlyfsTer113,ENST00000565096,;CNN2,3_prime_UTR_variant,,ENST00000568865,;ABCA7,upstream_gene_variant,,ENST00000263094,NM_019112.3;ABCA7,upstream_gene_variant,,ENST00000433129,;CNN2,downstream_gene_variant,,ENST00000562075,;ABCA7,upstream_gene_variant,,ENST00000524850,;ABCA7,upstream_gene_variant,,ENST00000531467,;CNN2,downstream_gene_variant,,ENST00000607102,;AC011558.5,downstream_gene_variant,,ENST00000585757,;CNN2,non_coding_transcript_exon_variant,,ENST00000606983,;CNN2,downstream_gene_variant,,ENST00000562015,;CNN2,non_coding_transcript_exon_variant,,ENST00000564572,;CNN2,non_coding_transcript_exon_variant,,ENST00000566695,;ABCA7,upstream_gene_variant,,ENST00000525238,;ABCA7,upstream_gene_variant,,ENST00000526885,;CNN2,downstream_gene_variant,,ENST00000569352,;ABCA7,upstream_gene_variant,,ENST00000527496,;ABCA7,upstream_gene_variant,,ENST00000530703,;	uc002lqu.2	c.677delC	1040/2462	5	5			c.677delC						19	DEL	c.(676-678)ACCfs	25	25				0	Broad	calponin 2 isoform a			1037646		0.552	ENSG00000064666	3547	g.chr19:1037646delC	actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding																				0.02	1	1	0	1	0	0	0	0	0	--	--		0	-			ABCA7_uc002lqw.3_5'Flank|CNN2_uc002lqv.2_Frame_Shift_Del_p.T187fs|CNN2_uc010xgb.1_Frame_Shift_Del_p.T215fs|CNN2_uc010xgc.1_Frame_Shift_Del_p.T247fs|ABCA7_uc010dsa.2_5'Flank	37	GBM-06-0174-TP	p.T226fs	C	GCTCCCGGGACCCGGCGGCAC	NM_004368	NP_004359	1037646	Q99439	CNN2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1040	+	-	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	Frame_Shift_Del	226			Calponin-like 2.			
CNN2	0	broad.mit.edu	GRCh37	19	1032680	1032680	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-1034-01	TCGA-14-1034-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263097.4:c.375C>T	p.Leu125=	p.L125=	ENST00000263097	NM_004368.2	125	ctC/ctT	0			1			T	L	uc002lqu.2	protein_coding	YES	CCDS12053.1			375/930										0	c.(373-375)CTC>CTT			Gene3D:1.10.418.10,Pfam_domain:PF00307,Prints_domain:PR00888,Prints_domain:PR00889,PROSITE_profiles:PS50021,hmmpanther:PTHR18959,hmmpanther:PTHR18959:SF47,SMART_domains:SM00033,Superfamily_domains:SSF47576	calponin 2 isoform a				ENSP00000263097		7-Apr	1.65E-05							0.000128	rs775599276,COSM2155213	7-Apr	.		ENST00000263097	Transcript			actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding	ENSG00000064666	g.chr19:1032680C>T	2156			LOW								--	--	1																																		CNN2_uc002lqt.1_Silent_p.L125L|CNN2_uc010drz.1_Intron|CNN2_uc002lqv.2_Silent_p.L125L|CNN2_uc010xgb.1_Intron|CNN2_uc010xgc.1_Silent_p.L125L	0,1	1			p.L125L	NM_004368	NP_004359			0,1	CNN2_HUMAN	CNN2	HGNC	Q99439	CNN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)			4	738	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	UPI0000127AF5	125			CH.		SNV	CNN2,synonymous_variant,p.=,ENST00000263097,NM_004368.2;CNN2,synonymous_variant,p.=,ENST00000348419,NM_201277.1;CNN2,synonymous_variant,p.=,ENST00000562958,;CNN2,synonymous_variant,p.=,ENST00000568865,;CNN2,synonymous_variant,p.=,ENST00000562075,;CNN2,intron_variant,,ENST00000565096,;CNN2,intron_variant,,ENST00000607102,;CNN2,non_coding_transcript_exon_variant,,ENST00000606983,;CNN2,non_coding_transcript_exon_variant,,ENST00000562015,;CNN2,synonymous_variant,p.=,ENST00000569352,;CNN2,non_coding_transcript_exon_variant,,ENST00000566695,;CNN2,upstream_gene_variant,,ENST00000564572,;	uc002lqu.2	c.375C>T	738/2462	2	2			c.375C>T						19	SNP	c.(373-375)CTC>CTT	46	46				0	Broad	calponin 2 isoform a			1032680		0.284	ENSG00000064666	3547	g.chr19:1032680C>T	actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding							35.461395	KEEP	5	10	-1	14	17	5	10	-1	36.818002	14	17	0.309524	1	0	0	0	0	0	0	1	0	--	--		0	T			CNN2_uc002lqt.1_Silent_p.L125L|CNN2_uc010drz.1_Intron|CNN2_uc002lqv.2_Silent_p.L125L|CNN2_uc010xgb.1_Intron|CNN2_uc010xgc.1_Silent_p.L125L	142	GBM-14-1034-TP	p.L125L	C	tgtctcttctcgccctggcgg	NM_004368	NP_004359	1032680	Q99439	CNN2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	738	+	T	T		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	Silent	125			CH.			
CNNM2	54805	broad.mit.edu	GRCh37	10	104678301	104678301	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0125-01	TCGA-06-0125-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369878.4:c.64C>G	p.Leu22Val	p.L22V	ENST00000369878	NM_017649.4	22	Ctg/Gtg	0			1			G	L/V	uc001kwm.2	protein_coding	YES	CCDS44474.1			64/2628									ovary(1)|central_nervous_system(1)	2	c.(64-66)CTG>GTG				cyclin M2 isoform 1				ENSP00000358894		8-Jan									COSM1559305,COSM1559304	8-Jan	.		ENST00000369878	Transcript	1		ion transport	integral to membrane		ENSG00000148842	g.chr10:104678301C>G	103			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=CNNM2_HUMAN&rb=1&re=39&var=L22V	NA	getma.org/?cm=var&var=hg19,10,104678301,C,G&fts=all	L22V	--	--	1																																		CNNM2_uc001kwn.2_Missense_Mutation_p.L22V|CNNM2_uc001kwl.2_Missense_Mutation_p.L22V	1,1	1		benign(0.364)	p.L22V	NM_017649	NP_060119		tolerated_low_confidence(0.27)	1,1	CNNM2_HUMAN	CNNM2	HGNC	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)			1	188	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	UPI0000231CA6	22					SNV	CNNM2,missense_variant,p.Leu22Val,ENST00000369878,NM_017649.4;CNNM2,missense_variant,p.Leu22Val,ENST00000433628,NM_199076.2;CNNM2,missense_variant,p.Leu22Val,ENST00000369875,NM_199077.2;RP11-724N1.1,downstream_gene_variant,,ENST00000610034,;	uc001kwm.2	c.64C>G	252/15857	4	4			c.64C>G						10	SNP	c.(64-66)CTG>GTG	26	26			ovary(1)|central_nervous_system(1)	2	Broad	cyclin M2 isoform 1			104678301		0.587	ENSG00000148842	3550	g.chr10:104678301C>G	ion transport	integral to membrane								13.301864	KEEP	4	4	-1	0	3	4	4	-1	13.449528	0	3	0.666667	1	0	0	0	0	1	0	0	0	--	--		0	G			CNNM2_uc001kwn.2_Missense_Mutation_p.L22V|CNNM2_uc001kwl.2_Missense_Mutation_p.L22V	12	GBM-06-0125-TP	p.L22V	C	AGCCGCCGCACTGCCCACTTG	NM_017649	NP_060119	104678301	Q9H8M5	CNNM2_HUMAN	0		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	1	188	+	G	G		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	Missense_Mutation	22						
CNOT1	0	broad.mit.edu	GRCh37	16	58562381	58562385	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	TTAGA	TTAGA	-			TCGA-19-2629-01	TCGA-19-2629-01	TTAGA	TTAGA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317147.5:c.6447_6451delTCTAA	p.Asn2149LysfsTer7	p.N2149Kfs*7	ENST00000317147	NM_016284.4	2149	aaTCTAAag/aaag	0			1			-	NLK/KX	uc002env.2	protein_coding	YES	CCDS10799.1			6447-6451/7131									ovary(4)|central_nervous_system(2)	6	c.(6445-6453)AATCTAAAGfs			hmmpanther:PTHR13162:SF8,hmmpanther:PTHR13162,Pfam_domain:PF04054	CCR4-NOT transcription complex, subunit 1				ENSP00000320949		44/49										44/49	.		ENST00000317147	Transcript			nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		ENSG00000125107	g.chr16:58562381_58562385delTTAGA	7877			HIGH								--	--	1																																		CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Frame_Shift_Del_p.N2144fs|CNOT1_uc002ent.2_Frame_Shift_Del_p.N87fs|CNOT1_uc010vik.1_Frame_Shift_Del_p.N1106fs		1			p.N2149fs	NM_016284	NP_057368				CNOT1_HUMAN	CNOT1	HGNC	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	H3BUY8_HUMAN,H3BT18_HUMAN,H3BPF1_HUMAN,B7Z6X2_HUMAN,B3KS60_HUMAN		44	6740_6744	-			UPI00001FF2F6	2149_2151					deletion	CNOT1,frameshift_variant,p.Asn2149LysfsTer7,ENST00000317147,NM_016284.4,NM_001265612.1;CNOT1,frameshift_variant,p.Asn2144LysfsTer7,ENST00000569240,;CNOT1,frameshift_variant,p.Asn1000LysfsTer7,ENST00000245138,;CNOT1,downstream_gene_variant,,ENST00000568917,;CNOT1,frameshift_variant,p.Asn2144LysfsTer68,ENST00000567188,;CNOT1,splice_region_variant,,ENST00000563130,;CNOT1,upstream_gene_variant,,ENST00000569924,;CNOT1,downstream_gene_variant,,ENST00000570139,;	uc002env.2	c.6447_6451delTCTAA	6780-6784/8471	5	5			c.6447_6451delTCTAA						16	DEL	c.(6445-6453)AATCTAAAGfs	49	49			ovary(4)|central_nervous_system(2)	6	Broad	CCR4-NOT transcription complex, subunit 1			58562385		0.4	ENSG00000125107	3554	g.chr16:58562381_58562385delTTAGA	nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol																					0.29	1	1	0	1	0	0	0	0	0	--	--		0	-			CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Frame_Shift_Del_p.N2144fs|CNOT1_uc002ent.2_Frame_Shift_Del_p.N87fs|CNOT1_uc010vik.1_Frame_Shift_Del_p.N1106fs	166	GBM-19-2629-TP	p.N2149fs	TTAGA	AACCTTACCTTTAGATTAGGAGTGA	NM_016284	NP_057368	58562381	A5YKK6	CNOT1_HUMAN	0		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	44	6740_6744	-	-	-			Frame_Shift_Del	2149_2151						
CNOT1	23019		GRCh37	16	58587731	58587731	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000317147.5:c.2925G>A	p.Leu975=	p.L975=	ENST00000317147	NM_016284.4	975	ttG/ttA	0																																																																																																																																																																																																																																												
CNOT2	4848	broad.mit.edu	GRCh37	12	70732315	70732315	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-5856-01	TCGA-06-5856-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000229195.3:c.993G>C	p.Gln331His	p.Q331H	ENST00000229195	NM_014515.5	331	caG/caC	0			1			C	Q/H	uc001svv.2	protein_coding	YES	CCDS31857.1			993/1623										0	c.(991-993)CAG>CAC			hmmpanther:PTHR23326	CCR4-NOT transcription complex, subunit 2				ENSP00000229195		16-Oct									COSM3399049	16-Oct	.		ENST00000229195	Transcript			nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	ENSG00000111596	g.chr12:70732315G>C	7878			MODERATE		2.005	medium	getma.org/?cm=msa&ty=f&p=CNOT2_HUMAN&rb=201&re=394&var=Q331H	NA	getma.org/?cm=var&var=hg19,12,70732315,G,C&fts=all	Q331H	--	--	1																																		CNOT2_uc009zro.2_Missense_Mutation_p.Q331H|CNOT2_uc009zrp.2_Missense_Mutation_p.Q311H|CNOT2_uc009zrq.2_Missense_Mutation_p.Q331H|CNOT2_uc001svw.1_Missense_Mutation_p.Q71H	1	1		possibly_damaging(0.77)	p.Q331H	NM_014515	NP_055330		tolerated(0.13)	1	CNOT2_HUMAN	CNOT2	HGNC	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		F8VWH8_HUMAN,F8VVY1_HUMAN,F8VUB4_HUMAN,F8VRS2_HUMAN,F8VQD8_HUMAN,F8VPX5_HUMAN,F8VP97_HUMAN		10	1572	+	Renal(347;0.236)		UPI0000052E12	331					SNV	CNOT2,missense_variant,p.Gln331His,ENST00000229195,NM_014515.5;CNOT2,missense_variant,p.Gln331His,ENST00000418359,NM_001199302.1;CNOT2,missense_variant,p.Gln322His,ENST00000548159,;CNOT2,missense_variant,p.Gln42His,ENST00000552599,;CNOT2,missense_variant,p.Gln331His,ENST00000551043,NM_001199303.1;CNOT2,missense_variant,p.Gln270His,ENST00000552915,;CNOT2,missense_variant,p.Gln194His,ENST00000550160,;CNOT2,missense_variant,p.Gln141His,ENST00000550155,;CNOT2,5_prime_UTR_variant,,ENST00000551483,;CNOT2,downstream_gene_variant,,ENST00000552231,;CNOT2,downstream_gene_variant,,ENST00000552483,;CNOT2,downstream_gene_variant,,ENST00000550194,;CNOT2,upstream_gene_variant,,ENST00000551710,;CNOT2,upstream_gene_variant,,ENST00000548338,;CNOT2,non_coding_transcript_exon_variant,,ENST00000549947,;CNOT2,downstream_gene_variant,,ENST00000548230,;CNOT2,downstream_gene_variant,,ENST00000549443,;CNOT2,upstream_gene_variant,,ENST00000548686,;CNOT2,missense_variant,p.Gln21His,ENST00000546673,;CNOT2,3_prime_UTR_variant,,ENST00000548599,;CNOT2,non_coding_transcript_exon_variant,,ENST00000548939,;CNOT2,downstream_gene_variant,,ENST00000548863,;CNOT2,downstream_gene_variant,,ENST00000548021,;CNOT2,upstream_gene_variant,,ENST00000551434,;CNOT2,upstream_gene_variant,,ENST00000549709,;	uc001svv.2	c.993G>C	1572/3280	4	4			c.993G>C						12	SNP	c.(991-993)CAG>CAC	42	42				0	Broad	CCR4-NOT transcription complex, subunit 2			70732315		0.338	ENSG00000111596	3556	g.chr12:70732315G>C	nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity							67.023967	KEEP	17	14	-1	65	59	17	14	-1	78.100006	65	59	0.192	1	0	0	0	0	1	0	0	0	--	--		0	C			CNOT2_uc009zro.2_Missense_Mutation_p.Q331H|CNOT2_uc009zrp.2_Missense_Mutation_p.Q311H|CNOT2_uc009zrq.2_Missense_Mutation_p.Q331H|CNOT2_uc001svw.1_Missense_Mutation_p.Q71H	101	GBM-06-5856-TP	p.Q331H	G	ATAACCAGCAGAAAAAAGGGA	NM_014515	NP_055330	70732315	Q9NZN8	CNOT2_HUMAN	0	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		10	1572	+	C	C	Renal(347;0.236)		Missense_Mutation	331						
CNOT4	4850	broad.mit.edu	GRCh37	7	135047676	135047676	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0241-01	TCGA-06-0241-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000541284.1:c.2103del	p.Thr702GlnfsTer80	p.T702Qfs*80	ENST00000541284	NM_001190849.1	701	ccC/cc	0			1			-	P/X	uc011kpy.1	protein_coding	YES	CCDS55165.1			2103/2142										0	c.(2101-2103)CCCfs			hmmpanther:PTHR12603,hmmpanther:PTHR12603:SF2	CCR4-NOT transcription complex, subunit 4				ENSP00000445508		12-Dec									COSM2151141,COSM2151142,COSM2151140	12-Dec	.		ENST00000541284	Transcript			nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000080802	g.chr7:135047676delG	7880			HIGH								--	--	1																																		CNOT4_uc003vss.2_Frame_Shift_Del_p.P627fs|CNOT4_uc011kpz.1_Frame_Shift_Del_p.P698fs|CNOT4_uc003vst.2_Frame_Shift_Del_p.P630fs	1,1,1	1			p.P701fs	NM_001008225	NP_001008226			1,1,1	CNOT4_HUMAN	CNOT4	HGNC	O95628	CNOT4_HUMAN					11	2195	-			UPI00004166A8	370					deletion	CNOT4,frameshift_variant,p.Thr702GlnfsTer80,ENST00000541284,NM_001190849.1,NM_001190850.1;CNOT4,frameshift_variant,p.Thr699GlnfsTer80,ENST00000451834,;CNOT4,frameshift_variant,p.Thr631GlnfsTer80,ENST00000423368,NM_001190847.1,NM_013316.3;CNOT4,frameshift_variant,p.Thr628GlnfsTer?,ENST00000361528,;CNOT4,downstream_gene_variant,,ENST00000473470,;	uc011kpy.1	c.2103delC	2434/3563	5	5			c.2103delC						7	DEL	c.(2101-2103)CCCfs	32	32				0	Broad	CCR4-NOT transcription complex, subunit 4			135047676		0.527	ENSG00000080802	3558	g.chr7:135047676delG	nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	Ovarian(51;766 1130 5502 35047 50875)			Ovarian(51;766 1130 5502 35047 50875)																0.22	1	1	0	1	0	0	0	0	0	--	--		0	-			CNOT4_uc003vss.2_Frame_Shift_Del_p.P627fs|CNOT4_uc011kpz.1_Frame_Shift_Del_p.P698fs|CNOT4_uc003vst.2_Frame_Shift_Del_p.P630fs	57	GBM-06-0241-TP	p.P701fs	G	GTAAATCTGTGGGGGTTTTGC	NM_001008225	NP_001008226	135047676	O95628	CNOT4_HUMAN	0			11	2195	-	-	-			Frame_Shift_Del	370						
CNOT6L	0	broad.mit.edu	GRCh37	4	78665959	78665959	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5204-01	TCGA-28-5204-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504123.1:c.630C>T	p.Cys210=	p.C210=	ENST00000504123	NM_001286790.1	210	tgC/tgT	0			1			A	C	uc011ccd.1	protein_coding		CCDS68731.1			630/1668									large_intestine(1)	1	c.(628-630)TGC>TGT			Gene3D:3.60.10.10,Pfam_domain:PF03372,hmmpanther:PTHR12121,hmmpanther:PTHR12121:SF35,Superfamily_domains:SSF56219	CCR4-NOT transcription complex, subunit 6-like				ENSP00000424896		12-Jul									COSM2953963,COSM2953962	12-Jul	.		ENST00000504123	Transcript			nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	ENSG00000138767	g.chr4:78665959G>A	18042			LOW								--	--	1																																		CNOT6L_uc003hks.2_Silent_p.C210C|CNOT6L_uc003hkt.1_Silent_p.C53C|CNOT6L_uc011cce.1_Intron	1,1				p.C210C	NM_144571	NP_653172			1,1	CNO6L_HUMAN	CNOT6L	HGNC	Q96LI5	CNO6L_HUMAN			D6RGK9_HUMAN		7	761	-			UPI0000E445DF	210					SNV	CNOT6L,synonymous_variant,p.=,ENST00000504123,NM_001286790.1;CNOT6L,synonymous_variant,p.=,ENST00000264903,NM_144571.2;CNOT6L,synonymous_variant,p.=,ENST00000515506,;CNOT6L,synonymous_variant,p.=,ENST00000512485,;CNOT6L,upstream_gene_variant,,ENST00000505983,;CNOT6L,intron_variant,,ENST00000506166,;CNOT6L,3_prime_UTR_variant,,ENST00000504804,;	uc011ccd.1	c.630C>T	761/8843	2	2			c.630C>T						4	SNP	c.(628-630)TGC>TGT	28	28			large_intestine(1)	1	Broad	CCR4-NOT transcription complex, subunit 6-like			78665959		0.393	ENSG00000138767	3560	g.chr4:78665959G>A	nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding							-3.107982	KEEP	4	0	-1	29	32	4	0	-1	8.264218	29	32	0.067797	1	0	0	0	0	0	0	1	0	--	--		0	A			CNOT6L_uc003hks.2_Silent_p.C210C|CNOT6L_uc003hkt.1_Silent_p.C53C|CNOT6L_uc011cce.1_Intron	215	GBM-28-5204-TP	p.C210C	G	CCCAGGATGGGCAATAGCCAT	NM_144571	NP_653172	78665959	Q96LI5	CNO6L_HUMAN	0			7	761	-	A	A			Silent	210						
CNOT8	0	broad.mit.edu	GRCh37	5	154250226	154250226	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-26-1442-01	TCGA-26-1442-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285896.6:c.317A>G	p.Asp106Gly	p.D106G	ENST00000285896		106	gAc/gGc	0			1			G	D/G	uc003lvu.2	protein_coding		CCDS4329.1			317/879										0	c.(316-318)GAC>GGC		Direct_reversal_of_damage	hmmpanther:PTHR10797,hmmpanther:PTHR10797:SF1,Gene3D:3.30.420.10,Pfam_domain:PF04857,Superfamily_domains:SSF53098	CCR4-NOT transcription complex, subunit 8				ENSP00000285896		7-Apr									COSM3410032	7-Apr	.		ENST00000285896	Transcript			negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity	ENSG00000155508	g.chr5:154250226A>G	9207			MODERATE		4.13	high	getma.org/?cm=msa&ty=f&p=CNOT8_HUMAN&rb=13&re=240&var=D106G	getma.org/pdb.php?prot=CNOT8_HUMAN&from=13&to=240&var=D106G	getma.org/?cm=var&var=hg19,5,154250226,A,G&fts=all	D106G	--	--	1																																		CNOT8_uc011ddf.1_5'UTR|CNOT8_uc011ddg.1_5'UTR|CNOT8_uc011ddh.1_Intron|CNOT8_uc003lvv.2_Missense_Mutation_p.D106G|CNOT8_uc010jig.2_5'UTR|CNOT8_uc010jif.2_5'UTR|CNOT8_uc003lvw.2_Missense_Mutation_p.D106G|CNOT8_uc011ddi.1_5'UTR|CNOT8_uc011ddj.1_Intron	1			probably_damaging(0.997)	p.D106G	NM_004779	NP_004770		deleterious(0)	1	CNOT8_HUMAN	CNOT8	HGNC	Q9UFF9	CNOT8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		E5RK92_HUMAN,E5RJC5_HUMAN,E5RIU0_HUMAN,E5RHG0_HUMAN,E5RGE4_HUMAN,E5RFJ4_HUMAN,B7Z9U0_HUMAN,B7Z5Z0_HUMAN,B0AZS3_HUMAN		5	796	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	UPI0000000E08	106					SNV	CNOT8,missense_variant,p.Asp106Gly,ENST00000517876,;CNOT8,missense_variant,p.Asp106Gly,ENST00000403027,NM_004779.4;CNOT8,missense_variant,p.Asp106Gly,ENST00000285896,;CNOT8,missense_variant,p.Asp106Gly,ENST00000520472,;CNOT8,missense_variant,p.Asp106Gly,ENST00000517568,;CNOT8,missense_variant,p.Asp106Gly,ENST00000519211,;CNOT8,5_prime_UTR_variant,,ENST00000521450,;CNOT8,5_prime_UTR_variant,,ENST00000521583,;CNOT8,5_prime_UTR_variant,,ENST00000520671,;CNOT8,5_prime_UTR_variant,,ENST00000523698,;CNOT8,5_prime_UTR_variant,,ENST00000519903,;CNOT8,intron_variant,,ENST00000519404,;CNOT8,intron_variant,,ENST00000518775,;CNOT8,intron_variant,,ENST00000524105,;CNOT8,intron_variant,,ENST00000522458,;CNOT8,downstream_gene_variant,,ENST00000521402,;CNOT8,synonymous_variant,p.=,ENST00000521729,;CNOT8,3_prime_UTR_variant,,ENST00000522644,;CNOT8,non_coding_transcript_exon_variant,,ENST00000522139,;	uc003lvu.2	c.317A>G	612/2528	3	3			c.317A>G						5	SNP	c.(316-318)GAC>GGC	64	64				0	Broad	CCR4-NOT transcription complex, subunit 8	Direct_reversal_of_damage		154250226		0.393	ENSG00000155508	3562	g.chr5:154250226A>G	negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity	NSCLC(140;1804 1895 27149 29895 35312)			NSCLC(140;1804 1895 27149 29895 35312)			-12.846296	KEEP	2	1	-1	45	46	2	1	-1	6.813669	45	46	0.035714	1	0	0	0	0	1	0	0	0	--	--		0	G			CNOT8_uc011ddf.1_5'UTR|CNOT8_uc011ddg.1_5'UTR|CNOT8_uc011ddh.1_Intron|CNOT8_uc003lvv.2_Missense_Mutation_p.D106G|CNOT8_uc010jig.2_5'UTR|CNOT8_uc010jif.2_5'UTR|CNOT8_uc003lvw.2_Missense_Mutation_p.D106G|CNOT8_uc011ddi.1_5'UTR|CNOT8_uc011ddj.1_Intron	180	GBM-26-1442-TP	p.D106G	A	TTTAGAGAGGACATGTACTCC	NM_004779	NP_004770	154250226	Q9UFF9	CNOT8_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		5	796	+	G	G	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Missense_Mutation	106						
CNR2	0	broad.mit.edu	GRCh37	1	24202118	24202118	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A			TCGA-19-5955-01	TCGA-19-5955-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374472.4:c.-11G>T		*4*	ENST00000374472	NM_001841.2			0			1			A		uc001bif.2	protein_coding		CCDS245.1			-/1083									skin(2)|central_nervous_system(1)	3	c.(-12--8)AAGGG>AATGG				cannabinoid receptor 2 (macrophage)	Nabilone(DB00486)			ENSP00000363596		2-Feb										2-Feb	.		ENST00000374472	Transcript			behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity	ENSG00000188822	g.chr1:24202118C>A	2160			MODIFIER								--	--	1																																								NM_001841	NP_001832				CNR2_HUMAN	CNR2	HGNC	P34972	CNR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	C6ES44_HUMAN		2	117	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	UPI000000DCA3						SNV	CNR2,5_prime_UTR_variant,,ENST00000536471,;CNR2,5_prime_UTR_variant,,ENST00000374472,NM_001841.2;	uc001bif.2	c.-10G>T	152/5254	1	1			c.-10G>T						1	SNP	c.(-12--8)AAGGG>AATGG	57	57			skin(2)|central_nervous_system(1)	3	Broad	cannabinoid receptor 2 (macrophage)		Nabilone(DB00486)	24202118		0.458	ENSG00000188822	3569	g.chr1:24202118C>A	behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity							-16.86407	KEEP	5	4	0.444444444	79	101	5	4	0.444444444	17.364753	79	101	0.054878	1	0	0	0	0	0	0	0	0	--	--		0	A				175	GBM-19-5955-TP		C	GGGGTGGGCCCTTCAGATTCC	NM_001841	NP_001832	24202118	P34972	CNR2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	2	117	-	A	A		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	Translation_Start_Site							
CNTLN	54875	broad.mit.edu	GRCh37	9	17135249	17135249	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380647.3:c.186G>A	p.Gly62=	p.G62=	ENST00000380647		62	ggG/ggA	0			1			A	G	uc003zmz.2	protein_coding	YES	CCDS43789.1			186/4221									pancreas(1)	1	c.(184-186)GGG>GGA			Low_complexity_(Seg):seg	centlein isoform 1				ENSP00000370021		26-Jan									COSM3413538,COSM3413539	26-Jan	.		ENST00000380647	Transcript				centriole|membrane	two-component sensor activity	ENSG00000044459	g.chr9:17135249G>A	23432			LOW								--	--	1																																		CNTLN_uc003zmx.3_Silent_p.G62G|CNTLN_uc003zmy.2_Silent_p.G62G|CNTLN_uc003zmw.1_Silent_p.G62G	1,1	1			p.G62G	NM_017738	NP_060208			1,1	CNTLN_HUMAN	CNTLN	HGNC	Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)			1	212	+			UPI0000458809	62					SNV	CNTLN,synonymous_variant,p.=,ENST00000380647,;CNTLN,synonymous_variant,p.=,ENST00000425824,NM_017738.2;CNTLN,synonymous_variant,p.=,ENST00000380641,NM_001114395.1;CNTLN,synonymous_variant,p.=,ENST00000262360,;CNTLN,non_coding_transcript_exon_variant,,ENST00000484374,;	uc003zmz.2	c.186G>A	270/5576	1	1			c.186G>A						9	SNP	c.(184-186)GGG>GGA	62	62			pancreas(1)	1	Broad	centlein isoform 1			17135249		0.672	ENSG00000044459	3576	g.chr9:17135249G>A		centriole|membrane	two-component sensor activity							20.527096	KEEP	4	4	-1	4	7	4	4	-1	20.641113	4	7	0.411765	1	0	0	0	0	0	0	1	0	--	--		0	A			CNTLN_uc003zmx.3_Silent_p.G62G|CNTLN_uc003zmy.2_Silent_p.G62G|CNTLN_uc003zmw.1_Silent_p.G62G	39	GBM-06-0184-TP	p.G62G	G	GTGAAGAAGGGTCAGGGGGCC	NM_017738	NP_060208	17135249	Q9NXG0	CNTLN_HUMAN	0		GBM - Glioblastoma multiforme(50;6.14e-10)	1	212	+	A	A			Silent	62						
CNTLN	54875		GRCh37	9	17330744	17330744	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000380647.3:c.1456A>G	p.Ile486Val	p.I486V	ENST00000380647		486	Ata/Gta	0																																																																																																																																																																																																																																												
CNTN1	0	broad.mit.edu	GRCh37	12	41410534	41410534	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-19-1390-01	TCGA-19-1390-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000347616.1:c.2235A>T	p.Ala745=	p.A745=	ENST00000347616		745	gcA/gcT	0			1			T	A	uc001rmm.1	protein_coding		CCDS8737.1			2235/3057									lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	c.(2233-2235)GCA>GCT			PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF531,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	contactin 1 isoform 1 precursor				ENSP00000325660		18/23									COSM3398701	18/23	.		ENST00000347616	Transcript	1		axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		ENSG00000018236	g.chr12:41410534A>T	2171			LOW								--	--	1																																		CNTN1_uc001rmn.1_Silent_p.A734A	1				p.A745A	NM_001843	NP_001834			1	CNTN1_HUMAN	CNTN1	HGNC	Q12860	CNTN1_HUMAN			F8VX96_HUMAN,F8VUI9_HUMAN,F8VUI8_HUMAN,F8VQW3_HUMAN		19	2348	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	UPI0000127EBA	745			Fibronectin type-III 2.		SNV	CNTN1,synonymous_variant,p.=,ENST00000551295,NM_001843.3;CNTN1,synonymous_variant,p.=,ENST00000347616,;CNTN1,synonymous_variant,p.=,ENST00000348761,NM_175038.2;CNTN1,non_coding_transcript_exon_variant,,ENST00000550305,;	uc001rmm.1	c.2235A>T	2314/3393	2	2			c.2235A>T						12	SNP	c.(2233-2235)GCA>GCT	30	30			lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	Broad	contactin 1 isoform 1 precursor			41410534		0.368	ENSG00000018236	3577	g.chr12:41410534A>T	axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				952			952	82.754755	KEEP	18	14	-1	48	43	18	14	-1	87.751649	48	43	0.269231	1	0	0	0	0	0	0	1	0	--	--		0	T			CNTN1_uc001rmn.1_Silent_p.A734A	159	GBM-19-1390-TP	p.A745A	A	ACATAGTGGCATTTAAGCCAT	NM_001843	NP_001834	41410534	Q12860	CNTN1_HUMAN	0			19	2348	+	T	T	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	Silent	745			Fibronectin type-III 2.			
CNTN1	0	broad.mit.edu	GRCh37	12	41333137	41333137	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01	TCGA-32-2632-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000347616.1:c.1229C>T	p.Ala410Val	p.A410V	ENST00000347616		410	gCg/gTg	0			1			T	A/V	uc001rmm.1	protein_coding		CCDS8737.1			1229/3057									lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	c.(1228-1230)GCG>GTG			hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF531	contactin 1 isoform 1 precursor				ENSP00000325660		23-Nov									COSM3398699,COSM3398700	23-Nov	.		ENST00000347616	Transcript	1		axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		ENSG00000018236	g.chr12:41333137C>T	2171			MODERATE		2.52	medium	getma.org/?cm=msa&ty=f&p=CNTN1_HUMAN&rb=379&re=442&var=A410V	NA	getma.org/?cm=var&var=hg19,12,41333137,C,T&fts=all	A410V	--	--	1																																		CNTN1_uc009zjy.1_Missense_Mutation_p.A410V|CNTN1_uc001rmn.1_Missense_Mutation_p.A399V|CNTN1_uc001rmo.2_Missense_Mutation_p.A410V	1,1			benign(0.032)	p.A410V	NM_001843	NP_001834		tolerated(0.19)	1,1	CNTN1_HUMAN	CNTN1	HGNC	Q12860	CNTN1_HUMAN			F8VX96_HUMAN,F8VUI9_HUMAN,F8VUI8_HUMAN,F8VQW3_HUMAN		12	1342	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	UPI0000127EBA	410					SNV	CNTN1,missense_variant,p.Ala410Val,ENST00000551295,NM_001843.3;CNTN1,missense_variant,p.Ala410Val,ENST00000347616,;CNTN1,missense_variant,p.Ala399Val,ENST00000348761,NM_175038.2;CNTN1,missense_variant,p.Ala410Val,ENST00000547849,NM_001256064.1;CNTN1,missense_variant,p.Ala410Val,ENST00000547702,NM_001256063.1;CNTN1,missense_variant,p.Ala410Val,ENST00000360099,;	uc001rmm.1	c.1229C>T	1308/3393	2	2			c.1229C>T						12	SNP	c.(1228-1230)GCG>GTG	17	17			lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	Broad	contactin 1 isoform 1 precursor			41333137		0.348	ENSG00000018236	3577	g.chr12:41333137C>T	axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				952			952	-8.130395	KEEP	2	2	-1	44	36	2	2	-1	8.463059	44	36	0.051282	1	0	0	0	0	1	0	0	0	--	--		0	T			CNTN1_uc009zjy.1_Missense_Mutation_p.A410V|CNTN1_uc001rmn.1_Missense_Mutation_p.A399V|CNTN1_uc001rmo.2_Missense_Mutation_p.A410V	240	GBM-32-2632-TP	p.A410V	C	TTCTTTTTAGCGTTGGCTCCA	NM_001843	NP_001834	41333137	Q12860	CNTN1_HUMAN	0			12	1342	+	T	T	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	Missense_Mutation	410						
CNTN2	0	broad.mit.edu	GRCh37	1	205033757	205033758	+	frameshift_variant	Frame_Shift_Del	DEL	TG	TG	-			TCGA-27-2528-01	TCGA-27-2528-01	TG	TG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331830.4:c.1399_1400delGT	p.Val467AsnfsTer16	p.V467Nfs*16	ENST00000331830	NM_005076.3	466	acTGta/acta	0			1			-	TV/TX	uc001hbr.2	protein_coding	YES	CCDS1449.1			1398-1399/3123									ovary(1)	1	c.(1396-1401)ACTGTAfs			Superfamily_domains:SSF48726,SMART_domains:SM00408,SMART_domains:SM00409,Pfam_domain:PF07679,Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF50,PROSITE_profiles:PS50835	contactin 2 precursor				ENSP00000330633		23-Dec										23-Dec	.		ENST00000331830	Transcript	1		axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	ENSG00000184144	g.chr1:205033757_205033758delTG	2172	1		HIGH								--	--	1																																		CNTN2_uc001hbq.1_Frame_Shift_Del_p.T357fs|CNTN2_uc001hbs.2_Frame_Shift_Del_p.T254fs		1			p.T466fs	NM_005076	NP_005067				CNTN2_HUMAN	CNTN2	HGNC	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)				12	1667_1668	+	all_cancers(21;0.144)|Breast(84;0.0437)		UPI00001266A5	466_467			Ig-like C2-type 5.		deletion	CNTN2,frameshift_variant,p.Val467AsnfsTer16,ENST00000331830,NM_005076.3;AL583832.1,downstream_gene_variant,,ENST00000515887,;CNTN2,non_coding_transcript_exon_variant,,ENST00000481872,;CNTN2,non_coding_transcript_exon_variant,,ENST00000527340,;CNTN2,downstream_gene_variant,,ENST00000530117,;CNTN2,upstream_gene_variant,,ENST00000530594,;	uc001hbr.2	c.1398_1399delTG	1682-1683/8141	5	5			c.1398_1399delTG						1	DEL	c.(1396-1401)ACTGTAfs	28	28			ovary(1)	1	Broad	contactin 2 precursor			205033758		0.525	ENSG00000184144	3578	g.chr1:205033757_205033758delTG	axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	Melanoma(183;2548 2817 37099 41192)			Melanoma(183;2548 2817 37099 41192)																0.16	1	1	0	1	0	0	0	0	0	--	--		0	-			CNTN2_uc001hbq.1_Frame_Shift_Del_p.T357fs|CNTN2_uc001hbs.2_Frame_Shift_Del_p.T254fs	205	GBM-27-2528-TP	p.T466fs	TG	ACAGAGTGACTGTAACTCCAGA	NM_005076	NP_005067	205033757	Q02246	CNTN2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		12	1667_1668	+	-	-	all_cancers(21;0.144)|Breast(84;0.0437)		Frame_Shift_Del	466_467			Ig-like C2-type 5.			
CNTN2	6900		GRCh37	1	205042816	205042816	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000331830.4:c.3046C>T	p.Arg1016Cys	p.R1016C	ENST00000331830	NM_005076.3	1016	Cgc/Tgc	0																																																																																																																																																																																																																																												
CNTN3	5067	broad.mit.edu	GRCh37	3	74535739	74535739	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263665.6:c.226C>T	p.Arg76Cys	p.R76C	ENST00000263665	NM_020872.1	76	Cgt/Tgt	0			1			A	R/C	uc003dpm.1	protein_coding	YES	CCDS33790.1			226/3087									breast(3)|ovary(1)|skin(1)	5	c.(226-228)CGT>TGT			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF54,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	contactin 3 precursor				ENSP00000263665		22-Mar	8.24E-06			0.000116					rs745699942,COSM2150480	22-Mar	.		ENST00000263665	Transcript			cell adhesion	anchored to membrane|plasma membrane	protein binding	ENSG00000113805	g.chr3:74535739G>A	2173			MODERATE		4.07	high	getma.org/?cm=msa&ty=f&p=CNTN3_HUMAN&rb=26&re=118&var=R76C	getma.org/pdb.php?prot=CNTN3_HUMAN&from=26&to=118&var=R76C	getma.org/?cm=var&var=hg19,3,74535739,G,A&fts=all	R76C	--	--	1																																			0,1	1		possibly_damaging(0.621)	p.R76C	NM_020872	NP_065923		deleterious(0)	0,1	CNTN3_HUMAN	CNTN3	HGNC	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)			3	306	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	UPI00001A7974	76			Ig-like C2-type 1.		SNV	CNTN3,missense_variant,p.Arg76Cys,ENST00000263665,NM_020872.1;	uc003dpm.1	c.226C>T	254/4948	1	1			c.226C>T						3	SNP	c.(226-228)CGT>TGT	64	64			breast(3)|ovary(1)|skin(1)	5	Broad	contactin 3 precursor			74535739		0.353	ENSG00000113805	3579	g.chr3:74535739G>A	cell adhesion	anchored to membrane|plasma membrane	protein binding							131.521475	KEEP	32	21	-1	74	77	32	21	-1	140.04176	74	77	0.269663	1	0	0	0	0	1	0	0	0	--	--		0	A				39	GBM-06-0184-TP	p.R76C	G	AACTTATAACGATGTTCCATA	NM_020872	NP_065923	74535739	Q9P232	CNTN3_HUMAN	0		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	3	306	-	A	A		Lung NSC(201;0.138)|Lung SC(41;0.21)	Missense_Mutation	76			Ig-like C2-type 1.			
CNTN3	0	broad.mit.edu	GRCh37	3	74316462	74316462	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-12-0615-01	TCGA-12-0615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263665.6:c.2772G>T	p.Glu924Asp	p.E924D	ENST00000263665	NM_020872.1	924	gaG/gaT	0			1			A	E/D	uc003dpm.1	protein_coding	YES	CCDS33790.1			2772/3087									breast(3)|ovary(1)|skin(1)	5	c.(2770-2772)GAG>GAT			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF54,SMART_domains:SM00060,Superfamily_domains:SSF49265	contactin 3 precursor				ENSP00000263665		20/22									COSM2153482	20/22	.		ENST00000263665	Transcript			cell adhesion	anchored to membrane|plasma membrane	protein binding	ENSG00000113805	g.chr3:74316462C>A	2173			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=CNTN3_HUMAN&rb=904&re=986&var=E924D	getma.org/pdb.php?prot=CNTN3_HUMAN&from=904&to=986&var=E924D	getma.org/?cm=var&var=hg19,3,74316462,C,A&fts=all	E924D	--	--	1																																			1	1		benign(0.027)	p.E924D	NM_020872	NP_065923		tolerated(0.49)	1	CNTN3_HUMAN	CNTN3	HGNC	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)			20	2852	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	UPI00001A7974	924			Fibronectin type-III 4.		SNV	CNTN3,missense_variant,p.Glu924Asp,ENST00000263665,NM_020872.1;CNTN3,non_coding_transcript_exon_variant,,ENST00000477856,;	uc003dpm.1	c.2772G>T	2800/4948	2	2			c.2772G>T						3	SNP	c.(2770-2772)GAG>GAT	21	21			breast(3)|ovary(1)|skin(1)	5	Broad	contactin 3 precursor			74316462		0.358	ENSG00000113805	3579	g.chr3:74316462C>A	cell adhesion	anchored to membrane|plasma membrane	protein binding							170.30452	KEEP	35	41	0.539473684	121	132	35	41	0.539473684	188.556923	121	132	0.234043	1	0	0	0	0	1	0	0	0	--	--		0	A				117	GBM-12-0615-TP	p.E924D	C	CTTTAACTTGCTCCCAATTAA	NM_020872	NP_065923	74316462	Q9P232	CNTN3_HUMAN	0		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	20	2852	-	A	A		Lung NSC(201;0.138)|Lung SC(41;0.21)	Missense_Mutation	924			Fibronectin type-III 4.			
CNTN3	0	broad.mit.edu	GRCh37	3	74420493	74420493	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0821-01	TCGA-12-0821-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263665.6:c.512G>A	p.Arg171Gln	p.R171Q	ENST00000263665	NM_020872.1	171	cGg/cAg	0	T:0.0002		1			T	R/Q	uc003dpm.1	protein_coding	YES	CCDS33790.1			512/3087									breast(3)|ovary(1)|skin(1)	5	c.(511-513)CGG>CAG			Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF54,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	contactin 3 precursor			T:0	ENSP00000263665		22-May	8.24E-06	9.63E-05							rs367688857,COSM215921	22-May	.		ENST00000263665	Transcript			cell adhesion	anchored to membrane|plasma membrane	protein binding	ENSG00000113805	g.chr3:74420493C>T	2173			MODERATE		3.595	high	getma.org/?cm=msa&ty=f&p=CNTN3_HUMAN&rb=125&re=214&var=R171Q	getma.org/pdb.php?prot=CNTN3_HUMAN&from=125&to=214&var=R171Q	getma.org/?cm=var&var=hg19,3,74420493,C,T&fts=all	R171Q	--	--	1																																			0,1	1		probably_damaging(1)	p.R171Q	NM_020872	NP_065923		deleterious(0)	0,1	CNTN3_HUMAN	CNTN3	HGNC	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)			5	592	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	UPI00001A7974	171			Ig-like C2-type 2.		SNV	CNTN3,missense_variant,p.Arg171Gln,ENST00000263665,NM_020872.1;	uc003dpm.1	c.512G>A	540/4948	2	2			c.512G>A						3	SNP	c.(511-513)CGG>CAG	40	40			breast(3)|ovary(1)|skin(1)	5	Broad	contactin 3 precursor			74420493		0.403	ENSG00000113805	3579	g.chr3:74420493C>T	cell adhesion	anchored to membrane|plasma membrane	protein binding							213.947433	KEEP	45	31	-1	52	32	45	31	-1	214.099544	52	32	0.464789	1	0	0	0	0	1	0	0	0	--	--		0	T				123	GBM-12-0821-TP	p.R171Q	C	GACAAATCTCCGACTATCTTC	NM_020872	NP_065923	74420493	Q9P232	CNTN3_HUMAN	0		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	5	592	-	T	T		Lung NSC(201;0.138)|Lung SC(41;0.21)	Missense_Mutation	171			Ig-like C2-type 2.			
CNTN3	0	broad.mit.edu	GRCh37	3	74334529	74334529	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263665.6:c.2631G>A	p.Thr877=	p.T877=	ENST00000263665	NM_020872.1	877	acG/acA	0			1			T	T	uc003dpm.1	protein_coding	YES	CCDS33790.1			2631/3087									breast(3)|ovary(1)|skin(1)	5	c.(2629-2631)ACG>ACA			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF54,SMART_domains:SM00060,Superfamily_domains:SSF49265	contactin 3 precursor				ENSP00000263665		19/22	1.65E-05			0.000116		1.50E-05			rs750002537,COSM2157517	19/22	.		ENST00000263665	Transcript			cell adhesion	anchored to membrane|plasma membrane	protein binding	ENSG00000113805	g.chr3:74334529C>T	2173			LOW								--	--	1																																			0,1	1			p.T877T	NM_020872	NP_065923			0,1	CNTN3_HUMAN	CNTN3	HGNC	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)			19	2711	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	UPI00001A7974	877			Fibronectin type-III 3.		SNV	CNTN3,synonymous_variant,p.=,ENST00000263665,NM_020872.1;	uc003dpm.1	c.2631G>A	2659/4948	2	2			c.2631G>A						3	SNP	c.(2629-2631)ACG>ACA	20	20			breast(3)|ovary(1)|skin(1)	5	Broad	contactin 3 precursor			74334529		0.498	ENSG00000113805	3579	g.chr3:74334529C>T	cell adhesion	anchored to membrane|plasma membrane	protein binding							646.081491	KEEP	90	113	-1	110	104	90	113	-1	646.089977	110	104	0.494975	1	0	0	0	0	0	0	1	0	--	--		0	T				265	GBM-76-4925-TP	p.T877T	C	CCCGGACAGCCGTGTAATAGG	NM_020872	NP_065923	74334529	Q9P232	CNTN3_HUMAN	0		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	19	2711	-	T	T		Lung NSC(201;0.138)|Lung SC(41;0.21)	Silent	877			Fibronectin type-III 3.			
CNTN4	152330	broad.mit.edu	GRCh37	3	3076350	3076350	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-02-2485-01	TCGA-02-2485-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397461.1:c.1818C>T	p.Asp606=	p.D606=	ENST00000397461	NM_001206955.1	606	gaC/gaT	0		T:0	1	T:0		T	D	uc003bpc.2	protein_coding	YES	CCDS43041.1			1818/3081									large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7	c.(1816-1818)GAC>GAT			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF568,SMART_domains:SM00060,Superfamily_domains:SSF49265	contactin 4 isoform a precursor		T:0.004		ENSP00000380602	T:0	16/24	0.000206	9.61E-05		0.00197		9.00E-05		6.06E-05	rs185066001,COSM3408581,COSM3408580	16/24	common_variant		ENST00000397461	Transcript	1	T:0.0008	axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	ENSG00000144619	g.chr3:3076350C>T	2174			LOW								--	--	1																																		CNTN4_uc003bpb.1_Silent_p.D277D|CNTN4_uc003bpd.1_Silent_p.D606D|CNTN4_uc003bpe.2_Silent_p.D278D|CNTN4_uc003bpf.2_Silent_p.D277D	0,1,1	1			p.D606D	NM_175607	NP_783200	T:0		0,1,1	CNTN4_HUMAN	CNTN4	HGNC	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	G3XAD4_HUMAN,C9JMQ2_HUMAN,C9JGK9_HUMAN		16	2039	+		Ovarian(110;0.156)	UPI000007446C	606			Fibronectin type-III 1.		SNV	CNTN4,synonymous_variant,p.=,ENST00000397461,NM_001206955.1;CNTN4,synonymous_variant,p.=,ENST00000418658,NM_175607.2;CNTN4,synonymous_variant,p.=,ENST00000427331,;CNTN4,synonymous_variant,p.=,ENST00000358480,;CNTN4,synonymous_variant,p.=,ENST00000397459,NM_001206956.1,NM_175613.2;CNTN4,synonymous_variant,p.=,ENST00000448906,;CNTN4-AS1,downstream_gene_variant,,ENST00000442749,;CNTN4,3_prime_UTR_variant,,ENST00000427741,;CNTN4,non_coding_transcript_exon_variant,,ENST00000430505,;CNTN4,upstream_gene_variant,,ENST00000484686,;	uc003bpc.2	c.1818C>T	2202/5198	2	2			c.1818C>T						3	SNP	c.(1816-1818)GAC>GAT	18	18			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7	Broad	contactin 4 isoform a precursor			3076350		0.537	ENSG00000144619	3580	g.chr3:3076350C>T	axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding							120.12895	KEEP	20	26	-1	29	30	20	26	-1	120.456439	29	30	0.4375	1	0	0	0	0	0	0	1	0	--	--		0	T			CNTN4_uc003bpb.1_Silent_p.D277D|CNTN4_uc003bpd.1_Silent_p.D606D|CNTN4_uc003bpe.2_Silent_p.D278D|CNTN4_uc003bpf.2_Silent_p.D277D	7	GBM-02-2485-TP	p.D606D	C	TGACAATAGACGAAATCACAG	NM_175607	NP_783200	3076350	Q8IWV2	CNTN4_HUMAN	0		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	16	2039	+	T	T		Ovarian(110;0.156)	Silent	606			Fibronectin type-III 1.			
CNTN4	152330	broad.mit.edu	GRCh37	3	2861249	2861249	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0174-01	TCGA-06-0174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397461.1:c.438G>A	p.Pro146=	p.P146=	ENST00000397461	NM_001206955.1	146	ccG/ccA	0			1			A	P	uc003bpc.2	protein_coding	YES	CCDS43041.1			438/3081									large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7	c.(436-438)CCG>CCA			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF568,SMART_domains:SM00409,Superfamily_domains:SSF48726	contactin 4 isoform a precursor				ENSP00000380602		24-Jun									COSM3408572	24-Jun	.		ENST00000397461	Transcript	1		axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	ENSG00000144619	g.chr3:2861249G>A	2174			LOW								--	--	1																																		CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Silent_p.P146P	1	1			p.P146P	NM_175607	NP_783200			1	CNTN4_HUMAN	CNTN4	HGNC	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	G3XAD4_HUMAN,C9JMQ2_HUMAN,C9JGK9_HUMAN		6	659	+		Ovarian(110;0.156)	UPI000007446C	146			Ig-like C2-type 2.		SNV	CNTN4,synonymous_variant,p.=,ENST00000397461,NM_001206955.1;CNTN4,synonymous_variant,p.=,ENST00000418658,NM_175607.2;CNTN4,synonymous_variant,p.=,ENST00000427331,;CNTN4,synonymous_variant,p.=,ENST00000427741,;CNTN4,non_coding_transcript_exon_variant,,ENST00000430505,;CNTN4,non_coding_transcript_exon_variant,,ENST00000438282,;	uc003bpc.2	c.438G>A	822/5198	2	2			c.438G>A						3	SNP	c.(436-438)CCG>CCA	45	45			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7	Broad	contactin 4 isoform a precursor			2861249		0.453	ENSG00000144619	3580	g.chr3:2861249G>A	axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding							74.137722	KEEP	18	17	-1	28	42	18	17	-1	75.804188	28	42	0.349398	1	0	0	0	0	0	0	1	0	--	--		0	A			CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Silent_p.P146P	37	GBM-06-0174-TP	p.P146P	G	TGTGTGGCCCGCCACCCCATT	NM_175607	NP_783200	2861249	Q8IWV2	CNTN4_HUMAN	0		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	6	659	+	A	A		Ovarian(110;0.156)	Silent	146			Ig-like C2-type 2.			
CNTN4	0	broad.mit.edu	GRCh37	3	2787313	2787313	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397461.1:c.290C>T	p.Thr97Met	p.T97M	ENST00000397461	NM_001206955.1	97	aCg/aTg	0			1			T	T/M	uc003bpc.2	protein_coding	YES	CCDS43041.1			290/3081									large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7	c.(289-291)ACG>ATG			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF568,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	contactin 4 isoform a precursor				ENSP00000380602		24-May	2.48E-05					3.00E-05		6.06E-05	rs780874348,COSM3408569	24-May	.		ENST00000397461	Transcript	1		axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	ENSG00000144619	g.chr3:2787313C>T	2174			MODERATE		1.29	low	getma.org/?cm=msa&ty=f&p=CNTN4_HUMAN&rb=26&re=118&var=T97M	getma.org/pdb.php?prot=CNTN4_HUMAN&from=26&to=118&var=T97M	getma.org/?cm=var&var=hg19,3,2787313,C,T&fts=all	T97M	--	--	1																																		CNTN4_uc003bpb.1_Translation_Start_Site|CNTN4_uc003bpd.1_Missense_Mutation_p.T97M	0,1	1		benign(0.237)	p.T97M	NM_175607	NP_783200		tolerated(0.35)	0,1	CNTN4_HUMAN	CNTN4	HGNC	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	G3XAD4_HUMAN,C9JMQ2_HUMAN,C9JGK9_HUMAN		5	511	+		Ovarian(110;0.156)	UPI000007446C	97			Ig-like C2-type 1.		SNV	CNTN4,missense_variant,p.Thr97Met,ENST00000397461,NM_001206955.1;CNTN4,missense_variant,p.Thr97Met,ENST00000418658,NM_175607.2;CNTN4,missense_variant,p.Thr97Met,ENST00000427331,;CNTN4,missense_variant,p.Thr97Met,ENST00000422330,;CNTN4,missense_variant,p.Thr115Met,ENST00000434053,;CNTN4,missense_variant,p.Thr97Met,ENST00000427741,;CNTN4,non_coding_transcript_exon_variant,,ENST00000430505,;CNTN4,non_coding_transcript_exon_variant,,ENST00000438282,;CNTN4,downstream_gene_variant,,ENST00000480113,;	uc003bpc.2	c.290C>T	674/5198	1	1			c.290C>T						3	SNP	c.(289-291)ACG>ATG	3	3			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7	Broad	contactin 4 isoform a precursor			2787313		0.408	ENSG00000144619	3580	g.chr3:2787313C>T	axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding							211.982246	KEEP	37	39	-1	52	60	37	39	-1	213.496954	52	60	0.40113	1	0	0	0	0	1	0	0	0	--	--		0	T			CNTN4_uc003bpb.1_Translation_Start_Site|CNTN4_uc003bpd.1_Missense_Mutation_p.T97M	271	GBM-76-4932-TP	p.T97M	C	GATGCTGGAACGTACCAGTGC	NM_175607	NP_783200	2787313	Q8IWV2	CNTN4_HUMAN	0		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	5	511	+	T	T		Ovarian(110;0.156)	Missense_Mutation	97			Ig-like C2-type 1.			
CNTN4	152330		GRCh37	3	3076439	3076439	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000397461.1:c.1907C>T	p.Thr636Ile	p.T636I	ENST00000397461	NM_001206955.1	636	aCt/aTt	0																																																																																																																																																																																																																																												
CNTN5	53942	broad.mit.edu	GRCh37	11	100126601	100126601	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000524871.1:c.2115C>A	p.Asn705Lys	p.N705K	ENST00000524871	NM_014361.3	705	aaC/aaA	0			1			A	N/K	uc001pga.2	protein_coding	YES	CCDS53696.1			2115/3303									skin(3)|ovary(2)|pancreas(2)|breast(1)	8	c.(2113-2115)AAC>AAA			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF51,SMART_domains:SM00060,Superfamily_domains:SSF49265	contactin 5 isoform long				ENSP00000435637		17/25									COSM3397343,COSM3397342	17/25	.		ENST00000524871	Transcript			cell adhesion	anchored to membrane|plasma membrane	protein binding	ENSG00000149972	g.chr11:100126601C>A	2175			MODERATE		1.405	low	getma.org/?cm=msa&ty=f&p=CNTN5_HUMAN&rb=672&re=760&var=N705K	getma.org/pdb.php?prot=CNTN5_HUMAN&from=672&to=760&var=N705K	getma.org/?cm=var&var=hg19,11,100126601,C,A&fts=all	N705K	--	--	1																																		CNTN5_uc001pfz.2_Missense_Mutation_p.N705K|CNTN5_uc001pgb.2_Missense_Mutation_p.N631K|CNTN5_uc010ruk.1_5'UTR	1,1	1		possibly_damaging(0.886)	p.N705K	NM_014361	NP_055176		tolerated(0.15)	1,1	CNTN5_HUMAN	CNTN5	HGNC	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	B4DGP0_HUMAN		17	2454	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	UPI000006DAB0	705			Fibronectin type-III 1.		SNV	CNTN5,missense_variant,p.Asn705Lys,ENST00000524871,NM_014361.3;CNTN5,missense_variant,p.Asn705Lys,ENST00000527185,NM_001243271.1;CNTN5,missense_variant,p.Asn705Lys,ENST00000528682,NM_001243270.1;CNTN5,missense_variant,p.Asn631Lys,ENST00000418526,NM_175566.2;CNTN5,missense_variant,p.Asn705Lys,ENST00000279463,;CNTN5,non_coding_transcript_exon_variant,,ENST00000524560,;	uc001pga.2	c.2115C>A	2405/6258	2	2			c.2115C>A						11	SNP	c.(2113-2115)AAC>AAA	41	41			skin(3)|ovary(2)|pancreas(2)|breast(1)	8	Broad	contactin 5 isoform long			100126601		0.507	ENSG00000149972	3581	g.chr11:100126601C>A	cell adhesion	anchored to membrane|plasma membrane	protein binding			1117			1117	108.484571	KEEP	17	23	0.575	20	31	17	23	0.575	108.739172	20	31	0.440476	1	0	0	0	0	1	0	0	0	--	--		0	A			CNTN5_uc001pfz.2_Missense_Mutation_p.N705K|CNTN5_uc001pgb.2_Missense_Mutation_p.N631K|CNTN5_uc010ruk.1_5'UTR	65	GBM-06-0743-TP	p.N705K	C	CCTCCTACAACCTTCAAGCTC	NM_014361	NP_055176	100126601	O94779	CNTN5_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	17	2454	+	A	A		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	Missense_Mutation	705			Fibronectin type-III 1.			
CNTN5	0	broad.mit.edu	GRCh37	11	100211381	100211382	+	frameshift_variant,splice_region_variant	Frame_Shift_Ins	INS	-	-	GT			TCGA-12-0692-01	TCGA-12-0692-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000524871.1:c.2917+1_2917+2dupGT		P973fs	ENST00000524871	NM_014361.3	973	cct/cGTct	0			1			GT	P/RX	uc001pga.2	protein_coding	YES	CCDS53696.1			2917-2918/3303									skin(3)|ovary(2)|pancreas(2)|breast(1)	8	c.e22+1			Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF51,Superfamily_domains:SSF49265	contactin 5 isoform long				ENSP00000435637													.		ENST00000524871	Transcript			cell adhesion	anchored to membrane|plasma membrane	protein binding	ENSG00000149972	g.chr11:100211381_100211382insGT	2175	2		HIGH								--	--	1																																		CNTN5_uc001pgb.2_Splice_Site_p.P899_splice|CNTN5_uc010ruk.1_Splice_Site_p.P244_splice		1			p.P973_splice	NM_014361	NP_055176				CNTN5_HUMAN	CNTN5	HGNC	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	B4DGP0_HUMAN		22	3256	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	UPI000006DAB0						insertion	CNTN5,frameshift_variant,,ENST00000524871,NM_014361.3;CNTN5,frameshift_variant,,ENST00000528682,NM_001243270.1;CNTN5,frameshift_variant,,ENST00000418526,NM_175566.2;CNTN5,frameshift_variant,,ENST00000279463,;CNTN5,splice_region_variant,,ENST00000524560,;RPA2P3,downstream_gene_variant,,ENST00000533268,;	uc001pga.2	c.2917_splice	3207-3208/6258	5	5			c.2917_splice						11	INS	c.e22+1	48	48			skin(3)|ovary(2)|pancreas(2)|breast(1)	8	Broad	contactin 5 isoform long			100211382		0.441	ENSG00000149972	3581	g.chr11:100211381_100211382insGT	cell adhesion	anchored to membrane|plasma membrane	protein binding			1117			1117														0.32	1	0	0	1	1	0	0	0	1	--	--		0	GT			CNTN5_uc001pgb.2_Splice_Site_p.P899_splice|CNTN5_uc010ruk.1_Splice_Site_p.P244_splice	122	GBM-12-0692-TP	p.P973_splice	-	CAAGAAATCCCGTAAGTGACCT	NM_014361	NP_055176	100211381	O94779	CNTN5_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	22	3256	+	GT	GT		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	Splice_Site							
CNTN5	0	broad.mit.edu	GRCh37	11	99827702	99827703	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	TCCTTAGTCC			TCGA-27-1834-01	TCGA-27-1834-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000524871.1:c.842_851dupTTAGTCCTCC	p.Thr285Ter	p.T285*	ENST00000524871	NM_014361.3	280	gtc/gTCCTTAGTCCtc	0			1			TCCTTAGTCC	V/VLSPX	uc001pga.2	protein_coding	YES	CCDS53696.1			838-839/3303									skin(3)|ovary(2)|pancreas(2)|breast(1)	8	c.(838-840)GTCfs			PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF51,SMART_domains:SM00409,Superfamily_domains:SSF48726	contactin 5 isoform long				ENSP00000435637		25-Aug										25-Aug	.		ENST00000524871	Transcript			cell adhesion	anchored to membrane|plasma membrane	protein binding	ENSG00000149972	g.chr11:99827702_99827703insTCCTTAGTCC	2175	13		HIGH								--	--	1																																		CNTN5_uc009ywv.1_Frame_Shift_Ins_p.V280fs|CNTN5_uc001pfz.2_Frame_Shift_Ins_p.V280fs|CNTN5_uc001pgb.2_Frame_Shift_Ins_p.V206fs		1			p.V280fs	NM_014361	NP_055176				CNTN5_HUMAN	CNTN5	HGNC	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	B4DGP0_HUMAN		8	1177_1178	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	UPI000006DAB0	280			Ig-like C2-type 2.		insertion	CNTN5,frameshift_variant,p.Thr285Ter,ENST00000524871,NM_014361.3;CNTN5,frameshift_variant,p.Thr285Ter,ENST00000527185,NM_001243271.1;CNTN5,frameshift_variant,p.Thr285Ter,ENST00000528682,NM_001243270.1;CNTN5,frameshift_variant,p.Thr211Ter,ENST00000418526,NM_175566.2;CNTN5,frameshift_variant,p.Thr285Ter,ENST00000279463,;CNTN5,non_coding_transcript_exon_variant,,ENST00000525236,;CNTN5,non_coding_transcript_exon_variant,,ENST00000528727,;	uc001pga.2	c.838_839insTCCTTAGTCC	1128-1129/6258	5	5			c.838_839insTCCTTAGTCC						11	INS	c.(838-840)GTCfs	61	61			skin(3)|ovary(2)|pancreas(2)|breast(1)	8	Broad	contactin 5 isoform long			99827703		0.416	ENSG00000149972	3581	g.chr11:99827702_99827703insTCCTTAGTCC	cell adhesion	anchored to membrane|plasma membrane	protein binding			1117			1117														0.12	1	0	0	1	1	0	0	0	0	--	--		0	TCCTTAGTCC			CNTN5_uc009ywv.1_Frame_Shift_Ins_p.V280fs|CNTN5_uc001pfz.2_Frame_Shift_Ins_p.V280fs|CNTN5_uc001pgb.2_Frame_Shift_Ins_p.V206fs	193	GBM-27-1834-TP	p.V280fs	-	GAATGCTAGAGTCCTTAGTCCT	NM_014361	NP_055176	99827702	O94779	CNTN5_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	8	1177_1178	+	TCCTTAGTCC	TCCTTAGTCC		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	Frame_Shift_Ins	280			Ig-like C2-type 2.			
CNTN6	27255	broad.mit.edu	GRCh37	3	1427473	1427473	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs143460057		TCGA-06-0882-01	TCGA-06-0882-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000446702.2:c.2696A>G	p.Lys899Arg	p.K899R	ENST00000446702		899	aAa/aGa	0	G:0		1			G	K/R	uc003boz.2	protein_coding		CCDS2557.1			2696/3087									skin(3)|lung(2)|breast(2)|pancreas(1)	8	c.(2695-2697)AAA>AGA			Superfamily_domains:SSF49265,Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF52,PROSITE_profiles:PS50853	contactin 6 precursor			G:0.0001	ENSP00000341882		20/23	8.24E-06					1.52E-05			rs143460057,COSM2152353	20/23	.		ENST00000350110	Transcript			axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		ENSG00000134115	g.chr3:1427473A>G	2176			MODERATE		1.965	medium	getma.org/?cm=msa&ty=f&p=CNTN6_HUMAN&rb=892&re=1028&var=K899R	getma.org/pdb.php?prot=CNTN6_HUMAN&from=892&to=1028&var=K899R	getma.org/?cm=var&var=hg19,3,1427473,A,G&fts=all	K899R	--	--	1																																		CNTN6_uc011asj.1_Missense_Mutation_p.K827R|CNTN6_uc003bpa.2_Missense_Mutation_p.K899R	0,1			benign(0.041)	p.K899R	NM_014461	NP_055276		tolerated(0.22)	0,1	CNTN6_HUMAN	CNTN6	HGNC	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	F5H752_HUMAN		20	2963	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	UPI0000072430	899					SNV	CNTN6,missense_variant,p.Lys899Arg,ENST00000446702,;CNTN6,missense_variant,p.Lys899Arg,ENST00000350110,NM_014461.2;CNTN6,missense_variant,p.Lys827Arg,ENST00000539053,;CNTN6,3_prime_UTR_variant,,ENST00000397479,;	uc003boz.2	c.2696A>G	3247/3814	3	3			c.2696A>G						3	SNP	c.(2695-2697)AAA>AGA	59	59			skin(3)|lung(2)|breast(2)|pancreas(1)	8	Broad	contactin 6 precursor			1427473		0.453	ENSG00000134115	3582	g.chr3:1427473A>G	axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				1038			1038	150.80307	KEEP	37	20	-1	85	91	37	20	-1	164.041429	85	91	0.240741	1	0	0	0	0	1	0	0	0	--	--		0	G			CNTN6_uc011asj.1_Missense_Mutation_p.K827R|CNTN6_uc003bpa.2_Missense_Mutation_p.K899R	77	GBM-06-0882-TP	p.K899R	A	GTTACCACCAAAAAGTCTCGT	NM_014461	NP_055276	1427473	Q9UQ52	CNTN6_HUMAN	0		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	20	2963	+	G	G		all_cancers(2;0.000164)|all_epithelial(2;0.107)	Missense_Mutation	899						
CNTN6	0	broad.mit.edu	GRCh37	3	1415706	1415706	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-14-1395-01	TCGA-14-1395-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000350110.2:c.2046delG	p.Ile683LeufsTer11	p.I683Lfs*11	ENST00000350110	NM_014461.2	682	Ggg/gg	0			1			-	G/X	uc003boz.2	protein_coding		CCDS2557.1			2044/3087									skin(3)|lung(2)|breast(2)|pancreas(1)	8	c.(2044-2046)GGGfs			Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF52,PROSITE_profiles:PS50853	contactin 6 precursor				ENSP00000341882		16/23										16/23	.		ENST00000350110	Transcript			axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		ENSG00000134115	g.chr3:1415706delG	2176	2		HIGH								--	--	1																																		CNTN6_uc011asj.1_Frame_Shift_Del_p.G610fs|CNTN6_uc003bpa.2_Frame_Shift_Del_p.G682fs					p.G682fs	NM_014461	NP_055276				CNTN6_HUMAN	CNTN6	HGNC	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	F5H752_HUMAN		16	2311	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	UPI0000072430	682			Fibronectin type-III 1.		deletion	CNTN6,frameshift_variant,p.Ile683LeufsTer11,ENST00000446702,;CNTN6,frameshift_variant,p.Ile683LeufsTer11,ENST00000350110,NM_014461.2;CNTN6,frameshift_variant,p.Ile611LeufsTer11,ENST00000539053,;CNTN6,3_prime_UTR_variant,,ENST00000397479,;	uc003boz.2	c.2044delG	2595/3814	5	5			c.2044delG						3	DEL	c.(2044-2046)GGGfs	24	24			skin(3)|lung(2)|breast(2)|pancreas(1)	8	Broad	contactin 6 precursor			1415706		0.393	ENSG00000134115	3582	g.chr3:1415706delG	axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				1038			1038														0.46	1	1	0	1	0	0	0	0	0	--	--		0	-			CNTN6_uc011asj.1_Frame_Shift_Del_p.G610fs|CNTN6_uc003bpa.2_Frame_Shift_Del_p.G682fs	144	GBM-14-1395-TP	p.G682fs	G	CAACAGCATTGGGATTGGAGA	NM_014461	NP_055276	1415706	Q9UQ52	CNTN6_HUMAN	0		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	16	2311	+	-	-		all_cancers(2;0.000164)|all_epithelial(2;0.107)	Frame_Shift_Del	682			Fibronectin type-III 1.			
CNTN6	0	broad.mit.edu	GRCh37	3	1339608	1339608	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01	TCGA-76-6285-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000350110.2:c.694C>T	p.Arg232Cys	p.R232C	ENST00000350110	NM_014461.2	232	Cgt/Tgt	0			1			T	R/C	uc003boz.2	protein_coding		CCDS2557.1			694/3087									skin(3)|lung(2)|breast(2)|pancreas(1)	8	c.(694-696)CGT>TGT			Superfamily_domains:SSF48726,Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF52,PROSITE_profiles:PS50835	contactin 6 precursor				ENSP00000341882		23-Jul	8.24E-06					1.50E-05			rs762861042,COSM3408250	23-Jul	.		ENST00000350110	Transcript			axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		ENSG00000134115	g.chr3:1339608C>T	2176			MODERATE		2.43	medium	getma.org/?cm=msa&ty=f&p=CNTN6_HUMAN&rb=227&re=313&var=R232C	getma.org/pdb.php?prot=CNTN6_HUMAN&from=227&to=313&var=R232C	getma.org/?cm=var&var=hg19,3,1339608,C,T&fts=all	R232C	--	--	1																																		CNTN6_uc010hbo.2_Missense_Mutation_p.R227C|CNTN6_uc011asj.1_Missense_Mutation_p.R160C|CNTN6_uc003bpa.2_Missense_Mutation_p.R232C	0,1			probably_damaging(0.961)	p.R232C	NM_014461	NP_055276		deleterious(0)	0,1	CNTN6_HUMAN	CNTN6	HGNC	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	F5H752_HUMAN		7	961	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	UPI0000072430	232			Ig-like C2-type 3.		SNV	CNTN6,missense_variant,p.Arg232Cys,ENST00000446702,;CNTN6,missense_variant,p.Arg232Cys,ENST00000350110,NM_014461.2;CNTN6,missense_variant,p.Arg160Cys,ENST00000539053,;CNTN6,3_prime_UTR_variant,,ENST00000397479,;CNTN6,3_prime_UTR_variant,,ENST00000394261,;	uc003boz.2	c.694C>T	1245/3814	1	1			c.694C>T						3	SNP	c.(694-696)CGT>TGT	4	4			skin(3)|lung(2)|breast(2)|pancreas(1)	8	Broad	contactin 6 precursor			1339608		0.338	ENSG00000134115	3582	g.chr3:1339608C>T	axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				1038			1038	118.343754	KEEP	31	27	-1	77	69	31	27	-1	125.684399	77	69	0.276074	1	0	0	0	0	1	0	0	0	--	--		0	T			CNTN6_uc010hbo.2_Missense_Mutation_p.R227C|CNTN6_uc011asj.1_Missense_Mutation_p.R160C|CNTN6_uc003bpa.2_Missense_Mutation_p.R232C	280	GBM-76-6285-TP	p.R232C	C	GATTGAAGTGCGTTTTCCTGA	NM_014461	NP_055276	1339608	Q9UQ52	CNTN6_HUMAN	0		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	7	961	+	T	T		all_cancers(2;0.000164)|all_epithelial(2;0.107)	Missense_Mutation	232			Ig-like C2-type 3.			
CNTN6	27255		GRCh37	3	1424680	1424680	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000446702.2:c.2221C>T	p.Arg741Trp	p.R741W	ENST00000446702		741	Cgg/Tgg	0																																																																																																																																																																																																																																												
CNTNAP1	0	broad.mit.edu	GRCh37	17	40847561	40847561	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-4209-01	TCGA-32-4209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264638.4:c.3015G>A	p.Pro1005=	p.P1005=	ENST00000264638	NM_003632.2	1005	ccG/ccA	0			1			A	P	uc002iay.2	protein_coding	YES	CCDS11436.1			3015/4155									ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8	c.(3013-3015)CCG>CCA			hmmpanther:PTHR10127:SF584,hmmpanther:PTHR10127,Gene3D:2.60.120.200,Superfamily_domains:SSF49899	contactin associated protein 1 precursor				ENSP00000264638		19/24	3.30E-05		8.67E-05	0.000117		1.57E-05		6.36E-05	rs775278930,COSM436645	19/24	.		ENST00000264638	Transcript	1		axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	ENSG00000108797	g.chr17:40847561G>A	8011			LOW								--	--	1																																		CNTNAP1_uc010wgs.1_RNA	0,1	1			p.P1005P	NM_003632	NP_003623			0,1	CNTP1_HUMAN	CNTNAP1	HGNC	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)			19	3231	+		Breast(137;0.000143)	UPI00001285F6	1005			Extracellular (Potential).		SNV	CNTNAP1,synonymous_variant,p.=,ENST00000264638,NM_003632.2;EZH1,downstream_gene_variant,,ENST00000428826,;EZH1,downstream_gene_variant,,ENST00000415827,NM_001991.3;EZH1,downstream_gene_variant,,ENST00000435174,;CTD-3193K9.3,intron_variant,,ENST00000592440,;CNTNAP1,3_prime_UTR_variant,,ENST00000591662,;CNTNAP1,downstream_gene_variant,,ENST00000585534,;	uc002iay.2	c.3015G>A	3232/5276	1	1			c.3015G>A						17	SNP	c.(3013-3015)CCG>CCA	52	52			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8	Broad	contactin associated protein 1 precursor			40847561		0.567	ENSG00000108797	3583	g.chr17:40847561G>A	axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity							161.534734	KEEP	45	38	-1	140	172	45	38	-1	185.974529	140	172	0.2125	1	0	0	0	0	0	0	1	0	--	--		0	A			CNTNAP1_uc010wgs.1_RNA	244	GBM-32-4209-TP	p.P1005P	G	TCTTTGAGCCGGGCACCTGGA	NM_003632	NP_003623	40847561	P78357	CNTP1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(366;0.143)	19	3231	+	A	A		Breast(137;0.000143)	Silent	1005			Extracellular (Potential).			
CNTNAP1	8506		GRCh37	17	40845455	40845455	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000264638.4:c.2893C>G	p.Arg965Gly	p.R965G	ENST00000264638	NM_003632.2	965	Cgg/Ggg	0																																																																																																																																																																																																																																												
CNTNAP2	26047	broad.mit.edu	GRCh37	7	146818164	146818164	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01	TCGA-02-2470-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361727.3:c.848G>A	p.Arg283His	p.R283H	ENST00000361727	NM_014141.5	283	cGc/cAc	0			1			A	R/H	uc003weu.1	protein_coding	YES	CCDS5889.1			848/3996									ovary(9)|central_nervous_system(1)|pancreas(1)	11	c.(847-849)CGC>CAC			PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF4,hmmpanther:PTHR10127,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282,Superfamily_domains:SSF49899	cell recognition molecule Caspr2 precursor				ENSP00000354778		24-Jun	2.47E-05	9.61E-05				1.50E-05			rs764747425,COSM3394591	24-Jun	.		ENST00000361727	Transcript	1		behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	ENSG00000174469	g.chr7:146818164G>A	13830			MODERATE		2.44	medium	getma.org/?cm=msa&ty=f&p=CNTP2_HUMAN&rb=216&re=345&var=R283H	getma.org/pdb.php?prot=CNTP2_HUMAN&from=216&to=345&var=R283H	getma.org/?cm=var&var=hg19,7,146818164,G,A&fts=all	R283H	--	--	1				HNSCC(39;0.1)																															0,1	1		benign(0.413)	p.R283H	NM_014141	NP_054860		tolerated(0.2)	0,1	CNTP2_HUMAN	CNTNAP2	HGNC	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		Q9UDV4_HUMAN,Q96T77_HUMAN,Q86UL9_HUMAN,Q86UL6_HUMAN,Q86UL4_HUMAN,Q86UJ1_HUMAN,Q86UI8_HUMAN,Q75MQ9_HUMAN,Q75MF8_HUMAN,Q75MF6_HUMAN,Q75MD4_HUMAN,Q75MA1_HUMAN,Q75M92_HUMAN,Q75LG9_HUMAN,O75852_HUMAN,B7Z1Y6_HUMAN		6	1364	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	UPI00001285FA	283		R -> C.	Laminin G-like 1.|Extracellular (Potential).		SNV	CNTNAP2,missense_variant,p.Arg283His,ENST00000361727,NM_014141.5;	uc003weu.1	c.848G>A	1364/9894	2	2			c.848G>A						7	SNP	c.(847-849)CGC>CAC	41	41			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Broad	cell recognition molecule Caspr2 precursor			146818164		0.532	ENSG00000174469	3584	g.chr7:146818164G>A	behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding							46.6266	KEEP	15	12	-1	56	65	15	12	-1	60.035927	56	65	0.176471	1	0	0	0	0	1	0	0	0	--	--	HNSCC(39;0.1)	0	A				5	GBM-02-2470-TP	p.R283H	G	GTCATTGAGCGCCAGGGGCGG	NM_014141	NP_054860	146818164	Q9UHC6	CNTP2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		6	1364	+	A	A	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	Missense_Mutation	283		R -> C.	Laminin G-like 1.|Extracellular (Potential).			
CNTNAP2	26047	broad.mit.edu	GRCh37	7	146997332	146997332	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361727.3:c.1448G>A	p.Arg483Gln	p.R483Q	ENST00000361727	NM_014141.5	483	cGa/cAa	0			1			A	R/Q	uc003weu.1	protein_coding	YES	CCDS5889.1			1448/3996									ovary(9)|central_nervous_system(1)|pancreas(1)	11	c.(1447-1449)CGA>CAA			PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF4,hmmpanther:PTHR10127,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282,Superfamily_domains:SSF49899	cell recognition molecule Caspr2 precursor				ENSP00000354778		24-Sep	1.65E-05		8.67E-05			1.50E-05			rs777884519,COSM1086966	24-Sep	.		ENST00000361727	Transcript	1		behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	ENSG00000174469	g.chr7:146997332G>A	13830			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=CNTP2_HUMAN&rb=401&re=529&var=R483Q	getma.org/pdb.php?prot=CNTP2_HUMAN&from=401&to=529&var=R483Q	getma.org/?cm=var&var=hg19,7,146997332,G,A&fts=all	R483Q	--	--	1				HNSCC(39;0.1)																															0,1	1		benign(0.058)	p.R483Q	NM_014141	NP_054860		tolerated(0.68)	0,1	CNTP2_HUMAN	CNTNAP2	HGNC	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		Q9UDV4_HUMAN,Q96T77_HUMAN,Q86UL9_HUMAN,Q86UL6_HUMAN,Q86UL4_HUMAN,Q86UJ1_HUMAN,Q86UI8_HUMAN,Q75MQ9_HUMAN,Q75MF8_HUMAN,Q75MF6_HUMAN,Q75MD4_HUMAN,Q75MA1_HUMAN,Q75M92_HUMAN,Q75LG9_HUMAN,O75852_HUMAN,B7Z1Y6_HUMAN		9	1964	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	UPI00001285FA	483			Extracellular (Potential).|Laminin G-like 2.		SNV	CNTNAP2,missense_variant,p.Arg483Gln,ENST00000361727,NM_014141.5;	uc003weu.1	c.1448G>A	1964/9894	1	1			c.1448G>A						7	SNP	c.(1447-1449)CGA>CAA	61	61			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Broad	cell recognition molecule Caspr2 precursor			146997332		0.423	ENSG00000174469	3584	g.chr7:146997332G>A	behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding							120.61315	KEEP	25	30	-1	105	110	25	30	-1	139.52257	105	110	0.208333	1	0	0	0	0	1	0	0	0	--	--	HNSCC(39;0.1)	0	A				26	GBM-06-0154-TP	p.R483Q	G	TCAGCAGTTCGAACTAATAGT	NM_014141	NP_054860	146997332	Q9UHC6	CNTP2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		9	1964	+	A	A	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	Missense_Mutation	483			Extracellular (Potential).|Laminin G-like 2.			
CNTNAP2	26047	broad.mit.edu	GRCh37	7	147914464	147914464	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0173-01	TCGA-06-0173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361727.3:c.3095G>T	p.Arg1032Ile	p.R1032I	ENST00000361727	NM_014141.5	1032	aGa/aTa	0			1			T	R/I	uc003weu.1	protein_coding	YES	CCDS5889.1			3095/3996									ovary(9)|central_nervous_system(1)|pancreas(1)	11	c.(3094-3096)AGA>ATA			PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF4,hmmpanther:PTHR10127,Gene3D:2.60.120.200,Superfamily_domains:SSF49899	cell recognition molecule Caspr2 precursor				ENSP00000354778		19/24									COSM3411764	19/24	.		ENST00000361727	Transcript	1		behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	ENSG00000174469	g.chr7:147914464G>T	13830			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=CNTP2_HUMAN&rb=946&re=1054&var=R1032I	NA	getma.org/?cm=var&var=hg19,7,147914464,G,T&fts=all	R1032I	--	--	1				HNSCC(39;0.1)																															1	1		benign(0.158)	p.R1032I	NM_014141	NP_054860		tolerated(0.43)	1	CNTP2_HUMAN	CNTNAP2	HGNC	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		Q9UDV4_HUMAN,Q96T77_HUMAN,Q86UL9_HUMAN,Q86UL6_HUMAN,Q86UL4_HUMAN,Q86UJ1_HUMAN,Q86UI8_HUMAN,Q75MQ9_HUMAN,Q75MF8_HUMAN,Q75MF6_HUMAN,Q75MD4_HUMAN,Q75MA1_HUMAN,Q75M92_HUMAN,Q75LG9_HUMAN,O75852_HUMAN,B7Z1Y6_HUMAN		19	3611	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	UPI00001285FA	1032			Extracellular (Potential).		SNV	CNTNAP2,missense_variant,p.Arg1032Ile,ENST00000361727,NM_014141.5;CNTNAP2,missense_variant,p.Arg91Ile,ENST00000538075,;	uc003weu.1	c.3095G>T	3611/9894	1	1			c.3095G>T						7	SNP	c.(3094-3096)AGA>ATA	6	6			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Broad	cell recognition molecule Caspr2 precursor			147914464		0.532	ENSG00000174469	3584	g.chr7:147914464G>T	behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding							-24.038001	KEEP	9	10	0.473684211	132	157	9	10	0.473684211	30.073173	132	157	0.059925	1	0	0	0	0	1	0	0	0	--	--	HNSCC(39;0.1)	0	T				36	GBM-06-0173-TP	p.R1032I	G	TCCAGCAGCAGAGTAGACAAC	NM_014141	NP_054860	147914464	Q9UHC6	CNTP2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		19	3611	+	T	T	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	Missense_Mutation	1032			Extracellular (Potential).			
CNTNAP2	0	broad.mit.edu	GRCh37	7	146741054	146741054	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01	TCGA-12-1597-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361727.3:c.458C>T	p.Pro153Leu	p.P153L	ENST00000361727	NM_014141.5	153	cCg/cTg	0			1			T	P/L	uc003weu.1	protein_coding	YES	CCDS5889.1			458/3996									ovary(9)|central_nervous_system(1)|pancreas(1)	11	c.(457-459)CCG>CTG			PROSITE_profiles:PS50022,hmmpanther:PTHR10127:SF4,hmmpanther:PTHR10127,Gene3D:2.60.120.260,Pfam_domain:PF00754,SMART_domains:SM00231,Superfamily_domains:SSF49785	cell recognition molecule Caspr2 precursor				ENSP00000354778		24-Apr	8.24E-06							6.06E-05	rs769256063,COSM3411756	24-Apr	.		ENST00000361727	Transcript	1		behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	ENSG00000174469	g.chr7:146741054C>T	13830			MODERATE		4.125	high	getma.org/?cm=msa&ty=f&p=CNTP2_HUMAN&rb=47&re=178&var=P153L	getma.org/pdb.php?prot=CNTP2_HUMAN&from=47&to=178&var=P153L	getma.org/?cm=var&var=hg19,7,146741054,C,T&fts=all	P153L	--	--	1				HNSCC(39;0.1)																															0,1	1		benign(0.214)	p.P153L	NM_014141	NP_054860		deleterious(0.03)	0,1	CNTP2_HUMAN	CNTNAP2	HGNC	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		Q9UDV4_HUMAN,Q96T77_HUMAN,Q86UL9_HUMAN,Q86UL6_HUMAN,Q86UL4_HUMAN,Q86UJ1_HUMAN,Q86UI8_HUMAN,Q75MQ9_HUMAN,Q75MF8_HUMAN,Q75MF6_HUMAN,Q75MD4_HUMAN,Q75MA1_HUMAN,Q75M92_HUMAN,Q75LG9_HUMAN,O75852_HUMAN,B7Z1Y6_HUMAN		4	974	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	UPI00001285FA	153			F5/8 type C.|Extracellular (Potential).		SNV	CNTNAP2,missense_variant,p.Pro153Leu,ENST00000361727,NM_014141.5;	uc003weu.1	c.458C>T	974/9894	2	2			c.458C>T						7	SNP	c.(457-459)CCG>CTG	29	29			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Broad	cell recognition molecule Caspr2 precursor			146741054		0.423	ENSG00000174469	3584	g.chr7:146741054C>T	behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding							222.156478	KEEP	46	34	-1	119	78	46	34	-1	231.018384	119	78	0.299595	1	0	0	0	0	1	0	0	0	--	--	HNSCC(39;0.1)	0	T				124	GBM-12-1597-TP	p.P153L	C	TTACAGCATCCGATTATTGCC	NM_014141	NP_054860	146741054	Q9UHC6	CNTP2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		4	974	+	T	T	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	Missense_Mutation	153			F5/8 type C.|Extracellular (Potential).			
CNTNAP2	0	broad.mit.edu	GRCh37	7	147092850	147092850	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-12-5295-01	TCGA-12-5295-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361727.3:c.1648G>C	p.Asp550His	p.D550H	ENST00000361727	NM_014141.5	550	Gac/Cac	0			1			C	D/H	uc003weu.1	protein_coding	YES	CCDS5889.1			1648/3996									ovary(9)|central_nervous_system(1)|pancreas(1)	11	c.(1648-1650)GAC>CAC			PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF4,hmmpanther:PTHR10127,Gene3D:2.60.120.200,Superfamily_domains:SSF49899	cell recognition molecule Caspr2 precursor				ENSP00000354778		24-Oct									COSM3411758	24-Oct	.		ENST00000361727	Transcript	1		behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	ENSG00000174469	g.chr7:147092850G>C	13830			MODERATE		2.78	medium	getma.org/?cm=msa&ty=f&p=CNTP2_HUMAN&rb=401&re=552&var=D550H	NA	getma.org/?cm=var&var=hg19,7,147092850,G,C&fts=all	D550H	--	--	1				HNSCC(39;0.1)																															1	1		probably_damaging(0.973)	p.D550H	NM_014141	NP_054860		deleterious(0)	1	CNTP2_HUMAN	CNTNAP2	HGNC	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		Q9UDV4_HUMAN,Q96T77_HUMAN,Q86UL9_HUMAN,Q86UL6_HUMAN,Q86UL4_HUMAN,Q86UJ1_HUMAN,Q86UI8_HUMAN,Q75MQ9_HUMAN,Q75MF8_HUMAN,Q75MF6_HUMAN,Q75MD4_HUMAN,Q75MA1_HUMAN,Q75M92_HUMAN,Q75LG9_HUMAN,O75852_HUMAN,B7Z1Y6_HUMAN		10	2164	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	UPI00001285FA	550			Extracellular (Potential).|Laminin G-like 2.		SNV	CNTNAP2,missense_variant,p.Asp550His,ENST00000361727,NM_014141.5;	uc003weu.1	c.1648G>C	2164/9894	3	3			c.1648G>C						7	SNP	c.(1648-1650)GAC>CAC	59	59			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Broad	cell recognition molecule Caspr2 precursor			147092850		0.428	ENSG00000174469	3584	g.chr7:147092850G>C	behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding							173.920545	KEEP	39	31	-1	137	140	39	31	-1	199.850323	137	140	0.197368	1	0	0	0	0	1	0	0	0	--	--	HNSCC(39;0.1)	0	C				129	GBM-12-5295-TP	p.D550H	G	TGTCAGCATTGACATGTGTGC	NM_014141	NP_054860	147092850	Q9UHC6	CNTP2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		10	2164	+	C	C	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	Missense_Mutation	550			Extracellular (Potential).|Laminin G-like 2.			
CNTNAP2	0	broad.mit.edu	GRCh37	7	146825899	146825899	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-5959-01	TCGA-19-5959-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361727.3:c.1054A>G	p.Arg352Gly	p.R352G	ENST00000361727	NM_014141.5	352	Aga/Gga	0			1			G	R/G	uc003weu.1	protein_coding	YES	CCDS5889.1			1054/3996									ovary(9)|central_nervous_system(1)|pancreas(1)	11	c.(1054-1056)AGA>GGA			PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF4,hmmpanther:PTHR10127	cell recognition molecule Caspr2 precursor				ENSP00000354778		24-Jul									COSM3411757	24-Jul	.		ENST00000361727	Transcript	1		behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	ENSG00000174469	g.chr7:146825899A>G	13830			MODERATE		1.465	low	getma.org/?cm=msa&ty=f&p=CNTP2_HUMAN&rb=216&re=368&var=R352G	getma.org/pdb.php?prot=CNTP2_HUMAN&from=216&to=368&var=R352G	getma.org/?cm=var&var=hg19,7,146825899,A,G&fts=all	R352G	--	--	1				HNSCC(39;0.1)																															1	1		benign(0.004)	p.R352G	NM_014141	NP_054860		deleterious(0)	1	CNTP2_HUMAN	CNTNAP2	HGNC	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		Q9UDV4_HUMAN,Q96T77_HUMAN,Q86UL9_HUMAN,Q86UL6_HUMAN,Q86UL4_HUMAN,Q86UJ1_HUMAN,Q86UI8_HUMAN,Q75MQ9_HUMAN,Q75MF8_HUMAN,Q75MF6_HUMAN,Q75MD4_HUMAN,Q75MA1_HUMAN,Q75M92_HUMAN,Q75LG9_HUMAN,O75852_HUMAN,B7Z1Y6_HUMAN		7	1570	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	UPI00001285FA	352			Laminin G-like 1.|Extracellular (Potential).		SNV	CNTNAP2,missense_variant,p.Arg352Gly,ENST00000361727,NM_014141.5;	uc003weu.1	c.1054A>G	1570/9894	3	3			c.1054A>G						7	SNP	c.(1054-1056)AGA>GGA	5	5			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Broad	cell recognition molecule Caspr2 precursor			146825899		0.388	ENSG00000174469	3584	g.chr7:146825899A>G	behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding							136.185727	KEEP	22	34	-1	77	78	22	34	-1	145.769944	77	78	0.262032	1	0	0	0	0	1	0	0	0	--	--	HNSCC(39;0.1)	0	G				177	GBM-19-5959-TP	p.R352G	A	TGATCTTGCCAGAAGGAAGAA	NM_014141	NP_054860	146825899	Q9UHC6	CNTP2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		7	1570	+	G	G	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	Missense_Mutation	352			Laminin G-like 1.|Extracellular (Potential).			
CNTNAP2	0	broad.mit.edu	GRCh37	7	147336290	147336290	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01	TCGA-32-1977-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361727.3:c.1990G>A	p.Val664Ile	p.V664I	ENST00000361727	NM_014141.5	664	Gtt/Att	0		A:0	1	A:0		A	V/I	uc003weu.1	protein_coding	YES	CCDS5889.1			1990/3996									ovary(9)|central_nervous_system(1)|pancreas(1)	11	c.(1990-1992)GTT>ATT			hmmpanther:PTHR10127:SF4,hmmpanther:PTHR10127	cell recognition molecule Caspr2 precursor		A:0.001		ENSP00000354778	A:0.001	13/24	7.41E-05			0.000116		4.50E-05		0.000303	rs201934244,COSM3411760	13/24	.		ENST00000361727	Transcript	1	A:0.0004	behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	ENSG00000174469	g.chr7:147336290G>A	13830			MODERATE		-0.11	neutral	getma.org/?cm=msa&ty=f&p=CNTP2_HUMAN&rb=592&re=798&var=V664I	NA	getma.org/?cm=var&var=hg19,7,147336290,G,A&fts=all	V664I	--	--	1				HNSCC(39;0.1)																															0,1	1		benign(0)	p.V664I	NM_014141	NP_054860	A:0	tolerated(0.12)	0,1	CNTP2_HUMAN	CNTNAP2	HGNC	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		Q9UDV4_HUMAN,Q96T77_HUMAN,Q86UL9_HUMAN,Q86UL6_HUMAN,Q86UL4_HUMAN,Q86UJ1_HUMAN,Q86UI8_HUMAN,Q75MQ9_HUMAN,Q75MF8_HUMAN,Q75MF6_HUMAN,Q75MD4_HUMAN,Q75MA1_HUMAN,Q75M92_HUMAN,Q75LG9_HUMAN,O75852_HUMAN,B7Z1Y6_HUMAN		13	2506	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	UPI00001285FA	664			Extracellular (Potential).|Fibrinogen C-terminal.		SNV	CNTNAP2,missense_variant,p.Val664Ile,ENST00000361727,NM_014141.5;CNTNAP2,missense_variant,p.Val55Ile,ENST00000455301,;	uc003weu.1	c.1990G>A	2506/9894	2	2			c.1990G>A						7	SNP	c.(1990-1992)GTT>ATT	39	39			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Broad	cell recognition molecule Caspr2 precursor			147336290		0.498	ENSG00000174469	3584	g.chr7:147336290G>A	behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding							71.821628	KEEP	15	17	-1	60	57	15	17	-1	81.476256	60	57	0.22695	1	0	0	0	0	1	0	0	0	--	--	HNSCC(39;0.1)	0	A				229	GBM-32-1977-TP	p.V664I	G	GACACAGCTCGTTTACAGCGC	NM_014141	NP_054860	147336290	Q9UHC6	CNTP2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		13	2506	+	A	A	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	Missense_Mutation	664			Extracellular (Potential).|Fibrinogen C-terminal.			
CNTNAP2	0	broad.mit.edu	GRCh37	7	147259237	147259237	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361727.3:c.1785C>T	p.Tyr595=	p.Y595=	ENST00000361727	NM_014141.5	595	taC/taT	0			1			T	Y	uc003weu.1	protein_coding	YES	CCDS5889.1			1785/3996									ovary(9)|central_nervous_system(1)|pancreas(1)	11	c.(1783-1785)TAC>TAT			PROSITE_profiles:PS51406,hmmpanther:PTHR10127:SF4,hmmpanther:PTHR10127,Gene3D:2.60.120.200,Superfamily_domains:SSF56496	cell recognition molecule Caspr2 precursor				ENSP00000354778		24-Dec	1.65E-05			0.000116				6.06E-05	rs781574808,COSM3411759	24-Dec	.		ENST00000361727	Transcript	1		behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	ENSG00000174469	g.chr7:147259237C>T	13830			LOW								--	--	1				HNSCC(39;0.1)																															0,1	1			p.Y595Y	NM_014141	NP_054860			0,1	CNTP2_HUMAN	CNTNAP2	HGNC	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		Q9UDV4_HUMAN,Q96T77_HUMAN,Q86UL9_HUMAN,Q86UL6_HUMAN,Q86UL4_HUMAN,Q86UJ1_HUMAN,Q86UI8_HUMAN,Q75MQ9_HUMAN,Q75MF8_HUMAN,Q75MF6_HUMAN,Q75MD4_HUMAN,Q75MA1_HUMAN,Q75M92_HUMAN,Q75LG9_HUMAN,O75852_HUMAN,B7Z1Y6_HUMAN		12	2301	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	UPI00001285FA	595			Extracellular (Potential).|Fibrinogen C-terminal.		SNV	CNTNAP2,synonymous_variant,p.=,ENST00000361727,NM_014141.5;	uc003weu.1	c.1785C>T	2301/9894	1	1			c.1785C>T						7	SNP	c.(1783-1785)TAC>TAT	1	1			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Broad	cell recognition molecule Caspr2 precursor			147259237		0.448	ENSG00000174469	3584	g.chr7:147259237C>T	behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding							14.300867	KEEP	5	4	-1	14	22	5	4	-1	17.857243	14	22	0.184211	1	0	0	0	0	0	0	1	0	--	--	HNSCC(39;0.1)	0	T				230	GBM-32-1979-TP	p.Y595Y	C	TAGCTATCTACGAGCCTTCCT	NM_014141	NP_054860	147259237	Q9UHC6	CNTP2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		12	2301	+	T	T	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	Silent	595			Extracellular (Potential).|Fibrinogen C-terminal.			
CNTNAP2	0	broad.mit.edu	GRCh37	7	147844679	147844679	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01	TCGA-41-5651-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361727.3:c.2651G>A	p.Arg884Gln	p.R884Q	ENST00000361727	NM_014141.5	884	cGg/cAg	0			1			A	R/Q	uc003weu.1	protein_coding	YES	CCDS5889.1			2651/3996									ovary(9)|central_nervous_system(1)|pancreas(1)	11	c.(2650-2652)CGG>CAG			PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF4,hmmpanther:PTHR10127,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282,Superfamily_domains:SSF49899	cell recognition molecule Caspr2 precursor				ENSP00000354778		17/24	0.000239				0.00242	0.000195			rs758630057,COSM3411763	17/24	common_variant		ENST00000361727	Transcript	1		behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	ENSG00000174469	g.chr7:147844679G>A	13830			MODERATE		1.45	low	getma.org/?cm=msa&ty=f&p=CNTP2_HUMAN&rb=827&re=945&var=R884Q	getma.org/pdb.php?prot=CNTP2_HUMAN&from=827&to=945&var=R884Q	getma.org/?cm=var&var=hg19,7,147844679,G,A&fts=all	R884Q	--	--	1				HNSCC(39;0.1)																															0,1	1		benign(0.428)	p.R884Q	NM_014141	NP_054860		tolerated(0.23)	0,1	CNTP2_HUMAN	CNTNAP2	HGNC	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		Q9UDV4_HUMAN,Q96T77_HUMAN,Q86UL9_HUMAN,Q86UL6_HUMAN,Q86UL4_HUMAN,Q86UJ1_HUMAN,Q86UI8_HUMAN,Q75MQ9_HUMAN,Q75MF8_HUMAN,Q75MF6_HUMAN,Q75MD4_HUMAN,Q75MA1_HUMAN,Q75M92_HUMAN,Q75LG9_HUMAN,O75852_HUMAN,B7Z1Y6_HUMAN		17	3167	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	UPI00001285FA	884			Laminin G-like 3.|Extracellular (Potential).		SNV	CNTNAP2,missense_variant,p.Arg884Gln,ENST00000361727,NM_014141.5;CNTNAP2,5_prime_UTR_variant,,ENST00000538075,;	uc003weu.1	c.2651G>A	3167/9894	2	2			c.2651G>A						7	SNP	c.(2650-2652)CGG>CAG	35	35			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Broad	cell recognition molecule Caspr2 precursor			147844679		0.582	ENSG00000174469	3584	g.chr7:147844679G>A	behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding							96.010012	KEEP	15	23	-1	50	64	15	23	-1	104.216853	50	64	0.25	1	0	0	0	0	1	0	0	0	--	--	HNSCC(39;0.1)	0	A				258	GBM-41-5651-TP	p.R884Q	G	CAGTGGCACCGGGTCACTGCA	NM_014141	NP_054860	147844679	Q9UHC6	CNTP2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		17	3167	+	A	A	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	Missense_Mutation	884			Laminin G-like 3.|Extracellular (Potential).			
CNTNAP2	26047		GRCh37	7	147914501	147914501	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000361727.3:c.3132G>A	p.Pro1044=	p.P1044=	ENST00000361727	NM_014141.5	1044	ccG/ccA	0																																																																																																																																																																																																																																												
CNTNAP2	26047		GRCh37	7	146997320	146997320	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000361727.3:c.1436C>T	p.Ala479Val	p.A479V	ENST00000361727	NM_014141.5	479	gCa/gTa	0																																																																																																																																																																																																																																												
CNTNAP2	26047		GRCh37	7	146536869	146536869	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000361727.3:c.275G>A	p.Arg92Gln	p.R92Q	ENST00000361727	NM_014141.5	92	cGg/cAg	0																																																																																																																																																																																																																																												
CNTNAP2	26047		GRCh37	7	147183114	147183114	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000361727.3:c.1758T>G	p.Ser586Arg	p.S586R	ENST00000361727	NM_014141.5	586	agT/agG	0																																																																																																																																																																																																																																												
CNTNAP3	79937	broad.mit.edu	GRCh37	9	39078395	39078396	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	-			TCGA-06-2567-01	TCGA-06-2567-01	AG	AG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297668.6:c.3731_3732del	p.Ser1244CysfsTer35	p.S1244Cfs*35	ENST00000297668	NM_033655.3	1244	tCT/t	0			1			-	S/X	uc004abi.2	protein_coding	YES	CCDS6616.1			3731-3732/3867									ovary(1)	1	c.(3730-3732)TCTfs			Transmembrane_helices:TMhelix,hmmpanther:PTHR10127:SF612,hmmpanther:PTHR10127	cell recognition molecule CASPR3 precursor				ENSP00000297668		23/24									COSM1109155	23/24	.		ENST00000297668	Transcript			cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	ENSG00000106714	g.chr9:39078395_39078396delAG	13834			HIGH								--	--	1																																		CNTNAP3_uc004abj.2_Frame_Shift_Del_p.S1163fs|CNTNAP3_uc011lqr.1_RNA	1	1			p.S1244fs	NM_033655	NP_387504			1	CNTP3_HUMAN	CNTNAP3	HGNC	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)			23	3970_3971	-			UPI000013E43B	1244			Extracellular (Potential).		deletion	CNTNAP3,frameshift_variant,p.Ser1244CysfsTer35,ENST00000297668,NM_033655.3;CNTNAP3,frameshift_variant,p.Ser1163CysfsTer35,ENST00000377656,;CNTNAP3,non_coding_transcript_exon_variant,,ENST00000493965,;CNTNAP3,downstream_gene_variant,,ENST00000477002,;	uc004abi.2	c.3731_3732delCT	3805-3806/5064	5	5			c.3731_3732delCT						9	DEL	c.(3730-3732)TCTfs	64	64			ovary(1)	1	Broad	cell recognition molecule CASPR3 precursor			39078396		0.416	ENSG00000106714	3585	g.chr9:39078395_39078396delAG	cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding																				0.32	1	1	0	1	0	0	0	0	0	--	--		0	-			CNTNAP3_uc004abj.2_Frame_Shift_Del_p.S1163fs|CNTNAP3_uc011lqr.1_RNA	89	GBM-06-2567-TP	p.S1244fs	AG	CGATGACAGCAGAGTCTCTTCT	NM_033655	NP_387504	39078395	Q9BZ76	CNTP3_HUMAN	0		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	23	3970_3971	-	-	-			Frame_Shift_Del	1244			Extracellular (Potential).			
CNTNAP3	79937	broad.mit.edu	GRCh37	9	39103796	39103796	+	synonymous_variant	Silent	SNP	G	G	A	rs145100345	byFrequency;by1000genomes	TCGA-06-5408-01	TCGA-06-5408-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297668.6:c.2481C>T	p.Ser827=	p.S827=	ENST00000297668	NM_033655.3	827	tcC/tcT	0	A:0.0009	A:0.0015	1	A:0		A	S	uc004abi.2	protein_coding	YES	CCDS6616.1			2481/3867									ovary(1)	1	c.(2479-2481)TCC>TCT			PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF612,hmmpanther:PTHR10127,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899	cell recognition molecule CASPR3 precursor		A:0.002	A:0.0007	ENSP00000297668	A:0.002	16/24	0.00211	0.00181	0.0028	0.00093	0.000917	0.00147	0.00226	0.00437	rs145100345,COSM1109163,COSM3367726	16/24	common_variant		ENST00000297668	Transcript		A:0.0022	cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	ENSG00000106714	g.chr9:39103796G>A	13834			LOW								--	--	1																																		CNTNAP3_uc004abj.2_Silent_p.S826S|CNTNAP3_uc011lqr.1_RNA|CNTNAP3_uc004abk.1_Silent_p.S827S	0,1,1	1			p.S827S	NM_033655	NP_387504	A:0.0051		0,1,1	CNTP3_HUMAN	CNTNAP3	HGNC	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)			16	2720	-			UPI000013E43B	827			Extracellular (Potential).|Laminin G-like 3.		SNV	CNTNAP3,synonymous_variant,p.=,ENST00000297668,NM_033655.3;CNTNAP3,synonymous_variant,p.=,ENST00000358144,;CNTNAP3,synonymous_variant,p.=,ENST00000377656,;CNTNAP3,non_coding_transcript_exon_variant,,ENST00000483502,;CNTNAP3,non_coding_transcript_exon_variant,,ENST00000448573,;CNTNAP3,non_coding_transcript_exon_variant,,ENST00000495573,;CNTNAP3,3_prime_UTR_variant,,ENST00000443583,;	uc004abi.2	c.2481C>T	2555/5064	1	1			c.2481C>T						9	SNP	c.(2479-2481)TCC>TCT	49	49			ovary(1)	1	Broad	cell recognition molecule CASPR3 precursor			39103796		0.483	ENSG00000106714	3585	g.chr9:39103796G>A	cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding							29.335265	KEEP	7	7	-1	24	16	7	7	-1	30.777511	24	16	0.285714	1	0	0	0	0	0	0	1	0	--	--		0	A			CNTNAP3_uc004abj.2_Silent_p.S826S|CNTNAP3_uc011lqr.1_RNA|CNTNAP3_uc004abk.1_Silent_p.S827S	92	GBM-06-5408-TP	p.S827S	G	TAAACACCCCGGAGGAAACTG	NM_033655	NP_387504	39103796	Q9BZ76	CNTP3_HUMAN	0		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	16	2720	-	A	A			Silent	827			Extracellular (Potential).|Laminin G-like 3.			
CNTNAP3	0	broad.mit.edu	GRCh37	9	39099958	39099959	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C			TCGA-27-1832-01	TCGA-27-1832-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297668.6:c.2944dupG	p.Val982GlyfsTer4	p.V982Gfs*4	ENST00000297668	NM_033655.3	982	gtc/gGtc	0			1			C	V/GX	uc004abi.2	protein_coding	YES	CCDS6616.1			2944-2945/3867									ovary(1)	1	c.(2944-2946)GTCfs			PROSITE_profiles:PS50026,hmmpanther:PTHR10127:SF612,hmmpanther:PTHR10127,Gene3D:2gy5A03,SMART_domains:SM00181,Superfamily_domains:SSF49899	cell recognition molecule CASPR3 precursor				ENSP00000297668		18/24										18/24	.		ENST00000297668	Transcript			cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	ENSG00000106714	g.chr9:39099958_39099959insC	13834			HIGH								--	--	1																																		CNTNAP3_uc004abj.2_Intron|CNTNAP3_uc011lqr.1_RNA|CNTNAP3_uc004abk.1_Frame_Shift_Ins_p.V982fs		1			p.V982fs	NM_033655	NP_387504				CNTP3_HUMAN	CNTNAP3	HGNC	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)			18	3183_3184	-			UPI000013E43B	982			EGF-like 2.|Extracellular (Potential).		insertion	CNTNAP3,frameshift_variant,p.Val982GlyfsTer4,ENST00000297668,NM_033655.3;CNTNAP3,frameshift_variant,p.Val894GlyfsTer4,ENST00000358144,;CNTNAP3,intron_variant,,ENST00000377656,;CNTNAP3,non_coding_transcript_exon_variant,,ENST00000483502,;CNTNAP3,downstream_gene_variant,,ENST00000448573,;CNTNAP3,downstream_gene_variant,,ENST00000495573,;CNTNAP3,downstream_gene_variant,,ENST00000443583,;	uc004abi.2	c.2944_2945insG	3018-3019/5064	5	5			c.2944_2945insG						9	INS	c.(2944-2946)GTCfs	43	43			ovary(1)	1	Broad	cell recognition molecule CASPR3 precursor			39099959		0.535	ENSG00000106714	3585	g.chr9:39099958_39099959insC	cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding																				0.23	1	0	0	1	1	0	0	0	0	--	--		0	C			CNTNAP3_uc004abj.2_Intron|CNTNAP3_uc011lqr.1_RNA|CNTNAP3_uc004abk.1_Frame_Shift_Ins_p.V982fs	191	GBM-27-1832-TP	p.V982fs	-	GTCACAGGTGACCCCCCTGCGT	NM_033655	NP_387504	39099958	Q9BZ76	CNTP3_HUMAN	0		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	18	3183_3184	-	C	C			Frame_Shift_Ins	982			EGF-like 2.|Extracellular (Potential).			
CNTNAP4	85445		GRCh37	16	76486640	76486640	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000478060.1:c.1088G>A	p.Gly363Glu	p.G363E	ENST00000478060	NM_138994.3	363	gGa/gAa	0																																																																																																																																																																																																																																												
CNTNAP5	0	broad.mit.edu	GRCh37	2	125530374	125530374	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T			TCGA-06-6700-01	TCGA-06-6700-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000431078.1:c.2531-2A>T		p.X844_splice	ENST00000431078	NM_130773.3			0			1			T		uc002tno.2	protein_coding	YES	CCDS46401.1			2531/3921									ovary(10)	10	c.e17-2				contactin associated protein-like 5 precursor				ENSP00000399013											COSM3406839		.		ENST00000431078	Transcript			cell adhesion|signal transduction	integral to membrane	receptor binding	ENSG00000155052	g.chr2:125530374A>T	18748			HIGH	16/23							--	--	1																																		CNTNAP5_uc010flu.2_Splice_Site_p.S845_splice	1	1			p.S844_splice	NM_130773	NP_570129			1	CNTP5_HUMAN	CNTNAP5	HGNC	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)			17	2895	+			UPI0000071988						SNV	CNTNAP5,splice_acceptor_variant,,ENST00000431078,NM_130773.3;	uc002tno.2	c.2531_splice	-/5284	5	2			c.2531_splice						2	SNP	c.e17-2	17	17			ovary(10)	10	Broad	contactin associated protein-like 5 precursor			125530374		0.458	ENSG00000155052	3587	g.chr2:125530374A>T	cell adhesion|signal transduction	integral to membrane	receptor binding							-10.539628	KEEP	3	1	-1	46	34	3	1	-1	6.564027	46	34	0.04	1	0	0	0	0	0	0	0	1	--	--		0	T			CNTNAP5_uc010flu.2_Splice_Site_p.S845_splice	114	GBM-06-6700-TP	p.S844_splice	A	TTCCGGTTTCAGCTCCTTCAG	NM_130773	NP_570129	125530374	Q8WYK1	CNTP5_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.248)	17	2895	+	T	T			Splice_Site							
CNTNAP5	0	broad.mit.edu	GRCh37	2	125405459	125405459	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-1823-01	TCGA-14-1823-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000431078.1:c.1998C>T	p.Ala666=	p.A666=	ENST00000431078	NM_130773.3	666	gcC/gcT	0	T:0		1			T	A	uc002tno.2	protein_coding	YES	CCDS46401.1			1998/3921									ovary(10)	10	c.(1996-1998)GCC>GCT			hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF605	contactin associated protein-like 5 precursor			T:0.0002	ENSP00000399013		13/24	4.13E-05					7.30E-05		7.27E-05	rs368582483,COSM3406837	13/24	.		ENST00000431078	Transcript			cell adhesion|signal transduction	integral to membrane	receptor binding	ENSG00000155052	g.chr2:125405459C>T	18748			LOW								--	--	1																																		CNTNAP5_uc010flu.2_Silent_p.A667A	0,1	1			p.A666A	NM_130773	NP_570129			0,1	CNTP5_HUMAN	CNTNAP5	HGNC	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)			13	2362	+			UPI0000071988	666			Extracellular (Potential).|Fibrinogen C-terminal.		SNV	CNTNAP5,synonymous_variant,p.=,ENST00000431078,NM_130773.3;	uc002tno.2	c.1998C>T	2362/5284	1	1			c.1998C>T						2	SNP	c.(1996-1998)GCC>GCT	5	5			ovary(10)	10	Broad	contactin associated protein-like 5 precursor			125405459		0.622	ENSG00000155052	3587	g.chr2:125405459C>T	cell adhesion|signal transduction	integral to membrane	receptor binding							8.651746	KEEP	3	2	-1	19	13	3	2	-1	12.26607	19	13	0.15625	1	0	0	0	0	0	0	1	0	--	--		0	T			CNTNAP5_uc010flu.2_Silent_p.A667A	147	GBM-14-1823-TP	p.A666A	C	AGCTGGAGGCCGTGATCGACG	NM_130773	NP_570129	125405459	Q8WYK1	CNTP5_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.248)	13	2362	+	T	T			Silent	666			Extracellular (Potential).|Fibrinogen C-terminal.			
CNTNAP5	0	broad.mit.edu	GRCh37	2	125530385	125530385	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-2632-01	TCGA-32-2632-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000431078.1:c.2540A>G	p.Glu847Gly	p.E847G	ENST00000431078	NM_130773.3	847	gAg/gGg	0			1			G	E/G	uc002tno.2	protein_coding	YES	CCDS46401.1			2540/3921									ovary(10)	10	c.(2539-2541)GAG>GGG			PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF605,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899	contactin associated protein-like 5 precursor				ENSP00000399013		17/24									COSM3406840	17/24	.		ENST00000431078	Transcript			cell adhesion|signal transduction	integral to membrane	receptor binding	ENSG00000155052	g.chr2:125530385A>G	18748			MODERATE		2.935	medium	getma.org/?cm=msa&ty=f&p=CNTP5_HUMAN&rb=819&re=938&var=E847G	getma.org/pdb.php?prot=CNTP5_HUMAN&from=819&to=938&var=E847G	getma.org/?cm=var&var=hg19,2,125530385,A,G&fts=all	E847G	--	--	1																																		CNTNAP5_uc010flu.2_Missense_Mutation_p.E848G	1	1		probably_damaging(0.952)	p.E847G	NM_130773	NP_570129		deleterious(0.03)	1	CNTP5_HUMAN	CNTNAP5	HGNC	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)			17	2904	+			UPI0000071988	847			Laminin G-like 3.|Extracellular (Potential).		SNV	CNTNAP5,missense_variant,p.Glu847Gly,ENST00000431078,NM_130773.3;	uc002tno.2	c.2540A>G	2904/5284	3	3			c.2540A>G						2	SNP	c.(2539-2541)GAG>GGG	6	6			ovary(10)	10	Broad	contactin associated protein-like 5 precursor			125530385		0.488	ENSG00000155052	3587	g.chr2:125530385A>G	cell adhesion|signal transduction	integral to membrane	receptor binding							82.736389	KEEP	16	15	-1	61	43	16	15	-1	91.485731	61	43	0.224	1	0	0	0	0	1	0	0	0	--	--		0	G			CNTNAP5_uc010flu.2_Missense_Mutation_p.E848G	240	GBM-32-2632-TP	p.E847G	A	GCTCCTTCAGAGATCACCTTT	NM_130773	NP_570129	125530385	Q8WYK1	CNTP5_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.248)	17	2904	+	G	G			Missense_Mutation	847			Laminin G-like 3.|Extracellular (Potential).			
CNTNAP5	129684		GRCh37	2	125504853	125504853	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000431078.1:c.2122C>A	p.Pro708Thr	p.P708T	ENST00000431078	NM_130773.3	708	Cct/Act	0																																																																																																																																																																																																																																												
CNTNAP5	129684		GRCh37	2	125530548	125530548	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000431078.1:c.2703G>A	p.Ser901=	p.S901=	ENST00000431078	NM_130773.3	901	tcG/tcA	0																																																																																																																																																																																																																																												
CNTRL	0	broad.mit.edu	GRCh37	9	123912528	123912528	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs145241861	by1000genomes	TCGA-41-2573-01	TCGA-41-2573-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000238341.5:c.3730T>C	p.Tyr1244His	p.Y1244H	ENST00000238341	NM_007018.4	1244	Tac/Cac	0	C:0	C:0	1	C:0		C	Y/H	uc004bkx.1	protein_coding		CCDS35118.1			3730/6978										0	c.(3730-3732)TAC>CAC			hmmpanther:PTHR18877,hmmpanther:PTHR18877:SF1	centrosomal protein 110kDa		C:0	C:0.0001	ENSP00000238341	C:0.001	23/42	8.24E-06					1.50E-05			rs145241861,COSM3413312,COSM3413311	23/42	.		ENST00000238341	Transcript		C:0.0002	cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	ENSG00000119397	g.chr9:123912528T>C	1858			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=CNTRL_HUMAN&rb=1201&re=1400&var=Y1244H	NA	getma.org/?cm=var&var=hg19,9,123912528,T,C&fts=all	Y1244H	--	--	1																																		CEP110_uc004bky.1_Missense_Mutation_p.Y848H|CEP110_uc004bla.1_Missense_Mutation_p.Y692H|CEP110_uc010mvo.1_5'UTR|CEP110_uc004blb.1_5'Flank	0,1,1			possibly_damaging(0.862)	p.Y1244H	NM_007018	NP_008949	C:0		0,1,1	CNTRL_HUMAN	CNTRL	HGNC	Q7Z7A1	CNTRL_HUMAN			Q5JVD3_HUMAN,Q5JVD6_HUMAN,Q5JVD1_HUMAN		23	3761	+			UPI0000211718	1244			Pro-rich.		SNV	CNTRL,missense_variant,p.Tyr1244His,ENST00000373855,;CNTRL,missense_variant,p.Tyr1244His,ENST00000238341,NM_007018.4;CNTRL,missense_variant,p.Tyr692His,ENST00000373850,;CNTRL,missense_variant,p.Tyr692His,ENST00000373847,;CNTRL,5_prime_UTR_variant,,ENST00000431571,;CNTRL,upstream_gene_variant,,ENST00000373845,;CNTRL,non_coding_transcript_exon_variant,,ENST00000373851,;	uc004bkx.1	c.3730T>C	3761/7431	3	3			c.3730T>C						9	SNP	c.(3730-3732)TAC>CAC	12	12				0	Broad	centrosomal protein 110kDa			123912528		0.502	ENSG00000119397	3185	g.chr9:123912528T>C	cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			584			584	-19.751911	KEEP	4	4	-1	93	89	4	4	-1	21.048806	93	89	0.043716	1	0	0	0	0	1	0	0	0	--	--		0	C			CEP110_uc004bky.1_Missense_Mutation_p.Y848H|CEP110_uc004bla.1_Missense_Mutation_p.Y692H|CEP110_uc010mvo.1_5'UTR|CEP110_uc004blb.1_5'Flank	252	GBM-41-2573-TP	p.Y1244H	T	TCCTCCTGGATACATGATGTA	NM_007018	NP_008949	123912528	Q7Z7A1	CNTRL_HUMAN	0			23	3761	+	C	C			Missense_Mutation	1244			Pro-rich.			
CNTRL	11064		GRCh37	9	123930543	123930543	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000373855.1:c.6014C>G	p.Thr2005Ser	p.T2005S	ENST00000373855		2005	aCt/aGt	0																																																																																																																																																																																																																																												
COA7	0	broad.mit.edu	GRCh37	1	53158443	53158443	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-15-1444-01	TCGA-15-1444-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371538.3:c.203G>A	p.Ser68Asn	p.S68N	ENST00000371538	NM_023077.2	68	aGt/aAt	0			1			T	S/N	uc001cui.1	protein_coding	YES	CCDS570.1			203/696										0	c.(202-204)AGT>AAT			Gene3D:1.25.40.10,Pfam_domain:PF08238,hmmpanther:PTHR13891,hmmpanther:PTHR13891:SF1,SMART_domains:SM00671,Superfamily_domains:SSF81901	hypothetical protein LOC65260				ENSP00000360593		3-Feb	8.24E-06					1.50E-05			COSM3400876	3-Feb	.		ENST00000371538	Transcript					binding	ENSG00000162377	g.chr1:53158443C>T	25716			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=SELR1_HUMAN&rb=68&re=103&var=S68N	NA	getma.org/?cm=var&var=hg19,1,53158443,C,T&fts=all	S68N	--	--	1																																			1	1		benign(0.114)	p.S68N	NM_023077	NP_075565		tolerated(0.05)	1	SELR1_HUMAN	COA7	HGNC	Q96BR5	SELR1_HUMAN					2	243	-			UPI0000034E0F	68			Sel1-like 2.		SNV	COA7,missense_variant,p.Ser68Asn,ENST00000371538,NM_023077.2;COA7,non_coding_transcript_exon_variant,,ENST00000486918,;	uc001cui.1	c.203G>A	243/1620	1	1			c.203G>A						1	SNP	c.(202-204)AGT>AAT	13	13				0	Broad	hypothetical protein LOC65260			53158443		0.502	ENSG00000162377	1968	g.chr1:53158443C>T			binding							84.607681	KEEP	16	21	-1	59	60	16	21	-1	92.820031	59	60	0.242647	1	0	0	0	0	1	0	0	0	--	--		0	T				154	GBM-15-1444-TP	p.S68N	C	GCAGCTATCACTGTGCTGGTT	NM_023077	NP_075565	53158443	Q96BR5	SELR1_HUMAN	0			2	243	-	T	T			Missense_Mutation	68			Sel1-like 2.			
COBL	23242	broad.mit.edu	GRCh37	7	51111289	51111289	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0190-01	TCGA-06-0190-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265136.7:c.1197G>A	p.Ala399=	p.A399=	ENST00000265136	NM_015198.3	399	gcG/gcA	0			1			T	A	uc003tpr.3	protein_coding	YES	CCDS34637.1			1197/3786									skin(3)|ovary(2)	5	c.(1195-1197)GCG>GCA			hmmpanther:PTHR21557,hmmpanther:PTHR21557:SF1	cordon-bleu homolog				ENSP00000265136		13-Aug	3.29E-05		0.000173			3.00E-05			rs770546382,COSM3374650,COSM3374651	13-Aug	.		ENST00000265136	Transcript						ENSG00000106078	g.chr7:51111289C>T	22199			LOW								--	--	1																																		COBL_uc003tps.2_Silent_p.A456A|COBL_uc011kcl.1_Silent_p.A399A|COBL_uc010kzc.2_Silent_p.A399A|COBL_uc003tpp.3_Silent_p.A185A|COBL_uc003tpq.3_Silent_p.A340A	0,1,1	1			p.A399A	NM_015198	NP_056013			0,1,1	COBL_HUMAN	COBL	HGNC	O75128	COBL_HUMAN			C9J9X1_HUMAN		8	1382	-	Glioma(55;0.08)		UPI00001A9480	399					SNV	COBL,synonymous_variant,p.=,ENST00000395542,;COBL,synonymous_variant,p.=,ENST00000265136,NM_015198.3;COBL,synonymous_variant,p.=,ENST00000431948,;COBL,synonymous_variant,p.=,ENST00000445054,;COBL,synonymous_variant,p.=,ENST00000452534,;	uc003tpr.3	c.1197G>A	1363/5291	1	1			c.1197G>A						7	SNP	c.(1195-1197)GCG>GCA	6	6			skin(3)|ovary(2)	5	Broad	cordon-bleu homolog			51111289		0.607	ENSG00000106078	3590	g.chr7:51111289C>T				NSCLC(189;2119 2138 12223 30818 34679)			NSCLC(189;2119 2138 12223 30818 34679)			73.802543	KEEP	19	13	-1	47	58	19	13	-1	81.686801	47	58	0.238095	1	0	0	0	0	0	0	1	0	--	--		0	T			COBL_uc003tps.2_Silent_p.A456A|COBL_uc011kcl.1_Silent_p.A399A|COBL_uc010kzc.2_Silent_p.A399A|COBL_uc003tpp.3_Silent_p.A185A|COBL_uc003tpq.3_Silent_p.A340A	43	GBM-06-0190-TP	p.A399A	C	TGTCCTCCGACGCAAAACAGC	NM_015198	NP_056013	51111289	O75128	COBL_HUMAN	0			8	1382	-	T	T	Glioma(55;0.08)		Silent	399						
COBL	23242	broad.mit.edu	GRCh37	7	51096735	51096735	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-2567-01	TCGA-06-2567-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265136.7:c.2058A>G	p.Thr686=	p.T686=	ENST00000265136	NM_015198.3	686	acA/acG	0			1			C	T	uc003tpr.3	protein_coding	YES	CCDS34637.1			2058/3786									skin(3)|ovary(2)	5	c.(2056-2058)ACA>ACG			hmmpanther:PTHR21557,hmmpanther:PTHR21557:SF1	cordon-bleu homolog				ENSP00000265136		13-Oct	8.24E-06					1.50E-05			rs759377799,COSM2153096,COSM3412151	13-Oct	.		ENST00000265136	Transcript						ENSG00000106078	g.chr7:51096735T>C	22199			LOW								--	--	1																																		COBL_uc003tps.2_Silent_p.T743T|COBL_uc011kcl.1_Silent_p.T686T|COBL_uc003tpp.3_Silent_p.T472T|COBL_uc003tpq.3_Silent_p.T627T|COBL_uc003tpo.3_Silent_p.T228T	0,1,1	1			p.T686T	NM_015198	NP_056013			0,1,1	COBL_HUMAN	COBL	HGNC	O75128	COBL_HUMAN			C9J9X1_HUMAN		10	2243	-	Glioma(55;0.08)		UPI00001A9480	686					SNV	COBL,synonymous_variant,p.=,ENST00000395542,;COBL,synonymous_variant,p.=,ENST00000265136,NM_015198.3;COBL,synonymous_variant,p.=,ENST00000431948,;COBL,synonymous_variant,p.=,ENST00000445054,;COBL,downstream_gene_variant,,ENST00000452534,;COBL,non_coding_transcript_exon_variant,,ENST00000462395,;	uc003tpr.3	c.2058A>G	2224/5291	3	3			c.2058A>G						7	SNP	c.(2056-2058)ACA>ACG	3	3			skin(3)|ovary(2)	5	Broad	cordon-bleu homolog			51096735		0.498	ENSG00000106078	3590	g.chr7:51096735T>C				NSCLC(189;2119 2138 12223 30818 34679)			NSCLC(189;2119 2138 12223 30818 34679)			187.178223	KEEP	39	29	-1	106	91	39	29	-1	199.032547	106	91	0.26749	1	0	0	0	0	0	0	1	0	--	--		0	C			COBL_uc003tps.2_Silent_p.T743T|COBL_uc011kcl.1_Silent_p.T686T|COBL_uc003tpp.3_Silent_p.T472T|COBL_uc003tpq.3_Silent_p.T627T|COBL_uc003tpo.3_Silent_p.T228T	89	GBM-06-2567-TP	p.T686T	T	GGTGCCATGATGTTGGTGCCA	NM_015198	NP_056013	51096735	O75128	COBL_HUMAN	0			10	2243	-	C	C	Glioma(55;0.08)		Silent	686						
COBL	23242		GRCh37	7	51287539	51287539	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000265136.7:c.144G>T	p.Gln48His	p.Q48H	ENST00000265136	NM_015198.3	48	caG/caT	0																																																																																																																																																																																																																																												
COBLL1	22837	broad.mit.edu	GRCh37	2	165578701	165578701	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01	TCGA-06-0122-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342193.4:c.880C>T	p.Arg294Trp	p.R294W	ENST00000342193	NM_014900.4	294	Cgg/Tgg	0		A:0.0008	1	A:0.0014		A	R/W	uc010zcw.1	protein_coding					994/3615									ovary(2)|pancreas(1)	3	c.(1078-1080)CGG>TGG			hmmpanther:PTHR21557,hmmpanther:PTHR21557:SF2	COBL-like 1		A:0		ENSP00000376478	A:0	15-Jul	2.47E-05	9.61E-05	8.65E-05				0.0011		rs199807543,COSM2149228	15-Jul	.		ENST00000392717	Transcript		A:0.0004				ENSG00000082438	g.chr2:165578701G>A	23571			MODERATE		2.52	medium	getma.org/?cm=msa&ty=f&p=COBL1_HUMAN&rb=53&re=406&var=R332W	NA	getma.org/?cm=var&var=hg19,2,165578701,G,A&fts=all	R332W	--	--	1																																		COBLL1_uc002ucp.2_Missense_Mutation_p.R294W|COBLL1_uc002ucq.2_Missense_Mutation_p.R294W|COBLL1_uc010zcx.1_Missense_Mutation_p.R340W|COBLL1_uc002ucs.1_RNA|COBLL1_uc002uco.2_Missense_Mutation_p.R63W	0,1			probably_damaging(1)	p.R360W	NM_014900	NP_055715	A:0	deleterious(0)	0,1	COBL1_HUMAN	COBLL1	HGNC	Q53SF7	COBL1_HUMAN			C9JWZ0_HUMAN,C9JAU3_HUMAN,B3KMG7_HUMAN		9	1202	-			UPI0000E82591	332			KKRRAP 1.		SNV	COBLL1,missense_variant,p.Arg294Trp,ENST00000375458,NM_001278461.1;COBLL1,missense_variant,p.Arg294Trp,ENST00000342193,NM_014900.4;COBLL1,missense_variant,p.Arg332Trp,ENST00000392717,;COBLL1,missense_variant,p.Arg332Trp,ENST00000409184,NM_001278460.1;COBLL1,missense_variant,p.Arg360Trp,ENST00000194871,NM_001278458.1;COBLL1,downstream_gene_variant,,ENST00000452626,;COBLL1,downstream_gene_variant,,ENST00000456693,;COBLL1,intron_variant,,ENST00000491126,;COBLL1,intron_variant,,ENST00000434366,;COBLL1,missense_variant,p.Arg307Trp,ENST00000456171,;COBLL1,non_coding_transcript_exon_variant,,ENST00000493868,;COBLL1,non_coding_transcript_exon_variant,,ENST00000474975,;	uc010zcw.1	c.1078C>T	999/4749	1	1			c.1078C>T						2	SNP	c.(1078-1080)CGG>TGG	59	59			ovary(2)|pancreas(1)	3	Broad	COBL-like 1			165578701		0.522	ENSG00000082438	3591	g.chr2:165578701G>A										112.47581	KEEP	25	18	-1	44	27	25	18	-1	113.273716	44	27	0.40404	1	0	0	0	0	1	0	0	0	--	--		0	A			COBLL1_uc002ucp.2_Missense_Mutation_p.R294W|COBLL1_uc002ucq.2_Missense_Mutation_p.R294W|COBLL1_uc010zcx.1_Missense_Mutation_p.R340W|COBLL1_uc002ucs.1_RNA|COBLL1_uc002uco.2_Missense_Mutation_p.R63W	10	GBM-06-0122-TP	p.R360W	G	AGTGGAGCCCGCCTCTTCTTG	NM_014900	NP_055715	165578701	Q53SF7	COBL1_HUMAN	0			9	1202	-	A	A			Missense_Mutation	332			KKRRAP 1.			
COBLL1	0	broad.mit.edu	GRCh37	2	165551266	165551266	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-14-1823-01	TCGA-14-1823-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392717.2:c.2864A>G	p.Tyr955Cys	p.Y955C	ENST00000392717		955	tAt/tGt	0			1			C	Y/C	uc010zcw.1	protein_coding					2864/3615									ovary(2)|pancreas(1)	3	c.(2950-2952)TAT>TGT			hmmpanther:PTHR21557,hmmpanther:PTHR21557:SF2	COBL-like 1				ENSP00000376478		13/15	8.24E-06		8.75E-05						rs779338264,COSM3406979	13/15	.		ENST00000392717	Transcript						ENSG00000082438	g.chr2:165551266T>C	23571			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=COBL1_HUMAN&rb=807&re=1006&var=Y955C	NA	getma.org/?cm=var&var=hg19,2,165551266,T,C&fts=all	Y955C	--	--	1																																		COBLL1_uc002ucp.2_Missense_Mutation_p.Y917C|COBLL1_uc002ucq.2_Missense_Mutation_p.Y879C|COBLL1_uc010zcx.1_Missense_Mutation_p.Y925C|COBLL1_uc002ucn.2_Missense_Mutation_p.Y345C|COBLL1_uc002uco.2_Missense_Mutation_p.Y648C	0,1			probably_damaging(0.999)	p.Y984C	NM_014900	NP_055715		deleterious(0)	0,1	COBL1_HUMAN	COBLL1	HGNC	Q53SF7	COBL1_HUMAN			C9JWZ0_HUMAN,C9JAU3_HUMAN,B3KMG7_HUMAN		15	3075	-			UPI0000E82591	955					SNV	COBLL1,missense_variant,p.Tyr879Cys,ENST00000375458,NM_001278461.1;COBLL1,missense_variant,p.Tyr917Cys,ENST00000342193,NM_014900.4;COBLL1,missense_variant,p.Tyr955Cys,ENST00000392717,;COBLL1,missense_variant,p.Tyr917Cys,ENST00000409184,NM_001278460.1;COBLL1,missense_variant,p.Tyr984Cys,ENST00000194871,NM_001278458.1;COBLL1,upstream_gene_variant,,ENST00000493713,;COBLL1,upstream_gene_variant,,ENST00000495084,;COBLL1,non_coding_transcript_exon_variant,,ENST00000493868,;COBLL1,non_coding_transcript_exon_variant,,ENST00000489955,;	uc010zcw.1	c.2951A>G	2869/4749	4	4			c.2951A>G						2	SNP	c.(2950-2952)TAT>TGT	43	43			ovary(2)|pancreas(1)	3	Broad	COBL-like 1			165551266		0.448	ENSG00000082438	3591	g.chr2:165551266T>C										48.456431	KEEP	16	4	-1	31	19	16	4	-1	51.298904	31	19	0.274194	1	0	0	0	0	1	0	0	0	--	--		0	C			COBLL1_uc002ucp.2_Missense_Mutation_p.Y917C|COBLL1_uc002ucq.2_Missense_Mutation_p.Y879C|COBLL1_uc010zcx.1_Missense_Mutation_p.Y925C|COBLL1_uc002ucn.2_Missense_Mutation_p.Y345C|COBLL1_uc002uco.2_Missense_Mutation_p.Y648C	147	GBM-14-1823-TP	p.Y984C	T	AGATGTCACATAGTGACCCGA	NM_014900	NP_055715	165551266	Q53SF7	COBL1_HUMAN	0			15	3075	-	C	C			Missense_Mutation	955						
COBLL1	0	broad.mit.edu	GRCh37	2	165551199	165551199	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-32-2495-01	TCGA-32-2495-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392717.2:c.2931T>A	p.Asn977Lys	p.N977K	ENST00000392717		977	aaT/aaA	0			1			T	N/K	uc010zcw.1	protein_coding					2931/3615									ovary(2)|pancreas(1)	3	c.(3016-3018)AAT>AAA			hmmpanther:PTHR21557,hmmpanther:PTHR21557:SF2	COBL-like 1				ENSP00000376478		13/15									COSM3406978	13/15	.		ENST00000392717	Transcript						ENSG00000082438	g.chr2:165551199A>T	23571			MODERATE		-0.695	neutral	getma.org/?cm=msa&ty=f&p=COBL1_HUMAN&rb=807&re=1006&var=N977K	NA	getma.org/?cm=var&var=hg19,2,165551199,A,T&fts=all	N977K	--	--	1																																		COBLL1_uc002ucp.2_Missense_Mutation_p.N939K|COBLL1_uc002ucq.2_Missense_Mutation_p.N901K|COBLL1_uc010zcx.1_Missense_Mutation_p.N947K|COBLL1_uc002ucn.2_Missense_Mutation_p.N367K|COBLL1_uc002uco.2_Missense_Mutation_p.N670K	1			benign(0.001)	p.N1006K	NM_014900	NP_055715		tolerated(0.37)	1	COBL1_HUMAN	COBLL1	HGNC	Q53SF7	COBL1_HUMAN			C9JWZ0_HUMAN,C9JAU3_HUMAN,B3KMG7_HUMAN		15	3142	-			UPI0000E82591	977					SNV	COBLL1,missense_variant,p.Asn901Lys,ENST00000375458,NM_001278461.1;COBLL1,missense_variant,p.Asn939Lys,ENST00000342193,NM_014900.4;COBLL1,missense_variant,p.Asn977Lys,ENST00000392717,;COBLL1,missense_variant,p.Asn939Lys,ENST00000409184,NM_001278460.1;COBLL1,missense_variant,p.Asn1006Lys,ENST00000194871,NM_001278458.1;COBLL1,non_coding_transcript_exon_variant,,ENST00000493713,;COBLL1,upstream_gene_variant,,ENST00000495084,;COBLL1,non_coding_transcript_exon_variant,,ENST00000493868,;COBLL1,non_coding_transcript_exon_variant,,ENST00000489955,;	uc010zcw.1	c.3018T>A	2936/4749	1	1			c.3018T>A						2	SNP	c.(3016-3018)AAT>AAA	16	16			ovary(2)|pancreas(1)	3	Broad	COBL-like 1			165551199		0.468	ENSG00000082438	3591	g.chr2:165551199A>T										9.269563	KEEP	7	4	-1	30	45	7	4	-1	20.514559	30	45	0.108108	1	0	0	0	0	1	0	0	0	--	--		0	T			COBLL1_uc002ucp.2_Missense_Mutation_p.N939K|COBLL1_uc002ucq.2_Missense_Mutation_p.N901K|COBLL1_uc010zcx.1_Missense_Mutation_p.N947K|COBLL1_uc002ucn.2_Missense_Mutation_p.N367K|COBLL1_uc002uco.2_Missense_Mutation_p.N670K	237	GBM-32-2495-TP	p.N1006K	A	CTGCCTCTTTATTTGTCAGTT	NM_014900	NP_055715	165551199	Q53SF7	COBL1_HUMAN	0			15	3142	-	T	T			Missense_Mutation	977						
COG2	0	broad.mit.edu	GRCh37	1	230798959	230798959	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	rs141422644	byFrequency	TCGA-28-5211-01	TCGA-28-5211-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366669.4:c.380delA	p.Lys127ArgfsTer5	p.K127Rfs*5	ENST00000366669	NM_001145036.1	125	Aaa/aa	0			1			-	K/X	uc001htw.2	protein_coding	YES	CCDS1584.1			373/2217										0	c.(373-375)AAAfs			hmmpanther:PTHR12961,Pfam_domain:PF06148	component of oligomeric golgi complex 2 isoform				ENSP00000355629		18-Apr										18-Apr	.		ENST00000366669	Transcript			Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	ENSG00000135775	g.chr1:230798959delA	6546	7		HIGH								--	--	1																																		COG2_uc001htx.2_Frame_Shift_Del_p.K125fs|COG2_uc010pwc.1_5'UTR		1			p.K125fs	NM_007357	NP_031383				COG2_HUMAN	COG2	HGNC	Q14746	COG2_HUMAN			F5H1E5_HUMAN,B7Z2Y2_HUMAN,B1ALW7_HUMAN		4	524	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	UPI0000127E38	125					deletion	COG2,frameshift_variant,p.Lys68ArgfsTer5,ENST00000534989,;COG2,frameshift_variant,p.Lys127ArgfsTer5,ENST00000366669,NM_001145036.1,NM_007357.2;COG2,frameshift_variant,p.Lys127ArgfsTer5,ENST00000366668,;COG2,frameshift_variant,p.Lys11ArgfsTer5,ENST00000535166,;COG2,3_prime_UTR_variant,,ENST00000468893,;COG2,non_coding_transcript_exon_variant,,ENST00000494371,;COG2,downstream_gene_variant,,ENST00000473671,;	uc001htw.2	c.373delA	488/2921	5	5			c.373delA						1	DEL	c.(373-375)AAAfs	1	1				0	Broad	component of oligomeric golgi complex 2 isoform			230798959		0.348	ENSG00000135775	3595	g.chr1:230798959delA	Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity																				0.04	1	1	0	1	0	0	0	0	0	--	--		0	-			COG2_uc001htx.2_Frame_Shift_Del_p.K125fs|COG2_uc010pwc.1_5'UTR	219	GBM-28-5211-TP	p.K125fs	A	GGACATTAGGAAAAAAAAGGT	NM_007357	NP_031383	230798959	Q14746	COG2_HUMAN	0			4	524	+	-	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	Frame_Shift_Del	125						
COG2	0	broad.mit.edu	GRCh37	1	230820980	230820980	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-2634-01	TCGA-32-2634-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366669.4:c.1378G>C	p.Glu460Gln	p.E460Q	ENST00000366669	NM_001145036.1	460	Gag/Cag	0			1			C	E/Q	uc001htw.2	protein_coding	YES	CCDS1584.1			1378/2217										0	c.(1378-1380)GAG>CAG			hmmpanther:PTHR12961	component of oligomeric golgi complex 2 isoform				ENSP00000355629		18-Dec									COSM3400454	18-Dec	.		ENST00000366669	Transcript			Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	ENSG00000135775	g.chr1:230820980G>C	6546			MODERATE		1.005	low	getma.org/?cm=msa&ty=f&p=COG2_HUMAN&rb=348&re=547&var=E460Q	NA	getma.org/?cm=var&var=hg19,1,230820980,G,C&fts=all	E460Q	--	--	1																																		COG2_uc001htx.2_Missense_Mutation_p.E460Q|COG2_uc010pwc.1_Missense_Mutation_p.E333Q	1	1		benign(0.045)	p.E460Q	NM_007357	NP_031383		tolerated(0.15)	1	COG2_HUMAN	COG2	HGNC	Q14746	COG2_HUMAN			F5H1E5_HUMAN,B7Z2Y2_HUMAN,B1ALW7_HUMAN		12	1529	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	UPI0000127E38	460					SNV	COG2,missense_variant,p.Glu401Gln,ENST00000534989,;COG2,missense_variant,p.Glu460Gln,ENST00000366669,NM_001145036.1,NM_007357.2;COG2,missense_variant,p.Glu460Gln,ENST00000366668,;COG2,missense_variant,p.Glu344Gln,ENST00000535166,;COG2,missense_variant,p.Glu149Gln,ENST00000546013,;COG2,splice_region_variant,,ENST00000482012,;COG2,upstream_gene_variant,,ENST00000490900,;COG2,upstream_gene_variant,,ENST00000478710,;COG2,splice_region_variant,,ENST00000468893,;COG2,downstream_gene_variant,,ENST00000494371,;	uc001htw.2	c.1378G>C	1493/2921	3	3			c.1378G>C						1	SNP	c.(1378-1380)GAG>CAG	6	6				0	Broad	component of oligomeric golgi complex 2 isoform			230820980		0.423	ENSG00000135775	3595	g.chr1:230820980G>C	Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity							-27.102157	KEEP	2	1	-1	85	55	2	1	-1	6.995559	85	55	0.022388	1	0	0	0	0	1	0	0	0	--	--		0	C			COG2_uc001htx.2_Missense_Mutation_p.E460Q|COG2_uc010pwc.1_Missense_Mutation_p.E333Q	241	GBM-32-2634-TP	p.E460Q	G	GTTTGTCAATGAGGTAAGGGC	NM_007357	NP_031383	230820980	Q14746	COG2_HUMAN	0			12	1529	+	C	C	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	Missense_Mutation	460						
COG2	22796		GRCh37	1	230807312	230807312	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000366669.4:c.825G>C	p.Met275Ile	p.M275I	ENST00000366669	NM_001145036.1	275	atG/atC	0																																																																																																																																																																																																																																												
COG4	25839	broad.mit.edu	GRCh37	16	70551628	70551628	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-06-0875-01	TCGA-06-0875-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323786.5:c.270G>C	p.Leu90=	p.L90=	ENST00000323786	NM_015386.2	90	ctG/ctC	0			1			G	L	uc002ezc.2	protein_coding	YES	CCDS10892.2			270/2370										0	c.(268-270)CTG>CTC			hmmpanther:PTHR24016:SF0,hmmpanther:PTHR24016	component of oligomeric golgi complex 4				ENSP00000315775		19-Mar									COSM2152002	19-Mar	.		ENST00000323786	Transcript	1		Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	ENSG00000103051	g.chr16:70551628C>G	18620			LOW								--	--	1																																		COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Silent_p.L90L|COG4_uc002eze.2_5'UTR	1	1			p.L90L	NM_015386	NP_056201			1		COG4	HGNC	Q9H9E3	COG4_HUMAN			J3KRB5_HUMAN,J3KNI1_HUMAN,B4DDL2_HUMAN		3	281	-		Ovarian(137;0.0694)	UPI000059D3B0	86			Interacts with STX5.		SNV	COG4,synonymous_variant,p.=,ENST00000323786,NM_015386.2,NM_001195139.1;COG4,synonymous_variant,p.=,ENST00000393612,;COG4,synonymous_variant,p.=,ENST00000534772,;COG4,synonymous_variant,p.=,ENST00000564653,;COG4,stop_lost,p.Ter73SerextTer11,ENST00000524584,;COG4,synonymous_variant,p.=,ENST00000564415,;COG4,synonymous_variant,p.=,ENST00000482252,;COG4,non_coding_transcript_exon_variant,,ENST00000530314,;COG4,non_coding_transcript_exon_variant,,ENST00000562200,;COG4,intron_variant,,ENST00000530160,;	uc002ezc.2	c.270G>C	292/2833	3	3			c.270G>C						16	SNP	c.(268-270)CTG>CTC	13	13				0	Broad	component of oligomeric golgi complex 4			70551628		0.453	ENSG00000103051	3597	g.chr16:70551628C>G	Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding							59.511692	KEEP	14	10	-1	41	48	14	10	-1	68.505327	41	48	0.198113	1	0	0	0	0	0	0	1	0	--	--		0	G			COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Silent_p.L90L|COG4_uc002eze.2_5'UTR	71	GBM-06-0875-TP	p.L90L	C	CTCCCTCAATCAGCTGCAGAT	NM_015386	NP_056201	70551628	Q9H9E3	COG4_HUMAN	0			3	281	-	G	G		Ovarian(137;0.0694)	Silent	86			Interacts with STX5.			
COG6	57511	broad.mit.edu	GRCh37	13	40293942	40293942	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01	TCGA-06-0155-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000455146.3:c.1562G>A	p.Arg521His	p.R521H	ENST00000455146	NM_020751.2	521	cGt/cAt	0			1			A	R/H	uc001uxh.2	protein_coding	YES	CCDS9370.1			1562/1974									kidney(1)|skin(1)	2	c.(1561-1563)CGT>CAT			Pfam_domain:PF06419,hmmpanther:PTHR21506,SMART_domains:SM01087	component of oligomeric golgi complex 6 isoform				ENSP00000397441		15/19	4.94E-05		0.000264	0.000117		1.51E-05		6.07E-05	rs780630711,COSM2150001,COSM3399366	15/19	.		ENST00000455146	Transcript	1		protein transport	Golgi membrane|Golgi transport complex		ENSG00000133103	g.chr13:40293942G>A	18621			MODERATE		1.505	low	getma.org/?cm=msa&ty=f&p=COG6_HUMAN&rb=55&re=656&var=R521H	NA	getma.org/?cm=var&var=hg19,13,40293942,G,A&fts=all	R521H	--	--	1																																		COG6_uc001uxi.2_Missense_Mutation_p.R469H|COG6_uc010acb.2_Missense_Mutation_p.R521H	0,1,1	1		benign(0.363)	p.R521H	NM_020751	NP_065802		deleterious(0.03)	0,1,1	COG6_HUMAN	COG6	HGNC	Q9Y2V7	COG6_HUMAN		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)	B4DG73_HUMAN		15	1662	+		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)	UPI000019271E	521					SNV	COG6,missense_variant,p.Arg521His,ENST00000416691,NM_001145079.1;COG6,missense_variant,p.Arg521His,ENST00000455146,NM_020751.2;COG6,3_prime_UTR_variant,,ENST00000356576,;	uc001uxh.2	c.1562G>A	1612/3563	1	1			c.1562G>A						13	SNP	c.(1561-1563)CGT>CAT	64	64			kidney(1)|skin(1)	2	Broad	component of oligomeric golgi complex 6 isoform			40293942		0.343	ENSG00000133103	3599	g.chr13:40293942G>A	protein transport	Golgi membrane|Golgi transport complex								144.774787	KEEP	30	27	-1	63	64	30	27	-1	149.808884	63	64	0.317647	1	0	0	0	0	1	0	0	0	--	--		0	A			COG6_uc001uxi.2_Missense_Mutation_p.R469H|COG6_uc010acb.2_Missense_Mutation_p.R521H	27	GBM-06-0155-TP	p.R521H	G	ACTGACAGACGTCTGGAAATG	NM_020751	NP_065802	40293942	Q9Y2V7	COG6_HUMAN	0		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)	15	1662	+	A	A		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)	Missense_Mutation	521						
COG6	57511		GRCh37	13	40268775	40268775	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000455146.3:c.1079G>T	p.Arg360Leu	p.R360L	ENST00000455146	NM_020751.2	360	cGa/cTa	0																																																																																																																																																																																																																																												
COIL	0	broad.mit.edu	GRCh37	17	55028016	55028016	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-26-5136-01	TCGA-26-5136-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000240316.4:c.587delA	p.Lys196ArgfsTer13	p.K196Rfs*13	ENST00000240316	NM_004645.2	196	aAg/ag	0			1			-	K/X	uc002iuu.2	protein_coding	YES	CCDS11592.1			587/1731									ovary(1)	1	c.(586-588)AAGfs			Low_complexity_(Seg):seg,hmmpanther:PTHR15197:SF0,hmmpanther:PTHR15197	coilin				ENSP00000240316		7-Feb	3.29E-05	9.61E-05						0.000122	rs748995811,COSM1384596	7-Feb	.		ENST00000240316	Transcript				Cajal body|nucleolus	protein C-terminus binding	ENSG00000121058	g.chr17:55028016delT	2184			HIGH								--	--	1																																			0,1	1			p.K196fs	NM_004645	NP_004636			0,1	COIL_HUMAN	COIL	HGNC	P38432	COIL_HUMAN					2	618	-	Breast(9;6.15e-08)		UPI0000131068	196			Lys-rich (basic).		deletion	COIL,frameshift_variant,p.Lys196ArgfsTer13,ENST00000240316,NM_004645.2;COIL,downstream_gene_variant,,ENST00000573008,;RP5-1107A17.2,upstream_gene_variant,,ENST00000570407,;	uc002iuu.2	c.587delA	622/2650	5	5			c.587delA						17	DEL	c.(586-588)AAGfs	34	34			ovary(1)	1	Broad	coilin			55028016		0.393	ENSG00000121058	3602	g.chr17:55028016delT		Cajal body|nucleolus	protein C-terminus binding																				0.02	1	1	0	1	0	0	0	0	0	--	--		0	-				185	GBM-26-5136-TP	p.K196fs	T	ATTCTTAGCCTTTTTTTTATA	NM_004645	NP_004636	55028016	P38432	COIL_HUMAN	0			2	618	-	-	-	Breast(9;6.15e-08)		Frame_Shift_Del	196			Lys-rich (basic).			
COIL	0	broad.mit.edu	GRCh37	17	55027963	55027963	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-32-2638-01	TCGA-32-2638-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000240316.4:c.640C>A	p.Gln214Lys	p.Q214K	ENST00000240316	NM_004645.2	214	Cag/Aag	0			1			T	Q/K	uc002iuu.2	protein_coding	YES	CCDS11592.1			640/1731									ovary(1)	1	c.(640-642)CAG>AAG			hmmpanther:PTHR15197:SF0,hmmpanther:PTHR15197	coilin				ENSP00000240316		7-Feb									COSM3403039	7-Feb	.		ENST00000240316	Transcript				Cajal body|nucleolus	protein C-terminus binding	ENSG00000121058	g.chr17:55027963G>T	2184			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=COIL_HUMAN&rb=101&re=328&var=Q214K	NA	getma.org/?cm=var&var=hg19,17,55027963,G,T&fts=all	Q214K	--	--	1																																			1	1		benign(0.311)	p.Q214K	NM_004645	NP_004636		tolerated(0.47)	1	COIL_HUMAN	COIL	HGNC	P38432	COIL_HUMAN					2	671	-	Breast(9;6.15e-08)		UPI0000131068	214					SNV	COIL,missense_variant,p.Gln214Lys,ENST00000240316,NM_004645.2;COIL,downstream_gene_variant,,ENST00000573008,;RP5-1107A17.2,upstream_gene_variant,,ENST00000570407,;	uc002iuu.2	c.640C>A	675/2650	2	2			c.640C>A						17	SNP	c.(640-642)CAG>AAG	25	25			ovary(1)	1	Broad	coilin			55027963		0.403	ENSG00000121058	3602	g.chr17:55027963G>T		Cajal body|nucleolus	protein C-terminus binding							218.466429	KEEP	54	27	0.666666667	68	48	54	27	0.666666667	219.70072	68	48	0.412088	1	0	0	0	0	1	0	0	0	--	--		0	T				242	GBM-32-2638-TP	p.Q214K	G	CTACATCTCTGATTGGCCCAG	NM_004645	NP_004636	55027963	P38432	COIL_HUMAN	0			2	671	-	T	T	Breast(9;6.15e-08)		Missense_Mutation	214						
COL11A1	1301	broad.mit.edu	GRCh37	1	103345386	103345386	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0879-01	TCGA-06-0879-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370096.3:c.5127T>C	p.Asn1709=	p.N1709=	ENST00000370096	NM_001854.3	1709	aaT/aaC	0			1			G	N	uc001dul.2	protein_coding	YES	CCDS778.1			5127/5421									ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12	c.(5125-5127)AAT>AAC			Pfam_domain:PF01410,PROSITE_profiles:PS51461,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF42,SMART_domains:SM00038	alpha 1 type XI collagen isoform A				ENSP00000359114		66/67									COSM3399494,COSM3399495	66/67	.		ENST00000370096	Transcript	1		collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	ENSG00000060718	g.chr1:103345386A>G	2186			LOW								--	--	1																																		COL11A1_uc001duk.2_Silent_p.N905N|COL11A1_uc001dum.2_Silent_p.N1721N|COL11A1_uc001dun.2_Silent_p.N1670N|COL11A1_uc009weh.2_Silent_p.N1593N	1,1	1			p.N1709N	NM_001854	NP_001845			1,1	COBA1_HUMAN	COL11A1	HGNC	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	Q4FAC4_HUMAN,B4DQZ0_HUMAN		66	5445	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	UPI00002053EF	1709			Fibrillar collagen NC1.		SNV	COL11A1,synonymous_variant,p.=,ENST00000358392,NM_080629.2;COL11A1,synonymous_variant,p.=,ENST00000370096,NM_001854.3;COL11A1,synonymous_variant,p.=,ENST00000353414,NM_001190709.1;COL11A1,synonymous_variant,p.=,ENST00000512756,NM_080630.3;COL11A1,non_coding_transcript_exon_variant,,ENST00000470170,;	uc001dul.2	c.5127T>C	5440/7286	3	3			c.5127T>C						1	SNP	c.(5125-5127)AAT>AAC	60	60			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12	Broad	alpha 1 type XI collagen isoform A			103345386		0.423	ENSG00000060718	3604	g.chr1:103345386A>G	collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging							58.902098	KEEP	15	14	-1	59	62	15	14	-1	71.02055	59	62	0.18797	1	0	0	0	0	0	0	1	0	--	--		0	G			COL11A1_uc001duk.2_Silent_p.N905N|COL11A1_uc001dum.2_Silent_p.N1721N|COL11A1_uc001dun.2_Silent_p.N1670N|COL11A1_uc009weh.2_Silent_p.N1593N	75	GBM-06-0879-TP	p.N1709N	A	GGTAGGTGAAATTTTGCCGAG	NM_001854	NP_001845	103345386	P12107	COBA1_HUMAN	0		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	66	5445	-	G	G		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	Silent	1709			Fibrillar collagen NC1.			
COL11A1	0	broad.mit.edu	GRCh37	1	103487313	103487313	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-12-3650-01	TCGA-12-3650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370096.3:c.1258G>T	p.Gly420Cys	p.G420C	ENST00000370096	NM_001854.3	420	Ggt/Tgt	0			1			A	G/C	uc001dul.2	protein_coding	YES	CCDS778.1			1258/5421									ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12	c.(1258-1260)GGT>TGT			hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF42	alpha 1 type XI collagen isoform A				ENSP00000359114		Sep-67									COSM3399496,COSM3399497	Sep-67	.		ENST00000370096	Transcript	1		collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	ENSG00000060718	g.chr1:103487313C>A	2186			MODERATE		2.63	medium	getma.org/?cm=msa&ty=f&p=COBA1_HUMAN&rb=229&re=428&var=G420C	NA	getma.org/?cm=var&var=hg19,1,103487313,C,A&fts=all	G420C	--	--	1																																		COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.G432C|COL11A1_uc001dun.2_Missense_Mutation_p.G381C|COL11A1_uc009weh.2_Missense_Mutation_p.G304C	1,1	1		probably_damaging(1)	p.G420C	NM_001854	NP_001845			1,1	COBA1_HUMAN	COL11A1	HGNC	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	Q4FAC4_HUMAN,B4DQZ0_HUMAN		9	1576	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	UPI00002053EF	420			Triple-helical region (interrupted).		SNV	COL11A1,missense_variant,p.Gly432Cys,ENST00000358392,NM_080629.2;COL11A1,missense_variant,p.Gly420Cys,ENST00000370096,NM_001854.3;COL11A1,missense_variant,p.Gly381Cys,ENST00000353414,NM_001190709.1;COL11A1,missense_variant,p.Gly304Cys,ENST00000512756,NM_080630.3;COL11A1,missense_variant,p.Gly432Cys,ENST00000427239,;	uc001dul.2	c.1258G>T	1571/7286	1	1			c.1258G>T						1	SNP	c.(1258-1260)GGT>TGT	51	51			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12	Broad	alpha 1 type XI collagen isoform A			103487313		0.303	ENSG00000060718	3604	g.chr1:103487313C>A	collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging							99.333819	KEEP	27	16	0.372093023	52	46	27	16	0.372093023	104.229574	52	46	0.290323	1	0	0	0	0	1	0	0	0	--	--		0	A			COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.G432C|COL11A1_uc001dun.2_Missense_Mutation_p.G381C|COL11A1_uc009weh.2_Missense_Mutation_p.G304C	126	GBM-12-3650-TP	p.G420C	C	CCATATGCACCATGGCCATTT	NM_001854	NP_001845	103487313	P12107	COBA1_HUMAN	0		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	9	1576	-	A	A		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	Missense_Mutation	420			Triple-helical region (interrupted).			
COL11A2	1302	broad.mit.edu	GRCh37	6	33152017	33152017	+	intron_variant	Intron	SNP	C	C	A			TCGA-06-0219-01	TCGA-06-0219-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374708.4:c.861+752G>T		p.*287*	ENST00000374708	NM_080681.2			0			1			A		uc003ocx.1	protein_coding	YES	CCDS43452.1			-/4953									ovary(3)|skin(2)	5	c.(1024-1026)GGG>TGG				collagen, type XI, alpha 2 isoform 1				ENSP00000363840											COSM3411004		.		ENST00000374708	Transcript	1		cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	ENSG00000204248	g.chr6:33152017C>A	2187			MODIFIER	Jun-63	1.15	low	getma.org/?cm=msa&ty=f&p=COBA2_HUMAN&rb=212&re=395&var=G342W	NA	getma.org/?cm=var&var=hg19,6,33152017,C,A&fts=all	G342W	--	--	1																																		COL11A2_uc003ocy.1_Intron|COL11A2_uc003ocz.1_Intron	1	1			p.G342W	NM_080680	NP_542411			1		COL11A2	HGNC	P13942	COBA2_HUMAN			Q6LCP7_HUMAN,Q4VXY6_HUMAN		8	1252	-			UPI000013E9A5	342			Nonhelical region.		SNV	COL11A2,missense_variant,p.Gly342Trp,ENST00000341947,NM_080680.2;COL11A2,missense_variant,p.Gly321Trp,ENST00000357486,;COL11A2,missense_variant,p.Gly316Trp,ENST00000374714,;COL11A2,missense_variant,p.Gly295Trp,ENST00000374713,;COL11A2,missense_variant,p.Gly342Trp,ENST00000457788,;COL11A2,intron_variant,,ENST00000395197,;COL11A2,intron_variant,,ENST00000374708,NM_080681.2;COL11A2,intron_variant,,ENST00000374712,;COL11A2,intron_variant,,ENST00000361917,NM_080679.2;COL11A2,downstream_gene_variant,,ENST00000395194,NM_001163771.1;	uc003ocx.1	c.1024G>T	-/6209	2	2			c.1024G>T						6	SNP	c.(1024-1026)GGG>TGG	24	24			ovary(3)|skin(2)	5	Broad	collagen, type XI, alpha 2 isoform 1			33152017		0.612	ENSG00000204248	3605	g.chr6:33152017C>A	cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	Melanoma(1;90 116 3946 5341 17093)			Melanoma(1;90 116 3946 5341 17093)			-19.414755	KEEP	7	4	0.363636364	89	99	7	4	0.363636364	18.103	89	99	0.055556	1	0	0	0	0	1	0	0	0	--	--		0	A			COL11A2_uc003ocy.1_Intron|COL11A2_uc003ocz.1_Intron	52	GBM-06-0219-TP	p.G342W	C	TCGTAGGGCCCTTCAGGGGGG	NM_080680	NP_542411	33152017	P13942	COBA2_HUMAN	0			8	1252	-	A	A			Missense_Mutation	342			Nonhelical region.			
COL11A2	1302	broad.mit.edu	GRCh37	6	33153497	33153497	+	intron_variant	Intron	SNP	C	C	T			TCGA-06-2567-01	TCGA-06-2567-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374708.4:c.799-666G>A		p.*267*	ENST00000374708	NM_080681.2			0			1			T		uc003ocx.1	protein_coding	YES	CCDS43452.1			-/4953									ovary(3)|skin(2)	5	c.(856-858)GGG>GAG				collagen, type XI, alpha 2 isoform 1				ENSP00000363840			8.50E-06					1.58E-05			rs777716059,COSM3411005		.		ENST00000374708	Transcript	1		cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	ENSG00000204248	g.chr6:33153497C>T	2187			MODIFIER	May-63	0.69	neutral	getma.org/?cm=msa&ty=f&p=COBA2_HUMAN&rb=212&re=395&var=G286E	NA	getma.org/?cm=var&var=hg19,6,33153497,C,T&fts=all	G286E	--	--	1																																		COL11A2_uc003ocy.1_Intron|COL11A2_uc003ocz.1_Intron	0,1	1			p.G286E	NM_080680	NP_542411			0,1		COL11A2	HGNC	P13942	COBA2_HUMAN			Q6LCP7_HUMAN,Q4VXY6_HUMAN		6	1085	-			UPI000013E9A5	286			Nonhelical region.		SNV	COL11A2,missense_variant,p.Gly286Glu,ENST00000341947,NM_080680.2;COL11A2,missense_variant,p.Gly286Glu,ENST00000357486,;COL11A2,missense_variant,p.Gly286Glu,ENST00000395197,;COL11A2,missense_variant,p.Gly286Glu,ENST00000374712,;COL11A2,missense_variant,p.Gly286Glu,ENST00000457788,;COL11A2,intron_variant,,ENST00000374714,;COL11A2,intron_variant,,ENST00000374713,;COL11A2,intron_variant,,ENST00000374708,NM_080681.2;COL11A2,intron_variant,,ENST00000361917,NM_080679.2;COL11A2,downstream_gene_variant,,ENST00000395194,NM_001163771.1;	uc003ocx.1	c.857G>A	-/6209	2	2			c.857G>A						6	SNP	c.(856-858)GGG>GAG	30	30			ovary(3)|skin(2)	5	Broad	collagen, type XI, alpha 2 isoform 1			33153497		0.493	ENSG00000204248	3605	g.chr6:33153497C>T	cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	Melanoma(1;90 116 3946 5341 17093)			Melanoma(1;90 116 3946 5341 17093)			86.331667	KEEP	17	14	-1	29	22	17	14	-1	86.876661	29	22	0.402985	1	0	0	0	0	1	0	0	0	--	--		0	T			COL11A2_uc003ocy.1_Intron|COL11A2_uc003ocz.1_Intron	89	GBM-06-2567-TP	p.G286E	C	AGGGGTTGTCCCCGTAGTCAT	NM_080680	NP_542411	33153497	P13942	COBA2_HUMAN	0			6	1085	-	T	T			Missense_Mutation	286			Nonhelical region.			
COL11A2	0	broad.mit.edu	GRCh37	6	33133402	33133402	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374708.4:c.4416G>T	p.Arg1472Ser	p.R1472S	ENST00000374708	NM_080681.2	1472	agG/agT	0			1			A	R/S	uc003ocx.1	protein_coding	YES	CCDS43452.1			4416/4953									ovary(3)|skin(2)	5	c.(4672-4674)AGG>AGT			PROSITE_profiles:PS51461,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF509,Pfam_domain:PF01410,SMART_domains:SM00038	collagen, type XI, alpha 2 isoform 1				ENSP00000363840		61/64									COSM3411001	61/64	.		ENST00000374708	Transcript	1		cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	ENSG00000204248	g.chr6:33133402C>A	2187			MODERATE		2.93	medium	getma.org/?cm=msa&ty=f&p=COBA2_HUMAN&rb=1557&re=1621&var=R1558S	NA	getma.org/?cm=var&var=hg19,6,33133402,C,A&fts=all	R1558S	--	--	1																																		COL11A2_uc010jul.1_Missense_Mutation_p.R128S|COL11A2_uc003ocy.1_Missense_Mutation_p.R1472S|COL11A2_uc003ocz.1_Missense_Mutation_p.R1451S	1	1		unknown(0)	p.R1558S	NM_080680	NP_542411			1		COL11A2	HGNC	P13942	COBA2_HUMAN			Q6LCP7_HUMAN,Q4VXY6_HUMAN		63	4902	-			UPI000013E9A5	1558			Fibrillar collagen NC1.		SNV	COL11A2,missense_variant,p.Arg1558Ser,ENST00000341947,NM_080680.2;COL11A2,missense_variant,p.Arg1537Ser,ENST00000357486,;COL11A2,missense_variant,p.Arg1532Ser,ENST00000374714,;COL11A2,missense_variant,p.Arg1511Ser,ENST00000374713,;COL11A2,missense_variant,p.Arg1498Ser,ENST00000395197,;COL11A2,missense_variant,p.Arg1472Ser,ENST00000374708,NM_080681.2;COL11A2,missense_variant,p.Arg1477Ser,ENST00000374712,;COL11A2,missense_variant,p.Arg1451Ser,ENST00000361917,NM_080679.2;COL11A2,non_coding_transcript_exon_variant,,ENST00000477772,;	uc003ocx.1	c.4674G>T	4675/6209	1	1			c.4674G>T						6	SNP	c.(4672-4674)AGG>AGT	52	52			ovary(3)|skin(2)	5	Broad	collagen, type XI, alpha 2 isoform 1			33133402		0.662	ENSG00000204248	3605	g.chr6:33133402C>A	cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	Melanoma(1;90 116 3946 5341 17093)			Melanoma(1;90 116 3946 5341 17093)			133.94658	KEEP	24	34	0.586206897	53	35	24	34	0.586206897	136.173423	53	35	0.362963	1	0	0	0	0	1	0	0	0	--	--		0	A			COL11A2_uc010jul.1_Missense_Mutation_p.R128S|COL11A2_uc003ocy.1_Missense_Mutation_p.R1472S|COL11A2_uc003ocz.1_Missense_Mutation_p.R1451S	159	GBM-19-1390-TP	p.R1558S	C	CTGTTGGCCGCCTCATCTGCT	NM_080680	NP_542411	33133402	P13942	COBA2_HUMAN	0			63	4902	-	A	A			Missense_Mutation	1558			Fibrillar collagen NC1.			
COL11A2	0	broad.mit.edu	GRCh37	6	33141808	33141808	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-6450-01	TCGA-28-6450-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374708.4:c.2251C>T	p.Arg751Trp	p.R751W	ENST00000374708	NM_080681.2	751	Cgg/Tgg	0			1			A	R/W	uc003ocx.1	protein_coding	YES	CCDS43452.1			2251/4953									ovary(3)|skin(2)	5	c.(2509-2511)CGG>TGG			Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF509,Pfam_domain:PF01391	collagen, type XI, alpha 2 isoform 1				ENSP00000363840		31/64	1.65E-05							0.000121	rs761256686,COSM3411002	31/64	.		ENST00000374708	Transcript	1		cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	ENSG00000204248	g.chr6:33141808G>A	2187			MODERATE		2.87	medium	getma.org/?cm=msa&ty=f&p=COBA2_HUMAN&rb=806&re=966&var=R837W	getma.org/pdb.php?prot=COBA2_HUMAN&from=806&to=966&var=R837W	getma.org/?cm=var&var=hg19,6,33141808,G,A&fts=all	R837W	--	--	1																																		COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.R751W|COL11A2_uc003ocz.1_Missense_Mutation_p.R730W	0,1	1		possibly_damaging(0.835)	p.R837W	NM_080680	NP_542411			0,1		COL11A2	HGNC	P13942	COBA2_HUMAN			Q6LCP7_HUMAN,Q4VXY6_HUMAN		33	2737	-			UPI000013E9A5	837			Triple-helical region.		SNV	COL11A2,missense_variant,p.Arg837Trp,ENST00000341947,NM_080680.2;COL11A2,missense_variant,p.Arg816Trp,ENST00000357486,;COL11A2,missense_variant,p.Arg811Trp,ENST00000374714,;COL11A2,missense_variant,p.Arg790Trp,ENST00000374713,;COL11A2,missense_variant,p.Arg777Trp,ENST00000395197,;COL11A2,missense_variant,p.Arg751Trp,ENST00000374708,NM_080681.2;COL11A2,missense_variant,p.Arg756Trp,ENST00000374712,;COL11A2,missense_variant,p.Arg730Trp,ENST00000361917,NM_080679.2;COL11A2,downstream_gene_variant,,ENST00000457788,;COL11A2,intron_variant,,ENST00000477772,;	uc003ocx.1	c.2509C>T	2510/6209	2	2			c.2509C>T						6	SNP	c.(2509-2511)CGG>TGG	29	29			ovary(3)|skin(2)	5	Broad	collagen, type XI, alpha 2 isoform 1			33141808		0.612	ENSG00000204248	3605	g.chr6:33141808G>A	cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	Melanoma(1;90 116 3946 5341 17093)			Melanoma(1;90 116 3946 5341 17093)			56.410952	KEEP	8	12	-1	16	26	8	12	-1	57.345286	16	26	0.358491	1	0	0	0	0	1	0	0	0	--	--		0	A			COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.R751W|COL11A2_uc003ocz.1_Missense_Mutation_p.R730W	227	GBM-28-6450-TP	p.R837W	G	CGTTCTCCCCGAGGCCCTGAC	NM_080680	NP_542411	33141808	P13942	COBA2_HUMAN	0			33	2737	-	A	A			Missense_Mutation	837			Triple-helical region.			
COL11A2	1302		GRCh37	6	33137189	33137189	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000374708.4:c.3511A>G	p.Thr1171Ala	p.T1171A	ENST00000374708	NM_080681.2	1171	Aca/Gca	0																																																																																																																																																																																																																																												
COL12A1	1303	broad.mit.edu	GRCh37	6	75797410	75797410	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0130-01	TCGA-06-0130-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322507.8:c.9064C>T	p.Pro3022Ser	p.P3022S	ENST00000322507	NM_004370.5	3022	Ccc/Tcc	0	A:0.0032	A:0.0015	1	A:0		A	P/S	uc003phs.2	protein_coding	YES	CCDS43482.1			9064/9192									ovary(6)|large_intestine(1)|breast(1)|skin(1)	9	c.(9064-9066)CCC>TCC			Low_complexity_(Seg):seg,hmmpanther:PTHR22992:SF23,hmmpanther:PTHR22992	collagen, type XII, alpha 1 long isoform		A:0.001	A:0	ENSP00000325146	A:0	65/66	0.000166	0.00194	8.64E-05						rs200901687,COSM2149544	65/66	common_variant		ENST00000322507	Transcript	1	A:0.0006	cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	ENSG00000111799	g.chr6:75797410G>A	2188			MODERATE		1.76	low	getma.org/?cm=msa&ty=f&p=COCA1_HUMAN&rb=2995&re=3063&var=P3022S	NA	getma.org/?cm=var&var=hg19,6,75797410,G,A&fts=all	P3022S	--	--	1																																		COL12A1_uc003pht.2_Missense_Mutation_p.P1858S	0,1	1		probably_damaging(0.998)	p.P3022S	NM_004370	NP_004361	A:0		0,1	COCA1_HUMAN	COL12A1	HGNC	Q99715	COCA1_HUMAN					65	9230	-			UPI000045890B	3022			Triple-helical region (COL1) with 2 imperfections.		SNV	COL12A1,missense_variant,p.Pro3022Ser,ENST00000322507,NM_004370.5;COL12A1,missense_variant,p.Pro3018Ser,ENST00000483888,;COL12A1,missense_variant,p.Pro2946Ser,ENST00000416123,;COL12A1,missense_variant,p.Pro1858Ser,ENST00000345356,NM_080645.2;COL12A1,missense_variant,p.Pro660Ser,ENST00000425443,;COL12A1,downstream_gene_variant,,ENST00000511023,;	uc003phs.2	c.9064C>T	9374/11723	2	2			c.9064C>T						6	SNP	c.(9064-9066)CCC>TCC	47	47			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9	Broad	collagen, type XII, alpha 1 long isoform			75797410		0.522	ENSG00000111799	3606	g.chr6:75797410G>A	cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength							69.174755	KEEP	20	10	-1	48	47	20	10	-1	75.134598	48	47	0.252336	1	0	0	0	0	1	0	0	0	--	--		0	A			COL12A1_uc003pht.2_Missense_Mutation_p.P1858S	16	GBM-06-0130-TP	p.P3022S	G	GGGCCAGGGGGACCTCTTGAA	NM_004370	NP_004361	75797410	Q99715	COCA1_HUMAN	0			65	9230	-	A	A			Missense_Mutation	3022			Triple-helical region (COL1) with 2 imperfections.			
COL12A1	0	broad.mit.edu	GRCh37	6	75866132	75866132	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1043-01	TCGA-14-1043-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322507.8:c.3091C>T	p.Arg1031Cys	p.R1031C	ENST00000322507	NM_004370.5	1031	Cgc/Tgc	0		A:0	1	A:0.0014		A	R/C	uc003phs.2	protein_coding	YES	CCDS43482.1			3091/9192									ovary(6)|large_intestine(1)|breast(1)|skin(1)	9	c.(3091-3093)CGC>TGC			PROSITE_profiles:PS50853,hmmpanther:PTHR22992:SF23,hmmpanther:PTHR22992,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	collagen, type XII, alpha 1 long isoform		A:0		ENSP00000325146	A:0	15/66	4.14E-05		0.000174		0.000455				rs575168916,COSM1081704	15/66	common_variant		ENST00000322507	Transcript	1	A:0.0002	cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	ENSG00000111799	g.chr6:75866132G>A	2188			MODERATE		2.47	medium	getma.org/?cm=msa&ty=f&p=COCA1_HUMAN&rb=999&re=1077&var=R1031C	getma.org/pdb.php?prot=COCA1_HUMAN&from=999&to=1077&var=R1031C	getma.org/?cm=var&var=hg19,6,75866132,G,A&fts=all	R1031C	--	--	1																																		COL12A1_uc003pht.2_Intron	0,1	1		probably_damaging(0.939)	p.R1031C	NM_004370	NP_004361	A:0		0,1	COCA1_HUMAN	COL12A1	HGNC	Q99715	COCA1_HUMAN					15	3257	-			UPI000045890B	1031			Fibronectin type-III 7.		SNV	COL12A1,missense_variant,p.Arg1031Cys,ENST00000322507,NM_004370.5;COL12A1,missense_variant,p.Arg1031Cys,ENST00000483888,;COL12A1,missense_variant,p.Arg1031Cys,ENST00000416123,;COL12A1,intron_variant,,ENST00000345356,NM_080645.2;COL12A1,upstream_gene_variant,,ENST00000419671,;	uc003phs.2	c.3091C>T	3401/11723	2	2			c.3091C>T						6	SNP	c.(3091-3093)CGC>TGC	33	33			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9	Broad	collagen, type XII, alpha 1 long isoform			75866132		0.473	ENSG00000111799	3606	g.chr6:75866132G>A	cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength							45.06371	KEEP	8	15	-1	44	34	8	15	-1	51.065159	44	34	0.227273	1	0	0	0	0	1	0	0	0	--	--		0	A			COL12A1_uc003pht.2_Intron	143	GBM-14-1043-TP	p.R1031C	G	CCATGAGGGCGATAGACAACA	NM_004370	NP_004361	75866132	Q99715	COCA1_HUMAN	0			15	3257	-	A	A			Missense_Mutation	1031			Fibronectin type-III 7.			
COL12A1	0	broad.mit.edu	GRCh37	6	75858174	75858174	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1823-01	TCGA-14-1823-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322507.8:c.4187G>A	p.Arg1396Gln	p.R1396Q	ENST00000322507	NM_004370.5	1396	cGa/cAa	0	T:0	T:0	1	T:0		T	R/Q	uc003phs.2	protein_coding	YES	CCDS43482.1			4187/9192									ovary(6)|large_intestine(1)|breast(1)|skin(1)	9	c.(4186-4188)CGA>CAA			PROSITE_profiles:PS50853,hmmpanther:PTHR22992:SF23,hmmpanther:PTHR22992,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	collagen, type XII, alpha 1 long isoform		T:0	T:0.0001	ENSP00000325146	T:0	22/66	0.000323		0.000174	0.000819		6.02E-05	0.00112	0.00152	rs370549168,COSM3411286	22/66	common_variant		ENST00000322507	Transcript	1	T:0.0004	cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	ENSG00000111799	g.chr6:75858174C>T	2188			MODERATE		0.065	neutral	getma.org/?cm=msa&ty=f&p=COCA1_HUMAN&rb=1386&re=1465&var=R1396Q	getma.org/pdb.php?prot=COCA1_HUMAN&from=1386&to=1465&var=R1396Q	getma.org/?cm=var&var=hg19,6,75858174,C,T&fts=all	R1396Q	--	--	1																																		COL12A1_uc003pht.2_Missense_Mutation_p.R232Q	0,1	1		benign(0.005)	p.R1396Q	NM_004370	NP_004361	T:0.002		0,1	COCA1_HUMAN	COL12A1	HGNC	Q99715	COCA1_HUMAN					22	4353	-			UPI000045890B	1396			Fibronectin type-III 9.		SNV	COL12A1,missense_variant,p.Arg1396Gln,ENST00000322507,NM_004370.5;COL12A1,missense_variant,p.Arg1396Gln,ENST00000483888,;COL12A1,missense_variant,p.Arg1396Gln,ENST00000416123,;COL12A1,missense_variant,p.Arg232Gln,ENST00000345356,NM_080645.2;COL12A1,missense_variant,p.Arg138Gln,ENST00000419671,;COL12A1,upstream_gene_variant,,ENST00000474564,;	uc003phs.2	c.4187G>A	4497/11723	2	2			c.4187G>A						6	SNP	c.(4186-4188)CGA>CAA	34	34			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9	Broad	collagen, type XII, alpha 1 long isoform			75858174		0.398	ENSG00000111799	3606	g.chr6:75858174C>T	cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength							37.95866	KEEP	10	7	-1	38	26	10	7	-1	44.247506	38	26	0.205128	1	0	0	0	0	1	0	0	0	--	--		0	T			COL12A1_uc003pht.2_Missense_Mutation_p.R232Q	147	GBM-14-1823-TP	p.R1396Q	C	ACGATGGGTTCGCTCAGAAAT	NM_004370	NP_004361	75858174	Q99715	COCA1_HUMAN	0			22	4353	-	T	T			Missense_Mutation	1396			Fibronectin type-III 9.			
COL12A1	0	broad.mit.edu	GRCh37	6	75898089	75898089	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-5950-01	TCGA-19-5950-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322507.8:c.986G>T	p.Ser329Ile	p.S329I	ENST00000322507	NM_004370.5	329	aGt/aTt	0			1			A	S/I	uc003phs.2	protein_coding	YES	CCDS43482.1			986/9192									ovary(6)|large_intestine(1)|breast(1)|skin(1)	9	c.(985-987)AGT>ATT			Low_complexity_(Seg):seg,hmmpanther:PTHR22992:SF23,hmmpanther:PTHR22992	collagen, type XII, alpha 1 long isoform				ENSP00000325146		Aug-66									COSM2156574	Aug-66	.		ENST00000322507	Transcript	1		cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	ENSG00000111799	g.chr6:75898089C>A	2188			MODERATE		1.78	low	getma.org/?cm=msa&ty=f&p=COCA1_HUMAN&rb=283&re=364&var=S329I	getma.org/pdb.php?prot=COCA1_HUMAN&from=313&to=334&var=S329I	getma.org/?cm=var&var=hg19,6,75898089,C,A&fts=all	S329I	--	--	1																																		COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_5'UTR	1	1		probably_damaging(0.996)	p.S329I	NM_004370	NP_004361			1	COCA1_HUMAN	COL12A1	HGNC	Q99715	COCA1_HUMAN					8	1152	-			UPI000045890B	329					SNV	COL12A1,missense_variant,p.Ser329Ile,ENST00000322507,NM_004370.5;COL12A1,missense_variant,p.Ser329Ile,ENST00000483888,;COL12A1,missense_variant,p.Ser329Ile,ENST00000416123,;COL12A1,intron_variant,,ENST00000345356,NM_080645.2;COL12A1,non_coding_transcript_exon_variant,,ENST00000486533,;	uc003phs.2	c.986G>T	1296/11723	1	1			c.986G>T						6	SNP	c.(985-987)AGT>ATT	57	57			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9	Broad	collagen, type XII, alpha 1 long isoform			75898089		0.373	ENSG00000111799	3606	g.chr6:75898089C>A	cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength							121.417748	KEEP	19	25	0.568181818	37	57	19	25	0.568181818	124.593842	37	57	0.327869	1	0	0	0	0	1	0	0	0	--	--		0	A			COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_5'UTR	170	GBM-19-5950-TP	p.S329I	C	TTCTTCTCCACTAACCAATTC	NM_004370	NP_004361	75898089	Q99715	COCA1_HUMAN	0			8	1152	-	A	A			Missense_Mutation	329						
COL12A1	1303		GRCh37	6	75840567	75840567	+	splice_donor_variant	Splice_Site	SNP	C	C	T			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000322507.8:c.6067+1G>A		p.X2023_splice	ENST00000322507	NM_004370.5	2023		0																																																																																																																																																																																																																																												
COL14A1	7373	broad.mit.edu	GRCh37	8	121326187	121326187	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs142082215		TCGA-06-0686-01	TCGA-06-0686-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297848.3:c.4472G>A	p.Arg1491Gln	p.R1491Q	ENST00000297848	NM_021110.2	1491	cGg/cAg	0	A:0		1			A	R/Q	uc003yox.2	protein_coding	YES	CCDS34938.1			4472/5391									ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	c.(4471-4473)CGG>CAG			Low_complexity_(Seg):seg,hmmpanther:PTHR22992:SF89,hmmpanther:PTHR22992,Pfam_domain:PF01391	collagen, type XIV, alpha 1 precursor			A:0.0001	ENSP00000297848		38/48	4.94E-05		0.000173	0.000116		4.51E-05			rs142082215,COSM3412731	38/48	.		ENST00000297848	Transcript	1		cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	ENSG00000187955	g.chr8:121326187G>A	2191			MODERATE		0.575	neutral	getma.org/?cm=msa&ty=f&p=COEA1_HUMAN&rb=1460&re=1514&var=R1491Q	NA	getma.org/?cm=var&var=hg19,8,121326187,G,A&fts=all	R1491Q	--	--	1																																		COL14A1_uc003yoz.2_Missense_Mutation_p.R456Q	0,1	1		probably_damaging(0.997)	p.R1491Q	NM_021110	NP_066933		tolerated(0.06)	0,1	COEA1_HUMAN	COL14A1	HGNC	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)				38	4737	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		UPI000046D377	1491			Triple-helical region 1 (COL2).		SNV	COL14A1,missense_variant,p.Arg1491Gln,ENST00000297848,NM_021110.2;COL14A1,missense_variant,p.Arg1396Gln,ENST00000247781,;COL14A1,missense_variant,p.Arg1491Gln,ENST00000309791,;	uc003yox.2	c.4472G>A	4742/6466	2	2			c.4472G>A						8	SNP	c.(4471-4473)CGG>CAG	24	24			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Broad	collagen, type XIV, alpha 1 precursor			121326187		0.468	ENSG00000187955	3608	g.chr8:121326187G>A	cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			1131			1131	1.298557	KEEP	22	5	-1	201	129	22	5	-1	58.482723	201	129	0.079114	1	0	0	0	0	1	0	0	0	--	--		0	A			COL14A1_uc003yoz.2_Missense_Mutation_p.R456Q	64	GBM-06-0686-TP	p.R1491Q	G	GATGGCCCTCGGGGTGAAATT	NM_021110	NP_066933	121326187	Q05707	COEA1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		38	4737	+	A	A	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		Missense_Mutation	1491			Triple-helical region 1 (COL2).			
COL14A1	0	broad.mit.edu	GRCh37	8	121267573	121267573	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-27-1831-01	TCGA-27-1831-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297848.3:c.2847G>T	p.Arg949Ser	p.R949S	ENST00000297848	NM_021110.2	949	agG/agT	0			1			T	R/S	uc003yox.2	protein_coding	YES	CCDS34938.1			2847/5391									ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	c.(2845-2847)AGG>AGT			PROSITE_profiles:PS50853,hmmpanther:PTHR22992:SF89,hmmpanther:PTHR22992,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	collagen, type XIV, alpha 1 precursor				ENSP00000297848		23/48									COSM3412729	23/48	.		ENST00000297848	Transcript	1		cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	ENSG00000187955	g.chr8:121267573G>T	2191			MODERATE		2.165	medium	getma.org/?cm=msa&ty=f&p=COEA1_HUMAN&rb=921&re=998&var=R949S	getma.org/pdb.php?prot=COEA1_HUMAN&from=921&to=998&var=R949S	getma.org/?cm=var&var=hg19,8,121267573,G,T&fts=all	R949S	--	--	1																																		COL14A1_uc003yoy.2_Missense_Mutation_p.R627S	1	1		probably_damaging(0.999)	p.R949S	NM_021110	NP_066933		deleterious(0)	1	COEA1_HUMAN	COL14A1	HGNC	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)				23	3112	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		UPI000046D377	949			Fibronectin type-III 8.		SNV	COL14A1,missense_variant,p.Arg949Ser,ENST00000297848,NM_021110.2;COL14A1,missense_variant,p.Arg854Ser,ENST00000247781,;COL14A1,missense_variant,p.Arg949Ser,ENST00000309791,;COL14A1,missense_variant,p.Arg762Ser,ENST00000434620,;COL14A1,non_coding_transcript_exon_variant,,ENST00000432943,;	uc003yox.2	c.2847G>T	3117/6466	2	2			c.2847G>T						8	SNP	c.(2845-2847)AGG>AGT	45	45			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Broad	collagen, type XIV, alpha 1 precursor			121267573		0.453	ENSG00000187955	3608	g.chr8:121267573G>T	cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			1131			1131	201.624541	KEEP	41	43	0.488095238	76	64	41	43	0.488095238	204.650224	76	64	0.365079	1	0	0	0	0	1	0	0	0	--	--		0	T			COL14A1_uc003yoy.2_Missense_Mutation_p.R627S	190	GBM-27-1831-TP	p.R949S	G	CAGCCTATAGGGTTGTTATAG	NM_021110	NP_066933	121267573	Q05707	COEA1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		23	3112	+	T	T	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		Missense_Mutation	949			Fibronectin type-III 8.			
COL14A1	0	broad.mit.edu	GRCh37	8	121293282	121293282	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297848.3:c.3808G>A	p.Val1270Ile	p.V1270I	ENST00000297848	NM_021110.2	1270	Gtt/Att	0			1			A	V/I	uc003yox.2	protein_coding	YES	CCDS34938.1			3808/5391									ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	c.(3808-3810)GTT>ATT			hmmpanther:PTHR22992:SF89,hmmpanther:PTHR22992,SMART_domains:SM00210,Superfamily_domains:SSF49899	collagen, type XIV, alpha 1 precursor				ENSP00000297848		31/48									COSM3412730	31/48	.		ENST00000297848	Transcript	1		cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	ENSG00000187955	g.chr8:121293282G>A	2191			MODERATE		1.385	low	getma.org/?cm=msa&ty=f&p=COEA1_HUMAN&rb=1229&re=1424&var=V1270I	getma.org/pdb.php?prot=COEA1_HUMAN&from=1229&to=1424&var=V1270I	getma.org/?cm=var&var=hg19,8,121293282,G,A&fts=all	V1270I	--	--	1																																		COL14A1_uc003yoz.2_Missense_Mutation_p.V235I	1	1		benign(0.016)	p.V1270I	NM_021110	NP_066933		tolerated(0.31)	1	COEA1_HUMAN	COL14A1	HGNC	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)				31	4073	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		UPI000046D377	1270			Nonhelical region (NC4).|TSP N-terminal.		SNV	COL14A1,missense_variant,p.Val1270Ile,ENST00000297848,NM_021110.2;COL14A1,missense_variant,p.Val1175Ile,ENST00000247781,;COL14A1,missense_variant,p.Val1270Ile,ENST00000309791,;COL14A1,downstream_gene_variant,,ENST00000432943,;	uc003yox.2	c.3808G>A	4078/6466	2	2			c.3808G>A						8	SNP	c.(3808-3810)GTT>ATT	48	48			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Broad	collagen, type XIV, alpha 1 precursor			121293282		0.378	ENSG00000187955	3608	g.chr8:121293282G>A	cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			1131			1131	62.562626	KEEP	18	16	-1	71	88	18	16	-1	77.40058	71	88	0.186335	1	0	0	0	0	1	0	0	0	--	--		0	A			COL14A1_uc003yoz.2_Missense_Mutation_p.V235I	213	GBM-28-2513-TP	p.V1270I	G	AGATGCCCTGGTTTCCCAGCC	NM_021110	NP_066933	121293282	Q05707	COEA1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		31	4073	+	A	A	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		Missense_Mutation	1270			Nonhelical region (NC4).|TSP N-terminal.			
COL14A1	0	broad.mit.edu	GRCh37	8	121160106	121160106	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6573-01	TCGA-74-6573-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297848.3:c.25C>T	p.Arg9Trp	p.R9W	ENST00000297848	NM_021110.2	9	Cgg/Tgg	0			1			T	R/W	uc003yox.2	protein_coding	YES	CCDS34938.1			25/5391									ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	c.(25-27)CGG>TGG			Transmembrane_helices:TMhelix	collagen, type XIV, alpha 1 precursor				ENSP00000297848		Feb-48	4.94E-05	9.86E-05				1.54E-05		0.000127	rs771681479,COSM3412727	Feb-48	.		ENST00000297848	Transcript	1		cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	ENSG00000187955	g.chr8:121160106C>T	2191			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=COEA1_HUMAN&rb=1&re=30&var=R9W	NA	getma.org/?cm=var&var=hg19,8,121160106,C,T&fts=all	R9W	--	--	1																																			0,1	1		benign(0.001)	p.R9W	NM_021110	NP_066933		tolerated_low_confidence(0.09)	0,1	COEA1_HUMAN	COL14A1	HGNC	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)				2	290	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		UPI000046D377	9					SNV	COL14A1,missense_variant,p.Arg9Trp,ENST00000297848,NM_021110.2;COL14A1,missense_variant,p.Arg9Trp,ENST00000247781,;COL14A1,missense_variant,p.Arg9Trp,ENST00000309791,;COL14A1,missense_variant,p.Arg9Trp,ENST00000537875,;COL14A1,non_coding_transcript_exon_variant,,ENST00000432943,;COL14A1,missense_variant,p.Arg9Trp,ENST00000498051,;	uc003yox.2	c.25C>T	295/6466	2	2			c.25C>T						8	SNP	c.(25-27)CGG>TGG	35	35			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Broad	collagen, type XIV, alpha 1 precursor			121160106		0.423	ENSG00000187955	3608	g.chr8:121160106C>T	cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			1131			1131	49.433376	KEEP	10	9	-1	13	11	10	9	-1	49.521779	13	11	0.45	1	0	0	0	0	1	0	0	0	--	--		0	T				260	GBM-74-6573-TP	p.R9W	C	GCGCAAGATGCGGTACTGGTT	NM_021110	NP_066933	121160106	Q05707	COEA1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		2	290	+	T	T	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		Missense_Mutation	9						
COL15A1	1306	broad.mit.edu	GRCh37	9	101797331	101797331	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0169-01	TCGA-06-0169-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375001.3:c.2115G>A	p.Pro705=	p.P705=	ENST00000375001	NM_001855.4	705	ccG/ccA	0			1			A	P	uc004azb.1	protein_coding	YES	CCDS35081.1			2115/4167									ovary(6)	6	c.(2113-2115)CCG>CCA			Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF398,Low_complexity_(Seg):seg	alpha 1 type XV collagen precursor				ENSP00000364140		18/42	1.65E-05		8.70E-05				0.00112		rs778442724,COSM1755837	18/42	.		ENST00000375001	Transcript			angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	ENSG00000204291	g.chr9:101797331G>A	2192			LOW								--	--	1																																			0,1	1			p.P705P	NM_001855	NP_001846			0,1	COFA1_HUMAN	COL15A1	HGNC	P39059	COFA1_HUMAN					18	2321	+		Acute lymphoblastic leukemia(62;0.0562)	UPI0000211506	705			Triple-helical region 2 (COL2).		SNV	COL15A1,synonymous_variant,p.=,ENST00000375001,NM_001855.4;COL15A1,upstream_gene_variant,,ENST00000496686,;	uc004azb.1	c.2115G>A	2538/5491	1	1			c.2115G>A						9	SNP	c.(2113-2115)CCG>CCA	62	62			ovary(6)	6	Broad	alpha 1 type XV collagen precursor			101797331		0.612	ENSG00000204291	3609	g.chr9:101797331G>A	angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding							91.85288	KEEP	24	14	-1	66	61	24	14	-1	101.613105	66	61	0.233333	1	0	0	0	0	0	0	1	0	--	--		0	A				34	GBM-06-0169-TP	p.P705P	G	CTGGACCCCCGGGGAAAAAGG	NM_001855	NP_001846	101797331	P39059	COFA1_HUMAN	0			18	2321	+	A	A		Acute lymphoblastic leukemia(62;0.0562)	Silent	705			Triple-helical region 2 (COL2).			
COL15A1	0	broad.mit.edu	GRCh37	9	101788194	101788194	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0740-01	TCGA-14-0740-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375001.3:c.1989G>A	p.Glu663=	p.E663=	ENST00000375001	NM_001855.4	663	gaG/gaA	0			1			A	E	uc004azb.1	protein_coding	YES	CCDS35081.1			1989/4167									ovary(6)	6	c.(1987-1989)GAG>GAA			Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF398,Low_complexity_(Seg):seg	alpha 1 type XV collagen precursor				ENSP00000364140		16/42									COSM3413198	16/42	.		ENST00000375001	Transcript			angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	ENSG00000204291	g.chr9:101788194G>A	2192			LOW								--	--	1																																			1	1			p.E663E	NM_001855	NP_001846			1	COFA1_HUMAN	COL15A1	HGNC	P39059	COFA1_HUMAN					16	2195	+		Acute lymphoblastic leukemia(62;0.0562)	UPI0000211506	663			Triple-helical region 2 (COL2).		SNV	COL15A1,synonymous_variant,p.=,ENST00000375001,NM_001855.4;	uc004azb.1	c.1989G>A	2412/5491	2	2			c.1989G>A						9	SNP	c.(1987-1989)GAG>GAA	48	48			ovary(6)	6	Broad	alpha 1 type XV collagen precursor			101788194		0.582	ENSG00000204291	3609	g.chr9:101788194G>A	angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding							40.906332	KEEP	9	5	-1	3	3	9	5	-1	41.551038	3	3	0.705882	1	0	0	0	0	0	0	1	0	--	--		0	A				132	GBM-14-0740-TP	p.E663E	G	AGGGCCCTGAGGGACAGCCTG	NM_001855	NP_001846	101788194	P39059	COFA1_HUMAN	0			16	2195	+	A	A		Acute lymphoblastic leukemia(62;0.0562)	Silent	663			Triple-helical region 2 (COL2).			
COL16A1	0	broad.mit.edu	GRCh37	1	32164172	32164172	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01	TCGA-12-0618-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373672.3:c.302C>T	p.Ala101Val	p.A101V	ENST00000373672	NM_001856.3	101	gCc/gTc	0			1			A	A/V	uc001btk.1	protein_coding	YES	CCDS41297.1			302/4815									ovary(8)	8	c.(301-303)GCC>GTC			SMART_domains:SM00210,Superfamily_domains:SSF49899	alpha 1 type XVI collagen precursor				ENSP00000362776		May-71									COSM3400674,COSM3400675	May-71	.		ENST00000373672	Transcript			cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	ENSG00000084636	g.chr1:32164172G>A	2193			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=COGA1_HUMAN&rb=50&re=231&var=A101V	getma.org/pdb.php?prot=COGA1_HUMAN&from=50&to=231&var=A101V	getma.org/?cm=var&var=hg19,1,32164172,G,A&fts=all	A101V	--	--	1																																		COL16A1_uc001btj.1_5'UTR|COL16A1_uc001btl.3_Missense_Mutation_p.A101V	1,1	1		unknown(0)	p.A101V	NM_001856	NP_001847			1,1	COGA1_HUMAN	COL16A1	HGNC	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)			5	667	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	UPI0000203DD1	101			TSP N-terminal.		SNV	COL16A1,missense_variant,p.Ala101Val,ENST00000373672,NM_001856.3;COL16A1,missense_variant,p.Ala101Val,ENST00000271069,;COL16A1,missense_variant,p.Ala101Val,ENST00000373668,;COL16A1,upstream_gene_variant,,ENST00000373667,;COL16A1,non_coding_transcript_exon_variant,,ENST00000532877,;	uc001btk.1	c.302C>T	819/5736	2	2			c.302C>T						1	SNP	c.(301-303)GCC>GTC	28	28			ovary(8)	8	Broad	alpha 1 type XVI collagen precursor			32164172		0.567	ENSG00000084636	3610	g.chr1:32164172G>A	cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	Colon(143;498 1786 21362 25193 36625)			Colon(143;498 1786 21362 25193 36625)			-30.639414	KEEP	3	2	-1	78	83	3	2	-1	6.512888	78	83	0.026667	1	0	0	0	0	1	0	0	0	--	--		0	A			COL16A1_uc001btj.1_5'UTR|COL16A1_uc001btl.3_Missense_Mutation_p.A101V	119	GBM-12-0618-TP	p.A101V	G	CAGCACCAGGGCAAACTCCTC	NM_001856	NP_001847	32164172	Q07092	COGA1_HUMAN	0		STAD - Stomach adenocarcinoma(196;0.059)	5	667	-	A	A		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	Missense_Mutation	101			TSP N-terminal.			
COL16A1	0	broad.mit.edu	GRCh37	1	32163660	32163660	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-27-1830-01	TCGA-27-1830-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373672.3:c.504G>A	p.Trp168Ter	p.W168*	ENST00000373672	NM_001856.3	168	tgG/tgA	0			1			T	W/*	uc001btk.1	protein_coding	YES	CCDS41297.1			504/4815									ovary(8)	8	c.(502-504)TGG>TGA			Gene3D:2.60.120.200,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF372,SMART_domains:SM00210,Superfamily_domains:SSF49899	alpha 1 type XVI collagen precursor				ENSP00000362776		Jun-71									COSM3400672,COSM3400673	Jun-71	.		ENST00000373672	Transcript			cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	ENSG00000084636	g.chr1:32163660C>T	2193			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,32163660,C,T&fts=all	W168*	--	--	1																																		COL16A1_uc001btj.1_5'UTR|COL16A1_uc001btl.3_Nonsense_Mutation_p.W168*	1,1	1			p.W168*	NM_001856	NP_001847			1,1	COGA1_HUMAN	COL16A1	HGNC	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)			6	869	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	UPI0000203DD1	168			TSP N-terminal.		SNV	COL16A1,stop_gained,p.Trp168Ter,ENST00000373672,NM_001856.3;COL16A1,stop_gained,p.Trp168Ter,ENST00000271069,;COL16A1,stop_gained,p.Trp168Ter,ENST00000373668,;COL16A1,upstream_gene_variant,,ENST00000373667,;COL16A1,downstream_gene_variant,,ENST00000532877,;	uc001btk.1	c.504G>A	1021/5736	5	1			c.504G>A						1	SNP	c.(502-504)TGG>TGA	11	11			ovary(8)	8	Broad	alpha 1 type XVI collagen precursor			32163660		0.642	ENSG00000084636	3610	g.chr1:32163660C>T	cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	Colon(143;498 1786 21362 25193 36625)			Colon(143;498 1786 21362 25193 36625)			-26.072091	KEEP	3	1	-1	83	82	3	1	-1	6.98341	83	82	0.029412	1	0	0	0	0	0	1	0	0	--	--		0	T			COL16A1_uc001btj.1_5'UTR|COL16A1_uc001btl.3_Nonsense_Mutation_p.W168*	189	GBM-27-1830-TP	p.W168*	C	TCAGCTTGTGCCAACGCAAGT	NM_001856	NP_001847	32163660	Q07092	COGA1_HUMAN	0		STAD - Stomach adenocarcinoma(196;0.059)	6	869	-	T	T		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	Nonsense_Mutation	168			TSP N-terminal.			
COL16A1	0	broad.mit.edu	GRCh37	1	32126216	32126216	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-27-2527-01	TCGA-27-2527-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373672.3:c.3849C>A	p.Pro1283=	p.P1283=	ENST00000373672	NM_001856.3	1283	ccC/ccA	0			1			T	P	uc001btk.1	protein_coding	YES	CCDS41297.1			3849/4815									ovary(8)	8	c.(3847-3849)CCC>CCA			hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF372,Low_complexity_(Seg):seg	alpha 1 type XVI collagen precursor				ENSP00000362776		62/71									COSM3400670,COSM3400671	62/71	.		ENST00000373672	Transcript			cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	ENSG00000084636	g.chr1:32126216G>T	2193			LOW								--	--	1																																		COL16A1_uc001bti.1_5'UTR|COL16A1_uc001btj.1_Silent_p.P1081P	1,1	1			p.P1283P	NM_001856	NP_001847			1,1	COGA1_HUMAN	COL16A1	HGNC	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)			62	4214	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	UPI0000203DD1	1283			Triple-helical region 2 (COL2) with 2 imperfections.		SNV	COL16A1,synonymous_variant,p.=,ENST00000373672,NM_001856.3;COL16A1,synonymous_variant,p.=,ENST00000271069,;COL16A1,synonymous_variant,p.=,ENST00000440437,;RP11-73M7.6,downstream_gene_variant,,ENST00000610043,;RP11-73M7.6,downstream_gene_variant,,ENST00000591929,;RP11-73M7.6,downstream_gene_variant,,ENST00000585413,;RP11-73M7.6,downstream_gene_variant,,ENST00000609549,;RP11-73M7.6,downstream_gene_variant,,ENST00000609033,;RP11-73M7.6,downstream_gene_variant,,ENST00000589462,;RP11-73M7.6,downstream_gene_variant,,ENST00000609625,;RP11-73M7.6,downstream_gene_variant,,ENST00000607926,;RP11-73M7.6,downstream_gene_variant,,ENST00000587445,;RP11-73M7.6,downstream_gene_variant,,ENST00000585660,;RP11-73M7.6,downstream_gene_variant,,ENST00000610216,;RP11-73M7.6,downstream_gene_variant,,ENST00000609373,;RP11-73M7.6,downstream_gene_variant,,ENST00000608246,;RP11-73M7.6,downstream_gene_variant,,ENST00000593188,;RP11-73M7.6,downstream_gene_variant,,ENST00000608888,;RP11-73M7.6,downstream_gene_variant,,ENST00000608332,;RP11-73M7.6,downstream_gene_variant,,ENST00000591592,;RP11-73M7.6,downstream_gene_variant,,ENST00000609338,;RP11-73M7.6,downstream_gene_variant,,ENST00000588288,;RP11-73M7.6,downstream_gene_variant,,ENST00000445166,;COL16A1,non_coding_transcript_exon_variant,,ENST00000466829,;COL16A1,upstream_gene_variant,,ENST00000461217,;COL16A1,non_coding_transcript_exon_variant,,ENST00000488128,;COL16A1,non_coding_transcript_exon_variant,,ENST00000488897,;COL16A1,non_coding_transcript_exon_variant,,ENST00000470799,;COL16A1,non_coding_transcript_exon_variant,,ENST00000482910,;	uc001btk.1	c.3849C>A	4366/5736	2	2			c.3849C>A						1	SNP	c.(3847-3849)CCC>CCA	46	46			ovary(8)	8	Broad	alpha 1 type XVI collagen precursor			32126216		0.547	ENSG00000084636	3610	g.chr1:32126216G>T	cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	Colon(143;498 1786 21362 25193 36625)			Colon(143;498 1786 21362 25193 36625)			33.284502	KEEP	8	14	0.363636364	67	86	8	14	0.363636364	53.463109	67	86	0.134615	1	0	0	0	0	0	0	1	0	--	--		0	T			COL16A1_uc001bti.1_5'UTR|COL16A1_uc001btj.1_Silent_p.P1081P	204	GBM-27-2527-TP	p.P1283P	G	GTCTTCCCTGGGGTCCCATGG	NM_001856	NP_001847	32126216	Q07092	COGA1_HUMAN	0		STAD - Stomach adenocarcinoma(196;0.059)	62	4214	-	T	T		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	Silent	1283			Triple-helical region 2 (COL2) with 2 imperfections.			
COL17A1	1308	broad.mit.edu	GRCh37	10	105823552	105823552	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01	TCGA-06-0878-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000353479.5:c.791C>T	p.Ala264Val	p.A264V	ENST00000353479	NM_000494.3	264	gCg/gTg	0		A:0.0008	1	A:0		A	A/V	uc001kxr.2	protein_coding	YES	CCDS7554.1			791/4494									ovary(4)|pancreas(1)	5	c.(790-792)GCG>GTG				alpha 1 type XVII collagen		A:0		ENSP00000340937	A:0	Nov-56	2.47E-05	9.63E-05				3.00E-05			rs531924876,COSM2060260	Nov-56	.		ENST00000353479	Transcript	1	A:0.0002	cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	ENSG00000065618	g.chr10:105823552G>A	2194			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=COHA1_HUMAN&rb=1&re=469&var=A264V	NA	getma.org/?cm=var&var=hg19,10,105823552,G,A&fts=all	A264V	--	--	1																																		COL17A1_uc010qqv.1_Missense_Mutation_p.A248V|COL17A1_uc009xxp.1_Missense_Mutation_p.A264V	0,1	1		unknown(0)	p.A264V	NM_000494	NP_000485	A:0		0,1	COHA1_HUMAN	COL17A1	HGNC	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)			11	960	-		Colorectal(252;0.103)|Breast(234;0.122)	UPI000006DB58	264			Cytoplasmic (Potential).|Nonhelical region (NC16).		SNV	COL17A1,missense_variant,p.Ala264Val,ENST00000353479,NM_000494.3;COL17A1,missense_variant,p.Ala264Val,ENST00000369733,;COL17A1,missense_variant,p.Ala264Val,ENST00000393211,;COL17A1,non_coding_transcript_exon_variant,,ENST00000488320,;	uc001kxr.2	c.791C>T	1082/5734	2	2			c.791C>T						10	SNP	c.(790-792)GCG>GTG	46	46			ovary(4)|pancreas(1)	5	Broad	alpha 1 type XVII collagen			105823552		0.517	ENSG00000065618	3611	g.chr10:105823552G>A	cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding							0.391272	KEEP	3	4	-1	35	36	3	4	-1	13.360807	35	36	0.082192	1	0	0	0	0	1	0	0	0	--	--		0	A			COL17A1_uc010qqv.1_Missense_Mutation_p.A248V|COL17A1_uc009xxp.1_Missense_Mutation_p.A264V	74	GBM-06-0878-TP	p.A264V	G	TGAGCAGGACGCCATGTTGTT	NM_000494	NP_000485	105823552	Q9UMD9	COHA1_HUMAN	0		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	11	960	-	A	A		Colorectal(252;0.103)|Breast(234;0.122)	Missense_Mutation	264			Cytoplasmic (Potential).|Nonhelical region (NC16).			
COL17A1	1308	broad.mit.edu	GRCh37	10	105798253	105798253	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01	TCGA-06-2559-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000353479.5:c.2981C>T	p.Pro994Leu	p.P994L	ENST00000353479	NM_000494.3	994	cCg/cTg	0			1			A	P/L	uc001kxr.2	protein_coding	YES	CCDS7554.1			2981/4494									ovary(4)|pancreas(1)	5	c.(2980-2982)CCG>CTG			Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF455,hmmpanther:PTHR24023	alpha 1 type XVII collagen				ENSP00000340937		45/56	8.24E-06		8.70E-05						rs763518143,COSM914476	45/56	.		ENST00000353479	Transcript	1		cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	ENSG00000065618	g.chr10:105798253G>A	2194			MODERATE		1.43	low	getma.org/?cm=msa&ty=f&p=COHA1_HUMAN&rb=810&re=1009&var=P994L	NA	getma.org/?cm=var&var=hg19,10,105798253,G,A&fts=all	P994L	--	--	1																																			0,1	1		probably_damaging(0.992)	p.P994L	NM_000494	NP_000485			0,1	COHA1_HUMAN	COL17A1	HGNC	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)			45	3150	-		Colorectal(252;0.103)|Breast(234;0.122)	UPI000006DB58	994			Extracellular (Potential).|Triple-helical region.		SNV	COL17A1,missense_variant,p.Pro994Leu,ENST00000353479,NM_000494.3;COL17A1,missense_variant,p.Pro949Leu,ENST00000369733,;	uc001kxr.2	c.2981C>T	3272/5734	1	1			c.2981C>T						10	SNP	c.(2980-2982)CCG>CTG	55	55			ovary(4)|pancreas(1)	5	Broad	alpha 1 type XVII collagen			105798253		0.597	ENSG00000065618	3611	g.chr10:105798253G>A	cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding							371.407101	KEEP	51	63	-1	13	11	51	63	-1	383.790413	13	11	0.824	1	0	0	0	0	1	0	0	0	--	--		0	A				83	GBM-06-2559-TP	p.P994L	G	GGGCCCTGGCGGGCCTGACAC	NM_000494	NP_000485	105798253	Q9UMD9	COHA1_HUMAN	0		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	45	3150	-	A	A		Colorectal(252;0.103)|Breast(234;0.122)	Missense_Mutation	994			Extracellular (Potential).|Triple-helical region.			
COL17A1	0	broad.mit.edu	GRCh37	10	105813706	105813706	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-16-1045-01	TCGA-16-1045-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000353479.5:c.1806A>G	p.Gln602=	p.Q602=	ENST00000353479	NM_000494.3	602	caA/caG	0			1			C	Q	uc001kxr.2	protein_coding	YES	CCDS7554.1			1806/4494									ovary(4)|pancreas(1)	5	c.(1804-1806)CAA>CAG			Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF455,hmmpanther:PTHR24023,Pfam_domain:PF01391	alpha 1 type XVII collagen				ENSP00000340937		22/56									rs755560804,COSM3396904	22/56	.		ENST00000353479	Transcript	1		cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	ENSG00000065618	g.chr10:105813706T>C	2194			LOW								--	--	1																																		COL17A1_uc010qqv.1_Silent_p.Q586Q	0,1	1			p.Q602Q	NM_000494	NP_000485			0,1	COHA1_HUMAN	COL17A1	HGNC	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)			22	1975	-		Colorectal(252;0.103)|Breast(234;0.122)	UPI000006DB58	602			Extracellular (Potential).|Triple-helical region.		SNV	COL17A1,synonymous_variant,p.=,ENST00000353479,NM_000494.3;COL17A1,synonymous_variant,p.=,ENST00000369733,;COL17A1,downstream_gene_variant,,ENST00000480127,;	uc001kxr.2	c.1806A>G	2097/5734	3	3			c.1806A>G						10	SNP	c.(1804-1806)CAA>CAG	7	7			ovary(4)|pancreas(1)	5	Broad	alpha 1 type XVII collagen			105813706		0.408	ENSG00000065618	3611	g.chr10:105813706T>C	cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding							-9.338786	KEEP	1	2	-1	36	40	1	2	-1	6.358567	36	40	0.042857	1	0	0	0	0	0	0	1	0	--	--		0	C			COL17A1_uc010qqv.1_Silent_p.Q586Q	157	GBM-16-1045-TP	p.Q602Q	T	CCTTTGGTCCTTGTGGACCTG	NM_000494	NP_000485	105813706	Q9UMD9	COHA1_HUMAN	0		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	22	1975	-	C	C		Colorectal(252;0.103)|Breast(234;0.122)	Silent	602			Extracellular (Potential).|Triple-helical region.			
COL17A1	0	broad.mit.edu	GRCh37	10	105798222	105798222	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-28-5207-01	TCGA-28-5207-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000353479.5:c.3012G>T	p.Pro1004=	p.P1004=	ENST00000353479	NM_000494.3	1004	ccG/ccT	0			1			A	P	uc001kxr.2	protein_coding	YES	CCDS7554.1			3012/4494									ovary(4)|pancreas(1)	5	c.(3010-3012)CCG>CCT			Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF455,hmmpanther:PTHR24023	alpha 1 type XVII collagen				ENSP00000340937		45/56									COSM3396903	45/56	.		ENST00000353479	Transcript	1		cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	ENSG00000065618	g.chr10:105798222C>A	2194			LOW								--	--	1																																			1	1			p.P1004P	NM_000494	NP_000485			1	COHA1_HUMAN	COL17A1	HGNC	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)			45	3181	-		Colorectal(252;0.103)|Breast(234;0.122)	UPI000006DB58	1004			Extracellular (Potential).|Triple-helical region.		SNV	COL17A1,synonymous_variant,p.=,ENST00000353479,NM_000494.3;COL17A1,synonymous_variant,p.=,ENST00000369733,;	uc001kxr.2	c.3012G>T	3303/5734	1	1			c.3012G>T						10	SNP	c.(3010-3012)CCG>CCT	50	50			ovary(4)|pancreas(1)	5	Broad	alpha 1 type XVII collagen			105798222		0.607	ENSG00000065618	3611	g.chr10:105798222C>A	cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding							-44.059301	KEEP	2	2	0.5	107	95	2	2	0.5	7.022325	107	95	0.020202	1	0	0	0	0	0	0	1	0	--	--		0	A				216	GBM-28-5207-TP	p.P1004P	C	TGATAGAGCCCGGAGGCCCAG	NM_000494	NP_000485	105798222	Q9UMD9	COHA1_HUMAN	0		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	45	3181	-	A	A		Colorectal(252;0.103)|Breast(234;0.122)	Silent	1004			Extracellular (Potential).|Triple-helical region.			
COL18A1	80781	broad.mit.edu	GRCh37	21	46925140	46925141	+	inframe_insertion	In_Frame_Ins	INS	-	-	GGCCCCCCA			TCGA-02-2483-01	TCGA-02-2483-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355480.5:c.3513_3521dup	p.Gly1174_Pro1176dup	p.G1174_P1176dup	ENST00000355480	NM_030582.3	1174	-/GGCCCCCCA	0			1			GGCCCCCCA	-/GPP	uc011afs.1	protein_coding					4206-4207/5265									central_nervous_system(1)	1	c.(4195-4200)insGGCCCCCCA			Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF390	alpha 1 type XVIII collagen isoform 3 precursor				ENSP00000352798		34/41									rs759403198	34/41	.		ENST00000359759	Transcript	1		cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	ENSG00000182871	g.chr21:46925140_46925141insGGCCCCCCA	2195	20		MODERATE								--	--	1																																		COL18A1_uc002zhg.2_In_Frame_Ins_p.993_994insGPP|COL18A1_uc002zhi.2_In_Frame_Ins_p.1173_1174insGPP|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.2_5'UTR|COL18A1_uc002zhk.2_5'Flank					p.1408_1409insGPP	NM_130444	NP_569711				COIA1_HUMAN	COL18A1	HGNC	P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)			35	4218_4219	+			UPI0001838820	1411_1412			Nonhelical region 10 (NC10).		insertion	COL18A1,inframe_insertion,p.Gly1409_Pro1411dup,ENST00000359759,;COL18A1,inframe_insertion,p.Gly1174_Pro1176dup,ENST00000355480,NM_030582.3;COL18A1,inframe_insertion,p.Gly994_Pro996dup,ENST00000400337,NM_130445.2;COL18A1,inframe_insertion,p.Gly341_Pro343dup,ENST00000342220,;SLC19A1,intron_variant,,ENST00000417954,;SLC19A1,intron_variant,,ENST00000567670,;COL18A1,upstream_gene_variant,,ENST00000423214,;SLC19A1,upstream_gene_variant,,ENST00000461785,;COL18A1,upstream_gene_variant,,ENST00000473212,;	uc011afs.1	c.4197_4198insGGCCCCCCA	4227-4228/6607	5	5			c.4197_4198insGGCCCCCCA						21	INS	c.(4195-4200)insGGCCCCCCA	43	43			central_nervous_system(1)	1	Broad	alpha 1 type XVIII collagen isoform 3 precursor			46925141		0.733	ENSG00000182871	3612	g.chr21:46925140_46925141insGGCCCCCCA	cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding		p.GPP1171del(647V-Tumor)|p.P1164P(NCIH1648-Tumor)|p.GPP1171del(NCIH2291-Tumor)	1836		p.GPP1171del(647V-Tumor)|p.P1164P(NCIH1648-Tumor)|p.GPP1171del(NCIH2291-Tumor)	1836														0.38	1	0	0	1	1	0	0	0	0	--	--		0	GGCCCCCCA			COL18A1_uc002zhg.2_In_Frame_Ins_p.993_994insGPP|COL18A1_uc002zhi.2_In_Frame_Ins_p.1173_1174insGPP|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.2_5'UTR|COL18A1_uc002zhk.2_5'Flank	6	GBM-02-2483-TP	p.1408_1409insGPP	-	AGGGCCCTCCCGGCCCCCCAGG	NM_130444	NP_569711	46925140	P39060	COIA1_HUMAN	0		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	35	4218_4219	+	GGCCCCCCA	GGCCCCCCA			In_Frame_Ins	1411_1412			Nonhelical region 10 (NC10).			
COL18A1	0	broad.mit.edu	GRCh37	21	46911174	46911174	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-1034-01	TCGA-14-1034-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359759.4:c.3348C>T	p.Gly1116=	p.G1116=	ENST00000359759		1116	ggC/ggT	0	T:0		1			T	G	uc011afs.1	protein_coding					3348/5265									central_nervous_system(1)	1	c.(3346-3348)GGC>GGT			Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF390,Pfam_domain:PF01391	alpha 1 type XVIII collagen isoform 3 precursor			T:0.0001	ENSP00000352798		21/41	1.67E-05					3.18E-05			rs377652187,COSM2155207,COSM2155208	21/41	.		ENST00000359759	Transcript	1		cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	ENSG00000182871	g.chr21:46911174C>T	2195			LOW								--	--	1																																		COL18A1_uc002zhg.2_Silent_p.G701G|COL18A1_uc002zhi.2_Silent_p.G881G	0,1,1				p.G1116G	NM_130444	NP_569711			0,1,1	COIA1_HUMAN	COL18A1	HGNC	P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)			21	3369	+			UPI0001838820	1116			Triple-helical region 4 (COL4).		SNV	COL18A1,synonymous_variant,p.=,ENST00000359759,;COL18A1,synonymous_variant,p.=,ENST00000355480,NM_030582.3;COL18A1,synonymous_variant,p.=,ENST00000400337,NM_130445.2;COL18A1,synonymous_variant,p.=,ENST00000342220,;SLC19A1,downstream_gene_variant,,ENST00000417954,;COL18A1,upstream_gene_variant,,ENST00000459895,;	uc011afs.1	c.3348C>T	3369/6607	2	2			c.3348C>T						21	SNP	c.(3346-3348)GGC>GGT	45	45			central_nervous_system(1)	1	Broad	alpha 1 type XVIII collagen isoform 3 precursor			46911174		0.682	ENSG00000182871	3612	g.chr21:46911174C>T	cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			1836			1836	47.619938	KEEP	5	19	-1	14	19	5	19	-1	47.941609	14	19	0.409091	1	0	0	0	0	0	0	1	0	--	--		0	T			COL18A1_uc002zhg.2_Silent_p.G701G|COL18A1_uc002zhi.2_Silent_p.G881G	142	GBM-14-1034-TP	p.G1116G	C	GGCAGCCGGGCCTCCCTGGCC	NM_130444	NP_569711	46911174	P39060	COIA1_HUMAN	0		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	21	3369	+	T	T			Silent	1116			Triple-helical region 4 (COL4).			
COL18A1	0	broad.mit.edu	GRCh37	21	46875768	46875768	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-26-5133-01	TCGA-26-5133-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359759.4:c.324C>T	p.Ala108=	p.A108=	ENST00000359759		108	gcC/gcT	0	T:0		1			T	A	uc011afs.1	protein_coding					324/5265									central_nervous_system(1)	1	c.(322-324)GCC>GCT			Pfam_domain:PF06121	alpha 1 type XVIII collagen isoform 3 precursor			T:0.0001	ENSP00000352798		Jan-41	5.78E-05					0.000108			rs370000815,COSM2821726,COSM2821727	Jan-41	.		ENST00000359759	Transcript	1		cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	ENSG00000182871	g.chr21:46875768C>T	2195			LOW								--	--	1																																		COL18A1_uc002zhg.2_Intron|COL18A1_uc002zhi.2_Silent_p.A108A	0,1,1				p.A108A	NM_130444	NP_569711			0,1,1	COIA1_HUMAN	COL18A1	HGNC	P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)			1	345	+			UPI0001838820	108					SNV	COL18A1,synonymous_variant,p.=,ENST00000359759,;COL18A1,synonymous_variant,p.=,ENST00000355480,NM_030582.3;COL18A1,intron_variant,,ENST00000400337,NM_130445.2;	uc011afs.1	c.324C>T	345/6607	1	1			c.324C>T						21	SNP	c.(322-324)GCC>GCT	1	1			central_nervous_system(1)	1	Broad	alpha 1 type XVIII collagen isoform 3 precursor			46875768		0.642	ENSG00000182871	3612	g.chr21:46875768C>T	cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding		p.A108A(HLF-Tumor)	1836		p.A108A(HLF-Tumor)	1836	-21.825884	KEEP	3	2	-1	69	75	3	2	-1	8.945035	69	75	0.037594	1	0	0	0	0	0	0	1	0	--	--		0	T			COL18A1_uc002zhg.2_Intron|COL18A1_uc002zhi.2_Silent_p.A108A	182	GBM-26-5133-TP	p.A108A	C	AGAACATTGCCGGTGTCGGAG	NM_130444	NP_569711	46875768	P39060	COIA1_HUMAN	0		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	1	345	+	T	T			Silent	108						
COL18A1	80781		GRCh37	21	46897864	46897864	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000355480.5:c.1747del	p.Arg583GlyfsTer29	p.R583Gfs*29	ENST00000355480	NM_030582.3	582	ggA/gg	0																																																																																																																																																																																																																																												
COL19A1	1310	broad.mit.edu	GRCh37	6	70840111	70840111	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0137-01	TCGA-06-0137-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322773.4:c.1379A>G	p.Asp460Gly	p.D460G	ENST00000322773	NM_001858.4	460	gAc/gGc	0			1			G	D/G	uc003pfc.1	protein_coding	YES	CCDS4970.1			1379/3429									ovary(2)|breast(2)	4	c.(1378-1380)GAC>GGC			hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF80	alpha 1 type XIX collagen precursor				ENSP00000316030		18/51									COSM2149572	18/51	.		ENST00000322773	Transcript			cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	ENSG00000082293	g.chr6:70840111A>G	2196			MODERATE		1.605	low	getma.org/?cm=msa&ty=f&p=COJA1_HUMAN&rb=452&re=533&var=D460G	NA	getma.org/?cm=var&var=hg19,6,70840111,A,G&fts=all	D460G	--	--	1																																		COL19A1_uc010kam.1_Missense_Mutation_p.D356G	1	1		benign(0.094)	p.D460G	NM_001858	NP_001849		deleterious(0.03)	1	COJA1_HUMAN	COL19A1	HGNC	Q14993	COJA1_HUMAN					18	1496	+			UPI000004F1E3	460			Triple-helical region 3 (COL3).		SNV	COL19A1,missense_variant,p.Asp460Gly,ENST00000322773,NM_001858.4;COL19A1,missense_variant,p.Asp82Gly,ENST00000393344,;COL19A1,missense_variant,p.Asp34Gly,ENST00000455415,;	uc003pfc.1	c.1379A>G	1481/6232	4	4			c.1379A>G						6	SNP	c.(1378-1380)GAC>GGC	28	28			ovary(2)|breast(2)	4	Broad	alpha 1 type XIX collagen precursor			70840111		0.199	ENSG00000082293	3613	g.chr6:70840111A>G	cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging							105.087968	KEEP	18	13	-1	9	16	18	13	-1	105.369267	9	16	0.58	1	0	0	0	0	1	0	0	0	--	--		0	G			COL19A1_uc010kam.1_Missense_Mutation_p.D356G	18	GBM-06-0137-TP	p.D460G	A	CTGAAAGGAGACAAGGTAATC	NM_001858	NP_001849	70840111	Q14993	COJA1_HUMAN	0			18	1496	+	G	G			Missense_Mutation	460			Triple-helical region 3 (COL3).			
COL19A1	1310	broad.mit.edu	GRCh37	6	70642699	70642699	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0211-01	TCGA-06-0211-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322773.4:c.691T>A	p.Tyr231Asn	p.Y231N	ENST00000322773	NM_001858.4	231	Tac/Aac	0			1			A	Y/N	uc003pfc.1	protein_coding	YES	CCDS4970.1			691/3429									ovary(2)|breast(2)	4	c.(691-693)TAC>AAC			Gene3D:2.60.120.200,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF80,SMART_domains:SM00210,Superfamily_domains:SSF49899	alpha 1 type XIX collagen precursor				ENSP00000316030		Jul-51									COSM2150807	Jul-51	.		ENST00000322773	Transcript			cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	ENSG00000082293	g.chr6:70642699T>A	2196			MODERATE		2.365	medium	getma.org/?cm=msa&ty=f&p=COJA1_HUMAN&rb=50&re=234&var=Y231N	getma.org/pdb.php?prot=COJA1_HUMAN&from=50&to=234&var=Y231N	getma.org/?cm=var&var=hg19,6,70642699,T,A&fts=all	Y231N	--	--	1																																		COL19A1_uc010kam.1_Missense_Mutation_p.Y127N	1	1		unknown(0)	p.Y231N	NM_001858	NP_001849		deleterious(0)	1	COJA1_HUMAN	COL19A1	HGNC	Q14993	COJA1_HUMAN					7	808	+			UPI000004F1E3	231			TSP N-terminal.		SNV	COL19A1,missense_variant,p.Tyr231Asn,ENST00000322773,NM_001858.4;COL19A1,upstream_gene_variant,,ENST00000483745,;	uc003pfc.1	c.691T>A	793/6232	2	2			c.691T>A						6	SNP	c.(691-693)TAC>AAC	18	18			ovary(2)|breast(2)	4	Broad	alpha 1 type XIX collagen precursor			70642699		0.303	ENSG00000082293	3613	g.chr6:70642699T>A	cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging							52.438069	KEEP	12	9	-1	17	17	12	9	-1	53.002699	17	17	0.382979	1	0	0	0	0	1	0	0	0	--	--		0	A			COL19A1_uc010kam.1_Missense_Mutation_p.Y127N	48	GBM-06-0211-TP	p.Y231N	T	ACTTAAAATCTACTGCAGTGC	NM_001858	NP_001849	70642699	Q14993	COJA1_HUMAN	0			7	808	+	A	A			Missense_Mutation	231			TSP N-terminal.			
COL19A1	1310	broad.mit.edu	GRCh37	6	70916651	70916651	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2569-01	TCGA-06-2569-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322773.4:c.3270G>A	p.Leu1090=	p.L1090=	ENST00000322773	NM_001858.4	1090	ctG/ctA	0			1			A	L	uc003pfc.1	protein_coding	YES	CCDS4970.1			3270/3429									ovary(2)|breast(2)	4	c.(3268-3270)CTG>CTA			hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF80,Low_complexity_(Seg):seg	alpha 1 type XIX collagen precursor				ENSP00000316030		50/51									COSM3411249	50/51	.		ENST00000322773	Transcript			cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	ENSG00000082293	g.chr6:70916651G>A	2196			LOW								--	--	1																																			1	1			p.L1090L	NM_001858	NP_001849			1	COJA1_HUMAN	COL19A1	HGNC	Q14993	COJA1_HUMAN					50	3387	+			UPI000004F1E3	1090			Triple-helical region 6 (COL6).		SNV	COL19A1,synonymous_variant,p.=,ENST00000322773,NM_001858.4;COL19A1,synonymous_variant,p.=,ENST00000393344,;	uc003pfc.1	c.3270G>A	3372/6232	2	2			c.3270G>A						6	SNP	c.(3268-3270)CTG>CTA	44	44			ovary(2)|breast(2)	4	Broad	alpha 1 type XIX collagen precursor			70916651		0.458	ENSG00000082293	3613	g.chr6:70916651G>A	cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging							-19.876519	KEEP	6	3	-1	90	75	6	3	-1	11.516251	90	75	0.042857	1	0	0	0	0	0	0	1	0	--	--		0	A				90	GBM-06-2569-TP	p.L1090L	G	GAATTGGGCTGCCAGGGAGTC	NM_001858	NP_001849	70916651	Q14993	COJA1_HUMAN	0			50	3387	+	A	A			Silent	1090			Triple-helical region 6 (COL6).			
COL19A1	0	broad.mit.edu	GRCh37	6	70637867	70637867	+	synonymous_variant	Silent	SNP	C	C	T	rs143252227	byFrequency	TCGA-28-5219-01	TCGA-28-5219-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322773.4:c.333C>T	p.Asn111=	p.N111=	ENST00000322773	NM_001858.4	111	aaC/aaT	0	T:0.0007	T:0.0008	1	T:0		T	N	uc003pfc.1	protein_coding	YES	CCDS4970.1			333/3429									ovary(2)|breast(2)	4	c.(331-333)AAC>AAT			Gene3D:2.60.120.200,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF80,SMART_domains:SM00210,Superfamily_domains:SSF49899	alpha 1 type XIX collagen precursor		T:0	T:0	ENSP00000316030	T:0	May-51	3.29E-05	0.000192				1.50E-05		6.06E-05	rs143252227,COSM3160955	May-51	.		ENST00000322773	Transcript		T:0.0002	cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	ENSG00000082293	g.chr6:70637867C>T	2196			LOW								--	--	1																																		COL19A1_uc010kam.1_Silent_p.N7N	0,1	1			p.N111N	NM_001858	NP_001849	T:0		0,1	COJA1_HUMAN	COL19A1	HGNC	Q14993	COJA1_HUMAN					5	450	+			UPI000004F1E3	111	FRVRRNAKKERWFL -> ETTVPFWRFFVLET (in Ref. 6; AAA36358).		TSP N-terminal.		SNV	COL19A1,synonymous_variant,p.=,ENST00000322773,NM_001858.4;	uc003pfc.1	c.333C>T	435/6232	1	1			c.333C>T						6	SNP	c.(331-333)AAC>AAT	7	7			ovary(2)|breast(2)	4	Broad	alpha 1 type XIX collagen precursor			70637867		0.428	ENSG00000082293	3613	g.chr6:70637867C>T	cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging							178.642589	KEEP	40	42	-1	81	112	40	42	-1	185.300259	81	112	0.313084	1	0	0	0	0	0	0	1	0	--	--		0	T			COL19A1_uc010kam.1_Silent_p.N7N	225	GBM-28-5219-TP	p.N111N	C	TACGAAGAAACGCCAAAAAGG	NM_001858	NP_001849	70637867	Q14993	COJA1_HUMAN	0			5	450	+	T	T			Silent	111	FRVRRNAKKERWFL -> ETTVPFWRFFVLET (in Ref. 6; AAA36358).		TSP N-terminal.			
COL19A1	0	broad.mit.edu	GRCh37	6	70878104	70878104	+	synonymous_variant	Silent	SNP	T	T	A			TCGA-41-2571-01	TCGA-41-2571-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322773.4:c.2538T>A	p.Pro846=	p.P846=	ENST00000322773	NM_001858.4	846	ccT/ccA	0			1			A	P	uc003pfc.1	protein_coding	YES	CCDS4970.1			2538/3429									ovary(2)|breast(2)	4	c.(2536-2538)CCT>CCA			Pfam_domain:PF01391,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF80,Low_complexity_(Seg):seg	alpha 1 type XIX collagen precursor				ENSP00000316030		39/51									COSM3411248	39/51	.		ENST00000322773	Transcript			cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	ENSG00000082293	g.chr6:70878104T>A	2196			LOW								--	--	1																																			1	1			p.P846P	NM_001858	NP_001849			1	COJA1_HUMAN	COL19A1	HGNC	Q14993	COJA1_HUMAN					39	2655	+			UPI000004F1E3	846			Triple-helical region 5 (COL5).		SNV	COL19A1,synonymous_variant,p.=,ENST00000322773,NM_001858.4;COL19A1,synonymous_variant,p.=,ENST00000393344,;	uc003pfc.1	c.2538T>A	2640/6232	2	2			c.2538T>A						6	SNP	c.(2536-2538)CCT>CCA	41	41			ovary(2)|breast(2)	4	Broad	alpha 1 type XIX collagen precursor			70878104		0.328	ENSG00000082293	3613	g.chr6:70878104T>A	cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging							98.861102	KEEP	22	16	-1	20	30	22	16	-1	99.204101	20	30	0.428571	1	0	0	0	0	0	0	1	0	--	--		0	A				250	GBM-41-2571-TP	p.P846P	T	CACCCGGTCCTCCTGTAAGTA	NM_001858	NP_001849	70878104	Q14993	COJA1_HUMAN	0			39	2655	+	A	A			Silent	846			Triple-helical region 5 (COL5).			
COL1A1	0	broad.mit.edu	GRCh37	17	48275131	48275131	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs72667036		TCGA-12-0619-01	TCGA-12-0619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000225964.5:c.658C>T	p.Arg220Ter	p.R220*	ENST00000225964	NM_000088.3	220	Cga/Tga	0			1			A	R/*	uc002iqm.2	protein_coding	YES	CCDS11561.1			658/4395	T	Osteogenesis imperfecta	PDGFB|USP6		dermatofibrosarcoma protuberans|aneurysmal bone cyst		COL1A1/PDGFB(372)	p.R220*(1)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382	c.(658-660)CGA>TGA			Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF54,Pfam_domain:PF01391	alpha 1 type I collagen preproprotein	Collagenase(DB00048)|Palifermin(DB00039)			ENSP00000225964		Sep-51									rs72667036,COSM42802	Sep-51	.		ENST00000225964	Transcript	1		axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	ENSG00000108821	g.chr17:48275131G>A	2197			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,17,48275131,G,A&fts=all	R220*	--	--	1																																			0,1	1			p.R220*	NM_000088	NP_000079			0,1	CO1A1_HUMAN	COL1A1	HGNC	P02452	CO1A1_HUMAN			Q9UMA6_HUMAN,Q6LAN8_HUMAN		9	784	-			UPI000013C88B	220			Triple-helical region.		SNV	COL1A1,stop_gained,p.Arg220Ter,ENST00000225964,NM_000088.3;COL1A1,downstream_gene_variant,,ENST00000507689,;COL1A1,non_coding_transcript_exon_variant,,ENST00000495677,;COL1A1,upstream_gene_variant,,ENST00000471344,;COL1A1,downstream_gene_variant,,ENST00000474644,;COL1A1,upstream_gene_variant,,ENST00000463440,;COL1A1,upstream_gene_variant,,ENST00000476387,;COL1A1,upstream_gene_variant,,ENST00000485870,;	uc002iqm.2	c.658C>T	777/6727	5	2			c.658C>T	T	Osteogenesis imperfecta	PDGFB|USP6		dermatofibrosarcoma protuberans|aneurysmal bone cyst	17	SNP	c.(658-660)CGA>TGA	47	47	COL1A1/PDGFB(372)	p.R220*(1)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382	Broad	alpha 1 type I collagen preproprotein		Collagenase(DB00048)|Palifermin(DB00039)	48275131		0.507	ENSG00000108821	3614	g.chr17:48275131G>A	axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding			504			504	452.687554	KEEP	70	89	-1	133	143	70	89	-1	458.417256	133	143	0.368	1	0	0	0	0	0	1	0	0	--	--		0	A				120	GBM-12-0619-TP	p.R220*	G	GGGGGACCTCGGGGACCCATG	NM_000088	NP_000079	48275131	P02452	CO1A1_HUMAN	0			9	784	-	A	A			Nonsense_Mutation	220			Triple-helical region.			
COL1A1	0	broad.mit.edu	GRCh37	17	48263379	48263379	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A			TCGA-19-5955-01	TCGA-19-5955-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000225964.5:c.4008C>T	p.Phe1336=	p.F1336=	ENST00000225964	NM_000088.3	1336	ttC/ttT	0			1			A	F	uc002iqm.2	protein_coding	YES	CCDS11561.1			4008/4395	T	Osteogenesis imperfecta	PDGFB|USP6		dermatofibrosarcoma protuberans|aneurysmal bone cyst		COL1A1/PDGFB(372)		soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382	c.(4006-4008)TTC>TTT			PROSITE_profiles:PS51461,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF54,Pfam_domain:PF01410,SMART_domains:SM00038	alpha 1 type I collagen preproprotein	Collagenase(DB00048)|Palifermin(DB00039)			ENSP00000225964		50/51	1.65E-05	0.000102						6.06E-05	rs763676384,COSM3402991	50/51	.		ENST00000225964	Transcript	1		axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	ENSG00000108821	g.chr17:48263379G>A	2197			LOW								--	--	1																																			0,1	1			p.F1336F	NM_000088	NP_000079			0,1	CO1A1_HUMAN	COL1A1	HGNC	P02452	CO1A1_HUMAN			Q9UMA6_HUMAN,Q6LAN8_HUMAN		50	4134	-			UPI000013C88B	1336			Fibrillar collagen NC1.		SNV	COL1A1,splice_region_variant,p.=,ENST00000225964,NM_000088.3;HILS1,upstream_gene_variant,,ENST00000504307,;COL1A1,non_coding_transcript_exon_variant,,ENST00000510710,;COL1A1,downstream_gene_variant,,ENST00000486572,;COL1A1,downstream_gene_variant,,ENST00000511732,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000494334,;	uc002iqm.2	c.4008C>T	4127/6727	2	2			c.4008C>T	T	Osteogenesis imperfecta	PDGFB|USP6		dermatofibrosarcoma protuberans|aneurysmal bone cyst	17	SNP	c.(4006-4008)TTC>TTT	17	17	COL1A1/PDGFB(372)		soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382	Broad	alpha 1 type I collagen preproprotein		Collagenase(DB00048)|Palifermin(DB00039)	48263379		0.637	ENSG00000108821	3614	g.chr17:48263379G>A	axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding			504			504	19.911235	KEEP	3	8	-1	30	32	3	8	-1	26.232749	30	32	0.166667	1	0	0	0	0	0	0	1	0	--	--		0	A				175	GBM-19-5955-TP	p.F1336F	G	CGCCATACTCGAACTGCAGGG	NM_000088	NP_000079	48263379	P02452	CO1A1_HUMAN	0			50	4134	-	A	A			Silent	1336			Fibrillar collagen NC1.			
COL1A1	0	broad.mit.edu	GRCh37	17	48268238	48268238	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-41-2571-01	TCGA-41-2571-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000225964.5:c.2283C>A	p.Gly761=	p.G761=	ENST00000225964	NM_000088.3	761	ggC/ggA	0			1			T	G	uc002iqm.2	protein_coding	YES	CCDS11561.1			2283/4395	T	Osteogenesis imperfecta	PDGFB|USP6		dermatofibrosarcoma protuberans|aneurysmal bone cyst		COL1A1/PDGFB(372)		soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382	c.(2281-2283)GGC>GGA			hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF54	alpha 1 type I collagen preproprotein	Collagenase(DB00048)|Palifermin(DB00039)			ENSP00000225964		33/51									COSM3402992	33/51	.		ENST00000225964	Transcript	1		axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	ENSG00000108821	g.chr17:48268238G>T	2197			LOW								--	--	1																																			1	1			p.G761G	NM_000088	NP_000079			1	CO1A1_HUMAN	COL1A1	HGNC	P02452	CO1A1_HUMAN			Q9UMA6_HUMAN,Q6LAN8_HUMAN		33	2409	-			UPI000013C88B	761			Triple-helical region.		SNV	COL1A1,synonymous_variant,p.=,ENST00000225964,NM_000088.3;COL1A1,non_coding_transcript_exon_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000471344,;COL1A1,upstream_gene_variant,,ENST00000510710,;COL1A1,upstream_gene_variant,,ENST00000486572,;COL1A1,upstream_gene_variant,,ENST00000511732,;COL1A1,downstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000504289,;	uc002iqm.2	c.2283C>A	2402/6727	2	2			c.2283C>A	T	Osteogenesis imperfecta	PDGFB|USP6		dermatofibrosarcoma protuberans|aneurysmal bone cyst	17	SNP	c.(2281-2283)GGC>GGA	17	17	COL1A1/PDGFB(372)		soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382	Broad	alpha 1 type I collagen preproprotein		Collagenase(DB00048)|Palifermin(DB00039)	48268238		0.587	ENSG00000108821	3614	g.chr17:48268238G>T	axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding			504			504	88.052611	KEEP	16	20	0.444444444	20	28	16	20	0.444444444	88.503801	20	28	0.414286	1	0	0	0	0	0	0	1	0	--	--		0	T				250	GBM-41-2571-TP	p.G761G	G	GACCACGGACGCCATCTTTGC	NM_000088	NP_000079	48268238	P02452	CO1A1_HUMAN	0			33	2409	-	T	T			Silent	761			Triple-helical region.			
COL1A2	1278	broad.mit.edu	GRCh37	7	94040216	94040216	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0211-01	TCGA-06-0211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297268.6:c.1213C>T	p.Arg405Cys	p.R405C	ENST00000297268	NM_000089.3	405	Cgt/Tgt	0			1			T	R/C	uc003ung.1	protein_coding	YES	CCDS34682.1			1213/4101							COL1A2/PLAG1(3)		soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	c.(1213-1215)CGT>TGT			Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF441	alpha 2 type I collagen precursor	Collagenase(DB00048)			ENSP00000297268		22/52	1.65E-05	9.61E-05				1.50E-05			rs749509413,COSM2150784	22/52	.		ENST00000297268	Transcript	1		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	ENSG00000164692	g.chr7:94040216C>T	2198			MODERATE		3.005	medium	getma.org/?cm=msa&ty=f&p=CO1A2_HUMAN&rb=208&re=407&var=R405C	getma.org/pdb.php?prot=CO1A2_HUMAN&from=208&to=407&var=R405C	getma.org/?cm=var&var=hg19,7,94040216,C,T&fts=all	R405C	--	--	1				HNSCC(75;0.22)																														COL1A2_uc011kib.1_Intron	0,1	1		probably_damaging(0.993)	p.R405C	NM_000089	NP_000080			0,1	CO1A2_HUMAN	COL1A2	HGNC	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		Q75N18_HUMAN,A2TIK1_HUMAN		22	1684	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		UPI00003B0CFC	405					SNV	COL1A2,missense_variant,p.Arg405Cys,ENST00000297268,NM_000089.3;COL1A2,upstream_gene_variant,,ENST00000473573,;COL1A2,upstream_gene_variant,,ENST00000488298,;	uc003ung.1	c.1213C>T	1684/5411	1	1			c.1213C>T						7	SNP	c.(1213-1215)CGT>TGT	6	6	COL1A2/PLAG1(3)		soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	Broad	alpha 2 type I collagen precursor		Collagenase(DB00048)	94040216		0.448	ENSG00000164692	3615	g.chr7:94040216C>T	axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging							124.87973	KEEP	25	33	-1	94	82	25	33	-1	136.015553	94	82	0.25	1	0	0	0	0	1	0	0	0	--	--	HNSCC(75;0.22)	0	T			COL1A2_uc011kib.1_Intron	48	GBM-06-0211-TP	p.R405C	C	TCCTGGTTCTCGTGGTCTTCC	NM_000089	NP_000080	94040216	P08123	CO1A2_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.0031)		22	1684	+	T	T	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		Missense_Mutation	405						
COL1A2	1278	broad.mit.edu	GRCh37	7	94037543	94037543	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0646-01	TCGA-06-0646-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297268.6:c.688C>T	p.Pro230Ser	p.P230S	ENST00000297268	NM_000089.3	230	Cca/Tca	0			1			T	P/S	uc003ung.1	protein_coding	YES	CCDS34682.1			688/4101							COL1A2/PLAG1(3)	p.P230S(1)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	c.(688-690)CCA>TCA			Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF441	alpha 2 type I collagen precursor	Collagenase(DB00048)			ENSP00000297268		14/52									COSM42982	14/52	.		ENST00000297268	Transcript	1		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	ENSG00000164692	g.chr7:94037543C>T	2198			MODERATE		1.27	low	getma.org/?cm=msa&ty=f&p=CO1A2_HUMAN&rb=208&re=407&var=P230S	getma.org/pdb.php?prot=CO1A2_HUMAN&from=208&to=407&var=P230S	getma.org/?cm=var&var=hg19,7,94037543,C,T&fts=all	P230S	--	--	1				HNSCC(75;0.22)																														COL1A2_uc011kib.1_Intron	1	1		unknown(0)	p.P230S	NM_000089	NP_000080			1	CO1A2_HUMAN	COL1A2	HGNC	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		Q75N18_HUMAN,A2TIK1_HUMAN		14	1159	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		UPI00003B0CFC	230					SNV	COL1A2,missense_variant,p.Pro230Ser,ENST00000297268,NM_000089.3;	uc003ung.1	c.688C>T	1159/5411	2	2			c.688C>T						7	SNP	c.(688-690)CCA>TCA	32	32	COL1A2/PLAG1(3)	p.P230S(1)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	Broad	alpha 2 type I collagen precursor		Collagenase(DB00048)	94037543		0.398	ENSG00000164692	3615	g.chr7:94037543C>T	axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging							145.257445	KEEP	33	27	-1	82	77	33	27	-1	154.489938	82	77	0.26943	1	0	0	0	0	1	0	0	0	--	--	HNSCC(75;0.22)	0	T			COL1A2_uc011kib.1_Intron	60	GBM-06-0646-TP	p.P230S	C	TGCCCCTGGCCCAGCTGTAAG	NM_000089	NP_000080	94037543	P08123	CO1A2_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.0031)		14	1159	+	T	T	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		Missense_Mutation	230						
COL1A2	1278	broad.mit.edu	GRCh37	7	94056341	94056341	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0743-01	TCGA-06-0743-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297268.6:c.3127G>C	p.Ala1043Pro	p.A1043P	ENST00000297268	NM_000089.3	1043	Gct/Cct	0			1			C	A/P	uc003ung.1	protein_coding	YES	CCDS34682.1			3127/4101							COL1A2/PLAG1(3)		soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	c.(3127-3129)GCT>CCT			Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF441	alpha 2 type I collagen precursor	Collagenase(DB00048)			ENSP00000297268		47/52									COSM3412506	47/52	.		ENST00000297268	Transcript	1		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	ENSG00000164692	g.chr7:94056341G>C	2198			MODERATE		0.1	neutral	getma.org/?cm=msa&ty=f&p=CO1A2_HUMAN&rb=866&re=1044&var=A1043P	getma.org/pdb.php?prot=CO1A2_HUMAN&from=866&to=1044&var=A1043P	getma.org/?cm=var&var=hg19,7,94056341,G,C&fts=all	A1043P	--	--	1				HNSCC(75;0.22)																														COL1A2_uc011kib.1_Intron	1	1		unknown(0)	p.A1043P	NM_000089	NP_000080			1	CO1A2_HUMAN	COL1A2	HGNC	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		Q75N18_HUMAN,A2TIK1_HUMAN		47	3598	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		UPI00003B0CFC	1043					SNV	COL1A2,missense_variant,p.Ala1043Pro,ENST00000297268,NM_000089.3;COL1A2,non_coding_transcript_exon_variant,,ENST00000481570,;COL1A2,non_coding_transcript_exon_variant,,ENST00000492110,;COL1A2,non_coding_transcript_exon_variant,,ENST00000488121,;COL1A2,upstream_gene_variant,,ENST00000464916,;COL1A2,downstream_gene_variant,,ENST00000497316,;COL1A2,downstream_gene_variant,,ENST00000478215,;COL1A2,downstream_gene_variant,,ENST00000473573,;COL1A2,downstream_gene_variant,,ENST00000469732,;	uc003ung.1	c.3127G>C	3598/5411	3	3			c.3127G>C						7	SNP	c.(3127-3129)GCT>CCT	56	56	COL1A2/PLAG1(3)		soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	Broad	alpha 2 type I collagen precursor		Collagenase(DB00048)	94056341		0.458	ENSG00000164692	3615	g.chr7:94056341G>C	axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging							55.520163	KEEP	7	13	-1	19	40	7	13	-1	58.756461	19	40	0.268657	1	0	0	0	0	1	0	0	0	--	--	HNSCC(75;0.22)	0	C			COL1A2_uc011kib.1_Intron	65	GBM-06-0743-TP	p.A1043P	G	TGATCAAGGTGCTCCTGGCTC	NM_000089	NP_000080	94056341	P08123	CO1A2_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.0031)		47	3598	+	C	C	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		Missense_Mutation	1043						
COL1A2	0	broad.mit.edu	GRCh37	7	94055328	94055328	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-15-0742-01	TCGA-15-0742-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297268.6:c.2962G>C	p.Gly988Arg	p.G988R	ENST00000297268	NM_000089.3	988	Ggt/Cgt	0			1			C	G/R	uc003ung.1	protein_coding	YES	CCDS34682.1			2962/4101							COL1A2/PLAG1(3)		soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	c.(2962-2964)GGT>CGT			Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF441	alpha 2 type I collagen precursor	Collagenase(DB00048)			ENSP00000297268		45/52									COSM3412505	45/52	.		ENST00000297268	Transcript	1		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	ENSG00000164692	g.chr7:94055328G>C	2198			MODERATE		4.275	high	getma.org/?cm=msa&ty=f&p=CO1A2_HUMAN&rb=866&re=1044&var=G988R	getma.org/pdb.php?prot=CO1A2_HUMAN&from=866&to=1044&var=G988R	getma.org/?cm=var&var=hg19,7,94055328,G,C&fts=all	G988R	--	--	1				HNSCC(75;0.22)																														COL1A2_uc011kib.1_Intron	1	1		unknown(0)	p.G988R	NM_000089	NP_000080			1	CO1A2_HUMAN	COL1A2	HGNC	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		Q75N18_HUMAN,A2TIK1_HUMAN		45	3433	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		UPI00003B0CFC	988					SNV	COL1A2,missense_variant,p.Gly988Arg,ENST00000297268,NM_000089.3;COL1A2,non_coding_transcript_exon_variant,,ENST00000481570,;COL1A2,non_coding_transcript_exon_variant,,ENST00000478215,;COL1A2,upstream_gene_variant,,ENST00000464916,;COL1A2,downstream_gene_variant,,ENST00000497316,;COL1A2,downstream_gene_variant,,ENST00000473573,;COL1A2,downstream_gene_variant,,ENST00000461525,;COL1A2,downstream_gene_variant,,ENST00000467931,;COL1A2,downstream_gene_variant,,ENST00000469732,;COL1A2,upstream_gene_variant,,ENST00000492110,;COL1A2,upstream_gene_variant,,ENST00000488121,;	uc003ung.1	c.2962G>C	3433/5411	3	3			c.2962G>C						7	SNP	c.(2962-2964)GGT>CGT	14	14	COL1A2/PLAG1(3)		soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	Broad	alpha 2 type I collagen precursor		Collagenase(DB00048)	94055328		0.478	ENSG00000164692	3615	g.chr7:94055328G>C	axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging							-36.338722	KEEP	4	6	-1	139	142	4	6	-1	21.502164	139	142	0.03629	1	0	0	0	0	1	0	0	0	--	--	HNSCC(75;0.22)	0	C			COL1A2_uc011kib.1_Intron	153	GBM-15-0742-TP	p.G988R	G	TGGTCCTGTTGGTCCTGCTGG	NM_000089	NP_000080	94055328	P08123	CO1A2_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.0031)		45	3433	+	C	C	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		Missense_Mutation	988						
COL1A2	0	broad.mit.edu	GRCh37	7	94054949	94054949	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs72659309		TCGA-28-5209-01	TCGA-28-5209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297268.6:c.2809G>T	p.Gly937Cys	p.G937C	ENST00000297268	NM_000089.3	937	Ggt/Tgt	0			1			T	G/C	uc003ung.1	protein_coding	YES	CCDS34682.1			2809/4101							COL1A2/PLAG1(3)	p.G937S(1)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	c.(2809-2811)GGT>TGT			Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF441	alpha 2 type I collagen precursor	Collagenase(DB00048)			ENSP00000297268		43/52									rs72659309,COSM3412504	43/52	.		ENST00000297268	Transcript	1		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	ENSG00000164692	g.chr7:94054949G>T	2198			MODERATE		3.985	high	getma.org/?cm=msa&ty=f&p=CO1A2_HUMAN&rb=866&re=1044&var=G937C	getma.org/pdb.php?prot=CO1A2_HUMAN&from=866&to=1044&var=G937C	getma.org/?cm=var&var=hg19,7,94054949,G,T&fts=all	G937C	--	--	1				HNSCC(75;0.22)																														COL1A2_uc011kib.1_Intron	0,1	1		unknown(0)	p.G937C	NM_000089	NP_000080			0,1	CO1A2_HUMAN	COL1A2	HGNC	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		Q75N18_HUMAN,A2TIK1_HUMAN		43	3280	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		UPI00003B0CFC	937					SNV	COL1A2,missense_variant,p.Gly937Cys,ENST00000297268,NM_000089.3;COL1A2,non_coding_transcript_exon_variant,,ENST00000481570,;COL1A2,non_coding_transcript_exon_variant,,ENST00000478215,;COL1A2,non_coding_transcript_exon_variant,,ENST00000469732,;COL1A2,upstream_gene_variant,,ENST00000464916,;COL1A2,downstream_gene_variant,,ENST00000497316,;COL1A2,downstream_gene_variant,,ENST00000473573,;COL1A2,downstream_gene_variant,,ENST00000461525,;COL1A2,downstream_gene_variant,,ENST00000467931,;COL1A2,upstream_gene_variant,,ENST00000492110,;COL1A2,upstream_gene_variant,,ENST00000488121,;	uc003ung.1	c.2809G>T	3280/5411	1	1			c.2809G>T						7	SNP	c.(2809-2811)GGT>TGT	3	3	COL1A2/PLAG1(3)	p.G937S(1)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	Broad	alpha 2 type I collagen precursor		Collagenase(DB00048)	94054949		0.478	ENSG00000164692	3615	g.chr7:94054949G>T	axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging							172.133746	KEEP	38	46	0.452380952	110	104	38	46	0.452380952	184.557687	110	104	0.26506	1	0	0	0	0	1	0	0	0	--	--	HNSCC(75;0.22)	0	T			COL1A2_uc011kib.1_Intron	218	GBM-28-5209-TP	p.G937C	G	TGGTCCCCCAGGTCGCGATGG	NM_000089	NP_000080	94054949	P08123	CO1A2_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.0031)		43	3280	+	T	T	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		Missense_Mutation	937						
COL1A2	0	broad.mit.edu	GRCh37	7	94040399	94040399	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4934-01	TCGA-76-4934-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297268.6:c.1283C>T	p.Pro428Leu	p.P428L	ENST00000297268	NM_000089.3	428	cCt/cTt	0			1			T	P/L	uc003ung.1	protein_coding	YES	CCDS34682.1			1283/4101							COL1A2/PLAG1(3)		soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	c.(1282-1284)CCT>CTT			Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF441	alpha 2 type I collagen precursor	Collagenase(DB00048)			ENSP00000297268		23/52									COSM3412502	23/52	.		ENST00000297268	Transcript	1		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	ENSG00000164692	g.chr7:94040399C>T	2198			MODERATE		1.71	low	getma.org/?cm=msa&ty=f&p=CO1A2_HUMAN&rb=408&re=459&var=P428L	getma.org/pdb.php?prot=CO1A2_HUMAN&from=408&to=459&var=P428L	getma.org/?cm=var&var=hg19,7,94040399,C,T&fts=all	P428L	--	--	1				HNSCC(75;0.22)																														COL1A2_uc011kib.1_Intron	1	1		probably_damaging(0.995)	p.P428L	NM_000089	NP_000080			1	CO1A2_HUMAN	COL1A2	HGNC	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		Q75N18_HUMAN,A2TIK1_HUMAN		23	1754	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		UPI00003B0CFC	428					SNV	COL1A2,missense_variant,p.Pro428Leu,ENST00000297268,NM_000089.3;COL1A2,upstream_gene_variant,,ENST00000473573,;COL1A2,upstream_gene_variant,,ENST00000488298,;	uc003ung.1	c.1283C>T	1754/5411	2	2			c.1283C>T						7	SNP	c.(1282-1284)CCT>CTT	35	35	COL1A2/PLAG1(3)		soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	Broad	alpha 2 type I collagen precursor		Collagenase(DB00048)	94040399		0.507	ENSG00000164692	3615	g.chr7:94040399C>T	axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging							17.503021	KEEP	2	6	-1	18	14	2	6	-1	20.638701	18	14	0.194444	1	0	0	0	0	1	0	0	0	--	--	HNSCC(75;0.22)	0	T			COL1A2_uc011kib.1_Intron	272	GBM-76-4934-TP	p.P428L	C	GCAAGTGGCCCTGCTGGAGTC	NM_000089	NP_000080	94040399	P08123	CO1A2_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.0031)		23	1754	+	T	T	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		Missense_Mutation	428						
COL1A2	1278		GRCh37	7	94052404	94052404	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000297268.6:c.2539G>A	p.Gly847Ser	p.G847S	ENST00000297268	NM_000089.3	847	Ggt/Agt	0																																																																																																																																																																																																																																												
COL1A2	1278		GRCh37	7	94039107	94039107	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000297268.6:c.1009G>A	p.Gly337Ser	p.G337S	ENST00000297268	NM_000089.3	337	Ggt/Agt	0																																																																																																																																																																																																																																												
COL1A2	1278		GRCh37	7	94042435	94042435	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000297268.6:c.1544T>A	p.Leu515His	p.L515H	ENST00000297268	NM_000089.3	515	cTt/cAt	0																																																																																																																																																																																																																																												
COL1A2	1278		GRCh37	7	94039079	94039079	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000297268.6:c.981C>T	p.Arg327=	p.R327=	ENST00000297268	NM_000089.3	327	cgC/cgT	0																																																																																																																																																																																																																																												
COL20A1	57642	broad.mit.edu	GRCh37	20	61938888	61938888	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-06-0169-01	TCGA-06-0169-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358894.6:c.543C>G	p.Val181=	p.V181=	ENST00000358894	NM_020882.2	181	gtC/gtG	0			1			G	V	uc011aau.1	protein_coding	YES	CCDS46628.1			543/3855									central_nervous_system(1)	1	c.(541-543)GTC>GTG			Gene3D:3.40.50.410,Pfam_domain:PF00092,Prints_domain:PR00453,PROSITE_profiles:PS50234,SMART_domains:SM00327,Superfamily_domains:SSF53300	collagen, type XX, alpha 1				ENSP00000351767		Jun-36									COSM3405275,COSM3405273,COSM3405274	Jun-36	.		ENST00000358894	Transcript			cell adhesion	collagen|extracellular space	structural molecule activity	ENSG00000101203	g.chr20:61938888C>G	14670			LOW								--	--	1																																		COL20A1_uc011aav.1_Silent_p.V2V	1,1,1	1			p.V181V	NM_020882	NP_065933			1,1,1	COKA1_HUMAN	COL20A1	HGNC	Q9P218	COKA1_HUMAN					6	643	+	all_cancers(38;1.39e-10)		UPI000051910D	181			VWFA.		SNV	COL20A1,synonymous_variant,p.=,ENST00000422202,;COL20A1,synonymous_variant,p.=,ENST00000326996,;COL20A1,synonymous_variant,p.=,ENST00000435874,;COL20A1,synonymous_variant,p.=,ENST00000358894,NM_020882.2;COL20A1,non_coding_transcript_exon_variant,,ENST00000479501,;	uc011aau.1	c.543C>G	643/4172	4	4			c.543C>G						20	SNP	c.(541-543)GTC>GTG	27	27			central_nervous_system(1)	1	Broad	collagen, type XX, alpha 1			61938888		0.652	ENSG00000101203	3616	g.chr20:61938888C>G	cell adhesion	collagen|extracellular space	structural molecule activity							14.293224	KEEP	6	2	-1	18	28	6	2	-1	20.081843	18	28	0.145833	1	0	0	0	0	0	0	1	0	--	--		0	G			COL20A1_uc011aav.1_Silent_p.V2V	34	GBM-06-0169-TP	p.V181V	C	CTGACATGGTCTTCCTGGTGG	NM_020882	NP_065933	61938888	Q9P218	COKA1_HUMAN	0			6	643	+	G	G	all_cancers(38;1.39e-10)		Silent	181			VWFA.			
COL20A1	57642		GRCh37	20	61959711	61959711	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000358894.6:c.3642C>T	p.His1214=	p.H1214=	ENST00000358894	NM_020882.2	1214	caC/caT	0																																																																																																																																																																																																																																												
COL21A1	0	broad.mit.edu	GRCh37	6	56044496	56044496	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-08-0386-01	TCGA-08-0386-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000244728.5:c.520A>G	p.Thr174Ala	p.T174A	ENST00000244728	NM_030820.3	174	Aca/Gca	0			1			C	T/A	uc003pcs.2	protein_coding	YES	CCDS55025.1			520/2874									ovary(2)	2	c.(520-522)ACA>GCA			Superfamily_domains:SSF53300,SMART_domains:SM00327,Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234	collagen, type XXI, alpha 1 precursor				ENSP00000244728		30-Mar									COSM3411216,COSM3411214,COSM3411215	30-Mar	.		ENST00000244728	Transcript			cell adhesion	collagen|cytoplasm	structural molecule activity	ENSG00000124749	g.chr6:56044496T>C	17025			MODERATE		-0.22	neutral	getma.org/?cm=msa&ty=f&p=COLA1_HUMAN&rb=37&re=207&var=T174A	getma.org/pdb.php?prot=COLA1_HUMAN&from=37&to=207&var=T174A	getma.org/?cm=var&var=hg19,6,56044496,T,C&fts=all	T174A	--	--	1																																		COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Missense_Mutation_p.T174A|COL21A1_uc003pcu.1_Missense_Mutation_p.T174A	1,1,1	1		benign(0.044)	p.T174A	NM_030820	NP_110447		tolerated(0.21)	1,1,1	COLA1_HUMAN	COL21A1	HGNC	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		A6PVD9_HUMAN		3	752	-	Lung NSC(77;0.0483)		UPI0000071DFE	174			VWFA.		SNV	COL21A1,missense_variant,p.Thr174Ala,ENST00000244728,NM_030820.3;COL21A1,missense_variant,p.Thr174Ala,ENST00000535941,;COL21A1,missense_variant,p.Thr174Ala,ENST00000370819,;COL21A1,downstream_gene_variant,,ENST00000370817,;	uc003pcs.2	c.520A>G	918/4339	3	3			c.520A>G						6	SNP	c.(520-522)ACA>GCA	1	1			ovary(2)	2	Broad	collagen, type XXI, alpha 1 precursor			56044496		0.398	ENSG00000124749	3617	g.chr6:56044496T>C	cell adhesion	collagen|cytoplasm	structural molecule activity							0.818355	KEEP	3	2	-1	34	39	3	2	-1	14.064491	34	39	0.071429	1	0	0	0	0	1	0	0	0	--	--		0	C			COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Missense_Mutation_p.T174A|COL21A1_uc003pcu.1_Missense_Mutation_p.T174A	116	GBM-08-0386-TP	p.T174A	T	GCATCTTCTGTTTCTGAACCA	NM_030820	NP_110447	56044496	Q96P44	COLA1_HUMAN	0	LUSC - Lung squamous cell carcinoma(124;0.181)		3	752	-	C	C	Lung NSC(77;0.0483)		Missense_Mutation	174			VWFA.			
COL22A1	169044	broad.mit.edu	GRCh37	8	139890128	139890128	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01	TCGA-06-0122-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303045.6:c.523G>A	p.Val175Met	p.V175M	ENST00000303045	NM_152888.1	175	Gtg/Atg	0			1			T	V/M	uc003yvd.2	protein_coding	YES	CCDS6376.1			523/4881									ovary(11)|pancreas(1)|skin(1)	13	c.(523-525)GTG>ATG			PROSITE_profiles:PS50234,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300	collagen, type XXII, alpha 1				ENSP00000303153		Mar-65									COSM1096580	Mar-65	.		ENST00000303045	Transcript			cell adhesion	collagen|cytoplasm	structural molecule activity	ENSG00000169436	g.chr8:139890128C>T	22989			MODERATE		3.405	medium	getma.org/?cm=msa&ty=f&p=COMA1_HUMAN&rb=38&re=213&var=V175M	getma.org/pdb.php?prot=COMA1_HUMAN&from=38&to=213&var=V175M	getma.org/?cm=var&var=hg19,8,139890128,C,T&fts=all	V175M	--	--	1				HNSCC(7;0.00092)																															1	1		unknown(0)	p.V175M	NM_152888	NP_690848			1	COMA1_HUMAN	COL22A1	HGNC	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)				3	970	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		UPI00001C1EA1	175			VWFA.		SNV	COL22A1,missense_variant,p.Val175Met,ENST00000303045,NM_152888.1;COL22A1,missense_variant,p.Val175Met,ENST00000435777,;COL22A1,downstream_gene_variant,,ENST00000484387,;	uc003yvd.2	c.523G>A	970/6346	1	1			c.523G>A						8	SNP	c.(523-525)GTG>ATG	16	16			ovary(11)|pancreas(1)|skin(1)	13	Broad	collagen, type XXII, alpha 1			139890128		0.667	ENSG00000169436	3618	g.chr8:139890128C>T	cell adhesion	collagen|cytoplasm	structural molecule activity							17.419711	KEEP	4	3	-1	11	7	4	3	-1	18.203471	11	7	0.304348	1	0	0	0	0	1	0	0	0	--	--	HNSCC(7;0.00092)	0	T				10	GBM-06-0122-TP	p.V175M	C	CCCACGCCCACGGCAAAGATG	NM_152888	NP_690848	139890128	Q8NFW1	COMA1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(115;0.0517)		3	970	-	T	T	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	175			VWFA.			
COL22A1	169044	broad.mit.edu	GRCh37	8	139856384	139856384	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01	TCGA-06-0185-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303045.6:c.676G>A	p.Val226Ile	p.V226I	ENST00000303045	NM_152888.1	226	Gtt/Att	0		T:0	1	T:0		T	V/I	uc003yvd.2	protein_coding	YES	CCDS6376.1			676/4881									ovary(11)|pancreas(1)|skin(1)	13	c.(676-678)GTT>ATT				collagen, type XXII, alpha 1		T:0.002		ENSP00000303153	T:0	Apr-65	7.41E-05			0.00104					rs184963131,COSM2150543	Apr-65	common_variant		ENST00000303045	Transcript		T:0.0004	cell adhesion	collagen|cytoplasm	structural molecule activity	ENSG00000169436	g.chr8:139856384C>T	22989			MODERATE		0.28	neutral	getma.org/?cm=msa&ty=f&p=COMA1_HUMAN&rb=184&re=260&var=V226I	getma.org/pdb.php?prot=COMA1_HUMAN&from=214&to=230&var=V226I	getma.org/?cm=var&var=hg19,8,139856384,C,T&fts=all	V226I	--	--	1				HNSCC(7;0.00092)																															0,1	1		unknown(0)	p.V226I	NM_152888	NP_690848	T:0		0,1	COMA1_HUMAN	COL22A1	HGNC	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)				4	1123	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		UPI00001C1EA1	226					SNV	COL22A1,missense_variant,p.Val226Ile,ENST00000303045,NM_152888.1;COL22A1,missense_variant,p.Val226Ile,ENST00000435777,;	uc003yvd.2	c.676G>A	1123/6346	2	2			c.676G>A						8	SNP	c.(676-678)GTT>ATT	35	35			ovary(11)|pancreas(1)|skin(1)	13	Broad	collagen, type XXII, alpha 1			139856384		0.463	ENSG00000169436	3618	g.chr8:139856384C>T	cell adhesion	collagen|cytoplasm	structural molecule activity							326.934361	KEEP	65	63	-1	99	74	65	63	-1	327.957202	99	74	0.43295	1	0	0	0	0	1	0	0	0	--	--	HNSCC(7;0.00092)	0	T				40	GBM-06-0185-TP	p.V226I	C	TCTACACGAACGCTAGGACAG	NM_152888	NP_690848	139856384	Q8NFW1	COMA1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(115;0.0517)		4	1123	-	T	T	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	226						
COL22A1	169044	broad.mit.edu	GRCh37	8	139606337	139606337	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0646-01	TCGA-06-0646-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303045.6:c.4538G>A	p.Arg1513Gln	p.R1513Q	ENST00000303045	NM_152888.1	1513	cGg/cAg	0			1			T	R/Q	uc003yvd.2	protein_coding	YES	CCDS6376.1			4538/4881								p.R1513Q(1)	ovary(11)|pancreas(1)|skin(1)	13	c.(4537-4539)CGG>CAG			hmmpanther:PTHR24023:SF379,hmmpanther:PTHR24023,Pfam_domain:PF01391	collagen, type XXII, alpha 1				ENSP00000303153		63/65	2.47E-05			0.000116		3.07E-05			rs200298766,COSM70249	63/65	.		ENST00000303045	Transcript			cell adhesion	collagen|cytoplasm	structural molecule activity	ENSG00000169436	g.chr8:139606337C>T	22989			MODERATE		0.405	neutral	getma.org/?cm=msa&ty=f&p=COMA1_HUMAN&rb=1494&re=1553&var=R1513Q	NA	getma.org/?cm=var&var=hg19,8,139606337,C,T&fts=all	R1513Q	--	--	1				HNSCC(7;0.00092)																														COL22A1_uc011ljo.1_Missense_Mutation_p.R793Q	0,1	1		unknown(0)	p.R1513Q	NM_152888	NP_690848			0,1	COMA1_HUMAN	COL22A1	HGNC	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)				63	4985	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		UPI00001C1EA1	1513			Pro-rich.|Gly-rich.|Collagen-like 15.		SNV	COL22A1,missense_variant,p.Arg1513Gln,ENST00000303045,NM_152888.1;COL22A1,missense_variant,p.Arg1493Gln,ENST00000435777,;COL22A1,non_coding_transcript_exon_variant,,ENST00000341807,;	uc003yvd.2	c.4538G>A	4985/6346	1	1			c.4538G>A						8	SNP	c.(4537-4539)CGG>CAG	2	2		p.R1513Q(1)	ovary(11)|pancreas(1)|skin(1)	13	Broad	collagen, type XXII, alpha 1			139606337		0.662	ENSG00000169436	3618	g.chr8:139606337C>T	cell adhesion	collagen|cytoplasm	structural molecule activity							147.671399	KEEP	25	28	-1	52	47	25	28	-1	150.100944	52	47	0.357664	1	0	0	0	0	1	0	0	0	--	--	HNSCC(7;0.00092)	0	T			COL22A1_uc011ljo.1_Missense_Mutation_p.R793Q	60	GBM-06-0646-TP	p.R1513Q	C	GGGGCCGGCCCGGCCTGGAAG	NM_152888	NP_690848	139606337	Q8NFW1	COMA1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(115;0.0517)		63	4985	-	T	T	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	1513			Pro-rich.|Gly-rich.|Collagen-like 15.			
COL22A1	169044	broad.mit.edu	GRCh37	8	139606377	139606377	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0686-01	TCGA-06-0686-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303045.6:c.4498G>T	p.Gly1500Trp	p.G1500W	ENST00000303045	NM_152888.1	1500	Ggg/Tgg	0			1			A	G/W	uc003yvd.2	protein_coding	YES	CCDS6376.1			4498/4881									ovary(11)|pancreas(1)|skin(1)	13	c.(4498-4500)GGG>TGG			Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF379,hmmpanther:PTHR24023,Pfam_domain:PF01391	collagen, type XXII, alpha 1				ENSP00000303153		63/65									COSM3412780	63/65	.		ENST00000303045	Transcript			cell adhesion	collagen|cytoplasm	structural molecule activity	ENSG00000169436	g.chr8:139606377C>A	22989			MODERATE		4.045	high	getma.org/?cm=msa&ty=f&p=COMA1_HUMAN&rb=1494&re=1553&var=G1500W	NA	getma.org/?cm=var&var=hg19,8,139606377,C,A&fts=all	G1500W	--	--	1				HNSCC(7;0.00092)																														COL22A1_uc011ljo.1_Missense_Mutation_p.G780W	1	1		unknown(0)	p.G1500W	NM_152888	NP_690848			1	COMA1_HUMAN	COL22A1	HGNC	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)				63	4945	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		UPI00001C1EA1	1500			Pro-rich.|Gly-rich.|Collagen-like 15.		SNV	COL22A1,missense_variant,p.Gly1500Trp,ENST00000303045,NM_152888.1;COL22A1,missense_variant,p.Gly1480Trp,ENST00000435777,;COL22A1,non_coding_transcript_exon_variant,,ENST00000341807,;	uc003yvd.2	c.4498G>T	4945/6346	2	2			c.4498G>T						8	SNP	c.(4498-4500)GGG>TGG	30	30			ovary(11)|pancreas(1)|skin(1)	13	Broad	collagen, type XXII, alpha 1			139606377		0.632	ENSG00000169436	3618	g.chr8:139606377C>A	cell adhesion	collagen|cytoplasm	structural molecule activity							-13.288663	KEEP	2	5	0.714285714	79	62	2	5	0.714285714	14.561783	79	62	0.05303	1	0	0	0	0	1	0	0	0	--	--	HNSCC(7;0.00092)	0	A			COL22A1_uc011ljo.1_Missense_Mutation_p.G780W	64	GBM-06-0686-TP	p.G1500W	C	CCTGGGGGCCCAGGTCTGCCT	NM_152888	NP_690848	139606377	Q8NFW1	COMA1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(115;0.0517)		63	4945	-	A	A	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	1500			Pro-rich.|Gly-rich.|Collagen-like 15.			
COL22A1	169044	broad.mit.edu	GRCh37	8	139791753	139791753	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs149163176	byFrequency;by1000genomes	TCGA-06-2567-01	TCGA-06-2567-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303045.6:c.1703G>A	p.Arg568Gln	p.R568Q	ENST00000303045	NM_152888.1	568	cGg/cAg	0	T:0.0084	T:0.0106	1	T:0.0029		T	R/Q	uc003yvd.2	protein_coding	YES	CCDS6376.1			1703/4881									ovary(11)|pancreas(1)|skin(1)	13	c.(1702-1704)CGG>CAG			hmmpanther:PTHR24023:SF379,hmmpanther:PTHR24023,Pfam_domain:PF01391,Pfam_domain:PF01391	collagen, type XXII, alpha 1		T:0	T:0.0002	ENSP00000303153	T:0	14/65	0.000997	0.011	0.000259			6.02E-05			rs149163176,COSM2153079	14/65	common_variant		ENST00000303045	Transcript		T:0.0032	cell adhesion	collagen|cytoplasm	structural molecule activity	ENSG00000169436	g.chr8:139791753C>T	22989			MODERATE		0.35	neutral	getma.org/?cm=msa&ty=f&p=COMA1_HUMAN&rb=562&re=630&var=R568Q	NA	getma.org/?cm=var&var=hg19,8,139791753,C,T&fts=all	R568Q	--	--	1				HNSCC(7;0.00092)																															0,1	1		unknown(0)	p.R568Q	NM_152888	NP_690848	T:0		0,1	COMA1_HUMAN	COL22A1	HGNC	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)				14	2150	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		UPI00001C1EA1	568			Pro-rich.|Gly-rich.|Collagen-like 3.		SNV	COL22A1,missense_variant,p.Arg568Gln,ENST00000303045,NM_152888.1;COL22A1,missense_variant,p.Arg568Gln,ENST00000435777,;COL22A1,missense_variant,p.Arg18Gln,ENST00000522546,;	uc003yvd.2	c.1703G>A	2150/6346	1	1			c.1703G>A						8	SNP	c.(1702-1704)CGG>CAG	16	16			ovary(11)|pancreas(1)|skin(1)	13	Broad	collagen, type XXII, alpha 1			139791753		0.592	ENSG00000169436	3618	g.chr8:139791753C>T	cell adhesion	collagen|cytoplasm	structural molecule activity							109.275338	KEEP	23	17	-1	45	42	23	17	-1	112.051945	45	42	0.330275	1	0	0	0	0	1	0	0	0	--	--	HNSCC(7;0.00092)	0	T				89	GBM-06-2567-TP	p.R568Q	C	AACACTCACCCGCATGCCGAC	NM_152888	NP_690848	139791753	Q8NFW1	COMA1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(115;0.0517)		14	2150	-	T	T	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	568			Pro-rich.|Gly-rich.|Collagen-like 3.			
COL23A1	91522	broad.mit.edu	GRCh37	5	177690250	177690250	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01	TCGA-06-0124-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000390654.3:c.598G>A	p.Asp200Asn	p.D200N	ENST00000390654	NM_173465.3	200	Gac/Aac	0	T:0		1			T	D/N	uc003mje.2	protein_coding	YES	CCDS4436.1			598/1623									central_nervous_system(1)|skin(1)	2	c.(598-600)GAC>AAC			Pfam_domain:PF01391,Pfam_domain:PF01391,hmmpanther:PTHR24023,Low_complexity_(Seg):seg	collagen, type XXIII, alpha 1			T:0.0001	ENSP00000375069		29-Sep	3.31E-05					6.07E-05			rs371953467,COSM2149258,COSM3410174	29-Sep	.		ENST00000390654	Transcript				collagen|integral to membrane|plasma membrane	protein binding	ENSG00000050767	g.chr5:177690250C>T	22990			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=CONA1_HUMAN&rb=196&re=257&var=D200N	NA	getma.org/?cm=var&var=hg19,5,177690250,C,T&fts=all	D200N	--	--	1																																		COL23A1_uc010jkt.2_Silent_p.A47A	0,1,1	1		unknown(0)	p.D200N	NM_173465	NP_775736		tolerated(0.32)	0,1,1	CONA1_HUMAN	COL23A1	HGNC	Q86Y22	CONA1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)			9	956	-	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	UPI0000062274	200			Extracellular (Potential).|Collagen-like 1.|Gly-rich.		SNV	COL23A1,missense_variant,p.Asp200Asn,ENST00000390654,NM_173465.3;COL23A1,missense_variant,p.Asp164Asn,ENST00000407622,;	uc003mje.2	c.598G>A	956/3061	2	2			c.598G>A						5	SNP	c.(598-600)GAC>AAC	33	33			central_nervous_system(1)|skin(1)	2	Broad	collagen, type XXIII, alpha 1			177690250		0.637	ENSG00000050767	3619	g.chr5:177690250C>T		collagen|integral to membrane|plasma membrane	protein binding							28.408903	KEEP	11	5	-1	41	22	11	5	-1	35.516337	41	22	0.184211	1	0	0	0	0	1	0	0	0	--	--		0	T			COL23A1_uc010jkt.2_Silent_p.A47A	11	GBM-06-0124-TP	p.D200N	C	TTCCCAGTGTCGCCAGGAGGG	NM_173465	NP_775736	177690250	Q86Y22	CONA1_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)	9	956	-	T	T	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Missense_Mutation	200			Extracellular (Potential).|Collagen-like 1.|Gly-rich.			
COL24A1	255631	broad.mit.edu	GRCh37	1	86289377	86289379	+	inframe_deletion	In_Frame_Del	DEL	TTG	TTG	-			TCGA-06-0213-01	TCGA-06-0213-01	TTG	TTG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370571.2:c.3724_3726del	p.Gln1242del	p.Q1242del	ENST00000370571	NM_152890.5	1242	CAA/-	0			1			-	Q/-	uc001dlj.2	protein_coding	YES	CCDS41353.1			3724-3726/5145									ovary(3)|central_nervous_system(1)|skin(1)	5	c.(3724-3726)CAAdel			Pfam_domain:PF01391,Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF360,Low_complexity_(Seg):seg	collagen, type XXIV, alpha 1 precursor				ENSP00000359603		44/60									COSM2150845	44/60	.		ENST00000370571	Transcript			cell adhesion	collagen	extracellular matrix structural constituent	ENSG00000171502	g.chr1:86289377_86289379delTTG	20821			MODERATE								--	--	1																																		COL24A1_uc001dli.2_In_Frame_Del_p.Q378del|COL24A1_uc010osd.1_In_Frame_Del_p.Q542del|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	1	1			p.Q1242del	NM_152890	NP_690850			1	COOA1_HUMAN	COL24A1	HGNC	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	E9PNK8_HUMAN		44	3766_3768	-			UPI000013E81F	1242			Collagen-like 13.		deletion	COL24A1,inframe_deletion,p.Gln1242del,ENST00000370571,NM_152890.5;COL24A1,inframe_deletion,p.Gln1242del,ENST00000436319,;COL24A1,3_prime_UTR_variant,,ENST00000426639,;	uc001dlj.2	c.3724_3726delCAA	4091-4093/6825	5	5			c.3724_3726delCAA						1	DEL	c.(3724-3726)CAAdel	16	16			ovary(3)|central_nervous_system(1)|skin(1)	5	Broad	collagen, type XXIV, alpha 1 precursor			86289379		0.34	ENSG00000171502	3620	g.chr1:86289377_86289379delTTG	cell adhesion	collagen	extracellular matrix structural constituent																				0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			COL24A1_uc001dli.2_In_Frame_Del_p.Q378del|COL24A1_uc010osd.1_In_Frame_Del_p.Q542del|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	49	GBM-06-0213-TP	p.Q1242del	TTG	CTGGGGGTCCTTGTTGTCCAGTG	NM_152890	NP_690850	86289377	Q17RW2	COOA1_HUMAN	0		all cancers(265;0.0627)|Epithelial(280;0.0689)	44	3766_3768	-	-	-			In_Frame_Del	1242			Collagen-like 13.			
COL24A1	255631	broad.mit.edu	GRCh37	1	86250051	86250051	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C			TCGA-06-0221-01	TCGA-06-0221-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370571.2:c.4060-2A>G		p.X1354_splice	ENST00000370571	NM_152890.5	1354		0			1			C		uc001dlj.2	protein_coding	YES	CCDS41353.1			4060/5145									ovary(3)|central_nervous_system(1)|skin(1)	5	c.e49-1				collagen, type XXIV, alpha 1 precursor				ENSP00000359603											COSM3401058		.		ENST00000370571	Transcript			cell adhesion	collagen	extracellular matrix structural constituent	ENSG00000171502	g.chr1:86250051T>C	20821			HIGH	48/59							--	--	1																																		COL24A1_uc001dli.2_Splice_Site_p.G490_splice|COL24A1_uc010osd.1_Splice_Site_p.G654_splice|COL24A1_uc001dlk.2_Splice_Site|COL24A1_uc010ose.1_Splice_Site|COL24A1_uc010osf.1_Splice_Site	1	1			p.G1354_splice	NM_152890	NP_690850			1	COOA1_HUMAN	COL24A1	HGNC	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	E9PNK8_HUMAN		49	4102	-			UPI000013E81F						SNV	COL24A1,splice_acceptor_variant,,ENST00000370571,NM_152890.5;COL24A1,splice_acceptor_variant,,ENST00000436319,;COL24A1,splice_acceptor_variant,,ENST00000426639,;	uc001dlj.2	c.4060_splice	-/6825	5	4			c.4060_splice						1	SNP	c.e49-1	33	33			ovary(3)|central_nervous_system(1)|skin(1)	5	Broad	collagen, type XXIV, alpha 1 precursor			86250051		0.453	ENSG00000171502	3620	g.chr1:86250051T>C	cell adhesion	collagen	extracellular matrix structural constituent							-29.096485	KEEP	3	0	-1	72	74	3	0	-1	7.319023	72	74	0.021127	1	0	0	0	0	0	0	0	1	--	--		0	C			COL24A1_uc001dli.2_Splice_Site_p.G490_splice|COL24A1_uc010osd.1_Splice_Site_p.G654_splice|COL24A1_uc001dlk.2_Splice_Site|COL24A1_uc010ose.1_Splice_Site|COL24A1_uc010osf.1_Splice_Site	53	GBM-06-0221-TP	p.G1354_splice	T	TTGTTCACCCTATGGGTAGAA	NM_152890	NP_690850	86250051	Q17RW2	COOA1_HUMAN	0		all cancers(265;0.0627)|Epithelial(280;0.0689)	49	4102	-	C	C			Splice_Site							
COL24A1	255631	broad.mit.edu	GRCh37	1	86340334	86340334	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370571.2:c.3136C>T	p.Arg1046Trp	p.R1046W	ENST00000370571	NM_152890.5	1046	Cgg/Tgg	0			1			A	R/W	uc001dlj.2	protein_coding	YES	CCDS41353.1			3136/5145									ovary(3)|central_nervous_system(1)|skin(1)	5	c.(3136-3138)CGG>TGG			hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF360	collagen, type XXIV, alpha 1 precursor				ENSP00000359603		35/60									COSM1344625	35/60	.		ENST00000370571	Transcript			cell adhesion	collagen	extracellular matrix structural constituent	ENSG00000171502	g.chr1:86340334G>A	20821			MODERATE		3.4	medium	getma.org/?cm=msa&ty=f&p=COOA1_HUMAN&rb=1011&re=1052&var=R1046W	NA	getma.org/?cm=var&var=hg19,1,86340334,G,A&fts=all	R1046W	--	--	1																																		COL24A1_uc001dli.2_Missense_Mutation_p.R182W|COL24A1_uc010osd.1_Missense_Mutation_p.R346W|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	1	1		probably_damaging(0.977)	p.R1046W	NM_152890	NP_690850		deleterious(0)	1	COOA1_HUMAN	COL24A1	HGNC	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	E9PNK8_HUMAN		35	3178	-			UPI000013E81F	1046			Collagen-like 9.		SNV	COL24A1,missense_variant,p.Arg1046Trp,ENST00000370571,NM_152890.5;COL24A1,missense_variant,p.Arg1046Trp,ENST00000436319,;COL24A1,splice_region_variant,,ENST00000426639,;	uc001dlj.2	c.3136C>T	3503/6825	2	2			c.3136C>T						1	SNP	c.(3136-3138)CGG>TGG	47	47			ovary(3)|central_nervous_system(1)|skin(1)	5	Broad	collagen, type XXIV, alpha 1 precursor			86340334		0.408	ENSG00000171502	3620	g.chr1:86340334G>A	cell adhesion	collagen	extracellular matrix structural constituent							22.856536	KEEP	7	9	-1	35	31	7	9	-1	30.220082	35	31	0.169014	1	0	0	0	0	1	0	0	0	--	--		0	A			COL24A1_uc001dli.2_Missense_Mutation_p.R182W|COL24A1_uc010osd.1_Missense_Mutation_p.R346W|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	58	GBM-06-0644-TP	p.R1046W	G	GCACTCACCCGTAAACCTGGT	NM_152890	NP_690850	86340334	Q17RW2	COOA1_HUMAN	0		all cancers(265;0.0627)|Epithelial(280;0.0689)	35	3178	-	A	A			Missense_Mutation	1046			Collagen-like 9.			
COL24A1	0	broad.mit.edu	GRCh37	1	86377068	86377068	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370571.2:c.2611G>A	p.Glu871Lys	p.E871K	ENST00000370571	NM_152890.5	871	Gaa/Aaa	0			1			T	E/K	uc001dlj.2	protein_coding	YES	CCDS41353.1			2611/5145									ovary(3)|central_nervous_system(1)|skin(1)	5	c.(2611-2613)GAA>AAA			Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF360	collagen, type XXIV, alpha 1 precursor				ENSP00000359603		25/60	1.66E-05	0.000205							rs774016057,COSM1344629	25/60	.		ENST00000370571	Transcript			cell adhesion	collagen	extracellular matrix structural constituent	ENSG00000171502	g.chr1:86377068C>T	20821			MODERATE		1.605	low	getma.org/?cm=msa&ty=f&p=COOA1_HUMAN&rb=841&re=919&var=E871K	getma.org/pdb.php?prot=COOA1_HUMAN&from=841&to=919&var=E871K	getma.org/?cm=var&var=hg19,1,86377068,C,T&fts=all	E871K	--	--	1																																		COL24A1_uc001dli.2_Missense_Mutation_p.E7K|COL24A1_uc010osd.1_Missense_Mutation_p.E171K|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	0,1	1		probably_damaging(0.99)	p.E871K	NM_152890	NP_690850		deleterious(0.01)	0,1	COOA1_HUMAN	COL24A1	HGNC	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	E9PNK8_HUMAN		25	2653	-			UPI000013E81F	871			Collagen-like 6.		SNV	COL24A1,missense_variant,p.Glu871Lys,ENST00000370571,NM_152890.5;COL24A1,missense_variant,p.Glu871Lys,ENST00000436319,;COL24A1,3_prime_UTR_variant,,ENST00000426639,;	uc001dlj.2	c.2611G>A	2978/6825	2	2			c.2611G>A						1	SNP	c.(2611-2613)GAA>AAA	20	20			ovary(3)|central_nervous_system(1)|skin(1)	5	Broad	collagen, type XXIV, alpha 1 precursor			86377068		0.308	ENSG00000171502	3620	g.chr1:86377068C>T	cell adhesion	collagen	extracellular matrix structural constituent							48.393568	KEEP	10	12	-1	27	29	10	12	-1	51.37077	27	29	0.279412	1	0	0	0	0	1	0	0	0	--	--		0	T			COL24A1_uc001dli.2_Missense_Mutation_p.E7K|COL24A1_uc010osd.1_Missense_Mutation_p.E171K|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	160	GBM-19-1790-TP	p.E871K	C	ATTACCTTTTCGCCAATGCTT	NM_152890	NP_690850	86377068	Q17RW2	COOA1_HUMAN	0		all cancers(265;0.0627)|Epithelial(280;0.0689)	25	2653	-	T	T			Missense_Mutation	871			Collagen-like 6.			
COL24A1	255631		GRCh37	1	86282552	86282552	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000370571.2:c.3870del	p.Gly1291AlafsTer47	p.G1291Afs*47	ENST00000370571	NM_152890.5	1290	aaA/aa	0																																																																																																																																																																																																																																												
COL25A1	84570	broad.mit.edu	GRCh37	4	109780829	109780829	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0211-01	TCGA-06-0211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399132.1:c.1303C>G	p.Leu435Val	p.L435V	ENST00000399132	NM_198721.2	435	Ctc/Gtc	0			1			C	L/V	uc003hze.1	protein_coding	YES	CCDS43258.1			1303/1965									ovary(2)	2	c.(1303-1305)CTC>GTC			hmmpanther:PTHR24023:SF412,hmmpanther:PTHR24023	collagen, type XXV, alpha 1 isoform 1				ENSP00000382083		24/38									COSM2150750,COSM2150751	24/38	.		ENST00000399132	Transcript	1			collagen|extracellular space	beta-amyloid binding|heparin binding	ENSG00000188517	g.chr4:109780829G>C	18603			MODERATE		0.295	neutral	getma.org/?cm=msa&ty=f&p=COPA1_HUMAN&rb=398&re=476&var=L435V	NA	getma.org/?cm=var&var=hg19,4,109780829,G,C&fts=all	L435V	--	--	1																																		COL25A1_uc003hzg.2_Missense_Mutation_p.L435V|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Missense_Mutation_p.L201V	1,1	1		benign(0.212)	p.L435V	NM_198721	NP_942014		deleterious(0.03)	1,1	COPA1_HUMAN	COL25A1	HGNC	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	D6R8Y2_HUMAN		23	1834	-		Hepatocellular(203;0.217)	UPI0000225CD2	435			Extracellular (Potential).		SNV	COL25A1,missense_variant,p.Leu435Val,ENST00000399132,NM_198721.2;COL25A1,missense_variant,p.Leu435Val,ENST00000399126,NM_032518.2;COL25A1,missense_variant,p.Leu416Val,ENST00000399127,NM_001256074.1;COL25A1,missense_variant,p.Leu363Val,ENST00000494183,;	uc003hze.1	c.1303C>G	1834/2724	3	3			c.1303C>G						4	SNP	c.(1303-1305)CTC>GTC	63	63			ovary(2)	2	Broad	collagen, type XXV, alpha 1 isoform 1			109780829		0.493	ENSG00000188517	3621	g.chr4:109780829G>C		collagen|extracellular space	beta-amyloid binding|heparin binding							51.050133	KEEP	11	15	-1	31	32	11	15	-1	53.425051	31	32	0.288136	1	0	0	0	0	1	0	0	0	--	--		0	C			COL25A1_uc003hzg.2_Missense_Mutation_p.L435V|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Missense_Mutation_p.L201V	48	GBM-06-0211-TP	p.L435V	G	GCTTCGTGGAGGTTGCCGTTG	NM_198721	NP_942014	109780829	Q9BXS0	COPA1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	23	1834	-	C	C		Hepatocellular(203;0.217)	Missense_Mutation	435			Extracellular (Potential).			
COL26A1	0	broad.mit.edu	GRCh37	7	101063350	101063350	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1837-01	TCGA-27-1837-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313669.7:c.251G>A	p.Arg84Gln	p.R84Q	ENST00000313669	NM_001278563.1	84	cGg/cAg	0			1			A	R/Q	uc010lhy.1	protein_coding	YES				251/1323									ovary(1)	1	c.(250-252)CGG>CAG			Pfam_domain:PF07546,PROSITE_profiles:PS51041,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF95	EMI domain containing 2				ENSP00000318234		14-Feb	4.96E-05				0.000305	4.62E-05		6.06E-05	rs772822189,COSM3411413	14-Feb	.		ENST00000313669	Transcript				collagen		ENSG00000160963	g.chr7:101063350G>A	18038			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=EMID2_HUMAN&rb=52&re=125&var=R84Q	NA	getma.org/?cm=var&var=hg19,7,101063350,G,A&fts=all	R84Q	--	--	1																																		EMID2_uc003uyo.1_Missense_Mutation_p.R84Q	0,1	1		probably_damaging(0.995)	p.R84Q	NM_133457	NP_597714		deleterious(0)	0,1		COL26A1	HGNC	Q96A83	EMID2_HUMAN			C9JPW4_HUMAN		2	443	+	Lung NSC(181;0.215)		UPI00004575C9	84			EMI.		SNV	COL26A1,missense_variant,p.Arg84Gln,ENST00000313669,NM_001278563.1,NM_133457.3;COL26A1,missense_variant,p.Arg84Gln,ENST00000397927,;COL26A1,missense_variant,p.Arg84Gln,ENST00000528707,;	uc010lhy.1	c.251G>A	443/3007	1	1			c.251G>A						7	SNP	c.(250-252)CGG>CAG	56	56			ovary(1)	1	Broad	EMI domain containing 2			101063350		0.647	ENSG00000160963	5007	g.chr7:101063350G>A		collagen								23.837052	KEEP	6	10	-1	14	24	6	10	-1	24.839391	14	24	0.3125	1	0	0	0	0	1	0	0	0	--	--		0	A			EMID2_uc003uyo.1_Missense_Mutation_p.R84Q	196	GBM-27-1837-TP	p.R84Q	G	CAGAGCTGCCGGTGGCCGGGG	NM_133457	NP_597714	101063350	Q96A83	EMID2_HUMAN	0			2	443	+	A	A	Lung NSC(181;0.215)		Missense_Mutation	84			EMI.			
COL27A1	85301	broad.mit.edu	GRCh37	9	117020836	117020836	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0876-01	TCGA-06-0876-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356083.3:c.3157C>T	p.Arg1053Ter	p.R1053*	ENST00000356083	NM_032888.2	1053	Cga/Tga	0			1			T	R/*	uc011lxl.1	protein_coding	YES	CCDS6802.1			3157/5583									ovary(3)|skin(1)	4	c.(3157-3159)CGA>TGA			hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF362,Low_complexity_(Seg):seg	collagen, type XXVII, alpha 1 precursor				ENSP00000348385		28/61									COSM201893	28/61	.		ENST00000356083	Transcript			cell adhesion		extracellular matrix structural constituent	ENSG00000196739	g.chr9:117020836C>T	22986			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,9,117020836,C,T&fts=all	R1053*	--	--	1																																		COL27A1_uc004bii.2_RNA	1	1			p.R1053*	NM_032888	NP_116277			1	CORA1_HUMAN	COL27A1	HGNC	Q8IZC6	CORA1_HUMAN					28	3157	+			UPI0000062271	1053			Pro-rich.|Collagen-like 7.|Triple-helical region.		SNV	COL27A1,stop_gained,p.Arg1053Ter,ENST00000356083,NM_032888.2;COL27A1,3_prime_UTR_variant,,ENST00000494090,;	uc011lxl.1	c.3157C>T	3548/7790	5	1			c.3157C>T						9	SNP	c.(3157-3159)CGA>TGA	2	2			ovary(3)|skin(1)	4	Broad	collagen, type XXVII, alpha 1 precursor			117020836		0.622	ENSG00000196739	3622	g.chr9:117020836C>T	cell adhesion		extracellular matrix structural constituent							52.40008	KEEP	16	6	-1	28	14	16	6	-1	53.805285	28	14	0.333333	1	0	0	0	0	0	1	0	0	--	--		0	T			COL27A1_uc004bii.2_RNA	72	GBM-06-0876-TP	p.R1053*	C	TCCAGGATCTCGAGGCCCACC	NM_032888	NP_116277	117020836	Q8IZC6	CORA1_HUMAN	0			28	3157	+	T	T			Nonsense_Mutation	1053			Pro-rich.|Collagen-like 7.|Triple-helical region.			
COL27A1	0	broad.mit.edu	GRCh37	9	117014903	117014903	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs141446597		TCGA-28-2502-01	TCGA-28-2502-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356083.3:c.3064G>A	p.Val1022Met	p.V1022M	ENST00000356083	NM_032888.2	1022	Gtg/Atg	0	A:0	A:0	1	A:0.0014		A	V/M	uc011lxl.1	protein_coding	YES	CCDS6802.1			3064/5583									ovary(3)|skin(1)	4	c.(3064-3066)GTG>ATG			hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF362,Low_complexity_(Seg):seg	collagen, type XXVII, alpha 1 precursor		A:0	A:0.0003	ENSP00000348385	A:0	26/61	0.000148	9.62E-05	0.000173			0.000135		0.000363	rs141446597,COSM1104356	26/61	.		ENST00000356083	Transcript		A:0.0002	cell adhesion		extracellular matrix structural constituent	ENSG00000196739	g.chr9:117014903G>A	22986			MODERATE		0.65	neutral	getma.org/?cm=msa&ty=f&p=CORA1_HUMAN&rb=1003&re=1062&var=V1022M	NA	getma.org/?cm=var&var=hg19,9,117014903,G,A&fts=all	V1022M	--	--	1																																		COL27A1_uc004bii.2_RNA	0,1	1		unknown(0)	p.V1022M	NM_032888	NP_116277	A:0		0,1	CORA1_HUMAN	COL27A1	HGNC	Q8IZC6	CORA1_HUMAN					26	3064	+			UPI0000062271	1022			Pro-rich.|Collagen-like 7.|Triple-helical region.		SNV	COL27A1,missense_variant,p.Val1022Met,ENST00000356083,NM_032888.2;COL27A1,3_prime_UTR_variant,,ENST00000494090,;	uc011lxl.1	c.3064G>A	3455/7790	2	2			c.3064G>A						9	SNP	c.(3064-3066)GTG>ATG	45	45			ovary(3)|skin(1)	4	Broad	collagen, type XXVII, alpha 1 precursor			117014903		0.607	ENSG00000196739	3622	g.chr9:117014903G>A	cell adhesion		extracellular matrix structural constituent							115.595475	KEEP	27	32	-1	100	111	27	32	-1	131.352545	100	111	0.22467	1	0	0	0	0	1	0	0	0	--	--		0	A			COL27A1_uc004bii.2_RNA	210	GBM-28-2502-TP	p.V1022M	G	ACCCCCAGGCGTGCCTGGACC	NM_032888	NP_116277	117014903	Q8IZC6	CORA1_HUMAN	0			26	3064	+	A	A			Missense_Mutation	1022			Pro-rich.|Collagen-like 7.|Triple-helical region.			
COL28A1	340267	broad.mit.edu	GRCh37	7	7412882	7412882	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0745-01	TCGA-06-0745-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399429.3:c.2655C>T	p.Asn885=	p.N885=	ENST00000399429	NM_001037763.2	885	aaC/aaT	0	A:0		1			A	N	uc003src.1	protein_coding	YES	CCDS43553.1			2655/3378									skin(3)	3	c.(2653-2655)AAC>AAT			PROSITE_profiles:PS50234,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF375,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300	collagen, type XXVIII precursor			A:0.0001	ENSP00000382356		32/35	3.31E-05					5.99E-05			rs368864863,COSM2151729	32/35	.		ENST00000399429	Transcript			cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	ENSG00000215018	g.chr7:7412882G>A	22442			LOW								--	--	1																																		COL28A1_uc011jxe.1_Silent_p.N568N	0,1	1			p.N885N	NM_001037763	NP_001032852			0,1	COSA1_HUMAN	COL28A1	HGNC	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	H7C3P2_HUMAN,H7BZU0_HUMAN		32	2772	-		Ovarian(82;0.0789)	UPI000155D64E	885			VWFA 2.		SNV	COL28A1,synonymous_variant,p.=,ENST00000399429,NM_001037763.2;COL28A1,upstream_gene_variant,,ENST00000430711,;	uc003src.1	c.2655C>T	2796/4277	2	2			c.2655C>T						7	SNP	c.(2653-2655)AAC>AAT	36	36			skin(3)	3	Broad	collagen, type XXVIII precursor			7412882		0.488	ENSG00000215018	3623	g.chr7:7412882G>A	cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity							65.42812	KEEP	27	16	-1	86	44	27	16	-1	75.148139	86	44	0.215385	1	0	0	0	0	0	0	1	0	--	--		0	A			COL28A1_uc011jxe.1_Silent_p.N568N	67	GBM-06-0745-TP	p.N885N	G	CAAACATGTCGTTGGCTGCTT	NM_001037763	NP_001032852	7412882	Q2UY09	COSA1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	32	2772	-	A	A		Ovarian(82;0.0789)	Silent	885			VWFA 2.			
COL28A1	0	broad.mit.edu	GRCh37	7	7483281	7483281	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-3653-01	TCGA-12-3653-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399429.3:c.1585G>A	p.Glu529Lys	p.E529K	ENST00000399429	NM_001037763.2	529	Gaa/Aaa	0			1			T	E/K	uc003src.1	protein_coding	YES	CCDS43553.1			1585/3378									skin(3)	3	c.(1585-1587)GAA>AAA			Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF375,Pfam_domain:PF01391	collagen, type XXVIII precursor				ENSP00000382356		20/35	2.48E-05			0.000348					rs768670774,COSM3412291	20/35	.		ENST00000399429	Transcript			cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	ENSG00000215018	g.chr7:7483281C>T	22442			MODERATE		1.31	low	getma.org/?cm=msa&ty=f&p=COSA1_HUMAN&rb=474&re=544&var=E529K	NA	getma.org/?cm=var&var=hg19,7,7483281,C,T&fts=all	E529K	--	--	1																																		COL28A1_uc011jxe.1_Missense_Mutation_p.E212K|COL28A1_uc003srd.2_Missense_Mutation_p.E84K	0,1	1		probably_damaging(0.996)	p.E529K	NM_001037763	NP_001032852		deleterious(0.01)	0,1	COSA1_HUMAN	COL28A1	HGNC	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	H7C3P2_HUMAN,H7BZU0_HUMAN		20	1702	-		Ovarian(82;0.0789)	UPI000155D64E	529			Collagen-like 4.		SNV	COL28A1,missense_variant,p.Glu529Lys,ENST00000399429,NM_001037763.2;COL28A1,3_prime_UTR_variant,,ENST00000444268,;	uc003src.1	c.1585G>A	1726/4277	1	1			c.1585G>A						7	SNP	c.(1585-1587)GAA>AAA	1	1			skin(3)	3	Broad	collagen, type XXVIII precursor			7483281		0.517	ENSG00000215018	3623	g.chr7:7483281C>T	cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity							161.981231	KEEP	30	31	-1	70	70	30	31	-1	168.267851	70	70	0.301676	1	0	0	0	0	1	0	0	0	--	--		0	T			COL28A1_uc011jxe.1_Missense_Mutation_p.E212K|COL28A1_uc003srd.2_Missense_Mutation_p.E84K	128	GBM-12-3653-TP	p.E529K	C	AGCCCCGCTTCTCCCTAGAGA	NM_001037763	NP_001032852	7483281	Q2UY09	COSA1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	20	1702	-	T	T		Ovarian(82;0.0789)	Missense_Mutation	529			Collagen-like 4.			
COL28A1	340267		GRCh37	7	7412801	7412801	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000399429.3:c.2736A>G	p.Lys912=	p.K912=	ENST00000399429	NM_001037763.2	912	aaA/aaG	0																																																																																																																																																																																																																																												
COL2A1	0	broad.mit.edu	GRCh37	12	48371798	48371798	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs145684327		TCGA-87-5896-01	TCGA-87-5896-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380518.3:c.3106C>T	p.Arg1036Ter	p.R1036*	ENST00000380518	NM_033150.2	1036	Cga/Tga	0			1			A	R/*	uc001rqu.2	protein_coding	YES	CCDS41778.1			3106/4464						pathogenic			ovary(1)|skin(1)	2	c.(3106-3108)CGA>TGA			hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF58	collagen, type II, alpha 1 isoform 1 precursor	Collagenase(DB00048)			ENSP00000369889		44/54	8.24E-06					1.58E-05			rs748459670,COSM2068969,COSM2068968	44/54	.		ENST00000380518	Transcript	1		axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	ENSG00000139219	g.chr12:48371798G>A	2200			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,12,48371798,G,A&fts=all	R1036*	--	--	1																																		COL2A1_uc001rqt.2_5'Flank|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Nonsense_Mutation_p.R967*	1,1,1	1			p.R1036*	NM_001844	NP_001835			0,1,1	CO2A1_HUMAN	COL2A1	HGNC	P02458	CO2A1_HUMAN					44	3287	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	UPI0000D79713	1036			Triple-helical region.		SNV	COL2A1,stop_gained,p.Arg1036Ter,ENST00000380518,NM_033150.2,NM_001844.4;COL2A1,stop_gained,p.Arg967Ter,ENST00000337299,;COL2A1,non_coding_transcript_exon_variant,,ENST00000493991,;COL2A1,upstream_gene_variant,,ENST00000546974,;COL2A1,downstream_gene_variant,,ENST00000483376,;	uc001rqu.2	c.3106C>T	3271/5071	5	2			c.3106C>T						12	SNP	c.(3106-3108)CGA>TGA	44	44			ovary(1)|skin(1)	2	Broad	collagen, type II, alpha 1 isoform 1 precursor		Collagenase(DB00048)	48371798		0.662	ENSG00000139219	3624	g.chr12:48371798G>A	axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding							18.615833	KEEP	2	5	-1	4	8	2	5	-1	18.732615	4	8	0.411765	1	0	0	0	0	0	1	0	0	--	--		0	A			COL2A1_uc001rqt.2_5'Flank|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Nonsense_Mutation_p.R967*	291	GBM-87-5896-TP	p.R1036*	G	CTCACCTCTCGTCCAGGTTCA	NM_001844	NP_001835	48371798	P02458	CO2A1_HUMAN	0			44	3287	-	A	A		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	Nonsense_Mutation	1036			Triple-helical region.			
COL3A1	0	broad.mit.edu	GRCh37	2	189858803	189858803	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01	TCGA-16-0846-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304636.3:c.1189G>A	p.Glu397Lys	p.E397K	ENST00000304636	NM_000090.3	397	Gaa/Aaa	0		A:0.0008	1	A:0		A	E/K	uc002uqj.1	protein_coding	YES	CCDS2297.1			1189/4401									central_nervous_system(7)|ovary(4)|large_intestine(2)	13	c.(1189-1191)GAA>AAA			Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF415	collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)	A:0		ENSP00000304408	A:0	17/51	1.65E-05	9.65E-05				1.50E-05			rs187907868,COSM2711897,COSM3407404	17/51	.		ENST00000304636	Transcript	1	A:0.0002	axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	ENSG00000168542	g.chr2:189858803G>A	2201			MODERATE		1.41	low	getma.org/?cm=msa&ty=f&p=CO3A1_HUMAN&rb=354&re=413&var=E397K	NA	getma.org/?cm=var&var=hg19,2,189858803,G,A&fts=all	E397K	--	--	1																																		COL3A1_uc010frw.1_RNA	0,1,1	1		unknown(0)	p.E397K	NM_000090	NP_000081	A:0		0,1,1	CO3A1_HUMAN	COL3A1	HGNC	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Q6LBY7_HUMAN,D2JYH5_HUMAN		17	1306	+			UPI0000456EBA	397			Triple-helical region.		SNV	COL3A1,missense_variant,p.Glu397Lys,ENST00000304636,NM_000090.3;COL3A1,missense_variant,p.Glu397Lys,ENST00000317840,;COL3A1,missense_variant,p.Glu64Lys,ENST00000450867,;	uc002uqj.1	c.1189G>A	1359/5543	1	1			c.1189G>A						2	SNP	c.(1189-1191)GAA>AAA	54	54			central_nervous_system(7)|ovary(4)|large_intestine(2)	13	Broad	collagen type III alpha 1 preproprotein		Collagenase(DB00048)|Palifermin(DB00039)	189858803		0.373	ENSG00000168542	3625	g.chr2:189858803G>A	axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			1079			1079	124.885536	KEEP	36	11	-1	25	18	36	11	-1	124.885536	25	18	0.5	1	0	0	0	0	1	0	0	0	--	--		0	A			COL3A1_uc010frw.1_RNA	155	GBM-16-0846-TP	p.E397K	G	TGGTAAAGGCGAAATGGTAAG	NM_000090	NP_000081	189858803	P02461	CO3A1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		17	1306	+	A	A			Missense_Mutation	397			Triple-helical region.			
COL3A1	0	broad.mit.edu	GRCh37	2	189851838	189851838	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-19-2623-01	TCGA-19-2623-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304636.3:c.501A>G	p.Gly167=	p.G167=	ENST00000304636	NM_000090.3	167	ggA/ggG	0			1			G	G	uc002uqj.1	protein_coding	YES	CCDS2297.1			501/4401									central_nervous_system(7)|ovary(4)|large_intestine(2)	13	c.(499-501)GGA>GGG			Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF415	collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)			ENSP00000304408		May-51									COSM3748112,COSM3748113	May-51	.		ENST00000304636	Transcript	1		axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	ENSG00000168542	g.chr2:189851838A>G	2201			LOW								--	--	1																																			1,1	1			p.G167G	NM_000090	NP_000081			1,1	CO3A1_HUMAN	COL3A1	HGNC	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Q6LBY7_HUMAN,D2JYH5_HUMAN		5	618	+			UPI0000456EBA	167			Nonhelical region (N-terminal).		SNV	COL3A1,synonymous_variant,p.=,ENST00000304636,NM_000090.3;COL3A1,synonymous_variant,p.=,ENST00000317840,;COL3A1,upstream_gene_variant,,ENST00000450867,;COL3A1,downstream_gene_variant,,ENST00000470167,;	uc002uqj.1	c.501A>G	671/5543	3	3			c.501A>G						2	SNP	c.(499-501)GGA>GGG	16	16			central_nervous_system(7)|ovary(4)|large_intestine(2)	13	Broad	collagen type III alpha 1 preproprotein		Collagenase(DB00048)|Palifermin(DB00039)	189851838		0.403	ENSG00000168542	3625	g.chr2:189851838A>G	axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			1079			1079	-21.274634	KEEP	3	1	-1	62	63	3	1	-1	6.434311	62	63	0.026786	1	0	0	0	0	0	0	1	0	--	--		0	G				163	GBM-19-2623-TP	p.G167G	A	TAGCAGTAGGAGGACTCGCAG	NM_000090	NP_000081	189851838	P02461	CO3A1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		5	618	+	G	G			Silent	167			Nonhelical region (N-terminal).			
COL3A1	0	broad.mit.edu	GRCh37	2	189864035	189864035	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-2623-01	TCGA-19-2623-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304636.3:c.2047C>A	p.Arg683Ser	p.R683S	ENST00000304636	NM_000090.3	683	Cgt/Agt	0			1			A	R/S	uc002uqj.1	protein_coding	YES	CCDS2297.1			2047/4401									central_nervous_system(7)|ovary(4)|large_intestine(2)	13	c.(2047-2049)CGT>AGT			Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF415	collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)			ENSP00000304408		30/51									COSM3407406,COSM3407407	30/51	.		ENST00000304636	Transcript	1		axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	ENSG00000168542	g.chr2:189864035C>A	2201			MODERATE		1.515	low	getma.org/?cm=msa&ty=f&p=CO3A1_HUMAN&rb=654&re=853&var=R683S	NA	getma.org/?cm=var&var=hg19,2,189864035,C,A&fts=all	R683S	--	--	1																																			1,1	1		unknown(0)	p.R683S	NM_000090	NP_000081			1,1	CO3A1_HUMAN	COL3A1	HGNC	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Q6LBY7_HUMAN,D2JYH5_HUMAN		30	2164	+			UPI0000456EBA	683			Triple-helical region.		SNV	COL3A1,missense_variant,p.Arg683Ser,ENST00000304636,NM_000090.3;COL3A1,missense_variant,p.Arg683Ser,ENST00000317840,;COL3A1,upstream_gene_variant,,ENST00000467886,;	uc002uqj.1	c.2047C>A	2217/5543	2	2			c.2047C>A						2	SNP	c.(2047-2049)CGT>AGT	17	17			central_nervous_system(7)|ovary(4)|large_intestine(2)	13	Broad	collagen type III alpha 1 preproprotein		Collagenase(DB00048)|Palifermin(DB00039)	189864035		0.493	ENSG00000168542	3625	g.chr2:189864035C>A	axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			1079			1079	6.112188	KEEP	2	1	0.333333333	12	14	2	1	0.333333333	8.460382	12	14	0.15	1	0	0	0	0	1	0	0	0	--	--		0	A				163	GBM-19-2623-TP	p.R683S	C	CCCTGGTGAACGTGGACCTCC	NM_000090	NP_000081	189864035	P02461	CO3A1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		30	2164	+	A	A			Missense_Mutation	683			Triple-helical region.			
COL3A1	0	broad.mit.edu	GRCh37	2	189867049	189867049	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304636.3:c.2417C>G	p.Pro806Arg	p.P806R	ENST00000304636	NM_000090.3	806	cCa/cGa	0			1			G	P/R	uc002uqj.1	protein_coding	YES	CCDS2297.1			2417/4401									central_nervous_system(7)|ovary(4)|large_intestine(2)	13	c.(2416-2418)CCA>CGA			Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF415	collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)			ENSP00000304408		35/51									COSM3407408,COSM3407409	35/51	.		ENST00000304636	Transcript	1		axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	ENSG00000168542	g.chr2:189867049C>G	2201			MODERATE		0.13	neutral	getma.org/?cm=msa&ty=f&p=CO3A1_HUMAN&rb=654&re=853&var=P806R	getma.org/pdb.php?prot=CO3A1_HUMAN&from=654&to=853&var=P806R	getma.org/?cm=var&var=hg19,2,189867049,C,G&fts=all	P806R	--	--	1																																			1,1	1		unknown(0)	p.P806R	NM_000090	NP_000081			1,1	CO3A1_HUMAN	COL3A1	HGNC	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Q6LBY7_HUMAN,D2JYH5_HUMAN		35	2534	+			UPI0000456EBA	806			Triple-helical region.		SNV	COL3A1,missense_variant,p.Pro806Arg,ENST00000304636,NM_000090.3;COL3A1,missense_variant,p.Pro806Arg,ENST00000317840,;COL3A1,upstream_gene_variant,,ENST00000467886,;	uc002uqj.1	c.2417C>G	2587/5543	3	3			c.2417C>G						2	SNP	c.(2416-2418)CCA>CGA	10	10			central_nervous_system(7)|ovary(4)|large_intestine(2)	13	Broad	collagen type III alpha 1 preproprotein		Collagenase(DB00048)|Palifermin(DB00039)	189867049		0.438	ENSG00000168542	3625	g.chr2:189867049C>G	axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			1079			1079	-18.439402	KEEP	0	3	-1	57	62	0	3	-1	6.936993	57	62	0.028846	1	0	0	0	0	1	0	0	0	--	--		0	G				229	GBM-32-1977-TP	p.P806R	C	ACTGGCCCTCCAGGACCTGCT	NM_000090	NP_000081	189867049	P02461	CO3A1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		35	2534	+	G	G			Missense_Mutation	806			Triple-helical region.			
COL3A1	1281		GRCh37	2	189859008	189859008	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000304636.3:c.1243C>T	p.Pro415Ser	p.P415S	ENST00000304636	NM_000090.3	415	Cct/Tct	0																																																																																																																																																																																																																																												
COL4A1	1282	broad.mit.edu	GRCh37	13	110895031	110895031	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0157-01	TCGA-06-0157-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375820.4:c.135G>A	p.Lys45=	p.K45=	ENST00000375820	NM_001845.4	45	aaG/aaA	0			1			T	K	uc001vqw.3	protein_coding	YES	CCDS9511.1			135/5010									ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	c.(133-135)AAG>AAA			hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF61	alpha 1 type IV collagen preproprotein				ENSP00000364979		Feb-52									COSM2150041,COSM2150042	Feb-52	.		ENST00000375820	Transcript	1		angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	ENSG00000187498	g.chr13:110895031C>T	2202			LOW								--	--	1																																		COL4A1_uc010agl.2_Silent_p.K45K	1,1	1			p.K45K	NM_001845	NP_001836			1,1	CO4A1_HUMAN	COL4A1	HGNC	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		A9LSU1_HUMAN		2	257	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	UPI00001FCA8A	45					SNV	COL4A1,synonymous_variant,p.=,ENST00000375820,NM_001845.4;COL4A1,synonymous_variant,p.=,ENST00000543140,;	uc001vqw.3	c.135G>A	257/6524	2	2			c.135G>A						13	SNP	c.(133-135)AAG>AAA	32	32			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	Broad	alpha 1 type IV collagen preproprotein			110895031		0.408	ENSG00000187498	3626	g.chr13:110895031C>T	angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding							511.713328	KEEP	92	91	-1	175	161	92	91	-1	519.181672	175	161	0.362832	1	0	0	0	0	0	0	1	0	--	--		0	T			COL4A1_uc010agl.2_Silent_p.K45K	28	GBM-06-0157-TP	p.K45K	C	CCTTTTGTCCCTTCACTCCAT	NM_001845	NP_001836	110895031	P02462	CO4A1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		2	257	-	T	T	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	Silent	45						
COL4A1	1282	broad.mit.edu	GRCh37	13	110855947	110855947	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0168-01	TCGA-06-0168-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375820.4:c.965A>G	p.Lys322Arg	p.K322R	ENST00000375820	NM_001845.4	322	aAg/aGg	0			1			C	K/R	uc001vqw.3	protein_coding	YES	CCDS9511.1			965/5010									ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	c.(964-966)AAG>AGG			Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF61,Pfam_domain:PF01391	alpha 1 type IV collagen preproprotein				ENSP00000364979		18/52									COSM3399228	18/52	.		ENST00000375820	Transcript	1		angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	ENSG00000187498	g.chr13:110855947T>C	2202			MODERATE		-0.07	neutral	getma.org/?cm=msa&ty=f&p=CO4A1_HUMAN&rb=273&re=334&var=K322R	NA	getma.org/?cm=var&var=hg19,13,110855947,T,C&fts=all	K322R	--	--	1																																		COL4A1_uc010agl.2_Intron	1	1		unknown(0)	p.K322R	NM_001845	NP_001836			1	CO4A1_HUMAN	COL4A1	HGNC	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		A9LSU1_HUMAN		18	1087	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	UPI00001FCA8A	322			Triple-helical region.		SNV	COL4A1,missense_variant,p.Lys322Arg,ENST00000375820,NM_001845.4;COL4A1,missense_variant,p.Lys322Arg,ENST00000543140,;	uc001vqw.3	c.965A>G	1087/6524	3	3			c.965A>G						13	SNP	c.(964-966)AAG>AGG	59	59			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	Broad	alpha 1 type IV collagen preproprotein			110855947		0.453	ENSG00000187498	3626	g.chr13:110855947T>C	angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding							-38.929314	KEEP	1	3	-1	91	117	1	3	-1	6.852206	91	117	0.017241	1	0	0	0	0	1	0	0	0	--	--		0	C			COL4A1_uc010agl.2_Intron	33	GBM-06-0168-TP	p.K322R	T	TGCTTCACCCTTTTCTCCCTA	NM_001845	NP_001836	110855947	P02462	CO4A1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		18	1087	-	C	C	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	Missense_Mutation	322			Triple-helical region.			
COL4A1	0	broad.mit.edu	GRCh37	13	110819539	110819539	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-06-6695-01	TCGA-06-6695-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375820.4:c.3915T>G	p.Gly1305=	p.G1305=	ENST00000375820	NM_001845.4	1305	ggT/ggG	0			1			C	G	uc001vqw.3	protein_coding	YES	CCDS9511.1			3915/5010									ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	c.(3913-3915)GGT>GGG			Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF61	alpha 1 type IV collagen preproprotein				ENSP00000364979		44/52									COSM3747938,COSM3747939	44/52	.		ENST00000375820	Transcript	1		angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	ENSG00000187498	g.chr13:110819539A>C	2202			LOW								--	--	1																																		COL4A1_uc010agl.2_Intron	1,1	1			p.G1305G	NM_001845	NP_001836			1,1	CO4A1_HUMAN	COL4A1	HGNC	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		A9LSU1_HUMAN		44	4037	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	UPI00001FCA8A	1305			Triple-helical region.		SNV	COL4A1,synonymous_variant,p.=,ENST00000375820,NM_001845.4;COL4A1,upstream_gene_variant,,ENST00000467182,;COL4A1,upstream_gene_variant,,ENST00000474391,;	uc001vqw.3	c.3915T>G	4037/6524	3	3			c.3915T>G						13	SNP	c.(3913-3915)GGT>GGG	57	57			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	Broad	alpha 1 type IV collagen preproprotein			110819539		0.507	ENSG00000187498	3626	g.chr13:110819539A>C	angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding							-37.601462	KEEP	7	3	-1	104	118	7	3	-1	6.465791	104	118	0.032787	1	0	0	0	0	0	0	1	0	--	--		0	C			COL4A1_uc010agl.2_Intron	110	GBM-06-6695-TP	p.G1305G	A	GCCCCATATCACCCTTAGAGC	NM_001845	NP_001836	110819539	P02462	CO4A1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		44	4037	-	C	C	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	Silent	1305			Triple-helical region.			
COL4A2	1284	broad.mit.edu	GRCh37	13	111134945	111134945	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2562-01	TCGA-06-2562-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360467.5:c.2841C>T	p.Gly947=	p.G947=	ENST00000360467	NM_001846.2	947	ggC/ggT	0			1			T	G	uc001vqx.2	protein_coding	YES	CCDS41907.1			2841/5139									skin(3)|central_nervous_system(2)|ovary(1)	6	c.(2839-2841)GGC>GGT			Pfam_domain:PF01391,hmmpanther:PTHR24023:SF366,hmmpanther:PTHR24023	alpha 2 type IV collagen preproprotein				ENSP00000353654		32/48									COSM3399233	32/48	.		ENST00000360467	Transcript	1		angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	ENSG00000134871	g.chr13:111134945C>T	2203			LOW								--	--	1																																			1	1			p.G947G	NM_001846	NP_001837			1	CO4A2_HUMAN	COL4A2	HGNC	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		A2A352_HUMAN		32	3130	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	UPI000041C713	947			Triple-helical region.		SNV	COL4A2,synonymous_variant,p.=,ENST00000360467,NM_001846.2;COL4A2,non_coding_transcript_exon_variant,,ENST00000483683,;	uc001vqx.2	c.2841C>T	3147/6281	2	2			c.2841C>T						13	SNP	c.(2839-2841)GGC>GGT	35	35			skin(3)|central_nervous_system(2)|ovary(1)	6	Broad	alpha 2 type IV collagen preproprotein			111134945		0.527	ENSG00000134871	3627	g.chr13:111134945C>T	angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding							-75.127662	KEEP	6	0	-1	133	192	6	0	-1	8.16191	133	192	0.015924	1	0	0	0	0	0	0	1	0	--	--		0	T				85	GBM-06-2562-TP	p.G947G	C	GGAGCAAAGGCGAGGCTGGAT	NM_001846	NP_001837	111134945	P08572	CO4A2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		32	3130	+	T	T	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	Silent	947			Triple-helical region.			
COL4A2	1284	broad.mit.edu	GRCh37	13	111088642	111088642	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360467.5:c.753C>T	p.Asn251=	p.N251=	ENST00000360467	NM_001846.2	251	aaC/aaT	0			1			T	N	uc001vqx.2	protein_coding	YES	CCDS41907.1			753/5139									skin(3)|central_nervous_system(2)|ovary(1)	6	c.(751-753)AAC>AAT			hmmpanther:PTHR24023:SF366,hmmpanther:PTHR24023	alpha 2 type IV collagen preproprotein				ENSP00000353654		13/48	8.27E-06						0.00111		rs763026854,COSM3399231	13/48	.		ENST00000360467	Transcript	1		angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	ENSG00000134871	g.chr13:111088642C>T	2203			LOW								--	--	1																																			0,1	1			p.N251N	NM_001846	NP_001837			0,1	CO4A2_HUMAN	COL4A2	HGNC	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		A2A352_HUMAN		13	1042	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	UPI000041C713	251			Triple-helical region.		SNV	COL4A2,synonymous_variant,p.=,ENST00000360467,NM_001846.2;	uc001vqx.2	c.753C>T	1059/6281	2	2			c.753C>T						13	SNP	c.(751-753)AAC>AAT	47	47			skin(3)|central_nervous_system(2)|ovary(1)	6	Broad	alpha 2 type IV collagen preproprotein			111088642		0.463	ENSG00000134871	3627	g.chr13:111088642C>T	angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding							164.706977	KEEP	31	25	-1	5	9	31	25	-1	169.932006	5	9	0.803279	1	0	0	0	0	0	0	1	0	--	--		0	T				102	GBM-06-5858-TP	p.N251N	C	CGGGACCCAACGGGATTCCAT	NM_001846	NP_001837	111088642	P08572	CO4A2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		13	1042	+	T	T	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	Silent	251			Triple-helical region.			
COL4A2	0	broad.mit.edu	GRCh37	13	111132630	111132630	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-12-0821-01	TCGA-12-0821-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360467.5:c.2651G>T	p.Gly884Val	p.G884V	ENST00000360467	NM_001846.2	884	gGt/gTt	0			1			T	G/V	uc001vqx.2	protein_coding	YES	CCDS41907.1			2651/5139									skin(3)|central_nervous_system(2)|ovary(1)	6	c.(2650-2652)GGT>GTT			Pfam_domain:PF01391,hmmpanther:PTHR24023:SF366,hmmpanther:PTHR24023	alpha 2 type IV collagen preproprotein				ENSP00000353654		31/48									COSM3399232	31/48	.		ENST00000360467	Transcript	1		angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	ENSG00000134871	g.chr13:111132630G>T	2203			MODERATE		4.25	high	getma.org/?cm=msa&ty=f&p=CO4A2_HUMAN&rb=862&re=938&var=G884V	getma.org/pdb.php?prot=CO4A2_HUMAN&from=862&to=938&var=G884V	getma.org/?cm=var&var=hg19,13,111132630,G,T&fts=all	G884V	--	--	1																																			1	1		possibly_damaging(0.63)	p.G884V	NM_001846	NP_001837			1	CO4A2_HUMAN	COL4A2	HGNC	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		A2A352_HUMAN		31	2940	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	UPI000041C713	884			Triple-helical region.		SNV	COL4A2,missense_variant,p.Gly884Val,ENST00000360467,NM_001846.2;COL4A2,non_coding_transcript_exon_variant,,ENST00000483683,;	uc001vqx.2	c.2651G>T	2957/6281	2	2			c.2651G>T						13	SNP	c.(2650-2652)GGT>GTT	30	30			skin(3)|central_nervous_system(2)|ovary(1)	6	Broad	alpha 2 type IV collagen preproprotein			111132630		0.582	ENSG00000134871	3627	g.chr13:111132630G>T	angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding							353.98527	KEEP	94	35	0.728682171	116	52	94	35	0.728682171	354.938826	116	52	0.435606	1	0	0	0	0	1	0	0	0	--	--		0	T				123	GBM-12-0821-TP	p.G884V	G	GGCATGAAAGGTCTCTCTGGT	NM_001846	NP_001837	111132630	P08572	CO4A2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		31	2940	+	T	T	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	Missense_Mutation	884			Triple-helical region.			
COL4A2	1284		GRCh37	13	111084708	111084708	+	splice_donor_variant	Splice_Site	SNP	G	G	A			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000360467.5:c.684+1G>A		p.X228_splice	ENST00000360467	NM_001846.2	228		0																																																																																																																																																																																																																																												
COL4A4	1286	broad.mit.edu	GRCh37	2	227872085	227872085	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01	TCGA-06-2564-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396625.3:c.5029C>T	p.Arg1677Cys	p.R1677C	ENST00000396625	NM_000092.4	1677	Cgc/Tgc	0			1			A	R/C	uc010zlt.1	protein_coding	YES	CCDS42828.1			5029/5073									ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11	c.(5029-5031)CGC>TGC			PROSITE_profiles:PS51403,hmmpanther:PTHR24021:SF5,hmmpanther:PTHR24021,Pfam_domain:PF01413,Gene3D:1t60D00,SMART_domains:SM00111,Superfamily_domains:SSF56436	alpha 4 type IV collagen precursor				ENSP00000379866		48/48	6.62E-05		0.000432		0.000151	1.50E-05		6.06E-05	rs759631057,COSM149075	48/48	common_variant		ENST00000396625	Transcript	1		axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	ENSG00000081052	g.chr2:227872085G>A	2206			MODERATE		3.195	medium	getma.org/?cm=msa&ty=f&p=CO4A4_HUMAN&rb=1573&re=1689&var=R1677C	getma.org/pdb.php?prot=CO4A4_HUMAN&from=1573&to=1689&var=R1677C	getma.org/?cm=var&var=hg19,2,227872085,G,A&fts=all	R1677C	--	--	1																																			0,1	1		unknown(0)	p.R1677C	NM_000092	NP_000083			0,1	CO4A4_HUMAN	COL4A4	HGNC	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)			47	5683	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	UPI000013D987	1677			Collagen IV NC1.		SNV	COL4A4,missense_variant,p.Arg1677Cys,ENST00000396625,NM_000092.4;COL4A4,missense_variant,p.Arg1674Cys,ENST00000329662,;	uc010zlt.1	c.5029C>T	5237/9895	2	2			c.5029C>T						2	SNP	c.(5029-5031)CGC>TGC	44	44			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11	Broad	alpha 4 type IV collagen precursor			227872085		0.493	ENSG00000081052	3630	g.chr2:227872085G>A	axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding							905.112363	KEEP	182	191	-1	322	304	182	191	-1	916.699526	322	304	0.376019	1	0	0	0	0	1	0	0	0	--	--		0	A				87	GBM-06-2564-TP	p.R1677C	G	ATTTTCTGGCGTTGGGCCTGG	NM_000092	NP_000083	227872085	P53420	CO4A4_HUMAN	0		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	47	5683	-	A	A		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	Missense_Mutation	1677			Collagen IV NC1.			
COL4A4	0	broad.mit.edu	GRCh37	2	227922184	227922184	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396625.3:c.2516C>T	p.Pro839Leu	p.P839L	ENST00000396625	NM_000092.4	839	cCg/cTg	0			1			A	P/L	uc010zlt.1	protein_coding	YES	CCDS42828.1			2516/5073									ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11	c.(2515-2517)CCG>CTG			Low_complexity_(Seg):seg,hmmpanther:PTHR24021:SF5,hmmpanther:PTHR24021	alpha 4 type IV collagen precursor				ENSP00000379866		29/48	4.14E-05		0.000325			4.72E-05		8.53E-05	rs199562472,COSM3407630	29/48	.		ENST00000396625	Transcript	1		axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	ENSG00000081052	g.chr2:227922184G>A	2206			MODERATE		2.675	medium	getma.org/?cm=msa&ty=f&p=CO4A4_HUMAN&rb=740&re=854&var=P839L	NA	getma.org/?cm=var&var=hg19,2,227922184,G,A&fts=all	P839L	--	--	1																																			0,1	1		unknown(0)	p.P839L	NM_000092	NP_000083			0,1	CO4A4_HUMAN	COL4A4	HGNC	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)			29	3170	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	UPI000013D987	839			Triple-helical region.		SNV	COL4A4,missense_variant,p.Pro839Leu,ENST00000396625,NM_000092.4;COL4A4,missense_variant,p.Pro839Leu,ENST00000329662,;	uc010zlt.1	c.2516C>T	2724/9895	1	1			c.2516C>T						2	SNP	c.(2515-2517)CCG>CTG	49	49			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11	Broad	alpha 4 type IV collagen precursor			227922184		0.433	ENSG00000081052	3630	g.chr2:227922184G>A	axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding							17.88172	KEEP	4	5	-1	15	18	4	5	-1	21.025163	15	18	0.205128	1	0	0	0	0	1	0	0	0	--	--		0	A				271	GBM-76-4932-TP	p.P839L	G	AGGGAGTCCCGGTTGCCCTGG	NM_000092	NP_000083	227922184	P53420	CO4A4_HUMAN	0		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	29	3170	-	A	A		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	Missense_Mutation	839			Triple-helical region.			
COL4A4	1286		GRCh37	2	227942664	227942664	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000396625.3:c.1933G>A	p.Gly645Arg	p.G645R	ENST00000396625	NM_000092.4	645	Gga/Aga	0																																																																																																																																																																																																																																												
COL4A4	1286		GRCh37	2	227942679	227942679	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000396625.3:c.1918G>A	p.Glu640Lys	p.E640K	ENST00000396625	NM_000092.4	640	Gag/Aag	0																																																																																																																																																																																																																																												
COL4A4	1286		GRCh37	2	227942699	227942699	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000396625.3:c.1898G>A	p.Gly633Glu	p.G633E	ENST00000396625	NM_000092.4	633	gGa/gAa	0																																																																																																																																																																																																																																												
COL4A5	1287	broad.mit.edu	GRCh37	X	107840792	107840792	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-5417-01	TCGA-06-5417-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328300.6:c.1773A>G	p.Gly591=	p.G591=	ENST00000328300	NM_033380.2	591	ggA/ggG	0			1			G	G	uc004enz.1	protein_coding		CCDS14543.1			1773/5058									ovary(3)|central_nervous_system(1)	4	c.(1771-1773)GGA>GGG			Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF381,Low_complexity_(Seg):seg	type IV collagen alpha 5 isoform 2 precursor				ENSP00000354505		24/51									COSM2153276,COSM3405835	24/51	.	Alport_syndrome_with_Diffuse_Leiomyomatosis	ENST00000361603	Transcript	1		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	ENSG00000188153	g.chrX:107840792A>G	2207			LOW								--	--	1																																		COL4A5_uc011mso.1_Silent_p.G591G|COL4A5_uc004eob.1_Silent_p.G199G	1,1				p.G591G	NM_033380	NP_203699			1,1	CO4A5_HUMAN	COL4A5	HGNC	P29400	CO4A5_HUMAN			H0Y9R8_HUMAN,B4DFF0_HUMAN		24	1975	+			UPI0000126D57	591			Triple-helical region.		SNV	COL4A5,synonymous_variant,p.=,ENST00000328300,NM_033380.2;COL4A5,synonymous_variant,p.=,ENST00000361603,NM_000495.4;COL4A5,non_coding_transcript_exon_variant,,ENST00000483338,;	uc004enz.1	c.1773A>G	2017/6469	3	3			c.1773A>G						23	SNP	c.(1771-1773)GGA>GGG	8	8			ovary(3)|central_nervous_system(1)	4	Broad	type IV collagen alpha 5 isoform 2 precursor			107840792	Alport_syndrome_with_Diffuse_Leiomyomatosis	0.463	ENSG00000188153	3631	g.chrX:107840792A>G	axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding							123.758059	KEEP	21	16	-1	20	10	21	16	-1	123.844748	20	10	0.539683	1	0	0	0	0	0	0	1	0	--	--		0	G			COL4A5_uc011mso.1_Silent_p.G591G|COL4A5_uc004eob.1_Silent_p.G199G	99	GBM-06-5417-TP	p.G591G	A	GCCCGAAAGGAGAGCCTGTGA	NM_033380	NP_203699	107840792	P29400	CO4A5_HUMAN	0			24	1975	+	G	G			Silent	591			Triple-helical region.			
COL4A5	0	broad.mit.edu	GRCh37	X	107827754	107827754	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C			TCGA-14-0813-01	TCGA-14-0813-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361603.2:c.1031T>C	p.Leu344Pro	p.L344P	ENST00000361603	NM_000495.4	344	cTt/cCt	0			1			C	L/P	uc004enz.1	protein_coding		CCDS14543.1			1031/5058									ovary(3)|central_nervous_system(1)	4	c.(1030-1032)CTT>CCT			hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF381,Low_complexity_(Seg):seg	type IV collagen alpha 5 isoform 2 precursor				ENSP00000354505		18/51									COSM3405834,COSM3405833	18/51	.	Alport_syndrome_with_Diffuse_Leiomyomatosis	ENST00000361603	Transcript	1		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	ENSG00000188153	g.chrX:107827754T>C	2207			MODERATE		0.28	neutral	getma.org/?cm=msa&ty=f&p=CO4A5_HUMAN&rb=340&re=415&var=L344P	NA	getma.org/?cm=var&var=hg19,X,107827754,T,C&fts=all	L344P	--	--	1																																		COL4A5_uc011mso.1_Missense_Mutation_p.L344P|COL4A5_uc004eob.1_5'UTR	1,1			unknown(0)	p.L344P	NM_033380	NP_203699			1,1	CO4A5_HUMAN	COL4A5	HGNC	P29400	CO4A5_HUMAN			H0Y9R8_HUMAN,B4DFF0_HUMAN		18	1233	+			UPI0000126D57	344			Triple-helical region.		SNV	COL4A5,missense_variant,p.Leu344Pro,ENST00000328300,NM_033380.2;COL4A5,missense_variant,p.Leu344Pro,ENST00000361603,NM_000495.4;COL4A5,splice_region_variant,,ENST00000483338,;	uc004enz.1	c.1031T>C	1275/6469	3	3			c.1031T>C						23	SNP	c.(1030-1032)CTT>CCT	13	13			ovary(3)|central_nervous_system(1)	4	Broad	type IV collagen alpha 5 isoform 2 precursor			107827754	Alport_syndrome_with_Diffuse_Leiomyomatosis	0.343	ENSG00000188153	3631	g.chrX:107827754T>C	axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding							3.029296	KEEP	4	1	-1	32	27	4	1	-1	13.351089	32	27	0.084746	1	0	0	0	0	1	0	0	0	--	--		0	C			COL4A5_uc011mso.1_Missense_Mutation_p.L344P|COL4A5_uc004eob.1_5'UTR	138	GBM-14-0813-TP	p.L344P	T	CCTCCTGGACTTGTAAGTTTT	NM_033380	NP_203699	107827754	P29400	CO4A5_HUMAN	0			18	1233	+	C	C			Missense_Mutation	344			Triple-helical region.			
COL4A5	0	broad.mit.edu	GRCh37	X	107841977	107841977	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs104886135		TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361603.2:c.1825G>A	p.Gly609Ser	p.G609S	ENST00000361603	NM_000495.4	609	Ggt/Agt	0			1			A	G/S	uc004enz.1	protein_coding		CCDS14543.1			1825/5058									ovary(3)|central_nervous_system(1)	4	c.(1825-1827)GGT>AGT			Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF381,Low_complexity_(Seg):seg	type IV collagen alpha 5 isoform 2 precursor				ENSP00000354505		25/51									COSM3405837,COSM3405836	25/51	.	Alport_syndrome_with_Diffuse_Leiomyomatosis	ENST00000361603	Transcript	1		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	ENSG00000188153	g.chrX:107841977G>A	2207			MODERATE		3.915	high	getma.org/?cm=msa&ty=f&p=CO4A5_HUMAN&rb=598&re=659&var=G609S	NA	getma.org/?cm=var&var=hg19,X,107841977,G,A&fts=all	G609S	--	--	1																																		COL4A5_uc011mso.1_Missense_Mutation_p.G609S|COL4A5_uc004eob.1_Missense_Mutation_p.G217S	1,1			unknown(0)	p.G609S	NM_033380	NP_203699			1,1	CO4A5_HUMAN	COL4A5	HGNC	P29400	CO4A5_HUMAN			H0Y9R8_HUMAN,B4DFF0_HUMAN		25	2027	+			UPI0000126D57	609		G -> V (in APSX; juvenile type).|G -> R (in APSX; juvenile type).	Triple-helical region.		SNV	COL4A5,missense_variant,p.Gly609Ser,ENST00000328300,NM_033380.2;COL4A5,missense_variant,p.Gly609Ser,ENST00000361603,NM_000495.4;COL4A5,non_coding_transcript_exon_variant,,ENST00000483338,;	uc004enz.1	c.1825G>A	2069/6469	1	1			c.1825G>A						23	SNP	c.(1825-1827)GGT>AGT	62	62			ovary(3)|central_nervous_system(1)	4	Broad	type IV collagen alpha 5 isoform 2 precursor			107841977	Alport_syndrome_with_Diffuse_Leiomyomatosis	0.483	ENSG00000188153	3631	g.chrX:107841977G>A	axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding							-25.666122	KEEP	4	2	-1	90	71	4	2	-1	10.826494	90	71	0.03268	1	0	0	0	0	1	0	0	0	--	--		0	A			COL4A5_uc011mso.1_Missense_Mutation_p.G609S|COL4A5_uc004eob.1_Missense_Mutation_p.G217S	240	GBM-32-2632-TP	p.G609S	G	TGGGAACCCAGGTTTACCAGG	NM_033380	NP_203699	107841977	P29400	CO4A5_HUMAN	0			25	2027	+	A	A			Missense_Mutation	609		G -> V (in APSX; juvenile type).|G -> R (in APSX; juvenile type).	Triple-helical region.			
COL4A6	1288	broad.mit.edu	GRCh37	X	107435807	107435807	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-6389-01	TCGA-06-6389-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372216.4:c.1079A>G	p.Asn360Ser	p.N360S	ENST00000372216	NM_001847.2	360	aAt/aGt	0			1			C	N/S	uc004enw.3	protein_coding	YES	CCDS14541.1			1079/5076									ovary(6)|urinary_tract(1)|large_intestine(1)	8	c.(1078-1080)AAT>AGT			Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF164,Low_complexity_(Seg):seg	type IV alpha 6 collagen isoform A precursor				ENSP00000361290		18/45									COSM456475,COSM2153421	18/45	.	Alport_syndrome_with_Diffuse_Leiomyomatosis	ENST00000372216	Transcript	1		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	ENSG00000197565	g.chrX:107435807T>C	2208			MODERATE		0.65	neutral	getma.org/?cm=msa&ty=f&p=CO4A6_HUMAN&rb=357&re=418&var=N360S	NA	getma.org/?cm=var&var=hg19,X,107435807,T,C&fts=all	N360S	--	--	1																																		COL4A6_uc004env.3_Missense_Mutation_p.N359S|COL4A6_uc011msn.1_Missense_Mutation_p.N359S|COL4A6_uc010npk.2_Missense_Mutation_p.N359S	1,1	1		unknown(0)	p.N360S	NM_001847	NP_001838			1,1	CO4A6_HUMAN	COL4A6	HGNC	Q14031	CO4A6_HUMAN			B4DU54_HUMAN		18	1182	-			UPI000049E122	360			Triple-helical region.		SNV	COL4A6,missense_variant,p.Asn359Ser,ENST00000334504,NM_033641.2;COL4A6,missense_variant,p.Asn360Ser,ENST00000394872,;COL4A6,missense_variant,p.Asn360Ser,ENST00000372216,NM_001847.2;COL4A6,missense_variant,p.Asn359Ser,ENST00000545689,NM_001287759.1;COL4A6,missense_variant,p.Asn359Ser,ENST00000538570,NM_001287760.1;	uc004enw.3	c.1079A>G	1180/6570	3	3			c.1079A>G						23	SNP	c.(1078-1080)AAT>AGT	9	9			ovary(6)|urinary_tract(1)|large_intestine(1)	8	Broad	type IV alpha 6 collagen isoform A precursor			107435807	Alport_syndrome_with_Diffuse_Leiomyomatosis	0.502	ENSG00000197565	3632	g.chrX:107435807T>C	cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	Melanoma(87;1895 1945 2589 7165)			Melanoma(87;1895 1945 2589 7165)			20.044764	KEEP	2	5	-1	9	3	2	5	-1	20.487193	9	3	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	C			COL4A6_uc004env.3_Missense_Mutation_p.N359S|COL4A6_uc011msn.1_Missense_Mutation_p.N359S|COL4A6_uc010npk.2_Missense_Mutation_p.N359S	105	GBM-06-6389-TP	p.N360S	T	ATCTCCAGGATTACCTGGCAT	NM_001847	NP_001838	107435807	Q14031	CO4A6_HUMAN	0			18	1182	-	C	C			Missense_Mutation	360			Triple-helical region.			
COL4A6	0	broad.mit.edu	GRCh37	X	107431199	107431199	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-32-1979-01	TCGA-32-1979-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372216.4:c.1649T>A	p.Leu550His	p.L550H	ENST00000372216	NM_001847.2	550	cTc/cAc	0			1			T	L/H	uc004enw.3	protein_coding	YES	CCDS14541.1			1649/5076									ovary(6)|urinary_tract(1)|large_intestine(1)	8	c.(1648-1650)CTC>CAC			hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF164	type IV alpha 6 collagen isoform A precursor				ENSP00000361290		22/45									COSM3405831,COSM3405832	22/45	.	Alport_syndrome_with_Diffuse_Leiomyomatosis	ENST00000372216	Transcript	1		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	ENSG00000197565	g.chrX:107431199A>T	2208			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=CO4A6_HUMAN&rb=489&re=550&var=L550H	NA	getma.org/?cm=var&var=hg19,X,107431199,A,T&fts=all	L550H	--	--	1																																		COL4A6_uc004env.3_Missense_Mutation_p.L549H|COL4A6_uc011msn.1_Missense_Mutation_p.L549H|COL4A6_uc010npk.2_Missense_Mutation_p.L549H	1,1	1		probably_damaging(0.99)	p.L550H	NM_001847	NP_001838			1,1	CO4A6_HUMAN	COL4A6	HGNC	Q14031	CO4A6_HUMAN			B4DU54_HUMAN		22	1752	-			UPI000049E122	550			Triple-helical region.		SNV	COL4A6,missense_variant,p.Leu549His,ENST00000334504,NM_033641.2;COL4A6,missense_variant,p.Leu550His,ENST00000394872,;COL4A6,missense_variant,p.Leu550His,ENST00000372216,NM_001847.2;COL4A6,missense_variant,p.Leu549His,ENST00000545689,NM_001287759.1;COL4A6,missense_variant,p.Leu549His,ENST00000538570,NM_001287760.1;	uc004enw.3	c.1649T>A	1750/6570	2	2			c.1649T>A						23	SNP	c.(1648-1650)CTC>CAC	30	30			ovary(6)|urinary_tract(1)|large_intestine(1)	8	Broad	type IV alpha 6 collagen isoform A precursor			107431199	Alport_syndrome_with_Diffuse_Leiomyomatosis	0.512	ENSG00000197565	3632	g.chrX:107431199A>T	cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	Melanoma(87;1895 1945 2589 7165)			Melanoma(87;1895 1945 2589 7165)			8.373714	KEEP	9	5	-1	57	70	9	5	-1	29.158622	57	70	0.1	1	0	0	0	0	1	0	0	0	--	--		0	T			COL4A6_uc004env.3_Missense_Mutation_p.L549H|COL4A6_uc011msn.1_Missense_Mutation_p.L549H|COL4A6_uc010npk.2_Missense_Mutation_p.L549H	230	GBM-32-1979-TP	p.L550H	A	GATTGTACTGAGAATTGGTTC	NM_001847	NP_001838	107431199	Q14031	CO4A6_HUMAN	0			22	1752	-	T	T			Missense_Mutation	550			Triple-helical region.			
COL5A1	1289	broad.mit.edu	GRCh37	9	137622156	137622156	+	synonymous_variant	Silent	SNP	C	C	T	rs138702819	byFrequency	TCGA-06-0644-01	TCGA-06-0644-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371817.3:c.999C>T	p.Val333=	p.V333=	ENST00000371817	NM_001278074.1	333	gtC/gtT	0	T:0.0009	T:0.0015	1	T:0		T	V	uc004cfe.2	protein_coding	YES	CCDS6982.1			999/5517									skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11	c.(997-999)GTC>GTT			hmmpanther:PTHR24023:SF387,hmmpanther:PTHR24023	alpha 1 type V collagen preproprotein		T:0	T:0	ENSP00000360882	T:0	Jul-66	6.59E-05	0.000481	8.64E-05					0.000121	rs138702819,COSM2151239	Jul-66	common_variant		ENST00000371817	Transcript	1	T:0.0006	axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	ENSG00000130635	g.chr9:137622156C>T	2209			LOW								--	--	1																																			0,1	1			p.V333V	NM_000093	NP_000084	T:0.001		0,1	CO5A1_HUMAN	COL5A1	HGNC	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	Q9UML4_HUMAN,Q96HC0_HUMAN,Q59EE7_HUMAN		7	1381	+		Myeloproliferative disorder(178;0.0341)	UPI0000210EE3	333			Nonhelical region.		SNV	COL5A1,synonymous_variant,p.=,ENST00000371817,NM_001278074.1,NM_000093.4;COL5A1,upstream_gene_variant,,ENST00000469093,;	uc004cfe.2	c.999C>T	1413/8468	2	2			c.999C>T						9	SNP	c.(997-999)GTC>GTT	34	34			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11	Broad	alpha 1 type V collagen preproprotein			137622156		0.622	ENSG00000130635	3633	g.chr9:137622156C>T	axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding							233.837571	KEEP	52	43	-1	93	123	52	43	-1	241.149813	93	123	0.324627	1	0	0	0	0	0	0	1	0	--	--		0	T				58	GBM-06-0644-TP	p.V333V	C	AAGAGGACGTCGGCATCGGGG	NM_000093	NP_000084	137622156	P20908	CO5A1_HUMAN	0		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	7	1381	+	T	T		Myeloproliferative disorder(178;0.0341)	Silent	333			Nonhelical region.			
COL5A1	1289	broad.mit.edu	GRCh37	9	137623922	137623922	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-5418-01	TCGA-06-5418-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371817.3:c.1338A>G	p.Gly446=	p.G446=	ENST00000371817	NM_001278074.1	446	ggA/ggG	0			1			G	G	uc004cfe.2	protein_coding	YES	CCDS6982.1			1338/5517									skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11	c.(1336-1338)GGA>GGG			hmmpanther:PTHR24023:SF387,hmmpanther:PTHR24023	alpha 1 type V collagen preproprotein				ENSP00000360882		Sep-66									COSM3413439	Sep-66	.		ENST00000371817	Transcript	1		axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	ENSG00000130635	g.chr9:137623922A>G	2209			LOW								--	--	1																																			1	1			p.G446G	NM_000093	NP_000084			1	CO5A1_HUMAN	COL5A1	HGNC	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	Q9UML4_HUMAN,Q96HC0_HUMAN,Q59EE7_HUMAN		9	1720	+		Myeloproliferative disorder(178;0.0341)	UPI0000210EE3	446			Interrupted collagenous region.		SNV	COL5A1,synonymous_variant,p.=,ENST00000371817,NM_001278074.1,NM_000093.4;COL5A1,non_coding_transcript_exon_variant,,ENST00000469093,;	uc004cfe.2	c.1338A>G	1752/8468	3	3			c.1338A>G						9	SNP	c.(1336-1338)GGA>GGG	7	7			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11	Broad	alpha 1 type V collagen preproprotein			137623922		0.532	ENSG00000130635	3633	g.chr9:137623922A>G	axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding							-48.558847	KEEP	2	1	-1	121	106	2	1	-1	6.631069	121	106	0.014563	1	0	0	0	0	0	0	1	0	--	--		0	G				100	GBM-06-5418-TP	p.G446G	A	CCCAGATTGGAGGACCTCGGG	NM_000093	NP_000084	137623922	P20908	CO5A1_HUMAN	0		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	9	1720	+	G	G		Myeloproliferative disorder(178;0.0341)	Silent	446			Interrupted collagenous region.			
COL5A1	0	broad.mit.edu	GRCh37	9	137623480	137623480	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01	TCGA-06-6695-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371817.3:c.1303C>T	p.Pro435Ser	p.P435S	ENST00000371817	NM_001278074.1	435	Ccg/Tcg	0			1			T	P/S	uc004cfe.2	protein_coding	YES	CCDS6982.1			1303/5517									skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11	c.(1303-1305)CCG>TCG			hmmpanther:PTHR24023:SF387,hmmpanther:PTHR24023	alpha 1 type V collagen preproprotein				ENSP00000360882		Aug-66									COSM3413438	Aug-66	.		ENST00000371817	Transcript	1		axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	ENSG00000130635	g.chr9:137623480C>T	2209			MODERATE		1.055	low	getma.org/?cm=msa&ty=f&p=CO5A1_HUMAN&rb=430&re=466&var=P435S	NA	getma.org/?cm=var&var=hg19,9,137623480,C,T&fts=all	P435S	--	--	1																																			1	1		probably_damaging(0.998)	p.P435S	NM_000093	NP_000084			1	CO5A1_HUMAN	COL5A1	HGNC	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	Q9UML4_HUMAN,Q96HC0_HUMAN,Q59EE7_HUMAN		8	1685	+		Myeloproliferative disorder(178;0.0341)	UPI0000210EE3	435			Nonhelical region.		SNV	COL5A1,missense_variant,p.Pro435Ser,ENST00000371817,NM_001278074.1,NM_000093.4;COL5A1,non_coding_transcript_exon_variant,,ENST00000469093,;	uc004cfe.2	c.1303C>T	1717/8468	2	2			c.1303C>T						9	SNP	c.(1303-1305)CCG>TCG	30	30			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11	Broad	alpha 1 type V collagen preproprotein			137623480		0.572	ENSG00000130635	3633	g.chr9:137623480C>T	axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding							-24.975008	KEEP	2	3	-1	68	92	2	3	-1	6.93685	68	92	0.030303	1	0	0	0	0	1	0	0	0	--	--		0	T				110	GBM-06-6695-TP	p.P435S	C	GCCGGGAATGCCGGCGAACCA	NM_000093	NP_000084	137623480	P20908	CO5A1_HUMAN	0		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	8	1685	+	T	T		Myeloproliferative disorder(178;0.0341)	Missense_Mutation	435			Nonhelical region.			
COL5A1	1289		GRCh37	9	137704532	137704532	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000371817.3:c.3826G>A	p.Gly1276Arg	p.G1276R	ENST00000371817	NM_001278074.1	1276	Gga/Aga	0																																																																																																																																																																																																																																												
COL5A1	1289		GRCh37	9	137716532	137716532	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000371817.3:c.4785C>T	p.Asp1595=	p.D1595=	ENST00000371817	NM_001278074.1	1595	gaC/gaT	0																																																																																																																																																																																																																																												
COL5A2	0	broad.mit.edu	GRCh37	2	189927922	189927923	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C			TCGA-12-0821-01	TCGA-12-0821-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374866.3:c.1844dupG	p.Leu616ProfsTer7	p.L616Pfs*7	ENST00000374866	NM_000393.3	615	ggc/ggGc	0			1			C	G/GX	uc002uqk.2	protein_coding	YES	CCDS33350.1			1844-1845/4500									ovary(2)	2	c.(1843-1845)GGCfs			hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF481,Low_complexity_(Seg):seg	alpha 2 type V collagen preproprotein				ENSP00000364000		27/54										27/54	.		ENST00000374866	Transcript	1		axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	ENSG00000204262	g.chr2:189927922_189927923insC	2210			HIGH								--	--	1																																		COL5A2_uc010frx.2_Frame_Shift_Ins_p.G191fs		1			p.G615fs	NM_000393	NP_000384				CO5A2_HUMAN	COL5A2	HGNC	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		D3DPH5_HUMAN		27	2119_2120	-			UPI00006C511C	615					insertion	COL5A2,frameshift_variant,p.Leu616ProfsTer7,ENST00000374866,NM_000393.3;COL5A2,upstream_gene_variant,,ENST00000470524,;	uc002uqk.2	c.1844_1845insG	2119-2120/6949	5	5			c.1844_1845insG						2	INS	c.(1843-1845)GGCfs	4	4			ovary(2)	2	Broad	alpha 2 type V collagen preproprotein			189927923		0.52	ENSG00000204262	3634	g.chr2:189927922_189927923insC	axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent																				0.02	1	0	0	1	1	0	0	0	0	--	--		0	C			COL5A2_uc010frx.2_Frame_Shift_Ins_p.G191fs	123	GBM-12-0821-TP	p.G615fs	-	GGCCTGGAAGGCCCATGCTCCC	NM_000393	NP_000384	189927922	P05997	CO5A2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		27	2119_2120	-	C	C			Frame_Shift_Ins	615						
COL5A3	0	broad.mit.edu	GRCh37	19	10088375	10088375	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T			TCGA-41-3393-01	TCGA-41-3393-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264828.3:c.3021C>A	p.Gly1007=	p.G1007=	ENST00000264828	NM_015719.3	1007	ggC/ggA	0			1			T	G	uc002mmq.1	protein_coding	YES	CCDS12222.1			3021/5238									ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10	c.(3019-3021)GGC>GGA			hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF400	collagen, type V, alpha 3 preproprotein				ENSP00000264828		42/67	0.000214	0.000498		0.00029	0.00066	0.000138		0.000109	COSM1471108	42/67	common_variant		ENST00000264828	Transcript			collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	ENSG00000080573	g.chr19:10088375G>T	14864			LOW								--	--	1																																			1	1			p.G1007G	NM_015719	NP_056534			1	CO5A3_HUMAN	COL5A3	HGNC	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)				42	3107	-			UPI00002032A3	1007			Triple-helical region.		SNV	COL5A3,splice_region_variant,p.=,ENST00000264828,NM_015719.3;	uc002mmq.1	c.3021C>A	3107/6174	1	1			c.3021C>A						19	SNP	c.(3019-3021)GGC>GGA	6	6			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10	Broad	collagen, type V, alpha 3 preproprotein			10088375		0.572	ENSG00000080573	3635	g.chr19:10088375G>T	collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent							-0.465221	KEEP	1	5	0.166666667	17	28	1	5	0.166666667	6.712568	17	28	0.106383	1	0	0	0	0	0	0	1	0	--	--		0	T				255	GBM-41-3393-TP	p.G1007G	G	CACCAGGGGAGCCCTGAGAAC	NM_015719	NP_056534	10088375	P25940	CO5A3_HUMAN	0	Epithelial(33;7.11e-05)		42	3107	-	T	T			Silent	1007			Triple-helical region.			
COL5A3	0	broad.mit.edu	GRCh37	19	10104318	10104318	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-6191-01	TCGA-76-6191-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264828.3:c.1672C>A	p.Leu558Met	p.L558M	ENST00000264828	NM_015719.3	558	Ctg/Atg	0			1			T	L/M	uc002mmq.1	protein_coding	YES	CCDS12222.1			1672/5238									ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10	c.(1672-1674)CTG>ATG			hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF400	collagen, type V, alpha 3 preproprotein				ENSP00000264828		18/67										18/67	.		ENST00000264828	Transcript			collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	ENSG00000080573	g.chr19:10104318G>T	14864			MODERATE		1.12	low	getma.org/?cm=msa&ty=f&p=CO5A3_HUMAN&rb=540&re=739&var=L558M	NA	getma.org/?cm=var&var=hg19,19,10104318,G,T&fts=all	L558M	--	--	1																																				1		unknown(0)	p.L558M	NM_015719	NP_056534				CO5A3_HUMAN	COL5A3	HGNC	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)				18	1758	-			UPI00002032A3	558			Triple-helical region.		SNV	COL5A3,missense_variant,p.Leu558Met,ENST00000264828,NM_015719.3;CTD-2553C6.1,upstream_gene_variant,,ENST00000592332,;	uc002mmq.1	c.1672C>A	1758/6174	2	2			c.1672C>A						19	SNP	c.(1672-1674)CTG>ATG	22	22			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10	Broad	collagen, type V, alpha 3 preproprotein			10104318		0.587	ENSG00000080573	3635	g.chr19:10104318G>T	collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent							65.151479	KEEP	6	20	0.230769231	20	16	6	20	0.230769231	65.306285	20	16	0.44	1	0	0	0	0	1	0	0	0	--	--		0	T				274	GBM-76-6191-TP	p.L558M	G	TCACCAGGCAGCCCAGGGAGG	NM_015719	NP_056534	10104318	P25940	CO5A3_HUMAN	0	Epithelial(33;7.11e-05)		18	1758	-	T	T			Missense_Mutation	558			Triple-helical region.			
COL6A1	1291		GRCh37	21	47421892	47421892	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000361866.3:c.1974G>A	p.Ser658=	p.S658=	ENST00000361866	NM_001848.2	658	tcG/tcA	0																																																																																																																																																																																																																																												
COL6A1	1291		GRCh37	21	47423347	47423347	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000361866.3:c.2507G>A	p.Gly836Asp	p.G836D	ENST00000361866	NM_001848.2	836	gGc/gAc	0																																																																																																																																																																																																																																												
COL6A2	1292		GRCh37	21	47537831	47537831	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000300527.4:c.1097G>A	p.Arg366Gln	p.R366Q	ENST00000300527	NM_001849.3	366	cGa/cAa	0																																																																																																																																																																																																																																												
COL6A3	1293	broad.mit.edu	GRCh37	2	238275663	238275663	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01	TCGA-02-0055-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295550.4:c.5167C>T	p.Leu1723Phe	p.L1723F	ENST00000295550	NM_004369.3	1723	Ctt/Ttt	0			1			A	L/F	uc002vwl.2	protein_coding	YES	CCDS33412.1			5167/9534									ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18	c.(5167-5169)CTT>TTT			Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF83,SMART_domains:SM00327,Superfamily_domains:SSF53300	alpha 3 type VI collagen isoform 1 precursor				ENSP00000295550		Nov-44									COSM2149035	Nov-44	.		ENST00000295550	Transcript	1		axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	ENSG00000163359	g.chr2:238275663G>A	2213			MODERATE		2.475	medium	getma.org/?cm=msa&ty=f&p=CO6A3_HUMAN&rb=1639&re=1816&var=L1723F	getma.org/pdb.php?prot=CO6A3_HUMAN&from=1639&to=1816&var=L1723F	getma.org/?cm=var&var=hg19,2,238275663,G,A&fts=all	L1723F	--	--	1																																		COL6A3_uc002vwo.2_Missense_Mutation_p.L1517F|COL6A3_uc010znj.1_Missense_Mutation_p.L1116F	1	1		probably_damaging(0.944)	p.L1723F	NM_004369	NP_004360			1	CO6A3_HUMAN	COL6A3	HGNC	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	Q8N4Z1_HUMAN,D9ZGF2_HUMAN		11	5452	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	UPI0000456F39	1723			VWFA 9.|Nonhelical region.		SNV	COL6A3,missense_variant,p.Leu1723Phe,ENST00000295550,NM_004369.3;COL6A3,missense_variant,p.Leu1522Phe,ENST00000347401,;COL6A3,missense_variant,p.Leu1517Phe,ENST00000353578,NM_057167.3;COL6A3,missense_variant,p.Leu1523Phe,ENST00000346358,;COL6A3,missense_variant,p.Leu1517Phe,ENST00000409809,;COL6A3,missense_variant,p.Leu1116Phe,ENST00000472056,NM_057166.4;COL6A3,downstream_gene_variant,,ENST00000392004,NM_057165.4;COL6A3,downstream_gene_variant,,ENST00000392003,NM_057164.4;	uc002vwl.2	c.5167C>T	5620/10749	2	2			c.5167C>T						2	SNP	c.(5167-5169)CTT>TTT	25	25			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18	Broad	alpha 3 type VI collagen isoform 1 precursor			238275663		0.547	ENSG00000163359	3638	g.chr2:238275663G>A	axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity							76.85306	KEEP	15	13	-1	37	25	15	13	-1	78.573605	37	25	0.337838	1	0	0	0	0	1	0	0	0	--	--		0	A			COL6A3_uc002vwo.2_Missense_Mutation_p.L1517F|COL6A3_uc010znj.1_Missense_Mutation_p.L1116F	4	GBM-02-0055-TP	p.L1723F	G	AGGTGCTCAAGGCCCACCTTA	NM_004369	NP_004360	238275663	P12111	CO6A3_HUMAN	0		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	11	5452	-	A	A		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	Missense_Mutation	1723			VWFA 9.|Nonhelical region.			
COL6A3	1293	broad.mit.edu	GRCh37	2	238253186	238253186	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0171-01	TCGA-06-0171-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295550.4:c.7475C>T	p.Ser2492Leu	p.S2492L	ENST00000295550	NM_004369.3	2492	tCg/tTg	0			1			A	S/L	uc002vwl.2	protein_coding	YES	CCDS33412.1			7475/9534									ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18	c.(7474-7476)TCG>TTG			Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF83,SMART_domains:SM00327,Superfamily_domains:SSF53300	alpha 3 type VI collagen isoform 1 precursor				ENSP00000295550		36/44	8.24E-06	9.61E-05							rs754480145,COSM1018335	36/44	.		ENST00000295550	Transcript	1		axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	ENSG00000163359	g.chr2:238253186G>A	2213			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=CO6A3_HUMAN&rb=2402&re=2581&var=S2492L	NA	getma.org/?cm=var&var=hg19,2,238253186,G,A&fts=all	S2492L	--	--	1																																		COL6A3_uc002vwo.2_Missense_Mutation_p.S2286L|COL6A3_uc010znj.1_Missense_Mutation_p.S1885L|COL6A3_uc002vwj.2_5'Flank|COL6A3_uc002vwp.1_Missense_Mutation_p.S313L	0,1	1		unknown(0)	p.S2492L	NM_004369	NP_004360			0,1	CO6A3_HUMAN	COL6A3	HGNC	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	Q8N4Z1_HUMAN,D9ZGF2_HUMAN		36	7760	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	UPI0000456F39	2492			VWFA 11.|Nonhelical region.		SNV	COL6A3,missense_variant,p.Ser2492Leu,ENST00000295550,NM_004369.3;COL6A3,missense_variant,p.Ser2291Leu,ENST00000347401,;COL6A3,missense_variant,p.Ser2286Leu,ENST00000353578,NM_057167.3;COL6A3,missense_variant,p.Ser2292Leu,ENST00000346358,;COL6A3,missense_variant,p.Ser2286Leu,ENST00000409809,;COL6A3,missense_variant,p.Ser1885Leu,ENST00000472056,NM_057166.4;COL6A3,non_coding_transcript_exon_variant,,ENST00000491769,;COL6A3,upstream_gene_variant,,ENST00000468792,;	uc002vwl.2	c.7475C>T	7928/10749	2	2			c.7475C>T						2	SNP	c.(7474-7476)TCG>TTG	29	29			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18	Broad	alpha 3 type VI collagen isoform 1 precursor			238253186		0.507	ENSG00000163359	3638	g.chr2:238253186G>A	axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity							172.135937	KEEP	28	38	-1	61	75	28	38	-1	176.817429	61	75	0.32967	1	0	0	0	0	1	0	0	0	--	--		0	A			COL6A3_uc002vwo.2_Missense_Mutation_p.S2286L|COL6A3_uc010znj.1_Missense_Mutation_p.S1885L|COL6A3_uc002vwj.2_5'Flank|COL6A3_uc002vwp.1_Missense_Mutation_p.S313L	35	GBM-06-0171-TP	p.S2492L	G	GGCCACAAACGACATGGCAGT	NM_004369	NP_004360	238253186	P12111	CO6A3_HUMAN	0		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	36	7760	-	A	A		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	Missense_Mutation	2492			VWFA 11.|Nonhelical region.			
COL6A3	1293	broad.mit.edu	GRCh37	2	238283533	238283533	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0185-01	TCGA-06-0185-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295550.4:c.3201G>A	p.Val1067=	p.V1067=	ENST00000295550	NM_004369.3	1067	gtG/gtA	0			1			T	V	uc002vwl.2	protein_coding	YES	CCDS33412.1			3201/9534									ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18	c.(3199-3201)GTG>GTA			Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF83,SMART_domains:SM00327,Superfamily_domains:SSF53300	alpha 3 type VI collagen isoform 1 precursor				ENSP00000295550		Aug-44									COSM3407715,COSM3407716	Aug-44	.		ENST00000295550	Transcript	1		axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	ENSG00000163359	g.chr2:238283533C>T	2213			LOW								--	--	1																																		COL6A3_uc002vwo.2_Silent_p.V861V|COL6A3_uc010znj.1_Silent_p.V460V|COL6A3_uc002vwq.2_Silent_p.V861V|COL6A3_uc002vwr.2_Silent_p.V660V	1,1	1			p.V1067V	NM_004369	NP_004360			1,1	CO6A3_HUMAN	COL6A3	HGNC	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	Q8N4Z1_HUMAN,D9ZGF2_HUMAN		8	3486	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	UPI0000456F39	1067			Nonhelical region.|VWFA 6.		SNV	COL6A3,synonymous_variant,p.=,ENST00000295550,NM_004369.3;COL6A3,synonymous_variant,p.=,ENST00000347401,;COL6A3,synonymous_variant,p.=,ENST00000353578,NM_057167.3;COL6A3,synonymous_variant,p.=,ENST00000346358,;COL6A3,synonymous_variant,p.=,ENST00000409809,;COL6A3,synonymous_variant,p.=,ENST00000472056,NM_057166.4;COL6A3,synonymous_variant,p.=,ENST00000392004,NM_057165.4;COL6A3,synonymous_variant,p.=,ENST00000392003,NM_057164.4;COL6A3,downstream_gene_variant,,ENST00000433762,;	uc002vwl.2	c.3201G>A	3654/10749	1	1			c.3201G>A						2	SNP	c.(3199-3201)GTG>GTA	6	6			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18	Broad	alpha 3 type VI collagen isoform 1 precursor			238283533		0.602	ENSG00000163359	3638	g.chr2:238283533C>T	axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity							12.053867	KEEP	6	9	-1	54	45	6	9	-1	25.865359	54	45	0.115789	1	0	0	0	0	0	0	1	0	--	--		0	T			COL6A3_uc002vwo.2_Silent_p.V861V|COL6A3_uc010znj.1_Silent_p.V460V|COL6A3_uc002vwq.2_Silent_p.V861V|COL6A3_uc002vwr.2_Silent_p.V660V	40	GBM-06-0185-TP	p.V1067V	C	GCACCACGGCCACGCGGACCC	NM_004369	NP_004360	238283533	P12111	CO6A3_HUMAN	0		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	8	3486	-	T	T		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	Silent	1067			Nonhelical region.|VWFA 6.			
COL6A3	1293	broad.mit.edu	GRCh37	2	238283454	238283454	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295550.4:c.3280G>A	p.Ala1094Thr	p.A1094T	ENST00000295550	NM_004369.3	1094	Gct/Act	0	A:0		1			T	A/T	uc002vwl.2	protein_coding	YES	CCDS33412.1			3280/9534									ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18	c.(3280-3282)GCT>ACT			Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF83,SMART_domains:SM00327,Superfamily_domains:SSF53300	alpha 3 type VI collagen isoform 1 precursor			A:0.0001	ENSP00000295550		Aug-44	1.65E-05	9.66E-05						6.06E-05	rs369460632,COSM2151425,COSM2151426	Aug-44	.		ENST00000295550	Transcript	1		axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	ENSG00000163359	g.chr2:238283454C>T	2213			MODERATE		2.935	medium	getma.org/?cm=msa&ty=f&p=CO6A3_HUMAN&rb=1029&re=1203&var=A1094T	getma.org/pdb.php?prot=CO6A3_HUMAN&from=1029&to=1203&var=A1094T	getma.org/?cm=var&var=hg19,2,238283454,C,T&fts=all	A1094T	--	--	1																																		COL6A3_uc002vwo.2_Missense_Mutation_p.A888T|COL6A3_uc010znj.1_Missense_Mutation_p.A487T|COL6A3_uc002vwq.2_Missense_Mutation_p.A888T|COL6A3_uc002vwr.2_Missense_Mutation_p.A687T	0,1,1	1		probably_damaging(0.997)	p.A1094T	NM_004369	NP_004360			0,1,1	CO6A3_HUMAN	COL6A3	HGNC	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	Q8N4Z1_HUMAN,D9ZGF2_HUMAN		8	3565	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	UPI0000456F39	1094			Nonhelical region.|VWFA 6.		SNV	COL6A3,missense_variant,p.Ala1094Thr,ENST00000295550,NM_004369.3;COL6A3,missense_variant,p.Ala893Thr,ENST00000347401,;COL6A3,missense_variant,p.Ala888Thr,ENST00000353578,NM_057167.3;COL6A3,missense_variant,p.Ala894Thr,ENST00000346358,;COL6A3,missense_variant,p.Ala888Thr,ENST00000409809,;COL6A3,missense_variant,p.Ala487Thr,ENST00000472056,NM_057166.4;COL6A3,missense_variant,p.Ala888Thr,ENST00000392004,NM_057165.4;COL6A3,missense_variant,p.Ala687Thr,ENST00000392003,NM_057164.4;COL6A3,downstream_gene_variant,,ENST00000433762,;	uc002vwl.2	c.3280G>A	3733/10749	2	2			c.3280G>A						2	SNP	c.(3280-3282)GCT>ACT	45	45			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18	Broad	alpha 3 type VI collagen isoform 1 precursor			238283454		0.652	ENSG00000163359	3638	g.chr2:238283454C>T	axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity							19.825731	KEEP	9	5	-1	25	26	9	5	-1	24.684169	25	26	0.209677	1	0	0	0	0	1	0	0	0	--	--		0	T			COL6A3_uc002vwo.2_Missense_Mutation_p.A888T|COL6A3_uc010znj.1_Missense_Mutation_p.A487T|COL6A3_uc002vwq.2_Missense_Mutation_p.A888T|COL6A3_uc002vwr.2_Missense_Mutation_p.A687T	62	GBM-06-0649-TP	p.A1094T	C	TGGCGGACAGCGTTGACGACG	NM_004369	NP_004360	238283454	P12111	CO6A3_HUMAN	0		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	8	3565	-	T	T		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	Missense_Mutation	1094			Nonhelical region.|VWFA 6.			
COL6A3	1293	broad.mit.edu	GRCh37	2	238289831	238289831	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295550.4:c.1624G>A	p.Gly542Ser	p.G542S	ENST00000295550	NM_004369.3	542	Ggc/Agc	0			1			T	G/S	uc002vwl.2	protein_coding	YES	CCDS33412.1			1624/9534									ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18	c.(1624-1626)GGC>AGC			Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF83,SMART_domains:SM00327,Superfamily_domains:SSF53300	alpha 3 type VI collagen isoform 1 precursor				ENSP00000295550		May-44	3.29E-05	9.67E-05		0.000116		1.50E-05		6.06E-05	rs756045079,COSM1531301,COSM1531302	May-44	.		ENST00000295550	Transcript	1		axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	ENSG00000163359	g.chr2:238289831C>T	2213			MODERATE		3.54	high	getma.org/?cm=msa&ty=f&p=CO6A3_HUMAN&rb=445&re=616&var=G542S	getma.org/pdb.php?prot=CO6A3_HUMAN&from=445&to=616&var=G542S	getma.org/?cm=var&var=hg19,2,238289831,C,T&fts=all	G542S	--	--	1																																		COL6A3_uc002vwo.2_Missense_Mutation_p.G336S|COL6A3_uc010znj.1_Missense_Mutation_p.G135S|COL6A3_uc002vwq.2_Missense_Mutation_p.G336S|COL6A3_uc002vwr.2_Missense_Mutation_p.G135S|COL6A3_uc010znk.1_Missense_Mutation_p.G542S	0,1,1	1		probably_damaging(1)	p.G542S	NM_004369	NP_004360			0,1,1	CO6A3_HUMAN	COL6A3	HGNC	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	Q8N4Z1_HUMAN,D9ZGF2_HUMAN		5	1909	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	UPI0000456F39	542			VWFA 3.|Nonhelical region.		SNV	COL6A3,missense_variant,p.Gly542Ser,ENST00000295550,NM_004369.3;COL6A3,missense_variant,p.Gly341Ser,ENST00000347401,;COL6A3,missense_variant,p.Gly336Ser,ENST00000353578,NM_057167.3;COL6A3,missense_variant,p.Gly542Ser,ENST00000346358,;COL6A3,missense_variant,p.Gly336Ser,ENST00000409809,;COL6A3,missense_variant,p.Gly135Ser,ENST00000472056,NM_057166.4;COL6A3,missense_variant,p.Gly336Ser,ENST00000392004,NM_057165.4;COL6A3,missense_variant,p.Gly135Ser,ENST00000392003,NM_057164.4;COL6A3,missense_variant,p.Gly542Ser,ENST00000433762,;	uc002vwl.2	c.1624G>A	2077/10749	2	2			c.1624G>A						2	SNP	c.(1624-1626)GGC>AGC	30	30			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18	Broad	alpha 3 type VI collagen isoform 1 precursor			238289831		0.557	ENSG00000163359	3638	g.chr2:238289831C>T	axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity							211.513708	KEEP	38	35	-1	34	56	38	35	-1	211.80107	34	56	0.452703	1	0	0	0	0	1	0	0	0	--	--		0	T			COL6A3_uc002vwo.2_Missense_Mutation_p.G336S|COL6A3_uc010znj.1_Missense_Mutation_p.G135S|COL6A3_uc002vwq.2_Missense_Mutation_p.G336S|COL6A3_uc002vwr.2_Missense_Mutation_p.G135S|COL6A3_uc010znk.1_Missense_Mutation_p.G542S	65	GBM-06-0743-TP	p.G542S	C	GCCCGGTAGCCGGCTGAACTC	NM_004369	NP_004360	238289831	P12111	CO6A3_HUMAN	0		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	5	1909	-	T	T		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	Missense_Mutation	542			VWFA 3.|Nonhelical region.			
COL6A3	1293	broad.mit.edu	GRCh37	2	238245018	238245018	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0881-01	TCGA-06-0881-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295550.4:c.8725G>A	p.Ala2909Thr	p.A2909T	ENST00000295550	NM_004369.3	2909	Gct/Act	0		T:0	1	T:0.0014		T	A/T	uc002vwl.2	protein_coding	YES	CCDS33412.1			8725/9534									ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18	c.(8725-8727)GCT>ACT			Low_complexity_(Seg):seg	alpha 3 type VI collagen isoform 1 precursor		T:0		ENSP00000295550	T:0	40/44	5.77E-05	0.00029	8.64E-05			4.50E-05			rs201917052,COSM3391591	40/44	.		ENST00000295550	Transcript	1	T:0.0002	axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	ENSG00000163359	g.chr2:238245018C>T	2213			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=CO6A3_HUMAN&rb=2811&re=3010&var=A2909T	NA	getma.org/?cm=var&var=hg19,2,238245018,C,T&fts=all	A2909T	--	--	1																																		COL6A3_uc002vwo.2_Missense_Mutation_p.A2703T|COL6A3_uc010znj.1_Missense_Mutation_p.A2302T|COL6A3_uc002vwj.2_Missense_Mutation_p.A290T	0,1	1		unknown(0)	p.A2909T	NM_004369	NP_004360	T:0		0,1	CO6A3_HUMAN	COL6A3	HGNC	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	Q8N4Z1_HUMAN,D9ZGF2_HUMAN		40	9010	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	UPI0000456F39	2909			Nonhelical region.|Ala-rich.		SNV	COL6A3,missense_variant,p.Ala2909Thr,ENST00000295550,NM_004369.3;COL6A3,missense_variant,p.Ala2708Thr,ENST00000347401,;COL6A3,missense_variant,p.Ala2703Thr,ENST00000353578,NM_057167.3;COL6A3,missense_variant,p.Ala2709Thr,ENST00000346358,;COL6A3,missense_variant,p.Ala2703Thr,ENST00000409809,;COL6A3,missense_variant,p.Ala2302Thr,ENST00000472056,NM_057166.4;COL6A3,upstream_gene_variant,,ENST00000493608,;COL6A3,non_coding_transcript_exon_variant,,ENST00000491769,;COL6A3,downstream_gene_variant,,ENST00000468792,;	uc002vwl.2	c.8725G>A	9178/10749	2	2			c.8725G>A						2	SNP	c.(8725-8727)GCT>ACT	22	22			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18	Broad	alpha 3 type VI collagen isoform 1 precursor			238245018		0.582	ENSG00000163359	3638	g.chr2:238245018C>T	axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity							15.264368	KEEP	18	9	-1	168	101	18	9	-1	42.92812	168	101	0.098837	1	0	0	0	0	1	0	0	0	--	--		0	T			COL6A3_uc002vwo.2_Missense_Mutation_p.A2703T|COL6A3_uc010znj.1_Missense_Mutation_p.A2302T|COL6A3_uc002vwj.2_Missense_Mutation_p.A290T	76	GBM-06-0881-TP	p.A2909T	C	GGCTTTGCAGCGGCTGGCTTC	NM_004369	NP_004360	238245018	P12111	CO6A3_HUMAN	0		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	40	9010	-	T	T		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	Missense_Mutation	2909			Nonhelical region.|Ala-rich.			
COL6A3	1293	broad.mit.edu	GRCh37	2	238275697	238275697	+	stop_gained	Nonsense_Mutation	SNP	G	G	C			TCGA-06-1804-01	TCGA-06-1804-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295550.4:c.5133C>G	p.Tyr1711Ter	p.Y1711*	ENST00000295550	NM_004369.3	1711	taC/taG	0			1			C	Y/*	uc002vwl.2	protein_coding	YES	CCDS33412.1			5133/9534									ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18	c.(5131-5133)TAC>TAG			Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF83,SMART_domains:SM00327,Superfamily_domains:SSF53300	alpha 3 type VI collagen isoform 1 precursor				ENSP00000295550		Nov-44									COSM2152520	Nov-44	.		ENST00000295550	Transcript	1		axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	ENSG00000163359	g.chr2:238275697G>C	2213			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,238275697,G,C&fts=all	Y1711*	--	--	1																																		COL6A3_uc002vwo.2_Nonsense_Mutation_p.Y1505*|COL6A3_uc010znj.1_Nonsense_Mutation_p.Y1104*	1	1			p.Y1711*	NM_004369	NP_004360			1	CO6A3_HUMAN	COL6A3	HGNC	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	Q8N4Z1_HUMAN,D9ZGF2_HUMAN		11	5418	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	UPI0000456F39	1711			VWFA 9.|Nonhelical region.		SNV	COL6A3,stop_gained,p.Tyr1711Ter,ENST00000295550,NM_004369.3;COL6A3,stop_gained,p.Tyr1510Ter,ENST00000347401,;COL6A3,stop_gained,p.Tyr1505Ter,ENST00000353578,NM_057167.3;COL6A3,stop_gained,p.Tyr1511Ter,ENST00000346358,;COL6A3,stop_gained,p.Tyr1505Ter,ENST00000409809,;COL6A3,stop_gained,p.Tyr1104Ter,ENST00000472056,NM_057166.4;COL6A3,downstream_gene_variant,,ENST00000392004,NM_057165.4;COL6A3,downstream_gene_variant,,ENST00000392003,NM_057164.4;	uc002vwl.2	c.5133C>G	5586/10749	5	4			c.5133C>G						2	SNP	c.(5131-5133)TAC>TAG	34	34			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18	Broad	alpha 3 type VI collagen isoform 1 precursor			238275697		0.557	ENSG00000163359	3638	g.chr2:238275697G>C	axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity							77.908749	KEEP	13	14	-1	22	22	13	14	-1	78.917272	22	22	0.365079	1	0	0	0	0	0	1	0	0	--	--		0	C			COL6A3_uc002vwo.2_Nonsense_Mutation_p.Y1505*|COL6A3_uc010znj.1_Nonsense_Mutation_p.Y1104*	79	GBM-06-1804-TP	p.Y1711*	G	TTCCCCCTTTGTAGACCACTT	NM_004369	NP_004360	238275697	P12111	CO6A3_HUMAN	0		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	11	5418	-	C	C		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	Nonsense_Mutation	1711			VWFA 9.|Nonhelical region.			
COL6A3	0	broad.mit.edu	GRCh37	2	238280769	238280769	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0618-01	TCGA-12-0618-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295550.4:c.3891C>T	p.Asn1297=	p.N1297=	ENST00000295550	NM_004369.3	1297	aaC/aaT	0		A:0	1	A:0		A	N	uc002vwl.2	protein_coding	YES	CCDS33412.1			3891/9534								p.N1297N(1)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18	c.(3889-3891)AAC>AAT			Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF83,SMART_domains:SM00327,Superfamily_domains:SSF53300	alpha 3 type VI collagen isoform 1 precursor		A:0		ENSP00000295550	A:0.001	Sep-44	4.12E-05			0.000116	0.000152	1.51E-05	0.00111	6.06E-05	rs200722316,COSM42848,COSM2153596	Sep-44	.		ENST00000295550	Transcript	1	A:0.0002	axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	ENSG00000163359	g.chr2:238280769G>A	2213			LOW								--	--	1																																		COL6A3_uc002vwo.2_Silent_p.N1091N|COL6A3_uc010znj.1_Silent_p.N690N|COL6A3_uc002vwq.2_Silent_p.N1091N|COL6A3_uc002vwr.2_Silent_p.N890N	0,1,1	1			p.N1297N	NM_004369	NP_004360	A:0		0,1,1	CO6A3_HUMAN	COL6A3	HGNC	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	Q8N4Z1_HUMAN,D9ZGF2_HUMAN		9	4176	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	UPI0000456F39	1297			VWFA 7.|Nonhelical region.		SNV	COL6A3,synonymous_variant,p.=,ENST00000295550,NM_004369.3;COL6A3,synonymous_variant,p.=,ENST00000347401,;COL6A3,synonymous_variant,p.=,ENST00000353578,NM_057167.3;COL6A3,synonymous_variant,p.=,ENST00000346358,;COL6A3,synonymous_variant,p.=,ENST00000409809,;COL6A3,synonymous_variant,p.=,ENST00000472056,NM_057166.4;COL6A3,synonymous_variant,p.=,ENST00000392004,NM_057165.4;COL6A3,synonymous_variant,p.=,ENST00000392003,NM_057164.4;COL6A3,downstream_gene_variant,,ENST00000433762,;	uc002vwl.2	c.3891C>T	4344/10749	2	2			c.3891C>T						2	SNP	c.(3889-3891)AAC>AAT	29	29		p.N1297N(1)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18	Broad	alpha 3 type VI collagen isoform 1 precursor			238280769		0.617	ENSG00000163359	3638	g.chr2:238280769G>A	axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity							142.412321	KEEP	29	34	-1	47	51	29	34	-1	144.022683	47	51	0.381679	1	0	0	0	0	0	0	1	0	--	--		0	A			COL6A3_uc002vwo.2_Silent_p.N1091N|COL6A3_uc010znj.1_Silent_p.N690N|COL6A3_uc002vwq.2_Silent_p.N1091N|COL6A3_uc002vwr.2_Silent_p.N890N	119	GBM-12-0618-TP	p.N1297N	G	GCTGCACCGCGTTCTGCACTT	NM_004369	NP_004360	238280769	P12111	CO6A3_HUMAN	0		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	9	4176	-	A	A		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	Silent	1297			VWFA 7.|Nonhelical region.			
COL6A3	0	broad.mit.edu	GRCh37	2	238275874	238275874	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295550.4:c.4956G>A	p.Arg1652=	p.R1652=	ENST00000295550	NM_004369.3	1652	agG/agA	0			1			T	R	uc002vwl.2	protein_coding	YES	CCDS33412.1			4956/9534									ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18	c.(4954-4956)AGG>AGA			Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF83,SMART_domains:SM00327,Superfamily_domains:SSF53300	alpha 3 type VI collagen isoform 1 precursor				ENSP00000295550		Nov-44									COSM3407714	Nov-44	.		ENST00000295550	Transcript	1		axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	ENSG00000163359	g.chr2:238275874C>T	2213			LOW								--	--	1																																		COL6A3_uc002vwo.2_Silent_p.R1446R|COL6A3_uc010znj.1_Silent_p.R1045R	1	1			p.R1652R	NM_004369	NP_004360			1	CO6A3_HUMAN	COL6A3	HGNC	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	Q8N4Z1_HUMAN,D9ZGF2_HUMAN		11	5241	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	UPI0000456F39	1652			VWFA 9.|Nonhelical region.		SNV	COL6A3,synonymous_variant,p.=,ENST00000295550,NM_004369.3;COL6A3,synonymous_variant,p.=,ENST00000347401,;COL6A3,synonymous_variant,p.=,ENST00000353578,NM_057167.3;COL6A3,synonymous_variant,p.=,ENST00000346358,;COL6A3,synonymous_variant,p.=,ENST00000409809,;COL6A3,synonymous_variant,p.=,ENST00000472056,NM_057166.4;COL6A3,downstream_gene_variant,,ENST00000392004,NM_057165.4;COL6A3,downstream_gene_variant,,ENST00000392003,NM_057164.4;	uc002vwl.2	c.4956G>A	5409/10749	1	1			c.4956G>A						2	SNP	c.(4954-4956)AGG>AGA	12	12			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18	Broad	alpha 3 type VI collagen isoform 1 precursor			238275874		0.433	ENSG00000163359	3638	g.chr2:238275874C>T	axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity							-14.516058	KEEP	2	1	-1	36	55	2	1	-1	6.53833	36	55	0.033708	1	0	0	0	0	0	0	1	0	--	--		0	T			COL6A3_uc002vwo.2_Silent_p.R1446R|COL6A3_uc010znj.1_Silent_p.R1045R	138	GBM-14-0813-TP	p.R1652R	C	GGAAACTGTCCCTCCTGAAGT	NM_004369	NP_004360	238275874	P12111	CO6A3_HUMAN	0		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	11	5241	-	T	T		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	Silent	1652			VWFA 9.|Nonhelical region.			
COL6A3	0	broad.mit.edu	GRCh37	2	238277593	238277593	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-2554-01	TCGA-14-2554-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295550.4:c.4513C>T	p.Arg1505Cys	p.R1505C	ENST00000295550	NM_004369.3	1505	Cgc/Tgc	0			1			A	R/C	uc002vwl.2	protein_coding	YES	CCDS33412.1			4513/9534									ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18	c.(4513-4515)CGC>TGC			Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF83,SMART_domains:SM00327,Superfamily_domains:SSF53300	alpha 3 type VI collagen isoform 1 precursor				ENSP00000295550		Oct-44	2.47E-05					4.50E-05			rs778816180,COSM1614570	Oct-44	.		ENST00000295550	Transcript	1		axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	ENSG00000163359	g.chr2:238277593G>A	2213			MODERATE		3.18	medium	getma.org/?cm=msa&ty=f&p=CO6A3_HUMAN&rb=1436&re=1609&var=R1505C	getma.org/pdb.php?prot=CO6A3_HUMAN&from=1436&to=1609&var=R1505C	getma.org/?cm=var&var=hg19,2,238277593,G,A&fts=all	R1505C	--	--	1																																		COL6A3_uc002vwo.2_Missense_Mutation_p.R1299C|COL6A3_uc010znj.1_Missense_Mutation_p.R898C	0,1	1		probably_damaging(0.993)	p.R1505C	NM_004369	NP_004360			0,1	CO6A3_HUMAN	COL6A3	HGNC	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	Q8N4Z1_HUMAN,D9ZGF2_HUMAN		10	4798	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	UPI0000456F39	1505			VWFA 8.|Nonhelical region.		SNV	COL6A3,missense_variant,p.Arg1505Cys,ENST00000295550,NM_004369.3;COL6A3,missense_variant,p.Arg1304Cys,ENST00000347401,;COL6A3,missense_variant,p.Arg1299Cys,ENST00000353578,NM_057167.3;COL6A3,missense_variant,p.Arg1305Cys,ENST00000346358,;COL6A3,missense_variant,p.Arg1299Cys,ENST00000409809,;COL6A3,missense_variant,p.Arg898Cys,ENST00000472056,NM_057166.4;COL6A3,downstream_gene_variant,,ENST00000392004,NM_057165.4;COL6A3,downstream_gene_variant,,ENST00000392003,NM_057164.4;	uc002vwl.2	c.4513C>T	4966/10749	2	2			c.4513C>T						2	SNP	c.(4513-4515)CGC>TGC	47	47			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18	Broad	alpha 3 type VI collagen isoform 1 precursor			238277593		0.537	ENSG00000163359	3638	g.chr2:238277593G>A	axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity							81.18593	KEEP	15	17	-1	34	39	15	17	-1	83.603593	34	39	0.329787	1	0	0	0	0	1	0	0	0	--	--		0	A			COL6A3_uc002vwo.2_Missense_Mutation_p.R1299C|COL6A3_uc010znj.1_Missense_Mutation_p.R898C	150	GBM-14-2554-TP	p.R1505C	G	AGCCTCAGGCGCCGTATGGCG	NM_004369	NP_004360	238277593	P12111	CO6A3_HUMAN	0		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	10	4798	-	A	A		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	Missense_Mutation	1505			VWFA 8.|Nonhelical region.			
COL6A3	0	broad.mit.edu	GRCh37	2	238275681	238275681	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01	TCGA-19-5951-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295550.4:c.5149G>A	p.Ala1717Thr	p.A1717T	ENST00000295550	NM_004369.3	1717	Gcc/Acc	0			1			T	A/T	uc002vwl.2	protein_coding	YES	CCDS33412.1			5149/9534									ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18	c.(5149-5151)GCC>ACC			Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF83,SMART_domains:SM00327,Superfamily_domains:SSF53300	alpha 3 type VI collagen isoform 1 precursor				ENSP00000295550		Nov-44	8.24E-06							6.07E-05	rs376135795,COSM2156588	Nov-44	.		ENST00000295550	Transcript	1		axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	ENSG00000163359	g.chr2:238275681C>T	2213			MODERATE		-0.12	neutral	getma.org/?cm=msa&ty=f&p=CO6A3_HUMAN&rb=1639&re=1816&var=A1717T	getma.org/pdb.php?prot=CO6A3_HUMAN&from=1639&to=1816&var=A1717T	getma.org/?cm=var&var=hg19,2,238275681,C,T&fts=all	A1717T	--	--	1																																		COL6A3_uc002vwo.2_Missense_Mutation_p.A1511T|COL6A3_uc010znj.1_Missense_Mutation_p.A1110T	0,1	1		probably_damaging(0.994)	p.A1717T	NM_004369	NP_004360			0,1	CO6A3_HUMAN	COL6A3	HGNC	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	Q8N4Z1_HUMAN,D9ZGF2_HUMAN		11	5434	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	UPI0000456F39	1717			VWFA 9.|Nonhelical region.		SNV	COL6A3,missense_variant,p.Ala1717Thr,ENST00000295550,NM_004369.3;COL6A3,missense_variant,p.Ala1516Thr,ENST00000347401,;COL6A3,missense_variant,p.Ala1511Thr,ENST00000353578,NM_057167.3;COL6A3,missense_variant,p.Ala1517Thr,ENST00000346358,;COL6A3,missense_variant,p.Ala1511Thr,ENST00000409809,;COL6A3,missense_variant,p.Ala1110Thr,ENST00000472056,NM_057166.4;COL6A3,downstream_gene_variant,,ENST00000392004,NM_057165.4;COL6A3,downstream_gene_variant,,ENST00000392003,NM_057164.4;	uc002vwl.2	c.5149G>A	5602/10749	2	2			c.5149G>A						2	SNP	c.(5149-5151)GCC>ACC	41	41			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18	Broad	alpha 3 type VI collagen isoform 1 precursor			238275681		0.542	ENSG00000163359	3638	g.chr2:238275681C>T	axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity							53.034166	KEEP	9	12	-1	16	15	9	12	-1	53.512495	16	15	0.395833	1	0	0	0	0	1	0	0	0	--	--		0	T			COL6A3_uc002vwo.2_Missense_Mutation_p.A1511T|COL6A3_uc010znj.1_Missense_Mutation_p.A1110T	171	GBM-19-5951-TP	p.A1717T	C	TTAGTGTTGGCGTGTCTTCCC	NM_004369	NP_004360	238275681	P12111	CO6A3_HUMAN	0		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	11	5434	-	T	T		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	Missense_Mutation	1717			VWFA 9.|Nonhelical region.			
COL6A3	0	broad.mit.edu	GRCh37	2	238270475	238270475	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G			TCGA-26-5136-01	TCGA-26-5136-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295550.4:c.6064-1G>C		p.X2022_splice	ENST00000295550	NM_004369.3			0			1			G		uc002vwl.2	protein_coding	YES	CCDS33412.1			6064/9534									ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18	c.e15-1				alpha 3 type VI collagen isoform 1 precursor				ENSP00000295550											COSM3407711		.		ENST00000295550	Transcript	1		axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	ENSG00000163359	g.chr2:238270475C>G	2213			HIGH	14/43							--	--	1																																		COL6A3_uc002vwo.2_Splice_Site_p.D1816_splice|COL6A3_uc010znj.1_Splice_Site_p.D1415_splice	1	1			p.D2022_splice	NM_004369	NP_004360			1	CO6A3_HUMAN	COL6A3	HGNC	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	Q8N4Z1_HUMAN,D9ZGF2_HUMAN		15	6349	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	UPI0000456F39						SNV	COL6A3,splice_acceptor_variant,,ENST00000295550,NM_004369.3;COL6A3,splice_acceptor_variant,,ENST00000347401,;COL6A3,splice_acceptor_variant,,ENST00000353578,NM_057167.3;COL6A3,splice_acceptor_variant,,ENST00000346358,;COL6A3,splice_acceptor_variant,,ENST00000409809,;COL6A3,splice_acceptor_variant,,ENST00000472056,NM_057166.4;COL6A3,upstream_gene_variant,,ENST00000493475,;	uc002vwl.2	c.6064_splice	-/10749	5	4			c.6064_splice						2	SNP	c.e15-1	28	28			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18	Broad	alpha 3 type VI collagen isoform 1 precursor			238270475		0.527	ENSG00000163359	3638	g.chr2:238270475C>G	axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity							217.370268	KEEP	38	37	-1	57	72	38	37	-1	219.955209	57	72	0.372222	1	0	0	0	0	0	0	0	1	--	--		0	G			COL6A3_uc002vwo.2_Splice_Site_p.D1816_splice|COL6A3_uc010znj.1_Splice_Site_p.D1415_splice	185	GBM-26-5136-TP	p.D2022_splice	C	CAATGTTGTCCTACCGAAAGG	NM_004369	NP_004360	238270475	P12111	CO6A3_HUMAN	0		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	15	6349	-	G	G		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	Splice_Site							
COL6A3	0	broad.mit.edu	GRCh37	2	238275630	238275630	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-27-1831-01	TCGA-27-1831-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295550.4:c.5200G>T	p.Glu1734Ter	p.E1734*	ENST00000295550	NM_004369.3	1734	Gag/Tag	0			1			A	E/*	uc002vwl.2	protein_coding	YES	CCDS33412.1			5200/9534									ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18	c.(5200-5202)GAG>TAG			Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF83,SMART_domains:SM00327,Superfamily_domains:SSF53300	alpha 3 type VI collagen isoform 1 precursor				ENSP00000295550		Nov-44									COSM3407713	Nov-44	.		ENST00000295550	Transcript	1		axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	ENSG00000163359	g.chr2:238275630C>A	2213			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,238275630,C,A&fts=all	E1734*	--	--	1																																		COL6A3_uc002vwo.2_Nonsense_Mutation_p.E1528*|COL6A3_uc010znj.1_Nonsense_Mutation_p.E1127*	1	1			p.E1734*	NM_004369	NP_004360			1	CO6A3_HUMAN	COL6A3	HGNC	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	Q8N4Z1_HUMAN,D9ZGF2_HUMAN		11	5485	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	UPI0000456F39	1734			VWFA 9.|Nonhelical region.		SNV	COL6A3,stop_gained,p.Glu1734Ter,ENST00000295550,NM_004369.3;COL6A3,stop_gained,p.Glu1533Ter,ENST00000347401,;COL6A3,stop_gained,p.Glu1528Ter,ENST00000353578,NM_057167.3;COL6A3,stop_gained,p.Glu1534Ter,ENST00000346358,;COL6A3,stop_gained,p.Glu1528Ter,ENST00000409809,;COL6A3,stop_gained,p.Glu1127Ter,ENST00000472056,NM_057166.4;COL6A3,downstream_gene_variant,,ENST00000392004,NM_057165.4;COL6A3,downstream_gene_variant,,ENST00000392003,NM_057164.4;	uc002vwl.2	c.5200G>T	5653/10749	5	2			c.5200G>T						2	SNP	c.(5200-5202)GAG>TAG	40	40			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18	Broad	alpha 3 type VI collagen isoform 1 precursor			238275630		0.572	ENSG00000163359	3638	g.chr2:238275630C>A	axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity							-5.024474	KEEP	2	1	0.333333333	31	46	2	1	0.333333333	6.477711	31	46	0.054545	1	0	0	0	0	0	1	0	0	--	--		0	A			COL6A3_uc002vwo.2_Nonsense_Mutation_p.E1528*|COL6A3_uc010znj.1_Nonsense_Mutation_p.E1127*	190	GBM-27-1831-TP	p.E1734*	C	CTGCCTGCCTCAGGCACAAAG	NM_004369	NP_004360	238275630	P12111	CO6A3_HUMAN	0		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	11	5485	-	A	A		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	Nonsense_Mutation	1734			VWFA 9.|Nonhelical region.			
COL6A3	0	broad.mit.edu	GRCh37	2	238305417	238305417	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-41-3915-01	TCGA-41-3915-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295550.4:c.44T>C	p.Leu15Pro	p.L15P	ENST00000295550	NM_004369.3	15	cTc/cCc	0			1			G	L/P	uc002vwl.2	protein_coding	YES	CCDS33412.1			44/9534									ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18	c.(43-45)CTC>CCC			hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF83,Cleavage_site_(Signalp):SignalP-noTM,Superfamily_domains:SSF53300	alpha 3 type VI collagen isoform 1 precursor				ENSP00000295550		Feb-44									COSM3407720,COSM3407721	Feb-44	.		ENST00000295550	Transcript	1		axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	ENSG00000163359	g.chr2:238305417A>G	2213			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=CO6A3_HUMAN&rb=1&re=38&var=L15P	NA	getma.org/?cm=var&var=hg19,2,238305417,A,G&fts=all	L15P	--	--	1																																		COL6A3_uc002vwo.2_Missense_Mutation_p.L15P|COL6A3_uc010znj.1_Missense_Mutation_p.L15P|COL6A3_uc002vwq.2_Missense_Mutation_p.L15P|COL6A3_uc002vwr.2_Missense_Mutation_p.L15P|COL6A3_uc010znk.1_Missense_Mutation_p.L15P	1,1	1		probably_damaging(0.979)	p.L15P	NM_004369	NP_004360			1,1	CO6A3_HUMAN	COL6A3	HGNC	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	Q8N4Z1_HUMAN,D9ZGF2_HUMAN		2	329	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	UPI0000456F39	15					SNV	COL6A3,missense_variant,p.Leu15Pro,ENST00000295550,NM_004369.3;COL6A3,missense_variant,p.Leu15Pro,ENST00000347401,;COL6A3,missense_variant,p.Leu15Pro,ENST00000353578,NM_057167.3;COL6A3,missense_variant,p.Leu15Pro,ENST00000346358,;COL6A3,missense_variant,p.Leu15Pro,ENST00000409809,;COL6A3,missense_variant,p.Leu15Pro,ENST00000472056,NM_057166.4;COL6A3,missense_variant,p.Leu15Pro,ENST00000392004,NM_057165.4;COL6A3,missense_variant,p.Leu15Pro,ENST00000392003,NM_057164.4;COL6A3,missense_variant,p.Leu15Pro,ENST00000433762,;	uc002vwl.2	c.44T>C	497/10749	3	3			c.44T>C						2	SNP	c.(43-45)CTC>CCC	13	13			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18	Broad	alpha 3 type VI collagen isoform 1 precursor			238305417		0.423	ENSG00000163359	3638	g.chr2:238305417A>G	axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity							-33.234481	KEEP	2	3	-1	88	94	2	3	-1	7.153832	88	94	0.024845	1	0	0	0	0	1	0	0	0	--	--		0	G			COL6A3_uc002vwo.2_Missense_Mutation_p.L15P|COL6A3_uc010znj.1_Missense_Mutation_p.L15P|COL6A3_uc002vwq.2_Missense_Mutation_p.L15P|COL6A3_uc002vwr.2_Missense_Mutation_p.L15P|COL6A3_uc010znk.1_Missense_Mutation_p.L15P	256	GBM-41-3915-TP	p.L15P	A	TGAGAGAAAGAGGCAAAAGAC	NM_004369	NP_004360	238305417	P12111	CO6A3_HUMAN	0		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	2	329	-	G	G		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	Missense_Mutation	15						
COL6A3	0	broad.mit.edu	GRCh37	2	238303590	238303590	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-4927-01	TCGA-76-4927-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295550.4:c.349C>G	p.Gln117Glu	p.Q117E	ENST00000295550	NM_004369.3	117	Cag/Gag	0			1			C	Q/E	uc002vwl.2	protein_coding	YES	CCDS33412.1			349/9534									ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18	c.(349-351)CAG>GAG			Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF83,SMART_domains:SM00327,Superfamily_domains:SSF53300	alpha 3 type VI collagen isoform 1 precursor				ENSP00000295550		Mar-44									COSM3407719	Mar-44	.		ENST00000295550	Transcript	1		axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	ENSG00000163359	g.chr2:238303590G>C	2213			MODERATE		0.225	neutral	getma.org/?cm=msa&ty=f&p=CO6A3_HUMAN&rb=39&re=213&var=Q117E	getma.org/pdb.php?prot=CO6A3_HUMAN&from=39&to=213&var=Q117E	getma.org/?cm=var&var=hg19,2,238303590,G,C&fts=all	Q117E	--	--	1																																		COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Intron|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.Q117E	1	1		benign(0.017)	p.Q117E	NM_004369	NP_004360			1	CO6A3_HUMAN	COL6A3	HGNC	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	Q8N4Z1_HUMAN,D9ZGF2_HUMAN		3	634	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	UPI0000456F39	117			VWFA 1.|Nonhelical region.		SNV	COL6A3,missense_variant,p.Gln117Glu,ENST00000295550,NM_004369.3;COL6A3,missense_variant,p.Gln117Glu,ENST00000347401,;COL6A3,missense_variant,p.Gln117Glu,ENST00000346358,;COL6A3,missense_variant,p.Gln117Glu,ENST00000433762,;COL6A3,intron_variant,,ENST00000353578,NM_057167.3;COL6A3,intron_variant,,ENST00000409809,;COL6A3,intron_variant,,ENST00000472056,NM_057166.4;COL6A3,intron_variant,,ENST00000392004,NM_057165.4;COL6A3,intron_variant,,ENST00000392003,NM_057164.4;	uc002vwl.2	c.349C>G	802/10749	4	4			c.349C>G						2	SNP	c.(349-351)CAG>GAG	36	36			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18	Broad	alpha 3 type VI collagen isoform 1 precursor			238303590		0.453	ENSG00000163359	3638	g.chr2:238303590G>C	axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity							366.994622	KEEP	58	57	-1	105	107	58	57	-1	372.063522	105	107	0.359589	1	0	0	0	0	1	0	0	0	--	--		0	C			COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Intron|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.Q117E	267	GBM-76-4927-TP	p.Q117E	G	TTTCCAGTCTGATTGGTTCCC	NM_004369	NP_004360	238303590	P12111	CO6A3_HUMAN	0		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	3	634	-	C	C		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	Missense_Mutation	117			VWFA 1.|Nonhelical region.			
COL6A3	1293		GRCh37	2	238285526	238285526	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000295550.4:c.2959G>A	p.Val987Met	p.V987M	ENST00000295550	NM_004369.3	987	Gtg/Atg	0																																																																																																																																																																																																																																												
COL6A5	256076		GRCh37	3	130159541	130159541	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000265379.6:c.6359G>A	p.Arg2120His	p.R2120H	ENST00000265379	NM_001278298.1	2120	cGt/cAt	0																																																																																																																																																																																																																																												
COL6A6	131873	broad.mit.edu	GRCh37	3	130284156	130284156	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01	TCGA-06-0158-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358511.6:c.980G>A	p.Arg327Gln	p.R327Q	ENST00000358511	NM_001102608.1	327	cGg/cAg	0		A:0	1	A:0		A	R/Q	uc010htl.2	protein_coding	YES	CCDS46911.1			980/6792									ovary(6)|central_nervous_system(1)|pancreas(1)	8	c.(979-981)CGG>CAG			PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	collagen type VI alpha 6 precursor		A:0.001		ENSP00000351310	A:0	Mar-36	0.000248			0.00348					rs182466724,COSM3408231,COSM3408230	Mar-36	common_variant		ENST00000358511	Transcript		A:0.0002	axon guidance|cell adhesion	collagen		ENSG00000206384	g.chr3:130284156G>A	27023			MODERATE		3.735	high	getma.org/?cm=msa&ty=f&p=CO6A6_HUMAN&rb=229&re=407&var=R327Q	getma.org/pdb.php?prot=CO6A6_HUMAN&from=229&to=407&var=R327Q	getma.org/?cm=var&var=hg19,3,130284156,G,A&fts=all	R327Q	--	--	1																																			0,1,1	1		probably_damaging(0.999)	p.R327Q	NM_001102608	NP_001096078	A:0	deleterious(0)	0,1,1	CO6A6_HUMAN	COL6A6	HGNC	A6NMZ7	CO6A6_HUMAN					3	1011	+			UPI00015B6548	327			Nonhelical region.|VWFA 2.		SNV	COL6A6,missense_variant,p.Arg327Gln,ENST00000358511,NM_001102608.1;COL6A6,missense_variant,p.Arg327Gln,ENST00000453409,;	uc010htl.2	c.980G>A	1011/9581	2	2			c.980G>A						3	SNP	c.(979-981)CGG>CAG	39	39			ovary(6)|central_nervous_system(1)|pancreas(1)	8	Broad	collagen type VI alpha 6 precursor			130284156		0.532	ENSG00000206384	3639	g.chr3:130284156G>A	axon guidance|cell adhesion	collagen								25.368029	KEEP	18	14	-1	141	168	18	14	-1	71.010535	141	168	0.103093	1	0	0	0	0	1	0	0	0	--	--		0	A				29	GBM-06-0158-TP	p.R327Q	G	AATGGCAGTCGGAAGAATCAG	NM_001102608	NP_001096078	130284156	A6NMZ7	CO6A6_HUMAN	0			3	1011	+	A	A			Missense_Mutation	327			Nonhelical region.|VWFA 2.			
COL6A6	131873	broad.mit.edu	GRCh37	3	130287203	130287203	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0171-01	TCGA-06-0171-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358511.6:c.2156G>A	p.Arg719Gln	p.R719Q	ENST00000358511	NM_001102608.1	719	cGg/cAg	0			1			A	R/Q	uc010htl.2	protein_coding	YES	CCDS46911.1			2156/6792									ovary(6)|central_nervous_system(1)|pancreas(1)	8	c.(2155-2157)CGG>CAG			PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	collagen type VI alpha 6 precursor				ENSP00000351310		May-36	1.65E-05			0.000116		1.50E-05			rs756106307,COSM2150340,COSM2150339	May-36	.		ENST00000358511	Transcript			axon guidance|cell adhesion	collagen		ENSG00000206384	g.chr3:130287203G>A	27023			MODERATE		4.115	high	getma.org/?cm=msa&ty=f&p=CO6A6_HUMAN&rb=622&re=791&var=R719Q	getma.org/pdb.php?prot=CO6A6_HUMAN&from=622&to=791&var=R719Q	getma.org/?cm=var&var=hg19,3,130287203,G,A&fts=all	R719Q	--	--	1																																			0,1,1	1		probably_damaging(0.999)	p.R719Q	NM_001102608	NP_001096078		deleterious(0)	0,1,1	CO6A6_HUMAN	COL6A6	HGNC	A6NMZ7	CO6A6_HUMAN					5	2187	+			UPI00015B6548	719			Nonhelical region.|VWFA 4.		SNV	COL6A6,missense_variant,p.Arg719Gln,ENST00000358511,NM_001102608.1;COL6A6,missense_variant,p.Arg719Gln,ENST00000453409,;	uc010htl.2	c.2156G>A	2187/9581	2	2			c.2156G>A						3	SNP	c.(2155-2157)CGG>CAG	34	34			ovary(6)|central_nervous_system(1)|pancreas(1)	8	Broad	collagen type VI alpha 6 precursor			130287203		0.502	ENSG00000206384	3639	g.chr3:130287203G>A	axon guidance|cell adhesion	collagen								192.834703	KEEP	35	36	-1	54	65	35	36	-1	195.9237	54	65	0.356725	1	0	0	0	0	1	0	0	0	--	--		0	A				35	GBM-06-0171-TP	p.R719Q	G	AAGGGCGCCCGGCCCAACATC	NM_001102608	NP_001096078	130287203	A6NMZ7	CO6A6_HUMAN	0			5	2187	+	A	A			Missense_Mutation	719			Nonhelical region.|VWFA 4.			
COL6A6	131873	broad.mit.edu	GRCh37	3	130354555	130354555	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358511.6:c.5041G>A	p.Asp1681Asn	p.D1681N	ENST00000358511	NM_001102608.1	1681	Gac/Aac	0			1			A	D/N	uc010htl.2	protein_coding	YES	CCDS46911.1			5041/6792									ovary(6)|central_nervous_system(1)|pancreas(1)	8	c.(5041-5043)GAC>AAC			hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992	collagen type VI alpha 6 precursor				ENSP00000351310		27/36									COSM3408237,COSM3408236	27/36	.		ENST00000358511	Transcript			axon guidance|cell adhesion	collagen		ENSG00000206384	g.chr3:130354555G>A	27023			MODERATE		0.625	neutral	getma.org/?cm=msa&ty=f&p=CO6A6_HUMAN&rb=1651&re=1739&var=D1681N	NA	getma.org/?cm=var&var=hg19,3,130354555,G,A&fts=all	D1681N	--	--	1																																		COL6A6_uc003eni.3_5'UTR	1,1	1		possibly_damaging(0.649)	p.D1681N	NM_001102608	NP_001096078		tolerated(0.19)	1,1	CO6A6_HUMAN	COL6A6	HGNC	A6NMZ7	CO6A6_HUMAN					27	5072	+			UPI00015B6548	1681			Triple-helical region.		SNV	COL6A6,missense_variant,p.Asp1681Asn,ENST00000358511,NM_001102608.1;COL6A6,missense_variant,p.Asp1681Asn,ENST00000453409,;COL6A6,3_prime_UTR_variant,,ENST00000506143,;	uc010htl.2	c.5041G>A	5072/9581	1	1			c.5041G>A						3	SNP	c.(5041-5043)GAC>AAC	64	64			ovary(6)|central_nervous_system(1)|pancreas(1)	8	Broad	collagen type VI alpha 6 precursor			130354555		0.373	ENSG00000206384	3639	g.chr3:130354555G>A	axon guidance|cell adhesion	collagen								23.985863	KEEP	5	8	-1	32	28	5	8	-1	29.84848	32	28	0.180328	1	0	0	0	0	1	0	0	0	--	--		0	A			COL6A6_uc003eni.3_5'UTR	46	GBM-06-0209-TP	p.D1681N	G	TGAGATTGGGGACCCTGGTGG	NM_001102608	NP_001096078	130354555	A6NMZ7	CO6A6_HUMAN	0			27	5072	+	A	A			Missense_Mutation	1681			Triple-helical region.			
COL6A6	0	broad.mit.edu	GRCh37	3	130325803	130325803	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01	TCGA-14-3476-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358511.6:c.4682G>A	p.Gly1561Asp	p.G1561D	ENST00000358511	NM_001102608.1	1561	gGc/gAc	0			1			A	G/D	uc010htl.2	protein_coding	YES	CCDS46911.1			4682/6792									ovary(6)|central_nervous_system(1)|pancreas(1)	8	c.(4681-4683)GGC>GAC			hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992	collagen type VI alpha 6 precursor				ENSP00000351310		20/36									COSM3408235,COSM3408234	20/36	.		ENST00000358511	Transcript			axon guidance|cell adhesion	collagen		ENSG00000206384	g.chr3:130325803G>A	27023			MODERATE		3.94	high	getma.org/?cm=msa&ty=f&p=CO6A6_HUMAN&rb=1522&re=1599&var=G1561D	NA	getma.org/?cm=var&var=hg19,3,130325803,G,A&fts=all	G1561D	--	--	1																																		COL6A6_uc003eni.3_5'UTR	1,1	1		benign(0.314)	p.G1561D	NM_001102608	NP_001096078		deleterious(0)	1,1	CO6A6_HUMAN	COL6A6	HGNC	A6NMZ7	CO6A6_HUMAN					20	4713	+			UPI00015B6548	1561			Triple-helical region.		SNV	COL6A6,missense_variant,p.Gly1561Asp,ENST00000358511,NM_001102608.1;COL6A6,missense_variant,p.Gly1561Asp,ENST00000453409,;COL6A6,3_prime_UTR_variant,,ENST00000506143,;	uc010htl.2	c.4682G>A	4713/9581	1	1			c.4682G>A						3	SNP	c.(4681-4683)GGC>GAC	55	55			ovary(6)|central_nervous_system(1)|pancreas(1)	8	Broad	collagen type VI alpha 6 precursor			130325803		0.353	ENSG00000206384	3639	g.chr3:130325803G>A	axon guidance|cell adhesion	collagen								50.840849	KEEP	11	10	-1	23	16	11	10	-1	51.701555	23	16	0.36	1	0	0	0	0	1	0	0	0	--	--		0	A			COL6A6_uc003eni.3_5'UTR	151	GBM-14-3476-TP	p.G1561D	G	GGACATACAGGCCCACAGGTA	NM_001102608	NP_001096078	130325803	A6NMZ7	CO6A6_HUMAN	0			20	4713	+	A	A			Missense_Mutation	1561			Triple-helical region.			
COL6A6	0	broad.mit.edu	GRCh37	3	130313143	130313143	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-19-5960-01	TCGA-19-5960-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358511.6:c.4489G>C	p.Gly1497Arg	p.G1497R	ENST00000358511	NM_001102608.1	1497	Ggg/Cgg	0			1			C	G/R	uc010htl.2	protein_coding	YES	CCDS46911.1			4489/6792									ovary(6)|central_nervous_system(1)|pancreas(1)	8	c.(4489-4491)GGG>CGG			hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992	collagen type VI alpha 6 precursor				ENSP00000351310		17/36									COSM3408233,COSM3408232	17/36	.		ENST00000358511	Transcript			axon guidance|cell adhesion	collagen		ENSG00000206384	g.chr3:130313143G>C	27023			MODERATE		4.195	high	getma.org/?cm=msa&ty=f&p=CO6A6_HUMAN&rb=1451&re=1510&var=G1497R	NA	getma.org/?cm=var&var=hg19,3,130313143,G,C&fts=all	G1497R	--	--	1																																		COL6A6_uc003eni.3_5'UTR	1,1	1		probably_damaging(1)	p.G1497R	NM_001102608	NP_001096078		deleterious(0)	1,1	CO6A6_HUMAN	COL6A6	HGNC	A6NMZ7	CO6A6_HUMAN					17	4520	+			UPI00015B6548	1497			Triple-helical region.		SNV	COL6A6,missense_variant,p.Gly1497Arg,ENST00000358511,NM_001102608.1;COL6A6,missense_variant,p.Gly1497Arg,ENST00000453409,;COL6A6,downstream_gene_variant,,ENST00000511332,;COL6A6,missense_variant,p.Gly275Arg,ENST00000506143,;	uc010htl.2	c.4489G>C	4520/9581	3	3			c.4489G>C						3	SNP	c.(4489-4491)GGG>CGG	51	51			ovary(6)|central_nervous_system(1)|pancreas(1)	8	Broad	collagen type VI alpha 6 precursor			130313143		0.463	ENSG00000206384	3639	g.chr3:130313143G>C	axon guidance|cell adhesion	collagen								95.823089	KEEP	21	15	-1	31	41	21	15	-1	97.557782	31	41	0.348837	1	0	0	0	0	1	0	0	0	--	--		0	C			COL6A6_uc003eni.3_5'UTR	178	GBM-19-5960-TP	p.G1497R	G	AGGGAAGAGAGGGACTCCTGG	NM_001102608	NP_001096078	130313143	A6NMZ7	CO6A6_HUMAN	0			17	4520	+	C	C			Missense_Mutation	1497			Triple-helical region.			
COL7A1	1294	broad.mit.edu	GRCh37	3	48629808	48629808	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs146041612		TCGA-06-0209-01	TCGA-06-0209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328333.8:c.1069C>T	p.Arg357Cys	p.R357C	ENST00000328333	NM_000094.3	357	Cgt/Tgt	0	A:0.0002		1			A	R/C	uc003ctz.2	protein_coding	YES	CCDS2773.1			1069/8835									ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11	c.(1069-1071)CGT>TGT			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR24023,SMART_domains:SM00060,Superfamily_domains:SSF49265	alpha 1 type VII collagen precursor			A:0	ENSP00000332371		8/118	8.24E-06			0.000116					rs146041612,COSM3408724	8/118	.		ENST00000328333	Transcript	1		cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	ENSG00000114270	g.chr3:48629808G>A	2214			MODERATE		2.265	medium	getma.org/?cm=msa&ty=f&p=CO7A1_HUMAN&rb=331&re=407&var=R357C	getma.org/pdb.php?prot=CO7A1_HUMAN&from=331&to=407&var=R357C	getma.org/?cm=var&var=hg19,3,48629808,G,A&fts=all	R357C	--	--	1																																			0,1	1		unknown(0)	p.R357C	NM_000094	NP_000085			0,1	CO7A1_HUMAN	COL7A1	HGNC	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)			8	1070	-			UPI0000126D20	357			Nonhelical region (NC1).|Fibronectin type-III 2.		SNV	COL7A1,missense_variant,p.Arg357Cys,ENST00000328333,NM_000094.3;COL7A1,missense_variant,p.Arg357Cys,ENST00000454817,;	uc003ctz.2	c.1069C>T	1177/9276	1	1			c.1069C>T						3	SNP	c.(1069-1071)CGT>TGT	50	50			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11	Broad	alpha 1 type VII collagen precursor			48629808		0.637	ENSG00000114270	3640	g.chr3:48629808G>A	cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity							15.009952	KEEP	6	5	-1	33	26	6	5	-1	18.987477	33	26	0.175	1	0	0	0	0	1	0	0	0	--	--		0	A				46	GBM-06-0209-TP	p.R357C	G	CATGTCACACGGTAGCCAGTG	NM_000094	NP_000085	48629808	Q02388	CO7A1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	8	1070	-	A	A			Missense_Mutation	357			Nonhelical region (NC1).|Fibronectin type-III 2.			
COL9A1	0	broad.mit.edu	GRCh37	6	71004007	71004007	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357250.6:c.559G>A	p.Val187Met	p.V187M	ENST00000357250	NM_001851.4	187	Gtg/Atg	0			1			T	V/M	uc003pfg.3	protein_coding	YES	CCDS4971.1			559/2766									ovary(4)	4	c.(559-561)GTG>ATG			Gene3D:2.60.120.200,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF454,SMART_domains:SM00210,Superfamily_domains:SSF49899	alpha 1 type IX collagen isoform 1 precursor				ENSP00000349790		May-38	7.41E-05					0.00012		6.06E-05	rs773143381,COSM1081235	May-38	.		ENST00000357250	Transcript	1		axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	ENSG00000112280	g.chr6:71004007C>T	2217			MODERATE		2.995	medium	getma.org/?cm=msa&ty=f&p=CO9A1_HUMAN&rb=122&re=234&var=V187M	getma.org/pdb.php?prot=CO9A1_HUMAN&from=122&to=234&var=V187M	getma.org/?cm=var&var=hg19,6,71004007,C,T&fts=all	V187M	--	--	1																																			0,1	1		unknown(0)	p.V187M	NM_001851	NP_001842			0,1	CO9A1_HUMAN	COL9A1	HGNC	P20849	CO9A1_HUMAN					5	718	-			UPI000020D14B	187			Nonhelical region (NC4).|TSP N-terminal.		SNV	COL9A1,missense_variant,p.Val187Met,ENST00000357250,NM_001851.4;COL9A1,missense_variant,p.Val187Met,ENST00000370496,;	uc003pfg.3	c.559G>A	718/4761	2	2			c.559G>A						6	SNP	c.(559-561)GTG>ATG	32	32			ovary(4)	4	Broad	alpha 1 type IX collagen isoform 1 precursor			71004007		0.433	ENSG00000112280	3643	g.chr6:71004007C>T	axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding							268.776784	KEEP	57	42	-1	82	92	57	42	-1	272.748424	82	92	0.367187	1	0	0	0	0	1	0	0	0	--	--		0	T				129	GBM-12-5295-TP	p.V187M	C	CTCCTCTCCACGCCAATCATG	NM_001851	NP_001842	71004007	P20849	CO9A1_HUMAN	0			5	718	-	T	T			Missense_Mutation	187			Nonhelical region (NC4).|TSP N-terminal.			
COL9A1	1297		GRCh37	6	70961988	70961988	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000357250.6:c.1795C>T	p.Gln599Ter	p.Q599*	ENST00000357250	NM_001851.4	599	Cag/Tag	0																																																																																																																																																																																																																																												
COL9A2	0	broad.mit.edu	GRCh37	1	40770007	40770007	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2623-01	TCGA-19-2623-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372748.3:c.1272C>T	p.Gly424=	p.G424=	ENST00000372748	NM_001852.3	424	ggC/ggT	0			1			A	G	uc001cfh.1	protein_coding	YES	CCDS450.1			1272/2070									ovary(2)	2	c.(1270-1272)GGC>GGT			Low_complexity_(Seg):seg,hmmpanther:PTHR24021:SF18,hmmpanther:PTHR24021,Pfam_domain:PF01391	alpha 2 type IX collagen precursor				ENSP00000361834		24/32									COSM3400776	24/32	.		ENST00000372748	Transcript	1		axon guidance|skeletal system development	collagen type IX		ENSG00000049089	g.chr1:40770007G>A	2218			LOW								--	--	1																																		COL9A2_uc001cfi.1_Silent_p.G243G	1	1			p.G424G	NM_001852	NP_001843			1	CO9A2_HUMAN	COL9A2	HGNC	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		D3DPU8_HUMAN		24	1342	-	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	UPI0000126D47	424			Triple-helical region 3 (COL3).		SNV	COL9A2,missense_variant,p.Ala28Val,ENST00000427563,;COL9A2,synonymous_variant,p.=,ENST00000372748,NM_001852.3;COL9A2,non_coding_transcript_exon_variant,,ENST00000466267,;COL9A2,non_coding_transcript_exon_variant,,ENST00000482722,;COL9A2,downstream_gene_variant,,ENST00000488463,;	uc001cfh.1	c.1272C>T	1369/2862	1	1			c.1272C>T						1	SNP	c.(1270-1272)GGC>GGT	63	63			ovary(2)	2	Broad	alpha 2 type IX collagen precursor			40770007		0.607	ENSG00000049089	3644	g.chr1:40770007G>A	axon guidance|skeletal system development	collagen type IX								23.2271	KEEP	4	3	-1	0	6	4	3	-1	23.299916	0	6	0.583333	1	0	0	0	0	0	0	1	0	--	--		0	A			COL9A2_uc001cfi.1_Silent_p.G243G	163	GBM-19-2623-TP	p.G424G	G	CTCCTTTGACGCCTGGCAAGC	NM_001852	NP_001843	40770007	Q14055	CO9A2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		24	1342	-	A	A	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	Silent	424			Triple-helical region 3 (COL3).			
COLCA1	399948	broad.mit.edu	GRCh37	11	111166838	111166838	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-5417-01	TCGA-06-5417-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000532918.1:c.366T>C	p.Ala122=	p.A122=	ENST00000532918		122	gcT/gcC	0			1			G	A	uc001pld.2	protein_coding	YES				366/375									lung(1)	1	c.(364-366)GCT>GCC				hypothetical protein LOC399948				ENSP00000437253		2-Feb									COSM2153260	2-Feb	.		ENST00000532918	Transcript						ENSG00000196167	g.chr11:111166838A>G	33789			LOW								--	--	1																																		C11orf92_uc001ple.2_RNA	1	1			p.A122A	NM_207429	NP_997312			1	COLC1_HUMAN	COLCA1	HGNC							2	2775	-			UPI00001C0E9B						SNV	COLCA1,synonymous_variant,p.=,ENST00000532918,;COLCA1,synonymous_variant,p.=,ENST00000355430,;COLCA1,synonymous_variant,p.=,ENST00000540738,;COLCA2,upstream_gene_variant,,ENST00000398035,NM_001136105.2;COLCA2,upstream_gene_variant,,ENST00000526216,NM_001271458.1;COLCA2,upstream_gene_variant,,ENST00000528846,NM_001271457.1;COLCA1,downstream_gene_variant,,ENST00000526150,;	uc001pld.2	c.366T>C	2772/5496	3	3			c.366T>C						11	SNP	c.(364-366)GCT>GCC	5	5			lung(1)	1	Broad	hypothetical protein LOC399948			111166838		0.433	ENSG00000196167	1635	g.chr11:111166838A>G										318.959471	KEEP	50	44	-1	55	46	50	44	-1	318.971249	55	46	0.508876	1	0	0	0	0	0	0	1	0	--	--		0	G			C11orf92_uc001ple.2_RNA	99	GBM-06-5417-TP	p.A122A	A	ATTAATGTTGAGCTACAAACC	NM_207429	NP_997312	111166838			0			2	2775	-	G	G			Silent							
COLEC10	0	broad.mit.edu	GRCh37	8	120118082	120118082	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-2623-01	TCGA-19-2623-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332843.2:c.486C>T	p.Ile162=	p.I162=	ENST00000332843	NM_006438.3	162	atC/atT	0			1			T	I	uc003yoo.2	protein_coding	YES	CCDS6327.1			486/834									ovary(2)|skin(1)	3	c.(484-486)ATC>ATT			Gene3D:3.10.100.10,PROSITE_profiles:PS50041,hmmpanther:PTHR24024,hmmpanther:PTHR24024:SF17,SMART_domains:SM00034,Superfamily_domains:SSF56436	collectin sub-family member 10 precursor				ENSP00000332723		6-Jun									COSM1454482	6-Jun	.		ENST00000332843	Transcript				collagen|cytoplasm	mannose binding	ENSG00000184374	g.chr8:120118082C>T	2220			LOW								--	--	1																																			1	1			p.I162I	NM_006438	NP_006429			1	COL10_HUMAN	COLEC10	HGNC	Q9Y6Z7	COL10_HUMAN	STAD - Stomach adenocarcinoma(47;0.00113)				6	583	+	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		UPI00001B01DD	162			C-type lectin.		SNV	COLEC10,synonymous_variant,p.=,ENST00000332843,NM_006438.3;COLEC10,downstream_gene_variant,,ENST00000521788,;	uc003yoo.2	c.486C>T	527/1266	1	1			c.486C>T						8	SNP	c.(484-486)ATC>ATT	1	1			ovary(2)|skin(1)	3	Broad	collectin sub-family member 10 precursor			120118082		0.458	ENSG00000184374	3646	g.chr8:120118082C>T		collagen|cytoplasm	mannose binding							51.629759	KEEP	11	7	-1	16	25	11	7	-1	53.216062	16	25	0.321429	1	0	0	0	0	0	0	1	0	--	--		0	T				163	GBM-19-2623-TP	p.I162I	C	TCTACTACATCGTGCAGGAAG	NM_006438	NP_006429	120118082	Q9Y6Z7	COL10_HUMAN	0	STAD - Stomach adenocarcinoma(47;0.00113)		6	583	+	T	T	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		Silent	162			C-type lectin.			
COLEC10	0	broad.mit.edu	GRCh37	8	120101985	120101985	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6282-01	TCGA-76-6282-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332843.2:c.215C>T	p.Pro72Leu	p.P72L	ENST00000332843	NM_006438.3	72	cCg/cTg	0			1			T	P/L	uc003yoo.2	protein_coding	YES	CCDS6327.1			215/834									ovary(2)|skin(1)	3	c.(214-216)CCG>CTG			Pfam_domain:PF01391,Pfam_domain:PF01391,hmmpanther:PTHR24024,hmmpanther:PTHR24024:SF17	collectin sub-family member 10 precursor				ENSP00000332723		6-Feb	1.65E-05		8.79E-05			1.56E-05			rs775941726,COSM3165201	6-Feb	.		ENST00000332843	Transcript				collagen|cytoplasm	mannose binding	ENSG00000184374	g.chr8:120101985C>T	2220			MODERATE		1.155	low	getma.org/?cm=msa&ty=f&p=COL10_HUMAN&rb=62&re=123&var=P72L	NA	getma.org/?cm=var&var=hg19,8,120101985,C,T&fts=all	P72L	--	--	1																																			0,1	1		benign(0.006)	p.P72L	NM_006438	NP_006429		tolerated(0.66)	0,1	COL10_HUMAN	COLEC10	HGNC	Q9Y6Z7	COL10_HUMAN	STAD - Stomach adenocarcinoma(47;0.00113)				2	312	+	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		UPI00001B01DD	72			Collagen-like.		SNV	COLEC10,missense_variant,p.Pro72Leu,ENST00000332843,NM_006438.3;COLEC10,non_coding_transcript_exon_variant,,ENST00000521788,;	uc003yoo.2	c.215C>T	256/1266	2	2			c.215C>T						8	SNP	c.(214-216)CCG>CTG	26	26			ovary(2)|skin(1)	3	Broad	collectin sub-family member 10 precursor			120101985		0.413	ENSG00000184374	3646	g.chr8:120101985C>T		collagen|cytoplasm	mannose binding							17.084449	KEEP	3	5	-1	16	21	3	5	-1	20.839347	16	21	0.190476	1	0	0	0	0	1	0	0	0	--	--		0	T				278	GBM-76-6282-TP	p.P72L	C	CGCATGGGGCCGAAAGGTAAC	NM_006438	NP_006429	120101985	Q9Y6Z7	COL10_HUMAN	0	STAD - Stomach adenocarcinoma(47;0.00113)		2	312	+	T	T	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		Missense_Mutation	72			Collagen-like.			
COLEC12	0	broad.mit.edu	GRCh37	18	335090	335090	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-28-5207-01	TCGA-28-5207-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400256.3:c.1468G>C	p.Ala490Pro	p.A490P	ENST00000400256	NM_130386.2	490	Gct/Cct	0			1			G	A/P	uc002kkm.2	protein_coding	YES	CCDS32782.1			1468/2229									ovary(1)|pancreas(1)	2	c.(1468-1470)GCT>CCT			Pfam_domain:PF01391,hmmpanther:PTHR24021,hmmpanther:PTHR24021:SF19,Low_complexity_(Seg):seg	collectin sub-family member 12				ENSP00000383115		10-Jun									COSM2157319	10-Jun	.		ENST00000400256	Transcript			carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	ENSG00000158270	g.chr18:335090C>G	16016			MODERATE		-0.45	neutral	getma.org/?cm=msa&ty=f&p=COL12_HUMAN&rb=441&re=499&var=A490P	NA	getma.org/?cm=var&var=hg19,18,335090,C,G&fts=all	A490P	--	--	1																																			1	1		unknown(0)	p.A490P	NM_130386	NP_569057		tolerated(1)	1	COL12_HUMAN	COLEC12	HGNC	Q5KU26	COL12_HUMAN					6	1683	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	UPI00002018EC	490			Collagen-like 2.|Extracellular (Potential).		SNV	COLEC12,missense_variant,p.Ala490Pro,ENST00000400256,NM_130386.2;COLEC12,non_coding_transcript_exon_variant,,ENST00000582147,;	uc002kkm.2	c.1468G>C	1676/3121	3	3			c.1468G>C						18	SNP	c.(1468-1470)GCT>CCT	63	63			ovary(1)|pancreas(1)	2	Broad	collectin sub-family member 12			335090		0.677	ENSG00000158270	3648	g.chr18:335090C>G	carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity							111.785746	KEEP	29	11	-1	52	38	29	11	-1	114.623982	52	38	0.327103	1	0	0	0	0	1	0	0	0	--	--		0	G				216	GBM-28-5207-TP	p.A490P	C	GGGGGACCAGCTGGTCCAATT	NM_130386	NP_569057	335090	Q5KU26	COL12_HUMAN	0			6	1683	-	G	G		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	Missense_Mutation	490			Collagen-like 2.|Extracellular (Potential).			
COLGALT1	0	broad.mit.edu	GRCh37	19	17679388	17679388	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01	TCGA-12-0619-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252599.4:c.695C>T	p.Pro232Leu	p.P232L	ENST00000252599	NM_024656.2	232	cCc/cTc	0			1			T	P/L	uc002nhc.1	protein_coding	YES	CCDS12363.1			695/1869										0	c.(694-696)CCC>CTC			hmmpanther:PTHR10730,hmmpanther:PTHR10730:SF10,Superfamily_domains:SSF53448	glycosyltransferase 25 domain containing 1				ENSP00000252599		12-May									COSM2153644	12-May	.		ENST00000252599	Transcript			lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity	ENSG00000130309	g.chr19:17679388C>T	26182			MODERATE		3.44	medium	getma.org/?cm=msa&ty=f&p=GT251_HUMAN&rb=182&re=339&var=P232L	NA	getma.org/?cm=var&var=hg19,19,17679388,C,T&fts=all	P232L	--	--	1																																		GLT25D1_uc010eax.1_5'UTR	1	1		probably_damaging(0.984)	p.P232L	NM_024656	NP_078932		deleterious(0)	1	GT251_HUMAN	COLGALT1	HGNC	Q8NBJ5	GT251_HUMAN			Q8WUI9_HUMAN,M0QYH0_HUMAN,B3KQ10_HUMAN		5	707	+			UPI000003B0F7	232					SNV	COLGALT1,missense_variant,p.Pro232Leu,ENST00000252599,NM_024656.2;COLGALT1,upstream_gene_variant,,ENST00000597147,;COLGALT1,downstream_gene_variant,,ENST00000600474,;COLGALT1,non_coding_transcript_exon_variant,,ENST00000601354,;	uc002nhc.1	c.695C>T	815/3704	2	2			c.695C>T						19	SNP	c.(694-696)CCC>CTC	29	29				0	Broad	glycosyltransferase 25 domain containing 1			17679388		0.617	ENSG00000130309	6349	g.chr19:17679388C>T	lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity							76.945137	KEEP	16	15	-1	51	47	16	15	-1	84.020332	51	47	0.241379	1	0	0	0	0	1	0	0	0	--	--		0	T			GLT25D1_uc010eax.1_5'UTR	120	GBM-12-0619-TP	p.P232L	C	TTTGCAGTTCCCATGGTGCAC	NM_024656	NP_078932	17679388	Q8NBJ5	GT251_HUMAN	0			5	707	+	T	T			Missense_Mutation	232						
COLQ	8292	broad.mit.edu	GRCh37	3	15512054	15512054	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-02-2485-01	TCGA-02-2485-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000383788.5:c.706C>T	p.Arg236Ter	p.R236*	ENST00000383788	NM_005677.3	236	Cga/Tga	0			1			A	R/*	uc003bzx.2	protein_coding	YES	CCDS33709.1			706/1368										0	c.(706-708)CGA>TGA			Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF6,Pfam_domain:PF01391	acetylcholinesterase collagen-like tail subunit				ENSP00000373298		17-Nov	8.24E-06					1.50E-05			rs760669036,COSM3408374,COSM3408375,COSM3408377,COSM3408376	17-Nov	.		ENST00000383788	Transcript	1		acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft		ENSG00000206561	g.chr3:15512054G>A	2226			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,3,15512054,G,A&fts=all	R236*	--	--	1																																		COLQ_uc003bzv.2_Nonsense_Mutation_p.R226*|COLQ_uc003bzz.2_Nonsense_Mutation_p.R227*|COLQ_uc010heo.2_Nonsense_Mutation_p.R202*|COLQ_uc003cac.1_RNA|COLQ_uc003cae.1_Nonsense_Mutation_p.R95*|COLQ_uc003cad.1_RNA	0,1,1,1,1	1			p.R236*	NM_005677	NP_005668			0,1,1,1,1	COLQ_HUMAN	COLQ	HGNC	Q9Y215	COLQ_HUMAN					11	832	-			UPI000013F74C	236			Heparan sulfate proteoglycan binding (Potential).|Collagen-like 1.		SNV	COLQ,stop_gained,p.Arg236Ter,ENST00000383785,;COLQ,stop_gained,p.Arg236Ter,ENST00000383788,NM_005677.3;COLQ,stop_gained,p.Arg227Ter,ENST00000383787,;COLQ,stop_gained,p.Arg226Ter,ENST00000435459,;COLQ,stop_gained,p.Arg226Ter,ENST00000383781,NM_080538.2;COLQ,stop_gained,p.Arg236Ter,ENST00000603808,;COLQ,stop_gained,p.Arg202Ter,ENST00000383786,NM_080539.3;COLQ,stop_gained,p.Arg179Ter,ENST00000605797,;COLQ,downstream_gene_variant,,ENST00000604401,;	uc003bzx.2	c.706C>T	832/2991	5	2			c.706C>T						3	SNP	c.(706-708)CGA>TGA	31	31				0	Broad	acetylcholinesterase collagen-like tail subunit			15512054		0.552	ENSG00000206561	3649	g.chr3:15512054G>A	acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft								182.52742	KEEP	38	33	-1	47	52	38	33	-1	183.509344	47	52	0.413333	1	0	0	0	0	0	1	0	0	--	--		0	A			COLQ_uc003bzv.2_Nonsense_Mutation_p.R226*|COLQ_uc003bzz.2_Nonsense_Mutation_p.R227*|COLQ_uc010heo.2_Nonsense_Mutation_p.R202*|COLQ_uc003cac.1_RNA|COLQ_uc003cae.1_Nonsense_Mutation_p.R95*|COLQ_uc003cad.1_RNA	7	GBM-02-2485-TP	p.R236*	G	TGCTTGCCTCGTTTTCCTGGT	NM_005677	NP_005668	15512054	Q9Y215	COLQ_HUMAN	0			11	832	-	A	A			Nonsense_Mutation	236			Heparan sulfate proteoglycan binding (Potential).|Collagen-like 1.			
COMMD4	54939	broad.mit.edu	GRCh37	15	75631625	75631625	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267935.8:c.322C>T	p.Arg108Cys	p.R108C	ENST00000267935	NM_017828.3	108	Cgc/Tgc	0	T:0		1			T	R/C	uc002azy.2	protein_coding	YES	CCDS10277.1			322/600										0	c.(322-324)CGC>TGC			Pfam_domain:PF07258,hmmpanther:PTHR16224	COMM domain containing 4			T:0.0003	ENSP00000267935		8-Jun	9.88E-05		0.000177	0.000234		9.21E-05		0.000123	rs377428086,COSM471069	8-Jun	.		ENST00000267935	Transcript				cytoplasm	protein binding	ENSG00000140365	g.chr15:75631625C>T	26027			MODERATE		2.54	medium	getma.org/?cm=msa&ty=f&p=COMD4_HUMAN&rb=19&re=198&var=R108C	NA	getma.org/?cm=var&var=hg19,15,75631625,C,T&fts=all	R108C	--	--	1																																		COMMD4_uc010umf.1_3'UTR|COMMD4_uc002azz.2_Silent_p.A90A|COMMD4_uc002baa.2_Missense_Mutation_p.R108C|COMMD4_uc010umg.1_3'UTR|COMMD4_uc010umh.1_RNA	0,1	1		benign(0.329)	p.R108C	NM_017828	NP_060298		tolerated(0.08)	0,1	COMD4_HUMAN	COMMD4	HGNC	Q9H0A8	COMD4_HUMAN					6	379	+			UPI000004A01C	108					SNV	COMMD4,missense_variant,p.Arg108Cys,ENST00000267935,NM_017828.3;COMMD4,missense_variant,p.Arg114Cys,ENST00000562789,NM_001284379.1;COMMD4,missense_variant,p.Arg108Cys,ENST00000338995,NM_001284377.1;COMMD4,missense_variant,p.Arg135Cys,ENST00000568301,;COMMD4,missense_variant,p.Arg86Cys,ENST00000564815,;COMMD4,missense_variant,p.Arg92Cys,ENST00000567377,;COMMD4,intron_variant,,ENST00000567195,NM_001284378.1;COMMD4,downstream_gene_variant,,ENST00000561662,;COMMD4,missense_variant,p.Arg108Cys,ENST00000480484,;COMMD4,synonymous_variant,p.=,ENST00000562610,;COMMD4,3_prime_UTR_variant,,ENST00000567720,;COMMD4,non_coding_transcript_exon_variant,,ENST00000564068,;COMMD4,non_coding_transcript_exon_variant,,ENST00000566843,;COMMD4,non_coding_transcript_exon_variant,,ENST00000563220,;COMMD4,non_coding_transcript_exon_variant,,ENST00000565834,;COMMD4,non_coding_transcript_exon_variant,,ENST00000567399,;COMMD4,non_coding_transcript_exon_variant,,ENST00000567023,;COMMD4,non_coding_transcript_exon_variant,,ENST00000569245,;COMMD4,non_coding_transcript_exon_variant,,ENST00000568877,;COMMD4,non_coding_transcript_exon_variant,,ENST00000562310,;COMMD4,non_coding_transcript_exon_variant,,ENST00000565517,;COMMD4,intron_variant,,ENST00000567935,;COMMD4,downstream_gene_variant,,ENST00000568034,;COMMD4,downstream_gene_variant,,ENST00000564587,;COMMD4,downstream_gene_variant,,ENST00000566230,;	uc002azy.2	c.322C>T	521/1067	2	2			c.322C>T						15	SNP	c.(322-324)CGC>TGC	17	17				0	Broad	COMM domain containing 4			75631625		0.612	ENSG00000140365	3654	g.chr15:75631625C>T		cytoplasm	protein binding							-4.116813	KEEP	2	1	-1	32	29	2	1	-1	6.553057	32	29	0.057692	1	0	0	0	0	1	0	0	0	--	--		0	T			COMMD4_uc010umf.1_3'UTR|COMMD4_uc002azz.2_Silent_p.A90A|COMMD4_uc002baa.2_Missense_Mutation_p.R108C|COMMD4_uc010umg.1_3'UTR|COMMD4_uc010umh.1_RNA	102	GBM-06-5858-TP	p.R108C	C	CAGCCTGTGCCGCTGTTATGA	NM_017828	NP_060298	75631625	Q9H0A8	COMD4_HUMAN	0			6	379	+	T	T			Missense_Mutation	108						
COMMD5	0	broad.mit.edu	GRCh37	8	146076337	146076337	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305103.3:c.387G>A	p.Val129=	p.V129=	ENST00000305103	NM_014066.3	129	gtG/gtA	0			1			T	V	uc003zem.2	protein_coding		CCDS6436.1			387/675									ovary(1)	1	c.(385-387)GTG>GTA			hmmpanther:PTHR15666:SF1,hmmpanther:PTHR15666,Pfam_domain:PF07258	COMM domain containing 5				ENSP00000304544		2-Feb									COSM3412874	2-Feb	.		ENST00000305103	Transcript				nucleus	protein binding	ENSG00000170619	g.chr8:146076337C>T	17902			LOW								--	--	1																																		COMMD5_uc003zel.1_RNA|COMMD5_uc003zen.2_Silent_p.V129V|COMMD5_uc003zeo.3_Silent_p.V129V|COMMD5_uc010mgf.2_Silent_p.V129V	1				p.V129V	NM_001081004	NP_001074473			1	COMD5_HUMAN	COMMD5	HGNC	Q9GZQ3	COMD5_HUMAN	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)		E9PJE4_HUMAN		2	518	-	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		UPI000004A08E	129					SNV	COMMD5,synonymous_variant,p.=,ENST00000450361,NM_001081003.2;COMMD5,synonymous_variant,p.=,ENST00000305103,NM_014066.3;COMMD5,synonymous_variant,p.=,ENST00000402718,NM_001081004.1,NM_001287237.1;COMMD5,synonymous_variant,p.=,ENST00000529143,;COMMD5,synonymous_variant,p.=,ENST00000533270,;ZNF7,downstream_gene_variant,,ENST00000525266,NM_001282796.1;ZNF250,downstream_gene_variant,,ENST00000543949,;ZNF7,downstream_gene_variant,,ENST00000325217,;AF235103.1,upstream_gene_variant,,ENST00000578937,;COMMD5,synonymous_variant,p.=,ENST00000530332,;	uc003zem.2	c.387G>A	640/1373	2	2			c.387G>A						8	SNP	c.(385-387)GTG>GTA	32	32			ovary(1)	1	Broad	COMM domain containing 5			146076337		0.652	ENSG00000170619	3655	g.chr8:146076337C>T		nucleus	protein binding							4.941546	KEEP	2	0	-1	7	7	2	0	-1	6.661135	7	7	0.142857	1	0	0	0	0	0	0	1	0	--	--		0	T			COMMD5_uc003zel.1_RNA|COMMD5_uc003zen.2_Silent_p.V129V|COMMD5_uc003zeo.3_Silent_p.V129V|COMMD5_uc010mgf.2_Silent_p.V129V	160	GBM-19-1790-TP	p.V129V	C	TCCCAAATACCACGCTGGCCA	NM_001081004	NP_001074473	146076337	Q9GZQ3	COMD5_HUMAN	0	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)		2	518	-	T	T	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Silent	129						
COPA	1314		GRCh37	1	160268961	160268961	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000368069.3:c.1788C>T	p.Pro596=	p.P596=	ENST00000368069		596	ccC/ccT	0																																																																																																																																																																																																																																												
COPB1	0	broad.mit.edu	GRCh37	11	14498486	14498486	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000249923.3:c.1434G>T	p.Glu478Asp	p.E478D	ENST00000249923	NM_016451.4	478	gaG/gaT	0			1			A	E/D	uc001mli.2	protein_coding	YES	CCDS7815.1			1434/2862									ovary(1)|central_nervous_system(1)	2	c.(1432-1434)GAG>GAT			Gene3D:1.25.10.10,Pfam_domain:PF01602,PIRSF_domain:PIRSF005727,hmmpanther:PTHR10635,Superfamily_domains:SSF48371	coatomer protein complex, subunit beta 1				ENSP00000249923		22-Dec									COSM3397582	22-Dec	.		ENST00000249923	Transcript			COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	ENSG00000129083	g.chr11:14498486C>A	2231			MODERATE		2.36	medium	getma.org/?cm=msa&ty=f&p=COPB_HUMAN&rb=18&re=539&var=E478D	NA	getma.org/?cm=var&var=hg19,11,14498486,C,A&fts=all	E478D	--	--	1																																		COPB1_uc001mlg.2_Missense_Mutation_p.E478D|COPB1_uc001mlh.2_Missense_Mutation_p.E478D	1	1		benign(0.374)	p.E478D	NM_016451	NP_057535		tolerated(0.21)	1	COPB_HUMAN	COPB1	HGNC	P53618	COPB_HUMAN			E9PP63_HUMAN,E9PKQ1_HUMAN		12	1741	-			UPI000000103D	478					SNV	COPB1,missense_variant,p.Glu478Asp,ENST00000249923,NM_016451.4;COPB1,missense_variant,p.Glu478Asp,ENST00000439561,NM_001144061.1,NM_001144062.1;COPB1,missense_variant,p.Glu478Asp,ENST00000534234,;RNU7-49P,upstream_gene_variant,,ENST00000516182,;COPB1,upstream_gene_variant,,ENST00000526191,;	uc001mli.2	c.1434G>T	1735/3481	2	2			c.1434G>T						11	SNP	c.(1432-1434)GAG>GAT	36	36			ovary(1)|central_nervous_system(1)	2	Broad	coatomer protein complex, subunit beta 1			14498486		0.373	ENSG00000129083	3663	g.chr11:14498486C>A	COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity							371.102502	KEEP	59	88	0.598639456	78	96	59	88	0.598639456	371.446028	78	96	0.462633	1	0	0	0	0	1	0	0	0	--	--		0	A			COPB1_uc001mlg.2_Missense_Mutation_p.E478D|COPB1_uc001mlh.2_Missense_Mutation_p.E478D	218	GBM-28-5209-TP	p.E478D	C	ACCTGCGGATCTCAGTCATCA	NM_016451	NP_057535	14498486	P53618	COPB_HUMAN	0			12	1741	-	A	A			Missense_Mutation	478						
COPG1	0	broad.mit.edu	GRCh37	3	128982760	128982760	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-4925-01	TCGA-76-4925-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314797.6:c.1142A>G	p.Gln381Arg	p.Q381R	ENST00000314797	NM_016128.3	381	cAg/cGg	0			1			G	Q/R	uc003els.2	protein_coding	YES	CCDS33851.1			1142/2625									ovary(3)|breast(1)	4	c.(1141-1143)CAG>CGG			Gene3D:1.25.10.10,Pfam_domain:PF01602,PIRSF_domain:PIRSF037093,hmmpanther:PTHR10261,hmmpanther:PTHR10261:SF3,Superfamily_domains:SSF48371	coatomer protein complex, subunit gamma 1				ENSP00000325002		13/24									COSM2157495	13/24	.		ENST00000314797	Transcript			COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	ENSG00000181789	g.chr3:128982760A>G	2236			MODERATE		0.505	neutral	getma.org/?cm=msa&ty=f&p=COPG1_HUMAN&rb=201&re=400&var=Q381R	NA	getma.org/?cm=var&var=hg19,3,128982760,A,G&fts=all	Q381R	--	--	1																																		COPG_uc010htb.2_Missense_Mutation_p.Q287R	1	1		benign(0.035)	p.Q381R	NM_016128	NP_057212		tolerated(0.15)	1	COPG1_HUMAN	COPG1	HGNC	Q9Y678	COPG_HUMAN			Q8WUI6_HUMAN		13	1242	+			UPI000000095F	381			HEAT 4.		SNV	COPG1,missense_variant,p.Gln381Arg,ENST00000314797,NM_016128.3;COPG1,upstream_gene_variant,,ENST00000509889,;COPG1,non_coding_transcript_exon_variant,,ENST00000515725,;COPG1,non_coding_transcript_exon_variant,,ENST00000504547,;COPG1,non_coding_transcript_exon_variant,,ENST00000513410,;	uc003els.2	c.1142A>G	1246/3076	3	3			c.1142A>G						3	SNP	c.(1141-1143)CAG>CGG	59	59			ovary(3)|breast(1)	4	Broad	coatomer protein complex, subunit gamma 1			128982760		0.537	ENSG00000181789	3666	g.chr3:128982760A>G	COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity							151.815577	KEEP	26	28	-1	44	39	26	28	-1	152.757283	44	39	0.406504	1	0	0	0	0	1	0	0	0	--	--		0	G			COPG_uc010htb.2_Missense_Mutation_p.Q287R	265	GBM-76-4925-TP	p.Q381R	A	GTGGTTGTCCAGGCCATCAGT	NM_016128	NP_057212	128982760	Q9Y678	COPG_HUMAN	0			13	1242	+	G	G			Missense_Mutation	381			HEAT 4.			
COPG2	26958	broad.mit.edu	GRCh37	7	130297070	130297070	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-2567-01	TCGA-06-2567-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000445977.2:c.532A>G	p.Ile178Val	p.I178V	ENST00000445977		178	Atc/Gtc	0			1			C	I/V	uc003vqh.1	protein_coding	YES				532/741										0	c.(532-534)ATC>GTC			hmmpanther:PTHR10261,hmmpanther:PTHR10261:SF4,Pfam_domain:PF01602,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	coatomer protein complex, subunit gamma 2				ENSP00000393912		9-Aug									COSM3411589	9-Aug	.		ENST00000445977	Transcript			intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity	ENSG00000158623	g.chr7:130297070T>C	2237			MODERATE		-1.69	neutral	getma.org/?cm=msa&ty=f&p=F6X838_HUMAN&rb=1&re=200&var=I178V	getma.org/pdb.php?prot=F6X838_HUMAN&from=1&to=200&var=I178V	getma.org/?cm=var&var=hg19,7,130297070,T,C&fts=all	I178V	--	--	1																																			1	1		benign(0.001)	p.I178V	NM_012133	NP_036265		tolerated(1)	1		COPG2	HGNC	Q9UBF2	COPG2_HUMAN			F6X838_HUMAN		8	622	-	Melanoma(18;0.0435)		UPI0000457604	178					SNV	COPG2,missense_variant,p.Ile178Val,ENST00000445977,;COPG2,missense_variant,p.Ile178Val,ENST00000330992,;	uc003vqh.1	c.532A>G	622/831	3	3			c.532A>G						7	SNP	c.(532-534)ATC>GTC	1	1				0	Broad	coatomer protein complex, subunit gamma 2			130297070		0.353	ENSG00000158623	3667	g.chr7:130297070T>C	intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity							89.7172	KEEP	19	16	-1	37	31	19	16	-1	92.353457	37	31	0.313953	1	0	0	0	0	1	0	0	0	--	--		0	C				89	GBM-06-2567-TP	p.I178V	T	GCTTCATTGATCCAGCGCTTA	NM_012133	NP_036265	130297070	Q9UBF2	COPG2_HUMAN	0			8	622	-	C	C	Melanoma(18;0.0435)		Missense_Mutation	178						
COPS3	8533		GRCh37	17	17163668	17163668	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000268717.5:c.883G>T	p.Val295Leu	p.V295L	ENST00000268717	NM_003653.3	295	Gtg/Ttg	0																																																																																																																																																																																																																																												
COPS4	0	broad.mit.edu	GRCh37	4	83970319	83970319	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-6701-01	TCGA-06-6701-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264389.2:c.155T>G	p.Met52Arg	p.M52R	ENST00000264389	NM_016129.2	52	aTg/aGg	0			1			G	M/R	uc003hoa.2	protein_coding	YES	CCDS3600.1			155/1221									kidney(1)	1	c.(154-156)ATG>AGG			hmmpanther:PTHR10855	COP9 signalosome subunit 4				ENSP00000264389		10-Mar	0.000379	9.79E-05	8.71E-05	0.000116	0.002	7.57E-05		0.000305	rs775763443,COSM3748278	10-Mar	common_variant		ENST00000264389	Transcript			cullin deneddylation	cytoplasm|signalosome	protein binding	ENSG00000138663	g.chr4:83970319T>G	16702			MODERATE		1.585	low	getma.org/?cm=msa&ty=f&p=CSN4_HUMAN&rb=1&re=200&var=M52R	NA	getma.org/?cm=var&var=hg19,4,83970319,T,G&fts=all	M52R	--	--	1																																		COPS4_uc003hob.2_Missense_Mutation_p.M52R|COPS4_uc010ijw.2_Missense_Mutation_p.M52R|COPS4_uc010ijx.2_Missense_Mutation_p.M52R	0,1	1		benign(0.001)	p.M52R	NM_016129	NP_057213		deleterious(0.05)	0,1	CSN4_HUMAN	COPS4	HGNC	Q9BT78	CSN4_HUMAN					3	294	+		Hepatocellular(203;0.114)	UPI0000037722	52					SNV	COPS4,missense_variant,p.Met52Arg,ENST00000509093,NM_001258006.1;COPS4,missense_variant,p.Met52Arg,ENST00000264389,NM_016129.2;COPS4,missense_variant,p.Met52Arg,ENST00000503682,;COPS4,missense_variant,p.Met52Arg,ENST00000511653,;COPS4,intron_variant,,ENST00000509317,;COPS4,splice_region_variant,,ENST00000511708,;COPS4,splice_region_variant,,ENST00000506443,;COPS4,splice_region_variant,,ENST00000510801,;COPS4,splice_region_variant,,ENST00000511891,;COPS4,splice_region_variant,,ENST00000507376,;	uc003hoa.2	c.155T>G	290/1744	4	4			c.155T>G						4	SNP	c.(154-156)ATG>AGG	18	18			kidney(1)	1	Broad	COP9 signalosome subunit 4			83970319		0.318	ENSG00000138663	3670	g.chr4:83970319T>G	cullin deneddylation	cytoplasm|signalosome	protein binding							-7.090063	KEEP	8	14	-1	48	33	8	14	-1	6.486762	48	33	0.08	1	0	0	0	0	1	0	0	0	--	--		0	G			COPS4_uc003hob.2_Missense_Mutation_p.M52R|COPS4_uc010ijw.2_Missense_Mutation_p.M52R|COPS4_uc010ijx.2_Missense_Mutation_p.M52R	115	GBM-06-6701-TP	p.M52R	T	TTTAAACAAGTGGTAAATGAG	NM_016129	NP_057213	83970319	Q9BT78	CSN4_HUMAN	0			3	294	+	G	G		Hepatocellular(203;0.114)	Missense_Mutation	52						
COQ4	51117	broad.mit.edu	GRCh37	9	131088069	131088069	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0216-01	TCGA-06-0216-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300452.3:c.311G>A	p.Arg104Gln	p.R104Q	ENST00000300452	NM_016035.3	104	cGg/cAg	0			1			A	R/Q	uc004bur.3	protein_coding	YES	CCDS6898.1			311/798										0	c.(310-312)CGG>CAG			HAMAP:MF_03111,hmmpanther:PTHR12922:SF7,hmmpanther:PTHR12922,Pfam_domain:PF05019	coenzyme Q4 homolog precursor				ENSP00000300452		7-Apr									rs572683310,COSM2150913	7-Apr	.		ENST00000300452	Transcript	1		ubiquinone biosynthetic process	mitochondrial inner membrane		ENSG00000167113	g.chr9:131088069G>A	19693			MODERATE		2.98	medium	getma.org/?cm=msa&ty=f&p=COQ4_HUMAN&rb=38&re=259&var=R104Q	getma.org/pdb.php?prot=COQ4_HUMAN&from=38&to=259&var=R104Q	getma.org/?cm=var&var=hg19,9,131088069,G,A&fts=all	R104Q	--	--	1																																		COQ4_uc011max.1_Missense_Mutation_p.R104Q|COQ4_uc004bus.2_Missense_Mutation_p.R80Q|COQ4_uc010mxy.2_Missense_Mutation_p.R80Q	0,1	1		probably_damaging(1)	p.R104Q	NM_016035	NP_057119		deleterious(0.02)	0,1	COQ4_HUMAN	COQ4	HGNC	Q9Y3A0	COQ4_HUMAN					4	658	+			UPI000013E660	104					SNV	COQ4,missense_variant,p.Arg104Gln,ENST00000300452,NM_016035.3;COQ4,missense_variant,p.Arg104Gln,ENST00000372875,;TRUB2,upstream_gene_variant,,ENST00000372890,NM_015679.1;TRUB2,upstream_gene_variant,,ENST00000546104,;COQ4,downstream_gene_variant,,ENST00000609948,;COQ4,downstream_gene_variant,,ENST00000608951,;COQ4,upstream_gene_variant,,ENST00000461102,;TRUB2,upstream_gene_variant,,ENST00000460320,;	uc004bur.3	c.311G>A	634/1548	2	2			c.311G>A						9	SNP	c.(310-312)CGG>CAG	21	21				0	Broad	coenzyme Q4 homolog precursor			131088069		0.587	ENSG00000167113	3682	g.chr9:131088069G>A	ubiquinone biosynthetic process	mitochondrial inner membrane								154.206801	KEEP	29	27	-1	46	28	29	27	-1	154.579209	46	28	0.440678	1	0	0	0	0	1	0	0	0	--	--		0	A			COQ4_uc011max.1_Missense_Mutation_p.R104Q|COQ4_uc004bus.2_Missense_Mutation_p.R80Q|COQ4_uc010mxy.2_Missense_Mutation_p.R80Q	51	GBM-06-0216-TP	p.R104Q	G	GAGCGTCCCCGGATTTCGACA	NM_016035	NP_057119	131088069	Q9Y3A0	COQ4_HUMAN	0			4	658	+	A	A			Missense_Mutation	104						
COQ9	0	broad.mit.edu	GRCh37	16	57492187	57492187	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01	TCGA-32-2491-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262507.6:c.636C>G	p.Asn212Lys	p.N212K	ENST00000262507	NM_020312.3	212	aaC/aaG	0			1			G	N/K	uc002elq.2	protein_coding	YES	CCDS32459.1			636/957									breast(1)	1	c.(634-636)AAC>AAG			Pfam_domain:PF08511,hmmpanther:PTHR21427,TIGRFAM_domain:TIGR02396	coenzyme Q9 homolog precursor				ENSP00000262507		9-Jun									COSM3402384	9-Jun	.		ENST00000262507	Transcript	1		ubiquinone biosynthetic process	mitochondrion		ENSG00000088682	g.chr16:57492187C>G	25302			MODERATE		3.45	medium	getma.org/?cm=msa&ty=f&p=COQ9_HUMAN&rb=210&re=288&var=N212K	NA	getma.org/?cm=var&var=hg19,16,57492187,C,G&fts=all	N212K	--	--	1																																		COQ9_uc002elr.2_Missense_Mutation_p.N177K|COQ9_uc002els.2_Missense_Mutation_p.N5K	1	1		possibly_damaging(0.883)	p.N212K	NM_020312	NP_064708		deleterious(0.04)	1	COQ9_HUMAN	COQ9	HGNC	O75208	COQ9_HUMAN			H3BPY0_HUMAN,B4DEE3_HUMAN		6	652	+			UPI0000070ECA	212					SNV	COQ9,missense_variant,p.Asn212Lys,ENST00000262507,NM_020312.3;COQ9,missense_variant,p.Asn177Lys,ENST00000567072,;COQ9,missense_variant,p.Asn216Lys,ENST00000564655,;COQ9,missense_variant,p.Asn76Lys,ENST00000563391,;COQ9,missense_variant,p.Asn136Lys,ENST00000565964,;COQ9,intron_variant,,ENST00000567933,;COQ9,intron_variant,,ENST00000563166,;POLR2C,upstream_gene_variant,,ENST00000219252,NM_032940.2;POLR2C,upstream_gene_variant,,ENST00000564651,;AC009052.12,upstream_gene_variant,,ENST00000567090,;COQ9,missense_variant,p.Thr184Arg,ENST00000564115,;COQ9,non_coding_transcript_exon_variant,,ENST00000569980,;COQ9,downstream_gene_variant,,ENST00000566388,;POLR2C,upstream_gene_variant,,ENST00000567982,;POLR2C,upstream_gene_variant,,ENST00000563115,;COQ9,downstream_gene_variant,,ENST00000562734,;COQ9,downstream_gene_variant,,ENST00000568790,;COQ9,downstream_gene_variant,,ENST00000562426,;POLR2C,upstream_gene_variant,,ENST00000562953,;POLR2C,upstream_gene_variant,,ENST00000562599,;COQ9,downstream_gene_variant,,ENST00000567576,;COQ9,downstream_gene_variant,,ENST00000567480,;POLR2C,upstream_gene_variant,,ENST00000564626,;	uc002elq.2	c.636C>G	705/1677	3	3			c.636C>G						16	SNP	c.(634-636)AAC>AAG	60	60			breast(1)	1	Broad	coenzyme Q9 homolog precursor			57492187		0.562	ENSG00000088682	3686	g.chr16:57492187C>G	ubiquinone biosynthetic process	mitochondrion								2.731995	KEEP	0	2	-1	11	13	0	2	-1	6.44379	11	13	0.090909	1	0	0	0	0	1	0	0	0	--	--		0	G			COQ9_uc002elr.2_Missense_Mutation_p.N177K|COQ9_uc002els.2_Missense_Mutation_p.N5K	235	GBM-32-2491-TP	p.N212K	C	TCCCTCACAACATCCCGTCCA	NM_020312	NP_064708	57492187	O75208	COQ9_HUMAN	0			6	652	+	G	G			Missense_Mutation	212						
CORIN	10699	broad.mit.edu	GRCh37	4	47625643	47625643	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-2558-01	TCGA-06-2558-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273857.4:c.2485G>T	p.Gly829Cys	p.G829C	ENST00000273857	NM_006587.3	829	Ggc/Tgc	0			1			A	G/C	uc003gxm.2	protein_coding	YES	CCDS3477.1			2485/3129								p.G829G(1)	ovary(1)|central_nervous_system(1)	2	c.(2485-2487)GGC>TGC			PROSITE_profiles:PS50240,hmmpanther:PTHR24270,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,PIRSF_domain:PIRSF036376,Superfamily_domains:SSF50494	corin				ENSP00000273857		19/22									COSM3409326	19/22	.		ENST00000273857	Transcript	1		peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	ENSG00000145244	g.chr4:47625643C>A	19012			MODERATE		3.825	high	getma.org/?cm=msa&ty=f&p=CORIN_HUMAN&rb=802&re=1030&var=G829C	getma.org/pdb.php?prot=CORIN_HUMAN&from=802&to=1030&var=G829C	getma.org/?cm=var&var=hg19,4,47625643,C,A&fts=all	G829C	--	--	1																																		CORIN_uc011bzf.1_Missense_Mutation_p.G690C|CORIN_uc011bzg.1_Missense_Mutation_p.G762C	1	1		probably_damaging(1)	p.G829C	NM_006587	NP_006578		deleterious(0)	1	CORIN_HUMAN	CORIN	HGNC	Q9Y5Q5	CORIN_HUMAN			Q8IZR7_HUMAN,E7EQE7_HUMAN		19	2578	-			UPI0000168657	829			Extracellular (Potential).|Peptidase S1.		SNV	CORIN,missense_variant,p.Gly829Cys,ENST00000273857,NM_006587.3;CORIN,missense_variant,p.Gly690Cys,ENST00000508498,;CORIN,missense_variant,p.Gly762Cys,ENST00000502252,NM_001278585.1;CORIN,missense_variant,p.Gly792Cys,ENST00000505909,;CORIN,non_coding_transcript_exon_variant,,ENST00000515827,;	uc003gxm.2	c.2485G>T	2485/4852	2	2			c.2485G>T						4	SNP	c.(2485-2487)GGC>TGC	35	35		p.G829G(1)	ovary(1)|central_nervous_system(1)	2	Broad	corin			47625643		0.527	ENSG00000145244	3687	g.chr4:47625643C>A	peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity							-6.69433	KEEP	2	3	0.6	39	51	2	3	0.6	10.632657	39	51	0.058824	1	0	0	0	0	1	0	0	0	--	--		0	A			CORIN_uc011bzf.1_Missense_Mutation_p.G690C|CORIN_uc011bzg.1_Missense_Mutation_p.G762C	82	GBM-06-2558-TP	p.G829C	C	AGGACACAGCCACAGATATGT	NM_006587	NP_006578	47625643	Q9Y5Q5	CORIN_HUMAN	0			19	2578	-	A	A			Missense_Mutation	829			Extracellular (Potential).|Peptidase S1.			
CORIN	0	broad.mit.edu	GRCh37	4	47679958	47679958	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149563697	byFrequency	TCGA-28-5214-01	TCGA-28-5214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273857.4:c.1246G>A	p.Val416Ile	p.V416I	ENST00000273857	NM_006587.3	416	Gtc/Atc	0	T:0.0036	T:0.0053	1	T:0		T	V/I	uc003gxm.2	protein_coding	YES	CCDS3477.1			1246/3129									ovary(1)|central_nervous_system(1)	2	c.(1246-1248)GTC>ATC			hmmpanther:PTHR24270,Gene3D:1n7dA02,SMART_domains:SM00192,PIRSF_domain:PIRSF036376,Superfamily_domains:SSF57424	corin		T:0.002	T:0.0002	ENSP00000273857	T:0.003	22-Sep	0.000914	0.00471	0.000347	0.00035	0.00606	0.00021	0.00111		rs149563697,COSM3409327	22-Sep	common_variant		ENST00000273857	Transcript	1	T:0.0024	peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	ENSG00000145244	g.chr4:47679958C>T	19012			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CORIN_HUMAN&rb=415&re=454&var=V416I	NA	getma.org/?cm=var&var=hg19,4,47679958,C,T&fts=all	V416I	--	--	1																																		CORIN_uc011bzf.1_Missense_Mutation_p.V277I|CORIN_uc011bzg.1_Missense_Mutation_p.V349I|CORIN_uc011bzh.1_Missense_Mutation_p.V379I|CORIN_uc011bzi.1_Missense_Mutation_p.V379I	0,1	1		benign(0.001)	p.V416I	NM_006587	NP_006578	T:0	tolerated(0.18)	0,1	CORIN_HUMAN	CORIN	HGNC	Q9Y5Q5	CORIN_HUMAN			Q8IZR7_HUMAN,E7EQE7_HUMAN		9	1339	-			UPI0000168657	416			Extracellular (Potential).		SNV	CORIN,missense_variant,p.Val416Ile,ENST00000273857,NM_006587.3;CORIN,missense_variant,p.Val277Ile,ENST00000508498,;CORIN,missense_variant,p.Val349Ile,ENST00000502252,NM_001278585.1;CORIN,missense_variant,p.Val379Ile,ENST00000505909,;CORIN,missense_variant,p.Val379Ile,ENST00000504584,NM_001278586.1;CORIN,non_coding_transcript_exon_variant,,ENST00000503821,;CORIN,downstream_gene_variant,,ENST00000502726,;	uc003gxm.2	c.1246G>A	1246/4852	1	1			c.1246G>A						4	SNP	c.(1246-1248)GTC>ATC	3	3			ovary(1)|central_nervous_system(1)	2	Broad	corin			47679958		0.493	ENSG00000145244	3687	g.chr4:47679958C>T	peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity							106.716961	KEEP	27	15	-1	30	48	27	15	-1	108.587681	30	48	0.358491	1	0	0	0	0	1	0	0	0	--	--		0	T			CORIN_uc011bzf.1_Missense_Mutation_p.V277I|CORIN_uc011bzg.1_Missense_Mutation_p.V349I|CORIN_uc011bzh.1_Missense_Mutation_p.V379I|CORIN_uc011bzi.1_Missense_Mutation_p.V379I	221	GBM-28-5214-TP	p.V416I	C	CACTTACTGACGCTGCAGTTC	NM_006587	NP_006578	47679958	Q9Y5Q5	CORIN_HUMAN	0			9	1339	-	T	T			Missense_Mutation	416			Extracellular (Potential).			
CORO1A	0	broad.mit.edu	GRCh37	16	30198720	30198720	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000219150.5:c.654C>T	p.His218=	p.H218=	ENST00000219150	NM_007074.3	218	caC/caT	0			1			T	H	uc002dww.2	protein_coding	YES	CCDS10673.1			654/1386										0	c.(652-654)CAC>CAT			hmmpanther:PTHR10856,hmmpanther:PTHR10856:SF18,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	coronin, actin binding protein, 1A				ENSP00000219150		11-Jun	8.24E-06					1.53E-05			rs772017896,COSM3111891	11-Jun	.		ENST00000219150	Transcript	1		cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity	ENSG00000102879	g.chr16:30198720C>T	2252			LOW								--	--	1																																		uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010bzq.2_Silent_p.H218H|CORO1A_uc010bzr.2_Silent_p.H218H|CORO1A_uc002dwx.2_Silent_p.H112H|CORO1A_uc002dwy.1_Silent_p.H62H|LOC606724_uc002dwz.1_5'Flank	0,1	1			p.H218H	NM_007074	NP_009005			0,1	COR1A_HUMAN	CORO1A	HGNC	P31146	COR1A_HUMAN			H3BU76_HUMAN,H3BRJ0_HUMAN,H3BNA2_HUMAN		6	776	+			UPI00000413AE	218			WD 5.		SNV	CORO1A,synonymous_variant,p.=,ENST00000219150,NM_007074.3,NM_001193333.2;CORO1A,synonymous_variant,p.=,ENST00000570045,;CORO1A,synonymous_variant,p.=,ENST00000565497,;CORO1A,synonymous_variant,p.=,ENST00000563778,;CORO1A,synonymous_variant,p.=,ENST00000570244,;CORO1A,downstream_gene_variant,,ENST00000569970,;CORO1A,downstream_gene_variant,,ENST00000561815,;CORO1A,downstream_gene_variant,,ENST00000569203,;RP11-455F5.5,upstream_gene_variant,,ENST00000567153,;RP11-455F5.5,upstream_gene_variant,,ENST00000568506,;RP11-455F5.5,upstream_gene_variant,,ENST00000566144,;CORO1A,downstream_gene_variant,,ENST00000566619,;CORO1A,downstream_gene_variant,,ENST00000569469,;CORO1A,downstream_gene_variant,,ENST00000564446,;CORO1A,non_coding_transcript_exon_variant,,ENST00000567034,;CORO1A,non_coding_transcript_exon_variant,,ENST00000568763,;CORO1A,non_coding_transcript_exon_variant,,ENST00000564768,;CORO1A,downstream_gene_variant,,ENST00000568982,;CORO1A,downstream_gene_variant,,ENST00000561849,;CORO1A,upstream_gene_variant,,ENST00000562129,;	uc002dww.2	c.654C>T	959/1803	1	1			c.654C>T						16	SNP	c.(652-654)CAC>CAT	8	8				0	Broad	coronin, actin binding protein, 1A			30198720		0.667	ENSG00000102879	3688	g.chr16:30198720C>T	cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity							108.986465	KEEP	19	19	-1	15	16	19	19	-1	109.374005	15	16	0.586207	1	0	0	0	0	0	0	1	0	--	--		0	T			uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010bzq.2_Silent_p.H218H|CORO1A_uc010bzr.2_Silent_p.H218H|CORO1A_uc002dwx.2_Silent_p.H112H|CORO1A_uc002dwy.1_Silent_p.H62H|LOC606724_uc002dwz.1_5'Flank	159	GBM-19-1390-TP	p.H218H	C	ACCGTCCCCACGAGGGGACCC	NM_007074	NP_009005	30198720	P31146	COR1A_HUMAN	0			6	776	+	T	T			Silent	218			WD 5.			
CORO7	0	broad.mit.edu	GRCh37	16	4414382	4414382	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-5220-01	TCGA-28-5220-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251166.4:c.1170G>A	p.Arg390=	p.R390=	ENST00000251166	NM_024535.4	390	cgG/cgA	0			1			T	R	uc002cwh.3	protein_coding	YES	CCDS10513.1			1170/2778										0	c.(1168-1170)CGG>CGA			hmmpanther:PTHR10856:SF20,hmmpanther:PTHR10856	coronin 7				ENSP00000251166		14/28									COSM3402328	14/28	.		ENST00000251166	Transcript				cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction		ENSG00000262246	g.chr16:4414382C>T	26161			LOW								--	--	1																																		CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Silent_p.R390R|CORO7_uc002cwg.3_Silent_p.R170R|CORO7_uc010uxh.1_Silent_p.R372R|CORO7_uc010uxi.1_Silent_p.R305R|CORO7_uc002cwi.1_Silent_p.R170R|CORO7_uc010uxj.1_RNA|CORO7_uc010btp.1_Silent_p.R170R	1	1			p.R390R	NM_024535	NP_078811			1	CORO7_HUMAN	CORO7	HGNC	P57737	CORO7_HUMAN			I3L258_HUMAN,B3KSY4_HUMAN		14	1290	-			UPI00001FF898	390					SNV	CORO7,synonymous_variant,p.=,ENST00000251166,NM_024535.4;CORO7,synonymous_variant,p.=,ENST00000539968,;CORO7,synonymous_variant,p.=,ENST00000537233,NM_001201472.1;CORO7-PAM16,synonymous_variant,p.=,ENST00000572467,NM_001201479.1;CORO7,synonymous_variant,p.=,ENST00000574025,NM_001201473.1;CORO7,synonymous_variant,p.=,ENST00000423908,;CORO7,downstream_gene_variant,,ENST00000572549,;CORO7,downstream_gene_variant,,ENST00000572044,;CORO7-PAM16,synonymous_variant,p.=,ENST00000575334,;CORO7,synonymous_variant,p.=,ENST00000574311,;CORO7,3_prime_UTR_variant,,ENST00000571227,;CORO7,3_prime_UTR_variant,,ENST00000571756,;CORO7,non_coding_transcript_exon_variant,,ENST00000575714,;CORO7,non_coding_transcript_exon_variant,,ENST00000573773,;CORO7,intron_variant,,ENST00000576437,;CORO7,upstream_gene_variant,,ENST00000575531,;CORO7,upstream_gene_variant,,ENST00000572666,;CORO7,upstream_gene_variant,,ENST00000576637,;CORO7,upstream_gene_variant,,ENST00000572125,;	uc002cwh.3	c.1170G>A	1316/3540	2	2			c.1170G>A						16	SNP	c.(1168-1170)CGG>CGA	46	46				0	Broad	coronin 7			4414382		0.701	ENSG00000262246	3694	g.chr16:4414382C>T		cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction								48.395923	KEEP	10	6	-1	11	7	10	6	-1	48.462795	11	7	0.551724	1	0	0	0	0	0	0	1	0	--	--		0	T			CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Silent_p.R390R|CORO7_uc002cwg.3_Silent_p.R170R|CORO7_uc010uxh.1_Silent_p.R372R|CORO7_uc010uxi.1_Silent_p.R305R|CORO7_uc002cwi.1_Silent_p.R170R|CORO7_uc010uxj.1_RNA|CORO7_uc010btp.1_Silent_p.R170R	226	GBM-28-5220-TP	p.R390R	C	TCGGGTGGGGCCGGCAGGCGG	NM_024535	NP_078811	4414382	P57737	CORO7_HUMAN	0			14	1290	-	T	T			Silent	390						
CORO7	79585		GRCh37	16	4411454	4411454	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000251166.4:c.1595G>A	p.Arg532His	p.R532H	ENST00000251166	NM_024535.4	532	cGc/cAc	0																																																																																																																																																																																																																																												
CORT	1325	broad.mit.edu	GRCh37	1	10511616	10511616	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0216-01	TCGA-06-0216-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377049.3:c.282G>T	p.Arg94Ser	p.R94S	ENST00000377049	NM_001302.4	94	agG/agT	0			1			T	R/S	uc001arf.2	protein_coding	YES	CCDS114.1			459/495									ovary(1)	1	c.(457-459)AGG>AGT			Pfam_domain:PF03002,hmmpanther:PTHR22980,hmmpanther:PTHR22980:SF3	apoptosis-inducing, TAF9-like domain 1 isoform				ENSP00000383692		5-May									COSM2150915,COSM2150916	5-May	.		ENST00000400900	Transcript			DNA repair|mitotic prometaphase|transcription initiation, DNA-dependent	chromosome, centromeric region|cytosol|Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding	ENSG00000251503	g.chr1:10511616G>T	38843			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CORT_HUMAN&rb=67&re=105&var=R94S	NA	getma.org/?cm=var&var=hg19,1,10511616,G,T&fts=all	R94S	--	--	1																																		APITD1_uc001arg.2_3'UTR|CORT_uc001ari.2_Missense_Mutation_p.R144S	1,1	1		benign(0.001)	p.R153S	NM_198544	NP_940946		deleterious_low_confidence(0)	1,1		APITD1-CORT	HGNC	Q8N2Z9	CENPS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.31e-07)|COAD - Colon adenocarcinoma(227;7.32e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)			5	875	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	UPI000007101C	Error:Variant_position_missing_in_Q8N2Z9_after_alignment					SNV	APITD1-CORT,missense_variant,p.Arg153Ser,ENST00000400900,;APITD1,missense_variant,p.Arg153Ser,ENST00000602787,NM_198544.3;CORT,missense_variant,p.Arg94Ser,ENST00000377049,NM_001302.4;CORT,missense_variant,p.Arg144Ser,ENST00000320498,;APITD1,3_prime_UTR_variant,,ENST00000602296,NM_199006.2;APITD1-CORT,3_prime_UTR_variant,,ENST00000602446,;APITD1-CORT,3_prime_UTR_variant,,ENST00000470413,;DFFA,downstream_gene_variant,,ENST00000377038,NM_004401.2;APITD1-CORT,non_coding_transcript_exon_variant,,ENST00000465026,;	uc001arf.2	c.459G>T	875/1469	1	1			c.459G>T						1	SNP	c.(457-459)AGG>AGT	7	7			ovary(1)	1	Broad	apoptosis-inducing, TAF9-like domain 1 isoform			10511616		0.567	ENSG00000251503	760	g.chr1:10511616G>T	DNA repair|mitotic prometaphase|transcription initiation, DNA-dependent	chromosome, centromeric region|cytosol|Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding							56.597144	KEEP	14	7	0.666666667	12	12	14	7	0.666666667	56.642423	12	12	0.465116	1	0	0	0	0	1	0	0	0	--	--		0	T			APITD1_uc001arg.2_3'UTR|CORT_uc001ari.2_Missense_Mutation_p.R144S	51	GBM-06-0216-TP	p.R153S	G	TGCCCTGCAGGAACTTCTTCT	NM_198544	NP_940946	10511616	Q8N2Z9	CENPS_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.31e-07)|COAD - Colon adenocarcinoma(227;7.32e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)	5	875	+	T	T	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	Error:Variant_position_missing_in_Q8N2Z9_after_alignment						
COX10	1352	broad.mit.edu	GRCh37	17	14110273	14110273	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01	TCGA-06-0122-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261643.3:c.1075C>T	p.Arg359Cys	p.R359C	ENST00000261643	NM_001303.3	359	Cgc/Tgc	0			1			T	R/C	uc002gof.3	protein_coding	YES	CCDS11166.1			1075/1332										0	c.(1075-1077)CGC>TGC			HAMAP:MF_00154,Pfam_domain:PF01040,PIRSF_domain:PIRSF001773,hmmpanther:PTHR11048,hmmpanther:PTHR11048:SF3,TIGRFAM_domain:TIGR01473	heme A:farnesyltransferase precursor				ENSP00000261643		7-Jul									COSM2149233	7-Jul	.		ENST00000261643	Transcript	1		heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity	ENSG00000006695	g.chr17:14110273C>T	2260			MODERATE		3.295	medium	getma.org/?cm=msa&ty=f&p=COX10_HUMAN&rb=166&re=426&var=R359C	NA	getma.org/?cm=var&var=hg19,17,14110273,C,T&fts=all	R359C	--	--	1																																		COX10_uc010vvs.1_Missense_Mutation_p.R142C|COX10_uc010vvt.1_Missense_Mutation_p.R167C	1	1		probably_damaging(1)	p.R359C	NM_001303	NP_001294		deleterious(0)	1	COX10_HUMAN	COX10	HGNC	Q12887	COX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)	B4DFR1_HUMAN		7	1279	+		all_lung(20;0.06)|Lung SC(565;0.168)	UPI000013D1C8	359					SNV	COX10,missense_variant,p.Arg359Cys,ENST00000261643,NM_001303.3;COX10,missense_variant,p.Arg167Cys,ENST00000536205,;COX10,missense_variant,p.Arg142Cys,ENST00000537334,;AC005224.2,upstream_gene_variant,,ENST00000458492,;COX10,3_prime_UTR_variant,,ENST00000581931,;COX10,3_prime_UTR_variant,,ENST00000580561,;	uc002gof.3	c.1075C>T	1152/2873	2	2			c.1075C>T						17	SNP	c.(1075-1077)CGC>TGC	26	26				0	Broad	heme A:farnesyltransferase precursor			14110273		0.657	ENSG00000006695	3697	g.chr17:14110273C>T	heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity							77.490795	KEEP	19	14	-1	46	36	19	14	-1	81.727964	46	36	0.28972	1	0	0	0	0	1	0	0	0	--	--		0	T			COX10_uc010vvs.1_Missense_Mutation_p.R142C|COX10_uc010vvt.1_Missense_Mutation_p.R167C	10	GBM-06-0122-TP	p.R359C	C	CGTGGCGCTGCGCCACTGCCT	NM_001303	NP_001294	14110273	Q12887	COX10_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)	7	1279	+	T	T		all_lung(20;0.06)|Lung SC(565;0.168)	Missense_Mutation	359						
COX10	1352		GRCh37	17	14110443	14110443	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000261643.3:c.1245C>A	p.Ser415Arg	p.S415R	ENST00000261643	NM_001303.3	415	agC/agA	0																																																																																																																																																																																																																																												
COX7C	0	broad.mit.edu	GRCh37	5	85915176	85915176	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01	TCGA-27-1838-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000247655.3:c.82C>T	p.Pro28Ser	p.P28S	ENST00000247655		28	Cca/Tca	0			1			T	P/S	uc003kir.2	protein_coding		CCDS4063.1			82/192										0	c.(82-84)CCA>TCA			hmmpanther:PTHR13313,hmmpanther:PTHR13313:SF0,Gene3D:1v54L00,Pfam_domain:PF02935,Superfamily_domains:0041787	cytochrome c oxidase subunit VIIc precursor				ENSP00000247655		3-Feb									COSM3410456	3-Feb	.		ENST00000247655	Transcript			respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity	ENSG00000127184	g.chr5:85915176C>T	2292			MODERATE								--	--	1																																			1			probably_damaging(0.911)	p.P28S	NM_001867	NP_001858		tolerated(0.05)	1	COX7C_HUMAN	COX7C	HGNC	P15954	COX7C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.56e-40)|Epithelial(54;3.17e-34)|all cancers(79;3.36e-29)			2	171	+		all_cancers(142;7e-06)|Lung NSC(167;0.000601)|all_lung(232;0.000693)|Ovarian(174;0.0423)	UPI000000108B	28			Mitochondrial matrix (By similarity).		SNV	COX7C,missense_variant,p.Pro28Ser,ENST00000509578,;COX7C,missense_variant,p.Pro28Ser,ENST00000247655,;COX7C,missense_variant,p.Pro28Ser,ENST00000515763,NM_001867.2;MIR3607,upstream_gene_variant,,ENST00000362392,;COX7C,non_coding_transcript_exon_variant,,ENST00000513124,;COX7C,non_coding_transcript_exon_variant,,ENST00000510447,;COX7C,non_coding_transcript_exon_variant,,ENST00000505430,;COX7C,non_coding_transcript_exon_variant,,ENST00000511472,;	uc003kir.2	c.82C>T	234/666	1	1			c.82C>T						5	SNP	c.(82-84)CCA>TCA	11	11				0	Broad	cytochrome c oxidase subunit VIIc precursor			85915176		0.338	ENSG00000127184	3719	g.chr5:85915176C>T	respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity							-51.836862	KEEP	4	1	-1	148	105	4	1	-1	8.104766	148	105	0.021368	1	0	0	0	0	1	0	0	0	--	--		0	T				197	GBM-27-1838-TP	p.P28S	C	ACAGAATTTGCCATTTTCAGT	NM_001867	NP_001858	85915176	P15954	COX7C_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(54;1.56e-40)|Epithelial(54;3.17e-34)|all cancers(79;3.36e-29)	2	171	+	T	T		all_cancers(142;7e-06)|Lung NSC(167;0.000601)|all_lung(232;0.000693)|Ovarian(174;0.0423)	Missense_Mutation	28			Mitochondrial matrix (By similarity).			
CP	0	broad.mit.edu	GRCh37	3	148903188	148903188	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01	TCGA-19-2629-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264613.6:c.2123G>A	p.Gly708Asp	p.G708D	ENST00000264613	NM_000096.3	708	gGc/gAc	0			1			T	G/D	uc003ewy.3	protein_coding	YES	CCDS3141.1			2123/3198									ovary(1)	1	c.(2122-2124)GGC>GAC			Gene3D:2.60.40.420,PROSITE_patterns:PS00079,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF294,Superfamily_domains:SSF49503	ceruloplasmin precursor	Drotrecogin alfa(DB00055)			ENSP00000264613		19-Dec									COSM3408341	19-Dec	.		ENST00000264613	Transcript	1		cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	ENSG00000047457	g.chr3:148903188C>T	2295			MODERATE		3.995	high	getma.org/?cm=msa&ty=f&p=CERU_HUMAN&rb=370&re=718&var=G708D	getma.org/pdb.php?prot=CERU_HUMAN&from=370&to=718&var=G708D	getma.org/?cm=var&var=hg19,3,148903188,C,T&fts=all	G708D	--	--	1																																		CP_uc011bnr.1_RNA|CP_uc003ewx.3_Missense_Mutation_p.G489D|CP_uc003ewz.2_Missense_Mutation_p.G708D	1	1		probably_damaging(1)	p.G708D	NM_000096	NP_000087		deleterious(0)	1	CERU_HUMAN	CP	HGNC	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)				12	2376	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	UPI000045718B	708			Plastocyanin-like 4.|F5/8 type A 2.		SNV	CP,missense_variant,p.Gly708Asp,ENST00000264613,NM_000096.3;CP,missense_variant,p.Gly491Asp,ENST00000494544,;CP,non_coding_transcript_exon_variant,,ENST00000462336,;CP,missense_variant,p.Gly637Asp,ENST00000481169,;CP,non_coding_transcript_exon_variant,,ENST00000490639,;CP,non_coding_transcript_exon_variant,,ENST00000497902,;CP,downstream_gene_variant,,ENST00000489736,;CP,downstream_gene_variant,,ENST00000471356,;CP,downstream_gene_variant,,ENST00000497797,;	uc003ewy.3	c.2123G>A	2386/4676	2	2			c.2123G>A						3	SNP	c.(2122-2124)GGC>GAC	35	35			ovary(1)	1	Broad	ceruloplasmin precursor		Drotrecogin alfa(DB00055)	148903188		0.368	ENSG00000047457	3722	g.chr3:148903188C>T	cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity							-41.616231	KEEP	3	5	-1	127	126	3	5	-1	13.989194	127	126	0.034043	1	0	0	0	0	1	0	0	0	--	--		0	T			CP_uc011bnr.1_RNA|CP_uc003ewx.3_Missense_Mutation_p.G489D|CP_uc003ewz.2_Missense_Mutation_p.G708D	166	GBM-19-2629-TP	p.G708D	C	TTGCTTCATGCCGCCTGTGTA	NM_000096	NP_000087	148903188	P00450	CERU_HUMAN	0	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		12	2376	-	T	T		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	Missense_Mutation	708			Plastocyanin-like 4.|F5/8 type A 2.			
CP	0	broad.mit.edu	GRCh37	3	148925268	148925268	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-27-2518-01	TCGA-27-2518-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264613.6:c.918C>A	p.Asn306Lys	p.N306K	ENST00000264613	NM_000096.3	306	aaC/aaA	0			1			T	N/K	uc003ewy.3	protein_coding	YES	CCDS3141.1			918/3198									ovary(1)	1	c.(916-918)AAC>AAA			Gene3D:2.60.40.420,Pfam_domain:PF00394,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF294,Superfamily_domains:SSF49503	ceruloplasmin precursor	Drotrecogin alfa(DB00055)			ENSP00000264613		19-May									COSM2157283	19-May	.		ENST00000264613	Transcript	1		cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	ENSG00000047457	g.chr3:148925268G>T	2295			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=CERU_HUMAN&rb=221&re=358&var=N306K	getma.org/pdb.php?prot=CERU_HUMAN&from=221&to=358&var=N306K	getma.org/?cm=var&var=hg19,3,148925268,G,T&fts=all	N306K	--	--	1																																		CP_uc011bnr.1_RNA|CP_uc003ewx.3_Missense_Mutation_p.N87K|CP_uc003ewz.2_Missense_Mutation_p.N306K|CP_uc010hvf.1_Missense_Mutation_p.N32K	1	1		benign(0.074)	p.N306K	NM_000096	NP_000087		tolerated(0.35)	1	CERU_HUMAN	CP	HGNC	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)				5	1171	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	UPI000045718B	306			F5/8 type A 1.|Plastocyanin-like 2.		SNV	CP,missense_variant,p.Asn306Lys,ENST00000264613,NM_000096.3;CP,missense_variant,p.Asn89Lys,ENST00000494544,;CP,downstream_gene_variant,,ENST00000455472,;CP,missense_variant,p.Asn306Lys,ENST00000481169,;CP,non_coding_transcript_exon_variant,,ENST00000490639,;CP,non_coding_transcript_exon_variant,,ENST00000489736,;	uc003ewy.3	c.918C>A	1181/4676	1	1			c.918C>A						3	SNP	c.(916-918)AAC>AAA	7	7			ovary(1)	1	Broad	ceruloplasmin precursor		Drotrecogin alfa(DB00055)	148925268		0.458	ENSG00000047457	3722	g.chr3:148925268G>T	cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity							105.964856	KEEP	21	23	0.477272727	72	73	21	23	0.477272727	117.126037	72	73	0.237288	1	0	0	0	0	1	0	0	0	--	--		0	T			CP_uc011bnr.1_RNA|CP_uc003ewx.3_Missense_Mutation_p.N87K|CP_uc003ewz.2_Missense_Mutation_p.N306K|CP_uc010hvf.1_Missense_Mutation_p.N32K	198	GBM-27-2518-TP	p.N306K	G	GGTAGTTCTTGTTAGTCAGTG	NM_000096	NP_000087	148925268	P00450	CERU_HUMAN	0	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		5	1171	-	T	T		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	Missense_Mutation	306			F5/8 type A 1.|Plastocyanin-like 2.			
CP	0	broad.mit.edu	GRCh37	3	148901264	148901264	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-32-2491-01	TCGA-32-2491-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264613.6:c.2414T>A	p.Leu805Gln	p.L805Q	ENST00000264613	NM_000096.3	805	cTg/cAg	0			1			T	L/Q	uc003ewy.3	protein_coding	YES	CCDS3141.1			2414/3198									ovary(1)	1	c.(2413-2415)CTG>CAG			Gene3D:2.60.40.420,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF294,Superfamily_domains:SSF49503	ceruloplasmin precursor	Drotrecogin alfa(DB00055)			ENSP00000264613		13/19									COSM3408340	13/19	.		ENST00000264613	Transcript	1		cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	ENSG00000047457	g.chr3:148901264A>T	2295			MODERATE		3.035	medium	getma.org/?cm=msa&ty=f&p=CERU_HUMAN&rb=791&re=903&var=L805Q	getma.org/pdb.php?prot=CERU_HUMAN&from=791&to=903&var=L805Q	getma.org/?cm=var&var=hg19,3,148901264,A,T&fts=all	L805Q	--	--	1																																		CP_uc011bnr.1_RNA|CP_uc003ewx.3_Missense_Mutation_p.L586Q|CP_uc003ewz.2_Missense_Mutation_p.L805Q	1	1		probably_damaging(1)	p.L805Q	NM_000096	NP_000087		deleterious(0)	1	CERU_HUMAN	CP	HGNC	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)				13	2667	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	UPI000045718B	805			Plastocyanin-like 5.|F5/8 type A 3.		SNV	CP,missense_variant,p.Leu805Gln,ENST00000264613,NM_000096.3;CP,missense_variant,p.Leu588Gln,ENST00000494544,;CP,upstream_gene_variant,,ENST00000479771,;CP,downstream_gene_variant,,ENST00000462336,;CP,missense_variant,p.Leu734Gln,ENST00000481169,;CP,non_coding_transcript_exon_variant,,ENST00000490639,;CP,upstream_gene_variant,,ENST00000460674,;CP,downstream_gene_variant,,ENST00000489736,;CP,downstream_gene_variant,,ENST00000471356,;CP,downstream_gene_variant,,ENST00000497797,;CP,upstream_gene_variant,,ENST00000463556,;CP,downstream_gene_variant,,ENST00000497902,;	uc003ewy.3	c.2414T>A	2677/4676	1	1			c.2414T>A						3	SNP	c.(2413-2415)CTG>CAG	16	16			ovary(1)	1	Broad	ceruloplasmin precursor		Drotrecogin alfa(DB00055)	148901264		0.398	ENSG00000047457	3722	g.chr3:148901264A>T	cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity							119.816758	KEEP	25	28	-1	67	81	25	28	-1	129.291777	67	81	0.254335	1	0	0	0	0	1	0	0	0	--	--		0	T			CP_uc011bnr.1_RNA|CP_uc003ewx.3_Missense_Mutation_p.L586Q|CP_uc003ewz.2_Missense_Mutation_p.L805Q	235	GBM-32-2491-TP	p.L805Q	A	TAGAATTCCCAGATGTTCTTC	NM_000096	NP_000087	148901264	P00450	CERU_HUMAN	0	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		13	2667	-	T	T		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	Missense_Mutation	805			Plastocyanin-like 5.|F5/8 type A 3.			
CPA2	1358	broad.mit.edu	GRCh37	7	129909521	129909521	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-02-2486-01	TCGA-02-2486-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222481.4:c.166A>G	p.Lys56Glu	p.K56E	ENST00000222481	NM_001869.2	56	Aaa/Gaa	0			1			G	K/E	uc003vpq.2	protein_coding	YES	CCDS5817.2			166/1260									ovary(1)	1	c.(166-168)AAA>GAA			hmmpanther:PTHR11705:SF50,hmmpanther:PTHR11705,Gene3D:3.30.70.340,Pfam_domain:PF02244,Superfamily_domains:SSF54897	carboxypeptidase A2 (pancreatic) precursor				ENSP00000222481		11-Mar									COSM3411585	11-Mar	.		ENST00000222481	Transcript			proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	ENSG00000158516	g.chr7:129909521A>G	2297			MODERATE		1.975	medium	getma.org/?cm=msa&ty=f&p=CBPA2_HUMAN&rb=28&re=103&var=K56E	getma.org/pdb.php?prot=CBPA2_HUMAN&from=28&to=103&var=K56E	getma.org/?cm=var&var=hg19,7,129909521,A,G&fts=all	K56E	--	--	1																																		CPA2_uc011kpc.1_Missense_Mutation_p.K56E	1	1		benign(0.28)	p.K56E	NM_001869	NP_001860		tolerated(0.07)	1	CBPA2_HUMAN	CPA2	HGNC	P48052	CBPA2_HUMAN					3	185	+	Melanoma(18;0.0435)		UPI00005A7711	56					SNV	CPA2,missense_variant,p.Lys56Glu,ENST00000222481,NM_001869.2;CPA2,missense_variant,p.Lys54Glu,ENST00000416698,;CPA2,non_coding_transcript_exon_variant,,ENST00000487259,;CPA2,non_coding_transcript_exon_variant,,ENST00000480781,;	uc003vpq.2	c.166A>G	221/1366	3	3			c.166A>G						7	SNP	c.(166-168)AAA>GAA	6	6			ovary(1)	1	Broad	carboxypeptidase A2 (pancreatic) precursor			129909521		0.493	ENSG00000158516	3725	g.chr7:129909521A>G	proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding							116.56073	KEEP	20	29	-1	79	84	20	29	-1	129.588573	79	84	0.224599	1	0	0	0	0	1	0	0	0	--	--		0	G			CPA2_uc011kpc.1_Missense_Mutation_p.K56E	8	GBM-02-2486-TP	p.K56E	A	TGATTTTTGGAAATCACCCAC	NM_001869	NP_001860	129909521	P48052	CBPA2_HUMAN	0			3	185	+	G	G	Melanoma(18;0.0435)		Missense_Mutation	56						
CPA6	57094	broad.mit.edu	GRCh37	8	68334862	68334862	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0174-01	TCGA-06-0174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297770.4:c.1191C>T	p.Phe397=	p.F397=	ENST00000297770	NM_020361.4	397	ttC/ttT	0			1			A	F	uc003xxq.3	protein_coding	YES	CCDS6200.1			1191/1314									ovary(2)	2	c.(1189-1191)TTC>TTT			hmmpanther:PTHR11705:SF18,hmmpanther:PTHR11705,Gene3D:3.40.630.10,Pfam_domain:PF00246,SMART_domains:SM00631,Superfamily_domains:SSF53187	carboxypeptidase A6 isoform 1 precursor				ENSP00000297770		11-Nov	4.12E-05					7.49E-05			rs760234221,COSM1101239	11-Nov	.		ENST00000297770	Transcript	1		proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	ENSG00000165078	g.chr8:68334862G>A	17245			LOW								--	--	1																																		CPA6_uc003xxr.3_Silent_p.F153F	0,1	1			p.F397F	NM_020361	NP_065094			0,1	CBPA6_HUMAN	CPA6	HGNC	Q8N4T0	CBPA6_HUMAN	Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)				11	1447	-			UPI000003984E	397					SNV	CPA6,synonymous_variant,p.=,ENST00000297770,NM_020361.4;CPA6,synonymous_variant,p.=,ENST00000297769,;CPA6,3_prime_UTR_variant,,ENST00000479862,;	uc003xxq.3	c.1191C>T	1407/1861	2	2			c.1191C>T						8	SNP	c.(1189-1191)TTC>TTT	17	17			ovary(2)	2	Broad	carboxypeptidase A6 isoform 1 precursor			68334862		0.383	ENSG00000165078	3729	g.chr8:68334862G>A	proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding							225.37849	KEEP	35	45	-1	46	53	35	45	-1	225.861033	46	53	0.441718	1	0	0	0	0	0	0	1	0	--	--		0	A			CPA6_uc003xxr.3_Silent_p.F153F	37	GBM-06-0174-TP	p.F397F	G	CACGTAGTTCGAAAGCAAATG	NM_020361	NP_065094	68334862	Q8N4T0	CBPA6_HUMAN	0	Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)		11	1447	-	A	A			Silent	397						
CPA6	57094	broad.mit.edu	GRCh37	8	68419124	68419124	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G			TCGA-06-0216-01	TCGA-06-0216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297770.4:c.535-1G>C		p.X179_splice	ENST00000297770	NM_020361.4	179		0			1			G		uc003xxq.3	protein_coding	YES	CCDS6200.1			535/1314									ovary(2)	2	c.e6-1				carboxypeptidase A6 isoform 1 precursor				ENSP00000297770											COSM2150931,COSM3413093		.		ENST00000297770	Transcript	1		proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	ENSG00000165078	g.chr8:68419124C>G	17245			HIGH	10-May							--	--	1																																		CPA6_uc003xxr.3_Splice_Site_p.L31_splice|CPA6_uc003xxs.2_Splice_Site_p.L179_splice	1,1	1			p.L179_splice	NM_020361	NP_065094			1,1	CBPA6_HUMAN	CPA6	HGNC	Q8N4T0	CBPA6_HUMAN	Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)				6	791	-			UPI000003984E						SNV	CPA6,splice_acceptor_variant,,ENST00000297770,NM_020361.4;CPA6,splice_acceptor_variant,,ENST00000297769,;CPA6,splice_acceptor_variant,,ENST00000518549,;CPA6,splice_acceptor_variant,,ENST00000479862,;	uc003xxq.3	c.535_splice	-/1861	5	3			c.535_splice						8	SNP	c.e6-1	4	4			ovary(2)	2	Broad	carboxypeptidase A6 isoform 1 precursor			68419124		0.408	ENSG00000165078	3729	g.chr8:68419124C>G	proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding							44.2446	KEEP	7	7	-1	11	10	7	7	-1	44.47561	11	10	0.411765	1	0	0	0	0	0	0	0	1	--	--		0	G			CPA6_uc003xxr.3_Splice_Site_p.L31_splice|CPA6_uc003xxs.2_Splice_Site_p.L179_splice	51	GBM-06-0216-TP	p.L179_splice	C	GTCTGCCCAGCTGAAAACAAG	NM_020361	NP_065094	68419124	Q8N4T0	CBPA6_HUMAN	0	Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)		6	791	-	G	G			Splice_Site							
CPA6	57094		GRCh37	8	68396059	68396059	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000297770.4:c.782C>T	p.Ser261Leu	p.S261L	ENST00000297770	NM_020361.4	261	tCa/tTa	0																																																																																																																																																																																																																																												
CPAMD8	27151	broad.mit.edu	GRCh37	19	17007075	17007075	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000443236.1:c.5479G>A	p.Gly1827Arg	p.G1827R	ENST00000443236	NM_015692.2	1827	Ggg/Agg	0			1			T	G/R	uc002nfb.2	protein_coding	YES	CCDS42519.1			5479/5799									ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13	c.(5479-5481)GGG>AGG				C3 and PZP-like, alpha-2-macroglobulin domain				ENSP00000402505		41/42									COSM2149705	41/42	.		ENST00000443236	Transcript				extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	ENSG00000160111	g.chr19:17007075C>T	23228			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CPMD8_HUMAN&rb=1757&re=1885&var=G1780R	NA	getma.org/?cm=var&var=hg19,19,17007075,C,T&fts=all	G1780R	--	--	1																																		CPAMD8_uc010xpj.1_5'UTR|CPAMD8_uc002nfd.1_Missense_Mutation_p.G292R	1	1		benign(0.011)	p.G1827R	NM_015692	NP_056507		deleterious_low_confidence(0.04)	1	CPMD8_HUMAN	CPAMD8	HGNC	Q8IZJ3	CPMD8_HUMAN					41	5511	-			UPI0000E8AC99	1780					SNV	CPAMD8,missense_variant,p.Gly1827Arg,ENST00000443236,NM_015692.2;CPAMD8,missense_variant,p.Gly303Arg,ENST00000594249,;CPAMD8,intron_variant,,ENST00000599287,;F2RL3,downstream_gene_variant,,ENST00000248076,NM_003950.2;CPAMD8,upstream_gene_variant,,ENST00000598792,;CPAMD8,non_coding_transcript_exon_variant,,ENST00000597335,;CPAMD8,non_coding_transcript_exon_variant,,ENST00000602132,;CPAMD8,intron_variant,,ENST00000598547,;CPAMD8,downstream_gene_variant,,ENST00000595323,;CPAMD8,non_coding_transcript_exon_variant,,ENST00000600235,;CPAMD8,non_coding_transcript_exon_variant,,ENST00000596224,;CPAMD8,non_coding_transcript_exon_variant,,ENST00000601782,;CPAMD8,non_coding_transcript_exon_variant,,ENST00000596572,;CPAMD8,non_coding_transcript_exon_variant,,ENST00000598104,;CPAMD8,non_coding_transcript_exon_variant,,ENST00000597709,;CPAMD8,non_coding_transcript_exon_variant,,ENST00000593739,;	uc002nfb.2	c.5479G>A	5511/5992	2	2			c.5479G>A						19	SNP	c.(5479-5481)GGG>AGG	43	43			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13	Broad	C3 and PZP-like, alpha-2-macroglobulin domain			17007075		0.677	ENSG00000160111	3730	g.chr19:17007075C>T		extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			1067			1067	62.40717	KEEP	14	10	-1	30	28	14	10	-1	65.10052	30	28	0.303797	1	0	0	0	0	1	0	0	0	--	--		0	T			CPAMD8_uc010xpj.1_5'UTR|CPAMD8_uc002nfd.1_Missense_Mutation_p.G292R	23	GBM-06-0145-TP	p.G1827R	C	TGTAAAGGCCCCGGGGCCACA	NM_015692	NP_056507	17007075	Q8IZJ3	CPMD8_HUMAN	0			41	5511	-	T	T			Missense_Mutation	1780						
CPAMD8	27151	broad.mit.edu	GRCh37	19	17086872	17086872	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0645-01	TCGA-06-0645-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000443236.1:c.1989C>T	p.Val663=	p.V663=	ENST00000443236	NM_015692.2	663	gtC/gtT	0			1			A	V	uc002nfb.2	protein_coding	YES	CCDS42519.1			1989/5799									ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13	c.(1987-1989)GTC>GTT			Pfam_domain:PF07703,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF76	C3 and PZP-like, alpha-2-macroglobulin domain				ENSP00000402505		16/42	4.95E-05			0.000116		3.03E-05		0.000191	rs747096894,COSM2151297	16/42	.		ENST00000443236	Transcript				extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	ENSG00000160111	g.chr19:17086872G>A	23228			LOW								--	--	1																																			0,1	1			p.V663V	NM_015692	NP_056507			0,1	CPMD8_HUMAN	CPAMD8	HGNC	Q8IZJ3	CPMD8_HUMAN					16	2021	-			UPI0000E8AC99	616					SNV	CPAMD8,synonymous_variant,p.=,ENST00000443236,NM_015692.2;CPAMD8,intron_variant,,ENST00000388925,;CPAMD8,non_coding_transcript_exon_variant,,ENST00000593420,;CPAMD8,intron_variant,,ENST00000291440,;CPAMD8,upstream_gene_variant,,ENST00000602159,;	uc002nfb.2	c.1989C>T	2021/5992	2	2			c.1989C>T						19	SNP	c.(1987-1989)GTC>GTT	29	29			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13	Broad	C3 and PZP-like, alpha-2-macroglobulin domain			17086872		0.597	ENSG00000160111	3730	g.chr19:17086872G>A		extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity		p.V663V(SNU869-Tumor)	1067		p.V663V(SNU869-Tumor)	1067	39.538431	KEEP	9	12	-1	30	42	9	12	-1	45.061749	30	42	0.220779	1	0	0	0	0	0	0	1	0	--	--		0	A				59	GBM-06-0645-TP	p.V663V	G	CAACTGCGGCGACGCACACAC	NM_015692	NP_056507	17086872	Q8IZJ3	CPMD8_HUMAN	0			16	2021	-	A	A			Silent	616						
CPAMD8	0	broad.mit.edu	GRCh37	19	17086956	17086956	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-12-3649-01	TCGA-12-3649-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000443236.1:c.1905A>G	p.Ser635=	p.S635=	ENST00000443236	NM_015692.2	635	tcA/tcG	0			1			C	S	uc002nfb.2	protein_coding	YES	CCDS42519.1			1905/5799									ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13	c.(1903-1905)TCA>TCG			Pfam_domain:PF07703,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF76	C3 and PZP-like, alpha-2-macroglobulin domain				ENSP00000402505		16/42									COSM3403900	16/42	.		ENST00000443236	Transcript				extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	ENSG00000160111	g.chr19:17086956T>C	23228			LOW								--	--	1																																			1	1			p.S635S	NM_015692	NP_056507			1	CPMD8_HUMAN	CPAMD8	HGNC	Q8IZJ3	CPMD8_HUMAN					16	1937	-			UPI0000E8AC99	588					SNV	CPAMD8,synonymous_variant,p.=,ENST00000443236,NM_015692.2;CPAMD8,intron_variant,,ENST00000388925,;CPAMD8,upstream_gene_variant,,ENST00000593420,;CPAMD8,intron_variant,,ENST00000291440,;	uc002nfb.2	c.1905A>G	1937/5992	4	4			c.1905A>G						19	SNP	c.(1903-1905)TCA>TCG	38	38			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13	Broad	C3 and PZP-like, alpha-2-macroglobulin domain			17086956		0.393	ENSG00000160111	3730	g.chr19:17086956T>C		extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			1067			1067	24.756753	KEEP	6	6	-1	17	43	6	6	-1	31.251202	17	43	0.179104	1	0	0	0	0	0	0	1	0	--	--		0	C				125	GBM-12-3649-TP	p.S635S	T	AATACGTCACTGAAACCTTGG	NM_015692	NP_056507	17086956	Q8IZJ3	CPMD8_HUMAN	0			16	1937	-	C	C			Silent	588						
CPAMD8	0	broad.mit.edu	GRCh37	19	17017818	17017818	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01	TCGA-19-5954-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000443236.1:c.4112G>A	p.Arg1371His	p.R1371H	ENST00000443236	NM_015692.2	1371	cGc/cAc	0			1			T	R/H	uc002nfb.2	protein_coding	YES	CCDS42519.1			4112/5799									ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13	c.(4111-4113)CGC>CAC			Gene3D:1.50.10.20,Pfam_domain:PF07678,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF76,Superfamily_domains:SSF48239	C3 and PZP-like, alpha-2-macroglobulin domain				ENSP00000402505		30/42	5.82E-05		0.00026	0.000181		9.11E-05			rs746971695,COSM2156755	30/42	.		ENST00000443236	Transcript				extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	ENSG00000160111	g.chr19:17017818C>T	23228			MODERATE		1.085	low	getma.org/?cm=msa&ty=f&p=CPMD8_HUMAN&rb=1182&re=1431&var=R1324H	getma.org/pdb.php?prot=CPMD8_HUMAN&from=1182&to=1431&var=R1324H	getma.org/?cm=var&var=hg19,19,17017818,C,T&fts=all	R1324H	--	--	1																																			0,1	1		benign(0.008)	p.R1371H	NM_015692	NP_056507		tolerated(0.27)	0,1	CPMD8_HUMAN	CPAMD8	HGNC	Q8IZJ3	CPMD8_HUMAN					30	4144	-			UPI0000E8AC99	1324					SNV	CPAMD8,missense_variant,p.Arg1371His,ENST00000443236,NM_015692.2;CPAMD8,upstream_gene_variant,,ENST00000594249,;RN7SL823P,downstream_gene_variant,,ENST00000584886,;RN7SL835P,upstream_gene_variant,,ENST00000579920,;	uc002nfb.2	c.4112G>A	4144/5992	2	2			c.4112G>A						19	SNP	c.(4111-4113)CGC>CAC	47	47			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13	Broad	C3 and PZP-like, alpha-2-macroglobulin domain			17017818		0.667	ENSG00000160111	3730	g.chr19:17017818C>T		extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			1067			1067	28.346523	KEEP	3	8	-1	6	9	3	8	-1	28.564573	6	9	0.4	1	0	0	0	0	1	0	0	0	--	--		0	T				174	GBM-19-5954-TP	p.R1371H	C	TGCCGGGCTGCGGAGCAGGGT	NM_015692	NP_056507	17017818	Q8IZJ3	CPMD8_HUMAN	0			30	4144	-	T	T			Missense_Mutation	1324						
CPAMD8	0	broad.mit.edu	GRCh37	19	17017835	17017835	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-1439-01	TCGA-26-1439-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000443236.1:c.4095C>T	p.Tyr1365=	p.Y1365=	ENST00000443236	NM_015692.2	1365	taC/taT	0			1			A	Y	uc002nfb.2	protein_coding	YES	CCDS42519.1			4095/5799									ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13	c.(4093-4095)TAC>TAT			Gene3D:1.50.10.20,Pfam_domain:PF07678,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF76,Superfamily_domains:SSF48239	C3 and PZP-like, alpha-2-macroglobulin domain				ENSP00000402505		30/42	4.98E-05							0.000512	rs774376062,COSM2156890	30/42	common_variant		ENST00000443236	Transcript				extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	ENSG00000160111	g.chr19:17017835G>A	23228			LOW								--	--	1																																			0,1	1			p.Y1365Y	NM_015692	NP_056507			0,1	CPMD8_HUMAN	CPAMD8	HGNC	Q8IZJ3	CPMD8_HUMAN					30	4127	-			UPI0000E8AC99	1318					SNV	CPAMD8,synonymous_variant,p.=,ENST00000443236,NM_015692.2;CPAMD8,upstream_gene_variant,,ENST00000594249,;RN7SL823P,downstream_gene_variant,,ENST00000584886,;RN7SL835P,upstream_gene_variant,,ENST00000579920,;	uc002nfb.2	c.4095C>T	4127/5992	2	2			c.4095C>T						19	SNP	c.(4093-4095)TAC>TAT	26	26			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13	Broad	C3 and PZP-like, alpha-2-macroglobulin domain			17017835		0.662	ENSG00000160111	3730	g.chr19:17017835G>A		extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			1067			1067	49.568747	KEEP	7	12	-1	16	12	7	12	-1	49.829242	16	12	0.414634	1	0	0	0	0	0	0	1	0	--	--		0	A				179	GBM-26-1439-TP	p.Y1365Y	G	GGGTCAGCGCGTAGGTAGTCA	NM_015692	NP_056507	17017835	Q8IZJ3	CPMD8_HUMAN	0			30	4127	-	A	A			Silent	1318						
CPAMD8	0	broad.mit.edu	GRCh37	19	17013524	17013524	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5216-01	TCGA-28-5216-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000443236.1:c.4761C>T	p.Asp1587=	p.D1587=	ENST00000443236	NM_015692.2	1587	gaC/gaT	0			1			A	D	uc002nfb.2	protein_coding	YES	CCDS42519.1			4761/5799									ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13	c.(4759-4761)GAC>GAT			hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF76,Low_complexity_(Seg):seg	C3 and PZP-like, alpha-2-macroglobulin domain				ENSP00000402505		35/42	3.31E-05		8.77E-05			1.56E-05		0.000132	rs748210595,COSM3403898	35/42	.		ENST00000443236	Transcript				extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	ENSG00000160111	g.chr19:17013524G>A	23228			LOW								--	--	1																																		CPAMD8_uc002nfd.1_Silent_p.D52D	0,1	1			p.D1587D	NM_015692	NP_056507			0,1	CPMD8_HUMAN	CPAMD8	HGNC	Q8IZJ3	CPMD8_HUMAN					35	4793	-			UPI0000E8AC99	1540			Poly-Asp.		SNV	CPAMD8,synonymous_variant,p.=,ENST00000443236,NM_015692.2;CPAMD8,synonymous_variant,p.=,ENST00000594249,;CPAMD8,upstream_gene_variant,,ENST00000599287,;RN7SL835P,upstream_gene_variant,,ENST00000579920,;CPAMD8,upstream_gene_variant,,ENST00000601782,;CPAMD8,upstream_gene_variant,,ENST00000597709,;	uc002nfb.2	c.4761C>T	4793/5992	2	2			c.4761C>T						19	SNP	c.(4759-4761)GAC>GAT	42	42			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13	Broad	C3 and PZP-like, alpha-2-macroglobulin domain			17013524		0.662	ENSG00000160111	3730	g.chr19:17013524G>A		extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			1067			1067	73.986059	KEEP	15	17	-1	28	33	15	17	-1	75.242551	28	33	0.363636	1	0	0	0	0	0	0	1	0	--	--		0	A			CPAMD8_uc002nfd.1_Silent_p.D52D	223	GBM-28-5216-TP	p.D1587D	G	GGTCATCATCGTCAGCTGGGG	NM_015692	NP_056507	17013524	Q8IZJ3	CPMD8_HUMAN	0			35	4793	-	A	A			Silent	1540			Poly-Asp.			
CPAMD8	27151		GRCh37	19	17122460	17122460	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000443236.1:c.516C>A	p.Gly172=	p.G172=	ENST00000443236	NM_015692.2	172	ggC/ggA	0																																																																																																																																																																																																																																												
CPAMD8	27151		GRCh37	19	17014389	17014389	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000443236.1:c.4593C>T	p.Asp1531=	p.D1531=	ENST00000443236	NM_015692.2	1531	gaC/gaT	0																																																																																																																																																																																																																																												
CPB1	1360	broad.mit.edu	GRCh37	3	148545842	148545842	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000491148.1:c.125G>A	p.Arg42His	p.R42H	ENST00000491148		42	cGc/cAc	0	A:0.0002	A:0	1	A:0.0014		A	R/H	uc003ewl.2	protein_coding		CCDS33874.1			125/1254									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(124-126)CGC>CAC			Gene3D:3.30.70.340,Pfam_domain:PF02244,hmmpanther:PTHR11705,hmmpanther:PTHR11705:SF20,Superfamily_domains:SSF54897	pancreatic carboxypeptidase B1 preproprotein		A:0.005	A:0	ENSP00000282957	A:0	11-Feb	0.000708	9.62E-05	8.67E-05	0.00904			0.0022	0.000182	rs193238667,COSM1039658	11-Feb	common_variant		ENST00000282957	Transcript		A:0.0012	proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	ENSG00000153002	g.chr3:148545842G>A	2299			MODERATE		-0.14	neutral	getma.org/?cm=msa&ty=f&p=CBPB1_HUMAN&rb=28&re=105&var=R42H	getma.org/pdb.php?prot=CBPB1_HUMAN&from=28&to=105&var=R42H	getma.org/?cm=var&var=hg19,3,148545842,G,A&fts=all	R42H	--	--	1																																			0,1			benign(0.003)	p.R42H	NM_001871	NP_001862	A:0	tolerated(0.22)	0,1	CBPB1_HUMAN	CPB1	HGNC	P15086	CBPB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		Q68DJ8_HUMAN,C9JXS3_HUMAN,C9J5C4_HUMAN		2	148	+			UPI00001271CD	42					SNV	CPB1,missense_variant,p.Arg42His,ENST00000491148,;CPB1,missense_variant,p.Arg42His,ENST00000282957,NM_001871.2;CPB1,missense_variant,p.Arg42His,ENST00000468341,;CPB1,missense_variant,p.Arg42His,ENST00000494888,;CPB1,missense_variant,p.Arg42His,ENST00000462345,;CPB1,non_coding_transcript_exon_variant,,ENST00000465718,;HMGB1P30,upstream_gene_variant,,ENST00000492455,;	uc003ewl.2	c.125G>A	148/1458	1	1			c.125G>A						3	SNP	c.(124-126)CGC>CAC	55	55			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	pancreatic carboxypeptidase B1 preproprotein			148545842		0.363	ENSG00000153002	3731	g.chr3:148545842G>A	proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding							120.513504	KEEP	17	25	-1	19	37	17	25	-1	120.716337	19	37	0.448276	1	0	0	0	0	1	0	0	0	--	--		0	A				102	GBM-06-5858-TP	p.R42H	G	AACATAATCCGCGAGTTGGCC	NM_001871	NP_001862	148545842	P15086	CBPB1_HUMAN	0	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		2	148	+	A	A			Missense_Mutation	42						
CPB1	0	broad.mit.edu	GRCh37	3	148562321	148562321	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01	TCGA-14-3476-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282957.4:c.633C>A	p.Asp211Glu	p.D211E	ENST00000282957	NM_001871.2	211	gaC/gaA	0			1			A	D/E	uc003ewl.2	protein_coding		CCDS33874.1			633/1254									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(631-633)GAC>GAA			Gene3D:3.40.630.10,Pfam_domain:PF00246,hmmpanther:PTHR11705,hmmpanther:PTHR11705:SF20,SMART_domains:SM00631,Superfamily_domains:SSF53187	pancreatic carboxypeptidase B1 preproprotein				ENSP00000282957		11-Jul	2.47E-05			0.000347					rs764338741,COSM3002377	11-Jul	.		ENST00000282957	Transcript			proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	ENSG00000153002	g.chr3:148562321C>A	2299			MODERATE		1.585	low	getma.org/?cm=msa&ty=f&p=CBPB1_HUMAN&rb=125&re=404&var=D211E	getma.org/pdb.php?prot=CBPB1_HUMAN&from=125&to=404&var=D211E	getma.org/?cm=var&var=hg19,3,148562321,C,A&fts=all	D211E	--	--	1																																			0,1			probably_damaging(0.964)	p.D211E	NM_001871	NP_001862		deleterious(0.02)	0,1	CBPB1_HUMAN	CPB1	HGNC	P15086	CBPB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		Q68DJ8_HUMAN,C9JXS3_HUMAN,C9J5C4_HUMAN		7	656	+			UPI00001271CD	211					SNV	CPB1,missense_variant,p.Asp211Glu,ENST00000491148,;CPB1,missense_variant,p.Asp211Glu,ENST00000282957,NM_001871.2;CPB1,missense_variant,p.Asp177Glu,ENST00000468341,;CPB1,downstream_gene_variant,,ENST00000462345,;CPB1,downstream_gene_variant,,ENST00000484877,;CPB1,downstream_gene_variant,,ENST00000465718,;	uc003ewl.2	c.633C>A	656/1458	2	2			c.633C>A						3	SNP	c.(631-633)GAC>GAA	18	18			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	pancreatic carboxypeptidase B1 preproprotein			148562321		0.413	ENSG00000153002	3731	g.chr3:148562321C>A	proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding							-0.777248	KEEP	5	4	0.444444444	40	64	5	4	0.444444444	16.433929	40	64	0.082474	1	0	0	0	0	1	0	0	0	--	--		0	A				151	GBM-14-3476-TP	p.D211E	C	ACAAGTTAGACTTTTATGTCC	NM_001871	NP_001862	148562321	P15086	CBPB1_HUMAN	0	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		7	656	+	A	A			Missense_Mutation	211						
CPD	0	broad.mit.edu	GRCh37	17	28770823	28770823	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-27-2524-01	TCGA-27-2524-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000225719.4:c.2377C>A	p.His793Asn	p.H793N	ENST00000225719	NM_001304.4	793	Cat/Aat	0			1			A	H/N	uc002hfb.1	protein_coding	YES	CCDS11257.1			2377/4143									liver(1)|skin(1)	2	c.(2377-2379)CAT>AAT			Gene3D:3.40.630.10,hmmpanther:PTHR11532,hmmpanther:PTHR11532:SF40,SMART_domains:SM00631,Superfamily_domains:SSF53187	carboxypeptidase D precursor				ENSP00000225719		21-Nov									COSM3402716	21-Nov	.		ENST00000225719	Transcript			proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	ENSG00000108582	g.chr17:28770823C>A	2301			MODERATE		2.91	medium	getma.org/?cm=msa&ty=f&p=CBPD_HUMAN&rb=755&re=824&var=H793N	getma.org/pdb.php?prot=CBPD_HUMAN&from=785&to=794&var=H793N	getma.org/?cm=var&var=hg19,17,28770823,C,A&fts=all	H793N	--	--	1																																		CPD_uc010wbo.1_Missense_Mutation_p.H546N|CPD_uc010wbp.1_RNA	1	1		possibly_damaging(0.677)	p.H793N	NM_001304	NP_001295		deleterious(0.01)	1	CBPD_HUMAN	CPD	HGNC	O75976	CBPD_HUMAN					11	2392	+			UPI000000DAF7	793			Extracellular (Potential).|Carboxypeptidase-like 2.		SNV	CPD,missense_variant,p.His793Asn,ENST00000225719,NM_001304.4;CPD,missense_variant,p.His546Asn,ENST00000543464,NM_001199775.1;CPD,missense_variant,p.His2Asn,ENST00000584221,;CPD,upstream_gene_variant,,ENST00000588977,;CPD,non_coding_transcript_exon_variant,,ENST00000581826,;	uc002hfb.1	c.2377C>A	2453/9394	2	2			c.2377C>A						17	SNP	c.(2377-2379)CAT>AAT	41	41			liver(1)|skin(1)	2	Broad	carboxypeptidase D precursor			28770823		0.378	ENSG00000108582	3733	g.chr17:28770823C>A	proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding							256.273245	KEEP	51	47	0.479591837	85	86	51	47	0.479591837	259.966944	85	86	0.368852	1	0	0	0	0	1	0	0	0	--	--		0	A			CPD_uc010wbo.1_Missense_Mutation_p.H546N|CPD_uc010wbp.1_RNA	202	GBM-27-2524-TP	p.H793N	C	AATCCAGGTTCATCAGGGCGT	NM_001304	NP_001295	28770823	O75976	CBPD_HUMAN	0			11	2392	+	A	A			Missense_Mutation	793			Extracellular (Potential).|Carboxypeptidase-like 2.			
CPD	0	broad.mit.edu	GRCh37	17	28772878	28772881	+	frameshift_variant	Frame_Shift_Del	DEL	TTAA	TTAA	-			TCGA-76-4928-01	TCGA-76-4928-01	TTAA	TTAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000225719.4:c.2717_2720delTTAA	p.Ile906LysfsTer37	p.I906Kfs*37	ENST00000225719	NM_001304.4	905	TTAAtt/tt	0			1			-	LI/X	uc002hfb.1	protein_coding	YES	CCDS11257.1			2713-2716/4143									liver(1)|skin(1)	2	c.(2713-2718)TTAATTfs			hmmpanther:PTHR11532,hmmpanther:PTHR11532:SF40	carboxypeptidase D precursor				ENSP00000225719		21-Dec										21-Dec	.		ENST00000225719	Transcript			proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	ENSG00000108582	g.chr17:28772878_28772881delTTAA	2301	4		HIGH								--	--	1																																		CPD_uc010wbo.1_Frame_Shift_Del_p.L658fs|CPD_uc010wbp.1_RNA		1			p.L905fs	NM_001304	NP_001295				CBPD_HUMAN	CPD	HGNC	O75976	CBPD_HUMAN					12	2728_2731	+			UPI000000DAF7	905_906			Extracellular (Potential).|Carboxypeptidase-like 3.		deletion	CPD,frameshift_variant,p.Ile906LysfsTer37,ENST00000225719,NM_001304.4;CPD,frameshift_variant,p.Ile659LysfsTer37,ENST00000543464,NM_001199775.1;CPD,frameshift_variant,p.Ile115LysfsTer37,ENST00000584221,;CPD,non_coding_transcript_exon_variant,,ENST00000588977,;CPD,upstream_gene_variant,,ENST00000584051,;CPD,downstream_gene_variant,,ENST00000581826,;CPD,upstream_gene_variant,,ENST00000584050,;	uc002hfb.1	c.2713_2716delTTAA	2789-2792/9394	5	5			c.2713_2716delTTAA						17	DEL	c.(2713-2718)TTAATTfs	61	61			liver(1)|skin(1)	2	Broad	carboxypeptidase D precursor			28772881		0.417	ENSG00000108582	3733	g.chr17:28772878_28772881delTTAA	proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding																				0.22	1	1	0	1	0	0	0	0	0	--	--		0	-			CPD_uc010wbo.1_Frame_Shift_Del_p.L658fs|CPD_uc010wbp.1_RNA	268	GBM-76-4928-TP	p.L905fs	TTAA	GTTTGAAACTTTAATTAAAGACCT	NM_001304	NP_001295	28772878	O75976	CBPD_HUMAN	0			12	2728_2731	+	-	-			Frame_Shift_Del	905_906			Extracellular (Potential).|Carboxypeptidase-like 3.			
CPEB2	0	broad.mit.edu	GRCh37	4	15005738	15005739	+	inframe_insertion	In_Frame_Ins	INS	-	-	GCG			TCGA-15-0742-01	TCGA-15-0742-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000507071.1:c.148_150dupGGC	p.Gly50dup	p.G50dup	ENST00000507071		44	agc/aGCGgc	0		GCG:0.0204	1	GCG:0.0159		GCG	S/SG	uc003gni.1	protein_coding					130-131/1770									skin(1)	1	c.(130-132)AGC>AGCGGC			Low_complexity_(Seg):seg,hmmpanther:PTHR12566	cytoplasmic polyadenylation element binding		GCG:0.0278		ENSP00000424084	GCG:0.0348	11-Jan									rs534266090	11-Jan	.		ENST00000507071	Transcript		GCG:0.0493	regulation of translation	cytoplasm	nucleotide binding|RNA binding	ENSG00000137449	g.chr4:15005738_15005739insGCG	21745	20		MODERATE								--	--	1																																		uc003gng.3_5'Flank|uc003gnh.1_5'Flank|CPEB2_uc003gnj.1_In_Frame_Ins_p.50_51insG|CPEB2_uc003gnk.1_In_Frame_Ins_p.50_51insG|CPEB2_uc003gnl.1_In_Frame_Ins_p.50_51insG|CPEB2_uc003gnm.1_In_Frame_Ins_p.50_51insG|CPEB2_uc003gnn.1_In_Frame_Ins_p.50_51insG					p.50_51insG	NM_182485	NP_872291	GCG:0.1493			CPEB2_HUMAN	CPEB2	HGNC	Q7Z5Q1	CPEB2_HUMAN			H0Y9D9_HUMAN		1	217_218	+			UPI00001AE452	50_51			Pro-rich.		insertion	CPEB2,inframe_insertion,p.Gly487dup,ENST00000538197,NM_001177382.1;CPEB2,inframe_insertion,p.Gly487dup,ENST00000541112,NM_182485.2;CPEB2,inframe_insertion,p.Gly487dup,ENST00000442003,NM_001177381.1,NM_001177383.1;CPEB2,inframe_insertion,p.Gly50dup,ENST00000259997,;CPEB2,inframe_insertion,p.Gly50dup,ENST00000382395,;CPEB2,inframe_insertion,p.Gly50dup,ENST00000382401,NM_001177384.1,NM_182646.2;CPEB2,inframe_insertion,p.Gly50dup,ENST00000507071,;CPEB2,inframe_insertion,p.Gly50dup,ENST00000345451,;CPEB2-AS1,upstream_gene_variant,,ENST00000500394,;RP11-665G4.1,downstream_gene_variant,,ENST00000502344,;RP11-665G4.1,downstream_gene_variant,,ENST00000513384,;CPEB2,upstream_gene_variant,,ENST00000503926,;	uc003gni.1	c.130_131insGCG	217-218/2103	5	5			c.130_131insGCG						4	INS	c.(130-132)AGC>AGCGGC	61	61			skin(1)	1	Broad	cytoplasmic polyadenylation element binding			15005739		0.545	ENSG00000137449	3736	g.chr4:15005738_15005739insGCG	regulation of translation	cytoplasm	nucleotide binding|RNA binding																				0.31	1	0	0	1	1	0	0	0	0	--	--		0	GCG			uc003gng.3_5'Flank|uc003gnh.1_5'Flank|CPEB2_uc003gnj.1_In_Frame_Ins_p.50_51insG|CPEB2_uc003gnk.1_In_Frame_Ins_p.50_51insG|CPEB2_uc003gnl.1_In_Frame_Ins_p.50_51insG|CPEB2_uc003gnm.1_In_Frame_Ins_p.50_51insG|CPEB2_uc003gnn.1_In_Frame_Ins_p.50_51insG	153	GBM-15-0742-TP	p.50_51insG	-	CGTTCCGACGAgcggcggcggc	NM_182485	NP_872291	15005738	Q7Z5Q1	CPEB2_HUMAN	0			1	217_218	+	GCG	GCG			In_Frame_Ins	50_51			Pro-rich.			
CPEB4	80315	broad.mit.edu	GRCh37	5	173317554	173317554	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0747-01	TCGA-06-0747-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265085.5:c.818del	p.His273LeufsTer49	p.H273Lfs*49	ENST00000265085	NM_030627.2	273	cAt/ct	0			1			-	H/X	uc003mcs.3	protein_coding	YES	CCDS4390.1			818/2190										0	c.(817-819)CATfs			hmmpanther:PTHR12566:SF2,hmmpanther:PTHR12566	cytoplasmic polyadenylation element binding				ENSP00000265085		10-Jan										10-Jan	.		ENST00000265085	Transcript					nucleotide binding|RNA binding	ENSG00000113742	g.chr5:173317554delA	21747			HIGH								--	--	1																																		CPEB4_uc010jju.1_Frame_Shift_Del_p.H273fs|CPEB4_uc010jjv.2_Frame_Shift_Del_p.H273fs|CPEB4_uc011dfg.1_Frame_Shift_Del_p.H273fs|CPEB4_uc003mct.3_5'Flank|CPEB4_uc003mcu.3_5'Flank		1			p.H273fs	NM_030627	NP_085130				CPEB4_HUMAN	CPEB4	HGNC	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)				1	2224	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	UPI000020C179	273					deletion	CPEB4,frameshift_variant,p.His273LeufsTer49,ENST00000265085,NM_030627.2;CPEB4,frameshift_variant,p.His273LeufsTer49,ENST00000334035,;CPEB4,frameshift_variant,p.His273LeufsTer49,ENST00000520867,;CPEB4,frameshift_variant,p.His273LeufsTer49,ENST00000519835,;CPEB4,upstream_gene_variant,,ENST00000522336,;CPEB4,upstream_gene_variant,,ENST00000517880,;CPEB4,upstream_gene_variant,,ENST00000519152,;CPEB4,upstream_gene_variant,,ENST00000518141,;CPEB4,upstream_gene_variant,,ENST00000522344,;	uc003mcs.3	c.818delA	2272/9483	5	5			c.818delA						5	DEL	c.(817-819)CATfs	24	24				0	Broad	cytoplasmic polyadenylation element binding			173317554		0.557	ENSG00000113742	3738	g.chr5:173317554delA			nucleotide binding|RNA binding																				0.16	1	1	0	1	0	0	0	0	0	--	--		0	-			CPEB4_uc010jju.1_Frame_Shift_Del_p.H273fs|CPEB4_uc010jjv.2_Frame_Shift_Del_p.H273fs|CPEB4_uc011dfg.1_Frame_Shift_Del_p.H273fs|CPEB4_uc003mct.3_5'Flank|CPEB4_uc003mcu.3_5'Flank	68	GBM-06-0747-TP	p.H273fs	A	CAGCTGCCTCATTTGGCGAAT	NM_030627	NP_085130	173317554	Q17RY0	CPEB4_HUMAN	0	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	2224	+	-	-	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Frame_Shift_Del	273						
CPED1	79974	broad.mit.edu	GRCh37	7	120655897	120655897	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0209-01	TCGA-06-0209-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310396.5:c.428A>G	p.Glu143Gly	p.E143G	ENST00000310396	NM_024913.4	143	gAa/gGa	0			1			G	E/G	uc003vjq.3	protein_coding	YES	CCDS34739.1			428/3081									ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	c.(427-429)GAA>GGA			hmmpanther:PTHR14776	hypothetical protein LOC79974 isoform 1				ENSP00000309772		23-Mar									COSM3411523,COSM3411524	23-Mar	.		ENST00000310396	Transcript				endoplasmic reticulum		ENSG00000106034	g.chr7:120655897A>G	26159			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=CG058_HUMAN&rb=1&re=200&var=E143G	NA	getma.org/?cm=var&var=hg19,7,120655897,A,G&fts=all	E143G	--	--	1																																		C7orf58_uc003vjr.1_Missense_Mutation_p.E143G|C7orf58_uc003vjs.3_Missense_Mutation_p.E143G	1,1	1		benign(0)	p.E143G	NM_024913	NP_079189		tolerated(0.22)	1,1	CPED1_HUMAN	CPED1	HGNC	A4D0V7	CG058_HUMAN			Q75MM9_HUMAN,E9PCC8_HUMAN,E7ENG7_HUMAN		3	875	+	all_neural(327;0.117)		UPI000013C813	143					SNV	CPED1,missense_variant,p.Glu143Gly,ENST00000310396,NM_024913.4;CPED1,missense_variant,p.Glu143Gly,ENST00000450913,NM_001105533.1;CPED1,missense_variant,p.Glu143Gly,ENST00000428526,;CPED1,missense_variant,p.Glu143Gly,ENST00000340646,;CPED1,non_coding_transcript_exon_variant,,ENST00000495036,;CPED1,non_coding_transcript_exon_variant,,ENST00000521774,;CPED1,intron_variant,,ENST00000520801,;	uc003vjq.3	c.428A>G	895/5340	3	3			c.428A>G						7	SNP	c.(427-429)GAA>GGA	4	4			ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	Broad	hypothetical protein LOC79974 isoform 1			120655897		0.423	ENSG00000106034	2356	g.chr7:120655897A>G		endoplasmic reticulum								10.915233	KEEP	3	3	-1	22	25	3	3	-1	17.752258	22	25	0.122449	1	0	0	0	0	1	0	0	0	--	--		0	G			C7orf58_uc003vjr.1_Missense_Mutation_p.E143G|C7orf58_uc003vjs.3_Missense_Mutation_p.E143G	46	GBM-06-0209-TP	p.E143G	A	GGGCTACTAGAACAAGGTCAG	NM_024913	NP_079189	120655897	A4D0V7	CG058_HUMAN	0			3	875	+	G	G	all_neural(327;0.117)		Missense_Mutation	143						
CPN2	0	broad.mit.edu	GRCh37	3	194061799	194061799	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01	TCGA-14-1395-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323830.3:c.1633C>T	p.Pro545Ser	p.P545S	ENST00000323830	NM_001080513.2	545	Ccc/Tcc	0			1			A	P/S	uc003fts.2	protein_coding	YES	CCDS33920.1			1633/1638									ovary(5)	5	c.(1633-1635)CCC>TCC				carboxypeptidase N, polypeptide 2				ENSP00000319464		2-Feb									COSM3408525	2-Feb	.		ENST00000323830	Transcript			protein stabilization	extracellular region	enzyme regulator activity	ENSG00000178772	g.chr3:194061799G>A	2313			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=CPN2_HUMAN&rb=511&re=545&var=P545S	NA	getma.org/?cm=var&var=hg19,3,194061799,G,A&fts=all	P545S	--	--	1																																			1	1		probably_damaging(0.999)	p.P545S	NM_001080513	NP_001073982		deleterious_low_confidence(0)	1	CPN2_HUMAN	CPN2	HGNC	P22792	CPN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)			2	1723	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		UPI0001AE76B7	545					SNV	CPN2,missense_variant,p.Pro545Ser,ENST00000323830,NM_001080513.2;CPN2,missense_variant,p.Pro545Ser,ENST00000429275,;	uc003fts.2	c.1633C>T	1723/3028	1	1			c.1633C>T						3	SNP	c.(1633-1635)CCC>TCC	50	50			ovary(5)	5	Broad	carboxypeptidase N, polypeptide 2			194061799		0.652	ENSG00000178772	3745	g.chr3:194061799G>A	protein stabilization	extracellular region	enzyme regulator activity							30.173058	KEEP	3	7	-1	5	4	3	7	-1	30.227214	5	4	0.555556	1	0	0	0	0	1	0	0	0	--	--		0	A				144	GBM-14-1395-TP	p.P545S	G	TGCTACTAGGGCCCTGCTGCC	NM_001080513	NP_001073982	194061799	P22792	CPN2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)	2	1723	-	A	A	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		Missense_Mutation	545						
CPN2	0	broad.mit.edu	GRCh37	3	194062087	194062087	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs142681810		TCGA-41-2571-01	TCGA-41-2571-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323830.3:c.1345C>T	p.Arg449Trp	p.R449W	ENST00000323830	NM_001080513.2	449	Cgg/Tgg	0	A:0		1			A	R/W	uc003fts.2	protein_coding	YES	CCDS33920.1			1345/1638									ovary(5)	5	c.(1345-1347)CGG>TGG			hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF225	carboxypeptidase N, polypeptide 2			A:0.0001	ENSP00000319464		2-Feb	0.000115	9.75E-05		0.000232	0.000605	0.000106			rs142681810,COSM3333884	2-Feb	common_variant		ENST00000323830	Transcript			protein stabilization	extracellular region	enzyme regulator activity	ENSG00000178772	g.chr3:194062087G>A	2313			MODERATE		0.205	neutral	getma.org/?cm=msa&ty=f&p=CPN2_HUMAN&rb=449&re=540&var=R449W	NA	getma.org/?cm=var&var=hg19,3,194062087,G,A&fts=all	R449W	--	--	1																																			0,1	1		benign(0.007)	p.R449W	NM_001080513	NP_001073982		tolerated(0.09)	0,1	CPN2_HUMAN	CPN2	HGNC	P22792	CPN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)			2	1435	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		UPI0001AE76B7	449					SNV	CPN2,missense_variant,p.Arg449Trp,ENST00000323830,NM_001080513.2;CPN2,missense_variant,p.Arg449Trp,ENST00000429275,;	uc003fts.2	c.1345C>T	1435/3028	2	2			c.1345C>T						3	SNP	c.(1345-1347)CGG>TGG	31	31			ovary(5)	5	Broad	carboxypeptidase N, polypeptide 2			194062087		0.647	ENSG00000178772	3745	g.chr3:194062087G>A	protein stabilization	extracellular region	enzyme regulator activity							171.363986	KEEP	33	34	-1	56	58	33	34	-1	173.379463	56	58	0.375839	1	0	0	0	0	1	0	0	0	--	--		0	A				250	GBM-41-2571-TP	p.R449W	G	AAGTGGTCCCGGGTGACGGGA	NM_001080513	NP_001073982	194062087	P22792	CPN2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)	2	1435	-	A	A	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		Missense_Mutation	449						
CPN2	1370		GRCh37	3	194062052	194062052	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000323830.3:c.1380C>T	p.Asp460=	p.D460=	ENST00000323830	NM_001080513.2	460	gaC/gaT	0																																																																																																																																																																																																																																												
CPNE2	0	broad.mit.edu	GRCh37	16	57153520	57153520	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-1970-01	TCGA-32-1970-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290776.8:c.639C>T	p.Pro213=	p.P213=	ENST00000290776	NM_152727.5	213	ccC/ccT	0			1			T	P	uc002eks.1	protein_coding		CCDS10774.1			639/1647									central_nervous_system(1)|skin(1)	2	c.(637-639)CCC>CCT			Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR10857,hmmpanther:PTHR10857:SF3,SMART_domains:SM00239,Superfamily_domains:SSF49562	copine II				ENSP00000290776		16-Jul									COSM3402382	16-Jul	.		ENST00000290776	Transcript						ENSG00000140848	g.chr16:57153520C>T	2315			LOW								--	--	1																																		CPNE2_uc010cct.1_Silent_p.P239P|CPNE2_uc010ccu.1_Silent_p.P213P	1				p.P213P	NM_152727	NP_689940			1	CPNE2_HUMAN	CPNE2	HGNC	Q96FN4	CPNE2_HUMAN			Q719H8_HUMAN,H3BQQ3_HUMAN,H3BPR8_HUMAN		7	868	+		all_neural(199;0.224)	UPI000017DA4F	213			C2 2.		SNV	CPNE2,synonymous_variant,p.=,ENST00000535318,;CPNE2,synonymous_variant,p.=,ENST00000290776,NM_152727.5;CPNE2,synonymous_variant,p.=,ENST00000537605,;CPNE2,synonymous_variant,p.=,ENST00000565874,;CPNE2,synonymous_variant,p.=,ENST00000567487,;CPNE2,synonymous_variant,p.=,ENST00000565766,;CPNE2,upstream_gene_variant,,ENST00000565951,;CPNE2,upstream_gene_variant,,ENST00000566042,;	uc002eks.1	c.639C>T	928/2244	2	2			c.639C>T						16	SNP	c.(637-639)CCC>CCT	46	46			central_nervous_system(1)|skin(1)	2	Broad	copine II			57153520		0.617	ENSG00000140848	3747	g.chr16:57153520C>T										28.970721	KEEP	6	6	-1	8	7	6	6	-1	29.129658	8	7	0.409091	1	0	0	0	0	0	0	1	0	--	--		0	T			CPNE2_uc010cct.1_Silent_p.P239P|CPNE2_uc010ccu.1_Silent_p.P213P	228	GBM-32-1970-TP	p.P213P	C	TCACAGTGCCCTTGGTGTCCC	NM_152727	NP_689940	57153520	Q96FN4	CPNE2_HUMAN	0			7	868	+	T	T		all_neural(199;0.224)	Silent	213			C2 2.			
CPNE4	0	broad.mit.edu	GRCh37	3	131261494	131261494	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01	TCGA-26-6174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000429747.1:c.1446G>A	p.Met482Ile	p.M482I	ENST00000429747	NM_130808.1	482	atG/atA	0			1			T	M/I	uc003eok.2	protein_coding		CCDS3072.1			1446/1674									upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3	c.(1444-1446)ATG>ATA			hmmpanther:PTHR10857,hmmpanther:PTHR10857:SF4,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	copine IV				ENSP00000411904		15/16									COSM3408240,COSM3408241	15/16	.		ENST00000429747	Transcript						ENSG00000196353	g.chr3:131261494C>T	2317			MODERATE		-1.13	neutral	getma.org/?cm=msa&ty=f&p=CPNE4_HUMAN&rb=305&re=507&var=M482I	NA	getma.org/?cm=var&var=hg19,3,131261494,C,T&fts=all	M482I	--	--	1																																		CPNE4_uc011blq.1_Missense_Mutation_p.M500I|CPNE4_uc003eol.2_Missense_Mutation_p.M500I|CPNE4_uc003eom.2_Missense_Mutation_p.M482I|CPNE4_uc003eoj.2_Missense_Mutation_p.M33I	1,1			benign(0.001)	p.M482I	NM_130808	NP_570720		tolerated(0.72)	1,1	CPNE4_HUMAN	CPNE4	HGNC	Q96A23	CPNE4_HUMAN			Q4G168_HUMAN,D6RI99_HUMAN,D6RFY4_HUMAN,D6RCT2_HUMAN		15	1881	-			UPI0000127C14	482			VWFA.		SNV	CPNE4,missense_variant,p.Met482Ile,ENST00000512055,;CPNE4,missense_variant,p.Met482Ile,ENST00000429747,NM_130808.1;CPNE4,missense_variant,p.Met482Ile,ENST00000511604,;CPNE4,missense_variant,p.Met500Ile,ENST00000512332,;CPNE4,missense_variant,p.Met500Ile,ENST00000502818,;CPNE4,upstream_gene_variant,,ENST00000503204,;CPNE4,non_coding_transcript_exon_variant,,ENST00000514439,;CPNE4,non_coding_transcript_exon_variant,,ENST00000515418,;RP11-517B11.6,upstream_gene_variant,,ENST00000512197,;	uc003eok.2	c.1446G>A	1881/2564	1	1			c.1446G>A						3	SNP	c.(1444-1446)ATG>ATA	10	10			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3	Broad	copine IV			131261494		0.557	ENSG00000196353	3749	g.chr3:131261494C>T										43.514033	KEEP	14	12	-1	51	52	14	12	-1	53.409277	51	52	0.198276	1	0	0	0	0	1	0	0	0	--	--		0	T			CPNE4_uc011blq.1_Missense_Mutation_p.M500I|CPNE4_uc003eol.2_Missense_Mutation_p.M500I|CPNE4_uc003eom.2_Missense_Mutation_p.M482I|CPNE4_uc003eoj.2_Missense_Mutation_p.M33I	188	GBM-26-6174-TP	p.M482I	C	CACCGTCCAGCATCTGCATGT	NM_130808	NP_570720	131261494	Q96A23	CPNE4_HUMAN	0			15	1881	-	T	T			Missense_Mutation	482			VWFA.			
CPNE8	144402	broad.mit.edu	GRCh37	12	39124093	39124093	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0210-01	TCGA-06-0210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331366.5:c.790G>A	p.Val264Ile	p.V264I	ENST00000331366	NM_153634.2	264	Gta/Ata	0			1			T	V/I	uc001rls.1	protein_coding	YES	CCDS8733.1			790/1695									pancreas(1)	1	c.(790-792)GTA>ATA			hmmpanther:PTHR10857:SF9,hmmpanther:PTHR10857,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	copine VIII				ENSP00000329748		20-Nov									COSM1249044	20-Nov	.		ENST00000331366	Transcript						ENSG00000139117	g.chr12:39124093C>T	23498			MODERATE		0.98	low	getma.org/?cm=msa&ty=f&p=CPNE8_HUMAN&rb=250&re=327&var=V264I	NA	getma.org/?cm=var&var=hg19,12,39124093,C,T&fts=all	V264I	--	--	1																																			1	1		benign(0.016)	p.V264I	NM_153634	NP_705898		tolerated(0.25)	1	CPNE8_HUMAN	CPNE8	HGNC	Q86YQ8	CPNE8_HUMAN			Q86VY2_HUMAN		11	874	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	UPI000015FF59	264					SNV	CPNE8,missense_variant,p.Val264Ile,ENST00000331366,NM_153634.2;CPNE8,missense_variant,p.Val252Ile,ENST00000360449,;CPNE8,non_coding_transcript_exon_variant,,ENST00000551855,;	uc001rls.1	c.790G>A	887/3489	2	2			c.790G>A						12	SNP	c.(790-792)GTA>ATA	32	32			pancreas(1)	1	Broad	copine VIII			39124093		0.308	ENSG00000139117	3753	g.chr12:39124093C>T										37.122597	KEEP	11	12	-1	33	50	11	12	-1	44.444779	33	50	0.197674	1	0	0	0	0	1	0	0	0	--	--		0	T				47	GBM-06-0210-TP	p.V264I	C	ACCTCATATACGTTGAATTGT	NM_153634	NP_705898	39124093	Q86YQ8	CPNE8_HUMAN	0			11	874	-	T	T	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	Missense_Mutation	264						
CPNE8	0	broad.mit.edu	GRCh37	12	39155951	39155951	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-32-2615-01	TCGA-32-2615-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331366.5:c.643A>T	p.Ile215Phe	p.I215F	ENST00000331366	NM_153634.2	215	Atc/Ttc	0			1			A	I/F	uc001rls.1	protein_coding	YES	CCDS8733.1			643/1695									pancreas(1)	1	c.(643-645)ATC>TTC			PROSITE_profiles:PS50004,hmmpanther:PTHR10857:SF9,hmmpanther:PTHR10857,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	copine VIII				ENSP00000329748		20-Sep									COSM3398685	20-Sep	.		ENST00000331366	Transcript						ENSG00000139117	g.chr12:39155951T>A	23498			MODERATE		1.02	low	getma.org/?cm=msa&ty=f&p=CPNE8_HUMAN&rb=161&re=249&var=I215F	getma.org/pdb.php?prot=CPNE8_HUMAN&from=161&to=249&var=I215F	getma.org/?cm=var&var=hg19,12,39155951,T,A&fts=all	I215F	--	--	1																																			1	1		benign(0.023)	p.I215F	NM_153634	NP_705898		deleterious(0.02)	1	CPNE8_HUMAN	CPNE8	HGNC	Q86YQ8	CPNE8_HUMAN			Q86VY2_HUMAN		9	727	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	UPI000015FF59	215			C2 2.		SNV	CPNE8,missense_variant,p.Ile215Phe,ENST00000331366,NM_153634.2;CPNE8,missense_variant,p.Ile203Phe,ENST00000360449,;CPNE8,non_coding_transcript_exon_variant,,ENST00000551855,;	uc001rls.1	c.643A>T	740/3489	2	2			c.643A>T						12	SNP	c.(643-645)ATC>TTC	25	25			pancreas(1)	1	Broad	copine VIII			39155951		0.308	ENSG00000139117	3753	g.chr12:39155951T>A										124.700797	KEEP	24	22	-1	36	46	24	22	-1	126.224751	36	46	0.371429	1	0	0	0	0	1	0	0	0	--	--		0	A				239	GBM-32-2615-TP	p.I215F	T	CTGACTGAGATCTTGAATGCT	NM_153634	NP_705898	39155951	Q86YQ8	CPNE8_HUMAN	0			9	727	-	A	A	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	Missense_Mutation	215			C2 2.			
CPNE8	0	broad.mit.edu	GRCh37	12	39079420	39079420	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A			TCGA-41-2573-01	TCGA-41-2573-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331366.5:c.1144-1G>T		p.X382_splice	ENST00000331366	NM_153634.2			0			1			A		uc001rls.1	protein_coding	YES	CCDS8733.1			1144/1695									pancreas(1)	1	c.e16-1				copine VIII				ENSP00000329748											COSM3398684		.		ENST00000331366	Transcript						ENSG00000139117	g.chr12:39079420C>A	23498			HIGH	15/19							--	--	1																																		CPNE8_uc001rlr.1_Splice_Site_p.N41_splice	1	1			p.N382_splice	NM_153634	NP_705898			1	CPNE8_HUMAN	CPNE8	HGNC	Q86YQ8	CPNE8_HUMAN			Q86VY2_HUMAN		16	1228	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	UPI000015FF59						SNV	CPNE8,splice_acceptor_variant,,ENST00000331366,NM_153634.2;CPNE8,splice_acceptor_variant,,ENST00000538596,;CPNE8,splice_acceptor_variant,,ENST00000360449,;CPNE8,non_coding_transcript_exon_variant,,ENST00000549842,;	uc001rls.1	c.1144_splice	-/3489	5	1			c.1144_splice						12	SNP	c.e16-1	64	64			pancreas(1)	1	Broad	copine VIII			39079420		0.383	ENSG00000139117	3753	g.chr12:39079420C>A										95.398126	KEEP	16	29	0.644444444	79	69	16	29	0.644444444	107.798376	79	69	0.224719	1	0	0	0	0	0	0	0	1	--	--		0	A			CPNE8_uc001rlr.1_Splice_Site_p.N41_splice	252	GBM-41-2573-TP	p.N382_splice	C	GATTCCCATTCTGTAGAAATT	NM_153634	NP_705898	39079420	Q86YQ8	CPNE8_HUMAN	0			16	1228	-	A	A	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	Splice_Site							
CPNE8	0	broad.mit.edu	GRCh37	12	39268300	39268300	+	stop_gained	Nonsense_Mutation	SNP	T	T	A			TCGA-41-3915-01	TCGA-41-3915-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331366.5:c.112A>T	p.Arg38Ter	p.R38*	ENST00000331366	NM_153634.2	38	Aga/Tga	0			1			A	R/*	uc001rls.1	protein_coding	YES	CCDS8733.1			112/1695									pancreas(1)	1	c.(112-114)AGA>TGA			PROSITE_profiles:PS50004,hmmpanther:PTHR10857:SF9,hmmpanther:PTHR10857,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	copine VIII				ENSP00000329748		20-Feb									COSM3398686	20-Feb	.		ENST00000331366	Transcript						ENSG00000139117	g.chr12:39268300T>A	23498			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,12,39268300,T,A&fts=all	R38*	--	--	1																																			1	1			p.R38*	NM_153634	NP_705898			1	CPNE8_HUMAN	CPNE8	HGNC	Q86YQ8	CPNE8_HUMAN			Q86VY2_HUMAN		2	196	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	UPI000015FF59	38			C2 1.		SNV	CPNE8,stop_gained,p.Arg38Ter,ENST00000331366,NM_153634.2;CPNE8,stop_gained,p.Arg26Ter,ENST00000360449,;CPNE8,5_prime_UTR_variant,,ENST00000550863,;	uc001rls.1	c.112A>T	209/3489	5	1			c.112A>T						12	SNP	c.(112-114)AGA>TGA	61	61			pancreas(1)	1	Broad	copine VIII			39268300		0.264	ENSG00000139117	3753	g.chr12:39268300T>A										58.537698	KEEP	10	13	-1	16	26	10	13	-1	59.295596	16	26	0.367347	1	0	0	0	0	0	1	0	0	--	--		0	A				256	GBM-41-3915-TP	p.R38*	T	AATGTGTCTCTGTCAAGAAGA	NM_153634	NP_705898	39268300	Q86YQ8	CPNE8_HUMAN	0			2	196	-	A	A	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	Nonsense_Mutation	38			C2 1.			
CPO	0	broad.mit.edu	GRCh37	2	207827161	207827161	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-14-0871-01	TCGA-14-0871-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000272852.3:c.600A>T	p.Gln200His	p.Q200H	ENST00000272852	NM_173077.2	200	caA/caT	0			1			T	Q/H	uc002vby.2	protein_coding	YES	CCDS2372.1			600/1125									large_intestine(1)|ovary(1)	2	c.(598-600)CAA>CAT			Gene3D:3.40.630.10,Pfam_domain:PF00246,hmmpanther:PTHR11705,hmmpanther:PTHR11705:SF19,SMART_domains:SM00631,Superfamily_domains:SSF53187	carboxypeptidase O precursor				ENSP00000272852		9-Jul									COSM3407513	9-Jul	.		ENST00000272852	Transcript			proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	ENSG00000144410	g.chr2:207827161A>T	21011			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=CBPO_HUMAN&rb=56&re=336&var=Q200H	getma.org/pdb.php?prot=CBPO_HUMAN&from=56&to=336&var=Q200H	getma.org/?cm=var&var=hg19,2,207827161,A,T&fts=all	Q200H	--	--	1																																			1	1		benign(0.033)	p.Q200H	NM_173077	NP_775100		tolerated(0.14)	1	CBPO_HUMAN	CPO	HGNC	Q8IVL8	CBPO_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)			7	646	+			UPI0000047AEF	200					SNV	CPO,missense_variant,p.Gln200His,ENST00000272852,NM_173077.2;	uc002vby.2	c.600A>T	646/1209	2	2			c.600A>T						2	SNP	c.(598-600)CAA>CAT	30	30			large_intestine(1)|ovary(1)	2	Broad	carboxypeptidase O precursor			207827161		0.448	ENSG00000144410	3755	g.chr2:207827161A>T	proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding							677.704058	KEEP	104	124	-1	32	23	104	124	-1	698.469631	32	23	0.794574	1	0	0	0	0	1	0	0	0	--	--		0	T				141	GBM-14-0871-TP	p.Q200H	A	GAAACTGCCAAGATCAAACAT	NM_173077	NP_775100	207827161	Q8IVL8	CBPO_HUMAN	0		LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)	7	646	+	T	T			Missense_Mutation	200						
CPPED1	0	broad.mit.edu	GRCh37	16	12798557	12798557	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-2528-01	TCGA-27-2528-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381774.4:c.639C>T	p.Ile213=	p.I213=	ENST00000381774	NM_018340.2	213	atC/atT	0			1			A	I	uc002dca.3	protein_coding	YES	CCDS42120.1			639/945										0	c.(637-639)ATC>ATT			hmmpanther:PTHR22953,hmmpanther:PTHR22953:SF0,Pfam_domain:PF00149,Gene3D:3.60.21.10,Superfamily_domains:SSF56300	calcineurin-like phosphoesterase domain				ENSP00000371193		4-Mar	8.25E-06							6.06E-05	rs762127968,COSM967136	4-Mar	.		ENST00000381774	Transcript					hydrolase activity|metal ion binding	ENSG00000103381	g.chr16:12798557G>A	25632			LOW								--	--	1																																		CPPED1_uc002dcb.3_Intron|CPPED1_uc002dbz.3_RNA	0,1	1			p.I213I	NM_018340	NP_060810			0,1	CPPED_HUMAN	CPPED1	HGNC	Q9BRF8	CPPED_HUMAN					3	750	-			UPI000013D1D1	213					SNV	CPPED1,synonymous_variant,p.=,ENST00000381774,NM_018340.2;CPPED1,intron_variant,,ENST00000433677,NM_001099455.1;CPPED1,intron_variant,,ENST00000261660,;	uc002dca.3	c.639C>T	880/3010	1	1			c.639C>T						16	SNP	c.(637-639)ATC>ATT	63	63				0	Broad	calcineurin-like phosphoesterase domain			12798557		0.602	ENSG00000103381	3757	g.chr16:12798557G>A			hydrolase activity|metal ion binding							135.721998	KEEP	18	33	-1	48	45	18	33	-1	138.055584	48	45	0.356589	1	0	0	0	0	0	0	1	0	--	--		0	A			CPPED1_uc002dcb.3_Intron|CPPED1_uc002dbz.3_RNA	205	GBM-27-2528-TP	p.I213I	G	CGTCCTCGTCGATGCTCTCCA	NM_018340	NP_060810	12798557	Q9BRF8	CPPED_HUMAN	0			3	750	-	A	A			Silent	213						
CPQ	10404	broad.mit.edu	GRCh37	8	97797551	97797551	+	synonymous_variant	Silent	SNP	T	T	A			TCGA-06-0744-01	TCGA-06-0744-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000220763.5:c.426T>A	p.Pro142=	p.P142=	ENST00000220763	NM_016134.3	142	ccT/ccA	0			1			A	P	uc003yhw.2	protein_coding	YES	CCDS6273.1			426/1419									upper_aerodigestive_tract(1)	1	c.(424-426)CCT>CCA			hmmpanther:PTHR12053	plasma glutamate carboxypeptidase precursor				ENSP00000220763		8-Feb									COSM2151654	8-Feb	.		ENST00000220763	Transcript			peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity	ENSG00000104324	g.chr8:97797551T>A	16910			LOW								--	--	1																																		PGCP_uc010mbe.2_Silent_p.P142P	1	1			p.P142P	NM_016134	NP_057218			1	CBPQ_HUMAN	CPQ	HGNC	Q9Y646	PGCP_HUMAN			E5RJZ7_HUMAN,E5RJP8_HUMAN,E5RJA8_HUMAN,E5RH35_HUMAN		2	592	+	Breast(36;1.86e-05)		UPI00000706B8	142					SNV	CPQ,synonymous_variant,p.=,ENST00000220763,NM_016134.3;CPQ,synonymous_variant,p.=,ENST00000517742,;CPQ,downstream_gene_variant,,ENST00000521142,;CPQ,downstream_gene_variant,,ENST00000519900,;CPQ,downstream_gene_variant,,ENST00000519484,;CPQ,non_coding_transcript_exon_variant,,ENST00000525310,;	uc003yhw.2	c.426T>A	636/1947	1	1			c.426T>A						8	SNP	c.(424-426)CCT>CCA	64	64			upper_aerodigestive_tract(1)	1	Broad	plasma glutamate carboxypeptidase precursor			97797551		0.398	ENSG00000104324	11590	g.chr8:97797551T>A	peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity							49.869745	KEEP	10	7	-1	12	9	10	7	-1	49.961463	12	9	0.447368	1	0	0	0	0	0	0	1	0	--	--		0	A			PGCP_uc010mbe.2_Silent_p.P142P	66	GBM-06-0744-TP	p.P142P	T	TTGGGACTCCTCCAGAAGGTA	NM_016134	NP_057218	97797551	Q9Y646	PGCP_HUMAN	0			2	592	+	A	A	Breast(36;1.86e-05)		Silent	142						
CPS1	1373	broad.mit.edu	GRCh37	2	211469880	211469880	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0882-01	TCGA-06-0882-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000430249.2:c.1909G>C	p.Glu637Gln	p.E637Q	ENST00000430249	NM_001122633.2	637	Gaa/Caa	0			1			C	E/Q	uc002vee.3	protein_coding		CCDS2393.1			1891/4503									ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13	c.(1891-1893)GAA>CAA			Gene3D:3.30.470.20,Pfam_domain:PF02786,Prints_domain:PR00098,PROSITE_profiles:PS50975,hmmpanther:PTHR11405,hmmpanther:PTHR11405:SF32,Superfamily_domains:SSF56059,TIGRFAM_domain:TIGR01369	carbamoyl-phosphate synthetase 1 isoform b				ENSP00000233072		17/38									COSM2152349,COSM2152348	17/38	.		ENST00000233072	Transcript	1		carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	ENSG00000021826	g.chr2:211469880G>C	2323			MODERATE		4.095	high	getma.org/?cm=msa&ty=f&p=CPSM_HUMAN&rb=546&re=750&var=E631Q	getma.org/pdb.php?prot=CPSM_HUMAN&from=546&to=750&var=E631Q	getma.org/?cm=var&var=hg19,2,211469880,G,C&fts=all	E631Q	--	--	1																																		CPS1_uc010fur.2_Missense_Mutation_p.E637Q|CPS1_uc010fus.2_Missense_Mutation_p.E180Q	1,1			probably_damaging(0.978)	p.E631Q	NM_001875	NP_001866		deleterious(0)	1,1	CPSM_HUMAN	CPS1	HGNC	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Q5R207_HUMAN,C9JTA4_HUMAN,B7ZAW0_HUMAN		17	2023	+			UPI000000D7EC	631			ATP-grasp 1.		SNV	CPS1,missense_variant,p.Glu631Gln,ENST00000233072,NM_001875.4;CPS1,missense_variant,p.Glu637Gln,ENST00000430249,NM_001122633.2;CPS1,missense_variant,p.Glu180Gln,ENST00000451903,NM_001122634.2;CPS1,non_coding_transcript_exon_variant,,ENST00000467353,;	uc002vee.3	c.1891G>C	2087/5821	4	4			c.1891G>C						2	SNP	c.(1891-1893)GAA>CAA	48	48			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13	Broad	carbamoyl-phosphate synthetase 1 isoform b			211469880		0.408	ENSG00000021826	3758	g.chr2:211469880G>C	carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity							110.211508	KEEP	20	17	-1	61	44	20	17	-1	116.910897	61	44	0.268116	1	0	0	0	0	1	0	0	0	--	--		0	C			CPS1_uc010fur.2_Missense_Mutation_p.E637Q|CPS1_uc010fus.2_Missense_Mutation_p.E180Q	77	GBM-06-0882-TP	p.E631Q	G	AGGTTGGAAAGAAATAGAATA	NM_001875	NP_001866	211469880	P31327	CPSM_HUMAN	0		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	17	2023	+	C	C			Missense_Mutation	631			ATP-grasp 1.			
CPS1	0	broad.mit.edu	GRCh37	2	211515146	211515146	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01	TCGA-14-3476-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000233072.5:c.3464C>T	p.Ala1155Val	p.A1155V	ENST00000233072	NM_001875.4	1155	gCg/gTg	0			1			T	A/V	uc002vee.3	protein_coding		CCDS2393.1			3464/4503									ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13	c.(3463-3465)GCG>GTG			Gene3D:3.30.1490.20,Pfam_domain:PF02786,PROSITE_profiles:PS50975,hmmpanther:PTHR11405,hmmpanther:PTHR11405:SF32,Superfamily_domains:SSF56059,TIGRFAM_domain:TIGR01369	carbamoyl-phosphate synthetase 1 isoform b				ENSP00000233072		28/38	8.24E-06					1.50E-05			rs766125631,COSM3407540,COSM3407539	28/38	.		ENST00000233072	Transcript	1		carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	ENSG00000021826	g.chr2:211515146C>T	2323			MODERATE		2.79	medium	getma.org/?cm=msa&ty=f&p=CPSM_HUMAN&rb=1088&re=1291&var=A1155V	getma.org/pdb.php?prot=CPSM_HUMAN&from=1088&to=1291&var=A1155V	getma.org/?cm=var&var=hg19,2,211515146,C,T&fts=all	A1155V	--	--	1																																		CPS1_uc010fur.2_Missense_Mutation_p.A1161V|CPS1_uc010fus.2_Missense_Mutation_p.A704V	0,1,1			probably_damaging(1)	p.A1155V	NM_001875	NP_001866		deleterious(0)	0,1,1	CPSM_HUMAN	CPS1	HGNC	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Q5R207_HUMAN,C9JTA4_HUMAN,B7ZAW0_HUMAN		28	3596	+			UPI000000D7EC	1155			ATP-grasp 2.		SNV	CPS1,missense_variant,p.Ala1155Val,ENST00000233072,NM_001875.4;CPS1,missense_variant,p.Ala1161Val,ENST00000430249,NM_001122633.2;CPS1,missense_variant,p.Ala704Val,ENST00000451903,NM_001122634.2;CPS1,downstream_gene_variant,,ENST00000497121,;	uc002vee.3	c.3464C>T	3660/5821	1	1			c.3464C>T						2	SNP	c.(3463-3465)GCG>GTG	3	3			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13	Broad	carbamoyl-phosphate synthetase 1 isoform b			211515146		0.368	ENSG00000021826	3758	g.chr2:211515146C>T	carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity							153.732327	KEEP	19	36	-1	48	66	19	36	-1	156.688604	48	66	0.350993	1	0	0	0	0	1	0	0	0	--	--		0	T			CPS1_uc010fur.2_Missense_Mutation_p.A1161V|CPS1_uc010fus.2_Missense_Mutation_p.A704V	151	GBM-14-3476-TP	p.A1155V	C	CTAGAAGAGGCGACTAGAGTT	NM_001875	NP_001866	211515146	P31327	CPSM_HUMAN	0		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	28	3596	+	T	T			Missense_Mutation	1155			ATP-grasp 2.			
CPS1	0	broad.mit.edu	GRCh37	2	211441119	211441119	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-27-1832-01	TCGA-27-1832-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000233072.5:c.286A>G	p.Met96Val	p.M96V	ENST00000233072	NM_001875.4	96	Atg/Gtg	0			1			G	M/V	uc002vee.3	protein_coding		CCDS2393.1			286/4503									ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13	c.(286-288)ATG>GTG			Superfamily_domains:0034973,Gene3D:1a9xB01,HAMAP:MF_01209,Pfam_domain:PF00988,hmmpanther:PTHR11405,hmmpanther:PTHR11405:SF32,SMART_domains:SM01097,TIGRFAM_domain:TIGR01368	carbamoyl-phosphate synthetase 1 isoform b				ENSP00000233072		Mar-38									COSM3407534,COSM3407533	Mar-38	.		ENST00000233072	Transcript	1		carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	ENSG00000021826	g.chr2:211441119A>G	2323			MODERATE		1.52	low	getma.org/?cm=msa&ty=f&p=CPSM_HUMAN&rb=44&re=184&var=M96V	getma.org/pdb.php?prot=CPSM_HUMAN&from=44&to=184&var=M96V	getma.org/?cm=var&var=hg19,2,211441119,A,G&fts=all	M96V	--	--	1																																		CPS1_uc010fur.2_Missense_Mutation_p.M102V	1,1			benign(0.053)	p.M96V	NM_001875	NP_001866		tolerated(0.06)	1,1	CPSM_HUMAN	CPS1	HGNC	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Q5R207_HUMAN,C9JTA4_HUMAN,B7ZAW0_HUMAN		3	418	+			UPI000000D7EC	96			Anthranilate phosphoribosyltransferase homolog.		SNV	CPS1,missense_variant,p.Met96Val,ENST00000233072,NM_001875.4;CPS1,missense_variant,p.Met102Val,ENST00000430249,NM_001122633.2;CPS1,missense_variant,p.Met96Val,ENST00000417946,;CPS1,missense_variant,p.Met96Val,ENST00000518043,;CPS1,missense_variant,p.Met102Val,ENST00000523702,;CPS1,upstream_gene_variant,,ENST00000497163,;	uc002vee.3	c.286A>G	482/5821	3	3			c.286A>G						2	SNP	c.(286-288)ATG>GTG	16	16			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13	Broad	carbamoyl-phosphate synthetase 1 isoform b			211441119		0.408	ENSG00000021826	3758	g.chr2:211441119A>G	carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity							246.511612	KEEP	47	39	-1	121	74	47	39	-1	255.220948	121	74	0.302789	1	0	0	0	0	1	0	0	0	--	--		0	G			CPS1_uc010fur.2_Missense_Mutation_p.M102V	191	GBM-27-1832-TP	p.M96V	A	GATTCTCACAATGGCCAACCC	NM_001875	NP_001866	211441119	P31327	CPSM_HUMAN	0		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	3	418	+	G	G			Missense_Mutation	96			Anthranilate phosphoribosyltransferase homolog.			
CPS1	0	broad.mit.edu	GRCh37	2	211481222	211481222	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs148519116		TCGA-27-1833-01	TCGA-27-1833-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000233072.5:c.2644C>T	p.Arg882Cys	p.R882C	ENST00000233072	NM_001875.4	882	Cgt/Tgt	0	T:0		1			T	R/C	uc002vee.3	protein_coding		CCDS2393.1			2644/4503									ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13	c.(2644-2646)CGT>TGT			Superfamily_domains:0034967,Gene3D:1.10.1030.10,Pfam_domain:PF02787,hmmpanther:PTHR11405,hmmpanther:PTHR11405:SF32,SMART_domains:SM01096,TIGRFAM_domain:TIGR01369	carbamoyl-phosphate synthetase 1 isoform b			T:0.0001	ENSP00000233072		21/38	2.47E-05		8.76E-05					0.000121	rs148519116,COSM3407538,COSM3407537	21/38	.		ENST00000233072	Transcript	1		carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	ENSG00000021826	g.chr2:211481222C>T	2323			MODERATE		2.385	medium	getma.org/?cm=msa&ty=f&p=CPSM_HUMAN&rb=839&re=962&var=R882C	getma.org/pdb.php?prot=CPSM_HUMAN&from=839&to=962&var=R882C	getma.org/?cm=var&var=hg19,2,211481222,C,T&fts=all	R882C	--	--	1																																		CPS1_uc010fur.2_Missense_Mutation_p.R888C|CPS1_uc010fus.2_Missense_Mutation_p.R431C|LOC29034_uc002vef.2_5'Flank	0,1,1			possibly_damaging(0.873)	p.R882C	NM_001875	NP_001866		deleterious(0.01)	0,1,1	CPSM_HUMAN	CPS1	HGNC	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Q5R207_HUMAN,C9JTA4_HUMAN,B7ZAW0_HUMAN		21	2776	+			UPI000000D7EC	882					SNV	CPS1,missense_variant,p.Arg882Cys,ENST00000233072,NM_001875.4;CPS1,missense_variant,p.Arg888Cys,ENST00000430249,NM_001122633.2;CPS1,missense_variant,p.Arg431Cys,ENST00000451903,NM_001122634.2;	uc002vee.3	c.2644C>T	2840/5821	2	2			c.2644C>T						2	SNP	c.(2644-2646)CGT>TGT	26	26			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13	Broad	carbamoyl-phosphate synthetase 1 isoform b			211481222		0.408	ENSG00000021826	3758	g.chr2:211481222C>T	carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity							235.59034	KEEP	38	38	-1	48	44	38	38	-1	235.657363	48	44	0.477987	1	0	0	0	0	1	0	0	0	--	--		0	T			CPS1_uc010fur.2_Missense_Mutation_p.R888C|CPS1_uc010fus.2_Missense_Mutation_p.R431C|LOC29034_uc002vef.2_5'Flank	192	GBM-27-1833-TP	p.R882C	C	GTATAAGATGCGTGATATTTT	NM_001875	NP_001866	211481222	P31327	CPSM_HUMAN	0		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	21	2776	+	T	T			Missense_Mutation	882						
CPSF1	0	broad.mit.edu	GRCh37	8	145624415	145624415	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01	TCGA-12-1597-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000349769.3:c.1481C>T	p.Pro494Leu	p.P494L	ENST00000349769	NM_013291.2	494	cCc/cTc	0			1			A	P/L	uc003zcj.2	protein_coding	YES	CCDS34966.1			1481/4332									skin(1)	1	c.(1480-1482)CCC>CTC			hmmpanther:PTHR10644,hmmpanther:PTHR10644:SF2,Pfam_domain:PF10433	cleavage and polyadenylation specific factor 1,				ENSP00000339353		16/38									COSM3412859	16/38	.		ENST00000349769	Transcript			mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	ENSG00000071894	g.chr8:145624415G>A	2324			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=CPSF1_HUMAN&rb=92&re=674&var=P494L	NA	getma.org/?cm=var&var=hg19,8,145624415,G,A&fts=all	P494L	--	--	1																																			1	1		benign(0.012)	p.P494L	NM_013291	NP_037423		tolerated(0.24)	1	CPSF1_HUMAN	CPSF1	HGNC	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		Q9C0J6_HUMAN,E9PIM1_HUMAN,D3DWL9_HUMAN		16	1556	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		UPI00001282EE	494					SNV	CPSF1,missense_variant,p.Pro494Leu,ENST00000349769,NM_013291.2;CPSF1,downstream_gene_variant,,ENST00000531042,;MIR1234,downstream_gene_variant,,ENST00000408875,;MIR939,upstream_gene_variant,,ENST00000401314,;CPSF1,upstream_gene_variant,,ENST00000531727,;CPSF1,upstream_gene_variant,,ENST00000532935,;CPSF1,non_coding_transcript_exon_variant,,ENST00000527916,;CPSF1,downstream_gene_variant,,ENST00000531683,;CPSF1,upstream_gene_variant,,ENST00000531480,;CPSF1,downstream_gene_variant,,ENST00000532560,;CPSF1,upstream_gene_variant,,ENST00000526271,;CPSF1,upstream_gene_variant,,ENST00000527827,;CPSF1,upstream_gene_variant,,ENST00000532725,;CPSF1,upstream_gene_variant,,ENST00000529288,;CPSF1,downstream_gene_variant,,ENST00000533492,;	uc003zcj.2	c.1481C>T	1576/4510	2	2			c.1481C>T						8	SNP	c.(1480-1482)CCC>CTC	23	23			skin(1)	1	Broad	cleavage and polyadenylation specific factor 1,			145624415		0.488	ENSG00000071894	3759	g.chr8:145624415G>A	mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	NSCLC(133;1088 1848 27708 34777 35269)			NSCLC(133;1088 1848 27708 34777 35269)			4.007001	KEEP	1	2	-1	11	10	1	2	-1	7.305902	11	10	0.125	1	0	0	0	0	1	0	0	0	--	--		0	A				124	GBM-12-1597-TP	p.P494L	G	GTCCGGCTCGGGGCTGTTCTG	NM_013291	NP_037423	145624415	Q10570	CPSF1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		16	1556	-	A	A	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	494						
CPSF1	0	broad.mit.edu	GRCh37	8	145620691	145620691	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01	TCGA-28-1753-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000349769.3:c.3055C>T	p.Arg1019Cys	p.R1019C	ENST00000349769	NM_013291.2	1019	Cgc/Tgc	0			1			A	R/C	uc003zcj.2	protein_coding	YES	CCDS34966.1			3055/4332									skin(1)	1	c.(3055-3057)CGC>TGC			hmmpanther:PTHR10644,hmmpanther:PTHR10644:SF2	cleavage and polyadenylation specific factor 1,				ENSP00000339353		27/38	8.24E-06		8.71E-05						rs782785338,COSM1097233	27/38	.		ENST00000349769	Transcript			mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	ENSG00000071894	g.chr8:145620691G>A	2324			MODERATE		2.695	medium	getma.org/?cm=msa&ty=f&p=CPSF1_HUMAN&rb=875&re=1072&var=R1019C	NA	getma.org/?cm=var&var=hg19,8,145620691,G,A&fts=all	R1019C	--	--	1																																		MIR939_hsa-mir-939|MI0005761_5'Flank|CPSF1_uc011lld.1_RNA	0,1	1		probably_damaging(0.993)	p.R1019C	NM_013291	NP_037423		deleterious(0.02)	0,1	CPSF1_HUMAN	CPSF1	HGNC	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		Q9C0J6_HUMAN,E9PIM1_HUMAN,D3DWL9_HUMAN		27	3130	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		UPI00001282EE	1019					SNV	CPSF1,missense_variant,p.Arg1019Cys,ENST00000349769,NM_013291.2;ADCK5,downstream_gene_variant,,ENST00000308860,NM_174922.4;ADCK5,downstream_gene_variant,,ENST00000532190,;MIR1234,downstream_gene_variant,,ENST00000408875,;MIR939,upstream_gene_variant,,ENST00000401314,;ADCK5,downstream_gene_variant,,ENST00000526231,;ADCK5,downstream_gene_variant,,ENST00000534714,;CPSF1,upstream_gene_variant,,ENST00000531727,;CPSF1,upstream_gene_variant,,ENST00000532935,;CPSF1,non_coding_transcript_exon_variant,,ENST00000529288,;ADCK5,downstream_gene_variant,,ENST00000529654,;CPSF1,downstream_gene_variant,,ENST00000531683,;ADCK5,downstream_gene_variant,,ENST00000533715,;CPSF1,upstream_gene_variant,,ENST00000531480,;CPSF1,downstream_gene_variant,,ENST00000532560,;CPSF1,upstream_gene_variant,,ENST00000526271,;ADCK5,downstream_gene_variant,,ENST00000526833,;CPSF1,downstream_gene_variant,,ENST00000527827,;CPSF1,upstream_gene_variant,,ENST00000532725,;CPSF1,downstream_gene_variant,,ENST00000533492,;CPSF1,downstream_gene_variant,,ENST00000527916,;	uc003zcj.2	c.3055C>T	3150/4510	2	2			c.3055C>T						8	SNP	c.(3055-3057)CGC>TGC	21	21			skin(1)	1	Broad	cleavage and polyadenylation specific factor 1,			145620691		0.667	ENSG00000071894	3759	g.chr8:145620691G>A	mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	NSCLC(133;1088 1848 27708 34777 35269)			NSCLC(133;1088 1848 27708 34777 35269)			-5.801343	KEEP	0	4	-1	22	40	0	4	-1	6.508378	22	40	0.051724	1	0	0	0	0	1	0	0	0	--	--		0	A			MIR939_hsa-mir-939|MI0005761_5'Flank|CPSF1_uc011lld.1_RNA	207	GBM-28-1753-TP	p.R1019C	G	GCCGTGCAGCGCAGCGGGATC	NM_013291	NP_037423	145620691	Q10570	CPSF1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		27	3130	-	A	A	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	1019						
CPSF1	0	broad.mit.edu	GRCh37	8	145624369	145624369	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2615-01	TCGA-32-2615-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000349769.3:c.1527C>T	p.Asn509=	p.N509=	ENST00000349769	NM_013291.2	509	aaC/aaT	0	A:0		1			A	N	uc003zcj.2	protein_coding	YES	CCDS34966.1			1527/4332									skin(1)	1	c.(1525-1527)AAC>AAT			hmmpanther:PTHR10644,hmmpanther:PTHR10644:SF2,Pfam_domain:PF10433	cleavage and polyadenylation specific factor 1,			A:0.0001	ENSP00000339353		16/38									rs371053206,COSM3412858	16/38	.		ENST00000349769	Transcript			mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	ENSG00000071894	g.chr8:145624369G>A	2324			LOW								--	--	1																																			0,1	1			p.N509N	NM_013291	NP_037423			0,1	CPSF1_HUMAN	CPSF1	HGNC	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		Q9C0J6_HUMAN,E9PIM1_HUMAN,D3DWL9_HUMAN		16	1602	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		UPI00001282EE	509					SNV	CPSF1,synonymous_variant,p.=,ENST00000349769,NM_013291.2;CPSF1,downstream_gene_variant,,ENST00000531042,;MIR1234,downstream_gene_variant,,ENST00000408875,;MIR939,upstream_gene_variant,,ENST00000401314,;CPSF1,upstream_gene_variant,,ENST00000531727,;CPSF1,upstream_gene_variant,,ENST00000532935,;CPSF1,non_coding_transcript_exon_variant,,ENST00000527916,;CPSF1,downstream_gene_variant,,ENST00000531683,;CPSF1,upstream_gene_variant,,ENST00000531480,;CPSF1,downstream_gene_variant,,ENST00000532560,;CPSF1,upstream_gene_variant,,ENST00000526271,;CPSF1,upstream_gene_variant,,ENST00000527827,;CPSF1,upstream_gene_variant,,ENST00000532725,;CPSF1,upstream_gene_variant,,ENST00000529288,;CPSF1,downstream_gene_variant,,ENST00000533492,;	uc003zcj.2	c.1527C>T	1622/4510	2	2			c.1527C>T						8	SNP	c.(1525-1527)AAC>AAT	23	23			skin(1)	1	Broad	cleavage and polyadenylation specific factor 1,			145624369		0.627	ENSG00000071894	3759	g.chr8:145624369G>A	mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	NSCLC(133;1088 1848 27708 34777 35269)			NSCLC(133;1088 1848 27708 34777 35269)			32.422701	KEEP	4	12	-1	5	9	4	12	-1	32.458902	5	9	0.458333	1	0	0	0	0	0	0	1	0	--	--		0	A				239	GBM-32-2615-TP	p.N509N	G	ACAAAGCCCCGTTCTTCCCGT	NM_013291	NP_037423	145624369	Q10570	CPSF1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		16	1602	-	A	A	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Silent	509						
CPSF3L	0	broad.mit.edu	GRCh37	1	1248063	1248063	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01	TCGA-06-0124-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000540437.1:c.1330C>T	p.Pro444Ser	p.P444S	ENST00000540437	NM_001256456.1	444	Ccg/Tcg	0			1			A	P/S	uc001aee.1	protein_coding		CCDS21.1			1312/1803										0	c.(1312-1314)CCG>TCG			hmmpanther:PTHR11203,hmmpanther:PTHR11203:SF11,Superfamily_domains:SSF56281	cleavage and polyadenylation specific factor				ENSP00000413493		13/17									COSM3399621	13/17	.		ENST00000435064	Transcript				Golgi apparatus|nucleus	hydrolase activity	ENSG00000127054	g.chr1:1248063G>A	26052			MODERATE		2.455	medium	getma.org/?cm=msa&ty=f&p=INT11_HUMAN&rb=419&re=600&var=P438S	NA	getma.org/?cm=var&var=hg19,1,1248063,G,A&fts=all	P438S	--	--	1																																		CPSF3L_uc009vjy.1_RNA|CPSF3L_uc001aef.1_Missense_Mutation_p.P444S|CPSF3L_uc009vjz.1_Missense_Mutation_p.P416S|CPSF3L_uc010nyj.1_Missense_Mutation_p.P409S|CPSF3L_uc001aeg.1_Missense_Mutation_p.P314S|CPSF3L_uc001aeh.1_Missense_Mutation_p.P337S|CPSF3L_uc001aei.1_Missense_Mutation_p.P340S|CPSF3L_uc001aej.1_Missense_Mutation_p.P265S|CPSF3L_uc001aek.1_Missense_Mutation_p.P180S	1			probably_damaging(1)	p.P438S	NM_017871	NP_060341		deleterious(0)	1	INT11_HUMAN	CPSF3L	HGNC	Q5TA45	INT11_HUMAN		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)	J3QRY6_HUMAN,E9PNH9_HUMAN		13	1370	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	UPI00000467EC	438					SNV	CPSF3L,missense_variant,p.Pro444Ser,ENST00000540437,NM_001256456.1;CPSF3L,missense_variant,p.Pro438Ser,ENST00000435064,NM_017871.5,NM_001256460.1;CPSF3L,missense_variant,p.Pro409Ser,ENST00000545578,;CPSF3L,missense_variant,p.Pro180Ser,ENST00000421495,;CPSF3L,missense_variant,p.Pro416Ser,ENST00000450926,;CPSF3L,missense_variant,p.Pro340Ser,ENST00000411962,NM_001256462.1;CPSF3L,missense_variant,p.Pro337Ser,ENST00000419704,NM_001256463.1;ACAP3,upstream_gene_variant,,ENST00000354700,NM_030649.2;ACAP3,upstream_gene_variant,,ENST00000353662,;PUSL1,downstream_gene_variant,,ENST00000379031,NM_153339.1;CPSF3L,downstream_gene_variant,,ENST00000434694,;PUSL1,downstream_gene_variant,,ENST00000467712,;CPSF3L,downstream_gene_variant,,ENST00000530031,;CPSF3L,downstream_gene_variant,,ENST00000527719,;CPSF3L,downstream_gene_variant,,ENST00000526332,;RP5-890O3.9,downstream_gene_variant,,ENST00000444968,;CPSF3L,non_coding_transcript_exon_variant,,ENST00000462432,;PUSL1,downstream_gene_variant,,ENST00000470520,;ACAP3,upstream_gene_variant,,ENST00000438966,;CPSF3L,3_prime_UTR_variant,,ENST00000458452,;CPSF3L,3_prime_UTR_variant,,ENST00000527098,;CPSF3L,3_prime_UTR_variant,,ENST00000532772,;CPSF3L,3_prime_UTR_variant,,ENST00000528879,;CPSF3L,non_coding_transcript_exon_variant,,ENST00000478641,;CPSF3L,non_coding_transcript_exon_variant,,ENST00000323275,;CPSF3L,non_coding_transcript_exon_variant,,ENST00000470030,;CPSF3L,non_coding_transcript_exon_variant,,ENST00000497304,;CPSF3L,non_coding_transcript_exon_variant,,ENST00000461514,;CPSF3L,non_coding_transcript_exon_variant,,ENST00000485710,;CPSF3L,non_coding_transcript_exon_variant,,ENST00000525164,;CPSF3L,non_coding_transcript_exon_variant,,ENST00000525769,;ACAP3,upstream_gene_variant,,ENST00000472541,;PUSL1,downstream_gene_variant,,ENST00000493657,;CPSF3L,downstream_gene_variant,,ENST00000488042,;PUSL1,downstream_gene_variant,,ENST00000463758,;CPSF3L,downstream_gene_variant,,ENST00000430786,;CPSF3L,downstream_gene_variant,,ENST00000531377,;CPSF3L,downstream_gene_variant,,ENST00000525603,;CPSF3L,downstream_gene_variant,,ENST00000531292,;CPSF3L,downstream_gene_variant,,ENST00000527383,;CPSF3L,downstream_gene_variant,,ENST00000526797,;CPSF3L,downstream_gene_variant,,ENST00000467408,;CPSF3L,downstream_gene_variant,,ENST00000526113,;ACAP3,upstream_gene_variant,,ENST00000354980,;CPSF3L,downstream_gene_variant,,ENST00000526904,;CPSF3L,downstream_gene_variant,,ENST00000531020,;ACAP3,upstream_gene_variant,,ENST00000479108,;CPSF3L,downstream_gene_variant,,ENST00000533916,;	uc001aee.1	c.1312C>T	1395/2148	2	2			c.1312C>T						1	SNP	c.(1312-1314)CCG>TCG	34	34				0	Broad	cleavage and polyadenylation specific factor			1248063		0.716	ENSG00000127054	3762	g.chr1:1248063G>A		Golgi apparatus|nucleus	hydrolase activity							-13.062194	KEEP	3	1	-1	56	43	3	1	-1	6.914555	56	43	0.044444	1	0	0	0	0	1	0	0	0	--	--		0	A			CPSF3L_uc009vjy.1_RNA|CPSF3L_uc001aef.1_Missense_Mutation_p.P444S|CPSF3L_uc009vjz.1_Missense_Mutation_p.P416S|CPSF3L_uc010nyj.1_Missense_Mutation_p.P409S|CPSF3L_uc001aeg.1_Missense_Mutation_p.P314S|CPSF3L_uc001aeh.1_Missense_Mutation_p.P337S|CPSF3L_uc001aei.1_Missense_Mutation_p.P340S|CPSF3L_uc001aej.1_Missense_Mutation_p.P265S|CPSF3L_uc001aek.1_Missense_Mutation_p.P180S	11	GBM-06-0124-TP	p.P438S	G	CCATTGGCCGGCATGTAGCAG	NM_017871	NP_060341	1248063	Q5TA45	INT11_HUMAN	0		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)	13	1370	-	A	A	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	Missense_Mutation	438						
CPSF3L	0	broad.mit.edu	GRCh37	1	1256376	1256376	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A			TCGA-28-5214-01	TCGA-28-5214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000435064.1:c.126C>T	p.Asp42=	p.D42=	ENST00000435064	NM_017871.5	42	gaC/gaT	0			1			A	D	uc001aee.1	protein_coding		CCDS21.1			126/1803										0	c.(124-126)GAC>GAT			hmmpanther:PTHR11203,hmmpanther:PTHR11203:SF11,Gene3D:3.60.15.10,Pfam_domain:PF00753,SMART_domains:SM00849,Superfamily_domains:SSF56281	cleavage and polyadenylation specific factor				ENSP00000413493		17-Feb									COSM2180761	17-Feb	.		ENST00000435064	Transcript				Golgi apparatus|nucleus	hydrolase activity	ENSG00000127054	g.chr1:1256376G>A	26052			LOW								--	--	1																																		CPSF3L_uc001aef.1_Silent_p.D48D|CPSF3L_uc009vjz.1_Silent_p.D42D|CPSF3L_uc010nyj.1_Silent_p.D13D|CPSF3L_uc001aeg.1_Translation_Start_Site|CPSF3L_uc001aeh.1_Silent_p.D42D|CPSF3L_uc001aei.1_Intron|CPSF3L_uc001aej.1_Missense_Mutation_p.T15I|CPSF3L_uc001aek.1_Intron|CPSF3L_uc001aem.1_Silent_p.D42D|CPSF3L_uc001ael.1_Translation_Start_Site|CPSF3L_uc001aen.1_Silent_p.D42D	1				p.D42D	NM_017871	NP_060341			1	INT11_HUMAN	CPSF3L	HGNC	Q5TA45	INT11_HUMAN		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)	J3QRY6_HUMAN,E9PNH9_HUMAN		2	184	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	UPI00000467EC	42					SNV	CPSF3L,splice_region_variant,p.=,ENST00000540437,NM_001256456.1;CPSF3L,splice_region_variant,p.=,ENST00000435064,NM_017871.5,NM_001256460.1;CPSF3L,splice_region_variant,p.=,ENST00000545578,;CPSF3L,splice_region_variant,p.=,ENST00000450926,;CPSF3L,splice_region_variant,p.=,ENST00000419704,NM_001256463.1;CPSF3L,splice_region_variant,p.=,ENST00000434694,;CPSF3L,splice_region_variant,p.=,ENST00000530031,;CPSF3L,splice_region_variant,p.=,ENST00000527719,;CPSF3L,splice_region_variant,p.=,ENST00000498476,;CPSF3L,splice_region_variant,p.=,ENST00000534345,;CPSF3L,intron_variant,,ENST00000421495,;CPSF3L,intron_variant,,ENST00000411962,NM_001256462.1;CPSF3L,intron_variant,,ENST00000526332,;GLTPD1,upstream_gene_variant,,ENST00000343938,NM_001029885.1;GLTPD1,upstream_gene_variant,,ENST00000488011,;RP5-890O3.9,upstream_gene_variant,,ENST00000444968,;CPSF3L,splice_region_variant,,ENST00000493534,;CPSF3L,splice_region_variant,,ENST00000532952,;CPSF3L,splice_region_variant,,ENST00000490853,;CPSF3L,upstream_gene_variant,,ENST00000462432,;GLTPD1,upstream_gene_variant,,ENST00000464957,;CPSF3L,missense_variant,p.Thr78Ile,ENST00000527098,;CPSF3L,splice_region_variant,,ENST00000458452,;CPSF3L,splice_region_variant,p.=,ENST00000532772,;CPSF3L,splice_region_variant,p.=,ENST00000528879,;CPSF3L,splice_region_variant,,ENST00000488042,;CPSF3L,splice_region_variant,,ENST00000429572,;CPSF3L,splice_region_variant,,ENST00000430786,;CPSF3L,splice_region_variant,p.=,ENST00000526797,;CPSF3L,splice_region_variant,p.=,ENST00000470679,;CPSF3L,splice_region_variant,,ENST00000525285,;CPSF3L,splice_region_variant,p.=,ENST00000531019,;CPSF3L,non_coding_transcript_exon_variant,,ENST00000323275,;CPSF3L,non_coding_transcript_exon_variant,,ENST00000496353,;CPSF3L,non_coding_transcript_exon_variant,,ENST00000498173,;CPSF3L,intron_variant,,ENST00000526113,;CPSF3L,intron_variant,,ENST00000526904,;CPSF3L,upstream_gene_variant,,ENST00000531377,;CPSF3L,upstream_gene_variant,,ENST00000525603,;CPSF3L,downstream_gene_variant,,ENST00000530233,;	uc001aee.1	c.126C>T	209/2148	1	1			c.126C>T						1	SNP	c.(124-126)GAC>GAT	49	49				0	Broad	cleavage and polyadenylation specific factor			1256376		0.647	ENSG00000127054	3762	g.chr1:1256376G>A		Golgi apparatus|nucleus	hydrolase activity							168.259467	KEEP	33	31	-1	48	84	33	31	-1	172.204443	48	84	0.340782	1	0	0	0	0	0	0	1	0	--	--		0	A			CPSF3L_uc001aef.1_Silent_p.D48D|CPSF3L_uc009vjz.1_Silent_p.D42D|CPSF3L_uc010nyj.1_Silent_p.D13D|CPSF3L_uc001aeg.1_Translation_Start_Site|CPSF3L_uc001aeh.1_Silent_p.D42D|CPSF3L_uc001aei.1_Intron|CPSF3L_uc001aej.1_Missense_Mutation_p.T15I|CPSF3L_uc001aek.1_Intron|CPSF3L_uc001aem.1_Silent_p.D42D|CPSF3L_uc001ael.1_Translation_Start_Site|CPSF3L_uc001aen.1_Silent_p.D42D	221	GBM-28-5214-TP	p.D42D	G	AGGGACTCACGTCGTCATTGA	NM_017871	NP_060341	1256376	Q5TA45	INT11_HUMAN	0		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)	2	184	-	A	A	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	Silent	42						
CPSF6	11052	broad.mit.edu	GRCh37	12	69653833	69653833	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0174-01	TCGA-06-0174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000435070.2:c.1325G>T	p.Gly442Val	p.G442V	ENST00000435070	NM_007007.2	442	gGg/gTg	0			1			T	G/V	uc001sut.3	protein_coding	YES	CCDS8988.1			1325/1656										0	c.(1324-1326)GGG>GTG			hmmpanther:PTHR23204,hmmpanther:PTHR23204:SF3	cleavage and polyadenylation specific factor 6,				ENSP00000391774		10-Aug									COSM3399041,COSM3399043,COSM3399042	10-Aug	.		ENST00000435070	Transcript			mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	ENSG00000111605	g.chr12:69653833G>T	13871			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=CPSF6_HUMAN&rb=354&re=551&var=G442V	NA	getma.org/?cm=var&var=hg19,12,69653833,G,T&fts=all	G442V	--	--	1																																		CPSF6_uc001suu.3_Missense_Mutation_p.G479V|CPSF6_uc010stk.1_Missense_Mutation_p.G73V	1,1,1	1		possibly_damaging(0.897)	p.G442V	NM_007007	NP_008938		tolerated(0.08)	1,1,1	CPSF6_HUMAN	CPSF6	HGNC	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)				8	1435	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		UPI00001FC746	442					SNV	CPSF6,missense_variant,p.Gly442Val,ENST00000435070,NM_007007.2;CPSF6,missense_variant,p.Gly479Val,ENST00000266679,;CPSF6,missense_variant,p.Gly369Val,ENST00000456847,;CPSF6,intron_variant,,ENST00000551516,;CPSF6,downstream_gene_variant,,ENST00000550987,;CPSF6,downstream_gene_variant,,ENST00000547486,;	uc001sut.3	c.1325G>T	1435/6616	2	2			c.1325G>T						12	SNP	c.(1324-1326)GGG>GTG	32	32				0	Broad	cleavage and polyadenylation specific factor 6,			69653833		0.328	ENSG00000111605	3764	g.chr12:69653833G>T	mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding							500.254768	KEEP	101	78	0.56424581	66	48	101	78	0.56424581	503.008609	66	48	0.611111	1	0	0	0	0	1	0	0	0	--	--		0	T			CPSF6_uc001suu.3_Missense_Mutation_p.G479V|CPSF6_uc010stk.1_Missense_Mutation_p.G73V	37	GBM-06-0174-TP	p.G442V	G	GGTGATTATGGGAGTGCTATT	NM_007007	NP_008938	69653833	Q16630	CPSF6_HUMAN	0	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		8	1435	+	T	T	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Missense_Mutation	442						
CPSF6	11052	broad.mit.edu	GRCh37	12	69646899	69646899	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0195-01	TCGA-06-0195-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000435070.2:c.339A>C	p.Lys113Asn	p.K113N	ENST00000435070	NM_007007.2	113	aaA/aaC	0			1			C	K/N	uc001sut.3	protein_coding	YES	CCDS8988.1			339/1656										0	c.(337-339)AAA>AAC			PROSITE_profiles:PS50102,hmmpanther:PTHR23204,hmmpanther:PTHR23204:SF3,Gene3D:3.30.70.330,Pfam_domain:PF14259,SMART_domains:SM00360,Superfamily_domains:SSF54928	cleavage and polyadenylation specific factor 6,				ENSP00000391774		10-Mar									COSM3399035,COSM3399037,COSM3399036	10-Mar	.		ENST00000435070	Transcript			mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	ENSG00000111605	g.chr12:69646899A>C	13871			MODERATE		2.285	medium	getma.org/?cm=msa&ty=f&p=CPSF6_HUMAN&rb=83&re=153&var=K113N	getma.org/pdb.php?prot=CPSF6_HUMAN&from=83&to=153&var=K113N	getma.org/?cm=var&var=hg19,12,69646899,A,C&fts=all	K113N	--	--	1																																		CPSF6_uc001suu.3_Missense_Mutation_p.K113N	1,1,1	1		unknown(0)	p.K113N	NM_007007	NP_008938		deleterious(0)	1,1,1	CPSF6_HUMAN	CPSF6	HGNC	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)				3	449	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		UPI00001FC746	113			RRM.|Necessary for interaction with NUDT21/CPSF5.		SNV	CPSF6,missense_variant,p.Lys113Asn,ENST00000435070,NM_007007.2;CPSF6,missense_variant,p.Lys113Asn,ENST00000266679,;CPSF6,missense_variant,p.Lys113Asn,ENST00000456847,;CPSF6,intron_variant,,ENST00000551516,;CPSF6,non_coding_transcript_exon_variant,,ENST00000550987,;CPSF6,non_coding_transcript_exon_variant,,ENST00000547486,;CPSF6,downstream_gene_variant,,ENST00000550075,;	uc001sut.3	c.339A>C	449/6616	3	3			c.339A>C						12	SNP	c.(337-339)AAA>AAC	5	5				0	Broad	cleavage and polyadenylation specific factor 6,			69646899		0.323	ENSG00000111605	3764	g.chr12:69646899A>C	mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding							62.908043	KEEP	9	15	-1	24	27	9	15	-1	64.698854	24	27	0.316667	1	0	0	0	0	1	0	0	0	--	--		0	C			CPSF6_uc001suu.3_Missense_Mutation_p.K113N	45	GBM-06-0195-TP	p.K113N	A	TGGAGATAAAATTTTTTGAAA	NM_007007	NP_008938	69646899	Q16630	CPSF6_HUMAN	0	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		3	449	+	C	C	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Missense_Mutation	113			RRM.|Necessary for interaction with NUDT21/CPSF5.			
CPSF6	0	broad.mit.edu	GRCh37	12	69652697	69652697	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01	TCGA-14-0740-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000435070.2:c.1022C>T	p.Pro341Leu	p.P341L	ENST00000435070	NM_007007.2	341	cCg/cTg	0			1			T	P/L	uc001sut.3	protein_coding	YES	CCDS8988.1			1022/1656										0	c.(1021-1023)CCG>CTG			Low_complexity_(Seg):seg,hmmpanther:PTHR23204,hmmpanther:PTHR23204:SF3	cleavage and polyadenylation specific factor 6,				ENSP00000391774		10-Jun	8.24E-06					1.50E-05			rs775771978,COSM3399038,COSM3399040,COSM3399039	10-Jun	.		ENST00000435070	Transcript			mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	ENSG00000111605	g.chr12:69652697C>T	13871			MODERATE		1.28	low	getma.org/?cm=msa&ty=f&p=CPSF6_HUMAN&rb=154&re=353&var=P341L	NA	getma.org/?cm=var&var=hg19,12,69652697,C,T&fts=all	P341L	--	--	1																																		CPSF6_uc001suu.3_Missense_Mutation_p.P378L|CPSF6_uc010stk.1_5'UTR	0,1,1,1	1		unknown(0)	p.P341L	NM_007007	NP_008938		tolerated(0.11)	0,1,1,1	CPSF6_HUMAN	CPSF6	HGNC	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)				6	1132	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		UPI00001FC746	341			Pro-rich.		SNV	CPSF6,missense_variant,p.Pro341Leu,ENST00000435070,NM_007007.2;CPSF6,missense_variant,p.Pro378Leu,ENST00000266679,;CPSF6,missense_variant,p.Pro268Leu,ENST00000456847,;CPSF6,intron_variant,,ENST00000551516,;CPSF6,downstream_gene_variant,,ENST00000550987,;CPSF6,downstream_gene_variant,,ENST00000547486,;	uc001sut.3	c.1022C>T	1132/6616	1	1			c.1022C>T						12	SNP	c.(1021-1023)CCG>CTG	6	6				0	Broad	cleavage and polyadenylation specific factor 6,			69652697		0.617	ENSG00000111605	3764	g.chr12:69652697C>T	mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding							179.912308	KEEP	36	31	-1	43	43	36	31	-1	180.541952	43	43	0.427536	1	0	0	0	0	1	0	0	0	--	--		0	T			CPSF6_uc001suu.3_Missense_Mutation_p.P378L|CPSF6_uc010stk.1_5'UTR	132	GBM-14-0740-TP	p.P341L	C	GCTCCTCCTCCGCATCTTCCT	NM_007007	NP_008938	69652697	Q16630	CPSF6_HUMAN	0	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		6	1132	+	T	T	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Missense_Mutation	341			Pro-rich.			
CPSF6	11052		GRCh37	12	69645041	69645041	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000435070.2:c.193G>C	p.Gly65Arg	p.G65R	ENST00000435070	NM_007007.2	65	Ggt/Cgt	0																																																																																																																																																																																																																																												
CPT1A	1374	broad.mit.edu	GRCh37	11	68579934	68579934	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0645-01	TCGA-06-0645-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265641.5:c.252T>C	p.Ile84=	p.I84=	ENST00000265641	NM_001876.3	84	atT/atC	0			1			G	I	uc001oog.3	protein_coding	YES	CCDS8185.1			252/2322									skin(2)	2	c.(250-252)ATT>ATC			Transmembrane_helices:TMhelix,hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF49	carnitine palmitoyltransferase 1A liver isoform	L-Carnitine(DB00583)|Perhexiline(DB01074)			ENSP00000265641		19-Mar									COSM3398087,COSM3398088	19-Mar	.		ENST00000265641	Transcript	1		carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	ENSG00000110090	g.chr11:68579934A>G	2328			LOW								--	--	1																																		CPT1A_uc001oof.3_Silent_p.I84I|CPT1A_uc009ysj.2_Silent_p.I84I	1,1	1			p.I84I	NM_001876	NP_001867			1,1	CPT1A_HUMAN	CPT1A	HGNC	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Q8WZ48_HUMAN,H3BUV7_HUMAN,H3BUJ0_HUMAN,H3BP22_HUMAN		3	422	-	Esophageal squamous(3;3.28e-14)		UPI000013D658	84			Mitochondrial intermembrane (Potential).		SNV	CPT1A,synonymous_variant,p.=,ENST00000265641,NM_001876.3;CPT1A,synonymous_variant,p.=,ENST00000376618,NM_001031847.2;CPT1A,synonymous_variant,p.=,ENST00000540367,;CPT1A,synonymous_variant,p.=,ENST00000539743,;CPT1A,synonymous_variant,p.=,ENST00000561996,;CPT1A,synonymous_variant,p.=,ENST00000565318,;CPT1A,synonymous_variant,p.=,ENST00000569129,;	uc001oog.3	c.252T>C	407/5232	3	3			c.252T>C						11	SNP	c.(250-252)ATT>ATC	3	3			skin(2)	2	Broad	carnitine palmitoyltransferase 1A liver isoform		L-Carnitine(DB00583)|Perhexiline(DB01074)	68579934		0.473	ENSG00000110090	3766	g.chr11:68579934A>G	carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity							-29.027941	KEEP	2	3	-1	80	81	2	3	-1	6.960626	80	81	0.027397	1	0	0	0	0	0	0	1	0	--	--		0	G			CPT1A_uc001oof.3_Silent_p.I84I|CPT1A_uc009ysj.2_Silent_p.I84I	59	GBM-06-0645-TP	p.I84I	A	TGATTTTTGCAATTATTCCTA	NM_001876	NP_001867	68579934	P50416	CPT1A_HUMAN	0	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		3	422	-	G	G	Esophageal squamous(3;3.28e-14)		Silent	84			Mitochondrial intermembrane (Potential).			
CPT1A	1374		GRCh37	11	68549243	68549243	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000265641.5:c.1348G>A	p.Asp450Asn	p.D450N	ENST00000265641	NM_001876.3	450	Gac/Aac	0																																																																																																																																																																																																																																												
CPT1C	0	broad.mit.edu	GRCh37	19	50208532	50208532	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01	TCGA-27-1830-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323446.5:c.941C>T	p.Thr314Met	p.T314M	ENST00000323446	NM_152359.2	314	aCg/aTg	0			1			T	T/M	uc002ppj.2	protein_coding		CCDS12779.1			941/2412									ovary(1)|central_nervous_system(1)|pancreas(1)	3	c.(940-942)ACG>ATG			hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF55,Pfam_domain:PF00755,Superfamily_domains:SSF52777	carnitine palmitoyltransferase 1C isoform 2				ENSP00000319343		19-Sep	1.65E-05			0.000116		1.52E-05			rs779343090,COSM3404462	19-Sep	.		ENST00000323446	Transcript			fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	ENSG00000169169	g.chr19:50208532C>T	18540			MODERATE		2.78	medium	getma.org/?cm=msa&ty=f&p=CPT1C_HUMAN&rb=170&re=760&var=T314M	getma.org/pdb.php?prot=CPT1C_HUMAN&from=170&to=760&var=T314M	getma.org/?cm=var&var=hg19,19,50208532,C,T&fts=all	T314M	--	--	1																																		CPT1C_uc002ppl.3_Missense_Mutation_p.T280M|CPT1C_uc002ppi.2_Missense_Mutation_p.T231M|CPT1C_uc002ppk.2_Missense_Mutation_p.T303M|CPT1C_uc010eng.2_Missense_Mutation_p.T314M|CPT1C_uc010enh.2_Missense_Mutation_p.T314M|CPT1C_uc010ybc.1_Missense_Mutation_p.T185M|CPT1C_uc010eni.1_5'Flank	0,1			probably_damaging(0.985)	p.T314M	NM_152359	NP_689572		deleterious(0)	0,1	CPT1C_HUMAN	CPT1C	HGNC	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	M0R2V3_HUMAN,M0R115_HUMAN,M0QZ13_HUMAN,B3KU49_HUMAN		9	1146	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	UPI0000071C78	314			Cytoplasmic (Potential).		SNV	CPT1C,missense_variant,p.Thr314Met,ENST00000392518,NM_001199752.1;CPT1C,missense_variant,p.Thr303Met,ENST00000405931,NM_001136052.2;CPT1C,missense_variant,p.Thr314Met,ENST00000323446,NM_152359.2;CPT1C,missense_variant,p.Thr314Met,ENST00000598293,NM_001199753.1;CPT1C,missense_variant,p.Thr314Met,ENST00000354199,;CPT1C,upstream_gene_variant,,ENST00000595031,;CPT1C,downstream_gene_variant,,ENST00000598396,;CPT1C,downstream_gene_variant,,ENST00000594587,;CPT1C,downstream_gene_variant,,ENST00000602019,;CPT1C,downstream_gene_variant,,ENST00000595969,;CPT1C,3_prime_UTR_variant,,ENST00000598259,;CPT1C,3_prime_UTR_variant,,ENST00000595568,;CPT1C,non_coding_transcript_exon_variant,,ENST00000596701,;CPT1C,non_coding_transcript_exon_variant,,ENST00000599023,;CPT1C,non_coding_transcript_exon_variant,,ENST00000295404,;CPT1C,non_coding_transcript_exon_variant,,ENST00000594431,;CPT1C,downstream_gene_variant,,ENST00000596922,;	uc002ppj.2	c.941C>T	1186/2783	2	2			c.941C>T						19	SNP	c.(940-942)ACG>ATG	26	26			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Broad	carnitine palmitoyltransferase 1C isoform 2			50208532		0.448	ENSG00000169169	3768	g.chr19:50208532C>T	fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity							-49.325005	KEEP	2	7	-1	139	138	2	7	-1	13.467063	139	138	0.030769	1	0	0	0	0	1	0	0	0	--	--		0	T			CPT1C_uc002ppl.3_Missense_Mutation_p.T280M|CPT1C_uc002ppi.2_Missense_Mutation_p.T231M|CPT1C_uc002ppk.2_Missense_Mutation_p.T303M|CPT1C_uc010eng.2_Missense_Mutation_p.T314M|CPT1C_uc010enh.2_Missense_Mutation_p.T314M|CPT1C_uc010ybc.1_Missense_Mutation_p.T185M|CPT1C_uc010eni.1_5'Flank	189	GBM-27-1830-TP	p.T314M	C	TTCAACACCACGCGGATTCCA	NM_152359	NP_689572	50208532	Q8TCG5	CPT1C_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	9	1146	+	T	T		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	Missense_Mutation	314			Cytoplasmic (Potential).			
CPT2	1376		GRCh37	1	53666396	53666396	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000371486.3:c.158C>T	p.Pro53Leu	p.P53L	ENST00000371486	NM_000098.2	53	cCt/cTt	0																																																																																																																																																																																																																																												
CPVL	54504	broad.mit.edu	GRCh37	7	29152433	29152433	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5856-01	TCGA-06-5856-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409850.1:c.175G>A	p.Glu59Lys	p.E59K	ENST00000409850		59	Gaa/Aaa	0			1			T	E/K	uc003szv.2	protein_coding		CCDS5419.1			175/1431									ovary(2)	2	c.(175-177)GAA>AAA			hmmpanther:PTHR11802	serine carboxypeptidase vitellogenic-like				ENSP00000265394		13-Mar									COSM3411959	13-Mar	.		ENST00000265394	Transcript			proteolysis		protein binding|serine-type carboxypeptidase activity	ENSG00000106066	g.chr7:29152433C>T	14399			MODERATE		-0.205	neutral	getma.org/?cm=msa&ty=f&p=CPVL_HUMAN&rb=1&re=63&var=E59K	NA	getma.org/?cm=var&var=hg19,7,29152433,C,T&fts=all	E59K	--	--	1																																		CPVL_uc003szw.2_Missense_Mutation_p.E59K|CPVL_uc003szx.2_Missense_Mutation_p.E59K	1			benign(0.001)	p.E59K	NM_031311	NP_112601		tolerated(1)	1	CPVL_HUMAN	CPVL	HGNC	Q9H3G5	CPVL_HUMAN			Q75MM4_HUMAN,O75225_HUMAN,C9JZ94_HUMAN,C9JVI2_HUMAN,C9JLV0_HUMAN,C9JI22_HUMAN,C9J6L4_HUMAN		3	294	-			UPI0000048F1B	59					SNV	CPVL,missense_variant,p.Glu59Lys,ENST00000409850,;CPVL,missense_variant,p.Glu59Lys,ENST00000265394,NM_031311.3;CPVL,missense_variant,p.Glu59Lys,ENST00000396276,NM_019029.2;CPVL,5_prime_UTR_variant,,ENST00000448959,;CPVL,5_prime_UTR_variant,,ENST00000447426,;CPVL,non_coding_transcript_exon_variant,,ENST00000488891,;	uc003szv.2	c.175G>A	294/2091	1	1			c.175G>A						7	SNP	c.(175-177)GAA>AAA	6	6			ovary(2)	2	Broad	serine carboxypeptidase vitellogenic-like			29152433		0.418	ENSG00000106066	3770	g.chr7:29152433C>T	proteolysis		protein binding|serine-type carboxypeptidase activity							-9.739733	KEEP	2	1	-1	44	34	2	1	-1	6.799462	44	34	0.041096	1	0	0	0	0	1	0	0	0	--	--		0	T			CPVL_uc003szw.2_Missense_Mutation_p.E59K|CPVL_uc003szx.2_Missense_Mutation_p.E59K	101	GBM-06-5856-TP	p.E59K	C	AAACTCAATTCTCTTCCTAGT	NM_031311	NP_112601	29152433	Q9H3G5	CPVL_HUMAN	0			3	294	-	T	T			Missense_Mutation	59						
CPVL	0	broad.mit.edu	GRCh37	7	29160576	29160576	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-16-0846-01	TCGA-16-0846-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265394.5:c.102A>G	p.Pro34=	p.P34=	ENST00000265394	NM_031311.3	34	ccA/ccG	0			1			C	P	uc003szv.2	protein_coding		CCDS5419.1			102/1431									ovary(2)	2	c.(100-102)CCA>CCG			hmmpanther:PTHR11802	serine carboxypeptidase vitellogenic-like				ENSP00000265394		13-Feb									COSM3411960	13-Feb	.		ENST00000265394	Transcript			proteolysis		protein binding|serine-type carboxypeptidase activity	ENSG00000106066	g.chr7:29160576T>C	14399			LOW								--	--	1																																		CPVL_uc003szw.2_Silent_p.P34P|CPVL_uc003szx.2_Silent_p.P34P	1				p.P34P	NM_031311	NP_112601			1	CPVL_HUMAN	CPVL	HGNC	Q9H3G5	CPVL_HUMAN			Q75MM4_HUMAN,O75225_HUMAN,C9JZ94_HUMAN,C9JVI2_HUMAN,C9JLV0_HUMAN,C9JI22_HUMAN,C9J6L4_HUMAN		2	221	-			UPI0000048F1B	34					SNV	CPVL,synonymous_variant,p.=,ENST00000409850,;CPVL,synonymous_variant,p.=,ENST00000265394,NM_031311.3;CPVL,synonymous_variant,p.=,ENST00000396276,NM_019029.2;CPVL,synonymous_variant,p.=,ENST00000455544,;CPVL,synonymous_variant,p.=,ENST00000449801,;CPVL,downstream_gene_variant,,ENST00000437527,;CPVL,non_coding_transcript_exon_variant,,ENST00000488891,;CHN2,upstream_gene_variant,,ENST00000588769,;CHN2,upstream_gene_variant,,ENST00000606897,;CHN2,upstream_gene_variant,,ENST00000582692,;CHN2,upstream_gene_variant,,ENST00000578605,;CHN2,upstream_gene_variant,,ENST00000443025,;	uc003szv.2	c.102A>G	221/2091	4	4			c.102A>G						7	SNP	c.(100-102)CCA>CCG	35	35			ovary(2)	2	Broad	serine carboxypeptidase vitellogenic-like			29160576		0.468	ENSG00000106066	3770	g.chr7:29160576T>C	proteolysis		protein binding|serine-type carboxypeptidase activity							118.025622	KEEP	22	23	-1	41	45	22	23	-1	120.56979	41	45	0.349206	1	0	0	0	0	0	0	1	0	--	--		0	C			CPVL_uc003szw.2_Silent_p.P34P|CPVL_uc003szx.2_Silent_p.P34P	155	GBM-16-0846-TP	p.P34P	T	CTCCCTTAGGTGGCATGGAAA	NM_031311	NP_112601	29160576	Q9H3G5	CPVL_HUMAN	0			2	221	-	C	C			Silent	34						
CPVL	0	broad.mit.edu	GRCh37	7	29134756	29134756	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01	TCGA-32-4210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265394.5:c.406C>T	p.Arg136Cys	p.R136C	ENST00000265394	NM_031311.3	136	Cgt/Tgt	0			1			A	R/C	uc003szv.2	protein_coding		CCDS5419.1			406/1431									ovary(2)	2	c.(406-408)CGT>TGT			Gene3D:3.40.50.1820,Pfam_domain:PF00450,hmmpanther:PTHR11802,Superfamily_domains:SSF53474	serine carboxypeptidase vitellogenic-like				ENSP00000265394		13-May	8.24E-06					1.50E-05			rs750931528,COSM3411958	13-May	.		ENST00000265394	Transcript			proteolysis		protein binding|serine-type carboxypeptidase activity	ENSG00000106066	g.chr7:29134756G>A	14399			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=CPVL_HUMAN&rb=64&re=468&var=R136C	getma.org/pdb.php?prot=CPVL_HUMAN&from=64&to=468&var=R136C	getma.org/?cm=var&var=hg19,7,29134756,G,A&fts=all	R136C	--	--	1																																		CPVL_uc003szw.2_Missense_Mutation_p.R136C|CPVL_uc003szx.2_Missense_Mutation_p.R136C	0,1			benign(0.01)	p.R136C	NM_031311	NP_112601		tolerated(0.07)	0,1	CPVL_HUMAN	CPVL	HGNC	Q9H3G5	CPVL_HUMAN			Q75MM4_HUMAN,O75225_HUMAN,C9JZ94_HUMAN,C9JVI2_HUMAN,C9JLV0_HUMAN,C9JI22_HUMAN,C9J6L4_HUMAN		5	525	-			UPI0000048F1B	136					SNV	CPVL,missense_variant,p.Arg136Cys,ENST00000409850,;CPVL,missense_variant,p.Arg136Cys,ENST00000265394,NM_031311.3;CPVL,missense_variant,p.Arg136Cys,ENST00000396276,NM_019029.2;CPVL,missense_variant,p.Arg66Cys,ENST00000448959,;CPVL,missense_variant,p.Arg66Cys,ENST00000447426,;CPVL,missense_variant,p.Arg20Cys,ENST00000458405,;CPVL,downstream_gene_variant,,ENST00000488891,;	uc003szv.2	c.406C>T	525/2091	1	1			c.406C>T						7	SNP	c.(406-408)CGT>TGT	60	60			ovary(2)	2	Broad	serine carboxypeptidase vitellogenic-like			29134756		0.547	ENSG00000106066	3770	g.chr7:29134756G>A	proteolysis		protein binding|serine-type carboxypeptidase activity							10.328709	KEEP	9	10	-1	88	93	9	10	-1	39.091872	88	93	0.1	1	0	0	0	0	1	0	0	0	--	--		0	A			CPVL_uc003szw.2_Missense_Mutation_p.R136C|CPVL_uc003szx.2_Missense_Mutation_p.R136C	245	GBM-32-4210-TP	p.R136C	G	TCTCTGTCACGCACTGTGAAA	NM_031311	NP_112601	29134756	Q9H3G5	CPVL_HUMAN	0			5	525	-	A	A			Missense_Mutation	136						
CPXCR1	53336	broad.mit.edu	GRCh37	X	88009244	88009244	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0173-01	TCGA-06-0173-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276127.4:c.829T>C	p.Phe277Leu	p.F277L	ENST00000276127	NM_033048.5	277	Ttt/Ctt	0			1			C	F/L	uc004efd.3	protein_coding	YES	CCDS14458.1			829/906									ovary(3)	3	c.(829-831)TTT>CTT			PROSITE_profiles:PS50157	CPX chromosome region, candidate 1				ENSP00000276127		3-Mar									COSM2150374	3-Mar	.		ENST00000276127	Transcript				intracellular	zinc ion binding	ENSG00000147183	g.chrX:88009244T>C	2332			MODERATE		-0.145	neutral	getma.org/?cm=msa&ty=f&p=CPXCR_HUMAN&rb=1&re=299&var=F277L	NA	getma.org/?cm=var&var=hg19,X,88009244,T,C&fts=all	F277L	--	--	1																																		CPXCR1_uc004efc.3_Missense_Mutation_p.F277L	1	1		possibly_damaging(0.682)	p.F277L	NM_033048	NP_149037		tolerated(1)	1	CPXCR_HUMAN	CPXCR1	HGNC	Q8N123	CPXCR_HUMAN					3	1088	+			UPI000007369F	277					SNV	CPXCR1,missense_variant,p.Phe277Leu,ENST00000276127,NM_033048.5;CPXCR1,missense_variant,p.Phe277Leu,ENST00000373111,NM_001184771.1;	uc004efd.3	c.829T>C	1088/1630	3	3			c.829T>C						23	SNP	c.(829-831)TTT>CTT	60	60			ovary(3)	3	Broad	CPX chromosome region, candidate 1			88009244		0.299	ENSG00000147183	3771	g.chrX:88009244T>C		intracellular	zinc ion binding							96.851618	KEEP	17	14	-1	32	34	17	14	-1	98.989074	32	34	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	C			CPXCR1_uc004efc.3_Missense_Mutation_p.F277L	36	GBM-06-0173-TP	p.F277L	T	TTGGAAATACTTTTGTCCCAT	NM_033048	NP_149037	88009244	Q8N123	CPXCR_HUMAN	0			3	1088	+	C	C			Missense_Mutation	277						
CPXM1	0	broad.mit.edu	GRCh37	20	2776322	2776322	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4210-01	TCGA-32-4210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380605.2:c.1643G>A	p.Arg548His	p.R548H	ENST00000380605	NM_001184699.1	548	cGc/cAc	0			1			T	R/H	uc002wgu.2	protein_coding	YES	CCDS13033.1			1643/2205									ovary(2)|skin(2)	4	c.(1642-1644)CGC>CAC			hmmpanther:PTHR11532,hmmpanther:PTHR11532:SF43,Gene3D:3.40.630.10,Pfam_domain:PF00246,SMART_domains:SM00631,Superfamily_domains:SSF53187	carboxypeptidase X, member 1 precursor				ENSP00000369979		14-Nov									COSM2887968	14-Nov	.		ENST00000380605	Transcript			cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	ENSG00000088882	g.chr20:2776322C>T	15771			MODERATE		1.315	low	getma.org/?cm=msa&ty=f&p=CPXM1_HUMAN&rb=305&re=613&var=R548H	getma.org/pdb.php?prot=CPXM1_HUMAN&from=305&to=613&var=R548H	getma.org/?cm=var&var=hg19,20,2776322,C,T&fts=all	R548H	--	--	1																																		CPXM1_uc010gas.2_Intron	1	1		possibly_damaging(0.679)	p.R548H	NM_019609	NP_062555		deleterious(0.04)	1	CPXM1_HUMAN	CPXM1	HGNC	Q96SM3	CPXM1_HUMAN			Q8N2F1_HUMAN,B4DZY4_HUMAN		11	1707	-			UPI0000039DD0	548					SNV	CPXM1,missense_variant,p.Arg548His,ENST00000380605,NM_001184699.1,NM_019609.4;	uc002wgu.2	c.1643G>A	1708/2391	1	1			c.1643G>A						20	SNP	c.(1642-1644)CGC>CAC	6	6			ovary(2)|skin(2)	4	Broad	carboxypeptidase X, member 1 precursor			2776322		0.622	ENSG00000088882	3772	g.chr20:2776322C>T	cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding							48.204351	KEEP	13	11	-1	33	49	13	11	-1	52.079556	33	49	0.265823	1	0	0	0	0	1	0	0	0	--	--		0	T			CPXM1_uc010gas.2_Intron	245	GBM-32-4210-TP	p.R548H	C	GCAGGGTCGGCGGCTGGTGTC	NM_019609	NP_062555	2776322	Q96SM3	CPXM1_HUMAN	0			11	1707	-	T	T			Missense_Mutation	548						
CPXM2	119587	broad.mit.edu	GRCh37	10	125506288	125506288	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000241305.3:c.2263C>T	p.Arg755Cys	p.R755C	ENST00000241305	NM_198148.2	755	Cgt/Tgt	0			1			A	R/C	uc001lhk.1	protein_coding	YES	CCDS7637.1			2263/2271									ovary(2)	2	c.(2263-2265)CGT>TGT			hmmpanther:PTHR11532,hmmpanther:PTHR11532:SF45,Low_complexity_(Seg):seg	carboxypeptidase X (M14 family), member 2				ENSP00000241305		14/14	8.24E-06			0.000116					rs756593635,COSM2021054	14/14	.		ENST00000241305	Transcript			cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	ENSG00000121898	g.chr10:125506288G>A	26977			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=CPXM2_HUMAN&rb=720&re=756&var=R755C	NA	getma.org/?cm=var&var=hg19,10,125506288,G,A&fts=all	R755C	--	--	1																																		CPXM2_uc001lhj.2_Intron	0,1	1		unknown(0)	p.R755C	NM_198148	NP_937791		deleterious_low_confidence(0.01)	0,1	CPXM2_HUMAN	CPXM2	HGNC	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)			14	2588	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	UPI00001AE6BE	755					SNV	CPXM2,missense_variant,p.Arg755Cys,ENST00000241305,NM_198148.2;CPXM2,intron_variant,,ENST00000368854,;	uc001lhk.1	c.2263C>T	2418/3554	2	2			c.2263C>T						10	SNP	c.(2263-2265)CGT>TGT	25	25			ovary(2)	2	Broad	carboxypeptidase X (M14 family), member 2			125506288		0.577	ENSG00000121898	3773	g.chr10:125506288G>A	cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding							264.633162	KEEP	43	48	-1	19	12	43	48	-1	271.102968	19	12	0.757009	1	0	0	0	0	1	0	0	0	--	--		0	A			CPXM2_uc001lhj.2_Intron	102	GBM-06-5858-TP	p.R755C	G	GGTCACCCACGCTGTCGTCTC	NM_198148	NP_937791	125506288	Q8N436	CPXM2_HUMAN	0		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	14	2588	-	A	A		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	Missense_Mutation	755						
CPXM2	119587	broad.mit.edu	GRCh37	10	125622179	125622179	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs146535848		TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000241305.3:c.464C>T	p.Thr155Met	p.T155M	ENST00000241305	NM_198148.2	155	aCg/aTg	0	A:0.0002	A:0.0015	1	A:0		A	T/M	uc001lhk.1	protein_coding	YES	CCDS7637.1			464/2271									ovary(2)	2	c.(463-465)ACG>ATG			Superfamily_domains:SSF49785,SMART_domains:SM00231,Gene3D:2.60.120.260,hmmpanther:PTHR11532,hmmpanther:PTHR11532:SF45,PROSITE_profiles:PS50022	carboxypeptidase X (M14 family), member 2		A:0	A:0.0002	ENSP00000241305	A:0	14-Mar	0.000173	0.000288	8.64E-05	0.000693		0.000135		0.000121	rs146535848,COSM361525	14-Mar	common_variant		ENST00000241305	Transcript		A:0.0004	cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	ENSG00000121898	g.chr10:125622179G>A	26977			MODERATE		2.775	medium	getma.org/?cm=msa&ty=f&p=CPXM2_HUMAN&rb=150&re=290&var=T155M	getma.org/pdb.php?prot=CPXM2_HUMAN&from=150&to=290&var=T155M	getma.org/?cm=var&var=hg19,10,125622179,G,A&fts=all	T155M	--	--	1																																		CPXM2_uc001lhj.2_RNA	0,1	1		probably_damaging(0.991)	p.T155M	NM_198148	NP_937791	A:0	deleterious(0)	0,1	CPXM2_HUMAN	CPXM2	HGNC	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)			3	789	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	UPI00001AE6BE	155			F5/8 type C.		SNV	CPXM2,missense_variant,p.Thr155Met,ENST00000241305,NM_198148.2;CPXM2,non_coding_transcript_exon_variant,,ENST00000368854,;	uc001lhk.1	c.464C>T	619/3554	1	1			c.464C>T						10	SNP	c.(463-465)ACG>ATG	56	56			ovary(2)	2	Broad	carboxypeptidase X (M14 family), member 2			125622179		0.507	ENSG00000121898	3773	g.chr10:125622179G>A	cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding							167.614702	KEEP	34	31	-1	14	12	34	31	-1	170.362127	14	12	0.710145	1	0	0	0	0	1	0	0	0	--	--		0	A			CPXM2_uc001lhj.2_RNA	102	GBM-06-5858-TP	p.T155M	G	GCGCTTCACCGTGGAGGCATG	NM_198148	NP_937791	125622179	Q8N436	CPXM2_HUMAN	0		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	3	789	-	A	A		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	Missense_Mutation	155			F5/8 type C.			
CPXM2	0	broad.mit.edu	GRCh37	10	125506512	125506512	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01	TCGA-27-2527-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000241305.3:c.2039G>A	p.Arg680His	p.R680H	ENST00000241305	NM_198148.2	680	cGc/cAc	0			1			T	R/H	uc001lhk.1	protein_coding	YES	CCDS7637.1			2039/2271									ovary(2)	2	c.(2038-2040)CGC>CAC			Superfamily_domains:SSF49464,SMART_domains:SM00631,Pfam_domain:PF13620,Gene3D:2.60.40.1120,hmmpanther:PTHR11532,hmmpanther:PTHR11532:SF45	carboxypeptidase X (M14 family), member 2				ENSP00000241305		14/14	8.24E-06			0.000116					rs780028739,COSM3396970	14/14	.		ENST00000241305	Transcript			cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	ENSG00000121898	g.chr10:125506512C>T	26977			MODERATE		3.42	medium	getma.org/?cm=msa&ty=f&p=CPXM2_HUMAN&rb=643&re=719&var=R680H	getma.org/pdb.php?prot=CPXM2_HUMAN&from=643&to=719&var=R680H	getma.org/?cm=var&var=hg19,10,125506512,C,T&fts=all	R680H	--	--	1																																		CPXM2_uc001lhj.2_Intron	0,1	1		probably_damaging(1)	p.R680H	NM_198148	NP_937791		deleterious(0)	0,1	CPXM2_HUMAN	CPXM2	HGNC	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)			14	2364	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	UPI00001AE6BE	680					SNV	CPXM2,missense_variant,p.Arg680His,ENST00000241305,NM_198148.2;CPXM2,intron_variant,,ENST00000368854,;	uc001lhk.1	c.2039G>A	2194/3554	2	2			c.2039G>A						10	SNP	c.(2038-2040)CGC>CAC	42	42			ovary(2)	2	Broad	carboxypeptidase X (M14 family), member 2			125506512		0.547	ENSG00000121898	3773	g.chr10:125506512C>T	cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding							128.968219	KEEP	39	29	-1	131	160	39	29	-1	156.11991	131	160	0.192182	1	0	0	0	0	1	0	0	0	--	--		0	T			CPXM2_uc001lhj.2_Intron	204	GBM-27-2527-TP	p.R680H	C	GTTCAGGAGGCGCCAGTAATC	NM_198148	NP_937791	125506512	Q8N436	CPXM2_HUMAN	0		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	14	2364	-	T	T		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	Missense_Mutation	680						
CPZ	8532	broad.mit.edu	GRCh37	4	8605853	8605853	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0210-01	TCGA-06-0210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360986.4:c.647G>A	p.Ser216Asn	p.S216N	ENST00000360986	NM_001014447.2	216	aGc/aAc	0			1			A	S/N	uc003glm.2	protein_coding	YES	CCDS33953.1			647/1959									ovary(2)|pancreas(1)	3	c.(646-648)AGC>AAC			Prints_domain:PR00765,Superfamily_domains:SSF53187,Gene3D:3.40.630.10,Pfam_domain:PF00246,hmmpanther:PTHR11532:SF4,hmmpanther:PTHR11532	carboxypeptidase Z isoform 1				ENSP00000354255		11-Apr									COSM3409595	11-Apr	.		ENST00000360986	Transcript			proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	ENSG00000109625	g.chr4:8605853G>A	2333			MODERATE		3.5	medium	getma.org/?cm=msa&ty=f&p=CBPZ_HUMAN&rb=193&re=494&var=S216N	getma.org/pdb.php?prot=CBPZ_HUMAN&from=193&to=494&var=S216N	getma.org/?cm=var&var=hg19,4,8605853,G,A&fts=all	S216N	--	--	1																																		CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Missense_Mutation_p.S79N|CPZ_uc003glo.2_Missense_Mutation_p.S205N|CPZ_uc003glp.2_RNA	1	1		probably_damaging(0.986)	p.S216N	NM_001014447	NP_001014447		deleterious(0)	1	CBPZ_HUMAN	CPZ	HGNC	Q66K79	CBPZ_HUMAN					4	773	+			UPI000020BCC5	216					SNV	CPZ,missense_variant,p.Ser79Asn,ENST00000382480,NM_001014448.2;CPZ,missense_variant,p.Ser216Asn,ENST00000360986,NM_001014447.2;CPZ,missense_variant,p.Ser205Asn,ENST00000315782,NM_003652.3;CPZ,5_prime_UTR_variant,,ENST00000429646,;CPZ,downstream_gene_variant,,ENST00000506287,;CPZ,downstream_gene_variant,,ENST00000504070,;GPR78,3_prime_UTR_variant,,ENST00000514302,;CPZ,3_prime_UTR_variant,,ENST00000515606,;GPR78,non_coding_transcript_exon_variant,,ENST00000513120,;CPZ,downstream_gene_variant,,ENST00000514602,;CPZ,downstream_gene_variant,,ENST00000514875,;	uc003glm.2	c.647G>A	821/2267	2	2			c.647G>A						4	SNP	c.(646-648)AGC>AAC	48	48			ovary(2)|pancreas(1)	3	Broad	carboxypeptidase Z isoform 1			8605853		0.687	ENSG00000109625	3774	g.chr4:8605853G>A	proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding							14.942802	KEEP	2	4	-1	10	9	2	4	-1	15.267881	10	9	0.352941	1	0	0	0	0	1	0	0	0	--	--		0	A			CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Missense_Mutation_p.S79N|CPZ_uc003glo.2_Missense_Mutation_p.S205N|CPZ_uc003glp.2_RNA	47	GBM-06-0210-TP	p.S216N	G	ATCGGGCGCAGCTTCGACGGC	NM_001014447	NP_001014447	8605853	Q66K79	CBPZ_HUMAN	0			4	773	+	A	A			Missense_Mutation	216						
CPZ	8532	broad.mit.edu	GRCh37	4	8605806	8605806	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0645-01	TCGA-06-0645-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360986.4:c.600G>A	p.Thr200=	p.T200=	ENST00000360986	NM_001014447.2	200	acG/acA	0			1			A	T	uc003glm.2	protein_coding	YES	CCDS33953.1			600/1959									ovary(2)|pancreas(1)	3	c.(598-600)ACG>ACA			Superfamily_domains:SSF53187,Gene3D:3.40.630.10,Pfam_domain:PF00246,hmmpanther:PTHR11532:SF4,hmmpanther:PTHR11532	carboxypeptidase Z isoform 1				ENSP00000354255		11-Apr	8.28E-06					1.85E-05			rs748472126,COSM3409594	11-Apr	.		ENST00000360986	Transcript			proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	ENSG00000109625	g.chr4:8605806G>A	2333			LOW								--	--	1																																		CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Silent_p.T63T|CPZ_uc003glo.2_Silent_p.T189T|CPZ_uc003glp.2_RNA	0,1	1			p.T200T	NM_001014447	NP_001014447			0,1	CBPZ_HUMAN	CPZ	HGNC	Q66K79	CBPZ_HUMAN					4	726	+			UPI000020BCC5	200	T -> M (in Ref. 4; BC006393).				SNV	CPZ,synonymous_variant,p.=,ENST00000382480,NM_001014448.2;CPZ,synonymous_variant,p.=,ENST00000360986,NM_001014447.2;CPZ,synonymous_variant,p.=,ENST00000315782,NM_003652.3;CPZ,5_prime_UTR_variant,,ENST00000429646,;CPZ,downstream_gene_variant,,ENST00000506287,;CPZ,downstream_gene_variant,,ENST00000504070,;GPR78,3_prime_UTR_variant,,ENST00000514302,;CPZ,3_prime_UTR_variant,,ENST00000515606,;GPR78,non_coding_transcript_exon_variant,,ENST00000513120,;CPZ,downstream_gene_variant,,ENST00000514602,;CPZ,downstream_gene_variant,,ENST00000514875,;	uc003glm.2	c.600G>A	774/2267	2	2			c.600G>A						4	SNP	c.(598-600)ACG>ACA	32	32			ovary(2)|pancreas(1)	3	Broad	carboxypeptidase Z isoform 1			8605806		0.701	ENSG00000109625	3774	g.chr4:8605806G>A	proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding							8.185307	KEEP	4	5	-1	14	16	4	5	-1	10.713169	14	16	0.166667	1	0	0	0	0	0	0	1	0	--	--		0	A			CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Silent_p.T63T|CPZ_uc003glo.2_Silent_p.T189T|CPZ_uc003glp.2_RNA	59	GBM-06-0645-TP	p.T200T	G	TGAGGCGGACGGCCTCCCGCT	NM_001014447	NP_001014447	8605806	Q66K79	CBPZ_HUMAN	0			4	726	+	A	A			Silent	200	T -> M (in Ref. 4; BC006393).					
CPZ	8532	broad.mit.edu	GRCh37	4	8621243	8621243	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs143690050		TCGA-06-5414-01	TCGA-06-5414-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360986.4:c.1858C>T	p.Arg620Trp	p.R620W	ENST00000360986	NM_001014447.2	620	Cgg/Tgg	0	T:0.0002		1			T	R/W	uc003glm.2	protein_coding	YES	CCDS33953.1			1858/1959									ovary(2)|pancreas(1)	3	c.(1858-1860)CGG>TGG			hmmpanther:PTHR11532:SF4,hmmpanther:PTHR11532	carboxypeptidase Z isoform 1			T:0.0002	ENSP00000354255		11-Nov	8.26E-06	0.000103							rs143690050,COSM1619177	11-Nov	.		ENST00000360986	Transcript			proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	ENSG00000109625	g.chr4:8621243C>T	2333			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=CBPZ_HUMAN&rb=583&re=652&var=R620W	NA	getma.org/?cm=var&var=hg19,4,8621243,C,T&fts=all	R620W	--	--	1																																		CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Missense_Mutation_p.R483W|CPZ_uc003glo.2_Missense_Mutation_p.R609W|CPZ_uc003glp.2_RNA	0,1	1		benign(0.394)	p.R620W	NM_001014447	NP_001014447		deleterious(0.03)	0,1	CBPZ_HUMAN	CPZ	HGNC	Q66K79	CBPZ_HUMAN					11	1984	+			UPI000020BCC5	620					SNV	CPZ,missense_variant,p.Arg228Trp,ENST00000429646,;CPZ,missense_variant,p.Arg483Trp,ENST00000382480,NM_001014448.2;CPZ,missense_variant,p.Arg620Trp,ENST00000360986,NM_001014447.2;CPZ,missense_variant,p.Arg609Trp,ENST00000315782,NM_003652.3;GPR78,3_prime_UTR_variant,,ENST00000514302,;CPZ,3_prime_UTR_variant,,ENST00000515606,;GPR78,non_coding_transcript_exon_variant,,ENST00000513120,;CPZ,downstream_gene_variant,,ENST00000513486,;	uc003glm.2	c.1858C>T	2032/2267	2	2			c.1858C>T						4	SNP	c.(1858-1860)CGG>TGG	29	29			ovary(2)|pancreas(1)	3	Broad	carboxypeptidase Z isoform 1			8621243		0.667	ENSG00000109625	3774	g.chr4:8621243C>T	proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding							56.215636	KEEP	12	11	-1	17	23	12	11	-1	57.04248	17	23	0.365385	1	0	0	0	0	1	0	0	0	--	--		0	T			CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Missense_Mutation_p.R483W|CPZ_uc003glo.2_Missense_Mutation_p.R609W|CPZ_uc003glp.2_RNA	97	GBM-06-5414-TP	p.R620W	C	CGACCCGCTCCGGGCGCGCAG	NM_001014447	NP_001014447	8621243	Q66K79	CBPZ_HUMAN	0			11	1984	+	T	T			Missense_Mutation	620						
CPZ	0	broad.mit.edu	GRCh37	4	8605776	8605776	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-1597-01	TCGA-12-1597-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360986.4:c.570C>T	p.Tyr190=	p.Y190=	ENST00000360986	NM_001014447.2	190	taC/taT	0		T:0	1	T:0		T	Y	uc003glm.2	protein_coding	YES	CCDS33953.1			570/1959									ovary(2)|pancreas(1)	3	c.(568-570)TAC>TAT			Superfamily_domains:SSF53187,Gene3D:3.40.630.10,hmmpanther:PTHR11532:SF4,hmmpanther:PTHR11532	carboxypeptidase Z isoform 1		T:0		ENSP00000354255	T:0	11-Apr	9.92E-05					0.000115		0.00032	rs537441827,COSM3409593	11-Apr	.		ENST00000360986	Transcript		T:0.0002	proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	ENSG00000109625	g.chr4:8605776C>T	2333			LOW								--	--	1																																		CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Silent_p.Y53Y|CPZ_uc003glo.2_Silent_p.Y179Y|CPZ_uc003glp.2_RNA	0,1	1			p.Y190Y	NM_001014447	NP_001014447	T:0.001		0,1	CBPZ_HUMAN	CPZ	HGNC	Q66K79	CBPZ_HUMAN					4	696	+			UPI000020BCC5	190					SNV	CPZ,synonymous_variant,p.=,ENST00000382480,NM_001014448.2;CPZ,synonymous_variant,p.=,ENST00000360986,NM_001014447.2;CPZ,synonymous_variant,p.=,ENST00000315782,NM_003652.3;CPZ,5_prime_UTR_variant,,ENST00000429646,;CPZ,downstream_gene_variant,,ENST00000506287,;CPZ,downstream_gene_variant,,ENST00000504070,;GPR78,3_prime_UTR_variant,,ENST00000514302,;CPZ,3_prime_UTR_variant,,ENST00000515606,;GPR78,non_coding_transcript_exon_variant,,ENST00000513120,;CPZ,downstream_gene_variant,,ENST00000514602,;CPZ,downstream_gene_variant,,ENST00000514875,;	uc003glm.2	c.570C>T	744/2267	1	1			c.570C>T						4	SNP	c.(568-570)TAC>TAT	15	15			ovary(2)|pancreas(1)	3	Broad	carboxypeptidase Z isoform 1			8605776		0.706	ENSG00000109625	3774	g.chr4:8605776C>T	proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding							38.900354	KEEP	12	7	-1	11	10	12	7	-1	38.900354	11	10	0.5	1	0	0	0	0	0	0	1	0	--	--		0	T			CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Silent_p.Y53Y|CPZ_uc003glo.2_Silent_p.Y179Y|CPZ_uc003glp.2_RNA	124	GBM-12-1597-TP	p.Y190Y	C	ACCACTCCTACGCCCAGATGG	NM_001014447	NP_001014447	8605776	Q66K79	CBPZ_HUMAN	0			4	696	+	T	T			Silent	190						
CR1L	1379	broad.mit.edu	GRCh37	1	207868047	207868047	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0129-01	TCGA-06-0129-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000508064.2:c.813G>T	p.Lys271Asn	p.K271N	ENST00000508064	NM_175710.1	271	aaG/aaT	0			1			T	K/N	uc001hga.3	protein_coding	YES	CCDS44310.1			813/1710										0	c.(811-813)AAG>AAT			Superfamily_domains:SSF57535,SMART_domains:SM00032,Pfam_domain:PF00084,Gene3D:2.10.70.10,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF322,PROSITE_profiles:PS50923	complement component (3b/4b) receptor 1-like				ENSP00000421736		12-May									COSM3400254,COSM3400253	12-May	.		ENST00000508064	Transcript				cytoplasm|extracellular region|membrane		ENSG00000197721	g.chr1:207868047G>T	2335			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=CR1L_HUMAN&rb=230&re=285&var=K271N	getma.org/pdb.php?prot=CR1L_HUMAN&from=230&to=285&var=K271N	getma.org/?cm=var&var=hg19,1,207868047,G,T&fts=all	K271N	2.48	medium	1																																		CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA	1,1	1		benign(0.041)	p.K271N	NM_175710	NP_783641		tolerated(0.09)	1,1	CR1L_HUMAN	CR1L	HGNC	Q2VPA4	CR1L_HUMAN					5	934	+			UPI0000DD792A	271			Sushi 4.		SNV	CR1L,missense_variant,p.Lys271Asn,ENST00000508064,NM_175710.1;CR1L,intron_variant,,ENST00000530905,;CR1L,missense_variant,p.Lys215Asn,ENST00000294997,;	uc001hga.3	c.813G>T	873/1788	2	2			c.813G>T						1	SNP	c.(811-813)AAG>AAT	39	39				0	Broad	complement component (3b/4b) receptor 1-like			207868047		0.507	ENSG00000197721	3776	g.chr1:207868047G>T		cytoplasm|extracellular region|membrane								57.839445	KEEP	19	13	0.59375	89	108	19	13	0.59375	85.380692	89	108	0.142857	1	0	0	0	0	1	0	0	0	2.48	medium		0	T			CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA	15	GBM-06-0129-TP	p.K271N	G	CCCATGTGAAGTGCCAGGCCC	NM_175710	NP_783641	207868047	Q2VPA4	CR1L_HUMAN	0			5	934	+	T	T			Missense_Mutation	271			Sushi 4.			
CR2	1380	broad.mit.edu	GRCh37	1	207647215	207647215	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01	TCGA-06-0158-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367057.3:c.2225C>T	p.Thr742Met	p.T742M	ENST00000367057	NM_001006658.2	742	aCg/aTg	0			1			T	T/M	uc001hfw.2	protein_coding		CCDS1478.1			2048/3102									upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8	c.(2047-2049)ACG>ATG			PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF330,hmmpanther:PTHR19325,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535	complement component (3d/Epstein Barr virus)				ENSP00000356025		19-Nov	3.29E-05			0.000116		3.00E-05		6.06E-05	rs766120010,COSM2150141	19-Nov	.		ENST00000367058	Transcript	1		complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	ENSG00000117322	g.chr1:207647215C>T	2336			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=CR2_HUMAN&rb=672&re=714&var=T683M	getma.org/pdb.php?prot=CR2_HUMAN&from=672&to=714&var=T683M	getma.org/?cm=var&var=hg19,1,207647215,C,T&fts=all	T683M	--	--	1																																		CR2_uc001hfv.2_Missense_Mutation_p.T742M|CR2_uc009xch.2_Missense_Mutation_p.T683M	0,1			benign(0.218)	p.T683M	NM_001877	NP_001868		tolerated(0.22)	0,1	CR2_HUMAN	CR2	HGNC	P20023	CR2_HUMAN					11	2142	+			UPI000013D4F7	683			Sushi 11.|Extracellular (Potential).		SNV	CR2,missense_variant,p.Thr742Met,ENST00000367057,NM_001006658.2;CR2,missense_variant,p.Thr683Met,ENST00000367058,NM_001877.4;CR2,missense_variant,p.Thr683Met,ENST00000367059,;CR2,missense_variant,p.Thr656Met,ENST00000458541,;CR2,downstream_gene_variant,,ENST00000485707,;CR2,downstream_gene_variant,,ENST00000475194,;	uc001hfw.2	c.2048C>T	2237/4063	1	1			c.2048C>T						1	SNP	c.(2047-2049)ACG>ATG	4	4			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8	Broad	complement component (3d/Epstein Barr virus)			207647215		0.438	ENSG00000117322	3777	g.chr1:207647215C>T	complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity							185.788621	KEEP	32	36	-1	65	52	32	36	-1	187.808573	65	52	0.381818	1	0	0	0	0	1	0	0	0	--	--		0	T			CR2_uc001hfv.2_Missense_Mutation_p.T742M|CR2_uc009xch.2_Missense_Mutation_p.T683M	29	GBM-06-0158-TP	p.T683M	C	CTAGTTAATACGTCCTGCCAA	NM_001877	NP_001868	207647215	P20023	CR2_HUMAN	0			11	2142	+	T	T			Missense_Mutation	683			Sushi 11.|Extracellular (Potential).			
CR2	0	broad.mit.edu	GRCh37	1	207644110	207644110	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-12-3649-01	TCGA-12-3649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367058.3:c.1251C>A	p.Leu417=	p.L417=	ENST00000367058	NM_001877.4	417	ctC/ctA	0			1			A	L	uc001hfw.2	protein_coding		CCDS1478.1			1251/3102									upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8	c.(1249-1251)CTC>CTA			PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF330,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535,Superfamily_domains:SSF57535	complement component (3d/Epstein Barr virus)				ENSP00000356025		19-Jul									COSM3400250	19-Jul	.		ENST00000367058	Transcript	1		complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	ENSG00000117322	g.chr1:207644110C>A	2336			LOW								--	--	1																																		CR2_uc001hfv.2_Silent_p.L417L|CR2_uc009xch.2_Silent_p.L417L|CR2_uc009xci.1_5'Flank	1				p.L417L	NM_001877	NP_001868			1	CR2_HUMAN	CR2	HGNC	P20023	CR2_HUMAN					7	1345	+			UPI000013D4F7	417			Sushi 7.|Extracellular (Potential).		SNV	CR2,synonymous_variant,p.=,ENST00000367057,NM_001006658.2;CR2,synonymous_variant,p.=,ENST00000367058,NM_001877.4;CR2,synonymous_variant,p.=,ENST00000367059,;CR2,synonymous_variant,p.=,ENST00000458541,;CR2,downstream_gene_variant,,ENST00000485707,;CR2,downstream_gene_variant,,ENST00000479186,;CR2,upstream_gene_variant,,ENST00000475194,;	uc001hfw.2	c.1251C>A	1440/4063	2	2			c.1251C>A						1	SNP	c.(1249-1251)CTC>CTA	45	45			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8	Broad	complement component (3d/Epstein Barr virus)			207644110		0.418	ENSG00000117322	3777	g.chr1:207644110C>A	complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity							72.953125	KEEP	18	12	0.4	37	41	18	12	0.4	76.995366	37	41	0.285714	1	0	0	0	0	0	0	1	0	--	--		0	A			CR2_uc001hfv.2_Silent_p.L417L|CR2_uc009xch.2_Silent_p.L417L|CR2_uc009xci.1_5'Flank	125	GBM-12-3649-TP	p.L417L	C	CTAACATCCTCAATGGGCAAA	NM_001877	NP_001868	207644110	P20023	CR2_HUMAN	0			7	1345	+	A	A			Silent	417			Sushi 7.|Extracellular (Potential).			
CR2	0	broad.mit.edu	GRCh37	1	207649599	207649599	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01	TCGA-27-1830-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367058.3:c.2560C>T	p.Pro854Ser	p.P854S	ENST00000367058	NM_001877.4	854	Ccg/Tcg	0			1			T	P/S	uc001hfw.2	protein_coding		CCDS1478.1			2560/3102									upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8	c.(2560-2562)CCG>TCG			PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF330,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	complement component (3d/Epstein Barr virus)				ENSP00000356025		14/19									COSM3400252	14/19	.		ENST00000367058	Transcript	1		complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	ENSG00000117322	g.chr1:207649599C>T	2336			MODERATE		3.94	high	getma.org/?cm=msa&ty=f&p=CR2_HUMAN&rb=851&re=907&var=P854S	getma.org/pdb.php?prot=CR2_HUMAN&from=851&to=907&var=P854S	getma.org/?cm=var&var=hg19,1,207649599,C,T&fts=all	P854S	--	--	1																																		CR2_uc001hfv.2_Missense_Mutation_p.P913S|CR2_uc009xch.2_Intron	1			probably_damaging(0.946)	p.P854S	NM_001877	NP_001868		deleterious(0.01)	1	CR2_HUMAN	CR2	HGNC	P20023	CR2_HUMAN					14	2654	+			UPI000013D4F7	854			Sushi 14.|Extracellular (Potential).		SNV	CR2,missense_variant,p.Pro913Ser,ENST00000367057,NM_001006658.2;CR2,missense_variant,p.Pro854Ser,ENST00000367058,NM_001877.4;CR2,missense_variant,p.Pro827Ser,ENST00000458541,;CR2,intron_variant,,ENST00000367059,;CR2,downstream_gene_variant,,ENST00000475194,;	uc001hfw.2	c.2560C>T	2749/4063	2	2			c.2560C>T						1	SNP	c.(2560-2562)CCG>TCG	28	28			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8	Broad	complement component (3d/Epstein Barr virus)			207649599		0.493	ENSG00000117322	3777	g.chr1:207649599C>T	complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity							98.609159	KEEP	20	25	-1	61	52	20	25	-1	105.642595	61	52	0.264286	1	0	0	0	0	1	0	0	0	--	--		0	T			CR2_uc001hfv.2_Missense_Mutation_p.P913S|CR2_uc009xch.2_Intron	189	GBM-27-1830-TP	p.P854S	C	GTGTCCACCTCCGCCTAAGAC	NM_001877	NP_001868	207649599	P20023	CR2_HUMAN	0			14	2654	+	T	T			Missense_Mutation	854			Sushi 14.|Extracellular (Potential).			
CR2	0	broad.mit.edu	GRCh37	1	207643227	207643227	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-41-3915-01	TCGA-41-3915-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367058.3:c.1005G>A	p.Trp335Ter	p.W335*	ENST00000367058	NM_001877.4	335	tgG/tgA	0			1			A	W/*	uc001hfw.2	protein_coding		CCDS1478.1			1005/3102									upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8	c.(1003-1005)TGG>TGA			PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF330,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	complement component (3d/Epstein Barr virus)				ENSP00000356025		19-Jun									COSM230471	19-Jun	.		ENST00000367058	Transcript	1		complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	ENSG00000117322	g.chr1:207643227G>A	2336			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,207643227,G,A&fts=all	W335*	--	--	1																																		CR2_uc001hfv.2_Nonsense_Mutation_p.W335*|CR2_uc009xch.2_Nonsense_Mutation_p.W335*|CR2_uc009xci.1_5'Flank	1				p.W335*	NM_001877	NP_001868			1	CR2_HUMAN	CR2	HGNC	P20023	CR2_HUMAN					6	1099	+			UPI000013D4F7	335			Sushi 5.|Extracellular (Potential).		SNV	CR2,stop_gained,p.Trp335Ter,ENST00000367057,NM_001006658.2;CR2,stop_gained,p.Trp335Ter,ENST00000367058,NM_001877.4;CR2,stop_gained,p.Trp335Ter,ENST00000367059,;CR2,stop_gained,p.Trp335Ter,ENST00000458541,;CR2,non_coding_transcript_exon_variant,,ENST00000485707,;CR2,downstream_gene_variant,,ENST00000479186,;CR2,upstream_gene_variant,,ENST00000475194,;	uc001hfw.2	c.1005G>A	1194/4063	5	2			c.1005G>A						1	SNP	c.(1003-1005)TGG>TGA	35	35			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8	Broad	complement component (3d/Epstein Barr virus)			207643227		0.522	ENSG00000117322	3777	g.chr1:207643227G>A	complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity							-11.559294	KEEP	3	1	-1	48	34	3	1	-1	6.466449	48	34	0.048193	1	0	0	0	0	0	1	0	0	--	--		0	A			CR2_uc001hfv.2_Nonsense_Mutation_p.W335*|CR2_uc009xch.2_Nonsense_Mutation_p.W335*|CR2_uc009xci.1_5'Flank	256	GBM-41-3915-TP	p.W335*	G	CTGGGACCTGGAGTGGCCCTG	NM_001877	NP_001868	207643227	P20023	CR2_HUMAN	0			6	1099	+	A	A			Nonsense_Mutation	335			Sushi 5.|Extracellular (Potential).			
CRAT	1384		GRCh37	9	131864744	131864744	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000318080.2:c.565A>G	p.Thr189Ala	p.T189A	ENST00000318080	NM_001257363.1	189	Aca/Gca	0																																																																																																																																																																																																																																												
CRB1	23418	broad.mit.edu	GRCh37	1	197407699	197407699	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01	TCGA-06-2565-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367400.3:c.3772G>A	p.Val1258Ile	p.V1258I	ENST00000367400	NM_201253.2	1258	Gtc/Atc	0			1			A	V/I	uc001gtz.2	protein_coding	YES	CCDS1390.1			3772/4221									ovary(5)|skin(3)|large_intestine(1)	9	c.(3772-3774)GTC>ATC			PROSITE_profiles:PS50026,hmmpanther:PTHR24049,SMART_domains:SM00181	crumbs homolog 1 precursor				ENSP00000356370		12-Oct									COSM3400162	12-Oct	.		ENST00000367400	Transcript	1		cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	ENSG00000134376	g.chr1:197407699G>A	2343			MODERATE		1.35	low	getma.org/?cm=msa&ty=f&p=CRUM1_HUMAN&rb=1255&re=1295&var=V1258I	NA	getma.org/?cm=var&var=hg19,1,197407699,G,A&fts=all	V1258I	--	--	1																																		CRB1_uc010poz.1_Missense_Mutation_p.V1234I|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.V1146I|CRB1_uc010ppb.1_Missense_Mutation_p.V722I|CRB1_uc010ppd.1_Missense_Mutation_p.V739I|CRB1_uc001gub.1_Missense_Mutation_p.V907I	1	1		benign(0.41)	p.V1258I	NM_201253	NP_957705		tolerated(0.23)	1	CRUM1_HUMAN	CRB1	HGNC	P82279	CRUM1_HUMAN			B7Z824_HUMAN		10	3907	+			UPI0000073345	1258			Extracellular (Potential).|EGF-like 18.		SNV	CRB1,missense_variant,p.Val639Ile,ENST00000367397,;CRB1,missense_variant,p.Val1258Ile,ENST00000367400,NM_201253.2;CRB1,missense_variant,p.Val1234Ile,ENST00000535699,NM_001257965.1;CRB1,missense_variant,p.Val1146Ile,ENST00000367399,NM_001193640.1;CRB1,missense_variant,p.Val739Ile,ENST00000544212,;CRB1,missense_variant,p.Val722Ile,ENST00000538660,NM_001257966.1;CRB1,upstream_gene_variant,,ENST00000448952,;RP11-75C23.1,intron_variant,,ENST00000422250,;CRB1,missense_variant,p.Val1258Ile,ENST00000484075,;	uc001gtz.2	c.3772G>A	3907/4932	2	2			c.3772G>A						1	SNP	c.(3772-3774)GTC>ATC	41	41			ovary(5)|skin(3)|large_intestine(1)	9	Broad	crumbs homolog 1 precursor			197407699		0.413	ENSG00000134376	3783	g.chr1:197407699G>A	cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding							-28.270099	KEEP	1	4	-1	79	85	1	4	-1	9.660299	79	85	0.031646	1	0	0	0	0	1	0	0	0	--	--		0	A			CRB1_uc010poz.1_Missense_Mutation_p.V1234I|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.V1146I|CRB1_uc010ppb.1_Missense_Mutation_p.V722I|CRB1_uc010ppd.1_Missense_Mutation_p.V739I|CRB1_uc001gub.1_Missense_Mutation_p.V907I	88	GBM-06-2565-TP	p.V1258I	G	ACCCTCAACAGTCTGTGGGAA	NM_201253	NP_957705	197407699	P82279	CRUM1_HUMAN	0			10	3907	+	A	A			Missense_Mutation	1258			Extracellular (Potential).|EGF-like 18.			
CRB1	23418		GRCh37	1	197313558	197313558	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000367400.3:c.800C>A	p.Ala267Asp	p.A267D	ENST00000367400	NM_201253.2	267	gCc/gAc	0																																																																																																																																																																																																																																												
CRB2	0	broad.mit.edu	GRCh37	9	126136965	126136965	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0781-01	TCGA-14-0781-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373631.3:c.3497C>T	p.Ala1166Val	p.A1166V	ENST00000373631	NM_173689.5	1166	gCt/gTt	0			1			T	A/V	uc004bnx.1	protein_coding	YES	CCDS6852.2			3497/3858									ovary(1)	1	c.(3496-3498)GCT>GTT			PROSITE_profiles:PS50026,hmmpanther:PTHR24043:SF1,hmmpanther:PTHR24043,PROSITE_patterns:PS00022,Gene3D:2.10.25.10,SMART_domains:SM00181	crumbs homolog 2 precursor				ENSP00000362734		13-Nov									COSM3413326	13-Nov	.		ENST00000373631	Transcript	1			extracellular region|integral to membrane|plasma membrane	calcium ion binding	ENSG00000148204	g.chr9:126136965C>T	18688			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=CRUM2_HUMAN&rb=1134&re=1171&var=A1166V	NA	getma.org/?cm=var&var=hg19,9,126136965,C,T&fts=all	A1166V	--	--	1																																			1	1		benign(0.082)	p.A1166V	NM_173689	NP_775960		tolerated(0.07)	1	CRUM2_HUMAN	CRB2	HGNC	Q5IJ48	CRUM2_HUMAN					11	3589	+			UPI000022D9DE	1166			Extracellular (Potential).|EGF-like 14.		SNV	CRB2,missense_variant,p.Ala1166Val,ENST00000373631,NM_173689.5;CRB2,missense_variant,p.Ala834Val,ENST00000373629,;DENND1A,downstream_gene_variant,,ENST00000373624,NM_020946.1;CRB2,downstream_gene_variant,,ENST00000359999,;DENND1A,downstream_gene_variant,,ENST00000473039,;CRB2,missense_variant,p.Ala834Val,ENST00000460253,;	uc004bnx.1	c.3497C>T	3498/5550	2	2			c.3497C>T						9	SNP	c.(3496-3498)GCT>GTT	36	36			ovary(1)	1	Broad	crumbs homolog 2 precursor			126136965		0.657	ENSG00000148204	3784	g.chr9:126136965C>T		extracellular region|integral to membrane|plasma membrane	calcium ion binding							-7.132222	KEEP	0	4	-1	29	35	0	4	-1	6.874508	29	35	0.046875	1	0	0	0	0	1	0	0	0	--	--		0	T				133	GBM-14-0781-TP	p.A1166V	C	GAGGGTCTTGCTGGCCAGAGG	NM_173689	NP_775960	126136965	Q5IJ48	CRUM2_HUMAN	0			11	3589	+	T	T			Missense_Mutation	1166			Extracellular (Potential).|EGF-like 14.			
CREB1	1385	broad.mit.edu	GRCh37	2	208434967	208434971	+	frameshift_variant	Frame_Shift_Del	DEL	GAAGA	GAAGA	-			TCGA-06-2561-01	TCGA-06-2561-01	GAAGA	GAAGA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000432329.2:c.470_474del	p.Glu157GlyfsTer20	p.E157Gfs*20	ENST00000432329	NM_134442.3	157	GAAGAg/g	0			1			-	EE/X	uc002vcc.2	protein_coding	YES	CCDS2375.1			469-473/1026	T		EWSR1		clear cell sarcoma|angiomatoid fibrous histiocytoma		EWSR1/CREB1(42)		soft_tissue(42)|breast(1)|central_nervous_system(1)	44	c.(469-474)GAAGAGfs			hmmpanther:PTHR22952,hmmpanther:PTHR22952:SF104,PROSITE_profiles:PS50953,Low_complexity_(Seg):seg	cAMP responsive element binding protein 1	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)			ENSP00000387699		9-Jun										9-Jun	.		ENST00000432329	Transcript	1		activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein dimerization activity|transcription cofactor activity	ENSG00000118260	g.chr2:208434967_208434971delGAAGA	2345	1		HIGH								--	--	1																																		CREB1_uc010ziz.1_Frame_Shift_Del_p.E141fs|CREB1_uc002vcd.2_Frame_Shift_Del_p.E143fs|CREB1_uc010zja.1_RNA		1			p.E157fs	NM_134442	NP_604391				CREB1_HUMAN	CREB1	HGNC	P16220	CREB1_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Q5U0J5_HUMAN,Q53RU9_HUMAN,Q4ZG78_HUMAN,E7EWP8_HUMAN,C9JCI4_HUMAN,C9J4L5_HUMAN,C9J276_HUMAN		6	720_724	+			UPI000012841D	157_158			KID.		deletion	CREB1,frameshift_variant,p.Glu157GlyfsTer20,ENST00000432329,NM_134442.3;CREB1,frameshift_variant,p.Glu143GlyfsTer20,ENST00000353267,NM_004379.3;CREB1,frameshift_variant,p.Glu143GlyfsTer20,ENST00000430624,;CREB1,frameshift_variant,p.Glu157GlyfsTer11,ENST00000374397,;CREB1,frameshift_variant,p.Glu143GlyfsTer20,ENST00000536726,;CREB1,frameshift_variant,p.Glu117GlyfsTer20,ENST00000539789,;CREB1,frameshift_variant,p.Glu103GlyfsTer20,ENST00000448277,;CREB1,frameshift_variant,p.Glu103GlyfsTer20,ENST00000421139,;CREB1,frameshift_variant,p.Glu157GlyfsTer20,ENST00000445803,;CREB1,frameshift_variant,p.Glu117GlyfsTer?,ENST00000457101,;CREB1,downstream_gene_variant,,ENST00000452474,;CREB1,non_coding_transcript_exon_variant,,ENST00000480189,;CREB1,frameshift_variant,p.Glu90GlyfsTer20,ENST00000418081,;CREB1,downstream_gene_variant,,ENST00000464407,;CREB1,downstream_gene_variant,,ENST00000494094,;	uc002vcc.2	c.469_473delGAAGA	720-724/7650	5	5			c.469_473delGAAGA	T		EWSR1		clear cell sarcoma|angiomatoid fibrous histiocytoma	2	DEL	c.(469-474)GAAGAGfs	32	32	EWSR1/CREB1(42)		soft_tissue(42)|breast(1)|central_nervous_system(1)	44	Broad	cAMP responsive element binding protein 1		Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)	208434971		0.371	ENSG00000118260	3789	g.chr2:208434967_208434971delGAAGA	activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein dimerization activity|transcription cofactor activity			76			76														0.25	1	1	0	1	0	0	0	0	0	--	--		0	-			CREB1_uc010ziz.1_Frame_Shift_Del_p.E141fs|CREB1_uc002vcd.2_Frame_Shift_Del_p.E143fs|CREB1_uc010zja.1_RNA	84	GBM-06-2561-TP	p.E157fs	GAAGA	AGAGAAGTCTGAAGAGGAGACTTCA	NM_134442	NP_604391	208434967	P16220	CREB1_HUMAN	0		LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	6	720_724	+	-	-			Frame_Shift_Del	157_158			KID.			
CREB3L1	0	broad.mit.edu	GRCh37	11	46321656	46321656	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000529193.1:c.273C>T	p.Ser91=	p.S91=	ENST00000529193	NM_052854.3	91	agC/agT	0			1			T	S	uc001ncf.2	protein_coding	YES	CCDS53620.1			273/1560	T		FUS		myxofibrosarcoma		FUS/CREB3L1(6)		soft_tissue(6)|ovary(2)	8	c.(271-273)AGC>AGT			hmmpanther:PTHR22952,hmmpanther:PTHR22952:SF24	cAMP responsive element binding protein 3-like				ENSP00000434939		12-Feb	1.65E-05					1.59E-05		6.46E-05	rs755740355,COSM3397697	12-Feb	.		ENST00000529193	Transcript	1		response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000157613	g.chr11:46321656C>T	18856			LOW								--	--	1																																			0,1	1			p.S91S	NM_052854	NP_443086			0,1	CR3L1_HUMAN	CREB3L1	HGNC	Q96BA8	CR3L1_HUMAN		GBM - Glioblastoma multiforme(35;0.0285)	E9PK33_HUMAN		2	708	+			UPI000004ABFF	91			Cytoplasmic (Potential).		SNV	CREB3L1,synonymous_variant,p.=,ENST00000529193,NM_052854.3;CREB3L1,synonymous_variant,p.=,ENST00000288400,;CREB3L1,synonymous_variant,p.=,ENST00000534787,;	uc001ncf.2	c.273C>T	724/2687	1	1			c.273C>T	T		FUS		myxofibrosarcoma	11	SNP	c.(271-273)AGC>AGT	1	1	FUS/CREB3L1(6)		soft_tissue(6)|ovary(2)	8	Broad	cAMP responsive element binding protein 3-like			46321656		0.607	ENSG00000157613	3791	g.chr11:46321656C>T	response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	Pancreas(3;159 194 19597 26278 47995)			Pancreas(3;159 194 19597 26278 47995)			33.68742	KEEP	4	10	-1	11	19	4	10	-1	34.833758	11	19	0.315789	1	0	0	0	0	0	0	1	0	--	--		0	T				160	GBM-19-1790-TP	p.S91S	C	ACTCCCTGAGCGGCGACTCAG	NM_052854	NP_443086	46321656	Q96BA8	CR3L1_HUMAN	0		GBM - Glioblastoma multiforme(35;0.0285)	2	708	+	T	T			Silent	91			Cytoplasmic (Potential).			
CREB3L1	0	broad.mit.edu	GRCh37	11	46341859	46341859	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-2631-01	TCGA-19-2631-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000529193.1:c.1303T>C	p.Trp435Arg	p.W435R	ENST00000529193	NM_052854.3	435	Tgg/Cgg	0			1			C	W/R	uc001ncf.2	protein_coding	YES	CCDS53620.1			1303/1560	T		FUS		myxofibrosarcoma		FUS/CREB3L1(6)		soft_tissue(6)|ovary(2)	8	c.(1303-1305)TGG>CGG			hmmpanther:PTHR22952,hmmpanther:PTHR22952:SF24	cAMP responsive element binding protein 3-like				ENSP00000434939		12-Nov									COSM3397698	12-Nov	.		ENST00000529193	Transcript	1		response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000157613	g.chr11:46341859T>C	18856			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=CR3L1_HUMAN&rb=360&re=519&var=W435R	NA	getma.org/?cm=var&var=hg19,11,46341859,T,C&fts=all	W435R	--	--	1																																		CREB3L1_uc001ncg.2_Missense_Mutation_p.W69R	1	1		benign(0.169)	p.W435R	NM_052854	NP_443086		tolerated(0.22)	1	CR3L1_HUMAN	CREB3L1	HGNC	Q96BA8	CR3L1_HUMAN		GBM - Glioblastoma multiforme(35;0.0285)	E9PK33_HUMAN		11	1738	+			UPI000004ABFF	435			Lumenal (Potential).		SNV	CREB3L1,missense_variant,p.Trp435Arg,ENST00000529193,NM_052854.3;CREB3L1,missense_variant,p.Trp435Arg,ENST00000288400,;CREB3L1,downstream_gene_variant,,ENST00000530518,;CREB3L1,downstream_gene_variant,,ENST00000534616,;CREB3L1,non_coding_transcript_exon_variant,,ENST00000530244,;	uc001ncf.2	c.1303T>C	1754/2687	3	3			c.1303T>C	T		FUS		myxofibrosarcoma	11	SNP	c.(1303-1305)TGG>CGG	50	50	FUS/CREB3L1(6)		soft_tissue(6)|ovary(2)	8	Broad	cAMP responsive element binding protein 3-like			46341859		0.652	ENSG00000157613	3791	g.chr11:46341859T>C	response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	Pancreas(3;159 194 19597 26278 47995)			Pancreas(3;159 194 19597 26278 47995)			30.046403	KEEP	6	5	-1	7	16	6	5	-1	30.191665	7	16	0.416667	1	0	0	0	0	1	0	0	0	--	--		0	C			CREB3L1_uc001ncg.2_Missense_Mutation_p.W69R	167	GBM-19-2631-TP	p.W435R	T	GGCAGGCTTATGGGAAGATGG	NM_052854	NP_443086	46341859	Q96BA8	CR3L1_HUMAN	0		GBM - Glioblastoma multiforme(35;0.0285)	11	1738	+	C	C			Missense_Mutation	435			Lumenal (Potential).			
CREB3L2	64764	broad.mit.edu	GRCh37	7	137686380	137686380	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5859-01	TCGA-06-5859-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330387.6:c.72C>T	p.Pro24=	p.P24=	ENST00000330387	NM_194071.3	24	ccC/ccT	0			1			A	P	uc003vtw.2	protein_coding	YES	CCDS34760.1			72/1563	T		FUS		fibromyxoid sarcoma		FUS/CREB3L2(158)		soft_tissue(158)|upper_aerodigestive_tract(1)|ovary(1)	160	c.(70-72)CCC>CCT			hmmpanther:PTHR22952:SF96,hmmpanther:PTHR22952	cAMP responsive element binding protein 3-like				ENSP00000329140		12-Jan	1.65E-05					1.58E-05		6.36E-05	rs758797783,COSM3411623,COSM3411624,COSM3411625	12-Jan	.		ENST00000330387	Transcript	1		chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000182158	g.chr7:137686380G>A	23720			LOW								--	--	1																																		CREB3L2_uc003vtx.1_Silent_p.P24P|CREB3L2_uc003vty.3_Silent_p.P24P|AKR1D1_uc011kqb.1_5'Flank|AKR1D1_uc011kqc.1_5'Flank|AKR1D1_uc011kqd.1_5'Flank	0,1,1,1	1			p.P24P	NM_194071	NP_919047			0,1,1,1	CR3L2_HUMAN	CREB3L2	HGNC	Q70SY1	CR3L2_HUMAN					1	467	-			UPI0000457614	24			Cytoplasmic (Potential).		SNV	CREB3L2,synonymous_variant,p.=,ENST00000330387,NM_194071.3;CREB3L2,synonymous_variant,p.=,ENST00000456390,;CREB3L2,synonymous_variant,p.=,ENST00000452463,NM_001253775.1;CREB3L2,non_coding_transcript_exon_variant,,ENST00000468127,;AKR1D1,upstream_gene_variant,,ENST00000468877,;	uc003vtw.2	c.72C>T	424/7412	2	2			c.72C>T	T		FUS		fibromyxoid sarcoma	7	SNP	c.(70-72)CCC>CCT	18	18	FUS/CREB3L2(158)		soft_tissue(158)|upper_aerodigestive_tract(1)|ovary(1)	160	Broad	cAMP responsive element binding protein 3-like			137686380		0.706	ENSG00000182158	3792	g.chr7:137686380G>A	chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			123			123	-10.719606	KEEP	1	3	-1	41	50	1	3	-1	6.365366	41	50	0.04	1	0	0	0	0	0	0	1	0	--	--		0	A			CREB3L2_uc003vtx.1_Silent_p.P24P|CREB3L2_uc003vty.3_Silent_p.P24P|AKR1D1_uc011kqb.1_5'Flank|AKR1D1_uc011kqc.1_5'Flank|AKR1D1_uc011kqd.1_5'Flank	103	GBM-06-5859-TP	p.P24P	G	CGCCGTCCCCGGGCTCTGACA	NM_194071	NP_919047	137686380	Q70SY1	CR3L2_HUMAN	0			1	467	-	A	A			Silent	24			Cytoplasmic (Potential).			
CREB3L3	0	broad.mit.edu	GRCh37	19	4171806	4171806	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs148141076		TCGA-19-5960-01	TCGA-19-5960-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000078445.2:c.1226C>T	p.Ala409Val	p.A409V	ENST00000078445	NM_032607.2	409	gCg/gTg	0	T:0.0002		1			T	A/V	uc002lzl.2	protein_coding	YES	CCDS12121.1			1226/1386									ovary(1)|skin(1)	2	c.(1225-1227)GCG>GTG			hmmpanther:PTHR22952,hmmpanther:PTHR22952:SF98	cAMP responsive element binding protein 3-like			T:0	ENSP00000078445		10-Oct	2.47E-05	0.000101		0.000117		1.54E-05			rs148141076,COSM3404266	10-Oct	.		ENST00000078445	Transcript	1		response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000060566	g.chr19:4171806C>T	18855			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CR3L3_HUMAN&rb=315&re=410&var=A409V	NA	getma.org/?cm=var&var=hg19,19,4171806,C,T&fts=all	A409V	--	--	1																																		CREB3L3_uc002lzm.2_Missense_Mutation_p.A399V|CREB3L3_uc010xib.1_Missense_Mutation_p.A398V|CREB3L3_uc010xic.1_3'UTR	0,1	1		benign(0.001)	p.A409V	NM_032607	NP_115996		tolerated_low_confidence(0.35)	0,1	CR3L3_HUMAN	CREB3L3	HGNC	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)			10	1342	+			UPI000006FCF0	409			Lumenal (Potential).		SNV	CREB3L3,stop_gained,p.Arg298Ter,ENST00000252587,;CREB3L3,missense_variant,p.Ala409Val,ENST00000078445,NM_032607.2,NM_001271996.1,NM_001271997.1,NM_001271995.1;CREB3L3,missense_variant,p.Ala408Val,ENST00000595923,;CREB3L3,missense_variant,p.Ala407Val,ENST00000602257,;CREB3L3,3_prime_UTR_variant,,ENST00000602147,;SIRT6,downstream_gene_variant,,ENST00000337491,NM_016539.2;SIRT6,downstream_gene_variant,,ENST00000594279,;SIRT6,downstream_gene_variant,,ENST00000305232,NM_001193285.1;SIRT6,downstream_gene_variant,,ENST00000381935,;SIRT6,downstream_gene_variant,,ENST00000601488,;SIRT6,downstream_gene_variant,,ENST00000597896,;SIRT6,downstream_gene_variant,,ENST00000601571,;SIRT6,downstream_gene_variant,,ENST00000596119,;SIRT6,downstream_gene_variant,,ENST00000600938,;SIRT6,downstream_gene_variant,,ENST00000600540,;SIRT6,downstream_gene_variant,,ENST00000599365,;SIRT6,downstream_gene_variant,,ENST00000601069,;SIRT6,downstream_gene_variant,,ENST00000595670,;SIRT6,downstream_gene_variant,,ENST00000596298,;SIRT6,downstream_gene_variant,,ENST00000599394,;CREB3L3,downstream_gene_variant,,ENST00000598894,;	uc002lzl.2	c.1226C>T	1373/2618	2	2			c.1226C>T						19	SNP	c.(1225-1227)GCG>GTG	26	26			ovary(1)|skin(1)	2	Broad	cAMP responsive element binding protein 3-like			4171806		0.677	ENSG00000060566	3793	g.chr19:4171806C>T	response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							84.022564	KEEP	10	21	-1	19	32	10	21	-1	84.546477	19	32	0.405797	1	0	0	0	0	1	0	0	0	--	--		0	T			CREB3L3_uc002lzm.2_Missense_Mutation_p.A399V|CREB3L3_uc010xib.1_Missense_Mutation_p.A398V|CREB3L3_uc010xic.1_3'UTR	178	GBM-19-5960-TP	p.A409V	C	CAGGACACCGCGAACCTGACC	NM_032607	NP_115996	4171806	Q68CJ9	CR3L3_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1342	+	T	T			Missense_Mutation	409			Lumenal (Potential).			
CREB3L3	0	broad.mit.edu	GRCh37	19	4168400	4168400	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs147422200	by1000genomes	TCGA-76-4925-01	TCGA-76-4925-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000078445.2:c.767C>T	p.Ser256Leu	p.S256L	ENST00000078445	NM_032607.2	256	tCg/tTg	0		T:0	1	T:0		T	S/L	uc002lzl.2	protein_coding	YES	CCDS12121.1			767/1386									ovary(1)|skin(1)	2	c.(766-768)TCG>TTG			PROSITE_profiles:PS50217,hmmpanther:PTHR22952,hmmpanther:PTHR22952:SF98,PROSITE_patterns:PS00036,Gene3D:1.20.5.170,Pfam_domain:PF00170,SMART_domains:SM00338,Superfamily_domains:SSF57959	cAMP responsive element binding protein 3-like		T:0		ENSP00000078445	T:0.001	10-Jun									rs147422200,COSM2157507	10-Jun	.		ENST00000078445	Transcript	1	T:0.0002	response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000060566	g.chr19:4168400C>T	18855			MODERATE		4.125	high	getma.org/?cm=msa&ty=f&p=CR3L3_HUMAN&rb=241&re=314&var=S256L	getma.org/pdb.php?prot=CR3L3_HUMAN&from=241&to=314&var=S256L	getma.org/?cm=var&var=hg19,19,4168400,C,T&fts=all	S256L	--	--	1																																		CREB3L3_uc002lzm.2_Missense_Mutation_p.S246L|CREB3L3_uc010xib.1_Missense_Mutation_p.S245L|CREB3L3_uc010xic.1_Intron	0,1	1		probably_damaging(0.999)	p.S256L	NM_032607	NP_115996	T:0	deleterious(0.02)	0,1	CR3L3_HUMAN	CREB3L3	HGNC	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)			6	883	+			UPI000006FCF0	256			Basic motif.|Cytoplasmic (Potential).		SNV	CREB3L3,missense_variant,p.Ser256Leu,ENST00000078445,NM_032607.2,NM_001271996.1,NM_001271997.1,NM_001271995.1;CREB3L3,missense_variant,p.Ser196Leu,ENST00000252587,;CREB3L3,missense_variant,p.Ser255Leu,ENST00000595923,;CREB3L3,missense_variant,p.Ser254Leu,ENST00000602257,;CREB3L3,intron_variant,,ENST00000602147,;CREB3L3,non_coding_transcript_exon_variant,,ENST00000598894,;	uc002lzl.2	c.767C>T	914/2618	1	1			c.767C>T						19	SNP	c.(766-768)TCG>TTG	11	11			ovary(1)|skin(1)	2	Broad	cAMP responsive element binding protein 3-like			4168400		0.398	ENSG00000060566	3793	g.chr19:4168400C>T	response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							74.327257	KEEP	14	14	-1	21	34	14	14	-1	76.00123	21	34	0.342105	1	0	0	0	0	1	0	0	0	--	--		0	T			CREB3L3_uc002lzm.2_Missense_Mutation_p.S246L|CREB3L3_uc010xib.1_Missense_Mutation_p.S245L|CREB3L3_uc010xic.1_Intron	265	GBM-76-4925-TP	p.S256L	C	AACAAGCAGTCGGCGCAAGAA	NM_032607	NP_115996	4168400	Q68CJ9	CR3L3_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	6	883	+	T	T			Missense_Mutation	256			Basic motif.|Cytoplasmic (Potential).			
CREB3L3	84699		GRCh37	19	4171163	4171163	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000078445.2:c.966C>T	p.Thr322=	p.T322=	ENST00000078445	NM_032607.2	322	acC/acT	0																																																																																																																																																																																																																																												
CREB3L4	148327		GRCh37	1	153941905	153941905	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000368607.3:c.517G>A	p.Val173Ile	p.V173I	ENST00000368607	NM_001255980.1	173	Gta/Ata	0																																																																																																																																																																																																																																												
CREBBP	1387	broad.mit.edu	GRCh37	16	3843446	3843446	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-02-0047-01	TCGA-02-0047-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262367.5:c.1157del	p.Arg386GlnfsTer3	p.R386Qfs*3	ENST00000262367	NM_004380.2	386	cGa/ca	0			1			-	R/X	uc002cvv.2	protein_coding	YES	CCDS10509.1			1157/7329	T|N|F|Mis|O	Rubinstein-Taybi syndrome	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL			p.R386*(1)	haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127	c.(1156-1158)CGAfs			PROSITE_profiles:PS50134,hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF5,Gene3D:1.20.1020.10,Pfam_domain:PF02135,SMART_domains:SM00551,Superfamily_domains:SSF57933	CREB binding protein isoform a				ENSP00000262367		Apr-31										Apr-31	.	Rubinstein-Taybi_syndrome	ENST00000262367	Transcript	1		cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	ENSG00000005339	g.chr16:3843446delC	2348			HIGH								--	--	1																																		CREBBP_uc002cvw.2_Frame_Shift_Del_p.R386fs		1			p.R386fs	NM_004380	NP_004371				CBP_HUMAN	CREBBP	HGNC	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	Q75MY6_HUMAN,I3L3I5_HUMAN,B5A253_HUMAN,B5A252_HUMAN,B5A250_HUMAN,B5A246_HUMAN,B5A244_HUMAN,B5A243_HUMAN,B5A242_HUMAN,B5A240_HUMAN,B5A239_HUMAN,B5A235_HUMAN,B5A231_HUMAN,B5A227_HUMAN,B5A226_HUMAN,B5A222_HUMAN,B5A221_HUMAN,B5A219_HUMAN,B5A218_HUMAN,B5A216_HUMAN,B5A215_HUMAN,B5A214_HUMAN,B5A212_HUMAN		4	1361	-		Ovarian(90;0.0266)	UPI0000000620	386			TAZ-type 1.|Interaction with SRCAP.		deletion	CREBBP,frameshift_variant,p.Arg386GlnfsTer3,ENST00000262367,NM_004380.2;CREBBP,frameshift_variant,p.Arg386GlnfsTer3,ENST00000382070,NM_001079846.1;	uc002cvv.2	c.1157delG	1967/10803	5	5			c.1157delG	T|N|F|Mis|O	Rubinstein-Taybi syndrome	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL	16	DEL	c.(1156-1158)CGAfs	14	14		p.R386*(1)	haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127	Broad	CREB binding protein isoform a			3843446	Rubinstein-Taybi_syndrome	0.507	ENSG00000005339	3796	g.chr16:3843446delC	cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			748			748														0.06	1	1	0	1	0	0	0	0	0	--	--		0	-			CREBBP_uc002cvw.2_Frame_Shift_Del_p.R386fs	3	GBM-02-0047-TP	p.R386fs	C	TTTCATGGTTCGACAATGCGG	NM_004380	NP_004371	3843446	Q92793	CBP_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	4	1361	-	-	-		Ovarian(90;0.0266)	Frame_Shift_Del	386			TAZ-type 1.|Interaction with SRCAP.			
CREBBP	1387	broad.mit.edu	GRCh37	16	3842056	3842056	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0749-01	TCGA-06-0749-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262367.5:c.1256G>A	p.Trp419Ter	p.W419*	ENST00000262367	NM_004380.2	419	tGg/tAg	0			1			T	W/*	uc002cvv.2	protein_coding	YES	CCDS10509.1			1256/7329	T|N|F|Mis|O	Rubinstein-Taybi syndrome	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL				haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127	c.(1255-1257)TGG>TAG			PROSITE_profiles:PS50134,hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF5,Gene3D:1.20.1020.10,Pfam_domain:PF02135,SMART_domains:SM00551,Superfamily_domains:SSF57933	CREB binding protein isoform a				ENSP00000262367		31-May									COSM2151925	31-May	.	Rubinstein-Taybi_syndrome	ENST00000262367	Transcript	1		cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	ENSG00000005339	g.chr16:3842056C>T	2348			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,16,3842056,C,T&fts=all	W419*	--	--	1																																		CREBBP_uc002cvw.2_Intron	1	1			p.W419*	NM_004380	NP_004371			1	CBP_HUMAN	CREBBP	HGNC	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	Q75MY6_HUMAN,I3L3I5_HUMAN,B5A253_HUMAN,B5A252_HUMAN,B5A250_HUMAN,B5A246_HUMAN,B5A244_HUMAN,B5A243_HUMAN,B5A242_HUMAN,B5A240_HUMAN,B5A239_HUMAN,B5A235_HUMAN,B5A231_HUMAN,B5A227_HUMAN,B5A226_HUMAN,B5A222_HUMAN,B5A221_HUMAN,B5A219_HUMAN,B5A218_HUMAN,B5A216_HUMAN,B5A215_HUMAN,B5A214_HUMAN,B5A212_HUMAN		5	1460	-		Ovarian(90;0.0266)	UPI0000000620	419			TAZ-type 1.		SNV	CREBBP,stop_gained,p.Trp419Ter,ENST00000262367,NM_004380.2;CREBBP,intron_variant,,ENST00000382070,NM_001079846.1;	uc002cvv.2	c.1256G>A	2066/10803	5	1			c.1256G>A	T|N|F|Mis|O	Rubinstein-Taybi syndrome	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL	16	SNP	c.(1255-1257)TGG>TAG	1	1			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127	Broad	CREB binding protein isoform a			3842056	Rubinstein-Taybi_syndrome	0.428	ENSG00000005339	3796	g.chr16:3842056C>T	cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			748			748	117.021704	KEEP	34	14	-1	72	50	34	14	-1	122.807364	72	50	0.290541	1	0	0	0	0	0	1	0	0	--	--		0	T			CREBBP_uc002cvw.2_Intron	69	GBM-06-0749-TP	p.W419*	C	GCAGTTCTTCCAATGAGAGAT	NM_004380	NP_004371	3842056	Q92793	CBP_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	5	1460	-	T	T		Ovarian(90;0.0266)	Nonsense_Mutation	419			TAZ-type 1.			
CREBBP	0	broad.mit.edu	GRCh37	16	3820625	3820625	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-16-0861-01	TCGA-16-0861-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262367.5:c.2826T>C	p.Pro942=	p.P942=	ENST00000262367	NM_004380.2	942	ccT/ccC	0			1			G	P	uc002cvv.2	protein_coding	YES	CCDS10509.1			2826/7329	T|N|F|Mis|O	Rubinstein-Taybi syndrome	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL				haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127	c.(2824-2826)CCT>CCC			Low_complexity_(Seg):seg,hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF5	CREB binding protein isoform a				ENSP00000262367		14/31	1.65E-05				0.000151	1.50E-05			rs768507574,COSM3747999	14/31	.	Rubinstein-Taybi_syndrome	ENST00000262367	Transcript	1		cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	ENSG00000005339	g.chr16:3820625A>G	2348			LOW								--	--	1																																		CREBBP_uc002cvw.2_Silent_p.P904P	0,1	1			p.P942P	NM_004380	NP_004371			0,1	CBP_HUMAN	CREBBP	HGNC	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	Q75MY6_HUMAN,I3L3I5_HUMAN,B5A253_HUMAN,B5A252_HUMAN,B5A250_HUMAN,B5A246_HUMAN,B5A244_HUMAN,B5A243_HUMAN,B5A242_HUMAN,B5A240_HUMAN,B5A239_HUMAN,B5A235_HUMAN,B5A231_HUMAN,B5A227_HUMAN,B5A226_HUMAN,B5A222_HUMAN,B5A221_HUMAN,B5A219_HUMAN,B5A218_HUMAN,B5A216_HUMAN,B5A215_HUMAN,B5A214_HUMAN,B5A212_HUMAN		14	3030	-		Ovarian(90;0.0266)	UPI0000000620	942					SNV	CREBBP,synonymous_variant,p.=,ENST00000262367,NM_004380.2;CREBBP,synonymous_variant,p.=,ENST00000382070,NM_001079846.1;CREBBP,upstream_gene_variant,,ENST00000570939,;CREBBP,downstream_gene_variant,,ENST00000572134,;CREBBP,downstream_gene_variant,,ENST00000571826,;CREBBP,non_coding_transcript_exon_variant,,ENST00000573672,;CREBBP,downstream_gene_variant,,ENST00000575237,;	uc002cvv.2	c.2826T>C	3636/10803	3	3			c.2826T>C	T|N|F|Mis|O	Rubinstein-Taybi syndrome	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL	16	SNP	c.(2824-2826)CCT>CCC	55	55			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127	Broad	CREB binding protein isoform a			3820625	Rubinstein-Taybi_syndrome	0.627	ENSG00000005339	3796	g.chr16:3820625A>G	cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			748			748	-18.13161	KEEP	54	9	-1	129	105	54	9	-1	6.462425	129	105	0.065041	1	0	0	0	0	0	0	1	0	--	--		0	G			CREBBP_uc002cvw.2_Silent_p.P904P	156	GBM-16-0861-TP	p.P942P	A	GCGATGACTGAGGGGTAGCCA	NM_004380	NP_004371	3820625	Q92793	CBP_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	14	3030	-	G	G		Ovarian(90;0.0266)	Silent	942						
CREBBP	0	broad.mit.edu	GRCh37	16	3779062	3779062	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01	TCGA-28-2514-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262367.5:c.5986G>A	p.Ala1996Thr	p.A1996T	ENST00000262367	NM_004380.2	1996	Gcc/Acc	0			1			T	A/T	uc002cvv.2	protein_coding	YES	CCDS10509.1			5986/7329	T|N|F|Mis|O	Rubinstein-Taybi syndrome	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL				haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127	c.(5986-5988)GCC>ACC			hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF5	CREB binding protein isoform a				ENSP00000262367		31/31									COSM3402317	31/31	.	Rubinstein-Taybi_syndrome	ENST00000262367	Transcript	1		cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	ENSG00000005339	g.chr16:3779062C>T	2348			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=CBP_HUMAN&rb=1844&re=2015&var=A1996T	NA	getma.org/?cm=var&var=hg19,16,3779062,C,T&fts=all	A1996T	--	--	1																																		CREBBP_uc002cvw.2_Missense_Mutation_p.A1958T	1	1		unknown(0)	p.A1996T	NM_004380	NP_004371			1	CBP_HUMAN	CREBBP	HGNC	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	Q75MY6_HUMAN,I3L3I5_HUMAN,B5A253_HUMAN,B5A252_HUMAN,B5A250_HUMAN,B5A246_HUMAN,B5A244_HUMAN,B5A243_HUMAN,B5A242_HUMAN,B5A240_HUMAN,B5A239_HUMAN,B5A235_HUMAN,B5A231_HUMAN,B5A227_HUMAN,B5A226_HUMAN,B5A222_HUMAN,B5A221_HUMAN,B5A219_HUMAN,B5A218_HUMAN,B5A216_HUMAN,B5A215_HUMAN,B5A214_HUMAN,B5A212_HUMAN		31	6190	-		Ovarian(90;0.0266)	UPI0000000620	1996					SNV	CREBBP,missense_variant,p.Ala1996Thr,ENST00000262367,NM_004380.2;CREBBP,missense_variant,p.Ala1958Thr,ENST00000382070,NM_001079846.1;CREBBP,downstream_gene_variant,,ENST00000576720,;CREBBP,downstream_gene_variant,,ENST00000571763,;	uc002cvv.2	c.5986G>A	6796/10803	2	2			c.5986G>A	T|N|F|Mis|O	Rubinstein-Taybi syndrome	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL	16	SNP	c.(5986-5988)GCC>ACC	35	35			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127	Broad	CREB binding protein isoform a			3779062	Rubinstein-Taybi_syndrome	0.697	ENSG00000005339	3796	g.chr16:3779062C>T	cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			748			748	19.253145	KEEP	2	6	-1	3	0	2	6	-1	19.707352	3	0	0.75	1	0	0	0	0	1	0	0	0	--	--		0	T			CREBBP_uc002cvw.2_Missense_Mutation_p.A1958T	214	GBM-28-2514-TP	p.A1996T	C	CTCACGGGGGCCATCTGGCTC	NM_004380	NP_004371	3779062	Q92793	CBP_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	31	6190	-	T	T		Ovarian(90;0.0266)	Missense_Mutation	1996						
CREBBP	0	broad.mit.edu	GRCh37	16	3820625	3820625	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-32-2491-01	TCGA-32-2491-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262367.5:c.2826T>C	p.Pro942=	p.P942=	ENST00000262367	NM_004380.2	942	ccT/ccC	0			1			G	P	uc002cvv.2	protein_coding	YES	CCDS10509.1			2826/7329	T|N|F|Mis|O	Rubinstein-Taybi syndrome	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL				haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127	c.(2824-2826)CCT>CCC			Low_complexity_(Seg):seg,hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF5	CREB binding protein isoform a				ENSP00000262367		14/31	1.65E-05				0.000151	1.50E-05			rs768507574,COSM3747999	14/31	.	Rubinstein-Taybi_syndrome	ENST00000262367	Transcript	1		cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	ENSG00000005339	g.chr16:3820625A>G	2348			LOW								--	--	1																																		CREBBP_uc002cvw.2_Silent_p.P904P	0,1	1			p.P942P	NM_004380	NP_004371			0,1	CBP_HUMAN	CREBBP	HGNC	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	Q75MY6_HUMAN,I3L3I5_HUMAN,B5A253_HUMAN,B5A252_HUMAN,B5A250_HUMAN,B5A246_HUMAN,B5A244_HUMAN,B5A243_HUMAN,B5A242_HUMAN,B5A240_HUMAN,B5A239_HUMAN,B5A235_HUMAN,B5A231_HUMAN,B5A227_HUMAN,B5A226_HUMAN,B5A222_HUMAN,B5A221_HUMAN,B5A219_HUMAN,B5A218_HUMAN,B5A216_HUMAN,B5A215_HUMAN,B5A214_HUMAN,B5A212_HUMAN		14	3030	-		Ovarian(90;0.0266)	UPI0000000620	942					SNV	CREBBP,synonymous_variant,p.=,ENST00000262367,NM_004380.2;CREBBP,synonymous_variant,p.=,ENST00000382070,NM_001079846.1;CREBBP,upstream_gene_variant,,ENST00000570939,;CREBBP,downstream_gene_variant,,ENST00000572134,;CREBBP,downstream_gene_variant,,ENST00000571826,;CREBBP,non_coding_transcript_exon_variant,,ENST00000573672,;CREBBP,downstream_gene_variant,,ENST00000575237,;	uc002cvv.2	c.2826T>C	3636/10803	3	3			c.2826T>C	T|N|F|Mis|O	Rubinstein-Taybi syndrome	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL	16	SNP	c.(2824-2826)CCT>CCC	55	55			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127	Broad	CREB binding protein isoform a			3820625	Rubinstein-Taybi_syndrome	0.627	ENSG00000005339	3796	g.chr16:3820625A>G	cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			748			748	-29.795377	KEEP	32	22	-1	179	110	32	22	-1	8.900802	179	110	0.05914	1	0	0	0	0	0	0	1	0	--	--		0	G			CREBBP_uc002cvw.2_Silent_p.P904P	235	GBM-32-2491-TP	p.P942P	A	GCGATGACTGAGGGGTAGCCA	NM_004380	NP_004371	3820625	Q92793	CBP_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	14	3030	-	G	G		Ovarian(90;0.0266)	Silent	942						
CREBBP	0	broad.mit.edu	GRCh37	16	3790494	3790494	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262367.5:c.4039C>T	p.Arg1347Trp	p.R1347W	ENST00000262367	NM_004380.2	1347	Cgg/Tgg	0			1			A	R/W	uc002cvv.2	protein_coding	YES	CCDS10509.1			4039/7329	T|N|F|Mis|O	Rubinstein-Taybi syndrome	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL				haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127	c.(4039-4041)CGG>TGG			hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF5,Pfam_domain:PF08214	CREB binding protein isoform a				ENSP00000262367		24/31									COSM3402318	24/31	.	Rubinstein-Taybi_syndrome	ENST00000262367	Transcript	1		cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	ENSG00000005339	g.chr16:3790494G>A	2348			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=CBP_HUMAN&rb=1342&re=1648&var=R1347W	getma.org/pdb.php?prot=CBP_HUMAN&from=1342&to=1648&var=R1347W	getma.org/?cm=var&var=hg19,16,3790494,G,A&fts=all	R1347W	--	--	1																																		CREBBP_uc002cvw.2_Missense_Mutation_p.R1309W	1	1		unknown(0)	p.R1347W	NM_004380	NP_004371			1	CBP_HUMAN	CREBBP	HGNC	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	Q75MY6_HUMAN,I3L3I5_HUMAN,B5A253_HUMAN,B5A252_HUMAN,B5A250_HUMAN,B5A246_HUMAN,B5A244_HUMAN,B5A243_HUMAN,B5A242_HUMAN,B5A240_HUMAN,B5A239_HUMAN,B5A235_HUMAN,B5A231_HUMAN,B5A227_HUMAN,B5A226_HUMAN,B5A222_HUMAN,B5A221_HUMAN,B5A219_HUMAN,B5A218_HUMAN,B5A216_HUMAN,B5A215_HUMAN,B5A214_HUMAN,B5A212_HUMAN		24	4243	-		Ovarian(90;0.0266)	UPI0000000620	1347			Cys/His-rich.		SNV	CREBBP,missense_variant,p.Arg1347Trp,ENST00000262367,NM_004380.2;CREBBP,missense_variant,p.Arg1309Trp,ENST00000382070,NM_001079846.1;CREBBP,missense_variant,p.Arg221Trp,ENST00000570939,;CREBBP,missense_variant,p.Arg115Trp,ENST00000573517,;CREBBP,non_coding_transcript_exon_variant,,ENST00000576720,;CREBBP,non_coding_transcript_exon_variant,,ENST00000572569,;CREBBP,non_coding_transcript_exon_variant,,ENST00000574740,;CREBBP,upstream_gene_variant,,ENST00000571763,;	uc002cvv.2	c.4039C>T	4849/10803	1	1			c.4039C>T	T|N|F|Mis|O	Rubinstein-Taybi syndrome	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL	16	SNP	c.(4039-4041)CGG>TGG	52	52			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127	Broad	CREB binding protein isoform a			3790494	Rubinstein-Taybi_syndrome	0.562	ENSG00000005339	3796	g.chr16:3790494G>A	cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			748			748	-9.541553	KEEP	3	2	-1	34	45	3	2	-1	7.068967	34	45	0.051282	1	0	0	0	0	1	0	0	0	--	--		0	A			CREBBP_uc002cvw.2_Missense_Mutation_p.R1309W	265	GBM-76-4925-TP	p.R1347W	G	TTCTGGCGCCGCAAAAATTTG	NM_004380	NP_004371	3790494	Q92793	CBP_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	24	4243	-	A	A		Ovarian(90;0.0266)	Missense_Mutation	1347			Cys/His-rich.			
CREBL2	0	broad.mit.edu	GRCh37	12	12765120	12765120	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C			TCGA-19-1390-01	TCGA-19-1390-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000228865.2:c.14A>C	p.Lys5Thr	p.K5T	ENST00000228865	NM_001310.2	5	aAg/aCg	0			1			C	K/T	uc001rap.1	protein_coding	YES	CCDS8651.1			14/363										0	c.(13-15)AAG>ACG			Low_complexity_(Seg):seg,hmmpanther:PTHR21051	cAMP responsive element binding protein-like 2				ENSP00000228865		4-Jan									COSM3398514	4-Jan	.		ENST00000228865	Transcript			cell cycle|signal transduction	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000111269	g.chr12:12765120A>C	2350			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=CRBL2_HUMAN&rb=1&re=53&var=K5T	NA	getma.org/?cm=var&var=hg19,12,12765120,A,C&fts=all	K5T	--	--	1																																			1	1		benign(0.309)	p.K5T	NM_001310	NP_001301		deleterious_low_confidence(0.04)	1	CRBL2_HUMAN	CREBL2	HGNC	O60519	CRBL2_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0503)			1	290	+		Prostate(47;0.0684)	UPI0000070749	5					SNV	CREBL2,missense_variant,p.Lys5Thr,ENST00000228865,NM_001310.2;CREBL2,splice_region_variant,,ENST00000540224,;RP11-180M15.5,downstream_gene_variant,,ENST00000605378,;	uc001rap.1	c.14A>C	295/3754	3	3			c.14A>C						12	SNP	c.(13-15)AAG>ACG	56	56				0	Broad	cAMP responsive element binding protein-like 2			12765120		0.677	ENSG00000111269	3797	g.chr12:12765120A>C	cell cycle|signal transduction	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							156.333655	KEEP	33	26	-1	17	27	33	26	-1	156.650983	17	27	0.566265	1	0	0	0	0	1	0	0	0	--	--		0	C				159	GBM-19-1390-TP	p.K5T	A	GATGACAGTAAGGTAAGTCTT	NM_001310	NP_001301	12765120	O60519	CRBL2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(232;0.0503)	1	290	+	C	C		Prostate(47;0.0684)	Missense_Mutation	5						
CREBZF	58487	broad.mit.edu	GRCh37	11	85375242	85375244	+	inframe_deletion	In_Frame_Del	DEL	CTT	CTT	-			TCGA-06-0129-01	TCGA-06-0129-01	CTT	CTT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000527447.1:c.676_678del	p.Lys226del	p.K226del	ENST00000527447	NM_001039618.2	226	AAG/-	0	-:0.0014		1			-	K/-	uc001pas.2	nonsense_mediated_decay		CCDS41697.1			676-678/1065									ovary(1)	1	c.(676-678)AAGdel			Gene3D:1.20.5.170,Pfam_domain:PF00170,hmmpanther:PTHR14312,hmmpanther:PTHR14312:SF1,Low_complexity_(Seg):seg,Superfamily_domains:SSF57959	HCF-binding transcription factor Zhangfei			-:0.001	ENSP00000434281		2-Jan	1.66E-05					3.15E-05			rs774129737,COSM265400	2-Jan	.		ENST00000490820	Transcript			negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000137504	g.chr11:85375242_85375244delCTT	24905			MODERATE								--	--	1																																OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	CREBZF_uc010rtc.1_RNA|CREBZF_uc010rtd.1_RNA	0,1				p.K226del	NM_001039618	NP_001034707			0,1	ZHANG_HUMAN	CREBZF	HGNC	Q9NS37	ZHANG_HUMAN					1	939_941	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	UPI0000405F55	226			Basic motif.		deletion	CREBZF,inframe_deletion,p.Lys226del,ENST00000527447,NM_001039618.2;CREBZF,inframe_deletion,p.Lys144del,ENST00000398294,;CREBZF,intron_variant,,ENST00000534224,;CREBZF,intron_variant,,ENST00000531515,;CREBZF,inframe_deletion,p.Lys226del,ENST00000490820,;CREBZF,inframe_deletion,p.Lys226del,ENST00000525639,;CREBZF,inframe_deletion,p.Lys152del,ENST00000260058,;CREBZF,upstream_gene_variant,,ENST00000528561,;CREBZF,upstream_gene_variant,,ENST00000527529,;CREBZF,upstream_gene_variant,,ENST00000528889,;	uc001pas.2	c.676_678delAAG	903-905/4329	5	5			c.676_678delAAG						11	DEL	c.(676-678)AAGdel	23	23			ovary(1)	1	Broad	HCF-binding transcription factor Zhangfei			85375244		0.384	ENSG00000137504	3798	g.chr11:85375242_85375244delCTT	negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	NSCLC(172;674 2044 9050 18334 41735)			NSCLC(172;674 2044 9050 18334 41735)																0.41	1	1	0	1	0	0	0	0	0	--	--		0	-	OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	CREBZF_uc010rtc.1_RNA|CREBZF_uc010rtd.1_RNA	15	GBM-06-0129-TP	p.K226del	CTT	TCACGTACTCCTTCTTCTTCAGT	NM_001039618	NP_001034707	85375242	Q9NS37	ZHANG_HUMAN	0			1	939_941	-	-	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	In_Frame_Del	226			Basic motif.			
CREBZF	0	broad.mit.edu	GRCh37	11	85375510	85375510	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01	TCGA-32-4208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000490820.2:c.410C>G	p.Ser137Trp	p.S137W	ENST00000490820		137	tCg/tGg	0			1			C	S/W	uc001pas.2	nonsense_mediated_decay		CCDS41697.1			410/1065									ovary(1)	1	c.(409-411)TCG>TGG			hmmpanther:PTHR14312,hmmpanther:PTHR14312:SF1,Low_complexity_(Seg):seg	HCF-binding transcription factor Zhangfei				ENSP00000434281		2-Jan									COSM3398176	2-Jan	.		ENST00000490820	Transcript			negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000137504	g.chr11:85375510G>C	24905			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=ZHANG_HUMAN&rb=1&re=200&var=S137W	NA	getma.org/?cm=var&var=hg19,11,85375510,G,C&fts=all	S137W	--	--	1																																		CREBZF_uc010rtc.1_RNA|CREBZF_uc010rtd.1_RNA	1			probably_damaging(0.993)	p.S137W	NM_001039618	NP_001034707		deleterious_low_confidence(0)	1	ZHANG_HUMAN	CREBZF	HGNC	Q9NS37	ZHANG_HUMAN					1	673	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	UPI0000405F55	137					SNV	CREBZF,missense_variant,p.Ser137Trp,ENST00000527447,NM_001039618.2;CREBZF,missense_variant,p.Ser55Trp,ENST00000398294,;CREBZF,intron_variant,,ENST00000534224,;CREBZF,intron_variant,,ENST00000531515,;CREBZF,missense_variant,p.Ser137Trp,ENST00000490820,;CREBZF,missense_variant,p.Ser137Trp,ENST00000525639,;CREBZF,missense_variant,p.Ser63Trp,ENST00000260058,;CREBZF,upstream_gene_variant,,ENST00000528561,;CREBZF,upstream_gene_variant,,ENST00000527529,;CREBZF,upstream_gene_variant,,ENST00000528889,;	uc001pas.2	c.410C>G	637/4329	4	4			c.410C>G						11	SNP	c.(409-411)TCG>TGG	35	35			ovary(1)	1	Broad	HCF-binding transcription factor Zhangfei			85375510		0.637	ENSG00000137504	3798	g.chr11:85375510G>C	negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	NSCLC(172;674 2044 9050 18334 41735)			NSCLC(172;674 2044 9050 18334 41735)			2.038173	KEEP	8	3	-1	40	56	8	3	-1	16.813548	40	56	0.075	1	0	0	0	0	1	0	0	0	--	--		0	C			CREBZF_uc010rtc.1_RNA|CREBZF_uc010rtd.1_RNA	243	GBM-32-4208-TP	p.S137W	G	GCCGCTATCCGAGCCTCCGCC	NM_001039618	NP_001034707	85375510	Q9NS37	ZHANG_HUMAN	0			1	673	-	C	C		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	Missense_Mutation	137						
CRELD1	78987	broad.mit.edu	GRCh37	3	9982660	9982660	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01	TCGA-06-0686-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326434.5:c.587G>A	p.Gly196Asp	p.G196D	ENST00000326434	NM_001031717.3	196	gGc/gAc	0			1			A	G/D	uc003bug.2	protein_coding		CCDS2593.1			587/1263									ovary(1)	1	c.(586-588)GGC>GAC			hmmpanther:PTHR24838:SF251,hmmpanther:PTHR24838,PROSITE_patterns:PS01248,Superfamily_domains:SSF57184	cysteine-rich with EGF-like domains 1 isoform 3				ENSP00000373322		10-May									COSM3408938,COSM3408939	10-May	.		ENST00000383811	Transcript	1		cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding	ENSG00000163703	g.chr3:9982660G>A	14630			MODERATE		0.255	neutral	getma.org/?cm=msa&ty=f&p=CREL1_HUMAN&rb=144&re=244&var=G196D	NA	getma.org/?cm=var&var=hg19,3,9982660,G,A&fts=all	G196D	--	--	1																																		CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_Missense_Mutation_p.G196D|CRELD1_uc003buh.2_Missense_Mutation_p.G196D|CRELD1_uc003bui.2_Missense_Mutation_p.G196D|CRELD1_uc003buj.2_RNA	1,1			benign(0.311)	p.G196D	NM_001077415	NP_001070883		tolerated(0.5)	1,1	CREL1_HUMAN	CRELD1	HGNC	Q96HD1	CREL1_HUMAN					6	705	+			UPI000013E2E5	196			Extracellular (Potential).		SNV	CRELD1,missense_variant,p.Gly196Asp,ENST00000383811,NM_015513.4;CRELD1,missense_variant,p.Gly196Asp,ENST00000326434,NM_001031717.3;CRELD1,missense_variant,p.Gly196Asp,ENST00000452070,NM_001077415.2;CRELD1,missense_variant,p.Gly196Asp,ENST00000397170,;PRRT3,downstream_gene_variant,,ENST00000412055,NM_207351.3;CRELD1,upstream_gene_variant,,ENST00000435417,;RP11-1020A11.1,downstream_gene_variant,,ENST00000602411,;CRELD1,upstream_gene_variant,,ENST00000489674,;CRELD1,3_prime_UTR_variant,,ENST00000414117,;PRRT3,downstream_gene_variant,,ENST00000295984,;CRELD1,downstream_gene_variant,,ENST00000465716,;CRELD1,upstream_gene_variant,,ENST00000482691,;CRELD1,upstream_gene_variant,,ENST00000467713,;	uc003bug.2	c.587G>A	1186/2696	1	1			c.587G>A						3	SNP	c.(586-588)GGC>GAC	62	62			ovary(1)	1	Broad	cysteine-rich with EGF-like domains 1 isoform 3			9982660		0.642	ENSG00000163703	3801	g.chr3:9982660G>A	cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding							11.615725	KEEP	8	5	-1	79	43	8	5	-1	24.384925	79	43	0.12766	1	0	0	0	0	1	0	0	0	--	--		0	A			CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_Missense_Mutation_p.G196D|CRELD1_uc003buh.2_Missense_Mutation_p.G196D|CRELD1_uc003bui.2_Missense_Mutation_p.G196D|CRELD1_uc003buj.2_RNA	64	GBM-06-0686-TP	p.G196D	G	GGCCAGTGTGGCCTTGGCTAC	NM_001077415	NP_001070883	9982660	Q96HD1	CREL1_HUMAN	0			6	705	+	A	A			Missense_Mutation	196			Extracellular (Potential).			
CRELD1	0	broad.mit.edu	GRCh37	3	9976243	9976243	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-81-5910-01	TCGA-81-5910-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000383811.3:c.121C>A	p.Pro41Thr	p.P41T	ENST00000383811	NM_015513.4	41	Cct/Act	0			1			A	P/T	uc003bug.2	protein_coding		CCDS2593.1			121/1263									ovary(1)	1	c.(121-123)CCT>ACT			Low_complexity_(Seg):seg,hmmpanther:PTHR24838:SF251,hmmpanther:PTHR24838	cysteine-rich with EGF-like domains 1 isoform 3				ENSP00000373322		10-Jan									COSM3408936,COSM3408937	10-Jan	.		ENST00000383811	Transcript	1		cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding	ENSG00000163703	g.chr3:9976243C>A	14630			MODERATE		-1.01	neutral	getma.org/?cm=msa&ty=f&p=CREL1_HUMAN&rb=10&re=72&var=P41T	NA	getma.org/?cm=var&var=hg19,3,9976243,C,A&fts=all	P41T	--	--	1																																		CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_Missense_Mutation_p.P41T|CRELD1_uc003buh.2_Missense_Mutation_p.P41T|CRELD1_uc003bui.2_Missense_Mutation_p.P41T|CRELD1_uc003buj.2_RNA	1,1			benign(0)	p.P41T	NM_001077415	NP_001070883		tolerated(0.75)	1,1	CREL1_HUMAN	CRELD1	HGNC	Q96HD1	CREL1_HUMAN					2	239	+			UPI000013E2E5	41			Pro-rich.|Extracellular (Potential).		SNV	CRELD1,missense_variant,p.Pro41Thr,ENST00000383811,NM_015513.4;CRELD1,missense_variant,p.Pro41Thr,ENST00000326434,NM_001031717.3;CRELD1,missense_variant,p.Pro41Thr,ENST00000452070,NM_001077415.2;CRELD1,missense_variant,p.Pro41Thr,ENST00000397170,;IL17RC,downstream_gene_variant,,ENST00000295981,NM_153461.3;IL17RC,downstream_gene_variant,,ENST00000403601,NM_153460.3;IL17RC,downstream_gene_variant,,ENST00000383812,NM_032732.5;IL17RC,downstream_gene_variant,,ENST00000455057,NM_001203265.1;IL17RC,downstream_gene_variant,,ENST00000413608,NM_001203263.1,NM_001203264.1;IL17RC,downstream_gene_variant,,ENST00000416074,;IL17RC,downstream_gene_variant,,ENST00000436503,;RP11-1020A11.1,upstream_gene_variant,,ENST00000602411,;IL17RC,downstream_gene_variant,,ENST00000498214,;CRELD1,missense_variant,p.Pro41Thr,ENST00000414117,;CRELD1,non_coding_transcript_exon_variant,,ENST00000465716,;CRELD1,non_coding_transcript_exon_variant,,ENST00000491527,;IL17RC,downstream_gene_variant,,ENST00000466046,;IL17RC,downstream_gene_variant,,ENST00000494365,;IL17RC,downstream_gene_variant,,ENST00000483582,;IL17RC,downstream_gene_variant,,ENST00000451271,;IL17RC,downstream_gene_variant,,ENST00000451231,;IL17RC,downstream_gene_variant,,ENST00000497387,;IL17RC,downstream_gene_variant,,ENST00000412901,;IL17RC,downstream_gene_variant,,ENST00000461995,;IL17RC,downstream_gene_variant,,ENST00000464406,;IL17RC,downstream_gene_variant,,ENST00000465794,;IL17RC,downstream_gene_variant,,ENST00000466712,;	uc003bug.2	c.121C>A	720/2696	1	1			c.121C>A						3	SNP	c.(121-123)CCT>ACT	52	52			ovary(1)	1	Broad	cysteine-rich with EGF-like domains 1 isoform 3			9976243		0.582	ENSG00000163703	3801	g.chr3:9976243C>A	cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding							29.474829	KEEP	4	9	0.692307692	10	17	4	9	0.692307692	30.494969	10	17	0.324324	1	0	0	0	0	1	0	0	0	--	--		0	A			CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_Missense_Mutation_p.P41T|CRELD1_uc003buh.2_Missense_Mutation_p.P41T|CRELD1_uc003bui.2_Missense_Mutation_p.P41T|CRELD1_uc003buj.2_RNA	289	GBM-81-5910-TP	p.P41T	C	TTCTCCCCCGCCTCAGCCCCA	NM_001077415	NP_001070883	9976243	Q96HD1	CREL1_HUMAN	0			2	239	+	A	A			Missense_Mutation	41			Pro-rich.|Extracellular (Potential).			
CRHR2	1395	broad.mit.edu	GRCh37	7	30693212	30693212	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5412-01	TCGA-06-5412-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000348438.4:c.1181G>A	p.Arg394His	p.R394H	ENST00000348438	NM_001202475.1	394	cGc/cAc	0		T:0	1	T:0.0014		T	R/H	uc003tbn.2	protein_coding		CCDS5429.1			1100/1236									lung(2)|ovary(1)|skin(1)	4	c.(1099-1101)CGC>CAC			hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF274,Superfamily_domains:SSF81321	corticotropin releasing hormone receptor 2		T:0.002		ENSP00000418722	T:0	12-Dec	0.000115		0.000522	0.000818				6.82E-05	rs199502493,COSM150254,COSM3028312,COSM3028311	12-Dec	common_variant		ENST00000471646	Transcript		T:0.0006	G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	ENSG00000106113	g.chr7:30693212C>T	2358			MODERATE		2.67	medium	getma.org/?cm=msa&ty=f&p=CRFR2_HUMAN&rb=356&re=411&var=R367H	NA	getma.org/?cm=var&var=hg19,7,30693212,C,T&fts=all	R367H	--	--	1																																		CRHR2_uc010kvw.1_3'UTR|CRHR2_uc010kvx.1_Missense_Mutation_p.R366H|CRHR2_uc010kvy.1_Missense_Mutation_p.R203H|CRHR2_uc003tbo.2_Missense_Mutation_p.R353H|CRHR2_uc003tbp.2_Missense_Mutation_p.R394H	0,1,1,1			possibly_damaging(0.73)	p.R367H	NM_001883	NP_001874	T:0	deleterious(0)	0,1,1,1	CRFR2_HUMAN	CRHR2	HGNC	Q13324	CRFR2_HUMAN					12	1344	-			UPI0000061EDF	367			Cytoplasmic (Potential).		SNV	CRHR2,missense_variant,p.Arg367His,ENST00000471646,NM_001202483.1,NM_001202482.1,NM_001883.4;CRHR2,missense_variant,p.Arg394His,ENST00000348438,NM_001202475.1,NM_001202481.1;CRHR2,missense_variant,p.Arg353His,ENST00000341843,;CRHR2,3_prime_UTR_variant,,ENST00000506074,;CRHR2,3_prime_UTR_variant,,ENST00000452278,;	uc003tbn.2	c.1100G>A	1518/2530	2	2			c.1100G>A						7	SNP	c.(1099-1101)CGC>CAC	32	32			lung(2)|ovary(1)|skin(1)	4	Broad	corticotropin releasing hormone receptor 2			30693212		0.642	ENSG00000106113	3807	g.chr7:30693212C>T	G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding							18.423173	KEEP	6	11	-1	70	58	6	11	-1	38.197578	70	58	0.116788	1	0	0	0	0	1	0	0	0	--	--		0	T			CRHR2_uc010kvw.1_3'UTR|CRHR2_uc010kvx.1_Missense_Mutation_p.R366H|CRHR2_uc010kvy.1_Missense_Mutation_p.R203H|CRHR2_uc003tbo.2_Missense_Mutation_p.R353H|CRHR2_uc003tbp.2_Missense_Mutation_p.R394H	95	GBM-06-5412-TP	p.R367H	C	CACGGCTGAGCGCACCTGTGG	NM_001883	NP_001874	30693212	Q13324	CRFR2_HUMAN	0			12	1344	-	T	T			Missense_Mutation	367			Cytoplasmic (Potential).			
CRHR2	0	broad.mit.edu	GRCh37	7	30695576	30695576	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000471646.1:c.884G>A	p.Arg295His	p.R295H	ENST00000471646	NM_001202483.1	295	cGc/cAc	0			1			T	R/H	uc003tbn.2	protein_coding		CCDS5429.1			884/1236									lung(2)|ovary(1)|skin(1)	4	c.(883-885)CGC>CAC			Pfam_domain:PF00002,Prints_domain:PR01279,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF274,Superfamily_domains:SSF81321	corticotropin releasing hormone receptor 2				ENSP00000418722		12-Sep	1.65E-05	9.61E-05						6.06E-05	rs776448334,COSM3411975,COSM3411976,COSM3411974	12-Sep	.		ENST00000471646	Transcript			G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	ENSG00000106113	g.chr7:30695576C>T	2358			MODERATE		2.36	medium	getma.org/?cm=msa&ty=f&p=CRFR2_HUMAN&rb=113&re=355&var=R295H	NA	getma.org/?cm=var&var=hg19,7,30695576,C,T&fts=all	R295H	--	--	1																																		CRHR2_uc010kvw.1_Missense_Mutation_p.R295H|CRHR2_uc010kvx.1_Missense_Mutation_p.R294H|CRHR2_uc010kvy.1_Missense_Mutation_p.R131H|CRHR2_uc003tbo.2_Missense_Mutation_p.R281H|CRHR2_uc003tbp.2_Missense_Mutation_p.R322H	0,1,1,1			possibly_damaging(0.896)	p.R295H	NM_001883	NP_001874		deleterious(0.04)	0,1,1,1	CRFR2_HUMAN	CRHR2	HGNC	Q13324	CRFR2_HUMAN					9	1128	-			UPI0000061EDF	295			Cytoplasmic (Potential).		SNV	CRHR2,missense_variant,p.Arg295His,ENST00000471646,NM_001202483.1,NM_001202482.1,NM_001883.4;CRHR2,missense_variant,p.Arg322His,ENST00000348438,NM_001202475.1,NM_001202481.1;CRHR2,missense_variant,p.Arg295His,ENST00000506074,;CRHR2,missense_variant,p.Arg281His,ENST00000341843,;CRHR2,3_prime_UTR_variant,,ENST00000452278,;	uc003tbn.2	c.884G>A	1302/2530	2	2			c.884G>A						7	SNP	c.(883-885)CGC>CAC	34	34			lung(2)|ovary(1)|skin(1)	4	Broad	corticotropin releasing hormone receptor 2			30695576		0.552	ENSG00000106113	3807	g.chr7:30695576C>T	G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding							67.872526	KEEP	18	26	-1	100	105	18	26	-1	90.547507	100	105	0.166667	1	0	0	0	0	1	0	0	0	--	--		0	T			CRHR2_uc010kvw.1_Missense_Mutation_p.R295H|CRHR2_uc010kvx.1_Missense_Mutation_p.R294H|CRHR2_uc010kvy.1_Missense_Mutation_p.R131H|CRHR2_uc003tbo.2_Missense_Mutation_p.R281H|CRHR2_uc003tbp.2_Missense_Mutation_p.R322H	229	GBM-32-1977-TP	p.R295H	C	GGTGGACGCGCGTAACTTTGT	NM_001883	NP_001874	30695576	Q13324	CRFR2_HUMAN	0			9	1128	-	T	T			Missense_Mutation	295			Cytoplasmic (Potential).			
CRIM1	51232	broad.mit.edu	GRCh37	2	36740894	36740894	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01	TCGA-06-0649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000280527.2:c.1976G>A	p.Cys659Tyr	p.C659Y	ENST00000280527	NM_016441.2	659	tGc/tAc	0			1			A	C/Y	uc002rpd.2	protein_coding	YES	CCDS1783.1			1976/3111									ovary(2)|skin(1)	3	c.(1975-1977)TGC>TAC			PROSITE_profiles:PS50184,hmmpanther:PTHR11339,PROSITE_patterns:PS01208,Pfam_domain:PF00093,SMART_domains:SM00214,Superfamily_domains:SSF57603	cysteine-rich motor neuron 1 precursor				ENSP00000280527		17-Nov									COSM3407845	17-Nov	.		ENST00000280527	Transcript			nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	ENSG00000150938	g.chr2:36740894G>A	2359			MODERATE		4.095	high	getma.org/?cm=msa&ty=f&p=CRIM1_HUMAN&rb=608&re=662&var=C659Y	NA	getma.org/?cm=var&var=hg19,2,36740894,G,A&fts=all	C659Y	--	--	1																																			1	1		probably_damaging(0.996)	p.C659Y	NM_016441	NP_057525		deleterious(0)	1	CRIM1_HUMAN	CRIM1	HGNC	Q9NZV1	CRIM1_HUMAN			Q53TR0_HUMAN,Q53TH9_HUMAN,Q4ZG85_HUMAN,B4DUW0_HUMAN		11	2015	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	UPI000004C628	659			VWFC 3.|Extracellular (Potential).		SNV	CRIM1,missense_variant,p.Cys659Tyr,ENST00000280527,NM_016441.2;CRIM1,missense_variant,p.Cys21Tyr,ENST00000413985,;RP11-78I14.1,upstream_gene_variant,,ENST00000609765,;	uc002rpd.2	c.1976G>A	2343/5912	2	2			c.1976G>A						2	SNP	c.(1975-1977)TGC>TAC	33	33			ovary(2)|skin(1)	3	Broad	cysteine-rich motor neuron 1 precursor			36740894		0.388	ENSG00000150938	3808	g.chr2:36740894G>A	nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity							2.672895	KEEP	1	3	-1	16	18	1	3	-1	7.079588	16	18	0.125	1	0	0	0	0	1	0	0	0	--	--		0	A				62	GBM-06-0649-TP	p.C659Y	G	GGACAGTGCTGCCCATCATGT	NM_016441	NP_057525	36740894	Q9NZV1	CRIM1_HUMAN	0			11	2015	+	A	A		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	Missense_Mutation	659			VWFC 3.|Extracellular (Potential).			
CRIP1	1396	broad.mit.edu	GRCh37	14	105954816	105954816	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330233.7:c.202C>T	p.Arg68Trp	p.R68W	ENST00000330233		68	Cgg/Tgg	0			1			T	R/W	uc001yri.3	protein_coding	YES	CCDS10004.1			202/234										0	c.(202-204)CGG>TGG			Gene3D:2.10.110.10,hmmpanther:PTHR24208,Superfamily_domains:SSF57716	cysteine-rich protein 1 (intestinal)				ENSP00000332449		5-Apr	2.47E-05		8.74E-05			1.57E-05		6.86E-05	rs782615467,COSM2149761	5-Apr	.		ENST00000330233	Transcript			cell proliferation	cytoplasm	zinc ion binding	ENSG00000213145	g.chr14:105954816C>T	2360			MODERATE								--	--	1																																		C14orf80_uc001yrj.2_5'Flank|C14orf80_uc001yrk.2_5'Flank|C14orf80_uc001yrn.2_5'Flank|C14orf80_uc001yro.2_5'Flank|C14orf80_uc001yrm.2_5'Flank	0,1	1		possibly_damaging(0.453)	p.R68W	NM_001311	NP_001302		tolerated(0.18)	0,1	CRIP1_HUMAN	CRIP1	HGNC	P50238	CRIP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)			5	316	+		Melanoma(154;0.226)	UPI0000044940	68			Gly-rich.		SNV	CRIP1,missense_variant,p.Arg68Trp,ENST00000330233,;CRIP1,missense_variant,p.Arg68Trp,ENST00000409393,;CRIP1,missense_variant,p.Arg68Trp,ENST00000392531,NM_001311.4;C14orf80,upstream_gene_variant,,ENST00000329886,NM_001198983.1;C14orf80,upstream_gene_variant,,ENST00000392523,;C14orf80,upstream_gene_variant,,ENST00000392522,NM_001134875.1;C14orf80,upstream_gene_variant,,ENST00000354560,NM_001134876.1;C14orf80,upstream_gene_variant,,ENST00000392527,NM_001134877.1;C14orf80,upstream_gene_variant,,ENST00000334656,;C14orf80,upstream_gene_variant,,ENST00000432805,;C14orf80,upstream_gene_variant,,ENST00000450383,;C14orf80,upstream_gene_variant,,ENST00000443229,;C14orf80,upstream_gene_variant,,ENST00000455454,;C14orf80,upstream_gene_variant,,ENST00000421892,;C14orf80,upstream_gene_variant,,ENST00000427614,;C14orf80,upstream_gene_variant,,ENST00000451719,;C14orf80,upstream_gene_variant,,ENST00000551054,;CRIP1,missense_variant,p.Arg37Trp,ENST00000551180,;CRIP1,missense_variant,p.Arg68Trp,ENST00000477724,;CRIP1,missense_variant,p.Arg37Trp,ENST00000550554,;CRIP1,missense_variant,p.Arg37Trp,ENST00000547184,;CRIP1,missense_variant,p.Arg40Trp,ENST00000553228,;CRIP1,non_coding_transcript_exon_variant,,ENST00000496700,;CRIP1,non_coding_transcript_exon_variant,,ENST00000460900,;CRIP1,non_coding_transcript_exon_variant,,ENST00000461556,;CRIP1,non_coding_transcript_exon_variant,,ENST00000547940,;C14orf80,upstream_gene_variant,,ENST00000548920,;C14orf80,upstream_gene_variant,,ENST00000546536,;C14orf80,upstream_gene_variant,,ENST00000463869,;C14orf80,upstream_gene_variant,,ENST00000460959,;	uc001yri.3	c.202C>T	1145/1311	1	1			c.202C>T						14	SNP	c.(202-204)CGG>TGG	1	1				0	Broad	cysteine-rich protein 1 (intestinal)			105954816		0.547	ENSG00000213145	3809	g.chr14:105954816C>T	cell proliferation	cytoplasm	zinc ion binding							43.521682	KEEP	12	12	-1	39	46	12	12	-1	50.911039	39	46	0.214286	1	0	0	0	0	1	0	0	0	--	--		0	T			C14orf80_uc001yrj.2_5'Flank|C14orf80_uc001yrk.2_5'Flank|C14orf80_uc001yrn.2_5'Flank|C14orf80_uc001yro.2_5'Flank|C14orf80_uc001yrm.2_5'Flank	23	GBM-06-0145-TP	p.R68W	C	AGGCTTTGGGCGGGGCGGAGC	NM_001311	NP_001302	105954816	P50238	CRIP1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)	5	316	+	T	T		Melanoma(154;0.226)	Missense_Mutation	68			Gly-rich.			
CRIPAK	285464	broad.mit.edu	GRCh37	4	1389456	1389457	+	frameshift_variant	Frame_Shift_Del	DEL	CA	CA	-			TCGA-06-0646-01	TCGA-06-0646-01	CA	CA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324803.4:c.1162_1163del	p.Thr388ValfsTer19	p.T388Vfs*19	ENST00000324803	NM_175918.3	386	tCA/t	0			1			-	S/X	uc003gdf.2	protein_coding	YES	CCDS3349.1			1157-1158/1341										0	c.(1156-1158)TCAfs			SMART_domains:SM00508	cysteine-rich PAK1 inhibitor				ENSP00000323978		1-Jan									rs749873551	1-Jan	.		ENST00000324803	Transcript			ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	ENSG00000179979	g.chr4:1389456_1389457delCA	26619	5		HIGH								--	--	1																																				1			p.S386fs	NM_175918	NP_787114				CRPAK_HUMAN	CRIPAK	HGNC	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)				1	4117_4118	+			UPI0000070390	386			10.|Interaction with PAK1.		deletion	CRIPAK,frameshift_variant,p.Thr388ValfsTer19,ENST00000324803,NM_175918.3;	uc003gdf.2	c.1157_1158delCA	4117-4118/4441	5	5			c.1157_1158delCA						4	DEL	c.(1156-1158)TCAfs	22	22				0	Broad	cysteine-rich PAK1 inhibitor			1389457		0.639	ENSG00000179979	3812	g.chr4:1389456_1389457delCA	ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding																				0.02	1	1	0	1	0	0	0	0	0	--	--		0	-				60	GBM-06-0646-TP	p.S386fs	CA	CCTGCCTGCTCACACACGTGCC	NM_175918	NP_787114	1389456	Q8N1N5	CRPAK_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	4117_4118	+	-	-			Frame_Shift_Del	386			10.|Interaction with PAK1.			
CRIPAK	0	broad.mit.edu	GRCh37	4	1389373	1389373	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-27-2526-01	TCGA-27-2526-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324803.4:c.1074T>C	p.His358=	p.H358=	ENST00000324803	NM_175918.3	358	caT/caC	0			1			C	H	uc003gdf.2	protein_coding	YES	CCDS3349.1			1074/1341										0	c.(1072-1074)CAT>CAC				cysteine-rich PAK1 inhibitor				ENSP00000323978		1-Jan									COSM3748252	1-Jan	.		ENST00000324803	Transcript			ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	ENSG00000179979	g.chr4:1389373T>C	26619			LOW								--	--	1																																			1	1			p.H358H	NM_175918	NP_787114			1	CRPAK_HUMAN	CRIPAK	HGNC	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)				1	4034	+			UPI0000070390	358	H -> Y (in Ref. 1; BAC03741).				SNV	CRIPAK,synonymous_variant,p.=,ENST00000324803,NM_175918.3;	uc003gdf.2	c.1074T>C	4034/4441	4	4			c.1074T>C						4	SNP	c.(1072-1074)CAT>CAC	33	33				0	Broad	cysteine-rich PAK1 inhibitor			1389373		0.657	ENSG00000179979	3812	g.chr4:1389373T>C	ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding							-36.306019	KEEP	11	12	-1	188	158	11	12	-1	13.526624	188	158	0.037209	1	0	0	0	0	0	0	1	0	--	--		0	C				203	GBM-27-2526-TP	p.H358H	T	CACGTGCCCATGTGGAGTGCC	NM_175918	NP_787114	1389373	Q8N1N5	CRPAK_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	4034	+	C	C			Silent	358	H -> Y (in Ref. 1; BAC03741).					
CRISP3	0	broad.mit.edu	GRCh37	6	49696554	49696554	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0618-01	TCGA-12-0618-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000433368.2:c.696C>T	p.Tyr232=	p.Y232=	ENST00000433368	NM_001190986.1	232	taC/taT	0	A:0.0002	A:0	1	A:0.0014		A	Y	uc003ozs.2	protein_coding	YES	CCDS55019.1			696/807									skin(2)	2	c.(625-627)TAC>TAT			Superfamily_domains:SSF57546,Pfam_domain:PF08562,hmmpanther:PTHR10334,hmmpanther:PTHR10334:SF162,PROSITE_profiles:PS51670	cysteine-rich secretory protein 3 precursor		A:0	A:0	ENSP00000389026	A:0	8-Aug	0.000107	0.000192	8.65E-05	0.000231		1.50E-05		0.000425	rs374288697,COSM2153621,COSM3411164	8-Aug	common_variant		ENST00000433368	Transcript		A:0.0004	innate immune response	proteinaceous extracellular matrix|specific granule		ENSG00000096006	g.chr6:49696554G>A	16904			LOW								--	--	1																																			0,1,1	1			p.Y209Y	NM_006061	NP_006052	A:0.001		0,1,1	CRIS3_HUMAN	CRISP3	HGNC	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		J3KQX0_HUMAN,I3L0A1_HUMAN		8	642	-	Lung NSC(77;0.0161)		UPI0001DBC27E	209					SNV	CRISP3,synonymous_variant,p.=,ENST00000433368,NM_001190986.1;CRISP3,synonymous_variant,p.=,ENST00000263045,NM_006061.2;CRISP3,synonymous_variant,p.=,ENST00000393666,;CRISP3,synonymous_variant,p.=,ENST00000423399,;CRISP3,synonymous_variant,p.=,ENST00000371159,;CRISP3,downstream_gene_variant,,ENST00000354620,;	uc003ozs.2	c.627C>T	766/2205	2	2			c.627C>T						6	SNP	c.(625-627)TAC>TAT	41	41			skin(2)	2	Broad	cysteine-rich secretory protein 3 precursor			49696554		0.358	ENSG00000096006	3816	g.chr6:49696554G>A	innate immune response	proteinaceous extracellular matrix|specific granule								88.394287	KEEP	20	15	-1	27	36	20	15	-1	90.437772	27	36	0.340659	1	0	0	0	0	0	0	1	0	--	--		0	A				119	GBM-12-0618-TP	p.Y209Y	G	AGAGATCTTCGTACTTGCAAC	NM_006061	NP_006052	49696554	P54108	CRIS3_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		8	642	-	A	A	Lung NSC(77;0.0161)		Silent	209						
CRISP3	0	broad.mit.edu	GRCh37	6	49700907	49700907	+	splice_donor_variant	Splice_Site	SNP	C	C	T			TCGA-32-2495-01	TCGA-32-2495-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000433368.2:c.590+1G>A		p.X197_splice	ENST00000433368	NM_001190986.1			0			1			T		uc003ozs.2	protein_coding	YES	CCDS55019.1			590/807									skin(2)	2	c.e6+1				cysteine-rich secretory protein 3 precursor				ENSP00000389026			2.47E-05		0.000173			1.51E-05			rs762333204,COSM484181,COSM3411165		.		ENST00000433368	Transcript			innate immune response	proteinaceous extracellular matrix|specific granule		ENSG00000096006	g.chr6:49700907C>T	16904			HIGH	7-Jun							--	--	1																																			0,1,1	1			p.A174_splice	NM_006061	NP_006052			0,1,1	CRIS3_HUMAN	CRISP3	HGNC	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		J3KQX0_HUMAN,I3L0A1_HUMAN		6	536	-	Lung NSC(77;0.0161)		UPI0001DBC27E						SNV	CRISP3,splice_donor_variant,,ENST00000433368,NM_001190986.1;CRISP3,splice_donor_variant,,ENST00000263045,NM_006061.2;CRISP3,splice_donor_variant,,ENST00000393666,;CRISP3,splice_donor_variant,,ENST00000423399,;CRISP3,splice_donor_variant,,ENST00000371159,;CRISP3,downstream_gene_variant,,ENST00000354620,;	uc003ozs.2	c.521_splice	-/2205	5	2			c.521_splice						6	SNP	c.e6+1	24	24			skin(2)	2	Broad	cysteine-rich secretory protein 3 precursor			49700907		0.299	ENSG00000096006	3816	g.chr6:49700907C>T	innate immune response	proteinaceous extracellular matrix|specific granule								311.307472	KEEP	63	45	-1	23	13	63	45	-1	319.492364	23	13	0.770492	1	0	0	0	0	0	0	0	1	--	--		0	T				237	GBM-32-2495-TP	p.A174_splice	C	TATATACTTACGCAGGACAAT	NM_006061	NP_006052	49700907	P54108	CRIS3_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		6	536	-	T	T	Lung NSC(77;0.0161)		Splice_Site							
CRKL	0	broad.mit.edu	GRCh37	22	21272527	21272527	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2638-01	TCGA-32-2638-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354336.3:c.305C>T	p.Ala102Val	p.A102V	ENST00000354336	NM_005207.3	102	gCg/gTg	0			1			T	A/V	uc002ztf.2	protein_coding	YES	CCDS13785.1			305/912										0	c.(304-306)GCG>GTG			PROSITE_profiles:PS50001,hmmpanther:PTHR19969,hmmpanther:PTHR19969:SF9,Gene3D:3.30.505.10,Superfamily_domains:SSF55550	v-crk sarcoma virus CT10 oncogene homolog				ENSP00000346300		3-Jan									COSM3405524	3-Jan	.		ENST00000354336	Transcript	1		JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity	ENSG00000099942	g.chr22:21272527C>T	2363			MODERATE		-0.99	neutral	getma.org/?cm=msa&ty=f&p=CRKL_HUMAN&rb=14&re=102&var=A102V	getma.org/pdb.php?prot=CRKL_HUMAN&from=14&to=102&var=A102V	getma.org/?cm=var&var=hg19,22,21272527,C,T&fts=all	A102V	--	--	1																																		CRKL_uc002ztg.1_RNA	1	1		benign(0.005)	p.A102V	NM_005207	NP_005198		tolerated(0.99)	1	CRKL_HUMAN	CRKL	HGNC	P46109	CRKL_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)				1	814	+	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	UPI000000DA57	102			SH2.		SNV	CRKL,missense_variant,p.Ala102Val,ENST00000354336,NM_005207.3;CRKL,missense_variant,p.Ala102Val,ENST00000411769,;	uc002ztf.2	c.305C>T	814/5325	2	2			c.305C>T						22	SNP	c.(304-306)GCG>GTG	39	39				0	Broad	v-crk sarcoma virus CT10 oncogene homolog			21272527		0.607	ENSG00000099942	3820	g.chr22:21272527C>T	JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity	Pancreas(85;3 1441 23889 42519 42763)		67	Pancreas(85;3 1441 23889 42519 42763)		67	1.317232	KEEP	0	3	-1	21	15	0	3	-1	6.869146	21	15	0.090909	1	0	0	0	0	1	0	0	0	--	--		0	T			CRKL_uc002ztg.1_RNA	242	GBM-32-2638-TP	p.A102V	C	ATCGAGCCTGCGCCCAGGTAC	NM_005207	NP_005198	21272527	P46109	CRKL_HUMAN	0	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)		1	814	+	T	T	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	Missense_Mutation	102			SH2.			
CRLF1	9244	broad.mit.edu	GRCh37	19	18710416	18710416	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs146027258	byFrequency	TCGA-06-0168-01	TCGA-06-0168-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392386.3:c.356G>A	p.Arg119His	p.R119H	ENST00000392386	NM_004750.4	119	cGt/cAt	0	T:0.0002	T:0	1	T:0		T	R/H	uc010ebt.1	protein_coding	YES	CCDS32962.1			356/1269								p.R119H(1)	central_nervous_system(1)	1	c.(355-357)CGT>CAT			Gene3D:2.60.40.10,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF26,Superfamily_domains:SSF48726	cytokine receptor-like factor 1 precursor		T:0	T:0.0014	ENSP00000376188	T:0.001	9-Feb	0.00124		0.000261	0.000117	0.00444	0.00182	0.00117		rs146027258,COSM42823	9-Feb	common_variant		ENST00000392386	Transcript	1	T:0.0002	negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	ENSG00000006016	g.chr19:18710416C>T	2364			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=CRLF1_HUMAN&rb=38&re=131&var=R119H	NA	getma.org/?cm=var&var=hg19,19,18710416,C,T&fts=all	R119H	--	--	1																																			0,1	1		benign(0.003)	p.R119H	NM_004750	NP_004741	T:0	tolerated(0.19)	0,1	CRLF1_HUMAN	CRLF1	HGNC	O75462	CRLF1_HUMAN					2	550	-			UPI000000DA9E	119			Ig-like C2-type.		SNV	CRLF1,missense_variant,p.Arg119His,ENST00000392386,NM_004750.4;CRLF1,upstream_gene_variant,,ENST00000597131,;CRLF1,downstream_gene_variant,,ENST00000593286,;	uc010ebt.1	c.356G>A	550/1792	1	1			c.356G>A						19	SNP	c.(355-357)CGT>CAT	7	7		p.R119H(1)	central_nervous_system(1)	1	Broad	cytokine receptor-like factor 1 precursor			18710416		0.652	ENSG00000006016	3821	g.chr19:18710416C>T	negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity							31.714976	KEEP	10	12	-1	20	29	10	12	-1	32.78765	20	29	0.314286	1	0	0	0	0	1	0	0	0	--	--		0	T				33	GBM-06-0168-TP	p.R119H	C	GCTGCCGTCACGGGCGTGGCA	NM_004750	NP_004741	18710416	O75462	CRLF1_HUMAN	0			2	550	-	T	T			Missense_Mutation	119			Ig-like C2-type.			
CRLF3	51379		GRCh37	17	29119557	29119557	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000324238.6:c.860G>C	p.Ser287Thr	p.S287T	ENST00000324238	NM_015986.3	287	aGc/aCc	0																																																																																																																																																																																																																																												
CRLS1	0	broad.mit.edu	GRCh37	20	5996124	5996124	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-32-4210-01	TCGA-32-4210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378863.4:c.562G>T	p.Asp188Tyr	p.D188Y	ENST00000378863	NM_019095.4	188	Gat/Tat	0			1			T	D/Y	uc002wmn.3	protein_coding	YES	CCDS13096.1			562/906										0	c.(562-564)GAT>TAT			hmmpanther:PTHR14269,Pfam_domain:PF01066	cardiolipin synthase 1 isoform 1				ENSP00000368140		7-Mar									COSM3405240	7-Mar	.		ENST00000378863	Transcript			phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphotransferase activity, for other substituted phosphate groups	ENSG00000088766	g.chr20:5996124G>T	16148			MODERATE		0.68	neutral	getma.org/?cm=msa&ty=f&p=CRLS1_HUMAN&rb=106&re=287&var=D188Y	NA	getma.org/?cm=var&var=hg19,20,5996124,G,T&fts=all	D188Y	--	--	1																																		CRLS1_uc010gbq.2_RNA|CRLS1_uc010gbr.2_Missense_Mutation_p.D89Y|CRLS1_uc010gbs.1_Missense_Mutation_p.D77Y	1	1		possibly_damaging(0.611)	p.D188Y	NM_019095	NP_061968		deleterious(0.01)	1	CRLS1_HUMAN	CRLS1	HGNC	Q9UJA2	CRLS1_HUMAN					3	716	+			UPI000003B001	188					SNV	CRLS1,missense_variant,p.Asp188Tyr,ENST00000378863,NM_019095.4;CRLS1,missense_variant,p.Asp188Tyr,ENST00000452938,;CRLS1,missense_variant,p.Asp89Tyr,ENST00000378868,NM_001127458.1;CRLS1,non_coding_transcript_exon_variant,,ENST00000489345,;CRLS1,non_coding_transcript_exon_variant,,ENST00000609154,;	uc002wmn.3	c.562G>T	719/3958	1	1			c.562G>T						20	SNP	c.(562-564)GAT>TAT	8	8				0	Broad	cardiolipin synthase 1 isoform 1			5996124		0.383	ENSG00000088766	3823	g.chr20:5996124G>T	phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphotransferase activity, for other substituted phosphate groups							37.890047	KEEP	6	18	0.25	57	63	6	18	0.25	50.729795	57	63	0.169355	1	0	0	0	0	1	0	0	0	--	--		0	T			CRLS1_uc010gbq.2_RNA|CRLS1_uc010gbr.2_Missense_Mutation_p.D89Y|CRLS1_uc010gbs.1_Missense_Mutation_p.D77Y	245	GBM-32-4210-TP	p.D188Y	G	GACCTATGCAGATCTTATTCC	NM_019095	NP_061968	5996124	Q9UJA2	CRLS1_HUMAN	0			3	716	+	T	T			Missense_Mutation	188						
CRNKL1	0	broad.mit.edu	GRCh37	20	20033098	20033098	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6285-01	TCGA-76-6285-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377340.2:c.372G>A	p.Pro124=	p.P124=	ENST00000377340	NM_016652.5	124	ccG/ccA	0			1			T	P	uc002wrs.2	protein_coding	YES	CCDS33446.1			372/2547									ovary(2)|large_intestine(1)	3	c.(370-372)CCG>CCA				crooked neck-like 1 protein				ENSP00000366557		15-Feb	8.24E-06					1.50E-05			rs774052514,COSM3404964	15-Feb	.		ENST00000377340	Transcript			spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	ENSG00000101343	g.chr20:20033098C>T	15762			LOW								--	--	1																																		C20orf26_uc010gcw.1_5'Flank|C20orf26_uc010zse.1_5'Flank|C20orf26_uc002wru.2_5'Flank|CRNKL1_uc002wrt.1_Silent_p.P112P	0,1	1			p.P124P	NM_016652	NP_057736			0,1	CRNL1_HUMAN	CRNKL1	HGNC	Q9BZJ0	CRNL1_HUMAN					2	404	-			UPI00004A39A7	124					SNV	CRNKL1,synonymous_variant,p.=,ENST00000377340,NM_016652.5;CRNKL1,synonymous_variant,p.=,ENST00000377327,NM_001278626.1,NM_001278625.1,NM_001278627.1;CRNKL1,5_prime_UTR_variant,,ENST00000536226,NM_001278628.1;C20orf26,upstream_gene_variant,,ENST00000245957,NM_015585.3;C20orf26,upstream_gene_variant,,ENST00000377309,;C20orf26,upstream_gene_variant,,ENST00000389656,;C20orf26,upstream_gene_variant,,ENST00000377306,;C20orf26,upstream_gene_variant,,ENST00000451767,NM_001167816.1;C20orf26,upstream_gene_variant,,ENST00000340348,;C20orf26,upstream_gene_variant,,ENST00000377303,;C20orf26,upstream_gene_variant,,ENST00000475466,;CRNKL1,intron_variant,,ENST00000490910,;CRNKL1,intron_variant,,ENST00000496549,;C20orf26,upstream_gene_variant,,ENST00000494029,;	uc002wrs.2	c.372G>A	404/4406	2	2			c.372G>A						20	SNP	c.(370-372)CCG>CCA	29	29			ovary(2)|large_intestine(1)	3	Broad	crooked neck-like 1 protein			20033098		0.592	ENSG00000101343	3825	g.chr20:20033098C>T	spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding							78.099343	KEEP	13	17	-1	16	15	13	17	-1	78.20118	16	15	0.45283	1	0	0	0	0	0	0	1	0	--	--		0	T			C20orf26_uc010gcw.1_5'Flank|C20orf26_uc010zse.1_5'Flank|C20orf26_uc002wru.2_5'Flank|CRNKL1_uc002wrt.1_Silent_p.P112P	280	GBM-76-6285-TP	p.P124P	C	ATCTCGGAACCGGAAGCGGAA	NM_016652	NP_057736	20033098	Q9BZJ0	CRNL1_HUMAN	0			2	404	-	T	T			Silent	124						
CRNN	0	broad.mit.edu	GRCh37	1	152383181	152383181	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01	TCGA-14-0789-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271835.3:c.377C>T	p.Ala126Val	p.A126V	ENST00000271835	NM_016190.2	126	gCg/gTg	0			1			A	A/V	uc001ezx.2	protein_coding	YES	CCDS1010.1			377/1488									ovary(2)|skin(1)	3	c.(376-378)GCG>GTG			hmmpanther:PTHR11639,hmmpanther:PTHR11639:SF26	cornulin				ENSP00000271835		3-Mar	8.24E-06			0.000116					rs774952004,COSM896213	3-Mar	.		ENST00000271835	Transcript			cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	ENSG00000143536	g.chr1:152383181G>A	1230			MODERATE		0.625	neutral	getma.org/?cm=msa&ty=f&p=CRNN_HUMAN&rb=111&re=494&var=A126V	NA	getma.org/?cm=var&var=hg19,1,152383181,G,A&fts=all	A126V	--	--	1																																			0,1	1		benign(0.011)	p.A126V	NM_016190	NP_057274		tolerated(0.46)	0,1	CRNN_HUMAN	CRNN	HGNC	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)				3	451	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		UPI000006E106	126					SNV	CRNN,missense_variant,p.Ala126Val,ENST00000271835,NM_016190.2;RP1-91G5.3,intron_variant,,ENST00000411804,;	uc001ezx.2	c.377C>T	440/1902	1	1			c.377C>T						1	SNP	c.(376-378)GCG>GTG	60	60			ovary(2)|skin(1)	3	Broad	cornulin			152383181		0.637	ENSG00000143536	3826	g.chr1:152383181G>A	cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding							339.135917	KEEP	86	69	-1	248	213	86	69	-1	369.747697	248	213	0.259386	1	0	0	0	0	1	0	0	0	--	--		0	A				136	GBM-14-0789-TP	p.A126V	G	CCCTTTCCCCGCCCTTCCCAC	NM_016190	NP_057274	152383181	Q9UBG3	CRNN_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	451	-	A	A	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Missense_Mutation	126						
CRNN	0	broad.mit.edu	GRCh37	1	152382359	152382359	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271835.3:c.1199C>T	p.Pro400Leu	p.P400L	ENST00000271835	NM_016190.2	400	cCg/cTg	0		A:0	1	A:0.0014		A	P/L	uc001ezx.2	protein_coding	YES	CCDS1010.1			1199/1488									ovary(2)|skin(1)	3	c.(1198-1200)CCG>CTG			hmmpanther:PTHR11639,hmmpanther:PTHR11639:SF26	cornulin		A:0		ENSP00000271835	A:0	3-Mar	1.65E-05		8.64E-05			1.50E-05			rs200128647,COSM1127383	3-Mar	.		ENST00000271835	Transcript		A:0.0002	cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	ENSG00000143536	g.chr1:152382359G>A	1230			MODERATE		-0.935	neutral	getma.org/?cm=msa&ty=f&p=CRNN_HUMAN&rb=111&re=494&var=P400L	NA	getma.org/?cm=var&var=hg19,1,152382359,G,A&fts=all	P400L	--	--	1																																			0,1	1		benign(0)	p.P400L	NM_016190	NP_057274	A:0	tolerated(1)	0,1	CRNN_HUMAN	CRNN	HGNC	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)				3	1273	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		UPI000006E106	400					SNV	CRNN,missense_variant,p.Pro400Leu,ENST00000271835,NM_016190.2;RP1-91G5.3,intron_variant,,ENST00000411804,;	uc001ezx.2	c.1199C>T	1262/1902	1	1			c.1199C>T						1	SNP	c.(1198-1200)CCG>CTG	61	61			ovary(2)|skin(1)	3	Broad	cornulin			152382359		0.612	ENSG00000143536	3826	g.chr1:152382359G>A	cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding							104.545032	KEEP	13	24	-1	30	38	13	24	-1	106.175122	30	38	0.363636	1	0	0	0	0	1	0	0	0	--	--		0	A				177	GBM-19-5959-TP	p.P400L	G	CTGTCCTCCCGGTACTGTCTC	NM_016190	NP_057274	152382359	Q9UBG3	CRNN_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1273	-	A	A	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Missense_Mutation	400						
CROCC	9696	broad.mit.edu	GRCh37	1	17266398	17266398	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01	TCGA-06-0214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375541.5:c.1618G>A	p.Gly540Arg	p.G540R	ENST00000375541	NM_014675.3	540	Ggg/Agg	0			1			A	G/R	uc001azt.2	protein_coding	YES	CCDS30616.1			1618/6054									ovary(2)|breast(2)|central_nervous_system(1)	5	c.(1618-1620)GGG>AGG			hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF11	ciliary rootlet coiled-coil				ENSP00000364691		13/37									COSM3399999	13/37	.		ENST00000375541	Transcript			cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	ENSG00000058453	g.chr1:17266398G>A	21299			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=CROCC_HUMAN&rb=351&re=549&var=G540R	NA	getma.org/?cm=var&var=hg19,1,17266398,G,A&fts=all	G540R	--	--	1																																		CROCC_uc009voy.1_Missense_Mutation_p.G243R|CROCC_uc009voz.1_Missense_Mutation_p.G303R|CROCC_uc001azu.2_5'UTR	1	1		probably_damaging(0.991)	p.G540R	NM_014675	NP_055490			1	CROCC_HUMAN	CROCC	HGNC	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)			13	1687	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	UPI00001AE5A0	540					SNV	CROCC,missense_variant,p.Gly540Arg,ENST00000375541,NM_014675.3;CROCC,missense_variant,p.Gly400Arg,ENST00000445545,;CROCC,non_coding_transcript_exon_variant,,ENST00000467938,;CROCC,non_coding_transcript_exon_variant,,ENST00000466256,;CROCC,non_coding_transcript_exon_variant,,ENST00000492631,;CROCC,non_coding_transcript_exon_variant,,ENST00000467715,;CROCC,upstream_gene_variant,,ENST00000486318,;CROCC,intron_variant,,ENST00000494191,;	uc001azt.2	c.1618G>A	1687/6656	1	1			c.1618G>A						1	SNP	c.(1618-1620)GGG>AGG	59	59			ovary(2)|breast(2)|central_nervous_system(1)	5	Broad	ciliary rootlet coiled-coil			17266398		0.647	ENSG00000058453	3827	g.chr1:17266398G>A	cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity							-37.773108	KEEP	7	7	-1	118	155	7	7	-1	17.587219	118	155	0.040984	1	0	0	0	0	1	0	0	0	--	--		0	A			CROCC_uc009voy.1_Missense_Mutation_p.G243R|CROCC_uc009voz.1_Missense_Mutation_p.G303R|CROCC_uc001azu.2_5'UTR	50	GBM-06-0214-TP	p.G540R	G	GGACATGCGTGGGCGCTATGA	NM_014675	NP_055490	17266398	Q5TZA2	CROCC_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	13	1687	+	A	A		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	540						
CROCC	0	broad.mit.edu	GRCh37	1	17296756	17296756	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-1753-01	TCGA-28-1753-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375541.5:c.5460G>A	p.Arg1820=	p.R1820=	ENST00000375541	NM_014675.3	1820	cgG/cgA	0			1			A	R	uc001azt.2	protein_coding	YES	CCDS30616.1			5460/6054									ovary(2)|breast(2)|central_nervous_system(1)	5	c.(5458-5460)CGG>CGA			hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF11,Low_complexity_(Seg):seg	ciliary rootlet coiled-coil				ENSP00000364691		34/37									COSM3400001	34/37	.		ENST00000375541	Transcript			cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	ENSG00000058453	g.chr1:17296756G>A	21299			LOW								--	--	1																																		CROCC_uc001azu.2_Silent_p.R1123R|CROCC_uc001azv.2_Silent_p.R156R	1	1			p.R1820R	NM_014675	NP_055490			1	CROCC_HUMAN	CROCC	HGNC	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)			34	5529	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	UPI00001AE5A0	1820					SNV	CROCC,synonymous_variant,p.=,ENST00000375541,NM_014675.3;MFAP2,downstream_gene_variant,,ENST00000375535,;MFAP2,downstream_gene_variant,,ENST00000438542,NM_002403.3,NM_001135248.1;MFAP2,downstream_gene_variant,,ENST00000375534,NM_001135247.1,NM_017459.2;CROCC,non_coding_transcript_exon_variant,,ENST00000465021,;CROCC,non_coding_transcript_exon_variant,,ENST00000465291,;MFAP2,downstream_gene_variant,,ENST00000490075,;	uc001azt.2	c.5460G>A	5529/6656	2	2			c.5460G>A						1	SNP	c.(5458-5460)CGG>CGA	26	26			ovary(2)|breast(2)|central_nervous_system(1)	5	Broad	ciliary rootlet coiled-coil			17296756		0.428	ENSG00000058453	3827	g.chr1:17296756G>A	cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity							6.617715	KEEP	2	0	-1	2	2	2	0	-1	6.455429	2	2	0.666667	1	0	0	0	0	0	0	1	0	--	--		0	A			CROCC_uc001azu.2_Silent_p.R1123R|CROCC_uc001azv.2_Silent_p.R156R	207	GBM-28-1753-TP	p.R1820R	G	AGGTGCTGCGGCAGCGGCAGG	NM_014675	NP_055490	17296756	Q5TZA2	CROCC_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	34	5529	+	A	A		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	Silent	1820						
CROCC	0	broad.mit.edu	GRCh37	1	17281847	17281847	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6573-01	TCGA-74-6573-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375541.5:c.3506C>T	p.Ala1169Val	p.A1169V	ENST00000375541	NM_014675.3	1169	gCc/gTc	0			1			T	A/V	uc001azt.2	protein_coding	YES	CCDS30616.1			3506/6054									ovary(2)|breast(2)|central_nervous_system(1)	5	c.(3505-3507)GCC>GTC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF11	ciliary rootlet coiled-coil				ENSP00000364691		24/37	2.48E-05			0.000239					rs773127807,COSM3400000	24/37	.		ENST00000375541	Transcript			cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	ENSG00000058453	g.chr1:17281847C>T	21299			MODERATE		1.525	low	getma.org/?cm=msa&ty=f&p=CROCC_HUMAN&rb=1111&re=1309&var=A1169V	NA	getma.org/?cm=var&var=hg19,1,17281847,C,T&fts=all	A1169V	--	--	1																																		CROCC_uc001azu.2_Missense_Mutation_p.A472V	0,1	1		possibly_damaging(0.614)	p.A1169V	NM_014675	NP_055490			0,1	CROCC_HUMAN	CROCC	HGNC	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)			24	3575	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	UPI00001AE5A0	1169			Potential.		SNV	CROCC,missense_variant,p.Ala1169Val,ENST00000375541,NM_014675.3;CROCC,missense_variant,p.Ala1029Val,ENST00000445545,;CROCC,downstream_gene_variant,,ENST00000467938,;CROCC,downstream_gene_variant,,ENST00000486318,;CROCC,downstream_gene_variant,,ENST00000477773,;CROCC,downstream_gene_variant,,ENST00000498688,;CROCC,downstream_gene_variant,,ENST00000494191,;CROCC,downstream_gene_variant,,ENST00000497654,;	uc001azt.2	c.3506C>T	3575/6656	2	2			c.3506C>T						1	SNP	c.(3505-3507)GCC>GTC	30	30			ovary(2)|breast(2)|central_nervous_system(1)	5	Broad	ciliary rootlet coiled-coil			17281847		0.711	ENSG00000058453	3827	g.chr1:17281847C>T	cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity							-1.594968	KEEP	1	2	-1	17	24	1	2	-1	6.34204	17	24	0.071429	1	0	0	0	0	1	0	0	0	--	--		0	T			CROCC_uc001azu.2_Missense_Mutation_p.A472V	260	GBM-74-6573-TP	p.A1169V	C	CTGGAGGATGCCCGTGACGGG	NM_014675	NP_055490	17281847	Q5TZA2	CROCC_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	24	3575	+	T	T		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	1169			Potential.			
CROT	0	broad.mit.edu	GRCh37	7	86998729	86998729	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-27-1832-01	TCGA-27-1832-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331536.3:c.585G>T	p.Leu195=	p.L195=	ENST00000331536	NM_021151.3	195	ctG/ctT	0			1			T	L	uc003uit.2	protein_coding		CCDS5604.1			585/1839									ovary(2)|lung(1)	3	c.(583-585)CTG>CTT			hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF8,Pfam_domain:PF00755,Superfamily_domains:SSF52777	peroxisomal carnitine O-octanoyltransferase	L-Carnitine(DB00583)			ENSP00000331981		18-Jul									COSM3412434	18-Jul	.		ENST00000331536	Transcript			fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	ENSG00000005469	g.chr7:86998729G>T	2366			LOW								--	--	1																																		CROT_uc003uiu.2_Silent_p.L223L	1				p.L195L	NM_021151	NP_066974			1	OCTC_HUMAN	CROT	HGNC	Q9UKG9	OCTC_HUMAN			B4DT97_HUMAN		7	830	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		UPI00000746E9	195					SNV	CROT,synonymous_variant,p.=,ENST00000331536,NM_021151.3;CROT,synonymous_variant,p.=,ENST00000419147,NM_001143935.1;CROT,synonymous_variant,p.=,ENST00000442291,;CROT,non_coding_transcript_exon_variant,,ENST00000488850,;	uc003uit.2	c.585G>T	770/3175	1	1			c.585G>T						7	SNP	c.(583-585)CTG>CTT	7	7			ovary(2)|lung(1)	3	Broad	peroxisomal carnitine O-octanoyltransferase		L-Carnitine(DB00583)	86998729		0.428	ENSG00000005469	3828	g.chr7:86998729G>T	fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity							168.81838	KEEP	41	34	0.546666667	185	127	41	34	0.546666667	196.318199	185	127	0.206395	1	0	0	0	0	0	0	1	0	--	--		0	T			CROT_uc003uiu.2_Silent_p.L223L	191	GBM-27-1832-TP	p.L195L	G	TTGTAGTGCTGTGTCGAGGCC	NM_021151	NP_066974	86998729	Q9UKG9	OCTC_HUMAN	0			7	830	+	T	T	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		Silent	195						
CRTAC1	55118	broad.mit.edu	GRCh37	10	99683092	99683092	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01	TCGA-02-2486-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370597.3:c.487G>A	p.Asp163Asn	p.D163N	ENST00000370597	NM_018058.6	163	Gat/Aat	0	T:0		1			T	D/N	uc001kou.1	protein_coding	YES	CCDS31266.1			487/1986									ovary(4)|pancreas(1)	5	c.(487-489)GAT>AAT			hmmpanther:PTHR16026,hmmpanther:PTHR16026:SF4,Superfamily_domains:SSF69318	cartilage acidic protein 1 precursor			T:0.0001	ENSP00000359629		15-Apr	4.12E-05					7.50E-05			rs374900860,COSM3397339,COSM3397340	15-Apr	.		ENST00000370597	Transcript				proteinaceous extracellular matrix	calcium ion binding	ENSG00000095713	g.chr10:99683092C>T	14882			MODERATE		2.4	medium	getma.org/?cm=msa&ty=f&p=CRAC1_HUMAN&rb=133&re=252&var=D163N	NA	getma.org/?cm=var&var=hg19,10,99683092,C,T&fts=all	D163N	--	--	1																																		CRTAC1_uc001kov.2_Missense_Mutation_p.D152N|CRTAC1_uc001kot.1_5'UTR	0,1,1	1		probably_damaging(0.936)	p.D163N	NM_018058	NP_060528		tolerated(0.1)	0,1,1	CRAC1_HUMAN	CRTAC1	HGNC	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)			4	843	-		Colorectal(252;0.24)	UPI000006D454	163					SNV	CRTAC1,missense_variant,p.Asp163Asn,ENST00000370597,NM_018058.6;CRTAC1,missense_variant,p.Asp163Asn,ENST00000298819,;CRTAC1,missense_variant,p.Asp163Asn,ENST00000370591,NM_001206528.2;CRTAC1,missense_variant,p.Asp59Asn,ENST00000413387,;CRTAC1,missense_variant,p.Asp155Asn,ENST00000309155,;	uc001kou.1	c.487G>A	843/2890	1	1			c.487G>A						10	SNP	c.(487-489)GAT>AAT	6	6			ovary(4)|pancreas(1)	5	Broad	cartilage acidic protein 1 precursor			99683092		0.612	ENSG00000095713	3830	g.chr10:99683092C>T		proteinaceous extracellular matrix	calcium ion binding							-5.388228	KEEP	4	2	-1	38	44	4	2	-1	10.568428	38	44	0.0625	1	0	0	0	0	1	0	0	0	--	--		0	T			CRTAC1_uc001kov.2_Missense_Mutation_p.D152N|CRTAC1_uc001kot.1_5'UTR	8	GBM-02-2486-TP	p.D163N	C	TTGACCTCATCGCTCAGGATG	NM_018058	NP_060528	99683092	Q9NQ79	CRAC1_HUMAN	0		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	4	843	-	T	T		Colorectal(252;0.24)	Missense_Mutation	163						
CRTAC1	0	broad.mit.edu	GRCh37	10	99664517	99664517	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149424033		TCGA-12-0692-01	TCGA-12-0692-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370597.3:c.905G>A	p.Arg302His	p.R302H	ENST00000370597	NM_018058.6	302	cGt/cAt	0	T:0.0002		1			T	R/H	uc001kou.1	protein_coding	YES	CCDS31266.1			905/1986									ovary(4)|pancreas(1)	5	c.(904-906)CGT>CAT			Gene3D:3nigC00,Pfam_domain:PF13517,hmmpanther:PTHR16026,hmmpanther:PTHR16026:SF4,Superfamily_domains:SSF69318	cartilage acidic protein 1 precursor			T:0	ENSP00000359629		15-Jul	8.24E-06					1.50E-05			rs149424033,COSM922080,COSM3397338	15-Jul	.		ENST00000370597	Transcript				proteinaceous extracellular matrix	calcium ion binding	ENSG00000095713	g.chr10:99664517C>T	14882			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=CRAC1_HUMAN&rb=299&re=363&var=R302H	NA	getma.org/?cm=var&var=hg19,10,99664517,C,T&fts=all	R302H	--	--	1																																		CRTAC1_uc001kov.2_Missense_Mutation_p.R291H|CRTAC1_uc001kot.1_Missense_Mutation_p.R92H	0,1,1	1		probably_damaging(0.952)	p.R302H	NM_018058	NP_060528		tolerated(0.24)	0,1,1	CRAC1_HUMAN	CRTAC1	HGNC	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)			7	1261	-		Colorectal(252;0.24)	UPI000006D454	302			FG-GAP 3; atypical.		SNV	CRTAC1,missense_variant,p.Arg302His,ENST00000370597,NM_018058.6;CRTAC1,missense_variant,p.Arg302His,ENST00000298819,;CRTAC1,missense_variant,p.Arg302His,ENST00000370591,NM_001206528.2;CRTAC1,missense_variant,p.Arg198His,ENST00000413387,;CRTAC1,missense_variant,p.Arg294His,ENST00000309155,;	uc001kou.1	c.905G>A	1261/2890	2	2			c.905G>A						10	SNP	c.(904-906)CGT>CAT	39	39			ovary(4)|pancreas(1)	5	Broad	cartilage acidic protein 1 precursor			99664517		0.617	ENSG00000095713	3830	g.chr10:99664517C>T		proteinaceous extracellular matrix	calcium ion binding							268.103405	KEEP	54	27	-1	9	12	54	27	-1	275.69053	9	12	0.787879	1	0	0	0	0	1	0	0	0	--	--		0	T			CRTAC1_uc001kov.2_Missense_Mutation_p.R291H|CRTAC1_uc001kot.1_Missense_Mutation_p.R92H	122	GBM-12-0692-TP	p.R302H	C	TTTGCCATCACGGTTGAAGTC	NM_018058	NP_060528	99664517	Q9NQ79	CRAC1_HUMAN	0		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	7	1261	-	T	T		Colorectal(252;0.24)	Missense_Mutation	302			FG-GAP 3; atypical.			
CRTC1	0	broad.mit.edu	GRCh37	19	18870986	18870986	+	synonymous_variant	Silent	SNP	C	C	T	rs140237275	byFrequency	TCGA-76-4926-01	TCGA-76-4926-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321949.8:c.834C>T	p.Thr278=	p.T278=	ENST00000321949	NM_015321.2	278	acC/acT	0	T:0.0007		1			T	T	uc002nkb.3	protein_coding		CCDS32963.1			834/1905							CRTC1/MAML2(516)		salivary_gland(474)|lung(35)|thyroid(4)|breast(3)|skin(2)|ovary(1)	519	c.(832-834)ACC>ACT			hmmpanther:PTHR13589:SF14,hmmpanther:PTHR13589,Pfam_domain:PF12885	mucoepidermoid carcinoma translocated 1 isoform			T:0.0003	ENSP00000323332		14-Aug	4.12E-05	0.000211				3.28E-05	0.0012		rs140237275,COSM3403968,COSM3403967	14-Aug	.		ENST00000321949	Transcript			interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	ENSG00000105662	g.chr19:18870986C>T	16062			LOW								--	--	1																																		CRTC1_uc010ebv.2_Silent_p.T294T|CRTC1_uc010ebw.2_Silent_p.T143T|CRTC1_uc002nkc.3_Silent_p.T143T	0,1,1				p.T278T	NM_015321	NP_056136			0,1,1	CRTC1_HUMAN	CRTC1	HGNC	Q6UUV9	CRTC1_HUMAN					8	922	+			UPI0000140CBC	278					SNV	CRTC1,synonymous_variant,p.=,ENST00000338797,NM_001098482.1;CRTC1,synonymous_variant,p.=,ENST00000321949,NM_015321.2;CRTC1,synonymous_variant,p.=,ENST00000594658,;CRTC1,synonymous_variant,p.=,ENST00000601916,;	uc002nkb.3	c.834C>T	860/2501	2	2			c.834C>T						19	SNP	c.(832-834)ACC>ACT	24	24	CRTC1/MAML2(516)		salivary_gland(474)|lung(35)|thyroid(4)|breast(3)|skin(2)|ovary(1)	519	Broad	mucoepidermoid carcinoma translocated 1 isoform			18870986		0.697	ENSG00000105662	3833	g.chr19:18870986C>T	interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding			173			173	23.209231	KEEP	4	9	-1	20	15	4	9	-1	25.706388	20	15	0.25	1	0	0	0	0	0	0	1	0	--	--		0	T			CRTC1_uc010ebv.2_Silent_p.T294T|CRTC1_uc010ebw.2_Silent_p.T143T|CRTC1_uc002nkc.3_Silent_p.T143T	266	GBM-76-4926-TP	p.T278T	C	CCAGCAGCACCGGCAACCTCG	NM_015321	NP_056136	18870986	Q6UUV9	CRTC1_HUMAN	0			8	922	+	T	T			Silent	278						
CRTC2	200186	broad.mit.edu	GRCh37	1	153923904	153923904	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5412-01	TCGA-06-5412-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368633.1:c.1236C>T	p.Gly412=	p.G412=	ENST00000368633	NM_181715.2	412	ggC/ggT	0	A:0.0002	A:0	1	A:0		A	G	uc010ped.1	protein_coding	YES	CCDS30875.1			1236/2082									ovary(2)	2	c.(1234-1236)GGC>GGT			Low_complexity_(Seg):seg,hmmpanther:PTHR13589:SF6,hmmpanther:PTHR13589	CREB regulated transcription coactivator 2		A:0	A:0	ENSP00000357622	A:0	14-Nov	4.94E-05	0.00012	0.000109	0.000137		3.56E-05		7.75E-05	rs201148360,COSM3399772	14-Nov	.		ENST00000368633	Transcript		A:0.0002	interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	ENSG00000160741	g.chr1:153923904G>A	27301			LOW								--	--	1																																		CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_Intron	0,1	1			p.G412G	NM_181715	NP_859066	A:0.001		0,1	CRTC2_HUMAN	CRTC2	HGNC	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		Q8WZ18_HUMAN,Q8N332_HUMAN		11	1306	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		UPI00001A9468	412					SNV	CRTC2,synonymous_variant,p.=,ENST00000368633,NM_181715.2;CRTC2,synonymous_variant,p.=,ENST00000368630,;DENND4B,upstream_gene_variant,,ENST00000361217,NM_014856.2;CRTC2,downstream_gene_variant,,ENST00000476883,;CRTC2,downstream_gene_variant,,ENST00000492073,;CRTC2,synonymous_variant,p.=,ENST00000461638,;CRTC2,3_prime_UTR_variant,,ENST00000303569,;CRTC2,non_coding_transcript_exon_variant,,ENST00000524997,;CRTC2,intron_variant,,ENST00000487235,;CRTC2,downstream_gene_variant,,ENST00000467860,;CRTC2,downstream_gene_variant,,ENST00000493909,;	uc010ped.1	c.1236C>T	1364/2644	1	1			c.1236C>T						1	SNP	c.(1234-1236)GGC>GGT	54	54			ovary(2)	2	Broad	CREB regulated transcription coactivator 2			153923904		0.592	ENSG00000160741	3834	g.chr1:153923904G>A	interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding							8.410657	KEEP	3	2	-1	9	8	3	2	-1	10.274091	9	8	0.190476	1	0	0	0	0	0	0	1	0	--	--		0	A			CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_Intron	95	GBM-06-5412-TP	p.G412G	G	AAGAGGGGGCGCCCAAAACAG	NM_181715	NP_859066	153923904	Q53ET0	CRTC2_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.151)		11	1306	-	A	A	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		Silent	412						
CRTC2	0	broad.mit.edu	GRCh37	1	153927550	153927550	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-5135-01	TCGA-26-5135-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368633.1:c.246C>T	p.Ala82=	p.A82=	ENST00000368633	NM_181715.2	82	gcC/gcT	0	A:0.0005		1			A	A	uc010ped.1	protein_coding	YES	CCDS30875.1			246/2082									ovary(2)	2	c.(244-246)GCC>GCT			hmmpanther:PTHR13589:SF6,hmmpanther:PTHR13589	CREB regulated transcription coactivator 2			A:0	ENSP00000357622		14-Feb	4.12E-05	0.000288	0.000173						rs372355568,COSM2157038	14-Feb	.		ENST00000368633	Transcript			interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	ENSG00000160741	g.chr1:153927550G>A	27301			LOW								--	--	1																																		CRTC2_uc001fde.3_5'Flank|CRTC2_uc001fdf.3_5'Flank	0,1	1			p.A82A	NM_181715	NP_859066			0,1	CRTC2_HUMAN	CRTC2	HGNC	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		Q8WZ18_HUMAN,Q8N332_HUMAN		2	316	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		UPI00001A9468	82					SNV	CRTC2,synonymous_variant,p.=,ENST00000368633,NM_181715.2;CRTC2,intron_variant,,ENST00000368630,;SLC39A1,downstream_gene_variant,,ENST00000368623,;SLC39A1,downstream_gene_variant,,ENST00000310483,NM_014437.4,NM_001271960.1;SLC39A1,downstream_gene_variant,,ENST00000368621,NM_001271959.1,NM_001271957.1;SLC39A1,downstream_gene_variant,,ENST00000356205,NM_001271958.1;SLC39A1,downstream_gene_variant,,ENST00000537590,;CRTC2,non_coding_transcript_exon_variant,,ENST00000476883,;CRTC2,non_coding_transcript_exon_variant,,ENST00000492073,;CRTC2,non_coding_transcript_exon_variant,,ENST00000487235,;CRTC2,intron_variant,,ENST00000303569,;CRTC2,upstream_gene_variant,,ENST00000461638,;CRTC2,upstream_gene_variant,,ENST00000524997,;CRTC2,upstream_gene_variant,,ENST00000467860,;CRTC2,upstream_gene_variant,,ENST00000493909,;	uc010ped.1	c.246C>T	374/2644	2	2			c.246C>T						1	SNP	c.(244-246)GCC>GCT	24	24			ovary(2)	2	Broad	CREB regulated transcription coactivator 2			153927550		0.547	ENSG00000160741	3834	g.chr1:153927550G>A	interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding							72.588129	KEEP	20	8	-1	29	40	20	8	-1	75.378705	29	40	0.310345	1	0	0	0	0	0	0	1	0	--	--		0	A			CRTC2_uc001fde.3_5'Flank|CRTC2_uc001fdf.3_5'Flank	184	GBM-26-5135-TP	p.A82A	G	CCTGGAACTCGGCCAGGCCAG	NM_181715	NP_859066	153927550	Q53ET0	CRTC2_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.151)		2	316	-	A	A	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		Silent	82						
CRTC2	0	broad.mit.edu	GRCh37	1	153921628	153921628	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4209-01	TCGA-32-4209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368633.1:c.1637C>T	p.Ser546Phe	p.S546F	ENST00000368633	NM_181715.2	546	tCt/tTt	0			1			A	S/F	uc010ped.1	protein_coding	YES	CCDS30875.1			1637/2082									ovary(2)	2	c.(1636-1638)TCT>TTT			hmmpanther:PTHR13589:SF6,hmmpanther:PTHR13589	CREB regulated transcription coactivator 2				ENSP00000357622		14-Dec									COSM3399771	14-Dec	.		ENST00000368633	Transcript			interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	ENSG00000160741	g.chr1:153921628G>A	27301			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=CRTC2_HUMAN&rb=524&re=614&var=S546F	NA	getma.org/?cm=var&var=hg19,1,153921628,G,A&fts=all	S546F	--	--	1																																		DENND4B_uc001fdd.1_5'Flank|CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_Missense_Mutation_p.S82F	1	1		benign(0.241)	p.S546F	NM_181715	NP_859066		tolerated(0.54)	1	CRTC2_HUMAN	CRTC2	HGNC	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		Q8WZ18_HUMAN,Q8N332_HUMAN		12	1707	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		UPI00001A9468	546					SNV	CRTC2,missense_variant,p.Ser546Phe,ENST00000368633,NM_181715.2;CRTC2,missense_variant,p.Ser226Phe,ENST00000368630,;DENND4B,upstream_gene_variant,,ENST00000361217,NM_014856.2;DENND4B,upstream_gene_variant,,ENST00000368646,;CRTC2,downstream_gene_variant,,ENST00000476883,;CRTC2,missense_variant,p.Ser466Phe,ENST00000461638,;CRTC2,3_prime_UTR_variant,,ENST00000303569,;CRTC2,non_coding_transcript_exon_variant,,ENST00000487235,;CRTC2,downstream_gene_variant,,ENST00000524997,;CRTC2,downstream_gene_variant,,ENST00000467860,;CRTC2,downstream_gene_variant,,ENST00000493909,;	uc010ped.1	c.1637C>T	1765/2644	1	1			c.1637C>T						1	SNP	c.(1636-1638)TCT>TTT	57	57			ovary(2)	2	Broad	CREB regulated transcription coactivator 2			153921628		0.597	ENSG00000160741	3834	g.chr1:153921628G>A	interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding							-20.893979	KEEP	6	6	-1	104	133	6	6	-1	25.389732	104	133	0.054299	1	0	0	0	0	1	0	0	0	--	--		0	A			DENND4B_uc001fdd.1_5'Flank|CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_Missense_Mutation_p.S82F	244	GBM-32-4209-TP	p.S546F	G	CCGGTGGTAAGACTGTTGCCC	NM_181715	NP_859066	153921628	Q53ET0	CRTC2_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.151)		12	1707	-	A	A	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		Missense_Mutation	546						
CRTC3	64784		GRCh37	15	91184403	91184403	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000268184.6:c.1623C>T	p.Cys541=	p.C541=	ENST00000268184		541	tgC/tgT	0																																																																																																																																																																																																																																												
CRX	0	broad.mit.edu	GRCh37	19	48342915	48342915	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2615-01	TCGA-32-2615-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221996.7:c.591G>A	p.Pro197=	p.P197=	ENST00000221996	NM_000554.4	197	ccG/ccA	0			1			A	P	uc002phq.3	protein_coding	YES	CCDS12706.1			591/900								p.P197P(1)	breast(1)|central_nervous_system(1)	2	c.(589-591)CCG>CCA			Pfam_domain:PF03529,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF271,Low_complexity_(Seg):seg	cone-rod homeobox protein				ENSP00000221996		4-Apr	0.000173					3.01E-05		0.00115	rs769009205,COSM39570	4-Apr	common_variant		ENST00000221996	Transcript	1		organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000105392	g.chr19:48342915G>A	2383			LOW								--	--	1																																			0,1	1			p.P197P	NM_000554	NP_000545			0,1	CRX_HUMAN	CRX	HGNC	O43186	CRX_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)	Q0QD45_HUMAN,H3BUU7_HUMAN,A4GUB7_HUMAN		4	795	+		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	UPI00001284E0	197					SNV	CRX,synonymous_variant,p.=,ENST00000221996,NM_000554.4;CRX,synonymous_variant,p.=,ENST00000539067,;TPRX2P,intron_variant,,ENST00000535362,;CRX,downstream_gene_variant,,ENST00000566686,;CRX,upstream_gene_variant,,ENST00000602001,;CRX,downstream_gene_variant,,ENST00000556527,;	uc002phq.3	c.591G>A	797/4469	2	2			c.591G>A						19	SNP	c.(589-591)CCG>CCA	47	47		p.P197P(1)	breast(1)|central_nervous_system(1)	2	Broad	cone-rod homeobox protein			48342915		0.672	ENSG00000105392	3836	g.chr19:48342915G>A	organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	Pancreas(57;461 1196 22201 40716 47188)			Pancreas(57;461 1196 22201 40716 47188)			192.633355	KEEP	33	30	-1	32	51	33	30	-1	193.115199	32	51	0.4375	1	0	0	0	0	0	0	1	0	--	--		0	A				239	GBM-32-2615-TP	p.P197P	G	CCTACGCCCCGGCCTCCGCTT	NM_000554	NP_000545	48342915	O43186	CRX_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)	4	795	+	A	A		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	Silent	197						
CRY1	0	broad.mit.edu	GRCh37	12	107393552	107393552	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01	TCGA-27-2523-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000008527.5:c.914G>A	p.Arg305His	p.R305H	ENST00000008527	NM_004075.4	305	cGc/cAc	0			1			T	R/H	uc001tmi.3	protein_coding	YES	CCDS9112.1			914/1761									ovary(3)	3	c.(913-915)CGC>CAC			Gene3D:1owlA03,Pfam_domain:PF03441,hmmpanther:PTHR11455,hmmpanther:PTHR11455:SF16,Superfamily_domains:SSF48173	cryptochrome 1 (photolyase-like)				ENSP00000008527		13-Jul	8.24E-06					1.50E-05			rs774995797,COSM3398297	13-Jul	.		ENST00000008527	Transcript			DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding	ENSG00000008405	g.chr12:107393552C>T	2384			MODERATE		0.355	neutral	getma.org/?cm=msa&ty=f&p=CRY1_HUMAN&rb=212&re=488&var=R305H	getma.org/pdb.php?prot=CRY1_HUMAN&from=212&to=488&var=R305H	getma.org/?cm=var&var=hg19,12,107393552,C,T&fts=all	R305H	--	--	1																																			0,1	1		benign(0.032)	p.R305H	NM_004075	NP_004066		deleterious(0.05)	0,1	CRY1_HUMAN	CRY1	HGNC	Q16526	CRY1_HUMAN			H0YHT0_HUMAN,A2I2P0_HUMAN		7	1773	-			UPI0000073E80	305			FAD-binding.		SNV	CRY1,missense_variant,p.Arg305His,ENST00000008527,NM_004075.4;CRY1,upstream_gene_variant,,ENST00000549356,;CRY1,non_coding_transcript_exon_variant,,ENST00000552790,;CRY1,downstream_gene_variant,,ENST00000546722,;	uc001tmi.3	c.914G>A	1782/3267	2	2			c.914G>A						12	SNP	c.(913-915)CGC>CAC	30	30			ovary(3)	3	Broad	cryptochrome 1 (photolyase-like)			107393552		0.433	ENSG00000008405	3837	g.chr12:107393552C>T	DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding							94.660596	KEEP	17	18	-1	17	26	17	18	-1	94.896442	17	26	0.44	1	0	0	0	0	1	0	0	0	--	--		0	T				201	GBM-27-2523-TP	p.R305H	C	TTTATCAAAGCGTGGATTATT	NM_004075	NP_004066	107393552	Q16526	CRY1_HUMAN	0			7	1773	-	T	T			Missense_Mutation	305			FAD-binding.			
CRYBA4	0	broad.mit.edu	GRCh37	22	27018564	27018564	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-4208-01	TCGA-32-4208-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354760.3:c.4A>G	p.Thr2Ala	p.T2A	ENST00000354760	NM_001886.2	2	Acc/Gcc	0			1			G	T/A	uc003acz.3	protein_coding	YES	CCDS13841.1			4/591										0	c.(4-6)ACC>GCC			hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF19	crystallin, beta A4				ENSP00000346805		6-Feb									COSM3405567	6-Feb	.		ENST00000354760	Transcript	1		camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	ENSG00000196431	g.chr22:27018564A>G	2396			MODERATE		1.75	low	getma.org/?cm=msa&ty=f&p=CRBA4_HUMAN&rb=1&re=42&var=T2A	NA	getma.org/?cm=var&var=hg19,22,27018564,A,G&fts=all	T2A	--	--	1																																			1	1		benign(0.004)	p.T2A	NM_001886	NP_001877		tolerated(0.42)	1	CRBA4_HUMAN	CRYBA4	HGNC	P53673	CRBA4_HUMAN					2	39	+			UPI0000167B21	2			N-terminal arm.		SNV	CRYBA4,missense_variant,p.Thr2Ala,ENST00000354760,NM_001886.2;CRYBB1,upstream_gene_variant,,ENST00000215939,NM_001887.3;CRYBA4,non_coding_transcript_exon_variant,,ENST00000466315,;	uc003acz.3	c.4A>G	39/811	3	3			c.4A>G						22	SNP	c.(4-6)ACC>GCC	52	52				0	Broad	crystallin, beta A4			27018564		0.552	ENSG00000196431	3843	g.chr22:27018564A>G	camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens							-30.798763	KEEP	2	1	-1	99	74	2	1	-1	7.075125	99	74	0.020408	1	0	0	0	0	1	0	0	0	--	--		0	G				243	GBM-32-4208-TP	p.T2A	A	GGCCACAATGACCCTGCAATG	NM_001886	NP_001877	27018564	P53673	CRBA4_HUMAN	0			2	39	+	G	G			Missense_Mutation	2			N-terminal arm.			
CRYGC	0	broad.mit.edu	GRCh37	2	208993026	208993026	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-5213-01	TCGA-28-5213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282141.3:c.426G>A	p.Arg142=	p.R142=	ENST00000282141	NM_020989.3	142	cgG/cgA	0			1			T	R	uc002vco.3	protein_coding	YES	CCDS2379.1			426/525										0	c.(424-426)CGG>CGA			PROSITE_profiles:PS50915,hmmpanther:PTHR11818:SF32,hmmpanther:PTHR11818,Pfam_domain:PF00030,Gene3D:2.60.20.10,SMART_domains:SM00247,Superfamily_domains:SSF49695	crystallin, gamma C				ENSP00000282141		3-Mar									COSM3407523	3-Mar	.		ENST00000282141	Transcript	1		visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens	ENSG00000163254	g.chr2:208993026C>T	2410			LOW								--	--	1																																			1	1			p.R142R	NM_020989	NP_066269			1	CRGC_HUMAN	CRYGC	HGNC	P07315	CRGC_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)			3	464	-			UPI000013DCBD	142			Beta/gamma crystallin 'Greek key' 4.		SNV	CRYGC,synonymous_variant,p.=,ENST00000282141,NM_020989.3;CRYGD,upstream_gene_variant,,ENST00000264376,NM_006891.3;	uc002vco.3	c.426G>A	464/629	2	2			c.426G>A						2	SNP	c.(424-426)CGG>CGA	48	48				0	Broad	crystallin, gamma C			208993026		0.622	ENSG00000163254	3850	g.chr2:208993026C>T	visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens							-38.525734	KEEP	2	3	-1	100	101	2	3	-1	6.711316	100	101	0.022472	1	0	0	0	0	0	0	1	0	--	--		0	T				220	GBM-28-5213-TP	p.R142R	C	GCAGGTATTGCCGCCCCCGGT	NM_020989	NP_066269	208993026	P07315	CRGC_HUMAN	0		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)	3	464	-	T	T			Silent	142			Beta/gamma crystallin 'Greek key' 4.			
CRYM	1428		GRCh37	16	21273454	21273454	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000219599.3:c.699G>T	p.Trp233Cys	p.W233C	ENST00000219599	NM_001888.3	233	tgG/tgT	0																																																																																																																																																																																																																																												
CSAG1	0	broad.mit.edu	GRCh37	X	151908921	151908921	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-28-2513-01	TCGA-28-2513-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370287.3:c.160C>A	p.Pro54Thr	p.P54T	ENST00000370287	NM_153478.1	54	Cca/Aca	0	A:0		1			A	P/T	uc004fge.2	protein_coding	YES	CCDS14711.1			160/237									ovary(1)	1	c.(160-162)CCA>ACA				chondrosarcoma associated gene 1 precursor			A:0.0001	ENSP00000359310		5-Apr	1.65E-05					2.08E-05			rs367758915,COSM3406092,COSM3406093	5-Apr	.		ENST00000370287	Transcript						ENSG00000198930	g.chrX:151908921C>A	24294			MODERATE								--	--	1																																		CSAG1_uc004fgf.2_Missense_Mutation_p.P54T|CSAG1_uc004fgd.2_RNA	0,1,1	1		probably_damaging(0.991)	p.P54T	NM_153478	NP_705611		deleterious_low_confidence(0)	0,1,1	CSAG1_HUMAN	CSAG1	HGNC	Q6PB30	CSAG1_HUMAN					4	488	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000015FDBE	54					SNV	CSAG1,missense_variant,p.Pro54Thr,ENST00000370291,;CSAG1,missense_variant,p.Pro54Thr,ENST00000370287,NM_153478.1;CSAG1,missense_variant,p.Pro54Thr,ENST00000452779,NM_001102576.1;CSAG1,3_prime_UTR_variant,,ENST00000361211,;	uc004fge.2	c.160C>A	488/875	2	2			c.160C>A						23	SNP	c.(160-162)CCA>ACA	30	30			ovary(1)	1	Broad	chondrosarcoma associated gene 1 precursor			151908921		0.557	ENSG00000198930	3860	g.chrX:151908921C>A										20.466823	KEEP	23	17	0.425	156	203	23	17	0.425	76.51599	156	203	0.09621	1	0	0	0	0	1	0	0	0	--	--		0	A			CSAG1_uc004fgf.2_Missense_Mutation_p.P54T|CSAG1_uc004fgd.2_RNA	213	GBM-28-2513-TP	p.P54T	C	CCCATCAACACCAAAGAGGCG	NM_153478	NP_705611	151908921	Q6PB30	CSAG1_HUMAN	0			4	488	+	A	A	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	54						
CSDC2	27254	broad.mit.edu	GRCh37	22	41969718	41969718	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01	TCGA-06-2564-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306149.7:c.236C>T	p.Ser79Leu	p.S79L	ENST00000306149	NM_014460.3	79	tCa/tTa	0			1			T	S/L	uc003bak.1	protein_coding	YES	CCDS14019.1			236/462										0	c.(235-237)TCA>TTA			Superfamily_domains:SSF50249,SMART_domains:SM00357,Gene3D:2.40.50.140,Pfam_domain:PF00313,hmmpanther:PTHR12962,hmmpanther:PTHR12962:SF4	RNA-binding protein pippin				ENSP00000302485		4-Mar									COSM3405693	4-Mar	.		ENST00000306149	Transcript			histone mRNA 3'-end processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|RNA binding	ENSG00000172346	g.chr22:41969718C>T	30359			MODERATE		2.745	medium	getma.org/?cm=msa&ty=f&p=CSDC2_HUMAN&rb=69&re=135&var=S79L	getma.org/pdb.php?prot=CSDC2_HUMAN&from=69&to=135&var=S79L	getma.org/?cm=var&var=hg19,22,41969718,C,T&fts=all	S79L	--	--	1																																			1	1		possibly_damaging(0.851)	p.S79L	NM_014460	NP_055275		deleterious(0.01)	1	CSDC2_HUMAN	CSDC2	HGNC	Q9Y534	CSDC2_HUMAN					3	533	+			UPI000006D88D	79			CSD.		SNV	CSDC2,missense_variant,p.Ser79Leu,ENST00000306149,NM_014460.3;CSDC2,missense_variant,p.Ser62Leu,ENST00000460790,;PMM1,downstream_gene_variant,,ENST00000216259,NM_002676.2;PMM1,downstream_gene_variant,,ENST00000463617,;PMM1,downstream_gene_variant,,ENST00000482178,;PMM1,downstream_gene_variant,,ENST00000472620,;PMM1,downstream_gene_variant,,ENST00000485648,;	uc003bak.1	c.236C>T	780/2777	2	2			c.236C>T						22	SNP	c.(235-237)TCA>TTA	29	29				0	Broad	RNA-binding protein pippin			41969718		0.612	ENSG00000172346	3862	g.chr22:41969718C>T	histone mRNA 3'-end processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|RNA binding	NSCLC(181;294 2110 12667 14717 31090)			NSCLC(181;294 2110 12667 14717 31090)			-20.445846	KEEP	3	5	-1	79	90	3	5	-1	13.139481	79	90	0.050955	1	0	0	0	0	1	0	0	0	--	--		0	T				87	GBM-06-2564-TP	p.S79L	C	TTCTCACGCTCACAGGGCCAT	NM_014460	NP_055275	41969718	Q9Y534	CSDC2_HUMAN	0			3	533	+	T	T			Missense_Mutation	79			CSD.			
CSDE1	7812	broad.mit.edu	GRCh37	1	115269683	115269683	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0209-01	TCGA-06-0209-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000438362.2:c.1523A>G	p.Asp508Gly	p.D508G	ENST00000438362	NM_001242891.1	508	gAt/gGt	0			1			C	D/G	uc001efk.2	protein_coding		CCDS30812.1			1385/2397									ovary(1)	1	c.(1384-1386)GAT>GGT			Gene3D:2.40.50.140,hmmpanther:PTHR12913,hmmpanther:PTHR12913:SF1	upstream of NRAS isoform 1				ENSP00000351329		13/20									COSM3399565,COSM3399564	13/20	.		ENST00000358528	Transcript			male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	ENSG00000009307	g.chr1:115269683T>C	29905			MODERATE		1.155	low	getma.org/?cm=msa&ty=f&p=CSDE1_HUMAN&rb=447&re=507&var=D462G	NA	getma.org/?cm=var&var=hg19,1,115269683,T,C&fts=all	D462G	--	--	1																																		CSDE1_uc001efi.2_Missense_Mutation_p.D508G|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Missense_Mutation_p.D431G|CSDE1_uc001efm.2_Missense_Mutation_p.D477G|CSDE1_uc009wgv.2_Missense_Mutation_p.D462G|CSDE1_uc001efn.2_Missense_Mutation_p.D431G	1,1			benign(0.379)	p.D462G	NM_001007553	NP_001007554		tolerated(0.45)	1,1	CSDE1_HUMAN	CSDE1	HGNC	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Q9UG93_HUMAN,E9PLD4_HUMAN,E9PKN4_HUMAN		13	1851	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	UPI0000137C99	462			CSD 6.		SNV	CSDE1,missense_variant,p.Asp508Gly,ENST00000438362,NM_001242891.1;CSDE1,missense_variant,p.Asp462Gly,ENST00000358528,NM_001007553.2;CSDE1,missense_variant,p.Asp431Gly,ENST00000339438,NM_007158.5;CSDE1,missense_variant,p.Asp477Gly,ENST00000369530,NM_001130523.2;CSDE1,missense_variant,p.Asp332Gly,ENST00000530886,;CSDE1,missense_variant,p.Asp431Gly,ENST00000261443,NM_001242893.1;CSDE1,missense_variant,p.Asp462Gly,ENST00000534699,NM_001242892.1;Y_RNA,upstream_gene_variant,,ENST00000365030,;CSDE1,upstream_gene_variant,,ENST00000483030,;CSDE1,upstream_gene_variant,,ENST00000530784,;	uc001efk.2	c.1385A>G	1812/4076	3	3			c.1385A>G						1	SNP	c.(1384-1386)GAT>GGT	62	62			ovary(1)	1	Broad	upstream of NRAS isoform 1			115269683		0.373	ENSG00000009307	3863	g.chr1:115269683T>C	male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding							81.402728	KEEP	14	20	-1	56	66	14	20	-1	92.126693	56	66	0.210145	1	0	0	0	0	1	0	0	0	--	--		0	C			CSDE1_uc001efi.2_Missense_Mutation_p.D508G|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Missense_Mutation_p.D431G|CSDE1_uc001efm.2_Missense_Mutation_p.D477G|CSDE1_uc009wgv.2_Missense_Mutation_p.D462G|CSDE1_uc001efn.2_Missense_Mutation_p.D431G	46	GBM-06-0209-TP	p.D462G	T	CCCACAGTCATCATAAGCAAT	NM_001007553	NP_001007554	115269683	O75534	CSDE1_HUMAN	0		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	13	1851	-	C	C	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	Missense_Mutation	462			CSD 6.			
CSDE1	0	broad.mit.edu	GRCh37	1	115272925	115272925	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-19-2624-01	TCGA-19-2624-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358528.4:c.1310C>G	p.Thr437Ser	p.T437S	ENST00000358528	NM_001007553.2	437	aCt/aGt	0			1			C	T/S	uc001efk.2	protein_coding		CCDS30812.1			1310/2397									ovary(1)	1	c.(1309-1311)ACT>AGT			hmmpanther:PTHR12913,hmmpanther:PTHR12913:SF1	upstream of NRAS isoform 1				ENSP00000351329		20-Dec									COSM2156261,COSM2156260	20-Dec	.		ENST00000358528	Transcript			male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	ENSG00000009307	g.chr1:115272925G>C	29905			MODERATE		1.155	low	getma.org/?cm=msa&ty=f&p=CSDE1_HUMAN&rb=414&re=518&var=T437S	NA	getma.org/?cm=var&var=hg19,1,115272925,G,C&fts=all	T437S	--	--	1																																		CSDE1_uc001efi.2_Missense_Mutation_p.T483S|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Missense_Mutation_p.T406S|CSDE1_uc001efm.2_Missense_Mutation_p.T452S|CSDE1_uc009wgv.2_Missense_Mutation_p.T437S|CSDE1_uc001efn.2_Missense_Mutation_p.T406S	1,1			benign(0.002)	p.T437S	NM_001007553	NP_001007554		tolerated(0.99)	1,1	CSDE1_HUMAN	CSDE1	HGNC	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Q9UG93_HUMAN,E9PLD4_HUMAN,E9PKN4_HUMAN		12	1776	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	UPI0000137C99	437					SNV	CSDE1,missense_variant,p.Thr483Ser,ENST00000438362,NM_001242891.1;CSDE1,missense_variant,p.Thr437Ser,ENST00000358528,NM_001007553.2;CSDE1,missense_variant,p.Thr406Ser,ENST00000339438,NM_007158.5;CSDE1,missense_variant,p.Thr452Ser,ENST00000369530,NM_001130523.2;CSDE1,missense_variant,p.Thr307Ser,ENST00000530886,;CSDE1,missense_variant,p.Thr406Ser,ENST00000261443,NM_001242893.1;CSDE1,missense_variant,p.Thr437Ser,ENST00000534699,NM_001242892.1;CSDE1,downstream_gene_variant,,ENST00000529046,;Y_RNA,downstream_gene_variant,,ENST00000365030,;CSDE1,upstream_gene_variant,,ENST00000483030,;	uc001efk.2	c.1310C>G	1737/4076	4	4			c.1310C>G						1	SNP	c.(1309-1311)ACT>AGT	47	47			ovary(1)	1	Broad	upstream of NRAS isoform 1			115272925		0.378	ENSG00000009307	3863	g.chr1:115272925G>C	male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding							236.682996	KEEP	31	43	-1	50	49	31	43	-1	237.217801	50	49	0.435374	1	0	0	0	0	1	0	0	0	--	--		0	C			CSDE1_uc001efi.2_Missense_Mutation_p.T483S|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Missense_Mutation_p.T406S|CSDE1_uc001efm.2_Missense_Mutation_p.T452S|CSDE1_uc009wgv.2_Missense_Mutation_p.T437S|CSDE1_uc001efn.2_Missense_Mutation_p.T406S	164	GBM-19-2624-TP	p.T437S	G	ATTGGAAAAAGTGGCTTCTTT	NM_001007553	NP_001007554	115272925	O75534	CSDE1_HUMAN	0		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	12	1776	-	C	C	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	Missense_Mutation	437						
CSE1L	1434	broad.mit.edu	GRCh37	20	47688965	47688965	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01	TCGA-06-2564-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262982.2:c.911C>T	p.Thr304Met	p.T304M	ENST00000262982	NM_001316.3	304	aCg/aTg	0			1			T	T/M	uc002xty.2	protein_coding	YES	CCDS13412.1			911/2916									large_intestine(1)|skin(1)	2	c.(910-912)ACG>ATG			Gene3D:1.25.10.10,Pfam_domain:PF08506,hmmpanther:PTHR10997,hmmpanther:PTHR10997:SF8,Superfamily_domains:SSF48371	CSE1 chromosome segregation 1-like protein				ENSP00000262982		25-Sep									COSM2152970	25-Sep	.		ENST00000262982	Transcript			apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	ENSG00000124207	g.chr20:47688965C>T	2431			MODERATE		2.11	medium	getma.org/?cm=msa&ty=f&p=XPO2_HUMAN&rb=156&re=526&var=T304M	getma.org/pdb.php?prot=XPO2_HUMAN&from=156&to=526&var=T304M	getma.org/?cm=var&var=hg19,20,47688965,C,T&fts=all	T304M	--	--	1																																		CSE1L_uc010zyg.1_Missense_Mutation_p.T87M|CSE1L_uc010ghx.2_Intron|CSE1L_uc010ghy.2_Translation_Start_Site|CSE1L_uc010zyh.1_5'Flank	1	1		probably_damaging(0.997)	p.T304M	NM_001316	NP_001307		deleterious(0.04)	1	XPO2_HUMAN	CSE1L	HGNC	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)				9	1045	+			UPI000013D377	304					SNV	CSE1L,missense_variant,p.Thr304Met,ENST00000262982,NM_001316.3,NM_001256135.1;CSE1L,missense_variant,p.Thr87Met,ENST00000542325,;CSE1L,intron_variant,,ENST00000396192,;	uc002xty.2	c.911C>T	1034/3553	1	1			c.911C>T						20	SNP	c.(910-912)ACG>ATG	13	13			large_intestine(1)|skin(1)	2	Broad	CSE1 chromosome segregation 1-like protein			47688965		0.383	ENSG00000124207	3864	g.chr20:47688965C>T	apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity							153.719833	KEEP	28	39	-1	71	75	28	39	-1	159.587302	71	75	0.309392	1	0	0	0	0	1	0	0	0	--	--		0	T			CSE1L_uc010zyg.1_Missense_Mutation_p.T87M|CSE1L_uc010ghx.2_Intron|CSE1L_uc010ghy.2_Translation_Start_Site|CSE1L_uc010zyh.1_5'Flank	87	GBM-06-2564-TP	p.T304M	C	CTAGTTACAACGGGTCAAGAG	NM_001316	NP_001307	47688965	P55060	XPO2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		9	1045	+	T	T			Missense_Mutation	304						
CSF1R	0	broad.mit.edu	GRCh37	5	149456956	149456956	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-32-2495-01	TCGA-32-2495-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286301.3:c.772delC	p.Gln258LysfsTer4	p.Q258Kfs*4	ENST00000286301	NM_005211.3	258	Caa/aa	0			1			-	Q/X	uc003lrl.2	protein_coding	YES	CCDS4302.1			772/2919									haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54	c.(772-774)CAAfs			PROSITE_profiles:PS50835,hmmpanther:PTHR24416:SF47,hmmpanther:PTHR24416,Gene3D:2.60.40.10,Pfam_domain:PF00047,SMART_domains:SM00409,PIRSF_domain:PIRSF500947,PIRSF_domain:PIRSF000615,SMART_domains:SM00408,Superfamily_domains:SSF48726	colony stimulating factor 1 receptor precursor	Imatinib(DB00619)|Sunitinib(DB01268)			ENSP00000286301		22-Jun										22-Jun	.		ENST00000286301	Transcript	1		cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	ENSG00000182578	g.chr5:149456956delG	2433			HIGH								--	--	1																																		CSF1R_uc011dcd.1_Frame_Shift_Del_p.Q110fs|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Frame_Shift_Del_p.Q258fs|CSF1R_uc011dce.1_Frame_Shift_Del_p.Q258fs|CSF1R_uc011dcf.1_Frame_Shift_Del_p.Q258fs		1			p.Q258fs	NM_005211	NP_005202				CSF1R_HUMAN	CSF1R	HGNC	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Q6LEI2_HUMAN,D6RGW1_HUMAN		5	967	-			UPI000004984A	258			Extracellular (Potential).|Ig-like C2-type 3.		deletion	CSF1R,frameshift_variant,p.Gln258LysfsTer4,ENST00000286301,NM_005211.3,NM_001288705.1;CSF1R,frameshift_variant,p.Gln258LysfsTer4,ENST00000543093,;CSF1R,downstream_gene_variant,,ENST00000511344,;CSF1R,frameshift_variant,p.Gln258LysfsTer4,ENST00000504875,;CSF1R,non_coding_transcript_exon_variant,,ENST00000502660,;	uc003lrl.2	c.772delC	1064/3989	5	5			c.772delC						5	DEL	c.(772-774)CAAfs	7	7			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54	Broad	colony stimulating factor 1 receptor precursor		Imatinib(DB00619)|Sunitinib(DB01268)	149456956		0.443	ENSG00000182578	3866	g.chr5:149456956delG	cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			592			592														0.01	1	1	0	1	0	0	0	0	0	--	--		0	-			CSF1R_uc011dcd.1_Frame_Shift_Del_p.Q110fs|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Frame_Shift_Del_p.Q258fs|CSF1R_uc011dce.1_Frame_Shift_Del_p.Q258fs|CSF1R_uc011dcf.1_Frame_Shift_Del_p.Q258fs	237	GBM-32-2495-TP	p.Q258fs	G	AGGACTTTTTGGTAACGGTTA	NM_005211	NP_005202	149456956	P07333	CSF1R_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		5	967	-	-	-			Frame_Shift_Del	258			Extracellular (Potential).|Ig-like C2-type 3.			
CSF2	0	broad.mit.edu	GRCh37	5	131409784	131409784	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-27-2521-01	TCGA-27-2521-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296871.2:c.170T>C	p.Val57Ala	p.V57A	ENST00000296871	NM_000758.3	57	gTa/gCa	0			1			C	V/A	uc003kwf.2	protein_coding	YES	CCDS4150.1			170/435										0	c.(169-171)GTA>GCA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10059,hmmpanther:PTHR10059:SF0,Pfam_domain:PF01109,Gene3D:1.20.1250.10,SMART_domains:SM00040,Superfamily_domains:SSF47266	colony stimulating factor 2 precursor	Sargramostim(DB00020)			ENSP00000296871		4-Feb									COSM3409721	4-Feb	.		ENST00000296871	Transcript			immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity	ENSG00000164400	g.chr5:131409784T>C	2434			MODERATE		1.965	medium	getma.org/?cm=msa&ty=f&p=CSF2_HUMAN&rb=18&re=139&var=V57A	getma.org/pdb.php?prot=CSF2_HUMAN&from=18&to=139&var=V57A	getma.org/?cm=var&var=hg19,5,131409784,T,C&fts=all	V57A	--	--	1																																			1	1		probably_damaging(0.962)	p.V57A	NM_000758	NP_000749		deleterious(0.04)	1	CSF2_HUMAN	CSF2	HGNC	P04141	CSF2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)				2	202	+		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	UPI00000358DB	57					SNV	CSF2,missense_variant,p.Val57Ala,ENST00000296871,NM_000758.3;	uc003kwf.2	c.170T>C	204/783	3	3			c.170T>C						5	SNP	c.(169-171)GTA>GCA	6	6				0	Broad	colony stimulating factor 2 precursor		Sargramostim(DB00020)	131409784		0.517	ENSG00000164400	3867	g.chr5:131409784T>C	immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity			33			33	-4.495197	KEEP	2	4	-1	40	51	2	4	-1	13.376999	40	51	0.057471	1	0	0	0	0	1	0	0	0	--	--		0	C				200	GBM-27-2521-TP	p.V57A	T	AATGAAACAGTAGAAGTCATC	NM_000758	NP_000749	131409784	P04141	CSF2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	202	+	C	C		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	Missense_Mutation	57						
CSF2	0	broad.mit.edu	GRCh37	5	131409540	131409540	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-32-1986-01	TCGA-32-1986-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296871.2:c.24delC	p.Leu9TrpfsTer25	p.L9Wfs*25	ENST00000296871	NM_000758.3	8	ctC/ct	0			1			-	L/X	uc003kwf.2	protein_coding	YES	CCDS4150.1			24/435										0	c.(22-24)CTCfs			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10059,hmmpanther:PTHR10059:SF0	colony stimulating factor 2 precursor	Sargramostim(DB00020)			ENSP00000296871		4-Jan										4-Jan	.		ENST00000296871	Transcript			immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity	ENSG00000164400	g.chr5:131409540delC	2434			HIGH								--	--	1																																				1			p.L8fs	NM_000758	NP_000749				CSF2_HUMAN	CSF2	HGNC	P04141	CSF2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)				1	56	+		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	UPI00000358DB	8					deletion	CSF2,frameshift_variant,p.Leu9TrpfsTer25,ENST00000296871,NM_000758.3;	uc003kwf.2	c.24delC	58/783	5	5			c.24delC						5	DEL	c.(22-24)CTCfs	64	64				0	Broad	colony stimulating factor 2 precursor		Sargramostim(DB00020)	131409540		0.597	ENSG00000164400	3867	g.chr5:131409540delC	immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity			33			33														0.21	1	1	0	1	0	0	0	0	0	--	--		0	-				233	GBM-32-1986-TP	p.L8fs	C	GCCTGCTGCTCTTGGGCACTG	NM_000758	NP_000749	131409540	P04141	CSF2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	56	+	-	-		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	Frame_Shift_Del	8						
CSF2RA	1438		GRCh37	X	1407534	1407534	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000417535.2:c.342A>G		p.X114_splice	ENST00000417535	NM_001161530.1	114	tcA/tcG	0																																																																																																																																																																																																																																												
CSF2RB	1439	broad.mit.edu	GRCh37	22	37328885	37328885	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000403662.3:c.1091G>A	p.Arg364Gln	p.R364Q	ENST00000403662		364	cGa/cAa	0			1			A	R/Q	uc003aqa.3	protein_coding	YES	CCDS13936.1			1091/2694									skin(2)|pancreas(1)	3	c.(1090-1092)CGA>CAA			Gene3D:2.60.40.10,Pfam_domain:PF00041,PIRSF_domain:PIRSF001956,PROSITE_profiles:PS50853,hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF22,SMART_domains:SM00060,Superfamily_domains:SSF49265	colony stimulating factor 2 receptor, beta	Sargramostim(DB00020)			ENSP00000384053		14-Sep	4.12E-05		0.000348					6.11E-05	rs774793372,COSM224098	14-Sep	.		ENST00000403662	Transcript	1		respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	ENSG00000100368	g.chr22:37328885G>A	2436			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=IL3RB_HUMAN&rb=340&re=426&var=R364Q	getma.org/pdb.php?prot=IL3RB_HUMAN&from=340&to=426&var=R364Q	getma.org/?cm=var&var=hg19,22,37328885,G,A&fts=all	R364Q	--	--	1																																		CSF2RB_uc003aqc.3_Missense_Mutation_p.R370Q	0,1	1		benign(0.001)	p.R364Q	NM_000395	NP_000386		tolerated(0.29)	0,1	IL3RB_HUMAN	CSF2RB	HGNC	P32927	IL3RB_HUMAN			B0QY07_HUMAN		9	1308	+			UPI0000128C9F	364			Extracellular (Potential).|Fibronectin type-III 2.		SNV	CSF2RB,missense_variant,p.Arg370Gln,ENST00000262825,NM_000395.2;CSF2RB,missense_variant,p.Arg364Gln,ENST00000403662,;CSF2RB,missense_variant,p.Arg370Gln,ENST00000406230,;CSF2RB,missense_variant,p.Arg311Gln,ENST00000536485,;CSF2RB,downstream_gene_variant,,ENST00000421539,;	uc003aqa.3	c.1091G>A	1313/4863	2	2			c.1091G>A						22	SNP	c.(1090-1092)CGA>CAA	19	19			skin(2)|pancreas(1)	3	Broad	colony stimulating factor 2 receptor, beta		Sargramostim(DB00020)	37328885		0.552	ENSG00000100368	3868	g.chr22:37328885G>A	respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity							93.309561	KEEP	13	18	-1	7	12	13	18	-1	93.686732	7	12	0.595745	1	0	0	0	0	1	0	0	0	--	--		0	A			CSF2RB_uc003aqc.3_Missense_Mutation_p.R370Q	102	GBM-06-5858-TP	p.R364Q	G	ATGAAAATGCGATACGAACAC	NM_000395	NP_000386	37328885	P32927	IL3RB_HUMAN	0			9	1308	+	A	A			Missense_Mutation	364			Extracellular (Potential).|Fibronectin type-III 2.			
CSF2RB	0	broad.mit.edu	GRCh37	22	37325775	37325775	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs149714683		TCGA-26-1439-01	TCGA-26-1439-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000403662.3:c.644G>A	p.Arg215His	p.R215H	ENST00000403662		215	cGc/cAc	0	A:0	A:0	1	A:0		A	R/H	uc003aqa.3	protein_coding	YES	CCDS13936.1			644/2694									skin(2)|pancreas(1)	3	c.(643-645)CGC>CAC			Gene3D:2.60.40.10,PIRSF_domain:PIRSF001956,PROSITE_profiles:PS50853,hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF22,SMART_domains:SM00060,Superfamily_domains:SSF49265	colony stimulating factor 2 receptor, beta	Sargramostim(DB00020)	A:0.001	A:0.0007	ENSP00000384053	A:0	14-Jun	0.000387	0.000198		0.000116		0.000625	0.00342		rs149714683,COSM2156877	14-Jun	common_variant		ENST00000403662	Transcript	1	A:0.0002	respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	ENSG00000100368	g.chr22:37325775G>A	2436			MODERATE		0.995	low	getma.org/?cm=msa&ty=f&p=IL3RB_HUMAN&rb=133&re=233&var=R215H	getma.org/pdb.php?prot=IL3RB_HUMAN&from=133&to=233&var=R215H	getma.org/?cm=var&var=hg19,22,37325775,G,A&fts=all	R215H	--	--	1																																		CSF2RB_uc003aqc.3_Missense_Mutation_p.R215H	0,1	1		benign(0.028)	p.R215H	NM_000395	NP_000386	A:0	tolerated(0.17)	0,1	IL3RB_HUMAN	CSF2RB	HGNC	P32927	IL3RB_HUMAN			B0QY07_HUMAN		6	861	+			UPI0000128C9F	215			Fibronectin type-III 1.|Extracellular (Potential).		SNV	CSF2RB,missense_variant,p.Arg215His,ENST00000262825,NM_000395.2;CSF2RB,missense_variant,p.Arg215His,ENST00000403662,;CSF2RB,missense_variant,p.Arg215His,ENST00000406230,;CSF2RB,missense_variant,p.Arg156His,ENST00000536485,;CSF2RB,missense_variant,p.Arg135His,ENST00000421539,;	uc003aqa.3	c.644G>A	866/4863	2	2			c.644G>A						22	SNP	c.(643-645)CGC>CAC	20	20			skin(2)|pancreas(1)	3	Broad	colony stimulating factor 2 receptor, beta		Sargramostim(DB00020)	37325775		0.647	ENSG00000100368	3868	g.chr22:37325775G>A	respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity							102.411819	KEEP	18	23	-1	21	30	18	23	-1	102.684342	21	30	0.4375	1	0	0	0	0	1	0	0	0	--	--		0	A			CSF2RB_uc003aqc.3_Missense_Mutation_p.R215H	179	GBM-26-1439-TP	p.R215H	G	GTACGGACCCGCCTGGCCCCA	NM_000395	NP_000386	37325775	P32927	IL3RB_HUMAN	0			6	861	+	A	A			Missense_Mutation	215			Fibronectin type-III 1.|Extracellular (Potential).			
CSH2	0	broad.mit.edu	GRCh37	17	61950623	61950623	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-2575-01	TCGA-41-2575-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392886.2:c.87C>T	p.Thr29=	p.T29=	ENST00000392886	NM_020991.3	29	acC/acT	0			1			A	T	uc002jch.2	protein_coding	YES	CCDS42369.1			87/654										0	c.(85-87)ACC>ACT			Gene3D:1.20.1250.10,Pfam_domain:PF00103,hmmpanther:PTHR11417,hmmpanther:PTHR11417:SF32,Superfamily_domains:SSF47266	chorionic somatomammotropin hormone 2 isoform 1				ENSP00000376623		5-Feb	2.47E-05					4.50E-05			rs753371030,COSM3403113,COSM3403112	5-Feb	.		ENST00000392886	Transcript			female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	ENSG00000213218	g.chr17:61950623G>A	2441			LOW								--	--	1																																		CSH2_uc002jcg.2_Silent_p.T29T|CSH2_uc002jci.2_Silent_p.T29T|GH2_uc002jcj.2_Intron|CSH2_uc002jck.2_Silent_p.T29T	0,1,1	1			p.T29T	NM_020991	NP_066271			0,1,1	CSH_HUMAN	CSH2	HGNC	P01243	CSH_HUMAN			Q7KZ35_HUMAN,P78451_HUMAN		2	202	-			UPI0000073C6A	29					SNV	CSH2,synonymous_variant,p.=,ENST00000336844,NM_022644.3;CSH2,synonymous_variant,p.=,ENST00000392886,NM_020991.3;CSH2,synonymous_variant,p.=,ENST00000345366,NM_022645.2;CSH2,intron_variant,,ENST00000560142,;CSH2,non_coding_transcript_exon_variant,,ENST00000559928,;CSH2,non_coding_transcript_exon_variant,,ENST00000558516,;	uc002jch.2	c.87C>T	239/920	2	2			c.87C>T						17	SNP	c.(85-87)ACC>ACT	47	47				0	Broad	chorionic somatomammotropin hormone 2 isoform 1			61950623		0.597	ENSG00000213218	3874	g.chr17:61950623G>A	female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding							80.57777	KEEP	13	23	-1	71	58	13	23	-1	91.625152	71	58	0.220779	1	0	0	0	0	0	0	1	0	--	--		0	A			CSH2_uc002jcg.2_Silent_p.T29T|CSH2_uc002jci.2_Silent_p.T29T|GH2_uc002jcj.2_Intron|CSH2_uc002jck.2_Silent_p.T29T	253	GBM-41-2575-TP	p.T29T	G	ATAACGGAACGGTTTGGACGG	NM_020991	NP_066271	61950623	P01243	CSH_HUMAN	0			2	202	-	A	A			Silent	29						
CSH2	1443		GRCh37	17	61949661	61949661	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000392886.2:c.479G>A	p.Arg160Gln	p.R160Q	ENST00000392886	NM_020991.3	160	cGg/cAg	0																																																																																																																																																																																																																																												
CSK	1445		GRCh37	15	75092831	75092831	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000220003.9:c.541G>A	p.Asp181Asn	p.D181N	ENST00000220003	NM_004383.2	181	Gat/Aat	0																																																																																																																																																																																																																																												
CSMD1	64478	broad.mit.edu	GRCh37	8	3889525	3889525	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0211-01	TCGA-06-0211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000537824.1:c.512G>A	p.Cys171Tyr	p.C171Y	ENST00000537824	NM_033225.5	171	tGc/tAc	0			1			T	C/Y	uc011kwk.1	protein_coding	YES	CCDS55189.1			512/10695									breast(20)|large_intestine(5)	25	c.(511-513)TGC>TAC			PROSITE_profiles:PS50923,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	CUB and Sushi multiple domains 1 precursor				ENSP00000441462		Apr-70									COSM3413010,COSM3413011	Apr-70	.		ENST00000537824	Transcript				integral to membrane		ENSG00000183117	g.chr8:3889525C>T	14026			MODERATE		4.435	high	getma.org/?cm=msa&ty=f&p=CSMD1_HUMAN&rb=145&re=202&var=C171Y	getma.org/pdb.php?prot=CSMD1_HUMAN&from=145&to=202&var=C171Y	getma.org/?cm=var&var=hg19,8,3889525,C,T&fts=all	C171Y	--	--	1																																			1,1	1		probably_damaging(0.999)	p.C171Y	NM_033225	NP_150094			1,1		CSMD1	HGNC	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	F5GZ18_HUMAN		4	902	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	UPI0001B723C6	171			Extracellular (Potential).|Sushi 1.		SNV	CSMD1,missense_variant,p.Cys171Tyr,ENST00000602557,;CSMD1,missense_variant,p.Cys171Tyr,ENST00000520002,;CSMD1,missense_variant,p.Cys171Tyr,ENST00000400186,;CSMD1,missense_variant,p.Cys171Tyr,ENST00000602723,;CSMD1,missense_variant,p.Cys171Tyr,ENST00000537824,NM_033225.5;CSMD1,missense_variant,p.Cys171Tyr,ENST00000542608,;CSMD1,missense_variant,p.Cys171Tyr,ENST00000539096,;	uc011kwk.1	c.512G>A	512/10695	2	2			c.512G>A						8	SNP	c.(511-513)TGC>TAC	39	39			breast(20)|large_intestine(5)	25	Broad	CUB and Sushi multiple domains 1 precursor			3889525		0.512	ENSG00000183117	3877	g.chr8:3889525C>T		integral to membrane								192.788741	KEEP	39	36	-1	29	32	39	36	-1	193.19053	29	32	0.561983	1	0	0	0	0	1	0	0	0	--	--		0	T				48	GBM-06-0211-TP	p.C171Y	C	GCCAGGGAGGCAGCTGTACCG	NM_033225	NP_150094	3889525	Q96PZ7	CSMD1_HUMAN	0		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	4	902	-	T	T		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	Missense_Mutation	171			Extracellular (Potential).|Sushi 1.			
CSMD1	64478	broad.mit.edu	GRCh37	8	2855644	2855644	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0881-01	TCGA-06-0881-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000537824.1:c.8266C>G	p.Leu2756Val	p.L2756V	ENST00000537824	NM_033225.5	2756	Ctg/Gtg	0			1			C	L/V	uc011kwk.1	protein_coding	YES	CCDS55189.1			8266/10695									breast(20)|large_intestine(5)	25	c.(8269-8271)CTG>GTG			PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF323,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	CUB and Sushi multiple domains 1 precursor				ENSP00000441462		54/70									COSM3412967,COSM3412966	54/70	.		ENST00000537824	Transcript				integral to membrane		ENSG00000183117	g.chr8:2855644G>C	14026			MODERATE		0.335	neutral	getma.org/?cm=msa&ty=f&p=CSMD1_HUMAN&rb=2739&re=2792&var=L2757V	getma.org/pdb.php?prot=CSMD1_HUMAN&from=2739&to=2792&var=L2757V	getma.org/?cm=var&var=hg19,8,2855644,G,C&fts=all	L2757V	--	--	1																																		CSMD1_uc011kwj.1_Missense_Mutation_p.L2086V|CSMD1_uc010lrg.2_Missense_Mutation_p.L767V	1,1	1		probably_damaging(0.999)	p.L2757V	NM_033225	NP_150094			1,1		CSMD1	HGNC	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	F5GZ18_HUMAN		54	8659	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	UPI0001B723C6	2757			Extracellular (Potential).|Sushi 19.		SNV	CSMD1,missense_variant,p.Leu2174Val,ENST00000335551,;CSMD1,missense_variant,p.Leu2757Val,ENST00000520002,;CSMD1,missense_variant,p.Leu2757Val,ENST00000602557,;CSMD1,missense_variant,p.Leu2699Val,ENST00000400186,;CSMD1,missense_variant,p.Leu2699Val,ENST00000602723,;CSMD1,missense_variant,p.Leu2756Val,ENST00000537824,NM_033225.5;CSMD1,missense_variant,p.Leu2698Val,ENST00000542608,;CSMD1,downstream_gene_variant,,ENST00000519623,;	uc011kwk.1	c.8269C>G	8266/10695	3	3			c.8269C>G						8	SNP	c.(8269-8271)CTG>GTG	49	49			breast(20)|large_intestine(5)	25	Broad	CUB and Sushi multiple domains 1 precursor			2855644		0.527	ENSG00000183117	3877	g.chr8:2855644G>C		integral to membrane								-17.476899	KEEP	5	1	-1	80	62	5	1	-1	13.911218	80	62	0.042857	1	0	0	0	0	1	0	0	0	--	--		0	C			CSMD1_uc011kwj.1_Missense_Mutation_p.L2086V|CSMD1_uc010lrg.2_Missense_Mutation_p.L767V	76	GBM-06-0881-TP	p.L2757V	G	ACATCATTCAGGTTGAACTCA	NM_033225	NP_150094	2855644	Q96PZ7	CSMD1_HUMAN	0		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	54	8659	-	C	C		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	Missense_Mutation	2757			Extracellular (Potential).|Sushi 19.			
CSMD1	0	broad.mit.edu	GRCh37	8	2832079	2832079	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0821-01	TCGA-12-0821-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000537824.1:c.8634C>T	p.Gly2878=	p.G2878=	ENST00000537824	NM_033225.5	2878	ggC/ggT	0			1			A	G	uc011kwk.1	protein_coding	YES	CCDS55189.1			8634/10695									breast(20)|large_intestine(5)	25	c.(8635-8637)GGC>GGT			PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF323,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	CUB and Sushi multiple domains 1 precursor				ENSP00000441462		56/70	1.65E-05					1.62E-05			rs776260093,COSM295873,COSM295874	56/70	.		ENST00000537824	Transcript				integral to membrane		ENSG00000183117	g.chr8:2832079G>A	14026			LOW								--	--	1																																		CSMD1_uc011kwj.1_Silent_p.G2208G|CSMD1_uc010lrg.2_Silent_p.G889G	0,1,1	1			p.G2879G	NM_033225	NP_150094			0,1,1		CSMD1	HGNC	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	F5GZ18_HUMAN		56	9027	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	UPI0001B723C6	2879			Sushi 21.|Extracellular (Potential).		SNV	CSMD1,synonymous_variant,p.=,ENST00000335551,;CSMD1,synonymous_variant,p.=,ENST00000520002,;CSMD1,synonymous_variant,p.=,ENST00000602557,;CSMD1,synonymous_variant,p.=,ENST00000602723,;CSMD1,synonymous_variant,p.=,ENST00000400186,;CSMD1,synonymous_variant,p.=,ENST00000537824,NM_033225.5;CSMD1,synonymous_variant,p.=,ENST00000542608,;	uc011kwk.1	c.8637C>T	8634/10695	2	2			c.8637C>T						8	SNP	c.(8635-8637)GGC>GGT	17	17			breast(20)|large_intestine(5)	25	Broad	CUB and Sushi multiple domains 1 precursor			2832079		0.557	ENSG00000183117	3877	g.chr8:2832079G>A		integral to membrane								72.129396	KEEP	15	13	-1	20	22	15	13	-1	72.420689	20	22	0.42623	1	0	0	0	0	0	0	1	0	--	--		0	A			CSMD1_uc011kwj.1_Silent_p.G2208G|CSMD1_uc010lrg.2_Silent_p.G889G	123	GBM-12-0821-TP	p.G2879G	G	GCACGACGGCGCCATAGGTAA	NM_033225	NP_150094	2832079	Q96PZ7	CSMD1_HUMAN	0		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	56	9027	-	A	A		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	Silent	2879			Sushi 21.|Extracellular (Potential).			
CSMD1	0	broad.mit.edu	GRCh37	8	4277522	4277522	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000537824.1:c.368C>T	p.Thr123Met	p.T123M	ENST00000537824	NM_033225.5	123	aCg/aTg	0			1			A	T/M	uc011kwk.1	protein_coding	YES	CCDS55189.1			368/10695									breast(20)|large_intestine(5)	25	c.(367-369)ACG>ATG			PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	CUB and Sushi multiple domains 1 precursor				ENSP00000441462		Mar-70	4.16E-05			0.000471		5.38E-05			rs781692154,COSM3413032,COSM3413033	Mar-70	common_variant		ENST00000537824	Transcript				integral to membrane		ENSG00000183117	g.chr8:4277522G>A	14026			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=CSMD1_HUMAN&rb=32&re=137&var=T123M	getma.org/pdb.php?prot=CSMD1_HUMAN&from=32&to=137&var=T123M	getma.org/?cm=var&var=hg19,8,4277522,G,A&fts=all	T123M	--	--	1																																			0,1,1	1		probably_damaging(0.995)	p.T123M	NM_033225	NP_150094			0,1,1		CSMD1	HGNC	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	F5GZ18_HUMAN		3	758	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	UPI0001B723C6	123			Extracellular (Potential).|CUB 1.		SNV	CSMD1,missense_variant,p.Thr123Met,ENST00000602557,;CSMD1,missense_variant,p.Thr123Met,ENST00000520002,;CSMD1,missense_variant,p.Thr123Met,ENST00000400186,;CSMD1,missense_variant,p.Thr123Met,ENST00000602723,;CSMD1,missense_variant,p.Thr123Met,ENST00000537824,NM_033225.5;CSMD1,missense_variant,p.Thr123Met,ENST00000542608,;CSMD1,missense_variant,p.Thr123Met,ENST00000539096,;	uc011kwk.1	c.368C>T	368/10695	2	2			c.368C>T						8	SNP	c.(367-369)ACG>ATG	30	30			breast(20)|large_intestine(5)	25	Broad	CUB and Sushi multiple domains 1 precursor			4277522		0.403	ENSG00000183117	3877	g.chr8:4277522G>A		integral to membrane								21.321435	KEEP	3	5	-1	4	8	3	5	-1	21.437159	4	8	0.411765	1	0	0	0	0	1	0	0	0	--	--		0	A				125	GBM-12-3649-TP	p.T123M	G	GAAGTCTGTCGTGAACCACAG	NM_033225	NP_150094	4277522	Q96PZ7	CSMD1_HUMAN	0		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	3	758	-	A	A		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	Missense_Mutation	123			Extracellular (Potential).|CUB 1.			
CSMD1	0	broad.mit.edu	GRCh37	8	3057257	3057257	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01	TCGA-19-5950-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000537824.1:c.5173G>A	p.Gly1725Ser	p.G1725S	ENST00000537824	NM_033225.5	1725	Ggc/Agc	0			1			T	G/S	uc011kwk.1	protein_coding	YES	CCDS55189.1			5173/10695									breast(20)|large_intestine(5)	25	c.(5176-5178)GGC>AGC			PROSITE_profiles:PS01180,hmmpanther:PTHR19325:SF323,hmmpanther:PTHR19325,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	CUB and Sushi multiple domains 1 precursor				ENSP00000441462		33/70									COSM3412971,COSM3412970,COSM3412972	33/70	.		ENST00000537824	Transcript				integral to membrane		ENSG00000183117	g.chr8:3057257C>T	14026			MODERATE		4.015	high	getma.org/?cm=msa&ty=f&p=CSMD1_HUMAN&rb=1626&re=1731&var=G1726S	getma.org/pdb.php?prot=CSMD1_HUMAN&from=1626&to=1731&var=G1726S	getma.org/?cm=var&var=hg19,8,3057257,C,T&fts=all	G1726S	--	--	1																																		CSMD1_uc011kwj.1_Missense_Mutation_p.G1118S|CSMD1_uc003wqe.2_Missense_Mutation_p.G882S	1,1,1	1		probably_damaging(0.993)	p.G1726S	NM_033225	NP_150094			1,1,1		CSMD1	HGNC	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	F5GZ18_HUMAN		33	5566	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	UPI0001B723C6	1726			Extracellular (Potential).|CUB 10.		SNV	CSMD1,missense_variant,p.Gly1206Ser,ENST00000335551,;CSMD1,missense_variant,p.Gly1726Ser,ENST00000602557,;CSMD1,missense_variant,p.Gly1726Ser,ENST00000520002,;CSMD1,missense_variant,p.Gly1726Ser,ENST00000400186,;CSMD1,missense_variant,p.Gly1726Ser,ENST00000602723,;CSMD1,missense_variant,p.Gly1725Ser,ENST00000537824,NM_033225.5;CSMD1,missense_variant,p.Gly1725Ser,ENST00000542608,;CSMD1,missense_variant,p.Gly1725Ser,ENST00000539096,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523387,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523488,;	uc011kwk.1	c.5176G>A	5173/10695	2	2			c.5176G>A						8	SNP	c.(5176-5178)GGC>AGC	24	24			breast(20)|large_intestine(5)	25	Broad	CUB and Sushi multiple domains 1 precursor			3057257		0.512	ENSG00000183117	3877	g.chr8:3057257C>T		integral to membrane								9.122107	KEEP	1	2	-1	4	2	1	2	-1	9.343459	4	2	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	T			CSMD1_uc011kwj.1_Missense_Mutation_p.G1118S|CSMD1_uc003wqe.2_Missense_Mutation_p.G882S	170	GBM-19-5950-TP	p.G1726S	C	AAGTGGAAGCCGCGGGCAGAG	NM_033225	NP_150094	3057257	Q96PZ7	CSMD1_HUMAN	0		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	33	5566	-	T	T		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	Missense_Mutation	1726			Extracellular (Potential).|CUB 10.			
CSMD1	0	broad.mit.edu	GRCh37	8	3216774	3216774	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-1837-01	TCGA-27-1837-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000537824.1:c.3204G>A	p.Thr1068=	p.T1068=	ENST00000537824	NM_033225.5	1068	acG/acA	0	T:0.0007		1			T	T	uc011kwk.1	protein_coding	YES	CCDS55189.1			3204/10695									breast(20)|large_intestine(5)	25	c.(3205-3207)ACG>ACA			PROSITE_profiles:PS50923,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	CUB and Sushi multiple domains 1 precursor			T:0	ENSP00000441462		21/70	4.12E-05	0.000197		0.000116		1.50E-05			rs370198228,COSM3412982,COSM3412981,COSM3412983	21/70	.		ENST00000537824	Transcript				integral to membrane		ENSG00000183117	g.chr8:3216774C>T	14026			LOW								--	--	1																																		CSMD1_uc011kwj.1_Silent_p.T461T|CSMD1_uc003wqe.2_Silent_p.T225T	0,1,1,1	1			p.T1069T	NM_033225	NP_150094			0,1,1,1		CSMD1	HGNC	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	F5GZ18_HUMAN		21	3597	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	UPI0001B723C6	1069			Sushi 6.|Extracellular (Potential).		SNV	CSMD1,synonymous_variant,p.=,ENST00000335551,;CSMD1,synonymous_variant,p.=,ENST00000602557,;CSMD1,synonymous_variant,p.=,ENST00000520002,;CSMD1,synonymous_variant,p.=,ENST00000400186,;CSMD1,synonymous_variant,p.=,ENST00000602723,;CSMD1,synonymous_variant,p.=,ENST00000537824,NM_033225.5;CSMD1,synonymous_variant,p.=,ENST00000542608,;CSMD1,synonymous_variant,p.=,ENST00000539096,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523488,;	uc011kwk.1	c.3207G>A	3204/10695	1	1			c.3207G>A						8	SNP	c.(3205-3207)ACG>ACA	9	9			breast(20)|large_intestine(5)	25	Broad	CUB and Sushi multiple domains 1 precursor			3216774		0.552	ENSG00000183117	3877	g.chr8:3216774C>T		integral to membrane								81.581402	KEEP	13	21	-1	21	28	13	21	-1	82.203965	21	28	0.405063	1	0	0	0	0	0	0	1	0	--	--		0	T			CSMD1_uc011kwj.1_Silent_p.T461T|CSMD1_uc003wqe.2_Silent_p.T225T	196	GBM-27-1837-TP	p.T1069T	C	AGCAGGAAAACGTCAGAGAGT	NM_033225	NP_150094	3216774	Q96PZ7	CSMD1_HUMAN	0		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	21	3597	-	T	T		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	Silent	1069			Sushi 6.|Extracellular (Potential).			
CSMD2	114784	broad.mit.edu	GRCh37	1	34035009	34035009	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	T	T	C	rs143469891	byFrequency;by1000genomes	TCGA-06-0130-01	TCGA-06-0130-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000241312.4:c.8102A>G	p.Asn2701Ser	p.N2701S	ENST00000241312		2701	aAt/aGt	0	C:0.0032	C:0.0015	1	C:0		C	N/S	uc001bxn.1	nonsense_mediated_decay	YES	CCDS380.1			8102/10464									ovary(6)|skin(5)|pancreas(1)	12	c.(8101-8103)AAT>AGT			Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF334,SMART_domains:SM00032,Superfamily_domains:SSF57535	CUB and Sushi multiple domains 2		C:0	C:0.0001	ENSP00000241312	C:0	53/70	0.000305	0.00317		0.000116		3.00E-05		6.08E-05	rs143469891,COSM2149533,COSM2149534	53/70	common_variant		ENST00000241312	Transcript		C:0.0006		integral to membrane|plasma membrane	protein binding	ENSG00000121904	g.chr1:34035009T>C	19290			MODERATE		0.575	neutral	getma.org/?cm=msa&ty=f&p=CSMD2_HUMAN&rb=2658&re=2711&var=N2701S	getma.org/pdb.php?prot=CSMD2_HUMAN&from=2658&to=2711&var=N2701S	getma.org/?cm=var&var=hg19,1,34035009,T,C&fts=all	N2701S	--	--	1																																		CSMD2_uc001bxm.1_Missense_Mutation_p.N2699S	0,1,1	1		possibly_damaging(0.773)	p.N2701S	NM_052896	NP_443128	C:0.001	tolerated(0.4)	0,1,1	CSMD2_HUMAN	CSMD2	HGNC	Q7Z408	CSMD2_HUMAN					53	8131	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	UPI00004561AB	2701			Sushi 17.|Extracellular (Potential).		SNV	CSMD2,missense_variant,p.Asn2699Ser,ENST00000373381,NM_052896.3,NM_001281956.1;CSMD2,non_coding_transcript_exon_variant,,ENST00000465819,;CSMD2,missense_variant,p.Asn2701Ser,ENST00000241312,;	uc001bxn.1	c.8102A>G	8131/13108	3	3			c.8102A>G						1	SNP	c.(8101-8103)AAT>AGT	13	13			ovary(6)|skin(5)|pancreas(1)	12	Broad	CUB and Sushi multiple domains 2			34035009		0.547	ENSG00000121904	3878	g.chr1:34035009T>C		integral to membrane|plasma membrane	protein binding							59.191638	KEEP	12	13	-1	42	57	12	13	-1	67.590165	42	57	0.207547	1	0	0	0	0	1	0	0	0	--	--		0	C			CSMD2_uc001bxm.1_Missense_Mutation_p.N2699S	16	GBM-06-0130-TP	p.N2701S	T	CCAGAGCCCATTGGCCATGCA	NM_052896	NP_443128	34035009	Q7Z408	CSMD2_HUMAN	0			53	8131	-	C	C		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	Missense_Mutation	2701			Sushi 17.|Extracellular (Potential).			
CSMD2	114784	broad.mit.edu	GRCh37	1	34209005	34209005	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	G	G	A	rs141295499		TCGA-06-0649-01	TCGA-06-0649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000241312.4:c.1929C>T	p.Pro643=	p.P643=	ENST00000241312		643	ccC/ccT	0	A:0.0002		1			A	P	uc001bxn.1	nonsense_mediated_decay	YES	CCDS380.1			1929/10464									ovary(6)|skin(5)|pancreas(1)	12	c.(1927-1929)CCC>CCT			Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854	CUB and Sushi multiple domains 2			A:0	ENSP00000241312		14/70	1.65E-05	9.62E-05		0.000116					rs141295499,COSM3400704,COSM3400705	14/70	.		ENST00000241312	Transcript				integral to membrane|plasma membrane	protein binding	ENSG00000121904	g.chr1:34209005G>A	19290			LOW								--	--	1																																		CSMD2_uc001bxm.1_Silent_p.P683P	0,1,1	1			p.P643P	NM_052896	NP_443128			0,1,1	CSMD2_HUMAN	CSMD2	HGNC	Q7Z408	CSMD2_HUMAN					14	1958	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	UPI00004561AB	643			Extracellular (Potential).|CUB 4.		SNV	CSMD2,synonymous_variant,p.=,ENST00000373381,NM_052896.3,NM_001281956.1;CSMD2,synonymous_variant,p.=,ENST00000241312,;	uc001bxn.1	c.1929C>T	1958/13108	2	2			c.1929C>T						1	SNP	c.(1927-1929)CCC>CCT	32	32			ovary(6)|skin(5)|pancreas(1)	12	Broad	CUB and Sushi multiple domains 2			34209005		0.612	ENSG00000121904	3878	g.chr1:34209005G>A		integral to membrane|plasma membrane	protein binding							-14.893566	KEEP	7	1	-1	66	58	7	1	-1	10.289336	66	58	0.050847	1	0	0	0	0	0	0	1	0	--	--		0	A			CSMD2_uc001bxm.1_Silent_p.P683P	62	GBM-06-0649-TP	p.P643P	G	TGCCCAGGACGGGCGCCTCGG	NM_052896	NP_443128	34209005	Q7Z408	CSMD2_HUMAN	0			14	1958	-	A	A		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	Silent	643			Extracellular (Potential).|CUB 4.			
CSMD2	114784	broad.mit.edu	GRCh37	1	34070881	34070881	+	splice_donor_variant,NMD_transcript_variant	Splice_Site	SNP	C	C	T			TCGA-06-0876-01	TCGA-06-0876-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000241312.4:c.6538+1G>A		p.X2180_splice	ENST00000241312		2180		0			1			T		uc001bxn.1	nonsense_mediated_decay	YES	CCDS380.1			6538/10464									ovary(6)|skin(5)|pancreas(1)	12	c.e43+1				CUB and Sushi multiple domains 2				ENSP00000241312											COSM3400700,COSM3400701,COSM3400702		.		ENST00000241312	Transcript				integral to membrane|plasma membrane	protein binding	ENSG00000121904	g.chr1:34070881C>T	19290			HIGH	43/69							--	--	1																																		CSMD2_uc001bxm.1_Splice_Site_p.V2178_splice|CSMD2_uc001bxo.1_Splice_Site_p.V1051_splice	1,1,1	1			p.V2180_splice	NM_052896	NP_443128			1,1,1	CSMD2_HUMAN	CSMD2	HGNC	Q7Z408	CSMD2_HUMAN					43	6567	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	UPI00004561AB						SNV	CSMD2,splice_donor_variant,,ENST00000373381,NM_052896.3,NM_001281956.1;CSMD2,splice_donor_variant,,ENST00000373380,;CSMD2,splice_donor_variant,,ENST00000373388,;CSMD2,splice_donor_variant,,ENST00000373377,;CSMD2,upstream_gene_variant,,ENST00000489419,;CSMD2,splice_donor_variant,,ENST00000241312,;	uc001bxn.1	c.6538_splice	-/13108	5	1			c.6538_splice						1	SNP	c.e43+1	1	1			ovary(6)|skin(5)|pancreas(1)	12	Broad	CUB and Sushi multiple domains 2			34070881		0.587	ENSG00000121904	3878	g.chr1:34070881C>T		integral to membrane|plasma membrane	protein binding							27.007095	KEEP	6	7	-1	21	14	6	7	-1	29.504811	21	14	0.25	1	0	0	0	0	0	0	0	1	--	--		0	T			CSMD2_uc001bxm.1_Splice_Site_p.V2178_splice|CSMD2_uc001bxo.1_Splice_Site_p.V1051_splice	72	GBM-06-0876-TP	p.V2180_splice	C	GAGCGACATACCTTCACACTT	NM_052896	NP_443128	34070881	Q7Z408	CSMD2_HUMAN	0			43	6567	-	T	T		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	Splice_Site							
CSMD2	0	broad.mit.edu	GRCh37	1	34123559	34123559	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	C	C	T			TCGA-76-6285-01	TCGA-76-6285-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000241312.4:c.4314G>A	p.Pro1438=	p.P1438=	ENST00000241312		1438	ccG/ccA	0			1			T	P	uc001bxn.1	nonsense_mediated_decay	YES	CCDS380.1			4314/10464									ovary(6)|skin(5)|pancreas(1)	12	c.(4312-4314)CCG>CCA			Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,SMART_domains:SM00032,Superfamily_domains:SSF57535	CUB and Sushi multiple domains 2				ENSP00000241312		27/70	2.47E-05					3.02E-05		6.46E-05	rs750813964,COSM2079343,COSM2079344	27/70	.		ENST00000241312	Transcript				integral to membrane|plasma membrane	protein binding	ENSG00000121904	g.chr1:34123559C>T	19290			LOW								--	--	1																																		CSMD2_uc001bxm.1_Silent_p.P1478P|CSMD2_uc001bxo.1_Silent_p.P351P	0,1,1	1			p.P1438P	NM_052896	NP_443128			0,1,1	CSMD2_HUMAN	CSMD2	HGNC	Q7Z408	CSMD2_HUMAN					27	4343	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	UPI00004561AB	1438			Extracellular (Potential).|Sushi 8.		SNV	CSMD2,synonymous_variant,p.=,ENST00000373381,NM_052896.3,NM_001281956.1;CSMD2,synonymous_variant,p.=,ENST00000373380,;CSMD2,5_prime_UTR_variant,,ENST00000373388,;CSMD2,synonymous_variant,p.=,ENST00000241312,;	uc001bxn.1	c.4314G>A	4343/13108	1	1			c.4314G>A						1	SNP	c.(4312-4314)CCG>CCA	5	5			ovary(6)|skin(5)|pancreas(1)	12	Broad	CUB and Sushi multiple domains 2			34123559		0.572	ENSG00000121904	3878	g.chr1:34123559C>T		integral to membrane|plasma membrane	protein binding							122.010442	KEEP	23	23	-1	26	31	23	23	-1	122.291398	26	31	0.442105	1	0	0	0	0	0	0	1	0	--	--		0	T			CSMD2_uc001bxm.1_Silent_p.P1478P|CSMD2_uc001bxo.1_Silent_p.P351P	280	GBM-76-6285-TP	p.P1438P	C	TGCATGTTGGCGGGCTGGGCT	NM_052896	NP_443128	34123559	Q7Z408	CSMD2_HUMAN	0			27	4343	-	T	T		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	Silent	1438			Extracellular (Potential).|Sushi 8.			
CSMD3	114788	broad.mit.edu	GRCh37	8	114326801	114326801	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A			TCGA-02-2486-01	TCGA-02-2486-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297405.5:c.400A>T	p.Arg134Trp	p.R134W	ENST00000297405	NM_198123.1	134	Agg/Tgg	0			1			A	R/W	uc003ynu.2	protein_coding	YES	CCDS6315.1			400/11124									ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63	c.(400-402)AGG>TGG			Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854	CUB and Sushi multiple domains 3 isoform 1				ENSP00000297405		Feb-71									COSM3412694,COSM3412695	Feb-71	.		ENST00000297405	Transcript				integral to membrane|plasma membrane		ENSG00000164796	g.chr8:114326801T>A	19291			MODERATE		2.795	medium	getma.org/?cm=msa&ty=f&p=CSMD3_HUMAN&rb=65&re=170&var=R134W	getma.org/pdb.php?prot=CSMD3_HUMAN&from=65&to=170&var=R134W	getma.org/?cm=var&var=hg19,8,114326801,T,A&fts=all	R134W	--	--	1				HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																														CSMD3_uc003ynt.2_Missense_Mutation_p.R94W|CSMD3_uc011lhx.1_Missense_Mutation_p.R134W|CSMD3_uc010mcx.1_Missense_Mutation_p.R134W|CSMD3_uc003ynx.3_Missense_Mutation_p.R134W	1,1	1		probably_damaging(0.92)	p.R134W	NM_198123	NP_937756		deleterious(0.03)	1,1	CSMD3_HUMAN	CSMD3	HGNC	Q7Z407	CSMD3_HUMAN					2	559	-			UPI00001E0584	134			Extracellular (Potential).|CUB 1.		SNV	CSMD3,missense_variant,p.Arg134Trp,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Arg94Trp,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Arg134Trp,ENST00000352409,;CSMD3,missense_variant,p.Arg134Trp,ENST00000455883,NM_052900.2;CSMD3,splice_region_variant,,ENST00000497026,;CSMD3,non_coding_transcript_exon_variant,,ENST00000493303,;	uc003ynu.2	c.400A>T	645/13212	1	1			c.400A>T						8	SNP	c.(400-402)AGG>TGG	62	62			ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63	Broad	CUB and Sushi multiple domains 3 isoform 1			114326801		0.303	ENSG00000164796	3879	g.chr8:114326801T>A		integral to membrane|plasma membrane				2888			2888	3.994105	KEEP	7	4	-1	45	53	7	4	-1	21.219205	45	53	0.089109	1	0	0	0	0	1	0	0	0	--	--	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	0	A			CSMD3_uc003ynt.2_Missense_Mutation_p.R94W|CSMD3_uc011lhx.1_Missense_Mutation_p.R134W|CSMD3_uc010mcx.1_Missense_Mutation_p.R134W|CSMD3_uc003ynx.3_Missense_Mutation_p.R134W	8	GBM-02-2486-TP	p.R134W	T	CACACTAACCTTGTCCTAAAG	NM_198123	NP_937756	114326801	Q7Z407	CSMD3_HUMAN	0			2	559	-	A	A			Missense_Mutation	134			Extracellular (Potential).|CUB 1.			
CSMD3	114788	broad.mit.edu	GRCh37	8	113256758	113256758	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01	TCGA-06-0219-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297405.5:c.10267G>A	p.Val3423Ile	p.V3423I	ENST00000297405	NM_198123.1	3423	Gta/Ata	0	T:0.0002		1			T	V/I	uc003ynu.2	protein_coding	YES	CCDS6315.1			10267/11124								p.V3423I(1)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63	c.(10267-10269)GTA>ATA			Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44,SMART_domains:SM00032,Superfamily_domains:SSF57535	CUB and Sushi multiple domains 3 isoform 1			T:0.0001	ENSP00000297405		65/71	0.000107	0.000481				0.00012			rs376616443,COSM42990,COSM1454143	65/71	common_variant		ENST00000297405	Transcript				integral to membrane|plasma membrane		ENSG00000164796	g.chr8:113256758C>T	19291			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=CSMD3_HUMAN&rb=3411&re=3466&var=V3423I	getma.org/pdb.php?prot=CSMD3_HUMAN&from=3411&to=3466&var=V3423I	getma.org/?cm=var&var=hg19,8,113256758,C,T&fts=all	V3423I	--	--	1				HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																														CSMD3_uc003yns.2_Missense_Mutation_p.V2625I|CSMD3_uc003ynt.2_Missense_Mutation_p.V3383I|CSMD3_uc011lhx.1_Missense_Mutation_p.V3254I	0,1,1	1		benign(0.028)	p.V3423I	NM_198123	NP_937756		tolerated(0.4)	0,1,1	CSMD3_HUMAN	CSMD3	HGNC	Q7Z407	CSMD3_HUMAN					65	10426	-			UPI00001E0584	3423			Extracellular (Potential).|Sushi 28.		SNV	CSMD3,missense_variant,p.Val3423Ile,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Val3383Ile,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Val3353Ile,ENST00000352409,;CSMD3,missense_variant,p.Val3254Ile,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Val2693Ile,ENST00000339701,;CSMD3,non_coding_transcript_exon_variant,,ENST00000534172,;	uc003ynu.2	c.10267G>A	10512/13212	2	2			c.10267G>A						8	SNP	c.(10267-10269)GTA>ATA	43	43		p.V3423I(1)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63	Broad	CUB and Sushi multiple domains 3 isoform 1			113256758		0.393	ENSG00000164796	3879	g.chr8:113256758C>T		integral to membrane|plasma membrane				2888			2888	81.084921	KEEP	21	17	-1	46	54	21	17	-1	86.91862	46	54	0.264957	1	0	0	0	0	1	0	0	0	--	--	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	0	T			CSMD3_uc003yns.2_Missense_Mutation_p.V2625I|CSMD3_uc003ynt.2_Missense_Mutation_p.V3383I|CSMD3_uc011lhx.1_Missense_Mutation_p.V3254I	52	GBM-06-0219-TP	p.V3423I	C	TCCATCCCTACGACATTTGCA	NM_198123	NP_937756	113256758	Q7Z407	CSMD3_HUMAN	0			65	10426	-	T	T			Missense_Mutation	3423			Extracellular (Potential).|Sushi 28.			
CSMD3	114788	broad.mit.edu	GRCh37	8	113702122	113702122	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297405.5:c.2130G>A	p.Trp710Ter	p.W710*	ENST00000297405	NM_198123.1	710	tgG/tgA	0			1			T	W/*	uc003ynu.2	protein_coding	YES	CCDS6315.1			2130/11124									ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63	c.(2128-2130)TGG>TGA			Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,SMART_domains:SM00032,Superfamily_domains:SSF57535	CUB and Sushi multiple domains 3 isoform 1				ENSP00000297405		14/71									COSM3412692,COSM3412693	14/71	.		ENST00000297405	Transcript				integral to membrane|plasma membrane		ENSG00000164796	g.chr8:113702122C>T	19291			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,8,113702122,C,T&fts=all	W710*	--	--	1				HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																														CSMD3_uc003yns.2_5'UTR|CSMD3_uc003ynt.2_Nonsense_Mutation_p.W670*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.W606*	1,1	1			p.W710*	NM_198123	NP_937756			1,1	CSMD3_HUMAN	CSMD3	HGNC	Q7Z407	CSMD3_HUMAN					14	2289	-			UPI00001E0584	710			Extracellular (Potential).|Sushi 3.		SNV	CSMD3,stop_gained,p.Trp710Ter,ENST00000297405,NM_198123.1;CSMD3,stop_gained,p.Trp670Ter,ENST00000343508,NM_198124.1;CSMD3,stop_gained,p.Trp710Ter,ENST00000352409,;CSMD3,stop_gained,p.Trp606Ter,ENST00000455883,NM_052900.2;CSMD3,stop_gained,p.Trp50Ter,ENST00000339701,;	uc003ynu.2	c.2130G>A	2375/13212	5	1			c.2130G>A						8	SNP	c.(2128-2130)TGG>TGA	8	8			ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63	Broad	CUB and Sushi multiple domains 3 isoform 1			113702122		0.358	ENSG00000164796	3879	g.chr8:113702122C>T		integral to membrane|plasma membrane				2888			2888	99.06428	KEEP	15	19	-1	15	25	15	19	-1	99.173474	15	25	0.458333	1	0	0	0	0	0	1	0	0	--	--	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	0	T			CSMD3_uc003yns.2_5'UTR|CSMD3_uc003ynt.2_Nonsense_Mutation_p.W670*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.W606*	65	GBM-06-0743-TP	p.W710*	C	TGTTTGCAGACCATTGGTTAT	NM_198123	NP_937756	113702122	Q7Z407	CSMD3_HUMAN	0			14	2289	-	T	T			Nonsense_Mutation	710			Extracellular (Potential).|Sushi 3.			
CSMD3	114788	broad.mit.edu	GRCh37	8	113988286	113988286	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-06-2563-01	TCGA-06-2563-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297405.5:c.1122T>A	p.Pro374=	p.P374=	ENST00000297405	NM_198123.1	374	ccT/ccA	0			1			T	P	uc003ynu.2	protein_coding	YES	CCDS6315.1			1122/11124									ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63	c.(1120-1122)CCT>CCA			Low_complexity_(Seg):seg	CUB and Sushi multiple domains 3 isoform 1				ENSP00000297405		Jul-71									COSM2152885,COSM2152886	Jul-71	.		ENST00000297405	Transcript				integral to membrane|plasma membrane		ENSG00000164796	g.chr8:113988286A>T	19291			LOW								--	--	1				HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																														CSMD3_uc003ynt.2_Silent_p.P334P|CSMD3_uc011lhx.1_Intron	1,1	1			p.P374P	NM_198123	NP_937756			1,1	CSMD3_HUMAN	CSMD3	HGNC	Q7Z407	CSMD3_HUMAN					7	1281	-			UPI00001E0584	374			Extracellular (Potential).		SNV	CSMD3,synonymous_variant,p.=,ENST00000297405,NM_198123.1;CSMD3,synonymous_variant,p.=,ENST00000343508,NM_198124.1;CSMD3,synonymous_variant,p.=,ENST00000352409,;CSMD3,intron_variant,,ENST00000455883,NM_052900.2;	uc003ynu.2	c.1122T>A	1367/13212	2	2			c.1122T>A						8	SNP	c.(1120-1122)CCT>CCA	28	28			ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63	Broad	CUB and Sushi multiple domains 3 isoform 1			113988286		0.493	ENSG00000164796	3879	g.chr8:113988286A>T		integral to membrane|plasma membrane				2888			2888	220.440301	KEEP	41	31	-1	35	53	41	31	-1	220.679807	35	53	0.457516	1	0	0	0	0	0	0	1	0	--	--	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	0	T			CSMD3_uc003ynt.2_Silent_p.P334P|CSMD3_uc011lhx.1_Intron	86	GBM-06-2563-TP	p.P374P	A	TAACATCTGCAGGTGTGCTAG	NM_198123	NP_937756	113988286	Q7Z407	CSMD3_HUMAN	0			7	1281	-	T	T			Silent	374			Extracellular (Potential).			
CSMD3	0	broad.mit.edu	GRCh37	8	114290824	114290824	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01	TCGA-15-0742-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297405.5:c.511G>A	p.Glu171Lys	p.E171K	ENST00000297405	NM_198123.1	171	Gaa/Aaa	0		T:0	1	T:0		T	E/K	uc003ynu.2	protein_coding	YES	CCDS6315.1			511/11124									ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63	c.(511-513)GAA>AAA			Gene3D:2.60.120.290,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854	CUB and Sushi multiple domains 3 isoform 1		T:0.001		ENSP00000297405	T:0	Mar-71	2.47E-05			0.000234				6.12E-05	rs536561292,COSM1700542,COSM1700543	Mar-71	.		ENST00000297405	Transcript		T:0.0002		integral to membrane|plasma membrane		ENSG00000164796	g.chr8:114290824C>T	19291			MODERATE		1.3	low	getma.org/?cm=msa&ty=f&p=CSMD3_HUMAN&rb=65&re=173&var=E171K	getma.org/pdb.php?prot=CSMD3_HUMAN&from=65&to=173&var=E171K	getma.org/?cm=var&var=hg19,8,114290824,C,T&fts=all	E171K	--	--	1				HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																														CSMD3_uc003ynt.2_Missense_Mutation_p.E131K|CSMD3_uc011lhx.1_Missense_Mutation_p.E171K|CSMD3_uc010mcx.1_Missense_Mutation_p.E171K	0,1,1	1		benign(0.03)	p.E171K	NM_198123	NP_937756	T:0	tolerated(0.38)	0,1,1	CSMD3_HUMAN	CSMD3	HGNC	Q7Z407	CSMD3_HUMAN					3	670	-			UPI00001E0584	171			Extracellular (Potential).|CUB 1.		SNV	CSMD3,missense_variant,p.Glu171Lys,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Glu131Lys,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Glu171Lys,ENST00000352409,;CSMD3,missense_variant,p.Glu171Lys,ENST00000455883,NM_052900.2;CSMD3,non_coding_transcript_exon_variant,,ENST00000497026,;	uc003ynu.2	c.511G>A	756/13212	2	2			c.511G>A						8	SNP	c.(511-513)GAA>AAA	36	36			ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63	Broad	CUB and Sushi multiple domains 3 isoform 1			114290824		0.378	ENSG00000164796	3879	g.chr8:114290824C>T		integral to membrane|plasma membrane			p.E131K(MEWO-Tumor)	2888		p.E131K(MEWO-Tumor)	2888	92.577065	KEEP	19	15	-1	19	10	19	15	-1	92.641277	19	10	0.537037	1	0	0	0	0	1	0	0	0	--	--	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	0	T			CSMD3_uc003ynt.2_Missense_Mutation_p.E131K|CSMD3_uc011lhx.1_Missense_Mutation_p.E171K|CSMD3_uc010mcx.1_Missense_Mutation_p.E171K	153	GBM-15-0742-TP	p.E171K	C	CACTTACCTTCGTAATATACC	NM_198123	NP_937756	114290824	Q7Z407	CSMD3_HUMAN	0			3	670	-	T	T			Missense_Mutation	171			Extracellular (Potential).|CUB 1.			
CSMD3	0	broad.mit.edu	GRCh37	8	113420591	113420591	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-27-2526-01	TCGA-27-2526-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297405.5:c.5561C>A	p.Ser1854Ter	p.S1854*	ENST00000297405	NM_198123.1	1854	tCa/tAa	0			1			T	S/*	uc003ynu.2	protein_coding	YES	CCDS6315.1			5561/11124									ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63	c.(5560-5562)TCA>TAA			Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44,SMART_domains:SM00042,Superfamily_domains:SSF49854	CUB and Sushi multiple domains 3 isoform 1				ENSP00000297405		34/71									COSM3412690,COSM3412691	34/71	.		ENST00000297405	Transcript				integral to membrane|plasma membrane		ENSG00000164796	g.chr8:113420591G>T	19291			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,8,113420591,G,T&fts=all	S1854*	--	--	1				HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																														CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Nonsense_Mutation_p.S1814*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.S1750*	1,1	1			p.S1854*	NM_198123	NP_937756			1,1	CSMD3_HUMAN	CSMD3	HGNC	Q7Z407	CSMD3_HUMAN					34	5720	-			UPI00001E0584	1854			Extracellular (Potential).|CUB 10.		SNV	CSMD3,stop_gained,p.Ser1854Ter,ENST00000297405,NM_198123.1;CSMD3,stop_gained,p.Ser1814Ter,ENST00000343508,NM_198124.1;CSMD3,stop_gained,p.Ser1750Ter,ENST00000455883,NM_052900.2;CSMD3,intron_variant,,ENST00000352409,;CSMD3,intron_variant,,ENST00000339701,;	uc003ynu.2	c.5561C>A	5806/13212	5	2			c.5561C>A						8	SNP	c.(5560-5562)TCA>TAA	36	36			ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63	Broad	CUB and Sushi multiple domains 3 isoform 1			113420591		0.343	ENSG00000164796	3879	g.chr8:113420591G>T		integral to membrane|plasma membrane				2888			2888	176.854285	KEEP	33	45	0.423076923	79	98	33	45	0.423076923	183.864529	79	98	0.308411	1	0	0	0	0	0	1	0	0	--	--	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	0	T			CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Nonsense_Mutation_p.S1814*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.S1750*	203	GBM-27-2526-TP	p.S1854*	G	TGGTCCAACTGAAGTAAATCG	NM_198123	NP_937756	113420591	Q7Z407	CSMD3_HUMAN	0			34	5720	-	T	T			Nonsense_Mutation	1854			Extracellular (Potential).|CUB 10.			
CSMD3	0	broad.mit.edu	GRCh37	8	113420584	113420584	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-32-2495-01	TCGA-32-2495-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297405.5:c.5568A>G	p.Gly1856=	p.G1856=	ENST00000297405	NM_198123.1	1856	ggA/ggG	0			1			C	G	uc003ynu.2	protein_coding	YES	CCDS6315.1			5568/11124									ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63	c.(5566-5568)GGA>GGG			Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44,SMART_domains:SM00042,Superfamily_domains:SSF49854	CUB and Sushi multiple domains 3 isoform 1				ENSP00000297405		34/71									COSM3412688,COSM3412689	34/71	.		ENST00000297405	Transcript				integral to membrane|plasma membrane		ENSG00000164796	g.chr8:113420584T>C	19291			LOW								--	--	1				HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																														CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Silent_p.G1816G|CSMD3_uc011lhx.1_Silent_p.G1752G	1,1	1			p.G1856G	NM_198123	NP_937756			1,1	CSMD3_HUMAN	CSMD3	HGNC	Q7Z407	CSMD3_HUMAN					34	5727	-			UPI00001E0584	1856			Extracellular (Potential).|CUB 10.		SNV	CSMD3,synonymous_variant,p.=,ENST00000297405,NM_198123.1;CSMD3,synonymous_variant,p.=,ENST00000343508,NM_198124.1;CSMD3,synonymous_variant,p.=,ENST00000455883,NM_052900.2;CSMD3,intron_variant,,ENST00000352409,;CSMD3,intron_variant,,ENST00000339701,;	uc003ynu.2	c.5568A>G	5813/13212	3	3			c.5568A>G						8	SNP	c.(5566-5568)GGA>GGG	7	7			ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63	Broad	CUB and Sushi multiple domains 3 isoform 1			113420584		0.343	ENSG00000164796	3879	g.chr8:113420584T>C		integral to membrane|plasma membrane				2888			2888	-39.234368	KEEP	2	2	-1	92	127	2	2	-1	7.136738	92	127	0.017045	1	0	0	0	0	0	0	1	0	--	--	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	0	C			CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Silent_p.G1816G|CSMD3_uc011lhx.1_Silent_p.G1752G	237	GBM-32-2495-TP	p.G1856G	T	CTGTTATTGGTCCAACTGAAG	NM_198123	NP_937756	113420584	Q7Z407	CSMD3_HUMAN	0			34	5727	-	C	C			Silent	1856			Extracellular (Potential).|CUB 10.			
CSMD3	114788		GRCh37	8	113256734	113256734	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000297405.5:c.10291G>C	p.Gly3431Arg	p.G3431R	ENST00000297405	NM_198123.1	3431	Ggg/Cgg	0																																																																																																																																																																																																																																												
CSMD3	114788		GRCh37	8	114290824	114290824	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000297405.5:c.511G>A	p.Glu171Lys	p.E171K	ENST00000297405	NM_198123.1	171	Gaa/Aaa	0																																																																																																																																																																																																																																												
CSN1S1	1446	broad.mit.edu	GRCh37	4	70810660	70810660	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0650-01	TCGA-06-0650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000246891.4:c.495C>T	p.Ser165=	p.S165=	ENST00000246891	NM_001890.1	165	tcC/tcT	0			1			T	S	uc003hep.1	protein_coding	YES	CCDS47067.1			495/558										0	c.(493-495)TCC>TCT			hmmpanther:PTHR10240,hmmpanther:PTHR10240:SF0	casein alpha s1 isoform 1				ENSP00000246891		15/16									COSM3409445	15/16	.		ENST00000246891	Transcript				extracellular region	protein binding|transporter activity	ENSG00000126545	g.chr4:70810660C>T	2445			LOW								--	--	1																																		CSN1S1_uc003heq.1_Silent_p.S156S|CSN1S1_uc003her.1_Silent_p.S157S	1	1			p.S165S	NM_001890	NP_001881			1	CASA1_HUMAN	CSN1S1	HGNC	P47710	CASA1_HUMAN					15	544	+			UPI0000126FCB	165					SNV	CSN1S1,synonymous_variant,p.=,ENST00000246891,NM_001890.1;CSN1S1,synonymous_variant,p.=,ENST00000444405,NM_001025104.1;CSN1S1,synonymous_variant,p.=,ENST00000507772,;CSN1S1,synonymous_variant,p.=,ENST00000505782,;CSN1S1,synonymous_variant,p.=,ENST00000507763,;CSN1S1,synonymous_variant,p.=,ENST00000510936,;	uc003hep.1	c.495C>T	544/982	1	1			c.495C>T						4	SNP	c.(493-495)TCC>TCT	8	8				0	Broad	casein alpha s1 isoform 1			70810660		0.423	ENSG00000126545	3880	g.chr4:70810660C>T		extracellular region	protein binding|transporter activity							49.66016	KEEP	10	15	-1	54	54	10	15	-1	61.364296	54	54	0.184	1	0	0	0	0	0	0	1	0	--	--		0	T			CSN1S1_uc003heq.1_Silent_p.S156S|CSN1S1_uc003her.1_Silent_p.S157S	63	GBM-06-0650-TP	p.S165S	C	CACCGTTTTCCGACATCTCCA	NM_001890	NP_001881	70810660	P47710	CASA1_HUMAN	0			15	544	+	T	T			Silent	165						
CSN1S1	1446	broad.mit.edu	GRCh37	4	70810645	70810645	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0745-01	TCGA-06-0745-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000246891.4:c.480T>C	p.Pro160=	p.P160=	ENST00000246891	NM_001890.1	160	ccT/ccC	0			1			C	P	uc003hep.1	protein_coding	YES	CCDS47067.1			480/558										0	c.(478-480)CCT>CCC			hmmpanther:PTHR10240,hmmpanther:PTHR10240:SF0	casein alpha s1 isoform 1				ENSP00000246891		15/16									COSM2151742	15/16	.		ENST00000246891	Transcript				extracellular region	protein binding|transporter activity	ENSG00000126545	g.chr4:70810645T>C	2445			LOW								--	--	1																																		CSN1S1_uc003heq.1_Silent_p.P151P|CSN1S1_uc003her.1_Silent_p.P152P	1	1			p.P160P	NM_001890	NP_001881			1	CASA1_HUMAN	CSN1S1	HGNC	P47710	CASA1_HUMAN					15	529	+			UPI0000126FCB	160					SNV	CSN1S1,synonymous_variant,p.=,ENST00000246891,NM_001890.1;CSN1S1,synonymous_variant,p.=,ENST00000444405,NM_001025104.1;CSN1S1,synonymous_variant,p.=,ENST00000507772,;CSN1S1,synonymous_variant,p.=,ENST00000505782,;CSN1S1,synonymous_variant,p.=,ENST00000507763,;CSN1S1,synonymous_variant,p.=,ENST00000510936,;	uc003hep.1	c.480T>C	529/982	4	4			c.480T>C						4	SNP	c.(478-480)CCT>CCC	48	48				0	Broad	casein alpha s1 isoform 1			70810645		0.403	ENSG00000126545	3880	g.chr4:70810645T>C		extracellular region	protein binding|transporter activity							388.018011	KEEP	76	56	-1	88	75	76	56	-1	388.753413	88	75	0.441767	1	0	0	0	0	0	0	1	0	--	--		0	C			CSN1S1_uc003heq.1_Silent_p.P151P|CSN1S1_uc003her.1_Silent_p.P152P	67	GBM-06-0745-TP	p.P160P	T	AGTATGTTCCTTTCCCACCGT	NM_001890	NP_001881	70810645	P47710	CASA1_HUMAN	0			15	529	+	C	C			Silent	160						
CSN2	0	broad.mit.edu	GRCh37	4	70823249	70823249	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-5955-01	TCGA-19-5955-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000353151.3:c.418C>A	p.His140Asn	p.H140N	ENST00000353151	NM_001891.2	140	Cat/Aat	0			1			T	H/N	uc003hes.3	protein_coding	YES	CCDS3532.1			418/681										0	c.(418-420)CAT>AAT			Pfam_domain:PF00363,PIRSF_domain:PIRSF002372,hmmpanther:PTHR11500,hmmpanther:PTHR11500:SF0,Low_complexity_(Seg):seg	casein beta precursor				ENSP00000341030		7-May									COSM1430728	7-May	.		ENST00000353151	Transcript			calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity	ENSG00000135222	g.chr4:70823249G>T	2447			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=CASB_HUMAN&rb=129&re=212&var=H140N	NA	getma.org/?cm=var&var=hg19,4,70823249,G,T&fts=all	H140N	--	--	1																																		CSN2_uc003het.3_Missense_Mutation_p.H139N	1	1		possibly_damaging(0.728)	p.H140N	NM_001891	NP_001882		tolerated(0.09)	1	CASB_HUMAN	CSN2	HGNC	P05814	CASB_HUMAN					5	431	-			UPI0000126FDB	140	H -> Q (in Ref. 3; CAA34916).				SNV	CSN2,missense_variant,p.His140Asn,ENST00000353151,NM_001891.2;	uc003hes.3	c.418C>A	430/1066	1	1			c.418C>A						4	SNP	c.(418-420)CAT>AAT	5	5				0	Broad	casein beta precursor			70823249		0.507	ENSG00000135222	3881	g.chr4:70823249G>T	calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity							22.453393	KEEP	5	9	0.357142857	34	58	5	9	0.357142857	32.6798	34	58	0.149425	1	0	0	0	0	1	0	0	0	--	--		0	T			CSN2_uc003het.3_Missense_Mutation_p.H139N	175	GBM-19-5955-TP	p.H140N	G	AGAGGAAGATGCAGATTTTCA	NM_001891	NP_001882	70823249	P05814	CASB_HUMAN	0			5	431	-	T	T			Missense_Mutation	140	H -> Q (in Ref. 3; CAA34916).					
CSN2	0	broad.mit.edu	GRCh37	4	70822070	70822070	+	stop_lost	Nonstop_Mutation	SNP	A	A	G			TCGA-41-3393-01	TCGA-41-3393-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000353151.3:c.679T>C	p.Ter227GlnextTer14	p.*227Qext*14	ENST00000353151	NM_001891.2	227	Taa/Caa	0			1			G	*/Q	uc003hes.3	protein_coding	YES	CCDS3532.1			679/681										0	c.(679-681)TAA>CAA				casein beta precursor				ENSP00000341030		7-Jun									COSM3409446	7-Jun	.		ENST00000353151	Transcript			calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity	ENSG00000135222	g.chr4:70822070A>G	2447			HIGH								--	--	1																																		CSN2_uc003het.3_Nonstop_Mutation_p.*226Q	1	1			p.*227Q	NM_001891	NP_001882			1	CASB_HUMAN	CSN2	HGNC	P05814	CASB_HUMAN					6	692	-			UPI0000126FDB	227					SNV	CSN2,stop_lost,p.Ter227GlnextTer14,ENST00000353151,NM_001891.2;	uc003hes.3	c.679T>C	691/1066	5	3			c.679T>C						4	SNP	c.(679-681)TAA>CAA	16	16				0	Broad	casein beta precursor			70822070		0.269	ENSG00000135222	3881	g.chr4:70822070A>G	calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity							46.136049	KEEP	6	9	-1	19	15	6	9	-1	47.428034	19	15	0.318182	1	0	0	0	0	0	0	0	0	--	--		0	G			CSN2_uc003het.3_Nonstop_Mutation_p.*226Q	255	GBM-41-3393-TP	p.*227Q	A	AAATCTTCTTAGACCTTAAAA	NM_001891	NP_001882	70822070	P05814	CASB_HUMAN	0			6	692	-	G	G			Nonstop_Mutation	227						
CSN2	1447		GRCh37	4	70823297	70823297	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000353151.3:c.370C>A	p.Pro124Thr	p.P124T	ENST00000353151	NM_001891.2	124	Ccc/Acc	0																																																																																																																																																																																																																																												
CSN3	1448	broad.mit.edu	GRCh37	4	71115169	71115169	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01	TCGA-06-0195-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304954.3:c.542C>T	p.Thr181Met	p.T181M	ENST00000304954	NM_005212.2	181	aCg/aTg	0			1			T	T/M	uc003hfe.3	protein_coding	YES	CCDS3538.1			542/549									ovary(2)|kidney(1)|central_nervous_system(1)	4	c.(541-543)ACG>ATG			Low_complexity_(Seg):seg,hmmpanther:PTHR11470:SF2,hmmpanther:PTHR11470,Pfam_domain:PF00997,PIRSF_domain:PIRSF002374	casein kappa precursor				ENSP00000304822		5-Apr	1.65E-05					1.53E-05		6.21E-05	rs765381118,COSM1057051	5-Apr	.		ENST00000304954	Transcript				extracellular region	protein binding	ENSG00000171209	g.chr4:71115169C>T	2446			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=CASK_HUMAN&rb=21&re=182&var=T181M	NA	getma.org/?cm=var&var=hg19,4,71115169,C,T&fts=all	T181M	--	--	1																																			0,1	1		unknown(0)	p.T181M	NM_005212	NP_005203		tolerated(0.15)	0,1	CASK_HUMAN	CSN3	HGNC	P07498	CASK_HUMAN					4	600	+			UPI000004F262	181	TPPT -> PTTS (in Ref. 5; AA sequence and 6; AA sequence).				SNV	CSN3,missense_variant,p.Thr181Met,ENST00000304954,NM_005212.2;	uc003hfe.3	c.542C>T	628/836	1	1			c.542C>T						4	SNP	c.(541-543)ACG>ATG	1	1			ovary(2)|kidney(1)|central_nervous_system(1)	4	Broad	casein kappa precursor			71115169		0.413	ENSG00000171209	3882	g.chr4:71115169C>T		extracellular region	protein binding							105.912865	KEEP	12	25	-1	24	33	12	25	-1	106.238406	24	33	0.432099	1	0	0	0	0	1	0	0	0	--	--		0	T				45	GBM-06-0195-TP	p.T181M	C	ACTCCACCTACGGCATAAAAA	NM_005212	NP_005203	71115169	P07498	CASK_HUMAN	0			4	600	+	T	T			Missense_Mutation	181	TPPT -> PTTS (in Ref. 5; AA sequence and 6; AA sequence).					
CSNK1D	1453		GRCh37	17	80213441	80213441	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000314028.6:c.200C>T	p.Thr67Ile	p.T67I	ENST00000314028	NM_001893.4	67	aCc/aTc	0																																																																																																																																																																																																																																												
CSNK1G1	0	broad.mit.edu	GRCh37	15	64472574	64472574	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01	TCGA-76-6192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303052.7:c.1187C>T	p.Ala396Val	p.A396V	ENST00000303052	NM_022048.3	396	gCc/gTc	0			1			A	A/V	uc002anf.2	protein_coding	YES	CCDS10192.2			1187/1269										0	c.(1186-1188)GCC>GTC			hmmpanther:PTHR11909,hmmpanther:PTHR11909:SF132	casein kinase 1, gamma 1				ENSP00000305777		12-Nov									COSM3401870	12-Nov	.		ENST00000303052	Transcript			Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	ENSG00000169118	g.chr15:64472574G>A	2454			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=KC1G1_HUMAN&rb=393&re=422&var=A396V	NA	getma.org/?cm=var&var=hg19,15,64472574,G,A&fts=all	A396V	--	--	1																																		CSNK1G1_uc002ane.2_RNA|CSNK1G1_uc002ang.1_Missense_Mutation_p.A396V|CSNK1G1_uc002anh.1_Missense_Mutation_p.A433V	1	1		benign(0.345)	p.A396V	NM_022048	NP_071331		tolerated_low_confidence(0.13)	1	KC1G1_HUMAN	CSNK1G1	HGNC	Q9HCP0	KC1G1_HUMAN			U3KQP7_HUMAN		11	1667	-			UPI000003F575	396					SNV	CSNK1G1,missense_variant,p.Ala396Val,ENST00000303052,NM_022048.3;CSNK1G1,missense_variant,p.Ala433Val,ENST00000607537,;CTD-2116N17.1,missense_variant,p.Ala352Val,ENST00000561349,;CTD-2116N17.1,downstream_gene_variant,,ENST00000606793,;CSNK1G1,3_prime_UTR_variant,,ENST00000606225,;	uc002anf.2	c.1187C>T	1611/8107	2	2			c.1187C>T						15	SNP	c.(1186-1188)GCC>GTC	32	32				0	Broad	casein kinase 1, gamma 1			64472574		0.483	ENSG00000169118	3887	g.chr15:64472574G>A	Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			222			222	-4.42128	KEEP	3	0	-1	29	27	3	0	-1	6.52731	29	27	0.056604	1	0	0	0	0	1	0	0	0	--	--		0	A			CSNK1G1_uc002ane.2_RNA|CSNK1G1_uc002ang.1_Missense_Mutation_p.A396V|CSNK1G1_uc002anh.1_Missense_Mutation_p.A433V	275	GBM-76-6192-TP	p.A396V	G	CTCCACCTCGGCATGAGCTGT	NM_022048	NP_071331	64472574	Q9HCP0	KC1G1_HUMAN	0			11	1667	-	A	A			Missense_Mutation	396						
CSNK1G3	1456		GRCh37	5	122893189	122893189	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000395412.1:c.220G>T	p.Glu74Ter	p.E74*	ENST00000395412		74	Gag/Tag	0																																																																																																																																																																																																																																												
CSNK2B-LY6G5B-1181	0	broad.mit.edu	GRCh37	6	31637206	31637206	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375880.2:c.478G>A	p.Gly160Ser	p.G160S	ENST00000375880		160	Ggc/Agc	0			1			A	G/S	uc003nvr.1	protein_coding	YES				478/687										0	c.(478-480)GGC>AGC			hmmpanther:PTHR11740,Pfam_domain:PF01214,Gene3D:2.20.25.20,SMART_domains:SM01085,Superfamily_domains:0047698,Prints_domain:PR00472	casein kinase 2, beta polypeptide				ENSP00000365040		8-Jun	8.24E-06							6.06E-05	rs778849848,COSM3410940	8-Jun	.		ENST00000375880	Transcript			adiponectin-mediated signaling pathway|axon guidance|cellular protein complex assembly|negative regulation of cell proliferation|regulation of DNA binding|Wnt receptor signaling pathway	cytosol|nucleus|protein kinase CK2 complex	identical protein binding|protein domain specific binding|protein kinase regulator activity|receptor binding|transcription factor binding	ENSG00000263020	g.chr6:31637206G>A				MODERATE		4.135	high	getma.org/?cm=msa&ty=f&p=CSK2B_HUMAN&rb=8&re=191&var=G160S	getma.org/pdb.php?prot=CSK2B_HUMAN&from=8&to=191&var=G160S	getma.org/?cm=var&var=hg19,6,31637206,G,A&fts=all	G160S	--	--	1																																		CSNK2B_uc003nvs.1_Missense_Mutation_p.G160S|LY6G5B_uc003nvt.1_5'Flank	0,1			probably_damaging(1)	p.G160S	NM_001320	NP_001311		deleterious(0)	0,1		CSNK2B-LY6G5B-1181	Uniprot_gn	P67870	CSK2B_HUMAN			Q5SRQ3_HUMAN		6	818	+			UPI00004702F4	160					SNV	CSNK2B-LY6G5B-1181,missense_variant,p.Gly160Ser,ENST00000375880,;CSNK2B,missense_variant,p.Gly179Ser,ENST00000375885,;CSNK2B,missense_variant,p.Gly160Ser,ENST00000375882,NM_001320.5,NM_001282385.1;CSNK2B,missense_variant,p.Gly160Ser,ENST00000375866,;CSNK2B,missense_variant,p.Gly160Ser,ENST00000375865,;CSNK2B-LY6G5B-1181,intron_variant,,ENST00000409691,;GPANK1,upstream_gene_variant,,ENST00000375906,NM_001199237.1;LY6G5B,upstream_gene_variant,,ENST00000375864,NM_021221.2;GPANK1,upstream_gene_variant,,ENST00000375896,NM_033177.3;GPANK1,upstream_gene_variant,,ENST00000375900,NM_001199239.1,NM_001199238.1;GPANK1,upstream_gene_variant,,ENST00000375895,;GPANK1,upstream_gene_variant,,ENST00000375893,NM_001199240.1;LY6G5B,upstream_gene_variant,,ENST00000409525,;GPANK1,upstream_gene_variant,,ENST00000445768,;GPANK1,upstream_gene_variant,,ENST00000458083,;GPANK1,upstream_gene_variant,,ENST00000456540,;LY6G5B,upstream_gene_variant,,ENST00000471088,;CSNK2B,non_coding_transcript_exon_variant,,ENST00000468255,;CSNK2B,non_coding_transcript_exon_variant,,ENST00000481269,;CSNK2B,downstream_gene_variant,,ENST00000475875,;CSNK2B,downstream_gene_variant,,ENST00000465481,;	uc003nvr.1	c.478G>A	596/2487	1	1			c.478G>A						6	SNP	c.(478-480)GGC>AGC	59	59				0	Broad	casein kinase 2, beta polypeptide			31637206		0.562	ENSG00000263020	3892	g.chr6:31637206G>A	adiponectin-mediated signaling pathway|axon guidance|cellular protein complex assembly|negative regulation of cell proliferation|regulation of DNA binding|Wnt receptor signaling pathway	cytosol|nucleus|protein kinase CK2 complex	identical protein binding|protein domain specific binding|protein kinase regulator activity|receptor binding|transcription factor binding							0.126371	KEEP	4	5	-1	51	59	4	5	-1	20.466207	51	59	0.079646	1	0	0	0	0	1	0	0	0	--	--		0	A			CSNK2B_uc003nvs.1_Missense_Mutation_p.G160S|LY6G5B_uc003nvt.1_5'Flank	102	GBM-06-5858-TP	p.G160S	G	CGCCTACTTCGGCACTGGTTT	NM_001320	NP_001311	31637206	P67870	CSK2B_HUMAN	0			6	818	+	A	A			Missense_Mutation	160						
CSNK2B-LY6G5B-1181			GRCh37	6	31637272	31637272	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000375880.2:c.544C>T	p.Gln182Ter	p.Q182*	ENST00000375880		182	Cag/Tag	0																																																																																																																																																																																																																																												
CSPG4	1464	broad.mit.edu	GRCh37	15	75982433	75982433	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0171-01	TCGA-06-0171-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308508.5:c.973G>A	p.Gly325Arg	p.G325R	ENST00000308508	NM_001897.4	325	Ggg/Agg	0			1			T	G/R	uc002baw.2	protein_coding	YES	CCDS10284.1			973/6969									ovary(2)|pancreas(1)	3	c.(973-975)GGG>AGG			Superfamily_domains:SSF49899,SMART_domains:SM00282,Pfam_domain:PF02210,Gene3D:2.60.120.200,hmmpanther:PTHR15036,hmmpanther:PTHR15036:SF11,PROSITE_profiles:PS50025	chondroitin sulfate proteoglycan 4 precursor				ENSP00000312506		10-Mar									COSM2150320	10-Mar	.		ENST00000308508	Transcript			angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	ENSG00000173546	g.chr15:75982433C>T	2466			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=CSPG4_HUMAN&rb=230&re=363&var=G325R	getma.org/pdb.php?prot=CSPG4_HUMAN&from=230&to=363&var=G325R	getma.org/?cm=var&var=hg19,15,75982433,C,T&fts=all	G325R	--	--	1																																			1	1		probably_damaging(1)	p.G325R	NM_001897	NP_001888		deleterious(0)	1	CSPG4_HUMAN	CSPG4	HGNC	Q6UVK1	CSPG4_HUMAN					3	1066	-			UPI00001AEEB6	325			Extracellular (Potential).|Neurite growth inhibition (By similarity).|Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.		SNV	CSPG4,missense_variant,p.Gly325Arg,ENST00000308508,NM_001897.4;	uc002baw.2	c.973G>A	1066/8290	1	1			c.973G>A						15	SNP	c.(973-975)GGG>AGG	10	10			ovary(2)|pancreas(1)	3	Broad	chondroitin sulfate proteoglycan 4 precursor			75982433		0.627	ENSG00000173546	3893	g.chr15:75982433C>T	angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			549			549	35.421182	KEEP	7	5	-1	7	11	7	5	-1	35.555338	7	11	0.423077	1	0	0	0	0	1	0	0	0	--	--		0	T				35	GBM-06-0171-TP	p.G325R	C	TCCAGCCCCCCGAGAAGGAGA	NM_001897	NP_001888	75982433	Q6UVK1	CSPG4_HUMAN	0			3	1066	-	T	T			Missense_Mutation	325			Extracellular (Potential).|Neurite growth inhibition (By similarity).|Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.			
CSPG4	0	broad.mit.edu	GRCh37	15	75974722	75974722	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs143855050	byFrequency;by1000genomes	TCGA-12-3650-01	TCGA-12-3650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308508.5:c.4862G>A	p.Arg1621His	p.R1621H	ENST00000308508	NM_001897.4	1621	cGt/cAt	0	T:0.0011	T:0	1	T:0		T	R/H	uc002baw.2	protein_coding	YES	CCDS10284.1			4862/6969									ovary(2)|pancreas(1)	3	c.(4861-4863)CGT>CAT			hmmpanther:PTHR15036,hmmpanther:PTHR15036:SF11	chondroitin sulfate proteoglycan 4 precursor		T:0	T:0.0037	ENSP00000312506	T:0.004	10-Aug	0.00284	0.000522	0.00114		0.000761	0.00299	0.00234	0.00785	rs143855050,COSM1235607	10-Aug	common_variant		ENST00000308508	Transcript		T:0.0018	angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	ENSG00000173546	g.chr15:75974722C>T	2466			MODERATE		0.755	neutral	getma.org/?cm=msa&ty=f&p=CSPG4_HUMAN&rb=395&re=2320&var=R1621H	NA	getma.org/?cm=var&var=hg19,15,75974722,C,T&fts=all	R1621H	--	--	1																																			0,1	1		benign(0.001)	p.R1621H	NM_001897	NP_001888	T:0.0051	tolerated(0.59)	0,1	CSPG4_HUMAN	CSPG4	HGNC	Q6UVK1	CSPG4_HUMAN					8	4955	-			UPI00001AEEB6	1621			Extracellular (Potential).|Cysteine-containing.|Neurite growth inhibition (By similarity).|CSPG 11.		SNV	CSPG4,missense_variant,p.Arg1621His,ENST00000308508,NM_001897.4;AC105020.1,downstream_gene_variant,,ENST00000435356,;	uc002baw.2	c.4862G>A	4955/8290	2	2			c.4862G>A						15	SNP	c.(4861-4863)CGT>CAT	30	30			ovary(2)|pancreas(1)	3	Broad	chondroitin sulfate proteoglycan 4 precursor			75974722		0.662	ENSG00000173546	3893	g.chr15:75974722C>T	angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			549			549	137.667499	KEEP	24	25	-1	36	23	24	25	-1	137.748997	36	23	0.46875	1	0	0	0	0	1	0	0	0	--	--		0	T				126	GBM-12-3650-TP	p.R1621H	C	CCGCACCACACGGTAGAGCAG	NM_001897	NP_001888	75974722	Q6UVK1	CSPG4_HUMAN	0			8	4955	-	T	T			Missense_Mutation	1621			Extracellular (Potential).|Cysteine-containing.|Neurite growth inhibition (By similarity).|CSPG 11.			
CSPG4	0	broad.mit.edu	GRCh37	15	75980091	75980091	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308508.5:c.3315G>A	p.Leu1105=	p.L1105=	ENST00000308508	NM_001897.4	1105	ctG/ctA	0			1			T	L	uc002baw.2	protein_coding	YES	CCDS10284.1			3315/6969									ovary(2)|pancreas(1)	3	c.(3313-3315)CTG>CTA			hmmpanther:PTHR15036,hmmpanther:PTHR15036:SF11	chondroitin sulfate proteoglycan 4 precursor				ENSP00000312506		10-Mar									COSM3401929	10-Mar	.		ENST00000308508	Transcript			angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	ENSG00000173546	g.chr15:75980091C>T	2466			LOW								--	--	1																																			1	1			p.L1105L	NM_001897	NP_001888			1	CSPG4_HUMAN	CSPG4	HGNC	Q6UVK1	CSPG4_HUMAN					3	3408	-			UPI00001AEEB6	1105			Interaction with COL5A1 (By similarity).|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|CSPG 6.		SNV	CSPG4,synonymous_variant,p.=,ENST00000308508,NM_001897.4;	uc002baw.2	c.3315G>A	3408/8290	2	2			c.3315G>A						15	SNP	c.(3313-3315)CTG>CTA	36	36			ovary(2)|pancreas(1)	3	Broad	chondroitin sulfate proteoglycan 4 precursor			75980091		0.657	ENSG00000173546	3893	g.chr15:75980091C>T	angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			549			549	148.818495	KEEP	26	32	-1	31	28	26	32	-1	148.853555	31	28	0.520408	1	0	0	0	0	0	0	1	0	--	--		0	T				177	GBM-19-5959-TP	p.L1105L	C	CGGACACCTGCAGCTGGATCC	NM_001897	NP_001888	75980091	Q6UVK1	CSPG4_HUMAN	0			3	3408	-	T	T			Silent	1105			Interaction with COL5A1 (By similarity).|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|CSPG 6.			
CSPG4	0	broad.mit.edu	GRCh37	15	75980642	75980642	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308508.5:c.2764C>A	p.Leu922Ile	p.L922I	ENST00000308508	NM_001897.4	922	Ctc/Atc	0			1			T	L/I	uc002baw.2	protein_coding	YES	CCDS10284.1			2764/6969									ovary(2)|pancreas(1)	3	c.(2764-2766)CTC>ATC			hmmpanther:PTHR15036,hmmpanther:PTHR15036:SF11	chondroitin sulfate proteoglycan 4 precursor				ENSP00000312506		10-Mar									COSM3401930	10-Mar	.		ENST00000308508	Transcript			angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	ENSG00000173546	g.chr15:75980642G>T	2466			MODERATE		2.415	medium	getma.org/?cm=msa&ty=f&p=CSPG4_HUMAN&rb=395&re=2320&var=L922I	NA	getma.org/?cm=var&var=hg19,15,75980642,G,T&fts=all	L922I	--	--	1																																			1	1		probably_damaging(0.999)	p.L922I	NM_001897	NP_001888		deleterious(0)	1	CSPG4_HUMAN	CSPG4	HGNC	Q6UVK1	CSPG4_HUMAN					3	2857	-			UPI00001AEEB6	922			Interaction with COL5A1 (By similarity).|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|CSPG 5.|Interaction with COL6A2 (By similarity).		SNV	CSPG4,missense_variant,p.Leu922Ile,ENST00000308508,NM_001897.4;	uc002baw.2	c.2764C>A	2857/8290	2	2			c.2764C>A						15	SNP	c.(2764-2766)CTC>ATC	33	33			ovary(2)|pancreas(1)	3	Broad	chondroitin sulfate proteoglycan 4 precursor			75980642		0.597	ENSG00000173546	3893	g.chr15:75980642G>T	angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			549			549	-40.367408	KEEP	2	2	0.5	96	93	2	2	0.5	6.654572	96	93	0.021739	1	0	0	0	0	1	0	0	0	--	--		0	T				240	GBM-32-2632-TP	p.L922I	G	TTGACAAAGAGGTGGTCAGCA	NM_001897	NP_001888	75980642	Q6UVK1	CSPG4_HUMAN	0			3	2857	-	T	T			Missense_Mutation	922			Interaction with COL5A1 (By similarity).|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|CSPG 5.|Interaction with COL6A2 (By similarity).			
CSPG5	0	broad.mit.edu	GRCh37	3	47619104	47619104	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-14-0817-01	TCGA-14-0817-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000383738.2:c.412A>G	p.Ile138Val	p.I138V	ENST00000383738	NM_001206945.1	138	Atc/Gtc	0			1			C	I/V	uc003crp.3	protein_coding	YES	CCDS56253.1			412/1701									ovary(1)|central_nervous_system(1)	2	c.(412-414)ATC>GTC			Pfam_domain:PF06566,hmmpanther:PTHR15381,hmmpanther:PTHR15381:SF1	chondroitin sulfate proteoglycan 5 (neuroglycan				ENSP00000373244		5-Feb									COSM2154798,COSM3408711	5-Feb	.		ENST00000383738	Transcript			cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	ENSG00000114646	g.chr3:47619104T>C	2467			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CSPG5_HUMAN&rb=31&re=277&var=I138V	NA	getma.org/?cm=var&var=hg19,3,47619104,T,C&fts=all	I138V	--	--	1																																		CSPG5_uc003crn.2_5'UTR|CSPG5_uc003cro.3_Missense_Mutation_p.I138V|CSPG5_uc011bbb.1_5'UTR	1,1	1		benign(0)	p.I138V	NM_006574	NP_006565		tolerated_low_confidence(0.71)	1,1	CSPG5_HUMAN	CSPG5	HGNC	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	B7Z2E0_HUMAN		2	588	-			UPI0000D61AFE	138			Extracellular (Potential).		SNV	CSPG5,missense_variant,p.Ile138Val,ENST00000383738,NM_001206945.1,NM_001206943.1;CSPG5,missense_variant,p.Ile138Val,ENST00000264723,NM_006574.3,NM_001206942.1;CSPG5,5_prime_UTR_variant,,ENST00000456150,;CSPG5,downstream_gene_variant,,ENST00000465441,;	uc003crp.3	c.412A>G	2511/4161	3	3			c.412A>G						3	SNP	c.(412-414)ATC>GTC	13	13			ovary(1)|central_nervous_system(1)	2	Broad	chondroitin sulfate proteoglycan 5 (neuroglycan			47619104		0.692	ENSG00000114646	3894	g.chr3:47619104T>C	cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity							118.796571	KEEP	23	23	-1	47	29	23	23	-1	119.427958	47	29	0.409091	1	0	0	0	0	1	0	0	0	--	--		0	C			CSPG5_uc003crn.2_5'UTR|CSPG5_uc003cro.3_Missense_Mutation_p.I138V|CSPG5_uc011bbb.1_5'UTR	139	GBM-14-0817-TP	p.I138V	T	GGGGGCATGATTGACTGCCCG	NM_006574	NP_006565	47619104	O95196	CSPG5_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	588	-	C	C			Missense_Mutation	138			Extracellular (Potential).			
CSPP1	0	broad.mit.edu	GRCh37	8	68024278	68024278	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01	TCGA-41-4097-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262210.5:c.1192G>A	p.Glu398Lys	p.E398K	ENST00000262210	NM_024790.6	398	Gag/Aag	0			1			A	E/K	uc003xxi.2	protein_coding	YES	CCDS43744.1			1192/3666									ovary(3)|breast(2)	5	c.(1297-1299)GAG>AAG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21616:SF1,hmmpanther:PTHR21616	centrosome spindle pole associated protein 1				ENSP00000262210		29-Sep									COSM3413089	29-Sep	.		ENST00000262210	Transcript	1			centrosome|microtubule|spindle		ENSG00000104218	g.chr8:68024278G>A	26193			MODERATE		1.795	low	getma.org/?cm=msa&ty=f&p=CSPP1_HUMAN&rb=401&re=600&var=E433K	NA	getma.org/?cm=var&var=hg19,8,68024278,G,A&fts=all	E433K	--	--	1																																		CSPP1_uc003xxg.1_Missense_Mutation_p.E425K|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.E398K|CSPP1_uc003xxk.2_Missense_Mutation_p.E104K	1	1		possibly_damaging(0.492)	p.E433K	NM_001077204	NP_001070672		deleterious(0)	1	CSPP1_HUMAN	CSPP1	HGNC	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)				11	1328	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	UPI00005A95D7	433			Potential.		SNV	CSPP1,missense_variant,p.Glu398Lys,ENST00000262210,NM_024790.6;CSPP1,missense_variant,p.Glu104Lys,ENST00000412460,;CSPP1,missense_variant,p.Glu104Lys,ENST00000519668,;CSPP1,missense_variant,p.Glu397Lys,ENST00000519163,;	uc003xxi.2	c.1297G>A	1223/4367	1	1			c.1297G>A						8	SNP	c.(1297-1299)GAG>AAG	61	61			ovary(3)|breast(2)	5	Broad	centrosome spindle pole associated protein 1			68024278		0.353	ENSG00000104218	3895	g.chr8:68024278G>A		centrosome|microtubule|spindle				669			669	-14.559359	KEEP	1	2	-1	50	54	1	2	-1	6.822682	50	54	0.033333	1	0	0	0	0	1	0	0	0	--	--		0	A			CSPP1_uc003xxg.1_Missense_Mutation_p.E425K|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.E398K|CSPP1_uc003xxk.2_Missense_Mutation_p.E104K	257	GBM-41-4097-TP	p.E433K	G	ACAAATGGCTGAGCAACAGAG	NM_001077204	NP_001070672	68024278	Q1MSJ5	CSPP1_HUMAN	0	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		11	1328	+	A	A	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Missense_Mutation	433			Potential.			
CSRNP1	0	broad.mit.edu	GRCh37	3	39188146	39188146	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-4934-01	TCGA-76-4934-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273153.5:c.28G>T	p.Asp10Tyr	p.D10Y	ENST00000273153	NM_033027.3	10	Gac/Tac	0			1			A	D/Y	uc003cjg.2	protein_coding	YES	CCDS2682.1			28/1770									ovary(4)|skin(1)	5	c.(28-30)GAC>TAC			PROSITE_profiles:PS51257,hmmpanther:PTHR13580,hmmpanther:PTHR13580:SF10	AXIN1 up-regulated 1				ENSP00000273153		5-Feb									COSM3408654	5-Feb	.		ENST00000273153	Transcript			apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000144655	g.chr3:39188146C>A	14300			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=CSRN1_HUMAN&rb=7&re=61&var=D10Y	NA	getma.org/?cm=var&var=hg19,3,39188146,C,A&fts=all	D10Y	--	--	1																																		CSRNP1_uc003cjh.2_Missense_Mutation_p.D10Y	1	1		probably_damaging(0.999)	p.D10Y	NM_033027	NP_149016		deleterious(0)	1	CSRN1_HUMAN	CSRNP1	HGNC	Q96S65	CSRN1_HUMAN					2	242	-			UPI0000044242	10					SNV	CSRNP1,missense_variant,p.Asp10Tyr,ENST00000273153,NM_033027.3;CSRNP1,missense_variant,p.Asp10Tyr,ENST00000514182,;	uc003cjg.2	c.28G>T	206/3148	2	2			c.28G>T						3	SNP	c.(28-30)GAC>TAC	44	44			ovary(4)|skin(1)	5	Broad	AXIN1 up-regulated 1			39188146		0.587	ENSG00000144655	3896	g.chr3:39188146C>A	apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity							13.770891	KEEP	2	5	0.714285714	5	5	2	5	0.714285714	13.922955	5	5	0.384615	1	0	0	0	0	1	0	0	0	--	--		0	A			CSRNP1_uc003cjh.2_Missense_Mutation_p.D10Y	272	GBM-76-4934-TP	p.D10Y	C	TCCAGCTGGTCAAATTTCCTC	NM_033027	NP_149016	39188146	Q96S65	CSRN1_HUMAN	0			2	242	-	A	A			Missense_Mutation	10						
CSRNP2	0	broad.mit.edu	GRCh37	12	51457947	51457947	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01	TCGA-15-0742-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000228515.1:c.1214C>T	p.Thr405Met	p.T405M	ENST00000228515	NM_030809.2	405	aCg/aTg	0			1			A	T/M	uc001rxu.1	protein_coding	YES	CCDS8807.1			1214/1632										0	c.(1213-1215)ACG>ATG			hmmpanther:PTHR13580:SF6,hmmpanther:PTHR13580	TGF-beta induced apoptosis protein 12				ENSP00000228515		5-May	3.29E-05		0.000259			1.50E-05			rs745442348,COSM3398795	5-May	.		ENST00000228515	Transcript			apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000110925	g.chr12:51457947G>A	16006			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CSRN2_HUMAN&rb=294&re=493&var=T405M	NA	getma.org/?cm=var&var=hg19,12,51457947,G,A&fts=all	T405M	--	--	1																																			0,1	1		benign(0.208)	p.T405M	NM_030809	NP_110436		tolerated_low_confidence(0.14)	0,1	CSRN2_HUMAN	CSRNP2	HGNC	Q9H175	CSRN2_HUMAN			F8W1G8_HUMAN,F8VZY2_HUMAN,F8VVN1_HUMAN,F8VTU0_HUMAN		5	1512	-			UPI0000073111	405					SNV	CSRNP2,missense_variant,p.Thr405Met,ENST00000228515,NM_030809.2;LETMD1,downstream_gene_variant,,ENST00000418425,NM_001243689.1;LETMD1,downstream_gene_variant,,ENST00000262055,NM_015416.4;LETMD1,downstream_gene_variant,,ENST00000380123,;LETMD1,downstream_gene_variant,,ENST00000552739,;LETMD1,downstream_gene_variant,,ENST00000547008,;LETMD1,downstream_gene_variant,,ENST00000550929,;LETMD1,downstream_gene_variant,,ENST00000553043,;LETMD1,downstream_gene_variant,,ENST00000551931,;CSRNP2,downstream_gene_variant,,ENST00000548206,;LETMD1,downstream_gene_variant,,ENST00000547256,;LETMD1,downstream_gene_variant,,ENST00000547660,;LETMD1,downstream_gene_variant,,ENST00000548516,;LETMD1,downstream_gene_variant,,ENST00000549395,;LETMD1,downstream_gene_variant,,ENST00000547877,;LETMD1,downstream_gene_variant,,ENST00000547318,;LETMD1,downstream_gene_variant,,ENST00000547555,;LETMD1,downstream_gene_variant,,ENST00000552645,;LETMD1,downstream_gene_variant,,ENST00000380135,;LETMD1,downstream_gene_variant,,ENST00000550100,;LETMD1,downstream_gene_variant,,ENST00000546814,;LETMD1,downstream_gene_variant,,ENST00000550274,;LETMD1,downstream_gene_variant,,ENST00000549686,;	uc001rxu.1	c.1214C>T	1512/4469	2	2			c.1214C>T						12	SNP	c.(1213-1215)ACG>ATG	26	26				0	Broad	TGF-beta induced apoptosis protein 12			51457947		0.567	ENSG00000110925	3897	g.chr12:51457947G>A	apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity							277.898383	KEEP	54	47	-1	84	56	54	47	-1	279.000768	84	56	0.423256	1	0	0	0	0	1	0	0	0	--	--		0	A				153	GBM-15-0742-TP	p.T405M	G	GCTGTTCACCGTTGAGGCAGT	NM_030809	NP_110436	51457947	Q9H175	CSRN2_HUMAN	0			5	1512	-	A	A			Missense_Mutation	405						
CSRNP3	0	broad.mit.edu	GRCh37	2	166535947	166535947	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01	TCGA-14-3476-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314499.7:c.1442C>T	p.Ala481Val	p.A481V	ENST00000314499	NM_001172173.1	481	gCc/gTc	0			1			T	A/V	uc002udf.2	protein_coding	YES	CCDS2225.1			1442/1758									ovary(3)|large_intestine(1)|skin(1)	5	c.(1441-1443)GCC>GTC			hmmpanther:PTHR13580:SF13,hmmpanther:PTHR13580	cysteine-serine-rich nuclear protein 3				ENSP00000318258		7-Jul									COSM3406988	7-Jul	.		ENST00000314499	Transcript			apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000178662	g.chr2:166535947C>T	30729			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=CSRN3_HUMAN&rb=291&re=583&var=A481V	NA	getma.org/?cm=var&var=hg19,2,166535947,C,T&fts=all	A481V	--	--	1																																		CSRNP3_uc002udg.2_Missense_Mutation_p.A481V	1	1		benign(0.079)	p.A481V	NM_024969	NP_079245		tolerated_low_confidence(0.07)	1	CSRN3_HUMAN	CSRNP3	HGNC	Q8WYN3	CSRN3_HUMAN			E7EN18_HUMAN,B8ZZD9_HUMAN		7	1818	+			UPI0000136882	481					SNV	CSRNP3,missense_variant,p.Ala481Val,ENST00000314499,NM_001172173.1;CSRNP3,missense_variant,p.Ala481Val,ENST00000342316,NM_024969.3;CSRNP3,missense_variant,p.Ala513Val,ENST00000409420,;CSRNP3,downstream_gene_variant,,ENST00000421875,;CSRNP3,downstream_gene_variant,,ENST00000409664,;	uc002udf.2	c.1442C>T	1818/11788	1	1			c.1442C>T						2	SNP	c.(1441-1443)GCC>GTC	10	10			ovary(3)|large_intestine(1)|skin(1)	5	Broad	cysteine-serine-rich nuclear protein 3			166535947		0.512	ENSG00000178662	3898	g.chr2:166535947C>T	apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity							-17.064437	KEEP	2	1	-1	41	59	2	1	-1	6.326655	41	59	0.030928	1	0	0	0	0	1	0	0	0	--	--		0	T			CSRNP3_uc002udg.2_Missense_Mutation_p.A481V	151	GBM-14-3476-TP	p.A481V	C	GTTGACTATGCCCGACAAGCA	NM_024969	NP_079245	166535947	Q8WYN3	CSRN3_HUMAN	0			7	1818	+	T	T			Missense_Mutation	481						
CSRP2BP			GRCh37	20	18165284	18165284	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000435364.3:c.2023A>C	p.Ser675Arg	p.S675R	ENST00000435364	NM_020536.4	675	Agt/Cgt	0																																																																																																																																																																																																																																												
CST7	8530	broad.mit.edu	GRCh37	20	24930092	24930092	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A			TCGA-06-0750-01	TCGA-06-0750-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000480798.1:c.-50C>A		p.*17*	ENST00000480798	NM_003650.3			0			1			A		uc002wtx.1	protein_coding	YES	CCDS13165.2			-/438									ovary(1)	1	c.(16-18)GCA>GAA				cystatin F				ENSP00000420384		4-Jan									COSM2151934	4-Jan	.		ENST00000480798	Transcript			immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity	ENSG00000077984	g.chr20:24930092C>A	2479			MODIFIER								--	--	1																																			1	1			p.A6E	NM_003650	NP_003641			1	CYTF_HUMAN	CST7	HGNC	O76096	CYTF_HUMAN					1	227	+			UPI0000001CA0	Error:Variant_position_missing_in_O76096_after_alignment					SNV	CST7,missense_variant,p.Ala6Glu,ENST00000376835,;CST7,5_prime_UTR_variant,,ENST00000480798,NM_003650.3;	uc002wtx.1	c.17C>A	227/930	1	1			c.17C>A						20	SNP	c.(16-18)GCA>GAA	58	58			ovary(1)	1	Broad	cystatin F			24930092		0.672	ENSG00000077984	3910	g.chr20:24930092C>A	immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity							86.778677	KEEP	24	27	0.529411765	34	68	24	27	0.529411765	91.854742	34	68	0.283333	1	0	0	0	0	1	0	0	0	--	--		0	A				70	GBM-06-0750-TP	p.A6E	C	CCTGAGAAGGCACTGCACGGC	NM_003650	NP_003641	24930092	O76096	CYTF_HUMAN	0			1	227	+	A	A			Missense_Mutation	Error:Variant_position_missing_in_O76096_after_alignment						
CST9	128822	broad.mit.edu	GRCh37	20	23586397	23586397	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0189-01	TCGA-06-0189-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376971.3:c.105G>A	p.Met35Ile	p.M35I	ENST00000376971	NM_001008693.2	35	atG/atA	0			1			T	M/I	uc002wtl.2	protein_coding	YES	CCDS33450.1			105/480									ovary(1)	1	c.(103-105)ATG>ATA			hmmpanther:PTHR11413,hmmpanther:PTHR11413:SF47	cystatin 9 precursor				ENSP00000366170		2-Jan									COSM3404982	2-Jan	.		ENST00000376971	Transcript				extracellular region	cysteine-type endopeptidase inhibitor activity	ENSG00000173335	g.chr20:23586397C>T	13261			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CST9_HUMAN&rb=1&re=36&var=M35I	NA	getma.org/?cm=var&var=hg19,20,23586397,C,T&fts=all	M35I	--	--	1																																			1	1		benign(0.011)	p.M35I	NM_001008693	NP_001008693		tolerated(0.19)	1	CST9_HUMAN	CST9	HGNC	Q5W186	CST9_HUMAN					1	214	-	Colorectal(13;0.0993)		UPI000013ED7B	35					SNV	CST9,missense_variant,p.Met35Ile,ENST00000376971,NM_001008693.2;	uc002wtl.2	c.105G>A	117/1592	1	1			c.105G>A						20	SNP	c.(103-105)ATG>ATA	3	3			ovary(1)	1	Broad	cystatin 9 precursor			23586397		0.517	ENSG00000173335	3912	g.chr20:23586397C>T		extracellular region	cysteine-type endopeptidase inhibitor activity							-79.078555	KEEP	5	6	-1	189	209	5	6	-1	12.873333	189	209	0.02459	1	0	0	0	0	1	0	0	0	--	--		0	T				42	GBM-06-0189-TP	p.M35I	C	TATTACCACCCATTTCCTCTT	NM_001008693	NP_001008693	23586397	Q5W186	CST9_HUMAN	0			1	214	-	T	T	Colorectal(13;0.0993)		Missense_Mutation	35						
CST9	128822		GRCh37	20	23584188	23584188	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000376971.3:c.439G>A	p.Gly147Arg	p.G147R	ENST00000376971	NM_001008693.2	147	Gga/Aga	0																																																																																																																																																																																																																																												
CSTF1	0	broad.mit.edu	GRCh37	20	54974411	54974411	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5134-01	TCGA-26-5134-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217109.4:c.1034C>T	p.Thr345Met	p.T345M	ENST00000217109	NM_001324.2	345	aCg/aTg	0			1			T	T/M	uc002xxl.1	protein_coding	YES	CCDS13452.1			1034/1296									central_nervous_system(1)	1	c.(1033-1035)ACG>ATG			PROSITE_profiles:PS50294,hmmpanther:PTHR22840,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	cleavage stimulation factor subunit 1				ENSP00000217109		6-May									COSM2157026	6-May	.		ENST00000217109	Transcript			mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	ENSG00000101138	g.chr20:54974411C>T	2483			MODERATE		2.38	medium	getma.org/?cm=msa&ty=f&p=CSTF1_HUMAN&rb=335&re=391&var=T345M	NA	getma.org/?cm=var&var=hg19,20,54974411,C,T&fts=all	T345M	--	--	1																																		CSTF1_uc002xxm.1_Missense_Mutation_p.T345M|CSTF1_uc002xxn.1_Missense_Mutation_p.T345M|CSTF1_uc002xxo.1_Missense_Mutation_p.T288M	1	1		probably_damaging(0.945)	p.T345M	NM_001033521	NP_001028693		deleterious(0)	1	CSTF1_HUMAN	CSTF1	HGNC	Q05048	CSTF1_HUMAN	Colorectal(105;0.202)		A3KFI9_HUMAN		5	1234	+			UPI0000000C1E	345					SNV	CSTF1,missense_variant,p.Thr345Met,ENST00000217109,NM_001324.2,NM_001033521.1;CSTF1,missense_variant,p.Thr345Met,ENST00000415828,;CSTF1,missense_variant,p.Thr345Met,ENST00000452950,NM_001033522.1;CSTF1,downstream_gene_variant,,ENST00000428552,;CSTF1,splice_region_variant,,ENST00000493039,;CSTF1,downstream_gene_variant,,ENST00000490539,;CSTF1,downstream_gene_variant,,ENST00000498689,;	uc002xxl.1	c.1034C>T	1386/2383	2	2			c.1034C>T						20	SNP	c.(1033-1035)ACG>ATG	48	48			central_nervous_system(1)	1	Broad	cleavage stimulation factor subunit 1			54974411		0.244	ENSG00000101138	3916	g.chr20:54974411C>T	mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding							245.230553	KEEP	44	44	-1	55	61	44	44	-1	245.873362	55	61	0.435754	1	0	0	0	0	1	0	0	0	--	--		0	T			CSTF1_uc002xxm.1_Missense_Mutation_p.T345M|CSTF1_uc002xxn.1_Missense_Mutation_p.T345M|CSTF1_uc002xxo.1_Missense_Mutation_p.T288M	183	GBM-26-5134-TP	p.T345M	C	GTCAGATACACGGGTATGTGA	NM_001033521	NP_001028693	54974411	Q05048	CSTF1_HUMAN	0	Colorectal(105;0.202)		5	1234	+	T	T			Missense_Mutation	345						
CSTF1	0	broad.mit.edu	GRCh37	20	54978729	54978729	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-1834-01	TCGA-27-1834-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217109.4:c.1242G>A	p.Thr414=	p.T414=	ENST00000217109	NM_001324.2	414	acG/acA	0			1			A	T	uc002xxl.1	protein_coding	YES	CCDS13452.1			1242/1296									central_nervous_system(1)	1	c.(1240-1242)ACG>ACA			PROSITE_profiles:PS50294,hmmpanther:PTHR22840,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	cleavage stimulation factor subunit 1				ENSP00000217109		6-Jun	3.29E-05		0.000173					0.000121	rs748667806,COSM3405220	6-Jun	.		ENST00000217109	Transcript			mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	ENSG00000101138	g.chr20:54978729G>A	2483			LOW								--	--	1																																		CSTF1_uc002xxm.1_Silent_p.T414T|CSTF1_uc002xxn.1_Silent_p.T414T|CSTF1_uc002xxo.1_Silent_p.T357T	0,1	1			p.T414T	NM_001033521	NP_001028693			0,1	CSTF1_HUMAN	CSTF1	HGNC	Q05048	CSTF1_HUMAN	Colorectal(105;0.202)		A3KFI9_HUMAN		6	1442	+			UPI0000000C1E	414			WD 6.		SNV	CSTF1,synonymous_variant,p.=,ENST00000217109,NM_001324.2,NM_001033521.1;CSTF1,downstream_gene_variant,,ENST00000415828,;CSTF1,downstream_gene_variant,,ENST00000452950,NM_001033522.1;CSTF1,non_coding_transcript_exon_variant,,ENST00000493039,;CSTF1,downstream_gene_variant,,ENST00000490539,;	uc002xxl.1	c.1242G>A	1594/2383	1	1			c.1242G>A						20	SNP	c.(1240-1242)ACG>ACA	50	50			central_nervous_system(1)	1	Broad	cleavage stimulation factor subunit 1			54978729		0.587	ENSG00000101138	3916	g.chr20:54978729G>A	mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding							258.532812	KEEP	42	51	-1	90	60	42	51	-1	260.931678	90	60	0.388128	1	0	0	0	0	0	0	1	0	--	--		0	A			CSTF1_uc002xxm.1_Silent_p.T414T|CSTF1_uc002xxn.1_Silent_p.T414T|CSTF1_uc002xxo.1_Silent_p.T357T	193	GBM-27-1834-TP	p.T414T	G	GGTTCATGACGTGCAGCGATG	NM_001033521	NP_001028693	54978729	Q05048	CSTF1_HUMAN	0	Colorectal(105;0.202)		6	1442	+	A	A			Silent	414			WD 6.			
CSTF2	0	broad.mit.edu	GRCh37	X	100075435	100075435	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-76-4935-01	TCGA-76-4935-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372972.2:c.30G>T	p.Ala10=	p.A10=	ENST00000372972	NM_001325.2	10	gcG/gcT	0			1			T	A	uc004egh.2	protein_coding	YES	CCDS14473.1			30/1734									skin(1)	1	c.(28-30)GCG>GCT			Gene3D:3.30.70.330,hmmpanther:PTHR23139,hmmpanther:PTHR23139:SF57,Superfamily_domains:SSF54928	cleavage stimulation factor subunit 2				ENSP00000362063		14-Jan									COSM3405766	14-Jan	.		ENST00000372972	Transcript			mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|protein binding|RNA binding	ENSG00000101811	g.chrX:100075435G>T	2484			LOW								--	--	1																																		CSTF2_uc010nnd.2_Silent_p.A10A|CSTF2_uc004egi.2_Silent_p.A10A	1	1			p.A10A	NM_001325	NP_001316			1	CSTF2_HUMAN	CSTF2	HGNC	P33240	CSTF2_HUMAN					1	88	+			UPI000003BCAF	10					SNV	CSTF2,synonymous_variant,p.=,ENST00000415585,;CSTF2,synonymous_variant,p.=,ENST00000372972,NM_001325.2;CSTF2,upstream_gene_variant,,ENST00000413437,;SNORA9,downstream_gene_variant,,ENST00000365361,;CSTF2,synonymous_variant,p.=,ENST00000475126,;	uc004egh.2	c.30G>T	46/1958	2	2			c.30G>T						23	SNP	c.(28-30)GCG>GCT	34	34			skin(1)	1	Broad	cleavage stimulation factor subunit 2			100075435		0.562	ENSG00000101811	3917	g.chrX:100075435G>T	mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|protein binding|RNA binding							55.667181	KEEP	10	10	0.5	22	21	10	10	0.5	57.276212	22	21	0.327869	1	0	0	0	0	0	0	1	0	--	--		0	T			CSTF2_uc010nnd.2_Silent_p.A10A|CSTF2_uc004egi.2_Silent_p.A10A	273	GBM-76-4935-TP	p.A10A	G	GAGACCCAGCGGTGGATCGTT	NM_001325	NP_001316	100075435	P33240	CSTF2_HUMAN	0			1	88	+	T	T			Silent	10						
CT45A5	0	broad.mit.edu	GRCh37	X	134947910	134947910	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs146235294	byFrequency	TCGA-27-2524-01	TCGA-27-2524-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000463085.2:c.415C>T	p.Arg139Ter	p.R139*	ENST00000463085		139	Cga/Tga	0	A:0.0003	A:0	1	A:0		A	R/*	uc004eze.2	protein_coding	YES	CCDS35406.1			415/570										0	c.(415-417)CGA>TGA			Pfam_domain:PF15300,hmmpanther:PTHR12957,hmmpanther:PTHR12957:SF8	cancer/testis antigen family 45, member A5		A:0.001	A:0.0006	ENSP00000424778	A:0	5-Mar	0.000501	0.000595	0.00183	0.000152		0.000489		0.000115	rs146235294,COSM3405989	5-Mar	common_variant		ENST00000463085	Transcript		A:0.0003				ENSG00000242284	g.chrX:134947910G>A	33270			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,X,134947910,G,A&fts=all	R139*	--	--	1																																		CT45A5_uc011mvu.1_Nonsense_Mutation_p.R139*	0,1	1			p.R139*	NM_001007551	NP_001007552	A:0		0,1	CT455_HUMAN	CT45A5	HGNC	Q6NSH3	CT455_HUMAN					3	660	-			UPI00002125B4	139					SNV	CT45A5,stop_gained,p.Arg139Ter,ENST00000463085,;CT45A5,stop_gained,p.Arg139Ter,ENST00000370724,NM_001007551.3,NM_001172288.1;CT45A5,stop_gained,p.Arg139Ter,ENST00000491480,;CT45A4,intron_variant,,ENST00000420087,;	uc004eze.2	c.415C>T	505/1219	5	2			c.415C>T						23	SNP	c.(415-417)CGA>TGA	45	45				0	Broad	cancer/testis antigen family 45, member A5			134947910		0.383	ENSG00000242284	3921	g.chrX:134947910G>A										321.301329	KEEP	53	53	-1	13	21	53	53	-1	328.221808	13	21	0.746032	1	0	0	0	0	0	1	0	0	--	--		0	A			CT45A5_uc011mvu.1_Nonsense_Mutation_p.R139*	202	GBM-27-2524-TP	p.R139*	G	TACTTACTTCGTCCAAGGCAT	NM_001007551	NP_001007552	134947910	Q6NSH3	CT455_HUMAN	0			3	660	-	A	A			Nonsense_Mutation	139						
CT55	54967	broad.mit.edu	GRCh37	X	134294392	134294392	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-02-2470-01	TCGA-02-2470-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276241.6:c.368A>G	p.Glu123Gly	p.E123G	ENST00000276241	NM_001031705.2	123	gAa/gGa	0			1			C	E/G	uc004eyk.1	protein_coding	YES	CCDS35400.1			368/795										0	c.(367-369)GAA>GGA			hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF92	hypothetical protein LOC54967 isoform 1				ENSP00000276241		6-Mar									COSM2149077	6-Mar	.		ENST00000276241	Transcript						ENSG00000169551	g.chrX:134294392T>C	26047			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=CX048_HUMAN&rb=86&re=264&var=E123G	NA	getma.org/?cm=var&var=hg19,X,134294392,T,C&fts=all	E123G	--	--	1																																		CXorf48_uc004eyl.1_Missense_Mutation_p.E123G	1	1		benign(0.005)	p.E123G	NM_001031705	NP_001026875		tolerated(0.17)	1	CX048_HUMAN	CT55	HGNC	Q8WUE5	CX048_HUMAN					3	1024	-	Acute lymphoblastic leukemia(192;0.000127)		UPI000006D94A	123					SNV	CT55,missense_variant,p.Glu123Gly,ENST00000344129,NM_017863.2;CT55,missense_variant,p.Glu123Gly,ENST00000276241,NM_001031705.2;	uc004eyk.1	c.368A>G	595/1445	3	3			c.368A>G						23	SNP	c.(367-369)GAA>GGA	50	50				0	Broad	hypothetical protein LOC54967 isoform 1			134294392		0.308	ENSG00000169551	4038	g.chrX:134294392T>C										80.990071	KEEP	8	13	-1	3	4	8	13	-1	82.581335	3	4	0.75	1	0	0	0	0	1	0	0	0	--	--		0	C			CXorf48_uc004eyl.1_Missense_Mutation_p.E123G	5	GBM-02-2470-TP	p.E123G	T	AATATTATCTTCATTTATAGA	NM_001031705	NP_001026875	134294392	Q8WUE5	CX048_HUMAN	0			3	1024	-	C	C	Acute lymphoblastic leukemia(192;0.000127)		Missense_Mutation	123						
CT83	0	broad.mit.edu	GRCh37	X	115592953	115592953	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-26-6174-01	TCGA-26-6174-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371894.4:c.297T>G	p.Leu99=	p.L99=	ENST00000371894	NM_001017978.3	99	ctT/ctG	0			1			C	L	uc004eqj.1	protein_coding	YES	CCDS35372.1			297/342										0	c.(295-297)CTT>CTG			Pfam_domain:PF15204	chromosome X open reading frame 61				ENSP00000360961		2-Feb									COSM3405862	2-Feb	.		ENST00000371894	Transcript				integral to membrane|plasma membrane		ENSG00000204019	g.chrX:115592953A>C	33494			LOW								--	--	1																																			1	1			p.L99L	NM_001017978	NP_001017978			1	KKLC1_HUMAN	CT83	HGNC	Q5H943	KKLC1_HUMAN					2	417	-			UPI0000036205	99			Extracellular (Potential).		SNV	CT83,synonymous_variant,p.=,ENST00000371894,NM_001017978.3;SLC6A14,downstream_gene_variant,,ENST00000371900,NM_007231.3;SLC6A14,downstream_gene_variant,,ENST00000463626,;	uc004eqj.1	c.297T>G	444/548	3	3			c.297T>G						23	SNP	c.(295-297)CTT>CTG	55	55				0	Broad	chromosome X open reading frame 61			115592953		0.418	ENSG00000204019	4043	g.chrX:115592953A>C		integral to membrane|plasma membrane								134.846945	KEEP	21	24	-1	85	62	21	24	-1	145.680775	85	62	0.241573	1	0	0	0	0	0	0	1	0	--	--		0	C				188	GBM-26-6174-TP	p.L99L	A	AACCCTTGCTAAGTAGAGTAT	NM_001017978	NP_001017978	115592953	Q5H943	KKLC1_HUMAN	0			2	417	-	C	C			Silent	99			Extracellular (Potential).			
CTAGE1	64693	broad.mit.edu	GRCh37	18	19995570	19995570	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-02-2470-01	TCGA-02-2470-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000391403.2:c.2205A>T	p.Arg735Ser	p.R735S	ENST00000391403	NM_172241.2	735	agA/agT	0			1			A	R/S	uc002ktv.1	protein_coding	YES	CCDS45837.1			2205/2238									ovary(1)	1	c.(2203-2205)AGA>AGT			Low_complexity_(Seg):seg,hmmpanther:PTHR23158,hmmpanther:PTHR23158:SF41	cutaneous T-cell lymphoma-associated antigen 1				ENSP00000375220		1-Jan									COSM3403460,COSM3403459	1-Jan	.		ENST00000391403	Transcript				integral to membrane		ENSG00000212710	g.chr18:19995570T>A	24346			MODERATE		2.48	medium	getma.org/?cm=msa&ty=f&p=CTGE2_HUMAN&rb=1&re=743&var=R735S	NA	getma.org/?cm=var&var=hg19,18,19995570,T,A&fts=all	R735S	--	--	1																																			1,1	1		benign(0)	p.R735S	NM_172241	NP_758441		deleterious(0)	1,1	CTGE2_HUMAN	CTAGE1	HGNC	Q96RT6	CTGE2_HUMAN			Q8NEG8_HUMAN		1	2309	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		UPI00000721F4	735			Pro-rich.		SNV	CTAGE1,missense_variant,p.Arg735Ser,ENST00000391403,NM_172241.2;CTAGE1,upstream_gene_variant,,ENST00000525417,;RP11-863N1.4,downstream_gene_variant,,ENST00000603437,;	uc002ktv.1	c.2205A>T	2309/4306	2	2			c.2205A>T						18	SNP	c.(2203-2205)AGA>AGT	48	48			ovary(1)	1	Broad	cutaneous T-cell lymphoma-associated antigen 1			19995570		0.483	ENSG00000212710	3924	g.chr18:19995570T>A		integral to membrane								29.277965	KEEP	8	4	-1	25	14	8	4	-1	31.830915	25	14	0.255319	1	0	0	0	0	1	0	0	0	--	--		0	A				5	GBM-02-2470-TP	p.R735S	T	AAAATGCAGGTCTTGGGGGAC	NM_172241	NP_758441	19995570	Q96RT6	CTGE2_HUMAN	0			1	2309	-	A	A	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		Missense_Mutation	735			Pro-rich.			
CTAGE1	64693		GRCh37	18	19997766	19997766	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-2510-01	TCGA-28-2510-01																				ENST00000391403.2:c.9C>T	p.Pro3=	p.P3=	ENST00000391403	NM_172241.2	3	ccC/ccT	0																																																																																																																																																																																																																																												
CTAGE1	64693		GRCh37	18	19996611	19996611	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000391403.2:c.1164C>T	p.Asp388=	p.D388=	ENST00000391403	NM_172241.2	388	gaC/gaT	0																																																																																																																																																																																																																																												
CTBP1	1487	broad.mit.edu	GRCh37	4	1209830	1209830	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-02-0055-01	TCGA-02-0055-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290921.6:c.711C>T	p.Cys237=	p.C237=	ENST00000290921	NM_001328.2	237	tgC/tgT	0	A:0.0002		1			A	C	uc003gcv.1	protein_coding	YES	CCDS3348.1			711/1323									ovary(1)	1	c.(709-711)TGC>TGT			hmmpanther:PTHR10996,hmmpanther:PTHR10996:SF128,Pfam_domain:PF00389,Pfam_domain:PF02826,Gene3D:3.40.50.720,Superfamily_domains:SSF51735	C-terminal binding protein 1 isoform 1			A:0	ENSP00000290921		9-May	4.95E-05			0.000248	0.000191	3.19E-05			rs374344295,COSM3409031	9-May	.		ENST00000290921	Transcript			interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding	ENSG00000159692	g.chr4:1209830G>A	2494			LOW								--	--	1																																		uc003gcs.1_RNA|CTBP1_uc003gct.1_Silent_p.C218C|CTBP1_uc003gcu.1_Silent_p.C226C|CTBP1_uc003gcw.2_5'Flank	0,1	1			p.C237C	NM_001328	NP_001319			0,1	CTBP1_HUMAN	CTBP1	HGNC	Q13363	CTBP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)			5	876	-			UPI0000128637	237			NAD (By similarity).		SNV	CTBP1,synonymous_variant,p.=,ENST00000382952,NM_001012614.1;CTBP1,synonymous_variant,p.=,ENST00000290921,NM_001328.2;CTBP1,synonymous_variant,p.=,ENST00000504092,;CTBP1,upstream_gene_variant,,ENST00000503594,;CTBP1,downstream_gene_variant,,ENST00000506180,;CTBP1,non_coding_transcript_exon_variant,,ENST00000505826,;CTBP1,downstream_gene_variant,,ENST00000514669,;CTBP1,synonymous_variant,p.=,ENST00000510739,;CTBP1,non_coding_transcript_exon_variant,,ENST00000511907,;CTBP1,upstream_gene_variant,,ENST00000514596,;CTBP1,upstream_gene_variant,,ENST00000382950,;	uc003gcv.1	c.711C>T	893/2297	2	2			c.711C>T						4	SNP	c.(709-711)TGC>TGT	39	39			ovary(1)	1	Broad	C-terminal binding protein 1 isoform 1			1209830		0.637	ENSG00000159692	3927	g.chr4:1209830G>A	interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			261			261	-2.007279	KEEP	1	2	-1	30	20	1	2	-1	6.478085	30	20	0.068182	1	0	0	0	0	0	0	1	0	--	--		0	A			uc003gcs.1_RNA|CTBP1_uc003gct.1_Silent_p.C218C|CTBP1_uc003gcu.1_Silent_p.C226C|CTBP1_uc003gcw.2_5'Flank	4	GBM-02-0055-TP	p.C237C	G	CGTTGAGGCCGCAGTGCAGGG	NM_001328	NP_001319	1209830	Q13363	CTBP1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)	5	876	-	A	A			Silent	237			NAD (By similarity).			
CTBP1	1487	broad.mit.edu	GRCh37	4	1206064	1206064	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-06-0878-01	TCGA-06-0878-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290921.6:c.1287C>G	p.Pro429=	p.P429=	ENST00000290921	NM_001328.2	429	ccC/ccG	0			1			C	P	uc003gcv.1	protein_coding	YES	CCDS3348.1			1287/1323									ovary(1)	1	c.(1285-1287)CCC>CCG				C-terminal binding protein 1 isoform 1				ENSP00000290921		9-Sep									COSM3409030	9-Sep	.		ENST00000290921	Transcript			interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding	ENSG00000159692	g.chr4:1206064G>C	2494			LOW								--	--	1																																		uc003gcs.1_RNA|CTBP1_uc003gct.1_Silent_p.P410P|CTBP1_uc003gcu.1_Silent_p.P418P|CTBP1_uc003gcw.2_Silent_p.P104P	1	1			p.P429P	NM_001328	NP_001319			1	CTBP1_HUMAN	CTBP1	HGNC	Q13363	CTBP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)			9	1452	-			UPI0000128637	429					SNV	CTBP1,synonymous_variant,p.=,ENST00000382952,NM_001012614.1;CTBP1,synonymous_variant,p.=,ENST00000290921,NM_001328.2;CTBP1,synonymous_variant,p.=,ENST00000503594,;CTBP1,synonymous_variant,p.=,ENST00000504092,;CTBP1,downstream_gene_variant,,ENST00000506180,;SPON2,upstream_gene_variant,,ENST00000511679,;SPON2,upstream_gene_variant,,ENST00000509233,;SPON2,upstream_gene_variant,,ENST00000400762,;CTBP1,downstream_gene_variant,,ENST00000514669,;CTBP1,downstream_gene_variant,,ENST00000505826,;SPON2,upstream_gene_variant,,ENST00000510542,;SPON2,upstream_gene_variant,,ENST00000504871,;SPON2,upstream_gene_variant,,ENST00000502657,;SPON2,upstream_gene_variant,,ENST00000506266,;CTBP1,non_coding_transcript_exon_variant,,ENST00000514596,;CTBP1,non_coding_transcript_exon_variant,,ENST00000382950,;CTBP1,downstream_gene_variant,,ENST00000511907,;CTBP1,downstream_gene_variant,,ENST00000510739,;	uc003gcv.1	c.1287C>G	1469/2297	4	4			c.1287C>G						4	SNP	c.(1285-1287)CCC>CCG	43	43			ovary(1)	1	Broad	C-terminal binding protein 1 isoform 1			1206064		0.692	ENSG00000159692	3927	g.chr4:1206064G>C	interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			261			261	13.500955	KEEP	4	0	-1	2	3	4	0	-1	13.524752	2	3	0.444444	1	0	0	0	0	0	0	1	0	--	--		0	C			uc003gcs.1_RNA|CTBP1_uc003gct.1_Silent_p.P410P|CTBP1_uc003gcu.1_Silent_p.P418P|CTBP1_uc003gcw.2_Silent_p.P104P	74	GBM-06-0878-TP	p.P429P	G	TATCCGCCTCGGGCTTGACGG	NM_001328	NP_001319	1206064	Q13363	CTBP1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)	9	1452	-	C	C			Silent	429						
CTBP2	0	broad.mit.edu	GRCh37	10	126727604	126727604	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs3208567		TCGA-76-4935-01	TCGA-76-4935-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337195.5:c.20A>G	p.His7Arg	p.H7R	ENST00000337195	NM_001329.2	7	cAc/cGc	0			1			C	H/R	uc009yak.2	protein_coding		CCDS7643.1			20/1338										0	c.(19-21)CAC>CGC			hmmpanther:PTHR10996:SF72,hmmpanther:PTHR10996	C-terminal binding protein 2 isoform 1				ENSP00000338615		11-Mar	2.47E-05	9.63E-05				1.50E-05			rs78849795,COSM1736341	11-Mar	.		ENST00000337195	Transcript			negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	ENSG00000175029	g.chr10:126727604T>C	2495			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=CTBP2_HUMAN&rb=1&re=35&var=H7R	NA	getma.org/?cm=var&var=hg19,10,126727604,T,C&fts=all	H7R	--	--	1																																		CTBP2_uc009yal.2_Missense_Mutation_p.H7R|CTBP2_uc001lif.3_Missense_Mutation_p.H7R|CTBP2_uc001lih.3_Missense_Mutation_p.H7R	0,1	1	22536414	benign(0.001)	p.H7R	NM_001329	NP_001320		tolerated_low_confidence(0.34)	0,1	CTBP2_HUMAN	CTBP2	HGNC	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)			3	307	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	UPI0000128639	7					SNV	CTBP2,missense_variant,p.His7Arg,ENST00000337195,NM_001329.2;CTBP2,missense_variant,p.His7Arg,ENST00000411419,NM_001083914.1;CTBP2,missense_variant,p.His7Arg,ENST00000494626,;CTBP2,missense_variant,p.His7Arg,ENST00000531469,;CTBP2,downstream_gene_variant,,ENST00000530884,;CTBP2,non_coding_transcript_exon_variant,,ENST00000476817,;CTBP2,non_coding_transcript_exon_variant,,ENST00000460976,;	uc009yak.2	c.20A>G	420/3404	3	3			c.20A>G						10	SNP	c.(19-21)CAC>CGC	7	7				0	Broad	C-terminal binding protein 2 isoform 1			126727604		0.453	ENSG00000175029	3928	g.chr10:126727604T>C	negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			463			463	-5.661049	KEEP	2	6	-1	33	45	2	6	-1	9.578152	33	45	0.054795	1	0	0	0	0	1	0	0	0	--	--		0	C			CTBP2_uc009yal.2_Missense_Mutation_p.H7R|CTBP2_uc001lif.3_Missense_Mutation_p.H7R|CTBP2_uc001lih.3_Missense_Mutation_p.H7R	273	GBM-76-4935-TP	p.H7R	T	CTTGACTTTGTGCTTATCCAC	NM_001329	NP_001320	126727604	P56545	CTBP2_HUMAN	0		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	3	307	-	C	C		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	Missense_Mutation	7						
CTC-260F20.3	0	broad.mit.edu	GRCh37	19	19645858	19645858	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1980-01	TCGA-32-1980-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000514277.4:c.334G>A	p.Ala112Thr	p.A112T	ENST00000514277	NM_198537.3	112	Gct/Act	0			1			A	A/T	uc010xqy.1	protein_coding	YES				331/822										0	c.(580-582)GCT>ACT			PROSITE_profiles:PS51385,hmmpanther:PTHR13232,hmmpanther:PTHR13232:SF12,Gene3D:3.40.50.10260	NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)			ENSP00000452549		7-May	8.26E-06							7.96E-05	rs750519791,COSM3403990	7-May	.		ENST00000555938	Transcript			apoptotic nuclear change|induction of apoptosis by extracellular signals|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|negative regulation of translation|protein import into nucleus|reactive oxygen species metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex I|nucleoplasm	ATP binding|NADH dehydrogenase (ubiquinone) activity|protein binding	ENSG00000258674	g.chr19:19645858G>A				MODERATE		-0.18	neutral	getma.org/?cm=msa&ty=f&p=YJEN3_HUMAN&rb=85&re=259&var=A112T	getma.org/pdb.php?prot=YJEN3_HUMAN&from=85&to=259&var=A112T	getma.org/?cm=var&var=hg19,19,19645858,G,A&fts=all	A112T	--	--	1																																		NDUFA13_uc010xqx.1_3'UTR|YJEFN3_uc002nmt.1_Missense_Mutation_p.A112T|YJEFN3_uc010ecf.1_Missense_Mutation_p.A62T|YJEFN3_uc002nmu.1_RNA	0,1			benign(0.252)	p.A194T	NM_015965	NP_057049		tolerated(0.26)	0,1		CTC-260F20.3	Clone_based_vega_gene	Q9P0J0	NDUAD_HUMAN			E7ENQ6_HUMAN		5	839	+			UPI0001AE6402	Error:Variant_position_missing_in_Q9P0J0_after_alignment					SNV	CTC-260F20.3,missense_variant,p.Ala111Thr,ENST00000555938,;YJEFN3,missense_variant,p.Ala111Thr,ENST00000608404,;YJEFN3,missense_variant,p.Ala112Thr,ENST00000514277,NM_198537.3;YJEFN3,missense_variant,p.Ala62Thr,ENST00000436027,NM_001190328.1;CILP2,upstream_gene_variant,,ENST00000586018,;CILP2,upstream_gene_variant,,ENST00000291495,NM_153221.2;NDUFA13,downstream_gene_variant,,ENST00000512771,;CTC-260F20.3,downstream_gene_variant,,ENST00000586674,;YJEFN3,non_coding_transcript_exon_variant,,ENST00000458210,;	uc010xqy.1	c.580G>A	343/1100	2	2			c.580G>A						19	SNP	c.(580-582)GCT>ACT	30	30				0	Broad	NADH dehydrogenase (ubiquinone) 1 alpha		NADH(DB00157)	19645858		0.498	ENSG00000258674	10076	g.chr19:19645858G>A	apoptotic nuclear change|induction of apoptosis by extracellular signals|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|negative regulation of translation|protein import into nucleus|reactive oxygen species metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex I|nucleoplasm	ATP binding|NADH dehydrogenase (ubiquinone) activity|protein binding			42			42	-34.837178	KEEP	2	5	-1	57	165	2	5	-1	10.434452	57	165	0.031746	1	0	0	0	0	1	0	0	0	--	--		0	A			NDUFA13_uc010xqx.1_3'UTR|YJEFN3_uc002nmt.1_Missense_Mutation_p.A112T|YJEFN3_uc010ecf.1_Missense_Mutation_p.A62T|YJEFN3_uc002nmu.1_RNA	231	GBM-32-1980-TP	p.A194T	G	CCCGTTGCCCGCTCTCTCCCG	NM_015965	NP_057049	19645858	Q9P0J0	NDUAD_HUMAN	0			5	839	+	A	A			Missense_Mutation	Error:Variant_position_missing_in_Q9P0J0_after_alignment						
CTC-360G5.8	0	broad.mit.edu	GRCh37	19	39408375	39408375	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000599996.1:c.1357C>T	p.Gly453=	p.G453=	ENST00000599996		453	ggC/ggT	0			1			A	G	uc002oka.2	protein_coding		CCDS33017.1			1149/1557									ovary(1)|pancreas(1)|skin(1)	3	c.(1147-1149)GGC>GGT			PROSITE_profiles:PS50862,hmmpanther:PTHR11778:SF5,hmmpanther:PTHR11778,Pfam_domain:PF00587,Gene3D:3.30.930.10,TIGRFAM_domain:TIGR00414,PIRSF_domain:PIRSF001529,Superfamily_domains:SSF55681	seryl-tRNA synthetase 2 isoform b precursor				ENSP00000221431		16-Dec									COSM2151201,COSM2151202	16-Dec	.		ENST00000221431	Transcript	1		seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity	ENSG00000104835	g.chr19:39408375G>A	17697			LOW								--	--	1																																		SARS2_uc002ojz.2_Silent_p.G193G|SARS2_uc010xup.1_Silent_p.G385G|SARS2_uc002okb.2_Silent_p.G383G|SARS2_uc010xuq.1_Silent_p.G383G|SARS2_uc010xur.1_RNA	1,1				p.G383G	NM_017827	NP_060297			1,1	SYSM_HUMAN	SARS2	HGNC	Q9NP81	SYSM_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		M0R259_HUMAN		12	1309	-	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		UPI000000DA00	383					SNV	SARS2,synonymous_variant,p.=,ENST00000221431,NM_017827.3;SARS2,synonymous_variant,p.=,ENST00000448145,;CTC-360G5.8,synonymous_variant,p.=,ENST00000599996,;SARS2,synonymous_variant,p.=,ENST00000430193,;SARS2,synonymous_variant,p.=,ENST00000594171,;SARS2,synonymous_variant,p.=,ENST00000600042,NM_001145901.1;SARS2,synonymous_variant,p.=,ENST00000598831,;SARS2,3_prime_UTR_variant,,ENST00000455102,;SARS2,non_coding_transcript_exon_variant,,ENST00000597490,;SARS2,downstream_gene_variant,,ENST00000598598,;SARS2,upstream_gene_variant,,ENST00000594259,;SARS2,downstream_gene_variant,,ENST00000593754,;SARS2,downstream_gene_variant,,ENST00000598343,;SARS2,downstream_gene_variant,,ENST00000600448,;SARS2,downstream_gene_variant,,ENST00000598563,;SARS2,downstream_gene_variant,,ENST00000602034,;	uc002oka.2	c.1149C>T	1309/2057	1	1			c.1149C>T						19	SNP	c.(1147-1149)GGC>GGT	53	53			ovary(1)|pancreas(1)|skin(1)	3	Broad	seryl-tRNA synthetase 2 isoform b precursor			39408375		0.627	ENSG00000104835	13625	g.chr19:39408375G>A	seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity							111.283988	KEEP	18	27	-1	42	60	18	27	-1	115.115913	42	60	0.317829	1	0	0	0	0	0	0	1	0	--	--		0	A			SARS2_uc002ojz.2_Silent_p.G193G|SARS2_uc010xup.1_Silent_p.G385G|SARS2_uc002okb.2_Silent_p.G383G|SARS2_uc010xuq.1_Silent_p.G383G|SARS2_uc010xur.1_RNA	58	GBM-06-0644-TP	p.G383G	G	GGAAGTGCAAGCCCAGCTCTG	NM_017827	NP_060297	39408375	Q9NP81	SYSM_HUMAN	0	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		12	1309	-	A	A	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Silent	383						
CTC1	80169		GRCh37	17	8136310	8136310	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000315684.8:c.1859G>A	p.Cys620Tyr	p.C620Y	ENST00000315684	NM_025099.5	620	tGt/tAt	0																																																																																																																																																																																																																																												
CTD-2168K21.2	0	broad.mit.edu	GRCh37	8	24813390	24813390	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221169.5:n.1235G>A		*412*	ENST00000221169				0			1			T		uc003xee.2	antisense	YES													ovary(1)|central_nervous_system(1)	2	c.(640-642)GAC>AAC	745			neurofilament, light polypeptide 68kDa															COSM3412936		.		ENST00000607735	Transcript			anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton	ENSG00000272157	g.chr8:24813390C>T				MODIFIER								--	--	1																																			1				p.D214N	NM_006158	NP_006149			1		CTD-2168K21.2	Clone_based_vega_gene	P07196	NFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)			1	742	-		Ovarian(32;0.00965)|Prostate(55;0.157)		214			Rod.|Coil 1B.		SNV	CTD-2168K21.2,upstream_gene_variant,,ENST00000607735,;NEFL,non_coding_transcript_exon_variant,,ENST00000221169,;	uc003xee.2	c.640G>A	-/490	2	2			c.640G>A						8	SNP	c.(640-642)GAC>AAC	45	45			ovary(1)|central_nervous_system(1)	2	Broad	neurofilament, light polypeptide 68kDa			24813390		0.632	ENSG00000272157	10127	g.chr8:24813390C>T	anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton							81.811926	KEEP	16	13	-1	23	19	16	13	-1	82.218564	23	19	0.415385	1	0	0	0	0	1	0	0	0	--	--		0	T				269	GBM-76-4929-TP	p.D214N	C	ATCAAGCTGTCGATGCGCTTC	NM_006158	NP_006149	24813390	P07196	NFL_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	1	742	-	T	T		Ovarian(32;0.00965)|Prostate(55;0.157)	Missense_Mutation	214			Rod.|Coil 1B.			
CTDNEP1	23399		GRCh37	17	7154554	7154554	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000573600.1:c.62G>A	p.Trp21Ter	p.W21*	ENST00000573600		21	tGg/tAg	0																																																																																																																																																																																																																																												
CTH	0	broad.mit.edu	GRCh37	1	70881655	70881655	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-4931-01	TCGA-76-4931-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370938.3:c.185G>T	p.Arg62Leu	p.R62L	ENST00000370938	NM_001902.5	62	cGt/cTt	0			1			T	R/L	uc001dfd.2	protein_coding	YES	CCDS650.1			185/1218									lung(1)	1	c.(184-186)CGT>CTT			Gene3D:3.40.640.10,Pfam_domain:PF01053,PIRSF_domain:PIRSF001434,hmmpanther:PTHR11808,hmmpanther:PTHR11808:SF15,Superfamily_domains:SSF53383	cystathionase isoform 1	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)			ENSP00000359976		12-Feb									COSM3400990	12-Feb	.		ENST00000370938	Transcript	1		cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding	ENSG00000116761	g.chr1:70881655G>T	2501			MODERATE		3.74	high	getma.org/?cm=msa&ty=f&p=CGL_HUMAN&rb=19&re=395&var=R62L	getma.org/pdb.php?prot=CGL_HUMAN&from=19&to=395&var=R62L	getma.org/?cm=var&var=hg19,1,70881655,G,T&fts=all	R62L	--	--	1																																		CTH_uc009wbl.1_RNA|CTH_uc001dfe.2_Missense_Mutation_p.R62L|CTH_uc010oqq.1_Missense_Mutation_p.R62L	1	1		probably_damaging(1)	p.R62L	NM_001902	NP_001893		deleterious(0)	1	CGL_HUMAN	CTH	HGNC	P32929	CGL_HUMAN					2	329	+			UPI00001275DE	62				Substrate.	SNV	CTH,missense_variant,p.Arg62Leu,ENST00000411986,NM_001190463.1;CTH,missense_variant,p.Arg62Leu,ENST00000370938,NM_001902.5;CTH,missense_variant,p.Arg62Leu,ENST00000346806,NM_153742.4;CTH,non_coding_transcript_exon_variant,,ENST00000464926,;	uc001dfd.2	c.185G>T	329/1805	1	1			c.185G>T						1	SNP	c.(184-186)CGT>CTT	3	3			lung(1)	1	Broad	cystathionase isoform 1		L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	70881655		0.378	ENSG00000116761	3938	g.chr1:70881655G>T	cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding							-18.16395	KEEP	1	2	0.333333333	61	53	1	2	0.333333333	6.656338	61	53	0.029412	1	0	0	0	0	1	0	0	0	--	--		0	T			CTH_uc009wbl.1_RNA|CTH_uc001dfe.2_Missense_Mutation_p.R62L|CTH_uc010oqq.1_Missense_Mutation_p.R62L	270	GBM-76-4931-TP	p.R62L	G	GAATATAGCCGTTCTGGAAAT	NM_001902	NP_001893	70881655	P32929	CGL_HUMAN	0			2	329	+	T	T			Missense_Mutation	62				Substrate.		
CTHRC1	115908	broad.mit.edu	GRCh37	8	104390318	104390318	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01	TCGA-06-2559-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330295.5:c.436C>T	p.Arg146Trp	p.R146W	ENST00000330295	NM_138455.3	146	Cgg/Tgg	0			1			T	R/W	uc003ylk.2	protein_coding	YES	CCDS6299.1			436/732									ovary(1)	1	c.(436-438)CGG>TGG			hmmpanther:PTHR24637,hmmpanther:PTHR24637:SF208	collagen triple helix repeat containing 1				ENSP00000330523		4-Mar	1.65E-05					3.00E-05			rs747888820,COSM3412620,COSM3412621	4-Mar	.		ENST00000330295	Transcript	1			collagen		ENSG00000164932	g.chr8:104390318C>T	18831			MODERATE		2.52	medium	getma.org/?cm=msa&ty=f&p=CTHR1_HUMAN&rb=95&re=243&var=R146W	NA	getma.org/?cm=var&var=hg19,8,104390318,C,T&fts=all	R146W	--	--	1																																			0,1,1	1		probably_damaging(0.991)	p.R146W	NM_138455	NP_612464		deleterious(0)	0,1,1	CTHR1_HUMAN	CTHRC1	HGNC	Q96CG8	CTHR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		E5RK99_HUMAN		3	535	+			UPI0000073CB3	146					SNV	CTHRC1,missense_variant,p.Arg146Trp,ENST00000330295,NM_138455.3;CTHRC1,missense_variant,p.Arg132Trp,ENST00000520337,NM_001256099.1;CTHRC1,missense_variant,p.Arg16Trp,ENST00000520880,;CTHRC1,downstream_gene_variant,,ENST00000415886,;RP11-1C8.6,downstream_gene_variant,,ENST00000577199,;	uc003ylk.2	c.436C>T	578/1271	2	2			c.436C>T						8	SNP	c.(436-438)CGG>TGG	32	32			ovary(1)	1	Broad	collagen triple helix repeat containing 1			104390318		0.373	ENSG00000164932	3939	g.chr8:104390318C>T		collagen								-26.509419	KEEP	10	7	-1	176	147	10	7	-1	32.370203	176	147	0.053571	1	0	0	0	0	1	0	0	0	--	--		0	T				83	GBM-06-2559-TP	p.R146W	C	TGGCTCACTTCGGCTAAAATG	NM_138455	NP_612464	104390318	Q96CG8	CTHR1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		3	535	+	T	T			Missense_Mutation	146						
CTHRC1	115908		GRCh37	8	104388028	104388028	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000330295.5:c.213C>T	p.Ala71=	p.A71=	ENST00000330295	NM_138455.3	71	gcC/gcT	0																																																																																																																																																																																																																																												
CTIF	9811	broad.mit.edu	GRCh37	18	46385757	46385757	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0168-01	TCGA-06-0168-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382998.4:c.1630A>G	p.Met544Val	p.M544V	ENST00000382998	NM_001142397.1	544	Atg/Gtg	0			1			G	M/V	uc002ldc.2	protein_coding		CCDS11935.1			1624/1797										0	c.(1624-1626)ATG>GTG			hmmpanther:PTHR23254:SF14,hmmpanther:PTHR23254,Pfam_domain:PF02854,Gene3D:1.25.40.180,SMART_domains:SM00543,Superfamily_domains:SSF48371	hypothetical protein LOC9811 isoform 1				ENSP00000256413		12-Dec									COSM2150228,COSM2150229	12-Dec	.		ENST00000256413	Transcript			nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	ENSG00000134030	g.chr18:46385757A>G	23925			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=CTIF_HUMAN&rb=372&re=577&var=M542V	getma.org/pdb.php?prot=CTIF_HUMAN&from=372&to=577&var=M542V	getma.org/?cm=var&var=hg19,18,46385757,A,G&fts=all	M542V	--	--	1																																		KIAA0427_uc002ldd.2_Missense_Mutation_p.M544V|KIAA0427_uc002lde.3_Missense_Mutation_p.M171V	1,1			benign(0.314)	p.M542V	NM_014772	NP_055587		tolerated(0.05)	1,1	CTIF_HUMAN	CTIF	HGNC	O43310	CTIF_HUMAN			K7EQS5_HUMAN,K7EPK6_HUMAN,K7EK08_HUMAN		12	1909	+			UPI00001397BF	542			MIF4G.		SNV	CTIF,missense_variant,p.Met542Val,ENST00000256413,NM_014772.2;CTIF,missense_variant,p.Met544Val,ENST00000382998,NM_001142397.1;CTIF,upstream_gene_variant,,ENST00000592658,;CTIF,upstream_gene_variant,,ENST00000590422,;CTIF,non_coding_transcript_exon_variant,,ENST00000587860,;	uc002ldc.2	c.1624A>G	1919/5750	3	3			c.1624A>G						18	SNP	c.(1624-1626)ATG>GTG	64	64				0	Broad	hypothetical protein LOC9811 isoform 1			46385757		0.637	ENSG00000134030	8037	g.chr18:46385757A>G	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding							102.067197	KEEP	21	19	-1	53	64	21	19	-1	110.190089	53	64	0.248227	1	0	0	0	0	1	0	0	0	--	--		0	G			KIAA0427_uc002ldd.2_Missense_Mutation_p.M544V|KIAA0427_uc002lde.3_Missense_Mutation_p.M171V	33	GBM-06-0168-TP	p.M542V	A	GCTGCCTGAGATGATGACAGA	NM_014772	NP_055587	46385757	O43310	CTIF_HUMAN	0			12	1909	+	G	G			Missense_Mutation	542			MIF4G.			
CTIF	0	broad.mit.edu	GRCh37	18	46284644	46284644	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-76-4935-01	TCGA-76-4935-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256413.3:c.939A>C	p.Pro313=	p.P313=	ENST00000256413	NM_014772.2	313	ccA/ccC	0			1			C	P	uc002ldc.2	protein_coding		CCDS11935.1			939/1797										0	c.(937-939)CCA>CCC			hmmpanther:PTHR23254:SF14,hmmpanther:PTHR23254	hypothetical protein LOC9811 isoform 1				ENSP00000256413		12-Aug	0.000593	0.00062	8.71E-05	0.000235	0.00229	0.000664	0.00114		rs755060893,COSM473875,COSM473876	12-Aug	common_variant		ENST00000256413	Transcript			nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	ENSG00000134030	g.chr18:46284644A>C	23925			LOW								--	--	1																																		KIAA0427_uc002ldd.2_Silent_p.P313P|KIAA0427_uc002lde.3_5'Flank	0,1,1				p.P313P	NM_014772	NP_055587			0,1,1	CTIF_HUMAN	CTIF	HGNC	O43310	CTIF_HUMAN			K7EQS5_HUMAN,K7EPK6_HUMAN,K7EK08_HUMAN		8	1224	+			UPI00001397BF	313					SNV	CTIF,synonymous_variant,p.=,ENST00000256413,NM_014772.2;CTIF,synonymous_variant,p.=,ENST00000382998,NM_001142397.1;CTIF,downstream_gene_variant,,ENST00000587752,;CTIF,downstream_gene_variant,,ENST00000587769,;CTIF,upstream_gene_variant,,ENST00000587860,;	uc002ldc.2	c.939A>C	1234/5750	3	3			c.939A>C						18	SNP	c.(937-939)CCA>CCC	64	64				0	Broad	hypothetical protein LOC9811 isoform 1			46284644		0.632	ENSG00000134030	8037	g.chr18:46284644A>C	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding							-10.946742	KEEP	13	27	-1	61	82	13	27	-1	6.707763	61	82	0.097087	1	0	0	0	0	0	0	1	0	--	--		0	C			KIAA0427_uc002ldd.2_Silent_p.P313P|KIAA0427_uc002lde.3_5'Flank	273	GBM-76-4935-TP	p.P313P	A	GGCTGCCCCCACAGCAGTCAG	NM_014772	NP_055587	46284644	O43310	CTIF_HUMAN	0			8	1224	+	C	C			Silent	313						
CTNNA1	0	broad.mit.edu	GRCh37	5	138221907	138221907	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01	TCGA-14-0740-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302763.7:c.1069C>T	p.Arg357Cys	p.R357C	ENST00000302763	NM_001903.2	357	Cgt/Tgt	0			1			T	R/C	uc003ldh.2	protein_coding	YES	CCDS34243.1			1069/2721									breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11	c.(1069-1071)CGT>TGT			hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF24,Pfam_domain:PF01044	catenin, alpha 1				ENSP00000304669		18-Aug	1.65E-05			0.000116		1.50E-05			rs758561244,COSM3409765	18-Aug	.		ENST00000302763	Transcript			adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	ENSG00000044115	g.chr5:138221907C>T	2509			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=CTNA1_HUMAN&rb=332&re=867&var=R357C	getma.org/pdb.php?prot=CTNA1_HUMAN&from=332&to=867&var=R357C	getma.org/?cm=var&var=hg19,5,138221907,C,T&fts=all	R357C	--	--	1																																		CTNNA1_uc011cyx.1_Missense_Mutation_p.R254C|CTNNA1_uc011cyy.1_Missense_Mutation_p.R234C|CTNNA1_uc003ldi.2_Missense_Mutation_p.R55C|CTNNA1_uc003ldj.2_Missense_Mutation_p.R357C|CTNNA1_uc003ldl.2_Translation_Start_Site	0,1	1		benign(0.033)	p.R357C	NM_001903	NP_001894		deleterious(0.04)	0,1	CTNA1_HUMAN	CTNNA1	HGNC	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		F8W845_HUMAN,E5RJP7_HUMAN,E5RJL0_HUMAN,E5RJC9_HUMAN,E5RJ43_HUMAN,E5RJ41_HUMAN,E5RIE0_HUMAN,E5RIB1_HUMAN,E5RHY5_HUMAN,E5RHV7_HUMAN,E5RHR7_HUMAN,E5RHJ5_HUMAN,E5RGY6_HUMAN,E5RGU3_HUMAN,E5RGS1_HUMAN,E5RGG4_HUMAN,E5RGD2_HUMAN,E5RG03_HUMAN,E5RFM5_HUMAN,E5RFM3_HUMAN,E5RFK9_HUMAN,E5RFG3_HUMAN,B4E2G8_HUMAN,B4DKT9_HUMAN		8	1164	+			UPI000012862C	357			Interaction with alpha-actinin.		SNV	CTNNA1,missense_variant,p.Arg357Cys,ENST00000302763,NM_001903.2;CTNNA1,missense_variant,p.Arg357Cys,ENST00000518825,;CTNNA1,missense_variant,p.Arg254Cys,ENST00000355078,;CTNNA1,5_prime_UTR_variant,,ENST00000540387,;CTNNA1,5_prime_UTR_variant,,ENST00000522013,;CTNNA1,5_prime_UTR_variant,,ENST00000520260,;CTNNA1,5_prime_UTR_variant,,ENST00000523685,;CTNNA1,5_prime_UTR_variant,,ENST00000519634,;CTNNA1,5_prime_UTR_variant,,ENST00000517533,;CTNNA1,5_prime_UTR_variant,,ENST00000523298,;CTNNA1,5_prime_UTR_variant,,ENST00000521640,;CTNNA1,5_prime_UTR_variant,,ENST00000521683,;CTNNA1,5_prime_UTR_variant,,ENST00000519116,;CTNNA1,5_prime_UTR_variant,,ENST00000519768,;CTNNA1,5_prime_UTR_variant,,ENST00000520865,;CTNNA1,5_prime_UTR_variant,,ENST00000517656,;CTNNA1,5_prime_UTR_variant,,ENST00000518381,;CTNNA1,5_prime_UTR_variant,,ENST00000520522,;CTNNA1,non_coding_transcript_exon_variant,,ENST00000520400,;CTNNA1,non_coding_transcript_exon_variant,,ENST00000522052,;CTNNA1,3_prime_UTR_variant,,ENST00000521724,;CTNNA1,3_prime_UTR_variant,,ENST00000523275,;CTNNA1,non_coding_transcript_exon_variant,,ENST00000517534,;CTNNA1,upstream_gene_variant,,ENST00000517904,;	uc003ldh.2	c.1069C>T	1159/3756	2	2			c.1069C>T						5	SNP	c.(1069-1071)CGT>TGT	44	44			breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11	Broad	catenin, alpha 1			138221907		0.378	ENSG00000044115	3941	g.chr5:138221907C>T	adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding							12.154207	KEEP	2	7	-1	19	20	2	7	-1	16.805247	19	20	0.173913	1	0	0	0	0	1	0	0	0	--	--		0	T			CTNNA1_uc011cyx.1_Missense_Mutation_p.R254C|CTNNA1_uc011cyy.1_Missense_Mutation_p.R234C|CTNNA1_uc003ldi.2_Missense_Mutation_p.R55C|CTNNA1_uc003ldj.2_Missense_Mutation_p.R357C|CTNNA1_uc003ldl.2_Translation_Start_Site	132	GBM-14-0740-TP	p.R357C	C	CCAGGCTGGACGTAAAGAAAG	NM_001903	NP_001894	138221907	P35221	CTNA1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		8	1164	+	T	T			Missense_Mutation	357			Interaction with alpha-actinin.			
CTNNA2	1496	broad.mit.edu	GRCh37	2	79971613	79971613	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0210-01	TCGA-06-0210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000466387.1:c.203C>G	p.Thr68Ser	p.T68S	ENST00000466387		68	aCt/aGt	0			1			G	T/S	uc010ysh.1	protein_coding		CCDS62944.1			203/2862									pancreas(4)|lung(3)|breast(1)|skin(1)	9	c.(202-204)ACT>AGT			Superfamily_domains:SSF47220,Gene3D:1.20.120.230,Pfam_domain:PF01044,hmmpanther:PTHR18914:SF23,hmmpanther:PTHR18914	catenin, alpha 2 isoform 1				ENSP00000384638		18-Feb									COSM2150723,COSM3407998,COSM2150722	18-Feb	.		ENST00000402739	Transcript			axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	ENSG00000066032	g.chr2:79971613C>G	2510			MODERATE		2.765	medium	getma.org/?cm=msa&ty=f&p=CTNA2_HUMAN&rb=18&re=337&var=T68S	getma.org/pdb.php?prot=CTNA2_HUMAN&from=18&to=337&var=T68S	getma.org/?cm=var&var=hg19,2,79971613,C,G&fts=all	T68S	--	--	1																																		CTNNA2_uc010yse.1_Missense_Mutation_p.T68S|CTNNA2_uc010ysf.1_Missense_Mutation_p.T68S|CTNNA2_uc010ysg.1_Missense_Mutation_p.T68S	1,1,1			probably_damaging(0.963)	p.T68S	NM_004389	NP_004380		deleterious(0.01)	1,1,1	CTNA2_HUMAN	CTNNA2	HGNC	P26232	CTNA2_HUMAN			C9J144_HUMAN,C9IZ88_HUMAN		2	208	+			UPI0000D9D4EC	68					SNV	CTNNA2,missense_variant,p.Thr68Ser,ENST00000466387,;CTNNA2,missense_variant,p.Thr68Ser,ENST00000496558,NM_001164883.1,NM_004389.3,NM_001282598.1;CTNNA2,missense_variant,p.Thr68Ser,ENST00000402739,NM_001282597.1;CTNNA2,missense_variant,p.Thr68Ser,ENST00000541047,;CTNNA2,missense_variant,p.Thr102Ser,ENST00000361291,;CTNNA2,missense_variant,p.Thr68Ser,ENST00000540488,;CTNNA2,missense_variant,p.Thr68Ser,ENST00000409971,;CTNNA2,downstream_gene_variant,,ENST00000451966,;CTNNA2,non_coding_transcript_exon_variant,,ENST00000508970,;	uc010ysh.1	c.203C>G	208/3684	3	3			c.203C>G						2	SNP	c.(202-204)ACT>AGT	15	15			pancreas(4)|lung(3)|breast(1)|skin(1)	9	Broad	catenin, alpha 2 isoform 1			79971613		0.473	ENSG00000066032	3942	g.chr2:79971613C>G	axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			489			489	46.102797	KEEP	6	12	-1	36	33	6	12	-1	48.34382	36	33	0.283019	1	0	0	0	0	1	0	0	0	--	--		0	G			CTNNA2_uc010yse.1_Missense_Mutation_p.T68S|CTNNA2_uc010ysf.1_Missense_Mutation_p.T68S|CTNNA2_uc010ysg.1_Missense_Mutation_p.T68S	47	GBM-06-0210-TP	p.T68S	C	GAGCAAGCCACTCAGAATTTC	NM_004389	NP_004380	79971613	P26232	CTNA2_HUMAN	0			2	208	+	G	G			Missense_Mutation	68						
CTNNA2	0	broad.mit.edu	GRCh37	2	80874750	80874750	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-2631-01	TCGA-19-2631-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000402739.4:c.2615T>C	p.Leu872Pro	p.L872P	ENST00000402739	NM_001282597.1	872	cTg/cCg	0			1			C	L/P	uc010ysh.1	protein_coding		CCDS62944.1			2615/2862									pancreas(4)|lung(3)|breast(1)|skin(1)	9	c.(2614-2616)CTG>CCG			Superfamily_domains:SSF47220,Pfam_domain:PF01044,Gene3D:1.20.120.230,hmmpanther:PTHR18914:SF23,hmmpanther:PTHR18914	catenin, alpha 2 isoform 1				ENSP00000384638		18/18									COSM3408005,COSM3408006,COSM3408004	18/18	.		ENST00000402739	Transcript			axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	ENSG00000066032	g.chr2:80874750T>C	2510			MODERATE		3.32	medium	getma.org/?cm=msa&ty=f&p=CTNA2_HUMAN&rb=330&re=914&var=L872P	NA	getma.org/?cm=var&var=hg19,2,80874750,T,C&fts=all	L872P	--	--	1																																		CTNNA2_uc010yse.1_Missense_Mutation_p.L824P|CTNNA2_uc010ysf.1_Missense_Mutation_p.L824P|CTNNA2_uc010ysg.1_Missense_Mutation_p.L779P|CTNNA2_uc010ysi.1_Missense_Mutation_p.L456P|CTNNA2_uc010ysj.1_Missense_Mutation_p.L153P	1,1,1			probably_damaging(0.998)	p.L872P	NM_004389	NP_004380		deleterious(0)	1,1,1	CTNA2_HUMAN	CTNNA2	HGNC	P26232	CTNA2_HUMAN			C9J144_HUMAN,C9IZ88_HUMAN		18	2620	+			UPI0000D9D4EC	872					SNV	CTNNA2,missense_variant,p.Leu824Pro,ENST00000466387,;CTNNA2,missense_variant,p.Leu824Pro,ENST00000496558,NM_001164883.1,NM_004389.3,NM_001282598.1;CTNNA2,missense_variant,p.Leu872Pro,ENST00000402739,NM_001282597.1;CTNNA2,missense_variant,p.Leu824Pro,ENST00000541047,;CTNNA2,missense_variant,p.Leu503Pro,ENST00000343114,NM_001282600.1,NM_001282599.1;CTNNA2,missense_variant,p.Leu858Pro,ENST00000361291,;CTNNA2,missense_variant,p.Leu779Pro,ENST00000540488,;	uc010ysh.1	c.2615T>C	2620/3684	3	3			c.2615T>C						2	SNP	c.(2614-2616)CTG>CCG	61	61			pancreas(4)|lung(3)|breast(1)|skin(1)	9	Broad	catenin, alpha 2 isoform 1			80874750		0.468	ENSG00000066032	3942	g.chr2:80874750T>C	axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			489			489	-51.555781	KEEP	5	2	-1	112	145	5	2	-1	9.144591	112	145	0.021186	1	0	0	0	0	1	0	0	0	--	--		0	C			CTNNA2_uc010yse.1_Missense_Mutation_p.L824P|CTNNA2_uc010ysf.1_Missense_Mutation_p.L824P|CTNNA2_uc010ysg.1_Missense_Mutation_p.L779P|CTNNA2_uc010ysi.1_Missense_Mutation_p.L456P|CTNNA2_uc010ysj.1_Missense_Mutation_p.L153P	167	GBM-19-2631-TP	p.L872P	T	GCTAAAAACCTGATGAATGCT	NM_004389	NP_004380	80874750	P26232	CTNA2_HUMAN	0			18	2620	+	C	C			Missense_Mutation	872						
CTNNA3	29119	broad.mit.edu	GRCh37	10	69407205	69407205	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01	TCGA-06-5413-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000433211.2:c.67G>A	p.Val23Met	p.V23M	ENST00000433211	NM_013266.2	23	Gtg/Atg	0			1			T	V/M	uc009xpn.1	protein_coding	YES	CCDS7269.1			67/2688									skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8	c.(67-69)GTG>ATG			hmmpanther:PTHR18914:SF21,hmmpanther:PTHR18914,Pfam_domain:PF01044,Prints_domain:PR00805	catenin, alpha 3				ENSP00000389714		18-Feb	1.65E-05					3.00E-05			rs776250185,COSM1348649,COSM1348650,COSM3397210	18-Feb	.		ENST00000433211	Transcript	1		cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	ENSG00000183230	g.chr10:69407205C>T	2511			MODERATE		1.89	low	getma.org/?cm=msa&ty=f&p=CTNA3_HUMAN&rb=17&re=335&var=V23M	getma.org/pdb.php?prot=CTNA3_HUMAN&from=17&to=335&var=V23M	getma.org/?cm=var&var=hg19,10,69407205,C,T&fts=all	V23M	--	--	1																																		CTNNA3_uc001jmw.2_Missense_Mutation_p.V23M|CTNNA3_uc001jmx.3_Missense_Mutation_p.V23M|CTNNA3_uc009xpo.1_Translation_Start_Site|CTNNA3_uc001jna.2_Missense_Mutation_p.V35M	0,1,1,1	1		possibly_damaging(0.867)	p.V23M	NM_001127384	NP_001120856		deleterious(0)	0,1,1,1	CTNA3_HUMAN	CTNNA3	HGNC	Q9UI47	CTNA3_HUMAN			Q5SW23_HUMAN,A6NKP0_HUMAN		2	190	-			UPI000004A0E6	23					SNV	CTNNA3,missense_variant,p.Val23Met,ENST00000433211,NM_013266.2;CTNNA3,missense_variant,p.Val23Met,ENST00000373744,NM_001127384.1;CTNNA3,missense_variant,p.Val23Met,ENST00000545309,;CTNNA3,missense_variant,p.Val23Met,ENST00000330298,;	uc009xpn.1	c.67G>A	242/10675	1	1			c.67G>A						10	SNP	c.(67-69)GTG>ATG	11	11			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8	Broad	catenin, alpha 3			69407205		0.393	ENSG00000183230	3943	g.chr10:69407205C>T	cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity							77.873564	KEEP	10	17	-1	11	19	10	17	-1	77.873564	11	19	0.5	1	0	0	0	0	1	0	0	0	--	--		0	T			CTNNA3_uc001jmw.2_Missense_Mutation_p.V23M|CTNNA3_uc001jmx.3_Missense_Mutation_p.V23M|CTNNA3_uc009xpo.1_Translation_Start_Site|CTNNA3_uc001jna.2_Missense_Mutation_p.V35M	96	GBM-06-5413-TP	p.V23M	C	AGCTTCTCCACGGTGAATGTT	NM_001127384	NP_001120856	69407205	Q9UI47	CTNA3_HUMAN	0			2	190	-	T	T			Missense_Mutation	23						
CTNND1	0	broad.mit.edu	GRCh37	11	57559037	57559037	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5220-01	TCGA-28-5220-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399050.4:c.87G>A	p.Ala29=	p.A29=	ENST00000399050	NM_001085458.1	29	gcG/gcA	0			1			A	A	uc001nmc.3	protein_coding	YES	CCDS44604.1			87/2907									breast(4)|ovary(1)|kidney(1)	6	c.(85-87)GCG>GCA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10372:SF6,hmmpanther:PTHR10372	catenin, delta 1 isoform 1ABC				ENSP00000382004		21-Mar	1.65E-05					1.64E-05			rs770149220,COSM3397884,COSM3397883	21-Mar	.		ENST00000399050	Transcript			adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	ENSG00000198561	g.chr11:57559037G>A	2515			LOW								--	--	1																																		CTNND1_uc001nlf.1_Silent_p.A29A|CTNND1_uc001nlh.1_Silent_p.A29A|CTNND1_uc001nlu.3_Intron|CTNND1_uc001nlt.3_Intron|CTNND1_uc001nls.3_Intron|CTNND1_uc001nlw.3_Intron|CTNND1_uc001nmf.3_Silent_p.A29A|CTNND1_uc001nmd.3_5'UTR|CTNND1_uc001nlk.3_5'UTR|CTNND1_uc001nme.3_Silent_p.A29A|CTNND1_uc001nll.3_5'UTR|CTNND1_uc001nmg.3_5'UTR|CTNND1_uc001nlj.3_5'UTR|CTNND1_uc001nlr.3_5'UTR|CTNND1_uc001nlp.3_5'UTR|CTNND1_uc001nlx.3_Intron|CTNND1_uc001nlz.3_Intron|CTNND1_uc009ymn.2_Intron|CTNND1_uc001nlm.3_Silent_p.A29A|CTNND1_uc001nly.3_Intron|CTNND1_uc001nmb.3_Intron|CTNND1_uc001nma.3_Intron|CTNND1_uc001nmi.3_Intron|CTNND1_uc001nmh.3_Silent_p.A29A|CTNND1_uc001nlq.3_Intron|CTNND1_uc001nln.3_Silent_p.A29A|CTNND1_uc001nli.3_Silent_p.A29A|CTNND1_uc001nlo.3_Intron|CTNND1_uc001nlv.3_Intron	0,1,1	1			p.A29A	NM_001085458	NP_001078927			0,1,1	CTND1_HUMAN	CTNND1	HGNC	O60716	CTND1_HUMAN			E9PKY0_HUMAN,E9PKL1_HUMAN		3	658	+		all_epithelial(135;0.155)	UPI000012860B	29			Potential.		SNV	CTNND1,synonymous_variant,p.=,ENST00000524630,;CTNND1,synonymous_variant,p.=,ENST00000399050,NM_001085458.1;CTNND1,synonymous_variant,p.=,ENST00000361332,NM_001085459.1;CTNND1,synonymous_variant,p.=,ENST00000360682,;CTNND1,synonymous_variant,p.=,ENST00000361796,NM_001206885.1,NM_001085461.1;CTNND1,synonymous_variant,p.=,ENST00000361391,NM_001331.2;CTNND1,synonymous_variant,p.=,ENST00000358694,NM_001085460.1;CTNND1,synonymous_variant,p.=,ENST00000428599,NM_001085462.1;CTNND1,synonymous_variant,p.=,ENST00000399039,;CTNND1,synonymous_variant,p.=,ENST00000529919,;CTNND1,synonymous_variant,p.=,ENST00000526938,;CTNND1,5_prime_UTR_variant,,ENST00000529526,NM_001206891.1;CTNND1,5_prime_UTR_variant,,ENST00000532649,NM_001206889.1;CTNND1,5_prime_UTR_variant,,ENST00000534579,;CTNND1,5_prime_UTR_variant,,ENST00000532844,NM_001206883.1;CTNND1,5_prime_UTR_variant,,ENST00000526357,NM_001206886.1;CTNND1,5_prime_UTR_variant,,ENST00000529873,NM_001206887.1;CTNND1,5_prime_UTR_variant,,ENST00000530748,NM_001206884.1;CTNND1,5_prime_UTR_variant,,ENST00000528621,NM_001206888.1;CTNND1,5_prime_UTR_variant,,ENST00000534647,;CTNND1,5_prime_UTR_variant,,ENST00000530068,;CTNND1,intron_variant,,ENST00000415361,NM_001085463.1;CTNND1,intron_variant,,ENST00000530094,NM_001085464.1;CTNND1,intron_variant,,ENST00000426142,NM_001085467.1;CTNND1,intron_variant,,ENST00000532787,NM_001085465.1;CTNND1,intron_variant,,ENST00000532463,NM_001206890.1;CTNND1,intron_variant,,ENST00000528232,NM_001085466.1;CTNND1,intron_variant,,ENST00000529986,NM_001085468.1;CTNND1,intron_variant,,ENST00000532245,NM_001085469.1;CTNND1,intron_variant,,ENST00000527467,;CTNND1,intron_variant,,ENST00000531014,;CTNND1,intron_variant,,ENST00000533667,;CTNND1,intron_variant,,ENST00000525902,;CTNND1,intron_variant,,ENST00000526772,;CTNND1,intron_variant,,ENST00000533189,;CTNND1,downstream_gene_variant,,ENST00000524579,;TMX2-CTNND1,3_prime_UTR_variant,,ENST00000528395,;RP11-691N7.6,3_prime_UTR_variant,,ENST00000531074,;	uc001nmc.3	c.87G>A	623/6313	2	2			c.87G>A						11	SNP	c.(85-87)GCG>GCA	47	47			breast(4)|ovary(1)|kidney(1)	6	Broad	catenin, delta 1 isoform 1ABC			57559037		0.637	ENSG00000198561	3948	g.chr11:57559037G>A	adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding							-1.100893	KEEP	1	2	-1	21	18	1	2	-1	6.573561	21	18	0.073171	1	0	0	0	0	0	0	1	0	--	--		0	A			CTNND1_uc001nlf.1_Silent_p.A29A|CTNND1_uc001nlh.1_Silent_p.A29A|CTNND1_uc001nlu.3_Intron|CTNND1_uc001nlt.3_Intron|CTNND1_uc001nls.3_Intron|CTNND1_uc001nlw.3_Intron|CTNND1_uc001nmf.3_Silent_p.A29A|CTNND1_uc001nmd.3_5'UTR|CTNND1_uc001nlk.3_5'UTR|CTNND1_uc001nme.3_Silent_p.A29A|CTNND1_uc001nll.3_5'UTR|CTNND1_uc001nmg.3_5'UTR|CTNND1_uc001nlj.3_5'UTR|CTNND1_uc001nlr.3_5'UTR|CTNND1_uc001nlp.3_5'UTR|CTNND1_uc001nlx.3_Intron|CTNND1_uc001nlz.3_Intron|CTNND1_uc009ymn.2_Intron|CTNND1_uc001nlm.3_Silent_p.A29A|CTNND1_uc001nly.3_Intron|CTNND1_uc001nmb.3_Intron|CTNND1_uc001nma.3_Intron|CTNND1_uc001nmi.3_Intron|CTNND1_uc001nmh.3_Silent_p.A29A|CTNND1_uc001nlq.3_Intron|CTNND1_uc001nln.3_Silent_p.A29A|CTNND1_uc001nli.3_Silent_p.A29A|CTNND1_uc001nlo.3_Intron|CTNND1_uc001nlv.3_Intron	226	GBM-28-5220-TP	p.A29A	G	TGACCCGGGCGCTGGAGGAGG	NM_001085458	NP_001078927	57559037	O60716	CTND1_HUMAN	0			3	658	+	A	A		all_epithelial(135;0.155)	Silent	29			Potential.			
CTNND2	1501	broad.mit.edu	GRCh37	5	11082954	11082954	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01	TCGA-06-0686-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304623.8:c.2642C>T	p.Ser881Leu	p.S881L	ENST00000304623	NM_001332.2	881	tCa/tTa	0			1			A	S/L	uc003jfa.1	protein_coding	YES	CCDS3881.1			2642/3678									large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8	c.(2641-2643)TCA>TTA			Gene3D:1.25.10.10,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9,SMART_domains:SM00185,Superfamily_domains:SSF48371	catenin (cadherin-associated protein), delta 2				ENSP00000307134		16/22	1.65E-05				0.000152	1.51E-05			rs777753200,COSM2151588	16/22	.		ENST00000304623	Transcript	1		multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	ENSG00000169862	g.chr5:11082954G>A	2516			MODERATE		2.395	medium	getma.org/?cm=msa&ty=f&p=CTND2_HUMAN&rb=846&re=911&var=S881L	getma.org/pdb.php?prot=CTND2_HUMAN&from=876&to=881&var=S881L	getma.org/?cm=var&var=hg19,5,11082954,G,A&fts=all	S881L	--	--	1																																		CTNND2_uc010itt.2_Missense_Mutation_p.S790L|CTNND2_uc011cmy.1_Missense_Mutation_p.S544L|CTNND2_uc011cmz.1_Missense_Mutation_p.S448L|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.S473L	0,1	1		probably_damaging(0.968)	p.S881L	NM_001332	NP_001323		deleterious(0)	0,1	CTND2_HUMAN	CTNND2	HGNC	Q9UQB3	CTND2_HUMAN			E7EPC8_HUMAN,D6RF55_HUMAN,D6RBA8_HUMAN,D6R9A8_HUMAN		16	2787	-			UPI000013E9AB	881					SNV	CTNND2,missense_variant,p.Ser881Leu,ENST00000304623,NM_001332.2,NM_001288716.1,NM_001288715.1;CTNND2,missense_variant,p.Ser823Leu,ENST00000359640,;CTNND2,missense_variant,p.Ser790Leu,ENST00000511377,;CTNND2,missense_variant,p.Ser448Leu,ENST00000458100,;CTNND2,missense_variant,p.Ser544Leu,ENST00000503622,;CTNND2,non_coding_transcript_exon_variant,,ENST00000495388,;CTNND2,missense_variant,p.Ser660Leu,ENST00000513588,;CTNND2,3_prime_UTR_variant,,ENST00000504499,;	uc003jfa.1	c.2642C>T	2832/5481	1	1			c.2642C>T						5	SNP	c.(2641-2643)TCA>TTA	50	50			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8	Broad	catenin (cadherin-associated protein), delta 2			11082954		0.537	ENSG00000169862	3949	g.chr5:11082954G>A	multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding							78.841204	KEEP	11	16	-1	19	15	11	16	-1	79.022285	19	15	0.440678	1	0	0	0	0	1	0	0	0	--	--		0	A			CTNND2_uc010itt.2_Missense_Mutation_p.S790L|CTNND2_uc011cmy.1_Missense_Mutation_p.S544L|CTNND2_uc011cmz.1_Missense_Mutation_p.S448L|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.S473L	64	GBM-06-0686-TP	p.S881L	G	GATATATACTGACCACTGCAA	NM_001332	NP_001323	11082954	Q9UQB3	CTND2_HUMAN	0			16	2787	-	A	A			Missense_Mutation	881						
CTNND2	1501	broad.mit.edu	GRCh37	5	11022883	11022883	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0878-01	TCGA-06-0878-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304623.8:c.2997T>G	p.Asp999Glu	p.D999E	ENST00000304623	NM_001332.2	999	gaT/gaG	0			1			C	D/E	uc003jfa.1	protein_coding	YES	CCDS3881.1			2997/3678									large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8	c.(2995-2997)GAT>GAG			Gene3D:1.25.10.10,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9,SMART_domains:SM00185,Superfamily_domains:SSF48371	catenin (cadherin-associated protein), delta 2				ENSP00000307134		17/22									COSM2152213	17/22	.		ENST00000304623	Transcript	1		multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	ENSG00000169862	g.chr5:11022883A>C	2516			MODERATE		0.865	low	getma.org/?cm=msa&ty=f&p=CTND2_HUMAN&rb=922&re=1121&var=D999E	getma.org/pdb.php?prot=CTND2_HUMAN&from=922&to=1121&var=D999E	getma.org/?cm=var&var=hg19,5,11022883,A,C&fts=all	D999E	--	--	1																																		CTNND2_uc010itt.2_Missense_Mutation_p.D908E|CTNND2_uc011cmy.1_Missense_Mutation_p.D662E|CTNND2_uc011cmz.1_Missense_Mutation_p.D566E|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.D591E	1	1		benign(0.004)	p.D999E	NM_001332	NP_001323		tolerated(0.15)	1	CTND2_HUMAN	CTNND2	HGNC	Q9UQB3	CTND2_HUMAN			E7EPC8_HUMAN,D6RF55_HUMAN,D6RBA8_HUMAN,D6R9A8_HUMAN		17	3142	-			UPI000013E9AB	999			ARM 9.		SNV	CTNND2,missense_variant,p.Asp999Glu,ENST00000304623,NM_001332.2,NM_001288716.1,NM_001288715.1;CTNND2,missense_variant,p.Asp941Glu,ENST00000359640,;CTNND2,missense_variant,p.Asp908Glu,ENST00000511377,;CTNND2,missense_variant,p.Asp566Glu,ENST00000458100,;CTNND2,missense_variant,p.Asp662Glu,ENST00000503622,;RNU6-429P,upstream_gene_variant,,ENST00000384582,;CTNND2,splice_region_variant,,ENST00000495388,;CTNND2,upstream_gene_variant,,ENST00000506324,;CTNND2,missense_variant,p.Asp778Glu,ENST00000513588,;CTNND2,splice_region_variant,,ENST00000504499,;	uc003jfa.1	c.2997T>G	3187/5481	4	4			c.2997T>G						5	SNP	c.(2995-2997)GAT>GAG	36	36			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8	Broad	catenin (cadherin-associated protein), delta 2			11022883		0.488	ENSG00000169862	3949	g.chr5:11022883A>C	multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding							142.660759	KEEP	15	33	-1	34	49	15	33	-1	145.076219	34	49	0.352	1	0	0	0	0	1	0	0	0	--	--		0	C			CTNND2_uc010itt.2_Missense_Mutation_p.D908E|CTNND2_uc011cmy.1_Missense_Mutation_p.D662E|CTNND2_uc011cmz.1_Missense_Mutation_p.D566E|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.D591E	74	GBM-06-0878-TP	p.D999E	A	TAACTTACTTATCTCCTTTGC	NM_001332	NP_001323	11022883	Q9UQB3	CTND2_HUMAN	0			17	3142	-	C	C			Missense_Mutation	999			ARM 9.			
CTNND2	1501	broad.mit.edu	GRCh37	5	11565132	11565132	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01	TCGA-06-2562-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304623.8:c.211G>A	p.Ala71Thr	p.A71T	ENST00000304623	NM_001332.2	71	Gct/Act	0			1			T	A/T	uc003jfa.1	protein_coding	YES	CCDS3881.1			211/3678									large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8	c.(211-213)GCT>ACT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9	catenin (cadherin-associated protein), delta 2				ENSP00000307134		22-Mar									COSM1567548	22-Mar	.		ENST00000304623	Transcript	1		multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	ENSG00000169862	g.chr5:11565132C>T	2516			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=CTND2_HUMAN&rb=41&re=85&var=A71T	NA	getma.org/?cm=var&var=hg19,5,11565132,C,T&fts=all	A71T	--	--	1																																		CTNND2_uc010itt.2_5'UTR|CTNND2_uc011cmy.1_5'UTR|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA	1	1		possibly_damaging(0.776)	p.A71T	NM_001332	NP_001323		tolerated(0.13)	1	CTND2_HUMAN	CTNND2	HGNC	Q9UQB3	CTND2_HUMAN			E7EPC8_HUMAN,D6RF55_HUMAN,D6RBA8_HUMAN,D6R9A8_HUMAN		3	356	-			UPI000013E9AB	71			Potential.		SNV	CTNND2,missense_variant,p.Ala71Thr,ENST00000304623,NM_001332.2,NM_001288716.1,NM_001288715.1;CTNND2,missense_variant,p.Ala71Thr,ENST00000359640,;CTNND2,missense_variant,p.Ala57Thr,ENST00000508761,;CTNND2,missense_variant,p.Ala57Thr,ENST00000502551,;CTNND2,5_prime_UTR_variant,,ENST00000511377,;CTNND2,5_prime_UTR_variant,,ENST00000458100,;CTNND2,5_prime_UTR_variant,,ENST00000503622,;CTNND2,5_prime_UTR_variant,,ENST00000513598,;CTNND2,non_coding_transcript_exon_variant,,ENST00000504354,;CTNND2,non_coding_transcript_exon_variant,,ENST00000511278,;CTNND2,non_coding_transcript_exon_variant,,ENST00000509868,;CTNND2,missense_variant,p.Ala71Thr,ENST00000513588,;CTNND2,missense_variant,p.Ala71Thr,ENST00000504499,;	uc003jfa.1	c.211G>A	401/5481	2	2			c.211G>A						5	SNP	c.(211-213)GCT>ACT	24	24			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8	Broad	catenin (cadherin-associated protein), delta 2			11565132		0.502	ENSG00000169862	3949	g.chr5:11565132C>T	multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding							77.852315	KEEP	17	14	-1	34	43	17	14	-1	81.348404	34	43	0.298969	1	0	0	0	0	1	0	0	0	--	--		0	T			CTNND2_uc010itt.2_5'UTR|CTNND2_uc011cmy.1_5'UTR|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA	85	GBM-06-2562-TP	p.A71T	C	TGCCGTTCAGCCTCCAGCTCT	NM_001332	NP_001323	11565132	Q9UQB3	CTND2_HUMAN	0			3	356	-	T	T			Missense_Mutation	71			Potential.			
CTNND2	0	broad.mit.edu	GRCh37	5	11199757	11199757	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4210-01	TCGA-32-4210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304623.8:c.1778G>A	p.Gly593Asp	p.G593D	ENST00000304623	NM_001332.2	593	gGc/gAc	0			1			T	G/D	uc003jfa.1	protein_coding	YES	CCDS3881.1			1778/3678									large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8	c.(1777-1779)GGC>GAC			Gene3D:1.25.10.10,Pfam_domain:PF00514,PROSITE_profiles:PS50176,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9,SMART_domains:SM00185,Superfamily_domains:SSF48371	catenin (cadherin-associated protein), delta 2				ENSP00000307134		22-Nov									COSM3409663	22-Nov	.		ENST00000304623	Transcript	1		multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	ENSG00000169862	g.chr5:11199757C>T	2516			MODERATE		3.085	medium	getma.org/?cm=msa&ty=f&p=CTND2_HUMAN&rb=581&re=621&var=G593D	getma.org/pdb.php?prot=CTND2_HUMAN&from=581&to=621&var=G593D	getma.org/?cm=var&var=hg19,5,11199757,C,T&fts=all	G593D	--	--	1																																		CTNND2_uc010itt.2_Missense_Mutation_p.G502D|CTNND2_uc011cmy.1_Missense_Mutation_p.G256D|CTNND2_uc011cmz.1_Missense_Mutation_p.G160D|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.G160D	1	1		probably_damaging(1)	p.G593D	NM_001332	NP_001323		deleterious(0)	1	CTND2_HUMAN	CTNND2	HGNC	Q9UQB3	CTND2_HUMAN			E7EPC8_HUMAN,D6RF55_HUMAN,D6RBA8_HUMAN,D6R9A8_HUMAN		11	1923	-			UPI000013E9AB	593			ARM 3.		SNV	CTNND2,missense_variant,p.Gly593Asp,ENST00000304623,NM_001332.2,NM_001288716.1,NM_001288715.1;CTNND2,missense_variant,p.Gly593Asp,ENST00000359640,;CTNND2,missense_variant,p.Gly502Asp,ENST00000511377,;CTNND2,missense_variant,p.Gly160Asp,ENST00000458100,;CTNND2,missense_variant,p.Gly256Asp,ENST00000503622,;CTNND2,non_coding_transcript_exon_variant,,ENST00000495388,;CTNND2,missense_variant,p.Gly347Asp,ENST00000513588,;CTNND2,3_prime_UTR_variant,,ENST00000504499,;	uc003jfa.1	c.1778G>A	1968/5481	1	1			c.1778G>A						5	SNP	c.(1777-1779)GGC>GAC	6	6			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8	Broad	catenin (cadherin-associated protein), delta 2			11199757		0.473	ENSG00000169862	3949	g.chr5:11199757C>T	multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding							165.703818	KEEP	30	35	-1	48	66	30	35	-1	168.159491	48	66	0.367089	1	0	0	0	0	1	0	0	0	--	--		0	T			CTNND2_uc010itt.2_Missense_Mutation_p.G502D|CTNND2_uc011cmy.1_Missense_Mutation_p.G256D|CTNND2_uc011cmz.1_Missense_Mutation_p.G160D|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.G160D	245	GBM-32-4210-TP	p.G593D	C	GAGCTGGATGCCTCCTTGTCT	NM_001332	NP_001323	11199757	Q9UQB3	CTND2_HUMAN	0			11	1923	-	T	T			Missense_Mutation	593			ARM 3.			
CTPS1	0	broad.mit.edu	GRCh37	1	41461704	41461705	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-81-5910-01	TCGA-81-5910-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372616.1:c.841dupA	p.Met281AsnfsTer10	p.M281Nfs*10	ENST00000372616		279	aga/agAa	0			1			A	R/RX	uc001cgk.3	protein_coding		CCDS459.1			836-837/1776										0	c.(835-837)AGAfs			HAMAP:MF_01227,hmmpanther:PTHR11550,hmmpanther:PTHR11550:SF3,TIGRFAM_domain:TIGR00337,Gene3D:3.40.50.300	CTP synthase	L-Glutamine(DB00130)			ENSP00000361699		18-Jul										18-Jul	.		ENST00000372616	Transcript	1		CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding	ENSG00000171793	g.chr1:41461704_41461705insA	2519	5		HIGH								--	--	1																																		CTPS_uc010ojo.1_Frame_Shift_Ins_p.R48fs|CTPS_uc010ojp.1_Frame_Shift_Ins_p.R286fs|CTPS_uc001cgl.3_Frame_Shift_Ins_p.R279fs|CTPS_uc010ojq.1_Frame_Shift_Ins_p.R123fs|CTPS_uc009vwe.2_5'UTR					p.R279fs	NM_001905	NP_001896				PYRG1_HUMAN	CTPS1	HGNC	P17812	PYRG1_HUMAN			B4E1E0_HUMAN,B4DR64_HUMAN		8	1344_1345	+	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	UPI0000132D63	279					insertion	CTPS1,frameshift_variant,p.Met281AsnfsTer10,ENST00000372621,NM_001905.2;CTPS1,frameshift_variant,p.Met281AsnfsTer10,ENST00000372616,;CTPS1,frameshift_variant,p.Met50AsnfsTer10,ENST00000541520,;CTPS1,frameshift_variant,p.Met288AsnfsTer10,ENST00000543104,;CTPS1,non_coding_transcript_exon_variant,,ENST00000480420,;CTPS1,non_coding_transcript_exon_variant,,ENST00000463285,;CTPS1,downstream_gene_variant,,ENST00000479480,;CTPS1,upstream_gene_variant,,ENST00000486889,;CTPS1,upstream_gene_variant,,ENST00000497210,;	uc001cgk.3	c.836_837insA	966-967/2037	5	5			c.836_837insA						1	INS	c.(835-837)AGAfs	48	48				0	Broad	CTP synthase		L-Glutamine(DB00130)	41461705		0.475	ENSG00000171793	3951	g.chr1:41461704_41461705insA	CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding																				0.45	1	0	0	1	1	0	0	0	0	--	--		0	A			CTPS_uc010ojo.1_Frame_Shift_Ins_p.R48fs|CTPS_uc010ojp.1_Frame_Shift_Ins_p.R286fs|CTPS_uc001cgl.3_Frame_Shift_Ins_p.R279fs|CTPS_uc010ojq.1_Frame_Shift_Ins_p.R123fs|CTPS_uc009vwe.2_5'UTR	289	GBM-81-5910-TP	p.R279fs	-	AGGCAGCCAAGAAAAATGCTGA	NM_001905	NP_001896	41461704	P17812	PYRG1_HUMAN	0			8	1344_1345	+	A	A	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	Frame_Shift_Ins	279						
CTSF	0	broad.mit.edu	GRCh37	11	66328735	66328737	+	inframe_deletion	In_Frame_Del	DEL	AGG	AGG	-			TCGA-76-4932-01	TCGA-76-4932-01	AGG	AGG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000513398.1:c.1903_1905delGAG	p.Glu635del	p.E635del	ENST00000513398	NM_001104.2	633	cAGGag/cag	0			1			-		uc001oio.1	protein_coding	YES	CCDS8144.1			-/1455										0	c.(1897-1902)CAGGAG>CAG	2197			actinin, alpha 3				ENSP00000310832													.		ENST00000310325	Transcript	1		focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	ENSG00000174080	g.chr11:66328735_66328737delAGG	2531			MODIFIER								--	--	1																																		ACTN3_uc010rpi.1_RNA		1			p.E635del	NM_001104	NP_001095				CATF_HUMAN	CTSF	HGNC	Q08043	ACTN3_HUMAN			E9PSC2_HUMAN		17	1916_1918	+			UPI0000001657	635					deletion	CTSF,downstream_gene_variant,,ENST00000310325,NM_003793.3;CTSF,downstream_gene_variant,,ENST00000524994,;CTD-3074O7.2,upstream_gene_variant,,ENST00000504911,;CTSF,downstream_gene_variant,,ENST00000527141,;CTSF,downstream_gene_variant,,ENST00000525733,;CTSF,downstream_gene_variant,,ENST00000529199,;CTSF,downstream_gene_variant,,ENST00000530565,;ACTN3,inframe_deletion,p.Glu678del,ENST00000502692,NM_001258371.1;ACTN3,inframe_deletion,p.Glu635del,ENST00000513398,NM_001104.2;	uc001oio.1	c.1898_1900delAGG	-/2035	5	5			c.1898_1900delAGG						11	DEL	c.(1897-1902)CAGGAG>CAG	7	7				0	Broad	actinin, alpha 3			66328737		0.621	ENSG00000174080	206	g.chr11:66328735_66328737delAGG	focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle																				0.27	1	1	0	1	0	0	0	0	0	--	--		0	-			ACTN3_uc010rpi.1_RNA	271	GBM-76-4932-TP	p.E635del	AGG	CAGACACTGCAGGAGGAGCTGGC	NM_001104	NP_001095	66328735	Q08043	ACTN3_HUMAN	0			17	1916_1918	+	-	-			In_Frame_Del	635						
CTSG	1511	broad.mit.edu	GRCh37	14	25043567	25043567	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0686-01	TCGA-06-0686-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216336.2:c.478C>T	p.Arg160Ter	p.R160*	ENST00000216336	NM_001911.2	160	Cga/Tga	0			1			A	R/*	uc001wpq.2	protein_coding	YES	CCDS9631.1			478/768									ovary(2)	2	c.(478-480)CGA>TGA			Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24271,hmmpanther:PTHR24271:SF13,SMART_domains:SM00020,Superfamily_domains:SSF50494	cathepsin G preproprotein				ENSP00000216336		5-Apr	8.24E-06			0.000116					rs752443546,COSM236081	5-Apr	.		ENST00000216336	Transcript			immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	ENSG00000100448	g.chr14:25043567G>A	2532			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,14,25043567,G,A&fts=all	R160*	--	--	1																																			0,1	1			p.R160*	NM_001911	NP_001902			0,1	CATG_HUMAN	CTSG	HGNC	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)			4	515	-			UPI00001270AC	160			Peptidase S1.		SNV	CTSG,stop_gained,p.Arg160Ter,ENST00000216336,NM_001911.2;CTSG,non_coding_transcript_exon_variant,,ENST00000552252,;	uc001wpq.2	c.478C>T	515/886	5	2			c.478C>T						14	SNP	c.(478-480)CGA>TGA	42	42			ovary(2)	2	Broad	cathepsin G preproprotein			25043567		0.642	ENSG00000100448	3963	g.chr14:25043567G>A	immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity							178.502844	KEEP	40	26	-1	44	39	40	26	-1	179.118825	44	39	0.428571	1	0	0	0	0	0	1	0	0	--	--		0	A				64	GBM-06-0686-TP	p.R160*	G	TGCACCTCTCGGAGTGTATCT	NM_001911	NP_001902	25043567	P08311	CATG_HUMAN	0		GBM - Glioblastoma multiforme(265;0.0269)	4	515	-	A	A			Nonsense_Mutation	160			Peptidase S1.			
CTSG	0	broad.mit.edu	GRCh37	14	25043934	25043934	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-26-5135-01	TCGA-26-5135-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216336.2:c.286C>A	p.Arg96Ser	p.R96S	ENST00000216336	NM_001911.2	96	Cgc/Agc	0			1			T	R/S	uc001wpq.2	protein_coding	YES	CCDS9631.1			286/768									ovary(2)	2	c.(286-288)CGC>AGC			Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24271,hmmpanther:PTHR24271:SF13,SMART_domains:SM00020,Superfamily_domains:SSF50494	cathepsin G preproprotein				ENSP00000216336		5-Mar									COSM2157083	5-Mar	.		ENST00000216336	Transcript			immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	ENSG00000100448	g.chr14:25043934G>T	2532			MODERATE		0.355	neutral	getma.org/?cm=msa&ty=f&p=CATG_HUMAN&rb=21&re=238&var=R96S	getma.org/pdb.php?prot=CATG_HUMAN&from=21&to=238&var=R96S	getma.org/?cm=var&var=hg19,14,25043934,G,T&fts=all	R96S	--	--	1																																			1	1		possibly_damaging(0.62)	p.R96S	NM_001911	NP_001902		tolerated(0.05)	1	CATG_HUMAN	CTSG	HGNC	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)			3	323	-			UPI00001270AC	96			Peptidase S1.		SNV	CTSG,missense_variant,p.Arg96Ser,ENST00000216336,NM_001911.2;CTSG,non_coding_transcript_exon_variant,,ENST00000552252,;	uc001wpq.2	c.286C>A	323/886	2	2			c.286C>A						14	SNP	c.(286-288)CGC>AGC	22	22			ovary(2)	2	Broad	cathepsin G preproprotein			25043934		0.532	ENSG00000100448	3963	g.chr14:25043934G>T	immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity							227.695617	KEEP	43	34	0.558441558	55	54	43	34	0.558441558	228.59382	55	54	0.423729	1	0	0	0	0	1	0	0	0	--	--		0	T				184	GBM-26-5135-TP	p.R96S	G	TGAGGGTGGCGGATGGCTCTG	NM_001911	NP_001902	25043934	P08311	CATG_HUMAN	0		GBM - Glioblastoma multiforme(265;0.0269)	3	323	-	T	T			Missense_Mutation	96			Peptidase S1.			
CTSG	1511		GRCh37	14	25043946	25043946	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000216336.2:c.274C>T	p.Arg92Cys	p.R92C	ENST00000216336	NM_001911.2	92	Cgc/Tgc	0																																																																																																																																																																																																																																												
CTSK	0	broad.mit.edu	GRCh37	1	150771721	150771721	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-5133-01	TCGA-26-5133-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271651.3:c.813C>T	p.Ser271=	p.S271=	ENST00000271651	NM_000396.3	271	agC/agT	0			1			A	S	uc001evp.1	protein_coding	YES	CCDS969.1			813/990									skin(1)	1	c.(811-813)AGC>AGT			hmmpanther:PTHR12411,hmmpanther:PTHR12411:SF55,Gene3D:3.90.70.10,Pfam_domain:PF00112,SMART_domains:SM00645,Superfamily_domains:SSF54001	cathepsin K preproprotein				ENSP00000271651		8-Jul									COSM2182509	8-Jul	.		ENST00000271651	Transcript	1		proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding	ENSG00000143387	g.chr1:150771721G>A	2536			LOW								--	--	1																																		CTSK_uc001evq.1_Silent_p.S182S	1	1			p.S271S	NM_000396	NP_000387			1	CATK_HUMAN	CTSK	HGNC	P43235	CATK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)				7	937	-	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UPI0000000DFB	271					SNV	CTSK,synonymous_variant,p.=,ENST00000271651,NM_000396.3;CTSK,downstream_gene_variant,,ENST00000443913,;CTSK,downstream_gene_variant,,ENST00000480670,;UBE2D3P3,upstream_gene_variant,,ENST00000426992,;	uc001evp.1	c.813C>T	924/1692	1	1			c.813C>T						1	SNP	c.(811-813)AGC>AGT	62	62			skin(1)	1	Broad	cathepsin K preproprotein			150771721		0.433	ENSG00000143387	3965	g.chr1:150771721G>A	proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding							-34.686906	KEEP	3	2	-1	91	105	3	2	-1	8.428997	91	105	0.028409	1	0	0	0	0	0	0	1	0	--	--		0	A			CTSK_uc001evq.1_Silent_p.S182S	182	GBM-26-5133-TP	p.S271S	G	TCAGATTATCGCTATTGCAGC	NM_000396	NP_000387	150771721	P43235	CATK_HUMAN	0	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		7	937	-	A	A	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		Silent	271						
CTSS	0	broad.mit.edu	GRCh37	1	150727568	150727568	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2499-01	TCGA-28-2499-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368985.3:c.308G>A	p.Arg103Lys	p.R103K	ENST00000368985	NM_004079.4	103	aGa/aAa	0			1			T	R/K	uc001evn.2	protein_coding	YES	CCDS968.1			308/996										0	c.(307-309)AGA>AAA			hmmpanther:PTHR12411:SF54,hmmpanther:PTHR12411,Gene3D:3.90.70.10,Superfamily_domains:SSF54001	cathepsin S preproprotein				ENSP00000357981		8-Apr									COSM3399691	8-Apr	.		ENST00000368985	Transcript			immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity	ENSG00000163131	g.chr1:150727568C>T	2545			MODERATE		1.365	low	getma.org/?cm=msa&ty=f&p=CATS_HUMAN&rb=59&re=144&var=R103K	getma.org/pdb.php?prot=CATS_HUMAN&from=89&to=114&var=R103K	getma.org/?cm=var&var=hg19,1,150727568,C,T&fts=all	R103K	--	--	1																																		CTSS_uc010pcj.1_Intron|CTSS_uc001evo.1_Missense_Mutation_p.R103K	1	1		benign(0.008)	p.R103K	NM_004079	NP_004070		tolerated(0.42)	1	CATS_HUMAN	CTSS	HGNC	P25774	CATS_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)				4	441	-	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UPI000013DFE1	103					SNV	CTSS,missense_variant,p.Arg103Lys,ENST00000368985,NM_004079.4,NM_001199739.1;CTSS,intron_variant,,ENST00000448301,;CTSS,non_coding_transcript_exon_variant,,ENST00000480760,;CTSS,upstream_gene_variant,,ENST00000483930,;	uc001evn.2	c.308G>A	569/4107	1	1			c.308G>A						1	SNP	c.(307-309)AGA>AAA	16	16				0	Broad	cathepsin S preproprotein			150727568		0.353	ENSG00000163131	3969	g.chr1:150727568C>T	immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			120			120	509.202066	KEEP	93	102	-1	122	109	93	102	-1	510.047638	122	109	0.447592	1	0	0	0	0	1	0	0	0	--	--		0	T			CTSS_uc010pcj.1_Intron|CTSS_uc001evo.1_Missense_Mutation_p.R103K	208	GBM-28-2499-TP	p.R103K	C	TGTGATATTTCTCTGCCACTG	NM_004079	NP_004070	150727568	P25774	CATS_HUMAN	0	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)		4	441	-	T	T	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		Missense_Mutation	103						
CTSS	1520		GRCh37	1	150730364	150730364	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000368985.3:c.219C>T	p.Tyr73=	p.Y73=	ENST00000368985	NM_004079.4	73	taC/taT	0																																																																																																																																																																																																																																												
CTSV	0	broad.mit.edu	GRCh37	9	99800218	99800218	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-4927-01	TCGA-76-4927-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259470.5:c.108C>G	p.His36Gln	p.H36Q	ENST00000259470	NM_001333.3	36	caC/caG	0			1			C	H/Q	uc004awt.2	protein_coding	YES	CCDS6723.1			108/1005										0	c.(106-108)CAC>CAG			Gene3D:3.90.70.10,Pfam_domain:PF08246,hmmpanther:PTHR12411,hmmpanther:PTHR12411:SF306,SMART_domains:SM00848,Superfamily_domains:SSF54001	cathepsin L2 preproprotein				ENSP00000259470		8-Feb									COSM3413864	8-Feb	.		ENST00000259470	Transcript				lysosome	cysteine-type endopeptidase activity	ENSG00000136943	g.chr9:99800218G>C	2538			MODERATE		3.805	high	getma.org/?cm=msa&ty=f&p=CATL2_HUMAN&rb=29&re=88&var=H36Q	getma.org/pdb.php?prot=CATL2_HUMAN&from=29&to=88&var=H36Q	getma.org/?cm=var&var=hg19,9,99800218,G,C&fts=all	H36Q	--	--	1																																		CTSL2_uc010msi.2_Missense_Mutation_p.H36Q|CTSL2_uc004awu.2_5'UTR|CTSL2_uc010msj.1_5'UTR|CTSL2_uc010msk.2_5'UTR	1	1		probably_damaging(0.912)	p.H36Q	NM_001333	NP_001324		deleterious(0.02)	1	CATL2_HUMAN	CTSV	HGNC	O60911	CATL2_HUMAN					2	305	-		Acute lymphoblastic leukemia(62;0.0559)	UPI0000001C15	36					SNV	CTSV,missense_variant,p.His36Gln,ENST00000259470,NM_001333.3;CTSV,missense_variant,p.His36Gln,ENST00000538255,NM_001201575.1;CTSV,non_coding_transcript_exon_variant,,ENST00000479932,;	uc004awt.2	c.108C>G	358/1546	4	4			c.108C>G						9	SNP	c.(106-108)CAC>CAG	36	36				0	Broad	cathepsin L2 preproprotein			99800218		0.483	ENSG00000136943	3967	g.chr9:99800218G>C		lysosome	cysteine-type endopeptidase activity		p.H36H(BEN-Tumor)	95		p.H36H(BEN-Tumor)	95	198.275079	KEEP	36	37	-1	75	95	36	37	-1	205.12969	75	95	0.305419	1	0	0	0	0	1	0	0	0	--	--		0	C			CTSL2_uc010msi.2_Missense_Mutation_p.H36Q|CTSL2_uc004awu.2_5'UTR|CTSL2_uc010msj.1_5'UTR|CTSL2_uc010msk.2_5'UTR	267	GBM-76-4927-TP	p.H36Q	G	ATAATCTTCTGTGTGTTGCCT	NM_001333	NP_001324	99800218	O60911	CATL2_HUMAN	0			2	305	-	C	C		Acute lymphoblastic leukemia(62;0.0559)	Missense_Mutation	36						
CTSW	1521	broad.mit.edu	GRCh37	11	65647754	65647754	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01	TCGA-06-0876-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307886.3:c.169G>A	p.Glu57Lys	p.E57K	ENST00000307886	NM_001335.3	57	Gaa/Aaa	0			1			A	E/K	uc001ogc.1	protein_coding	YES	CCDS8117.1			169/1131									central_nervous_system(1)	1	c.(169-171)GAA>AAA			hmmpanther:PTHR12411,hmmpanther:PTHR12411:SF269,Gene3D:3.90.70.10,Pfam_domain:PF08246,SMART_domains:SM00848,Superfamily_domains:SSF54001	cathepsin W preproprotein				ENSP00000311300		10-Feb									COSM2152076	10-Feb	.		ENST00000307886	Transcript			immune response|proteolysis		cysteine-type endopeptidase activity	ENSG00000172543	g.chr11:65647754G>A	2546			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=CATW_HUMAN&rb=42&re=99&var=E57K	NA	getma.org/?cm=var&var=hg19,11,65647754,G,A&fts=all	E57K	--	--	1																																		CTSW_uc001ogb.1_Missense_Mutation_p.E57K	1	1		benign(0.081)	p.E57K	NM_001335	NP_001326		tolerated(0.17)	1	CATW_HUMAN	CTSW	HGNC	P56202	CATW_HUMAN		READ - Rectum adenocarcinoma(159;0.168)			2	211	+			UPI000013EC6C	57					SNV	CTSW,missense_variant,p.Glu57Lys,ENST00000528419,;CTSW,missense_variant,p.Glu57Lys,ENST00000307886,NM_001335.3;CTSW,missense_variant,p.Glu56Lys,ENST00000526034,;FIBP,downstream_gene_variant,,ENST00000338369,NM_198897.1;FIBP,downstream_gene_variant,,ENST00000357519,NM_004214.4;FIBP,downstream_gene_variant,,ENST00000533045,;CTSW,non_coding_transcript_exon_variant,,ENST00000524681,;FIBP,downstream_gene_variant,,ENST00000533037,;FIBP,downstream_gene_variant,,ENST00000534032,;FIBP,downstream_gene_variant,,ENST00000532229,;FIBP,downstream_gene_variant,,ENST00000531115,;FIBP,downstream_gene_variant,,ENST00000525765,;FIBP,downstream_gene_variant,,ENST00000532934,;	uc001ogc.1	c.169G>A	215/1300	2	2			c.169G>A						11	SNP	c.(169-171)GAA>AAA	33	33			central_nervous_system(1)	1	Broad	cathepsin W preproprotein			65647754		0.269	ENSG00000172543	3970	g.chr11:65647754G>A	immune response|proteolysis		cysteine-type endopeptidase activity							65.738516	KEEP	11	12	-1	17	17	11	12	-1	66.219665	17	17	0.4	1	0	0	0	0	1	0	0	0	--	--		0	A			CTSW_uc001ogb.1_Missense_Mutation_p.E57K	72	GBM-06-0876-TP	p.E57K	G	CCTGAGCccagaaggtatcac	NM_001335	NP_001326	65647754	P56202	CATW_HUMAN	0		READ - Rectum adenocarcinoma(159;0.168)	2	211	+	A	A			Missense_Mutation	57						
CTTN	2017	broad.mit.edu	GRCh37	11	70279266	70279266	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5410-01	TCGA-06-5410-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376561.3:c.1215G>A	p.Pro405=	p.P405=	ENST00000376561	NM_001184740.1	405	ccG/ccA	0			1			A	P	uc001opv.3	protein_coding		CCDS41680.1			1326/1653									ovary(1)	1	c.(1324-1326)CCG>CCA			hmmpanther:PTHR10829,hmmpanther:PTHR10829:SF15	cortactin isoform a				ENSP00000301843		16/18	1.65E-05					1.52E-05		6.06E-05	rs778543584,COSM3398107,COSM3398106,COSM3398105	16/18	.		ENST00000301843	Transcript				cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	ENSG00000085733	g.chr11:70279266G>A	3338			LOW								--	--	1																																		CTTN_uc001opu.2_Silent_p.P405P|CTTN_uc001opw.3_Silent_p.P405P|CTTN_uc010rqm.1_Silent_p.P126P|CTTN_uc001opx.2_Silent_p.P126P	0,1,1,1				p.P442P	NM_005231	NP_005222			0,1,1,1	SRC8_HUMAN	CTTN	HGNC	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	Q76MU0_HUMAN,E9PP90_HUMAN,E9PKG3_HUMAN		16	1532	+			UPI000013D657	442					SNV	CTTN,synonymous_variant,p.=,ENST00000301843,NM_005231.3;CTTN,synonymous_variant,p.=,ENST00000346329,NM_138565.2;CTTN,synonymous_variant,p.=,ENST00000376561,NM_001184740.1;CTTN,synonymous_variant,p.=,ENST00000538675,;CTTN,synonymous_variant,p.=,ENST00000529736,;CTTN,downstream_gene_variant,,ENST00000527962,;CTTN,downstream_gene_variant,,ENST00000498223,;CTTN,synonymous_variant,p.=,ENST00000533931,;CTTN,3_prime_UTR_variant,,ENST00000393747,;	uc001opv.3	c.1326G>A	1532/3272	2	2			c.1326G>A						11	SNP	c.(1324-1326)CCG>CCA	18	18			ovary(1)	1	Broad	cortactin isoform a			70279266		0.652	ENSG00000085733	3972	g.chr11:70279266G>A		cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			187			187	-21.317905	KEEP	0	3	-1	54	61	0	3	-1	6.335138	54	61	0.026786	1	0	0	0	0	0	0	1	0	--	--		0	A			CTTN_uc001opu.2_Silent_p.P405P|CTTN_uc001opw.3_Silent_p.P405P|CTTN_uc010rqm.1_Silent_p.P126P|CTTN_uc001opx.2_Silent_p.P126P	93	GBM-06-5410-TP	p.P442P	G	GGACGGAGCCGGAGCCCGTGT	NM_005231	NP_005222	70279266	Q14247	SRC8_HUMAN	0	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	16	1532	+	A	A			Silent	442						
CTTN	2017	broad.mit.edu	GRCh37	11	70255986	70255986	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5411-01	TCGA-06-5411-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376561.3:c.211G>A	p.Glu71Lys	p.E71K	ENST00000376561	NM_001184740.1	71	Gag/Aag	0			1			A	E/K	uc001opv.3	protein_coding		CCDS41680.1			211/1653									ovary(1)	1	c.(211-213)GAG>AAG			hmmpanther:PTHR10829,hmmpanther:PTHR10829:SF15	cortactin isoform a				ENSP00000301843		18-May									COSM3398101,COSM3398100,COSM3398099	18-May	.		ENST00000301843	Transcript				cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	ENSG00000085733	g.chr11:70255986G>A	3338			MODERATE		-0.515	neutral	getma.org/?cm=msa&ty=f&p=SRC8_HUMAN&rb=1&re=82&var=E71K	NA	getma.org/?cm=var&var=hg19,11,70255986,G,A&fts=all	E71K	--	--	1																																		CTTN_uc001opu.2_Missense_Mutation_p.E71K|CTTN_uc001opw.3_Missense_Mutation_p.E71K	1,1,1			benign(0.056)	p.E71K	NM_005231	NP_005222		tolerated(1)	1,1,1	SRC8_HUMAN	CTTN	HGNC	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	Q76MU0_HUMAN,E9PP90_HUMAN,E9PKG3_HUMAN		5	417	+			UPI000013D657	71					SNV	CTTN,missense_variant,p.Glu71Lys,ENST00000346329,NM_138565.2;CTTN,missense_variant,p.Glu71Lys,ENST00000301843,NM_005231.3;CTTN,missense_variant,p.Glu71Lys,ENST00000376561,NM_001184740.1;CTTN,missense_variant,p.Glu53Lys,ENST00000415461,;CTTN,non_coding_transcript_exon_variant,,ENST00000527622,;CTTN,downstream_gene_variant,,ENST00000482755,;CTTN,upstream_gene_variant,,ENST00000525276,;	uc001opv.3	c.211G>A	417/3272	2	2			c.211G>A						11	SNP	c.(211-213)GAG>AAG	23	23			ovary(1)	1	Broad	cortactin isoform a			70255986		0.468	ENSG00000085733	3972	g.chr11:70255986G>A		cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			187			187	-64.830021	KEEP	5	5	-1	156	191	5	5	-1	15.672835	156	191	0.030211	1	0	0	0	0	1	0	0	0	--	--		0	A			CTTN_uc001opu.2_Missense_Mutation_p.E71K|CTTN_uc001opw.3_Missense_Mutation_p.E71K	94	GBM-06-5411-TP	p.E71K	G	GACCCTTAAGGAGAAGGAACT	NM_005231	NP_005222	70255986	Q14247	SRC8_HUMAN	0	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	5	417	+	A	A			Missense_Mutation	71						
CTTN	0	broad.mit.edu	GRCh37	11	70266538	70266538	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01	TCGA-26-6174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301843.8:c.712G>A	p.Val238Met	p.V238M	ENST00000301843	NM_005231.3	238	Gtg/Atg	0			1			A	V/M	uc001opv.3	protein_coding		CCDS41680.1			712/1653									ovary(1)	1	c.(712-714)GTG>ATG			PROSITE_profiles:PS51090,hmmpanther:PTHR10829,hmmpanther:PTHR10829:SF15,Pfam_domain:PF02218	cortactin isoform a				ENSP00000301843		18-Oct									rs567039880,COSM3398104,COSM3398103,COSM3398102	18-Oct	.		ENST00000301843	Transcript				cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	ENSG00000085733	g.chr11:70266538G>A	3338			MODERATE		3.045	medium	getma.org/?cm=msa&ty=f&p=SRC8_HUMAN&rb=231&re=267&var=V238M	NA	getma.org/?cm=var&var=hg19,11,70266538,G,A&fts=all	V238M	--	--	1																																		CTTN_uc001opu.2_Missense_Mutation_p.V238M|CTTN_uc001opw.3_Missense_Mutation_p.V238M|CTTN_uc010rqm.1_Translation_Start_Site|CTTN_uc001opx.2_5'Flank	0,1,1,1			probably_damaging(0.928)	p.V238M	NM_005231	NP_005222		deleterious(0)	0,1,1,1	SRC8_HUMAN	CTTN	HGNC	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	Q76MU0_HUMAN,E9PP90_HUMAN,E9PKG3_HUMAN		10	918	+			UPI000013D657	238			Cortactin 5.		SNV	CTTN,missense_variant,p.Val238Met,ENST00000346329,NM_138565.2;CTTN,missense_variant,p.Val238Met,ENST00000301843,NM_005231.3;CTTN,missense_variant,p.Val238Met,ENST00000376561,NM_001184740.1;CTTN,5_prime_UTR_variant,,ENST00000527962,;CTTN,5_prime_UTR_variant,,ENST00000498223,;CTTN,upstream_gene_variant,,ENST00000538675,;CTTN,downstream_gene_variant,,ENST00000415461,;CTTN,non_coding_transcript_exon_variant,,ENST00000483662,;CTTN,upstream_gene_variant,,ENST00000525852,;CTTN,upstream_gene_variant,,ENST00000393747,;CTTN,downstream_gene_variant,,ENST00000525276,;CTTN,downstream_gene_variant,,ENST00000532334,;	uc001opv.3	c.712G>A	918/3272	2	2			c.712G>A						11	SNP	c.(712-714)GTG>ATG	34	34			ovary(1)	1	Broad	cortactin isoform a			70266538		0.458	ENSG00000085733	3972	g.chr11:70266538G>A		cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			187			187	89.532397	KEEP	15	27	-1	49	63	15	27	-1	95.893538	49	63	0.272059	1	0	0	0	0	1	0	0	0	--	--		0	A			CTTN_uc001opu.2_Missense_Mutation_p.V238M|CTTN_uc001opw.3_Missense_Mutation_p.V238M|CTTN_uc010rqm.1_Translation_Start_Site|CTTN_uc001opx.2_5'Flank	188	GBM-26-6174-TP	p.V238M	G	AAAATTTGGTGTGCAGACAGA	NM_005231	NP_005222	70266538	Q14247	SRC8_HUMAN	0	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	10	918	+	A	A			Missense_Mutation	238			Cortactin 5.			
CTTNBP2	83992	broad.mit.edu	GRCh37	7	117431218	117431218	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5417-01	TCGA-06-5417-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000160373.3:c.2032C>T	p.Pro678Ser	p.P678S	ENST00000160373	NM_033427.2	678	Cca/Tca	0			1			A	P/S	uc003vjf.2	protein_coding	YES	CCDS5774.1			2032/4992									ovary(4)|central_nervous_system(1)	5	c.(2032-2034)CCA>TCA			hmmpanther:PTHR24166:SF11,hmmpanther:PTHR24166	cortactin binding protein 2				ENSP00000160373		23-Apr									COSM2153296	23-Apr	.		ENST00000160373	Transcript						ENSG00000077063	g.chr7:117431218G>A	15679			MODERATE		1.64	low	getma.org/?cm=msa&ty=f&p=CTTB2_HUMAN&rb=582&re=713&var=P678S	NA	getma.org/?cm=var&var=hg19,7,117431218,G,A&fts=all	P678S	--	--	1																																			1	1		benign(0.201)	p.P678S	NM_033427	NP_219499		tolerated(0.22)	1	CTTB2_HUMAN	CTTNBP2	HGNC	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	Q20BG9_HUMAN,Q20BG7_HUMAN,C9JVQ6_HUMAN,C9JFC9_HUMAN,C9J720_HUMAN		4	2124	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		UPI000006E94A	678					SNV	CTTNBP2,missense_variant,p.Pro678Ser,ENST00000160373,NM_033427.2;CTTNBP2,intron_variant,,ENST00000446636,;CTTNBP2,downstream_gene_variant,,ENST00000434890,;CTTNBP2,downstream_gene_variant,,ENST00000454375,;CTTNBP2,downstream_gene_variant,,ENST00000487820,;CTTNBP2,intron_variant,,ENST00000441556,;	uc003vjf.2	c.2032C>T	2124/5970	2	2			c.2032C>T						7	SNP	c.(2032-2034)CCA>TCA	30	30			ovary(4)|central_nervous_system(1)	5	Broad	cortactin binding protein 2			117431218		0.468	ENSG00000077063	3973	g.chr7:117431218G>A										671.039086	KEEP	124	123	-1	91	89	124	123	-1	673.116732	91	89	0.580822	1	0	0	0	0	1	0	0	0	--	--		0	A				99	GBM-06-5417-TP	p.P678S	G	GAGGCACCTGGTCTACAGGAT	NM_033427	NP_219499	117431218	Q8WZ74	CTTB2_HUMAN	0		LUSC - Lung squamous cell carcinoma(290;0.133)	4	2124	-	A	A	Lung NSC(10;0.0018)|all_lung(10;0.002)		Missense_Mutation	678						
CTTNBP2	0	broad.mit.edu	GRCh37	7	117400762	117400762	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000160373.3:c.2899G>T	p.Ala967Ser	p.A967S	ENST00000160373	NM_033427.2	967	Gct/Tct	0			1			A	A/S	uc003vjf.2	protein_coding	YES	CCDS5774.1			2899/4992									ovary(4)|central_nervous_system(1)	5	c.(2899-2901)GCT>TCT			hmmpanther:PTHR24166:SF11,hmmpanther:PTHR24166	cortactin binding protein 2				ENSP00000160373		23-Oct									COSM3411521	23-Oct	.		ENST00000160373	Transcript						ENSG00000077063	g.chr7:117400762C>A	15679			MODERATE		0.305	neutral	getma.org/?cm=msa&ty=f&p=CTTB2_HUMAN&rb=878&re=987&var=A967S	NA	getma.org/?cm=var&var=hg19,7,117400762,C,A&fts=all	A967S	--	--	1																																			1	1		benign(0.222)	p.A967S	NM_033427	NP_219499		tolerated(0.53)	1	CTTB2_HUMAN	CTTNBP2	HGNC	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	Q20BG9_HUMAN,Q20BG7_HUMAN,C9JVQ6_HUMAN,C9JFC9_HUMAN,C9J720_HUMAN		10	2991	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		UPI000006E94A	967					SNV	CTTNBP2,missense_variant,p.Ala967Ser,ENST00000160373,NM_033427.2;CTTNBP2,missense_variant,p.Ala455Ser,ENST00000446636,;CTTNBP2,upstream_gene_variant,,ENST00000435233,;CTTNBP2,upstream_gene_variant,,ENST00000416239,;CTTNBP2,splice_region_variant,,ENST00000441556,;CTTNBP2,splice_region_variant,,ENST00000467088,;CTTNBP2,upstream_gene_variant,,ENST00000482124,;	uc003vjf.2	c.2899G>T	2991/5970	2	2			c.2899G>T						7	SNP	c.(2899-2901)GCT>TCT	35	35			ovary(4)|central_nervous_system(1)	5	Broad	cortactin binding protein 2			117400762		0.284	ENSG00000077063	3973	g.chr7:117400762C>A										-41.383494	KEEP	2	2	0.5	89	117	2	2	0.5	7.109227	89	117	0.021164	1	0	0	0	0	1	0	0	0	--	--		0	A				229	GBM-32-1977-TP	p.A967S	C	ATTTTAAGAGCATCTGTTAGA	NM_033427	NP_219499	117400762	Q8WZ74	CTTB2_HUMAN	0		LUSC - Lung squamous cell carcinoma(290;0.133)	10	2991	-	A	A	Lung NSC(10;0.0018)|all_lung(10;0.002)		Missense_Mutation	967						
CTU2	348180	broad.mit.edu	GRCh37	16	88779258	88779258	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0745-01	TCGA-06-0745-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000453996.2:c.682C>A	p.Leu228Met	p.L228M	ENST00000453996	NM_001012759.1	228	Ctg/Atg	0			1			A	L/M	uc002flm.2	protein_coding	YES	CCDS45545.1			682/1548									skin(1)	1	c.(682-684)CTG>ATG			HAMAP:MF_03054,hmmpanther:PTHR20882	cytoplasmic tRNA 2-thiolation protein 2 isoform				ENSP00000388320		15-Jul	8.28E-06		8.92E-05						rs774592158,COSM2151724,COSM2151723,COSM3402540	15-Jul	.		ENST00000453996	Transcript			tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding	ENSG00000174177	g.chr16:88779258C>A	28005			MODERATE		2.19	medium	getma.org/?cm=msa&ty=f&p=CTU2_HUMAN&rb=201&re=270&var=L228M	NA	getma.org/?cm=var&var=hg19,16,88779258,C,A&fts=all	L228M	--	--	1																																		CTU2_uc002fln.2_Missense_Mutation_p.L228M|CTU2_uc010chz.2_Missense_Mutation_p.L299M|CTU2_uc010cia.2_Missense_Mutation_p.L141M	0,1,1,1	1		possibly_damaging(0.833)	p.L228M	NM_001012759	NP_001012777		deleterious(0.01)	0,1,1,1	CTU2_HUMAN	CTU2	HGNC	Q2VPK5	CTU2_HUMAN			H3BNU5_HUMAN,B4DS10_HUMAN		7	730	+			UPI0000251EAE	228					SNV	CTU2,missense_variant,p.Leu299Met,ENST00000567949,;CTU2,missense_variant,p.Leu228Met,ENST00000453996,NM_001012759.1;CTU2,missense_variant,p.Leu228Met,ENST00000312060,NM_001012762.1;CTU2,missense_variant,p.Leu141Met,ENST00000378384,;PIEZO1,downstream_gene_variant,,ENST00000301015,NM_001142864.2;PIEZO1,downstream_gene_variant,,ENST00000327397,;CTU2,downstream_gene_variant,,ENST00000564921,;PIEZO1,downstream_gene_variant,,ENST00000518793,;PIEZO1,downstream_gene_variant,,ENST00000466823,;CTU2,upstream_gene_variant,,ENST00000567316,;MIR4722,downstream_gene_variant,,ENST00000578292,;CTU2,3_prime_UTR_variant,,ENST00000564105,;CTU2,non_coding_transcript_exon_variant,,ENST00000566637,;PIEZO1,downstream_gene_variant,,ENST00000484567,;PIEZO1,downstream_gene_variant,,ENST00000419505,;PIEZO1,downstream_gene_variant,,ENST00000495568,;CTU2,upstream_gene_variant,,ENST00000564584,;CTU2,downstream_gene_variant,,ENST00000565071,;PIEZO1,downstream_gene_variant,,ENST00000521877,;PIEZO1,downstream_gene_variant,,ENST00000472168,;CTU2,upstream_gene_variant,,ENST00000562011,;	uc002flm.2	c.682C>A	750/1751	1	1			c.682C>A						16	SNP	c.(682-684)CTG>ATG	58	58			skin(1)	1	Broad	cytoplasmic tRNA 2-thiolation protein 2 isoform			88779258		0.562	ENSG00000174177	3975	g.chr16:88779258C>A	tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding							47.656815	KEEP	11	8	0.421052632	19	23	11	8	0.421052632	49.303665	19	23	0.314815	1	0	0	0	0	1	0	0	0	--	--		0	A			CTU2_uc002fln.2_Missense_Mutation_p.L228M|CTU2_uc010chz.2_Missense_Mutation_p.L299M|CTU2_uc010cia.2_Missense_Mutation_p.L141M	67	GBM-06-0745-TP	p.L228M	C	TCTTTCCCAACTGTTCTGCTC	NM_001012759	NP_001012777	88779258	Q2VPK5	CTU2_HUMAN	0			7	730	+	A	A			Missense_Mutation	228						
CUBN	8029	broad.mit.edu	GRCh37	10	17083094	17083094	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-2558-01	TCGA-06-2558-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377833.4:c.3955A>G	p.Asn1319Asp	p.N1319D	ENST00000377833	NM_001081.3	1319	Aac/Gac	0			1			C	N/D	uc001ioo.2	protein_coding	YES	CCDS7113.1			3955/10872									ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19	c.(3955-3957)AAC>GAC			Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF561,SMART_domains:SM00042,Superfamily_domains:SSF49854	cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)			ENSP00000367064		27/67									COSM3397026	27/67	.		ENST00000377833	Transcript	1		cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	ENSG00000107611	g.chr10:17083094T>C	2548			MODERATE		2.32	medium	getma.org/?cm=msa&ty=f&p=CUBN_HUMAN&rb=1278&re=1386&var=N1319D	getma.org/pdb.php?prot=CUBN_HUMAN&from=1278&to=1386&var=N1319D	getma.org/?cm=var&var=hg19,10,17083094,T,C&fts=all	N1319D	--	--	1																																			1	1		probably_damaging(0.947)	p.N1319D	NM_001081	NP_001072		deleterious(0.04)	1	CUBN_HUMAN	CUBN	HGNC	O60494	CUBN_HUMAN			B3KQA6_HUMAN		27	4007	-			UPI00001AE8F4	1319			CUB 8.		SNV	CUBN,missense_variant,p.Asn1319Asp,ENST00000377833,NM_001081.3;	uc001ioo.2	c.3955A>G	4021/11949	4	4			c.3955A>G						10	SNP	c.(3955-3957)AAC>GAC	48	48			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19	Broad	cubilin precursor		Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	17083094		0.383	ENSG00000107611	3978	g.chr10:17083094T>C	cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			2704			2704	-34.293495	KEEP	5	4	-1	109	130	5	4	-1	16.461186	109	130	0.036697	1	0	0	0	0	1	0	0	0	--	--		0	C				82	GBM-06-2558-TP	p.N1319D	T	AATGTGTAGTTCACAGTGTTG	NM_001081	NP_001072	17083094	O60494	CUBN_HUMAN	0			27	4007	-	C	C			Missense_Mutation	1319			CUB 8.			
CUBN	0	broad.mit.edu	GRCh37	10	16994307	16994307	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-14-1395-01	TCGA-14-1395-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377833.4:c.4937delA	p.Asn1646ThrfsTer12	p.N1646Tfs*12	ENST00000377833	NM_001081.3	1646	aAc/ac	0			1			-	N/X	uc001ioo.2	protein_coding	YES	CCDS7113.1			4937/10872									ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19	c.(4936-4938)AACfs			Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF561,SMART_domains:SM00042,Superfamily_domains:SSF49854	cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)			ENSP00000367064		33/67										33/67	.		ENST00000377833	Transcript	1		cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	ENSG00000107611	g.chr10:16994307delT	2548			HIGH								--	--	1																																				1			p.N1646fs	NM_001081	NP_001072				CUBN_HUMAN	CUBN	HGNC	O60494	CUBN_HUMAN			B3KQA6_HUMAN		33	4989	-			UPI00001AE8F4	1646			CUB 11.		deletion	CUBN,frameshift_variant,p.Asn1646ThrfsTer12,ENST00000377833,NM_001081.3;	uc001ioo.2	c.4937delA	5003/11949	5	5			c.4937delA						10	DEL	c.(4936-4938)AACfs	13	13			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19	Broad	cubilin precursor		Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	16994307		0.478	ENSG00000107611	3978	g.chr10:16994307delT	cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			2704			2704														0.89	1	1	0	1	0	0	0	0	0	--	--		0	-				144	GBM-14-1395-TP	p.N1646fs	T	CCAGCTGCAGTTCTGATTGTT	NM_001081	NP_001072	16994307	O60494	CUBN_HUMAN	0			33	4989	-	-	-			Frame_Shift_Del	1646			CUB 11.			
CUBN	0	broad.mit.edu	GRCh37	10	16873370	16873370	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-6450-01	TCGA-28-6450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377833.4:c.10409G>A	p.Cys3470Tyr	p.C3470Y	ENST00000377833	NM_001081.3	3470	tGt/tAt	0			1			T	C/Y	uc001ioo.2	protein_coding	YES	CCDS7113.1			10409/10872									ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19	c.(10408-10410)TGT>TAT			Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854	cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)			ENSP00000367064		65/67									COSM3397025	65/67	.		ENST00000377833	Transcript	1		cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	ENSG00000107611	g.chr10:16873370C>T	2548			MODERATE		3.375	medium	getma.org/?cm=msa&ty=f&p=CUBN_HUMAN&rb=3395&re=3504&var=C3470Y	getma.org/pdb.php?prot=CUBN_HUMAN&from=3395&to=3504&var=C3470Y	getma.org/?cm=var&var=hg19,10,16873370,C,T&fts=all	C3470Y	--	--	1																																			1	1		probably_damaging(1)	p.C3470Y	NM_001081	NP_001072		deleterious(0)	1	CUBN_HUMAN	CUBN	HGNC	O60494	CUBN_HUMAN			B3KQA6_HUMAN		65	10461	-			UPI00001AE8F4	3470			CUB 26.		SNV	CUBN,missense_variant,p.Cys3470Tyr,ENST00000377833,NM_001081.3;	uc001ioo.2	c.10409G>A	10475/11949	2	2			c.10409G>A						10	SNP	c.(10408-10410)TGT>TAT	47	47			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19	Broad	cubilin precursor		Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	16873370		0.368	ENSG00000107611	3978	g.chr10:16873370C>T	cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			2704			2704	98.097082	KEEP	21	15	-1	11	25	21	15	-1	98.097082	11	25	0.5	1	0	0	0	0	1	0	0	0	--	--		0	T				227	GBM-28-6450-TP	p.C3470Y	C	CAGAGTTCCACAGTACTTGCC	NM_001081	NP_001072	16873370	O60494	CUBN_HUMAN	0			65	10461	-	T	T			Missense_Mutation	3470			CUB 26.			
CUBN	0	broad.mit.edu	GRCh37	10	16870839	16870839	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs139051724		TCGA-32-1986-01	TCGA-32-1986-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377833.4:c.10729G>A	p.Ala3577Thr	p.A3577T	ENST00000377833	NM_001081.3	3577	Gcc/Acc	0	T:0	T:0	1	T:0.0014		T	A/T	uc001ioo.2	protein_coding	YES	CCDS7113.1			10729/10872									ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19	c.(10729-10731)GCC>ACC			Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854	cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	T:0.003	T:0.0002	ENSP00000367064	T:0	66/67	0.000247		0.000259	0.00254		5.99E-05		6.06E-05	rs139051724,COSM3397024	66/67	common_variant		ENST00000377833	Transcript	1	T:0.0008	cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	ENSG00000107611	g.chr10:16870839C>T	2548			MODERATE		0.54	neutral	getma.org/?cm=msa&ty=f&p=CUBN_HUMAN&rb=3511&re=3621&var=A3577T	getma.org/pdb.php?prot=CUBN_HUMAN&from=3511&to=3621&var=A3577T	getma.org/?cm=var&var=hg19,10,16870839,C,T&fts=all	A3577T	--	--	1																																OREG0020047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		0,1	1		benign(0.411)	p.A3577T	NM_001081	NP_001072	T:0	tolerated(0.19)	0,1	CUBN_HUMAN	CUBN	HGNC	O60494	CUBN_HUMAN			B3KQA6_HUMAN		66	10781	-			UPI00001AE8F4	3577			CUB 27.		SNV	CUBN,missense_variant,p.Ala3577Thr,ENST00000377833,NM_001081.3;	uc001ioo.2	c.10729G>A	10795/11949	2	2			c.10729G>A						10	SNP	c.(10729-10731)GCC>ACC	34	34			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19	Broad	cubilin precursor		Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	16870839		0.443	ENSG00000107611	3978	g.chr10:16870839C>T	cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity		p.A3577T(HEC59-Tumor)	2704		p.A3577T(HEC59-Tumor)	2704	133.246133	KEEP	26	31	-1	25	30	26	31	-1	133.266112	25	30	0.484211	1	0	0	0	0	1	0	0	0	--	--		0	T	OREG0020047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		233	GBM-32-1986-TP	p.A3577T	C	GGAGAGCTGGCGTTGGGCCCA	NM_001081	NP_001072	16870839	O60494	CUBN_HUMAN	0			66	10781	-	T	T			Missense_Mutation	3577			CUB 27.			
CUL1	8454	broad.mit.edu	GRCh37	7	148457457	148457457	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325222.4:c.658G>A	p.Ala220Thr	p.A220T	ENST00000325222	NM_003592.2	220	Gca/Aca	0			1			A	A/T	uc010lpg.2	protein_coding	YES	CCDS34772.1			658/2331									lung(1)	1	c.(658-660)GCA>ACA			hmmpanther:PTHR11932,hmmpanther:PTHR11932:SF19,Gene3D:1.20.1310.10,Pfam_domain:PF00888,Superfamily_domains:SSF74788	cullin 1				ENSP00000326804		22-Jul									COSM2150430	22-Jul	.		ENST00000325222	Transcript			anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	ENSG00000055130	g.chr7:148457457G>A	2551			MODERATE		1.01	low	getma.org/?cm=msa&ty=f&p=CUL1_HUMAN&rb=21&re=706&var=A220T	getma.org/pdb.php?prot=CUL1_HUMAN&from=21&to=706&var=A220T	getma.org/?cm=var&var=hg19,7,148457457,G,A&fts=all	A220T	--	--	1																																		CUL1_uc003wey.2_Missense_Mutation_p.A220T|CUL1_uc003wez.2_Missense_Mutation_p.A110T	1	1		benign(0.013)	p.A220T	NM_003592	NP_003583		tolerated(0.38)	1	CUL1_HUMAN	CUL1	HGNC	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		Q75MQ1_HUMAN,B3KU45_HUMAN,B3KTW0_HUMAN		7	1184	+	Melanoma(164;0.15)		UPI00001286E6	220					SNV	CUL1,missense_variant,p.Ala220Thr,ENST00000325222,NM_003592.2;CUL1,missense_variant,p.Ala220Thr,ENST00000602748,;CUL1,missense_variant,p.Ala220Thr,ENST00000409469,;	uc010lpg.2	c.658G>A	937/3064	1	1			c.658G>A						7	SNP	c.(658-660)GCA>ACA	59	59			lung(1)	1	Broad	cullin 1			148457457		0.338	ENSG00000055130	3981	g.chr7:148457457G>A	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding							227.592788	KEEP	52	49	-1	128	106	52	49	-1	237.968479	128	106	0.3	1	0	0	0	0	1	0	0	0	--	--		0	A			CUL1_uc003wey.2_Missense_Mutation_p.A220T|CUL1_uc003wez.2_Missense_Mutation_p.A110T	39	GBM-06-0184-TP	p.A220T	G	TGATGCATTTGCAAAGGGCCC	NM_003592	NP_003583	148457457	Q13616	CUL1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		7	1184	+	A	A	Melanoma(164;0.15)		Missense_Mutation	220						
CUL1	0	broad.mit.edu	GRCh37	7	148495685	148495685	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-76-6191-01	TCGA-76-6191-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325222.4:c.2052delC	p.Asn685MetfsTer4	p.N685Mfs*4	ENST00000325222	NM_003592.2	684	atC/at	0			1			-	I/X	uc010lpg.2	protein_coding	YES	CCDS34772.1			2052/2331									lung(1)	1	c.(2050-2052)ATCfs			hmmpanther:PTHR11932,hmmpanther:PTHR11932:SF19,Gene3D:1.10.10.10,Superfamily_domains:SSF75632	cullin 1				ENSP00000326804		20/22										20/22	.		ENST00000325222	Transcript			anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	ENSG00000055130	g.chr7:148495685delC	2551			HIGH								--	--	1																																		CUL1_uc003wey.2_Frame_Shift_Del_p.I684fs|CUL1_uc003wez.2_Frame_Shift_Del_p.I574fs|CUL1_uc003wfa.2_Frame_Shift_Del_p.I345fs		1			p.I684fs	NM_003592	NP_003583				CUL1_HUMAN	CUL1	HGNC	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		Q75MQ1_HUMAN,B3KU45_HUMAN,B3KTW0_HUMAN		20	2578	+	Melanoma(164;0.15)		UPI00001286E6	684					deletion	CUL1,frameshift_variant,p.Asn685MetfsTer4,ENST00000325222,NM_003592.2;CUL1,frameshift_variant,p.Asn685MetfsTer4,ENST00000602748,;CUL1,frameshift_variant,p.Asn685MetfsTer4,ENST00000409469,;	uc010lpg.2	c.2052delC	2331/3064	5	5			c.2052delC						7	DEL	c.(2050-2052)ATCfs	11	11			lung(1)	1	Broad	cullin 1			148495685		0.373	ENSG00000055130	3981	g.chr7:148495685delC	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding																				0.27	1	1	0	1	0	0	0	0	0	--	--		0	-			CUL1_uc003wey.2_Frame_Shift_Del_p.I684fs|CUL1_uc003wez.2_Frame_Shift_Del_p.I574fs|CUL1_uc003wfa.2_Frame_Shift_Del_p.I345fs	274	GBM-76-6191-TP	p.I684fs	C	GGGTTAACATCAATGTGCCAA	NM_003592	NP_003583	148495685	Q13616	CUL1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		20	2578	+	-	-	Melanoma(164;0.15)		Frame_Shift_Del	684						
CUL2	0	broad.mit.edu	GRCh37	10	35299303	35299303	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-32-1982-01	TCGA-32-1982-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374748.1:c.2174T>A	p.Leu725Gln	p.L725Q	ENST00000374748		725	cTg/cAg	0			1			T	L/Q	uc001ixv.2	protein_coding		CCDS7179.1			2174/2238									ovary(3)	3	c.(2173-2175)CTG>CAG			hmmpanther:PTHR11932:SF23,hmmpanther:PTHR11932,PROSITE_patterns:PS01256,Pfam_domain:PF10557,Gene3D:1.10.10.10,SMART_domains:SM00884,Superfamily_domains:SSF46785	cullin 2				ENSP00000363880		22/22									COSM3397104	22/22	.		ENST00000374748	Transcript			cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	ENSG00000108094	g.chr10:35299303A>T	2552			MODERATE		4.26	high	getma.org/?cm=msa&ty=f&p=CUL2_HUMAN&rb=672&re=739&var=L725Q	getma.org/pdb.php?prot=CUL2_HUMAN&from=672&to=739&var=L725Q	getma.org/?cm=var&var=hg19,10,35299303,A,T&fts=all	L725Q	--	--	1																																		CUL2_uc009xma.2_Missense_Mutation_p.L594Q|CUL2_uc010qer.1_Missense_Mutation_p.L744Q|CUL2_uc001ixw.2_Missense_Mutation_p.L725Q	1			probably_damaging(1)	p.L725Q	NM_003591	NP_003582		deleterious(0)	1	CUL2_HUMAN	CUL2	HGNC	Q13617	CUL2_HUMAN			Q5T2B4_HUMAN		21	2384	-			UPI0000000DC6	725					SNV	CUL2,missense_variant,p.Leu725Gln,ENST00000374748,;CUL2,missense_variant,p.Leu725Gln,ENST00000374751,NM_001198777.1;CUL2,missense_variant,p.Leu725Gln,ENST00000374749,NM_003591.3;CUL2,missense_variant,p.Leu686Gln,ENST00000374746,;CUL2,missense_variant,p.Leu668Gln,ENST00000602371,;CUL2,missense_variant,p.Leu686Gln,ENST00000374742,;CUL2,missense_variant,p.Leu744Gln,ENST00000537177,NM_001198779.1,NM_001198778.1;CUL2,3_prime_UTR_variant,,ENST00000374754,;	uc001ixv.2	c.2174T>A	2488/4312	1	1			c.2174T>A						10	SNP	c.(2173-2175)CTG>CAG	4	4			ovary(3)	3	Broad	cullin 2			35299303		0.463	ENSG00000108094	3982	g.chr10:35299303A>T	cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding							115.157366	KEEP	17	19	-1	21	14	17	19	-1	115.212134	21	14	0.53125	1	0	0	0	0	1	0	0	0	--	--		0	T			CUL2_uc009xma.2_Missense_Mutation_p.L594Q|CUL2_uc010qer.1_Missense_Mutation_p.L744Q|CUL2_uc001ixw.2_Missense_Mutation_p.L725Q	232	GBM-32-1982-TP	p.L725Q	A	TTTGTCTATCAGAACTTCAAT	NM_003591	NP_003582	35299303	Q13617	CUL2_HUMAN	0			21	2384	-	T	T			Missense_Mutation	725						
CUL9	0	broad.mit.edu	GRCh37	6	43163923	43163923	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-12-0618-01	TCGA-12-0618-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252050.4:c.2505C>A	p.Ile835=	p.I835=	ENST00000252050	NM_015089.2	835	atC/atA	0			1			A	I	uc003ouk.2	protein_coding	YES	CCDS4890.1			2505/7554									ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12	c.(2503-2505)ATC>ATA			hmmpanther:PTHR22771:SF2,hmmpanther:PTHR22771	p53-associated parkin-like cytoplasmic protein				ENSP00000252050		Oct-41									COSM3411111	Oct-41	.		ENST00000252050	Transcript			ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	ENSG00000112659	g.chr6:43163923C>A	15982			LOW								--	--	1																																		CUL9_uc003oul.2_Silent_p.I835I|CUL9_uc010jyk.2_5'UTR	1	1			p.I835I	NM_015089	NP_055904			1	CUL9_HUMAN	CUL9	HGNC	Q8IWT3	CUL9_HUMAN					10	2580	+			UPI000006F22F	835					SNV	CUL9,synonymous_variant,p.=,ENST00000252050,NM_015089.2;CUL9,synonymous_variant,p.=,ENST00000372647,;CUL9,synonymous_variant,p.=,ENST00000354495,;CUL9,non_coding_transcript_exon_variant,,ENST00000515773,;	uc003ouk.2	c.2505C>A	2589/7780	2	2			c.2505C>A						6	SNP	c.(2503-2505)ATC>ATA	45	45			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12	Broad	p53-associated parkin-like cytoplasmic protein			43163923		0.567	ENSG00000112659	3988	g.chr6:43163923C>A	ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding							-27.926591	KEEP	2	2	0.5	81	103	2	2	0.5	6.915301	81	103	0.028169	1	0	0	0	0	0	0	1	0	--	--		0	A			CUL9_uc003oul.2_Silent_p.I835I|CUL9_uc010jyk.2_5'UTR	119	GBM-12-0618-TP	p.I835I	C	TCGCCAGCATCGACTCAGCCA	NM_015089	NP_055904	43163923	Q8IWT3	CUL9_HUMAN	0			10	2580	+	A	A			Silent	835						
CUL9	0	broad.mit.edu	GRCh37	6	43164484	43164484	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs142672693	byFrequency	TCGA-27-1838-01	TCGA-27-1838-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252050.4:c.2687C>A	p.Thr896Lys	p.T896K	ENST00000252050	NM_015089.2	896	aCg/aAg	0			1			A	T/K	uc003ouk.2	protein_coding	YES	CCDS4890.1			2687/7554									ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12	c.(2686-2688)ACG>AAG			hmmpanther:PTHR22771:SF2,hmmpanther:PTHR22771	p53-associated parkin-like cytoplasmic protein				ENSP00000252050		Nov-41									COSM3411112	Nov-41	.		ENST00000252050	Transcript			ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	ENSG00000112659	g.chr6:43164484C>A	15982			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=CUL9_HUMAN&rb=842&re=1041&var=T896K	NA	getma.org/?cm=var&var=hg19,6,43164484,C,A&fts=all	T896K	--	--	1																																		CUL9_uc003oul.2_Missense_Mutation_p.T896K|CUL9_uc010jyk.2_Missense_Mutation_p.T48K	1	1		possibly_damaging(0.875)	p.T896K	NM_015089	NP_055904		deleterious(0.01)	1	CUL9_HUMAN	CUL9	HGNC	Q8IWT3	CUL9_HUMAN					11	2762	+			UPI000006F22F	896					SNV	CUL9,missense_variant,p.Thr896Lys,ENST00000252050,NM_015089.2;CUL9,missense_variant,p.Thr896Lys,ENST00000372647,;CUL9,missense_variant,p.Thr786Lys,ENST00000354495,;CUL9,non_coding_transcript_exon_variant,,ENST00000515773,;	uc003ouk.2	c.2687C>A	2771/7780	1	1			c.2687C>A						6	SNP	c.(2686-2688)ACG>AAG	53	53			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12	Broad	p53-associated parkin-like cytoplasmic protein			43164484		0.517	ENSG00000112659	3988	g.chr6:43164484C>A	ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding							218.518383	KEEP	22	49	0.690140845	67	78	22	49	0.690140845	223.60452	67	78	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	A			CUL9_uc003oul.2_Missense_Mutation_p.T896K|CUL9_uc010jyk.2_Missense_Mutation_p.T48K	197	GBM-27-1838-TP	p.T896K	C	CTGAGAGACACGTTGTTTAGG	NM_015089	NP_055904	43164484	Q8IWT3	CUL9_HUMAN	0			11	2762	+	A	A			Missense_Mutation	896						
CUL9	23113		GRCh37	6	43160945	43160945	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000252050.4:c.2387C>T	p.Ala796Val	p.A796V	ENST00000252050	NM_015089.2	796	gCg/gTg	0																																																																																																																																																																																																																																												
CUX1	1523	broad.mit.edu	GRCh37	7	101847816	101847816	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0189-01	TCGA-06-0189-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360264.3:c.3086A>G	p.Gln1029Arg	p.Q1029R	ENST00000360264	NM_001202543.1	1029	cAg/cGg	0			1			G	Q/R	uc003uyx.3	protein_coding		CCDS5721.1			3053/4518									ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8	c.(3052-3054)CAG>CGG			Low_complexity_(Seg):seg,PROSITE_profiles:PS51042,hmmpanther:PTHR14043,hmmpanther:PTHR14043:SF4,Superfamily_domains:SSF47413	cut-like homeobox 1 isoform a				ENSP00000292535		19/24										19/24	.		ENST00000292535	Transcript			negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000257923	g.chr7:101847816A>G	2557			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CUX1_HUMAN&rb=935&re=1021&var=Q1018R	getma.org/pdb.php?prot=CUX1_HUMAN&from=935&to=1021&var=Q1018R	getma.org/?cm=var&var=hg19,7,101847816,A,G&fts=all	Q1018R	--	--	1																																		CUX1_uc003uys.3_Missense_Mutation_p.Q1029R|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron				unknown(0)	p.Q1018R	NM_181552	NP_853530		tolerated(0.06)		CUX1_HUMAN	CUX1	HGNC	P39880	CUX1_HUMAN					19	3091	+			UPI0000246CDF	1018			CUT 2.		SNV	CUX1,missense_variant,p.Gln1029Arg,ENST00000360264,NM_001202543.1;CUX1,missense_variant,p.Gln1018Arg,ENST00000292535,NM_181552.3;CUX1,missense_variant,p.Gln996Arg,ENST00000549414,;CUX1,missense_variant,p.Gln962Arg,ENST00000550008,;CUX1,missense_variant,p.Gln916Arg,ENST00000546411,;CUX1,missense_variant,p.Gln860Arg,ENST00000556210,;CUX1,intron_variant,,ENST00000437600,NM_181500.2;CUX1,intron_variant,,ENST00000292538,NM_001913.3;CUX1,intron_variant,,ENST00000547394,NM_001202544.1;CUX1,intron_variant,,ENST00000425244,NM_001202545.1;CUX1,intron_variant,,ENST00000393824,NM_001202546.1;CUX1,intron_variant,,ENST00000560541,;CUX1,intron_variant,,ENST00000558836,;	uc003uyx.3	c.3053A>G	3091/13747	4	4			c.3053A>G						7	SNP	c.(3052-3054)CAG>CGG	24	24			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8	Broad	cut-like homeobox 1 isoform a			101847816		0.647	ENSG00000257923	3991	g.chr7:101847816A>G	negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							-3.521684	KEEP	6	5	-1	80	61	6	5	-1	20.59419	80	61	0.070866	1	0	0	0	0	1	0	0	0	--	--		0	G			CUX1_uc003uys.3_Missense_Mutation_p.Q1029R|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	42	GBM-06-0189-TP	p.Q1018R	A	CTACCCGTCCAGGGCCAGCAG	NM_181552	NP_853530	101847816	P39880	CUX1_HUMAN	0			19	3091	+	G	G			Missense_Mutation	1018			CUT 2.			
CUX2	23316	broad.mit.edu	GRCh37	12	111748245	111748245	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0743-01	TCGA-06-0743-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261726.6:c.1659G>A	p.Leu553=	p.L553=	ENST00000261726	NM_015267.3	553	ctG/ctA	0			1			A	L	uc001tsa.1	protein_coding	YES	CCDS41837.1			1659/4461									ovary(3)|skin(2)|breast(1)	6	c.(1657-1659)CTG>CTA			Gene3D:1.10.260.40,Pfam_domain:PF02376,PROSITE_profiles:PS51042,hmmpanther:PTHR14043,hmmpanther:PTHR14043:SF5,Superfamily_domains:SSF47413	cut-like 2				ENSP00000261726		15/22									COSM3398352	15/22	.		ENST00000261726	Transcript				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000111249	g.chr12:111748245G>A	19347			LOW								--	--	1																																			1	1			p.L553L	NM_015267	NP_056082			1	CUX2_HUMAN	CUX2	HGNC	O14529	CUX2_HUMAN			Q9BZX3_HUMAN,Q9BZV4_HUMAN		15	1812	+			UPI00001FBB07	553			CUT 1.		SNV	CUX2,synonymous_variant,p.=,ENST00000261726,NM_015267.3;	uc001tsa.1	c.1659G>A	1813/6844	2	2			c.1659G>A						12	SNP	c.(1657-1659)CTG>CTA	24	24			ovary(3)|skin(2)|breast(1)	6	Broad	cut-like 2			111748245		0.701	ENSG00000111249	3992	g.chr12:111748245G>A		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							67.885732	KEEP	10	16	-1	19	21	10	16	-1	68.263051	19	21	0.413793	1	0	0	0	0	0	0	1	0	--	--		0	A				65	GBM-06-0743-TP	p.L553L	G	AGGAGCAGCTGGACACGGCAG	NM_015267	NP_056082	111748245	O14529	CUX2_HUMAN	0			15	1812	+	A	A			Silent	553			CUT 1.			
CUX2	0	broad.mit.edu	GRCh37	12	111742051	111742051	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-6450-01	TCGA-28-6450-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261726.6:c.791G>A	p.Arg264Gln	p.R264Q	ENST00000261726	NM_015267.3	264	cGg/cAg	0			1			A	R/Q	uc001tsa.1	protein_coding	YES	CCDS41837.1			791/4461									ovary(3)|skin(2)|breast(1)	6	c.(790-792)CGG>CAG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14043,hmmpanther:PTHR14043:SF5	cut-like 2				ENSP00000261726		22-Oct	1.65E-05					3.20E-05			rs780487031,COSM3398350	22-Oct	.		ENST00000261726	Transcript				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000111249	g.chr12:111742051G>A	19347			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=CUX2_HUMAN&rb=1&re=537&var=R264Q	NA	getma.org/?cm=var&var=hg19,12,111742051,G,A&fts=all	R264Q	--	--	1																																			0,1	1		possibly_damaging(0.866)	p.R264Q	NM_015267	NP_056082		deleterious(0.02)	0,1	CUX2_HUMAN	CUX2	HGNC	O14529	CUX2_HUMAN			Q9BZX3_HUMAN,Q9BZV4_HUMAN		10	944	+			UPI00001FBB07	264			Potential.		SNV	CUX2,missense_variant,p.Arg264Gln,ENST00000261726,NM_015267.3;AC002979.1,downstream_gene_variant,,ENST00000408459,;	uc001tsa.1	c.791G>A	945/6844	1	1			c.791G>A						12	SNP	c.(790-792)CGG>CAG	49	49			ovary(3)|skin(2)|breast(1)	6	Broad	cut-like 2			111742051		0.652	ENSG00000111249	3992	g.chr12:111742051G>A		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							17.744246	KEEP	2	5	-1	5	3	2	5	-1	17.761316	5	3	0.461538	1	0	0	0	0	1	0	0	0	--	--		0	A				227	GBM-28-6450-TP	p.R264Q	G	GAAAGTCTCCGGGAACAGCTG	NM_015267	NP_056082	111742051	O14529	CUX2_HUMAN	0			10	944	+	A	A			Missense_Mutation	264			Potential.			
CUX2	0	broad.mit.edu	GRCh37	12	111772341	111772341	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-87-5896-01	TCGA-87-5896-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261726.6:c.3023G>A	p.Ser1008Asn	p.S1008N	ENST00000261726	NM_015267.3	1008	aGc/aAc	0			1			A	S/N	uc001tsa.1	protein_coding	YES	CCDS41837.1			3023/4461									ovary(3)|skin(2)|breast(1)	6	c.(3022-3024)AGC>AAC			hmmpanther:PTHR14043,hmmpanther:PTHR14043:SF5,Low_complexity_(Seg):seg	cut-like 2				ENSP00000261726		19/22									COSM3398353	19/22	.		ENST00000261726	Transcript				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000111249	g.chr12:111772341G>A	19347			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=CUX2_HUMAN&rb=971&re=1038&var=S1008N	NA	getma.org/?cm=var&var=hg19,12,111772341,G,A&fts=all	S1008N	--	--	1																																			1	1		possibly_damaging(0.451)	p.S1008N	NM_015267	NP_056082		deleterious(0.02)	1	CUX2_HUMAN	CUX2	HGNC	O14529	CUX2_HUMAN			Q9BZX3_HUMAN,Q9BZV4_HUMAN		19	3176	+			UPI00001FBB07	1008					SNV	CUX2,missense_variant,p.Ser1008Asn,ENST00000261726,NM_015267.3;RNA5SP373,upstream_gene_variant,,ENST00000517271,;	uc001tsa.1	c.3023G>A	3177/6844	2	2			c.3023G>A						12	SNP	c.(3022-3024)AGC>AAC	46	46			ovary(3)|skin(2)|breast(1)	6	Broad	cut-like 2			111772341		0.647	ENSG00000111249	3992	g.chr12:111772341G>A		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							45.495776	KEEP	6	12	-1	16	19	6	12	-1	46.658468	16	19	0.34	1	0	0	0	0	1	0	0	0	--	--		0	A				291	GBM-87-5896-TP	p.S1008N	G	TCCCTGGAGAGCAGCAAGGAG	NM_015267	NP_056082	111772341	O14529	CUX2_HUMAN	0			19	3176	+	A	A			Missense_Mutation	1008						
CUX2	23316		GRCh37	12	111785603	111785603	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000261726.6:c.3935G>A	p.Gly1312Asp	p.G1312D	ENST00000261726	NM_015267.3	1312	gGc/gAc	0																																																																																																																																																																																																																																												
CUX2	23316		GRCh37	12	111748209	111748209	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-2510-01	TCGA-28-2510-01																				ENST00000261726.6:c.1623C>T	p.Gly541=	p.G541=	ENST00000261726	NM_015267.3	541	ggC/ggT	0																																																																																																																																																																																																																																												
CWF19L2	0	broad.mit.edu	GRCh37	11	107200691	107200691	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01	TCGA-32-1970-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282251.5:c.2494G>A	p.Ala832Thr	p.A832T	ENST00000282251	NM_152434.2	832	Gcc/Acc	0			1			T	A/T	uc010rvp.1	protein_coding	YES	CCDS8336.2			2494/2685										0	c.(2494-2496)GCC>ACC			hmmpanther:PTHR12072:SF5,hmmpanther:PTHR12072,Pfam_domain:PF04676	CWF19-like 2, cell cycle control				ENSP00000282251		17/18									COSM3397379,COSM3397378	17/18	.		ENST00000282251	Transcript					catalytic activity	ENSG00000152404	g.chr11:107200691C>T	26508			MODERATE		2.86	medium	getma.org/?cm=msa&ty=f&p=C19L2_HUMAN&rb=795&re=889&var=A832T	NA	getma.org/?cm=var&var=hg19,11,107200691,C,T&fts=all	A832T	--	--	1																																		CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	1,1	1		probably_damaging(0.998)	p.A832T	NM_152434	NP_689647		deleterious(0)	1,1	C19L2_HUMAN	CWF19L2	HGNC	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	Q6PIV4_HUMAN		17	2524	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	UPI00005A81B4	832					SNV	CWF19L2,missense_variant,p.Ala832Thr,ENST00000282251,NM_152434.2;CWF19L2,3_prime_UTR_variant,,ENST00000431778,;CWF19L2,3_prime_UTR_variant,,ENST00000532251,;	uc010rvp.1	c.2494G>A	2522/3278	1	1			c.2494G>A						11	SNP	c.(2494-2496)GCC>ACC	11	11				0	Broad	CWF19-like 2, cell cycle control			107200691		0.383	ENSG00000152404	3999	g.chr11:107200691C>T			catalytic activity							19.01967	KEEP	5	3	-1	2	10	5	3	-1	19.214735	2	10	0.388889	1	0	0	0	0	1	0	0	0	--	--		0	T			CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	228	GBM-32-1970-TP	p.A832T	C	ATGACATGGGCAAACCCTCCG	NM_152434	NP_689647	107200691	Q2TBE0	C19L2_HUMAN	0		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	17	2524	-	T	T		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	Missense_Mutation	832						
CWF19L2	143884		GRCh37	11	107224390	107224390	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000282251.5:c.1945C>T	p.Arg649Cys	p.R649C	ENST00000282251	NM_152434.2	649	Cgt/Tgt	0																																																																																																																																																																																																																																												
CX3CL1	6376	broad.mit.edu	GRCh37	16	57416501	57416501	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01	TCGA-06-0213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000006053.6:c.751G>A	p.Gly251Arg	p.G251R	ENST00000006053	NM_002996.3	251	Gga/Aga	0			1			A	G/R	uc002eli.2	protein_coding	YES	CCDS10779.1			751/1194										0	c.(751-753)GGA>AGA				chemokine (C-X3-C motif) ligand 1 precursor				ENSP00000006053		3-Mar	8.24E-06							6.08E-05	rs777198174,COSM3402383	3-Mar	.		ENST00000006053	Transcript			cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity	ENSG00000006210	g.chr16:57416501G>A	10647			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=X3CL1_HUMAN&rb=101&re=395&var=G251R	NA	getma.org/?cm=var&var=hg19,16,57416501,G,A&fts=all	G251R	--	--	1																																			0,1	1		benign(0.226)	p.G251R	NM_002996	NP_002987		deleterious(0.03)	0,1	X3CL1_HUMAN	CX3CL1	HGNC	P78423	X3CL1_HUMAN			J3QRA1_HUMAN,A0N0N7_HUMAN		3	818	+			UPI0000040685	251			Mucin-like stalk.|Extracellular (Potential).		SNV	CX3CL1,missense_variant,p.Gly213Arg,ENST00000565912,;CX3CL1,missense_variant,p.Gly251Arg,ENST00000006053,NM_002996.3;CX3CL1,missense_variant,p.Gly257Arg,ENST00000563383,;CX3CL1,downstream_gene_variant,,ENST00000564948,;	uc002eli.2	c.751G>A	862/3321	2	2			c.751G>A						16	SNP	c.(751-753)GGA>AGA	24	24				0	Broad	chemokine (C-X3-C motif) ligand 1 precursor			57416501		0.692	ENSG00000006210	4001	g.chr16:57416501G>A	cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity							18.671395	KEEP	3	9	-1	40	38	3	9	-1	29.076601	40	38	0.135802	1	0	0	0	0	1	0	0	0	--	--		0	A				49	GBM-06-0213-TP	p.G251R	G	GTGGGGTCAGGGACAGAGCCC	NM_002996	NP_002987	57416501	P78423	X3CL1_HUMAN	0			3	818	+	A	A			Missense_Mutation	251			Mucin-like stalk.|Extracellular (Potential).			
CX3CR1	1524	broad.mit.edu	GRCh37	3	39307436	39307436	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0130-01	TCGA-06-0130-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358309.3:c.661G>A	p.Val221Met	p.V221M	ENST00000358309	NM_001171174.1	221	Gtg/Atg	0			1			T	V/M	uc003cjl.2	protein_coding		CCDS43069.1			565/1068									lung(3)	3	c.(565-567)GTG>ATG			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR01562,PROSITE_profiles:PS50262,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF9,Superfamily_domains:SSF81321	chemokine (C-X3-C motif) receptor 1				ENSP00000382166		2-Feb	6.62E-05	0.000102	8.64E-05			8.99E-05			rs773508118,COSM2149553,COSM2149552	2-Feb	.		ENST00000399220	Transcript	1		cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	ENSG00000168329	g.chr3:39307436C>T	2558			MODERATE		1.69	low	getma.org/?cm=msa&ty=f&p=CX3C1_HUMAN&rb=48&re=293&var=V189M	getma.org/pdb.php?prot=CX3C1_HUMAN&from=48&to=293&var=V189M	getma.org/?cm=var&var=hg19,3,39307436,C,T&fts=all	V189M	--	--	1																																			0,1,1			probably_damaging(0.972)	p.V189M	NM_001337	NP_001328		deleterious(0.01)	0,1,1	CX3C1_HUMAN	CX3CR1	HGNC	P49238	CX3C1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)	C9JN40_HUMAN,C9JLM2_HUMAN		2	657	-			UPI0000000A0B	189			Extracellular (Potential).		SNV	CX3CR1,missense_variant,p.Val189Met,ENST00000541347,NM_001171171.1;CX3CR1,missense_variant,p.Val189Met,ENST00000542107,NM_001171172.1;CX3CR1,missense_variant,p.Val221Met,ENST00000358309,NM_001171174.1;CX3CR1,missense_variant,p.Val189Met,ENST00000399220,NM_001337.3;CX3CR1,downstream_gene_variant,,ENST00000435290,;CX3CR1,downstream_gene_variant,,ENST00000412814,;	uc003cjl.2	c.565G>A	655/3106	1	1			c.565G>A						3	SNP	c.(565-567)GTG>ATG	5	5			lung(3)	3	Broad	chemokine (C-X3-C motif) receptor 1			39307436		0.483	ENSG00000168329	4002	g.chr3:39307436C>T	cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity							92.170446	KEEP	20	23	-1	81	91	20	23	-1	108.115465	81	91	0.20603	1	0	0	0	0	1	0	0	0	--	--		0	T				16	GBM-06-0130-TP	p.V189M	C	TTGCGGAGCACGGGCCAGATT	NM_001337	NP_001328	39307436	P49238	CX3C1_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)	2	657	-	T	T			Missense_Mutation	189			Extracellular (Potential).			
CX3CR1	0	broad.mit.edu	GRCh37	3	39307959	39307959	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5952-01	TCGA-19-5952-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399220.2:c.42C>T	p.Tyr14=	p.Y14=	ENST00000399220	NM_001337.3	14	taC/taT	0		C:0	1	C:0		A	Y	uc003cjl.2	protein_coding		CCDS43069.1			42/1068									lung(3)	3	c.(40-42)TAC>TAT			Prints_domain:PR01562,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF9	chemokine (C-X3-C motif) receptor 1		C:0		ENSP00000382166	C:0	2-Feb	2.48E-05					4.50E-05			rs550232627,COSM2156706,COSM2156705	2-Feb	.		ENST00000399220	Transcript	1	C:0.0002	cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	ENSG00000168329	g.chr3:39307959G>A	2558			LOW								--	--	1																																			0,1,1				p.Y14Y	NM_001337	NP_001328	C:0.001		0,1,1	CX3C1_HUMAN	CX3CR1	HGNC	P49238	CX3C1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)	C9JN40_HUMAN,C9JLM2_HUMAN		2	134	-			UPI0000000A0B	14			Extracellular (Potential).		SNV	CX3CR1,synonymous_variant,p.=,ENST00000541347,NM_001171171.1;CX3CR1,synonymous_variant,p.=,ENST00000542107,NM_001171172.1;CX3CR1,synonymous_variant,p.=,ENST00000358309,NM_001171174.1;CX3CR1,synonymous_variant,p.=,ENST00000399220,NM_001337.3;CX3CR1,synonymous_variant,p.=,ENST00000435290,;CX3CR1,synonymous_variant,p.=,ENST00000412814,;	uc003cjl.2	c.42C>T	132/3106	1	1			c.42C>T						3	SNP	c.(40-42)TAC>TAT	63	63			lung(3)	3	Broad	chemokine (C-X3-C motif) receptor 1			39307959		0.443	ENSG00000168329	4002	g.chr3:39307959G>A	cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity							50.662904	KEEP	4	14	-1	13	19	4	14	-1	51.350765	13	19	0.369565	1	0	0	0	0	0	0	1	0	--	--		0	A				172	GBM-19-5952-TP	p.Y14Y	G	CCAAATCATCGTACTCAAAGT	NM_001337	NP_001328	39307959	P49238	CX3C1_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)	2	134	-	A	A			Silent	14			Extracellular (Potential).			
CXCL1	2919	broad.mit.edu	GRCh37	4	74735288	74735288	+	splice_donor_variant	Splice_Site	SNP	G	G	T			TCGA-06-6388-01	TCGA-06-6388-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395761.3:c.100+1G>T		p.X34_splice	ENST00000395761	NM_001511.3	34		0			1			T		uc003hhh.1	protein_coding	YES	CCDS47074.1			100/324										0	c.e1+1				chemokine (C-X-C motif) ligand 1				ENSP00000379110											COSM3409480		.		ENST00000395761	Transcript			actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development	extracellular space|intracellular	chemokine activity|enzyme activator activity|growth factor activity	ENSG00000163739	g.chr4:74735288G>T	4602			HIGH	3-Jan							--	--	1																																			1	1			p.G34_splice	NM_001511	NP_001502			1	GROA_HUMAN	CXCL1	HGNC	P09341	GROA_HUMAN	all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		Q6LD34_HUMAN		1	179	+	Breast(15;0.00102)		UPI0000047AA6						SNV	CXCL1,splice_donor_variant,,ENST00000395761,NM_001511.3;CXCL1,splice_donor_variant,,ENST00000509101,;	uc003hhh.1	c.100_splice	-/1097	5	2			c.100_splice						4	SNP	c.e1+1	45	45				0	Broad	chemokine (C-X-C motif) ligand 1			74735288		0.726	ENSG00000163739	4004	g.chr4:74735288G>T	actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development	extracellular space|intracellular	chemokine activity|enzyme activator activity|growth factor activity							30.620217	KEEP	9	3	0.75	6	4	9	3	0.75	30.663076	6	4	0.55	1	0	0	0	0	0	0	0	1	--	--		0	T				104	GBM-06-6388-TP	p.G34_splice	G	CGCGCAGCAGGTGGGTACCGG	NM_001511	NP_001502	74735288	P09341	GROA_HUMAN	0	all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		1	179	+	T	T	Breast(15;0.00102)		Splice_Site							
CXCL6	6372	broad.mit.edu	GRCh37	4	74702791	74702791	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs149811429		TCGA-06-0648-01	TCGA-06-0648-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000226317.5:c.220C>A	p.Gln74Lys	p.Q74K	ENST00000226317	NM_002993.3	74	Cag/Aag	0	A:0		1			A	Q/K	uc003hhf.2	protein_coding	YES	CCDS3560.1			220/345										0	c.(220-222)CAG>AAG			hmmpanther:PTHR10179,hmmpanther:PTHR10179:SF12,PROSITE_patterns:PS00471,Pfam_domain:PF00048,Gene3D:2.40.50.40,SMART_domains:SM00199,Superfamily_domains:SSF54117,Prints_domain:PR00437,Prints_domain:PR00436	chemokine (C-X-C motif) ligand 6 (granulocyte			A:0.0001	ENSP00000226317		4-Feb	1.65E-05					3.01E-05			rs149811429,COSM3409478	4-Feb	.		ENST00000226317	Transcript			cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding	ENSG00000124875	g.chr4:74702791C>A	10643			MODERATE		2.78	medium	getma.org/?cm=msa&ty=f&p=CXCL6_HUMAN&rb=42&re=107&var=Q74K	getma.org/pdb.php?prot=CXCL6_HUMAN&from=42&to=107&var=Q74K	getma.org/?cm=var&var=hg19,4,74702791,C,A&fts=all	Q74K	--	--	1																																		IL8_uc011cbh.1_Intron	0,1	1		possibly_damaging(0.46)	p.Q74K	NM_002993	NP_002984		tolerated(0.07)	0,1	CXCL6_HUMAN	CXCL6	HGNC	P80162	CXCL6_HUMAN	all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)				2	415	+	Breast(15;0.00102)		UPI0000136772	74					SNV	CXCL6,missense_variant,p.Gln74Lys,ENST00000226317,NM_002993.3;CXCL6,missense_variant,p.Gln74Lys,ENST00000515050,;CXCL6,upstream_gene_variant,,ENST00000503446,;	uc003hhf.2	c.220C>A	474/1718	1	1			c.220C>A						4	SNP	c.(220-222)CAG>AAG	64	64				0	Broad	chemokine (C-X-C motif) ligand 6 (granulocyte			74702791		0.542	ENSG00000124875	4015	g.chr4:74702791C>A	cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding							27.821183	KEEP	11	5	0.3125	58	50	11	5	0.3125	41.58936	58	50	0.142857	1	0	0	0	0	1	0	0	0	--	--		0	A			IL8_uc011cbh.1_Intron	61	GBM-06-0648-TP	p.Q74K	C	CGCAGGCCCGCAGTGCTCCAA	NM_002993	NP_002984	74702791	P80162	CXCL6_HUMAN	0	all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		2	415	+	A	A	Breast(15;0.00102)		Missense_Mutation	74						
CXCR1	3577	broad.mit.edu	GRCh37	2	219029097	219029097	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs61755739		TCGA-06-2558-01	TCGA-06-2558-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295683.2:c.838C>T	p.Arg280Cys	p.R280C	ENST00000295683	NM_000634.2	280	Cgc/Tgc	0		A:0	1	A:0		A	R/C	uc002vhc.2	protein_coding	YES	CCDS2409.1			838/1053									lung(2)	2	c.(838-840)CGC>TGC			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00427,PROSITE_profiles:PS50262,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF47,Superfamily_domains:SSF81321	interleukin 8 receptor alpha		A:0		ENSP00000295683	A:0.001	2-Feb	0.000198		0.000345		0.000302	0.000225		0.000182	rs61755739,COSM2152641	2-Feb	.		ENST00000295683	Transcript		A:0.0002	dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	ENSG00000163464	g.chr2:219029097G>A	6026			MODERATE		2.565	medium	getma.org/?cm=msa&ty=f&p=CXCR1_HUMAN&rb=56&re=305&var=R280C	getma.org/pdb.php?prot=CXCR1_HUMAN&from=56&to=305&var=R280C	getma.org/?cm=var&var=hg19,2,219029097,G,A&fts=all	R280C	--	--	1																																			0,1	1		probably_damaging(0.953)	p.R280C	NM_000634	NP_000625	A:0	deleterious(0)	0,1	CXCR1_HUMAN	CXCR1	HGNC	P25024	CXCR1_HUMAN					2	957	-			UPI0000050457	280			Extracellular (Potential).		SNV	CXCR1,missense_variant,p.Arg280Cys,ENST00000295683,NM_000634.2;	uc002vhc.2	c.838C>T	959/2488	1	1			c.838C>T						2	SNP	c.(838-840)CGC>TGC	54	54			lung(2)	2	Broad	interleukin 8 receptor alpha			219029097		0.572	ENSG00000163464	4017	g.chr2:219029097G>A	dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity		p.R280C(COLO829-Tumor)	31		p.R280C(COLO829-Tumor)	31	118.327318	KEEP	28	21	-1	42	50	28	21	-1	122.269283	42	50	0.315385	1	0	0	0	0	1	0	0	0	--	--		0	A				82	GBM-06-2558-TP	p.R280C	G	ATGTTGTTGCGGCGCTCACAG	NM_000634	NP_000625	219029097	P25024	CXCR1_HUMAN	0			2	957	-	A	A			Missense_Mutation	280			Extracellular (Potential).			
CXorf21	0	broad.mit.edu	GRCh37	X	30577750	30577750	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-5651-01	TCGA-41-5651-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378962.3:c.723G>A	p.Ala241=	p.A241=	ENST00000378962	NM_025159.2	241	gcG/gcA	0	T:0	T:0	1	T:0		T	A	uc004dcg.1	protein_coding	YES	CCDS14224.1			723/906									ovary(1)	1	c.(721-723)GCG>GCA			Pfam_domain:PF15133,hmmpanther:PTHR14889:SF1,hmmpanther:PTHR14889	hypothetical protein LOC80231		T:0.001	T:0.0003	ENSP00000368245	T:0	3-Mar	9.88E-05		0.000107	0.000151		0.000105			rs377147619,COSM3406281	3-Mar	.		ENST00000378962	Transcript		T:0.0003				ENSG00000120280	g.chrX:30577750C>T	25667			LOW								--	--	1																																			0,1	1			p.A241A	NM_025159	NP_079435	T:0		0,1	CX021_HUMAN	CXorf21	HGNC	Q9HAI6	CX021_HUMAN					3	999	-			UPI000006D5C7	241					SNV	CXorf21,synonymous_variant,p.=,ENST00000378962,NM_025159.2;	uc004dcg.1	c.723G>A	1046/1855	2	2			c.723G>A						23	SNP	c.(721-723)GCG>GCA	43	43			ovary(1)	1	Broad	hypothetical protein LOC80231			30577750		0.438	ENSG00000120280	4028	g.chrX:30577750C>T										103.329618	KEEP	23	18	-1	53	60	23	18	-1	110.543003	53	60	0.268456	1	0	0	0	0	0	0	1	0	--	--		0	T				258	GBM-41-5651-TP	p.A241A	C	TGAGTTCAGACGCCAGAATCT	NM_025159	NP_079435	30577750	Q9HAI6	CX021_HUMAN	0			3	999	-	T	T			Silent	241						
CXorf22	0	broad.mit.edu	GRCh37	X	35985840	35985840	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5417-01	TCGA-06-5417-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297866.5:c.1705C>T	p.Arg569Cys	p.R569C	ENST00000297866	NM_152632.3	569	Cgc/Tgc	0			1			T	R/C	uc004ddj.2	protein_coding	YES	CCDS14237.2			1705/2931									large_intestine(1)|lung(1)|ovary(1)	3	c.(1705-1707)CGC>TGC			hmmpanther:PTHR23053	hypothetical protein LOC170063				ENSP00000297866		16-Oct									COSM2153302,COSM2153301	16-Oct	.		ENST00000297866	Transcript						ENSG00000165164	g.chrX:35985840C>T	28546			MODERATE		0.41	neutral	getma.org/?cm=msa&ty=f&p=CX022_HUMAN&rb=23&re=950&var=R569C	NA	getma.org/?cm=var&var=hg19,X,35985840,C,T&fts=all	R569C	--	--	1																																		CXorf22_uc010ngv.2_RNA	1,1	1		benign(0.006)	p.R569C	NM_152632	NP_689845		tolerated(0.11)	1,1	CX022_HUMAN	CXorf22	HGNC	Q6ZTR5	CX022_HUMAN					10	1764	+			UPI000022DD27	569					SNV	CXorf22,missense_variant,p.Arg569Cys,ENST00000297866,NM_152632.3;CXorf22,missense_variant,p.Arg569Cys,ENST00000493930,;	uc004ddj.2	c.1705C>T	1771/3608	1	1			c.1705C>T						23	SNP	c.(1705-1707)CGC>TGC	15	15			large_intestine(1)|lung(1)|ovary(1)	3	Broad	hypothetical protein LOC170063			35985840		0.453	ENSG00000165164	4029	g.chrX:35985840C>T										44.544368	KEEP	13	9	-1	24	29	13	9	-1	48.059556	24	29	0.257576	1	0	0	0	0	1	0	0	0	--	--		0	T			CXorf22_uc010ngv.2_RNA	99	GBM-06-5417-TP	p.R569C	C	AGCCATGACACGCACTCACAA	NM_152632	NP_689845	35985840	Q6ZTR5	CX022_HUMAN	0			10	1764	+	T	T			Missense_Mutation	569						
CXorf22	0	broad.mit.edu	GRCh37	X	35993898	35993898	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297866.5:c.2581C>T	p.Arg861Ter	p.R861*	ENST00000297866	NM_152632.3	861	Cga/Tga	0			1			T	R/*	uc004ddj.2	protein_coding	YES	CCDS14237.2			2581/2931									large_intestine(1)|lung(1)|ovary(1)	3	c.(2581-2583)CGA>TGA			hmmpanther:PTHR23053	hypothetical protein LOC170063				ENSP00000297866		15/16									COSM3406334	15/16	.		ENST00000297866	Transcript						ENSG00000165164	g.chrX:35993898C>T	28546			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,X,35993898,C,T&fts=all	R861*	--	--	1																																		CXorf22_uc010ngv.2_RNA	1	1			p.R861*	NM_152632	NP_689845			1	CX022_HUMAN	CXorf22	HGNC	Q6ZTR5	CX022_HUMAN					15	2640	+			UPI000022DD27	861					SNV	CXorf22,stop_gained,p.Arg861Ter,ENST00000297866,NM_152632.3;CXorf22,3_prime_UTR_variant,,ENST00000493930,;	uc004ddj.2	c.2581C>T	2647/3608	5	2			c.2581C>T						23	SNP	c.(2581-2583)CGA>TGA	33	33			large_intestine(1)|lung(1)|ovary(1)	3	Broad	hypothetical protein LOC170063			35993898		0.438	ENSG00000165164	4029	g.chrX:35993898C>T										622.544149	KEEP	104	116	-1	39	43	104	116	-1	633.615536	39	43	0.718147	1	0	0	0	0	0	1	0	0	--	--		0	T			CXorf22_uc010ngv.2_RNA	102	GBM-06-5858-TP	p.R861*	C	ATTGAGACCACGAGGCTTCTT	NM_152632	NP_689845	35993898	Q6ZTR5	CX022_HUMAN	0			15	2640	+	T	T			Nonsense_Mutation	861						
CXorf22	0	broad.mit.edu	GRCh37	X	35966473	35966473	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-6391-01	TCGA-06-6391-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297866.5:c.560T>A	p.Ile187Asn	p.I187N	ENST00000297866	NM_152632.3	187	aTt/aAt	0			1			A	I/N	uc004ddj.2	protein_coding	YES	CCDS14237.2			560/2931									large_intestine(1)|lung(1)|ovary(1)	3	c.(559-561)ATT>AAT			hmmpanther:PTHR23053	hypothetical protein LOC170063				ENSP00000297866		16-Apr										16-Apr	.		ENST00000297866	Transcript						ENSG00000165164	g.chrX:35966473T>A	28546			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=CX022_HUMAN&rb=23&re=950&var=I187N	NA	getma.org/?cm=var&var=hg19,X,35966473,T,A&fts=all	I187N	--	--	1																																		CXorf22_uc010ngv.2_RNA		1		probably_damaging(0.931)	p.I187N	NM_152632	NP_689845		deleterious(0)		CX022_HUMAN	CXorf22	HGNC	Q6ZTR5	CX022_HUMAN					4	619	+			UPI000022DD27	187					SNV	CXorf22,missense_variant,p.Ile187Asn,ENST00000297866,NM_152632.3;CXorf22,missense_variant,p.Ile187Asn,ENST00000493930,;	uc004ddj.2	c.560T>A	626/3608	1	1			c.560T>A						23	SNP	c.(559-561)ATT>AAT	53	53			large_intestine(1)|lung(1)|ovary(1)	3	Broad	hypothetical protein LOC170063			35966473		0.403	ENSG00000165164	4029	g.chrX:35966473T>A										59.769949	KEEP	18	13	-1	64	91	18	13	-1	76.998061	64	91	0.171598	1	0	0	0	0	1	0	0	0	--	--		0	A			CXorf22_uc010ngv.2_RNA	107	GBM-06-6391-TP	p.I187N	T	CCCATCCTCATTTTTCCAACT	NM_152632	NP_689845	35966473	Q6ZTR5	CX022_HUMAN	0			4	619	+	A	A			Missense_Mutation	187						
CXorf22	0	broad.mit.edu	GRCh37	X	36007487	36007487	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297866.5:c.2765G>A	p.Gly922Asp	p.G922D	ENST00000297866	NM_152632.3	922	gGc/gAc	0			1			A	G/D	uc004ddj.2	protein_coding	YES	CCDS14237.2			2765/2931									large_intestine(1)|lung(1)|ovary(1)	3	c.(2764-2766)GGC>GAC			hmmpanther:PTHR23053	hypothetical protein LOC170063				ENSP00000297866		16/16									COSM2156059	16/16	.		ENST00000297866	Transcript						ENSG00000165164	g.chrX:36007487G>A	28546			MODERATE		2.19	medium	getma.org/?cm=msa&ty=f&p=CX022_HUMAN&rb=23&re=950&var=G922D	NA	getma.org/?cm=var&var=hg19,X,36007487,G,A&fts=all	G922D	--	--	1																																		CXorf22_uc010ngv.2_RNA	1	1		possibly_damaging(0.904)	p.G922D	NM_152632	NP_689845		deleterious(0.01)	1	CX022_HUMAN	CXorf22	HGNC	Q6ZTR5	CX022_HUMAN					16	2824	+			UPI000022DD27	922					SNV	CXorf22,missense_variant,p.Gly922Asp,ENST00000297866,NM_152632.3;CXorf22,3_prime_UTR_variant,,ENST00000493930,;	uc004ddj.2	c.2765G>A	2831/3608	1	1			c.2765G>A						23	SNP	c.(2764-2766)GGC>GAC	64	64			large_intestine(1)|lung(1)|ovary(1)	3	Broad	hypothetical protein LOC170063			36007487		0.368	ENSG00000165164	4029	g.chrX:36007487G>A										66.906709	KEEP	11	12	-1	5	14	11	12	-1	67.345393	5	14	0.625	1	0	0	0	0	1	0	0	0	--	--		0	A			CXorf22_uc010ngv.2_RNA	160	GBM-19-1790-TP	p.G922D	G	TGGCAGCAGGGCTTCAGTTCT	NM_152632	NP_689845	36007487	Q6ZTR5	CX022_HUMAN	0			16	2824	+	A	A			Missense_Mutation	922						
CXorf22	0	broad.mit.edu	GRCh37	X	35985763	35985763	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01	TCGA-28-2509-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297866.5:c.1628C>T	p.Thr543Met	p.T543M	ENST00000297866	NM_152632.3	543	aCg/aTg	0			1			T	T/M	uc004ddj.2	protein_coding	YES	CCDS14237.2			1628/2931									large_intestine(1)|lung(1)|ovary(1)	3	c.(1627-1629)ACG>ATG			hmmpanther:PTHR23053	hypothetical protein LOC170063				ENSP00000297866		16-Oct	8.24E-06					2.12E-05			rs763959435,COSM1682541,COSM1682540	16-Oct	.		ENST00000297866	Transcript						ENSG00000165164	g.chrX:35985763C>T	28546			MODERATE		2.135	medium	getma.org/?cm=msa&ty=f&p=CX022_HUMAN&rb=23&re=950&var=T543M	NA	getma.org/?cm=var&var=hg19,X,35985763,C,T&fts=all	T543M	--	--	1																																		CXorf22_uc010ngv.2_RNA	0,1,1	1		probably_damaging(0.945)	p.T543M	NM_152632	NP_689845		deleterious(0)	0,1,1	CX022_HUMAN	CXorf22	HGNC	Q6ZTR5	CX022_HUMAN					10	1687	+			UPI000022DD27	543					SNV	CXorf22,missense_variant,p.Thr543Met,ENST00000297866,NM_152632.3;CXorf22,missense_variant,p.Thr543Met,ENST00000493930,;	uc004ddj.2	c.1628C>T	1694/3608	2	2			c.1628C>T						23	SNP	c.(1627-1629)ACG>ATG	32	32			large_intestine(1)|lung(1)|ovary(1)	3	Broad	hypothetical protein LOC170063			35985763		0.353	ENSG00000165164	4029	g.chrX:35985763C>T										-22.616905	KEEP	4	0	-1	81	64	4	0	-1	7.613326	81	64	0.031746	1	0	0	0	0	1	0	0	0	--	--		0	T			CXorf22_uc010ngv.2_RNA	211	GBM-28-2509-TP	p.T543M	C	CGTAATCCCACGGGAAAGTTT	NM_152632	NP_689845	35985763	Q6ZTR5	CX022_HUMAN	0			10	1687	+	T	T			Missense_Mutation	543						
CXorf22			GRCh37	X	35985796	35985796	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000297866.5:c.1661G>A	p.Arg554His	p.R554H	ENST00000297866	NM_152632.3	554	cGc/cAc	0																																																																																																																																																																																																																																												
CXorf23	0	broad.mit.edu	GRCh37	X	19968977	19968977	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0189-01	TCGA-06-0189-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379687.3:c.1639A>C	p.Lys547Gln	p.K547Q	ENST00000379687	NM_198279.3	547	Aaa/Caa	0			1			G	K/Q	uc004czp.2	protein_coding					1639/2136									lung(1)|skin(1)	2	c.(1639-1641)AAA>CAA			hmmpanther:PTHR15268:SF9,hmmpanther:PTHR15268,Pfam_domain:PF15440	hypothetical protein LOC256643				ENSP00000369004		11-Jul									COSM3406223,COSM3406222	11-Jul	.		ENST00000379682	Transcript				mitochondrion		ENSG00000173681	g.chrX:19968977T>G	27413			MODERATE		1.74	low	getma.org/?cm=msa&ty=f&p=CX023_HUMAN&rb=425&re=624&var=K547Q	NA	getma.org/?cm=var&var=hg19,X,19968977,T,G&fts=all	K547Q	--	--	1																																		CXorf23_uc010nfn.2_RNA|CXorf23_uc011mjg.1_Missense_Mutation_p.K112Q|CXorf23_uc004czo.2_Missense_Mutation_p.K497Q	1,1			probably_damaging(0.971)	p.K547Q	NM_198279	NP_938020		tolerated(0.05)	1,1	CX023_HUMAN	CXorf23	HGNC	A2AJT9	CX023_HUMAN					7	1639	-			UPI0000EE0602	547					SNV	CXorf23,missense_variant,p.Lys547Gln,ENST00000379687,NM_198279.3;CXorf23,missense_variant,p.Lys547Gln,ENST00000356980,;CXorf23,missense_variant,p.Lys547Gln,ENST00000379682,;CXorf23,missense_variant,p.Lys156Gln,ENST00000340625,;CXorf23,missense_variant,p.Lys112Gln,ENST00000472158,;	uc004czp.2	c.1639A>C	1673/3217	3	3			c.1639A>C						23	SNP	c.(1639-1641)AAA>CAA	5	5			lung(1)|skin(1)	2	Broad	hypothetical protein LOC256643			19968977		0.363	ENSG00000173681	4030	g.chrX:19968977T>G		mitochondrion								-4.458563	KEEP	2	2	-1	34	35	2	2	-1	9.408572	34	35	0.058824	1	0	0	0	0	1	0	0	0	--	--		0	G			CXorf23_uc010nfn.2_RNA|CXorf23_uc011mjg.1_Missense_Mutation_p.K112Q|CXorf23_uc004czo.2_Missense_Mutation_p.K497Q	42	GBM-06-0189-TP	p.K547Q	T	TCTATTATTTTGATCAGAGTC	NM_198279	NP_938020	19968977	A2AJT9	CX023_HUMAN	0			7	1639	-	G	G			Missense_Mutation	547						
CXorf23	0	broad.mit.edu	GRCh37	X	19968952	19968952	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01	TCGA-06-2563-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379687.3:c.1664G>A	p.Arg555Gln	p.R555Q	ENST00000379687	NM_198279.3	555	cGa/cAa	0			1			T	R/Q	uc004czp.2	protein_coding					1664/2136									lung(1)|skin(1)	2	c.(1663-1665)CGA>CAA			hmmpanther:PTHR15268:SF9,hmmpanther:PTHR15268,Pfam_domain:PF15440	hypothetical protein LOC256643				ENSP00000369004		11-Jul									COSM1118999,COSM1118998	11-Jul	.		ENST00000379682	Transcript				mitochondrion		ENSG00000173681	g.chrX:19968952C>T	27413			MODERATE		2.395	medium	getma.org/?cm=msa&ty=f&p=CX023_HUMAN&rb=425&re=624&var=R555Q	NA	getma.org/?cm=var&var=hg19,X,19968952,C,T&fts=all	R555Q	--	--	1																																		CXorf23_uc010nfn.2_RNA|CXorf23_uc011mjg.1_Missense_Mutation_p.R120Q|CXorf23_uc004czo.2_Missense_Mutation_p.R505Q	1,1			probably_damaging(0.989)	p.R555Q	NM_198279	NP_938020		deleterious(0)	1,1	CX023_HUMAN	CXorf23	HGNC	A2AJT9	CX023_HUMAN					7	1664	-			UPI0000EE0602	555					SNV	CXorf23,missense_variant,p.Arg555Gln,ENST00000379687,NM_198279.3;CXorf23,missense_variant,p.Arg555Gln,ENST00000356980,;CXorf23,missense_variant,p.Arg555Gln,ENST00000379682,;CXorf23,missense_variant,p.Arg164Gln,ENST00000340625,;CXorf23,missense_variant,p.Arg120Gln,ENST00000472158,;	uc004czp.2	c.1664G>A	1698/3217	2	2			c.1664G>A						23	SNP	c.(1663-1665)CGA>CAA	17	17			lung(1)|skin(1)	2	Broad	hypothetical protein LOC256643			19968952		0.368	ENSG00000173681	4030	g.chrX:19968952C>T		mitochondrion								224.931486	KEEP	38	44	-1	71	66	38	44	-1	227.536191	71	66	0.376289	1	0	0	0	0	1	0	0	0	--	--		0	T			CXorf23_uc010nfn.2_RNA|CXorf23_uc011mjg.1_Missense_Mutation_p.R120Q|CXorf23_uc004czo.2_Missense_Mutation_p.R505Q	86	GBM-06-2563-TP	p.R555Q	C	AATGTCATGTCGTAGGTCATT	NM_198279	NP_938020	19968952	A2AJT9	CX023_HUMAN	0			7	1664	-	T	T			Missense_Mutation	555						
CXorf27	0	broad.mit.edu	GRCh37	X	37850145	37850145	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-2558-01	TCGA-06-2558-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341016.3:c.53A>T	p.Gln18Leu	p.Q18L	ENST00000341016	NM_012274.1	18	cAa/cTa	0			1			T	Q/L	uc004ddt.3	protein_coding	YES	CCDS43929.1			53/354									central_nervous_system(1)	1	c.(52-54)CAA>CTA			Gene3D:1.10.20.10,Superfamily_domains:SSF47113	Huntingtin interacting protein M				ENSP00000339511		1-Jan									COSM3406348	1-Jan	.		ENST00000341016	Transcript					DNA binding	ENSG00000187516	g.chrX:37850145A>T	18417			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=HYPM_HUMAN&rb=1&re=117&var=Q18L	NA	getma.org/?cm=var&var=hg19,X,37850145,A,T&fts=all	Q18L	--	--	1																																			1	1		benign(0.139)	p.Q18L	NM_012274	NP_036406		deleterious(0.03)	1	HYPM_HUMAN	CXorf27	HGNC	O75409	HYPM_HUMAN					1	76	+			UPI00001C2067	18					SNV	CXorf27,missense_variant,p.Gln18Leu,ENST00000341016,NM_012274.1;TM4SF2,intron_variant,,ENST00000465127,;AL121578.7,upstream_gene_variant,,ENST00000448797,;	uc004ddt.3	c.53A>T	76/500	2	2			c.53A>T						23	SNP	c.(52-54)CAA>CTA	42	42			central_nervous_system(1)	1	Broad	Huntingtin interacting protein M			37850145		0.458	ENSG00000187516	4032	g.chrX:37850145A>T			DNA binding							10.851406	KEEP	4	4	-1	23	32	4	4	-1	18.935932	23	32	0.131148	1	0	0	0	0	1	0	0	0	--	--		0	T				82	GBM-06-2558-TP	p.Q18L	A	AACCAGACTCAAGACCCTTCT	NM_012274	NP_036406	37850145	O75409	HYPM_HUMAN	0			1	76	+	T	T			Missense_Mutation	18						
CXorf57	0	broad.mit.edu	GRCh37	X	105855511	105855511	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372548.4:c.201G>A	p.Val67=	p.V67=	ENST00000372548	NM_018015.5	67	gtG/gtA	0			1			A	V	uc004emi.3	protein_coding	YES	CCDS14519.1			201/2568									ovary(1)|lung(1)|breast(1)	3	c.(199-201)GTG>GTA			hmmpanther:PTHR14944:SF2,hmmpanther:PTHR14944,Superfamily_domains:SSF50249	hypothetical protein LOC55086				ENSP00000361628		14-Jan									COSM2151241	14-Jan	.		ENST00000372548	Transcript						ENSG00000147231	g.chrX:105855511G>A	25486			LOW								--	--	1																																		CXorf57_uc004emj.3_Silent_p.V67V|CXorf57_uc004emh.2_Silent_p.V67V	1	1			p.V67V	NM_018015	NP_060485			1	CX057_HUMAN	CXorf57	HGNC	Q6NSI4	CX057_HUMAN					1	352	+			UPI000021220A	67					SNV	CXorf57,synonymous_variant,p.=,ENST00000372548,NM_018015.5;CXorf57,synonymous_variant,p.=,ENST00000372544,NM_001184782.1;CXorf57,upstream_gene_variant,,ENST00000421550,;CXorf57,synonymous_variant,p.=,ENST00000461251,;	uc004emi.3	c.201G>A	310/3861	1	1			c.201G>A						23	SNP	c.(199-201)GTG>GTA	64	64			ovary(1)|lung(1)|breast(1)	3	Broad	hypothetical protein LOC55086			105855511		0.572	ENSG00000147231	4040	g.chrX:105855511G>A										246.853389	KEEP	46	47	-1	26	25	46	47	-1	249.280737	26	25	0.646154	1	0	0	0	0	0	0	1	0	--	--		0	A			CXorf57_uc004emj.3_Silent_p.V67V|CXorf57_uc004emh.2_Silent_p.V67V	58	GBM-06-0644-TP	p.V67V	G	CGGAGGTGGTGCCTGTAACTG	NM_018015	NP_060485	105855511	Q6NSI4	CX057_HUMAN	0			1	352	+	A	A			Silent	67						
CXorf57	0	broad.mit.edu	GRCh37	X	105881005	105881005	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01	TCGA-06-0744-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372548.4:c.1424C>T	p.Pro475Leu	p.P475L	ENST00000372548	NM_018015.5	475	cCg/cTg	0			1			T	P/L	uc004emi.3	protein_coding	YES	CCDS14519.1			1424/2568									ovary(1)|lung(1)|breast(1)	3	c.(1423-1425)CCG>CTG			hmmpanther:PTHR14944:SF2,hmmpanther:PTHR14944	hypothetical protein LOC55086				ENSP00000361628		14-Aug									COSM2151659	14-Aug	.		ENST00000372548	Transcript						ENSG00000147231	g.chrX:105881005C>T	25486			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=CX057_HUMAN&rb=401&re=600&var=P475L	NA	getma.org/?cm=var&var=hg19,X,105881005,C,T&fts=all	P475L	--	--	1																																		CXorf57_uc004emj.3_Missense_Mutation_p.P475L|CXorf57_uc004emh.2_Missense_Mutation_p.P475L	1	1		benign(0.089)	p.P475L	NM_018015	NP_060485		deleterious(0.03)	1	CX057_HUMAN	CXorf57	HGNC	Q6NSI4	CX057_HUMAN					8	1575	+			UPI000021220A	475					SNV	CXorf57,missense_variant,p.Pro475Leu,ENST00000372548,NM_018015.5;CXorf57,missense_variant,p.Pro475Leu,ENST00000372544,NM_001184782.1;CXorf57,missense_variant,p.Pro283Leu,ENST00000421550,;MIR548AN,upstream_gene_variant,,ENST00000408286,;CXorf57,upstream_gene_variant,,ENST00000497124,;CXorf57,upstream_gene_variant,,ENST00000478395,;CXorf57,missense_variant,p.Pro475Leu,ENST00000461251,;	uc004emi.3	c.1424C>T	1533/3861	1	1			c.1424C>T						23	SNP	c.(1423-1425)CCG>CTG	1	1			ovary(1)|lung(1)|breast(1)	3	Broad	hypothetical protein LOC55086			105881005		0.368	ENSG00000147231	4040	g.chrX:105881005C>T										102.923599	KEEP	19	10	-1	2	5	19	10	-1	106.766341	2	5	0.848485	1	0	0	0	0	1	0	0	0	--	--		0	T			CXorf57_uc004emj.3_Missense_Mutation_p.P475L|CXorf57_uc004emh.2_Missense_Mutation_p.P475L	66	GBM-06-0744-TP	p.P475L	C	AGAGGCCAGCCGTATACGTAT	NM_018015	NP_060485	105881005	Q6NSI4	CX057_HUMAN	0			8	1575	+	T	T			Missense_Mutation	475						
CXorf57	0	broad.mit.edu	GRCh37	X	105855567	105855567	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01	TCGA-26-5136-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372548.4:c.257C>T	p.Thr86Met	p.T86M	ENST00000372548	NM_018015.5	86	aCg/aTg	0			1			T	T/M	uc004emi.3	protein_coding	YES	CCDS14519.1			257/2568									ovary(1)|lung(1)|breast(1)	3	c.(256-258)ACG>ATG			hmmpanther:PTHR14944:SF2,hmmpanther:PTHR14944,Superfamily_domains:SSF50249	hypothetical protein LOC55086				ENSP00000361628		14-Jan									COSM2157146	14-Jan	.		ENST00000372548	Transcript						ENSG00000147231	g.chrX:105855567C>T	25486			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=CX057_HUMAN&rb=1&re=200&var=T86M	NA	getma.org/?cm=var&var=hg19,X,105855567,C,T&fts=all	T86M	--	--	1																																		CXorf57_uc004emj.3_Missense_Mutation_p.T86M|CXorf57_uc004emh.2_Missense_Mutation_p.T86M	1	1		benign(0.032)	p.T86M	NM_018015	NP_060485		tolerated(0.21)	1	CX057_HUMAN	CXorf57	HGNC	Q6NSI4	CX057_HUMAN					1	408	+			UPI000021220A	86					SNV	CXorf57,missense_variant,p.Thr86Met,ENST00000372548,NM_018015.5;CXorf57,missense_variant,p.Thr86Met,ENST00000372544,NM_001184782.1;CXorf57,upstream_gene_variant,,ENST00000421550,;CXorf57,missense_variant,p.Thr86Met,ENST00000461251,;	uc004emi.3	c.257C>T	366/3861	1	1			c.257C>T						23	SNP	c.(256-258)ACG>ATG	13	13			ovary(1)|lung(1)|breast(1)	3	Broad	hypothetical protein LOC55086			105855567		0.557	ENSG00000147231	4040	g.chrX:105855567C>T										216.177817	KEEP	45	48	-1	119	98	45	48	-1	227.152985	119	98	0.295918	1	0	0	0	0	1	0	0	0	--	--		0	T			CXorf57_uc004emj.3_Missense_Mutation_p.T86M|CXorf57_uc004emh.2_Missense_Mutation_p.T86M	185	GBM-26-5136-TP	p.T86M	C	CCACGCGACACGGTGCCCAAG	NM_018015	NP_060485	105855567	Q6NSI4	CX057_HUMAN	0			1	408	+	T	T			Missense_Mutation	86						
CXorf57	0	broad.mit.edu	GRCh37	X	105882786	105882786	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01	TCGA-32-4208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372548.4:c.1603G>C	p.Val535Leu	p.V535L	ENST00000372548	NM_018015.5	535	Gtc/Ctc	0			1			C	V/L	uc004emi.3	protein_coding	YES	CCDS14519.1			1603/2568									ovary(1)|lung(1)|breast(1)	3	c.(1603-1605)GTC>CTC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14944:SF2,hmmpanther:PTHR14944	hypothetical protein LOC55086				ENSP00000361628		14-Sep									COSM3405817	14-Sep	.		ENST00000372548	Transcript						ENSG00000147231	g.chrX:105882786G>C	25486			MODERATE		0.715	neutral	getma.org/?cm=msa&ty=f&p=CX057_HUMAN&rb=401&re=600&var=V535L	NA	getma.org/?cm=var&var=hg19,X,105882786,G,C&fts=all	V535L	--	--	1																																		CXorf57_uc004emj.3_Intron	1	1		benign(0.203)	p.V535L	NM_018015	NP_060485		tolerated(0.93)	1	CX057_HUMAN	CXorf57	HGNC	Q6NSI4	CX057_HUMAN					9	1754	+			UPI000021220A	535					SNV	CXorf57,missense_variant,p.Val535Leu,ENST00000372548,NM_018015.5;CXorf57,intron_variant,,ENST00000372544,NM_001184782.1;CXorf57,intron_variant,,ENST00000421550,;MIR548AN,upstream_gene_variant,,ENST00000408286,;CXorf57,non_coding_transcript_exon_variant,,ENST00000478395,;CXorf57,upstream_gene_variant,,ENST00000497124,;CXorf57,downstream_gene_variant,,ENST00000461251,;	uc004emi.3	c.1603G>C	1712/3861	4	4			c.1603G>C						23	SNP	c.(1603-1605)GTC>CTC	45	45			ovary(1)|lung(1)|breast(1)	3	Broad	hypothetical protein LOC55086			105882786		0.363	ENSG00000147231	4040	g.chrX:105882786G>C										-13.81026	KEEP	4	3	-1	89	83	4	3	-1	18.777892	89	83	0.04698	1	0	0	0	0	1	0	0	0	--	--		0	C			CXorf57_uc004emj.3_Intron	243	GBM-32-4208-TP	p.V535L	G	TATAAGTGAAGTCAGGAAGGA	NM_018015	NP_060485	105882786	Q6NSI4	CX057_HUMAN	0			9	1754	+	C	C			Missense_Mutation	535						
CXorf57	0	broad.mit.edu	GRCh37	X	105882797	105882797	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01	TCGA-32-4208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372548.4:c.1614G>C	p.Glu538Asp	p.E538D	ENST00000372548	NM_018015.5	538	gaG/gaC	0			1			C	E/D	uc004emi.3	protein_coding	YES	CCDS14519.1			1614/2568									ovary(1)|lung(1)|breast(1)	3	c.(1612-1614)GAG>GAC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14944:SF2,hmmpanther:PTHR14944	hypothetical protein LOC55086				ENSP00000361628		14-Sep									COSM3405818	14-Sep	.		ENST00000372548	Transcript						ENSG00000147231	g.chrX:105882797G>C	25486			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=CX057_HUMAN&rb=401&re=600&var=E538D	NA	getma.org/?cm=var&var=hg19,X,105882797,G,C&fts=all	E538D	--	--	1																																		CXorf57_uc004emj.3_Intron	1	1		benign(0.367)	p.E538D	NM_018015	NP_060485		deleterious(0.03)	1	CX057_HUMAN	CXorf57	HGNC	Q6NSI4	CX057_HUMAN					9	1765	+			UPI000021220A	538					SNV	CXorf57,missense_variant,p.Glu538Asp,ENST00000372548,NM_018015.5;CXorf57,intron_variant,,ENST00000372544,NM_001184782.1;CXorf57,intron_variant,,ENST00000421550,;MIR548AN,upstream_gene_variant,,ENST00000408286,;CXorf57,non_coding_transcript_exon_variant,,ENST00000478395,;CXorf57,upstream_gene_variant,,ENST00000497124,;CXorf57,downstream_gene_variant,,ENST00000461251,;	uc004emi.3	c.1614G>C	1723/3861	3	3			c.1614G>C						23	SNP	c.(1612-1614)GAG>GAC	52	52			ovary(1)|lung(1)|breast(1)	3	Broad	hypothetical protein LOC55086			105882797		0.373	ENSG00000147231	4040	g.chrX:105882797G>C										-21.391046	KEEP	5	2	-1	88	98	5	2	-1	15.088024	88	98	0.037975	1	0	0	0	0	1	0	0	0	--	--		0	C			CXorf57_uc004emj.3_Intron	243	GBM-32-4208-TP	p.E538D	G	TCAGGAAGGAGATTGAAGACT	NM_018015	NP_060485	105882797	Q6NSI4	CX057_HUMAN	0			9	1765	+	C	C			Missense_Mutation	538						
CXorf57	0	broad.mit.edu	GRCh37	X	105855563	105855563	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01	TCGA-76-4934-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372548.4:c.253G>A	p.Asp85Asn	p.D85N	ENST00000372548	NM_018015.5	85	Gac/Aac	0			1			A	D/N	uc004emi.3	protein_coding	YES	CCDS14519.1			253/2568									ovary(1)|lung(1)|breast(1)	3	c.(253-255)GAC>AAC			hmmpanther:PTHR14944:SF2,hmmpanther:PTHR14944,Superfamily_domains:SSF50249	hypothetical protein LOC55086				ENSP00000361628		14-Jan									COSM1112534	14-Jan	.		ENST00000372548	Transcript						ENSG00000147231	g.chrX:105855563G>A	25486			MODERATE		0.92	low	getma.org/?cm=msa&ty=f&p=CX057_HUMAN&rb=1&re=200&var=D85N	NA	getma.org/?cm=var&var=hg19,X,105855563,G,A&fts=all	D85N	--	--	1																																		CXorf57_uc004emj.3_Missense_Mutation_p.D85N|CXorf57_uc004emh.2_Missense_Mutation_p.D85N	1	1		benign(0.017)	p.D85N	NM_018015	NP_060485		tolerated(0.16)	1	CX057_HUMAN	CXorf57	HGNC	Q6NSI4	CX057_HUMAN					1	404	+			UPI000021220A	85					SNV	CXorf57,missense_variant,p.Asp85Asn,ENST00000372548,NM_018015.5;CXorf57,missense_variant,p.Asp85Asn,ENST00000372544,NM_001184782.1;CXorf57,upstream_gene_variant,,ENST00000421550,;CXorf57,missense_variant,p.Asp85Asn,ENST00000461251,;	uc004emi.3	c.253G>A	362/3861	1	1			c.253G>A						23	SNP	c.(253-255)GAC>AAC	57	57			ovary(1)|lung(1)|breast(1)	3	Broad	hypothetical protein LOC55086			105855563		0.572	ENSG00000147231	4040	g.chrX:105855563G>A										197.429214	KEEP	45	38	-1	117	146	45	38	-1	215.659419	117	146	0.250774	1	0	0	0	0	1	0	0	0	--	--		0	A			CXorf57_uc004emj.3_Missense_Mutation_p.D85N|CXorf57_uc004emh.2_Missense_Mutation_p.D85N	272	GBM-76-4934-TP	p.D85N	G	TGAGCCACGCGACACGGTGCC	NM_018015	NP_060485	105855563	Q6NSI4	CX057_HUMAN	0			1	404	+	A	A			Missense_Mutation	85						
CXorf58	0	broad.mit.edu	GRCh37	X	23953460	23953460	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-12-5299-01	TCGA-12-5299-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379211.3:c.703C>T	p.Arg235Ter	p.R235*	ENST00000379211	NM_001169574.1	235	Cga/Tga	0			1			T	R/*	uc004daz.1	protein_coding	YES	CCDS14209.1			703/999										0	c.(703-705)CGA>TGA				hypothetical protein LOC254158				ENSP00000368511		9-Jul	8.24E-06	0.000118							rs771619651,COSM3037077,COSM3037076	9-Jul	.		ENST00000379211	Transcript						ENSG00000165182	g.chrX:23953460C>T	26356			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,X,23953460,C,T&fts=all	R235*	--	--	1																																		CXorf58_uc011mju.1_Nonsense_Mutation_p.R235*	0,1,1	1			p.R235*	NM_152761	NP_689974			0,1,1	CX058_HUMAN	CXorf58	HGNC	Q96LI9	CX058_HUMAN					7	1047	+			UPI00001AEC5F	235					SNV	CXorf58,stop_gained,p.Arg235Ter,ENST00000379211,NM_001169574.1,NM_152761.2;	uc004daz.1	c.703C>T	1252/1752	5	2			c.703C>T						23	SNP	c.(703-705)CGA>TGA	38	38				0	Broad	hypothetical protein LOC254158			23953460		0.378	ENSG00000165182	4041	g.chrX:23953460C>T										279.889218	KEEP	52	52	-1	59	82	52	52	-1	281.120687	59	82	0.419355	1	0	0	0	0	0	1	0	0	--	--		0	T			CXorf58_uc011mju.1_Nonsense_Mutation_p.R235*	130	GBM-12-5299-TP	p.R235*	C	AAACCGTCTACGAAATGAAAT	NM_152761	NP_689974	23953460	Q96LI9	CX058_HUMAN	0			7	1047	+	T	T			Nonsense_Mutation	235						
CXorf65	0	broad.mit.edu	GRCh37	X	70325861	70325861	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01	TCGA-28-5216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374251.5:c.239G>A	p.Arg80His	p.R80H	ENST00000374251	NM_001025265.2	80	cGt/cAt	0			1			T	R/H	uc011mpo.1	protein_coding	YES	CCDS35324.1			239/552									central_nervous_system(1)	1	c.(238-240)CGT>CAT			hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF16	hypothetical protein LOC158830				ENSP00000363369		6-Mar	0.000173			0.00196					rs765249440,COSM1491205,COSM3406555	6-Mar	common_variant		ENST00000374251	Transcript						ENSG00000204165	g.chrX:70325861C>T	33713			MODERATE		1.32	low	getma.org/?cm=msa&ty=f&p=CX065_HUMAN&rb=10&re=181&var=R80H	NA	getma.org/?cm=var&var=hg19,X,70325861,C,T&fts=all	R80H	--	--	1																																		CXorf65_uc011mpp.1_Missense_Mutation_p.R32H	0,1,1	1		benign(0.116)	p.R80H	NM_001025265	NP_001020436		tolerated(0.27)	0,1,1	CX065_HUMAN	CXorf65	HGNC	A6NEN9	CX065_HUMAN			C9J8K0_HUMAN		3	253	-			UPI0000160F66	80					SNV	CXorf65,missense_variant,p.Arg80His,ENST00000374251,NM_001025265.2;FOXO4,downstream_gene_variant,,ENST00000374259,NM_005938.3,NM_001170931.1;IL2RG,downstream_gene_variant,,ENST00000374202,NM_000206.2;FOXO4,downstream_gene_variant,,ENST00000341558,;IL2RG,downstream_gene_variant,,ENST00000487883,;IL2RG,downstream_gene_variant,,ENST00000464642,;IL2RG,downstream_gene_variant,,ENST00000456850,;IL2RG,downstream_gene_variant,,ENST00000482750,;IL2RG,downstream_gene_variant,,ENST00000473378,;IL2RG,downstream_gene_variant,,ENST00000374188,;CXorf65,3_prime_UTR_variant,,ENST00000438526,;CXorf65,non_coding_transcript_exon_variant,,ENST00000483257,;IL2RG,downstream_gene_variant,,ENST00000276110,;IL2RG,downstream_gene_variant,,ENST00000512747,;CXorf65,upstream_gene_variant,,ENST00000466160,;	uc011mpo.1	c.239G>A	288/601	2	2			c.239G>A						23	SNP	c.(238-240)CGT>CAT	28	28			central_nervous_system(1)	1	Broad	hypothetical protein LOC158830			70325861		0.433	ENSG00000204165	4044	g.chrX:70325861C>T										340.454562	KEEP	62	63	-1	7	12	62	63	-1	357.059346	7	12	0.870968	1	0	0	0	0	1	0	0	0	--	--		0	T			CXorf65_uc011mpp.1_Missense_Mutation_p.R32H	223	GBM-28-5216-TP	p.R80H	C	TGGTGGCCCACGTTCCACCTT	NM_001025265	NP_001020436	70325861	A6NEN9	CX065_HUMAN	0			3	253	-	T	T			Missense_Mutation	80						
CXorf65	0	broad.mit.edu	GRCh37	X	70324148	70324148	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T			TCGA-41-4097-01	TCGA-41-4097-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374251.5:c.426G>A	p.Pro142=	p.P142=	ENST00000374251	NM_001025265.2	142	ccG/ccA	0			1			T	P	uc011mpo.1	protein_coding	YES	CCDS35324.1			426/552									central_nervous_system(1)	1	c.(424-426)CCG>CCA			hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF16	hypothetical protein LOC158830				ENSP00000363369		6-May									COSM3406554,COSM3406553	6-May	.		ENST00000374251	Transcript						ENSG00000204165	g.chrX:70324148C>T	33713			LOW								--	--	1																																		CXorf65_uc011mpp.1_Silent_p.P94P	1,1	1			p.P142P	NM_001025265	NP_001020436			1,1	CX065_HUMAN	CXorf65	HGNC	A6NEN9	CX065_HUMAN			C9J8K0_HUMAN		5	440	-			UPI0000160F66	142					SNV	CXorf65,splice_region_variant,p.=,ENST00000374251,NM_001025265.2;FOXO4,downstream_gene_variant,,ENST00000374259,NM_005938.3,NM_001170931.1;IL2RG,downstream_gene_variant,,ENST00000374202,NM_000206.2;FOXO4,downstream_gene_variant,,ENST00000341558,;IL2RG,downstream_gene_variant,,ENST00000464642,;IL2RG,downstream_gene_variant,,ENST00000456850,;IL2RG,downstream_gene_variant,,ENST00000482750,;IL2RG,downstream_gene_variant,,ENST00000374188,;FOXO4,downstream_gene_variant,,ENST00000466874,;FOXO4,downstream_gene_variant,,ENST00000464598,;CXorf65,splice_region_variant,,ENST00000438526,;CXorf65,splice_region_variant,,ENST00000466160,;IL2RG,downstream_gene_variant,,ENST00000276110,;IL2RG,downstream_gene_variant,,ENST00000512747,;CXorf65,downstream_gene_variant,,ENST00000483257,;	uc011mpo.1	c.426G>A	475/601	2	2			c.426G>A						23	SNP	c.(424-426)CCG>CCA	17	17			central_nervous_system(1)	1	Broad	hypothetical protein LOC158830			70324148		0.517	ENSG00000204165	4044	g.chrX:70324148C>T										46.175477	KEEP	9	9	-1	25	21	9	9	-1	48.639519	25	21	0.280702	1	0	0	0	0	0	0	1	0	--	--		0	T			CXorf65_uc011mpp.1_Silent_p.P94P	257	GBM-41-4097-TP	p.P142P	C	CAAGTCTTACCGGGACACTCG	NM_001025265	NP_001020436	70324148	A6NEN9	CX065_HUMAN	0			5	440	-	T	T			Silent	142						
CXorf66	0	broad.mit.edu	GRCh37	X	139038184	139038184	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-19-5947-01	TCGA-19-5947-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370540.1:c.957A>G	p.Ala319=	p.A319=	ENST00000370540	NM_001013403.2	319	gcA/gcG	0			1			C	A	uc004fbb.2	protein_coding	YES	CCDS35411.1			957/1086										0	c.(955-957)GCA>GCG				hypothetical protein LOC347487 precursor				ENSP00000359571		3-Mar									COSM2156509	3-Mar	.		ENST00000370540	Transcript				integral to membrane		ENSG00000203933	g.chrX:139038184T>C	33743			LOW								--	--	1																																			1	1			p.A319A	NM_001013403	NP_001013421			1	CX066_HUMAN	CXorf66	HGNC	Q5JRM2	CX066_HUMAN					3	979	-			UPI00001D7C1C	319			Cytoplasmic (Potential).		SNV	CXorf66,synonymous_variant,p.=,ENST00000370540,NM_001013403.2;	uc004fbb.2	c.957A>G	981/1281	3	3			c.957A>G						23	SNP	c.(955-957)GCA>GCG	11	11				0	Broad	hypothetical protein LOC347487 precursor			139038184		0.383	ENSG00000203933	4045	g.chrX:139038184T>C		integral to membrane								191.907843	KEEP	30	40	-1	45	49	30	40	-1	192.724617	45	49	0.41844	1	0	0	0	0	0	0	1	0	--	--		0	C				169	GBM-19-5947-TP	p.A319A	T	GATCACCGTATGCATTGTTCC	NM_001013403	NP_001013421	139038184	Q5JRM2	CX066_HUMAN	0			3	979	-	C	C			Silent	319			Cytoplasmic (Potential).			
CXXC5	51523		GRCh37	5	139060958	139060958	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000302517.3:c.850C>T	p.Arg284Ter	p.R284*	ENST00000302517	NM_016463.7	284	Cga/Tga	0																																																																																																																																																																																																																																												
CYB561	1534		GRCh37	17	61514742	61514742	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000392976.1:c.167G>T	p.Cys56Phe	p.C56F	ENST00000392976	NM_001017916.1	56	tGc/tTc	0																																																																																																																																																																																																																																												
CYB5R1	51706		GRCh37	1	202932844	202932844	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000367249.4:c.571A>G	p.Met191Val	p.M191V	ENST00000367249	NM_016243.2	191	Atg/Gtg	0																																																																																																																																																																																																																																												
CYB5RL	606495	broad.mit.edu	GRCh37	1	54653374	54653374	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0188-01	TCGA-06-0188-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000419823.2:c.386C>T	p.Thr129Met	p.T129M	ENST00000419823	NM_001031672.2	129	aCg/aTg	0	A:0.0003		1			A	T/M	uc009vzo.2	protein_coding		CCDS44151.1			386/948										0	c.(385-387)ACG>ATG			Gene3D:2.40.30.10,Pfam_domain:PF00970,Prints_domain:PR00406,PROSITE_profiles:PS51384,hmmpanther:PTHR19370,hmmpanther:PTHR19370:SF81,Superfamily_domains:SSF63380	cytochrome b5 reductase-like			A:0	ENSP00000434343		6-Mar	4.96E-05	0.000102		0.000348		1.50E-05		6.06E-05	rs371181170,COSM3400886	6-Mar	.		ENST00000534324	Transcript					cytochrome-b5 reductase activity	ENSG00000215883	g.chr1:54653374G>A	32220			MODERATE		3.81	high	getma.org/?cm=msa&ty=f&p=NB5R5_HUMAN&rb=79&re=176&var=T129M	getma.org/pdb.php?prot=NB5R5_HUMAN&from=79&to=176&var=T129M	getma.org/?cm=var&var=hg19,1,54653374,G,A&fts=all	T129M	--	--	1																																		CYB5RL_uc001cww.2_Translation_Start_Site|CYB5RL_uc001cwx.3_RNA|CYB5RL_uc001cwy.3_Translation_Start_Site	0,1			probably_damaging(1)	p.T129M	NM_001031672	NP_001026842		deleterious(0)	0,1	NB5R5_HUMAN	CYB5RL	HGNC	Q6IPT4	NB5R5_HUMAN					5	706	-			UPI000019863E	129			FAD-binding FR-type.		SNV	CYB5RL,missense_variant,p.Thr129Met,ENST00000419823,NM_001031672.2;CYB5RL,missense_variant,p.Thr129Met,ENST00000542737,;CYB5RL,missense_variant,p.Thr129Met,ENST00000534324,;CYB5RL,missense_variant,p.Thr129Met,ENST00000537208,;CYB5RL,missense_variant,p.Thr129Met,ENST00000287899,;CYB5RL,5_prime_UTR_variant,,ENST00000401046,;CYB5RL,intron_variant,,ENST00000493530,;CYB5RL,downstream_gene_variant,,ENST00000497820,;MRPL37,intron_variant,,ENST00000487096,;CYB5RL,3_prime_UTR_variant,,ENST00000420054,;CYB5RL,3_prime_UTR_variant,,ENST00000421415,;CYB5RL,3_prime_UTR_variant,,ENST00000528287,;RP11-446E24.4,3_prime_UTR_variant,,ENST00000311841,;CYB5RL,non_coding_transcript_exon_variant,,ENST00000490863,;CYB5RL,non_coding_transcript_exon_variant,,ENST00000462299,;	uc009vzo.2	c.386C>T	386/1148	2	2			c.386C>T						1	SNP	c.(385-387)ACG>ATG	33	33				0	Broad	cytochrome b5 reductase-like			54653374		0.448	ENSG00000215883	4057	g.chr1:54653374G>A			cytochrome-b5 reductase activity							-28.120601	KEEP	0	4	-1	65	92	0	4	-1	6.708167	65	92	0.028169	1	0	0	0	0	1	0	0	0	--	--		0	A			CYB5RL_uc001cww.2_Translation_Start_Site|CYB5RL_uc001cwx.3_RNA|CYB5RL_uc001cwy.3_Translation_Start_Site	41	GBM-06-0188-TP	p.T129M	G	GCTGATGGGCGTATAGGCTCT	NM_001031672	NP_001026842	54653374	Q6IPT4	NB5R5_HUMAN	0			5	706	-	A	A			Missense_Mutation	129			FAD-binding FR-type.			
CYBB	1536	broad.mit.edu	GRCh37	X	37663372	37663372	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0192-01	TCGA-06-0192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378588.4:c.1140G>A	p.Trp380Ter	p.W380*	ENST00000378588	NM_000397.3	380	tgG/tgA	0			1			A	W/*	uc004ddr.2	protein_coding	YES	CCDS14242.1			1140/1713									central_nervous_system(1)|skin(1)	2	c.(1138-1140)TGG>TGA			Superfamily_domains:SSF63380,Gene3D:2.40.30.10,Pfam_domain:PF08022,hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF47,PROSITE_profiles:PS51384	cytochrome b-245 beta polypeptide				ENSP00000367851		13-Sep									CYBBbase_D0025:g.25056G>A,COSM2150680	13-Sep	.		ENST00000378588	Transcript	1		electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	ENSG00000165168	g.chrX:37663372G>A	2578			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,X,37663372,G,A&fts=all	W380*	--	--	1																																		CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Nonsense_Mutation_p.W348*|CYBB_uc011mkg.1_Nonsense_Mutation_p.W113*	0,1	1			p.W380*	NM_000397	NP_000388			0,1	CY24B_HUMAN	CYBB	HGNC	P04839	CY24B_HUMAN			G8Z8Y8_HUMAN,F5GWU5_HUMAN		9	1201	+			UPI0000001628	380			Cytoplasmic (Potential).|FAD-binding FR-type.		SNV	CYBB,stop_gained,p.Trp380Ter,ENST00000378588,NM_000397.3;CYBB,stop_gained,p.Trp348Ter,ENST00000545017,;CYBB,stop_gained,p.Trp113Ter,ENST00000536160,;TM4SF2,intron_variant,,ENST00000465127,;CYBB,downstream_gene_variant,,ENST00000492288,;	uc004ddr.2	c.1140G>A	1207/4324	5	2			c.1140G>A						23	SNP	c.(1138-1140)TGG>TGA	20	20			central_nervous_system(1)|skin(1)	2	Broad	cytochrome b-245 beta polypeptide			37663372		0.423	ENSG00000165168	4060	g.chrX:37663372G>A	electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity							62.965956	KEEP	10	12	-1	19	12	10	12	-1	63.245363	19	12	0.42	1	0	0	0	0	0	1	0	0	--	--		0	A			CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Nonsense_Mutation_p.W348*|CYBB_uc011mkg.1_Nonsense_Mutation_p.W113*	44	GBM-06-0192-TP	p.W380*	G	AAGATGCGTGGAAACTACCTA	NM_000397	NP_000388	37663372	P04839	CY24B_HUMAN	0			9	1201	+	A	A			Nonsense_Mutation	380			Cytoplasmic (Potential).|FAD-binding FR-type.			
CYBB	1536	broad.mit.edu	GRCh37	X	37665738	37665738	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0939-01	TCGA-06-0939-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378588.4:c.1413C>T	p.Ala471=	p.A471=	ENST00000378588	NM_000397.3	471	gcC/gcT	0			1			T	A	uc004ddr.2	protein_coding	YES	CCDS14242.1			1413/1713									central_nervous_system(1)|skin(1)	2	c.(1411-1413)GCC>GCT			Superfamily_domains:SSF52343,Gene3D:3.40.50.80,Pfam_domain:PF08030,hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF47	cytochrome b-245 beta polypeptide				ENSP00000367851		13-Nov	3.30E-05			0.000155		4.29E-05			rs782094378,COSM3406346	13-Nov	.		ENST00000378588	Transcript	1		electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	ENSG00000165168	g.chrX:37665738C>T	2578			LOW								--	--	1																																		CYBB_uc011mkf.1_Silent_p.A439A|CYBB_uc011mkg.1_Silent_p.A204A	0,1	1			p.A471A	NM_000397	NP_000388			0,1	CY24B_HUMAN	CYBB	HGNC	P04839	CY24B_HUMAN			G8Z8Y8_HUMAN,F5GWU5_HUMAN		11	1474	+			UPI0000001628	471			Cytoplasmic (Potential).		SNV	CYBB,synonymous_variant,p.=,ENST00000378588,NM_000397.3;CYBB,synonymous_variant,p.=,ENST00000545017,;CYBB,synonymous_variant,p.=,ENST00000536160,;TM4SF2,intron_variant,,ENST00000465127,;CYBB,downstream_gene_variant,,ENST00000492288,;	uc004ddr.2	c.1413C>T	1480/4324	1	1			c.1413C>T						23	SNP	c.(1411-1413)GCC>GCT	4	4			central_nervous_system(1)|skin(1)	2	Broad	cytochrome b-245 beta polypeptide			37665738		0.527	ENSG00000165168	4060	g.chrX:37665738C>T	electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity							-7.659213	KEEP	2	2	-1	35	46	2	2	-1	7.857034	35	46	0.054054	1	0	0	0	0	0	0	1	0	--	--		0	T			CYBB_uc011mkf.1_Silent_p.A439A|CYBB_uc011mkg.1_Silent_p.A204A	78	GBM-06-0939-TP	p.A471A	C	GGAACAATGCCGGCTTCCTCA	NM_000397	NP_000388	37665738	P04839	CY24B_HUMAN	0			11	1474	+	T	T			Silent	471			Cytoplasmic (Potential).			
CYBB	0	broad.mit.edu	GRCh37	X	37668843	37668843	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-28-1753-01	TCGA-28-1753-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378588.4:c.1485T>C	p.His495=	p.H495=	ENST00000378588	NM_000397.3	495	caT/caC	0			1			C	H	uc004ddr.2	protein_coding	YES	CCDS14242.1			1485/1713									central_nervous_system(1)|skin(1)	2	c.(1483-1485)CAT>CAC			Superfamily_domains:SSF52343,Gene3D:3.40.50.80,Pfam_domain:PF08030,hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF47	cytochrome b-245 beta polypeptide				ENSP00000367851		13-Dec									COSM3406347	13-Dec	.		ENST00000378588	Transcript	1		electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	ENSG00000165168	g.chrX:37668843T>C	2578			LOW								--	--	1																																		CYBB_uc011mkf.1_Silent_p.H463H|CYBB_uc011mkg.1_Silent_p.H228H	1	1			p.H495H	NM_000397	NP_000388			1	CY24B_HUMAN	CYBB	HGNC	P04839	CY24B_HUMAN			G8Z8Y8_HUMAN,F5GWU5_HUMAN		12	1546	+			UPI0000001628	495			Cytoplasmic (Potential).		SNV	CYBB,synonymous_variant,p.=,ENST00000378588,NM_000397.3;CYBB,synonymous_variant,p.=,ENST00000545017,;CYBB,synonymous_variant,p.=,ENST00000536160,;TM4SF2,intron_variant,,ENST00000465127,;	uc004ddr.2	c.1485T>C	1552/4324	3	3			c.1485T>C						23	SNP	c.(1483-1485)CAT>CAC	53	53			central_nervous_system(1)|skin(1)	2	Broad	cytochrome b-245 beta polypeptide			37668843		0.398	ENSG00000165168	4060	g.chrX:37668843T>C	electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity							5.042712	KEEP	0	2	-1	5	6	0	2	-1	6.306392	5	6	0.166667	1	0	0	0	0	0	0	1	0	--	--		0	C			CYBB_uc011mkf.1_Silent_p.H463H|CYBB_uc011mkg.1_Silent_p.H228H	207	GBM-28-1753-TP	p.H495H	T	CTGTGCACCATGATGAGGAGA	NM_000397	NP_000388	37668843	P04839	CY24B_HUMAN	0			12	1546	+	C	C			Silent	495			Cytoplasmic (Potential).			
CYC1	0	broad.mit.edu	GRCh37	8	145151572	145151572	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-14-1034-01	TCGA-14-1034-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318911.4:c.697T>A	p.Phe233Ile	p.F233I	ENST00000318911	NM_001916.3	233	Ttc/Atc	0			1			A	F/I	uc003zaz.3	protein_coding	YES	CCDS6415.1			697/978										0	c.(697-699)TTC>ATC			Prints_domain:PR00603,Superfamily_domains:SSF46626,Gene3D:1.10.760.10,Pfam_domain:PF02167,hmmpanther:PTHR10266	cytochrome c-1				ENSP00000317159		7-May									COSM2155198	7-May	.		ENST00000318911	Transcript	1		respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding	ENSG00000179091	g.chr8:145151572T>A	2579			MODERATE		2.505	medium	getma.org/?cm=msa&ty=f&p=CY1_HUMAN&rb=96&re=314&var=F233I	getma.org/pdb.php?prot=CY1_HUMAN&from=96&to=314&var=F233I	getma.org/?cm=var&var=hg19,8,145151572,T,A&fts=all	F233I	--	--	1																																		CYC1_uc003zay.2_Missense_Mutation_p.F174I	1	1		probably_damaging(0.952)	p.F233I	NM_001916	NP_001907		deleterious(0)	1	CY1_HUMAN	CYC1	HGNC	P08574	CY1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)				5	740	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		UPI000014046B	233					SNV	CYC1,missense_variant,p.Phe233Ile,ENST00000318911,NM_001916.3;SHARPIN,downstream_gene_variant,,ENST00000398712,NM_030974.3;SHARPIN,downstream_gene_variant,,ENST00000532536,;SHARPIN,downstream_gene_variant,,ENST00000533948,;SHARPIN,downstream_gene_variant,,ENST00000534242,;CYC1,non_coding_transcript_exon_variant,,ENST00000533444,;CYC1,non_coding_transcript_exon_variant,,ENST00000525122,;SHARPIN,downstream_gene_variant,,ENST00000359551,;CYC1,downstream_gene_variant,,ENST00000528618,;SHARPIN,downstream_gene_variant,,ENST00000530216,;SHARPIN,downstream_gene_variant,,ENST00000525275,;	uc003zaz.3	c.697T>A	770/1240	1	1			c.697T>A						8	SNP	c.(697-699)TTC>ATC	59	59				0	Broad	cytochrome c-1			145151572		0.582	ENSG00000179091	4062	g.chr8:145151572T>A	respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding							139.970689	KEEP	32	25	-1	41	35	32	25	-1	140.657601	41	35	0.417391	1	0	0	0	0	1	0	0	0	--	--		0	A			CYC1_uc003zay.2_Missense_Mutation_p.F174I	142	GBM-14-1034-TP	p.F233I	T	AGGTCTCTACTTCAACCCCTA	NM_001916	NP_001907	145151572	P08574	CY1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		5	740	+	A	A	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	233						
CYCS	54205	broad.mit.edu	GRCh37	7	25163649	25163649	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-02-0055-01	TCGA-02-0055-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305786.2:c.90G>A	p.Gly30=	p.G30=	ENST00000305786	NM_018947.5	30	ggG/ggA	0			1			T	G	uc003sxl.2	protein_coding	YES	CCDS5393.1			90/318									ovary(1)|lung(1)	2	c.(88-90)GGG>GGA			PROSITE_profiles:PS51007,hmmpanther:PTHR11961,Gene3D:1.10.760.10,Pfam_domain:PF00034,Superfamily_domains:SSF46626,Prints_domain:PR00604	cytochrome c	Melatonin(DB01065)|Minocycline(DB01017)			ENSP00000307786		3-Feb									COSM3411950	3-Feb	.		ENST00000305786	Transcript	1		activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis by intracellular signals|respiratory electron transport chain|transport	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|mitochondrial matrix|nucleus|protein phosphatase type 2A complex|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding|protein binding	ENSG00000172115	g.chr7:25163649C>T	19986			LOW								--	--	1																																			1	1			p.G30G	NM_018947	NP_061820			1	CYC_HUMAN	CYCS	HGNC	P99999	CYC_HUMAN			Q6LER6_HUMAN,G4XXL9_HUMAN,C9JFR7_HUMAN		2	235	-			UPI000013EAA0	30					SNV	CYCS,synonymous_variant,p.=,ENST00000305786,NM_018947.5;CYCS,synonymous_variant,p.=,ENST00000409409,;CYCS,synonymous_variant,p.=,ENST00000409764,;CYCS,synonymous_variant,p.=,ENST00000413447,;	uc003sxl.2	c.90G>A	260/4098	1	1			c.90G>A						7	SNP	c.(88-90)GGG>GGA	8	8			ovary(1)|lung(1)	2	Broad	cytochrome c		Melatonin(DB01065)|Minocycline(DB01017)	25163649		0.443	ENSG00000172115	4063	g.chr7:25163649C>T	activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis by intracellular signals|respiratory electron transport chain|transport	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|mitochondrial matrix|nucleus|protein phosphatase type 2A complex|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding|protein binding			46			46	-30.976221	KEEP	3	1	-1	76	79	3	1	-1	6.880306	76	79	0.026144	1	0	0	0	0	0	0	1	0	--	--		0	T				4	GBM-02-0055-TP	p.G30G	C	GGAGATTTGGCCCAGTCTTGT	NM_018947	NP_061820	25163649	P99999	CYC_HUMAN	0			2	235	-	T	T			Silent	30						
CYCTP	0	broad.mit.edu	GRCh37	2	178969184	178969184	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C			TCGA-16-0861-01	TCGA-16-0861-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504253.1:n.14A>G		*5*	ENST00000504253				0			1			C		uc002ulr.2	unitary_pseudogene	YES													ovary(3)|large_intestine(1)	4	c.(7-9)AAG>GAG				phosphodiesterase 11A isoform 3						3-Jan									COSM3407078	3-Jan	.	Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial	ENST00000504253	Transcript			platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	ENSG00000249909	g.chr2:178969184T>C	24424			MODIFIER								--	--	1																																		PDE11A_uc002ult.1_Missense_Mutation_p.K3E	1	1			p.K3E	NM_001077197	NP_001070665			1		CYCTP	HGNC	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)				2	106	-				Error:Variant_position_missing_in_Q9HCR9_after_alignment					SNV	PDE11A,missense_variant,p.Lys3Glu,ENST00000358450,NM_001077197.1;CYCTP,non_coding_transcript_exon_variant,,ENST00000504253,;AC011998.4,upstream_gene_variant,,ENST00000433403,;	uc002ulr.2	c.7A>G	14/315	3	3			c.7A>G						2	SNP	c.(7-9)AAG>GAG	54	54			ovary(3)|large_intestine(1)	4	Broad	phosphodiesterase 11A isoform 3			178969184	Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial	0.408	ENSG00000249909	11439	g.chr2:178969184T>C	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding							-40.161792	KEEP	1	3	-1	115	102	1	3	-1	7.152895	115	102	0.021622	1	0	0	0	0	1	0	0	0	--	--		0	C			PDE11A_uc002ult.1_Missense_Mutation_p.K3E	156	GBM-16-0861-TP	p.K3E	T	CTTGCCTGCTTCAGCATCTCC	NM_001077197	NP_001070665	178969184	Q9HCR9	PDE11_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		2	106	-	C	C			Missense_Mutation	Error:Variant_position_missing_in_Q9HCR9_after_alignment						
CYLC1	1538	broad.mit.edu	GRCh37	X	83128394	83128394	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2559-01	TCGA-06-2559-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329312.4:c.678G>A	p.Arg226=	p.R226=	ENST00000329312	NM_021118.2	226	agG/agA	0			1			A	R	uc004eei.1	protein_coding	YES	CCDS35341.1			678/1956									ovary(4)|skin(1)	5	c.(676-678)AGG>AGA			hmmpanther:PTHR16742,hmmpanther:PTHR16742:SF1	cylicin, basic protein of sperm head				ENSP00000331556		5-Apr									COSM3406626,COSM3406625	5-Apr	.		ENST00000329312	Transcript			cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	ENSG00000183035	g.chrX:83128394G>A	2582			LOW								--	--	1																																		CYLC1_uc004eeh.1_Silent_p.R225R	1,1	1			p.R226R	NM_021118	NP_066941			1,1	CYLC1_HUMAN	CYLC1	HGNC	P35663	CYLC1_HUMAN					4	699	+			UPI0000251E1D	226					SNV	CYLC1,synonymous_variant,p.=,ENST00000329312,NM_021118.2;	uc004eei.1	c.678G>A	715/2106	2	2			c.678G>A						23	SNP	c.(676-678)AGG>AGA	45	45			ovary(4)|skin(1)	5	Broad	cylicin, basic protein of sperm head			83128394		0.318	ENSG00000183035	4068	g.chrX:83128394G>A	cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity							0.795057	KEEP	0	3	-1	19	17	0	3	-1	7.148282	19	17	0.083333	1	0	0	0	0	0	0	1	0	--	--		0	A			CYLC1_uc004eeh.1_Silent_p.R225R	83	GBM-06-2559-TP	p.R226R	G	ATTTGAAGAGGTCAAAGACTA	NM_021118	NP_066941	83128394	P35663	CYLC1_HUMAN	0			4	699	+	A	A			Silent	226						
CYLC1	0	broad.mit.edu	GRCh37	X	83128534	83128534	+	stop_gained	Nonsense_Mutation	SNP	C	C	G			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329312.4:c.818C>G	p.Ser273Ter	p.S273*	ENST00000329312	NM_021118.2	273	tCa/tGa	0			1			G	S/*	uc004eei.1	protein_coding	YES	CCDS35341.1			818/1956									ovary(4)|skin(1)	5	c.(817-819)TCA>TGA			hmmpanther:PTHR16742,hmmpanther:PTHR16742:SF1,Low_complexity_(Seg):seg	cylicin, basic protein of sperm head				ENSP00000331556		5-Apr									COSM3406628,COSM3406627	5-Apr	.		ENST00000329312	Transcript			cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	ENSG00000183035	g.chrX:83128534C>G	2582			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,X,83128534,C,G&fts=all	S273*	--	--	1																																		CYLC1_uc004eeh.1_Nonsense_Mutation_p.S272*	1,1	1			p.S273*	NM_021118	NP_066941			1,1	CYLC1_HUMAN	CYLC1	HGNC	P35663	CYLC1_HUMAN					4	839	+			UPI0000251E1D	273					SNV	CYLC1,stop_gained,p.Ser273Ter,ENST00000329312,NM_021118.2;	uc004eei.1	c.818C>G	855/2106	5	4			c.818C>G						23	SNP	c.(817-819)TCA>TGA	17	17			ovary(4)|skin(1)	5	Broad	cylicin, basic protein of sperm head			83128534		0.318	ENSG00000183035	4068	g.chrX:83128534C>G	cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity							1.294143	KEEP	0	3	-1	17	17	0	3	-1	7.138153	17	17	0.088235	1	0	0	0	0	0	1	0	0	--	--		0	G			CYLC1_uc004eeh.1_Nonsense_Mutation_p.S272*	160	GBM-19-1790-TP	p.S273*	C	CAGAATAATTCAAAGAATTAT	NM_021118	NP_066941	83128534	P35663	CYLC1_HUMAN	0			4	839	+	G	G			Nonsense_Mutation	273						
CYLC2	1539	broad.mit.edu	GRCh37	9	105767006	105767006	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-6390-01	TCGA-06-6390-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374798.3:c.210T>C	p.Asp70=	p.D70=	ENST00000374798	NM_001340.3	70	gaT/gaC	0			1			C	D	uc004bbs.2	protein_coding	YES	CCDS35085.1			210/1047									skin(1)	1	c.(208-210)GAT>GAC			hmmpanther:PTHR16742,Pfam_domain:PF15241	cylicin 2				ENSP00000420256		8-Apr										8-Apr	.		ENST00000374798	Transcript			cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	ENSG00000155833	g.chr9:105767006T>C	2583			LOW								--	--	1																																				1			p.D70D	NM_001340	NP_001331				CYLC2_HUMAN	CYLC2	HGNC	Q14093	CYLC2_HUMAN					4	280	+		all_hematologic(171;0.125)	UPI0000128C36	70			31 X 3 AA repeats of K-K-X.		SNV	CYLC2,synonymous_variant,p.=,ENST00000374798,NM_001340.3;CYLC2,synonymous_variant,p.=,ENST00000487798,;	uc004bbs.2	c.210T>C	280/2171	3	3			c.210T>C						9	SNP	c.(208-210)GAT>GAC	53	53			skin(1)	1	Broad	cylicin 2			105767006		0.358	ENSG00000155833	4069	g.chr9:105767006T>C	cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton							26.840425	KEEP	2	11	-1	38	33	2	11	-1	33.804131	38	33	0.173913	1	0	0	0	0	0	0	1	0	--	--		0	C				106	GBM-06-6390-TP	p.D70D	T	TAAGAGGAGATCGTAGACAAC	NM_001340	NP_001331	105767006	Q14093	CYLC2_HUMAN	0			4	280	+	C	C		all_hematologic(171;0.125)	Silent	70			31 X 3 AA repeats of K-K-X.			
CYLC2	0	broad.mit.edu	GRCh37	9	105763888	105763888	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-76-4925-01	TCGA-76-4925-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374798.3:c.46A>T	p.Asn16Tyr	p.N16Y	ENST00000374798	NM_001340.3	16	Aat/Tat	0			1			T	N/Y	uc004bbs.2	protein_coding	YES	CCDS35085.1			46/1047									skin(1)	1	c.(46-48)AAT>TAT			hmmpanther:PTHR16742,Pfam_domain:PF15241	cylicin 2				ENSP00000420256		8-Feb									COSM2157485	8-Feb	.		ENST00000374798	Transcript			cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	ENSG00000155833	g.chr9:105763888A>T	2583			MODERATE		2.33	medium	getma.org/?cm=msa&ty=f&p=CYLC2_HUMAN&rb=1&re=100&var=N16Y	NA	getma.org/?cm=var&var=hg19,9,105763888,A,T&fts=all	N16Y	--	--	1																																			1	1		probably_damaging(0.998)	p.N16Y	NM_001340	NP_001331		deleterious(0)	1	CYLC2_HUMAN	CYLC2	HGNC	Q14093	CYLC2_HUMAN					2	116	+		all_hematologic(171;0.125)	UPI0000128C36	16					SNV	CYLC2,missense_variant,p.Asn16Tyr,ENST00000374798,NM_001340.3;CYLC2,missense_variant,p.Asn16Tyr,ENST00000487798,;	uc004bbs.2	c.46A>T	116/2171	2	2			c.46A>T						9	SNP	c.(46-48)AAT>TAT	34	34			skin(1)	1	Broad	cylicin 2			105763888		0.259	ENSG00000155833	4069	g.chr9:105763888A>T	cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton							97.85908	KEEP	24	16	-1	28	24	24	16	-1	98.202153	28	24	0.428571	1	0	0	0	0	1	0	0	0	--	--		0	T				265	GBM-76-4925-TP	p.N16Y	A	GCCATATGATAATTACATTCC	NM_001340	NP_001331	105763888	Q14093	CYLC2_HUMAN	0			2	116	+	T	T		all_hematologic(171;0.125)	Missense_Mutation	16						
CYLC2	1539		GRCh37	9	105767035	105767035	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000374798.3:c.239del	p.Ser80PhefsTer2	p.S80Ffs*2	ENST00000374798	NM_001340.3	80	tCt/tt	0																																																																																																																																																																																																																																												
CYLD	1540	broad.mit.edu	GRCh37	16	50788289	50788289	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0190-01	TCGA-06-0190-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398568.2:c.867G>A	p.Ala289=	p.A289=	ENST00000398568	NM_001042412.1	289	gcG/gcA	0			1			A	A	uc002egp.1	protein_coding		CCDS45482.1			867/2871	Mis|N|F|S			cylindroma	cylindroma			p.A289A(1)	skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28	c.(865-867)GCG>GCA			Gene3D:2.30.30.190,Pfam_domain:PF01302,hmmpanther:PTHR11830,hmmpanther:PTHR11830:SF3,SMART_domains:SM01052,Superfamily_domains:SSF74924	ubiquitin carboxyl-terminal hydrolase CYLD				ENSP00000308928		20-Jun	4.14E-05		0.000349			1.51E-05			rs778051762,COSM35757	20-Jun	.	Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial	ENST00000311559	Transcript	1		cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	ENSG00000083799	g.chr16:50788289G>A	2584			LOW								--	--	1																																		CYLD_uc002egn.1_Silent_p.A289A|CYLD_uc002ego.2_Silent_p.A289A|CYLD_uc010cbs.1_Silent_p.A289A|CYLD_uc002egq.1_Silent_p.A289A|CYLD_uc002egr.1_Silent_p.A289A|CYLD_uc002egs.1_Silent_p.A289A	0,1				p.A289A	NM_015247	NP_056062			0,1	CYLD_HUMAN	CYLD	HGNC	Q9NQC7	CYLD_HUMAN			H3BTB8_HUMAN,H3BSW9_HUMAN,H3BPZ5_HUMAN		6	1282	+		all_cancers(37;0.0156)	UPI0000073A15	289			Interaction with TRIP.		SNV	CYLD,synonymous_variant,p.=,ENST00000540145,;CYLD,synonymous_variant,p.=,ENST00000427738,;CYLD,synonymous_variant,p.=,ENST00000311559,NM_015247.2;CYLD,synonymous_variant,p.=,ENST00000398568,NM_001042412.1;CYLD,synonymous_variant,p.=,ENST00000569418,NM_001042355.1;CYLD,synonymous_variant,p.=,ENST00000568704,;CYLD,synonymous_variant,p.=,ENST00000564326,;CYLD,synonymous_variant,p.=,ENST00000566206,;CYLD,synonymous_variant,p.=,ENST00000566679,;CYLD,downstream_gene_variant,,ENST00000569681,;CYLD,downstream_gene_variant,,ENST00000564634,;CYLD,non_coding_transcript_exon_variant,,ENST00000569891,;CYLD,non_coding_transcript_exon_variant,,ENST00000563629,;	uc002egp.1	c.867G>A	1258/5371	2	2			c.867G>A	Mis|N|F|S			cylindroma	cylindroma	16	SNP	c.(865-867)GCG>GCA	26	26		p.A289A(1)	skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28	Broad	ubiquitin carboxyl-terminal hydrolase CYLD			50788289	Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial	0.303	ENSG00000083799	4070	g.chr16:50788289G>A	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			247			247	58.911401	KEEP	12	14	-1	31	41	12	14	-1	63.052431	31	41	0.26506	1	0	0	0	0	0	0	1	0	--	--		0	A			CYLD_uc002egn.1_Silent_p.A289A|CYLD_uc002ego.2_Silent_p.A289A|CYLD_uc010cbs.1_Silent_p.A289A|CYLD_uc002egq.1_Silent_p.A289A|CYLD_uc002egr.1_Silent_p.A289A|CYLD_uc002egs.1_Silent_p.A289A	43	GBM-06-0190-TP	p.A289A	G	GTAGTTTTGCGTGTGTTGAAA	NM_015247	NP_056062	50788289	Q9NQC7	CYLD_HUMAN	0			6	1282	+	A	A		all_cancers(37;0.0156)	Silent	289			Interaction with TRIP.			
CYLD	1540	broad.mit.edu	GRCh37	16	50783900	50783900	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0649-01	TCGA-06-0649-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398568.2:c.291A>G	p.Thr97=	p.T97=	ENST00000398568	NM_001042412.1	97	acA/acG	0			1			G	T	uc002egp.1	protein_coding		CCDS45482.1			291/2871	Mis|N|F|S			cylindroma	cylindroma				skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28	c.(289-291)ACA>ACG			hmmpanther:PTHR11830,hmmpanther:PTHR11830:SF3,Superfamily_domains:SSF74924	ubiquitin carboxyl-terminal hydrolase CYLD				ENSP00000308928		20-Apr									COSM2151526	20-Apr	.	Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial	ENST00000311559	Transcript	1		cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	ENSG00000083799	g.chr16:50783900A>G	2584			LOW								--	--	1																																		CYLD_uc002egn.1_Silent_p.T97T|CYLD_uc002ego.2_Silent_p.T97T|CYLD_uc010cbs.1_Silent_p.T97T|CYLD_uc002egq.1_Silent_p.T97T|CYLD_uc002egr.1_Silent_p.T97T|CYLD_uc002egs.1_Silent_p.T97T	1				p.T97T	NM_015247	NP_056062			1	CYLD_HUMAN	CYLD	HGNC	Q9NQC7	CYLD_HUMAN			H3BTB8_HUMAN,H3BSW9_HUMAN,H3BPZ5_HUMAN		4	706	+		all_cancers(37;0.0156)	UPI0000073A15	97					SNV	CYLD,synonymous_variant,p.=,ENST00000540145,;CYLD,synonymous_variant,p.=,ENST00000427738,;CYLD,synonymous_variant,p.=,ENST00000311559,NM_015247.2;CYLD,synonymous_variant,p.=,ENST00000398568,NM_001042412.1;CYLD,synonymous_variant,p.=,ENST00000569418,NM_001042355.1;CYLD,synonymous_variant,p.=,ENST00000568704,;CYLD,synonymous_variant,p.=,ENST00000564326,;CYLD,synonymous_variant,p.=,ENST00000566206,;CYLD,synonymous_variant,p.=,ENST00000566679,;CYLD,synonymous_variant,p.=,ENST00000569681,;CYLD,downstream_gene_variant,,ENST00000564634,;CYLD,non_coding_transcript_exon_variant,,ENST00000569891,;CYLD,non_coding_transcript_exon_variant,,ENST00000563629,;	uc002egp.1	c.291A>G	682/5371	3	3			c.291A>G	Mis|N|F|S			cylindroma	cylindroma	16	SNP	c.(289-291)ACA>ACG	6	6			skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28	Broad	ubiquitin carboxyl-terminal hydrolase CYLD			50783900	Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial	0.378	ENSG00000083799	4070	g.chr16:50783900A>G	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			247			247	114.632877	KEEP	26	18	-1	58	55	26	18	-1	120.925147	58	55	0.280822	1	0	0	0	0	0	0	1	0	--	--		0	G			CYLD_uc002egn.1_Silent_p.T97T|CYLD_uc002ego.2_Silent_p.T97T|CYLD_uc010cbs.1_Silent_p.T97T|CYLD_uc002egq.1_Silent_p.T97T|CYLD_uc002egr.1_Silent_p.T97T|CYLD_uc002egs.1_Silent_p.T97T	62	GBM-06-0649-TP	p.T97T	A	AAAAGTTCACAGAGTTACTTT	NM_015247	NP_056062	50783900	Q9NQC7	CYLD_HUMAN	0			4	706	+	G	G		all_cancers(37;0.0156)	Silent	97						
CYLD	0	broad.mit.edu	GRCh37	16	50815179	50815179	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01	TCGA-19-2623-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311559.9:c.1541C>T	p.Thr514Met	p.T514M	ENST00000311559	NM_015247.2	514	aCg/aTg	0			1			T	T/M	uc002egp.1	protein_coding		CCDS45482.1			1541/2871	Mis|N|F|S			cylindroma	cylindroma			p.T514fs*29(1)	skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28	c.(1540-1542)ACG>ATG			Gene3D:2.30.30.190,Pfam_domain:PF01302,PROSITE_profiles:PS50245,hmmpanther:PTHR11830,hmmpanther:PTHR11830:SF3,SMART_domains:SM01052,Superfamily_domains:SSF74924	ubiquitin carboxyl-terminal hydrolase CYLD				ENSP00000308928		20-Nov	8.27E-06					1.50E-05			rs761903963,COSM3402351	20-Nov	.	Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial	ENST00000311559	Transcript	1		cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	ENSG00000083799	g.chr16:50815179C>T	2584			MODERATE		2.08	medium	getma.org/?cm=msa&ty=f&p=CYLD_HUMAN&rb=472&re=540&var=T514M	getma.org/pdb.php?prot=CYLD_HUMAN&from=472&to=540&var=T514M	getma.org/?cm=var&var=hg19,16,50815179,C,T&fts=all	T514M	--	--	1																																		CYLD_uc002ego.2_Missense_Mutation_p.T511M|CYLD_uc010cbs.1_Missense_Mutation_p.T511M|CYLD_uc002egq.1_Missense_Mutation_p.T511M|CYLD_uc002egr.1_Missense_Mutation_p.T511M|CYLD_uc002egs.1_Missense_Mutation_p.T511M	0,1			probably_damaging(1)	p.T514M	NM_015247	NP_056062		deleterious(0)	0,1	CYLD_HUMAN	CYLD	HGNC	Q9NQC7	CYLD_HUMAN			H3BTB8_HUMAN,H3BSW9_HUMAN,H3BPZ5_HUMAN		10	1956	+		all_cancers(37;0.0156)	UPI0000073A15	514			CAP-Gly 3.|Interaction with TRIP.|Interaction with IKBKG/NEMO.		SNV	CYLD,missense_variant,p.Thr514Met,ENST00000540145,;CYLD,missense_variant,p.Thr514Met,ENST00000427738,;CYLD,missense_variant,p.Thr514Met,ENST00000311559,NM_015247.2;CYLD,missense_variant,p.Thr511Met,ENST00000398568,NM_001042412.1;CYLD,missense_variant,p.Thr511Met,ENST00000569418,NM_001042355.1;CYLD,missense_variant,p.Thr511Met,ENST00000564326,;CYLD,missense_variant,p.Thr511Met,ENST00000566206,;CYLD,intron_variant,,ENST00000568704,;RP11-327F22.4,downstream_gene_variant,,ENST00000564510,;RP11-327F22.4,downstream_gene_variant,,ENST00000575917,;CYLD,non_coding_transcript_exon_variant,,ENST00000569891,;CYLD,non_coding_transcript_exon_variant,,ENST00000563629,;CYLD,downstream_gene_variant,,ENST00000563976,;	uc002egp.1	c.1541C>T	1932/5371	2	2			c.1541C>T	Mis|N|F|S			cylindroma	cylindroma	16	SNP	c.(1540-1542)ACG>ATG	45	45		p.T514fs*29(1)	skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28	Broad	ubiquitin carboxyl-terminal hydrolase CYLD			50815179	Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial	0.453	ENSG00000083799	4070	g.chr16:50815179C>T	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			247			247	162.240218	KEEP	27	34	-1	70	70	27	34	-1	167.14435	70	70	0.321839	1	0	0	0	0	1	0	0	0	--	--		0	T			CYLD_uc002ego.2_Missense_Mutation_p.T511M|CYLD_uc010cbs.1_Missense_Mutation_p.T511M|CYLD_uc002egq.1_Missense_Mutation_p.T511M|CYLD_uc002egr.1_Missense_Mutation_p.T511M|CYLD_uc002egs.1_Missense_Mutation_p.T511M	163	GBM-19-2623-TP	p.T514M	C	GCAGGCTGTACGGATGGAACC	NM_015247	NP_056062	50815179	Q9NQC7	CYLD_HUMAN	0			10	1956	+	T	T		all_cancers(37;0.0156)	Missense_Mutation	514			CAP-Gly 3.|Interaction with TRIP.|Interaction with IKBKG/NEMO.			
CYP11A1	1583	broad.mit.edu	GRCh37	15	74635350	74635350	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5408-01	TCGA-06-5408-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268053.6:c.958G>A	p.Val320Ile	p.V320I	ENST00000268053	NM_000781.2	320	Gtc/Atc	0			1			T	V/I	uc002axt.2	protein_coding	YES	CCDS32291.1			958/1566									ovary(2)	2	c.(958-960)GTC>ATC			Gene3D:1.10.630.10,Pfam_domain:PF00067,Prints_domain:PR00463,hmmpanther:PTHR24279,hmmpanther:PTHR24279:SF3,Superfamily_domains:SSF48264	cytochrome P450, family 11, subfamily A,	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)			ENSP00000268053		9-May									COSM1938463	9-May	.		ENST00000268053	Transcript	1		C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	ENSG00000140459	g.chr15:74635350C>T	2590			MODERATE		0.48	neutral	getma.org/?cm=msa&ty=f&p=CP11A_HUMAN&rb=52&re=511&var=V320I	getma.org/pdb.php?prot=CP11A_HUMAN&from=52&to=511&var=V320I	getma.org/?cm=var&var=hg19,15,74635350,C,T&fts=all	V320I	--	--	1																																		CYP11A1_uc002axs.2_Missense_Mutation_p.V162I|CYP11A1_uc010bjm.1_Missense_Mutation_p.V162I|CYP11A1_uc010bjn.1_RNA|CYP11A1_uc010bjo.1_Missense_Mutation_p.V320I|CYP11A1_uc010bjp.1_Intron|CYP11A1_uc010ulj.1_Missense_Mutation_p.V100I	1	1		benign(0.014)	p.V320I	NM_000781	NP_000772		tolerated(1)	1	CP11A_HUMAN	CYP11A1	HGNC	P05108	CP11A_HUMAN			Q2HZF3_HUMAN,H3BSZ1_HUMAN,H3BS93_HUMAN,C9JPU9_HUMAN		5	1113	-			UPI00000725F7	320					SNV	CYP11A1,missense_variant,p.Val162Ile,ENST00000358632,NM_001099773.1;CYP11A1,missense_variant,p.Val320Ile,ENST00000268053,NM_000781.2;CYP11A1,missense_variant,p.Val162Ile,ENST00000419019,;CYP11A1,missense_variant,p.Val162Ile,ENST00000566674,;CYP11A1,3_prime_UTR_variant,,ENST00000541301,;CYP11A1,downstream_gene_variant,,ENST00000450547,;CYP11A1,downstream_gene_variant,,ENST00000569662,;CYP11A1,downstream_gene_variant,,ENST00000416978,;CYP11A1,missense_variant,p.Val320Ile,ENST00000435365,;CYP11A1,downstream_gene_variant,,ENST00000466978,;CYP11A1,upstream_gene_variant,,ENST00000498141,;	uc002axt.2	c.958G>A	1113/1934	1	1			c.958G>A						15	SNP	c.(958-960)GTC>ATC	8	8			ovary(2)	2	Broad	cytochrome P450, family 11, subfamily A,		Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	74635350		0.602	ENSG00000140459	4071	g.chr15:74635350C>T	C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	Esophageal Squamous(87;818 1337 4093 9268 37314)			Esophageal Squamous(87;818 1337 4093 9268 37314)			171.156559	KEEP	30	34	-1	24	51	30	34	-1	171.293294	24	51	0.46281	1	0	0	0	0	1	0	0	0	--	--		0	T			CYP11A1_uc002axs.2_Missense_Mutation_p.V162I|CYP11A1_uc010bjm.1_Missense_Mutation_p.V162I|CYP11A1_uc010bjn.1_RNA|CYP11A1_uc010bjo.1_Missense_Mutation_p.V320I|CYP11A1_uc010bjp.1_Intron|CYP11A1_uc010ulj.1_Missense_Mutation_p.V100I	92	GBM-06-5408-TP	p.V320I	C	ATCTCTGTGACGTTGGCCTTG	NM_000781	NP_000772	74635350	P05108	CP11A_HUMAN	0			5	1113	-	T	T			Missense_Mutation	320						
CYP11B1	0	broad.mit.edu	GRCh37	8	143956491	143956491	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-6698-01	TCGA-06-6698-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000292427.4:c.1280G>C	p.Arg427Pro	p.R427P	ENST00000292427	NM_000497.3	427	cGc/cCc	0			1			G	R/P	uc003yxi.2	protein_coding	YES	CCDS6392.1			1280/1512									ovary(3)	3	c.(1279-1281)CGC>CCC			hmmpanther:PTHR24279:SF46,hmmpanther:PTHR24279,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	cytochrome P450, family 11, subfamily B,	Mitotane(DB00648)			ENSP00000292427		9-Aug									COSM3412799	9-Aug	.	Familial_Hyperaldosteronism_type_I	ENST00000292427	Transcript	1		aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	ENSG00000160882	g.chr8:143956491C>G	2591			MODERATE		4.125	high	getma.org/?cm=msa&ty=f&p=C11B1_HUMAN&rb=42&re=498&var=R427P	getma.org/pdb.php?prot=C11B1_HUMAN&from=42&to=498&var=R427P	getma.org/?cm=var&var=hg19,8,143956491,C,G&fts=all	R427P	--	--	1																																		CYP11B1_uc010mex.2_Missense_Mutation_p.R126P|CYP11B1_uc003yxh.2_Intron|CYP11B1_uc003yxj.2_Intron|CYP11B1_uc010mey.2_Missense_Mutation_p.R498P	1	1		probably_damaging(0.999)	p.R427P	NM_000497	NP_000488		deleterious(0)	1	C11B1_HUMAN	CYP11B1	HGNC	P15538	C11B1_HUMAN			Q8TE40_HUMAN,Q8TE38_HUMAN		8	1287	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		UPI000013E0BA	427					SNV	CYP11B1,missense_variant,p.Arg427Pro,ENST00000292427,NM_000497.3;CYP11B1,missense_variant,p.Arg105Pro,ENST00000519285,;CYP11B1,missense_variant,p.Arg498Pro,ENST00000377675,;CYP11B1,intron_variant,,ENST00000517471,NM_001026213.1;GML,intron_variant,,ENST00000522728,;CYP11B1,intron_variant,,ENST00000314111,;	uc003yxi.2	c.1280G>C	1313/2664	4	4			c.1280G>C						8	SNP	c.(1279-1281)CGC>CCC	19	19			ovary(3)	3	Broad	cytochrome P450, family 11, subfamily B,		Mitotane(DB00648)	143956491	Familial_Hyperaldosteronism_type_I	0.647	ENSG00000160882	4072	g.chr8:143956491C>G	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity							17.581123	KEEP	3	10	-1	56	50	3	10	-1	32.683451	56	50	0.115385	1	0	0	0	0	1	0	0	0	--	--		0	G			CYP11B1_uc010mex.2_Missense_Mutation_p.R126P|CYP11B1_uc003yxh.2_Intron|CYP11B1_uc003yxj.2_Intron|CYP11B1_uc010mey.2_Missense_Mutation_p.R498P	112	GBM-06-6698-TP	p.R427P	C	GTCTAGCCAGCGCTGGGGGTT	NM_000497	NP_000488	143956491	P15538	C11B1_HUMAN	0			8	1287	-	G	G	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	427						
CYP11B1	0	broad.mit.edu	GRCh37	8	143960555	143960555	+	synonymous_variant	Silent	SNP	G	G	A	rs5284		TCGA-26-6173-01	TCGA-26-6173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000292427.4:c.288C>T	p.Asp96=	p.D96=	ENST00000292427	NM_000497.3	96	gaC/gaT	0	A:0	A:0.0008	1	A:0		A	D	uc003yxi.2	protein_coding	YES	CCDS6392.1			288/1512									ovary(3)	3	c.(286-288)GAC>GAT			hmmpanther:PTHR24279:SF46,hmmpanther:PTHR24279,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	cytochrome P450, family 11, subfamily B,	Mitotane(DB00648)	A:0	A:0.0006	ENSP00000292427	A:0	9-Feb	0.000181	9.61E-05	0.000173			0.000135		0.000606	rs5284,COSM604475	9-Feb	common_variant	Familial_Hyperaldosteronism_type_I	ENST00000292427	Transcript	1	A:0.0004	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	ENSG00000160882	g.chr8:143960555G>A	2591			LOW								--	--	1																																		CYP11B1_uc003yxh.2_5'Flank|CYP11B1_uc003yxj.2_Silent_p.D96D|CYP11B1_uc010mey.2_Silent_p.D141D	0,1	1			p.D96D	NM_000497	NP_000488	A:0.001		0,1	C11B1_HUMAN	CYP11B1	HGNC	P15538	C11B1_HUMAN			Q8TE40_HUMAN,Q8TE38_HUMAN		2	295	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		UPI000013E0BA	96					SNV	CYP11B1,synonymous_variant,p.=,ENST00000292427,NM_000497.3;CYP11B1,synonymous_variant,p.=,ENST00000377675,;CYP11B1,synonymous_variant,p.=,ENST00000517471,NM_001026213.1;GML,intron_variant,,ENST00000522728,;CYP11B1,upstream_gene_variant,,ENST00000519285,;CYP11B1,non_coding_transcript_exon_variant,,ENST00000314111,;	uc003yxi.2	c.288C>T	321/2664	1	1			c.288C>T						8	SNP	c.(286-288)GAC>GAT	55	55			ovary(3)	3	Broad	cytochrome P450, family 11, subfamily B,		Mitotane(DB00648)	143960555	Familial_Hyperaldosteronism_type_I	0.627	ENSG00000160882	4072	g.chr8:143960555G>A	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity							96.405578	KEEP	13	25	-1	28	32	13	25	-1	97.46664	28	32	0.384615	1	0	0	0	0	0	0	1	0	--	--		0	A			CYP11B1_uc003yxh.2_5'Flank|CYP11B1_uc003yxj.2_Silent_p.D96D|CYP11B1_uc010mey.2_Silent_p.D141D	187	GBM-26-6173-TP	p.D96D	G	GCTTCTCCACGTCCTCCGGCA	NM_000497	NP_000488	143960555	P15538	C11B1_HUMAN	0			2	295	-	A	A	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		Silent	96						
CYP11B2	0	broad.mit.edu	GRCh37	8	143994857	143994857	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1834-01	TCGA-27-1834-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323110.2:c.965C>T	p.Pro322Leu	p.P322L	ENST00000323110	NM_000498.3	322	cCc/cTc	0			1			A	P/L	uc003yxk.1	protein_coding	YES	CCDS6393.1			965/1512										0	c.(964-966)CCC>CTC			hmmpanther:PTHR24279:SF46,hmmpanther:PTHR24279,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00385	cytochrome P450, family 11, subfamily B,	Candesartan(DB00796)|Metyrapone(DB01011)			ENSP00000325822		9-Jun									COSM3412800	9-Jun	.	Familial_Hyperaldosteronism_type_I	ENST00000323110	Transcript	1		aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	ENSG00000179142	g.chr8:143994857G>A	2592			MODERATE		1.22	low	getma.org/?cm=msa&ty=f&p=C11B2_HUMAN&rb=42&re=499&var=P322L	getma.org/pdb.php?prot=C11B2_HUMAN&from=42&to=499&var=P322L	getma.org/?cm=var&var=hg19,8,143994857,G,A&fts=all	P322L	--	--	1																																			1	1		probably_damaging(0.982)	p.P322L	NM_000498	NP_000489		deleterious(0)	1	C11B2_HUMAN	CYP11B2	HGNC	P19099	C11B2_HUMAN			Q14098_HUMAN		6	968	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		UPI00001282CF	322					SNV	CYP11B2,missense_variant,p.Pro322Leu,ENST00000323110,NM_000498.3;GML,intron_variant,,ENST00000522728,;	uc003yxk.1	c.965C>T	968/2936	1	1			c.965C>T						8	SNP	c.(964-966)CCC>CTC	54	54				0	Broad	cytochrome P450, family 11, subfamily B,		Candesartan(DB00796)|Metyrapone(DB01011)	143994857	Familial_Hyperaldosteronism_type_I	0.632	ENSG00000179142	4073	g.chr8:143994857G>A	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity							52.587505	KEEP	9	19	-1	43	49	9	19	-1	59.538916	43	49	0.21875	1	0	0	0	0	1	0	0	0	--	--		0	A				193	GBM-27-1834-TP	p.P322L	G	CATCAGCAAGGGAAACGCTGT	NM_000498	NP_000489	143994857	P19099	C11B2_HUMAN	0			6	968	-	A	A	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	322						
CYP11B2	0	broad.mit.edu	GRCh37	8	143999226	143999226	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4926-01	TCGA-76-4926-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323110.2:c.31G>A	p.Val11Met	p.V11M	ENST00000323110	NM_000498.3	11	Gtg/Atg	0		T:0	1	T:0		T	V/M	uc003yxk.1	protein_coding	YES	CCDS6393.1			31/1512										0	c.(31-33)GTG>ATG			hmmpanther:PTHR24279:SF46,hmmpanther:PTHR24279	cytochrome P450, family 11, subfamily B,	Candesartan(DB00796)|Metyrapone(DB01011)	T:0.001		ENSP00000325822	T:0	9-Jan	3.29E-05	9.63E-05		0.000232		1.50E-05			rs574581657,COSM1552038	9-Jan	.	Familial_Hyperaldosteronism_type_I	ENST00000323110	Transcript	1	T:0.0002	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	ENSG00000179142	g.chr8:143999226C>T	2592			MODERATE		-1.1	neutral	getma.org/?cm=msa&ty=f&p=C11B2_HUMAN&rb=1&re=41&var=V11M	NA	getma.org/?cm=var&var=hg19,8,143999226,C,T&fts=all	V11M	--	--	1																																			0,1	1		benign(0.001)	p.V11M	NM_000498	NP_000489	T:0	tolerated(0.37)	0,1	C11B2_HUMAN	CYP11B2	HGNC	P19099	C11B2_HUMAN			Q14098_HUMAN		1	34	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		UPI00001282CF	11					SNV	CYP11B2,missense_variant,p.Val11Met,ENST00000323110,NM_000498.3;GML,downstream_gene_variant,,ENST00000522728,;	uc003yxk.1	c.31G>A	34/2936	1	1			c.31G>A						8	SNP	c.(31-33)GTG>ATG	1	1				0	Broad	cytochrome P450, family 11, subfamily B,		Candesartan(DB00796)|Metyrapone(DB01011)	143999226	Familial_Hyperaldosteronism_type_I	0.612	ENSG00000179142	4073	g.chr8:143999226C>T	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity							308.409422	KEEP	65	72	-1	107	95	65	72	-1	311.55948	107	95	0.391447	1	0	0	0	0	1	0	0	0	--	--		0	T				266	GBM-76-4926-TP	p.V11M	C	GGCGCTGCCACGCACACCTCT	NM_000498	NP_000489	143999226	P19099	C11B2_HUMAN	0			1	34	-	T	T	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	11						
CYP19A1	1588	broad.mit.edu	GRCh37	15	51507426	51507426	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01	TCGA-06-0122-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396402.1:c.862C>T	p.Arg288Cys	p.R288C	ENST00000396402	NM_000103.3	288	Cgt/Tgt	0		A:0	1	A:0		A	R/C	uc001zyz.3	protein_coding		CCDS10139.1			862/1512									skin(3)	3	c.(862-864)CGT>TGT			hmmpanther:PTHR24290:SF57,hmmpanther:PTHR24290,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	cytochrome P450, family 19	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	A:0		ENSP00000260433	A:0.001	10-Aug	2.47E-05				0.000303	1.50E-05			rs181766689,COSM2149227	10-Aug	.		ENST00000260433	Transcript	1	A:0.0002	estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	ENSG00000137869	g.chr15:51507426G>A	2594			MODERATE		2.035	medium	getma.org/?cm=msa&ty=f&p=CP19A_HUMAN&rb=46&re=488&var=R288C	getma.org/pdb.php?prot=CP19A_HUMAN&from=46&to=488&var=R288C	getma.org/?cm=var&var=hg19,15,51507426,G,A&fts=all	R288C	--	--	1																																		CYP19A1_uc001zza.3_Missense_Mutation_p.R288C|CYP19A1_uc001zzb.2_Missense_Mutation_p.R288C	0,1			probably_damaging(0.989)	p.R288C	NM_031226	NP_112503	A:0	tolerated(0.05)	0,1	CP19A_HUMAN	CYP19A1	HGNC	P11511	CP19A_HUMAN		all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Q16449_HUMAN,H0YLS2_HUMAN,H0YLP1_HUMAN,H0YKN1_HUMAN,E9PGZ6_HUMAN,E7EQ08_HUMAN,E7EPL6_HUMAN		9	1113	-			UPI000013D0D7	288					SNV	CYP19A1,missense_variant,p.Arg288Cys,ENST00000396402,NM_000103.3;CYP19A1,missense_variant,p.Arg288Cys,ENST00000260433,;CYP19A1,missense_variant,p.Arg288Cys,ENST00000396404,NM_031226.2;CYP19A1,missense_variant,p.Arg288Cys,ENST00000559878,;CYP19A1,missense_variant,p.Arg229Cys,ENST00000561075,;CYP19A1,downstream_gene_variant,,ENST00000453807,;CYP19A1,downstream_gene_variant,,ENST00000558328,;CYP19A1,upstream_gene_variant,,ENST00000559653,;RP11-108K3.1,intron_variant,,ENST00000559909,;CYP19A1,downstream_gene_variant,,ENST00000478421,;CYP19A1,missense_variant,p.Arg288Cys,ENST00000439712,;CYP19A1,missense_variant,p.Arg288Cys,ENST00000557934,;CYP19A1,non_coding_transcript_exon_variant,,ENST00000490076,;CYP19A1,non_coding_transcript_exon_variant,,ENST00000558066,;	uc001zyz.3	c.862C>T	1009/4409	2	2			c.862C>T						15	SNP	c.(862-864)CGT>TGT	42	42			skin(3)	3	Broad	cytochrome P450, family 19		Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	51507426		0.403	ENSG00000137869	4075	g.chr15:51507426G>A	estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	Melanoma(142;1016 1807 39614 48966 51721)		147	Melanoma(142;1016 1807 39614 48966 51721)		147	63.664982	KEEP	15	16	-1	34	23	15	16	-1	65.963348	34	23	0.315789	1	0	0	0	0	1	0	0	0	--	--		0	A			CYP19A1_uc001zza.3_Missense_Mutation_p.R288C|CYP19A1_uc001zzb.2_Missense_Mutation_p.R288C	10	GBM-06-0122-TP	p.R288C	G	AGGTCACCACGTTTCTGAACA	NM_031226	NP_112503	51507426	P11511	CP19A_HUMAN	0		all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	9	1113	-	A	A			Missense_Mutation	288						
CYP19A1	1588		GRCh37	15	51504611	51504611	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000396402.1:c.1169A>G	p.Lys390Arg	p.K390R	ENST00000396402	NM_000103.3	390	aAg/aGg	0																																																																																																																																																																																																																																												
CYP1A2	1544	broad.mit.edu	GRCh37	15	75042328	75042328	+	synonymous_variant	Silent	SNP	G	G	A	rs17861153	byFrequency	TCGA-06-6388-01	TCGA-06-6388-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343932.4:c.249G>A	p.Thr83=	p.T83=	ENST00000343932	NM_000761.3	83	acG/acA	0	A:0.0005		1			A	T	uc002ayr.1	protein_coding	YES	CCDS32293.1			249/1551									ovary(3)|breast(1)	4	c.(247-249)ACG>ACA			Gene3D:1.10.630.10,Pfam_domain:PF00067,Prints_domain:PR00463,hmmpanther:PTHR24299,hmmpanther:PTHR24299:SF7,Superfamily_domains:SSF48264	cytochrome P450, family 1, subfamily A,	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)		A:0.0015	ENSP00000342007		7-Feb	0.000906	0.000484	8.66E-05		0.000303	0.00114		0.00158	rs17861153,COSM471059	7-Feb	common_variant		ENST00000343932	Transcript	1		alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	ENSG00000140505	g.chr15:75042328G>A	2596			LOW								--	--	1																																			0,1	1			p.T83T	NM_000761	NP_000752			0,1	CP1A2_HUMAN	CYP1A2	HGNC	P05177	CP1A2_HUMAN					2	313	+			UPI0000073775	83		T -> M (in allele CYP1A2*9).			SNV	CYP1A2,synonymous_variant,p.=,ENST00000343932,NM_000761.3;	uc002ayr.1	c.249G>A	312/2728	1	1			c.249G>A						15	SNP	c.(247-249)ACG>ACA	49	49			ovary(3)|breast(1)	4	Broad	cytochrome P450, family 1, subfamily A,		Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	75042328		0.667	ENSG00000140505	4077	g.chr15:75042328G>A	alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding		p.T83T(NCIH1573-Tumor)|p.T83T(OCILY10-Tumor)	140		p.T83T(NCIH1573-Tumor)|p.T83T(OCILY10-Tumor)	140	4.714468	KEEP	2	7	-1	25	24	2	7	-1	12.047102	25	24	0.117647	1	0	0	0	0	0	0	1	0	--	--		0	A				104	GBM-06-6388-TP	p.T83T	G	TTGGCTCCACGCCCGTGCTGG	NM_000761	NP_000752	75042328	P05177	CP1A2_HUMAN	0			2	313	+	A	A			Silent	83		T -> M (in allele CYP1A2*9).				
CYP1A2	1544	broad.mit.edu	GRCh37	15	75042134	75042134	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6389-01	TCGA-06-6389-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343932.4:c.55G>A	p.Ala19Thr	p.A19T	ENST00000343932	NM_000761.3	19	Gcc/Acc	0			1			A	A/T	uc002ayr.1	protein_coding	YES	CCDS32293.1			55/1551									ovary(3)|breast(1)	4	c.(55-57)GCC>ACC			Prints_domain:PR01683,hmmpanther:PTHR24299,hmmpanther:PTHR24299:SF7,Transmembrane_helices:TMhelix	cytochrome P450, family 1, subfamily A,	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)			ENSP00000342007		7-Feb										7-Feb	.		ENST00000343932	Transcript	1		alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	ENSG00000140505	g.chr15:75042134G>A	2596			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CP1A2_HUMAN&rb=1&re=41&var=A19T	NA	getma.org/?cm=var&var=hg19,15,75042134,G,A&fts=all	A19T	--	--	1																																				1		benign(0.015)	p.A19T	NM_000761	NP_000752		tolerated(0.44)		CP1A2_HUMAN	CYP1A2	HGNC	P05177	CP1A2_HUMAN					2	119	+			UPI0000073775	19					SNV	CYP1A2,missense_variant,p.Ala19Thr,ENST00000343932,NM_000761.3;	uc002ayr.1	c.55G>A	118/2728	2	2			c.55G>A						15	SNP	c.(55-57)GCC>ACC	22	22			ovary(3)|breast(1)	4	Broad	cytochrome P450, family 1, subfamily A,		Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	75042134		0.587	ENSG00000140505	4077	g.chr15:75042134G>A	alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			140			140	-26.743492	KEEP	11	7	-1	155	137	11	7	-1	30.107599	155	137	0.057762	1	0	0	0	0	1	0	0	0	--	--		0	A				105	GBM-06-6389-TP	p.A19T	G	CCTGGCCTCTGCCATCTTCTG	NM_000761	NP_000752	75042134	P05177	CP1A2_HUMAN	0			2	119	+	A	A			Missense_Mutation	19						
CYP1A2	1544		GRCh37	15	75045612	75045612	+	splice_donor_variant	Splice_Site	SNP	G	G	A			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000343932.4:c.1253+1G>A		p.X418_splice	ENST00000343932	NM_000761.3	418		0																																																																																																																																																																																																																																												
CYP1B1	0	broad.mit.edu	GRCh37	2	38302345	38302345	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260630.3:c.187G>A	p.Ala63Thr	p.A63T	ENST00000260630	NM_000104.3	63	Gcg/Acg	0			1			T	A/T	uc002rqo.2	protein_coding	YES	CCDS1793.1			187/1632									ovary(1)|central_nervous_system(1)	2	c.(187-189)GCG>ACG			Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24299,hmmpanther:PTHR24299:SF0,Superfamily_domains:SSF48264	cytochrome P450, family 1, subfamily B,	Estrone(DB00655)			ENSP00000260630		3-Feb									COSM3407855	3-Feb	.		ENST00000260630	Transcript	1		visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	ENSG00000138061	g.chr2:38302345C>T	2597			MODERATE		2.39	medium	getma.org/?cm=msa&ty=f&p=CP1B1_HUMAN&rb=51&re=520&var=A63T	getma.org/pdb.php?prot=CP1B1_HUMAN&from=51&to=520&var=A63T	getma.org/?cm=var&var=hg19,2,38302345,C,T&fts=all	A63T	--	--	1																																			1	1		probably_damaging(0.962)	p.A63T	NM_000104	NP_000095		deleterious(0.04)	1	CP1B1_HUMAN	CYP1B1	HGNC	Q16678	CP1B1_HUMAN			Q53TK1_HUMAN,D0EZN8_HUMAN,B8YIA8_HUMAN,B8YIA4_HUMAN		3	590	-		all_hematologic(82;0.21)	UPI000006222C	63					SNV	CYP1B1,missense_variant,p.Ala63Thr,ENST00000260630,NM_000104.3;CYP1B1,missense_variant,p.Ala63Thr,ENST00000407341,;CYP1B1-AS1,upstream_gene_variant,,ENST00000431999,;CYP1B1-AS1,upstream_gene_variant,,ENST00000589303,;CYP1B1,non_coding_transcript_exon_variant,,ENST00000490576,;CYP1B1,intron_variant,,ENST00000494864,;CYP1B1,intron_variant,,ENST00000462864,;CYP1B1,upstream_gene_variant,,ENST00000492443,;CYP1B1,upstream_gene_variant,,ENST00000491456,;	uc002rqo.2	c.187G>A	589/5247	1	1			c.187G>A						2	SNP	c.(187-189)GCG>ACG	1	1			ovary(1)|central_nervous_system(1)	2	Broad	cytochrome P450, family 1, subfamily B,		Estrone(DB00655)	38302345		0.721	ENSG00000138061	4078	g.chr2:38302345C>T	visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			68			68	11.49913	KEEP	0	5	-1	3	3	0	5	-1	11.49913	3	3	0.5	1	0	0	0	0	1	0	0	0	--	--		0	T				159	GBM-19-1390-TP	p.A63T	C	ACCGCCGCCGCGTTTCCGATC	NM_000104	NP_000095	38302345	Q16678	CP1B1_HUMAN	0			3	590	-	T	T		all_hematologic(82;0.21)	Missense_Mutation	63						
CYP21A1P	1590		GRCh37	6	31973481	31973483	+	non_coding_transcript_exon_variant	RNA	DEL	CTG	CTG	-			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000342991.6:n.82_84del		p.*28*	ENST00000342991				0																																																																																																																																																																																																																																												
CYP21A2	1589	broad.mit.edu	GRCh37	6	32006249	32006249	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0130-01	TCGA-06-0130-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000418967.2:c.50G>A	p.Arg17His	p.R17H	ENST00000418967	NM_000500.7	17	cGc/cAc	0			1			A	R/H	uc003nze.1	protein_coding	YES	CCDS4735.1			50/1488										0	c.(49-51)CGC>CAC			hmmpanther:PTHR24281,hmmpanther:PTHR24281:SF2,Low_complexity_(Seg):seg	cytochrome P450, family 21, subfamily A,				ENSP00000408860		10-Jan									COSM3410965	10-Jan	.		ENST00000418967	Transcript	1		glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding	ENSG00000231852	g.chr6:32006249G>A	2600			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=C7DTV0_HUMAN&rb=1&re=57&var=R17H	NA	getma.org/?cm=var&var=hg19,6,32006249,G,A&fts=all	R17H	--	--	1																																		CYP21A2_uc003nzf.1_Missense_Mutation_p.R17H	1	1		unknown(0)	p.R17H	NM_000500	NP_000491		tolerated(0.15)	1		CYP21A2	HGNC	P08686	CP21A_HUMAN			Q9UP07_HUMAN,Q7KYP0_HUMAN,Q16874_HUMAN,C6K7H0_HUMAN,B6VE01_HUMAN		1	168	+			UPI0000073F52	16					SNV	CYP21A2,missense_variant,p.Arg17His,ENST00000418967,NM_000500.7;CYP21A2,missense_variant,p.Arg17His,ENST00000435122,NM_001128590.3;CYP21A2,missense_variant,p.Arg17His,ENST00000478281,;CYP21A2,missense_variant,p.Arg17His,ENST00000471671,;TNXB,downstream_gene_variant,,ENST00000375244,;TNXB,downstream_gene_variant,,ENST00000375247,NM_019105.6;C4B,downstream_gene_variant,,ENST00000435363,NM_001002029.3;C4B,downstream_gene_variant,,ENST00000425700,;TNXB,downstream_gene_variant,,ENST00000451343,NM_032470.3;C4B-AS1,upstream_gene_variant,,ENST00000415626,;CYP21A2,missense_variant,p.Arg17His,ENST00000466779,;CYP21A2,missense_variant,p.Arg17His,ENST00000469053,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000479074,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000479730,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000486063,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000483041,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000480027,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000488465,;TNXB,downstream_gene_variant,,ENST00000490077,;C4B,downstream_gene_variant,,ENST00000468936,;C4B,downstream_gene_variant,,ENST00000496065,;C4B,downstream_gene_variant,,ENST00000463249,;C4B,downstream_gene_variant,,ENST00000468237,;TNXB,downstream_gene_variant,,ENST00000498094,;CYP21A2,upstream_gene_variant,,ENST00000466879,;CYP21A2,upstream_gene_variant,,ENST00000464325,;CYP21A2,upstream_gene_variant,,ENST00000462278,;C4B,downstream_gene_variant,,ENST00000486992,;C4B,downstream_gene_variant,,ENST00000496560,;C4B,downstream_gene_variant,,ENST00000473957,;	uc003nze.1	c.50G>A	208/2182	2	2			c.50G>A						6	SNP	c.(49-51)CGC>CAC	35	35				0	Broad	cytochrome P450, family 21, subfamily A,			32006249		0.542	ENSG00000231852	4080	g.chr6:32006249G>A	glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding	Melanoma(174;1669 1998 3915 34700 46447)			Melanoma(174;1669 1998 3915 34700 46447)			12.60096	KEEP	1	4	-1	1	4	1	4	-1	12.632162	1	4	0.571429	1	0	0	0	0	1	0	0	0	--	--		0	A			CYP21A2_uc003nzf.1_Missense_Mutation_p.R17H	16	GBM-06-0130-TP	p.R17H	G	GCTGGCGCCCGCCTGCTGTGG	NM_000500	NP_000491	32006249	P08686	CP21A_HUMAN	0			1	168	+	A	A			Missense_Mutation	16						
CYP21A2	1589	broad.mit.edu	GRCh37	6	32008215	32008215	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000418967.2:c.972C>T	p.His324=	p.H324=	ENST00000418967	NM_000500.7	324	caC/caT	0			1			T	H	uc003nze.1	protein_coding	YES	CCDS4735.1			972/1488										0	c.(970-972)CAC>CAT			Gene3D:1.10.630.10,Pfam_domain:PF00067,Prints_domain:PR00463,hmmpanther:PTHR24281,hmmpanther:PTHR24281:SF2,Superfamily_domains:SSF48264	cytochrome P450, family 21, subfamily A,				ENSP00000408860		10-Aug	3.29E-05					6.25E-05			rs773218988,COSM3410966	10-Aug	.		ENST00000418967	Transcript	1		glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding	ENSG00000231852	g.chr6:32008215C>T	2600			LOW								--	--	1																																		CYP21A2_uc003nzf.1_Silent_p.H294H	0,1	1			p.H324H	NM_000500	NP_000491			0,1		CYP21A2	HGNC	P08686	CP21A_HUMAN			Q9UP07_HUMAN,Q7KYP0_HUMAN,Q16874_HUMAN,C6K7H0_HUMAN,B6VE01_HUMAN		8	1090	+			UPI0000073F52	323					SNV	CYP21A2,synonymous_variant,p.=,ENST00000418967,NM_000500.7;CYP21A2,synonymous_variant,p.=,ENST00000435122,NM_001128590.3;TNXB,downstream_gene_variant,,ENST00000375244,;TNXB,downstream_gene_variant,,ENST00000375247,NM_019105.6;TNXB,downstream_gene_variant,,ENST00000451343,NM_032470.3;CYP21A2,downstream_gene_variant,,ENST00000478281,;CYP21A2,downstream_gene_variant,,ENST00000471671,;C4B-AS1,upstream_gene_variant,,ENST00000415626,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000479074,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000479730,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000486063,;CYP21A2,non_coding_transcript_exon_variant,,ENST00000483041,;TNXB,downstream_gene_variant,,ENST00000490077,;CYP21A2,downstream_gene_variant,,ENST00000466779,;TNXB,downstream_gene_variant,,ENST00000498094,;CYP21A2,downstream_gene_variant,,ENST00000466879,;CYP21A2,downstream_gene_variant,,ENST00000480027,;CYP21A2,downstream_gene_variant,,ENST00000488465,;CYP21A2,downstream_gene_variant,,ENST00000469053,;CYP21A2,downstream_gene_variant,,ENST00000464325,;CYP21A2,downstream_gene_variant,,ENST00000462278,;	uc003nze.1	c.972C>T	1130/2182	2	2			c.972C>T						6	SNP	c.(970-972)CAC>CAT	38	38				0	Broad	cytochrome P450, family 21, subfamily A,			32008215		0.677	ENSG00000231852	4080	g.chr6:32008215C>T	glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding	Melanoma(174;1669 1998 3915 34700 46447)			Melanoma(174;1669 1998 3915 34700 46447)			99.63838	KEEP	19	21	-1	4	12	19	21	-1	101.615968	4	12	0.731707	1	0	0	0	0	0	0	1	0	--	--		0	T			CYP21A2_uc003nzf.1_Silent_p.H294H	102	GBM-06-5858-TP	p.H324H	C	AGCTAGACCACGAACTGGGCC	NM_000500	NP_000491	32008215	P08686	CP21A_HUMAN	0			8	1090	+	T	T			Silent	323						
CYP26B1	56603		GRCh37	2	72360330	72360330	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000001146.2:c.968G>A	p.Arg323Gln	p.R323Q	ENST00000001146	NM_019885.3	323	cGg/cAg	0																																																																																																																																																																																																																																												
CYP27A1	0	broad.mit.edu	GRCh37	2	219677652	219677652	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs72551319		TCGA-26-5133-01	TCGA-26-5133-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258415.4:c.850A>C	p.Lys284Gln	p.K284Q	ENST00000258415	NM_000784.3	284	Aag/Cag	0			1			C	K/Q	uc002viz.3	protein_coding	YES	CCDS2423.1			850/1596									ovary(1)	1	c.(850-852)AAG>CAG			hmmpanther:PTHR24291:SF6,hmmpanther:PTHR24291,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	cytochrome P450, family 27, subfamily A,	Cholecalciferol(DB00169)			ENSP00000258415		9-May									COSM3407577	9-May	.		ENST00000258415	Transcript	1		bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding	ENSG00000135929	g.chr2:219677652A>C	2605			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=CP27A_HUMAN&rb=61&re=526&var=K284Q	getma.org/pdb.php?prot=CP27A_HUMAN&from=61&to=526&var=K284Q	getma.org/?cm=var&var=hg19,2,219677652,A,C&fts=all	K284Q	--	--	1																																			1	1		benign(0.099)	p.K284Q	NM_000784	NP_000775		tolerated(0.07)	1	CP27A_HUMAN	CYP27A1	HGNC	Q02318	CP27A_HUMAN		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	C9J1K5_HUMAN		5	1284	+		Renal(207;0.0474)	UPI00001281BD	284					SNV	CYP27A1,missense_variant,p.Lys284Gln,ENST00000258415,NM_000784.3;CYP27A1,missense_variant,p.Lys190Gln,ENST00000411688,;CYP27A1,3_prime_UTR_variant,,ENST00000445971,;CYP27A1,non_coding_transcript_exon_variant,,ENST00000494263,;CYP27A1,non_coding_transcript_exon_variant,,ENST00000466602,;	uc002viz.3	c.850A>C	1277/2286	3	3			c.850A>C						2	SNP	c.(850-852)AAG>CAG	13	13			ovary(1)	1	Broad	cytochrome P450, family 27, subfamily A,		Cholecalciferol(DB00169)	219677652		0.517	ENSG00000135929	4085	g.chr2:219677652A>C	bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding							-15.932401	KEEP	4	2	-1	72	64	4	2	-1	12.853263	72	64	0.039683	1	0	0	0	0	1	0	0	0	--	--		0	C				182	GBM-26-5133-TP	p.K284Q	A	CACAGGGAAGAAGCTGATTGA	NM_000784	NP_000775	219677652	Q02318	CP27A_HUMAN	0		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	5	1284	+	C	C		Renal(207;0.0474)	Missense_Mutation	284						
CYP27B1	1594	broad.mit.edu	GRCh37	12	58158830	58158830	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0211-01	TCGA-06-0211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000228606.4:c.754C>T	p.Arg252Cys	p.R252C	ENST00000228606	NM_000785.3	252	Cgc/Tgc	0			1			A	R/C	uc001spz.1	protein_coding	YES	CCDS8954.1			754/1527								p.R252C(1)	central_nervous_system(3)	3	c.(754-756)CGC>TGC			hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF3,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	cytochrome P450, family 27, subfamily B,	Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)			ENSP00000228606		9-Apr									COSM42726	9-Apr	.		ENST00000228606	Transcript	1		bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	ENSG00000111012	g.chr12:58158830G>A	2606			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=CP27B_HUMAN&rb=41&re=505&var=R252C	getma.org/pdb.php?prot=CP27B_HUMAN&from=41&to=505&var=R252C	getma.org/?cm=var&var=hg19,12,58158830,G,A&fts=all	R252C	--	--	1																																OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	CYP27B1_uc001sqa.1_Missense_Mutation_p.R17C|CYP27B1_uc001sqb.1_Missense_Mutation_p.P132L|CYP27B1_uc001sqc.1_Missense_Mutation_p.P132L	1	1		probably_damaging(0.947)	p.R252C	NM_000785	NP_000776		deleterious(0)	1	CP27B_HUMAN	CYP27B1	HGNC	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Q9UP42_HUMAN,Q548T3_HUMAN,F8VWR7_HUMAN		4	906	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		UPI000000D77F	252					SNV	CYP27B1,missense_variant,p.Arg252Cys,ENST00000228606,NM_000785.3;CYP27B1,missense_variant,p.Arg17Cys,ENST00000546567,;CYP27B1,missense_variant,p.Arg223Cys,ENST00000546609,;MARCH9,downstream_gene_variant,,ENST00000266643,NM_138396.5;METTL1,downstream_gene_variant,,ENST00000324871,NM_005371.5;METTL1,downstream_gene_variant,,ENST00000257848,NM_023033.3;METTL1,downstream_gene_variant,,ENST00000547653,;METTL1,downstream_gene_variant,,ENST00000548504,;CYP27B1,downstream_gene_variant,,ENST00000546496,;CYP27B1,non_coding_transcript_exon_variant,,ENST00000547344,;CYP27B1,non_coding_transcript_exon_variant,,ENST00000547451,;METTL1,downstream_gene_variant,,ENST00000553125,;CYP27B1,downstream_gene_variant,,ENST00000552186,;METTL1,downstream_gene_variant,,ENST00000551117,;	uc001spz.1	c.754C>T	964/2540	1	1			c.754C>T						12	SNP	c.(754-756)CGC>TGC	64	64		p.R252C(1)	central_nervous_system(3)	3	Broad	cytochrome P450, family 27, subfamily B,		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	58158830		0.607	ENSG00000111012	4086	g.chr12:58158830G>A	bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			101			101	109.203081	KEEP	16	29	-1	32	35	16	29	-1	109.906153	32	35	0.404494	1	0	0	0	0	1	0	0	0	--	--		0	A	OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	CYP27B1_uc001sqa.1_Missense_Mutation_p.R17C|CYP27B1_uc001sqb.1_Missense_Mutation_p.P132L|CYP27B1_uc001sqc.1_Missense_Mutation_p.P132L	48	GBM-06-0211-TP	p.R252C	G	CGGCAGAGGCGGCCCCAGGGC	NM_000785	NP_000776	58158830	O15528	CP27B_HUMAN	0	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		4	906	-	A	A	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		Missense_Mutation	252						
CYP27B1	0	broad.mit.edu	GRCh37	12	58158677	58158677	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01	TCGA-76-6192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000228606.4:c.823G>A	p.Ala275Thr	p.A275T	ENST00000228606	NM_000785.3	275	Gca/Aca	0			1			T	A/T	uc001spz.1	protein_coding	YES	CCDS8954.1			823/1527									central_nervous_system(3)	3	c.(823-825)GCA>ACA			hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF3,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	cytochrome P450, family 27, subfamily B,	Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)			ENSP00000228606		9-May									COSM1363436	9-May	.		ENST00000228606	Transcript	1		bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	ENSG00000111012	g.chr12:58158677C>T	2606			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=CP27B_HUMAN&rb=41&re=505&var=A275T	getma.org/pdb.php?prot=CP27B_HUMAN&from=41&to=505&var=A275T	getma.org/?cm=var&var=hg19,12,58158677,C,T&fts=all	A275T	--	--	1																																		CYP27B1_uc001sqa.1_Missense_Mutation_p.A40T|CYP27B1_uc001sqb.1_Missense_Mutation_p.G155D|CYP27B1_uc001sqc.1_Missense_Mutation_p.G155D	1	1		benign(0.006)	p.A275T	NM_000785	NP_000776		tolerated(0.5)	1	CP27B_HUMAN	CYP27B1	HGNC	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Q9UP42_HUMAN,Q548T3_HUMAN,F8VWR7_HUMAN		5	975	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		UPI000000D77F	275					SNV	CYP27B1,missense_variant,p.Ala275Thr,ENST00000228606,NM_000785.3;CYP27B1,missense_variant,p.Ala40Thr,ENST00000546567,;MARCH9,downstream_gene_variant,,ENST00000266643,NM_138396.5;METTL1,downstream_gene_variant,,ENST00000324871,NM_005371.5;METTL1,downstream_gene_variant,,ENST00000257848,NM_023033.3;METTL1,downstream_gene_variant,,ENST00000547653,;CYP27B1,downstream_gene_variant,,ENST00000546609,;METTL1,downstream_gene_variant,,ENST00000548504,;CYP27B1,downstream_gene_variant,,ENST00000546496,;CYP27B1,non_coding_transcript_exon_variant,,ENST00000547344,;CYP27B1,non_coding_transcript_exon_variant,,ENST00000547451,;METTL1,downstream_gene_variant,,ENST00000553125,;CYP27B1,downstream_gene_variant,,ENST00000552186,;METTL1,downstream_gene_variant,,ENST00000551117,;	uc001spz.1	c.823G>A	1033/2540	1	1			c.823G>A						12	SNP	c.(823-825)GCA>ACA	13	13			central_nervous_system(3)	3	Broad	cytochrome P450, family 27, subfamily B,		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	58158677		0.617	ENSG00000111012	4086	g.chr12:58158677C>T	bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			101			101	37.334278	KEEP	8	12	-1	24	49	8	12	-1	42.671067	24	49	0.223684	1	0	0	0	0	1	0	0	0	--	--		0	T			CYP27B1_uc001sqa.1_Missense_Mutation_p.A40T|CYP27B1_uc001sqb.1_Missense_Mutation_p.G155D|CYP27B1_uc001sqc.1_Missense_Mutation_p.G155D	275	GBM-76-6192-TP	p.A275T	C	CTCATGGCTGCCTCTGCCTCT	NM_000785	NP_000776	58158677	O15528	CP27B_HUMAN	0	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		5	975	-	T	T	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		Missense_Mutation	275						
CYP2A13	1553	broad.mit.edu	GRCh37	19	41597726	41597726	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0879-01	TCGA-06-0879-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330436.3:c.744C>T	p.Ile248=	p.I248=	ENST00000330436	NM_000766.4	248	atC/atT	0			1			T	I	uc002opt.2	protein_coding	YES	CCDS12571.1			744/1485									ovary(2)|skin(1)	3	c.(742-744)ATC>ATT			hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF96,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	cytochrome P450, family 2, subfamily A,	Clomipramine(DB01242)|Nicotine(DB00184)			ENSP00000332679		9-May									COSM3404257	9-May	.		ENST00000330436	Transcript			xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	ENSG00000197838	g.chr19:41597726C>T	2608			LOW								--	--	1																																			1	1			p.I248I	NM_000766	NP_000757			1	CP2AD_HUMAN	CYP2A13	HGNC	Q16696	CP2AD_HUMAN					5	753	+			UPI000013E07A	248					SNV	CYP2A13,synonymous_variant,p.=,ENST00000330436,NM_000766.4;	uc002opt.2	c.744C>T	744/1739	2	2			c.744C>T						19	SNP	c.(742-744)ATC>ATT	42	42			ovary(2)|skin(1)	3	Broad	cytochrome P450, family 2, subfamily A,		Clomipramine(DB01242)|Nicotine(DB00184)	41597726		0.557	ENSG00000197838	4088	g.chr19:41597726C>T	xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding							-39.196544	KEEP	3	4	-1	87	118	3	4	-1	9.110369	87	118	0.025773	1	0	0	0	0	0	0	1	0	--	--		0	T				75	GBM-06-0879-TP	p.I248I	C	AGGACTTCATCGCCAAGAAGG	NM_000766	NP_000757	41597726	Q16696	CP2AD_HUMAN	0			5	753	+	T	T			Silent	248						
CYP2A13	0	broad.mit.edu	GRCh37	19	41600897	41600897	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330436.3:c.1195C>T	p.Leu399=	p.L399=	ENST00000330436	NM_000766.4	399	Ctg/Ttg	0			1			T	L	uc002opt.2	protein_coding	YES	CCDS12571.1			1195/1485									ovary(2)|skin(1)	3	c.(1195-1197)CTG>TTG			hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF96,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264,Prints_domain:PR01684,Prints_domain:PR00463	cytochrome P450, family 2, subfamily A,	Clomipramine(DB01242)|Nicotine(DB00184)			ENSP00000332679		9-Aug									COSM3404260	9-Aug	.		ENST00000330436	Transcript			xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	ENSG00000197838	g.chr19:41600897C>T	2608			LOW								--	--	1																																			1	1			p.L399L	NM_000766	NP_000757			1	CP2AD_HUMAN	CYP2A13	HGNC	Q16696	CP2AD_HUMAN					8	1204	+			UPI000013E07A	399					SNV	CYP2A13,synonymous_variant,p.=,ENST00000330436,NM_000766.4;	uc002opt.2	c.1195C>T	1195/1739	2	2			c.1195C>T						19	SNP	c.(1195-1197)CTG>TTG	27	27			ovary(2)|skin(1)	3	Broad	cytochrome P450, family 2, subfamily A,		Clomipramine(DB01242)|Nicotine(DB00184)	41600897		0.557	ENSG00000197838	4088	g.chr19:41600897C>T	xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding							249.623136	KEEP	54	44	-1	67	82	54	44	-1	251.939999	67	82	0.38756	1	0	0	0	0	0	0	1	0	--	--		0	T				129	GBM-12-5295-TP	p.L399L	C	GGGCTCCGTGCTGAGAGACCC	NM_000766	NP_000757	41600897	Q16696	CP2AD_HUMAN	0			8	1204	+	T	T			Silent	399						
CYP2A13	0	broad.mit.edu	GRCh37	19	41597775	41597775	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs143140637		TCGA-27-1834-01	TCGA-27-1834-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330436.3:c.793C>T	p.Arg265Trp	p.R265W	ENST00000330436	NM_000766.4	265	Cgg/Tgg	0	T:0.0005	T:0.0015	1	T:0		T	R/W	uc002opt.2	protein_coding	YES	CCDS12571.1			793/1485									ovary(2)|skin(1)	3	c.(793-795)CGG>TGG			hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF96,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	cytochrome P450, family 2, subfamily A,	Clomipramine(DB01242)|Nicotine(DB00184)	T:0	T:0	ENSP00000332679	T:0	9-May	0.000107	0.000769	0.000346			1.50E-05			rs143140637,COSM3404259	9-May	common_variant		ENST00000330436	Transcript		T:0.0004	xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	ENSG00000197838	g.chr19:41597775C>T	2608			MODERATE		3.765	high	getma.org/?cm=msa&ty=f&p=CP2AD_HUMAN&rb=34&re=491&var=R265W	getma.org/pdb.php?prot=CP2AD_HUMAN&from=34&to=491&var=R265W	getma.org/?cm=var&var=hg19,19,41597775,C,T&fts=all	R265W	--	--	1																																			0,1	1		benign(0.122)	p.R265W	NM_000766	NP_000757	T:0	deleterious(0)	0,1	CP2AD_HUMAN	CYP2A13	HGNC	Q16696	CP2AD_HUMAN					5	802	+			UPI000013E07A	265					SNV	CYP2A13,missense_variant,p.Arg265Trp,ENST00000330436,NM_000766.4;	uc002opt.2	c.793C>T	793/1739	2	2			c.793C>T						19	SNP	c.(793-795)CGG>TGG	28	28			ovary(2)|skin(1)	3	Broad	cytochrome P450, family 2, subfamily A,		Clomipramine(DB01242)|Nicotine(DB00184)	41597775		0.582	ENSG00000197838	4088	g.chr19:41597775C>T	xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding							-10.896185	KEEP	3	6	-1	63	77	3	6	-1	15.72431	63	77	0.060606	1	0	0	0	0	1	0	0	0	--	--		0	T				193	GBM-27-1834-TP	p.R265W	C	CAATTCCCCACGGGACTTCAT	NM_000766	NP_000757	41597775	Q16696	CP2AD_HUMAN	0			5	802	+	T	T			Missense_Mutation	265						
CYP2A13	0	broad.mit.edu	GRCh37	19	41597756	41597756	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-5651-01	TCGA-41-5651-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330436.3:c.774G>A	p.Thr258=	p.T258=	ENST00000330436	NM_000766.4	258	acG/acA	0			1			A	T	uc002opt.2	protein_coding	YES	CCDS12571.1			774/1485									ovary(2)|skin(1)	3	c.(772-774)ACG>ACA			hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF96,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	cytochrome P450, family 2, subfamily A,	Clomipramine(DB01242)|Nicotine(DB00184)			ENSP00000332679		9-May									COSM3404258	9-May	.		ENST00000330436	Transcript			xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	ENSG00000197838	g.chr19:41597756G>A	2608			LOW								--	--	1																																			1	1			p.T258T	NM_000766	NP_000757			1	CP2AD_HUMAN	CYP2A13	HGNC	Q16696	CP2AD_HUMAN					5	783	+			UPI000013E07A	258					SNV	CYP2A13,synonymous_variant,p.=,ENST00000330436,NM_000766.4;	uc002opt.2	c.774G>A	774/1739	1	1			c.774G>A						19	SNP	c.(772-774)ACG>ACA	60	60			ovary(2)|skin(1)	3	Broad	cytochrome P450, family 2, subfamily A,		Clomipramine(DB01242)|Nicotine(DB00184)	41597756		0.587	ENSG00000197838	4088	g.chr19:41597756G>A	xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding							71.761014	KEEP	13	12	-1	6	2	13	12	-1	73.236843	6	2	0.733333	1	0	0	0	0	0	0	1	0	--	--		0	A				258	GBM-41-5651-TP	p.T258T	G	ACCAGCGCACGCTGGATCCCA	NM_000766	NP_000757	41597756	Q16696	CP2AD_HUMAN	0			5	783	+	A	A			Silent	258						
CYP2B6	0	broad.mit.edu	GRCh37	19	41515193	41515193	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-6391-01	TCGA-06-6391-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324071.4:c.715C>T	p.Gln239Ter	p.Q239*	ENST00000324071	NM_000767.4	239	Cag/Tag	0			1			T	Q/*	uc002opr.1	protein_coding	YES	CCDS12570.1			715/1476									ovary(1)|skin(1)	2	c.(715-717)CAG>TAG			hmmpanther:PTHR24300:SF146,hmmpanther:PTHR24300,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	cytochrome P450, family 2, subfamily B,	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)			ENSP00000324648		9-May										9-May	.		ENST00000324071	Transcript	1		cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	ENSG00000197408	g.chr19:41515193C>T	2615			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,19,41515193,C,T&fts=all	Q239*	--	--	1																																		CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Intron		1			p.Q239*	NM_000767	NP_000758				CP2B6_HUMAN	CYP2B6	HGNC	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		Q9UNX8_HUMAN,F2X1B0_HUMAN		5	722	+			UPI000012823F	239					SNV	CYP2B6,stop_gained,p.Gln239Ter,ENST00000324071,NM_000767.4;CYP2B6,intron_variant,,ENST00000593831,;CYP2B6,intron_variant,,ENST00000330446,;CYP2B6,downstream_gene_variant,,ENST00000598834,;CYP2B6,upstream_gene_variant,,ENST00000597612,;CYP2B6,downstream_gene_variant,,ENST00000594187,;	uc002opr.1	c.715C>T	722/3054	5	1			c.715C>T						19	SNP	c.(715-717)CAG>TAG	8	8			ovary(1)|skin(1)	2	Broad	cytochrome P450, family 2, subfamily B,		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	41515193		0.522	ENSG00000197408	4091	g.chr19:41515193C>T	cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			56			56	34.383292	KEEP	11	15	-1	68	79	11	15	-1	51.941509	68	79	0.152318	1	0	0	0	0	0	1	0	0	--	--		0	T			CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Intron	107	GBM-06-6391-TP	p.Q239*	C	CAAAAACCTGCAGGAAATCAA	NM_000767	NP_000758	41515193	P20813	CP2B6_HUMAN	0	LUSC - Lung squamous cell carcinoma(20;0.00322)		5	722	+	T	T			Nonsense_Mutation	239						
CYP2B6	0	broad.mit.edu	GRCh37	19	41512932	41512932	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs140578107	by1000genomes	TCGA-12-0618-01	TCGA-12-0618-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324071.4:c.607T>C	p.Tyr203His	p.Y203H	ENST00000324071	NM_000767.4	203	Tac/Cac	0		C:0	1	C:0		C	Y/H	uc002opr.1	protein_coding	YES	CCDS12570.1			607/1476									ovary(1)|skin(1)	2	c.(607-609)TAC>CAC			hmmpanther:PTHR24300:SF146,hmmpanther:PTHR24300,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	cytochrome P450, family 2, subfamily B,	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	C:0.001		ENSP00000324648	C:0	9-Apr	8.24E-06			0.000116					rs140578107,COSM3404256	9-Apr	.		ENST00000324071	Transcript	1	C:0.0002	cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	ENSG00000197408	g.chr19:41512932T>C	2615			MODERATE		0.66	neutral	getma.org/?cm=msa&ty=f&p=CP2B6_HUMAN&rb=31&re=488&var=Y203H	getma.org/pdb.php?prot=CP2B6_HUMAN&from=31&to=488&var=Y203H	getma.org/?cm=var&var=hg19,19,41512932,T,C&fts=all	Y203H	--	--	1																																		CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Intron	0,1	1		benign(0.061)	p.Y203H	NM_000767	NP_000758	C:0	tolerated(0.34)	0,1	CP2B6_HUMAN	CYP2B6	HGNC	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		Q9UNX8_HUMAN,F2X1B0_HUMAN		4	614	+			UPI000012823F	203					SNV	CYP2B6,missense_variant,p.Tyr203His,ENST00000324071,NM_000767.4;CYP2B6,intron_variant,,ENST00000593831,;CYP2B6,intron_variant,,ENST00000330446,;CYP2B6,non_coding_transcript_exon_variant,,ENST00000598834,;CYP2B6,non_coding_transcript_exon_variant,,ENST00000594187,;CYP2B6,upstream_gene_variant,,ENST00000597612,;	uc002opr.1	c.607T>C	614/3054	3	3			c.607T>C						19	SNP	c.(607-609)TAC>CAC	1	1			ovary(1)|skin(1)	2	Broad	cytochrome P450, family 2, subfamily B,		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	41512932		0.512	ENSG00000197408	4091	g.chr19:41512932T>C	cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			56			56	-41.567923	KEEP	4	6	-1	143	161	4	6	-1	22.846969	143	161	0.03321	1	0	0	0	0	1	0	0	0	--	--		0	C			CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Intron	119	GBM-12-0618-TP	p.Y203H	T	GAACTTGTTCTACCAGACTTT	NM_000767	NP_000758	41512932	P20813	CP2B6_HUMAN	0	LUSC - Lung squamous cell carcinoma(20;0.00322)		4	614	+	C	C			Missense_Mutation	203						
CYP2B6	0	broad.mit.edu	GRCh37	19	41512823	41512823	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324071.4:c.498C>T	p.Asp166=	p.D166=	ENST00000324071	NM_000767.4	166	gaC/gaT	0			1			T	D	uc002opr.1	protein_coding	YES	CCDS12570.1			498/1476									ovary(1)|skin(1)	2	c.(496-498)GAC>GAT			hmmpanther:PTHR24300:SF146,hmmpanther:PTHR24300,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	cytochrome P450, family 2, subfamily B,	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)			ENSP00000324648		9-Apr									COSM3404255	9-Apr	.		ENST00000324071	Transcript	1		cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	ENSG00000197408	g.chr19:41512823C>T	2615			LOW								--	--	1																																		CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Intron	1	1			p.D166D	NM_000767	NP_000758			1	CP2B6_HUMAN	CYP2B6	HGNC	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		Q9UNX8_HUMAN,F2X1B0_HUMAN		4	505	+			UPI000012823F	166					SNV	CYP2B6,synonymous_variant,p.=,ENST00000324071,NM_000767.4;CYP2B6,intron_variant,,ENST00000330446,;CYP2B6,intron_variant,,ENST00000593831,;CYP2B6,non_coding_transcript_exon_variant,,ENST00000598834,;CYP2B6,non_coding_transcript_exon_variant,,ENST00000594187,;CYP2B6,upstream_gene_variant,,ENST00000597612,;	uc002opr.1	c.498C>T	505/3054	1	1			c.498C>T						19	SNP	c.(496-498)GAC>GAT	5	5			ovary(1)|skin(1)	2	Broad	cytochrome P450, family 2, subfamily B,		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	41512823		0.512	ENSG00000197408	4091	g.chr19:41512823C>T	cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			56			56	-1.00885	KEEP	2	1	-1	21	18	2	1	-1	6.406517	21	18	0.075	1	0	0	0	0	0	0	1	0	--	--		0	T			CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Intron	230	GBM-32-1979-TP	p.D166D	C	CCCTCATGGACCCCACCTTCC	NM_000767	NP_000758	41512823	P20813	CP2B6_HUMAN	0	LUSC - Lung squamous cell carcinoma(20;0.00322)		4	505	+	T	T			Silent	166						
CYP2B6	1555		GRCh37	19	41515999	41515999	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000324071.4:c.923G>A	p.Arg308His	p.R308H	ENST00000324071	NM_000767.4	308	cGc/cAc	0																																																																																																																																																																																																																																												
CYP2C18	0	broad.mit.edu	GRCh37	10	96447617	96447617	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-1970-01	TCGA-32-1970-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285979.6:c.259C>T	p.Leu87=	p.L87=	ENST00000285979	NM_000772.2	87	Ctg/Ttg	0			1			T	L	uc001kjv.3	protein_coding	YES	CCDS7435.1			259/1473									ovary(3)|lung(1)|skin(1)	5	c.(259-261)CTG>TTG			Gene3D:1.10.630.10,Pfam_domain:PF00067,Prints_domain:PR00463,hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF123,Superfamily_domains:SSF48264	cytochrome P450 family 2 subfamily C polypeptide				ENSP00000285979		9-Feb									COSM3397320	9-Feb	.		ENST00000285979	Transcript			xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	ENSG00000108242	g.chr10:96447617C>T	2620			LOW								--	--	1																																		CYP2C18_uc001kjw.3_Silent_p.L87L|CYP2C19_uc009xus.1_5'Flank|CYP2C19_uc010qny.1_5'Flank	1	1			p.L87L	NM_000772	NP_000763			1	CP2CI_HUMAN	CYP2C18	HGNC	P33260	CP2CI_HUMAN		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Q16750_HUMAN		2	585	+		Colorectal(252;0.09)	UPI000013DE1D	87					SNV	CYP2C18,synonymous_variant,p.=,ENST00000285979,NM_000772.2;CYP2C18,synonymous_variant,p.=,ENST00000339022,NM_001128925.1;CYP2C19,upstream_gene_variant,,ENST00000464755,;	uc001kjv.3	c.259C>T	458/2418	1	1			c.259C>T						10	SNP	c.(259-261)CTG>TTG	5	5			ovary(3)|lung(1)|skin(1)	5	Broad	cytochrome P450 family 2 subfamily C polypeptide			96447617		0.433	ENSG00000108242	4092	g.chr10:96447617C>T	xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding							463.455696	KEEP	72	66	-1	23	21	72	66	-1	472.926943	23	21	0.745665	1	0	0	0	0	0	0	1	0	--	--		0	T			CYP2C18_uc001kjw.3_Silent_p.L87L|CYP2C19_uc009xus.1_5'Flank|CYP2C19_uc010qny.1_5'Flank	228	GBM-32-1970-TP	p.L87L	C	GAAGGAGGCCCTGATTGATCA	NM_000772	NP_000763	96447617	P33260	CP2CI_HUMAN	0		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	2	585	+	T	T		Colorectal(252;0.09)	Silent	87						
CYP2C19	0	broad.mit.edu	GRCh37	10	96612523	96612523	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs138112316		TCGA-14-0740-01	TCGA-14-0740-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371321.3:c.1325G>A	p.Arg442His	p.R442H	ENST00000371321	NM_000769.1	442	cGc/cAc	0	T:0.0005		1			A	R/H	uc010qnz.1	protein_coding	YES	CCDS7436.1			1325/1473									ovary(4)|central_nervous_system(1)|skin(1)	6	c.(1324-1326)CGC>CAC			hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF131,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264,Prints_domain:PR00463,Prints_domain:PR00385	cytochrome P450, family 2, subfamily C,	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)		T:0	ENSP00000360372		9-Sep	1.65E-05		8.70E-05			1.50E-05			rs138112316,COSM198925	9-Sep	.		ENST00000371321	Transcript	1		exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	ENSG00000165841	g.chr10:96612523G>A	2621			MODERATE		3.03	medium	getma.org/?cm=msa&ty=f&p=CP2CJ_HUMAN&rb=30&re=487&var=R442H	getma.org/pdb.php?prot=CP2CJ_HUMAN&from=30&to=487&var=R442H	getma.org/?cm=var&var=hg19,10,96612523,G,A&fts=all	R442H	--	--	1																																		CYP2C19_uc010qny.1_Missense_Mutation_p.R420H	0,1	1		benign(0.346)	p.R442H	NM_000769	NP_000760		deleterious(0.03)	0,1	CP2CJ_HUMAN	CYP2C19	HGNC	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)			9	1325	+		Colorectal(252;0.09)	UPI000013DE1E	442		R -> C (in allele CYP2C19*16; lowered catalytic activity).			SNV	CYP2C19,missense_variant,p.Arg442His,ENST00000371321,NM_000769.1;CYP2C19,non_coding_transcript_exon_variant,,ENST00000464755,;	uc010qnz.1	c.1325G>A	1407/1901	1	1			c.1325G>A						10	SNP	c.(1324-1326)CGC>CAC	64	64			ovary(4)|central_nervous_system(1)|skin(1)	6	Broad	cytochrome P450, family 2, subfamily C,		Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	96612523		0.433	ENSG00000165841	4093	g.chr10:96612523G>A	exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity							-9.064941	KEEP	2	2	-1	38	53	2	2	-1	7.563973	38	53	0.051282	1	0	0	0	0	1	0	0	0	--	--		0	A			CYP2C19_uc010qny.1_Missense_Mutation_p.R420H	132	GBM-14-0740-TP	p.R442H	G	GGCCTGGCCCGCATGGAGCTG	NM_000769	NP_000760	96612523	P33261	CP2CJ_HUMAN	0		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	9	1325	+	A	A		Colorectal(252;0.09)	Missense_Mutation	442		R -> C (in allele CYP2C19*16; lowered catalytic activity).				
CYP2C8	1558		GRCh37	10	96827103	96827103	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000371270.3:c.343A>C	p.Ser115Arg	p.S115R	ENST00000371270	NM_000770.3	115	Agc/Cgc	0																																																																																																																																																																																																																																												
CYP2D6	0	broad.mit.edu	GRCh37	22	42525154	42525154	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01	TCGA-06-6695-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360608.5:c.386G>A	p.Arg129His	p.R129H	ENST00000360608	NM_000106.5	129	cGc/cAc	0			1			T	R/H	uc003bce.2	protein_coding	YES	CCDS46721.1			386/1494									breast(1)|skin(1)	2	c.(385-387)CGC>CAC			hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF13,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	cytochrome P450, family 2, subfamily D,				ENSP00000353820		9-Mar	8.30E-06							6.20E-05	rs746272785,COSM3405698	9-Mar	.		ENST00000360608	Transcript	1				electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	ENSG00000100197	g.chr22:42525154C>T	2625			MODERATE		2.98	medium	getma.org/?cm=msa&ty=f&p=CP2D6_HUMAN&rb=34&re=494&var=R129H	getma.org/pdb.php?prot=CP2D6_HUMAN&from=34&to=494&var=R129H	getma.org/?cm=var&var=hg19,22,42525154,C,T&fts=all	R129H	--	--	1																																		uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Intron|CYP2D6_uc003bcf.2_Intron	0,1	1		benign(0.21)	p.R129H	NM_000106	NP_000097		deleterious(0.01)	0,1		CYP2D6	HGNC	Q6NWU0	Q6NWU0_HUMAN			Q6NWU0_HUMAN,Q007T9_HUMAN		3	476	-			UPI0000157756	129					SNV	CYP2D6,missense_variant,p.Arg129His,ENST00000360608,NM_000106.5;CYP2D6,missense_variant,p.Arg129His,ENST00000389970,;CYP2D6,intron_variant,,ENST00000359033,NM_001025161.2;NDUFA6-AS1,intron_variant,,ENST00000416037,;NDUFA6-AS1,intron_variant,,ENST00000439129,;NDUFA6-AS1,downstream_gene_variant,,ENST00000417327,;NDUFA6-AS1,downstream_gene_variant,,ENST00000595777,;NDUFA6-AS1,downstream_gene_variant,,ENST00000536447,;NDUFA6-AS1,upstream_gene_variant,,ENST00000608491,;NDUFA6-AS1,downstream_gene_variant,,ENST00000600968,;NDUFA6-AS1,upstream_gene_variant,,ENST00000608288,;NDUFA6-AS1,downstream_gene_variant,,ENST00000451451,;NDUFA6-AS1,downstream_gene_variant,,ENST00000434834,;NDUFA6-AS1,downstream_gene_variant,,ENST00000610250,;CYP2D6,non_coding_transcript_exon_variant,,ENST00000488442,;CYP2D6,intron_variant,,ENST00000360124,;NDUFA6-AS1,downstream_gene_variant,,ENST00000608643,;NDUFA6-AS1,downstream_gene_variant,,ENST00000547929,;NDUFA6-AS1,downstream_gene_variant,,ENST00000609499,;NDUFA6-AS1,downstream_gene_variant,,ENST00000609833,;RP4-669P10.19,upstream_gene_variant,,ENST00000417586,;	uc003bce.2	c.386G>A	501/1684	2	2			c.386G>A						22	SNP	c.(385-387)CGC>CAC	24	24			breast(1)|skin(1)	2	Broad	cytochrome P450, family 2, subfamily D,			42525154		0.687	ENSG00000100197	4096	g.chr22:42525154C>T			electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen							-0.204158	KEEP	4	0	-1	22	18	4	0	-1	6.412399	22	18	0.081081	1	0	0	0	0	1	0	0	0	--	--		0	T			uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Intron|CYP2D6_uc003bcf.2_Intron	110	GBM-06-6695-TP	p.R129H	C	CCTCTGCTCGCGCCACGCGGG	NM_000106	NP_000097	42525154	Q6NWU0	Q6NWU0_HUMAN	0			3	476	-	T	T			Missense_Mutation	129						
CYP2D6	0	broad.mit.edu	GRCh37	22	42524294	42524294	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360608.5:c.725G>A	p.Arg242His	p.R242H	ENST00000360608	NM_000106.5	242	cGc/cAc	0			1			T	R/H	uc003bce.2	protein_coding	YES	CCDS46721.1			725/1494									breast(1)|skin(1)	2	c.(724-726)CGC>CAC			hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF13,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	cytochrome P450, family 2, subfamily D,				ENSP00000353820		9-May	8.25E-06					1.51E-05			rs779730092,COSM1034747,COSM1034746	9-May	.		ENST00000360608	Transcript	1				electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	ENSG00000100197	g.chr22:42524294C>T	2625			MODERATE		1.325	low	getma.org/?cm=msa&ty=f&p=CP2D6_HUMAN&rb=34&re=494&var=R242H	getma.org/pdb.php?prot=CP2D6_HUMAN&from=34&to=494&var=R242H	getma.org/?cm=var&var=hg19,22,42524294,C,T&fts=all	R242H	--	--	1																																		uc003bcd.1_Intron|CYP2D6_uc010gyu.2_5'UTR|CYP2D6_uc003bcf.2_Missense_Mutation_p.R191H	0,1,1	1		benign(0.015)	p.R242H	NM_000106	NP_000097		tolerated(0.12)	0,1,1		CYP2D6	HGNC	Q6NWU0	Q6NWU0_HUMAN			Q6NWU0_HUMAN,Q007T9_HUMAN		5	815	-			UPI0000157756	242					SNV	CYP2D6,missense_variant,p.Arg242His,ENST00000360608,NM_000106.5;CYP2D6,missense_variant,p.Arg242His,ENST00000389970,;CYP2D6,missense_variant,p.Arg191His,ENST00000359033,NM_001025161.2;NDUFA6-AS1,intron_variant,,ENST00000416037,;NDUFA6-AS1,intron_variant,,ENST00000439129,;NDUFA6-AS1,downstream_gene_variant,,ENST00000417327,;NDUFA6-AS1,downstream_gene_variant,,ENST00000595777,;NDUFA6-AS1,downstream_gene_variant,,ENST00000536447,;NDUFA6-AS1,upstream_gene_variant,,ENST00000608491,;NDUFA6-AS1,downstream_gene_variant,,ENST00000600968,;NDUFA6-AS1,upstream_gene_variant,,ENST00000608288,;NDUFA6-AS1,downstream_gene_variant,,ENST00000451451,;NDUFA6-AS1,downstream_gene_variant,,ENST00000434834,;NDUFA6-AS1,downstream_gene_variant,,ENST00000610250,;CYP2D6,missense_variant,p.Arg131His,ENST00000360124,;CYP2D6,non_coding_transcript_exon_variant,,ENST00000488442,;NDUFA6-AS1,downstream_gene_variant,,ENST00000608643,;NDUFA6-AS1,downstream_gene_variant,,ENST00000547929,;NDUFA6-AS1,downstream_gene_variant,,ENST00000609499,;NDUFA6-AS1,downstream_gene_variant,,ENST00000609833,;RP4-669P10.19,upstream_gene_variant,,ENST00000417586,;	uc003bce.2	c.725G>A	840/1684	2	2			c.725G>A						22	SNP	c.(724-726)CGC>CAC	46	46			breast(1)|skin(1)	2	Broad	cytochrome P450, family 2, subfamily D,			42524294		0.607	ENSG00000100197	4096	g.chr22:42524294C>T			electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen							50.464161	KEEP	10	13	-1	30	33	10	13	-1	53.829643	30	33	0.273973	1	0	0	0	0	1	0	0	0	--	--		0	T			uc003bcd.1_Intron|CYP2D6_uc010gyu.2_5'UTR|CYP2D6_uc003bcf.2_Missense_Mutation_p.R191H	122	GBM-12-0692-TP	p.R242H	C	CTTTTGGAAGCGTAGGACCTT	NM_000106	NP_000097	42524294	Q6NWU0	Q6NWU0_HUMAN	0			5	815	-	T	T			Missense_Mutation	242						
CYP2D6	0	broad.mit.edu	GRCh37	22	42523567	42523567	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs61736517		TCGA-41-3393-01	TCGA-41-3393-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360608.5:c.1055A>G	p.His352Arg	p.H352R	ENST00000360608	NM_000106.5	352	cAc/cGc	0			1			C	H/R	uc003bce.2	protein_coding	YES	CCDS46721.1			1055/1494									breast(1)|skin(1)	2	c.(1054-1056)CAC>CGC			hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF13,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	cytochrome P450, family 2, subfamily D,				ENSP00000353820		9-Jul	0.00252	0.000877	0.00122		0.00444	0.00283	0.00333	0.00296	rs61736517,COSM1284397,COSM1284396	9-Jul	common_variant		ENST00000360608	Transcript	1				electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	ENSG00000100197	g.chr22:42523567T>C	2625			MODERATE		-0.39	neutral	getma.org/?cm=msa&ty=f&p=CP2D6_HUMAN&rb=34&re=494&var=H352R	getma.org/pdb.php?prot=CP2D6_HUMAN&from=34&to=494&var=H352R	getma.org/?cm=var&var=hg19,22,42523567,T,C&fts=all	H352R	--	--	1																																		uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Missense_Mutation_p.H46R|CYP2D6_uc003bcf.2_Missense_Mutation_p.H301R	0,1,1	1		benign(0.001)	p.H352R	NM_000106	NP_000097		tolerated(0.98)	0,1,1		CYP2D6	HGNC	Q6NWU0	Q6NWU0_HUMAN			Q6NWU0_HUMAN,Q007T9_HUMAN		7	1145	-			UPI0000157756	352					SNV	CYP2D6,missense_variant,p.His352Arg,ENST00000360608,NM_000106.5;CYP2D6,missense_variant,p.His352Arg,ENST00000389970,;CYP2D6,missense_variant,p.His301Arg,ENST00000359033,NM_001025161.2;NDUFA6-AS1,intron_variant,,ENST00000416037,;NDUFA6-AS1,intron_variant,,ENST00000439129,;NDUFA6-AS1,downstream_gene_variant,,ENST00000417327,;NDUFA6-AS1,downstream_gene_variant,,ENST00000595777,;NDUFA6-AS1,downstream_gene_variant,,ENST00000536447,;NDUFA6-AS1,upstream_gene_variant,,ENST00000608491,;NDUFA6-AS1,downstream_gene_variant,,ENST00000600968,;NDUFA6-AS1,upstream_gene_variant,,ENST00000608288,;NDUFA6-AS1,downstream_gene_variant,,ENST00000451451,;NDUFA6-AS1,downstream_gene_variant,,ENST00000434834,;NDUFA6-AS1,downstream_gene_variant,,ENST00000610250,;CYP2D6,3_prime_UTR_variant,,ENST00000360124,;CYP2D6,non_coding_transcript_exon_variant,,ENST00000488442,;NDUFA6-AS1,downstream_gene_variant,,ENST00000608643,;NDUFA6-AS1,downstream_gene_variant,,ENST00000547929,;NDUFA6-AS1,downstream_gene_variant,,ENST00000609499,;NDUFA6-AS1,downstream_gene_variant,,ENST00000609833,;RP4-669P10.19,upstream_gene_variant,,ENST00000417586,;	uc003bce.2	c.1055A>G	1170/1684	3	3			c.1055A>G						22	SNP	c.(1054-1056)CAC>CGC	4	4			breast(1)|skin(1)	2	Broad	cytochrome P450, family 2, subfamily D,			42523567		0.592	ENSG00000100197	4096	g.chr22:42523567T>C			electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen							-24.039572	KEEP	6	1	-1	65	86	6	1	-1	7.06818	65	86	0.037313	1	0	0	0	0	1	0	0	0	--	--		0	C			uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Missense_Mutation_p.H46R|CYP2D6_uc003bcf.2_Missense_Mutation_p.H301R	255	GBM-41-3393-TP	p.H352R	T	GTAGGGCATGTGAGCCTGGTC	NM_000106	NP_000097	42523567	Q6NWU0	Q6NWU0_HUMAN	0			7	1145	-	C	C			Missense_Mutation	352						
CYP2D6	1565		GRCh37	22	42523567	42523567	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000360608.5:c.1055A>G	p.His352Arg	p.H352R	ENST00000360608	NM_000106.5	352	cAc/cGc	0																																																																																																																																																																																																																																												
CYP2E1	0	broad.mit.edu	GRCh37	10	135351261	135351261	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-19-2629-01	TCGA-19-2629-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252945.3:c.1162G>C	p.Val388Leu	p.V388L	ENST00000252945	NM_000773.3	388	Gtc/Ctc	0			1			C	V/L	uc001lnj.1	protein_coding		CCDS7686.1			1162/1482									central_nervous_system(3)	3	c.(1162-1164)GTC>CTC			hmmpanther:PTHR24300:SF19,hmmpanther:PTHR24300,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	cytochrome P450, family 2, subfamily E,	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)			ENSP00000252945		9-Aug									COSM2156359	9-Aug	.	Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	ENST00000252945	Transcript			drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding	ENSG00000130649	g.chr10:135351261G>C	2631			MODERATE		0.595	neutral	getma.org/?cm=msa&ty=f&p=CP2E1_HUMAN&rb=33&re=489&var=V388L	getma.org/pdb.php?prot=CP2E1_HUMAN&from=33&to=489&var=V388L	getma.org/?cm=var&var=hg19,10,135351261,G,C&fts=all	V388L	--	--	1																																		CYP2E1_uc001lnk.1_Missense_Mutation_p.V251L|CYP2E1_uc009ybl.1_Missense_Mutation_p.V189L|CYP2E1_uc009ybm.1_Missense_Mutation_p.V42L|CYP2E1_uc001lnl.1_Missense_Mutation_p.V189L	1			benign(0.017)	p.V388L	NM_000773	NP_000764		deleterious(0.03)	1	CP2E1_HUMAN	CYP2E1	HGNC	P05181	CP2E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Q4LBD0_HUMAN,F5H694_HUMAN		8	1195	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	UPI0000128291	388					SNV	CYP2E1,missense_variant,p.Val388Leu,ENST00000463117,;CYP2E1,missense_variant,p.Val388Leu,ENST00000252945,NM_000773.3;CYP2E1,missense_variant,p.Val301Leu,ENST00000421586,;CYP2E1,missense_variant,p.Val251Leu,ENST00000418356,;SPRN,intron_variant,,ENST00000541506,;CYP2E1,non_coding_transcript_exon_variant,,ENST00000469258,;CYP2E1,downstream_gene_variant,,ENST00000477500,;CYP2E1,3_prime_UTR_variant,,ENST00000541080,;CYP2E1,non_coding_transcript_exon_variant,,ENST00000368520,;	uc001lnj.1	c.1162G>C	1195/1667	3	3			c.1162G>C						10	SNP	c.(1162-1164)GTC>CTC	5	5			central_nervous_system(3)	3	Broad	cytochrome P450, family 2, subfamily E,		Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	135351261	Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	0.398	ENSG00000130649	4097	g.chr10:135351261G>C	drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding							54.81938	KEEP	10	8	-1	17	22	10	8	-1	56.09374	17	22	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	C			CYP2E1_uc001lnk.1_Missense_Mutation_p.V251L|CYP2E1_uc009ybl.1_Missense_Mutation_p.V189L|CYP2E1_uc009ybm.1_Missense_Mutation_p.V42L|CYP2E1_uc001lnl.1_Missense_Mutation_p.V189L	166	GBM-19-2629-TP	p.V388L	G	CTAGGGCACAGTCGTAGTGCC	NM_000773	NP_000764	135351261	P05181	CP2E1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	8	1195	+	C	C		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	Missense_Mutation	388						
CYP2F1	1572		GRCh37	19	41622139	41622139	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000331105.2:c.46G>A	p.Val16Ile	p.V16I	ENST00000331105	NM_000774.3	16	Gtc/Atc	0																																																																																																																																																																																																																																												
CYP2S1	29785	broad.mit.edu	GRCh37	19	41700569	41700569	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01	TCGA-06-0174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310054.4:c.298G>A	p.Gly100Ser	p.G100S	ENST00000310054	NM_030622.6	100	Ggc/Agc	0			1			A	G/S	uc002opw.2	protein_coding	YES	CCDS12573.1			298/1515									skin(1)	1	c.(298-300)GGC>AGC			hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF23,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	cytochrome P450, family 2, subfamily S,				ENSP00000308032		9-Feb	0.00014				0.000152	0.00024			rs199728850,COSM298259	9-Feb	.		ENST00000310054	Transcript			xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity	ENSG00000167600	g.chr19:41700569G>A	15654			MODERATE		1.56	low	getma.org/?cm=msa&ty=f&p=CP2S1_HUMAN&rb=33&re=492&var=G100S	getma.org/pdb.php?prot=CP2S1_HUMAN&from=33&to=492&var=G100S	getma.org/?cm=var&var=hg19,19,41700569,G,A&fts=all	G100S	--	--	1																																		CYP2F1_uc010xvw.1_Intron|CYP2S1_uc010xvx.1_5'UTR	0,1	1		probably_damaging(1)	p.G100S	NM_030622	NP_085125		deleterious(0.02)	0,1	CP2S1_HUMAN	CYP2S1	HGNC	Q96SQ9	CP2S1_HUMAN					2	353	+			UPI00000467C9	100					SNV	CYP2S1,missense_variant,p.Gly100Ser,ENST00000310054,NM_030622.6;CYP2S1,missense_variant,p.Gly100Ser,ENST00000600561,;CYP2S1,5_prime_UTR_variant,,ENST00000542619,;CYP2S1,intron_variant,,ENST00000597754,;RN7SL718P,upstream_gene_variant,,ENST00000581254,;CYP2S1,missense_variant,p.Gly100Ser,ENST00000593545,;CYP2S1,5_prime_UTR_variant,,ENST00000595590,;	uc002opw.2	c.298G>A	514/2782	1	1			c.298G>A						19	SNP	c.(298-300)GGC>AGC	64	64			skin(1)	1	Broad	cytochrome P450, family 2, subfamily S,			41700569		0.592	ENSG00000167600	4101	g.chr19:41700569G>A	xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity							159.090019	KEEP	34	32	-1	74	53	34	32	-1	162.364706	74	53	0.344156	1	0	0	0	0	1	0	0	0	--	--		0	A			CYP2F1_uc010xvw.1_Intron|CYP2S1_uc010xvx.1_5'UTR	37	GBM-06-0174-TP	p.G100S	G	GGAGTTCAGCGGCCGGGGAAC	NM_030622	NP_085125	41700569	Q96SQ9	CP2S1_HUMAN	0			2	353	+	A	A			Missense_Mutation	100						
CYP2U1	0	broad.mit.edu	GRCh37	4	108866315	108866315	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0871-01	TCGA-14-0871-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332884.6:c.680C>T	p.Ala227Val	p.A227V	ENST00000332884	NM_183075.2	227	gCc/gTc	0			1			T	A/V	uc003hyp.2	protein_coding	YES	CCDS34047.1			680/1635										0	c.(679-681)GCC>GTC			hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF51,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00463,Prints_domain:PR01686	cytochrome P450, family 2, subfamily U,				ENSP00000333212		5-Feb									COSM2953279	5-Feb	.		ENST00000332884	Transcript	1		xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	ENSG00000155016	g.chr4:108866315C>T	20582			MODERATE		2.645	medium	getma.org/?cm=msa&ty=f&p=CP2U1_HUMAN&rb=101&re=541&var=A227V	getma.org/pdb.php?prot=CP2U1_HUMAN&from=101&to=541&var=A227V	getma.org/?cm=var&var=hg19,4,108866315,C,T&fts=all	A227V	--	--	1																																		CYP2U1_uc011cfi.1_Missense_Mutation_p.A18V	1	1		possibly_damaging(0.531)	p.A227V	NM_183075	NP_898898		deleterious(0)	1	CP2U1_HUMAN	CYP2U1	HGNC	Q7Z449	CP2U1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000128)	E9PGH5_HUMAN,B4DQW9_HUMAN		2	763	+		Hepatocellular(203;0.217)	UPI0000044231	227					SNV	CYP2U1,missense_variant,p.Ala227Val,ENST00000332884,NM_183075.2;CYP2U1,missense_variant,p.Ala18Val,ENST00000508453,;RP11-286E11.1,intron_variant,,ENST00000513071,;RP11-286E11.2,upstream_gene_variant,,ENST00000512428,;	uc003hyp.2	c.680C>T	955/4944	2	2			c.680C>T						4	SNP	c.(679-681)GCC>GTC	24	24				0	Broad	cytochrome P450, family 2, subfamily U,			108866315		0.438	ENSG00000155016	4102	g.chr4:108866315C>T	xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding							-68.583906	KEEP	3	4	-1	157	159	3	4	-1	9.78729	157	159	0.019802	1	0	0	0	0	1	0	0	0	--	--		0	T			CYP2U1_uc011cfi.1_Missense_Mutation_p.A18V	141	GBM-14-0871-TP	p.A227V	C	ATCAGCAATGCCGTCTCTAAC	NM_183075	NP_898898	108866315	Q7Z449	CP2U1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;0.000128)	2	763	+	T	T		Hepatocellular(203;0.217)	Missense_Mutation	227						
CYP3A4	0	broad.mit.edu	GRCh37	7	99366124	99366124	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01	TCGA-14-2554-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336411.2:c.523G>A	p.Val175Ile	p.V175I	ENST00000336411	NM_001202855.2	175	Gtc/Atc	0		T:0	1	T:0		T	V/I	uc003urv.1	protein_coding	YES	CCDS5674.1			523/1512									central_nervous_system(3)|ovary(1)	4	c.(523-525)GTC>ATC			hmmpanther:PTHR24302,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264,Prints_domain:PR01689	cytochrome P450, family 3, subfamily A,	Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	T:0		ENSP00000337915	T:0.001	13-Jul	4.94E-05					7.49E-05		6.06E-05	rs547453529,COSM3412566	13-Jul	.		ENST00000336411	Transcript	1	T:0.0002	alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity	ENSG00000160868	g.chr7:99366124C>T	2637			MODERATE		-0.32	neutral	getma.org/?cm=msa&ty=f&p=CP3A4_HUMAN&rb=38&re=493&var=V175I	getma.org/pdb.php?prot=CP3A4_HUMAN&from=38&to=493&var=V175I	getma.org/?cm=var&var=hg19,7,99366124,C,T&fts=all	V175I	--	--	1																																		CYP3A4_uc003urw.1_Missense_Mutation_p.V175I|CYP3A4_uc011kiz.1_Missense_Mutation_p.V134I|CYP3A4_uc011kja.1_Missense_Mutation_p.V126I|CYP3A4_uc011kjb.1_Missense_Mutation_p.V25I	0,1	1		benign(0.002)	p.V175I	NM_017460	NP_059488	T:0	tolerated(1)	0,1	CP3A4_HUMAN	CYP3A4	HGNC	P08684	CP3A4_HUMAN			Q9BZM0_HUMAN,Q7Z448_HUMAN,Q6GRK0_HUMAN,B4DPQ5_HUMAN		7	627	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		UPI000013E0B7	175					SNV	CYP3A4,missense_variant,p.Val25Ile,ENST00000354593,;CYP3A4,missense_variant,p.Val175Ile,ENST00000336411,NM_001202855.2,NM_017460.5;CYP3A4,downstream_gene_variant,,ENST00000415003,;RP11-757A13.1,downstream_gene_variant,,ENST00000608397,;CYP3A4,downstream_gene_variant,,ENST00000480043,;	uc003urv.1	c.523G>A	707/2153	2	2			c.523G>A						7	SNP	c.(523-525)GTC>ATC	30	30			central_nervous_system(3)|ovary(1)	4	Broad	cytochrome P450, family 3, subfamily A,		Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	99366124		0.448	ENSG00000160868	4105	g.chr7:99366124C>T	alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity		p.V175I(KASUMI2-Tumor)	219		p.V175I(KASUMI2-Tumor)	219	159.891709	KEEP	44	20	-1	102	95	44	20	-1	171.503726	102	95	0.264069	1	0	0	0	0	1	0	0	0	--	--		0	T			CYP3A4_uc003urw.1_Missense_Mutation_p.V175I|CYP3A4_uc011kiz.1_Missense_Mutation_p.V134I|CYP3A4_uc011kja.1_Missense_Mutation_p.V126I|CYP3A4_uc011kjb.1_Missense_Mutation_p.V25I	150	GBM-14-2554-TP	p.V175I	C	GCCCCAAAGACGCTGAGTGGA	NM_017460	NP_059488	99366124	P08684	CP3A4_HUMAN	0			7	627	-	T	T	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		Missense_Mutation	175						
CYP3A4	1576		GRCh37	7	99359709	99359709	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000336411.2:c.1208G>A	p.Arg403His	p.R403H	ENST00000336411	NM_001202855.2	403	cGt/cAt	0																																																																																																																																																																																																																																												
CYP3A5	1577	broad.mit.edu	GRCh37	7	99262902	99262902	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-5410-01	TCGA-06-5410-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222982.4:c.557G>C	p.Gly186Ala	p.G186A	ENST00000222982	NM_000777.3	186	gGc/gCc	0			1			G	G/A	uc003urq.2	protein_coding	YES	CCDS5672.1			557/1509										0	c.(556-558)GGC>GCC			Gene3D:1.10.630.10,Pfam_domain:PF00067,Prints_domain:PR00464,hmmpanther:PTHR24302,hmmpanther:PTHR24302:SF3,Superfamily_domains:SSF48264	cytochrome P450, family 3, subfamily A,	Alfentanil(DB00802)|Clopidogrel(DB00758)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Indinavir(DB00224)|Irinotecan(DB00762)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Mephenytoin(DB00532)|Midazolam(DB00683)|Mifepristone(DB00834)|Phenytoin(DB00252)|Quinine(DB00468)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Troleandomycin(DB01361)|Verapamil(DB00661)|Vincristine(DB00541)			ENSP00000222982		13-Jul									COSM3412560,COSM3412561	13-Jul	.		ENST00000222982	Transcript	1		alkaloid catabolic process|drug catabolic process|oxidative demethylation|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	ENSG00000106258	g.chr7:99262902C>G	2638			MODERATE		0.015	neutral	getma.org/?cm=msa&ty=f&p=CP3A5_HUMAN&rb=38&re=492&var=G186A	getma.org/pdb.php?prot=CP3A5_HUMAN&from=38&to=492&var=G186A	getma.org/?cm=var&var=hg19,7,99262902,C,G&fts=all	G186A	--	--	1																																		ZNF498_uc003urn.2_Intron|CYP3A5_uc003urp.2_Missense_Mutation_p.G6A|CYP3A5_uc003urr.2_Missense_Mutation_p.G73A|CYP3A5_uc011kiy.1_Missense_Mutation_p.G176A|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	1,1	1		benign(0.015)	p.G186A	NM_000777	NP_000768		tolerated(0.16)	1,1	CP3A5_HUMAN	CYP3A5	HGNC	P20815	CP3A5_HUMAN			Q96RK6_HUMAN,Q7Z447_HUMAN,Q7Z446_HUMAN		7	644	-	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)		UPI000000163D	186					SNV	CYP3A5,missense_variant,p.Gly176Ala,ENST00000343703,;CYP3A5,missense_variant,p.Gly186Ala,ENST00000222982,NM_000777.3;CYP3A5,3_prime_UTR_variant,,ENST00000339843,;CYP3A5,downstream_gene_variant,,ENST00000480723,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000469887,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000481825,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000461920,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000463364,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000466061,;CYP3A5,upstream_gene_variant,,ENST00000473347,;CYP3A5,upstream_gene_variant,,ENST00000488187,;	uc003urq.2	c.557G>C	657/1720	3	3			c.557G>C						7	SNP	c.(556-558)GGC>GCC	63	63				0	Broad	cytochrome P450, family 3, subfamily A,		Alfentanil(DB00802)|Clopidogrel(DB00758)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Indinavir(DB00224)|Irinotecan(DB00762)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Mephenytoin(DB00532)|Midazolam(DB00683)|Mifepristone(DB00834)|Phenytoin(DB00252)|Quinine(DB00468)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Troleandomycin(DB01361)|Verapamil(DB00661)|Vincristine(DB00541)	99262902		0.418	ENSG00000106258	4107	g.chr7:99262902C>G	alkaloid catabolic process|drug catabolic process|oxidative demethylation|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding							4.249725	KEEP	4	6	-1	73	64	4	6	-1	27.269292	73	64	0.07874	1	0	0	0	0	1	0	0	0	--	--		0	G			ZNF498_uc003urn.2_Intron|CYP3A5_uc003urp.2_Missense_Mutation_p.G6A|CYP3A5_uc003urr.2_Missense_Mutation_p.G73A|CYP3A5_uc011kiy.1_Missense_Mutation_p.G176A|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	93	GBM-06-5410-TP	p.G186A	C	AAATGATGTGCCAGTAATCAC	NM_000777	NP_000768	99262902	P20815	CP3A5_HUMAN	0			7	644	-	G	G	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)		Missense_Mutation	186						
CYP3A5	0	broad.mit.edu	GRCh37	7	99277452	99277452	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-2625-01	TCGA-19-2625-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222982.4:c.68A>G	p.Tyr23Cys	p.Y23C	ENST00000222982	NM_000777.3	23	tAt/tGt	0			1			C	Y/C	uc003urq.2	protein_coding	YES	CCDS5672.1			68/1509										0	c.(67-69)TAT>TGT			Gene3D:1.10.630.10,Prints_domain:PR01689,hmmpanther:PTHR24302,hmmpanther:PTHR24302:SF3,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	cytochrome P450, family 3, subfamily A,	Alfentanil(DB00802)|Clopidogrel(DB00758)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Indinavir(DB00224)|Irinotecan(DB00762)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Mephenytoin(DB00532)|Midazolam(DB00683)|Mifepristone(DB00834)|Phenytoin(DB00252)|Quinine(DB00468)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Troleandomycin(DB01361)|Verapamil(DB00661)|Vincristine(DB00541)			ENSP00000222982		13-Jan									COSM3412564	13-Jan	.		ENST00000222982	Transcript	1		alkaloid catabolic process|drug catabolic process|oxidative demethylation|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	ENSG00000106258	g.chr7:99277452T>C	2638			MODERATE		1.81	low	getma.org/?cm=msa&ty=f&p=CP3A5_HUMAN&rb=1&re=37&var=Y23C	NA	getma.org/?cm=var&var=hg19,7,99277452,T,C&fts=all	Y23C	--	--	1																																		ZNF498_uc003urn.2_Intron|CYP3A5_uc003urr.2_5'UTR|CYP3A5_uc011kiy.1_5'UTR|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron|CYP3A5_uc003urt.2_Missense_Mutation_p.Y23C	1	1		possibly_damaging(0.894)	p.Y23C	NM_000777	NP_000768		deleterious(0.01)	1	CP3A5_HUMAN	CYP3A5	HGNC	P20815	CP3A5_HUMAN			Q96RK6_HUMAN,Q7Z447_HUMAN,Q7Z446_HUMAN		1	155	-	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)		UPI000000163D	23					SNV	CYP3A5,missense_variant,p.Tyr23Cys,ENST00000339843,;CYP3A5,missense_variant,p.Tyr23Cys,ENST00000222982,NM_000777.3;CYP3A5,missense_variant,p.Tyr23Cys,ENST00000439761,NM_001190484.1;CYP3A5,5_prime_UTR_variant,,ENST00000343703,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000480723,;CYP3A5,missense_variant,p.Tyr23Cys,ENST00000456417,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000481825,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000461920,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000463364,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000463907,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000466061,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000489231,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000469622,;CYP3A5,upstream_gene_variant,,ENST00000469887,;	uc003urq.2	c.68A>G	168/1720	3	3			c.68A>G						7	SNP	c.(67-69)TAT>TGT	49	49				0	Broad	cytochrome P450, family 3, subfamily A,		Alfentanil(DB00802)|Clopidogrel(DB00758)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Indinavir(DB00224)|Irinotecan(DB00762)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Mephenytoin(DB00532)|Midazolam(DB00683)|Mifepristone(DB00834)|Phenytoin(DB00252)|Quinine(DB00468)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Troleandomycin(DB01361)|Verapamil(DB00661)|Vincristine(DB00541)	99277452		0.488	ENSG00000106258	4107	g.chr7:99277452T>C	alkaloid catabolic process|drug catabolic process|oxidative demethylation|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding							-25.884184	KEEP	4	0	-1	83	70	4	0	-1	8.900229	83	70	0.028169	1	0	0	0	0	1	0	0	0	--	--		0	C			ZNF498_uc003urn.2_Intron|CYP3A5_uc003urr.2_5'UTR|CYP3A5_uc011kiy.1_5'UTR|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron|CYP3A5_uc003urt.2_Missense_Mutation_p.Y23C	165	GBM-19-2625-TP	p.Y23C	T	TACTCACAGATAGAGGAGCAC	NM_000777	NP_000768	99277452	P20815	CP3A5_HUMAN	0			1	155	-	C	C	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)		Missense_Mutation	23						
CYP3A5	0	broad.mit.edu	GRCh37	7	99264589	99264589	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5960-01	TCGA-19-5960-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222982.4:c.418G>A	p.Gly140Arg	p.G140R	ENST00000222982	NM_000777.3	140	Gga/Aga	0			1			T	G/R	uc003urq.2	protein_coding	YES	CCDS5672.1			418/1509										0	c.(418-420)GGA>AGA			Gene3D:1.10.630.10,Pfam_domain:PF00067,Prints_domain:PR00464,hmmpanther:PTHR24302,hmmpanther:PTHR24302:SF3,Superfamily_domains:SSF48264	cytochrome P450, family 3, subfamily A,	Alfentanil(DB00802)|Clopidogrel(DB00758)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Indinavir(DB00224)|Irinotecan(DB00762)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Mephenytoin(DB00532)|Midazolam(DB00683)|Mifepristone(DB00834)|Phenytoin(DB00252)|Quinine(DB00468)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Troleandomycin(DB01361)|Verapamil(DB00661)|Vincristine(DB00541)			ENSP00000222982		13-May	1.65E-05					3.00E-05			rs764608096,COSM3412562,COSM3412563	13-May	.		ENST00000222982	Transcript	1		alkaloid catabolic process|drug catabolic process|oxidative demethylation|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	ENSG00000106258	g.chr7:99264589C>T	2638			MODERATE		3.43	medium	getma.org/?cm=msa&ty=f&p=CP3A5_HUMAN&rb=38&re=492&var=G140R	getma.org/pdb.php?prot=CP3A5_HUMAN&from=38&to=492&var=G140R	getma.org/?cm=var&var=hg19,7,99264589,C,T&fts=all	G140R	--	--	1																																		ZNF498_uc003urn.2_Intron|CYP3A5_uc003urp.2_5'UTR|CYP3A5_uc003urr.2_Missense_Mutation_p.G27R|CYP3A5_uc011kiy.1_Missense_Mutation_p.G130R|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	0,1,1	1		possibly_damaging(0.839)	p.G140R	NM_000777	NP_000768		deleterious(0.02)	0,1,1	CP3A5_HUMAN	CYP3A5	HGNC	P20815	CP3A5_HUMAN			Q96RK6_HUMAN,Q7Z447_HUMAN,Q7Z446_HUMAN		5	505	-	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)		UPI000000163D	140					SNV	CYP3A5,missense_variant,p.Gly130Arg,ENST00000343703,;CYP3A5,missense_variant,p.Gly140Arg,ENST00000222982,NM_000777.3;CYP3A5,3_prime_UTR_variant,,ENST00000339843,;CYP3A5,downstream_gene_variant,,ENST00000439761,NM_001190484.1;CYP3A5,non_coding_transcript_exon_variant,,ENST00000480723,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000469887,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000481825,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000461920,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000463364,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000466061,;CYP3A5,upstream_gene_variant,,ENST00000473347,;CYP3A5,downstream_gene_variant,,ENST00000463907,;	uc003urq.2	c.418G>A	518/1720	1	1			c.418G>A						7	SNP	c.(418-420)GGA>AGA	2	2				0	Broad	cytochrome P450, family 3, subfamily A,		Alfentanil(DB00802)|Clopidogrel(DB00758)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Indinavir(DB00224)|Irinotecan(DB00762)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Mephenytoin(DB00532)|Midazolam(DB00683)|Mifepristone(DB00834)|Phenytoin(DB00252)|Quinine(DB00468)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Troleandomycin(DB01361)|Verapamil(DB00661)|Vincristine(DB00541)	99264589		0.413	ENSG00000106258	4107	g.chr7:99264589C>T	alkaloid catabolic process|drug catabolic process|oxidative demethylation|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding							-14.456151	KEEP	1	2	-1	44	56	1	2	-1	6.352328	44	56	0.034091	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF498_uc003urn.2_Intron|CYP3A5_uc003urp.2_5'UTR|CYP3A5_uc003urr.2_Missense_Mutation_p.G27R|CYP3A5_uc011kiy.1_Missense_Mutation_p.G130R|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	178	GBM-19-5960-TP	p.G140R	C	TTGAGTTTTCCGCTGGTGAAG	NM_000777	NP_000768	99264589	P20815	CP3A5_HUMAN	0			5	505	-	T	T	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)		Missense_Mutation	140						
CYP3A5	1577		GRCh37	7	99261679	99261679	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000222982.4:c.710A>C	p.Asn237Thr	p.N237T	ENST00000222982	NM_000777.3	237	aAt/aCt	0																																																																																																																																																																																																																																												
CYP3A7	0	broad.mit.edu	GRCh37	7	99332692	99332692	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01	TCGA-14-1450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336374.2:c.25G>A	p.Val9Met	p.V9M	ENST00000336374	NM_000765.3	9	Gtg/Atg	0			1			T	V/M	uc003urs.2	protein_coding	YES	CCDS5673.1			25/1512										0	c.(-78--74)CCGTG>CCATG			Transmembrane_helices:TMhelix,hmmpanther:PTHR24302	SubName: Full=Cytochrome P450; Flags: Fragment;	Alfentanil(DB00802)|Clopidogrel(DB00758)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Indinavir(DB00224)|Irinotecan(DB00762)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Mephenytoin(DB00532)|Midazolam(DB00683)|Mifepristone(DB00834)|Phenytoin(DB00252)|Quinine(DB00468)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Troleandomycin(DB01361)|Verapamil(DB00661)|Vincristine(DB00541)			ENSP00000337450		13-Jan	2.47E-05		0.000173					6.06E-05	rs774768130,COSM2867495	13-Jan	.		ENST00000336374	Transcript			alkaloid catabolic process|drug catabolic process|oxidative demethylation|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	ENSG00000160870	g.chr7:99332692C>T	2640			MODERATE		-0.66	neutral	getma.org/?cm=msa&ty=f&p=CP3A7_HUMAN&rb=1&re=37&var=V9M	NA	getma.org/?cm=var&var=hg19,7,99332692,C,T&fts=all	V9M	--	--	1																																		ZNF498_uc003urn.2_Intron|CYP3A5_uc010lgg.2_Missense_Mutation_p.V9M|CYP3A7_uc003uru.2_Missense_Mutation_p.V9M	0,1	1		benign(0.001)					tolerated(0.93)	0,1	CP3A7_HUMAN	CYP3A7	HGNC	P20815	CP3A5_HUMAN					1	130	-	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)		UPI000013F283						SNV	CYP3A7,missense_variant,p.Val9Met,ENST00000336374,NM_000765.3;CYP3A7,non_coding_transcript_exon_variant,,ENST00000467776,;	uc003urs.2	c.-76G>A	28/1971	2	2			c.-76G>A						7	SNP	c.(-78--74)CCGTG>CCATG	24	24				0	Broad	SubName: Full=Cytochrome P450; Flags: Fragment;		Alfentanil(DB00802)|Clopidogrel(DB00758)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Indinavir(DB00224)|Irinotecan(DB00762)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Mephenytoin(DB00532)|Midazolam(DB00683)|Mifepristone(DB00834)|Phenytoin(DB00252)|Quinine(DB00468)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Troleandomycin(DB01361)|Verapamil(DB00661)|Vincristine(DB00541)	99332692		0.498	ENSG00000160870	4107	g.chr7:99332692C>T	alkaloid catabolic process|drug catabolic process|oxidative demethylation|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding							47.067883	KEEP	13	15	-1	68	65	13	15	-1	60.456408	68	65	0.183099	1	0	0	0	0	0	0	0	0	--	--		0	T			ZNF498_uc003urn.2_Intron|CYP3A5_uc010lgg.2_Missense_Mutation_p.V9M|CYP3A7_uc003uru.2_Missense_Mutation_p.V9M	145	GBM-14-1450-TP		C	CAGGTTTCCACGGCCAAGTTT			99332692	P20815	CP3A5_HUMAN	0			1	130	-	T	T	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)		Translation_Start_Site							
CYP46A1	0	broad.mit.edu	GRCh37	14	100166408	100166408	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2624-01	TCGA-19-2624-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261835.3:c.413G>A	p.Arg138Gln	p.R138Q	ENST00000261835	NM_006668.1	138	cGg/cAg	0			1			A	R/Q	uc001ygo.2	protein_coding	YES	CCDS9954.1			413/1503										0	c.(412-414)CGG>CAG			hmmpanther:PTHR24293,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	cytochrome P450, family 46				ENSP00000261835		15-May									COSM2156242	15-May	.		ENST00000261835	Transcript			bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	ENSG00000036530	g.chr14:100166408G>A	2641			MODERATE		2.375	medium	getma.org/?cm=msa&ty=f&p=CP46A_HUMAN&rb=34&re=484&var=R138Q	getma.org/pdb.php?prot=CP46A_HUMAN&from=34&to=484&var=R138Q	getma.org/?cm=var&var=hg19,14,100166408,G,A&fts=all	R138Q	--	--	1																																		CYP46A1_uc001ygn.1_Missense_Mutation_p.R100Q	1	1		probably_damaging(0.999)	p.R138Q	NM_006668	NP_006659		deleterious(0)	1	CP46A_HUMAN	CYP46A1	HGNC	Q9Y6A2	CP46A_HUMAN			B4DHP8_HUMAN		5	413	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	UPI00001281DC	138					SNV	CYP46A1,missense_variant,p.Arg138Gln,ENST00000261835,NM_006668.1;CYP46A1,missense_variant,p.Arg41Gln,ENST00000423126,;CYP46A1,missense_variant,p.Arg125Gln,ENST00000380228,;CYP46A1,3_prime_UTR_variant,,ENST00000554611,;	uc001ygo.2	c.413G>A	517/2181	2	2			c.413G>A						14	SNP	c.(412-414)CGG>CAG	30	30				0	Broad	cytochrome P450, family 46			100166408		0.592	ENSG00000036530	4109	g.chr14:100166408G>A	bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity							60.677861	KEEP	10	15	-1	24	28	10	15	-1	62.680143	24	28	0.3125	1	0	0	0	0	1	0	0	0	--	--		0	A			CYP46A1_uc001ygn.1_Missense_Mutation_p.R100Q	164	GBM-19-2624-TP	p.R138Q	G	CACAAGCAGCGGAGAGTCATA	NM_006668	NP_006659	100166408	Q9Y6A2	CP46A_HUMAN	0			5	413	+	A	A		Melanoma(154;0.0866)|all_epithelial(191;0.179)	Missense_Mutation	138						
CYP4A11	1579	broad.mit.edu	GRCh37	1	47399686	47399686	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs66477740		TCGA-06-0168-01	TCGA-06-0168-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310638.4:c.1154C>T	p.Pro385Leu	p.P385L	ENST00000310638	NM_000778.3	385	cCg/cTg	0			1			A	P/L	uc001cqp.3	protein_coding	YES	CCDS543.1			1154/1560									ovary(2)|skin(2)	4	c.(1153-1155)CCG>CTG			Gene3D:1.10.630.10,Pfam_domain:PF00067,Prints_domain:PR00385,hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF67,Superfamily_domains:SSF48264	cytochrome P450, family 4, subfamily A,	NADH(DB00157)			ENSP00000311095		12-Sep	7.41E-05		8.76E-05			1.51E-05		0.000432	rs66477740,COSM2150236	12-Sep	common_variant		ENST00000310638	Transcript			long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	ENSG00000187048	g.chr1:47399686G>A	2642			MODERATE		2.855	medium	getma.org/?cm=msa&ty=f&p=CP4AB_HUMAN&rb=51&re=505&var=P385L	getma.org/pdb.php?prot=CP4AB_HUMAN&from=51&to=505&var=P385L	getma.org/?cm=var&var=hg19,1,47399686,G,A&fts=all	P385L	--	--	1																																		CYP4A11_uc001cqq.2_Missense_Mutation_p.P385L|CYP4A11_uc010omm.1_RNA	0,1	1		possibly_damaging(0.808)	p.P385L	NM_000778	NP_000769		deleterious(0.02)	0,1	CP4AB_HUMAN	CYP4A11	HGNC	Q02928	CP4AB_HUMAN					9	1205	-			UPI00001281E4	385					SNV	CYP4A11,missense_variant,p.Pro385Leu,ENST00000310638,NM_000778.3;CYP4A11,missense_variant,p.Pro287Leu,ENST00000462347,;CYP4A11,missense_variant,p.Pro386Leu,ENST00000371904,;CYP4A11,missense_variant,p.Pro385Leu,ENST00000371905,;CYP4A11,3_prime_UTR_variant,,ENST00000457840,;CYP4A11,non_coding_transcript_exon_variant,,ENST00000496519,;CYP4A11,missense_variant,p.Pro353Leu,ENST00000468629,;CYP4A11,3_prime_UTR_variant,,ENST00000475477,;CYP4A11,intron_variant,,ENST00000465874,;CYP4A11,intron_variant,,ENST00000474458,;	uc001cqp.3	c.1154C>T	1186/2530	2	2			c.1154C>T						1	SNP	c.(1153-1155)CCG>CTG	42	42			ovary(2)|skin(2)	4	Broad	cytochrome P450, family 4, subfamily A,		NADH(DB00157)	47399686		0.567	ENSG00000187048	4110	g.chr1:47399686G>A	long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding							162.836701	KEEP	30	23	-1	24	27	30	23	-1	162.898446	24	27	0.52809	1	0	0	0	0	1	0	0	0	--	--		0	A			CYP4A11_uc001cqq.2_Missense_Mutation_p.P385L|CYP4A11_uc010omm.1_RNA	33	GBM-06-0168-TP	p.P385L	G	GCCTGGCACCGGTGGGTAGAG	NM_000778	NP_000769	47399686	Q02928	CP4AB_HUMAN	0			9	1205	-	A	A			Missense_Mutation	385						
CYP4A11	1579	broad.mit.edu	GRCh37	1	47406941	47406941	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0213-01	TCGA-06-0213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310638.4:c.165C>T	p.Pro55=	p.P55=	ENST00000310638	NM_000778.3	55	ccC/ccT	0			1			A	P	uc001cqp.3	protein_coding	YES	CCDS543.1			165/1560									ovary(2)|skin(2)	4	c.(163-165)CCC>CCT			Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF67,Superfamily_domains:SSF48264	cytochrome P450, family 4, subfamily A,	NADH(DB00157)			ENSP00000311095		12-Jan									COSM2150851	12-Jan	.		ENST00000310638	Transcript			long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	ENSG00000187048	g.chr1:47406941G>A	2642			LOW								--	--	1																																		CYP4A11_uc001cqq.2_Silent_p.P55P|CYP4A11_uc010omm.1_RNA	1	1			p.P55P	NM_000778	NP_000769			1	CP4AB_HUMAN	CYP4A11	HGNC	Q02928	CP4AB_HUMAN					1	216	-			UPI00001281E4	55					SNV	CYP4A11,synonymous_variant,p.=,ENST00000310638,NM_000778.3;CYP4A11,synonymous_variant,p.=,ENST00000462347,;CYP4A11,synonymous_variant,p.=,ENST00000371904,;CYP4A11,synonymous_variant,p.=,ENST00000371905,;CYP4A11,5_prime_UTR_variant,,ENST00000457840,;CYP4A11,synonymous_variant,p.=,ENST00000475477,;CYP4A11,synonymous_variant,p.=,ENST00000465874,;CYP4A11,synonymous_variant,p.=,ENST00000468629,;CYP4A11,synonymous_variant,p.=,ENST00000474458,;	uc001cqp.3	c.165C>T	197/2530	2	2			c.165C>T						1	SNP	c.(163-165)CCC>CCT	33	33			ovary(2)|skin(2)	4	Broad	cytochrome P450, family 4, subfamily A,		NADH(DB00157)	47406941		0.597	ENSG00000187048	4110	g.chr1:47406941G>A	long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding							184.361793	KEEP	37	29	-1	64	46	37	29	-1	186.46044	64	46	0.377358	1	0	0	0	0	0	0	1	0	--	--		0	A			CYP4A11_uc001cqq.2_Silent_p.P55P|CYP4A11_uc010omm.1_RNA	49	GBM-06-0213-TP	p.P55P	G	GCCAGTGGGAGGGAGGGCACG	NM_000778	NP_000769	47406941	Q02928	CP4AB_HUMAN	0			1	216	-	A	A			Silent	55						
CYP4A11	0	broad.mit.edu	GRCh37	1	47402416	47402416	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0740-01	TCGA-14-0740-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310638.4:c.430C>T	p.Arg144Trp	p.R144W	ENST00000310638	NM_000778.3	144	Cgg/Tgg	0	T:0		1			A	R/W	uc001cqp.3	protein_coding	YES	CCDS543.1			430/1560									ovary(2)|skin(2)	4	c.(430-432)CGG>TGG			Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF67,Superfamily_domains:SSF48264	cytochrome P450, family 4, subfamily A,	NADH(DB00157)		T:0.0003	ENSP00000311095		12-Apr	9.06E-05	0.000481				6.01E-05		6.21E-05	rs202214253,COSM3400854	12-Apr	common_variant		ENST00000310638	Transcript			long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	ENSG00000187048	g.chr1:47402416G>A	2642			MODERATE		2.855	medium	getma.org/?cm=msa&ty=f&p=CP4AB_HUMAN&rb=51&re=505&var=R144W	getma.org/pdb.php?prot=CP4AB_HUMAN&from=51&to=505&var=R144W	getma.org/?cm=var&var=hg19,1,47402416,G,A&fts=all	R144W	--	--	1																																		CYP4A11_uc001cqq.2_Missense_Mutation_p.R144W|CYP4A11_uc010omm.1_RNA	0,1	1		benign(0.373)	p.R144W	NM_000778	NP_000769		deleterious(0.02)	0,1	CP4AB_HUMAN	CYP4A11	HGNC	Q02928	CP4AB_HUMAN					4	481	-			UPI00001281E4	144					SNV	CYP4A11,missense_variant,p.Arg144Trp,ENST00000310638,NM_000778.3;CYP4A11,missense_variant,p.Arg144Trp,ENST00000462347,;CYP4A11,missense_variant,p.Arg144Trp,ENST00000371904,;CYP4A11,missense_variant,p.Arg144Trp,ENST00000371905,;CYP4A11,missense_variant,p.Arg40Trp,ENST00000457840,;CYP4A11,upstream_gene_variant,,ENST00000496519,;CYP4A11,missense_variant,p.Arg144Trp,ENST00000475477,;CYP4A11,missense_variant,p.Arg144Trp,ENST00000465874,;CYP4A11,missense_variant,p.Arg144Trp,ENST00000468629,;CYP4A11,missense_variant,p.Arg144Trp,ENST00000474458,;	uc001cqp.3	c.430C>T	462/2530	2	2			c.430C>T						1	SNP	c.(430-432)CGG>TGG	30	30			ovary(2)|skin(2)	4	Broad	cytochrome P450, family 4, subfamily A,		NADH(DB00157)	47402416		0.443	ENSG00000187048	4110	g.chr1:47402416G>A	long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding							41.42557	KEEP	6	17	-1	31	31	6	17	-1	46.226867	31	31	0.236842	1	0	0	0	0	1	0	0	0	--	--		0	A			CYP4A11_uc001cqq.2_Missense_Mutation_p.R144W|CYP4A11_uc010omm.1_RNA	132	GBM-14-0740-TP	p.R144W	G	GTCAGCATCCGTCGATGCTGG	NM_000778	NP_000769	47402416	Q02928	CP4AB_HUMAN	0			4	481	-	A	A			Missense_Mutation	144						
CYP4A22	0	broad.mit.edu	GRCh37	1	47606460	47606460	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371891.3:c.204C>T	p.His68=	p.H68=	ENST00000371891	NM_001010969.2	68	caC/caT	0	T:0.0005		1			T	H	uc001cqv.1	protein_coding	YES	CCDS30707.1			204/1560									skin(2)|ovary(1)|breast(1)	4	c.(202-204)CAC>CAT			hmmpanther:PTHR24290:SF67,hmmpanther:PTHR24290,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	cytochrome P450, family 4, subfamily A,			T:0	ENSP00000360958		12-Feb	8.24E-05	0.000288		0.000116		9.00E-05			rs370585374,COSM3400857	12-Feb	.		ENST00000371891	Transcript				endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	ENSG00000162365	g.chr1:47606460C>T	20575			LOW								--	--	1																																		CYP4A22_uc009vyo.2_Silent_p.H68H|CYP4A22_uc009vyp.2_Silent_p.H68H	0,1	1			p.H68H	NM_001010969	NP_001010969			0,1	CP4AM_HUMAN	CYP4A22	HGNC	Q5TCH4	CP4AM_HUMAN					2	255	+			UPI00002371F0	68					SNV	CYP4A22,synonymous_variant,p.=,ENST00000371891,NM_001010969.2;CYP4A22,synonymous_variant,p.=,ENST00000371890,;CYP4A22,synonymous_variant,p.=,ENST00000294337,;CYP4A22-AS1,intron_variant,,ENST00000444042,;CYP4A22,non_coding_transcript_exon_variant,,ENST00000485117,;CYP4A22,non_coding_transcript_exon_variant,,ENST00000490948,;	uc001cqv.1	c.204C>T	235/2535	2	2			c.204C>T						1	SNP	c.(202-204)CAC>CAT	30	30			skin(2)|ovary(1)|breast(1)	4	Broad	cytochrome P450, family 4, subfamily A,			47606460		0.498	ENSG00000162365	4111	g.chr1:47606460C>T		endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	Pancreas(88;1240 1470 2099 14214 37557)			Pancreas(88;1240 1470 2099 14214 37557)			69.670826	KEEP	17	14	-1	54	72	17	14	-1	79.83798	54	72	0.217391	1	0	0	0	0	0	0	1	0	--	--		0	T			CYP4A22_uc009vyo.2_Silent_p.H68H|CYP4A22_uc009vyp.2_Silent_p.H68H	207	GBM-28-1753-TP	p.H68H	C	AGTTCCAACACGACCAGGAGC	NM_001010969	NP_001010969	47606460	Q5TCH4	CP4AM_HUMAN	0			2	255	+	T	T			Silent	68						
CYP4B1	1580	broad.mit.edu	GRCh37	1	47279693	47279693	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0184-01	TCGA-06-0184-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371923.4:c.733C>T	p.Arg245Cys	p.R245C	ENST00000371923	NM_001099772.1	245	Cgc/Tgc	0			1			T	R/C	uc001cqm.3	protein_coding		CCDS542.1			730/1536									ovary(1)|skin(1)	2	c.(730-732)CGC>TGC			hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF43,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	cytochrome P450, family 4, subfamily B,				ENSP00000271153		12-Jun	0.000206		8.64E-05			7.50E-05	0.0011	0.00109	rs758555438,COSM2150474	12-Jun	common_variant		ENST00000271153	Transcript			xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	ENSG00000142973	g.chr1:47279693C>T	2644			MODERATE		3.255	medium	getma.org/?cm=msa&ty=f&p=CP4B1_HUMAN&rb=46&re=501&var=R244C	getma.org/pdb.php?prot=CP4B1_HUMAN&from=46&to=501&var=R244C	getma.org/?cm=var&var=hg19,1,47279693,C,T&fts=all	R244C	--	--	1																																		CYP4B1_uc009vyl.1_Missense_Mutation_p.R81C|CYP4B1_uc001cqn.3_Missense_Mutation_p.R245C|CYP4B1_uc009vym.2_Missense_Mutation_p.R230C|CYP4B1_uc010omk.1_Missense_Mutation_p.R81C|CYP4B1_uc010oml.1_Missense_Mutation_p.R82C	0,1			benign(0.056)	p.R244C	NM_000779	NP_000770		deleterious(0.04)	0,1	CP4B1_HUMAN	CYP4B1	HGNC	P13584	CP4B1_HUMAN			F5H6F1_HUMAN,B4DV41_HUMAN		6	814	+	Acute lymphoblastic leukemia(166;0.155)		UPI000013D8C5	244					SNV	CYP4B1,missense_variant,p.Arg244Cys,ENST00000271153,;CYP4B1,missense_variant,p.Arg245Cys,ENST00000371923,NM_001099772.1,NM_000779.3;CYP4B1,missense_variant,p.Arg230Cys,ENST00000371919,;CYP4B1,missense_variant,p.Arg82Cys,ENST00000452782,;CYP4B1,missense_variant,p.Arg81Cys,ENST00000468637,;CYP4B1,downstream_gene_variant,,ENST00000526297,;CYP4B1,downstream_gene_variant,,ENST00000546128,;CYP4B1,upstream_gene_variant,,ENST00000497005,;CYP4B1,synonymous_variant,p.=,ENST00000464439,;CYP4B1,3_prime_UTR_variant,,ENST00000529715,;CYP4B1,3_prime_UTR_variant,,ENST00000534708,;CYP4B1,upstream_gene_variant,,ENST00000481248,;	uc001cqm.3	c.730C>T	766/2171	2	2			c.730C>T						1	SNP	c.(730-732)CGC>TGC	30	30			ovary(1)|skin(1)	2	Broad	cytochrome P450, family 4, subfamily B,			47279693		0.592	ENSG00000142973	4112	g.chr1:47279693C>T	xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding							115.875108	KEEP	45	45	-1	132	147	45	45	-1	133.94837	132	147	0.2103	1	0	0	0	0	1	0	0	0	--	--		0	T			CYP4B1_uc009vyl.1_Missense_Mutation_p.R81C|CYP4B1_uc001cqn.3_Missense_Mutation_p.R245C|CYP4B1_uc009vym.2_Missense_Mutation_p.R230C|CYP4B1_uc010omk.1_Missense_Mutation_p.R81C|CYP4B1_uc010oml.1_Missense_Mutation_p.R82C	39	GBM-06-0184-TP	p.R244C	C	CCCACATGGCCGCCGCTTCCT	NM_000779	NP_000770	47279693	P13584	CP4B1_HUMAN	0			6	814	+	T	T	Acute lymphoblastic leukemia(166;0.155)		Missense_Mutation	244						
CYP4B1	1580		GRCh37	1	47282802	47282802	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000371923.4:c.1156C>T	p.Arg386Cys	p.R386C	ENST00000371923	NM_001099772.1	386	Cgc/Tgc	0																																																																																																																																																																																																																																												
CYP4F11	57834	broad.mit.edu	GRCh37	19	16024697	16024697	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0171-01	TCGA-06-0171-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000402119.4:c.1420G>A	p.Ala474Thr	p.A474T	ENST00000402119	NM_021187.3	474	Gcc/Acc	0		T:0	1	T:0		T	A/T	uc002nbu.2	protein_coding		CCDS12337.1			1420/1575									ovary(1)	1	c.(1420-1422)GCC>ACC			hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF61,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264,Prints_domain:PR00463,Prints_domain:PR00385	cytochrome P450 family 4 subfamily F polypeptide		T:0.002		ENSP00000248041	T:0	13/13	1.65E-05			0.000117				6.58E-05	rs201156268,COSM1742495	13/13	.		ENST00000248041	Transcript		T:0.0006	inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	ENSG00000171903	g.chr19:16024697C>T	13265			MODERATE		3.98	high	getma.org/?cm=msa&ty=f&p=CP4FB_HUMAN&rb=52&re=515&var=A474T	getma.org/pdb.php?prot=CP4FB_HUMAN&from=52&to=515&var=A474T	getma.org/?cm=var&var=hg19,19,16024697,C,T&fts=all	A474T	--	--	1																																		CYP4F11_uc010eab.1_Missense_Mutation_p.R452H|CYP4F11_uc002nbt.2_Missense_Mutation_p.A474T	0,1			probably_damaging(0.989)	p.A474T	NM_001128932	NP_001122404	T:0.001	deleterious(0)	0,1	CP4FB_HUMAN	CYP4F11	HGNC	Q9HBI6	CP4FB_HUMAN					13	1456	-			UPI000013CC35	474					SNV	CYP4F11,missense_variant,p.Ala474Thr,ENST00000402119,NM_021187.3;CYP4F11,missense_variant,p.Ala474Thr,ENST00000248041,NM_001128932.1;CYP4F11,missense_variant,p.Arg452His,ENST00000326742,;CYP4F11,missense_variant,p.Ala149Thr,ENST00000591841,;AC005336.4,upstream_gene_variant,,ENST00000585431,;	uc002nbu.2	c.1420G>A	1457/2977	2	2			c.1420G>A						19	SNP	c.(1420-1422)GCC>ACC	24	24			ovary(1)	1	Broad	cytochrome P450 family 4 subfamily F polypeptide			16024697		0.617	ENSG00000171903	4113	g.chr19:16024697C>T	inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding							7.121654	KEEP	3	5	-1	35	22	3	5	-1	14.199007	35	22	0.12	1	0	0	0	0	1	0	0	0	--	--		0	T			CYP4F11_uc010eab.1_Missense_Mutation_p.R452H|CYP4F11_uc002nbt.2_Missense_Mutation_p.A474T	35	GBM-06-0171-TP	p.A474T	C	TCAGCCATGGCGAACGCCTGC	NM_001128932	NP_001122404	16024697	Q9HBI6	CP4FB_HUMAN	0			13	1456	-	T	T			Missense_Mutation	474						
CYP4F11	57834	broad.mit.edu	GRCh37	19	16034748	16034748	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5410-01	TCGA-06-5410-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000402119.4:c.792C>T	p.His264=	p.H264=	ENST00000402119	NM_021187.3	264	caC/caT	0			1			A	H	uc002nbu.2	protein_coding		CCDS12337.1			792/1575									ovary(1)	1	c.(790-792)CAC>CAT			hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF61,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264	cytochrome P450 family 4 subfamily F polypeptide				ENSP00000248041		13-Jul	2.47E-05					1.50E-05		0.000121	rs778958992,COSM3284303	13-Jul	.		ENST00000248041	Transcript			inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	ENSG00000171903	g.chr19:16034748G>A	13265			LOW								--	--	1																																		CYP4F11_uc010eab.1_Silent_p.H264H|CYP4F11_uc002nbt.2_Silent_p.H264H	0,1				p.H264H	NM_001128932	NP_001122404			0,1	CP4FB_HUMAN	CYP4F11	HGNC	Q9HBI6	CP4FB_HUMAN					7	828	-			UPI000013CC35	264					SNV	CYP4F11,synonymous_variant,p.=,ENST00000402119,NM_021187.3;CYP4F11,synonymous_variant,p.=,ENST00000248041,NM_001128932.1;CYP4F11,synonymous_variant,p.=,ENST00000326742,;CYP4F11,5_prime_UTR_variant,,ENST00000591841,;	uc002nbu.2	c.792C>T	829/2977	2	2			c.792C>T						19	SNP	c.(790-792)CAC>CAT	21	21			ovary(1)	1	Broad	cytochrome P450 family 4 subfamily F polypeptide			16034748		0.527	ENSG00000171903	4113	g.chr19:16034748G>A	inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding							-9.167624	KEEP	5	5	-1	83	80	5	5	-1	21.649433	83	80	0.064103	1	0	0	0	0	0	0	1	0	--	--		0	A			CYP4F11_uc010eab.1_Silent_p.H264H|CYP4F11_uc002nbt.2_Silent_p.H264H	93	GBM-06-5410-TP	p.H264H	G	CTGTGAAGTCGTGCACCAGGT	NM_001128932	NP_001122404	16034748	Q9HBI6	CP4FB_HUMAN	0			7	828	-	A	A			Silent	264						
CYP4F11	0	broad.mit.edu	GRCh37	19	16025181	16025181	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2615-01	TCGA-32-2615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000248041.8:c.1331G>A	p.Arg444His	p.R444H	ENST00000248041	NM_001128932.1	444	cGt/cAt	0	T:0.0002		1			T	R/H	uc002nbu.2	protein_coding		CCDS12337.1			1331/1575									ovary(1)	1	c.(1330-1332)CGT>CAT			hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF61,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264,Prints_domain:PR00463	cytochrome P450 family 4 subfamily F polypeptide			T:0	ENSP00000248041		13-Dec	7.41E-05	9.62E-05	8.64E-05	0.000116		9.01E-05			rs200410691,COSM3403889	13-Dec	.		ENST00000248041	Transcript			inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	ENSG00000171903	g.chr19:16025181C>T	13265			MODERATE		3.12	medium	getma.org/?cm=msa&ty=f&p=CP4FB_HUMAN&rb=52&re=515&var=R444H	getma.org/pdb.php?prot=CP4FB_HUMAN&from=52&to=515&var=R444H	getma.org/?cm=var&var=hg19,19,16025181,C,T&fts=all	R444H	--	--	1																																		CYP4F11_uc010eab.1_Silent_p.P422P|CYP4F11_uc002nbt.2_Missense_Mutation_p.R444H	0,1			possibly_damaging(0.874)	p.R444H	NM_001128932	NP_001122404		deleterious(0)	0,1	CP4FB_HUMAN	CYP4F11	HGNC	Q9HBI6	CP4FB_HUMAN					12	1367	-			UPI000013CC35	444					SNV	CYP4F11,missense_variant,p.Arg444His,ENST00000402119,NM_021187.3;CYP4F11,missense_variant,p.Arg444His,ENST00000248041,NM_001128932.1;CYP4F11,missense_variant,p.Arg119His,ENST00000591841,;CYP4F11,synonymous_variant,p.=,ENST00000326742,;AC005336.4,upstream_gene_variant,,ENST00000585431,;	uc002nbu.2	c.1331G>A	1368/2977	2	2			c.1331G>A						19	SNP	c.(1330-1332)CGT>CAT	44	44			ovary(1)	1	Broad	cytochrome P450 family 4 subfamily F polypeptide			16025181		0.587	ENSG00000171903	4113	g.chr19:16025181C>T	inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding							324.889072	KEEP	51	59	-1	55	73	51	59	-1	325.167201	55	73	0.462222	1	0	0	0	0	1	0	0	0	--	--		0	T			CYP4F11_uc010eab.1_Silent_p.P422P|CYP4F11_uc002nbt.2_Missense_Mutation_p.R444H	239	GBM-32-2615-TP	p.R444H	C	TTGGTCGAAACGGAAGGGGTC	NM_001128932	NP_001122404	16025181	Q9HBI6	CP4FB_HUMAN	0			12	1367	-	T	T			Missense_Mutation	444						
CYP4F11	57834		GRCh37	19	16025652	16025652	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000402119.4:c.1169G>A	p.Arg390Gln	p.R390Q	ENST00000402119	NM_021187.3	390	cGg/cAg	0																																																																																																																																																																																																																																												
CYP4F12	66002	broad.mit.edu	GRCh37	19	15791225	15791225	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01	TCGA-06-5408-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000550308.1:c.421G>A	p.Gly141Ser	p.G141S	ENST00000550308	NM_023944.3	141	Ggt/Agt	0		A:0	1	A:0		A	G/S	uc002nbl.2	protein_coding	YES	CCDS42517.1			421/1575									skin(3)|ovary(2)|central_nervous_system(2)	7	c.(421-423)GGT>AGT			Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF72,Superfamily_domains:SSF48264	cytochrome P450, family 4, subfamily F,		A:0.001		ENSP00000448998	A:0	13-May	4.95E-05			0.000232		1.53E-05		0.000182	rs375976293,COSM3403880	13-May	.		ENST00000550308	Transcript		A:0.0002				ENSG00000186204	g.chr19:15791225G>A	18857			MODERATE		3.55	high	getma.org/?cm=msa&ty=f&p=CP4FC_HUMAN&rb=52&re=515&var=G141S	getma.org/pdb.php?prot=CP4FC_HUMAN&from=52&to=515&var=G141S	getma.org/?cm=var&var=hg19,19,15791225,G,A&fts=all	G141S	--	--	1																																		CYP4F12_uc010xoo.1_Missense_Mutation_p.G141S|CYP4F12_uc010xop.1_Missense_Mutation_p.R172Q	0,1	1		probably_damaging(0.943)	p.G141S	NM_023944	NP_076433	A:0	deleterious(0)	0,1	CP4FC_HUMAN	CYP4F12	HGNC							5	482	+	Acute lymphoblastic leukemia(2;0.0367)		UPI000013D3F9						SNV	CYP4F12,missense_variant,p.Gly141Ser,ENST00000550308,NM_023944.3;CYP4F12,missense_variant,p.Gly141Ser,ENST00000324632,;CYP4F12,downstream_gene_variant,,ENST00000551607,;CYP4F12,missense_variant,p.Arg104Gln,ENST00000547332,;CYP4F12,3_prime_UTR_variant,,ENST00000517734,;CYP4F12,3_prime_UTR_variant,,ENST00000548237,;CYP4F12,3_prime_UTR_variant,,ENST00000548435,;CYP4F12,non_coding_transcript_exon_variant,,ENST00000518629,;CYP4F12,non_coding_transcript_exon_variant,,ENST00000430608,;CYP4F12,non_coding_transcript_exon_variant,,ENST00000451750,;CYP4F12,non_coding_transcript_exon_variant,,ENST00000546792,;CYP4F12,non_coding_transcript_exon_variant,,ENST00000548501,;CYP4F12,non_coding_transcript_exon_variant,,ENST00000547471,;CYP4F12,non_coding_transcript_exon_variant,,ENST00000549622,;CYP4F12,upstream_gene_variant,,ENST00000546608,;CYP4F12,upstream_gene_variant,,ENST00000550627,;CYP4F12,downstream_gene_variant,,ENST00000550264,;	uc002nbl.2	c.421G>A	801/2044	2	2			c.421G>A						19	SNP	c.(421-423)GGT>AGT	41	41			skin(3)|ovary(2)|central_nervous_system(2)	7	Broad	cytochrome P450, family 4, subfamily F,			15791225		0.552	ENSG00000186204	4114	g.chr19:15791225G>A										53.571532	KEEP	7	12	-1	17	18	7	12	-1	54.419198	17	18	0.36	1	0	0	0	0	1	0	0	0	--	--		0	A			CYP4F12_uc010xoo.1_Missense_Mutation_p.G141S|CYP4F12_uc010xop.1_Missense_Mutation_p.R172Q	92	GBM-06-5408-TP	p.G141S	G	GCTGAGTGGCGGTGACAAGTG	NM_023944	NP_076433	15791225			0			5	482	+	A	A	Acute lymphoblastic leukemia(2;0.0367)		Missense_Mutation							
CYP4F12	0	broad.mit.edu	GRCh37	19	15795890	15795890	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0688-01	TCGA-12-0688-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000550308.1:c.998C>T	p.Thr333Met	p.T333M	ENST00000550308	NM_023944.3	333	aCg/aTg	0	T:0.0016		1			T	T/M	uc002nbl.2	protein_coding	YES	CCDS42517.1			998/1575									skin(3)|ovary(2)|central_nervous_system(2)	7	c.(997-999)ACG>ATG			Gene3D:1.10.630.10,Pfam_domain:PF00067,Prints_domain:PR00385,Prints_domain:PR00463,hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF72,Superfamily_domains:SSF48264	cytochrome P450, family 4, subfamily F,			T:0	ENSP00000448998		13-Sep	0.000124	0.00108	0.000173			3.01E-05			rs199760551,COSM2153952	13-Sep	common_variant		ENST00000550308	Transcript						ENSG00000186204	g.chr19:15795890C>T	18857			MODERATE		3.74	high	getma.org/?cm=msa&ty=f&p=CP4FC_HUMAN&rb=52&re=515&var=T333M	getma.org/pdb.php?prot=CP4FC_HUMAN&from=52&to=515&var=T333M	getma.org/?cm=var&var=hg19,19,15795890,C,T&fts=all	T333M	--	--	1																																			0,1	1		probably_damaging(0.995)	p.T333M	NM_023944	NP_076433		deleterious(0)	0,1	CP4FC_HUMAN	CYP4F12	HGNC							9	1059	+	Acute lymphoblastic leukemia(2;0.0367)		UPI000013D3F9						SNV	CYP4F12,missense_variant,p.Thr333Met,ENST00000550308,NM_023944.3;CYP4F12,missense_variant,p.Thr333Met,ENST00000324632,;CYP4F12,downstream_gene_variant,,ENST00000551607,;CYP4F12,3_prime_UTR_variant,,ENST00000517734,;CYP4F12,non_coding_transcript_exon_variant,,ENST00000546608,;CYP4F12,non_coding_transcript_exon_variant,,ENST00000550627,;CYP4F12,non_coding_transcript_exon_variant,,ENST00000518629,;CYP4F12,downstream_gene_variant,,ENST00000430608,;CYP4F12,downstream_gene_variant,,ENST00000451750,;CYP4F12,downstream_gene_variant,,ENST00000546792,;CYP4F12,downstream_gene_variant,,ENST00000548237,;CYP4F12,downstream_gene_variant,,ENST00000548501,;CYP4F12,downstream_gene_variant,,ENST00000547332,;CYP4F12,downstream_gene_variant,,ENST00000547471,;CYP4F12,downstream_gene_variant,,ENST00000549622,;CYP4F12,downstream_gene_variant,,ENST00000548435,;	uc002nbl.2	c.998C>T	1378/2044	2	2			c.998C>T						19	SNP	c.(997-999)ACG>ATG	17	17			skin(3)|ovary(2)|central_nervous_system(2)	7	Broad	cytochrome P450, family 4, subfamily F,			15795890		0.627	ENSG00000186204	4114	g.chr19:15795890C>T										23.261657	KEEP	13	13	-1	37	36	13	13	-1	28.087455	37	36	0.20339	1	0	0	0	0	1	0	0	0	--	--		0	T				121	GBM-12-0688-TP	p.T333M	C	CATGACACCACGGCCAGTGGC	NM_023944	NP_076433	15795890			0			9	1059	+	T	T	Acute lymphoblastic leukemia(2;0.0367)		Missense_Mutation							
CYP4F12	0	broad.mit.edu	GRCh37	19	15807863	15807863	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01	TCGA-19-2629-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000550308.1:c.1543C>T	p.Arg515Trp	p.R515W	ENST00000550308	NM_023944.3	515	Cgg/Tgg	0			1			T	R/W	uc002nbl.2	protein_coding	YES	CCDS42517.1			1543/1575									skin(3)|ovary(2)|central_nervous_system(2)	7	c.(1543-1545)CGG>TGG			Gene3D:1.10.630.10,hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF72,Superfamily_domains:SSF48264	cytochrome P450, family 4, subfamily F,				ENSP00000448998		13/13									COSM1249610	13/13	.		ENST00000550308	Transcript						ENSG00000186204	g.chr19:15807863C>T	18857			MODERATE		2.97	medium	getma.org/?cm=msa&ty=f&p=CP4FC_HUMAN&rb=52&re=515&var=R515W	NA	getma.org/?cm=var&var=hg19,19,15807863,C,T&fts=all	R515W	--	--	1																																			1	1		benign(0.056)	p.R515W	NM_023944	NP_076433		tolerated(0.06)	1	CP4FC_HUMAN	CYP4F12	HGNC							13	1604	+	Acute lymphoblastic leukemia(2;0.0367)		UPI000013D3F9						SNV	CYP4F12,missense_variant,p.Arg515Trp,ENST00000550308,NM_023944.3;CYP4F12,missense_variant,p.Arg515Trp,ENST00000324632,;CYP4F12,3_prime_UTR_variant,,ENST00000517734,;CYP4F12,non_coding_transcript_exon_variant,,ENST00000546608,;CYP4F12,non_coding_transcript_exon_variant,,ENST00000550627,;CYP4F12,non_coding_transcript_exon_variant,,ENST00000518629,;	uc002nbl.2	c.1543C>T	1923/2044	2	2			c.1543C>T						19	SNP	c.(1543-1545)CGG>TGG	30	30			skin(3)|ovary(2)|central_nervous_system(2)	7	Broad	cytochrome P450, family 4, subfamily F,			15807863		0.567	ENSG00000186204	4114	g.chr19:15807863C>T										61.357572	KEEP	18	17	-1	65	70	18	17	-1	72.730009	65	70	0.208333	1	0	0	0	0	1	0	0	0	--	--		0	T				166	GBM-19-2629-TP	p.R515W	C	GCTTTGGCTGCGGGTGGAGCC	NM_023944	NP_076433	15807863			0			13	1604	+	T	T	Acute lymphoblastic leukemia(2;0.0367)		Missense_Mutation							
CYP4F2	8529	broad.mit.edu	GRCh37	19	15989728	15989728	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0192-01	TCGA-06-0192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221700.6:c.1416G>A	p.Thr472=	p.T472=	ENST00000221700	NM_001082.3	472	acG/acA	0			1			T	T	uc002nbs.1	protein_coding	YES	CCDS12336.1			1416/1563									ovary(1)|skin(1)	2	c.(1414-1416)ACG>ACA			Gene3D:1.10.630.10,Pfam_domain:PF00067,Prints_domain:PR00385,Prints_domain:PR00463,hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF45,Superfamily_domains:SSF48264	cytochrome P450, family 4, subfamily F,				ENSP00000221700		13/13	8.24E-06					1.51E-05			rs751462720,COSM3403887	13/13	.		ENST00000221700	Transcript	1		leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	ENSG00000186115	g.chr19:15989728C>T	2645			LOW								--	--	1																																		CYP4F2_uc010xot.1_Silent_p.T323T	0,1	1			p.T472T	NM_001082	NP_001073			0,1	CP4F2_HUMAN	CYP4F2	HGNC	P78329	CP4F2_HUMAN			K7EK90_HUMAN		13	1466	-			UPI0000052BE6	472					SNV	CYP4F2,missense_variant,p.Arg69His,ENST00000589654,;CYP4F2,synonymous_variant,p.=,ENST00000221700,NM_001082.3;CYP4F2,non_coding_transcript_exon_variant,,ENST00000392846,;CYP4F2,downstream_gene_variant,,ENST00000587671,;CYP4F2,downstream_gene_variant,,ENST00000592710,;	uc002nbs.1	c.1416G>A	1512/2407	2	2			c.1416G>A						19	SNP	c.(1414-1416)ACG>ACA	22	22			ovary(1)|skin(1)	2	Broad	cytochrome P450, family 4, subfamily F,			15989728		0.672	ENSG00000186115	4115	g.chr19:15989728C>T	leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding							-15.787731	KEEP	2	8	-1	87	68	2	8	-1	14.833874	87	68	0.049296	1	0	0	0	0	0	0	1	0	--	--		0	T			CYP4F2_uc010xot.1_Silent_p.T323T	44	GBM-06-0192-TP	p.T472T	C	CCATCGCGAACGTCTGCCCGA	NM_001082	NP_001073	15989728	P78329	CP4F2_HUMAN	0			13	1466	-	T	T			Silent	472						
CYP4F2	8529	broad.mit.edu	GRCh37	19	15990424	15990424	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0749-01	TCGA-06-0749-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221700.6:c.1304C>T	p.Pro435Leu	p.P435L	ENST00000221700	NM_001082.3	435	cCg/cTg	0		A:0	1	A:0		A	P/L	uc002nbs.1	protein_coding	YES	CCDS12336.1			1304/1563									ovary(1)|skin(1)	2	c.(1303-1305)CCG>CTG			Gene3D:1.10.630.10,Pfam_domain:PF00067,Prints_domain:PR00463,hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF45,Superfamily_domains:SSF48264	cytochrome P450, family 4, subfamily F,		A:0		ENSP00000221700	A:0	13-Nov	3.29E-05							0.000243	rs550261161,COSM3403888	13-Nov	.		ENST00000221700	Transcript	1	A:0.0002	leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	ENSG00000186115	g.chr19:15990424G>A	2645			MODERATE		3.045	medium	getma.org/?cm=msa&ty=f&p=CP4F2_HUMAN&rb=52&re=515&var=P435L	getma.org/pdb.php?prot=CP4F2_HUMAN&from=52&to=515&var=P435L	getma.org/?cm=var&var=hg19,19,15990424,G,A&fts=all	P435L	--	--	1																																		CYP4F2_uc010xot.1_Missense_Mutation_p.P286L	0,1	1		benign(0.224)	p.P435L	NM_001082	NP_001073	A:0.001	deleterious(0.03)	0,1	CP4F2_HUMAN	CYP4F2	HGNC	P78329	CP4F2_HUMAN			K7EK90_HUMAN		11	1354	-			UPI0000052BE6	435					SNV	CYP4F2,missense_variant,p.Pro435Leu,ENST00000221700,NM_001082.3;CYP4F2,intron_variant,,ENST00000589654,;CYP4F2,non_coding_transcript_exon_variant,,ENST00000392846,;CYP4F2,downstream_gene_variant,,ENST00000587671,;CYP4F2,downstream_gene_variant,,ENST00000592710,;	uc002nbs.1	c.1304C>T	1400/2407	1	1			c.1304C>T						19	SNP	c.(1303-1305)CCG>CTG	57	57			ovary(1)|skin(1)	2	Broad	cytochrome P450, family 4, subfamily F,			15990424		0.567	ENSG00000186115	4115	g.chr19:15990424G>A	leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding							74.644902	KEEP	17	29	-1	100	109	17	29	-1	98.688942	100	109	0.164444	1	0	0	0	0	1	0	0	0	--	--		0	A			CYP4F2_uc010xot.1_Missense_Mutation_p.P286L	69	GBM-06-0749-TP	p.P435L	G	CTCAGGGTCCGGCCACACAGC	NM_001082	NP_001073	15990424	P78329	CP4F2_HUMAN	0			11	1354	-	A	A			Missense_Mutation	435						
CYP4F22	0	broad.mit.edu	GRCh37	19	15648390	15648390	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269703.3:c.466C>T	p.Arg156Cys	p.R156C	ENST00000269703	NM_173483.3	156	Cgt/Tgt	0			1			T	R/C	uc002nbh.3	protein_coding	YES	CCDS12331.1			466/1596									ovary(1)|pancreas(1)	2	c.(466-468)CGT>TGT			hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF68,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	cytochrome P450, family 4, subfamily F,				ENSP00000269703		14-Jun	4.94E-05	9.66E-05			0.000151	4.51E-05		6.06E-05	rs770500550,COSM3283839	14-Jun	.		ENST00000269703	Transcript	1			endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	ENSG00000171954	g.chr19:15648390C>T	26820			MODERATE		3.775	high	getma.org/?cm=msa&ty=f&p=CP4FN_HUMAN&rb=60&re=524&var=R156C	getma.org/pdb.php?prot=CP4FN_HUMAN&from=60&to=524&var=R156C	getma.org/?cm=var&var=hg19,19,15648390,C,T&fts=all	R156C	--	--	1																																			0,1	1		probably_damaging(0.999)	p.R156C	NM_173483	NP_775754		deleterious(0)	0,1	CP4FN_HUMAN	CYP4F22	HGNC	Q6NT55	CP4FN_HUMAN					6	633	+			UPI000013D84B	156					SNV	CYP4F22,missense_variant,p.Arg156Cys,ENST00000269703,NM_173483.3;CYP4F22,missense_variant,p.Arg156Cys,ENST00000601005,;	uc002nbh.3	c.466C>T	665/2641	2	2			c.466C>T						19	SNP	c.(466-468)CGT>TGT	29	29			ovary(1)|pancreas(1)	2	Broad	cytochrome P450, family 4, subfamily F,			15648390		0.542	ENSG00000171954	4116	g.chr19:15648390C>T		endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen							12.705528	KEEP	7	5	-1	40	38	7	5	-1	24.417485	40	38	0.120482	1	0	0	0	0	1	0	0	0	--	--		0	T				230	GBM-32-1979-TP	p.R156C	C	GAGCCGGCACCGTCGCCTGCT	NM_173483	NP_775754	15648390	Q6NT55	CP4FN_HUMAN	0			6	633	+	T	T			Missense_Mutation	156						
CYP4F22	0	broad.mit.edu	GRCh37	19	15651449	15651449	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs146265982		TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269703.3:c.860G>A	p.Arg287His	p.R287H	ENST00000269703	NM_173483.3	287	cGt/cAt	0	C:0.0002		1			A	R/H	uc002nbh.3	protein_coding	YES	CCDS12331.1			860/1596									ovary(1)|pancreas(1)	2	c.(859-861)CGT>CAT			hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF68,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	cytochrome P450, family 4, subfamily F,			C:0	ENSP00000269703		14-Aug	1.65E-05				0.000152	1.52E-05			rs146265982,COSM3403864	14-Aug	.		ENST00000269703	Transcript	1			endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	ENSG00000171954	g.chr19:15651449G>A	26820			MODERATE		0.44	neutral	getma.org/?cm=msa&ty=f&p=CP4FN_HUMAN&rb=60&re=524&var=R287H	getma.org/pdb.php?prot=CP4FN_HUMAN&from=60&to=524&var=R287H	getma.org/?cm=var&var=hg19,19,15651449,G,A&fts=all	R287H	--	--	1																																			0,1	1		benign(0.001)	p.R287H	NM_173483	NP_775754		tolerated(0.15)	0,1	CP4FN_HUMAN	CYP4F22	HGNC	Q6NT55	CP4FN_HUMAN					8	1027	+			UPI000013D84B	287					SNV	CYP4F22,missense_variant,p.Arg287His,ENST00000269703,NM_173483.3;CYP4F22,missense_variant,p.Arg287His,ENST00000601005,;	uc002nbh.3	c.860G>A	1059/2641	1	1			c.860G>A						19	SNP	c.(859-861)CGT>CAT	62	62			ovary(1)|pancreas(1)	2	Broad	cytochrome P450, family 4, subfamily F,			15651449		0.632	ENSG00000171954	4116	g.chr19:15651449G>A		endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen							112.292706	KEEP	23	25	-1	55	32	23	25	-1	114.571127	55	32	0.352941	1	0	0	0	0	1	0	0	0	--	--		0	A				240	GBM-32-2632-TP	p.R287H	G	CGGGCACTGCGTCAGCAGGGG	NM_173483	NP_775754	15651449	Q6NT55	CP4FN_HUMAN	0			8	1027	+	A	A			Missense_Mutation	287						
CYP4F3	4051	broad.mit.edu	GRCh37	19	15763403	15763403	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-01	TCGA-06-0190-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221307.8:c.943G>A	p.Asp315Asn	p.D315N	ENST00000221307	NM_000896.2	315	Gat/Aat	0			1			A	D/N	uc002nbj.2	protein_coding	YES	CCDS12332.1			943/1563									ovary(3)	3	c.(943-945)GAT>AAT			Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF46,Superfamily_domains:SSF48264	cytochrome P450, family 4, subfamily F,				ENSP00000221307		13-Aug	1.65E-05					3.00E-05			rs780899134,COSM3403875,COSM3403876	13-Aug	.		ENST00000221307	Transcript			leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	ENSG00000186529	g.chr19:15763403G>A	2646			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=CP4F3_HUMAN&rb=52&re=515&var=D315N	getma.org/pdb.php?prot=CP4F3_HUMAN&from=52&to=515&var=D315N	getma.org/?cm=var&var=hg19,19,15763403,G,A&fts=all	D315N	--	--	1																																		CYP4F3_uc010xok.1_Missense_Mutation_p.D315N|CYP4F3_uc010xol.1_Missense_Mutation_p.D315N|CYP4F3_uc010xom.1_Missense_Mutation_p.D166N|CYP4F3_uc002nbk.2_Missense_Mutation_p.D315N|CYP4F3_uc010xon.1_Missense_Mutation_p.D25N	0,1,1	1		possibly_damaging(0.458)	p.D315N	NM_000896	NP_000887		tolerated(0.05)	0,1,1	CP4F3_HUMAN	CYP4F3	HGNC	Q08477	CP4F3_HUMAN			B7Z5A8_HUMAN		8	993	+			UPI0000052BE3	315					SNV	CYP4F3,missense_variant,p.Asp315Asn,ENST00000221307,NM_000896.2;CYP4F3,missense_variant,p.Asp315Asn,ENST00000591058,NM_001199208.1;CYP4F3,missense_variant,p.Asp315Asn,ENST00000586182,NM_001199209.1;CYP4F3,missense_variant,p.Asp315Asn,ENST00000585846,;CYP4F3,3_prime_UTR_variant,,ENST00000592424,;CYP4F3,non_coding_transcript_exon_variant,,ENST00000592279,;CYP4F3,downstream_gene_variant,,ENST00000587360,;	uc002nbj.2	c.943G>A	990/5050	1	1			c.943G>A						19	SNP	c.(943-945)GAT>AAT	52	52			ovary(3)	3	Broad	cytochrome P450, family 4, subfamily F,			15763403		0.517	ENSG00000186529	4117	g.chr19:15763403G>A	leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding							192.640514	KEEP	43	41	-1	150	161	43	41	-1	217.77602	150	161	0.222535	1	0	0	0	0	1	0	0	0	--	--		0	A			CYP4F3_uc010xok.1_Missense_Mutation_p.D315N|CYP4F3_uc010xol.1_Missense_Mutation_p.D315N|CYP4F3_uc010xom.1_Missense_Mutation_p.D166N|CYP4F3_uc002nbk.2_Missense_Mutation_p.D315N|CYP4F3_uc010xon.1_Missense_Mutation_p.D25N	43	GBM-06-0190-TP	p.D315N	G	GAAGTTGTCCGATGAGGACAT	NM_000896	NP_000887	15763403	Q08477	CP4F3_HUMAN	0			8	993	+	A	A			Missense_Mutation	315						
CYP4F3	4051	broad.mit.edu	GRCh37	19	15758065	15758065	+	synonymous_variant	Silent	SNP	G	G	A	rs138865516		TCGA-06-0686-01	TCGA-06-0686-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221307.8:c.456G>A	p.Thr152=	p.T152=	ENST00000221307	NM_000896.2	152	acG/acA	0	A:0		1			A	T	uc002nbj.2	protein_coding	YES	CCDS12332.1			456/1563									ovary(3)	3	c.(454-456)ACG>ACA			Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF46,Superfamily_domains:SSF48264	cytochrome P450, family 4, subfamily F,			A:0.0001	ENSP00000221307		13-May	3.29E-05				0.000151	3.00E-05		6.06E-05	rs138865516,COSM2151589,COSM3403872	13-May	.		ENST00000221307	Transcript			leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	ENSG00000186529	g.chr19:15758065G>A	2646			LOW								--	--	1																																		CYP4F3_uc010xok.1_Silent_p.T152T|CYP4F3_uc010xol.1_Silent_p.T152T|CYP4F3_uc010xom.1_Silent_p.T3T|CYP4F3_uc002nbk.2_Silent_p.T152T|CYP4F3_uc010xon.1_5'Flank	0,1,1	1			p.T152T	NM_000896	NP_000887			0,1,1	CP4F3_HUMAN	CYP4F3	HGNC	Q08477	CP4F3_HUMAN			B7Z5A8_HUMAN		5	506	+			UPI0000052BE3	152					SNV	CYP4F3,synonymous_variant,p.=,ENST00000221307,NM_000896.2;CYP4F3,synonymous_variant,p.=,ENST00000591058,NM_001199208.1;CYP4F3,synonymous_variant,p.=,ENST00000586182,NM_001199209.1;CYP4F3,synonymous_variant,p.=,ENST00000585846,;CYP4F3,3_prime_UTR_variant,,ENST00000587360,;CYP4F3,non_coding_transcript_exon_variant,,ENST00000592279,;CYP4F3,non_coding_transcript_exon_variant,,ENST00000609670,;CYP4F3,upstream_gene_variant,,ENST00000592424,;	uc002nbj.2	c.456G>A	503/5050	2	2			c.456G>A						19	SNP	c.(454-456)ACG>ACA	18	18			ovary(3)	3	Broad	cytochrome P450, family 4, subfamily F,			15758065		0.552	ENSG00000186529	4117	g.chr19:15758065G>A	leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding							149.144786	KEEP	29	29	-1	30	34	29	29	-1	149.177975	30	34	0.480769	1	0	0	0	0	0	0	1	0	--	--		0	A			CYP4F3_uc010xok.1_Silent_p.T152T|CYP4F3_uc010xol.1_Silent_p.T152T|CYP4F3_uc010xom.1_Silent_p.T3T|CYP4F3_uc002nbk.2_Silent_p.T152T|CYP4F3_uc010xon.1_5'Flank	64	GBM-06-0686-TP	p.T152T	G	GGATGCTGACGCCTGCCTTCC	NM_000896	NP_000887	15758065	Q08477	CP4F3_HUMAN	0			5	506	+	A	A			Silent	152						
CYP4F3	0	broad.mit.edu	GRCh37	19	15760895	15760895	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs141338088	byFrequency	TCGA-14-2554-01	TCGA-14-2554-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221307.8:c.820C>T	p.Arg274Trp	p.R274W	ENST00000221307	NM_000896.2	274	Cgg/Tgg	0	T:0.0005	T:0	1	T:0		T	R/W	uc002nbj.2	protein_coding	YES	CCDS12332.1			820/1563									ovary(3)	3	c.(820-822)CGG>TGG			Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF46,Superfamily_domains:SSF48264	cytochrome P450, family 4, subfamily F,		T:0	T:0.0012	ENSP00000221307	T:0.001	13-Jul	0.000354	0.000192	0.000345	0.000116		0.000539			rs141338088,COSM3403873,COSM3403874	13-Jul	common_variant		ENST00000221307	Transcript		T:0.0002	leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	ENSG00000186529	g.chr19:15760895C>T	2646			MODERATE		3.7	high	getma.org/?cm=msa&ty=f&p=CP4F3_HUMAN&rb=52&re=515&var=R274W	getma.org/pdb.php?prot=CP4F3_HUMAN&from=52&to=515&var=R274W	getma.org/?cm=var&var=hg19,19,15760895,C,T&fts=all	R274W	--	--	1																																		CYP4F3_uc010xok.1_Missense_Mutation_p.R274W|CYP4F3_uc010xol.1_Missense_Mutation_p.R274W|CYP4F3_uc010xom.1_Missense_Mutation_p.R125W|CYP4F3_uc002nbk.2_Missense_Mutation_p.R274W|CYP4F3_uc010xon.1_5'UTR	0,1,1	1		possibly_damaging(0.825)	p.R274W	NM_000896	NP_000887	T:0	deleterious(0.01)	0,1,1	CP4F3_HUMAN	CYP4F3	HGNC	Q08477	CP4F3_HUMAN			B7Z5A8_HUMAN		7	870	+			UPI0000052BE3	274					SNV	CYP4F3,missense_variant,p.Arg274Trp,ENST00000221307,NM_000896.2;CYP4F3,missense_variant,p.Arg274Trp,ENST00000591058,NM_001199208.1;CYP4F3,missense_variant,p.Arg274Trp,ENST00000586182,NM_001199209.1;CYP4F3,missense_variant,p.Arg274Trp,ENST00000585846,;CYP4F3,missense_variant,p.Arg36Trp,ENST00000592424,;CYP4F3,non_coding_transcript_exon_variant,,ENST00000592279,;CYP4F3,downstream_gene_variant,,ENST00000587360,;CYP4F3,downstream_gene_variant,,ENST00000609670,;	uc002nbj.2	c.820C>T	867/5050	2	2			c.820C>T						19	SNP	c.(820-822)CGG>TGG	44	44			ovary(3)	3	Broad	cytochrome P450, family 4, subfamily F,			15760895		0.567	ENSG00000186529	4117	g.chr19:15760895C>T	leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding							169.0056	KEEP	29	46	-1	83	93	29	46	-1	177.084871	83	93	0.296804	1	0	0	0	0	1	0	0	0	--	--		0	T			CYP4F3_uc010xok.1_Missense_Mutation_p.R274W|CYP4F3_uc010xol.1_Missense_Mutation_p.R274W|CYP4F3_uc010xom.1_Missense_Mutation_p.R125W|CYP4F3_uc002nbk.2_Missense_Mutation_p.R274W|CYP4F3_uc010xon.1_5'UTR	150	GBM-14-2554-TP	p.R274W	C	CATCCAGGAGCGGCGCCGCAC	NM_000896	NP_000887	15760895	Q08477	CP4F3_HUMAN	0			7	870	+	T	T			Missense_Mutation	274						
CYP4F8	0	broad.mit.edu	GRCh37	19	15739191	15739191	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A			TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589787.1:n.2904G>A		*968*	ENST00000589787				0			1			A		uc002nbi.2	retained_intron	YES													large_intestine(1)	1	c.(1195-1197)GCC>ACC				cytochrome P450, family 4, subfamily F,						9-Jun	3.29E-05			0.000116		4.50E-05			rs766290409,COSM3403869	9-Jun	.		ENST00000589787	Transcript			prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	ENSG00000186526	g.chr19:15739191G>A	2648			MODIFIER								--	--	1																																		CYP4F8_uc010xoj.1_Missense_Mutation_p.A211T	0,1	1			p.A399T	NM_007253	NP_009184			0,1		CYP4F8	HGNC	P98187	CP4F8_HUMAN					12	1259	+				399					SNV	CYP4F8,non_coding_transcript_exon_variant,,ENST00000441682,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000589019,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000443973,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000325723,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000589722,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000589778,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000589787,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000590745,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000589927,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000585349,;	uc002nbi.2	c.1195G>A	2904/3366	2	2			c.1195G>A						19	SNP	c.(1195-1197)GCC>ACC	47	47			large_intestine(1)	1	Broad	cytochrome P450, family 4, subfamily F,			15739191		0.637	ENSG00000186526	4118	g.chr19:15739191G>A	prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding							-8.751083	KEEP	5	4	-1	64	43	5	4	-1	9.811177	64	43	0.06383	1	0	0	0	0	1	0	0	0	--	--		0	A			CYP4F8_uc010xoj.1_Missense_Mutation_p.A211T	235	GBM-32-2491-TP	p.A399T	G	CCCTACATTCGCCCGCGGCTG	NM_007253	NP_009184	15739191	P98187	CP4F8_HUMAN	0			12	1259	+	A	A			Missense_Mutation	399						
CYP4X1	0	broad.mit.edu	GRCh37	1	47498946	47498946	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371901.3:c.398G>A	p.Trp133Ter	p.W133*	ENST00000371901	NM_178033.1	133	tGg/tAg	0			1			A	W/*	uc001cqt.2	protein_coding	YES	CCDS544.1			398/1530									ovary(1)|skin(1)	2	c.(397-399)TGG>TAG			hmmpanther:PTHR24290:SF6,hmmpanther:PTHR24290,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	cytochrome P450, family 4, subfamily X,				ENSP00000360968		12-Apr									COSM3400855	12-Apr	.		ENST00000371901	Transcript				endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	ENSG00000186377	g.chr1:47498946G>A	20244			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,47498946,G,A&fts=all	W133*	--	--	1																																		CYP4X1_uc001cqr.2_Nonsense_Mutation_p.W132*|CYP4X1_uc001cqs.2_Nonsense_Mutation_p.W68*	1	1			p.W133*	NM_178033	NP_828847			1	CP4X1_HUMAN	CYP4X1	HGNC	Q8N118	CP4X1_HUMAN					4	648	+			UPI000003F043	133					SNV	CYP4X1,stop_gained,p.Trp133Ter,ENST00000371901,NM_178033.1;CYP4X1,stop_gained,p.Trp132Ter,ENST00000538609,;CYP4X1,upstream_gene_variant,,ENST00000466294,;	uc001cqt.2	c.398G>A	648/2357	5	2			c.398G>A						1	SNP	c.(397-399)TGG>TAG	17	17			ovary(1)|skin(1)	2	Broad	cytochrome P450, family 4, subfamily X,			47498946		0.423	ENSG00000186377	4120	g.chr1:47498946G>A		endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding							-20.798183	KEEP	1	3	-1	60	70	1	3	-1	7.421225	60	70	0.033613	1	0	0	0	0	0	1	0	0	--	--		0	A			CYP4X1_uc001cqr.2_Nonsense_Mutation_p.W132*|CYP4X1_uc001cqs.2_Nonsense_Mutation_p.W68*	160	GBM-19-1790-TP	p.W133*	G	GGACCCAAGTGGTTCCAGCAT	NM_178033	NP_828847	47498946	Q8N118	CP4X1_HUMAN	0			4	648	+	A	A			Nonsense_Mutation	133						
CYP4X1	0	broad.mit.edu	GRCh37	1	47512186	47512186	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371901.3:c.1121C>T	p.Thr374Met	p.T374M	ENST00000371901	NM_178033.1	374	aCg/aTg	0			1			T	T/M	uc001cqt.2	protein_coding	YES	CCDS544.1			1121/1530									ovary(1)|skin(1)	2	c.(1120-1122)ACG>ATG			hmmpanther:PTHR24290:SF6,hmmpanther:PTHR24290,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00385	cytochrome P450, family 4, subfamily X,				ENSP00000360968		12-Sep									COSM1290206	12-Sep	.		ENST00000371901	Transcript				endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	ENSG00000186377	g.chr1:47512186C>T	20244			MODERATE		2.745	medium	getma.org/?cm=msa&ty=f&p=CP4X1_HUMAN&rb=46&re=502&var=T374M	getma.org/pdb.php?prot=CP4X1_HUMAN&from=46&to=502&var=T374M	getma.org/?cm=var&var=hg19,1,47512186,C,T&fts=all	T374M	--	--	1																																		CYP4X1_uc001cqr.2_Missense_Mutation_p.T373M|CYP4X1_uc001cqs.2_Missense_Mutation_p.T309M	1	1		benign(0.049)	p.T374M	NM_178033	NP_828847		tolerated(0.05)	1	CP4X1_HUMAN	CYP4X1	HGNC	Q8N118	CP4X1_HUMAN					9	1371	+			UPI000003F043	374					SNV	CYP4X1,missense_variant,p.Thr374Met,ENST00000371901,NM_178033.1;CYP4X1,missense_variant,p.Thr373Met,ENST00000538609,;	uc001cqt.2	c.1121C>T	1371/2357	1	1			c.1121C>T						1	SNP	c.(1120-1122)ACG>ATG	16	16			ovary(1)|skin(1)	2	Broad	cytochrome P450, family 4, subfamily X,			47512186		0.493	ENSG00000186377	4120	g.chr1:47512186C>T		endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding							134.202036	KEEP	27	22	-1	45	37	27	22	-1	135.982494	45	37	0.370968	1	0	0	0	0	1	0	0	0	--	--		0	T			CYP4X1_uc001cqr.2_Missense_Mutation_p.T373M|CYP4X1_uc001cqs.2_Missense_Mutation_p.T309M	207	GBM-28-1753-TP	p.T374M	C	ATCAAGGAGACGTGCCGATTG	NM_178033	NP_828847	47512186	Q8N118	CP4X1_HUMAN	0			9	1371	+	T	T			Missense_Mutation	374						
CYP4X1	260293		GRCh37	1	47498961	47498961	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000371901.3:c.413G>A	p.Arg138His	p.R138H	ENST00000371901	NM_178033.1	138	cGc/cAc	0																																																																																																																																																																																																																																												
CYP4Z1	0	broad.mit.edu	GRCh37	1	47583502	47583502	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs145758676		TCGA-26-5134-01	TCGA-26-5134-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334194.3:c.1414C>T	p.Arg472Cys	p.R472C	ENST00000334194	NM_178134.2	472	Cgc/Tgc	0	T:0	T:0	1	T:0		T	R/C	uc001cqu.1	protein_coding	YES	CCDS545.1			1414/1518									skin(1)	1	c.(1414-1416)CGC>TGC			Prints_domain:PR00463,Superfamily_domains:SSF48264,Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF6	cytochrome P450 4Z1		T:0	T:0.0001	ENSP00000334246	T:0.001	12-Dec	0.000107					0.000105		0.000364	rs145758676,COSM2157009	12-Dec	.		ENST00000334194	Transcript		T:0.0002		endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	ENSG00000186160	g.chr1:47583502C>T	20583			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=CP4Z1_HUMAN&rb=47&re=500&var=R472C	getma.org/pdb.php?prot=CP4Z1_HUMAN&from=47&to=500&var=R472C	getma.org/?cm=var&var=hg19,1,47583502,C,T&fts=all	R472C	--	--	1																																			0,1	1		probably_damaging(0.965)	p.R472C	NM_178134	NP_835235	T:0	deleterious(0.04)	0,1	CP4Z1_HUMAN	CYP4Z1	HGNC	Q86W10	CP4Z1_HUMAN					12	1417	+			UPI00000477F8	472			Lumenal (Potential).		SNV	CYP4Z1,missense_variant,p.Arg472Cys,ENST00000334194,NM_178134.2;CYP4A22-AS1,intron_variant,,ENST00000444042,;CYP4Z1,non_coding_transcript_exon_variant,,ENST00000471598,;	uc001cqu.1	c.1414C>T	1417/1906	1	1			c.1414C>T						1	SNP	c.(1414-1416)CGC>TGC	4	4			skin(1)	1	Broad	cytochrome P450 4Z1			47583502		0.468	ENSG00000186160	4121	g.chr1:47583502C>T		endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding							167.764899	KEEP	31	24	-1	32	37	31	24	-1	168.029833	32	37	0.449153	1	0	0	0	0	1	0	0	0	--	--		0	T				183	GBM-26-5134-TP	p.R472C	C	AACTCTGCTCCGCTTCAAGCT	NM_178134	NP_835235	47583502	Q86W10	CP4Z1_HUMAN	0			12	1417	+	T	T			Missense_Mutation	472			Lumenal (Potential).			
CYP7A1	0	broad.mit.edu	GRCh37	8	59409723	59409723	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301645.3:c.348G>A	p.Pro116=	p.P116=	ENST00000301645	NM_000780.3	116	ccG/ccA	0			1			T	P	uc003xtm.3	protein_coding	YES	CCDS6171.1			348/1515									ovary(1)	1	c.(346-348)CCG>CCA			hmmpanther:PTHR24304,hmmpanther:PTHR24304:SF1,Pfam_domain:PF00067,Gene3D:1.10.630.10,PIRSF_domain:PIRSF000047,PIRSF_domain:PIRSF500625,Superfamily_domains:SSF48264	cytochrome P450, family 7, subfamily A,				ENSP00000301645		6-Mar	2.48E-05					4.59E-05			rs752121324,COSM2157382	6-Mar	.	Neonatal_Giant_Cell_Hepatitis	ENST00000301645	Transcript	1		bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	ENSG00000167910	g.chr8:59409723C>T	2651			LOW								--	--	1																																			0,1	1			p.P116P	NM_000780	NP_000771			0,1	CP7A1_HUMAN	CYP7A1	HGNC	P22680	CP7A1_HUMAN					3	411	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	UPI0000128214	116					SNV	CYP7A1,synonymous_variant,p.=,ENST00000301645,NM_000780.3;	uc003xtm.3	c.348G>A	486/2950	2	2			c.348G>A						8	SNP	c.(346-348)CCG>CCA	48	48			ovary(1)	1	Broad	cytochrome P450, family 7, subfamily A,			59409723	Neonatal_Giant_Cell_Hepatitis	0.418	ENSG00000167910	4123	g.chr8:59409723C>T	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding							124.149007	KEEP	17	29	-1	37	66	17	29	-1	128.445735	37	66	0.314286	1	0	0	0	0	0	0	1	0	--	--		0	T				246	GBM-32-4211-TP	p.P116P	C	TTCCATCCATCGGGTCAATGC	NM_000780	NP_000771	59409723	P22680	CP7A1_HUMAN	0			3	411	-	T	T		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	Silent	116						
CYP7B1	0	broad.mit.edu	GRCh37	8	65517238	65517238	+	splice_donor_variant	Splice_Site	SNP	C	C	A			TCGA-32-4210-01	TCGA-32-4210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310193.3:c.1233+1G>T		p.X411_splice	ENST00000310193	NM_004820.3			0			1			A		uc003xvj.2	protein_coding	YES	CCDS6180.1			1233/1521									ovary(3)	3	c.e5+1				cytochrome P450, family 7, subfamily B,				ENSP00000310721											COSM3367390		.		ENST00000310193	Transcript	1		bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	ENSG00000172817	g.chr8:65517238C>A	2652			HIGH	5-May							--	--	1																																			1	1			p.E411_splice	NM_004820	NP_004811			1	CP7B1_HUMAN	CYP7B1	HGNC	O75881	CP7B1_HUMAN					5	1437	-		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)	UPI0000128218						SNV	CYP7B1,splice_donor_variant,,ENST00000310193,NM_004820.3;CYP7B1,splice_donor_variant,,ENST00000523954,;	uc003xvj.2	c.1233_splice	-/2202	5	1			c.1233_splice						8	SNP	c.e5+1	55	55			ovary(3)	3	Broad	cytochrome P450, family 7, subfamily B,			65517238		0.493	ENSG00000172817	4124	g.chr8:65517238C>A	bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity							6.835765	KEEP	6	7	0.538461538	55	67	6	7	0.538461538	27.015829	55	67	0.096774	1	0	0	0	0	0	0	0	1	--	--		0	A				245	GBM-32-4210-TP	p.E411_splice	C	TGTTTACTTACCTCTGGAGCT	NM_004820	NP_004811	65517238	O75881	CP7B1_HUMAN	0			5	1437	-	A	A		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)	Splice_Site							
CYP8B1	0	broad.mit.edu	GRCh37	3	42916850	42916850	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0790-01	TCGA-14-0790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316161.4:c.459G>A	p.Thr153=	p.T153=	ENST00000316161	NM_004391.2	153	acG/acA	0			1			T	T	uc003cmh.2	protein_coding	YES	CCDS2707.1			459/1506									ovary(2)	2	c.(457-459)ACG>ACA			Superfamily_domains:SSF48264,PIRSF_domain:PIRSF500627,PIRSF_domain:PIRSF000047,Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24306,hmmpanther:PTHR24306:SF0	cytochrome P450, family 8, subfamily B,				ENSP00000318867		1-Jan	8.24E-06					1.50E-05			rs777771086,COSM3408678	1-Jan	.		ENST00000316161	Transcript			bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	ENSG00000180432	g.chr3:42916850C>T	2653			LOW								--	--	1																																		CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Silent_p.T153T	0,1	1			p.T153T	NM_004391	NP_004382			0,1	CP8B1_HUMAN	CYP8B1	HGNC	Q9UNU6	CP8B1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)			1	784	-			UPI000013FCE2	153					SNV	CYP8B1,synonymous_variant,p.=,ENST00000316161,NM_004391.2;CYP8B1,synonymous_variant,p.=,ENST00000437102,;KRBOX1,intron_variant,,ENST00000426937,;RP11-141M3.5,intron_variant,,ENST00000471537,;ACKR2,intron_variant,,ENST00000498111,;RP11-141M3.5,intron_variant,,ENST00000496604,;ACKR2,intron_variant,,ENST00000460855,;KRBOX1,intron_variant,,ENST00000451200,;RP11-141M3.5,intron_variant,,ENST00000487368,;	uc003cmh.2	c.459G>A	784/3950	2	2			c.459G>A						3	SNP	c.(457-459)ACG>ACA	36	36			ovary(2)	2	Broad	cytochrome P450, family 8, subfamily B,			42916850		0.512	ENSG00000180432	4125	g.chr3:42916850C>T	bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity							148.608348	KEEP	23	34	-1	38	42	23	34	-1	149.759958	38	42	0.398437	1	0	0	0	0	0	0	1	0	--	--		0	T			CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Silent_p.T153T	137	GBM-14-0790-TP	p.T153T	C	AGCCTTTGGACGTCAGCATTA	NM_004391	NP_004382	42916850	Q9UNU6	CP8B1_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)	1	784	-	T	T			Silent	153						
CYP8B1	0	broad.mit.edu	GRCh37	3	42916827	42916827	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1833-01	TCGA-27-1833-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316161.4:c.482C>T	p.Ala161Val	p.A161V	ENST00000316161	NM_004391.2	161	gCc/gTc	0			1			A	A/V	uc003cmh.2	protein_coding	YES	CCDS2707.1			482/1506									ovary(2)	2	c.(481-483)GCC>GTC			Superfamily_domains:SSF48264,PIRSF_domain:PIRSF500627,PIRSF_domain:PIRSF000047,Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24306,hmmpanther:PTHR24306:SF0	cytochrome P450, family 8, subfamily B,				ENSP00000318867		1-Jan									COSM3408677	1-Jan	.		ENST00000316161	Transcript			bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	ENSG00000180432	g.chr3:42916827G>A	2653			MODERATE		1.795	low	getma.org/?cm=msa&ty=f&p=CP8B1_HUMAN&rb=33&re=493&var=A161V	getma.org/pdb.php?prot=CP8B1_HUMAN&from=33&to=493&var=A161V	getma.org/?cm=var&var=hg19,3,42916827,G,A&fts=all	A161V	--	--	1																																		CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Missense_Mutation_p.A161V	1	1		possibly_damaging(0.686)	p.A161V	NM_004391	NP_004382		tolerated(0.15)	1	CP8B1_HUMAN	CYP8B1	HGNC	Q9UNU6	CP8B1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)			1	807	-			UPI000013FCE2	161					SNV	CYP8B1,missense_variant,p.Ala161Val,ENST00000316161,NM_004391.2;CYP8B1,missense_variant,p.Ala161Val,ENST00000437102,;KRBOX1,intron_variant,,ENST00000426937,;RP11-141M3.5,intron_variant,,ENST00000471537,;ACKR2,intron_variant,,ENST00000498111,;RP11-141M3.5,intron_variant,,ENST00000496604,;ACKR2,intron_variant,,ENST00000460855,;KRBOX1,intron_variant,,ENST00000451200,;RP11-141M3.5,intron_variant,,ENST00000487368,;	uc003cmh.2	c.482C>T	807/3950	1	1			c.482C>T						3	SNP	c.(481-483)GCC>GTC	64	64			ovary(2)	2	Broad	cytochrome P450, family 8, subfamily B,			42916827		0.522	ENSG00000180432	4125	g.chr3:42916827G>A	bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity							127.182357	KEEP	23	31	-1	56	54	23	31	-1	130.648891	56	54	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	A			CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Missense_Mutation_p.A161V	192	GBM-27-1833-TP	p.A161V	G	CCAGCAACTGGCATCCAGACT	NM_004391	NP_004382	42916827	Q9UNU6	CP8B1_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)	1	807	-	A	A			Missense_Mutation	161						
CYP8B1	0	broad.mit.edu	GRCh37	3	42916203	42916203	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01	TCGA-41-5651-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316161.4:c.1106C>T	p.Ser369Phe	p.S369F	ENST00000316161	NM_004391.2	369	tCc/tTc	0			1			A	S/F	uc003cmh.2	protein_coding	YES	CCDS2707.1			1106/1506									ovary(2)	2	c.(1105-1107)TCC>TTC			Superfamily_domains:SSF48264,PIRSF_domain:PIRSF500627,PIRSF_domain:PIRSF000047,Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24306,hmmpanther:PTHR24306:SF0	cytochrome P450, family 8, subfamily B,				ENSP00000318867		1-Jan									COSM3408676	1-Jan	.		ENST00000316161	Transcript			bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	ENSG00000180432	g.chr3:42916203G>A	2653			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=CP8B1_HUMAN&rb=33&re=493&var=S369F	getma.org/pdb.php?prot=CP8B1_HUMAN&from=33&to=493&var=S369F	getma.org/?cm=var&var=hg19,3,42916203,G,A&fts=all	S369F	--	--	1																																		CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Missense_Mutation_p.S369F	1	1		benign(0.237)	p.S369F	NM_004391	NP_004382		deleterious(0.01)	1	CP8B1_HUMAN	CYP8B1	HGNC	Q9UNU6	CP8B1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)			1	1431	-			UPI000013FCE2	369					SNV	CYP8B1,missense_variant,p.Ser369Phe,ENST00000316161,NM_004391.2;CYP8B1,missense_variant,p.Ser369Phe,ENST00000437102,;KRBOX1,intron_variant,,ENST00000426937,;RP11-141M3.5,intron_variant,,ENST00000471537,;ACKR2,intron_variant,,ENST00000498111,;RP11-141M3.5,intron_variant,,ENST00000496604,;ACKR2,intron_variant,,ENST00000460855,;KRBOX1,intron_variant,,ENST00000451200,;RP11-141M3.5,intron_variant,,ENST00000487368,;	uc003cmh.2	c.1106C>T	1431/3950	2	2			c.1106C>T						3	SNP	c.(1105-1107)TCC>TTC	18	18			ovary(2)	2	Broad	cytochrome P450, family 8, subfamily B,			42916203		0.592	ENSG00000180432	4125	g.chr3:42916203G>A	bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity							124.342323	KEEP	20	21	-1	18	24	20	21	-1	124.346535	18	24	0.506329	1	0	0	0	0	1	0	0	0	--	--		0	A			CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Missense_Mutation_p.S369F	258	GBM-41-5651-TP	p.S369F	G	CTGCCCACTGGACATCTTCAG	NM_004391	NP_004382	42916203	Q9UNU6	CP8B1_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)	1	1431	-	A	A			Missense_Mutation	369						
CYR61	0	broad.mit.edu	GRCh37	1	86047880	86047881	+	inframe_insertion	In_Frame_Ins	INS	-	-	TGG			TCGA-02-0033-01	TCGA-02-0033-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000451137.2:c.548_550dup	p.Leu183_Gly184insVal	p.L183_G184insV	ENST00000451137	NM_001554.4	183	ctg/cTGGtg	0			1			TGG	L/LV	uc001dle.2	protein_coding	YES	CCDS706.1			547-548/1146									central_nervous_system(1)	1	c.(547-549)CTG>CTGGTG			hmmpanther:PTHR11348,hmmpanther:PTHR11348:SF18,PIRSF_domain:PIRSF036495	cysteine-rich, angiogenic inducer, 61 precursor				ENSP00000398736		5-Mar										5-Mar	.		ENST00000451137	Transcript			cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding	ENSG00000142871	g.chr1:86047880_86047881insTGG	2654	3		MODERATE								--	--	1																																OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	CYR61_uc001dlg.2_In_Frame_Ins_p.12_13insV|CYR61_uc009wcp.1_5'Flank		1			p.183_184insV	NM_001554	NP_001545				CYR61_HUMAN	CYR61	HGNC	O00622	CYR61_HUMAN		all cancers(265;0.0216)|Epithelial(280;0.0441)	Q6FI18_HUMAN		3	771_772	+			UPI00000473C9	183_184					insertion	CYR61,inframe_insertion,p.Leu183_Gly184insVal,ENST00000451137,NM_001554.4;DDAH1,upstream_gene_variant,,ENST00000535924,NM_001134445.1;RP11-290M5.4,upstream_gene_variant,,ENST00000609367,;DDAH1,upstream_gene_variant,,ENST00000483110,;DDAH1,upstream_gene_variant,,ENST00000467530,;CYR61,downstream_gene_variant,,ENST00000480413,;DDAH1,upstream_gene_variant,,ENST00000498304,;	uc001dle.2	c.547_548insTGG	771-772/2290	5	5			c.547_548insTGG						1	INS	c.(547-549)CTG>CTGGTG	10	10			central_nervous_system(1)	1	Broad	cysteine-rich, angiogenic inducer, 61 precursor			86047881		0.559	ENSG00000142871	4126	g.chr1:86047880_86047881insTGG	cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding																				0.17	1	0	0	1	1	0	0	0	0	--	--		0	TGG	OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	CYR61_uc001dlg.2_In_Frame_Ins_p.12_13insV|CYR61_uc009wcp.1_5'Flank	2	GBM-02-0033-TP	p.183_184insV	-	TGGCAAGGAGCTGGGATTCGAT	NM_001554	NP_001545	86047880	O00622	CYR61_HUMAN	0		all cancers(265;0.0216)|Epithelial(280;0.0441)	3	771_772	+	TGG	TGG			In_Frame_Ins	183_184						
CYSLTR2	0	broad.mit.edu	GRCh37	13	49280992	49280992	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-1456-01	TCGA-14-1456-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282018.3:c.39C>T	p.Ser13=	p.S13=	ENST00000282018	NM_020377.2	13	tcC/tcT	0			1			T	S	uc010acx.1	protein_coding	YES	CCDS9412.1			39/1041									lung(2)	2	c.(37-39)TCC>TCT			hmmpanther:PTHR24230,hmmpanther:PTHR24230:SF10	cysteinyl leukotriene receptor 2	Nedocromil(DB00716)			ENSP00000282018		1-Jan	6.59E-05		8.65E-05			6.00E-05		0.000182	rs201922826,COSM1942495	1-Jan	.		ENST00000282018	Transcript			immune response	integral to membrane|plasma membrane		ENSG00000152207	g.chr13:49280992C>T	18274			LOW								--	--	1																																		CYSLTR2_uc010acy.1_Silent_p.S13S|CYSLTR2_uc010acz.1_Silent_p.S13S|CYSLTR2_uc010ada.1_Silent_p.S13S|CYSLTR2_uc010adb.1_Silent_p.S13S|CYSLTR2_uc010adc.1_Silent_p.S13S|CYSLTR2_uc010add.1_Silent_p.S13S|CYSLTR2_uc010acw.1_Silent_p.S13S|CYSLTR2_uc001vck.2_Silent_p.S13S	0,1	1			p.S13S	NM_020377	NP_065110			0,1	CLTR2_HUMAN	CYSLTR2	HGNC	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	Q5KU17_HUMAN		6	722	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	UPI000003BCCC	13			Extracellular (Potential).		SNV	CYSLTR2,synonymous_variant,p.=,ENST00000282018,NM_020377.2;	uc010acx.1	c.39C>T	42/2548	1	1			c.39C>T						13	SNP	c.(37-39)TCC>TCT	2	2			lung(2)	2	Broad	cysteinyl leukotriene receptor 2		Nedocromil(DB00716)	49280992		0.373	ENSG00000152207	4128	g.chr13:49280992C>T	immune response	integral to membrane|plasma membrane			p.S13S(NALM6-Tumor)	46		p.S13S(NALM6-Tumor)	46	-31.341614	KEEP	3	6	-1	113	105	3	6	-1	14.254792	113	105	0.035897	1	0	0	0	0	0	0	1	0	--	--		0	T			CYSLTR2_uc010acy.1_Silent_p.S13S|CYSLTR2_uc010acz.1_Silent_p.S13S|CYSLTR2_uc010ada.1_Silent_p.S13S|CYSLTR2_uc010adb.1_Silent_p.S13S|CYSLTR2_uc010adc.1_Silent_p.S13S|CYSLTR2_uc010add.1_Silent_p.S13S|CYSLTR2_uc010acw.1_Silent_p.S13S|CYSLTR2_uc001vck.2_Silent_p.S13S	146	GBM-14-1456-TP	p.S13S	C	CATCCATCTCCGTATCAGAAA	NM_020377	NP_065110	49280992	Q9NS75	CLTR2_HUMAN	0		GBM - Glioblastoma multiforme(99;1.19e-09)	6	722	+	T	T		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	Silent	13			Extracellular (Potential).			
CYSTM1	0	broad.mit.edu	GRCh37	5	139622928	139622928	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01	TCGA-41-3393-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261811.4:c.226C>T	p.Pro76Ser	p.P76S	ENST00000261811	NM_032412.3	76	Cca/Tca	0			1			T	P/S	uc003lfd.2	protein_coding	YES	CCDS4221.1			226/294										0	c.(226-228)CCA>TCA			Pfam_domain:PF12734,hmmpanther:PTHR31568	hypothetical protein LOC84418				ENSP00000261811		3-Mar	6.59E-05	9.61E-05				0.000105			rs200630553,COSM3409776	3-Mar	.		ENST00000261811	Transcript						ENSG00000120306	g.chr5:139622928C>T	30239			MODERATE								--	--	1																																		C5orf32_uc010jfi.2_RNA	0,1	1		unknown(0)	p.P76S	NM_032412	NP_115788		tolerated_low_confidence(0.41)	0,1	CYTM1_HUMAN	CYSTM1	HGNC	Q9H1C7	CE032_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				3	464	+			UPI000004A7BE	76					SNV	CYSTM1,missense_variant,p.Pro76Ser,ENST00000261811,NM_032412.3;PFDN1,downstream_gene_variant,,ENST00000261813,NM_002622.4;PFDN1,downstream_gene_variant,,ENST00000510217,;PFDN1,downstream_gene_variant,,ENST00000524074,;CYSTM1,non_coding_transcript_exon_variant,,ENST00000509789,;CYSTM1,non_coding_transcript_exon_variant,,ENST00000509589,;CYSTM1,non_coding_transcript_exon_variant,,ENST00000504227,;PFDN1,downstream_gene_variant,,ENST00000514611,;PFDN1,downstream_gene_variant,,ENST00000512925,;PFDN1,downstream_gene_variant,,ENST00000512707,;	uc003lfd.2	c.226C>T	890/1334	2	2			c.226C>T						5	SNP	c.(226-228)CCA>TCA	32	32				0	Broad	hypothetical protein LOC84418			139622928		0.582	ENSG00000120306	2245	g.chr5:139622928C>T										46.158681	KEEP	10	13	-1	37	41	10	13	-1	50.532957	37	41	0.253165	1	0	0	0	0	1	0	0	0	--	--		0	T			C5orf32_uc010jfi.2_RNA	255	GBM-41-3393-TP	p.P76S	C	TGAGCTAGGACCATCCACCTG	NM_032412	NP_115788	139622928	Q9H1C7	CE032_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	464	+	T	T			Missense_Mutation	76						
CYTH1	9267		GRCh37	17	76705733	76705733	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000361101.4:c.104A>G	p.Gln35Arg	p.Q35R	ENST00000361101	NM_017456.2	35	cAg/cGg	0																																																																																																																																																																																																																																												
CYTIP	9595	broad.mit.edu	GRCh37	2	158300464	158300464	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5414-01	TCGA-06-5414-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264192.3:c.69G>A	p.Ala23=	p.A23=	ENST00000264192	NM_004288.4	23	gcG/gcA	0	T:0		1			T	A	uc002tzj.1	protein_coding	YES	CCDS2204.1			69/1080									ovary(1)|kidney(1)|skin(1)	3	c.(67-69)GCG>GCA			hmmpanther:PTHR15963,hmmpanther:PTHR15963:SF1	cytohesin 1 interacting protein			T:0.0001	ENSP00000264192		8-Jan	0.000198		8.67E-05	0.000347		0.000285	0.0011		rs376714958,COSM3406959	8-Jan	.		ENST00000264192	Transcript			regulation of cell adhesion	cell cortex|early endosome	protein binding	ENSG00000115165	g.chr2:158300464C>T	9506			LOW								--	--	1																																		CYTIP_uc010zcl.1_Intron	0,1	1			p.A23A	NM_004288	NP_004279			0,1	CYTIP_HUMAN	CYTIP	HGNC	O60759	CYTIP_HUMAN			C9JSM2_HUMAN,C9JRF8_HUMAN,C9JNN8_HUMAN,B4DWH9_HUMAN		1	141	-			UPI0000035D67	23					SNV	CYTIP,synonymous_variant,p.=,ENST00000264192,NM_004288.4;CYTIP,5_prime_UTR_variant,,ENST00000435117,;CYTIP,5_prime_UTR_variant,,ENST00000439355,;CYTIP,intron_variant,,ENST00000540637,;CYTIP,upstream_gene_variant,,ENST00000418920,;AC019201.1,downstream_gene_variant,,ENST00000401235,;CYTIP,intron_variant,,ENST00000497432,;CYTIP,synonymous_variant,p.=,ENST00000457793,;CYTIP,non_coding_transcript_exon_variant,,ENST00000483929,;CYTIP,non_coding_transcript_exon_variant,,ENST00000462109,;	uc002tzj.1	c.69G>A	191/2260	2	2			c.69G>A						2	SNP	c.(67-69)GCG>GCA	18	18			ovary(1)|kidney(1)|skin(1)	3	Broad	cytohesin 1 interacting protein			158300464		0.512	ENSG00000115165	4133	g.chr2:158300464C>T	regulation of cell adhesion	cell cortex|early endosome	protein binding							135.927905	KEEP	32	26	-1	56	51	32	26	-1	139.419509	56	51	0.335616	1	0	0	0	0	0	0	1	0	--	--		0	T			CYTIP_uc010zcl.1_Intron	97	GBM-06-5414-TP	p.A23A	C	AAGAGCTATACGCTGGCCCAG	NM_004288	NP_004279	158300464	O60759	CYTIP_HUMAN	0			1	141	-	T	T			Silent	23						
DAAM2	23500	broad.mit.edu	GRCh37	6	39864627	39864627	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0188-01	TCGA-06-0188-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398904.2:c.2381G>A	p.Arg794His	p.R794H	ENST00000398904		794	cGt/cAt	0			1			A	R/H	uc003oow.2	protein_coding		CCDS56426.1			2381/3207									ovary(2)|skin(1)	3	c.(2380-2382)CGT>CAT			PROSITE_profiles:PS51444,hmmpanther:PTHR23213:SF171,hmmpanther:PTHR23213,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447	dishevelled associated activator of				ENSP00000274867		20/25	0.000107					0.000205			rs749927113,COSM1158000	20/25	.		ENST00000274867	Transcript			actin cytoskeleton organization		actin binding|Rho GTPase binding	ENSG00000146122	g.chr6:39864627G>A	18143			MODERATE		1.82	low	getma.org/?cm=msa&ty=f&p=DAAM2_HUMAN&rb=595&re=969&var=R794H	getma.org/pdb.php?prot=DAAM2_HUMAN&from=595&to=969&var=R794H	getma.org/?cm=var&var=hg19,6,39864627,G,A&fts=all	R794H	--	--	1																																		DAAM2_uc003oox.2_Missense_Mutation_p.R794H	0,1			benign(0.004)	p.R794H	NM_015345	NP_056160		deleterious(0.01)	0,1	DAAM2_HUMAN	DAAM2	HGNC	Q86T65	DAAM2_HUMAN					20	2537	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		UPI000020DC88	794			FH2.		SNV	DAAM2,missense_variant,p.Arg794His,ENST00000538976,NM_015345.3;DAAM2,missense_variant,p.Arg794His,ENST00000398904,;DAAM2,missense_variant,p.Arg794His,ENST00000274867,NM_001201427.1;RP11-61I13.3,intron_variant,,ENST00000430595,;RP11-61I13.3,intron_variant,,ENST00000606829,;RP11-61I13.3,intron_variant,,ENST00000420293,;RP11-61I13.3,downstream_gene_variant,,ENST00000437947,;MOCS1,downstream_gene_variant,,ENST00000373181,;	uc003oow.2	c.2381G>A	2537/6194	1	1			c.2381G>A						6	SNP	c.(2380-2382)CGT>CAT	60	60			ovary(2)|skin(1)	3	Broad	dishevelled associated activator of			39864627		0.612	ENSG00000146122	4142	g.chr6:39864627G>A	actin cytoskeleton organization		actin binding|Rho GTPase binding							49.98439	KEEP	10	7	-1	12	11	10	7	-1	50.120633	12	11	0.435897	1	0	0	0	0	1	0	0	0	--	--		0	A			DAAM2_uc003oox.2_Missense_Mutation_p.R794H	41	GBM-06-0188-TP	p.R794H	G	CGCAGCAAGCGTCTTAGACAG	NM_015345	NP_056160	39864627	Q86T65	DAAM2_HUMAN	0			20	2537	+	A	A	Ovarian(28;0.0355)|Colorectal(47;0.196)		Missense_Mutation	794			FH2.			
DAB1	0	broad.mit.edu	GRCh37	1	57491656	57491656	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01	TCGA-27-2527-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371231.1:c.883C>T	p.Pro295Ser	p.P295S	ENST00000371231		295	Ccc/Tcc	0			1			A	P/S	uc001cys.1	protein_coding					883/1767									skin(2)|ovary(1)	3	c.(784-786)CCC>TCC			Low_complexity_(Seg):seg,hmmpanther:PTHR11232:SF40,hmmpanther:PTHR11232	disabled homolog 1				ENSP00000360275		15-Nov									COSM3400908,COSM3400909	15-Nov	.		ENST00000371231	Transcript			cell differentiation|nervous system development			ENSG00000173406	g.chr1:57491656G>A	2661			MODERATE		-1.5	neutral	getma.org/?cm=msa&ty=f&p=DAB1_HUMAN&rb=181&re=586&var=P295S	NA	getma.org/?cm=var&var=hg19,1,57491656,G,A&fts=all	P295S	--	--	1																																		DAB1_uc001cyt.1_Missense_Mutation_p.P260S|DAB1_uc001cyq.1_Missense_Mutation_p.P260S|DAB1_uc001cyr.1_Missense_Mutation_p.P176S|DAB1_uc009vzw.1_Missense_Mutation_p.P244S|DAB1_uc009vzx.1_Missense_Mutation_p.P262S	1,1			benign(0.002)	p.P262S	NM_021080	NP_066566		tolerated(1)	1,1	DAB1_HUMAN	DAB1	HGNC	O75553	DAB1_HUMAN			Q8NFD0_HUMAN		12	1458	-			UPI000040DC2E	295	P -> S (in Ref. 6; AAH67447).				SNV	DAB1,missense_variant,p.Pro262Ser,ENST00000371236,;DAB1,missense_variant,p.Pro262Ser,ENST00000371234,NM_021080.3;DAB1,missense_variant,p.Pro260Ser,ENST00000420954,;DAB1,missense_variant,p.Pro295Ser,ENST00000371231,;DAB1,missense_variant,p.Pro244Ser,ENST00000414851,;DAB1,missense_variant,p.Pro176Ser,ENST00000439789,;DAB1,missense_variant,p.Pro176Ser,ENST00000371232,;DAB1,splice_region_variant,,ENST00000485760,;	uc001cys.1	c.784C>T	918/1802	2	2			c.784C>T						1	SNP	c.(784-786)CCC>TCC	28	28			skin(2)|ovary(1)	3	Broad	disabled homolog 1			57491656		0.358	ENSG00000173406	4143	g.chr1:57491656G>A	cell differentiation|nervous system development					395			395	83.857961	KEEP	24	20	-1	114	126	24	20	-1	108.91227	114	126	0.167364	1	0	0	0	0	1	0	0	0	--	--		0	A			DAB1_uc001cyt.1_Missense_Mutation_p.P260S|DAB1_uc001cyq.1_Missense_Mutation_p.P260S|DAB1_uc001cyr.1_Missense_Mutation_p.P176S|DAB1_uc009vzw.1_Missense_Mutation_p.P244S|DAB1_uc009vzx.1_Missense_Mutation_p.P262S	204	GBM-27-2527-TP	p.P262S	G	ATACTTACGGGGGGAGAGGTT	NM_021080	NP_066566	57491656	O75553	DAB1_HUMAN	0			12	1458	-	A	A			Missense_Mutation	295	P -> S (in Ref. 6; AAH67447).					
DAB1	1600		GRCh37	1	57480758	57480758	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000371236.2:c.1242G>A	p.Thr414=	p.T414=	ENST00000371236		414	acG/acA	0																																																																																																																																																																																																																																												
DAB2IP	153090	broad.mit.edu	GRCh37	9	124535257	124535257	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01	TCGA-06-0124-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259371.2:c.2366C>T	p.Pro789Leu	p.P789L	ENST00000259371	NM_032552.2	789	cCa/cTa	0			1			T	P/L	uc004bln.2	protein_coding					2450/3570									ovary(1)|central_nervous_system(1)	2	c.(2365-2367)CCA>CTA			Pfam_domain:PF12004,hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF26	disabled homolog 2 interacting protein isoform				ENSP00000386183		16-Dec									COSM2149298,COSM2149297	16-Dec	.		ENST00000408936	Transcript			activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	ENSG00000136848	g.chr9:124535257C>T	17294			MODERATE		1.155	low	getma.org/?cm=msa&ty=f&p=DAB2P_HUMAN&rb=646&re=1159&var=P817L	NA	getma.org/?cm=var&var=hg19,9,124535257,C,T&fts=all	P817L	--	--	1																																		DAB2IP_uc004blo.2_Missense_Mutation_p.P693L|DAB2IP_uc004blp.2_Missense_Mutation_p.P222L	1,1			probably_damaging(0.967)	p.P789L	NM_032552	NP_115941		tolerated(0.3)	1,1	DAB2P_HUMAN	DAB2IP	HGNC	Q5VWQ8	DAB2P_HUMAN			F6R503_HUMAN		12	2435	+			UPI0000E44499	817					SNV	DAB2IP,missense_variant,p.Pro817Leu,ENST00000408936,;DAB2IP,missense_variant,p.Pro789Leu,ENST00000259371,NM_032552.2;DAB2IP,missense_variant,p.Pro726Leu,ENST00000373782,;DAB2IP,missense_variant,p.Pro693Leu,ENST00000309989,NM_138709.1;DAB2IP,downstream_gene_variant,,ENST00000459906,;	uc004bln.2	c.2366C>T	2632/6784	1	1			c.2366C>T						9	SNP	c.(2365-2367)CCA>CTA	1	1			ovary(1)|central_nervous_system(1)	2	Broad	disabled homolog 2 interacting protein isoform			124535257		0.726	ENSG00000136848	4145	g.chr9:124535257C>T	activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity							48.563642	KEEP	11	11	-1	40	28	11	11	-1	52.254902	40	28	0.266667	1	0	0	0	0	1	0	0	0	--	--		0	T			DAB2IP_uc004blo.2_Missense_Mutation_p.P693L|DAB2IP_uc004blp.2_Missense_Mutation_p.P222L	11	GBM-06-0124-TP	p.P789L	C	GAGGGCGCGCCAGGCCGGCCC	NM_032552	NP_115941	124535257	Q5VWQ8	DAB2P_HUMAN	0			12	2435	+	T	T			Missense_Mutation	817						
DAB2IP	153090	broad.mit.edu	GRCh37	9	124528842	124528842	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259371.2:c.1446G>A	p.Pro482=	p.P482=	ENST00000259371	NM_032552.2	482	ccG/ccA	0	A:0.0007		1			A	P	uc004bln.2	protein_coding					1530/3570									ovary(1)|central_nervous_system(1)	2	c.(1444-1446)CCG>CCA			Gene3D:1.10.506.10,Pfam_domain:PF00616,PROSITE_profiles:PS50018,hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF26,SMART_domains:SM00323,Superfamily_domains:SSF48350	disabled homolog 2 interacting protein isoform			A:0	ENSP00000386183		16-Sep	3.29E-05	0.000193				3.01E-05			rs372045771,COSM3323063,COSM3323062	16-Sep	.		ENST00000408936	Transcript			activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	ENSG00000136848	g.chr9:124528842G>A	17294			LOW								--	--	1																																		DAB2IP_uc004blo.2_Silent_p.P386P|DAB2IP_uc004blp.2_5'Flank	0,1,1				p.P482P	NM_032552	NP_115941			0,1,1	DAB2P_HUMAN	DAB2IP	HGNC	Q5VWQ8	DAB2P_HUMAN			F6R503_HUMAN		9	1515	+			UPI0000E44499	510			Ras-GAP.		SNV	DAB2IP,synonymous_variant,p.=,ENST00000408936,;DAB2IP,synonymous_variant,p.=,ENST00000259371,NM_032552.2;DAB2IP,synonymous_variant,p.=,ENST00000373782,;DAB2IP,synonymous_variant,p.=,ENST00000309989,NM_138709.1;DAB2IP,intron_variant,,ENST00000459906,;	uc004bln.2	c.1446G>A	1712/6784	1	1			c.1446G>A						9	SNP	c.(1444-1446)CCG>CCA	64	64			ovary(1)|central_nervous_system(1)	2	Broad	disabled homolog 2 interacting protein isoform			124528842		0.617	ENSG00000136848	4145	g.chr9:124528842G>A	activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity							262.539884	KEEP	34	52	-1	9	15	34	52	-1	270.532538	9	15	0.792079	1	0	0	0	0	0	0	1	0	--	--		0	A			DAB2IP_uc004blo.2_Silent_p.P386P|DAB2IP_uc004blp.2_5'Flank	102	GBM-06-5858-TP	p.P482P	G	GCGGCCGCCCGGACATCAGTG	NM_032552	NP_115941	124528842	Q5VWQ8	DAB2P_HUMAN	0			9	1515	+	A	A			Silent	510			Ras-GAP.			
DAB2IP	0	broad.mit.edu	GRCh37	9	124538504	124538504	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-19-2624-01	TCGA-19-2624-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408936.3:c.3148C>T	p.Arg1050Ter	p.R1050*	ENST00000408936		1050	Cga/Tga	0			1			T	R/*	uc004bln.2	protein_coding					3148/3570									ovary(1)|central_nervous_system(1)	2	c.(3064-3066)CGA>TGA			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF12004,hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF26	disabled homolog 2 interacting protein isoform				ENSP00000386183		14/16									COSM3413315,COSM3413314	14/16	.		ENST00000408936	Transcript			activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	ENSG00000136848	g.chr9:124538504C>T	17294			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,9,124538504,C,T&fts=all	R1050*	--	--	1																																		DAB2IP_uc004blo.2_Nonsense_Mutation_p.R926*|DAB2IP_uc004blp.2_Nonsense_Mutation_p.R455*	1,1				p.R1022*	NM_032552	NP_115941			1,1	DAB2P_HUMAN	DAB2IP	HGNC	Q5VWQ8	DAB2P_HUMAN			F6R503_HUMAN		14	3133	+			UPI0000E44499	1050			Potential.		SNV	DAB2IP,stop_gained,p.Arg1050Ter,ENST00000408936,;DAB2IP,stop_gained,p.Arg1022Ter,ENST00000259371,NM_032552.2;DAB2IP,stop_gained,p.Arg959Ter,ENST00000373782,;DAB2IP,stop_gained,p.Arg926Ter,ENST00000309989,NM_138709.1;	uc004bln.2	c.3064C>T	3330/6784	5	1			c.3064C>T						9	SNP	c.(3064-3066)CGA>TGA	12	12			ovary(1)|central_nervous_system(1)	2	Broad	disabled homolog 2 interacting protein isoform			124538504		0.622	ENSG00000136848	4145	g.chr9:124538504C>T	activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity							7.150216	KEEP	0	2	-1	1	1	0	2	-1	7.150215	1	1	0.5	1	0	0	0	0	0	1	0	0	--	--		0	T			DAB2IP_uc004blo.2_Nonsense_Mutation_p.R926*|DAB2IP_uc004blp.2_Nonsense_Mutation_p.R455*	164	GBM-19-2624-TP	p.R1022*	C	GGACAAGCTGCGAATCTCCAC	NM_032552	NP_115941	124538504	Q5VWQ8	DAB2P_HUMAN	0			14	3133	+	T	T			Nonsense_Mutation	1050			Potential.			
DACH1	0	broad.mit.edu	GRCh37	13	72053352	72053352	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-28-5204-01	TCGA-28-5204-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305425.4:c.1825G>T	p.Glu609Ter	p.E609*	ENST00000305425	NM_080759.4	609	Gaa/Taa	0			1			A	E/*	uc010thn.1	protein_coding	YES	CCDS41899.1			1825/2127									breast(1)	1	c.(1819-1821)GAA>TAA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12577,hmmpanther:PTHR12577:SF14,Low_complexity_(Seg):seg	dachshund homolog 1 isoform a				ENSP00000304994		11-Aug									COSM3399437,COSM3399438	11-Aug	.		ENST00000305425	Transcript			multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	ENSG00000165659	g.chr13:72053352C>A	2663			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,13,72053352,C,A&fts=all	E659*	--	--	1																																		DACH1_uc010tho.1_Nonsense_Mutation_p.E459*|DACH1_uc010thp.1_Nonsense_Mutation_p.E405*	1,1	1			p.E607*	NM_080759	NP_542937			1,1	DACH1_HUMAN	DACH1	HGNC	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)			9	2242	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	UPI00001FCE9E	659			DACHbox-C.|Potential.|Interaction with SIN3A (By similarity).		SNV	DACH1,stop_gained,p.Glu609Ter,ENST00000305425,NM_080759.4;DACH1,stop_gained,p.Glu461Ter,ENST00000313174,NM_080760.4;DACH1,stop_gained,p.Glu407Ter,ENST00000354591,NM_004392.5;DACH1,stop_gained,p.Glu661Ter,ENST00000359684,;	uc010thn.1	c.1819G>T	2248/5239	5	2			c.1819G>T						13	SNP	c.(1819-1821)GAA>TAA	21	21			breast(1)	1	Broad	dachshund homolog 1 isoform a			72053352		0.363	ENSG00000165659	4146	g.chr13:72053352C>A	multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			202			202	218.425666	KEEP	47	47	0.5	70	76	47	47	0.5	221.127675	70	76	0.381818	1	0	0	0	0	0	1	0	0	--	--		0	A			DACH1_uc010tho.1_Nonsense_Mutation_p.E459*|DACH1_uc010thp.1_Nonsense_Mutation_p.E405*	215	GBM-28-5204-TP	p.E607*	C	TCCCTTAGTTCTCTTTCCCTT	NM_080759	NP_542937	72053352	Q9UI36	DACH1_HUMAN	0		GBM - Glioblastoma multiforme(99;0.00032)	9	2242	-	A	A		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	Nonsense_Mutation	659			DACHbox-C.|Potential.|Interaction with SIN3A (By similarity).			
DACH1	1602		GRCh37	13	72147083	72147083	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000305425.4:c.1194A>G	p.Ala398=	p.A398=	ENST00000305425	NM_080759.4	398	gcA/gcG	0																																																																																																																																																																																																																																												
DACH2	117154		GRCh37	X	86068163	86068163	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000373125.4:c.1420C>T	p.Arg474Cys	p.R474C	ENST00000373125	NM_053281.3	474	Cgc/Tgc	0																																																																																																																																																																																																																																												
DACT1	51339	broad.mit.edu	GRCh37	14	59113060	59113060	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-2565-01	TCGA-06-2565-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335867.4:c.1719C>A	p.His573Gln	p.H573Q	ENST00000335867		573	caC/caA	0			1			A	H/Q	uc001xdw.2	protein_coding	YES	CCDS9736.1			1719/2511									large_intestine(2)|lung(2)|ovary(1)	5	c.(1717-1719)CAC>CAA			Pfam_domain:PF15268,hmmpanther:PTHR15919,hmmpanther:PTHR15919:SF12	dapper 1 isoform 1				ENSP00000337439		4-Apr									COSM3401371	4-Apr	.		ENST00000335867	Transcript	1		multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		ENSG00000165617	g.chr14:59113060C>A	17748			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=DACT1_HUMAN&rb=1&re=834&var=H573Q	NA	getma.org/?cm=var&var=hg19,14,59113060,C,A&fts=all	H573Q	--	--	1																																		DACT1_uc010trv.1_Missense_Mutation_p.H292Q|DACT1_uc001xdx.2_Missense_Mutation_p.H536Q|DACT1_uc010trw.1_Missense_Mutation_p.H292Q	1	1		benign(0.007)	p.H573Q	NM_016651	NP_057735		tolerated(0.59)	1	DACT1_HUMAN	DACT1	HGNC	Q9NYF0	DACT1_HUMAN			Q5DM88_HUMAN,C9JGV7_HUMAN,B7Z673_HUMAN		4	1883	+			UPI000013E4D3	573					SNV	DACT1,missense_variant,p.His536Gln,ENST00000395153,NM_016651.5,NM_001079520.1;DACT1,missense_variant,p.His292Gln,ENST00000541264,;DACT1,missense_variant,p.His573Gln,ENST00000335867,;DACT1,missense_variant,p.His292Gln,ENST00000556859,;DACT1,downstream_gene_variant,,ENST00000421793,;DACT1,downstream_gene_variant,,ENST00000555845,;	uc001xdw.2	c.1719C>A	1743/2571	2	2			c.1719C>A						14	SNP	c.(1717-1719)CAC>CAA	40	40			large_intestine(2)|lung(2)|ovary(1)	5	Broad	dapper 1 isoform 1			59113060		0.657	ENSG00000165617	4148	g.chr14:59113060C>A	multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus								-2.314823	KEEP	2	1	0.333333333	23	27	2	1	0.333333333	6.987957	23	27	0.06383	1	0	0	0	0	1	0	0	0	--	--		0	A			DACT1_uc010trv.1_Missense_Mutation_p.H292Q|DACT1_uc001xdx.2_Missense_Mutation_p.H536Q|DACT1_uc010trw.1_Missense_Mutation_p.H292Q	88	GBM-06-2565-TP	p.H573Q	C	ACCGGGGCCACAGGAACATGG	NM_016651	NP_057735	59113060	Q9NYF0	DACT1_HUMAN	0			4	1883	+	A	A			Missense_Mutation	573						
DAG1	1605	broad.mit.edu	GRCh37	3	49568839	49568839	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0749-01	TCGA-06-0749-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000545947.1:c.895A>G	p.Ile299Val	p.I299V	ENST00000545947	NM_001177634.2	299	Atc/Gtc	0			1			G	I/V	uc003cxc.3	protein_coding		CCDS2799.1			895/2688									ovary(2)	2	c.(895-897)ATC>GTC			Superfamily_domains:0044193,Gene3D:1u2cA02,hmmpanther:PTHR21559	dystroglycan 1 preproprotein				ENSP00000312435		3-Mar									COSM2151882	3-Mar	.		ENST00000308775	Transcript	1		cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding	ENSG00000173402	g.chr3:49568839A>G	2666			MODERATE		0.64	neutral	getma.org/?cm=msa&ty=f&p=DAG1_HUMAN&rb=201&re=400&var=I299V	getma.org/pdb.php?prot=DAG1_HUMAN&from=201&to=400&var=I299V	getma.org/?cm=var&var=hg19,3,49568839,A,G&fts=all	I299V	--	--	1																																			1			benign(0.235)	p.I299V	NM_004393	NP_004384		tolerated(0.39)	1	DAG1_HUMAN	DAG1	HGNC	Q14118	DAG1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	C9JYS1_HUMAN,C9JY76_HUMAN,C9JQL4_HUMAN,C9JEN1_HUMAN,C9JEH2_HUMAN,C9J6Z6_HUMAN,C9J196_HUMAN		3	1313	+			UPI000013EDAE	299			Required for laminin recognition.		SNV	DAG1,missense_variant,p.Ile299Val,ENST00000545947,NM_001177634.2;DAG1,missense_variant,p.Ile299Val,ENST00000541308,NM_001177638.2,NM_001177641.2,NM_001165928.3;DAG1,missense_variant,p.Ile299Val,ENST00000539901,NM_001177644.2;DAG1,missense_variant,p.Ile299Val,ENST00000538711,NM_001177642.2,NM_001177635.2,NM_001177640.2;DAG1,missense_variant,p.Ile299Val,ENST00000515359,NM_001177643.2,NM_001177636.2,NM_001177637.2;DAG1,missense_variant,p.Ile299Val,ENST00000308775,NM_001177639.2,NM_004393.5;DAG1,downstream_gene_variant,,ENST00000421560,;DAG1,downstream_gene_variant,,ENST00000431960,;DAG1,downstream_gene_variant,,ENST00000479935,;DAG1,downstream_gene_variant,,ENST00000461492,;	uc003cxc.3	c.895A>G	1313/5518	3	3			c.895A>G						3	SNP	c.(895-897)ATC>GTC	64	64			ovary(2)	2	Broad	dystroglycan 1 preproprotein			49568839		0.597	ENSG00000173402	4150	g.chr3:49568839A>G	cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding							83.94111	KEEP	18	17	-1	40	34	18	17	-1	86.833283	40	34	0.32	1	0	0	0	0	1	0	0	0	--	--		0	G				69	GBM-06-0749-TP	p.I299V	A	GGGTTGGCACATCGCCAATAA	NM_004393	NP_004384	49568839	Q14118	DAG1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1313	+	G	G			Missense_Mutation	299			Required for laminin recognition.			
DAG1	1605	broad.mit.edu	GRCh37	3	49570453	49570453	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0881-01	TCGA-06-0881-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000545947.1:c.2509C>T	p.Pro837Ser	p.P837S	ENST00000545947	NM_001177634.2	837	Ccc/Tcc	0			1			T	P/S	uc003cxc.3	protein_coding		CCDS2799.1			2509/2688									ovary(2)	2	c.(2509-2511)CCC>TCC			Pfam_domain:PF05454,hmmpanther:PTHR21559	dystroglycan 1 preproprotein				ENSP00000312435		3-Mar									COSM3408742	3-Mar	.		ENST00000308775	Transcript	1		cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding	ENSG00000173402	g.chr3:49570453C>T	2666			MODERATE		2.19	medium	getma.org/?cm=msa&ty=f&p=DAG1_HUMAN&rb=606&re=895&var=P837S	NA	getma.org/?cm=var&var=hg19,3,49570453,C,T&fts=all	P837S	--	--	1																																			1			probably_damaging(1)	p.P837S	NM_004393	NP_004384		tolerated(0.1)	1	DAG1_HUMAN	DAG1	HGNC	Q14118	DAG1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	C9JYS1_HUMAN,C9JY76_HUMAN,C9JQL4_HUMAN,C9JEN1_HUMAN,C9JEH2_HUMAN,C9J6Z6_HUMAN,C9J196_HUMAN		3	2927	+			UPI000013EDAE	837			Pro-rich.|Required for interaction with CAV3.|Cytoplasmic (Potential).		SNV	DAG1,missense_variant,p.Pro837Ser,ENST00000545947,NM_001177634.2;DAG1,missense_variant,p.Pro837Ser,ENST00000541308,NM_001177638.2,NM_001177641.2,NM_001165928.3;DAG1,missense_variant,p.Pro837Ser,ENST00000539901,NM_001177644.2;DAG1,missense_variant,p.Pro837Ser,ENST00000538711,NM_001177642.2,NM_001177635.2,NM_001177640.2;DAG1,missense_variant,p.Pro837Ser,ENST00000515359,NM_001177643.2,NM_001177636.2,NM_001177637.2;DAG1,missense_variant,p.Pro837Ser,ENST00000308775,NM_001177639.2,NM_004393.5;DAG1,downstream_gene_variant,,ENST00000421560,;DAG1,downstream_gene_variant,,ENST00000431960,;DAG1,downstream_gene_variant,,ENST00000479935,;DAG1,downstream_gene_variant,,ENST00000461492,;	uc003cxc.3	c.2509C>T	2927/5518	2	2			c.2509C>T						3	SNP	c.(2509-2511)CCC>TCC	20	20			ovary(2)	2	Broad	dystroglycan 1 preproprotein			49570453		0.637	ENSG00000173402	4150	g.chr3:49570453C>T	cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding							-29.816472	KEEP	0	4	-1	68	89	0	4	-1	6.736287	68	89	0.027027	1	0	0	0	0	1	0	0	0	--	--		0	T				76	GBM-06-0881-TP	p.P837S	C	CCAGAGTGTGCCCGAGACCAC	NM_004393	NP_004384	49570453	Q14118	DAG1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	2927	+	T	T			Missense_Mutation	837			Pro-rich.|Required for interaction with CAV3.|Cytoplasmic (Potential).			
DAGLA	747	broad.mit.edu	GRCh37	11	61511858	61511858	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0216-01	TCGA-06-0216-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257215.5:c.3026G>A	p.Ser1009Asn	p.S1009N	ENST00000257215	NM_006133.2	1009	aGt/aAt	0			1			A	S/N	uc001nsa.2	protein_coding	YES	CCDS31578.1			3026/3129									ovary(2)|central_nervous_system(1)	3	c.(3025-3027)AGT>AAT				neural stem cell-derived dendrite regulator				ENSP00000257215		20/20									COSM2150925	20/20	.		ENST00000257215	Transcript	1		cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	ENSG00000134780	g.chr11:61511858G>A	1165			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=DGLA_HUMAN&rb=723&re=1040&var=S1009N	NA	getma.org/?cm=var&var=hg19,11,61511858,G,A&fts=all	S1009N	--	--	1																																			1	1		benign(0.196)	p.S1009N	NM_006133	NP_006124		deleterious_low_confidence(0.01)	1	DGLA_HUMAN	DAGLA	HGNC	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)			20	3137	+			UPI00001678B3	1009			Cytoplasmic (Potential).		SNV	DAGLA,missense_variant,p.Ser1009Asn,ENST00000257215,NM_006133.2;RP11-467L20.10,downstream_gene_variant,,ENST00000536405,;RP11-467L20.10,downstream_gene_variant,,ENST00000541891,;DAGLA,3_prime_UTR_variant,,ENST00000540717,;	uc001nsa.2	c.3026G>A	3142/5757	1	1			c.3026G>A						11	SNP	c.(3025-3027)AGT>AAT	63	63			ovary(2)|central_nervous_system(1)	3	Broad	neural stem cell-derived dendrite regulator			61511858		0.657	ENSG00000134780	4151	g.chr11:61511858G>A	cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity							86.138383	KEEP	17	23	-1	46	42	17	23	-1	89.090705	46	42	0.320388	1	0	0	0	0	1	0	0	0	--	--		0	A				51	GBM-06-0216-TP	p.S1009N	G	ACGGGCCTCAGTAGCCAGGAA	NM_006133	NP_006124	61511858	Q9Y4D2	DGLA_HUMAN	0		READ - Rectum adenocarcinoma(4;0.219)	20	3137	+	A	A			Missense_Mutation	1009			Cytoplasmic (Potential).			
DAGLA	747	broad.mit.edu	GRCh37	11	61490356	61490356	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0645-01	TCGA-06-0645-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257215.5:c.333C>T	p.Tyr111=	p.Y111=	ENST00000257215	NM_006133.2	111	taC/taT	0	T:0.0002		1			T	Y	uc001nsa.2	protein_coding	YES	CCDS31578.1			333/3129									ovary(2)|central_nervous_system(1)	3	c.(331-333)TAC>TAT			hmmpanther:PTHR21493,hmmpanther:PTHR21493:SF87,Transmembrane_helices:TMhelix	neural stem cell-derived dendrite regulator			T:0	ENSP00000257215		20-Apr	6.59E-05	0.000193	0.000173					0.000242	rs374808753,COSM3397970	20-Apr	.		ENST00000257215	Transcript	1		cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	ENSG00000134780	g.chr11:61490356C>T	1165			LOW								--	--	1																																			0,1	1			p.Y111Y	NM_006133	NP_006124			0,1	DGLA_HUMAN	DAGLA	HGNC	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)			4	444	+			UPI00001678B3	111			Helical; (Potential).		SNV	DAGLA,synonymous_variant,p.=,ENST00000257215,NM_006133.2;DAGLA,missense_variant,p.Arg104Cys,ENST00000540717,;	uc001nsa.2	c.333C>T	449/5757	1	1			c.333C>T						11	SNP	c.(331-333)TAC>TAT	3	3			ovary(2)|central_nervous_system(1)	3	Broad	neural stem cell-derived dendrite regulator			61490356		0.607	ENSG00000134780	4151	g.chr11:61490356C>T	cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity							-20.524908	KEEP	1	4	-1	95	49	1	4	-1	9.110985	95	49	0.03876	1	0	0	0	0	0	0	1	0	--	--		0	T				59	GBM-06-0645-TP	p.Y111Y	C	AGTTCATCTACGCCATCGTGG	NM_006133	NP_006124	61490356	Q9Y4D2	DGLA_HUMAN	0		READ - Rectum adenocarcinoma(4;0.219)	4	444	+	T	T			Silent	111			Helical; (Potential).			
DAGLB	221955	broad.mit.edu	GRCh37	7	6476110	6476110	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-5413-01	TCGA-06-5413-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297056.6:c.302G>T	p.Arg101Leu	p.R101L	ENST00000297056	NM_139179.3	101	cGc/cTc	0			1			A	R/L	uc003sqa.2	protein_coding	YES	CCDS5350.1			302/2019									ovary(2)|central_nervous_system(1)	3	c.(301-303)CGC>CTC			Transmembrane_helices:TMhelix,hmmpanther:PTHR21493:SF8,hmmpanther:PTHR21493	diacylglycerol lipase, beta isoform 1				ENSP00000297056		15-Mar									COSM2153198	15-Mar	.		ENST00000297056	Transcript			lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	ENSG00000164535	g.chr7:6476110C>A	28923			MODERATE		2.8	medium	getma.org/?cm=msa&ty=f&p=DGLB_HUMAN&rb=1&re=200&var=R101L	NA	getma.org/?cm=var&var=hg19,7,6476110,C,A&fts=all	R101L	--	--	1																																		DAGLB_uc011jwt.1_5'Flank|DAGLB_uc011jwu.1_Missense_Mutation_p.R101L|DAGLB_uc003sqb.2_Intron|DAGLB_uc003sqc.2_Intron|DAGLB_uc011jwv.1_Intron|DAGLB_uc003sqd.3_Missense_Mutation_p.R60L|DAGLB_uc011jww.1_Intron	1	1		probably_damaging(0.998)	p.R101L	NM_139179	NP_631918		deleterious(0)	1	DGLB_HUMAN	DAGLB	HGNC	Q8NCG7	DGLB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	E7ET49_HUMAN,B3KR38_HUMAN		3	472	-		Ovarian(82;0.232)	UPI000006E01F	101			Cytoplasmic (Potential).		SNV	DAGLB,missense_variant,p.Arg101Leu,ENST00000297056,NM_139179.3;DAGLB,missense_variant,p.Arg60Leu,ENST00000436575,;DAGLB,missense_variant,p.Arg101Leu,ENST00000425398,NM_001142936.1;DAGLB,missense_variant,p.Arg101Leu,ENST00000432248,;DAGLB,intron_variant,,ENST00000428902,;DAGLB,intron_variant,,ENST00000421761,;DAGLB,non_coding_transcript_exon_variant,,ENST00000479922,;DAGLB,intron_variant,,ENST00000454738,;	uc003sqa.2	c.302G>T	472/2897	2	2			c.302G>T						7	SNP	c.(301-303)CGC>CTC	41	41			ovary(2)|central_nervous_system(1)	3	Broad	diacylglycerol lipase, beta isoform 1			6476110		0.522	ENSG00000164535	4152	g.chr7:6476110C>A	lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity							160.464668	KEEP	27	38	0.584615385	84	106	27	38	0.584615385	173.090686	84	106	0.25641	1	0	0	0	0	1	0	0	0	--	--		0	A			DAGLB_uc011jwt.1_5'Flank|DAGLB_uc011jwu.1_Missense_Mutation_p.R101L|DAGLB_uc003sqb.2_Intron|DAGLB_uc003sqc.2_Intron|DAGLB_uc011jwv.1_Intron|DAGLB_uc003sqd.3_Missense_Mutation_p.R60L|DAGLB_uc011jww.1_Intron	96	GBM-06-5413-TP	p.R101L	C	CAGCGCCAGGCGGATGTAAAG	NM_139179	NP_631918	6476110	Q8NCG7	DGLB_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	3	472	-	A	A		Ovarian(82;0.232)	Missense_Mutation	101			Cytoplasmic (Potential).			
DAO	1610	broad.mit.edu	GRCh37	12	109288048	109288048	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0126-01	TCGA-06-0126-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000228476.3:c.517G>A	p.Glu173Lys	p.E173K	ENST00000228476	NM_001917.4	173	Gaa/Aaa	0			1			A	E/K	uc001tnr.3	protein_coding	YES	CCDS9122.1			517/1044									ovary(1)|skin(1)	2	c.(517-519)GAA>AAA			Gene3D:3.50.50.60,Pfam_domain:PF01266,PIRSF_domain:PIRSF000189,hmmpanther:PTHR11530,hmmpanther:PTHR11530:SF5,Superfamily_domains:SSF51971	D-amino-acid oxidase				ENSP00000228476		11-Jul									COSM1945986	11-Jul	.		ENST00000228476	Transcript	1		glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	ENSG00000110887	g.chr12:109288048G>A	2671			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=OXDA_HUMAN&rb=2&re=329&var=E173K	getma.org/pdb.php?prot=OXDA_HUMAN&from=2&to=329&var=E173K	getma.org/?cm=var&var=hg19,12,109288048,G,A&fts=all	E173K	--	--	1																																		DAO_uc001tnq.3_Missense_Mutation_p.E107K|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA	1	1		benign(0.003)	p.E173K	NM_001917	NP_001908		tolerated(0.82)	1	OXDA_HUMAN	DAO	HGNC	P14920	OXDA_HUMAN			Q7Z312_HUMAN,F8W152_HUMAN,F8VV35_HUMAN		7	670	+			UPI0000130F5F	173					SNV	DAO,missense_variant,p.Glu173Lys,ENST00000228476,NM_001917.4;DAO,missense_variant,p.Glu107Lys,ENST00000551281,;DAO,missense_variant,p.Glu50Lys,ENST00000547768,;DAO,missense_variant,p.Glu173Lys,ENST00000547166,;DAO,3_prime_UTR_variant,,ENST00000549215,;DAO,3_prime_UTR_variant,,ENST00000547122,;DAO,upstream_gene_variant,,ENST00000546552,;	uc001tnr.3	c.517G>A	721/1756	2	2			c.517G>A						12	SNP	c.(517-519)GAA>AAA	29	29			ovary(1)|skin(1)	2	Broad	D-amino-acid oxidase			109288048		0.582	ENSG00000110887	4156	g.chr12:109288048G>A	glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity							38.862736	KEEP	5	8	-1	10	16	5	8	-1	39.584427	10	16	0.351351	1	0	0	0	0	1	0	0	0	--	--		0	A			DAO_uc001tnq.3_Missense_Mutation_p.E107K|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA	13	GBM-06-0126-TP	p.E173K	G	GGTGGCAAGAGAAGGCGCAGA	NM_001917	NP_001908	109288048	P14920	OXDA_HUMAN	0			7	670	+	A	A			Missense_Mutation	173						
DAO	1610	broad.mit.edu	GRCh37	12	109293195	109293195	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000228476.3:c.856C>T	p.Arg286Cys	p.R286C	ENST00000228476	NM_001917.4	286	Cgc/Tgc	0			1			T	R/C	uc001tnr.3	protein_coding	YES	CCDS9122.1			856/1044									ovary(1)|skin(1)	2	c.(856-858)CGC>TGC			Pfam_domain:PF01266,PIRSF_domain:PIRSF000189,hmmpanther:PTHR11530,hmmpanther:PTHR11530:SF5,Superfamily_domains:SSF51971,Superfamily_domains:SSF54373	D-amino-acid oxidase				ENSP00000228476		11-Oct	1.65E-05		9.32E-05	0.000121					rs768403852,COSM1202986	11-Oct	.		ENST00000228476	Transcript	1		glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	ENSG00000110887	g.chr12:109293195C>T	2671			MODERATE		3.915	high	getma.org/?cm=msa&ty=f&p=OXDA_HUMAN&rb=2&re=329&var=R286C	getma.org/pdb.php?prot=OXDA_HUMAN&from=2&to=329&var=R286C	getma.org/?cm=var&var=hg19,12,109293195,C,T&fts=all	R286C	--	--	1																																		DAO_uc001tnq.3_Missense_Mutation_p.R220C|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA	0,1	1		probably_damaging(0.998)	p.R286C	NM_001917	NP_001908		deleterious(0)	0,1	OXDA_HUMAN	DAO	HGNC	P14920	OXDA_HUMAN			Q7Z312_HUMAN,F8W152_HUMAN,F8VV35_HUMAN		10	1009	+			UPI0000130F5F	286					SNV	DAO,missense_variant,p.Arg286Cys,ENST00000228476,NM_001917.4;DAO,missense_variant,p.Arg220Cys,ENST00000551281,;DAO,missense_variant,p.Arg163Cys,ENST00000547768,;DAO,3_prime_UTR_variant,,ENST00000549215,;DAO,3_prime_UTR_variant,,ENST00000547122,;DAO,non_coding_transcript_exon_variant,,ENST00000546552,;	uc001tnr.3	c.856C>T	1060/1756	1	1			c.856C>T						12	SNP	c.(856-858)CGC>TGC	3	3			ovary(1)|skin(1)	2	Broad	D-amino-acid oxidase			109293195		0.468	ENSG00000110887	4156	g.chr12:109293195C>T	glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity							50.079636	KEEP	16	8	-1	8	14	16	8	-1	50.130779	8	14	0.459459	1	0	0	0	0	1	0	0	0	--	--		0	T			DAO_uc001tnq.3_Missense_Mutation_p.R220C|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA	18	GBM-06-0137-TP	p.R286C	C	CCGGCCAGTACGCCCCCAGAT	NM_001917	NP_001908	109293195	P14920	OXDA_HUMAN	0			10	1009	+	T	T			Missense_Mutation	286						
DAO	1610	broad.mit.edu	GRCh37	12	109278787	109278787	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs142698254		TCGA-06-0221-01	TCGA-06-0221-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000228476.3:c.5G>A	p.Arg2His	p.R2H	ENST00000228476	NM_001917.4	2	cGt/cAt	0	A:0.0002	A:0	1	A:0		A	R/H	uc001tnr.3	protein_coding	YES	CCDS9122.1			5/1044									ovary(1)|skin(1)	2	c.(4-6)CGT>CAT			Gene3D:3.50.50.60,PIRSF_domain:PIRSF000189,hmmpanther:PTHR11530,hmmpanther:PTHR11530:SF5,Superfamily_domains:SSF51971	D-amino-acid oxidase		A:0	A:0.0002	ENSP00000228476	A:0	11-Feb	9.88E-05	0.000577	0.000259			4.50E-05			rs142698254,COSM3398311	11-Feb	common_variant		ENST00000228476	Transcript	1	A:0.0000	glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	ENSG00000110887	g.chr12:109278787G>A	2671			MODERATE		1.925	medium	getma.org/?cm=msa&ty=f&p=OXDA_HUMAN&rb=2&re=329&var=R2H	getma.org/pdb.php?prot=OXDA_HUMAN&from=2&to=329&var=R2H	getma.org/?cm=var&var=hg19,12,109278787,G,A&fts=all	R2H	--	--	1																																		DAO_uc001tnq.3_Missense_Mutation_p.R2H|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA	0,1	1		benign(0.011)	p.R2H	NM_001917	NP_001908	A:0	tolerated(0.05)	0,1	OXDA_HUMAN	DAO	HGNC	P14920	OXDA_HUMAN			Q7Z312_HUMAN,F8W152_HUMAN,F8VV35_HUMAN		2	158	+			UPI0000130F5F	2					SNV	DAO,missense_variant,p.Arg2His,ENST00000228476,NM_001917.4;DAO,missense_variant,p.Arg2His,ENST00000551281,;DAO,missense_variant,p.Arg2His,ENST00000547166,;DAO,intron_variant,,ENST00000547768,;DAO,downstream_gene_variant,,ENST00000548052,;DAO,missense_variant,p.Arg2His,ENST00000549215,;DAO,missense_variant,p.Arg2His,ENST00000547122,;	uc001tnr.3	c.5G>A	209/1756	2	2			c.5G>A						12	SNP	c.(4-6)CGT>CAT	18	18			ovary(1)|skin(1)	2	Broad	D-amino-acid oxidase			109278787		0.498	ENSG00000110887	4156	g.chr12:109278787G>A	glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity							4.024147	KEEP	6	3	-1	53	53	6	3	-1	19.674995	53	53	0.094737	1	0	0	0	0	1	0	0	0	--	--		0	A			DAO_uc001tnq.3_Missense_Mutation_p.R2H|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA	53	GBM-06-0221-TP	p.R2H	G	GCTGCAATGCGTGTGGTGGTG	NM_001917	NP_001908	109278787	P14920	OXDA_HUMAN	0			2	158	+	A	A			Missense_Mutation	2						
DAO	0	broad.mit.edu	GRCh37	12	109293186	109293186	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140015394		TCGA-27-1831-01	TCGA-27-1831-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000228476.3:c.847C>T	p.Arg283Trp	p.R283W	ENST00000228476	NM_001917.4	283	Cgg/Tgg	0	T:0		1			T	R/W	uc001tnr.3	protein_coding	YES	CCDS9122.1			847/1044									ovary(1)|skin(1)	2	c.(847-849)CGG>TGG			Gene3D:3.30.9.10,Pfam_domain:PF01266,PIRSF_domain:PIRSF000189,hmmpanther:PTHR11530,hmmpanther:PTHR11530:SF5,Superfamily_domains:SSF51971,Superfamily_domains:SSF54373	D-amino-acid oxidase			T:0.0001	ENSP00000228476		11-Oct									rs140015394,COSM2154560	11-Oct	.		ENST00000228476	Transcript	1		glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	ENSG00000110887	g.chr12:109293186C>T	2671			MODERATE		3.92	high	getma.org/?cm=msa&ty=f&p=OXDA_HUMAN&rb=2&re=329&var=R283W	getma.org/pdb.php?prot=OXDA_HUMAN&from=2&to=329&var=R283W	getma.org/?cm=var&var=hg19,12,109293186,C,T&fts=all	R283W	--	--	1																																		DAO_uc001tnq.3_Missense_Mutation_p.R217W|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA	0,1	1		probably_damaging(0.999)	p.R283W	NM_001917	NP_001908		deleterious(0)	0,1	OXDA_HUMAN	DAO	HGNC	P14920	OXDA_HUMAN			Q7Z312_HUMAN,F8W152_HUMAN,F8VV35_HUMAN		10	1000	+			UPI0000130F5F	283				Substrate.	SNV	DAO,missense_variant,p.Arg283Trp,ENST00000228476,NM_001917.4;DAO,missense_variant,p.Arg217Trp,ENST00000551281,;DAO,missense_variant,p.Arg160Trp,ENST00000547768,;DAO,3_prime_UTR_variant,,ENST00000549215,;DAO,3_prime_UTR_variant,,ENST00000547122,;DAO,non_coding_transcript_exon_variant,,ENST00000546552,;	uc001tnr.3	c.847C>T	1051/1756	1	1			c.847C>T						12	SNP	c.(847-849)CGG>TGG	9	9			ovary(1)|skin(1)	2	Broad	D-amino-acid oxidase			109293186		0.458	ENSG00000110887	4156	g.chr12:109293186C>T	glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity							29.808743	KEEP	6	9	-1	15	28	6	9	-1	31.63173	15	28	0.275	1	0	0	0	0	1	0	0	0	--	--		0	T			DAO_uc001tnq.3_Missense_Mutation_p.R217W|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA	190	GBM-27-1831-TP	p.R283W	C	AACTGGCTTCCGGCCAGTACG	NM_001917	NP_001908	109293186	P14920	OXDA_HUMAN	0			10	1000	+	T	T			Missense_Mutation	283				Substrate.		
DAPK1	0	broad.mit.edu	GRCh37	9	90266587	90266587	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs36214022		TCGA-32-4209-01	TCGA-32-4209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358077.5:c.1772C>T	p.Pro591Leu	p.P591L	ENST00000358077	NM_001288731.1	591	cCt/cTt	0			1			T	P/L	uc004apc.2	protein_coding		CCDS43842.1			1772/4293									ovary(1)|breast(1)	2	c.(1771-1773)CCT>CTT			Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR22964,hmmpanther:PTHR22964:SF54,SMART_domains:SM00248,Superfamily_domains:SSF48403	death-associated protein kinase 1				ENSP00000350785		17/26									rs36214022,COSM3413798,COSM3413796,COSM3413797	17/26	.	Chronic_Lymphocytic_Leukemia_Familial_Clustering_of	ENST00000358077	Transcript			apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	ENSG00000196730	g.chr9:90266587C>T	2674			MODERATE		0.615	neutral	getma.org/?cm=msa&ty=f&p=DAPK1_HUMAN&rb=576&re=608&var=P591L	NA	getma.org/?cm=var&var=hg19,9,90266587,C,T&fts=all	P591L	--	--	1																																		DAPK1_uc004apd.2_Missense_Mutation_p.P591L|DAPK1_uc011ltg.1_Missense_Mutation_p.P591L|DAPK1_uc011lth.1_Missense_Mutation_p.P328L|DAPK1_uc004apf.1_Missense_Mutation_p.P145L	0,1,1,1			benign(0.438)	p.P591L	NM_004938	NP_004929		deleterious(0.02)	0,1,1,1	DAPK1_HUMAN	DAPK1	HGNC	P53355	DAPK1_HUMAN					17	1910	+			UPI0000210C2F	591		P -> L.	ANK 7.		SNV	DAPK1,missense_variant,p.Pro591Leu,ENST00000469640,;DAPK1,missense_variant,p.Pro591Leu,ENST00000408954,NM_004938.2;DAPK1,missense_variant,p.Pro591Leu,ENST00000472284,NM_001288729.1,NM_001288730.1;DAPK1,missense_variant,p.Pro591Leu,ENST00000358077,NM_001288731.1;DAPK1,missense_variant,p.Pro591Leu,ENST00000491893,;DAPK1,non_coding_transcript_exon_variant,,ENST00000494010,;DAPK1,downstream_gene_variant,,ENST00000495281,;DAPK1,3_prime_UTR_variant,,ENST00000489291,;DAPK1,downstream_gene_variant,,ENST00000469067,;DAPK1,downstream_gene_variant,,ENST00000475804,;	uc004apc.2	c.1772C>T	1955/5743	1	1			c.1772C>T						9	SNP	c.(1771-1773)CCT>CTT	5	5			ovary(1)|breast(1)	2	Broad	death-associated protein kinase 1			90266587	Chronic_Lymphocytic_Leukemia_Familial_Clustering_of	0.498	ENSG00000196730	4160	g.chr9:90266587C>T	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			862			862	-13.956625	KEEP	4	0	-1	47	50	4	0	-1	6.85157	47	50	0.034091	1	0	0	0	0	1	0	0	0	--	--		0	T			DAPK1_uc004apd.2_Missense_Mutation_p.P591L|DAPK1_uc011ltg.1_Missense_Mutation_p.P591L|DAPK1_uc011lth.1_Missense_Mutation_p.P328L|DAPK1_uc004apf.1_Missense_Mutation_p.P145L	244	GBM-32-4209-TP	p.P591L	C	GGCAACATGCCTATCGTGGTG	NM_004938	NP_004929	90266587	P53355	DAPK1_HUMAN	0			17	1910	+	T	T			Missense_Mutation	591		P -> L.	ANK 7.			
DAPK3	0	broad.mit.edu	GRCh37	19	3961153	3961153	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0821-01	TCGA-12-0821-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301264.3:c.636C>T	p.Ser212=	p.S212=	ENST00000301264	NM_001348.1	212	agC/agT	0	A:0		1			A	S	uc002lzc.1	protein_coding		CCDS12116.1			636/1365									central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1)	7	c.(634-636)AGC>AGT			PROSITE_profiles:PS50011,hmmpanther:PTHR22964,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	death-associated protein kinase 3			A:0.0003	ENSP00000301264		8-Jun	7.42E-05					0.000128		6.29E-05	rs370261717,COSM3404211	8-Jun	.		ENST00000301264	Transcript			apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity	ENSG00000167657	g.chr19:3961153G>A	2676			LOW								--	--	1																																		DAPK3_uc002lzb.1_5'UTR|DAPK3_uc002lzd.1_Silent_p.S212S	0,1				p.S212S	NM_001348	NP_001339			0,1	DAPK3_HUMAN	DAPK3	HGNC	O43293	DAPK3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	M0R0D0_HUMAN,M0QYW5_HUMAN		6	729	-		Hepatocellular(1079;0.137)	UPI000006F7FA	212			Protein kinase.		SNV	DAPK3,synonymous_variant,p.=,ENST00000545797,;DAPK3,synonymous_variant,p.=,ENST00000301264,NM_001348.1;DAPK3,synonymous_variant,p.=,ENST00000594894,;DAPK3,downstream_gene_variant,,ENST00000596311,;DAPK3,downstream_gene_variant,,ENST00000593844,;DAPK3,downstream_gene_variant,,ENST00000601824,;MIR637,downstream_gene_variant,,ENST00000385000,;DAPK3,non_coding_transcript_exon_variant,,ENST00000595279,;	uc002lzc.1	c.636C>T	729/2105	2	2			c.636C>T						19	SNP	c.(634-636)AGC>AGT	32	32			central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1)	7	Broad	death-associated protein kinase 3			3961153		0.662	ENSG00000167657	4162	g.chr19:3961153G>A	apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			392			392	-11.498719	KEEP	4	1	-1	77	12	4	1	-1	7.020298	77	12	0.047059	1	0	0	0	0	0	0	1	0	--	--		0	A			DAPK3_uc002lzb.1_5'UTR|DAPK3_uc002lzd.1_Silent_p.S212S	123	GBM-12-0821-TP	p.S212S	G	GGGATGCACCGCTCAGGCTGC	NM_001348	NP_001339	3961153	O43293	DAPK3_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	6	729	-	A	A		Hepatocellular(1079;0.137)	Silent	212			Protein kinase.			
DAPK3	0	broad.mit.edu	GRCh37	19	3959627	3959627	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-1450-01	TCGA-14-1450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301264.3:c.837G>A	p.Arg279=	p.R279=	ENST00000301264	NM_001348.1	279	cgG/cgA	0			1			T	R	uc002lzc.1	protein_coding		CCDS12116.1			837/1365									central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1)	7	c.(835-837)CGG>CGA			hmmpanther:PTHR22964,Gene3D:1.10.510.10,Superfamily_domains:SSF56112	death-associated protein kinase 3				ENSP00000301264		8-Aug									COSM3404209	8-Aug	.		ENST00000301264	Transcript			apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity	ENSG00000167657	g.chr19:3959627C>T	2676			LOW								--	--	1																																		DAPK3_uc002lzb.1_Silent_p.R16R|DAPK3_uc002lzd.1_Silent_p.R279R	1				p.R279R	NM_001348	NP_001339			1	DAPK3_HUMAN	DAPK3	HGNC	O43293	DAPK3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	M0R0D0_HUMAN,M0QYW5_HUMAN		8	930	-		Hepatocellular(1079;0.137)	UPI000006F7FA	279					SNV	DAPK3,synonymous_variant,p.=,ENST00000545797,;DAPK3,synonymous_variant,p.=,ENST00000301264,NM_001348.1;DAPK3,downstream_gene_variant,,ENST00000596311,;DAPK3,downstream_gene_variant,,ENST00000594894,;DAPK3,downstream_gene_variant,,ENST00000601824,;MIR637,downstream_gene_variant,,ENST00000385000,;DAPK3,non_coding_transcript_exon_variant,,ENST00000595279,;	uc002lzc.1	c.837G>A	930/2105	2	2			c.837G>A						19	SNP	c.(835-837)CGG>CGA	31	31			central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1)	7	Broad	death-associated protein kinase 3			3959627		0.687	ENSG00000167657	4162	g.chr19:3959627C>T	apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			392			392	27.710767	KEEP	5	6	-1	14	13	5	6	-1	28.402921	14	13	0.34375	1	0	0	0	0	0	0	1	0	--	--		0	T			DAPK3_uc002lzb.1_Silent_p.R16R|DAPK3_uc002lzd.1_Silent_p.R279R	145	GBM-14-1450-TP	p.R279R	C	CGTTCCGCCGCCGGATCGCCT	NM_001348	NP_001339	3959627	O43293	DAPK3_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	8	930	-	T	T		Hepatocellular(1079;0.137)	Silent	279						
DARC	0	broad.mit.edu	GRCh37	1	159175495	159175495	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01	TCGA-28-2509-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368122.2:c.266G>A	p.Arg89His	p.R89H	ENST00000368122	NM_002036.3	89	cGc/cAc	0	A:0		1			A	R/H	uc001fto.2	protein_coding		CCDS1183.1			266/1011									ovary(1)|lung(1)	2	c.(265-267)CGC>CAC			hmmpanther:PTHR14181	Duffy blood group antigen isoform b			A:0.0002	ENSP00000357104		2-Feb	9.88E-05					0.00015		0.000121	rs371909350,COSM3399870,COSM1203008	2-Feb	.		ENST00000368122	Transcript	1		defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	ENSG00000213088	g.chr1:159175495G>A	4035			MODERATE		-0.77	neutral	getma.org/?cm=msa&ty=f&p=DUFFY_HUMAN&rb=45&re=334&var=R89H	NA	getma.org/?cm=var&var=hg19,1,159175495,G,A&fts=all	R89H	--	--	1																																		DARC_uc001ftp.3_Missense_Mutation_p.R91H	0,1,1			benign(0.001)	p.R89H	NM_002036	NP_002027		tolerated(1)	0,1,1	ACKR1_HUMAN	DARC	HGNC	Q16570	DUFFY_HUMAN			Q5Y7A2_HUMAN		2	506	+	all_hematologic(112;0.0429)		UPI000016A110	89			Cytoplasmic (Potential).		SNV	DARC,missense_variant,p.Arg89His,ENST00000537147,;DARC,missense_variant,p.Arg89His,ENST00000368122,NM_002036.3;DARC,missense_variant,p.Arg91His,ENST00000368121,NM_001122951.2;DARC,missense_variant,p.Arg91His,ENST00000435307,;CADM3,downstream_gene_variant,,ENST00000368125,NM_001127173.1;CADM3,downstream_gene_variant,,ENST00000368124,NM_021189.3;CTA-134P22.2,intron_variant,,ENST00000609696,;CTA-134P22.2,upstream_gene_variant,,ENST00000415675,;CADM3,downstream_gene_variant,,ENST00000497636,;	uc001fto.2	c.266G>A	945/1740	1	1			c.266G>A						1	SNP	c.(265-267)CGC>CAC	52	52			ovary(1)|lung(1)	2	Broad	Duffy blood group antigen isoform b			159175495		0.602	ENSG00000213088	4165	g.chr1:159175495G>A	defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity							432.116347	KEEP	125	106	-1	110	91	125	106	-1	432.117136	110	91	0.498208	1	0	0	0	0	1	0	0	0	--	--		0	A			DARC_uc001ftp.3_Missense_Mutation_p.R91H	211	GBM-28-2509-TP	p.R89H	G	CCTCTCTTCCGCTGGCAGCTC	NM_002036	NP_002027	159175495	Q16570	DUFFY_HUMAN	0			2	506	+	A	A	all_hematologic(112;0.0429)		Missense_Mutation	89			Cytoplasmic (Potential).			
DARS	1615		GRCh37	2	136682064	136682074	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	GATGTCTAGAA	GATGTCTAGAA	-			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000264161.4:c.565-6_569del		p.X189_splice	ENST00000264161	NM_001349.2	189		0																																																																																																																																																																																																																																												
DAXX	1616	broad.mit.edu	GRCh37	6	33287338	33287338	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0238-01	TCGA-06-0238-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374542.5:c.1759T>C	p.Ser587Pro	p.S587P	ENST00000374542	NM_001141970.1	587	Tcc/Ccc	0			1			G	S/P	uc003oec.2	protein_coding		CCDS4776.1			1759/2223	Mis|F|N				Pancreatic neuroendocrine tumors				pancreas(18)|ovary(2)|skin(2)|prostate(1)	23	c.(1759-1761)TCC>CCC			Pfam_domain:PF03344,hmmpanther:PTHR12766,hmmpanther:PTHR12766:SF6	death-domain associated protein isoform a				ENSP00000266000		8-Jun									COSM2151099	8-Jun	.		ENST00000266000	Transcript			activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	ENSG00000204209	g.chr6:33287338A>G	2681			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=DAXX_HUMAN&rb=1&re=740&var=S587P	NA	getma.org/?cm=var&var=hg19,6,33287338,A,G&fts=all	S587P	--	--	1																																		ZBTB22_uc003oeb.2_5'Flank|ZBTB22_uc010juu.2_5'Flank|DAXX_uc011drd.1_Missense_Mutation_p.S512P|DAXX_uc011dre.1_Missense_Mutation_p.S599P|DAXX_uc003oed.2_Missense_Mutation_p.S587P	1			probably_damaging(0.992)	p.S587P	NM_001350	NP_001341		tolerated(0.11)	1	DAXX_HUMAN	DAXX	HGNC	Q9UER7	DAXX_HUMAN			Q5STR5_HUMAN,Q4VX54_HUMAN,A2AB94_HUMAN		6	1963	-			UPI0000128ED8	587			Interaction with MAP3K5.		SNV	DAXX,missense_variant,p.Ser587Pro,ENST00000374542,NM_001141970.1,NM_001350.4,NM_001141969.1;DAXX,missense_variant,p.Ser587Pro,ENST00000266000,;DAXX,missense_variant,p.Ser512Pro,ENST00000414083,NM_001254717.1;ZBTB22,upstream_gene_variant,,ENST00000431845,NM_005453.4;ZBTB22,upstream_gene_variant,,ENST00000418724,NM_001145338.1;DAXX,downstream_gene_variant,,ENST00000453407,;DAXX,downstream_gene_variant,,ENST00000446403,;ZBTB22,upstream_gene_variant,,ENST00000441117,;DAXX,downstream_gene_variant,,ENST00000446511,;DAXX,non_coding_transcript_exon_variant,,ENST00000468536,;DAXX,downstream_gene_variant,,ENST00000477162,;DAXX,downstream_gene_variant,,ENST00000477370,;DAXX,downstream_gene_variant,,ENST00000494082,;DAXX,downstream_gene_variant,,ENST00000490173,;DAXX,downstream_gene_variant,,ENST00000498030,;	uc003oec.2	c.1759T>C	1957/2606	4	4			c.1759T>C	Mis|F|N				Pancreatic neuroendocrine tumors	6	SNP	c.(1759-1761)TCC>CCC	18	18			pancreas(18)|ovary(2)|skin(2)|prostate(1)	23	Broad	death-domain associated protein isoform a			33287338		0.527	ENSG00000204209	4168	g.chr6:33287338A>G	activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			125			125	237.318988	KEEP	42	34	-1	42	51	42	34	-1	237.93541	42	51	0.432258	1	0	0	0	0	1	0	0	0	--	--		0	G			ZBTB22_uc003oeb.2_5'Flank|ZBTB22_uc010juu.2_5'Flank|DAXX_uc011drd.1_Missense_Mutation_p.S512P|DAXX_uc011dre.1_Missense_Mutation_p.S599P|DAXX_uc003oed.2_Missense_Mutation_p.S587P	55	GBM-06-0238-TP	p.S587P	A	CTGGAAGAGGAAATGTCCGTC	NM_001350	NP_001341	33287338	Q9UER7	DAXX_HUMAN	0			6	1963	-	G	G			Missense_Mutation	587			Interaction with MAP3K5.			
DAXX	0	broad.mit.edu	GRCh37	6	33289539	33289539	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01	TCGA-14-0740-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266000.6:c.164G>A	p.Gly55Asp	p.G55D	ENST00000266000		55	gGc/gAc	0			1			T	G/D	uc003oec.2	protein_coding		CCDS4776.1			164/2223	Mis|F|N				Pancreatic neuroendocrine tumors				pancreas(18)|ovary(2)|skin(2)|prostate(1)	23	c.(163-165)GGC>GAC			Low_complexity_(Seg):seg,Pfam_domain:PF03344,hmmpanther:PTHR12766,hmmpanther:PTHR12766:SF6	death-domain associated protein isoform a				ENSP00000266000		8-Feb									COSM3411008	8-Feb	.		ENST00000266000	Transcript			activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	ENSG00000204209	g.chr6:33289539C>T	2681			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=DAXX_HUMAN&rb=1&re=740&var=G55D	getma.org/pdb.php?prot=DAXX_HUMAN&from=1&to=740&var=G55D	getma.org/?cm=var&var=hg19,6,33289539,C,T&fts=all	G55D	--	--	1																																		DAXX_uc011drd.1_Intron|DAXX_uc011dre.1_Missense_Mutation_p.G67D|DAXX_uc003oed.2_Missense_Mutation_p.G55D|DAXX_uc010juw.2_5'UTR	1			probably_damaging(0.932)	p.G55D	NM_001350	NP_001341		tolerated(0.32)	1	DAXX_HUMAN	DAXX	HGNC	Q9UER7	DAXX_HUMAN			Q5STR5_HUMAN,Q4VX54_HUMAN,A2AB94_HUMAN		2	368	-			UPI0000128ED8	55			Necessary for interaction with USP7.		SNV	DAXX,missense_variant,p.Gly55Asp,ENST00000374542,NM_001141970.1,NM_001350.4,NM_001141969.1;DAXX,missense_variant,p.Gly55Asp,ENST00000266000,;DAXX,missense_variant,p.Gly55Asp,ENST00000453407,;DAXX,missense_variant,p.Gly55Asp,ENST00000446403,;DAXX,intron_variant,,ENST00000414083,NM_001254717.1;ZBTB22,upstream_gene_variant,,ENST00000431845,NM_005453.4;ZBTB22,upstream_gene_variant,,ENST00000418724,NM_001145338.1;ZBTB22,upstream_gene_variant,,ENST00000441117,;DAXX,downstream_gene_variant,,ENST00000446511,;DAXX,non_coding_transcript_exon_variant,,ENST00000477162,;DAXX,intron_variant,,ENST00000468536,;DAXX,intron_variant,,ENST00000477370,;DAXX,downstream_gene_variant,,ENST00000494082,;DAXX,non_coding_transcript_exon_variant,,ENST00000498030,;DAXX,upstream_gene_variant,,ENST00000490173,;	uc003oec.2	c.164G>A	362/2606	1	1			c.164G>A	Mis|F|N				Pancreatic neuroendocrine tumors	6	SNP	c.(163-165)GGC>GAC	14	14			pancreas(18)|ovary(2)|skin(2)|prostate(1)	23	Broad	death-domain associated protein isoform a			33289539		0.597	ENSG00000204209	4168	g.chr6:33289539C>T	activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			125			125	-117.851894	KEEP	2	5	-1	266	272	2	5	-1	6.715113	266	272	0.0131	1	0	0	0	0	1	0	0	0	--	--		0	T			DAXX_uc011drd.1_Intron|DAXX_uc011dre.1_Missense_Mutation_p.G67D|DAXX_uc003oed.2_Missense_Mutation_p.G55D|DAXX_uc010juw.2_5'UTR	132	GBM-14-0740-TP	p.G55D	C	GCATTTCTTGCCGCCCGAACT	NM_001350	NP_001341	33289539	Q9UER7	DAXX_HUMAN	0			2	368	-	T	T			Missense_Mutation	55			Necessary for interaction with USP7.			
DBF4	10926	broad.mit.edu	GRCh37	7	87525787	87525787	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T			TCGA-06-0195-01	TCGA-06-0195-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265728.1:c.598-2A>T		p.X200_splice	ENST00000265728	NM_006716.3	200		0			1			T		uc003ujf.1	protein_coding	YES	CCDS5611.1			598/2025									lung(2)	2	c.e7-2				activator of S phase kinase				ENSP00000265728											COSM3412447		.		ENST00000265728	Transcript			cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	ENSG00000006634	g.chr7:87525787A>T	17364			HIGH	11-Jun							--	--	1																																		DBF4_uc003ujh.1_Splice_Site|DBF4_uc003ujg.1_Splice_Site|DBF4_uc011khf.1_Splice_Site_p.G2_splice	1	1			p.G200_splice	NM_006716	NP_006707			1	DBF4A_HUMAN	DBF4	HGNC	Q9UBU7	DBF4A_HUMAN			B7Z8C6_HUMAN,B3KMY2_HUMAN		7	1102	+	Esophageal squamous(14;0.00202)	Breast(660;0.0334)	UPI000000DC33						SNV	DBF4,splice_acceptor_variant,,ENST00000265728,NM_006716.3;DBF4,splice_acceptor_variant,,ENST00000413643,;DBF4,splice_acceptor_variant,,ENST00000431138,;DBF4,splice_acceptor_variant,,ENST00000430279,;DBF4,splice_acceptor_variant,,ENST00000498144,;DBF4,non_coding_transcript_exon_variant,,ENST00000498726,;	uc003ujf.1	c.598_splice	-/3907	5	1			c.598_splice						7	SNP	c.e7-2	15	15			lung(2)	2	Broad	activator of S phase kinase			87525787		0.299	ENSG00000006634	4173	g.chr7:87525787A>T	cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			763			763	-13.176839	KEEP	2	3	-1	52	53	2	3	-1	8.2113	52	53	0.042105	1	0	0	0	0	0	0	0	1	--	--		0	T			DBF4_uc003ujh.1_Splice_Site|DBF4_uc003ujg.1_Splice_Site|DBF4_uc011khf.1_Splice_Site_p.G2_splice	45	GBM-06-0195-TP	p.G200_splice	A	ATTTTTTTTTAGGGCAAAAGA	NM_006716	NP_006707	87525787	Q9UBU7	DBF4A_HUMAN	0			7	1102	+	T	T	Esophageal squamous(14;0.00202)	Breast(660;0.0334)	Splice_Site							
DBF4B	0	broad.mit.edu	GRCh37	17	42828248	42828248	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5204-01	TCGA-28-5204-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315005.3:c.1475G>A	p.Gly492Asp	p.G492D	ENST00000315005	NM_145663.2	492	gGc/gAc	0		A:0	1	A:0		A	G/D	uc002ihf.2	protein_coding	YES	CCDS11485.1			1475/1848										0	c.(1474-1476)GGC>GAC			hmmpanther:PTHR15375,hmmpanther:PTHR15375:SF23	DBF4 homolog B isoform 1		A:0.001		ENSP00000323663	A:0	14/14	4.94E-05			0.000693					rs201641003,COSM3402936	14/14	common_variant		ENST00000315005	Transcript		A:0.0002	cell cycle	nucleus	nucleic acid binding|zinc ion binding	ENSG00000161692	g.chr17:42828248G>A	17883			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=DBF4B_HUMAN&rb=371&re=614&var=G492D	NA	getma.org/?cm=var&var=hg19,17,42828248,G,A&fts=all	G492D	1.59	low	1																																		DBF4B_uc010wjc.1_Intron	0,1	1		benign(0.066)	p.G492D	NM_145663	NP_663696	A:0	deleterious_low_confidence(0.01)	0,1	DBF4B_HUMAN	DBF4B	HGNC	Q8NFT6	DBF4B_HUMAN			B3KWT3_HUMAN		14	1688	+		Prostate(33;0.0322)	UPI00000473C7	492					SNV	DBF4B,missense_variant,p.Gly492Asp,ENST00000315005,NM_145663.2;DBF4B,intron_variant,,ENST00000393547,NM_025104.3;DBF4B,downstream_gene_variant,,ENST00000526924,;DBF4B,downstream_gene_variant,,ENST00000527862,;	uc002ihf.2	c.1475G>A	1613/2997	2	2			c.1475G>A						17	SNP	c.(1474-1476)GGC>GAC	45	45				0	Broad	DBF4 homolog B isoform 1			42828248		0.592	ENSG00000161692	4174	g.chr17:42828248G>A	cell cycle	nucleus	nucleic acid binding|zinc ion binding							250.420024	KEEP	60	50	-1	66	63	60	50	-1	251.286369	66	63	0.429952	1	0	0	0	0	1	0	0	0	1.59	low		0	A			DBF4B_uc010wjc.1_Intron	215	GBM-28-5204-TP	p.G492D	G	CCTGTTAAGGGCCCACTCCTC	NM_145663	NP_663696	42828248	Q8NFT6	DBF4B_HUMAN	0			14	1688	+	A	A		Prostate(33;0.0322)	Missense_Mutation	492						
DBH	1621	broad.mit.edu	GRCh37	9	136508597	136508597	+	synonymous_variant	Silent	SNP	C	C	T	rs141816448		TCGA-06-2567-01	TCGA-06-2567-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393056.2:c.807C>T	p.Cys269=	p.C269=	ENST00000393056	NM_000787.3	269	tgC/tgT	0	T:0.0002	T:0	1	T:0		T	C	uc004cel.2	protein_coding	YES	CCDS6977.2			807/1854									ovary(2)|central_nervous_system(2)	4	c.(805-807)TGC>TGT			hmmpanther:PTHR10157:SF4,hmmpanther:PTHR10157,PROSITE_patterns:PS00084,Pfam_domain:PF01082,Gene3D:1yi9A01,Superfamily_domains:SSF49742,Prints_domain:PR00767	dopamine beta hydroxylase precursor	Dopamine(DB00988)|Vitamin C(DB00126)	T:0	T:0.0003	ENSP00000376776	T:0.001	12-Apr	0.000527	0.000483	0.000432	0.000116		0.000664		0.000545	rs141816448,COSM204578	12-Apr	common_variant		ENST00000393056	Transcript	1	T:0.0006	hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	ENSG00000123454	g.chr9:136508597C>T	2689			LOW								--	--	1																																			0,1	1			p.C269C	NM_000787	NP_000778	T:0.002		0,1	DOPO_HUMAN	DBH	HGNC	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)			4	816	+			UPI0000E5D219	269			Intragranular (Potential).		SNV	DBH,synonymous_variant,p.=,ENST00000393056,NM_000787.3;DBH,synonymous_variant,p.=,ENST00000263611,;	uc004cel.2	c.807C>T	819/2763	1	1			c.807C>T						9	SNP	c.(805-807)TGC>TGT	3	3			ovary(2)|central_nervous_system(2)	4	Broad	dopamine beta hydroxylase precursor		Dopamine(DB00988)|Vitamin C(DB00126)	136508597		0.662	ENSG00000123454	4175	g.chr9:136508597C>T	hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding							93.611856	KEEP	12	25	-1	42	44	12	25	-1	96.831068	42	44	0.318182	1	0	0	0	0	0	0	1	0	--	--		0	T				89	GBM-06-2567-TP	p.C269C	C	TCTTCCAGTGCGCCCCCGAGA	NM_000787	NP_000778	136508597	P09172	DOPO_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	4	816	+	T	T			Silent	269			Intragranular (Potential).			
DBH	0	broad.mit.edu	GRCh37	9	136507481	136507481	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0789-01	TCGA-14-0789-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393056.2:c.639C>T	p.Thr213=	p.T213=	ENST00000393056	NM_000787.3	213	acC/acT	0			1			T	T	uc004cel.2	protein_coding	YES	CCDS6977.2			639/1854									ovary(2)|central_nervous_system(2)	4	c.(637-639)ACC>ACT			hmmpanther:PTHR10157:SF4,hmmpanther:PTHR10157,Pfam_domain:PF01082,Gene3D:1yi9A01,Superfamily_domains:SSF49742	dopamine beta hydroxylase precursor	Dopamine(DB00988)|Vitamin C(DB00126)			ENSP00000376776		12-Mar									COSM3413424	12-Mar	.		ENST00000393056	Transcript	1		hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	ENSG00000123454	g.chr9:136507481C>T	2689			LOW								--	--	1																																			1	1			p.T213T	NM_000787	NP_000778			1	DOPO_HUMAN	DBH	HGNC	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)			3	648	+			UPI0000E5D219	213			Intragranular (Potential).		SNV	DBH,synonymous_variant,p.=,ENST00000393056,NM_000787.3;DBH,synonymous_variant,p.=,ENST00000263611,;	uc004cel.2	c.639C>T	651/2763	2	2			c.639C>T						9	SNP	c.(637-639)ACC>ACT	26	26			ovary(2)|central_nervous_system(2)	4	Broad	dopamine beta hydroxylase precursor		Dopamine(DB00988)|Vitamin C(DB00126)	136507481		0.592	ENSG00000123454	4175	g.chr9:136507481C>T	hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding							49.361275	KEEP	9	12	-1	33	30	9	12	-1	53.053462	33	30	0.266667	1	0	0	0	0	0	0	1	0	--	--		0	T				136	GBM-14-0789-TP	p.T213T	C	ACGCGTGCACCATGGAGGTCC	NM_000787	NP_000778	136507481	P09172	DOPO_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	3	648	+	T	T			Silent	213			Intragranular (Potential).			
DBR1	0	broad.mit.edu	GRCh37	3	137880741	137880743	+	inframe_deletion	In_Frame_Del	DEL	TCG	TCG	-	rs150114751;rs2622736	byFrequency;by1000genomes	TCGA-16-0861-01	TCGA-16-0861-01	TCG	TCG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260803.4:c.1623_1625delCGA	p.Asp542del	p.D542del	ENST00000260803	NM_016216.3	541	gaCGAt/gat	0			1			-	DD/D	uc003erv.2	protein_coding	YES	CCDS33863.1			1623-1625/1635										0	c.(1621-1626)GATGAT>GAT			Low_complexity_(Seg):seg,hmmpanther:PTHR12849	debranching enzyme homolog 1				ENSP00000260803		8-Aug	0.0086	0.00271	0.00392	0.00537	0.0029	0.00622	0.00899	0.0115	rs376362448,COSM1723934	8-Aug	common_variant		ENST00000260803	Transcript				nucleus	metal ion binding|RNA lariat debranching enzyme activity	ENSG00000138231	g.chr3:137880741_137880743delTCG	15594			MODERATE								--	--	1																																		DBR1_uc003eru.2_In_Frame_Del_p.490_491DD>D|DBR1_uc003ert.2_In_Frame_Del_p.309_310DD>D	0,1	1			p.541_542DD>D	NM_016216	NP_057300			0,1	DBR1_HUMAN	DBR1	HGNC	Q9UK59	DBR1_HUMAN			F5GWV2_HUMAN		8	1759_1761	-			UPI000006DFC5	541_542					deletion	DBR1,inframe_deletion,p.Asp542del,ENST00000260803,NM_016216.3;DBR1,inframe_deletion,p.Asp308del,ENST00000505015,;DBR1,downstream_gene_variant,,ENST00000477557,;DBR1,downstream_gene_variant,,ENST00000460271,;	uc003erv.2	c.1623_1625delCGA	1777-1779/2666	5	5			c.1623_1625delCGA						3	DEL	c.(1621-1626)GATGAT>GAT	25	25				0	Broad	debranching enzyme homolog 1			137880743		0.251	ENSG00000138231	4182	g.chr3:137880741_137880743delTCG		nucleus	metal ion binding|RNA lariat debranching enzyme activity																				0.06	1	1	0	1	0	0	0	0	0	--	--		0	-			DBR1_uc003eru.2_In_Frame_Del_p.490_491DD>D|DBR1_uc003ert.2_In_Frame_Del_p.309_310DD>D	156	GBM-16-0861-TP	p.541_542DD>D	TCG	TTAAGCTGCATCGTCATCATCAT	NM_016216	NP_057300	137880741	Q9UK59	DBR1_HUMAN	0			8	1759_1761	-	-	-			In_Frame_Del	541_542						
DBR1	0	broad.mit.edu	GRCh37	3	137890532	137890532	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5955-01	TCGA-19-5955-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260803.4:c.346C>T	p.Arg116Ter	p.R116*	ENST00000260803	NM_016216.3	116	Cga/Tga	0			1			A	R/*	uc003erv.2	protein_coding	YES	CCDS33863.1			346/1635										0	c.(346-348)CGA>TGA			hmmpanther:PTHR12849,Pfam_domain:PF00149,Gene3D:3.60.21.10,Superfamily_domains:SSF56300	debranching enzyme homolog 1				ENSP00000260803		8-Mar	8.24E-06					1.50E-05			rs772970047,COSM3408274	8-Mar	.		ENST00000260803	Transcript				nucleus	metal ion binding|RNA lariat debranching enzyme activity	ENSG00000138231	g.chr3:137890532G>A	15594			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,3,137890532,G,A&fts=all	R116*	--	--	1																																		DBR1_uc003eru.2_Nonsense_Mutation_p.R65*	0,1	1			p.R116*	NM_016216	NP_057300			0,1	DBR1_HUMAN	DBR1	HGNC	Q9UK59	DBR1_HUMAN			F5GWV2_HUMAN		3	482	-			UPI000006DFC5	116					SNV	DBR1,stop_gained,p.Arg116Ter,ENST00000260803,NM_016216.3;DBR1,5_prime_UTR_variant,,ENST00000505015,;DBR1,non_coding_transcript_exon_variant,,ENST00000463982,;DBR1,intron_variant,,ENST00000477557,;	uc003erv.2	c.346C>T	500/2666	5	1			c.346C>T						3	SNP	c.(346-348)CGA>TGA	55	55				0	Broad	debranching enzyme homolog 1			137890532		0.343	ENSG00000138231	4182	g.chr3:137890532G>A		nucleus	metal ion binding|RNA lariat debranching enzyme activity							-15.458484	KEEP	2	1	-1	41	72	2	1	-1	6.778222	41	72	0.032258	1	0	0	0	0	0	1	0	0	--	--		0	A			DBR1_uc003eru.2_Nonsense_Mutation_p.R65*	175	GBM-19-5955-TP	p.R116*	G	CTTACACCTCGGTATTTTACC	NM_016216	NP_057300	137890532	Q9UK59	DBR1_HUMAN	0			3	482	-	A	A			Nonsense_Mutation	116						
DBR1	0	broad.mit.edu	GRCh37	3	137880744	137880746	+	inframe_deletion	In_Frame_Del	DEL	TCA	TCA	-			TCGA-28-2509-01	TCGA-28-2509-01	TCA	TCA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260803.4:c.1620_1622delTGA	p.Asp542del	p.D542del	ENST00000260803	NM_016216.3	540	gaTGAc/gac	0			1			-	DD/D	uc003erv.2	protein_coding	YES	CCDS33863.1			1620-1622/1635										0	c.(1618-1623)GATGAT>GAT			Low_complexity_(Seg):seg,hmmpanther:PTHR12849	debranching enzyme homolog 1				ENSP00000260803		8-Aug										8-Aug	.		ENST00000260803	Transcript				nucleus	metal ion binding|RNA lariat debranching enzyme activity	ENSG00000138231	g.chr3:137880744_137880746delTCA	15594			MODERATE								--	--	1																																		DBR1_uc003eru.2_In_Frame_Del_p.489_490DD>D|DBR1_uc003ert.2_In_Frame_Del_p.308_309DD>D		1			p.540_541DD>D	NM_016216	NP_057300				DBR1_HUMAN	DBR1	HGNC	Q9UK59	DBR1_HUMAN			F5GWV2_HUMAN		8	1756_1758	-			UPI000006DFC5	540_541					deletion	DBR1,inframe_deletion,p.Asp542del,ENST00000260803,NM_016216.3;DBR1,inframe_deletion,p.Asp308del,ENST00000505015,;DBR1,downstream_gene_variant,,ENST00000477557,;DBR1,downstream_gene_variant,,ENST00000460271,;	uc003erv.2	c.1620_1622delTGA	1774-1776/2666	5	5			c.1620_1622delTGA						3	DEL	c.(1618-1623)GATGAT>GAT	17	17				0	Broad	debranching enzyme homolog 1			137880746		0.261	ENSG00000138231	4182	g.chr3:137880744_137880746delTCA		nucleus	metal ion binding|RNA lariat debranching enzyme activity																				0.02	1	1	0	1	0	0	0	0	0	--	--		0	-			DBR1_uc003eru.2_In_Frame_Del_p.489_490DD>D|DBR1_uc003ert.2_In_Frame_Del_p.308_309DD>D	211	GBM-28-2509-TP	p.540_541DD>D	TCA	AGCTGCATCGTCATCATCATCAT	NM_016216	NP_057300	137880744	Q9UK59	DBR1_HUMAN	0			8	1756_1758	-	-	-			In_Frame_Del	540_541						
DBT	1629	broad.mit.edu	GRCh37	1	100706430	100706430	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0648-01	TCGA-06-0648-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370132.4:c.62G>A	p.Arg21His	p.R21H	ENST00000370132	NM_001918.3	21	cGc/cAc	0		T:0	1	T:0		T	R/H	uc001dta.2	protein_coding	YES	CCDS767.1			62/1449									pancreas(1)	1	c.(61-63)CGC>CAC			hmmpanther:PTHR23151,hmmpanther:PTHR23151:SF46	dihydrolipoamide branched chain transacylase		T:0		ENSP00000359151	T:0	11-Feb	0.000362					0.000376		0.00115	rs533707792,COSM2151388,COSM3399489	11-Feb	common_variant		ENST00000370132	Transcript	1	T:0.0002	branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	ENSG00000137992	g.chr1:100706430C>T	2698			MODERATE		0.145	neutral	getma.org/?cm=msa&ty=f&p=ODB2_HUMAN&rb=1&re=64&var=R21H	NA	getma.org/?cm=var&var=hg19,1,100706430,C,T&fts=all	R21H	--	--	1																																		DBT_uc010oug.1_5'UTR	0,1,1	1		benign(0.003)	p.R21H	NM_001918	NP_001909	T:0.001	tolerated_low_confidence(0.66)	0,1,1	ODB2_HUMAN	DBT	HGNC	P11182	ODB2_HUMAN		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)			2	95	-		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	UPI000013D0E7	21					SNV	DBT,missense_variant,p.Arg21His,ENST00000370132,NM_001918.3;DBT,missense_variant,p.Arg21His,ENST00000370131,;	uc001dta.2	c.62G>A	76/10799	1	1			c.62G>A						1	SNP	c.(61-63)CGC>CAC	15	15			pancreas(1)	1	Broad	dihydrolipoamide branched chain transacylase			100706430		0.313	ENSG00000137992	4183	g.chr1:100706430C>T	branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding							165.560896	KEEP	29	33	-1	42	62	29	33	-1	167.578074	42	62	0.375839	1	0	0	0	0	1	0	0	0	--	--		0	T			DBT_uc010oug.1_5'UTR	61	GBM-06-0648-TP	p.R21H	C	TTGAAAATAGCGAACACAAAT	NM_001918	NP_001909	100706430	P11182	ODB2_HUMAN	0		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)	2	95	-	T	T		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	Missense_Mutation	21						
DCAF11	80344	broad.mit.edu	GRCh37	14	24588926	24588926	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01	TCGA-02-2483-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000446197.3:c.913T>C	p.Ser305Pro	p.S305P	ENST00000446197	NM_025230.4	305	Tcc/Ccc	0			1			C	S/P	uc001wlv.2	protein_coding	YES	CCDS9610.1			913/1641										0	c.(913-915)TCC>CCC			PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19847,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,PIRSF_domain:PIRSF038135,Superfamily_domains:SSF50978	DDB1 and CUL4 associated factor 11 isoform 1				ENSP00000415556		15-Nov									COSM3401253	15-Nov	.		ENST00000446197	Transcript				CUL4 RING ubiquitin ligase complex	protein binding	ENSG00000100897	g.chr14:24588926T>C	20258			MODERATE		1.215	low	getma.org/?cm=msa&ty=f&p=DCA11_HUMAN&rb=299&re=336&var=S305P	NA	getma.org/?cm=var&var=hg19,14,24588926,T,C&fts=all	S305P	--	--	1																																		DCAF11_uc001wlw.2_Missense_Mutation_p.S305P|DCAF11_uc001wlz.2_Missense_Mutation_p.S205P|DCAF11_uc001wly.2_Missense_Mutation_p.S261P|DCAF11_uc001wme.2_Missense_Mutation_p.S265P|DCAF11_uc010tny.1_Missense_Mutation_p.S172P|DCAF11_uc001wmd.2_Missense_Mutation_p.S305P|DCAF11_uc001wmc.2_Missense_Mutation_p.S205P|DCAF11_uc001wmb.3_Missense_Mutation_p.S279P|DCAF11_uc001wma.3_Missense_Mutation_p.S305P	1	1		possibly_damaging(0.864)	p.S305P	NM_001163484	NP_001156956		tolerated(0.07)	1	DCA11_HUMAN	DCAF11	HGNC	Q8TEB1	DCA11_HUMAN			H0YNS2_HUMAN,H0YNK2_HUMAN,H0YMZ4_HUMAN,H0YM56_HUMAN,H0YLQ1_HUMAN,H0YL64_HUMAN,H0YKR8_HUMAN		11	1193	+			UPI0000073AB2	305			WD 4.		SNV	DCAF11,missense_variant,p.Ser305Pro,ENST00000446197,NM_025230.4;DCAF11,missense_variant,p.Ser305Pro,ENST00000559115,NM_001163484.1;DCAF11,missense_variant,p.Ser205Pro,ENST00000396936,;DCAF11,missense_variant,p.Ser279Pro,ENST00000396941,NM_181357.2;DCAF11,missense_variant,p.Ser45Pro,ENST00000559144,;NRL,upstream_gene_variant,,ENST00000561028,;DCAF11,downstream_gene_variant,,ENST00000557810,;DCAF11,downstream_gene_variant,,ENST00000559017,;RP11-468E2.6,upstream_gene_variant,,ENST00000558325,;DCAF11,downstream_gene_variant,,ENST00000561375,;NRL,upstream_gene_variant,,ENST00000558280,;DCAF11,downstream_gene_variant,,ENST00000560901,;DCAF11,downstream_gene_variant,,ENST00000558408,;DCAF11,downstream_gene_variant,,ENST00000560459,;DCAF11,downstream_gene_variant,,ENST00000558638,;DCAF11,downstream_gene_variant,,ENST00000558215,;DCAF11,downstream_gene_variant,,ENST00000559288,;DCAF11,downstream_gene_variant,,ENST00000559593,;DCAF11,downstream_gene_variant,,ENST00000561041,;DCAF11,downstream_gene_variant,,ENST00000559382,;DCAF11,downstream_gene_variant,,ENST00000559354,;DCAF11,downstream_gene_variant,,ENST00000561001,;DCAF11,downstream_gene_variant,,ENST00000560713,;DCAF11,downstream_gene_variant,,ENST00000559796,;DCAF11,downstream_gene_variant,,ENST00000559396,;DCAF11,downstream_gene_variant,,ENST00000560171,;DCAF11,downstream_gene_variant,,ENST00000561056,;DCAF11,downstream_gene_variant,,ENST00000557809,;DCAF11,downstream_gene_variant,,ENST00000561016,;DCAF11,downstream_gene_variant,,ENST00000557952,;DCAF11,3_prime_UTR_variant,,ENST00000557802,;DCAF11,3_prime_UTR_variant,,ENST00000326009,;DCAF11,3_prime_UTR_variant,,ENST00000558914,;DCAF11,non_coding_transcript_exon_variant,,ENST00000558624,;DCAF11,upstream_gene_variant,,ENST00000559472,;DCAF11,downstream_gene_variant,,ENST00000560046,;DCAF11,downstream_gene_variant,,ENST00000559451,;DCAF11,downstream_gene_variant,,ENST00000558706,;DCAF11,downstream_gene_variant,,ENST00000560457,;DCAF11,downstream_gene_variant,,ENST00000557888,;DCAF11,downstream_gene_variant,,ENST00000560614,;	uc001wlv.2	c.913T>C	1640/4299	3	3			c.913T>C						14	SNP	c.(913-915)TCC>CCC	59	59				0	Broad	DDB1 and CUL4 associated factor 11 isoform 1			24588926		0.483	ENSG00000100897	4187	g.chr14:24588926T>C		CUL4 RING ubiquitin ligase complex	protein binding							-18.767312	KEEP	2	2	-1	43	64	2	2	-1	6.632474	43	64	0.028846	1	0	0	0	0	1	0	0	0	--	--		0	C			DCAF11_uc001wlw.2_Missense_Mutation_p.S305P|DCAF11_uc001wlz.2_Missense_Mutation_p.S205P|DCAF11_uc001wly.2_Missense_Mutation_p.S261P|DCAF11_uc001wme.2_Missense_Mutation_p.S265P|DCAF11_uc010tny.1_Missense_Mutation_p.S172P|DCAF11_uc001wmd.2_Missense_Mutation_p.S305P|DCAF11_uc001wmc.2_Missense_Mutation_p.S205P|DCAF11_uc001wmb.3_Missense_Mutation_p.S279P|DCAF11_uc001wma.3_Missense_Mutation_p.S305P	6	GBM-02-2483-TP	p.S305P	T	CTAGATTGAGTCCCATGAGGA	NM_001163484	NP_001156956	24588926	Q8TEB1	DCA11_HUMAN	0			11	1193	+	C	C			Missense_Mutation	305			WD 4.			
DCAF12L1	0	broad.mit.edu	GRCh37	X	125686329	125686329	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01	TCGA-12-0616-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371126.1:c.263C>T	p.Thr88Met	p.T88M	ENST00000371126	NM_178470.4	88	aCg/aTg	0			1			A	T/M	uc004eul.2	protein_coding	YES	CCDS14610.1			263/1392									skin(3)|ovary(1)	4	c.(262-264)ACG>ATG			hmmpanther:PTHR19860,hmmpanther:PTHR19860:SF9	DDB1 and CUL4 associated factor 12-like 1				ENSP00000360167		2-Jan									COSM2153576	2-Jan	.		ENST00000371126	Transcript						ENSG00000198889	g.chrX:125686329G>A	29395			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=DC121_HUMAN&rb=1&re=183&var=T88M	NA	getma.org/?cm=var&var=hg19,X,125686329,G,A&fts=all	T88M	--	--	1																																			1	1		possibly_damaging(0.701)	p.T88M	NM_178470	NP_848565		deleterious(0.01)	1	DC121_HUMAN	DCAF12L1	HGNC	Q5VU92	DC121_HUMAN					1	514	-			UPI0000160112	88					SNV	DCAF12L1,missense_variant,p.Thr88Met,ENST00000371126,NM_178470.4;	uc004eul.2	c.263C>T	506/3379	1	1			c.263C>T						23	SNP	c.(262-264)ACG>ATG	52	52			skin(3)|ovary(1)	4	Broad	DDB1 and CUL4 associated factor 12-like 1			125686329		0.657	ENSG00000198889	4189	g.chrX:125686329G>A										174.592406	KEEP	33	31	-1	44	32	33	31	-1	174.658672	44	32	0.474576	1	0	0	0	0	1	0	0	0	--	--		0	A				118	GBM-12-0616-TP	p.T88M	G	TTGGCGCTCCGTCAGCAGCTC	NM_178470	NP_848565	125686329	Q5VU92	DC121_HUMAN	0			1	514	-	A	A			Missense_Mutation	88						
DCAF12L1	0	broad.mit.edu	GRCh37	X	125685588	125685588	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1825-01	TCGA-14-1825-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371126.1:c.1004G>A	p.Arg335His	p.R335H	ENST00000371126	NM_178470.4	335	cGc/cAc	0			1			T	R/H	uc004eul.2	protein_coding	YES	CCDS14610.1			1004/1392									skin(3)|ovary(1)	4	c.(1003-1005)CGC>CAC			Gene3D:2.130.10.10,hmmpanther:PTHR19860,hmmpanther:PTHR19860:SF9,Superfamily_domains:SSF50978	DDB1 and CUL4 associated factor 12-like 1				ENSP00000360167		2-Jan									COSM3405938	2-Jan	.		ENST00000371126	Transcript						ENSG00000198889	g.chrX:125685588C>T	29395			MODERATE		2.585	medium	getma.org/?cm=msa&ty=f&p=DC121_HUMAN&rb=222&re=421&var=R335H	NA	getma.org/?cm=var&var=hg19,X,125685588,C,T&fts=all	R335H	--	--	1																																			1	1		probably_damaging(0.999)	p.R335H	NM_178470	NP_848565		deleterious(0)	1	DC121_HUMAN	DCAF12L1	HGNC	Q5VU92	DC121_HUMAN					1	1255	-			UPI0000160112	335					SNV	DCAF12L1,missense_variant,p.Arg335His,ENST00000371126,NM_178470.4;	uc004eul.2	c.1004G>A	1247/3379	2	2			c.1004G>A						23	SNP	c.(1003-1005)CGC>CAC	43	43			skin(3)|ovary(1)	4	Broad	DDB1 and CUL4 associated factor 12-like 1			125685588		0.597	ENSG00000198889	4189	g.chrX:125685588C>T										185.140527	KEEP	29	33	-1	6	2	29	33	-1	194.557899	6	2	0.888889	1	0	0	0	0	1	0	0	0	--	--		0	T				148	GBM-14-1825-TP	p.R335H	C	CTGGTCCTGGCGCAGATCCAG	NM_178470	NP_848565	125685588	Q5VU92	DC121_HUMAN	0			1	1255	-	T	T			Missense_Mutation	335						
DCAF12L1	0	broad.mit.edu	GRCh37	X	125685588	125685588	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01	TCGA-76-6193-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371126.1:c.1004G>A	p.Arg335His	p.R335H	ENST00000371126	NM_178470.4	335	cGc/cAc	0			1			T	R/H	uc004eul.2	protein_coding	YES	CCDS14610.1			1004/1392									skin(3)|ovary(1)	4	c.(1003-1005)CGC>CAC			Gene3D:2.130.10.10,hmmpanther:PTHR19860,hmmpanther:PTHR19860:SF9,Superfamily_domains:SSF50978	DDB1 and CUL4 associated factor 12-like 1				ENSP00000360167		2-Jan									COSM3405938	2-Jan	.		ENST00000371126	Transcript						ENSG00000198889	g.chrX:125685588C>T	29395			MODERATE		2.585	medium	getma.org/?cm=msa&ty=f&p=DC121_HUMAN&rb=222&re=421&var=R335H	NA	getma.org/?cm=var&var=hg19,X,125685588,C,T&fts=all	R335H	--	--	1																																			1	1		probably_damaging(0.999)	p.R335H	NM_178470	NP_848565		deleterious(0)	1	DC121_HUMAN	DCAF12L1	HGNC	Q5VU92	DC121_HUMAN					1	1255	-			UPI0000160112	335					SNV	DCAF12L1,missense_variant,p.Arg335His,ENST00000371126,NM_178470.4;	uc004eul.2	c.1004G>A	1247/3379	2	2			c.1004G>A						23	SNP	c.(1003-1005)CGC>CAC	43	43			skin(3)|ovary(1)	4	Broad	DDB1 and CUL4 associated factor 12-like 1			125685588		0.597	ENSG00000198889	4189	g.chrX:125685588C>T										85.195487	KEEP	10	19	-1	9	15	10	19	-1	85.412228	9	15	0.571429	1	0	0	0	0	1	0	0	0	--	--		0	T				276	GBM-76-6193-TP	p.R335H	C	CTGGTCCTGGCGCAGATCCAG	NM_178470	NP_848565	125685588	Q5VU92	DC121_HUMAN	0			1	1255	-	T	T			Missense_Mutation	335						
DCAF12L1	139170		GRCh37	X	125685564	125685564	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000371126.1:c.1028C>T	p.Pro343Leu	p.P343L	ENST00000371126	NM_178470.4	343	cCc/cTc	0																																																																																																																																																																																																																																												
DCAF12L2	340578	broad.mit.edu	GRCh37	X	125299891	125299891	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-02-2485-01	TCGA-02-2485-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000538699.1:c.17C>A	p.Thr6Lys	p.T6K	ENST00000538699	NM_001013628.2	6	aCa/aAa	0			1			T	T/K	uc004euk.1	protein_coding		CCDS43991.1			17/1392									lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7	c.(16-18)ACA>AAA			hmmpanther:PTHR19860,hmmpanther:PTHR19860:SF8	DDB1 and CUL4 associated factor 12-like 2				ENSP00000353128		1-Jan									COSM3405936,COSM3405935	1-Jan	.		ENST00000360028	Transcript						ENSG00000198354	g.chrX:125299891G>T	32950			MODERATE		1.95	medium	getma.org/?cm=msa&ty=f&p=DC122_HUMAN&rb=1&re=183&var=T6K	NA	getma.org/?cm=var&var=hg19,X,125299891,G,T&fts=all	T6K	--	--	1																																			1,1			benign(0.24)	p.T6K	NM_001013628	NP_001013650		deleterious_low_confidence(0.01)	1,1	DC122_HUMAN	DCAF12L2	HGNC	Q5VW00	DC122_HUMAN					1	44	-			UPI0000197594	6					SNV	DCAF12L2,missense_variant,p.Thr6Lys,ENST00000538699,NM_001013628.2;DCAF12L2,missense_variant,p.Thr6Lys,ENST00000360028,;	uc004euk.1	c.17C>A	44/1421	2	2			c.17C>A						23	SNP	c.(16-18)ACA>AAA	28	28			lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7	Broad	DDB1 and CUL4 associated factor 12-like 2			125299891		0.512	ENSG00000198354	4190	g.chrX:125299891G>T										28.4637	KEEP	7	6	0.538461538	5	3	7	6	0.538461538	28.711801	5	3	0.642857	1	0	0	0	0	1	0	0	0	--	--		0	T				7	GBM-02-2485-TP	p.T6K	G	CCTGCTACCTGTTTGCTGCTG	NM_001013628	NP_001013650	125299891	Q5VW00	DC122_HUMAN	0			1	44	-	T	T			Missense_Mutation	6						
DCAF12L2	340578	broad.mit.edu	GRCh37	X	125298905	125298905	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0141-01	TCGA-06-0141-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000538699.1:c.1003C>T	p.Arg335Cys	p.R335C	ENST00000538699	NM_001013628.2	335	Cgc/Tgc	0			1			A	R/C	uc004euk.1	protein_coding		CCDS43991.1			1003/1392									lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7	c.(1003-1005)CGC>TGC			Gene3D:2.130.10.10,hmmpanther:PTHR19860,hmmpanther:PTHR19860:SF8,Superfamily_domains:SSF50978	DDB1 and CUL4 associated factor 12-like 2				ENSP00000353128		1-Jan	8.24E-06					2.12E-05			rs776609885,COSM1114647,COSM1114646	1-Jan	.		ENST00000360028	Transcript						ENSG00000198354	g.chrX:125298905G>A	32950			MODERATE		2.585	medium	getma.org/?cm=msa&ty=f&p=DC122_HUMAN&rb=222&re=421&var=R335C	NA	getma.org/?cm=var&var=hg19,X,125298905,G,A&fts=all	R335C	--	--	1																																			0,1,1			probably_damaging(1)	p.R335C	NM_001013628	NP_001013650		deleterious(0)	0,1,1	DC122_HUMAN	DCAF12L2	HGNC	Q5VW00	DC122_HUMAN					1	1030	-			UPI0000197594	335					SNV	DCAF12L2,missense_variant,p.Arg335Cys,ENST00000538699,NM_001013628.2;DCAF12L2,missense_variant,p.Arg335Cys,ENST00000360028,;	uc004euk.1	c.1003C>T	1030/1421	1	1			c.1003C>T						23	SNP	c.(1003-1005)CGC>TGC	63	63			lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7	Broad	DDB1 and CUL4 associated factor 12-like 2			125298905		0.627	ENSG00000198354	4190	g.chrX:125298905G>A										20.011771	KEEP	11	4	-1	55	33	11	4	-1	32.611613	55	33	0.134021	1	0	0	0	0	1	0	0	0	--	--		0	A				21	GBM-06-0141-TP	p.R335C	G	TGGCGCTGGCGCGGATCCAGG	NM_001013628	NP_001013650	125298905	Q5VW00	DC122_HUMAN	0			1	1030	-	A	A			Missense_Mutation	335						
DCAF12L2	340578	broad.mit.edu	GRCh37	X	125299171	125299171	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01	TCGA-06-0155-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000538699.1:c.737G>A	p.Arg246His	p.R246H	ENST00000538699	NM_001013628.2	246	cGt/cAt	0			1			T	R/H	uc004euk.1	protein_coding		CCDS43991.1			737/1392									lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7	c.(736-738)CGT>CAT			Gene3D:2.130.10.10,hmmpanther:PTHR19860,hmmpanther:PTHR19860:SF8,Superfamily_domains:SSF50978	DDB1 and CUL4 associated factor 12-like 2				ENSP00000353128		1-Jan									COSM1315187,COSM1315186	1-Jan	.		ENST00000360028	Transcript						ENSG00000198354	g.chrX:125299171C>T	32950			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=DC122_HUMAN&rb=222&re=421&var=R246H	NA	getma.org/?cm=var&var=hg19,X,125299171,C,T&fts=all	R246H	--	--	1																																			1,1			benign(0.009)	p.R246H	NM_001013628	NP_001013650		tolerated(0.52)	1,1	DC122_HUMAN	DCAF12L2	HGNC	Q5VW00	DC122_HUMAN					1	764	-			UPI0000197594	246					SNV	DCAF12L2,missense_variant,p.Arg246His,ENST00000538699,NM_001013628.2;DCAF12L2,missense_variant,p.Arg246His,ENST00000360028,;	uc004euk.1	c.737G>A	764/1421	1	1			c.737G>A						23	SNP	c.(736-738)CGT>CAT	2	2			lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7	Broad	DDB1 and CUL4 associated factor 12-like 2			125299171		0.647	ENSG00000198354	4190	g.chrX:125299171C>T										81.456124	KEEP	12	17	-1	9	5	12	17	-1	82.415076	9	5	0.666667	1	0	0	0	0	1	0	0	0	--	--		0	T				27	GBM-06-0155-TP	p.R246H	C	ATCCCTCGGACGGATGTGGGC	NM_001013628	NP_001013650	125299171	Q5VW00	DC122_HUMAN	0			1	764	-	T	T			Missense_Mutation	246						
DCAF12L2	340578	broad.mit.edu	GRCh37	X	125299765	125299765	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01	TCGA-06-0174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000538699.1:c.143G>A	p.Arg48His	p.R48H	ENST00000538699	NM_001013628.2	48	cGt/cAt	0			1			T	R/H	uc004euk.1	protein_coding		CCDS43991.1			143/1392									lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7	c.(142-144)CGT>CAT			hmmpanther:PTHR19860,hmmpanther:PTHR19860:SF8	DDB1 and CUL4 associated factor 12-like 2				ENSP00000353128		1-Jan									COSM3405934,COSM3405933	1-Jan	.		ENST00000360028	Transcript						ENSG00000198354	g.chrX:125299765C>T	32950			MODERATE		1.085	low	getma.org/?cm=msa&ty=f&p=DC122_HUMAN&rb=1&re=183&var=R48H	NA	getma.org/?cm=var&var=hg19,X,125299765,C,T&fts=all	R48H	--	--	1																																			1,1			benign(0.007)	p.R48H	NM_001013628	NP_001013650		tolerated(0.35)	1,1	DC122_HUMAN	DCAF12L2	HGNC	Q5VW00	DC122_HUMAN					1	170	-			UPI0000197594	48					SNV	DCAF12L2,missense_variant,p.Arg48His,ENST00000538699,NM_001013628.2;DCAF12L2,missense_variant,p.Arg48His,ENST00000360028,;	uc004euk.1	c.143G>A	170/1421	2	2			c.143G>A						23	SNP	c.(142-144)CGT>CAT	25	25			lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7	Broad	DDB1 and CUL4 associated factor 12-like 2			125299765		0.731	ENSG00000198354	4190	g.chrX:125299765C>T										30.534854	KEEP	15	7	-1	1	0	15	7	-1	32.080229	1	0	0.9	1	0	0	0	0	1	0	0	0	--	--		0	T				37	GBM-06-0174-TP	p.R48H	C	CAGCCTGCGACGCGTCGCCGG	NM_001013628	NP_001013650	125299765	Q5VW00	DC122_HUMAN	0			1	170	-	T	T			Missense_Mutation	48						
DCAF12L2	340578		GRCh37	X	125299171	125299171	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000538699.1:c.737G>A	p.Arg246His	p.R246H	ENST00000538699	NM_001013628.2	246	cGt/cAt	0																																																																																																																																																																																																																																												
DCAF12L2	340578		GRCh37	X	125299442	125299442	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000538699.1:c.466G>A	p.Glu156Lys	p.E156K	ENST00000538699	NM_001013628.2	156	Gag/Aag	0																																																																																																																																																																																																																																												
DCAF12L2	340578		GRCh37	X	125299277	125299277	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000538699.1:c.631G>A	p.Gly211Ser	p.G211S	ENST00000538699	NM_001013628.2	211	Ggc/Agc	0																																																																																																																																																																																																																																												
DCAF13	25879	broad.mit.edu	GRCh37	8	104427337	104427338	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0166-01	TCGA-06-0166-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297579.5:c.124dup	p.Ala42GlyfsTer46	p.A42Gfs*46	ENST00000297579	NM_015420.6	40	gag/gaGg	0			1			G	E/EX	uc003yln.2	protein_coding	YES	CCDS34934.1			119-120/1794									breast(1)	1	c.(118-120)GAGfs				WD repeats and SOF1 domain containing				ENSP00000297579		11-Jan										11-Jan	.		ENST00000297579	Transcript			rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		ENSG00000164934	g.chr8:104427337_104427338insG	24535	5		HIGH								--	--	1																																		SLC25A32_uc003yll.2_5'UTR|SLC25A32_uc011lhr.1_5'UTR|DCAF13_uc003ylm.1_5'UTR|DCAF13_uc003ylo.2_5'UTR		1			p.E40fs	NM_015420	NP_056235				DCA13_HUMAN	DCAF13	HGNC	Q9NV06	DCA13_HUMAN					1	396_397	+			UPI0000DBEF2A	Error:Variant_position_missing_in_Q9NV06_after_alignment					insertion	DCAF13,frameshift_variant,p.Ala42GlyfsTer46,ENST00000297579,NM_015420.6;SLC25A32,upstream_gene_variant,,ENST00000297578,NM_030780.4;DCAF13,upstream_gene_variant,,ENST00000521971,;SLC25A32,upstream_gene_variant,,ENST00000543107,;DCAF13,upstream_gene_variant,,ENST00000519682,;DCAF13,upstream_gene_variant,,ENST00000521716,;DCAF13,upstream_gene_variant,,ENST00000521999,;SLC25A32,5_prime_UTR_variant,,ENST00000521645,;SLC25A32,5_prime_UTR_variant,,ENST00000523256,;DCAF13,upstream_gene_variant,,ENST00000518554,;SLC25A32,upstream_gene_variant,,ENST00000523866,;	uc003yln.2	c.119_120insG	396-397/2642	5	5			c.119_120insG						8	INS	c.(118-120)GAGfs	48	48			breast(1)	1	Broad	WD repeats and SOF1 domain containing			104427338		0.663	ENSG00000164934	4191	g.chr8:104427337_104427338insG	rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex																					0.23	1	0	0	1	1	0	0	0	0	--	--		0	G			SLC25A32_uc003yll.2_5'UTR|SLC25A32_uc011lhr.1_5'UTR|DCAF13_uc003ylm.1_5'UTR|DCAF13_uc003ylo.2_5'UTR	31	GBM-06-0166-TP	p.E40fs	-	TCTAGTACTGAGGGGGCAAGAA	NM_015420	NP_056235	104427337	Q9NV06	DCA13_HUMAN	0			1	396_397	+	G	G			Frame_Shift_Ins	Error:Variant_position_missing_in_Q9NV06_after_alignment						
DCAF13	0	broad.mit.edu	GRCh37	8	104452461	104452461	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0688-01	TCGA-12-0688-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297579.5:c.1504C>T	p.Arg502Cys	p.R502C	ENST00000297579	NM_015420.6	502	Cgc/Tgc	0			1			T	R/C	uc003yln.2	protein_coding	YES	CCDS34934.1			1504/1794									breast(1)	1	c.(1504-1506)CGC>TGC			Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22851,hmmpanther:PTHR22851:SF0,SMART_domains:SM00320,Superfamily_domains:SSF50978	WD repeats and SOF1 domain containing				ENSP00000297579		11-Sep									COSM3412622	11-Sep	.		ENST00000297579	Transcript			rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		ENSG00000164934	g.chr8:104452461C>T	24535			MODERATE		3.44	medium	getma.org/?cm=msa&ty=f&p=DCA13_HUMAN&rb=306&re=373&var=R350C	NA	getma.org/?cm=var&var=hg19,8,104452461,C,T&fts=all	R350C	--	--	1																																		DCAF13_uc003ylm.1_Missense_Mutation_p.R235C|DCAF13_uc003ylo.2_Missense_Mutation_p.R213C	1	1		possibly_damaging(0.51)	p.R502C	NM_015420	NP_056235		deleterious(0.02)	1	DCA13_HUMAN	DCAF13	HGNC	Q9NV06	DCA13_HUMAN					9	1781	+			UPI0000DBEF2A	350			WD 7.		SNV	DCAF13,missense_variant,p.Arg502Cys,ENST00000297579,NM_015420.6;DCAF13,non_coding_transcript_exon_variant,,ENST00000521999,;DCAF13,non_coding_transcript_exon_variant,,ENST00000518554,;	uc003yln.2	c.1504C>T	1781/2642	2	2			c.1504C>T						8	SNP	c.(1504-1506)CGC>TGC	33	33			breast(1)	1	Broad	WD repeats and SOF1 domain containing			104452461		0.328	ENSG00000164934	4191	g.chr8:104452461C>T	rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex								-26.918396	KEEP	1	3	-1	74	75	1	3	-1	6.760947	74	75	0.028986	1	0	0	0	0	1	0	0	0	--	--		0	T			DCAF13_uc003ylm.1_Missense_Mutation_p.R235C|DCAF13_uc003ylo.2_Missense_Mutation_p.R213C	121	GBM-12-0688-TP	p.R502C	C	AATGAACATTCGCCTGTGGAA	NM_015420	NP_056235	104452461	Q9NV06	DCA13_HUMAN	0			9	1781	+	T	T			Missense_Mutation	350			WD 7.			
DCAF15	0	broad.mit.edu	GRCh37	19	14065391	14065391	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254337.6:c.284G>A	p.Ser95Asn	p.S95N	ENST00000254337	NM_138353.2	95	aGc/aAc	0			1			A	S/N	uc002mxt.2	protein_coding	YES	CCDS32926.1			284/1803									central_nervous_system(1)	1	c.(283-285)AGC>AAC			Pfam_domain:PF14939	DDB1 and CUL4 associated factor 15				ENSP00000254337		13-Mar	8.24E-06					1.50E-05			rs770627387,COSM3403824	13-Mar	.		ENST00000254337	Transcript						ENSG00000132017	g.chr19:14065391G>A	25095			MODERATE		1.01	low	getma.org/?cm=msa&ty=f&p=DCA15_HUMAN&rb=1&re=200&var=S95N	NA	getma.org/?cm=var&var=hg19,19,14065391,G,A&fts=all	S95N	--	--	1																																		PODNL1_uc010xnj.1_5'Flank|PODNL1_uc002mxs.2_5'Flank	0,1	1		benign(0.022)	p.S95N	NM_138353	NP_612362		tolerated(0.62)	0,1	DCA15_HUMAN	DCAF15	HGNC	Q66K64	DCA15_HUMAN					3	290	+			UPI0000203531	95					SNV	DCAF15,missense_variant,p.Ser95Asn,ENST00000254337,NM_138353.2;PODNL1,upstream_gene_variant,,ENST00000538517,NM_001146255.1;PODNL1,upstream_gene_variant,,ENST00000538371,NM_001146254.1;DCAF15,upstream_gene_variant,,ENST00000585468,;DCAF15,upstream_gene_variant,,ENST00000587307,;PODNL1,upstream_gene_variant,,ENST00000587458,;PODNL1,upstream_gene_variant,,ENST00000585607,;PODNL1,upstream_gene_variant,,ENST00000588317,;DCAF15,downstream_gene_variant,,ENST00000591802,;	uc002mxt.2	c.284G>A	305/2271	1	1			c.284G>A						19	SNP	c.(283-285)AGC>AAC	54	54			central_nervous_system(1)	1	Broad	DDB1 and CUL4 associated factor 15			14065391		0.582	ENSG00000132017	4192	g.chr19:14065391G>A										-14.861841	KEEP	2	1	-1	47	66	2	1	-1	7.663648	47	66	0.031915	1	0	0	0	0	1	0	0	0	--	--		0	A			PODNL1_uc010xnj.1_5'Flank|PODNL1_uc002mxs.2_5'Flank	160	GBM-19-1790-TP	p.S95N	G	TCCTACACCAGCAGCAGTGGG	NM_138353	NP_612362	14065391	Q66K64	DCA15_HUMAN	0			3	290	+	A	A			Missense_Mutation	95						
DCAF15	90379		GRCh37	19	14071180	14071180	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000254337.6:c.1608G>C	p.Leu536=	p.L536=	ENST00000254337	NM_138353.2	536	ctG/ctC	0																																																																																																																																																																																																																																												
DCAF4L2	0	broad.mit.edu	GRCh37	8	88886131	88886131	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-76-6282-01	TCGA-76-6282-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319675.3:c.69C>G	p.Leu23=	p.L23=	ENST00000319675	NM_152418.3	23	ctC/ctG	0			1			C	L	uc003ydz.2	protein_coding	YES	CCDS6245.1			69/1188									ovary(1)	1	c.(67-69)CTC>CTG			hmmpanther:PTHR22847:SF401,hmmpanther:PTHR22847	WD repeat domain 21C				ENSP00000316496		1-Jan									COSM3413153	1-Jan	.		ENST00000319675	Transcript						ENSG00000176566	g.chr8:88886131G>C	26657			LOW								--	--	1																																			1	1			p.L23L	NM_152418	NP_689631			1	DC4L2_HUMAN	DCAF4L2	HGNC	Q8NA75	DC4L2_HUMAN			Q8N7W3_HUMAN		1	166	-			UPI0000072860	23					SNV	DCAF4L2,synonymous_variant,p.=,ENST00000319675,NM_152418.3;	uc003ydz.2	c.69C>G	166/3324	4	4			c.69C>G						8	SNP	c.(67-69)CTC>CTG	33	33			ovary(1)	1	Broad	WD repeat domain 21C			88886131		0.532	ENSG00000176566	4197	g.chr8:88886131G>C										-1.778654	KEEP	4	1	-1	34	49	4	1	-1	13.351321	34	49	0.064935	1	0	0	0	0	0	0	1	0	--	--		0	C				278	GBM-76-6282-TP	p.L23L	G	AAGGTGCATTGAGTCCCACTC	NM_152418	NP_689631	88886131	Q8NA75	DC4L2_HUMAN	0			1	166	-	C	C			Silent	23						
DCAF4L2	138009		GRCh37	8	88886278	88886278	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000319675.3:c.-79G>A		p.*27*	ENST00000319675	NM_152418.3			0																																																																																																																																																																																																																																												
DCAF5	8816		GRCh37	14	69520671	69520671	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000341516.5:c.2732G>A	p.Arg911Lys	p.R911K	ENST00000341516	NM_003861.2	911	aGg/aAg	0																																																																																																																																																																																																																																												
DCAF7	10238	broad.mit.edu	GRCh37	17	61657190	61657190	+	intron_variant	Intron	SNP	C	C	A			TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000415273.2:c.139-5383C>A		p.*47*	ENST00000415273		138		0			1			A	T	uc002jbc.2	protein_coding					414/498									ovary(1)	1	c.(412-414)ACC>ACA			Superfamily_domains:SSF50978,Gene3D:2.130.10.10,hmmpanther:PTHR19919	WD-repeat protein				ENSP00000402312		5-Apr									COSM3403107	5-Apr	.		ENST00000431926	Transcript			multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding	ENSG00000136485	g.chr17:61657190C>A	30915			LOW								--	--	1																																		DCAF7_uc002jbb.2_RNA|DCAF7_uc010wpn.1_Intron	1				p.T138T	NM_005828	NP_005819			1		DCAF7	HGNC	P61962	DCAF7_HUMAN			E9PCY4_HUMAN,B4DH46_HUMAN		4	631	+			UPI0001AE6714	138			WD 2.		SNV	DCAF7,synonymous_variant,p.=,ENST00000310827,NM_005828.4;DCAF7,synonymous_variant,p.=,ENST00000431926,;DCAF7,intron_variant,,ENST00000415273,;DCAF7,non_coding_transcript_exon_variant,,ENST00000577702,;DCAF7,non_coding_transcript_exon_variant,,ENST00000582103,;DCAF7,non_coding_transcript_exon_variant,,ENST00000585252,;	uc002jbc.2	c.414C>A	610/694	1	1			c.414C>A						17	SNP	c.(412-414)ACC>ACA	64	64			ovary(1)	1	Broad	WD-repeat protein			61657190		0.562	ENSG00000136485	4200	g.chr17:61657190C>A	multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding							26.252229	KEEP	5	10	0.666666667	19	19	5	10	0.666666667	28.209226	19	19	0.282609	1	0	0	0	0	0	0	1	0	--	--		0	A			DCAF7_uc002jbb.2_RNA|DCAF7_uc010wpn.1_Intron	62	GBM-06-0649-TP	p.T138T	C	TTGCAGGTACCTCAAGCATTG	NM_005828	NP_005819	61657190	P61962	DCAF7_HUMAN	0			4	631	+	A	A			Silent	138			WD 2.			
DCAF8L1	0	broad.mit.edu	GRCh37	X	27998447	27998447	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-06-6391-01	TCGA-06-6391-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000441525.1:c.1005C>G	p.Val335=	p.V335=	ENST00000441525	NM_001017930.1	335	gtC/gtG	0			1			C	V	uc004dbx.1	protein_coding	YES	CCDS35222.1			1005/1803									ovary(3)|skin(1)	4	c.(1003-1005)GTC>GTG			PROSITE_profiles:PS50294,hmmpanther:PTHR15574:SF29,hmmpanther:PTHR15574,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	DDB1 and CUL4 associated factor 8-like 1				ENSP00000405222		1-Jan	1.65E-05		0.000215						rs774251829	1-Jan	.		ENST00000441525	Transcript						ENSG00000226372	g.chrX:27998447G>C	31810			LOW								--	--	1																																				1			p.V335V	NM_001017930	NP_001017930				DC8L1_HUMAN	DCAF8L1	HGNC	A6NGE4	DC8L1_HUMAN					1	1120	-			UPI000022DD1B	335			WD 4.		SNV	DCAF8L1,synonymous_variant,p.=,ENST00000441525,NM_001017930.1;	uc004dbx.1	c.1005C>G	1120/3457	3	3			c.1005C>G						23	SNP	c.(1003-1005)GTC>GTG	53	53			ovary(3)|skin(1)	4	Broad	DDB1 and CUL4 associated factor 8-like 1			27998447		0.418	ENSG00000226372	4202	g.chrX:27998447G>C										30.195677	KEEP	11	7	-1	36	69	11	7	-1	44.594978	36	69	0.144068	1	0	0	0	0	0	0	1	0	--	--		0	C				107	GBM-06-6391-TP	p.V335V	G	TATACAGTCCGACTTTCTTAT	NM_001017930	NP_001017930	27998447	A6NGE4	DC8L1_HUMAN	0			1	1120	-	C	C			Silent	335			WD 4.			
DCAF8L1	0	broad.mit.edu	GRCh37	X	27998785	27998785	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-26-5132-01	TCGA-26-5132-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000441525.1:c.667T>C	p.Trp223Arg	p.W223R	ENST00000441525	NM_001017930.1	223	Tgg/Cgg	0			1			G	W/R	uc004dbx.1	protein_coding	YES	CCDS35222.1			667/1803									ovary(3)|skin(1)	4	c.(667-669)TGG>CGG			PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR15574:SF29,hmmpanther:PTHR15574,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	DDB1 and CUL4 associated factor 8-like 1				ENSP00000405222		1-Jan									COSM2156947	1-Jan	.		ENST00000441525	Transcript						ENSG00000226372	g.chrX:27998785A>G	31810			MODERATE		3.84	high	getma.org/?cm=msa&ty=f&p=DC8L1_HUMAN&rb=187&re=224&var=W223R	NA	getma.org/?cm=var&var=hg19,X,27998785,A,G&fts=all	W223R	--	--	1																																			1	1		probably_damaging(0.998)	p.W223R	NM_001017930	NP_001017930		deleterious(0)	1	DC8L1_HUMAN	DCAF8L1	HGNC	A6NGE4	DC8L1_HUMAN					1	782	-			UPI000022DD1B	223			WD 1.		SNV	DCAF8L1,missense_variant,p.Trp223Arg,ENST00000441525,NM_001017930.1;	uc004dbx.1	c.667T>C	782/3457	3	3			c.667T>C						23	SNP	c.(667-669)TGG>CGG	6	6			ovary(3)|skin(1)	4	Broad	DDB1 and CUL4 associated factor 8-like 1			27998785		0.498	ENSG00000226372	4202	g.chrX:27998785A>G										75.690581	KEEP	15	13	-1	1	4	15	13	-1	77.991554	1	4	0.807692	1	0	0	0	0	1	0	0	0	--	--		0	G				181	GBM-26-5132-TP	p.W223R	A	ACCCAGTCCCACACTATCACC	NM_001017930	NP_001017930	27998785	A6NGE4	DC8L1_HUMAN	0			1	782	-	G	G			Missense_Mutation	223			WD 1.			
DCAF8L1	139425		GRCh37	X	27999308	27999308	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000441525.1:c.144C>T	p.Thr48=	p.T48=	ENST00000441525	NM_001017930.1	48	acC/acT	0																																																																																																																																																																																																																																												
DCAF8L1	139425		GRCh37	X	27999269	27999269	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000441525.1:c.183C>T	p.Asn61=	p.N61=	ENST00000441525	NM_001017930.1	61	aaC/aaT	0																																																																																																																																																																																																																																												
DCC	0	broad.mit.edu	GRCh37	18	50977004	50977004	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-16-0861-01	TCGA-16-0861-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000442544.2:c.3364A>C	p.Thr1122Pro	p.T1122P	ENST00000442544	NM_005215.3	1122	Acc/Ccc	0			1			C	T/P	uc002lfe.1	protein_coding	YES	CCDS11952.1			3364/4344									skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17	c.(3364-3366)ACC>CCC			hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF68	netrin receptor DCC precursor				ENSP00000389140		23/29									COSM3748038	23/29	.		ENST00000442544	Transcript	1		apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		ENSG00000187323	g.chr18:50977004A>C	2701			MODERATE		1.795	low	getma.org/?cm=msa&ty=f&p=DCC_HUMAN&rb=1035&re=1145&var=T1122P	NA	getma.org/?cm=var&var=hg19,18,50977004,A,C&fts=all	T1122P	--	--	1																																		DCC_uc010dpf.1_Missense_Mutation_p.T757P	1	1		benign(0.031)	p.T1122P	NM_005215	NP_005206		deleterious(0.01)	1	DCC_HUMAN	DCC	HGNC	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	J3QQJ6_HUMAN		23	3951	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	UPI00001AEDC6	1122			Helical; (Potential).		SNV	DCC,missense_variant,p.Thr1122Pro,ENST00000442544,NM_005215.3;DCC,missense_variant,p.Thr757Pro,ENST00000581580,;	uc002lfe.1	c.3364A>C	3980/5721	3	3			c.3364A>C						18	SNP	c.(3364-3366)ACC>CCC	52	52			skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17	Broad	netrin receptor DCC precursor			50977004		0.483	ENSG00000187323	4206	g.chr18:50977004A>C	apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane								-0.156099	KEEP	13	5	-1	29	19	13	5	-1	6.414979	29	19	0.12766	1	0	0	0	0	1	0	0	0	--	--		0	C			DCC_uc010dpf.1_Missense_Mutation_p.T757P	156	GBM-16-0861-TP	p.T1122P	A	TGTGATTTGCACCCGACGCTC	NM_005215	NP_005206	50977004	P43146	DCC_HUMAN	0		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	23	3951	+	C	C		all_cancers(7;0.11)|all_epithelial(6;0.00126)	Missense_Mutation	1122			Helical; (Potential).			
DCC	0	broad.mit.edu	GRCh37	18	50451729	50451729	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-5959-01	TCGA-19-5959-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000442544.2:c.974T>C	p.Leu325Pro	p.L325P	ENST00000442544	NM_005215.3	325	cTc/cCc	0			1			C	L/P	uc002lfe.1	protein_coding	YES	CCDS11952.1			974/4344									skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17	c.(973-975)CTC>CCC			Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF68,SMART_domains:SM00409,Superfamily_domains:SSF48726,Superfamily_domains:SSF48726	netrin receptor DCC precursor				ENSP00000389140		29-May									COSM3403558,COSM3403559	29-May	.		ENST00000442544	Transcript	1		apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		ENSG00000187323	g.chr18:50451729T>C	2701			MODERATE		4.415	high	getma.org/?cm=msa&ty=f&p=DCC_HUMAN&rb=240&re=327&var=L325P	getma.org/pdb.php?prot=DCC_HUMAN&from=240&to=327&var=L325P	getma.org/?cm=var&var=hg19,18,50451729,T,C&fts=all	L325P	--	--	1																																		DCC_uc010xdr.1_Missense_Mutation_p.L173P	1,1	1		probably_damaging(0.999)	p.L325P	NM_005215	NP_005206		deleterious(0)	1,1	DCC_HUMAN	DCC	HGNC	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	J3QQJ6_HUMAN		5	1561	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	UPI00001AEDC6	325			Extracellular (Potential).|Ig-like C2-type 3.		SNV	DCC,missense_variant,p.Leu325Pro,ENST00000442544,NM_005215.3;DCC,missense_variant,p.Leu173Pro,ENST00000412726,;DCC,non_coding_transcript_exon_variant,,ENST00000584710,;DCC,missense_variant,p.Leu259Pro,ENST00000304775,;DCC,non_coding_transcript_exon_variant,,ENST00000579883,;	uc002lfe.1	c.974T>C	1590/5721	3	3			c.974T>C						18	SNP	c.(973-975)CTC>CCC	5	5			skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17	Broad	netrin receptor DCC precursor			50451729		0.388	ENSG00000187323	4206	g.chr18:50451729T>C	apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane								189.936029	KEEP	26	41	-1	44	61	26	41	-1	191.224765	44	61	0.398601	1	0	0	0	0	1	0	0	0	--	--		0	C			DCC_uc010xdr.1_Missense_Mutation_p.L173P	177	GBM-19-5959-TP	p.L325P	T	TCTGCAGAGCTCACAGTCTTG	NM_005215	NP_005206	50451729	P43146	DCC_HUMAN	0		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	5	1561	+	C	C		all_cancers(7;0.11)|all_epithelial(6;0.00126)	Missense_Mutation	325			Extracellular (Potential).|Ig-like C2-type 3.			
DCC	1630		GRCh37	18	50592528	50592528	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000442544.2:c.1253C>A	p.Pro418His	p.P418H	ENST00000442544	NM_005215.3	418	cCt/cAt	0																																																																																																																																																																																																																																												
DCHS1	0	broad.mit.edu	GRCh37	11	6655171	6655171	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-12-0615-01	TCGA-12-0615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299441.3:c.2067G>C	p.Glu689Asp	p.E689D	ENST00000299441	NM_003737.2	689	gaG/gaC	0			1			G	E/D	uc001mem.1	protein_coding	YES	CCDS7771.1			2067/9897									ovary(3)|large_intestine(1)|pancreas(1)	5	c.(2065-2067)GAG>GAC			Superfamily_domains:SSF49313,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF294,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	dachsous 1 precursor				ENSP00000299441		21-Apr									COSM2153481	21-Apr	.		ENST00000299441	Transcript	1		calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000166341	g.chr11:6655171C>G	13681			MODERATE		0.93	low	getma.org/?cm=msa&ty=f&p=PCD16_HUMAN&rb=686&re=790&var=E689D	getma.org/pdb.php?prot=PCD16_HUMAN&from=686&to=790&var=E689D	getma.org/?cm=var&var=hg19,11,6655171,C,G&fts=all	E689D	--	--	1																																			1	1		benign(0.003)	p.E689D	NM_003737	NP_003728		tolerated(0.6)	1	PCD16_HUMAN	DCHS1	HGNC	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)			4	2477	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	UPI00001313B6	689			Cadherin 7.|Extracellular (Potential).		SNV	DCHS1,missense_variant,p.Glu689Asp,ENST00000299441,NM_003737.2;RP11-732A19.6,intron_variant,,ENST00000526633,;	uc001mem.1	c.2067G>C	2479/10763	3	3			c.2067G>C						11	SNP	c.(2065-2067)GAG>GAC	11	11			ovary(3)|large_intestine(1)|pancreas(1)	5	Broad	dachsous 1 precursor			6655171		0.557	ENSG00000166341	4211	g.chr11:6655171C>G	calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							146.353316	KEEP	25	25	-1	42	58	25	25	-1	149.417367	42	58	0.338346	1	0	0	0	0	1	0	0	0	--	--		0	G				117	GBM-12-0615-TP	p.E689D	C	TGGCAGCATACTCCCGTGGAT	NM_003737	NP_003728	6655171	Q96JQ0	PCD16_HUMAN	0		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	2477	-	G	G		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	Missense_Mutation	689			Cadherin 7.|Extracellular (Potential).			
DCHS1	0	broad.mit.edu	GRCh37	11	6646055	6646055	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-4068-01	TCGA-19-4068-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299441.3:c.7191C>T	p.Ser2397=	p.S2397=	ENST00000299441	NM_003737.2	2397	tcC/tcT	0			1			A	S	uc001mem.1	protein_coding	YES	CCDS7771.1			7191/9897									ovary(3)|large_intestine(1)|pancreas(1)	5	c.(7189-7191)TCC>TCT			Superfamily_domains:SSF49313,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027:SF294,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	dachsous 1 precursor				ENSP00000299441		20/21									rs370143518,COSM3398067	20/21	.		ENST00000299441	Transcript	1		calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000166341	g.chr11:6646055G>A	13681			LOW								--	--	1																																			0,1	1			p.S2397S	NM_003737	NP_003728			0,1	PCD16_HUMAN	DCHS1	HGNC	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)			20	7601	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	UPI00001313B6	2397			Cadherin 23.|Extracellular (Potential).		SNV	DCHS1,synonymous_variant,p.=,ENST00000299441,NM_003737.2;RP11-732A19.5,downstream_gene_variant,,ENST00000526456,;	uc001mem.1	c.7191C>T	7603/10763	1	1			c.7191C>T						11	SNP	c.(7189-7191)TCC>TCT	59	59			ovary(3)|large_intestine(1)|pancreas(1)	5	Broad	dachsous 1 precursor			6646055		0.557	ENSG00000166341	4211	g.chr11:6646055G>A	calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							-5.626606	KEEP	0	3	-1	30	39	0	3	-1	7.816158	30	39	0.048387	1	0	0	0	0	0	0	1	0	--	--		0	A				168	GBM-19-4068-TP	p.S2397S	G	TGGCAGAGACGGAGAGAATGG	NM_003737	NP_003728	6646055	Q96JQ0	PCD16_HUMAN	0		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	20	7601	-	A	A		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	Silent	2397			Cadherin 23.|Extracellular (Potential).			
DCHS1	0	broad.mit.edu	GRCh37	11	6654846	6654846	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1833-01	TCGA-27-1833-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299441.3:c.2252G>A	p.Arg751Gln	p.R751Q	ENST00000299441	NM_003737.2	751	cGg/cAg	0			1			T	R/Q	uc001mem.1	protein_coding	YES	CCDS7771.1			2252/9897									ovary(3)|large_intestine(1)|pancreas(1)	5	c.(2251-2253)CGG>CAG			Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027:SF294,hmmpanther:PTHR24027,PROSITE_profiles:PS50268	dachsous 1 precursor				ENSP00000299441		21-May	8.25E-06					3.36E-05			rs774036164,COSM3398069	21-May	.		ENST00000299441	Transcript	1		calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000166341	g.chr11:6654846C>T	13681			MODERATE		0.985	low	getma.org/?cm=msa&ty=f&p=PCD16_HUMAN&rb=690&re=781&var=R751Q	getma.org/pdb.php?prot=PCD16_HUMAN&from=690&to=781&var=R751Q	getma.org/?cm=var&var=hg19,11,6654846,C,T&fts=all	R751Q	--	--	1																																			0,1	1		benign(0.015)	p.R751Q	NM_003737	NP_003728		tolerated(0.24)	0,1	PCD16_HUMAN	DCHS1	HGNC	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)			5	2662	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	UPI00001313B6	751			Cadherin 7.|Extracellular (Potential).		SNV	DCHS1,missense_variant,p.Arg751Gln,ENST00000299441,NM_003737.2;RP11-732A19.6,intron_variant,,ENST00000526633,;	uc001mem.1	c.2252G>A	2664/10763	2	2			c.2252G>A						11	SNP	c.(2251-2253)CGG>CAG	35	35			ovary(3)|large_intestine(1)|pancreas(1)	5	Broad	dachsous 1 precursor			6654846		0.547	ENSG00000166341	4211	g.chr11:6654846C>T	calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							16.241615	KEEP	1	10	-1	3	5	1	10	-1	16.258917	3	5	0.461538	1	0	0	0	0	1	0	0	0	--	--		0	T				192	GBM-27-1833-TP	p.R751Q	C	AGAATTGGCCCGTCTGGCCAA	NM_003737	NP_003728	6654846	Q96JQ0	PCD16_HUMAN	0		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	5	2662	-	T	T		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	Missense_Mutation	751			Cadherin 7.|Extracellular (Potential).			
DCHS2	54798	broad.mit.edu	GRCh37	4	155157377	155157377	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-02-2470-01	TCGA-02-2470-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357232.4:c.7062A>G	p.Val2354=	p.V2354=	ENST00000357232	NM_017639.3	2354	gtA/gtG	0			1			C	V	uc003inw.2	protein_coding	YES	CCDS3785.1			7062/8751									ovary(3)|pancreas(1)	4	c.(7060-7062)GTA>GTG			PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	dachsous 2 isoform 1				ENSP00000349768		25/25									COSM3409099	25/25	.		ENST00000357232	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000197410	g.chr4:155157377T>C	23111			LOW								--	--	1																																			1	1			p.V2354V	NM_017639	NP_060109			1	PCD23_HUMAN	DCHS2	HGNC	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	B3KT73_HUMAN		25	7062	-	all_hematologic(180;0.208)	Renal(120;0.0854)	UPI000035B018	2354			Cadherin 21.		SNV	DCHS2,synonymous_variant,p.=,ENST00000357232,NM_017639.3;	uc003inw.2	c.7062A>G	7062/11040	3	3			c.7062A>G						4	SNP	c.(7060-7062)GTA>GTG	9	9			ovary(3)|pancreas(1)	4	Broad	dachsous 2 isoform 1			155157377		0.393	ENSG00000197410	4212	g.chr4:155157377T>C	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							-45.64758	KEEP	2	2	-1	102	100	2	2	-1	6.889327	102	100	0.015228	1	0	0	0	0	0	0	1	0	--	--		0	C				5	GBM-02-2470-TP	p.V2354V	T	AACAGGGTGATACAATAGAAT	NM_017639	NP_060109	155157377	Q6V1P9	PCD23_HUMAN	0		LUSC - Lung squamous cell carcinoma(193;0.107)	25	7062	-	C	C	all_hematologic(180;0.208)	Renal(120;0.0854)	Silent	2354			Cadherin 21.			
DCHS2	54798	broad.mit.edu	GRCh37	4	155226289	155226289	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357232.4:c.3990C>T	p.Thr1330=	p.T1330=	ENST00000357232	NM_017639.3	1330	acC/acT	0			1			A	T	uc003inw.2	protein_coding	YES	CCDS3785.1			3990/8751									ovary(3)|pancreas(1)	4	c.(3988-3990)ACC>ACT			PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	dachsous 2 isoform 1				ENSP00000349768		16/25									COSM2149767	16/25	.		ENST00000357232	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000197410	g.chr4:155226289G>A	23111			LOW								--	--	1																																			1	1			p.T1330T	NM_017639	NP_060109			1	PCD23_HUMAN	DCHS2	HGNC	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	B3KT73_HUMAN		16	3990	-	all_hematologic(180;0.208)	Renal(120;0.0854)	UPI000035B018	1330			Cadherin 11.		SNV	DCHS2,synonymous_variant,p.=,ENST00000357232,NM_017639.3;	uc003inw.2	c.3990C>T	3990/11040	1	1			c.3990C>T						4	SNP	c.(3988-3990)ACC>ACT	63	63			ovary(3)|pancreas(1)	4	Broad	dachsous 2 isoform 1			155226289		0.343	ENSG00000197410	4212	g.chr4:155226289G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							47.056528	KEEP	11	6	-1	20	18	11	6	-1	48.18954	20	18	0.34	1	0	0	0	0	0	0	1	0	--	--		0	A				23	GBM-06-0145-TP	p.T1330T	G	TGTCAAGTATGGTGGTTGTCA	NM_017639	NP_060109	155226289	Q6V1P9	PCD23_HUMAN	0		LUSC - Lung squamous cell carcinoma(193;0.107)	16	3990	-	A	A	all_hematologic(180;0.208)	Renal(120;0.0854)	Silent	1330			Cadherin 11.			
DCHS2	54798	broad.mit.edu	GRCh37	4	155305544	155305544	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0169-01	TCGA-06-0169-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357232.4:c.210C>T	p.Asn70=	p.N70=	ENST00000357232	NM_017639.3	70	aaC/aaT	0	A:0		1			A	N	uc003inw.2	protein_coding	YES	CCDS3785.1			210/8751									ovary(3)|pancreas(1)	4	c.(208-210)AAC>AAT			Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313	dachsous 2 isoform 1			A:0.0001	ENSP00000349768		25-Feb	8.24E-05		0.000176			4.54E-05		0.000306	rs370268335,COSM2150270	25-Feb	.		ENST00000357232	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000197410	g.chr4:155305544G>A	23111			LOW								--	--	1																																		DCHS2_uc003inx.2_Intron	0,1	1			p.N70N	NM_017639	NP_060109			0,1	PCD23_HUMAN	DCHS2	HGNC	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	B3KT73_HUMAN		2	210	-	all_hematologic(180;0.208)	Renal(120;0.0854)	UPI000035B018	70			Cadherin 1.		SNV	DCHS2,synonymous_variant,p.=,ENST00000357232,NM_017639.3;DCHS2,intron_variant,,ENST00000339452,NM_001142552.1;	uc003inw.2	c.210C>T	210/11040	1	1			c.210C>T						4	SNP	c.(208-210)AAC>AAT	63	63			ovary(3)|pancreas(1)	4	Broad	dachsous 2 isoform 1			155305544		0.01	ENSG00000197410	4212	g.chr4:155305544G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							64.735502	KEEP	12	13	-1	32	33	12	13	-1	68.266234	32	33	0.287356	1	0	0	0	0	0	0	1	0	--	--		0	A			DCHS2_uc003inx.2_Intron	34	GBM-06-0169-TP	p.N70N	G	ctggttttgcgttctcttcct	NM_017639	NP_060109	155305544	Q6V1P9	PCD23_HUMAN	0		LUSC - Lung squamous cell carcinoma(193;0.107)	2	210	-	A	A	all_hematologic(180;0.208)	Renal(120;0.0854)	Silent	70			Cadherin 1.			
DCHS2	54798	broad.mit.edu	GRCh37	4	155287453	155287453	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0190-01	TCGA-06-0190-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357232.4:c.603C>T	p.Ala201=	p.A201=	ENST00000357232	NM_017639.3	201	gcC/gcT	0			1			A	A	uc003inw.2	protein_coding	YES	CCDS3785.1			603/8751									ovary(3)|pancreas(1)	4	c.(601-603)GCC>GCT			PROSITE_profiles:PS50268,Gene3D:2.60.40.60,Superfamily_domains:SSF49313,Prints_domain:PR00205	dachsous 2 isoform 1				ENSP00000349768		25-May									COSM3409102,COSM3409103	25-May	.		ENST00000357232	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000197410	g.chr4:155287453G>A	23111			LOW								--	--	1																																		DCHS2_uc003inx.2_Silent_p.A795A	1,1	1			p.A201A	NM_017639	NP_060109			1,1	PCD23_HUMAN	DCHS2	HGNC	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	B3KT73_HUMAN		5	603	-	all_hematologic(180;0.208)	Renal(120;0.0854)	UPI000035B018	201			Cadherin 2.		SNV	DCHS2,synonymous_variant,p.=,ENST00000357232,NM_017639.3;DCHS2,synonymous_variant,p.=,ENST00000339452,NM_001142552.1;	uc003inw.2	c.603C>T	603/11040	1	1			c.603C>T						4	SNP	c.(601-603)GCC>GCT	63	63			ovary(3)|pancreas(1)	4	Broad	dachsous 2 isoform 1			155287453		0.473	ENSG00000197410	4212	g.chr4:155287453G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							111.908075	KEEP	22	17	-1	38	48	22	17	-1	114.967242	38	48	0.327586	1	0	0	0	0	0	0	1	0	--	--		0	A			DCHS2_uc003inx.2_Silent_p.A795A	43	GBM-06-0190-TP	p.A201A	G	CCTGGTCAGTGGCAAGAACAT	NM_017639	NP_060109	155287453	Q6V1P9	PCD23_HUMAN	0		LUSC - Lung squamous cell carcinoma(193;0.107)	5	603	-	A	A	all_hematologic(180;0.208)	Renal(120;0.0854)	Silent	201			Cadherin 2.			
DCHS2	54798	broad.mit.edu	GRCh37	4	155252747	155252747	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0878-01	TCGA-06-0878-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357232.4:c.2353G>A	p.Glu785Lys	p.E785K	ENST00000357232	NM_017639.3	785	Gaa/Aaa	0			1			T	E/K	uc003inw.2	protein_coding	YES	CCDS3785.1			2353/8751									ovary(3)|pancreas(1)	4	c.(2353-2355)GAA>AAA			PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257,SMART_domains:SM00112	dachsous 2 isoform 1				ENSP00000349768		25-Oct									COSM2152216	25-Oct	.		ENST00000357232	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000197410	g.chr4:155252747C>T	23111			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=PCD23_HUMAN&rb=693&re=839&var=E785K	getma.org/pdb.php?prot=PCD23_HUMAN&from=693&to=839&var=E785K	getma.org/?cm=var&var=hg19,4,155252747,C,T&fts=all	E785K	--	--	1																																		DCHS2_uc003inx.2_Intron	1	1		benign(0.023)	p.E785K	NM_017639	NP_060109		tolerated(0.35)	1	PCD23_HUMAN	DCHS2	HGNC	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	B3KT73_HUMAN		10	2353	-	all_hematologic(180;0.208)	Renal(120;0.0854)	UPI000035B018	785			Cadherin 6.		SNV	DCHS2,missense_variant,p.Glu785Lys,ENST00000357232,NM_017639.3;DCHS2,intron_variant,,ENST00000339452,NM_001142552.1;DCHS2,downstream_gene_variant,,ENST00000507542,;DCHS2,downstream_gene_variant,,ENST00000504580,;	uc003inw.2	c.2353G>A	2353/11040	2	2			c.2353G>A						4	SNP	c.(2353-2355)GAA>AAA	17	17			ovary(3)|pancreas(1)	4	Broad	dachsous 2 isoform 1			155252747		0.219	ENSG00000197410	4212	g.chr4:155252747C>T	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							43.382571	KEEP	6	11	-1	16	18	6	11	-1	44.690833	16	18	0.326531	1	0	0	0	0	1	0	0	0	--	--		0	T			DCHS2_uc003inx.2_Intron	74	GBM-06-0878-TP	p.E785K	C	tctcctaattcacagaaCAGA	NM_017639	NP_060109	155252747	Q6V1P9	PCD23_HUMAN	0		LUSC - Lung squamous cell carcinoma(193;0.107)	10	2353	-	T	T	all_hematologic(180;0.208)	Renal(120;0.0854)	Missense_Mutation	785			Cadherin 6.			
DCHS2	54798	broad.mit.edu	GRCh37	4	155249289	155249289	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs111557030	byFrequency	TCGA-06-5414-01	TCGA-06-5414-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357232.4:c.2609C>T	p.Pro870Leu	p.P870L	ENST00000357232	NM_017639.3	870	cCt/cTt	0	A:0.0025	A:0	1	A:0.0058		A	P/L	uc003inw.2	protein_coding	YES	CCDS3785.1			2609/8751									ovary(3)|pancreas(1)	4	c.(2608-2610)CCT>CTT			PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	dachsous 2 isoform 1		A:0	A:0.0108	ENSP00000349768	A:0.006	25-Dec	0.00577	0.00231	0.00337		0.00469	0.00894	0.00881	0.000121	rs111557030,COSM3748256,COSM3748257	25-Dec	common_variant		ENST00000357232	Transcript		A:0.0020	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000197410	g.chr4:155249289G>A	23111			MODERATE		-0.11	neutral	getma.org/?cm=msa&ty=f&p=PCD23_HUMAN&rb=848&re=939&var=P870L	getma.org/pdb.php?prot=PCD23_HUMAN&from=848&to=939&var=P870L	getma.org/?cm=var&var=hg19,4,155249289,G,A&fts=all	P870L	--	--	1																																		DCHS2_uc003inx.2_Missense_Mutation_p.P1325L	0,1,1	1		benign(0.013)	p.P870L	NM_017639	NP_060109	A:0	tolerated(1)	0,1,1	PCD23_HUMAN	DCHS2	HGNC	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	B3KT73_HUMAN		12	2609	-	all_hematologic(180;0.208)	Renal(120;0.0854)	UPI000035B018	870			Cadherin 7.		SNV	DCHS2,missense_variant,p.Pro870Leu,ENST00000357232,NM_017639.3;DCHS2,missense_variant,p.Pro1325Leu,ENST00000339452,NM_001142552.1;DCHS2,downstream_gene_variant,,ENST00000507542,;	uc003inw.2	c.2609C>T	2609/11040	1	1			c.2609C>T						4	SNP	c.(2608-2610)CCT>CTT	52	52			ovary(3)|pancreas(1)	4	Broad	dachsous 2 isoform 1			155249289		0.348	ENSG00000197410	4212	g.chr4:155249289G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							-34.995786	KEEP	2	3	-1	102	88	2	3	-1	9.278763	102	88	0.027778	1	0	0	0	0	1	0	0	0	--	--		0	A			DCHS2_uc003inx.2_Missense_Mutation_p.P1325L	97	GBM-06-5414-TP	p.P870L	G	TCCTTCATCAGGATCCTTTGC	NM_017639	NP_060109	155249289	Q6V1P9	PCD23_HUMAN	0		LUSC - Lung squamous cell carcinoma(193;0.107)	12	2609	-	A	A	all_hematologic(180;0.208)	Renal(120;0.0854)	Missense_Mutation	870			Cadherin 7.			
DCHS2	0	broad.mit.edu	GRCh37	4	155219800	155219800	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-26-1439-01	TCGA-26-1439-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357232.4:c.4301G>C	p.Arg1434Pro	p.R1434P	ENST00000357232	NM_017639.3	1434	cGt/cCt	0			1			G	R/P	uc003inw.2	protein_coding	YES	CCDS3785.1			4301/8751									ovary(3)|pancreas(1)	4	c.(4300-4302)CGT>CCT			PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	dachsous 2 isoform 1				ENSP00000349768		18/25									COSM2156875	18/25	.		ENST00000357232	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000197410	g.chr4:155219800C>G	23111			MODERATE		3.005	medium	getma.org/?cm=msa&ty=f&p=PCD23_HUMAN&rb=1379&re=1469&var=R1434P	getma.org/pdb.php?prot=PCD23_HUMAN&from=1379&to=1469&var=R1434P	getma.org/?cm=var&var=hg19,4,155219800,C,G&fts=all	R1434P	--	--	1																																			1	1		probably_damaging(0.953)	p.R1434P	NM_017639	NP_060109		deleterious(0)	1	PCD23_HUMAN	DCHS2	HGNC	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	B3KT73_HUMAN		18	4301	-	all_hematologic(180;0.208)	Renal(120;0.0854)	UPI000035B018	1434			Cadherin 12.		SNV	DCHS2,missense_variant,p.Arg1434Pro,ENST00000357232,NM_017639.3;	uc003inw.2	c.4301G>C	4301/11040	3	3			c.4301G>C						4	SNP	c.(4300-4302)CGT>CCT	2	2			ovary(3)|pancreas(1)	4	Broad	dachsous 2 isoform 1			155219800		0.393	ENSG00000197410	4212	g.chr4:155219800C>G	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							154.10756	KEEP	22	29	-1	62	70	22	29	-1	161.364989	62	70	0.282353	1	0	0	0	0	1	0	0	0	--	--		0	G				179	GBM-26-1439-TP	p.R1434P	C	GTCCAAAGCACGAGTGGTTGA	NM_017639	NP_060109	155219800	Q6V1P9	PCD23_HUMAN	0		LUSC - Lung squamous cell carcinoma(193;0.107)	18	4301	-	G	G	all_hematologic(180;0.208)	Renal(120;0.0854)	Missense_Mutation	1434			Cadherin 12.			
DCHS2	0	broad.mit.edu	GRCh37	4	155242236	155242236	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-26-1439-01	TCGA-26-1439-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357232.4:c.2950T>C	p.Leu984=	p.L984=	ENST00000357232	NM_017639.3	984	Tta/Cta	0			1			G	L	uc003inw.2	protein_coding	YES	CCDS3785.1			2950/8751									ovary(3)|pancreas(1)	4	c.(2950-2952)TTA>CTA			PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	dachsous 2 isoform 1				ENSP00000349768		14/25									COSM2156869	14/25	.		ENST00000357232	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000197410	g.chr4:155242236A>G	23111			LOW								--	--	1																																			1	1			p.L984L	NM_017639	NP_060109			1	PCD23_HUMAN	DCHS2	HGNC	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	B3KT73_HUMAN		14	2950	-	all_hematologic(180;0.208)	Renal(120;0.0854)	UPI000035B018	984			Cadherin 8.		SNV	DCHS2,synonymous_variant,p.=,ENST00000357232,NM_017639.3;DCHS2,downstream_gene_variant,,ENST00000339452,NM_001142552.1;	uc003inw.2	c.2950T>C	2950/11040	3	3			c.2950T>C						4	SNP	c.(2950-2952)TTA>CTA	59	59			ovary(3)|pancreas(1)	4	Broad	dachsous 2 isoform 1			155242236		0.328	ENSG00000197410	4212	g.chr4:155242236A>G	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							174.024333	KEEP	26	23	-1	36	38	26	23	-1	174.911601	36	38	0.408333	1	0	0	0	0	0	0	1	0	--	--		0	G				179	GBM-26-1439-TP	p.L984L	A	CTAAAATGTAACTTTCCATTA	NM_017639	NP_060109	155242236	Q6V1P9	PCD23_HUMAN	0		LUSC - Lung squamous cell carcinoma(193;0.107)	14	2950	-	G	G	all_hematologic(180;0.208)	Renal(120;0.0854)	Silent	984			Cadherin 8.			
DCHS2	0	broad.mit.edu	GRCh37	4	155219629	155219629	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-26-5132-01	TCGA-26-5132-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357232.4:c.4472C>A	p.Ala1491Asp	p.A1491D	ENST00000357232	NM_017639.3	1491	gCt/gAt	0			1			T	A/D	uc003inw.2	protein_coding	YES	CCDS3785.1			4472/8751									ovary(3)|pancreas(1)	4	c.(4471-4473)GCT>GAT			PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313	dachsous 2 isoform 1				ENSP00000349768		18/25									COSM2156904	18/25	.		ENST00000357232	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000197410	g.chr4:155219629G>T	23111			MODERATE		2.73	medium	getma.org/?cm=msa&ty=f&p=PCD23_HUMAN&rb=1483&re=1574&var=A1491D	getma.org/pdb.php?prot=PCD23_HUMAN&from=1483&to=1574&var=A1491D	getma.org/?cm=var&var=hg19,4,155219629,G,T&fts=all	A1491D	--	--	1																																			1	1		possibly_damaging(0.776)	p.A1491D	NM_017639	NP_060109		deleterious(0.02)	1	PCD23_HUMAN	DCHS2	HGNC	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	B3KT73_HUMAN		18	4472	-	all_hematologic(180;0.208)	Renal(120;0.0854)	UPI000035B018	1491			Cadherin 13.		SNV	DCHS2,missense_variant,p.Ala1491Asp,ENST00000357232,NM_017639.3;	uc003inw.2	c.4472C>A	4472/11040	1	1			c.4472C>A						4	SNP	c.(4471-4473)GCT>GAT	3	3			ovary(3)|pancreas(1)	4	Broad	dachsous 2 isoform 1			155219629		0.463	ENSG00000197410	4212	g.chr4:155219629G>T	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							349.775742	KEEP	64	60	0.516129032	98	104	64	60	0.516129032	353.022485	98	104	0.389439	1	0	0	0	0	1	0	0	0	--	--		0	T				181	GBM-26-5132-TP	p.A1491D	G	TCCCACTTCAGCATCTTCTCT	NM_017639	NP_060109	155219629	Q6V1P9	PCD23_HUMAN	0		LUSC - Lung squamous cell carcinoma(193;0.107)	18	4472	-	T	T	all_hematologic(180;0.208)	Renal(120;0.0854)	Missense_Mutation	1491			Cadherin 13.			
DCHS2	0	broad.mit.edu	GRCh37	4	155241880	155241880	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-26-5139-01	TCGA-26-5139-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357232.4:c.3306G>A	p.Thr1102=	p.T1102=	ENST00000357232	NM_017639.3	1102	acG/acA	0			1			T	T	uc003inw.2	protein_coding	YES	CCDS3785.1			3306/8751									ovary(3)|pancreas(1)	4	c.(3304-3306)ACG>ACA			PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	dachsous 2 isoform 1				ENSP00000349768		14/25									COSM2157200	14/25	.		ENST00000357232	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000197410	g.chr4:155241880C>T	23111			LOW								--	--	1																																			1	1			p.T1102T	NM_017639	NP_060109			1	PCD23_HUMAN	DCHS2	HGNC	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	B3KT73_HUMAN		14	3306	-	all_hematologic(180;0.208)	Renal(120;0.0854)	UPI000035B018	1102			Cadherin 9.		SNV	DCHS2,synonymous_variant,p.=,ENST00000357232,NM_017639.3;DCHS2,downstream_gene_variant,,ENST00000339452,NM_001142552.1;	uc003inw.2	c.3306G>A	3306/11040	1	1			c.3306G>A						4	SNP	c.(3304-3306)ACG>ACA	16	16			ovary(3)|pancreas(1)	4	Broad	dachsous 2 isoform 1			155241880		0.453	ENSG00000197410	4212	g.chr4:155241880C>T	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							446.819274	KEEP	95	117	-1	147	148	95	117	-1	449.938782	147	148	0.411111	1	0	0	0	0	0	0	1	0	--	--		0	T				186	GBM-26-5139-TP	p.T1102T	C	GAAATGGATTCGTGCCAGGGT	NM_017639	NP_060109	155241880	Q6V1P9	PCD23_HUMAN	0		LUSC - Lung squamous cell carcinoma(193;0.107)	14	3306	-	T	T	all_hematologic(180;0.208)	Renal(120;0.0854)	Silent	1102			Cadherin 9.			
DCHS2	0	broad.mit.edu	GRCh37	4	155241881	155241881	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01	TCGA-76-4928-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357232.4:c.3305C>T	p.Thr1102Met	p.T1102M	ENST00000357232	NM_017639.3	1102	aCg/aTg	0			1			A	T/M	uc003inw.2	protein_coding	YES	CCDS3785.1			3305/8751									ovary(3)|pancreas(1)	4	c.(3304-3306)ACG>ATG			PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	dachsous 2 isoform 1				ENSP00000349768		14/25									COSM3409101	14/25	.		ENST00000357232	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000197410	g.chr4:155241881G>A	23111			MODERATE		0.875	low	getma.org/?cm=msa&ty=f&p=PCD23_HUMAN&rb=1060&re=1156&var=T1102M	getma.org/pdb.php?prot=PCD23_HUMAN&from=1060&to=1156&var=T1102M	getma.org/?cm=var&var=hg19,4,155241881,G,A&fts=all	T1102M	--	--	1																																			1	1		benign(0.006)	p.T1102M	NM_017639	NP_060109		tolerated(0.17)	1	PCD23_HUMAN	DCHS2	HGNC	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	B3KT73_HUMAN		14	3305	-	all_hematologic(180;0.208)	Renal(120;0.0854)	UPI000035B018	1102			Cadherin 9.		SNV	DCHS2,missense_variant,p.Thr1102Met,ENST00000357232,NM_017639.3;DCHS2,downstream_gene_variant,,ENST00000339452,NM_001142552.1;	uc003inw.2	c.3305C>T	3305/11040	1	1			c.3305C>T						4	SNP	c.(3304-3306)ACG>ATG	49	49			ovary(3)|pancreas(1)	4	Broad	dachsous 2 isoform 1			155241881		0.453	ENSG00000197410	4212	g.chr4:155241881G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							-4.546646	KEEP	21	21	-1	218	216	21	21	-1	67.453413	218	216	0.081683	1	0	0	0	0	1	0	0	0	--	--		0	A				268	GBM-76-4928-TP	p.T1102M	G	AAATGGATTCGTGCCAGGGTT	NM_017639	NP_060109	155241881	Q6V1P9	PCD23_HUMAN	0		LUSC - Lung squamous cell carcinoma(193;0.107)	14	3305	-	A	A	all_hematologic(180;0.208)	Renal(120;0.0854)	Missense_Mutation	1102			Cadherin 9.			
DCHS2	0	broad.mit.edu	GRCh37	4	155243612	155243612	+	synonymous_variant	Silent	SNP	G	G	A	rs142864637	byFrequency;by1000genomes	TCGA-76-4931-01	TCGA-76-4931-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357232.4:c.2682C>T	p.Asp894=	p.D894=	ENST00000357232	NM_017639.3	894	gaC/gaT	0	A:0.0104	A:0.0144	1	A:0.0043		A	D	uc003inw.2	protein_coding	YES	CCDS3785.1			2682/8751									ovary(3)|pancreas(1)	4	c.(2680-2682)GAC>GAT			PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	dachsous 2 isoform 1		A:0	A:0.0001	ENSP00000349768	A:0	13/25	0.00105	0.0107	0.00107			7.70E-05		6.16E-05	rs142864637,COSM1428041	13/25	common_variant		ENST00000357232	Transcript		A:0.0044	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000197410	g.chr4:155243612G>A	23111			LOW								--	--	1																																			0,1	1			p.D894D	NM_017639	NP_060109	A:0		0,1	PCD23_HUMAN	DCHS2	HGNC	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	B3KT73_HUMAN		13	2682	-	all_hematologic(180;0.208)	Renal(120;0.0854)	UPI000035B018	894			Cadherin 7.		SNV	DCHS2,synonymous_variant,p.=,ENST00000357232,NM_017639.3;DCHS2,downstream_gene_variant,,ENST00000339452,NM_001142552.1;	uc003inw.2	c.2682C>T	2682/11040	1	1			c.2682C>T						4	SNP	c.(2680-2682)GAC>GAT	62	62			ovary(3)|pancreas(1)	4	Broad	dachsous 2 isoform 1			155243612		0.358	ENSG00000197410	4212	g.chr4:155243612G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							38.630572	KEEP	15	20	-1	19	18	15	20	-1	40.649114	19	18	0.285714	1	0	0	0	0	0	0	1	0	--	--		0	A				270	GBM-76-4931-TP	p.D894D	G	CATTGTTGGCGTCAATCTTAA	NM_017639	NP_060109	155243612	Q6V1P9	PCD23_HUMAN	0		LUSC - Lung squamous cell carcinoma(193;0.107)	13	2682	-	A	A	all_hematologic(180;0.208)	Renal(120;0.0854)	Silent	894			Cadherin 7.			
DCHS2	54798		GRCh37	4	155157533	155157533	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000357232.4:c.6906C>T	p.Val2302=	p.V2302=	ENST00000357232	NM_017639.3	2302	gtC/gtT	0																																																																																																																																																																																																																																												
DCK	0	broad.mit.edu	GRCh37	4	71888254	71888254	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-76-4929-01	TCGA-76-4929-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286648.5:c.378T>G	p.Phe126Leu	p.F126L	ENST00000286648	NM_000788.2	126	ttT/ttG	0			1			G	F/L	uc003hfx.2	protein_coding	YES	CCDS3548.1			378/783									ovary(1)	1	c.(376-378)TTT>TTG			Gene3D:3.40.50.300,Pfam_domain:PF01712,PIRSF_domain:PIRSF000705,hmmpanther:PTHR10513,hmmpanther:PTHR10513:SF19,Superfamily_domains:SSF52540	deoxycytidine kinase	Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)			ENSP00000286648		7-Mar									COSM3409458	7-Mar	.		ENST00000286648	Transcript			purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity	ENSG00000156136	g.chr4:71888254T>G	2704			MODERATE		1.31	low	getma.org/?cm=msa&ty=f&p=DCK_HUMAN&rb=96&re=253&var=F126L	getma.org/pdb.php?prot=DCK_HUMAN&from=96&to=253&var=F126L	getma.org/?cm=var&var=hg19,4,71888254,T,G&fts=all	F126L	--	--	1																																		DCK_uc011cbb.1_Missense_Mutation_p.F54L	1	1		benign(0.38)	p.F126L	NM_000788	NP_000779		tolerated(0.06)	1	DCK_HUMAN	DCK	HGNC	P27707	DCK_HUMAN	Lung(101;0.235)		F5CTF3_HUMAN,B4E0A5_HUMAN		3	666	+			UPI0000128FC6	126					SNV	DCK,missense_variant,p.Phe126Leu,ENST00000286648,NM_000788.2;DCK,missense_variant,p.Phe126Leu,ENST00000504952,;DCK,missense_variant,p.Phe126Leu,ENST00000504730,;MOB1B,downstream_gene_variant,,ENST00000511449,;DCK,3_prime_UTR_variant,,ENST00000503359,;DCK,upstream_gene_variant,,ENST00000509764,;	uc003hfx.2	c.378T>G	775/2716	3	3			c.378T>G						4	SNP	c.(376-378)TTT>TTG	1	1			ovary(1)	1	Broad	deoxycytidine kinase		Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	71888254		0.358	ENSG00000156136	4214	g.chr4:71888254T>G	purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity							236.022927	KEEP	38	38	-1	58	55	38	38	-1	237.235747	58	55	0.407407	1	0	0	0	0	1	0	0	0	--	--		0	G			DCK_uc011cbb.1_Missense_Mutation_p.F54L	269	GBM-76-4929-TP	p.F126L	T	TATTATTTTTTGAACGATCTG	NM_000788	NP_000779	71888254	P27707	DCK_HUMAN	0	Lung(101;0.235)		3	666	+	G	G			Missense_Mutation	126						
DCLK1	9201	broad.mit.edu	GRCh37	13	36428681	36428681	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0648-01	TCGA-06-0648-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255448.4:c.990G>A	p.Ser330=	p.S330=	ENST00000255448	NM_004734.4	330	tcG/tcA	0		T:0	1	T:0.0014		T	S	uc001uvf.2	protein_coding					990/2223									stomach(6)|ovary(2)|skin(1)	9	c.(988-990)TCG>TCA			Low_complexity_(Seg):seg,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF123	doublecortin-like kinase 1		T:0		ENSP00000353846	T:0	17-Jun	7.41E-05	9.61E-05	0.000433	0.000116		3.01E-05			rs200783749,COSM292139,COSM292140,COSM3399352,COSM1607040	17-Jun	common_variant		ENST00000360631	Transcript		T:0.0002	cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	ENSG00000133083	g.chr13:36428681C>T	2700			LOW								--	--	1																																		DCLK1_uc001uve.3_Silent_p.S23S|DCLK1_uc010teh.1_Silent_p.S23S|DCLK1_uc010abk.2_Silent_p.S23S|DCLK1_uc001uvh.3_RNA	0,1,1,1,1				p.S330S	NM_004734	NP_004725	T:0		0,1,1,1,1	DCLK1_HUMAN	DCLK1	HGNC	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	B7Z655_HUMAN		6	1223	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	UPI000004F5EA	330			Pro/Ser-rich.		SNV	DCLK1,synonymous_variant,p.=,ENST00000255448,NM_004734.4;DCLK1,synonymous_variant,p.=,ENST00000360631,;DCLK1,synonymous_variant,p.=,ENST00000379893,NM_001195416.1,NM_001195415.1;DCLK1,synonymous_variant,p.=,ENST00000379892,;DCLK1,non_coding_transcript_exon_variant,,ENST00000460982,;	uc001uvf.2	c.990G>A	1202/5629	2	2			c.990G>A						13	SNP	c.(988-990)TCG>TCA	38	38			stomach(6)|ovary(2)|skin(1)	9	Broad	doublecortin-like kinase 1			36428681		0.493	ENSG00000133083	4215	g.chr13:36428681C>T	cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity		p.S23S(LS180-Tumor)	453		p.S23S(LS180-Tumor)	453	4.866227	KEEP	3	9	-1	75	59	3	9	-1	24.203143	75	59	0.088496	1	0	0	0	0	0	0	1	0	--	--		0	T			DCLK1_uc001uve.3_Silent_p.S23S|DCLK1_uc010teh.1_Silent_p.S23S|DCLK1_uc010abk.2_Silent_p.S23S|DCLK1_uc001uvh.3_RNA	61	GBM-06-0648-TP	p.S330S	C	ATGGGCTTGGCGACTTGCCTG	NM_004734	NP_004725	36428681	O15075	DCLK1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	6	1223	-	T	T		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	Silent	330			Pro/Ser-rich.			
DCLK1	9201		GRCh37	13	36686060	36686060	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000255448.4:c.669C>T	p.Ala223=	p.A223=	ENST00000255448	NM_004734.4	223	gcC/gcT	0																																																																																																																																																																																																																																												
DCLK2	0	broad.mit.edu	GRCh37	4	151170830	151170830	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-27-2523-01	TCGA-27-2523-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296550.7:c.2067C>G	p.Val689=	p.V689=	ENST00000296550	NM_001040260.3	689	gtC/gtG	0			1			G	V	uc003ilm.3	protein_coding		CCDS34076.1			2067/2301									ovary(3)	3	c.(2065-2067)GTC>GTG			hmmpanther:PTHR24347:SF122,hmmpanther:PTHR24347	doublecortin-like kinase 2 isoform a				ENSP00000296550		15/16									COSM3409088,COSM3409087	15/16	.		ENST00000296550	Transcript			intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity	ENSG00000170390	g.chr4:151170830C>G	19002			LOW								--	--	1																																		DCLK2_uc003iln.3_Silent_p.V688V|DCLK2_uc003ilo.3_Silent_p.V706V|DCLK2_uc003ilp.3_RNA	1,1				p.V689V	NM_001040260	NP_001035350			1,1	DCLK2_HUMAN	DCLK2	HGNC	Q8N568	DCLK2_HUMAN					15	2167	+	all_hematologic(180;0.151)		UPI0000D615C8	689					SNV	DCLK2,synonymous_variant,p.=,ENST00000296550,NM_001040260.3;DCLK2,synonymous_variant,p.=,ENST00000302176,NM_001040261.4;DCLK2,synonymous_variant,p.=,ENST00000506325,;DCLK2,synonymous_variant,p.=,ENST00000411937,;	uc003ilm.3	c.2067C>G	2821/4265	3	3			c.2067C>G						4	SNP	c.(2065-2067)GTC>GTG	62	62			ovary(3)	3	Broad	doublecortin-like kinase 2 isoform a			151170830		0.532	ENSG00000170390	4216	g.chr4:151170830C>G	intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity	GBM(195;186 2215 13375 16801 37459)		411	GBM(195;186 2215 13375 16801 37459)		411	234.720211	KEEP	43	38	-1	63	64	43	38	-1	235.689739	63	64	0.418182	1	0	0	0	0	0	0	1	0	--	--		0	G			DCLK2_uc003iln.3_Silent_p.V688V|DCLK2_uc003ilo.3_Silent_p.V706V|DCLK2_uc003ilp.3_RNA	201	GBM-27-2523-TP	p.V689V	C	GGGTCTCCGTCATCATGGTGA	NM_001040260	NP_001035350	151170830	Q8N568	DCLK2_HUMAN	0			15	2167	+	G	G	all_hematologic(180;0.151)		Silent	689						
DCLK3	0	broad.mit.edu	GRCh37	3	36779980	36779980	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5955-01	TCGA-19-5955-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000416516.2:c.171C>T	p.Thr57=	p.T57=	ENST00000416516	NM_033403.1	57	acC/acT	0	A:0.0003	A:0	1	A:0.0014		A	T	uc003cgi.2	protein_coding	YES	CCDS43064.1			171/1947									lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9	c.(169-171)ACC>ACT			hmmpanther:PTHR24347:SF138,hmmpanther:PTHR24347	doublecortin-like kinase 3		A:0.001	A:0	ENSP00000394484	A:0	5-Feb	0.000149	0.000209	8.71E-05	0.00118		6.25E-05			rs188521258,COSM2156807	5-Feb	common_variant		ENST00000416516	Transcript		A:0.0004		cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	ENSG00000163673	g.chr3:36779980G>A	19005			LOW								--	--	1																																			0,1	1			p.T57T	NM_033403	NP_208382	A:0		0,1	DCLK3_HUMAN	DCLK3	HGNC	Q9C098	DCLK3_HUMAN			B3KVM3_HUMAN		2	662	-			UPI0000E2657D	57					SNV	DCLK3,synonymous_variant,p.=,ENST00000416516,NM_033403.1;	uc003cgi.2	c.171C>T	662/5344	1	1			c.171C>T						3	SNP	c.(169-171)ACC>ACT	64	64			lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9	Broad	doublecortin-like kinase 3			36779980		0.617	ENSG00000163673	4217	g.chr3:36779980G>A		cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			128			128	74.37554	KEEP	19	11	-1	44	62	19	11	-1	83.303304	44	62	0.224806	1	0	0	0	0	0	0	1	0	--	--		0	A				175	GBM-19-5955-TP	p.T57T	G	TGGGGGTCTCGGTCTCCCCAC	NM_033403	NP_208382	36779980	Q9C098	DCLK3_HUMAN	0			2	662	-	A	A			Silent	57						
DCLK3	0	broad.mit.edu	GRCh37	3	36779849	36779850	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C			TCGA-26-5132-01	TCGA-26-5132-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000416516.2:c.301dupG	p.Glu101GlyfsTer6	p.E101Gfs*6	ENST00000416516	NM_033403.1	101	gag/gGag	0			1			C	E/GX	uc003cgi.2	protein_coding	YES	CCDS43064.1			301-302/1947									lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9	c.(301-303)GAGfs			hmmpanther:PTHR24347:SF138,hmmpanther:PTHR24347	doublecortin-like kinase 3				ENSP00000394484		5-Feb										5-Feb	.		ENST00000416516	Transcript				cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	ENSG00000163673	g.chr3:36779849_36779850insC	19005			HIGH								--	--	1																																				1			p.E101fs	NM_033403	NP_208382				DCLK3_HUMAN	DCLK3	HGNC	Q9C098	DCLK3_HUMAN			B3KVM3_HUMAN		2	792_793	-			UPI0000E2657D	101					insertion	DCLK3,frameshift_variant,p.Glu101GlyfsTer6,ENST00000416516,NM_033403.1;	uc003cgi.2	c.301_302insG	792-793/5344	5	5			c.301_302insG						3	INS	c.(301-303)GAGfs	1	1			lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9	Broad	doublecortin-like kinase 3			36779850		0.589	ENSG00000163673	4217	g.chr3:36779849_36779850insC		cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			128			128														0.02	1	0	0	1	1	0	0	0	0	--	--		0	C				181	GBM-26-5132-TP	p.E101fs	-	GGGTTCTGGCTCCCATTTCCCC	NM_033403	NP_208382	36779849	Q9C098	DCLK3_HUMAN	0			2	792_793	-	C	C			Frame_Shift_Ins	101						
DCLK3	0	broad.mit.edu	GRCh37	3	36779774	36779774	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01	TCGA-27-2523-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000416516.2:c.377G>A	p.Gly126Glu	p.G126E	ENST00000416516	NM_033403.1	126	gGg/gAg	0			1			T	G/E	uc003cgi.2	protein_coding	YES	CCDS43064.1			377/1947									lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9	c.(376-378)GGG>GAG			hmmpanther:PTHR24347:SF138,hmmpanther:PTHR24347	doublecortin-like kinase 3				ENSP00000394484		5-Feb									COSM583413	5-Feb	.		ENST00000416516	Transcript				cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	ENSG00000163673	g.chr3:36779774C>T	19005			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=DCLK3_HUMAN&rb=32&re=282&var=G126E	NA	getma.org/?cm=var&var=hg19,3,36779774,C,T&fts=all	G126E	--	--	1																																			1	1		benign(0.027)	p.G126E	NM_033403	NP_208382		tolerated(0.6)	1	DCLK3_HUMAN	DCLK3	HGNC	Q9C098	DCLK3_HUMAN			B3KVM3_HUMAN		2	868	-			UPI0000E2657D	126					SNV	DCLK3,missense_variant,p.Gly126Glu,ENST00000416516,NM_033403.1;	uc003cgi.2	c.377G>A	868/5344	1	1			c.377G>A						3	SNP	c.(376-378)GGG>GAG	15	15			lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9	Broad	doublecortin-like kinase 3			36779774		0.567	ENSG00000163673	4217	g.chr3:36779774C>T		cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity		p.G126E(JHUEM2-Tumor)	128		p.G126E(JHUEM2-Tumor)	128	386.216017	KEEP	86	64	-1	128	126	86	64	-1	391.039371	128	126	0.372024	1	0	0	0	0	1	0	0	0	--	--		0	T				201	GBM-27-2523-TP	p.G126E	C	AATCTCCACCCCAAGATGCTT	NM_033403	NP_208382	36779774	Q9C098	DCLK3_HUMAN	0			2	868	-	T	T			Missense_Mutation	126						
DCLRE1A	9937	broad.mit.edu	GRCh37	10	115610208	115610208	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-5418-01	TCGA-06-5418-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361384.2:c.656A>G	p.Gln219Arg	p.Q219R	ENST00000361384	NM_014881.4	219	cAa/cGa	0			1			C	Q/R	uc001law.2	protein_coding	YES	CCDS7584.1			656/3123									skin(2)	2	c.(655-657)CAA>CGA		Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	hmmpanther:PTHR23240,hmmpanther:PTHR23240:SF6	DNA cross-link repair 1A				ENSP00000355185		9-Feb									COSM3396921	9-Feb	.		ENST00000361384	Transcript			cell division|mitosis	nucleus	hydrolase activity	ENSG00000198924	g.chr10:115610208T>C	17660			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=DCR1A_HUMAN&rb=1&re=334&var=Q219R	NA	getma.org/?cm=var&var=hg19,10,115610208,T,C&fts=all	Q219R	--	--	1																																			1	1		benign(0.408)	p.Q219R	NM_014881	NP_055696		tolerated(0.06)	1	DCR1A_HUMAN	DCLRE1A	HGNC	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)			2	1574	-			UPI000006EFFE	219					SNV	DCLRE1A,missense_variant,p.Gln219Arg,ENST00000361384,NM_014881.4;DCLRE1A,missense_variant,p.Gln219Arg,ENST00000369305,NM_001271816.1;NHLRC2,upstream_gene_variant,,ENST00000369301,NM_198514.3;DCLRE1A,downstream_gene_variant,,ENST00000476112,;NHLRC2,upstream_gene_variant,,ENST00000468890,;	uc001law.2	c.656A>G	1574/4464	3	3			c.656A>G						10	SNP	c.(655-657)CAA>CGA	5	5			skin(2)	2	Broad	DNA cross-link repair 1A	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function		115610208		0.433	ENSG00000198924	4218	g.chr10:115610208T>C	cell division|mitosis	nucleus	hydrolase activity							-3.115528	KEEP	1	2	-1	24	24	1	2	-1	7.0054	24	24	0.06	1	0	0	0	0	1	0	0	0	--	--		0	C				100	GBM-06-5418-TP	p.Q219R	T	GTTATCAGTTTGGTTCTGATA	NM_014881	NP_055696	115610208	Q6PJP8	DCR1A_HUMAN	0		Epithelial(162;0.0157)|all cancers(201;0.0171)	2	1574	-	C	C			Missense_Mutation	219						
DCLRE1B	0	broad.mit.edu	GRCh37	1	114448263	114448263	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01	TCGA-14-4157-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369563.3:c.55C>T	p.Arg19Cys	p.R19C	ENST00000369563	NM_022836.3	19	Cgc/Tgc	0			1			T	R/C	uc001eeg.2	protein_coding	YES	CCDS866.1			55/1599										0	c.(55-57)CGC>TGC		Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	hmmpanther:PTHR23240,hmmpanther:PTHR23240:SF5	DNA cross-link repair 1B (PSO2 homolog, S.				ENSP00000358576		4-Jan									COSM3399547	4-Jan	.		ENST00000369563	Transcript	1		cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding	ENSG00000118655	g.chr1:114448263C>T	17641			MODERATE		2.57	medium	getma.org/?cm=msa&ty=f&p=DCR1B_HUMAN&rb=7&re=172&var=R19C	getma.org/pdb.php?prot=DCR1B_HUMAN&from=7&to=172&var=R19C	getma.org/?cm=var&var=hg19,1,114448263,C,T&fts=all	R19C	--	--	1																																		AP4B1_uc001eeb.2_5'Flank|AP4B1_uc001eec.2_5'Flank|AP4B1_uc001eed.2_5'Flank|AP4B1_uc010owp.1_5'Flank|AP4B1_uc010owq.1_5'Flank|DCLRE1B_uc001eeh.2_5'UTR|DCLRE1B_uc001eei.2_5'UTR	1	1		probably_damaging(0.998)	p.R19C	NM_022836	NP_073747		deleterious(0)	1	DCR1B_HUMAN	DCLRE1B	HGNC	Q9H816	DCR1B_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)			1	226	+	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)	UPI000006FBBC	19					SNV	DCLRE1B,missense_variant,p.Arg19Cys,ENST00000369563,NM_022836.3;AP4B1,upstream_gene_variant,,ENST00000369569,NM_001253852.1;AP4B1,upstream_gene_variant,,ENST00000256658,NM_006594.3,NM_001253853.1;AP4B1,upstream_gene_variant,,ENST00000369567,;AP4B1,upstream_gene_variant,,ENST00000369566,;AP4B1,upstream_gene_variant,,ENST00000369564,;AP4B1,upstream_gene_variant,,ENST00000369571,;AP4B1,upstream_gene_variant,,ENST00000432415,;AP4B1-AS1,downstream_gene_variant,,ENST00000419536,;DCLRE1B,non_coding_transcript_exon_variant,,ENST00000466480,;AP4B1,upstream_gene_variant,,ENST00000489499,;AP4B1,upstream_gene_variant,,ENST00000484201,;AP4B1,upstream_gene_variant,,ENST00000489092,;AP4B1,upstream_gene_variant,,ENST00000472122,;	uc001eeg.2	c.55C>T	501/3940	1	1			c.55C>T						1	SNP	c.(55-57)CGC>TGC	8	8				0	Broad	DNA cross-link repair 1B (PSO2 homolog, S.	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function		114448263		0.642	ENSG00000118655	4219	g.chr1:114448263C>T	cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding							-38.082061	KEEP	2	3	-1	91	115	2	3	-1	8.197274	91	115	0.026738	1	0	0	0	0	1	0	0	0	--	--		0	T			AP4B1_uc001eeb.2_5'Flank|AP4B1_uc001eec.2_5'Flank|AP4B1_uc001eed.2_5'Flank|AP4B1_uc010owp.1_5'Flank|AP4B1_uc010owq.1_5'Flank|DCLRE1B_uc001eeh.2_5'UTR|DCLRE1B_uc001eei.2_5'UTR	152	GBM-14-4157-TP	p.R19C	C	CTGGAGCCTGCGCCGGGCTGG	NM_022836	NP_073747	114448263	Q9H816	DCR1B_HUMAN	0		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	226	+	T	T	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)	Missense_Mutation	19						
DCLRE1B	0	broad.mit.edu	GRCh37	1	114454356	114454356	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-28-1747-01	TCGA-28-1747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369563.3:c.1142G>A	p.Trp381Ter	p.W381*	ENST00000369563	NM_022836.3	381	tGg/tAg	0			1			A	W/*	uc001eeg.2	protein_coding	YES	CCDS866.1			1142/1599										0	c.(1141-1143)TGG>TAG		Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	hmmpanther:PTHR23240,hmmpanther:PTHR23240:SF5	DNA cross-link repair 1B (PSO2 homolog, S.				ENSP00000358576		4-Apr									COSM3399548	4-Apr	.		ENST00000369563	Transcript	1		cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding	ENSG00000118655	g.chr1:114454356G>A	17641			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,114454356,G,A&fts=all	W381*	--	--	1																																		DCLRE1B_uc001eeh.2_Nonsense_Mutation_p.W255*|DCLRE1B_uc001eei.2_Nonsense_Mutation_p.W255*	1	1			p.W381*	NM_022836	NP_073747			1	DCR1B_HUMAN	DCLRE1B	HGNC	Q9H816	DCR1B_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)			4	1313	+	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)	UPI000006FBBC	381					SNV	DCLRE1B,stop_gained,p.Trp381Ter,ENST00000369563,NM_022836.3;DCLRE1B,non_coding_transcript_exon_variant,,ENST00000466480,;	uc001eeg.2	c.1142G>A	1588/3940	5	1			c.1142G>A						1	SNP	c.(1141-1143)TGG>TAG	62	62				0	Broad	DNA cross-link repair 1B (PSO2 homolog, S.	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function		114454356		0.483	ENSG00000118655	4219	g.chr1:114454356G>A	cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding							243.906209	KEEP	40	46	-1	51	76	40	46	-1	245.596536	51	76	0.402913	1	0	0	0	0	0	1	0	0	--	--		0	A			DCLRE1B_uc001eeh.2_Nonsense_Mutation_p.W255*|DCLRE1B_uc001eei.2_Nonsense_Mutation_p.W255*	206	GBM-28-1747-TP	p.W381*	G	CTTTCTCCCTGGCCTGCGGAC	NM_022836	NP_073747	114454356	Q9H816	DCR1B_HUMAN	0		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1313	+	A	A	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)	Nonsense_Mutation	381						
DCLRE1B	64858		GRCh37	1	114454524	114454524	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000369563.3:c.1310C>G	p.Ser437Cys	p.S437C	ENST00000369563	NM_022836.3	437	tCt/tGt	0																																																																																																																																																																																																																																												
DCN	1634	broad.mit.edu	GRCh37	12	91552214	91552214	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0213-01	TCGA-06-0213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000052754.5:c.397C>T	p.Arg133Ter	p.R133*	ENST00000052754	NM_001920.3	133	Cga/Tga	0			1			A	R/*	uc001tbs.2	protein_coding	YES	CCDS9039.1			397/1080								p.R133*(1)	central_nervous_system(2)|ovary(1)|lung(1)	4	c.(397-399)CGA>TGA			PROSITE_profiles:PS51450,hmmpanther:PTHR24369:SF5,hmmpanther:PTHR24369,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00364,SMART_domains:SM00369,PIRSF_domain:PIRSF002490,Superfamily_domains:SSF52058	decorin isoform a preproprotein				ENSP00000052754		8-Apr									COSM42740	8-Apr	.		ENST00000052754	Transcript	1		organ morphogenesis	extracellular space		ENSG00000011465	g.chr12:91552214G>A	2705			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,12,91552214,G,A&fts=all	R133*	--	--	1																																		DCN_uc001tbo.2_Intron|DCN_uc001tbp.2_Intron|DCN_uc001tbq.2_Intron|DCN_uc001tbr.2_Intron|DCN_uc001tbt.2_Nonsense_Mutation_p.R133*|DCN_uc001tbu.2_Nonsense_Mutation_p.R133*	1	1			p.R133*	NM_133503	NP_598010			1	PGS2_HUMAN	DCN	HGNC	P07585	PGS2_HUMAN			Q6FH10_HUMAN,F8VXZ8_HUMAN,F8VX58_HUMAN,F8VWU0_HUMAN,F8VUF6_HUMAN		3	491	-			UPI000013187E	133			LRR 3.		SNV	DCN,stop_gained,p.Arg133Ter,ENST00000052754,NM_001920.3;DCN,stop_gained,p.Arg133Ter,ENST00000393155,NM_133503.2;DCN,stop_gained,p.Arg133Ter,ENST00000552962,;DCN,stop_gained,p.Arg133Ter,ENST00000547937,;DCN,stop_gained,p.Arg133Ter,ENST00000552145,;DCN,stop_gained,p.Arg133Ter,ENST00000550563,;DCN,intron_variant,,ENST00000228329,;DCN,intron_variant,,ENST00000303320,NM_133506.2;DCN,intron_variant,,ENST00000425043,NM_133505.2;DCN,intron_variant,,ENST00000547568,;DCN,intron_variant,,ENST00000420120,NM_133504.2;DCN,intron_variant,,ENST00000546391,;DCN,intron_variant,,ENST00000441303,;DCN,intron_variant,,ENST00000456569,NM_133507.2;DCN,downstream_gene_variant,,ENST00000549513,;	uc001tbs.2	c.397C>T	899/2392	5	2			c.397C>T						12	SNP	c.(397-399)CGA>TGA	21	21		p.R133*(1)	central_nervous_system(2)|ovary(1)|lung(1)	4	Broad	decorin isoform a preproprotein			91552214		0.408	ENSG00000011465	4221	g.chr12:91552214G>A	organ morphogenesis	extracellular space								168.892287	KEEP	38	34	-1	85	78	38	34	-1	176.249694	85	78	0.303738	1	0	0	0	0	0	1	0	0	--	--		0	A			DCN_uc001tbo.2_Intron|DCN_uc001tbp.2_Intron|DCN_uc001tbq.2_Intron|DCN_uc001tbr.2_Intron|DCN_uc001tbt.2_Nonsense_Mutation_p.R133*|DCN_uc001tbu.2_Nonsense_Mutation_p.R133*	49	GBM-06-0213-TP	p.R133*	G	AGATAAAGTCGTTCCAACTTC	NM_133503	NP_598010	91552214	P07585	PGS2_HUMAN	0			3	491	-	A	A			Nonsense_Mutation	133			LRR 3.			
DCP1A	0	broad.mit.edu	GRCh37	3	53376299	53376299	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A			TCGA-41-2571-01	TCGA-41-2571-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000607628.1:c.177-1G>T		p.X59_splice	ENST00000607628	NM_018403.5			0			1			A		uc003dgs.3	protein_coding	YES				177/1755										0	c.e3-1				DCP1 decapping enzyme homolog A				ENSP00000475920											COSM3408813		.		ENST00000607628	Transcript			exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding	ENSG00000162290	g.chr3:53376299C>A	18714			HIGH	9-Feb							--	--	1																																		DCP1A_uc003dgt.3_Splice_Site	1	1			p.R59_splice	NM_018403	NP_060873			1		DCP1A	HGNC	Q9NPI6	DCP1A_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)	U3KQI9_HUMAN		3	270	-			UPI00001AEBBA						SNV	DCP1A,splice_acceptor_variant,,ENST00000607628,NM_018403.5;DCP1A,splice_acceptor_variant,,ENST00000294241,;DCP1A,splice_acceptor_variant,,ENST00000606822,;DCP1A,splice_acceptor_variant,,ENST00000480258,;DCP1A,splice_acceptor_variant,,ENST00000494659,;DCP1A,splice_acceptor_variant,,ENST00000560624,;DCP1A,splice_acceptor_variant,,ENST00000560076,;DCP1A,splice_acceptor_variant,,ENST00000559748,;	uc003dgs.3	c.177_splice	-/6016	5	1			c.177_splice						3	SNP	c.e3-1	58	58				0	Broad	DCP1 decapping enzyme homolog A			53376299		0.294	ENSG00000162290	4222	g.chr3:53376299C>A	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding							22.892915	KEEP	4	6	0.6	8	9	4	6	0.6	23.253299	8	9	0.363636	1	0	0	0	0	0	0	0	1	--	--		0	A			DCP1A_uc003dgt.3_Splice_Site	250	GBM-41-2571-TP	p.R59_splice	C	GGAAGCTGACCTTAGATTTAA	NM_018403	NP_060873	53376299	Q9NPI6	DCP1A_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)	3	270	-	A	A			Splice_Site							
DCSTAMP	0	broad.mit.edu	GRCh37	8	105360771	105360771	+	splice_region_variant,5_prime_UTR_variant	Splice_Region	SNP	C	C	T			TCGA-12-0688-01	TCGA-12-0688-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297581.2:c.-10C>T		p.X4_splice	ENST00000297581	NM_030788.3			0			1			T		uc003ylx.1	protein_coding	YES	CCDS6301.1			-/1413									pancreas(2)|large_intestine(1)|ovary(1)	4	c.(-11--7)GACGC>GATGC				dendritic cell-specific transmembrane protein				ENSP00000297581		4-Feb	8.24E-06					1.52E-05			rs780987832	4-Feb	.		ENST00000297581	Transcript			osteoclast differentiation	cell surface|integral to membrane|plasma membrane		ENSG00000164935	g.chr8:105360771C>T	18549			LOW								--	--	1																																				1				NM_030788	NP_110415				DCSTP_HUMAN	DCSTAMP	HGNC	Q9H295	TM7S4_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)				2	40	+			UPI000003BCB5						SNV	DCSTAMP,splice_region_variant,,ENST00000297581,NM_030788.3;DCSTAMP,5_prime_UTR_variant,,ENST00000517991,NM_001257317.1;DCSTAMP,splice_region_variant,,ENST00000518023,;DCSTAMP,splice_region_variant,,ENST00000517364,;DCSTAMP,splice_region_variant,,ENST00000519562,;DPYS,intron_variant,,ENST00000521601,;DCSTAMP,upstream_gene_variant,,ENST00000518051,;	uc003ylx.1	c.-9C>T	40/1953	2	2			c.-9C>T						8	SNP	c.(-11--7)GACGC>GATGC	18	18			pancreas(2)|large_intestine(1)|ovary(1)	4	Broad	dendritic cell-specific transmembrane protein			105360771		0.393	ENSG00000164935	15731	g.chr8:105360771C>T	osteoclast differentiation	cell surface|integral to membrane|plasma membrane								118.415526	KEEP	30	17	-1	48	33	30	17	-1	120.573839	48	33	0.355932	1	0	0	0	0	0	0	0	0	--	--		0	T				121	GBM-12-0688-TP		C	ATTTTCAGGACGCAGGGAGCA	NM_030788	NP_110415	105360771	Q9H295	TM7S4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		2	40	+	T	T			Translation_Start_Site							
DCSTAMP	0	broad.mit.edu	GRCh37	8	105361359	105361359	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-2554-01	TCGA-14-2554-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297581.2:c.579C>T	p.Val193=	p.V193=	ENST00000297581	NM_030788.3	193	gtC/gtT	0			1			T	V	uc003ylx.1	protein_coding	YES	CCDS6301.1			579/1413									pancreas(2)|large_intestine(1)|ovary(1)	4	c.(577-579)GTC>GTT			hmmpanther:PTHR21041,hmmpanther:PTHR21041:SF2	dendritic cell-specific transmembrane protein				ENSP00000297581		4-Feb									COSM3412664	4-Feb	.		ENST00000297581	Transcript			osteoclast differentiation	cell surface|integral to membrane|plasma membrane		ENSG00000164935	g.chr8:105361359C>T	18549			LOW								--	--	1																																			1	1			p.V193V	NM_030788	NP_110415			1	DCSTP_HUMAN	DCSTAMP	HGNC	Q9H295	TM7S4_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)				2	628	+			UPI000003BCB5	193					SNV	DCSTAMP,synonymous_variant,p.=,ENST00000297581,NM_030788.3;DCSTAMP,synonymous_variant,p.=,ENST00000517991,NM_001257317.1;DPYS,intron_variant,,ENST00000521601,;DCSTAMP,downstream_gene_variant,,ENST00000518023,;DCSTAMP,upstream_gene_variant,,ENST00000518051,;DCSTAMP,downstream_gene_variant,,ENST00000517364,;DCSTAMP,downstream_gene_variant,,ENST00000519562,;	uc003ylx.1	c.579C>T	628/1953	1	1			c.579C>T						8	SNP	c.(577-579)GTC>GTT	10	10			pancreas(2)|large_intestine(1)|ovary(1)	4	Broad	dendritic cell-specific transmembrane protein			105361359		0.527	ENSG00000164935	15731	g.chr8:105361359C>T	osteoclast differentiation	cell surface|integral to membrane|plasma membrane								233.408799	KEEP	50	45	-1	93	90	50	45	-1	238.880196	93	90	0.341463	1	0	0	0	0	0	0	1	0	--	--		0	T				150	GBM-14-2554-TP	p.V193V	C	AAGGGGAAGTCCTGAGCGTCT	NM_030788	NP_110415	105361359	Q9H295	TM7S4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		2	628	+	T	T			Silent	193						
DCSTAMP	0	broad.mit.edu	GRCh37	8	105361318	105361318	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01	TCGA-32-2632-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297581.2:c.538C>T	p.His180Tyr	p.H180Y	ENST00000297581	NM_030788.3	180	Cat/Tat	0			1			T	H/Y	uc003ylx.1	protein_coding	YES	CCDS6301.1			538/1413									pancreas(2)|large_intestine(1)|ovary(1)	4	c.(538-540)CAT>TAT			hmmpanther:PTHR21041,hmmpanther:PTHR21041:SF2	dendritic cell-specific transmembrane protein				ENSP00000297581		4-Feb									COSM3412663	4-Feb	.		ENST00000297581	Transcript			osteoclast differentiation	cell surface|integral to membrane|plasma membrane		ENSG00000164935	g.chr8:105361318C>T	18549			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=TM7S4_HUMAN&rb=70&re=241&var=H180Y	NA	getma.org/?cm=var&var=hg19,8,105361318,C,T&fts=all	H180Y	--	--	1																																			1	1		benign(0.162)	p.H180Y	NM_030788	NP_110415		tolerated(0.14)	1	DCSTP_HUMAN	DCSTAMP	HGNC	Q9H295	TM7S4_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)				2	587	+			UPI000003BCB5	180					SNV	DCSTAMP,missense_variant,p.His180Tyr,ENST00000297581,NM_030788.3;DCSTAMP,missense_variant,p.His180Tyr,ENST00000517991,NM_001257317.1;DPYS,intron_variant,,ENST00000521601,;DCSTAMP,downstream_gene_variant,,ENST00000518023,;DCSTAMP,upstream_gene_variant,,ENST00000518051,;DCSTAMP,downstream_gene_variant,,ENST00000517364,;DCSTAMP,downstream_gene_variant,,ENST00000519562,;	uc003ylx.1	c.538C>T	587/1953	1	1			c.538C>T						8	SNP	c.(538-540)CAT>TAT	1	1			pancreas(2)|large_intestine(1)|ovary(1)	4	Broad	dendritic cell-specific transmembrane protein			105361318		0.507	ENSG00000164935	15731	g.chr8:105361318C>T	osteoclast differentiation	cell surface|integral to membrane|plasma membrane								219.990482	KEEP	50	31	-1	88	58	50	31	-1	222.963798	88	58	0.37	1	0	0	0	0	1	0	0	0	--	--		0	T				240	GBM-32-2632-TP	p.H180Y	C	CAGTCCCAGCCATGTCCTGGA	NM_030788	NP_110415	105361318	Q9H295	TM7S4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		2	587	+	T	T			Missense_Mutation	180						
DCSTAMP	81501		GRCh37	8	105361477	105361477	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000297581.2:c.697C>T	p.Arg233Ter	p.R233*	ENST00000297581	NM_030788.3	233	Cga/Tga	0																																																																																																																																																																																																																																												
DCTN1	0	broad.mit.edu	GRCh37	2	74592698	74592698	+	synonymous_variant	Silent	SNP	G	G	A	rs140969689	by1000genomes	TCGA-12-0821-01	TCGA-12-0821-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361874.3:c.2973C>T	p.Ile991=	p.I991=	ENST00000361874	NM_004082.4	991	atC/atT	0		A:0.0008	1	A:0		A	I	uc002skx.2	protein_coding	YES	CCDS1939.1			2973/3837									ovary(3)|skin(2)	5	c.(2971-2973)ATC>ATT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18916:SF29,hmmpanther:PTHR18916	dynactin 1 isoform 1		A:0		ENSP00000354791	A:0	25/32	1.65E-05					3.00E-05			rs140969689,COSM3407982	25/32	.		ENST00000361874	Transcript	1	A:0.0002	cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	ENSG00000204843	g.chr2:74592698G>A	2711			LOW								--	--	1																																		SLC4A5_uc002skl.2_5'Flank|DCTN1_uc002skt.1_5'Flank|DCTN1_uc002skv.2_Silent_p.I857I|DCTN1_uc002sku.2_Silent_p.I857I|DCTN1_uc002skw.1_Silent_p.I967I|DCTN1_uc010ffd.2_Silent_p.I971I|DCTN1_uc002sky.2_Silent_p.I954I	0,1	1			p.I991I	NM_004082	NP_004073	A:0		0,1	DCTN1_HUMAN	DCTN1	HGNC	Q14203	DCTN1_HUMAN			Q6LCB2_HUMAN,E7EWF7_HUMAN,C9JZA4_HUMAN,C9JTE5_HUMAN,C9JJN7_HUMAN,C9JJD0_HUMAN,C9J1B7_HUMAN		25	3284	-			UPI0000129A25	991			Potential.		SNV	DCTN1,synonymous_variant,p.=,ENST00000361874,NM_004082.4;DCTN1,synonymous_variant,p.=,ENST00000394003,NM_001190837.1;DCTN1,synonymous_variant,p.=,ENST00000409240,NM_001190836.1;DCTN1,synonymous_variant,p.=,ENST00000409868,;DCTN1,synonymous_variant,p.=,ENST00000407639,NM_023019.3;DCTN1,synonymous_variant,p.=,ENST00000409438,NM_001135041.2;DCTN1,synonymous_variant,p.=,ENST00000409567,NM_001135040.2;DCTN1,intron_variant,,ENST00000497666,;DCTN1,downstream_gene_variant,,ENST00000495643,;DCTN1,3_prime_UTR_variant,,ENST00000434055,;DCTN1,non_coding_transcript_exon_variant,,ENST00000466110,;DCTN1,non_coding_transcript_exon_variant,,ENST00000495895,;RP11-287D1.3,upstream_gene_variant,,ENST00000451608,;DCTN1,upstream_gene_variant,,ENST00000491465,;DCTN1,upstream_gene_variant,,ENST00000492717,;	uc002skx.2	c.2973C>T	3291/4500	1	1			c.2973C>T						2	SNP	c.(2971-2973)ATC>ATT	51	51			ovary(3)|skin(2)	5	Broad	dynactin 1 isoform 1			74592698		0.577	ENSG00000204843	4230	g.chr2:74592698G>A	cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding							258.014902	KEEP	62	32	-1	54	35	62	32	-1	258.038825	54	35	0.512658	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC4A5_uc002skl.2_5'Flank|DCTN1_uc002skt.1_5'Flank|DCTN1_uc002skv.2_Silent_p.I857I|DCTN1_uc002sku.2_Silent_p.I857I|DCTN1_uc002skw.1_Silent_p.I967I|DCTN1_uc010ffd.2_Silent_p.I971I|DCTN1_uc002sky.2_Silent_p.I954I	123	GBM-12-0821-TP	p.I991I	G	GGACTTTCTCGATGCGCTCAT	NM_004082	NP_004073	74592698	Q14203	DCTN1_HUMAN	0			25	3284	-	A	A			Silent	991			Potential.			
DCTN4	0	broad.mit.edu	GRCh37	5	150133220	150133220	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A			TCGA-32-1991-01	TCGA-32-1991-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000447998.2:c.207-1G>T		p.X69_splice	ENST00000447998	NM_016221.3			0			1			A		uc003lsv.2	protein_coding		CCDS4310.1			207/1383									central_nervous_system(1)	1	c.e3-1				dynactin 4 (p62) isoform b				ENSP00000416968											COSM3410004		.		ENST00000447998	Transcript	1			centrosome|nucleus	protein N-terminus binding	ENSG00000132912	g.chr5:150133220C>A	15518			HIGH	12-Feb							--	--	1																																		DCTN4_uc003lsu.2_Splice_Site_p.R12_splice|DCTN4_uc010jhi.2_Splice_Site_p.R69_splice|DCTN4_uc010jhj.2_Splice_Site|DCTN4_uc011dck.1_Splice_Site_p.R12_splice	1				p.R69_splice	NM_016221	NP_057305			1	DCTN4_HUMAN	DCTN4	HGNC	Q9UJW0	DCTN4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Q9NSJ5_HUMAN,H9KVE0_HUMAN,E5RK21_HUMAN,E5RGG1_HUMAN		3	309	-		Medulloblastoma(196;0.167)	UPI0000070EC1						SNV	DCTN4,splice_acceptor_variant,,ENST00000447998,NM_016221.3;DCTN4,splice_acceptor_variant,,ENST00000424236,NM_001135644.1;DCTN4,splice_acceptor_variant,,ENST00000446090,NM_001135643.1;DCTN4,splice_acceptor_variant,,ENST00000518015,;DCTN4,splice_acceptor_variant,,ENST00000521533,;DCTN4,splice_acceptor_variant,,ENST00000521093,;DCTN4,splice_acceptor_variant,,ENST00000519313,;DCTN4,splice_acceptor_variant,,ENST00000521448,;DCTN4,splice_acceptor_variant,,ENST00000517421,;	uc003lsv.2	c.207_splice	-/4208	5	2			c.207_splice						5	SNP	c.e3-1	21	21			central_nervous_system(1)	1	Broad	dynactin 4 (p62) isoform b			150133220		0.438	ENSG00000132912	4233	g.chr5:150133220C>A		centrosome|nucleus	protein N-terminus binding							92.189349	KEEP	15	21	0.583333333	15	24	15	21	0.583333333	92.240961	15	24	0.470588	1	0	0	0	0	0	0	0	1	--	--		0	A			DCTN4_uc003lsu.2_Splice_Site_p.R12_splice|DCTN4_uc010jhi.2_Splice_Site_p.R69_splice|DCTN4_uc010jhj.2_Splice_Site|DCTN4_uc011dck.1_Splice_Site_p.R12_splice	234	GBM-32-1991-TP	p.R69_splice	C	ATTGGCACATCTGTGACATGA	NM_016221	NP_057305	150133220	Q9UJW0	DCTN4_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	309	-	A	A		Medulloblastoma(196;0.167)	Splice_Site							
DCTN6	0	broad.mit.edu	GRCh37	8	30040689	30040689	+	stop_lost	Nonstop_Mutation	SNP	A	A	C			TCGA-27-1838-01	TCGA-27-1838-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221114.3:c.573A>C	p.Ter191TyrextTer6	p.*191Yext*6	ENST00000221114	NM_006571.3	191	taA/taC	0			1			C	*/Y	uc003xhy.2	protein_coding	YES	CCDS6076.1			573/573									ovary(1)	1	c.(571-573)TAA>TAC				dynactin 6				ENSP00000221114		7-Jul									COSM3412969	7-Jul	.		ENST00000221114	Transcript				centrosome	transferase activity	ENSG00000104671	g.chr8:30040689A>C	16964			HIGH								--	--	1																																			1	1			p.*191Y	NM_006571	NP_006562			1	DCTN6_HUMAN	DCTN6	HGNC	O00399	DCTN6_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)			7	660	+			UPI0000138F9C	191					SNV	DCTN6,stop_lost,p.Ter191TyrextTer6,ENST00000221114,NM_006571.3;DCTN6,downstream_gene_variant,,ENST00000520829,;RP11-51J9.4,upstream_gene_variant,,ENST00000523733,;DCTN6,3_prime_UTR_variant,,ENST00000523666,;DCTN6,3_prime_UTR_variant,,ENST00000522141,;DCTN6,downstream_gene_variant,,ENST00000519830,;	uc003xhy.2	c.573A>C	660/1127	5	3			c.573A>C						8	SNP	c.(571-573)TAA>TAC	52	52			ovary(1)	1	Broad	dynactin 6			30040689		0.378	ENSG00000104671	4235	g.chr8:30040689A>C		centrosome	transferase activity							50.028173	KEEP	12	11	-1	28	42	12	11	-1	55.159977	28	42	0.244186	1	0	0	0	0	0	0	0	0	--	--		0	C				197	GBM-27-1838-TP	p.*191Y	A	TAAAGAACTAAGAACAGTGTA	NM_006571	NP_006562	30040689	O00399	DCTN6_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)	7	660	+	C	C			Nonstop_Mutation	191						
DDAH1	0	broad.mit.edu	GRCh37	1	85790448	85790448	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-08-0386-01	TCGA-08-0386-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284031.8:c.716C>T	p.Pro239Leu	p.P239L	ENST00000284031	NM_012137.3	239	cCg/cTg	0			1			A	P/L	uc001dlb.2	protein_coding	YES	CCDS705.1			716/858										0	c.(715-717)CCG>CTG			Superfamily_domains:SSF55909,Pfam_domain:PF02274,Gene3D:3.75.10.10,hmmpanther:PTHR12737:SF17,hmmpanther:PTHR12737	dimethylarginine dimethylaminohydrolase 1	L-Citrulline(DB00155)			ENSP00000284031		6-May	3.29E-05		8.64E-05			3.00E-05		6.06E-05	rs756689761,COSM3401056	6-May	.		ENST00000284031	Transcript			arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding	ENSG00000153904	g.chr1:85790448G>A	2715			MODERATE		2.875	medium	getma.org/?cm=msa&ty=f&p=DDAH1_HUMAN&rb=12&re=281&var=P239L	getma.org/pdb.php?prot=DDAH1_HUMAN&from=12&to=281&var=P239L	getma.org/?cm=var&var=hg19,1,85790448,G,A&fts=all	P239L	--	--	1																																		DDAH1_uc001dlc.2_Missense_Mutation_p.P136L|uc001dla.1_Intron|DDAH1_uc010osb.1_Missense_Mutation_p.P139L|DDAH1_uc009wco.2_Missense_Mutation_p.P136L	0,1	1		benign(0.42)	p.P239L	NM_012137	NP_036269		tolerated(0.21)	0,1	DDAH1_HUMAN	DDAH1	HGNC	O94760	DDAH1_HUMAN		all cancers(265;0.0318)|Epithelial(280;0.0657)	B4E3V1_HUMAN,B1AKK2_HUMAN		5	877	-			UPI000015C44E	239					SNV	DDAH1,missense_variant,p.Pro239Leu,ENST00000284031,NM_012137.3;DDAH1,missense_variant,p.Pro136Leu,ENST00000535924,NM_001134445.1;DDAH1,missense_variant,p.Pro239Leu,ENST00000539042,;DDAH1,missense_variant,p.Pro139Leu,ENST00000542148,;DDAH1,missense_variant,p.Pro146Leu,ENST00000426972,;RP11-131L23.1,intron_variant,,ENST00000427819,;RP11-131L23.1,intron_variant,,ENST00000426125,;DDAH1,non_coding_transcript_exon_variant,,ENST00000483110,;	uc001dlb.2	c.716C>T	811/3920	2	2			c.716C>T						1	SNP	c.(715-717)CCG>CTG	32	32				0	Broad	dimethylarginine dimethylaminohydrolase 1		L-Citrulline(DB00155)	85790448		0.473	ENSG00000153904	4245	g.chr1:85790448G>A	arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding							58.982851	KEEP	15	17	-1	104	94	15	17	-1	83.335006	104	94	0.149758	1	0	0	0	0	1	0	0	0	--	--		0	A			DDAH1_uc001dlc.2_Missense_Mutation_p.P136L|uc001dla.1_Intron|DDAH1_uc010osb.1_Missense_Mutation_p.P139L|DDAH1_uc009wco.2_Missense_Mutation_p.P136L	116	GBM-08-0386-TP	p.P239L	G	ATACTCTTCCGGGGTTCGGTG	NM_012137	NP_036269	85790448	O94760	DDAH1_HUMAN	0		all cancers(265;0.0318)|Epithelial(280;0.0657)	5	877	-	A	A			Missense_Mutation	239						
DDAH2	0	broad.mit.edu	GRCh37	6	31696723	31696723	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-76-6191-01	TCGA-76-6191-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375787.2:c.216A>G	p.Gly72=	p.G72=	ENST00000375787	NM_013974.1	72	ggA/ggG	0			1			C	G	uc003nwp.2	protein_coding		CCDS4718.1			216/858										0	c.(214-216)GGA>GGG			Low_complexity_(Seg):seg,hmmpanther:PTHR12737,hmmpanther:PTHR12737:SF16,Pfam_domain:PF02274,Gene3D:3.75.10.10,Superfamily_domains:SSF55909	dimethylarginine dimethylaminohydrolase 2	L-Citrulline(DB00155)			ENSP00000364943		7-Feb										7-Feb	.		ENST00000375787	Transcript			anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding	ENSG00000213722	g.chr6:31696723T>C	2716			LOW								--	--	1																																		DDAH2_uc003nwq.2_Silent_p.G72G					p.G72G	NM_013974	NP_039268				DDAH2_HUMAN	DDAH2	HGNC	O95865	DDAH2_HUMAN			Q5SSV3_HUMAN,Q5SRR8_HUMAN		1	847	-			UPI0000033BA3	72					SNV	DDAH2,synonymous_variant,p.=,ENST00000375789,;DDAH2,synonymous_variant,p.=,ENST00000375792,;DDAH2,synonymous_variant,p.=,ENST00000375787,NM_013974.1;DDAH2,synonymous_variant,p.=,ENST00000416410,;DDAH2,synonymous_variant,p.=,ENST00000436437,;C6orf25,downstream_gene_variant,,ENST00000375809,NM_138272.2,NM_025260.3,NM_138277.2;CLIC1,downstream_gene_variant,,ENST00000375780,NM_001287593.1;CLIC1,downstream_gene_variant,,ENST00000375784,NM_001288.4;CLIC1,downstream_gene_variant,,ENST00000395892,NM_001287594.1;CLIC1,downstream_gene_variant,,ENST00000375779,;C6orf25,downstream_gene_variant,,ENST00000375810,;C6orf25,downstream_gene_variant,,ENST00000375806,;C6orf25,downstream_gene_variant,,ENST00000480039,;DDAH2,upstream_gene_variant,,ENST00000437288,;C6orf25,downstream_gene_variant,,ENST00000375805,NM_138273.2;C6orf25,downstream_gene_variant,,ENST00000375804,NM_138274.2;C6orf25,downstream_gene_variant,,ENST00000375814,NM_138275.2;DDAH2,intron_variant,,ENST00000480913,;DDAH2,intron_variant,,ENST00000483792,;DDAH2,non_coding_transcript_exon_variant,,ENST00000469963,;DDAH2,non_coding_transcript_exon_variant,,ENST00000488119,;C6orf25,downstream_gene_variant,,ENST00000460663,;C6orf25,downstream_gene_variant,,ENST00000471545,;C6orf25,downstream_gene_variant,,ENST00000485548,;C6orf25,downstream_gene_variant,,ENST00000466312,;	uc003nwp.2	c.216A>G	489/1330	4	4			c.216A>G						6	SNP	c.(214-216)GGA>GGG	46	46				0	Broad	dimethylarginine dimethylaminohydrolase 2		L-Citrulline(DB00155)	31696723		0.662	ENSG00000213722	4246	g.chr6:31696723T>C	anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding							-3.803301	KEEP	1	3	-1	26	31	1	3	-1	6.304423	26	31	0.075472	1	0	0	0	0	0	0	1	0	--	--		0	C			DDAH2_uc003nwq.2_Silent_p.G72G	274	GBM-76-6191-TP	p.G72G	T	CAAGCAGCGGTCCCAGCGGCA	NM_013974	NP_039268	31696723	O95865	DDAH2_HUMAN	0			1	847	-	C	C			Silent	72						
DDC	0	broad.mit.edu	GRCh37	7	50607722	50607722	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01	TCGA-41-3393-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357936.5:c.206C>T	p.Thr69Met	p.T69M	ENST00000357936	NM_000790.3	69	aCg/aTg	0			1			A	T/M	uc003tpf.3	protein_coding		CCDS5511.1			206/1443									ovary(2)	2	c.(205-207)ACG>ATG			hmmpanther:PTHR11999:SF69,hmmpanther:PTHR11999,Gene3D:3k40A01,Pfam_domain:PF00282,Superfamily_domains:SSF53383	dopa decarboxylase (aromatic L-amino acid	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)			ENSP00000350616		15-Mar	3.30E-05					3.44E-05		0.00014	rs777956037,COSM292944,COSM3412147	15-Mar	.		ENST00000357936	Transcript	1		cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	ENSG00000132437	g.chr7:50607722G>A	2719			MODERATE		3.725	high	getma.org/?cm=msa&ty=f&p=DDC_HUMAN&rb=35&re=414&var=T69M	getma.org/pdb.php?prot=DDC_HUMAN&from=35&to=414&var=T69M	getma.org/?cm=var&var=hg19,7,50607722,G,A&fts=all	T69M	--	--	1																																		DDC_uc010kza.2_Missense_Mutation_p.T69M|DDC_uc003tpg.3_Missense_Mutation_p.T69M	0,1,1			probably_damaging(1)	p.T69M	NM_000790	NP_000781		deleterious(0.01)	0,1,1	DDC_HUMAN	DDC	HGNC	P20711	DDC_HUMAN			C9JMP0_HUMAN		3	292	-	Glioma(55;0.08)|all_neural(89;0.245)		UPI000013F150	69			1.|2 X approximate tandem repeats.		SNV	DDC,missense_variant,p.Thr69Met,ENST00000444124,NM_001082971.1;DDC,missense_variant,p.Thr69Met,ENST00000357936,NM_000790.3,NM_001242886.1,NM_001242887.1;DDC,missense_variant,p.Thr69Met,ENST00000431062,NM_001242889.1;DDC,missense_variant,p.Thr35Met,ENST00000430300,;DDC,missense_variant,p.Thr69Met,ENST00000380984,NM_001242890.1;DDC,intron_variant,,ENST00000426377,NM_001242888.1;DDC,downstream_gene_variant,,ENST00000420203,;AC018705.5,non_coding_transcript_exon_variant,,ENST00000454521,;DDC,non_coding_transcript_exon_variant,,ENST00000489162,;DDC,intron_variant,,ENST00000444733,;	uc003tpf.3	c.206C>T	275/1938	2	2			c.206C>T						7	SNP	c.(205-207)ACG>ATG	32	32			ovary(2)	2	Broad	dopa decarboxylase (aromatic L-amino acid		Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	50607722		0.647	ENSG00000132437	4249	g.chr7:50607722G>A	cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding							27.789671	KEEP	8	4	-1	19	19	8	4	-1	30.685505	19	19	0.244898	1	0	0	0	0	1	0	0	0	--	--		0	A			DDC_uc010kza.2_Missense_Mutation_p.T69M|DDC_uc003tpg.3_Missense_Mutation_p.T69M	255	GBM-41-3393-TP	p.T69M	G	GTGCCAGTGCGTCACCTGCAT	NM_000790	NP_000781	50607722	P20711	DDC_HUMAN	0			3	292	-	A	A	Glioma(55;0.08)|all_neural(89;0.245)		Missense_Mutation	69			1.|2 X approximate tandem repeats.			
DDI1	414301	broad.mit.edu	GRCh37	11	103908056	103908056	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0192-01	TCGA-06-0192-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302259.3:c.506A>C	p.Glu169Ala	p.E169A	ENST00000302259	NM_001001711.2	169	gAa/gCa	0			1			C	E/A	uc001phr.2	protein_coding	YES	CCDS31660.1			506/1191									large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5	c.(505-507)GAA>GCA			hmmpanther:PTHR12917,hmmpanther:PTHR12917:SF15	DDI1, DNA-damage inducible 1, homolog 1				ENSP00000302805		1-Jan									COSM2150640,COSM2150641	1-Jan	.		ENST00000302259	Transcript			proteolysis		aspartic-type endopeptidase activity	ENSG00000170967	g.chr11:103908056A>C	18961			MODERATE		1.3	low	getma.org/?cm=msa&ty=f&p=DDI1_HUMAN&rb=80&re=219&var=E169A	NA	getma.org/?cm=var&var=hg19,11,103908056,A,C&fts=all	E169A	--	--	1																																		PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	1,1	1		benign(0.034)	p.E169A	NM_001001711	NP_001001711		deleterious(0.01)	1,1	DDI1_HUMAN	DDI1	HGNC	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)			1	749	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	UPI0000047AEA	169					SNV	DDI1,missense_variant,p.Glu169Ala,ENST00000302259,NM_001001711.2;PDGFD,intron_variant,,ENST00000302251,NM_025208.4,NM_033135.3;PDGFD,intron_variant,,ENST00000393158,;PDGFD,upstream_gene_variant,,ENST00000529268,;	uc001phr.2	c.506A>C	749/2615	3	3			c.506A>C						11	SNP	c.(505-507)GAA>GCA	55	55			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5	Broad	DDI1, DNA-damage inducible 1, homolog 1			103908056		0.602	ENSG00000170967	4252	g.chr11:103908056A>C	proteolysis		aspartic-type endopeptidase activity							89.292203	KEEP	16	22	-1	62	90	16	22	-1	103.705933	62	90	0.196429	1	0	0	0	0	1	0	0	0	--	--		0	C			PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	44	GBM-06-0192-TP	p.E169A	A	CCCTTGGCGGAAGCCCTGCTC	NM_001001711	NP_001001711	103908056	Q8WTU0	DDI1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	749	+	C	C		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	Missense_Mutation	169						
DDI1	0	broad.mit.edu	GRCh37	11	103908142	103908142	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-28-2513-01	TCGA-28-2513-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302259.3:c.592C>G	p.Leu198Val	p.L198V	ENST00000302259	NM_001001711.2	198	Ctt/Gtt	0			1			G	L/V	uc001phr.2	protein_coding	YES	CCDS31660.1			592/1191									large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5	c.(592-594)CTT>GTT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12917,hmmpanther:PTHR12917:SF15	DDI1, DNA-damage inducible 1, homolog 1				ENSP00000302805		1-Jan									COSM3397369,COSM3397368	1-Jan	.		ENST00000302259	Transcript			proteolysis		aspartic-type endopeptidase activity	ENSG00000170967	g.chr11:103908142C>G	18961			MODERATE		2.28	medium	getma.org/?cm=msa&ty=f&p=DDI1_HUMAN&rb=80&re=219&var=L198V	NA	getma.org/?cm=var&var=hg19,11,103908142,C,G&fts=all	L198V	--	--	1																																		PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	1,1	1		benign(0.009)	p.L198V	NM_001001711	NP_001001711		tolerated(0.12)	1,1	DDI1_HUMAN	DDI1	HGNC	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)			1	835	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	UPI0000047AEA	198					SNV	DDI1,missense_variant,p.Leu198Val,ENST00000302259,NM_001001711.2;PDGFD,intron_variant,,ENST00000302251,NM_025208.4,NM_033135.3;PDGFD,intron_variant,,ENST00000393158,;PDGFD,upstream_gene_variant,,ENST00000529268,;	uc001phr.2	c.592C>G	835/2615	3	3			c.592C>G						11	SNP	c.(592-594)CTT>GTT	1	1			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5	Broad	DDI1, DNA-damage inducible 1, homolog 1			103908142		0.522	ENSG00000170967	4252	g.chr11:103908142C>G	proteolysis		aspartic-type endopeptidase activity							46.623569	KEEP	14	6	-1	40	42	14	6	-1	53.245231	40	42	0.215909	1	0	0	0	0	1	0	0	0	--	--		0	G			PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	213	GBM-28-2513-TP	p.L198V	C	GCAAGAGAGGCTTCGTCTCTA	NM_001001711	NP_001001711	103908142	Q8WTU0	DDI1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	835	+	G	G		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	Missense_Mutation	198						
DDI1	414301		GRCh37	11	103908618	103908618	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000302259.3:c.1068G>A	p.Thr356=	p.T356=	ENST00000302259	NM_001001711.2	356	acG/acA	0																																																																																																																																																																																																																																												
DDI2	0	broad.mit.edu	GRCh37	1	15978327	15978327	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000480945.1:c.1120C>A	p.Arg374=	p.R374=	ENST00000480945	NM_032341.4	374	Cgg/Agg	0			1			A	R	uc001awx.1	protein_coding	YES	CCDS30607.1			1120/1200										0	c.(1120-1122)CGG>AGG			hmmpanther:PTHR12917:SF13,hmmpanther:PTHR12917	DNA-damage inducible protein 2				ENSP00000417748		10-Aug									COSM3399875	10-Aug	.		ENST00000480945	Transcript			proteolysis		aspartic-type endopeptidase activity	ENSG00000197312	g.chr1:15978327C>A	24578			LOW								--	--	1																																		DDI2_uc009voj.1_Silent_p.R115R	1	1			p.R374R	NM_032341	NP_115717			1	DDI2_HUMAN	DDI2	HGNC	Q5TDH0	DDI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)			8	1216	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	UPI0000470AD7	374					SNV	DDI2,synonymous_variant,p.=,ENST00000480945,NM_032341.4;DDI2,3_prime_UTR_variant,,ENST00000320153,;DDI2,upstream_gene_variant,,ENST00000548451,;DDI2,downstream_gene_variant,,ENST00000483899,;	uc001awx.1	c.1120C>A	1291/10625	1	1			c.1120C>A						1	SNP	c.(1120-1122)CGG>AGG	54	54				0	Broad	DNA-damage inducible protein 2			15978327		0.512	ENSG00000197312	4253	g.chr1:15978327C>A	proteolysis		aspartic-type endopeptidase activity							-3.423227	KEEP	2	2	0.5	25	37	2	2	0.5	8.352102	25	37	0.053571	1	0	0	0	0	0	0	1	0	--	--		0	A			DDI2_uc009voj.1_Silent_p.R115R	160	GBM-19-1790-TP	p.R374R	C	AGAGGATGTACGGCCAGAGGA	NM_032341	NP_115717	15978327	Q5TDH0	DDI2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	8	1216	+	A	A		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	Silent	374						
DDN	0	broad.mit.edu	GRCh37	12	49391285	49391285	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6701-01	TCGA-06-6701-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000421952.2:c.1374G>A	p.Thr458=	p.T458=	ENST00000421952	NM_015086.1	458	acG/acA	0			1			T	T	uc001rsv.1	protein_coding	YES	CCDS31791.2			1374/2136									large_intestine(1)	1	c.(1372-1374)ACG>ACA			Pfam_domain:PF15498,hmmpanther:PTHR16757	dendrin				ENSP00000390590		2-Feb									COSM3398763,COSM3398762	2-Feb	.		ENST00000421952	Transcript				dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		ENSG00000181418	g.chr12:49391285C>T	24458			LOW								--	--	1																																		uc001rsw.2_5'Flank	1,1	1			p.T458T	NM_015086	NP_055901			1,1	DEND_HUMAN	DDN	HGNC	O94850	DEND_HUMAN					2	1392	-			UPI000019821C	458			Interaction with CD2AP and NPHS1 (By similarity).		SNV	DDN,synonymous_variant,p.=,ENST00000421952,NM_015086.1;PRKAG1,downstream_gene_variant,,ENST00000548065,;PRKAG1,downstream_gene_variant,,ENST00000395170,NM_002733.4;PRKAG1,downstream_gene_variant,,ENST00000316299,NM_001206709.1;PRKAG1,downstream_gene_variant,,ENST00000547306,;PRKAG1,downstream_gene_variant,,ENST00000548362,;RP11-386G11.5,upstream_gene_variant,,ENST00000547866,;RP11-386G11.5,upstream_gene_variant,,ENST00000552933,;RP11-386G11.5,upstream_gene_variant,,ENST00000552284,;RP11-386G11.5,upstream_gene_variant,,ENST00000547395,;RP11-386G11.3,downstream_gene_variant,,ENST00000549516,;PRKAG1,downstream_gene_variant,,ENST00000546531,;	uc001rsv.1	c.1374G>A	1396/3749	1	1			c.1374G>A						12	SNP	c.(1372-1374)ACG>ACA	2	2			large_intestine(1)	1	Broad	dendrin			49391285		0.642	ENSG00000181418	4257	g.chr12:49391285C>T		dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon								34.664953	KEEP	13	10	-1	47	42	13	10	-1	42.830718	47	42	0.197917	1	0	0	0	0	0	0	1	0	--	--		0	T			uc001rsw.2_5'Flank	115	GBM-06-6701-TP	p.T458T	C	TCACTACGCACGTGGCGTCAA	NM_015086	NP_055901	49391285	O94850	DEND_HUMAN	0			2	1392	-	T	T			Silent	458			Interaction with CD2AP and NPHS1 (By similarity).			
DDR2	0	broad.mit.edu	GRCh37	1	162749984	162749984	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01	TCGA-12-0615-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367921.3:c.2516G>A	p.Arg839His	p.R839H	ENST00000367921	NM_006182.2	839	cGt/cAt	0			1			A	R/H	uc001gcf.2	protein_coding		CCDS1241.1			2516/2568									lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	c.(2515-2517)CGT>CAT			Gene3D:1.10.510.10,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF297,SMART_domains:SM00219,Superfamily_domains:SSF56112	discoidin domain receptor family, member 2				ENSP00000356898		18/18									COSM1559271,COSM1559270	18/18	.		ENST00000367921	Transcript	1		cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	ENSG00000162733	g.chr1:162749984G>A	2731			MODERATE		4.74	high	getma.org/?cm=msa&ty=f&p=DDR2_HUMAN&rb=563&re=849&var=R839H	getma.org/pdb.php?prot=DDR2_HUMAN&from=563&to=849&var=R839H	getma.org/?cm=var&var=hg19,1,162749984,G,A&fts=all	R839H	--	--	1																																		DDR2_uc001gcg.2_Missense_Mutation_p.R839H|uc001gch.1_5'Flank	1,1			probably_damaging(1)	p.R839H	NM_001014796	NP_001014796		deleterious(0)	1,1	DDR2_HUMAN	DDR2	HGNC	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		Q5T245_HUMAN,Q5T244_HUMAN		19	2981	+	all_hematologic(112;0.115)		UPI000013E1B4	839			Cytoplasmic (Potential).|Protein kinase.		SNV	DDR2,missense_variant,p.Arg839His,ENST00000367922,NM_001014796.1;DDR2,missense_variant,p.Arg839His,ENST00000367921,NM_006182.2;RN7SL861P,downstream_gene_variant,,ENST00000473793,;	uc001gcf.2	c.2516G>A	2869/3096	2	2			c.2516G>A						1	SNP	c.(2515-2517)CGT>CAT	26	26			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	Broad	discoidin domain receptor family, member 2			162749984		0.498	ENSG00000162733	4261	g.chr1:162749984G>A	cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	NSCLC(161;314 2006 8283 19651 23192)		497	NSCLC(161;314 2006 8283 19651 23192)		497	760.186203	KEEP	117	135	-1	87	84	117	135	-1	763.417229	87	84	0.59601	1	0	0	0	0	1	0	0	0	--	--		0	A			DDR2_uc001gcg.2_Missense_Mutation_p.R839H|uc001gch.1_5'Flank	117	GBM-12-0615-TP	p.R839H	G	ACGAAGAACCGTCCCTCATTC	NM_001014796	NP_001014796	162749984	Q16832	DDR2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.113)		19	2981	+	A	A	all_hematologic(112;0.115)		Missense_Mutation	839			Cytoplasmic (Potential).|Protein kinase.			
DDX10	0	broad.mit.edu	GRCh37	11	108788635	108788637	+	inframe_deletion	In_Frame_Del	DEL	TGA	TGA	-			TCGA-26-5133-01	TCGA-26-5133-01	TGA	TGA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322536.3:c.2363_2365delATG	p.Asp788del	p.D788del	ENST00000322536	NM_004398.2	780	agTGAt/agt	0			1			-	SD/S	uc001pkm.2	protein_coding	YES	CCDS8342.1			2340-2342/2628	T		NUP98		AML*				breast(2)|lung(1)|prostate(1)	4	c.(2338-2343)AGTGAT>AGT			Low_complexity_(Seg):seg	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10				ENSP00000314348		17/18									rs756833840,TMP_ESP_11_108788635_108788637,COSM1721800	17/18	.		ENST00000322536	Transcript					ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	ENSG00000178105	g.chr11:108788635_108788637delTGA	2735	23		MODERATE								--	--	1																																		DDX10_uc001pkl.1_In_Frame_Del_p.D788del	0,0,1	1			p.D788del	NM_004398	NP_004389			0,0,1	DDX10_HUMAN	DDX10	HGNC	Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)			17	2405_2407	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	UPI0000140E62	788					deletion	DDX10,inframe_deletion,p.Asp788del,ENST00000526794,;DDX10,inframe_deletion,p.Asp788del,ENST00000322536,NM_004398.2;DDX10,non_coding_transcript_exon_variant,,ENST00000524979,;DDX10,non_coding_transcript_exon_variant,,ENST00000530116,;	uc001pkm.2	c.2340_2342delTGA	2469-2471/3264	5	5			c.2340_2342delTGA	T		NUP98		AML*	11	DEL	c.(2338-2343)AGTGAT>AGT	55	55			breast(2)|lung(1)|prostate(1)	4	Broad	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			108788637		0.31	ENSG00000178105	4265	g.chr11:108788635_108788637delTGA			ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			268			268														0.05	1	1	0	1	0	0	0	0	0	--	--		0	-			DDX10_uc001pkl.1_In_Frame_Del_p.D788del	182	GBM-26-5133-TP	p.D788del	TGA	TGGATTGGAGtgatgatgatgat	NM_004398	NP_004389	108788635	Q13206	DDX10_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	17	2405_2407	+	-	-		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	In_Frame_Del	788						
DDX11	1663	broad.mit.edu	GRCh37	12	31236988	31236988	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-5412-01	TCGA-06-5412-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000407793.2:c.386G>T	p.Arg129Leu	p.R129L	ENST00000407793	NM_030653.3	129	cGa/cTa	0			1			T	R/L	uc001rjt.1	protein_coding		CCDS44856.1			386/2913									breast(3)	3	c.(385-387)CGA>CTA			Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51193,hmmpanther:PTHR11472,hmmpanther:PTHR11472:SF35,SMART_domains:SM00488	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11				ENSP00000440402		27-Mar									COSM3398659,COSM3398660,COSM3398658	27-Mar	.		ENST00000545668	Transcript	1		G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	ENSG00000013573	g.chr12:31236988G>T	2736			MODERATE		2.31	medium	getma.org/?cm=msa&ty=f&p=DDX12_HUMAN&rb=28&re=464&var=R148L	NA	getma.org/?cm=var&var=hg19,12,31236988,G,T&fts=all	R148L	--	--	1				Multiple Myeloma(12;0.14)																														DDX11_uc010sjw.1_Missense_Mutation_p.R129L|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Missense_Mutation_p.R129L|DDX11_uc001rjs.1_Missense_Mutation_p.R129L|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.R129L|DDX11_uc001rjw.1_Missense_Mutation_p.R103L	1,1,1			possibly_damaging(0.828)	p.R129L	NM_152438	NP_689651		deleterious(0.01)	1,1,1	DDX11_HUMAN	DDX11	HGNC	Q96FC9	DDX11_HUMAN			F5GXJ8_HUMAN		3	637	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		UPI000006F88F	129			Helicase ATP-binding.		SNV	DDX11,missense_variant,p.Arg129Leu,ENST00000251758,;DDX11,missense_variant,p.Arg129Leu,ENST00000407793,NM_030653.3,NM_152438.1;DDX11,missense_variant,p.Arg129Leu,ENST00000545668,NM_001257144.1;DDX11,missense_variant,p.Arg129Leu,ENST00000350437,NM_004399.2;DDX11,missense_variant,p.Arg103Leu,ENST00000228264,NM_001257145.1;DDX11,missense_variant,p.Arg129Leu,ENST00000542838,;DDX11,missense_variant,p.Arg129Leu,ENST00000438391,;DDX11,missense_variant,p.Arg103Leu,ENST00000415475,;DDX11,missense_variant,p.Arg165Leu,ENST00000535317,;DDX11,missense_variant,p.Arg87Leu,ENST00000544652,;DDX11,missense_variant,p.Arg129Leu,ENST00000435753,;DDX11,missense_variant,p.Arg129Leu,ENST00000539049,;DDX11,missense_variant,p.Arg129Leu,ENST00000542129,;DDX11,missense_variant,p.Arg103Leu,ENST00000540935,;DDX11,missense_variant,p.Arg129Leu,ENST00000542244,;DDX11,missense_variant,p.Asp78Tyr,ENST00000543756,;DDX11,non_coding_transcript_exon_variant,,ENST00000536265,;DDX11,non_coding_transcript_exon_variant,,ENST00000535158,;DDX11,intron_variant,,ENST00000538345,;DDX11,upstream_gene_variant,,ENST00000543026,;DDX11,upstream_gene_variant,,ENST00000542242,;	uc001rjt.1	c.386G>T	466/3751	1	1			c.386G>T						12	SNP	c.(385-387)CGA>CTA	11	11			breast(3)	3	Broad	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11			31236988		0.587	ENSG00000013573	4266	g.chr12:31236988G>T	G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding							4.773881	KEEP	8	11	0.421052632	87	115	8	11	0.421052632	35.521051	87	115	0.092391	1	0	0	0	0	1	0	0	0	--	--	Multiple Myeloma(12;0.14)	0	T			DDX11_uc010sjw.1_Missense_Mutation_p.R129L|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Missense_Mutation_p.R129L|DDX11_uc001rjs.1_Missense_Mutation_p.R129L|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.R129L|DDX11_uc001rjw.1_Missense_Mutation_p.R103L	95	GBM-06-5412-TP	p.R129L	G	CTGGTGGACCGACTAAAGGTG	NM_152438	NP_689651	31236988	Q96FC9	DDX11_HUMAN	0			3	637	+	T	T	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		Missense_Mutation	129			Helicase ATP-binding.			
DDX11	1663		GRCh37	12	31255360	31255360	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000407793.2:c.2272-1G>T		p.X758_splice	ENST00000407793	NM_030653.3	758		0																																																																																																																																																																																																																																												
DDX17	0	broad.mit.edu	GRCh37	22	38890068	38890069	+	frameshift_variant	Frame_Shift_Del	DEL	TT	TT	-			TCGA-19-2629-01	TCGA-19-2629-01	TT	TT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000403230.1:c.1282_1283delAA	p.Lys428GlufsTer4	p.K428Efs*4	ENST00000403230		428	AAg/g	0			1			-	K/X	uc003avy.3	protein_coding		CCDS33646.1			1282-1283/2190									skin(3)|upper_aerodigestive_tract(1)	4	c.(1282-1284)AAGfs			Gene3D:3.40.50.300,PROSITE_profiles:PS51194,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF219,Superfamily_domains:SSF52540	DEAD box polypeptide 17 isoform 3				ENSP00000385536		13-Sep										13-Sep	.		ENST00000403230	Transcript			RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	ENSG00000100201	g.chr22:38890068_38890069delTT	2740			HIGH								--	--	1																																		DDX17_uc003avx.3_Frame_Shift_Del_p.K428fs|DDX17_uc011anu.1_Frame_Shift_Del_p.K341fs					p.K428fs	NM_001098504	NP_001091974				DDX17_HUMAN	DDX17	HGNC	Q92841	DDX17_HUMAN			G5E9L5_HUMAN		9	1385_1386	-	Melanoma(58;0.0286)		UPI00003670EA	349			Helicase C-terminal.		deletion	DDX17,frameshift_variant,p.Lys428GlufsTer4,ENST00000396821,NM_006386.4,NM_001098504.1;DDX17,frameshift_variant,p.Lys349GlufsTer4,ENST00000381633,;DDX17,frameshift_variant,p.Lys428GlufsTer4,ENST00000403230,;DDX17,non_coding_transcript_exon_variant,,ENST00000432525,;DDX17,downstream_gene_variant,,ENST00000467279,;DDX17,upstream_gene_variant,,ENST00000475004,;DDX17,non_coding_transcript_exon_variant,,ENST00000216019,;DDX17,non_coding_transcript_exon_variant,,ENST00000497196,;DDX17,downstream_gene_variant,,ENST00000477112,;	uc003avy.3	c.1282_1283delAA	1357-1358/2322	5	5			c.1282_1283delAA						22	DEL	c.(1282-1284)AAGfs	33	33			skin(3)|upper_aerodigestive_tract(1)	4	Broad	DEAD box polypeptide 17 isoform 3			38890069		0.386	ENSG00000100201	4267	g.chr22:38890068_38890069delTT	RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	Ovarian(55;1085 1454 6392 21425)			Ovarian(55;1085 1454 6392 21425)																0.13	1	1	0	1	0	0	0	0	0	--	--		0	-			DDX17_uc003avx.3_Frame_Shift_Del_p.K428fs|DDX17_uc011anu.1_Frame_Shift_Del_p.K341fs	166	GBM-19-2629-TP	p.K428fs	TT	ACAGCGTCTCTTTGTCTCCACA	NM_001098504	NP_001091974	38890068	Q92841	DDX17_HUMAN	0			9	1385_1386	-	-	-	Melanoma(58;0.0286)		Frame_Shift_Del	349			Helicase C-terminal.			
DDX17	0	broad.mit.edu	GRCh37	22	38883964	38883964	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-5207-01	TCGA-28-5207-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000403230.1:c.1604A>G	p.Lys535Arg	p.K535R	ENST00000403230		535	aAa/aGa	0			1			C	K/R	uc003avy.3	protein_coding		CCDS33646.1			1604/2190									skin(3)|upper_aerodigestive_tract(1)	4	c.(1603-1605)AAA>AGA			Gene3D:3.40.50.300,PROSITE_profiles:PS51194,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF219	DEAD box polypeptide 17 isoform 3				ENSP00000385536		13-Dec									COSM3405669,COSM3405670	13-Dec	.		ENST00000403230	Transcript			RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	ENSG00000100201	g.chr22:38883964T>C	2740			MODERATE		1.125	low	getma.org/?cm=msa&ty=f&p=DDX17_HUMAN&rb=405&re=552&var=K535R	getma.org/pdb.php?prot=DDX17_HUMAN&from=405&to=552&var=K535R	getma.org/?cm=var&var=hg19,22,38883964,T,C&fts=all	K535R	--	--	1																																		DDX17_uc003avw.3_5'UTR|DDX17_uc010gxp.2_5'UTR|DDX17_uc003avx.3_Missense_Mutation_p.K535R	1,1			benign(0.012)	p.K535R	NM_001098504	NP_001091974		tolerated(0.21)	1,1	DDX17_HUMAN	DDX17	HGNC	Q92841	DDX17_HUMAN			G5E9L5_HUMAN		12	1707	-	Melanoma(58;0.0286)		UPI00003670EA	456			Helicase C-terminal.		SNV	DDX17,missense_variant,p.Lys535Arg,ENST00000396821,NM_006386.4,NM_001098504.1;DDX17,missense_variant,p.Lys458Arg,ENST00000381633,;DDX17,missense_variant,p.Lys535Arg,ENST00000403230,;DDX17,5_prime_UTR_variant,,ENST00000444597,;KDELR3,downstream_gene_variant,,ENST00000216014,NM_006855.3;DDX17,downstream_gene_variant,,ENST00000432525,;DDX17,downstream_gene_variant,,ENST00000475004,;DDX17,non_coding_transcript_exon_variant,,ENST00000216019,;DDX17,non_coding_transcript_exon_variant,,ENST00000431312,;	uc003avy.3	c.1604A>G	1679/2322	3	3			c.1604A>G						22	SNP	c.(1603-1605)AAA>AGA	2	2			skin(3)|upper_aerodigestive_tract(1)	4	Broad	DEAD box polypeptide 17 isoform 3			38883964		0.547	ENSG00000100201	4267	g.chr22:38883964T>C	RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	Ovarian(55;1085 1454 6392 21425)			Ovarian(55;1085 1454 6392 21425)			29.960458	KEEP	10	13	-1	94	88	10	13	-1	59.128556	94	88	0.10582	1	0	0	0	0	1	0	0	0	--	--		0	C			DDX17_uc003avw.3_5'UTR|DDX17_uc010gxp.2_5'UTR|DDX17_uc003avx.3_Missense_Mutation_p.K535R	216	GBM-28-5207-TP	p.K535R	T	TTCCAGCACTTTGATAAGCTC	NM_001098504	NP_001091974	38883964	Q92841	DDX17_HUMAN	0			12	1707	-	C	C	Melanoma(58;0.0286)		Missense_Mutation	456			Helicase C-terminal.			
DDX18	8886	broad.mit.edu	GRCh37	2	118587005	118587005	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-0648-01	TCGA-06-0648-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263239.2:c.1833G>T	p.Leu611=	p.L611=	ENST00000263239	NM_006773.3	611	ctG/ctT	0			1			T	L	uc002tlh.1	protein_coding	YES	CCDS2120.1			1833/2013									breast(2)|ovary(1)|lung(1)	4	c.(1831-1833)CTG>CTT			hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF171,Pfam_domain:PF13959	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18				ENSP00000263239		13/14									COSM3406816	13/14	.		ENST00000263239	Transcript					ATP binding|ATP-dependent RNA helicase activity|RNA binding	ENSG00000088205	g.chr2:118587005G>T	2741			LOW								--	--	1																																			1	1			p.L611L	NM_006773	NP_006764			1	DDX18_HUMAN	DDX18	HGNC	Q9NVP1	DDX18_HUMAN			Q53TI6_HUMAN,Q4ZG72_HUMAN		13	1932	+			UPI000012907E	611					SNV	DDX18,synonymous_variant,p.=,ENST00000263239,NM_006773.3;DDX18,downstream_gene_variant,,ENST00000415038,;AC009404.2,upstream_gene_variant,,ENST00000420330,;DDX18,downstream_gene_variant,,ENST00000474694,;DDX18,non_coding_transcript_exon_variant,,ENST00000476149,;DDX18,downstream_gene_variant,,ENST00000461443,;	uc002tlh.1	c.1833G>T	1961/3796	1	1			c.1833G>T						2	SNP	c.(1831-1833)CTG>CTT	4	4			breast(2)|ovary(1)|lung(1)	4	Broad	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18			118587005		0.403	ENSG00000088205	4268	g.chr2:118587005G>T			ATP binding|ATP-dependent RNA helicase activity|RNA binding							-71.611447	KEEP	1	5	0.166666667	180	161	1	5	0.166666667	9.408781	180	161	0.01634	1	0	0	0	0	0	0	1	0	--	--		0	T				61	GBM-06-0648-TP	p.L611L	G	AGGTTGCTCTGTCATTTGGTT	NM_006773	NP_006764	118587005	Q9NVP1	DDX18_HUMAN	0			13	1932	+	T	T			Silent	611						
DDX18	8886		GRCh37	2	118587017	118587017	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000263239.2:c.1845C>A	p.Phe615Leu	p.F615L	ENST00000263239	NM_006773.3	615	ttC/ttA	0																																																																																																																																																																																																																																												
DDX25	0	broad.mit.edu	GRCh37	11	125788549	125788549	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-2509-01	TCGA-28-2509-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263576.6:c.1065C>T	p.Thr355=	p.T355=	ENST00000263576	NM_013264.4	355	acC/acT	0			1			T	T	uc001qcz.3	protein_coding	YES	CCDS44766.1			1065/1452									ovary(1)	1	c.(1063-1065)ACC>ACT			Superfamily_domains:SSF52540,SMART_domains:SM00490,Gene3D:3.40.50.300,hmmpanther:PTHR24031:SF193,hmmpanther:PTHR24031,PROSITE_profiles:PS51194	DEAD (Asp-Glu-Ala-Asp) box polypeptide 25				ENSP00000263576		12-Oct									COSM3397528,COSM3397527	12-Oct	.		ENST00000263576	Transcript			mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding	ENSG00000109832	g.chr11:125788549C>T	18698			LOW								--	--	1																																		DDX25_uc010sbk.1_Silent_p.T355T	1,1	1			p.T355T	NM_013264	NP_037396			1,1	DDX25_HUMAN	DDX25	HGNC	Q9UHL0	DDX25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)	B4YF11_HUMAN,B1NSN7_HUMAN		10	1206	+	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	UPI000018CE78	355			Helicase C-terminal.		SNV	DDX25,synonymous_variant,p.=,ENST00000530414,;DDX25,synonymous_variant,p.=,ENST00000263576,NM_013264.4;DDX25,synonymous_variant,p.=,ENST00000526875,;RP11-680F20.9,intron_variant,,ENST00000533033,;DDX25,non_coding_transcript_exon_variant,,ENST00000525943,;DDX25,upstream_gene_variant,,ENST00000531000,;DDX25,upstream_gene_variant,,ENST00000532928,;DDX25,upstream_gene_variant,,ENST00000584970,;	uc001qcz.3	c.1065C>T	1220/1836	2	2			c.1065C>T						11	SNP	c.(1063-1065)ACC>ACT	42	42			ovary(1)	1	Broad	DEAD (Asp-Glu-Ala-Asp) box polypeptide 25			125788549		0.512	ENSG00000109832	4275	g.chr11:125788549C>T	mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding							63.963862	KEEP	9	15	-1	20	19	9	15	-1	64.73097	20	19	0.375	1	0	0	0	0	0	0	1	0	--	--		0	T			DDX25_uc010sbk.1_Silent_p.T355T	211	GBM-28-2509-TP	p.T355T	C	AGTGGTTGACCGTGGAGATGA	NM_013264	NP_037396	125788549	Q9UHL0	DDX25_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)	10	1206	+	T	T	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	Silent	355			Helicase C-terminal.			
DDX26B	0	broad.mit.edu	GRCh37	X	134714081	134714081	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0216-01	TCGA-06-0216-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370752.4:c.2377G>C	p.Gly793Arg	p.G793R	ENST00000370752	NM_182540.4	793	Ggt/Cgt	0			1			C	G/R	uc004eyw.3	protein_coding	YES	CCDS35401.1			2377/2586										0	c.(2377-2379)GGT>CGT			hmmpanther:PTHR12957:SF22,hmmpanther:PTHR12957,Pfam_domain:PF15300	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide				ENSP00000359788		15/17									COSM2150887	15/17	.		ENST00000370752	Transcript						ENSG00000165359	g.chrX:134714081G>C	27334			MODERATE		2.675	medium	getma.org/?cm=msa&ty=f&p=DX26B_HUMAN&rb=624&re=823&var=G793R	NA	getma.org/?cm=var&var=hg19,X,134714081,G,C&fts=all	G793R	--	--	1																																		DDX26B_uc004eyx.3_Missense_Mutation_p.G394R	1	1		probably_damaging(0.997)	p.G793R	NM_182540	NP_872346		deleterious(0)	1	DX26B_HUMAN	DDX26B	HGNC	Q5JSJ4	DX26B_HUMAN					15	2740	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI00004A3AAF	793					SNV	DDX26B,missense_variant,p.Gly793Arg,ENST00000370752,NM_182540.4;DDX26B,non_coding_transcript_exon_variant,,ENST00000481908,;DDX26B,non_coding_transcript_exon_variant,,ENST00000481429,;DDX26B,non_coding_transcript_exon_variant,,ENST00000494957,;DDX26B,non_coding_transcript_exon_variant,,ENST00000493637,;RP11-432N13.2,downstream_gene_variant,,ENST00000439300,;	uc004eyw.3	c.2377G>C	2711/3793	3	3			c.2377G>C						23	SNP	c.(2377-2379)GGT>CGT	61	61				0	Broad	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide			134714081		0.373	ENSG00000165359	4276	g.chrX:134714081G>C										126.67731	KEEP	38	8	-1	14	24	38	8	-1	126.918054	14	24	0.561644	1	0	0	0	0	1	0	0	0	--	--		0	C			DDX26B_uc004eyx.3_Missense_Mutation_p.G394R	51	GBM-06-0216-TP	p.G793R	G	TCGAAAGTTTGGTCGAAGTAA	NM_182540	NP_872346	134714081	Q5JSJ4	DX26B_HUMAN	0			15	2740	+	C	C	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	793						
DDX26B	0	broad.mit.edu	GRCh37	X	134655171	134655171	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-2509-01	TCGA-28-2509-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370752.4:c.117C>T	p.Arg39=	p.R39=	ENST00000370752	NM_182540.4	39	cgC/cgT	0			1			T	R	uc004eyw.3	protein_coding	YES	CCDS35401.1			117/2586										0	c.(115-117)CGC>CGT			PROSITE_profiles:PS50234,hmmpanther:PTHR12957:SF22,hmmpanther:PTHR12957,Gene3D:3.40.50.410,Pfam_domain:PF13519,Superfamily_domains:SSF53300	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide				ENSP00000359788		17-Feb	1.65E-05							0.00014	rs782778650,COSM3405986,COSM3405985	17-Feb	.		ENST00000370752	Transcript						ENSG00000165359	g.chrX:134655171C>T	27334			LOW								--	--	1																																			0,1,1	1			p.R39R	NM_182540	NP_872346			0,1,1	DX26B_HUMAN	DDX26B	HGNC	Q5JSJ4	DX26B_HUMAN					2	480	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI00004A3AAF	39			VWFA.		SNV	DDX26B,synonymous_variant,p.=,ENST00000370752,NM_182540.4;DDX26B-AS1,upstream_gene_variant,,ENST00000430820,;DDX26B,non_coding_transcript_exon_variant,,ENST00000481908,;DDX26B,non_coding_transcript_exon_variant,,ENST00000493637,;	uc004eyw.3	c.117C>T	451/3793	2	2			c.117C>T						23	SNP	c.(115-117)CGC>CGT	32	32				0	Broad	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide			134655171		0.632	ENSG00000165359	4276	g.chrX:134655171C>T										18.115861	KEEP	4	3	-1	10	9	4	3	-1	18.90173	10	9	0.304348	1	0	0	0	0	0	0	1	0	--	--		0	T				211	GBM-28-2509-TP	p.R39R	C	CGCAGCTGCGCGCCCGGGACC	NM_182540	NP_872346	134655171	Q5JSJ4	DX26B_HUMAN	0			2	480	+	T	T	Acute lymphoblastic leukemia(192;6.56e-05)		Silent	39			VWFA.			
DDX26B	0	broad.mit.edu	GRCh37	X	134681139	134681139	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370752.4:c.691G>A	p.Val231Ile	p.V231I	ENST00000370752	NM_182540.4	231	Gta/Ata	0			1			A	V/I	uc004eyw.3	protein_coding	YES	CCDS35401.1			691/2586										0	c.(691-693)GTA>ATA			hmmpanther:PTHR12957:SF22,hmmpanther:PTHR12957	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide				ENSP00000359788		17-Jun									COSM3405988,COSM3405987	17-Jun	.		ENST00000370752	Transcript						ENSG00000165359	g.chrX:134681139G>A	27334			MODERATE		1.715	low	getma.org/?cm=msa&ty=f&p=DX26B_HUMAN&rb=224&re=423&var=V231I	NA	getma.org/?cm=var&var=hg19,X,134681139,G,A&fts=all	V231I	--	--	1																																			1,1	1		benign(0.112)	p.V231I	NM_182540	NP_872346		deleterious(0.02)	1,1	DX26B_HUMAN	DDX26B	HGNC	Q5JSJ4	DX26B_HUMAN					6	1054	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI00004A3AAF	231					SNV	DDX26B,missense_variant,p.Val231Ile,ENST00000370752,NM_182540.4;DDX26B,non_coding_transcript_exon_variant,,ENST00000481908,;DDX26B,non_coding_transcript_exon_variant,,ENST00000493637,;	uc004eyw.3	c.691G>A	1025/3793	1	1			c.691G>A						23	SNP	c.(691-693)GTA>ATA	53	53				0	Broad	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide			134681139		0.338	ENSG00000165359	4276	g.chrX:134681139G>A										130.740242	KEEP	43	39	-1	229	240	43	39	-1	186.846537	229	240	0.155556	1	0	0	0	0	1	0	0	0	--	--		0	A				213	GBM-28-2513-TP	p.V231I	G	TCAGAGTGGTGTAGTTATTAA	NM_182540	NP_872346	134681139	Q5JSJ4	DX26B_HUMAN	0			6	1054	+	A	A	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	231						
DDX31	0	broad.mit.edu	GRCh37	9	135470499	135470500	+	splice_acceptor_variant,coding_sequence_variant	Splice_Site	DEL	CC	CC	-			TCGA-26-5132-01	TCGA-26-5132-01	CC	CC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372153.1:c.2091-1_2091delGG		p.X697_splice	ENST00000372153				0			1			-		uc004cbq.1	protein_coding					?-2091/2337									central_nervous_system(1)	1	c.e20-1				DEAD (Asp-Glu-Ala-Asp) box polypeptide 31				ENSP00000361226		18/18									COSM2156928	18/18	.		ENST00000372153	Transcript				nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	ENSG00000125485	g.chr9:135470499_135470500delCC	16715			HIGH	17/17							--	--	1																																		DDX31_uc010mzu.1_Splice_Site_p.R697_splice	1				p.R770_splice	NM_022779	NP_073616			1	DDX31_HUMAN	DDX31	HGNC	Q9H8H2	DDX31_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)			20	2462	-			UPI0000551C77						deletion	DDX31,splice_acceptor_variant,,ENST00000372159,NM_022779.7;DDX31,splice_acceptor_variant,,ENST00000372153,;DDX31,splice_acceptor_variant,,ENST00000438527,;BARHL1,downstream_gene_variant,,ENST00000263610,NM_020064.3;DDX31,splice_acceptor_variant,,ENST00000372155,;	uc004cbq.1	c.2310_splice	?-2243/3066	5	5			c.2310_splice						9	DEL	c.e20-1	33	33			central_nervous_system(1)	1	Broad	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31			135470500		0.46	ENSG00000125485	4279	g.chr9:135470499_135470500delCC		nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding																				0.39	1	1	0	1	0	0	0	0	1	--	--		0	-			DDX31_uc010mzu.1_Splice_Site_p.R697_splice	181	GBM-26-5132-TP	p.R770_splice	CC	GAAGGTCAGGCCTGAAGAACAG	NM_022779	NP_073616	135470499	Q9H8H2	DDX31_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)	20	2462	-	-	-			Splice_Site							
DDX39B	7919	broad.mit.edu	GRCh37	6	31504445	31504445	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs75750725		TCGA-06-0881-01	TCGA-06-0881-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396172.1:c.448G>T	p.Gly150Cys	p.G150C	ENST00000396172	NM_004640.6	150	Ggt/Tgt	0			1			A	G/C	uc003ntt.2	protein_coding	YES	CCDS4697.1			448/1287										0	c.(448-450)GGT>TGT			PROSITE_profiles:PS51192,hmmpanther:PTHR24031:SF204,hmmpanther:PTHR24031,Gene3D:3.40.50.300,Pfam_domain:PF00270,SMART_domains:SM00487,Superfamily_domains:SSF52540	HLA-B associated transcript 1				ENSP00000379475		11-May	0.000153				0.000834	3.26E-05			rs75750725,COSM3748328,COSM3748329,COSM3748331,COSM3748330	11-May	common_variant		ENST00000396172	Transcript			intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	ENSG00000198563	g.chr6:31504445C>A	13917			MODERATE		4.395	high	getma.org/?cm=msa&ty=f&p=DX39B_HUMAN&rb=69&re=238&var=G150C	getma.org/pdb.php?prot=DX39B_HUMAN&from=69&to=238&var=G150C	getma.org/?cm=var&var=hg19,6,31504445,C,A&fts=all	G150C	--	--	1																																		BAT1_uc003ntr.2_5'Flank|BAT1_uc003nts.2_Missense_Mutation_p.G150C|BAT1_uc011dnn.1_Missense_Mutation_p.G72C|BAT1_uc003ntu.2_Missense_Mutation_p.G150C|BAT1_uc003ntv.2_Missense_Mutation_p.G150C|BAT1_uc003ntw.2_Missense_Mutation_p.G150C|BAT1_uc003ntx.2_Missense_Mutation_p.G150C|BAT1_uc011dno.1_Missense_Mutation_p.G103C|BAT1_uc011dnp.1_Missense_Mutation_p.G72C|SNORD117_uc003nty.1_5'Flank|BAT1_uc011dnq.1_RNA	0,1,1,1,1	1		probably_damaging(0.929)	p.G150C	NM_004640	NP_004631		deleterious(0.01)	0,1,1,1,1	DX39B_HUMAN	DDX39B	HGNC	Q13838	DX39B_HUMAN			Q7KYK3_HUMAN,F6WLT2_HUMAN,F6UN21_HUMAN,F6U6E2_HUMAN,F6TRA5_HUMAN,F6S4E6_HUMAN,F6QWI5_HUMAN		5	1079	-			UPI0000001D0B	150			Helicase ATP-binding.		SNV	DDX39B,missense_variant,p.Gly165Cys,ENST00000417556,;DDX39B,missense_variant,p.Gly150Cys,ENST00000396172,NM_004640.6;DDX39B,missense_variant,p.Gly150Cys,ENST00000458640,NM_080598.5;DDX39B,missense_variant,p.Gly150Cys,ENST00000376177,;DDX39B,missense_variant,p.Gly72Cys,ENST00000415382,;DDX39B,missense_variant,p.Gly103Cys,ENST00000453105,;DDX39B,missense_variant,p.Gly150Cys,ENST00000427214,;DDX39B,missense_variant,p.Gly150Cys,ENST00000456662,;DDX39B,missense_variant,p.Gly150Cys,ENST00000419338,;DDX39B,missense_variant,p.Gly72Cys,ENST00000431908,;DDX39B,missense_variant,p.Gly150Cys,ENST00000428098,;DDX39B,missense_variant,p.Gly178Cys,ENST00000428450,;DDX39B,missense_variant,p.Gly173Cys,ENST00000449757,;DDX39B,3_prime_UTR_variant,,ENST00000449074,;DDX39B,downstream_gene_variant,,ENST00000456976,;DDX39B,downstream_gene_variant,,ENST00000418897,;DDX39B,downstream_gene_variant,,ENST00000419020,;DDX39B,upstream_gene_variant,,ENST00000417023,;SNORD84,downstream_gene_variant,,ENST00000584275,NR_003065.1;SNORD117,upstream_gene_variant,,ENST00000364915,NR_003140.1;ATP6V1G2-DDX39B,3_prime_UTR_variant,,ENST00000376185,;DDX39B,non_coding_transcript_exon_variant,,ENST00000481456,;DDX39B,non_coding_transcript_exon_variant,,ENST00000462256,;DDX39B,non_coding_transcript_exon_variant,,ENST00000482195,;DDX39B,upstream_gene_variant,,ENST00000474961,;DDX39B,upstream_gene_variant,,ENST00000484566,;ATP6V1G2-DDX39B,downstream_gene_variant,,ENST00000480131,;DDX39B,upstream_gene_variant,,ENST00000478365,;	uc003ntt.2	c.448G>T	1079/2133	1	1			c.448G>T						6	SNP	c.(448-450)GGT>TGT	49	49				0	Broad	HLA-B associated transcript 1			31504445		0.507	ENSG00000198563	1287	g.chr6:31504445C>A	intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding							-2.037144	KEEP	7	1	0.125	30	26	7	1	0.125	6.968384	30	26	0.08	1	0	0	0	0	1	0	0	0	--	--		0	A			BAT1_uc003ntr.2_5'Flank|BAT1_uc003nts.2_Missense_Mutation_p.G150C|BAT1_uc011dnn.1_Missense_Mutation_p.G72C|BAT1_uc003ntu.2_Missense_Mutation_p.G150C|BAT1_uc003ntv.2_Missense_Mutation_p.G150C|BAT1_uc003ntw.2_Missense_Mutation_p.G150C|BAT1_uc003ntx.2_Missense_Mutation_p.G150C|BAT1_uc011dno.1_Missense_Mutation_p.G103C|BAT1_uc011dnp.1_Missense_Mutation_p.G72C|SNORD117_uc003nty.1_5'Flank|BAT1_uc011dnq.1_RNA	76	GBM-06-0881-TP	p.G150C	C	GACAGACCACCAAAAAAAACA	NM_004640	NP_004631	31504445	Q13838	DX39B_HUMAN	0			5	1079	-	A	A			Missense_Mutation	150			Helicase ATP-binding.			
DDX39B	0	broad.mit.edu	GRCh37	6	31504459	31504459	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C			TCGA-14-1395-01	TCGA-14-1395-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396172.1:c.434T>G	p.Val145Gly	p.V145G	ENST00000396172	NM_004640.6	145	gTt/gGt	0			1			C	V/G	uc003ntt.2	protein_coding	YES	CCDS4697.1			434/1287										0	c.(433-435)GTT>GGT			PROSITE_profiles:PS51192,hmmpanther:PTHR24031:SF204,hmmpanther:PTHR24031,Gene3D:3.40.50.300,Pfam_domain:PF00270,SMART_domains:SM00487,Superfamily_domains:SSF52540	HLA-B associated transcript 1				ENSP00000379475		11-May	0.0145	0.027	0.0328	0.0264	0.0366	0.00831	0.00708	0.00392	rs754655043,COSM3748332,COSM3748333,COSM4003934,COSM3748335,COSM3748334	11-May	common_variant		ENST00000396172	Transcript			intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	ENSG00000198563	g.chr6:31504459A>C	13917			MODERATE		2.11	medium	getma.org/?cm=msa&ty=f&p=DX39B_HUMAN&rb=69&re=238&var=V145G	getma.org/pdb.php?prot=DX39B_HUMAN&from=69&to=238&var=V145G	getma.org/?cm=var&var=hg19,6,31504459,A,C&fts=all	V145G	--	--	1																																		BAT1_uc003ntr.2_5'Flank|BAT1_uc003nts.2_Missense_Mutation_p.V145G|BAT1_uc011dnn.1_Missense_Mutation_p.V67G|BAT1_uc003ntu.2_Missense_Mutation_p.V145G|BAT1_uc003ntv.2_Missense_Mutation_p.V145G|BAT1_uc003ntw.2_Missense_Mutation_p.V145G|BAT1_uc003ntx.2_Missense_Mutation_p.V145G|BAT1_uc011dno.1_Missense_Mutation_p.V98G|BAT1_uc011dnp.1_Missense_Mutation_p.V67G|SNORD117_uc003nty.1_5'Flank|BAT1_uc011dnq.1_RNA	0,1,1,1,1,1	1		possibly_damaging(0.76)	p.V145G	NM_004640	NP_004631		deleterious(0)	0,1,1,1,1,1	DX39B_HUMAN	DDX39B	HGNC	Q13838	DX39B_HUMAN			Q7KYK3_HUMAN,F6WLT2_HUMAN,F6UN21_HUMAN,F6U6E2_HUMAN,F6TRA5_HUMAN,F6S4E6_HUMAN,F6QWI5_HUMAN		5	1065	-			UPI0000001D0B	145			Helicase ATP-binding.		SNV	DDX39B,missense_variant,p.Val160Gly,ENST00000417556,;DDX39B,missense_variant,p.Val145Gly,ENST00000396172,NM_004640.6;DDX39B,missense_variant,p.Val145Gly,ENST00000458640,NM_080598.5;DDX39B,missense_variant,p.Val145Gly,ENST00000376177,;DDX39B,missense_variant,p.Val67Gly,ENST00000415382,;DDX39B,missense_variant,p.Val98Gly,ENST00000453105,;DDX39B,missense_variant,p.Val145Gly,ENST00000427214,;DDX39B,missense_variant,p.Val145Gly,ENST00000456662,;DDX39B,missense_variant,p.Val145Gly,ENST00000419338,;DDX39B,missense_variant,p.Val67Gly,ENST00000431908,;DDX39B,missense_variant,p.Val145Gly,ENST00000428098,;DDX39B,missense_variant,p.Val173Gly,ENST00000428450,;DDX39B,missense_variant,p.Val168Gly,ENST00000449757,;DDX39B,splice_region_variant,,ENST00000449074,;DDX39B,downstream_gene_variant,,ENST00000456976,;DDX39B,downstream_gene_variant,,ENST00000418897,;DDX39B,downstream_gene_variant,,ENST00000419020,;DDX39B,upstream_gene_variant,,ENST00000417023,;SNORD84,downstream_gene_variant,,ENST00000584275,NR_003065.1;SNORD117,upstream_gene_variant,,ENST00000364915,NR_003140.1;DDX39B,splice_region_variant,,ENST00000481456,;DDX39B,splice_region_variant,,ENST00000462256,;ATP6V1G2-DDX39B,splice_region_variant,,ENST00000376185,;DDX39B,splice_region_variant,,ENST00000482195,;DDX39B,upstream_gene_variant,,ENST00000474961,;DDX39B,upstream_gene_variant,,ENST00000484566,;ATP6V1G2-DDX39B,downstream_gene_variant,,ENST00000480131,;	uc003ntt.2	c.434T>G	1065/2133	3	3			c.434T>G						6	SNP	c.(433-435)GTT>GGT	16	16				0	Broad	HLA-B associated transcript 1			31504459		0.498	ENSG00000198563	1287	g.chr6:31504459A>C	intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding							1.490869	KEEP	13	8	-1	31	20	13	8	-1	6.896615	31	20	0.166667	1	0	0	0	0	1	0	0	0	--	--		0	C			BAT1_uc003ntr.2_5'Flank|BAT1_uc003nts.2_Missense_Mutation_p.V145G|BAT1_uc011dnn.1_Missense_Mutation_p.V67G|BAT1_uc003ntu.2_Missense_Mutation_p.V145G|BAT1_uc003ntv.2_Missense_Mutation_p.V145G|BAT1_uc003ntw.2_Missense_Mutation_p.V145G|BAT1_uc003ntx.2_Missense_Mutation_p.V145G|BAT1_uc011dno.1_Missense_Mutation_p.V98G|BAT1_uc011dnp.1_Missense_Mutation_p.V67G|SNORD117_uc003nty.1_5'Flank|BAT1_uc011dnq.1_RNA	144	GBM-14-1395-TP	p.V145G	A	AAAAACAGCAACCTGCCGAGC	NM_004640	NP_004631	31504459	Q13838	DX39B_HUMAN	0			5	1065	-	C	C			Missense_Mutation	145			Helicase ATP-binding.			
DDX39B	0	broad.mit.edu	GRCh37	6	31508154	31508154	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396172.1:c.156C>G	p.Leu52=	p.L52=	ENST00000396172	NM_004640.6	52	ctC/ctG	0			1			C	L	uc003ntt.2	protein_coding	YES	CCDS4697.1			156/1287										0	c.(154-156)CTC>CTG			PROSITE_profiles:PS51195,hmmpanther:PTHR24031:SF204,hmmpanther:PTHR24031,Gene3D:3.40.50.300	HLA-B associated transcript 1				ENSP00000379475		11-Feb									COSM3410932,COSM3410933,COSM3410936,COSM3410935,COSM3410934	11-Feb	.		ENST00000396172	Transcript			intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	ENSG00000198563	g.chr6:31508154G>C	13917			LOW								--	--	1																																		BAT1_uc003nts.2_Silent_p.L52L|BAT1_uc011dnn.1_Nonsense_Mutation_p.S48*|BAT1_uc003ntu.2_Silent_p.L52L|BAT1_uc003ntv.2_Silent_p.L52L|BAT1_uc003ntw.2_Silent_p.L52L|BAT1_uc003ntx.2_Silent_p.L52L|BAT1_uc011dno.1_Nonsense_Mutation_p.S48*|BAT1_uc011dnp.1_Nonsense_Mutation_p.S48*|BAT1_uc011dnq.1_RNA	1,1,1,1,1	1			p.L52L	NM_004640	NP_004631			1,1,1,1,1	DX39B_HUMAN	DDX39B	HGNC	Q13838	DX39B_HUMAN			Q7KYK3_HUMAN,F6WLT2_HUMAN,F6UN21_HUMAN,F6U6E2_HUMAN,F6TRA5_HUMAN,F6S4E6_HUMAN,F6QWI5_HUMAN		2	787	-			UPI0000001D0B	52			Q motif.		SNV	DDX39B,stop_gained,p.Ser48Ter,ENST00000415382,;DDX39B,stop_gained,p.Ser48Ter,ENST00000453105,;DDX39B,stop_gained,p.Ser48Ter,ENST00000431908,;DDX39B,synonymous_variant,p.=,ENST00000417556,;DDX39B,synonymous_variant,p.=,ENST00000396172,NM_004640.6;DDX39B,synonymous_variant,p.=,ENST00000458640,NM_080598.5;DDX39B,synonymous_variant,p.=,ENST00000376177,;DDX39B,synonymous_variant,p.=,ENST00000427214,;DDX39B,synonymous_variant,p.=,ENST00000456662,;DDX39B,synonymous_variant,p.=,ENST00000419338,;DDX39B,synonymous_variant,p.=,ENST00000449074,;DDX39B,synonymous_variant,p.=,ENST00000428098,;DDX39B,synonymous_variant,p.=,ENST00000456976,;DDX39B,synonymous_variant,p.=,ENST00000428450,;DDX39B,synonymous_variant,p.=,ENST00000449757,;DDX39B,synonymous_variant,p.=,ENST00000418897,;DDX39B,synonymous_variant,p.=,ENST00000419020,;ATP6V1G2,downstream_gene_variant,,ENST00000303892,NM_138282.2,NM_130463.3;ATP6V1G2,downstream_gene_variant,,ENST00000376151,NM_001204078.1;ATP6V1G2,downstream_gene_variant,,ENST00000483251,;ATP6V1G2,downstream_gene_variant,,ENST00000415099,;SNORD84,downstream_gene_variant,,ENST00000584275,NR_003065.1;SNORD117,upstream_gene_variant,,ENST00000364915,NR_003140.1;DDX39B-AS1,upstream_gene_variant,,ENST00000420520,;DDX39B-AS1,upstream_gene_variant,,ENST00000416684,;ATP6V1G2,downstream_gene_variant,,ENST00000483170,;ATP6V1G2-DDX39B,downstream_gene_variant,,ENST00000475917,;ATP6V1G2-DDX39B,3_prime_UTR_variant,,ENST00000376185,;DDX39B,non_coding_transcript_exon_variant,,ENST00000481456,;DDX39B,non_coding_transcript_exon_variant,,ENST00000462256,;DDX39B,non_coding_transcript_exon_variant,,ENST00000482195,;DDX39B,upstream_gene_variant,,ENST00000484566,;ATP6V1G2-DDX39B,downstream_gene_variant,,ENST00000480131,;	uc003ntt.2	c.156C>G	787/2133	3	3			c.156C>G						6	SNP	c.(154-156)CTC>CTG	55	55				0	Broad	HLA-B associated transcript 1			31508154		0.547	ENSG00000198563	1287	g.chr6:31508154G>C	intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding							46.463539	KEEP	10	12	-1	40	35	10	12	-1	51.764143	40	35	0.219178	1	0	0	0	0	0	0	1	0	--	--		0	C			BAT1_uc003nts.2_Silent_p.L52L|BAT1_uc011dnn.1_Nonsense_Mutation_p.S48*|BAT1_uc003ntu.2_Silent_p.L52L|BAT1_uc003ntv.2_Silent_p.L52L|BAT1_uc003ntw.2_Silent_p.L52L|BAT1_uc003ntx.2_Silent_p.L52L|BAT1_uc011dno.1_Nonsense_Mutation_p.S48*|BAT1_uc011dnp.1_Nonsense_Mutation_p.S48*|BAT1_uc011dnq.1_RNA	235	GBM-32-2491-TP	p.L52L	G	ACTCTGGCTTGAGCAGGAAGT	NM_004640	NP_004631	31508154	Q13838	DX39B_HUMAN	0			2	787	-	C	C			Silent	52			Q motif.			
DDX3X	0	broad.mit.edu	GRCh37	X	41204796	41204796	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-1991-01	TCGA-32-1991-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399959.2:c.1310C>A	p.Ala437Glu	p.A437E	ENST00000399959	NM_001193417.1	437	gCa/gAa	0			1			A	A/E	uc004dfe.2	protein_coding	YES	CCDS43931.1			1310/1989									ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6	c.(1309-1311)GCA>GAA			PROSITE_profiles:PS51194,hmmpanther:PTHR24031:SF195,hmmpanther:PTHR24031,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3				ENSP00000382840		17-Dec									COSM3406374	17-Dec	.		ENST00000399959	Transcript	1		interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	ENSG00000215301	g.chrX:41204796C>A	2745			MODERATE		-0.775	neutral	getma.org/?cm=msa&ty=f&p=DDX3X_HUMAN&rb=414&re=575&var=A437E	getma.org/pdb.php?prot=DDX3X_HUMAN&from=414&to=575&var=A437E	getma.org/?cm=var&var=hg19,X,41204796,C,A&fts=all	A437E	--	--	1				HNSCC(61;0.18)																														DDX3X_uc004dff.2_Missense_Mutation_p.A437E|DDX3X_uc011mkq.1_Missense_Mutation_p.A421E|DDX3X_uc011mkr.1_Intron|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA	1	1		benign(0.265)	p.A437E	NM_001356	NP_001347		deleterious(0)	1	DDX3X_HUMAN	DDX3X	HGNC	O00571	DDX3X_HUMAN			Q59GX6_HUMAN		12	2165	+			UPI000013CB6D	437			Helicase C-terminal.|Necessary for interaction with XPO1.		SNV	DDX3X,missense_variant,p.Ala437Glu,ENST00000399959,NM_001193417.1,NM_001356.3,NM_001193416.1;DDX3X,missense_variant,p.Ala421Glu,ENST00000457138,;DDX3X,3_prime_UTR_variant,,ENST00000542215,;DDX3X,intron_variant,,ENST00000441189,;RN7SL15P,downstream_gene_variant,,ENST00000582825,;DDX3X,non_coding_transcript_exon_variant,,ENST00000478993,;	uc004dfe.2	c.1310C>A	2165/5334	1	1			c.1310C>A						23	SNP	c.(1309-1311)GCA>GAA	62	62			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6	Broad	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3			41204796		0.249	ENSG00000215301	4281	g.chrX:41204796C>A	interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding							-23.316522	KEEP	4	0	-1	57	83	4	0	-1	7.778991	57	83	0.031008	1	0	0	0	0	1	0	0	0	--	--	HNSCC(61;0.18)	0	A			DDX3X_uc004dff.2_Missense_Mutation_p.A437E|DDX3X_uc011mkq.1_Missense_Mutation_p.A421E|DDX3X_uc011mkr.1_Intron|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA	234	GBM-32-1991-TP	p.A437E	C	CTCCTAAATGCAACAGGTAAC	NM_001356	NP_001347	41204796	O00571	DDX3X_HUMAN	0			12	2165	+	A	A			Missense_Mutation	437			Helicase C-terminal.|Necessary for interaction with XPO1.			
DDX3X	1654		GRCh37	X	41206682	41206683	+	inframe_insertion	In_Frame_Ins	INS	-	-	AGC			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000399959.2:c.1893_1895dup	p.Ser631dup	p.S631dup	ENST00000399959	NM_001193417.1	631	-/AGC	0																																																																																																																																																																																																																																												
DDX4	0	broad.mit.edu	GRCh37	5	55083703	55083703	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-26-6174-01	TCGA-26-6174-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000505374.1:c.1047T>C	p.His349=	p.H349=	ENST00000505374	NM_024415.2	349	caT/caC	0			1			C	H	uc003jqg.3	protein_coding	YES	CCDS3969.1			1047/2175									ovary(1)|skin(1)	2	c.(1045-1047)CAT>CAC			Gene3D:3.40.50.300,Pfam_domain:PF00270,PROSITE_profiles:PS51192,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF168,SMART_domains:SM00487,Superfamily_domains:SSF52540	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform				ENSP00000424838		15/22									COSM3410321,COSM3410319,COSM3410320	15/22	.		ENST00000505374	Transcript			multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	ENSG00000152670	g.chr5:55083703T>C	18700			LOW								--	--	1																																		DDX4_uc010ivz.2_Silent_p.H329H|DDX4_uc003jqh.3_Silent_p.H315H|DDX4_uc003jqj.2_Silent_p.H200H	1,1,1	1			p.H349H	NM_001136034	NP_001129506			1,1,1	DDX4_HUMAN	DDX4	HGNC	Q9NQI0	DDX4_HUMAN			D6RBL3_HUMAN,D6RAF5_HUMAN		15	1121	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	UPI00001290D3	349			Helicase ATP-binding.		SNV	DDX4,synonymous_variant,p.=,ENST00000505374,NM_024415.2;DDX4,synonymous_variant,p.=,ENST00000353507,NM_001142549.1;DDX4,synonymous_variant,p.=,ENST00000514278,NM_001166533.1;DDX4,synonymous_variant,p.=,ENST00000354991,;DDX4,synonymous_variant,p.=,ENST00000511853,NM_001166534.1;DDX4,synonymous_variant,p.=,ENST00000506511,;DDX4,synonymous_variant,p.=,ENST00000503129,;DDX4,downstream_gene_variant,,ENST00000507645,;	uc003jqg.3	c.1047T>C	1139/2884	3	3			c.1047T>C						5	SNP	c.(1045-1047)CAT>CAC	15	15			ovary(1)|skin(1)	2	Broad	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform			55083703		0.383	ENSG00000152670	4283	g.chr5:55083703T>C	multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding							-2.610776	KEEP	0	7	-1	46	49	0	7	-1	14.897093	46	49	0.066667	1	0	0	0	0	0	0	1	0	--	--		0	C			DDX4_uc010ivz.2_Silent_p.H329H|DDX4_uc003jqh.3_Silent_p.H315H|DDX4_uc003jqj.2_Silent_p.H200H	188	GBM-26-6174-TP	p.H349H	T	TTTTGGCTCATATGATGCATG	NM_001136034	NP_001129506	55083703	Q9NQI0	DDX4_HUMAN	0			15	1121	+	C	C		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	Silent	349			Helicase ATP-binding.			
DDX41	0	broad.mit.edu	GRCh37	5	176943782	176943782	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-27-1835-01	TCGA-27-1835-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000507955.1:c.82G>C	p.Glu28Gln	p.E28Q	ENST00000507955	NM_016222.2	28	Gag/Cag	0			1			G	E/Q	uc003mho.2	protein_coding	YES	CCDS4427.1			82/1869										0	c.(82-84)GAG>CAG			Low_complexity_(Seg):seg,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF20	DEAD-box protein abstrakt				ENSP00000422753		17-Feb									COSM3410169	17-Feb	.		ENST00000507955	Transcript			apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	ENSG00000183258	g.chr5:176943782C>G	18674			MODERATE		1.625	low	getma.org/?cm=msa&ty=f&p=DDX41_HUMAN&rb=1&re=59&var=E28Q	NA	getma.org/?cm=var&var=hg19,5,176943782,C,G&fts=all	E28Q	--	--	1																																		DDX41_uc003mhm.2_5'Flank|DDX41_uc003mhn.2_5'UTR|DDX41_uc003mhp.2_5'UTR|DDX41_uc003mhq.1_5'UTR	1	1		benign(0.032)	p.E28Q	NM_016222	NP_057306		tolerated(0.19)	1	DDX41_HUMAN	DDX41	HGNC	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		B3KRK2_HUMAN		2	103	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	UPI0000125164	28	PAGGSRSEAEDEDDEDYVPYVPLRQRR -> LPEEAAPRRK MRTTRTTCPMCRYAAP (in Ref. 1; AAF04150).				SNV	DDX41,missense_variant,p.Glu28Gln,ENST00000507955,NM_016222.2;DDX41,missense_variant,p.Glu46Gln,ENST00000330503,;FAM193B,downstream_gene_variant,,ENST00000329540,;FAM193B,downstream_gene_variant,,ENST00000443375,;FAM193B,downstream_gene_variant,,ENST00000514747,NM_001190946.1;FAM193B,downstream_gene_variant,,ENST00000524677,;DDX41,non_coding_transcript_exon_variant,,ENST00000506965,;FAM193B,downstream_gene_variant,,ENST00000504130,;DDX41,missense_variant,p.Glu28Gln,ENST00000509576,;DDX41,missense_variant,p.Glu28Gln,ENST00000510171,;DDX41,non_coding_transcript_exon_variant,,ENST00000505081,;DDX41,non_coding_transcript_exon_variant,,ENST00000503078,;DDX41,non_coding_transcript_exon_variant,,ENST00000515562,;DDX41,non_coding_transcript_exon_variant,,ENST00000512431,;FAM193B,downstream_gene_variant,,ENST00000506955,;FAM193B,downstream_gene_variant,,ENST00000510479,;FAM193B,downstream_gene_variant,,ENST00000510163,;FAM193B,downstream_gene_variant,,ENST00000505569,;DDX41,upstream_gene_variant,,ENST00000507900,;DDX41,upstream_gene_variant,,ENST00000504807,;DDX41,upstream_gene_variant,,ENST00000508279,;DDX41,upstream_gene_variant,,ENST00000511040,;FAM193B,downstream_gene_variant,,ENST00000507212,;DDX41,upstream_gene_variant,,ENST00000512334,;FAM193B,downstream_gene_variant,,ENST00000513282,;DDX41,upstream_gene_variant,,ENST00000504781,;DDX41,upstream_gene_variant,,ENST00000512027,;FAM193B,downstream_gene_variant,,ENST00000506879,;DDX41,upstream_gene_variant,,ENST00000513562,;	uc003mho.2	c.82G>C	606/2607	3	3			c.82G>C						5	SNP	c.(82-84)GAG>CAG	52	52				0	Broad	DEAD-box protein abstrakt			176943782		0.706	ENSG00000183258	4284	g.chr5:176943782C>G	apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding							3.636447	KEEP	0	3	-1	13	10	0	3	-1	6.327547	13	10	0.111111	1	0	0	0	0	1	0	0	0	--	--		0	G			DDX41_uc003mhm.2_5'Flank|DDX41_uc003mhn.2_5'UTR|DDX41_uc003mhp.2_5'UTR|DDX41_uc003mhq.1_5'UTR	194	GBM-27-1835-TP	p.E28Q	C	TCGTCGTCCTCATCTTCCGCC	NM_016222	NP_057306	176943782	Q9UJV9	DDX41_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		2	103	-	G	G	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Missense_Mutation	28	PAGGSRSEAEDEDDEDYVPYVPLRQRR -> LPEEAAPRRK MRTTRTTCPMCRYAAP (in Ref. 1; AAF04150).					
DDX41	0	broad.mit.edu	GRCh37	5	176942773	176942773	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6282-01	TCGA-76-6282-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000507955.1:c.484C>T	p.Arg162Cys	p.R162C	ENST00000507955	NM_016222.2	162	Cgc/Tgc	0			1			A	R/C	uc003mho.2	protein_coding	YES	CCDS4427.1			484/1869										0	c.(484-486)CGC>TGC			hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF20	DEAD-box protein abstrakt				ENSP00000422753		17-Jun	2.47E-05		0.000173			1.50E-05			rs766175686,COSM3410168	17-Jun	.		ENST00000507955	Transcript			apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	ENSG00000183258	g.chr5:176942773G>A	18674			MODERATE		2.485	medium	getma.org/?cm=msa&ty=f&p=DDX41_HUMAN&rb=113&re=204&var=R162C	NA	getma.org/?cm=var&var=hg19,5,176942773,G,A&fts=all	R162C	--	--	1																																		DDX41_uc003mhm.2_5'UTR|DDX41_uc003mhn.2_Missense_Mutation_p.R31C|DDX41_uc003mhp.2_Missense_Mutation_p.R31C|DDX41_uc003mhq.1_5'UTR	0,1	1		probably_damaging(0.996)	p.R162C	NM_016222	NP_057306		deleterious(0.02)	0,1	DDX41_HUMAN	DDX41	HGNC	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		B3KRK2_HUMAN		6	505	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	UPI0000125164	162					SNV	DDX41,missense_variant,p.Arg162Cys,ENST00000507955,NM_016222.2;DDX41,missense_variant,p.Arg180Cys,ENST00000330503,;FAM193B,downstream_gene_variant,,ENST00000329540,;FAM193B,downstream_gene_variant,,ENST00000443375,;FAM193B,downstream_gene_variant,,ENST00000514747,NM_001190946.1;FAM193B,downstream_gene_variant,,ENST00000524677,;DOK3,upstream_gene_variant,,ENST00000509310,;DOK3,upstream_gene_variant,,ENST00000510389,;DDX41,intron_variant,,ENST00000506965,;FAM193B,downstream_gene_variant,,ENST00000504130,;DDX41,missense_variant,p.Arg162Cys,ENST00000509576,;DDX41,missense_variant,p.Arg75Cys,ENST00000504781,;DDX41,3_prime_UTR_variant,,ENST00000510171,;DDX41,non_coding_transcript_exon_variant,,ENST00000505081,;DDX41,non_coding_transcript_exon_variant,,ENST00000503078,;DDX41,non_coding_transcript_exon_variant,,ENST00000515562,;DDX41,non_coding_transcript_exon_variant,,ENST00000512431,;FAM193B,downstream_gene_variant,,ENST00000506955,;FAM193B,downstream_gene_variant,,ENST00000510479,;FAM193B,downstream_gene_variant,,ENST00000510163,;FAM193B,downstream_gene_variant,,ENST00000505569,;DDX41,upstream_gene_variant,,ENST00000507900,;DDX41,upstream_gene_variant,,ENST00000504807,;DDX41,upstream_gene_variant,,ENST00000508279,;DDX41,upstream_gene_variant,,ENST00000511040,;FAM193B,downstream_gene_variant,,ENST00000507212,;DDX41,upstream_gene_variant,,ENST00000512334,;FAM193B,downstream_gene_variant,,ENST00000513282,;DDX41,upstream_gene_variant,,ENST00000512027,;FAM193B,downstream_gene_variant,,ENST00000506879,;DDX41,upstream_gene_variant,,ENST00000513562,;	uc003mho.2	c.484C>T	1008/2607	2	2			c.484C>T						5	SNP	c.(484-486)CGC>TGC	32	32				0	Broad	DEAD-box protein abstrakt			176942773		0.129	ENSG00000183258	4284	g.chr5:176942773G>A	apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding							-16.423886	KEEP	3	1	-1	48	53	3	1	-1	6.897581	48	53	0.039216	1	0	0	0	0	1	0	0	0	--	--		0	A			DDX41_uc003mhm.2_5'UTR|DDX41_uc003mhn.2_Missense_Mutation_p.R31C|DDX41_uc003mhp.2_Missense_Mutation_p.R31C|DDX41_uc003mhq.1_5'UTR	278	GBM-76-6282-TP	p.R162C	G	ttccgcacgcgctcatgtcgc	NM_016222	NP_057306	176942773	Q9UJV9	DDX41_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		6	505	-	A	A	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Missense_Mutation	162						
DDX41	51428		GRCh37	5	176941751	176941751	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000507955.1:c.886C>G	p.Leu296Val	p.L296V	ENST00000507955	NM_016222.2	296	Ctc/Gtc	0																																																																																																																																																																																																																																												
DDX49	54555	broad.mit.edu	GRCh37	19	19030579	19030579	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01	TCGA-06-2564-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000247003.4:c.29C>T	p.Ser10Leu	p.S10L	ENST00000247003	NM_019070.4	10	tCa/tTa	0			1			T	S/L	uc002nkq.1	protein_coding	YES	CCDS12390.1			29/1452									ovary(1)	1	c.(28-30)TCA>TTA			PROSITE_profiles:PS51195,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF145,Gene3D:3.40.50.300	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49				ENSP00000247003		13-Jan									COSM2152968	13-Jan	.		ENST00000247003	Transcript					ATP binding|ATP-dependent helicase activity|RNA binding	ENSG00000105671	g.chr19:19030579C>T	18684			MODERATE		2.2	medium	getma.org/?cm=msa&ty=f&p=DDX49_HUMAN&rb=1&re=55&var=S10L	getma.org/pdb.php?prot=DDX49_HUMAN&from=1&to=25&var=S10L	getma.org/?cm=var&var=hg19,19,19030579,C,T&fts=all	S10L	--	--	1																																		COPE_uc002nkk.2_5'Flank|COPE_uc002nkl.2_5'Flank|COPE_uc002nkm.2_5'Flank|COPE_uc002nkn.2_5'Flank|HOMER3_uc002nko.1_Intron|HOMER3_uc002nkp.1_Intron|DDX49_uc002nkr.1_RNA|DDX49_uc002nks.1_5'UTR|DDX49_uc002nkt.1_5'Flank	1	1		benign(0.197)	p.S10L	NM_019070	NP_061943		tolerated(0.07)	1	DDX49_HUMAN	DDX49	HGNC	Q9Y6V7	DDX49_HUMAN	Epithelial(12;0.0289)				1	86	+			UPI000006E7E7	10			Q motif.		SNV	DDX49,missense_variant,p.Ser10Leu,ENST00000247003,NM_019070.4;DDX49,5_prime_UTR_variant,,ENST00000438170,;COPE,upstream_gene_variant,,ENST00000600932,;COPE,upstream_gene_variant,,ENST00000262812,NM_007263.3;COPE,upstream_gene_variant,,ENST00000349893,NM_199444.1;COPE,upstream_gene_variant,,ENST00000351079,NM_199442.1;COPE,upstream_gene_variant,,ENST00000597646,;DDX49,upstream_gene_variant,,ENST00000599156,;COPE,upstream_gene_variant,,ENST00000599964,;DDX49,upstream_gene_variant,,ENST00000601772,;DDX49,missense_variant,p.Ser10Leu,ENST00000595858,;DDX49,missense_variant,p.Ser10Leu,ENST00000602113,;DDX49,missense_variant,p.Ser10Leu,ENST00000598972,;DDX49,missense_variant,p.Ser10Leu,ENST00000594021,;DDX49,missense_variant,p.Ser10Leu,ENST00000593361,;DDX49,non_coding_transcript_exon_variant,,ENST00000599373,;DDX49,non_coding_transcript_exon_variant,,ENST00000599981,;AC002985.3,intron_variant,,ENST00000596918,;AC002985.3,intron_variant,,ENST00000593484,;DDX49,upstream_gene_variant,,ENST00000601803,;DDX49,upstream_gene_variant,,ENST00000598277,;COPE,upstream_gene_variant,,ENST00000593827,;	uc002nkq.1	c.29C>T	96/1830	1	1			c.29C>T						19	SNP	c.(28-30)TCA>TTA	1	1			ovary(1)	1	Broad	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49			19030579		0.677	ENSG00000105671	4289	g.chr19:19030579C>T			ATP binding|ATP-dependent helicase activity|RNA binding							38.537887	KEEP	11	10	-1	19	24	11	10	-1	39.33196	19	24	0.35	1	0	0	0	0	1	0	0	0	--	--		0	T			COPE_uc002nkk.2_5'Flank|COPE_uc002nkl.2_5'Flank|COPE_uc002nkm.2_5'Flank|COPE_uc002nkn.2_5'Flank|HOMER3_uc002nko.1_Intron|HOMER3_uc002nkp.1_Intron|DDX49_uc002nkr.1_RNA|DDX49_uc002nks.1_5'UTR|DDX49_uc002nkt.1_5'Flank	87	GBM-06-2564-TP	p.S10L	C	CTCGGGCTGTCATCGTGGCTC	NM_019070	NP_061943	19030579	Q9Y6V7	DDX49_HUMAN	0	Epithelial(12;0.0289)		1	86	+	T	T			Missense_Mutation	10			Q motif.			
DDX5	0	broad.mit.edu	GRCh37	17	62496298	62496298	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-32-1986-01	TCGA-32-1986-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000225792.5:c.1588delA	p.Thr530LeufsTer59	p.T530Lfs*59	ENST00000225792	NM_004396.3	530	Act/ct	0			1			-	T/X	uc002jek.2	protein_coding	YES	CCDS11659.1			1588/1845	T		ETV4		prostate				ovary(2)|lung(1)	3	c.(1588-1590)ACTfs			hmmpanther:PTHR24031:SF182,hmmpanther:PTHR24031,Pfam_domain:PF08061	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5				ENSP00000225792		13/13									COSM1249907,COSM1249908	13/13	.		ENST00000225792	Transcript			cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	ENSG00000108654	g.chr17:62496298delT	2746			HIGH								--	--	1																																		DDX5_uc010deh.2_Frame_Shift_Del_p.T530fs|DDX5_uc002jej.2_Frame_Shift_Del_p.T425fs|DDX5_uc010wqa.1_Frame_Shift_Del_p.T451fs	1,1	1			p.T530fs	NM_004396	NP_004387			1,1	DDX5_HUMAN	DDX5	HGNC	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		J3QS97_HUMAN,J3QRQ7_HUMAN,J3QRN5_HUMAN,J3QR62_HUMAN,J3QLG9_HUMAN,J3QKN9_HUMAN,J3KTQ4_HUMAN,J3KRZ1_HUMAN,J3KRX8_HUMAN		13	1835	-	Breast(5;2.15e-14)		UPI000003B456	530					deletion	DDX5,frameshift_variant,p.Thr530LeufsTer59,ENST00000225792,NM_004396.3;DDX5,frameshift_variant,p.Thr451LeufsTer59,ENST00000450599,;DDX5,frameshift_variant,p.Thr530LeufsTer59,ENST00000578804,;POLG2,upstream_gene_variant,,ENST00000539111,NM_007215.3;DDX5,downstream_gene_variant,,ENST00000585111,;DDX5,downstream_gene_variant,,ENST00000577922,;DDX5,downstream_gene_variant,,ENST00000577787,;DDX5,downstream_gene_variant,,ENST00000579996,;DDX5,downstream_gene_variant,,ENST00000584279,;DDX5,downstream_gene_variant,,ENST00000578190,;DDX5,downstream_gene_variant,,ENST00000581697,;DDX5,downstream_gene_variant,,ENST00000581806,;DDX5,downstream_gene_variant,,ENST00000585060,;DDX5,downstream_gene_variant,,ENST00000583212,;DDX5,downstream_gene_variant,,ENST00000579091,;DDX5,downstream_gene_variant,,ENST00000583239,;MIR5047,downstream_gene_variant,,ENST00000579212,;MIR3064,downstream_gene_variant,,ENST00000581130,;DDX5,non_coding_transcript_exon_variant,,ENST00000580026,;DDX5,downstream_gene_variant,,ENST00000581237,;DDX5,downstream_gene_variant,,ENST00000578491,;DDX5,3_prime_UTR_variant,,ENST00000540698,;DDX5,3_prime_UTR_variant,,ENST00000581693,;DDX5,non_coding_transcript_exon_variant,,ENST00000581230,;DDX5,non_coding_transcript_exon_variant,,ENST00000578758,;POLG2,upstream_gene_variant,,ENST00000585141,;DDX5,downstream_gene_variant,,ENST00000585317,;DDX5,downstream_gene_variant,,ENST00000579461,;DDX5,downstream_gene_variant,,ENST00000584549,;DDX5,downstream_gene_variant,,ENST00000583894,;DDX5,downstream_gene_variant,,ENST00000585223,;DDX5,downstream_gene_variant,,ENST00000582326,;DDX5,downstream_gene_variant,,ENST00000578400,;DDX5,downstream_gene_variant,,ENST00000581551,;POLG2,upstream_gene_variant,,ENST00000578997,;DDX5,downstream_gene_variant,,ENST00000583201,;DDX5,downstream_gene_variant,,ENST00000583562,;	uc002jek.2	c.1588delA	1990/2554	5	5			c.1588delA	T		ETV4		prostate	17	DEL	c.(1588-1590)ACTfs	9	9			ovary(2)|lung(1)	3	Broad	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			62496298		0.413	ENSG00000108654	4290	g.chr17:62496298delT	cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	NSCLC(22;406 813 4871 19580 40307)			NSCLC(22;406 813 4871 19580 40307)																0.01	1	1	0	1	0	0	0	0	0	--	--		0	-			DDX5_uc010deh.2_Frame_Shift_Del_p.T530fs|DDX5_uc002jej.2_Frame_Shift_Del_p.T425fs|DDX5_uc010wqa.1_Frame_Shift_Del_p.T451fs	233	GBM-32-1986-TP	p.T530fs	T	CCATTCTGAGTTTTTGCCCCA	NM_004396	NP_004387	62496298	P17844	DDX5_HUMAN	0	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		13	1835	-	-	-	Breast(5;2.15e-14)		Frame_Shift_Del	530						
DDX5	0	broad.mit.edu	GRCh37	17	62500099	62500102	+	splice_donor_variant,coding_sequence_variant	Splice_Site	DEL	ACAG	ACAG	-			TCGA-76-4925-01	TCGA-76-4925-01	ACAG	ACAG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000225792.5:c.440_441+2delCTGT		p.X147_splice	ENST00000225792	NM_004396.3	147		0			1			-		uc002jek.2	protein_coding	YES	CCDS11659.1			440-?/1845	T		ETV4		prostate				ovary(2)|lung(1)	3	c.e4+1				DEAD (Asp-Glu-Ala-Asp) box polypeptide 5				ENSP00000225792		13-Apr	1.65E-05	9.63E-05						6.06E-05	rs782442161,COSM1290744,COSM1290745	13-Apr	.		ENST00000225792	Transcript			cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	ENSG00000108654	g.chr17:62500099_62500102delACAG	2746			HIGH	12-Apr							--	--	1																																		DDX5_uc010deh.2_Splice_Site_p.S147_splice|DDX5_uc002jej.2_Splice_Site_p.S42_splice|DDX5_uc010wqa.1_Intron|DDX5_uc002jel.1_5'Flank	0,1,1	1			p.S147_splice	NM_004396	NP_004387			0,1,1	DDX5_HUMAN	DDX5	HGNC	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		J3QS97_HUMAN,J3QRQ7_HUMAN,J3QRN5_HUMAN,J3QR62_HUMAN,J3QLG9_HUMAN,J3QKN9_HUMAN,J3KTQ4_HUMAN,J3KRZ1_HUMAN,J3KRX8_HUMAN		4	688	-	Breast(5;2.15e-14)		UPI000003B456						deletion	DDX5,splice_donor_variant,,ENST00000225792,NM_004396.3;DDX5,splice_donor_variant,,ENST00000578804,;DDX5,splice_donor_variant,,ENST00000577922,;DDX5,splice_donor_variant,,ENST00000578190,;DDX5,splice_donor_variant,,ENST00000581697,;DDX5,splice_donor_variant,,ENST00000581806,;DDX5,intron_variant,,ENST00000450599,;CEP95,upstream_gene_variant,,ENST00000556440,NM_138363.1;CEP95,upstream_gene_variant,,ENST00000553412,;DDX5,downstream_gene_variant,,ENST00000585111,;CEP95,upstream_gene_variant,,ENST00000581056,;DDX5,upstream_gene_variant,,ENST00000577787,;DDX5,upstream_gene_variant,,ENST00000579996,;DDX5,downstream_gene_variant,,ENST00000584279,;CEP95,upstream_gene_variant,,ENST00000580188,;DDX5,downstream_gene_variant,,ENST00000585060,;DDX5,downstream_gene_variant,,ENST00000583212,;DDX5,downstream_gene_variant,,ENST00000579091,;DDX5,downstream_gene_variant,,ENST00000583239,;MIR5047,upstream_gene_variant,,ENST00000579212,;MIR3064,upstream_gene_variant,,ENST00000581130,;DDX5,upstream_gene_variant,,ENST00000580026,;DDX5,downstream_gene_variant,,ENST00000583699,;DDX5,upstream_gene_variant,,ENST00000581237,;DDX5,downstream_gene_variant,,ENST00000584500,;DDX5,upstream_gene_variant,,ENST00000578491,;DDX5,splice_donor_variant,,ENST00000581230,;DDX5,splice_donor_variant,,ENST00000540698,;DDX5,splice_donor_variant,,ENST00000581693,;DDX5,splice_donor_variant,,ENST00000583894,;DDX5,non_coding_transcript_exon_variant,,ENST00000583562,;DDX5,intron_variant,,ENST00000578400,;CEP95,upstream_gene_variant,,ENST00000553956,;DDX5,upstream_gene_variant,,ENST00000585317,;CEP95,upstream_gene_variant,,ENST00000579860,;DDX5,upstream_gene_variant,,ENST00000579461,;DDX5,upstream_gene_variant,,ENST00000584549,;DDX5,downstream_gene_variant,,ENST00000585223,;DDX5,upstream_gene_variant,,ENST00000578758,;DDX5,upstream_gene_variant,,ENST00000582326,;DDX5,upstream_gene_variant,,ENST00000581551,;DDX5,upstream_gene_variant,,ENST00000583201,;	uc002jek.2	c.441_splice	842-?/2554	5	5			c.441_splice	T		ETV4		prostate	17	DEL	c.e4+1	7	7			ovary(2)|lung(1)	3	Broad	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			62500102		0.397	ENSG00000108654	4290	g.chr17:62500099_62500102delACAG	cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	NSCLC(22;406 813 4871 19580 40307)			NSCLC(22;406 813 4871 19580 40307)																0.35	1	1	0	1	0	0	0	0	1	--	--		0	-			DDX5_uc010deh.2_Splice_Site_p.S147_splice|DDX5_uc002jej.2_Splice_Site_p.S42_splice|DDX5_uc010wqa.1_Intron|DDX5_uc002jel.1_5'Flank	265	GBM-76-4925-TP	p.S147_splice	ACAG	TCCCAAACTTACAGACAATGTTTT	NM_004396	NP_004387	62500099	P17844	DDX5_HUMAN	0	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		4	688	-	-	-	Breast(5;2.15e-14)		Splice_Site							
DDX5	1655		GRCh37	17	62500099	62500102	+	splice_donor_variant,coding_sequence_variant	Splice_Site	DEL	ACAG	ACAG	-			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000225792.5:c.440_441+2del		p.X147_splice	ENST00000225792	NM_004396.3	147		0																																																																																																																																																																																																																																												
DDX5	1655		GRCh37	17	62502217	62502217	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000225792.5:c.21C>G	p.Asp7Glu	p.D7E	ENST00000225792	NM_004396.3	7	gaC/gaG	0																																																																																																																																																																																																																																												
DDX53	168400	broad.mit.edu	GRCh37	X	23019452	23019452	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0649-01	TCGA-06-0649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327968.5:c.1278G>T	p.Met426Ile	p.M426I	ENST00000327968	NM_182699.3	426	atG/atT	0			1			T	M/I	uc004daj.2	protein_coding	YES	CCDS35214.1			1278/1896									large_intestine(1)|ovary(1)|kidney(1)	3	c.(1276-1278)ATG>ATT			PROSITE_profiles:PS51192,hmmpanther:PTHR24031:SF157,hmmpanther:PTHR24031,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53				ENSP00000368667		1-Jan									COSM2151482	1-Jan	.		ENST00000327968	Transcript				nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	ENSG00000184735	g.chrX:23019452G>T	20083			MODERATE		-2.165	neutral	getma.org/?cm=msa&ty=f&p=DDX53_HUMAN&rb=253&re=428&var=M426I	getma.org/pdb.php?prot=DDX53_HUMAN&from=253&to=428&var=M426I	getma.org/?cm=var&var=hg19,X,23019452,G,T&fts=all	M426I	--	--	1																																			1	1		benign(0.425)	p.M426I	NM_182699	NP_874358		tolerated(0.53)	1	DDX53_HUMAN	DDX53	HGNC	Q86TM3	DDX53_HUMAN					1	1366	+			UPI0000199904	426			Helicase ATP-binding.		SNV	DDX53,missense_variant,p.Met426Ile,ENST00000327968,NM_182699.3;RP11-40F8.2,intron_variant,,ENST00000455399,;RP11-40F8.2,intron_variant,,ENST00000608254,;	uc004daj.2	c.1278G>T	1366/2118	2	2			c.1278G>T						23	SNP	c.(1276-1278)ATG>ATT	32	32			large_intestine(1)|ovary(1)|kidney(1)	3	Broad	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53			23019452		0.373	ENSG00000184735	4294	g.chrX:23019452G>T		nucleus	ATP binding|ATP-dependent helicase activity|RNA binding							123.86123	KEEP	37	36	0.506849315	133	65	37	36	0.506849315	136.877424	133	65	0.265385	1	0	0	0	0	1	0	0	0	--	--		0	T				62	GBM-06-0649-TP	p.M426I	G	AAGATCCTATGATTGTTTATG	NM_182699	NP_874358	23019452	Q86TM3	DDX53_HUMAN	0			1	1366	+	T	T			Missense_Mutation	426			Helicase ATP-binding.			
DDX54	0	broad.mit.edu	GRCh37	12	113600992	113600992	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-27-1835-01	TCGA-27-1835-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306014.5:c.2026C>A	p.Arg676=	p.R676=	ENST00000306014	NM_024072.3	676	Cgg/Agg	0			1			T	R	uc001tup.2	protein_coding		CCDS31907.1			2026/2646									skin(2)|central_nervous_system(1)	3	c.(2026-2028)CGG>AGG			hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF71,Low_complexity_(Seg):seg	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54				ENSP00000304072		16/20									COSM3398374	16/20	.		ENST00000306014	Transcript			estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	ENSG00000123064	g.chr12:113600992G>T	20084			LOW								--	--	1																																		DDX54_uc001tuq.3_Silent_p.R676R	1				p.R676R	NM_024072	NP_076977			1	DDX54_HUMAN	DDX54	HGNC	Q8TDD1	DDX54_HUMAN			F8VRX4_HUMAN		16	2054	-			UPI00003588F0	676					SNV	DDX54,synonymous_variant,p.=,ENST00000314045,NM_001111322.1;DDX54,synonymous_variant,p.=,ENST00000306014,NM_024072.3;DDX54,synonymous_variant,p.=,ENST00000546898,;CCDC42B,downstream_gene_variant,,ENST00000335621,NM_001144872.1;DDX54,non_coding_transcript_exon_variant,,ENST00000550016,;DDX54,upstream_gene_variant,,ENST00000549271,;DDX54,upstream_gene_variant,,ENST00000551912,;DDX54,non_coding_transcript_exon_variant,,ENST00000548786,;CCDC42B,downstream_gene_variant,,ENST00000551256,;AC089999.1,downstream_gene_variant,,ENST00000417436,;	uc001tup.2	c.2026C>A	2054/4377	1	1			c.2026C>A						12	SNP	c.(2026-2028)CGG>AGG	15	15			skin(2)|central_nervous_system(1)	3	Broad	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54			113600992		0.667	ENSG00000123064	4295	g.chr12:113600992G>T	estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity							-8.666954	KEEP	2	3	0.4	31	39	2	3	0.4	6.397916	31	39	0.044118	1	0	0	0	0	0	0	1	0	--	--		0	T			DDX54_uc001tuq.3_Silent_p.R676R	194	GBM-27-1835-TP	p.R676R	G	TCCTGGTCCCGCTGCCGGGCC	NM_024072	NP_076977	113600992	Q8TDD1	DDX54_HUMAN	0			16	2054	-	T	T			Silent	676						
DDX56	0	broad.mit.edu	GRCh37	7	44611974	44611974	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2499-01	TCGA-28-2499-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258772.5:c.617C>T	p.Ala206Val	p.A206V	ENST00000258772	NM_001257189.1	206	gCa/gTa	0			1			A	A/V	uc003tlg.2	protein_coding	YES	CCDS5492.1			617/1644									upper_aerodigestive_tract(1)	1	c.(616-618)GCA>GTA			PROSITE_profiles:PS51192,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF96,Gene3D:3.40.50.300,Pfam_domain:PF00270,SMART_domains:SM00487,Superfamily_domains:SSF52540	DEAD (Asp-Glu-Ala-Asp) box polypeptide 56				ENSP00000258772		14-May									COSM3412087	14-May	.		ENST00000258772	Transcript			rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	ENSG00000136271	g.chr7:44611974G>A	18193			MODERATE		1.365	low	getma.org/?cm=msa&ty=f&p=DDX56_HUMAN&rb=31&re=207&var=A206V	getma.org/pdb.php?prot=DDX56_HUMAN&from=31&to=207&var=A206V	getma.org/?cm=var&var=hg19,7,44611974,G,A&fts=all	A206V	--	--	1																																		DDX56_uc003tle.2_RNA|DDX56_uc003tlf.2_Missense_Mutation_p.A142V|DDX56_uc003tlh.2_RNA|DDX56_uc010kyg.2_Missense_Mutation_p.A206V|DDX56_uc010kyh.1_RNA	1	1		benign(0.061)	p.A206V	NM_019082	NP_061955		tolerated(0.11)	1	DDX56_HUMAN	DDX56	HGNC	Q9NY93	DDX56_HUMAN			G3V0G3_HUMAN		5	1260	-			UPI0000037BB1	206			Helicase ATP-binding.		SNV	DDX56,missense_variant,p.Ala206Val,ENST00000258772,NM_001257189.1,NM_019082.3;DDX56,missense_variant,p.Ala206Val,ENST00000431640,;DDX56,upstream_gene_variant,,ENST00000448192,;DDX56,non_coding_transcript_exon_variant,,ENST00000485367,;DDX56,non_coding_transcript_exon_variant,,ENST00000467318,;DDX56,upstream_gene_variant,,ENST00000479602,;DDX56,missense_variant,p.Ala206Val,ENST00000421223,;DDX56,missense_variant,p.Ala160Val,ENST00000433257,;DDX56,3_prime_UTR_variant,,ENST00000446987,;DDX56,3_prime_UTR_variant,,ENST00000415758,;DDX56,downstream_gene_variant,,ENST00000479440,;DDX56,upstream_gene_variant,,ENST00000473924,;	uc003tlg.2	c.617C>T	724/2336	2	2			c.617C>T						7	SNP	c.(616-618)GCA>GTA	41	41			upper_aerodigestive_tract(1)	1	Broad	DEAD (Asp-Glu-Ala-Asp) box polypeptide 56			44611974		0.473	ENSG00000136271	4297	g.chr7:44611974G>A	rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding							71.12139	KEEP	18	20	-1	56	62	18	20	-1	80.214554	56	62	0.231884	1	0	0	0	0	1	0	0	0	--	--		0	A			DDX56_uc003tle.2_RNA|DDX56_uc003tlf.2_Missense_Mutation_p.A142V|DDX56_uc003tlh.2_RNA|DDX56_uc010kyg.2_Missense_Mutation_p.A206V|DDX56_uc010kyh.1_RNA	208	GBM-28-2499-TP	p.A206V	G	CTCCTTGAGTGCTTGTACGTC	NM_019082	NP_061955	44611974	Q9NY93	DDX56_HUMAN	0			5	1260	-	A	A			Missense_Mutation	206			Helicase ATP-binding.			
DDX59	83479		GRCh37	1	200635187	200635187	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0151-01	TCGA-06-0151-01																				ENST00000331314.6:c.682C>T	p.Pro228Ser	p.P228S	ENST00000331314	NM_001031725.4	228	Ccc/Tcc	0																																																																																																																																																																																																																																												
DEAF1	10522	broad.mit.edu	GRCh37	11	688025	688025	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01	TCGA-02-2486-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382409.3:c.550G>A	p.Gly184Ser	p.G184S	ENST00000382409	NM_021008.2	184	Ggc/Agc	0	T:0.0002		1			T	G/S	uc001lqq.1	protein_coding	YES	CCDS31327.1			550/1698										0	c.(550-552)GGC>AGC			Low_complexity_(Seg):seg,hmmpanther:PTHR10237	deformed epidermal autoregulatory factor 1			T:0	ENSP00000371846		12-Apr	8.24E-06		8.67E-05						rs371722695,COSM2043222	12-Apr	.		ENST00000382409	Transcript	1		embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding	ENSG00000177030	g.chr11:688025C>T	14677			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=DEAF1_HUMAN&rb=51&re=189&var=G184S	NA	getma.org/?cm=var&var=hg19,11,688025,C,T&fts=all	G184S	--	--	1																																		DEAF1_uc009ycf.1_RNA	0,1	1		possibly_damaging(0.856)	p.G184S	NM_021008	NP_066288		tolerated(0.33)	0,1	DEAF1_HUMAN	DEAF1	HGNC	O75398	DEAF1_HUMAN		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)			4	1243	-		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	UPI00001290E6	184					SNV	DEAF1,missense_variant,p.Gly184Ser,ENST00000382409,NM_021008.2;DEAF1,missense_variant,p.Gly184Ser,ENST00000338675,;DEAF1,non_coding_transcript_exon_variant,,ENST00000525626,;DEAF1,non_coding_transcript_exon_variant,,ENST00000528864,;DEAF1,non_coding_transcript_exon_variant,,ENST00000524786,;DEAF1,upstream_gene_variant,,ENST00000530813,;DEAF1,downstream_gene_variant,,ENST00000529727,;DEAF1,3_prime_UTR_variant,,ENST00000529717,;DEAF1,upstream_gene_variant,,ENST00000527170,;	uc001lqq.1	c.550G>A	1035/2500	2	2			c.550G>A						11	SNP	c.(550-552)GGC>AGC	48	48				0	Broad	deformed epidermal autoregulatory factor 1			688025		0.547	ENSG00000177030	4303	g.chr11:688025C>T	embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding							94.244499	KEEP	19	17	-1	41	32	19	17	-1	96.678714	41	32	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	T			DEAF1_uc009ycf.1_RNA	8	GBM-02-2486-TP	p.G184S	C	TTTTCTTGGCCGGGAGCCAGA	NM_021008	NP_066288	688025	O75398	DEAF1_HUMAN	0		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)	4	1243	-	T	T		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	Missense_Mutation	184						
DECR2	26063	broad.mit.edu	GRCh37	16	455001	455001	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0188-01	TCGA-06-0188-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000219481.5:c.126C>G	p.Phe42Leu	p.F42L	ENST00000219481	NM_020664.3	42	ttC/ttG	0			1			G	F/L	uc002chb.2	protein_coding	YES	CCDS10409.1			126/879										0	c.(124-126)TTC>TTG			hmmpanther:PTHR24315:SF0,hmmpanther:PTHR24315,Gene3D:3.40.50.720,Pfam_domain:PF13561,SMART_domains:SM00822,Superfamily_domains:SSF51735,Prints_domain:PR00081	2,4-dienoyl CoA reductase 2				ENSP00000219481		9-Feb									COSM2150568,COSM2150569	9-Feb	.		ENST00000219481	Transcript				peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding	ENSG00000242612	g.chr16:455001C>G	2754			MODERATE		-0.27	neutral	getma.org/?cm=msa&ty=f&p=DECR2_HUMAN&rb=35&re=272&var=F42L	getma.org/pdb.php?prot=DECR2_HUMAN&from=35&to=272&var=F42L	getma.org/?cm=var&var=hg19,16,455001,C,G&fts=all	F42L	--	--	1																																		DECR2_uc002chc.2_5'UTR|DECR2_uc010bqv.2_5'UTR|DECR2_uc002chd.2_5'UTR|DECR2_uc002che.1_5'Flank	1,1	1		benign(0.119)	p.F42L	NM_020664	NP_065715		tolerated(0.28)	1,1	DECR2_HUMAN	DECR2	HGNC	Q9NUI1	DECR2_HUMAN			Q9H3W9_HUMAN		2	232	+		Hepatocellular(16;0.00015)	UPI000003BBDC	42			NADP (By similarity).		SNV	DECR2,missense_variant,p.Phe42Leu,ENST00000219481,NM_020664.3;DECR2,missense_variant,p.Phe42Leu,ENST00000424398,;DECR2,missense_variant,p.Phe42Leu,ENST00000397710,;NME4,downstream_gene_variant,,ENST00000397722,NM_001286436.1;NME4,downstream_gene_variant,,ENST00000219479,NM_005009.2;NME4,downstream_gene_variant,,ENST00000450036,NM_001286440.1;NME4,downstream_gene_variant,,ENST00000433358,NM_001286435.1;NME4,downstream_gene_variant,,ENST00000382940,;DECR2,non_coding_transcript_exon_variant,,ENST00000461802,;DECR2,upstream_gene_variant,,ENST00000461947,;DECR2,missense_variant,p.Phe42Leu,ENST00000437024,;DECR2,missense_variant,p.Phe42Leu,ENST00000439661,;NME4,missense_variant,p.Ser220Cys,ENST00000444498,;DECR2,missense_variant,p.Phe42Leu,ENST00000445291,;DECR2,upstream_gene_variant,,ENST00000461749,;NME4,downstream_gene_variant,,ENST00000468031,;NME4,downstream_gene_variant,,ENST00000460297,;NME4,downstream_gene_variant,,ENST00000448828,NM_001286438.1,NM_001286439.1;DECR2,upstream_gene_variant,,ENST00000429116,;DECR2,upstream_gene_variant,,ENST00000465166,;	uc002chb.2	c.126C>G	264/1615	3	3			c.126C>G						16	SNP	c.(124-126)TTC>TTG	59	59				0	Broad	2,4-dienoyl CoA reductase 2			455001		0.517	ENSG00000242612	4306	g.chr16:455001C>G		peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding							232.376607	KEEP	40	46	-1	76	79	40	46	-1	236.69876	76	79	0.344828	1	0	0	0	0	1	0	0	0	--	--		0	G			DECR2_uc002chc.2_5'UTR|DECR2_uc010bqv.2_5'UTR|DECR2_uc002chd.2_5'UTR|DECR2_uc002che.1_5'Flank	41	GBM-06-0188-TP	p.F42L	C	GGATTGGGTTCCGGATTGCTG	NM_020664	NP_065715	455001	Q9NUI1	DECR2_HUMAN	0			2	232	+	G	G		Hepatocellular(16;0.00015)	Missense_Mutation	42			NADP (By similarity).			
DECR2	0	broad.mit.edu	GRCh37	16	460737	460737	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01	TCGA-32-1977-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000219481.5:c.509G>A	p.Arg170Gln	p.R170Q	ENST00000219481	NM_020664.3	170	cGg/cAg	0	A:0		1			A	R/Q	uc002chb.2	protein_coding	YES	CCDS10409.1			509/879										0	c.(508-510)CGG>CAG			hmmpanther:PTHR24315:SF0,hmmpanther:PTHR24315,Gene3D:3.40.50.720,Pfam_domain:PF13561,SMART_domains:SM00822,Superfamily_domains:SSF51735	2,4-dienoyl CoA reductase 2			A:0.0001	ENSP00000219481		9-Jun	4.15E-05					0.000116			rs370736528,COSM3402329	9-Jun	.		ENST00000219481	Transcript				peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding	ENSG00000242612	g.chr16:460737G>A	2754			MODERATE		1.095	low	getma.org/?cm=msa&ty=f&p=DECR2_HUMAN&rb=35&re=272&var=R170Q	getma.org/pdb.php?prot=DECR2_HUMAN&from=35&to=272&var=R170Q	getma.org/?cm=var&var=hg19,16,460737,G,A&fts=all	R170Q	--	--	1																																		DECR2_uc002chc.2_Missense_Mutation_p.R86Q|DECR2_uc010bqv.2_Missense_Mutation_p.R86Q|DECR2_uc002chd.2_Missense_Mutation_p.R86Q|DECR2_uc002che.1_RNA	0,1	1		benign(0.298)	p.R170Q	NM_020664	NP_065715		tolerated(0.07)	0,1	DECR2_HUMAN	DECR2	HGNC	Q9NUI1	DECR2_HUMAN			Q9H3W9_HUMAN		6	615	+		Hepatocellular(16;0.00015)	UPI000003BBDC	170					SNV	DECR2,missense_variant,p.Arg170Gln,ENST00000219481,NM_020664.3;DECR2,missense_variant,p.Arg158Gln,ENST00000424398,;DECR2,downstream_gene_variant,,ENST00000397710,;DECR2,non_coding_transcript_exon_variant,,ENST00000461947,;DECR2,downstream_gene_variant,,ENST00000461802,;DECR2,3_prime_UTR_variant,,ENST00000437024,;DECR2,3_prime_UTR_variant,,ENST00000439661,;DECR2,3_prime_UTR_variant,,ENST00000445291,;DECR2,3_prime_UTR_variant,,ENST00000429116,;DECR2,non_coding_transcript_exon_variant,,ENST00000461749,;DECR2,non_coding_transcript_exon_variant,,ENST00000469922,;NME4,downstream_gene_variant,,ENST00000444498,;DECR2,downstream_gene_variant,,ENST00000465166,;	uc002chb.2	c.509G>A	647/1615	1	1			c.509G>A						16	SNP	c.(508-510)CGG>CAG	54	54				0	Broad	2,4-dienoyl CoA reductase 2			460737		0.701	ENSG00000242612	4306	g.chr16:460737G>A		peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding							17.306584	KEEP	4	6	-1	27	11	4	6	-1	19.834575	27	11	0.212121	1	0	0	0	0	1	0	0	0	--	--		0	A			DECR2_uc002chc.2_Missense_Mutation_p.R86Q|DECR2_uc010bqv.2_Missense_Mutation_p.R86Q|DECR2_uc002chd.2_Missense_Mutation_p.R86Q|DECR2_uc002che.1_RNA	229	GBM-32-1977-TP	p.R170Q	G	CTGGGGAACCGGGGGCAGGCG	NM_020664	NP_065715	460737	Q9NUI1	DECR2_HUMAN	0			6	615	+	A	A		Hepatocellular(16;0.00015)	Missense_Mutation	170						
DEDD	0	broad.mit.edu	GRCh37	1	161094314	161094314	+	splice_region_variant,5_prime_UTR_variant	Splice_Region	SNP	G	G	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368006.3:c.-62C>T		p.X21_splice	ENST00000368006	NM_032998.2			0		A:0	1	A:0		A		uc001fxz.2	protein_coding	YES	CCDS1219.1			-/957										0	c.(-63--59)TACGG>TATGG				death effector domain-containing protein		A:0.001		ENSP00000356985	A:0	6-Mar									rs569361856	6-Mar	.		ENST00000368006	Transcript		A:0.0002	apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	ENSG00000158796	g.chr1:161094314G>A	2755			LOW								--	--	1																																		NIT1_uc001fxw.2_3'UTR|DEDD_uc009wty.2_Translation_Start_Site|DEDD_uc001fya.2_Translation_Start_Site|DEDD_uc001fyb.2_Translation_Start_Site|DEDD_uc010pkb.1_Translation_Start_Site|DEDD_uc001fyc.2_Intron		1				NM_001039712	NP_001034801	A:0			DEDD_HUMAN	DEDD	HGNC	O75618	DEDD_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)				3	112	-	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		UPI0000031CE9						SNV	DEDD,splice_region_variant,,ENST00000392188,;DEDD,splice_region_variant,,ENST00000368006,NM_032998.2;DEDD,splice_region_variant,,ENST00000545495,NM_001039711.1;DEDD,splice_region_variant,,ENST00000458050,NM_001039712.1;DEDD,splice_region_variant,,ENST00000490843,;DEDD,splice_region_variant,,ENST00000368005,;DEDD,splice_region_variant,,ENST00000464113,;NIT1,3_prime_UTR_variant,,ENST00000368008,NM_001185092.1;NIT1,downstream_gene_variant,,ENST00000368007,NM_001185093.1;NIT1,downstream_gene_variant,,ENST00000392190,NM_001185094.1;NIT1,downstream_gene_variant,,ENST00000368009,NM_005600.2;DEDD,splice_region_variant,,ENST00000486041,;DEDD,splice_region_variant,,ENST00000463227,;DEDD,splice_region_variant,,ENST00000496632,;DEDD,splice_region_variant,,ENST00000473679,;NIT1,non_coding_transcript_exon_variant,,ENST00000479728,;DEDD,intron_variant,,ENST00000489249,;DEDD,intron_variant,,ENST00000472996,;NIT1,downstream_gene_variant,,ENST00000496861,;NIT1,downstream_gene_variant,,ENST00000491497,;NIT1,downstream_gene_variant,,ENST00000485594,;NIT1,downstream_gene_variant,,ENST00000492411,;NIT1,downstream_gene_variant,,ENST00000496768,;NIT1,downstream_gene_variant,,ENST00000461376,;NIT1,downstream_gene_variant,,ENST00000479266,;NIT1,downstream_gene_variant,,ENST00000486962,;NIT1,downstream_gene_variant,,ENST00000477684,;	uc001fxz.2	c.-61C>T	154/2345	1	1			c.-61C>T						1	SNP	c.(-63--59)TACGG>TATGG	55	55				0	Broad	death effector domain-containing protein			161094314		0.388	ENSG00000158796	4307	g.chr1:161094314G>A	apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding							86.37149	KEEP	16	14	-1	16	10	16	14	-1	86.473401	16	10	0.54717	1	0	0	0	0	0	0	0	0	--	--		0	A			NIT1_uc001fxw.2_3'UTR|DEDD_uc009wty.2_Translation_Start_Site|DEDD_uc001fya.2_Translation_Start_Site|DEDD_uc001fyb.2_Translation_Start_Site|DEDD_uc010pkb.1_Translation_Start_Site|DEDD_uc001fyc.2_Intron	265	GBM-76-4925-TP		G	AATCCCCACCGTACTGAAAGG	NM_001039712	NP_001034801	161094314	O75618	DEDD_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.00165)		3	112	-	A	A	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		Translation_Start_Site							
DEDD2	162989	broad.mit.edu	GRCh37	19	42703643	42703643	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000595337.1:c.928C>T	p.Arg310Cys	p.R310C	ENST00000595337	NM_001270614.1	310	Cgc/Tgc	0			1			A	R/C	uc002osu.1	protein_coding	YES	CCDS12597.1			928/981										0	c.(928-930)CGC>TGC			hmmpanther:PTHR15205,hmmpanther:PTHR15205:SF1	death effector domain-containing  DNA binding				ENSP00000470082		5-May	8.24E-06					1.60E-05			rs746278607,COSM3404285	5-May	.		ENST00000595337	Transcript			activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity	ENSG00000160570	g.chr19:42703643G>A	24450			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=DEDD2_HUMAN&rb=186&re=311&var=R310C	NA	getma.org/?cm=var&var=hg19,19,42703643,G,A&fts=all	R310C	--	--	1																																		DEDD2_uc002osv.1_RNA|DEDD2_uc002osw.1_Missense_Mutation_p.R305C|DEDD2_uc002osx.1_3'UTR|DEDD2_uc002osy.1_Missense_Mutation_p.R310C	0,1	1		benign(0.217)	p.R310C	NM_133328	NP_579874		deleterious(0.01)	0,1	DEDD2_HUMAN	DEDD2	HGNC	Q8WXF8	DEDD2_HUMAN			M0QYK9_HUMAN		5	996	-		Prostate(69;0.0704)	UPI0000046657	310					SNV	DEDD2,missense_variant,p.Arg310Cys,ENST00000595337,NM_001270614.1;DEDD2,missense_variant,p.Arg305Cys,ENST00000336034,NM_001270615.1,NM_133328.3;DEDD2,missense_variant,p.Arg310Cys,ENST00000596251,;DEDD2,downstream_gene_variant,,ENST00000598727,;DEDD2,non_coding_transcript_exon_variant,,ENST00000593804,;DEDD2,non_coding_transcript_exon_variant,,ENST00000601135,;DEDD2,downstream_gene_variant,,ENST00000602075,;DEDD2,downstream_gene_variant,,ENST00000598415,;POU2F2,upstream_gene_variant,,ENST00000532176,;DEDD2,downstream_gene_variant,,ENST00000602201,;DEDD2,downstream_gene_variant,,ENST00000600559,;DEDD2,downstream_gene_variant,,ENST00000593561,;DEDD2,downstream_gene_variant,,ENST00000598090,;	uc002osu.1	c.928C>T	1016/1894	1	1			c.928C>T						19	SNP	c.(928-930)CGC>TGC	64	64				0	Broad	death effector domain-containing  DNA binding			42703643		0.672	ENSG00000160570	4308	g.chr19:42703643G>A	activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity							-2.848427	KEEP	2	2	-1	20	37	2	2	-1	7.931858	20	37	0.070175	1	0	0	0	0	1	0	0	0	--	--		0	A			DEDD2_uc002osv.1_RNA|DEDD2_uc002osw.1_Missense_Mutation_p.R305C|DEDD2_uc002osx.1_3'UTR|DEDD2_uc002osy.1_Missense_Mutation_p.R310C	102	GBM-06-5858-TP	p.R310C	G	AGCAACAGGCGGCGCCGGCCA	NM_133328	NP_579874	42703643	Q8WXF8	DEDD2_HUMAN	0			5	996	-	A	A		Prostate(69;0.0704)	Missense_Mutation	310						
DEF6	0	broad.mit.edu	GRCh37	6	35280250	35280250	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316637.5:c.595C>T	p.Arg199Trp	p.R199W	ENST00000316637	NM_022047.3	199	Cgg/Tgg	0			1			T	R/W	uc003okk.2	protein_coding	YES	CCDS4802.1			595/1896										0	c.(595-597)CGG>TGG			hmmpanther:PTHR14383,hmmpanther:PTHR14383:SF2	differentially expressed in FDCP 6 homolog				ENSP00000319831		11-Apr	3.29E-05					6.07E-05			rs764306600,COSM1546477	11-Apr	.		ENST00000316637	Transcript				cytoplasm|nucleus|plasma membrane		ENSG00000023892	g.chr6:35280250C>T	2760			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=DEFI6_HUMAN&rb=1&re=200&var=R199W	NA	getma.org/?cm=var&var=hg19,6,35280250,C,T&fts=all	R199W	--	--	1																																		DEF6_uc010jvs.2_Missense_Mutation_p.R199W|DEF6_uc010jvt.2_Intron	0,1	1		possibly_damaging(0.613)	p.R199W	NM_022047	NP_071330		deleterious(0.01)	0,1	DEFI6_HUMAN	DEF6	HGNC	Q9H4E7	DEFI6_HUMAN					4	634	+			UPI000006E74E	199					SNV	DEF6,missense_variant,p.Arg199Trp,ENST00000316637,NM_022047.3;DEF6,missense_variant,p.Arg108Trp,ENST00000444278,;DEF6,intron_variant,,ENST00000542066,;	uc003okk.2	c.595C>T	600/2262	2	2			c.595C>T						6	SNP	c.(595-597)CGG>TGG	34	34				0	Broad	differentially expressed in FDCP 6 homolog			35280250		0.652	ENSG00000023892	4309	g.chr6:35280250C>T		cytoplasm|nucleus|plasma membrane								79.63897	KEEP	14	15	-1	25	26	14	15	-1	80.483064	25	26	0.380282	1	0	0	0	0	1	0	0	0	--	--		0	T			DEF6_uc010jvs.2_Missense_Mutation_p.R199W|DEF6_uc010jvt.2_Intron	230	GBM-32-1979-TP	p.R199W	C	GGGCGTGGGCCGGGACACCCT	NM_022047	NP_071330	35280250	Q9H4E7	DEFI6_HUMAN	0			4	634	+	T	T			Missense_Mutation	199						
DEF6	0	broad.mit.edu	GRCh37	6	35280172	35280172	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01	TCGA-32-4208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316637.5:c.517G>A	p.Ala173Thr	p.A173T	ENST00000316637	NM_022047.3	173	Gcc/Acc	0			1			A	A/T	uc003okk.2	protein_coding	YES	CCDS4802.1			517/1896										0	c.(517-519)GCC>ACC			Low_complexity_(Seg):seg,hmmpanther:PTHR14383,hmmpanther:PTHR14383:SF2	differentially expressed in FDCP 6 homolog				ENSP00000319831		11-Apr									COSM3411029	11-Apr	.		ENST00000316637	Transcript				cytoplasm|nucleus|plasma membrane		ENSG00000023892	g.chr6:35280172G>A	2760			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=DEFI6_HUMAN&rb=1&re=200&var=A173T	NA	getma.org/?cm=var&var=hg19,6,35280172,G,A&fts=all	A173T	--	--	1																																		DEF6_uc010jvs.2_Missense_Mutation_p.A173T|DEF6_uc010jvt.2_Intron	1	1		benign(0.003)	p.A173T	NM_022047	NP_071330		tolerated(0.57)	1	DEFI6_HUMAN	DEF6	HGNC	Q9H4E7	DEFI6_HUMAN					4	556	+			UPI000006E74E	173					SNV	DEF6,missense_variant,p.Ala173Thr,ENST00000316637,NM_022047.3;DEF6,missense_variant,p.Ala82Thr,ENST00000444278,;DEF6,intron_variant,,ENST00000542066,;	uc003okk.2	c.517G>A	522/2262	1	1			c.517G>A						6	SNP	c.(517-519)GCC>ACC	62	62				0	Broad	differentially expressed in FDCP 6 homolog			35280172		0.647	ENSG00000023892	4309	g.chr6:35280172G>A		cytoplasm|nucleus|plasma membrane								-39.564277	KEEP	3	2	-1	108	121	3	2	-1	7.85577	108	121	0.026178	1	0	0	0	0	1	0	0	0	--	--		0	A			DEF6_uc010jvs.2_Missense_Mutation_p.A173T|DEF6_uc010jvt.2_Intron	243	GBM-32-4208-TP	p.A173T	G	GGCCCAGGTGGCCCAGACCAC	NM_022047	NP_071330	35280172	Q9H4E7	DEFI6_HUMAN	0			4	556	+	A	A			Missense_Mutation	173						
DEFA4	0	broad.mit.edu	GRCh37	8	6794410	6794410	+	synonymous_variant	Silent	SNP	G	G	A	rs61749084	byFrequency	TCGA-32-1991-01	TCGA-32-1991-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297435.2:c.12C>T	p.Ile4=	p.I4=	ENST00000297435	NM_001925.1	4	atC/atT	0	T:0.003	T:0.0008	1	T:0		A	I	uc003wqu.1	protein_coding	YES	CCDS5961.1			12/294									large_intestine(1)	1	c.(10-12)ATC>ATT			Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11876:SF23,hmmpanther:PTHR11876,Pfam_domain:PF00879,PIRSF_domain:PIRSF001875	defensin, alpha 4 preproprotein		T:0	T:0	ENSP00000297435	T:0	3-Feb	6.59E-05	0.000216	0.000205			5.11E-05		7.43E-05	rs61749084,COSM234609	3-Feb	.		ENST00000297435	Transcript		T:0.0002	defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		ENSG00000164821	g.chr8:6794410G>A	2763			LOW								--	--	1																																			0,1	1			p.I4I	NM_001925	NP_001916	T:0		0,1	DEF4_HUMAN	DEFA4	HGNC	P12838	DEF4_HUMAN		COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)	Q6EZF8_HUMAN		2	63	-			UPI0000034C36	4					SNV	DEFA4,synonymous_variant,p.=,ENST00000297435,NM_001925.1;	uc003wqu.1	c.12C>T	137/617	1	1			c.12C>T						8	SNP	c.(10-12)ATC>ATT	51	51			large_intestine(1)	1	Broad	defensin, alpha 4 preproprotein			6794410		0.622	ENSG00000164821	4314	g.chr8:6794410G>A	defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space								44.981512	KEEP	6	11	-1	12	26	6	11	-1	46.290315	12	26	0.326531	1	0	0	0	0	0	0	1	0	--	--		0	A				234	GBM-32-1991-TP	p.I4I	G	CGAGGAGGGCGATAATCCTCA	NM_001925	NP_001916	6794410	P12838	DEF4_HUMAN	0		COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)	2	63	-	A	A			Silent	4						
DEFB110	245913	broad.mit.edu	GRCh37	6	49976918	49976918	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-02-0047-01	TCGA-02-0047-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393660.2:c.122C>A	p.Thr41Lys	p.T41K	ENST00000393660	NM_001037728.2	41	aCg/aAg	0			1			T	T/K	uc011dwr.1	protein_coding		CCDS43473.1			122/189									ovary(1)	1	c.(121-123)ACG>AAG			Pfam_domain:PF13841	beta-defensin 110 isoform b				ENSP00000377270		2-Feb									COSM3411168	2-Feb	.		ENST00000393660	Transcript			defense response to bacterium	extracellular region		ENSG00000203970	g.chr6:49976918G>T	18091			MODERATE								--	--	1																																			1	1		probably_damaging(0.977)	p.T41K	NM_001037728	NP_001032817		deleterious_low_confidence(0.04)	1	DB110_HUMAN	DEFB110	HGNC	Q30KQ9	DB110_HUMAN					2	168	-	Lung NSC(77;0.042)		UPI00005E4A6F	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					SNV	DEFB110,missense_variant,p.Thr41Lys,ENST00000393660,NM_001037728.2;	uc011dwr.1	c.122C>A	122/189	2	2			c.122C>A						6	SNP	c.(121-123)ACG>AAG	18	18			ovary(1)	1	Broad	beta-defensin 110 isoform b			49976918		0.333	ENSG00000203970	4323	g.chr6:49976918G>T	defense response to bacterium	extracellular region								5.189518	KEEP	12	5	0.705882353	89	67	12	5	0.705882353	30.330367	89	67	0.083916	1	0	0	0	0	1	0	0	0	--	--		0	T				3	GBM-02-0047-TP	p.T41K	G	ATCACAAAACGTTTTACATAT	NM_001037728	NP_001032817	49976918	Q30KQ9	DB110_HUMAN	0			2	168	-	T	T	Lung NSC(77;0.042)		Missense_Mutation	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						
DEFB114	0	broad.mit.edu	GRCh37	6	49928111	49928111	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs146020038		TCGA-12-0692-01	TCGA-12-0692-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322066.3:c.104G>A	p.Arg35His	p.R35H	ENST00000322066	NM_001037499.1	35	cGt/cAt	0	A:0.0016	A:0.0023	1	A:0		T	R/H	uc011dwp.1	protein_coding	YES	CCDS34474.1			104/210									ovary(1)	1	c.(103-105)CGT>CAT			Gene3D:3.10.360.10,Pfam_domain:PF13841	beta-defensin 114 precursor		A:0	A:0	ENSP00000312702	A:0	2-Feb	3.30E-05		8.89E-05			4.55E-05			rs146020038,COSM2154295	2-Feb	.		ENST00000322066	Transcript		A:0.0006	defense response to bacterium	extracellular region		ENSG00000177684	g.chr6:49928111C>T	18095			MODERATE								--	--	1																																			0,1	1		benign(0)	p.R35H	NM_001037499	NP_001032588	A:0	tolerated_low_confidence(0.68)	0,1	DB114_HUMAN	DEFB114	HGNC	Q30KQ6	DB114_HUMAN					2	104	-	Lung NSC(77;0.042)		UPI00005E4A73	35					SNV	DEFB114,missense_variant,p.Arg35His,ENST00000322066,NM_001037499.1;	uc011dwp.1	c.104G>A	104/253	1	1			c.104G>A						6	SNP	c.(103-105)CGT>CAT	3	3			ovary(1)	1	Broad	beta-defensin 114 precursor			49928111		0.353	ENSG00000177684	4326	g.chr6:49928111C>T	defense response to bacterium	extracellular region								33.854517	KEEP	6	6	-1	3	3	6	6	-1	34.223333	3	3	0.666667	1	0	0	0	0	1	0	0	0	--	--		0	T				122	GBM-12-0692-TP	p.R35H	C	TCTTTTACAACGACCGTAACG	NM_001037499	NP_001032588	49928111	Q30KQ6	DB114_HUMAN	0			2	104	-	T	T	Lung NSC(77;0.042)		Missense_Mutation	35						
DEFB114	0	broad.mit.edu	GRCh37	6	49928132	49928132	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322066.3:c.83G>A	p.Arg28His	p.R28H	ENST00000322066	NM_001037499.1	28	cGt/cAt	0		T:0.0008	1	T:0		T	R/H	uc011dwp.1	protein_coding	YES	CCDS34474.1			83/210									ovary(1)	1	c.(82-84)CGT>CAT			Gene3D:3.10.360.10,Pfam_domain:PF13841	beta-defensin 114 precursor		T:0		ENSP00000312702	T:0	2-Feb	0.000115	0.000195	8.88E-05	0.000117		9.12E-05		0.000186	rs577162073,COSM3354168	2-Feb	.		ENST00000322066	Transcript		T:0.0002	defense response to bacterium	extracellular region		ENSG00000177684	g.chr6:49928132C>T	18095			MODERATE								--	--	1																																			0,1	1		benign(0.072)	p.R28H	NM_001037499	NP_001032588	T:0	deleterious_low_confidence(0.01)	0,1	DB114_HUMAN	DEFB114	HGNC	Q30KQ6	DB114_HUMAN					2	83	-	Lung NSC(77;0.042)		UPI00005E4A73	28					SNV	DEFB114,missense_variant,p.Arg28His,ENST00000322066,NM_001037499.1;	uc011dwp.1	c.83G>A	83/253	1	1			c.83G>A						6	SNP	c.(82-84)CGT>CAT	6	6			ovary(1)	1	Broad	beta-defensin 114 precursor			49928132		0.353	ENSG00000177684	4326	g.chr6:49928132C>T	defense response to bacterium	extracellular region								120.811773	KEEP	25	26	-1	48	49	25	26	-1	123.664138	48	49	0.33871	1	0	0	0	0	1	0	0	0	--	--		0	T				218	GBM-28-5209-TP	p.R28H	C	TTTGGTGCAACGATCAGCATT	NM_001037499	NP_001032588	49928132	Q30KQ6	DB114_HUMAN	0			2	83	-	T	T	Lung NSC(77;0.042)		Missense_Mutation	28						
DEFB125	245938	broad.mit.edu	GRCh37	20	77035	77035	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0129-01	TCGA-06-0129-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382410.2:c.448C>T	p.Gln150Ter	p.Q150*	ENST00000382410	NM_153325.2	150	Cag/Tag	0			1			T	Q/*	uc002wcw.2	protein_coding	YES	CCDS12989.2			448/471									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(448-450)CAG>TAG				defensin, beta 125 preproprotein				ENSP00000371847		2-Feb									COSM2149517	2-Feb	.		ENST00000382410	Transcript			defense response to bacterium	extracellular region		ENSG00000178591	g.chr20:77035C>T	18105			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,20,77035,C,T&fts=all	Q150*	--	--	1																																			1	1			p.Q150*	NM_153325	NP_697020			1	DB125_HUMAN	DEFB125	HGNC	Q8N687	DB125_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.156)		B2R4E8_HUMAN		2	448	+		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	UPI00001A36DE	150					SNV	DEFB125,stop_gained,p.Gln150Ter,ENST00000382410,NM_153325.2;DEFB125,non_coding_transcript_exon_variant,,ENST00000608838,;	uc002wcw.2	c.448C>T	448/587	5	2			c.448C>T						20	SNP	c.(448-450)CAG>TAG	24	24			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	defensin, beta 125 preproprotein			77035		0.428	ENSG00000178591	4334	g.chr20:77035C>T	defense response to bacterium	extracellular region								538.020613	KEEP	94	110	-1	103	128	94	110	-1	538.321486	103	128	0.47013	1	0	0	0	0	0	1	0	0	--	--		0	T				15	GBM-06-0129-TP	p.Q150*	C	ACCACCTTCTCAGACAGCTCT	NM_153325	NP_697020	77035	Q8N687	DB125_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(29;0.156)		2	448	+	T	T		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	Nonsense_Mutation	150						
DEFB131	0	broad.mit.edu	GRCh37	4	9452176	9452176	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-19-4068-01	TCGA-19-4068-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334879.1:c.149delG	p.Cys50LeufsTer10	p.C50Lfs*10	ENST00000334879	NM_001040448.2	50	tGt/tt	0			1			-	C/X	uc011bwt.1	protein_coding	YES	CCDS43213.1			149/213										0	c.(148-150)TGTfs			Pfam_domain:PF13841,hmmpanther:PTHR15001,hmmpanther:PTHR15001:SF18	defensin, beta 131 precursor				ENSP00000335538		2-Feb									COSM2156466	2-Feb	.		ENST00000334879	Transcript			defense response to bacterium	extracellular region		ENSG00000186146	g.chr4:9452176delG	18108			HIGH								--	--	1																																			1	1			p.C50fs	NM_001040448	NP_001035538			1	DB131_HUMAN	DEFB131	HGNC	P59861	DB131_HUMAN					2	149	+			UPI0000246FB6	50					deletion	DEFB131,frameshift_variant,p.Cys50LeufsTer10,ENST00000334879,NM_001040448.2,NM_001242853.1;	uc011bwt.1	c.149delG	149/213	5	5			c.149delG						4	DEL	c.(148-150)TGTfs	50	50				0	Broad	defensin, beta 131 precursor			9452176		0.383	ENSG00000186146	4339	g.chr4:9452176delG	defense response to bacterium	extracellular region																					0.37	1	1	0	1	0	0	0	0	0	--	--		0	-				168	GBM-19-4068-TP	p.C50fs	G	ATTAGATACTGTGCTGACTTC	NM_001040448	NP_001035538	9452176	P59861	DB131_HUMAN	0			2	149	+	-	-			Frame_Shift_Del	50						
DEFB135	613209	broad.mit.edu	GRCh37	8	11842018	11842018	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0122-01	TCGA-06-0122-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382208.2:c.153C>G	p.Asn51Lys	p.N51K	ENST00000382208	NM_001033017.2	51	aaC/aaG	0			1			G	N/K	uc003wuw.1	protein_coding	YES	CCDS43710.1			153/234										0	c.(151-153)AAC>AAG			hmmpanther:PTHR15001,hmmpanther:PTHR15001:SF21,Pfam_domain:PF13841	beta-defensin 135 precursor				ENSP00000371643		2-Feb	1.66E-05	0.000102				1.50E-05			rs368213237,COSM2149203	2-Feb	.		ENST00000382208	Transcript			defense response to bacterium	extracellular region		ENSG00000205883	g.chr8:11842018C>G	32400			MODERATE								--	--	1																																			0,1	1		benign(0.002)	p.N51K	NM_001033017	NP_001028189		tolerated(0.46)	0,1	DB135_HUMAN	DEFB135	HGNC	Q30KP9	DB135_HUMAN					2	153	+			UPI0000591BA1	51					SNV	DEFB135,missense_variant,p.Asn51Lys,ENST00000382208,NM_001033017.2;	uc003wuw.1	c.153C>G	153/234	3	3			c.153C>G						8	SNP	c.(151-153)AAC>AAG	16	16				0	Broad	beta-defensin 135 precursor			11842018		0.383	ENSG00000205883	4342	g.chr8:11842018C>G	defense response to bacterium	extracellular region								127.267261	KEEP	31	12	-1	52	53	31	12	-1	133.3	52	53	0.284722	1	0	0	0	0	1	0	0	0	--	--		0	G				10	GBM-06-0122-TP	p.N51K	C	GTCTAAAAAACGAACAATATC	NM_001033017	NP_001028189	11842018	Q30KP9	DB135_HUMAN	0			2	153	+	G	G			Missense_Mutation	51						
DENND1A	0	broad.mit.edu	GRCh37	9	126219637	126219637	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373624.2:c.1176C>T	p.Gly392=	p.G392=	ENST00000373624	NM_020946.1	392	ggC/ggT	0			1			A	G	uc004bnz.1	protein_coding	YES	CCDS35133.1			1176/3030									ovary(2)	2	c.(1174-1176)GGC>GGT			hmmpanther:PTHR13196,hmmpanther:PTHR13196:SF22	DENN/MADD domain containing 1A isoform 1				ENSP00000362727		15/22	8.24E-06					1.50E-05			rs747557895,COSM2155204,COSM2155206,COSM3413327,COSM2155205	15/22	.		ENST00000373624	Transcript				cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	ENSG00000119522	g.chr9:126219637G>A	29324			LOW								--	--	1																																		DENND1A_uc011lzl.1_Silent_p.G167G|DENND1A_uc004bny.1_Intron|DENND1A_uc011lzm.1_Silent_p.G360G|DENND1A_uc004boa.1_Silent_p.G392G|DENND1A_uc004bob.1_Silent_p.G362G|DENND1A_uc004boc.2_Silent_p.G360G	0,1,1,1,1	1			p.G392G	NM_020946	NP_065997			0,1,1,1,1	DEN1A_HUMAN	DENND1A	HGNC	Q8TEH3	DEN1A_HUMAN					15	1409	-			UPI00004589D2	392					SNV	DENND1A,synonymous_variant,p.=,ENST00000373624,NM_020946.1;DENND1A,synonymous_variant,p.=,ENST00000373620,NM_024820.2;DENND1A,synonymous_variant,p.=,ENST00000394219,;DENND1A,synonymous_variant,p.=,ENST00000373618,;DENND1A,synonymous_variant,p.=,ENST00000542603,;DENND1A,synonymous_variant,p.=,ENST00000394215,;DENND1A,non_coding_transcript_exon_variant,,ENST00000497135,;DENND1A,non_coding_transcript_exon_variant,,ENST00000491650,;DENND1A,non_coding_transcript_exon_variant,,ENST00000479305,;DENND1A,non_coding_transcript_exon_variant,,ENST00000462245,;DENND1A,intron_variant,,ENST00000473039,;	uc004bnz.1	c.1176C>T	1378/5010	1	1			c.1176C>T						9	SNP	c.(1174-1176)GGC>GGT	54	54			ovary(2)	2	Broad	DENN/MADD domain containing 1A isoform 1			126219637		0.438	ENSG00000119522	4349	g.chr9:126219637G>A		cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity							263.902243	KEEP	49	56	-1	93	103	49	56	-1	268.539385	93	103	0.357692	1	0	0	0	0	0	0	1	0	--	--		0	A			DENND1A_uc011lzl.1_Silent_p.G167G|DENND1A_uc004bny.1_Intron|DENND1A_uc011lzm.1_Silent_p.G360G|DENND1A_uc004boa.1_Silent_p.G392G|DENND1A_uc004bob.1_Silent_p.G362G|DENND1A_uc004boc.2_Silent_p.G360G	142	GBM-14-1034-TP	p.G392G	G	CAGCGTACTCGCCCATGTTGA	NM_020946	NP_065997	126219637	Q8TEH3	DEN1A_HUMAN	0			15	1409	-	A	A			Silent	392						
DENND1B	0	broad.mit.edu	GRCh37	1	197522236	197522236	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0787-01	TCGA-14-0787-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367396.3:c.1156G>A	p.Asp386Asn	p.D386N	ENST00000367396	NM_144977.4	386	Gat/Aat	0			1			T	D/N	uc001guf.3	protein_coding	YES	CCDS41452.2			1156/1281										0	c.(1156-1158)GAT>AAT			Pfam_domain:PF03455,PROSITE_profiles:PS50947,hmmpanther:PTHR13196,hmmpanther:PTHR13196:SF24,SMART_domains:SM00801	DENN/MADD domain containing 1B isoform 2				ENSP00000356366		16/16	8.28E-06		8.90E-05						rs756328709,COSM3400164,COSM3400163,COSM3400165	16/16	.		ENST00000367396	Transcript				clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	ENSG00000213047	g.chr1:197522236C>T	28404			MODERATE		2.445	medium	getma.org/?cm=msa&ty=f&p=DEN1B_HUMAN&rb=322&re=388&var=D386N	getma.org/pdb.php?prot=DEN1B_HUMAN&from=322&to=388&var=D386N	getma.org/?cm=var&var=hg19,1,197522236,C,T&fts=all	D386N	--	--	1																																		DENND1B_uc010ppe.1_Missense_Mutation_p.D366N|DENND1B_uc010ppf.1_Intron|DENND1B_uc001gue.3_Missense_Mutation_p.D356N	0,1,1,1	1		benign(0.089)	p.D386N	NM_144977	NP_659414		tolerated(0.08)	0,1,1,1	DEN1B_HUMAN	DENND1B	HGNC	Q6P3S1	DEN1B_HUMAN					16	1494	-			UPI0000227E74	386			dDENN.		SNV	DENND1B,missense_variant,p.Asp26Asn,ENST00000391979,NM_001195215.1;DENND1B,missense_variant,p.Asp356Asn,ENST00000235453,;DENND1B,missense_variant,p.Asp386Asn,ENST00000367396,NM_144977.4;DENND1B,missense_variant,p.Asp356Asn,ENST00000400967,;DENND1B,intron_variant,,ENST00000294737,;	uc001guf.3	c.1156G>A	1326/2177	1	1			c.1156G>A						1	SNP	c.(1156-1158)GAT>AAT	5	5				0	Broad	DENN/MADD domain containing 1B isoform 2			197522236		0.303	ENSG00000213047	4350	g.chr1:197522236C>T		clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity							18.672034	KEEP	5	10	-1	37	36	5	10	-1	28.840382	37	36	0.1375	1	0	0	0	0	1	0	0	0	--	--		0	T			DENND1B_uc010ppe.1_Missense_Mutation_p.D366N|DENND1B_uc010ppf.1_Intron|DENND1B_uc001gue.3_Missense_Mutation_p.D356N	135	GBM-14-0787-TP	p.D386N	C	AGTCGACCATCGATAAACTAG	NM_144977	NP_659414	197522236	Q6P3S1	DEN1B_HUMAN	0			16	1494	-	T	T			Missense_Mutation	386			dDENN.			
DENND1C	0	broad.mit.edu	GRCh37	19	6472910	6472910	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-76-4931-01	TCGA-76-4931-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381480.2:c.1148T>G	p.Leu383Arg	p.L383R	ENST00000381480	NM_024898.2	383	cTg/cGg	0			1			C	L/R	uc002mfe.2	protein_coding	YES	CCDS45938.1			1148/2406									large_intestine(1)	1	c.(1147-1149)CTG>CGG			Pfam_domain:PF03455,PROSITE_profiles:PS50947,hmmpanther:PTHR13196,hmmpanther:PTHR13196:SF21,SMART_domains:SM00801	DENN/MADD domain containing 1C				ENSP00000370889		15/23									COSM3404743,COSM3404742	15/23	.		ENST00000381480	Transcript				clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	ENSG00000205744	g.chr19:6472910A>C	26225			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=DEN1C_HUMAN&rb=324&re=391&var=L383R	getma.org/pdb.php?prot=DEN1C_HUMAN&from=324&to=391&var=L383R	getma.org/?cm=var&var=hg19,19,6472910,A,C&fts=all	L383R	--	--	1																																		DENND1C_uc002mfb.2_5'UTR|DENND1C_uc002mfc.2_5'UTR|DENND1C_uc002mfd.2_5'UTR|DENND1C_uc010xje.1_Missense_Mutation_p.L339R	1,1	1		probably_damaging(0.988)	p.L383R	NM_024898	NP_079174		deleterious(0)	1,1	DEN1C_HUMAN	DENND1C	HGNC	Q8IV53	DEN1C_HUMAN			K7ENM0_HUMAN,K7EMN9_HUMAN,K7EM80_HUMAN,K7EKL5_HUMAN,B3KP66_HUMAN		15	1240	-			UPI000007469C	383			dDENN.		SNV	DENND1C,missense_variant,p.Leu383Arg,ENST00000381480,NM_024898.2;DENND1C,missense_variant,p.Leu339Arg,ENST00000543576,;DENND1C,downstream_gene_variant,,ENST00000590173,;DENND1C,downstream_gene_variant,,ENST00000590473,;DENND1C,downstream_gene_variant,,ENST00000588421,;DENND1C,downstream_gene_variant,,ENST00000591030,;DENND1C,3_prime_UTR_variant,,ENST00000590867,;DENND1C,non_coding_transcript_exon_variant,,ENST00000590444,;DENND1C,non_coding_transcript_exon_variant,,ENST00000590818,;DENND1C,downstream_gene_variant,,ENST00000592543,;DENND1C,upstream_gene_variant,,ENST00000591795,;DENND1C,downstream_gene_variant,,ENST00000586046,;DENND1C,downstream_gene_variant,,ENST00000589491,;DENND1C,downstream_gene_variant,,ENST00000588988,;	uc002mfe.2	c.1148T>G	1261/2816	4	4			c.1148T>G						19	SNP	c.(1147-1149)CTG>CGG	35	35			large_intestine(1)	1	Broad	DENN/MADD domain containing 1C			6472910		0.627	ENSG00000205744	4351	g.chr19:6472910A>C		clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity							20.078482	KEEP	2	4	-1	1	2	2	4	-1	20.367213	1	2	0.714286	1	0	0	0	0	1	0	0	0	--	--		0	C			DENND1C_uc002mfb.2_5'UTR|DENND1C_uc002mfc.2_5'UTR|DENND1C_uc002mfd.2_5'UTR|DENND1C_uc010xje.1_Missense_Mutation_p.L339R	270	GBM-76-4931-TP	p.L383R	A	CTGTTTGAACAGCTGCAGGTG	NM_024898	NP_079174	6472910	Q8IV53	DEN1C_HUMAN	0			15	1240	-	C	C			Missense_Mutation	383			dDENN.			
DENND1C	79958		GRCh37	19	6479059	6479059	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000381480.2:c.185C>T	p.Pro62Leu	p.P62L	ENST00000381480	NM_024898.2	62	cCc/cTc	0																																																																																																																																																																																																																																												
DENND2A	27147	broad.mit.edu	GRCh37	7	140267052	140267052	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0747-01	TCGA-06-0747-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275884.6:c.1613A>G	p.Asn538Ser	p.N538S	ENST00000275884		538	aAc/aGc	0			1			C	N/S	uc010lnj.2	protein_coding	YES	CCDS43659.1			1613/3030									ovary(3)|breast(1)	4	c.(1612-1614)AAC>AGC			hmmpanther:PTHR15288:SF3,hmmpanther:PTHR15288	DENN/MADD domain containing 2A				ENSP00000275884		19-Aug									COSM2151815,COSM3748357	19-Aug	.		ENST00000275884	Transcript						ENSG00000146966	g.chr7:140267052T>C	22212			MODERATE		-0.55	neutral	getma.org/?cm=msa&ty=f&p=DEN2A_HUMAN&rb=401&re=582&var=N538S	NA	getma.org/?cm=var&var=hg19,7,140267052,T,C&fts=all	N538S	--	--	1																																		DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.N538S|DENND2A_uc003vvw.2_Missense_Mutation_p.N538S|DENND2A_uc003vvx.2_Missense_Mutation_p.N538S	1,1	1		benign(0.007)	p.N538S	NM_015689	NP_056504		tolerated(0.55)	1,1	DEN2A_HUMAN	DENND2A	HGNC	Q9ULE3	DEN2A_HUMAN			C9JD15_HUMAN,C9JAA0_HUMAN,C9IYZ8_HUMAN,C9IY76_HUMAN		7	1758	-	Melanoma(164;0.00956)		UPI00001C1E63	538					SNV	DENND2A,missense_variant,p.Asn538Ser,ENST00000275884,;DENND2A,missense_variant,p.Asn538Ser,ENST00000492720,;DENND2A,missense_variant,p.Asn538Ser,ENST00000496613,;DENND2A,missense_variant,p.Asn538Ser,ENST00000537639,NM_015689.3;DENND2A,downstream_gene_variant,,ENST00000475837,;DENND2A,missense_variant,p.Asn538Ser,ENST00000461883,;	uc010lnj.2	c.1613A>G	2031/3735	3	3			c.1613A>G						7	SNP	c.(1612-1614)AAC>AGC	9	9			ovary(3)|breast(1)	4	Broad	DENN/MADD domain containing 2A			140267052		0.383	ENSG00000146966	4352	g.chr7:140267052T>C										53.014054	KEEP	6	14	-1	30	43	6	14	-1	58.005631	30	43	0.233766	1	0	0	0	0	1	0	0	0	--	--		0	C			DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.N538S|DENND2A_uc003vvw.2_Missense_Mutation_p.N538S|DENND2A_uc003vvx.2_Missense_Mutation_p.N538S	68	GBM-06-0747-TP	p.N538S	T	GGACTTCACGTTGACCAGGCG	NM_015689	NP_056504	140267052	Q9ULE3	DEN2A_HUMAN	0			7	1758	-	C	C	Melanoma(164;0.00956)		Missense_Mutation	538						
DENND2A	0	broad.mit.edu	GRCh37	7	140301257	140301257	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275884.6:c.941C>T	p.Ser314Phe	p.S314F	ENST00000275884		314	tCc/tTc	0			1			A	S/F	uc010lnj.2	protein_coding	YES	CCDS43659.1			941/3030									ovary(3)|breast(1)	4	c.(940-942)TCC>TTC			Low_complexity_(Seg):seg,hmmpanther:PTHR15288:SF3,hmmpanther:PTHR15288	DENN/MADD domain containing 2A				ENSP00000275884		19-Feb	8.27E-06							6.85E-05	rs776126618,COSM3411664,COSM3411665	19-Feb	.		ENST00000275884	Transcript						ENSG00000146966	g.chr7:140301257G>A	22212			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=DEN2A_HUMAN&rb=201&re=400&var=S314F	NA	getma.org/?cm=var&var=hg19,7,140301257,G,A&fts=all	S314F	--	--	1																																		DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.S314F|DENND2A_uc003vvw.2_Missense_Mutation_p.S314F|DENND2A_uc003vvx.2_Missense_Mutation_p.S314F	0,1,1	1		possibly_damaging(0.498)	p.S314F	NM_015689	NP_056504		deleterious(0)	0,1,1	DEN2A_HUMAN	DENND2A	HGNC	Q9ULE3	DEN2A_HUMAN			C9JD15_HUMAN,C9JAA0_HUMAN,C9IYZ8_HUMAN,C9IY76_HUMAN		1	1086	-	Melanoma(164;0.00956)		UPI00001C1E63	314					SNV	DENND2A,missense_variant,p.Ser314Phe,ENST00000275884,;DENND2A,missense_variant,p.Ser314Phe,ENST00000492720,;DENND2A,missense_variant,p.Ser314Phe,ENST00000496613,;DENND2A,missense_variant,p.Ser314Phe,ENST00000537639,NM_015689.3;DENND2A,intron_variant,,ENST00000475837,;DENND2A,downstream_gene_variant,,ENST00000491728,;DENND2A,downstream_gene_variant,,ENST00000477488,;DENND2A,downstream_gene_variant,,ENST00000489552,;DENND2A,missense_variant,p.Ser314Phe,ENST00000461883,;	uc010lnj.2	c.941C>T	1359/3735	1	1			c.941C>T						7	SNP	c.(940-942)TCC>TTC	59	59			ovary(3)|breast(1)	4	Broad	DENN/MADD domain containing 2A			140301257		0.393	ENSG00000146966	4352	g.chr7:140301257G>A										-30.244839	KEEP	3	2	-1	102	110	3	2	-1	8.34658	102	110	0.025806	1	0	0	0	0	1	0	0	0	--	--		0	A			DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.S314F|DENND2A_uc003vvw.2_Missense_Mutation_p.S314F|DENND2A_uc003vvx.2_Missense_Mutation_p.S314F	120	GBM-12-0619-TP	p.S314F	G	GTTCACagaggaaggtggggg	NM_015689	NP_056504	140301257	Q9ULE3	DEN2A_HUMAN	0			1	1086	-	A	A	Melanoma(164;0.00956)		Missense_Mutation	314						
DENND2A	0	broad.mit.edu	GRCh37	7	140301861	140301861	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5947-01	TCGA-19-5947-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275884.6:c.337G>A	p.Gly113Arg	p.G113R	ENST00000275884		113	Gga/Aga	0			1			T	G/R	uc010lnj.2	protein_coding	YES	CCDS43659.1			337/3030									ovary(3)|breast(1)	4	c.(337-339)GGA>AGA				DENN/MADD domain containing 2A				ENSP00000275884		19-Feb									COSM2156510,COSM3411666	19-Feb	.		ENST00000275884	Transcript						ENSG00000146966	g.chr7:140301861C>T	22212			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=DEN2A_HUMAN&rb=1&re=200&var=G113R	NA	getma.org/?cm=var&var=hg19,7,140301861,C,T&fts=all	G113R	--	--	1																																		DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.G113R|DENND2A_uc003vvw.2_Missense_Mutation_p.G113R|DENND2A_uc003vvx.2_Missense_Mutation_p.G113R	1,1	1		benign(0.021)	p.G113R	NM_015689	NP_056504		tolerated(0.15)	1,1	DEN2A_HUMAN	DENND2A	HGNC	Q9ULE3	DEN2A_HUMAN			C9JD15_HUMAN,C9JAA0_HUMAN,C9IYZ8_HUMAN,C9IY76_HUMAN		1	482	-	Melanoma(164;0.00956)		UPI00001C1E63	113					SNV	DENND2A,missense_variant,p.Gly113Arg,ENST00000275884,;DENND2A,missense_variant,p.Gly113Arg,ENST00000492720,;DENND2A,missense_variant,p.Gly113Arg,ENST00000496613,;DENND2A,missense_variant,p.Gly113Arg,ENST00000537639,NM_015689.3;DENND2A,missense_variant,p.Gly113Arg,ENST00000491728,;DENND2A,intron_variant,,ENST00000475837,;DENND2A,downstream_gene_variant,,ENST00000477488,;DENND2A,downstream_gene_variant,,ENST00000489552,;DENND2A,missense_variant,p.Gly113Arg,ENST00000461883,;	uc010lnj.2	c.337G>A	755/3735	2	2			c.337G>A						7	SNP	c.(337-339)GGA>AGA	36	36			ovary(3)|breast(1)	4	Broad	DENN/MADD domain containing 2A			140301861		0.587	ENSG00000146966	4352	g.chr7:140301861C>T										183.099462	KEEP	29	42	-1	101	112	29	42	-1	196.757519	101	112	0.25498	1	0	0	0	0	1	0	0	0	--	--		0	T			DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.G113R|DENND2A_uc003vvw.2_Missense_Mutation_p.G113R|DENND2A_uc003vvx.2_Missense_Mutation_p.G113R	169	GBM-19-5947-TP	p.G113R	C	TTCACTGCTCCTTTATTCCTC	NM_015689	NP_056504	140301861	Q9ULE3	DEN2A_HUMAN	0			1	482	-	T	T	Melanoma(164;0.00956)		Missense_Mutation	113						
DENND2C	163259	broad.mit.edu	GRCh37	1	115165651	115165651	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0686-01	TCGA-06-0686-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393274.1:c.1013C>A	p.Ala338Glu	p.A338E	ENST00000393274	NM_001256404.1	338	gCa/gAa	0			1			T	A/E	uc001efd.1	protein_coding	YES	CCDS58018.1			1013/2787									skin(3)	3	c.(1012-1014)GCA>GAA			hmmpanther:PTHR15288,hmmpanther:PTHR15288:SF6	DENN/MADD domain containing 2C				ENSP00000376955		21-Jun									COSM3399558,COSM3399559	21-Jun	.		ENST00000393274	Transcript						ENSG00000175984	g.chr1:115165651G>T	24748			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=DEN2C_HUMAN&rb=1&re=491&var=A338E	NA	getma.org/?cm=var&var=hg19,1,115165651,G,T&fts=all	A338E	--	--	1																																		DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Missense_Mutation_p.A338E	1,1	1		benign(0.347)	p.A338E	NM_198459	NP_940861		tolerated(0.33)	1,1	DEN2C_HUMAN	DENND2C	HGNC	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)			6	1715	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	UPI000048AF71	338					SNV	DENND2C,missense_variant,p.Ala338Glu,ENST00000393274,NM_001256404.1;DENND2C,missense_variant,p.Ala338Glu,ENST00000393276,NM_198459.3;DENND2C,missense_variant,p.Ala338Glu,ENST00000393277,;DENND2C,non_coding_transcript_exon_variant,,ENST00000481894,;DENND2C,downstream_gene_variant,,ENST00000493549,;	uc001efd.1	c.1013C>A	1639/6163	2	2			c.1013C>A						1	SNP	c.(1012-1014)GCA>GAA	32	32			skin(3)	3	Broad	DENN/MADD domain containing 2C			115165651		0.343	ENSG00000175984	4353	g.chr1:115165651G>T										4.027076	KEEP	3	5	0.375	66	34	3	5	0.375	18.878483	66	34	0.090909	1	0	0	0	0	1	0	0	0	--	--		0	T			DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Missense_Mutation_p.A338E	64	GBM-06-0686-TP	p.A338E	G	TAGCTTCCATGCTGAAGGGGA	NM_198459	NP_940861	115165651	Q68D51	DEN2C_HUMAN	0		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1715	-	T	T	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	Missense_Mutation	338						
DENND2C	0	broad.mit.edu	GRCh37	1	115167981	115167981	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-4928-01	TCGA-76-4928-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393274.1:c.625C>G	p.Pro209Ala	p.P209A	ENST00000393274	NM_001256404.1	209	Cct/Gct	0			1			C	P/A	uc001efd.1	protein_coding	YES	CCDS58018.1			625/2787									skin(3)	3	c.(625-627)CCT>GCT			hmmpanther:PTHR15288,hmmpanther:PTHR15288:SF6	DENN/MADD domain containing 2C				ENSP00000376955		21-Apr									COSM3399560,COSM3399561	21-Apr	.		ENST00000393274	Transcript						ENSG00000175984	g.chr1:115167981G>C	24748			MODERATE		2.435	medium	getma.org/?cm=msa&ty=f&p=DEN2C_HUMAN&rb=1&re=491&var=P209A	NA	getma.org/?cm=var&var=hg19,1,115167981,G,C&fts=all	P209A	--	--	1																																		DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Missense_Mutation_p.P209A	1,1	1		probably_damaging(0.999)	p.P209A	NM_198459	NP_940861		deleterious(0)	1,1	DEN2C_HUMAN	DENND2C	HGNC	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)			4	1327	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	UPI000048AF71	209					SNV	DENND2C,missense_variant,p.Pro209Ala,ENST00000393274,NM_001256404.1;DENND2C,missense_variant,p.Pro209Ala,ENST00000393276,NM_198459.3;DENND2C,missense_variant,p.Pro209Ala,ENST00000393277,;DENND2C,upstream_gene_variant,,ENST00000481894,;DENND2C,downstream_gene_variant,,ENST00000493549,;	uc001efd.1	c.625C>G	1251/6163	3	3			c.625C>G						1	SNP	c.(625-627)CCT>GCT	12	12			skin(3)	3	Broad	DENN/MADD domain containing 2C			115167981		0.378	ENSG00000175984	4353	g.chr1:115167981G>C										7.27328	KEEP	12	12	-1	140	162	12	12	-1	57.318296	140	162	0.074349	1	0	0	0	0	1	0	0	0	--	--		0	C			DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Missense_Mutation_p.P209A	268	GBM-76-4928-TP	p.P209A	G	TTTGGCAAAGGATTTATGGAA	NM_198459	NP_940861	115167981	Q68D51	DEN2C_HUMAN	0		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1327	-	C	C	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	Missense_Mutation	209						
DENND2D	79961	broad.mit.edu	GRCh37	1	111730833	111730833	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357640.4:c.1259G>A	p.Arg420Gln	p.R420Q	ENST00000357640	NM_024901.4	420	cGa/cAa	0			1			T	R/Q	uc001eak.1	protein_coding	YES	CCDS831.1			1259/1416									ovary(1)	1	c.(1258-1260)CGA>CAA			Pfam_domain:PF03455,PROSITE_profiles:PS50947,hmmpanther:PTHR15288,hmmpanther:PTHR15288:SF2,SMART_domains:SM00801	DENN/MADD domain containing 2D				ENSP00000350266		12-Nov	3.29E-05	0.000289		0.000116					rs201272881,COSM252472	12-Nov	.		ENST00000357640	Transcript						ENSG00000162777	g.chr1:111730833C>T	26192			MODERATE		1.395	low	getma.org/?cm=msa&ty=f&p=DEN2D_HUMAN&rb=371&re=438&var=R420Q	NA	getma.org/?cm=var&var=hg19,1,111730833,C,T&fts=all	R420Q	--	--	1																																		DENND2D_uc001eal.1_Missense_Mutation_p.R417Q	0,1	1		possibly_damaging(0.509)	p.R420Q	NM_024901	NP_079177		tolerated(0.15)	0,1	DEN2D_HUMAN	DENND2D	HGNC	Q9H6A0	DEN2D_HUMAN		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)	Q8TCN6_HUMAN		11	1459	-		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)	UPI000006E1E1	420			dDENN.		SNV	DENND2D,missense_variant,p.Arg420Gln,ENST00000357640,NM_024901.4;DENND2D,missense_variant,p.Arg417Gln,ENST00000369752,NM_001271833.1;CEPT1,downstream_gene_variant,,ENST00000545121,NM_001007794.1;CEPT1,downstream_gene_variant,,ENST00000357172,NM_006090.3;RP5-1180E21.5,upstream_gene_variant,,ENST00000610049,;DENND2D,non_coding_transcript_exon_variant,,ENST00000468692,;CEPT1,downstream_gene_variant,,ENST00000467362,;CEPT1,downstream_gene_variant,,ENST00000478042,;CEPT1,downstream_gene_variant,,ENST00000498239,;CEPT1,downstream_gene_variant,,ENST00000473474,;CEPT1,downstream_gene_variant,,ENST00000483427,;	uc001eak.1	c.1259G>A	1489/2077	1	1			c.1259G>A						1	SNP	c.(1258-1260)CGA>CAA	9	9			ovary(1)	1	Broad	DENN/MADD domain containing 2D			111730833		0.498	ENSG00000162777	4354	g.chr1:111730833C>T										-7.992313	KEEP	1	4	-1	41	53	1	4	-1	9.887027	41	53	0.057471	1	0	0	0	0	1	0	0	0	--	--		0	T			DENND2D_uc001eal.1_Missense_Mutation_p.R417Q	102	GBM-06-5858-TP	p.R420Q	C	CTTCACAAATCGGCGGTTGGT	NM_024901	NP_079177	111730833	Q9H6A0	DEN2D_HUMAN	0		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)	11	1459	-	T	T		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)	Missense_Mutation	420			dDENN.			
DENND3	22898	broad.mit.edu	GRCh37	8	142186755	142186755	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6390-01	TCGA-06-6390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262585.2:c.2361G>A	p.Ala787=	p.A787=	ENST00000262585	NM_014957.2	787	gcG/gcA	0		A:0.0008	1	A:0		A	A	uc003yvy.2	protein_coding	YES	CCDS34947.1			2361/3597									ovary(1)	1	c.(2359-2361)GCG>GCA			hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF3	DENN/MADD domain containing 3		A:0		ENSP00000262585	A:0	15/23	2.47E-05	0.000288							rs570647400,COSM1330274	15/23	.		ENST00000262585	Transcript		A:0.0002				ENSG00000105339	g.chr8:142186755G>A	29134			LOW								--	--	1																																		DENND3_uc010mep.2_Silent_p.A748A	0,1	1			p.A787A	NM_014957	NP_055772	A:0		0,1	DEND3_HUMAN	DENND3	HGNC	A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		B3KRG7_HUMAN		15	2639	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		UPI00003CEFBA	787					SNV	DENND3,synonymous_variant,p.=,ENST00000519811,;DENND3,synonymous_variant,p.=,ENST00000262585,NM_014957.2;DENND3,synonymous_variant,p.=,ENST00000424248,;DENND3,synonymous_variant,p.=,ENST00000518668,;DENND3,upstream_gene_variant,,ENST00000517985,;DENND3,upstream_gene_variant,,ENST00000518806,;DENND3,downstream_gene_variant,,ENST00000523066,;DENND3,downstream_gene_variant,,ENST00000520482,;	uc003yvy.2	c.2361G>A	2639/5438	2	2			c.2361G>A						8	SNP	c.(2359-2361)GCG>GCA	34	34			ovary(1)	1	Broad	DENN/MADD domain containing 3			142186755		0.483	ENSG00000105339	4355	g.chr8:142186755G>A										-2.442249	KEEP	2	5	-1	42	50	2	5	-1	15.293055	42	50	0.073684	1	0	0	0	0	0	0	1	0	--	--		0	A			DENND3_uc010mep.2_Silent_p.A748A	106	GBM-06-6390-TP	p.A787A	G	TCAGAGTGGCGTCCAAGAAAG	NM_014957	NP_055772	142186755	A2RUS2	DEND3_HUMAN	0	BRCA - Breast invasive adenocarcinoma(115;0.105)		15	2639	+	A	A	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		Silent	787						
DENND3	22898		GRCh37	8	142151330	142151330	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000262585.2:c.290C>T	p.Thr97Met	p.T97M	ENST00000262585	NM_014957.2	97	aCg/aTg	0																																																																																																																																																																																																																																												
DENND4C	55667	broad.mit.edu	GRCh37	9	19346294	19346294	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0152-01	TCGA-06-0152-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000602925.1:c.3380C>T	p.Pro1127Leu	p.P1127L	ENST00000602925	NM_017925.5	1127	cCg/cTg	0			1			T	P/L	uc003znq.2	protein_coding	YES	CCDS6491.3			3380/5730									ovary(1)|skin(1)	2	c.(2671-2673)CCG>CTG			hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF17	DENN/MADD domain containing 4C				ENSP00000473565		22/32	4.94E-05					5.99E-05		0.000121	rs779726064,COSM2149875,COSM3413549	22/32	.		ENST00000602925	Transcript				integral to membrane		ENSG00000137145	g.chr9:19346294C>T	26079			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=DEN4C_HUMAN&rb=661&re=947&var=P891L	NA	getma.org/?cm=var&var=hg19,9,19346294,C,T&fts=all	P891L	--	--	1																																		DENND4C_uc011lnc.1_Missense_Mutation_p.P221L|DENND4C_uc011lnd.1_Missense_Mutation_p.P179L|DENND4C_uc003znr.2_Missense_Mutation_p.P179L|DENND4C_uc003zns.2_Missense_Mutation_p.P73L|DENND4C_uc003znt.2_Missense_Mutation_p.P73L	0,1,1	1		benign(0.002)	p.P891L	NM_017925	NP_060395		deleterious(0.03)	0,1,1		DENND4C	HGNC	Q5VZ89	DEN4C_HUMAN			R4GNB2_HUMAN		18	2705	+			UPI0000EE421F	891					SNV	DENND4C,missense_variant,p.Pro891Leu,ENST00000380432,;DENND4C,missense_variant,p.Pro1127Leu,ENST00000602925,NM_017925.5;DENND4C,missense_variant,p.Pro1176Leu,ENST00000434457,;DENND4C,missense_variant,p.Pro163Leu,ENST00000380427,;DENND4C,upstream_gene_variant,,ENST00000361024,;DENND4C,upstream_gene_variant,,ENST00000380424,;DENND4C,3_prime_UTR_variant,,ENST00000494124,;DENND4C,non_coding_transcript_exon_variant,,ENST00000380437,;	uc003znq.2	c.2672C>T	3796/6831	1	1			c.2672C>T						9	SNP	c.(2671-2673)CCG>CTG	16	16			ovary(1)|skin(1)	2	Broad	DENN/MADD domain containing 4C			19346294		0.443	ENSG00000137145	4358	g.chr9:19346294C>T		integral to membrane								228.270479	KEEP	42	41	-1	76	58	42	41	-1	231.270917	76	58	0.370732	1	0	0	0	0	1	0	0	0	--	--		0	T			DENND4C_uc011lnc.1_Missense_Mutation_p.P221L|DENND4C_uc011lnd.1_Missense_Mutation_p.P179L|DENND4C_uc003znr.2_Missense_Mutation_p.P179L|DENND4C_uc003zns.2_Missense_Mutation_p.P73L|DENND4C_uc003znt.2_Missense_Mutation_p.P73L	25	GBM-06-0152-TP	p.P891L	C	AGATCATCTCCGGTGCCAGAG	NM_017925	NP_060395	19346294	Q5VZ89	DEN4C_HUMAN	0			18	2705	+	T	T			Missense_Mutation	891						
DENND4C	55667	broad.mit.edu	GRCh37	9	19360386	19360386	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0743-01	TCGA-06-0743-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000602925.1:c.5158A>G	p.Ile1720Val	p.I1720V	ENST00000602925	NM_017925.5	1720	Atc/Gtc	0			1			G	I/V	uc003znq.2	protein_coding	YES	CCDS6491.3			5158/5730									ovary(1)|skin(1)	2	c.(4450-4452)ATC>GTC			hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF17	DENN/MADD domain containing 4C				ENSP00000473565		28/32	2.47E-05					4.50E-05			rs769615203,COSM3413550,COSM3413551	28/32	.		ENST00000602925	Transcript				integral to membrane		ENSG00000137145	g.chr9:19360386A>G	26079			MODERATE		2.295	medium	getma.org/?cm=msa&ty=f&p=DEN4C_HUMAN&rb=1286&re=1671&var=I1484V	NA	getma.org/?cm=var&var=hg19,9,19360386,A,G&fts=all	I1484V	--	--	1																																		DENND4C_uc011lnc.1_Missense_Mutation_p.I814V|DENND4C_uc011lnd.1_Missense_Mutation_p.I772V|DENND4C_uc003znr.2_Missense_Mutation_p.I772V|DENND4C_uc003zns.2_Missense_Mutation_p.I666V	0,1,1	1		benign(0.163)	p.I1484V	NM_017925	NP_060395		deleterious(0.02)	0,1,1		DENND4C	HGNC	Q5VZ89	DEN4C_HUMAN			R4GNB2_HUMAN		24	4483	+			UPI0000EE421F	1484					SNV	DENND4C,missense_variant,p.Ile1484Val,ENST00000380432,;DENND4C,missense_variant,p.Ile1720Val,ENST00000602925,NM_017925.5;DENND4C,missense_variant,p.Ile1769Val,ENST00000434457,;DENND4C,missense_variant,p.Ile756Val,ENST00000380427,;DENND4C,missense_variant,p.Ile507Val,ENST00000361024,;DENND4C,downstream_gene_variant,,ENST00000380424,;DENND4C,3_prime_UTR_variant,,ENST00000494124,;DENND4C,non_coding_transcript_exon_variant,,ENST00000380437,;	uc003znq.2	c.4450A>G	5574/6831	3	3			c.4450A>G						9	SNP	c.(4450-4452)ATC>GTC	7	7			ovary(1)|skin(1)	2	Broad	DENN/MADD domain containing 4C			19360386		0.388	ENSG00000137145	4358	g.chr9:19360386A>G		integral to membrane								-5.580189	KEEP	7	1	-1	45	49	7	1	-1	13.653098	45	49	0.054348	1	0	0	0	0	1	0	0	0	--	--		0	G			DENND4C_uc011lnc.1_Missense_Mutation_p.I814V|DENND4C_uc011lnd.1_Missense_Mutation_p.I772V|DENND4C_uc003znr.2_Missense_Mutation_p.I772V|DENND4C_uc003zns.2_Missense_Mutation_p.I666V	65	GBM-06-0743-TP	p.I1484V	A	TCAACATCCAATCATTTTCTG	NM_017925	NP_060395	19360386	Q5VZ89	DEN4C_HUMAN	0			24	4483	+	G	G			Missense_Mutation	1484						
DENND4C	0	broad.mit.edu	GRCh37	9	19305352	19305352	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000602925.1:c.1314G>A	p.Met438Ile	p.M438I	ENST00000602925	NM_017925.5	438	atG/atA	0			1			A	M/I	uc003znq.2	protein_coding	YES	CCDS6491.3			1314/5730									ovary(1)|skin(1)	2	c.(604-606)ATG>ATA			PROSITE_profiles:PS50211,hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF17,Pfam_domain:PF02141,SMART_domains:SM00799	DENN/MADD domain containing 4C				ENSP00000473565		Oct-32									COSM2157483	Oct-32	.		ENST00000602925	Transcript				integral to membrane		ENSG00000137145	g.chr9:19305352G>A	26079			MODERATE		0.89	low	getma.org/?cm=msa&ty=f&p=DEN4C_HUMAN&rb=72&re=256&var=M202I	getma.org/pdb.php?prot=DEN4C_HUMAN&from=72&to=256&var=M202I	getma.org/?cm=var&var=hg19,9,19305352,G,A&fts=all	M202I	--	--	1																																		DENND4C_uc011lnc.1_5'UTR	1	1		possibly_damaging(0.885)	p.M202I	NM_017925	NP_060395		deleterious(0)	1		DENND4C	HGNC	Q5VZ89	DEN4C_HUMAN			R4GNB2_HUMAN		6	639	+			UPI0000EE421F	202			DENN.|Helical; (Potential).		SNV	DENND4C,missense_variant,p.Met202Ile,ENST00000380432,;DENND4C,missense_variant,p.Met438Ile,ENST00000602925,NM_017925.5;DENND4C,missense_variant,p.Met438Ile,ENST00000434457,;DENND4C,missense_variant,p.Met211Ile,ENST00000494124,;DENND4C,splice_region_variant,,ENST00000380437,;	uc003znq.2	c.606G>A	1730/6831	2	2			c.606G>A						9	SNP	c.(604-606)ATG>ATA	22	22			ovary(1)|skin(1)	2	Broad	DENN/MADD domain containing 4C			19305352		0.343	ENSG00000137145	4358	g.chr9:19305352G>A		integral to membrane								478.459605	KEEP	94	68	-1	13	20	94	68	-1	497.185084	13	20	0.832402	1	0	0	0	0	1	0	0	0	--	--		0	A			DENND4C_uc011lnc.1_5'UTR	265	GBM-76-4925-TP	p.M202I	G	TTCCCCAGATGATCTTTCCAT	NM_017925	NP_060395	19305352	Q5VZ89	DEN4C_HUMAN	0			6	639	+	A	A			Missense_Mutation	202			DENN.|Helical; (Potential).			
DENND5A	0	broad.mit.edu	GRCh37	11	9171674	9171674	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-3915-01	TCGA-41-3915-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328194.3:c.2689C>T	p.Leu897Phe	p.L897F	ENST00000328194	NM_015213.3	897	Ctt/Ttt	0			1			A	L/F	uc001mhl.2	protein_coding	YES	CCDS31423.1			2689/3864									liver(1)	1	c.(2689-2691)CTT>TTT			Superfamily_domains:0052343,Pfam_domain:PF02759,PROSITE_profiles:PS50826,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF45,SMART_domains:SM00593	RAB6 interacting protein 1				ENSP00000328524		15/23									COSM3398191	15/23	.		ENST00000328194	Transcript						ENSG00000184014	g.chr11:9171674G>A	19344			MODERATE		2.265	medium	getma.org/?cm=msa&ty=f&p=DEN5A_HUMAN&rb=795&re=947&var=L897F	getma.org/pdb.php?prot=DEN5A_HUMAN&from=795&to=947&var=L897F	getma.org/?cm=var&var=hg19,11,9171674,G,A&fts=all	L897F	--	--	1																																		DENND5A_uc001mhk.2_Missense_Mutation_p.L240F|DENND5A_uc010rbw.1_Missense_Mutation_p.L897F|DENND5A_uc010rbx.1_RNA	1	1		probably_damaging(0.98)	p.L897F	NM_015213	NP_056028		deleterious(0)	1	DEN5A_HUMAN	DENND5A	HGNC	Q6IQ26	DEN5A_HUMAN			B3KWN5_HUMAN		15	2944	-			UPI00001C1F29	897			RUN 1.		SNV	DENND5A,missense_variant,p.Leu897Phe,ENST00000328194,NM_015213.3,NM_001243254.1;DENND5A,missense_variant,p.Leu897Phe,ENST00000530044,;DENND5A,missense_variant,p.Leu240Phe,ENST00000527700,;DENND5A,missense_variant,p.Leu68Phe,ENST00000524446,;DENND5A,upstream_gene_variant,,ENST00000525784,;DENND5A,missense_variant,p.Leu17Phe,ENST00000531747,;DENND5A,3_prime_UTR_variant,,ENST00000526707,;DENND5A,non_coding_transcript_exon_variant,,ENST00000531580,;DENND5A,upstream_gene_variant,,ENST00000529977,;	uc001mhl.2	c.2689C>T	3010/5031	2	2			c.2689C>T						11	SNP	c.(2689-2691)CTT>TTT	29	29			liver(1)	1	Broad	RAB6 interacting protein 1			9171674		0.517	ENSG00000184014	4359	g.chr11:9171674G>A										21.520137	KEEP	8	6	-1	43	42	8	6	-1	32.93403	43	42	0.141304	1	0	0	0	0	1	0	0	0	--	--		0	A			DENND5A_uc001mhk.2_Missense_Mutation_p.L240F|DENND5A_uc010rbw.1_Missense_Mutation_p.L897F|DENND5A_uc010rbx.1_RNA	256	GBM-41-3915-TP	p.L897F	G	TGTCTGGAAAGTAACTTTTTT	NM_015213	NP_056028	9171674	Q6IQ26	DEN5A_HUMAN	0			15	2944	-	A	A			Missense_Mutation	897			RUN 1.			
DENND5B	0	broad.mit.edu	GRCh37	12	31545306	31545306	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389082.5:c.3361C>T	p.Leu1121=	p.L1121=	ENST00000389082	NM_144973.3	1121	Ctg/Ttg	0			1			A	L	uc001rki.1	protein_coding	YES	CCDS44857.1			3361/3825									ovary(1)|central_nervous_system(1)	2	c.(3361-3363)CTG>TTG			Superfamily_domains:0052343,hmmpanther:PTHR10877:SF45,hmmpanther:PTHR10877,PROSITE_profiles:PS50826	DENN/MADD domain containing 5B				ENSP00000373734		19/21									COSM3398665,COSM3398666	19/21	.		ENST00000389082	Transcript				integral to membrane		ENSG00000170456	g.chr12:31545306G>A	28338			LOW								--	--	1																																		DENND5B_uc001rkh.1_Silent_p.L1156L|DENND5B_uc009zjq.1_Intron	1,1	1			p.L1121L	NM_144973	NP_659410			1,1	DEN5B_HUMAN	DENND5B	HGNC	Q6ZUT9	DEN5B_HUMAN					19	3547	-			UPI0000E23226	1121			RUN 2.		SNV	DENND5B,synonymous_variant,p.=,ENST00000389082,NM_144973.3;DENND5B,synonymous_variant,p.=,ENST00000306833,;DENND5B,synonymous_variant,p.=,ENST00000536562,;RNU6-618P,upstream_gene_variant,,ENST00000363518,;	uc001rki.1	c.3361C>T	3626/9470	1	1			c.3361C>T						12	SNP	c.(3361-3363)CTG>TTG	54	54			ovary(1)|central_nervous_system(1)	2	Broad	DENN/MADD domain containing 5B			31545306		0.468	ENSG00000170456	4360	g.chr12:31545306G>A		integral to membrane								-10.741873	KEEP	2	2	-1	41	42	2	2	-1	6.365105	41	42	0.04	1	0	0	0	0	0	0	1	0	--	--		0	A			DENND5B_uc001rkh.1_Silent_p.L1156L|DENND5B_uc009zjq.1_Intron	270	GBM-76-4931-TP	p.L1121L	G	TCTCCACACAGCAACACGGTG	NM_144973	NP_659410	31545306	Q6ZUT9	DEN5B_HUMAN	0			19	3547	-	A	A			Silent	1121			RUN 2.			
DENND6A	201627	broad.mit.edu	GRCh37	3	57627463	57627463	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0195-01	TCGA-06-0195-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311128.5:c.1049T>C	p.Ile350Thr	p.I350T	ENST00000311128	NM_152678.2	350	aTa/aCa	0			1			G	I/T	uc003dja.2	protein_coding	YES	CCDS33773.1			1049/1827									pancreas(1)	1	c.(1048-1050)ATA>ACA			Pfam_domain:PF08616,hmmpanther:PTHR13677,hmmpanther:PTHR13677:SF1	hypothetical protein LOC201627				ENSP00000311401		20-Dec									COSM3408829	20-Dec	.		ENST00000311128	Transcript						ENSG00000174839	g.chr3:57627463A>G	26635			MODERATE		2.69	medium	getma.org/?cm=msa&ty=f&p=F116A_HUMAN&rb=268&re=378&var=I350T	NA	getma.org/?cm=var&var=hg19,3,57627463,A,G&fts=all	I350T	--	--	1																																			1	1		possibly_damaging(0.627)	p.I350T	NM_152678	NP_689891		deleterious(0.02)	1	DEN6A_HUMAN	DENND6A	HGNC	Q8IWF6	F116A_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)			12	1120	-			UPI00000744F6	350					SNV	DENND6A,missense_variant,p.Ile350Thr,ENST00000311128,NM_152678.2;DENND6A,missense_variant,p.Ile119Thr,ENST00000477344,;RP11-755B10.2,intron_variant,,ENST00000470427,;	uc003dja.2	c.1049T>C	1120/4655	3	3			c.1049T>C						3	SNP	c.(1048-1050)ATA>ACA	13	13			pancreas(1)	1	Broad	hypothetical protein LOC201627			57627463		0.313	ENSG00000174839	5320	g.chr3:57627463A>G										161.101346	KEEP	26	24	-1	26	24	26	24	-1	161.122633	26	24	0.483516	1	0	0	0	0	1	0	0	0	--	--		0	G				45	GBM-06-0195-TP	p.I350T	A	TACTCCTAATATAACTGAGGG	NM_152678	NP_689891	57627463	Q8IWF6	F116A_HUMAN	0		BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)	12	1120	-	G	G			Missense_Mutation	350						
DEPDC1	0	broad.mit.edu	GRCh37	1	68948414	68948414	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-32-4210-01	TCGA-32-4210-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000456315.2:c.1077A>G	p.Ser359=	p.S359=	ENST00000456315	NM_001114120.1	359	tcA/tcG	0			1			C	S	uc001dem.3	protein_coding	YES	CCDS44159.1			1077/2436										0	c.(1075-1077)TCA>TCG			hmmpanther:PTHR16206,hmmpanther:PTHR16206:SF12	DEP domain containing 1 isoform a				ENSP00000412292		12-Aug									COSM3400985	12-Aug	.		ENST00000456315	Transcript			intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	ENSG00000024526	g.chr1:68948414T>C	22949			LOW								--	--	1																																		DEPDC1_uc001dej.3_5'Flank|DEPDC1_uc001dek.3_RNA|DEPDC1_uc001del.3_Intron	1	1			p.S359S	NM_001114120	NP_001107592			1	DEP1A_HUMAN	DEPDC1	HGNC	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	E9PL61_HUMAN		8	1194	-			UPI0000204557	359					SNV	DEPDC1,synonymous_variant,p.=,ENST00000456315,NM_001114120.1;DEPDC1,intron_variant,,ENST00000370966,NM_017779.4;DEPDC1,downstream_gene_variant,,ENST00000525124,;RP4-694A7.2,intron_variant,,ENST00000425820,;DEPDC1,synonymous_variant,p.=,ENST00000489862,;DEPDC1,upstream_gene_variant,,ENST00000488146,;	uc001dem.3	c.1077A>G	1192/5331	4	4			c.1077A>G						1	SNP	c.(1075-1077)TCA>TCG	46	46				0	Broad	DEP domain containing 1 isoform a			68948414		0.343	ENSG00000024526	4362	g.chr1:68948414T>C	intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding							289.912224	KEEP	42	46	-1	46	49	42	46	-1	289.923952	46	49	0.491124	1	0	0	0	0	0	0	1	0	--	--		0	C			DEPDC1_uc001dej.3_5'Flank|DEPDC1_uc001dek.3_RNA|DEPDC1_uc001del.3_Intron	245	GBM-32-4210-TP	p.S359S	T	CAGTAGAATCTGATTCTTCTT	NM_001114120	NP_001107592	68948414	Q5TB30	DEP1A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	8	1194	-	C	C			Silent	359						
DEPDC5	9681	broad.mit.edu	GRCh37	22	32198714	32198715	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C			TCGA-06-5413-01	TCGA-06-5413-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382112.3:c.972dup	p.Asn325GlnfsTer3	p.N325Qfs*3	ENST00000382112	NM_001136029.2	324	cgc/cgCc	0			1			C	R/RX	uc003als.2	protein_coding					971-972/4659									ovary(4)|central_nervous_system(3)|pancreas(1)	8	c.(970-972)CGCfs			Pfam_domain:PF12257,hmmpanther:PTHR13179	DEP domain containing 5 isoform 1				ENSP00000383105		15/42										15/42	.		ENST00000400246	Transcript	1		intracellular signal transduction			ENSG00000100150	g.chr22:32198714_32198715insC	18423	1		HIGH								--	--	1																																		DEPDC5_uc011als.1_Frame_Shift_Ins_p.R324fs|DEPDC5_uc011alu.1_Frame_Shift_Ins_p.R324fs|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Frame_Shift_Ins_p.R324fs|DEPDC5_uc003alr.1_Frame_Shift_Ins_p.R324fs|DEPDC5_uc011alt.1_Frame_Shift_Ins_p.R296fs					p.R324fs	NM_014662	NP_055477				DEPD5_HUMAN	DEPDC5	HGNC	O75140	DEPD5_HUMAN			C9JGS4_HUMAN		15	1113_1114	+			UPI00004708D4	324					insertion	DEPDC5,frameshift_variant,p.Asn325GlnfsTer3,ENST00000400246,;DEPDC5,frameshift_variant,p.Asn325GlnfsTer3,ENST00000266091,;DEPDC5,frameshift_variant,p.Asn325GlnfsTer3,ENST00000400249,NM_014662.3;DEPDC5,frameshift_variant,p.Asn325GlnfsTer3,ENST00000382112,NM_001136029.2,NM_001242896.1;DEPDC5,frameshift_variant,p.Asn325GlnfsTer3,ENST00000400248,;DEPDC5,frameshift_variant,p.Asn325GlnfsTer3,ENST00000382111,;DEPDC5,frameshift_variant,p.Asn325GlnfsTer3,ENST00000382105,;DEPDC5,frameshift_variant,p.Asn325GlnfsTer3,ENST00000535622,NM_001242897.1;DEPDC5,frameshift_variant,p.Asn325GlnfsTer3,ENST00000400242,NM_001007188.2;DEPDC5,frameshift_variant,p.Asn297GlnfsTer3,ENST00000536766,;DEPDC5,non_coding_transcript_exon_variant,,ENST00000469974,;DEPDC5,non_coding_transcript_exon_variant,,ENST00000473802,;	uc003als.2	c.971_972insC	1113-1114/5410	5	5			c.971_972insC						22	INS	c.(970-972)CGCfs	32	32			ovary(4)|central_nervous_system(3)|pancreas(1)	8	Broad	DEP domain containing 5 isoform 1			32198715		0.446	ENSG00000100150	4365	g.chr22:32198714_32198715insC	intracellular signal transduction																						0.5	1	0	0	1	1	0	0	0	0	--	--		0	C			DEPDC5_uc011als.1_Frame_Shift_Ins_p.R324fs|DEPDC5_uc011alu.1_Frame_Shift_Ins_p.R324fs|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Frame_Shift_Ins_p.R324fs|DEPDC5_uc003alr.1_Frame_Shift_Ins_p.R324fs|DEPDC5_uc011alt.1_Frame_Shift_Ins_p.R296fs	96	GBM-06-5413-TP	p.R324fs	-	TACATCAACCGCAACTTTGACC	NM_014662	NP_055477	32198714	O75140	DEPD5_HUMAN	0			15	1113_1114	+	C	C			Frame_Shift_Ins	324						
DEPDC5	0	broad.mit.edu	GRCh37	22	32239728	32239728	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-15-0742-01	TCGA-15-0742-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400246.1:c.2731G>T	p.Glu911Ter	p.E911*	ENST00000400246		911	Gaa/Taa	0			1			T	E/*	uc003als.2	protein_coding					2731/4659									ovary(4)|central_nervous_system(3)|pancreas(1)	8	c.(2704-2706)GAA>TAA			hmmpanther:PTHR13179	DEP domain containing 5 isoform 1				ENSP00000383105		29/42									COSM3405618,COSM3405620,COSM3405619	29/42	.		ENST00000400246	Transcript	1		intracellular signal transduction			ENSG00000100150	g.chr22:32239728G>T	18423			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,22,32239728,G,T&fts=all	E902*	--	--	1																																		DEPDC5_uc011als.1_Nonsense_Mutation_p.E833*|DEPDC5_uc011alu.1_Nonsense_Mutation_p.E911*|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Nonsense_Mutation_p.E902*|DEPDC5_uc003alu.2_Nonsense_Mutation_p.E351*|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Nonsense_Mutation_p.E232*|DEPDC5_uc003alw.2_Nonsense_Mutation_p.E200*|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_5'Flank	1,1,1				p.E902*	NM_014662	NP_055477			1,1,1	DEPD5_HUMAN	DEPDC5	HGNC	O75140	DEPD5_HUMAN			C9JGS4_HUMAN		29	2846	+			UPI00004708D4	902					SNV	DEPDC5,stop_gained,p.Glu911Ter,ENST00000400246,;DEPDC5,stop_gained,p.Glu911Ter,ENST00000266091,;DEPDC5,stop_gained,p.Glu902Ter,ENST00000400249,NM_014662.3;DEPDC5,stop_gained,p.Glu902Ter,ENST00000382112,NM_001136029.2,NM_001242896.1;DEPDC5,stop_gained,p.Glu902Ter,ENST00000400248,;DEPDC5,stop_gained,p.Glu911Ter,ENST00000382111,;DEPDC5,stop_gained,p.Glu833Ter,ENST00000382105,;DEPDC5,stop_gained,p.Glu833Ter,ENST00000535622,NM_001242897.1;DEPDC5,stop_gained,p.Glu309Ter,ENST00000433147,;DEPDC5,upstream_gene_variant,,ENST00000494060,;DEPDC5,stop_gained,p.Glu263Ter,ENST00000448753,;DEPDC5,downstream_gene_variant,,ENST00000490731,;DEPDC5,downstream_gene_variant,,ENST00000471914,;	uc003als.2	c.2704G>T	2873/5410	5	1			c.2704G>T						22	SNP	c.(2704-2706)GAA>TAA	7	7			ovary(4)|central_nervous_system(3)|pancreas(1)	8	Broad	DEP domain containing 5 isoform 1			32239728		0.498	ENSG00000100150	4365	g.chr22:32239728G>T	intracellular signal transduction									-5.024355	KEEP	2	4	0.333333333	54	41	2	4	0.333333333	11.689365	54	41	0.068966	1	0	0	0	0	0	1	0	0	--	--		0	T			DEPDC5_uc011als.1_Nonsense_Mutation_p.E833*|DEPDC5_uc011alu.1_Nonsense_Mutation_p.E911*|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Nonsense_Mutation_p.E902*|DEPDC5_uc003alu.2_Nonsense_Mutation_p.E351*|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Nonsense_Mutation_p.E232*|DEPDC5_uc003alw.2_Nonsense_Mutation_p.E200*|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_5'Flank	153	GBM-15-0742-TP	p.E902*	G	ATTCTCCCACGAACGGCTGGA	NM_014662	NP_055477	32239728	O75140	DEPD5_HUMAN	0			29	2846	+	T	T			Nonsense_Mutation	902						
DEPDC5	0	broad.mit.edu	GRCh37	22	32239092	32239092	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-28-5219-01	TCGA-28-5219-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400246.1:c.2527C>T	p.Arg843Ter	p.R843*	ENST00000400246		843	Cga/Tga	0			1			T	R/*	uc003als.2	protein_coding					2527/4659									ovary(4)|central_nervous_system(3)|pancreas(1)	8	c.(2500-2502)CGA>TGA			hmmpanther:PTHR13179	DEP domain containing 5 isoform 1				ENSP00000383105		28/42									COSM3405615,COSM3405617,COSM3405616	28/42	.		ENST00000400246	Transcript	1		intracellular signal transduction			ENSG00000100150	g.chr22:32239092C>T	18423			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,22,32239092,C,T&fts=all	R834*	--	--	1																																		DEPDC5_uc011als.1_Nonsense_Mutation_p.R765*|DEPDC5_uc011alu.1_Nonsense_Mutation_p.R843*|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Nonsense_Mutation_p.R834*|DEPDC5_uc003alu.2_Nonsense_Mutation_p.R283*|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Nonsense_Mutation_p.R164*|DEPDC5_uc003alw.2_Nonsense_Mutation_p.R132*|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_5'Flank	1,1,1				p.R834*	NM_014662	NP_055477			1,1,1	DEPD5_HUMAN	DEPDC5	HGNC	O75140	DEPD5_HUMAN			C9JGS4_HUMAN		28	2642	+			UPI00004708D4	834					SNV	DEPDC5,stop_gained,p.Arg843Ter,ENST00000400246,;DEPDC5,stop_gained,p.Arg843Ter,ENST00000266091,;DEPDC5,stop_gained,p.Arg834Ter,ENST00000400249,NM_014662.3;DEPDC5,stop_gained,p.Arg834Ter,ENST00000382112,NM_001136029.2,NM_001242896.1;DEPDC5,stop_gained,p.Arg834Ter,ENST00000400248,;DEPDC5,stop_gained,p.Arg843Ter,ENST00000382111,;DEPDC5,stop_gained,p.Arg765Ter,ENST00000382105,;DEPDC5,stop_gained,p.Arg765Ter,ENST00000535622,NM_001242897.1;DEPDC5,stop_gained,p.Arg241Ter,ENST00000433147,;DEPDC5,upstream_gene_variant,,ENST00000494060,;DEPDC5,downstream_gene_variant,,ENST00000462414,;DEPDC5,stop_gained,p.Arg195Ter,ENST00000448753,;DEPDC5,non_coding_transcript_exon_variant,,ENST00000490731,;DEPDC5,non_coding_transcript_exon_variant,,ENST00000471914,;	uc003als.2	c.2500C>T	2669/5410	5	2			c.2500C>T						22	SNP	c.(2500-2502)CGA>TGA	41	41			ovary(4)|central_nervous_system(3)|pancreas(1)	8	Broad	DEP domain containing 5 isoform 1			32239092		0.433	ENSG00000100150	4365	g.chr22:32239092C>T	intracellular signal transduction									0.370938	KEEP	2	2	-1	32	21	2	2	-1	10.418617	32	21	0.074074	1	0	0	0	0	0	1	0	0	--	--		0	T			DEPDC5_uc011als.1_Nonsense_Mutation_p.R765*|DEPDC5_uc011alu.1_Nonsense_Mutation_p.R843*|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Nonsense_Mutation_p.R834*|DEPDC5_uc003alu.2_Nonsense_Mutation_p.R283*|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Nonsense_Mutation_p.R164*|DEPDC5_uc003alw.2_Nonsense_Mutation_p.R132*|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_5'Flank	225	GBM-28-5219-TP	p.R834*	C	CCTTGTGTCCCGAAACCGCCC	NM_014662	NP_055477	32239092	O75140	DEPD5_HUMAN	0			28	2642	+	T	T			Nonsense_Mutation	834						
DEPDC5	0	broad.mit.edu	GRCh37	22	32275577	32275577	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4209-01	TCGA-32-4209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400246.1:c.3872G>A	p.Arg1291His	p.R1291H	ENST00000400246		1291	cGc/cAc	0			1			A	R/H	uc003als.2	protein_coding					3872/4659									ovary(4)|central_nervous_system(3)|pancreas(1)	8	c.(3778-3780)CGC>CAC			Gene3D:1.10.10.10,hmmpanther:PTHR13179	DEP domain containing 5 isoform 1				ENSP00000383105		38/42	8.26E-06			0.000116					rs759266712,COSM3405621,COSM3405623,COSM3405622	38/42	.		ENST00000400246	Transcript	1		intracellular signal transduction			ENSG00000100150	g.chr22:32275577G>A	18423			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=DEPD5_HUMAN&rb=1230&re=1429&var=R1260H	NA	getma.org/?cm=var&var=hg19,22,32275577,G,A&fts=all	R1260H	--	--	1																																		DEPDC5_uc011als.1_Missense_Mutation_p.R1191H|DEPDC5_uc011alu.1_Missense_Mutation_p.R1291H|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.R1282H|DEPDC5_uc003alu.2_Missense_Mutation_p.R709H|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Missense_Mutation_p.R558H|DEPDC5_uc011alx.1_Missense_Mutation_p.R108H|DEPDC5_uc010gwk.2_Missense_Mutation_p.R286H|DEPDC5_uc011aly.1_Missense_Mutation_p.R108H	0,1,1,1			probably_damaging(0.989)	p.R1260H	NM_014662	NP_055477		tolerated(0.14)	0,1,1,1	DEPD5_HUMAN	DEPDC5	HGNC	O75140	DEPD5_HUMAN			C9JGS4_HUMAN		37	3921	+			UPI00004708D4	1260					SNV	DEPDC5,missense_variant,p.Arg1291His,ENST00000400246,;DEPDC5,missense_variant,p.Arg1269His,ENST00000266091,;DEPDC5,missense_variant,p.Arg1260His,ENST00000400249,NM_014662.3;DEPDC5,missense_variant,p.Arg1282His,ENST00000382112,NM_001136029.2,NM_001242896.1;DEPDC5,missense_variant,p.Arg1260His,ENST00000400248,;DEPDC5,missense_variant,p.Arg1291His,ENST00000382111,;DEPDC5,missense_variant,p.Ala1177Thr,ENST00000382105,;DEPDC5,missense_variant,p.Arg1191His,ENST00000535622,NM_001242897.1;DEPDC5,missense_variant,p.Arg667His,ENST00000433147,;DEPDC5,missense_variant,p.Arg108His,ENST00000539165,;DEPDC5,downstream_gene_variant,,ENST00000494060,;DEPDC5,missense_variant,p.Ala607Thr,ENST00000448753,;DEPDC5,non_coding_transcript_exon_variant,,ENST00000479261,;	uc003als.2	c.3779G>A	4014/5410	2	2			c.3779G>A						22	SNP	c.(3778-3780)CGC>CAC	29	29			ovary(4)|central_nervous_system(3)|pancreas(1)	8	Broad	DEP domain containing 5 isoform 1			32275577		0.607	ENSG00000100150	4365	g.chr22:32275577G>A	intracellular signal transduction									-37.091101	KEEP	5	2	-1	129	125	5	2	-1	8.617502	129	125	0.027027	1	0	0	0	0	1	0	0	0	--	--		0	A			DEPDC5_uc011als.1_Missense_Mutation_p.R1191H|DEPDC5_uc011alu.1_Missense_Mutation_p.R1291H|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.R1282H|DEPDC5_uc003alu.2_Missense_Mutation_p.R709H|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Missense_Mutation_p.R558H|DEPDC5_uc011alx.1_Missense_Mutation_p.R108H|DEPDC5_uc010gwk.2_Missense_Mutation_p.R286H|DEPDC5_uc011aly.1_Missense_Mutation_p.R108H	244	GBM-32-4209-TP	p.R1260H	G	AGCTTCCAGCGCAAGTGGTTT	NM_014662	NP_055477	32275577	O75140	DEPD5_HUMAN	0			37	3921	+	A	A			Missense_Mutation	1260						
DEPDC5	0	broad.mit.edu	GRCh37	22	32234828	32234828	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400246.1:c.2512C>T	p.Arg838Ter	p.R838*	ENST00000400246		838	Cga/Tga	0			1			T	R/*	uc003als.2	protein_coding					2512/4659									ovary(4)|central_nervous_system(3)|pancreas(1)	8	c.(2485-2487)CGA>TGA			hmmpanther:PTHR13179	DEP domain containing 5 isoform 1				ENSP00000383105		27/42									COSM3405612,COSM3405614,COSM3405613	27/42	.		ENST00000400246	Transcript	1		intracellular signal transduction			ENSG00000100150	g.chr22:32234828C>T	18423			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,22,32234828,C,T&fts=all	R829*	--	--	1																																		DEPDC5_uc011als.1_Nonsense_Mutation_p.R760*|DEPDC5_uc011alu.1_Nonsense_Mutation_p.R838*|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Nonsense_Mutation_p.R829*|DEPDC5_uc003alu.2_Nonsense_Mutation_p.R278*|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Nonsense_Mutation_p.R159*|DEPDC5_uc003alw.2_Nonsense_Mutation_p.R127*|DEPDC5_uc011alx.1_Intron	1,1,1				p.R829*	NM_014662	NP_055477			1,1,1	DEPD5_HUMAN	DEPDC5	HGNC	O75140	DEPD5_HUMAN			C9JGS4_HUMAN		27	2627	+			UPI00004708D4	829					SNV	DEPDC5,stop_gained,p.Arg838Ter,ENST00000400246,;DEPDC5,stop_gained,p.Arg838Ter,ENST00000266091,;DEPDC5,stop_gained,p.Arg829Ter,ENST00000400249,NM_014662.3;DEPDC5,stop_gained,p.Arg829Ter,ENST00000382112,NM_001136029.2,NM_001242896.1;DEPDC5,stop_gained,p.Arg829Ter,ENST00000400248,;DEPDC5,stop_gained,p.Arg838Ter,ENST00000382111,;DEPDC5,stop_gained,p.Arg760Ter,ENST00000382105,;DEPDC5,stop_gained,p.Arg760Ter,ENST00000535622,NM_001242897.1;DEPDC5,stop_gained,p.Arg236Ter,ENST00000433147,;DEPDC5,downstream_gene_variant,,ENST00000536766,;RNU6-201P,downstream_gene_variant,,ENST00000517100,;DEPDC5,downstream_gene_variant,,ENST00000462414,;DEPDC5,stop_gained,p.Arg190Ter,ENST00000448753,;DEPDC5,non_coding_transcript_exon_variant,,ENST00000490731,;DEPDC5,non_coding_transcript_exon_variant,,ENST00000471914,;DEPDC5,downstream_gene_variant,,ENST00000494065,;	uc003als.2	c.2485C>T	2654/5410	5	1			c.2485C>T						22	SNP	c.(2485-2487)CGA>TGA	9	9			ovary(4)|central_nervous_system(3)|pancreas(1)	8	Broad	DEP domain containing 5 isoform 1			32234828		0.458	ENSG00000100150	4365	g.chr22:32234828C>T	intracellular signal transduction									287.149797	KEEP	38	54	-1	20	19	38	54	-1	292.145206	20	19	0.717949	1	0	0	0	0	0	1	0	0	--	--		0	T			DEPDC5_uc011als.1_Nonsense_Mutation_p.R760*|DEPDC5_uc011alu.1_Nonsense_Mutation_p.R838*|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Nonsense_Mutation_p.R829*|DEPDC5_uc003alu.2_Nonsense_Mutation_p.R278*|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Nonsense_Mutation_p.R159*|DEPDC5_uc003alw.2_Nonsense_Mutation_p.R127*|DEPDC5_uc011alx.1_Intron	269	GBM-76-4929-TP	p.R829*	C	ACTCTATAGCCGAGGTGAGTT	NM_014662	NP_055477	32234828	O75140	DEPD5_HUMAN	0			27	2627	+	T	T			Nonsense_Mutation	829						
DEPDC7	0	broad.mit.edu	GRCh37	11	33049298	33049299	+	frameshift_variant	Frame_Shift_Del	DEL	TC	TC	-			TCGA-28-2502-01	TCGA-28-2502-01	TC	TC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000241051.3:c.532_533delCT	p.Leu178GlufsTer22	p.L178Efs*22	ENST00000241051	NM_001077242.1	177	aaTCtg/aatg	0			1			-	NL/NX	uc001mub.2	protein_coding	YES	CCDS41632.1			531-532/1536									ovary(1)|skin(1)	2	c.(529-534)AATCTGfs			Superfamily_domains:SSF46785,Gene3D:1.10.10.10,hmmpanther:PTHR16206,hmmpanther:PTHR16206:SF9	novel 58.3 KDA protein isoform 1				ENSP00000241051		9-Mar										9-Mar	.		ENST00000241051	Transcript			regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	ENSG00000121690	g.chr11:33049298_33049299delTC	29899	1		HIGH								--	--	1																																		DEPDC7_uc010reh.1_Frame_Shift_Del_p.N177fs|DEPDC7_uc001muc.2_Frame_Shift_Del_p.N168fs		1			p.N177fs	NM_001077242	NP_001070710				DEPD7_HUMAN	DEPDC7	HGNC	Q96QD5	DEPD7_HUMAN					3	623_624	+			UPI000006E96C	177_178					deletion	DEPDC7,frameshift_variant,p.Leu169GlufsTer22,ENST00000311388,NM_139160.2;DEPDC7,frameshift_variant,p.Leu178GlufsTer22,ENST00000241051,NM_001077242.1;DEPDC7,non_coding_transcript_exon_variant,,ENST00000532078,;DEPDC7,downstream_gene_variant,,ENST00000427755,;	uc001mub.2	c.531_532delTC	623-624/1755	5	5			c.531_532delTC						11	DEL	c.(529-534)AATCTGfs	8	8			ovary(1)|skin(1)	2	Broad	novel 58.3 KDA protein isoform 1			33049299		0.287	ENSG00000121690	4367	g.chr11:33049298_33049299delTC	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity																				0.3	1	1	0	1	0	0	0	0	0	--	--		0	-			DEPDC7_uc010reh.1_Frame_Shift_Del_p.N177fs|DEPDC7_uc001muc.2_Frame_Shift_Del_p.N168fs	210	GBM-28-2502-TP	p.N177fs	TC	TGTGggaaaatctgagtttaaa	NM_001077242	NP_001070710	33049298	Q96QD5	DEPD7_HUMAN	0			3	623_624	+	-	-			Frame_Shift_Del	177_178						
DEPTOR	0	broad.mit.edu	GRCh37	8	120977651	120977651	+	splice_donor_variant	Splice_Site	SNP	G	G	T			TCGA-41-5651-01	TCGA-41-5651-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286234.5:c.604+1G>T		p.X202_splice	ENST00000286234	NM_022783.2			0			1			T		uc003yow.3	protein_coding	YES	CCDS6331.1			604/1230										0	c.e4+1				DEP domain containing 6				ENSP00000286234											COSM3412725		.		ENST00000286234	Transcript			intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding	ENSG00000155792	g.chr8:120977651G>T	22953			HIGH	8-Apr							--	--	1																																		DEPDC6_uc011lid.1_Splice_Site_p.V101_splice	1	1			p.V202_splice	NM_022783	NP_073620			1	DPTOR_HUMAN	DEPTOR	HGNC	Q8TB45	DPTOR_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)				4	791	+	Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		UPI000013DE38						SNV	DEPTOR,splice_donor_variant,,ENST00000286234,NM_022783.2;DEPTOR,splice_donor_variant,,ENST00000523492,NM_001283012.1;DEPTOR,upstream_gene_variant,,ENST00000518057,;	uc003yow.3	c.604_splice	-/2569	5	2			c.604_splice						8	SNP	c.e4+1	47	47				0	Broad	DEP domain containing 6			120977651		0.303	ENSG00000155792	4366	g.chr8:120977651G>T	intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding							80.097917	KEEP	15	14	0.517241379	28	33	15	14	0.517241379	82.608965	28	33	0.317647	1	0	0	0	0	0	0	0	1	--	--		0	T			DEPDC6_uc011lid.1_Splice_Site_p.V101_splice	258	GBM-41-5651-TP	p.V202_splice	G	ATCCAGCATGGTGAGCgtatt	NM_022783	NP_073620	120977651	Q8TB45	DPTOR_HUMAN	0	STAD - Stomach adenocarcinoma(47;0.00185)		4	791	+	T	T	Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		Splice_Site							
DEPTOR	64798		GRCh37	8	121021282	121021282	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000286234.5:c.1011G>A	p.Ala337=	p.A337=	ENST00000286234	NM_022783.2	337	gcG/gcA	0																																																																																																																																																																																																																																												
DERL2	0	broad.mit.edu	GRCh37	17	5383436	5383436	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-32-4210-01	TCGA-32-4210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000158771.4:c.552C>A	p.Phe184Leu	p.F184L	ENST00000158771	NM_016041.3	184	ttC/ttA	0			1			T	F/L	uc002gcc.1	protein_coding	YES	CCDS11073.1			552/720										0	c.(550-552)TTC>TTA			Transmembrane_helices:TMhelix,hmmpanther:PTHR11009,hmmpanther:PTHR11009:SF5,Pfam_domain:PF04511,Superfamily_domains:SSF144091	Der1-like domain family, member 2				ENSP00000158771		7-Jun									COSM3403028	7-Jun	.		ENST00000158771	Transcript			endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	protein binding	ENSG00000072849	g.chr17:5383436G>T	17943			MODERATE		3.33	medium	getma.org/?cm=msa&ty=f&p=DERL2_HUMAN&rb=13&re=203&var=F184L	NA	getma.org/?cm=var&var=hg19,17,5383436,G,T&fts=all	F184L	--	--	1																																			1	1		probably_damaging(0.954)	p.F184L	NM_016041	NP_057125		deleterious(0)	1	DERL2_HUMAN	DERL2	HGNC	Q9GZP9	DERL2_HUMAN					6	568	-			UPI0000071535	184			Helical; Name=4; (Potential).		SNV	DERL2,missense_variant,p.Phe184Leu,ENST00000158771,NM_016041.3;DERL2,missense_variant,p.Ser133Tyr,ENST00000570848,;DERL2,missense_variant,p.Phe185Leu,ENST00000571971,;DERL2,missense_variant,p.Ser63Tyr,ENST00000572834,;DERL2,missense_variant,p.Phe103Leu,ENST00000575605,;DERL2,downstream_gene_variant,,ENST00000571968,;DERL2,3_prime_UTR_variant,,ENST00000576551,;DERL2,3_prime_UTR_variant,,ENST00000571476,;DERL2,non_coding_transcript_exon_variant,,ENST00000573547,;DERL2,downstream_gene_variant,,ENST00000574700,;DERL2,downstream_gene_variant,,ENST00000573637,;DERL2,downstream_gene_variant,,ENST00000575209,;DERL2,downstream_gene_variant,,ENST00000574952,;	uc002gcc.1	c.552C>A	608/4209	1	1			c.552C>A						17	SNP	c.(550-552)TTC>TTA	7	7				0	Broad	Der1-like domain family, member 2			5383436		0.358	ENSG00000072849	4370	g.chr17:5383436G>T	endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	protein binding							228.213876	KEEP	50	57	0.46728972	104	99	50	57	0.46728972	234.155029	104	99	0.338521	1	0	0	0	0	1	0	0	0	--	--		0	T				245	GBM-32-4210-TP	p.F184L	G	CATCTTCCAAGAAAAAATATA	NM_016041	NP_057125	5383436	Q9GZP9	DERL2_HUMAN	0			6	568	-	T	T			Missense_Mutation	184			Helical; Name=4; (Potential).			
DERL3	91319	broad.mit.edu	GRCh37	22	24179323	24179323	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0174-01	TCGA-06-0174-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000406855.3:c.542T>C	p.Ile181Thr	p.I181T	ENST00000406855	NM_198440.3	181	aTc/aCc	0			1			G	I/T	uc002zyh.2	protein_coding		CCDS33615.1			542/708									ovary(1)	1	c.(541-543)ATC>ACC			Pfam_domain:PF04511,hmmpanther:PTHR11009,hmmpanther:PTHR11009:SF4,Superfamily_domains:SSF144091	derlin 3 isoform 2				ENSP00000315303		7-Jun									COSM3405546	7-Jun	.		ENST00000318109	Transcript			endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process	integral to endoplasmic reticulum membrane	protein binding	ENSG00000099958	g.chr22:24179323A>G	14236			MODERATE		1.18	low	getma.org/?cm=msa&ty=f&p=DERL3_HUMAN&rb=13&re=203&var=I181T	NA	getma.org/?cm=var&var=hg19,22,24179323,A,G&fts=all	I181T	--	--	1																																		DERL3_uc002zyk.3_Missense_Mutation_p.I181T|DERL3_uc002zyi.2_Missense_Mutation_p.I181T|DERL3_uc002zyj.2_Silent_p.Y137Y	1			benign(0.077)	p.I181T	NM_001002862	NP_001002862		tolerated(0.1)	1	DERL3_HUMAN	DERL3	HGNC	Q96Q80	DERL3_HUMAN					6	567	-			UPI00001D62B4	181			Cytoplasmic (Potential).		SNV	DERL3,missense_variant,p.Ile154Thr,ENST00000404056,;DERL3,missense_variant,p.Ile181Thr,ENST00000406855,NM_198440.3,NM_001002862.2,NM_001135751.1;DERL3,missense_variant,p.Ile181Thr,ENST00000476077,;DERL3,missense_variant,p.Ile181Thr,ENST00000318109,;SMARCB1,downstream_gene_variant,,ENST00000344921,;SMARCB1,downstream_gene_variant,,ENST00000263121,NM_003073.3;SMARCB1,downstream_gene_variant,,ENST00000407422,NM_001007468.1;SMARCB1,downstream_gene_variant,,ENST00000407082,;DERL3,non_coding_transcript_exon_variant,,ENST00000488272,;DERL3,non_coding_transcript_exon_variant,,ENST00000464034,;DERL3,non_coding_transcript_exon_variant,,ENST00000493596,;DERL3,upstream_gene_variant,,ENST00000464023,;DERL3,non_coding_transcript_exon_variant,,ENST00000290730,;DERL3,non_coding_transcript_exon_variant,,ENST00000464110,;	uc002zyh.2	c.542T>C	559/860	3	3			c.542T>C						22	SNP	c.(541-543)ATC>ACC	50	50			ovary(1)	1	Broad	derlin 3 isoform 2			24179323		0.632	ENSG00000099958	4371	g.chr22:24179323A>G	endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process	integral to endoplasmic reticulum membrane	protein binding							114.61546	KEEP	16	25	-1	28	31	16	25	-1	115.263557	28	31	0.406977	1	0	0	0	0	1	0	0	0	--	--		0	G			DERL3_uc002zyk.3_Missense_Mutation_p.I181T|DERL3_uc002zyi.2_Missense_Mutation_p.I181T|DERL3_uc002zyj.2_Silent_p.Y137Y	37	GBM-06-0174-TP	p.I181T	A	GAAGTAGTAGATATGGCCCAC	NM_001002862	NP_001002862	24179323	Q96Q80	DERL3_HUMAN	0			6	567	-	G	G			Missense_Mutation	181			Cytoplasmic (Potential).			
DES	1674	broad.mit.edu	GRCh37	2	220286104	220286104	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-02-0047-01	TCGA-02-0047-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373960.3:c.1066T>A	p.Phe356Ile	p.F356I	ENST00000373960	NM_001927.3	356	Ttt/Att	0			1			A	F/I	uc002vll.2	protein_coding	YES	CCDS33383.1			1066/1413								p.F356I(1)	central_nervous_system(2)	2	c.(1066-1068)TTT>ATT			Gene3D:1.20.5.170,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF28,Superfamily_domains:SSF64593	desmin				ENSP00000363071		9-Jun									COSM42844	9-Jun	.		ENST00000373960	Transcript	1		cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton	ENSG00000175084	g.chr2:220286104T>A	2770			MODERATE		2.47	medium	getma.org/?cm=msa&ty=f&p=DESM_HUMAN&rb=107&re=415&var=F356I	getma.org/pdb.php?prot=DESM_HUMAN&from=107&to=415&var=F356I	getma.org/?cm=var&var=hg19,2,220286104,T,A&fts=all	F356I	--	--	1																																			1	1		possibly_damaging(0.589)	p.F356I	NM_001927	NP_001918		deleterious(0.02)	1	DESM_HUMAN	DES	HGNC	P17661	DESM_HUMAN		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)	Q53SB5_HUMAN,Q9GZR6_HUMAN,Q2PUK1_HUMAN,L7R9R4_HUMAN		6	1152	+		Renal(207;0.0183)	UPI0000001603	356			Rod.|Coil 2B.		SNV	DES,missense_variant,p.Phe356Ile,ENST00000373960,NM_001927.3;AC053503.6,downstream_gene_variant,,ENST00000431827,;DES,non_coding_transcript_exon_variant,,ENST00000477226,;DES,non_coding_transcript_exon_variant,,ENST00000492726,;DES,upstream_gene_variant,,ENST00000483395,;	uc002vll.2	c.1066T>A	1152/2248	2	2			c.1066T>A						2	SNP	c.(1066-1068)TTT>ATT	26	26		p.F356I(1)	central_nervous_system(2)	2	Broad	desmin			220286104		0.587	ENSG00000175084	4372	g.chr2:220286104T>A	cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton							61.97741	KEEP	19	12	-1	43	25	19	12	-1	64.134604	43	25	0.32	1	0	0	0	0	1	0	0	0	--	--		0	A				3	GBM-02-0047-TP	p.F356I	T	GGAGGACCGATTTGCCAGTGA	NM_001927	NP_001918	220286104	P17661	DESM_HUMAN	0		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)	6	1152	+	A	A		Renal(207;0.0183)	Missense_Mutation	356			Rod.|Coil 2B.			
DES	1674	broad.mit.edu	GRCh37	2	220290674	220290674	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs73991549	byFrequency;by1000genomes	TCGA-06-0158-01	TCGA-06-0158-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373960.3:c.1375G>A	p.Val459Ile	p.V459I	ENST00000373960	NM_001927.3	459	Gtc/Atc	0	A:0.0356,A:0.0356,A:0.0356	A:0.0325,A:0.0325,A:0.0325	1	A:0.0072,A:0.0072,A:0.0072		A	V/I	uc002vll.2	protein_coding	YES	CCDS33383.1			1375/1413						benign		p.V459I(1)	central_nervous_system(2)	2	c.(1375-1377)GTC>ATC			hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF28	desmin		A:0,A:0,A:0	A:0.0001,A:0.0001,A:0.0001	ENSP00000363071	A:0.001,A:0.001,A:0.001	9-Sep	0.00303	0.0311	0.0019	0.000116		0.00012	0.0022	0.000727	rs73991549,HIFD_DES:c.1375G>A,DES:c.1375G>A,COSM42845	9-Sep	common_variant		ENST00000373960	Transcript	1	A:0.0098	cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton	ENSG00000175084	g.chr2:220290674G>A	2770			MODERATE		1.31	low	getma.org/?cm=msa&ty=f&p=DESM_HUMAN&rb=416&re=470&var=V459I	NA	getma.org/?cm=var&var=hg19,2,220290674,G,A&fts=all	V459I	--	--	1																																			1,0,0,1	1		benign(0.013)	p.V459I	NM_001927	NP_001918	A:0,A:0,A:0	tolerated(1)	0,0,0,1	DESM_HUMAN	DES	HGNC	P17661	DESM_HUMAN		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)	Q53SB5_HUMAN,Q9GZR6_HUMAN,Q2PUK1_HUMAN,L7R9R4_HUMAN		9	1461	+		Renal(207;0.0183)	UPI0000001603	459			Tail.		SNV	DES,missense_variant,p.Val459Ile,ENST00000373960,NM_001927.3;AC053503.6,intron_variant,,ENST00000431827,;DES,non_coding_transcript_exon_variant,,ENST00000483395,;DES,downstream_gene_variant,,ENST00000477226,;DES,downstream_gene_variant,,ENST00000492726,;	uc002vll.2	c.1375G>A	1461/2248	2	2			c.1375G>A						2	SNP	c.(1375-1377)GTC>ATC	45	45		p.V459I(1)	central_nervous_system(2)	2	Broad	desmin			220290674		0.607	ENSG00000175084	4372	g.chr2:220290674G>A	cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton							215.958287	KEEP	46	41	-1	66	65	46	41	-1	217.430809	66	65	0.403315	1	0	0	0	0	1	0	0	0	--	--		0	A				29	GBM-06-0158-TP	p.V459I	G	TCCCCAGGTCGTCAGTGAGGC	NM_001927	NP_001918	220290674	P17661	DESM_HUMAN	0		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)	9	1461	+	A	A		Renal(207;0.0183)	Missense_Mutation	459			Tail.			
DES	1674		GRCh37	2	220286194	220286194	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000373960.3:c.1156C>T	p.Arg386Cys	p.R386C	ENST00000373960	NM_001927.3	386	Cgc/Tgc	0																																																																																																																																																																																																																																												
DFNB59	0	broad.mit.edu	GRCh37	2	179325759	179325759	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-2491-01	TCGA-32-2491-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375129.4:c.817C>A	p.Leu273Ile	p.L273I	ENST00000375129		273	Ctt/Att	0			1			A	L/I	uc002umi.3	protein_coding		CCDS42787.1			817/1059										0	c.(817-819)CTT>ATT			Low_complexity_(Seg):seg,hmmpanther:PTHR16399,hmmpanther:PTHR16399:SF10	deafness, autosomal recessive 59				ENSP00000364271		6-Jun									COSM3407083	6-Jun	.		ENST00000375129	Transcript	1		sensory perception of sound			ENSG00000204311	g.chr2:179325759C>A	29502			MODERATE		0.205	neutral	getma.org/?cm=msa&ty=f&p=PJVK_HUMAN&rb=1&re=275&var=L273I	NA	getma.org/?cm=var&var=hg19,2,179325759,C,A&fts=all	L273I	--	--	1																																		DFNB59_uc002umj.3_Missense_Mutation_p.L273I	1			benign(0.037)	p.L273I	NM_001042702	NP_001036167		tolerated(0.2)	1	PJVK_HUMAN	DFNB59	HGNC	Q0ZLH3	PJVK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		A0PK15_HUMAN		7	1173	+			UPI0000DAD718	273					SNV	DFNB59,missense_variant,p.Leu273Ile,ENST00000409117,NM_001042702.3;DFNB59,missense_variant,p.Leu273Ile,ENST00000375129,;DFNB59,3_prime_UTR_variant,,ENST00000442710,;FKBP7,downstream_gene_variant,,ENST00000424785,NM_001135212.1,NM_181342.2;FKBP7,downstream_gene_variant,,ENST00000434643,;FKBP7,downstream_gene_variant,,ENST00000464248,;FKBP7,downstream_gene_variant,,ENST00000470945,;DFNB59,downstream_gene_variant,,ENST00000605419,;DFNB59,non_coding_transcript_exon_variant,,ENST00000437056,;FKBP7,downstream_gene_variant,,ENST00000233092,;FKBP7,downstream_gene_variant,,ENST00000435079,;FKBP7,downstream_gene_variant,,ENST00000419184,;DFNB59,downstream_gene_variant,,ENST00000444615,;	uc002umi.3	c.817C>A	960/1202	2	2			c.817C>A						2	SNP	c.(817-819)CTT>ATT	45	45				0	Broad	deafness, autosomal recessive 59			179325759		0.348	ENSG00000204311	4379	g.chr2:179325759C>A	sensory perception of sound									205.479431	KEEP	44	50	0.531914894	91	154	44	50	0.531914894	218.324658	91	154	0.280405	1	0	0	0	0	1	0	0	0	--	--		0	A			DFNB59_uc002umj.3_Missense_Mutation_p.L273I	235	GBM-32-2491-TP	p.L273I	C	CTTGGATGATCTTTTTTCTGA	NM_001042702	NP_001036167	179325759	Q0ZLH3	PJVK_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		7	1173	+	A	A			Missense_Mutation	273						
DGAT2L6	0	broad.mit.edu	GRCh37	X	69420246	69420246	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-19-5954-01	TCGA-19-5954-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333026.3:c.409T>A	p.Phe137Ile	p.F137I	ENST00000333026	NM_198512.1	137	Ttt/Att	0			1			A	F/I	uc004dxx.1	protein_coding	YES	CCDS14397.1			409/1014									ovary(1)	1	c.(409-411)TTT>ATT			Pfam_domain:PF03982,hmmpanther:PTHR12317,hmmpanther:PTHR12317:SF11	diacylglycerol O-acyltransferase 2-like 6				ENSP00000328036		7-Apr									COSM2156724	7-Apr	.		ENST00000333026	Transcript			lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	ENSG00000184210	g.chrX:69420246T>A	23250			MODERATE		2.165	medium	getma.org/?cm=msa&ty=f&p=DG2L6_HUMAN&rb=38&re=337&var=F137I	NA	getma.org/?cm=var&var=hg19,X,69420246,T,A&fts=all	F137I	--	--	1																																			1	1		benign(0.047)	p.F137I	NM_198512	NP_940914		tolerated(0.08)	1	DG2L6_HUMAN	DGAT2L6	HGNC	Q6ZPD8	DG2L6_HUMAN					4	506	+			UPI00001C10BF	137					SNV	DGAT2L6,missense_variant,p.Phe137Ile,ENST00000333026,NM_198512.1;	uc004dxx.1	c.409T>A	509/1553	2	2			c.409T>A						23	SNP	c.(409-411)TTT>ATT	32	32			ovary(1)	1	Broad	diacylglycerol O-acyltransferase 2-like 6			69420246		0.413	ENSG00000184210	4381	g.chrX:69420246T>A	lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity							81.885368	KEEP	17	16	-1	19	25	17	16	-1	82.280166	19	25	0.41791	1	0	0	0	0	1	0	0	0	--	--		0	A				174	GBM-19-5954-TP	p.F137I	T	CATCACTCCCTTTGTAGGGAC	NM_198512	NP_940914	69420246	Q6ZPD8	DG2L6_HUMAN	0			4	506	+	A	A			Missense_Mutation	137						
DGAT2L6	347516		GRCh37	X	69421881	69421881	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000333026.3:c.614G>A	p.Arg205His	p.R205H	ENST00000333026	NM_198512.1	205	cGt/cAt	0																																																																																																																																																																																																																																												
DGCR8	54487	broad.mit.edu	GRCh37	22	20074008	20074008	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-2562-01	TCGA-06-2562-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000351989.3:c.522A>G	p.Ile174Met	p.I174M	ENST00000351989	NM_022720.6	174	atA/atG	0			1			G	I/M	uc002zri.2	protein_coding	YES	CCDS13773.1			522/2322										0	c.(520-522)ATA>ATG			Low_complexity_(Seg):seg,hmmpanther:PTHR13482,hmmpanther:PTHR13482:SF2	DiGeorge syndrome critical region gene 8				ENSP00000263209		14-Feb									COSM3405514	14-Feb	.		ENST00000351989	Transcript			primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	ENSG00000128191	g.chr22:20074008A>G	2847			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=DGCR8_HUMAN&rb=1&re=200&var=I174M	NA	getma.org/?cm=var&var=hg19,22,20074008,A,G&fts=all	I174M	--	--	1																																		DGCR8_uc010grz.2_Missense_Mutation_p.I174M|DGCR8_uc002zrj.2_5'Flank	1	1		benign(0.044)	p.I174M	NM_022720	NP_073557		tolerated_low_confidence(0.16)	1	DGCR8_HUMAN	DGCR8	HGNC	Q8WYQ5	DGCR8_HUMAN			C9JSD5_HUMAN		2	872	+	Colorectal(54;0.0993)		UPI0000129225	174			Necessary for nuclear localization and retention.|Necessary for interaction with NCL.		SNV	DGCR8,missense_variant,p.Ile174Met,ENST00000351989,NM_022720.6;DGCR8,missense_variant,p.Ile174Met,ENST00000383024,NM_001190326.1;DGCR8,missense_variant,p.Ile174Met,ENST00000407755,;DGCR8,downstream_gene_variant,,ENST00000457069,;MIR3618,downstream_gene_variant,,ENST00000580330,;MIR1306,downstream_gene_variant,,ENST00000408439,;DGCR8,non_coding_transcript_exon_variant,,ENST00000495826,;DGCR8,upstream_gene_variant,,ENST00000498171,;	uc002zri.2	c.522A>G	951/4514	3	3			c.522A>G						22	SNP	c.(520-522)ATA>ATG	7	7				0	Broad	DiGeorge syndrome critical region gene 8			20074008		0.552	ENSG00000128191	4386	g.chr22:20074008A>G	primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding							-37.176434	KEEP	1	2	-1	80	96	1	2	-1	6.50885	80	96	0.017964	1	0	0	0	0	1	0	0	0	--	--		0	G			DGCR8_uc010grz.2_Missense_Mutation_p.I174M|DGCR8_uc002zrj.2_5'Flank	85	GBM-06-2562-TP	p.I174M	A	GGGTAGGCATAGGGGGTGAGA	NM_022720	NP_073557	20074008	Q8WYQ5	DGCR8_HUMAN	0			2	872	+	G	G	Colorectal(54;0.0993)		Missense_Mutation	174			Necessary for nuclear localization and retention.|Necessary for interaction with NCL.			
DGKA	1606	broad.mit.edu	GRCh37	12	56330335	56330335	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5410-01	TCGA-06-5410-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331886.5:c.48G>A	p.Leu16=	p.L16=	ENST00000331886	NM_001345.4	16	ctG/ctA	0			1			A	L	uc001sij.2	protein_coding	YES	CCDS8896.1			48/2208									ovary(3)|pancreas(1)	4	c.(46-48)CTG>CTA			Superfamily_domains:SSF47473,Gene3D:1tuzA00,Pfam_domain:PF14513,hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF38	diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)			ENSP00000328405		24-Feb									COSM3398882	24-Feb	.		ENST00000331886	Transcript			activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	ENSG00000065357	g.chr12:56330335G>A	2849			LOW								--	--	1																																		DGKA_uc009zoc.1_Silent_p.L16L|DGKA_uc001sih.1_5'UTR|DGKA_uc001sii.1_5'UTR|DGKA_uc009zod.1_Silent_p.L16L|DGKA_uc009zoe.1_Silent_p.L16L|DGKA_uc001sik.2_Silent_p.L16L|DGKA_uc001sil.2_Silent_p.L16L|DGKA_uc001sim.2_Silent_p.L16L|DGKA_uc001sin.2_Silent_p.L16L|DGKA_uc009zof.2_5'UTR|DGKA_uc001sio.2_5'UTR	1	1			p.L16L	NM_001345	NP_001336			1	DGKA_HUMAN	DGKA	HGNC	P23743	DGKA_HUMAN			G3V4I3_HUMAN,G3V327_HUMAN,F8W1M3_HUMAN,F8W1H7_HUMAN,F8VWX8_HUMAN,F8VNZ9_HUMAN,C9JM35_HUMAN		2	312	+			UPI000007417B	16					SNV	DGKA,synonymous_variant,p.=,ENST00000331886,NM_001345.4;DGKA,synonymous_variant,p.=,ENST00000394147,NM_201445.1,NM_201444.2,NM_201554.1;DGKA,synonymous_variant,p.=,ENST00000551156,;DGKA,synonymous_variant,p.=,ENST00000555218,;DGKA,synonymous_variant,p.=,ENST00000551707,;DGKA,synonymous_variant,p.=,ENST00000432422,;DGKA,synonymous_variant,p.=,ENST00000555090,;DGKA,synonymous_variant,p.=,ENST00000549368,;DGKA,synonymous_variant,p.=,ENST00000553783,;DGKA,synonymous_variant,p.=,ENST00000546878,;DGKA,synonymous_variant,p.=,ENST00000549629,;DGKA,synonymous_variant,p.=,ENST00000555025,;DGKA,synonymous_variant,p.=,ENST00000547015,;DGKA,synonymous_variant,p.=,ENST00000557080,;DGKA,synonymous_variant,p.=,ENST00000556001,;DGKA,upstream_gene_variant,,ENST00000552903,;WIBG,upstream_gene_variant,,ENST00000547925,;DGKA,non_coding_transcript_exon_variant,,ENST00000549323,;DGKA,upstream_gene_variant,,ENST00000549079,;DGKA,downstream_gene_variant,,ENST00000550115,;DGKA,downstream_gene_variant,,ENST00000548378,;DGKA,synonymous_variant,p.=,ENST00000402956,;DGKA,synonymous_variant,p.=,ENST00000553084,;DGKA,synonymous_variant,p.=,ENST00000550888,;DGKA,synonymous_variant,p.=,ENST00000548549,;DGKA,non_coding_transcript_exon_variant,,ENST00000552478,;DGKA,non_coding_transcript_exon_variant,,ENST00000551296,;DGKA,non_coding_transcript_exon_variant,,ENST00000549097,;DGKA,non_coding_transcript_exon_variant,,ENST00000547358,;DGKA,non_coding_transcript_exon_variant,,ENST00000548407,;DGKA,non_coding_transcript_exon_variant,,ENST00000548479,;DGKA,non_coding_transcript_exon_variant,,ENST00000547324,;DGKA,non_coding_transcript_exon_variant,,ENST00000546995,;DGKA,non_coding_transcript_exon_variant,,ENST00000547535,;DGKA,non_coding_transcript_exon_variant,,ENST00000551615,;DGKA,upstream_gene_variant,,ENST00000551739,;DGKA,upstream_gene_variant,,ENST00000548047,;DGKA,upstream_gene_variant,,ENST00000552652,;DGKA,upstream_gene_variant,,ENST00000552335,;DGKA,upstream_gene_variant,,ENST00000554434,;DGKA,upstream_gene_variant,,ENST00000552687,;DGKA,upstream_gene_variant,,ENST00000557180,;DGKA,upstream_gene_variant,,ENST00000551585,;DGKA,upstream_gene_variant,,ENST00000546895,;DGKA,upstream_gene_variant,,ENST00000549986,;DGKA,upstream_gene_variant,,ENST00000556344,;DGKA,upstream_gene_variant,,ENST00000549085,;DGKA,upstream_gene_variant,,ENST00000550484,;	uc001sij.2	c.48G>A	502/2909	2	2			c.48G>A						12	SNP	c.(46-48)CTG>CTA	22	22			ovary(3)|pancreas(1)	4	Broad	diacylglycerol kinase, alpha 80kDa		Vitamin E(DB00163)	56330335		0.527	ENSG00000065357	4387	g.chr12:56330335G>A	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity							-3.353449	KEEP	3	3	-1	32	30	3	3	-1	7.549202	32	30	0.070175	1	0	0	0	0	0	0	1	0	--	--		0	A			DGKA_uc009zoc.1_Silent_p.L16L|DGKA_uc001sih.1_5'UTR|DGKA_uc001sii.1_5'UTR|DGKA_uc009zod.1_Silent_p.L16L|DGKA_uc009zoe.1_Silent_p.L16L|DGKA_uc001sik.2_Silent_p.L16L|DGKA_uc001sil.2_Silent_p.L16L|DGKA_uc001sim.2_Silent_p.L16L|DGKA_uc001sin.2_Silent_p.L16L|DGKA_uc009zof.2_5'UTR|DGKA_uc001sio.2_5'UTR	93	GBM-06-5410-TP	p.L16L	G	TTGCCCAGCTGCAAAAATACA	NM_001345	NP_001336	56330335	P23743	DGKA_HUMAN	0			2	312	+	A	A			Silent	16						
DGKA	1606		GRCh37	12	56336026	56336026	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000331886.5:c.1405C>T	p.Arg469Ter	p.R469*	ENST00000331886	NM_001345.4	469	Cga/Tga	0																																																																																																																																																																																																																																												
DGKB	0	broad.mit.edu	GRCh37	7	14733777	14733777	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01	TCGA-27-1838-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399322.3:c.634G>A	p.Gly212Arg	p.G212R	ENST00000399322	NM_004080.2	212	Gga/Aga	0			1			T	G/R	uc003ssz.2	protein_coding		CCDS47547.1			634/2415									lung(5)|ovary(4)|breast(2)|skin(1)	12	c.(634-636)GGA>AGA			Superfamily_domains:SSF47473,SMART_domains:SM00054,Gene3D:1.10.238.10,Pfam_domain:PF13499,PROSITE_patterns:PS00018,hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF32,PROSITE_profiles:PS50222	diacylglycerol kinase, beta isoform 1	Phosphatidylserine(DB00144)			ENSP00000382260		25-Aug									COSM3411761,COSM3411762	25-Aug	.		ENST00000399322	Transcript			activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	ENSG00000136267	g.chr7:14733777C>T	2850			MODERATE		3.98	high	getma.org/?cm=msa&ty=f&p=DGKB_HUMAN&rb=148&re=222&var=G212R	getma.org/pdb.php?prot=DGKB_HUMAN&from=148&to=222&var=G212R	getma.org/?cm=var&var=hg19,7,14733777,C,T&fts=all	G212R	--	--	1																																		DGKB_uc011jxt.1_Missense_Mutation_p.G205R|DGKB_uc003sta.2_Missense_Mutation_p.G212R|DGKB_uc011jxu.1_Missense_Mutation_p.G212R|DGKB_uc011jxv.1_Missense_Mutation_p.G212R	1,1			probably_damaging(0.998)	p.G212R	NM_004080	NP_004071		deleterious(0)	1,1	DGKB_HUMAN	DGKB	HGNC	Q9Y6T7	DGKB_HUMAN			C9JA18_HUMAN,B7Z3B3_HUMAN		8	821	-			UPI0000033B9B	212			EF-hand 2.|2 (Potential).		SNV	DGKB,missense_variant,p.Gly212Arg,ENST00000403951,;DGKB,missense_variant,p.Gly212Arg,ENST00000258767,;DGKB,missense_variant,p.Gly212Arg,ENST00000399322,NM_004080.2;DGKB,missense_variant,p.Gly212Arg,ENST00000402815,;DGKB,missense_variant,p.Gly205Arg,ENST00000407950,;DGKB,missense_variant,p.Gly205Arg,ENST00000444700,;DGKB,missense_variant,p.Gly212Arg,ENST00000406247,NM_145695.2;DGKB,non_coding_transcript_exon_variant,,ENST00000403963,;DGKB,intron_variant,,ENST00000471732,;DGKB,non_coding_transcript_exon_variant,,ENST00000477401,;DGKB,non_coding_transcript_exon_variant,,ENST00000464065,;	uc003ssz.2	c.634G>A	821/6684	1	1			c.634G>A						7	SNP	c.(634-636)GGA>AGA	14	14			lung(5)|ovary(4)|breast(2)|skin(1)	12	Broad	diacylglycerol kinase, beta isoform 1		Phosphatidylserine(DB00144)	14733777		0.418	ENSG00000136267	4388	g.chr7:14733777C>T	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			800			800	14.902667	KEEP	6	2	-1	18	16	6	2	-1	17.834912	18	16	0.2	1	0	0	0	0	1	0	0	0	--	--		0	T			DGKB_uc011jxt.1_Missense_Mutation_p.G205R|DGKB_uc003sta.2_Missense_Mutation_p.G212R|DGKB_uc011jxu.1_Missense_Mutation_p.G212R|DGKB_uc011jxv.1_Missense_Mutation_p.G212R	197	GBM-27-1838-TP	p.G212R	C	GACACGGTTCCATCATGATCA	NM_004080	NP_004071	14733777	Q9Y6T7	DGKB_HUMAN	0			8	821	-	T	T			Missense_Mutation	212			EF-hand 2.|2 (Potential).			
DGKD	8527	broad.mit.edu	GRCh37	2	234358633	234358633	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01	TCGA-06-0195-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264057.2:c.1894G>A	p.Asp632Asn	p.D632N	ENST00000264057	NM_152879.2	632	Gat/Aat	0			1			A	D/N	uc002vui.1	protein_coding	YES	CCDS2504.1			1894/3645									central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5	c.(1894-1896)GAT>AAT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF30	diacylglycerol kinase, delta 130kDa isoform 2	Phosphatidylserine(DB00144)			ENSP00000264057		16/30	8.24E-06					1.57E-05			rs779772196,COSM3407682	16/30	.		ENST00000264057	Transcript			activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	ENSG00000077044	g.chr2:234358633G>A	2851			MODERATE		2.345	medium	getma.org/?cm=msa&ty=f&p=DGKD_HUMAN&rb=447&re=646&var=D632N	NA	getma.org/?cm=var&var=hg19,2,234358633,G,A&fts=all	D632N	--	--	1																																		DGKD_uc002vuj.1_Missense_Mutation_p.D588N|DGKD_uc010fyh.1_Missense_Mutation_p.D499N|DGKD_uc010fyi.1_RNA	0,1	1		possibly_damaging(0.557)	p.D632N	NM_152879	NP_690618		deleterious(0.01)	0,1	DGKD_HUMAN	DGKD	HGNC	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Q53SV4_HUMAN,Q53SE4_HUMAN		16	1906	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	UPI000013D4AF	632					SNV	DGKD,missense_variant,p.Asp632Asn,ENST00000264057,NM_152879.2;DGKD,missense_variant,p.Asp588Asn,ENST00000409813,NM_003648.2;DGKD,downstream_gene_variant,,ENST00000480535,;DGKD,missense_variant,p.Asp293Asn,ENST00000430834,;DGKD,non_coding_transcript_exon_variant,,ENST00000490764,;DGKD,downstream_gene_variant,,ENST00000465569,;	uc002vui.1	c.1894G>A	1906/6297	2	2			c.1894G>A						2	SNP	c.(1894-1896)GAT>AAT	47	47			central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5	Broad	diacylglycerol kinase, delta 130kDa isoform 2		Phosphatidylserine(DB00144)	234358633		0.642	ENSG00000077044	4389	g.chr2:234358633G>A	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity							29.341392	KEEP	8	7	-1	26	30	8	7	-1	33.592189	26	30	0.220339	1	0	0	0	0	1	0	0	0	--	--		0	A			DGKD_uc002vuj.1_Missense_Mutation_p.D588N|DGKD_uc010fyh.1_Missense_Mutation_p.D499N|DGKD_uc010fyi.1_RNA	45	GBM-06-0195-TP	p.D632N	G	CACAGCTGTCGATGAGCAGAA	NM_152879	NP_690618	234358633	Q16760	DGKD_HUMAN	0		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	16	1906	+	A	A		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	Missense_Mutation	632						
DGKD	8527	broad.mit.edu	GRCh37	2	234368926	234368926	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01	TCGA-06-0744-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264057.2:c.2916G>A	p.Met972Ile	p.M972I	ENST00000264057	NM_152879.2	972	atG/atA	0			1			A	M/I	uc002vui.1	protein_coding	YES	CCDS2504.1			2916/3645									central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5	c.(2914-2916)ATG>ATA			hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF30	diacylglycerol kinase, delta 130kDa isoform 2	Phosphatidylserine(DB00144)			ENSP00000264057		24/30									COSM2151642	24/30	.		ENST00000264057	Transcript			activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	ENSG00000077044	g.chr2:234368926G>A	2851			MODERATE		-1.29	neutral	getma.org/?cm=msa&ty=f&p=DGKD_HUMAN&rb=921&re=1120&var=M972I	NA	getma.org/?cm=var&var=hg19,2,234368926,G,A&fts=all	M972I	--	--	1																																		DGKD_uc002vuj.1_Missense_Mutation_p.M928I|DGKD_uc010fyi.1_RNA	1	1		benign(0)	p.M972I	NM_152879	NP_690618		tolerated(0.49)	1	DGKD_HUMAN	DGKD	HGNC	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Q53SV4_HUMAN,Q53SE4_HUMAN		24	2928	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	UPI000013D4AF	972					SNV	DGKD,missense_variant,p.Met972Ile,ENST00000264057,NM_152879.2;DGKD,missense_variant,p.Met928Ile,ENST00000409813,NM_003648.2;DGKD,3_prime_UTR_variant,,ENST00000430834,;DGKD,downstream_gene_variant,,ENST00000490764,;DGKD,upstream_gene_variant,,ENST00000495901,;DGKD,downstream_gene_variant,,ENST00000471764,;	uc002vui.1	c.2916G>A	2928/6297	2	2			c.2916G>A						2	SNP	c.(2914-2916)ATG>ATA	30	30			central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5	Broad	diacylglycerol kinase, delta 130kDa isoform 2		Phosphatidylserine(DB00144)	234368926		0.617	ENSG00000077044	4389	g.chr2:234368926G>A	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity							116.358302	KEEP	29	21	-1	35	27	29	21	-1	116.927758	35	27	0.418367	1	0	0	0	0	1	0	0	0	--	--		0	A			DGKD_uc002vuj.1_Missense_Mutation_p.M928I|DGKD_uc010fyi.1_RNA	66	GBM-06-0744-TP	p.M972I	G	ACCCGGAGATGCTGTCCGAGG	NM_152879	NP_690618	234368926	Q16760	DGKD_HUMAN	0		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	24	2928	+	A	A		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	Missense_Mutation	972						
DGKD	0	broad.mit.edu	GRCh37	2	234360642	234360642	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs145038453	byFrequency	TCGA-12-1597-01	TCGA-12-1597-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264057.2:c.2200G>A	p.Gly734Ser	p.G734S	ENST00000264057	NM_152879.2	734	Ggt/Agt	0	A:0.0014	A:0.0015	1	A:0.0014		A	G/S	uc002vui.1	protein_coding	YES	CCDS2504.1			2200/3645									central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5	c.(2200-2202)GGT>AGT			hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF30	diacylglycerol kinase, delta 130kDa isoform 2	Phosphatidylserine(DB00144)	A:0	A:0	ENSP00000264057	A:0	18/30	0.00014	0.00125	0.000259	0.000116					rs145038453,COSM3407683	18/30	common_variant		ENST00000264057	Transcript		A:0.0006	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	ENSG00000077044	g.chr2:234360642G>A	2851			MODERATE		2.28	medium	getma.org/?cm=msa&ty=f&p=DGKD_HUMAN&rb=647&re=762&var=G734S	NA	getma.org/?cm=var&var=hg19,2,234360642,G,A&fts=all	G734S	--	--	1																																		DGKD_uc002vuj.1_Missense_Mutation_p.G690S|DGKD_uc010fyh.1_Missense_Mutation_p.G601S|DGKD_uc010fyi.1_RNA	0,1	1		benign(0.048)	p.G734S	NM_152879	NP_690618	A:0	tolerated(0.25)	0,1	DGKD_HUMAN	DGKD	HGNC	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Q53SV4_HUMAN,Q53SE4_HUMAN		18	2212	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	UPI000013D4AF	734					SNV	DGKD,missense_variant,p.Gly734Ser,ENST00000264057,NM_152879.2;DGKD,missense_variant,p.Gly690Ser,ENST00000409813,NM_003648.2;DGKD,downstream_gene_variant,,ENST00000480535,;DGKD,missense_variant,p.Gly395Ser,ENST00000430834,;DGKD,non_coding_transcript_exon_variant,,ENST00000490764,;DGKD,downstream_gene_variant,,ENST00000465569,;	uc002vui.1	c.2200G>A	2212/6297	1	1			c.2200G>A						2	SNP	c.(2200-2202)GGT>AGT	60	60			central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5	Broad	diacylglycerol kinase, delta 130kDa isoform 2		Phosphatidylserine(DB00144)	234360642		0.493	ENSG00000077044	4389	g.chr2:234360642G>A	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity							125.524692	KEEP	20	22	-1	30	32	20	22	-1	126.048376	30	32	0.419355	1	0	0	0	0	1	0	0	0	--	--		0	A			DGKD_uc002vuj.1_Missense_Mutation_p.G690S|DGKD_uc010fyh.1_Missense_Mutation_p.G601S|DGKD_uc010fyi.1_RNA	124	GBM-12-1597-TP	p.G734S	G	TTCCTTACCCGGTGGCTCAGT	NM_152879	NP_690618	234360642	Q16760	DGKD_HUMAN	0		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	18	2212	+	A	A		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	Missense_Mutation	734						
DGKD	8527		GRCh37	2	234363420	234363420	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000264057.2:c.2276C>G	p.Thr759Arg	p.T759R	ENST00000264057	NM_152879.2	759	aCg/aGg	0																																																																																																																																																																																																																																												
DGKE	0	broad.mit.edu	GRCh37	17	54940030	54940030	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-12-5299-01	TCGA-12-5299-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284061.3:c.1582G>T	p.Gly528Trp	p.G528W	ENST00000284061	NM_003647.2	528	Ggg/Tgg	0			1			T	G/W	uc002iur.2	protein_coding	YES	CCDS11590.1			1582/1704									breast(2)	2	c.(1582-1584)GGG>TGG			Superfamily_domains:SSF111331,hmmpanther:PTHR11255:SF39,hmmpanther:PTHR11255	diacylglycerol kinase epsilon				ENSP00000284061		12-Dec									COSM3403038	12-Dec	.		ENST00000284061	Transcript	1		activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	ENSG00000153933	g.chr17:54940030G>T	2852			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=DGKE_HUMAN&rb=525&re=567&var=G528W	NA	getma.org/?cm=var&var=hg19,17,54940030,G,T&fts=all	G528W	--	--	1																																		DGKE_uc002ius.1_3'UTR	1	1		probably_damaging(1)	p.G528W	NM_003647	NP_003638		deleterious(0.01)	1	DGKE_HUMAN	DGKE	HGNC	P52429	DGKE_HUMAN			A1L4Q0_HUMAN		12	1762	+	Breast(9;3.59e-07)		UPI000012DD1F	528					SNV	DGKE,missense_variant,p.Gly528Trp,ENST00000284061,NM_003647.2;DGKE,missense_variant,p.Gly31Trp,ENST00000570738,;DGKE,3_prime_UTR_variant,,ENST00000572944,;	uc002iur.2	c.1582G>T	1762/7768	2	2			c.1582G>T						17	SNP	c.(1582-1584)GGG>TGG	32	32			breast(2)	2	Broad	diacylglycerol kinase epsilon			54940030		0.448	ENSG00000153933	4390	g.chr17:54940030G>T	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding							2.06591	KEEP	2	2	0.5	26	15	2	2	0.5	8.974586	26	15	0.095238	1	0	0	0	0	1	0	0	0	--	--		0	T			DGKE_uc002ius.1_3'UTR	130	GBM-12-5299-TP	p.G528W	G	TTGGGCCCAAGGGCCCTGCAC	NM_003647	NP_003638	54940030	P52429	DGKE_HUMAN	0			12	1762	+	T	T	Breast(9;3.59e-07)		Missense_Mutation	528						
DGKE	0	broad.mit.edu	GRCh37	17	54925329	54925329	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-28-5213-01	TCGA-28-5213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284061.3:c.791G>T	p.Cys264Phe	p.C264F	ENST00000284061	NM_003647.2	264	tGt/tTt	0			1			T	C/F	uc002iur.2	protein_coding	YES	CCDS11590.1			791/1704									breast(2)	2	c.(790-792)TGT>TTT			Superfamily_domains:SSF111331,SMART_domains:SM00046,Pfam_domain:PF00781,hmmpanther:PTHR11255:SF39,hmmpanther:PTHR11255,PROSITE_profiles:PS50146	diacylglycerol kinase epsilon				ENSP00000284061		12-May									COSM3403037	12-May	.		ENST00000284061	Transcript	1		activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	ENSG00000153933	g.chr17:54925329G>T	2852			MODERATE		0.35	neutral	getma.org/?cm=msa&ty=f&p=DGKE_HUMAN&rb=219&re=350&var=C264F	NA	getma.org/?cm=var&var=hg19,17,54925329,G,T&fts=all	C264F	--	--	1																																		DGKE_uc002ius.1_Missense_Mutation_p.C264F	1	1		probably_damaging(1)	p.C264F	NM_003647	NP_003638		deleterious(0)	1	DGKE_HUMAN	DGKE	HGNC	P52429	DGKE_HUMAN			A1L4Q0_HUMAN		5	971	+	Breast(9;3.59e-07)		UPI000012DD1F	264			DAGKc.		SNV	DGKE,missense_variant,p.Cys264Phe,ENST00000284061,NM_003647.2;DGKE,missense_variant,p.Cys208Phe,ENST00000572944,;DGKE,downstream_gene_variant,,ENST00000576869,;DGKE,downstream_gene_variant,,ENST00000571084,;	uc002iur.2	c.791G>T	971/7768	1	1			c.791G>T						17	SNP	c.(790-792)TGT>TTT	14	14			breast(2)	2	Broad	diacylglycerol kinase epsilon			54925329		0.388	ENSG00000153933	4390	g.chr17:54925329G>T	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding							101.520145	KEEP	20	29	0.408163265	107	98	20	29	0.408163265	119.512143	107	98	0.198113	1	0	0	0	0	1	0	0	0	--	--		0	T			DGKE_uc002ius.1_Missense_Mutation_p.C264F	220	GBM-28-5213-TP	p.C264F	G	CTACAACTCTGTACTCTTCTC	NM_003647	NP_003638	54925329	P52429	DGKE_HUMAN	0			5	971	+	T	T	Breast(9;3.59e-07)		Missense_Mutation	264			DAGKc.			
DGKG	1608	broad.mit.edu	GRCh37	3	186015248	186015248	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0877-01	TCGA-06-0877-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265022.3:c.335A>C	p.Asn112Thr	p.N112T	ENST00000265022	NM_001080744.1	112	aAt/aCt	0			1			G	N/T	uc003fqa.2	protein_coding	YES	CCDS3274.1			335/2376									breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	c.(334-336)AAT>ACT			hmmpanther:PTHR11255:SF36,hmmpanther:PTHR11255,Pfam_domain:PF14513	diacylglycerol kinase gamma isoform 1	Phosphatidylserine(DB00144)			ENSP00000265022		25-May									COSM2152157	25-May	.		ENST00000265022	Transcript			activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	ENSG00000058866	g.chr3:186015248T>G	2853			MODERATE		0.755	neutral	getma.org/?cm=msa&ty=f&p=DGKG_HUMAN&rb=1&re=200&var=N112T	getma.org/pdb.php?prot=DGKG_HUMAN&from=1&to=200&var=N112T	getma.org/?cm=var&var=hg19,3,186015248,T,G&fts=all	N112T	--	--	1																																		DGKG_uc003fqb.2_Missense_Mutation_p.N112T|DGKG_uc003fqc.2_Missense_Mutation_p.N112T|DGKG_uc011brx.1_Missense_Mutation_p.N112T	1	1		benign(0.066)	p.N112T	NM_001346	NP_001337		tolerated(0.6)	1	DGKG_HUMAN	DGKG	HGNC	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)			5	872	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		UPI000013D5AB	112					SNV	DGKG,missense_variant,p.Asn112Thr,ENST00000265022,NM_001080744.1,NM_001346.2,NM_001080745.1;DGKG,missense_variant,p.Asn112Thr,ENST00000344484,;DGKG,missense_variant,p.Asn112Thr,ENST00000544847,;DGKG,missense_variant,p.Asn112Thr,ENST00000382164,;DGKG,non_coding_transcript_exon_variant,,ENST00000480809,;	uc003fqa.2	c.335A>C	875/5805	4	4			c.335A>C						3	SNP	c.(334-336)AAT>ACT	17	17			breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Broad	diacylglycerol kinase gamma isoform 1		Phosphatidylserine(DB00144)	186015248		0.458	ENSG00000058866	4391	g.chr3:186015248T>G	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			546			546	137.086464	KEEP	36	29	-1	88	93	36	29	-1	148.020357	88	93	0.244565	1	0	0	0	0	1	0	0	0	--	--		0	G			DGKG_uc003fqb.2_Missense_Mutation_p.N112T|DGKG_uc003fqc.2_Missense_Mutation_p.N112T|DGKG_uc011brx.1_Missense_Mutation_p.N112T	73	GBM-06-0877-TP	p.N112T	T	TTTGGTGGCATTATCTGCATT	NM_001346	NP_001337	186015248	P49619	DGKG_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	5	872	-	G	G	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		Missense_Mutation	112						
DGKG	1608		GRCh37	3	185975697	185975697	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000265022.3:c.1456C>T	p.Arg486Cys	p.R486C	ENST00000265022	NM_001080744.1	486	Cgt/Tgt	0																																																																																																																																																																																																																																												
DGKH	160851		GRCh37	13	42761271	42761271	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000337343.4:c.1625C>T	p.Ala542Val	p.A542V	ENST00000337343	NM_178009.3	542	gCc/gTc	0																																																																																																																																																																																																																																												
DGKI	0	broad.mit.edu	GRCh37	7	137263039	137263039	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-14-1823-01	TCGA-14-1823-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288490.5:c.1675C>T	p.Arg559Ter	p.R559*	ENST00000288490	NM_004717.2	559	Cga/Tga	0			1			A	R/*	uc003vtt.2	protein_coding	YES	CCDS5845.1			1675/3198									ovary(1)|kidney(1)|skin(1)	3	c.(1675-1677)CGA>TGA			Pfam_domain:PF00609,hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF41,SMART_domains:SM00045,Superfamily_domains:SSF111331	diacylglycerol kinase, iota				ENSP00000288490		16/34									COSM452412,COSM1134275,COSM3411619	16/34	.		ENST00000288490	Transcript			activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	ENSG00000157680	g.chr7:137263039G>A	2855			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,137263039,G,A&fts=all	R559*	--	--	1																																		DGKI_uc003vtu.2_Nonsense_Mutation_p.R259*	1,1,1	1			p.R559*	NM_004717	NP_004708			1,1,1	DGKI_HUMAN	DGKI	HGNC	O75912	DGKI_HUMAN			B3KR69_HUMAN		16	1676	-			UPI000012DD23	559					SNV	DGKI,stop_gained,p.Arg259Ter,ENST00000453654,;DGKI,stop_gained,p.Arg559Ter,ENST00000424189,;DGKI,stop_gained,p.Arg559Ter,ENST00000446122,;DGKI,stop_gained,p.Arg559Ter,ENST00000288490,NM_004717.2;DGKI,non_coding_transcript_exon_variant,,ENST00000460662,;	uc003vtt.2	c.1675C>T	1676/3895	5	2			c.1675C>T						7	SNP	c.(1675-1677)CGA>TGA	21	21			ovary(1)|kidney(1)|skin(1)	3	Broad	diacylglycerol kinase, iota			137263039		0.338	ENSG00000157680	4393	g.chr7:137263039G>A	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding							28.195844	KEEP	12	5	-1	57	23	12	5	-1	37.489647	57	23	0.162791	1	0	0	0	0	0	1	0	0	--	--		0	A			DGKI_uc003vtu.2_Nonsense_Mutation_p.R259*	147	GBM-14-1823-TP	p.R559*	G	ATTTTATTTCGAAAACGACTG	NM_004717	NP_004708	137263039	O75912	DGKI_HUMAN	0			16	1676	-	A	A			Nonsense_Mutation	559						
DGKI	0	broad.mit.edu	GRCh37	7	137363356	137363356	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01	TCGA-19-2623-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288490.5:c.553G>A	p.Val185Ile	p.V185I	ENST00000288490	NM_004717.2	185	Gtc/Atc	0			1			T	V/I	uc003vtt.2	protein_coding	YES	CCDS5845.1			553/3198									ovary(1)|kidney(1)|skin(1)	3	c.(553-555)GTC>ATC			Gene3D:3.30.60.20,hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF41,SMART_domains:SM00109	diacylglycerol kinase, iota				ENSP00000288490		Mar-34	8.24E-06					1.50E-05			rs779164061,COSM3411620,COSM3411621,COSM3411622	Mar-34	.		ENST00000288490	Transcript			activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	ENSG00000157680	g.chr7:137363356C>T	2855			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=DGKI_HUMAN&rb=1&re=200&var=V185I	NA	getma.org/?cm=var&var=hg19,7,137363356,C,T&fts=all	V185I	--	--	1																																		DGKI_uc003vtu.2_5'UTR	0,1,1,1	1		benign(0.012)	p.V185I	NM_004717	NP_004708		deleterious(0.05)	0,1,1,1	DGKI_HUMAN	DGKI	HGNC	O75912	DGKI_HUMAN			B3KR69_HUMAN		3	554	-			UPI000012DD23	185			Phorbol-ester/DAG-type 1.		SNV	DGKI,missense_variant,p.Val185Ile,ENST00000424189,;DGKI,missense_variant,p.Val185Ile,ENST00000446122,;DGKI,missense_variant,p.Val185Ile,ENST00000288490,NM_004717.2;DGKI,5_prime_UTR_variant,,ENST00000453654,;DGKI,non_coding_transcript_exon_variant,,ENST00000470895,;DGKI,non_coding_transcript_exon_variant,,ENST00000483619,;	uc003vtt.2	c.553G>A	554/3895	1	1			c.553G>A						7	SNP	c.(553-555)GTC>ATC	12	12			ovary(1)|kidney(1)|skin(1)	3	Broad	diacylglycerol kinase, iota			137363356		0.507	ENSG00000157680	4393	g.chr7:137363356C>T	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding							147.565548	KEEP	39	43	-1	112	137	39	43	-1	161.81476	112	137	0.252918	1	0	0	0	0	1	0	0	0	--	--		0	T			DGKI_uc003vtu.2_5'UTR	163	GBM-19-2623-TP	p.V185I	C	TCTCCCGAGACGTTGGTCTCC	NM_004717	NP_004708	137363356	O75912	DGKI_HUMAN	0			3	554	-	T	T			Missense_Mutation	185			Phorbol-ester/DAG-type 1.			
DGKK	139189	broad.mit.edu	GRCh37	X	50114831	50114831	+	splice_region_variant,non_coding_transcript_exon_variant	Splice_Region	SNP	C	C	T			TCGA-06-0195-01	TCGA-06-0195-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376025.2:n.3563G>A		p.X1188_splice	ENST00000376025		1188		0			1			T		uc010njr.1	processed_transcript	YES													ovary(1)|kidney(1)	2	c.(3502-3504)CTG>CTA				diacylglycerol kinase kappa						26/28									COSM3406452	26/28	.		ENST00000376025	Transcript			activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	ENSG00000204466	g.chrX:50114831C>T	32395			LOW								--	--	1																																			1	1			p.L1168L	NM_001013742	NP_001013764			1		DGKK	HGNC	Q5KSL6	DGKK_HUMAN					27	3564	-	Ovarian(276;0.236)			1168					SNV	DGKK,splice_region_variant,,ENST00000376025,;DGKK,splice_region_variant,,ENST00000546288,;	uc010njr.1	c.3504G>A	3563/7406	2	2			c.3504G>A						23	SNP	c.(3502-3504)CTG>CTA	22	22			ovary(1)|kidney(1)	2	Broad	diacylglycerol kinase kappa			50114831		0.468	ENSG00000204466	4394	g.chrX:50114831C>T	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding							54.986334	KEEP	10	8	-1	2	2	10	8	-1	57.334196	2	2	0.85	1	0	0	0	0	0	0	1	0	--	--		0	T				45	GBM-06-0195-TP	p.L1168L	C	CAGCACTTCTCAGCTGGTACA	NM_001013742	NP_001013764	50114831	Q5KSL6	DGKK_HUMAN	0			27	3564	-	T	T	Ovarian(276;0.236)		Silent	1168						
DGKK	139189	broad.mit.edu	GRCh37	X	50134485	50134485	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	C			TCGA-06-2558-01	TCGA-06-2558-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376025.2:n.1854T>G		p.*618*	ENST00000376025				0			1			C		uc010njr.1	processed_transcript	YES													ovary(1)|kidney(1)	2	c.(1792-1794)CCT>CCG				diacylglycerol kinase kappa						28-Nov									COSM3406453	28-Nov	.		ENST00000376025	Transcript			activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	ENSG00000204466	g.chrX:50134485A>C	32395			MODIFIER								--	--	1																																			1	1			p.P598P	NM_001013742	NP_001013764			1		DGKK	HGNC	Q5KSL6	DGKK_HUMAN					11	1854	-	Ovarian(276;0.236)			598			DAGKc.		SNV	DGKK,non_coding_transcript_exon_variant,,ENST00000376025,;DGKK,non_coding_transcript_exon_variant,,ENST00000546288,;	uc010njr.1	c.1794T>G	1854/7406	3	3			c.1794T>G						23	SNP	c.(1792-1794)CCT>CCG	11	11			ovary(1)|kidney(1)	2	Broad	diacylglycerol kinase kappa			50134485		0.537	ENSG00000204466	4394	g.chrX:50134485A>C	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding							332.072578	KEEP	71	71	-1	111	126	71	71	-1	337.948006	111	126	0.356923	1	0	0	0	0	0	0	1	0	--	--		0	C				82	GBM-06-2558-TP	p.P598P	A	GGATGTCCAGAGGTGACTTGC	NM_001013742	NP_001013764	50134485	Q5KSL6	DGKK_HUMAN	0			11	1854	-	C	C	Ovarian(276;0.236)		Silent	598			DAGKc.			
DGKK	0	broad.mit.edu	GRCh37	X	50146548	50146548	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A			TCGA-12-1597-01	TCGA-12-1597-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376025.2:n.1186G>T		*396*	ENST00000376025				0			1			A		uc010njr.1	processed_transcript	YES													ovary(1)|kidney(1)	2	c.(1126-1128)GAC>TAC				diacylglycerol kinase kappa						28-Jun									COSM3406454	28-Jun	.		ENST00000376025	Transcript			activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	ENSG00000204466	g.chrX:50146548C>A	32395			MODIFIER								--	--	1																																			1	1			p.D376Y	NM_001013742	NP_001013764			1		DGKK	HGNC	Q5KSL6	DGKK_HUMAN					6	1186	-	Ovarian(276;0.236)			376			Phorbol-ester/DAG-type 1.		SNV	DGKK,non_coding_transcript_exon_variant,,ENST00000376025,;DGKK,non_coding_transcript_exon_variant,,ENST00000546288,;	uc010njr.1	c.1126G>T	1186/7406	2	2			c.1126G>T						23	SNP	c.(1126-1128)GAC>TAC	29	29			ovary(1)|kidney(1)	2	Broad	diacylglycerol kinase kappa			50146548		0.458	ENSG00000204466	4394	g.chrX:50146548C>A	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding							4.051902	KEEP	9	4	0.307692308	71	77	9	4	0.307692308	29.228892	71	77	0.088435	1	0	0	0	0	1	0	0	0	--	--		0	A				124	GBM-12-1597-TP	p.D376Y	C	CACTTGCAGTCTTTGCTTGCT	NM_001013742	NP_001013764	50146548	Q5KSL6	DGKK_HUMAN	0			6	1186	-	A	A	Ovarian(276;0.236)		Missense_Mutation	376			Phorbol-ester/DAG-type 1.			
DGKQ	1609	broad.mit.edu	GRCh37	4	956607	956607	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273814.3:c.1988G>A	p.Arg663Gln	p.R663Q	ENST00000273814	NM_001347.3	663	cGa/cAa	0			1			T	R/Q	uc003gbw.2	protein_coding	YES	CCDS3342.1			1988/2829									kidney(1)	1	c.(1987-1989)CGA>CAA			PROSITE_profiles:PS50146,hmmpanther:PTHR11255:SF8,hmmpanther:PTHR11255,Pfam_domain:PF00781,SMART_domains:SM00046,Superfamily_domains:SSF111331	diacylglycerol kinase, theta				ENSP00000273814		17/23	1.66E-05	0.000311							rs752503518,COSM3409627	17/23	.		ENST00000273814	Transcript			activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	ENSG00000145214	g.chr4:956607C>T	2856			MODERATE		-0.805	neutral	getma.org/?cm=msa&ty=f&p=DGKQ_HUMAN&rb=588&re=715&var=R663Q	NA	getma.org/?cm=var&var=hg19,4,956607,C,T&fts=all	R663Q	--	--	1																																		DGKQ_uc010ibn.2_Missense_Mutation_p.R650Q	0,1	1		benign(0.028)	p.R663Q	NM_001347	NP_001338		tolerated(0.2)	0,1	DGKQ_HUMAN	DGKQ	HGNC	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)				17	2062	-			UPI00001AE9B4	663			DAGKc.		SNV	DGKQ,missense_variant,p.Arg663Gln,ENST00000273814,NM_001347.3;DGKQ,missense_variant,p.Arg597Gln,ENST00000509465,;TMEM175,downstream_gene_variant,,ENST00000264771,NM_032326.2;TMEM175,downstream_gene_variant,,ENST00000515740,;TMEM175,downstream_gene_variant,,ENST00000508204,;TMEM175,downstream_gene_variant,,ENST00000510493,;TMEM175,downstream_gene_variant,,ENST00000515492,;DGKQ,upstream_gene_variant,,ENST00000515182,;DGKQ,downstream_gene_variant,,ENST00000502309,;TMEM175,downstream_gene_variant,,ENST00000438836,;TMEM175,downstream_gene_variant,,ENST00000513952,;	uc003gbw.2	c.1988G>A	2062/4636	2	2			c.1988G>A						4	SNP	c.(1987-1989)CGA>CAA	42	42			kidney(1)	1	Broad	diacylglycerol kinase, theta			956607		0.687	ENSG00000145214	4395	g.chr4:956607C>T	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	Esophageal Squamous(17;537 645 4447 26373)			Esophageal Squamous(17;537 645 4447 26373)			7.418157	KEEP	1	2	-1	7	5	1	2	-1	8.281722	7	5	0.230769	1	0	0	0	0	1	0	0	0	--	--		0	T			DGKQ_uc010ibn.2_Missense_Mutation_p.R650Q	65	GBM-06-0743-TP	p.R663Q	C	GCAGGCCAGTCGGTACCGTGT	NM_001347	NP_001338	956607	P52824	DGKQ_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		17	2062	-	T	T			Missense_Mutation	663			DAGKc.			
DGKQ	0	broad.mit.edu	GRCh37	4	956666	956666	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-26-5139-01	TCGA-26-5139-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273814.3:c.1929G>T	p.Val643=	p.V643=	ENST00000273814	NM_001347.3	643	gtG/gtT	0			1			A	V	uc003gbw.2	protein_coding	YES	CCDS3342.1			1929/2829									kidney(1)	1	c.(1927-1929)GTG>GTT			PROSITE_profiles:PS50146,hmmpanther:PTHR11255:SF8,hmmpanther:PTHR11255,Pfam_domain:PF00781,SMART_domains:SM00046,Superfamily_domains:SSF111331	diacylglycerol kinase, theta				ENSP00000273814		17/23									COSM3409628	17/23	.		ENST00000273814	Transcript			activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	ENSG00000145214	g.chr4:956666C>A	2856			LOW								--	--	1																																		DGKQ_uc010ibn.2_Silent_p.V630V	1	1			p.V643V	NM_001347	NP_001338			1	DGKQ_HUMAN	DGKQ	HGNC	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)				17	2003	-			UPI00001AE9B4	643			DAGKc.		SNV	DGKQ,synonymous_variant,p.=,ENST00000273814,NM_001347.3;DGKQ,synonymous_variant,p.=,ENST00000509465,;TMEM175,downstream_gene_variant,,ENST00000264771,NM_032326.2;TMEM175,downstream_gene_variant,,ENST00000515740,;TMEM175,downstream_gene_variant,,ENST00000508204,;TMEM175,downstream_gene_variant,,ENST00000510493,;DGKQ,upstream_gene_variant,,ENST00000515182,;DGKQ,downstream_gene_variant,,ENST00000502309,;TMEM175,downstream_gene_variant,,ENST00000438836,;TMEM175,downstream_gene_variant,,ENST00000513952,;	uc003gbw.2	c.1929G>T	2003/4636	2	2			c.1929G>T						4	SNP	c.(1927-1929)GTG>GTT	28	28			kidney(1)	1	Broad	diacylglycerol kinase, theta			956666		0.682	ENSG00000145214	4395	g.chr4:956666C>A	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	Esophageal Squamous(17;537 645 4447 26373)			Esophageal Squamous(17;537 645 4447 26373)			4.407821	KEEP	2	1	0.333333333	9	16	2	1	0.333333333	7.464862	9	16	0.130435	1	0	0	0	0	0	0	1	0	--	--		0	A			DGKQ_uc010ibn.2_Silent_p.V630V	186	GBM-26-5139-TP	p.V643V	C	CGCCACCACACACCAGCACCC	NM_001347	NP_001338	956666	P52824	DGKQ_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		17	2003	-	A	A			Silent	643			DAGKc.			
DGKZ	0	broad.mit.edu	GRCh37	11	46393049	46393049	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2523-01	TCGA-27-2523-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000454345.1:c.1219G>A	p.Val407Met	p.V407M	ENST00000454345	NM_001105540.1	407	Gtg/Atg	0			1			A	V/M	uc001ncn.1	protein_coding	YES	CCDS41640.1			1219/3354									pancreas(1)|central_nervous_system(1)|skin(1)	3	c.(1219-1221)GTG>ATG			hmmpanther:PTHR11255:SF43,hmmpanther:PTHR11255,Pfam_domain:PF00130,SMART_domains:SM00109	diacylglycerol kinase zeta isoform 4				ENSP00000412178		Sep-32									COSM3397700,COSM3397702,COSM3397701,COSM3397699	Sep-32	.		ENST00000454345	Transcript			activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	ENSG00000149091	g.chr11:46393049G>A	2857			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=DGKZ_HUMAN&rb=361&re=420&var=V407M	NA	getma.org/?cm=var&var=hg19,11,46393049,G,A&fts=all	V407M	--	--	1																																		DGKZ_uc001nch.1_Missense_Mutation_p.V235M|DGKZ_uc010rgq.1_Missense_Mutation_p.V162M|DGKZ_uc001ncj.1_Missense_Mutation_p.V185M|DGKZ_uc010rgr.1_Missense_Mutation_p.V184M|DGKZ_uc001nck.1_Translation_Start_Site|DGKZ_uc001ncl.2_Missense_Mutation_p.V219M|DGKZ_uc001ncm.2_Missense_Mutation_p.V218M|DGKZ_uc009yky.1_Missense_Mutation_p.V219M|DGKZ_uc010rgs.1_Missense_Mutation_p.V196M	1,1,1,1	1		possibly_damaging(0.859)	p.V407M	NM_001105540	NP_001099010		deleterious(0.04)	1,1,1,1	DGKZ_HUMAN	DGKZ	HGNC	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	Q7Z5X8_HUMAN,E9PNL8_HUMAN		9	1344	+			UPI000013DB71	407			Phorbol-ester/DAG-type 2.		SNV	DGKZ,missense_variant,p.Val407Met,ENST00000454345,NM_001105540.1;DGKZ,missense_variant,p.Val235Met,ENST00000343674,NM_201532.2;DGKZ,missense_variant,p.Val218Met,ENST00000456247,NM_003646.3,NM_001199267.1;DGKZ,missense_variant,p.Val185Met,ENST00000395574,NM_201533.3;DGKZ,missense_variant,p.Val219Met,ENST00000527911,NM_001199266.1;DGKZ,missense_variant,p.Val196Met,ENST00000318201,NM_001199268.1;DGKZ,missense_variant,p.Val223Met,ENST00000532868,;DGKZ,missense_variant,p.Val219Met,ENST00000421244,;DGKZ,5_prime_UTR_variant,,ENST00000528615,;DGKZ,intron_variant,,ENST00000543978,;DGKZ,upstream_gene_variant,,ENST00000524869,;DGKZ,downstream_gene_variant,,ENST00000525242,;DGKZ,downstream_gene_variant,,ENST00000524448,;MIR4688,upstream_gene_variant,,ENST00000577966,;DGKZ,downstream_gene_variant,,ENST00000525434,;DGKZ,downstream_gene_variant,,ENST00000534215,;DGKZ,3_prime_UTR_variant,,ENST00000524984,;DGKZ,non_coding_transcript_exon_variant,,ENST00000528173,;DGKZ,non_coding_transcript_exon_variant,,ENST00000531879,;DGKZ,downstream_gene_variant,,ENST00000527674,;DGKZ,upstream_gene_variant,,ENST00000529698,;DGKZ,upstream_gene_variant,,ENST00000527903,;DGKZ,downstream_gene_variant,,ENST00000533376,;	uc001ncn.1	c.1219G>A	1344/4086	1	1			c.1219G>A						11	SNP	c.(1219-1221)GTG>ATG	63	63			pancreas(1)|central_nervous_system(1)|skin(1)	3	Broad	diacylglycerol kinase zeta isoform 4			46393049		0.701	ENSG00000149091	4396	g.chr11:46393049G>A	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding							69.459605	KEEP	15	14	-1	25	21	15	14	-1	70.310063	25	21	0.378788	1	0	0	0	0	1	0	0	0	--	--		0	A			DGKZ_uc001nch.1_Missense_Mutation_p.V235M|DGKZ_uc010rgq.1_Missense_Mutation_p.V162M|DGKZ_uc001ncj.1_Missense_Mutation_p.V185M|DGKZ_uc010rgr.1_Missense_Mutation_p.V184M|DGKZ_uc001nck.1_Translation_Start_Site|DGKZ_uc001ncl.2_Missense_Mutation_p.V219M|DGKZ_uc001ncm.2_Missense_Mutation_p.V218M|DGKZ_uc009yky.1_Missense_Mutation_p.V219M|DGKZ_uc010rgs.1_Missense_Mutation_p.V196M	201	GBM-27-2523-TP	p.V407M	G	CCACAGCAAGGTGTCCTGCTT	NM_001105540	NP_001099010	46393049	Q13574	DGKZ_HUMAN	0		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	9	1344	+	A	A			Missense_Mutation	407			Phorbol-ester/DAG-type 2.			
DHCR7	1717		GRCh37	11	71146770	71146770	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000355527.3:c.1079T>A	p.Leu360Gln	p.L360Q	ENST00000355527	NM_001360.2	360	cTg/cAg	0																																																																																																																																																																																																																																												
DHH	0	broad.mit.edu	GRCh37	12	49483743	49483743	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01	TCGA-14-0813-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266991.2:c.1090C>T	p.His364Tyr	p.H364Y	ENST00000266991	NM_021044.2	364	Cac/Tac	0			1			A	H/Y	uc001rtf.2	protein_coding	YES	CCDS8779.1			1090/1191									lung(1)|breast(1)	2	c.(1090-1092)CAC>TAC			Pfam_domain:PF01079,PIRSF_domain:PIRSF009400,hmmpanther:PTHR11889,hmmpanther:PTHR11889:SF15,Low_complexity_(Seg):seg	desert hedgehog preproprotein				ENSP00000266991		3-Mar									COSM3398778	3-Mar	.		ENST00000266991	Transcript	1		cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding	ENSG00000139549	g.chr12:49483743G>A	2865			MODERATE		0.905	low	getma.org/?cm=msa&ty=f&p=DHH_HUMAN&rb=188&re=396&var=H364Y	NA	getma.org/?cm=var&var=hg19,12,49483743,G,A&fts=all	H364Y	--	--	1																																			1	1		benign(0.02)	p.H364Y	NM_021044	NP_066382		tolerated(0.5)	1	DHH_HUMAN	DHH	HGNC	O43323	DHH_HUMAN			F6KSZ4_HUMAN		3	1397	-			UPI0000035884	364					SNV	DHH,missense_variant,p.His364Tyr,ENST00000266991,NM_021044.2;RP11-386G11.8,upstream_gene_variant,,ENST00000553174,;RP11-386G11.8,upstream_gene_variant,,ENST00000548030,;	uc001rtf.2	c.1090C>T	1397/1936	2	2			c.1090C>T						12	SNP	c.(1090-1092)CAC>TAC	22	22			lung(1)|breast(1)	2	Broad	desert hedgehog preproprotein			49483743		0.667	ENSG00000139549	4405	g.chr12:49483743G>A	cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding							20.122502	KEEP	2	5	-1	3	6	2	5	-1	20.137115	3	6	0.466667	1	0	0	0	0	1	0	0	0	--	--		0	A				138	GBM-14-0813-TP	p.H364Y	G	CCTAGCGCGTGCAGCAGTCTC	NM_021044	NP_066382	49483743	O43323	DHH_HUMAN	0			3	1397	-	A	A			Missense_Mutation	364						
DHRS11	0	broad.mit.edu	GRCh37	17	34951507	34951507	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs148449399		TCGA-32-2634-01	TCGA-32-2634-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251312.5:c.254G>A	p.Arg85His	p.R85H	ENST00000251312	NM_024308.3	85	cGt/cAt	0	A:0		1			A	R/H	uc002hnd.2	protein_coding	YES	CCDS11315.2			254/783										0	c.(253-255)CGT>CAT			Gene3D:3.40.50.720,Pfam_domain:PF00106,hmmpanther:PTHR24322,hmmpanther:PTHR24322:SF310,Superfamily_domains:SSF51735	short-chain dehydrogenase/reductase precursor			A:0.0001	ENSP00000251312		7-Feb	4.12E-05					7.49E-05			rs148449399,COSM3402802	7-Feb	.		ENST00000251312	Transcript				extracellular region	binding|oxidoreductase activity	ENSG00000108272	g.chr17:34951507G>A	28639			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=DHR11_HUMAN&rb=12&re=185&var=R85H	getma.org/pdb.php?prot=DHR11_HUMAN&from=12&to=185&var=R85H	getma.org/?cm=var&var=hg19,17,34951507,G,A&fts=all	R85H	--	--	1																																			0,1	1		benign(0.015)	p.R85H	NM_024308	NP_077284		deleterious(0.01)	0,1	DHR11_HUMAN	DHRS11	HGNC	Q6UWP2	DHR11_HUMAN			K7EK68_HUMAN		2	468	+			UPI0000038A01	85					SNV	DHRS11,missense_variant,p.Arg85His,ENST00000251312,NM_024308.3;DHRS11,missense_variant,p.Arg6His,ENST00000590554,;DHRS11,missense_variant,p.Arg6His,ENST00000491046,;DHRS11,upstream_gene_variant,,ENST00000585376,;DHRS11,non_coding_transcript_exon_variant,,ENST00000394445,;DHRS11,3_prime_UTR_variant,,ENST00000590527,;DHRS11,upstream_gene_variant,,ENST00000593204,;DHRS11,upstream_gene_variant,,ENST00000586848,;	uc002hnd.2	c.254G>A	466/1598	2	2			c.254G>A						17	SNP	c.(253-255)CGT>CAT	44	44				0	Broad	short-chain dehydrogenase/reductase precursor			34951507		0.537	ENSG00000108272	4409	g.chr17:34951507G>A		extracellular region	binding|oxidoreductase activity							464.577222	KEEP	68	85	-1	14	7	68	85	-1	485.81009	14	7	0.875817	1	0	0	0	0	1	0	0	0	--	--		0	A				241	GBM-32-2634-TP	p.R85H	G	TCAGCTATCCGTTCTCAGCAC	NM_024308	NP_077284	34951507	Q6UWP2	DHR11_HUMAN	0			2	468	+	A	A			Missense_Mutation	85						
DHRS13	0	broad.mit.edu	GRCh37	17	27228288	27228288	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-1970-01	TCGA-32-1970-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378895.4:c.402G>A	p.Ala134=	p.A134=	ENST00000378895	NM_144683.3	134	gcG/gcA	0		T:0.0008	1	T:0		T	A	uc002hde.3	protein_coding	YES	CCDS11246.2			402/1134										0	c.(400-402)GCG>GCA			hmmpanther:PTHR24320:SF53,hmmpanther:PTHR24320,Pfam_domain:PF00106,Gene3D:3.40.50.720,Superfamily_domains:SSF51735	dehydrogenase/reductase (SDR family) member 13		T:0		ENSP00000368173	T:0	5-Apr	2.47E-05	9.68E-05						0.000134	rs549688711,COSM3402696	5-Apr	.		ENST00000378895	Transcript		T:0.0004		extracellular region	binding|oxidoreductase activity	ENSG00000167536	g.chr17:27228288C>T	28326			LOW								--	--	1																																		DHRS13_uc002hdd.3_Silent_p.A84A|DHRS13_uc010wba.1_Silent_p.A53A	0,1	1			p.A134A	NM_144683	NP_653284	T:0.001		0,1	DHR13_HUMAN	DHRS13	HGNC	Q6UX07	DHR13_HUMAN	Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)				4	529	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		UPI00001D6289	134					SNV	DHRS13,synonymous_variant,p.=,ENST00000394901,;DHRS13,synonymous_variant,p.=,ENST00000378895,NM_144683.3;DHRS13,synonymous_variant,p.=,ENST00000426464,;PHF12,downstream_gene_variant,,ENST00000577226,;PHF12,downstream_gene_variant,,ENST00000332830,NM_001033561.1;FLOT2,upstream_gene_variant,,ENST00000394906,;FLOT2,upstream_gene_variant,,ENST00000394908,NM_004475.2;FLOT2,upstream_gene_variant,,ENST00000585169,;RP11-20B24.4,downstream_gene_variant,,ENST00000579187,;RP11-20B24.4,downstream_gene_variant,,ENST00000580603,;FLOT2,upstream_gene_variant,,ENST00000577789,;DHRS13,upstream_gene_variant,,ENST00000581974,;DHRS13,non_coding_transcript_exon_variant,,ENST00000581759,;FLOT2,upstream_gene_variant,,ENST00000580805,;FLOT2,upstream_gene_variant,,ENST00000586827,;PHF12,downstream_gene_variant,,ENST00000589176,;FLOT2,upstream_gene_variant,,ENST00000593158,;FLOT2,upstream_gene_variant,,ENST00000582174,;	uc002hde.3	c.402G>A	529/1921	1	1			c.402G>A						17	SNP	c.(400-402)GCG>GCA	15	15				0	Broad	dehydrogenase/reductase (SDR family) member 13			27228288		0.592	ENSG00000167536	4411	g.chr17:27228288C>T		extracellular region	binding|oxidoreductase activity							86.331647	KEEP	21	15	-1	35	29	21	15	-1	87.642877	35	29	0.370787	1	0	0	0	0	0	0	1	0	--	--		0	T			DHRS13_uc002hdd.3_Silent_p.A84A|DHRS13_uc010wba.1_Silent_p.A53A	228	GBM-32-1970-TP	p.A134A	C	GCAGGTTAAACGCCTCACGGG	NM_144683	NP_653284	27228288	Q6UX07	DHR13_HUMAN	0	Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		4	529	-	T	T	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Silent	134						
DHRS2	10202	broad.mit.edu	GRCh37	14	24109023	24109023	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2559-01	TCGA-06-2559-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344777.7:c.339C>T	p.Gly113=	p.G113=	ENST00000344777	NM_182908.4	113	ggC/ggT	0			1			T	G	uc001wkt.3	protein_coding		CCDS9604.1			339/843									large_intestine(1)|ovary(1)	2	c.(337-339)GGC>GGT			Gene3D:3.40.50.720,Pfam_domain:PF13561,Prints_domain:PR00080,Prints_domain:PR00081,hmmpanther:PTHR24322,hmmpanther:PTHR24322:SF322,Superfamily_domains:SSF51735	dehydrogenase/reductase member 2 isoform 1				ENSP00000250383		9-Apr									COSM2152666,COSM2152665	9-Apr	.		ENST00000250383	Transcript			C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity	ENSG00000100867	g.chr14:24109023C>T	18349			LOW								--	--	1																																		DHRS2_uc010aku.1_Silent_p.G113G|DHRS2_uc001wku.3_Silent_p.G113G|DHRS2_uc010akv.2_RNA|DHRS2_uc001wkv.3_Silent_p.G113G	1,1				p.G113G	NM_182908	NP_878912			1,1	DHRS2_HUMAN	DHRS2	HGNC	Q13268	DHRS2_HUMAN		GBM - Glioblastoma multiforme(265;0.00659)	C9JZP6_HUMAN		4	786	+			UPI000004C787	91					SNV	DHRS2,synonymous_variant,p.=,ENST00000250383,NM_005794.3;DHRS2,synonymous_variant,p.=,ENST00000344777,NM_182908.4;DHRS2,synonymous_variant,p.=,ENST00000557535,;DHRS2,synonymous_variant,p.=,ENST00000553600,;DHRS2,synonymous_variant,p.=,ENST00000432832,;DHRS2,non_coding_transcript_exon_variant,,ENST00000553896,;DHRS2,non_coding_transcript_exon_variant,,ENST00000556729,;DHRS2,non_coding_transcript_exon_variant,,ENST00000556701,;DHRS2,upstream_gene_variant,,ENST00000556550,;	uc001wkt.3	c.339C>T	815/1705	2	2			c.339C>T						14	SNP	c.(337-339)GGC>GGT	33	33			large_intestine(1)|ovary(1)	2	Broad	dehydrogenase/reductase member 2 isoform 1			24109023		0.637	ENSG00000100867	4412	g.chr14:24109023C>T	C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity							98.153175	KEEP	22	19	-1	30	32	22	19	-1	98.766338	30	32	0.409091	1	0	0	0	0	0	0	1	0	--	--		0	T			DHRS2_uc010aku.1_Silent_p.G113G|DHRS2_uc001wku.3_Silent_p.G113G|DHRS2_uc010akv.2_RNA|DHRS2_uc001wkv.3_Silent_p.G113G	83	GBM-06-2559-TP	p.G113G	C	ACTGTGGGGGCGTCGACTTCC	NM_182908	NP_878912	24109023	Q13268	DHRS2_HUMAN	0		GBM - Glioblastoma multiforme(265;0.00659)	4	786	+	T	T			Silent	91						
DHRS2	10202	broad.mit.edu	GRCh37	14	24108199	24108199	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5859-01	TCGA-06-5859-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344777.7:c.126G>A	p.Thr42=	p.T42=	ENST00000344777	NM_182908.4	42	acG/acA	0	A:0		1			A	T	uc001wkt.3	protein_coding		CCDS9604.1			126/843									large_intestine(1)|ovary(1)	2	c.(124-126)ACG>ACA			Gene3D:3.40.50.720,Prints_domain:PR00081,hmmpanther:PTHR24322,hmmpanther:PTHR24322:SF322,Superfamily_domains:SSF51735	dehydrogenase/reductase member 2 isoform 1			A:0.0001	ENSP00000250383		9-Feb	7.41E-05					0.000135			rs372558157,COSM3401248,COSM3401247	9-Feb	.		ENST00000250383	Transcript			C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity	ENSG00000100867	g.chr14:24108199G>A	18349			LOW								--	--	1																																		DHRS2_uc010aku.1_Silent_p.T42T|DHRS2_uc001wku.3_Silent_p.T42T|DHRS2_uc010akv.2_RNA|DHRS2_uc001wkv.3_Silent_p.T42T	0,1,1				p.T42T	NM_182908	NP_878912			0,1,1	DHRS2_HUMAN	DHRS2	HGNC	Q13268	DHRS2_HUMAN		GBM - Glioblastoma multiforme(265;0.00659)	C9JZP6_HUMAN		2	573	+			UPI000004C787	20			NAD or NADP (By similarity).		SNV	DHRS2,synonymous_variant,p.=,ENST00000250383,NM_005794.3;DHRS2,synonymous_variant,p.=,ENST00000344777,NM_182908.4;DHRS2,synonymous_variant,p.=,ENST00000432832,;DHRS2,upstream_gene_variant,,ENST00000557535,;DHRS2,upstream_gene_variant,,ENST00000553600,;DHRS2,non_coding_transcript_exon_variant,,ENST00000553896,;DHRS2,non_coding_transcript_exon_variant,,ENST00000556729,;DHRS2,non_coding_transcript_exon_variant,,ENST00000556701,;DHRS2,upstream_gene_variant,,ENST00000556550,;	uc001wkt.3	c.126G>A	602/1705	2	2			c.126G>A						14	SNP	c.(124-126)ACG>ACA	33	33			large_intestine(1)|ovary(1)	2	Broad	dehydrogenase/reductase member 2 isoform 1			24108199		0.597	ENSG00000100867	4412	g.chr14:24108199G>A	C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity							-11.338226	KEEP	4	0	-1	44	41	4	0	-1	6.612031	44	41	0.038462	1	0	0	0	0	0	0	1	0	--	--		0	A			DHRS2_uc010aku.1_Silent_p.T42T|DHRS2_uc001wku.3_Silent_p.T42T|DHRS2_uc010akv.2_RNA|DHRS2_uc001wkv.3_Silent_p.T42T	103	GBM-06-5859-TP	p.T42T	G	CCGTGGTCACGGGGTCCACCA	NM_182908	NP_878912	24108199	Q13268	DHRS2_HUMAN	0		GBM - Glioblastoma multiforme(265;0.00659)	2	573	+	A	A			Silent	20			NAD or NADP (By similarity).			
DHRS7B	0	broad.mit.edu	GRCh37	17	21094331	21094333	+	inframe_deletion	In_Frame_Del	DEL	GAA	GAA	-			TCGA-06-6701-01	TCGA-06-6701-01	GAA	GAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395511.3:c.852_854delGAA	p.Lys285del	p.K285del	ENST00000395511	NM_015510.4	281	ggGAAg/ggg	0			1			-	GK/G	uc002gyo.2	protein_coding	YES	CCDS11215.1			843-845/978									pancreas(1)	1	c.(841-846)GGGAAG>GGG			hmmpanther:PTHR24322,hmmpanther:PTHR24322:SF325,Gene3D:3.40.50.720,PIRSF_domain:PIRSF000126,Superfamily_domains:SSF51735	dehydrogenase/reductase (SDR family) member 7B				ENSP00000378887		7-Jul										7-Jul	.		ENST00000395511	Transcript				integral to membrane|peroxisomal membrane	binding|oxidoreductase activity	ENSG00000109016	g.chr17:21094331_21094333delGAA	24547	9		MODERATE								--	--	1																																				1			p.K285del	NM_015510	NP_056325				DRS7B_HUMAN	DHRS7B	HGNC	Q6IAN0	DRS7B_HUMAN			J3QKT1_HUMAN		7	870_872	+			UPI00000739CB	285			Peroxisomal (Potential).		deletion	DHRS7B,inframe_deletion,p.Lys285del,ENST00000395511,NM_015510.4;DHRS7B,inframe_deletion,p.Lys270del,ENST00000579303,;DHRS7B,inframe_deletion,p.Lys85del,ENST00000583388,;DHRS7B,intron_variant,,ENST00000581463,;DHRS7B,3_prime_UTR_variant,,ENST00000578426,;DHRS7B,non_coding_transcript_exon_variant,,ENST00000346603,;	uc002gyo.2	c.843_845delGAA	1163-1165/2175	5	5			c.843_845delGAA						17	DEL	c.(841-846)GGGAAG>GGG	8	8			pancreas(1)	1	Broad	dehydrogenase/reductase (SDR family) member 7B			21094333		0.507	ENSG00000109016	4418	g.chr17:21094331_21094333delGAA		integral to membrane|peroxisomal membrane	binding|oxidoreductase activity																				0.02	1	1	0	1	0	0	0	0	0	--	--		0	-				115	GBM-06-6701-TP	p.K285del	GAA	CTGCTGTGGGGAAGAAGAAGAAA	NM_015510	NP_056325	21094331	Q6IAN0	DRS7B_HUMAN	0			7	870_872	+	-	-			In_Frame_Del	285			Peroxisomal (Potential).			
DHRS9	10170		GRCh37	2	169939876	169939876	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000327239.4:c.351C>T	p.Gly117=	p.G117=	ENST00000327239	NM_005771.4	117	ggC/ggT	0																																																																																																																																																																																																																																												
DHX30	0	broad.mit.edu	GRCh37	3	47888187	47888187	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000445061.1:c.1625G>A	p.Arg542His	p.R542H	ENST00000445061	NM_138615.2	542	cGt/cAt	0			1			A	R/H	uc003cru.2	protein_coding	YES	CCDS2759.1			1625/3585									ovary(2)|skin(2)	4	c.(1624-1626)CGT>CAT			Superfamily_domains:SSF52540,SMART_domains:SM00487,Gene3D:3.40.50.300,Pfam_domain:PF00270,hmmpanther:PTHR18934:SF109,hmmpanther:PTHR18934,PROSITE_profiles:PS51192	DEAH (Asp-Glu-Ala-His) box polypeptide 30				ENSP00000405620		22-Nov									COSM3408715	22-Nov	.		ENST00000445061	Transcript				mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	ENSG00000132153	g.chr3:47888187G>A	16716			MODERATE		3.25	medium	getma.org/?cm=msa&ty=f&p=DHX30_HUMAN&rb=438&re=600&var=R542H	getma.org/pdb.php?prot=DHX30_HUMAN&from=438&to=600&var=R542H	getma.org/?cm=var&var=hg19,3,47888187,G,A&fts=all	R542H	--	--	1																																		DHX30_uc003crt.2_Missense_Mutation_p.R503H|MIR1226_hsa-mir-1226|MI0006313_5'Flank	1	1		possibly_damaging(0.722)	p.R542H	NM_138615	NP_619520		deleterious(0)	1	DHX30_HUMAN	DHX30	HGNC	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	H7BXY3_HUMAN		11	2051	+			UPI000007112B	542			Helicase ATP-binding.		SNV	DHX30,missense_variant,p.Arg503His,ENST00000446256,NM_014966.3;DHX30,missense_variant,p.Arg542His,ENST00000445061,NM_138615.2;DHX30,missense_variant,p.Arg514His,ENST00000348968,;DHX30,missense_variant,p.Arg570His,ENST00000457607,;MAP4,downstream_gene_variant,,ENST00000426837,;MAP4,downstream_gene_variant,,ENST00000395734,NM_001134364.1;MAP4,downstream_gene_variant,,ENST00000383737,;MAP4,downstream_gene_variant,,ENST00000264724,;MAP4,downstream_gene_variant,,ENST00000429422,;MIR1226,upstream_gene_variant,,ENST00000408658,;DHX30,downstream_gene_variant,,ENST00000461905,;DHX30,3_prime_UTR_variant,,ENST00000395745,;DHX30,downstream_gene_variant,,ENST00000441384,;DHX30,upstream_gene_variant,,ENST00000474183,;	uc003cru.2	c.1625G>A	2032/4065	2	2			c.1625G>A						3	SNP	c.(1624-1626)CGT>CAT	29	29			ovary(2)|skin(2)	4	Broad	DEAH (Asp-Glu-Ala-His) box polypeptide 30			47888187		0.627	ENSG00000132153	4425	g.chr3:47888187G>A		mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding							-7.937064	KEEP	0	4	-1	41	43	0	4	-1	8.109639	41	43	0.052632	1	0	0	0	0	1	0	0	0	--	--		0	A			DHX30_uc003crt.2_Missense_Mutation_p.R503H|MIR1226_hsa-mir-1226|MI0006313_5'Flank	235	GBM-32-2491-TP	p.R542H	G	ATCCTGCTGCGTAAGCTGCAG	NM_138615	NP_619520	47888187	Q7L2E3	DHX30_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	11	2051	+	A	A			Missense_Mutation	542			Helicase ATP-binding.			
DHX30	0	broad.mit.edu	GRCh37	3	47882649	47882649	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs138418233	by1000genomes	TCGA-41-4097-01	TCGA-41-4097-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000445061.1:c.649G>A	p.Ala217Thr	p.A217T	ENST00000445061	NM_138615.2	217	Gct/Act	0	A:0.0002	A:0	1	A:0		A	A/T	uc003cru.2	protein_coding	YES	CCDS2759.1			649/3585									ovary(2)|skin(2)	4	c.(649-651)GCT>ACT			hmmpanther:PTHR18934:SF109,hmmpanther:PTHR18934	DEAH (Asp-Glu-Ala-His) box polypeptide 30		A:0	A:0	ENSP00000405620	A:0.001	22-Jul	1.65E-05	0.000104				1.53E-05			rs138418233,COSM3408714	22-Jul	.		ENST00000445061	Transcript		A:0.0002		mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	ENSG00000132153	g.chr3:47882649G>A	16716			MODERATE		-1.1	neutral	getma.org/?cm=msa&ty=f&p=DHX30_HUMAN&rb=201&re=400&var=A217T	NA	getma.org/?cm=var&var=hg19,3,47882649,G,A&fts=all	A217T	--	--	1																																		DHX30_uc003crs.2_Missense_Mutation_p.A178T|DHX30_uc003crt.2_Missense_Mutation_p.A178T|DHX30_uc010hjr.1_Missense_Mutation_p.A245T	0,1	1		benign(0)	p.A217T	NM_138615	NP_619520	A:0	tolerated(1)	0,1	DHX30_HUMAN	DHX30	HGNC	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	H7BXY3_HUMAN		7	1075	+			UPI000007112B	217					SNV	DHX30,missense_variant,p.Ala178Thr,ENST00000446256,NM_014966.3;DHX30,missense_variant,p.Ala217Thr,ENST00000445061,NM_138615.2;DHX30,missense_variant,p.Ala189Thr,ENST00000348968,;DHX30,missense_variant,p.Ala245Thr,ENST00000457607,;DHX30,upstream_gene_variant,,ENST00000461905,;DHX30,3_prime_UTR_variant,,ENST00000395745,;DHX30,3_prime_UTR_variant,,ENST00000441384,;	uc003cru.2	c.649G>A	1056/4065	2	2			c.649G>A						3	SNP	c.(649-651)GCT>ACT	45	45			ovary(2)|skin(2)	4	Broad	DEAH (Asp-Glu-Ala-His) box polypeptide 30			47882649		0.552	ENSG00000132153	4425	g.chr3:47882649G>A		mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding							45.883446	KEEP	8	12	-1	19	17	8	12	-1	46.942346	19	17	0.340426	1	0	0	0	0	1	0	0	0	--	--		0	A			DHX30_uc003crs.2_Missense_Mutation_p.A178T|DHX30_uc003crt.2_Missense_Mutation_p.A178T|DHX30_uc010hjr.1_Missense_Mutation_p.A245T	257	GBM-41-4097-TP	p.A217T	G	GGATTCCCACGCTCCACTCAG	NM_138615	NP_619520	47882649	Q7L2E3	DHX30_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	7	1075	+	A	A			Missense_Mutation	217						
DHX32	55760	broad.mit.edu	GRCh37	10	127527726	127527726	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0877-01	TCGA-06-0877-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284690.3:c.1725C>G	p.Phe575Leu	p.F575L	ENST00000284690	NM_018180.2	575	ttC/ttG	0			1			C	F/L	uc001ljf.1	protein_coding	YES	CCDS7652.1			1725/2232									breast(2)|ovary(1)|lung(1)	4	c.(1723-1725)TTC>TTG			hmmpanther:PTHR18934:SF88,hmmpanther:PTHR18934	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32				ENSP00000284690		11-Sep									COSM3396972	11-Sep	.		ENST00000284690	Transcript				mitochondrion|nucleus	ATP binding|helicase activity	ENSG00000089876	g.chr10:127527726G>C	16717			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=DHX32_HUMAN&rb=549&re=588&var=F575L	getma.org/pdb.php?prot=DHX32_HUMAN&from=549&to=588&var=F575L	getma.org/?cm=var&var=hg19,10,127527726,G,C&fts=all	F575L	--	--	1																																		BCCIP_uc001ljd.3_Intron|DHX32_uc001lje.1_Missense_Mutation_p.F199L|DHX32_uc001ljg.1_Missense_Mutation_p.F575L|BCCIP_uc010qui.1_Intron|BCCIP_uc001ljc.3_Intron|BCCIP_uc010quj.1_Intron	1	1		benign(0.018)	p.F575L	NM_018180	NP_060650		tolerated(0.15)	1	DHX32_HUMAN	DHX32	HGNC	Q7L7V1	DHX32_HUMAN					9	2216	-		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	UPI00000467F4	575					SNV	DHX32,missense_variant,p.Phe575Leu,ENST00000284690,NM_018180.2;DHX32,missense_variant,p.Phe494Leu,ENST00000284688,;DHX32,missense_variant,p.Phe199Leu,ENST00000368721,;BCCIP,intron_variant,,ENST00000299130,NM_078469.2;BCCIP,intron_variant,,ENST00000368759,NM_016567.3;BCCIP,intron_variant,,ENST00000429863,;BCCIP,downstream_gene_variant,,ENST00000278100,NM_078468.2;AL360176.1,upstream_gene_variant,,ENST00000401153,;	uc001ljf.1	c.1725C>G	2216/3070	3	3			c.1725C>G						10	SNP	c.(1723-1725)TTC>TTG	60	60			breast(2)|ovary(1)|lung(1)	4	Broad	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32			127527726		0.453	ENSG00000089876	4426	g.chr10:127527726G>C		mitochondrion|nucleus	ATP binding|helicase activity							37.487508	KEEP	9	9	-1	71	58	9	9	-1	54.477455	71	58	0.131783	1	0	0	0	0	1	0	0	0	--	--		0	C			BCCIP_uc001ljd.3_Intron|DHX32_uc001lje.1_Missense_Mutation_p.F199L|DHX32_uc001ljg.1_Missense_Mutation_p.F575L|BCCIP_uc010qui.1_Intron|BCCIP_uc001ljc.3_Intron|BCCIP_uc010quj.1_Intron	73	GBM-06-0877-TP	p.F575L	G	AACAGTTGAGGAAGTAATCAC	NM_018180	NP_060650	127527726	Q7L7V1	DHX32_HUMAN	0			9	2216	-	C	C		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	Missense_Mutation	575						
DHX32	0	broad.mit.edu	GRCh37	10	127541113	127541113	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C			TCGA-28-5215-01	TCGA-28-5215-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284690.3:c.1191A>G	p.Ser397=	p.S397=	ENST00000284690	NM_018180.2	397	tcA/tcG	0			1			C	S	uc001ljf.1	protein_coding	YES	CCDS7652.1			1191/2232									breast(2)|ovary(1)|lung(1)	4	c.(1189-1191)TCA>TCG			hmmpanther:PTHR18934:SF88,hmmpanther:PTHR18934,Superfamily_domains:SSF52540	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32				ENSP00000284690		11-May									COSM3396973	11-May	.		ENST00000284690	Transcript				mitochondrion|nucleus	ATP binding|helicase activity	ENSG00000089876	g.chr10:127541113T>C	16717			LOW								--	--	1																																		BCCIP_uc001ljd.3_Intron|DHX32_uc001lje.1_Silent_p.S21S|DHX32_uc001ljg.1_Silent_p.S397S|DHX32_uc009yam.1_Silent_p.S152S	1	1			p.S397S	NM_018180	NP_060650			1	DHX32_HUMAN	DHX32	HGNC	Q7L7V1	DHX32_HUMAN					5	1682	-		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	UPI00000467F4	397					SNV	DHX32,splice_region_variant,p.=,ENST00000284690,NM_018180.2;DHX32,splice_region_variant,p.=,ENST00000284688,;DHX32,splice_region_variant,p.=,ENST00000368721,;BCCIP,intron_variant,,ENST00000368759,NM_016567.3;	uc001ljf.1	c.1191A>G	1682/3070	3	3			c.1191A>G						10	SNP	c.(1189-1191)TCA>TCG	63	63			breast(2)|ovary(1)|lung(1)	4	Broad	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32			127541113		0.433	ENSG00000089876	4426	g.chr10:127541113T>C		mitochondrion|nucleus	ATP binding|helicase activity							-37.320208	KEEP	3	0	-1	95	86	3	0	-1	6.407215	95	86	0.017964	1	0	0	0	0	0	0	1	0	--	--		0	C			BCCIP_uc001ljd.3_Intron|DHX32_uc001lje.1_Silent_p.S21S|DHX32_uc001ljg.1_Silent_p.S397S|DHX32_uc009yam.1_Silent_p.S152S	222	GBM-28-5215-TP	p.S397S	T	CAGCACTACCTGAAGAAGATG	NM_018180	NP_060650	127541113	Q7L7V1	DHX32_HUMAN	0			5	1682	-	C	C		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	Silent	397						
DHX34	0	broad.mit.edu	GRCh37	19	47879753	47879753	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328771.4:c.2535C>T	p.Phe845=	p.F845=	ENST00000328771	NM_014681.5	845	ttC/ttT	0		T:0	1	T:0.0014		T	F	uc010xyn.1	protein_coding	YES	CCDS12700.1			2535/3432									ovary(4)|upper_aerodigestive_tract(1)	5	c.(2533-2535)TTC>TTT			hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF110,Pfam_domain:PF07717	DEAH (Asp-Glu-Ala-His) box polypeptide 34		T:0		ENSP00000331907	T:0	17-Dec	0.000198		0.00324			5.58E-05		0.000177	rs571902778,COSM2156050	17-Dec	common_variant		ENST00000328771	Transcript		T:0.0002		intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	ENSG00000134815	g.chr19:47879753C>T	16719			LOW								--	--	1																																		DHX34_uc010xyo.1_5'Flank	0,1	1			p.F845F	NM_014681	NP_055496	T:0		0,1	DHX34_HUMAN	DHX34	HGNC	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)			12	2876	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	UPI0000202759	845					SNV	DHX34,synonymous_variant,p.=,ENST00000328771,NM_014681.5;DHX34,downstream_gene_variant,,ENST00000471451,;DHX34,synonymous_variant,p.=,ENST00000460681,;DHX34,non_coding_transcript_exon_variant,,ENST00000486327,;	uc010xyn.1	c.2535C>T	2884/4372	2	2			c.2535C>T						19	SNP	c.(2533-2535)TTC>TTT	35	35			ovary(4)|upper_aerodigestive_tract(1)	5	Broad	DEAH (Asp-Glu-Ala-His) box polypeptide 34			47879753		0.652	ENSG00000134815	4428	g.chr19:47879753C>T		intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding							16.642166	KEEP	2	7	-1	9	8	2	7	-1	17.356929	9	8	0.3	1	0	0	0	0	0	0	1	0	--	--		0	T			DHX34_uc010xyo.1_5'Flank	160	GBM-19-1790-TP	p.F845F	C	CCTGCGTCTTCGCTGGCAGCC	NM_014681	NP_055496	47879753	Q14147	DHX34_HUMAN	0		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	12	2876	+	T	T		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	Silent	845						
DHX34	9704		GRCh37	19	47876058	47876058	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000328771.4:c.1840G>A	p.Val614Ile	p.V614I	ENST00000328771	NM_014681.5	614	Gtc/Atc	0																																																																																																																																																																																																																																												
DHX35	60625		GRCh37	20	37632428	37632428	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000252011.3:c.889C>A	p.Gln297Lys	p.Q297K	ENST00000252011	NM_021931.3	297	Cag/Aag	0																																																																																																																																																																																																																																												
DHX38	9785	broad.mit.edu	GRCh37	16	72130894	72130894	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0129-01	TCGA-06-0129-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268482.3:c.497G>A	p.Arg166His	p.R166H	ENST00000268482	NM_014003.3	166	cGc/cAc	0			1			A	R/H	uc002fcb.2	protein_coding	YES	CCDS10907.1			497/3684									skin(1)	1	c.(496-498)CGC>CAC			Low_complexity_(Seg):seg,hmmpanther:PTHR18934:SF91,hmmpanther:PTHR18934	DEAH (Asp-Glu-Ala-His) box polypeptide 38				ENSP00000268482		27-Mar									COSM973450	27-Mar	.		ENST00000268482	Transcript			mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	ENSG00000140829	g.chr16:72130894G>A	17211			MODERATE		2.31	medium	getma.org/?cm=msa&ty=f&p=PRP16_HUMAN&rb=1&re=200&var=R166H	NA	getma.org/?cm=var&var=hg19,16,72130894,G,A&fts=all	R166H	--	--	1																																		TXNL4B_uc010vmo.1_5'Flank|DHX38_uc010vmp.1_Intron|DHX38_uc010cgn.1_RNA	1	1		benign(0)	p.R166H	NM_014003	NP_054722		deleterious(0.03)	1	PRP16_HUMAN	DHX38	HGNC	Q92620	PRP16_HUMAN			H3BV01_HUMAN,H3BQT9_HUMAN,B4DN69_HUMAN,B4DM30_HUMAN		3	852	+		Ovarian(137;0.125)	UPI000002FBFE	166					SNV	DHX38,missense_variant,p.Arg166His,ENST00000268482,NM_014003.3;DHX38,intron_variant,,ENST00000536867,;TXNL4B,upstream_gene_variant,,ENST00000268483,NM_017853.2,NM_001142318.1;TXNL4B,upstream_gene_variant,,ENST00000423037,NM_001142317.1;TXNL4B,upstream_gene_variant,,ENST00000426362,;DHX38,downstream_gene_variant,,ENST00000566794,;TXNL4B,upstream_gene_variant,,ENST00000562153,;DHX38,downstream_gene_variant,,ENST00000566489,;TXNL4B,upstream_gene_variant,,ENST00000569767,;DHX38,non_coding_transcript_exon_variant,,ENST00000564307,;DHX38,intron_variant,,ENST00000579387,;DHX38,upstream_gene_variant,,ENST00000563650,;TXNL4B,upstream_gene_variant,,ENST00000565171,;DHX38,upstream_gene_variant,,ENST00000566329,;	uc002fcb.2	c.497G>A	1006/4608	1	1			c.497G>A						16	SNP	c.(496-498)CGC>CAC	61	61			skin(1)	1	Broad	DEAH (Asp-Glu-Ala-His) box polypeptide 38			72130894		0.488	ENSG00000140829	4432	g.chr16:72130894G>A	mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	Melanoma(97;711 1442 7855 13832 28836)			Melanoma(97;711 1442 7855 13832 28836)			-15.694379	KEEP	3	1	-1	47	57	3	1	-1	7.968331	47	57	0.038835	1	0	0	0	0	1	0	0	0	--	--		0	A			TXNL4B_uc010vmo.1_5'Flank|DHX38_uc010vmp.1_Intron|DHX38_uc010cgn.1_RNA	15	GBM-06-0129-TP	p.R166H	G	GACTATGACCGCAAGAGGGAC	NM_014003	NP_054722	72130894	Q92620	PRP16_HUMAN	0			3	852	+	A	A		Ovarian(137;0.125)	Missense_Mutation	166						
DHX40	79665	broad.mit.edu	GRCh37	17	57651146	57651146	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs2523371	by1000genomes	TCGA-06-0190-01	TCGA-06-0190-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251241.4:c.592C>G	p.Pro198Ala	p.P198A	ENST00000251241	NM_024612.4	198	Cct/Gct	0		G:0.0008	1	G:0		G	P/A	uc002ixn.1	protein_coding	YES	CCDS11617.1			592/2340										0	c.(592-594)CCT>GCT			PROSITE_profiles:PS51192,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF98,Pfam_domain:PF00270,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540	DEAH (Asp-Glu-Ala-His) box polypeptide 40		G:0		ENSP00000251241	G:0.002	18-May	0.00145	0.000581	0.000259	0.000579	0.00318	0.00179		6.06E-05	rs2523371,COSM3403066,COSM3403067	18-May	common_variant		ENST00000251241	Transcript		G:0.0006			ATP binding|ATP-dependent helicase activity|nucleic acid binding	ENSG00000108406	g.chr17:57651146C>G	18018			MODERATE		0.825	low	getma.org/?cm=msa&ty=f&p=DHX40_HUMAN&rb=53&re=221&var=P198A	getma.org/pdb.php?prot=DHX40_HUMAN&from=53&to=221&var=P198A	getma.org/?cm=var&var=hg19,17,57651146,C,G&fts=all	P198A	--	--	1																																		DHX40_uc010woe.1_Missense_Mutation_p.P121A|DHX40_uc002ixo.1_Missense_Mutation_p.P99A	0,1,1	1		benign(0.001)	p.P198A	NM_024612	NP_078888	G:0	tolerated(0.77)	0,1,1	DHX40_HUMAN	DHX40	HGNC	Q8IX18	DHX40_HUMAN					5	739	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		UPI000006E150	198			Helicase ATP-binding.		SNV	DHX40,missense_variant,p.Pro99Ala,ENST00000451169,;DHX40,missense_variant,p.Pro198Ala,ENST00000251241,NM_024612.4;DHX40,missense_variant,p.Pro121Ala,ENST00000425628,NM_001166301.1;DHX40,missense_variant,p.Pro178Ala,ENST00000580030,;DHX40,missense_variant,p.Pro142Ala,ENST00000584385,;DHX40,upstream_gene_variant,,ENST00000538926,;DHX40,3_prime_UTR_variant,,ENST00000580218,;DHX40,downstream_gene_variant,,ENST00000577596,;	uc002ixn.1	c.592C>G	739/3660	3	3			c.592C>G						17	SNP	c.(592-594)CCT>GCT	1	1				0	Broad	DEAH (Asp-Glu-Ala-His) box polypeptide 40			57651146		0.343	ENSG00000108406	4433	g.chr17:57651146C>G			ATP binding|ATP-dependent helicase activity|nucleic acid binding							-7.332939	KEEP	2	2	-1	37	38	2	2	-1	8.353909	37	38	0.042857	1	0	0	0	0	1	0	0	0	--	--		0	G			DHX40_uc010woe.1_Missense_Mutation_p.P121A|DHX40_uc002ixo.1_Missense_Mutation_p.P99A	43	GBM-06-0190-TP	p.P198A	C	GGAGAAGTCTCCTAATAGGAA	NM_024612	NP_078888	57651146	Q8IX18	DHX40_HUMAN	0			5	739	+	G	G	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Missense_Mutation	198			Helicase ATP-binding.			
DHX40	0	broad.mit.edu	GRCh37	17	57665340	57665340	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01	TCGA-32-4719-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251241.4:c.1508C>T	p.Ala503Val	p.A503V	ENST00000251241	NM_024612.4	503	gCt/gTt	0			1			T	A/V	uc002ixn.1	protein_coding	YES	CCDS11617.1			1508/2340										0	c.(1507-1509)GCT>GTT			hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF98,Pfam_domain:PF04408,SMART_domains:SM00847,Superfamily_domains:SSF52540	DEAH (Asp-Glu-Ala-His) box polypeptide 40				ENSP00000251241		18-Dec									COSM3403068,COSM3403069	18-Dec	.		ENST00000251241	Transcript					ATP binding|ATP-dependent helicase activity|nucleic acid binding	ENSG00000108406	g.chr17:57665340C>T	18018			MODERATE		0.88	low	getma.org/?cm=msa&ty=f&p=DHX40_HUMAN&rb=462&re=557&var=A503V	getma.org/pdb.php?prot=DHX40_HUMAN&from=462&to=557&var=A503V	getma.org/?cm=var&var=hg19,17,57665340,C,T&fts=all	A503V	--	--	1																																		DHX40_uc010woe.1_Missense_Mutation_p.A426V|DHX40_uc010wof.1_Missense_Mutation_p.A18V	1,1	1		benign(0.014)	p.A503V	NM_024612	NP_078888		tolerated(1)	1,1	DHX40_HUMAN	DHX40	HGNC	Q8IX18	DHX40_HUMAN					12	1655	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		UPI000006E150	503					SNV	DHX40,missense_variant,p.Ala455Val,ENST00000451169,;DHX40,missense_variant,p.Ala503Val,ENST00000251241,NM_024612.4;DHX40,missense_variant,p.Ala426Val,ENST00000425628,NM_001166301.1;DHX40,missense_variant,p.Ala152Val,ENST00000538926,;DHX40,non_coding_transcript_exon_variant,,ENST00000583439,;	uc002ixn.1	c.1508C>T	1655/3660	1	1			c.1508C>T						17	SNP	c.(1507-1509)GCT>GTT	2	2				0	Broad	DEAH (Asp-Glu-Ala-His) box polypeptide 40			57665340		0.398	ENSG00000108406	4433	g.chr17:57665340C>T			ATP binding|ATP-dependent helicase activity|nucleic acid binding							13.682773	KEEP	4	13	-1	64	81	4	13	-1	32.935626	64	81	0.104839	1	0	0	0	0	1	0	0	0	--	--		0	T			DHX40_uc010woe.1_Missense_Mutation_p.A426V|DHX40_uc010wof.1_Missense_Mutation_p.A18V	248	GBM-32-4719-TP	p.A503V	C	ATAAAAGCTGCTTCCCTGGAT	NM_024612	NP_078888	57665340	Q8IX18	DHX40_HUMAN	0			12	1655	+	T	T	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Missense_Mutation	503						
DHX57	0	broad.mit.edu	GRCh37	2	39088222	39088222	+	frameshift_variant,NMD_transcript_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-28-6450-01	TCGA-28-6450-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000457308.1:c.1024delT	p.Ser342LeufsTer5	p.S342Lfs*5	ENST00000457308		342	Tct/ct	0			1			-	S/X	uc002rrf.2	nonsense_mediated_decay					1024/1419									ovary(1)|lung(1)|skin(1)	3	c.(1330-1332)TCTfs			hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF106	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57				ENSP00000405111		23-Apr										23-Apr	.		ENST00000457308	Transcript					ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	ENSG00000163214	g.chr2:39088222delA	20086			HIGH								--	--	1																																		DHX57_uc002rre.2_5'UTR|DHX57_uc002rrg.2_Frame_Shift_Del_p.S444fs					p.S444fs	NM_198963	NP_945314					DHX57	HGNC	Q6P158	DHX57_HUMAN			F8WAZ3_HUMAN,C9J207_HUMAN		5	1429	-		all_hematologic(82;0.248)	UPI0000231C8A	444					deletion	DHX57,frameshift_variant,p.Ser444LeufsTer5,ENST00000295373,NM_198963.1;DHX57,downstream_gene_variant,,ENST00000417233,;AC018693.6,upstream_gene_variant,,ENST00000442829,;DHX57,non_coding_transcript_exon_variant,,ENST00000479345,;DHX57,upstream_gene_variant,,ENST00000492042,;DHX57,frameshift_variant,p.Ser342LeufsTer5,ENST00000457308,;DHX57,non_coding_transcript_exon_variant,,ENST00000460193,;DHX57,non_coding_transcript_exon_variant,,ENST00000474104,;	uc002rrf.2	c.1330delT	1236/4109	5	5			c.1330delT						2	DEL	c.(1330-1332)TCTfs	33	33			ovary(1)|lung(1)|skin(1)	3	Broad	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57			39088222		0.378	ENSG00000163214	4434	g.chr2:39088222delA			ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	Melanoma(191;1090 2095 4375 23729 47341)			Melanoma(191;1090 2095 4375 23729 47341)																0.34	1	1	0	1	0	0	0	0	0	--	--		0	-			DHX57_uc002rre.2_5'UTR|DHX57_uc002rrg.2_Frame_Shift_Del_p.S444fs	227	GBM-28-6450-TP	p.S444fs	A	CTGGTCCTAGAGGGTACTGGC	NM_198963	NP_945314	39088222	Q6P158	DHX57_HUMAN	0			5	1429	-	-	-		all_hematologic(82;0.248)	Frame_Shift_Del	444						
DHX58	0	broad.mit.edu	GRCh37	17	40263362	40263362	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-27-1838-01	TCGA-27-1838-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251642.3:c.322C>A	p.Gln108Lys	p.Q108K	ENST00000251642	NM_024119.2	108	Cag/Aag	0			1			T	Q/K	uc002hyw.3	protein_coding	YES	CCDS11416.1			322/2037										0	c.(322-324)CAG>AAG			Superfamily_domains:SSF52540,SMART_domains:SM00487,Pfam_domain:PF04851,Gene3D:3.40.50.300,hmmpanther:PTHR14074:SF7,hmmpanther:PTHR14074,PROSITE_profiles:PS51192	RNA helicase LGP2				ENSP00000251642		14-Apr									COSM3402902	14-Apr	.		ENST00000251642	Transcript			innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding	ENSG00000108771	g.chr17:40263362G>T	29517			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=DHX58_HUMAN&rb=1&re=172&var=Q108K	getma.org/pdb.php?prot=DHX58_HUMAN&from=1&to=172&var=Q108K	getma.org/?cm=var&var=hg19,17,40263362,G,T&fts=all	Q108K	--	--	1																																		DHX58_uc002hyv.3_Intron|DHX58_uc010wgf.1_Missense_Mutation_p.Q101K	1	1		benign(0.41)	p.Q108K	NM_024119	NP_077024		tolerated(0.06)	1	DHX58_HUMAN	DHX58	HGNC	Q96C10	DHX58_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	K7EMZ5_HUMAN,C9JG98_HUMAN,C9JE76_HUMAN		4	545	-		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)	UPI000006ED88	108			Helicase ATP-binding.		SNV	DHX58,missense_variant,p.Gln108Lys,ENST00000251642,NM_024119.2;DHX58,missense_variant,p.Gln108Lys,ENST00000413196,;DHX58,missense_variant,p.Gln108Lys,ENST00000430773,;DHX58,missense_variant,p.Gln39Lys,ENST00000591220,;KAT2A,downstream_gene_variant,,ENST00000225916,NM_021078.2;DHX58,non_coding_transcript_exon_variant,,ENST00000586522,;KAT2A,downstream_gene_variant,,ENST00000465682,;KAT2A,downstream_gene_variant,,ENST00000586972,;DHX58,upstream_gene_variant,,ENST00000590637,;KAT2A,downstream_gene_variant,,ENST00000592310,;KAT2A,downstream_gene_variant,,ENST00000588759,;	uc002hyw.3	c.322C>A	545/2617	2	2			c.322C>A						17	SNP	c.(322-324)CAG>AAG	27	27				0	Broad	RNA helicase LGP2			40263362		0.622	ENSG00000108771	4435	g.chr17:40263362G>T	innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding							111.460754	KEEP	21	22	0.488372093	28	30	21	22	0.488372093	112.229275	28	30	0.402174	1	0	0	0	0	1	0	0	0	--	--		0	T			DHX58_uc002hyv.3_Intron|DHX58_uc010wgf.1_Missense_Mutation_p.Q101K	197	GBM-27-1838-TP	p.Q108K	G	AGTGCCATCTGCAGAAGCTCT	NM_024119	NP_077024	40263362	Q96C10	DHX58_HUMAN	0		BRCA - Breast invasive adenocarcinoma(366;0.126)	4	545	-	T	T		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)	Missense_Mutation	108			Helicase ATP-binding.			
DIABLO	0	broad.mit.edu	GRCh37	12	122702873	122702873	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-32-4210-01	TCGA-32-4210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000443649.3:c.255C>A	p.Thr85=	p.T85=	ENST00000443649	NM_019887.5	85	acC/acA	0			1			T	T	uc010tab.1	protein_coding	YES	CCDS9228.1			255/720										0	c.(253-255)ACC>ACA			Superfamily_domains:SSF46984,Gene3D:1.20.58.70,Pfam_domain:PF09057,hmmpanther:PTHR32247	diablo isoform 1 precursor				ENSP00000398495		7-Apr									COSM3398459	7-Apr	.		ENST00000443649	Transcript	1		activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding	ENSG00000184047	g.chr12:122702873G>T	21528			LOW								--	--	1																																		DIABLO_uc010taa.1_Silent_p.T32T|DIABLO_uc010tac.1_Intron|DIABLO_uc010tad.1_Intron|VPS33A_uc001ucc.2_RNA	1	1			p.T85T	NM_019887	NP_063940			1	DBLOH_HUMAN	DIABLO	HGNC	Q9NR28	DBLOH_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)	F5H796_HUMAN,F5H0Q4_HUMAN,F5GYH3_HUMAN,F5GX50_HUMAN		4	1060	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		UPI0000000CBE	85	Missing (in Ref. 2; BAB71568).				SNV	DIABLO,synonymous_variant,p.=,ENST00000464942,NM_001278304.1;DIABLO,synonymous_variant,p.=,ENST00000443649,NM_019887.5;DIABLO,synonymous_variant,p.=,ENST00000267169,NM_138930.3;DIABLO,synonymous_variant,p.=,ENST00000474004,;DIABLO,synonymous_variant,p.=,ENST00000541656,;DIABLO,synonymous_variant,p.=,ENST00000540535,;DIABLO,synonymous_variant,p.=,ENST00000446652,;DIABLO,synonymous_variant,p.=,ENST00000485724,;DIABLO,intron_variant,,ENST00000413918,;DIABLO,intron_variant,,ENST00000353548,NM_001278342.1;DIABLO,intron_variant,,ENST00000541273,;DIABLO,upstream_gene_variant,,ENST00000439489,;RP11-512M8.5,3_prime_UTR_variant,,ENST00000535844,;DIABLO,3_prime_UTR_variant,,ENST00000342392,;DIABLO,non_coding_transcript_exon_variant,,ENST00000489781,;	uc010tab.1	c.255C>A	1073/2250	2	2			c.255C>A						12	SNP	c.(253-255)ACC>ACA	22	22				0	Broad	diablo isoform 1 precursor			122702873		0.388	ENSG00000184047	4438	g.chr12:122702873G>T	activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding			98			98	230.75417	KEEP	44	51	0.463157895	84	106	44	51	0.463157895	236.494023	84	106	0.339921	1	0	0	0	0	0	0	1	0	--	--		0	T			DIABLO_uc010taa.1_Silent_p.T32T|DIABLO_uc010tac.1_Intron|DIABLO_uc010tad.1_Intron|VPS33A_uc001ucc.2_RNA	245	GBM-32-4210-TP	p.T85T	G	GAAAGGTAGAGGTGCTATCTG	NM_019887	NP_063940	122702873	Q9NR28	DBLOH_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)	4	1060	-	T	T	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		Silent	85	Missing (in Ref. 2; BAB71568).					
DIAPH1	1729	broad.mit.edu	GRCh37	5	140960406	140960406	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-0139-01	TCGA-06-0139-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398557.4:c.729G>T	p.Leu243=	p.L243=	ENST00000398557	NM_005219.4	243	ctG/ctT	0			1			A	L	uc003llb.3	protein_coding					729/3810									skin(1)	1	c.(727-729)CTG>CTT			PROSITE_profiles:PS51232,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF17,Pfam_domain:PF06371,Superfamily_domains:SSF48371	diaphanous 1 isoform 1				ENSP00000373706		27-Aug									COSM3409952	27-Aug	.		ENST00000389054	Transcript	1		regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	ENSG00000131504	g.chr5:140960406C>A	2876			LOW								--	--	1																																		DIAPH1_uc003llc.3_Silent_p.L234L	1				p.L243L	NM_005219	NP_005210			1		DIAPH1	HGNC	O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q7KZJ7_HUMAN,Q6UUU0_HUMAN,E9PEZ3_HUMAN,E7ERW8_HUMAN,E5RJ79_HUMAN		8	870	-			UPI0001E8F44E	243			GBD/FH3.		SNV	DIAPH1,synonymous_variant,p.=,ENST00000253811,;DIAPH1,synonymous_variant,p.=,ENST00000398557,NM_005219.4;DIAPH1,synonymous_variant,p.=,ENST00000389054,;DIAPH1,synonymous_variant,p.=,ENST00000398566,;DIAPH1,synonymous_variant,p.=,ENST00000389057,NM_001079812.2;DIAPH1,synonymous_variant,p.=,ENST00000398562,;DIAPH1,synonymous_variant,p.=,ENST00000520569,;DIAPH1,synonymous_variant,p.=,ENST00000518047,;DIAPH1,downstream_gene_variant,,ENST00000524301,;DIAPH1,synonymous_variant,p.=,ENST00000521457,;DIAPH1,intron_variant,,ENST00000523100,;DIAPH1,upstream_gene_variant,,ENST00000472516,;	uc003llb.3	c.729G>T	870/5786	2	2			c.729G>T						5	SNP	c.(727-729)CTG>CTT	24	24			skin(1)	1	Broad	diaphanous 1 isoform 1			140960406		0.473	ENSG00000131504	4439	g.chr5:140960406C>A	regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding							-7.349259	KEEP	2	2	0.5	39	29	2	2	0.5	7.607123	39	29	0.055556	1	0	0	0	0	0	0	1	0	--	--		0	A			DIAPH1_uc003llc.3_Silent_p.L234L	19	GBM-06-0139-TP	p.L243L	C	CTCTGACCAGCAGTAGGATTC	NM_005219	NP_005210	140960406	O60610	DIAP1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		8	870	-	A	A			Silent	243			GBD/FH3.			
DIAPH2	1730	broad.mit.edu	GRCh37	X	96684727	96684727	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324765.8:c.3224G>A	p.Arg1075Gln	p.R1075Q	ENST00000324765		1075	cGg/cAg	0		A:0.0008	1	A:0		A	R/Q	uc004efu.3	protein_coding	YES	CCDS14467.1			3224/3306									ovary(3)|lung(1)	4	c.(3223-3225)CGG>CAG			PROSITE_profiles:PS51231,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF174	diaphanous 2 isoform 156		A:0		ENSP00000321348	A:0	26/27	2.47E-05	0.000122				2.23E-05			rs771338255,COSM2149607	26/27	.		ENST00000324765	Transcript	1	A:0.0003	cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	ENSG00000147202	g.chrX:96684727G>A	2877			MODERATE		2.25	medium	getma.org/?cm=msa&ty=f&p=DIAP2_HUMAN&rb=1051&re=1081&var=R1075Q	NA	getma.org/?cm=var&var=hg19,X,96684727,G,A&fts=all	R1075Q	--	--	1																																		DIAPH2_uc004eft.3_Missense_Mutation_p.R1075Q	0,1	1		probably_damaging(0.996)	p.R1075Q	NM_006729	NP_006720	A:0	deleterious(0.03)	0,1	DIAP2_HUMAN	DIAPH2	HGNC	O60879	DIAP2_HUMAN					26	3620	+			UPI00001293C8	1075			Arg/Lys-rich (basic).|DAD.		SNV	DIAPH2,missense_variant,p.Arg1075Gln,ENST00000324765,;DIAPH2,missense_variant,p.Arg1075Gln,ENST00000373061,NM_006729.4;DIAPH2,missense_variant,p.Arg1075Gln,ENST00000355827,NM_007309.3;DIAPH2,missense_variant,p.Arg1075Gln,ENST00000373049,;DIAPH2,missense_variant,p.Arg1071Gln,ENST00000373054,;DIAPH2-AS1,downstream_gene_variant,,ENST00000439759,;	uc004efu.3	c.3224G>A	3571/9333	2	2			c.3224G>A						23	SNP	c.(3223-3225)CGG>CAG	34	34			ovary(3)|lung(1)	4	Broad	diaphanous 2 isoform 156			96684727		0.408	ENSG00000147202	4440	g.chrX:96684727G>A	cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding							103.906671	KEEP	16	18	-1	17	14	16	18	-1	103.909909	17	14	0.508197	1	0	0	0	0	1	0	0	0	--	--		0	A			DIAPH2_uc004eft.3_Missense_Mutation_p.R1075Q	18	GBM-06-0137-TP	p.R1075Q	G	CGTCGAAAGCGGATTCCAAGG	NM_006729	NP_006720	96684727	O60879	DIAP2_HUMAN	0			26	3620	+	A	A			Missense_Mutation	1075			Arg/Lys-rich (basic).|DAD.			
DIAPH2	1730	broad.mit.edu	GRCh37	X	96171460	96171460	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0145-01	TCGA-06-0145-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324765.8:c.756A>G	p.Gly252=	p.G252=	ENST00000324765		252	ggA/ggG	0			1			G	G	uc004efu.3	protein_coding	YES	CCDS14467.1			756/3306									ovary(3)|lung(1)	4	c.(754-756)GGA>GGG			Pfam_domain:PF06371,PROSITE_profiles:PS51232,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF174,Superfamily_domains:SSF48371	diaphanous 2 isoform 156				ENSP00000321348		27-Aug									COSM2149706	27-Aug	.		ENST00000324765	Transcript	1		cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	ENSG00000147202	g.chrX:96171460A>G	2877			LOW								--	--	1																																		DIAPH2_uc004eft.3_Silent_p.G252G|DIAPH2_uc004efs.2_Silent_p.G259G	1	1			p.G252G	NM_006729	NP_006720			1	DIAP2_HUMAN	DIAPH2	HGNC	O60879	DIAP2_HUMAN					8	1152	+			UPI00001293C8	252			GBD/FH3.		SNV	DIAPH2,synonymous_variant,p.=,ENST00000324765,;DIAPH2,synonymous_variant,p.=,ENST00000373061,NM_006729.4;DIAPH2,synonymous_variant,p.=,ENST00000355827,NM_007309.3;DIAPH2,synonymous_variant,p.=,ENST00000373049,;DIAPH2,synonymous_variant,p.=,ENST00000373054,;	uc004efu.3	c.756A>G	1103/9333	3	3			c.756A>G						23	SNP	c.(754-756)GGA>GGG	53	53			ovary(3)|lung(1)	4	Broad	diaphanous 2 isoform 156			96171460		0.299	ENSG00000147202	4440	g.chrX:96171460A>G	cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding							51.317409	KEEP	8	7	-1	17	8	8	7	-1	51.865277	17	8	0.375	1	0	0	0	0	0	0	1	0	--	--		0	G			DIAPH2_uc004eft.3_Silent_p.G252G|DIAPH2_uc004efs.2_Silent_p.G259G	23	GBM-06-0145-TP	p.G252G	A	GGATTCTAGGAGATGAAAGAA	NM_006729	NP_006720	96171460	O60879	DIAP2_HUMAN	0			8	1152	+	G	G			Silent	252			GBD/FH3.			
DIAPH2	0	broad.mit.edu	GRCh37	X	96638984	96638984	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01	TCGA-14-4157-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324765.8:c.3086C>T	p.Ala1029Val	p.A1029V	ENST00000324765		1029	gCt/gTt	0			1			T	A/V	uc004efu.3	protein_coding	YES	CCDS14467.1			3086/3306									ovary(3)|lung(1)	4	c.(3085-3087)GCT>GTT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF174,Low_complexity_(Seg):seg,SMART_domains:SM00498,Superfamily_domains:SSF101447	diaphanous 2 isoform 156				ENSP00000321348		25/27									COSM3406685,COSM3406686	25/27	.		ENST00000324765	Transcript	1		cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	ENSG00000147202	g.chrX:96638984C>T	2877			MODERATE		2.63	medium	getma.org/?cm=msa&ty=f&p=DIAP2_HUMAN&rb=1004&re=1053&var=A1029V	getma.org/pdb.php?prot=DIAP2_HUMAN&from=1004&to=1053&var=A1029V	getma.org/?cm=var&var=hg19,X,96638984,C,T&fts=all	A1029V	--	--	1																																		DIAPH2_uc004eft.3_Missense_Mutation_p.A1029V	1,1	1		probably_damaging(0.989)	p.A1029V	NM_006729	NP_006720		deleterious(0)	1,1	DIAP2_HUMAN	DIAPH2	HGNC	O60879	DIAP2_HUMAN					25	3482	+			UPI00001293C8	1029			Potential.		SNV	DIAPH2,missense_variant,p.Ala1029Val,ENST00000324765,;DIAPH2,missense_variant,p.Ala1029Val,ENST00000373061,NM_006729.4;DIAPH2,missense_variant,p.Ala1029Val,ENST00000355827,NM_007309.3;DIAPH2,missense_variant,p.Ala1029Val,ENST00000373049,;DIAPH2,missense_variant,p.Ala1025Val,ENST00000373054,;	uc004efu.3	c.3086C>T	3433/9333	2	2			c.3086C>T						23	SNP	c.(3085-3087)GCT>GTT	47	47			ovary(3)|lung(1)	4	Broad	diaphanous 2 isoform 156			96638984		0.313	ENSG00000147202	4440	g.chrX:96638984C>T	cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding							3.504933	KEEP	3	0	-1	18	11	3	0	-1	7.294456	18	11	0.115385	1	0	0	0	0	1	0	0	0	--	--		0	T			DIAPH2_uc004eft.3_Missense_Mutation_p.A1029V	152	GBM-14-4157-TP	p.A1029V	C	AAAGAGAAAGCTGAACAAGAA	NM_006729	NP_006720	96638984	O60879	DIAP2_HUMAN	0			25	3482	+	T	T			Missense_Mutation	1029			Potential.			
DIAPH3	81624	broad.mit.edu	GRCh37	13	60545255	60545256	+	missense_variant	Missense_Mutation	DNP	GA	GA	AT			TCGA-06-5414-01	TCGA-06-5414-01	GA	GA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400324.4:c.1689_1690delinsAT	p.Pro564Ser	p.P564S	ENST00000400324	NM_001042517.1	563	ccTCcc/ccATcc	0			1			AT	PP/PS	uc001vht.2	protein_coding	YES	CCDS41898.1			1689-1690/3582									ovary(2)	2	c.(1687-1692)CCTCCC>CCATCC			hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF198	diaphanous homolog 3 isoform a				ENSP00000383178		16/28										16/28	.		ENST00000400324	Transcript	1		actin cytoskeleton organization		actin binding|Rho GTPase binding	ENSG00000139734	g.chr13:60545255_60545256GA>AT	15480			MODERATE								--	--	1																																		DIAPH3_uc001vhu.2_Missense_Mutation_p.P301S|DIAPH3_uc001vhv.2_Missense_Mutation_p.P142S		1			p.P564S	NM_001042517	NP_001035982				DIAP3_HUMAN	DIAPH3	HGNC	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)			16	1908_1909	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	UPI0000DAC774	564			FH1.|Pro-rich.		substitution	DIAPH3,missense_variant,p.Pro564Ser,ENST00000400324,NM_001042517.1,NM_001258366.1;DIAPH3,missense_variant,p.Pro564Ser,ENST00000400330,;DIAPH3,missense_variant,p.Pro553Ser,ENST00000377908,;DIAPH3,missense_variant,p.Pro564Ser,ENST00000267215,NM_001258369.1,NM_030932.3;DIAPH3,missense_variant,p.Pro518Ser,ENST00000400320,NM_001258367.1;DIAPH3,missense_variant,p.Pro494Ser,ENST00000400319,NM_001258368.1;DIAPH3,non_coding_transcript_exon_variant,,ENST00000465066,;DIAPH3,non_coding_transcript_exon_variant,,ENST00000498416,;	uc001vht.2	c.1689_1690TC>AT	1910-1911/4804	1	1			c.1689_1690TC>AT						13	DNP	c.(1687-1692)CCTCCC>CCATCC	60	60			ovary(2)	2	Broad	diaphanous homolog 3 isoform a			60545256		0.495	ENSG00000139734	4441	g.chr13:60545255_60545256GA>AT	actin cytoskeleton organization		actin binding|Rho GTPase binding							22.994269	KEEP	0	0	-1	0	0	0	0	-1	23.255575	0	0	0.380952	1	0	0	0	0	1	0	0	0	--	--		0	AT			DIAPH3_uc001vhu.2_Missense_Mutation_p.P301S|DIAPH3_uc001vhv.2_Missense_Mutation_p.P142S	97	GBM-06-5414-TP	p.P564S	GA	TCTTTAGAGGGAGGCAAAGGAA	NM_001042517	NP_001035982	60545255	Q9NSV4	DIAP3_HUMAN	0		GBM - Glioblastoma multiforme(99;2.77e-05)	16	1908_1909	-	AT	AT		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	Missense_Mutation	564			FH1.|Pro-rich.			
DICER1	23405	broad.mit.edu	GRCh37	14	95557393	95557393	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2557-01	TCGA-06-2557-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343455.3:c.5581G>A	p.Glu1861Lys	p.E1861K	ENST00000343455	NM_177438.2	1861	Gaa/Aaa	0			1			T	E/K	uc001ydw.2	protein_coding		CCDS9931.1			5581/5769	Mis F|N			pleuropulmonary blastoma					skin(2)|ovary(1)|pancreas(1)|lung(1)	5	c.(5581-5583)GAA>AAA			PROSITE_profiles:PS50137,hmmpanther:PTHR14950,hmmpanther:PTHR14950:SF3,SMART_domains:SM00358,Superfamily_domains:SSF54768	dicer1				ENSP00000343745		26/27									COSM2152526	26/27	.	DICER_1_syndrome_|Familial_Multinodular_Goiter_	ENST00000343455	Transcript	1		negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	ENSG00000100697	g.chr14:95557393C>T	17098			MODERATE								--	--	1																																		DICER1_uc010avh.1_Missense_Mutation_p.E759K|DICER1_uc001ydv.2_Missense_Mutation_p.E1851K|DICER1_uc001ydx.2_Missense_Mutation_p.E1861K	1			probably_damaging(0.992)	p.E1861K	NM_030621	NP_085124		deleterious(0)	1	DICER_HUMAN	DICER1	HGNC	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	Q5D0K5_HUMAN,B3KMJ0_HUMAN		27	5763	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	UPI0000168662	1861			DRBM.		SNV	DICER1,stop_gained,p.Trp1806Ter,ENST00000541352,NM_001195573.1;DICER1,missense_variant,p.Glu1861Lys,ENST00000526495,;DICER1,missense_variant,p.Glu1861Lys,ENST00000343455,NM_177438.2;DICER1,missense_variant,p.Glu1861Lys,ENST00000393063,NM_030621.3;DICER1,missense_variant,p.Glu1861Lys,ENST00000527414,NM_001271282.1;DICER1,missense_variant,p.Glu759Lys,ENST00000556045,;DICER1,downstream_gene_variant,,ENST00000532939,;DICER1,non_coding_transcript_exon_variant,,ENST00000527416,;DICER1,non_coding_transcript_exon_variant,,ENST00000527554,;	uc001ydw.2	c.5581G>A	5819/10277	1	1			c.5581G>A	Mis F|N			pleuropulmonary blastoma		14	SNP	c.(5581-5583)GAA>AAA	7	7			skin(2)|ovary(1)|pancreas(1)|lung(1)	5	Broad	dicer1			95557393	DICER_1_syndrome_|Familial_Multinodular_Goiter_	0.323	ENSG00000100697	4442	g.chr14:95557393C>T	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			741			741	67.231289	KEEP	12	15	-1	40	35	12	15	-1	71.393437	40	35	0.274725	1	0	0	0	0	1	0	0	0	--	--		0	T			DICER1_uc010avh.1_Missense_Mutation_p.E759K|DICER1_uc001ydv.2_Missense_Mutation_p.E1851K|DICER1_uc001ydx.2_Missense_Mutation_p.E1861K	81	GBM-06-2557-TP	p.E1861K	C	GTTTCTGGTTCCATTTCAAGC	NM_030621	NP_085124	95557393	Q9UPY3	DICER_HUMAN	0		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	27	5763	-	T	T		all_cancers(154;0.0621)|all_epithelial(191;0.223)	Missense_Mutation	1861			DRBM.			
DICER1	23405	broad.mit.edu	GRCh37	14	95560476	95560476	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-2569-01	TCGA-06-2569-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343455.3:c.5113G>C	p.Glu1705Gln	p.E1705Q	ENST00000343455	NM_177438.2	1705	Gaa/Caa	0			1			G	E/Q	uc001ydw.2	protein_coding		CCDS9931.1			5113/5769	Mis F|N			pleuropulmonary blastoma					skin(2)|ovary(1)|pancreas(1)|lung(1)	5	c.(5113-5115)GAA>CAA			Gene3D:1.10.1520.10,Pfam_domain:PF00636,PROSITE_patterns:PS00517,PROSITE_profiles:PS50142,hmmpanther:PTHR14950,hmmpanther:PTHR14950:SF3,SMART_domains:SM00535,Superfamily_domains:SSF69065	dicer1				ENSP00000343745		24/27									COSM1371844	24/27	.	DICER_1_syndrome_|Familial_Multinodular_Goiter_	ENST00000343455	Transcript	1		negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	ENSG00000100697	g.chr14:95560476C>G	17098			MODERATE		4.34	high	getma.org/?cm=msa&ty=f&p=DICER_HUMAN&rb=1702&re=1824&var=E1705Q	getma.org/pdb.php?prot=DICER_HUMAN&from=1702&to=1824&var=E1705Q	getma.org/?cm=var&var=hg19,14,95560476,C,G&fts=all	E1705Q	--	--	1																																		DICER1_uc010avh.1_Missense_Mutation_p.E603Q|DICER1_uc001ydv.2_Missense_Mutation_p.E1695Q|DICER1_uc001ydx.2_Missense_Mutation_p.E1705Q	1			probably_damaging(0.999)	p.E1705Q	NM_030621	NP_085124		deleterious(0)	1	DICER_HUMAN	DICER1	HGNC	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	Q5D0K5_HUMAN,B3KMJ0_HUMAN		25	5295	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	UPI0000168662	1705			RNase III 2.	Magnesium or manganese 2.	SNV	DICER1,missense_variant,p.Glu1705Gln,ENST00000526495,;DICER1,missense_variant,p.Glu1705Gln,ENST00000343455,NM_177438.2;DICER1,missense_variant,p.Glu1705Gln,ENST00000393063,NM_030621.3;DICER1,missense_variant,p.Glu1705Gln,ENST00000527414,NM_001271282.1;DICER1,missense_variant,p.Glu1705Gln,ENST00000541352,NM_001195573.1;DICER1,missense_variant,p.Glu603Gln,ENST00000556045,;DICER1,downstream_gene_variant,,ENST00000532939,;DICER1,upstream_gene_variant,,ENST00000527416,;DICER1,upstream_gene_variant,,ENST00000527554,;	uc001ydw.2	c.5113G>C	5351/10277	3	3			c.5113G>C	Mis F|N			pleuropulmonary blastoma		14	SNP	c.(5113-5115)GAA>CAA	4	4			skin(2)|ovary(1)|pancreas(1)|lung(1)	5	Broad	dicer1			95560476	DICER_1_syndrome_|Familial_Multinodular_Goiter_	0.527	ENSG00000100697	4442	g.chr14:95560476C>G	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			741			741	191.161517	KEEP	33	29	-1	29	37	33	29	-1	191.231891	29	37	0.473214	1	0	0	0	0	1	0	0	0	--	--		0	G			DICER1_uc010avh.1_Missense_Mutation_p.E603Q|DICER1_uc001ydv.2_Missense_Mutation_p.E1695Q|DICER1_uc001ydx.2_Missense_Mutation_p.E1705Q	90	GBM-06-2569-TP	p.E1705Q	C	CCCAGGAATTCTAAGCGCTGG	NM_030621	NP_085124	95560476	Q9UPY3	DICER_HUMAN	0		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	25	5295	-	G	G		all_cancers(154;0.0621)|all_epithelial(191;0.223)	Missense_Mutation	1705			RNase III 2.	Magnesium or manganese 2.		
DICER1	23405	broad.mit.edu	GRCh37	14	95571502	95571519	+	inframe_deletion	In_Frame_Del	DEL	AAAGTATGCTGGGGAGAC	AAAGTATGCTGGGGAGAC	-			TCGA-06-2569-01	TCGA-06-2569-01	AAAGTATGCTGGGGAGAC	AAAGTATGCTGGGGAGAC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343455.3:c.3158_3175del	p.Cys1053_Leu1058del	p.C1053_L1058del	ENST00000343455	NM_177438.2	1053	tGTCTCCCCAGCATACTTTat/tat	0			1			-	CLPSILY/Y	uc001ydw.2	protein_coding		CCDS9931.1			3158-3175/5769	Mis F|N			pleuropulmonary blastoma					skin(2)|ovary(1)|pancreas(1)|lung(1)	5	c.(3157-3177)TGTCTCCCCAGCATACTTTAT>TAT			Pfam_domain:PF02170,hmmpanther:PTHR14950,hmmpanther:PTHR14950:SF3,SMART_domains:SM00949	dicer1				ENSP00000343745		20/27										20/27	.	DICER_1_syndrome_|Familial_Multinodular_Goiter_	ENST00000343455	Transcript	1		negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	ENSG00000100697	g.chr14:95571502_95571519delAAAGTATGCTGGGGAGAC	17098			MODERATE								--	--	1																																		DICER1_uc010avh.1_5'UTR|DICER1_uc001ydv.2_In_Frame_Del_p.CLPSIL1043del|DICER1_uc001ydx.2_In_Frame_Del_p.CLPSIL1053del|DICER1_uc001ydy.1_5'Flank					p.CLPSIL1053del	NM_030621	NP_085124				DICER_HUMAN	DICER1	HGNC	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	Q5D0K5_HUMAN,B3KMJ0_HUMAN		21	3340_3357	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	UPI0000168662	1053_1058					deletion	DICER1,inframe_deletion,p.Cys1053_Leu1058del,ENST00000526495,;DICER1,inframe_deletion,p.Cys1053_Leu1058del,ENST00000343455,NM_177438.2;DICER1,inframe_deletion,p.Cys1053_Leu1058del,ENST00000393063,NM_030621.3;DICER1,inframe_deletion,p.Cys1053_Leu1058del,ENST00000527414,NM_001271282.1;DICER1,inframe_deletion,p.Cys1053_Leu1058del,ENST00000541352,NM_001195573.1;DICER1,5_prime_UTR_variant,,ENST00000556045,;DICER1,upstream_gene_variant,,ENST00000532939,;DICER1,non_coding_transcript_exon_variant,,ENST00000554367,;DICER1,downstream_gene_variant,,ENST00000556681,;	uc001ydw.2	c.3158_3175delGTCTCCCCAGCATACTTT	3396-3413/10277	5	5			c.3158_3175delGTCTCCCCAGCATACTTT	Mis F|N			pleuropulmonary blastoma		14	DEL	c.(3157-3177)TGTCTCCCCAGCATACTTTAT>TAT	21	21			skin(2)|ovary(1)|pancreas(1)|lung(1)	5	Broad	dicer1			95571519	DICER_1_syndrome_|Familial_Multinodular_Goiter_	0.468	ENSG00000100697	4442	g.chr14:95571502_95571519delAAAGTATGCTGGGGAGAC	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity		p.S1056G(RKO-Tumor)	741		p.S1056G(RKO-Tumor)	741														0.18	1	1	0	1	0	0	0	0	0	--	--		0	-			DICER1_uc010avh.1_5'UTR|DICER1_uc001ydv.2_In_Frame_Del_p.CLPSIL1043del|DICER1_uc001ydx.2_In_Frame_Del_p.CLPSIL1053del|DICER1_uc001ydy.1_5'Flank	90	GBM-06-2569-TP	p.CLPSIL1053del	AAAGTATGCTGGGGAGAC	TGAAGGCGATAAAGTATGCTGGGGAGACAAACAGCTTT	NM_030621	NP_085124	95571502	Q9UPY3	DICER_HUMAN	0		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	21	3340_3357	-	-	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	In_Frame_Del	1053_1058						
DICER1	0	broad.mit.edu	GRCh37	14	95569923	95569923	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-1982-01	TCGA-32-1982-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343455.3:c.3810G>A	p.Val1270=	p.V1270=	ENST00000343455	NM_177438.2	1270	gtG/gtA	0			1			T	V	uc001ydw.2	protein_coding		CCDS9931.1			3810/5769	Mis F|N			pleuropulmonary blastoma					skin(2)|ovary(1)|pancreas(1)|lung(1)	5	c.(3808-3810)GTG>GTA			hmmpanther:PTHR14950,hmmpanther:PTHR14950:SF3	dicer1				ENSP00000343745		21/27									COSM3401557	21/27	.	DICER_1_syndrome_|Familial_Multinodular_Goiter_	ENST00000343455	Transcript	1		negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	ENSG00000100697	g.chr14:95569923C>T	17098			LOW								--	--	1																																		DICER1_uc010avh.1_Silent_p.V168V|DICER1_uc001ydv.2_Silent_p.V1260V|DICER1_uc001ydx.2_Silent_p.V1270V|DICER1_uc001ydy.1_Silent_p.V122V	1				p.V1270V	NM_030621	NP_085124			1	DICER_HUMAN	DICER1	HGNC	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	Q5D0K5_HUMAN,B3KMJ0_HUMAN		22	3992	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	UPI0000168662	1270					SNV	DICER1,synonymous_variant,p.=,ENST00000526495,;DICER1,synonymous_variant,p.=,ENST00000343455,NM_177438.2;DICER1,synonymous_variant,p.=,ENST00000393063,NM_030621.3;DICER1,synonymous_variant,p.=,ENST00000527414,NM_001271282.1;DICER1,synonymous_variant,p.=,ENST00000541352,NM_001195573.1;DICER1,synonymous_variant,p.=,ENST00000556045,;DICER1,upstream_gene_variant,,ENST00000532939,;DICER1,downstream_gene_variant,,ENST00000554367,;DICER1,downstream_gene_variant,,ENST00000556681,;	uc001ydw.2	c.3810G>A	4048/10277	1	1			c.3810G>A	Mis F|N			pleuropulmonary blastoma		14	SNP	c.(3808-3810)GTG>GTA	1	1			skin(2)|ovary(1)|pancreas(1)|lung(1)	5	Broad	dicer1			95569923	DICER_1_syndrome_|Familial_Multinodular_Goiter_	0.468	ENSG00000100697	4442	g.chr14:95569923C>T	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			741			741	-29.40341	KEEP	3	3	-1	102	92	3	3	-1	8.274095	102	92	0.037037	1	0	0	0	0	0	0	1	0	--	--		0	T			DICER1_uc010avh.1_Silent_p.V168V|DICER1_uc001ydv.2_Silent_p.V1260V|DICER1_uc001ydx.2_Silent_p.V1270V|DICER1_uc001ydy.1_Silent_p.V122V	232	GBM-32-1982-TP	p.V1270V	C	TGCCCTTGAGCACTTGAATAG	NM_030621	NP_085124	95569923	Q9UPY3	DICER_HUMAN	0		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	22	3992	-	T	T		all_cancers(154;0.0621)|all_epithelial(191;0.223)	Silent	1270						
DICER1	0	broad.mit.edu	GRCh37	14	95590756	95590756	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01	TCGA-41-3393-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343455.3:c.1153C>T	p.Arg385Cys	p.R385C	ENST00000343455	NM_177438.2	385	Cgc/Tgc	0			1			A	R/C	uc001ydw.2	protein_coding		CCDS9931.1			1153/5769	Mis F|N			pleuropulmonary blastoma					skin(2)|ovary(1)|pancreas(1)|lung(1)	5	c.(1153-1155)CGC>TGC			hmmpanther:PTHR14950,hmmpanther:PTHR14950:SF3	dicer1				ENSP00000343745		27-Aug	8.24E-06			0.000116					rs746886465,COSM1300937	27-Aug	.	DICER_1_syndrome_|Familial_Multinodular_Goiter_	ENST00000343455	Transcript	1		negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	ENSG00000100697	g.chr14:95590756G>A	17098			MODERATE		1.795	low	getma.org/?cm=msa&ty=f&p=DICER_HUMAN&rb=214&re=413&var=R385C	NA	getma.org/?cm=var&var=hg19,14,95590756,G,A&fts=all	R385C	--	--	1																																		DICER1_uc001ydv.2_Missense_Mutation_p.R375C|DICER1_uc001ydx.2_Missense_Mutation_p.R385C	0,1			possibly_damaging(0.855)	p.R385C	NM_030621	NP_085124		deleterious(0)	0,1	DICER_HUMAN	DICER1	HGNC	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	Q5D0K5_HUMAN,B3KMJ0_HUMAN		9	1335	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	UPI0000168662	385			Required for interaction with PRKRA and TARBP2.		SNV	DICER1,missense_variant,p.Arg385Cys,ENST00000526495,;DICER1,missense_variant,p.Arg385Cys,ENST00000343455,NM_177438.2;DICER1,missense_variant,p.Arg385Cys,ENST00000393063,NM_030621.3;DICER1,missense_variant,p.Arg385Cys,ENST00000527414,NM_001271282.1;DICER1,missense_variant,p.Arg385Cys,ENST00000541352,NM_001195573.1;DICER1,upstream_gene_variant,,ENST00000532458,;DICER1,downstream_gene_variant,,ENST00000529206,;	uc001ydw.2	c.1153C>T	1391/10277	2	2			c.1153C>T	Mis F|N			pleuropulmonary blastoma		14	SNP	c.(1153-1155)CGC>TGC	30	30			skin(2)|ovary(1)|pancreas(1)|lung(1)	5	Broad	dicer1			95590756	DICER_1_syndrome_|Familial_Multinodular_Goiter_	0.378	ENSG00000100697	4442	g.chr14:95590756G>A	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			741			741	-78.723438	KEEP	2	3	-1	177	170	2	3	-1	7.308308	177	170	0.01548	1	0	0	0	0	1	0	0	0	--	--		0	A			DICER1_uc001ydv.2_Missense_Mutation_p.R375C|DICER1_uc001ydx.2_Missense_Mutation_p.R385C	255	GBM-41-3393-TP	p.R385C	G	TTATATTTGCGTAAGATTTCG	NM_030621	NP_085124	95590756	Q9UPY3	DICER_HUMAN	0		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	9	1335	-	A	A		all_cancers(154;0.0621)|all_epithelial(191;0.223)	Missense_Mutation	385			Required for interaction with PRKRA and TARBP2.			
DIDO1	11083	broad.mit.edu	GRCh37	20	61542712	61542712	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs138139875		TCGA-06-0877-01	TCGA-06-0877-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266070.4:c.253G>A	p.Gly85Ser	p.G85S	ENST00000266070	NM_033081.2	85	Ggc/Agc	0	T:0		1			T	G/S	uc002ydr.1	protein_coding	YES	CCDS33506.1			253/6723									ovary(3)|skin(3)	6	c.(253-255)GGC>AGC			hmmpanther:PTHR14914:SF7,hmmpanther:PTHR14914	death inducer-obliterator 1 isoform c			T:0.0001	ENSP00000266070		16-Mar	2.47E-05		8.82E-05	0.000119		1.59E-05			rs138139875,COSM2152146,COSM2152148,COSM2152147,COSM3405267	16-Mar	.		ENST00000266070	Transcript			apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	ENSG00000101191	g.chr20:61542712C>T	2680			MODERATE		1.89	low	getma.org/?cm=msa&ty=f&p=DIDO1_HUMAN&rb=1&re=258&var=G85S	NA	getma.org/?cm=var&var=hg19,20,61542712,C,T&fts=all	G85S	--	--	1																																		DIDO1_uc002yds.1_Missense_Mutation_p.G85S|DIDO1_uc002ydt.1_Missense_Mutation_p.G85S|DIDO1_uc002ydu.1_Missense_Mutation_p.G85S|DIDO1_uc002ydv.1_Missense_Mutation_p.G85S|DIDO1_uc002ydw.1_Missense_Mutation_p.G85S|DIDO1_uc002ydx.1_Missense_Mutation_p.G85S|DIDO1_uc011aao.1_Missense_Mutation_p.G85S	0,1,1,1,1	1		probably_damaging(1)	p.G85S	NM_033081	NP_149072			0,1,1,1,1	DIDO1_HUMAN	DIDO1	HGNC	Q9BTC0	DIDO1_HUMAN					3	517	-	Breast(26;5.68e-08)		UPI0000206380	85					SNV	DIDO1,missense_variant,p.Gly85Ser,ENST00000266070,NM_033081.2;DIDO1,missense_variant,p.Gly85Ser,ENST00000395343,NM_001193369.1;DIDO1,missense_variant,p.Gly85Ser,ENST00000395335,NM_080797.3;DIDO1,missense_variant,p.Gly85Ser,ENST00000395340,NM_001193370.1;DIDO1,missense_variant,p.Gly85Ser,ENST00000370371,NM_022105.4;DIDO1,missense_variant,p.Gly85Ser,ENST00000354665,NM_080796.3;DIDO1,missense_variant,p.Gly85Ser,ENST00000370368,;DIDO1,missense_variant,p.Gly85Ser,ENST00000370366,;DIDO1,missense_variant,p.Gly85Ser,ENST00000266071,;	uc002ydr.1	c.253G>A	579/8544	2	2			c.253G>A						20	SNP	c.(253-255)GGC>AGC	35	35			ovary(3)|skin(3)	6	Broad	death inducer-obliterator 1 isoform c			61542712		0.701	ENSG00000101191	4443	g.chr20:61542712C>T	apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)			Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)			40.93563	KEEP	6	12	-1	35	40	6	12	-1	46.080202	35	40	0.226667	1	0	0	0	0	1	0	0	0	--	--		0	T			DIDO1_uc002yds.1_Missense_Mutation_p.G85S|DIDO1_uc002ydt.1_Missense_Mutation_p.G85S|DIDO1_uc002ydu.1_Missense_Mutation_p.G85S|DIDO1_uc002ydv.1_Missense_Mutation_p.G85S|DIDO1_uc002ydw.1_Missense_Mutation_p.G85S|DIDO1_uc002ydx.1_Missense_Mutation_p.G85S|DIDO1_uc011aao.1_Missense_Mutation_p.G85S	73	GBM-06-0877-TP	p.G85S	C	CTCCTCCTGCCGCGGCGCCGC	NM_033081	NP_149072	61542712	Q9BTC0	DIDO1_HUMAN	0			3	517	-	T	T	Breast(26;5.68e-08)		Missense_Mutation	85						
DIDO1	0	broad.mit.edu	GRCh37	20	61511189	61511189	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs143474883		TCGA-41-3393-01	TCGA-41-3393-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266070.4:c.6119G>A	p.Arg2040His	p.R2040H	ENST00000266070	NM_033081.2	2040	cGc/cAc	0	T:0		1			T	R/H	uc002ydr.1	protein_coding	YES	CCDS33506.1			6119/6723									ovary(3)|skin(3)	6	c.(6118-6120)CGC>CAC			hmmpanther:PTHR14914:SF7,hmmpanther:PTHR14914	death inducer-obliterator 1 isoform c			T:0.0001	ENSP00000266070		16/16	3.38E-05		0.000177			3.34E-05			rs143474883,COSM2931066	16/16	.		ENST00000266070	Transcript			apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	ENSG00000101191	g.chr20:61511189C>T	2680			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=DIDO1_HUMAN&rb=1964&re=2163&var=R2040H	NA	getma.org/?cm=var&var=hg19,20,61511189,C,T&fts=all	R2040H	--	--	1																																		DIDO1_uc002yds.1_Missense_Mutation_p.R2040H	0,1	1		probably_damaging(0.997)	p.R2040H	NM_033081	NP_149072			0,1	DIDO1_HUMAN	DIDO1	HGNC	Q9BTC0	DIDO1_HUMAN					16	6383	-	Breast(26;5.68e-08)		UPI0000206380	2040					SNV	DIDO1,missense_variant,p.Arg2040His,ENST00000266070,NM_033081.2;DIDO1,missense_variant,p.Arg2040His,ENST00000395343,NM_001193369.1;	uc002ydr.1	c.6119G>A	6445/8544	1	1			c.6119G>A						20	SNP	c.(6118-6120)CGC>CAC	3	3			ovary(3)|skin(3)	6	Broad	death inducer-obliterator 1 isoform c			61511189		0.741	ENSG00000101191	4443	g.chr20:61511189C>T	apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)			Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)			82.045443	KEEP	17	24	-1	63	75	17	24	-1	92.577526	63	75	0.229299	1	0	0	0	0	1	0	0	0	--	--		0	T			DIDO1_uc002yds.1_Missense_Mutation_p.R2040H	255	GBM-41-3393-TP	p.R2040H	C	CTCCTCCCAGCGGTCCTTCCG	NM_033081	NP_149072	61511189	Q9BTC0	DIDO1_HUMAN	0			16	6383	-	T	T	Breast(26;5.68e-08)		Missense_Mutation	2040						
DIEXF	0	broad.mit.edu	GRCh37	1	210008454	210008454	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0192-01	TCGA-06-0192-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000491415.2:c.597A>G	p.Lys199=	p.K199=	ENST00000491415	NM_014388.6	199	aaA/aaG	0			1			G	K	uc001hhr.1	protein_coding	YES	CCDS1493.1			597/2271										0	c.(595-597)AAA>AAG			hmmpanther:PTHR12933	digestive-organ expansion factor homolog				ENSP00000419005		12-May									COSM2150652	12-May	.		ENST00000491415	Transcript			multicellular organismal development	nucleus		ENSG00000117597	g.chr1:210008454A>G	28440			LOW								--	--	1																																		C1orf107_uc009xcu.1_5'UTR	1	1			p.K199K	NM_014388	NP_055203			1	DIEXF_HUMAN	DIEXF	HGNC	Q68CQ4	DIEXF_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0367)	B3KVX2_HUMAN		5	673	+			UPI000006D987	199					SNV	DIEXF,synonymous_variant,p.=,ENST00000491415,NM_014388.6;DIEXF,upstream_gene_variant,,ENST00000457820,;	uc001hhr.1	c.597A>G	654/8446	3	3			c.597A>G						1	SNP	c.(595-597)AAA>AAG	7	7				0	Broad	digestive-organ expansion factor homolog			210008454		0.403	ENSG00000117597	1938	g.chr1:210008454A>G	multicellular organismal development	nucleus								65.931031	KEEP	9	14	-1	48	27	9	14	-1	71.602356	48	27	0.235955	1	0	0	0	0	0	0	1	0	--	--		0	G			C1orf107_uc009xcu.1_5'UTR	44	GBM-06-0192-TP	p.K199K	A	AAGAACTGAAAGAAAAAGCAA	NM_014388	NP_055203	210008454	Q68CQ4	DIEXF_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0367)	5	673	+	G	G			Silent	199						
DIEXF	0	broad.mit.edu	GRCh37	1	210001468	210001468	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-27-2523-01	TCGA-27-2523-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000491415.2:c.60G>C	p.Gln20His	p.Q20H	ENST00000491415	NM_014388.6	20	caG/caC	0			1			C	Q/H	uc001hhr.1	protein_coding	YES	CCDS1493.1			60/2271										0	c.(58-60)CAG>CAC			Low_complexity_(Seg):seg,hmmpanther:PTHR12933	digestive-organ expansion factor homolog				ENSP00000419005		12-Jan									COSM3400273	12-Jan	.		ENST00000491415	Transcript			multicellular organismal development	nucleus		ENSG00000117597	g.chr1:210001468G>C	28440			MODERATE		2.085	medium	getma.org/?cm=msa&ty=f&p=DIEXF_HUMAN&rb=1&re=179&var=Q20H	NA	getma.org/?cm=var&var=hg19,1,210001468,G,C&fts=all	Q20H	--	--	1																																OREG0014221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C1orf107_uc009xcu.1_5'UTR	1	1		probably_damaging(0.987)	p.Q20H	NM_014388	NP_055203		deleterious_low_confidence(0)	1	DIEXF_HUMAN	DIEXF	HGNC	Q68CQ4	DIEXF_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0367)	B3KVX2_HUMAN		1	136	+			UPI000006D987	20					SNV	DIEXF,missense_variant,p.Gln20His,ENST00000491415,NM_014388.6;	uc001hhr.1	c.60G>C	117/8446	3	3			c.60G>C						1	SNP	c.(58-60)CAG>CAC	61	61				0	Broad	digestive-organ expansion factor homolog			210001468		0.547	ENSG00000117597	1938	g.chr1:210001468G>C	multicellular organismal development	nucleus								184.691161	KEEP	40	20	-1	39	38	40	20	-1	184.881915	39	38	0.45614	1	0	0	0	0	1	0	0	0	--	--		0	C	OREG0014221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C1orf107_uc009xcu.1_5'UTR	201	GBM-27-2523-TP	p.Q20H	G	CTAAAAAGCAGAAGAAACATC	NM_014388	NP_055203	210001468	Q68CQ4	DIEXF_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0367)	1	136	+	C	C			Missense_Mutation	20						
DIEXF	0	broad.mit.edu	GRCh37	1	210001493	210001493	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-27-2523-01	TCGA-27-2523-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000491415.2:c.85G>T	p.Glu29Ter	p.E29*	ENST00000491415	NM_014388.6	29	Gag/Tag	0			1			T	E/*	uc001hhr.1	protein_coding	YES	CCDS1493.1			85/2271										0	c.(85-87)GAG>TAG			hmmpanther:PTHR12933	digestive-organ expansion factor homolog				ENSP00000419005		12-Jan									COSM3400274	12-Jan	.		ENST00000491415	Transcript			multicellular organismal development	nucleus		ENSG00000117597	g.chr1:210001493G>T	28440			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,210001493,G,T&fts=all	E29*	--	--	1																																OREG0014221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C1orf107_uc009xcu.1_5'UTR	1	1			p.E29*	NM_014388	NP_055203			1	DIEXF_HUMAN	DIEXF	HGNC	Q68CQ4	DIEXF_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0367)	B3KVX2_HUMAN		1	161	+			UPI000006D987	29					SNV	DIEXF,stop_gained,p.Glu29Ter,ENST00000491415,NM_014388.6;	uc001hhr.1	c.85G>T	142/8446	5	1			c.85G>T						1	SNP	c.(85-87)GAG>TAG	11	11				0	Broad	digestive-organ expansion factor homolog			210001493		0.547	ENSG00000117597	1938	g.chr1:210001493G>T	multicellular organismal development	nucleus								101.687514	KEEP	21	16	0.567567568	15	28	21	16	0.567567568	101.758613	15	28	0.467532	1	0	0	0	0	0	1	0	0	--	--		0	T	OREG0014221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C1orf107_uc009xcu.1_5'UTR	201	GBM-27-2523-TP	p.E29*	G	AGATTTCGGCGAGGAGCATCC	NM_014388	NP_055203	210001493	Q68CQ4	DIEXF_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0367)	1	161	+	T	T			Nonsense_Mutation	29						
DIMT1	27292	broad.mit.edu	GRCh37	5	61686705	61686705	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0152-01	TCGA-06-0152-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000199320.4:c.897del	p.Arg300AspfsTer29	p.R300Dfs*29	ENST00000199320	NM_014473.2	299	atC/at	0			1			-	I/X	uc003jta.2	protein_coding	YES	CCDS3981.1			897/942									central_nervous_system(1)	1	c.(895-897)ATCfs			PROSITE_profiles:PS51689,hmmpanther:PTHR11727,TIGRFAM_domain:TIGR00755,Superfamily_domains:SSF53335	dimethyladenosine transferase				ENSP00000199320		12-Nov									COSM2149863	12-Nov	.		ENST00000199320	Transcript				nucleolus	RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity	ENSG00000086189	g.chr5:61686705delG	30217			HIGH								--	--	1																																			1	1			p.I299fs	NM_014473	NP_055288			1	DIM1_HUMAN	DIMT1	HGNC	Q9UNQ2	DIMT1_HUMAN		Lung(70;0.122)	B4DRY2_HUMAN		11	1026	-		Lung NSC(810;8.94e-06)|Prostate(74;0.0235)|Ovarian(174;0.051)|Breast(144;0.077)	UPI00001293E2	299	Missing (in Ref. 2; AAH02841).				deletion	DIMT1,frameshift_variant,p.Arg300AspfsTer29,ENST00000199320,NM_014473.2;KIF2A,downstream_gene_variant,,ENST00000381103,NM_001243952.1;DIMT1,downstream_gene_variant,,ENST00000506390,;KIF2A,intron_variant,,ENST00000509663,;DIMT1,splice_region_variant,,ENST00000514605,;DIMT1,downstream_gene_variant,,ENST00000514911,;DIMT1,downstream_gene_variant,,ENST00000509182,;	uc003jta.2	c.897delC	1058/2859	5	5			c.897delC						5	DEL	c.(895-897)ATCfs	61	61			central_nervous_system(1)	1	Broad	dimethyladenosine transferase			61686705		0.383	ENSG00000086189	4444	g.chr5:61686705delG		nucleolus	RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity																				0.38	1	1	0	1	0	0	0	0	0	--	--		0	-				25	GBM-06-0152-TP	p.I299fs	G	GTAATTACCTGATGAAGTCAT	NM_014473	NP_055288	61686705	Q9UNQ2	DIMT1_HUMAN	0		Lung(70;0.122)	11	1026	-	-	-		Lung NSC(810;8.94e-06)|Prostate(74;0.0235)|Ovarian(174;0.051)|Breast(144;0.077)	Frame_Shift_Del	299	Missing (in Ref. 2; AAH02841).					
DIO3	0	broad.mit.edu	GRCh37	14	102028607	102028607	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-1829-01	TCGA-14-1829-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000510508.4:c.774C>T	p.Phe258=	p.F258=	ENST00000510508		258	ttC/ttT	0	T:0.0012	T:0.0015	1	T:0		T	F	uc010txq.1	protein_coding	YES	CCDS41992.2			774/915									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(694-696)TTC>TTT			hmmpanther:PTHR11781,hmmpanther:PTHR11781:SF4,Pfam_domain:PF00837,PIRSF_domain:PIRSF500144,PIRSF_domain:PIRSF001330	deiodinase, iodothyronine, type III		T:0	T:0	ENSP00000427336	T:0	1-Jan	0.000165	0.00205							rs186983663,COSM3401118,COSM3401117	1-Jan	common_variant		ENST00000510508	Transcript		T:0.0004	cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	ENSG00000197406	g.chr14:102028607C>T	2885			LOW								--	--	1																																		DIO3OS_uc001ykd.1_5'Flank|uc001yke.2_5'Flank|uc001ykf.2_5'Flank|uc001ykg.2_5'Flank|uc001ykh.3_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank	0,1,1	1			p.F232F	NM_001362	NP_001353	T:0		0,1,1		DIO3	HGNC	P55073	IOD3_HUMAN			Q86TU3_HUMAN		2	920	+		all_neural(303;0.185)	UPI0001B1A4B2	232			Extracellular (Potential).		SNV	DIO3,synonymous_variant,p.=,ENST00000359323,NM_001362.3;DIO3,synonymous_variant,p.=,ENST00000510508,;DIO3OS,upstream_gene_variant,,ENST00000554735,;DIO3OS,upstream_gene_variant,,ENST00000557661,;DIO3OS,upstream_gene_variant,,ENST00000555174,;DIO3OS,upstream_gene_variant,,ENST00000554441,;DIO3OS,upstream_gene_variant,,ENST00000554694,;DIO3OS,upstream_gene_variant,,ENST00000555882,;DIO3OS,upstream_gene_variant,,ENST00000557532,;DIO3OS,upstream_gene_variant,,ENST00000557109,;DIO3OS,upstream_gene_variant,,ENST00000553729,;DIO3OS,upstream_gene_variant,,ENST00000556266,;DIO3OS,upstream_gene_variant,,ENST00000408206,;	uc010txq.1	c.696C>T	920/2102	2	2			c.696C>T						14	SNP	c.(694-696)TTC>TTT	32	32			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	deiodinase, iodothyronine, type III			102028607		0.632	ENSG00000197406	4447	g.chr14:102028607C>T	cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity							34.01453	KEEP	11	9	-1	39	51	11	9	-1	44.316522	39	51	0.17	1	0	0	0	0	0	0	1	0	--	--		0	T			DIO3OS_uc001ykd.1_5'Flank|uc001yke.2_5'Flank|uc001ykf.2_5'Flank|uc001ykg.2_5'Flank|uc001ykh.3_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank	149	GBM-14-1829-TP	p.F232F	C	GCGCCTACTTCGAGCGTCTCT	NM_001362	NP_001353	102028607	P55073	IOD3_HUMAN	0			2	920	+	T	T		all_neural(303;0.185)	Silent	232			Extracellular (Potential).			
DIP2B	0	broad.mit.edu	GRCh37	12	51102260	51102260	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-41-3915-01	TCGA-41-3915-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301180.5:c.2564A>G	p.Tyr855Cys	p.Y855C	ENST00000301180	NM_173602.2	855	tAt/tGt	0			1			G	Y/C	uc001rwv.2	protein_coding	YES	CCDS31799.1			2564/4731									ovary(4)|breast(1)|pancreas(1)	6	c.(2563-2565)TAT>TGT			hmmpanther:PTHR22754:SF22,hmmpanther:PTHR22754,Superfamily_domains:SSF56801	DIP2 disco-interacting protein 2 homolog B				ENSP00000301180		22/38									COSM3398793	22/38	.		ENST00000301180	Transcript				nucleus	catalytic activity|transcription factor binding	ENSG00000066084	g.chr12:51102260A>G	29284			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=DIP2B_HUMAN&rb=843&re=1021&var=Y855C	NA	getma.org/?cm=var&var=hg19,12,51102260,A,G&fts=all	Y855C	--	--	1																																		DIP2B_uc009zlt.2_Missense_Mutation_p.Y285C	1	1		possibly_damaging(0.865)	p.Y855C	NM_173602	NP_775873		deleterious(0.01)	1	DIP2B_HUMAN	DIP2B	HGNC	Q9P265	DIP2B_HUMAN			Q96IB4_HUMAN		22	2720	+			UPI0000406CA1	855					SNV	DIP2B,missense_variant,p.Tyr855Cys,ENST00000301180,NM_173602.2;DIP2B,3_prime_UTR_variant,,ENST00000546732,;	uc001rwv.2	c.2564A>G	2598/8593	3	3			c.2564A>G						12	SNP	c.(2563-2565)TAT>TGT	13	13			ovary(4)|breast(1)|pancreas(1)	6	Broad	DIP2 disco-interacting protein 2 homolog B			51102260		0.448	ENSG00000066084	4449	g.chr12:51102260A>G		nucleus	catalytic activity|transcription factor binding							1.344625	KEEP	0	2	-1	15	21	0	2	-1	6.89524	15	21	0.068966	1	0	0	0	0	1	0	0	0	--	--		0	G			DIP2B_uc009zlt.2_Missense_Mutation_p.Y285C	256	GBM-41-3915-TP	p.Y855C	A	TCTGTATTTTATGATGAGCGC	NM_173602	NP_775873	51102260	Q9P265	DIP2B_HUMAN	0			22	2720	+	G	G			Missense_Mutation	855						
DIP2C	22982		GRCh37	10	395316	395316	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000280886.6:c.3064G>A	p.Gly1022Ser	p.G1022S	ENST00000280886	NM_014974.2	1022	Ggc/Agc	0																																																																																																																																																																																																																																												
DIRAS3	0	broad.mit.edu	GRCh37	1	68512685	68512685	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-12-0692-01	TCGA-12-0692-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370981.1:c.296G>C	p.Arg99Pro	p.R99P	ENST00000370981		99	cGc/cCc	0			1			G	R/P	uc001ded.2	protein_coding	YES	CCDS641.1			296/690									skin(1)	1	c.(295-297)CGC>CCC			Gene3D:3.40.50.300,Pfam_domain:PF00071,PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF202,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231	DIRAS family, GTP-binding RAS-like 3				ENSP00000360020		4-Apr									COSM3400980	4-Apr	.		ENST00000370981	Transcript			regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	ENSG00000162595	g.chr1:68512685C>G	687			MODERATE		-1	neutral	getma.org/?cm=msa&ty=f&p=DIRA3_HUMAN&rb=39&re=201&var=R99P	getma.org/pdb.php?prot=DIRA3_HUMAN&from=39&to=201&var=R99P	getma.org/?cm=var&var=hg19,1,68512685,C,G&fts=all	R99P	--	--	1																																		uc001deb.1_Intron|uc001dec.1_Intron	1	1		benign(0.001)	p.R99P	NM_004675	NP_004666		tolerated(1)	1	DIRA3_HUMAN	DIRAS3	HGNC	O95661	DIRA3_HUMAN					2	591	-			UPI0000133893	99					SNV	DIRAS3,missense_variant,p.Arg99Pro,ENST00000370981,;DIRAS3,missense_variant,p.Arg99Pro,ENST00000395201,NM_004675.2;GNG12-AS1,intron_variant,,ENST00000420587,;GNG12-AS1,intron_variant,,ENST00000413628,;RP4-609E1.2,downstream_gene_variant,,ENST00000435784,;ARL5AP3,downstream_gene_variant,,ENST00000439327,;	uc001ded.2	c.296G>C	933/1973	3	3			c.296G>C						1	SNP	c.(295-297)CGC>CCC	1	1			skin(1)	1	Broad	DIRAS family, GTP-binding RAS-like 3			68512685		0.587	ENSG00000162595	4453	g.chr1:68512685C>G	regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity							-72.099939	KEEP	5	1	-1	180	148	5	1	-1	8.173255	180	148	0.016447	1	0	0	0	0	1	0	0	0	--	--		0	G			uc001deb.1_Intron|uc001dec.1_Intron	122	GBM-12-0692-TP	p.R99P	C	CTGCAGAGCGCGGTTGCCGTC	NM_004675	NP_004666	68512685	O95661	DIRA3_HUMAN	0			2	591	-	G	G			Missense_Mutation	99						
DIS3	22894	broad.mit.edu	GRCh37	13	73336102	73336102	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-02-0047-01	TCGA-02-0047-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377767.4:c.2301A>T	p.Leu767Phe	p.L767F	ENST00000377767	NM_014953.3	767	ttA/ttT	0			1			A	L/F	uc001vix.3	protein_coding	YES	CCDS9447.1			2301/2877									central_nervous_system(1)	1	c.(2299-2301)TTA>TTT			Superfamily_domains:SSF50249,SMART_domains:SM00955,Pfam_domain:PF00773,PROSITE_patterns:PS01175,hmmpanther:PTHR23355,hmmpanther:PTHR23355:SF35	DIS3 mitotic control isoform a				ENSP00000366997		17/21									COSM2148994	17/21	.		ENST00000377767	Transcript			CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	ENSG00000083520	g.chr13:73336102T>A	20604			MODERATE		4.765	high	getma.org/?cm=msa&ty=f&p=RRP44_HUMAN&rb=467&re=796&var=L767F	getma.org/pdb.php?prot=RRP44_HUMAN&from=467&to=796&var=L767F	getma.org/?cm=var&var=hg19,13,73336102,T,A&fts=all	L767F	--	--	1				Multiple Myeloma(4;0.011)																														DIS3_uc001viy.3_Missense_Mutation_p.L737F|DIS3_uc001viz.2_RNA	1	1		probably_damaging(1)	p.L767F	NM_014953	NP_055768		deleterious(0)	1	RRP44_HUMAN	DIS3	HGNC	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	G3V1J5_HUMAN,B3KM83_HUMAN		17	2675	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	UPI0000141B79	767					SNV	DIS3,missense_variant,p.Leu767Phe,ENST00000377767,NM_014953.3;DIS3,missense_variant,p.Leu737Phe,ENST00000377780,NM_001128226.1;DIS3,missense_variant,p.Leu605Phe,ENST00000545453,;DIS3,intron_variant,,ENST00000469339,;DIS3,3_prime_UTR_variant,,ENST00000490646,;	uc001vix.3	c.2301A>T	2402/7371	1	1			c.2301A>T						13	SNP	c.(2299-2301)TTA>TTT	64	64			central_nervous_system(1)	1	Broad	DIS3 mitotic control isoform a			73336102		0.328	ENSG00000083520	4456	g.chr13:73336102T>A	CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding							168.176041	KEEP	28	36	-1	37	53	28	36	-1	169.100531	37	53	0.411765	1	0	0	0	0	1	0	0	0	--	--	Multiple Myeloma(4;0.011)	0	A			DIS3_uc001viy.3_Missense_Mutation_p.L737F|DIS3_uc001viz.2_RNA	3	GBM-02-0047-TP	p.L767F	T	TTGGAGACGCTAAGCCATAGT	NM_014953	NP_055768	73336102	Q9Y2L1	RRP44_HUMAN	0		GBM - Glioblastoma multiforme(99;0.000181)	17	2675	-	A	A		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	Missense_Mutation	767						
DIS3	22894	broad.mit.edu	GRCh37	13	73355005	73355005	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0216-01	TCGA-06-0216-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377767.4:c.365C>T	p.Thr122Ile	p.T122I	ENST00000377767	NM_014953.3	122	aCt/aTt	0			1			A	T/I	uc001vix.3	protein_coding	YES	CCDS9447.1			365/2877									central_nervous_system(1)	1	c.(364-366)ACT>ATT			Superfamily_domains:SSF88723,SMART_domains:SM00670,Pfam_domain:PF13638,Gene3D:3.40.50.1010,hmmpanther:PTHR23355,hmmpanther:PTHR23355:SF35	DIS3 mitotic control isoform a				ENSP00000366997		21-Feb									COSM2150932	21-Feb	.		ENST00000377767	Transcript			CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	ENSG00000083520	g.chr13:73355005G>A	20604			MODERATE		1.63	low	getma.org/?cm=msa&ty=f&p=RRP44_HUMAN&rb=66&re=195&var=T122I	getma.org/pdb.php?prot=RRP44_HUMAN&from=66&to=195&var=T122I	getma.org/?cm=var&var=hg19,13,73355005,G,A&fts=all	T122I	--	--	1				Multiple Myeloma(4;0.011)																														PIBF1_uc001vja.1_5'Flank|PIBF1_uc010aeo.1_5'Flank|PIBF1_uc001vjb.2_5'Flank|PIBF1_uc001vjc.2_5'Flank|PIBF1_uc010aep.2_5'Flank|DIS3_uc001viy.3_Intron|DIS3_uc001viz.2_RNA	1	1		benign(0.023)	p.T122I	NM_014953	NP_055768		deleterious(0.05)	1	RRP44_HUMAN	DIS3	HGNC	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	G3V1J5_HUMAN,B3KM83_HUMAN		2	739	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	UPI0000141B79	122			PINc.		SNV	DIS3,missense_variant,p.Thr122Ile,ENST00000377767,NM_014953.3;DIS3,5_prime_UTR_variant,,ENST00000545453,;DIS3,intron_variant,,ENST00000377780,NM_001128226.1;PIBF1,upstream_gene_variant,,ENST00000326291,NM_006346.2;DIS3,non_coding_transcript_exon_variant,,ENST00000475871,;PIBF1,upstream_gene_variant,,ENST00000489797,;DIS3,missense_variant,p.Thr122Ile,ENST00000490646,;	uc001vix.3	c.365C>T	466/7371	2	2			c.365C>T						13	SNP	c.(364-366)ACT>ATT	24	24			central_nervous_system(1)	1	Broad	DIS3 mitotic control isoform a			73355005		0.388	ENSG00000083520	4456	g.chr13:73355005G>A	CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding							243.079372	KEEP	47	40	-1	46	28	47	40	-1	243.174542	46	28	0.527397	1	0	0	0	0	1	0	0	0	--	--	Multiple Myeloma(4;0.011)	0	A			PIBF1_uc001vja.1_5'Flank|PIBF1_uc010aeo.1_5'Flank|PIBF1_uc001vjb.2_5'Flank|PIBF1_uc001vjc.2_5'Flank|PIBF1_uc010aep.2_5'Flank|DIS3_uc001viy.3_Intron|DIS3_uc001viz.2_RNA	51	GBM-06-0216-TP	p.T122I	G	ATTAGTGAAAGTATAGAAATG	NM_014953	NP_055768	73355005	Q9Y2L1	RRP44_HUMAN	0		GBM - Glioblastoma multiforme(99;0.000181)	2	739	-	A	A		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	Missense_Mutation	122			PINc.			
DIS3L2	129563	broad.mit.edu	GRCh37	2	233028324	233028324	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0195-01	TCGA-06-0195-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325385.7:c.1106G>T	p.Ser369Ile	p.S369I	ENST00000325385	NM_152383.4	369	aGc/aTc	0			1			T	S/I	uc010fxz.2	protein_coding	YES	CCDS42834.1			1106/2658									ovary(1)|breast(1)|central_nervous_system(1)	3	c.(1105-1107)AGC>ATC			HAMAP:MF_03045,hmmpanther:PTHR23355,hmmpanther:PTHR23355:SF9,Superfamily_domains:SSF50249	DIS3 mitotic control homolog (S.				ENSP00000315569		21-Sep									COSM3407655,COSM3407656	21-Sep	.		ENST00000325385	Transcript	1				exonuclease activity|ribonuclease activity|RNA binding	ENSG00000144535	g.chr2:233028324G>T	28648			MODERATE		1.525	low	getma.org/?cm=msa&ty=f&p=DI3L2_HUMAN&rb=201&re=370&var=S369I	getma.org/pdb.php?prot=DI3L2_HUMAN&from=201&to=370&var=S369I	getma.org/?cm=var&var=hg19,2,233028324,G,T&fts=all	S369I	--	--	1																																		DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA	1,1	1		benign(0.14)	p.S369I	NM_152383	NP_689596		tolerated(0.06)	1,1	DI3L2_HUMAN	DIS3L2	HGNC	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	H7C440_HUMAN,C9JGP4_HUMAN		9	1382	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	UPI000004BF03	369					SNV	DIS3L2,missense_variant,p.Ser369Ile,ENST00000325385,NM_152383.4;DIS3L2,missense_variant,p.Ser369Ile,ENST00000273009,NM_001257281.1;DIS3L2,missense_variant,p.Ser369Ile,ENST00000409307,;DIS3L2,missense_variant,p.Ser4Ile,ENST00000424049,;DIS3L2,downstream_gene_variant,,ENST00000360410,;DIS3L2,missense_variant,p.Ser369Ile,ENST00000390005,;DIS3L2,3_prime_UTR_variant,,ENST00000433430,;DIS3L2,3_prime_UTR_variant,,ENST00000445090,;	uc010fxz.2	c.1106G>T	1382/3501	2	2			c.1106G>T						2	SNP	c.(1105-1107)AGC>ATC	27	27			ovary(1)|breast(1)|central_nervous_system(1)	3	Broad	DIS3 mitotic control homolog (S.			233028324		0.433	ENSG00000144535	4458	g.chr2:233028324G>T			exonuclease activity|ribonuclease activity|RNA binding							77.723317	KEEP	14	15	0.482758621	25	13	14	15	0.482758621	77.906848	25	13	0.440678	1	0	0	0	0	1	0	0	0	--	--		0	T			DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA	45	GBM-06-0195-TP	p.S369I	G	GAGGAGTTCAGCAAGAGAAGG	NM_152383	NP_689596	233028324	Q8IYB7	DI3L2_HUMAN	0		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	9	1382	+	T	T		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	Missense_Mutation	369						
DIS3L2	0	broad.mit.edu	GRCh37	2	233194556	233194556	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-1977-01	TCGA-32-1977-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325385.7:c.1773G>C	p.Met591Ile	p.M591I	ENST00000325385	NM_152383.4	591	atG/atC	0			1			C	M/I	uc010fxz.2	protein_coding	YES	CCDS42834.1			1773/2658									ovary(1)|breast(1)|central_nervous_system(1)	3	c.(1771-1773)ATG>ATC			HAMAP:MF_03045,hmmpanther:PTHR23355,hmmpanther:PTHR23355:SF9,Pfam_domain:PF00773,SMART_domains:SM00955,Superfamily_domains:SSF50249	DIS3 mitotic control homolog (S.				ENSP00000315569		15/21									COSM3407657	15/21	.		ENST00000325385	Transcript	1				exonuclease activity|ribonuclease activity|RNA binding	ENSG00000144535	g.chr2:233194556G>C	28648			MODERATE		0.185	neutral	getma.org/?cm=msa&ty=f&p=DI3L2_HUMAN&rb=371&re=721&var=M591I	getma.org/pdb.php?prot=DI3L2_HUMAN&from=371&to=721&var=M591I	getma.org/?cm=var&var=hg19,2,233194556,G,C&fts=all	M591I	--	--	1																																		DIS3L2_uc002vsm.3_Intron|DIS3L2_uc002vso.2_RNA	1	1		benign(0.07)	p.M591I	NM_152383	NP_689596		tolerated(0.18)	1	DI3L2_HUMAN	DIS3L2	HGNC	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	H7C440_HUMAN,C9JGP4_HUMAN		15	2049	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	UPI000004BF03	591					SNV	DIS3L2,missense_variant,p.Met591Ile,ENST00000325385,NM_152383.4;DIS3L2,missense_variant,p.Met591Ile,ENST00000409307,;DIS3L2,missense_variant,p.Met226Ile,ENST00000424049,;DIS3L2,intron_variant,,ENST00000273009,NM_001257281.1;DIS3L2,upstream_gene_variant,,ENST00000418143,;DIS3L2,upstream_gene_variant,,ENST00000434477,;DIS3L2,3_prime_UTR_variant,,ENST00000433430,;DIS3L2,non_coding_transcript_exon_variant,,ENST00000429283,;DIS3L2,intron_variant,,ENST00000390005,;DIS3L2,intron_variant,,ENST00000445090,;	uc010fxz.2	c.1773G>C	2049/3501	4	4			c.1773G>C						2	SNP	c.(1771-1773)ATG>ATC	38	38			ovary(1)|breast(1)|central_nervous_system(1)	3	Broad	DIS3 mitotic control homolog (S.			233194556		0.657	ENSG00000144535	4458	g.chr2:233194556G>C			exonuclease activity|ribonuclease activity|RNA binding							3.234147	KEEP	0	2	-1	10	12	0	2	-1	6.430866	10	12	0.1	1	0	0	0	0	1	0	0	0	--	--		0	C			DIS3L2_uc002vsm.3_Intron|DIS3L2_uc002vso.2_RNA	229	GBM-32-1977-TP	p.M591I	G	TGGCCAACATGGCAGTGGCCC	NM_152383	NP_689596	233194556	Q8IYB7	DI3L2_HUMAN	0		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	15	2049	+	C	C		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	Missense_Mutation	591						
DISC1	0	broad.mit.edu	GRCh37	1	232144583	232144583	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-76-4927-01	TCGA-76-4927-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000439617.2:c.2095C>T	p.Arg699Ter	p.R699*	ENST00000439617	NM_001164540.1	699	Cga/Tga	0		G:0	1	G:0		T	R/*	uc001huz.2	protein_coding					2095/2565									skin(1)	1	c.(2095-2097)CGA>TGA			hmmpanther:PTHR14332,hmmpanther:PTHR14332:SF2	disrupted in schizophrenia 1 isoform L		G:0.001		ENSP00000403888	G:0	13-Nov	8.27E-06					1.53E-05			rs190975963,COSM3400464	13-Nov	.		ENST00000439617	Transcript	1	G:0.0002	microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	ENSG00000162946	g.chr1:232144583C>T	2888			HIGH								--	--	1																																		TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pxd.1_Nonsense_Mutation_p.R344*|DISC1_uc010pxe.1_Nonsense_Mutation_p.R699*|DISC1_uc009xfr.2_Nonsense_Mutation_p.R654*|DISC1_uc010pxf.1_Silent_p.V678V|DISC1_uc010pxg.1_3'UTR|DISC1_uc010pxh.1_Nonsense_Mutation_p.R731*|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_Nonsense_Mutation_p.R344*|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Nonsense_Mutation_p.R577*|DISC1_uc010pxn.1_Nonsense_Mutation_p.R344*|DISC1_uc001hva.2_Nonsense_Mutation_p.R699*	0,1	1			p.R699*	NM_018662	NP_061132	G:0		0,1		DISC1	HGNC	Q9NRI5	DISC1_HUMAN			C4P0C8_HUMAN,B1AM64_HUMAN		11	2148	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	UPI0000458AE0	699			Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Interaction with ATF4 and ATF5.		SNV	DISC1,stop_gained,p.Arg699Ter,ENST00000439617,NM_001164540.1,NM_018662.2,NM_001164537.1;DISC1,stop_gained,p.Arg31Ter,ENST00000366637,NM_001012957.1;DISC1,synonymous_variant,p.=,ENST00000535983,NM_001164538.1,NM_001164541.1;DISC1,3_prime_UTR_variant,,ENST00000537876,NM_001164547.1,NM_001164546.1;DISC1,non_coding_transcript_exon_variant,,ENST00000427560,;DISC1,3_prime_UTR_variant,,ENST00000422590,;	uc001huz.2	c.2095C>T	2148/7059	5	2			c.2095C>T						1	SNP	c.(2095-2097)CGA>TGA	34	34			skin(1)	1	Broad	disrupted in schizophrenia 1 isoform L			232144583		0.493	ENSG00000162946	4459	g.chr1:232144583C>T	microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding							68.810449	KEEP	16	17	-1	52	57	16	17	-1	77.733043	52	57	0.227273	1	0	0	0	0	0	1	0	0	--	--		0	T			TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pxd.1_Nonsense_Mutation_p.R344*|DISC1_uc010pxe.1_Nonsense_Mutation_p.R699*|DISC1_uc009xfr.2_Nonsense_Mutation_p.R654*|DISC1_uc010pxf.1_Silent_p.V678V|DISC1_uc010pxg.1_3'UTR|DISC1_uc010pxh.1_Nonsense_Mutation_p.R731*|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_Nonsense_Mutation_p.R344*|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Nonsense_Mutation_p.R577*|DISC1_uc010pxn.1_Nonsense_Mutation_p.R344*|DISC1_uc001hva.2_Nonsense_Mutation_p.R699*	267	GBM-76-4927-TP	p.R699*	C	GGAAGCTTGTCGATTGCTTAT	NM_018662	NP_061132	232144583	Q9NRI5	DISC1_HUMAN	0			11	2148	+	T	T		all_cancers(173;0.0208)|Prostate(94;0.0975)	Nonsense_Mutation	699			Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Interaction with ATF4 and ATF5.			
DKC1	0	broad.mit.edu	GRCh37	X	154001511	154001511	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-26-6174-01	TCGA-26-6174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369550.5:c.1142G>C	p.Gly381Ala	p.G381A	ENST00000369550	NM_001363.3	381	gGt/gCt	0			1			C	G/A	uc004fmm.2	protein_coding	YES	CCDS14761.1			1142/1545										0	c.(1141-1143)GGT>GCT			hmmpanther:PTHR23127,TIGRFAM_domain:TIGR00425	dyskerin isoform 1				ENSP00000358563		15-Nov									COSM3406169	15-Nov	.	Congenital_Dyskeratosis	ENST00000369550	Transcript	1		cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity	ENSG00000130826	g.chrX:154001511G>C	2890			MODERATE		3.075	medium	getma.org/?cm=msa&ty=f&p=DKC1_HUMAN&rb=371&re=514&var=G381A	getma.org/pdb.php?prot=DKC1_HUMAN&from=371&to=514&var=G381A	getma.org/?cm=var&var=hg19,X,154001511,G,C&fts=all	G381A	--	--	1																																		DKC1_uc010nvf.2_Missense_Mutation_p.G381A|SNORA56_uc004fmo.2_5'Flank	1	1		possibly_damaging(0.72)	p.G381A	NM_001363	NP_001354		deleterious(0)	1	DKC1_HUMAN	DKC1	HGNC	O60832	DKC1_HUMAN					11	1352	+	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		UPI00000325ED	381					SNV	DKC1,missense_variant,p.Gly381Ala,ENST00000369550,NM_001363.3,NM_001142463.1;DKC1,downstream_gene_variant,,ENST00000413910,;DKC1,downstream_gene_variant,,ENST00000437719,;SNORA36A,downstream_gene_variant,,ENST00000384221,NR_002969.1;SNORA56,upstream_gene_variant,,ENST00000383966,NR_002984.1;DKC1,non_coding_transcript_exon_variant,,ENST00000475966,;DKC1,upstream_gene_variant,,ENST00000492372,;DKC1,missense_variant,p.Gly169Ala,ENST00000426673,;DKC1,3_prime_UTR_variant,,ENST00000412124,;DKC1,non_coding_transcript_exon_variant,,ENST00000481062,;DKC1,downstream_gene_variant,,ENST00000452771,;DKC1,downstream_gene_variant,,ENST00000484317,;	uc004fmm.2	c.1142G>C	1352/2577	4	4			c.1142G>C						23	SNP	c.(1141-1143)GGT>GCT	42	42				0	Broad	dyskerin isoform 1			154001511	Congenital_Dyskeratosis	0.383	ENSG00000130826	4463	g.chrX:154001511G>C	cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity							33.849132	KEEP	13	3	-1	35	34	13	3	-1	41.60625	35	34	0.171053	1	0	0	0	0	1	0	0	0	--	--		0	C			DKC1_uc010nvf.2_Missense_Mutation_p.G381A|SNORA56_uc004fmo.2_5'Flank	188	GBM-26-6174-TP	p.G381A	G	CGGAAGTGGGGTTTAGGTCCA	NM_001363	NP_001354	154001511	O60832	DKC1_HUMAN	0			11	1352	+	C	C	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		Missense_Mutation	381						
DKC1	0	broad.mit.edu	GRCh37	X	154004585	154004585	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369550.5:c.1462G>A	p.Glu488Lys	p.E488K	ENST00000369550	NM_001363.3	488	Gag/Aag	0			1			A	E/K	uc004fmm.2	protein_coding	YES	CCDS14761.1			1462/1545										0	c.(1462-1464)GAG>AAG			hmmpanther:PTHR23127	dyskerin isoform 1				ENSP00000358563		14/15									COSM3406170	14/15	.	Congenital_Dyskeratosis	ENST00000369550	Transcript	1		cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity	ENSG00000130826	g.chrX:154004585G>A	2890			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=DKC1_HUMAN&rb=371&re=514&var=E488K	NA	getma.org/?cm=var&var=hg19,X,154004585,G,A&fts=all	E488K	--	--	1																																		DKC1_uc010nvf.2_Missense_Mutation_p.E483K	1	1		benign(0.046)	p.E488K	NM_001363	NP_001354		tolerated_low_confidence(0.12)	1	DKC1_HUMAN	DKC1	HGNC	O60832	DKC1_HUMAN					14	1672	+	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		UPI00000325ED	488			Nuclear and nucleolar localization.		SNV	DKC1,missense_variant,p.Glu488Lys,ENST00000369550,NM_001363.3,NM_001142463.1;MPP1,downstream_gene_variant,,ENST00000413259,NM_001166462.1;MPP1,downstream_gene_variant,,ENST00000369534,NM_001166461.1,NM_002436.3,NM_001166460.1;MPP1,downstream_gene_variant,,ENST00000393531,;SNORA56,downstream_gene_variant,,ENST00000383966,NR_002984.1;DKC1,non_coding_transcript_exon_variant,,ENST00000492372,;DKC1,downstream_gene_variant,,ENST00000475966,;MPP1,downstream_gene_variant,,ENST00000491955,;MPP1,downstream_gene_variant,,ENST00000439370,;MPP1,downstream_gene_variant,,ENST00000482757,;DKC1,downstream_gene_variant,,ENST00000481062,;DKC1,downstream_gene_variant,,ENST00000426673,;DKC1,downstream_gene_variant,,ENST00000412124,;	uc004fmm.2	c.1462G>A	1672/2577	2	2			c.1462G>A						23	SNP	c.(1462-1464)GAG>AAG	36	36				0	Broad	dyskerin isoform 1			154004585	Congenital_Dyskeratosis	0.468	ENSG00000130826	4463	g.chrX:154004585G>A	cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity							48.193179	KEEP	7	9	-1	11	12	7	9	-1	48.399962	11	12	0.421053	1	0	0	0	0	1	0	0	0	--	--		0	A			DKC1_uc010nvf.2_Missense_Mutation_p.E483K	232	GBM-32-1982-TP	p.E488K	G	GAGCGGGGCCGAGCCTGGAGA	NM_001363	NP_001354	154004585	O60832	DKC1_HUMAN	0			14	1672	+	A	A	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		Missense_Mutation	488			Nuclear and nucleolar localization.			
DKK1	0	broad.mit.edu	GRCh37	10	54076434	54076434	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-4068-01	TCGA-19-4068-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373970.3:c.668A>G	p.His223Arg	p.H223R	ENST00000373970	NM_012242.2	223	cAt/cGt	0			1			G	H/R	uc001jjr.2	protein_coding	YES	CCDS7246.1			668/801									ovary(1)|lung(1)|kidney(1)	3	c.(667-669)CAT>CGT			Gene3D:2.10.80.10	dickkopf homolog 1 precursor				ENSP00000363081		4-Apr	8.24E-06					1.50E-05			rs746527234,COSM2156456	4-Apr	.		ENST00000373970	Transcript	1		negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity	ENSG00000107984	g.chr10:54076434A>G	2891			MODERATE		0.75	neutral	getma.org/?cm=msa&ty=f&p=DKK1_HUMAN&rb=141&re=266&var=H223R	getma.org/pdb.php?prot=DKK1_HUMAN&from=141&to=266&var=H223R	getma.org/?cm=var&var=hg19,10,54076434,A,G&fts=all	H223R	--	--	1																																		uc001jjq.1_5'Flank|uc009xox.1_5'Flank	0,1	1		possibly_damaging(0.703)	p.H223R	NM_012242	NP_036374		deleterious(0)	0,1	DKK1_HUMAN	DKK1	HGNC	O94907	DKK1_HUMAN			I1W660_HUMAN		4	822	+			UPI000004C65E	223			DKK-type Cys-2.		SNV	DKK1,missense_variant,p.His223Arg,ENST00000373970,NM_012242.2;PRKG1-AS1,upstream_gene_variant,,ENST00000420193,;DKK1,non_coding_transcript_exon_variant,,ENST00000476752,;DKK1,non_coding_transcript_exon_variant,,ENST00000494277,;DKK1,downstream_gene_variant,,ENST00000467359,;	uc001jjr.2	c.668A>G	807/1790	3	3			c.668A>G						10	SNP	c.(667-669)CAT>CGT	52	52			ovary(1)|lung(1)|kidney(1)	3	Broad	dickkopf homolog 1 precursor			54076434		0.463	ENSG00000107984	4465	g.chr10:54076434A>G	negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			158			158	268.336042	KEEP	45	42	-1	26	15	45	42	-1	271.32044	26	15	0.672566	1	0	0	0	0	1	0	0	0	--	--		0	G			uc001jjq.1_5'Flank|uc009xox.1_5'Flank	168	GBM-19-4068-TP	p.H223R	A	TGTACCAAGCATAGGAGAAAA	NM_012242	NP_036374	54076434	O94907	DKK1_HUMAN	0			4	822	+	G	G			Missense_Mutation	223			DKK-type Cys-2.			
DKK2	27123	broad.mit.edu	GRCh37	4	107847047	107847047	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0169-01	TCGA-06-0169-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285311.3:c.282C>A	p.His94Gln	p.H94Q	ENST00000285311	NM_014421.2	94	caC/caA	0	T:0.0002		1			T	H/Q	uc003hyi.2	protein_coding	YES	CCDS3675.1			282/780									ovary(3)|lung(1)|skin(1)	5	c.(280-282)CAC>CAA			Pfam_domain:PF04706	dickkopf homolog 2 precursor			T:0	ENSP00000285311		4-Feb	1.65E-05	0.000192							rs374083904,COSM2150262	4-Feb	.		ENST00000285311	Transcript			multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		ENSG00000155011	g.chr4:107847047G>T	2892			MODERATE		0.435	neutral	getma.org/?cm=msa&ty=f&p=DKK2_HUMAN&rb=77&re=129&var=H94Q	NA	getma.org/?cm=var&var=hg19,4,107847047,G,T&fts=all	H94Q	--	--	1																																		DKK2_uc010ilw.1_RNA|DKK2_uc003hyj.1_Missense_Mutation_p.H94Q	0,1	1		probably_damaging(0.912)	p.H94Q	NM_014421	NP_055236		tolerated(0.85)	0,1	DKK2_HUMAN	DKK2	HGNC	Q9UBU2	DKK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)	D6RGF1_HUMAN		2	987	-		Hepatocellular(203;0.217)	UPI0000048EF2	94			DKK-type Cys-1.		SNV	DKK2,missense_variant,p.His94Gln,ENST00000285311,NM_014421.2;DKK2,missense_variant,p.His48Gln,ENST00000510463,;DKK2,5_prime_UTR_variant,,ENST00000513208,;DKK2,non_coding_transcript_exon_variant,,ENST00000510534,;	uc003hyi.2	c.282C>A	988/3638	2	2			c.282C>A						4	SNP	c.(280-282)CAC>CAA	24	24			ovary(3)|lung(1)|skin(1)	5	Broad	dickkopf homolog 2 precursor			107847047		0.502	ENSG00000155011	4466	g.chr4:107847047G>T	multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space								120.032703	KEEP	29	16	0.644444444	67	56	29	16	0.644444444	127.978748	67	56	0.268293	1	0	0	0	0	1	0	0	0	--	--		0	T			DKK2_uc010ilw.1_RNA|DKK2_uc003hyj.1_Missense_Mutation_p.H94Q	34	GBM-06-0169-TP	p.H94Q	G	ATGATCCTTGGTGGGGACTGT	NM_014421	NP_055236	107847047	Q9UBU2	DKK2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)	2	987	-	T	T		Hepatocellular(203;0.217)	Missense_Mutation	94			DKK-type Cys-1.			
DKK2	27123		GRCh37	4	107845338	107845338	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000285311.3:c.553C>T	p.Arg185Ter	p.R185*	ENST00000285311	NM_014421.2	185	Cga/Tga	0																																																																																																																																																																																																																																												
DKKL1	0	broad.mit.edu	GRCh37	19	49867855	49867855	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6701-01	TCGA-06-6701-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221498.2:c.27C>T	p.Pro9=	p.P9=	ENST00000221498	NM_014419.3	9	ccC/ccT	0			1			T	P	uc002pnk.2	protein_coding	YES	CCDS12762.1			27/729										0	c.(25-27)CCC>CCT			Cleavage_site_(Signalp):SignalP-noTM	dickkopf-like 1 precursor				ENSP00000221498		5-Feb									COSM3404451	5-Feb	.		ENST00000221498	Transcript			anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity	ENSG00000104901	g.chr19:49867855C>T	16528			LOW								--	--	1																																		TEAD2_uc002pni.2_5'Flank|TEAD2_uc002pnj.2_5'Flank|TEAD2_uc010yao.1_5'Flank|TEAD2_uc010emw.2_5'Flank	1	1			p.P9P	NM_014419	NP_055234			1	DKKL1_HUMAN	DKKL1	HGNC	Q9UK85	DKKL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)	M0R2X7_HUMAN,M0QZP1_HUMAN,M0QYJ2_HUMAN		2	241	+		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	UPI00000012EC	9					SNV	DKKL1,synonymous_variant,p.=,ENST00000221498,NM_014419.3;DKKL1,synonymous_variant,p.=,ENST00000597546,NM_001197301.1;DKKL1,5_prime_UTR_variant,,ENST00000596402,NM_001197302.1;DKKL1,5_prime_UTR_variant,,ENST00000597873,;DKKL1,intron_variant,,ENST00000594268,;TEAD2,upstream_gene_variant,,ENST00000377214,;TEAD2,upstream_gene_variant,,ENST00000598810,NM_001256661.1;TEAD2,upstream_gene_variant,,ENST00000601519,NM_001256658.1;TEAD2,upstream_gene_variant,,ENST00000311227,NM_001256659.1,NM_003598.1;TEAD2,upstream_gene_variant,,ENST00000593945,NM_001256660.1;TEAD2,upstream_gene_variant,,ENST00000539846,NM_001256662.1;TEAD2,upstream_gene_variant,,ENST00000596757,;DKKL1,upstream_gene_variant,,ENST00000598682,;AC010524.2,downstream_gene_variant,,ENST00000599433,;TEAD2,upstream_gene_variant,,ENST00000595233,;	uc002pnk.2	c.27C>T	432/1222	2	2			c.27C>T						19	SNP	c.(25-27)CCC>CCT	43	43				0	Broad	dickkopf-like 1 precursor			49867855		0.677	ENSG00000104901	4469	g.chr19:49867855C>T	anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity							31.880122	KEEP	6	6	-1	22	16	6	6	-1	34.09283	22	16	0.266667	1	0	0	0	0	0	0	1	0	--	--		0	T			TEAD2_uc002pni.2_5'Flank|TEAD2_uc002pnj.2_5'Flank|TEAD2_uc010yao.1_5'Flank|TEAD2_uc010emw.2_5'Flank	115	GBM-06-6701-TP	p.P9P	C	CACCTGCCCCCGCAAGGCGGC	NM_014419	NP_055234	49867855	Q9UK85	DKKL1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)	2	241	+	T	T		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	Silent	9						
DLC1	10395	broad.mit.edu	GRCh37	8	12956045	12956045	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5414-01	TCGA-06-5414-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276297.4:c.3030G>A	p.Arg1010=	p.R1010=	ENST00000276297	NM_182643.2	1010	cgG/cgA	0			1			T	R	uc003wwm.2	protein_coding	YES	CCDS5989.1			3030/4587									ovary(3)|pancreas(2)|lung(1)|kidney(1)	7	c.(3028-3030)CGG>CGA			hmmpanther:PTHR12659,hmmpanther:PTHR12659:SF2	deleted in liver cancer 1 isoform 1				ENSP00000276297		18-Oct									COSM3412749	18-Oct	.		ENST00000276297	Transcript			actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	ENSG00000164741	g.chr8:12956045C>T	2897			LOW								--	--	1																																		DLC1_uc003wwk.1_Silent_p.R573R|DLC1_uc003wwl.1_Silent_p.R607R|DLC1_uc011kxx.1_Silent_p.R499R	1	1			p.R1010R	NM_182643	NP_872584			1	RHG07_HUMAN	DLC1	HGNC	Q96QB1	RHG07_HUMAN					10	3474	-			UPI0000210275	1010					SNV	DLC1,synonymous_variant,p.=,ENST00000276297,NM_182643.2;DLC1,synonymous_variant,p.=,ENST00000358919,NM_006094.4;DLC1,synonymous_variant,p.=,ENST00000512044,;DLC1,synonymous_variant,p.=,ENST00000520226,NM_001164271.1;DLC1,downstream_gene_variant,,ENST00000503161,;DLC1,upstream_gene_variant,,ENST00000510318,;DLC1,upstream_gene_variant,,ENST00000513883,;DLC1,downstream_gene_variant,,ENST00000515225,;DLC1,downstream_gene_variant,,ENST00000509922,;DLC1,non_coding_transcript_exon_variant,,ENST00000510250,;	uc003wwm.2	c.3030G>A	3440/7447	2	2			c.3030G>A						8	SNP	c.(3028-3030)CGG>CGA	44	44			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7	Broad	deleted in liver cancer 1 isoform 1			12956045		0.463	ENSG00000164741	4471	g.chr8:12956045C>T	actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			739			739	-16.361814	KEEP	3	1	-1	49	54	3	1	-1	7.554555	49	54	0.038462	1	0	0	0	0	0	0	1	0	--	--		0	T			DLC1_uc003wwk.1_Silent_p.R573R|DLC1_uc003wwl.1_Silent_p.R607R|DLC1_uc011kxx.1_Silent_p.R499R	97	GBM-06-5414-TP	p.R1010R	C	TGAGGCTTGGCCGATGTGAGC	NM_182643	NP_872584	12956045	Q96QB1	RHG07_HUMAN	0			10	3474	-	T	T			Silent	1010						
DLC1	0	broad.mit.edu	GRCh37	8	12946050	12946050	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-12-1597-01	TCGA-12-1597-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276297.4:c.4238A>G	p.Gln1413Arg	p.Q1413R	ENST00000276297	NM_182643.2	1413	cAg/cGg	0			1			C	Q/R	uc003wwm.2	protein_coding	YES	CCDS5989.1			4238/4587									ovary(3)|pancreas(2)|lung(1)|kidney(1)	7	c.(4237-4239)CAG>CGG			Gene3D:3.30.530.20,Pfam_domain:PF01852,PROSITE_profiles:PS50848,hmmpanther:PTHR12659,hmmpanther:PTHR12659:SF2,SMART_domains:SM00234,Superfamily_domains:SSF55961	deleted in liver cancer 1 isoform 1				ENSP00000276297		16/18									COSM3412746	16/18	.		ENST00000276297	Transcript			actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	ENSG00000164741	g.chr8:12946050T>C	2897			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=RHG07_HUMAN&rb=1323&re=1522&var=Q1413R	getma.org/pdb.php?prot=RHG07_HUMAN&from=1323&to=1522&var=Q1413R	getma.org/?cm=var&var=hg19,8,12946050,T,C&fts=all	Q1413R	--	--	1																																		DLC1_uc003wwk.1_Missense_Mutation_p.Q976R|DLC1_uc003wwl.1_Missense_Mutation_p.Q1010R|DLC1_uc011kxx.1_Missense_Mutation_p.Q902R	1	1		probably_damaging(0.945)	p.Q1413R	NM_182643	NP_872584		deleterious(0.01)	1	RHG07_HUMAN	DLC1	HGNC	Q96QB1	RHG07_HUMAN					16	4682	-			UPI0000210275	1413			START.		SNV	DLC1,missense_variant,p.Gln1413Arg,ENST00000276297,NM_182643.2;DLC1,missense_variant,p.Gln976Arg,ENST00000358919,NM_006094.4;DLC1,missense_variant,p.Gln1010Arg,ENST00000512044,;DLC1,missense_variant,p.Gln902Arg,ENST00000520226,NM_001164271.1;DLC1,non_coding_transcript_exon_variant,,ENST00000510318,;DLC1,non_coding_transcript_exon_variant,,ENST00000521730,;	uc003wwm.2	c.4238A>G	4648/7447	3	3			c.4238A>G						8	SNP	c.(4237-4239)CAG>CGG	50	50			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7	Broad	deleted in liver cancer 1 isoform 1			12946050		0.423	ENSG00000164741	4471	g.chr8:12946050T>C	actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			739			739	266.939785	KEEP	38	47	-1	83	63	38	47	-1	270.231324	83	63	0.368664	1	0	0	0	0	1	0	0	0	--	--		0	C			DLC1_uc003wwk.1_Missense_Mutation_p.Q976R|DLC1_uc003wwl.1_Missense_Mutation_p.Q1010R|DLC1_uc011kxx.1_Missense_Mutation_p.Q902R	124	GBM-12-1597-TP	p.Q1413R	T	TTGGACATACTGGTAAATTTC	NM_182643	NP_872584	12946050	Q96QB1	RHG07_HUMAN	0			16	4682	-	C	C			Missense_Mutation	1413			START.			
DLC1	0	broad.mit.edu	GRCh37	8	13251148	13251148	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276297.4:c.1228C>T	p.Arg410Ter	p.R410*	ENST00000276297	NM_182643.2	410	Cga/Tga	0			1			A	R/*	uc003wwm.2	protein_coding	YES	CCDS5989.1			1228/4587									ovary(3)|pancreas(2)|lung(1)|kidney(1)	7	c.(1228-1230)CGA>TGA			hmmpanther:PTHR12659,hmmpanther:PTHR12659:SF2	deleted in liver cancer 1 isoform 1				ENSP00000276297		18-Apr	1.65E-05					3.00E-05			COSM177883,COSM177884,COSM3412756	18-Apr	.		ENST00000276297	Transcript			actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	ENSG00000164741	g.chr8:13251148G>A	2897			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,8,13251148,G,A&fts=all	R410*	--	--	1																																		DLC1_uc003wwn.2_Nonsense_Mutation_p.R410*|DLC1_uc011kxy.1_Nonsense_Mutation_p.R410*	1,1,1	1			p.R410*	NM_182643	NP_872584			1,1,1	RHG07_HUMAN	DLC1	HGNC	Q96QB1	RHG07_HUMAN					4	1672	-			UPI0000210275	410					SNV	DLC1,stop_gained,p.Arg410Ter,ENST00000276297,NM_182643.2;DLC1,stop_gained,p.Arg410Ter,ENST00000511869,NM_024767.3;DLC1,stop_gained,p.Arg410Ter,ENST00000316609,;	uc003wwm.2	c.1228C>T	1638/7447	5	1			c.1228C>T						8	SNP	c.(1228-1230)CGA>TGA	60	60			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7	Broad	deleted in liver cancer 1 isoform 1			13251148		0.423	ENSG00000164741	4471	g.chr8:13251148G>A	actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding		p.R410*(JHUEM7-Tumor)	739		p.R410*(JHUEM7-Tumor)	739	223.621412	KEEP	43	38	-1	57	73	43	38	-1	226.407003	57	73	0.37561	1	0	0	0	0	0	1	0	0	--	--		0	A			DLC1_uc003wwn.2_Nonsense_Mutation_p.R410*|DLC1_uc011kxy.1_Nonsense_Mutation_p.R410*	129	GBM-12-5295-TP	p.R410*	G	AAATTTACTCGTGTCTGATTT	NM_182643	NP_872584	13251148	Q96QB1	RHG07_HUMAN	0			4	1672	-	A	A			Nonsense_Mutation	410						
DLC1	0	broad.mit.edu	GRCh37	8	12957581	12957581	+	synonymous_variant	Silent	SNP	C	C	T	rs138749997	byFrequency	TCGA-28-5211-01	TCGA-28-5211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276297.4:c.2265G>A	p.Thr755=	p.T755=	ENST00000276297	NM_182643.2	755	acG/acA	0			1			T	T	uc003wwm.2	protein_coding	YES	CCDS5989.1			2265/4587									ovary(3)|pancreas(2)|lung(1)|kidney(1)	7	c.(2263-2265)ACG>ACA			hmmpanther:PTHR12659,hmmpanther:PTHR12659:SF2,Low_complexity_(Seg):seg	deleted in liver cancer 1 isoform 1				ENSP00000276297		18-Sep									COSM3412750	18-Sep	.		ENST00000276297	Transcript			actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	ENSG00000164741	g.chr8:12957581C>T	2897			LOW								--	--	1																																		DLC1_uc003wwk.1_Silent_p.T318T|DLC1_uc003wwl.1_Silent_p.T352T|DLC1_uc011kxx.1_Silent_p.T244T	1	1			p.T755T	NM_182643	NP_872584			1	RHG07_HUMAN	DLC1	HGNC	Q96QB1	RHG07_HUMAN					9	2709	-			UPI0000210275	755					SNV	DLC1,synonymous_variant,p.=,ENST00000276297,NM_182643.2;DLC1,synonymous_variant,p.=,ENST00000358919,NM_006094.4;DLC1,synonymous_variant,p.=,ENST00000512044,;DLC1,synonymous_variant,p.=,ENST00000520226,NM_001164271.1;DLC1,downstream_gene_variant,,ENST00000503161,;DLC1,upstream_gene_variant,,ENST00000510318,;DLC1,upstream_gene_variant,,ENST00000513883,;DLC1,downstream_gene_variant,,ENST00000515225,;DLC1,downstream_gene_variant,,ENST00000509922,;DLC1,non_coding_transcript_exon_variant,,ENST00000510250,;	uc003wwm.2	c.2265G>A	2675/7447	1	1			c.2265G>A						8	SNP	c.(2263-2265)ACG>ACA	8	8			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7	Broad	deleted in liver cancer 1 isoform 1			12957581		0.582	ENSG00000164741	4471	g.chr8:12957581C>T	actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			739			739	18.448894	KEEP	5	9	-1	17	17	5	9	-1	20.524214	17	17	0.272727	1	0	0	0	0	0	0	1	0	--	--		0	T			DLC1_uc003wwk.1_Silent_p.T318T|DLC1_uc003wwl.1_Silent_p.T352T|DLC1_uc011kxx.1_Silent_p.T244T	219	GBM-28-5211-TP	p.T755T	C	CAGGGCTGGGCGTGCTGACCG	NM_182643	NP_872584	12957581	Q96QB1	RHG07_HUMAN	0			9	2709	-	T	T			Silent	755						
DLC1	10395		GRCh37	8	12952344	12952344	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000276297.4:c.3450G>A	p.Leu1150=	p.L1150=	ENST00000276297	NM_182643.2	1150	ctG/ctA	0																																																																																																																																																																																																																																												
DLD	1738	broad.mit.edu	GRCh37	7	107545876	107545876	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01	TCGA-06-0195-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000205402.5:c.509G>A	p.Gly170Asp	p.G170D	ENST00000205402	NM_000108.3	170	gGc/gAc	0			1			A	G/D	uc003vet.2	protein_coding	YES	CCDS5749.1			509/1530									central_nervous_system(1)	1	c.(508-510)GGC>GAC			Gene3D:3.50.50.60,Pfam_domain:PF07992,hmmpanther:PTHR22912,hmmpanther:PTHR22912:SF20,Superfamily_domains:SSF51905,TIGRFAM_domain:TIGR01350	dihydrolipoamide dehydrogenase precursor	NADH(DB00157)			ENSP00000205402		14-Jul									COSM1294356,COSM1294357	14-Jul	.		ENST00000205402	Transcript	1		branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity	ENSG00000091140	g.chr7:107545876G>A	2898			MODERATE		1.455	low	getma.org/?cm=msa&ty=f&p=DLDH_HUMAN&rb=43&re=361&var=G170D	getma.org/pdb.php?prot=DLDH_HUMAN&from=43&to=361&var=G170D	getma.org/?cm=var&var=hg19,7,107545876,G,A&fts=all	G170D	--	--	1																																		DLD_uc010ljm.1_RNA|DLD_uc011kmg.1_Intron|DLD_uc011kmh.1_Missense_Mutation_p.G147D|DLD_uc011kmi.1_Missense_Mutation_p.G71D	1,1	1		benign(0.029)	p.G170D	NM_000108	NP_000099		deleterious(0.03)	1,1	DLDH_HUMAN	DLD	HGNC	P09622	DLDH_HUMAN			B4DHG0_HUMAN		7	619	+			UPI0000072725	170					SNV	DLD,missense_variant,p.Gly170Asp,ENST00000205402,NM_000108.3;DLD,missense_variant,p.Gly147Asp,ENST00000440410,;DLD,missense_variant,p.Gly71Asp,ENST00000537148,;DLD,intron_variant,,ENST00000437604,;DLD,downstream_gene_variant,,ENST00000494441,;DLD,downstream_gene_variant,,ENST00000453354,;DLD,missense_variant,p.Gly170Asp,ENST00000417551,;DLD,3_prime_UTR_variant,,ENST00000415325,;DLD,3_prime_UTR_variant,,ENST00000451081,;DLD,non_coding_transcript_exon_variant,,ENST00000489184,;DLD,non_coding_transcript_exon_variant,,ENST00000478414,;DLD,downstream_gene_variant,,ENST00000450038,;DLD,downstream_gene_variant,,ENST00000460577,;	uc003vet.2	c.509G>A	790/3755	1	1			c.509G>A						7	SNP	c.(508-510)GGC>GAC	50	50			central_nervous_system(1)	1	Broad	dihydrolipoamide dehydrogenase precursor		NADH(DB00157)	107545876		0.358	ENSG00000091140	4472	g.chr7:107545876G>A	branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity							-36.86435	KEEP	2	2	-1	93	94	2	2	-1	6.673615	93	94	0.023256	1	0	0	0	0	1	0	0	0	--	--		0	A			DLD_uc010ljm.1_RNA|DLD_uc011kmg.1_Intron|DLD_uc011kmh.1_Missense_Mutation_p.G147D|DLD_uc011kmi.1_Missense_Mutation_p.G71D	45	GBM-06-0195-TP	p.G170D	G	GCTGATGGCGGCACTCAGGTT	NM_000108	NP_000099	107545876	P09622	DLDH_HUMAN	0			7	619	+	A	A			Missense_Mutation	170						
DLEC1	9940	broad.mit.edu	GRCh37	3	38104257	38104257	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0152-01	TCGA-06-0152-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308059.6:c.1059G>A	p.Pro353=	p.P353=	ENST00000308059		353	ccG/ccA	0	A:0.0019	A:0.0038	1	A:0.0014		A	P	uc003cho.1	protein_coding	YES	CCDS2672.2			1059/5268									ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9	c.(1057-1059)CCG>CCA			hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF8	deleted in lung and esophageal cancer 1 isoform		A:0.001	A:0	ENSP00000308597	A:0	May-37	0.00024	0.00277	8.66E-05			1.50E-05			rs181613667,COSM2149870,COSM2149871	May-37	common_variant		ENST00000308059	Transcript	1	A:0.0014	negative regulation of cell proliferation	cytoplasm		ENSG00000008226	g.chr3:38104257G>A	2899			LOW								--	--	1																																		DLEC1_uc003chp.1_Silent_p.P353P|DLEC1_uc010hgv.1_Silent_p.P353P|DLEC1_uc010hgw.1_Silent_p.P52P|DLEC1_uc003chq.1_RNA	0,1,1	1			p.P353P	NM_007335	NP_031361	A:0		0,1,1	DLEC1_HUMAN	DLEC1	HGNC	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)			5	1080	+			UPI00006EB134	353					SNV	DLEC1,synonymous_variant,p.=,ENST00000308059,;DLEC1,synonymous_variant,p.=,ENST00000452631,NM_007335.2;DLEC1,synonymous_variant,p.=,ENST00000346219,NM_007337.2;DLEC1,upstream_gene_variant,,ENST00000469151,;DLEC1,synonymous_variant,p.=,ENST00000447130,;DLEC1,non_coding_transcript_exon_variant,,ENST00000440294,;	uc003cho.1	c.1059G>A	1080/6426	1	1			c.1059G>A						3	SNP	c.(1057-1059)CCG>CCA	63	63			ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9	Broad	deleted in lung and esophageal cancer 1 isoform			38104257		0.463	ENSG00000008226	4473	g.chr3:38104257G>A	negative regulation of cell proliferation	cytoplasm								62.750409	KEEP	12	17	-1	41	51	12	17	-1	68.560238	41	51	0.244898	1	0	0	0	0	0	0	1	0	--	--		0	A			DLEC1_uc003chp.1_Silent_p.P353P|DLEC1_uc010hgv.1_Silent_p.P353P|DLEC1_uc010hgw.1_Silent_p.P52P|DLEC1_uc003chq.1_RNA	25	GBM-06-0152-TP	p.P353P	G	AGCCAGCACCGATAGGAGAAT	NM_007335	NP_031361	38104257	Q9Y238	DLEC1_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	5	1080	+	A	A			Silent	353						
DLEC1	9940	broad.mit.edu	GRCh37	3	38151764	38151764	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-2570-01	TCGA-06-2570-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308059.6:c.3435G>C	p.Lys1145Asn	p.K1145N	ENST00000308059		1145	aaG/aaC	0			1			C	K/N	uc003cho.1	protein_coding	YES	CCDS2672.2			3435/5268									ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9	c.(3433-3435)AAG>AAC			hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF8	deleted in lung and esophageal cancer 1 isoform				ENSP00000308597		23/37	2.48E-05				0.000151	3.02E-05			rs764852314,COSM3748231,COSM3748232	23/37	.		ENST00000308059	Transcript	1		negative regulation of cell proliferation	cytoplasm		ENSG00000008226	g.chr3:38151764G>C	2899			MODERATE		1.525	low	getma.org/?cm=msa&ty=f&p=DLEC1_HUMAN&rb=1&re=1752&var=K1145N	NA	getma.org/?cm=var&var=hg19,3,38151764,G,C&fts=all	K1145N	--	--	1																																		DLEC1_uc003chp.1_Missense_Mutation_p.K1145N|DLEC1_uc010hgv.1_Missense_Mutation_p.K1148N|DLEC1_uc003chr.1_Missense_Mutation_p.K251N|DLEC1_uc010hgx.1_RNA	0,1,1	1		benign(0.019)	p.K1145N	NM_007335	NP_031361		tolerated(0.12)	0,1,1	DLEC1_HUMAN	DLEC1	HGNC	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)			23	3456	+			UPI00006EB134	1145					SNV	DLEC1,missense_variant,p.Lys1145Asn,ENST00000308059,;DLEC1,missense_variant,p.Lys1148Asn,ENST00000452631,NM_007335.2;DLEC1,missense_variant,p.Lys1145Asn,ENST00000346219,NM_007337.2;ACAA1,intron_variant,,ENST00000451419,;DLEC1,non_coding_transcript_exon_variant,,ENST00000477260,;	uc003cho.1	c.3435G>C	3456/6426	3	3			c.3435G>C						3	SNP	c.(3433-3435)AAG>AAC	16	16			ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9	Broad	deleted in lung and esophageal cancer 1 isoform			38151764		0.542	ENSG00000008226	4473	g.chr3:38151764G>C	negative regulation of cell proliferation	cytoplasm								-13.733234	KEEP	3	8	-1	79	71	3	8	-1	6.397851	79	71	0.052632	1	0	0	0	0	1	0	0	0	--	--		0	C			DLEC1_uc003chp.1_Missense_Mutation_p.K1145N|DLEC1_uc010hgv.1_Missense_Mutation_p.K1148N|DLEC1_uc003chr.1_Missense_Mutation_p.K251N|DLEC1_uc010hgx.1_RNA	91	GBM-06-2570-TP	p.K1145N	G	TGAGCAAAAAGACCAGCCTGT	NM_007335	NP_031361	38151764	Q9Y238	DLEC1_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	23	3456	+	C	C			Missense_Mutation	1145						
DLEC1	0	broad.mit.edu	GRCh37	3	38139020	38139020	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-16-0861-01	TCGA-16-0861-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308059.6:c.2457T>C	p.Phe819=	p.F819=	ENST00000308059		819	ttT/ttC	0			1			C	F	uc003cho.1	protein_coding	YES	CCDS2672.2			2457/5268									ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9	c.(2455-2457)TTT>TTC			hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF8	deleted in lung and esophageal cancer 1 isoform				ENSP00000308597		17/37									COSM3408626,COSM3408627	17/37	.		ENST00000308059	Transcript	1		negative regulation of cell proliferation	cytoplasm		ENSG00000008226	g.chr3:38139020T>C	2899			LOW								--	--	1																																		DLEC1_uc003chp.1_Silent_p.F819F|DLEC1_uc010hgv.1_Silent_p.F819F|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_RNA	1,1	1			p.F819F	NM_007335	NP_031361			1,1	DLEC1_HUMAN	DLEC1	HGNC	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)			17	2478	+			UPI00006EB134	819					SNV	DLEC1,synonymous_variant,p.=,ENST00000308059,;DLEC1,synonymous_variant,p.=,ENST00000452631,NM_007335.2;DLEC1,synonymous_variant,p.=,ENST00000346219,NM_007337.2;DLEC1,non_coding_transcript_exon_variant,,ENST00000440294,;DLEC1,downstream_gene_variant,,ENST00000447130,;	uc003cho.1	c.2457T>C	2478/6426	4	4			c.2457T>C						3	SNP	c.(2455-2457)TTT>TTC	43	43			ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9	Broad	deleted in lung and esophageal cancer 1 isoform			38139020		0.562	ENSG00000008226	4473	g.chr3:38139020T>C	negative regulation of cell proliferation	cytoplasm								107.829867	KEEP	25	14	-1	36	23	25	14	-1	108.738589	36	23	0.390805	1	0	0	0	0	0	0	1	0	--	--		0	C			DLEC1_uc003chp.1_Silent_p.F819F|DLEC1_uc010hgv.1_Silent_p.F819F|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_RNA	156	GBM-16-0861-TP	p.F819F	T	TCGGGGATTTTGAGTTGAACT	NM_007335	NP_031361	38139020	Q9Y238	DLEC1_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	17	2478	+	C	C			Silent	819						
DLEC1	9940		GRCh37	3	38153750	38153750	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000308059.6:c.3564T>C	p.Pro1188=	p.P1188=	ENST00000308059		1188	ccT/ccC	0																																																																																																																																																																																																																																												
DLG1	0	broad.mit.edu	GRCh37	3	196921382	196921382	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-27-2523-01	TCGA-27-2523-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000419354.1:c.397G>C	p.Glu133Gln	p.E133Q	ENST00000419354		133	Gaa/Caa	0			1			G	E/Q	uc003fxo.3	protein_coding		CCDS43194.1			397/2715									ovary(3)	3	c.(397-399)GAA>CAA			Pfam_domain:PF10608,PIRSF_domain:PIRSF001741,hmmpanther:PTHR23119	discs, large homolog 1 isoform 1				ENSP00000407531		26-May									COSM3408555,COSM3408556	26-May	.		ENST00000419354	Transcript			actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding	ENSG00000075711	g.chr3:196921382C>G	2900			MODERATE		2.19	medium	getma.org/?cm=msa&ty=f&p=DLG1_HUMAN&rb=106&re=223&var=E133Q	NA	getma.org/?cm=var&var=hg19,3,196921382,C,G&fts=all	E133Q	--	--	1																																		DLG1_uc011bud.1_5'UTR|DLG1_uc003fxn.3_Missense_Mutation_p.E133Q|DLG1_uc011bue.1_Missense_Mutation_p.E133Q|DLG1_uc010ial.2_Missense_Mutation_p.E133Q|DLG1_uc011buf.1_RNA|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Missense_Mutation_p.E133Q	1,1			probably_damaging(0.996)	p.E133Q	NM_001098424	NP_001091894		tolerated_low_confidence(0.1)	1,1	DLG1_HUMAN	DLG1	HGNC	Q12959	DLG1_HUMAN	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)	F2Z2L0_HUMAN,C9JUA9_HUMAN,C9JN61_HUMAN,C9J110_HUMAN,A8MUT6_HUMAN		5	587	-	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	UPI000013CD25	133					SNV	DLG1,missense_variant,p.Glu133Gln,ENST00000346964,NM_004087.2;DLG1,missense_variant,p.Glu133Gln,ENST00000357674,NM_001204386.1;DLG1,missense_variant,p.Glu133Gln,ENST00000314062,;DLG1,missense_variant,p.Glu133Gln,ENST00000419354,;DLG1,missense_variant,p.Glu133Gln,ENST00000448528,NM_001098424.1;DLG1,missense_variant,p.Glu133Gln,ENST00000422288,;DLG1,missense_variant,p.Glu133Gln,ENST00000392382,;DLG1,missense_variant,p.Glu133Gln,ENST00000450955,;DLG1,missense_variant,p.Glu133Gln,ENST00000392380,;DLG1,missense_variant,p.Glu133Gln,ENST00000456699,;DLG1,missense_variant,p.Glu133Gln,ENST00000419553,;DLG1,missense_variant,p.Glu37Gln,ENST00000453607,;DLG1,downstream_gene_variant,,ENST00000436682,;DLG1,non_coding_transcript_exon_variant,,ENST00000485409,;DLG1,downstream_gene_variant,,ENST00000469073,;DLG1,missense_variant,p.Glu133Gln,ENST00000392381,;DLG1,missense_variant,p.Glu133Gln,ENST00000419227,;DLG1,non_coding_transcript_exon_variant,,ENST00000471733,;	uc003fxo.3	c.397G>C	684/3994	3	3			c.397G>C						3	SNP	c.(397-399)GAA>CAA	63	63			ovary(3)	3	Broad	discs, large homolog 1 isoform 1			196921382		0.353	ENSG00000075711	4475	g.chr3:196921382C>G	actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding							223.411866	KEEP	35	31	-1	40	26	35	31	-1	223.42893	40	26	0.512821	1	0	0	0	0	1	0	0	0	--	--		0	G			DLG1_uc011bud.1_5'UTR|DLG1_uc003fxn.3_Missense_Mutation_p.E133Q|DLG1_uc011bue.1_Missense_Mutation_p.E133Q|DLG1_uc010ial.2_Missense_Mutation_p.E133Q|DLG1_uc011buf.1_RNA|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Missense_Mutation_p.E133Q	201	GBM-27-2523-TP	p.E133Q	C	TGAACCAATTCTGGACCTATC	NM_001098424	NP_001091894	196921382	Q12959	DLG1_HUMAN	0	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)	5	587	-	G	G	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Missense_Mutation	133						
DLG4	1742	broad.mit.edu	GRCh37	17	7121951	7121951	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-02-2470-01	TCGA-02-2470-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399510.2:c.27G>C	p.Arg9Ser	p.R9S	ENST00000399510	NM_001365.3	9	agG/agC	0			1			G		uc002get.3	protein_coding					-/2175									ovary(1)|breast(1)	2	c.(25-27)AGG>AGC	1293			post-synaptic density protein 95 isoform 1				ENSP00000382425											COSM3403176		.		ENST00000399506	Transcript			axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	ENSG00000132535	g.chr17:7121951C>G	2903			MODIFIER		0	neutral	getma.org/?cm=msa&ty=f&p=B7Z3U2_HUMAN&rb=1&re=49&var=R9S	NA	getma.org/?cm=var&var=hg19,17,7121951,C,G&fts=all	R9S	--	--	1																																		DLG4_uc010cly.2_5'Flank|DLG4_uc010vto.1_Missense_Mutation_p.R9S|DLG4_uc002geu.2_5'Flank|ACADVL_uc010vtp.1_Intron|ACADVL_uc010vtq.1_5'Flank|ACADVL_uc002gev.2_5'Flank|ACADVL_uc002gew.2_5'Flank|ACADVL_uc002gex.2_5'Flank	1				p.R9S	NM_001365	NP_001356			1	DLG4_HUMAN	DLG4	HGNC	P78352	DLG4_HUMAN			Q3ZCU5_HUMAN,K7EKU8_HUMAN,K7EKP9_HUMAN,B7Z647_HUMAN		2	1228	-			UPI00005627FB	Error:Variant_position_missing_in_P78352_after_alignment					SNV	DLG4,missense_variant,p.Arg9Ser,ENST00000399510,NM_001365.3;ACADVL,intron_variant,,ENST00000543245,NM_001270447.1;DLG4,upstream_gene_variant,,ENST00000399506,;DLG4,upstream_gene_variant,,ENST00000302955,NM_001128827.1;ACADVL,upstream_gene_variant,,ENST00000356839,NM_001270448.1,NM_000018.3;ACADVL,upstream_gene_variant,,ENST00000350303,NM_001033859.2;ACADVL,upstream_gene_variant,,ENST00000542255,;DLG4,upstream_gene_variant,,ENST00000485100,;DLG4,upstream_gene_variant,,ENST00000451807,;ACADVL,upstream_gene_variant,,ENST00000583312,;DLG4,upstream_gene_variant,,ENST00000447163,;ACADVL,upstream_gene_variant,,ENST00000579546,;ACADVL,upstream_gene_variant,,ENST00000584103,;ACADVL,upstream_gene_variant,,ENST00000579886,;MIR324,downstream_gene_variant,,ENST00000362183,;ACADVL,upstream_gene_variant,,ENST00000581562,;ACADVL,upstream_gene_variant,,ENST00000577857,;ACADVL,upstream_gene_variant,,ENST00000322910,;ACADVL,upstream_gene_variant,,ENST00000578711,;ACADVL,upstream_gene_variant,,ENST00000579425,;ACADVL,upstream_gene_variant,,ENST00000577191,;ACADVL,upstream_gene_variant,,ENST00000583858,;ACADVL,upstream_gene_variant,,ENST00000585203,;ACADVL,upstream_gene_variant,,ENST00000579286,;ACADVL,upstream_gene_variant,,ENST00000582379,;ACADVL,upstream_gene_variant,,ENST00000577433,;ACADVL,upstream_gene_variant,,ENST00000581378,;ACADVL,upstream_gene_variant,,ENST00000582056,;ACADVL,upstream_gene_variant,,ENST00000578269,;ACADVL,upstream_gene_variant,,ENST00000578824,;ACADVL,upstream_gene_variant,,ENST00000582356,;ACADVL,upstream_gene_variant,,ENST00000583760,;ACADVL,upstream_gene_variant,,ENST00000582166,;ACADVL,upstream_gene_variant,,ENST00000578421,;ACADVL,upstream_gene_variant,,ENST00000580263,;ACADVL,upstream_gene_variant,,ENST00000580365,;ACADVL,upstream_gene_variant,,ENST00000578579,;	uc002get.3	c.27G>C	-/3185	3	3			c.27G>C						17	SNP	c.(25-27)AGG>AGC	61	61			ovary(1)|breast(1)	2	Broad	post-synaptic density protein 95 isoform 1			7121951		0.592	ENSG00000132535	4478	g.chr17:7121951C>G	axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding							8.221073	KEEP	2	1	-1	3	2	2	1	-1	8.331376	3	2	0.375	1	0	0	0	0	1	0	0	0	--	--		0	G			DLG4_uc010cly.2_5'Flank|DLG4_uc010vto.1_Missense_Mutation_p.R9S|DLG4_uc002geu.2_5'Flank|ACADVL_uc010vtp.1_Intron|ACADVL_uc010vtq.1_5'Flank|ACADVL_uc002gev.2_5'Flank|ACADVL_uc002gew.2_5'Flank|ACADVL_uc002gex.2_5'Flank	5	GBM-02-2470-TP	p.R9S	C	AGAGGGCTGACCTGGGAGCTA	NM_001365	NP_001356	7121951	P78352	DLG4_HUMAN	0			2	1228	-	G	G			Missense_Mutation	Error:Variant_position_missing_in_P78352_after_alignment						
DLG5	9231	broad.mit.edu	GRCh37	10	79577582	79577582	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0876-01	TCGA-06-0876-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372391.2:c.3737del	p.Met1246ArgfsTer62	p.M1246Rfs*62	ENST00000372391	NM_004747.3	1246	aTg/ag	0			1			-	M/X	uc001jzk.2	protein_coding	YES	CCDS7353.2			3737/5760									ovary(5)|breast(3)	8	c.(3736-3738)ATGfs			hmmpanther:PTHR13865	discs large homolog 5				ENSP00000361467		18/32										18/32	.		ENST00000372391	Transcript			cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	ENSG00000151208	g.chr10:79577582delA	2904			HIGH								--	--	1																																		DLG5_uc001jzi.2_Frame_Shift_Del_p.M1fs|DLG5_uc001jzj.2_Frame_Shift_Del_p.M661fs|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Frame_Shift_Del_p.M850fs		1			p.M1246fs	NM_004747	NP_004738				DLG5_HUMAN	DLG5	HGNC	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)				18	3807	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		UPI0000470041	1246					deletion	DLG5,frameshift_variant,p.Met1246ArgfsTer62,ENST00000372391,NM_004747.3;DLG5,frameshift_variant,p.Met906ArgfsTer62,ENST00000372388,;DLG5,frameshift_variant,p.Met207ArgfsTer62,ENST00000424842,;DLG5,non_coding_transcript_exon_variant,,ENST00000459739,;DLG5,3_prime_UTR_variant,,ENST00000468332,;DLG5,non_coding_transcript_exon_variant,,ENST00000475613,;DLG5,non_coding_transcript_exon_variant,,ENST00000463362,;DLG5,non_coding_transcript_exon_variant,,ENST00000476354,;DLG5,downstream_gene_variant,,ENST00000466198,;	uc001jzk.2	c.3737delT	3743/7415	5	5			c.3737delT						10	DEL	c.(3736-3738)ATGfs	42	42			ovary(5)|breast(3)	8	Broad	discs large homolog 5			79577582		0.597	ENSG00000151208	4479	g.chr10:79577582delA	cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity																				0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			DLG5_uc001jzi.2_Frame_Shift_Del_p.M1fs|DLG5_uc001jzj.2_Frame_Shift_Del_p.M661fs|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Frame_Shift_Del_p.M850fs	72	GBM-06-0876-TP	p.M1246fs	A	GGTGGCTCTCATCTCGGAGTA	NM_004747	NP_004738	79577582	Q8TDM6	DLG5_HUMAN	0	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		18	3807	-	-	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Frame_Shift_Del	1246						
DLG5	9231	broad.mit.edu	GRCh37	10	79581860	79581860	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G			TCGA-06-2567-01	TCGA-06-2567-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372391.2:c.2383-1G>C		p.X795_splice	ENST00000372391	NM_004747.3	795		0			1			G		uc001jzk.2	protein_coding	YES	CCDS7353.2			2383/5760									ovary(5)|breast(3)	8	c.e15-1				discs large homolog 5				ENSP00000361467											COSM3397261		.		ENST00000372391	Transcript			cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	ENSG00000151208	g.chr10:79581860C>G	2904			HIGH	14/31							--	--	1																																		DLG5_uc001jzi.2_5'Flank|DLG5_uc001jzj.2_Intron|DLG5_uc009xru.1_Splice_Site|DLG5_uc001jzl.3_Splice_Site_p.V399_splice	1	1			p.V795_splice	NM_004747	NP_004738			1	DLG5_HUMAN	DLG5	HGNC	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)				15	2453	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		UPI0000470041						SNV	DLG5,splice_acceptor_variant,,ENST00000372391,NM_004747.3;DLG5,intron_variant,,ENST00000372388,;DLG5,intron_variant,,ENST00000424842,;DLG5,upstream_gene_variant,,ENST00000459739,;DLG5,splice_acceptor_variant,,ENST00000475613,;DLG5,splice_acceptor_variant,,ENST00000468332,;DLG5,splice_acceptor_variant,,ENST00000466198,;DLG5,upstream_gene_variant,,ENST00000463362,;DLG5,upstream_gene_variant,,ENST00000476354,;	uc001jzk.2	c.2383_splice	-/7415	5	3			c.2383_splice						10	SNP	c.e15-1	51	51			ovary(5)|breast(3)	8	Broad	discs large homolog 5			79581860		0.512	ENSG00000151208	4479	g.chr10:79581860C>G	cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity							-6.433126	KEEP	0	3	-1	33	43	0	3	-1	7.57362	33	43	0.046875	1	0	0	0	0	0	0	0	1	--	--		0	G			DLG5_uc001jzi.2_5'Flank|DLG5_uc001jzj.2_Intron|DLG5_uc009xru.1_Splice_Site|DLG5_uc001jzl.3_Splice_Site_p.V399_splice	89	GBM-06-2567-TP	p.V795_splice	C	GAGGGAATACCTAGGCAGGGA	NM_004747	NP_004738	79581860	Q8TDM6	DLG5_HUMAN	0	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		15	2453	-	G	G	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Splice_Site							
DLG5	9231	broad.mit.edu	GRCh37	10	79566617	79566617	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-5410-01	TCGA-06-5410-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372391.2:c.4866G>T	p.Val1622=	p.V1622=	ENST00000372391	NM_004747.3	1622	gtG/gtT	0			1			A	V	uc001jzk.2	protein_coding	YES	CCDS7353.2			4866/5760									ovary(5)|breast(3)	8	c.(4864-4866)GTG>GTT			Gene3D:2.30.30.40,PROSITE_profiles:PS50002,hmmpanther:PTHR13865,SMART_domains:SM00326,Superfamily_domains:SSF50044	discs large homolog 5				ENSP00000361467		26/32									COSM3397259	26/32	.		ENST00000372391	Transcript			cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	ENSG00000151208	g.chr10:79566617C>A	2904			LOW								--	--	1																																		DLG5_uc001jzi.2_Silent_p.V377V|DLG5_uc001jzj.2_Silent_p.V1037V|DLG5_uc009xru.1_RNA	1	1			p.V1622V	NM_004747	NP_004738			1	DLG5_HUMAN	DLG5	HGNC	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)				26	4936	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		UPI0000470041	1622			SH3.		SNV	DLG5,synonymous_variant,p.=,ENST00000372391,NM_004747.3;DLG5,synonymous_variant,p.=,ENST00000372388,;DLG5,synonymous_variant,p.=,ENST00000424842,;DLG5,non_coding_transcript_exon_variant,,ENST00000459739,;DLG5,non_coding_transcript_exon_variant,,ENST00000489547,;DLG5,non_coding_transcript_exon_variant,,ENST00000484525,;DLG5,3_prime_UTR_variant,,ENST00000468332,;DLG5,non_coding_transcript_exon_variant,,ENST00000475613,;DLG5,non_coding_transcript_exon_variant,,ENST00000463362,;	uc001jzk.2	c.4866G>T	4872/7415	1	1			c.4866G>T						10	SNP	c.(4864-4866)GTG>GTT	56	56			ovary(5)|breast(3)	8	Broad	discs large homolog 5			79566617		0.572	ENSG00000151208	4479	g.chr10:79566617C>A	cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity							-33.444886	KEEP	2	2	0.5	77	100	2	2	0.5	7.173195	77	100	0.024691	1	0	0	0	0	0	0	1	0	--	--		0	A			DLG5_uc001jzi.2_Silent_p.V377V|DLG5_uc001jzj.2_Silent_p.V1037V|DLG5_uc009xru.1_RNA	93	GBM-06-5410-TP	p.V1622V	C	AGGTGTCATCCACGTAGAGGA	NM_004747	NP_004738	79566617	Q8TDM6	DLG5_HUMAN	0	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		26	4936	-	A	A	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Silent	1622			SH3.			
DLG5	0	broad.mit.edu	GRCh37	10	79571808	79571808	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01	TCGA-14-4157-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372391.2:c.4196G>A	p.Gly1399Asp	p.G1399D	ENST00000372391	NM_004747.3	1399	gGc/gAc	0			1			T	G/D	uc001jzk.2	protein_coding	YES	CCDS7353.2			4196/5760									ovary(5)|breast(3)	8	c.(4195-4197)GGC>GAC			Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR13865,SMART_domains:SM00228,Superfamily_domains:SSF50156	discs large homolog 5				ENSP00000361467		22/32									COSM3397260	22/32	.		ENST00000372391	Transcript			cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	ENSG00000151208	g.chr10:79571808C>T	2904			MODERATE		2.55	medium	getma.org/?cm=msa&ty=f&p=DLG5_HUMAN&rb=1350&re=1426&var=G1399D	getma.org/pdb.php?prot=DLG5_HUMAN&from=1350&to=1426&var=G1399D	getma.org/?cm=var&var=hg19,10,79571808,C,T&fts=all	G1399D	--	--	1																																		DLG5_uc001jzi.2_Missense_Mutation_p.G154D|DLG5_uc001jzj.2_Missense_Mutation_p.G814D|DLG5_uc009xru.1_RNA	1	1		probably_damaging(0.983)	p.G1399D	NM_004747	NP_004738		deleterious(0)	1	DLG5_HUMAN	DLG5	HGNC	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)				22	4266	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		UPI0000470041	1399			PDZ 3.		SNV	DLG5,missense_variant,p.Gly1399Asp,ENST00000372391,NM_004747.3;DLG5,missense_variant,p.Gly1059Asp,ENST00000372388,;DLG5,missense_variant,p.Gly360Asp,ENST00000424842,;DLG5,non_coding_transcript_exon_variant,,ENST00000459739,;DLG5,non_coding_transcript_exon_variant,,ENST00000489547,;DLG5,upstream_gene_variant,,ENST00000484525,;DLG5,3_prime_UTR_variant,,ENST00000468332,;DLG5,non_coding_transcript_exon_variant,,ENST00000475613,;DLG5,non_coding_transcript_exon_variant,,ENST00000463362,;DLG5,downstream_gene_variant,,ENST00000476354,;	uc001jzk.2	c.4196G>A	4202/7415	1	1			c.4196G>A						10	SNP	c.(4195-4197)GGC>GAC	15	15			ovary(5)|breast(3)	8	Broad	discs large homolog 5			79571808		0.642	ENSG00000151208	4479	g.chr10:79571808C>T	cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity							-25.024862	KEEP	1	5	-1	59	110	1	5	-1	8.052878	59	110	0.035461	1	0	0	0	0	1	0	0	0	--	--		0	T			DLG5_uc001jzi.2_Missense_Mutation_p.G154D|DLG5_uc001jzj.2_Missense_Mutation_p.G814D|DLG5_uc009xru.1_RNA	152	GBM-14-4157-TP	p.G1399D	C	CAGGTTTATGCCGTTGAACTG	NM_004747	NP_004738	79571808	Q8TDM6	DLG5_HUMAN	0	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		22	4266	-	T	T	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Missense_Mutation	1399			PDZ 3.			
DLG5	0	broad.mit.edu	GRCh37	10	79581222	79581222	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-1442-01	TCGA-26-1442-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372391.2:c.3020C>T	p.Ala1007Val	p.A1007V	ENST00000372391	NM_004747.3	1007	gCg/gTg	0			1			A	A/V	uc001jzk.2	protein_coding	YES	CCDS7353.2			3020/5760									ovary(5)|breast(3)	8	c.(3019-3021)GCG>GTG			hmmpanther:PTHR13865	discs large homolog 5				ENSP00000361467		15/32	8.29E-06					1.60E-05			rs748210887,COSM1349237	15/32	.		ENST00000372391	Transcript			cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	ENSG00000151208	g.chr10:79581222G>A	2904			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=DLG5_HUMAN&rb=984&re=1183&var=A1007V	NA	getma.org/?cm=var&var=hg19,10,79581222,G,A&fts=all	A1007V	--	--	1																																		DLG5_uc001jzi.2_5'Flank|DLG5_uc001jzj.2_Intron|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Missense_Mutation_p.A611V	0,1	1		benign(0)	p.A1007V	NM_004747	NP_004738		tolerated(0.28)	0,1	DLG5_HUMAN	DLG5	HGNC	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)				15	3090	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		UPI0000470041	1007			Pro-rich.		SNV	DLG5,missense_variant,p.Ala1007Val,ENST00000372391,NM_004747.3;DLG5,intron_variant,,ENST00000372388,;DLG5,intron_variant,,ENST00000424842,;DLG5,non_coding_transcript_exon_variant,,ENST00000459739,;DLG5,3_prime_UTR_variant,,ENST00000468332,;DLG5,non_coding_transcript_exon_variant,,ENST00000475613,;DLG5,upstream_gene_variant,,ENST00000463362,;DLG5,upstream_gene_variant,,ENST00000476354,;DLG5,downstream_gene_variant,,ENST00000466198,;	uc001jzk.2	c.3020C>T	3026/7415	2	2			c.3020C>T						10	SNP	c.(3019-3021)GCG>GTG	21	21			ovary(5)|breast(3)	8	Broad	discs large homolog 5			79581222		0.592	ENSG00000151208	4479	g.chr10:79581222G>A	cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity							81.704522	KEEP	20	18	-1	59	54	20	18	-1	88.097963	59	54	0.267176	1	0	0	0	0	1	0	0	0	--	--		0	A			DLG5_uc001jzi.2_5'Flank|DLG5_uc001jzj.2_Intron|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Missense_Mutation_p.A611V	180	GBM-26-1442-TP	p.A1007V	G	CAGAGGCCCCGCCCTCTTGGA	NM_004747	NP_004738	79581222	Q8TDM6	DLG5_HUMAN	0	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		15	3090	-	A	A	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Missense_Mutation	1007			Pro-rich.			
DLGAP1	9229	broad.mit.edu	GRCh37	18	3534543	3534543	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0214-01	TCGA-06-0214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315677.3:c.2128del	p.Leu710TrpfsTer8	p.L710Wfs*8	ENST00000315677	NM_004746.3	710	Ctg/tg	0			1			-	L/X	uc002kmf.2	protein_coding	YES	CCDS11836.1			2128/2934									ovary(2)|pancreas(1)|skin(1)	4	c.(2128-2130)CTGfs			hmmpanther:PTHR12353:SF7,hmmpanther:PTHR12353,Pfam_domain:PF03359	discs large homolog-associated protein 1 isoform				ENSP00000316377		13-Oct										13-Oct	.		ENST00000315677	Transcript			synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		ENSG00000170579	g.chr18:3534543delG	2905			HIGH								--	--	1																																		DLGAP1_uc010wyz.1_Frame_Shift_Del_p.L710fs|DLGAP1_uc002kme.1_Frame_Shift_Del_p.L408fs|DLGAP1_uc010dkn.2_Frame_Shift_Del_p.L418fs|DLGAP1_uc010wyw.1_Frame_Shift_Del_p.L416fs|DLGAP1_uc010wyx.1_Frame_Shift_Del_p.L432fs|DLGAP1_uc010wyy.1_Frame_Shift_Del_p.L394fs|DLGAP1_uc002kmg.2_Frame_Shift_Del_p.L408fs		1			p.L710fs	NM_004746	NP_004737				DLGP1_HUMAN	DLGAP1	HGNC	O14490	DLGP1_HUMAN					7	2195	-		Colorectal(8;0.0257)	UPI0000129490	710					deletion	DLGAP1,frameshift_variant,p.Leu710TrpfsTer8,ENST00000315677,NM_004746.3;DLGAP1,frameshift_variant,p.Leu426TrpfsTer8,ENST00000400150,NM_001242763.1;DLGAP1,frameshift_variant,p.Leu408TrpfsTer8,ENST00000400147,NM_001003809.2;DLGAP1,frameshift_variant,p.Leu416TrpfsTer8,ENST00000400155,NM_001242764.1;DLGAP1,frameshift_variant,p.Leu400TrpfsTer8,ENST00000400149,;DLGAP1,frameshift_variant,p.Leu710TrpfsTer8,ENST00000581527,NM_001242761.1;DLGAP1,frameshift_variant,p.Leu710TrpfsTer8,ENST00000584874,;DLGAP1,frameshift_variant,p.Leu710TrpfsTer8,ENST00000515196,;DLGAP1,frameshift_variant,p.Leu418TrpfsTer8,ENST00000539435,NM_001242766.1;DLGAP1,frameshift_variant,p.Leu394TrpfsTer8,ENST00000534970,NM_001242762.1;DLGAP1,frameshift_variant,p.Leu416TrpfsTer8,ENST00000581699,;DLGAP1,frameshift_variant,p.Leu408TrpfsTer8,ENST00000400145,NM_001242765.1;	uc002kmf.2	c.2128delC	2724/6683	5	5			c.2128delC						18	DEL	c.(2128-2130)CTGfs	47	47			ovary(2)|pancreas(1)|skin(1)	4	Broad	discs large homolog-associated protein 1 isoform			3534543		0.498	ENSG00000170579	4480	g.chr18:3534543delG	synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane																					0.07	1	1	0	1	0	0	0	0	0	--	--		0	-			DLGAP1_uc010wyz.1_Frame_Shift_Del_p.L710fs|DLGAP1_uc002kme.1_Frame_Shift_Del_p.L408fs|DLGAP1_uc010dkn.2_Frame_Shift_Del_p.L418fs|DLGAP1_uc010wyw.1_Frame_Shift_Del_p.L416fs|DLGAP1_uc010wyx.1_Frame_Shift_Del_p.L432fs|DLGAP1_uc010wyy.1_Frame_Shift_Del_p.L394fs|DLGAP1_uc002kmg.2_Frame_Shift_Del_p.L408fs	50	GBM-06-0214-TP	p.L710fs	G	GAATTTTCCAGATTATCATGG	NM_004746	NP_004737	3534543	O14490	DLGP1_HUMAN	0			7	2195	-	-	-		Colorectal(8;0.0257)	Frame_Shift_Del	710						
DLGAP2	9228	broad.mit.edu	GRCh37	8	1497705	1497705	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000421627.2:c.846C>T	p.Asp282=	p.D282=	ENST00000421627	NM_004745.4	282	gaC/gaT	0			1			T	D	uc003wpl.2	protein_coding	YES	CCDS47760.1			846/2928										0	c.(844-846)GAC>GAT			hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF3	discs large-associated protein 2				ENSP00000400258		12-Feb	8.26E-06							6.12E-05	rs758718171,COSM1552252,COSM1552253	12-Feb	.		ENST00000421627	Transcript			neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	ENSG00000198010	g.chr8:1497705C>T	2906			LOW								--	--	1																																		DLGAP2_uc003wpm.2_Silent_p.D282D	0,1,1	1			p.D282D	NM_004745	NP_004736			0,1,1	DLGP2_HUMAN	DLGAP2	HGNC	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)			2	943	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	UPI000021BFBC	361					SNV	DLGAP2,synonymous_variant,p.=,ENST00000421627,NM_004745.4,NM_001277161.1;DLGAP2,synonymous_variant,p.=,ENST00000520901,;	uc003wpl.2	c.846C>T	980/10132	1	1			c.846C>T						8	SNP	c.(844-846)GAC>GAT	14	14				0	Broad	discs large-associated protein 2			1497705		0.647	ENSG00000198010	4481	g.chr8:1497705C>T	neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding							45.399331	KEEP	7	9	-1	12	17	7	9	-1	46.114305	12	17	0.363636	1	0	0	0	0	0	0	1	0	--	--		0	T			DLGAP2_uc003wpm.2_Silent_p.D282D	18	GBM-06-0137-TP	p.D282D	C	TGACGCCCGACGCCAAGTACC	NM_004745	NP_004736	1497705	Q9P1A6	DLGP2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	2	943	+	T	T		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	Silent	361						
DLGAP2	9228	broad.mit.edu	GRCh37	8	1496906	1496906	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01	TCGA-06-0876-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000421627.2:c.47G>A	p.Gly16Glu	p.G16E	ENST00000421627	NM_004745.4	16	gGg/gAg	0			1			A	G/E	uc003wpl.2	protein_coding	YES	CCDS47760.1			47/2928										0	c.(46-48)GGG>GAG			hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF3	discs large-associated protein 2				ENSP00000400258		12-Feb									COSM2152080,COSM2152081	12-Feb	.		ENST00000421627	Transcript			neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	ENSG00000198010	g.chr8:1496906G>A	2906			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=DLGP2_HUMAN&rb=1&re=200&var=G95E	NA	getma.org/?cm=var&var=hg19,8,1496906,G,A&fts=all	G95E	--	--	1																																		DLGAP2_uc003wpm.2_Missense_Mutation_p.G16E	1,1	1		benign(0.097)	p.G16E	NM_004745	NP_004736		tolerated(0.23)	1,1	DLGP2_HUMAN	DLGAP2	HGNC	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)			2	144	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	UPI000021BFBC	95					SNV	DLGAP2,missense_variant,p.Gly16Glu,ENST00000421627,NM_004745.4,NM_001277161.1;DLGAP2,missense_variant,p.Gly33Glu,ENST00000520901,;	uc003wpl.2	c.47G>A	181/10132	1	1			c.47G>A						8	SNP	c.(46-48)GGG>GAG	58	58				0	Broad	discs large-associated protein 2			1496906		0.721	ENSG00000198010	4481	g.chr8:1496906G>A	neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding							33.720689	KEEP	10	9	-1	10	9	10	9	-1	33.73029	10	9	0.478261	1	0	0	0	0	1	0	0	0	--	--		0	A			DLGAP2_uc003wpm.2_Missense_Mutation_p.G16E	72	GBM-06-0876-TP	p.G16E	G	CTGTGTTCCGGGCACACGTGT	NM_004745	NP_004736	1496906	Q9P1A6	DLGP2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	2	144	+	A	A		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	Missense_Mutation	95						
DLGAP2	0	broad.mit.edu	GRCh37	8	1574988	1574988	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01	TCGA-76-6193-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000421627.2:c.1285C>T	p.Arg429Cys	p.R429C	ENST00000421627	NM_004745.4	429	Cgc/Tgc	0			1			T	R/C	uc003wpl.2	protein_coding	YES	CCDS47760.1			1285/2928										0	c.(1285-1287)CGC>TGC			hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF3	discs large-associated protein 2				ENSP00000400258		12-Apr	1.66E-05		0.000363						rs747744035,COSM2872709,COSM2872710	12-Apr	.		ENST00000421627	Transcript			neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	ENSG00000198010	g.chr8:1574988C>T	2906			MODERATE		2.79	medium	getma.org/?cm=msa&ty=f&p=DLGP2_HUMAN&rb=401&re=600&var=R508C	NA	getma.org/?cm=var&var=hg19,8,1574988,C,T&fts=all	R508C	--	--	1																																		DLGAP2_uc003wpm.2_Missense_Mutation_p.R429C	0,1,1	1		probably_damaging(0.953)	p.R429C	NM_004745	NP_004736		deleterious(0.01)	0,1,1	DLGP2_HUMAN	DLGAP2	HGNC	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)			4	1382	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	UPI000021BFBC	508					SNV	DLGAP2,missense_variant,p.Arg429Cys,ENST00000421627,NM_004745.4,NM_001277161.1;DLGAP2,missense_variant,p.Arg446Cys,ENST00000520901,;RP11-666I19.2,upstream_gene_variant,,ENST00000518009,;	uc003wpl.2	c.1285C>T	1419/10132	1	1			c.1285C>T						8	SNP	c.(1285-1287)CGC>TGC	11	11				0	Broad	discs large-associated protein 2			1574988		0.617	ENSG00000198010	4481	g.chr8:1574988C>T	neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding							6.415784	KEEP	1	2	-1	9	7	1	2	-1	7.878802	9	7	0.1875	1	0	0	0	0	1	0	0	0	--	--		0	T			DLGAP2_uc003wpm.2_Missense_Mutation_p.R429C	276	GBM-76-6193-TP	p.R429C	C	CCCGAAATTCCGCTCCCGGAA	NM_004745	NP_004736	1574988	Q9P1A6	DLGP2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	4	1382	+	T	T		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	Missense_Mutation	508						
DLGAP2	9228		GRCh37	8	1649565	1649565	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000421627.2:c.2921G>A	p.Arg974Gln	p.R974Q	ENST00000421627	NM_004745.4	974	cGg/cAg	0																																																																																																																																																																																																																																												
DLGAP2	9228		GRCh37	8	1581155	1581155	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000421627.2:c.1513G>A	p.Glu505Lys	p.E505K	ENST00000421627	NM_004745.4	505	Gaa/Aaa	0																																																																																																																																																																																																																																												
DLGAP4	22839	broad.mit.edu	GRCh37	20	35075140	35075140	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01	TCGA-02-0055-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373913.3:c.1448G>A	p.Cys483Tyr	p.C483Y	ENST00000373913		483	tGc/tAc	0			1			A	C/Y	uc002xff.2	protein_coding					1448/2979									skin(2)|ovary(1)	3	c.(1447-1449)TGC>TAC			Low_complexity_(Seg):seg,hmmpanther:PTHR12353:SF19,hmmpanther:PTHR12353	disks large-associated protein 4 isoform a				ENSP00000341633		11-May	8.24E-06			0.000117					rs757121791,COSM2149029	11-May	.		ENST00000339266	Transcript			cell-cell signaling	membrane	protein binding	ENSG00000080845	g.chr20:35075140G>A	24476			MODERATE		2.395	medium	getma.org/?cm=msa&ty=f&p=DLGP4_HUMAN&rb=401&re=600&var=C483Y	NA	getma.org/?cm=var&var=hg19,20,35075140,G,A&fts=all	C483Y	--	--	1																																		DLGAP4_uc010zvp.1_Missense_Mutation_p.C483Y	0,1			possibly_damaging(0.791)	p.C483Y	NM_014902	NP_055717		tolerated(0.05)	0,1	DLGP4_HUMAN	DLGAP4	HGNC	Q9Y2H0	DLGP4_HUMAN					7	1883	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	UPI0000206454	483					SNV	DLGAP4,missense_variant,p.Cys483Tyr,ENST00000373913,;DLGAP4,missense_variant,p.Cys483Tyr,ENST00000401952,NM_014902.4;DLGAP4,missense_variant,p.Cys483Tyr,ENST00000339266,;DLGAP4,missense_variant,p.Cys483Tyr,ENST00000373907,;	uc002xff.2	c.1448G>A	1448/4583	1	1			c.1448G>A						20	SNP	c.(1447-1449)TGC>TAC	58	58			skin(2)|ovary(1)	3	Broad	disks large-associated protein 4 isoform a			35075140		0.647	ENSG00000080845	4483	g.chr20:35075140G>A	cell-cell signaling	membrane	protein binding							57.901689	KEEP	9	18	-1	26	24	9	18	-1	59.240246	26	24	0.348485	1	0	0	0	0	1	0	0	0	--	--		0	A			DLGAP4_uc010zvp.1_Missense_Mutation_p.C483Y	4	GBM-02-0055-TP	p.C483Y	G	GAGGCGGCCTGCGAGTCAGCC	NM_014902	NP_055717	35075140	Q9Y2H0	DLGP4_HUMAN	0			7	1883	+	A	A	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	Missense_Mutation	483						
DLGAP4	22839	broad.mit.edu	GRCh37	20	35060659	35060659	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373913.3:c.539G>A	p.Arg180Gln	p.R180Q	ENST00000373913		180	cGg/cAg	0			1			A	R/Q	uc002xff.2	protein_coding					539/2979									skin(2)|ovary(1)	3	c.(538-540)CGG>CAG			hmmpanther:PTHR12353:SF19,hmmpanther:PTHR12353	disks large-associated protein 4 isoform a				ENSP00000341633		11-Jan									COSM2151838	11-Jan	.		ENST00000339266	Transcript			cell-cell signaling	membrane	protein binding	ENSG00000080845	g.chr20:35060659G>A	24476			MODERATE		2.135	medium	getma.org/?cm=msa&ty=f&p=DLGP4_HUMAN&rb=1&re=200&var=R180Q	NA	getma.org/?cm=var&var=hg19,20,35060659,G,A&fts=all	R180Q	2.51	medium	1																																		DLGAP4_uc010zvp.1_Missense_Mutation_p.R180Q	1			probably_damaging(0.999)	p.R180Q	NM_014902	NP_055717		deleterious(0.03)	1	DLGP4_HUMAN	DLGAP4	HGNC	Q9Y2H0	DLGP4_HUMAN					3	974	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	UPI0000206454	180					SNV	DLGAP4,missense_variant,p.Arg180Gln,ENST00000373913,;DLGAP4,missense_variant,p.Arg180Gln,ENST00000401952,NM_014902.4;DLGAP4,missense_variant,p.Arg180Gln,ENST00000339266,;DLGAP4,missense_variant,p.Arg180Gln,ENST00000373907,;	uc002xff.2	c.539G>A	539/4583	2	2			c.539G>A						20	SNP	c.(538-540)CGG>CAG	43	43			skin(2)|ovary(1)	3	Broad	disks large-associated protein 4 isoform a			35060659		0.647	ENSG00000080845	4483	g.chr20:35060659G>A	cell-cell signaling	membrane	protein binding							95.563187	KEEP	18	18	-1	31	37	18	18	-1	97.743927	31	37	0.340206	1	0	0	0	0	1	0	0	0	2.51	medium		0	A			DLGAP4_uc010zvp.1_Missense_Mutation_p.R180Q	68	GBM-06-0747-TP	p.R180Q	G	GGCAAGGGCCGGAGGGCCAAA	NM_014902	NP_055717	35060659	Q9Y2H0	DLGP4_HUMAN	0			3	974	+	A	A	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	Missense_Mutation	180						
DLGAP4	0	broad.mit.edu	GRCh37	20	35060225	35060225	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-4097-01	TCGA-41-4097-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339266.5:c.105G>A	p.Ser35=	p.S35=	ENST00000339266		35	tcG/tcA	0	A:0.0002		1			A	S	uc002xff.2	protein_coding					105/2979									skin(2)|ovary(1)	3	c.(103-105)TCG>TCA			hmmpanther:PTHR12353:SF19,hmmpanther:PTHR12353	disks large-associated protein 4 isoform a			A:0	ENSP00000341633		11-Jan	2.47E-05	0.000209						6.14E-05	rs371870979,COSM3405048	11-Jan	.		ENST00000339266	Transcript			cell-cell signaling	membrane	protein binding	ENSG00000080845	g.chr20:35060225G>A	24476			LOW								--	--	1																																		DLGAP4_uc010zvp.1_Silent_p.S35S	0,1				p.S35S	NM_014902	NP_055717			0,1	DLGP4_HUMAN	DLGAP4	HGNC	Q9Y2H0	DLGP4_HUMAN					3	540	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	UPI0000206454	35					SNV	DLGAP4,synonymous_variant,p.=,ENST00000373913,;DLGAP4,synonymous_variant,p.=,ENST00000401952,NM_014902.4;DLGAP4,synonymous_variant,p.=,ENST00000339266,;DLGAP4,synonymous_variant,p.=,ENST00000373907,;	uc002xff.2	c.105G>A	105/4583	2	2			c.105G>A						20	SNP	c.(103-105)TCG>TCA	33	33			skin(2)|ovary(1)	3	Broad	disks large-associated protein 4 isoform a			35060225		0.701	ENSG00000080845	4483	g.chr20:35060225G>A	cell-cell signaling	membrane	protein binding							35.272758	KEEP	6	15	-1	44	49	6	15	-1	42.57135	44	49	0.192771	1	0	0	0	0	0	0	1	0	--	--		0	A			DLGAP4_uc010zvp.1_Silent_p.S35S	257	GBM-41-4097-TP	p.S35S	G	ACCTGCTGTCGCCCACGGAGG	NM_014902	NP_055717	35060225	Q9Y2H0	DLGP4_HUMAN	0			3	540	+	A	A	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	Silent	35						
DLK1	8788	broad.mit.edu	GRCh37	14	101201218	101201218	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341267.4:c.1137C>T	p.Gly379=	p.G379=	ENST00000341267	NM_003836.5	379	ggC/ggT	0			1			T	G	uc001yhs.3	protein_coding	YES	CCDS9963.1			1137/1152									ovary(2)|breast(1)|skin(1)	4	c.(1135-1137)GGC>GGT			hmmpanther:PTHR24052:SF10,hmmpanther:PTHR24052	delta-like 1 homolog precursor				ENSP00000340292		5-May	2.47E-05	9.86E-05				3.11E-05			rs753638016,COSM3401116	5-May	.		ENST00000341267	Transcript	1		multicellular organismal development	extracellular space|integral to membrane|soluble fraction		ENSG00000185559	g.chr14:101201218C>T	2907			LOW								--	--	1																																		DLK1_uc001yhu.3_Silent_p.G306G	0,1	1			p.G379G	NM_003836	NP_003827			0,1	DLK1_HUMAN	DLK1	HGNC	P80370	DLK1_HUMAN			G3XAH5_HUMAN		5	1290	+		Melanoma(154;0.155)	UPI00001AFE16	379			Cytoplasmic (Potential).		SNV	DLK1,synonymous_variant,p.=,ENST00000341267,NM_003836.5;DLK1,synonymous_variant,p.=,ENST00000331224,;DLK1,downstream_gene_variant,,ENST00000392848,;RP11-566J3.4,upstream_gene_variant,,ENST00000608876,;	uc001yhs.3	c.1137C>T	1379/1700	2	2			c.1137C>T						14	SNP	c.(1135-1137)GGC>GGT	22	22			ovary(2)|breast(1)|skin(1)	4	Broad	delta-like 1 homolog precursor			101201218		0.552	ENSG00000185559	4485	g.chr14:101201218C>T	multicellular organismal development	extracellular space|integral to membrane|soluble fraction								53.886336	KEEP	22	9	-1	72	77	22	9	-1	68.512226	72	77	0.178808	1	0	0	0	0	0	0	1	0	--	--		0	T			DLK1_uc001yhu.3_Silent_p.G306G	5	GBM-02-2470-TP	p.G379G	C	AGGAGGCCGGCGACGAGGAGA	NM_003836	NP_003827	101201218	P80370	DLK1_HUMAN	0			5	1290	+	T	T		Melanoma(154;0.155)	Silent	379			Cytoplasmic (Potential).			
DLK1	0	broad.mit.edu	GRCh37	14	101200827	101200827	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01	TCGA-28-2514-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341267.4:c.746C>T	p.Ala249Val	p.A249V	ENST00000341267	NM_003836.5	249	gCg/gTg	0			1			T	A/V	uc001yhs.3	protein_coding	YES	CCDS9963.1			746/1152									ovary(2)|breast(1)|skin(1)	4	c.(745-747)GCG>GTG			hmmpanther:PTHR24052:SF10,hmmpanther:PTHR24052	delta-like 1 homolog precursor				ENSP00000340292		5-May	2.47E-05					4.65E-05			rs754418195,COSM145321	5-May	.		ENST00000341267	Transcript	1		multicellular organismal development	extracellular space|integral to membrane|soluble fraction		ENSG00000185559	g.chr14:101200827C>T	2907			MODERATE		0.205	neutral	getma.org/?cm=msa&ty=f&p=DLK1_HUMAN&rb=244&re=306&var=A249V	NA	getma.org/?cm=var&var=hg19,14,101200827,C,T&fts=all	A249V	--	--	1																																		DLK1_uc001yhu.3_Intron	0,1	1		benign(0)	p.A249V	NM_003836	NP_003827		tolerated(0.28)	0,1	DLK1_HUMAN	DLK1	HGNC	P80370	DLK1_HUMAN			G3XAH5_HUMAN		5	899	+		Melanoma(154;0.155)	UPI00001AFE16	249			Extracellular (Potential).		SNV	DLK1,missense_variant,p.Ala249Val,ENST00000341267,NM_003836.5;DLK1,intron_variant,,ENST00000331224,;DLK1,downstream_gene_variant,,ENST00000392848,;RP11-566J3.4,upstream_gene_variant,,ENST00000608876,;	uc001yhs.3	c.746C>T	988/1700	2	2			c.746C>T						14	SNP	c.(745-747)GCG>GTG	35	35			ovary(2)|breast(1)|skin(1)	4	Broad	delta-like 1 homolog precursor			101200827		0.682	ENSG00000185559	4485	g.chr14:101200827C>T	multicellular organismal development	extracellular space|integral to membrane|soluble fraction								108.134037	KEEP	20	27	-1	17	28	20	27	-1	108.134037	17	28	0.5	1	0	0	0	0	1	0	0	0	--	--		0	T			DLK1_uc001yhu.3_Intron	214	GBM-28-2514-TP	p.A249V	C	AAGAAGCGCGCGCTGAGCCCC	NM_003836	NP_003827	101200827	P80370	DLK1_HUMAN	0			5	899	+	T	T		Melanoma(154;0.155)	Missense_Mutation	249			Extracellular (Potential).			
DLL1	0	broad.mit.edu	GRCh37	6	170599203	170599203	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-1835-01	TCGA-27-1835-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366756.3:c.25C>T	p.Leu9=	p.L9=	ENST00000366756	NM_005618.3	9	Ctg/Ttg	0			1			A	L	uc003qxm.2	protein_coding	YES	CCDS5313.1			25/2172									lung(4)|ovary(1)	5	c.(25-27)CTG>TTG			Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24044	delta-like 1 precursor				ENSP00000355718		11-Jan	8.44E-06					1.71E-05			rs757868082,COSM2157238	11-Jan	.		ENST00000366756	Transcript	1		cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	ENSG00000198719	g.chr6:170599203G>A	2908			LOW								--	--	1																																		DLL1_uc011ehc.1_Silent_p.L9L|DLL1_uc003qxn.3_Silent_p.L9L	0,1	1			p.L9L	NM_005618	NP_005609			0,1	DLL1_HUMAN	DLL1	HGNC	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)			1	495	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	UPI000004C656	9					SNV	DLL1,synonymous_variant,p.=,ENST00000366756,NM_005618.3;FAM120B,upstream_gene_variant,,ENST00000540480,;	uc003qxm.2	c.25C>T	359/3174	1	1			c.25C>T						6	SNP	c.(25-27)CTG>TTG	51	51			lung(4)|ovary(1)	5	Broad	delta-like 1 precursor			170599203		0.647	ENSG00000198719	4487	g.chr6:170599203G>A	cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			187			187	53.840962	KEEP	8	15	-1	14	19	8	15	-1	54.158738	14	19	0.409091	1	0	0	0	0	0	0	1	0	--	--		0	A			DLL1_uc011ehc.1_Silent_p.L9L|DLL1_uc003qxn.3_Silent_p.L9L	194	GBM-27-1835-TP	p.L9L	G	AGCACCGCCAGGGCCAGCGCG	NM_005618	NP_005609	170599203	O00548	DLL1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	1	495	-	A	A		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	Silent	9						
DLL1	0	broad.mit.edu	GRCh37	6	170592139	170592140	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	TC			TCGA-76-4928-01	TCGA-76-4928-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366756.3:c.2101_2102dupGA	p.Asp701GlufsTer20	p.D701Efs*20	ENST00000366756	NM_005618.3	701	gac/gaGAc	0			1			TC	D/EX	uc003qxm.2	protein_coding	YES	CCDS5313.1			2102-2103/2172									lung(4)|ovary(1)	5	c.(2101-2103)GACfs				delta-like 1 precursor				ENSP00000355718		11-Oct										11-Oct	.		ENST00000366756	Transcript	1		cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	ENSG00000198719	g.chr6:170592139_170592140insTC	2908			HIGH								--	--	1																																				1			p.D701fs	NM_005618	NP_005609				DLL1_HUMAN	DLL1	HGNC	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)			10	2572_2573	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	UPI000004C656	701			Cytoplasmic (Potential).		insertion	DLL1,frameshift_variant,p.Asp701GlufsTer20,ENST00000366756,NM_005618.3;RP5-894D12.3,downstream_gene_variant,,ENST00000607074,;RP5-894D12.3,downstream_gene_variant,,ENST00000438622,;RP5-894D12.3,downstream_gene_variant,,ENST00000422894,;	uc003qxm.2	c.2102_2103insGA	2436-2437/3174	5	5			c.2102_2103insGA						6	INS	c.(2101-2103)GACfs	21	21			lung(4)|ovary(1)	5	Broad	delta-like 1 precursor			170592140		0.485	ENSG00000198719	4487	g.chr6:170592139_170592140insTC	cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			187			187														0.11	1	0	0	1	1	0	0	0	0	--	--		0	TC				268	GBM-76-4928-TP	p.D701fs	-	GGTACTTGGTGTCTTTTGAAGT	NM_005618	NP_005609	170592139	O00548	DLL1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	10	2572_2573	-	TC	TC		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	Frame_Shift_Ins	701			Cytoplasmic (Potential).			
DLX3	0	broad.mit.edu	GRCh37	17	48072315	48072315	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0616-01	TCGA-12-0616-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000434704.2:c.48C>T	p.Ile16=	p.I16=	ENST00000434704	NM_005220.2	16	atC/atT	0			1			A	I	uc002ipy.2	protein_coding	YES	CCDS11556.1			48/864										0	c.(46-48)ATC>ATT			Low_complexity_(Seg):seg,hmmpanther:PTHR24327:SF28,hmmpanther:PTHR24327	distal-less homeobox 3				ENSP00000389870		3-Jan									COSM2153547	3-Jan	.		ENST00000434704	Transcript	1			nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000064195	g.chr17:48072315G>A	2916			LOW								--	--	1																																			1	1			p.I16I	NM_005220	NP_005211			1	DLX3_HUMAN	DLX3	HGNC	O60479	DLX3_HUMAN			F8VXG1_HUMAN		1	274	-			UPI00001294B0	16					SNV	DLX3,synonymous_variant,p.=,ENST00000434704,NM_005220.2;DLX3,upstream_gene_variant,,ENST00000512495,;RP11-1094H24.3,upstream_gene_variant,,ENST00000511867,;	uc002ipy.2	c.48C>T	274/2602	1	1			c.48C>T						17	SNP	c.(46-48)ATC>ATT	56	56				0	Broad	distal-less homeobox 3			48072315		0.642	ENSG00000064195	4493	g.chr17:48072315G>A		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							114.164141	KEEP	16	24	-1	24	26	16	24	-1	114.296119	24	26	0.45679	1	0	0	0	0	0	0	1	0	--	--		0	A				118	GBM-12-0616-TP	p.I16I	G	GGGAGCTGGAGATGTCGGTGA	NM_005220	NP_005211	48072315	O60479	DLX3_HUMAN	0			1	274	-	A	A			Silent	16						
DLX6	0	broad.mit.edu	GRCh37	7	96637111	96637111	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000518156.2:c.598C>G	p.Leu200Val	p.L200V	ENST00000518156		200	Ctg/Gtg	0			1			G	L/V	uc003uom.2	protein_coding	YES	CCDS47647.2			598/882									ovary(2)	2	c.(514-516)CTG>GTG			Gene3D:1.10.10.60,Pfam_domain:PF00046,Prints_domain:PR00024,Prints_domain:PR00031,PROSITE_patterns:PS00027,PROSITE_profiles:PS50071,hmmpanther:PTHR24327,hmmpanther:PTHR24327:SF26,SMART_domains:SM00389,Superfamily_domains:SSF46689	distal-less homeobox 6				ENSP00000428480		3-Feb									COSM3412522,COSM3412521	3-Feb	.		ENST00000518156	Transcript			nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000006377	g.chr7:96637111C>G	2919			MODERATE		2.56	medium	getma.org/?cm=msa&ty=f&p=DLX6_HUMAN&rb=50&re=106&var=L82V	getma.org/pdb.php?prot=DLX6_HUMAN&from=50&to=106&var=L82V	getma.org/?cm=var&var=hg19,7,96637111,C,G&fts=all	L82V	--	--	1																																		DLX6AS_uc003uol.2_Intron|DLX6AS_uc010lfo.1_Intron	1,1	1		probably_damaging(0.998)	p.L172V	NM_005222	NP_005213		deleterious(0)	1,1	DLX6_HUMAN	DLX6	HGNC	P56179	DLX6_HUMAN					3	514	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		UPI0000EE57E0	82			Homeobox.		SNV	DLX6,missense_variant,p.Leu200Val,ENST00000518156,;DLX6,missense_variant,p.Leu172Val,ENST00000007660,NM_005222.3;DLX6,missense_variant,p.Leu72Val,ENST00000555308,;DLX6-AS1,intron_variant,,ENST00000430027,;DLX6-AS1,intron_variant,,ENST00000605417,;DLX6-AS1,intron_variant,,ENST00000437331,;DLX6-AS1,intron_variant,,ENST00000452769,;DLX6-AS1,intron_variant,,ENST00000458352,;DLX6-AS1,intron_variant,,ENST00000430404,;DLX6-AS1,intron_variant,,ENST00000437541,;DLX6-AS1,upstream_gene_variant,,ENST00000431497,;DLX6-AS2,upstream_gene_variant,,ENST00000606174,;DLX6,non_coding_transcript_exon_variant,,ENST00000493273,;	uc003uom.2	c.514C>G	1028/2304	3	3			c.514C>G						7	SNP	c.(514-516)CTG>GTG	57	57			ovary(2)	2	Broad	distal-less homeobox 6			96637111		0.532	ENSG00000006377	4496	g.chr7:96637111C>G	nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							-2.484399	KEEP	0	3	-1	20	26	0	3	-1	6.384195	20	26	0.04878	1	0	0	0	0	1	0	0	0	--	--		0	G			DLX6AS_uc003uol.2_Intron|DLX6AS_uc010lfo.1_Intron	246	GBM-32-4211-TP	p.L172V	C	GAGAGCCGAACTGGCAGCTTC	NM_005222	NP_005213	96637111	P56179	DLX6_HUMAN	0			3	514	+	G	G	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		Missense_Mutation	82			Homeobox.			
DMBT1	1755	broad.mit.edu	GRCh37	10	124399762	124399762	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368909.3:c.6762C>T	p.Asp2254=	p.D2254=	ENST00000368909	NM_007329.2	2254	gaC/gaT	0			1			T	D	uc001lgk.1	protein_coding					6762/7242									central_nervous_system(7)	7	c.(6760-6762)GAC>GAT			SMART_domains:SM00241,Pfam_domain:PF00100,PROSITE_profiles:PS51034	deleted in malignant brain tumors 1 isoform b				ENSP00000342210		52/53	2.48E-05				0.000151	1.50E-05		6.06E-05	rs749231034,COSM3396967,COSM3396965,COSM3396966	52/53	.		ENST00000338354	Transcript	1		epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	ENSG00000187908	g.chr10:124399762C>T	2926			LOW								--	--	1																																		DMBT1_uc001lgl.1_Silent_p.D2244D|DMBT1_uc001lgm.1_Silent_p.D1626D|DMBT1_uc009xzz.1_Silent_p.D2253D|DMBT1_uc010qtx.1_Silent_p.D974D|DMBT1_uc009yab.1_Silent_p.D957D|DMBT1_uc009yac.1_Silent_p.D548D	0,1,1,1				p.D2254D	NM_007329	NP_015568			0,1,1,1	DMBT1_HUMAN	DMBT1	HGNC	Q9UGM3	DMBT1_HUMAN			B6V682_HUMAN		52	6868	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	UPI000047021C	2254			ZP.		SNV	DMBT1,synonymous_variant,p.=,ENST00000368909,NM_007329.2;DMBT1,synonymous_variant,p.=,ENST00000338354,;DMBT1,synonymous_variant,p.=,ENST00000344338,;DMBT1,synonymous_variant,p.=,ENST00000368955,NM_017579.2;DMBT1,synonymous_variant,p.=,ENST00000330163,;DMBT1,synonymous_variant,p.=,ENST00000368956,NM_004406.2;DMBT1,synonymous_variant,p.=,ENST00000359586,;	uc001lgk.1	c.6762C>T	6868/7686	2	2			c.6762C>T						10	SNP	c.(6760-6762)GAC>GAT	30	30			central_nervous_system(7)	7	Broad	deleted in malignant brain tumors 1 isoform b			124399762		0.463	ENSG00000187908	4498	g.chr10:124399762C>T	epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	Ovarian(182;93 2026 18125 22222 38972)			Ovarian(182;93 2026 18125 22222 38972)			69.881572	KEEP	11	17	-1	28	51	11	17	-1	74.329377	28	51	0.27551	1	0	0	0	0	0	0	1	0	--	--		0	T			DMBT1_uc001lgl.1_Silent_p.D2244D|DMBT1_uc001lgm.1_Silent_p.D1626D|DMBT1_uc009xzz.1_Silent_p.D2253D|DMBT1_uc010qtx.1_Silent_p.D974D|DMBT1_uc009yab.1_Silent_p.D957D|DMBT1_uc009yac.1_Silent_p.D548D	65	GBM-06-0743-TP	p.D2254D	C	GCAATTTTGACGTGAACATTT	NM_007329	NP_015568	124399762	Q9UGM3	DMBT1_HUMAN	0			52	6868	+	T	T		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	Silent	2254			ZP.			
DMBT1	0	broad.mit.edu	GRCh37	10	124390740	124390740	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338354.3:c.5902C>T	p.Arg1968Ter	p.R1968*	ENST00000338354		1968	Cga/Tga	0			1			T	R/*	uc001lgk.1	protein_coding					5902/7242									central_nervous_system(7)	7	c.(5902-5904)CGA>TGA			Superfamily_domains:SSF56487,SMART_domains:SM00202,Pfam_domain:PF00530,Gene3D:3.10.250.10,PROSITE_profiles:PS50287	deleted in malignant brain tumors 1 isoform b				ENSP00000342210		46/53									COSM3396964,COSM3396962,COSM3396963	46/53	.		ENST00000338354	Transcript	1		epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	ENSG00000187908	g.chr10:124390740C>T	2926			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,10,124390740,C,T&fts=all	R1968*	--	--	1																																		DMBT1_uc001lgl.1_Nonsense_Mutation_p.R1958*|DMBT1_uc001lgm.1_Nonsense_Mutation_p.R1340*|DMBT1_uc009xzz.1_Nonsense_Mutation_p.R1968*|DMBT1_uc010qtx.1_Nonsense_Mutation_p.R688*|DMBT1_uc009yab.1_Nonsense_Mutation_p.R671*|DMBT1_uc009yac.1_Nonsense_Mutation_p.R262*	1,1,1				p.R1968*	NM_007329	NP_015568			1,1,1	DMBT1_HUMAN	DMBT1	HGNC	Q9UGM3	DMBT1_HUMAN			B6V682_HUMAN		46	6008	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	UPI000047021C	1968			SRCR 14.		SNV	DMBT1,stop_gained,p.Arg1968Ter,ENST00000368909,NM_007329.2;DMBT1,stop_gained,p.Arg1968Ter,ENST00000338354,;DMBT1,stop_gained,p.Arg1958Ter,ENST00000344338,;DMBT1,stop_gained,p.Arg1958Ter,ENST00000368955,NM_017579.2;DMBT1,stop_gained,p.Arg1340Ter,ENST00000368956,NM_004406.2;DMBT1,stop_gained,p.Arg1340Ter,ENST00000330163,;DMBT1,stop_gained,p.Arg688Ter,ENST00000359586,;	uc001lgk.1	c.5902C>T	6008/7686	5	2			c.5902C>T						10	SNP	c.(5902-5904)CGA>TGA	43	43			central_nervous_system(7)	7	Broad	deleted in malignant brain tumors 1 isoform b			124390740		0.542	ENSG00000187908	4498	g.chr10:124390740C>T	epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	Ovarian(182;93 2026 18125 22222 38972)			Ovarian(182;93 2026 18125 22222 38972)			89.119382	KEEP	16	18	-1	30	47	16	18	-1	91.71764	30	47	0.322581	1	0	0	0	0	0	1	0	0	--	--		0	T			DMBT1_uc001lgl.1_Nonsense_Mutation_p.R1958*|DMBT1_uc001lgm.1_Nonsense_Mutation_p.R1340*|DMBT1_uc009xzz.1_Nonsense_Mutation_p.R1968*|DMBT1_uc010qtx.1_Nonsense_Mutation_p.R688*|DMBT1_uc009yab.1_Nonsense_Mutation_p.R671*|DMBT1_uc009yac.1_Nonsense_Mutation_p.R262*	160	GBM-19-1790-TP	p.R1968*	C	GTGCCGGAACCGAGGCTGGTT	NM_007329	NP_015568	124390740	Q9UGM3	DMBT1_HUMAN	0			46	6008	+	T	T		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	Nonsense_Mutation	1968			SRCR 14.			
DMBT1	0	broad.mit.edu	GRCh37	10	124376759	124376759	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-26-6173-01	TCGA-26-6173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338354.3:c.4487C>G	p.Ser1496Cys	p.S1496C	ENST00000338354		1496	tCt/tGt	0			1			G	S/C	uc001lgk.1	protein_coding					4487/7242									central_nervous_system(7)	7	c.(4486-4488)TCT>TGT				deleted in malignant brain tumors 1 isoform b				ENSP00000342210		37/53	4.14E-05					7.49E-05			rs756284043,COSM3396961,COSM3396959,COSM3396960	37/53	.		ENST00000338354	Transcript	1		epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	ENSG00000187908	g.chr10:124376759C>G	2926			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=DMBT1_HUMAN&rb=1481&re=1511&var=S1496C	NA	getma.org/?cm=var&var=hg19,10,124376759,C,G&fts=all	S1496C	--	--	1																																		DMBT1_uc001lgl.1_Missense_Mutation_p.S1486C|DMBT1_uc001lgm.1_Missense_Mutation_p.S868C|DMBT1_uc009xzz.1_Missense_Mutation_p.S1496C|DMBT1_uc010qtx.1_Missense_Mutation_p.S347C|DMBT1_uc009yab.1_Missense_Mutation_p.S199C	0,1,1,1			probably_damaging(0.94)	p.S1496C	NM_007329	NP_015568		deleterious(0.04)	0,1,1,1	DMBT1_HUMAN	DMBT1	HGNC	Q9UGM3	DMBT1_HUMAN			B6V682_HUMAN		37	4593	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	UPI000047021C	1496					SNV	DMBT1,missense_variant,p.Ser1496Cys,ENST00000338354,;DMBT1,missense_variant,p.Ser1496Cys,ENST00000368909,NM_007329.2;DMBT1,missense_variant,p.Ser1486Cys,ENST00000368955,NM_017579.2;DMBT1,missense_variant,p.Ser1486Cys,ENST00000344338,;DMBT1,missense_variant,p.Ser868Cys,ENST00000368956,NM_004406.2;DMBT1,missense_variant,p.Ser868Cys,ENST00000330163,;DMBT1,missense_variant,p.Ser347Cys,ENST00000359586,;	uc001lgk.1	c.4487C>G	4593/7686	3	3			c.4487C>G						10	SNP	c.(4486-4488)TCT>TGT	3	3			central_nervous_system(7)	7	Broad	deleted in malignant brain tumors 1 isoform b			124376759		0.448	ENSG00000187908	4498	g.chr10:124376759C>G	epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	Ovarian(182;93 2026 18125 22222 38972)			Ovarian(182;93 2026 18125 22222 38972)			154.745337	KEEP	30	32	-1	111	126	30	32	-1	173.323383	111	126	0.216	1	0	0	0	0	1	0	0	0	--	--		0	G			DMBT1_uc001lgl.1_Missense_Mutation_p.S1486C|DMBT1_uc001lgm.1_Missense_Mutation_p.S868C|DMBT1_uc009xzz.1_Missense_Mutation_p.S1496C|DMBT1_uc010qtx.1_Missense_Mutation_p.S347C|DMBT1_uc009yab.1_Missense_Mutation_p.S199C	187	GBM-26-6173-TP	p.S1496C	C	TGGCCAACCTCTCGTGCATCA	NM_007329	NP_015568	124376759	Q9UGM3	DMBT1_HUMAN	0			37	4593	+	G	G		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	Missense_Mutation	1496						
DMBT1	0	broad.mit.edu	GRCh37	10	124345651	124345651	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01	TCGA-28-5209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338354.3:c.1535G>A	p.Arg512Gln	p.R512Q	ENST00000338354		512	cGa/cAa	0	A:0.0002		1			A	R/Q	uc001lgk.1	protein_coding					1535/7242									central_nervous_system(7)	7	c.(1534-1536)CGA>CAA			Superfamily_domains:SSF56487,SMART_domains:SM00202,Pfam_domain:PF00530,Gene3D:3.10.250.10,PROSITE_patterns:PS00420,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF250,PROSITE_profiles:PS50287	deleted in malignant brain tumors 1 isoform b			A:0.0002	ENSP00000342210		16/53	0.000125	0.000307				0.000167		6.32E-05	rs374635240,COSM3396953,COSM3396951,COSM3396952	16/53	.		ENST00000338354	Transcript	1		epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	ENSG00000187908	g.chr10:124345651G>A	2926			MODERATE		-0.705	neutral	getma.org/?cm=msa&ty=f&p=DMBT1_HUMAN&rb=497&re=594&var=R512Q	getma.org/pdb.php?prot=DMBT1_HUMAN&from=497&to=594&var=R512Q	getma.org/?cm=var&var=hg19,10,124345651,G,A&fts=all	R512Q	--	--	1																																		DMBT1_uc001lgl.1_Missense_Mutation_p.R502Q|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.R512Q|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	0,1,1,1			unknown(0)	p.R512Q	NM_007329	NP_015568		tolerated(1)	0,1,1,1	DMBT1_HUMAN	DMBT1	HGNC	Q9UGM3	DMBT1_HUMAN			B6V682_HUMAN		16	1641	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	UPI000047021C	512			SRCR 4.		SNV	DMBT1,missense_variant,p.Arg512Gln,ENST00000368909,NM_007329.2;DMBT1,missense_variant,p.Arg512Gln,ENST00000338354,;DMBT1,missense_variant,p.Arg502Gln,ENST00000344338,;DMBT1,missense_variant,p.Arg502Gln,ENST00000368955,NM_017579.2;DMBT1,intron_variant,,ENST00000330163,;DMBT1,intron_variant,,ENST00000368956,NM_004406.2;DMBT1,intron_variant,,ENST00000359586,;	uc001lgk.1	c.1535G>A	1641/7686	2	2			c.1535G>A						10	SNP	c.(1534-1536)CGA>CAA	21	21			central_nervous_system(7)	7	Broad	deleted in malignant brain tumors 1 isoform b			124345651		0.592	ENSG00000187908	4498	g.chr10:124345651G>A	epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	Ovarian(182;93 2026 18125 22222 38972)			Ovarian(182;93 2026 18125 22222 38972)			-94.355512	KEEP	7	6	-1	227	246	7	6	-1	14.594793	227	246	0.021176	1	0	0	0	0	1	0	0	0	--	--		0	A			DMBT1_uc001lgl.1_Missense_Mutation_p.R502Q|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.R512Q|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	218	GBM-28-5209-TP	p.R512Q	G	GTCCTATACCGAGGCTCCTGG	NM_007329	NP_015568	124345651	Q9UGM3	DMBT1_HUMAN	0			16	1641	+	A	A		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	Missense_Mutation	512			SRCR 4.			
DMBT1	1755		GRCh37	10	124395540	124395540	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000368909.3:c.6195A>G	p.Glu2065=	p.E2065=	ENST00000368909	NM_007329.2	2065	gaA/gaG	0																																																																																																																																																																																																																																												
DMBX1	127343	broad.mit.edu	GRCh37	1	46976764	46976764	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5418-01	TCGA-06-5418-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360032.3:c.491G>A	p.Arg164His	p.R164H	ENST00000360032	NM_172225.1	164	cGt/cAt	0			1			A	R/H	uc001cpx.2	protein_coding					506/1149									ovary(1)	1	c.(505-507)CGT>CAT			hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF308	diencephalon/mesencephalon homeobox 1 isoform b				ENSP00000361024		4-Mar									COSM910332	4-Mar	.		ENST00000371956	Transcript			brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000197587	g.chr1:46976764G>A	19026			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=DMBX1_HUMAN&rb=129&re=182&var=R169H	NA	getma.org/?cm=var&var=hg19,1,46976764,G,A&fts=all	R169H	--	--	1																																		DMBX1_uc001cpw.2_Missense_Mutation_p.R164H	1			benign(0.001)	p.R169H	NM_147192	NP_671725		tolerated(0.17)	1	DMBX1_HUMAN	DMBX1	HGNC	Q8NFW5	DMBX1_HUMAN					3	521	+	Acute lymphoblastic leukemia(166;0.155)		UPI0000073295	169					SNV	DMBX1,missense_variant,p.Arg169His,ENST00000371956,NM_147192.2;DMBX1,missense_variant,p.Arg164His,ENST00000360032,NM_172225.1;	uc001cpx.2	c.506G>A	521/2882	2	2			c.506G>A						1	SNP	c.(505-507)CGT>CAT	34	34			ovary(1)	1	Broad	diencephalon/mesencephalon homeobox 1 isoform b			46976764		0.652	ENSG00000197587	4499	g.chr1:46976764G>A	brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							195.657454	KEEP	41	44	-1	50	78	41	44	-1	196.929501	50	78	0.409091	1	0	0	0	0	1	0	0	0	--	--		0	A			DMBX1_uc001cpw.2_Missense_Mutation_p.R164H	100	GBM-06-5418-TP	p.R169H	G	CAGCCCCCACGTCTGCCTGGC	NM_147192	NP_671725	46976764	Q8NFW5	DMBX1_HUMAN	0			3	521	+	A	A	Acute lymphoblastic leukemia(166;0.155)		Missense_Mutation	169						
DMD	1756	broad.mit.edu	GRCh37	X	31986588	31986588	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357033.4:c.6482C>T	p.Thr2161Ile	p.T2161I	ENST00000357033	NM_004007.2	2161	aCa/aTa	0			1			A	T/I	uc004dda.1	protein_coding	YES	CCDS14233.1			6482/11058									ovary(3)|pancreas(2)|large_intestine(1)	6	c.(6481-6483)ACA>ATA			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966,Superfamily_domains:SSF46966	dystrophin Dp427m isoform				ENSP00000354923		45/79									COSM2149770,COSM2149771,COSM2149773,COSM2149772	45/79	.		ENST00000357033	Transcript	1		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	ENSG00000198947	g.chrX:31986588G>A	2928			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=DMD_HUMAN&rb=2104&re=2208&var=T2161I	NA	getma.org/?cm=var&var=hg19,X,31986588,G,A&fts=all	T2161I	--	--	1																																		DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.T817I|DMD_uc004dcx.2_Missense_Mutation_p.T820I|DMD_uc004dcz.2_Missense_Mutation_p.T2038I|DMD_uc004dcy.1_Missense_Mutation_p.T2157I|DMD_uc004ddb.1_Missense_Mutation_p.T2153I|DMD_uc010ngo.1_Missense_Mutation_p.T70I|DMD_uc010ngn.1_Intron	1,1,1,1	1		benign(0)	p.T2161I	NM_004006	NP_003997			1,1,1,1		DMD	HGNC	P11532	DMD_HUMAN			Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN		45	6726	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	UPI000049E111	2161			Spectrin 15.		SNV	DMD,missense_variant,p.Thr2161Ile,ENST00000357033,NM_004007.2,NM_000109.3,NM_004006.2,NM_004014.2,NM_004012.3,NM_004011.3;DMD,missense_variant,p.Thr2157Ile,ENST00000378677,NM_004009.3,NM_004010.3,NM_004014.2,NM_004012.3,NM_004011.3;DMD,5_prime_UTR_variant,,ENST00000378707,NM_004013.2,NM_004014.2;DMD,5_prime_UTR_variant,,ENST00000359836,NM_004022.2;DMD,5_prime_UTR_variant,,ENST00000541735,NM_004020.3;DMD,5_prime_UTR_variant,,ENST00000343523,NM_004023.2;DMD,5_prime_UTR_variant,,ENST00000474231,NM_004021.2;DMD,non_coding_transcript_exon_variant,,ENST00000488902,;	uc004dda.1	c.6482C>T	6689/13956	1	1			c.6482C>T						23	SNP	c.(6481-6483)ACA>ATA	52	52			ovary(3)|pancreas(2)|large_intestine(1)	6	Broad	dystrophin Dp427m isoform			31986588		0.428	ENSG00000198947	4501	g.chrX:31986588G>A	muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding							185.701135	KEEP	43	29	-1	49	27	43	29	-1	185.862194	49	27	0.463235	1	0	0	0	0	1	0	0	0	--	--		0	A			DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.T817I|DMD_uc004dcx.2_Missense_Mutation_p.T820I|DMD_uc004dcz.2_Missense_Mutation_p.T2038I|DMD_uc004dcy.1_Missense_Mutation_p.T2157I|DMD_uc004ddb.1_Missense_Mutation_p.T2153I|DMD_uc010ngo.1_Missense_Mutation_p.T70I|DMD_uc010ngn.1_Intron	23	GBM-06-0145-TP	p.T2161I	G	TGCATTCAATGTTCTGACAAC	NM_004006	NP_003997	31986588	P11532	DMD_HUMAN	0			45	6726	-	A	A		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	Missense_Mutation	2161			Spectrin 15.			
DMD	1756	broad.mit.edu	GRCh37	X	32663088	32663088	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0750-01	TCGA-06-0750-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357033.4:c.1142C>G	p.Thr381Ser	p.T381S	ENST00000357033	NM_004007.2	381	aCt/aGt	0			1			C	T/S	uc004dda.1	protein_coding	YES	CCDS14233.1			1142/11058									ovary(3)|pancreas(2)|large_intestine(1)	6	c.(1141-1143)ACT>AGT			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966	dystrophin Dp427m isoform				ENSP00000354923		Oct-79									COSM3406319,COSM3406320,COSM3406321	Oct-79	.		ENST00000357033	Transcript	1		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	ENSG00000198947	g.chrX:32663088G>C	2928			MODERATE		1.965	medium	getma.org/?cm=msa&ty=f&p=DMD_HUMAN&rb=339&re=447&var=T381S	NA	getma.org/?cm=var&var=hg19,X,32663088,G,C&fts=all	T381S	--	--	1																																		DMD_uc004dcz.2_Missense_Mutation_p.T258S|DMD_uc004dcy.1_Missense_Mutation_p.T377S|DMD_uc004ddb.1_Missense_Mutation_p.T373S|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.T373S|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|DMD_uc010ngr.1_Missense_Mutation_p.T92S	1,1,1	1		benign(0.028)	p.T381S	NM_004006	NP_003997			1,1,1		DMD	HGNC	P11532	DMD_HUMAN			Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN		10	1386	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	UPI000049E111	381			Spectrin 1.		SNV	DMD,missense_variant,p.Thr381Ser,ENST00000357033,NM_004007.2,NM_000109.3,NM_004006.2,NM_004014.2,NM_004012.3,NM_004011.3;DMD,missense_variant,p.Thr377Ser,ENST00000378677,NM_004009.3,NM_004010.3,NM_004014.2,NM_004012.3,NM_004011.3;DMD,missense_variant,p.Thr373Ser,ENST00000288447,;DMD,intron_variant,,ENST00000447523,;DMD,intron_variant,,ENST00000420596,;DMD,intron_variant,,ENST00000448370,;MIR548F5,upstream_gene_variant,,ENST00000408421,;DMD,intron_variant,,ENST00000488902,;DMD,intron_variant,,ENST00000480751,;	uc004dda.1	c.1142C>G	1349/13956	3	3			c.1142C>G						23	SNP	c.(1141-1143)ACT>AGT	15	15			ovary(3)|pancreas(2)|large_intestine(1)	6	Broad	dystrophin Dp427m isoform			32663088		0.353	ENSG00000198947	4501	g.chrX:32663088G>C	muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding							15.021115	KEEP	9	0	-1	46	25	9	0	-1	24.914471	46	25	0.125	1	0	0	0	0	1	0	0	0	--	--		0	C			DMD_uc004dcz.2_Missense_Mutation_p.T258S|DMD_uc004dcy.1_Missense_Mutation_p.T377S|DMD_uc004ddb.1_Missense_Mutation_p.T373S|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.T373S|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|DMD_uc010ngr.1_Missense_Mutation_p.T92S	70	GBM-06-0750-TP	p.T381S	G	TACCTCATGAGTATGAAACTG	NM_004006	NP_003997	32663088	P11532	DMD_HUMAN	0			10	1386	-	C	C		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	Missense_Mutation	381			Spectrin 1.			
DMD	1756	broad.mit.edu	GRCh37	X	32490283	32490283	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-6389-01	TCGA-06-6389-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357033.4:c.2947C>G	p.Gln983Glu	p.Q983E	ENST00000357033	NM_004007.2	983	Cag/Gag	0			1			C	Q/E	uc004dda.1	protein_coding	YES	CCDS14233.1			2947/11058									ovary(3)|pancreas(2)|large_intestine(1)	6	c.(2947-2949)CAG>GAG			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,PIRSF_domain:PIRSF002341	dystrophin Dp427m isoform				ENSP00000354923		22/79										22/79	.		ENST00000357033	Transcript	1		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	ENSG00000198947	g.chrX:32490283G>C	2928			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=DMD_HUMAN&rb=942&re=1045&var=Q983E	NA	getma.org/?cm=var&var=hg19,X,32490283,G,C&fts=all	Q983E	--	--	1																																		DMD_uc004dcz.2_Missense_Mutation_p.Q860E|DMD_uc004dcy.1_Missense_Mutation_p.Q979E|DMD_uc004ddb.1_Missense_Mutation_p.Q975E|DMD_uc010ngo.1_Intron		1		possibly_damaging(0.458)	p.Q983E	NM_004006	NP_003997					DMD	HGNC	P11532	DMD_HUMAN			Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN		22	3191	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	UPI000049E111	983			Spectrin 6.		SNV	DMD,missense_variant,p.Gln983Glu,ENST00000357033,NM_004007.2,NM_000109.3,NM_004006.2,NM_004014.2,NM_004012.3,NM_004011.3;DMD,missense_variant,p.Gln979Glu,ENST00000378677,NM_004009.3,NM_004010.3,NM_004014.2,NM_004012.3,NM_004011.3;DMD,intron_variant,,ENST00000420596,;DMD,intron_variant,,ENST00000448370,;DMD,intron_variant,,ENST00000488902,;	uc004dda.1	c.2947C>G	3154/13956	4	4			c.2947C>G						23	SNP	c.(2947-2949)CAG>GAG	35	35			ovary(3)|pancreas(2)|large_intestine(1)	6	Broad	dystrophin Dp427m isoform			32490283		0.388	ENSG00000198947	4501	g.chrX:32490283G>C	muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding							-26.130722	KEEP	3	1	-1	84	80	3	1	-1	9.848576	84	80	0.027397	1	0	0	0	0	1	0	0	0	--	--		0	C			DMD_uc004dcz.2_Missense_Mutation_p.Q860E|DMD_uc004dcy.1_Missense_Mutation_p.Q979E|DMD_uc004ddb.1_Missense_Mutation_p.Q975E|DMD_uc010ngo.1_Intron	105	GBM-06-6389-TP	p.Q983E	G	TCACAGACCTGCAATTCCCCG	NM_004006	NP_003997	32490283	P11532	DMD_HUMAN	0			22	3191	-	C	C		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	Missense_Mutation	983			Spectrin 6.			
DMD	0	broad.mit.edu	GRCh37	X	31165414	31165414	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-12-3649-01	TCGA-12-3649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357033.4:c.10775G>C	p.Arg3592Thr	p.R3592T	ENST00000357033	NM_004007.2	3592	aGg/aCg	0			1			G	R/T	uc004dda.1	protein_coding	YES	CCDS14233.1			10775/11058									ovary(3)|pancreas(2)|large_intestine(1)	6	c.(10774-10776)AGG>ACG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,PIRSF_domain:PIRSF002341	dystrophin Dp427m isoform				ENSP00000354923		75/79									COSM3406286,COSM3406284,COSM3406285,COSM3406289,COSM3406288,COSM3406287	75/79	.		ENST00000357033	Transcript	1		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	ENSG00000198947	g.chrX:31165414C>G	2928			MODERATE		2.75	medium	getma.org/?cm=msa&ty=f&p=DMD_HUMAN&rb=3553&re=3685&var=R3592T	NA	getma.org/?cm=var&var=hg19,X,31165414,C,G&fts=all	R3592T	--	--	1																																		DMD_uc004dcq.1_Missense_Mutation_p.R863T|DMD_uc004dcr.1_Missense_Mutation_p.R1012T|DMD_uc004dcs.1_Missense_Mutation_p.R1022T|DMD_uc004dct.1_Missense_Mutation_p.R1132T|DMD_uc004dcu.1_Missense_Mutation_p.R1132T|DMD_uc004dcv.1_Missense_Mutation_p.R1119T|DMD_uc004dcw.2_Missense_Mutation_p.R2248T|DMD_uc004dcx.2_Missense_Mutation_p.R2251T|DMD_uc004dcz.2_Missense_Mutation_p.R3469T|DMD_uc004dcy.1_Missense_Mutation_p.R3588T|DMD_uc004ddb.1_Missense_Mutation_p.R3584T|DMD_uc004dcm.1_Missense_Mutation_p.R524T|DMD_uc004dcn.1_Missense_Mutation_p.R511T|DMD_uc004dco.1_Missense_Mutation_p.R524T|DMD_uc004dcp.1_Missense_Mutation_p.R511T|DMD_uc011mkb.1_Missense_Mutation_p.R414T	1,1,1,1,1,1	1		benign(0.402)	p.R3592T	NM_004006	NP_003997			1,1,1,1,1,1		DMD	HGNC	P11532	DMD_HUMAN			Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN		75	11019	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	UPI000049E111	3592					SNV	DMD,missense_variant,p.Arg3592Thr,ENST00000357033,NM_004007.2,NM_000109.3,NM_004006.2,NM_004014.2,NM_004012.3,NM_004011.3;DMD,missense_variant,p.Arg3588Thr,ENST00000378677,NM_004009.3,NM_004010.3,NM_004014.2,NM_004012.3,NM_004011.3;DMD,missense_variant,p.Arg1132Thr,ENST00000378707,NM_004013.2,NM_004014.2;DMD,missense_variant,p.Arg1119Thr,ENST00000359836,NM_004022.2;DMD,missense_variant,p.Arg1022Thr,ENST00000541735,NM_004020.3;DMD,missense_variant,p.Arg1022Thr,ENST00000343523,NM_004023.2;DMD,missense_variant,p.Arg1275Thr,ENST00000358062,;DMD,missense_variant,p.Arg1132Thr,ENST00000474231,NM_004021.2;DMD,missense_variant,p.Arg524Thr,ENST00000378723,NM_004016.2;DMD,missense_variant,p.Arg524Thr,ENST00000378702,NM_004015.2;DMD,missense_variant,p.Arg511Thr,ENST00000361471,NM_004017.2,NM_004018.2;DMD,missense_variant,p.Arg414Thr,ENST00000378680,;DMD,intron_variant,,ENST00000481143,;	uc004dda.1	c.10775G>C	10982/13956	3	3			c.10775G>C						23	SNP	c.(10774-10776)AGG>ACG	10	10			ovary(3)|pancreas(2)|large_intestine(1)	6	Broad	dystrophin Dp427m isoform			31165414		0.458	ENSG00000198947	4501	g.chrX:31165414C>G	muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding							254.251775	KEEP	51	31	-1	20	15	51	31	-1	257.747483	20	15	0.696078	1	0	0	0	0	1	0	0	0	--	--		0	G			DMD_uc004dcq.1_Missense_Mutation_p.R863T|DMD_uc004dcr.1_Missense_Mutation_p.R1012T|DMD_uc004dcs.1_Missense_Mutation_p.R1022T|DMD_uc004dct.1_Missense_Mutation_p.R1132T|DMD_uc004dcu.1_Missense_Mutation_p.R1132T|DMD_uc004dcv.1_Missense_Mutation_p.R1119T|DMD_uc004dcw.2_Missense_Mutation_p.R2248T|DMD_uc004dcx.2_Missense_Mutation_p.R2251T|DMD_uc004dcz.2_Missense_Mutation_p.R3469T|DMD_uc004dcy.1_Missense_Mutation_p.R3588T|DMD_uc004ddb.1_Missense_Mutation_p.R3584T|DMD_uc004dcm.1_Missense_Mutation_p.R524T|DMD_uc004dcn.1_Missense_Mutation_p.R511T|DMD_uc004dco.1_Missense_Mutation_p.R524T|DMD_uc004dcp.1_Missense_Mutation_p.R511T|DMD_uc011mkb.1_Missense_Mutation_p.R414T	125	GBM-12-3649-TP	p.R3592T	C	CTGCCTTAGCCTGTGTAACTG	NM_004006	NP_003997	31165414	P11532	DMD_HUMAN	0			75	11019	-	G	G		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	Missense_Mutation	3592						
DMD	0	broad.mit.edu	GRCh37	X	32503062	32503062	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01	TCGA-19-1790-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357033.4:c.2777A>G	p.Gln926Arg	p.Q926R	ENST00000357033	NM_004007.2	926	cAg/cGg	0			1			C	Q/R	uc004dda.1	protein_coding	YES	CCDS14233.1			2777/11058									ovary(3)|pancreas(2)|large_intestine(1)	6	c.(2776-2778)CAG>CGG			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,Pfam_domain:PF00435,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966	dystrophin Dp427m isoform				ENSP00000354923		21/79									COSM3406313,COSM3406314,COSM3406315	21/79	.		ENST00000357033	Transcript	1		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	ENSG00000198947	g.chrX:32503062T>C	2928			MODERATE		-0.255	neutral	getma.org/?cm=msa&ty=f&p=DMD_HUMAN&rb=830&re=934&var=Q926R	NA	getma.org/?cm=var&var=hg19,X,32503062,T,C&fts=all	Q926R	--	--	1																																		DMD_uc004dcz.2_Missense_Mutation_p.Q803R|DMD_uc004dcy.1_Missense_Mutation_p.Q922R|DMD_uc004ddb.1_Missense_Mutation_p.Q918R|DMD_uc010ngo.1_Intron	1,1,1	1		possibly_damaging(0.659)	p.Q926R	NM_004006	NP_003997			1,1,1		DMD	HGNC	P11532	DMD_HUMAN			Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN		21	3021	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	UPI000049E111	926			Spectrin 5.		SNV	DMD,missense_variant,p.Gln926Arg,ENST00000357033,NM_004007.2,NM_000109.3,NM_004006.2,NM_004014.2,NM_004012.3,NM_004011.3;DMD,missense_variant,p.Gln922Arg,ENST00000378677,NM_004009.3,NM_004010.3,NM_004014.2,NM_004012.3,NM_004011.3;DMD,intron_variant,,ENST00000420596,;DMD,intron_variant,,ENST00000448370,;DMD,intron_variant,,ENST00000488902,;	uc004dda.1	c.2777A>G	2984/13956	3	3			c.2777A>G						23	SNP	c.(2776-2778)CAG>CGG	7	7			ovary(3)|pancreas(2)|large_intestine(1)	6	Broad	dystrophin Dp427m isoform			32503062		0.408	ENSG00000198947	4501	g.chrX:32503062T>C	muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding							0.526215	KEEP	0	2	-1	11	22	0	2	-1	6.363497	11	22	0.066667	1	0	0	0	0	1	0	0	0	--	--		0	C			DMD_uc004dcz.2_Missense_Mutation_p.Q803R|DMD_uc004dcy.1_Missense_Mutation_p.Q922R|DMD_uc004ddb.1_Missense_Mutation_p.Q918R|DMD_uc010ngo.1_Intron	160	GBM-19-1790-TP	p.Q926R	T	CTCTCTGGCCTGCACATCAGA	NM_004006	NP_003997	32503062	P11532	DMD_HUMAN	0			21	3021	-	C	C		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	Missense_Mutation	926			Spectrin 5.			
DMD	0	broad.mit.edu	GRCh37	X	32563337	32563337	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-2623-01	TCGA-19-2623-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357033.4:c.2107C>A	p.Leu703Ile	p.L703I	ENST00000357033	NM_004007.2	703	Ctt/Att	0			1			T	L/I	uc004dda.1	protein_coding	YES	CCDS14233.1			2107/11058									ovary(3)|pancreas(2)|large_intestine(1)	6	c.(2107-2109)CTT>ATT			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,PIRSF_domain:PIRSF002341	dystrophin Dp427m isoform				ENSP00000354923		17/79	8.24E-06					2.10E-05			rs745972280,COSM3406316,COSM3406317,COSM3406318	17/79	.		ENST00000357033	Transcript	1		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	ENSG00000198947	g.chrX:32563337G>T	2928			MODERATE		2.095	medium	getma.org/?cm=msa&ty=f&p=DMD_HUMAN&rb=557&re=720&var=L703I	NA	getma.org/?cm=var&var=hg19,X,32563337,G,T&fts=all	L703I	--	--	1																																		DMD_uc004dcz.2_Missense_Mutation_p.L580I|DMD_uc004dcy.1_Missense_Mutation_p.L699I|DMD_uc004ddb.1_Missense_Mutation_p.L695I|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.L695I	0,1,1,1	1		benign(0.047)	p.L703I	NM_004006	NP_003997			0,1,1,1		DMD	HGNC	P11532	DMD_HUMAN			Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN		17	2351	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	UPI000049E111	703					SNV	DMD,missense_variant,p.Leu703Ile,ENST00000357033,NM_004007.2,NM_000109.3,NM_004006.2,NM_004014.2,NM_004012.3,NM_004011.3;DMD,missense_variant,p.Leu699Ile,ENST00000378677,NM_004009.3,NM_004010.3,NM_004014.2,NM_004012.3,NM_004011.3;DMD,missense_variant,p.Leu695Ile,ENST00000288447,;DMD,intron_variant,,ENST00000420596,;DMD,intron_variant,,ENST00000448370,;DMD,intron_variant,,ENST00000488902,;	uc004dda.1	c.2107C>A	2314/13956	2	2			c.2107C>A						23	SNP	c.(2107-2109)CTT>ATT	18	18			ovary(3)|pancreas(2)|large_intestine(1)	6	Broad	dystrophin Dp427m isoform			32563337		0.448	ENSG00000198947	4501	g.chrX:32563337G>T	muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding							190.067377	KEEP	38	20	0.655172414	18	7	38	20	0.655172414	192.90558	18	7	0.7	1	0	0	0	0	1	0	0	0	--	--		0	T			DMD_uc004dcz.2_Missense_Mutation_p.L580I|DMD_uc004dcy.1_Missense_Mutation_p.L699I|DMD_uc004ddb.1_Missense_Mutation_p.L695I|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.L695I	163	GBM-19-2623-TP	p.L703I	G	GGTGGTGGAAGTTCCTCTTGA	NM_004006	NP_003997	32563337	P11532	DMD_HUMAN	0			17	2351	-	T	T		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	Missense_Mutation	703						
DMD	0	broad.mit.edu	GRCh37	X	32305784	32305784	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01	TCGA-19-2631-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357033.4:c.6152G>A	p.Arg2051Gln	p.R2051Q	ENST00000357033	NM_004007.2	2051	cGg/cAg	0			1			T	R/Q	uc004dda.1	protein_coding	YES	CCDS14233.1			6152/11058									ovary(3)|pancreas(2)|large_intestine(1)	6	c.(6151-6153)CGG>CAG			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966	dystrophin Dp427m isoform				ENSP00000354923		43/79	8.24E-06			0.00016					rs756696562,COSM2156415,COSM2156416,COSM2156418,COSM2156417	43/79	.		ENST00000357033	Transcript	1		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	ENSG00000198947	g.chrX:32305784C>T	2928			MODERATE		-0.935	neutral	getma.org/?cm=msa&ty=f&p=DMD_HUMAN&rb=1998&re=2100&var=R2051Q	NA	getma.org/?cm=var&var=hg19,X,32305784,C,T&fts=all	R2051Q	--	--	1																																		DMD_uc004dcw.2_Missense_Mutation_p.R707Q|DMD_uc004dcx.2_Missense_Mutation_p.R710Q|DMD_uc004dcz.2_Missense_Mutation_p.R1928Q|DMD_uc004dcy.1_Missense_Mutation_p.R2047Q|DMD_uc004ddb.1_Missense_Mutation_p.R2043Q|DMD_uc010ngo.1_Intron|DMD_uc010ngn.1_RNA	0,1,1,1,1	1		benign(0.417)	p.R2051Q	NM_004006	NP_003997			0,1,1,1,1		DMD	HGNC	P11532	DMD_HUMAN			Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN		43	6396	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	UPI000049E111	2051			Spectrin 14.		SNV	DMD,missense_variant,p.Arg2051Gln,ENST00000357033,NM_004007.2,NM_000109.3,NM_004006.2,NM_004014.2,NM_004012.3,NM_004011.3;DMD,missense_variant,p.Arg2047Gln,ENST00000378677,NM_004009.3,NM_004010.3,NM_004014.2,NM_004012.3,NM_004011.3;DMD,intron_variant,,ENST00000488902,;	uc004dda.1	c.6152G>A	6359/13956	2	2			c.6152G>A						23	SNP	c.(6151-6153)CGG>CAG	35	35			ovary(3)|pancreas(2)|large_intestine(1)	6	Broad	dystrophin Dp427m isoform			32305784		0.348	ENSG00000198947	4501	g.chrX:32305784C>T	muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding							114.388077	KEEP	18	22	-1	40	48	18	22	-1	117.646794	40	48	0.325	1	0	0	0	0	1	0	0	0	--	--		0	T			DMD_uc004dcw.2_Missense_Mutation_p.R707Q|DMD_uc004dcx.2_Missense_Mutation_p.R710Q|DMD_uc004dcz.2_Missense_Mutation_p.R1928Q|DMD_uc004dcy.1_Missense_Mutation_p.R2047Q|DMD_uc004ddb.1_Missense_Mutation_p.R2043Q|DMD_uc010ngo.1_Intron|DMD_uc010ngn.1_RNA	167	GBM-19-2631-TP	p.R2051Q	C	AATGTCAATCCGACCTGAGCT	NM_004006	NP_003997	32305784	P11532	DMD_HUMAN	0			43	6396	-	T	T		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	Missense_Mutation	2051			Spectrin 14.			
DMD	0	broad.mit.edu	GRCh37	X	32407637	32407637	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5950-01	TCGA-19-5950-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357033.4:c.4499C>T	p.Ser1500Leu	p.S1500L	ENST00000357033	NM_004007.2	1500	tCa/tTa	0			1			A	S/L	uc004dda.1	protein_coding	YES	CCDS14233.1			4499/11058									ovary(3)|pancreas(2)|large_intestine(1)	6	c.(4498-4500)TCA>TTA			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,Gene3D:1.20.58.60,SMART_domains:SM00150,PIRSF_domain:PIRSF002341	dystrophin Dp427m isoform				ENSP00000354923		32/79									COSM2156570,COSM2156571,COSM2156573,COSM2156572	32/79	.		ENST00000357033	Transcript	1		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	ENSG00000198947	g.chrX:32407637G>A	2928			MODERATE		1.32	low	getma.org/?cm=msa&ty=f&p=DMD_HUMAN&rb=1464&re=1570&var=S1500L	NA	getma.org/?cm=var&var=hg19,X,32407637,G,A&fts=all	S1500L	--	--	1																																		DMD_uc004dcw.2_Missense_Mutation_p.S156L|DMD_uc004dcx.2_Missense_Mutation_p.S159L|DMD_uc004dcz.2_Missense_Mutation_p.S1377L|DMD_uc004dcy.1_Missense_Mutation_p.S1496L|DMD_uc004ddb.1_Missense_Mutation_p.S1492L|DMD_uc010ngo.1_Intron	1,1,1,1	1		possibly_damaging(0.838)	p.S1500L	NM_004006	NP_003997			1,1,1,1		DMD	HGNC	P11532	DMD_HUMAN			Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN		32	4743	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	UPI000049E111	1500			Spectrin 10.|Interaction with SYNM (By similarity).		SNV	DMD,missense_variant,p.Ser1500Leu,ENST00000357033,NM_004007.2,NM_000109.3,NM_004006.2,NM_004014.2,NM_004012.3,NM_004011.3;DMD,missense_variant,p.Ser1496Leu,ENST00000378677,NM_004009.3,NM_004010.3,NM_004014.2,NM_004012.3,NM_004011.3;DMD,intron_variant,,ENST00000420596,;DMD,intron_variant,,ENST00000448370,;DMD,intron_variant,,ENST00000488902,;	uc004dda.1	c.4499C>T	4706/13956	2	2			c.4499C>T						23	SNP	c.(4498-4500)TCA>TTA	25	25			ovary(3)|pancreas(2)|large_intestine(1)	6	Broad	dystrophin Dp427m isoform			32407637		0.393	ENSG00000198947	4501	g.chrX:32407637G>A	muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding							172.149329	KEEP	34	30	-1	43	40	34	30	-1	172.530541	43	40	0.44186	1	0	0	0	0	1	0	0	0	--	--		0	A			DMD_uc004dcw.2_Missense_Mutation_p.S156L|DMD_uc004dcx.2_Missense_Mutation_p.S159L|DMD_uc004dcz.2_Missense_Mutation_p.S1377L|DMD_uc004dcy.1_Missense_Mutation_p.S1496L|DMD_uc004ddb.1_Missense_Mutation_p.S1492L|DMD_uc010ngo.1_Intron	170	GBM-19-5950-TP	p.S1500L	G	ATTTAGCTGTGACTGTACTAC	NM_004006	NP_003997	32407637	P11532	DMD_HUMAN	0			32	4743	-	A	A		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	Missense_Mutation	1500			Spectrin 10.|Interaction with SYNM (By similarity).			
DMD	0	broad.mit.edu	GRCh37	X	32404521	32404521	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01	TCGA-28-2513-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357033.4:c.4580G>A	p.Arg1527His	p.R1527H	ENST00000357033	NM_004007.2	1527	cGt/cAt	0			1			T	R/H	uc004dda.1	protein_coding	YES	CCDS14233.1			4580/11058									ovary(3)|pancreas(2)|large_intestine(1)	6	c.(4579-4581)CGT>CAT			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,Gene3D:1.20.58.60,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966	dystrophin Dp427m isoform				ENSP00000354923		33/79									COSM3406302,COSM3406303,COSM3406305,COSM3406304	33/79	.		ENST00000357033	Transcript	1		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	ENSG00000198947	g.chrX:32404521C>T	2928			MODERATE		2.6	medium	getma.org/?cm=msa&ty=f&p=DMD_HUMAN&rb=1464&re=1570&var=R1527H	NA	getma.org/?cm=var&var=hg19,X,32404521,C,T&fts=all	R1527H	--	--	1																																		DMD_uc004dcw.2_Missense_Mutation_p.R183H|DMD_uc004dcx.2_Missense_Mutation_p.R186H|DMD_uc004dcz.2_Missense_Mutation_p.R1404H|DMD_uc004dcy.1_Missense_Mutation_p.R1523H|DMD_uc004ddb.1_Missense_Mutation_p.R1519H|DMD_uc010ngo.1_Intron	1,1,1,1	1		probably_damaging(0.928)	p.R1527H	NM_004006	NP_003997			1,1,1,1		DMD	HGNC	P11532	DMD_HUMAN			Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN		33	4824	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	UPI000049E111	1527			Spectrin 10.|Interaction with SYNM (By similarity).		SNV	DMD,missense_variant,p.Arg1527His,ENST00000357033,NM_004007.2,NM_000109.3,NM_004006.2,NM_004014.2,NM_004012.3,NM_004011.3;DMD,missense_variant,p.Arg1523His,ENST00000378677,NM_004009.3,NM_004010.3,NM_004014.2,NM_004012.3,NM_004011.3;DMD,intron_variant,,ENST00000420596,;DMD,intron_variant,,ENST00000448370,;DMD,intron_variant,,ENST00000488902,;	uc004dda.1	c.4580G>A	4787/13956	1	1			c.4580G>A						23	SNP	c.(4579-4581)CGT>CAT	15	15			ovary(3)|pancreas(2)|large_intestine(1)	6	Broad	dystrophin Dp427m isoform			32404521		0.353	ENSG00000198947	4501	g.chrX:32404521C>T	muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding							14.814494	KEEP	13	12	-1	121	113	13	12	-1	55.48608	121	113	0.096386	1	0	0	0	0	1	0	0	0	--	--		0	T			DMD_uc004dcw.2_Missense_Mutation_p.R183H|DMD_uc004dcx.2_Missense_Mutation_p.R186H|DMD_uc004dcz.2_Missense_Mutation_p.R1404H|DMD_uc004dcy.1_Missense_Mutation_p.R1523H|DMD_uc004ddb.1_Missense_Mutation_p.R1519H|DMD_uc010ngo.1_Intron	213	GBM-28-2513-TP	p.R1527H	C	TACAATCTGACGTCCAGTCTT	NM_004006	NP_003997	32404521	P11532	DMD_HUMAN	0			33	4824	-	T	T		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	Missense_Mutation	1527			Spectrin 10.|Interaction with SYNM (By similarity).			
DMD	0	broad.mit.edu	GRCh37	X	32486813	32486813	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-32-2632-01	TCGA-32-2632-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357033.4:c.2964T>C	p.Ser988=	p.S988=	ENST00000357033	NM_004007.2	988	tcT/tcC	0			1			G	S	uc004dda.1	protein_coding	YES	CCDS14233.1			2964/11058									ovary(3)|pancreas(2)|large_intestine(1)	6	c.(2962-2964)TCT>TCC			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,PIRSF_domain:PIRSF002341	dystrophin Dp427m isoform				ENSP00000354923		23/79									COSM3406310,COSM3406311,COSM3406312	23/79	.		ENST00000357033	Transcript	1		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	ENSG00000198947	g.chrX:32486813A>G	2928			LOW								--	--	1																																		DMD_uc004dcz.2_Silent_p.S865S|DMD_uc004dcy.1_Silent_p.S984S|DMD_uc004ddb.1_Silent_p.S980S|DMD_uc010ngo.1_Intron	1,1,1	1			p.S988S	NM_004006	NP_003997			1,1,1		DMD	HGNC	P11532	DMD_HUMAN			Q9UPB5_HUMAN,Q9UPB4_HUMAN,Q9UMK8_HUMAN,Q9UMK7_HUMAN,Q9UMG1_HUMAN,Q9UME2_HUMAN,Q9UEH4_HUMAN,Q8WYF6_HUMAN,Q8WYF5_HUMAN,Q8WYF4_HUMAN,Q8WYF3_HUMAN,Q8WYF2_HUMAN,Q8WYF1_HUMAN,Q8WYF0_HUMAN,Q8WYE9_HUMAN,Q8WYE8_HUMAN,Q8WYE7_HUMAN,Q8WYE6_HUMAN,Q8WYE5_HUMAN,Q8WYE4_HUMAN,Q8WYE3_HUMAN,Q8WYE2_HUMAN,Q8WYE1_HUMAN,Q8WYD9_HUMAN,Q8WYD8_HUMAN,Q8WYD7_HUMAN,Q8WYD6_HUMAN,Q8WYD5_HUMAN,Q8WYD4_HUMAN,Q8WYD3_HUMAN,Q8WYD2_HUMAN,Q8WYD1_HUMAN,Q8WYD0_HUMAN,Q8WYC9_HUMAN,Q8WYC8_HUMAN,Q8WYC7_HUMAN,Q8WYC6_HUMAN,Q8WYC5_HUMAN,Q8WYC4_HUMAN,Q8WYC3_HUMAN,Q8WYC2_HUMAN,Q8WYC1_HUMAN,Q8WYC0_HUMAN,Q8WYB9_HUMAN,Q8WYB8_HUMAN,Q8WTQ2_HUMAN,Q7KZ40_HUMAN,Q7KYP7_HUMAN,Q548X2_HUMAN,Q14205_HUMAN,F2WSI7_HUMAN,E7EQS5_HUMAN		23	3208	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	UPI000049E111	988			Spectrin 6.		SNV	DMD,synonymous_variant,p.=,ENST00000357033,NM_004007.2,NM_000109.3,NM_004006.2,NM_004014.2,NM_004012.3,NM_004011.3;DMD,synonymous_variant,p.=,ENST00000378677,NM_004009.3,NM_004010.3,NM_004014.2,NM_004012.3,NM_004011.3;DMD,intron_variant,,ENST00000420596,;DMD,intron_variant,,ENST00000448370,;DMD,intron_variant,,ENST00000488902,;	uc004dda.1	c.2964T>C	3171/13956	3	3			c.2964T>C						23	SNP	c.(2962-2964)TCT>TCC	4	4			ovary(3)|pancreas(2)|large_intestine(1)	6	Broad	dystrophin Dp427m isoform			32486813		0.333	ENSG00000198947	4501	g.chrX:32486813A>G	muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding							10.415787	KEEP	5	1	-1	16	29	5	1	-1	16.76846	16	29	0.12766	1	0	0	0	0	0	0	1	0	--	--		0	G			DMD_uc004dcz.2_Silent_p.S865S|DMD_uc004dcy.1_Silent_p.S984S|DMD_uc004ddb.1_Silent_p.S980S|DMD_uc010ngo.1_Intron	240	GBM-32-2632-TP	p.S988S	A	GCTCTTGCAGAGAACTTTGTA	NM_004006	NP_003997	32486813	P11532	DMD_HUMAN	0			23	3208	-	G	G		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	Silent	988			Spectrin 6.			
DMRT1	1761	broad.mit.edu	GRCh37	9	842164	842164	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-06-2567-01	TCGA-06-2567-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382276.3:c.327del	p.Glu110ArgfsTer5	p.E110Rfs*5	ENST00000382276	NM_021951.2	109	gCc/gc	0			1			-	A/X	uc003zgv.2	protein_coding	YES	CCDS6442.1			326/1122									ovary(1)	1	c.(325-327)GCCfs			PROSITE_profiles:PS50809,hmmpanther:PTHR12322:SF64,hmmpanther:PTHR12322,Pfam_domain:PF00751,Gene3D:1lpvA00,SMART_domains:SM00301,Superfamily_domains:0040609	doublesex and mab-3 related transcription factor				ENSP00000371711		5-Jan										5-Jan	.		ENST00000382276	Transcript	1		cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	ENSG00000137090	g.chr9:842164delC	2934	1		HIGH								--	--	1																																		DMRT1_uc003zgu.1_Frame_Shift_Del_p.A109fs		1			p.A109fs	NM_021951	NP_068770				DMRT1_HUMAN	DMRT1	HGNC	Q9Y5R6	DMRT1_HUMAN		Lung(218;0.037)	H3BN61_HUMAN		1	475	+		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)	UPI00000008AC	109			DM.		deletion	DMRT1,frameshift_variant,p.Glu110ArgfsTer5,ENST00000382276,NM_021951.2;DMRT1,upstream_gene_variant,,ENST00000569227,;DMRT1,non_coding_transcript_exon_variant,,ENST00000564322,;	uc003zgv.2	c.326delC	475/2222	5	5			c.326delC						9	DEL	c.(325-327)GCCfs	63	63			ovary(1)	1	Broad	doublesex and mab-3 related transcription factor			842164		0.567	ENSG00000137090	4506	g.chr9:842164delC	cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity																				0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			DMRT1_uc003zgu.1_Frame_Shift_Del_p.A109fs	89	GBM-06-2567-TP	p.A109fs	C	AACCTGATCGCCGAGAGGCAG	NM_021951	NP_068770	842164	Q9Y5R6	DMRT1_HUMAN	0		Lung(218;0.037)	1	475	+	-	-		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)	Frame_Shift_Del	109			DM.			
DMRT3	58524	broad.mit.edu	GRCh37	9	990484	990484	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5410-01	TCGA-06-5410-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000190165.2:c.898G>A	p.Ala300Thr	p.A300T	ENST00000190165	NM_021240.3	300	Gca/Aca	0		A:0	1	A:0		A	A/T	uc003zgw.1	protein_coding	YES	CCDS6443.1			898/1419									ovary(2)|central_nervous_system(1)	3	c.(898-900)GCA>ACA			hmmpanther:PTHR12322:SF62,hmmpanther:PTHR12322	doublesex and mab-3 related transcription factor		A:0		ENSP00000190165	A:0	2-Feb	8.24E-06							6.06E-05	rs569551719,COSM3413858	2-Feb	.		ENST00000190165	Transcript		A:0.0002	cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	ENSG00000064218	g.chr9:990484G>A	13909			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=DMRT3_HUMAN&rb=287&re=472&var=A300T	NA	getma.org/?cm=var&var=hg19,9,990484,G,A&fts=all	A300T	--	--	1																																			0,1	1		benign(0.031)	p.A300T	NM_021240	NP_067063	A:0.001	tolerated(0.14)	0,1	DMRT3_HUMAN	DMRT3	HGNC	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	Q9NRR0_HUMAN		2	936	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	UPI0000073634	300					SNV	DMRT3,missense_variant,p.Ala300Thr,ENST00000190165,NM_021240.3;DMRT3,downstream_gene_variant,,ENST00000417254,;	uc003zgw.1	c.898G>A	936/2183	2	2			c.898G>A						9	SNP	c.(898-900)GCA>ACA	46	46			ovary(2)|central_nervous_system(1)	3	Broad	doublesex and mab-3 related transcription factor			990484		0.582	ENSG00000064218	4508	g.chr9:990484G>A	cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity							-12.458712	KEEP	1	3	-1	33	58	1	3	-1	8.069227	33	58	0.043478	1	0	0	0	0	1	0	0	0	--	--		0	A				93	GBM-06-5410-TP	p.A300T	G	GCGAACTTCCGCAGAACCTGA	NM_021240	NP_067063	990484	Q9NQL9	DMRT3_HUMAN	0		Lung(218;0.0196)	2	936	+	A	A		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	Missense_Mutation	300						
DMRT3	0	broad.mit.edu	GRCh37	9	977245	977245	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-26-1439-01	TCGA-26-1439-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000190165.2:c.244A>G	p.Ser82Gly	p.S82G	ENST00000190165	NM_021240.3	82	Agc/Ggc	0			1			G	S/G	uc003zgw.1	protein_coding	YES	CCDS6443.1			244/1419									ovary(2)|central_nervous_system(1)	3	c.(244-246)AGC>GGC			hmmpanther:PTHR12322:SF62,hmmpanther:PTHR12322	doublesex and mab-3 related transcription factor				ENSP00000190165		2-Jan									COSM2156880	2-Jan	.		ENST00000190165	Transcript			cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	ENSG00000064218	g.chr9:977245A>G	13909			MODERATE		2.135	medium	getma.org/?cm=msa&ty=f&p=DMRT3_HUMAN&rb=72&re=247&var=S82G	NA	getma.org/?cm=var&var=hg19,9,977245,A,G&fts=all	S82G	--	--	1																																			1	1		benign(0.106)	p.S82G	NM_021240	NP_067063		tolerated(0.05)	1	DMRT3_HUMAN	DMRT3	HGNC	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	Q9NRR0_HUMAN		1	282	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	UPI0000073634	82					SNV	DMRT3,missense_variant,p.Ser82Gly,ENST00000190165,NM_021240.3;	uc003zgw.1	c.244A>G	282/2183	3	3			c.244A>G						9	SNP	c.(244-246)AGC>GGC	14	14			ovary(2)|central_nervous_system(1)	3	Broad	doublesex and mab-3 related transcription factor			977245		0.483	ENSG00000064218	4508	g.chr9:977245A>G	cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity							41.765818	KEEP	5	12	-1	6	14	5	12	-1	42.091366	6	14	0.393939	1	0	0	0	0	1	0	0	0	--	--		0	G				179	GBM-26-1439-TP	p.S82G	A	GGCCAACGAGAGCTTGGAGAG	NM_021240	NP_067063	977245	Q9NQL9	DMRT3_HUMAN	0		Lung(218;0.0196)	1	282	+	G	G		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	Missense_Mutation	82						
DMRT3	58524		GRCh37	9	990870	990870	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000190165.2:c.1284C>T	p.Arg428=	p.R428=	ENST00000190165	NM_021240.3	428	cgC/cgT	0																																																																																																																																																																																																																																												
DMRTA1	63951	broad.mit.edu	GRCh37	9	22447335	22447336	+	stop_gained,frameshift_variant	Nonsense_Mutation	INS	-	-	A	rs111465355		TCGA-06-0174-01	TCGA-06-0174-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325870.2:c.272dup	p.Tyr91Ter	p.Y91*	ENST00000325870	NM_022160.2	91	tac/tAac	0			1			A	Y/*	uc003zpp.1	protein_coding	YES	CCDS6514.1			271-272/1515									large_intestine(1)|skin(1)	2	c.(271-273)TACfs			hmmpanther:PTHR12322,hmmpanther:PTHR12322:SF13	DMRT-like family A1				ENSP00000319651		2-Jan									TMP_ESP_9_22447336_22447335	2-Jan	.		ENST00000325870	Transcript			cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	ENSG00000176399	g.chr9:22447335_22447336insA	13826	1		HIGH								--	--	1																																				1			p.Y91fs	NM_022160	NP_071443				DMRTA_HUMAN	DMRTA1	HGNC	Q5VZB9	DMRTA_HUMAN		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)			1	496_497	+		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)	UPI000014178A	91					insertion	DMRTA1,stop_gained,p.Tyr91Ter,ENST00000325870,NM_022160.2;	uc003zpp.1	c.271_272insA	496-497/5569	5	5			c.271_272insA						9	INS	c.(271-273)TACfs	64	64			large_intestine(1)|skin(1)	2	Broad	DMRT-like family A1			22447336		0.624	ENSG00000176399	4509	g.chr9:22447335_22447336insA	cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity																				0.33	1	0	0	1	1	0	0	0	0	--	--		0	A				37	GBM-06-0174-TP	p.Y91fs	-	GGGCTGCGGCTACCCGCGGACG	NM_022160	NP_071443	22447335	Q5VZB9	DMRTA_HUMAN	0		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)	1	496_497	+	A	A		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)	Frame_Shift_Ins	91						
DMRTB1	0	broad.mit.edu	GRCh37	1	53932300	53932300	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-12-0616-01	TCGA-12-0616-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371445.3:c.994C>G	p.Pro332Ala	p.P332A	ENST00000371445	NM_033067.1	332	Ccc/Gcc	0			1			G	P/A	uc001cvq.1	protein_coding	YES	CCDS581.1			994/1029									ovary(1)|skin(1)	2	c.(994-996)CCC>GCC			Low_complexity_(Seg):seg	DMRT-like family B with proline-rich C-terminal,				ENSP00000360500		4-Apr									COSM2153566	4-Apr	.		ENST00000371445	Transcript			sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	ENSG00000143006	g.chr1:53932300C>G	13913			MODERATE		2.075	medium	getma.org/?cm=msa&ty=f&p=DMRTB_HUMAN&rb=254&re=342&var=P332A	NA	getma.org/?cm=var&var=hg19,1,53932300,C,G&fts=all	P332A	--	--	1																																			1	1		unknown(0)	p.P332A	NM_033067	NP_149056		tolerated(0.11)	1	DMRTB_HUMAN	DMRTB1	HGNC	Q96MA1	DMRTB_HUMAN			I6L9A0_HUMAN		4	1049	+			UPI000006FF4C	332					SNV	DMRTB1,missense_variant,p.Pro332Ala,ENST00000371445,NM_033067.1;DMRTB1,downstream_gene_variant,,ENST00000463126,;	uc001cvq.1	c.994C>G	1049/1910	3	3			c.994C>G						1	SNP	c.(994-996)CCC>GCC	53	53			ovary(1)|skin(1)	2	Broad	DMRT-like family B with proline-rich C-terminal,			53932300		0.552	ENSG00000143006	4510	g.chr1:53932300C>G	sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity							228.189718	KEEP	64	65	-1	169	142	64	65	-1	241.814574	169	142	0.284404	1	0	0	0	0	1	0	0	0	--	--		0	G				118	GBM-12-0616-TP	p.P332A	C	GTCGGGTGAGCCCAGCCAGCC	NM_033067	NP_149056	53932300	Q96MA1	DMRTB_HUMAN	0			4	1049	+	G	G			Missense_Mutation	332						
DMRTB1	0	broad.mit.edu	GRCh37	1	53925199	53925199	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-32-2494-01	TCGA-32-2494-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371445.3:c.73G>T	p.Gly25Ter	p.G25*	ENST00000371445	NM_033067.1	25	Gga/Tga	0			1			T	G/*	uc001cvq.1	protein_coding	YES	CCDS581.1			73/1029									ovary(1)|skin(1)	2	c.(73-75)GGA>TGA			PROSITE_profiles:PS50809,hmmpanther:PTHR12322,hmmpanther:PTHR12322:SF18,PROSITE_patterns:PS40000,Gene3D:1lpvA00,Pfam_domain:PF00751,SMART_domains:SM00301,Superfamily_domains:0040609	DMRT-like family B with proline-rich C-terminal,				ENSP00000360500		4-Jan									COSM3400879	4-Jan	.		ENST00000371445	Transcript			sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	ENSG00000143006	g.chr1:53925199G>T	13913			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,53925199,G,T&fts=all	G25*	--	--	1																																			1	1			p.G25*	NM_033067	NP_149056			1	DMRTB_HUMAN	DMRTB1	HGNC	Q96MA1	DMRTB_HUMAN			I6L9A0_HUMAN		1	128	+			UPI000006FF4C	25			DM.		SNV	DMRTB1,stop_gained,p.Gly25Ter,ENST00000371445,NM_033067.1;DMRTB1,upstream_gene_variant,,ENST00000463126,;	uc001cvq.1	c.73G>T	128/1910	5	2			c.73G>T						1	SNP	c.(73-75)GGA>TGA	24	24			ovary(1)|skin(1)	2	Broad	DMRT-like family B with proline-rich C-terminal,			53925199		0.602	ENSG00000143006	4510	g.chr1:53925199G>T	sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity							34.188772	KEEP	5	7	0.416666667	9	14	5	7	0.416666667	34.952614	9	14	0.342857	1	0	0	0	0	0	1	0	0	--	--		0	T				236	GBM-32-2494-TP	p.G25*	G	GCCCGTCAAGGGACACGCGGG	NM_033067	NP_149056	53925199	Q96MA1	DMRTB_HUMAN	0			1	128	+	T	T			Nonsense_Mutation	25			DM.			
DMRTB1	63948		GRCh37	1	53930361	53930361	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000371445.3:c.802C>T	p.Pro268Ser	p.P268S	ENST00000371445	NM_033067.1	268	Ccg/Tcg	0																																																																																																																																																																																																																																												
DMRTC2	0	broad.mit.edu	GRCh37	19	42352997	42352997	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-26-5132-01	TCGA-26-5132-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269945.3:c.582C>T	p.Cys194=	p.C194=	ENST00000269945	NM_001040283.1	194	tgC/tgT	0			1			T	C	uc002ors.2	protein_coding	YES	CCDS33034.1			582/1104										0	c.(580-582)TGC>TGT			hmmpanther:PTHR12322:SF12,hmmpanther:PTHR12322	DMRT-like family C2				ENSP00000269945		9-May									COSM3404281	9-May	.		ENST00000269945	Transcript			cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	ENSG00000142025	g.chr19:42352997C>T	13911			LOW								--	--	1																																		DMRTC2_uc002orr.1_Silent_p.C71C|DMRTC2_uc010xwe.1_Silent_p.C194C	1	1			p.C194C	NM_001040283	NP_001035373			1	DMRTD_HUMAN	DMRTC2	HGNC	Q8IXT2	DMRTD_HUMAN			M0R2D7_HUMAN,M0R1Z9_HUMAN,M0QZH7_HUMAN		5	665	+			UPI0000071B2A	194			Pro-rich.		SNV	DMRTC2,synonymous_variant,p.=,ENST00000269945,NM_001040283.1;DMRTC2,synonymous_variant,p.=,ENST00000596827,;LYPD4,upstream_gene_variant,,ENST00000330743,NM_173506.4;LYPD4,upstream_gene_variant,,ENST00000601246,;DMRTC2,downstream_gene_variant,,ENST00000596660,;DMRTC2,downstream_gene_variant,,ENST00000600017,;DMRTC2,downstream_gene_variant,,ENST00000596258,;DMRTC2,downstream_gene_variant,,ENST00000602098,;DMRTC2,missense_variant,p.Pro208Ser,ENST00000601660,;DMRTC2,upstream_gene_variant,,ENST00000599022,;	uc002ors.2	c.582C>T	633/1792	2	2			c.582C>T						19	SNP	c.(580-582)TGC>TGT	44	44				0	Broad	DMRT-like family C2			42352997		0.498	ENSG00000142025	4511	g.chr19:42352997C>T	cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity							-46.083945	KEEP	3	2	-1	97	153	3	2	-1	7.443898	97	153	0.023585	1	0	0	0	0	0	0	1	0	--	--		0	T			DMRTC2_uc002orr.1_Silent_p.C71C|DMRTC2_uc010xwe.1_Silent_p.C194C	181	GBM-26-5132-TP	p.C194C	C	CAGTGGTGTGCCGCCTGCTGT	NM_001040283	NP_001035373	42352997	Q8IXT2	DMRTD_HUMAN	0			5	665	+	T	T			Silent	194			Pro-rich.			
DMTF1	0	broad.mit.edu	GRCh37	7	86811558	86811558	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-0740-01	TCGA-14-0740-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331242.7:c.725A>G	p.His242Arg	p.H242R	ENST00000331242	NM_001142326.1	242	cAt/cGt	0			1			G	H/R	uc003uih.2	protein_coding		CCDS5601.1			725/2283									ovary(1)|central_nervous_system(1)	2	c.(724-726)CAT>CGT			PROSITE_profiles:PS50090,hmmpanther:PTHR10641:SF463,hmmpanther:PTHR10641,Pfam_domain:PF00249,Gene3D:1.10.10.60,SMART_domains:SM00717,Superfamily_domains:SSF46689	cyclin D binding myb-like transcription factor 1				ENSP00000332171		18-Oct									COSM3412433	18-Oct	.		ENST00000331242	Transcript			cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000135164	g.chr7:86811558A>G	14603			MODERATE		2.21	medium	getma.org/?cm=msa&ty=f&p=DMTF1_HUMAN&rb=225&re=263&var=H242R	getma.org/pdb.php?prot=DMTF1_HUMAN&from=225&to=263&var=H242R	getma.org/?cm=var&var=hg19,7,86811558,A,G&fts=all	H242R	--	--	1																																		DMTF1_uc003uii.2_5'UTR|DMTF1_uc003uij.2_5'UTR|DMTF1_uc011khb.1_Missense_Mutation_p.H154R|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Missense_Mutation_p.H242R|DMTF1_uc003uin.2_5'UTR	1			probably_damaging(0.993)	p.H242R	NM_001142327	NP_001135799		deleterious(0)	1	DMTF1_HUMAN	DMTF1	HGNC	Q9Y222	DMTF1_HUMAN			J3KRC1_HUMAN,D6W5P0_HUMAN,C9K0L9_HUMAN,C9K0K9_HUMAN,C9JZZ6_HUMAN,C9JVQ7_HUMAN,C9JLR5_HUMAN,C9JGT5_HUMAN,C9JFR2_HUMAN,C9JED5_HUMAN,C9J8Y5_HUMAN,C9J4F7_HUMAN,B3KVS2_HUMAN		10	1051	+	Esophageal squamous(14;0.0058)		UPI000006FB78	242			Interaction with CCND1, CCND2 and CCND3 (By similarity).|Myb-like 1.|Required for DNA-binding (By similarity).		SNV	DMTF1,missense_variant,p.His242Arg,ENST00000394703,NM_021145.3;DMTF1,missense_variant,p.His242Arg,ENST00000331242,NM_001142326.1,NM_001142327.1;DMTF1,missense_variant,p.His242Arg,ENST00000413276,;DMTF1,missense_variant,p.His154Arg,ENST00000432937,;DMTF1,5_prime_UTR_variant,,ENST00000414194,;DMTF1,3_prime_UTR_variant,,ENST00000411766,;DMTF1,downstream_gene_variant,,ENST00000394702,;DMTF1,downstream_gene_variant,,ENST00000425705,;DMTF1,downstream_gene_variant,,ENST00000430405,;DMTF1,missense_variant,p.His242Arg,ENST00000547146,;DMTF1,missense_variant,p.His201Arg,ENST00000579850,;DMTF1,3_prime_UTR_variant,,ENST00000412139,;DMTF1,3_prime_UTR_variant,,ENST00000447863,;DMTF1,3_prime_UTR_variant,,ENST00000579677,;DMTF1,3_prime_UTR_variant,,ENST00000425406,;DMTF1,3_prime_UTR_variant,,ENST00000584619,;DMTF1,non_coding_transcript_exon_variant,,ENST00000473521,;DMTF1,non_coding_transcript_exon_variant,,ENST00000582887,;DMTF1,upstream_gene_variant,,ENST00000480982,;DMTF1,upstream_gene_variant,,ENST00000578926,;	uc003uih.2	c.725A>G	1051/3801	3	3			c.725A>G						7	SNP	c.(724-726)CAT>CGT	60	60			ovary(1)|central_nervous_system(1)	2	Broad	cyclin D binding myb-like transcription factor 1			86811558		0.433	ENSG00000135164	4512	g.chr7:86811558A>G	cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity							10.692348	KEEP	6	4	-1	52	27	6	4	-1	22.418653	52	27	0.120482	1	0	0	0	0	1	0	0	0	--	--		0	G			DMTF1_uc003uii.2_5'UTR|DMTF1_uc003uij.2_5'UTR|DMTF1_uc011khb.1_Missense_Mutation_p.H154R|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Missense_Mutation_p.H242R|DMTF1_uc003uin.2_5'UTR	132	GBM-14-0740-TP	p.H242R	A	CGGATAAAGCATGGCAATGAC	NM_001142327	NP_001135799	86811558	Q9Y222	DMTF1_HUMAN	0			10	1051	+	G	G	Esophageal squamous(14;0.0058)		Missense_Mutation	242			Interaction with CCND1, CCND2 and CCND3 (By similarity).|Myb-like 1.|Required for DNA-binding (By similarity).			
DMTF1	9988		GRCh37	7	86815172	86815172	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000394703.5:c.1077A>G	p.Glu359=	p.E359=	ENST00000394703	NM_021145.3	359	gaA/gaG	0																																																																																																																																																																																																																																												
DMXL1	1657	broad.mit.edu	GRCh37	5	118503534	118503534	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0648-01	TCGA-06-0648-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311085.8:c.5373A>G	p.Ile1791Met	p.I1791M	ENST00000311085	NM_005509.4	1791	atA/atG	0			1			G	I/M	uc003ksd.2	protein_coding	YES	CCDS4125.1			5373/9084									ovary(2)	2	c.(5371-5373)ATA>ATG			hmmpanther:PTHR13950,hmmpanther:PTHR13950:SF12,Pfam_domain:PF12234	Dmx-like 1				ENSP00000309690		23/43									COSM3409674	23/43	.		ENST00000311085	Transcript						ENSG00000172869	g.chr5:118503534A>G	2937			MODERATE		2.22	medium	getma.org/?cm=msa&ty=f&p=DMXL1_HUMAN&rb=1288&re=1876&var=I1791M	NA	getma.org/?cm=var&var=hg19,5,118503534,A,G&fts=all	I1791M	--	--	1																																		DMXL1_uc010jcl.1_Missense_Mutation_p.I1791M	1	1		probably_damaging(0.952)	p.I1791M	NM_005509	NP_005500		deleterious(0)	1	DMXL1_HUMAN	DMXL1	HGNC	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	F1T0K4_HUMAN,E7EMZ0_HUMAN		23	5554	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	UPI000013F0EC	1791					SNV	DMXL1,missense_variant,p.Ile1791Met,ENST00000311085,NM_005509.4;DMXL1,missense_variant,p.Ile1791Met,ENST00000539542,;DMXL1,non_coding_transcript_exon_variant,,ENST00000504497,;DMXL1,upstream_gene_variant,,ENST00000507552,;	uc003ksd.2	c.5373A>G	5453/11072	3	3			c.5373A>G						5	SNP	c.(5371-5373)ATA>ATG	5	5			ovary(2)	2	Broad	Dmx-like 1			118503534		0.343	ENSG00000172869	4514	g.chr5:118503534A>G										12.570244	KEEP	1	10	-1	61	45	1	10	-1	30.088794	61	45	0.09434	1	0	0	0	0	1	0	0	0	--	--		0	G			DMXL1_uc010jcl.1_Missense_Mutation_p.I1791M	61	GBM-06-0648-TP	p.I1791M	A	AAACATTAATAAAGCAACCTA	NM_005509	NP_005500	118503534	Q9Y485	DMXL1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	23	5554	+	G	G		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	Missense_Mutation	1791						
DNAAF1	123872	broad.mit.edu	GRCh37	16	84203617	84203617	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0190-01	TCGA-06-0190-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378553.5:c.1183A>T	p.Ser395Cys	p.S395C	ENST00000378553	NM_178452.4	395	Agt/Tgt	0			1			T	S/C	uc002fhl.3	protein_coding	YES	CCDS10943.2			1183/2178										0	c.(1183-1185)AGT>TGT			hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF208	leucine rich repeat containing 50				ENSP00000367815		12-Aug									COSM3402523	12-Aug	.	Kartagener_syndrome	ENST00000378553	Transcript	1		axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	ENSG00000154099	g.chr16:84203617A>T	30539			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=DAAF1_HUMAN&rb=201&re=400&var=S395C	NA	getma.org/?cm=var&var=hg19,16,84203617,A,T&fts=all	S395C	--	--	1																																		LRRC50_uc010vnw.1_Missense_Mutation_p.S159C	1	1		probably_damaging(0.936)	p.S395C	NM_178452	NP_848547		deleterious(0.01)	1	DAAF1_HUMAN	DNAAF1	HGNC	Q8NEP3	DAAF1_HUMAN			H3BP51_HUMAN		8	1364	+			UPI000059D3C9	395			Pro-rich.		SNV	DNAAF1,missense_variant,p.Ser395Cys,ENST00000378553,NM_178452.4;DNAAF1,missense_variant,p.Ser395Cys,ENST00000334315,;DNAAF1,non_coding_transcript_exon_variant,,ENST00000563818,;DNAAF1,downstream_gene_variant,,ENST00000567666,;DNAAF1,missense_variant,p.Ser395Cys,ENST00000563093,;DNAAF1,non_coding_transcript_exon_variant,,ENST00000570298,;	uc002fhl.3	c.1183A>T	1307/2379	2	2			c.1183A>T						16	SNP	c.(1183-1185)AGT>TGT	42	42				0	Broad	leucine rich repeat containing 50			84203617	Kartagener_syndrome	0.577	ENSG00000154099	8840	g.chr16:84203617A>T	axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding							54.575329	KEEP	14	16	-1	27	48	14	16	-1	59.119456	27	48	0.261364	1	0	0	0	0	1	0	0	0	--	--		0	T			LRRC50_uc010vnw.1_Missense_Mutation_p.S159C	43	GBM-06-0190-TP	p.S395C	A	GGAAAAGCCAAGTGGAGAGGA	NM_178452	NP_848547	84203617	Q8NEP3	DAAF1_HUMAN	0			8	1364	+	T	T			Missense_Mutation	395			Pro-rich.			
DNAAF1	0	broad.mit.edu	GRCh37	16	84203678	84203678	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378553.5:c.1244C>T	p.Thr415Ile	p.T415I	ENST00000378553	NM_178452.4	415	aCc/aTc	0		T:0	1	T:0		T	T/I	uc002fhl.3	protein_coding	YES	CCDS10943.2			1244/2178										0	c.(1243-1245)ACC>ATC			hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF208	leucine rich repeat containing 50		T:0.001		ENSP00000367815	T:0	12-Aug	8.24E-06			0.000116					rs200666817,COSM3402524	12-Aug	.	Kartagener_syndrome	ENST00000378553	Transcript	1	T:0.0002	axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	ENSG00000154099	g.chr16:84203678C>T	30539			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=DAAF1_HUMAN&rb=401&re=600&var=T415I	NA	getma.org/?cm=var&var=hg19,16,84203678,C,T&fts=all	T415I	--	--	1																																		LRRC50_uc010vnw.1_Missense_Mutation_p.T179I	0,1	1		benign(0.075)	p.T415I	NM_178452	NP_848547	T:0	tolerated(0.17)	0,1	DAAF1_HUMAN	DNAAF1	HGNC	Q8NEP3	DAAF1_HUMAN			H3BP51_HUMAN		8	1425	+			UPI000059D3C9	415			Pro-rich.		SNV	DNAAF1,missense_variant,p.Thr415Ile,ENST00000378553,NM_178452.4;DNAAF1,intron_variant,,ENST00000334315,;DNAAF1,non_coding_transcript_exon_variant,,ENST00000563818,;DNAAF1,downstream_gene_variant,,ENST00000567666,;DNAAF1,non_coding_transcript_exon_variant,,ENST00000570298,;DNAAF1,intron_variant,,ENST00000563093,;	uc002fhl.3	c.1244C>T	1368/2379	2	2			c.1244C>T						16	SNP	c.(1243-1245)ACC>ATC	22	22				0	Broad	leucine rich repeat containing 50			84203678	Kartagener_syndrome	0.617	ENSG00000154099	8840	g.chr16:84203678C>T	axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding							26.530159	KEEP	14	5	-1	25	45	14	5	-1	33.528193	25	45	0.192308	1	0	0	0	0	1	0	0	0	--	--		0	T			LRRC50_uc010vnw.1_Missense_Mutation_p.T179I	159	GBM-19-1390-TP	p.T415I	C	CCAGAGGGGACCCTCCCAGCT	NM_178452	NP_848547	84203678	Q8NEP3	DAAF1_HUMAN	0			8	1425	+	T	T			Missense_Mutation	415			Pro-rich.			
DNAAF1	0	broad.mit.edu	GRCh37	16	84203580	84203580	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-2623-01	TCGA-19-2623-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378553.5:c.1146C>A	p.Ser382Arg	p.S382R	ENST00000378553	NM_178452.4	382	agC/agA	0			1			A	S/R	uc002fhl.3	protein_coding	YES	CCDS10943.2			1146/2178										0	c.(1144-1146)AGC>AGA			hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF208	leucine rich repeat containing 50				ENSP00000367815		12-Aug									COSM3402522	12-Aug	.	Kartagener_syndrome	ENST00000378553	Transcript	1		axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	ENSG00000154099	g.chr16:84203580C>A	30539			MODERATE		2.14	medium	getma.org/?cm=msa&ty=f&p=DAAF1_HUMAN&rb=201&re=400&var=S382R	NA	getma.org/?cm=var&var=hg19,16,84203580,C,A&fts=all	S382R	--	--	1																																		LRRC50_uc010vnw.1_Missense_Mutation_p.S146R	1	1		possibly_damaging(0.898)	p.S382R	NM_178452	NP_848547		deleterious(0)	1	DAAF1_HUMAN	DNAAF1	HGNC	Q8NEP3	DAAF1_HUMAN			H3BP51_HUMAN		8	1327	+			UPI000059D3C9	382					SNV	DNAAF1,missense_variant,p.Ser382Arg,ENST00000378553,NM_178452.4;DNAAF1,missense_variant,p.Ser382Arg,ENST00000334315,;DNAAF1,non_coding_transcript_exon_variant,,ENST00000563818,;DNAAF1,non_coding_transcript_exon_variant,,ENST00000567666,;DNAAF1,missense_variant,p.Ser382Arg,ENST00000563093,;DNAAF1,non_coding_transcript_exon_variant,,ENST00000570298,;	uc002fhl.3	c.1146C>A	1270/2379	2	2			c.1146C>A						16	SNP	c.(1144-1146)AGC>AGA	24	24				0	Broad	leucine rich repeat containing 50			84203580	Kartagener_syndrome	0.577	ENSG00000154099	8840	g.chr16:84203580C>A	axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding							32.347689	KEEP	9	8	0.470588235	36	38	9	8	0.470588235	40.719462	36	38	0.181818	1	0	0	0	0	1	0	0	0	--	--		0	A			LRRC50_uc010vnw.1_Missense_Mutation_p.S146R	163	GBM-19-2623-TP	p.S382R	C	TTAAGGAAAGCTTTGAGGCCA	NM_178452	NP_848547	84203580	Q8NEP3	DAAF1_HUMAN	0			8	1327	+	A	A			Missense_Mutation	382						
DNAH1	25981	broad.mit.edu	GRCh37	3	52422625	52422625	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000420323.2:c.9363G>A		p.X3121_splice	ENST00000420323	NM_015512.4	3121	aaG/aaA	0			1			A	K	uc011bef.1	protein_coding	YES	CCDS46842.1			9363/12798									large_intestine(3)	3	c.(9361-9363)AAG>AAA			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF12777,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF137	dynein, axonemal, heavy chain 1				ENSP00000401514		58/78									COSM3408788,COSM3408787	58/78	.		ENST00000420323	Transcript	1		ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000114841	g.chr3:52422625G>A	2940			LOW								--	--	1																																		DNAH1_uc003ddv.2_5'UTR	1,1	1			p.K3121K	NM_015512	NP_056327			1,1	DYH1_HUMAN	DNAH1	HGNC	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)			58	9624	+			UPI0001AE79D6	3121			Potential.		SNV	DNAH1,splice_region_variant,p.=,ENST00000420323,NM_015512.4;DNAH1,upstream_gene_variant,,ENST00000480649,;DNAH1,splice_region_variant,p.=,ENST00000490713,;DNAH1,non_coding_transcript_exon_variant,,ENST00000486752,;DNAH1,non_coding_transcript_exon_variant,,ENST00000488988,;	uc011bef.1	c.9363G>A	9624/13104	1	1			c.9363G>A						3	SNP	c.(9361-9363)AAG>AAA	54	54			large_intestine(3)	3	Broad	dynein, axonemal, heavy chain 1			52422625		0.657	ENSG00000114841	4517	g.chr3:52422625G>A	ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							12.464893	KEEP	2	3	-1	7	10	2	3	-1	13.601546	7	10	0.25	1	0	0	0	0	0	0	1	0	--	--		0	A			DNAH1_uc003ddv.2_5'UTR	26	GBM-06-0154-TP	p.K3121K	G	GAGCTGGCAAGGTGCGCACCC	NM_015512	NP_056327	52422625	Q9P2D7	DYH1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	58	9624	+	A	A			Silent	3121			Potential.			
DNAH1	0	broad.mit.edu	GRCh37	3	52409985	52409986	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-12-0616-01	TCGA-12-0616-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000420323.2:c.7180dupA	p.Ser2394LysfsTer61	p.S2394Kfs*61	ENST00000420323	NM_015512.4	2392	gaa/gAaa	0			1			A	E/EX	uc011bef.1	protein_coding	YES	CCDS46842.1			7174-7175/12798									large_intestine(3)	3	c.(7174-7176)GAAfs			Pfam_domain:PF12775,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF137,Superfamily_domains:SSF52540	dynein, axonemal, heavy chain 1				ENSP00000401514		46/78										46/78	.		ENST00000420323	Transcript	1		ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000114841	g.chr3:52409985_52409986insA	2940	6		HIGH								--	--	1																																				1			p.E2392fs	NM_015512	NP_056327				DYH1_HUMAN	DNAH1	HGNC	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)			46	7435_7436	+			UPI0001AE79D6	2392			AAA 3 (By similarity).		insertion	DNAH1,frameshift_variant,p.Ser2394LysfsTer61,ENST00000420323,NM_015512.4;DNAH1,non_coding_transcript_exon_variant,,ENST00000486752,;RP11-168J18.6,downstream_gene_variant,,ENST00000495716,;	uc011bef.1	c.7174_7175insA	7435-7436/13104	5	5			c.7174_7175insA						3	INS	c.(7174-7176)GAAfs	55	55			large_intestine(3)	3	Broad	dynein, axonemal, heavy chain 1			52409986		0.609	ENSG00000114841	4517	g.chr3:52409985_52409986insA	ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity																				0.35	1	0	0	1	1	0	0	0	0	--	--		0	A				118	GBM-12-0616-TP	p.E2392fs	-	ACTCCTTGGAGAAAAAAGCTAC	NM_015512	NP_056327	52409985	Q9P2D7	DYH1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	46	7435_7436	+	A	A			Frame_Shift_Ins	2392			AAA 3 (By similarity).			
DNAH1	0	broad.mit.edu	GRCh37	3	52417479	52417479	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-1034-01	TCGA-14-1034-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000420323.2:c.8019C>T	p.Asp2673=	p.D2673=	ENST00000420323	NM_015512.4	2673	gaC/gaT	0			1			T	D	uc011bef.1	protein_coding	YES	CCDS46842.1			8019/12798									large_intestine(3)	3	c.(8017-8019)GAC>GAT			Gene3D:3.40.50.300,Pfam_domain:PF12780,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF137	dynein, axonemal, heavy chain 1				ENSP00000401514		51/78	2.48E-05			0.000116		3.02E-05			rs759999285,COSM3408786,COSM3408785	51/78	.		ENST00000420323	Transcript	1		ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000114841	g.chr3:52417479C>T	2940			LOW								--	--	1																																		DNAH1_uc003ddv.2_5'Flank	0,1,1	1			p.D2673D	NM_015512	NP_056327			0,1,1	DYH1_HUMAN	DNAH1	HGNC	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)			51	8280	+			UPI0001AE79D6	2673			AAA 4 (By similarity).		SNV	DNAH1,synonymous_variant,p.=,ENST00000420323,NM_015512.4;DNAH1,non_coding_transcript_exon_variant,,ENST00000486752,;DNAH1,upstream_gene_variant,,ENST00000488988,;	uc011bef.1	c.8019C>T	8280/13104	1	1			c.8019C>T						3	SNP	c.(8017-8019)GAC>GAT	5	5			large_intestine(3)	3	Broad	dynein, axonemal, heavy chain 1			52417479		0.557	ENSG00000114841	4517	g.chr3:52417479C>T	ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							48.9627	KEEP	3	14	-1	11	17	3	14	-1	49.375658	11	17	0.395349	1	0	0	0	0	0	0	1	0	--	--		0	T			DNAH1_uc003ddv.2_5'Flank	142	GBM-14-1034-TP	p.D2673D	C	ATACTGCGGACGAGCAGGACC	NM_015512	NP_056327	52417479	Q9P2D7	DYH1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	51	8280	+	T	T			Silent	2673			AAA 4 (By similarity).			
DNAH1	25981		GRCh37	3	52422839	52422839	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000420323.2:c.9381G>A	p.Ser3127=	p.S3127=	ENST00000420323	NM_015512.4	3127	tcG/tcA	0																																																																																																																																																																																																																																												
DNAH10	196385	broad.mit.edu	GRCh37	12	124330629	124330629	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0645-01	TCGA-06-0645-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409039.3:c.5388C>T	p.Tyr1796=	p.Y1796=	ENST00000409039	NM_207437.3	1796	taC/taT	0	T:0.0002		1			T	Y	uc001uft.3	protein_coding	YES	CCDS9255.2			5388/13416									ovary(3)|skin(2)|central_nervous_system(1)	6	c.(5386-5388)TAC>TAT			Pfam_domain:PF12774,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF135	dynein, axonemal, heavy chain 10			T:0	ENSP00000386770		31/78	4.13E-05	0.000408				1.50E-05			rs372145244,COSM2151298,COSM2151299	31/78	common_variant		ENST00000409039	Transcript			microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000197653	g.chr12:124330629C>T	2941			LOW								--	--	1																																			0,1,1	1			p.Y1796Y	NM_207437	NP_997320			0,1,1	DYH10_HUMAN	DNAH10	HGNC	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)			31	5413	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		UPI00014F7B89	1796			AAA 1 (By similarity).		SNV	DNAH10,synonymous_variant,p.=,ENST00000409039,NM_207437.3;DNAH10,synonymous_variant,p.=,ENST00000497783,;	uc001uft.3	c.5388C>T	5413/14166	1	1			c.5388C>T						12	SNP	c.(5386-5388)TAC>TAT	12	12			ovary(3)|skin(2)|central_nervous_system(1)	6	Broad	dynein, axonemal, heavy chain 10			124330629		0.587	ENSG00000197653	4518	g.chr12:124330629C>T	microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity							64.209871	KEEP	20	14	-1	49	34	20	14	-1	67.28719	49	34	0.291139	1	0	0	0	0	0	0	1	0	--	--		0	T				59	GBM-06-0645-TP	p.Y1796Y	C	GCTACGGCTACGAGTACATGG	NM_207437	NP_997320	124330629	Q8IVF4	DYH10_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	31	5413	+	T	T	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Silent	1796			AAA 1 (By similarity).			
DNAH10	196385	broad.mit.edu	GRCh37	12	124416577	124416577	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0875-01	TCGA-06-0875-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409039.3:c.12864G>A	p.Arg4288=	p.R4288=	ENST00000409039	NM_207437.3	4288	agG/agA	0			1			A	R	uc001uft.3	protein_coding	YES	CCDS9255.2			12864/13416									ovary(3)|skin(2)|central_nervous_system(1)	6	c.(12862-12864)AGG>AGA			Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF135	dynein, axonemal, heavy chain 10				ENSP00000386770		75/78									COSM2152035,COSM2152036	75/78	.		ENST00000409039	Transcript			microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000197653	g.chr12:124416577G>A	2941			LOW								--	--	1																																		DNAH10_uc001ufu.3_Silent_p.R201R	1,1	1			p.R4288R	NM_207437	NP_997320			1,1	DYH10_HUMAN	DNAH10	HGNC	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)			75	12889	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		UPI00014F7B89	4288					SNV	DNAH10,synonymous_variant,p.=,ENST00000409039,NM_207437.3;DNAH10OS,intron_variant,,ENST00000514254,;CCDC92,downstream_gene_variant,,ENST00000545135,;CCDC92,downstream_gene_variant,,ENST00000238156,NM_025140.1;CCDC92,downstream_gene_variant,,ENST00000545891,;RP11-380L11.3,downstream_gene_variant,,ENST00000602292,;DNAH10,non_coding_transcript_exon_variant,,ENST00000538983,;CCDC92,intron_variant,,ENST00000544798,;CCDC92,intron_variant,,ENST00000542348,;DNAH10,non_coding_transcript_exon_variant,,ENST00000492261,;DNAH10,downstream_gene_variant,,ENST00000545078,;	uc001uft.3	c.12864G>A	12889/14166	1	1			c.12864G>A						12	SNP	c.(12862-12864)AGG>AGA	64	64			ovary(3)|skin(2)|central_nervous_system(1)	6	Broad	dynein, axonemal, heavy chain 10			124416577		0.493	ENSG00000197653	4518	g.chr12:124416577G>A	microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity							176.632509	KEEP	31	31	-1	50	31	31	31	-1	177.214576	50	31	0.42963	1	0	0	0	0	0	0	1	0	--	--		0	A			DNAH10_uc001ufu.3_Silent_p.R201R	71	GBM-06-0875-TP	p.R4288R	G	TCTGGAGAAGGCTTGCTCCTG	NM_207437	NP_997320	124416577	Q8IVF4	DYH10_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	75	12889	+	A	A	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Silent	4288						
DNAH10	0	broad.mit.edu	GRCh37	12	124333280	124333280	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01	TCGA-16-1045-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409039.3:c.5599G>A	p.Val1867Met	p.V1867M	ENST00000409039	NM_207437.3	1867	Gtg/Atg	0	A:0		1			A	V/M	uc001uft.3	protein_coding	YES	CCDS9255.2			5599/13416									ovary(3)|skin(2)|central_nervous_system(1)	6	c.(5599-5601)GTG>ATG			Gene3D:3.40.50.300,Pfam_domain:PF12774,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF135,SMART_domains:SM00382,Superfamily_domains:SSF52540	dynein, axonemal, heavy chain 10			A:0.0002	ENSP00000386770		33/78	6.61E-05					7.55E-05		0.000186	rs368019409,COSM3398493,COSM3398494	33/78	.		ENST00000409039	Transcript			microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000197653	g.chr12:124333280G>A	2941			MODERATE		-1.84	neutral	getma.org/?cm=msa&ty=f&p=DYH10_HUMAN&rb=1794&re=2024&var=V1867M	getma.org/pdb.php?prot=DYH10_HUMAN&from=1794&to=2024&var=V1867M	getma.org/?cm=var&var=hg19,12,124333280,G,A&fts=all	V1867M	--	--	1																																			0,1,1	1		benign(0.028)	p.V1867M	NM_207437	NP_997320			0,1,1	DYH10_HUMAN	DNAH10	HGNC	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)			33	5624	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		UPI00014F7B89	1867			AAA 1 (By similarity).		SNV	DNAH10,missense_variant,p.Val1867Met,ENST00000409039,NM_207437.3;DNAH10,missense_variant,p.Val350Met,ENST00000497783,;	uc001uft.3	c.5599G>A	5624/14166	2	2			c.5599G>A						12	SNP	c.(5599-5601)GTG>ATG	34	34			ovary(3)|skin(2)|central_nervous_system(1)	6	Broad	dynein, axonemal, heavy chain 10			124333280		0.443	ENSG00000197653	4518	g.chr12:124333280G>A	microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity							41.630292	KEEP	11	8	-1	37	42	11	8	-1	48.337677	37	42	0.204819	1	0	0	0	0	1	0	0	0	--	--		0	A				157	GBM-16-1045-TP	p.V1867M	G	TTCCTAGGCCGTGGGGAAGAT	NM_207437	NP_997320	124333280	Q8IVF4	DYH10_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	33	5624	+	A	A	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Missense_Mutation	1867			AAA 1 (By similarity).			
DNAH10	0	broad.mit.edu	GRCh37	12	124393905	124393905	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409039.3:c.9559G>A	p.Val3187Met	p.V3187M	ENST00000409039	NM_207437.3	3187	Gtg/Atg	0		A:0.0008	1	A:0		A	V/M	uc001uft.3	protein_coding	YES	CCDS9255.2			9559/13416									ovary(3)|skin(2)|central_nervous_system(1)	6	c.(9559-9561)GTG>ATG			Pfam_domain:PF12777,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF135	dynein, axonemal, heavy chain 10		A:0		ENSP00000386770	A:0	57/78	1.66E-05	0.000127				1.82E-05			rs571654959,COSM3398495,COSM3398496	57/78	.		ENST00000409039	Transcript		A:0.0002	microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000197653	g.chr12:124393905G>A	2941			MODERATE		-1.355	neutral	getma.org/?cm=msa&ty=f&p=DYH10_HUMAN&rb=3045&re=3382&var=V3187M	getma.org/pdb.php?prot=DYH10_HUMAN&from=3045&to=3382&var=V3187M	getma.org/?cm=var&var=hg19,12,124393905,G,A&fts=all	V3187M	--	--	1																																			0,1,1	1		benign(0.003)	p.V3187M	NM_207437	NP_997320	A:0		0,1,1	DYH10_HUMAN	DNAH10	HGNC	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)			57	9584	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		UPI00014F7B89	3187			Stalk (By similarity).		SNV	DNAH10,missense_variant,p.Val3187Met,ENST00000409039,NM_207437.3;DNAH10,missense_variant,p.Val115Met,ENST00000540041,;	uc001uft.3	c.9559G>A	9584/14166	2	2			c.9559G>A						12	SNP	c.(9559-9561)GTG>ATG	29	29			ovary(3)|skin(2)|central_nervous_system(1)	6	Broad	dynein, axonemal, heavy chain 10			124393905		0.502	ENSG00000197653	4518	g.chr12:124393905G>A	microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity							27.934283	KEEP	8	3	-1	5	10	8	3	-1	28.082092	5	10	0.416667	1	0	0	0	0	1	0	0	0	--	--		0	A				162	GBM-19-2620-TP	p.V3187M	G	AGCCAAGGGCGTGATGTCCGA	NM_207437	NP_997320	124393905	Q8IVF4	DYH10_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	57	9584	+	A	A	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Missense_Mutation	3187			Stalk (By similarity).			
DNAH10	196385		GRCh37	12	124298408	124298408	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000409039.3:c.3375A>C	p.Arg1125Ser	p.R1125S	ENST00000409039	NM_207437.3	1125	agA/agC	0																																																																																																																																																																																																																																												
DNAH11	8701	broad.mit.edu	GRCh37	7	21583201	21583201	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01	TCGA-02-2486-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328843.6:c.338C>T	p.Ala113Val	p.A113V	ENST00000328843		113	gCg/gTg	0			1			T	A/V	uc003svc.2	protein_coding		CCDS64602.1			338/13551									ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15	c.(337-339)GCG>GTG			hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF227	dynein, axonemal, heavy chain 11				ENSP00000475939		Jan-82									COSM3411907,COSM3411906	Jan-82	.	Kartagener_syndrome	ENST00000409508	Transcript	1		microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000105877	g.chr7:21583201C>T	2942			MODERATE		0.205	neutral	getma.org/?cm=msa&ty=f&p=Q75MY1_HUMAN&rb=1&re=117&var=A113V	NA	getma.org/?cm=var&var=hg19,7,21583201,C,T&fts=all	A113V	--	--	1																																			1,1			benign(0.006)	p.A113V	NM_003777	NP_003768		tolerated(1)	1,1		DNAH11	HGNC	Q96DT5	DYH11_HUMAN			U3KQJ8_HUMAN,Q75MY1_HUMAN,Q75KM7_HUMAN,O95705_HUMAN,O43352_HUMAN,O15433_HUMAN,H9NAJ8_HUMAN,H9NAJ7_HUMAN		1	369	+			UPI0002B8CE70	113			Stem (By similarity).		SNV	DNAH11,missense_variant,p.Ala113Val,ENST00000328843,;DNAH11,missense_variant,p.Ala113Val,ENST00000409508,NM_001277115.1;DNAH11,non_coding_transcript_exon_variant,,ENST00000607050,;	uc003svc.2	c.338C>T	369/14167	1	1			c.338C>T						7	SNP	c.(337-339)GCG>GTG	2	2			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15	Broad	dynein, axonemal, heavy chain 11			21583201	Kartagener_syndrome	0.617	ENSG00000105877	4519	g.chr7:21583201C>T	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							4.711644	KEEP	3	0	-1	9	10	3	0	-1	7.292312	9	10	0.142857	1	0	0	0	0	1	0	0	0	--	--		0	T				8	GBM-02-2486-TP	p.A113V	C	GGGCGCCTTGCGGCTTCCCAG	NM_003777	NP_003768	21583201	Q96DT5	DYH11_HUMAN	0			1	369	+	T	T			Missense_Mutation	113			Stem (By similarity).			
DNAH11	8701	broad.mit.edu	GRCh37	7	21599234	21599234	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0169-01	TCGA-06-0169-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328843.6:c.706G>A	p.Glu236Lys	p.E236K	ENST00000328843		236	Gaa/Aaa	0			1			A	E/K	uc003svc.2	protein_coding		CCDS64602.1			706/13551									ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15	c.(706-708)GAA>AAA			hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF227	dynein, axonemal, heavy chain 11				ENSP00000475939		Apr-82	8.28E-06					1.68E-05			rs752311298,COSM3411909,COSM3411908	Apr-82	.	Kartagener_syndrome	ENST00000409508	Transcript	1		microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000105877	g.chr7:21599234G>A	2942			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=Q75KM7_HUMAN&rb=119&re=453&var=E119K	NA	getma.org/?cm=var&var=hg19,7,21599234,G,A&fts=all	E119K	--	--	1																																			0,1,1			benign(0.102)	p.E236K	NM_003777	NP_003768		tolerated(0.05)	0,1,1		DNAH11	HGNC	Q96DT5	DYH11_HUMAN			U3KQJ8_HUMAN,Q75MY1_HUMAN,Q75KM7_HUMAN,O95705_HUMAN,O43352_HUMAN,O15433_HUMAN,H9NAJ8_HUMAN,H9NAJ7_HUMAN		4	737	+			UPI0002B8CE70	236			Stem (By similarity).		SNV	DNAH11,missense_variant,p.Glu236Lys,ENST00000328843,;DNAH11,missense_variant,p.Glu236Lys,ENST00000409508,NM_001277115.1;DNAH11,upstream_gene_variant,,ENST00000496218,;DNAH11,upstream_gene_variant,,ENST00000483691,;	uc003svc.2	c.706G>A	737/14167	2	2			c.706G>A						7	SNP	c.(706-708)GAA>AAA	42	42			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15	Broad	dynein, axonemal, heavy chain 11			21599234	Kartagener_syndrome	0.313	ENSG00000105877	4519	g.chr7:21599234G>A	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							31.674998	KEEP	6	7	-1	24	19	6	7	-1	34.759774	24	19	0.24	1	0	0	0	0	1	0	0	0	--	--		0	A				34	GBM-06-0169-TP	p.E236K	G	ACCGTCAAACGAAAGGATAAT	NM_003777	NP_003768	21599234	Q96DT5	DYH11_HUMAN	0			4	737	+	A	A			Missense_Mutation	236			Stem (By similarity).			
DNAH11	8701	broad.mit.edu	GRCh37	7	21698496	21698496	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0184-01	TCGA-06-0184-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328843.6:c.5190C>T	p.Tyr1730=	p.Y1730=	ENST00000328843		1730	taC/taT	0			1			T	Y	uc003svc.2	protein_coding		CCDS64602.1			5175/13551									ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15	c.(5188-5190)TAC>TAT			Pfam_domain:PF08393,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF227	dynein, axonemal, heavy chain 11				ENSP00000475939		30/82	1.66E-05							9.03E-05	rs747361665,COSM3411924,COSM3411923	30/82	.	Kartagener_syndrome	ENST00000409508	Transcript	1		microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000105877	g.chr7:21698496C>T	2942			LOW								--	--	1																																			0,1,1				p.Y1730Y	NM_003777	NP_003768			0,1,1		DNAH11	HGNC	Q96DT5	DYH11_HUMAN			U3KQJ8_HUMAN,Q75MY1_HUMAN,Q75KM7_HUMAN,O95705_HUMAN,O43352_HUMAN,O15433_HUMAN,H9NAJ8_HUMAN,H9NAJ7_HUMAN		30	5221	+			UPI0002B8CE70	1730			Stem (By similarity).		SNV	DNAH11,synonymous_variant,p.=,ENST00000328843,;DNAH11,synonymous_variant,p.=,ENST00000409508,NM_001277115.1;	uc003svc.2	c.5190C>T	5206/14167	1	1			c.5190C>T						7	SNP	c.(5188-5190)TAC>TAT	14	14			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15	Broad	dynein, axonemal, heavy chain 11			21698496	Kartagener_syndrome	0.443	ENSG00000105877	4519	g.chr7:21698496C>T	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							20.385293	KEEP	4	5	-1	14	13	4	5	-1	21.86148	14	13	0.266667	1	0	0	0	0	0	0	1	0	--	--		0	T				39	GBM-06-0184-TP	p.Y1730Y	C	TAGTGGCCTACGAGGAAAAAC	NM_003777	NP_003768	21698496	Q96DT5	DYH11_HUMAN	0			30	5221	+	T	T			Silent	1730			Stem (By similarity).			
DNAH11	8701	broad.mit.edu	GRCh37	7	21639469	21639469	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0237-01	TCGA-06-0237-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328843.6:c.2732T>C	p.Ile911Thr	p.I911T	ENST00000328843		911	aTt/aCt	0			1			C	I/T	uc003svc.2	protein_coding		CCDS64602.1			2732/13551									ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15	c.(2731-2733)ATT>ACT			hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF227	dynein, axonemal, heavy chain 11				ENSP00000475939		15/82									COSM3411917,COSM3411916	15/82	.	Kartagener_syndrome	ENST00000409508	Transcript	1		microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000105877	g.chr7:21639469T>C	2942			MODERATE								--	--	1																																			1,1			benign(0.343)	p.I911T	NM_003777	NP_003768		deleterious(0.01)	1,1		DNAH11	HGNC	Q96DT5	DYH11_HUMAN			U3KQJ8_HUMAN,Q75MY1_HUMAN,Q75KM7_HUMAN,O95705_HUMAN,O43352_HUMAN,O15433_HUMAN,H9NAJ8_HUMAN,H9NAJ7_HUMAN		15	2763	+			UPI0002B8CE70	911			Stem (By similarity).		SNV	DNAH11,missense_variant,p.Ile911Thr,ENST00000328843,;DNAH11,missense_variant,p.Ile911Thr,ENST00000409508,NM_001277115.1;	uc003svc.2	c.2732T>C	2763/14167	3	3			c.2732T>C						7	SNP	c.(2731-2733)ATT>ACT	16	16			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15	Broad	dynein, axonemal, heavy chain 11			21639469	Kartagener_syndrome	0.373	ENSG00000105877	4519	g.chr7:21639469T>C	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							67.378644	KEEP	14	7	-1	27	18	14	7	-1	69.3805	27	18	0.3125	1	0	0	0	0	1	0	0	0	--	--		0	C				54	GBM-06-0237-TP	p.I911T	T	GTAGAATTCATTGACGACATT	NM_003777	NP_003768	21639469	Q96DT5	DYH11_HUMAN	0			15	2763	+	C	C			Missense_Mutation	911			Stem (By similarity).			
DNAH11	8701	broad.mit.edu	GRCh37	7	21784532	21784532	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5411-01	TCGA-06-5411-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328843.6:c.8382C>T	p.Cys2794=	p.C2794=	ENST00000328843		2794	tgC/tgT	0			1			T	C	uc003svc.2	protein_coding		CCDS64602.1			8361/13551									ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15	c.(8380-8382)TGC>TGT			hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF227	dynein, axonemal, heavy chain 11				ENSP00000475939		51/82									COSM3411926,COSM3411925	51/82	.	Kartagener_syndrome	ENST00000409508	Transcript	1		microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000105877	g.chr7:21784532C>T	2942			LOW								--	--	1																																			1,1				p.C2794C	NM_003777	NP_003768			1,1		DNAH11	HGNC	Q96DT5	DYH11_HUMAN			U3KQJ8_HUMAN,Q75MY1_HUMAN,Q75KM7_HUMAN,O95705_HUMAN,O43352_HUMAN,O15433_HUMAN,H9NAJ8_HUMAN,H9NAJ7_HUMAN		52	8413	+			UPI0002B8CE70	2794					SNV	DNAH11,synonymous_variant,p.=,ENST00000328843,;DNAH11,synonymous_variant,p.=,ENST00000409508,NM_001277115.1;DNAH11,synonymous_variant,p.=,ENST00000605912,;	uc003svc.2	c.8382C>T	8392/14167	2	2			c.8382C>T						7	SNP	c.(8380-8382)TGC>TGT	34	34			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15	Broad	dynein, axonemal, heavy chain 11			21784532	Kartagener_syndrome	0.448	ENSG00000105877	4519	g.chr7:21784532C>T	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							5.840818	KEEP	1	2	-1	7	7	1	2	-1	7.284898	7	7	0.1875	1	0	0	0	0	0	0	1	0	--	--		0	T				94	GBM-06-5411-TP	p.C2794C	C	TCATTTATTGCCACTTTGCTG	NM_003777	NP_003768	21784532	Q96DT5	DYH11_HUMAN	0			52	8413	+	T	T			Silent	2794						
DNAH11	0	broad.mit.edu	GRCh37	7	21640705	21640705	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409508.3:c.3333G>A	p.Val1111=	p.V1111=	ENST00000409508	NM_001277115.1	1111	gtG/gtA	0			1			A	V	uc003svc.2	protein_coding		CCDS64602.1			3333/13551									ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15	c.(3331-3333)GTG>GTA			hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF227	dynein, axonemal, heavy chain 11				ENSP00000475939		17/82									COSM3411919,COSM3411918	17/82	.	Kartagener_syndrome	ENST00000409508	Transcript	1		microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000105877	g.chr7:21640705G>A	2942			LOW								--	--	1																																			1,1				p.V1111V	NM_003777	NP_003768			1,1		DNAH11	HGNC	Q96DT5	DYH11_HUMAN			U3KQJ8_HUMAN,Q75MY1_HUMAN,Q75KM7_HUMAN,O95705_HUMAN,O43352_HUMAN,O15433_HUMAN,H9NAJ8_HUMAN,H9NAJ7_HUMAN		17	3364	+			UPI0002B8CE70	1111			Stem (By similarity).		SNV	DNAH11,synonymous_variant,p.=,ENST00000328843,;DNAH11,synonymous_variant,p.=,ENST00000409508,NM_001277115.1;	uc003svc.2	c.3333G>A	3364/14167	1	1			c.3333G>A						7	SNP	c.(3331-3333)GTG>GTA	49	49			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15	Broad	dynein, axonemal, heavy chain 11			21640705	Kartagener_syndrome	0.353	ENSG00000105877	4519	g.chr7:21640705G>A	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							98.942448	KEEP	15	23	-1	46	47	15	23	-1	104.292707	46	47	0.283465	1	0	0	0	0	0	0	1	0	--	--		0	A				142	GBM-14-1034-TP	p.V1111V	G	GGTTCAAGGTGGACATGAAGC	NM_003777	NP_003768	21640705	Q96DT5	DYH11_HUMAN	0			17	3364	+	A	A			Silent	1111			Stem (By similarity).			
DNAH11	0	broad.mit.edu	GRCh37	7	21939697	21939697	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01	TCGA-19-5950-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409508.3:c.13262C>T	p.Pro4421Leu	p.P4421L	ENST00000409508	NM_001277115.1	4421	cCg/cTg	0			1			T	P/L	uc003svc.2	protein_coding		CCDS64602.1			13262/13551									ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15	c.(13282-13284)CCG>CTG			Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF227	dynein, axonemal, heavy chain 11				ENSP00000475939		81/82	3.31E-05			0.000116		4.52E-05			rs780579730,COSM3411928,COSM3411927	81/82	.	Kartagener_syndrome	ENST00000409508	Transcript	1		microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000105877	g.chr7:21939697C>T	2942			MODERATE								--	--	1																																			0,1,1			possibly_damaging(0.793)	p.P4428L	NM_003777	NP_003768		deleterious(0)	0,1,1		DNAH11	HGNC	Q96DT5	DYH11_HUMAN			U3KQJ8_HUMAN,Q75MY1_HUMAN,Q75KM7_HUMAN,O95705_HUMAN,O43352_HUMAN,O15433_HUMAN,H9NAJ8_HUMAN,H9NAJ7_HUMAN		82	13314	+			UPI0002B8CE70	4428					SNV	DNAH11,missense_variant,p.Pro4428Leu,ENST00000328843,;DNAH11,missense_variant,p.Pro4421Leu,ENST00000409508,NM_001277115.1;CDCA7L,downstream_gene_variant,,ENST00000406877,NM_018719.4;CDCA7L,downstream_gene_variant,,ENST00000356195,NM_001127370.2;CDCA7L,downstream_gene_variant,,ENST00000373934,NM_001127371.2;CDCA7L,downstream_gene_variant,,ENST00000435717,;CDCA7L,downstream_gene_variant,,ENST00000465490,;DNAH11,non_coding_transcript_exon_variant,,ENST00000479878,;CDCA7L,downstream_gene_variant,,ENST00000488845,;CDCA7L,downstream_gene_variant,,ENST00000489669,;	uc003svc.2	c.13283C>T	13293/14167	2	2			c.13283C>T						7	SNP	c.(13282-13284)CCG>CTG	17	17			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15	Broad	dynein, axonemal, heavy chain 11			21939697	Kartagener_syndrome	0.488	ENSG00000105877	4519	g.chr7:21939697C>T	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							24.289628	KEEP	7	4	-1	25	32	7	4	-1	29.51596	25	32	0.189655	1	0	0	0	0	1	0	0	0	--	--		0	T				170	GBM-19-5950-TP	p.P4428L	C	TATGGACACCCGCCAAGGGAA	NM_003777	NP_003768	21939697	Q96DT5	DYH11_HUMAN	0			82	13314	+	T	T			Missense_Mutation	4428						
DNAH11	0	broad.mit.edu	GRCh37	7	21603893	21603893	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2528-01	TCGA-27-2528-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409508.3:c.1072C>T	p.Arg358Cys	p.R358C	ENST00000409508	NM_001277115.1	358	Cgc/Tgc	0			1			T	R/C	uc003svc.2	protein_coding		CCDS64602.1			1072/13551									ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15	c.(1072-1074)CGC>TGC			Pfam_domain:PF08385,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF227	dynein, axonemal, heavy chain 11				ENSP00000475939		Jun-82	2.48E-05					1.50E-05		0.000121	rs749125298,COSM3411911,COSM3411910	Jun-82	.	Kartagener_syndrome	ENST00000409508	Transcript	1		microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000105877	g.chr7:21603893C>T	2942			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=Q75KM7_HUMAN&rb=119&re=453&var=R241C	NA	getma.org/?cm=var&var=hg19,7,21603893,C,T&fts=all	R241C	--	--	1																																			0,1,1			benign(0.005)	p.R358C	NM_003777	NP_003768		deleterious(0.05)	0,1,1		DNAH11	HGNC	Q96DT5	DYH11_HUMAN			U3KQJ8_HUMAN,Q75MY1_HUMAN,Q75KM7_HUMAN,O95705_HUMAN,O43352_HUMAN,O15433_HUMAN,H9NAJ8_HUMAN,H9NAJ7_HUMAN		6	1103	+			UPI0002B8CE70	358			Stem (By similarity).		SNV	DNAH11,missense_variant,p.Arg358Cys,ENST00000328843,;DNAH11,missense_variant,p.Arg358Cys,ENST00000409508,NM_001277115.1;DNAH11,intron_variant,,ENST00000496218,;DNAH11,downstream_gene_variant,,ENST00000483691,;	uc003svc.2	c.1072C>T	1103/14167	2	2			c.1072C>T						7	SNP	c.(1072-1074)CGC>TGC	43	43			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15	Broad	dynein, axonemal, heavy chain 11			21603893	Kartagener_syndrome	0.443	ENSG00000105877	4519	g.chr7:21603893C>T	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							130.960712	KEEP	28	25	-1	62	95	28	25	-1	140.938876	62	95	0.260417	1	0	0	0	0	1	0	0	0	--	--		0	T				205	GBM-27-2528-TP	p.R358C	C	CCCACAGACACGCATATTAAT	NM_003777	NP_003768	21603893	Q96DT5	DYH11_HUMAN	0			6	1103	+	T	T			Missense_Mutation	358			Stem (By similarity).			
DNAH11	0	broad.mit.edu	GRCh37	7	21658736	21658736	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-1747-01	TCGA-28-1747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409508.3:c.4273G>A	p.Glu1425Lys	p.E1425K	ENST00000409508	NM_001277115.1	1425	Gaa/Aaa	0			1			A	E/K	uc003svc.2	protein_coding		CCDS64602.1			4273/13551									ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15	c.(4288-4290)GAA>AAA			Pfam_domain:PF08393,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF227	dynein, axonemal, heavy chain 11				ENSP00000475939		24/82									COSM3748367,COSM3748366	24/82	.	Kartagener_syndrome	ENST00000409508	Transcript	1		microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000105877	g.chr7:21658736G>A	2942			MODERATE								--	--	1																																			1,1			benign(0.05)	p.E1430K	NM_003777	NP_003768		tolerated(0.33)	1,1		DNAH11	HGNC	Q96DT5	DYH11_HUMAN			U3KQJ8_HUMAN,Q75MY1_HUMAN,Q75KM7_HUMAN,O95705_HUMAN,O43352_HUMAN,O15433_HUMAN,H9NAJ8_HUMAN,H9NAJ7_HUMAN		24	4319	+			UPI0002B8CE70	1430			Stem (By similarity).		SNV	DNAH11,missense_variant,p.Glu1430Lys,ENST00000328843,;DNAH11,missense_variant,p.Glu1425Lys,ENST00000409508,NM_001277115.1;DNAH11,non_coding_transcript_exon_variant,,ENST00000465593,;	uc003svc.2	c.4288G>A	4304/14167	1	1			c.4288G>A						7	SNP	c.(4288-4290)GAA>AAA	51	51			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15	Broad	dynein, axonemal, heavy chain 11			21658736	Kartagener_syndrome	0.418	ENSG00000105877	4519	g.chr7:21658736G>A	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							-10.039661	KEEP	11	4	-1	59	39	11	4	-1	6.998591	59	39	0.059524	1	0	0	0	0	1	0	0	0	--	--		0	A				206	GBM-28-1747-TP	p.E1430K	G	TTTAATAAATGAAGCCACAAC	NM_003777	NP_003768	21658736	Q96DT5	DYH11_HUMAN	0			24	4319	+	A	A			Missense_Mutation	1430			Stem (By similarity).			
DNAH11	0	broad.mit.edu	GRCh37	7	21611464	21611464	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409508.3:c.1466G>A	p.Arg489Lys	p.R489K	ENST00000409508	NM_001277115.1	489	aGa/aAa	0			1			A	R/K	uc003svc.2	protein_coding		CCDS64602.1			1466/13551									ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15	c.(1465-1467)AGA>AAA			Pfam_domain:PF08385,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF227	dynein, axonemal, heavy chain 11				ENSP00000475939		Aug-82									COSM3411915,COSM3411914	Aug-82	.	Kartagener_syndrome	ENST00000409508	Transcript	1		microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000105877	g.chr7:21611464G>A	2942			MODERATE		-0.835	neutral	getma.org/?cm=msa&ty=f&p=Q75KM7_HUMAN&rb=119&re=453&var=R372K	NA	getma.org/?cm=var&var=hg19,7,21611464,G,A&fts=all	R372K	--	--	1																																			1,1			benign(0.011)	p.R489K	NM_003777	NP_003768		tolerated(1)	1,1		DNAH11	HGNC	Q96DT5	DYH11_HUMAN			U3KQJ8_HUMAN,Q75MY1_HUMAN,Q75KM7_HUMAN,O95705_HUMAN,O43352_HUMAN,O15433_HUMAN,H9NAJ8_HUMAN,H9NAJ7_HUMAN		8	1497	+			UPI0002B8CE70	489			Stem (By similarity).		SNV	DNAH11,missense_variant,p.Arg489Lys,ENST00000328843,;DNAH11,missense_variant,p.Arg489Lys,ENST00000409508,NM_001277115.1;DNAH11,downstream_gene_variant,,ENST00000496218,;	uc003svc.2	c.1466G>A	1497/14167	1	1			c.1466G>A						7	SNP	c.(1465-1467)AGA>AAA	52	52			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15	Broad	dynein, axonemal, heavy chain 11			21611464	Kartagener_syndrome	0.353	ENSG00000105877	4519	g.chr7:21611464G>A	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							85.002885	KEEP	18	16	-1	37	53	18	16	-1	89.331562	37	53	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	A				265	GBM-76-4925-TP	p.R489K	G	AAGCTGGAAAGACTGGAATTT	NM_003777	NP_003768	21611464	Q96DT5	DYH11_HUMAN	0			8	1497	+	A	A			Missense_Mutation	489			Stem (By similarity).			
DNAH11	8701		GRCh37	7	21609750	21609750	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000328843.6:c.1258G>T	p.Val420Leu	p.V420L	ENST00000328843		420	Gtg/Ttg	0																																																																																																																																																																																																																																												
DNAH12	201625		GRCh37	3	57493504	57493504	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000311202.6:c.763G>T	p.Ala255Ser	p.A255S	ENST00000311202	NM_198564.3	255	Gca/Tca	0																																																																																																																																																																																																																																												
DNAH17	0	broad.mit.edu	GRCh37	17	76457727	76457727	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389840.5:c.9196G>A	p.Ala3066Thr	p.A3066T	ENST00000389840		3066	Gca/Aca	0			1			T	A/T	uc010dhp.1	protein_coding	YES				9196/13458									ovary(6)|breast(2)|skin(1)	9	c.(238-240)GCA>ACA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676,Pfam_domain:PF12777	SubName: Full=DNAH17 variant protein; Flags: Fragment;				ENSP00000374490		58/81	5.77E-05	0.00012	0.000355			3.63E-05		7.46E-05	rs557988732,COSM3403315,COSM3403314	58/81	.		ENST00000389840	Transcript						ENSG00000187775	g.chr17:76457727C>T	2946			MODERATE		1.375	low	getma.org/?cm=msa&ty=f&p=DYH17_HUMAN&rb=3029&re=3372&var=A3066T	getma.org/pdb.php?prot=DYH17_HUMAN&from=3029&to=3372&var=A3066T	getma.org/?cm=var&var=hg19,17,76457727,C,T&fts=all	A3066T	--	--	1																																		DNAH17_uc002jvs.2_RNA	0,1,1	1		benign(0.221)	p.A80T					0,1,1	DYH17_HUMAN	DNAH17	HGNC			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)				3	460	-			UPI0001A5EE11						SNV	DNAH17,missense_variant,p.Ala3066Thr,ENST00000389840,;DNAH17,missense_variant,p.Ala3075Thr,ENST00000585328,NM_173628.3;DNAH17,non_coding_transcript_exon_variant,,ENST00000586052,;DNAH17,upstream_gene_variant,,ENST00000592152,;DNAH17,missense_variant,p.Ala281Thr,ENST00000591369,;	uc010dhp.1	c.238G>A	9321/13792	1	1			c.238G>A						17	SNP	c.(238-240)GCA>ACA	16	16			ovary(6)|breast(2)|skin(1)	9	Broad	SubName: Full=DNAH17 variant protein; Flags: Fragment;			76457727		0.527	ENSG00000187775	4520	g.chr17:76457727C>T										53.709795	KEEP	13	6	-1	4	1	13	6	-1	55.025113	4	1	0.761905	1	0	0	0	0	1	0	0	0	--	--		0	T			DNAH17_uc002jvs.2_RNA	159	GBM-19-1390-TP	p.A80T	C	AGTTGGTCTGCGCTCTCATTC			76457727			0	BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		3	460	-	T	T			Missense_Mutation							
DNAH17	0	broad.mit.edu	GRCh37	17	76557880	76557880	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5950-01	TCGA-19-5950-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389840.5:c.1752C>T	p.Pro584=	p.P584=	ENST00000389840		584	ccC/ccT	0		A:0	1	A:0		A	P	uc002jvv.1	protein_coding	YES				1752/13458									ovary(6)|breast(2)|skin(1)	9	c.(856-858)CCC>CCT			hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676,Pfam_domain:PF08385	RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;		A:0.002		ENSP00000374490	A:0	Dec-81	6.59E-05			0.00082		1.53E-05			rs184174651,COSM3403320,COSM3403319	Dec-81	common_variant		ENST00000389840	Transcript		A:0.0004				ENSG00000187775	g.chr17:76557880G>A	2946			LOW								--	--	1																																			0,1,1	1			p.P286P			A:0		0,1,1	DYH17_HUMAN	DNAH17	HGNC			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)				8	964	-			UPI0001A5EE11						SNV	DNAH17,synonymous_variant,p.=,ENST00000389840,;DNAH17,synonymous_variant,p.=,ENST00000585328,NM_173628.3;DNAH17,non_coding_transcript_exon_variant,,ENST00000589793,;	uc002jvv.1	c.858C>T	1877/13792	2	2			c.858C>T						17	SNP	c.(856-858)CCC>CCT	33	33			ovary(6)|breast(2)|skin(1)	9	Broad	RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;			76557880		0.577	ENSG00000187775	4520	g.chr17:76557880G>A										5.712424	KEEP	2	1	-1	9	10	2	1	-1	8.291902	9	10	0.142857	1	0	0	0	0	0	0	1	0	--	--		0	A				170	GBM-19-5950-TP	p.P286P	G	GCCCGGCCACGGGAGGCATGT			76557880			0	BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		8	964	-	A	A			Silent							
DNAH17	0	broad.mit.edu	GRCh37	17	76502887	76502887	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01	TCGA-28-1753-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389840.5:c.4706C>T	p.Thr1569Met	p.T1569M	ENST00000389840		1569	aCg/aTg	0		A:0	1	A:0.0014		A	T/M	uc010wtu.1	protein_coding	YES				4706/13458									ovary(6)|breast(2)|skin(1)	9	c.(592-594)ACG>ATG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676,Pfam_domain:PF08393	full-length cDNA clone CS0DJ002YI14 of T cells (Jurkat cell line) Cot 10-normalized of Homo sapiens (human).		A:0		ENSP00000374490	A:0	30/81	6.62E-05	0.000102	0.000259		0.000151	1.50E-05		0.000121	rs555541435,COSM239602,COSM3403318	30/81	.		ENST00000389840	Transcript		A:0.0002				ENSG00000187775	g.chr17:76502887G>A	2946			MODERATE		3.21	medium	getma.org/?cm=msa&ty=f&p=DYH17_HUMAN&rb=1263&re=1676&var=T1569M	getma.org/pdb.php?prot=DYH17_HUMAN&from=1263&to=1676&var=T1569M	getma.org/?cm=var&var=hg19,17,76502887,G,A&fts=all	T1569M	--	--	1																																			0,1,1	1		possibly_damaging(0.527)	p.T198M			A:0		0,1,1	DYH17_HUMAN	DNAH17	HGNC			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)				4	770	-			UPI0001A5EE11						SNV	DNAH17,missense_variant,p.Thr1569Met,ENST00000389840,;DNAH17,missense_variant,p.Thr1570Met,ENST00000585328,NM_173628.3;DNAH17-AS1,downstream_gene_variant,,ENST00000598378,;DNAH17,non_coding_transcript_exon_variant,,ENST00000587177,;	uc010wtu.1	c.593C>T	4831/13792	1	1			c.593C>T						17	SNP	c.(592-594)ACG>ATG	55	55			ovary(6)|breast(2)|skin(1)	9	Broad	full-length cDNA clone CS0DJ002YI14 of T cells (Jurkat cell line) Cot 10-normalized of Homo sapiens (human).			76502887		0.557	ENSG00000187775	4520	g.chr17:76502887G>A										84.37816	KEEP	15	19	-1	44	50	15	19	-1	89.885377	44	50	0.269565	1	0	0	0	0	1	0	0	0	--	--		0	A				207	GBM-28-1753-TP	p.T198M	G	CAGTCTTTTCGTCTCTAAATA			76502887			0	BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		4	770	-	A	A			Missense_Mutation							
DNAH17	0	broad.mit.edu	GRCh37	17	76420172	76420172	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01	TCGA-41-2573-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389840.5:c.13273G>A	p.Ala4425Thr	p.A4425T	ENST00000389840		4425	Gcc/Acc	0			1			T	A/T	uc010dhp.1	protein_coding	YES				13273/13458									ovary(6)|breast(2)|skin(1)	9	c.(4204-4206)GCC>ACC			hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676,Pfam_domain:PF03028	SubName: Full=DNAH17 variant protein; Flags: Fragment;				ENSP00000374490		81/81									COSM244075,COSM3403311	81/81	.		ENST00000389840	Transcript						ENSG00000187775	g.chr17:76420172C>T	2946			MODERATE		0.625	neutral	getma.org/?cm=msa&ty=f&p=DYH17_HUMAN&rb=3744&re=4484&var=A4425T	getma.org/pdb.php?prot=DYH17_HUMAN&from=3744&to=4484&var=A4425T	getma.org/?cm=var&var=hg19,17,76420172,C,T&fts=all	A4425T	--	--	1																																		PGS1_uc002jvm.2_3'UTR|PGS1_uc010wtt.1_RNA|PGS1_uc010dho.2_RNA|PGS1_uc002jvn.2_3'UTR|PGS1_uc002jvo.2_RNA|DNAH17_uc002jvq.2_Missense_Mutation_p.A687T|DNAH17_uc002jvs.2_RNA	1,1	1		benign(0.014)	p.A1402T					1,1	DYH17_HUMAN	DNAH17	HGNC			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)				26	4426	-			UPI0001A5EE11						SNV	DNAH17,missense_variant,p.Ala4425Thr,ENST00000389840,;DNAH17,missense_variant,p.Ala4397Thr,ENST00000585328,NM_173628.3;PGS1,3_prime_UTR_variant,,ENST00000262764,NM_024419.3;PGS1,3_prime_UTR_variant,,ENST00000329897,;PGS1,downstream_gene_variant,,ENST00000586355,;PGS1,downstream_gene_variant,,ENST00000586019,;AC061992.1,upstream_gene_variant,,ENST00000600087,;DNAH17,non_coding_transcript_exon_variant,,ENST00000586052,;PGS1,non_coding_transcript_exon_variant,,ENST00000588281,;PGS1,non_coding_transcript_exon_variant,,ENST00000586880,;PGS1,downstream_gene_variant,,ENST00000585521,;DNAH17,downstream_gene_variant,,ENST00000586850,;DNAH17,downstream_gene_variant,,ENST00000592192,;DNAH17,3_prime_UTR_variant,,ENST00000591369,;PGS1,3_prime_UTR_variant,,ENST00000589426,;PGS1,3_prime_UTR_variant,,ENST00000589425,;PGS1,3_prime_UTR_variant,,ENST00000588169,;DNAH17,non_coding_transcript_exon_variant,,ENST00000590227,;PGS1,downstream_gene_variant,,ENST00000591996,;DNAH17,downstream_gene_variant,,ENST00000591647,;	uc010dhp.1	c.4204G>A	13398/13792	2	2			c.4204G>A						17	SNP	c.(4204-4206)GCC>ACC	20	20			ovary(6)|breast(2)|skin(1)	9	Broad	SubName: Full=DNAH17 variant protein; Flags: Fragment;			76420172		0.602	ENSG00000187775	4520	g.chr17:76420172C>T										-20.874207	KEEP	1	4	-1	58	61	1	4	-1	7.600901	58	61	0.033333	1	0	0	0	0	1	0	0	0	--	--		0	T			PGS1_uc002jvm.2_3'UTR|PGS1_uc010wtt.1_RNA|PGS1_uc010dho.2_RNA|PGS1_uc002jvn.2_3'UTR|PGS1_uc002jvo.2_RNA|DNAH17_uc002jvq.2_Missense_Mutation_p.A687T|DNAH17_uc002jvs.2_RNA	252	GBM-41-2573-TP	p.A1402T	C	ACAGGCATGGCCGGGGTCAGC			76420172			0	BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		26	4426	-	T	T			Missense_Mutation							
DNAH17	8632		GRCh37	17	76459049	76459049	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000389840.5:c.9009C>T	p.Pro3003=	p.P3003=	ENST00000389840		3003	ccC/ccT	0																																																																																																																																																																																																																																												
DNAH2	146754	broad.mit.edu	GRCh37	17	7674216	7674216	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0173-01	TCGA-06-0173-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000572933.1:c.4327A>T	p.Ile1443Phe	p.I1443F	ENST00000572933		1443	Att/Ttt	0			1			T	I/F	uc002giu.1	protein_coding		CCDS32551.1			4327/13284									ovary(6)|skin(6)|central_nervous_system(1)	13	c.(4327-4329)ATT>TTT			Pfam_domain:PF08393,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183	dynein heavy chain domain 3				ENSP00000373825		26/85									COSM3403325	26/85	.		ENST00000389173	Transcript			ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000183914	g.chr17:7674216A>T	2948			MODERATE		1.62	low	getma.org/?cm=msa&ty=f&p=DYH2_HUMAN&rb=1218&re=1633&var=I1443F	getma.org/pdb.php?prot=DYH2_HUMAN&from=1218&to=1633&var=I1443F	getma.org/?cm=var&var=hg19,17,7674216,A,T&fts=all	I1443F	--	--	1																																			1			benign(0.012)	p.I1443F	NM_020877	NP_065928			1	DYH2_HUMAN	DNAH2	HGNC	Q9P225	DYH2_HUMAN					26	4341	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	UPI00005B2F0D	1443			Stem (By similarity).		SNV	DNAH2,missense_variant,p.Ile1443Phe,ENST00000572933,;DNAH2,missense_variant,p.Ile1443Phe,ENST00000389173,NM_020877.2;DNAH2,3_prime_UTR_variant,,ENST00000574518,;	uc002giu.1	c.4327A>T	4341/13505	2	2			c.4327A>T						17	SNP	c.(4327-4329)ATT>TTT	34	34			ovary(6)|skin(6)|central_nervous_system(1)	13	Broad	dynein heavy chain domain 3			7674216		0.493	ENSG00000183914	4521	g.chr17:7674216A>T	ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							-17.232391	KEEP	5	6	-1	113	89	5	6	-1	21.993494	113	89	0.057592	1	0	0	0	0	1	0	0	0	--	--		0	T				36	GBM-06-0173-TP	p.I1443F	A	TATTGAGATGATTCTCACAGT	NM_020877	NP_065928	7674216	Q9P225	DYH2_HUMAN	0			26	4341	+	T	T		all_cancers(10;4.66e-07)|Prostate(122;0.081)	Missense_Mutation	1443			Stem (By similarity).			
DNAH2	146754	broad.mit.edu	GRCh37	17	7736507	7736507	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs145226741		TCGA-06-0648-01	TCGA-06-0648-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000572933.1:c.13097G>A	p.Arg4366Gln	p.R4366Q	ENST00000572933		4366	cGg/cAg	0	A:0.0007	A:0.0008	1	A:0		A	R/Q	uc002giu.1	protein_coding		CCDS32551.1			13097/13284									ovary(6)|skin(6)|central_nervous_system(1)	13	c.(13096-13098)CGG>CAG			Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183	dynein heavy chain domain 3		A:0	A:0	ENSP00000373825	A:0	84/85	4.12E-05	0.000293						0.000121	rs145226741,COSM3403333	84/85	.		ENST00000389173	Transcript		A:0.0002	ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000183914	g.chr17:7736507G>A	2948			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=DYH2_HUMAN&rb=3719&re=4424&var=R4366Q	getma.org/pdb.php?prot=DYH2_HUMAN&from=3719&to=4424&var=R4366Q	getma.org/?cm=var&var=hg19,17,7736507,G,A&fts=all	R4366Q	--	--	1																																			0,1			possibly_damaging(0.686)	p.R4366Q	NM_020877	NP_065928	A:0		0,1	DYH2_HUMAN	DNAH2	HGNC	Q9P225	DYH2_HUMAN					84	13111	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	UPI00005B2F0D	4366					SNV	DNAH2,missense_variant,p.Arg4366Gln,ENST00000572933,;DNAH2,missense_variant,p.Arg4366Gln,ENST00000389173,NM_020877.2;DNAH2,downstream_gene_variant,,ENST00000575105,;	uc002giu.1	c.13097G>A	13111/13505	1	1			c.13097G>A						17	SNP	c.(13096-13098)CGG>CAG	64	64			ovary(6)|skin(6)|central_nervous_system(1)	13	Broad	dynein heavy chain domain 3			7736507		0.622	ENSG00000183914	4521	g.chr17:7736507G>A	ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							9.172734	KEEP	4	7	-1	38	50	4	7	-1	20.415046	38	50	0.108108	1	0	0	0	0	1	0	0	0	--	--		0	A				61	GBM-06-0648-TP	p.R4366Q	G	ATCCACTTCCGGCCTGCAGAG	NM_020877	NP_065928	7736507	Q9P225	DYH2_HUMAN	0			84	13111	+	A	A		all_cancers(10;4.66e-07)|Prostate(122;0.081)	Missense_Mutation	4366						
DNAH2	146754	broad.mit.edu	GRCh37	17	7721011	7721011	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6390-01	TCGA-06-6390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000572933.1:c.10153G>A	p.Val3385Ile	p.V3385I	ENST00000572933		3385	Gtc/Atc	0			1			A	V/I	uc002giu.1	protein_coding		CCDS32551.1			10153/13284									ovary(6)|skin(6)|central_nervous_system(1)	13	c.(10153-10155)GTC>ATC			Pfam_domain:PF12781,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183	dynein heavy chain domain 3				ENSP00000373825		65/85	2.47E-05			0.000116		3.00E-05			rs758341170,COSM1494094	65/85	.		ENST00000389173	Transcript			ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000183914	g.chr17:7721011G>A	2948			MODERATE		1.95	medium	getma.org/?cm=msa&ty=f&p=DYH2_HUMAN&rb=3357&re=3587&var=V3385I	getma.org/pdb.php?prot=DYH2_HUMAN&from=3357&to=3587&var=V3385I	getma.org/?cm=var&var=hg19,17,7721011,G,A&fts=all	V3385I	--	--	1																																		DNAH2_uc010cnm.1_Missense_Mutation_p.V323I	0,1			possibly_damaging(0.591)	p.V3385I	NM_020877	NP_065928			0,1	DYH2_HUMAN	DNAH2	HGNC	Q9P225	DYH2_HUMAN					65	10167	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	UPI00005B2F0D	3385			AAA 5 (By similarity).		SNV	DNAH2,missense_variant,p.Val3385Ile,ENST00000572933,;DNAH2,missense_variant,p.Val3385Ile,ENST00000389173,NM_020877.2;DNAH2,missense_variant,p.Val334Ile,ENST00000575105,;	uc002giu.1	c.10153G>A	10167/13505	1	1			c.10153G>A						17	SNP	c.(10153-10155)GTC>ATC	62	62			ovary(6)|skin(6)|central_nervous_system(1)	13	Broad	dynein heavy chain domain 3			7721011		0.597	ENSG00000183914	4521	g.chr17:7721011G>A	ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							107.216942	KEEP	21	20	-1	35	42	21	20	-1	109.421227	35	42	0.348624	1	0	0	0	0	1	0	0	0	--	--		0	A			DNAH2_uc010cnm.1_Missense_Mutation_p.V323I	106	GBM-06-6390-TP	p.V3385I	G	TGGCATCATCGTCACCCGAGG	NM_020877	NP_065928	7721011	Q9P225	DYH2_HUMAN	0			65	10167	+	A	A		all_cancers(10;4.66e-07)|Prostate(122;0.081)	Missense_Mutation	3385			AAA 5 (By similarity).			
DNAH2	0	broad.mit.edu	GRCh37	17	7708677	7708677	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-26-1439-01	TCGA-26-1439-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389173.2:c.9408C>T	p.Asn3136=	p.N3136=	ENST00000389173	NM_020877.2	3136	aaC/aaT	0		T:0.0008	1	T:0		T	N	uc002giu.1	protein_coding		CCDS32551.1			9408/13284									ovary(6)|skin(6)|central_nervous_system(1)	13	c.(9406-9408)AAC>AAT			Pfam_domain:PF12777,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183	dynein heavy chain domain 3		T:0		ENSP00000373825	T:0	60/85	1.65E-05	9.61E-05						6.06E-05	rs200872109,COSM562527	60/85	.		ENST00000389173	Transcript		T:0.0002	ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000183914	g.chr17:7708677C>T	2948			LOW								--	--	1																																		DNAH2_uc010cnm.1_Silent_p.N74N	0,1				p.N3136N	NM_020877	NP_065928	T:0		0,1	DYH2_HUMAN	DNAH2	HGNC	Q9P225	DYH2_HUMAN					60	9422	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	UPI00005B2F0D	3136			Stalk (By similarity).		SNV	DNAH2,synonymous_variant,p.=,ENST00000572933,;DNAH2,synonymous_variant,p.=,ENST00000389173,NM_020877.2;DNAH2,synonymous_variant,p.=,ENST00000575105,;	uc002giu.1	c.9408C>T	9422/13505	2	2			c.9408C>T						17	SNP	c.(9406-9408)AAC>AAT	25	25			ovary(6)|skin(6)|central_nervous_system(1)	13	Broad	dynein heavy chain domain 3			7708677		0.403	ENSG00000183914	4521	g.chr17:7708677C>T	ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							149.200961	KEEP	29	30	-1	55	62	29	30	-1	152.578473	55	62	0.343949	1	0	0	0	0	0	0	1	0	--	--		0	T			DNAH2_uc010cnm.1_Silent_p.N74N	179	GBM-26-1439-TP	p.N3136N	C	TTCGAGGCAACGAGCCCACAT	NM_020877	NP_065928	7708677	Q9P225	DYH2_HUMAN	0			60	9422	+	T	T		all_cancers(10;4.66e-07)|Prostate(122;0.081)	Silent	3136			Stalk (By similarity).			
DNAH2	0	broad.mit.edu	GRCh37	17	7663139	7663139	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs112194246		TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389173.2:c.2668G>A	p.Ala890Thr	p.A890T	ENST00000389173	NM_020877.2	890	Gca/Aca	0			1			A	A/T	uc002giu.1	protein_coding		CCDS32551.1			2668/13284									ovary(6)|skin(6)|central_nervous_system(1)	13	c.(2668-2670)GCA>ACA			hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183	dynein heavy chain domain 3				ENSP00000373825		16/85									rs112194246,COSM3403321	16/85	.		ENST00000389173	Transcript			ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000183914	g.chr17:7663139G>A	2948			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=DYH2_HUMAN&rb=727&re=926&var=A890T	NA	getma.org/?cm=var&var=hg19,17,7663139,G,A&fts=all	A890T	--	--	1																																			0,1			benign(0.063)	p.A890T	NM_020877	NP_065928			0,1	DYH2_HUMAN	DNAH2	HGNC	Q9P225	DYH2_HUMAN					16	2682	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	UPI00005B2F0D	890			Stem (By similarity).		SNV	DNAH2,missense_variant,p.Ala890Thr,ENST00000572933,;DNAH2,missense_variant,p.Ala890Thr,ENST00000389173,NM_020877.2;RPL29P2,downstream_gene_variant,,ENST00000498671,;DNAH2,upstream_gene_variant,,ENST00000574518,;RPL29P2,downstream_gene_variant,,ENST00000488409,;	uc002giu.1	c.2668G>A	2682/13505	2	2			c.2668G>A						17	SNP	c.(2668-2670)GCA>ACA	18	18			ovary(6)|skin(6)|central_nervous_system(1)	13	Broad	dynein heavy chain domain 3			7663139		0.522	ENSG00000183914	4521	g.chr17:7663139G>A	ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							297.939408	KEEP	55	58	-1	136	137	55	58	-1	310.010411	136	137	0.305322	1	0	0	0	0	1	0	0	0	--	--		0	A				232	GBM-32-1982-TP	p.A890T	G	GCAGACTTTGGCAGGTGTGGT	NM_020877	NP_065928	7663139	Q9P225	DYH2_HUMAN	0			16	2682	+	A	A		all_cancers(10;4.66e-07)|Prostate(122;0.081)	Missense_Mutation	890			Stem (By similarity).			
DNAH2	0	broad.mit.edu	GRCh37	17	7640511	7640511	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4210-01	TCGA-32-4210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389173.2:c.1105C>T	p.Arg369Cys	p.R369C	ENST00000389173	NM_020877.2	369	Cgc/Tgc	0			1			T	R/C	uc002giu.1	protein_coding		CCDS32551.1			1105/13284									ovary(6)|skin(6)|central_nervous_system(1)	13	c.(1105-1107)CGC>TGC			Pfam_domain:PF08385,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183	dynein heavy chain domain 3				ENSP00000373825		Jul-85	1.65E-05					1.50E-05		6.06E-05	rs768754911,COSM3403308,COSM3403309	Jul-85	.		ENST00000389173	Transcript			ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000183914	g.chr17:7640511C>T	2948			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=DYH2_HUMAN&rb=238&re=394&var=R369C	NA	getma.org/?cm=var&var=hg19,17,7640511,C,T&fts=all	R369C	2.495	medium	1																																		DNAH2_uc002git.2_Missense_Mutation_p.R369C|DNAH2_uc010vuk.1_Missense_Mutation_p.R369C	0,1,1			benign(0.127)	p.R369C	NM_020877	NP_065928			0,1,1	DYH2_HUMAN	DNAH2	HGNC	Q9P225	DYH2_HUMAN					7	1119	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	UPI00005B2F0D	369			Stem (By similarity).		SNV	DNAH2,missense_variant,p.Arg369Cys,ENST00000572933,;DNAH2,missense_variant,p.Arg369Cys,ENST00000389173,NM_020877.2;DNAH2,missense_variant,p.Arg369Cys,ENST00000570791,;DNAH2,missense_variant,p.Arg369Cys,ENST00000082259,;DNAH2,upstream_gene_variant,,ENST00000575498,;	uc002giu.1	c.1105C>T	1119/13505	2	2			c.1105C>T						17	SNP	c.(1105-1107)CGC>TGC	30	30			ovary(6)|skin(6)|central_nervous_system(1)	13	Broad	dynein heavy chain domain 3			7640511		0.517	ENSG00000183914	4521	g.chr17:7640511C>T	ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							122.153633	KEEP	22	21	-1	30	37	22	21	-1	122.791593	30	37	0.414141	1	0	0	0	0	1	0	0	0	2.495	medium		0	T			DNAH2_uc002git.2_Missense_Mutation_p.R369C|DNAH2_uc010vuk.1_Missense_Mutation_p.R369C	245	GBM-32-4210-TP	p.R369C	C	CAGTCTCATCCGCATCATCTG	NM_020877	NP_065928	7640511	Q9P225	DYH2_HUMAN	0			7	1119	+	T	T		all_cancers(10;4.66e-07)|Prostate(122;0.081)	Missense_Mutation	369			Stem (By similarity).			
DNAH2	0	broad.mit.edu	GRCh37	17	7643075	7643075	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01	TCGA-32-4211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389173.2:c.1195G>A	p.Ala399Thr	p.A399T	ENST00000389173	NM_020877.2	399	Gcc/Acc	0			1			A	A/T	uc002giu.1	protein_coding		CCDS32551.1			1195/13284									ovary(6)|skin(6)|central_nervous_system(1)	13	c.(1195-1197)GCC>ACC			hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183	dynein heavy chain domain 3				ENSP00000373825		Aug-85									COSM3403312,COSM3403313	Aug-85	.		ENST00000389173	Transcript			ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000183914	g.chr17:7643075G>A	2948			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=DYH2_HUMAN&rb=397&re=726&var=A399T	NA	getma.org/?cm=var&var=hg19,17,7643075,G,A&fts=all	A399T	--	--	1																																		DNAH2_uc002git.2_Missense_Mutation_p.A481T|DNAH2_uc010vuk.1_Missense_Mutation_p.A399T	1,1			probably_damaging(0.993)	p.A399T	NM_020877	NP_065928			1,1	DYH2_HUMAN	DNAH2	HGNC	Q9P225	DYH2_HUMAN					8	1209	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	UPI00005B2F0D	399			Stem (By similarity).		SNV	DNAH2,missense_variant,p.Ala399Thr,ENST00000572933,;DNAH2,missense_variant,p.Ala399Thr,ENST00000389173,NM_020877.2;DNAH2,missense_variant,p.Ala481Thr,ENST00000570791,;DNAH2,missense_variant,p.Ala481Thr,ENST00000082259,;DNAH2,upstream_gene_variant,,ENST00000575498,;	uc002giu.1	c.1195G>A	1209/13505	2	2			c.1195G>A						17	SNP	c.(1195-1197)GCC>ACC	18	18			ovary(6)|skin(6)|central_nervous_system(1)	13	Broad	dynein heavy chain domain 3			7643075		0.488	ENSG00000183914	4521	g.chr17:7643075G>A	ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							22.269604	KEEP	9	5	-1	35	39	9	5	-1	30.289306	35	39	0.162162	1	0	0	0	0	1	0	0	0	--	--		0	A			DNAH2_uc002git.2_Missense_Mutation_p.A481T|DNAH2_uc010vuk.1_Missense_Mutation_p.A399T	246	GBM-32-4211-TP	p.A399T	G	GTATCACTTCGCCCGCTGGGA	NM_020877	NP_065928	7643075	Q9P225	DYH2_HUMAN	0			8	1209	+	A	A		all_cancers(10;4.66e-07)|Prostate(122;0.081)	Missense_Mutation	399			Stem (By similarity).			
DNAH2	146754		GRCh37	17	7668816	7668816	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000572933.1:c.3444C>T	p.Gly1148=	p.G1148=	ENST00000572933		1148	ggC/ggT	0																																																																																																																																																																																																																																												
DNAH2	146754		GRCh37	17	7644166	7644166	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000572933.1:c.1545del	p.Tyr516ThrfsTer11	p.Y516Tfs*11	ENST00000572933		515	ctC/ct	0																																																																																																																																																																																																																																												
DNAH2	146754		GRCh37	17	7643079	7643079	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000572933.1:c.1199G>A	p.Arg400His	p.R400H	ENST00000572933		400	cGc/cAc	0																																																																																																																																																																																																																																												
DNAH3	55567	broad.mit.edu	GRCh37	16	20994175	20994175	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0881-01	TCGA-06-0881-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261383.3:c.7727G>A	p.Arg2576His	p.R2576H	ENST00000261383	NM_017539.1	2576	cGc/cAc	0		T:0	1	T:0		T	R/H	uc010vbe.1	protein_coding	YES	CCDS10594.1			7727/12351									ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18	c.(7726-7728)CGC>CAC			Gene3D:3.40.50.300,Pfam_domain:PF12780,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF242,Superfamily_domains:SSF52540	dynein, axonemal, heavy chain 3		T:0		ENSP00000261383	T:0	49/62	3.29E-05							0.000242	rs544149586,COSM182845,COSM182846	49/62	.		ENST00000261383	Transcript		T:0.0002	ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	ENSG00000158486	g.chr16:20994175C>T	2949			MODERATE		2.96	medium	getma.org/?cm=msa&ty=f&p=DYH3_HUMAN&rb=2396&re=2665&var=R2576H	getma.org/pdb.php?prot=DYH3_HUMAN&from=2396&to=2665&var=R2576H	getma.org/?cm=var&var=hg19,16,20994175,C,T&fts=all	R2576H	--	--	1																																		DNAH3_uc010vbd.1_Missense_Mutation_p.R11H	0,1,1	1		possibly_damaging(0.449)	p.R2576H	NM_017539	NP_060009	T:0.001	deleterious(0.01)	0,1,1	DYH3_HUMAN	DNAH3	HGNC	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)			49	7727	-			UPI00001100F2	2576			AAA 4 (By similarity).		SNV	DNAH3,missense_variant,p.Arg2576His,ENST00000261383,NM_017539.1;DNAH3,3_prime_UTR_variant,,ENST00000415178,;	uc010vbe.1	c.7727G>A	7727/12394	2	2			c.7727G>A						16	SNP	c.(7726-7728)CGC>CAC	36	36			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18	Broad	dynein, axonemal, heavy chain 3			20994175		0.507	ENSG00000158486	4522	g.chr16:20994175C>T	ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity							-22.478179	KEEP	3	3	-1	92	73	3	3	-1	11.172509	92	73	0.040541	1	0	0	0	0	1	0	0	0	--	--		0	T			DNAH3_uc010vbd.1_Missense_Mutation_p.R11H	76	GBM-06-0881-TP	p.R2576H	C	CATCCGCAGGCGGTTCCTGAA	NM_017539	NP_060009	20994175	Q8TD57	DYH3_HUMAN	0		GBM - Glioblastoma multiforme(48;0.207)	49	7727	-	T	T			Missense_Mutation	2576			AAA 4 (By similarity).			
DNAH3	55567	broad.mit.edu	GRCh37	16	21145587	21145587	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-2561-01	TCGA-06-2561-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261383.3:c.1075T>C	p.Phe359Leu	p.F359L	ENST00000261383	NM_017539.1	359	Ttt/Ctt	0			1			G	F/L	uc010vbe.1	protein_coding	YES	CCDS10594.1			1075/12351									ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18	c.(1075-1077)TTT>CTT			hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF242	dynein, axonemal, heavy chain 3				ENSP00000261383		Jul-62									COSM2152728,COSM2152729	Jul-62	.		ENST00000261383	Transcript			ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	ENSG00000158486	g.chr16:21145587A>G	2949			MODERATE		1.545	low	getma.org/?cm=msa&ty=f&p=DYH3_HUMAN&rb=1&re=849&var=F359L	NA	getma.org/?cm=var&var=hg19,16,21145587,A,G&fts=all	F359L	--	--	1																																		DNAH3_uc002die.2_Missense_Mutation_p.F330L	1,1	1		benign(0.003)	p.F359L	NM_017539	NP_060009		tolerated(0.32)	1,1	DYH3_HUMAN	DNAH3	HGNC	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)			7	1075	-			UPI00001100F2	359			Stem (By similarity).		SNV	DNAH3,missense_variant,p.Phe359Leu,ENST00000261383,NM_017539.1;DNAH3,missense_variant,p.Phe359Leu,ENST00000415178,;CTC-508F8.1,downstream_gene_variant,,ENST00000575612,;DNAH3,non_coding_transcript_exon_variant,,ENST00000396036,;DNAH3,non_coding_transcript_exon_variant,,ENST00000575024,;	uc010vbe.1	c.1075T>C	1075/12394	3	3			c.1075T>C						16	SNP	c.(1075-1077)TTT>CTT	64	64			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18	Broad	dynein, axonemal, heavy chain 3			21145587		0.527	ENSG00000158486	4522	g.chr16:21145587A>G	ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity							152.489893	KEEP	39	18	-1	75	85	39	18	-1	162.749741	75	85	0.256545	1	0	0	0	0	1	0	0	0	--	--		0	G			DNAH3_uc002die.2_Missense_Mutation_p.F330L	84	GBM-06-2561-TP	p.F359L	A	TACTCTGCAAACCACAGTTCT	NM_017539	NP_060009	21145587	Q8TD57	DYH3_HUMAN	0		GBM - Glioblastoma multiforme(48;0.207)	7	1075	-	G	G			Missense_Mutation	359			Stem (By similarity).			
DNAH3	55567	broad.mit.edu	GRCh37	16	21080807	21080807	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01	TCGA-06-2562-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261383.3:c.3310G>A	p.Ala1104Thr	p.A1104T	ENST00000261383	NM_017539.1	1104	Gcc/Acc	0			1			T	A/T	uc010vbe.1	protein_coding	YES	CCDS10594.1			3310/12351									ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18	c.(3310-3312)GCC>ACC			Pfam_domain:PF08393,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF242	dynein, axonemal, heavy chain 3				ENSP00000261383		23/62									COSM2152760,COSM2152761	23/62	.		ENST00000261383	Transcript			ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	ENSG00000158486	g.chr16:21080807C>T	2949			MODERATE		2.135	medium	getma.org/?cm=msa&ty=f&p=DYH3_HUMAN&rb=861&re=1270&var=A1104T	getma.org/pdb.php?prot=DYH3_HUMAN&from=861&to=1270&var=A1104T	getma.org/?cm=var&var=hg19,16,21080807,C,T&fts=all	A1104T	--	--	1																																			1,1	1		probably_damaging(0.975)	p.A1104T	NM_017539	NP_060009		tolerated(0.14)	1,1	DYH3_HUMAN	DNAH3	HGNC	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)			23	3310	-			UPI00001100F2	1104			Stem (By similarity).		SNV	DNAH3,missense_variant,p.Ala1104Thr,ENST00000261383,NM_017539.1;DNAH3,missense_variant,p.Ala1104Thr,ENST00000415178,;	uc010vbe.1	c.3310G>A	3310/12394	2	2			c.3310G>A						16	SNP	c.(3310-3312)GCC>ACC	22	22			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18	Broad	dynein, axonemal, heavy chain 3			21080807		0.428	ENSG00000158486	4522	g.chr16:21080807C>T	ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity							282.712573	KEEP	49	56	-1	97	106	49	56	-1	289.060329	97	106	0.340426	1	0	0	0	0	1	0	0	0	--	--		0	T				85	GBM-06-2562-TP	p.A1104T	C	GGCATCTGGGCTATGATGTCC	NM_017539	NP_060009	21080807	Q8TD57	DYH3_HUMAN	0		GBM - Glioblastoma multiforme(48;0.207)	23	3310	-	T	T			Missense_Mutation	1104			Stem (By similarity).			
DNAH3	55567	broad.mit.edu	GRCh37	16	21033373	21033373	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01	TCGA-06-2563-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261383.3:c.5696G>A	p.Arg1899His	p.R1899H	ENST00000261383	NM_017539.1	1899	cGc/cAc	0			1			T	R/H	uc010vbe.1	protein_coding	YES	CCDS10594.1			5696/12351									ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18	c.(5695-5697)CGC>CAC			hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF242	dynein, axonemal, heavy chain 3				ENSP00000261383		40/62									COSM2152891,COSM2152892	40/62	.		ENST00000261383	Transcript			ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	ENSG00000158486	g.chr16:21033373C>T	2949			MODERATE		2.425	medium	getma.org/?cm=msa&ty=f&p=DYH3_HUMAN&rb=1822&re=2021&var=R1899H	getma.org/pdb.php?prot=DYH3_HUMAN&from=1822&to=2021&var=R1899H	getma.org/?cm=var&var=hg19,16,21033373,C,T&fts=all	R1899H	--	--	1																																			1,1	1		benign(0.002)	p.R1899H	NM_017539	NP_060009		tolerated(0.1)	1,1	DYH3_HUMAN	DNAH3	HGNC	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)			40	5696	-			UPI00001100F2	1899			AAA 2 (By similarity).		SNV	DNAH3,missense_variant,p.Arg1899His,ENST00000261383,NM_017539.1;DNAH3,intron_variant,,ENST00000415178,;DNAH3,non_coding_transcript_exon_variant,,ENST00000572640,;DNAH3,intron_variant,,ENST00000572931,;	uc010vbe.1	c.5696G>A	5696/12394	1	1			c.5696G>A						16	SNP	c.(5695-5697)CGC>CAC	1	1			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18	Broad	dynein, axonemal, heavy chain 3			21033373		0.458	ENSG00000158486	4522	g.chr16:21033373C>T	ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity							89.145809	KEEP	20	14	-1	13	20	20	14	-1	89.149407	13	20	0.491803	1	0	0	0	0	1	0	0	0	--	--		0	T				86	GBM-06-2563-TP	p.R1899H	C	ACAATGAAGGCGACCAAATTC	NM_017539	NP_060009	21033373	Q8TD57	DYH3_HUMAN	0		GBM - Glioblastoma multiforme(48;0.207)	40	5696	-	T	T			Missense_Mutation	1899			AAA 2 (By similarity).			
DNAH3	55567	broad.mit.edu	GRCh37	16	21080790	21080790	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6389-01	TCGA-06-6389-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261383.3:c.3327G>A	p.Glu1109=	p.E1109=	ENST00000261383	NM_017539.1	1109	gaG/gaA	0			1			T	E	uc010vbe.1	protein_coding	YES	CCDS10594.1			3327/12351									ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18	c.(3325-3327)GAG>GAA			Pfam_domain:PF08393,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF242	dynein, axonemal, heavy chain 3				ENSP00000261383		23/62										23/62	.		ENST00000261383	Transcript			ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	ENSG00000158486	g.chr16:21080790C>T	2949			LOW								--	--	1																																				1			p.E1109E	NM_017539	NP_060009				DYH3_HUMAN	DNAH3	HGNC	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)			23	3327	-			UPI00001100F2	1109			Stem (By similarity).		SNV	DNAH3,synonymous_variant,p.=,ENST00000261383,NM_017539.1;DNAH3,synonymous_variant,p.=,ENST00000415178,;	uc010vbe.1	c.3327G>A	3327/12394	2	2			c.3327G>A						16	SNP	c.(3325-3327)GAG>GAA	42	42			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18	Broad	dynein, axonemal, heavy chain 3			21080790		0.428	ENSG00000158486	4522	g.chr16:21080790C>T	ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity							39.780043	KEEP	8	10	-1	57	41	8	10	-1	50.500174	57	41	0.171429	1	0	0	0	0	0	0	1	0	--	--		0	T				105	GBM-06-6389-TP	p.E1109E	C	ATTTCCTCCCCTCTTCTGGCA	NM_017539	NP_060009	21080790	Q8TD57	DYH3_HUMAN	0		GBM - Glioblastoma multiforme(48;0.207)	23	3327	-	T	T			Silent	1109			Stem (By similarity).			
DNAH3	0	broad.mit.edu	GRCh37	16	20974846	20974846	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-12-0692-01	TCGA-12-0692-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261383.3:c.10360T>A	p.Trp3454Arg	p.W3454R	ENST00000261383	NM_017539.1	3454	Tgg/Agg	0			1			T	W/R	uc010vbe.1	protein_coding	YES	CCDS10594.1			10360/12351									ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18	c.(10360-10362)TGG>AGG			Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF242	dynein, axonemal, heavy chain 3				ENSP00000261383		53/62									COSM3402145,COSM3402144	53/62	.		ENST00000261383	Transcript			ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	ENSG00000158486	g.chr16:20974846A>T	2949			MODERATE		-1.995	neutral	getma.org/?cm=msa&ty=f&p=DYH3_HUMAN&rb=3403&re=4113&var=W3454R	getma.org/pdb.php?prot=DYH3_HUMAN&from=3403&to=4113&var=W3454R	getma.org/?cm=var&var=hg19,16,20974846,A,T&fts=all	W3454R	--	--	1																																		DNAH3_uc010vbd.1_Missense_Mutation_p.W889R	1,1	1		benign(0)	p.W3454R	NM_017539	NP_060009		tolerated(0.24)	1,1	DYH3_HUMAN	DNAH3	HGNC	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)			53	10360	-			UPI00001100F2	3454					SNV	DNAH3,missense_variant,p.Trp3454Arg,ENST00000261383,NM_017539.1;DNAH3,3_prime_UTR_variant,,ENST00000415178,;	uc010vbe.1	c.10360T>A	10360/12394	2	2			c.10360T>A						16	SNP	c.(10360-10362)TGG>AGG	21	21			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18	Broad	dynein, axonemal, heavy chain 3			20974846		0.532	ENSG00000158486	4522	g.chr16:20974846A>T	ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity							37.479471	KEEP	12	7	-1	49	50	12	7	-1	49.525162	49	50	0.162162	1	0	0	0	0	1	0	0	0	--	--		0	T			DNAH3_uc010vbd.1_Missense_Mutation_p.W889R	122	GBM-12-0692-TP	p.W3454R	A	TCATGGGGCCAGGCCGAGTCA	NM_017539	NP_060009	20974846	Q8TD57	DYH3_HUMAN	0		GBM - Glioblastoma multiforme(48;0.207)	53	10360	-	T	T			Missense_Mutation	3454						
DNAH3	0	broad.mit.edu	GRCh37	16	21145656	21145656	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01	TCGA-19-2623-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261383.3:c.1006G>A	p.Ala336Thr	p.A336T	ENST00000261383	NM_017539.1	336	Gcc/Acc	0			1			T	A/T	uc010vbe.1	protein_coding	YES	CCDS10594.1			1006/12351									ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18	c.(1006-1008)GCC>ACC			hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF242	dynein, axonemal, heavy chain 3				ENSP00000261383		Jul-62	4.94E-05	0.000288	0.000173			1.50E-05			rs759618940,COSM3402157,COSM3402156	Jul-62	.		ENST00000261383	Transcript			ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	ENSG00000158486	g.chr16:21145656C>T	2949			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=DYH3_HUMAN&rb=1&re=849&var=A336T	NA	getma.org/?cm=var&var=hg19,16,21145656,C,T&fts=all	A336T	--	--	1																																		DNAH3_uc002die.2_Missense_Mutation_p.A307T	0,1,1	1		benign(0.017)	p.A336T	NM_017539	NP_060009		tolerated(0.1)	0,1,1	DYH3_HUMAN	DNAH3	HGNC	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)			7	1006	-			UPI00001100F2	336			Stem (By similarity).		SNV	DNAH3,missense_variant,p.Ala336Thr,ENST00000261383,NM_017539.1;DNAH3,missense_variant,p.Ala336Thr,ENST00000415178,;CTC-508F8.1,downstream_gene_variant,,ENST00000575612,;DNAH3,non_coding_transcript_exon_variant,,ENST00000396036,;DNAH3,non_coding_transcript_exon_variant,,ENST00000575024,;	uc010vbe.1	c.1006G>A	1006/12394	1	1			c.1006G>A						16	SNP	c.(1006-1008)GCC>ACC	7	7			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18	Broad	dynein, axonemal, heavy chain 3			21145656		0.527	ENSG00000158486	4522	g.chr16:21145656C>T	ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity							219.90807	KEEP	47	43	-1	100	84	47	43	-1	226.771673	100	84	0.324	1	0	0	0	0	1	0	0	0	--	--		0	T			DNAH3_uc002die.2_Missense_Mutation_p.A307T	163	GBM-19-2623-TP	p.A336T	C	CACTTCTTGGCGCTCCTGTAG	NM_017539	NP_060009	21145656	Q8TD57	DYH3_HUMAN	0		GBM - Glioblastoma multiforme(48;0.207)	7	1006	-	T	T			Missense_Mutation	336			Stem (By similarity).			
DNAH3	0	broad.mit.edu	GRCh37	16	21156695	21156695	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-27-2518-01	TCGA-27-2518-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261383.3:c.255G>C	p.Leu85Phe	p.L85F	ENST00000261383	NM_017539.1	85	ttG/ttC	0			1			G	L/F	uc010vbe.1	protein_coding	YES	CCDS10594.1			255/12351									ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18	c.(253-255)TTG>TTC				dynein, axonemal, heavy chain 3				ENSP00000261383		Mar-62									COSM3402159,COSM3402158	Mar-62	.		ENST00000261383	Transcript			ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	ENSG00000158486	g.chr16:21156695C>G	2949			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=DYH3_HUMAN&rb=1&re=849&var=L85F	NA	getma.org/?cm=var&var=hg19,16,21156695,C,G&fts=all	L85F	--	--	1																																		DNAH3_uc002die.2_Missense_Mutation_p.L56F	1,1	1		possibly_damaging(0.638)	p.L85F	NM_017539	NP_060009		deleterious_low_confidence(0)	1,1	DYH3_HUMAN	DNAH3	HGNC	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)			3	255	-			UPI00001100F2	85			Stem (By similarity).		SNV	DNAH3,missense_variant,p.Leu85Phe,ENST00000261383,NM_017539.1;DNAH3,missense_variant,p.Leu85Phe,ENST00000415178,;DNAH3,non_coding_transcript_exon_variant,,ENST00000575491,;DNAH3,non_coding_transcript_exon_variant,,ENST00000396036,;	uc010vbe.1	c.255G>C	255/12394	3	3			c.255G>C						16	SNP	c.(253-255)TTG>TTC	49	49			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18	Broad	dynein, axonemal, heavy chain 3			21156695		0.527	ENSG00000158486	4522	g.chr16:21156695C>G	ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity							-3.622946	KEEP	3	1	-1	37	29	3	1	-1	7.601328	37	29	0.055556	1	0	0	0	0	1	0	0	0	--	--		0	G			DNAH3_uc002die.2_Missense_Mutation_p.L56F	198	GBM-27-2518-TP	p.L85F	C	TGCGTTGCATCAAGGGCGGGT	NM_017539	NP_060009	21156695	Q8TD57	DYH3_HUMAN	0		GBM - Glioblastoma multiforme(48;0.207)	3	255	-	G	G			Missense_Mutation	85			Stem (By similarity).			
DNAH3	0	broad.mit.edu	GRCh37	16	21128600	21128600	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261383.3:c.1738G>A	p.Ala580Thr	p.A580T	ENST00000261383	NM_017539.1	580	Gca/Aca	0	T:0.0009	T:0.0015	1	T:0		T	A/T	uc010vbe.1	protein_coding	YES	CCDS10594.1			1738/12351									ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18	c.(1738-1740)GCA>ACA			hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF242	dynein, axonemal, heavy chain 3		T:0	T:0	ENSP00000261383	T:0	Dec-62	8.24E-05	0.000907				1.53E-05			rs181679050,COSM3402155,COSM3402154	Dec-62	common_variant		ENST00000261383	Transcript		T:0.0004	ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	ENSG00000158486	g.chr16:21128600C>T	2949			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=DYH3_HUMAN&rb=1&re=849&var=A580T	NA	getma.org/?cm=var&var=hg19,16,21128600,C,T&fts=all	A580T	--	--	1																																		DNAH3_uc002die.2_Missense_Mutation_p.A520T	0,1,1	1		benign(0.001)	p.A580T	NM_017539	NP_060009	T:0	tolerated(0.68)	0,1,1	DYH3_HUMAN	DNAH3	HGNC	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)			12	1738	-			UPI00001100F2	580			Stem (By similarity).		SNV	DNAH3,missense_variant,p.Ala580Thr,ENST00000261383,NM_017539.1;DNAH3,missense_variant,p.Ala580Thr,ENST00000415178,;CTC-508F8.1,upstream_gene_variant,,ENST00000575612,;DNAH3,non_coding_transcript_exon_variant,,ENST00000396036,;	uc010vbe.1	c.1738G>A	1738/12394	2	2			c.1738G>A						16	SNP	c.(1738-1740)GCA>ACA	36	36			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18	Broad	dynein, axonemal, heavy chain 3			21128600		0.358	ENSG00000158486	4522	g.chr16:21128600C>T	ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity							-12.175148	KEEP	4	4	-1	58	77	4	4	-1	13.463313	58	77	0.056452	1	0	0	0	0	1	0	0	0	--	--		0	T			DNAH3_uc002die.2_Missense_Mutation_p.A520T	218	GBM-28-5209-TP	p.A580T	C	TTTTCTTCTGCGTTAACAGTT	NM_017539	NP_060009	21128600	Q8TD57	DYH3_HUMAN	0		GBM - Glioblastoma multiforme(48;0.207)	12	1738	-	T	T			Missense_Mutation	580			Stem (By similarity).			
DNAH3	0	broad.mit.edu	GRCh37	16	21045351	21045351	+	synonymous_variant	Silent	SNP	G	G	A	rs143127393	by1000genomes	TCGA-32-1977-01	TCGA-32-1977-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261383.3:c.5142C>T	p.Gly1714=	p.G1714=	ENST00000261383	NM_017539.1	1714	ggC/ggT	0	A:0	A:0	1	A:0.0014		A	G	uc010vbe.1	protein_coding	YES	CCDS10594.1			5142/12351									ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18	c.(5140-5142)GGC>GGT			Gene3D:3.40.50.300,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF242,Superfamily_domains:SSF52540	dynein, axonemal, heavy chain 3		A:0.001	A:0.0001	ENSP00000261383	A:0	36/62	4.12E-05	9.64E-05	8.70E-05	0.000231				6.09E-05	rs143127393,COSM3402151,COSM3402150	36/62	.		ENST00000261383	Transcript		A:0.0004	ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	ENSG00000158486	g.chr16:21045351G>A	2949			LOW								--	--	1																																			0,1,1	1			p.G1714G	NM_017539	NP_060009	A:0		0,1,1	DYH3_HUMAN	DNAH3	HGNC	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)			36	5142	-			UPI00001100F2	1714			ATP (Potential).|AAA 2 (By similarity).		SNV	DNAH3,synonymous_variant,p.=,ENST00000261383,NM_017539.1;DNAH3,synonymous_variant,p.=,ENST00000415178,;DNAH3,non_coding_transcript_exon_variant,,ENST00000572640,;DNAH3,non_coding_transcript_exon_variant,,ENST00000572931,;	uc010vbe.1	c.5142C>T	5142/12394	1	1			c.5142C>T						16	SNP	c.(5140-5142)GGC>GGT	57	57			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18	Broad	dynein, axonemal, heavy chain 3			21045351		0.498	ENSG00000158486	4522	g.chr16:21045351G>A	ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity							59.065915	KEEP	9	22	-1	40	47	9	22	-1	63.82409	40	47	0.26087	1	0	0	0	0	0	0	1	0	--	--		0	A				229	GBM-32-1977-TP	p.G1714G	G	AGGTCTTGCCGCCCATGGGGT	NM_017539	NP_060009	21045351	Q8TD57	DYH3_HUMAN	0		GBM - Glioblastoma multiforme(48;0.207)	36	5142	-	A	A			Silent	1714			ATP (Potential).|AAA 2 (By similarity).			
DNAH3	0	broad.mit.edu	GRCh37	16	20952865	20952865	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01	TCGA-32-2495-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261383.3:c.11512G>A	p.Glu3838Lys	p.E3838K	ENST00000261383	NM_017539.1	3838	Gaa/Aaa	0			1			T	E/K	uc010vbe.1	protein_coding	YES	CCDS10594.1			11512/12351									ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18	c.(11512-11514)GAA>AAA			Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF242	dynein, axonemal, heavy chain 3				ENSP00000261383		59/62									COSM3402143,COSM3402142	59/62	.		ENST00000261383	Transcript			ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	ENSG00000158486	g.chr16:20952865C>T	2949			MODERATE		2.16	medium	getma.org/?cm=msa&ty=f&p=DYH3_HUMAN&rb=3403&re=4113&var=E3838K	getma.org/pdb.php?prot=DYH3_HUMAN&from=3403&to=4113&var=E3838K	getma.org/?cm=var&var=hg19,16,20952865,C,T&fts=all	E3838K	4.66	high	1																																		DNAH3_uc010vbd.1_Missense_Mutation_p.E1273K	1,1	1		benign(0.16)	p.E3838K	NM_017539	NP_060009		deleterious(0.04)	1,1	DYH3_HUMAN	DNAH3	HGNC	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)			59	11512	-			UPI00001100F2	3838					SNV	DNAH3,missense_variant,p.Glu3838Lys,ENST00000261383,NM_017539.1;DNAH3,splice_region_variant,,ENST00000415178,;	uc010vbe.1	c.11512G>A	11512/12394	2	2			c.11512G>A						16	SNP	c.(11512-11514)GAA>AAA	30	30			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18	Broad	dynein, axonemal, heavy chain 3			20952865		0.453	ENSG00000158486	4522	g.chr16:20952865C>T	ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity							-32.619396	KEEP	1	6	-1	99	101	1	6	-1	11.007103	99	101	0.032787	1	0	0	0	0	1	0	0	0	4.66	high		0	T			DNAH3_uc010vbd.1_Missense_Mutation_p.E1273K	237	GBM-32-2495-TP	p.E3838K	C	TCAACCACTTCCTTAAAATGC	NM_017539	NP_060009	20952865	Q8TD57	DYH3_HUMAN	0		GBM - Glioblastoma multiforme(48;0.207)	59	11512	-	T	T			Missense_Mutation	3838						
DNAH3	55567		GRCh37	16	20976074	20976074	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000261383.3:c.9132G>A	p.Thr3044=	p.T3044=	ENST00000261383	NM_017539.1	3044	acG/acA	0																																																																																																																																																																																																																																												
DNAH3	55567		GRCh37	16	20999316	20999316	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000261383.3:c.6673A>T	p.Ser2225Cys	p.S2225C	ENST00000261383	NM_017539.1	2225	Agt/Tgt	0																																																																																																																																																																																																																																												
DNAH5	1767	broad.mit.edu	GRCh37	5	13727709	13727709	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-02-0003-01	TCGA-02-0003-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265104.4:c.11940G>A	p.Glu3980=	p.E3980=	ENST00000265104	NM_001369.2	3980	gaG/gaA	0	T:0.0002		1			T	E	uc003jfd.2	protein_coding	YES	CCDS3882.1			11940/13875									ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	c.(11938-11940)GAG>GAA			Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	dynein, axonemal, heavy chain 5			T:0	ENSP00000265104		70/79	1.65E-05	0.000193							rs377018163,COSM2148893	70/79	.	Kartagener_syndrome	ENST00000265104	Transcript	1		microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000039139	g.chr5:13727709C>T	2950			LOW								--	--	1																																		DNAH5_uc003jfc.2_Silent_p.E148E	0,1	1			p.E3980E	NM_001369	NP_001360			0,1	DYH5_HUMAN	DNAH5	HGNC	Q8TE73	DYH5_HUMAN			O95496_HUMAN		70	11982	-	Lung NSC(4;0.00476)		UPI0000110101	3980					SNV	DNAH5,synonymous_variant,p.=,ENST00000265104,NM_001369.2;	uc003jfd.2	c.11940G>A	12045/15633	2	2			c.11940G>A						5	SNP	c.(11938-11940)GAG>GAA	47	47			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Broad	dynein, axonemal, heavy chain 5			13727709	Kartagener_syndrome	0.413	ENSG00000039139	4523	g.chr5:13727709C>T	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							115.580537	KEEP	17	20	-1	26	34	17	20	-1	116.44878	26	34	0.395604	1	0	0	0	0	0	0	1	0	--	--		0	T			DNAH5_uc003jfc.2_Silent_p.E148E	1	GBM-02-0003-TP	p.E3980E	C	GAAGAGGTTCCTCCTCCGGGT	NM_001369	NP_001360	13727709	Q8TE73	DYH5_HUMAN	0			70	11982	-	T	T	Lung NSC(4;0.00476)		Silent	3980						
DNAH5	1767	broad.mit.edu	GRCh37	5	13916467	13916467	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0126-01	TCGA-06-0126-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265104.4:c.1187T>C	p.Leu396Pro	p.L396P	ENST00000265104	NM_001369.2	396	cTg/cCg	0			1			G	L/P	uc003jfd.2	protein_coding	YES	CCDS3882.1			1187/13875									ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	c.(1186-1188)CTG>CCG			Pfam_domain:PF08385,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	dynein, axonemal, heavy chain 5				ENSP00000265104		Sep-79									COSM2149413	Sep-79	.	Kartagener_syndrome	ENST00000265104	Transcript	1		microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000039139	g.chr5:13916467A>G	2950			MODERATE		3.32	medium	getma.org/?cm=msa&ty=f&p=DYH5_HUMAN&rb=246&re=804&var=L396P	NA	getma.org/?cm=var&var=hg19,5,13916467,A,G&fts=all	L396P	--	--	1																																		DNAH5_uc003jfe.1_RNA	1	1		probably_damaging(0.928)	p.L396P	NM_001369	NP_001360			1	DYH5_HUMAN	DNAH5	HGNC	Q8TE73	DYH5_HUMAN			O95496_HUMAN		9	1229	-	Lung NSC(4;0.00476)		UPI0000110101	396			Stem (By similarity).		SNV	DNAH5,missense_variant,p.Leu396Pro,ENST00000265104,NM_001369.2;DNAH5,non_coding_transcript_exon_variant,,ENST00000508040,;	uc003jfd.2	c.1187T>C	1292/15633	3	3			c.1187T>C						5	SNP	c.(1186-1188)CTG>CCG	60	60			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Broad	dynein, axonemal, heavy chain 5			13916467	Kartagener_syndrome	0.323	ENSG00000039139	4523	g.chr5:13916467A>G	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							104.308544	KEEP	16	21	-1	36	24	16	21	-1	105.195278	36	24	0.393258	1	0	0	0	0	1	0	0	0	--	--		0	G			DNAH5_uc003jfe.1_RNA	13	GBM-06-0126-TP	p.L396P	A	CTTTACAAACAGAGATGTGAT	NM_001369	NP_001360	13916467	Q8TE73	DYH5_HUMAN	0			9	1229	-	G	G	Lung NSC(4;0.00476)		Missense_Mutation	396			Stem (By similarity).			
DNAH5	1767	broad.mit.edu	GRCh37	5	13865969	13865969	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0190-01	TCGA-06-0190-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265104.4:c.4163G>A	p.Gly1388Glu	p.G1388E	ENST00000265104	NM_001369.2	1388	gGa/gAa	0			1			T	G/E	uc003jfd.2	protein_coding	YES	CCDS3882.1			4163/13875									ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	c.(4162-4164)GGA>GAA			hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	dynein, axonemal, heavy chain 5				ENSP00000265104		27/79									COSM3409771	27/79	.	Kartagener_syndrome	ENST00000265104	Transcript	1		microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000039139	g.chr5:13865969C>T	2950			MODERATE		3.53	high	getma.org/?cm=msa&ty=f&p=DYH5_HUMAN&rb=1205&re=1399&var=G1388E	NA	getma.org/?cm=var&var=hg19,5,13865969,C,T&fts=all	G1388E	--	--	1																																			1	1		probably_damaging(0.931)	p.G1388E	NM_001369	NP_001360			1	DYH5_HUMAN	DNAH5	HGNC	Q8TE73	DYH5_HUMAN			O95496_HUMAN		27	4205	-	Lung NSC(4;0.00476)		UPI0000110101	1388			Stem (By similarity).		SNV	DNAH5,missense_variant,p.Gly1388Glu,ENST00000265104,NM_001369.2;CTB-51A17.1,intron_variant,,ENST00000503244,;	uc003jfd.2	c.4163G>A	4268/15633	2	2			c.4163G>A						5	SNP	c.(4162-4164)GGA>GAA	33	33			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Broad	dynein, axonemal, heavy chain 5			13865969	Kartagener_syndrome	0.328	ENSG00000039139	4523	g.chr5:13865969C>T	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							-15.859213	KEEP	3	7	-1	98	88	3	7	-1	20.014284	98	88	0.052941	1	0	0	0	0	1	0	0	0	--	--		0	T				43	GBM-06-0190-TP	p.G1388E	C	AAGCTCCTCTCCTCCAGTATA	NM_001369	NP_001360	13865969	Q8TE73	DYH5_HUMAN	0			27	4205	-	T	T	Lung NSC(4;0.00476)		Missense_Mutation	1388			Stem (By similarity).			
DNAH5	1767	broad.mit.edu	GRCh37	5	13735337	13735337	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0875-01	TCGA-06-0875-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265104.4:c.11664C>T	p.Tyr3888=	p.Y3888=	ENST00000265104	NM_001369.2	3888	taC/taT	0			1			A	Y	uc003jfd.2	protein_coding	YES	CCDS3882.1			11664/13875									ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	c.(11662-11664)TAC>TAT			hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	dynein, axonemal, heavy chain 5				ENSP00000265104		68/79	8.24E-06			0.000116					rs754874486,COSM2152051	68/79	.	Kartagener_syndrome	ENST00000265104	Transcript	1		microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000039139	g.chr5:13735337G>A	2950			LOW								--	--	1																																		DNAH5_uc003jfc.2_Silent_p.Y56Y	0,1	1			p.Y3888Y	NM_001369	NP_001360			0,1	DYH5_HUMAN	DNAH5	HGNC	Q8TE73	DYH5_HUMAN			O95496_HUMAN		68	11706	-	Lung NSC(4;0.00476)		UPI0000110101	3888					SNV	DNAH5,synonymous_variant,p.=,ENST00000265104,NM_001369.2;	uc003jfd.2	c.11664C>T	11769/15633	1	1			c.11664C>T						5	SNP	c.(11662-11664)TAC>TAT	52	52			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Broad	dynein, axonemal, heavy chain 5			13735337	Kartagener_syndrome	0.458	ENSG00000039139	4523	g.chr5:13735337G>A	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							161.253689	KEEP	36	19	-1	43	34	36	19	-1	161.883792	43	34	0.424	1	0	0	0	0	0	0	1	0	--	--		0	A			DNAH5_uc003jfc.2_Silent_p.Y56Y	71	GBM-06-0875-TP	p.Y3888Y	G	TGTGCTCCTCGTACAGCCCTC	NM_001369	NP_001360	13735337	Q8TE73	DYH5_HUMAN	0			68	11706	-	A	A	Lung NSC(4;0.00476)		Silent	3888						
DNAH5	1767	broad.mit.edu	GRCh37	5	13762882	13762882	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5859-01	TCGA-06-5859-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265104.4:c.10230G>A	p.Thr3410=	p.T3410=	ENST00000265104	NM_001369.2	3410	acG/acA	0			1			T	T	uc003jfd.2	protein_coding	YES	CCDS3882.1			10230/13875									ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	c.(10228-10230)ACG>ACA			Pfam_domain:PF12777,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	dynein, axonemal, heavy chain 5				ENSP00000265104		60/79	2.47E-05		8.65E-05			3.00E-05			rs765000004,COSM2153405	60/79	.	Kartagener_syndrome	ENST00000265104	Transcript	1		microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000039139	g.chr5:13762882C>T	2950			LOW								--	--	1																																		DNAH5_uc003jfc.2_5'UTR	0,1	1			p.T3410T	NM_001369	NP_001360			0,1	DYH5_HUMAN	DNAH5	HGNC	Q8TE73	DYH5_HUMAN			O95496_HUMAN		60	10272	-	Lung NSC(4;0.00476)		UPI0000110101	3410			Stalk (By similarity).		SNV	DNAH5,synonymous_variant,p.=,ENST00000265104,NM_001369.2;DNAH5,non_coding_transcript_exon_variant,,ENST00000504001,;	uc003jfd.2	c.10230G>A	10335/15633	1	1			c.10230G>A						5	SNP	c.(10228-10230)ACG>ACA	6	6			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Broad	dynein, axonemal, heavy chain 5			13762882	Kartagener_syndrome	0.453	ENSG00000039139	4523	g.chr5:13762882C>T	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							92.34728	KEEP	11	20	-1	21	24	11	20	-1	92.550964	21	24	0.441176	1	0	0	0	0	0	0	1	0	--	--		0	T			DNAH5_uc003jfc.2_5'UTR	103	GBM-06-5859-TP	p.T3410T	C	CCATAGCTTTCGTCCAGGAAC	NM_001369	NP_001360	13762882	Q8TE73	DYH5_HUMAN	0			60	10272	-	T	T	Lung NSC(4;0.00476)		Silent	3410			Stalk (By similarity).			
DNAH5	0	broad.mit.edu	GRCh37	5	13871097	13871097	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01	TCGA-06-6391-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265104.4:c.3613G>A	p.Ala1205Thr	p.A1205T	ENST00000265104	NM_001369.2	1205	Gcc/Acc	0			1			T	A/T	uc003jfd.2	protein_coding	YES	CCDS3882.1			3613/13875									ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	c.(3613-3615)GCC>ACC			hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	dynein, axonemal, heavy chain 5				ENSP00000265104		24/79	4.12E-05		0.00035			1.51E-05			rs767655417	24/79	.	Kartagener_syndrome	ENST00000265104	Transcript	1		microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000039139	g.chr5:13871097C>T	2950			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=DYH5_HUMAN&rb=1205&re=1399&var=A1205T	NA	getma.org/?cm=var&var=hg19,5,13871097,C,T&fts=all	A1205T	--	--	1																																				1		possibly_damaging(0.499)	p.A1205T	NM_001369	NP_001360				DYH5_HUMAN	DNAH5	HGNC	Q8TE73	DYH5_HUMAN			O95496_HUMAN		24	3655	-	Lung NSC(4;0.00476)		UPI0000110101	1205			Stem (By similarity).		SNV	DNAH5,missense_variant,p.Ala1205Thr,ENST00000265104,NM_001369.2;CTB-51A17.1,intron_variant,,ENST00000503244,;	uc003jfd.2	c.3613G>A	3718/15633	1	1			c.3613G>A						5	SNP	c.(3613-3615)GCC>ACC	1	1			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Broad	dynein, axonemal, heavy chain 5			13871097	Kartagener_syndrome	0.403	ENSG00000039139	4523	g.chr5:13871097C>T	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							23.156996	KEEP	6	12	-1	58	61	6	12	-1	37.237369	58	61	0.136364	1	0	0	0	0	1	0	0	0	--	--		0	T				107	GBM-06-6391-TP	p.A1205T	C	GCAGTCAGGGCGAACTTCAAG	NM_001369	NP_001360	13871097	Q8TE73	DYH5_HUMAN	0			24	3655	-	T	T	Lung NSC(4;0.00476)		Missense_Mutation	1205			Stem (By similarity).			
DNAH5	0	broad.mit.edu	GRCh37	5	13753418	13753418	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-12-0619-01	TCGA-12-0619-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265104.4:c.10796G>C	p.Arg3599Pro	p.R3599P	ENST00000265104	NM_001369.2	3599	cGt/cCt	0			1			G	R/P	uc003jfd.2	protein_coding	YES	CCDS3882.1			10796/13875									ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	c.(10795-10797)CGT>CCT			Pfam_domain:PF12781,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	dynein, axonemal, heavy chain 5				ENSP00000265104		63/79									COSM2153655	63/79	.	Kartagener_syndrome	ENST00000265104	Transcript	1		microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000039139	g.chr5:13753418C>G	2950			MODERATE		4.73	high	getma.org/?cm=msa&ty=f&p=DYH5_HUMAN&rb=3566&re=3796&var=R3599P	getma.org/pdb.php?prot=DYH5_HUMAN&from=3566&to=3796&var=R3599P	getma.org/?cm=var&var=hg19,5,13753418,C,G&fts=all	R3599P	--	--	1																																		DNAH5_uc003jfc.2_5'UTR	1	1		possibly_damaging(0.767)	p.R3599P	NM_001369	NP_001360			1	DYH5_HUMAN	DNAH5	HGNC	Q8TE73	DYH5_HUMAN			O95496_HUMAN		63	10838	-	Lung NSC(4;0.00476)		UPI0000110101	3599			AAA 5 (By similarity).		SNV	DNAH5,missense_variant,p.Arg3599Pro,ENST00000265104,NM_001369.2;	uc003jfd.2	c.10796G>C	10901/15633	3	3			c.10796G>C						5	SNP	c.(10795-10797)CGT>CCT	50	50			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Broad	dynein, axonemal, heavy chain 5			13753418	Kartagener_syndrome	0.368	ENSG00000039139	4523	g.chr5:13753418C>G	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							170.462177	KEEP	33	16	-1	41	57	33	16	-1	172.83498	41	57	0.358209	1	0	0	0	0	1	0	0	0	--	--		0	G			DNAH5_uc003jfc.2_5'UTR	120	GBM-12-0619-TP	p.R3599P	C	CAAAGGGTAACGAGATGCCTT	NM_001369	NP_001360	13753418	Q8TE73	DYH5_HUMAN	0			63	10838	-	G	G	Lung NSC(4;0.00476)		Missense_Mutation	3599			AAA 5 (By similarity).			
DNAH5	0	broad.mit.edu	GRCh37	5	13829731	13829731	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01	TCGA-16-0861-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265104.4:c.6332G>A	p.Arg2111His	p.R2111H	ENST00000265104	NM_001369.2	2111	cGt/cAt	0			1			T	R/H	uc003jfd.2	protein_coding	YES	CCDS3882.1			6332/13875									ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	c.(6331-6333)CGT>CAT			Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,Pfam_domain:PF12774,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	dynein, axonemal, heavy chain 5				ENSP00000265104		38/79									COSM3409767	38/79	.	Kartagener_syndrome	ENST00000265104	Transcript	1		microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000039139	g.chr5:13829731C>T	2950			MODERATE		2.78	medium	getma.org/?cm=msa&ty=f&p=DYH5_HUMAN&rb=1942&re=2173&var=R2111H	getma.org/pdb.php?prot=DYH5_HUMAN&from=1942&to=2173&var=R2111H	getma.org/?cm=var&var=hg19,5,13829731,C,T&fts=all	R2111H	--	--	1																																			1	1		possibly_damaging(0.812)	p.R2111H	NM_001369	NP_001360			1	DYH5_HUMAN	DNAH5	HGNC	Q8TE73	DYH5_HUMAN			O95496_HUMAN		38	6374	-	Lung NSC(4;0.00476)		UPI0000110101	2111			AAA 1 (By similarity).		SNV	DNAH5,missense_variant,p.Arg2111His,ENST00000265104,NM_001369.2;	uc003jfd.2	c.6332G>A	6437/15633	2	2			c.6332G>A						5	SNP	c.(6331-6333)CGT>CAT	35	35			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Broad	dynein, axonemal, heavy chain 5			13829731	Kartagener_syndrome	0.463	ENSG00000039139	4523	g.chr5:13829731C>T	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							157.043145	KEEP	31	32	-1	46	50	31	32	-1	158.08716	46	50	0.40458	1	0	0	0	0	1	0	0	0	--	--		0	T				156	GBM-16-0861-TP	p.R2111H	C	GATAATCTGACGGTCAGGCAC	NM_001369	NP_001360	13829731	Q8TE73	DYH5_HUMAN	0			38	6374	-	T	T	Lung NSC(4;0.00476)		Missense_Mutation	2111			AAA 1 (By similarity).			
DNAH5	0	broad.mit.edu	GRCh37	5	13719110	13719110	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01	TCGA-19-5951-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265104.4:c.12380G>A	p.Arg4127His	p.R4127H	ENST00000265104	NM_001369.2	4127	cGc/cAc	0			1			T	R/H	uc003jfd.2	protein_coding	YES	CCDS3882.1			12380/13875									ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	c.(12379-12381)CGC>CAC			Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	dynein, axonemal, heavy chain 5				ENSP00000265104		72/79	7.41E-05			0.000812		1.50E-05		6.07E-05	rs762555871,COSM2156646	72/79	common_variant	Kartagener_syndrome	ENST00000265104	Transcript	1		microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000039139	g.chr5:13719110C>T	2950			MODERATE		4.605	high	getma.org/?cm=msa&ty=f&p=DYH5_HUMAN&rb=3927&re=4622&var=R4127H	getma.org/pdb.php?prot=DYH5_HUMAN&from=3927&to=4622&var=R4127H	getma.org/?cm=var&var=hg19,5,13719110,C,T&fts=all	R4127H	--	--	1																																		DNAH5_uc003jfc.2_Missense_Mutation_p.R295H	0,1	1		possibly_damaging(0.812)	p.R4127H	NM_001369	NP_001360			0,1	DYH5_HUMAN	DNAH5	HGNC	Q8TE73	DYH5_HUMAN			O95496_HUMAN		72	12422	-	Lung NSC(4;0.00476)		UPI0000110101	4127			AAA 6 (By similarity).		SNV	DNAH5,missense_variant,p.Arg4127His,ENST00000265104,NM_001369.2;	uc003jfd.2	c.12380G>A	12485/15633	2	2			c.12380G>A						5	SNP	c.(12379-12381)CGC>CAC	34	34			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Broad	dynein, axonemal, heavy chain 5			13719110	Kartagener_syndrome	0.493	ENSG00000039139	4523	g.chr5:13719110C>T	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							103.652035	KEEP	14	23	-1	23	23	14	23	-1	103.756173	23	23	0.459459	1	0	0	0	0	1	0	0	0	--	--		0	T			DNAH5_uc003jfc.2_Missense_Mutation_p.R295H	171	GBM-19-5951-TP	p.R4127H	C	CATCCAGAGGCGGAACGCATC	NM_001369	NP_001360	13719110	Q8TE73	DYH5_HUMAN	0			72	12422	-	T	T	Lung NSC(4;0.00476)		Missense_Mutation	4127			AAA 6 (By similarity).			
DNAH5	0	broad.mit.edu	GRCh37	5	13841162	13841162	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-27-1830-01	TCGA-27-1830-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265104.4:c.5562A>T	p.Lys1854Asn	p.K1854N	ENST00000265104	NM_001369.2	1854	aaA/aaT	0			1			A	K/N	uc003jfd.2	protein_coding	YES	CCDS3882.1			5562/13875									ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	c.(5560-5562)AAA>AAT			hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	dynein, axonemal, heavy chain 5				ENSP00000265104		34/79									COSM3409769	34/79	.	Kartagener_syndrome	ENST00000265104	Transcript	1		microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000039139	g.chr5:13841162T>A	2950			MODERATE		1.405	low	getma.org/?cm=msa&ty=f&p=DYH5_HUMAN&rb=1813&re=1941&var=K1854N	getma.org/pdb.php?prot=DYH5_HUMAN&from=1813&to=1941&var=K1854N	getma.org/?cm=var&var=hg19,5,13841162,T,A&fts=all	K1854N	--	--	1																																			1	1		benign(0.403)	p.K1854N	NM_001369	NP_001360			1	DYH5_HUMAN	DNAH5	HGNC	Q8TE73	DYH5_HUMAN			O95496_HUMAN		34	5604	-	Lung NSC(4;0.00476)		UPI0000110101	1854			Stem (By similarity).		SNV	DNAH5,missense_variant,p.Lys1854Asn,ENST00000265104,NM_001369.2;	uc003jfd.2	c.5562A>T	5667/15633	2	2			c.5562A>T						5	SNP	c.(5560-5562)AAA>AAT	34	34			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Broad	dynein, axonemal, heavy chain 5			13841162	Kartagener_syndrome	0.398	ENSG00000039139	4523	g.chr5:13841162T>A	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							139.44322	KEEP	27	30	-1	60	48	27	30	-1	143.159479	60	48	0.335484	1	0	0	0	0	1	0	0	0	--	--		0	A				189	GBM-27-1830-TP	p.K1854N	T	TCTGCATGATTTTTTTATCAA	NM_001369	NP_001360	13841162	Q8TE73	DYH5_HUMAN	0			34	5604	-	A	A	Lung NSC(4;0.00476)		Missense_Mutation	1854			Stem (By similarity).			
DNAH5	0	broad.mit.edu	GRCh37	5	13841119	13841119	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-2634-01	TCGA-32-2634-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265104.4:c.5605A>G	p.Thr1869Ala	p.T1869A	ENST00000265104	NM_001369.2	1869	Aca/Gca	0			1			C	T/A	uc003jfd.2	protein_coding	YES	CCDS3882.1			5605/13875									ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	c.(5605-5607)ACA>GCA			hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	dynein, axonemal, heavy chain 5				ENSP00000265104		34/79									COSM3409768	34/79	.	Kartagener_syndrome	ENST00000265104	Transcript	1		microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000039139	g.chr5:13841119T>C	2950			MODERATE		1.65	low	getma.org/?cm=msa&ty=f&p=DYH5_HUMAN&rb=1813&re=1941&var=T1869A	getma.org/pdb.php?prot=DYH5_HUMAN&from=1813&to=1941&var=T1869A	getma.org/?cm=var&var=hg19,5,13841119,T,C&fts=all	T1869A	--	--	1																																			1	1		benign(0.217)	p.T1869A	NM_001369	NP_001360			1	DYH5_HUMAN	DNAH5	HGNC	Q8TE73	DYH5_HUMAN			O95496_HUMAN		34	5647	-	Lung NSC(4;0.00476)		UPI0000110101	1869			Stem (By similarity).		SNV	DNAH5,missense_variant,p.Thr1869Ala,ENST00000265104,NM_001369.2;	uc003jfd.2	c.5605A>G	5710/15633	3	3			c.5605A>G						5	SNP	c.(5605-5607)ACA>GCA	52	52			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Broad	dynein, axonemal, heavy chain 5			13841119	Kartagener_syndrome	0.413	ENSG00000039139	4523	g.chr5:13841119T>C	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							281.802204	KEEP	48	35	-1	57	40	48	35	-1	281.991387	57	40	0.463415	1	0	0	0	0	1	0	0	0	--	--		0	C				241	GBM-32-2634-TP	p.T1869A	T	TCTATCAATGTATTGAGTAGC	NM_001369	NP_001360	13841119	Q8TE73	DYH5_HUMAN	0			34	5647	-	C	C	Lung NSC(4;0.00476)		Missense_Mutation	1869			Stem (By similarity).			
DNAH5	0	broad.mit.edu	GRCh37	5	13809274	13809274	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01	TCGA-32-4211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265104.4:c.7631C>T	p.Thr2544Met	p.T2544M	ENST00000265104	NM_001369.2	2544	aCg/aTg	0			1			A	T/M	uc003jfd.2	protein_coding	YES	CCDS3882.1			7631/13875									ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	c.(7630-7632)ACG>ATG			hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	dynein, axonemal, heavy chain 5				ENSP00000265104		46/79	1.65E-05			0.000231					rs766316984,COSM181310	46/79	.	Kartagener_syndrome	ENST00000265104	Transcript	1		microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000039139	g.chr5:13809274G>A	2950			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=DYH5_HUMAN&rb=2394&re=2553&var=T2544M	NA	getma.org/?cm=var&var=hg19,5,13809274,G,A&fts=all	T2544M	--	--	1																																			0,1	1		possibly_damaging(0.791)	p.T2544M	NM_001369	NP_001360			0,1	DYH5_HUMAN	DNAH5	HGNC	Q8TE73	DYH5_HUMAN			O95496_HUMAN		46	7673	-	Lung NSC(4;0.00476)		UPI0000110101	2544					SNV	DNAH5,missense_variant,p.Thr2544Met,ENST00000265104,NM_001369.2;DNAH5,non_coding_transcript_exon_variant,,ENST00000512443,;	uc003jfd.2	c.7631C>T	7736/15633	2	2			c.7631C>T						5	SNP	c.(7630-7632)ACG>ATG	17	17			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Broad	dynein, axonemal, heavy chain 5			13809274	Kartagener_syndrome	0.438	ENSG00000039139	4523	g.chr5:13809274G>A	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							-29.71171	KEEP	8	6	-1	120	157	8	6	-1	24.35723	120	157	0.048193	1	0	0	0	0	1	0	0	0	--	--		0	A				246	GBM-32-4211-TP	p.T2544M	G	CTGGGTACGCGTGTTCCAGTG	NM_001369	NP_001360	13809274	Q8TE73	DYH5_HUMAN	0			46	7673	-	A	A	Lung NSC(4;0.00476)		Missense_Mutation	2544						
DNAH5	0	broad.mit.edu	GRCh37	5	13883072	13883072	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-32-4213-01	TCGA-32-4213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265104.4:c.3115G>T	p.Glu1039Ter	p.E1039*	ENST00000265104	NM_001369.2	1039	Gag/Tag	0			1			A	E/*	uc003jfd.2	protein_coding	YES	CCDS3882.1			3115/13875									ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	c.(3115-3117)GAG>TAG			hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240	dynein, axonemal, heavy chain 5				ENSP00000265104		20/79									COSM3409774	20/79	.	Kartagener_syndrome	ENST00000265104	Transcript	1		microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000039139	g.chr5:13883072C>A	2950			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,5,13883072,C,A&fts=all	E1039*	--	--	1																																			1	1			p.E1039*	NM_001369	NP_001360			1	DYH5_HUMAN	DNAH5	HGNC	Q8TE73	DYH5_HUMAN			O95496_HUMAN		20	3157	-	Lung NSC(4;0.00476)		UPI0000110101	1039			Stem (By similarity).		SNV	DNAH5,stop_gained,p.Glu1039Ter,ENST00000265104,NM_001369.2;CTB-51A17.1,intron_variant,,ENST00000503244,;	uc003jfd.2	c.3115G>T	3220/15633	5	2			c.3115G>T						5	SNP	c.(3115-3117)GAG>TAG	43	43			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Broad	dynein, axonemal, heavy chain 5			13883072	Kartagener_syndrome	0.537	ENSG00000039139	4523	g.chr5:13883072C>A	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							256.108948	KEEP	48	57	0.542857143	67	82	48	57	0.542857143	258.187146	67	82	0.399142	1	0	0	0	0	0	1	0	0	--	--		0	A				247	GBM-32-4213-TP	p.E1039*	C	ATGATGCACTCCACGGCTTTG	NM_001369	NP_001360	13883072	Q8TE73	DYH5_HUMAN	0			20	3157	-	A	A	Lung NSC(4;0.00476)		Nonsense_Mutation	1039			Stem (By similarity).			
DNAH5	1767		GRCh37	5	13717485	13717485	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000265104.4:c.12644C>T	p.Ala4215Val	p.A4215V	ENST00000265104	NM_001369.2	4215	gCg/gTg	0																																																																																																																																																																																																																																												
DNAH5	1767		GRCh37	5	13885213	13885213	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000265104.4:c.2868C>T	p.Arg956=	p.R956=	ENST00000265104	NM_001369.2	956	cgC/cgT	0																																																																																																																																																																																																																																												
DNAH7	56171	broad.mit.edu	GRCh37	2	196852773	196852773	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-2558-01	TCGA-06-2558-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312428.6:c.1534T>C	p.Phe512Leu	p.F512L	ENST00000312428	NM_018897.2	512	Ttc/Ctc	0			1			G	F/L	uc002utj.3	protein_coding	YES	CCDS42794.1			1534/12075									skin(10)|ovary(2)	12	c.(1534-1536)TTC>CTC			hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676	dynein, axonemal, heavy chain 7				ENSP00000311273		13/65									COSM3407445	13/65	.		ENST00000312428	Transcript			ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	ENSG00000118997	g.chr2:196852773A>G	18661			MODERATE		1.98	medium	getma.org/?cm=msa&ty=f&p=DYH7_HUMAN&rb=401&re=600&var=F512L	NA	getma.org/?cm=var&var=hg19,2,196852773,A,G&fts=all	F512L	--	--	1																																			1	1		benign(0.065)	p.F512L	NM_018897	NP_061720		deleterious(0.04)	1	DYH7_HUMAN	DNAH7	HGNC	Q8WXX0	DYH7_HUMAN			C9JUY3_HUMAN		13	1635	-			UPI0000141B95	512			Stem (By similarity).		SNV	DNAH7,missense_variant,p.Phe512Leu,ENST00000312428,NM_018897.2;	uc002utj.3	c.1534T>C	1635/12394	4	4			c.1534T>C						2	SNP	c.(1534-1536)TTC>CTC	32	32			skin(10)|ovary(2)	12	Broad	dynein, axonemal, heavy chain 7			196852773		0.338	ENSG00000118997	4524	g.chr2:196852773A>G	ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity							-6.668474	KEEP	3	1	-1	31	51	3	1	-1	10.513116	31	51	0.05	1	0	0	0	0	1	0	0	0	--	--		0	G				82	GBM-06-2558-TP	p.F512L	A	TCTGCGAGGAAGTTATCAACA	NM_018897	NP_061720	196852773	Q8WXX0	DYH7_HUMAN	0			13	1635	-	G	G			Missense_Mutation	512			Stem (By similarity).			
DNAH7	56171	broad.mit.edu	GRCh37	2	196689149	196689149	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5411-01	TCGA-06-5411-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312428.6:c.9121G>A	p.Glu3041Lys	p.E3041K	ENST00000312428	NM_018897.2	3041	Gaa/Aaa	0			1			T	E/K	uc002utj.3	protein_coding	YES	CCDS42794.1			9121/12075									skin(10)|ovary(2)	12	c.(9121-9123)GAA>AAA			Low_complexity_(Seg):seg,hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF12781	dynein, axonemal, heavy chain 7				ENSP00000311273		49/65	3.31E-05					6.01E-05			rs753140811,COSM3407441	49/65	.		ENST00000312428	Transcript			ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	ENSG00000118997	g.chr2:196689149C>T	18661			MODERATE		4.38	high	getma.org/?cm=msa&ty=f&p=DYH7_HUMAN&rb=2953&re=3183&var=E3041K	getma.org/pdb.php?prot=DYH7_HUMAN&from=2953&to=3183&var=E3041K	getma.org/?cm=var&var=hg19,2,196689149,C,T&fts=all	E3041K	--	--	1																																			0,1	1		probably_damaging(0.994)	p.E3041K	NM_018897	NP_061720		deleterious(0)	0,1	DYH7_HUMAN	DNAH7	HGNC	Q8WXX0	DYH7_HUMAN			C9JUY3_HUMAN		49	9222	-			UPI0000141B95	3041			AAA 5 (By similarity).		SNV	DNAH7,missense_variant,p.Glu3041Lys,ENST00000312428,NM_018897.2;DNAH7,non_coding_transcript_exon_variant,,ENST00000493844,;	uc002utj.3	c.9121G>A	9222/12394	1	1			c.9121G>A						2	SNP	c.(9121-9123)GAA>AAA	13	13			skin(10)|ovary(2)	12	Broad	dynein, axonemal, heavy chain 7			196689149		0.338	ENSG00000118997	4524	g.chr2:196689149C>T	ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity							13.398575	KEEP	3	7	-1	39	43	3	7	-1	23.904667	39	43	0.128205	1	0	0	0	0	1	0	0	0	--	--		0	T				94	GBM-06-5411-TP	p.E3041K	C	TCTAGTTCTTCGCCAACATTT	NM_018897	NP_061720	196689149	Q8WXX0	DYH7_HUMAN	0			49	9222	-	T	T			Missense_Mutation	3041			AAA 5 (By similarity).			
DNAH7	0	broad.mit.edu	GRCh37	2	196741332	196741332	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-12-0615-01	TCGA-12-0615-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312428.6:c.6053T>C	p.Ile2018Thr	p.I2018T	ENST00000312428	NM_018897.2	2018	aTt/aCt	0			1			G	I/T	uc002utj.3	protein_coding	YES	CCDS42794.1			6053/12075									skin(10)|ovary(2)	12	c.(6052-6054)ATT>ACT			hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF12775,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	dynein, axonemal, heavy chain 7				ENSP00000311273		37/65	1.66E-05			0.000116		1.50E-05			rs769826085,COSM2153488	37/65	.		ENST00000312428	Transcript			ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	ENSG00000118997	g.chr2:196741332A>G	18661			MODERATE		1.56	low	getma.org/?cm=msa&ty=f&p=DYH7_HUMAN&rb=1938&re=2211&var=I2018T	getma.org/pdb.php?prot=DYH7_HUMAN&from=1938&to=2211&var=I2018T	getma.org/?cm=var&var=hg19,2,196741332,A,G&fts=all	I2018T	--	--	1																																			0,1	1		possibly_damaging(0.718)	p.I2018T	NM_018897	NP_061720		deleterious(0.02)	0,1	DYH7_HUMAN	DNAH7	HGNC	Q8WXX0	DYH7_HUMAN			C9JUY3_HUMAN		37	6154	-			UPI0000141B95	2018			AAA 3 (By similarity).		SNV	DNAH7,missense_variant,p.Ile2018Thr,ENST00000312428,NM_018897.2;	uc002utj.3	c.6053T>C	6154/12394	3	3			c.6053T>C						2	SNP	c.(6052-6054)ATT>ACT	59	59			skin(10)|ovary(2)	12	Broad	dynein, axonemal, heavy chain 7			196741332		0.363	ENSG00000118997	4524	g.chr2:196741332A>G	ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity							159.223297	KEEP	26	22	-1	45	39	26	22	-1	160.937108	45	39	0.373984	1	0	0	0	0	1	0	0	0	--	--		0	G				117	GBM-12-0615-TP	p.I2018T	A	TGACATGACAATATTCTGAGT	NM_018897	NP_061720	196741332	Q8WXX0	DYH7_HUMAN	0			37	6154	-	G	G			Missense_Mutation	2018			AAA 3 (By similarity).			
DNAH7	0	broad.mit.edu	GRCh37	2	196765215	196765215	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-19-2620-01	TCGA-19-2620-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312428.6:c.4339C>G	p.Leu1447Val	p.L1447V	ENST00000312428	NM_018897.2	1447	Ctc/Gtc	0			1			C	L/V	uc002utj.3	protein_coding	YES	CCDS42794.1			4339/12075									skin(10)|ovary(2)	12	c.(4339-4341)CTC>GTC			hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF12774,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540	dynein, axonemal, heavy chain 7				ENSP00000311273		28/65									COSM3407443	28/65	.		ENST00000312428	Transcript			ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	ENSG00000118997	g.chr2:196765215G>C	18661			MODERATE		4.245	high	getma.org/?cm=msa&ty=f&p=DYH7_HUMAN&rb=1290&re=1520&var=L1447V	getma.org/pdb.php?prot=DYH7_HUMAN&from=1290&to=1520&var=L1447V	getma.org/?cm=var&var=hg19,2,196765215,G,C&fts=all	L1447V	--	--	1																																			1	1		probably_damaging(1)	p.L1447V	NM_018897	NP_061720		deleterious(0)	1	DYH7_HUMAN	DNAH7	HGNC	Q8WXX0	DYH7_HUMAN			C9JUY3_HUMAN		28	4440	-			UPI0000141B95	1447			AAA 1 (By similarity).		SNV	DNAH7,missense_variant,p.Leu1447Val,ENST00000312428,NM_018897.2;DNAH7,non_coding_transcript_exon_variant,,ENST00000475293,;	uc002utj.3	c.4339C>G	4440/12394	3	3			c.4339C>G						2	SNP	c.(4339-4341)CTC>GTC	57	57			skin(10)|ovary(2)	12	Broad	dynein, axonemal, heavy chain 7			196765215		0.303	ENSG00000118997	4524	g.chr2:196765215G>C	ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity							71.870529	KEEP	14	14	-1	59	48	14	14	-1	83.163207	59	48	0.19697	1	0	0	0	0	1	0	0	0	--	--		0	C				162	GBM-19-2620-TP	p.L1447V	G	GTCCGAAAGAGAGCCTATGGG	NM_018897	NP_061720	196765215	Q8WXX0	DYH7_HUMAN	0			28	4440	-	C	C			Missense_Mutation	1447			AAA 1 (By similarity).			
DNAH7	0	broad.mit.edu	GRCh37	2	196753131	196753131	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-28-5216-01	TCGA-28-5216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312428.6:c.5257G>C	p.Glu1753Gln	p.E1753Q	ENST00000312428	NM_018897.2	1753	Gag/Cag	0			1			G	E/Q	uc002utj.3	protein_coding	YES	CCDS42794.1			5257/12075									skin(10)|ovary(2)	12	c.(5257-5259)GAG>CAG			hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	dynein, axonemal, heavy chain 7				ENSP00000311273		33/65									COSM3407442	33/65	.		ENST00000312428	Transcript			ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	ENSG00000118997	g.chr2:196753131C>G	18661			MODERATE		2.85	medium	getma.org/?cm=msa&ty=f&p=DYH7_HUMAN&rb=1721&re=1920&var=E1753Q	getma.org/pdb.php?prot=DYH7_HUMAN&from=1721&to=1920&var=E1753Q	getma.org/?cm=var&var=hg19,2,196753131,C,G&fts=all	E1753Q	--	--	1																																			1	1		probably_damaging(0.992)	p.E1753Q	NM_018897	NP_061720		deleterious(0)	1	DYH7_HUMAN	DNAH7	HGNC	Q8WXX0	DYH7_HUMAN			C9JUY3_HUMAN		33	5358	-			UPI0000141B95	1753			AAA 2 (By similarity).		SNV	DNAH7,missense_variant,p.Glu1753Gln,ENST00000312428,NM_018897.2;DNAH7,downstream_gene_variant,,ENST00000475293,;	uc002utj.3	c.5257G>C	5358/12394	3	3			c.5257G>C						2	SNP	c.(5257-5259)GAG>CAG	4	4			skin(10)|ovary(2)	12	Broad	dynein, axonemal, heavy chain 7			196753131		0.393	ENSG00000118997	4524	g.chr2:196753131C>G	ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity							-6.923268	KEEP	2	3	-1	45	41	2	3	-1	10.493516	45	41	0.049383	1	0	0	0	0	1	0	0	0	--	--		0	G				223	GBM-28-5216-TP	p.E1753Q	C	ATGTGAGGCTCCATGTAAATC	NM_018897	NP_061720	196753131	Q8WXX0	DYH7_HUMAN	0			33	5358	-	G	G			Missense_Mutation	1753			AAA 2 (By similarity).			
DNAH7	0	broad.mit.edu	GRCh37	2	196681639	196681639	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-1982-01	TCGA-32-1982-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312428.6:c.9474G>A	p.Ser3158=	p.S3158=	ENST00000312428	NM_018897.2	3158	tcG/tcA	0	T:0		1			T	S	uc002utj.3	protein_coding	YES	CCDS42794.1			9474/12075									skin(10)|ovary(2)	12	c.(9472-9474)TCG>TCA			hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF12781	dynein, axonemal, heavy chain 7			T:0.0001	ENSP00000311273		51/65	2.48E-05					3.06E-05		6.18E-05	rs375959193,COSM1014284	51/65	.		ENST00000312428	Transcript			ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	ENSG00000118997	g.chr2:196681639C>T	18661			LOW								--	--	1																																			0,1	1			p.S3158S	NM_018897	NP_061720			0,1	DYH7_HUMAN	DNAH7	HGNC	Q8WXX0	DYH7_HUMAN			C9JUY3_HUMAN		51	9575	-			UPI0000141B95	3158			AAA 5 (By similarity).		SNV	DNAH7,synonymous_variant,p.=,ENST00000312428,NM_018897.2;DNAH7,downstream_gene_variant,,ENST00000493844,;	uc002utj.3	c.9474G>A	9575/12394	2	2			c.9474G>A						2	SNP	c.(9472-9474)TCG>TCA	32	32			skin(10)|ovary(2)	12	Broad	dynein, axonemal, heavy chain 7			196681639		0.323	ENSG00000118997	4524	g.chr2:196681639C>T	ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity							51.495073	KEEP	8	11	-1	28	31	8	11	-1	55.633627	28	31	0.253333	1	0	0	0	0	0	0	1	0	--	--		0	T				232	GBM-32-1982-TP	p.S3158S	C	TATTGCCTTCCGAAGATGAAA	NM_018897	NP_061720	196681639	Q8WXX0	DYH7_HUMAN	0			51	9575	-	T	T			Silent	3158			AAA 5 (By similarity).			
DNAH8	1769	broad.mit.edu	GRCh37	6	38704936	38704936	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0173-01	TCGA-06-0173-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359357.3:c.205A>G	p.Thr69Ala	p.T69A	ENST00000359357		69	Aca/Gca	0			1			G	T/A	uc003ooe.1	protein_coding	YES				205/13473									skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21	c.(205-207)ACA>GCA			hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229	dynein, axonemal, heavy polypeptide 8				ENSP00000352312		Apr-91	8.24E-06					1.50E-05			rs779369031,COSM2150424,COSM2150423,COSM3411050	Apr-91	.		ENST00000359357	Transcript						ENSG00000124721	g.chr6:38704936A>G	2952			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=DYH8_HUMAN&rb=1&re=134&var=T69A	NA	getma.org/?cm=var&var=hg19,6,38704936,A,G&fts=all	T69A	--	--	1																																			0,1,1,1	1		benign(0.002)	p.T69A	NM_001371	NP_001362			0,1,1,1	DYH8_HUMAN	DNAH8	HGNC							4	805	+			UPI00003677EB						SNV	DNAH8,missense_variant,p.Thr274Ala,ENST00000327475,NM_001206927.1;DNAH8,missense_variant,p.Thr69Ala,ENST00000359357,;DNAH8,missense_variant,p.Thr69Ala,ENST00000441566,;DNAH8,missense_variant,p.Thr286Ala,ENST00000449981,;DNAH8,downstream_gene_variant,,ENST00000373278,;	uc003ooe.1	c.205A>G	459/13860	3	3			c.205A>G						6	SNP	c.(205-207)ACA>GCA	62	62			skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21	Broad	dynein, axonemal, heavy polypeptide 8			38704936		0.383	ENSG00000124721	4525	g.chr6:38704936A>G						2979			2979	274.279384	KEEP	34	46	-1	63	54	34	46	-1	275.291133	63	54	0.41989	1	0	0	0	0	1	0	0	0	--	--		0	G				36	GBM-06-0173-TP	p.T69A	A	TGTTCTTGCAACAAACAACTG	NM_001371	NP_001362	38704936			0			4	805	+	G	G			Missense_Mutation							
DNAH8	1769	broad.mit.edu	GRCh37	6	38709656	38709656	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0195-01	TCGA-06-0195-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359357.3:c.635del	p.Leu212ArgfsTer2	p.L212Rfs*2	ENST00000359357		212	cTg/cg	0			1			-	L/X	uc003ooe.1	protein_coding	YES				635/13473									skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21	c.(634-636)CTGfs			Pfam_domain:PF08385,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229	dynein, axonemal, heavy polypeptide 8				ENSP00000352312		Jun-91										Jun-91	.		ENST00000359357	Transcript						ENSG00000124721	g.chr6:38709656delT	2952			HIGH								--	--	1																																				1			p.L212fs	NM_001371	NP_001362				DYH8_HUMAN	DNAH8	HGNC							6	1235	+			UPI00003677EB						deletion	DNAH8,frameshift_variant,p.Leu417ArgfsTer2,ENST00000327475,NM_001206927.1;DNAH8,frameshift_variant,p.Leu212ArgfsTer2,ENST00000359357,;DNAH8,frameshift_variant,p.Leu212ArgfsTer2,ENST00000441566,;DNAH8,frameshift_variant,p.Leu429ArgfsTer2,ENST00000449981,;RN7SL465P,upstream_gene_variant,,ENST00000468411,;	uc003ooe.1	c.635delT	889/13860	5	5			c.635delT						6	DEL	c.(634-636)CTGfs	56	56			skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21	Broad	dynein, axonemal, heavy polypeptide 8			38709656		0.343	ENSG00000124721	4525	g.chr6:38709656delT						2979			2979														0.15	1	1	0	1	0	0	0	0	0	--	--		0	-				45	GBM-06-0195-TP	p.L212fs	T	CACTCCAAACTGCTAAAGGTA	NM_001371	NP_001362	38709656			0			6	1235	+	-	-			Frame_Shift_Del							
DNAH8	1769	broad.mit.edu	GRCh37	6	38885721	38885721	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0237-01	TCGA-06-0237-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359357.3:c.9678C>A	p.Phe3226Leu	p.F3226L	ENST00000359357		3226	ttC/ttA	0			1			A	F/L	uc003ooe.1	protein_coding	YES				9678/13473									skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21	c.(9676-9678)TTC>TTA			Pfam_domain:PF12777,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229	dynein, axonemal, heavy polypeptide 8				ENSP00000352312		68/91									COSM2151038,COSM2151037,COSM3411073	68/91	.		ENST00000359357	Transcript						ENSG00000124721	g.chr6:38885721C>A	2952			MODERATE		3.215	medium	getma.org/?cm=msa&ty=f&p=DYH8_HUMAN&rb=3065&re=3415&var=F3226L	getma.org/pdb.php?prot=DYH8_HUMAN&from=3065&to=3415&var=F3226L	getma.org/?cm=var&var=hg19,6,38885721,C,A&fts=all	F3226L	--	--	1																																		uc003oof.1_Intron	1,1,1	1		probably_damaging(0.967)	p.F3226L	NM_001371	NP_001362			1,1,1	DYH8_HUMAN	DNAH8	HGNC							68	10278	+			UPI00003677EB						SNV	DNAH8,missense_variant,p.Phe3431Leu,ENST00000327475,NM_001206927.1;DNAH8,missense_variant,p.Phe3226Leu,ENST00000359357,;DNAH8,missense_variant,p.Phe3190Leu,ENST00000441566,;DNAH8,missense_variant,p.Phe3443Leu,ENST00000449981,;	uc003ooe.1	c.9678C>A	9932/13860	1	1			c.9678C>A						6	SNP	c.(9676-9678)TTC>TTA	57	57			skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21	Broad	dynein, axonemal, heavy polypeptide 8			38885721		0.333	ENSG00000124721	4525	g.chr6:38885721C>A						2979			2979	146.697057	KEEP	31	23	0.425925926	28	21	31	23	0.425925926	146.734453	28	21	0.521739	1	0	0	0	0	1	0	0	0	--	--		0	A			uc003oof.1_Intron	54	GBM-06-0237-TP	p.F3226L	C	CAACAGGATTCCTGTGGAGCC	NM_001371	NP_001362	38885721			0			68	10278	+	A	A			Missense_Mutation							
DNAH8	0	broad.mit.edu	GRCh37	6	38704949	38704949	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-6695-01	TCGA-06-6695-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359357.3:c.218G>T	p.Gly73Val	p.G73V	ENST00000359357		73	gGt/gTt	0			1			T	G/V	uc003ooe.1	protein_coding	YES				218/13473									skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21	c.(217-219)GGT>GTT			hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229	dynein, axonemal, heavy polypeptide 8				ENSP00000352312		Apr-91									COSM3411051,COSM3411052,COSM3411053	Apr-91	.		ENST00000359357	Transcript						ENSG00000124721	g.chr6:38704949G>T	2952			MODERATE		2.365	medium	getma.org/?cm=msa&ty=f&p=DYH8_HUMAN&rb=1&re=134&var=G73V	NA	getma.org/?cm=var&var=hg19,6,38704949,G,T&fts=all	G73V	--	--	1																																			1,1,1	1		probably_damaging(0.998)	p.G73V	NM_001371	NP_001362			1,1,1	DYH8_HUMAN	DNAH8	HGNC							4	818	+			UPI00003677EB						SNV	DNAH8,missense_variant,p.Gly278Val,ENST00000327475,NM_001206927.1;DNAH8,missense_variant,p.Gly73Val,ENST00000359357,;DNAH8,missense_variant,p.Gly73Val,ENST00000441566,;DNAH8,missense_variant,p.Gly290Val,ENST00000449981,;DNAH8,downstream_gene_variant,,ENST00000373278,;	uc003ooe.1	c.218G>T	472/13860	1	1			c.218G>T						6	SNP	c.(217-219)GGT>GTT	4	4			skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21	Broad	dynein, axonemal, heavy polypeptide 8			38704949		0.353	ENSG00000124721	4525	g.chr6:38704949G>T						2979			2979	96.414395	KEEP	18	15	0.545454545	24	20	18	15	0.545454545	96.663121	24	20	0.43662	1	0	0	0	0	1	0	0	0	--	--		0	T				110	GBM-06-6695-TP	p.G73V	G	AACAACTGGGGTGCTTTAAAC	NM_001371	NP_001362	38704949			0			4	818	+	T	T			Missense_Mutation							
DNAH8	0	broad.mit.edu	GRCh37	6	38834386	38834386	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs139579198		TCGA-12-5299-01	TCGA-12-5299-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359357.3:c.5867G>A	p.Arg1956His	p.R1956H	ENST00000359357		1956	cGc/cAc	0	T:0.0002		1			A	R/H	uc003ooe.1	protein_coding	YES				5867/13473									skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21	c.(5866-5868)CGC>CAC			Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,Pfam_domain:PF12774,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229	dynein, axonemal, heavy polypeptide 8			T:0	ENSP00000352312		44/91	1.65E-05					3.11E-05			rs139579198,COSM244095,COSM244096,COSM3411066	44/91	.		ENST00000359357	Transcript						ENSG00000124721	g.chr6:38834386G>A	2952			MODERATE		3.775	high	getma.org/?cm=msa&ty=f&p=DYH8_HUMAN&rb=1808&re=2039&var=R1956H	getma.org/pdb.php?prot=DYH8_HUMAN&from=1808&to=2039&var=R1956H	getma.org/?cm=var&var=hg19,6,38834386,G,A&fts=all	R1956H	--	--	1																																			0,1,1,1	1		probably_damaging(1)	p.R1956H	NM_001371	NP_001362			0,1,1,1	DYH8_HUMAN	DNAH8	HGNC							44	6467	+			UPI00003677EB						SNV	DNAH8,missense_variant,p.Arg2161His,ENST00000327475,NM_001206927.1;DNAH8,missense_variant,p.Arg1956His,ENST00000359357,;DNAH8,missense_variant,p.Arg1956His,ENST00000441566,;DNAH8,missense_variant,p.Arg2173His,ENST00000449981,;DNAH8,missense_variant,p.Arg38His,ENST00000394393,;	uc003ooe.1	c.5867G>A	6121/13860	1	1			c.5867G>A						6	SNP	c.(5866-5868)CGC>CAC	64	64			skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21	Broad	dynein, axonemal, heavy polypeptide 8			38834386		0.323	ENSG00000124721	4525	g.chr6:38834386G>A						2979			2979	145.441958	KEEP	28	23	-1	34	23	28	23	-1	145.616175	34	23	0.455446	1	0	0	0	0	1	0	0	0	--	--		0	A				130	GBM-12-5299-TP	p.R1956H	G	TATGCTGGGCGCCAGGAACTA	NM_001371	NP_001362	38834386			0			44	6467	+	A	A			Missense_Mutation							
DNAH8	0	broad.mit.edu	GRCh37	6	38783392	38783392	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-14-4157-01	TCGA-14-4157-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359357.3:c.2831T>C	p.Val944Ala	p.V944A	ENST00000359357		944	gTg/gCg	0			1			C	V/A	uc003ooe.1	protein_coding	YES				2831/13473									skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21	c.(2830-2832)GTG>GCG			hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229	dynein, axonemal, heavy polypeptide 8				ENSP00000352312		24/91									COSM3411057,COSM3411058,COSM3411059	24/91	.		ENST00000359357	Transcript						ENSG00000124721	g.chr6:38783392T>C	2952			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=DYH8_HUMAN&rb=896&re=1095&var=V944A	NA	getma.org/?cm=var&var=hg19,6,38783392,T,C&fts=all	V944A	--	--	1																																			1,1,1	1		benign(0)	p.V944A	NM_001371	NP_001362			1,1,1	DYH8_HUMAN	DNAH8	HGNC							24	3431	+			UPI00003677EB						SNV	DNAH8,missense_variant,p.Val1149Ala,ENST00000327475,NM_001206927.1;DNAH8,missense_variant,p.Val944Ala,ENST00000359357,;DNAH8,missense_variant,p.Val944Ala,ENST00000441566,;DNAH8,missense_variant,p.Val1161Ala,ENST00000449981,;	uc003ooe.1	c.2831T>C	3085/13860	3	3			c.2831T>C						6	SNP	c.(2830-2832)GTG>GCG	11	11			skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21	Broad	dynein, axonemal, heavy polypeptide 8			38783392		0.448	ENSG00000124721	4525	g.chr6:38783392T>C						2979			2979	144.331279	KEEP	21	39	-1	23	32	21	39	-1	144.466307	23	32	0.544304	1	0	0	0	0	1	0	0	0	--	--		0	C				152	GBM-14-4157-TP	p.V944A	T	ACTACTGACGTGACCCATCAA	NM_001371	NP_001362	38783392			0			24	3431	+	C	C			Missense_Mutation							
DNAH8	0	broad.mit.edu	GRCh37	6	38750809	38750809	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-2526-01	TCGA-27-2526-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359357.3:c.1638C>T	p.Asp546=	p.D546=	ENST00000359357		546	gaC/gaT	0		T:0	1	T:0		T	D	uc003ooe.1	protein_coding	YES				1638/13473									skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21	c.(1636-1638)GAC>GAT			Pfam_domain:PF08385,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229	dynein, axonemal, heavy polypeptide 8		T:0		ENSP00000352312	T:0	15/91	7.41E-05			0.000116		3.00E-05		0.000364	rs570158039,COSM3411054,COSM3411055,COSM3411056	15/91	.		ENST00000359357	Transcript		T:0.0002				ENSG00000124721	g.chr6:38750809C>T	2952			LOW								--	--	1																																			0,1,1,1	1			p.D546D	NM_001371	NP_001362	T:0.001		0,1,1,1	DYH8_HUMAN	DNAH8	HGNC							15	2238	+			UPI00003677EB						SNV	DNAH8,synonymous_variant,p.=,ENST00000327475,NM_001206927.1;DNAH8,synonymous_variant,p.=,ENST00000359357,;DNAH8,synonymous_variant,p.=,ENST00000441566,;DNAH8,synonymous_variant,p.=,ENST00000449981,;	uc003ooe.1	c.1638C>T	1892/13860	1	1			c.1638C>T						6	SNP	c.(1636-1638)GAC>GAT	3	3			skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21	Broad	dynein, axonemal, heavy polypeptide 8			38750809		0.378	ENSG00000124721	4525	g.chr6:38750809C>T						2979			2979	154.576497	KEEP	29	30	-1	48	33	29	30	-1	155.28087	48	33	0.419355	1	0	0	0	0	0	0	1	0	--	--		0	T				203	GBM-27-2526-TP	p.D546D	C	CAAGTCCGGACGGTAAAGCTG	NM_001371	NP_001362	38750809			0			15	2238	+	T	T			Silent							
DNAH8	0	broad.mit.edu	GRCh37	6	38998047	38998047	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359357.3:c.13352C>G	p.Pro4451Arg	p.P4451R	ENST00000359357		4451	cCt/cGt	0			1			G	P/R	uc003ooe.1	protein_coding	YES				13352/13473									skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21	c.(13351-13353)CCT>CGT			Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229	dynein, axonemal, heavy polypeptide 8				ENSP00000352312		91/91									COSM3411077,COSM3411078	91/91	.		ENST00000359357	Transcript						ENSG00000124721	g.chr6:38998047C>G	2952			MODERATE		4.72	high	getma.org/?cm=msa&ty=f&p=DYH8_HUMAN&rb=3792&re=4488&var=P4451R	getma.org/pdb.php?prot=DYH8_HUMAN&from=3792&to=4488&var=P4451R	getma.org/?cm=var&var=hg19,6,38998047,C,G&fts=all	P4451R	--	--	1																																			1,1	1		probably_damaging(1)	p.P4451R	NM_001371	NP_001362			1,1	DYH8_HUMAN	DNAH8	HGNC							91	13952	+			UPI00003677EB						SNV	DNAH8,missense_variant,p.Pro4656Arg,ENST00000327475,NM_001206927.1;DNAH8,missense_variant,p.Pro4451Arg,ENST00000359357,;DNAH8,missense_variant,p.Pro4415Arg,ENST00000441566,;	uc003ooe.1	c.13352C>G	13606/13860	4	4			c.13352C>G						6	SNP	c.(13351-13353)CCT>CGT	23	23			skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21	Broad	dynein, axonemal, heavy polypeptide 8			38998047		0.507	ENSG00000124721	4525	g.chr6:38998047C>G					p.P4451H(SNU81-Tumor)	2979		p.P4451H(SNU81-Tumor)	2979	-39.746282	KEEP	1	2	-1	87	121	1	2	-1	7.51475	87	121	0.01676	1	0	0	0	0	1	0	0	0	--	--		0	G				229	GBM-32-1977-TP	p.P4451R	C	TATGTGTGTCCTATTTACAAG	NM_001371	NP_001362	38998047			0			91	13952	+	G	G			Missense_Mutation							
DNAH8	0	broad.mit.edu	GRCh37	6	38773311	38773311	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-32-4213-01	TCGA-32-4213-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359357.3:c.2438delA	p.Asp813AlafsTer7	p.D813Afs*7	ENST00000359357		813	gAc/gc	0			1			-	D/X	uc003ooe.1	protein_coding	YES				2438/13473									skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21	c.(2437-2439)GACfs			hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229	dynein, axonemal, heavy polypeptide 8				ENSP00000352312		21/91										21/91	.		ENST00000359357	Transcript						ENSG00000124721	g.chr6:38773311delA	2952			HIGH								--	--	1																																				1			p.D813fs	NM_001371	NP_001362				DYH8_HUMAN	DNAH8	HGNC							21	3038	+			UPI00003677EB						deletion	DNAH8,frameshift_variant,p.Asp1018AlafsTer7,ENST00000327475,NM_001206927.1;DNAH8,frameshift_variant,p.Asp813AlafsTer7,ENST00000359357,;DNAH8,frameshift_variant,p.Asp813AlafsTer7,ENST00000441566,;DNAH8,frameshift_variant,p.Asp1030AlafsTer7,ENST00000449981,;	uc003ooe.1	c.2438delA	2692/13860	5	5			c.2438delA						6	DEL	c.(2437-2439)GACfs	28	28			skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21	Broad	dynein, axonemal, heavy polypeptide 8			38773311		0.308	ENSG00000124721	4525	g.chr6:38773311delA						2979			2979														0.29	1	1	0	1	0	0	0	0	0	--	--		0	-				247	GBM-32-4213-TP	p.D813fs	A	GAAAACAATGACTATGAAGCT	NM_001371	NP_001362	38773311			0			21	3038	+	-	-			Frame_Shift_Del							
DNAH8	0	broad.mit.edu	GRCh37	6	38903432	38903432	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-4928-01	TCGA-76-4928-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359357.3:c.10871A>G	p.Glu3624Gly	p.E3624G	ENST00000359357		3624	gAa/gGa	0			1			G	E/G	uc003ooe.1	protein_coding	YES				10871/13473									skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21	c.(10870-10872)GAA>GGA			Pfam_domain:PF12781,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229,Coiled-coils_(Ncoils):Coil	dynein, axonemal, heavy polypeptide 8				ENSP00000352312		75/91									COSM3411074,COSM3411075,COSM3411076	75/91	.		ENST00000359357	Transcript						ENSG00000124721	g.chr6:38903432A>G	2952			MODERATE		2.885	medium	getma.org/?cm=msa&ty=f&p=DYH8_HUMAN&rb=3431&re=3661&var=E3624G	getma.org/pdb.php?prot=DYH8_HUMAN&from=3431&to=3661&var=E3624G	getma.org/?cm=var&var=hg19,6,38903432,A,G&fts=all	E3624G	--	--	1																																		DNAH8_uc003oog.1_Missense_Mutation_p.E73G|uc003oof.1_Intron	1,1,1	1		probably_damaging(0.991)	p.E3624G	NM_001371	NP_001362			1,1,1	DYH8_HUMAN	DNAH8	HGNC							75	11471	+			UPI00003677EB						SNV	DNAH8,missense_variant,p.Glu3829Gly,ENST00000327475,NM_001206927.1;DNAH8,missense_variant,p.Glu3624Gly,ENST00000359357,;DNAH8,missense_variant,p.Glu3588Gly,ENST00000441566,;DNAH8,missense_variant,p.Glu3841Gly,ENST00000449981,;RP1-207H1.3,intron_variant,,ENST00000416948,;RP1-207H1.3,upstream_gene_variant,,ENST00000418399,;RP1-207H1.3,upstream_gene_variant,,ENST00000453417,;	uc003ooe.1	c.10871A>G	11125/13860	3	3			c.10871A>G						6	SNP	c.(10870-10872)GAA>GGA	13	13			skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21	Broad	dynein, axonemal, heavy polypeptide 8			38903432		0.308	ENSG00000124721	4525	g.chr6:38903432A>G						2979			2979	85.973418	KEEP	24	30	-1	161	207	24	30	-1	136.88552	161	207	0.126005	1	0	0	0	0	1	0	0	0	--	--		0	G			DNAH8_uc003oog.1_Missense_Mutation_p.E73G|uc003oof.1_Intron	268	GBM-76-4928-TP	p.E3624G	A	AAGATGAAAGAACTTGAAGAT	NM_001371	NP_001362	38903432			0			75	11471	+	G	G			Missense_Mutation							
DNAH8	1769		GRCh37	6	38850799	38850799	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000359357.3:c.7321T>G	p.Leu2441Val	p.L2441V	ENST00000359357		2441	Ttg/Gtg	0																																																																																																																																																																																																																																												
DNAH9	1770	broad.mit.edu	GRCh37	17	11648135	11648135	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0157-01	TCGA-06-0157-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262442.4:c.6133C>T	p.Arg2045Trp	p.R2045W	ENST00000262442	NM_001372.3	2045	Cgg/Tgg	0			1			T	R/W	uc002gne.2	protein_coding	YES	CCDS11160.1			6133/13461									skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20	c.(6133-6135)CGG>TGG			hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676,Pfam_domain:PF12774,Superfamily_domains:SSF52540	dynein, axonemal, heavy chain 9 isoform 2				ENSP00000262442		31/69	2.47E-05			0.000116				0.000127	rs773854763,COSM2150074	31/69	.		ENST00000262442	Transcript			cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000007174	g.chr17:11648135C>T	2953			MODERATE		4.11	high	getma.org/?cm=msa&ty=f&p=DYH9_HUMAN&rb=1832&re=2062&var=R2045W	getma.org/pdb.php?prot=DYH9_HUMAN&from=1832&to=2062&var=R2045W	getma.org/?cm=var&var=hg19,17,11648135,C,T&fts=all	R2045W	--	--	1																																		DNAH9_uc010coo.2_Missense_Mutation_p.R1339W	0,1	1		probably_damaging(1)	p.R2045W	NM_001372	NP_001363			0,1	DYH9_HUMAN	DNAH9	HGNC	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	Q92865_HUMAN		31	6201	+		Breast(5;0.0122)|all_epithelial(5;0.131)	UPI0000141BA2	2045			AAA 1 (By similarity).		SNV	DNAH9,missense_variant,p.Arg2045Trp,ENST00000262442,NM_001372.3;DNAH9,missense_variant,p.Arg2045Trp,ENST00000454412,;AC005701.1,upstream_gene_variant,,ENST00000584990,;	uc002gne.2	c.6133C>T	6201/13750	1	1			c.6133C>T						17	SNP	c.(6133-6135)CGG>TGG	9	9			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20	Broad	dynein, axonemal, heavy chain 9 isoform 2			11648135		0.557	ENSG00000007174	4526	g.chr17:11648135C>T	cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							81.559095	KEEP	19	22	-1	44	41	19	22	-1	84.711355	44	41	0.313725	1	0	0	0	0	1	0	0	0	--	--		0	T			DNAH9_uc010coo.2_Missense_Mutation_p.R1339W	28	GBM-06-0157-TP	p.R2045W	C	CTGGGGCCTACGGGCCATCAA	NM_001372	NP_001363	11648135	Q9NYC9	DYH9_HUMAN	0		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	31	6201	+	T	T		Breast(5;0.0122)|all_epithelial(5;0.131)	Missense_Mutation	2045			AAA 1 (By similarity).			
DNAH9	1770	broad.mit.edu	GRCh37	17	11523026	11523026	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0173-01	TCGA-06-0173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262442.4:c.1278G>T	p.Lys426Asn	p.K426N	ENST00000262442	NM_001372.3	426	aaG/aaT	0			1			T	K/N	uc002gne.2	protein_coding	YES	CCDS11160.1			1278/13461									skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20	c.(1276-1278)AAG>AAT			hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676,Pfam_domain:PF08385	dynein, axonemal, heavy chain 9 isoform 2				ENSP00000262442		Jun-69									COSM2150382	Jun-69	.		ENST00000262442	Transcript			cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000007174	g.chr17:11523026G>T	2953			MODERATE		1.24	low	getma.org/?cm=msa&ty=f&p=DYH9_HUMAN&rb=210&re=791&var=K426N	NA	getma.org/?cm=var&var=hg19,17,11523026,G,T&fts=all	K426N	--	--	1																																			1	1		benign(0.026)	p.K426N	NM_001372	NP_001363			1	DYH9_HUMAN	DNAH9	HGNC	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	Q92865_HUMAN		6	1346	+		Breast(5;0.0122)|all_epithelial(5;0.131)	UPI0000141BA2	426			Stem (By similarity).		SNV	DNAH9,missense_variant,p.Lys426Asn,ENST00000262442,NM_001372.3;DNAH9,missense_variant,p.Lys426Asn,ENST00000454412,;DNAH9,non_coding_transcript_exon_variant,,ENST00000579406,;DNAH9,non_coding_transcript_exon_variant,,ENST00000585197,;	uc002gne.2	c.1278G>T	1346/13750	2	2			c.1278G>T						17	SNP	c.(1276-1278)AAG>AAT	22	22			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20	Broad	dynein, axonemal, heavy chain 9 isoform 2			11523026		0.502	ENSG00000007174	4526	g.chr17:11523026G>T	cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							97.528511	KEEP	13	33	0.282608696	82	67	13	33	0.282608696	109.32337	82	67	0.226744	1	0	0	0	0	1	0	0	0	--	--		0	T				36	GBM-06-0173-TP	p.K426N	G	AGGAAGTCAAGGAATGGGATT	NM_001372	NP_001363	11523026	Q9NYC9	DYH9_HUMAN	0		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	6	1346	+	T	T		Breast(5;0.0122)|all_epithelial(5;0.131)	Missense_Mutation	426			Stem (By similarity).			
DNAH9	0	broad.mit.edu	GRCh37	17	11757746	11757749	+	splice_donor_variant,intron_variant	Splice_Site	DEL	GTGA	GTGA	-			TCGA-19-2629-01	TCGA-19-2629-01	GTGA	GTGA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262442.4:c.9933+5_9933+8delGTGA		p.X3311_splice	ENST00000262442	NM_001372.3			0			1			-		uc002gne.2	protein_coding	YES	CCDS11160.1			9933/13461									skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20	c.e50+1				dynein, axonemal, heavy chain 9 isoform 2				ENSP00000262442													.		ENST00000262442	Transcript			cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000007174	g.chr17:11757746_11757749delGTGA	2953	4		HIGH	50/68							--	--	1																																		DNAH9_uc010coo.2_Splice_Site_p.A2605_splice		1			p.A3311_splice	NM_001372	NP_001363				DYH9_HUMAN	DNAH9	HGNC	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	Q92865_HUMAN		50	10001	+		Breast(5;0.0122)|all_epithelial(5;0.131)	UPI0000141BA2						deletion	DNAH9,splice_donor_variant,,ENST00000262442,NM_001372.3;DNAH9,splice_donor_variant,,ENST00000454412,;DNAH9,splice_donor_variant,,ENST00000579703,;DNAH9,splice_donor_variant,,ENST00000578834,;	uc002gne.2	c.9933_splice	-/13750	5	5			c.9933_splice						17	DEL	c.e50+1	18	18			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20	Broad	dynein, axonemal, heavy chain 9 isoform 2			11757749		0.515	ENSG00000007174	4526	g.chr17:11757746_11757749delGTGA	cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity																				0.18	1	1	0	1	0	0	0	0	1	--	--		0	-			DNAH9_uc010coo.2_Splice_Site_p.A2605_splice	166	GBM-19-2629-TP	p.A3311_splice	GTGA	CAAGATCGCTGTGAGTGACCCCAG	NM_001372	NP_001363	11757746	Q9NYC9	DYH9_HUMAN	0		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	50	10001	+	-	-		Breast(5;0.0122)|all_epithelial(5;0.131)	Splice_Site							
DNAH9	0	broad.mit.edu	GRCh37	17	11865572	11865572	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-4068-01	TCGA-19-4068-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262442.4:c.13232A>G	p.Gln4411Arg	p.Q4411R	ENST00000262442	NM_001372.3	4411	cAg/cGg	0			1			G	Q/R	uc002gne.2	protein_coding	YES	CCDS11160.1			13232/13461									skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20	c.(13231-13233)CAG>CGG			hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676,Pfam_domain:PF03028	dynein, axonemal, heavy chain 9 isoform 2				ENSP00000262442		68/69									COSM1204154	68/69	.		ENST00000262442	Transcript			cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000007174	g.chr17:11865572A>G	2953			MODERATE		1.535	low	getma.org/?cm=msa&ty=f&p=DYH9_HUMAN&rb=3782&re=4485&var=Q4411R	getma.org/pdb.php?prot=DYH9_HUMAN&from=3782&to=4485&var=Q4411R	getma.org/?cm=var&var=hg19,17,11865572,A,G&fts=all	Q4411R	--	--	1																																		DNAH9_uc010coo.2_Missense_Mutation_p.Q3629R|DNAH9_uc002gnf.2_Missense_Mutation_p.Q723R	1	1		possibly_damaging(0.806)	p.Q4411R	NM_001372	NP_001363			1	DYH9_HUMAN	DNAH9	HGNC	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	Q92865_HUMAN		68	13300	+		Breast(5;0.0122)|all_epithelial(5;0.131)	UPI0000141BA2	4411					SNV	DNAH9,missense_variant,p.Gln4411Arg,ENST00000262442,NM_001372.3;DNAH9,missense_variant,p.Gln4335Arg,ENST00000454412,;DNAH9,missense_variant,p.Gln723Arg,ENST00000608377,NM_004662.2;RP11-1096G20.5,intron_variant,,ENST00000580270,;DNAH9,splice_region_variant,,ENST00000396001,;	uc002gne.2	c.13232A>G	13300/13750	3	3			c.13232A>G						17	SNP	c.(13231-13233)CAG>CGG	10	10			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20	Broad	dynein, axonemal, heavy chain 9 isoform 2			11865572		0.473	ENSG00000007174	4526	g.chr17:11865572A>G	cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							-23.485653	KEEP	0	4	-1	60	74	0	4	-1	6.543955	60	74	0.025	1	0	0	0	0	1	0	0	0	--	--		0	G			DNAH9_uc010coo.2_Missense_Mutation_p.Q3629R|DNAH9_uc002gnf.2_Missense_Mutation_p.Q723R	168	GBM-19-4068-TP	p.Q4411R	A	TGGGACACACAGGTAAAGCTT	NM_001372	NP_001363	11865572	Q9NYC9	DYH9_HUMAN	0		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	68	13300	+	G	G		Breast(5;0.0122)|all_epithelial(5;0.131)	Missense_Mutation	4411						
DNAH9	0	broad.mit.edu	GRCh37	17	11572540	11572540	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01	TCGA-19-5958-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262442.4:c.2891C>T	p.Pro964Leu	p.P964L	ENST00000262442	NM_001372.3	964	cCa/cTa	0			1			T	P/L	uc002gne.2	protein_coding	YES	CCDS11160.1			2891/13461									skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20	c.(2890-2892)CCA>CTA			hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676	dynein, axonemal, heavy chain 9 isoform 2				ENSP00000262442		16/69									COSM2156825	16/69	.		ENST00000262442	Transcript			cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000007174	g.chr17:11572540C>T	2953			MODERATE		2.74	medium	getma.org/?cm=msa&ty=f&p=DYH9_HUMAN&rb=792&re=991&var=P964L	NA	getma.org/?cm=var&var=hg19,17,11572540,C,T&fts=all	P964L	--	--	1																																		DNAH9_uc010coo.2_Missense_Mutation_p.P258L	1	1		benign(0.03)	p.P964L	NM_001372	NP_001363			1	DYH9_HUMAN	DNAH9	HGNC	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	Q92865_HUMAN		16	2959	+		Breast(5;0.0122)|all_epithelial(5;0.131)	UPI0000141BA2	964			Stem (By similarity).		SNV	DNAH9,missense_variant,p.Pro964Leu,ENST00000262442,NM_001372.3;DNAH9,missense_variant,p.Pro964Leu,ENST00000454412,;	uc002gne.2	c.2891C>T	2959/13750	2	2			c.2891C>T						17	SNP	c.(2890-2892)CCA>CTA	22	22			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20	Broad	dynein, axonemal, heavy chain 9 isoform 2			11572540		0.527	ENSG00000007174	4526	g.chr17:11572540C>T	cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							116.319865	KEEP	32	14	-1	37	34	32	14	-1	117.894469	37	34	0.372727	1	0	0	0	0	1	0	0	0	--	--		0	T			DNAH9_uc010coo.2_Missense_Mutation_p.P258L	176	GBM-19-5958-TP	p.P964L	C	TCTCTGGTGCCACGGCTTTCC	NM_001372	NP_001363	11572540	Q9NYC9	DYH9_HUMAN	0		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	16	2959	+	T	T		Breast(5;0.0122)|all_epithelial(5;0.131)	Missense_Mutation	964			Stem (By similarity).			
DNAH9	0	broad.mit.edu	GRCh37	17	11696846	11696846	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-26-1442-01	TCGA-26-1442-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262442.4:c.8088T>C	p.Cys2696=	p.C2696=	ENST00000262442	NM_001372.3	2696	tgT/tgC	0			1			C	C	uc002gne.2	protein_coding	YES	CCDS11160.1			8088/13461									skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20	c.(8086-8088)TGT>TGC			hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676,Pfam_domain:PF12775,Superfamily_domains:SSF52540	dynein, axonemal, heavy chain 9 isoform 2				ENSP00000262442		42/69									COSM2156891	42/69	.		ENST00000262442	Transcript			cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000007174	g.chr17:11696846T>C	2953			LOW								--	--	1																																		DNAH9_uc010coo.2_Silent_p.C1990C	1	1			p.C2696C	NM_001372	NP_001363			1	DYH9_HUMAN	DNAH9	HGNC	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	Q92865_HUMAN		42	8156	+		Breast(5;0.0122)|all_epithelial(5;0.131)	UPI0000141BA2	2696					SNV	DNAH9,synonymous_variant,p.=,ENST00000262442,NM_001372.3;DNAH9,synonymous_variant,p.=,ENST00000454412,;	uc002gne.2	c.8088T>C	8156/13750	4	4			c.8088T>C						17	SNP	c.(8086-8088)TGT>TGC	48	48			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20	Broad	dynein, axonemal, heavy chain 9 isoform 2			11696846		0.388	ENSG00000007174	4526	g.chr17:11696846T>C	cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							116.526899	KEEP	22	19	-1	17	16	22	19	-1	116.698721	17	16	0.557377	1	0	0	0	0	0	0	1	0	--	--		0	C			DNAH9_uc010coo.2_Silent_p.C1990C	180	GBM-26-1442-TP	p.C2696C	T	CAGTGGAATGTGTGAAATCCA	NM_001372	NP_001363	11696846	Q9NYC9	DYH9_HUMAN	0		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	42	8156	+	C	C		Breast(5;0.0122)|all_epithelial(5;0.131)	Silent	2696						
DNAH9	0	broad.mit.edu	GRCh37	17	11672470	11672470	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1836-01	TCGA-27-1836-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262442.4:c.7376G>A	p.Arg2459His	p.R2459H	ENST00000262442	NM_001372.3	2459	cGt/cAt	0			1			A	R/H	uc002gne.2	protein_coding	YES	CCDS11160.1			7376/13461									skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20	c.(7375-7377)CGT>CAT			hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676,Gene3D:3.40.50.300,Pfam_domain:PF12775,Superfamily_domains:SSF52540	dynein, axonemal, heavy chain 9 isoform 2				ENSP00000262442		38/69	2.47E-05	0.000192				1.50E-05			rs762156853,COSM3402602	38/69	.		ENST00000262442	Transcript			cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	ENSG00000007174	g.chr17:11672470G>A	2953			MODERATE		4.58	high	getma.org/?cm=msa&ty=f&p=DYH9_HUMAN&rb=2439&re=2710&var=R2459H	getma.org/pdb.php?prot=DYH9_HUMAN&from=2439&to=2710&var=R2459H	getma.org/?cm=var&var=hg19,17,11672470,G,A&fts=all	R2459H	--	--	1																																		DNAH9_uc010coo.2_Missense_Mutation_p.R1753H	0,1	1		probably_damaging(0.973)	p.R2459H	NM_001372	NP_001363			0,1	DYH9_HUMAN	DNAH9	HGNC	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	Q92865_HUMAN		38	7444	+		Breast(5;0.0122)|all_epithelial(5;0.131)	UPI0000141BA2	2459			AAA 3 (By similarity).		SNV	DNAH9,missense_variant,p.Arg2459His,ENST00000262442,NM_001372.3;DNAH9,missense_variant,p.Arg2459His,ENST00000454412,;	uc002gne.2	c.7376G>A	7444/13750	2	2			c.7376G>A						17	SNP	c.(7375-7377)CGT>CAT	38	38			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20	Broad	dynein, axonemal, heavy chain 9 isoform 2			11672470		0.612	ENSG00000007174	4526	g.chr17:11672470G>A	cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity							101.259446	KEEP	17	24	-1	74	66	17	24	-1	109.080517	74	66	0.26	1	0	0	0	0	1	0	0	0	--	--		0	A			DNAH9_uc010coo.2_Missense_Mutation_p.R1753H	195	GBM-27-1836-TP	p.R2459H	G	GAGACCATCCGTGTGTGCTAC	NM_001372	NP_001363	11672470	Q9NYC9	DYH9_HUMAN	0		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	38	7444	+	A	A		Breast(5;0.0122)|all_epithelial(5;0.131)	Missense_Mutation	2459			AAA 3 (By similarity).			
DNAH9	1770		GRCh37	17	11650946	11650946	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000262442.4:c.6473C>T	p.Ser2158Leu	p.S2158L	ENST00000262442	NM_001372.3	2158	tCa/tTa	0																																																																																																																																																																																																																																												
DNAH9	1770		GRCh37	17	11757514	11757514	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000262442.4:c.9702C>A	p.His3234Gln	p.H3234Q	ENST00000262442	NM_001372.3	3234	caC/caA	0																																																																																																																																																																																																																																												
DNAI1	27019		GRCh37	9	34489407	34489407	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000242317.4:c.348T>A	p.Asp116Glu	p.D116E	ENST00000242317	NM_012144.3	116	gaT/gaA	0																																																																																																																																																																																																																																												
DNAI2	0	broad.mit.edu	GRCh37	17	72283178	72283178	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-4068-01	TCGA-19-4068-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311014.6:c.408C>T	p.Asp136=	p.D136=	ENST00000311014		136	gaC/gaT	0			1			T	D	uc002jkf.2	protein_coding		CCDS11697.1			408/1818									ovary(2)|central_nervous_system(1)	3	c.(406-408)GAC>GAT			hmmpanther:PTHR12442	dynein, axonemal, intermediate polypeptide 2				ENSP00000308312		14-Apr	2.47E-05	9.64E-05						0.000122	rs770624431,COSM2156450	14-Apr	.	Kartagener_syndrome	ENST00000311014	Transcript	1		cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	ENSG00000171595	g.chr17:72283178C>T	18744			LOW								--	--	1																																		DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_Intron	0,1				p.D136D	NM_023036	NP_075462			0,1	DNAI2_HUMAN	DNAI2	HGNC	Q9GZS0	DNAI2_HUMAN					4	507	+			UPI000013EC1D	136					SNV	DNAI2,synonymous_variant,p.=,ENST00000579490,;DNAI2,synonymous_variant,p.=,ENST00000446837,;DNAI2,synonymous_variant,p.=,ENST00000582036,NM_023036.4,NM_001172810.1;DNAI2,synonymous_variant,p.=,ENST00000311014,;DNAI2,intron_variant,,ENST00000307504,;DNAI2,intron_variant,,ENST00000579055,;	uc002jkf.2	c.408C>T	475/2236	2	2			c.408C>T						17	SNP	c.(406-408)GAC>GAT	35	35			ovary(2)|central_nervous_system(1)	3	Broad	dynein, axonemal, intermediate polypeptide 2			72283178	Kartagener_syndrome	0.507	ENSG00000171595	4528	g.chr17:72283178C>T	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity							74.937927	KEEP	11	17	-1	22	19	11	17	-1	75.429304	22	19	0.40625	1	0	0	0	0	0	0	1	0	--	--		0	T			DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_Intron	168	GBM-19-4068-TP	p.D136D	C	ATTTCAATGACGAGGAGGCCA	NM_023036	NP_075462	72283178	Q9GZS0	DNAI2_HUMAN	0			4	507	+	T	T			Silent	136						
DNAI2	0	broad.mit.edu	GRCh37	17	72308276	72308276	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-2518-01	TCGA-27-2518-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311014.6:c.1629G>A	p.Ala543=	p.A543=	ENST00000311014		543	gcG/gcA	0		A:0.0008	1	A:0		A	A	uc002jkf.2	protein_coding		CCDS11697.1			1629/1818									ovary(2)|central_nervous_system(1)	3	c.(1627-1629)GCG>GCA				dynein, axonemal, intermediate polypeptide 2		A:0		ENSP00000308312	A:0	14-Dec	0.000206	0.000595	8.75E-05			0.000275			rs201925425,COSM3403187	14-Dec	common_variant	Kartagener_syndrome	ENST00000311014	Transcript	1	A:0.0002	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	ENSG00000171595	g.chr17:72308276G>A	18744			LOW								--	--	1																																		DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_Intron|uc002jkh.1_5'Flank|DNAI2_uc002jki.2_RNA	0,1				p.A543A	NM_023036	NP_075462	A:0		0,1	DNAI2_HUMAN	DNAI2	HGNC	Q9GZS0	DNAI2_HUMAN					12	1728	+			UPI000013EC1D	543					SNV	DNAI2,synonymous_variant,p.=,ENST00000579490,;DNAI2,synonymous_variant,p.=,ENST00000446837,;DNAI2,synonymous_variant,p.=,ENST00000582036,NM_023036.4,NM_001172810.1;DNAI2,synonymous_variant,p.=,ENST00000311014,;DNAI2,intron_variant,,ENST00000307504,;AC103809.1,upstream_gene_variant,,ENST00000516976,;RP11-647F2.2,upstream_gene_variant,,ENST00000585167,;DNAI2,intron_variant,,ENST00000579055,;DNAI2,upstream_gene_variant,,ENST00000579312,;	uc002jkf.2	c.1629G>A	1696/2236	2	2			c.1629G>A						17	SNP	c.(1627-1629)GCG>GCA	34	34			ovary(2)|central_nervous_system(1)	3	Broad	dynein, axonemal, intermediate polypeptide 2			72308276	Kartagener_syndrome	0.617	ENSG00000171595	4528	g.chr17:72308276G>A	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity							0.56245	KEEP	5	0	-1	26	19	5	0	-1	7.99565	26	19	0.090909	1	0	0	0	0	0	0	1	0	--	--		0	A			DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_Intron|uc002jkh.1_5'Flank|DNAI2_uc002jki.2_RNA	198	GBM-27-2518-TP	p.A543A	G	ACCTGGAGGCGCTGGTCAGCA	NM_023036	NP_075462	72308276	Q9GZS0	DNAI2_HUMAN	0			12	1728	+	A	A			Silent	543						
DNAJA4	55466	broad.mit.edu	GRCh37	15	78567950	78567950	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0214-01	TCGA-06-0214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394855.3:c.844C>G	p.Gln282Glu	p.Q282E	ENST00000394855	NM_018602.3	282	Cag/Gag	0			1			G	Q/E	uc002bdj.1	protein_coding		CCDS45316.1			757/1194									skin(1)	1	c.(757-759)CAG>GAG			HAMAP:MF_01152,hmmpanther:PTHR24076,hmmpanther:PTHR24076:SF75,Gene3D:2.60.260.20,Superfamily_domains:SSF49493	DnaJ (Hsp40) homolog, subfamily A, member 4				ENSP00000339581		8-Jun									COSM3401941,COSM3401942	8-Jun	.		ENST00000343789	Transcript			protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	ENSG00000140403	g.chr15:78567950C>G	14885			MODERATE		0.665	neutral	getma.org/?cm=msa&ty=f&p=DNJA4_HUMAN&rb=202&re=257&var=Q253E	getma.org/pdb.php?prot=DNJA4_HUMAN&from=202&to=257&var=Q253E	getma.org/?cm=var&var=hg19,15,78567950,C,G&fts=all	Q253E	--	--	1																																		DNAJA4_uc002bdi.2_Missense_Mutation_p.Q282E|DNAJA4_uc002bdk.2_Missense_Mutation_p.Q226E|DNAJA4_uc002bdm.1_Missense_Mutation_p.Q37E	1,1			benign(0.254)	p.Q253E	NM_001130182	NP_001123654		tolerated(0.15)	1,1	DNJA4_HUMAN	DNAJA4	HGNC	Q8WW22	DNJA4_HUMAN			Q8N2A9_HUMAN,Q7Z4D5_HUMAN,C9JDE6_HUMAN		5	874	+			UPI0000129433	253					SNV	DNAJA4,missense_variant,p.Gln282Glu,ENST00000394855,NM_018602.3;DNAJA4,missense_variant,p.Gln253Glu,ENST00000394852,NM_001130182.1;DNAJA4,missense_variant,p.Gln253Glu,ENST00000343789,;DNAJA4,missense_variant,p.Gln226Glu,ENST00000446172,NM_001130183.1;WDR61,downstream_gene_variant,,ENST00000560807,;WDR61,downstream_gene_variant,,ENST00000558453,;DNAJA4,splice_region_variant,,ENST00000483802,;DNAJA4,3_prime_UTR_variant,,ENST00000440911,;DNAJA4,3_prime_UTR_variant,,ENST00000542636,;DNAJA4,non_coding_transcript_exon_variant,,ENST00000493321,;DNAJA4,upstream_gene_variant,,ENST00000480425,;DNAJA4,downstream_gene_variant,,ENST00000485075,;DNAJA4,downstream_gene_variant,,ENST00000423642,;	uc002bdj.1	c.757C>G	788/2961	3	3			c.757C>G						15	SNP	c.(757-759)CAG>GAG	64	64			skin(1)	1	Broad	DnaJ (Hsp40) homolog, subfamily A, member 4			78567950		0.413	ENSG00000140403	4532	g.chr15:78567950C>G	protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding							117.778963	KEEP	20	20	-1	47	39	20	20	-1	121.99689	47	39	0.299145	1	0	0	0	0	1	0	0	0	--	--		0	G			DNAJA4_uc002bdi.2_Missense_Mutation_p.Q282E|DNAJA4_uc002bdk.2_Missense_Mutation_p.Q226E|DNAJA4_uc002bdm.1_Missense_Mutation_p.Q37E	50	GBM-06-0214-TP	p.Q253E	C	TAGTGTCTTTCAGAGACGAGG	NM_001130182	NP_001123654	78567950	Q8WW22	DNJA4_HUMAN	0			5	874	+	G	G			Missense_Mutation	253						
DNAJB11	51726	broad.mit.edu	GRCh37	3	186302367	186302367	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0157-01	TCGA-06-0157-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000439351.1:c.1002del	p.Ala335ArgfsTer9	p.A335Rfs*9	ENST00000439351		334	gAa/ga	0			1			-	E/X	uc003fqi.2	protein_coding		CCDS3277.1			1001/1077									ovary(1)|lung(1)	2	c.(1000-1002)GAAfs			Pfam_domain:PF01556,hmmpanther:PTHR24077:SF210,hmmpanther:PTHR24077	DnaJ (Hsp40) homolog, subfamily B, member 11				ENSP00000265028		10-Sep									COSM2150048	10-Sep	.		ENST00000265028	Transcript			protein folding	endoplasmic reticulum lumen	heat shock protein binding	ENSG00000090520	g.chr3:186302367delA	14889	1		HIGH								--	--	1																																			1				p.E334fs	NM_016306	NP_057390			1	DJB11_HUMAN	DNAJB11	HGNC	Q9UBS4	DJB11_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)	B3KW63_HUMAN		9	1221	+	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		UPI0000001BF7	334					deletion	DNAJB11,frameshift_variant,p.Ala335ArgfsTer9,ENST00000439351,;DNAJB11,frameshift_variant,p.Ala335ArgfsTer9,ENST00000265028,NM_016306.4;DNAJB11,frameshift_variant,p.Ala136ArgfsTer9,ENST00000418776,;DNAJB11,non_coding_transcript_exon_variant,,ENST00000495390,;	uc003fqi.2	c.1001delA	1221/1688	5	5			c.1001delA						3	DEL	c.(1000-1002)GAAfs	61	61			ovary(1)|lung(1)	2	Broad	DnaJ (Hsp40) homolog, subfamily B, member 11			186302367		0.303	ENSG00000090520	4534	g.chr3:186302367delA	protein folding	endoplasmic reticulum lumen	heat shock protein binding																				0.41	1	1	0	1	0	0	0	0	0	--	--		0	-				28	GBM-06-0157-TP	p.E334fs	A	TTAACAGAGGAAGCGAGAGAA	NM_016306	NP_057390	186302367	Q9UBS4	DJB11_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)	9	1221	+	-	-	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		Frame_Shift_Del	334						
DNAJB11	51726		GRCh37	3	186302253	186302253	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000439351.1:c.887G>C	p.Gly296Ala	p.G296A	ENST00000439351		296	gGa/gCa	0																																																																																																																																																																																																																																												
DNAJB3	414061		GRCh37	2	234652528	234652528	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000449667.1:n.134G>A		p.*45*	ENST00000449667				0																																																																																																																																																																																																																																												
DNAJB4	0	broad.mit.edu	GRCh37	1	78470832	78470832	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-2629-01	TCGA-19-2629-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370763.5:c.38A>G	p.Lys13Arg	p.K13R	ENST00000370763	NM_007034.3	13	aAa/aGa	0			1			G	K/R	uc001dij.2	protein_coding	YES	CCDS684.1			38/1014										0	c.(37-39)AAA>AGA			PROSITE_profiles:PS50076,hmmpanther:PTHR24077,hmmpanther:PTHR24077:SF223,Pfam_domain:PF00226,Gene3D:1.10.287.110,SMART_domains:SM00271,Superfamily_domains:SSF46565,Prints_domain:PR00625	DnaJ (Hsp40) homolog, subfamily B, member 4				ENSP00000359799		3-Jan									COSM2156303	3-Jan	.		ENST00000370763	Transcript			protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding	ENSG00000162616	g.chr1:78470832A>G	14886			MODERATE		-1.08	neutral	getma.org/?cm=msa&ty=f&p=DNJB4_HUMAN&rb=4&re=65&var=K13R	getma.org/pdb.php?prot=DNJB4_HUMAN&from=4&to=65&var=K13R	getma.org/?cm=var&var=hg19,1,78470832,A,G&fts=all	K13R	--	--	1																																		DNAJB4_uc010orn.1_Intron	1	1		benign(0.039)	p.K13R	NM_007034	NP_008965		tolerated(0.91)	1	DNJB4_HUMAN	DNAJB4	HGNC	Q9UDY4	DNJB4_HUMAN			C9JUL4_HUMAN,B4DNN2_HUMAN		1	197	+			UPI000000164F	13			J.		SNV	DNAJB4,missense_variant,p.Lys13Arg,ENST00000370763,NM_007034.3;DNAJB4,missense_variant,p.Lys13Arg,ENST00000426517,;RP11-386I14.4,upstream_gene_variant,,ENST00000608684,;DNAJB4,non_coding_transcript_exon_variant,,ENST00000476396,;DNAJB4,intron_variant,,ENST00000487931,;DNAJB4,intron_variant,,ENST00000484662,;DNAJB4,intron_variant,,ENST00000477671,;GIPC2,intron_variant,,ENST00000476882,;	uc001dij.2	c.38A>G	295/2988	3	3			c.38A>G						1	SNP	c.(37-39)AAA>AGA	13	13				0	Broad	DnaJ (Hsp40) homolog, subfamily B, member 4			78470832		0.368	ENSG00000162616	4540	g.chr1:78470832A>G	protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding							112.952617	KEEP	21	23	-1	85	100	21	23	-1	131.756936	85	100	0.192488	1	0	0	0	0	1	0	0	0	--	--		0	G			DNAJB4_uc010orn.1_Intron	166	GBM-19-2629-TP	p.K13R	A	GGAATTGAGAAAGGAGCTTCA	NM_007034	NP_008965	78470832	Q9UDY4	DNJB4_HUMAN	0			1	197	+	G	G			Missense_Mutation	13			J.			
DNAJB4	0	broad.mit.edu	GRCh37	1	78478954	78478954	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-26-1442-01	TCGA-26-1442-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370763.5:c.431G>C	p.Arg144Thr	p.R144T	ENST00000370763	NM_007034.3	144	aGa/aCa	0			1			C	R/T	uc001dij.2	protein_coding	YES	CCDS684.1			431/1014										0	c.(430-432)AGA>ACA			hmmpanther:PTHR24077,hmmpanther:PTHR24077:SF223	DnaJ (Hsp40) homolog, subfamily B, member 4				ENSP00000359799		3-Feb									COSM3401021	3-Feb	.		ENST00000370763	Transcript			protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding	ENSG00000162616	g.chr1:78478954G>C	14886			MODERATE		1.18	low	getma.org/?cm=msa&ty=f&p=DNJB4_HUMAN&rb=66&re=248&var=R144T	NA	getma.org/?cm=var&var=hg19,1,78478954,G,C&fts=all	R144T	--	--	1																																		DNAJB4_uc010orn.1_Missense_Mutation_p.R29T	1	1		benign(0.005)	p.R144T	NM_007034	NP_008965		tolerated(0.2)	1	DNJB4_HUMAN	DNAJB4	HGNC	Q9UDY4	DNJB4_HUMAN			C9JUL4_HUMAN,B4DNN2_HUMAN		2	590	+			UPI000000164F	144					SNV	DNAJB4,missense_variant,p.Arg144Thr,ENST00000370763,NM_007034.3;DNAJB4,missense_variant,p.Arg144Thr,ENST00000426517,;DNAJB4,non_coding_transcript_exon_variant,,ENST00000487931,;DNAJB4,non_coding_transcript_exon_variant,,ENST00000484662,;DNAJB4,non_coding_transcript_exon_variant,,ENST00000477671,;DNAJB4,intron_variant,,ENST00000476396,;GIPC2,intron_variant,,ENST00000476882,;	uc001dij.2	c.431G>C	688/2988	3	3			c.431G>C						1	SNP	c.(430-432)AGA>ACA	4	4				0	Broad	DnaJ (Hsp40) homolog, subfamily B, member 4			78478954		0.413	ENSG00000162616	4540	g.chr1:78478954G>C	protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding							3.257305	KEEP	4	6	-1	65	50	4	6	-1	24.691383	65	50	0.082645	1	0	0	0	0	1	0	0	0	--	--		0	C			DNAJB4_uc010orn.1_Missense_Mutation_p.R29T	180	GBM-26-1442-TP	p.R144T	G	GGATATCCAAGAGACAGGAAT	NM_007034	NP_008965	78478954	Q9UDY4	DNJB4_HUMAN	0			2	590	+	C	C			Missense_Mutation	144						
DNAJB7	150353	broad.mit.edu	GRCh37	22	41257669	41257669	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-5408-01	TCGA-06-5408-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307221.4:c.330C>A	p.His110Gln	p.H110Q	ENST00000307221	NM_145174.1	110	caC/caA	0			1			T	H/Q	uc003azj.2	protein_coding	YES	CCDS14008.1			330/930								p.H110Q(1)	ovary(1)	1	c.(328-330)CAC>CAA			hmmpanther:PTHR24077,hmmpanther:PTHR24077:SF16,Superfamily_domains:SSF46565	DnaJ (Hsp40) homolog, subfamily B, member 7				ENSP00000307197		1-Jan									COSM3405688	1-Jan	.		ENST00000307221	Transcript			protein folding		heat shock protein binding|unfolded protein binding	ENSG00000172404	g.chr22:41257669G>T	24986			MODERATE		2.14	medium	getma.org/?cm=msa&ty=f&p=DNJB7_HUMAN&rb=67&re=249&var=H110Q	NA	getma.org/?cm=var&var=hg19,22,41257669,G,T&fts=all	H110Q	--	--	1																																		XPNPEP3_uc011aox.1_Intron|XPNPEP3_uc003azh.2_Intron|XPNPEP3_uc003azi.2_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azg.1_RNA|XPNPEP3_uc003azf.1_RNA|XPNPEP3_uc010gyh.1_5'Flank	1	1		benign(0.36)	p.H110Q	NM_145174	NP_660157		deleterious(0.04)	1	DNJB7_HUMAN	DNAJB7	HGNC	Q7Z6W7	DNJB7_HUMAN					1	462	-			UPI000006FBAD	110					SNV	DNAJB7,missense_variant,p.His110Gln,ENST00000307221,NM_145174.1;XPNPEP3,intron_variant,,ENST00000357137,NM_022098.3;XPNPEP3,intron_variant,,ENST00000541156,;XPNPEP3,intron_variant,,ENST00000414396,;ST13,upstream_gene_variant,,ENST00000216218,NM_001278589.1,NM_003932.4;XPNPEP3,upstream_gene_variant,,ENST00000544094,;XPNPEP3,non_coding_transcript_exon_variant,,ENST00000482652,;XPNPEP3,upstream_gene_variant,,ENST00000465258,;XPNPEP3,intron_variant,,ENST00000428799,;XPNPEP3,intron_variant,,ENST00000417688,;	uc003azj.2	c.330C>A	462/2578	2	2			c.330C>A						22	SNP	c.(328-330)CAC>CAA	33	33		p.H110Q(1)	ovary(1)	1	Broad	DnaJ (Hsp40) homolog, subfamily B, member 7			41257669		0.388	ENSG00000172404	4543	g.chr22:41257669G>T	protein folding		heat shock protein binding|unfolded protein binding							255.897328	KEEP	43	34	0.558441558	7	9	43	34	0.558441558	264.69199	7	9	0.822222	1	0	0	0	0	1	0	0	0	--	--		0	T			XPNPEP3_uc011aox.1_Intron|XPNPEP3_uc003azh.2_Intron|XPNPEP3_uc003azi.2_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azg.1_RNA|XPNPEP3_uc003azf.1_RNA|XPNPEP3_uc010gyh.1_5'Flank	92	GBM-06-5408-TP	p.H110Q	G	CTTCAAAGAAGTGAAAAGAAA	NM_145174	NP_660157	41257669	Q7Z6W7	DNJB7_HUMAN	0			1	462	-	T	T			Missense_Mutation	110						
DNAJB7	0	broad.mit.edu	GRCh37	22	41257115	41257115	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-32-1982-01	TCGA-32-1982-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307221.4:c.884delA	p.Lys295ArgfsTer25	p.K295Rfs*25	ENST00000307221	NM_145174.1	295	aAg/ag	0			1			-	K/X	uc003azj.2	protein_coding	YES	CCDS14008.1			884/930									ovary(1)	1	c.(883-885)AAGfs			Low_complexity_(Seg):seg	DnaJ (Hsp40) homolog, subfamily B, member 7				ENSP00000307197		1-Jan									COSM1416454	1-Jan	.		ENST00000307221	Transcript			protein folding		heat shock protein binding|unfolded protein binding	ENSG00000172404	g.chr22:41257115delT	24986			HIGH								--	--	1																																		XPNPEP3_uc011aox.1_Intron|XPNPEP3_uc003azh.2_Intron|XPNPEP3_uc003azi.2_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azg.1_Intron|XPNPEP3_uc003azf.1_Intron|XPNPEP3_uc010gyh.1_5'Flank	1	1			p.K295fs	NM_145174	NP_660157			1	DNJB7_HUMAN	DNAJB7	HGNC	Q7Z6W7	DNJB7_HUMAN					1	1016	-			UPI000006FBAD	295			Poly-Lys.		deletion	DNAJB7,frameshift_variant,p.Lys295ArgfsTer25,ENST00000307221,NM_145174.1;XPNPEP3,intron_variant,,ENST00000357137,NM_022098.3;XPNPEP3,intron_variant,,ENST00000541156,;XPNPEP3,intron_variant,,ENST00000414396,;ST13,upstream_gene_variant,,ENST00000216218,NM_001278589.1,NM_003932.4;XPNPEP3,upstream_gene_variant,,ENST00000544094,;XPNPEP3,intron_variant,,ENST00000482652,;XPNPEP3,upstream_gene_variant,,ENST00000465258,;XPNPEP3,intron_variant,,ENST00000428799,;XPNPEP3,intron_variant,,ENST00000417688,;ST13,upstream_gene_variant,,ENST00000455824,;	uc003azj.2	c.884delA	1016/2578	5	5			c.884delA						22	DEL	c.(883-885)AAGfs	58	58			ovary(1)	1	Broad	DnaJ (Hsp40) homolog, subfamily B, member 7			41257115		0.378	ENSG00000172404	4543	g.chr22:41257115delT	protein folding		heat shock protein binding|unfolded protein binding																				0.04	1	1	0	1	0	0	0	0	0	--	--		0	-			XPNPEP3_uc011aox.1_Intron|XPNPEP3_uc003azh.2_Intron|XPNPEP3_uc003azi.2_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azg.1_Intron|XPNPEP3_uc003azf.1_Intron|XPNPEP3_uc010gyh.1_5'Flank	232	GBM-32-1982-TP	p.K295fs	T	TTTACGCTTCTTTTTTTTCCT	NM_145174	NP_660157	41257115	Q7Z6W7	DNJB7_HUMAN	0			1	1016	-	-	-			Frame_Shift_Del	295			Poly-Lys.			
DNAJB8	0	broad.mit.edu	GRCh37	3	128181904	128181904	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01	TCGA-27-1836-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319153.3:c.185G>A	p.Arg62His	p.R62H	ENST00000319153	NM_153330.3	62	cGc/cAc	0			1			T	R/H	uc003ekk.1	protein_coding		CCDS3048.1			185/699										0	c.(184-186)CGC>CAC			Gene3D:1.10.287.110,Pfam_domain:PF00226,Prints_domain:PR00625,PROSITE_patterns:PS00636,PROSITE_profiles:PS50076,hmmpanther:PTHR24077,hmmpanther:PTHR24077:SF242,Superfamily_domains:SSF46565	DnaJ homolog, subfamily B, member 8				ENSP00000316053		3-Mar	8.24E-06					1.50E-05			rs201659373,COSM3408203	3-Mar	.		ENST00000319153	Transcript			protein folding		heat shock protein binding|unfolded protein binding	ENSG00000179407	g.chr3:128181904C>T	23699			MODERATE		4.35	high	getma.org/?cm=msa&ty=f&p=DNJB8_HUMAN&rb=3&re=66&var=R62H	getma.org/pdb.php?prot=DNJB8_HUMAN&from=3&to=66&var=R62H	getma.org/?cm=var&var=hg19,3,128181904,C,T&fts=all	R62H	--	--	1																																		uc003ekl.1_5'Flank	0,1			probably_damaging(0.999)	p.R62H	NM_153330	NP_699161		deleterious(0)	0,1	DNJB8_HUMAN	DNAJB8	HGNC	Q8NHS0	DNJB8_HUMAN		GBM - Glioblastoma multiforme(114;0.177)			3	1846	-			UPI0000129437	62			J.		SNV	DNAJB8,missense_variant,p.Arg62His,ENST00000469083,;DNAJB8,missense_variant,p.Arg62His,ENST00000319153,NM_153330.3;DNAJB8-AS1,upstream_gene_variant,,ENST00000471626,;	uc003ekk.1	c.185G>A	1846/2465	2	2			c.185G>A						3	SNP	c.(184-186)CGC>CAC	41	41				0	Broad	DnaJ homolog, subfamily B, member 8			128181904		0.602	ENSG00000179407	4544	g.chr3:128181904C>T	protein folding		heat shock protein binding|unfolded protein binding							134.359531	KEEP	33	35	-1	96	75	33	35	-1	144.23721	96	75	0.267327	1	0	0	0	0	1	0	0	0	--	--		0	T			uc003ekl.1_5'Flank	195	GBM-27-1836-TP	p.R62H	C	ATACAGGGAGCGTTTCTTGGA	NM_153330	NP_699161	128181904	Q8NHS0	DNJB8_HUMAN	0		GBM - Glioblastoma multiforme(114;0.177)	3	1846	-	T	T			Missense_Mutation	62			J.			
DNAJC10	54431	broad.mit.edu	GRCh37	2	183584858	183584858	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0188-01	TCGA-06-0188-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264065.7:c.329G>A	p.Gly110Asp	p.G110D	ENST00000264065	NM_018981.2	110	gGc/gAc	0			1			A	G/D	uc002uow.1	protein_coding	YES	CCDS33345.1			329/2382									ovary(1)|large_intestine(1)|breast(1)|skin(1)	4	c.(328-330)GGC>GAC			hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF3,Gene3D:1.10.287.110,PIRSF_domain:PIRSF037293,Superfamily_domains:SSF46565,Prints_domain:PR00625	DnaJ (Hsp40) homolog, subfamily C, member 10				ENSP00000264065		24-Apr									COSM2150570	24-Apr	.		ENST00000264065	Transcript			apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	ENSG00000077232	g.chr2:183584858G>A	24637			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=DJC10_HUMAN&rb=98&re=129&var=G110D	getma.org/pdb.php?prot=DJC10_HUMAN&from=98&to=129&var=G110D	getma.org/?cm=var&var=hg19,2,183584858,G,A&fts=all	G110D	--	--	1																																		DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Missense_Mutation_p.G110D|DNAJC10_uc010fro.1_RNA	1	1		possibly_damaging(0.829)	p.G110D	NM_018981	NP_061854		deleterious(0.03)	1	DJC10_HUMAN	DNAJC10	HGNC	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		Q8N4C5_HUMAN		4	744	+			UPI000007376C	110					SNV	DNAJC10,missense_variant,p.Gly110Asp,ENST00000264065,NM_018981.2,NM_001271581.1;DNAJC10,missense_variant,p.Gly110Asp,ENST00000537515,;DNAJC10,non_coding_transcript_exon_variant,,ENST00000469118,;DNAJC10,missense_variant,p.Gly110Asp,ENST00000418559,;DNAJC10,non_coding_transcript_exon_variant,,ENST00000491074,;DNAJC10,non_coding_transcript_exon_variant,,ENST00000494462,;	uc002uow.1	c.329G>A	744/20129	1	1			c.329G>A						2	SNP	c.(328-330)GGC>GAC	49	49			ovary(1)|large_intestine(1)|breast(1)|skin(1)	4	Broad	DnaJ (Hsp40) homolog, subfamily C, member 10			183584858		0.308	ENSG00000077232	4547	g.chr2:183584858G>A	apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	Pancreas(56;860 1183 25669 35822 48585)			Pancreas(56;860 1183 25669 35822 48585)			123.917511	KEEP	30	22	-1	67	52	30	22	-1	128.565663	67	52	0.310345	1	0	0	0	0	1	0	0	0	--	--		0	A			DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Missense_Mutation_p.G110D|DNAJC10_uc010fro.1_RNA	41	GBM-06-0188-TP	p.G110D	G	AATCAAGGTGGCCAGTATGAA	NM_018981	NP_061854	183584858	Q8IXB1	DJC10_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		4	744	+	A	A			Missense_Mutation	110						
DNAJC10	0	broad.mit.edu	GRCh37	2	183597246	183597246	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-41-2575-01	TCGA-41-2575-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264065.7:c.826C>T	p.Arg276Ter	p.R276*	ENST00000264065	NM_018981.2	276	Cga/Tga	0			1			T	R/*	uc002uow.1	protein_coding	YES	CCDS33345.1			826/2382									ovary(1)|large_intestine(1)|breast(1)|skin(1)	4	c.(826-828)CGA>TGA			hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF3,PIRSF_domain:PIRSF037293,Superfamily_domains:SSF52833	DnaJ (Hsp40) homolog, subfamily C, member 10				ENSP00000264065		24-Oct									COSM3407390	24-Oct	.		ENST00000264065	Transcript			apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	ENSG00000077232	g.chr2:183597246C>T	24637			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,183597246,C,T&fts=all	R276*	--	--	1																																		DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Nonsense_Mutation_p.R276*|DNAJC10_uc010fro.1_Intron	1	1			p.R276*	NM_018981	NP_061854			1	DJC10_HUMAN	DNAJC10	HGNC	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		Q8N4C5_HUMAN		10	1241	+			UPI000007376C	276					SNV	DNAJC10,stop_gained,p.Arg276Ter,ENST00000264065,NM_018981.2,NM_001271581.1;DNAJC10,stop_gained,p.Arg276Ter,ENST00000537515,;DNAJC10,downstream_gene_variant,,ENST00000469118,;DNAJC10,stop_gained,p.Arg65Ter,ENST00000444005,;DNAJC10,non_coding_transcript_exon_variant,,ENST00000491074,;DNAJC10,non_coding_transcript_exon_variant,,ENST00000459930,;DNAJC10,intron_variant,,ENST00000418559,;DNAJC10,downstream_gene_variant,,ENST00000494462,;	uc002uow.1	c.826C>T	1241/20129	5	2			c.826C>T						2	SNP	c.(826-828)CGA>TGA	20	20			ovary(1)|large_intestine(1)|breast(1)|skin(1)	4	Broad	DnaJ (Hsp40) homolog, subfamily C, member 10			183597246		0.348	ENSG00000077232	4547	g.chr2:183597246C>T	apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	Pancreas(56;860 1183 25669 35822 48585)			Pancreas(56;860 1183 25669 35822 48585)			250.636605	KEEP	61	36	-1	68	75	61	36	-1	252.290353	68	75	0.402985	1	0	0	0	0	0	1	0	0	--	--		0	T			DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Nonsense_Mutation_p.R276*|DNAJC10_uc010fro.1_Intron	253	GBM-41-2575-TP	p.R276*	C	TTCACAGACACGACTCAGGCT	NM_018981	NP_061854	183597246	Q8IXB1	DJC10_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		10	1241	+	T	T			Nonsense_Mutation	276						
DNAJC11	0	broad.mit.edu	GRCh37	1	6704720	6704720	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01	TCGA-19-5954-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377577.5:c.995G>A	p.Gly332Glu	p.G332E	ENST00000377577	NM_018198.3	332	gGg/gAg	0			1			T	G/E	uc001aof.2	protein_coding	YES	CCDS87.1			995/1680									ovary(1)|skin(1)	2	c.(994-996)GGG>GAG			hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF159	DnaJ (Hsp40) homolog, subfamily C, member 11				ENSP00000366800		16-Oct									COSM2156729	16-Oct	.		ENST00000377577	Transcript			protein folding		heat shock protein binding|unfolded protein binding	ENSG00000007923	g.chr1:6704720C>T	25570			MODERATE		2.565	medium	getma.org/?cm=msa&ty=f&p=DJC11_HUMAN&rb=280&re=409&var=G332E	NA	getma.org/?cm=var&var=hg19,1,6704720,C,T&fts=all	G332E	--	--	1																																		DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Missense_Mutation_p.G332E|DNAJC11_uc010nzu.1_Missense_Mutation_p.G242E	1	1		benign(0.173)	p.G332E	NM_018198	NP_060668		deleterious(0)	1	DJC11_HUMAN	DNAJC11	HGNC	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	F5H1N1_HUMAN,B3KTC6_HUMAN		10	1101	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	UPI000020544B	332					SNV	DNAJC11,missense_variant,p.Gly332Glu,ENST00000377577,NM_018198.3;DNAJC11,missense_variant,p.Gly332Glu,ENST00000294401,;DNAJC11,missense_variant,p.Gly294Glu,ENST00000542246,;DNAJC11,missense_variant,p.Gly242Glu,ENST00000377573,;DNAJC11,intron_variant,,ENST00000451196,;DNAJC11,intron_variant,,ENST00000349363,;DNAJC11,downstream_gene_variant,,ENST00000426784,;DNAJC11,non_coding_transcript_exon_variant,,ENST00000465508,;DNAJC11,non_coding_transcript_exon_variant,,ENST00000472414,;DNAJC11,downstream_gene_variant,,ENST00000473993,;	uc001aof.2	c.995G>A	1119/3311	2	2			c.995G>A						1	SNP	c.(994-996)GGG>GAG	47	47			ovary(1)|skin(1)	2	Broad	DnaJ (Hsp40) homolog, subfamily C, member 11			6704720		0.562	ENSG00000007923	4548	g.chr1:6704720C>T	protein folding		heat shock protein binding|unfolded protein binding							31.505179	KEEP	6	7	-1	20	16	6	7	-1	33.659693	20	16	0.261905	1	0	0	0	0	1	0	0	0	--	--		0	T			DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Missense_Mutation_p.G332E|DNAJC11_uc010nzu.1_Missense_Mutation_p.G242E	174	GBM-19-5954-TP	p.G332E	C	CACCACCGTCCCAAAGAAGCC	NM_018198	NP_060668	6704720	Q9NVH1	DJC11_HUMAN	0		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	10	1101	-	T	T	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	Missense_Mutation	332						
DNAJC11	0	broad.mit.edu	GRCh37	1	6727803	6727804	+	frameshift_variant	Frame_Shift_Del	DEL	TC	TC	-			TCGA-28-5213-01	TCGA-28-5213-01	TC	TC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377577.5:c.343_344delGA	p.Glu115ArgfsTer25	p.E115Rfs*25	ENST00000377577	NM_018198.3	115	GAa/a	0			1			-	E/X	uc001aof.2	protein_coding	YES	CCDS87.1			343-344/1680									ovary(1)|skin(1)	2	c.(343-345)GAAfs			Low_complexity_(Seg):seg,hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF159	DnaJ (Hsp40) homolog, subfamily C, member 11				ENSP00000366800		16-Apr	0.048	0.0323	0.0457	0.0323	0.013	0.0424	0.0511	0.0997	rs374290353,COSM426618,COSM426619	16-Apr	common_variant		ENST00000377577	Transcript			protein folding		heat shock protein binding|unfolded protein binding	ENSG00000007923	g.chr1:6727803_6727804delTC	25570			HIGH								--	--	1																																		DNAJC11_uc010nzt.1_Frame_Shift_Del_p.E77fs|DNAJC11_uc001aog.2_Frame_Shift_Del_p.E115fs|DNAJC11_uc010nzu.1_Frame_Shift_Del_p.E25fs	0,1,1	1			p.E115fs	NM_018198	NP_060668			0,1,1	DJC11_HUMAN	DNAJC11	HGNC	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	F5H1N1_HUMAN,B3KTC6_HUMAN		4	449_450	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	UPI000020544B	115					deletion	DNAJC11,frameshift_variant,p.Glu115ArgfsTer25,ENST00000377577,NM_018198.3;DNAJC11,frameshift_variant,p.Glu115ArgfsTer25,ENST00000294401,;DNAJC11,frameshift_variant,p.Glu77ArgfsTer25,ENST00000542246,;DNAJC11,frameshift_variant,p.Glu25ArgfsTer25,ENST00000377573,;DNAJC11,frameshift_variant,p.Glu77ArgfsTer25,ENST00000349363,;DNAJC11,frameshift_variant,p.Glu91ArgfsTer25,ENST00000451196,;DNAJC11,frameshift_variant,p.Glu115ArgfsTer25,ENST00000426784,;DNAJC11,non_coding_transcript_exon_variant,,ENST00000473993,;DNAJC11,non_coding_transcript_exon_variant,,ENST00000485073,;DNAJC11,non_coding_transcript_exon_variant,,ENST00000460594,;DNAJC11,non_coding_transcript_exon_variant,,ENST00000469318,;DNAJC11,downstream_gene_variant,,ENST00000465911,;	uc001aof.2	c.343_344delGA	467-468/3311	5	5			c.343_344delGA						1	DEL	c.(343-345)GAAfs	24	24			ovary(1)|skin(1)	2	Broad	DnaJ (Hsp40) homolog, subfamily C, member 11			6727804		0.505	ENSG00000007923	4548	g.chr1:6727803_6727804delTC	protein folding		heat shock protein binding|unfolded protein binding																				0.06	1	1	0	1	0	0	0	0	0	--	--		0	-			DNAJC11_uc010nzt.1_Frame_Shift_Del_p.E77fs|DNAJC11_uc001aog.2_Frame_Shift_Del_p.E115fs|DNAJC11_uc010nzu.1_Frame_Shift_Del_p.E25fs	220	GBM-28-5213-TP	p.E115fs	TC	TCTCCTCTCTTCTCTCTCTCTC	NM_018198	NP_060668	6727803	Q9NVH1	DJC11_HUMAN	0		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	4	449_450	-	-	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	Frame_Shift_Del	115						
DNAJC11	0	broad.mit.edu	GRCh37	1	6705885	6705885	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-28-6450-01	TCGA-28-6450-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377577.5:c.858A>G	p.Arg286=	p.R286=	ENST00000377577	NM_018198.3	286	cgA/cgG	0			1			C	R	uc001aof.2	protein_coding	YES	CCDS87.1			858/1680									ovary(1)|skin(1)	2	c.(856-858)CGA>CGG			hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF159	DnaJ (Hsp40) homolog, subfamily C, member 11				ENSP00000366800		16-Aug									COSM3400964,COSM3400965	16-Aug	.		ENST00000377577	Transcript			protein folding		heat shock protein binding|unfolded protein binding	ENSG00000007923	g.chr1:6705885T>C	25570			LOW								--	--	1																																		DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Silent_p.R286R|DNAJC11_uc010nzu.1_Silent_p.R196R	1,1	1			p.R286R	NM_018198	NP_060668			1,1	DJC11_HUMAN	DNAJC11	HGNC	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	F5H1N1_HUMAN,B3KTC6_HUMAN		8	964	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	UPI000020544B	286					SNV	DNAJC11,synonymous_variant,p.=,ENST00000377577,NM_018198.3;DNAJC11,synonymous_variant,p.=,ENST00000294401,;DNAJC11,synonymous_variant,p.=,ENST00000542246,;DNAJC11,synonymous_variant,p.=,ENST00000377573,;DNAJC11,synonymous_variant,p.=,ENST00000426784,;DNAJC11,intron_variant,,ENST00000349363,;DNAJC11,intron_variant,,ENST00000451196,;DNAJC11,upstream_gene_variant,,ENST00000465508,;DNAJC11,downstream_gene_variant,,ENST00000473993,;DNAJC11,upstream_gene_variant,,ENST00000472414,;	uc001aof.2	c.858A>G	982/3311	3	3			c.858A>G						1	SNP	c.(856-858)CGA>CGG	64	64			ovary(1)|skin(1)	2	Broad	DnaJ (Hsp40) homolog, subfamily C, member 11			6705885		0.587	ENSG00000007923	4548	g.chr1:6705885T>C	protein folding		heat shock protein binding|unfolded protein binding							118.817831	KEEP	15	25	-1	15	14	15	25	-1	119.179164	15	14	0.583333	1	0	0	0	0	0	0	1	0	--	--		0	C			DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Silent_p.R286R|DNAJC11_uc010nzu.1_Silent_p.R196R	227	GBM-28-6450-TP	p.R286R	T	TTTTAGTGTCTCGGACGATGC	NM_018198	NP_060668	6705885	Q9NVH1	DJC11_HUMAN	0		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	8	964	-	C	C	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	Silent	286						
DNAJC13	23317		GRCh37	3	132217972	132217972	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000260818.6:c.4159T>A	p.Leu1387Ile	p.L1387I	ENST00000260818	NM_015268.3	1387	Tta/Ata	0																																																																																																																																																																																																																																												
DNAJC16	23341	broad.mit.edu	GRCh37	1	15888817	15888817	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-06-0152-01	TCGA-06-0152-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375847.3:c.1335A>C	p.Ser445=	p.S445=	ENST00000375847	NM_015291.2	445	tcA/tcC	0			1			C	S	uc001aws.2	protein_coding	YES	CCDS30606.1			1335/2349									urinary_tract(1)|lung(1)|kidney(1)	3	c.(1333-1335)TCA>TCC			hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF143	DnaJ (Hsp40) homolog, subfamily C, member 16				ENSP00000365007		15-Sep									COSM2149887	15-Sep	.		ENST00000375847	Transcript			cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	ENSG00000116138	g.chr1:15888817A>C	29157			LOW								--	--	1																																		DNAJC16_uc001awr.1_Silent_p.S445S|DNAJC16_uc001awt.2_Silent_p.S133S|DNAJC16_uc001awu.2_RNA	1	1			p.S445S	NM_015291	NP_056106			1	DJC16_HUMAN	DNAJC16	HGNC	Q9Y2G8	DJC16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	B3KMS3_HUMAN		9	1455	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	UPI000000DBDB	445			Cytoplasmic (Potential).		SNV	DNAJC16,synonymous_variant,p.=,ENST00000375847,NM_015291.2,NM_001287811.1;DNAJC16,synonymous_variant,p.=,ENST00000375849,;DNAJC16,synonymous_variant,p.=,ENST00000375838,;RP4-680D5.8,downstream_gene_variant,,ENST00000606186,;DNAJC16,non_coding_transcript_exon_variant,,ENST00000483270,;DNAJC16,upstream_gene_variant,,ENST00000479655,;DNAJC16,upstream_gene_variant,,ENST00000490811,;DNAJC16,synonymous_variant,p.=,ENST00000475133,;DNAJC16,upstream_gene_variant,,ENST00000472665,;	uc001aws.2	c.1335A>C	1499/6069	3	3			c.1335A>C						1	SNP	c.(1333-1335)TCA>TCC	58	58			urinary_tract(1)|lung(1)|kidney(1)	3	Broad	DnaJ (Hsp40) homolog, subfamily C, member 16			15888817		0.473	ENSG00000116138	4553	g.chr1:15888817A>C	cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding							347.458184	KEEP	63	67	-1	34	34	63	67	-1	351.209025	34	34	0.655367	1	0	0	0	0	0	0	1	0	--	--		0	C			DNAJC16_uc001awr.1_Silent_p.S445S|DNAJC16_uc001awt.2_Silent_p.S133S|DNAJC16_uc001awu.2_RNA	25	GBM-06-0152-TP	p.S445S	A	AAGGGAAATCAGCGGTAAGCC	NM_015291	NP_056106	15888817	Q9Y2G8	DJC16_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	9	1455	+	C	C		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	Silent	445			Cytoplasmic (Potential).			
DNAJC16	23341	broad.mit.edu	GRCh37	1	15870908	15870908	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375847.3:c.589G>A	p.Val197Met	p.V197M	ENST00000375847	NM_015291.2	197	Gtg/Atg	0			1			A	V/M	uc001aws.2	protein_coding	YES	CCDS30606.1			589/2349									urinary_tract(1)|lung(1)|kidney(1)	3	c.(589-591)GTG>ATG			PROSITE_profiles:PS51352,hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF143,Pfam_domain:PF00085,Gene3D:3.40.30.10,Superfamily_domains:SSF52833	DnaJ (Hsp40) homolog, subfamily C, member 16				ENSP00000365007		15-May	2.47E-05		8.71E-05			1.51E-05		6.09E-05	rs776330570,COSM3399858	15-May	.		ENST00000375847	Transcript			cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	ENSG00000116138	g.chr1:15870908G>A	29157			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=DJC16_HUMAN&rb=145&re=245&var=V197M	getma.org/pdb.php?prot=DJC16_HUMAN&from=145&to=245&var=V197M	getma.org/?cm=var&var=hg19,1,15870908,G,A&fts=all	V197M	--	--	1																																		DNAJC16_uc001awr.1_Missense_Mutation_p.V197M|DNAJC16_uc001awt.2_Translation_Start_Site	0,1	1		probably_damaging(0.997)	p.V197M	NM_015291	NP_056106		deleterious(0)	0,1	DJC16_HUMAN	DNAJC16	HGNC	Q9Y2G8	DJC16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	B3KMS3_HUMAN		5	709	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	UPI000000DBDB	197			Cytoplasmic (Potential).|Thioredoxin.		SNV	DNAJC16,missense_variant,p.Val197Met,ENST00000375847,NM_015291.2,NM_001287811.1;DNAJC16,missense_variant,p.Val197Met,ENST00000375849,;DNAJC16,missense_variant,p.Val197Met,ENST00000375838,;SCARNA21,downstream_gene_variant,,ENST00000516057,;DNAJC16,missense_variant,p.Val197Met,ENST00000475133,;	uc001aws.2	c.589G>A	753/6069	2	2			c.589G>A						1	SNP	c.(589-591)GTG>ATG	29	29			urinary_tract(1)|lung(1)|kidney(1)	3	Broad	DnaJ (Hsp40) homolog, subfamily C, member 16			15870908		0.463	ENSG00000116138	4553	g.chr1:15870908G>A	cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding							138.598874	KEEP	22	24	-1	10	5	22	24	-1	141.605828	10	5	0.745455	1	0	0	0	0	1	0	0	0	--	--		0	A			DNAJC16_uc001awr.1_Missense_Mutation_p.V197M|DNAJC16_uc001awt.2_Translation_Start_Site	102	GBM-06-5858-TP	p.V197M	G	AGGAATTGGCGTGGTCCATGC	NM_015291	NP_056106	15870908	Q9Y2G8	DJC16_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	5	709	+	A	A		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	Missense_Mutation	197			Cytoplasmic (Potential).|Thioredoxin.			
DNAJC19	0	broad.mit.edu	GRCh37	3	180705861	180705861	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-26-5132-01	TCGA-26-5132-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382564.2:c.79A>G	p.Lys27Glu	p.K27E	ENST00000382564	NM_145261.3	27	Aag/Gag	0			1			C	K/E	uc003fkt.2	protein_coding	YES	CCDS33895.1			79/351										0	c.(79-81)AAG>GAG			hmmpanther:PTHR12763,hmmpanther:PTHR12763:SF8	DnaJ homolog, subfamily C, member 19				ENSP00000372005		6-Mar									COSM2156919	6-Mar	.		ENST00000382564	Transcript	1		genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception	integral to membrane|mitochondrial inner membrane	heat shock protein binding	ENSG00000205981	g.chr3:180705861T>C	30528			MODERATE		1.9	low	getma.org/?cm=msa&ty=f&p=TIM14_HUMAN&rb=1&re=62&var=K27E	NA	getma.org/?cm=var&var=hg19,3,180705861,T,C&fts=all	K27E	--	--	1																																		DNAJC19_uc003fku.2_RNA	1	1		possibly_damaging(0.591)	p.K27E	NM_145261	NP_660304		tolerated(0.06)	1	TIM14_HUMAN	DNAJC19	HGNC	Q96DA6	TIM14_HUMAN	Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)				3	219	-	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		UPI000006CD5D	27			Mitochondrial matrix (Potential).		SNV	DNAJC19,missense_variant,p.Lys27Glu,ENST00000382564,NM_145261.3;DNAJC19,missense_variant,p.Lys27Glu,ENST00000486355,;DNAJC19,missense_variant,p.Lys2Glu,ENST00000491873,;DNAJC19,missense_variant,p.Lys2Glu,ENST00000479269,NM_001190233.1;SOX2-OT,upstream_gene_variant,,ENST00000487240,;SOX2-OT,upstream_gene_variant,,ENST00000461063,;DNAJC19,missense_variant,p.Lys27Glu,ENST00000469657,;DNAJC19,non_coding_transcript_exon_variant,,ENST00000485675,;DNAJC19,non_coding_transcript_exon_variant,,ENST00000482363,;DNAJC19,non_coding_transcript_exon_variant,,ENST00000478723,;DNAJC19,non_coding_transcript_exon_variant,,ENST00000472504,;	uc003fkt.2	c.79A>G	250/1453	3	3			c.79A>G						3	SNP	c.(79-81)AAG>GAG	9	9				0	Broad	DnaJ homolog, subfamily C, member 19			180705861		0.388	ENSG00000205981	4556	g.chr3:180705861T>C	genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception	integral to membrane|mitochondrial inner membrane	heat shock protein binding							295.66419	KEEP	42	43	-1	52	65	42	43	-1	296.054783	52	65	0.45	1	0	0	0	0	1	0	0	0	--	--		0	C			DNAJC19_uc003fku.2_RNA	181	GBM-26-5132-TP	p.K27E	T	TCCATATGCTTCATGGCTTGC	NM_145261	NP_660304	180705861	Q96DA6	TIM14_HUMAN	0	Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)		3	219	-	C	C	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Missense_Mutation	27			Mitochondrial matrix (Potential).			
DNAJC19	0	broad.mit.edu	GRCh37	3	180702463	180702463	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1991-01	TCGA-32-1991-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382564.2:c.316G>A	p.Ala106Thr	p.A106T	ENST00000382564	NM_145261.3	106	Gct/Act	0			1			T	A/T	uc003fkt.2	protein_coding	YES	CCDS33895.1			316/351										0	c.(316-318)GCT>ACT			Superfamily_domains:SSF46565,SMART_domains:SM00271,Gene3D:1.10.287.110,Pfam_domain:PF00226,hmmpanther:PTHR12763,hmmpanther:PTHR12763:SF8,PROSITE_profiles:PS50076	DnaJ homolog, subfamily C, member 19				ENSP00000372005		6-Jun									COSM3408457	6-Jun	.		ENST00000382564	Transcript	1		genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception	integral to membrane|mitochondrial inner membrane	heat shock protein binding	ENSG00000205981	g.chr3:180702463C>T	30528			MODERATE		4.19	high	getma.org/?cm=msa&ty=f&p=TIM14_HUMAN&rb=63&re=116&var=A106T	getma.org/pdb.php?prot=TIM14_HUMAN&from=63&to=116&var=A106T	getma.org/?cm=var&var=hg19,3,180702463,C,T&fts=all	A106T	--	--	1																																		DNAJC19_uc003fku.2_RNA	1	1		probably_damaging(0.999)	p.A106T	NM_145261	NP_660304		deleterious(0)	1	TIM14_HUMAN	DNAJC19	HGNC	Q96DA6	TIM14_HUMAN	Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)				6	456	-	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		UPI000006CD5D	106			J.|Mitochondrial matrix (Potential).		SNV	DNAJC19,missense_variant,p.Ala106Thr,ENST00000382564,NM_145261.3;DNAJC19,missense_variant,p.Ala81Thr,ENST00000491873,;DNAJC19,missense_variant,p.Ala81Thr,ENST00000479269,NM_001190233.1;DNAJC19,3_prime_UTR_variant,,ENST00000486355,;FXR1,downstream_gene_variant,,ENST00000357559,NM_001013438.2,NM_005087.3;DNAJC19,3_prime_UTR_variant,,ENST00000469657,;DNAJC19,downstream_gene_variant,,ENST00000485675,;DNAJC19,downstream_gene_variant,,ENST00000482363,;DNAJC19,downstream_gene_variant,,ENST00000478723,;DNAJC19,downstream_gene_variant,,ENST00000472504,;	uc003fkt.2	c.316G>A	487/1453	1	1			c.316G>A						3	SNP	c.(316-318)GCT>ACT	13	13				0	Broad	DnaJ homolog, subfamily C, member 19			180702463		0.284	ENSG00000205981	4556	g.chr3:180702463C>T	genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception	integral to membrane|mitochondrial inner membrane	heat shock protein binding							2.430784	KEEP	0	4	-1	16	14	0	4	-1	6.403555	16	14	0.086957	1	0	0	0	0	1	0	0	0	--	--		0	T			DNAJC19_uc003fku.2_RNA	234	GBM-32-1991-TP	p.A106T	C	AAATCTTTAGCTTCATTGATT	NM_145261	NP_660304	180702463	Q96DA6	TIM14_HUMAN	0	Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)		6	456	-	T	T	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Missense_Mutation	106			J.|Mitochondrial matrix (Potential).			
DNAJC2	27000	broad.mit.edu	GRCh37	7	102953526	102953526	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0241-01	TCGA-06-0241-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379263.3:c.1659T>C	p.Pro553=	p.P553=	ENST00000379263	NM_014377.1	553	ccT/ccC	0			1			G	P	uc003vbo.2	protein_coding	YES	CCDS43628.1			1659/1866									kidney(1)	1	c.(1657-1659)CCT>CCC			Gene3D:1.10.10.60,Pfam_domain:PF00249,PROSITE_profiles:PS51293,hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF67,SMART_domains:SM00717,Superfamily_domains:SSF46689	DnaJ (Hsp40) homolog, subfamily C, member 2				ENSP00000368565		16/17	8.28E-06							6.08E-05	rs759297684,COSM2151153,COSM2151154	16/17	.		ENST00000379263	Transcript			'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding	ENSG00000105821	g.chr7:102953526A>G	13192			LOW								--	--	1																																		PMPCB_uc003vbl.2_3'UTR|PMPCB_uc003vbm.2_3'UTR|PMPCB_uc010liv.2_3'UTR|PMPCB_uc010liw.2_3'UTR|PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.2_Silent_p.P178P|DNAJC2_uc010lix.2_Silent_p.P500P|DNAJC2_uc003vbp.2_Silent_p.P178P	0,1,1	1			p.P553P	NM_014377	NP_055192			0,1,1	DNJC2_HUMAN	DNAJC2	HGNC	Q99543	DNJC2_HUMAN			Q08AR5_HUMAN,C9IZ83_HUMAN		16	1910	-			UPI000020F858	553			SANT 2.		SNV	DNAJC2,synonymous_variant,p.=,ENST00000379263,NM_014377.1;DNAJC2,synonymous_variant,p.=,ENST00000249270,NM_001129887.1;PMPCB,3_prime_UTR_variant,,ENST00000249269,NM_004279.2;PMPCB,intron_variant,,ENST00000420236,;PMPCB,downstream_gene_variant,,ENST00000428154,;DNAJC2,non_coding_transcript_exon_variant,,ENST00000492497,;DNAJC2,non_coding_transcript_exon_variant,,ENST00000475065,;DNAJC2,non_coding_transcript_exon_variant,,ENST00000464253,;PMPCB,intron_variant,,ENST00000444457,;PMPCB,downstream_gene_variant,,ENST00000469560,;PMPCB,downstream_gene_variant,,ENST00000453466,;PMPCB,downstream_gene_variant,,ENST00000443722,;PMPCB,downstream_gene_variant,,ENST00000498530,;PMPCB,downstream_gene_variant,,ENST00000456433,;DNAJC2,downstream_gene_variant,,ENST00000475090,;	uc003vbo.2	c.1659T>C	1910/2167	4	4			c.1659T>C						7	SNP	c.(1657-1659)CCT>CCC	18	18			kidney(1)	1	Broad	DnaJ (Hsp40) homolog, subfamily C, member 2			102953526		0.393	ENSG00000105821	4557	g.chr7:102953526A>G	'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding							404.417592	KEEP	66	74	-1	175	193	66	74	-1	423.705338	175	193	0.27991	1	0	0	0	0	0	0	1	0	--	--		0	G			PMPCB_uc003vbl.2_3'UTR|PMPCB_uc003vbm.2_3'UTR|PMPCB_uc010liv.2_3'UTR|PMPCB_uc010liw.2_3'UTR|PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.2_Silent_p.P178P|DNAJC2_uc010lix.2_Silent_p.P500P|DNAJC2_uc003vbp.2_Silent_p.P178P	57	GBM-06-0241-TP	p.P553P	A	CTGTTGTCCAAGGGGTGAAGT	NM_014377	NP_055192	102953526	Q99543	DNJC2_HUMAN	0			16	1910	-	G	G			Silent	553			SANT 2.			
DNAJC22	0	broad.mit.edu	GRCh37	12	49745175	49745175	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395069.3:c.916C>T	p.Pro306Ser	p.P306S	ENST00000395069	NM_024902.2	306	Cca/Tca	0			1			T	P/S	uc001rua.2	protein_coding		CCDS8785.1			916/1026									ovary(1)	1	c.(916-918)CCA>TCA			Gene3D:1.10.287.110,Pfam_domain:PF00226,Prints_domain:PR00625,PROSITE_profiles:PS50076,hmmpanther:PTHR24076,SMART_domains:SM00271,Superfamily_domains:SSF46565	DnaJ (Hsp40) homolog, subfamily C, member 22				ENSP00000378508		3-Mar									COSM3398783,COSM3398782	3-Mar	.		ENST00000395069	Transcript			protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	ENSG00000178401	g.chr12:49745175C>T	25802			MODERATE		3.895	high	getma.org/?cm=msa&ty=f&p=DJC22_HUMAN&rb=278&re=336&var=P306S	getma.org/pdb.php?prot=DJC22_HUMAN&from=278&to=336&var=P306S	getma.org/?cm=var&var=hg19,12,49745175,C,T&fts=all	P306S	--	--	1																																		DNAJC22_uc001rub.2_Missense_Mutation_p.P306S	1,1			probably_damaging(1)	p.P306S	NM_024902	NP_079178		deleterious(0)	1,1	DJC22_HUMAN	DNAJC22	HGNC	Q8N4W6	DJC22_HUMAN					3	1317	+			UPI000006D2CC	306			J.		SNV	DNAJC22,missense_variant,p.Pro306Ser,ENST00000549441,;DNAJC22,missense_variant,p.Pro306Ser,ENST00000395069,NM_024902.2;DNAJC22,upstream_gene_variant,,ENST00000552651,;DNAJC22,non_coding_transcript_exon_variant,,ENST00000551153,;	uc001rua.2	c.916C>T	1537/2059	2	2			c.916C>T						12	SNP	c.(916-918)CCA>TCA	43	43			ovary(1)	1	Broad	DnaJ (Hsp40) homolog, subfamily C, member 22			49745175		0.522	ENSG00000178401	4559	g.chr12:49745175C>T	protein folding	integral to membrane	heat shock protein binding|unfolded protein binding							-17.997711	KEEP	2	2	-1	50	58	2	2	-1	6.34492	50	58	0.038095	1	0	0	0	0	1	0	0	0	--	--		0	T			DNAJC22_uc001rub.2_Missense_Mutation_p.P306S	271	GBM-76-4932-TP	p.P306S	C	GGTCTGGCACCCAGACCACAA	NM_024902	NP_079178	49745175	Q8N4W6	DJC22_HUMAN	0			3	1317	+	T	T			Missense_Mutation	306			J.			
DNAJC28	54943		GRCh37	21	34861310	34861310	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000314399.3:c.391C>T	p.Pro131Ser	p.P131S	ENST00000314399	NM_017833.3	131	Ccc/Tcc	0																																																																																																																																																																																																																																												
DNAJC4	3338	broad.mit.edu	GRCh37	11	64001432	64001432	+	synonymous_variant	Silent	SNP	C	C	T	rs138996784	by1000genomes	TCGA-06-2558-01	TCGA-06-2558-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321685.3:c.594C>T	p.Asn198=	p.N198=	ENST00000321685	NM_005528.3	198	aaC/aaT	0			1			T	N	uc001nys.2	protein_coding	YES	CCDS41666.1			594/726										0	c.(592-594)AAC>AAT			hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF145	DnaJ (Hsp40) homolog, subfamily C, member 4				ENSP00000396896		7-Jun									COSM2152614	7-Jun	.		ENST00000321685	Transcript			protein folding|response to unfolded protein	integral to membrane|membrane fraction	heat shock protein binding|unfolded protein binding	ENSG00000110011	g.chr11:64001432C>T	5271			LOW								--	--	1																																		uc001nyr.1_5'Flank|DNAJC4_uc001nyt.2_Silent_p.N199N|DNAJC4_uc001nyu.2_Silent_p.N198N|VEGFB_uc001nyw.2_5'Flank|VEGFB_uc001nyx.2_5'Flank	1	1			p.N198N	NM_005528	NP_005519			1	DNJC4_HUMAN	DNAJC4	HGNC	Q9NNZ3	DNJC4_HUMAN					6	1056	+			UPI000000DA95	198					SNV	DNAJC4,synonymous_variant,p.=,ENST00000321685,NM_005528.3;DNAJC4,synonymous_variant,p.=,ENST00000321460,;DNAJC4,synonymous_variant,p.=,ENST00000535246,;DNAJC4,3_prime_UTR_variant,,ENST00000355040,;VEGFB,upstream_gene_variant,,ENST00000309422,NM_003377.4,NM_001243733.1;NUDT22,downstream_gene_variant,,ENST00000279206,NM_032344.3,NM_001128612.2;NUDT22,downstream_gene_variant,,ENST00000441250,NM_001128613.2,NM_001271831.1;VEGFB,upstream_gene_variant,,ENST00000426086,;NUDT22,downstream_gene_variant,,ENST00000428347,;VEGFB,upstream_gene_variant,,ENST00000541681,;RP11-783K16.14,intron_variant,,ENST00000534988,;RP11-783K16.14,intron_variant,,ENST00000539963,;DNAJC4,non_coding_transcript_exon_variant,,ENST00000540945,;NUDT22,downstream_gene_variant,,ENST00000422364,;DNAJC4,downstream_gene_variant,,ENST00000537109,;NUDT22,downstream_gene_variant,,ENST00000535000,;DNAJC4,downstream_gene_variant,,ENST00000536006,;VEGFB,upstream_gene_variant,,ENST00000543462,;NUDT22,downstream_gene_variant,,ENST00000543358,;NUDT22,downstream_gene_variant,,ENST00000534929,;NUDT22,downstream_gene_variant,,ENST00000545184,;DNAJC4,downstream_gene_variant,,ENST00000542376,;DNAJC4,downstream_gene_variant,,ENST00000538961,;DNAJC4,downstream_gene_variant,,ENST00000543791,;NUDT22,downstream_gene_variant,,ENST00000537094,;NUDT22,downstream_gene_variant,,ENST00000543501,;DNAJC4,downstream_gene_variant,,ENST00000543685,;	uc001nys.2	c.594C>T	1059/1288	2	2			c.594C>T						11	SNP	c.(592-594)AAC>AAT	34	34				0	Broad	DnaJ (Hsp40) homolog, subfamily C, member 4			64001432		0.547	ENSG00000110011	4567	g.chr11:64001432C>T	protein folding|response to unfolded protein	integral to membrane|membrane fraction	heat shock protein binding|unfolded protein binding							194.704932	KEEP	40	42	-1	90	82	40	42	-1	200.432985	90	82	0.325472	1	0	0	0	0	0	0	1	0	--	--		0	T			uc001nyr.1_5'Flank|DNAJC4_uc001nyt.2_Silent_p.N199N|DNAJC4_uc001nyu.2_Silent_p.N198N|VEGFB_uc001nyw.2_5'Flank|VEGFB_uc001nyx.2_5'Flank	82	GBM-06-2558-TP	p.N198N	C	CCTTCTACAACGAAGCCCGGG	NM_005528	NP_005519	64001432	Q9NNZ3	DNJC4_HUMAN	0			6	1056	+	T	T			Silent	198						
DNAJC5B	85479	broad.mit.edu	GRCh37	8	66963845	66963845	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-02-0047-01	TCGA-02-0047-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276570.5:c.63C>T	p.Tyr21=	p.Y21=	ENST00000276570	NM_033105.4	21	taC/taT	0			1			T	Y	uc003xvs.1	protein_coding	YES	CCDS6183.1			63/600										0	c.(61-63)TAC>TAT			Gene3D:1.10.287.110,Pfam_domain:PF00226,Prints_domain:PR00625,PROSITE_profiles:PS50076,hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF162,SMART_domains:SM00271,Superfamily_domains:SSF46565	DnaJ (Hsp40) homolog, subfamily C, member 5				ENSP00000276570		6-Mar	2.47E-05	9.63E-05	8.64E-05	0.000116					rs764193345,COSM1457829	6-Mar	.		ENST00000276570	Transcript			protein folding	membrane	heat shock protein binding|unfolded protein binding	ENSG00000147570	g.chr8:66963845C>T	24138			LOW								--	--	1																																		DNAJC5B_uc003xvt.1_RNA	0,1	1			p.Y21Y	NM_033105	NP_149096			0,1	DNJ5B_HUMAN	DNAJC5B	HGNC	Q9UF47	DNJ5B_HUMAN	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)		E5RGF4_HUMAN		3	354	+		Lung NSC(129;0.114)|all_lung(136;0.188)	UPI0000050F10	21			J.		SNV	DNAJC5B,synonymous_variant,p.=,ENST00000276570,NM_033105.4;DNAJC5B,synonymous_variant,p.=,ENST00000522619,;DNAJC5B,non_coding_transcript_exon_variant,,ENST00000519330,;DNAJC5B,intron_variant,,ENST00000524076,;	uc003xvs.1	c.63C>T	350/1372	2	2			c.63C>T						8	SNP	c.(61-63)TAC>TAT	38	38				0	Broad	DnaJ (Hsp40) homolog, subfamily C, member 5			66963845		0.398	ENSG00000147570	4569	g.chr8:66963845C>T	protein folding	membrane	heat shock protein binding|unfolded protein binding							182.686645	KEEP	35	34	-1	67	69	35	34	-1	187.067222	67	69	0.340206	1	0	0	0	0	0	0	1	0	--	--		0	T			DNAJC5B_uc003xvt.1_RNA	3	GBM-02-0047-TP	p.Y21Y	C	AAGCTCTATACGAAATTCTTG	NM_033105	NP_149096	66963845	Q9UF47	DNJ5B_HUMAN	0	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)		3	354	+	T	T		Lung NSC(129;0.114)|all_lung(136;0.188)	Silent	21			J.			
DNAJC6	9829	broad.mit.edu	GRCh37	1	65852503	65852503	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0210-01	TCGA-06-0210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371069.4:c.1004G>A	p.Arg335His	p.R335H	ENST00000371069	NM_001256864.1	335	cGt/cAt	0			1			A	R/H	uc001dcd.1	protein_coding		CCDS30739.1			833/2742									large_intestine(1)|lung(1)|ovary(1)	3	c.(832-834)CGT>CAT			Superfamily_domains:SSF49562,Pfam_domain:PF10409,Gene3D:1d5rA02,hmmpanther:PTHR23172,hmmpanther:PTHR23172:SF4,PROSITE_profiles:PS51182	DnaJ (Hsp40) homolog, subfamily C, member 6				ENSP00000378735		19-Aug	5.77E-05			0.000116		9.01E-05			rs761817101,COSM2150714,COSM3400954	19-Aug	.		ENST00000395325	Transcript	1		cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	ENSG00000116675	g.chr1:65852503G>A	15469			MODERATE		1.175	low	getma.org/?cm=msa&ty=f&p=AUXI_HUMAN&rb=226&re=365&var=R278H	getma.org/pdb.php?prot=AUXI_HUMAN&from=226&to=365&var=R278H	getma.org/?cm=var&var=hg19,1,65852503,G,A&fts=all	R278H	--	--	1																																		DNAJC6_uc001dcc.1_Missense_Mutation_p.R309H|DNAJC6_uc010opc.1_Missense_Mutation_p.R265H|DNAJC6_uc001dce.1_Missense_Mutation_p.R335H	0,1,1			probably_damaging(0.999)	p.R278H	NM_014787	NP_055602		deleterious(0.01)	0,1,1	AUXI_HUMAN	DNAJC6	HGNC	O75061	AUXI_HUMAN					8	997	+			UPI000007355D	278			C2 tensin-type.		SNV	DNAJC6,missense_variant,p.Arg278His,ENST00000395325,NM_014787.3;DNAJC6,missense_variant,p.Arg335His,ENST00000371069,NM_001256864.1;DNAJC6,missense_variant,p.Arg265His,ENST00000263441,NM_001256865.1;DNAJC6,missense_variant,p.Arg309His,ENST00000494710,;DNAJC6,non_coding_transcript_exon_variant,,ENST00000498720,;	uc001dcd.1	c.833G>A	990/5743	1	1			c.833G>A						1	SNP	c.(832-834)CGT>CAT	56	56			large_intestine(1)|lung(1)|ovary(1)	3	Broad	DnaJ (Hsp40) homolog, subfamily C, member 6			65852503		0.438	ENSG00000116675	4571	g.chr1:65852503G>A	cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding							53.315228	KEEP	9	21	-1	53	60	9	21	-1	63.974575	53	60	0.198413	1	0	0	0	0	1	0	0	0	--	--		0	A			DNAJC6_uc001dcc.1_Missense_Mutation_p.R309H|DNAJC6_uc010opc.1_Missense_Mutation_p.R265H|DNAJC6_uc001dce.1_Missense_Mutation_p.R335H	47	GBM-06-0210-TP	p.R278H	G	AGAGAATATCGTGTCCAAGAT	NM_014787	NP_055602	65852503	O75061	AUXI_HUMAN	0			8	997	+	A	A			Missense_Mutation	278			C2 tensin-type.			
DNAJC6	0	broad.mit.edu	GRCh37	1	65845142	65845142	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-0861-01	TCGA-16-0861-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395325.3:c.430G>A	p.Val144Met	p.V144M	ENST00000395325	NM_014787.3	144	Gtg/Atg	0			1			A	V/M	uc001dcd.1	protein_coding		CCDS30739.1			430/2742									large_intestine(1)|lung(1)|ovary(1)	3	c.(430-432)GTG>ATG			Superfamily_domains:SSF52799,Gene3D:3.90.190.10,hmmpanther:PTHR23172,hmmpanther:PTHR23172:SF4,PROSITE_profiles:PS51181	DnaJ (Hsp40) homolog, subfamily C, member 6				ENSP00000378735		19-May									COSM3400952,COSM3400953	19-May	.		ENST00000395325	Transcript	1		cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	ENSG00000116675	g.chr1:65845142G>A	15469			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=AUXI_HUMAN&rb=55&re=222&var=V144M	getma.org/pdb.php?prot=AUXI_HUMAN&from=55&to=222&var=V144M	getma.org/?cm=var&var=hg19,1,65845142,G,A&fts=all	V144M	--	--	1																																		DNAJC6_uc001dcc.1_Missense_Mutation_p.V175M|DNAJC6_uc010opc.1_Missense_Mutation_p.V131M|DNAJC6_uc001dce.1_Missense_Mutation_p.V201M	1,1			probably_damaging(0.998)	p.V144M	NM_014787	NP_055602		deleterious(0)	1,1	AUXI_HUMAN	DNAJC6	HGNC	O75061	AUXI_HUMAN					5	594	+			UPI000007355D	144			Phosphatase tensin-type.		SNV	DNAJC6,missense_variant,p.Val144Met,ENST00000395325,NM_014787.3;DNAJC6,missense_variant,p.Val201Met,ENST00000371069,NM_001256864.1;DNAJC6,missense_variant,p.Val131Met,ENST00000263441,NM_001256865.1;DNAJC6,missense_variant,p.Val175Met,ENST00000494710,;DNAJC6,non_coding_transcript_exon_variant,,ENST00000472787,;DNAJC6,upstream_gene_variant,,ENST00000498720,;	uc001dcd.1	c.430G>A	587/5743	1	1			c.430G>A						1	SNP	c.(430-432)GTG>ATG	61	61			large_intestine(1)|lung(1)|ovary(1)	3	Broad	DnaJ (Hsp40) homolog, subfamily C, member 6			65845142		0.458	ENSG00000116675	4571	g.chr1:65845142G>A	cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding							309.974062	KEEP	71	61	-1	96	88	71	61	-1	311.697251	96	88	0.414179	1	0	0	0	0	1	0	0	0	--	--		0	A			DNAJC6_uc001dcc.1_Missense_Mutation_p.V175M|DNAJC6_uc010opc.1_Missense_Mutation_p.V131M|DNAJC6_uc001dce.1_Missense_Mutation_p.V201M	156	GBM-16-0861-TP	p.V144M	G	CCTTTTTGCTGTGTGTCGGAA	NM_014787	NP_055602	65845142	O75061	AUXI_HUMAN	0			5	594	+	A	A			Missense_Mutation	144			Phosphatase tensin-type.			
DNAJC9	0	broad.mit.edu	GRCh37	10	75006771	75006771	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-1991-01	TCGA-32-1991-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372950.4:c.177C>G	p.Phe59Leu	p.F59L	ENST00000372950	NM_015190.3	59	ttC/ttG	0			1			C	F/L	uc001jtr.2	protein_coding	YES	CCDS7322.1			177/783										0	c.(175-177)TTC>TTG			PROSITE_profiles:PS50076,hmmpanther:PTHR24078,PROSITE_patterns:PS00636,Pfam_domain:PF00226,Gene3D:1.10.287.110,SMART_domains:SM00271,Superfamily_domains:SSF46565,Prints_domain:PR00625	DnaJ homolog, subfamily C, member 9				ENSP00000362041		5-Jan									COSM3397237	5-Jan	.		ENST00000372950	Transcript			protein folding		heat shock protein binding|unfolded protein binding	ENSG00000213551	g.chr10:75006771G>C	19123			MODERATE		2.92	medium	getma.org/?cm=msa&ty=f&p=DNJC9_HUMAN&rb=15&re=79&var=F59L	getma.org/pdb.php?prot=DNJC9_HUMAN&from=15&to=79&var=F59L	getma.org/?cm=var&var=hg19,10,75006771,G,C&fts=all	F59L	--	--	1																																		DNAJC9_uc010qkg.1_Missense_Mutation_p.F59L|MRPS16_uc010qkh.1_RNA	1	1		possibly_damaging(0.859)	p.F59L	NM_015190	NP_056005		deleterious(0)	1	DNJC9_HUMAN	DNAJC9	HGNC	Q8WXX5	DNJC9_HUMAN			B2RMW6_HUMAN		1	255	-	Prostate(51;0.0119)		UPI00000375B6	59			J.		SNV	DNAJC9,missense_variant,p.Phe59Leu,ENST00000372950,NM_015190.3;MRPS16,3_prime_UTR_variant,,ENST00000416782,;FAM149B1,downstream_gene_variant,,ENST00000242505,NM_173348.1;MRPS16,downstream_gene_variant,,ENST00000372945,NM_016065.3;FAM149B1,downstream_gene_variant,,ENST00000445951,;MRPS16,downstream_gene_variant,,ENST00000372940,;DNAJC9-AS1,upstream_gene_variant,,ENST00000440197,;DNAJC9-AS1,upstream_gene_variant,,ENST00000513954,;MRPS16,downstream_gene_variant,,ENST00000479005,;DNAJC9,upstream_gene_variant,,ENST00000453189,;MRPS16,downstream_gene_variant,,ENST00000471251,;DNAJC9,downstream_gene_variant,,ENST00000512551,;MRPS16,downstream_gene_variant,,ENST00000473427,;DNAJC9,upstream_gene_variant,,ENST00000469143,;FAM149B1,downstream_gene_variant,,ENST00000468462,;	uc001jtr.2	c.177C>G	1850/3032	4	4			c.177C>G						10	SNP	c.(175-177)TTC>TTG	42	42				0	Broad	DnaJ homolog, subfamily C, member 9			75006771		0.736	ENSG00000213551	4574	g.chr10:75006771G>C	protein folding		heat shock protein binding|unfolded protein binding							6.547389	KEEP	2	0	-1	3	9	2	0	-1	6.835621	3	9	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	C			DNAJC9_uc010qkg.1_Missense_Mutation_p.F59L|MRPS16_uc010qkh.1_RNA	234	GBM-32-1991-TP	p.F59L	G	TGCATACCTGGAAGCGGCGGG	NM_015190	NP_056005	75006771	Q8WXX5	DNJC9_HUMAN	0			1	255	-	C	C	Prostate(51;0.0119)		Missense_Mutation	59			J.			
DNALI1	7802	broad.mit.edu	GRCh37	1	38027710	38027710	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0241-01	TCGA-06-0241-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296218.7:c.671A>G	p.Asp224Gly	p.D224G	ENST00000296218	NM_003462.3	224	gAc/gGc	0			1			G	D/G	uc001cbj.2	protein_coding	YES	CCDS420.1			671/843									large_intestine(1)|ovary(1)	2	c.(670-672)GAC>GGC			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF10211,hmmpanther:PTHR13183	dynein, axonemal, light intermediate chain 1				ENSP00000296218		6-May									COSM3400732	6-May	.		ENST00000296218	Transcript			cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity	ENSG00000163879	g.chr1:38027710A>G	14353			MODERATE		2.31	medium	getma.org/?cm=msa&ty=f&p=IDLC_HUMAN&rb=65&re=253&var=D202G	NA	getma.org/?cm=var&var=hg19,1,38027710,A,G&fts=all	D202G	--	--	1																																OREG0013380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	DNALI1_uc010oie.1_RNA	1	1		benign(0.056)	p.D224G	NM_003462	NP_003453		deleterious(0.03)	1	IDLC_HUMAN	DNALI1	HGNC	O14645	IDLC_HUMAN					5	681	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	UPI00001D6A0B	202			Potential.		SNV	DNALI1,missense_variant,p.Asp224Gly,ENST00000296218,NM_003462.3;DNALI1,missense_variant,p.Asp76Gly,ENST00000541606,;GNL2,downstream_gene_variant,,ENST00000373062,NM_013285.2;DNALI1,non_coding_transcript_exon_variant,,ENST00000497858,;DNALI1,non_coding_transcript_exon_variant,,ENST00000467277,;DNALI1,non_coding_transcript_exon_variant,,ENST00000466723,;GNL2,downstream_gene_variant,,ENST00000462812,;DNALI1,downstream_gene_variant,,ENST00000490312,;GNL2,downstream_gene_variant,,ENST00000490029,;GNL2,downstream_gene_variant,,ENST00000479255,;	uc001cbj.2	c.671A>G	681/2649	4	4			c.671A>G						1	SNP	c.(670-672)GAC>GGC	21	21			large_intestine(1)|ovary(1)	2	Broad	dynein, axonemal, light intermediate chain 1			38027710		0.557	ENSG00000163879	4577	g.chr1:38027710A>G	cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity							-23.098006	KEEP	2	2	-1	51	88	2	2	-1	7.434628	51	88	0.031496	1	0	0	0	0	1	0	0	0	--	--		0	G	OREG0013380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	DNALI1_uc010oie.1_RNA	57	GBM-06-0241-TP	p.D224G	A	GAAAAGAGAGACCTGGAGAGG	NM_003462	NP_003453	38027710	O14645	IDLC_HUMAN	0			5	681	+	G	G		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	Missense_Mutation	202			Potential.			
DNALI1	0	broad.mit.edu	GRCh37	1	38025070	38025070	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01	TCGA-19-5951-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296218.7:c.436C>T	p.Arg146Cys	p.R146C	ENST00000296218	NM_003462.3	146	Cgc/Tgc	0	T:0		1			T	R/C	uc001cbj.2	protein_coding	YES	CCDS420.1			436/843									large_intestine(1)|ovary(1)	2	c.(436-438)CGC>TGC			Pfam_domain:PF10211,hmmpanther:PTHR13183	dynein, axonemal, light intermediate chain 1			T:0.0001	ENSP00000296218		6-Mar	8.24E-06					1.53E-05			rs375269116,COSM2156639	6-Mar	.		ENST00000296218	Transcript			cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity	ENSG00000163879	g.chr1:38025070C>T	14353			MODERATE		3.895	high	getma.org/?cm=msa&ty=f&p=IDLC_HUMAN&rb=65&re=253&var=R124C	NA	getma.org/?cm=var&var=hg19,1,38025070,C,T&fts=all	R124C	--	--	1																																		DNALI1_uc010oie.1_Intron	0,1	1		probably_damaging(1)	p.R146C	NM_003462	NP_003453		deleterious(0)	0,1	IDLC_HUMAN	DNALI1	HGNC	O14645	IDLC_HUMAN					3	446	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	UPI00001D6A0B	124					SNV	DNALI1,missense_variant,p.Arg146Cys,ENST00000296218,NM_003462.3;DNALI1,intron_variant,,ENST00000541606,;DNALI1,intron_variant,,ENST00000466723,;DNALI1,upstream_gene_variant,,ENST00000497858,;DNALI1,downstream_gene_variant,,ENST00000490312,;DNALI1,upstream_gene_variant,,ENST00000467277,;RP3-423B22.5,downstream_gene_variant,,ENST00000368565,;RP3-423B22.5,downstream_gene_variant,,ENST00000423216,;	uc001cbj.2	c.436C>T	446/2649	1	1			c.436C>T						1	SNP	c.(436-438)CGC>TGC	1	1			large_intestine(1)|ovary(1)	2	Broad	dynein, axonemal, light intermediate chain 1			38025070		0.587	ENSG00000163879	4577	g.chr1:38025070C>T	cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity							52.411592	KEEP	4	14	-1	13	18	4	14	-1	52.892836	13	18	0.386364	1	0	0	0	0	1	0	0	0	--	--		0	T			DNALI1_uc010oie.1_Intron	171	GBM-19-5951-TP	p.R146C	C	CTGCCCTGTCCGCAGGGAACT	NM_003462	NP_003453	38025070	O14645	IDLC_HUMAN	0			3	446	+	T	T		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	Missense_Mutation	124						
DNASE1L1	1774	broad.mit.edu	GRCh37	X	153631649	153631649	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369809.1:c.486C>T	p.Tyr162=	p.Y162=	ENST00000369809	NM_001009932.1	162	taC/taT	0	A:0		1			A		uc004fkr.1	protein_coding		CCDS14746.1			-/645										0	c.(313-315)GTA>ATA	969			ribosomal protein L10			A:0.0003	ENSP00000341730			0.000544	0.000118	0.000215		0.000221	0.000942		9.97E-05	rs368820912,COSM2149639		common_variant		ENST00000344746	Transcript	1		endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome	ENSG00000147403	g.chrX:153631649G>A	10298			MODIFIER								--	--	1																																		RPL10_uc004fkq.1_RNA|DNASE1L1_uc004fks.1_Silent_p.Y162Y|DNASE1L1_uc004fkt.1_Silent_p.Y162Y|DNASE1L1_uc004fku.1_Silent_p.Y162Y|DNASE1L1_uc004fkv.1_Silent_p.Y162Y|DNASE1L1_uc004fkw.1_Silent_p.Y162Y	0,1				p.V105I	NM_006013	NP_006004			0,1	RL10_HUMAN	RPL10	HGNC	P27635	RL10_HUMAN			F8W7C6_HUMAN		3	348	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		UPI00000019F3	Error:Variant_position_missing_in_P27635_after_alignment					SNV	RPL10,missense_variant,p.Val90Ile,ENST00000427682,;DNASE1L1,synonymous_variant,p.=,ENST00000369809,NM_001009932.1;DNASE1L1,synonymous_variant,p.=,ENST00000369808,NM_006730.2;DNASE1L1,synonymous_variant,p.=,ENST00000393638,NM_001009934.1;DNASE1L1,synonymous_variant,p.=,ENST00000014935,;DNASE1L1,synonymous_variant,p.=,ENST00000309585,NM_001009933.1;DNASE1L1,synonymous_variant,p.=,ENST00000369807,;DNASE1L1,synonymous_variant,p.=,ENST00000451865,;RPL10,synonymous_variant,p.=,ENST00000451365,;RPL10,3_prime_UTR_variant,,ENST00000449494,;DNASE1L1,intron_variant,,ENST00000447892,;RPL10,intron_variant,,ENST00000428169,;DNASE1L1,intron_variant,,ENST00000412184,;RPL10,downstream_gene_variant,,ENST00000424325,NM_006013.3,NM_001256580.1,NM_001256577.1;RPL10,downstream_gene_variant,,ENST00000344746,;RPL10,downstream_gene_variant,,ENST00000369817,;DNASE1L1,downstream_gene_variant,,ENST00000424626,;DNASE1L1,downstream_gene_variant,,ENST00000432135,;RPL10,downstream_gene_variant,,ENST00000406022,;RPL10,downstream_gene_variant,,ENST00000436473,;RPL10,downstream_gene_variant,,ENST00000458500,;SNORA70,downstream_gene_variant,,ENST00000384436,NR_000011.1;RPL10,downstream_gene_variant,,ENST00000479366,;DNASE1L1,non_coding_transcript_exon_variant,,ENST00000497242,;RPL10,downstream_gene_variant,,ENST00000482732,;RPL10,downstream_gene_variant,,ENST00000489200,;RPL10,downstream_gene_variant,,ENST00000491035,;RPL10,downstream_gene_variant,,ENST00000492572,;RPL10,downstream_gene_variant,,ENST00000474786,;RPL10,downstream_gene_variant,,ENST00000485196,;RPL10,downstream_gene_variant,,ENST00000467168,;	uc004fkr.1	c.313G>A	-/2278	2	2			c.313G>A						23	SNP	c.(313-315)GTA>ATA	47	47				0	Broad	ribosomal protein L10			153631649		0.622	ENSG00000147403	13335	g.chrX:153631649G>A	endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome							287.534653	KEEP	46	55	-1	55	71	46	55	-1	287.840551	55	71	0.458537	1	0	0	0	0	1	0	0	0	--	--		0	A			RPL10_uc004fkq.1_RNA|DNASE1L1_uc004fks.1_Silent_p.Y162Y|DNASE1L1_uc004fkt.1_Silent_p.Y162Y|DNASE1L1_uc004fku.1_Silent_p.Y162Y|DNASE1L1_uc004fkv.1_Silent_p.Y162Y|DNASE1L1_uc004fkw.1_Silent_p.Y162Y	18	GBM-06-0137-TP	p.V105I	G	GAAACACATCGTAGAGGGCGT	NM_006013	NP_006004	153631649	P27635	RL10_HUMAN	0			3	348	+	A	A	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		Missense_Mutation	Error:Variant_position_missing_in_P27635_after_alignment						
DNASE1L1	1774	broad.mit.edu	GRCh37	X	153633852	153633852	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01	TCGA-06-0645-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369809.1:c.58C>T	p.Arg20Cys	p.R20C	ENST00000369809	NM_001009932.1	20	Cgc/Tgc	0			1			A	R/C	uc004fks.1	protein_coding		CCDS14747.1			58/909										0	c.(58-60)CGC>TGC			hmmpanther:PTHR11371:SF22,hmmpanther:PTHR11371,Gene3D:3.60.10.10,SMART_domains:SM00476,PIRSF_domain:PIRSF000988,Superfamily_domains:SSF56219	deoxyribonuclease I-like 1 precursor				ENSP00000014935		9-Mar									COSM2151276	9-Mar	.		ENST00000014935	Transcript			DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	ENSG00000013563	g.chrX:153633852G>A	2957			MODERATE		3.115	medium	getma.org/?cm=msa&ty=f&p=DNSL1_HUMAN&rb=16&re=265&var=R20C	getma.org/pdb.php?prot=DNSL1_HUMAN&from=16&to=265&var=R20C	getma.org/?cm=var&var=hg19,X,153633852,G,A&fts=all	R20C	--	--	1																																		DNASE1L1_uc004fkt.1_Missense_Mutation_p.R20C|DNASE1L1_uc004fku.1_Missense_Mutation_p.R20C|DNASE1L1_uc004fkv.1_Missense_Mutation_p.R20C|DNASE1L1_uc004fkw.1_Missense_Mutation_p.R20C	1			probably_damaging(0.995)	p.R20C	NM_006730	NP_006721		deleterious(0)	1	DNSL1_HUMAN	DNASE1L1	HGNC	P49184	DNSL1_HUMAN			Q5HY40_HUMAN,A6QRJ0_HUMAN,A3KQT1_HUMAN		2	249	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		UPI0000129891	20					SNV	DNASE1L1,missense_variant,p.Arg20Cys,ENST00000369809,NM_001009932.1;DNASE1L1,missense_variant,p.Arg20Cys,ENST00000369808,NM_006730.2;DNASE1L1,missense_variant,p.Arg20Cys,ENST00000393638,NM_001009934.1;DNASE1L1,missense_variant,p.Arg20Cys,ENST00000014935,;DNASE1L1,missense_variant,p.Arg20Cys,ENST00000309585,NM_001009933.1;DNASE1L1,missense_variant,p.Arg20Cys,ENST00000369807,;DNASE1L1,missense_variant,p.Arg20Cys,ENST00000424626,;DNASE1L1,missense_variant,p.Arg20Cys,ENST00000451865,;DNASE1L1,missense_variant,p.Arg20Cys,ENST00000432135,;DNASE1L1,missense_variant,p.Arg20Cys,ENST00000447892,;DNASE1L1,missense_variant,p.Arg20Cys,ENST00000412184,;RPL10,intron_variant,,ENST00000428169,;RPL10,downstream_gene_variant,,ENST00000424325,NM_006013.3,NM_001256580.1,NM_001256577.1;RPL10,downstream_gene_variant,,ENST00000344746,;RPL10,downstream_gene_variant,,ENST00000369817,;RPL10,downstream_gene_variant,,ENST00000406022,;RPL10,downstream_gene_variant,,ENST00000451365,;RPL10,downstream_gene_variant,,ENST00000436473,;RPL10,downstream_gene_variant,,ENST00000449494,;RPL10,downstream_gene_variant,,ENST00000458500,;RPL10,downstream_gene_variant,,ENST00000427682,;RPL10,downstream_gene_variant,,ENST00000482732,;RPL10,downstream_gene_variant,,ENST00000489200,;RPL10,downstream_gene_variant,,ENST00000491035,;RPL10,downstream_gene_variant,,ENST00000492572,;DNASE1L1,upstream_gene_variant,,ENST00000497242,;RPL10,downstream_gene_variant,,ENST00000485196,;RPL10,downstream_gene_variant,,ENST00000467168,;	uc004fks.1	c.58C>T	852/2652	2	2			c.58C>T						23	SNP	c.(58-60)CGC>TGC	28	28				0	Broad	deoxyribonuclease I-like 1 precursor			153633852		0.607	ENSG00000013563	4579	g.chrX:153633852G>A	DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters							32.482889	KEEP	7	5	-1	14	18	7	5	-1	33.913296	14	18	0.3	1	0	0	0	0	1	0	0	0	--	--		0	A			DNASE1L1_uc004fkt.1_Missense_Mutation_p.R20C|DNASE1L1_uc004fku.1_Missense_Mutation_p.R20C|DNASE1L1_uc004fkv.1_Missense_Mutation_p.R20C|DNASE1L1_uc004fkw.1_Missense_Mutation_p.R20C	59	GBM-06-0645-TP	p.R20C	G	GCGCAGATGCGAAAGGCCTGG	NM_006730	NP_006721	153633852	P49184	DNSL1_HUMAN	0			2	249	-	A	A	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		Missense_Mutation	20						
DND1	0	broad.mit.edu	GRCh37	5	140052370	140052370	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000542735.1:c.264C>T	p.Arg88=	p.R88=	ENST00000542735	NM_194249.2	88	cgC/cgT	0			1			A	R	uc003lgt.2	protein_coding	YES	CCDS4236.1			264/1062										0	c.(262-264)CGC>CGT			PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF283,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928	dead end homolog 1				ENSP00000445366		4-Mar									COSM3409782	4-Mar	.		ENST00000542735	Transcript			multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding	ENSG00000256453	g.chr5:140052370G>A	23799			LOW								--	--	1																																			1	1			p.R88R	NM_194249	NP_919225			1	DND1_HUMAN	DND1	HGNC	Q8IYX4	DND1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				3	308	-			UPI00000741C8	88			RRM 1.		SNV	DND1,synonymous_variant,p.=,ENST00000542735,NM_194249.2;WDR55,downstream_gene_variant,,ENST00000358337,NM_017706.4;HARS,downstream_gene_variant,,ENST00000504366,;HARS,downstream_gene_variant,,ENST00000504156,NM_002109.4;HARS,downstream_gene_variant,,ENST00000457527,NM_001258041.1;HARS,downstream_gene_variant,,ENST00000448240,;HARS,downstream_gene_variant,,ENST00000438307,NM_001258040.1;HARS,downstream_gene_variant,,ENST00000307633,NM_001258042.1;HARS,downstream_gene_variant,,ENST00000431330,;HARS,downstream_gene_variant,,ENST00000415192,;HARS,downstream_gene_variant,,ENST00000507746,;WDR55,downstream_gene_variant,,ENST00000520764,;WDR55,3_prime_UTR_variant,,ENST00000504897,;WDR55,downstream_gene_variant,,ENST00000511232,;HARS,downstream_gene_variant,,ENST00000506579,;WDR55,downstream_gene_variant,,ENST00000506393,;HARS,downstream_gene_variant,,ENST00000509087,;	uc003lgt.2	c.264C>T	308/1605	1	1			c.264C>T						5	SNP	c.(262-264)CGC>CGT	52	52				0	Broad	dead end homolog 1			140052370		0.667	ENSG00000256453	4584	g.chr5:140052370G>A	multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding							4.510772	KEEP	0	3	-1	10	8	0	3	-1	6.860982	10	8	0.15	1	0	0	0	0	0	0	1	0	--	--		0	A				131	GBM-12-5301-TP	p.R88R	G	TCATCATCAGGCGGAACTCGT	NM_194249	NP_919225	140052370	Q8IYX4	DND1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	308	-	A	A			Silent	88			RRM 1.			
DNHD1	144132	broad.mit.edu	GRCh37	11	6589084	6589084	+	stop_gained	Nonsense_Mutation	SNP	T	T	G			TCGA-06-2567-01	TCGA-06-2567-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254579.6:c.12345T>G	p.Tyr4115Ter	p.Y4115*	ENST00000254579	NM_144666.2	4115	taT/taG	0			1			G	Y/*	uc001mdw.3	protein_coding	YES	CCDS44532.1			12345/14262									ovary(2)	2	c.(12343-12345)TAT>TAG			hmmpanther:PTHR10676:SF244,hmmpanther:PTHR10676,Pfam_domain:PF03028	dynein heavy chain domain 1 isoform 1				ENSP00000254579		36/43									COSM3398054	36/43	.		ENST00000254579	Transcript			microtubule-based movement	dynein complex	microtubule motor activity	ENSG00000179532	g.chr11:6589084T>G	26532			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,11,6589084,T,G&fts=all	Y4115*	--	--	1																																		DNHD1_uc001mea.3_Nonsense_Mutation_p.Y384*|DNHD1_uc001meb.2_Nonsense_Mutation_p.Y383*|DNHD1_uc001mec.2_Nonsense_Mutation_p.Y383*|DNHD1_uc010rao.1_Nonsense_Mutation_p.Y373*|DNHD1_uc009yfg.2_5'Flank	1	1			p.Y4115*	NM_144666	NP_653267			1	DNHD1_HUMAN	DNHD1	HGNC	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)			36	12909	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	UPI0001929529	4115					SNV	DNHD1,stop_gained,p.Tyr4115Ter,ENST00000254579,NM_144666.2;DNHD1,stop_gained,p.Tyr4115Ter,ENST00000527990,;DNHD1,downstream_gene_variant,,ENST00000525080,;DNHD1,upstream_gene_variant,,ENST00000527143,;DNHD1,non_coding_transcript_exon_variant,,ENST00000529821,;DNHD1,non_coding_transcript_exon_variant,,ENST00000533635,;DNHD1,non_coding_transcript_exon_variant,,ENST00000525883,;DNHD1,non_coding_transcript_exon_variant,,ENST00000530197,;DNHD1,non_coding_transcript_exon_variant,,ENST00000532467,;DNHD1,intron_variant,,ENST00000534210,;DNHD1,downstream_gene_variant,,ENST00000524401,;DNHD1,downstream_gene_variant,,ENST00000531903,;DNHD1,downstream_gene_variant,,ENST00000526027,;	uc001mdw.3	c.12345T>G	12909/14862	5	3			c.12345T>G						11	SNP	c.(12343-12345)TAT>TAG	55	55			ovary(2)	2	Broad	dynein heavy chain domain 1 isoform 1			6589084		0.562	ENSG00000179532	4586	g.chr11:6589084T>G	microtubule-based movement	dynein complex	microtubule motor activity							32.344092	KEEP	10	5	-1	15	10	10	5	-1	33.342404	15	10	0.3125	1	0	0	0	0	0	1	0	0	--	--		0	G			DNHD1_uc001mea.3_Nonsense_Mutation_p.Y384*|DNHD1_uc001meb.2_Nonsense_Mutation_p.Y383*|DNHD1_uc001mec.2_Nonsense_Mutation_p.Y383*|DNHD1_uc010rao.1_Nonsense_Mutation_p.Y373*|DNHD1_uc009yfg.2_5'Flank	89	GBM-06-2567-TP	p.Y4115*	T	CTGCCAAGTATCAGCAGGTTT	NM_144666	NP_653267	6589084	Q96M86	DNHD1_HUMAN	0		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	36	12909	+	G	G		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	Nonsense_Mutation	4115						
DNM1	0	broad.mit.edu	GRCh37	9	130965824	130965824	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6391-01	TCGA-06-6391-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372923.3:c.75G>A	p.Gln25=	p.Q25=	ENST00000372923	NM_004408.2	25	caG/caA	0			1			A	Q	uc011mau.1	protein_coding	YES	CCDS6895.1			75/2595									ovary(2)	2	c.(73-75)CAG>CAA			Gene3D:3.40.50.300,hmmpanther:PTHR11566,hmmpanther:PTHR11566:SF32,SMART_domains:SM00053,Superfamily_domains:SSF52540	dynamin 1 isoform 1				ENSP00000362014		22-Jan										22-Jan	.		ENST00000372923	Transcript	1		receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	ENSG00000106976	g.chr9:130965824G>A	2972			LOW								--	--	1																																		CIZ1_uc004btw.2_Intron|CIZ1_uc004btv.2_Intron|DNM1_uc010mxr.2_Silent_p.Q25Q|DNM1_uc011mat.1_Silent_p.Q25Q		1			p.Q25Q	NM_004408	NP_004399				DYN1_HUMAN	DNM1	HGNC	Q05193	DYN1_HUMAN					1	162	+			UPI000013CA31	25					SNV	DNM1,synonymous_variant,p.=,ENST00000341179,NM_001005336.1;DNM1,synonymous_variant,p.=,ENST00000372923,NM_004408.2,NM_001288739.1;DNM1,synonymous_variant,p.=,ENST00000393594,NM_001288737.1;DNM1,synonymous_variant,p.=,ENST00000486160,;DNM1,synonymous_variant,p.=,ENST00000475805,NM_001288738.1;CIZ1,intron_variant,,ENST00000393608,NM_012127.2;CIZ1,intron_variant,,ENST00000372948,NM_001131015.1;	uc011mau.1	c.75G>A	167/3221	2	2			c.75G>A						9	SNP	c.(73-75)CAG>CAA	18	18			ovary(2)	2	Broad	dynamin 1 isoform 1			130965824		0.692	ENSG00000106976	4588	g.chr9:130965824G>A	receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	GBM(113;146 1575 2722 28670 29921)			GBM(113;146 1575 2722 28670 29921)			10.795367	KEEP	3	1	-1	5	3	3	1	-1	11.090891	5	3	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	A			CIZ1_uc004btw.2_Intron|CIZ1_uc004btv.2_Intron|DNM1_uc010mxr.2_Silent_p.Q25Q|DNM1_uc011mat.1_Silent_p.Q25Q	107	GBM-06-6391-TP	p.Q25Q	G	CCATCGGCCAGAACGCGGACC	NM_004408	NP_004399	130965824	Q05193	DYN1_HUMAN	0			1	162	+	A	A			Silent	25						
DNM1P47	100216544		GRCh37	15	102292762	102292762	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000561463.1:n.808C>T		p.*270*	ENST00000561463				0																																																																																																																																																																																																																																												
DNM1P47	100216544		GRCh37	15	102292812	102292812	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000561463.1:n.858G>T		p.*286*	ENST00000561463				0																																																																																																																																																																																																																																												
DNM1P47	100216544		GRCh37	15	102292811	102292811	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000561463.1:n.857C>A		p.*286*	ENST00000561463				0																																																																																																																																																																																																																																												
DNM1P47	100216544		GRCh37	15	102294715	102294715	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000561463.1:n.2761C>T		p.*921*	ENST00000561463				0																																																																																																																																																																																																																																												
DNM2	1785	broad.mit.edu	GRCh37	19	10886407	10886407	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389253.4:c.414G>A	p.Pro138=	p.P138=	ENST00000389253	NM_001005361.2	138	ccG/ccA	0			1			A	P	uc002mps.1	protein_coding		CCDS45968.1			414/2613									central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6	c.(412-414)CCG>CCA			Prints_domain:PR00195,Superfamily_domains:SSF52540,SMART_domains:SM00053,Pfam_domain:PF00350,Gene3D:3.40.50.300,hmmpanther:PTHR11566:SF23,hmmpanther:PTHR11566,PROSITE_profiles:PS51718	dynamin 2 isoform 2				ENSP00000347890		21-Apr									COSM3403738,COSM3403739,COSM3403737	21-Apr	.		ENST00000355667	Transcript	1		G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	ENSG00000079805	g.chr19:10886407G>A	2974			LOW								--	--	1																																		DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Silent_p.P138P|DNM2_uc002mpv.1_Silent_p.P138P|DNM2_uc002mpu.1_Silent_p.P138P|DNM2_uc010dxl.1_Silent_p.P138P	1,1,1				p.P138P	NM_001005361	NP_001005361			1,1,1	DYN2_HUMAN	DNM2	HGNC	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		K7EPK9_HUMAN		4	578	+			UPI0000203350	138			GTP (By similarity).		SNV	DNM2,synonymous_variant,p.=,ENST00000314646,;DNM2,synonymous_variant,p.=,ENST00000359692,NM_004945.3;DNM2,synonymous_variant,p.=,ENST00000389253,NM_001005361.2;DNM2,synonymous_variant,p.=,ENST00000355667,NM_001005360.2,NM_001190716.1;DNM2,synonymous_variant,p.=,ENST00000408974,NM_001005362.2;DNM2,synonymous_variant,p.=,ENST00000585892,;DNM2,5_prime_UTR_variant,,ENST00000586939,;MIR4748,upstream_gene_variant,,ENST00000578076,;DNM2,non_coding_transcript_exon_variant,,ENST00000591819,;DNM2,non_coding_transcript_exon_variant,,ENST00000587991,;DNM2,downstream_gene_variant,,ENST00000591266,;DNM2,upstream_gene_variant,,ENST00000591701,;	uc002mps.1	c.414G>A	494/3541	1	1			c.414G>A						19	SNP	c.(412-414)CCG>CCA	52	52			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6	Broad	dynamin 2 isoform 2			10886407		0.587	ENSG00000079805	4590	g.chr19:10886407G>A	G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding							96.763819	KEEP	32	34	-1	155	219	32	34	-1	143.263148	155	219	0.141333	1	0	0	0	0	0	0	1	0	--	--		0	A			DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Silent_p.P138P|DNM2_uc002mpv.1_Silent_p.P138P|DNM2_uc002mpu.1_Silent_p.P138P|DNM2_uc010dxl.1_Silent_p.P138P	102	GBM-06-5858-TP	p.P138P	G	TCGACCTCCCGGGTATCACCA	NM_001005361	NP_001005361	10886407	P50570	DYN2_HUMAN	0	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		4	578	+	A	A			Silent	138			GTP (By similarity).			
DNM2	0	broad.mit.edu	GRCh37	19	10887808	10887808	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355667.6:c.604G>A	p.Gly202Ser	p.G202S	ENST00000355667	NM_001005360.2	202	Ggt/Agt	0			1			A	G/S	uc002mps.1	protein_coding		CCDS45968.1			604/2613									central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6	c.(604-606)GGT>AGT			Prints_domain:PR00195,Superfamily_domains:SSF52540,SMART_domains:SM00053,Pfam_domain:PF00350,Gene3D:3.40.50.300,hmmpanther:PTHR11566:SF23,hmmpanther:PTHR11566,PROSITE_profiles:PS51718	dynamin 2 isoform 2				ENSP00000347890		21-May									COSM3403741,COSM3403742,COSM3403740	21-May	.		ENST00000355667	Transcript	1		G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	ENSG00000079805	g.chr19:10887808G>A	2974			MODERATE		4.51	high	getma.org/?cm=msa&ty=f&p=DYN2_HUMAN&rb=34&re=207&var=G202S	getma.org/pdb.php?prot=DYN2_HUMAN&from=34&to=207&var=G202S	getma.org/?cm=var&var=hg19,19,10887808,G,A&fts=all	G202S	--	--	1																																		DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Missense_Mutation_p.G202S|DNM2_uc002mpv.1_Missense_Mutation_p.G202S|DNM2_uc002mpu.1_Missense_Mutation_p.G202S|DNM2_uc010dxl.1_Missense_Mutation_p.G202S	1,1,1			probably_damaging(1)	p.G202S	NM_001005361	NP_001005361		deleterious(0)	1,1,1	DYN2_HUMAN	DNM2	HGNC	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		K7EPK9_HUMAN		5	768	+			UPI0000203350	202					SNV	DNM2,missense_variant,p.Gly202Ser,ENST00000314646,;DNM2,missense_variant,p.Gly202Ser,ENST00000359692,NM_004945.3;DNM2,missense_variant,p.Gly202Ser,ENST00000389253,NM_001005361.2;DNM2,missense_variant,p.Gly202Ser,ENST00000355667,NM_001005360.2,NM_001190716.1;DNM2,missense_variant,p.Gly202Ser,ENST00000408974,NM_001005362.2;DNM2,missense_variant,p.Gly202Ser,ENST00000585892,;DNM2,missense_variant,p.Gly44Ser,ENST00000586939,;MIR4748,upstream_gene_variant,,ENST00000578076,;DNM2,non_coding_transcript_exon_variant,,ENST00000591819,;DNM2,upstream_gene_variant,,ENST00000591118,;DNM2,downstream_gene_variant,,ENST00000587991,;DNM2,downstream_gene_variant,,ENST00000591266,;DNM2,upstream_gene_variant,,ENST00000587485,;DNM2,upstream_gene_variant,,ENST00000591701,;	uc002mps.1	c.604G>A	684/3541	2	2			c.604G>A						19	SNP	c.(604-606)GGT>AGT	29	29			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6	Broad	dynamin 2 isoform 2			10887808		0.458	ENSG00000079805	4590	g.chr19:10887808G>A	G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding							-23.300517	KEEP	0	5	-1	65	79	0	5	-1	8.62875	65	79	0.030303	1	0	0	0	0	1	0	0	0	--	--		0	A			DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Missense_Mutation_p.G202S|DNM2_uc002mpv.1_Missense_Mutation_p.G202S|DNM2_uc002mpu.1_Missense_Mutation_p.G202S|DNM2_uc010dxl.1_Missense_Mutation_p.G202S	271	GBM-76-4932-TP	p.G202S	G	ACGGACCATCGGTGTCATCAC	NM_001005361	NP_001005361	10887808	P50570	DYN2_HUMAN	0	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		5	768	+	A	A			Missense_Mutation	202						
DNM2	1785		GRCh37	19	10886491	10886491	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000389253.4:c.498G>A	p.Arg166=	p.R166=	ENST00000389253	NM_001005361.2	166	cgG/cgA	0																																																																																																																																																																																																																																												
DNMBP	0	broad.mit.edu	GRCh37	10	101715528	101715528	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-27-1834-01	TCGA-27-1834-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324109.4:c.1703C>G	p.Thr568Arg	p.T568R	ENST00000324109	NM_015221.2	568	aCa/aGa	0			1			C	T/R	uc001kqj.2	protein_coding	YES	CCDS7485.1			1703/4734									ovary(5)|skin(1)	6	c.(1702-1704)ACA>AGA			hmmpanther:PTHR22834,hmmpanther:PTHR22834:SF19	dynamin binding protein				ENSP00000315659		17-Apr									COSM3396863,COSM3396864	17-Apr	.		ENST00000324109	Transcript			intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	ENSG00000107554	g.chr10:101715528G>C	30373			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=DNMBP_HUMAN&rb=495&re=694&var=T568R	NA	getma.org/?cm=var&var=hg19,10,101715528,G,C&fts=all	T568R	--	--	1																																		NCRNA00093_uc001kqk.1_RNA	1,1	1		benign(0.126)	p.T568R	NM_015221	NP_056036		tolerated(0.3)	1,1	DNMBP_HUMAN	DNMBP	HGNC	Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	B4E0Q3_HUMAN		4	1795	-		Colorectal(252;0.234)	UPI000013D6C9	568					SNV	DNMBP,missense_variant,p.Thr568Arg,ENST00000342239,;DNMBP,missense_variant,p.Thr568Arg,ENST00000324109,NM_015221.2;DNMBP-AS1,non_coding_transcript_exon_variant,,ENST00000434409,;	uc001kqj.2	c.1703C>G	1795/6400	4	4			c.1703C>G						10	SNP	c.(1702-1704)ACA>AGA	34	34			ovary(5)|skin(1)	6	Broad	dynamin binding protein			101715528		0.498	ENSG00000107554	4592	g.chr10:101715528G>C	intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity							-16.701221	KEEP	3	1	-1	60	59	3	1	-1	9.233047	60	59	0.036036	1	0	0	0	0	1	0	0	0	--	--		0	C			NCRNA00093_uc001kqk.1_RNA	193	GBM-27-1834-TP	p.T568R	G	ATCTGGCTCTGTGCCGGGCCC	NM_015221	NP_056036	101715528	Q6XZF7	DNMBP_HUMAN	0		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	4	1795	-	C	C		Colorectal(252;0.234)	Missense_Mutation	568						
DNMBP	0	broad.mit.edu	GRCh37	10	101716779	101716779	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs138795130		TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324109.4:c.452G>A	p.Arg151Gln	p.R151Q	ENST00000324109	NM_015221.2	151	cGg/cAg	0	T:0		1			T	R/Q	uc001kqj.2	protein_coding	YES	CCDS7485.1			452/4734									ovary(5)|skin(1)	6	c.(451-453)CGG>CAG			Gene3D:2.30.30.40,Prints_domain:PR00499,PROSITE_profiles:PS50002,hmmpanther:PTHR22834,hmmpanther:PTHR22834:SF19,SMART_domains:SM00326,Superfamily_domains:SSF50044	dynamin binding protein			T:0.0001	ENSP00000315659		17-Apr	4.12E-05					6.02E-05	0.0011		rs138795130,COSM2057687,COSM2057688	17-Apr	.		ENST00000324109	Transcript			intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	ENSG00000107554	g.chr10:101716779C>T	30373			MODERATE		1.22	low	getma.org/?cm=msa&ty=f&p=DNMBP_HUMAN&rb=151&re=196&var=R151Q	getma.org/pdb.php?prot=DNMBP_HUMAN&from=151&to=196&var=R151Q	getma.org/?cm=var&var=hg19,10,101716779,C,T&fts=all	R151Q	--	--	1																																		NCRNA00093_uc001kqk.1_RNA	0,1,1	1		probably_damaging(0.988)	p.R151Q	NM_015221	NP_056036		deleterious(0.02)	0,1,1	DNMBP_HUMAN	DNMBP	HGNC	Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	B4E0Q3_HUMAN		4	544	-		Colorectal(252;0.234)	UPI000013D6C9	151			SH3 3.		SNV	DNMBP,missense_variant,p.Arg151Gln,ENST00000342239,;DNMBP,missense_variant,p.Arg151Gln,ENST00000324109,NM_015221.2;DNMBP-AS1,non_coding_transcript_exon_variant,,ENST00000434409,;	uc001kqj.2	c.452G>A	544/6400	1	1			c.452G>A						10	SNP	c.(451-453)CGG>CAG	3	3			ovary(5)|skin(1)	6	Broad	dynamin binding protein			101716779		0.557	ENSG00000107554	4592	g.chr10:101716779C>T	intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity							85.370004	KEEP	10	19	-1	20	35	10	19	-1	86.393239	20	35	0.376623	1	0	0	0	0	1	0	0	0	--	--		0	T			NCRNA00093_uc001kqk.1_RNA	229	GBM-32-1977-TP	p.R151Q	C	CATTAGGGCCCGGGCTTGTCC	NM_015221	NP_056036	101716779	Q6XZF7	DNMBP_HUMAN	0		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	4	544	-	T	T		Colorectal(252;0.234)	Missense_Mutation	151			SH3 3.			
DNMBP	0	broad.mit.edu	GRCh37	10	101716663	101716663	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324109.4:c.568C>T	p.Arg190Ter	p.R190*	ENST00000324109	NM_015221.2	190	Cga/Tga	0			1			A	R/*	uc001kqj.2	protein_coding	YES	CCDS7485.1			568/4734									ovary(5)|skin(1)	6	c.(568-570)CGA>TGA			Gene3D:2.30.30.40,Pfam_domain:PF14604,Prints_domain:PR00499,PROSITE_profiles:PS50002,hmmpanther:PTHR22834,hmmpanther:PTHR22834:SF19,SMART_domains:SM00326,Superfamily_domains:SSF50044	dynamin binding protein				ENSP00000315659		17-Apr									COSM3396865,COSM3396866	17-Apr	.		ENST00000324109	Transcript			intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	ENSG00000107554	g.chr10:101716663G>A	30373			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,10,101716663,G,A&fts=all	R190*	--	--	1																																		NCRNA00093_uc001kqk.1_RNA	1,1	1			p.R190*	NM_015221	NP_056036			1,1	DNMBP_HUMAN	DNMBP	HGNC	Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	B4E0Q3_HUMAN		4	660	-		Colorectal(252;0.234)	UPI000013D6C9	190			SH3 3.		SNV	DNMBP,stop_gained,p.Arg190Ter,ENST00000342239,;DNMBP,stop_gained,p.Arg190Ter,ENST00000324109,NM_015221.2;DNMBP-AS1,non_coding_transcript_exon_variant,,ENST00000434409,;	uc001kqj.2	c.568C>T	660/6400	5	2			c.568C>T						10	SNP	c.(568-570)CGA>TGA	17	17			ovary(5)|skin(1)	6	Broad	dynamin binding protein			101716663		0.488	ENSG00000107554	4592	g.chr10:101716663G>A	intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity							-17.382895	KEEP	1	4	-1	36	86	1	4	-1	8.251779	36	86	0.036364	1	0	0	0	0	0	1	0	0	--	--		0	A			NCRNA00093_uc001kqk.1_RNA	230	GBM-32-1979-TP	p.R190*	G	ATGCCTCTTCGGCCCTCTAAC	NM_015221	NP_056036	101716663	Q6XZF7	DNMBP_HUMAN	0		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	4	660	-	A	A		Colorectal(252;0.234)	Nonsense_Mutation	190			SH3 3.			
DNMT1	0	broad.mit.edu	GRCh37	19	10288042	10288042	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G			TCGA-26-5133-01	TCGA-26-5133-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340748.4:c.447T>C	p.Pro149=	p.P149=	ENST00000340748		149	ccT/ccC	0			1			G	P	uc002mng.2	protein_coding		CCDS12228.1			447/4851									ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6	c.(445-447)CCT>CCC			PIRSF_domain:PIRSF037404	DNA (cytosine-5-)-methyltransferase 1 isoform b	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)			ENSP00000345739		May-40									COSM3403703	May-40	.		ENST00000340748	Transcript	1		chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	ENSG00000130816	g.chr19:10288042A>G	2976			LOW								--	--	1																																		DNMT1_uc010xlc.1_Silent_p.A165A|DNMT1_uc002mnh.2_Silent_p.A44A|DNMT1_uc010xld.1_Silent_p.P149P|DNMT1_uc010dxb.1_RNA	1				p.P149P	NM_001379	NP_001370			1	DNMT1_HUMAN	DNMT1	HGNC	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		K7ERQ1_HUMAN,K7ENQ6_HUMAN,K7EKC3_HUMAN,B3KVA0_HUMAN		5	627	-			UPI0000129694	149			Interaction with DNMT3B.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		SNV	DNMT1,splice_region_variant,p.=,ENST00000340748,;DNMT1,splice_region_variant,p.=,ENST00000540357,NM_001379.2;DNMT1,splice_region_variant,p.=,ENST00000359526,NM_001130823.1;DNMT1,splice_region_variant,p.=,ENST00000588118,;DNMT1,splice_region_variant,p.=,ENST00000588952,;DNMT1,splice_region_variant,p.=,ENST00000592342,;DNMT1,splice_region_variant,p.=,ENST00000592054,;DNMT1,splice_region_variant,p.=,ENST00000590619,;DNMT1,downstream_gene_variant,,ENST00000586800,;DNMT1,downstream_gene_variant,,ENST00000586086,;DNMT1,splice_region_variant,,ENST00000592705,;DNMT1,splice_region_variant,,ENST00000586988,;	uc002mng.2	c.447T>C	683/5408	4	4			c.447T>C						19	SNP	c.(445-447)CCT>CCC	21	21			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6	Broad	DNA (cytosine-5-)-methyltransferase 1 isoform b		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	10288042		0.398	ENSG00000130816	4593	g.chr19:10288042A>G	chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			705			705	-14.558761	KEEP	1	2	-1	49	48	1	2	-1	7.391659	49	48	0.032609	1	0	0	0	0	0	0	1	0	--	--		0	G			DNMT1_uc010xlc.1_Silent_p.A165A|DNMT1_uc002mnh.2_Silent_p.A44A|DNMT1_uc010xld.1_Silent_p.P149P|DNMT1_uc010dxb.1_RNA	182	GBM-26-5133-TP	p.P149P	A	GTGAAGGTTCAGCTGTTTAAA	NM_001379	NP_001370	10288042	P26358	DNMT1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		5	627	-	G	G			Silent	149			Interaction with DNMT3B.|Interaction with the PRC2/EED-EZH2 complex (By similarity).			
DNMT1	0	broad.mit.edu	GRCh37	19	10262139	10262139	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-32-4719-01	TCGA-32-4719-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340748.4:c.2152delA	p.Met718CysfsTer59	p.M718Cfs*59	ENST00000340748		718	Atg/tg	0			1			-	M/X	uc002mng.2	protein_coding		CCDS12228.1			2152/4851									ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6	c.(2152-2154)ATGfs			PIRSF_domain:PIRSF037404,hmmpanther:PTHR10629,hmmpanther:PTHR10629:SF11,Low_complexity_(Seg):seg	DNA (cytosine-5-)-methyltransferase 1 isoform b	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)			ENSP00000345739		23/40									COSM1390025	23/40	.		ENST00000340748	Transcript	1		chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	ENSG00000130816	g.chr19:10262139delT	2976			HIGH								--	--	1																																		DNMT1_uc010xlc.1_Frame_Shift_Del_p.M734fs|DNMT1_uc002mnh.2_Frame_Shift_Del_p.M613fs|DNMT1_uc010xld.1_Frame_Shift_Del_p.M718fs	1				p.M718fs	NM_001379	NP_001370			1	DNMT1_HUMAN	DNMT1	HGNC	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		K7ERQ1_HUMAN,K7ENQ6_HUMAN,K7EKC3_HUMAN,B3KVA0_HUMAN		23	2332	-			UPI0000129694	718					deletion	DNMT1,frameshift_variant,p.Met718CysfsTer59,ENST00000340748,;DNMT1,frameshift_variant,p.Met718CysfsTer59,ENST00000540357,NM_001379.2;DNMT1,frameshift_variant,p.Met734CysfsTer59,ENST00000359526,NM_001130823.1;DNMT1,3_prime_UTR_variant,,ENST00000592705,;DNMT1,3_prime_UTR_variant,,ENST00000586799,;DNMT1,non_coding_transcript_exon_variant,,ENST00000586667,;DNMT1,downstream_gene_variant,,ENST00000585843,;	uc002mng.2	c.2152delA	2388/5408	5	5			c.2152delA						19	DEL	c.(2152-2154)ATGfs	31	31			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6	Broad	DNA (cytosine-5-)-methyltransferase 1 isoform b		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	10262139		0.507	ENSG00000130816	4593	g.chr19:10262139delT	chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			705			705														0.02	1	1	0	1	0	0	0	0	0	--	--		0	-			DNMT1_uc010xlc.1_Frame_Shift_Del_p.M734fs|DNMT1_uc002mnh.2_Frame_Shift_Del_p.M613fs|DNMT1_uc010xld.1_Frame_Shift_Del_p.M718fs	248	GBM-32-4719-TP	p.M718fs	T	CCCTGGTGCATTTTTTTGGGT	NM_001379	NP_001370	10262139	P26358	DNMT1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		23	2332	-	-	-			Frame_Shift_Del	718						
DNTT	1791	broad.mit.edu	GRCh37	10	98079146	98079146	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01	TCGA-06-0174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371174.2:c.506C>T	p.Thr169Met	p.T169M	ENST00000371174		169	aCg/aTg	0			1			T	T/M	uc001kmf.2	protein_coding	YES	CCDS7447.1			506/1530									ovary(1)	1	c.(505-507)ACG>ATG			hmmpanther:PTHR11276:SF21,hmmpanther:PTHR11276,Gene3D:1.10.150.110,Pfam_domain:PF14716,PIRSF_domain:PIRSF501175,SMART_domains:SM00483,PIRSF_domain:PIRSF000817,Superfamily_domains:SSF47802,Prints_domain:PR00871	terminal deoxynucleotidyltransferase isoform 1				ENSP00000360216		11-Mar	8.24E-06		8.65E-05						rs747158808,COSM1675461	11-Mar	.		ENST00000371174	Transcript			DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	ENSG00000107447	g.chr10:98079146C>T	2983			MODERATE		2.71	medium	getma.org/?cm=msa&ty=f&p=TDT_HUMAN&rb=112&re=248&var=T169M	getma.org/pdb.php?prot=TDT_HUMAN&from=112&to=248&var=T169M	getma.org/?cm=var&var=hg19,10,98079146,C,T&fts=all	T169M	--	--	1																																		DNTT_uc001kmg.2_Missense_Mutation_p.T169M	0,1	1		probably_damaging(0.999)	p.T169M	NM_004088	NP_004079		deleterious(0)	0,1	TDT_HUMAN	DNTT	HGNC	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)			3	676	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	UPI000013C84B	169			Mediates interaction with DNTTIP2.		SNV	DNTT,missense_variant,p.Thr169Met,ENST00000419175,NM_004088.3,NM_001017520.1;DNTT,missense_variant,p.Thr169Met,ENST00000371174,;	uc001kmf.2	c.506C>T	608/1972	1	1			c.506C>T						10	SNP	c.(505-507)ACG>ATG	3	3			ovary(1)	1	Broad	terminal deoxynucleotidyltransferase isoform 1			98079146		0.448	ENSG00000107447	4598	g.chr10:98079146C>T	DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding							434.737797	KEEP	76	66	-1	7	12	76	66	-1	454.534225	7	12	0.874126	1	0	0	0	0	1	0	0	0	--	--		0	T			DNTT_uc001kmg.2_Missense_Mutation_p.T169M	37	GBM-06-0174-TP	p.T169M	C	CAGATATTCACGGTAACGGGA	NM_004088	NP_004079	98079146	P04053	TDT_HUMAN	0		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	3	676	+	T	T		Colorectal(252;0.0815)|all_hematologic(284;0.224)	Missense_Mutation	169			Mediates interaction with DNTTIP2.			
DNTTIP1	116092	broad.mit.edu	GRCh37	20	44431987	44431987	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-2565-01	TCGA-06-2565-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372622.3:c.573C>A	p.Ser191=	p.S191=	ENST00000372622	NM_052951.2	191	tcC/tcA	0			1			A	S	uc002xpk.2	protein_coding	YES	CCDS13369.1			573/990									ovary(1)|central_nervous_system(1)	2	c.(571-573)TCC>TCA			hmmpanther:PTHR23399,hmmpanther:PTHR23399:SF1	terminal deoxynucleotidyltransferase interacting				ENSP00000361705		13-Aug									COSM1027282	13-Aug	.		ENST00000372622	Transcript				nucleus		ENSG00000101457	g.chr20:44431987C>A	16160			LOW								--	--	1																																			1	1			p.S191S	NM_052951	NP_443183			1	TDIF1_HUMAN	DNTTIP1	HGNC	Q9H147	TDIF1_HUMAN			F2Z2A4_HUMAN		8	641	+		Myeloproliferative disorder(115;0.0122)	UPI0000136B4E	191					SNV	DNTTIP1,synonymous_variant,p.=,ENST00000372622,NM_052951.2;DNTTIP1,synonymous_variant,p.=,ENST00000456939,;DNTTIP1,synonymous_variant,p.=,ENST00000435014,;DNTTIP1,downstream_gene_variant,,ENST00000415790,;DNTTIP1,non_coding_transcript_exon_variant,,ENST00000467701,;	uc002xpk.2	c.573C>A	641/1290	1	1			c.573C>A						20	SNP	c.(571-573)TCC>TCA	64	64			ovary(1)|central_nervous_system(1)	2	Broad	terminal deoxynucleotidyltransferase interacting			44431987		0.493	ENSG00000101457	4599	g.chr20:44431987C>A		nucleus								78.551277	KEEP	12	19	0.612903226	39	50	12	19	0.612903226	83.550549	39	50	0.269231	1	0	0	0	0	0	0	1	0	--	--		0	A				88	GBM-06-2565-TP	p.S191S	C	AACCAAAATCCTGTGAACCAA	NM_052951	NP_443183	44431987	Q9H147	TDIF1_HUMAN	0			8	641	+	A	A		Myeloproliferative disorder(115;0.0122)	Silent	191						
DOCK1	1793	broad.mit.edu	GRCh37	10	129231688	129231688	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0152-01	TCGA-06-0152-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000280333.6:c.4993G>T	p.Asp1665Tyr	p.D1665Y	ENST00000280333	NM_001380.3	1665	Gac/Tac	0			1			T	D/Y	uc001ljt.2	protein_coding	YES				4993/5598								p.D1665Y(1)	central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9	c.(4993-4995)GAC>TAC			Low_complexity_(Seg):seg,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF79	dedicator of cytokinesis 1				ENSP00000280333		48/52									COSM42662	48/52	.		ENST00000280333	Transcript			apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	ENSG00000150760	g.chr10:129231688G>T	2987			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=DOCK1_HUMAN&rb=1611&re=1810&var=D1665Y	NA	getma.org/?cm=var&var=hg19,10,129231688,G,T&fts=all	D1665Y	--	--	1																																		DOCK1_uc010qun.1_Missense_Mutation_p.D1686Y|DOCK1_uc009yaq.2_Missense_Mutation_p.D660Y	1	1		probably_damaging(0.974)	p.D1665Y	NM_001380	NP_001371		deleterious(0.01)	1	DOCK1_HUMAN	DOCK1	HGNC	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)			48	5057	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	UPI0000246CA1	1665					SNV	DOCK1,missense_variant,p.Asp1665Tyr,ENST00000280333,NM_001380.3;	uc001ljt.2	c.4993G>T	5102/6797	1	1			c.4993G>T						10	SNP	c.(4993-4995)GAC>TAC	7	7		p.D1665Y(1)	central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9	Broad	dedicator of cytokinesis 1			129231688		0.597	ENSG00000150760	4602	g.chr10:129231688G>T	apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding							104.128865	KEEP	20	19	0.512820513	12	18	20	19	0.512820513	104.418044	12	18	0.57377	1	0	0	0	0	1	0	0	0	--	--		0	T			DOCK1_uc010qun.1_Missense_Mutation_p.D1686Y|DOCK1_uc009yaq.2_Missense_Mutation_p.D660Y	25	GBM-06-0152-TP	p.D1665Y	G	ACCAGGCTCCGACGGGTGAGT	NM_001380	NP_001371	129231688	Q14185	DOCK1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	48	5057	+	T	T		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	Missense_Mutation	1665						
DOCK10	55619	broad.mit.edu	GRCh37	2	225729691	225729691	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-0221-01	TCGA-06-0221-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258390.7:c.1371G>T	p.Gly457=	p.G457=	ENST00000258390	NM_014689.2	457	ggG/ggT	0			1			A	G	uc010fwz.1	protein_coding	YES	CCDS46528.1			1371/6561									ovary(2)	2	c.(1369-1371)GGG>GGT			hmmpanther:PTHR23317:SF71,hmmpanther:PTHR23317	dedicator of cytokinesis 10				ENSP00000258390		Dec-56									COSM3407619,COSM3407620	Dec-56	.		ENST00000258390	Transcript					GTP binding	ENSG00000135905	g.chr2:225729691C>A	23479			LOW								--	--	1																																		DOCK10_uc002vob.2_Silent_p.G451G|DOCK10_uc002vod.1_Silent_p.G457G	1,1	1			p.G457G	NM_014689	NP_055504			1,1	DOC10_HUMAN	DOCK10	HGNC	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	Q4ZG60_HUMAN,Q3LIC8_HUMAN		12	1610	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	UPI000021D2A7	457					SNV	DOCK10,synonymous_variant,p.=,ENST00000409592,;DOCK10,synonymous_variant,p.=,ENST00000258390,NM_014689.2;DOCK10,non_coding_transcript_exon_variant,,ENST00000492369,;	uc010fwz.1	c.1371G>T	1439/7260	1	1			c.1371G>T						2	SNP	c.(1369-1371)GGG>GGT	49	49			ovary(2)	2	Broad	dedicator of cytokinesis 10			225729691		0.458	ENSG00000135905	4603	g.chr2:225729691C>A			GTP binding							-55.462247	KEEP	6	5	0.454545455	140	165	6	5	0.454545455	14.213334	140	165	0.028169	1	0	0	0	0	0	0	1	0	--	--		0	A			DOCK10_uc002vob.2_Silent_p.G451G|DOCK10_uc002vod.1_Silent_p.G457G	53	GBM-06-0221-TP	p.G457G	C	CCACAGAAGCCCCCAAGAGCA	NM_014689	NP_055504	225729691	Q96BY6	DOC10_HUMAN	0		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	12	1610	-	A	A		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	Silent	457						
DOCK10	55619	broad.mit.edu	GRCh37	2	225706579	225706579	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0744-01	TCGA-06-0744-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258390.7:c.2603A>G	p.Gln868Arg	p.Q868R	ENST00000258390	NM_014689.2	868	cAa/cGa	0			1			C	Q/R	uc010fwz.1	protein_coding	YES	CCDS46528.1			2603/6561									ovary(2)	2	c.(2602-2604)CAA>CGA			hmmpanther:PTHR23317:SF71,hmmpanther:PTHR23317	dedicator of cytokinesis 10				ENSP00000258390		23/56									COSM2151662,COSM3407618	23/56	.		ENST00000258390	Transcript					GTP binding	ENSG00000135905	g.chr2:225706579T>C	23479			MODERATE		2.155	medium	getma.org/?cm=msa&ty=f&p=DOC10_HUMAN&rb=673&re=913&var=Q868R	NA	getma.org/?cm=var&var=hg19,2,225706579,T,C&fts=all	Q868R	--	--	1																																		DOCK10_uc002vob.2_Missense_Mutation_p.Q862R	1,1	1		possibly_damaging(0.493)	p.Q868R	NM_014689	NP_055504		deleterious(0)	1,1	DOC10_HUMAN	DOCK10	HGNC	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	Q4ZG60_HUMAN,Q3LIC8_HUMAN		23	2842	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	UPI000021D2A7	868			DHR-1.		SNV	DOCK10,missense_variant,p.Gln862Arg,ENST00000409592,;DOCK10,missense_variant,p.Gln868Arg,ENST00000258390,NM_014689.2;DOCK10,upstream_gene_variant,,ENST00000472652,;	uc010fwz.1	c.2603A>G	2671/7260	4	4			c.2603A>G						2	SNP	c.(2602-2604)CAA>CGA	33	33			ovary(2)	2	Broad	dedicator of cytokinesis 10			225706579		0.383	ENSG00000135905	4603	g.chr2:225706579T>C			GTP binding							232.008825	KEEP	50	34	-1	60	58	50	34	-1	232.982459	60	58	0.420455	1	0	0	0	0	1	0	0	0	--	--		0	C			DOCK10_uc002vob.2_Missense_Mutation_p.Q862R	66	GBM-06-0744-TP	p.Q868R	T	CTCTCTTTTTTGGCACTCTTG	NM_014689	NP_055504	225706579	Q96BY6	DOC10_HUMAN	0		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	23	2842	-	C	C		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	Missense_Mutation	868			DHR-1.			
DOCK10	0	broad.mit.edu	GRCh37	2	225666723	225666723	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-16-1045-01	TCGA-16-1045-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258390.7:c.4303C>T	p.Gln1435Ter	p.Q1435*	ENST00000258390	NM_014689.2	1435	Cag/Tag	0			1			A	Q/*	uc010fwz.1	protein_coding	YES	CCDS46528.1			4303/6561									ovary(2)	2	c.(4303-4305)CAG>TAG			hmmpanther:PTHR23317:SF71,hmmpanther:PTHR23317	dedicator of cytokinesis 10				ENSP00000258390		40/56									COSM3407616,COSM3407617	40/56	.		ENST00000258390	Transcript					GTP binding	ENSG00000135905	g.chr2:225666723G>A	23479			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,225666723,G,A&fts=all	Q1435*	--	--	1																																		DOCK10_uc002vob.2_Nonsense_Mutation_p.Q1429*|DOCK10_uc002voa.2_Nonsense_Mutation_p.Q91*|DOCK10_uc002voc.2_Nonsense_Mutation_p.Q289*	1,1	1			p.Q1435*	NM_014689	NP_055504			1,1	DOC10_HUMAN	DOCK10	HGNC	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	Q4ZG60_HUMAN,Q3LIC8_HUMAN		40	4542	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	UPI000021D2A7	1435					SNV	DOCK10,stop_gained,p.Gln1429Ter,ENST00000409592,;DOCK10,stop_gained,p.Gln1435Ter,ENST00000258390,NM_014689.2;DOCK10,stop_gained,p.Gln317Ter,ENST00000422684,;	uc010fwz.1	c.4303C>T	4371/7260	5	2			c.4303C>T						2	SNP	c.(4303-4305)CAG>TAG	22	22			ovary(2)	2	Broad	dedicator of cytokinesis 10			225666723		0.378	ENSG00000135905	4603	g.chr2:225666723G>A			GTP binding							174.363667	KEEP	31	36	-1	82	79	31	36	-1	181.994255	82	79	0.303167	1	0	0	0	0	0	1	0	0	--	--		0	A			DOCK10_uc002vob.2_Nonsense_Mutation_p.Q1429*|DOCK10_uc002voa.2_Nonsense_Mutation_p.Q91*|DOCK10_uc002voc.2_Nonsense_Mutation_p.Q289*	157	GBM-16-1045-TP	p.Q1435*	G	GATCTGTGCTGCTTATGGCCT	NM_014689	NP_055504	225666723	Q96BY6	DOC10_HUMAN	0		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	40	4542	-	A	A		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	Nonsense_Mutation	1435						
DOCK10	55619		GRCh37	2	225670162	225670162	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000258390.7:c.3899A>G	p.Asn1300Ser	p.N1300S	ENST00000258390	NM_014689.2	1300	aAt/aGt	0																																																																																																																																																																																																																																												
DOCK11	0	broad.mit.edu	GRCh37	X	117722099	117722099	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T			TCGA-19-2619-01	TCGA-19-2619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276202.7:c.1796-1G>T		p.X599_splice	ENST00000276202	NM_144658.3			0			1			T		uc004eqp.2	protein_coding	YES	CCDS35373.1			1796/6222									ovary(3)	3	c.e17-1				dedicator of cytokinesis 11				ENSP00000276202											COSM3405869		.		ENST00000276202	Transcript			blood coagulation	cytosol	GTP binding	ENSG00000147251	g.chrX:117722099G>T	23483			HIGH	16/52							--	--	1																																		DOCK11_uc004eqq.2_Splice_Site_p.N365_splice	1	1			p.N599_splice	NM_144658	NP_653259			1	DOC11_HUMAN	DOCK11	HGNC	Q5JSL3	DOC11_HUMAN			B3KNP4_HUMAN		17	1859	+			UPI000022DB8F						SNV	DOCK11,splice_acceptor_variant,,ENST00000276204,;DOCK11,splice_acceptor_variant,,ENST00000276202,NM_144658.3;	uc004eqp.2	c.1796_splice	-/6625	5	2			c.1796_splice						23	SNP	c.e17-1	32	32			ovary(3)	3	Broad	dedicator of cytokinesis 11			117722099		0.318	ENSG00000147251	4604	g.chrX:117722099G>T	blood coagulation	cytosol	GTP binding							185.218338	KEEP	45	23	0.661764706	44	53	45	23	0.661764706	186.135326	44	53	0.416107	1	0	0	0	0	0	0	0	1	--	--		0	T			DOCK11_uc004eqq.2_Splice_Site_p.N365_splice	161	GBM-19-2619-TP	p.N599_splice	G	CCCTGCTATAGATTGTATTAC	NM_144658	NP_653259	117722099	Q5JSL3	DOC11_HUMAN	0			17	1859	+	T	T			Splice_Site							
DOCK11	0	broad.mit.edu	GRCh37	X	117748723	117748723	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276202.7:c.3168delC	p.Asp1058IlefsTer25	p.D1058Ifs*25	ENST00000276202	NM_144658.3	1055	agC/ag	0			1			-	S/X	uc004eqp.2	protein_coding	YES	CCDS35373.1			3165/6222									ovary(3)	3	c.(3163-3165)AGCfs			hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF81,Superfamily_domains:SSF48371	dedicator of cytokinesis 11				ENSP00000276202		29/53										29/53	.		ENST00000276202	Transcript			blood coagulation	cytosol	GTP binding	ENSG00000147251	g.chrX:117748723delC	23483	3		HIGH								--	--	1																																		DOCK11_uc004eqq.2_Frame_Shift_Del_p.S821fs		1			p.S1055fs	NM_144658	NP_653259				DOC11_HUMAN	DOCK11	HGNC	Q5JSL3	DOC11_HUMAN			B3KNP4_HUMAN		29	3228	+			UPI000022DB8F	1055					deletion	DOCK11,frameshift_variant,p.Asp1058IlefsTer25,ENST00000276204,;DOCK11,frameshift_variant,p.Asp1058IlefsTer25,ENST00000276202,NM_144658.3;	uc004eqp.2	c.3165delC	3228/6625	5	5			c.3165delC						23	DEL	c.(3163-3165)AGCfs	53	53			ovary(3)	3	Broad	dedicator of cytokinesis 11			117748723		0.343	ENSG00000147251	4604	g.chrX:117748723delC	blood coagulation	cytosol	GTP binding																				0.72	1	1	0	1	0	0	0	0	0	--	--		0	-			DOCK11_uc004eqq.2_Frame_Shift_Del_p.S821fs	218	GBM-28-5209-TP	p.S1055fs	C	CTGGATTCAGCCCCAAAGATC	NM_144658	NP_653259	117748723	Q5JSL3	DOC11_HUMAN	0			29	3228	+	-	-			Frame_Shift_Del	1055						
DOCK11	0	broad.mit.edu	GRCh37	X	117748686	117748686	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-41-3393-01	TCGA-41-3393-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276202.7:c.3128T>C	p.Ile1043Thr	p.I1043T	ENST00000276202	NM_144658.3	1043	aTt/aCt	0			1			C	I/T	uc004eqp.2	protein_coding	YES	CCDS35373.1			3128/6222									ovary(3)	3	c.(3127-3129)ATT>ACT			hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF81,Superfamily_domains:SSF48371	dedicator of cytokinesis 11				ENSP00000276202		29/53									COSM3405870	29/53	.		ENST00000276202	Transcript			blood coagulation	cytosol	GTP binding	ENSG00000147251	g.chrX:117748686T>C	23483			MODERATE		0.785	neutral	getma.org/?cm=msa&ty=f&p=DOC11_HUMAN&rb=1029&re=1228&var=I1043T	NA	getma.org/?cm=var&var=hg19,X,117748686,T,C&fts=all	I1043T	--	--	1																																		DOCK11_uc004eqq.2_Missense_Mutation_p.I809T	1	1		benign(0.002)	p.I1043T	NM_144658	NP_653259		tolerated(0.13)	1	DOC11_HUMAN	DOCK11	HGNC	Q5JSL3	DOC11_HUMAN			B3KNP4_HUMAN		29	3191	+			UPI000022DB8F	1043					SNV	DOCK11,missense_variant,p.Ile1043Thr,ENST00000276204,;DOCK11,missense_variant,p.Ile1043Thr,ENST00000276202,NM_144658.3;	uc004eqp.2	c.3128T>C	3191/6625	3	3			c.3128T>C						23	SNP	c.(3127-3129)ATT>ACT	57	57			ovary(3)	3	Broad	dedicator of cytokinesis 11			117748686		0.299	ENSG00000147251	4604	g.chrX:117748686T>C	blood coagulation	cytosol	GTP binding							244.91671	KEEP	47	61	-1	170	180	47	61	-1	269.535561	170	180	0.237852	1	0	0	0	0	1	0	0	0	--	--		0	C			DOCK11_uc004eqq.2_Missense_Mutation_p.I809T	255	GBM-41-3393-TP	p.I1043T	T	AGAGGATTTATTTTCAATTTA	NM_144658	NP_653259	117748686	Q5JSL3	DOC11_HUMAN	0			29	3191	+	C	C			Missense_Mutation	1043						
DOCK2	1794	broad.mit.edu	GRCh37	5	169108785	169108785	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256935.8:c.508G>A	p.Gly170Arg	p.G170R	ENST00000256935	NM_004946.2	170	Gga/Aga	0			1			A	G/R	uc003maf.2	protein_coding	YES	CCDS4371.1			508/5493									ovary(5)|pancreas(2)	7	c.(508-510)GGA>AGA			hmmpanther:PTHR23317:SF73,hmmpanther:PTHR23317	dedicator of cytokinesis 2				ENSP00000256935		Jul-52									COSM207853	Jul-52	.		ENST00000256935	Transcript			actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	ENSG00000134516	g.chr5:169108785G>A	2988			MODERATE		3.11	medium	getma.org/?cm=msa&ty=f&p=DOCK2_HUMAN&rb=67&re=266&var=G170R	NA	getma.org/?cm=var&var=hg19,5,169108785,G,A&fts=all	G170R	--	--	1																																		DOCK2_uc011der.1_RNA	1	1		probably_damaging(0.997)	p.G170R	NM_004946	NP_004937		deleterious(0)	1	DOCK2_HUMAN	DOCK2	HGNC	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Q5XG91_HUMAN,B3KXW9_HUMAN		7	588	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	UPI00001A38CC	170					SNV	DOCK2,missense_variant,p.Gly170Arg,ENST00000256935,NM_004946.2;DOCK2,non_coding_transcript_exon_variant,,ENST00000522138,;DOCK2,missense_variant,p.Gly170Arg,ENST00000524185,;	uc003maf.2	c.508G>A	588/6097	2	2			c.508G>A						5	SNP	c.(508-510)GGA>AGA	45	45			ovary(5)|pancreas(2)	7	Broad	dedicator of cytokinesis 2			169108785		0.413	ENSG00000134516	4605	g.chr5:169108785G>A	actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding							196.321709	KEEP	28	39	-1	50	63	28	39	-1	198.747811	50	63	0.371257	1	0	0	0	0	1	0	0	0	--	--		0	A			DOCK2_uc011der.1_RNA	18	GBM-06-0137-TP	p.G170R	G	AGATGAAGACGGAAATATCTT	NM_004946	NP_004937	169108785	Q92608	DOCK2_HUMAN	0	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	588	+	A	A	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Missense_Mutation	170						
DOCK2	1794	broad.mit.edu	GRCh37	5	169122848	169122848	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0878-01	TCGA-06-0878-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256935.8:c.885G>T	p.Leu295Phe	p.L295F	ENST00000256935	NM_004946.2	295	ttG/ttT	0			1			T	L/F	uc003maf.2	protein_coding	YES	CCDS4371.1			885/5493									ovary(5)|pancreas(2)	7	c.(883-885)TTG>TTT			hmmpanther:PTHR23317:SF73,hmmpanther:PTHR23317	dedicator of cytokinesis 2				ENSP00000256935		Oct-52									COSM2152224	Oct-52	.		ENST00000256935	Transcript			actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	ENSG00000134516	g.chr5:169122848G>T	2988			MODERATE		1.46	low	getma.org/?cm=msa&ty=f&p=DOCK2_HUMAN&rb=267&re=417&var=L295F	NA	getma.org/?cm=var&var=hg19,5,169122848,G,T&fts=all	L295F	--	--	1																																		DOCK2_uc011der.1_RNA	1	1		benign(0.177)	p.L295F	NM_004946	NP_004937		tolerated(0.18)	1	DOCK2_HUMAN	DOCK2	HGNC	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Q5XG91_HUMAN,B3KXW9_HUMAN		10	965	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	UPI00001A38CC	295					SNV	DOCK2,missense_variant,p.Leu295Phe,ENST00000256935,NM_004946.2;DOCK2,non_coding_transcript_exon_variant,,ENST00000523684,;DOCK2,non_coding_transcript_exon_variant,,ENST00000519734,;DOCK2,missense_variant,p.Leu295Phe,ENST00000524185,;DOCK2,upstream_gene_variant,,ENST00000519223,;	uc003maf.2	c.885G>T	965/6097	1	1			c.885G>T						5	SNP	c.(883-885)TTG>TTT	1	1			ovary(5)|pancreas(2)	7	Broad	dedicator of cytokinesis 2			169122848		0.463	ENSG00000134516	4605	g.chr5:169122848G>T	actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding							170.95515	KEEP	36	31	0.537313433	50	72	36	31	0.537313433	174.200193	50	72	0.355932	1	0	0	0	0	1	0	0	0	--	--		0	T			DOCK2_uc011der.1_RNA	74	GBM-06-0878-TP	p.L295F	G	AAATTTACTTGATTTGTCAAA	NM_004946	NP_004937	169122848	Q92608	DOCK2_HUMAN	0	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		10	965	+	T	T	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Missense_Mutation	295						
DOCK2	0	broad.mit.edu	GRCh37	5	169508958	169508958	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2624-01	TCGA-19-2624-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256935.8:c.5400G>A	p.Arg1800=	p.R1800=	ENST00000256935	NM_004946.2	1800	cgG/cgA	0			1			A	R	uc003maf.2	protein_coding	YES	CCDS4371.1			5400/5493									ovary(5)|pancreas(2)	7	c.(5398-5400)CGG>CGA				dedicator of cytokinesis 2				ENSP00000256935		51/52									COSM3410135	51/52	.		ENST00000256935	Transcript			actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	ENSG00000134516	g.chr5:169508958G>A	2988			LOW								--	--	1																																		DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.R1292R|DOCK2_uc003mah.2_Silent_p.R356R	1	1			p.R1800R	NM_004946	NP_004937			1	DOCK2_HUMAN	DOCK2	HGNC	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Q5XG91_HUMAN,B3KXW9_HUMAN		51	5480	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	UPI00001A38CC	1800					SNV	DOCK2,synonymous_variant,p.=,ENST00000256935,NM_004946.2;DOCK2,synonymous_variant,p.=,ENST00000520908,;DOCK2,synonymous_variant,p.=,ENST00000540750,;DOCK2,non_coding_transcript_exon_variant,,ENST00000523351,;DOCK2,3_prime_UTR_variant,,ENST00000524185,;DOCK2,non_coding_transcript_exon_variant,,ENST00000519868,;DOCK2,non_coding_transcript_exon_variant,,ENST00000520450,;	uc003maf.2	c.5400G>A	5480/6097	2	2			c.5400G>A						5	SNP	c.(5398-5400)CGG>CGA	33	33			ovary(5)|pancreas(2)	7	Broad	dedicator of cytokinesis 2			169508958		0.527	ENSG00000134516	4605	g.chr5:169508958G>A	actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding							-12.166255	KEEP	0	4	-1	47	45	0	4	-1	7.529745	47	45	0.044944	1	0	0	0	0	0	0	1	0	--	--		0	A			DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.R1292R|DOCK2_uc003mah.2_Silent_p.R356R	164	GBM-19-2624-TP	p.R1800R	G	CACTCACACGGAAGAAGGTCA	NM_004946	NP_004937	169508958	Q92608	DOCK2_HUMAN	0	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		51	5480	+	A	A	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Silent	1800						
DOCK2	0	broad.mit.edu	GRCh37	5	169098173	169098174	+	frameshift_variant	Frame_Shift_Del	DEL	TA	TA	-			TCGA-19-5958-01	TCGA-19-5958-01	TA	TA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256935.8:c.317_318delAT	p.Tyr106CysfsTer34	p.Y106Cfs*34	ENST00000256935	NM_004946.2	106	TAt/t	0			1			-	Y/X	uc003maf.2	protein_coding	YES	CCDS4371.1			316-317/5493									ovary(5)|pancreas(2)	7	c.(316-318)TATfs			hmmpanther:PTHR23317:SF73,hmmpanther:PTHR23317	dedicator of cytokinesis 2				ENSP00000256935		May-52									COSM2156820	May-52	.		ENST00000256935	Transcript			actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	ENSG00000134516	g.chr5:169098173_169098174delTA	2988	1		HIGH								--	--	1																																		DOCK2_uc011der.1_RNA	1	1			p.Y106fs	NM_004946	NP_004937			1	DOCK2_HUMAN	DOCK2	HGNC	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Q5XG91_HUMAN,B3KXW9_HUMAN		5	396_397	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	UPI00001A38CC	106					deletion	DOCK2,frameshift_variant,p.Tyr106CysfsTer34,ENST00000256935,NM_004946.2;DOCK2,non_coding_transcript_exon_variant,,ENST00000522138,;DOCK2,frameshift_variant,p.Tyr106CysfsTer34,ENST00000524185,;	uc003maf.2	c.316_317delTA	396-397/6097	5	5			c.316_317delTA						5	DEL	c.(316-318)TATfs	51	51			ovary(5)|pancreas(2)	7	Broad	dedicator of cytokinesis 2			169098174		0.441	ENSG00000134516	4605	g.chr5:169098173_169098174delTA	actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding																				0.26	1	1	0	1	0	0	0	0	0	--	--		0	-			DOCK2_uc011der.1_RNA	176	GBM-19-5958-TP	p.Y106fs	TA	GAAACAACTCTATGTGGTGAGA	NM_004946	NP_004937	169098173	Q92608	DOCK2_HUMAN	0	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	396_397	+	-	-	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Frame_Shift_Del	106						
DOCK2	0	broad.mit.edu	GRCh37	5	169506008	169506008	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01	TCGA-27-2523-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256935.8:c.5024C>T	p.Thr1675Met	p.T1675M	ENST00000256935	NM_004946.2	1675	aCg/aTg	0	T:0.0002	T:0.0008	1	T:0		T	T/M	uc003maf.2	protein_coding	YES	CCDS4371.1			5024/5493									ovary(5)|pancreas(2)	7	c.(5023-5025)ACG>ATG				dedicator of cytokinesis 2		T:0	T:0	ENSP00000256935	T:0	49/52	7.41E-05	0.000192				6.00E-05		0.000182	rs201322810,COSM1328912	49/52	.		ENST00000256935	Transcript		T:0.0002	actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	ENSG00000134516	g.chr5:169506008C>T	2988			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=DOCK2_HUMAN&rb=1616&re=1815&var=T1675M	NA	getma.org/?cm=var&var=hg19,5,169506008,C,T&fts=all	T1675M	--	--	1																																		DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.T1167M|DOCK2_uc003mah.2_Missense_Mutation_p.T231M	0,1	1		benign(0.064)	p.T1675M	NM_004946	NP_004937	T:0	tolerated(0.18)	0,1	DOCK2_HUMAN	DOCK2	HGNC	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Q5XG91_HUMAN,B3KXW9_HUMAN		49	5104	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	UPI00001A38CC	1675					SNV	DOCK2,missense_variant,p.Thr1675Met,ENST00000256935,NM_004946.2;DOCK2,missense_variant,p.Thr1167Met,ENST00000520908,;DOCK2,missense_variant,p.Thr736Met,ENST00000540750,;DOCK2,non_coding_transcript_exon_variant,,ENST00000523351,;DOCK2,3_prime_UTR_variant,,ENST00000524185,;DOCK2,non_coding_transcript_exon_variant,,ENST00000519868,;DOCK2,non_coding_transcript_exon_variant,,ENST00000520450,;	uc003maf.2	c.5024C>T	5104/6097	2	2			c.5024C>T						5	SNP	c.(5023-5025)ACG>ATG	44	44			ovary(5)|pancreas(2)	7	Broad	dedicator of cytokinesis 2			169506008		0.557	ENSG00000134516	4605	g.chr5:169506008C>T	actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding							261.258927	KEEP	49	59	-1	71	88	49	59	-1	263.821345	71	88	0.390041	1	0	0	0	0	1	0	0	0	--	--		0	T			DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.T1167M|DOCK2_uc003mah.2_Missense_Mutation_p.T231M	201	GBM-27-2523-TP	p.T1675M	C	TCACCCAAGACGCCGAGAGTG	NM_004946	NP_004937	169506008	Q92608	DOCK2_HUMAN	0	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		49	5104	+	T	T	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Missense_Mutation	1675						
DOCK2	0	broad.mit.edu	GRCh37	5	169097547	169097547	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01	TCGA-32-1977-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256935.8:c.170G>A	p.Gly57Asp	p.G57D	ENST00000256935	NM_004946.2	57	gGc/gAc	0			1			A	G/D	uc003maf.2	protein_coding	YES	CCDS4371.1			170/5493									ovary(5)|pancreas(2)	7	c.(169-171)GGC>GAC			PROSITE_profiles:PS50002,hmmpanther:PTHR23317:SF73,hmmpanther:PTHR23317,Pfam_domain:PF07653,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044	dedicator of cytokinesis 2				ENSP00000256935		Apr-52									COSM3410134	Apr-52	.		ENST00000256935	Transcript			actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	ENSG00000134516	g.chr5:169097547G>A	2988			MODERATE		4.025	high	getma.org/?cm=msa&ty=f&p=DOCK2_HUMAN&rb=12&re=66&var=G57D	getma.org/pdb.php?prot=DOCK2_HUMAN&from=12&to=66&var=G57D	getma.org/?cm=var&var=hg19,5,169097547,G,A&fts=all	G57D	--	--	1																																		DOCK2_uc011der.1_RNA	1	1		probably_damaging(0.991)	p.G57D	NM_004946	NP_004937		deleterious(0)	1	DOCK2_HUMAN	DOCK2	HGNC	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Q5XG91_HUMAN,B3KXW9_HUMAN		4	250	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	UPI00001A38CC	57			SH3.		SNV	DOCK2,missense_variant,p.Gly57Asp,ENST00000256935,NM_004946.2;DOCK2,splice_region_variant,,ENST00000522138,;DOCK2,missense_variant,p.Gly57Asp,ENST00000524185,;	uc003maf.2	c.170G>A	250/6097	2	2			c.170G>A						5	SNP	c.(169-171)GGC>GAC	47	47			ovary(5)|pancreas(2)	7	Broad	dedicator of cytokinesis 2			169097547		0.328	ENSG00000134516	4605	g.chr5:169097547G>A	actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding							-18.757944	KEEP	2	1	-1	70	48	2	1	-1	8.068871	70	48	0.027523	1	0	0	0	0	1	0	0	0	--	--		0	A			DOCK2_uc011der.1_RNA	229	GBM-32-1977-TP	p.G57D	G	ttCCAACAGGGCATTTTTCCT	NM_004946	NP_004937	169097547	Q92608	DOCK2_HUMAN	0	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	250	+	A	A	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Missense_Mutation	57			SH3.			
DOCK3	0	broad.mit.edu	GRCh37	3	51418534	51418534	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266037.9:c.5637C>T	p.Asp1879=	p.D1879=	ENST00000266037	NM_004947.4	1879	gaC/gaT	0			1			T	D	uc011bds.1	protein_coding	YES	CCDS46835.1			5637/6093										0	c.(5635-5637)GAC>GAT				dedicator of cytokinesis 3				ENSP00000266037		53/53	8.24E-06					1.51E-05			rs782753395,COSM3408772,COSM3408771	53/53	.		ENST00000266037	Transcript				cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	ENSG00000088538	g.chr3:51418534C>T	2989			LOW								--	--	1																																			0,1,1	1			p.D1879D	NM_004947	NP_004938			0,1,1	DOCK3_HUMAN	DOCK3	HGNC	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)			53	5660	+			UPI000007412C	1879					SNV	DOCK3,synonymous_variant,p.=,ENST00000266037,NM_004947.4;MANF,upstream_gene_variant,,ENST00000528157,NM_006010.4;MANF,upstream_gene_variant,,ENST00000470900,;MANF,upstream_gene_variant,,ENST00000446668,;	uc011bds.1	c.5637C>T	5660/8755	2	2			c.5637C>T						3	SNP	c.(5635-5637)GAC>GAT	17	17				0	Broad	dedicator of cytokinesis 3			51418534		0.617	ENSG00000088538	4606	g.chr3:51418534C>T		cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			1034			1034	186.938504	KEEP	39	47	-1	73	103	39	47	-1	190.381344	73	103	0.357513	1	0	0	0	0	0	0	1	0	--	--		0	T				249	GBM-32-5222-TP	p.D1879D	C	CAGGTCTGGACGGCAGCAACT	NM_004947	NP_004938	51418534	Q8IZD9	DOCK3_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	53	5660	+	T	T			Silent	1879						
DOCK4	9732	broad.mit.edu	GRCh37	7	111395650	111395650	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0876-01	TCGA-06-0876-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000437633.1:c.4310G>A	p.Trp1437Ter	p.W1437*	ENST00000437633	NM_014705.3	1437	tGg/tAg	0			1			T	W/*	uc003vfx.2	protein_coding	YES	CCDS47688.1			4310/5901									ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4	c.(4309-4311)TGG>TAG			Pfam_domain:PF06920,PROSITE_profiles:PS51651,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF75	dedicator of cytokinesis 4				ENSP00000404179		41/52									COSM3411476,COSM3411475,COSM3411477	41/52	.		ENST00000437633	Transcript			cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	ENSG00000128512	g.chr7:111395650C>T	19192			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,111395650,C,T&fts=all	W1437*	--	--	1																																		DOCK4_uc011kml.1_Nonsense_Mutation_p.W318*|DOCK4_uc011kmm.1_Nonsense_Mutation_p.W344*|DOCK4_uc003vfw.2_Nonsense_Mutation_p.W887*|DOCK4_uc003vfy.2_Nonsense_Mutation_p.W1482*	1,1,1	1			p.W1437*	NM_014705	NP_055520			1,1,1	DOCK4_HUMAN	DOCK4	HGNC	Q8N1I0	DOCK4_HUMAN			Q75MU6_HUMAN		41	4579	-		Acute lymphoblastic leukemia(1;0.0441)	UPI0000D5BB0D	1437			DHR-2.		SNV	DOCK4,stop_gained,p.Trp1446Ter,ENST00000428084,;DOCK4,stop_gained,p.Trp898Ter,ENST00000423057,;DOCK4,stop_gained,p.Trp1437Ter,ENST00000437633,NM_014705.3;DOCK4,stop_gained,p.Trp1470Ter,ENST00000445943,;DOCK4,stop_gained,p.Trp320Ter,ENST00000494651,;DOCK4,downstream_gene_variant,,ENST00000428053,;	uc003vfx.2	c.4310G>A	4567/6212	5	1			c.4310G>A						7	SNP	c.(4309-4311)TGG>TAG	14	14			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4	Broad	dedicator of cytokinesis 4			111395650		0.453	ENSG00000128512	4607	g.chr7:111395650C>T	cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding							21.416984	KEEP	10	3	-1	51	30	10	3	-1	30.535993	51	30	0.158537	1	0	0	0	0	0	1	0	0	--	--		0	T			DOCK4_uc011kml.1_Nonsense_Mutation_p.W318*|DOCK4_uc011kmm.1_Nonsense_Mutation_p.W344*|DOCK4_uc003vfw.2_Nonsense_Mutation_p.W887*|DOCK4_uc003vfy.2_Nonsense_Mutation_p.W1482*	72	GBM-06-0876-TP	p.W1437*	C	TCTCTCCACCCAGAGACTCTA	NM_014705	NP_055520	111395650	Q8N1I0	DOCK4_HUMAN	0			41	4579	-	T	T		Acute lymphoblastic leukemia(1;0.0441)	Nonsense_Mutation	1437			DHR-2.			
DOCK4	9732		GRCh37	7	111585795	111585795	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000437633.1:c.760G>C	p.Glu254Gln	p.E254Q	ENST00000437633	NM_014705.3	254	Gaa/Caa	0																																																																																																																																																																																																																																												
DOCK4	9732		GRCh37	7	111540437	111540437	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000437633.1:c.1473T>G	p.His491Gln	p.H491Q	ENST00000437633	NM_014705.3	491	caT/caG	0																																																																																																																																																																																																																																												
DOCK5	80005	broad.mit.edu	GRCh37	8	25158172	25158172	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0124-01	TCGA-06-0124-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276440.7:c.845C>G	p.Thr282Arg	p.T282R	ENST00000276440	NM_024940.6	282	aCa/aGa	0			1			G	T/R	uc003xeg.2	protein_coding	YES	CCDS6047.1			845/5613									ovary(3)	3	c.(844-846)ACA>AGA			hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF68	dedicator of cytokinesis 5				ENSP00000276440		Sep-52									COSM3412937	Sep-52	.		ENST00000276440	Transcript				cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	ENSG00000147459	g.chr8:25158172C>G	23476			MODERATE		2.865	medium	getma.org/?cm=msa&ty=f&p=DOCK5_HUMAN&rb=262&re=437&var=T282R	NA	getma.org/?cm=var&var=hg19,8,25158172,C,G&fts=all	T282R	--	--	1																																		DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Intron|DOCK5_uc003xef.2_Missense_Mutation_p.T282R	1	1		benign(0.398)	p.T282R	NM_024940	NP_079216		deleterious(0)	1	DOCK5_HUMAN	DOCK5	HGNC	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)			9	982	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	UPI000022D4F3	282					SNV	DOCK5,missense_variant,p.Thr282Arg,ENST00000276440,NM_024940.6;DOCK5,missense_variant,p.Thr282Arg,ENST00000481100,;DOCK5,intron_variant,,ENST00000444569,;DOCK5,downstream_gene_variant,,ENST00000495236,;	uc003xeg.2	c.845C>G	889/10075	3	3			c.845C>G						8	SNP	c.(844-846)ACA>AGA	7	7			ovary(3)	3	Broad	dedicator of cytokinesis 5			25158172		0.363	ENSG00000147459	4608	g.chr8:25158172C>G		cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	Pancreas(145;34 1887 3271 10937 30165)			Pancreas(145;34 1887 3271 10937 30165)			7.114116	KEEP	2	1	-1	14	1	2	1	-1	8.791173	14	1	0.176471	1	0	0	0	0	1	0	0	0	--	--		0	G			DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Intron|DOCK5_uc003xef.2_Missense_Mutation_p.T282R	11	GBM-06-0124-TP	p.T282R	C	GCAGTGTTTACAGTAAGTCCT	NM_024940	NP_079216	25158172	Q9H7D0	DOCK5_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	9	982	+	G	G		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	Missense_Mutation	282						
DOCK5	80005	broad.mit.edu	GRCh37	8	25156484	25156484	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276440.7:c.631C>T	p.Arg211Trp	p.R211W	ENST00000276440	NM_024940.6	211	Cgg/Tgg	0			1			T	R/W	uc003xeg.2	protein_coding	YES	CCDS6047.1			631/5613									ovary(3)	3	c.(631-633)CGG>TGG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF68	dedicator of cytokinesis 5				ENSP00000276440		Aug-52	6.59E-05		8.79E-05			9.06E-05			rs776922979,COSM2149373	Aug-52	.		ENST00000276440	Transcript				cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	ENSG00000147459	g.chr8:25156484C>T	23476			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=DOCK5_HUMAN&rb=62&re=261&var=R211W	NA	getma.org/?cm=var&var=hg19,8,25156484,C,T&fts=all	R211W	--	--	1																																		DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_5'UTR|DOCK5_uc003xef.2_Missense_Mutation_p.R211W	0,1	1		benign(0.013)	p.R211W	NM_024940	NP_079216		deleterious(0.04)	0,1	DOCK5_HUMAN	DOCK5	HGNC	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)			8	768	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	UPI000022D4F3	211					SNV	DOCK5,missense_variant,p.Arg211Trp,ENST00000276440,NM_024940.6;DOCK5,missense_variant,p.Ala10Val,ENST00000444569,;DOCK5,missense_variant,p.Arg211Trp,ENST00000481100,;DOCK5,non_coding_transcript_exon_variant,,ENST00000495236,;	uc003xeg.2	c.631C>T	675/10075	2	2			c.631C>T						8	SNP	c.(631-633)CGG>TGG	20	20			ovary(3)	3	Broad	dedicator of cytokinesis 5			25156484		0.418	ENSG00000147459	4608	g.chr8:25156484C>T		cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	Pancreas(145;34 1887 3271 10937 30165)			Pancreas(145;34 1887 3271 10937 30165)			34.059608	KEEP	5	9	-1	18	18	5	9	-1	36.010144	18	18	0.282609	1	0	0	0	0	1	0	0	0	--	--		0	T			DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_5'UTR|DOCK5_uc003xef.2_Missense_Mutation_p.R211W	12	GBM-06-0125-TP	p.R211W	C	CCTCGATTTGCGGGGCCAGTC	NM_024940	NP_079216	25156484	Q9H7D0	DOCK5_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	8	768	+	T	T		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	Missense_Mutation	211						
DOCK5	80005	broad.mit.edu	GRCh37	8	25222153	25222153	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs148483229	byFrequency;by1000genomes	TCGA-06-0155-01	TCGA-06-0155-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276440.7:c.3056G>A	p.Arg1019His	p.R1019H	ENST00000276440	NM_024940.6	1019	cGt/cAt	0	A:0.0002	A:0.0023	1	A:0		A	R/H	uc003xeg.2	protein_coding	YES	CCDS6047.1			3056/5613									ovary(3)	3	c.(3055-3057)CGT>CAT			hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF68	dedicator of cytokinesis 5		A:0	A:0.0002	ENSP00000276440	A:0.001	30/52	0.000115	0.000949				0.000186		9.83E-05	rs148483229,COSM2149994	30/52	common_variant		ENST00000276440	Transcript		A:0.0008		cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	ENSG00000147459	g.chr8:25222153G>A	23476			MODERATE		2.34	medium	getma.org/?cm=msa&ty=f&p=DOCK5_HUMAN&rb=838&re=1037&var=R1019H	NA	getma.org/?cm=var&var=hg19,8,25222153,G,A&fts=all	R1019H	--	--	1																																		DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.R733H|DOCK5_uc003xei.2_Missense_Mutation_p.R589H|DOCK5_uc003xej.2_RNA	0,1	1		possibly_damaging(0.803)	p.R1019H	NM_024940	NP_079216	A:0	deleterious(0.01)	0,1	DOCK5_HUMAN	DOCK5	HGNC	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)			30	3193	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	UPI000022D4F3	1019					SNV	DOCK5,missense_variant,p.Arg1019His,ENST00000276440,NM_024940.6;DOCK5,missense_variant,p.Arg791His,ENST00000444569,;DOCK5,3_prime_UTR_variant,,ENST00000467709,;DOCK5,non_coding_transcript_exon_variant,,ENST00000481728,;	uc003xeg.2	c.3056G>A	3100/10075	2	2			c.3056G>A						8	SNP	c.(3055-3057)CGT>CAT	35	35			ovary(3)	3	Broad	dedicator of cytokinesis 5			25222153		0.413	ENSG00000147459	4608	g.chr8:25222153G>A		cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	Pancreas(145;34 1887 3271 10937 30165)			Pancreas(145;34 1887 3271 10937 30165)			28.438416	KEEP	7	6	-1	11	9	7	6	-1	28.943244	11	9	0.357143	1	0	0	0	0	1	0	0	0	--	--		0	A			DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.R733H|DOCK5_uc003xei.2_Missense_Mutation_p.R589H|DOCK5_uc003xej.2_RNA	27	GBM-06-0155-TP	p.R1019H	G	GTTTTTCTCCGTGCTATAAAT	NM_024940	NP_079216	25222153	Q9H7D0	DOCK5_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	30	3193	+	A	A		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	Missense_Mutation	1019						
DOCK5	80005	broad.mit.edu	GRCh37	8	25191663	25191663	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01	TCGA-06-0174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276440.7:c.2143G>A	p.Val715Ile	p.V715I	ENST00000276440	NM_024940.6	715	Gta/Ata	0			1			A	V/I	uc003xeg.2	protein_coding	YES	CCDS6047.1			2143/5613									ovary(3)	3	c.(2143-2145)GTA>ATA			hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF68,Superfamily_domains:SSF48371	dedicator of cytokinesis 5				ENSP00000276440		21/52									COSM3412941	21/52	.		ENST00000276440	Transcript				cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	ENSG00000147459	g.chr8:25191663G>A	23476			MODERATE		3.32	medium	getma.org/?cm=msa&ty=f&p=DOCK5_HUMAN&rb=638&re=837&var=V715I	NA	getma.org/?cm=var&var=hg19,8,25191663,G,A&fts=all	V715I	--	--	1																																		DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.V429I|DOCK5_uc003xei.2_Missense_Mutation_p.V285I|DOCK5_uc003xej.2_RNA	1	1		possibly_damaging(0.467)	p.V715I	NM_024940	NP_079216		deleterious(0)	1	DOCK5_HUMAN	DOCK5	HGNC	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)			21	2280	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	UPI000022D4F3	715					SNV	DOCK5,missense_variant,p.Val715Ile,ENST00000276440,NM_024940.6;DOCK5,missense_variant,p.Val487Ile,ENST00000444569,;DOCK5,missense_variant,p.Val122Ile,ENST00000467709,;	uc003xeg.2	c.2143G>A	2187/10075	2	2			c.2143G>A						8	SNP	c.(2143-2145)GTA>ATA	18	18			ovary(3)	3	Broad	dedicator of cytokinesis 5			25191663		0.368	ENSG00000147459	4608	g.chr8:25191663G>A		cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	Pancreas(145;34 1887 3271 10937 30165)			Pancreas(145;34 1887 3271 10937 30165)			324.333954	KEEP	63	64	-1	86	76	63	64	-1	324.983635	86	76	0.444898	1	0	0	0	0	1	0	0	0	--	--		0	A			DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.V429I|DOCK5_uc003xei.2_Missense_Mutation_p.V285I|DOCK5_uc003xej.2_RNA	37	GBM-06-0174-TP	p.V715I	G	TTTTAATCCTGTACTTGAAAC	NM_024940	NP_079216	25191663	Q9H7D0	DOCK5_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	21	2280	+	A	A		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	Missense_Mutation	715						
DOCK5	80005	broad.mit.edu	GRCh37	8	25167952	25167952	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01	TCGA-06-0744-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276440.7:c.1222G>A	p.Gly408Ser	p.G408S	ENST00000276440	NM_024940.6	408	Ggt/Agt	0			1			A	G/S	uc003xeg.2	protein_coding	YES	CCDS6047.1			1222/5613									ovary(3)	3	c.(1222-1224)GGT>AGT			hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF68	dedicator of cytokinesis 5				ENSP00000276440		13/52									COSM2151628	13/52	.		ENST00000276440	Transcript				cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	ENSG00000147459	g.chr8:25167952G>A	23476			MODERATE		3.045	medium	getma.org/?cm=msa&ty=f&p=DOCK5_HUMAN&rb=262&re=437&var=G408S	NA	getma.org/?cm=var&var=hg19,8,25167952,G,A&fts=all	G408S	--	--	1																																		DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.G122S|DOCK5_uc003xei.2_5'UTR	1	1		probably_damaging(1)	p.G408S	NM_024940	NP_079216		deleterious(0.01)	1	DOCK5_HUMAN	DOCK5	HGNC	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)			13	1359	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	UPI000022D4F3	408					SNV	DOCK5,missense_variant,p.Gly408Ser,ENST00000276440,NM_024940.6;DOCK5,missense_variant,p.Gly180Ser,ENST00000444569,;DOCK5,non_coding_transcript_exon_variant,,ENST00000478099,;DOCK5,upstream_gene_variant,,ENST00000487948,;	uc003xeg.2	c.1222G>A	1266/10075	1	1			c.1222G>A						8	SNP	c.(1222-1224)GGT>AGT	57	57			ovary(3)	3	Broad	dedicator of cytokinesis 5			25167952		0.408	ENSG00000147459	4608	g.chr8:25167952G>A		cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	Pancreas(145;34 1887 3271 10937 30165)			Pancreas(145;34 1887 3271 10937 30165)			84.730966	KEEP	23	6	-1	34	17	23	6	-1	86.060964	34	17	0.356164	1	0	0	0	0	1	0	0	0	--	--		0	A			DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.G122S|DOCK5_uc003xei.2_5'UTR	66	GBM-06-0744-TP	p.G408S	G	GCTCTTGCCCGGTGACCTCAC	NM_024940	NP_079216	25167952	Q9H7D0	DOCK5_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	13	1359	+	A	A		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	Missense_Mutation	408						
DOCK5	80005	broad.mit.edu	GRCh37	8	25225732	25225732	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0879-01	TCGA-06-0879-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276440.7:c.3249C>T	p.Ile1083=	p.I1083=	ENST00000276440	NM_024940.6	1083	atC/atT	0			1			T	I	uc003xeg.2	protein_coding	YES	CCDS6047.1			3249/5613									ovary(3)	3	c.(3247-3249)ATC>ATT			hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF68,Superfamily_domains:SSF48371	dedicator of cytokinesis 5				ENSP00000276440		32/52	2.47E-05	0.000111				3.57E-05			rs780661201,COSM2152283	32/52	.		ENST00000276440	Transcript				cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	ENSG00000147459	g.chr8:25225732C>T	23476			LOW								--	--	1																																		DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Silent_p.I797I|DOCK5_uc003xei.2_Silent_p.I653I|DOCK5_uc003xej.2_RNA	0,1	1			p.I1083I	NM_024940	NP_079216			0,1	DOCK5_HUMAN	DOCK5	HGNC	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)			32	3386	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	UPI000022D4F3	1083					SNV	DOCK5,synonymous_variant,p.=,ENST00000276440,NM_024940.6;DOCK5,synonymous_variant,p.=,ENST00000444569,;DOCK5,3_prime_UTR_variant,,ENST00000467709,;DOCK5,downstream_gene_variant,,ENST00000481728,;	uc003xeg.2	c.3249C>T	3293/10075	1	1			c.3249C>T						8	SNP	c.(3247-3249)ATC>ATT	3	3			ovary(3)	3	Broad	dedicator of cytokinesis 5			25225732		0.413	ENSG00000147459	4608	g.chr8:25225732C>T		cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	Pancreas(145;34 1887 3271 10937 30165)			Pancreas(145;34 1887 3271 10937 30165)			24.861372	KEEP	4	8	-1	17	8	4	8	-1	26.237513	17	8	0.28125	1	0	0	0	0	0	0	1	0	--	--		0	T			DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Silent_p.I797I|DOCK5_uc003xei.2_Silent_p.I653I|DOCK5_uc003xej.2_RNA	75	GBM-06-0879-TP	p.I1083I	C	GAAAGGAAATCGGCTTTAGAA	NM_024940	NP_079216	25225732	Q9H7D0	DOCK5_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	32	3386	+	T	T		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	Silent	1083						
DOCK5	80005	broad.mit.edu	GRCh37	8	25203034	25203034	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-1804-01	TCGA-06-1804-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276440.7:c.2661C>T	p.Ser887=	p.S887=	ENST00000276440	NM_024940.6	887	agC/agT	0			1			T	S	uc003xeg.2	protein_coding	YES	CCDS6047.1			2661/5613									ovary(3)	3	c.(2659-2661)AGC>AGT			hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF68,Superfamily_domains:SSF48371	dedicator of cytokinesis 5				ENSP00000276440		26/52	4.12E-05					3.00E-05		0.000182	rs746351602,COSM2152508	26/52	.		ENST00000276440	Transcript				cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	ENSG00000147459	g.chr8:25203034C>T	23476			LOW								--	--	1																																		DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Silent_p.S601S|DOCK5_uc003xei.2_Silent_p.S457S|DOCK5_uc003xej.2_RNA	0,1	1			p.S887S	NM_024940	NP_079216			0,1	DOCK5_HUMAN	DOCK5	HGNC	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)			26	2798	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	UPI000022D4F3	887					SNV	DOCK5,synonymous_variant,p.=,ENST00000276440,NM_024940.6;DOCK5,synonymous_variant,p.=,ENST00000444569,;DOCK5,3_prime_UTR_variant,,ENST00000467709,;	uc003xeg.2	c.2661C>T	2705/10075	2	2			c.2661C>T						8	SNP	c.(2659-2661)AGC>AGT	47	47			ovary(3)	3	Broad	dedicator of cytokinesis 5			25203034		0.557	ENSG00000147459	4608	g.chr8:25203034C>T		cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	Pancreas(145;34 1887 3271 10937 30165)			Pancreas(145;34 1887 3271 10937 30165)			149.123676	KEEP	19	38	-1	56	55	19	38	-1	151.705054	56	55	0.36	1	0	0	0	0	0	0	1	0	--	--		0	T			DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Silent_p.S601S|DOCK5_uc003xei.2_Silent_p.S457S|DOCK5_uc003xej.2_RNA	79	GBM-06-1804-TP	p.S887S	C	ACCAGCTCAGCGGCCAGTTAG	NM_024940	NP_079216	25203034	Q9H7D0	DOCK5_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	26	2798	+	T	T		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	Silent	887						
DOCK5	80005	broad.mit.edu	GRCh37	8	25181427	25181427	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-5859-01	TCGA-06-5859-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276440.7:c.1679C>A	p.Thr560Asn	p.T560N	ENST00000276440	NM_024940.6	560	aCc/aAc	0			1			A	T/N	uc003xeg.2	protein_coding	YES	CCDS6047.1			1679/5613									ovary(3)	3	c.(1678-1680)ACC>AAC			Pfam_domain:PF14429,PROSITE_profiles:PS51650,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF68	dedicator of cytokinesis 5				ENSP00000276440		17/52									COSM2153408	17/52	.		ENST00000276440	Transcript				cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	ENSG00000147459	g.chr8:25181427C>A	23476			MODERATE		3.31	medium	getma.org/?cm=msa&ty=f&p=DOCK5_HUMAN&rb=438&re=637&var=T560N	getma.org/pdb.php?prot=DOCK5_HUMAN&from=438&to=637&var=T560N	getma.org/?cm=var&var=hg19,8,25181427,C,A&fts=all	T560N	--	--	1																																		DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.T274N|DOCK5_uc003xei.2_Missense_Mutation_p.T130N|DOCK5_uc003xej.2_5'Flank	1	1		probably_damaging(0.946)	p.T560N	NM_024940	NP_079216		deleterious(0)	1	DOCK5_HUMAN	DOCK5	HGNC	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)			17	1816	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	UPI000022D4F3	560			DHR-1.		SNV	DOCK5,missense_variant,p.Thr560Asn,ENST00000276440,NM_024940.6;DOCK5,missense_variant,p.Thr332Asn,ENST00000444569,;DOCK5,upstream_gene_variant,,ENST00000467709,;	uc003xeg.2	c.1679C>A	1723/10075	2	2			c.1679C>A						8	SNP	c.(1678-1680)ACC>AAC	28	28			ovary(3)	3	Broad	dedicator of cytokinesis 5			25181427		0.488	ENSG00000147459	4608	g.chr8:25181427C>A		cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	Pancreas(145;34 1887 3271 10937 30165)			Pancreas(145;34 1887 3271 10937 30165)			18.377166	KEEP	3	6	0.666666667	8	8	3	6	0.666666667	18.865313	8	8	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	A			DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.T274N|DOCK5_uc003xei.2_Missense_Mutation_p.T130N|DOCK5_uc003xej.2_5'Flank	103	GBM-06-5859-TP	p.T560N	C	CCGGATGGCACCACTCTGCAG	NM_024940	NP_079216	25181427	Q9H7D0	DOCK5_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	17	1816	+	A	A		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	Missense_Mutation	560			DHR-1.			
DOCK5	0	broad.mit.edu	GRCh37	8	25246735	25246735	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5951-01	TCGA-19-5951-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276440.7:c.4260G>A	p.Ser1420=	p.S1420=	ENST00000276440	NM_024940.6	1420	tcG/tcA	0		A:0	1	A:0.0014		A	S	uc003xeg.2	protein_coding	YES	CCDS6047.1			4260/5613									ovary(3)	3	c.(4258-4260)TCG>TCA			PROSITE_profiles:PS51651,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF68	dedicator of cytokinesis 5		A:0		ENSP00000276440	A:0	41/52	3.29E-05	9.61E-05	8.64E-05					0.000121	rs566691068,COSM2156653	41/52	.		ENST00000276440	Transcript		A:0.0002		cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	ENSG00000147459	g.chr8:25246735G>A	23476			LOW								--	--	1																																		PPP2R2A_uc003xek.2_Silent_p.S209S|DOCK5_uc003xei.2_Silent_p.S990S|DOCK5_uc003xej.2_RNA	0,1	1			p.S1420S	NM_024940	NP_079216	A:0		0,1	DOCK5_HUMAN	DOCK5	HGNC	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)			41	4397	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	UPI000022D4F3	1420			DHR-2.		SNV	DOCK5,synonymous_variant,p.=,ENST00000276440,NM_024940.6;DOCK5,3_prime_UTR_variant,,ENST00000467709,;DOCK5,upstream_gene_variant,,ENST00000463457,;	uc003xeg.2	c.4260G>A	4304/10075	2	2			c.4260G>A						8	SNP	c.(4258-4260)TCG>TCA	21	21			ovary(3)	3	Broad	dedicator of cytokinesis 5			25246735		0.567	ENSG00000147459	4608	g.chr8:25246735G>A		cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	Pancreas(145;34 1887 3271 10937 30165)			Pancreas(145;34 1887 3271 10937 30165)			193.879506	KEEP	30	40	-1	32	41	30	40	-1	193.929008	32	41	0.520661	1	0	0	0	0	0	0	1	0	--	--		0	A			PPP2R2A_uc003xek.2_Silent_p.S209S|DOCK5_uc003xei.2_Silent_p.S990S|DOCK5_uc003xej.2_RNA	171	GBM-19-5951-TP	p.S1420S	G	ACATCAAGTCGTCCCCCAAGC	NM_024940	NP_079216	25246735	Q9H7D0	DOCK5_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	41	4397	+	A	A		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	Silent	1420			DHR-2.			
DOCK5	0	broad.mit.edu	GRCh37	8	25225732	25225732	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276440.7:c.3249C>T	p.Ile1083=	p.I1083=	ENST00000276440	NM_024940.6	1083	atC/atT	0			1			T	I	uc003xeg.2	protein_coding	YES	CCDS6047.1			3249/5613									ovary(3)	3	c.(3247-3249)ATC>ATT			hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF68,Superfamily_domains:SSF48371	dedicator of cytokinesis 5				ENSP00000276440		32/52	2.47E-05	0.000111				3.57E-05			rs780661201,COSM2152283	32/52	.		ENST00000276440	Transcript				cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	ENSG00000147459	g.chr8:25225732C>T	23476			LOW								--	--	1																																		DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Silent_p.I797I|DOCK5_uc003xei.2_Silent_p.I653I|DOCK5_uc003xej.2_RNA	0,1	1			p.I1083I	NM_024940	NP_079216			0,1	DOCK5_HUMAN	DOCK5	HGNC	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)			32	3386	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	UPI000022D4F3	1083					SNV	DOCK5,synonymous_variant,p.=,ENST00000276440,NM_024940.6;DOCK5,synonymous_variant,p.=,ENST00000444569,;DOCK5,3_prime_UTR_variant,,ENST00000467709,;DOCK5,downstream_gene_variant,,ENST00000481728,;	uc003xeg.2	c.3249C>T	3293/10075	1	1			c.3249C>T						8	SNP	c.(3247-3249)ATC>ATT	3	3			ovary(3)	3	Broad	dedicator of cytokinesis 5			25225732		0.413	ENSG00000147459	4608	g.chr8:25225732C>T		cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	Pancreas(145;34 1887 3271 10937 30165)			Pancreas(145;34 1887 3271 10937 30165)			36.491136	KEEP	8	6	-1	15	12	8	6	-1	37.253866	15	12	0.342857	1	0	0	0	0	0	0	1	0	--	--		0	T			DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Silent_p.I797I|DOCK5_uc003xei.2_Silent_p.I653I|DOCK5_uc003xej.2_RNA	207	GBM-28-1753-TP	p.I1083I	C	GAAAGGAAATCGGCTTTAGAA	NM_024940	NP_079216	25225732	Q9H7D0	DOCK5_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	32	3386	+	T	T		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	Silent	1083						
DOCK5	0	broad.mit.edu	GRCh37	8	25159899	25159899	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276440.7:c.905G>A	p.Arg302His	p.R302H	ENST00000276440	NM_024940.6	302	cGc/cAc	0			1			A	R/H	uc003xeg.2	protein_coding	YES	CCDS6047.1			905/5613									ovary(3)	3	c.(904-906)CGC>CAC			hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF68	dedicator of cytokinesis 5				ENSP00000276440		Oct-52									COSM3412938	Oct-52	.		ENST00000276440	Transcript				cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	ENSG00000147459	g.chr8:25159899G>A	23476			MODERATE		3.035	medium	getma.org/?cm=msa&ty=f&p=DOCK5_HUMAN&rb=262&re=437&var=R302H	NA	getma.org/?cm=var&var=hg19,8,25159899,G,A&fts=all	R302H	--	--	1																																		DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.R16H|DOCK5_uc003xef.2_Missense_Mutation_p.R302H	1	1		possibly_damaging(0.87)	p.R302H	NM_024940	NP_079216		deleterious(0)	1	DOCK5_HUMAN	DOCK5	HGNC	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)			10	1042	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	UPI000022D4F3	302					SNV	DOCK5,missense_variant,p.Arg302His,ENST00000276440,NM_024940.6;DOCK5,missense_variant,p.Arg74His,ENST00000444569,;DOCK5,missense_variant,p.Arg302His,ENST00000481100,;DOCK5,downstream_gene_variant,,ENST00000495236,;	uc003xeg.2	c.905G>A	949/10075	2	2			c.905G>A						8	SNP	c.(904-906)CGC>CAC	44	44			ovary(3)	3	Broad	dedicator of cytokinesis 5			25159899		0.562	ENSG00000147459	4608	g.chr8:25159899G>A		cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	Pancreas(145;34 1887 3271 10937 30165)			Pancreas(145;34 1887 3271 10937 30165)			24.500049	KEEP	4	4	-1	6	2	4	4	-1	24.514462	6	2	0.533333	1	0	0	0	0	1	0	0	0	--	--		0	A			DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.R16H|DOCK5_uc003xef.2_Missense_Mutation_p.R302H	240	GBM-32-2632-TP	p.R302H	G	CAGATTGTCCGCGTGGGCCAT	NM_024940	NP_079216	25159899	Q9H7D0	DOCK5_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	10	1042	+	A	A		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	Missense_Mutation	302						
DOCK5	0	broad.mit.edu	GRCh37	8	25189802	25189802	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-32-2632-01	TCGA-32-2632-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276440.7:c.1939T>A	p.Ser647Thr	p.S647T	ENST00000276440	NM_024940.6	647	Tcc/Acc	0			1			A	S/T	uc003xeg.2	protein_coding	YES	CCDS6047.1			1939/5613									ovary(3)	3	c.(1939-1941)TCC>ACC			hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF68	dedicator of cytokinesis 5				ENSP00000276440		19/52									COSM3412939	19/52	.		ENST00000276440	Transcript				cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	ENSG00000147459	g.chr8:25189802T>A	23476			MODERATE		0.225	neutral	getma.org/?cm=msa&ty=f&p=DOCK5_HUMAN&rb=440&re=682&var=S647T	NA	getma.org/?cm=var&var=hg19,8,25189802,T,A&fts=all	S647T	--	--	1																																		DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.S361T|DOCK5_uc003xei.2_Missense_Mutation_p.S217T|DOCK5_uc003xej.2_RNA	1	1		benign(0.001)	p.S647T	NM_024940	NP_079216		tolerated(0.37)	1	DOCK5_HUMAN	DOCK5	HGNC	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)			19	2076	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	UPI000022D4F3	647			DHR-1.		SNV	DOCK5,missense_variant,p.Ser647Thr,ENST00000276440,NM_024940.6;DOCK5,missense_variant,p.Ser419Thr,ENST00000444569,;DOCK5,missense_variant,p.Ser54Thr,ENST00000467709,;	uc003xeg.2	c.1939T>A	1983/10075	2	2			c.1939T>A						8	SNP	c.(1939-1941)TCC>ACC	29	29			ovary(3)	3	Broad	dedicator of cytokinesis 5			25189802		0.378	ENSG00000147459	4608	g.chr8:25189802T>A		cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	Pancreas(145;34 1887 3271 10937 30165)			Pancreas(145;34 1887 3271 10937 30165)			97.78236	KEEP	22	22	-1	48	38	22	22	-1	101.288648	48	38	0.3125	1	0	0	0	0	1	0	0	0	--	--		0	A			DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.S361T|DOCK5_uc003xei.2_Missense_Mutation_p.S217T|DOCK5_uc003xej.2_RNA	240	GBM-32-2632-TP	p.S647T	T	GCGTTCCAACTCCCAGAACAT	NM_024940	NP_079216	25189802	Q9H7D0	DOCK5_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	19	2076	+	A	A		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	Missense_Mutation	647			DHR-1.			
DOCK5	0	broad.mit.edu	GRCh37	8	25265580	25265580	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2632-01	TCGA-32-2632-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276440.7:c.5175C>T	p.Ser1725=	p.S1725=	ENST00000276440	NM_024940.6	1725	agC/agT	0			1			T	S	uc003xeg.2	protein_coding	YES	CCDS6047.1			5175/5613									ovary(3)	3	c.(5173-5175)AGC>AGT			Coiled-coils_(Ncoils):Coil	dedicator of cytokinesis 5				ENSP00000276440		49/52	4.12E-05			0.000358		2.22E-05		8.51E-05	rs768511425,COSM3412946	49/52	.		ENST00000276440	Transcript				cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	ENSG00000147459	g.chr8:25265580C>T	23476			LOW								--	--	1																																		PPP2R2A_uc003xek.2_Intron|DOCK5_uc003xej.2_RNA	0,1	1			p.S1725S	NM_024940	NP_079216			0,1	DOCK5_HUMAN	DOCK5	HGNC	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)			49	5312	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	UPI000022D4F3	1725					SNV	DOCK5,synonymous_variant,p.=,ENST00000276440,NM_024940.6;DOCK5,3_prime_UTR_variant,,ENST00000467709,;DOCK5,upstream_gene_variant,,ENST00000521405,;DOCK5,upstream_gene_variant,,ENST00000479547,;	uc003xeg.2	c.5175C>T	5219/10075	1	1			c.5175C>T						8	SNP	c.(5173-5175)AGC>AGT	11	11			ovary(3)	3	Broad	dedicator of cytokinesis 5			25265580		0.498	ENSG00000147459	4608	g.chr8:25265580C>T		cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	Pancreas(145;34 1887 3271 10937 30165)			Pancreas(145;34 1887 3271 10937 30165)			8.787867	KEEP	4	0	-1	9	8	4	0	-1	10.668507	9	8	0.190476	1	0	0	0	0	0	0	1	0	--	--		0	T			PPP2R2A_uc003xek.2_Intron|DOCK5_uc003xej.2_RNA	240	GBM-32-2632-TP	p.S1725S	C	AGGAGAACAGCGAGAACCGGA	NM_024940	NP_079216	25265580	Q9H7D0	DOCK5_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	49	5312	+	T	T		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	Silent	1725						
DOCK5	0	broad.mit.edu	GRCh37	8	25199986	25199986	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-41-3915-01	TCGA-41-3915-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276440.7:c.2580G>C	p.Met860Ile	p.M860I	ENST00000276440	NM_024940.6	860	atG/atC	0			1			C	M/I	uc003xeg.2	protein_coding	YES	CCDS6047.1			2580/5613									ovary(3)	3	c.(2578-2580)ATG>ATC			hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF68,Superfamily_domains:SSF48371	dedicator of cytokinesis 5				ENSP00000276440		25/52									COSM3412942	25/52	.		ENST00000276440	Transcript				cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	ENSG00000147459	g.chr8:25199986G>C	23476			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=DOCK5_HUMAN&rb=838&re=1037&var=M860I	NA	getma.org/?cm=var&var=hg19,8,25199986,G,C&fts=all	M860I	--	--	1																																		DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.M574I|DOCK5_uc003xei.2_Missense_Mutation_p.M430I|DOCK5_uc003xej.2_RNA	1	1		benign(0.04)	p.M860I	NM_024940	NP_079216		tolerated(0.21)	1	DOCK5_HUMAN	DOCK5	HGNC	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)			25	2717	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	UPI000022D4F3	860					SNV	DOCK5,missense_variant,p.Met860Ile,ENST00000276440,NM_024940.6;DOCK5,missense_variant,p.Met632Ile,ENST00000444569,;DOCK5,3_prime_UTR_variant,,ENST00000467709,;	uc003xeg.2	c.2580G>C	2624/10075	4	4			c.2580G>C						8	SNP	c.(2578-2580)ATG>ATC	47	47			ovary(3)	3	Broad	dedicator of cytokinesis 5			25199986		0.373	ENSG00000147459	4608	g.chr8:25199986G>C		cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	Pancreas(145;34 1887 3271 10937 30165)			Pancreas(145;34 1887 3271 10937 30165)			3.935899	KEEP	2	0	-1	6	11	2	0	-1	6.627438	6	11	0.111111	1	0	0	0	0	1	0	0	0	--	--		0	C			DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.M574I|DOCK5_uc003xei.2_Missense_Mutation_p.M430I|DOCK5_uc003xej.2_RNA	256	GBM-41-3915-TP	p.M860I	G	TTAACTGCATGACCAAGATAG	NM_024940	NP_079216	25199986	Q9H7D0	DOCK5_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	25	2717	+	C	C		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	Missense_Mutation	860						
DOCK5	0	broad.mit.edu	GRCh37	8	25250313	25250313	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276440.7:c.4442C>T	p.Thr1481Met	p.T1481M	ENST00000276440	NM_024940.6	1481	aCg/aTg	0			1			T	T/M	uc003xeg.2	protein_coding	YES	CCDS6047.1			4442/5613									ovary(3)	3	c.(4441-4443)ACG>ATG			Pfam_domain:PF06920,PROSITE_profiles:PS51651,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF68	dedicator of cytokinesis 5				ENSP00000276440		44/52	8.24E-06							7.72E-05	rs746351464,COSM3412945	44/52	.		ENST00000276440	Transcript				cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	ENSG00000147459	g.chr8:25250313C>T	23476			MODERATE		1.69	low	getma.org/?cm=msa&ty=f&p=DOCK5_HUMAN&rb=1451&re=1635&var=T1481M	getma.org/pdb.php?prot=DOCK5_HUMAN&from=1451&to=1635&var=T1481M	getma.org/?cm=var&var=hg19,8,25250313,C,T&fts=all	T1481M	--	--	1																																		PPP2R2A_uc003xek.2_Intron|DOCK5_uc003xei.2_Missense_Mutation_p.T1051M|DOCK5_uc003xej.2_RNA	0,1	1		possibly_damaging(0.837)	p.T1481M	NM_024940	NP_079216		deleterious(0.01)	0,1	DOCK5_HUMAN	DOCK5	HGNC	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)			44	4579	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	UPI000022D4F3	1481			DHR-2.		SNV	DOCK5,missense_variant,p.Thr1481Met,ENST00000276440,NM_024940.6;DOCK5,splice_region_variant,,ENST00000467709,;DOCK5,splice_region_variant,,ENST00000463457,;	uc003xeg.2	c.4442C>T	4486/10075	2	2			c.4442C>T						8	SNP	c.(4441-4443)ACG>ATG	35	35			ovary(3)	3	Broad	dedicator of cytokinesis 5			25250313		0.428	ENSG00000147459	4608	g.chr8:25250313C>T		cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	Pancreas(145;34 1887 3271 10937 30165)			Pancreas(145;34 1887 3271 10937 30165)			41.845532	KEEP	7	9	-1	12	8	7	9	-1	41.954438	12	8	0.4375	1	0	0	0	0	1	0	0	0	--	--		0	T			PPP2R2A_uc003xek.2_Intron|DOCK5_uc003xei.2_Missense_Mutation_p.T1051M|DOCK5_uc003xej.2_RNA	271	GBM-76-4932-TP	p.T1481M	C	TGCCACCAGACGATGTGGATT	NM_024940	NP_079216	25250313	Q9H7D0	DOCK5_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	44	4579	+	T	T		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	Missense_Mutation	1481			DHR-2.			
DOCK5	80005		GRCh37	8	25220568	25220568	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000276440.7:c.2955C>A	p.Phe985Leu	p.F985L	ENST00000276440	NM_024940.6	985	ttC/ttA	0																																																																																																																																																																																																																																												
DOCK6	0	broad.mit.edu	GRCh37	19	11353971	11353971	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01	TCGA-19-2620-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294618.7:c.1349G>A	p.Arg450His	p.R450H	ENST00000294618	NM_020812.3	450	cGt/cAt	0			1			T	R/H	uc002mqs.3	protein_coding	YES	CCDS45975.1			1349/6144									ovary(2)|skin(1)	3	c.(1348-1350)CGT>CAT			hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF65	dedicator of cytokinesis 6				ENSP00000294618		Dec-48									COSM3403752	Dec-48	.		ENST00000294618	Transcript	1		blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	ENSG00000130158	g.chr19:11353971C>T	19189			MODERATE		2.585	medium	getma.org/?cm=msa&ty=f&p=DOCK6_HUMAN&rb=356&re=542&var=R450H	NA	getma.org/?cm=var&var=hg19,19,11353971,C,T&fts=all	R450H	--	--	1																																OREG0025252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1	1		benign(0.158)	p.R450H	NM_020812	NP_065863		deleterious(0.02)	1	DOCK6_HUMAN	DOCK6	HGNC	Q96HP0	DOCK6_HUMAN					12	1390	-			UPI000059D66F	450					SNV	DOCK6,missense_variant,p.Arg450His,ENST00000294618,NM_020812.3;C19orf80,downstream_gene_variant,,ENST00000252453,NM_018687.6;C19orf80,downstream_gene_variant,,ENST00000591200,;C19orf80,downstream_gene_variant,,ENST00000587543,;DOCK6,downstream_gene_variant,,ENST00000585609,;DOCK6,upstream_gene_variant,,ENST00000591750,;	uc002mqs.3	c.1349G>A	1361/6358	2	2			c.1349G>A						19	SNP	c.(1348-1350)CGT>CAT	43	43			ovary(2)|skin(1)	3	Broad	dedicator of cytokinesis 6			11353971		0.677	ENSG00000130158	4609	g.chr19:11353971C>T	blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity							10.393929	KEEP	6	0	-1	5	4	6	0	-1	10.482371	5	4	0.4	1	0	0	0	0	1	0	0	0	--	--		0	T	OREG0025252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		162	GBM-19-2620-TP	p.R450H	C	CGTGGCTGGACGGAAGCCAGA	NM_020812	NP_065863	11353971	Q96HP0	DOCK6_HUMAN	0			12	1390	-	T	T			Missense_Mutation	450						
DOCK6	0	broad.mit.edu	GRCh37	19	11361720	11361720	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294618.7:c.550C>T	p.Arg184Ter	p.R184*	ENST00000294618	NM_020812.3	184	Cga/Tga	0			1			A	R/*	uc002mqs.3	protein_coding	YES	CCDS45975.1			550/6144									ovary(2)|skin(1)	3	c.(550-552)CGA>TGA			hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF65	dedicator of cytokinesis 6				ENSP00000294618		Jun-48	1.65E-05					1.70E-05		6.76E-05	rs765129469,COSM3403753	Jun-48	.		ENST00000294618	Transcript	1		blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	ENSG00000130158	g.chr19:11361720G>A	19189			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,19,11361720,G,A&fts=all	R184*	--	--	1																																			0,1	1			p.R184*	NM_020812	NP_065863			0,1	DOCK6_HUMAN	DOCK6	HGNC	Q96HP0	DOCK6_HUMAN					6	591	-			UPI000059D66F	184					SNV	DOCK6,stop_gained,p.Arg184Ter,ENST00000294618,NM_020812.3;DOCK6,non_coding_transcript_exon_variant,,ENST00000585609,;DOCK6,downstream_gene_variant,,ENST00000587572,;DOCK6,downstream_gene_variant,,ENST00000586482,;	uc002mqs.3	c.550C>T	562/6358	5	2			c.550C>T						19	SNP	c.(550-552)CGA>TGA	22	22			ovary(2)|skin(1)	3	Broad	dedicator of cytokinesis 6			11361720		0.567	ENSG00000130158	4609	g.chr19:11361720G>A	blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity							9.390517	KEEP	3	2	-1	8	11	3	2	-1	10.668193	8	11	0.222222	1	0	0	0	0	0	1	0	0	--	--		0	A				177	GBM-19-5959-TP	p.R184*	G	CCACTGCTTCGAGGGGTGTCT	NM_020812	NP_065863	11361720	Q96HP0	DOCK6_HUMAN	0			6	591	-	A	A			Nonsense_Mutation	184						
DOCK7	85440	broad.mit.edu	GRCh37	1	62993826	62993826	+	stop_gained	Nonsense_Mutation	SNP	G	G	C			TCGA-06-0152-01	TCGA-06-0152-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340370.5:c.3839C>G	p.Ser1280Ter	p.S1280*	ENST00000340370	NM_033407.3	1280	tCa/tGa	0			1			C	S/*	uc001daq.2	protein_coding	YES	CCDS30734.1			3839/6330									ovary(2)	2	c.(3931-3933)TCA>TGA			hmmpanther:PTHR23317:SF78,hmmpanther:PTHR23317	dedicator of cytokinesis 7				ENSP00000340742		30/49									COSM3400942,COSM3400943	30/49	.		ENST00000340370	Transcript	1		activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	ENSG00000116641	g.chr1:62993826G>C	19190			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,62993826,G,C&fts=all	S1311*	--	--	1																																		DOCK7_uc001dan.2_Nonsense_Mutation_p.S1172*|DOCK7_uc001dao.2_Nonsense_Mutation_p.S1172*|DOCK7_uc001dap.2_Nonsense_Mutation_p.S1280*|DOCK7_uc001dam.2_Nonsense_Mutation_p.S491*|DOCK7_uc010oov.1_Intron	1,1	1			p.S1311*	NM_033407	NP_212132			1,1	DOCK7_HUMAN	DOCK7	HGNC	Q96N67	DOCK7_HUMAN					31	3966	-			UPI000044FEA9	1311					SNV	DOCK7,stop_gained,p.Ser1311Ter,ENST00000251157,NM_001272001.1,NM_001271999.1;DOCK7,stop_gained,p.Ser1280Ter,ENST00000340370,NM_033407.3,NM_001272000.1;DOCK7,stop_gained,p.Ser483Ter,ENST00000454575,;RP11-293K19.1,upstream_gene_variant,,ENST00000604867,;	uc001daq.2	c.3932C>G	3857/6864	5	4			c.3932C>G						1	SNP	c.(3931-3933)TCA>TGA	36	36			ovary(2)	2	Broad	dedicator of cytokinesis 7			62993826		0.423	ENSG00000116641	4610	g.chr1:62993826G>C	activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding							34.475007	KEEP	7	18	-1	99	85	7	18	-1	59.642949	99	85	0.115607	1	0	0	0	0	0	1	0	0	--	--		0	C			DOCK7_uc001dan.2_Nonsense_Mutation_p.S1172*|DOCK7_uc001dao.2_Nonsense_Mutation_p.S1172*|DOCK7_uc001dap.2_Nonsense_Mutation_p.S1280*|DOCK7_uc001dam.2_Nonsense_Mutation_p.S491*|DOCK7_uc010oov.1_Intron	25	GBM-06-0152-TP	p.S1311*	G	TTTTACCGTTGACGTGAGGAG	NM_033407	NP_212132	62993826	Q96N67	DOCK7_HUMAN	0			31	3966	-	C	C			Nonsense_Mutation	1311						
DOCK8	81704	broad.mit.edu	GRCh37	9	286571	286571	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-02-2485-01	TCGA-02-2485-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000453981.1:c.267C>T	p.Asp89=	p.D89=	ENST00000453981		89	gaC/gaT	0			1			T	D	uc003zgf.2	protein_coding		CCDS55283.1			63/6096									ovary(3)|central_nervous_system(3)	6	c.(265-267)GAC>GAT			Low_complexity_(Seg):seg,hmmpanther:PTHR23317:SF74,hmmpanther:PTHR23317,Pfam_domain:PF11878	dedicator of cytokinesis 8				ENSP00000394888		Mar-48	1.65E-05		0.000174						rs770313916,COSM3413585,COSM3413584	Mar-48	.		ENST00000432829	Transcript	1		blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	ENSG00000107099	g.chr9:286571C>T	19191			LOW								--	--	1																																		DOCK8_uc011lls.1_Silent_p.D89D|DOCK8_uc010mgu.2_Translation_Start_Site|DOCK8_uc010mgv.2_Silent_p.D21D|DOCK8_uc010mgt.2_Silent_p.D21D|DOCK8_uc003zgg.2_Silent_p.D21D|DOCK8_uc003zgh.2_RNA	0,1,1				p.D89D	NM_203447	NP_982272			0,1,1	DOCK8_HUMAN	DOCK8	HGNC	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	E2J6M5_HUMAN,C9J7A3_HUMAN,C9J613_HUMAN		3	379	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	UPI000034ECCE	89					SNV	DOCK8,synonymous_variant,p.=,ENST00000432829,NM_203447.3;DOCK8,synonymous_variant,p.=,ENST00000453981,;DOCK8,synonymous_variant,p.=,ENST00000469391,NM_001190458.1,NM_001193536.1;DOCK8,synonymous_variant,p.=,ENST00000479404,;DOCK8,synonymous_variant,p.=,ENST00000487230,;DOCK8,synonymous_variant,p.=,ENST00000483757,;DOCK8,3_prime_UTR_variant,,ENST00000524396,;DOCK8,3_prime_UTR_variant,,ENST00000469197,;DOCK8,non_coding_transcript_exon_variant,,ENST00000495184,;DOCK8,non_coding_transcript_exon_variant,,ENST00000454469,;DOCK8,non_coding_transcript_exon_variant,,ENST00000382341,;DOCK8,non_coding_transcript_exon_variant,,ENST00000478380,;	uc003zgf.2	c.267C>T	379/7452	2	2			c.267C>T						9	SNP	c.(265-267)GAC>GAT	30	30			ovary(3)|central_nervous_system(3)	6	Broad	dedicator of cytokinesis 8			286571		0.507	ENSG00000107099	4611	g.chr9:286571C>T	blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity							153.94409	KEEP	23	33	-1	23	37	23	33	-1	154.043332	23	37	0.46729	1	0	0	0	0	0	0	1	0	--	--		0	T			DOCK8_uc011lls.1_Silent_p.D89D|DOCK8_uc010mgu.2_Translation_Start_Site|DOCK8_uc010mgv.2_Silent_p.D21D|DOCK8_uc010mgt.2_Silent_p.D21D|DOCK8_uc003zgg.2_Silent_p.D21D|DOCK8_uc003zgh.2_RNA	7	GBM-02-2485-TP	p.D89D	C	TCACTGATGACGACTTGGACG	NM_203447	NP_982272	286571	Q8NF50	DOCK8_HUMAN	0		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	3	379	+	T	T		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	Silent	89						
DOCK8	81704	broad.mit.edu	GRCh37	9	286581	286581	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000453981.1:c.277G>A	p.Val93Met	p.V93M	ENST00000453981		93	Gtg/Atg	0	T:0		1			A	V/M	uc003zgf.2	protein_coding		CCDS55283.1			73/6096								p.V25M(1)	ovary(3)|central_nervous_system(3)	6	c.(277-279)GTG>ATG			Low_complexity_(Seg):seg,hmmpanther:PTHR23317:SF74,hmmpanther:PTHR23317,Pfam_domain:PF11878	dedicator of cytokinesis 8			T:0.0001	ENSP00000394888		Mar-48	1.65E-05			0.000116		1.50E-05			rs375686155,COSM43025,COSM2149780	Mar-48	.		ENST00000432829	Transcript	1		blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	ENSG00000107099	g.chr9:286581G>A	19191			MODERATE		2.095	medium	getma.org/?cm=msa&ty=f&p=DOCK8_HUMAN&rb=69&re=164&var=V93M	NA	getma.org/?cm=var&var=hg19,9,286581,G,A&fts=all	V93M	--	--	1																																		DOCK8_uc011lls.1_Missense_Mutation_p.V93M|DOCK8_uc010mgu.2_Translation_Start_Site|DOCK8_uc010mgv.2_Missense_Mutation_p.V25M|DOCK8_uc010mgt.2_Missense_Mutation_p.V25M|DOCK8_uc003zgg.2_Missense_Mutation_p.V25M|DOCK8_uc003zgh.2_RNA	0,1,1			probably_damaging(0.964)	p.V93M	NM_203447	NP_982272		deleterious(0.02)	0,1,1	DOCK8_HUMAN	DOCK8	HGNC	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	E2J6M5_HUMAN,C9J7A3_HUMAN,C9J613_HUMAN		3	389	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	UPI000034ECCE	93					SNV	DOCK8,missense_variant,p.Val25Met,ENST00000432829,NM_203447.3;DOCK8,missense_variant,p.Val93Met,ENST00000453981,;DOCK8,missense_variant,p.Val25Met,ENST00000469391,NM_001190458.1,NM_001193536.1;DOCK8,missense_variant,p.Val25Met,ENST00000479404,;DOCK8,missense_variant,p.Val25Met,ENST00000487230,;DOCK8,missense_variant,p.Val25Met,ENST00000483757,;DOCK8,3_prime_UTR_variant,,ENST00000524396,;DOCK8,3_prime_UTR_variant,,ENST00000469197,;DOCK8,non_coding_transcript_exon_variant,,ENST00000495184,;DOCK8,non_coding_transcript_exon_variant,,ENST00000454469,;DOCK8,non_coding_transcript_exon_variant,,ENST00000382341,;DOCK8,non_coding_transcript_exon_variant,,ENST00000478380,;	uc003zgf.2	c.277G>A	389/7452	2	2			c.277G>A						9	SNP	c.(277-279)GTG>ATG	20	20		p.V25M(1)	ovary(3)|central_nervous_system(3)	6	Broad	dedicator of cytokinesis 8			286581		0.498	ENSG00000107099	4611	g.chr9:286581G>A	blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity							127.238247	KEEP	20	23	-1	15	11	20	23	-1	128.021381	15	11	0.619048	1	0	0	0	0	1	0	0	0	--	--		0	A			DOCK8_uc011lls.1_Missense_Mutation_p.V93M|DOCK8_uc010mgu.2_Translation_Start_Site|DOCK8_uc010mgv.2_Missense_Mutation_p.V25M|DOCK8_uc010mgt.2_Missense_Mutation_p.V25M|DOCK8_uc003zgg.2_Missense_Mutation_p.V25M|DOCK8_uc003zgh.2_RNA	23	GBM-06-0145-TP	p.V93M	G	CGACTTGGACGTGGTGTTCAC	NM_203447	NP_982272	286581	Q8NF50	DOCK8_HUMAN	0		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	3	389	+	A	A		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	Missense_Mutation	93						
DOCK8	81704	broad.mit.edu	GRCh37	9	396909	396909	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0876-01	TCGA-06-0876-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000453981.1:c.3095C>G	p.Ala1032Gly	p.A1032G	ENST00000453981		1032	gCa/gGa	0			1			G	A/G	uc003zgf.2	protein_coding		CCDS55283.1			2891/6096									ovary(3)|central_nervous_system(3)	6	c.(3094-3096)GCA>GGA			hmmpanther:PTHR23317:SF74,hmmpanther:PTHR23317	dedicator of cytokinesis 8				ENSP00000394888		25/48									COSM2152066,COSM2152065	25/48	.		ENST00000432829	Transcript	1		blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	ENSG00000107099	g.chr9:396909C>G	19191			MODERATE		0.29	neutral	getma.org/?cm=msa&ty=f&p=DOCK8_HUMAN&rb=940&re=1139&var=A1032G	NA	getma.org/?cm=var&var=hg19,9,396909,C,G&fts=all	A1032G	--	--	1																																		DOCK8_uc010mgu.2_Missense_Mutation_p.A334G|DOCK8_uc010mgv.2_Missense_Mutation_p.A932G|DOCK8_uc010mgw.1_Missense_Mutation_p.A334G|DOCK8_uc003zgk.2_Missense_Mutation_p.A490G	1,1			benign(0)	p.A1032G	NM_203447	NP_982272		tolerated(0.33)	1,1	DOCK8_HUMAN	DOCK8	HGNC	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	E2J6M5_HUMAN,C9J7A3_HUMAN,C9J613_HUMAN		25	3207	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	UPI000034ECCE	1032					SNV	DOCK8,missense_variant,p.Ala964Gly,ENST00000432829,NM_203447.3;DOCK8,missense_variant,p.Ala1032Gly,ENST00000453981,;DOCK8,missense_variant,p.Ala932Gly,ENST00000469391,NM_001190458.1,NM_001193536.1;DOCK8,missense_variant,p.Ala499Gly,ENST00000382329,;DOCK8,missense_variant,p.Ala334Gly,ENST00000382331,;DOCK8,non_coding_transcript_exon_variant,,ENST00000495184,;	uc003zgf.2	c.3095C>G	3207/7452	3	3			c.3095C>G						9	SNP	c.(3094-3096)GCA>GGA	51	51			ovary(3)|central_nervous_system(3)	6	Broad	dedicator of cytokinesis 8			396909		0.274	ENSG00000107099	4611	g.chr9:396909C>G	blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity							100.545971	KEEP	16	18	-1	46	47	16	18	-1	106.446385	46	47	0.266667	1	0	0	0	0	1	0	0	0	--	--		0	G			DOCK8_uc010mgu.2_Missense_Mutation_p.A334G|DOCK8_uc010mgv.2_Missense_Mutation_p.A932G|DOCK8_uc010mgw.1_Missense_Mutation_p.A334G|DOCK8_uc003zgk.2_Missense_Mutation_p.A490G	72	GBM-06-0876-TP	p.A1032G	C	TCGGAAATTGCAGCCCTTTTA	NM_203447	NP_982272	396909	Q8NF50	DOCK8_HUMAN	0		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	25	3207	+	G	G		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	Missense_Mutation	1032						
DOCK8	81704	broad.mit.edu	GRCh37	9	399200	399200	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0876-01	TCGA-06-0876-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000453981.1:c.3175C>G	p.Leu1059Val	p.L1059V	ENST00000453981		1059	Ctt/Gtt	0			1			G	L/V	uc003zgf.2	protein_coding		CCDS55283.1			2971/6096									ovary(3)|central_nervous_system(3)	6	c.(3175-3177)CTT>GTT			hmmpanther:PTHR23317:SF74,hmmpanther:PTHR23317	dedicator of cytokinesis 8				ENSP00000394888		26/48									COSM2152092,COSM2152091	26/48	.		ENST00000432829	Transcript	1		blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	ENSG00000107099	g.chr9:399200C>G	19191			MODERATE		2.5	medium	getma.org/?cm=msa&ty=f&p=DOCK8_HUMAN&rb=940&re=1139&var=L1059V	NA	getma.org/?cm=var&var=hg19,9,399200,C,G&fts=all	L1059V	--	--	1																																		DOCK8_uc010mgu.2_Missense_Mutation_p.L361V|DOCK8_uc010mgv.2_Missense_Mutation_p.L959V|DOCK8_uc010mgw.1_Missense_Mutation_p.L361V|DOCK8_uc003zgk.2_Missense_Mutation_p.L517V	1,1			probably_damaging(0.967)	p.L1059V	NM_203447	NP_982272		deleterious(0.01)	1,1	DOCK8_HUMAN	DOCK8	HGNC	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	E2J6M5_HUMAN,C9J7A3_HUMAN,C9J613_HUMAN		26	3287	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	UPI000034ECCE	1059					SNV	DOCK8,missense_variant,p.Leu991Val,ENST00000432829,NM_203447.3;DOCK8,missense_variant,p.Leu1059Val,ENST00000453981,;DOCK8,missense_variant,p.Leu959Val,ENST00000469391,NM_001190458.1,NM_001193536.1;DOCK8,missense_variant,p.Leu526Val,ENST00000382329,;DOCK8,missense_variant,p.Leu361Val,ENST00000382331,;DOCK8,non_coding_transcript_exon_variant,,ENST00000495184,;	uc003zgf.2	c.3175C>G	3287/7452	3	3			c.3175C>G						9	SNP	c.(3175-3177)CTT>GTT	55	55			ovary(3)|central_nervous_system(3)	6	Broad	dedicator of cytokinesis 8			399200		0.493	ENSG00000107099	4611	g.chr9:399200C>G	blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity							107.2167	KEEP	27	23	-1	59	46	27	23	-1	111.439772	59	46	0.310606	1	0	0	0	0	1	0	0	0	--	--		0	G			DOCK8_uc010mgu.2_Missense_Mutation_p.L361V|DOCK8_uc010mgv.2_Missense_Mutation_p.L959V|DOCK8_uc010mgw.1_Missense_Mutation_p.L361V|DOCK8_uc003zgk.2_Missense_Mutation_p.L517V	72	GBM-06-0876-TP	p.L1059V	C	CTTGTATGACCTTCTCTCCCT	NM_203447	NP_982272	399200	Q8NF50	DOCK8_HUMAN	0		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	26	3287	+	G	G		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	Missense_Mutation	1059						
DOCK8	81704	broad.mit.edu	GRCh37	9	439373	439373	+	synonymous_variant	Silent	SNP	G	G	A	rs144172375		TCGA-06-0876-01	TCGA-06-0876-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000453981.1:c.5208G>A	p.Ala1736=	p.A1736=	ENST00000453981		1736	gcG/gcA	0	A:0		1			A	A	uc003zgf.2	protein_coding		CCDS55283.1			5004/6096									ovary(3)|central_nervous_system(3)	6	c.(5206-5208)GCG>GCA			PROSITE_profiles:PS51651,hmmpanther:PTHR23317:SF74,hmmpanther:PTHR23317	dedicator of cytokinesis 8			A:0.0001	ENSP00000394888		40/48	0.000148			0.000116	0.00153	0.000105			rs144172375,COSM2152055,COSM2152054	40/48	common_variant		ENST00000432829	Transcript	1		blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	ENSG00000107099	g.chr9:439373G>A	19191			LOW								--	--	1																																		DOCK8_uc010mgu.2_Silent_p.A1038A|DOCK8_uc010mgv.2_Silent_p.A1636A|DOCK8_uc003zgk.2_Silent_p.A1194A	0,1,1				p.A1736A	NM_203447	NP_982272			0,1,1	DOCK8_HUMAN	DOCK8	HGNC	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	E2J6M5_HUMAN,C9J7A3_HUMAN,C9J613_HUMAN		40	5320	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	UPI000034ECCE	1736			DHR-2.		SNV	DOCK8,synonymous_variant,p.=,ENST00000432829,NM_203447.3;DOCK8,synonymous_variant,p.=,ENST00000453981,;DOCK8,synonymous_variant,p.=,ENST00000469391,NM_001190458.1,NM_001193536.1;DOCK8,synonymous_variant,p.=,ENST00000382329,;DOCK8,non_coding_transcript_exon_variant,,ENST00000495184,;	uc003zgf.2	c.5208G>A	5320/7452	2	2			c.5208G>A						9	SNP	c.(5206-5208)GCG>GCA	36	36			ovary(3)|central_nervous_system(3)	6	Broad	dedicator of cytokinesis 8			439373		0.647	ENSG00000107099	4611	g.chr9:439373G>A	blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity							112.878141	KEEP	27	14	-1	69	33	27	14	-1	117.815583	69	33	0.295455	1	0	0	0	0	0	0	1	0	--	--		0	A			DOCK8_uc010mgu.2_Silent_p.A1038A|DOCK8_uc010mgv.2_Silent_p.A1636A|DOCK8_uc003zgk.2_Silent_p.A1194A	72	GBM-06-0876-TP	p.A1736A	G	AGCAGGCCGCGGAGCTCTTCA	NM_203447	NP_982272	439373	Q8NF50	DOCK8_HUMAN	0		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	40	5320	+	A	A		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	Silent	1736			DHR-2.			
DOCK8	0	broad.mit.edu	GRCh37	9	439344	439344	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0740-01	TCGA-14-0740-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000432829.2:c.4975G>A	p.Gly1659Ser	p.G1659S	ENST00000432829	NM_203447.3	1659	Ggc/Agc	0			1			A	G/S	uc003zgf.2	protein_coding		CCDS55283.1			4975/6096									ovary(3)|central_nervous_system(3)	6	c.(5179-5181)GGC>AGC			PROSITE_profiles:PS51651,hmmpanther:PTHR23317:SF74,hmmpanther:PTHR23317	dedicator of cytokinesis 8				ENSP00000394888		40/48	8.24E-06			0.000116					rs771636750,COSM3413674,COSM3413673	40/48	.		ENST00000432829	Transcript	1		blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	ENSG00000107099	g.chr9:439344G>A	19191			MODERATE		3.045	medium	getma.org/?cm=msa&ty=f&p=DOCK8_HUMAN&rb=1302&re=1823&var=G1727S	getma.org/pdb.php?prot=DOCK8_HUMAN&from=1302&to=1823&var=G1727S	getma.org/?cm=var&var=hg19,9,439344,G,A&fts=all	G1727S	--	--	1																																		DOCK8_uc010mgu.2_Missense_Mutation_p.G1029S|DOCK8_uc010mgv.2_Missense_Mutation_p.G1627S|DOCK8_uc003zgk.2_Missense_Mutation_p.G1185S	0,1,1			probably_damaging(1)	p.G1727S	NM_203447	NP_982272		deleterious(0.02)	0,1,1	DOCK8_HUMAN	DOCK8	HGNC	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	E2J6M5_HUMAN,C9J7A3_HUMAN,C9J613_HUMAN		40	5291	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	UPI000034ECCE	1727			DHR-2.		SNV	DOCK8,missense_variant,p.Gly1659Ser,ENST00000432829,NM_203447.3;DOCK8,missense_variant,p.Gly1727Ser,ENST00000453981,;DOCK8,missense_variant,p.Gly1627Ser,ENST00000469391,NM_001190458.1,NM_001193536.1;DOCK8,missense_variant,p.Gly1194Ser,ENST00000382329,;DOCK8,non_coding_transcript_exon_variant,,ENST00000495184,;	uc003zgf.2	c.5179G>A	5291/7452	2	2			c.5179G>A						9	SNP	c.(5179-5181)GGC>AGC	30	30			ovary(3)|central_nervous_system(3)	6	Broad	dedicator of cytokinesis 8			439344		0.622	ENSG00000107099	4611	g.chr9:439344G>A	blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity							142.786802	KEEP	23	25	-1	3	4	23	25	-1	148.836241	3	4	0.857143	1	0	0	0	0	1	0	0	0	--	--		0	A			DOCK8_uc010mgu.2_Missense_Mutation_p.G1029S|DOCK8_uc010mgv.2_Missense_Mutation_p.G1627S|DOCK8_uc003zgk.2_Missense_Mutation_p.G1185S	132	GBM-14-0740-TP	p.G1727S	G	CACCGAGAGTGGCCTGGTAGG	NM_203447	NP_982272	439344	Q8NF50	DOCK8_HUMAN	0		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	40	5291	+	A	A		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	Missense_Mutation	1727			DHR-2.			
DOCK8	0	broad.mit.edu	GRCh37	9	441311	441311	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-4213-01	TCGA-32-4213-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000432829.2:c.5045A>G	p.Glu1682Gly	p.E1682G	ENST00000432829	NM_203447.3	1682	gAg/gGg	0			1			G	E/G	uc003zgf.2	protein_coding		CCDS55283.1			5045/6096									ovary(3)|central_nervous_system(3)	6	c.(5248-5250)GAG>GGG			PROSITE_profiles:PS51651,hmmpanther:PTHR23317:SF74,hmmpanther:PTHR23317	dedicator of cytokinesis 8				ENSP00000394888		41/48									COSM3413676,COSM3413675	41/48	.		ENST00000432829	Transcript	1		blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	ENSG00000107099	g.chr9:441311A>G	19191			MODERATE		2.61	medium	getma.org/?cm=msa&ty=f&p=DOCK8_HUMAN&rb=1302&re=1823&var=E1750G	getma.org/pdb.php?prot=DOCK8_HUMAN&from=1302&to=1823&var=E1750G	getma.org/?cm=var&var=hg19,9,441311,A,G&fts=all	E1750G	--	--	1																																		DOCK8_uc010mgu.2_Missense_Mutation_p.E1052G|DOCK8_uc010mgv.2_Missense_Mutation_p.E1650G|DOCK8_uc003zgk.2_Missense_Mutation_p.E1208G	1,1			probably_damaging(0.999)	p.E1750G	NM_203447	NP_982272		deleterious(0)	1,1	DOCK8_HUMAN	DOCK8	HGNC	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	E2J6M5_HUMAN,C9J7A3_HUMAN,C9J613_HUMAN		41	5361	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	UPI000034ECCE	1750			DHR-2.		SNV	DOCK8,missense_variant,p.Glu1682Gly,ENST00000432829,NM_203447.3;DOCK8,missense_variant,p.Glu1750Gly,ENST00000453981,;DOCK8,missense_variant,p.Glu1650Gly,ENST00000469391,NM_001190458.1,NM_001193536.1;DOCK8,missense_variant,p.Glu1217Gly,ENST00000382329,;DOCK8,non_coding_transcript_exon_variant,,ENST00000495184,;	uc003zgf.2	c.5249A>G	5361/7452	3	3			c.5249A>G						9	SNP	c.(5248-5250)GAG>GGG	5	5			ovary(3)|central_nervous_system(3)	6	Broad	dedicator of cytokinesis 8			441311		0.473	ENSG00000107099	4611	g.chr9:441311A>G	blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity							-16.153107	KEEP	1	3	-1	53	55	1	3	-1	7.794519	53	55	0.030303	1	0	0	0	0	1	0	0	0	--	--		0	G			DOCK8_uc010mgu.2_Missense_Mutation_p.E1052G|DOCK8_uc010mgv.2_Missense_Mutation_p.E1650G|DOCK8_uc003zgk.2_Missense_Mutation_p.E1208G	247	GBM-32-4213-TP	p.E1750G	A	ACAGTTAATGAGGTCTACAAG	NM_203447	NP_982272	441311	Q8NF50	DOCK8_HUMAN	0		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	41	5361	+	G	G		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	Missense_Mutation	1750			DHR-2.			
DOCK8	0	broad.mit.edu	GRCh37	9	426982	426982	+	splice_donor_variant	Splice_Site	SNP	G	G	T			TCGA-32-4719-01	TCGA-32-4719-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000432829.2:c.4134+1G>T		p.X1378_splice	ENST00000432829	NM_203447.3			0			1			T		uc003zgf.2	protein_coding		CCDS55283.1			4134/6096									ovary(3)|central_nervous_system(3)	6	c.e34+1				dedicator of cytokinesis 8				ENSP00000394888											COSM3413669,COSM3413668		.		ENST00000432829	Transcript	1		blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	ENSG00000107099	g.chr9:426982G>T	19191			HIGH	34/47							--	--	1																																		DOCK8_uc010mgu.2_Splice_Site_p.Q748_splice|DOCK8_uc010mgv.2_Splice_Site_p.Q1346_splice|DOCK8_uc003zgk.2_Splice_Site_p.Q904_splice	1,1				p.Q1446_splice	NM_203447	NP_982272			1,1	DOCK8_HUMAN	DOCK8	HGNC	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	E2J6M5_HUMAN,C9J7A3_HUMAN,C9J613_HUMAN		34	4450	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	UPI000034ECCE						SNV	DOCK8,splice_donor_variant,,ENST00000432829,NM_203447.3;DOCK8,splice_donor_variant,,ENST00000453981,;DOCK8,splice_donor_variant,,ENST00000469391,NM_001190458.1,NM_001193536.1;DOCK8,splice_donor_variant,,ENST00000382329,;DOCK8,downstream_gene_variant,,ENST00000493666,;DOCK8,splice_donor_variant,,ENST00000495184,;	uc003zgf.2	c.4338_splice	-/7452	5	2			c.4338_splice						9	SNP	c.e34+1	45	45			ovary(3)|central_nervous_system(3)	6	Broad	dedicator of cytokinesis 8			426982		0.383	ENSG00000107099	4611	g.chr9:426982G>T	blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity							78.830694	KEEP	11	16	0.407407407	8	8	11	16	0.407407407	79.104682	8	8	0.589744	1	0	0	0	0	0	0	0	1	--	--		0	T			DOCK8_uc010mgu.2_Splice_Site_p.Q748_splice|DOCK8_uc010mgv.2_Splice_Site_p.Q1346_splice|DOCK8_uc003zgk.2_Splice_Site_p.Q904_splice	248	GBM-32-4719-TP	p.Q1446_splice	G	CATTATCCAGGTGAGGAAAAC	NM_203447	NP_982272	426982	Q8NF50	DOCK8_HUMAN	0		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	34	4450	+	T	T		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	Splice_Site							
DOCK8	81704		GRCh37	9	404947	404947	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000453981.1:c.3264G>A	p.Thr1088=	p.T1088=	ENST00000453981		1088	acG/acA	0																																																																																																																																																																																																																																												
DOCK9	0	broad.mit.edu	GRCh37	13	99549805	99549805	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-12-0821-01	TCGA-12-0821-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376460.1:c.1646A>T	p.Tyr549Phe	p.Y549F	ENST00000376460	NM_015296.2	549	tAc/tTc	0			1			A	Y/F	uc001vnt.2	protein_coding	YES	CCDS45062.1			1646/6207									central_nervous_system(1)	1	c.(1648-1650)TAC>TTC			hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF77	dedicator of cytokinesis 9 isoform a				ENSP00000365643		15/57									COSM3399485,COSM3399486,COSM3399484,COSM3399487	15/57	.		ENST00000376460	Transcript			blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	ENSG00000088387	g.chr13:99549805T>A	14132			MODERATE		0.86	low	getma.org/?cm=msa&ty=f&p=DOCK9_HUMAN&rb=482&re=634&var=Y550F	NA	getma.org/?cm=var&var=hg19,13,99549805,T,A&fts=all	Y550F	--	--	1																																		DOCK9_uc001vnw.2_Missense_Mutation_p.Y549F|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.Y550F|DOCK9_uc010tis.1_Missense_Mutation_p.Y549F|DOCK9_uc010tit.1_Missense_Mutation_p.Y550F|DOCK9_uc010afu.1_Missense_Mutation_p.Y365F	1,1,1,1	1		benign(0.015)	p.Y550F	NM_015296	NP_056111		tolerated(0.28)	1,1,1,1	DOCK9_HUMAN	DOCK9	HGNC	Q9BZ29	DOCK9_HUMAN					15	1704	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		UPI000046FD7F	550					SNV	DOCK9,missense_variant,p.Tyr549Phe,ENST00000376460,NM_015296.2,NM_001130048.1;DOCK9,missense_variant,p.Tyr550Phe,ENST00000339416,;DOCK9,missense_variant,p.Tyr561Phe,ENST00000448493,;DOCK9,missense_variant,p.Tyr549Phe,ENST00000442173,NM_001130049.1,NM_001130050.1;	uc001vnt.2	c.1649A>T	1727/7549	2	2			c.1649A>T						13	SNP	c.(1648-1650)TAC>TTC	24	24			central_nervous_system(1)	1	Broad	dedicator of cytokinesis 9 isoform a			99549805		0.383	ENSG00000088387	4612	g.chr13:99549805T>A	blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity							-109.017167	KEEP	6	0	-1	283	177	6	0	-1	7.296593	283	177	0.013889	1	0	0	0	0	1	0	0	0	--	--		0	A			DOCK9_uc001vnw.2_Missense_Mutation_p.Y549F|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.Y550F|DOCK9_uc010tis.1_Missense_Mutation_p.Y549F|DOCK9_uc010tit.1_Missense_Mutation_p.Y550F|DOCK9_uc010afu.1_Missense_Mutation_p.Y365F	123	GBM-12-0821-TP	p.Y550F	T	GTCTTGCCTGTAGATGGCAGA	NM_015296	NP_056111	99549805	Q9BZ29	DOCK9_HUMAN	0			15	1704	-	A	A	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		Missense_Mutation	550						
DOK2	0	broad.mit.edu	GRCh37	8	21771096	21771096	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-12-0821-01	TCGA-12-0821-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276420.4:c.17T>G	p.Val6Gly	p.V6G	ENST00000276420	NM_003974.2	6	gTg/gGg	0			1			C	V/G	uc003wzy.1	protein_coding	YES	CCDS6016.1			17/1239										0	c.(16-18)GTG>GGG			PROSITE_profiles:PS50003,hmmpanther:PTHR21258,hmmpanther:PTHR21258:SF14,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	docking protein 2				ENSP00000276420		5-Jan									COSM3748386	5-Jan	.		ENST00000276420	Transcript			blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	ENSG00000147443	g.chr8:21771096A>C	2991			MODERATE		2.085	medium	getma.org/?cm=msa&ty=f&p=DOK2_HUMAN&rb=4&re=114&var=V6G	getma.org/pdb.php?prot=DOK2_HUMAN&from=4&to=114&var=V6G	getma.org/?cm=var&var=hg19,8,21771096,A,C&fts=all	V6G	--	--	1																																		DOK2_uc003wzx.1_Missense_Mutation_p.V6G|DOK2_uc003wzz.1_5'UTR|DOK2_uc010lth.1_5'UTR	1	1		possibly_damaging(0.784)	p.V6G	NM_003974	NP_003965		deleterious(0)	1	DOK2_HUMAN	DOK2	HGNC	O60496	DOK2_HUMAN		Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	G3V1Q1_HUMAN,E5RIG9_HUMAN		1	110	-			UPI000006F1DB	6			PH.		SNV	DOK2,missense_variant,p.Val6Gly,ENST00000276420,NM_003974.2;DOK2,missense_variant,p.Val6Gly,ENST00000523932,;DOK2,5_prime_UTR_variant,,ENST00000544659,;DOK2,5_prime_UTR_variant,,ENST00000518197,;DOK2,missense_variant,p.Val6Gly,ENST00000517422,;DOK2,upstream_gene_variant,,ENST00000524001,;DOK2,upstream_gene_variant,,ENST00000522011,;	uc003wzy.1	c.17T>G	276/1936	3	3			c.17T>G						8	SNP	c.(16-18)GTG>GGG	12	12				0	Broad	docking protein 2			21771096		0.582	ENSG00000147443	4615	g.chr8:21771096A>C	blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding							-46.21457	KEEP	10	3	-1	180	130	10	3	-1	16.515397	180	130	0.030769	1	0	0	0	0	1	0	0	0	--	--		0	C			DOK2_uc003wzx.1_Missense_Mutation_p.V6G|DOK2_uc003wzz.1_5'UTR|DOK2_uc010lth.1_5'UTR	123	GBM-12-0821-TP	p.V6G	A	GCCTTGTTTCACTGCCCCGTC	NM_003974	NP_003965	21771096	O60496	DOK2_HUMAN	0		Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	1	110	-	C	C			Missense_Mutation	6			PH.			
DOK2	0	broad.mit.edu	GRCh37	8	21767417	21767417	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6191-01	TCGA-76-6191-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276420.4:c.644G>A	p.Arg215His	p.R215H	ENST00000276420	NM_003974.2	215	cGt/cAt	0			1			T	R/H	uc003wzy.1	protein_coding	YES	CCDS6016.1			644/1239										0	c.(643-645)CGT>CAT			PROSITE_profiles:PS51064,hmmpanther:PTHR21258,hmmpanther:PTHR21258:SF14,Gene3D:2.30.29.30,Pfam_domain:PF02174,SMART_domains:SM00310,Superfamily_domains:SSF50729	docking protein 2				ENSP00000276420		5-May	0.000231	0.000291	0.000346			0.000319			rs200503110,COSM1673792	5-May	.		ENST00000276420	Transcript			blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	ENSG00000147443	g.chr8:21767417C>T	2991			MODERATE		3.48	medium	getma.org/?cm=msa&ty=f&p=DOK2_HUMAN&rb=147&re=247&var=R215H	getma.org/pdb.php?prot=DOK2_HUMAN&from=147&to=247&var=R215H	getma.org/?cm=var&var=hg19,8,21767417,C,T&fts=all	R215H	--	--	1																																		DOK2_uc003wzx.1_Missense_Mutation_p.R215H|DOK2_uc003wzz.1_Missense_Mutation_p.R61H|DOK2_uc010lth.1_Missense_Mutation_p.R61H	0,1	1		probably_damaging(1)	p.R215H	NM_003974	NP_003965		deleterious(0)	0,1	DOK2_HUMAN	DOK2	HGNC	O60496	DOK2_HUMAN		Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	G3V1Q1_HUMAN,E5RIG9_HUMAN		5	737	-			UPI000006F1DB	215			IRS-type PTB.		SNV	DOK2,missense_variant,p.Arg215His,ENST00000276420,NM_003974.2;DOK2,missense_variant,p.Arg61His,ENST00000544659,;DOK2,missense_variant,p.Val208Ile,ENST00000523932,;DOK2,missense_variant,p.Arg61His,ENST00000518197,;DOK2,3_prime_UTR_variant,,ENST00000517422,;DOK2,non_coding_transcript_exon_variant,,ENST00000524001,;DOK2,non_coding_transcript_exon_variant,,ENST00000522011,;	uc003wzy.1	c.644G>A	903/1936	2	2			c.644G>A						8	SNP	c.(643-645)CGT>CAT	29	29				0	Broad	docking protein 2			21767417		0.502	ENSG00000147443	4615	g.chr8:21767417C>T	blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding							62.114624	KEEP	13	12	-1	14	25	13	12	-1	62.770856	14	25	0.385965	1	0	0	0	0	1	0	0	0	--	--		0	T			DOK2_uc003wzx.1_Missense_Mutation_p.R215H|DOK2_uc003wzz.1_Missense_Mutation_p.R61H|DOK2_uc010lth.1_Missense_Mutation_p.R61H	274	GBM-76-6191-TP	p.R215H	C	GACGCAGCGACGGCCTGCCTC	NM_003974	NP_003965	21767417	O60496	DOK2_HUMAN	0		Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	5	737	-	T	T			Missense_Mutation	215			IRS-type PTB.			
DOK6	220164	broad.mit.edu	GRCh37	18	67345078	67345078	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01	TCGA-06-0649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382713.5:c.398G>A	p.Arg133Gln	p.R133Q	ENST00000382713	NM_152721.5	133	cGg/cAg	0			1			A	R/Q	uc002lkl.2	protein_coding	YES	CCDS32841.1			398/996									upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3	c.(397-399)CGG>CAG			PROSITE_profiles:PS51064,hmmpanther:PTHR21258:SF43,hmmpanther:PTHR21258,Gene3D:2.30.29.30,SMART_domains:SM00310,Superfamily_domains:SSF50729	docking protein 6				ENSP00000372160		8-Apr	1.65E-05		8.73E-05			1.51E-05			rs771061011,COSM1389589	8-Apr	.		ENST00000382713	Transcript					insulin receptor binding	ENSG00000206052	g.chr18:67345078G>A	28301			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=DOK6_HUMAN&rb=132&re=237&var=R133Q	getma.org/pdb.php?prot=DOK6_HUMAN&from=132&to=237&var=R133Q	getma.org/?cm=var&var=hg19,18,67345078,G,A&fts=all	R133Q	--	--	1																																			0,1	1		possibly_damaging(0.664)	p.R133Q	NM_152721	NP_689934		tolerated(0.22)	0,1	DOK6_HUMAN	DOK6	HGNC	Q6PKX4	DOK6_HUMAN					4	588	+		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	UPI000035EC7C	133			IRS-type PTB.		SNV	DOK6,missense_variant,p.Arg133Gln,ENST00000382713,NM_152721.5;DOK6,missense_variant,p.Arg37Gln,ENST00000582992,;DOK6,non_coding_transcript_exon_variant,,ENST00000584435,;DOK6,non_coding_transcript_exon_variant,,ENST00000582172,;	uc002lkl.2	c.398G>A	588/8890	2	2			c.398G>A						18	SNP	c.(397-399)CGG>CAG	36	36			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3	Broad	docking protein 6			67345078		0.438	ENSG00000206052	4619	g.chr18:67345078G>A			insulin receptor binding							16.540552	KEEP	5	4	-1	27	18	5	4	-1	21.576503	27	18	0.176471	1	0	0	0	0	1	0	0	0	--	--		0	A				62	GBM-06-0649-TP	p.R133Q	G	GGAGTGCAGCGGGAACAGAAT	NM_152721	NP_689934	67345078	Q6PKX4	DOK6_HUMAN	0			4	588	+	A	A		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	Missense_Mutation	133			IRS-type PTB.			
DOK6	220164	broad.mit.edu	GRCh37	18	67365777	67365777	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-1804-01	TCGA-06-1804-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382713.5:c.547T>A	p.Ser183Thr	p.S183T	ENST00000382713	NM_152721.5	183	Tca/Aca	0			1			A	S/T	uc002lkl.2	protein_coding	YES	CCDS32841.1			547/996									upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3	c.(547-549)TCA>ACA			PROSITE_profiles:PS51064,hmmpanther:PTHR21258:SF43,hmmpanther:PTHR21258,Pfam_domain:PF02174,Gene3D:2.30.29.30,SMART_domains:SM00310,Superfamily_domains:SSF50729	docking protein 6				ENSP00000372160		8-May									COSM3403626	8-May	.		ENST00000382713	Transcript					insulin receptor binding	ENSG00000206052	g.chr18:67365777T>A	28301			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=DOK6_HUMAN&rb=135&re=232&var=S183T	getma.org/pdb.php?prot=DOK6_HUMAN&from=135&to=232&var=S183T	getma.org/?cm=var&var=hg19,18,67365777,T,A&fts=all	S183T	--	--	1																																			1	1		possibly_damaging(0.593)	p.S183T	NM_152721	NP_689934		deleterious(0.02)	1	DOK6_HUMAN	DOK6	HGNC	Q6PKX4	DOK6_HUMAN					5	737	+		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	UPI000035EC7C	183			IRS-type PTB.		SNV	DOK6,missense_variant,p.Ser183Thr,ENST00000382713,NM_152721.5;DOK6,missense_variant,p.Ser87Thr,ENST00000582992,;DOK6,non_coding_transcript_exon_variant,,ENST00000584435,;DOK6,downstream_gene_variant,,ENST00000582172,;	uc002lkl.2	c.547T>A	737/8890	2	2			c.547T>A						18	SNP	c.(547-549)TCA>ACA	34	34			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3	Broad	docking protein 6			67365777		0.463	ENSG00000206052	4619	g.chr18:67365777T>A			insulin receptor binding							4.712233	KEEP	3	0	-1	11	6	3	0	-1	6.611263	11	6	0.166667	1	0	0	0	0	1	0	0	0	--	--		0	A				79	GBM-06-1804-TP	p.S183T	T	GCCTCTCAGCTCACTGAGGAG	NM_152721	NP_689934	67365777	Q6PKX4	DOK6_HUMAN	0			5	737	+	A	A		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	Missense_Mutation	183			IRS-type PTB.			
DOPEY1	0	broad.mit.edu	GRCh37	6	83830474	83830474	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01	TCGA-06-0744-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000349129.2:c.1063C>T	p.Arg355Cys	p.R355C	ENST00000349129	NM_015018.3	355	Cgc/Tgc	0			1			T	R/C	uc003pjs.1	protein_coding	YES	CCDS4996.1			1063/7398									ovary(2)|breast(1)|central_nervous_system(1)	4	c.(1063-1065)CGC>TGC			hmmpanther:PTHR14042:SF22,hmmpanther:PTHR14042	dopey family member 1				ENSP00000195654		Oct-39									COSM2151670,COSM3411308	Oct-39	.		ENST00000349129	Transcript			protein transport			ENSG00000083097	g.chr6:83830474C>T	21194			MODERATE		2.555	medium	getma.org/?cm=msa&ty=f&p=DOP1_HUMAN&rb=306&re=505&var=R355C	NA	getma.org/?cm=var&var=hg19,6,83830474,C,T&fts=all	R355C	--	--	1																																		DOPEY1_uc011dyy.1_Missense_Mutation_p.R346C|DOPEY1_uc010kbl.1_Missense_Mutation_p.R346C	1,1	1		probably_damaging(0.999)	p.R355C	NM_015018	NP_055833		deleterious(0)	1,1	DOP1_HUMAN	DOPEY1	HGNC	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)			10	1323	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	UPI00001C1574	355					SNV	DOPEY1,missense_variant,p.Arg355Cys,ENST00000349129,NM_015018.3;DOPEY1,missense_variant,p.Arg346Cys,ENST00000369739,NM_001199942.1;DOPEY1,missense_variant,p.Arg346Cys,ENST00000237163,;DOPEY1,3_prime_UTR_variant,,ENST00000536812,;DOPEY1,upstream_gene_variant,,ENST00000604380,;	uc003pjs.1	c.1063C>T	1323/8210	2	2			c.1063C>T						6	SNP	c.(1063-1065)CGC>TGC	47	47			ovary(2)|breast(1)|central_nervous_system(1)	4	Broad	dopey family member 1			83830474		0.368	ENSG00000083097	4625	g.chr6:83830474C>T	protein transport									39.365898	KEEP	10	5	-1	17	11	10	5	-1	40.086168	17	11	0.351351	1	0	0	0	0	1	0	0	0	--	--		0	T			DOPEY1_uc011dyy.1_Missense_Mutation_p.R346C|DOPEY1_uc010kbl.1_Missense_Mutation_p.R346C	66	GBM-06-0744-TP	p.R355C	C	AAAGCCTTTTCGCATTTTAAT	NM_015018	NP_055833	83830474	Q5JWR5	DOP1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(397;0.053)	10	1323	+	T	T		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	Missense_Mutation	355						
DOPEY1	0	broad.mit.edu	GRCh37	6	83841949	83841949	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5950-01	TCGA-19-5950-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000349129.2:c.2671C>T	p.Gln891Ter	p.Q891*	ENST00000349129	NM_015018.3	891	Cag/Tag	0			1			T	Q/*	uc003pjs.1	protein_coding	YES	CCDS4996.1			2671/7398									ovary(2)|breast(1)|central_nervous_system(1)	4	c.(2671-2673)CAG>TAG			hmmpanther:PTHR14042:SF22,hmmpanther:PTHR14042	dopey family member 1				ENSP00000195654		18/39									COSM2156560,COSM3411309	18/39	.		ENST00000349129	Transcript			protein transport			ENSG00000083097	g.chr6:83841949C>T	21194			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,6,83841949,C,T&fts=all	Q891*	--	--	1																																		DOPEY1_uc011dyy.1_Nonsense_Mutation_p.Q882*|DOPEY1_uc010kbl.1_Nonsense_Mutation_p.Q882*	1,1	1			p.Q891*	NM_015018	NP_055833			1,1	DOP1_HUMAN	DOPEY1	HGNC	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)			18	2931	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	UPI00001C1574	891					SNV	DOPEY1,stop_gained,p.Gln891Ter,ENST00000349129,NM_015018.3;DOPEY1,stop_gained,p.Gln882Ter,ENST00000369739,NM_001199942.1;DOPEY1,stop_gained,p.Gln872Ter,ENST00000237163,;DOPEY1,downstream_gene_variant,,ENST00000604380,;DOPEY1,non_coding_transcript_exon_variant,,ENST00000493541,;	uc003pjs.1	c.2671C>T	2931/8210	5	2			c.2671C>T						6	SNP	c.(2671-2673)CAG>TAG	36	36			ovary(2)|breast(1)|central_nervous_system(1)	4	Broad	dopey family member 1			83841949		0.373	ENSG00000083097	4625	g.chr6:83841949C>T	protein transport									137.215486	KEEP	25	24	-1	32	37	25	24	-1	137.807022	32	37	0.419048	1	0	0	0	0	0	1	0	0	--	--		0	T			DOPEY1_uc011dyy.1_Nonsense_Mutation_p.Q882*|DOPEY1_uc010kbl.1_Nonsense_Mutation_p.Q882*	170	GBM-19-5950-TP	p.Q891*	C	TCAGCATCACCAGAAGAGTGT	NM_015018	NP_055833	83841949	Q5JWR5	DOP1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(397;0.053)	18	2931	+	T	T		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	Nonsense_Mutation	891						
DOPEY1	0	broad.mit.edu	GRCh37	6	83847935	83847935	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-19-5955-01	TCGA-19-5955-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000349129.2:c.4174T>C	p.Leu1392=	p.L1392=	ENST00000349129	NM_015018.3	1392	Ttg/Ctg	0			1			C	L	uc003pjs.1	protein_coding	YES	CCDS4996.1			4174/7398									ovary(2)|breast(1)|central_nervous_system(1)	4	c.(4174-4176)TTG>CTG			hmmpanther:PTHR14042:SF22,hmmpanther:PTHR14042	dopey family member 1				ENSP00000195654		21/39									COSM3411310,COSM3411311	21/39	.		ENST00000349129	Transcript			protein transport			ENSG00000083097	g.chr6:83847935T>C	21194			LOW								--	--	1																																		DOPEY1_uc011dyy.1_Silent_p.L1383L|DOPEY1_uc010kbl.1_Silent_p.L1383L|DOPEY1_uc003pjt.2_RNA	1,1	1			p.L1392L	NM_015018	NP_055833			1,1	DOP1_HUMAN	DOPEY1	HGNC	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)			21	4434	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	UPI00001C1574	1392					SNV	DOPEY1,synonymous_variant,p.=,ENST00000349129,NM_015018.3;DOPEY1,synonymous_variant,p.=,ENST00000369739,NM_001199942.1;DOPEY1,synonymous_variant,p.=,ENST00000237163,;DOPEY1,non_coding_transcript_exon_variant,,ENST00000484282,;DOPEY1,downstream_gene_variant,,ENST00000493541,;	uc003pjs.1	c.4174T>C	4434/8210	3	3			c.4174T>C						6	SNP	c.(4174-4176)TTG>CTG	13	13			ovary(2)|breast(1)|central_nervous_system(1)	4	Broad	dopey family member 1			83847935		0.383	ENSG00000083097	4625	g.chr6:83847935T>C	protein transport									-52.10655	KEEP	5	0	-1	111	126	5	0	-1	8.354068	111	126	0.017391	1	0	0	0	0	0	0	1	0	--	--		0	C			DOPEY1_uc011dyy.1_Silent_p.L1383L|DOPEY1_uc010kbl.1_Silent_p.L1383L|DOPEY1_uc003pjt.2_RNA	175	GBM-19-5955-TP	p.L1392L	T	CAAAGCCATCTTGAAAACTAA	NM_015018	NP_055833	83847935	Q5JWR5	DOP1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(397;0.053)	21	4434	+	C	C		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	Silent	1392						
DOT1L	0	broad.mit.edu	GRCh37	19	2227030	2227030	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01	TCGA-32-4719-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398665.3:c.4510G>A	p.Ala1504Thr	p.A1504T	ENST00000398665	NM_032482.2	1504	Gcc/Acc	0			1			A	A/T	uc002lvb.3	protein_coding	YES	CCDS42460.1			4510/4614									pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4	c.(4510-4512)GCC>ACC			PIRSF_domain:PIRSF037123,hmmpanther:PTHR21451,hmmpanther:PTHR21451:SF0	DOT1-like, histone H3 methyltransferase				ENSP00000381657		27/28	1.70E-05					4.52E-05			rs768112599,COSM3404032,COSM3404031	27/28	.		ENST00000398665	Transcript				nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	ENSG00000104885	g.chr19:2227030G>A	24948			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=DOT1L_HUMAN&rb=337&re=1737&var=A1504T	NA	getma.org/?cm=var&var=hg19,19,2227030,G,A&fts=all	A1504T	--	--	1																																		DOT1L_uc002lvc.1_Missense_Mutation_p.A798T	0,1,1	1		probably_damaging(0.988)	p.A1504T	NM_032482	NP_115871		tolerated_low_confidence(0.15)	0,1,1	DOT1L_HUMAN	DOT1L	HGNC	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)			27	4546	+		Hepatocellular(1079;0.137)	UPI000002A839	1504					SNV	DOT1L,missense_variant,p.Ala1504Thr,ENST00000398665,NM_032482.2;DOT1L,missense_variant,p.Ala384Thr,ENST00000457590,;DOT1L,missense_variant,p.Ala39Thr,ENST00000446286,;PLEKHJ1,downstream_gene_variant,,ENST00000587394,;DOT1L,downstream_gene_variant,,ENST00000482433,;	uc002lvb.3	c.4510G>A	4546/7436	1	1			c.4510G>A						19	SNP	c.(4510-4512)GCC>ACC	54	54			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4	Broad	DOT1-like, histone H3 methyltransferase			2227030		0.697	ENSG00000104885	4627	g.chr19:2227030G>A		nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding							11.10024	KEEP	2	2	-1	10	6	2	2	-1	11.124119	10	6	0.444444	1	0	0	0	0	1	0	0	0	--	--		0	A			DOT1L_uc002lvc.1_Missense_Mutation_p.A798T	248	GBM-32-4719-TP	p.A1504T	G	TGTGCCGGCCGCCGCAGGCCT	NM_032482	NP_115871	2227030	Q8TEK3	DOT1L_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	27	4546	+	A	A		Hepatocellular(1079;0.137)	Missense_Mutation	1504						
DOT1L	84444		GRCh37	19	2216705	2216705	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000398665.3:c.2349G>A	p.Arg783=	p.R783=	ENST00000398665	NM_032482.2	783	cgG/cgA	0																																																																																																																																																																																																																																												
DPF1	8193	broad.mit.edu	GRCh37	19	38713080	38713080	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0033-01	TCGA-02-0033-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355526.4:c.296C>T	p.Thr99Met	p.T99M	ENST00000355526	NM_001135155.1	99	aCg/aTg	0			1			A	T/M	uc002ohl.2	protein_coding		CCDS33008.2			296/1143										0	c.(295-297)ACG>ATG			Pfam_domain:PF14051,hmmpanther:PTHR10615,hmmpanther:PTHR10615:SF92	D4, zinc and double PHD fingers family 1 isoform				ENSP00000397354		11-Mar									COSM3404179,COSM3404178	11-Mar	.		ENST00000420980	Transcript			induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding	ENSG00000011332	g.chr19:38713080G>A	20225			MODERATE		2.395	medium	getma.org/?cm=msa&ty=f&p=DPF1_HUMAN&rb=38&re=111&var=T99M	NA	getma.org/?cm=var&var=hg19,19,38713080,G,A&fts=all	T99M	--	--	1																																		DPF1_uc002ohm.2_Missense_Mutation_p.T99M|DPF1_uc002ohn.2_Missense_Mutation_p.T17M|DPF1_uc010xtu.1_Missense_Mutation_p.T73M|DPF1_uc010xtv.1_Missense_Mutation_p.T73M|DPF1_uc010xtw.1_Missense_Mutation_p.T73M	1,1			probably_damaging(0.954)	p.T99M	NM_004647	NP_004638		deleterious(0)	1,1	DPF1_HUMAN	DPF1	HGNC	Q92782	DPF1_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		K7EJD5_HUMAN,C9IZH8_HUMAN		3	323	-	all_cancers(60;1.24e-06)		UPI00018131F3	99					SNV	DPF1,missense_variant,p.Thr73Met,ENST00000416611,;DPF1,missense_variant,p.Thr17Met,ENST00000412732,NM_001135156.1;DPF1,missense_variant,p.Thr99Met,ENST00000420980,NM_004647.2;DPF1,missense_variant,p.Thr17Met,ENST00000414789,;DPF1,missense_variant,p.Thr99Met,ENST00000355526,NM_001135155.1;DPF1,missense_variant,p.Thr73Met,ENST00000456296,;DPF1,missense_variant,p.Thr17Met,ENST00000438060,;DPF1,missense_variant,p.Thr17Met,ENST00000438365,;DPF1,missense_variant,p.Thr17Met,ENST00000586624,;DPF1,synonymous_variant,p.=,ENST00000418517,;DPF1,non_coding_transcript_exon_variant,,ENST00000471976,;DPF1,non_coding_transcript_exon_variant,,ENST00000475938,;DPF1,upstream_gene_variant,,ENST00000473716,;DPF1,upstream_gene_variant,,ENST00000472656,;	uc002ohl.2	c.296C>T	323/2227	2	2			c.296C>T						19	SNP	c.(295-297)ACG>ATG	30	30				0	Broad	D4, zinc and double PHD fingers family 1 isoform			38713080		0.517	ENSG00000011332	4633	g.chr19:38713080G>A	induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding							41.968945	KEEP	8	21	-1	90	95	8	21	-1	66.529587	90	95	0.141414	1	0	0	0	0	1	0	0	0	--	--		0	A			DPF1_uc002ohm.2_Missense_Mutation_p.T99M|DPF1_uc002ohn.2_Missense_Mutation_p.T17M|DPF1_uc010xtu.1_Missense_Mutation_p.T73M|DPF1_uc010xtv.1_Missense_Mutation_p.T73M|DPF1_uc010xtw.1_Missense_Mutation_p.T73M	2	GBM-02-0033-TP	p.T99M	G	GGCGGGGTACGTGTAAATCTG	NM_004647	NP_004638	38713080	Q92782	DPF1_HUMAN	0	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		3	323	-	A	A	all_cancers(60;1.24e-06)		Missense_Mutation	99						
DPF2	5977	broad.mit.edu	GRCh37	11	65107936	65107936	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01	TCGA-06-0192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000528416.1:c.113G>A	p.Arg38His	p.R38H	ENST00000528416	NM_006268.4	38	cGc/cAc	0			1			A	R/H	uc001odm.2	protein_coding	YES	CCDS8100.1			113/1176									ovary(1)	1	c.(112-114)CGC>CAC			Pfam_domain:PF14051,hmmpanther:PTHR10615,hmmpanther:PTHR10615:SF13	D4, zinc and double PHD fingers family 2				ENSP00000436901		11-Feb	8.24E-06					1.50E-05			rs760880895,COSM3398045	11-Feb	.		ENST00000528416	Transcript			apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding	ENSG00000133884	g.chr11:65107936G>A	9964			MODERATE		2.66	medium	getma.org/?cm=msa&ty=f&p=REQU_HUMAN&rb=12&re=85&var=R38H	NA	getma.org/?cm=var&var=hg19,11,65107936,G,A&fts=all	R38H	--	--	1																																		DPF2_uc001odn.2_Missense_Mutation_p.R38H|DPF2_uc010roe.1_Missense_Mutation_p.R38H	0,1	1		probably_damaging(0.993)	p.R38H	NM_006268	NP_006259		deleterious(0)	0,1	REQU_HUMAN	DPF2	HGNC	Q92785	REQU_HUMAN					2	125	+			UPI000000D90F	38					SNV	DPF2,missense_variant,p.Arg38His,ENST00000528416,NM_006268.4;DPF2,missense_variant,p.Arg38His,ENST00000252268,;DPF2,missense_variant,p.Arg38His,ENST00000415073,;DPF2,intron_variant,,ENST00000532264,;DPF2,intron_variant,,ENST00000530993,;DPF2,missense_variant,p.Arg38His,ENST00000532102,;DPF2,non_coding_transcript_exon_variant,,ENST00000444314,;DPF2,intron_variant,,ENST00000524666,;DPF2,upstream_gene_variant,,ENST00000532052,;DPF2,upstream_gene_variant,,ENST00000530973,;DPF2,upstream_gene_variant,,ENST00000532492,;	uc001odm.2	c.113G>A	246/2799	2	2			c.113G>A						11	SNP	c.(112-114)CGC>CAC	45	45			ovary(1)	1	Broad	D4, zinc and double PHD fingers family 2			65107936		0.552	ENSG00000133884	4634	g.chr11:65107936G>A	apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding							-35.38741	KEEP	5	5	-1	88	131	5	5	-1	12.723731	88	131	0.038278	1	0	0	0	0	1	0	0	0	--	--		0	A			DPF2_uc001odn.2_Missense_Mutation_p.R38H|DPF2_uc010roe.1_Missense_Mutation_p.R38H	44	GBM-06-0192-TP	p.R38H	G	CGCAGCGTGCGCCTGCCTTTC	NM_006268	NP_006259	65107936	Q92785	REQU_HUMAN	0			2	125	+	A	A			Missense_Mutation	38						
DPH1	0	broad.mit.edu	GRCh37	17	1936938	1936938	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-32-4213-01	TCGA-32-4213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263083.6:c.216C>A	p.Ala72=	p.A72=	ENST00000263083	NM_001383.3	72	gcC/gcA	0			1			A	A	uc002fts.2	protein_coding	YES	CCDS42228.1			216/1332									pancreas(1)	1	c.(214-216)GCC>GCA			PIRSF_domain:PIRSF004967,hmmpanther:PTHR10762,hmmpanther:PTHR10762:SF1,TIGRFAM_domain:TIGR00322	diptheria toxin resistance protein required for				ENSP00000263083		13-Feb									COSM3402657	13-Feb	.		ENST00000263083	Transcript			peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus		ENSG00000108963	g.chr17:1936938C>A	3003			LOW								--	--	1																																		DPH1_uc002ftr.1_RNA|DPH1_uc002ftt.2_Silent_p.A67A|DPH1_uc010cjx.2_5'UTR|DPH1_uc010vqs.1_Silent_p.A82A	1	1			p.A72A	NM_001383	NP_001374			1	DPH1_HUMAN	DPH1	HGNC	Q9BZG8	DPH1_HUMAN			B3KQW7_HUMAN		2	234	+			UPI000013D3A0	72					SNV	DPH1,synonymous_variant,p.=,ENST00000263083,NM_001383.3;DPH1,synonymous_variant,p.=,ENST00000571418,;DPH1,5_prime_UTR_variant,,ENST00000570477,;DPH1,upstream_gene_variant,,ENST00000576891,;DPH1,synonymous_variant,p.=,ENST00000575667,;DPH1,non_coding_transcript_exon_variant,,ENST00000572819,;DPH1,non_coding_transcript_exon_variant,,ENST00000576129,;DPH1,upstream_gene_variant,,ENST00000572214,;DPH1,upstream_gene_variant,,ENST00000570833,;	uc002fts.2	c.216C>A	261/2221	2	2			c.216C>A						17	SNP	c.(214-216)GCC>GCA	45	45			pancreas(1)	1	Broad	diptheria toxin resistance protein required for			1936938		0.582	ENSG00000108963	4636	g.chr17:1936938C>A	peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus								-30.901419	KEEP	2	2	0.5	88	85	2	2	0.5	6.804976	88	85	0.026316	1	0	0	0	0	0	0	1	0	--	--		0	A			DPH1_uc002ftr.1_RNA|DPH1_uc002ftt.2_Silent_p.A67A|DPH1_uc010cjx.2_5'UTR|DPH1_uc010vqs.1_Silent_p.A82A	247	GBM-32-4213-TP	p.A72A	C	TCCAACAAGCCCAGGCCAAGA	NM_001383	NP_001374	1936938	Q9BZG8	DPH1_HUMAN	0			2	234	+	A	A			Silent	72						
DPP10	0	broad.mit.edu	GRCh37	2	116593731	116593731	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G			TCGA-12-0692-01	TCGA-12-0692-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000410059.1:c.1951-2A>G		p.X651_splice	ENST00000410059	NM_001178037.1			0			1			G		uc002tla.1	protein_coding		CCDS46400.1			1951/2391									ovary(5)|large_intestine(2)|skin(2)|breast(1)	10	c.e22-2				dipeptidyl peptidase 10 isoform long				ENSP00000386565											COSM3748088,COSM3748087		.		ENST00000410059	Transcript	1		proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	ENSG00000175497	g.chr2:116593731A>G	20823			HIGH	21/25							--	--	1																																		DPP10_uc002tlb.1_Splice_Site_p.G601_splice|DPP10_uc002tlc.1_Splice_Site_p.G647_splice|DPP10_uc002tle.2_Splice_Site_p.G655_splice|DPP10_uc002tlf.1_Splice_Site_p.G644_splice	1,1				p.G651_splice	NM_020868	NP_065919			1,1	DPP10_HUMAN	DPP10	HGNC	Q8N608	DPP10_HUMAN			Q53TB1_HUMAN,J3KQK8_HUMAN,C9J4M8_HUMAN		22	2408	+			UPI00001AEF55						SNV	DPP10,splice_acceptor_variant,,ENST00000410059,NM_001178037.1,NM_020868.3;DPP10,splice_acceptor_variant,,ENST00000409163,NM_001178036.1;DPP10,splice_acceptor_variant,,ENST00000310323,NM_001004360.3;DPP10,splice_acceptor_variant,,ENST00000393147,NM_001178034.1;DPP10,splice_acceptor_variant,,ENST00000473362,;	uc002tla.1	c.1951_splice	-/6278	5	3			c.1951_splice						2	SNP	c.e22-2	9	9			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10	Broad	dipeptidyl peptidase 10 isoform long			116593731		0.264	ENSG00000175497	4643	g.chr2:116593731A>G	proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity							26.673633	KEEP	4	5	-1	2	7	4	5	-1	26.673633	2	7	0.5	1	0	0	0	0	0	0	0	1	--	--		0	G			DPP10_uc002tlb.1_Splice_Site_p.G601_splice|DPP10_uc002tlc.1_Splice_Site_p.G647_splice|DPP10_uc002tle.2_Splice_Site_p.G655_splice|DPP10_uc002tlf.1_Splice_Site_p.G644_splice	122	GBM-12-0692-TP	p.G651_splice	A	TTTCCCCCCCAGGGTTATGGT	NM_020868	NP_065919	116593731	Q8N608	DPP10_HUMAN	0			22	2408	+	G	G			Splice_Site							
DPP10	0	broad.mit.edu	GRCh37	2	116447456	116447456	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01	TCGA-14-0790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000410059.1:c.535G>A	p.Val179Ile	p.V179I	ENST00000410059	NM_001178037.1	179	Gtc/Atc	0			1			A	V/I	uc002tla.1	protein_coding		CCDS46400.1			535/2391									ovary(5)|large_intestine(2)|skin(2)|breast(1)	10	c.(535-537)GTC>ATC			hmmpanther:PTHR11731:SF21,hmmpanther:PTHR11731,Pfam_domain:PF00930,Gene3D:2.140.10.30,Superfamily_domains:SSF82171	dipeptidyl peptidase 10 isoform long				ENSP00000386565		26-Jul									COSM1398949,COSM1398948	26-Jul	.		ENST00000410059	Transcript	1		proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	ENSG00000175497	g.chr2:116447456G>A	20823			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=DPP10_HUMAN&rb=133&re=500&var=V179I	getma.org/pdb.php?prot=DPP10_HUMAN&from=133&to=500&var=V179I	getma.org/?cm=var&var=hg19,2,116447456,G,A&fts=all	V179I	--	--	1																																		DPP10_uc002tlb.1_Missense_Mutation_p.V129I|DPP10_uc002tlc.1_Missense_Mutation_p.V175I|DPP10_uc002tle.2_Missense_Mutation_p.V183I|DPP10_uc002tlf.1_Missense_Mutation_p.V172I	1,1			benign(0.016)	p.V179I	NM_020868	NP_065919		tolerated(0.19)	1,1	DPP10_HUMAN	DPP10	HGNC	Q8N608	DPP10_HUMAN			Q53TB1_HUMAN,J3KQK8_HUMAN,C9J4M8_HUMAN		7	992	+			UPI00001AEF55	179			Extracellular (Potential).		SNV	DPP10,missense_variant,p.Val179Ile,ENST00000410059,NM_001178037.1,NM_020868.3;DPP10,missense_variant,p.Val129Ile,ENST00000409163,NM_001178036.1;DPP10,missense_variant,p.Val172Ile,ENST00000310323,NM_001004360.3;DPP10,missense_variant,p.Val183Ile,ENST00000393147,NM_001178034.1;DPP10,missense_variant,p.Val175Ile,ENST00000393146,;DPP10,non_coding_transcript_exon_variant,,ENST00000488208,;DPP10,3_prime_UTR_variant,,ENST00000429914,;	uc002tla.1	c.535G>A	1015/6278	2	2			c.535G>A						2	SNP	c.(535-537)GTC>ATC	36	36			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10	Broad	dipeptidyl peptidase 10 isoform long			116447456		0.438	ENSG00000175497	4643	g.chr2:116447456G>A	proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity							156.945143	KEEP	28	34	-1	34	31	28	34	-1	156.996739	34	31	0.47619	1	0	0	0	0	1	0	0	0	--	--		0	A			DPP10_uc002tlb.1_Missense_Mutation_p.V129I|DPP10_uc002tlc.1_Missense_Mutation_p.V175I|DPP10_uc002tle.2_Missense_Mutation_p.V183I|DPP10_uc002tlf.1_Missense_Mutation_p.V172I	137	GBM-14-0790-TP	p.V179I	G	AGAGGACTCCGTCTTGCAGTA	NM_020868	NP_065919	116447456	Q8N608	DPP10_HUMAN	0			7	992	+	A	A			Missense_Mutation	179			Extracellular (Potential).			
DPP10	0	broad.mit.edu	GRCh37	2	116548904	116548904	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-19-4068-01	TCGA-19-4068-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000410059.1:c.1672C>T	p.Arg558Ter	p.R558*	ENST00000410059	NM_001178037.1	558	Cga/Tga	0			1			T	R/*	uc002tla.1	protein_coding		CCDS46400.1			1672/2391									ovary(5)|large_intestine(2)|skin(2)|breast(1)	10	c.(1672-1674)CGA>TGA			hmmpanther:PTHR11731:SF21,hmmpanther:PTHR11731,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	dipeptidyl peptidase 10 isoform long				ENSP00000386565		19/26									COSM2156490,COSM2156489	19/26	.		ENST00000410059	Transcript	1		proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	ENSG00000175497	g.chr2:116548904C>T	20823			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,116548904,C,T&fts=all	R558*	--	--	1																																		DPP10_uc002tlb.1_Nonsense_Mutation_p.R508*|DPP10_uc002tlc.1_Nonsense_Mutation_p.R554*|DPP10_uc002tle.2_Nonsense_Mutation_p.R562*|DPP10_uc002tlf.1_Nonsense_Mutation_p.R551*	1,1				p.R558*	NM_020868	NP_065919			1,1	DPP10_HUMAN	DPP10	HGNC	Q8N608	DPP10_HUMAN			Q53TB1_HUMAN,J3KQK8_HUMAN,C9J4M8_HUMAN		19	2129	+			UPI00001AEF55	558			Extracellular (Potential).		SNV	DPP10,stop_gained,p.Arg558Ter,ENST00000410059,NM_001178037.1,NM_020868.3;DPP10,stop_gained,p.Arg508Ter,ENST00000409163,NM_001178036.1;DPP10,stop_gained,p.Arg551Ter,ENST00000310323,NM_001004360.3;DPP10,stop_gained,p.Arg562Ter,ENST00000393147,NM_001178034.1;	uc002tla.1	c.1672C>T	2152/6278	5	1			c.1672C>T						2	SNP	c.(1672-1674)CGA>TGA	4	4			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10	Broad	dipeptidyl peptidase 10 isoform long			116548904		0.289	ENSG00000175497	4643	g.chr2:116548904C>T	proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity							143.278205	KEEP	18	42	-1	56	72	18	42	-1	147.126922	56	72	0.326389	1	0	0	0	0	0	1	0	0	--	--		0	T			DPP10_uc002tlb.1_Nonsense_Mutation_p.R508*|DPP10_uc002tlc.1_Nonsense_Mutation_p.R554*|DPP10_uc002tle.2_Nonsense_Mutation_p.R562*|DPP10_uc002tlf.1_Nonsense_Mutation_p.R551*	168	GBM-19-4068-TP	p.R558*	C	TTTTATGGACCGAAACCAGTA	NM_020868	NP_065919	116548904	Q8N608	DPP10_HUMAN	0			19	2129	+	T	T			Nonsense_Mutation	558			Extracellular (Potential).			
DPP10	0	broad.mit.edu	GRCh37	2	116534868	116534868	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-27-2518-01	TCGA-27-2518-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000410059.1:c.1306C>A	p.Gln436Lys	p.Q436K	ENST00000410059	NM_001178037.1	436	Caa/Aaa	0			1			A	Q/K	uc002tla.1	protein_coding		CCDS46400.1			1306/2391									ovary(5)|large_intestine(2)|skin(2)|breast(1)	10	c.(1306-1308)CAA>AAA			hmmpanther:PTHR11731:SF21,hmmpanther:PTHR11731,Pfam_domain:PF00930,Gene3D:2.140.10.30,Superfamily_domains:SSF82171	dipeptidyl peptidase 10 isoform long				ENSP00000386565		14/26									COSM2157287,COSM2157286	14/26	.		ENST00000410059	Transcript	1		proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	ENSG00000175497	g.chr2:116534868C>A	20823			MODERATE		1.2	low	getma.org/?cm=msa&ty=f&p=DPP10_HUMAN&rb=133&re=500&var=Q436K	getma.org/pdb.php?prot=DPP10_HUMAN&from=133&to=500&var=Q436K	getma.org/?cm=var&var=hg19,2,116534868,C,A&fts=all	Q436K	--	--	1																																		DPP10_uc002tlb.1_Missense_Mutation_p.Q386K|DPP10_uc002tlc.1_Missense_Mutation_p.Q432K|DPP10_uc002tle.2_Missense_Mutation_p.Q440K|DPP10_uc002tlf.1_Missense_Mutation_p.Q429K	1,1			benign(0.012)	p.Q436K	NM_020868	NP_065919		tolerated(0.49)	1,1	DPP10_HUMAN	DPP10	HGNC	Q8N608	DPP10_HUMAN			Q53TB1_HUMAN,J3KQK8_HUMAN,C9J4M8_HUMAN		14	1763	+			UPI00001AEF55	436			Extracellular (Potential).		SNV	DPP10,missense_variant,p.Gln436Lys,ENST00000410059,NM_001178037.1,NM_020868.3;DPP10,missense_variant,p.Gln386Lys,ENST00000409163,NM_001178036.1;DPP10,missense_variant,p.Gln429Lys,ENST00000310323,NM_001004360.3;DPP10,missense_variant,p.Gln440Lys,ENST00000393147,NM_001178034.1;	uc002tla.1	c.1306C>A	1786/6278	1	1			c.1306C>A						2	SNP	c.(1306-1308)CAA>AAA	62	62			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10	Broad	dipeptidyl peptidase 10 isoform long			116534868		0.378	ENSG00000175497	4643	g.chr2:116534868C>A	proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity							77.861138	KEEP	15	19	0.558823529	29	41	15	19	0.558823529	81.149614	29	41	0.301075	1	0	0	0	0	1	0	0	0	--	--		0	A			DPP10_uc002tlb.1_Missense_Mutation_p.Q386K|DPP10_uc002tlc.1_Missense_Mutation_p.Q432K|DPP10_uc002tle.2_Missense_Mutation_p.Q440K|DPP10_uc002tlf.1_Missense_Mutation_p.Q429K	198	GBM-27-2518-TP	p.Q436K	C	TGAAACTACTCAAAAAATGTG	NM_020868	NP_065919	116534868	Q8N608	DPP10_HUMAN	0			14	1763	+	A	A			Missense_Mutation	436			Extracellular (Potential).			
DPP10	0	broad.mit.edu	GRCh37	2	116447456	116447456	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2514-01	TCGA-28-2514-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000410059.1:c.535G>A	p.Val179Ile	p.V179I	ENST00000410059	NM_001178037.1	179	Gtc/Atc	0			1			A	V/I	uc002tla.1	protein_coding		CCDS46400.1			535/2391									ovary(5)|large_intestine(2)|skin(2)|breast(1)	10	c.(535-537)GTC>ATC			hmmpanther:PTHR11731:SF21,hmmpanther:PTHR11731,Pfam_domain:PF00930,Gene3D:2.140.10.30,Superfamily_domains:SSF82171	dipeptidyl peptidase 10 isoform long				ENSP00000386565		26-Jul									COSM1398949,COSM1398948	26-Jul	.		ENST00000410059	Transcript	1		proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	ENSG00000175497	g.chr2:116447456G>A	20823			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=DPP10_HUMAN&rb=133&re=500&var=V179I	getma.org/pdb.php?prot=DPP10_HUMAN&from=133&to=500&var=V179I	getma.org/?cm=var&var=hg19,2,116447456,G,A&fts=all	V179I	--	--	1																																		DPP10_uc002tlb.1_Missense_Mutation_p.V129I|DPP10_uc002tlc.1_Missense_Mutation_p.V175I|DPP10_uc002tle.2_Missense_Mutation_p.V183I|DPP10_uc002tlf.1_Missense_Mutation_p.V172I	1,1			benign(0.016)	p.V179I	NM_020868	NP_065919		tolerated(0.19)	1,1	DPP10_HUMAN	DPP10	HGNC	Q8N608	DPP10_HUMAN			Q53TB1_HUMAN,J3KQK8_HUMAN,C9J4M8_HUMAN		7	992	+			UPI00001AEF55	179			Extracellular (Potential).		SNV	DPP10,missense_variant,p.Val179Ile,ENST00000410059,NM_001178037.1,NM_020868.3;DPP10,missense_variant,p.Val129Ile,ENST00000409163,NM_001178036.1;DPP10,missense_variant,p.Val172Ile,ENST00000310323,NM_001004360.3;DPP10,missense_variant,p.Val183Ile,ENST00000393147,NM_001178034.1;DPP10,missense_variant,p.Val175Ile,ENST00000393146,;DPP10,non_coding_transcript_exon_variant,,ENST00000488208,;DPP10,3_prime_UTR_variant,,ENST00000429914,;	uc002tla.1	c.535G>A	1015/6278	2	2			c.535G>A						2	SNP	c.(535-537)GTC>ATC	36	36			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10	Broad	dipeptidyl peptidase 10 isoform long			116447456		0.438	ENSG00000175497	4643	g.chr2:116447456G>A	proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity							125.172851	KEEP	36	16	-1	41	45	36	16	-1	126.472181	41	45	0.385965	1	0	0	0	0	1	0	0	0	--	--		0	A			DPP10_uc002tlb.1_Missense_Mutation_p.V129I|DPP10_uc002tlc.1_Missense_Mutation_p.V175I|DPP10_uc002tle.2_Missense_Mutation_p.V183I|DPP10_uc002tlf.1_Missense_Mutation_p.V172I	214	GBM-28-2514-TP	p.V179I	G	AGAGGACTCCGTCTTGCAGTA	NM_020868	NP_065919	116447456	Q8N608	DPP10_HUMAN	0			7	992	+	A	A			Missense_Mutation	179			Extracellular (Potential).			
DPP10	0	broad.mit.edu	GRCh37	2	116497460	116497460	+	synonymous_variant	Silent	SNP	G	G	A	rs146251151		TCGA-32-1970-01	TCGA-32-1970-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000410059.1:c.843G>A	p.Pro281=	p.P281=	ENST00000410059	NM_001178037.1	281	ccG/ccA	0	A:0.0002	A:0	1	A:0		A	P	uc002tla.1	protein_coding		CCDS46400.1			843/2391									ovary(5)|large_intestine(2)|skin(2)|breast(1)	10	c.(841-843)CCG>CCA			hmmpanther:PTHR11731:SF21,hmmpanther:PTHR11731,Pfam_domain:PF00930,Gene3D:2.140.10.30,Superfamily_domains:SSF82171	dipeptidyl peptidase 10 isoform long		A:0.001	A:0.0001	ENSP00000386565	A:0	26-Sep	9.06E-05	0.000288				0.000105		6.06E-05	rs146251151,COSM3406810,COSM3406809	26-Sep	.		ENST00000410059	Transcript	1	A:0.0002	proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	ENSG00000175497	g.chr2:116497460G>A	20823			LOW								--	--	1																																		DPP10_uc002tlb.1_Silent_p.P231P|DPP10_uc002tlc.1_Silent_p.P277P|DPP10_uc002tle.2_Silent_p.P285P|DPP10_uc002tlf.1_Silent_p.P274P	0,1,1				p.P281P	NM_020868	NP_065919	A:0		0,1,1	DPP10_HUMAN	DPP10	HGNC	Q8N608	DPP10_HUMAN			Q53TB1_HUMAN,J3KQK8_HUMAN,C9J4M8_HUMAN		9	1300	+			UPI00001AEF55	281			Extracellular (Potential).		SNV	DPP10,synonymous_variant,p.=,ENST00000410059,NM_001178037.1,NM_020868.3;DPP10,synonymous_variant,p.=,ENST00000409163,NM_001178036.1;DPP10,synonymous_variant,p.=,ENST00000310323,NM_001004360.3;DPP10,synonymous_variant,p.=,ENST00000393147,NM_001178034.1;DPP10,downstream_gene_variant,,ENST00000393146,;DPP10,downstream_gene_variant,,ENST00000488208,;	uc002tla.1	c.843G>A	1323/6278	2	2			c.843G>A						2	SNP	c.(841-843)CCG>CCA	30	30			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10	Broad	dipeptidyl peptidase 10 isoform long			116497460		0.423	ENSG00000175497	4643	g.chr2:116497460G>A	proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity							233.473479	KEEP	50	66	-1	90	87	50	66	-1	236.017545	90	87	0.381643	1	0	0	0	0	0	0	1	0	--	--		0	A			DPP10_uc002tlb.1_Silent_p.P231P|DPP10_uc002tlc.1_Silent_p.P277P|DPP10_uc002tle.2_Silent_p.P285P|DPP10_uc002tlf.1_Silent_p.P274P	228	GBM-32-1970-TP	p.P281P	G	AGCAGTATCCGTATCCTAAGG	NM_020868	NP_065919	116497460	Q8N608	DPP10_HUMAN	0			9	1300	+	A	A			Silent	281			Extracellular (Potential).			
DPP10	0	broad.mit.edu	GRCh37	2	116548668	116548668	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-32-4210-01	TCGA-32-4210-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000410059.1:c.1543T>A	p.Leu515Met	p.L515M	ENST00000410059	NM_001178037.1	515	Ttg/Atg	0			1			A	L/M	uc002tla.1	protein_coding		CCDS46400.1			1543/2391									ovary(5)|large_intestine(2)|skin(2)|breast(1)	10	c.(1543-1545)TTG>ATG			hmmpanther:PTHR11731:SF21,hmmpanther:PTHR11731,Gene3D:2.140.10.30,Superfamily_domains:SSF82171	dipeptidyl peptidase 10 isoform long				ENSP00000386565		18/26									COSM3406812,COSM3406811	18/26	.		ENST00000410059	Transcript	1		proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	ENSG00000175497	g.chr2:116548668T>A	20823			MODERATE		2.16	medium	getma.org/?cm=msa&ty=f&p=DPP10_HUMAN&rb=501&re=579&var=L515M	getma.org/pdb.php?prot=DPP10_HUMAN&from=501&to=579&var=L515M	getma.org/?cm=var&var=hg19,2,116548668,T,A&fts=all	L515M	--	--	1																																		DPP10_uc002tlb.1_Missense_Mutation_p.L465M|DPP10_uc002tlc.1_Missense_Mutation_p.L511M|DPP10_uc002tle.2_Missense_Mutation_p.L519M|DPP10_uc002tlf.1_Missense_Mutation_p.L508M	1,1			probably_damaging(0.986)	p.L515M	NM_020868	NP_065919		deleterious(0)	1,1	DPP10_HUMAN	DPP10	HGNC	Q8N608	DPP10_HUMAN			Q53TB1_HUMAN,J3KQK8_HUMAN,C9J4M8_HUMAN		18	2000	+			UPI00001AEF55	515			Extracellular (Potential).		SNV	DPP10,missense_variant,p.Leu515Met,ENST00000410059,NM_001178037.1,NM_020868.3;DPP10,missense_variant,p.Leu465Met,ENST00000409163,NM_001178036.1;DPP10,missense_variant,p.Leu508Met,ENST00000310323,NM_001004360.3;DPP10,missense_variant,p.Leu519Met,ENST00000393147,NM_001178034.1;	uc002tla.1	c.1543T>A	2023/6278	2	2			c.1543T>A						2	SNP	c.(1543-1545)TTG>ATG	33	33			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10	Broad	dipeptidyl peptidase 10 isoform long			116548668		0.303	ENSG00000175497	4643	g.chr2:116548668T>A	proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity							70.099167	KEEP	13	13	-1	34	26	13	13	-1	72.597429	34	26	0.306667	1	0	0	0	0	1	0	0	0	--	--		0	A			DPP10_uc002tlb.1_Missense_Mutation_p.L465M|DPP10_uc002tlc.1_Missense_Mutation_p.L511M|DPP10_uc002tle.2_Missense_Mutation_p.L519M|DPP10_uc002tlf.1_Missense_Mutation_p.L508M	245	GBM-32-4210-TP	p.L515M	T	ATATTTTATATTGGAAAGCAA	NM_020868	NP_065919	116548668	Q8N608	DPP10_HUMAN	0			18	2000	+	A	A			Missense_Mutation	515			Extracellular (Potential).			
DPP3	0	broad.mit.edu	GRCh37	11	66252660	66252660	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000541961.1:c.287C>T	p.Ala96Val	p.A96V	ENST00000541961		96	gCc/gTc	0			1			T	A/V	uc001oig.1	protein_coding		CCDS8141.1			287/2214									ovary(1)|skin(1)	2	c.(286-288)GCC>GTC			hmmpanther:PTHR23422:SF10,hmmpanther:PTHR23422,PIRSF_domain:PIRSF007828	dipeptidyl peptidase III				ENSP00000440502		18-Mar									COSM3398061	18-Mar	.		ENST00000541961	Transcript			proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	ENSG00000254986	g.chr11:66252660C>T	3008			MODERATE		1.03	low	getma.org/?cm=msa&ty=f&p=DPP3_HUMAN&rb=1&re=140&var=A96V	getma.org/pdb.php?prot=DPP3_HUMAN&from=1&to=140&var=A96V	getma.org/?cm=var&var=hg19,11,66252660,C,T&fts=all	A96V	--	--	1																																		DPP3_uc001oif.1_Missense_Mutation_p.A96V|DPP3_uc010rpe.1_Intron	1			benign(0.005)	p.A96V	NM_005700	NP_005691		tolerated(0.08)	1	DPP3_HUMAN	DPP3	HGNC	Q9NY33	DPP3_HUMAN			E9PQF2_HUMAN,E9PQ14_HUMAN,E9PPK9_HUMAN,E9PNX5_HUMAN		3	349	+			UPI000012983B	96					SNV	DPP3,missense_variant,p.Ala115Val,ENST00000532677,NM_130443.3,NM_005700.4,NM_001256670.1;DPP3,missense_variant,p.Ala116Val,ENST00000531863,;DPP3,missense_variant,p.Ala96Val,ENST00000360510,;DPP3,missense_variant,p.Ala96Val,ENST00000453114,;DPP3,missense_variant,p.Ala96Val,ENST00000541961,;DPP3,missense_variant,p.Ala96Val,ENST00000531354,;DPP3,5_prime_UTR_variant,,ENST00000533725,;DPP3,5_prime_UTR_variant,,ENST00000532019,;DPP3,intron_variant,,ENST00000530165,;DPP3,intron_variant,,ENST00000526515,;DPP3,downstream_gene_variant,,ENST00000531314,;CTD-3074O7.5,upstream_gene_variant,,ENST00000527274,;CTD-3074O7.5,upstream_gene_variant,,ENST00000527092,;CTD-3074O7.5,upstream_gene_variant,,ENST00000533502,;CTD-3074O7.5,upstream_gene_variant,,ENST00000525142,;DPP3,non_coding_transcript_exon_variant,,ENST00000531272,;DPP3,non_coding_transcript_exon_variant,,ENST00000544603,;	uc001oig.1	c.287C>T	343/2676	2	2			c.287C>T						11	SNP	c.(286-288)GCC>GTC	42	42			ovary(1)|skin(1)	2	Broad	dipeptidyl peptidase III			66252660		0.592	ENSG00000254986	4644	g.chr11:66252660C>T	proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity							-2.415491	KEEP	0	3	-1	22	30	0	3	-1	6.888249	22	30	0.06383	1	0	0	0	0	1	0	0	0	--	--		0	T			DPP3_uc001oif.1_Missense_Mutation_p.A96V|DPP3_uc010rpe.1_Intron	160	GBM-19-1790-TP	p.A96V	C	CTGGTCTATGCCGCGGGTGTT	NM_005700	NP_005691	66252660	Q9NY33	DPP3_HUMAN	0			3	349	+	T	T			Missense_Mutation	96						
DPP6	0	broad.mit.edu	GRCh37	7	154561187	154561187	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-41-3392-01	TCGA-41-3392-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377770.3:c.944A>G	p.Tyr315Cys	p.Y315C	ENST00000377770		315	tAc/tGc	0			1			G	Y/C	uc003wlk.2	protein_coding	YES				944/2598									pancreas(3)|breast(1)	4	c.(943-945)TAC>TGC			Superfamily_domains:SSF82171,Gene3D:2.140.10.30,Pfam_domain:PF00930,hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF20	dipeptidyl-peptidase 6 isoform 1				ENSP00000367001		26-Sep									COSM3411850,COSM3411849,COSM3411848	26-Sep	.		ENST00000377770	Transcript	1		cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	ENSG00000130226	g.chr7:154561187A>G	3010			MODERATE		3.295	medium	getma.org/?cm=msa&ty=f&p=DPP6_HUMAN&rb=195&re=561&var=Y315C	getma.org/pdb.php?prot=DPP6_HUMAN&from=195&to=561&var=Y315C	getma.org/?cm=var&var=hg19,7,154561187,A,G&fts=all	Y315C	--	--	1																																		DPP6_uc003wli.2_Missense_Mutation_p.Y251C|DPP6_uc003wlm.2_Missense_Mutation_p.Y253C|DPP6_uc011kvq.1_Missense_Mutation_p.Y208C	1,1,1	1		probably_damaging(1)	p.Y315C	NM_130797	NP_570629		deleterious(0)	1,1,1	DPP6_HUMAN	DPP6	HGNC	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		Q75MI8_HUMAN,Q75MI7_HUMAN,Q75MF0_HUMAN		9	1073	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	UPI00001AE746	315			Extracellular (Potential).		SNV	DPP6,missense_variant,p.Tyr251Cys,ENST00000404039,NM_130797.2,NM_001936.3,NM_001039350.1;DPP6,missense_variant,p.Tyr253Cys,ENST00000332007,;DPP6,missense_variant,p.Tyr315Cys,ENST00000377770,;DPP6,missense_variant,p.Tyr208Cys,ENST00000427557,;	uc003wlk.2	c.944A>G	1085/3710	3	3			c.944A>G						7	SNP	c.(943-945)TAC>TGC	63	63			pancreas(3)|breast(1)	4	Broad	dipeptidyl-peptidase 6 isoform 1			154561187		0.527	ENSG00000130226	4646	g.chr7:154561187A>G	cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	NSCLC(125;1384 1783 2490 7422 34254)			NSCLC(125;1384 1783 2490 7422 34254)			-4.947776	KEEP	7	7	-1	90	88	7	7	-1	23.688894	90	88	0.067568	1	0	0	0	0	1	0	0	0	--	--		0	G			DPP6_uc003wli.2_Missense_Mutation_p.Y251C|DPP6_uc003wlm.2_Missense_Mutation_p.Y253C|DPP6_uc011kvq.1_Missense_Mutation_p.Y208C	254	GBM-41-3392-TP	p.Y315C	A	AGACTCGCCTACGCCGCCATC	NM_130797	NP_570629	154561187	P42658	DPP6_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		9	1073	+	G	G	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	Missense_Mutation	315			Extracellular (Potential).			
DPP9	91039		GRCh37	19	4704202	4704202	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000262960.9:c.541C>T	p.Leu181Phe	p.L181F	ENST00000262960	NM_139159.4	181	Ctc/Ttc	0																																																																																																																																																																																																																																												
DPPA2	0	broad.mit.edu	GRCh37	3	109028077	109028077	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-14-0740-01	TCGA-14-0740-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000478945.1:c.282G>C	p.Lys94Asn	p.K94N	ENST00000478945	NM_138815.3	94	aaG/aaC	0			1			G	K/N	uc003dxo.2	protein_coding	YES	CCDS2956.1			282/897									ovary(2)|upper_aerodigestive_tract(1)	3	c.(280-282)AAG>AAC			PROSITE_profiles:PS50800,hmmpanther:PTHR16073,hmmpanther:PTHR16073:SF7	developmental pluripotency associated 2				ENSP00000417710		9-Apr	8.24E-06							6.06E-05	rs775395763,COSM3408106	9-Apr	.		ENST00000478945	Transcript				nucleus	nucleic acid binding	ENSG00000163530	g.chr3:109028077C>G	19197			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=DPPA2_HUMAN&rb=92&re=126&var=K94N	NA	getma.org/?cm=var&var=hg19,3,109028077,C,G&fts=all	K94N	--	--	1																																			0,1	1		benign(0.026)	p.K94N	NM_138815	NP_620170		tolerated(0.15)	0,1	DPPA2_HUMAN	DPPA2	HGNC	Q7Z7J5	DPPA2_HUMAN					4	529	-			UPI000007143F	94			SAP.		SNV	DPPA2,missense_variant,p.Lys94Asn,ENST00000478945,NM_138815.3;	uc003dxo.2	c.282G>C	529/1383	4	4			c.282G>C						3	SNP	c.(280-282)AAG>AAC	29	29			ovary(2)|upper_aerodigestive_tract(1)	3	Broad	developmental pluripotency associated 2			109028077		0.443	ENSG00000163530	4650	g.chr3:109028077C>G		nucleus	nucleic acid binding							-37.876104	KEEP	7	4	-1	133	140	7	4	-1	21.975134	133	140	0.038462	1	0	0	0	0	1	0	0	0	--	--		0	G				132	GBM-14-0740-TP	p.K94N	C	CCCGACACACCTTATTAATGG	NM_138815	NP_620170	109028077	Q7Z7J5	DPPA2_HUMAN	0			4	529	-	G	G			Missense_Mutation	94			SAP.			
DPPA2	0	broad.mit.edu	GRCh37	3	109026881	109026881	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01	TCGA-27-2526-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000478945.1:c.656C>T	p.Ser219Phe	p.S219F	ENST00000478945	NM_138815.3	219	tCt/tTt	0			1			A	S/F	uc003dxo.2	protein_coding	YES	CCDS2956.1			656/897									ovary(2)|upper_aerodigestive_tract(1)	3	c.(655-657)TCT>TTT			hmmpanther:PTHR16073,hmmpanther:PTHR16073:SF7	developmental pluripotency associated 2				ENSP00000417710		9-Jun									COSM3408105	9-Jun	.		ENST00000478945	Transcript				nucleus	nucleic acid binding	ENSG00000163530	g.chr3:109026881G>A	19197			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=DPPA2_HUMAN&rb=186&re=249&var=S219F	NA	getma.org/?cm=var&var=hg19,3,109026881,G,A&fts=all	S219F	--	--	1																																			1	1		benign(0.003)	p.S219F	NM_138815	NP_620170		tolerated(0.15)	1	DPPA2_HUMAN	DPPA2	HGNC	Q7Z7J5	DPPA2_HUMAN					6	903	-			UPI000007143F	219					SNV	DPPA2,missense_variant,p.Ser219Phe,ENST00000478945,NM_138815.3;	uc003dxo.2	c.656C>T	903/1383	2	2			c.656C>T						3	SNP	c.(655-657)TCT>TTT	18	18			ovary(2)|upper_aerodigestive_tract(1)	3	Broad	developmental pluripotency associated 2			109026881		0.438	ENSG00000163530	4650	g.chr3:109026881G>A		nucleus	nucleic acid binding							113.116215	KEEP	16	21	-1	23	25	16	21	-1	113.254903	23	25	0.454545	1	0	0	0	0	1	0	0	0	--	--		0	A				203	GBM-27-2526-TP	p.S219F	G	GATCTTACCAGAGGCTTGCAT	NM_138815	NP_620170	109026881	Q7Z7J5	DPPA2_HUMAN	0			6	903	-	A	A			Missense_Mutation	219						
DPPA3	0	broad.mit.edu	GRCh37	12	7869602	7869602	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01	TCGA-28-5209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345088.2:c.409G>A	p.Val137Met	p.V137M	ENST00000345088	NM_199286.2	137	Gtg/Atg	0		A:0	1	A:0		A	V/M	uc001qtf.2	protein_coding	YES	CCDS8582.1			409/480										0	c.(409-411)GTG>ATG			hmmpanther:PTHR31577,hmmpanther:PTHR31577:SF2,Pfam_domain:PF15549	stella		A:0		ENSP00000339250	A:0	4-Apr	6.59E-05		8.64E-05			4.50E-05		0.000242	rs571145972,COSM468936	4-Apr	.		ENST00000345088	Transcript				cytoplasm|nucleus		ENSG00000187569	g.chr12:7869602G>A	19199			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=DPPA3_HUMAN&rb=5&re=157&var=V137M	NA	getma.org/?cm=var&var=hg19,12,7869602,G,A&fts=all	V137M	--	--	1																																			0,1	1		benign(0.291)	p.V137M	NM_199286	NP_954980	A:0.001	deleterious(0.03)	0,1	DPPA3_HUMAN	DPPA3	HGNC	Q6W0C5	DPPA3_HUMAN		Kidney(36;0.0887)			4	487	+			UPI00001981F7	137					SNV	DPPA3,missense_variant,p.Val137Met,ENST00000345088,NM_199286.2;	uc001qtf.2	c.409G>A	526/1079	2	2			c.409G>A						12	SNP	c.(409-411)GTG>ATG	44	44				0	Broad	stella			7869602		0.378	ENSG00000187569	4651	g.chr12:7869602G>A		cytoplasm|nucleus								267.233489	KEEP	56	42	-1	62	93	56	42	-1	268.836726	62	93	0.408257	1	0	0	0	0	1	0	0	0	--	--		0	A				218	GBM-28-5209-TP	p.V137M	G	CAGTTTCTGCGTGTCTAATGG	NM_199286	NP_954980	7869602	Q6W0C5	DPPA3_HUMAN	0		Kidney(36;0.0887)	4	487	+	A	A			Missense_Mutation	137						
DPPA4	55211	broad.mit.edu	GRCh37	3	109050752	109050752	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5414-01	TCGA-06-5414-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335658.6:c.305G>A	p.Trp102Ter	p.W102*	ENST00000335658	NM_018189.3	102	tGg/tAg	0			1			T	W/*	uc003dxq.3	protein_coding	YES	CCDS33814.1			305/915									upper_aerodigestive_tract(1)	1	c.(304-306)TGG>TAG			hmmpanther:PTHR16073,hmmpanther:PTHR16073:SF8	developmental pluripotency associated 4				ENSP00000335306		7-Mar									COSM3408109	7-Mar	.		ENST00000335658	Transcript				nucleus	protein binding	ENSG00000121570	g.chr3:109050752C>T	19200			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,3,109050752,C,T&fts=all	W102*	--	--	1																																		DPPA4_uc011bho.1_Nonsense_Mutation_p.W102*|DPPA4_uc011bhp.1_Nonsense_Mutation_p.W102*	1	1			p.W102*	NM_018189	NP_060659			1	DPPA4_HUMAN	DPPA4	HGNC	Q7L190	DPPA4_HUMAN			C9J7A7_HUMAN		3	360	-			UPI000022C153	102					SNV	DPPA4,stop_gained,p.Trp102Ter,ENST00000335658,NM_018189.3;DPPA4,downstream_gene_variant,,ENST00000477303,;DPPA4,non_coding_transcript_exon_variant,,ENST00000478791,;DPPA4,non_coding_transcript_exon_variant,,ENST00000463966,;DPPA4,3_prime_UTR_variant,,ENST00000495679,;DPPA4,non_coding_transcript_exon_variant,,ENST00000487299,;DPPA4,upstream_gene_variant,,ENST00000475135,;DPPA4,downstream_gene_variant,,ENST00000489281,;	uc003dxq.3	c.305G>A	360/2817	5	2			c.305G>A						3	SNP	c.(304-306)TGG>TAG	33	33			upper_aerodigestive_tract(1)	1	Broad	developmental pluripotency associated 4			109050752		0.532	ENSG00000121570	4652	g.chr3:109050752C>T		nucleus	protein binding							237.797203	KEEP	38	44	-1	69	61	38	44	-1	239.428015	69	61	0.402062	1	0	0	0	0	0	1	0	0	--	--		0	T			DPPA4_uc011bho.1_Nonsense_Mutation_p.W102*|DPPA4_uc011bhp.1_Nonsense_Mutation_p.W102*	97	GBM-06-5414-TP	p.W102*	C	TTGTTGGCACCAGGCCCGCAG	NM_018189	NP_060659	109050752	Q7L190	DPPA4_HUMAN	0			3	360	-	T	T			Nonsense_Mutation	102						
DPPA4	0	broad.mit.edu	GRCh37	3	109046838	109046838	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-14-1829-01	TCGA-14-1829-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335658.6:c.912A>C	p.Glu304Asp	p.E304D	ENST00000335658	NM_018189.3	304	gaA/gaC	0			1			G	E/D	uc003dxq.3	protein_coding	YES	CCDS33814.1			912/915									upper_aerodigestive_tract(1)	1	c.(910-912)GAA>GAC			hmmpanther:PTHR16073,hmmpanther:PTHR16073:SF8	developmental pluripotency associated 4				ENSP00000335306		7-Jul									COSM3408107	7-Jul	.		ENST00000335658	Transcript				nucleus	protein binding	ENSG00000121570	g.chr3:109046838T>G	19200			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=DPPA4_HUMAN&rb=266&re=304&var=E304D	NA	getma.org/?cm=var&var=hg19,3,109046838,T,G&fts=all	E304D	--	--	1																																		DPPA4_uc011bho.1_3'UTR	1	1		benign(0.001)	p.E304D	NM_018189	NP_060659		tolerated_low_confidence(0.55)	1	DPPA4_HUMAN	DPPA4	HGNC	Q7L190	DPPA4_HUMAN			C9J7A7_HUMAN		7	967	-			UPI000022C153	304					SNV	DPPA4,missense_variant,p.Glu304Asp,ENST00000335658,NM_018189.3;DPPA4,downstream_gene_variant,,ENST00000477303,;DPPA4,non_coding_transcript_exon_variant,,ENST00000463966,;DPPA4,downstream_gene_variant,,ENST00000478791,;DPPA4,non_coding_transcript_exon_variant,,ENST00000475135,;DPPA4,downstream_gene_variant,,ENST00000495679,;DPPA4,downstream_gene_variant,,ENST00000487299,;	uc003dxq.3	c.912A>C	967/2817	3	3			c.912A>C						3	SNP	c.(910-912)GAA>GAC	64	64			upper_aerodigestive_tract(1)	1	Broad	developmental pluripotency associated 4			109046838		0.368	ENSG00000121570	4652	g.chr3:109046838T>G		nucleus	protein binding							324.946451	KEEP	75	60	-1	184	214	75	60	-1	354.211095	184	214	0.236443	1	0	0	0	0	1	0	0	0	--	--		0	G			DPPA4_uc011bho.1_3'UTR	149	GBM-14-1829-TP	p.E304D	T	TGATATTCTATTCCCATTGGA	NM_018189	NP_060659	109046838	Q7L190	DPPA4_HUMAN	0			7	967	-	G	G			Missense_Mutation	304						
DPPA4	0	broad.mit.edu	GRCh37	3	109046840	109046840	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2615-01	TCGA-32-2615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335658.6:c.910G>A	p.Glu304Lys	p.E304K	ENST00000335658	NM_018189.3	304	Gaa/Aaa	0			1			T	E/K	uc003dxq.3	protein_coding	YES	CCDS33814.1			910/915									upper_aerodigestive_tract(1)	1	c.(910-912)GAA>AAA			hmmpanther:PTHR16073,hmmpanther:PTHR16073:SF8	developmental pluripotency associated 4				ENSP00000335306		7-Jul									COSM3408108	7-Jul	.		ENST00000335658	Transcript				nucleus	protein binding	ENSG00000121570	g.chr3:109046840C>T	19200			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=DPPA4_HUMAN&rb=266&re=304&var=E304K	NA	getma.org/?cm=var&var=hg19,3,109046840,C,T&fts=all	E304K	--	--	1																																		DPPA4_uc011bho.1_3'UTR	1	1		benign(0.143)	p.E304K	NM_018189	NP_060659		deleterious_low_confidence(0.04)	1	DPPA4_HUMAN	DPPA4	HGNC	Q7L190	DPPA4_HUMAN			C9J7A7_HUMAN		7	965	-			UPI000022C153	304					SNV	DPPA4,missense_variant,p.Glu304Lys,ENST00000335658,NM_018189.3;DPPA4,downstream_gene_variant,,ENST00000477303,;DPPA4,non_coding_transcript_exon_variant,,ENST00000463966,;DPPA4,downstream_gene_variant,,ENST00000478791,;DPPA4,non_coding_transcript_exon_variant,,ENST00000475135,;DPPA4,downstream_gene_variant,,ENST00000495679,;DPPA4,downstream_gene_variant,,ENST00000487299,;	uc003dxq.3	c.910G>A	965/2817	1	1			c.910G>A						3	SNP	c.(910-912)GAA>AAA	16	16			upper_aerodigestive_tract(1)	1	Broad	developmental pluripotency associated 4			109046840		0.373	ENSG00000121570	4652	g.chr3:109046840C>T		nucleus	protein binding							256.395983	KEEP	57	50	-1	119	128	57	50	-1	267.486037	119	128	0.298361	1	0	0	0	0	1	0	0	0	--	--		0	T			DPPA4_uc011bho.1_3'UTR	239	GBM-32-2615-TP	p.E304K	C	ATATTCTATTCCCATTGGAGG	NM_018189	NP_060659	109046840	Q7L190	DPPA4_HUMAN	0			7	965	-	T	T			Missense_Mutation	304						
DPPA5	0	broad.mit.edu	GRCh37	6	74063914	74063914	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370370.3:c.35C>T	p.Pro12Leu	p.P12L	ENST00000370370	NM_001025290.2	12	cCg/cTg	0			1			A	P/L	uc003pgs.1	protein_coding	YES	CCDS34483.1			35/351										0	c.(34-36)CCG>CTG			hmmpanther:PTHR31368	developmental pluripotency associated 5				ENSP00000359396		3-Jan									COSM3411267	3-Jan	.		ENST00000370370	Transcript			multicellular organismal development	cytoplasm	RNA binding	ENSG00000203909	g.chr6:74063914G>A	19201			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=DPPA5_HUMAN&rb=1&re=42&var=P12L	NA	getma.org/?cm=var&var=hg19,6,74063914,G,A&fts=all	P12L	--	--	1																																			1	1		benign(0.014)	p.P12L	NM_001025290	NP_001020461		tolerated(0.21)	1	DPPA5_HUMAN	DPPA5	HGNC	A6NC42	DPPA5_HUMAN					1	40	-			UPI0000199731	12					SNV	DPPA5,missense_variant,p.Pro12Leu,ENST00000370370,NM_001025290.2;	uc003pgs.1	c.35C>T	105/679	1	1			c.35C>T						6	SNP	c.(34-36)CCG>CTG	50	50				0	Broad	developmental pluripotency associated 5			74063914		0.582	ENSG00000203909	4653	g.chr6:74063914G>A	multicellular organismal development	cytoplasm	RNA binding							145.652229	KEEP	27	23	-1	37	41	27	23	-1	146.757511	37	41	0.394737	1	0	0	0	0	1	0	0	0	--	--		0	A				249	GBM-32-5222-TP	p.P12L	G	TTTCACCCACGGCGGGATATG	NM_001025290	NP_001020461	74063914	A6NC42	DPPA5_HUMAN	0			1	40	-	A	A			Missense_Mutation	12						
DPRX	0	broad.mit.edu	GRCh37	19	54140039	54140039	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs150237904		TCGA-74-6573-01	TCGA-74-6573-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376650.1:c.373C>T	p.Arg125Ter	p.R125*	ENST00000376650	NM_001012728.1	125	Cga/Tga	0	T:0.0002		1			T	R/*	uc002qcf.1	protein_coding	YES	CCDS33103.1			373/576										0	c.(373-375)CGA>TGA			hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF299	divergent-paired related homeobox			T:0	ENSP00000365838		3-Mar	1.65E-05					3.00E-05			rs150237904,COSM3404548	3-Mar	.		ENST00000376650	Transcript				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000204595	g.chr19:54140039C>T	32166			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,19,54140039,C,T&fts=all	R125*	--	--	1																																			0,1	1			p.R125*	NM_001012728	NP_001012746			0,1	DPRX_HUMAN	DPRX	HGNC	A6NFQ7	DPRX_HUMAN		GBM - Glioblastoma multiforme(134;0.013)			3	424	+	Ovarian(34;0.19)		UPI00004ED62B	125					SNV	DPRX,stop_gained,p.Arg125Ter,ENST00000376650,NM_001012728.1;	uc002qcf.1	c.373C>T	424/648	5	2			c.373C>T						19	SNP	c.(373-375)CGA>TGA	40	40				0	Broad	divergent-paired related homeobox			54140039		0.567	ENSG00000204595	4654	g.chr19:54140039C>T		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							198.714658	KEEP	34	39	-1	34	53	34	39	-1	198.895587	34	53	0.462069	1	0	0	0	0	0	1	0	0	--	--		0	T				260	GBM-74-6573-TP	p.R125*	C	CACGGGTCATCGAGTCCCCTC	NM_001012728	NP_001012746	54140039	A6NFQ7	DPRX_HUMAN	0		GBM - Glioblastoma multiforme(134;0.013)	3	424	+	T	T	Ovarian(34;0.19)		Nonsense_Mutation	125						
DPT	1805	broad.mit.edu	GRCh37	1	168698174	168698174	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0211-01	TCGA-06-0211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367817.3:c.239C>T	p.Thr80Met	p.T80M	ENST00000367817	NM_001937.4	80	aCg/aTg	0	A:0.0002	A:0	1	A:0.0014		A	T/M	uc001gfp.2	protein_coding	YES	CCDS1275.1			239/606									ovary(1)	1	c.(238-240)ACG>ATG			Pfam_domain:PF14704,hmmpanther:PTHR15040	dermatopontin precursor		A:0	A:0.0001	ENSP00000356791	A:0	4-Jan	8.24E-05	0.000192	0.000432	0.000116		1.50E-05		6.06E-05	rs200956999,COSM239640	4-Jan	common_variant		ENST00000367817	Transcript		A:0.0002	cell adhesion	extracellular space|proteinaceous extracellular matrix		ENSG00000143196	g.chr1:168698174G>A	3011			MODERATE		1.795	low	getma.org/?cm=msa&ty=f&p=DERM_HUMAN&rb=1&re=199&var=T80M	NA	getma.org/?cm=var&var=hg19,1,168698174,G,A&fts=all	T80M	--	--	1																																			0,1	1		possibly_damaging(0.775)	p.T80M	NM_001937	NP_001928	A:0	tolerated(0.14)	0,1	DERM_HUMAN	DPT	HGNC	Q07507	DERM_HUMAN					1	255	-	all_hematologic(923;0.208)		UPI0000032C11	80			2 X 53-55 AA tandem repeats.|1-2.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].		SNV	DPT,missense_variant,p.Thr80Met,ENST00000367817,NM_001937.4;	uc001gfp.2	c.239C>T	329/1786	1	1			c.239C>T						1	SNP	c.(238-240)ACG>ATG	59	59			ovary(1)	1	Broad	dermatopontin precursor			168698174		0.607	ENSG00000143196	4655	g.chr1:168698174G>A	cell adhesion	extracellular space|proteinaceous extracellular matrix								304.21412	KEEP	59	69	-1	64	84	59	69	-1	304.761923	64	84	0.448276	1	0	0	0	0	1	0	0	0	--	--		0	A				48	GBM-06-0211-TP	p.T80M	G	GCTCTGTGGCGTGGGCATGCA	NM_001937	NP_001928	168698174	Q07507	DERM_HUMAN	0			1	255	-	A	A	all_hematologic(923;0.208)		Missense_Mutation	80			2 X 53-55 AA tandem repeats.|1-2.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].			
DPT	1805	broad.mit.edu	GRCh37	1	168670256	168670256	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0876-01	TCGA-06-0876-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367817.3:c.538A>T	p.Arg180Trp	p.R180W	ENST00000367817	NM_001937.4	180	Agg/Tgg	0			1			A	R/W	uc001gfp.2	protein_coding	YES	CCDS1275.1			538/606									ovary(1)	1	c.(538-540)AGG>TGG			Pfam_domain:PF14704,hmmpanther:PTHR15040	dermatopontin precursor				ENSP00000356791		4-Mar									COSM2152107	4-Mar	.		ENST00000367817	Transcript			cell adhesion	extracellular space|proteinaceous extracellular matrix		ENSG00000143196	g.chr1:168670256T>A	3011			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=DERM_HUMAN&rb=1&re=199&var=R180W	NA	getma.org/?cm=var&var=hg19,1,168670256,T,A&fts=all	R180W	--	--	1																																			1	1		probably_damaging(0.987)	p.R180W	NM_001937	NP_001928		deleterious(0)	1	DERM_HUMAN	DPT	HGNC	Q07507	DERM_HUMAN					3	554	-	all_hematologic(923;0.208)		UPI0000032C11	180			2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].		SNV	DPT,missense_variant,p.Arg180Trp,ENST00000367817,NM_001937.4;	uc001gfp.2	c.538A>T	628/1786	1	1			c.538A>T						1	SNP	c.(538-540)AGG>TGG	49	49			ovary(1)	1	Broad	dermatopontin precursor			168670256		0.408	ENSG00000143196	4655	g.chr1:168670256T>A	cell adhesion	extracellular space|proteinaceous extracellular matrix								201.813325	KEEP	44	32	-1	85	45	44	32	-1	204.53921	85	45	0.370968	1	0	0	0	0	1	0	0	0	--	--		0	A				72	GBM-06-0876-TP	p.R180W	T	CTTTCTCACCTTTCCACTGCA	NM_001937	NP_001928	168670256	Q07507	DERM_HUMAN	0			3	554	-	A	A	all_hematologic(923;0.208)		Missense_Mutation	180			2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].			
DPY19L4	0	broad.mit.edu	GRCh37	8	95792643	95792643	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000414645.2:c.1632G>A	p.Glu544=	p.E544=	ENST00000414645	NM_181787.2	544	gaG/gaA	0			1			A	E	uc003ygx.2	protein_coding	YES	CCDS34924.1			1632/2172									ovary(2)	2	c.(1630-1632)GAG>GAA			hmmpanther:PTHR31488:SF2,hmmpanther:PTHR31488,Pfam_domain:PF10034	dpy-19-like 4				ENSP00000389630		15/19	8.25E-06					1.69E-05			rs750310153,COSM3413175	15/19	.		ENST00000414645	Transcript				integral to membrane		ENSG00000156162	g.chr8:95792643G>A	27829			LOW								--	--	1																																			0,1	1			p.E544E	NM_181787	NP_861452			0,1	D19L4_HUMAN	DPY19L4	HGNC	Q7Z388	D19L4_HUMAN					15	1756	+	Breast(36;3.85e-06)		UPI00001A9D7A	544					SNV	DPY19L4,splice_region_variant,p.=,ENST00000414645,NM_181787.2;DPY19L4,splice_region_variant,p.=,ENST00000522669,;	uc003ygx.2	c.1632G>A	1731/6197	1	1			c.1632G>A						8	SNP	c.(1630-1632)GAG>GAA	57	57			ovary(2)	2	Broad	dpy-19-like 4			95792643		0.294	ENSG00000156162	4659	g.chr8:95792643G>A		integral to membrane								80.230515	KEEP	14	10	-1	13	5	14	10	-1	80.426522	13	5	0.575	1	0	0	0	0	0	0	1	0	--	--		0	A				177	GBM-19-5959-TP	p.E544E	G	TATGGAAAGAGGtaaaaaaat	NM_181787	NP_861452	95792643	Q7Z388	D19L4_HUMAN	0			15	1756	+	A	A	Breast(36;3.85e-06)		Silent	544						
DPYD	0	broad.mit.edu	GRCh37	1	98293688	98293688	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-28-5214-01	TCGA-28-5214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370192.3:c.215C>G	p.Ala72Gly	p.A72G	ENST00000370192	NM_000110.3	72	gCt/gGt	0			1			C	A/G	uc001drv.2	protein_coding	YES	CCDS30777.1			215/3078									ovary(3)|skin(3)|breast(2)	8	c.(214-216)GCT>GGT			Gene3D:1.10.1060.10,Pfam_domain:PF14691,PROSITE_profiles:PS51379,hmmpanther:PTHR11938,hmmpanther:PTHR11938:SF5,Superfamily_domains:SSF46548	dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)			ENSP00000359211		23-Mar									COSM3401107,COSM3401106	23-Mar	.		ENST00000370192	Transcript	1		'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	ENSG00000188641	g.chr1:98293688G>C	3012			MODERATE		3.29	medium	getma.org/?cm=msa&ty=f&p=DPYD_HUMAN&rb=69&re=100&var=A72G	getma.org/pdb.php?prot=DPYD_HUMAN&from=69&to=100&var=A72G	getma.org/?cm=var&var=hg19,1,98293688,G,C&fts=all	A72G	--	--	1																																		DPYD_uc010oub.1_RNA|DPYD_uc001drw.2_Missense_Mutation_p.A72G	1,1	1		probably_damaging(0.999)	p.A72G	NM_000110	NP_000101		deleterious(0)	1,1	DPYD_HUMAN	DPYD	HGNC	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)			3	352	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	UPI0000458949	72			4Fe-4S ferredoxin-type 1.		SNV	DPYD,missense_variant,p.Ala72Gly,ENST00000370192,NM_000110.3;DPYD,missense_variant,p.Ala72Gly,ENST00000306031,NM_001160301.1;DPYD,missense_variant,p.Ala35Gly,ENST00000423006,;	uc001drv.2	c.215C>G	316/4412	3	3			c.215C>G						1	SNP	c.(214-216)GCT>GGT	56	56			ovary(3)|skin(3)|breast(2)	8	Broad	dihydropyrimidine dehydrogenase isoform 1		Capecitabine(DB01101)|Enfuvirtide(DB00109)	98293688		0.393	ENSG00000188641	4661	g.chr1:98293688G>C	'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			533			533	-20.455025	KEEP	3	4	-1	66	88	3	4	-1	9.968017	66	88	0.038168	1	0	0	0	0	1	0	0	0	--	--		0	C			DPYD_uc010oub.1_RNA|DPYD_uc001drw.2_Missense_Mutation_p.A72G	221	GBM-28-5214-TP	p.A72G	G	TTCTCGGAGAGCTCCTCGCTC	NM_000110	NP_000101	98293688	Q12882	DPYD_HUMAN	0		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	3	352	-	C	C		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	Missense_Mutation	72			4Fe-4S ferredoxin-type 1.			
DPYD	0	broad.mit.edu	GRCh37	1	97847978	97847978	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-4925-01	TCGA-76-4925-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370192.3:c.1945G>T	p.Asp649Tyr	p.D649Y	ENST00000370192	NM_000110.3	649	Gac/Tac	0			1			A	D/Y	uc001drv.2	protein_coding	YES	CCDS30777.1			1945/3078									ovary(3)|skin(3)|breast(2)	8	c.(1945-1947)GAC>TAC			Gene3D:3.20.20.70,Pfam_domain:PF01180,hmmpanther:PTHR11938,hmmpanther:PTHR11938:SF5,Superfamily_domains:SSF51395,TIGRFAM_domain:TIGR01037	dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)			ENSP00000359211		15/23									COSM2157465	15/23	.		ENST00000370192	Transcript	1		'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	ENSG00000188641	g.chr1:97847978C>A	3012			MODERATE		3.87	high	getma.org/?cm=msa&ty=f&p=DPYD_HUMAN&rb=532&re=838&var=D649Y	getma.org/pdb.php?prot=DPYD_HUMAN&from=532&to=838&var=D649Y	getma.org/?cm=var&var=hg19,1,97847978,C,A&fts=all	D649Y	--	--	1																																			1	1		probably_damaging(0.995)	p.D649Y	NM_000110	NP_000101		deleterious(0)	1	DPYD_HUMAN	DPYD	HGNC	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)			15	2082	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	UPI0000458949	649					SNV	DPYD,missense_variant,p.Asp649Tyr,ENST00000370192,NM_000110.3;	uc001drv.2	c.1945G>T	2046/4412	1	1			c.1945G>T						1	SNP	c.(1945-1947)GAC>TAC	51	51			ovary(3)|skin(3)|breast(2)	8	Broad	dihydropyrimidine dehydrogenase isoform 1		Capecitabine(DB01101)|Enfuvirtide(DB00109)	97847978		0.279	ENSG00000188641	4661	g.chr1:97847978C>A	'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity		p.D649N(MDAMB453-Tumor)	533		p.D649N(MDAMB453-Tumor)	533	30.413268	KEEP	9	4	0.307692308	14	15	9	4	0.307692308	31.104304	14	15	0.34375	1	0	0	0	0	1	0	0	0	--	--		0	A				265	GBM-76-4925-TP	p.D649Y	C	TCCGTCCAGTCATTTTTATTG	NM_000110	NP_000101	97847978	Q12882	DPYD_HUMAN	0		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	15	2082	-	A	A		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	Missense_Mutation	649						
DPYSL2	0	broad.mit.edu	GRCh37	8	26510765	26510765	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1977-01	TCGA-32-1977-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311151.5:c.1479G>A	p.Gly493=	p.G493=	ENST00000311151	NM_001386.5	493	ggG/ggA	0			1			A	G	uc003xfb.1	protein_coding	YES	CCDS6051.1			1479/1719									large_intestine(1)	1	c.(1477-1479)GGG>GGA			hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF56	dihydropyrimidinase-like 2				ENSP00000309539		13/14									COSM3412953	13/14	.		ENST00000311151	Transcript			axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	ENSG00000092964	g.chr8:26510765G>A	3014			LOW								--	--	1																																		DPYSL2_uc003xfa.2_Silent_p.G598G|DPYSL2_uc010luk.1_RNA|DPYSL2_uc011lah.1_Silent_p.G457G	1	1			p.G493G	NM_001386	NP_001377			1	DPYL2_HUMAN	DPYSL2	HGNC	Q16555	DPYL2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)	Q8NAN9_HUMAN,A9CQZ2_HUMAN		13	1829	+		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)	UPI0000129864	493					SNV	DPYSL2,synonymous_variant,p.=,ENST00000311151,NM_001386.5;DPYSL2,synonymous_variant,p.=,ENST00000521913,NM_001197293.2;DPYSL2,synonymous_variant,p.=,ENST00000523027,NM_001244604.1;	uc003xfb.1	c.1479G>A	1891/4603	2	2			c.1479G>A						8	SNP	c.(1477-1479)GGG>GGA	46	46			large_intestine(1)	1	Broad	dihydropyrimidinase-like 2			26510765		0.602	ENSG00000092964	4663	g.chr8:26510765G>A	axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding							214.832511	KEEP	54	53	-1	180	187	54	53	-1	243.969898	180	187	0.22113	1	0	0	0	0	0	0	1	0	--	--		0	A			DPYSL2_uc003xfa.2_Silent_p.G598G|DPYSL2_uc010luk.1_RNA|DPYSL2_uc011lah.1_Silent_p.G457G	229	GBM-32-1977-TP	p.G493G	G	AGCTGAGAGGGGTTCCTCGTG	NM_001386	NP_001377	26510765	Q16555	DPYL2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)	13	1829	+	A	A		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)	Silent	493						
DPYSL2	0	broad.mit.edu	GRCh37	8	26492400	26492400	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-32-2494-01	TCGA-32-2494-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311151.5:c.795C>A	p.Ala265=	p.A265=	ENST00000311151	NM_001386.5	265	gcC/gcA	0			1			A	A	uc003xfb.1	protein_coding	YES	CCDS6051.1			795/1719									large_intestine(1)	1	c.(793-795)GCC>GCA			Gene3D:3.20.20.140,Pfam_domain:PF01979,hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF56,Superfamily_domains:SSF51556,TIGRFAM_domain:TIGR02033	dihydropyrimidinase-like 2				ENSP00000309539		14-Aug									COSM3412952	14-Aug	.		ENST00000311151	Transcript			axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	ENSG00000092964	g.chr8:26492400C>A	3014			LOW								--	--	1																																		DPYSL2_uc003xfa.2_Silent_p.A370A|DPYSL2_uc011lag.1_Silent_p.A265A|DPYSL2_uc010luk.1_RNA|DPYSL2_uc011lah.1_Silent_p.A229A	1	1			p.A265A	NM_001386	NP_001377			1	DPYL2_HUMAN	DPYSL2	HGNC	Q16555	DPYL2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)	Q8NAN9_HUMAN,A9CQZ2_HUMAN		8	1145	+		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)	UPI0000129864	265					SNV	DPYSL2,synonymous_variant,p.=,ENST00000311151,NM_001386.5;DPYSL2,synonymous_variant,p.=,ENST00000521913,NM_001197293.2;DPYSL2,synonymous_variant,p.=,ENST00000523027,NM_001244604.1;DPYSL2,non_coding_transcript_exon_variant,,ENST00000521983,;DPYSL2,upstream_gene_variant,,ENST00000474808,;DPYSL2,downstream_gene_variant,,ENST00000523093,;	uc003xfb.1	c.795C>A	1207/4603	2	2			c.795C>A						8	SNP	c.(793-795)GCC>GCA	44	44			large_intestine(1)	1	Broad	dihydropyrimidinase-like 2			26492400		0.607	ENSG00000092964	4663	g.chr8:26492400C>A	axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding							-9.281887	KEEP	2	1	0.333333333	33	42	2	1	0.333333333	6.361487	33	42	0.042857	1	0	0	0	0	0	0	1	0	--	--		0	A			DPYSL2_uc003xfa.2_Silent_p.A370A|DPYSL2_uc011lag.1_Silent_p.A265A|DPYSL2_uc010luk.1_RNA|DPYSL2_uc011lah.1_Silent_p.A229A	236	GBM-32-2494-TP	p.A265A	C	AGGTCATCGCCCAGGCACGGA	NM_001386	NP_001377	26492400	Q16555	DPYL2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)	8	1145	+	A	A		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)	Silent	265						
DPYSL5	0	broad.mit.edu	GRCh37	2	27165614	27165616	+	inframe_deletion,splice_region_variant	In_Frame_Del	DEL	AGA	AGA	-			TCGA-19-2629-01	TCGA-19-2629-01	AGA	AGA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288699.6:c.1438_1440delAAG	p.Lys480del	p.K480del	ENST00000288699	NM_001253724.1	479	gAGAag/gag	0			1			-	EK/E	uc002rhu.3	protein_coding	YES	CCDS1730.1			1436-1438/1695									ovary(2)	2	c.(1435-1440)GAGAAG>GAG			Gene3D:2.30.40.10,hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF58,Superfamily_domains:SSF51338	dihydropyrimidinase-like 5				ENSP00000288699		13-Nov	4.12E-05			0.000581					rs772460158,COSM2156323	13-Nov	common_variant		ENST00000288699	Transcript			axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	ENSG00000157851	g.chr2:27165614_27165616delAGA	20637	2		MODERATE								--	--	1																																OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	DPYSL5_uc002rhv.3_In_Frame_Del_p.K480del	0,1	1			p.K480del	NM_020134	NP_064519			0,1	DPYL5_HUMAN	DPYSL5	HGNC	Q9BPU6	DPYL5_HUMAN			Q53T73_HUMAN,Q53SW3_HUMAN,E9PHT0_HUMAN,E7EWB4_HUMAN,E7ESV0_HUMAN		11	1594_1596	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		UPI00000411CF	480					deletion	DPYSL5,inframe_deletion,p.Lys480del,ENST00000288699,NM_001253724.1,NM_020134.3;DPYSL5,inframe_deletion,p.Lys480del,ENST00000401478,NM_001253723.1;DPYSL5,splice_region_variant,,ENST00000484882,;	uc002rhu.3	c.1436_1438delAGA	1594-1596/5209	5	5			c.1436_1438delAGA						2	DEL	c.(1435-1440)GAGAAG>GAG	63	63			ovary(2)	2	Broad	dihydropyrimidinase-like 5			27165616		0.557	ENSG00000157851	4666	g.chr2:27165614_27165616delAGA	axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides																				0.25	1	1	0	1	0	0	0	0	0	--	--		0	-	OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	DPYSL5_uc002rhv.3_In_Frame_Del_p.K480del	166	GBM-19-2629-TP	p.K480del	AGA	GTCCAGAGAGAGAAGGTGAGGTG	NM_020134	NP_064519	27165614	Q9BPU6	DPYL5_HUMAN	0			11	1594_1596	+	-	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		In_Frame_Del	480						
DRC1	0	broad.mit.edu	GRCh37	2	26637295	26637295	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs148643291	by1000genomes	TCGA-74-6573-01	TCGA-74-6573-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288710.2:c.239G>A	p.Arg80Gln	p.R80Q	ENST00000288710	NM_145038.2	80	cGa/cAa	0	A:0	A:0	1	A:0		A	R/Q	uc002rhg.2	protein_coding	YES	CCDS1723.1			239/2223										0	c.(238-240)CGA>CAA			hmmpanther:PTHR21625,hmmpanther:PTHR21625:SF1	hypothetical protein LOC92749		A:0	A:0.0001	ENSP00000288710	A:0.001	17-Feb	2.47E-05					4.54E-05			rs148643291,COSM3407779	17-Feb	.		ENST00000288710	Transcript	1	A:0.0002				ENSG00000157856	g.chr2:26637295G>A	24245			MODERATE		2.005	medium	getma.org/?cm=msa&ty=f&p=CC164_HUMAN&rb=1&re=112&var=R80Q	NA	getma.org/?cm=var&var=hg19,2,26637295,G,A&fts=all	R80Q	--	--	1																																		C2orf39_uc010eym.1_RNA	0,1	1		possibly_damaging(0.527)	p.R80Q	NM_145038	NP_659475	A:0	deleterious(0.01)	0,1	DRC1_HUMAN	DRC1	HGNC	Q96MC2	CC164_HUMAN					2	313	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		UPI000013DF36	80					SNV	DRC1,missense_variant,p.Arg80Gln,ENST00000288710,NM_145038.2;DRC1,missense_variant,p.Arg80Gln,ENST00000421869,;	uc002rhg.2	c.239G>A	313/2491	2	2			c.239G>A						2	SNP	c.(238-240)CGA>CAA	44	44				0	Broad	hypothetical protein LOC92749			26637295		0.448	ENSG00000157856	2120	g.chr2:26637295G>A										33.353521	KEEP	7	6	-1	18	16	7	6	-1	35.307857	18	16	0.282609	1	0	0	0	0	1	0	0	0	--	--		0	A			C2orf39_uc010eym.1_RNA	260	GBM-74-6573-TP	p.R80Q	G	GAAGAAAGCCGATTGGTATGA	NM_145038	NP_659475	26637295	Q96MC2	CC164_HUMAN	0			2	313	+	A	A	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Missense_Mutation	80						
DRD1	0	broad.mit.edu	GRCh37	5	174869392	174869392	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393752.2:c.711C>T	p.His237=	p.H237=	ENST00000393752	NM_000794.3	237	caC/caT	0			1			A	H	uc003mcz.2	protein_coding	YES	CCDS4393.1			711/1341									ovary(2)|skin(1)	3	c.(709-711)CAC>CAT			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00565,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF221	dopamine receptor D1	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)			ENSP00000377353		2-Feb	8.24E-06		8.64E-05						rs777655360,COSM3410150	2-Feb	.		ENST00000393752	Transcript			activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	ENSG00000184845	g.chr5:174869392G>A	3020			LOW								--	--	1																																			0,1	1			p.H237H	NM_000794	NP_000785			0,1	DRD1_HUMAN	DRD1	HGNC	P21728	DRD1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)				2	1656	-	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	UPI00000503F5	237			Cytoplasmic (Potential).		SNV	DRD1,synonymous_variant,p.=,ENST00000393752,NM_000794.3;	uc003mcz.2	c.711C>T	1704/4054	2	2			c.711C>T						5	SNP	c.(709-711)CAC>CAT	24	24			ovary(2)|skin(1)	3	Broad	dopamine receptor D1		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	174869392		0.483	ENSG00000184845	4672	g.chr5:174869392G>A	activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding							107.505629	KEEP	20	18	-1	23	31	20	18	-1	108.064035	23	31	0.413793	1	0	0	0	0	0	0	1	0	--	--		0	A				177	GBM-19-5959-TP	p.H237H	G	AATTCTTGGCGTGGACTGCTG	NM_000794	NP_000785	174869392	P21728	DRD1_HUMAN	0	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	1656	-	A	A	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Silent	237			Cytoplasmic (Potential).			
DRD2	1813		GRCh37	11	113286210	113286210	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000362072.3:c.656G>A	p.Arg219His	p.R219H	ENST00000362072	NM_000795.3	219	cGc/cAc	0																																																																																																																																																																																																																																												
DRD3	0	broad.mit.edu	GRCh37	3	113847759	113847759	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0871-01	TCGA-14-0871-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000460779.1:c.1007G>A	p.Gly336Glu	p.G336E	ENST00000460779	NM_001282563.1	336	gGg/gAg	0			1			T	G/E	uc003ebd.2	protein_coding		CCDS2978.1			1007/1203									ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4	c.(1006-1008)GGG>GAG			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF38,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	dopamine receptor D3 isoform a	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)			ENSP00000419402		8-Aug									COSM3408147	8-Aug	.		ENST00000460779	Transcript	1		activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	ENSG00000151577	g.chr3:113847759C>T	3024			MODERATE		4.36	high	getma.org/?cm=msa&ty=f&p=DRD3_HUMAN&rb=46&re=383&var=G336E	getma.org/pdb.php?prot=DRD3_HUMAN&from=46&to=383&var=G336E	getma.org/?cm=var&var=hg19,3,113847759,C,T&fts=all	G336E	--	--	1																																		DRD3_uc010hqn.1_Missense_Mutation_p.G336E|DRD3_uc003ebb.1_Missense_Mutation_p.G303E|DRD3_uc003ebc.1_Missense_Mutation_p.G336E	1			probably_damaging(0.996)	p.G336E	NM_000796	NP_000787		deleterious(0)	1	DRD3_HUMAN	DRD3	HGNC	P35462	DRD3_HUMAN					8	1430	-			UPI000013E2C2	336			Helical; Name=6.		SNV	DRD3,missense_variant,p.Gly336Glu,ENST00000383673,NM_000796.3;DRD3,missense_variant,p.Gly336Glu,ENST00000460779,NM_001282563.1;DRD3,missense_variant,p.Gly336Glu,ENST00000467632,;DRD3,missense_variant,p.Gly303Glu,ENST00000295881,NM_033663.3;	uc003ebd.2	c.1007G>A	1297/1557	1	1			c.1007G>A						3	SNP	c.(1006-1008)GGG>GAG	13	13			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4	Broad	dopamine receptor D3 isoform a		Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	113847759		0.428	ENSG00000151577	4674	g.chr3:113847759C>T	activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding							263.683545	KEEP	59	43	-1	62	39	59	43	-1	263.687309	62	39	0.494048	1	0	0	0	0	1	0	0	0	--	--		0	T			DRD3_uc010hqn.1_Missense_Mutation_p.G336E|DRD3_uc003ebb.1_Missense_Mutation_p.G303E|DRD3_uc003ebc.1_Missense_Mutation_p.G336E	141	GBM-14-0871-TP	p.G336E	C	AATGAAGGCCCCTAAGTTGCC	NM_000796	NP_000787	113847759	P35462	DRD3_HUMAN	0			8	1430	-	T	T			Missense_Mutation	336			Helical; Name=6.			
DRD5	1816	broad.mit.edu	GRCh37	4	9784937	9784937	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0216-01	TCGA-06-0216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304374.2:c.1284C>T	p.Asp428=	p.D428=	ENST00000304374	NM_000798.4	428	gaC/gaT	0			1			T	D	uc003gmb.3	protein_coding	YES	CCDS3405.1			1284/1434									skin(1)	1	c.(1282-1284)GAC>GAT				dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)			ENSP00000306129		1-Jan									rs201092734,COSM1059126	1-Jan	.		ENST00000304374	Transcript	1		activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		ENSG00000169676	g.chr4:9784937C>T	3026			LOW								--	--	1																																			0,1	1			p.D428D	NM_000798	NP_000789			0,1	DRD5_HUMAN	DRD5	HGNC	P21918	DRD5_HUMAN					1	1680	+			UPI000004E905	428			Cytoplasmic (Potential).		SNV	DRD5,synonymous_variant,p.=,ENST00000304374,NM_000798.4;SLC2A9,intron_variant,,ENST00000503803,;SLC2A9,intron_variant,,ENST00000508585,;	uc003gmb.3	c.1284C>T	1680/2375	2	2			c.1284C>T						4	SNP	c.(1282-1284)GAC>GAT	43	43			skin(1)	1	Broad	dopamine receptor D5		Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	9784937		0.582	ENSG00000169676	4676	g.chr4:9784937C>T	activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane								177.251169	KEEP	37	22	-1	29	29	37	22	-1	177.322251	29	29	0.527273	1	0	0	0	0	0	0	1	0	--	--		0	T				51	GBM-06-0216-TP	p.D428D	C	TGGACAACGACGAGGAGGAGG	NM_000798	NP_000789	9784937	P21918	DRD5_HUMAN	0			1	1680	+	T	T			Silent	428			Cytoplasmic (Potential).			
DRD5	0	broad.mit.edu	GRCh37	4	9784657	9784657	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-12-0821-01	TCGA-12-0821-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304374.2:c.1004G>T	p.Cys335Phe	p.C335F	ENST00000304374	NM_000798.4	335	tGc/tTc	0			1			T	C/F	uc003gmb.3	protein_coding	YES	CCDS3405.1			1004/1434									skin(1)	1	c.(1003-1005)TGC>TTC			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00566,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF218,Superfamily_domains:SSF81321	dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)			ENSP00000306129		1-Jan									COSM3409638	1-Jan	.		ENST00000304374	Transcript	1		activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		ENSG00000169676	g.chr4:9784657G>T	3026			MODERATE		2.47	medium	getma.org/?cm=msa&ty=f&p=DRD5_HUMAN&rb=57&re=359&var=C335F	getma.org/pdb.php?prot=DRD5_HUMAN&from=57&to=359&var=C335F	getma.org/?cm=var&var=hg19,4,9784657,G,T&fts=all	C335F	--	--	1																																			1	1		probably_damaging(1)	p.C335F	NM_000798	NP_000789		deleterious(0)	1	DRD5_HUMAN	DRD5	HGNC	P21918	DRD5_HUMAN					1	1400	+			UPI000004E905	335			Extracellular (Potential).		SNV	DRD5,missense_variant,p.Cys335Phe,ENST00000304374,NM_000798.4;SLC2A9,intron_variant,,ENST00000503803,;SLC2A9,intron_variant,,ENST00000508585,;	uc003gmb.3	c.1004G>T	1400/2375	2	2			c.1004G>T						4	SNP	c.(1003-1005)TGC>TTC	26	26			skin(1)	1	Broad	dopamine receptor D5		Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	9784657		0.587	ENSG00000169676	4676	g.chr4:9784657G>T	activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane								329.998314	KEEP	94	40	0.701492537	169	70	94	40	0.701492537	335.223218	169	70	0.363636	1	0	0	0	0	1	0	0	0	--	--		0	T				123	GBM-12-0821-TP	p.C335F	G	GGCTTCCCCTGCGTCAGTGAG	NM_000798	NP_000789	9784657	P21918	DRD5_HUMAN	0			1	1400	+	T	T			Missense_Mutation	335			Extracellular (Potential).			
DRD5	0	broad.mit.edu	GRCh37	4	9783859	9783859	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304374.2:c.206G>A	p.Arg69His	p.R69H	ENST00000304374	NM_000798.4	69	cGc/cAc	0			1			A	R/H	uc003gmb.3	protein_coding	YES	CCDS3405.1			206/1434									skin(1)	1	c.(205-207)CGC>CAC			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00242,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF218,Superfamily_domains:SSF81321	dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)			ENSP00000306129		1-Jan									COSM3409636	1-Jan	.		ENST00000304374	Transcript	1		activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		ENSG00000169676	g.chr4:9783859G>A	3026			MODERATE		3.15	medium	getma.org/?cm=msa&ty=f&p=DRD5_HUMAN&rb=57&re=359&var=R69H	getma.org/pdb.php?prot=DRD5_HUMAN&from=57&to=359&var=R69H	getma.org/?cm=var&var=hg19,4,9783859,G,A&fts=all	R69H	--	--	1																																			1	1		probably_damaging(0.989)	p.R69H	NM_000798	NP_000789		deleterious(0.01)	1	DRD5_HUMAN	DRD5	HGNC	P21918	DRD5_HUMAN					1	602	+			UPI000004E905	69			Cytoplasmic (Potential).		SNV	DRD5,missense_variant,p.Arg69His,ENST00000304374,NM_000798.4;SLC2A9,intron_variant,,ENST00000503803,;SLC2A9,intron_variant,,ENST00000508585,;	uc003gmb.3	c.206G>A	602/2375	1	1			c.206G>A						4	SNP	c.(205-207)CGC>CAC	52	52			skin(1)	1	Broad	dopamine receptor D5		Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	9783859		0.647	ENSG00000169676	4676	g.chr4:9783859G>A	activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane								19.450226	KEEP	4	5	-1	18	30	4	5	-1	23.837248	18	30	0.1875	1	0	0	0	0	1	0	0	0	--	--		0	A				129	GBM-12-5295-TP	p.R69H	G	GTGCGGAGCCGCCACCTGCGC	NM_000798	NP_000789	9783859	P21918	DRD5_HUMAN	0			1	602	+	A	A			Missense_Mutation	69			Cytoplasmic (Potential).			
DRD5	0	broad.mit.edu	GRCh37	4	9784506	9784506	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304374.2:c.853C>T	p.Arg285Cys	p.R285C	ENST00000304374	NM_000798.4	285	Cgc/Tgc	0			1			T	R/C	uc003gmb.3	protein_coding	YES	CCDS3405.1			853/1434									skin(1)	1	c.(853-855)CGC>TGC			Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF218,Superfamily_domains:SSF81321	dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)			ENSP00000306129		1-Jan	8.24E-06							6.09E-05	rs754629025,COSM2154742	1-Jan	.		ENST00000304374	Transcript	1		activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		ENSG00000169676	g.chr4:9784506C>T	3026			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=DRD5_HUMAN&rb=57&re=359&var=R285C	getma.org/pdb.php?prot=DRD5_HUMAN&from=57&to=359&var=R285C	getma.org/?cm=var&var=hg19,4,9784506,C,T&fts=all	R285C	--	--	1																																			0,1	1		probably_damaging(0.954)	p.R285C	NM_000798	NP_000789		deleterious(0)	0,1	DRD5_HUMAN	DRD5	HGNC	P21918	DRD5_HUMAN					1	1249	+			UPI000004E905	285			Cytoplasmic (Potential).		SNV	DRD5,missense_variant,p.Arg285Cys,ENST00000304374,NM_000798.4;SLC2A9,intron_variant,,ENST00000503803,;SLC2A9,intron_variant,,ENST00000508585,;	uc003gmb.3	c.853C>T	1249/2375	2	2			c.853C>T						4	SNP	c.(853-855)CGC>TGC	24	24			skin(1)	1	Broad	dopamine receptor D5		Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	9784506		0.627	ENSG00000169676	4676	g.chr4:9784506C>T	activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane								129.059554	KEEP	25	35	-1	75	54	25	35	-1	133.107848	75	54	0.324324	1	0	0	0	0	1	0	0	0	--	--		0	T				138	GBM-14-0813-TP	p.R285C	C	CACCAGCCTGCGCGCTTCCAT	NM_000798	NP_000789	9784506	P21918	DRD5_HUMAN	0			1	1249	+	T	T			Missense_Mutation	285			Cytoplasmic (Potential).			
DRD5	0	broad.mit.edu	GRCh37	4	9784083	9784083	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-32-1991-01	TCGA-32-1991-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304374.2:c.430A>T	p.Arg144Trp	p.R144W	ENST00000304374	NM_000798.4	144	Agg/Tgg	0			1			T	R/W	uc003gmb.3	protein_coding	YES	CCDS3405.1			430/1434									skin(1)	1	c.(430-432)AGG>TGG			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00242,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF218,Superfamily_domains:SSF81321	dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)			ENSP00000306129		1-Jan									COSM3409637	1-Jan	.		ENST00000304374	Transcript	1		activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		ENSG00000169676	g.chr4:9784083A>T	3026			MODERATE		1.835	low	getma.org/?cm=msa&ty=f&p=DRD5_HUMAN&rb=57&re=359&var=R144W	getma.org/pdb.php?prot=DRD5_HUMAN&from=57&to=359&var=R144W	getma.org/?cm=var&var=hg19,4,9784083,A,T&fts=all	R144W	--	--	1																																			1	1		benign(0.021)	p.R144W	NM_000798	NP_000789		deleterious(0.01)	1	DRD5_HUMAN	DRD5	HGNC	P21918	DRD5_HUMAN					1	826	+			UPI000004E905	144			Cytoplasmic (Potential).		SNV	DRD5,missense_variant,p.Arg144Trp,ENST00000304374,NM_000798.4;SLC2A9,intron_variant,,ENST00000503803,;SLC2A9,intron_variant,,ENST00000508585,;	uc003gmb.3	c.430A>T	826/2375	2	2			c.430A>T						4	SNP	c.(430-432)AGG>TGG	41	41			skin(1)	1	Broad	dopamine receptor D5		Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	9784083		0.597	ENSG00000169676	4676	g.chr4:9784083A>T	activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane								89.060393	KEEP	15	17	-1	26	24	15	17	-1	89.580626	26	24	0.408451	1	0	0	0	0	1	0	0	0	--	--		0	T				234	GBM-32-1991-TP	p.R144W	A	GGCCATCTCCAGGCCCTTCCG	NM_000798	NP_000789	9784083	P21918	DRD5_HUMAN	0			1	826	+	T	T			Missense_Mutation	144			Cytoplasmic (Potential).			
DRD5	0	broad.mit.edu	GRCh37	4	9784905	9784905	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304374.2:c.1252G>A	p.Val418Ile	p.V418I	ENST00000304374	NM_000798.4	418	Gtt/Att	0			1			A	V/I	uc003gmb.3	protein_coding	YES	CCDS3405.1			1252/1434									skin(1)	1	c.(1252-1254)GTT>ATT			Prints_domain:PR00566	dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)			ENSP00000306129		1-Jan	0.000132					1.50E-05		0.000908	rs760258996,COSM1059125	1-Jan	common_variant		ENST00000304374	Transcript	1		activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		ENSG00000169676	g.chr4:9784905G>A	3026			MODERATE		1.12	low	getma.org/?cm=msa&ty=f&p=DRD5_HUMAN&rb=360&re=477&var=V418I	NA	getma.org/?cm=var&var=hg19,4,9784905,G,A&fts=all	V418I	--	--	1																																			0,1	1		benign(0.06)	p.V418I	NM_000798	NP_000789		tolerated(0.3)	0,1	DRD5_HUMAN	DRD5	HGNC	P21918	DRD5_HUMAN					1	1648	+			UPI000004E905	418			Cytoplasmic (Potential).		SNV	DRD5,missense_variant,p.Val418Ile,ENST00000304374,NM_000798.4;SLC2A9,intron_variant,,ENST00000503803,;SLC2A9,intron_variant,,ENST00000508585,;	uc003gmb.3	c.1252G>A	1648/2375	2	2			c.1252G>A						4	SNP	c.(1252-1254)GTT>ATT	20	20			skin(1)	1	Broad	dopamine receptor D5		Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	9784905		0.557	ENSG00000169676	4676	g.chr4:9784905G>A	activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane								93.477291	KEEP	15	26	-1	43	68	15	26	-1	98.756313	43	68	0.282258	1	0	0	0	0	1	0	0	0	--	--		0	A				235	GBM-32-2491-TP	p.V418I	G	GCCCAACGCCGTTACCCCCGG	NM_000798	NP_000789	9784905	P21918	DRD5_HUMAN	0			1	1648	+	A	A			Missense_Mutation	418			Cytoplasmic (Potential).			
DRD5	0	broad.mit.edu	GRCh37	4	9784960	9784960	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01	TCGA-32-2495-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304374.2:c.1307G>A	p.Arg436His	p.R436H	ENST00000304374	NM_000798.4	436	cGc/cAc	0			1			A	R/H	uc003gmb.3	protein_coding	YES	CCDS3405.1			1307/1434									skin(1)	1	c.(1306-1308)CGC>CAC				dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)			ENSP00000306129		1-Jan									COSM3409639	1-Jan	.		ENST00000304374	Transcript	1		activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		ENSG00000169676	g.chr4:9784960G>A	3026			MODERATE		1.155	low	getma.org/?cm=msa&ty=f&p=DRD5_HUMAN&rb=360&re=477&var=R436H	NA	getma.org/?cm=var&var=hg19,4,9784960,G,A&fts=all	R436H	--	--	1																																			1	1		benign(0.009)	p.R436H	NM_000798	NP_000789		tolerated(0.16)	1	DRD5_HUMAN	DRD5	HGNC	P21918	DRD5_HUMAN					1	1703	+			UPI000004E905	436			Cytoplasmic (Potential).		SNV	DRD5,missense_variant,p.Arg436His,ENST00000304374,NM_000798.4;SLC2A9,intron_variant,,ENST00000503803,;SLC2A9,intron_variant,,ENST00000508585,;	uc003gmb.3	c.1307G>A	1703/2375	2	2			c.1307G>A						4	SNP	c.(1306-1308)CGC>CAC	33	33			skin(1)	1	Broad	dopamine receptor D5		Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	9784960		0.552	ENSG00000169676	4676	g.chr4:9784960G>A	activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane								186.806903	KEEP	32	33	-1	28	50	32	33	-1	186.937695	28	50	0.466667	1	0	0	0	0	1	0	0	0	--	--		0	A				237	GBM-32-2495-TP	p.R436H	G	CCTTTCGATCGCATGTTCCAG	NM_000798	NP_000789	9784960	P21918	DRD5_HUMAN	0			1	1703	+	A	A			Missense_Mutation	436			Cytoplasmic (Potential).			
DRG2	1819	broad.mit.edu	GRCh37	17	18007951	18007951	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0882-01	TCGA-06-0882-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000225729.3:c.910A>T	p.Thr304Ser	p.T304S	ENST00000225729	NM_001388.4	304	Aca/Tca	0			1			T	T/S	uc002gsh.1	protein_coding	YES	CCDS11191.1			910/1095									ovary(1)	1	c.(910-912)ACA>TCA			Gene3D:3.40.50.300,Pfam_domain:PF02824,hmmpanther:PTHR11702,hmmpanther:PTHR11702:SF26,Superfamily_domains:SSF81271	developmentally regulated GTP binding protein 2				ENSP00000225729		13-Nov									COSM2152375	13-Nov	.		ENST00000225729	Transcript			signal transduction		GTP binding	ENSG00000108591	g.chr17:18007951A>T	3030			MODERATE		0.17	neutral	getma.org/?cm=msa&ty=f&p=DRG2_HUMAN&rb=290&re=363&var=T304S	getma.org/pdb.php?prot=DRG2_HUMAN&from=290&to=363&var=T304S	getma.org/?cm=var&var=hg19,17,18007951,A,T&fts=all	T304S	--	--	1																																		DRG2_uc002gsi.1_RNA|DRG2_uc002gsj.1_Missense_Mutation_p.T304S	1	1		benign(0.002)	p.T304S	NM_001388	NP_001379		tolerated(1)	1	DRG2_HUMAN	DRG2	HGNC	P55039	DRG2_HUMAN					11	965	+	all_neural(463;0.228)		UPI000012987D	304					SNV	DRG2,missense_variant,p.Thr304Ser,ENST00000225729,NM_001388.4;DRG2,missense_variant,p.Thr304Ser,ENST00000395726,;DRG2,missense_variant,p.His110Leu,ENST00000583355,;MYO15A,upstream_gene_variant,,ENST00000205890,NM_016239.3;DRG2,downstream_gene_variant,,ENST00000579601,;DRG2,downstream_gene_variant,,ENST00000580929,;DRG2,3_prime_UTR_variant,,ENST00000467099,;DRG2,3_prime_UTR_variant,,ENST00000580055,;DRG2,non_coding_transcript_exon_variant,,ENST00000582528,;DRG2,non_coding_transcript_exon_variant,,ENST00000497744,;DRG2,upstream_gene_variant,,ENST00000482564,;DRG2,downstream_gene_variant,,ENST00000582314,;DRG2,downstream_gene_variant,,ENST00000583162,;DRG2,downstream_gene_variant,,ENST00000496428,;DRG2,downstream_gene_variant,,ENST00000579224,;DRG2,downstream_gene_variant,,ENST00000577450,;	uc002gsh.1	c.910A>T	1048/1964	2	2			c.910A>T						17	SNP	c.(910-912)ACA>TCA	22	22			ovary(1)	1	Broad	developmentally regulated GTP binding protein 2			18007951		0.607	ENSG00000108591	4678	g.chr17:18007951A>T	signal transduction		GTP binding							51.241248	KEEP	15	6	-1	43	31	15	6	-1	56.910573	43	31	0.235955	1	0	0	0	0	1	0	0	0	--	--		0	T			DRG2_uc002gsi.1_RNA|DRG2_uc002gsj.1_Missense_Mutation_p.T304S	77	GBM-06-0882-TP	p.T304S	A	GCCAGACTTCACAGACGCCAT	NM_001388	NP_001379	18007951	P55039	DRG2_HUMAN	0			11	965	+	T	T	all_neural(463;0.228)		Missense_Mutation	304						
DROSHA	0	broad.mit.edu	GRCh37	5	31468080	31468080	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344624.3:c.2332C>T	p.Arg778Cys	p.R778C	ENST00000344624		778	Cgc/Tgc	0			1			A	R/C	uc003jhg.2	protein_coding		CCDS47195.1			2332/4125										0	c.(2332-2334)CGC>TGC			hmmpanther:PTHR11207	ribonuclease III, nuclear isoform 1				ENSP00000339845		15/33									COSM1223867	15/33	.		ENST00000344624	Transcript			gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	ENSG00000113360	g.chr5:31468080G>A	17904			MODERATE		2.485	medium	getma.org/?cm=msa&ty=f&p=RNC_HUMAN&rb=601&re=800&var=R778C	NA	getma.org/?cm=var&var=hg19,5,31468080,G,A&fts=all	R778C	--	--	1																																		RNASEN_uc003jhh.2_Missense_Mutation_p.R741C|RNASEN_uc003jhi.2_Missense_Mutation_p.R741C	1			possibly_damaging(0.649)	p.R778C	NM_013235	NP_037367		deleterious(0.02)	1	RNC_HUMAN	DROSHA	HGNC	Q9NRR4	RNC_HUMAN			E5RHD1_HUMAN		17	2691	-			UPI0000134351	778			Necessary for interaction with DGCR8 and pri-miRNA processing activity.		SNV	DROSHA,missense_variant,p.Arg778Cys,ENST00000511367,NM_013235.4;DROSHA,missense_variant,p.Arg778Cys,ENST00000344624,;DROSHA,missense_variant,p.Arg741Cys,ENST00000442743,;DROSHA,missense_variant,p.Arg741Cys,ENST00000513349,NM_001100412.1;DROSHA,non_coding_transcript_exon_variant,,ENST00000510375,;DROSHA,non_coding_transcript_exon_variant,,ENST00000512124,;DROSHA,non_coding_transcript_exon_variant,,ENST00000505601,;DROSHA,downstream_gene_variant,,ENST00000512885,;DROSHA,non_coding_transcript_exon_variant,,ENST00000511803,;DROSHA,non_coding_transcript_exon_variant,,ENST00000509608,;DROSHA,upstream_gene_variant,,ENST00000507174,;	uc003jhg.2	c.2332C>T	2379/5102	2	2			c.2332C>T						5	SNP	c.(2332-2334)CGC>TGC	30	30				0	Broad	ribonuclease III, nuclear isoform 1			31468080		0.438	ENSG00000113360	13199	g.chr5:31468080G>A	gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity							37.795843	KEEP	6	7	-1	8	10	6	7	-1	37.983777	8	10	0.413793	1	0	0	0	0	1	0	0	0	--	--		0	A			RNASEN_uc003jhh.2_Missense_Mutation_p.R741C|RNASEN_uc003jhi.2_Missense_Mutation_p.R741C	120	GBM-12-0619-TP	p.R778C	G	TGTGCAGGGCGTATCCCAAAG	NM_013235	NP_037367	31468080	Q9NRR4	RNC_HUMAN	0			17	2691	-	A	A			Missense_Mutation	778			Necessary for interaction with DGCR8 and pri-miRNA processing activity.			
DROSHA	0	broad.mit.edu	GRCh37	5	31508865	31508865	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01	TCGA-41-2572-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344624.3:c.1450G>A	p.Glu484Lys	p.E484K	ENST00000344624		484	Gag/Aag	0			1			T	E/K	uc003jhg.2	protein_coding		CCDS47195.1			1450/4125										0	c.(1450-1452)GAG>AAG			Low_complexity_(Seg):seg,hmmpanther:PTHR11207	ribonuclease III, nuclear isoform 1				ENSP00000339845		Jul-33									COSM3410231	Jul-33	.		ENST00000344624	Transcript			gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	ENSG00000113360	g.chr5:31508865C>T	17904			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=RNC_HUMAN&rb=401&re=600&var=E484K	NA	getma.org/?cm=var&var=hg19,5,31508865,C,T&fts=all	E484K	--	--	1																																		RNASEN_uc003jhh.2_Missense_Mutation_p.E447K|RNASEN_uc003jhi.2_Missense_Mutation_p.E447K|RNASEN_uc010iui.1_Missense_Mutation_p.E407K	1			benign(0.145)	p.E484K	NM_013235	NP_037367		tolerated(0.64)	1	RNC_HUMAN	DROSHA	HGNC	Q9NRR4	RNC_HUMAN			E5RHD1_HUMAN		9	1809	-			UPI0000134351	484					SNV	DROSHA,missense_variant,p.Glu484Lys,ENST00000511367,NM_013235.4;DROSHA,missense_variant,p.Glu484Lys,ENST00000344624,;DROSHA,missense_variant,p.Glu447Lys,ENST00000442743,;DROSHA,missense_variant,p.Glu447Lys,ENST00000513349,NM_001100412.1;DROSHA,missense_variant,p.Glu246Lys,ENST00000512076,;Y_RNA,downstream_gene_variant,,ENST00000383955,;	uc003jhg.2	c.1450G>A	1497/5102	1	1			c.1450G>A						5	SNP	c.(1450-1452)GAG>AAG	10	10				0	Broad	ribonuclease III, nuclear isoform 1			31508865		0.378	ENSG00000113360	13199	g.chr5:31508865C>T	gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity							61.664334	KEEP	12	10	-1	19	18	12	10	-1	62.163609	19	18	0.396226	1	0	0	0	0	1	0	0	0	--	--		0	T			RNASEN_uc003jhh.2_Missense_Mutation_p.E447K|RNASEN_uc003jhi.2_Missense_Mutation_p.E447K|RNASEN_uc010iui.1_Missense_Mutation_p.E407K	251	GBM-41-2572-TP	p.E484K	C	GACTCACACTCGGATTCACTG	NM_013235	NP_037367	31508865	Q9NRR4	RNC_HUMAN	0			9	1809	-	T	T			Missense_Mutation	484						
DRP2	0	broad.mit.edu	GRCh37	X	100511129	100511129	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01	TCGA-16-1045-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395209.3:c.2269C>T	p.Arg757Trp	p.R757W	ENST00000395209	NM_001939.2	757	Cgg/Tgg	0			1			T	R/W	uc004egz.2	protein_coding	YES	CCDS14480.2			2269/2874									ovary(2)	2	c.(2269-2271)CGG>TGG			hmmpanther:PTHR11915,PIRSF_domain:PIRSF038205	dystrophin related protein 2				ENSP00000378635		21/24	8.24E-05					0.00015			rs201693431,COSM3405772	21/24	.		ENST00000395209	Transcript			central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	ENSG00000102385	g.chrX:100511129C>T	3032			MODERATE		2.25	medium	getma.org/?cm=msa&ty=f&p=DRP2_HUMAN&rb=650&re=849&var=R757W	NA	getma.org/?cm=var&var=hg19,X,100511129,C,T&fts=all	R757W	--	--	1																																		DRP2_uc011mrh.1_Missense_Mutation_p.R679W	0,1	1		probably_damaging(0.977)	p.R757W	NM_001939	NP_001930		deleterious(0)	0,1	DRP2_HUMAN	DRP2	HGNC	Q13474	DRP2_HUMAN					21	2638	+			UPI000013D388	757					SNV	DRP2,missense_variant,p.Arg757Trp,ENST00000395209,NM_001939.2;DRP2,missense_variant,p.Arg757Trp,ENST00000402866,;DRP2,missense_variant,p.Arg757Trp,ENST00000538510,;DRP2,missense_variant,p.Arg679Trp,ENST00000541709,NM_001171184.1;DRP2,downstream_gene_variant,,ENST00000372916,;	uc004egz.2	c.2269C>T	2796/7277	2	2			c.2269C>T						23	SNP	c.(2269-2271)CGG>TGG	34	34			ovary(2)	2	Broad	dystrophin related protein 2			100511129		0.582	ENSG00000102385	4680	g.chrX:100511129C>T	central nervous system development	cytoplasm|cytoskeleton	zinc ion binding							86.121836	KEEP	21	20	-1	83	79	21	20	-1	99.461985	83	79	0.216667	1	0	0	0	0	1	0	0	0	--	--		0	T			DRP2_uc011mrh.1_Missense_Mutation_p.R679W	157	GBM-16-1045-TP	p.R757W	C	GTACCTGCTGCGGCACTCCAG	NM_001939	NP_001930	100511129	Q13474	DRP2_HUMAN	0			21	2638	+	T	T			Missense_Mutation	757						
DRP2	1821		GRCh37	X	100490945	100490945	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000395209.3:c.214G>C	p.Gly72Arg	p.G72R	ENST00000395209	NM_001939.2	72	Gga/Cga	0																																																																																																																																																																																																																																												
DSC1	1823	broad.mit.edu	GRCh37	18	28710546	28710546	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257198.5:c.2616G>A	p.Glu872=	p.E872=	ENST00000257198	NM_024421.2	872	gaG/gaA	0			1			T	E	uc002kwn.2	protein_coding	YES	CCDS11894.1			2616/2685									ovary(3)|skin(1)	4	c.(2614-2616)GAG>GAA			Gene3D:4.10.900.10,Pfam_domain:PF01049,Prints_domain:PR01818,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF8	desmocollin 1 isoform Dsc1a preproprotein				ENSP00000257198		16/16	3.29E-05					5.99E-05			rs758525190,COSM2151447	16/16	.		ENST00000257198	Transcript			homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	ENSG00000134765	g.chr18:28710546C>T	3035			LOW								--	--	1																																		DSC1_uc002kwm.2_3'UTR|uc002kwo.1_5'Flank	0,1	1			p.E872E	NM_024421	NP_077739			0,1	DSC1_HUMAN	DSC1	HGNC	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)				16	2878	-			UPI000006DF10	872			Cytoplasmic (Potential).		SNV	DSC1,synonymous_variant,p.=,ENST00000257198,NM_024421.2;DSC1,3_prime_UTR_variant,,ENST00000257197,NM_004948.3;RP11-408H20.2,intron_variant,,ENST00000581836,;RP11-408H20.3,upstream_gene_variant,,ENST00000582307,;	uc002kwn.2	c.2616G>A	2878/4225	2	2			c.2616G>A						18	SNP	c.(2614-2616)GAG>GAA	45	45			ovary(3)|skin(1)	4	Broad	desmocollin 1 isoform Dsc1a preproprotein			28710546		0.423	ENSG00000134765	4681	g.chr18:28710546C>T	homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding							179.658632	KEEP	42	31	-1	73	58	42	31	-1	182.802705	73	58	0.360656	1	0	0	0	0	0	0	1	0	--	--		0	T			DSC1_uc002kwm.2_3'UTR|uc002kwo.1_5'Flank	62	GBM-06-0649-TP	p.E872E	C	ACTCCAGTCCCTCTTCTTCCT	NM_024421	NP_077739	28710546	Q08554	DSC1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		16	2878	-	T	T			Silent	872			Cytoplasmic (Potential).			
DSC1	0	broad.mit.edu	GRCh37	18	28736074	28736074	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-27-2528-01	TCGA-27-2528-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257198.5:c.403C>T	p.Arg135Ter	p.R135*	ENST00000257198	NM_024421.2	135	Cga/Tga	0			1			A	R/*	uc002kwn.2	protein_coding	YES	CCDS11894.1			403/2685									ovary(3)|skin(1)	4	c.(403-405)CGA>TGA			PROSITE_profiles:PS50268,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF8,Superfamily_domains:SSF49313	desmocollin 1 isoform Dsc1a preproprotein				ENSP00000257198		16-Apr	8.24E-06			0.000116					rs773655264,COSM987517,COSM987516	16-Apr	.		ENST00000257198	Transcript			homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	ENSG00000134765	g.chr18:28736074G>A	3035			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,18,28736074,G,A&fts=all	R135*	--	--	1																																		DSC1_uc002kwm.2_Nonsense_Mutation_p.R135*	0,1,1	1			p.R135*	NM_024421	NP_077739			0,1,1	DSC1_HUMAN	DSC1	HGNC	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)				4	665	-			UPI000006DF10	135			Cadherin 1.|Extracellular (Potential).		SNV	DSC1,stop_gained,p.Arg135Ter,ENST00000257197,NM_004948.3;DSC1,stop_gained,p.Arg135Ter,ENST00000257198,NM_024421.2;RP11-408H20.2,intron_variant,,ENST00000581836,;	uc002kwn.2	c.403C>T	665/4225	5	1			c.403C>T						18	SNP	c.(403-405)CGA>TGA	59	59			ovary(3)|skin(1)	4	Broad	desmocollin 1 isoform Dsc1a preproprotein			28736074		0.413	ENSG00000134765	4681	g.chr18:28736074G>A	homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding							125.888543	KEEP	20	26	-1	60	56	20	26	-1	131.650401	60	56	0.294118	1	0	0	0	0	0	1	0	0	--	--		0	A			DSC1_uc002kwm.2_Nonsense_Mutation_p.R135*	205	GBM-27-2528-TP	p.R135*	G	GGAGCCCATCGTCTCTTGCTG	NM_024421	NP_077739	28736074	Q08554	DSC1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		4	665	-	A	A			Nonsense_Mutation	135			Cadherin 1.|Extracellular (Potential).			
DSC1	1823		GRCh37	18	28712602	28712602	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000257198.5:c.2167T>A	p.Cys723Ser	p.C723S	ENST00000257198	NM_024421.2	723	Tgt/Agt	0																																																																																																																																																																																																																																												
DSC2	1824	broad.mit.edu	GRCh37	18	28671091	28671091	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0171-01	TCGA-06-0171-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000280904.6:c.374C>A	p.Thr125Asn	p.T125N	ENST00000280904	NM_024422.3	125	aCt/aAt	0			1			T	T/N	uc002kwl.3	protein_coding	YES	CCDS11892.1			374/2706									ovary(2)|skin(1)	3	c.(373-375)ACT>AAT			hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF0,Superfamily_domains:SSF49313	desmocollin 2 isoform Dsc2a preproprotein				ENSP00000280904		16-Apr									COSM2150345,COSM2150346	16-Apr	.		ENST00000280904	Transcript	1		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	ENSG00000134755	g.chr18:28671091G>T	3036			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=DSC2_HUMAN&rb=90&re=169&var=T125N	NA	getma.org/?cm=var&var=hg19,18,28671091,G,T&fts=all	T125N	--	--	1																																		DSC2_uc002kwk.3_Missense_Mutation_p.T125N	1,1	1		benign(0)	p.T125N	NM_024422	NP_077740		deleterious(0.04)	1,1	DSC2_HUMAN	DSC2	HGNC	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		A9X9L1_HUMAN		4	828	-			UPI00001298F9	125					SNV	DSC2,missense_variant,p.Thr125Asn,ENST00000280904,NM_024422.3;DSC2,missense_variant,p.Thr125Asn,ENST00000251081,NM_004949.3;	uc002kwl.3	c.374C>A	818/5124	2	2			c.374C>A						18	SNP	c.(373-375)ACT>AAT	48	48			ovary(2)|skin(1)	3	Broad	desmocollin 2 isoform Dsc2a preproprotein			28671091		0.368	ENSG00000134755	4682	g.chr18:28671091G>T	homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding							81.194188	KEEP	17	11	0.607142857	25	40	17	11	0.607142857	83.573849	25	40	0.321429	1	0	0	0	0	1	0	0	0	--	--		0	T			DSC2_uc002kwk.3_Missense_Mutation_p.T125N	35	GBM-06-0171-TP	p.T125N	G	TTTTTCTTTAGTATGTCTTTT	NM_024422	NP_077740	28671091	Q02487	DSC2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		4	828	-	T	T			Missense_Mutation	125						
DSC2	0	broad.mit.edu	GRCh37	18	28673541	28673541	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000280904.6:c.135C>T	p.Ala45=	p.A45=	ENST00000280904	NM_024422.3	45	gcC/gcT	0			1			A	A	uc002kwl.3	protein_coding	YES	CCDS11892.1			135/2706									ovary(2)|skin(1)	3	c.(133-135)GCC>GCT			Gene3D:2.60.40.60,Pfam_domain:PF08758,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF0,SMART_domains:SM01055,Superfamily_domains:SSF49313	desmocollin 2 isoform Dsc2a preproprotein				ENSP00000280904		16-Feb	8.24E-05	9.61E-05	0.000346			4.50E-05		0.000121	rs749323567,COSM2808988,COSM2808989	16-Feb	.		ENST00000280904	Transcript	1		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	ENSG00000134755	g.chr18:28673541G>A	3036			LOW								--	--	1																																		DSC2_uc002kwk.3_Silent_p.A45A|DSC2_uc010xbo.1_Silent_p.A45A	0,1,1	1			p.A45A	NM_024422	NP_077740			0,1,1	DSC2_HUMAN	DSC2	HGNC	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		A9X9L1_HUMAN		2	589	-			UPI00001298F9	45					SNV	DSC2,synonymous_variant,p.=,ENST00000280904,NM_024422.3;DSC2,synonymous_variant,p.=,ENST00000251081,NM_004949.3;	uc002kwl.3	c.135C>T	579/5124	2	2			c.135C>T						18	SNP	c.(133-135)GCC>GCT	17	17			ovary(2)|skin(1)	3	Broad	desmocollin 2 isoform Dsc2a preproprotein			28673541		0.259	ENSG00000134755	4682	g.chr18:28673541G>A	homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding							26.274538	KEEP	15	17	-1	105	148	15	17	-1	60.734539	105	148	0.104072	1	0	0	0	0	0	0	1	0	--	--		0	A			DSC2_uc002kwk.3_Silent_p.A45A|DSC2_uc010xbo.1_Silent_p.A45A	213	GBM-28-2513-TP	p.A45A	G	CAAGTTTCTCGGCATCTAGTT	NM_024422	NP_077740	28673541	Q02487	DSC2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		2	589	-	A	A			Silent	45						
DSC2	0	broad.mit.edu	GRCh37	18	28654745	28654745	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-4208-01	TCGA-32-4208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000280904.6:c.1792G>C	p.Asp598His	p.D598H	ENST00000280904	NM_024422.3	598	Gat/Cat	0			1			G	D/H	uc002kwl.3	protein_coding	YES	CCDS11892.1			1792/2706									ovary(2)|skin(1)	3	c.(1792-1794)GAT>CAT			Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF0,SMART_domains:SM00112,Superfamily_domains:SSF49313	desmocollin 2 isoform Dsc2a preproprotein				ENSP00000280904		16-Dec									COSM3403496,COSM3403497	16-Dec	.		ENST00000280904	Transcript	1		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	ENSG00000134755	g.chr18:28654745C>G	3036			MODERATE		3.08	medium	getma.org/?cm=msa&ty=f&p=DSC2_HUMAN&rb=580&re=694&var=D598H	getma.org/pdb.php?prot=DSC2_HUMAN&from=580&to=694&var=D598H	getma.org/?cm=var&var=hg19,18,28654745,C,G&fts=all	D598H	--	--	1																																		DSC2_uc002kwk.3_Missense_Mutation_p.D598H	1,1	1		probably_damaging(0.927)	p.D598H	NM_024422	NP_077740		deleterious(0)	1,1	DSC2_HUMAN	DSC2	HGNC	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		A9X9L1_HUMAN		12	2246	-			UPI00001298F9	598			Extracellular (Potential).|Cadherin 5.		SNV	DSC2,missense_variant,p.Asp598His,ENST00000280904,NM_024422.3;DSC2,missense_variant,p.Asp598His,ENST00000251081,NM_004949.3;snoU13,downstream_gene_variant,,ENST00000459603,;	uc002kwl.3	c.1792G>C	2236/5124	4	4			c.1792G>C						18	SNP	c.(1792-1794)GAT>CAT	17	17			ovary(2)|skin(1)	3	Broad	desmocollin 2 isoform Dsc2a preproprotein			28654745		0.428	ENSG00000134755	4682	g.chr18:28654745C>G	homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding							-13.087914	KEEP	2	2	-1	44	58	2	2	-1	9.155728	44	58	0.040816	1	0	0	0	0	1	0	0	0	--	--		0	G			DSC2_uc002kwk.3_Missense_Mutation_p.D598H	243	GBM-32-4208-TP	p.D598H	C	TCATCAGGATCAACCGCAACA	NM_024422	NP_077740	28654745	Q02487	DSC2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		12	2246	-	G	G			Missense_Mutation	598			Extracellular (Potential).|Cadherin 5.			
DSC2	0	broad.mit.edu	GRCh37	18	28659892	28659892	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-32-4210-01	TCGA-32-4210-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000280904.6:c.1584A>T	p.Lys528Asn	p.K528N	ENST00000280904	NM_024422.3	528	aaA/aaT	0			1			A	K/N	uc002kwl.3	protein_coding	YES	CCDS11892.1			1584/2706									ovary(2)|skin(1)	3	c.(1582-1584)AAA>AAT			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF0,SMART_domains:SM00112,Superfamily_domains:SSF49313	desmocollin 2 isoform Dsc2a preproprotein				ENSP00000280904		16-Nov									COSM3403498,COSM3403499	16-Nov	.		ENST00000280904	Transcript	1		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	ENSG00000134755	g.chr18:28659892T>A	3036			MODERATE		2.465	medium	getma.org/?cm=msa&ty=f&p=DSC2_HUMAN&rb=476&re=568&var=K528N	getma.org/pdb.php?prot=DSC2_HUMAN&from=476&to=568&var=K528N	getma.org/?cm=var&var=hg19,18,28659892,T,A&fts=all	K528N	--	--	1																																		DSC2_uc002kwk.3_Missense_Mutation_p.K528N	1,1	1		benign(0.158)	p.K528N	NM_024422	NP_077740		tolerated(0.39)	1,1	DSC2_HUMAN	DSC2	HGNC	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		A9X9L1_HUMAN		11	2038	-			UPI00001298F9	528			Extracellular (Potential).|Cadherin 4.		SNV	DSC2,missense_variant,p.Lys528Asn,ENST00000280904,NM_024422.3;DSC2,missense_variant,p.Lys528Asn,ENST00000251081,NM_004949.3;	uc002kwl.3	c.1584A>T	2028/5124	1	1			c.1584A>T						18	SNP	c.(1582-1584)AAA>AAT	64	64			ovary(2)|skin(1)	3	Broad	desmocollin 2 isoform Dsc2a preproprotein			28659892		0.343	ENSG00000134755	4682	g.chr18:28659892T>A	homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding							414.644342	KEEP	76	96	-1	118	152	76	96	-1	419.298259	118	152	0.382199	1	0	0	0	0	1	0	0	0	--	--		0	A			DSC2_uc002kwk.3_Missense_Mutation_p.K528N	245	GBM-32-4210-TP	p.K528N	T	TTCTGAAAACTTTGATTGATC	NM_024422	NP_077740	28659892	Q02487	DSC2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		11	2038	-	A	A			Missense_Mutation	528			Extracellular (Potential).|Cadherin 4.			
DSC2	1824		GRCh37	18	28662997	28662997	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000280904.6:c.972A>T	p.Lys324Asn	p.K324N	ENST00000280904	NM_024422.3	324	aaA/aaT	0																																																																																																																																																																																																																																												
DSC2	1824		GRCh37	18	28671015	28671015	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000280904.6:c.450T>G	p.Gly150=	p.G150=	ENST00000280904	NM_024422.3	150	ggT/ggG	0																																																																																																																																																																																																																																												
DSC3	1825	broad.mit.edu	GRCh37	18	28598687	28598687	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0173-01	TCGA-06-0173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360428.4:c.1022G>T	p.Cys341Phe	p.C341F	ENST00000360428	NM_001941.3	341	tGt/tTt	0			1			A	C/F	uc002kwj.3	protein_coding	YES	CCDS32810.1			1022/2691									ovary(2)|skin(2)	4	c.(1021-1023)TGT>TTT			Prints_domain:PR00205,Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24025:SF6,hmmpanther:PTHR24025,PROSITE_profiles:PS50268	desmocollin 3 isoform Dsc3a preproprotein				ENSP00000353608		16-Aug									COSM2150365,COSM2150366	16-Aug	.		ENST00000360428	Transcript	1		homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	ENSG00000134762	g.chr18:28598687C>A	3037			MODERATE		1.82	low	getma.org/?cm=msa&ty=f&p=DSC3_HUMAN&rb=248&re=346&var=C341F	getma.org/pdb.php?prot=DSC3_HUMAN&from=248&to=346&var=C341F	getma.org/?cm=var&var=hg19,18,28598687,C,A&fts=all	C341F	--	--	1																																		DSC3_uc002kwi.3_Missense_Mutation_p.C341F	1,1	1		probably_damaging(0.959)	p.C341F	NM_001941	NP_001932		deleterious(0)	1,1	DSC3_HUMAN	DSC3	HGNC	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)				8	1177	-			UPI000004CAAD	341			Extracellular (Potential).|Cadherin 2.		SNV	DSC3,missense_variant,p.Cys341Phe,ENST00000434452,NM_024423.2;DSC3,missense_variant,p.Cys341Phe,ENST00000360428,NM_001941.3;	uc002kwj.3	c.1022G>T	1103/6939	2	2			c.1022G>T						18	SNP	c.(1021-1023)TGT>TTT	22	22			ovary(2)|skin(2)	4	Broad	desmocollin 3 isoform Dsc3a preproprotein			28598687		0.338	ENSG00000134762	4683	g.chr18:28598687C>A	homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding							182.224377	KEEP	26	38	0.59375	53	41	26	38	0.59375	183.055415	53	41	0.417266	1	0	0	0	0	1	0	0	0	--	--		0	A			DSC3_uc002kwi.3_Missense_Mutation_p.C341F	36	GBM-06-0173-TP	p.C341F	C	TGTTATGATACAAGTTGATGT	NM_001941	NP_001932	28598687	Q14574	DSC3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(10;0.125)		8	1177	-	A	A			Missense_Mutation	341			Extracellular (Potential).|Cadherin 2.			
DSC3	1825	broad.mit.edu	GRCh37	18	28584256	28584256	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0646-01	TCGA-06-0646-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360428.4:c.1965G>A	p.Arg655=	p.R655=	ENST00000360428	NM_001941.3	655	agG/agA	0			1			T	R	uc002kwj.3	protein_coding	YES	CCDS32810.1			1965/2691									ovary(2)|skin(2)	4	c.(1963-1965)AGG>AGA			Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,hmmpanther:PTHR24025:SF6,hmmpanther:PTHR24025,PROSITE_profiles:PS50268	desmocollin 3 isoform Dsc3a preproprotein				ENSP00000353608		13/16	2.47E-05			0.000116				0.000121	rs781050028,COSM2151335,COSM2151336	13/16	.		ENST00000360428	Transcript	1		homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	ENSG00000134762	g.chr18:28584256C>T	3037			LOW								--	--	1																																		DSC3_uc002kwi.3_Silent_p.R655R	0,1,1	1			p.R655R	NM_001941	NP_001932			0,1,1	DSC3_HUMAN	DSC3	HGNC	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)				13	2120	-			UPI000004CAAD	655			Extracellular (Potential).|Cadherin 5.		SNV	DSC3,synonymous_variant,p.=,ENST00000434452,NM_024423.2;DSC3,synonymous_variant,p.=,ENST00000360428,NM_001941.3;DSC3,synonymous_variant,p.=,ENST00000584980,;	uc002kwj.3	c.1965G>A	2046/6939	1	1			c.1965G>A						18	SNP	c.(1963-1965)AGG>AGA	12	12			ovary(2)|skin(2)	4	Broad	desmocollin 3 isoform Dsc3a preproprotein			28584256		0.383	ENSG00000134762	4683	g.chr18:28584256C>T	homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding							170.718735	KEEP	24	40	-1	59	60	24	40	-1	173.86461	59	60	0.35	1	0	0	0	0	0	0	1	0	--	--		0	T			DSC3_uc002kwi.3_Silent_p.R655R	60	GBM-06-0646-TP	p.R655R	C	CTTGGCCGGCCCTGTCTTTTA	NM_001941	NP_001932	28584256	Q14574	DSC3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(10;0.125)		13	2120	-	T	T			Silent	655			Extracellular (Potential).|Cadherin 5.			
DSC3	0	broad.mit.edu	GRCh37	18	28605880	28605880	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-5952-01	TCGA-19-5952-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360428.4:c.476T>C	p.Val159Ala	p.V159A	ENST00000360428	NM_001941.3	159	gTt/gCt	0			1			G	V/A	uc002kwj.3	protein_coding	YES	CCDS32810.1			476/2691									ovary(2)|skin(2)	4	c.(475-477)GTT>GCT			Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24025:SF6,hmmpanther:PTHR24025,PROSITE_profiles:PS50268	desmocollin 3 isoform Dsc3a preproprotein				ENSP00000353608		16-May									COSM2156702,COSM2156703	16-May	.		ENST00000360428	Transcript	1		homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	ENSG00000134762	g.chr18:28605880A>G	3037			MODERATE		2.66	medium	getma.org/?cm=msa&ty=f&p=DSC3_HUMAN&rb=140&re=234&var=V159A	getma.org/pdb.php?prot=DSC3_HUMAN&from=140&to=234&var=V159A	getma.org/?cm=var&var=hg19,18,28605880,A,G&fts=all	V159A	--	--	1																																		DSC3_uc002kwi.3_Missense_Mutation_p.V159A	1,1	1		probably_damaging(0.929)	p.V159A	NM_001941	NP_001932		deleterious(0)	1,1	DSC3_HUMAN	DSC3	HGNC	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)				5	631	-			UPI000004CAAD	159			Cadherin 1.|Extracellular (Potential).		SNV	DSC3,missense_variant,p.Val159Ala,ENST00000434452,NM_024423.2;DSC3,missense_variant,p.Val159Ala,ENST00000360428,NM_001941.3;	uc002kwj.3	c.476T>C	557/6939	3	3			c.476T>C						18	SNP	c.(475-477)GTT>GCT	6	6			ovary(2)|skin(2)	4	Broad	desmocollin 3 isoform Dsc3a preproprotein			28605880		0.264	ENSG00000134762	4683	g.chr18:28605880A>G	homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding							56.258893	KEEP	7	12	-1	15	26	7	12	-1	57.770134	15	26	0.320755	1	0	0	0	0	1	0	0	0	--	--		0	G			DSC3_uc002kwi.3_Missense_Mutation_p.V159A	172	GBM-19-5952-TP	p.V159A	A	ATCAGATTCAACCTAAAAGTA	NM_001941	NP_001932	28605880	Q14574	DSC3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(10;0.125)		5	631	-	G	G			Missense_Mutation	159			Cadherin 1.|Extracellular (Potential).			
DSC3	0	broad.mit.edu	GRCh37	18	28604418	28604418	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-32-2634-01	TCGA-32-2634-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360428.4:c.672T>A	p.Asp224Glu	p.D224E	ENST00000360428	NM_001941.3	224	gaT/gaA	0			1			T	D/E	uc002kwj.3	protein_coding	YES	CCDS32810.1			672/2691									ovary(2)|skin(2)	4	c.(670-672)GAT>GAA			Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,hmmpanther:PTHR24025:SF6,hmmpanther:PTHR24025,PROSITE_profiles:PS50268	desmocollin 3 isoform Dsc3a preproprotein				ENSP00000353608		16-Jun									COSM3403494,COSM3403495	16-Jun	.		ENST00000360428	Transcript	1		homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	ENSG00000134762	g.chr18:28604418A>T	3037			MODERATE		-1.095	neutral	getma.org/?cm=msa&ty=f&p=DSC3_HUMAN&rb=140&re=234&var=D224E	getma.org/pdb.php?prot=DSC3_HUMAN&from=140&to=234&var=D224E	getma.org/?cm=var&var=hg19,18,28604418,A,T&fts=all	D224E	0.2	neutral	1																																		DSC3_uc002kwi.3_Missense_Mutation_p.D224E	1,1	1		probably_damaging(0.999)	p.D224E	NM_001941	NP_001932		tolerated(1)	1,1	DSC3_HUMAN	DSC3	HGNC	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)				6	827	-			UPI000004CAAD	224			Cadherin 1.|Extracellular (Potential).		SNV	DSC3,missense_variant,p.Asp224Glu,ENST00000434452,NM_024423.2;DSC3,missense_variant,p.Asp224Glu,ENST00000360428,NM_001941.3;	uc002kwj.3	c.672T>A	753/6939	1	1			c.672T>A						18	SNP	c.(670-672)GAT>GAA	4	4			ovary(2)|skin(2)	4	Broad	desmocollin 3 isoform Dsc3a preproprotein			28604418		0.398	ENSG00000134762	4683	g.chr18:28604418A>T	homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding							144.429612	KEEP	19	23	-1	9	2	19	23	-1	148.616003	9	2	0.8	1	0	0	0	0	1	0	0	0	0.2	neutral		0	T			DSC3_uc002kwi.3_Missense_Mutation_p.D224E	241	GBM-32-2634-TP	p.D224E	A	GGAGGGGCAGATCTGCTGAAT	NM_001941	NP_001932	28604418	Q14574	DSC3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(10;0.125)		6	827	-	T	T			Missense_Mutation	224			Cadherin 1.|Extracellular (Potential).			
DSC3	1825		GRCh37	18	28576781	28576781	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000360428.4:c.2469T>A	p.Ser823Arg	p.S823R	ENST00000360428	NM_001941.3	823	agT/agA	0																																																																																																																																																																																																																																												
DSCAML1	57453	broad.mit.edu	GRCh37	11	117306485	117306485	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01	TCGA-06-0169-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321322.6:c.4931G>A	p.Gly1644Asp	p.G1644D	ENST00000321322	NM_020693.2	1644	gGt/gAt	0			1			T	G/D	uc001prh.1	protein_coding	YES	CCDS8384.1			4931/6342									ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	c.(4930-4932)GGT>GAT			hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF171	Down syndrome cell adhesion molecule like 1				ENSP00000315465		27/33									COSM2150258	27/33	.		ENST00000321322	Transcript			axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	ENSG00000177103	g.chr11:117306485C>T	14656			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=DSCL1_HUMAN&rb=1468&re=1667&var=G1584D	NA	getma.org/?cm=var&var=hg19,11,117306485,C,T&fts=all	G1584D	--	--	1																																			1	1		benign(0.373)	p.G1644D	NM_020693	NP_065744		tolerated(0.09)	1	DSCL1_HUMAN	DSCAML1	HGNC	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)			27	4933	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	UPI00000726E2	1584			Extracellular (Potential).		SNV	DSCAML1,missense_variant,p.Gly1644Asp,ENST00000321322,NM_020693.2;DSCAML1,missense_variant,p.Gly1374Asp,ENST00000527706,;	uc001prh.1	c.4931G>A	4933/6899	1	1			c.4931G>A						11	SNP	c.(4930-4932)GGT>GAT	1	1			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	Broad	Down syndrome cell adhesion molecule like 1			117306485		0.522	ENSG00000177103	4685	g.chr11:117306485C>T	axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity							85.285751	KEEP	13	23	-1	54	48	13	23	-1	89.830483	54	48	0.284404	1	0	0	0	0	1	0	0	0	--	--		0	T				34	GBM-06-0169-TP	p.G1644D	C	ATCCCCTTCACCTTGAGCAGA	NM_020693	NP_065744	117306485	Q8TD84	DSCL1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	27	4933	-	T	T	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	Missense_Mutation	1584			Extracellular (Potential).			
DSCAML1	0	broad.mit.edu	GRCh37	11	117342628	117342628	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321322.6:c.3089G>A	p.Arg1030His	p.R1030H	ENST00000321322	NM_020693.2	1030	cGc/cAc	0			1			T	R/H	uc001prh.1	protein_coding	YES	CCDS8384.1			3089/6342									ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	c.(3088-3090)CGC>CAC			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF171,SMART_domains:SM00060,Superfamily_domains:SSF49265	Down syndrome cell adhesion molecule like 1				ENSP00000315465		15/33	4.12E-05		0.000346			1.50E-05			rs758642341,COSM3397435	15/33	.		ENST00000321322	Transcript			axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	ENSG00000177103	g.chr11:117342628C>T	14656			MODERATE		1.525	low	getma.org/?cm=msa&ty=f&p=DSCL1_HUMAN&rb=888&re=974&var=R970H	getma.org/pdb.php?prot=DSCL1_HUMAN&from=888&to=974&var=R970H	getma.org/?cm=var&var=hg19,11,117342628,C,T&fts=all	R970H	--	--	1																																			0,1	1		possibly_damaging(0.796)	p.R1030H	NM_020693	NP_065744		deleterious(0.02)	0,1	DSCL1_HUMAN	DSCAML1	HGNC	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)			15	3091	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	UPI00000726E2	970			Extracellular (Potential).|Fibronectin type-III 1.		SNV	DSCAML1,missense_variant,p.Arg1030His,ENST00000321322,NM_020693.2;DSCAML1,missense_variant,p.Arg760His,ENST00000527706,;	uc001prh.1	c.3089G>A	3091/6899	2	2			c.3089G>A						11	SNP	c.(3088-3090)CGC>CAC	47	47			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	Broad	Down syndrome cell adhesion molecule like 1			117342628		0.587	ENSG00000177103	4685	g.chr11:117342628C>T	axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity							251.153743	KEEP	55	32	-1	46	59	55	32	-1	251.354889	46	59	0.464481	1	0	0	0	0	1	0	0	0	--	--		0	T				218	GBM-28-5209-TP	p.R1030H	C	TGGTTCACTGCGGCCAATCTT	NM_020693	NP_065744	117342628	Q8TD84	DSCL1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	15	3091	-	T	T	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	Missense_Mutation	970			Extracellular (Potential).|Fibronectin type-III 1.			
DSE	0	broad.mit.edu	GRCh37	6	116720360	116720360	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A			TCGA-19-5954-01	TCGA-19-5954-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331677.3:c.-53-1G>A		p.X18_splice	ENST00000331677				0			1			A		uc003pws.2	protein_coding	YES	CCDS5107.1			-/2877									ovary(1)	1	c.e2-1				dermatan sulfate epimerase precursor				ENSP00000332151											COSM3410544		.		ENST00000331677	Transcript	1		dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	ENSG00000111817	g.chr6:116720360G>A	21144			HIGH	6-Feb							--	--	1																																		DSE_uc011ebf.1_Splice_Site|DSE_uc003pwq.1_Splice_Site|DSE_uc011ebg.1_Splice_Site_p.G2_splice|DSE_uc003pwt.2_Splice_Site	1	1				NM_001080976	NP_001074445			1	DSE_HUMAN	DSE	HGNC	Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	B3KY37_HUMAN		2	142	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	UPI0000073CB8						SNV	DSE,splice_acceptor_variant,,ENST00000331677,;DSE,splice_acceptor_variant,,ENST00000452085,NM_001080976.1;DSE,splice_acceptor_variant,,ENST00000359564,NM_013352.2;DSE,splice_acceptor_variant,,ENST00000537543,;DSE,splice_acceptor_variant,,ENST00000430252,;DSE,splice_acceptor_variant,,ENST00000540275,;DSE,splice_acceptor_variant,,ENST00000607094,;	uc003pws.2	c.-52_splice	-/7237	5	2			c.-52_splice						6	SNP	c.e2-1	36	36			ovary(1)	1	Broad	dermatan sulfate epimerase precursor			116720360		0.433	ENSG00000111817	4690	g.chr6:116720360G>A	dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity							64.018423	KEEP	9	13	-1	12	14	9	13	-1	64.255856	12	14	0.422222	1	0	0	0	0	0	0	0	1	--	--		0	A			DSE_uc011ebf.1_Splice_Site|DSE_uc003pwq.1_Splice_Site|DSE_uc011ebg.1_Splice_Site_p.G2_splice|DSE_uc003pwt.2_Splice_Site	174	GBM-19-5954-TP		G	ATCTCACGTAGGATCTTTCGA	NM_001080976	NP_001074445	116720360	Q9UL01	DSE_HUMAN	0		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	2	142	+	A	A		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	Splice_Site							
DSE	29940		GRCh37	6	116757126	116757126	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000331677.3:c.1495G>A	p.Val499Met	p.V499M	ENST00000331677		499	Gtg/Atg	0																																																																																																																																																																																																																																												
DSEL	0	broad.mit.edu	GRCh37	18	65181103	65181103	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-27-1832-01	TCGA-27-1832-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310045.7:c.773A>G	p.Asn258Ser	p.N258S	ENST00000310045	NM_032160.2	258	aAt/aGt	0			1			C	N/S	uc002lke.1	protein_coding	YES	CCDS11995.1			773/3669									ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6	c.(772-774)AAT>AGT			hmmpanther:PTHR15532,hmmpanther:PTHR15532:SF2	dermatan sulfate epimerase-like				ENSP00000310565		2-Feb									COSM3403625	2-Feb	.		ENST00000310045	Transcript				integral to membrane	isomerase activity|sulfotransferase activity	ENSG00000171451	g.chr18:65181103T>C	18144			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=DSEL_HUMAN&rb=201&re=400&var=N248S	NA	getma.org/?cm=var&var=hg19,18,65181103,T,C&fts=all	N248S	--	--	1																																			1	1		benign(0.009)	p.N258S	NM_032160	NP_115536		tolerated(0.85)	1	DSEL_HUMAN	DSEL	HGNC	Q8IZU8	DSEL_HUMAN					2	1997	-		Esophageal squamous(42;0.129)	UPI00000740A1	248					SNV	DSEL,missense_variant,p.Asn258Ser,ENST00000310045,NM_032160.2;RP11-638L3.1,upstream_gene_variant,,ENST00000583687,;CTD-2541J13.2,non_coding_transcript_exon_variant,,ENST00000583493,;CTD-2541J13.2,downstream_gene_variant,,ENST00000581951,;	uc002lke.1	c.773A>G	2247/9531	3	3			c.773A>G						18	SNP	c.(772-774)AAT>AGT	64	64			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6	Broad	dermatan sulfate epimerase-like			65181103		0.418	ENSG00000171451	4691	g.chr18:65181103T>C		integral to membrane	isomerase activity|sulfotransferase activity							214.343641	KEEP	48	29	-1	100	58	48	29	-1	219.960789	100	58	0.321608	1	0	0	0	0	1	0	0	0	--	--		0	C				191	GBM-27-1832-TP	p.N258S	T	TTTCCATATATTTGCTTTAGA	NM_032160	NP_115536	65181103	Q8IZU8	DSEL_HUMAN	0			2	1997	-	C	C		Esophageal squamous(42;0.129)	Missense_Mutation	248						
DSG1	1828	broad.mit.edu	GRCh37	18	28934664	28934664	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0750-01	TCGA-06-0750-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257192.4:c.2505C>T	p.Val835=	p.V835=	ENST00000257192	NM_001942.2	835	gtC/gtT	0			1			T	V	uc002kwp.2	protein_coding	YES	CCDS11896.1			2505/3150									skin(3)|ovary(2)|central_nervous_system(2)	7	c.(2503-2505)GTC>GTT			hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF9	desmoglein 1 preproprotein				ENSP00000257192		15/15									COSM3403510	15/15	.		ENST00000257192	Transcript	1		calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	ENSG00000134760	g.chr18:28934664C>T	3048			LOW								--	--	1																																		DSG1_uc010xbp.1_Silent_p.V194V	1	1			p.V835V	NM_001942	NP_001933			1	DSG1_HUMAN	DSG1	HGNC	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		B7Z845_HUMAN		15	2717	+			UPI000013CF4C	835			Desmoglein repeat 1.|Cytoplasmic (Potential).		SNV	DSG1,synonymous_variant,p.=,ENST00000257192,NM_001942.2;DSG1,synonymous_variant,p.=,ENST00000462981,;RP11-534N16.1,intron_variant,,ENST00000581856,;RP11-534N16.1,intron_variant,,ENST00000578477,;RP11-534N16.1,intron_variant,,ENST00000581452,;RP11-534N16.1,upstream_gene_variant,,ENST00000578119,;	uc002kwp.2	c.2505C>T	2717/5045	2	2			c.2505C>T						18	SNP	c.(2503-2505)GTC>GTT	45	45			skin(3)|ovary(2)|central_nervous_system(2)	7	Broad	desmoglein 1 preproprotein			28934664		0.512	ENSG00000134760	4692	g.chr18:28934664C>T	calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding							81.003809	KEEP	26	28	-1	145	180	26	28	-1	122.235408	145	180	0.148997	1	0	0	0	0	0	0	1	0	--	--		0	T			DSG1_uc010xbp.1_Silent_p.V194V	70	GBM-06-0750-TP	p.V835V	C	ATGGTAATGTCACTGTGACCG	NM_001942	NP_001933	28934664	Q02413	DSG1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		15	2717	+	T	T			Silent	835			Desmoglein repeat 1.|Cytoplasmic (Potential).			
DSG1	1828	broad.mit.edu	GRCh37	18	28913591	28913591	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5415-01	TCGA-06-5415-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257192.4:c.724C>T	p.Arg242Ter	p.R242*	ENST00000257192	NM_001942.2	242	Cga/Tga	0			1			T	R/*	uc002kwp.2	protein_coding	YES	CCDS11896.1			724/3150									skin(3)|ovary(2)|central_nervous_system(2)	7	c.(724-726)CGA>TGA			Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF9,SMART_domains:SM00112,Superfamily_domains:SSF49313	desmoglein 1 preproprotein				ENSP00000257192		15-Jul									COSM2153245	15-Jul	.		ENST00000257192	Transcript	1		calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	ENSG00000134760	g.chr18:28913591C>T	3048			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,18,28913591,C,T&fts=all	R242*	--	--	1																																			1	1			p.R242*	NM_001942	NP_001933			1	DSG1_HUMAN	DSG1	HGNC	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		B7Z845_HUMAN		7	936	+			UPI000013CF4C	242			Extracellular (Potential).|Cadherin 2.		SNV	DSG1,stop_gained,p.Arg242Ter,ENST00000257192,NM_001942.2;	uc002kwp.2	c.724C>T	936/5045	5	2			c.724C>T						18	SNP	c.(724-726)CGA>TGA	17	17			skin(3)|ovary(2)|central_nervous_system(2)	7	Broad	desmoglein 1 preproprotein			28913591		0.428	ENSG00000134760	4692	g.chr18:28913591C>T	calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding							141.463854	KEEP	15	37	-1	52	43	15	37	-1	144.005447	52	43	0.355072	1	0	0	0	0	0	1	0	0	--	--		0	T				98	GBM-06-5415-TP	p.R242*	C	AGGCTCTGACCGAGATGGCGG	NM_001942	NP_001933	28913591	Q02413	DSG1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		7	936	+	T	T			Nonsense_Mutation	242			Extracellular (Potential).|Cadherin 2.			
DSG1	1828	broad.mit.edu	GRCh37	18	28908192	28908192	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257192.4:c.257G>A	p.Arg86His	p.R86H	ENST00000257192	NM_001942.2	86	cGc/cAc	0			1			A	R/H	uc002kwp.2	protein_coding	YES	CCDS11896.1			257/3150									skin(3)|ovary(2)|central_nervous_system(2)	7	c.(256-258)CGC>CAC			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF9,SMART_domains:SM00112,Superfamily_domains:SSF49313	desmoglein 1 preproprotein				ENSP00000257192		15-Apr	2.47E-05			0.000116		3.00E-05			rs770916767,COSM184302	15-Apr	.		ENST00000257192	Transcript	1		calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	ENSG00000134760	g.chr18:28908192G>A	3048			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=DSG1_HUMAN&rb=54&re=148&var=R86H	getma.org/pdb.php?prot=DSG1_HUMAN&from=54&to=148&var=R86H	getma.org/?cm=var&var=hg19,18,28908192,G,A&fts=all	R86H	--	--	1																																			0,1	1		probably_damaging(0.932)	p.R86H	NM_001942	NP_001933		tolerated(0.1)	0,1	DSG1_HUMAN	DSG1	HGNC	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		B7Z845_HUMAN		4	469	+			UPI000013CF4C	86			Extracellular (Potential).|Cadherin 1.		SNV	DSG1,missense_variant,p.Arg86His,ENST00000257192,NM_001942.2;	uc002kwp.2	c.257G>A	469/5045	1	1			c.257G>A						18	SNP	c.(256-258)CGC>CAC	52	52			skin(3)|ovary(2)|central_nervous_system(2)	7	Broad	desmoglein 1 preproprotein			28908192		0.373	ENSG00000134760	4692	g.chr18:28908192G>A	calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding							141.621736	KEEP	22	33	-1	42	24	22	33	-1	141.829381	42	24	0.451923	1	0	0	0	0	1	0	0	0	--	--		0	A				102	GBM-06-5858-TP	p.R86H	G	GTTACATACCGCATCTCTGGA	NM_001942	NP_001933	28908192	Q02413	DSG1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		4	469	+	A	A			Missense_Mutation	86			Extracellular (Potential).|Cadherin 1.			
DSG2	1829	broad.mit.edu	GRCh37	18	29101206	29101206	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0210-01	TCGA-06-0210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261590.8:c.523C>T	p.His175Tyr	p.H175Y	ENST00000261590	NM_001943.3	175	Cat/Tat	0			1			T	H/Y	uc002kwu.3	protein_coding	YES	CCDS42423.1			523/3357									central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9	c.(523-525)CAT>TAT			PROSITE_profiles:PS50268,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF1,Pfam_domain:PF00028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313,Prints_domain:PR00205	desmoglein 2 preproprotein				ENSP00000261590		15-May	8.28E-06					1.52E-05			rs375422019,COSM2150698	15-May	.		ENST00000261590	Transcript	1		cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	ENSG00000046604	g.chr18:29101206C>T	3049			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=DSG2_HUMAN&rb=164&re=263&var=H175Y	getma.org/pdb.php?prot=DSG2_HUMAN&from=164&to=263&var=H175Y	getma.org/?cm=var&var=hg19,18,29101206,C,T&fts=all	H175Y	--	--	1																																			0,1	1		benign(0.011)	p.H175Y	NM_001943	NP_001934		tolerated(0.07)	0,1	DSG2_HUMAN	DSG2	HGNC	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)				5	711	+			UPI0000048E38	175			Extracellular (Potential).|Cadherin 2.		SNV	DSG2,missense_variant,p.His175Tyr,ENST00000261590,NM_001943.3;DSG2,missense_variant,p.His175Tyr,ENST00000585206,;	uc002kwu.3	c.523C>T	732/5831	1	1			c.523C>T						18	SNP	c.(523-525)CAT>TAT	8	8			central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9	Broad	desmoglein 2 preproprotein			29101206		0.333	ENSG00000046604	4693	g.chr18:29101206C>T	cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding							27.446523	KEEP	6	8	-1	35	25	6	8	-1	31.313999	35	25	0.22807	1	0	0	0	0	1	0	0	0	--	--		0	T				47	GBM-06-0210-TP	p.H175Y	C	GAGTGCAGCACGTAAGAGTCt	NM_001943	NP_001934	29101206	Q14126	DSG2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		5	711	+	T	T			Missense_Mutation	175			Extracellular (Potential).|Cadherin 2.			
DSG3	1830	broad.mit.edu	GRCh37	18	29056162	29056162	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01	TCGA-06-0185-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257189.4:c.2939C>T	p.Thr980Met	p.T980M	ENST00000257189	NM_001944.2	980	aCg/aTg	0			1			T	T/M	uc002kws.2	protein_coding	YES	CCDS11898.1			2939/3000									skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9	c.(2938-2940)ACG>ATG			hmmpanther:PTHR24025:SF3,hmmpanther:PTHR24025	desmoglein 3 preproprotein				ENSP00000257189		16/16									COSM2150541	16/16	.		ENST00000257189	Transcript			cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	ENSG00000134757	g.chr18:29056162C>T	3050			MODERATE		0.255	neutral	getma.org/?cm=msa&ty=f&p=DSG3_HUMAN&rb=863&re=999&var=T980M	NA	getma.org/?cm=var&var=hg19,18,29056162,C,T&fts=all	T980M	--	--	1																																		DSG3_uc002kwt.2_Missense_Mutation_p.T262M	1	1		benign(0.049)	p.T980M	NM_001944	NP_001935		tolerated(0.14)	1	DSG3_HUMAN	DSG3	HGNC	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)				16	3048	+			UPI000013CF4B	980			Cytoplasmic (Potential).		SNV	DSG3,missense_variant,p.Thr980Met,ENST00000257189,NM_001944.2;	uc002kws.2	c.2939C>T	3022/5525	1	1			c.2939C>T						18	SNP	c.(2938-2940)ACG>ATG	10	10			skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9	Broad	desmoglein 3 preproprotein			29056162		0.488	ENSG00000134757	4694	g.chr18:29056162C>T	cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding							257.506164	KEEP	68	39	-1	92	83	68	39	-1	260.532642	92	83	0.381148	1	0	0	0	0	1	0	0	0	--	--		0	T			DSG3_uc002kwt.2_Missense_Mutation_p.T262M	40	GBM-06-0185-TP	p.T980M	C	GCTGGCCCAACGCAGCTACGA	NM_001944	NP_001935	29056162	P32926	DSG3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		16	3048	+	T	T			Missense_Mutation	980			Cytoplasmic (Potential).			
DSG3	1830	broad.mit.edu	GRCh37	18	29052301	29052301	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs113457225		TCGA-06-0192-01	TCGA-06-0192-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257189.4:c.1952T>A	p.Val651Glu	p.V651E	ENST00000257189	NM_001944.2	651	gTg/gAg	0			1			A	V/E	uc002kws.2	protein_coding	YES	CCDS11898.1			1952/3000									skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9	c.(1951-1953)GTG>GAG			Low_complexity_(Seg):seg,hmmpanther:PTHR24025:SF3,hmmpanther:PTHR24025	desmoglein 3 preproprotein				ENSP00000257189		13/16									COSM3403515	13/16	.		ENST00000257189	Transcript			cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	ENSG00000134757	g.chr18:29052301T>A	3050			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=DSG3_HUMAN&rb=576&re=774&var=V651E	NA	getma.org/?cm=var&var=hg19,18,29052301,T,A&fts=all	V651E	--	--	1																																		DSG3_uc002kwt.2_5'Flank	1	1		possibly_damaging(0.556)	p.V651E	NM_001944	NP_001935		tolerated(0.06)	1	DSG3_HUMAN	DSG3	HGNC	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)				13	2061	+			UPI000013CF4B	651			Cytoplasmic (Potential).		SNV	DSG3,missense_variant,p.Val651Glu,ENST00000257189,NM_001944.2;	uc002kws.2	c.1952T>A	2035/5525	1	1			c.1952T>A						18	SNP	c.(1951-1953)GTG>GAG	52	52			skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9	Broad	desmoglein 3 preproprotein			29052301		0.478	ENSG00000134757	4694	g.chr18:29052301T>A	cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding							-20.793345	KEEP	2	2	-1	93	43	2	2	-1	7.984111	93	43	0.033058	1	0	0	0	0	1	0	0	0	--	--		0	A			DSG3_uc002kwt.2_5'Flank	44	GBM-06-0192-TP	p.V651E	T	ACTGGGGGAGTGACAGGTGGT	NM_001944	NP_001935	29052301	P32926	DSG3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		13	2061	+	A	A			Missense_Mutation	651			Cytoplasmic (Potential).			
DSG3	1830	broad.mit.edu	GRCh37	18	29038537	29038537	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs137884016	byFrequency	TCGA-06-0209-01	TCGA-06-0209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257189.4:c.346G>A	p.Asp116Asn	p.D116N	ENST00000257189	NM_001944.2	116	Gac/Aac	0	A:0.0002		1			A	D/N	uc002kws.2	protein_coding	YES	CCDS11898.1			346/3000									skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9	c.(346-348)GAC>AAC			PROSITE_profiles:PS50268,hmmpanther:PTHR24025:SF3,hmmpanther:PTHR24025,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	desmoglein 3 preproprotein			A:0.0001	ENSP00000257189		16-Apr	8.24E-05	9.63E-05	8.69E-05					0.000502	rs137884016,COSM3403511	16-Apr	common_variant		ENST00000257189	Transcript			cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	ENSG00000134757	g.chr18:29038537G>A	3050			MODERATE		3.585	high	getma.org/?cm=msa&ty=f&p=DSG3_HUMAN&rb=57&re=148&var=D116N	getma.org/pdb.php?prot=DSG3_HUMAN&from=57&to=148&var=D116N	getma.org/?cm=var&var=hg19,18,29038537,G,A&fts=all	D116N	--	--	1																																			0,1	1		possibly_damaging(0.6)	p.D116N	NM_001944	NP_001935		deleterious(0.01)	0,1	DSG3_HUMAN	DSG3	HGNC	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)				4	455	+			UPI000013CF4B	116			Extracellular (Potential).|Cadherin 1.		SNV	DSG3,missense_variant,p.Asp116Asn,ENST00000257189,NM_001944.2;	uc002kws.2	c.346G>A	429/5525	2	2			c.346G>A						18	SNP	c.(346-348)GAC>AAC	45	45			skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9	Broad	desmoglein 3 preproprotein			29038537		0.443	ENSG00000134757	4694	g.chr18:29038537G>A	cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding							16.929237	KEEP	7	9	-1	67	64	7	9	-1	35.184702	67	64	0.11811	1	0	0	0	0	1	0	0	0	--	--		0	A				46	GBM-06-0209-TP	p.D116N	G	AGCTATAGTCGACCGGGAGGA	NM_001944	NP_001935	29038537	P32926	DSG3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		4	455	+	A	A			Missense_Mutation	116			Extracellular (Potential).|Cadherin 1.			
DSG3	0	broad.mit.edu	GRCh37	18	29038467	29038467	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-14-0817-01	TCGA-14-0817-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257189.4:c.276C>A	p.Ile92=	p.I92=	ENST00000257189	NM_001944.2	92	atC/atA	0			1			A	I	uc002kws.2	protein_coding	YES	CCDS11898.1			276/3000									skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9	c.(274-276)ATC>ATA			PROSITE_profiles:PS50268,hmmpanther:PTHR24025:SF3,hmmpanther:PTHR24025,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	desmoglein 3 preproprotein				ENSP00000257189		16-Apr									COSM2154799	16-Apr	.		ENST00000257189	Transcript			cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	ENSG00000134757	g.chr18:29038467C>A	3050			LOW								--	--	1																																			1	1			p.I92I	NM_001944	NP_001935			1	DSG3_HUMAN	DSG3	HGNC	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)				4	385	+			UPI000013CF4B	92			Extracellular (Potential).|Cadherin 1.		SNV	DSG3,synonymous_variant,p.=,ENST00000257189,NM_001944.2;	uc002kws.2	c.276C>A	359/5525	1	1			c.276C>A						18	SNP	c.(274-276)ATC>ATA	61	61			skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9	Broad	desmoglein 3 preproprotein			29038467		0.438	ENSG00000134757	4694	g.chr18:29038467C>A	cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding							112.030533	KEEP	21	23	0.522727273	36	37	21	23	0.522727273	113.89535	36	37	0.358491	1	0	0	0	0	0	0	1	0	--	--		0	A				139	GBM-14-0817-TP	p.I92I	C	GAGTGGGAATCGATCAGCCGC	NM_001944	NP_001935	29038467	P32926	DSG3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		4	385	+	A	A			Silent	92			Extracellular (Potential).|Cadherin 1.			
DSG3	0	broad.mit.edu	GRCh37	18	29046572	29046572	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257189.4:c.1491C>T	p.Leu497=	p.L497=	ENST00000257189	NM_001944.2	497	ctC/ctT	0	T:0		1			T	L	uc002kws.2	protein_coding	YES	CCDS11898.1			1491/3000									skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9	c.(1489-1491)CTC>CTT			hmmpanther:PTHR24025:SF3,hmmpanther:PTHR24025	desmoglein 3 preproprotein			T:0.0001	ENSP00000257189		16-Nov	8.24E-06			0.000116					rs377026548,COSM3403514	16-Nov	.		ENST00000257189	Transcript			cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	ENSG00000134757	g.chr18:29046572C>T	3050			LOW								--	--	1																																			0,1	1			p.L497L	NM_001944	NP_001935			0,1	DSG3_HUMAN	DSG3	HGNC	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)				11	1600	+			UPI000013CF4B	497			Cadherin 4.|Extracellular (Potential).		SNV	DSG3,synonymous_variant,p.=,ENST00000257189,NM_001944.2;	uc002kws.2	c.1491C>T	1574/5525	1	1			c.1491C>T						18	SNP	c.(1489-1491)CTC>CTT	13	13			skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9	Broad	desmoglein 3 preproprotein			29046572		0.418	ENSG00000134757	4694	g.chr18:29046572C>T	cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding							271.988256	KEEP	58	40	-1	53	59	58	40	-1	272.290195	53	59	0.456522	1	0	0	0	0	0	0	1	0	--	--		0	T				159	GBM-19-1390-TP	p.L497L	C	CAGCTGTCCTCGAAAAAGATG	NM_001944	NP_001935	29046572	P32926	DSG3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		11	1600	+	T	T			Silent	497			Cadherin 4.|Extracellular (Potential).			
DSG3	0	broad.mit.edu	GRCh37	18	29052357	29052357	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-5134-01	TCGA-26-5134-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257189.4:c.2008G>A	p.Gly670Arg	p.G670R	ENST00000257189	NM_001944.2	670	Gga/Aga	0			1			A	G/R	uc002kws.2	protein_coding	YES	CCDS11898.1			2008/3000									skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9	c.(2008-2010)GGA>AGA			hmmpanther:PTHR24025:SF3,hmmpanther:PTHR24025	desmoglein 3 preproprotein				ENSP00000257189		13/16	1.65E-05			0.000231					rs768732577,COSM1661574	13/16	.		ENST00000257189	Transcript			cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	ENSG00000134757	g.chr18:29052357G>A	3050			MODERATE		1.2	low	getma.org/?cm=msa&ty=f&p=DSG3_HUMAN&rb=576&re=774&var=G670R	NA	getma.org/?cm=var&var=hg19,18,29052357,G,A&fts=all	G670R	--	--	1																																		DSG3_uc002kwt.2_5'Flank	0,1	1		possibly_damaging(0.856)	p.G670R	NM_001944	NP_001935		tolerated(0.3)	0,1	DSG3_HUMAN	DSG3	HGNC	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)				13	2117	+			UPI000013CF4B	670			Cytoplasmic (Potential).		SNV	DSG3,missense_variant,p.Gly670Arg,ENST00000257189,NM_001944.2;	uc002kws.2	c.2008G>A	2091/5525	2	2			c.2008G>A						18	SNP	c.(2008-2010)GGA>AGA	48	48			skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9	Broad	desmoglein 3 preproprotein			29052357		0.428	ENSG00000134757	4694	g.chr18:29052357G>A	cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding							171.086142	KEEP	26	26	-1	32	39	26	26	-1	171.497642	32	39	0.436975	1	0	0	0	0	1	0	0	0	--	--		0	A			DSG3_uc002kwt.2_5'Flank	183	GBM-26-5134-TP	p.G670R	G	TCATCAGTGGGGAATTGAAGG	NM_001944	NP_001935	29052357	P32926	DSG3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		13	2117	+	A	A			Missense_Mutation	670			Cytoplasmic (Potential).			
DSG3	0	broad.mit.edu	GRCh37	18	29054117	29054117	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01	TCGA-27-1830-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257189.4:c.2135C>T	p.Ala712Val	p.A712V	ENST00000257189	NM_001944.2	712	gCg/gTg	0			1			T	A/V	uc002kws.2	protein_coding	YES	CCDS11898.1			2135/3000									skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9	c.(2134-2136)GCG>GTG			hmmpanther:PTHR24025:SF3,hmmpanther:PTHR24025	desmoglein 3 preproprotein				ENSP00000257189		15/16	4.94E-05							0.000364	rs768429518,COSM3403517	15/16	.		ENST00000257189	Transcript			cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	ENSG00000134757	g.chr18:29054117C>T	3050			MODERATE		-1.78	neutral	getma.org/?cm=msa&ty=f&p=DSG3_HUMAN&rb=576&re=774&var=A712V	NA	getma.org/?cm=var&var=hg19,18,29054117,C,T&fts=all	A712V	--	--	1																																		DSG3_uc002kwt.2_5'UTR	0,1	1		benign(0)	p.A712V	NM_001944	NP_001935		tolerated(1)	0,1	DSG3_HUMAN	DSG3	HGNC	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)				15	2244	+			UPI000013CF4B	712			Cytoplasmic (Potential).		SNV	DSG3,missense_variant,p.Ala712Val,ENST00000257189,NM_001944.2;	uc002kws.2	c.2135C>T	2218/5525	2	2			c.2135C>T						18	SNP	c.(2134-2136)GCG>GTG	32	32			skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9	Broad	desmoglein 3 preproprotein			29054117		0.443	ENSG00000134757	4694	g.chr18:29054117C>T	cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding							59.818924	KEEP	14	17	-1	60	58	14	17	-1	69.747842	60	58	0.21374	1	0	0	0	0	1	0	0	0	--	--		0	T			DSG3_uc002kwt.2_5'UTR	189	GBM-27-1830-TP	p.A712V	C	AGAGGCACAGCGGTGGAAGGC	NM_001944	NP_001935	29054117	P32926	DSG3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		15	2244	+	T	T			Missense_Mutation	712			Cytoplasmic (Potential).			
DSG3	0	broad.mit.edu	GRCh37	18	29052349	29052349	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-5216-01	TCGA-28-5216-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257189.4:c.2000A>G	p.His667Arg	p.H667R	ENST00000257189	NM_001944.2	667	cAt/cGt	0		G:0	1	G:0.0014		G	H/R	uc002kws.2	protein_coding	YES	CCDS11898.1			2000/3000									skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9	c.(1999-2001)CAT>CGT			hmmpanther:PTHR24025:SF3,hmmpanther:PTHR24025	desmoglein 3 preproprotein		G:0		ENSP00000257189	G:0	13/16	8.24E-06		8.66E-05						rs574305228,COSM3403516	13/16	.		ENST00000257189	Transcript		G:0.0002	cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	ENSG00000134757	g.chr18:29052349A>G	3050			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=DSG3_HUMAN&rb=576&re=774&var=H667R	NA	getma.org/?cm=var&var=hg19,18,29052349,A,G&fts=all	H667R	--	--	1																																		DSG3_uc002kwt.2_5'Flank	0,1	1		benign(0.025)	p.H667R	NM_001944	NP_001935	G:0	tolerated(0.29)	0,1	DSG3_HUMAN	DSG3	HGNC	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)				13	2109	+			UPI000013CF4B	667			Cytoplasmic (Potential).		SNV	DSG3,missense_variant,p.His667Arg,ENST00000257189,NM_001944.2;	uc002kws.2	c.2000A>G	2083/5525	4	4			c.2000A>G						18	SNP	c.(1999-2001)CAT>CGT	30	30			skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9	Broad	desmoglein 3 preproprotein			29052349		0.448	ENSG00000134757	4694	g.chr18:29052349A>G	cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding							57.743097	KEEP	16	9	-1	56	51	16	9	-1	69.014969	56	51	0.190476	1	0	0	0	0	1	0	0	0	--	--		0	G			DSG3_uc002kwt.2_5'Flank	223	GBM-28-5216-TP	p.H667R	A	GGAACAATTCATCAGTGGGGA	NM_001944	NP_001935	29052349	P32926	DSG3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		13	2109	+	G	G			Missense_Mutation	667			Cytoplasmic (Potential).			
DSG3	1830		GRCh37	18	29039054	29039054	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000257189.4:c.431C>T	p.Thr144Met	p.T144M	ENST00000257189	NM_001944.2	144	aCg/aTg	0																																																																																																																																																																																																																																												
DSG3	1830		GRCh37	18	29046498	29046498	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000257189.4:c.1417A>T	p.Thr473Ser	p.T473S	ENST00000257189	NM_001944.2	473	Acg/Tcg	0																																																																																																																																																																																																																																												
DSG4	0	broad.mit.edu	GRCh37	18	28991295	28991295	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01	TCGA-19-5952-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308128.4:c.2239G>A	p.Ala747Thr	p.A747T	ENST00000308128	NM_177986.3	747	Gca/Aca	0			1			A	A/T	uc002kwq.2	protein_coding		CCDS11897.1			2239/3123									central_nervous_system(5)|ovary(3)	8	c.(2239-2241)GCA>ACA			hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF10,Low_complexity_(Seg):seg	desmoglein 4 isoform 2 preproprotein				ENSP00000311859		15/16									COSM563556,COSM563555	15/16	.		ENST00000308128	Transcript	1		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	ENSG00000175065	g.chr18:28991295G>A	21307			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=DSG4_HUMAN&rb=689&re=757&var=A747T	NA	getma.org/?cm=var&var=hg19,18,28991295,G,A&fts=all	A747T	--	--	1																																		DSG4_uc002kwr.2_Missense_Mutation_p.A766T	1,1			benign(0.003)	p.A747T	NM_177986	NP_817123		tolerated(0.59)	1,1	DSG4_HUMAN	DSG4	HGNC	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)				15	2374	+			UPI0000062276	747			Cytoplasmic (Potential).		SNV	DSG4,missense_variant,p.Ala766Thr,ENST00000359747,NM_001134453.1;DSG4,missense_variant,p.Ala747Thr,ENST00000308128,NM_177986.3;RP11-534N16.1,intron_variant,,ENST00000581856,;RP11-534N16.1,intron_variant,,ENST00000578477,;	uc002kwq.2	c.2239G>A	2374/3579	2	2			c.2239G>A						18	SNP	c.(2239-2241)GCA>ACA	41	41			central_nervous_system(5)|ovary(3)	8	Broad	desmoglein 4 isoform 2 preproprotein			28991295		0.473	ENSG00000175065	4695	g.chr18:28991295G>A	homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding							89.959412	KEEP	17	18	-1	32	32	17	18	-1	91.792511	32	32	0.351064	1	0	0	0	0	1	0	0	0	--	--		0	A			DSG4_uc002kwr.2_Missense_Mutation_p.A766T	172	GBM-19-5952-TP	p.A747T	G	CCTCATggccgcaggggccgc	NM_177986	NP_817123	28991295	Q86SJ6	DSG4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		15	2374	+	A	A			Missense_Mutation	747			Cytoplasmic (Potential).			
DSG4	0	broad.mit.edu	GRCh37	18	28968937	28968937	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01	TCGA-26-5135-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308128.4:c.473C>T	p.Ser158Leu	p.S158L	ENST00000308128	NM_177986.3	158	tCg/tTg	0	T:0		1			T	S/L	uc002kwq.2	protein_coding		CCDS11897.1			473/3123									central_nervous_system(5)|ovary(3)	8	c.(472-474)TCG>TTG			Gene3D:2.60.40.60,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF10,Superfamily_domains:SSF49313	desmoglein 4 isoform 2 preproprotein			T:0.0001	ENSP00000311859		16-May	1.65E-05					3.00E-05			rs369555342,COSM172483,COSM987560	16-May	.		ENST00000308128	Transcript	1		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	ENSG00000175065	g.chr18:28968937C>T	21307			MODERATE		2.115	medium	getma.org/?cm=msa&ty=f&p=DSG4_HUMAN&rb=158&re=269&var=S158L	getma.org/pdb.php?prot=DSG4_HUMAN&from=158&to=269&var=S158L	getma.org/?cm=var&var=hg19,18,28968937,C,T&fts=all	S158L	--	--	1																																		DSG4_uc002kwr.2_Missense_Mutation_p.S158L	0,1,1			benign(0.161)	p.S158L	NM_177986	NP_817123		deleterious(0)	0,1,1	DSG4_HUMAN	DSG4	HGNC	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)				5	608	+			UPI0000062276	158		Missing (in LAH1).	Cadherin 2.|Extracellular (Potential).		SNV	DSG4,missense_variant,p.Ser158Leu,ENST00000359747,NM_001134453.1;DSG4,missense_variant,p.Ser158Leu,ENST00000308128,NM_177986.3;RP11-534N16.1,intron_variant,,ENST00000581856,;RP11-534N16.1,intron_variant,,ENST00000578477,;RP11-534N16.1,intron_variant,,ENST00000581452,;	uc002kwq.2	c.473C>T	608/3579	1	1			c.473C>T						18	SNP	c.(472-474)TCG>TTG	1	1			central_nervous_system(5)|ovary(3)	8	Broad	desmoglein 4 isoform 2 preproprotein			28968937		0.413	ENSG00000175065	4695	g.chr18:28968937C>T	homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding							304.0808	KEEP	60	53	-1	65	90	60	53	-1	305.233256	65	90	0.42623	1	0	0	0	0	1	0	0	0	--	--		0	T			DSG4_uc002kwr.2_Missense_Mutation_p.S158L	184	GBM-26-5135-TP	p.S158L	C	CCAGTCTTTTCGCAAAGTGTA	NM_177986	NP_817123	28968937	Q86SJ6	DSG4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		5	608	+	T	T			Missense_Mutation	158		Missing (in LAH1).	Cadherin 2.|Extracellular (Potential).			
DSG4	0	broad.mit.edu	GRCh37	18	28989414	28989414	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A			TCGA-26-5139-01	TCGA-26-5139-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308128.4:c.1934-1G>A		p.X645_splice	ENST00000308128	NM_177986.3			0			1			A		uc002kwq.2	protein_coding		CCDS11897.1			1934/3123									central_nervous_system(5)|ovary(3)	8	c.e13-1				desmoglein 4 isoform 2 preproprotein				ENSP00000311859											COSM2157199,COSM2157198		.		ENST00000308128	Transcript	1		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	ENSG00000175065	g.chr18:28989414G>A	21307			HIGH	15-Dec							--	--	1																																		DSG4_uc002kwr.2_Splice_Site_p.L645_splice	1,1				p.L645_splice	NM_177986	NP_817123			1,1	DSG4_HUMAN	DSG4	HGNC	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)				13	2069	+			UPI0000062276						SNV	DSG4,splice_acceptor_variant,,ENST00000359747,NM_001134453.1;DSG4,splice_acceptor_variant,,ENST00000308128,NM_177986.3;RP11-534N16.1,intron_variant,,ENST00000581856,;RP11-534N16.1,intron_variant,,ENST00000578477,;	uc002kwq.2	c.1934_splice	-/3579	5	2			c.1934_splice						18	SNP	c.e13-1	33	33			central_nervous_system(5)|ovary(3)	8	Broad	desmoglein 4 isoform 2 preproprotein			28989414		0.498	ENSG00000175065	4695	g.chr18:28989414G>A	homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding							307.247136	KEEP	70	56	-1	104	91	70	56	-1	308.977406	104	91	0.414179	1	0	0	0	0	0	0	0	1	--	--		0	A			DSG4_uc002kwr.2_Splice_Site_p.L645_splice	186	GBM-26-5139-TP	p.L645_splice	G	TTCTTGGGCAGTGGCTCCACT	NM_177986	NP_817123	28989414	Q86SJ6	DSG4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		13	2069	+	A	A			Splice_Site							
DSG4	0	broad.mit.edu	GRCh37	18	28993484	28993484	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308128.4:c.3049G>A	p.Val1017Ile	p.V1017I	ENST00000308128	NM_177986.3	1017	Gtt/Att	0		A:0	1	A:0.0014		A	V/I	uc002kwq.2	protein_coding		CCDS11897.1			3049/3123									central_nervous_system(5)|ovary(3)	8	c.(3049-3051)GTT>ATT			hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF10	desmoglein 4 isoform 2 preproprotein		A:0.001		ENSP00000311859	A:0	16/16	9.06E-05		8.64E-05	0.000462		7.50E-05		6.08E-05	rs186256193,COSM1582369,COSM1582368	16/16	common_variant		ENST00000308128	Transcript	1	A:0.0004	homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	ENSG00000175065	g.chr18:28993484G>A	21307			MODERATE		-1.39	neutral	getma.org/?cm=msa&ty=f&p=DSG4_HUMAN&rb=851&re=1040&var=V1017I	NA	getma.org/?cm=var&var=hg19,18,28993484,G,A&fts=all	V1017I	--	--	1																																		DSG4_uc002kwr.2_Missense_Mutation_p.V1036I	0,1,1			benign(0)	p.V1017I	NM_177986	NP_817123	A:0	tolerated(1)	0,1,1	DSG4_HUMAN	DSG4	HGNC	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)				16	3184	+			UPI0000062276	1017			Cytoplasmic (Potential).		SNV	DSG4,missense_variant,p.Val1036Ile,ENST00000359747,NM_001134453.1;DSG4,missense_variant,p.Val1017Ile,ENST00000308128,NM_177986.3;RP11-534N16.1,intron_variant,,ENST00000581856,;RP11-534N16.1,intron_variant,,ENST00000578477,;	uc002kwq.2	c.3049G>A	3184/3579	2	2			c.3049G>A						18	SNP	c.(3049-3051)GTT>ATT	26	26			central_nervous_system(5)|ovary(3)	8	Broad	desmoglein 4 isoform 2 preproprotein			28993484		0.453	ENSG00000175065	4695	g.chr18:28993484G>A	homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding							293.346209	KEEP	56	45	-1	24	18	56	45	-1	297.776676	24	18	0.698413	1	0	0	0	0	1	0	0	0	--	--		0	A			DSG4_uc002kwr.2_Missense_Mutation_p.V1036I	197	GBM-27-1838-TP	p.V1017I	G	AGGCCAAACCGTTGGCTCCAC	NM_177986	NP_817123	28993484	Q86SJ6	DSG4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		16	3184	+	A	A			Missense_Mutation	1017			Cytoplasmic (Potential).			
DSP	1832	broad.mit.edu	GRCh37	6	7569463	7569463	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2558-01	TCGA-06-2558-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379802.3:c.1464C>T	p.Asn488=	p.N488=	ENST00000379802	NM_004415.2	488	aaC/aaT	0			1			T	N	uc003mxp.1	protein_coding	YES	CCDS4501.1			1464/8616									central_nervous_system(6)|ovary(2)|skin(1)	9	c.(1462-1464)AAC>AAT			hmmpanther:PTHR11915:SF234,hmmpanther:PTHR11915	desmoplakin isoform I				ENSP00000369129		24-Dec	1.65E-05			0.000116		1.50E-05			rs768526275,COSM2152618	24-Dec	.		ENST00000379802	Transcript	1		cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	ENSG00000096696	g.chr6:7569463C>T	3052			LOW								--	--	1																																		DSP_uc003mxq.1_Silent_p.N488N	0,1	1			p.N488N	NM_004415	NP_004406			0,1	DESP_HUMAN	DSP	HGNC	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	G1UI31_HUMAN,B4DKX6_HUMAN		12	1743	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	UPI000013C67F	488			Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		SNV	DSP,synonymous_variant,p.=,ENST00000379802,NM_004415.2;DSP,synonymous_variant,p.=,ENST00000418664,NM_001008844.1;DSP,downstream_gene_variant,,ENST00000506617,;	uc003mxp.1	c.1464C>T	1805/9796	2	2			c.1464C>T						6	SNP	c.(1462-1464)AAC>AAT	18	18			central_nervous_system(6)|ovary(2)|skin(1)	9	Broad	desmoplakin isoform I			7569463		0.527	ENSG00000096696	4697	g.chr6:7569463C>T	cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton							108.590763	KEEP	25	18	-1	54	57	25	18	-1	113.691552	54	57	0.297101	1	0	0	0	0	0	0	1	0	--	--		0	T			DSP_uc003mxq.1_Silent_p.N488N	82	GBM-06-2558-TP	p.N488N	C	AGGACAACAACGAGCGCAGCA	NM_004415	NP_004406	7569463	P15924	DESP_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	12	1743	+	T	T	Ovarian(93;0.0584)	all_hematologic(90;0.236)	Silent	488			Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.			
DSP	1832	broad.mit.edu	GRCh37	6	7569486	7569486	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01	TCGA-06-2567-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379802.3:c.1487C>T	p.Thr496Met	p.T496M	ENST00000379802	NM_004415.2	496	aCg/aTg	0	T:0		1			T	T/M	uc003mxp.1	protein_coding	YES	CCDS4501.1			1487/8616									central_nervous_system(6)|ovary(2)|skin(1)	9	c.(1486-1488)ACG>ATG			hmmpanther:PTHR11915:SF234,hmmpanther:PTHR11915	desmoplakin isoform I			T:0.0001	ENSP00000369129		24-Dec	2.47E-05					4.50E-05			rs374283517,COSM2153092	24-Dec	.		ENST00000379802	Transcript	1		cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	ENSG00000096696	g.chr6:7569486C>T	3052			MODERATE		1.405	low	getma.org/?cm=msa&ty=f&p=DESP_HUMAN&rb=447&re=515&var=T496M	getma.org/pdb.php?prot=DESP_HUMAN&from=447&to=515&var=T496M	getma.org/?cm=var&var=hg19,6,7569486,C,T&fts=all	T496M	--	--	1																																		DSP_uc003mxq.1_Missense_Mutation_p.T496M	0,1	1		probably_damaging(0.97)	p.T496M	NM_004415	NP_004406			0,1	DESP_HUMAN	DSP	HGNC	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	G1UI31_HUMAN,B4DKX6_HUMAN		12	1766	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	UPI000013C67F	496			Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		SNV	DSP,missense_variant,p.Thr496Met,ENST00000379802,NM_004415.2;DSP,missense_variant,p.Thr496Met,ENST00000418664,NM_001008844.1;DSP,downstream_gene_variant,,ENST00000506617,;	uc003mxp.1	c.1487C>T	1828/9796	1	1			c.1487C>T						6	SNP	c.(1486-1488)ACG>ATG	10	10			central_nervous_system(6)|ovary(2)|skin(1)	9	Broad	desmoplakin isoform I			7569486		0.552	ENSG00000096696	4697	g.chr6:7569486C>T	cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton							158.97737	KEEP	26	33	-1	54	51	26	33	-1	161.283259	54	51	0.368421	1	0	0	0	0	1	0	0	0	--	--		0	T			DSP_uc003mxq.1_Missense_Mutation_p.T496M	89	GBM-06-2567-TP	p.T496M	C	TGGTACGTGACGGGCCCGGGA	NM_004415	NP_004406	7569486	P15924	DESP_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	12	1766	+	T	T	Ovarian(93;0.0584)	all_hematologic(90;0.236)	Missense_Mutation	496			Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.			
DSP	0	broad.mit.edu	GRCh37	6	7585169	7585169	+	synonymous_variant	Silent	SNP	T	T	A			TCGA-14-0813-01	TCGA-14-0813-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379802.3:c.7674T>A	p.Ala2558=	p.A2558=	ENST00000379802	NM_004415.2	2558	gcT/gcA	0			1			A	A	uc003mxp.1	protein_coding	YES	CCDS4501.1			7674/8616									central_nervous_system(6)|ovary(2)|skin(1)	9	c.(7672-7674)GCT>GCA			Superfamily_domains:SSF75399,Gene3D:3.90.1290.10,hmmpanther:PTHR11915:SF234,hmmpanther:PTHR11915	desmoplakin isoform I				ENSP00000369129		24/24									COSM3411285	24/24	.		ENST00000379802	Transcript	1		cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	ENSG00000096696	g.chr6:7585169T>A	3052			LOW								--	--	1																																		DSP_uc003mxq.1_Silent_p.A1959A	1	1			p.A2558A	NM_004415	NP_004406			1	DESP_HUMAN	DSP	HGNC	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	G1UI31_HUMAN,B4DKX6_HUMAN		24	7953	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	UPI000013C67F	2558			Globular 2.		SNV	DSP,synonymous_variant,p.=,ENST00000379802,NM_004415.2;DSP,synonymous_variant,p.=,ENST00000418664,NM_001008844.1;	uc003mxp.1	c.7674T>A	8015/9796	1	1			c.7674T>A						6	SNP	c.(7672-7674)GCT>GCA	50	50			central_nervous_system(6)|ovary(2)|skin(1)	9	Broad	desmoplakin isoform I			7585169		0.478	ENSG00000096696	4697	g.chr6:7585169T>A	cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton							-6.901235	KEEP	5	3	-1	77	48	5	3	-1	16.465929	77	48	0.066667	1	0	0	0	0	0	0	1	0	--	--		0	A			DSP_uc003mxq.1_Silent_p.A1959A	138	GBM-14-0813-TP	p.A2558A	T	CTCAATTTGCTGACATGATCT	NM_004415	NP_004406	7585169	P15924	DESP_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	7953	+	A	A	Ovarian(93;0.0584)	all_hematologic(90;0.236)	Silent	2558			Globular 2.			
DSP	0	broad.mit.edu	GRCh37	6	7584664	7584664	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-5951-01	TCGA-19-5951-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379802.3:c.7169T>C	p.Ile2390Thr	p.I2390T	ENST00000379802	NM_004415.2	2390	aTa/aCa	0			1			C	I/T	uc003mxp.1	protein_coding	YES	CCDS4501.1			7169/8616									central_nervous_system(6)|ovary(2)|skin(1)	9	c.(7168-7170)ATA>ACA			Superfamily_domains:SSF75399,SMART_domains:SM00250,Pfam_domain:PF00681,Gene3D:3.90.1290.10,hmmpanther:PTHR11915:SF234,hmmpanther:PTHR11915	desmoplakin isoform I				ENSP00000369129		24/24									rs779025714,COSM2156615	24/24	.		ENST00000379802	Transcript	1		cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	ENSG00000096696	g.chr6:7584664T>C	3052			MODERATE		0.205	neutral	getma.org/?cm=msa&ty=f&p=DESP_HUMAN&rb=2365&re=2409&var=I2390T	getma.org/pdb.php?prot=DESP_HUMAN&from=2365&to=2409&var=I2390T	getma.org/?cm=var&var=hg19,6,7584664,T,C&fts=all	I2390T	--	--	1																																		DSP_uc003mxq.1_Missense_Mutation_p.I1791T	0,1	1		benign(0.004)	p.I2390T	NM_004415	NP_004406			0,1	DESP_HUMAN	DSP	HGNC	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	G1UI31_HUMAN,B4DKX6_HUMAN		24	7448	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	UPI000013C67F	2390			Plectin 10.|Globular 2.		SNV	DSP,missense_variant,p.Ile2390Thr,ENST00000379802,NM_004415.2;DSP,missense_variant,p.Ile1791Thr,ENST00000418664,NM_001008844.1;	uc003mxp.1	c.7169T>C	7510/9796	4	4			c.7169T>C						6	SNP	c.(7168-7170)ATA>ACA	41	41			central_nervous_system(6)|ovary(2)|skin(1)	9	Broad	desmoplakin isoform I			7584664		0.443	ENSG00000096696	4697	g.chr6:7584664T>C	cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton							125.855488	KEEP	15	26	-1	33	36	15	26	-1	127.338121	33	36	0.37	1	0	0	0	0	1	0	0	0	--	--		0	C			DSP_uc003mxq.1_Missense_Mutation_p.I1791T	171	GBM-19-5951-TP	p.I2390T	T	CCAGTTGACATAGCATATAAG	NM_004415	NP_004406	7584664	P15924	DESP_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	7448	+	C	C	Ovarian(93;0.0584)	all_hematologic(90;0.236)	Missense_Mutation	2390			Plectin 10.|Globular 2.			
DSP	0	broad.mit.edu	GRCh37	6	7583937	7583937	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs144539278		TCGA-27-2527-01	TCGA-27-2527-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379802.3:c.6442G>A	p.Ala2148Thr	p.A2148T	ENST00000379802	NM_004415.2	2148	Gcc/Acc	0	A:0.0005		1			A	A/T	uc003mxp.1	protein_coding	YES	CCDS4501.1			6442/8616									central_nervous_system(6)|ovary(2)|skin(1)	9	c.(6442-6444)GCC>ACC			Superfamily_domains:SSF75399,SMART_domains:SM00250,Pfam_domain:PF00681,Gene3D:3.90.1290.10,hmmpanther:PTHR11915:SF234,hmmpanther:PTHR11915	desmoplakin isoform I			A:0	ENSP00000369129		24/24	1.65E-05	9.72E-05						6.07E-05	rs144539278,COSM2157298	24/24	.		ENST00000379802	Transcript	1		cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	ENSG00000096696	g.chr6:7583937G>A	3052			MODERATE		2.975	medium	getma.org/?cm=msa&ty=f&p=DESP_HUMAN&rb=2122&re=2166&var=A2148T	getma.org/pdb.php?prot=DESP_HUMAN&from=2122&to=2166&var=A2148T	getma.org/?cm=var&var=hg19,6,7583937,G,A&fts=all	A2148T	--	--	1																																		DSP_uc003mxq.1_Missense_Mutation_p.A1549T	0,1	1		probably_damaging(0.999)	p.A2148T	NM_004415	NP_004406			0,1	DESP_HUMAN	DSP	HGNC	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	G1UI31_HUMAN,B4DKX6_HUMAN		24	6721	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	UPI000013C67F	2148			Plectin 4.|Globular 2.		SNV	DSP,missense_variant,p.Ala2148Thr,ENST00000379802,NM_004415.2;DSP,missense_variant,p.Ala1549Thr,ENST00000418664,NM_001008844.1;	uc003mxp.1	c.6442G>A	6783/9796	1	1			c.6442G>A						6	SNP	c.(6442-6444)GCC>ACC	58	58			central_nervous_system(6)|ovary(2)|skin(1)	9	Broad	desmoplakin isoform I			7583937		0.478	ENSG00000096696	4697	g.chr6:7583937G>A	cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton							79.401864	KEEP	23	13	-1	49	67	23	13	-1	89.294404	49	67	0.22973	1	0	0	0	0	1	0	0	0	--	--		0	A			DSP_uc003mxq.1_Missense_Mutation_p.A1549T	204	GBM-27-2527-TP	p.A2148T	G	AAAAGATGTCGCCTTGGCCCG	NM_004415	NP_004406	7583937	P15924	DESP_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	6721	+	A	A	Ovarian(93;0.0584)	all_hematologic(90;0.236)	Missense_Mutation	2148			Plectin 4.|Globular 2.			
DSP	0	broad.mit.edu	GRCh37	6	7582878	7582878	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-2491-01	TCGA-32-2491-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379802.3:c.5383T>C	p.Ser1795Pro	p.S1795P	ENST00000379802	NM_004415.2	1795	Tct/Cct	0			1			C	S/P	uc003mxp.1	protein_coding	YES	CCDS4501.1			5383/8616									central_nervous_system(6)|ovary(2)|skin(1)	9	c.(5383-5385)TCT>CCT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915:SF234,hmmpanther:PTHR11915	desmoplakin isoform I				ENSP00000369129		24/24									COSM3411281	24/24	.		ENST00000379802	Transcript	1		cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	ENSG00000096696	g.chr6:7582878T>C	3052			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=DESP_HUMAN&rb=1162&re=1949&var=S1795P	NA	getma.org/?cm=var&var=hg19,6,7582878,T,C&fts=all	S1795P	--	--	1																																		DSP_uc003mxq.1_Missense_Mutation_p.S1196P	1	1		probably_damaging(0.993)	p.S1795P	NM_004415	NP_004406			1	DESP_HUMAN	DSP	HGNC	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	G1UI31_HUMAN,B4DKX6_HUMAN		24	5662	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	UPI000013C67F	1795			Central fibrous rod domain.|Potential.		SNV	DSP,missense_variant,p.Ser1795Pro,ENST00000379802,NM_004415.2;DSP,missense_variant,p.Ser1196Pro,ENST00000418664,NM_001008844.1;	uc003mxp.1	c.5383T>C	5724/9796	3	3			c.5383T>C						6	SNP	c.(5383-5385)TCT>CCT	1	1			central_nervous_system(6)|ovary(2)|skin(1)	9	Broad	desmoplakin isoform I			7582878		0.353	ENSG00000096696	4697	g.chr6:7582878T>C	cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton							-24.478886	KEEP	2	1	-1	73	55	2	1	-1	6.409996	73	55	0.02439	1	0	0	0	0	1	0	0	0	--	--		0	C			DSP_uc003mxq.1_Missense_Mutation_p.S1196P	235	GBM-32-2491-TP	p.S1795P	T	ATTCCAGGCATCTAATAGGAT	NM_004415	NP_004406	7582878	P15924	DESP_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	5662	+	C	C	Ovarian(93;0.0584)	all_hematologic(90;0.236)	Missense_Mutation	1795			Central fibrous rod domain.|Potential.			
DSP	0	broad.mit.edu	GRCh37	6	7565623	7565623	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-87-5896-01	TCGA-87-5896-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379802.3:c.809G>A	p.Arg270Gln	p.R270Q	ENST00000379802	NM_004415.2	270	cGa/cAa	0			1			A	R/Q	uc003mxp.1	protein_coding	YES	CCDS4501.1			809/8616									central_nervous_system(6)|ovary(2)|skin(1)	9	c.(808-810)CGA>CAA			Superfamily_domains:SSF46966,SMART_domains:SM00150,hmmpanther:PTHR11915:SF234,hmmpanther:PTHR11915	desmoplakin isoform I				ENSP00000369129		24-Jul									COSM3411276	24-Jul	.		ENST00000379802	Transcript	1		cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	ENSG00000096696	g.chr6:7565623G>A	3052			MODERATE		0.51	neutral	getma.org/?cm=msa&ty=f&p=DESP_HUMAN&rb=201&re=400&var=R270Q	getma.org/pdb.php?prot=DESP_HUMAN&from=201&to=400&var=R270Q	getma.org/?cm=var&var=hg19,6,7565623,G,A&fts=all	R270Q	--	--	1																																		DSP_uc003mxq.1_Missense_Mutation_p.R270Q	1	1		probably_damaging(0.964)	p.R270Q	NM_004415	NP_004406			1	DESP_HUMAN	DSP	HGNC	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	G1UI31_HUMAN,B4DKX6_HUMAN		7	1088	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	UPI000013C67F	270			Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		SNV	DSP,missense_variant,p.Arg270Gln,ENST00000379802,NM_004415.2;DSP,missense_variant,p.Arg270Gln,ENST00000418664,NM_001008844.1;DSP,non_coding_transcript_exon_variant,,ENST00000506617,;	uc003mxp.1	c.809G>A	1150/9796	2	2			c.809G>A						6	SNP	c.(808-810)CGA>CAA	47	47			central_nervous_system(6)|ovary(2)|skin(1)	9	Broad	desmoplakin isoform I			7565623		0.502	ENSG00000096696	4697	g.chr6:7565623G>A	cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton							76.33287	KEEP	19	12	-1	17	27	19	12	-1	76.983374	17	27	0.393939	1	0	0	0	0	1	0	0	0	--	--		0	A			DSP_uc003mxq.1_Missense_Mutation_p.R270Q	291	GBM-87-5896-TP	p.R270Q	G	GATCACCTGCGACAGCTGCAG	NM_004415	NP_004406	7565623	P15924	DESP_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	7	1088	+	A	A	Ovarian(93;0.0584)	all_hematologic(90;0.236)	Missense_Mutation	270			Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.			
DSP	1832		GRCh37	6	7576571	7576571	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000379802.3:c.2675G>A	p.Arg892His	p.R892H	ENST00000379802	NM_004415.2	892	cGt/cAt	0																																																																																																																																																																																																																																												
DSP	1832		GRCh37	6	7580369	7580369	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000379802.3:c.3946G>A	p.Ala1316Thr	p.A1316T	ENST00000379802	NM_004415.2	1316	Gct/Act	0																																																																																																																																																																																																																																												
DSP	1832		GRCh37	6	7584328	7584328	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000379802.3:c.6833T>C	p.Met2278Thr	p.M2278T	ENST00000379802	NM_004415.2	2278	aTg/aCg	0																																																																																																																																																																																																																																												
DSP	1832		GRCh37	6	7575560	7575560	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000379802.3:c.2469G>A	p.Ser823=	p.S823=	ENST00000379802	NM_004415.2	823	tcG/tcA	0																																																																																																																																																																																																																																												
DSP	1832		GRCh37	6	7581687	7581687	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000379802.3:c.5264A>T	p.Gln1755Leu	p.Q1755L	ENST00000379802	NM_004415.2	1755	cAg/cTg	0																																																																																																																																																																																																																																												
DSP	1832		GRCh37	6	7576615	7576615	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000379802.3:c.2719C>T	p.Arg907Cys	p.R907C	ENST00000379802	NM_004415.2	907	Cgc/Tgc	0																																																																																																																																																																																																																																												
DSPP	1834		GRCh37	4	88534401	88534401	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000399271.1:c.1063G>A	p.Val355Ile	p.V355I	ENST00000399271	NM_014208.3	355	Gta/Ata	0																																																																																																																																																																																																																																												
DST	667	broad.mit.edu	GRCh37	6	56457035	56457035	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0125-01	TCGA-06-0125-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000244364.6:c.4979C>G	p.Ser1660Cys	p.S1660C	ENST00000244364	NM_015548.4	1660	tCt/tGt	0			1			C	S/C	uc003pdf.2	protein_coding	YES	CCDS47443.1			4979/15516									ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	c.(6490-6492)TCT>TGT			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF38,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	dystonin isoform 2				ENSP00000244364		30/84									COSM3411220,COSM3411221	30/84	.		ENST00000244364	Transcript	1		cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	ENSG00000151914	g.chr6:56457035G>C	1090			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=DYST_HUMAN&rb=4060&re=4153&var=S4072C	NA	getma.org/?cm=var&var=hg19,6,56457035,G,C&fts=all	S4072C	--	--	1																																		DST_uc003pcz.3_Missense_Mutation_p.S1986C|DST_uc011dxj.1_Missense_Mutation_p.S2015C|DST_uc011dxk.1_Missense_Mutation_p.S2026C|DST_uc003pcy.3_Missense_Mutation_p.S1660C|DST_uc010kaa.1_RNA	1,1	1		possibly_damaging(0.729)	p.S2164C	NM_001144769	NP_001138241			1,1	DYST_HUMAN	DST	HGNC	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		Q86T18_HUMAN		43	6519	-	Lung NSC(77;0.103)		UPI00001C1577	4072			Spectrin 3.		SNV	DST,missense_variant,p.Ser4252Cys,ENST00000370754,;DST,missense_variant,p.Ser4074Cys,ENST00000370769,;DST,missense_variant,p.Ser4072Cys,ENST00000312431,;DST,missense_variant,p.Ser3748Cys,ENST00000446842,;DST,missense_variant,p.Ser4072Cys,ENST00000361203,;DST,missense_variant,p.Ser1986Cys,ENST00000370788,NM_001144769.2,NM_183380.3,NM_001144770.1;DST,missense_variant,p.Ser1986Cys,ENST00000421834,;DST,missense_variant,p.Ser1660Cys,ENST00000244364,NM_015548.4;DST,missense_variant,p.Ser320Cys,ENST00000518398,;	uc003pdf.2	c.6491C>G	5187/16742	3	3			c.6491C>G						6	SNP	c.(6490-6492)TCT>TGT	59	59			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Broad	dystonin isoform 2			56457035		0.433	ENSG00000151914	4699	g.chr6:56457035G>C	cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			2498			2498	53.789637	KEEP	4	12	-1	18	13	4	12	-1	54.311919	18	13	0.380952	1	0	0	0	0	1	0	0	0	--	--		0	C			DST_uc003pcz.3_Missense_Mutation_p.S1986C|DST_uc011dxj.1_Missense_Mutation_p.S2015C|DST_uc011dxk.1_Missense_Mutation_p.S2026C|DST_uc003pcy.3_Missense_Mutation_p.S1660C|DST_uc010kaa.1_RNA	12	GBM-06-0125-TP	p.S2164C	G	AATAGGTTCAGATAAGTGTTT	NM_001144769	NP_001138241	56457035	Q03001	DYST_HUMAN	0	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		43	6519	-	C	C	Lung NSC(77;0.103)		Missense_Mutation	4072			Spectrin 3.			
DST	667	broad.mit.edu	GRCh37	6	56505355	56505355	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0155-01	TCGA-06-0155-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000244364.6:c.465T>C	p.Ser155=	p.S155=	ENST00000244364	NM_015548.4	155	tcT/tcC	0			1			G	S	uc003pdf.2	protein_coding	YES	CCDS47443.1			465/15516									ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	c.(1975-1977)TCT>TCC			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF38	dystonin isoform 2				ENSP00000244364		Apr-84									COSM2150005,COSM2150004,COSM2150008,COSM2150006,COSM2150007	Apr-84	.		ENST00000244364	Transcript	1		cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	ENSG00000151914	g.chr6:56505355A>G	1090			LOW								--	--	1																																		DST_uc003pcz.3_Silent_p.S481S|DST_uc011dxj.1_Silent_p.S510S|DST_uc011dxk.1_Silent_p.S521S|DST_uc011dxl.1_Silent_p.S510S|DST_uc003pcy.3_Silent_p.S155S|DST_uc003pdb.2_Silent_p.S155S|DST_uc003pdc.3_Silent_p.S155S|DST_uc003pdd.3_Silent_p.S155S|DST_uc003pde.2_Silent_p.S597S	1,1,1,1,1	1			p.S659S	NM_001144769	NP_001138241			1,1,1,1,1	DYST_HUMAN	DST	HGNC	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		Q86T18_HUMAN		17	2005	-	Lung NSC(77;0.103)		UPI00001C1577	481					SNV	DST,synonymous_variant,p.=,ENST00000370754,;DST,synonymous_variant,p.=,ENST00000370769,;DST,synonymous_variant,p.=,ENST00000312431,;DST,synonymous_variant,p.=,ENST00000446842,;DST,synonymous_variant,p.=,ENST00000361203,;DST,synonymous_variant,p.=,ENST00000370788,NM_001144769.2,NM_183380.3,NM_001144770.1;DST,synonymous_variant,p.=,ENST00000421834,;DST,synonymous_variant,p.=,ENST00000244364,NM_015548.4;DST,synonymous_variant,p.=,ENST00000439203,;DST,synonymous_variant,p.=,ENST00000370765,NM_001723.5;DST,synonymous_variant,p.=,ENST00000520645,;DST,synonymous_variant,p.=,ENST00000518935,;DST,synonymous_variant,p.=,ENST00000449297,;DST,non_coding_transcript_exon_variant,,ENST00000521104,;DST,non_coding_transcript_exon_variant,,ENST00000523967,;DST,downstream_gene_variant,,ENST00000518828,;	uc003pdf.2	c.1977T>C	673/16742	3	3			c.1977T>C						6	SNP	c.(1975-1977)TCT>TCC	10	10			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Broad	dystonin isoform 2			56505355		0.388	ENSG00000151914	4699	g.chr6:56505355A>G	cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			2498			2498	225.135096	KEEP	32	43	-1	71	79	32	43	-1	230.152074	71	79	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	G			DST_uc003pcz.3_Silent_p.S481S|DST_uc011dxj.1_Silent_p.S510S|DST_uc011dxk.1_Silent_p.S521S|DST_uc011dxl.1_Silent_p.S510S|DST_uc003pcy.3_Silent_p.S155S|DST_uc003pdb.2_Silent_p.S155S|DST_uc003pdc.3_Silent_p.S155S|DST_uc003pdd.3_Silent_p.S155S|DST_uc003pde.2_Silent_p.S597S	27	GBM-06-0155-TP	p.S659S	A	TGTACACAGAAGAACATTCGT	NM_001144769	NP_001138241	56505355	Q03001	DYST_HUMAN	0	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		17	2005	-	G	G	Lung NSC(77;0.103)		Silent	481						
DST	667	broad.mit.edu	GRCh37	6	56566691	56566691	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01	TCGA-06-0168-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312431.6:c.316C>T	p.Arg106Cys	p.R106C	ENST00000312431		106	Cgc/Tgc	0		A:0	1	A:0.0014		A	R/C	uc003pdf.2	protein_coding					850/23253									ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	c.(850-852)CGC>TGC			PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF38,Pfam_domain:PF00307,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576	dystonin isoform 2		A:0		ENSP00000359790	A:0	7/102	8.28E-05	0.000209	0.000355			1.53E-05		0.000187	rs183558657,COSM3411225,COSM3411224	7/102	.		ENST00000370754	Transcript	1	A:0.0002	cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	ENSG00000151914	g.chr6:56566691G>A	1090			MODERATE		1.875	low	getma.org/?cm=msa&ty=f&p=E7ESK0_HUMAN&rb=1&re=89&var=R57C	getma.org/pdb.php?prot=E7ESK0_HUMAN&from=1&to=89&var=R57C	getma.org/?cm=var&var=hg19,6,56566691,G,A&fts=all	R57C	--	--	1																																		DST_uc003pcz.3_Missense_Mutation_p.R106C|DST_uc011dxj.1_Missense_Mutation_p.R135C|DST_uc011dxk.1_Missense_Mutation_p.R146C|DST_uc011dxl.1_Missense_Mutation_p.R135C	0,1,1	1		possibly_damaging(0.779)	p.R284C	NM_001144769	NP_001138241	A:0		0,1,1		DST	HGNC	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		Q8WXY3_HUMAN,Q5T0V7_HUMAN,E9PEB9_HUMAN,E7ESK0_HUMAN		7	878	-	Lung NSC(77;0.103)		UPI0002065B99	106			CH 1.|Actin-binding.		SNV	DST,missense_variant,p.Arg284Cys,ENST00000370754,;DST,missense_variant,p.Arg106Cys,ENST00000370769,;DST,missense_variant,p.Arg106Cys,ENST00000312431,;DST,missense_variant,p.Arg106Cys,ENST00000361203,;DST,missense_variant,p.Arg106Cys,ENST00000370788,NM_001144769.2,NM_183380.3,NM_001144770.1;DST,missense_variant,p.Arg106Cys,ENST00000421834,;DST,missense_variant,p.Arg146Cys,ENST00000520645,;DST,missense_variant,p.Arg284Cys,ENST00000449297,;DST,missense_variant,p.Arg57Cys,ENST00000522538,;DST,missense_variant,p.Arg99Cys,ENST00000523817,;DST,non_coding_transcript_exon_variant,,ENST00000523967,;DST,non_coding_transcript_exon_variant,,ENST00000521821,;	uc003pdf.2	c.850C>T	850/24269	1	1			c.850C>T						6	SNP	c.(850-852)CGC>TGC	55	55			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Broad	dystonin isoform 2			56566691		0.343	ENSG00000151914	4699	g.chr6:56566691G>A	cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			2498			2498	75.825183	KEEP	16	13	-1	26	33	16	13	-1	77.997762	26	33	0.325	1	0	0	0	0	1	0	0	0	--	--		0	A			DST_uc003pcz.3_Missense_Mutation_p.R106C|DST_uc011dxj.1_Missense_Mutation_p.R135C|DST_uc011dxk.1_Missense_Mutation_p.R146C|DST_uc011dxl.1_Missense_Mutation_p.R135C	33	GBM-06-0168-TP	p.R284C	G	CATACCTGGCGTCTTTTCAAA	NM_001144769	NP_001138241	56566691	Q03001	DYST_HUMAN	0	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		7	878	-	A	A	Lung NSC(77;0.103)		Missense_Mutation	106			CH 1.|Actin-binding.			
DST	0	broad.mit.edu	GRCh37	6	56342227	56342227	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-16-0861-01	TCGA-16-0861-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000244364.6:c.13722C>T	p.Gly4574=	p.G4574=	ENST00000244364	NM_015548.4	4574	ggC/ggT	0			1			A	G	uc003pdf.2	protein_coding	YES	CCDS47443.1			13722/15516									ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	c.(15232-15234)GGC>GGT			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	dystonin isoform 2				ENSP00000244364		72/84	8.27E-06		8.64E-05						rs760689511,COSM3158537,COSM3158538	72/84	.		ENST00000244364	Transcript	1		cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	ENSG00000151914	g.chr6:56342227G>A	1090			LOW								--	--	1																																		DST_uc003pcz.3_Silent_p.G4900G|DST_uc011dxj.1_Silent_p.G4929G|DST_uc011dxk.1_Silent_p.G4940G|DST_uc003pcy.3_Silent_p.G4574G	0,1,1	1			p.G5078G	NM_001144769	NP_001138241			0,1,1	DYST_HUMAN	DST	HGNC	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		Q86T18_HUMAN		85	15262	-	Lung NSC(77;0.103)		UPI00001C1577	6986			Spectrin 20.		SNV	DST,synonymous_variant,p.=,ENST00000370754,;DST,synonymous_variant,p.=,ENST00000370769,;DST,synonymous_variant,p.=,ENST00000446842,;DST,synonymous_variant,p.=,ENST00000361203,;DST,synonymous_variant,p.=,ENST00000370788,NM_001144769.2,NM_183380.3,NM_001144770.1;DST,synonymous_variant,p.=,ENST00000421834,;DST,synonymous_variant,p.=,ENST00000244364,NM_015548.4;DST,3_prime_UTR_variant,,ENST00000312431,;DST,upstream_gene_variant,,ENST00000523943,;DST,non_coding_transcript_exon_variant,,ENST00000517840,;DST,upstream_gene_variant,,ENST00000492944,;	uc003pdf.2	c.15234C>T	13930/16742	2	2			c.15234C>T						6	SNP	c.(15232-15234)GGC>GGT	33	33			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Broad	dystonin isoform 2			56342227		0.458	ENSG00000151914	4699	g.chr6:56342227G>A	cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity		p.G4574G(HCC1569-Tumor)|p.G4574G(PF382-Tumor)	2498		p.G4574G(HCC1569-Tumor)|p.G4574G(PF382-Tumor)	2498	181.895737	KEEP	43	42	-1	67	58	43	42	-1	184.099033	67	58	0.377246	1	0	0	0	0	0	0	1	0	--	--		0	A			DST_uc003pcz.3_Silent_p.G4900G|DST_uc011dxj.1_Silent_p.G4929G|DST_uc011dxk.1_Silent_p.G4940G|DST_uc003pcy.3_Silent_p.G4574G	156	GBM-16-0861-TP	p.G5078G	G	AAACGGTGTCGCCCATAGTGG	NM_001144769	NP_001138241	56342227	Q03001	DYST_HUMAN	0	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		85	15262	-	A	A	Lung NSC(77;0.103)		Silent	6986			Spectrin 20.			
DST	0	broad.mit.edu	GRCh37	6	56566691	56566691	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2619-01	TCGA-19-2619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312431.6:c.316C>T	p.Arg106Cys	p.R106C	ENST00000312431		106	Cgc/Tgc	0		A:0	1	A:0.0014		A	R/C	uc003pdf.2	protein_coding					850/23253									ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	c.(850-852)CGC>TGC			PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF38,Pfam_domain:PF00307,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576	dystonin isoform 2		A:0		ENSP00000359790	A:0	7/102	8.28E-05	0.000209	0.000355			1.53E-05		0.000187	rs183558657,COSM3411225,COSM3411224	7/102	.		ENST00000370754	Transcript	1	A:0.0002	cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	ENSG00000151914	g.chr6:56566691G>A	1090			MODERATE		1.875	low	getma.org/?cm=msa&ty=f&p=E7ESK0_HUMAN&rb=1&re=89&var=R57C	getma.org/pdb.php?prot=E7ESK0_HUMAN&from=1&to=89&var=R57C	getma.org/?cm=var&var=hg19,6,56566691,G,A&fts=all	R57C	--	--	1																																		DST_uc003pcz.3_Missense_Mutation_p.R106C|DST_uc011dxj.1_Missense_Mutation_p.R135C|DST_uc011dxk.1_Missense_Mutation_p.R146C|DST_uc011dxl.1_Missense_Mutation_p.R135C	0,1,1	1		possibly_damaging(0.779)	p.R284C	NM_001144769	NP_001138241	A:0		0,1,1		DST	HGNC	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		Q8WXY3_HUMAN,Q5T0V7_HUMAN,E9PEB9_HUMAN,E7ESK0_HUMAN		7	878	-	Lung NSC(77;0.103)		UPI0002065B99	106			CH 1.|Actin-binding.		SNV	DST,missense_variant,p.Arg284Cys,ENST00000370754,;DST,missense_variant,p.Arg106Cys,ENST00000370769,;DST,missense_variant,p.Arg106Cys,ENST00000312431,;DST,missense_variant,p.Arg106Cys,ENST00000361203,;DST,missense_variant,p.Arg106Cys,ENST00000370788,NM_001144769.2,NM_183380.3,NM_001144770.1;DST,missense_variant,p.Arg106Cys,ENST00000421834,;DST,missense_variant,p.Arg146Cys,ENST00000520645,;DST,missense_variant,p.Arg284Cys,ENST00000449297,;DST,missense_variant,p.Arg57Cys,ENST00000522538,;DST,missense_variant,p.Arg99Cys,ENST00000523817,;DST,non_coding_transcript_exon_variant,,ENST00000523967,;DST,non_coding_transcript_exon_variant,,ENST00000521821,;	uc003pdf.2	c.850C>T	850/24269	1	1			c.850C>T						6	SNP	c.(850-852)CGC>TGC	55	55			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Broad	dystonin isoform 2			56566691		0.343	ENSG00000151914	4699	g.chr6:56566691G>A	cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			2498			2498	37.358604	KEEP	12	2	-1	22	14	12	2	-1	39.004887	22	14	0.295455	1	0	0	0	0	1	0	0	0	--	--		0	A			DST_uc003pcz.3_Missense_Mutation_p.R106C|DST_uc011dxj.1_Missense_Mutation_p.R135C|DST_uc011dxk.1_Missense_Mutation_p.R146C|DST_uc011dxl.1_Missense_Mutation_p.R135C	161	GBM-19-2619-TP	p.R284C	G	CATACCTGGCGTCTTTTCAAA	NM_001144769	NP_001138241	56566691	Q03001	DYST_HUMAN	0	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		7	878	-	A	A	Lung NSC(77;0.103)		Missense_Mutation	106			CH 1.|Actin-binding.			
DST	0	broad.mit.edu	GRCh37	6	56566691	56566691	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2524-01	TCGA-27-2524-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312431.6:c.316C>T	p.Arg106Cys	p.R106C	ENST00000312431		106	Cgc/Tgc	0		A:0	1	A:0.0014		A	R/C	uc003pdf.2	protein_coding					850/23253									ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	c.(850-852)CGC>TGC			PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF38,Pfam_domain:PF00307,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576	dystonin isoform 2		A:0		ENSP00000359790	A:0	7/102	8.28E-05	0.000209	0.000355			1.53E-05		0.000187	rs183558657,COSM3411225,COSM3411224	7/102	.		ENST00000370754	Transcript	1	A:0.0002	cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	ENSG00000151914	g.chr6:56566691G>A	1090			MODERATE		1.875	low	getma.org/?cm=msa&ty=f&p=E7ESK0_HUMAN&rb=1&re=89&var=R57C	getma.org/pdb.php?prot=E7ESK0_HUMAN&from=1&to=89&var=R57C	getma.org/?cm=var&var=hg19,6,56566691,G,A&fts=all	R57C	--	--	1																																		DST_uc003pcz.3_Missense_Mutation_p.R106C|DST_uc011dxj.1_Missense_Mutation_p.R135C|DST_uc011dxk.1_Missense_Mutation_p.R146C|DST_uc011dxl.1_Missense_Mutation_p.R135C	0,1,1	1		possibly_damaging(0.779)	p.R284C	NM_001144769	NP_001138241	A:0		0,1,1		DST	HGNC	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		Q8WXY3_HUMAN,Q5T0V7_HUMAN,E9PEB9_HUMAN,E7ESK0_HUMAN		7	878	-	Lung NSC(77;0.103)		UPI0002065B99	106			CH 1.|Actin-binding.		SNV	DST,missense_variant,p.Arg284Cys,ENST00000370754,;DST,missense_variant,p.Arg106Cys,ENST00000370769,;DST,missense_variant,p.Arg106Cys,ENST00000312431,;DST,missense_variant,p.Arg106Cys,ENST00000361203,;DST,missense_variant,p.Arg106Cys,ENST00000370788,NM_001144769.2,NM_183380.3,NM_001144770.1;DST,missense_variant,p.Arg106Cys,ENST00000421834,;DST,missense_variant,p.Arg146Cys,ENST00000520645,;DST,missense_variant,p.Arg284Cys,ENST00000449297,;DST,missense_variant,p.Arg57Cys,ENST00000522538,;DST,missense_variant,p.Arg99Cys,ENST00000523817,;DST,non_coding_transcript_exon_variant,,ENST00000523967,;DST,non_coding_transcript_exon_variant,,ENST00000521821,;	uc003pdf.2	c.850C>T	850/24269	1	1			c.850C>T						6	SNP	c.(850-852)CGC>TGC	55	55			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Broad	dystonin isoform 2			56566691		0.343	ENSG00000151914	4699	g.chr6:56566691G>A	cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			2498			2498	65.030307	KEEP	8	15	-1	21	23	8	15	-1	66.530002	21	23	0.338462	1	0	0	0	0	1	0	0	0	--	--		0	A			DST_uc003pcz.3_Missense_Mutation_p.R106C|DST_uc011dxj.1_Missense_Mutation_p.R135C|DST_uc011dxk.1_Missense_Mutation_p.R146C|DST_uc011dxl.1_Missense_Mutation_p.R135C	202	GBM-27-2524-TP	p.R284C	G	CATACCTGGCGTCTTTTCAAA	NM_001144769	NP_001138241	56566691	Q03001	DYST_HUMAN	0	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		7	878	-	A	A	Lung NSC(77;0.103)		Missense_Mutation	106			CH 1.|Actin-binding.			
DST	0	broad.mit.edu	GRCh37	6	56476386	56476386	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-32-4210-01	TCGA-32-4210-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000244364.6:c.3456T>C	p.Ser1152=	p.S1152=	ENST00000244364	NM_015548.4	1152	agT/agC	0			1			G	S	uc003pdf.2	protein_coding	YES	CCDS47443.1			3456/15516									ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	c.(4966-4968)AGT>AGC			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF38	dystonin isoform 2				ENSP00000244364		24/84									COSM3411222,COSM3411223	24/84	.		ENST00000244364	Transcript	1		cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	ENSG00000151914	g.chr6:56476386A>G	1090			LOW								--	--	1																																		DST_uc003pcz.3_Silent_p.S1478S|DST_uc011dxj.1_Silent_p.S1507S|DST_uc011dxk.1_Silent_p.S1518S|DST_uc003pcy.3_Silent_p.S1152S|DST_uc003pdb.2_Silent_p.S1152S	1,1	1			p.S1656S	NM_001144769	NP_001138241			1,1	DYST_HUMAN	DST	HGNC	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		Q86T18_HUMAN		37	4996	-	Lung NSC(77;0.103)		UPI00001C1577	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					SNV	DST,synonymous_variant,p.=,ENST00000370754,;DST,synonymous_variant,p.=,ENST00000370769,;DST,synonymous_variant,p.=,ENST00000312431,;DST,synonymous_variant,p.=,ENST00000446842,;DST,synonymous_variant,p.=,ENST00000361203,;DST,synonymous_variant,p.=,ENST00000370788,NM_001144769.2,NM_183380.3,NM_001144770.1;DST,synonymous_variant,p.=,ENST00000421834,;DST,synonymous_variant,p.=,ENST00000244364,NM_015548.4;DST,synonymous_variant,p.=,ENST00000439203,;DST,downstream_gene_variant,,ENST00000370765,NM_001723.5;DST,downstream_gene_variant,,ENST00000520645,;	uc003pdf.2	c.4968T>C	3664/16742	4	4			c.4968T>C						6	SNP	c.(4966-4968)AGT>AGC	22	22			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Broad	dystonin isoform 2			56476386		0.333	ENSG00000151914	4699	g.chr6:56476386A>G	cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			2498			2498	-5.592816	KEEP	0	2	-1	22	33	0	2	-1	6.373175	22	33	0.038462	1	0	0	0	0	0	0	1	0	--	--		0	G			DST_uc003pcz.3_Silent_p.S1478S|DST_uc011dxj.1_Silent_p.S1507S|DST_uc011dxk.1_Silent_p.S1518S|DST_uc003pcy.3_Silent_p.S1152S|DST_uc003pdb.2_Silent_p.S1152S	245	GBM-32-4210-TP	p.S1656S	A	ATATTTCCTCACTGGAAATCT	NM_001144769	NP_001138241	56476386	Q03001	DYST_HUMAN	0	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		37	4996	-	G	G	Lung NSC(77;0.103)		Silent	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						
DST	0	broad.mit.edu	GRCh37	6	56357035	56357035	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-41-2571-01	TCGA-41-2571-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000244364.6:c.12878G>C	p.Arg4293Thr	p.R4293T	ENST00000244364	NM_015548.4	4293	aGa/aCa	0			1			G	R/T	uc003pdf.2	protein_coding	YES	CCDS47443.1			12878/15516									ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	c.(14389-14391)AGA>ACA			Pfam_domain:PF00435,Gene3D:1.20.58.60,Superfamily_domains:SSF46966	dystonin isoform 2				ENSP00000244364		66/84									COSM3411218,COSM3411219	66/84	.		ENST00000244364	Transcript	1		cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	ENSG00000151914	g.chr6:56357035C>G	1090			MODERATE		2.19	medium	getma.org/?cm=msa&ty=f&p=DYST_HUMAN&rb=6704&re=6811&var=R6705T	NA	getma.org/?cm=var&var=hg19,6,56357035,C,G&fts=all	R6705T	--	--	1																																		DST_uc003pcz.3_Missense_Mutation_p.R4619T|DST_uc011dxj.1_Missense_Mutation_p.R4648T|DST_uc011dxk.1_Missense_Mutation_p.R4659T|DST_uc003pcy.3_Missense_Mutation_p.R4293T|DST_uc003pda.3_5'UTR	1,1	1		probably_damaging(0.999)	p.R4797T	NM_001144769	NP_001138241			1,1	DYST_HUMAN	DST	HGNC	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		Q86T18_HUMAN		79	14418	-	Lung NSC(77;0.103)		UPI00001C1577	6705			Spectrin 18.		SNV	DST,missense_variant,p.Arg6885Thr,ENST00000370754,;DST,missense_variant,p.Arg6707Thr,ENST00000370769,;DST,missense_variant,p.Arg6381Thr,ENST00000446842,;DST,missense_variant,p.Arg6596Thr,ENST00000361203,;DST,missense_variant,p.Arg4510Thr,ENST00000370788,NM_001144769.2,NM_183380.3,NM_001144770.1;DST,missense_variant,p.Arg4619Thr,ENST00000421834,;DST,missense_variant,p.Arg4293Thr,ENST00000244364,NM_015548.4;DST,3_prime_UTR_variant,,ENST00000312431,;DST,downstream_gene_variant,,ENST00000340834,;DST,non_coding_transcript_exon_variant,,ENST00000487754,;DST,downstream_gene_variant,,ENST00000459869,;	uc003pdf.2	c.14390G>C	13086/16742	4	4			c.14390G>C						6	SNP	c.(14389-14391)AGA>ACA	24	24			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Broad	dystonin isoform 2			56357035		0.373	ENSG00000151914	4699	g.chr6:56357035C>G	cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			2498			2498	142.708503	KEEP	22	22	-1	29	33	22	22	-1	143.521526	29	33	0.402062	1	0	0	0	0	1	0	0	0	--	--		0	G			DST_uc003pcz.3_Missense_Mutation_p.R4619T|DST_uc011dxj.1_Missense_Mutation_p.R4648T|DST_uc011dxk.1_Missense_Mutation_p.R4659T|DST_uc003pcy.3_Missense_Mutation_p.R4293T|DST_uc003pda.3_5'UTR	250	GBM-41-2571-TP	p.R4797T	C	CTGCTTGGCTCTCTTCCTTGC	NM_001144769	NP_001138241	56357035	Q03001	DYST_HUMAN	0	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		79	14418	-	G	G	Lung NSC(77;0.103)		Missense_Mutation	6705			Spectrin 18.			
DSTYK	25778	broad.mit.edu	GRCh37	1	205129369	205129369	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367162.3:c.1978C>T	p.Arg660Trp	p.R660W	ENST00000367162	NM_015375.2	660	Cgg/Tgg	0			1			A	R/W	uc001hbw.2	protein_coding	YES	CCDS1451.1			1978/2790									lung(1)	1	c.(1978-1980)CGG>TGG			Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_patterns:PS00107,PROSITE_profiles:PS50011,hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF54,SMART_domains:SM00220,Superfamily_domains:SSF56112	receptor interacting protein kinase 5 isoform 1				ENSP00000356130		13-Aug									COSM3400227,COSM3400226	13-Aug	.		ENST00000367162	Transcript	1			cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000133059	g.chr1:205129369G>A	29043			MODERATE		2.47	medium	getma.org/?cm=msa&ty=f&p=DUSTY_HUMAN&rb=653&re=906&var=R660W	getma.org/pdb.php?prot=DUSTY_HUMAN&from=653&to=906&var=R660W	getma.org/?cm=var&var=hg19,1,205129369,G,A&fts=all	R660W	--	--	1																																		DSTYK_uc001hbx.2_Missense_Mutation_p.R660W|DSTYK_uc001hby.1_Missense_Mutation_p.R121W	1,1	1		possibly_damaging(0.785)	p.R660W	NM_015375	NP_056190		deleterious(0)	1,1	DUSTY_HUMAN	DSTYK	HGNC	Q6XUX3	DUSTY_HUMAN					8	2042	-			UPI00001D7D39	660			Protein kinase.|ATP (By similarity).		SNV	DSTYK,missense_variant,p.Arg660Trp,ENST00000367162,NM_015375.2;DSTYK,missense_variant,p.Arg660Trp,ENST00000367161,NM_199462.2;DSTYK,intron_variant,,ENST00000367160,;	uc001hbw.2	c.1978C>T	2009/7874	1	1			c.1978C>T						1	SNP	c.(1978-1980)CGG>TGG	50	50			lung(1)	1	Broad	receptor interacting protein kinase 5 isoform 1			205129369		0.498	ENSG00000133059	4701	g.chr1:205129369G>A		cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			236			236	-40.72118	KEEP	7	10	-1	174	186	7	10	-1	30.903381	174	186	0.043614	1	0	0	0	0	1	0	0	0	--	--		0	A			DSTYK_uc001hbx.2_Missense_Mutation_p.R660W|DSTYK_uc001hby.1_Missense_Mutation_p.R121W	39	GBM-06-0184-TP	p.R660W	G	TACTGGCCCCGGCCCAGTTCC	NM_015375	NP_056190	205129369	Q6XUX3	DUSTY_HUMAN	0			8	2042	-	A	A			Missense_Mutation	660			Protein kinase.|ATP (By similarity).			
DSTYK	0	broad.mit.edu	GRCh37	1	205138447	205138447	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01	TCGA-14-3476-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367162.3:c.1168C>T	p.Arg390Cys	p.R390C	ENST00000367162	NM_015375.2	390	Cgt/Tgt	0			1			A	R/C	uc001hbw.2	protein_coding	YES	CCDS1451.1			1168/2790									lung(1)	1	c.(1168-1170)CGT>TGT			hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF54	receptor interacting protein kinase 5 isoform 1				ENSP00000356130		13-Mar	8.24E-06							6.06E-05	rs769627475,COSM3400228	13-Mar	.		ENST00000367162	Transcript	1			cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000133059	g.chr1:205138447G>A	29043			MODERATE		2.305	medium	getma.org/?cm=msa&ty=f&p=DUSTY_HUMAN&rb=201&re=400&var=R390C	NA	getma.org/?cm=var&var=hg19,1,205138447,G,A&fts=all	R390C	--	--	1																																		DSTYK_uc001hbx.2_Missense_Mutation_p.R390C|DSTYK_uc001hby.1_Intron	0,1	1		probably_damaging(0.999)	p.R390C	NM_015375	NP_056190		deleterious(0)	0,1	DUSTY_HUMAN	DSTYK	HGNC	Q6XUX3	DUSTY_HUMAN					3	1232	-			UPI00001D7D39	390					SNV	DSTYK,missense_variant,p.Arg390Cys,ENST00000367162,NM_015375.2;DSTYK,missense_variant,p.Arg390Cys,ENST00000367161,NM_199462.2;DSTYK,missense_variant,p.Arg390Cys,ENST00000367160,;	uc001hbw.2	c.1168C>T	1199/7874	2	2			c.1168C>T						1	SNP	c.(1168-1170)CGT>TGT	35	35			lung(1)	1	Broad	receptor interacting protein kinase 5 isoform 1			205138447		0.458	ENSG00000133059	4701	g.chr1:205138447G>A		cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity		p.R390C(A2780-Tumor)	236		p.R390C(A2780-Tumor)	236	4.325778	KEEP	7	9	-1	75	91	7	9	-1	31.353664	75	91	0.088608	1	0	0	0	0	1	0	0	0	--	--		0	A			DSTYK_uc001hbx.2_Missense_Mutation_p.R390C|DSTYK_uc001hby.1_Intron	151	GBM-14-3476-TP	p.R390C	G	TATTCCAGACGTTTGGGAGTG	NM_015375	NP_056190	205138447	Q6XUX3	DUSTY_HUMAN	0			3	1232	-	A	A			Missense_Mutation	390						
DTD1	92675	broad.mit.edu	GRCh37	20	18576672	18576672	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377452.3:c.157C>T	p.Arg53Cys	p.R53C	ENST00000377452	NM_080820.4	53	Cgt/Tgt	0			1			T	R/C	uc002wrf.3	protein_coding	YES	CCDS13138.1			157/630									ovary(2)	2	c.(157-159)CGT>TGT			Gene3D:3.50.80.10,HAMAP:MF_00518,Pfam_domain:PF02580,hmmpanther:PTHR10472,Superfamily_domains:SSF69500,TIGRFAM_domain:TIGR00256	D-tyrosyl-tRNA deacylase 1				ENSP00000366672		6-Mar	8.24E-06							6.06E-05	rs745796443,COSM2149383	6-Mar	.		ENST00000377452	Transcript			D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds	ENSG00000125821	g.chr20:18576672C>T	16219			MODERATE		4.36	high	getma.org/?cm=msa&ty=f&p=DTD1_HUMAN&rb=2&re=147&var=R53C	getma.org/pdb.php?prot=DTD1_HUMAN&from=2&to=147&var=R53C	getma.org/?cm=var&var=hg19,20,18576672,C,T&fts=all	R53C	--	--	1																																			0,1	1		probably_damaging(0.999)	p.R53C	NM_080820	NP_543010		deleterious(0)	0,1	DTD1_HUMAN	DTD1	HGNC	Q8TEA8	DTD1_HUMAN					3	318	+			UPI000013D2D6	53					SNV	DTD1,missense_variant,p.Arg53Cys,ENST00000377452,NM_080820.4;RN7SL638P,downstream_gene_variant,,ENST00000494527,;DTD1,non_coding_transcript_exon_variant,,ENST00000494921,;	uc002wrf.3	c.157C>T	337/1387	1	1			c.157C>T						20	SNP	c.(157-159)CGT>TGT	7	7			ovary(2)	2	Broad	D-tyrosyl-tRNA deacylase 1			18576672		0.493	ENSG00000125821	4702	g.chr20:18576672C>T	D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds							49.664593	KEEP	21	8	-1	55	61	21	8	-1	61.153303	55	61	0.185484	1	0	0	0	0	1	0	0	0	--	--		0	T				12	GBM-06-0125-TP	p.R53C	C	TCTAAACCTGCGTGTATTTGA	NM_080820	NP_543010	18576672	Q8TEA8	DTD1_HUMAN	0			3	318	+	T	T			Missense_Mutation	53						
DTNB	0	broad.mit.edu	GRCh37	2	25674485	25674485	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-32-2638-01	TCGA-32-2638-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000406818.3:c.1189C>T	p.Arg397Ter	p.R397*	ENST00000406818	NM_001256303.1	397	Cga/Tga	0	A:0		1			A	R/*	uc002rgh.2	protein_coding	YES	CCDS46237.1			1189/1884									large_intestine(2)|ovary(2)	4	c.(1189-1191)CGA>TGA			PIRSF_domain:PIRSF038204,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF227	dystrobrevin, beta isoform 1			A:0.0002	ENSP00000384084		21-Dec	8.28E-06					2.99E-05			rs373229134,COSM3407773	21-Dec	.		ENST00000406818	Transcript				cytoplasm	calcium ion binding|zinc ion binding	ENSG00000138101	g.chr2:25674485G>A	3058			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,25674485,G,A&fts=all	R397*	--	--	1																																		DTNB_uc002rgg.2_Nonsense_Mutation_p.R26*|DTNB_uc010yko.1_Nonsense_Mutation_p.R340*|DTNB_uc010ykp.1_Nonsense_Mutation_p.R193*|DTNB_uc002rgo.2_Nonsense_Mutation_p.R188*|DTNB_uc002rgi.2_Nonsense_Mutation_p.R397*|DTNB_uc002rgj.2_Nonsense_Mutation_p.R397*|DTNB_uc002rgk.2_Nonsense_Mutation_p.R367*|DTNB_uc002rgl.2_Nonsense_Mutation_p.R367*|DTNB_uc002rgq.2_Nonsense_Mutation_p.R397*|DTNB_uc002rgm.2_Nonsense_Mutation_p.R367*|DTNB_uc002rgn.2_Nonsense_Mutation_p.R193*|DTNB_uc002rgr.1_Nonsense_Mutation_p.R386*|DTNB_uc010ykq.1_Nonsense_Mutation_p.R250*	0,1	1			p.R397*	NM_021907	NP_068707			0,1	DTNB_HUMAN	DTNB	HGNC	O60941	DTNB_HUMAN			Q53TC8_HUMAN,Q53T51_HUMAN,Q53SF9_HUMAN,Q53QV1_HUMAN,F8W9U0_HUMAN,E9PE76_HUMAN,E7ES64_HUMAN		12	1439	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		UPI0000129949	397					SNV	DTNB,stop_gained,p.Arg397Ter,ENST00000406818,NM_001256303.1,NM_021907.4;DTNB,stop_gained,p.Arg397Ter,ENST00000407661,NM_183360.2,NM_001256304.1;DTNB,stop_gained,p.Arg397Ter,ENST00000404103,NM_033147.3;DTNB,stop_gained,p.Arg397Ter,ENST00000288642,;DTNB,stop_gained,p.Arg340Ter,ENST00000496972,NM_001256308.1;DTNB,stop_gained,p.Arg367Ter,ENST00000407038,NM_033148.3;DTNB,stop_gained,p.Arg367Ter,ENST00000407186,;DTNB,stop_gained,p.Arg367Ter,ENST00000405222,NM_183361.2;DTNB,stop_gained,p.Arg193Ter,ENST00000545439,;DTNB,non_coding_transcript_exon_variant,,ENST00000489756,;DTNB,non_coding_transcript_exon_variant,,ENST00000481841,;DTNB,non_coding_transcript_exon_variant,,ENST00000486555,;DTNB,3_prime_UTR_variant,,ENST00000398951,;DTNB,3_prime_UTR_variant,,ENST00000356599,;DTNB,non_coding_transcript_exon_variant,,ENST00000485845,;DTNB,non_coding_transcript_exon_variant,,ENST00000479898,;DTNB,non_coding_transcript_exon_variant,,ENST00000482145,;	uc002rgh.2	c.1189C>T	1439/2474	5	1			c.1189C>T						2	SNP	c.(1189-1191)CGA>TGA	63	63			large_intestine(2)|ovary(2)	4	Broad	dystrobrevin, beta isoform 1			25674485		0.468	ENSG00000138101	4705	g.chr2:25674485G>A		cytoplasm	calcium ion binding|zinc ion binding							22.92504	KEEP	3	4	-1	7	2	3	4	-1	22.939402	7	2	0.466667	1	0	0	0	0	0	1	0	0	--	--		0	A			DTNB_uc002rgg.2_Nonsense_Mutation_p.R26*|DTNB_uc010yko.1_Nonsense_Mutation_p.R340*|DTNB_uc010ykp.1_Nonsense_Mutation_p.R193*|DTNB_uc002rgo.2_Nonsense_Mutation_p.R188*|DTNB_uc002rgi.2_Nonsense_Mutation_p.R397*|DTNB_uc002rgj.2_Nonsense_Mutation_p.R397*|DTNB_uc002rgk.2_Nonsense_Mutation_p.R367*|DTNB_uc002rgl.2_Nonsense_Mutation_p.R367*|DTNB_uc002rgq.2_Nonsense_Mutation_p.R397*|DTNB_uc002rgm.2_Nonsense_Mutation_p.R367*|DTNB_uc002rgn.2_Nonsense_Mutation_p.R193*|DTNB_uc002rgr.1_Nonsense_Mutation_p.R386*|DTNB_uc010ykq.1_Nonsense_Mutation_p.R250*	242	GBM-32-2638-TP	p.R397*	G	TCATCCAGTCGGCTAGGACTG	NM_021907	NP_068707	25674485	O60941	DTNB_HUMAN	0			12	1439	-	A	A	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Nonsense_Mutation	397						
DTWD2	0	broad.mit.edu	GRCh37	5	118324199	118324199	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-76-4934-01	TCGA-76-4934-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000510708.1:c.8C>A	p.Ser3Ter	p.S3*	ENST00000510708	NM_173666.2	3	tCg/tAg	0			1			T	S/*	uc003ksa.2	protein_coding	YES	CCDS34216.1			8/897										0	c.(7-9)TCG>TAG			hmmpanther:PTHR21392:SF0,hmmpanther:PTHR21392	DTW domain containing 2				ENSP00000425048		6-Jan									COSM3409673	6-Jan	.		ENST00000510708	Transcript						ENSG00000169570	g.chr5:118324199G>T	19334			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,5,118324199,G,T&fts=all	S3*	--	--	1																																OREG0016736	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1	1			p.S3*	NM_173666	NP_775937			1	DTWD2_HUMAN	DTWD2	HGNC	Q8NBA8	DTWD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)			1	42	-		all_epithelial(76;0.0982)|Prostate(80;0.121)	UPI00000738F2	3					SNV	DTWD2,stop_gained,p.Ser3Ter,ENST00000510708,NM_173666.2;DTWD2,stop_gained,p.Ser3Ter,ENST00000515439,;DTWD2,upstream_gene_variant,,ENST00000304058,;DTWD2,stop_gained,p.Ser3Ter,ENST00000506980,;	uc003ksa.2	c.8C>A	42/2307	5	2			c.8C>A						5	SNP	c.(7-9)TCG>TAG	32	32				0	Broad	DTW domain containing 2			118324199		0.706	ENSG00000169570	4708	g.chr5:118324199G>T										22.244828	KEEP	5	5	0.5	16	16	5	5	0.5	24.16601	16	16	0.263158	1	0	0	0	0	0	1	0	0	--	--		0	T	OREG0016736	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		272	GBM-76-4934-TP	p.S3*	G	CTCTTTCTGCGACTCCATGGC	NM_173666	NP_775937	118324199	Q8NBA8	DTWD2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)	1	42	-	T	T		all_epithelial(76;0.0982)|Prostate(80;0.121)	Nonsense_Mutation	3						
DTX1	1840	broad.mit.edu	GRCh37	12	113515335	113515335	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0141-01	TCGA-06-0141-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257600.3:c.366T>G	p.Asp122Glu	p.D122E	ENST00000257600	NM_004416.2	122	gaT/gaG	0			1			G	D/E	uc001tuk.1	protein_coding	YES	CCDS9164.1			366/1863									lung(2)|ovary(1)|central_nervous_system(1)	4	c.(364-366)GAT>GAG			PROSITE_profiles:PS50918,hmmpanther:PTHR12622,hmmpanther:PTHR12622:SF7,Pfam_domain:PF02825,SMART_domains:SM00678,Superfamily_domains:SSF117839	deltex homolog 1				ENSP00000257600		9-Feb									COSM356740	9-Feb	.		ENST00000257600	Transcript			negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000135144	g.chr12:113515335T>G	3060			MODERATE		1.415	low	getma.org/?cm=msa&ty=f&p=DTX1_HUMAN&rb=100&re=171&var=D122E	getma.org/pdb.php?prot=DTX1_HUMAN&from=100&to=171&var=D122E	getma.org/?cm=var&var=hg19,12,113515335,T,G&fts=all	D122E	--	--	1																																			1	1		benign(0.001)	p.D122E	NM_004416	NP_004407		tolerated(1)	1	DTX1_HUMAN	DTX1	HGNC	Q86Y01	DTX1_HUMAN					2	702	+			UPI000013CF71	122			WWE 2.		SNV	DTX1,missense_variant,p.Asp122Glu,ENST00000257600,NM_004416.2;	uc001tuk.1	c.366T>G	869/3455	3	3			c.366T>G						12	SNP	c.(364-366)GAT>GAG	56	56			lung(2)|ovary(1)|central_nervous_system(1)	4	Broad	deltex homolog 1			113515335		0.622	ENSG00000135144	4709	g.chr12:113515335T>G	negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			106			106	-7.212963	KEEP	0	5	-1	42	42	0	5	-1	7.084933	42	42	0.067568	1	0	0	0	0	1	0	0	0	--	--		0	G				21	GBM-06-0141-TP	p.D122E	T	CGGCCTACGATATGGACATCT	NM_004416	NP_004407	113515335	Q86Y01	DTX1_HUMAN	0			2	702	+	G	G			Missense_Mutation	122			WWE 2.			
DTX2	0	broad.mit.edu	GRCh37	7	76109950	76109950	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-4068-01	TCGA-19-4068-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324432.5:c.124A>G	p.Ile42Val	p.I42V	ENST00000324432	NM_020892.2	42	Atc/Gtc	0			1			G	I/V	uc003uff.3	protein_coding	YES	CCDS5587.1			124/1869									ovary(1)|skin(1)	2	c.(124-126)ATC>GTC			Superfamily_domains:SSF117839,SMART_domains:SM00678,Pfam_domain:PF02825,hmmpanther:PTHR12622,hmmpanther:PTHR12622:SF21,PROSITE_profiles:PS50918	deltex 2 isoform a				ENSP00000322885		12-Apr									COSM3412308	12-Apr	.		ENST00000324432	Transcript			Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	ENSG00000091073	g.chr7:76109950A>G	15973			MODERATE		1.795	low	getma.org/?cm=msa&ty=f&p=DTX2_HUMAN&rb=13&re=97&var=I42V	NA	getma.org/?cm=var&var=hg19,7,76109950,A,G&fts=all	I42V	--	--	1																																		DTX2_uc011kgk.1_Intron|DTX2_uc003ufg.3_Missense_Mutation_p.I42V|DTX2_uc003ufh.3_Missense_Mutation_p.I42V|DTX2_uc003ufj.3_Missense_Mutation_p.I42V	1	1		probably_damaging(0.996)	p.I42V	NM_020892	NP_065943		deleterious(0.01)	1	DTX2_HUMAN	DTX2	HGNC	Q86UW9	DTX2_HUMAN			Q75MM6_HUMAN,Q4FEB2_HUMAN,E7ET89_HUMAN,C9JY61_HUMAN,C9JVC8_HUMAN,C9JS11_HUMAN,C9JLU8_HUMAN,C9JII1_HUMAN,C9JF39_HUMAN,C9JEH4_HUMAN		4	680	+			UPI00001413A2	42			WWE 1.		SNV	DTX2,missense_variant,p.Ile42Val,ENST00000324432,NM_020892.2;DTX2,missense_variant,p.Ile42Val,ENST00000307569,;DTX2,missense_variant,p.Ile42Val,ENST00000430490,NM_001102594.1;DTX2,missense_variant,p.Ile42Val,ENST00000413936,NM_001102595.1;DTX2,missense_variant,p.Ile42Val,ENST00000446820,NM_001102596.1;DTX2,missense_variant,p.Ile42Val,ENST00000423646,;DTX2,missense_variant,p.Ile42Val,ENST00000457529,;DTX2,missense_variant,p.Ile42Val,ENST00000425780,;DTX2,missense_variant,p.Ile42Val,ENST00000438930,;DTX2,missense_variant,p.Ile42Val,ENST00000429179,;DTX2,missense_variant,p.Ile42Val,ENST00000435861,;DTX2,intron_variant,,ENST00000446600,;DTX2,downstream_gene_variant,,ENST00000442516,;DTX2,downstream_gene_variant,,ENST00000456590,;DTX2,downstream_gene_variant,,ENST00000451769,;AC007078.4,upstream_gene_variant,,ENST00000479299,;DTX2,non_coding_transcript_exon_variant,,ENST00000472426,;DTX2,downstream_gene_variant,,ENST00000492339,;	uc003uff.3	c.124A>G	634/2769	3	3			c.124A>G						7	SNP	c.(124-126)ATC>GTC	4	4			ovary(1)|skin(1)	2	Broad	deltex 2 isoform a			76109950		0.662	ENSG00000091073	4710	g.chr7:76109950A>G	Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding							-30.294842	KEEP	2	2	-1	83	87	2	2	-1	6.411315	83	87	0.020979	1	0	0	0	0	1	0	0	0	--	--		0	G			DTX2_uc011kgk.1_Intron|DTX2_uc003ufg.3_Missense_Mutation_p.I42V|DTX2_uc003ufh.3_Missense_Mutation_p.I42V|DTX2_uc003ufj.3_Missense_Mutation_p.I42V	168	GBM-19-4068-TP	p.I42V	A	CTGCAGCTTCATCGAGCAGCA	NM_020892	NP_065943	76109950	Q86UW9	DTX2_HUMAN	0			4	680	+	G	G			Missense_Mutation	42			WWE 1.			
DTX2	113878		GRCh37	7	76112453	76112453	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000324432.5:c.897C>T	p.Ser299=	p.S299=	ENST00000324432	NM_020892.2	299	tcC/tcT	0																																																																																																																																																																																																																																												
DTX3L	151636	broad.mit.edu	GRCh37	3	122289489	122289489	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0213-01	TCGA-06-0213-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296161.4:c.2123A>G	p.His708Arg	p.H708R	ENST00000296161	NM_138287.3	708	cAc/cGc	0			1			G	H/R	uc003efk.2	protein_coding	YES	CCDS3015.1			2123/2223									ovary(2)|lung(1)|breast(1)	4	c.(2122-2124)CAC>CGC			hmmpanther:PTHR12622:SF23,hmmpanther:PTHR12622	deltex 3-like				ENSP00000296161		5-Apr	8.24E-06					1.50E-05			rs780860986,COSM2150825	5-Apr	.		ENST00000296161	Transcript			histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000163840	g.chr3:122289489A>G	30323			MODERATE		3.625	high	getma.org/?cm=msa&ty=f&p=DTX3L_HUMAN&rb=602&re=740&var=H708R	getma.org/pdb.php?prot=DTX3L_HUMAN&from=602&to=740&var=H708R	getma.org/?cm=var&var=hg19,3,122289489,A,G&fts=all	H708R	--	--	1																																		DTX3L_uc010hrj.2_Missense_Mutation_p.H196R	0,1	1		probably_damaging(1)	p.H708R	NM_138287	NP_612144		deleterious(0)	0,1	DTX3L_HUMAN	DTX3L	HGNC	Q8TDB6	DTX3L_HUMAN		GBM - Glioblastoma multiforme(114;0.0459)			4	2212	+			UPI000000D9D0	708					SNV	DTX3L,missense_variant,p.His708Arg,ENST00000296161,NM_138287.3;DTX3L,missense_variant,p.His196Arg,ENST00000383661,;	uc003efk.2	c.2123A>G	2312/5868	4	4			c.2123A>G						3	SNP	c.(2122-2124)CAC>CGC	30	30			ovary(2)|lung(1)|breast(1)	4	Broad	deltex 3-like			122289489		0.423	ENSG00000163840	4712	g.chr3:122289489A>G	histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding							79.480664	KEEP	14	16	-1	54	36	14	16	-1	85.43599	54	36	0.252336	1	0	0	0	0	1	0	0	0	--	--		0	G			DTX3L_uc010hrj.2_Missense_Mutation_p.H196R	49	GBM-06-0213-TP	p.H708R	A	GATATTCACCACAAAACATCC	NM_138287	NP_612144	122289489	Q8TDB6	DTX3L_HUMAN	0		GBM - Glioblastoma multiforme(114;0.0459)	4	2212	+	G	G			Missense_Mutation	708						
DTX4	23220	broad.mit.edu	GRCh37	11	58949878	58949878	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0747-01	TCGA-06-0747-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000227451.3:c.878A>G	p.Asn293Ser	p.N293S	ENST00000227451	NM_015177.1	293	aAt/aGt	0			1			G	N/S	uc001nns.2	protein_coding	YES	CCDS44612.1			878/1860									lung(2)|central_nervous_system(1)	3	c.(877-879)AAT>AGT			hmmpanther:PTHR12622,hmmpanther:PTHR12622:SF5	deltex 4 homolog				ENSP00000227451		9-Feb									COSM2151813,COSM2151812	9-Feb	.		ENST00000227451	Transcript			Notch signaling pathway	cytoplasm	zinc ion binding	ENSG00000110042	g.chr11:58949878A>G	29151			MODERATE		1.335	low	getma.org/?cm=msa&ty=f&p=DTX4_HUMAN&rb=156&re=355&var=N293S	NA	getma.org/?cm=var&var=hg19,11,58949878,A,G&fts=all	N293S	--	--	1																																		DTX4_uc001nnr.2_Missense_Mutation_p.N187S	1,1	1		benign(0)	p.N293S	NM_015177	NP_055992		tolerated(0.87)	1,1	DTX4_HUMAN	DTX4	HGNC	Q9Y2E6	DTX4_HUMAN					2	1135	+		all_epithelial(135;0.125)	UPI00001C1F00	293					SNV	DTX4,missense_variant,p.Asn293Ser,ENST00000227451,NM_015177.1;DTX4,missense_variant,p.Asn187Ser,ENST00000532982,;DTX4,upstream_gene_variant,,ENST00000531902,;	uc001nns.2	c.878A>G	982/5642	3	3			c.878A>G						11	SNP	c.(877-879)AAT>AGT	6	6			lung(2)|central_nervous_system(1)	3	Broad	deltex 4 homolog			58949878		0.612	ENSG00000110042	4713	g.chr11:58949878A>G	Notch signaling pathway	cytoplasm	zinc ion binding							46.248958	KEEP	4	11	-1	7	12	4	11	-1	46.27777	7	12	0.466667	1	0	0	0	0	1	0	0	0	--	--		0	G			DTX4_uc001nnr.2_Missense_Mutation_p.N187S	68	GBM-06-0747-TP	p.N293S	A	GCCACCTTGAATCGTACCAAC	NM_015177	NP_055992	58949878	Q9Y2E6	DTX4_HUMAN	0			2	1135	+	G	G		all_epithelial(135;0.125)	Missense_Mutation	293						
DTX4	23220		GRCh37	11	58949764	58949764	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000227451.3:c.764C>T	p.Ser255Leu	p.S255L	ENST00000227451	NM_015177.1	255	tCg/tTg	0																																																																																																																																																																																																																																												
DUOX2	0	broad.mit.edu	GRCh37	15	45393418	45393418	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs146664125	byFrequency	TCGA-19-2624-01	TCGA-19-2624-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000603300.1:c.2906G>A	p.Arg969Gln	p.R969Q	ENST00000603300	NM_014080.4	969	cGg/cAg	0	T:0.0002	T:0.0008	1	T:0		T	R/Q	uc010bea.2	protein_coding	YES	CCDS10117.1			2906/4647									ovary(2)|skin(2)|pancreas(1)	5	c.(2905-2907)CGG>CAG			hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF53	dual oxidase 2 precursor		T:0	T:0.0014	ENSP00000475084	T:0	22/34	0.00142	0.000437			0.00162	0.00249	0.00355		rs146664125,COSM3401764	22/34	common_variant		ENST00000603300	Transcript	1	T:0.0002	cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	ENSG00000140279	g.chr15:45393418C>T	13273			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=DUOX2_HUMAN&rb=885&re=1083&var=R969Q	NA	getma.org/?cm=var&var=hg19,15,45393418,C,T&fts=all	R969Q	--	--	1																																		DUOX2_uc001zun.2_Missense_Mutation_p.R969Q	0,1	1		benign(0.045)	p.R969Q	NM_014080	NP_054799	T:0	tolerated(0.49)	0,1	DUOX2_HUMAN	DUOX2	HGNC	Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	S6B490_HUMAN		22	3109	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	UPI000013D775	969			Cytoplasmic (Potential).|Interaction with TXNDC11 (By similarity).		SNV	DUOX2,missense_variant,p.Arg969Gln,ENST00000389039,;DUOX2,missense_variant,p.Arg969Gln,ENST00000603300,NM_014080.4;DUOX2,non_coding_transcript_exon_variant,,ENST00000558383,;DUOX2,non_coding_transcript_exon_variant,,ENST00000558416,;DUOX2,upstream_gene_variant,,ENST00000560797,;	uc010bea.2	c.2906G>A	3109/6345	1	1			c.2906G>A						15	SNP	c.(2905-2907)CGG>CAG	3	3			ovary(2)|skin(2)|pancreas(1)	5	Broad	dual oxidase 2 precursor			45393418		0.547	ENSG00000140279	4716	g.chr15:45393418C>T	cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity							29.531326	KEEP	6	9	-1	19	20	6	9	-1	32.189769	19	20	0.244444	1	0	0	0	0	1	0	0	0	--	--		0	T			DUOX2_uc001zun.2_Missense_Mutation_p.R969Q	164	GBM-19-2624-TP	p.R969Q	C	CCCAGGTGTCCGAGTGATGAA	NM_014080	NP_054799	45393418	Q9NRD8	DUOX2_HUMAN	0		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	22	3109	-	T	T		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	Missense_Mutation	969			Cytoplasmic (Potential).|Interaction with TXNDC11 (By similarity).			
DUOX2	0	broad.mit.edu	GRCh37	15	45401132	45401132	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01	TCGA-19-2629-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000603300.1:c.1253G>A	p.Gly418Asp	p.G418D	ENST00000603300	NM_014080.4	418	gGc/gAc	0			1			T	G/D	uc010bea.2	protein_coding	YES	CCDS10117.1			1253/4647									ovary(2)|skin(2)|pancreas(1)	5	c.(1252-1254)GGC>GAC			Gene3D:1.10.640.10,Pfam_domain:PF03098,PROSITE_profiles:PS50292,hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF53,Superfamily_domains:SSF48113	dual oxidase 2 precursor				ENSP00000475084		Dec-34									COSM3401765	Dec-34	.		ENST00000603300	Transcript	1		cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	ENSG00000140279	g.chr15:45401132C>T	13273			MODERATE		2.05	medium	getma.org/?cm=msa&ty=f&p=DUOX2_HUMAN&rb=35&re=560&var=G418D	getma.org/pdb.php?prot=DUOX2_HUMAN&from=35&to=560&var=G418D	getma.org/?cm=var&var=hg19,15,45401132,C,T&fts=all	G418D	--	--	1																																		DUOX2_uc001zun.2_Missense_Mutation_p.G418D	1	1		benign(0.058)	p.G418D	NM_014080	NP_054799		tolerated(0.09)	1	DUOX2_HUMAN	DUOX2	HGNC	Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	S6B490_HUMAN		12	1456	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	UPI000013D775	418			Extracellular (Potential).|Peroxidase-like; mediates peroxidase activity (By similarity).		SNV	DUOX2,missense_variant,p.Gly418Asp,ENST00000389039,;DUOX2,missense_variant,p.Gly418Asp,ENST00000603300,NM_014080.4;DUOX2,non_coding_transcript_exon_variant,,ENST00000558383,;	uc010bea.2	c.1253G>A	1456/6345	1	1			c.1253G>A						15	SNP	c.(1252-1254)GGC>GAC	1	1			ovary(2)|skin(2)|pancreas(1)	5	Broad	dual oxidase 2 precursor			45401132		0.552	ENSG00000140279	4716	g.chr15:45401132C>T	cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity							-4.650337	KEEP	2	3	-1	41	31	2	3	-1	8.388019	41	31	0.061538	1	0	0	0	0	1	0	0	0	--	--		0	T			DUOX2_uc001zun.2_Missense_Mutation_p.G418D	166	GBM-19-2629-TP	p.G418D	C	GGAGAATTTGCCAGGGCCAGG	NM_014080	NP_054799	45401132	Q9NRD8	DUOX2_HUMAN	0		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	12	1456	-	T	T		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	Missense_Mutation	418			Extracellular (Potential).|Peroxidase-like; mediates peroxidase activity (By similarity).			
DUOX2	0	broad.mit.edu	GRCh37	15	45387648	45387648	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-27-1838-01	TCGA-27-1838-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000603300.1:c.4226T>G	p.Met1409Arg	p.M1409R	ENST00000603300	NM_014080.4	1409	aTg/aGg	0			1			C	M/R	uc010bea.2	protein_coding	YES	CCDS10117.1			4226/4647									ovary(2)|skin(2)|pancreas(1)	5	c.(4225-4227)ATG>AGG			Gene3D:3.40.50.80,Pfam_domain:PF08030,hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF53,Superfamily_domains:SSF52343	dual oxidase 2 precursor				ENSP00000475084		31/34									COSM3401763	31/34	.		ENST00000603300	Transcript	1		cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	ENSG00000140279	g.chr15:45387648A>C	13273			MODERATE		0.635	neutral	getma.org/?cm=msa&ty=f&p=DUOX2_HUMAN&rb=1377&re=1531&var=M1409R	getma.org/pdb.php?prot=DUOX2_HUMAN&from=1377&to=1531&var=M1409R	getma.org/?cm=var&var=hg19,15,45387648,A,C&fts=all	M1409R	--	--	1																																		DUOX2_uc001zun.2_Missense_Mutation_p.M1409R	1	1		benign(0.309)	p.M1409R	NM_014080	NP_054799		deleterious(0)	1	DUOX2_HUMAN	DUOX2	HGNC	Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	S6B490_HUMAN		31	4429	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	UPI000013D775	1409			Cytoplasmic (Potential).		SNV	DUOX2,missense_variant,p.Met1409Arg,ENST00000389039,;DUOX2,missense_variant,p.Met1409Arg,ENST00000603300,NM_014080.4;DUOX2,downstream_gene_variant,,ENST00000558383,;DUOX2,downstream_gene_variant,,ENST00000560797,;	uc010bea.2	c.4226T>G	4429/6345	3	3			c.4226T>G						15	SNP	c.(4225-4227)ATG>AGG	3	3			ovary(2)|skin(2)|pancreas(1)	5	Broad	dual oxidase 2 precursor			45387648		0.532	ENSG00000140279	4716	g.chr15:45387648A>C	cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity							18.869659	KEEP	8	14	-1	93	82	8	14	-1	47.77771	93	82	0.092486	1	0	0	0	0	1	0	0	0	--	--		0	C			DUOX2_uc001zun.2_Missense_Mutation_p.M1409R	197	GBM-27-1838-TP	p.M1409R	A	CTTACACAGCATTTGGCTGCC	NM_014080	NP_054799	45387648	Q9NRD8	DUOX2_HUMAN	0		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	31	4429	-	C	C		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	Missense_Mutation	1409			Cytoplasmic (Potential).			
DUS3L	56931	broad.mit.edu	GRCh37	19	5790075	5790075	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-5856-01	TCGA-06-5856-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309061.7:c.370T>G	p.Cys124Gly	p.C124G	ENST00000309061	NM_020175.2	124	Tgt/Ggt	0			1			C	C/G	uc002mdc.2	protein_coding	YES	CCDS32880.1			370/1953										0	c.(370-372)TGT>GGT			Gene3D:1m9oA00,PROSITE_profiles:PS50103	dihydrouridine synthase 3-like isoform 1				ENSP00000311977		13-Feb									COSM3404708	13-Feb	.		ENST00000309061	Transcript			tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	ENSG00000141994	g.chr19:5790075A>C	26920			MODERATE		3.11	medium	getma.org/?cm=msa&ty=f&p=DUS3L_HUMAN&rb=1&re=200&var=C124G	NA	getma.org/?cm=var&var=hg19,19,5790075,A,C&fts=all	C124G	--	--	1																																		DUS3L_uc002mdd.2_Intron|DUS3L_uc010duk.2_5'UTR|DUS3L_uc010xiw.1_Intron	1	1		probably_damaging(1)	p.C124G	NM_020175	NP_064560		deleterious(0)	1	DUS3L_HUMAN	DUS3L	HGNC	Q96G46	DUS3L_HUMAN			D6W636_HUMAN		2	467	-			UPI0000140953	124			C3H1-type 1.		SNV	DUS3L,missense_variant,p.Cys124Gly,ENST00000309061,NM_020175.2;DUS3L,missense_variant,p.Cys68Gly,ENST00000592491,;DUS3L,intron_variant,,ENST00000320699,NM_001161619.1;DUS3L,upstream_gene_variant,,ENST00000590343,;CTB-54O9.9,upstream_gene_variant,,ENST00000586012,;DUS3L,non_coding_transcript_exon_variant,,ENST00000590681,;DUS3L,splice_region_variant,,ENST00000590110,;DUS3L,3_prime_UTR_variant,,ENST00000585587,;DUS3L,non_coding_transcript_exon_variant,,ENST00000589085,;DUS3L,non_coding_transcript_exon_variant,,ENST00000589854,;DUS3L,upstream_gene_variant,,ENST00000592468,;DUS3L,upstream_gene_variant,,ENST00000591560,;DUS3L,upstream_gene_variant,,ENST00000592673,;DUS3L,upstream_gene_variant,,ENST00000589841,;DUS3L,upstream_gene_variant,,ENST00000590087,;DUS3L,upstream_gene_variant,,ENST00000593229,;	uc002mdc.2	c.370T>G	467/2113	4	4			c.370T>G						19	SNP	c.(370-372)TGT>GGT	35	35				0	Broad	dihydrouridine synthase 3-like isoform 1			5790075		0.607	ENSG00000141994	4722	g.chr19:5790075A>C	tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding							5.799689	KEEP	4	3	-1	29	42	4	3	-1	17.191256	29	42	0.089552	1	0	0	0	0	1	0	0	0	--	--		0	C			DUS3L_uc002mdd.2_Intron|DUS3L_uc010duk.2_5'UTR|DUS3L_uc010xiw.1_Intron	101	GBM-06-5856-TP	p.C124G	A	AGGGAGGGACACAGCCTGTTC	NM_020175	NP_064560	5790075	Q96G46	DUS3L_HUMAN	0			2	467	-	C	C			Missense_Mutation	124			C3H1-type 1.			
DUS3L	0	broad.mit.edu	GRCh37	19	5785666	5785666	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-2571-01	TCGA-41-2571-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309061.7:c.1699G>A	p.Gly567Ser	p.G567S	ENST00000309061	NM_020175.2	567	Ggc/Agc	0			1			T	G/S	uc002mdc.2	protein_coding	YES	CCDS32880.1			1699/1953										0	c.(1699-1701)GGC>AGC			Pfam_domain:PF01207,hmmpanther:PTHR11082,hmmpanther:PTHR11082:SF8,Superfamily_domains:SSF51395	dihydrouridine synthase 3-like isoform 1				ENSP00000311977		13-Nov									COSM3404707	13-Nov	.		ENST00000309061	Transcript			tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	ENSG00000141994	g.chr19:5785666C>T	26920			MODERATE		3.995	high	getma.org/?cm=msa&ty=f&p=DUS3L_HUMAN&rb=308&re=580&var=G567S	NA	getma.org/?cm=var&var=hg19,19,5785666,C,T&fts=all	G567S	--	--	1																																		PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.2_Missense_Mutation_p.G325S|DUS3L_uc010duk.2_Missense_Mutation_p.G232S	1	1		probably_damaging(1)	p.G567S	NM_020175	NP_064560		deleterious(0)	1	DUS3L_HUMAN	DUS3L	HGNC	Q96G46	DUS3L_HUMAN			D6W636_HUMAN		11	1796	-			UPI0000140953	567					SNV	DUS3L,missense_variant,p.Gly567Ser,ENST00000309061,NM_020175.2;DUS3L,missense_variant,p.Gly325Ser,ENST00000320699,NM_001161619.1;DUS3L,missense_variant,p.Gly35Ser,ENST00000590343,;PRR22,upstream_gene_variant,,ENST00000390672,;PRR22,upstream_gene_variant,,ENST00000419421,NM_001134316.1;DUS3L,downstream_gene_variant,,ENST00000592491,;CTB-54O9.9,upstream_gene_variant,,ENST00000586012,;DUS3L,downstream_gene_variant,,ENST00000590681,;DUS3L,3_prime_UTR_variant,,ENST00000592468,;DUS3L,3_prime_UTR_variant,,ENST00000591560,;DUS3L,non_coding_transcript_exon_variant,,ENST00000589085,;DUS3L,non_coding_transcript_exon_variant,,ENST00000592673,;DUS3L,non_coding_transcript_exon_variant,,ENST00000589841,;DUS3L,downstream_gene_variant,,ENST00000590110,;DUS3L,downstream_gene_variant,,ENST00000585587,;DUS3L,downstream_gene_variant,,ENST00000589854,;DUS3L,downstream_gene_variant,,ENST00000590087,;DUS3L,downstream_gene_variant,,ENST00000593229,;	uc002mdc.2	c.1699G>A	1796/2113	2	2			c.1699G>A						19	SNP	c.(1699-1701)GGC>AGC	47	47				0	Broad	dihydrouridine synthase 3-like isoform 1			5785666		0.706	ENSG00000141994	4722	g.chr19:5785666C>T	tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding							41.271022	KEEP	9	12	-1	15	23	9	12	-1	42.287386	15	23	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	T			PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.2_Missense_Mutation_p.G325S|DUS3L_uc010duk.2_Missense_Mutation_p.G232S	250	GBM-41-2571-TP	p.G567S	C	TTCTCCACGCCCTGCGTGTCC	NM_020175	NP_064560	5785666	Q96G46	DUS3L_HUMAN	0			11	1796	-	T	T			Missense_Mutation	567						
DUS4L	11062	broad.mit.edu	GRCh37	7	107214222	107214222	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-2557-01	TCGA-06-2557-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265720.3:c.312T>G	p.Cys104Trp	p.C104W	ENST00000265720	NM_001270419.1	104	tgT/tgG	0			1			G	C/W	uc003veh.2	protein_coding	YES	CCDS5745.1			312/954										0	c.(310-312)TGT>TGG			Gene3D:3.20.20.70,Pfam_domain:PF01207,PIRSF_domain:PIRSF006621,hmmpanther:PTHR11082,hmmpanther:PTHR11082:SF25,Superfamily_domains:SSF51395	dihydrouridine synthase 4-like				ENSP00000265720		8-May									COSM2152524	8-May	.		ENST00000265720	Transcript			tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	ENSG00000105865	g.chr7:107214222T>G	21517			MODERATE		1.24	low	getma.org/?cm=msa&ty=f&p=DUS4L_HUMAN&rb=30&re=310&var=C104W	getma.org/pdb.php?prot=DUS4L_HUMAN&from=30&to=310&var=C104W	getma.org/?cm=var&var=hg19,7,107214222,T,G&fts=all	C104W	--	--	1																																		DUS4L_uc003veg.2_Intron|DUS4L_uc011klw.1_Intron|DUS4L_uc011klx.1_5'UTR|DUS4L_uc010ljl.2_5'Flank	1	1		possibly_damaging(0.537)	p.C104W	NM_181581	NP_853559		tolerated(0.15)	1	DUS4L_HUMAN	DUS4L	HGNC	O95620	DUS4L_HUMAN			A4D0R5_HUMAN,F8WEL2_HUMAN,B4DFH2_HUMAN		5	645	+			UPI000006DD5D	104					SNV	DUS4L,missense_variant,p.Cys104Trp,ENST00000265720,NM_001270419.1,NM_181581.2;DUS4L,intron_variant,,ENST00000402620,;DUS4L,missense_variant,p.Cys104Trp,ENST00000443233,;DUS4L,3_prime_UTR_variant,,ENST00000458611,;DUS4L,intron_variant,,ENST00000436411,;DUS4L,intron_variant,,ENST00000471763,;DUS4L,intron_variant,,ENST00000422290,;DUS4L,intron_variant,,ENST00000431839,;DUS4L,upstream_gene_variant,,ENST00000485825,;DUS4L,upstream_gene_variant,,ENST00000497798,;	uc003veh.2	c.312T>G	674/2217	3	3			c.312T>G						7	SNP	c.(310-312)TGT>TGG	56	56				0	Broad	dihydrouridine synthase 4-like			107214222		0.383	ENSG00000105865	4723	g.chr7:107214222T>G	tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity							467.209046	KEEP	81	58	-1	124	99	81	58	-1	470.903849	124	99	0.390313	1	0	0	0	0	1	0	0	0	--	--		0	G			DUS4L_uc003veg.2_Intron|DUS4L_uc011klw.1_Intron|DUS4L_uc011klx.1_5'UTR|DUS4L_uc010ljl.2_5'Flank	81	GBM-06-2557-TP	p.C104W	T	GTATAGTCTGTCCTTATGCGA	NM_181581	NP_853559	107214222	O95620	DUS4L_HUMAN	0			5	645	+	G	G			Missense_Mutation	104						
DUS4L	0	broad.mit.edu	GRCh37	7	107217955	107217955	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-19-1390-01	TCGA-19-1390-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265720.3:c.904T>G	p.Ser302Ala	p.S302A	ENST00000265720	NM_001270419.1	302	Tca/Gca	0			1			G	S/A	uc003veh.2	protein_coding	YES	CCDS5745.1			904/954										0	c.(904-906)TCA>GCA			PIRSF_domain:PIRSF006621,hmmpanther:PTHR11082,hmmpanther:PTHR11082:SF25,Superfamily_domains:SSF51395	dihydrouridine synthase 4-like				ENSP00000265720		8-Aug									COSM3411456	8-Aug	.		ENST00000265720	Transcript			tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	ENSG00000105865	g.chr7:107217955T>G	21517			MODERATE		1.675	low	getma.org/?cm=msa&ty=f&p=DUS4L_HUMAN&rb=30&re=310&var=S302A	NA	getma.org/?cm=var&var=hg19,7,107217955,T,G&fts=all	S302A	--	--	1																																		DUS4L_uc003veg.2_Missense_Mutation_p.S181A|DUS4L_uc011klw.1_RNA|DUS4L_uc011klx.1_Missense_Mutation_p.S181A|DUS4L_uc010ljl.2_Missense_Mutation_p.S212A|BCAP29_uc003vej.2_5'Flank|BCAP29_uc011kly.1_5'Flank|BCAP29_uc011klz.1_5'Flank	1	1		benign(0.014)	p.S302A	NM_181581	NP_853559		tolerated(0.15)	1	DUS4L_HUMAN	DUS4L	HGNC	O95620	DUS4L_HUMAN			A4D0R5_HUMAN,F8WEL2_HUMAN,B4DFH2_HUMAN		8	1237	+			UPI000006DD5D	302					SNV	DUS4L,missense_variant,p.Ser302Ala,ENST00000265720,NM_001270419.1,NM_181581.2;DUS4L,missense_variant,p.Ser181Ala,ENST00000402620,;BCAP29,upstream_gene_variant,,ENST00000379119,NM_001008405.2;BCAP29,upstream_gene_variant,,ENST00000005259,NM_018844.3;BCAP29,upstream_gene_variant,,ENST00000379117,;BCAP29,upstream_gene_variant,,ENST00000445771,;BCAP29,upstream_gene_variant,,ENST00000457837,;BCAP29,upstream_gene_variant,,ENST00000465919,;BCAP29,upstream_gene_variant,,ENST00000479917,;BCAP29,upstream_gene_variant,,ENST00000473124,;BCAP29,upstream_gene_variant,,ENST00000421217,;RP4-593H12.1,downstream_gene_variant,,ENST00000610269,;BCAP29,upstream_gene_variant,,ENST00000494086,;BCAP29,upstream_gene_variant,,ENST00000466094,;DUS4L,3_prime_UTR_variant,,ENST00000436411,;DUS4L,3_prime_UTR_variant,,ENST00000443233,;DUS4L,3_prime_UTR_variant,,ENST00000422290,;DUS4L,3_prime_UTR_variant,,ENST00000431839,;DUS4L,non_coding_transcript_exon_variant,,ENST00000485825,;DUS4L,downstream_gene_variant,,ENST00000471763,;BCAP29,upstream_gene_variant,,ENST00000482371,;DUS4L,downstream_gene_variant,,ENST00000458611,;BCAP29,upstream_gene_variant,,ENST00000442065,;DUS4L,downstream_gene_variant,,ENST00000497798,;BCAP29,upstream_gene_variant,,ENST00000486326,;	uc003veh.2	c.904T>G	1266/2217	4	4			c.904T>G						7	SNP	c.(904-906)TCA>GCA	20	20				0	Broad	dihydrouridine synthase 4-like			107217955		0.353	ENSG00000105865	4723	g.chr7:107217955T>G	tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity							131.011526	KEEP	18	26	-1	57	58	18	26	-1	137.209799	57	58	0.283784	1	0	0	0	0	1	0	0	0	--	--		0	G			DUS4L_uc003veg.2_Missense_Mutation_p.S181A|DUS4L_uc011klw.1_RNA|DUS4L_uc011klx.1_Missense_Mutation_p.S181A|DUS4L_uc010ljl.2_Missense_Mutation_p.S212A|BCAP29_uc003vej.2_5'Flank|BCAP29_uc011kly.1_5'Flank|BCAP29_uc011klz.1_5'Flank	159	GBM-19-1390-TP	p.S302A	T	TAATGCTCTGTCAAGCACATC	NM_181581	NP_853559	107217955	O95620	DUS4L_HUMAN	0			8	1237	+	G	G			Missense_Mutation	302						
DUSP22	0	broad.mit.edu	GRCh37	6	335117	335117	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-14-1825-01	TCGA-14-1825-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344450.5:c.142G>T	p.Val48Phe	p.V48F	ENST00000344450	NM_020185.3	48	Gtt/Ttt	0			1			T	V/F	uc003msx.2	protein_coding	YES	CCDS4468.1			142/555									ovary(1)|kidney(1)|central_nervous_system(1)	3	c.(142-144)GTT>TTT			Gene3D:3.90.190.10,Pfam_domain:PF00782,PROSITE_profiles:PS50054,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF29,SMART_domains:SM00195,Superfamily_domains:SSF52799	dual specificity phosphatase 22				ENSP00000345281		8-Apr									COSM3411011	8-Apr	.		ENST00000344450	Transcript			apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000112679	g.chr6:335117G>T	16077			MODERATE		-0.015	neutral	getma.org/?cm=msa&ty=f&p=DUS22_HUMAN&rb=12&re=141&var=V48F	getma.org/pdb.php?prot=DUS22_HUMAN&from=12&to=141&var=V48F	getma.org/?cm=var&var=hg19,6,335117,G,T&fts=all	V48F	--	--	1																																		DUSP22_uc011dhn.1_Missense_Mutation_p.V48F|DUSP22_uc003msy.1_Missense_Mutation_p.V5F	1	1		possibly_damaging(0.635)	p.V48F	NM_020185	NP_064570		deleterious(0.01)	1	DUS22_HUMAN	DUSP22	HGNC	Q9NRW4	DUS22_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	S4R3A4_HUMAN		4	581	+	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)	UPI0000036A3C	48					SNV	DUSP22,missense_variant,p.Val48Phe,ENST00000419235,NM_001286555.1;DUSP22,missense_variant,p.Val48Phe,ENST00000344450,NM_020185.3;DUSP22,missense_variant,p.Val5Phe,ENST00000603296,;DUSP22,5_prime_UTR_variant,,ENST00000603453,;DUSP22,intron_variant,,ENST00000604971,;DUSP22,intron_variant,,ENST00000605035,;DUSP22,intron_variant,,ENST00000605315,;DUSP22,intron_variant,,ENST00000605863,;DUSP22,intron_variant,,ENST00000603881,;DUSP22,non_coding_transcript_exon_variant,,ENST00000603290,;DUSP22,intron_variant,,ENST00000605391,;DUSP22,intron_variant,,ENST00000603005,;DUSP22,upstream_gene_variant,,ENST00000604914,;DUSP22,upstream_gene_variant,,ENST00000604988,;DUSP22,intron_variant,,ENST00000603795,;DUSP22,intron_variant,,ENST00000603726,;	uc003msx.2	c.142G>T	585/1485	2	2			c.142G>T						6	SNP	c.(142-144)GTT>TTT	35	35			ovary(1)|kidney(1)|central_nervous_system(1)	3	Broad	dual specificity phosphatase 22			335117		0.299	ENSG00000112679	4736	g.chr6:335117G>T	apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity							20.773468	KEEP	8	6	0.571428571	69	36	8	6	0.571428571	34.71649	69	36	0.132075	1	0	0	0	0	1	0	0	0	--	--		0	T			DUSP22_uc011dhn.1_Missense_Mutation_p.V48F|DUSP22_uc003msy.1_Missense_Mutation_p.V5F	148	GBM-14-1825-TP	p.V48F	G	TCTGCAGGGAGTTAAATACCT	NM_020185	NP_064570	335117	Q9NRW4	DUS22_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	4	581	+	T	T	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)	Missense_Mutation	48						
DUSP27	92235	broad.mit.edu	GRCh37	1	167064116	167064116	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361200.2:c.30G>A	p.Glu10=	p.E10=	ENST00000361200		10	gaG/gaA	0			1			A	E	uc001geb.1	protein_coding		CCDS30932.1			30/3477									ovary(3)	3	c.(28-30)GAG>GAA			Low_complexity_(Seg):seg	dual specificity phosphatase 27				ENSP00000271385		6-Feb									COSM2151790	6-Feb	.		ENST00000271385	Transcript			protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	ENSG00000198842	g.chr1:167064116G>A	25034			LOW								--	--	1																																			1				p.E10E	NM_001080426	NP_001073895			1	DUS27_HUMAN	DUSP27	HGNC	Q5VZP5	DUS27_HUMAN					1	30	+			UPI000040DFF5	10					SNV	DUSP27,synonymous_variant,p.=,ENST00000361200,;DUSP27,synonymous_variant,p.=,ENST00000443333,NM_001080426.1;DUSP27,synonymous_variant,p.=,ENST00000271385,;GPA33,upstream_gene_variant,,ENST00000367868,NM_005814.1;GPA33,upstream_gene_variant,,ENST00000534512,;	uc001geb.1	c.30G>A	150/3597	2	2			c.30G>A						1	SNP	c.(28-30)GAG>GAA	28	28			ovary(3)	3	Broad	dual specificity phosphatase 27			167064116		0.547	ENSG00000198842	4739	g.chr1:167064116G>A	protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity							35.994508	KEEP	7	8	-1	9	9	7	8	-1	36.119323	9	9	0.428571	1	0	0	0	0	0	0	1	0	--	--		0	A				68	GBM-06-0747-TP	p.E10E	G	CAGAGGAGGAGCAGGTAGTCC	NM_001080426	NP_001073895	167064116	Q5VZP5	DUS27_HUMAN	0			1	30	+	A	A			Silent	10						
DUSP27	0	broad.mit.edu	GRCh37	1	167096396	167096396	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-5135-01	TCGA-26-5135-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271385.5:c.2028G>A	p.Thr676=	p.T676=	ENST00000271385		676	acG/acA	0	A:0		1			A	T	uc001geb.1	protein_coding		CCDS30932.1			2028/3477									ovary(3)	3	c.(2026-2028)ACG>ACA			hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF25	dual specificity phosphatase 27			A:0.0001	ENSP00000271385		6-Jun	4.12E-05			0.000116		6.03E-05			rs376593703,COSM2157093	6-Jun	.		ENST00000271385	Transcript			protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	ENSG00000198842	g.chr1:167096396G>A	25034			LOW								--	--	1																																			0,1				p.T676T	NM_001080426	NP_001073895			0,1	DUS27_HUMAN	DUSP27	HGNC	Q5VZP5	DUS27_HUMAN					5	2028	+			UPI000040DFF5	676					SNV	DUSP27,synonymous_variant,p.=,ENST00000361200,;DUSP27,synonymous_variant,p.=,ENST00000443333,NM_001080426.1;DUSP27,synonymous_variant,p.=,ENST00000271385,;DUSP27,intron_variant,,ENST00000485151,;	uc001geb.1	c.2028G>A	2148/3597	1	1			c.2028G>A						1	SNP	c.(2026-2028)ACG>ACA	63	63			ovary(3)	3	Broad	dual specificity phosphatase 27			167096396		0.637	ENSG00000198842	4739	g.chr1:167096396G>A	protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity							64.109362	KEEP	11	13	-1	20	22	11	13	-1	65.22275	20	22	0.359375	1	0	0	0	0	0	0	1	0	--	--		0	A				184	GBM-26-5135-TP	p.T676T	G	GGGACACGACGTCAGTACTGA	NM_001080426	NP_001073895	167096396	Q5VZP5	DUS27_HUMAN	0			5	2028	+	A	A			Silent	676						
DUSP27	92235		GRCh37	1	167097496	167097496	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0151-01	TCGA-06-0151-01																				ENST00000361200.2:c.3128G>A	p.Arg1043His	p.R1043H	ENST00000361200		1043	cGc/cAc	0																																																																																																																																																																																																																																												
DUSP5	1847		GRCh37	10	112269798	112269798	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000369583.3:c.769G>A	p.Gly257Ser	p.G257S	ENST00000369583	NM_004419.3	257	Ggc/Agc	0																																																																																																																																																																																																																																												
DUSP8	1850		GRCh37	11	1577819	1577820	+	frameshift_variant	Frame_Shift_Del	DEL	CG	CG	-			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000397374.3:c.1806_1807del	p.Gly603ArgfsTer45	p.G603Rfs*45	ENST00000397374	NM_004420.2	602	cgCGgc/cggc	0																																																																																																																																																																																																																																												
DUSP9	0	broad.mit.edu	GRCh37	X	152915703	152915703	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5954-01	TCGA-19-5954-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342782.3:c.1098G>A	p.Pro366=	p.P366=	ENST00000342782		366	ccG/ccA	0			1			A	P	uc004fhx.3	protein_coding	YES	CCDS14724.1			1098/1155									ovary(2)	2	c.(1096-1098)CCG>CCA			PIRSF_domain:PIRSF000939,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF44	dual specificity phosphatase 9				ENSP00000345853		4-Apr	8.24E-05					0.000152			rs782335794,COSM2156750	4-Apr	.		ENST00000342782	Transcript			inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	ENSG00000130829	g.chrX:152915703G>A	3076			LOW								--	--	1																																		DUSP9_uc004fhy.3_Silent_p.P366P	0,1	1			p.P366P	NM_001395	NP_001386			0,1	DUS9_HUMAN	DUSP9	HGNC	Q99956	DUS9_HUMAN			P78512_HUMAN		4	1302	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		UPI0000049C1B	366			Tyrosine-protein phosphatase.		SNV	DUSP9,synonymous_variant,p.=,ENST00000342782,;DUSP9,synonymous_variant,p.=,ENST00000370167,NM_001395.2;DUSP9,downstream_gene_variant,,ENST00000477033,;	uc004fhx.3	c.1098G>A	1363/2433	1	1			c.1098G>A						23	SNP	c.(1096-1098)CCG>CCA	49	49			ovary(2)	2	Broad	dual specificity phosphatase 9			152915703		0.716	ENSG00000130829	4747	g.chrX:152915703G>A	inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity							84.988063	KEEP	17	18	-1	20	24	17	18	-1	85.267948	20	24	0.434211	1	0	0	0	0	0	0	1	0	--	--		0	A			DUSP9_uc004fhy.3_Silent_p.P366P	174	GBM-19-5954-TP	p.P366P	G	CCTCCAACCCGCCCTCCTTCT	NM_001395	NP_001386	152915703	Q99956	DUS9_HUMAN	0			4	1302	+	A	A	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		Silent	366			Tyrosine-protein phosphatase.			
DUX4L13	100289581		GRCh37	10	135491165	135491165	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000420742.2:n.894C>T		p.*298*	ENST00000420742				0																																																																																																																																																																																																																																												
DUXA	503835	broad.mit.edu	GRCh37	19	57669795	57669795	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0882-01	TCGA-06-0882-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000554048.2:c.339A>G	p.Leu113=	p.L113=	ENST00000554048	NM_001012729.1	113	ttA/ttG	0			1			C	L	uc002qoa.1	protein_coding	YES	CCDS33126.1			339/615									ovary(1)	1	c.(337-339)TTA>TTG			Superfamily_domains:SSF46689,SMART_domains:SM00389,Gene3D:1.10.10.60,Pfam_domain:PF00046,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF312,PROSITE_profiles:PS50071	double homeobox A				ENSP00000452398		6-Apr	8.24E-06			0.000116					rs747050180,COSM2152355	6-Apr	.		ENST00000554048	Transcript				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000258873	g.chr19:57669795T>C	32179			LOW								--	--	1																																			0,1	1			p.L113L	NM_001012729	NP_001012747			0,1	DUXA_HUMAN	DUXA	HGNC	A6NLW8	DUXA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)			4	384	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	UPI0000198B7E	113			Homeobox 2.		SNV	DUXA,synonymous_variant,p.=,ENST00000554048,NM_001012729.1;	uc002qoa.1	c.339A>G	339/1006	3	3			c.339A>G						19	SNP	c.(337-339)TTA>TTG	60	60			ovary(1)	1	Broad	double homeobox A			57669795		0.488	ENSG00000258873	4749	g.chr19:57669795T>C		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							141.811768	KEEP	28	21	-1	71	57	28	21	-1	150.309171	71	57	0.264706	1	0	0	0	0	0	0	1	0	--	--		0	C				77	GBM-06-0882-TP	p.L113L	T	TGAGAGTGTGTAACTGAGAGG	NM_001012729	NP_001012747	57669795	A6NLW8	DUXA_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)	4	384	-	C	C		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	Silent	113			Homeobox 2.			
DUXA	0	broad.mit.edu	GRCh37	19	57669765	57669766	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-12-0615-01	TCGA-12-0615-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000554048.2:c.368dupA	p.Asn123LysfsTer7	p.N123Kfs*7	ENST00000554048	NM_001012729.1	123	aac/aaAc	0			1			T	N/KX	uc002qoa.1	protein_coding	YES	CCDS33126.1			368-369/615									ovary(1)	1	c.(367-369)AACfs			Superfamily_domains:SSF46689,SMART_domains:SM00389,Gene3D:1.10.10.60,Pfam_domain:PF00046,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF312,PROSITE_profiles:PS50071	double homeobox A				ENSP00000452398		6-Apr										6-Apr	.		ENST00000554048	Transcript				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000258873	g.chr19:57669765_57669766insT	32179			HIGH								--	--	1																																				1			p.N123fs	NM_001012729	NP_001012747				DUXA_HUMAN	DUXA	HGNC	A6NLW8	DUXA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)			4	413_414	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	UPI0000198B7E	123			Homeobox 2.		insertion	DUXA,frameshift_variant,p.Asn123LysfsTer7,ENST00000554048,NM_001012729.1;	uc002qoa.1	c.368_369insA	368-369/1006	5	5			c.368_369insA						19	INS	c.(367-369)AACfs	10	10			ovary(1)	1	Broad	double homeobox A			57669766		0.47	ENSG00000258873	4749	g.chr19:57669765_57669766insT		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity																				0.41	1	0	0	1	1	0	0	0	0	--	--		0	T				117	GBM-12-0615-TP	p.N123fs	-	CAGGATATGGGTTTTTCATAAA	NM_001012729	NP_001012747	57669765	A6NLW8	DUXA_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)	4	413_414	-	T	T		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	Frame_Shift_Ins	123			Homeobox 2.			
DVL1	0	broad.mit.edu	GRCh37	1	1275475	1275475	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01	TCGA-27-1834-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378888.5:c.852G>A	p.Met284Ile	p.M284I	ENST00000378888		284	atG/atA	0			1			T	M/I	uc001aer.3	protein_coding					852/2088										0	c.(850-852)ATG>ATA			PROSITE_profiles:PS50106,hmmpanther:PTHR10878,hmmpanther:PTHR10878:SF5,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	dishevelled 1				ENSP00000368166		15-Aug									COSM3399625	15-Aug	.		ENST00000378888	Transcript	1		canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	ENSG00000107404	g.chr1:1275475C>T	3084			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=DVL1L_HUMAN&rb=251&re=336&var=M284I	getma.org/pdb.php?prot=DVL1L_HUMAN&from=251&to=336&var=M284I	getma.org/?cm=var&var=hg19,1,1275475,C,T&fts=all	M284I	--	--	1																																		DVL1_uc002quu.2_Missense_Mutation_p.M1I|DVL1_uc009vka.2_5'UTR|DVL1_uc001aeu.1_5'UTR	1			possibly_damaging(0.78)	p.M284I	NM_004421	NP_004412		deleterious(0)	1	DVL1_HUMAN	DVL1	HGNC	O14640	DVL1_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	B7Z6B5_HUMAN		8	899	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	UPI00001AF922	284			PDZ.		SNV	DVL1,missense_variant,p.Met284Ile,ENST00000378888,;DVL1,missense_variant,p.Met284Ile,ENST00000378891,NM_004421.2;TAS1R3,downstream_gene_variant,,ENST00000339381,NM_152228.1;DVL1,downstream_gene_variant,,ENST00000472445,;	uc001aer.3	c.852G>A	1137/3239	2	2			c.852G>A						1	SNP	c.(850-852)ATG>ATA	43	43				0	Broad	dishevelled 1			1275475		0.627	ENSG00000107404	4750	g.chr1:1275475C>T	canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			137			137	23.468296	KEEP	11	5	-1	15	21	11	5	-1	24.395346	15	21	0.310345	1	0	0	0	0	1	0	0	0	--	--		0	T			DVL1_uc002quu.2_Missense_Mutation_p.M1I|DVL1_uc009vka.2_5'UTR|DVL1_uc001aeu.1_5'UTR	193	GBM-27-1834-TP	p.M284I	C	CCCCGCCCTTCATGATGGAGC	NM_004421	NP_004412	1275475	O14640	DVL1_HUMAN	0		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	8	899	-	T	T	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	Missense_Mutation	284			PDZ.			
DVL2	1856	broad.mit.edu	GRCh37	17	7132476	7132476	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0173-01	TCGA-06-0173-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000005340.5:c.935A>G	p.Glu312Gly	p.E312G	ENST00000005340	NM_004422.2	312	gAg/gGg	0			1			C	E/G	uc002gez.1	protein_coding	YES	CCDS11091.1			935/2211									lung(1)|kidney(1)	2	c.(934-936)GAG>GGG			Superfamily_domains:SSF50156,SMART_domains:SM00228,Gene3D:2.30.42.10,Pfam_domain:PF00595,hmmpanther:PTHR10878:SF8,hmmpanther:PTHR10878,PROSITE_profiles:PS50106	dishevelled 2				ENSP00000005340		15-Aug									COSM3748026	15-Aug	.		ENST00000005340	Transcript			canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	ENSG00000004975	g.chr17:7132476T>C	3086			MODERATE		2.5	medium	getma.org/?cm=msa&ty=f&p=DVL2_HUMAN&rb=267&re=352&var=E312G	getma.org/pdb.php?prot=DVL2_HUMAN&from=267&to=352&var=E312G	getma.org/?cm=var&var=hg19,17,7132476,T,C&fts=all	E312G	--	--	1																																		DVL2_uc010vtr.1_Missense_Mutation_p.E306G|DVL2_uc010vts.1_3'UTR	1	1		probably_damaging(0.987)	p.E312G	NM_004422	NP_004413		deleterious(0)	1	DVL2_HUMAN	DVL2	HGNC	O14641	DVL2_HUMAN			B4E2D6_HUMAN		8	1217	-			UPI0000000DE9	312			PDZ.		SNV	DVL2,missense_variant,p.Glu312Gly,ENST00000005340,NM_004422.2;DVL2,missense_variant,p.Glu306Gly,ENST00000575458,;DVL2,missense_variant,p.Glu308Gly,ENST00000575756,;DVL2,missense_variant,p.Glu246Gly,ENST00000574143,;ACADVL,downstream_gene_variant,,ENST00000356839,NM_001270448.1,NM_000018.3;ACADVL,downstream_gene_variant,,ENST00000543245,NM_001270447.1;ACADVL,downstream_gene_variant,,ENST00000350303,NM_001033859.2;ACADVL,downstream_gene_variant,,ENST00000542255,;DVL2,upstream_gene_variant,,ENST00000575086,;ACADVL,downstream_gene_variant,,ENST00000579546,;DVL2,non_coding_transcript_exon_variant,,ENST00000574642,;ACADVL,downstream_gene_variant,,ENST00000583074,;DVL2,non_coding_transcript_exon_variant,,ENST00000574591,;DVL2,non_coding_transcript_exon_variant,,ENST00000577154,;DVL2,non_coding_transcript_exon_variant,,ENST00000573354,;ACADVL,downstream_gene_variant,,ENST00000322910,;ACADVL,downstream_gene_variant,,ENST00000578711,;DVL2,downstream_gene_variant,,ENST00000572285,;ACADVL,downstream_gene_variant,,ENST00000579425,;ACADVL,downstream_gene_variant,,ENST00000583858,;DVL2,downstream_gene_variant,,ENST00000576949,;ACADVL,downstream_gene_variant,,ENST00000585203,;DVL2,upstream_gene_variant,,ENST00000576840,;ACADVL,downstream_gene_variant,,ENST00000583850,;ACADVL,downstream_gene_variant,,ENST00000578319,;ACADVL,downstream_gene_variant,,ENST00000578809,;DVL2,upstream_gene_variant,,ENST00000576285,;DVL2,downstream_gene_variant,,ENST00000576439,;ACADVL,downstream_gene_variant,,ENST00000578033,;DVL2,upstream_gene_variant,,ENST00000571745,;ACADVL,downstream_gene_variant,,ENST00000583848,;ACADVL,downstream_gene_variant,,ENST00000579894,;ACADVL,downstream_gene_variant,,ENST00000579391,;ACADVL,downstream_gene_variant,,ENST00000582450,;	uc002gez.1	c.935A>G	1218/3018	3	3			c.935A>G						17	SNP	c.(934-936)GAG>GGG	11	11			lung(1)|kidney(1)	2	Broad	dishevelled 2			7132476		0.637	ENSG00000004975	4751	g.chr17:7132476T>C	canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity							-11.867352	KEEP	3	1	-1	51	53	3	1	-1	9.790242	51	53	0.041667	1	0	0	0	0	1	0	0	0	--	--		0	C			DVL2_uc010vtr.1_Missense_Mutation_p.E306G|DVL2_uc010vts.1_3'UTR	36	GBM-06-0173-TP	p.E312G	T	GTCCCCTGGCTCAATGCGCCC	NM_004422	NP_004413	7132476	O14641	DVL2_HUMAN	0			8	1217	-	C	C			Missense_Mutation	312			PDZ.			
DVL3	1857		GRCh37	3	183884692	183884692	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0165-01	TCGA-06-0165-01																				ENST00000313143.3:c.1127G>A	p.Gly376Asp	p.G376D	ENST00000313143	NM_004423.3	376	gGc/gAc	0																																																																																																																																																																																																																																												
DYNAP	284254	broad.mit.edu	GRCh37	18	52265157	52265157	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0876-01	TCGA-06-0876-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321600.1:c.414C>A	p.Asn138Lys	p.N138K	ENST00000321600	NM_173629.1	138	aaC/aaA	0			1			A	N/K	uc002lfq.1	protein_coding	YES	CCDS11957.1			414/633										0	c.(412-414)AAC>AAA				hypothetical protein LOC284254				ENSP00000315265		3-Mar									COSM2152095	3-Mar	.		ENST00000321600	Transcript				integral to membrane		ENSG00000178690	g.chr18:52265157C>A	26808			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=CR026_HUMAN&rb=2&re=208&var=N138K	NA	getma.org/?cm=var&var=hg19,18,52265157,C,A&fts=all	N138K	--	--	1																																		C18orf26_uc002lfp.1_Missense_Mutation_p.N86K	1	1		possibly_damaging(0.859)	p.N138K	NM_173629	NP_775900		tolerated(0.09)	1	DYNAP_HUMAN	DYNAP	HGNC	Q8N1N2	CR026_HUMAN		Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)			3	460	+			UPI000006F69E	138					SNV	DYNAP,missense_variant,p.Asn138Lys,ENST00000321600,NM_173629.1;DYNAP,missense_variant,p.Asn86Lys,ENST00000585973,;	uc002lfq.1	c.414C>A	460/2027	2	2			c.414C>A						18	SNP	c.(412-414)AAC>AAA	24	24				0	Broad	hypothetical protein LOC284254			52265157		0.453	ENSG00000178690	1858	g.chr18:52265157C>A		integral to membrane								133.144654	KEEP	31	18	0.367346939	49	29	31	18	0.367346939	135.090113	49	29	0.365854	1	0	0	0	0	1	0	0	0	--	--		0	A			C18orf26_uc002lfp.1_Missense_Mutation_p.N86K	72	GBM-06-0876-TP	p.N138K	C	TGGTGAATAACAAAGGATCGG	NM_173629	NP_775900	52265157	Q8N1N2	CR026_HUMAN	0		Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)	3	460	+	A	A			Missense_Mutation	138						
DYNC1H1	1778		GRCh37	14	102514280	102514280	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000360184.4:c.13133G>A	p.Arg4378Gln	p.R4378Q	ENST00000360184	NM_001376.4	4378	cGg/cAg	0																																																																																																																																																																																																																																												
DYNC1H1	1778		GRCh37	14	102467294	102467294	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000360184.4:c.4078C>T	p.Arg1360Ter	p.R1360*	ENST00000360184	NM_001376.4	1360	Cga/Tga	0																																																																																																																																																																																																																																												
DYNC1I1	1780	broad.mit.edu	GRCh37	7	95657586	95657586	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0129-01	TCGA-06-0129-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324972.6:c.1120C>T	p.Arg374Ter	p.R374*	ENST00000324972	NM_004411.4	374	Cga/Tga	0			1			T	R/*	uc003uoc.3	protein_coding	YES	CCDS5644.1			1120/1938									ovary(3)|kidney(1)	4	c.(1120-1122)CGA>TGA			Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR12442,hmmpanther:PTHR12442:SF34,Superfamily_domains:SSF50978	dynein, cytoplasmic 1, intermediate chain 1				ENSP00000320130		17-Nov	8.24E-06			0.000116					rs776347302,COSM2149518	17-Nov	.		ENST00000324972	Transcript			vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	ENSG00000158560	g.chr7:95657586C>T	2963			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,95657586,C,T&fts=all	R374*	--	--	1																																		DYNC1I1_uc003uod.3_Nonsense_Mutation_p.R357*|DYNC1I1_uc003uob.2_Nonsense_Mutation_p.R337*|DYNC1I1_uc003uoe.3_Nonsense_Mutation_p.R354*|DYNC1I1_uc010lfl.2_Nonsense_Mutation_p.R363*	0,1	1			p.R374*	NM_004411	NP_004402			0,1	DC1I1_HUMAN	DYNC1I1	HGNC	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		Q75MI9_HUMAN,Q75LS9_HUMAN,A4D1I7_HUMAN		11	1397	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		UPI0000129A01	374			WD 2.		SNV	DYNC1I1,stop_gained,p.Arg374Ter,ENST00000324972,NM_004411.4;DYNC1I1,stop_gained,p.Arg357Ter,ENST00000447467,NM_001135556.1;DYNC1I1,stop_gained,p.Arg354Ter,ENST00000437599,NM_001278421.1;DYNC1I1,stop_gained,p.Arg337Ter,ENST00000359388,NM_001135557.1;DYNC1I1,stop_gained,p.Arg357Ter,ENST00000457059,;DYNC1I1,stop_gained,p.Arg337Ter,ENST00000537881,NM_001278422.1;DYNC1I1,non_coding_transcript_exon_variant,,ENST00000519371,;DYNC1I1,upstream_gene_variant,,ENST00000497626,;	uc003uoc.3	c.1120C>T	1313/2950	5	2			c.1120C>T						7	SNP	c.(1120-1122)CGA>TGA	38	38			ovary(3)|kidney(1)	4	Broad	dynein, cytoplasmic 1, intermediate chain 1			95657586		0.547	ENSG00000158560	4757	g.chr7:95657586C>T	vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity							75.27495	KEEP	19	22	-1	92	66	19	22	-1	90.738073	92	66	0.190751	1	0	0	0	0	0	1	0	0	--	--		0	T			DYNC1I1_uc003uod.3_Nonsense_Mutation_p.R357*|DYNC1I1_uc003uob.2_Nonsense_Mutation_p.R337*|DYNC1I1_uc003uoe.3_Nonsense_Mutation_p.R354*|DYNC1I1_uc010lfl.2_Nonsense_Mutation_p.R363*	15	GBM-06-0129-TP	p.R374*	C	TCGCAGTCATCGAAGGACTCC	NM_004411	NP_004402	95657586	O14576	DC1I1_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.0957)		11	1397	+	T	T	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		Nonsense_Mutation	374			WD 2.			
DYNC1I1	1780	broad.mit.edu	GRCh37	7	95499217	95499217	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01	TCGA-06-0185-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324972.6:c.448G>A	p.Val150Met	p.V150M	ENST00000324972	NM_004411.4	150	Gtg/Atg	0		A:0	1	A:0.0029		A	V/M	uc003uoc.3	protein_coding	YES	CCDS5644.1			448/1938									ovary(3)|kidney(1)	4	c.(448-450)GTG>ATG			Pfam_domain:PF11540,hmmpanther:PTHR12442,hmmpanther:PTHR12442:SF34	dynein, cytoplasmic 1, intermediate chain 1		A:0		ENSP00000320130	A:0	17-Jun	4.12E-05		0.000173			4.50E-05			rs201114371,COSM2150542	17-Jun	.		ENST00000324972	Transcript		A:0.0004	vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	ENSG00000158560	g.chr7:95499217G>A	2963			MODERATE		-1.15	neutral	getma.org/?cm=msa&ty=f&p=DC1I1_HUMAN&rb=142&re=174&var=V150M	getma.org/pdb.php?prot=DC1I1_HUMAN&from=142&to=174&var=V150M	getma.org/?cm=var&var=hg19,7,95499217,G,A&fts=all	V150M	--	--	1																																		DYNC1I1_uc003uod.3_Missense_Mutation_p.V133M|DYNC1I1_uc003uob.2_Missense_Mutation_p.V113M|DYNC1I1_uc003uoe.3_Missense_Mutation_p.V130M|DYNC1I1_uc010lfl.2_Missense_Mutation_p.V139M	0,1	1		benign(0.105)	p.V150M	NM_004411	NP_004402	A:0	tolerated(0.81)	0,1	DC1I1_HUMAN	DYNC1I1	HGNC	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		Q75MI9_HUMAN,Q75LS9_HUMAN,A4D1I7_HUMAN		6	725	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		UPI0000129A01	150					SNV	DYNC1I1,missense_variant,p.Val150Met,ENST00000324972,NM_004411.4;DYNC1I1,missense_variant,p.Val133Met,ENST00000447467,NM_001135556.1;DYNC1I1,missense_variant,p.Val130Met,ENST00000437599,NM_001278421.1;DYNC1I1,missense_variant,p.Val113Met,ENST00000359388,NM_001135557.1;DYNC1I1,missense_variant,p.Val133Met,ENST00000457059,;DYNC1I1,missense_variant,p.Val113Met,ENST00000537881,NM_001278422.1;DYNC1I1,non_coding_transcript_exon_variant,,ENST00000519371,;	uc003uoc.3	c.448G>A	641/2950	2	2			c.448G>A						7	SNP	c.(448-450)GTG>ATG	24	24			ovary(3)|kidney(1)	4	Broad	dynein, cytoplasmic 1, intermediate chain 1			95499217		0.453	ENSG00000158560	4757	g.chr7:95499217G>A	vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity							273.448655	KEEP	47	74	-1	122	125	47	74	-1	282.751018	122	125	0.321101	1	0	0	0	0	1	0	0	0	--	--		0	A			DYNC1I1_uc003uod.3_Missense_Mutation_p.V133M|DYNC1I1_uc003uob.2_Missense_Mutation_p.V113M|DYNC1I1_uc003uoe.3_Missense_Mutation_p.V130M|DYNC1I1_uc010lfl.2_Missense_Mutation_p.V139M	40	GBM-06-0185-TP	p.V150M	G	TAAACTGGGCGTGTCAAAGGT	NM_004411	NP_004402	95499217	O14576	DC1I1_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.0957)		6	725	+	A	A	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		Missense_Mutation	150						
DYNC1I1	0	broad.mit.edu	GRCh37	7	95442583	95442583	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-1747-01	TCGA-28-1747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324972.6:c.299C>T	p.Ser100Leu	p.S100L	ENST00000324972	NM_004411.4	100	tCg/tTg	0		T:0.0008	1	T:0		T	S/L	uc003uoc.3	protein_coding	YES	CCDS5644.1			299/1938									ovary(3)|kidney(1)	4	c.(298-300)TCG>TTG			hmmpanther:PTHR12442,hmmpanther:PTHR12442:SF34,Low_complexity_(Seg):seg	dynein, cytoplasmic 1, intermediate chain 1		T:0		ENSP00000320130	T:0	17-Apr	1.65E-05	9.63E-05				1.50E-05			rs532833915,COSM3412516	17-Apr	.		ENST00000324972	Transcript		T:0.0002	vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	ENSG00000158560	g.chr7:95442583C>T	2963			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=DC1I1_HUMAN&rb=1&re=141&var=S100L	NA	getma.org/?cm=var&var=hg19,7,95442583,C,T&fts=all	S100L	--	--	1																																		DYNC1I1_uc003uod.3_Missense_Mutation_p.S83L|DYNC1I1_uc003uob.2_Missense_Mutation_p.S83L|DYNC1I1_uc003uoe.3_Missense_Mutation_p.S100L|DYNC1I1_uc010lfl.2_Missense_Mutation_p.S89L	0,1	1		benign(0.094)	p.S100L	NM_004411	NP_004402	T:0	tolerated(0.69)	0,1	DC1I1_HUMAN	DYNC1I1	HGNC	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		Q75MI9_HUMAN,Q75LS9_HUMAN,A4D1I7_HUMAN		4	576	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		UPI0000129A01	100			Interaction with DCTN1 (By similarity).		SNV	DYNC1I1,missense_variant,p.Ser100Leu,ENST00000324972,NM_004411.4;DYNC1I1,missense_variant,p.Ser83Leu,ENST00000447467,NM_001135556.1;DYNC1I1,missense_variant,p.Ser100Leu,ENST00000437599,NM_001278421.1;DYNC1I1,missense_variant,p.Ser83Leu,ENST00000359388,NM_001135557.1;DYNC1I1,missense_variant,p.Ser83Leu,ENST00000457059,;DYNC1I1,missense_variant,p.Ser83Leu,ENST00000537881,NM_001278422.1;DYNC1I1,missense_variant,p.Ser83Leu,ENST00000413338,;DYNC1I1,missense_variant,p.Ser83Leu,ENST00000524053,;DYNC1I1,missense_variant,p.Ser83Leu,ENST00000518089,;	uc003uoc.3	c.299C>T	492/2950	2	2			c.299C>T						7	SNP	c.(298-300)TCG>TTG	33	33			ovary(3)|kidney(1)	4	Broad	dynein, cytoplasmic 1, intermediate chain 1			95442583		0.468	ENSG00000158560	4757	g.chr7:95442583C>T	vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity							-42.424652	KEEP	7	2	-1	140	123	7	2	-1	16.555824	140	123	0.035714	1	0	0	0	0	1	0	0	0	--	--		0	T			DYNC1I1_uc003uod.3_Missense_Mutation_p.S83L|DYNC1I1_uc003uob.2_Missense_Mutation_p.S83L|DYNC1I1_uc003uoe.3_Missense_Mutation_p.S100L|DYNC1I1_uc010lfl.2_Missense_Mutation_p.S89L	206	GBM-28-1747-TP	p.S100L	C	TCTCCCTCCTCGAAATCAGTG	NM_004411	NP_004402	95442583	O14576	DC1I1_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.0957)		4	576	+	T	T	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		Missense_Mutation	100			Interaction with DCTN1 (By similarity).			
DYNC2H1	0	broad.mit.edu	GRCh37	11	103006524	103006524	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-4068-01	TCGA-19-4068-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375735.2:c.2421C>T	p.Ile807=	p.I807=	ENST00000375735	NM_001080463.1	807	atC/atT	0			1			T	I	uc001pho.2	protein_coding		CCDS53701.1			2421/12924										0	c.(2419-2421)ATC>ATT			hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34	dynein, cytoplasmic 2, heavy chain 1				ENSP00000364887		17/89	8.28E-06					1.54E-05			rs763470063	17/89	.		ENST00000375735	Transcript	1		cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	ENSG00000187240	g.chr11:103006524C>T	2962			LOW								--	--	1																																		DYNC2H1_uc001phn.1_Silent_p.I807I|DYNC2H1_uc009yxe.1_Intron					p.I807I	NM_001080463	NP_001073932				DYHC2_HUMAN	DYNC2H1	HGNC	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)			17	2565	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	UPI0000418CA2	807			Stem (By similarity).		SNV	DYNC2H1,synonymous_variant,p.=,ENST00000375735,NM_001080463.1,NM_001377.2;DYNC2H1,synonymous_variant,p.=,ENST00000398093,;DYNC2H1,intron_variant,,ENST00000334267,;	uc001pho.2	c.2421C>T	2565/13678	1	1			c.2421C>T						11	SNP	c.(2419-2421)ATC>ATT	5	5				0	Broad	dynein, cytoplasmic 2, heavy chain 1			103006524		0.343	ENSG00000187240	4761	g.chr11:103006524C>T	cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity							35.758769	KEEP	4	10	-1	17	20	4	10	-1	37.116813	17	20	0.309524	1	0	0	0	0	0	0	1	0	--	--		0	T			DYNC2H1_uc001phn.1_Silent_p.I807I|DYNC2H1_uc009yxe.1_Intron	168	GBM-19-4068-TP	p.I807I	C	AGAGATTCATCGGCATTCCAA	NM_001080463	NP_001073932	103006524	Q8NCM8	DYHC2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	17	2565	+	T	T		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	Silent	807			Stem (By similarity).			
DYNC2H1	79659		GRCh37	11	102988581	102988581	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000398093.3:c.988C>T	p.Arg330Cys	p.R330C	ENST00000398093		330	Cgc/Tgc	0																																																																																																																																																																																																																																												
DYNLRB1	0	broad.mit.edu	GRCh37	20	33114101	33114101	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-12-5299-01	TCGA-12-5299-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357156.2:c.32T>C	p.Leu11Pro	p.L11P	ENST00000357156	NM_014183.2	11	cTg/cCg	0			1			C	L/P	uc002xal.2	protein_coding	YES	CCDS13235.1			32/291										0	c.(31-33)CTG>CCG			Gene3D:3.30.450.30,Pfam_domain:PF03259,PIRSF_domain:PIRSF009998,hmmpanther:PTHR10779,hmmpanther:PTHR10779:SF2,SMART_domains:SM00960,Superfamily_domains:SSF103196	Roadblock-1				ENSP00000349679		4-Feb									COSM3405032,COSM3405033	4-Feb	.		ENST00000357156	Transcript			microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity	ENSG00000125971	g.chr20:33114101T>C	15468			MODERATE								--	--	1																																		DYNLRB1_uc010zuk.1_Missense_Mutation_p.L11P|DYNLRB1_uc002xam.2_RNA|DYNLRB1_uc002xan.2_RNA|DYNLRB1_uc002xao.2_RNA	1,1	1		benign(0.156)	p.L11P	NM_014183	NP_054902		deleterious(0.02)	1,1	DLRB1_HUMAN	DYNLRB1	HGNC	Q9NP97	DLRB1_HUMAN					2	92	+			UPI0000040BFB	11					SNV	DYNLRB1,missense_variant,p.Leu11Pro,ENST00000300469,;DYNLRB1,missense_variant,p.Leu11Pro,ENST00000417166,;DYNLRB1,missense_variant,p.Leu63Pro,ENST00000374846,;DYNLRB1,missense_variant,p.Leu11Pro,ENST00000357156,NM_014183.2,NM_001281728.1,NM_001281727.1,NM_177953.2;Y_RNA,downstream_gene_variant,,ENST00000383855,;DYNLRB1,non_coding_transcript_exon_variant,,ENST00000480759,;	uc002xal.2	c.32T>C	82/675	3	3			c.32T>C						20	SNP	c.(31-33)CTG>CCG	16	16				0	Broad	Roadblock-1			33114101		0.587	ENSG00000125971	4765	g.chr20:33114101T>C	microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity							-20.772303	KEEP	3	0	-1	71	55	3	0	-1	6.358837	71	55	0.027273	1	0	0	0	0	1	0	0	0	--	--		0	C			DYNLRB1_uc010zuk.1_Missense_Mutation_p.L11P|DYNLRB1_uc002xam.2_RNA|DYNLRB1_uc002xan.2_RNA|DYNLRB1_uc002xao.2_RNA	130	GBM-12-5299-TP	p.L11P	T	CTGAAGCGACTGCAGAGCCAG	NM_014183	NP_054902	33114101	Q9NP97	DLRB1_HUMAN	0			2	92	+	C	C			Missense_Mutation	11						
DYRK4	0	broad.mit.edu	GRCh37	12	4721722	4721722	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01	TCGA-76-4935-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000010132.5:c.1159C>T	p.Leu387Phe	p.L387F	ENST00000010132		387	Ctt/Ttt	0			1			T	L/F	uc001qmx.2	protein_coding		CCDS8530.1			1159/1563									lung(2)|skin(1)	3	c.(1159-1161)CTT>TTT			Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24058:SF22,hmmpanther:PTHR24058,PROSITE_profiles:PS50011	dual-specificity tyrosine-(Y)-phosphorylation				ENSP00000010132		12-Nov									COSM3398737	12-Nov	.		ENST00000010132	Transcript				Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000010219	g.chr12:4721722C>T	3095			MODERATE		0.91	low	getma.org/?cm=msa&ty=f&p=DYRK4_HUMAN&rb=104&re=400&var=L387F	getma.org/pdb.php?prot=DYRK4_HUMAN&from=104&to=400&var=L387F	getma.org/?cm=var&var=hg19,12,4721722,C,T&fts=all	L387F	--	--	1																																		DYRK4_uc009zeh.1_Missense_Mutation_p.L502F|DYRK4_uc001qmy.1_Missense_Mutation_p.L387F|DYRK4_uc001qmz.1_Missense_Mutation_p.L101F|DYRK4_uc001qna.1_Missense_Mutation_p.L24F|DYRK4_uc010ser.1_Missense_Mutation_p.L24F	1			benign(0.078)	p.L387F	NM_003845	NP_003836		tolerated(0.11)	1	DYRK4_HUMAN	DYRK4	HGNC	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		D3JEN3_HUMAN,D3JEN2_HUMAN,B4DQW1_HUMAN		12	1319	+			UPI000006E05C	387			Protein kinase.		SNV	DYRK4,missense_variant,p.Leu387Phe,ENST00000540757,NM_003845.1,NM_001282286.1,NM_001282285.1;DYRK4,missense_variant,p.Leu387Phe,ENST00000010132,;DYRK4,missense_variant,p.Leu387Phe,ENST00000543431,;DYRK4,missense_variant,p.Leu502Phe,ENST00000542744,;DYRK4,missense_variant,p.Leu24Phe,ENST00000545342,;DYRK4,missense_variant,p.Leu49Phe,ENST00000544671,;AKAP3,downstream_gene_variant,,ENST00000545990,NM_001278309.1,NM_006422.3;AKAP3,downstream_gene_variant,,ENST00000228850,;DYRK4,non_coding_transcript_exon_variant,,ENST00000545571,;DYRK4,non_coding_transcript_exon_variant,,ENST00000541024,;DYRK4,non_coding_transcript_exon_variant,,ENST00000544050,;RP11-500M8.7,intron_variant,,ENST00000536588,;DYRK4,downstream_gene_variant,,ENST00000536137,;	uc001qmx.2	c.1159C>T	1301/1816	2	2			c.1159C>T						12	SNP	c.(1159-1161)CTT>TTT	17	17			lung(2)|skin(1)	3	Broad	dual-specificity tyrosine-(Y)-phosphorylation			4721722		0.448	ENSG00000010219	4773	g.chr12:4721722C>T		Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			294			294	-24.935015	KEEP	3	4	-1	102	81	3	4	-1	14.42079	102	81	0.040462	1	0	0	0	0	1	0	0	0	--	--		0	T			DYRK4_uc009zeh.1_Missense_Mutation_p.L502F|DYRK4_uc001qmy.1_Missense_Mutation_p.L387F|DYRK4_uc001qmz.1_Missense_Mutation_p.L101F|DYRK4_uc001qna.1_Missense_Mutation_p.L24F|DYRK4_uc010ser.1_Missense_Mutation_p.L24F	273	GBM-76-4935-TP	p.L387F	C	GGAACCTTCTCTTCGCATGAC	NM_003845	NP_003836	4721722	Q9NR20	DYRK4_HUMAN	0	Colorectal(7;0.103)		12	1319	+	T	T			Missense_Mutation	387			Protein kinase.			
DYRK4	8798		GRCh37	12	4708241	4708241	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000540757.2:c.608G>A	p.Ser203Asn	p.S203N	ENST00000540757	NM_003845.1	203	aGt/aAt	0																																																																																																																																																																																																																																												
DYSF	8291	broad.mit.edu	GRCh37	2	71871111	71871111	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0155-01	TCGA-06-0155-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000410020.3:c.4544A>C	p.Asp1515Ala	p.D1515A	ENST00000410020	NM_001130987.1	1515	gAt/gCt	0			1			C	D/A	uc002sie.2	protein_coding		CCDS1918.1			4427/6243									ovary(3)|breast(2)|pancreas(1)|skin(1)	7	c.(4426-4428)GAT>GCT			hmmpanther:PTHR12546:SF35,hmmpanther:PTHR12546	dysferlin isoform 8				ENSP00000258104		41/55									COSM2149960,COSM2149959	41/55	.		ENST00000258104	Transcript	1			cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	ENSG00000135636	g.chr2:71871111A>C	3097			MODERATE		3.015	medium	getma.org/?cm=msa&ty=f&p=DYSF_HUMAN&rb=1422&re=1579&var=D1476A	NA	getma.org/?cm=var&var=hg19,2,71871111,A,C&fts=all	D1476A	--	--	1																																		DYSF_uc010feg.2_Missense_Mutation_p.D1507A|DYSF_uc010feh.2_Missense_Mutation_p.D1483A|DYSF_uc002sig.3_Missense_Mutation_p.D1462A|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.D1497A|DYSF_uc010fef.2_Missense_Mutation_p.D1514A|DYSF_uc010fei.2_Missense_Mutation_p.D1493A|DYSF_uc010fek.2_Missense_Mutation_p.D1494A|DYSF_uc010fej.2_Missense_Mutation_p.D1484A|DYSF_uc010fel.2_Missense_Mutation_p.D1463A|DYSF_uc010feo.2_Missense_Mutation_p.D1508A|DYSF_uc010fem.2_Missense_Mutation_p.D1498A|DYSF_uc010fen.2_Missense_Mutation_p.D1515A|DYSF_uc002sif.2_Missense_Mutation_p.D1477A|DYSF_uc010yqy.1_Missense_Mutation_p.D357A|DYSF_uc010yqz.1_Missense_Mutation_p.D237A	1,1			probably_damaging(0.999)	p.D1476A	NM_003494	NP_003485		deleterious(0)	1,1	DYSF_HUMAN	DYSF	HGNC	O75923	DYSF_HUMAN			Q7Z6P1_HUMAN,B7Z2R1_HUMAN		41	4803	+			UPI0000129A56	1476			Cytoplasmic (Potential).		SNV	DYSF,missense_variant,p.Asp1476Ala,ENST00000258104,NM_003494.3,NM_001130976.1;DYSF,missense_variant,p.Asp1514Ala,ENST00000409582,NM_001130981.1;DYSF,missense_variant,p.Asp1507Ala,ENST00000413539,NM_001130979.1;DYSF,missense_variant,p.Asp1497Ala,ENST00000429174,NM_001130978.1,NM_001130977.1;DYSF,missense_variant,p.Asp1493Ala,ENST00000409762,NM_001130980.1;DYSF,missense_variant,p.Asp1515Ala,ENST00000410020,NM_001130987.1;DYSF,missense_variant,p.Asp1508Ala,ENST00000409651,NM_001130982.1;DYSF,missense_variant,p.Asp1498Ala,ENST00000409366,NM_001130983.1;DYSF,missense_variant,p.Asp1494Ala,ENST00000410041,NM_001130985.1;DYSF,missense_variant,p.Asp1484Ala,ENST00000409744,NM_001130984.1;DYSF,missense_variant,p.Asp1477Ala,ENST00000394120,NM_001130986.1,NM_001130455.1;DYSF,non_coding_transcript_exon_variant,,ENST00000479049,;DYSF,non_coding_transcript_exon_variant,,ENST00000468173,;	uc002sie.2	c.4427A>C	4704/6796	3	3			c.4427A>C						2	SNP	c.(4426-4428)GAT>GCT	3	3			ovary(3)|breast(2)|pancreas(1)|skin(1)	7	Broad	dysferlin isoform 8			71871111		0.502	ENSG00000135636	4774	g.chr2:71871111A>C		cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding							39.792721	KEEP	12	1	-1	14	10	12	1	-1	40.439863	14	10	0.352941	1	0	0	0	0	1	0	0	0	--	--		0	C			DYSF_uc010feg.2_Missense_Mutation_p.D1507A|DYSF_uc010feh.2_Missense_Mutation_p.D1483A|DYSF_uc002sig.3_Missense_Mutation_p.D1462A|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.D1497A|DYSF_uc010fef.2_Missense_Mutation_p.D1514A|DYSF_uc010fei.2_Missense_Mutation_p.D1493A|DYSF_uc010fek.2_Missense_Mutation_p.D1494A|DYSF_uc010fej.2_Missense_Mutation_p.D1484A|DYSF_uc010fel.2_Missense_Mutation_p.D1463A|DYSF_uc010feo.2_Missense_Mutation_p.D1508A|DYSF_uc010fem.2_Missense_Mutation_p.D1498A|DYSF_uc010fen.2_Missense_Mutation_p.D1515A|DYSF_uc002sif.2_Missense_Mutation_p.D1477A|DYSF_uc010yqy.1_Missense_Mutation_p.D357A|DYSF_uc010yqz.1_Missense_Mutation_p.D237A	27	GBM-06-0155-TP	p.D1476A	A	GAGTTCATCGATTGGTGGAGC	NM_003494	NP_003485	71871111	O75923	DYSF_HUMAN	0			41	4803	+	C	C			Missense_Mutation	1476			Cytoplasmic (Potential).			
DYSF	8291	broad.mit.edu	GRCh37	2	71871138	71871138	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0169-01	TCGA-06-0169-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000410020.3:c.4571T>C	p.Ile1524Thr	p.I1524T	ENST00000410020	NM_001130987.1	1524	aTa/aCa	0		C:0	1	C:0		C	I/T	uc002sie.2	protein_coding		CCDS1918.1			4454/6243									ovary(3)|breast(2)|pancreas(1)|skin(1)	7	c.(4453-4455)ATA>ACA			hmmpanther:PTHR12546:SF35,hmmpanther:PTHR12546	dysferlin isoform 8		C:0		ENSP00000258104	C:0	41/55	1.65E-05							0.000155	rs559940171,COSM2150265,COSM2150264	41/55	.		ENST00000258104	Transcript	1	C:0.0002		cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	ENSG00000135636	g.chr2:71871138T>C	3097			MODERATE		-0.43	neutral	getma.org/?cm=msa&ty=f&p=DYSF_HUMAN&rb=1422&re=1579&var=I1485T	NA	getma.org/?cm=var&var=hg19,2,71871138,T,C&fts=all	I1485T	--	--	1																																		DYSF_uc010feg.2_Missense_Mutation_p.I1516T|DYSF_uc010feh.2_Missense_Mutation_p.I1492T|DYSF_uc002sig.3_Missense_Mutation_p.I1471T|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.I1506T|DYSF_uc010fef.2_Missense_Mutation_p.I1523T|DYSF_uc010fei.2_Missense_Mutation_p.I1502T|DYSF_uc010fek.2_Missense_Mutation_p.I1503T|DYSF_uc010fej.2_Missense_Mutation_p.I1493T|DYSF_uc010fel.2_Missense_Mutation_p.I1472T|DYSF_uc010feo.2_Missense_Mutation_p.I1517T|DYSF_uc010fem.2_Missense_Mutation_p.I1507T|DYSF_uc010fen.2_Missense_Mutation_p.I1524T|DYSF_uc002sif.2_Missense_Mutation_p.I1486T|DYSF_uc010yqy.1_Missense_Mutation_p.I366T|DYSF_uc010yqz.1_Missense_Mutation_p.I246T	0,1,1			benign(0.001)	p.I1485T	NM_003494	NP_003485	C:0.001	tolerated(0.73)	0,1,1	DYSF_HUMAN	DYSF	HGNC	O75923	DYSF_HUMAN			Q7Z6P1_HUMAN,B7Z2R1_HUMAN		41	4830	+			UPI0000129A56	1485			Cytoplasmic (Potential).		SNV	DYSF,missense_variant,p.Ile1485Thr,ENST00000258104,NM_003494.3,NM_001130976.1;DYSF,missense_variant,p.Ile1523Thr,ENST00000409582,NM_001130981.1;DYSF,missense_variant,p.Ile1516Thr,ENST00000413539,NM_001130979.1;DYSF,missense_variant,p.Ile1506Thr,ENST00000429174,NM_001130978.1,NM_001130977.1;DYSF,missense_variant,p.Ile1502Thr,ENST00000409762,NM_001130980.1;DYSF,missense_variant,p.Ile1524Thr,ENST00000410020,NM_001130987.1;DYSF,missense_variant,p.Ile1517Thr,ENST00000409651,NM_001130982.1;DYSF,missense_variant,p.Ile1507Thr,ENST00000409366,NM_001130983.1;DYSF,missense_variant,p.Ile1503Thr,ENST00000410041,NM_001130985.1;DYSF,missense_variant,p.Ile1493Thr,ENST00000409744,NM_001130984.1;DYSF,missense_variant,p.Ile1486Thr,ENST00000394120,NM_001130986.1,NM_001130455.1;DYSF,non_coding_transcript_exon_variant,,ENST00000479049,;DYSF,non_coding_transcript_exon_variant,,ENST00000468173,;	uc002sie.2	c.4454T>C	4731/6796	3	3			c.4454T>C						2	SNP	c.(4453-4455)ATA>ACA	5	5			ovary(3)|breast(2)|pancreas(1)|skin(1)	7	Broad	dysferlin isoform 8			71871138		0.502	ENSG00000135636	4774	g.chr2:71871138T>C		cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding							20.61227	KEEP	5	3	-1	13	7	5	3	-1	22.029879	13	7	0.259259	1	0	0	0	0	1	0	0	0	--	--		0	C			DYSF_uc010feg.2_Missense_Mutation_p.I1516T|DYSF_uc010feh.2_Missense_Mutation_p.I1492T|DYSF_uc002sig.3_Missense_Mutation_p.I1471T|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.I1506T|DYSF_uc010fef.2_Missense_Mutation_p.I1523T|DYSF_uc010fei.2_Missense_Mutation_p.I1502T|DYSF_uc010fek.2_Missense_Mutation_p.I1503T|DYSF_uc010fej.2_Missense_Mutation_p.I1493T|DYSF_uc010fel.2_Missense_Mutation_p.I1472T|DYSF_uc010feo.2_Missense_Mutation_p.I1517T|DYSF_uc010fem.2_Missense_Mutation_p.I1507T|DYSF_uc010fen.2_Missense_Mutation_p.I1524T|DYSF_uc002sif.2_Missense_Mutation_p.I1486T|DYSF_uc010yqy.1_Missense_Mutation_p.I366T|DYSF_uc010yqz.1_Missense_Mutation_p.I246T	34	GBM-06-0169-TP	p.I1485T	T	TTTGCCTCCATAGGGGAGAGG	NM_003494	NP_003485	71871138	O75923	DYSF_HUMAN	0			41	4830	+	C	C			Missense_Mutation	1485			Cytoplasmic (Potential).			
DYSF	0	broad.mit.edu	GRCh37	2	71801344	71801344	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01	TCGA-28-2514-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258104.3:c.3191C>T	p.Ala1064Val	p.A1064V	ENST00000258104	NM_003494.3	1064	gCg/gTg	0		T:0.0008	1	T:0		T	A/V	uc002sie.2	protein_coding		CCDS1918.1			3191/6243									ovary(3)|breast(2)|pancreas(1)|skin(1)	7	c.(3190-3192)GCG>GTG			hmmpanther:PTHR12546:SF35,hmmpanther:PTHR12546	dysferlin isoform 8		T:0.001		ENSP00000258104	T:0	30/55	4.12E-05	0.000102		0.000349		1.53E-05			rs200637035,COSM3407964,COSM3407963	30/55	.		ENST00000258104	Transcript	1	T:0.0004		cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	ENSG00000135636	g.chr2:71801344C>T	3097			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=DYSF_HUMAN&rb=1045&re=1153&var=A1064V	NA	getma.org/?cm=var&var=hg19,2,71801344,C,T&fts=all	A1064V	--	--	1																																		DYSF_uc010feg.2_Missense_Mutation_p.A1095V|DYSF_uc010feh.2_Missense_Mutation_p.A1050V|DYSF_uc002sig.3_Missense_Mutation_p.A1050V|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.A1064V|DYSF_uc010fef.2_Missense_Mutation_p.A1081V|DYSF_uc010fei.2_Missense_Mutation_p.A1081V|DYSF_uc010fek.2_Missense_Mutation_p.A1082V|DYSF_uc010fej.2_Missense_Mutation_p.A1051V|DYSF_uc010fel.2_Missense_Mutation_p.A1051V|DYSF_uc010feo.2_Missense_Mutation_p.A1096V|DYSF_uc010fem.2_Missense_Mutation_p.A1065V|DYSF_uc010fen.2_Missense_Mutation_p.A1082V|DYSF_uc002sif.2_Missense_Mutation_p.A1065V|DYSF_uc010yqy.1_5'Flank	0,1,1			benign(0.029)	p.A1064V	NM_003494	NP_003485	T:0	tolerated(0.26)	0,1,1	DYSF_HUMAN	DYSF	HGNC	O75923	DYSF_HUMAN			Q7Z6P1_HUMAN,B7Z2R1_HUMAN		30	3567	+			UPI0000129A56	1064			Cytoplasmic (Potential).|Arg-rich.		SNV	DYSF,missense_variant,p.Ala1064Val,ENST00000258104,NM_003494.3,NM_001130976.1;DYSF,missense_variant,p.Ala1081Val,ENST00000409582,NM_001130981.1;DYSF,missense_variant,p.Ala1095Val,ENST00000413539,NM_001130979.1;DYSF,missense_variant,p.Ala1064Val,ENST00000429174,NM_001130978.1,NM_001130977.1;DYSF,missense_variant,p.Ala1081Val,ENST00000409762,NM_001130980.1;DYSF,missense_variant,p.Ala1082Val,ENST00000410020,NM_001130987.1;DYSF,missense_variant,p.Ala1096Val,ENST00000409651,NM_001130982.1;DYSF,missense_variant,p.Ala1065Val,ENST00000409366,NM_001130983.1;DYSF,missense_variant,p.Ala1082Val,ENST00000410041,NM_001130985.1;DYSF,missense_variant,p.Ala1051Val,ENST00000409744,NM_001130984.1;DYSF,missense_variant,p.Ala1065Val,ENST00000394120,NM_001130986.1,NM_001130455.1;DYSF,upstream_gene_variant,,ENST00000479049,;DYSF,upstream_gene_variant,,ENST00000475076,;DYSF,downstream_gene_variant,,ENST00000461565,;	uc002sie.2	c.3191C>T	3468/6796	1	1			c.3191C>T						2	SNP	c.(3190-3192)GCG>GTG	1	1			ovary(3)|breast(2)|pancreas(1)|skin(1)	7	Broad	dysferlin isoform 8			71801344		0.662	ENSG00000135636	4774	g.chr2:71801344C>T		cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding							129.857072	KEEP	19	32	-1	32	46	19	32	-1	130.878915	32	46	0.39823	1	0	0	0	0	1	0	0	0	--	--		0	T			DYSF_uc010feg.2_Missense_Mutation_p.A1095V|DYSF_uc010feh.2_Missense_Mutation_p.A1050V|DYSF_uc002sig.3_Missense_Mutation_p.A1050V|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.A1064V|DYSF_uc010fef.2_Missense_Mutation_p.A1081V|DYSF_uc010fei.2_Missense_Mutation_p.A1081V|DYSF_uc010fek.2_Missense_Mutation_p.A1082V|DYSF_uc010fej.2_Missense_Mutation_p.A1051V|DYSF_uc010fel.2_Missense_Mutation_p.A1051V|DYSF_uc010feo.2_Missense_Mutation_p.A1096V|DYSF_uc010fem.2_Missense_Mutation_p.A1065V|DYSF_uc010fen.2_Missense_Mutation_p.A1082V|DYSF_uc002sif.2_Missense_Mutation_p.A1065V|DYSF_uc010yqy.1_5'Flank	214	GBM-28-2514-TP	p.A1064V	C	CAGGCGGAGGCGGAGGGCGAG	NM_003494	NP_003485	71801344	O75923	DYSF_HUMAN	0			30	3567	+	T	T			Missense_Mutation	1064			Cytoplasmic (Potential).|Arg-rich.			
DYTN	0	broad.mit.edu	GRCh37	2	207530695	207530695	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-27-2524-01	TCGA-27-2524-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000452335.2:c.1039C>T	p.Gln347Ter	p.Q347*	ENST00000452335	NM_001093730.1	347	Cag/Tag	0		A:0	1	A:0		A	Q/*	uc002vbr.1	protein_coding	YES	CCDS46502.1			1039/1737									ovary(1)|central_nervous_system(1)	2	c.(1039-1041)CAG>TAG			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF237	dystrotelin		A:0.003		ENSP00000396593	A:0	12-Oct	7.45E-05			0.00104					rs180718219,COSM3407512,COSM3407511	12-Oct	common_variant		ENST00000452335	Transcript		A:0.0006		plasma membrane	zinc ion binding	ENSG00000232125	g.chr2:207530695G>A	23279			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,207530695,G,A&fts=all	Q347*	--	--	1																																			0,1,1	1			p.Q347*	NM_001093730	NP_001087199	A:0		0,1,1	DYTN_HUMAN	DYTN	HGNC	A2CJ06	DYTN_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)			10	1156	-			UPI0000EE0AB9	347			Potential.		SNV	DYTN,stop_gained,p.Gln347Ter,ENST00000452335,NM_001093730.1;	uc002vbr.1	c.1039C>T	1156/2051	5	2			c.1039C>T						2	SNP	c.(1039-1041)CAG>TAG	45	45			ovary(1)|central_nervous_system(1)	2	Broad	dystrotelin			207530695		0.408	ENSG00000232125	4776	g.chr2:207530695G>A		plasma membrane	zinc ion binding							121.402936	KEEP	22	28	-1	69	59	22	28	-1	127.820308	69	59	0.286624	1	0	0	0	0	0	1	0	0	--	--		0	A				202	GBM-27-2524-TP	p.Q347*	G	CTTTCTTCCTGGGAGGTGTAT	NM_001093730	NP_001087199	207530695	A2CJ06	DYTN_HUMAN	0		LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)	10	1156	-	A	A			Nonsense_Mutation	347			Potential.			
DYX1C1	0	broad.mit.edu	GRCh37	15	55790519	55790520	+	frameshift_variant	Frame_Shift_Del	DEL	AA	AA	-			TCGA-06-2561-01	TCGA-06-2561-01	AA	AA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321149.3:c.8_9del	p.Leu3ProfsTer3	p.L3Pfs*3	ENST00000321149	NM_130810.3	3	cTT/c	0			1			-	L/X	uc002adc.2	protein_coding	YES	CCDS10154.1			8-9/1263									skin(1)	1	c.(7-9)CTTfs			PROSITE_profiles:PS51203	dyslexia susceptibility 1 candidate 1 isoform a				ENSP00000323275		10-Feb									COSM2152733,COSM2152734	10-Feb	.		ENST00000321149	Transcript	1		neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding	ENSG00000256061	g.chr15:55790519_55790520delAA	21493			HIGH								--	--	1																																		CCPG1_uc002acy.2_5'UTR|DYX1C1_uc010ugh.1_RNA|DYX1C1_uc010ugi.1_RNA|DYX1C1_uc002adb.2_Frame_Shift_Del_p.L3fs|DYX1C1_uc002add.2_Frame_Shift_Del_p.L3fs	1,1	1			p.L3fs	NM_130810	NP_570722			1,1	DYXC1_HUMAN	DYX1C1	HGNC	Q8WXU2	DYXC1_HUMAN		all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)			2	376_377	-			UPI000013E5B8	3			CS.		deletion	DYX1C1,frameshift_variant,p.Leu3ProfsTer3,ENST00000321149,NM_130810.3;DYX1C1,frameshift_variant,p.Leu3ProfsTer3,ENST00000348518,NM_001033559.2;DYX1C1,frameshift_variant,p.Leu3ProfsTer3,ENST00000380679,NM_001033560.1;DYX1C1,frameshift_variant,p.Leu3ProfsTer3,ENST00000457155,;DYX1C1,frameshift_variant,p.Leu3ProfsTer3,ENST00000448430,;DYX1C1-CCPG1,non_coding_transcript_exon_variant,,ENST00000565113,;DYX1C1-CCPG1,non_coding_transcript_exon_variant,,ENST00000568310,;DYX1C1,frameshift_variant,p.Leu3ProfsTer3,ENST00000524160,;DYX1C1,frameshift_variant,p.Leu3ProfsTer3,ENST00000522437,;DYX1C1,non_coding_transcript_exon_variant,,ENST00000519017,;	uc002adc.2	c.8_9delTT	376-377/1993	5	5			c.8_9delTT						15	DEL	c.(7-9)CTTfs	45	45			skin(1)	1	Broad	dyslexia susceptibility 1 candidate 1 isoform a			55790520		0.599	ENSG00000256061	4777	g.chr15:55790519_55790520delAA	neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding																				0.32	1	1	0	1	0	0	0	0	0	--	--		0	-			CCPG1_uc002acy.2_5'UTR|DYX1C1_uc010ugh.1_RNA|DYX1C1_uc010ugi.1_RNA|DYX1C1_uc002adb.2_Frame_Shift_Del_p.L3fs|DYX1C1_uc002add.2_Frame_Shift_Del_p.L3fs	84	GBM-06-2561-TP	p.L3fs	AA	CGCTAACCTGAAGAGGCATTCC	NM_130810	NP_570722	55790519	Q8WXU2	DYXC1_HUMAN	0		all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)	2	376_377	-	-	-			Frame_Shift_Del	3			CS.			
DZIP1	0	broad.mit.edu	GRCh37	13	96234520	96234520	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01	TCGA-76-4935-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000347108.3:c.2572G>A	p.Val858Met	p.V858M	ENST00000347108		858	Gtg/Atg	0			1			T	V/M	uc001vmk.2	protein_coding	YES	CCDS9478.1			2572/2604									ovary(2)	2	c.(2572-2574)GTG>ATG			hmmpanther:PTHR21502,hmmpanther:PTHR21502:SF5,Low_complexity_(Seg):seg	DAZ interacting protein 1 isoform 2				ENSP00000257312		21/21									COSM3399470,COSM3399469	21/21	.		ENST00000347108	Transcript			germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	ENSG00000134874	g.chr13:96234520C>T	20908			MODERATE		1.56	low	getma.org/?cm=msa&ty=f&p=DZIP1_HUMAN&rb=779&re=867&var=V858M	NA	getma.org/?cm=var&var=hg19,13,96234520,C,T&fts=all	V858M	--	--	1																																		DZIP1_uc010afn.2_5'Flank|DZIP1_uc001vmi.2_Missense_Mutation_p.V106M|DZIP1_uc001vmj.2_Missense_Mutation_p.V334M|DZIP1_uc001vml.2_Missense_Mutation_p.V839M|DZIP1_uc001vmm.2_RNA	1,1	1		benign(0.248)	p.V858M	NM_198968	NP_945319		tolerated(0.05)	1,1	DZIP1_HUMAN	DZIP1	HGNC	Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		B3KSP1_HUMAN		23	3424	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		UPI000000D9B8	858					SNV	DZIP1,missense_variant,p.Val858Met,ENST00000347108,;DZIP1,missense_variant,p.Val839Met,ENST00000361156,;DZIP1,missense_variant,p.Val839Met,ENST00000361396,NM_014934.4;DZIP1,missense_variant,p.Val858Met,ENST00000376829,NM_198968.3;CLDN10,downstream_gene_variant,,ENST00000376873,NM_182848.3,NM_001160100.1;CLDN10,downstream_gene_variant,,ENST00000299339,NM_006984.4;DZIP1,non_coding_transcript_exon_variant,,ENST00000485031,;DZIP1,downstream_gene_variant,,ENST00000479518,;	uc001vmk.2	c.2572G>A	3005/7068	2	2			c.2572G>A						13	SNP	c.(2572-2574)GTG>ATG	24	24			ovary(2)	2	Broad	DAZ interacting protein 1 isoform 2			96234520		0.408	ENSG00000134874	4778	g.chr13:96234520C>T	germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding							-16.095542	KEEP	4	1	-1	55	60	4	1	-1	7.5696	55	60	0.038835	1	0	0	0	0	1	0	0	0	--	--		0	T			DZIP1_uc010afn.2_5'Flank|DZIP1_uc001vmi.2_Missense_Mutation_p.V106M|DZIP1_uc001vmj.2_Missense_Mutation_p.V334M|DZIP1_uc001vml.2_Missense_Mutation_p.V839M|DZIP1_uc001vmm.2_RNA	273	GBM-76-4935-TP	p.V858M	C	CAATCAGTCACAGTTACTAAG	NM_198968	NP_945319	96234520	Q86YF9	DZIP1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(86;0.141)		23	3424	-	T	T	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		Missense_Mutation	858						
DZIP1L	199221	broad.mit.edu	GRCh37	3	137796433	137796433	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-0003-01	TCGA-02-0003-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327532.2:c.1330G>A	p.Ala444Thr	p.A444T	ENST00000327532	NM_173543.2	444	Gct/Act	0			1			T	A/T	uc003erq.2	protein_coding	YES	CCDS3096.1			1330/2304									ovary(1)|pancreas(1)	2	c.(1330-1332)GCT>ACT			hmmpanther:PTHR21502:SF8,hmmpanther:PTHR21502	DAZ interacting protein 1-like				ENSP00000332148		16-Nov									COSM2148886,COSM2148887	16-Nov	.		ENST00000327532	Transcript				intracellular	zinc ion binding	ENSG00000158163	g.chr3:137796433C>T	26551			MODERATE		1.955	medium	getma.org/?cm=msa&ty=f&p=DZI1L_HUMAN&rb=345&re=544&var=A444T	NA	getma.org/?cm=var&var=hg19,3,137796433,C,T&fts=all	A444T	--	--	1																																		DZIP1L_uc003err.1_Missense_Mutation_p.A444T	1,1	1		possibly_damaging(0.637)	p.A444T	NM_173543	NP_775814		tolerated(0.15)	1,1	DZI1L_HUMAN	DZIP1L	HGNC	Q8IYY4	DZI1L_HUMAN			C9JRW2_HUMAN,C9JD19_HUMAN		11	1693	-			UPI0000161A66	444					SNV	DZIP1L,missense_variant,p.Ala444Thr,ENST00000327532,NM_173543.2;DZIP1L,missense_variant,p.Ala444Thr,ENST00000469243,NM_001170538.1;DZIP1L,non_coding_transcript_exon_variant,,ENST00000488595,;DZIP1L,downstream_gene_variant,,ENST00000466301,;	uc003erq.2	c.1330G>A	1693/3493	2	2			c.1330G>A						3	SNP	c.(1330-1332)GCT>ACT	34	34			ovary(1)|pancreas(1)	2	Broad	DAZ interacting protein 1-like			137796433		0.537	ENSG00000158163	4779	g.chr3:137796433C>T		intracellular	zinc ion binding							355.874203	KEEP	47	76	-1	74	59	47	76	-1	355.932834	74	59	0.483333	1	0	0	0	0	1	0	0	0	--	--		0	T			DZIP1L_uc003err.1_Missense_Mutation_p.A444T	1	GBM-02-0003-TP	p.A444T	C	CGCCTCAGAGCTGCCAGCACC	NM_173543	NP_775814	137796433	Q8IYY4	DZI1L_HUMAN	0			11	1693	-	T	T			Missense_Mutation	444						
DZIP1L	0	broad.mit.edu	GRCh37	3	137799416	137799416	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-26-1442-01	TCGA-26-1442-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327532.2:c.1281A>G	p.Pro427=	p.P427=	ENST00000327532	NM_173543.2	427	ccA/ccG	0	C:0	C:0	1	C:0		C	P	uc003erq.2	protein_coding	YES	CCDS3096.1			1281/2304									ovary(1)|pancreas(1)	2	c.(1279-1281)CCA>CCG			Low_complexity_(Seg):seg,hmmpanther:PTHR21502:SF8,hmmpanther:PTHR21502	DAZ interacting protein 1-like		C:0	C:0.0005	ENSP00000332148	C:0.001	16-Oct	0.000148		8.64E-05			0.000255			rs369312454,COSM2156898,COSM2156899	16-Oct	.		ENST00000327532	Transcript		C:0.0002		intracellular	zinc ion binding	ENSG00000158163	g.chr3:137799416T>C	26551			LOW								--	--	1																																		DZIP1L_uc003err.1_Silent_p.P427P	0,1,1	1			p.P427P	NM_173543	NP_775814	C:0		0,1,1	DZI1L_HUMAN	DZIP1L	HGNC	Q8IYY4	DZI1L_HUMAN			C9JRW2_HUMAN,C9JD19_HUMAN		10	1644	-			UPI0000161A66	427					SNV	DZIP1L,synonymous_variant,p.=,ENST00000327532,NM_173543.2;DZIP1L,synonymous_variant,p.=,ENST00000469243,NM_001170538.1;DZIP1L,non_coding_transcript_exon_variant,,ENST00000488595,;DZIP1L,non_coding_transcript_exon_variant,,ENST00000466301,;	uc003erq.2	c.1281A>G	1644/3493	3	3			c.1281A>G						3	SNP	c.(1279-1281)CCA>CCG	52	52			ovary(1)|pancreas(1)	2	Broad	DAZ interacting protein 1-like			137799416		0.522	ENSG00000158163	4779	g.chr3:137799416T>C		intracellular	zinc ion binding							106.685938	KEEP	15	29	-1	17	25	15	29	-1	106.733967	17	25	0.471429	1	0	0	0	0	0	0	1	0	--	--		0	C			DZIP1L_uc003err.1_Silent_p.P427P	180	GBM-26-1442-TP	p.P427P	T	CACCTTCCTCTGGAGAGTCCT	NM_173543	NP_775814	137799416	Q8IYY4	DZI1L_HUMAN	0			10	1644	-	C	C			Silent	427						
DZIP3	9666	broad.mit.edu	GRCh37	3	108353719	108353719	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0216-01	TCGA-06-0216-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361582.3:c.818G>T	p.Gly273Val	p.G273V	ENST00000361582	NM_014648.3	273	gGa/gTa	0			1			T	G/V	uc003dxd.2	protein_coding	YES	CCDS2952.1			818/3627									ovary(1)|central_nervous_system(1)	2	c.(817-819)GGA>GTA			hmmpanther:PTHR12477,hmmpanther:PTHR12477:SF15	DAZ interacting protein 3, zinc finger				ENSP00000355028		Oct-33									COSM2150885	Oct-33	.		ENST00000361582	Transcript			protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000198919	g.chr3:108353719G>T	30938			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=DZIP3_HUMAN&rb=179&re=339&var=G273V	NA	getma.org/?cm=var&var=hg19,3,108353719,G,T&fts=all	G273V	--	--	1																																		DZIP3_uc003dxf.1_Missense_Mutation_p.G273V|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Missense_Mutation_p.G273V|DZIP3_uc003dxg.1_5'UTR	1	1		possibly_damaging(0.829)	p.G273V	NM_014648	NP_055463		deleterious(0)	1	DZIP3_HUMAN	DZIP3	HGNC	Q86Y13	DZIP3_HUMAN			Q5MY58_HUMAN,D3DN61_HUMAN,C9JRX4_HUMAN,C9J9M8_HUMAN,C9J702_HUMAN		10	1240	+			UPI000006E7D4	273					SNV	DZIP3,missense_variant,p.Gly273Val,ENST00000361582,NM_014648.3;DZIP3,missense_variant,p.Gly273Val,ENST00000463306,;DZIP3,missense_variant,p.Gly273Val,ENST00000479138,;DZIP3,missense_variant,p.Gly273Val,ENST00000495008,;	uc003dxd.2	c.818G>T	1048/5350	2	2			c.818G>T						3	SNP	c.(817-819)GGA>GTA	36	36			ovary(1)|central_nervous_system(1)	2	Broad	DAZ interacting protein 3, zinc finger			108353719		0.254	ENSG00000198919	4780	g.chr3:108353719G>T	protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding							46.299419	KEEP	12	4	0.75	10	1	12	4	0.75	46.50072	10	1	0.592593	1	0	0	0	0	1	0	0	0	--	--		0	T			DZIP3_uc003dxf.1_Missense_Mutation_p.G273V|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Missense_Mutation_p.G273V|DZIP3_uc003dxg.1_5'UTR	51	GBM-06-0216-TP	p.G273V	G	TTTTTCCAGGGATTTTTTCAG	NM_014648	NP_055463	108353719	Q86Y13	DZIP3_HUMAN	0			10	1240	+	T	T			Missense_Mutation	273						
E2F3	0	broad.mit.edu	GRCh37	6	20402625	20402625	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-28-5211-01	TCGA-28-5211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000346618.3:c.162G>C	p.Pro54=	p.P54=	ENST00000346618	NM_001949.4	54	ccG/ccC	0			1			C	P	uc003nda.2	protein_coding	YES	CCDS4545.1			162/1398									lung(1)	1	c.(160-162)CCG>CCC			Low_complexity_(Seg):seg,hmmpanther:PTHR12081:SF36,hmmpanther:PTHR12081	E2F transcription factor 3				ENSP00000262904		7-Jan									COSM3410829	7-Jan	.		ENST00000346618	Transcript			G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	ENSG00000112242	g.chr6:20402625G>C	3115			LOW								--	--	1																																		E2F3_uc003ncz.2_Silent_p.P54P	1	1			p.P54P	NM_001949	NP_001940			1	E2F3_HUMAN	E2F3	HGNC	O00716	E2F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)		Q24JQ3_HUMAN		1	489	+	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		UPI0000129AC2	54					SNV	E2F3,synonymous_variant,p.=,ENST00000346618,NM_001949.4;E2F3,upstream_gene_variant,,ENST00000535432,NM_001243076.2;	uc003nda.2	c.162G>C	228/4744	3	3			c.162G>C						6	SNP	c.(160-162)CCG>CCC	7	7			lung(1)	1	Broad	E2F transcription factor 3			20402625		0.597	ENSG00000112242	4783	g.chr6:20402625G>C	G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity							-9.419985	KEEP	2	1	-1	38	38	2	1	-1	6.537711	38	38	0.042254	1	0	0	0	0	0	0	1	0	--	--		0	C			E2F3_uc003ncz.2_Silent_p.P54P	219	GBM-28-5211-TP	p.P54P	G	ccgccgccCCGGGCGCGTACA	NM_001949	NP_001940	20402625	O00716	E2F3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)		1	489	+	C	C	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		Silent	54						
E2F4	0	broad.mit.edu	GRCh37	16	67226947	67226947	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379378.3:c.281C>G	p.Ala94Gly	p.A94G	ENST00000379378	NM_001950.3	94	gCt/gGt	0			1			G	A/G	uc002erz.2	protein_coding	YES	CCDS32464.1			281/1242									central_nervous_system(1)	1	c.(280-282)GCT>GGT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12081,hmmpanther:PTHR12081:SF42	E2F transcription factor 4				ENSP00000368686		10-Mar									COSM3402411	10-Mar	.		ENST00000379378	Transcript			G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	ENSG00000205250	g.chr16:67226947C>G	3118			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=E2F4_HUMAN&rb=84&re=283&var=A94G	NA	getma.org/?cm=var&var=hg19,16,67226947,C,G&fts=all	A94G	--	--	1																																		EXOC3L_uc002erv.1_5'Flank|EXOC3L_uc002erw.1_5'Flank|EXOC3L_uc002ery.1_5'Flank|EXOC3L_uc010vje.1_5'Flank|EXOC3L_uc002erx.1_5'Flank	1	1		benign(0.008)	p.A94G	NM_001950	NP_001941		tolerated(0.27)	1	E2F4_HUMAN	E2F4	HGNC	Q16254	E2F4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)			3	344	+		Ovarian(137;0.0563)	UPI000002EFCB	94			Dimerization (Potential).		SNV	E2F4,missense_variant,p.Ala94Gly,ENST00000379378,NM_001950.3;EXOC3L1,upstream_gene_variant,,ENST00000314586,NM_178516.3;EXOC3L1,upstream_gene_variant,,ENST00000545725,;EXOC3L1,upstream_gene_variant,,ENST00000563889,;EXOC3L1,upstream_gene_variant,,ENST00000564418,;E2F4,upstream_gene_variant,,ENST00000565226,;E2F4,non_coding_transcript_exon_variant,,ENST00000564718,;EXOC3L1,upstream_gene_variant,,ENST00000562887,;E2F4,missense_variant,p.Leu79Val,ENST00000565849,;E2F4,non_coding_transcript_exon_variant,,ENST00000567007,;E2F4,non_coding_transcript_exon_variant,,ENST00000561904,;E2F4,non_coding_transcript_exon_variant,,ENST00000563238,;E2F4,non_coding_transcript_exon_variant,,ENST00000568485,;E2F4,non_coding_transcript_exon_variant,,ENST00000566368,;E2F4,intron_variant,,ENST00000568839,;E2F4,intron_variant,,ENST00000569573,;EXOC3L1,upstream_gene_variant,,ENST00000564324,;E2F4,upstream_gene_variant,,ENST00000567228,;E2F4,upstream_gene_variant,,ENST00000568693,;	uc002erz.2	c.281C>G	340/2096	3	3			c.281C>G						16	SNP	c.(280-282)GCT>GGT	14	14			central_nervous_system(1)	1	Broad	E2F transcription factor 4			67226947		0.612	ENSG00000205250	4784	g.chr16:67226947C>G	G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding							6.546077	KEEP	0	3	-1	2	5	0	3	-1	7.000535	2	5	0.25	1	0	0	0	0	1	0	0	0	--	--		0	G			EXOC3L_uc002erv.1_5'Flank|EXOC3L_uc002erw.1_5'Flank|EXOC3L_uc002ery.1_5'Flank|EXOC3L_uc010vje.1_5'Flank|EXOC3L_uc002erx.1_5'Flank	160	GBM-19-1790-TP	p.A94G	C	CGGGAGATTGCTGACAAACTG	NM_001950	NP_001941	67226947	Q16254	E2F4_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)	3	344	+	G	G		Ovarian(137;0.0563)	Missense_Mutation	94			Dimerization (Potential).			
E2F6	0	broad.mit.edu	GRCh37	2	11587770	11587770	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01	TCGA-32-1977-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381525.3:c.782C>T	p.Pro261Leu	p.P261L	ENST00000381525	NM_001278278.1	261	cCa/cTa	0			1			A	P/L	uc002rbh.2	protein_coding	YES	CCDS1680.2			782/846									skin(1)	1	c.(781-783)CCA>CTA			Low_complexity_(Seg):seg,hmmpanther:PTHR12081,hmmpanther:PTHR12081:SF19	E2F transcription factor 6				ENSP00000370936		7-Jun									COSM3406808	7-Jun	.		ENST00000381525	Transcript			negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity	ENSG00000169016	g.chr2:11587770G>A	3120			MODERATE		0.205	neutral	getma.org/?cm=msa&ty=f&p=E2F6_HUMAN&rb=129&re=281&var=P261L	NA	getma.org/?cm=var&var=hg19,2,11587770,G,A&fts=all	P261L	--	--	1																																		E2F6_uc002rbe.2_Missense_Mutation_p.P186L|E2F6_uc002rbf.2_Missense_Mutation_p.P229L|E2F6_uc002rbg.2_Missense_Mutation_p.P186L|E2F6_uc002rbi.2_Missense_Mutation_p.P186L|E2F6_uc010yjl.1_RNA	1	1		unknown(0)	p.P261L	NM_198256	NP_937987		tolerated(0.08)	1	E2F6_HUMAN	E2F6	HGNC	O75461	E2F6_HUMAN		Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)	Q6Q9Z5_HUMAN,Q53YM3_HUMAN		6	1074	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		UPI0000000C90	261			Transcription repression.		SNV	E2F6,missense_variant,p.Pro261Leu,ENST00000381525,NM_001278278.1,NM_198256.3,NM_212540.2,NM_001278275.1,NM_001278276.1;E2F6,missense_variant,p.Pro186Leu,ENST00000542100,NM_001278277.1;E2F6,missense_variant,p.Pro229Leu,ENST00000307236,;E2F6,missense_variant,p.Pro186Leu,ENST00000546212,;E2F6,3_prime_UTR_variant,,ENST00000362009,;E2F6,3_prime_UTR_variant,,ENST00000444832,;E2F6,3_prime_UTR_variant,,ENST00000428221,;E2F6,3_prime_UTR_variant,,ENST00000455198,;E2F6,3_prime_UTR_variant,,ENST00000437573,;E2F6,non_coding_transcript_exon_variant,,ENST00000471343,;E2F6,downstream_gene_variant,,ENST00000468775,;E2F6,downstream_gene_variant,,ENST00000421117,;	uc002rbh.2	c.782C>T	1052/3218	2	2			c.782C>T						2	SNP	c.(781-783)CCA>CTA	28	28			skin(1)	1	Broad	E2F transcription factor 6			11587770		0.398	ENSG00000169016	4786	g.chr2:11587770G>A	negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity							127.594582	KEEP	39	29	-1	148	140	39	29	-1	152.077882	148	140	0.197917	1	0	0	0	0	1	0	0	0	--	--		0	A			E2F6_uc002rbe.2_Missense_Mutation_p.P186L|E2F6_uc002rbf.2_Missense_Mutation_p.P229L|E2F6_uc002rbg.2_Missense_Mutation_p.P186L|E2F6_uc002rbi.2_Missense_Mutation_p.P186L|E2F6_uc010yjl.1_RNA	229	GBM-32-1977-TP	p.P261L	G	AGGGCCTTCTGGATGAGTGCT	NM_198256	NP_937987	11587770	O75461	E2F6_HUMAN	0		Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)	6	1074	-	A	A	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		Missense_Mutation	261			Transcription repression.			
E2F7	0	broad.mit.edu	GRCh37	12	77426878	77426878	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-1753-01	TCGA-28-1753-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322886.7:c.1334T>C	p.Ile445Thr	p.I445T	ENST00000322886	NM_203394.2	445	aTt/aCt	0			1			G	I/T	uc001sym.3	protein_coding	YES	CCDS9016.1			1334/2736									upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3	c.(1333-1335)ATT>ACT			hmmpanther:PTHR12081,hmmpanther:PTHR12081:SF25	E2F transcription factor 7				ENSP00000323246		13-Sep									COSM3399115,COSM3399114	13-Sep	.		ENST00000322886	Transcript			cell cycle	transcription factor complex	DNA binding|identical protein binding	ENSG00000165891	g.chr12:77426878A>G	23820			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=E2F7_HUMAN&rb=368&re=567&var=I445T	NA	getma.org/?cm=var&var=hg19,12,77426878,A,G&fts=all	I445T	--	--	1																																		E2F7_uc009zse.2_5'Flank	1,1	1		benign(0.031)	p.I445T	NM_203394	NP_976328		deleterious(0.03)	1,1	E2F7_HUMAN	E2F7	HGNC	Q96AV8	E2F7_HUMAN			F8VXV5_HUMAN,F8VSE7_HUMAN		9	1570	-			UPI00001B64A1	445					SNV	E2F7,missense_variant,p.Ile445Thr,ENST00000322886,NM_203394.2;E2F7,missense_variant,p.Ile445Thr,ENST00000416496,;E2F7,missense_variant,p.Ile445Thr,ENST00000550669,;E2F7,downstream_gene_variant,,ENST00000552907,;	uc001sym.3	c.1334T>C	1570/5740	3	3			c.1334T>C						12	SNP	c.(1333-1335)ATT>ACT	49	49			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3	Broad	E2F transcription factor 7			77426878		0.353	ENSG00000165891	4787	g.chr12:77426878A>G	cell cycle	transcription factor complex	DNA binding|identical protein binding							160.300164	KEEP	33	31	-1	76	60	33	31	-1	164.895376	76	60	0.318471	1	0	0	0	0	1	0	0	0	--	--		0	G			E2F7_uc009zse.2_5'Flank	207	GBM-28-1753-TP	p.I445T	A	CAGGCTTCCAATTTCTAAAGA	NM_203394	NP_976328	77426878	Q96AV8	E2F7_HUMAN	0			9	1570	-	G	G			Missense_Mutation	445						
EAF2	0	broad.mit.edu	GRCh37	3	121573665	121573665	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-6391-01	TCGA-06-6391-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273668.2:c.333A>T	p.Lys111Asn	p.K111N	ENST00000273668	NM_018456.4	111	aaA/aaT	0			1			T	K/N	uc003een.2	protein_coding	YES	CCDS3006.1			333/783										0	c.(331-333)AAA>AAT			Pfam_domain:PF09816,hmmpanther:PTHR15970,hmmpanther:PTHR15970:SF7	ELL associated factor 2				ENSP00000273668		6-Mar										6-Mar	.		ENST00000273668	Transcript			apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding	ENSG00000145088	g.chr3:121573665A>T	23115			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=EAF2_HUMAN&rb=14&re=116&var=K111N	NA	getma.org/?cm=var&var=hg19,3,121573665,A,T&fts=all	K111N	--	--	1																																		EAF2_uc003eeo.2_Intron		1		benign(0.036)	p.K111N	NM_018456	NP_060926		deleterious(0.05)		EAF2_HUMAN	EAF2	HGNC	Q96CJ1	EAF2_HUMAN		GBM - Glioblastoma multiforme(114;0.0972)	F8WF04_HUMAN		3	432	+			UPI000000D7DA	111					SNV	EAF2,missense_variant,p.Lys111Asn,ENST00000273668,NM_018456.4;EAF2,missense_variant,p.Lys111Asn,ENST00000451944,;EAF2,3_prime_UTR_variant,,ENST00000490477,;EAF2,intron_variant,,ENST00000490434,;	uc003een.2	c.333A>T	404/992	1	1			c.333A>T						3	SNP	c.(331-333)AAA>AAT	16	16				0	Broad	ELL associated factor 2			121573665		0.249	ENSG00000145088	4791	g.chr3:121573665A>T	apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding	Esophageal Squamous(194;1942 2097 24663 29345 31866)			Esophageal Squamous(194;1942 2097 24663 29345 31866)			8.748385	KEEP	2	8	-1	32	30	2	8	-1	17.079633	32	30	0.129032	1	0	0	0	0	1	0	0	0	--	--		0	T			EAF2_uc003eeo.2_Intron	107	GBM-06-6391-TP	p.K111N	A	CTGTAAAAAAAACAAGGTATG	NM_018456	NP_060926	121573665	Q96CJ1	EAF2_HUMAN	0		GBM - Glioblastoma multiforme(114;0.0972)	3	432	+	T	T			Missense_Mutation	111						
EAPP	0	broad.mit.edu	GRCh37	14	35005432	35005432	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000250454.3:c.124C>T	p.Arg42Ter	p.R42*	ENST00000250454	NM_018453.3	42	Cga/Tga	0			1			A	R/*	uc001wsd.1	protein_coding	YES	CCDS41941.1			124/858									ovary(1)	1	c.(124-126)CGA>TGA			hmmpanther:PTHR15967	E2F-associated phosphoprotein				ENSP00000250454		6-Feb	4.14E-05		8.66E-05			6.02E-05			rs754374098,COSM2153659	6-Feb	.		ENST00000250454	Transcript			negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane		ENSG00000129518	g.chr14:35005432G>A	19312			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,14,35005432,G,A&fts=all	R42*	--	--	1																																			0,1	1			p.R42*	NM_018453	NP_060923			0,1	EAPP_HUMAN	EAPP	HGNC	Q56P03	EAPP_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)			2	233	-	Breast(36;0.0473)|Hepatocellular(127;0.158)		UPI000013CCBB	42					SNV	EAPP,stop_gained,p.Arg42Ter,ENST00000250454,NM_018453.3;EAPP,stop_gained,p.Arg21Ter,ENST00000554792,;EAPP,3_prime_UTR_variant,,ENST00000555705,;EAPP,non_coding_transcript_exon_variant,,ENST00000555683,;	uc001wsd.1	c.124C>T	206/1321	5	2			c.124C>T						14	SNP	c.(124-126)CGA>TGA	36	36			ovary(1)	1	Broad	E2F-associated phosphoprotein			35005432		0.318	ENSG00000129518	4792	g.chr14:35005432G>A	negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane								104.698574	KEEP	22	23	-1	35	40	22	23	-1	106.144974	35	40	0.368421	1	0	0	0	0	0	1	0	0	--	--		0	A				120	GBM-12-0619-TP	p.R42*	G	ATGAGTTTTCGTTTTTGGTCA	NM_018453	NP_060923	35005432	Q56P03	EAPP_HUMAN	0	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)	2	233	-	A	A	Breast(36;0.0473)|Hepatocellular(127;0.158)		Nonsense_Mutation	42						
EBF1	1879	broad.mit.edu	GRCh37	5	158140057	158140057	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313708.6:c.1290C>T	p.His430=	p.H430=	ENST00000313708	NM_024007.3	430	caC/caT	0		A:0	1	A:0		A	H	uc010jip.2	protein_coding	YES	CCDS4343.1			1290/1776	T		HMGA2		lipoma		HMGA2/EBF1(2)		soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	c.(1288-1290)CAC>CAT			hmmpanther:PTHR10747	early B-cell factor		A:0		ENSP00000322898	A:0	13/16	3.29E-05							0.000275	rs570120838,COSM2150445	13/16	.		ENST00000313708	Transcript		A:0.0002	multicellular organismal development	nucleus	DNA binding|metal ion binding	ENSG00000164330	g.chr5:158140057G>A	3126			LOW								--	--	1																																		EBF1_uc011ddw.1_Silent_p.H298H|EBF1_uc011ddx.1_Silent_p.H431H|EBF1_uc003lxl.3_Silent_p.H399H	0,1	1			p.H430H	NM_024007	NP_076870	A:0.001		0,1	COE1_HUMAN	EBF1	HGNC	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)				13	1592	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	UPI000000D95E	430					SNV	EBF1,synonymous_variant,p.=,ENST00000313708,NM_024007.3;EBF1,synonymous_variant,p.=,ENST00000380654,;EBF1,synonymous_variant,p.=,ENST00000517373,;EBF1,non_coding_transcript_exon_variant,,ENST00000518836,;EBF1,non_coding_transcript_exon_variant,,ENST00000519739,;EBF1,non_coding_transcript_exon_variant,,ENST00000519890,;EBF1,non_coding_transcript_exon_variant,,ENST00000522192,;	uc010jip.2	c.1290C>T	1573/5250	1	1			c.1290C>T	T		HMGA2		lipoma	5	SNP	c.(1288-1290)CAC>CAT	49	49	HMGA2/EBF1(2)		soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	Broad	early B-cell factor			158140057		0.557	ENSG00000164330	4795	g.chr5:158140057G>A	multicellular organismal development	nucleus	DNA binding|metal ion binding							128.068599	KEEP	34	20	-1	65	52	34	20	-1	133.139209	65	52	0.30719	1	0	0	0	0	0	0	1	0	--	--		0	A			EBF1_uc011ddw.1_Silent_p.H298H|EBF1_uc011ddx.1_Silent_p.H431H|EBF1_uc003lxl.3_Silent_p.H399H	39	GBM-06-0184-TP	p.H430H	G	TCATCCCTGCGTGGACCGAGG	NM_024007	NP_076870	158140057	Q9UH73	COE1_HUMAN	0	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		13	1592	-	A	A	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Silent	430						
EBF2	0	broad.mit.edu	GRCh37	8	25718712	25718712	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-1829-01	TCGA-14-1829-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000520164.1:c.1195G>T	p.Ala399Ser	p.A399S	ENST00000520164	NM_022659.3	399	Gct/Tct	0			1			A	A/S	uc003xes.1	protein_coding	YES	CCDS43726.1			1195/1728									ovary(3)|skin(1)	4	c.(1195-1197)GCT>TCT			hmmpanther:PTHR10747	early B-cell factor 2				ENSP00000430241		13/16									COSM3412949,COSM3412948	13/16	.		ENST00000520164	Transcript			multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	ENSG00000221818	g.chr8:25718712C>A	19090			MODERATE		2.67	medium	getma.org/?cm=msa&ty=f&p=COE2_HUMAN&rb=336&re=535&var=A399S	getma.org/pdb.php?prot=COE2_HUMAN&from=336&to=535&var=A399S	getma.org/?cm=var&var=hg19,8,25718712,C,A&fts=all	A399S	--	--	1																																		PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_RNA	1,1	1		probably_damaging(0.924)	p.A399S	NM_022659	NP_073150		tolerated_low_confidence(0.09)	1,1	COE2_HUMAN	EBF2	HGNC	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	B7Z934_HUMAN,B2RNT0_HUMAN		13	1212	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	UPI0000DD7EC9	399					SNV	EBF2,missense_variant,p.Ala399Ser,ENST00000520164,NM_022659.3;EBF2,missense_variant,p.Ala251Ser,ENST00000408929,;EBF2,missense_variant,p.Ala130Ser,ENST00000535548,;	uc003xes.1	c.1195G>T	1733/5145	2	2			c.1195G>T						8	SNP	c.(1195-1197)GCT>TCT	45	45			ovary(3)|skin(1)	4	Broad	early B-cell factor 2			25718712		0.493	ENSG00000221818	4796	g.chr8:25718712C>A	multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)			Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)			172.137551	KEEP	37	30	0.447761194	59	60	37	30	0.447761194	173.850394	59	60	0.385135	1	0	0	0	0	1	0	0	0	--	--		0	A			PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_RNA	149	GBM-14-1829-TP	p.A399S	C	AGAGCTTCAGCAATGTCTGCG	NM_022659	NP_073150	25718712	Q9HAK2	COE2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	13	1212	-	A	A		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	Missense_Mutation	399						
EBF2	0	broad.mit.edu	GRCh37	8	25718727	25718727	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5955-01	TCGA-19-5955-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000520164.1:c.1180C>T	p.Arg394Ter	p.R394*	ENST00000520164	NM_022659.3	394	Cga/Tga	0			1			A	R/*	uc003xes.1	protein_coding	YES	CCDS43726.1			1180/1728									ovary(3)|skin(1)	4	c.(1180-1182)CGA>TGA			hmmpanther:PTHR10747	early B-cell factor 2				ENSP00000430241		13/16									COSM3412951,COSM3412950	13/16	.		ENST00000520164	Transcript			multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	ENSG00000221818	g.chr8:25718727G>A	19090			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,8,25718727,G,A&fts=all	R394*	--	--	1																																		PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_RNA	1,1	1			p.R394*	NM_022659	NP_073150			1,1	COE2_HUMAN	EBF2	HGNC	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	B7Z934_HUMAN,B2RNT0_HUMAN		13	1197	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	UPI0000DD7EC9	394					SNV	EBF2,stop_gained,p.Arg394Ter,ENST00000520164,NM_022659.3;EBF2,stop_gained,p.Arg246Ter,ENST00000408929,;EBF2,stop_gained,p.Arg125Ter,ENST00000535548,;	uc003xes.1	c.1180C>T	1718/5145	5	2			c.1180C>T						8	SNP	c.(1180-1182)CGA>TGA	46	46			ovary(3)|skin(1)	4	Broad	early B-cell factor 2			25718727		0.488	ENSG00000221818	4796	g.chr8:25718727G>A	multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)			Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)			36.424633	KEEP	9	10	-1	39	55	9	10	-1	45.79219	39	55	0.186275	1	0	0	0	0	0	1	0	0	--	--		0	A			PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_RNA	175	GBM-19-5955-TP	p.R394*	G	TCTGCGGCTCGCTTCAAAATG	NM_022659	NP_073150	25718727	Q9HAK2	COE2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	13	1197	-	A	A		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	Nonsense_Mutation	394						
EBF2	0	broad.mit.edu	GRCh37	8	25766052	25766052	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-27-1835-01	TCGA-27-1835-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000520164.1:c.571C>A	p.Leu191Ile	p.L191I	ENST00000520164	NM_022659.3	191	Ctc/Atc	0			1			T	L/I	uc003xes.1	protein_coding	YES	CCDS43726.1			571/1728									ovary(3)|skin(1)	4	c.(571-573)CTC>ATC			hmmpanther:PTHR10747	early B-cell factor 2				ENSP00000430241		16-Jul									COSM2157234,COSM2157233	16-Jul	.		ENST00000520164	Transcript			multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	ENSG00000221818	g.chr8:25766052G>T	19090			MODERATE		2.305	medium	getma.org/?cm=msa&ty=f&p=COE2_HUMAN&rb=1&re=200&var=L191I	getma.org/pdb.php?prot=COE2_HUMAN&from=1&to=200&var=L191I	getma.org/?cm=var&var=hg19,8,25766052,G,T&fts=all	L191I	--	--	1																																		PPP2R2A_uc003xek.2_Intron	1,1	1		probably_damaging(0.934)	p.L191I	NM_022659	NP_073150		deleterious(0.01)	1,1	COE2_HUMAN	EBF2	HGNC	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	B7Z934_HUMAN,B2RNT0_HUMAN		7	588	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	UPI0000DD7EC9	191					SNV	EBF2,missense_variant,p.Leu191Ile,ENST00000520164,NM_022659.3;EBF2,missense_variant,p.Leu43Ile,ENST00000408929,;	uc003xes.1	c.571C>A	1109/5145	2	2			c.571C>A						8	SNP	c.(571-573)CTC>ATC	30	30			ovary(3)|skin(1)	4	Broad	early B-cell factor 2			25766052		0.363	ENSG00000221818	4796	g.chr8:25766052G>T	multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)			Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)			93.008482	KEEP	10	24	0.294117647	24	29	10	24	0.294117647	93.726499	24	29	0.397436	1	0	0	0	0	1	0	0	0	--	--		0	T			PPP2R2A_uc003xek.2_Intron	194	GBM-27-1835-TP	p.L191I	G	TTGCACTTGAGGAAAAATTTT	NM_022659	NP_073150	25766052	Q9HAK2	COE2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	7	588	-	T	T		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	Missense_Mutation	191						
EBF3	0	broad.mit.edu	GRCh37	10	131755521	131755521	+	splice_donor_variant	Splice_Site	SNP	C	C	G			TCGA-12-5301-01	TCGA-12-5301-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355311.5:c.554+1G>C		p.X185_splice	ENST00000355311				0			1			G		uc001lki.1	protein_coding					554/1791									central_nervous_system(1)|pancreas(1)	2	c.e6+1				early B-cell factor 3				ENSP00000347463											COSM3396994,COSM3396995		.		ENST00000355311	Transcript			multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	ENSG00000108001	g.chr10:131755521C>G	19087			HIGH	15-Jun							--	--	1																																			1,1				p.R185_splice	NM_001005463	NP_001005463			1,1	COE3_HUMAN	EBF3	HGNC	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)			6	613	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	UPI0000127E28						SNV	EBF3,splice_donor_variant,,ENST00000368648,NM_001005463.2;EBF3,splice_donor_variant,,ENST00000355311,;	uc001lki.1	c.554_splice	-/2993	5	4			c.554_splice						10	SNP	c.e6+1	24	24			central_nervous_system(1)|pancreas(1)	2	Broad	early B-cell factor 3			131755521		0.423	ENSG00000108001	4797	g.chr10:131755521C>G	multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding							-31.213901	KEEP	1	3	-1	82	79	1	3	-1	6.384931	82	79	0.020548	1	0	0	0	0	0	0	0	1	--	--		0	G				131	GBM-12-5301-TP	p.R185_splice	C	GTCATCCTTACCTGTCAATGA	NM_001005463	NP_001005463	131755521	Q9H4W6	COE3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	6	613	-	G	G		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	Splice_Site							
EBF3	0	broad.mit.edu	GRCh37	10	131676050	131676050	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-14-4157-01	TCGA-14-4157-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355311.5:c.618A>G	p.Arg206=	p.R206=	ENST00000355311		206	cgA/cgG	0			1			C	R	uc001lki.1	protein_coding					618/1791									central_nervous_system(1)|pancreas(1)	2	c.(616-618)CGA>CGG			hmmpanther:PTHR10747	early B-cell factor 3				ENSP00000347463		16-Jul									COSM3396992,COSM3396993	16-Jul	.		ENST00000355311	Transcript			multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	ENSG00000108001	g.chr10:131676050T>C	19087			LOW								--	--	1																																			1,1				p.R206R	NM_001005463	NP_001005463			1,1	COE3_HUMAN	EBF3	HGNC	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)			7	677	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	UPI0000127E28	206					SNV	EBF3,synonymous_variant,p.=,ENST00000368648,NM_001005463.2;EBF3,synonymous_variant,p.=,ENST00000355311,;	uc001lki.1	c.618A>G	691/2993	3	3			c.618A>G						10	SNP	c.(616-618)CGA>CGG	16	16			central_nervous_system(1)|pancreas(1)	2	Broad	early B-cell factor 3			131676050		0.368	ENSG00000108001	4797	g.chr10:131676050T>C	multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding							-1.680907	KEEP	4	0	-1	27	23	4	0	-1	6.628721	27	23	0.051282	1	0	0	0	0	0	0	1	0	--	--		0	C				152	GBM-14-4157-TP	p.R206R	T	TCCGCATATCTCGAGGGTTGC	NM_001005463	NP_001005463	131676050	Q9H4W6	COE3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	7	677	-	C	C		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	Silent	206						
EBF3	0	broad.mit.edu	GRCh37	10	131640486	131640486	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-27-1831-01	TCGA-27-1831-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355311.5:c.1266C>G	p.Ile422Met	p.I422M	ENST00000355311		422	atC/atG	0			1			C	I/M	uc001lki.1	protein_coding					1266/1791									central_nervous_system(1)|pancreas(1)	2	c.(1237-1239)ATC>ATG			hmmpanther:PTHR10747	early B-cell factor 3				ENSP00000347463		13/16									COSM3396990,COSM3396991	13/16	.		ENST00000355311	Transcript			multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	ENSG00000108001	g.chr10:131640486G>C	19087			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=COE3_HUMAN&rb=346&re=545&var=I422M	NA	getma.org/?cm=var&var=hg19,10,131640486,G,C&fts=all	I422M	--	--	1																																			1,1			probably_damaging(0.991)	p.I413M	NM_001005463	NP_001005463		deleterious_low_confidence(0.05)	1,1	COE3_HUMAN	EBF3	HGNC	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)			13	1298	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	UPI0000127E28	422					SNV	EBF3,missense_variant,p.Ile413Met,ENST00000368648,NM_001005463.2;EBF3,missense_variant,p.Ile422Met,ENST00000355311,;EBF3,upstream_gene_variant,,ENST00000440978,;MIR4297,downstream_gene_variant,,ENST00000579857,;	uc001lki.1	c.1239C>G	1339/2993	3	3			c.1239C>G						10	SNP	c.(1237-1239)ATC>ATG	13	13			central_nervous_system(1)|pancreas(1)	2	Broad	early B-cell factor 3			131640486		0.617	ENSG00000108001	4797	g.chr10:131640486G>C	multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding							175.721547	KEEP	28	35	-1	90	92	28	35	-1	185.063447	90	92	0.277512	1	0	0	0	0	1	0	0	0	--	--		0	C				190	GBM-27-1831-TP	p.I413M	G	CCAGGGTGGGGATCTGGTTGT	NM_001005463	NP_001005463	131640486	Q9H4W6	COE3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	13	1298	-	C	C		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	Missense_Mutation	422						
EBPL	84650	broad.mit.edu	GRCh37	13	50243922	50243922	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000242827.6:c.232G>T	p.Ala78Ser	p.A78S	ENST00000242827	NM_032565.4	78	Gct/Tct	0			1			A	A/S	uc001vdg.2	protein_coding	YES	CCDS9420.1			232/621										0	c.(232-234)GCT>TCT			hmmpanther:PTHR14207,hmmpanther:PTHR14207:SF1,Pfam_domain:PF05241	emopamil binding related protein, delta8-delta7				ENSP00000242827		4-Feb									COSM2151424,COSM3399409	4-Feb	.		ENST00000242827	Transcript			sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity	ENSG00000123179	g.chr13:50243922C>A	18061			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=EBPL_HUMAN&rb=11&re=201&var=A78S	NA	getma.org/?cm=var&var=hg19,13,50243922,C,A&fts=all	A78S	--	--	1																																OREG0022412	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	EBPL_uc001vdh.2_RNA|EBPL_uc001vdi.2_Missense_Mutation_p.A78S	1,1	1		possibly_damaging(0.9)	p.A78S	NM_032565	NP_115954		deleterious(0.03)	1,1	EBPL_HUMAN	EBPL	HGNC	Q9BY08	EBPL_HUMAN		GBM - Glioblastoma multiforme(99;2.06e-09)			2	295	-		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	UPI000003617A	78					SNV	EBPL,missense_variant,p.Ala78Ser,ENST00000378284,NM_001278636.1;EBPL,missense_variant,p.Ala78Ser,ENST00000242827,NM_032565.4;EBPL,missense_variant,p.Ala78Ser,ENST00000378272,;EBPL,missense_variant,p.Ala78Ser,ENST00000378268,;EBPL,missense_variant,p.Ala78Ser,ENST00000378282,;EBPL,intron_variant,,ENST00000378270,;EBPL,non_coding_transcript_exon_variant,,ENST00000495963,;EBPL,intron_variant,,ENST00000473576,;AL135901.1,downstream_gene_variant,,ENST00000366359,;	uc001vdg.2	c.232G>T	283/914	1	1			c.232G>T						13	SNP	c.(232-234)GCT>TCT	63	63				0	Broad	emopamil binding related protein, delta8-delta7			50243922		0.358	ENSG00000123179	4802	g.chr13:50243922C>A	sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity	NSCLC(39;857 1083 36109 42364 51411)			NSCLC(39;857 1083 36109 42364 51411)			24.130812	KEEP	12	3	0.2	29	28	12	3	0.2	28.514752	29	28	0.225806	1	0	0	0	0	1	0	0	0	--	--		0	A	OREG0022412	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	EBPL_uc001vdh.2_RNA|EBPL_uc001vdi.2_Missense_Mutation_p.A78S	62	GBM-06-0649-TP	p.A78S	C	CATAAAGAAGCAATCAAGCCA	NM_032565	NP_115954	50243922	Q9BY08	EBPL_HUMAN	0		GBM - Glioblastoma multiforme(99;2.06e-09)	2	295	-	A	A		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	Missense_Mutation	78						
ECE2	0	broad.mit.edu	GRCh37	3	184009860	184009860	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000402825.3:c.2486C>T	p.Ser829Leu	p.S829L	ENST00000402825	NM_014693.3	829	tCg/tTg	0			1			T	S/L	uc003fni.3	protein_coding	YES	CCDS3256.2			2486/2652									ovary(2)|skin(2)	4	c.(2485-2487)TCG>TTG			hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF122,Gene3D:3.40.390.10,Pfam_domain:PF01431,Superfamily_domains:SSF55486	endothelin converting enzyme 2 isoform A				ENSP00000384223		19/19									COSM3408479,COSM3408478,COSM3408477	19/19	.		ENST00000402825	Transcript			brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	ENSG00000145194	g.chr3:184009860C>T	13275			MODERATE		2.975	medium	getma.org/?cm=msa&ty=f&p=ECE2_HUMAN&rb=679&re=882&var=S829L	getma.org/pdb.php?prot=ECE2_HUMAN&from=679&to=882&var=S829L	getma.org/?cm=var&var=hg19,3,184009860,C,T&fts=all	S829L	--	--	1																																		ECE2_uc003fnl.3_Missense_Mutation_p.S757L|ECE2_uc003fnm.3_Missense_Mutation_p.S711L|ECE2_uc003fnk.3_Missense_Mutation_p.S682L	1,1,1	1		possibly_damaging(0.659)	p.S829L	NM_014693	NP_055508		tolerated(0.05)	1,1,1	ECE2_HUMAN	ECE2	HGNC	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)				19	2524	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		UPI0001596888	829			Lumenal (Potential).|Endothelin-converting enzyme 2 region.		SNV	ECE2,missense_variant,p.Ser829Leu,ENST00000402825,NM_014693.3;ECE2,missense_variant,p.Ser711Leu,ENST00000404464,NM_001100121.1,NM_001100120.1;ECE2,missense_variant,p.Ser682Leu,ENST00000359140,NM_001037324.2;ECE2,missense_variant,p.Ser757Leu,ENST00000357474,;EIF2B5,intron_variant,,ENST00000444495,;ECE2,downstream_gene_variant,,ENST00000430587,;ECE2,downstream_gene_variant,,ENST00000488401,;ECE2,downstream_gene_variant,,ENST00000490579,;	uc003fni.3	c.2486C>T	2486/3445	1	1			c.2486C>T						3	SNP	c.(2485-2487)TCG>TTG	15	15			ovary(2)|skin(2)	4	Broad	endothelin converting enzyme 2 isoform A			184009860		0.647	ENSG00000145194	4805	g.chr3:184009860C>T	brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity							272.543052	KEEP	40	64	-1	44	36	40	64	-1	272.945157	44	36	0.55414	1	0	0	0	0	1	0	0	0	--	--		0	T			ECE2_uc003fnl.3_Missense_Mutation_p.S757L|ECE2_uc003fnm.3_Missense_Mutation_p.S711L|ECE2_uc003fnk.3_Missense_Mutation_p.S682L	271	GBM-76-4932-TP	p.S829L	C	GTGTGGTGCTCGGTCCGCACA	NM_014693	NP_055508	184009860	O60344	ECE2_HUMAN	0	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		19	2524	+	T	T	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Missense_Mutation	829			Lumenal (Potential).|Endothelin-converting enzyme 2 region.			
ECEL1	9427	broad.mit.edu	GRCh37	2	233347307	233347307	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304546.1:c.1697C>T	p.Pro566Leu	p.P566L	ENST00000304546	NM_004826.2	566	cCc/cTc	0			1			A	P/L	uc002vsv.2	protein_coding	YES	CCDS2493.1			1697/2328									central_nervous_system(2)	2	c.(1696-1698)CCC>CTC			Prints_domain:PR00786,Superfamily_domains:SSF55486,Gene3D:3.40.390.10,hmmpanther:PTHR11733:SF108,hmmpanther:PTHR11733	endothelin converting enzyme-like 1				ENSP00000302051		18-Nov									COSM2149364	18-Nov	.		ENST00000304546	Transcript	1		neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	ENSG00000171551	g.chr2:233347307G>A	3147			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=ECEL1_HUMAN&rb=514&re=570&var=P566L	NA	getma.org/?cm=var&var=hg19,2,233347307,G,A&fts=all	P566L	--	--	1																																		ECEL1_uc010fya.1_Missense_Mutation_p.P564L|ECEL1_uc010fyb.1_Missense_Mutation_p.P273L	1	1		probably_damaging(0.997)	p.P566L	NM_004826	NP_004817		deleterious(0.01)	1	ECEL1_HUMAN	ECEL1	HGNC	O95672	ECEL1_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)			11	1902	-		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	UPI000013E997	566			Lumenal (Potential).		SNV	ECEL1,missense_variant,p.Pro566Leu,ENST00000304546,NM_004826.2;ECEL1,missense_variant,p.Pro564Leu,ENST00000409941,;ECEL1,upstream_gene_variant,,ENST00000411860,;ECEL1,non_coding_transcript_exon_variant,,ENST00000482346,;	uc002vsv.2	c.1697C>T	1908/2865	2	2			c.1697C>T						2	SNP	c.(1696-1698)CCC>CTC	33	33			central_nervous_system(2)	2	Broad	endothelin converting enzyme-like 1			233347307		0.617	ENSG00000171551	4806	g.chr2:233347307G>A	neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity							227.198692	KEEP	43	39	-1	45	49	43	39	-1	227.585744	45	49	0.447205	1	0	0	0	0	1	0	0	0	--	--		0	A			ECEL1_uc010fya.1_Missense_Mutation_p.P564L|ECEL1_uc010fyb.1_Missense_Mutation_p.P273L	12	GBM-06-0125-TP	p.P566L	G	CGCCTGTGGGGGGAGCAGCCA	NM_004826	NP_004817	233347307	O95672	ECEL1_HUMAN	0		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	11	1902	-	A	A		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	Missense_Mutation	566			Lumenal (Potential).			
ECEL1	0	broad.mit.edu	GRCh37	2	233346218	233346218	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01	TCGA-12-0821-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304546.1:c.1987C>T	p.Arg663Trp	p.R663W	ENST00000304546	NM_004826.2	663	Cgg/Tgg	0			1			A	R/W	uc002vsv.2	protein_coding	YES	CCDS2493.1			1987/2328									central_nervous_system(2)	2	c.(1987-1989)CGG>TGG			Superfamily_domains:SSF55486,Gene3D:3.40.390.10,Pfam_domain:PF01431,hmmpanther:PTHR11733:SF108,hmmpanther:PTHR11733	endothelin converting enzyme-like 1				ENSP00000302051		14/18	8.24E-06		0.000154						rs768312431,COSM3407665	14/18	.		ENST00000304546	Transcript	1		neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	ENSG00000171551	g.chr2:233346218G>A	3147			MODERATE		2.315	medium	getma.org/?cm=msa&ty=f&p=ECEL1_HUMAN&rb=571&re=774&var=R663W	getma.org/pdb.php?prot=ECEL1_HUMAN&from=571&to=774&var=R663W	getma.org/?cm=var&var=hg19,2,233346218,G,A&fts=all	R663W	--	--	1																																		ECEL1_uc010fya.1_Missense_Mutation_p.R661W|ECEL1_uc010fyb.1_Missense_Mutation_p.R370W	0,1	1		possibly_damaging(0.907)	p.R663W	NM_004826	NP_004817		deleterious(0.01)	0,1	ECEL1_HUMAN	ECEL1	HGNC	O95672	ECEL1_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)			14	2192	-		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	UPI000013E997	663			Lumenal (Potential).		SNV	ECEL1,missense_variant,p.Arg663Trp,ENST00000304546,NM_004826.2;ECEL1,missense_variant,p.Arg661Trp,ENST00000409941,;ECEL1,missense_variant,p.Arg78Trp,ENST00000411860,;ECEL1,splice_region_variant,,ENST00000482346,;	uc002vsv.2	c.1987C>T	2198/2865	2	2			c.1987C>T						2	SNP	c.(1987-1989)CGG>TGG	17	17			central_nervous_system(2)	2	Broad	endothelin converting enzyme-like 1			233346218		0.622	ENSG00000171551	4806	g.chr2:233346218G>A	neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity							45.990095	KEEP	8	9	-1	13	9	8	9	-1	46.046545	13	9	0.457143	1	0	0	0	0	1	0	0	0	--	--		0	A			ECEL1_uc010fya.1_Missense_Mutation_p.R661W|ECEL1_uc010fyb.1_Missense_Mutation_p.R370W	123	GBM-12-0821-TP	p.R663W	G	GGTCTCACCCGCTGGTTGTAG	NM_004826	NP_004817	233346218	O95672	ECEL1_HUMAN	0		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	14	2192	-	A	A		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	Missense_Mutation	663			Lumenal (Potential).			
ECHDC2	55268		GRCh37	1	53370462	53370462	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000371522.4:c.558G>A	p.Ala186=	p.A186=	ENST00000371522	NM_001198961.1	186	gcG/gcA	0																																																																																																																																																																																																																																												
ECHS1	0	broad.mit.edu	GRCh37	10	135183513	135183513	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01	TCGA-06-6695-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368547.3:c.309G>A	p.Met103Ile	p.M103I	ENST00000368547	NM_004092.3	103	atG/atA	0			1			T	M/I	uc001lmu.2	protein_coding	YES	CCDS7681.1			309/873										0	c.(307-309)ATG>ATA			hmmpanther:PTHR11941,hmmpanther:PTHR11941:SF24,Pfam_domain:PF00378,Gene3D:3.90.226.10,Superfamily_domains:SSF52096	mitochondrial short-chain enoyl-coenzyme A				ENSP00000357535		8-Mar									COSM3397011	8-Mar	.		ENST00000368547	Transcript	1		fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding	ENSG00000127884	g.chr10:135183513C>T	3151			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=ECHM_HUMAN&rb=40&re=282&var=M103I	getma.org/pdb.php?prot=ECHM_HUMAN&from=40&to=282&var=M103I	getma.org/?cm=var&var=hg19,10,135183513,C,T&fts=all	M103I	--	--	1																																			1	1		possibly_damaging(0.752)	p.M103I	NM_004092	NP_004083		deleterious(0)	1	ECHM_HUMAN	ECHS1	HGNC	P30084	ECHM_HUMAN		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)			3	380	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	UPI000013CC49	103					SNV	ECHS1,missense_variant,p.Met103Ile,ENST00000368547,NM_004092.3;MIR3944,downstream_gene_variant,,ENST00000581277,;	uc001lmu.2	c.309G>A	665/1617	1	1			c.309G>A						10	SNP	c.(307-309)ATG>ATA	1	1				0	Broad	mitochondrial short-chain enoyl-coenzyme A			135183513		0.517	ENSG00000127884	4811	g.chr10:135183513C>T	fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding	GBM(132;1720 1771 5373 10277 21402)			GBM(132;1720 1771 5373 10277 21402)			51.080884	KEEP	12	6	-1	2	7	12	6	-1	52.012536	2	7	0.708333	1	0	0	0	0	1	0	0	0	--	--		0	T				110	GBM-06-6695-TP	p.M103I	C	TCAGGTTCTGCATTTCCTTGA	NM_004092	NP_004083	135183513	P30084	ECHM_HUMAN	0		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)	3	380	-	T	T		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	Missense_Mutation	103						
ECM2	0	broad.mit.edu	GRCh37	9	95263237	95263237	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-27-2524-01	TCGA-27-2524-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344604.5:c.1703T>C	p.Ile568Thr	p.I568T	ENST00000344604	NM_001393.3	568	aTt/aCt	0			1			G	I/T	uc004ash.2	protein_coding	YES	CCDS6698.1			1703/2100									ovary(1)|skin(1)	2	c.(1702-1704)ATT>ACT			Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24371,hmmpanther:PTHR24371:SF56,SMART_domains:SM00369,Superfamily_domains:SSF52047	extracellular matrix protein 2 precursor				ENSP00000344758		10-Sep	8.24E-06		8.64E-05						rs780400206,COSM3413815,COSM3413816	10-Sep	.		ENST00000344604	Transcript			cell-matrix adhesion		integrin binding	ENSG00000106823	g.chr9:95263237A>G	3154			MODERATE		3.855	high	getma.org/?cm=msa&ty=f&p=ECM2_HUMAN&rb=548&re=607&var=I568T	NA	getma.org/?cm=var&var=hg19,9,95263237,A,G&fts=all	I568T	--	--	1																																		CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Missense_Mutation_p.I546T|ECM2_uc011lty.1_Missense_Mutation_p.I568T|ECM2_uc004asg.2_Missense_Mutation_p.I546T|ECM2_uc010mqz.1_5'UTR	0,1,1	1		probably_damaging(0.992)	p.I568T	NM_001393	NP_001384		deleterious(0)	0,1,1	ECM2_HUMAN	ECM2	HGNC	O94769	ECM2_HUMAN			Q5T9F4_HUMAN,B4DPC6_HUMAN		9	1768	-			UPI0000129B80	568			LRR 9.		SNV	ECM2,missense_variant,p.Ile568Thr,ENST00000344604,NM_001393.3,NM_001197295.1;ECM2,missense_variant,p.Ile546Thr,ENST00000444490,NM_001197296.1;CENPP,intron_variant,,ENST00000375587,NM_001012267.1;	uc004ash.2	c.1703T>C	1853/3253	3	3			c.1703T>C						9	SNP	c.(1702-1704)ATT>ACT	56	56			ovary(1)|skin(1)	2	Broad	extracellular matrix protein 2 precursor			95263237		0.478	ENSG00000106823	4813	g.chr9:95263237A>G	cell-matrix adhesion		integrin binding							-4.073491	KEEP	5	6	-1	76	73	5	6	-1	26.201957	76	73	0.064935	1	0	0	0	0	1	0	0	0	--	--		0	G			CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Missense_Mutation_p.I546T|ECM2_uc011lty.1_Missense_Mutation_p.I568T|ECM2_uc004asg.2_Missense_Mutation_p.I546T|ECM2_uc010mqz.1_5'UTR	202	GBM-27-2524-TP	p.I568T	A	GATCCGTTCAATCTGGTTCCC	NM_001393	NP_001384	95263237	O94769	ECM2_HUMAN	0			9	1768	-	G	G			Missense_Mutation	568			LRR 9.			
ECT2	1894		GRCh37	3	172501613	172501613	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000392692.3:c.1642C>G	p.Pro548Ala	p.P548A	ENST00000392692	NM_001258315.1	548	Cct/Gct	0																																																																																																																																																																																																																																												
ECT2L	345930		GRCh37	6	139208055	139208055	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000423192.1:c.2321G>A	p.Cys774Tyr	p.C774Y	ENST00000423192		774	tGc/tAc	0																																																																																																																																																																																																																																												
EDA	1896	broad.mit.edu	GRCh37	X	69253319	69253319	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01	TCGA-06-2562-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374552.4:c.865C>T	p.Arg289Cys	p.R289C	ENST00000374552	NM_001399.4	289	Cgc/Tgc	0			1			T	R/C	uc004dxs.2	protein_coding	YES	CCDS14394.1			865/1176									ovary(2)|large_intestine(1)	3	c.(865-867)CGC>TGC			Gene3D:2.60.120.40,Pfam_domain:PF00229,PROSITE_profiles:PS50049,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF62,Superfamily_domains:SSF49842	ectodysplasin A isoform EDA-A1				ENSP00000363680		8-Jul									COSM2152799,COSM2152800	8-Jul	.		ENST00000374552	Transcript	1		cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding	ENSG00000158813	g.chrX:69253319C>T	3157			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=EDA_HUMAN&rb=272&re=385&var=R289C	getma.org/pdb.php?prot=EDA_HUMAN&from=272&to=385&var=R289C	getma.org/?cm=var&var=hg19,X,69253319,C,T&fts=all	R289C	--	--	1																																OREG0019847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	EDA_uc004dxr.2_Missense_Mutation_p.R289C|EDA_uc011mpj.1_Missense_Mutation_p.R286C	1,1	1		probably_damaging(0.99)	p.R289C	NM_001399	NP_001390		deleterious_low_confidence(0)	1,1	EDA_HUMAN	EDA	HGNC	Q92838	EDA_HUMAN			D6RA95_HUMAN		7	1107	+			UPI0000052244	289			Extracellular (Potential).		SNV	EDA,missense_variant,p.Arg289Cys,ENST00000374552,NM_001399.4;EDA,missense_variant,p.Arg289Cys,ENST00000374553,NM_001005609.1,NM_001005612.2;EDA,missense_variant,p.Arg286Cys,ENST00000524573,;EDA,downstream_gene_variant,,ENST00000503592,;	uc004dxs.2	c.865C>T	1107/5278	2	2			c.865C>T						23	SNP	c.(865-867)CGC>TGC	32	32			ovary(2)|large_intestine(1)	3	Broad	ectodysplasin A isoform EDA-A1			69253319		0.498	ENSG00000158813	4818	g.chrX:69253319C>T	cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding							385.503547	KEEP	53	70	-1	13	16	53	70	-1	397.420479	13	16	0.804348	1	0	0	0	0	1	0	0	0	--	--		0	T	OREG0019847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	EDA_uc004dxr.2_Missense_Mutation_p.R289C|EDA_uc011mpj.1_Missense_Mutation_p.R286C	85	GBM-06-2562-TP	p.R289C	C	GCTACATCCCCGCAGCGGGGA	NM_001399	NP_001390	69253319	Q92838	EDA_HUMAN	0			7	1107	+	T	T			Missense_Mutation	289			Extracellular (Potential).			
EDA	0	broad.mit.edu	GRCh37	X	69250324	69250324	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-19-1790-01	TCGA-19-1790-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374552.4:c.747T>C	p.Ala249=	p.A249=	ENST00000374552	NM_001399.4	249	gcT/gcC	0			1			C	A	uc004dxs.2	protein_coding	YES	CCDS14394.1			747/1176									ovary(2)|large_intestine(1)	3	c.(745-747)GCT>GCC			Gene3D:2.60.120.40,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF62,Superfamily_domains:SSF49842	ectodysplasin A isoform EDA-A1				ENSP00000363680		8-Jun									COSM3748202,COSM3748203	8-Jun	.		ENST00000374552	Transcript	1		cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding	ENSG00000158813	g.chrX:69250324T>C	3157			LOW								--	--	1																																OREG0019846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	EDA_uc004dxr.2_Silent_p.A249A|EDA_uc011mpj.1_Silent_p.A249A	1,1	1			p.A249A	NM_001399	NP_001390			1,1	EDA_HUMAN	EDA	HGNC	Q92838	EDA_HUMAN			D6RA95_HUMAN		6	989	+			UPI0000052244	249			Extracellular (Potential).		SNV	EDA,synonymous_variant,p.=,ENST00000374552,NM_001399.4;EDA,synonymous_variant,p.=,ENST00000374553,NM_001005609.1,NM_001005612.2;EDA,synonymous_variant,p.=,ENST00000524573,;EDA,synonymous_variant,p.=,ENST00000503592,;	uc004dxs.2	c.747T>C	989/5278	3	3			c.747T>C						23	SNP	c.(745-747)GCT>GCC	7	7			ovary(2)|large_intestine(1)	3	Broad	ectodysplasin A isoform EDA-A1			69250324		0.502	ENSG00000158813	4818	g.chrX:69250324T>C	cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding							4.637589	KEEP	0	2	-1	5	11	0	2	-1	7.080249	5	11	0.117647	1	0	0	0	0	0	0	1	0	--	--		0	C	OREG0019846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	EDA_uc004dxr.2_Silent_p.A249A|EDA_uc011mpj.1_Silent_p.A249A	160	GBM-19-1790-TP	p.A249A	T	GCCAGCCAGCTGTGGTGCATC	NM_001399	NP_001390	69250324	Q92838	EDA_HUMAN	0			6	989	+	C	C			Silent	249			Extracellular (Potential).			
EDAR	10913		GRCh37	2	109522815	109522815	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000258443.2:c.973C>T	p.Arg325Trp	p.R325W	ENST00000258443	NM_022336.3	325	Cgg/Tgg	0																																																																																																																																																																																																																																												
EDARADD	0	broad.mit.edu	GRCh37	1	236590728	236590728	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334232.4:c.197G>A	p.Arg66Gln	p.R66Q	ENST00000334232	NM_145861.2	66	cGa/cAa	0			1			A	R/Q	uc001hxu.1	protein_coding	YES	CCDS1610.1			197/648										0	c.(196-198)CGA>CAA				EDAR-associated death domain isoform A				ENSP00000335076		6-Apr									COSM228840	6-Apr	.		ENST00000334232	Transcript	1		cell differentiation|signal transduction	cytoplasm		ENSG00000186197	g.chr1:236590728G>A	14341			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=EDAD_HUMAN&rb=1&re=120&var=R66Q	NA	getma.org/?cm=var&var=hg19,1,236590728,G,A&fts=all	R66Q	--	--	1																																		EDARADD_uc001hxv.1_Missense_Mutation_p.R56Q	1	1		benign(0)	p.R66Q	NM_145861	NP_665860		tolerated(0.28)	1	EDAD_HUMAN	EDARADD	HGNC	Q8WWZ3	EDAD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		B1AL55_HUMAN		4	262	+	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	UPI0000456324	66					SNV	EDARADD,missense_variant,p.Arg56Gln,ENST00000359362,NM_080738.3;EDARADD,missense_variant,p.Arg66Gln,ENST00000334232,NM_145861.2;EDARADD,missense_variant,p.Arg44Gln,ENST00000439430,;	uc001hxu.1	c.197G>A	364/858	1	1			c.197G>A						1	SNP	c.(196-198)CGA>CAA	51	51				0	Broad	EDAR-associated death domain isoform A			236590728		0.249	ENSG00000186197	4821	g.chr1:236590728G>A	cell differentiation|signal transduction	cytoplasm								86.592954	KEEP	17	15	-1	22	24	17	15	-1	87.053808	22	24	0.411765	1	0	0	0	0	1	0	0	0	--	--		0	A			EDARADD_uc001hxv.1_Missense_Mutation_p.R56Q	142	GBM-14-1034-TP	p.R66Q	G	AACTGCCCACGAAATTCAGAT	NM_145861	NP_665860	236590728	Q8WWZ3	EDAD_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		4	262	+	A	A	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	Missense_Mutation	66						
EDC4	0	broad.mit.edu	GRCh37	16	67917522	67917522	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6700-01	TCGA-06-6700-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358933.5:c.3901G>A	p.Asp1301Asn	p.D1301N	ENST00000358933	NM_014329.4	1301	Gac/Aac	0			1			A	D/N	uc002eur.2	protein_coding	YES	CCDS10849.1			3901/4206									ovary(2)|central_nervous_system(2)	4	c.(3901-3903)GAC>AAC			hmmpanther:PTHR15598	autoantigen RCD8				ENSP00000351811		28/29									COSM3402434	28/29	.		ENST00000358933	Transcript			exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	ENSG00000038358	g.chr16:67917522G>A	17157			MODERATE		1.975	medium	getma.org/?cm=msa&ty=f&p=EDC4_HUMAN&rb=1294&re=1401&var=D1301N	getma.org/pdb.php?prot=EDC4_HUMAN&from=1294&to=1401&var=D1301N	getma.org/?cm=var&var=hg19,16,67917522,G,A&fts=all	D1301N	--	--	1																																OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	EDC4_uc010cer.2_Missense_Mutation_p.D920N|EDC4_uc002eus.2_Missense_Mutation_p.D1031N|EDC4_uc002eut.1_3'UTR|NRN1L_uc002euu.2_5'Flank	1	1		probably_damaging(0.982)	p.D1301N	NM_014329	NP_055144		tolerated(0.17)	1	EDC4_HUMAN	EDC4	HGNC	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)			28	4067	+		Ovarian(137;0.0563)	UPI0000141377	1301					SNV	EDC4,missense_variant,p.Asp1301Asn,ENST00000358933,NM_014329.4;EDC4,missense_variant,p.Asp84Asn,ENST00000575033,;EDC4,missense_variant,p.Asp54Asn,ENST00000573985,;EDC4,intron_variant,,ENST00000577105,;NRN1L,upstream_gene_variant,,ENST00000339176,NM_198443.1;NRN1L,upstream_gene_variant,,ENST00000576147,;NRN1L,upstream_gene_variant,,ENST00000576758,;CTC-479C5.10,non_coding_transcript_exon_variant,,ENST00000572067,;EDC4,downstream_gene_variant,,ENST00000574770,;EDC4,non_coding_transcript_exon_variant,,ENST00000572221,;EDC4,non_coding_transcript_exon_variant,,ENST00000573992,;EDC4,downstream_gene_variant,,ENST00000536072,;EDC4,downstream_gene_variant,,ENST00000575514,;EDC4,downstream_gene_variant,,ENST00000577028,;EDC4,downstream_gene_variant,,ENST00000576972,;EDC4,downstream_gene_variant,,ENST00000572031,;EDC4,downstream_gene_variant,,ENST00000575507,;EDC4,downstream_gene_variant,,ENST00000572724,;	uc002eur.2	c.3901G>A	4140/4800	2	2			c.3901G>A						16	SNP	c.(3901-3903)GAC>AAC	21	21			ovary(2)|central_nervous_system(2)	4	Broad	autoantigen RCD8			67917522		0.547	ENSG00000038358	4823	g.chr16:67917522G>A	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding							77.86698	KEEP	22	20	-1	81	116	22	20	-1	99.343573	81	116	0.182222	1	0	0	0	0	1	0	0	0	--	--		0	A	OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	EDC4_uc010cer.2_Missense_Mutation_p.D920N|EDC4_uc002eus.2_Missense_Mutation_p.D1031N|EDC4_uc002eut.1_3'UTR|NRN1L_uc002euu.2_5'Flank	114	GBM-06-6700-TP	p.D1301N	G	TGAAACTGTGGACCCAGCCCA	NM_014329	NP_055144	67917522	Q6P2E9	EDC4_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	28	4067	+	A	A		Ovarian(137;0.0563)	Missense_Mutation	1301						
EDC4	0	broad.mit.edu	GRCh37	16	67914753	67914753	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-32-4210-01	TCGA-32-4210-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358933.5:c.2391A>G	p.Gly797=	p.G797=	ENST00000358933	NM_014329.4	797	ggA/ggG	0			1			G	G	uc002eur.2	protein_coding	YES	CCDS10849.1			2391/4206									ovary(2)|central_nervous_system(2)	4	c.(2389-2391)GGA>GGG			hmmpanther:PTHR15598,Low_complexity_(Seg):seg	autoantigen RCD8				ENSP00000351811		18/29									COSM3402433	18/29	.		ENST00000358933	Transcript			exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	ENSG00000038358	g.chr16:67914753A>G	17157			LOW								--	--	1																																		EDC4_uc010cer.2_Silent_p.G416G|EDC4_uc002eus.2_Silent_p.G527G|EDC4_uc002eut.1_5'Flank	1	1			p.G797G	NM_014329	NP_055144			1	EDC4_HUMAN	EDC4	HGNC	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)			18	2557	+		Ovarian(137;0.0563)	UPI0000141377	797					SNV	EDC4,synonymous_variant,p.=,ENST00000358933,NM_014329.4;NRN1L,upstream_gene_variant,,ENST00000339176,NM_198443.1;NRN1L,upstream_gene_variant,,ENST00000576147,;EDC4,upstream_gene_variant,,ENST00000577105,;EDC4,upstream_gene_variant,,ENST00000575033,;EDC4,upstream_gene_variant,,ENST00000573985,;NRN1L,upstream_gene_variant,,ENST00000576758,;CTC-479C5.10,upstream_gene_variant,,ENST00000572067,;AC040162.1,downstream_gene_variant,,ENST00000408599,;EDC4,downstream_gene_variant,,ENST00000574770,;EDC4,non_coding_transcript_exon_variant,,ENST00000572221,;EDC4,non_coding_transcript_exon_variant,,ENST00000573992,;EDC4,non_coding_transcript_exon_variant,,ENST00000576972,;EDC4,non_coding_transcript_exon_variant,,ENST00000577028,;EDC4,non_coding_transcript_exon_variant,,ENST00000572724,;EDC4,downstream_gene_variant,,ENST00000536072,;EDC4,upstream_gene_variant,,ENST00000575514,;EDC4,downstream_gene_variant,,ENST00000572031,;EDC4,upstream_gene_variant,,ENST00000575507,;	uc002eur.2	c.2391A>G	2630/4800	3	3			c.2391A>G						16	SNP	c.(2389-2391)GGA>GGG	7	7			ovary(2)|central_nervous_system(2)	4	Broad	autoantigen RCD8			67914753		0.672	ENSG00000038358	4823	g.chr16:67914753A>G	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding							-41.116984	KEEP	3	0	-1	99	105	3	0	-1	6.99466	99	105	0.016484	1	0	0	0	0	0	0	1	0	--	--		0	G			EDC4_uc010cer.2_Silent_p.G416G|EDC4_uc002eus.2_Silent_p.G527G|EDC4_uc002eut.1_5'Flank	245	GBM-32-4210-TP	p.G797G	A	GGCTTGATGGAGGCCCTGGGG	NM_014329	NP_055144	67914753	Q6P2E9	EDC4_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	18	2557	+	G	G		Ovarian(137;0.0563)	Silent	797						
EDEM1	9695	broad.mit.edu	GRCh37	3	5248941	5248941	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-06-2567-01	TCGA-06-2567-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256497.4:c.1325del	p.Phe442SerfsTer7	p.F442Sfs*7	ENST00000256497	NM_014674.2	441	Ttt/tt	0			1			-	F/X	uc003bqi.2	protein_coding	YES	CCDS33686.1			1321/1974									ovary(2)|breast(1)	3	c.(1321-1323)TTTfs			hmmpanther:PTHR11742,hmmpanther:PTHR11742:SF25,Pfam_domain:PF01532,Gene3D:1.50.10.50,Superfamily_domains:SSF48225,Prints_domain:PR00747	ER degradation enhancer, mannosidase alpha-like				ENSP00000256497		12-Jul										12-Jul	.		ENST00000256497	Transcript			ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	ENSG00000134109	g.chr3:5248941delT	18967	4		HIGH								--	--	1																																		EDEM1_uc011asz.1_Frame_Shift_Del_p.F219fs|EDEM1_uc003bqh.2_Frame_Shift_Del_p.F441fs		1			p.F441fs	NM_014674	NP_055489				EDEM1_HUMAN	EDEM1	HGNC	Q92611	EDEM1_HUMAN		Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)			7	1453	+			UPI0000040633	441			Lumenal (Potential).		deletion	EDEM1,frameshift_variant,p.Phe442SerfsTer7,ENST00000256497,NM_014674.2;EDEM1,frameshift_variant,p.Phe247SerfsTer7,ENST00000445686,;EDEM1,3_prime_UTR_variant,,ENST00000434243,;EDEM1,non_coding_transcript_exon_variant,,ENST00000465369,;	uc003bqi.2	c.1321delT	1454/6146	5	5			c.1321delT						3	DEL	c.(1321-1323)TTTfs	26	26			ovary(2)|breast(1)	3	Broad	ER degradation enhancer, mannosidase alpha-like			5248941		0.463	ENSG00000134109	4826	g.chr3:5248941delT	ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding																				0.03	1	1	0	1	0	0	0	0	0	--	--		0	-			EDEM1_uc011asz.1_Frame_Shift_Del_p.F219fs|EDEM1_uc003bqh.2_Frame_Shift_Del_p.F441fs	89	GBM-06-2567-TP	p.F441fs	T	TCTGCAGGCCTTTTTCCCTGG	NM_014674	NP_055489	5248941	Q92611	EDEM1_HUMAN	0		Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)	7	1453	+	-	-			Frame_Shift_Del	441			Lumenal (Potential).			
EDIL3	10085	broad.mit.edu	GRCh37	5	83433171	83433171	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A			TCGA-06-0158-01	TCGA-06-0158-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296591.5:c.357C>T		p.X119_splice	ENST00000296591	NM_005711.4	119	aaC/aaT	0			1			A	N	uc003kio.1	protein_coding	YES	CCDS4062.1			357/1443									skin(2)	2	c.(355-357)AAC>AAT			Superfamily_domains:SSF57196,Superfamily_domains:SSF57196,SMART_domains:SM00179,Gene3D:2.10.25.10,PROSITE_patterns:PS01187,hmmpanther:PTHR10127:SF29,hmmpanther:PTHR10127,PROSITE_profiles:PS50026	EGF-like repeats and discoidin I-like				ENSP00000296591		11-May									COSM2150115	11-May	.		ENST00000296591	Transcript			cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	ENSG00000164176	g.chr5:83433171G>A	3173			LOW								--	--	1																																		EDIL3_uc003kip.1_Silent_p.N109N	1	1			p.N119N	NM_005711	NP_005702			1	EDIL3_HUMAN	EDIL3	HGNC	O43854	EDIL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)			5	776	-		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)	UPI000004D126	119			EGF-like 3.		SNV	EDIL3,splice_region_variant,p.=,ENST00000296591,NM_005711.4;EDIL3,splice_region_variant,p.=,ENST00000380138,NM_001278642.1;EDIL3,splice_region_variant,,ENST00000507663,;	uc003kio.1	c.357C>T	776/4727	1	1			c.357C>T						5	SNP	c.(355-357)AAC>AAT	49	49			skin(2)	2	Broad	EGF-like repeats and discoidin I-like			83433171		0.338	ENSG00000164176	4830	g.chr5:83433171G>A	cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding							201.359301	KEEP	37	40	-1	74	65	37	40	-1	205.179598	74	65	0.353234	1	0	0	0	0	0	0	1	0	--	--		0	A			EDIL3_uc003kip.1_Silent_p.N109N	29	GBM-06-0158-TP	p.N119N	G	ATTCATTTATGTCTAAGAAAA	NM_005711	NP_005702	83433171	O43854	EDIL3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)	5	776	-	A	A		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)	Silent	119			EGF-like 3.			
EDIL3	10085		GRCh37	5	83402578	83402578	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000296591.5:c.540C>A	p.His180Gln	p.H180Q	ENST00000296591	NM_005711.4	180	caC/caA	0																																																																																																																																																																																																																																												
EEF1A1	1915	broad.mit.edu	GRCh37	6	74227627	74227627	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316292.9:c.1295C>T	p.Thr432Ile	p.T432I	ENST00000316292	NM_001402.5	432	aCa/aTa	0			1			A	T/I	uc003phi.2	protein_coding		CCDS4980.1			1295/1389										0	c.(1294-1296)ACA>ATA			HAMAP:MF_00118_A,hmmpanther:PTHR23115:SF104,hmmpanther:PTHR23115,Gene3D:2.40.30.10,Pfam_domain:PF03143,TIGRFAM_domain:TIGR00483,Superfamily_domains:SSF50465	eukaryotic translation elongation factor 1 alpha				ENSP00000339053		8-Aug									COSM2151856	8-Aug	.		ENST00000309268	Transcript				cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	ENSG00000156508	g.chr6:74227627G>A	3189			MODERATE		4.375	high	getma.org/?cm=msa&ty=f&p=EF1A3_HUMAN&rb=333&re=442&var=T432I	getma.org/pdb.php?prot=EF1A3_HUMAN&from=333&to=442&var=T432I	getma.org/?cm=var&var=hg19,6,74227627,G,A&fts=all	T432I	--	--	1																																OREG0003893	type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	EEF1A1_uc003phd.2_Missense_Mutation_p.T157I|EEF1A1_uc003phe.2_Missense_Mutation_p.T422I|EEF1A1_uc003phf.2_Missense_Mutation_p.T425I|EEF1A1_uc003phg.2_3'UTR|EEF1A1_uc003phh.2_Missense_Mutation_p.T278I|EEF1A1_uc003phj.2_Missense_Mutation_p.T432I|EEF1A1_uc003phk.2_Missense_Mutation_p.T432I|EEF1A1_uc003phl.2_Intron|EEF1A1_uc003phm.1_Intron	1			possibly_damaging(0.58)	p.T432I	NM_001402	NP_001393		deleterious_low_confidence(0.03)	1	EF1A1_HUMAN	EEF1A1	HGNC	P68104	EF1A1_HUMAN			Q96EB3_HUMAN,Q96C29_HUMAN,Q8IUB0_HUMAN,Q6P4C9_HUMAN,Q6IQ15_HUMAN,Q6IPS9_HUMAN,Q5JR01_HUMAN,Q504Z0_HUMAN,Q2F837_HUMAN,A6PW80_HUMAN		7	1332	-			UPI00000012CA	432					SNV	EEF1A1,missense_variant,p.Thr432Ile,ENST00000316292,NM_001402.5;EEF1A1,missense_variant,p.Thr432Ile,ENST00000309268,;EEF1A1,missense_variant,p.Thr432Ile,ENST00000331523,;EEF1A1,downstream_gene_variant,,ENST00000455918,;EEF1A1,downstream_gene_variant,,ENST00000356303,;EEF1A1,intron_variant,,ENST00000491404,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000490569,;EEF1A1,downstream_gene_variant,,ENST00000495333,;EEF1A1,downstream_gene_variant,,ENST00000488500,;	uc003phi.2	c.1295C>T	1914/2303	1	1			c.1295C>T						6	SNP	c.(1294-1296)ACA>ATA	50	50				0	Broad	eukaryotic translation elongation factor 1 alpha			74227627		0.403	ENSG00000156508	4838	g.chr6:74227627G>A		cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity							60.359153	KEEP	20	15	-1	51	42	20	15	-1	64.137156	51	42	0.27907	1	0	0	0	0	1	0	0	0	--	--		0	A	OREG0003893	type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	EEF1A1_uc003phd.2_Missense_Mutation_p.T157I|EEF1A1_uc003phe.2_Missense_Mutation_p.T422I|EEF1A1_uc003phf.2_Missense_Mutation_p.T425I|EEF1A1_uc003phg.2_3'UTR|EEF1A1_uc003phh.2_Missense_Mutation_p.T278I|EEF1A1_uc003phj.2_Missense_Mutation_p.T432I|EEF1A1_uc003phk.2_Missense_Mutation_p.T432I|EEF1A1_uc003phl.2_Intron|EEF1A1_uc003phm.1_Intron	68	GBM-06-0747-TP	p.T432I	G	CACCGCAACTGTCTGTCTCAT	NM_001402	NP_001393	74227627	P68104	EF1A1_HUMAN	0			7	1332	-	A	A			Missense_Mutation	432						
EEF1A1	0	broad.mit.edu	GRCh37	6	74229196	74229196	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-14-0786-01	TCGA-14-0786-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309268.6:c.188T>G	p.Leu63Arg	p.L63R	ENST00000309268		63	cTg/cGg	0			1			C	L/R	uc003phi.2	protein_coding		CCDS4980.1			188/1389										0	c.(187-189)CTG>CGG			HAMAP:MF_00118_A,hmmpanther:PTHR23115:SF104,hmmpanther:PTHR23115,PROSITE_patterns:PS00301,TIGRFAM_domain:TIGR00483,Gene3D:3.40.50.300,Pfam_domain:PF00009,Superfamily_domains:SSF52540	eukaryotic translation elongation factor 1 alpha				ENSP00000339053		8-Mar									COSM3411275	8-Mar	.		ENST00000309268	Transcript				cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	ENSG00000156508	g.chr6:74229196A>C	3189			MODERATE		3.055	medium	getma.org/?cm=msa&ty=f&p=EF1A3_HUMAN&rb=5&re=238&var=L63R	getma.org/pdb.php?prot=EF1A3_HUMAN&from=5&to=238&var=L63R	getma.org/?cm=var&var=hg19,6,74229196,A,C&fts=all	L63R	--	--	1																																OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	EEF1A1_uc003phd.2_5'Flank|EEF1A1_uc003phe.2_Missense_Mutation_p.L63R|EEF1A1_uc003phf.2_Missense_Mutation_p.L63R|EEF1A1_uc003phg.2_Missense_Mutation_p.L63R|EEF1A1_uc003phh.2_Intron|EEF1A1_uc003phj.2_Missense_Mutation_p.L63R|EEF1A1_uc003phk.2_Missense_Mutation_p.L63R|EEF1A1_uc003phl.2_Missense_Mutation_p.L63R|EEF1A1_uc003phm.1_Intron	1			probably_damaging(1)	p.L63R	NM_001402	NP_001393		deleterious_low_confidence(0.01)	1	EF1A1_HUMAN	EEF1A1	HGNC	P68104	EF1A1_HUMAN			Q96EB3_HUMAN,Q96C29_HUMAN,Q8IUB0_HUMAN,Q6P4C9_HUMAN,Q6IQ15_HUMAN,Q6IPS9_HUMAN,Q5JR01_HUMAN,Q504Z0_HUMAN,Q2F837_HUMAN,A6PW80_HUMAN		2	225	-			UPI00000012CA	63					SNV	EEF1A1,missense_variant,p.Leu63Arg,ENST00000316292,NM_001402.5;EEF1A1,missense_variant,p.Leu63Arg,ENST00000309268,;EEF1A1,missense_variant,p.Leu63Arg,ENST00000331523,;EEF1A1,missense_variant,p.Leu63Arg,ENST00000455918,;EEF1A1,missense_variant,p.Leu63Arg,ENST00000356303,;RP11-505P4.7,upstream_gene_variant,,ENST00000429386,;RP11-505P4.7,upstream_gene_variant,,ENST00000431108,;EEF1A1,upstream_gene_variant,,ENST00000491404,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000490569,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000495333,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000488500,;	uc003phi.2	c.188T>G	807/2303	3	3			c.188T>G						6	SNP	c.(187-189)CTG>CGG	49	49				0	Broad	eukaryotic translation elongation factor 1 alpha			74229196		0.428	ENSG00000156508	4838	g.chr6:74229196A>C		cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity							264.342567	KEEP	34	62	-1	73	82	34	62	-1	266.083801	73	82	0.403756	1	0	0	0	0	1	0	0	0	--	--		0	C	OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	EEF1A1_uc003phd.2_5'Flank|EEF1A1_uc003phe.2_Missense_Mutation_p.L63R|EEF1A1_uc003phf.2_Missense_Mutation_p.L63R|EEF1A1_uc003phg.2_Missense_Mutation_p.L63R|EEF1A1_uc003phh.2_Intron|EEF1A1_uc003phj.2_Missense_Mutation_p.L63R|EEF1A1_uc003phk.2_Missense_Mutation_p.L63R|EEF1A1_uc003phl.2_Missense_Mutation_p.L63R|EEF1A1_uc003phm.1_Intron	134	GBM-14-0786-TP	p.L63R	A	CTCAGCTTTCAGTTTATCCAA	NM_001402	NP_001393	74229196	P68104	EF1A1_HUMAN	0			2	225	-	C	C			Missense_Mutation	63						
EEF1A1	0	broad.mit.edu	GRCh37	6	74228304	74228304	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01	TCGA-32-1982-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309268.6:c.802G>A	p.Glu268Lys	p.E268K	ENST00000309268		268	Gag/Aag	0			1			T	E/K	uc003phi.2	protein_coding		CCDS4980.1			802/1389										0	c.(802-804)GAG>AAG			HAMAP:MF_00118_A,hmmpanther:PTHR23115:SF104,hmmpanther:PTHR23115,Gene3D:2.40.30.10,TIGRFAM_domain:TIGR00483,Pfam_domain:PF03144,Superfamily_domains:SSF50447	eukaryotic translation elongation factor 1 alpha				ENSP00000339053		8-Jun									COSM3411273	8-Jun	.		ENST00000309268	Transcript				cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	ENSG00000156508	g.chr6:74228304C>T	3189			MODERATE		3.745	high	getma.org/?cm=msa&ty=f&p=EF1A3_HUMAN&rb=260&re=327&var=E268K	getma.org/pdb.php?prot=EF1A3_HUMAN&from=260&to=327&var=E268K	getma.org/?cm=var&var=hg19,6,74228304,C,T&fts=all	E268K	--	--	1																																OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	EEF1A1_uc003phd.2_5'UTR|EEF1A1_uc003phe.2_Missense_Mutation_p.E258K|EEF1A1_uc003phf.2_Missense_Mutation_p.E268K|EEF1A1_uc003phg.2_Missense_Mutation_p.E268K|EEF1A1_uc003phh.2_Missense_Mutation_p.E114K|EEF1A1_uc003phj.2_Missense_Mutation_p.E268K|EEF1A1_uc003phk.2_Missense_Mutation_p.E268K|EEF1A1_uc003phl.2_Intron|EEF1A1_uc003phm.1_Intron	1			probably_damaging(0.999)	p.E268K	NM_001402	NP_001393		deleterious_low_confidence(0.01)	1	EF1A1_HUMAN	EEF1A1	HGNC	P68104	EF1A1_HUMAN			Q96EB3_HUMAN,Q96C29_HUMAN,Q8IUB0_HUMAN,Q6P4C9_HUMAN,Q6IQ15_HUMAN,Q6IPS9_HUMAN,Q5JR01_HUMAN,Q504Z0_HUMAN,Q2F837_HUMAN,A6PW80_HUMAN		5	839	-			UPI00000012CA	268					SNV	EEF1A1,missense_variant,p.Glu268Lys,ENST00000316292,NM_001402.5;EEF1A1,missense_variant,p.Glu268Lys,ENST00000309268,;EEF1A1,missense_variant,p.Glu268Lys,ENST00000331523,;EEF1A1,downstream_gene_variant,,ENST00000455918,;EEF1A1,downstream_gene_variant,,ENST00000356303,;EEF1A1,intron_variant,,ENST00000491404,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000490569,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000495333,;EEF1A1,downstream_gene_variant,,ENST00000488500,;	uc003phi.2	c.802G>A	1421/2303	2	2			c.802G>A						6	SNP	c.(802-804)GAG>AAG	32	32				0	Broad	eukaryotic translation elongation factor 1 alpha			74228304		0.418	ENSG00000156508	4838	g.chr6:74228304C>T		cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity							76.561674	KEEP	18	15	-1	57	59	18	15	-1	82.378795	57	59	0.263158	1	0	0	0	0	1	0	0	0	--	--		0	T	OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	EEF1A1_uc003phd.2_5'UTR|EEF1A1_uc003phe.2_Missense_Mutation_p.E258K|EEF1A1_uc003phf.2_Missense_Mutation_p.E268K|EEF1A1_uc003phg.2_Missense_Mutation_p.E268K|EEF1A1_uc003phh.2_Missense_Mutation_p.E114K|EEF1A1_uc003phj.2_Missense_Mutation_p.E268K|EEF1A1_uc003phk.2_Missense_Mutation_p.E268K|EEF1A1_uc003phl.2_Intron|EEF1A1_uc003phm.1_Intron	232	GBM-32-1982-TP	p.E268K	C	ACACCAGTCTCCACTCGGCCA	NM_001402	NP_001393	74228304	P68104	EF1A1_HUMAN	0			5	839	-	T	T			Missense_Mutation	268						
EEF2	1938	broad.mit.edu	GRCh37	19	3980665	3980665	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-02-2485-01	TCGA-02-2485-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309311.6:c.1193T>G	p.Ile398Ser	p.I398S	ENST00000309311	NM_001961.3	398	aTt/aGt	0			1			C	I/S	uc002lze.2	protein_coding	YES	CCDS12117.1			1193/2577										0	c.(1192-1194)ATT>AGT			hmmpanther:PTHR23115:SF103,hmmpanther:PTHR23115,Gene3D:2.40.30.10,Superfamily_domains:SSF50447	eukaryotic translation elongation factor 2				ENSP00000307940		15-Sep									COSM3404214	15-Sep	.		ENST00000309311	Transcript	1			cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	ENSG00000167658	g.chr19:3980665A>C	3214			MODERATE		3.46	medium	getma.org/?cm=msa&ty=f&p=EF2_HUMAN&rb=361&re=408&var=I398S	getma.org/pdb.php?prot=EF2_HUMAN&from=361&to=408&var=I398S	getma.org/?cm=var&var=hg19,19,3980665,A,C&fts=all	I398S	--	--	1																																			1	1		possibly_damaging(0.701)	p.I398S	NM_001961	NP_001952		deleterious(0)	1	EF2_HUMAN	EEF2	HGNC	P13639	EF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	Q8TA90_HUMAN,B4DMC6_HUMAN		9	1276	-		Hepatocellular(1079;0.137)	UPI00001649F3	398					SNV	EEF2,missense_variant,p.Ile398Ser,ENST00000309311,NM_001961.3;EEF2,upstream_gene_variant,,ENST00000600794,;SNORD37,downstream_gene_variant,,ENST00000384048,NR_002602.1;EEF2,downstream_gene_variant,,ENST00000600720,;EEF2,downstream_gene_variant,,ENST00000598182,;EEF2,downstream_gene_variant,,ENST00000594885,;EEF2,downstream_gene_variant,,ENST00000598436,;EEF2,upstream_gene_variant,,ENST00000596417,;	uc002lze.2	c.1193T>G	1282/3164	3	3			c.1193T>G						19	SNP	c.(1192-1194)ATT>AGT	1	1				0	Broad	eukaryotic translation elongation factor 2			3980665		0.527	ENSG00000167658	4844	g.chr19:3980665A>C		cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	Colon(165;1804 1908 4071 6587 18799)			Colon(165;1804 1908 4071 6587 18799)			123.38137	KEEP	19	22	-1	48	56	19	22	-1	128.718991	48	56	0.287879	1	0	0	0	0	1	0	0	0	--	--		0	C				7	GBM-02-2485-TP	p.I398S	A	CATTTTGGAAATATACATCAT	NM_001961	NP_001952	3980665	P13639	EF2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1276	-	C	C		Hepatocellular(1079;0.137)	Missense_Mutation	398						
EEFSEC	60678		GRCh37	3	127981028	127981028	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000254730.6:c.582C>T	p.Pro194=	p.P194=	ENST00000254730	NM_021937.3	194	ccC/ccT	0																																																																																																																																																																																																																																												
CLXN	0	broad.mit.edu	GRCh37	8	49643175	49643175	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-19-2623-01	TCGA-19-2623-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262103.3:c.243T>C	p.Asp81=	p.D81=	ENST00000262103	NM_024593.3	81	gaT/gaC	0			1			G	D	uc003xqo.2	protein_coding	YES	CCDS6145.1			243/636										0	c.(241-243)GAT>GAC			PROSITE_profiles:PS50222,hmmpanther:PTHR23055,hmmpanther:PTHR23055:SF75,PROSITE_patterns:PS00018,Pfam_domain:PF13405,Gene3D:1.10.238.10,SMART_domains:SM00054,Superfamily_domains:SSF47473,Prints_domain:PR00450	EF-hand calcium binding domain 1 isoform a				ENSP00000262103		6-Mar									COSM3413046	6-Mar	.		ENST00000262103	Transcript					calcium ion binding	ENSG00000034239	g.chr8:49643175A>G	25678			LOW								--	--	1																																		EFCAB1_uc003xqn.3_Intron|EFCAB1_uc011ldj.1_Silent_p.D29D|EFCAB1_uc010lxx.2_RNA|EFCAB1_uc011ldk.1_RNA	1	1			p.D81D	NM_024593	NP_078869			1	EFCB1_HUMAN	EFCAB1	HGNC	Q9HAE3	EFCB1_HUMAN					3	403	-		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)	UPI000006E520	81			EF-hand 1.|1 (Potential).		SNV	EFCAB1,synonymous_variant,p.=,ENST00000433756,NM_001142857.1;EFCAB1,synonymous_variant,p.=,ENST00000262103,NM_024593.3;EFCAB1,synonymous_variant,p.=,ENST00000523092,;EFCAB1,upstream_gene_variant,,ENST00000522254,;EFCAB1,upstream_gene_variant,,ENST00000523008,;EFCAB1,non_coding_transcript_exon_variant,,ENST00000521721,;EFCAB1,intron_variant,,ENST00000521002,;EFCAB1,synonymous_variant,p.=,ENST00000521701,;EFCAB1,upstream_gene_variant,,ENST00000519425,;	uc003xqo.2	c.243T>C	324/2051	4	4			c.243T>C						8	SNP	c.(241-243)GAT>GAC	21	21				0	Broad	EF-hand calcium binding domain 1 isoform a			49643175		0.368	ENSG00000034239	4848	g.chr8:49643175A>G			calcium ion binding							91.718754	KEEP	15	14	-1	17	21	15	14	-1	91.893485	17	21	0.442623	1	0	0	0	0	0	0	1	0	--	--		0	G			EFCAB1_uc003xqn.3_Intron|EFCAB1_uc011ldj.1_Silent_p.D29D|EFCAB1_uc010lxx.2_RNA|EFCAB1_uc011ldk.1_RNA	163	GBM-19-2623-TP	p.D81D	A	TTACACAGCCATCATTATCTT	NM_024593	NP_078869	49643175	Q9HAE3	EFCB1_HUMAN	0			3	403	-	G	G		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)	Silent	81			EF-hand 1.|1 (Potential).			
EFCAB13	0	broad.mit.edu	GRCh37	17	45490276	45490276	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6700-01	TCGA-06-6700-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331493.2:c.2416G>A	p.Val806Ile	p.V806I	ENST00000331493	NM_152347.4	806	Gtc/Atc	0			1			A	V/I	uc002iln.2	protein_coding	YES	CCDS11512.1			2416/2922									breast(1)|central_nervous_system(1)|skin(1)	3	c.(2416-2418)GTC>ATC			Gene3D:1.10.238.10,hmmpanther:PTHR22656,Superfamily_domains:SSF47473	hypothetical protein LOC124989				ENSP00000332111		22/25	5.77E-05		0.000174			7.52E-05			rs772524172,COSM3402961	22/25	.		ENST00000331493	Transcript					calcium ion binding	ENSG00000178852	g.chr17:45490276G>A	26864			MODERATE		-1.01	neutral	getma.org/?cm=msa&ty=f&p=CQ057_HUMAN&rb=751&re=818&var=V806I	getma.org/pdb.php?prot=CQ057_HUMAN&from=751&to=818&var=V806I	getma.org/?cm=var&var=hg19,17,45490276,G,A&fts=all	V806I	--	--	1																																		C17orf57_uc002ilm.2_Missense_Mutation_p.V710I	0,1	1		benign(0.001)	p.V806I	NM_152347	NP_689560		tolerated(1)	0,1	EFC13_HUMAN	EFCAB13	HGNC	Q8IY85	CQ057_HUMAN			E5RI18_HUMAN,E5RFW6_HUMAN		22	2827	+			UPI00001AFEA2	806			EF-hand 5.		SNV	EFCAB13,missense_variant,p.Val806Ile,ENST00000331493,NM_152347.4;EFCAB13,missense_variant,p.Val710Ile,ENST00000517484,NM_001195192.1;EFCAB13,intron_variant,,ENST00000523842,;CTD-2026D20.2,intron_variant,,ENST00000523101,;	uc002iln.2	c.2416G>A	2827/3931	2	2			c.2416G>A						17	SNP	c.(2416-2418)GTC>ATC	35	35			breast(1)|central_nervous_system(1)|skin(1)	3	Broad	hypothetical protein LOC124989			45490276		0.353	ENSG00000178852	1823	g.chr17:45490276G>A			calcium ion binding							11.319419	KEEP	7	7	-1	43	39	7	7	-1	22.190906	43	39	0.118421	1	0	0	0	0	1	0	0	0	--	--		0	A			C17orf57_uc002ilm.2_Missense_Mutation_p.V710I	114	GBM-06-6700-TP	p.V806I	G	CTGTTGTAACGTCAGTGGTGA	NM_152347	NP_689560	45490276	Q8IY85	CQ057_HUMAN	0			22	2827	+	A	A			Missense_Mutation	806			EF-hand 5.			
EFCAB4B	0	broad.mit.edu	GRCh37	12	3788105	3788105	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-5856-01	TCGA-06-5856-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000440314.2:c.500T>C	p.Leu167Pro	p.L167P	ENST00000440314	NM_001144958.1	167	cTt/cCt	0			1			G	L/P	uc001qmj.2	protein_coding		CCDS8522.1			500/1188									ovary(1)|pancreas(1)	2	c.(499-501)CTT>CCT			hmmpanther:PTHR22621,hmmpanther:PTHR22621:SF2	EF-hand calcium binding domain 4B isoform c				ENSP00000252322		11-Jun									COSM3747919,COSM3747918,COSM3747920	11-Jun	.		ENST00000252322	Transcript			activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding	ENSG00000130038	g.chr12:3788105A>G	28657			MODERATE		2.74	medium	getma.org/?cm=msa&ty=f&p=EFC4B_HUMAN&rb=117&re=216&var=L167P	NA	getma.org/?cm=var&var=hg19,12,3788105,A,G&fts=all	L167P	--	--	1																																		EFCAB4B_uc010sen.1_Missense_Mutation_p.L167P|EFCAB4B_uc010seo.1_Missense_Mutation_p.L167P	1,1,1			probably_damaging(0.996)	p.L167P	NM_032680	NP_116069		deleterious(0)	1,1,1	EFC4B_HUMAN	EFCAB4B	HGNC	Q9BSW2	EFC4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)				6	1072	-			UPI000006F61E	167					SNV	EFCAB4B,missense_variant,p.Leu167Pro,ENST00000440314,NM_001144958.1;EFCAB4B,missense_variant,p.Leu167Pro,ENST00000444507,;EFCAB4B,missense_variant,p.Leu167Pro,ENST00000252322,NM_032680.3;	uc001qmj.2	c.500T>C	969/2186	3	3			c.500T>C						12	SNP	c.(499-501)CTT>CCT	8	8			ovary(1)|pancreas(1)	2	Broad	EF-hand calcium binding domain 4B isoform c			3788105		0.517	ENSG00000130038	4852	g.chr12:3788105A>G	activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding							-106.722521	KEEP	17	11	-1	338	405	17	11	-1	49.236805	338	405	0.032209	1	0	0	0	0	1	0	0	0	--	--		0	G			EFCAB4B_uc010sen.1_Missense_Mutation_p.L167P|EFCAB4B_uc010seo.1_Missense_Mutation_p.L167P	101	GBM-06-5856-TP	p.L167P	A	TTGGGCTCCAAGTCTGTCCAT	NM_032680	NP_116069	3788105	Q9BSW2	EFC4B_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)		6	1072	-	G	G			Missense_Mutation	167						
EFCAB5	374786	broad.mit.edu	GRCh37	17	28434861	28434861	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394835.3:c.4331G>A	p.Arg1444Gln	p.R1444Q	ENST00000394835	NM_198529.3	1444	cGa/cAa	0			1			A	R/Q	uc002het.2	protein_coding	YES	CCDS11254.2			4331/4512									ovary(1)|skin(1)	2	c.(4330-4332)CGA>CAA			hmmpanther:PTHR31938,hmmpanther:PTHR31938:SF3	EF-hand calcium binding domain 5 isoform a				ENSP00000378312		23/23	4.97E-05	0.000108			0.000618			6.52E-05	rs752214047,COSM3402714	23/23	common_variant		ENST00000394835	Transcript					calcium ion binding	ENSG00000176927	g.chr17:28434861G>A	24801			MODERATE		1.465	low	getma.org/?cm=msa&ty=f&p=EFCB5_HUMAN&rb=1&re=1501&var=R1444Q	NA	getma.org/?cm=var&var=hg19,17,28434861,G,A&fts=all	R1444Q	--	--	1																																		EFCAB5_uc010cse.2_Missense_Mutation_p.R1199Q|EFCAB5_uc010csf.2_Missense_Mutation_p.R795Q	0,1	1		probably_damaging(0.966)	p.R1444Q	NM_198529	NP_940931		tolerated(0.07)	0,1	EFCB5_HUMAN	EFCAB5	HGNC	A4FU69	EFCB5_HUMAN			C9J1E6_HUMAN		23	4523	+			UPI0000E59EF5	1444					SNV	EFCAB5,missense_variant,p.Arg1444Gln,ENST00000394835,NM_198529.3;EFCAB5,missense_variant,p.Arg1320Gln,ENST00000320856,;EFCAB5,missense_variant,p.Arg1126Gln,ENST00000419434,;EFCAB5,missense_variant,p.Arg916Gln,ENST00000394832,;EFCAB5,missense_variant,p.Arg715Gln,ENST00000588978,;RP11-1148O4.2,intron_variant,,ENST00000582938,;	uc002het.2	c.4331G>A	4523/5132	2	2			c.4331G>A						17	SNP	c.(4330-4332)CGA>CAA	35	35			ovary(1)|skin(1)	2	Broad	EF-hand calcium binding domain 5 isoform a			28434861		0.308	ENSG00000176927	4853	g.chr17:28434861G>A			calcium ion binding							-6.120605	KEEP	2	1	-1	19	38	2	1	-1	6.484233	19	38	0.050847	1	0	0	0	0	1	0	0	0	--	--		0	A			EFCAB5_uc010cse.2_Missense_Mutation_p.R1199Q|EFCAB5_uc010csf.2_Missense_Mutation_p.R795Q	73	GBM-06-0877-TP	p.R1444Q	G	GATCATTCCCGAACTGAAGTA	NM_198529	NP_940931	28434861	A4FU69	EFCB5_HUMAN	0			23	4523	+	A	A			Missense_Mutation	1444						
EFCAB6	64800		GRCh37	22	44083357	44083357	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000262726.7:c.1136G>A	p.Arg379Lys	p.R379K	ENST00000262726	NM_022785.3	379	aGa/aAa	0																																																																																																																																																																																																																																												
EFCC1	0	broad.mit.edu	GRCh37	3	128757682	128757682	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0688-01	TCGA-12-0688-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000436022.2:c.288G>A	p.Ser96=	p.S96=	ENST00000436022	NM_024768.2	96	tcG/tcA	0		A:0	1	A:0		A	S	uc011bkt.1	protein_coding					288/486										0	c.(1597-1599)TCG>TCA				coiled-coil domain containing 48		A:0.001		ENSP00000414597	A:0	8-Jul	8.24E-06					1.50E-05			rs575259155,COSM2153947,COSM2153946	8-Jul	.		ENST00000436022	Transcript		A:0.0002				ENSG00000114654	g.chr3:128757682G>A	25692			LOW								--	--	1																																			0,1,1				p.S533S	NM_024768	NP_079044	A:0		0,1,1	EFCC1_HUMAN	EFCC1	HGNC	Q9HA90	CCD48_HUMAN					7	1599	+			UPI00000707F7	533			Potential.		SNV	EFCC1,synonymous_variant,p.=,ENST00000436022,NM_024768.2;EFCC1,synonymous_variant,p.=,ENST00000480450,;EFCC1,non_coding_transcript_exon_variant,,ENST00000481536,;	uc011bkt.1	c.1599G>A	1599/2691	2	2			c.1599G>A						3	SNP	c.(1597-1599)TCG>TCA	33	33				0	Broad	coiled-coil domain containing 48			128757682		0.552	ENSG00000114654	2768	g.chr3:128757682G>A										178.201827	KEEP	40	30	-1	85	53	40	30	-1	182.818742	85	53	0.335079	1	0	0	0	0	0	0	1	0	--	--		0	A				121	GBM-12-0688-TP	p.S533S	G	AGAACATATCGAAAAGAGCCC	NM_024768	NP_079044	128757682	Q9HA90	CCD48_HUMAN	0			7	1599	+	A	A			Silent	533			Potential.			
EFHB	0	broad.mit.edu	GRCh37	3	19974766	19974766	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-76-6282-01	TCGA-76-6282-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295824.9:c.745A>T	p.Ile249Leu	p.I249L	ENST00000295824	NM_144715.3	249	Ata/Tta	0			1			A	I/L	uc003cbl.3	protein_coding	YES	CCDS33715.2			745/2502										0	c.(745-747)ATA>TTA			hmmpanther:PTHR12086:SF10,hmmpanther:PTHR12086	EF hand domain family, member B				ENSP00000295824		13-Jan									COSM3408560,COSM3408559	13-Jan	.		ENST00000295824	Transcript			signal transduction	proteinaceous extracellular matrix	calcium ion binding	ENSG00000163576	g.chr3:19974766T>A	26330			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=EFHB_HUMAN&rb=201&re=400&var=I249L	NA	getma.org/?cm=var&var=hg19,3,19974766,T,A&fts=all	I249L	--	--	1																																		EFHB_uc003cbm.2_Missense_Mutation_p.I119L	1,1	1		benign(0.119)	p.I249L	NM_144715	NP_653316		deleterious(0.02)	1,1	EFHB_HUMAN	EFHB	HGNC	Q8N7U6	EFHB_HUMAN					1	941	-			UPI0000209A4C	249					SNV	EFHB,missense_variant,p.Ile249Leu,ENST00000295824,NM_144715.3;EFHB,missense_variant,p.Ile119Leu,ENST00000344838,;EFHB,missense_variant,p.Ile249Leu,ENST00000389256,;EFHB,missense_variant,p.Ile7Leu,ENST00000440022,;EFHB,non_coding_transcript_exon_variant,,ENST00000498089,;	uc003cbl.3	c.745A>T	907/2823	1	1			c.745A>T						3	SNP	c.(745-747)ATA>TTA	52	52				0	Broad	EF hand domain family, member B			19974766		0.443	ENSG00000163576	4860	g.chr3:19974766T>A	signal transduction	proteinaceous extracellular matrix	calcium ion binding							33.781618	KEEP	4	8	-1	16	19	4	8	-1	35.993254	16	19	0.266667	1	0	0	0	0	1	0	0	0	--	--		0	A			EFHB_uc003cbm.2_Missense_Mutation_p.I119L	278	GBM-76-6282-TP	p.I249L	T	CCAGAGTATATGGGTCTGATG	NM_144715	NP_653316	19974766	Q8N7U6	EFHB_HUMAN	0			1	941	-	A	A			Missense_Mutation	249						
EFNA3	0	broad.mit.edu	GRCh37	1	155058900	155058900	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-6450-01	TCGA-28-6450-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368408.3:c.598G>A	p.Gly200Arg	p.G200R	ENST00000368408	NM_004952.4	200	Gga/Aga	0			1			A	G/R	uc001fhf.2	protein_coding	YES	CCDS1090.1			598/717										0	c.(598-600)GGA>AGA			hmmpanther:PTHR11304,hmmpanther:PTHR11304:SF5	ephrin A3 precursor				ENSP00000357393		5-May									COSM3399793	5-May	.		ENST00000368408	Transcript			cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	ENSG00000143590	g.chr1:155058900G>A	3223			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=EFNA3_HUMAN&rb=172&re=238&var=G200R	NA	getma.org/?cm=var&var=hg19,1,155058900,G,A&fts=all	G200R	--	--	1																																OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	EFNA3_uc010pew.1_Missense_Mutation_p.G195R|EFNA3_uc010pex.1_Missense_Mutation_p.G174R|EFNA3_uc001fhg.2_Missense_Mutation_p.G177R	1	1		benign(0.004)	p.G200R	NM_004952	NP_004943		deleterious(0.01)	1	EFNA3_HUMAN	EFNA3	HGNC	P52797	EFNA3_HUMAN	all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)				5	668	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		UPI0000129C8F	200					SNV	EFNA3,missense_variant,p.Gly200Arg,ENST00000368408,NM_004952.4;EFNA3,missense_variant,p.Gly195Arg,ENST00000505139,;EFNA3,missense_variant,p.Gly195Arg,ENST00000556931,;EFNA3,missense_variant,p.Gly174Arg,ENST00000418360,;EFNA3,non_coding_transcript_exon_variant,,ENST00000498667,;EFNA3,non_coding_transcript_exon_variant,,ENST00000470294,;	uc001fhf.2	c.598G>A	668/1782	2	2			c.598G>A						1	SNP	c.(598-600)GGA>AGA	26	26				0	Broad	ephrin A3 precursor			155058900		0.632	ENSG00000143590	4867	g.chr1:155058900G>A	cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity							63.301003	KEEP	11	12	-1	14	16	11	12	-1	63.734714	14	16	0.4	1	0	0	0	0	1	0	0	0	--	--		0	A	OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	EFNA3_uc010pew.1_Missense_Mutation_p.G195R|EFNA3_uc010pex.1_Missense_Mutation_p.G174R|EFNA3_uc001fhg.2_Missense_Mutation_p.G177R	227	GBM-28-6450-TP	p.G200R	G	AGACTTTGAGGGAGAGAACCC	NM_004952	NP_004943	155058900	P52797	EFNA3_HUMAN	0	all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)		5	668	+	A	A	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Missense_Mutation	200						
EFNA5	0	broad.mit.edu	GRCh37	5	106763058	106763058	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-27-1836-01	TCGA-27-1836-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333274.6:c.278C>G	p.Thr93Ser	p.T93S	ENST00000333274	NM_001962.2	93	aCt/aGt	0			1			C	T/S	uc003kol.2	protein_coding	YES	CCDS4097.1			278/687										0	c.(277-279)ACT>AGT			Superfamily_domains:SSF49503,Gene3D:2.60.40.420,Pfam_domain:PF00812,hmmpanther:PTHR11304,hmmpanther:PTHR11304:SF33,PROSITE_profiles:PS51551	ephrin-A5 precursor				ENSP00000328777		5-Feb									COSM3409658	5-Feb	.		ENST00000333274	Transcript			cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding	ENSG00000184349	g.chr5:106763058G>C	3225			MODERATE		1.345	low	getma.org/?cm=msa&ty=f&p=EFNA5_HUMAN&rb=26&re=164&var=T93S	getma.org/pdb.php?prot=EFNA5_HUMAN&from=26&to=164&var=T93S	getma.org/?cm=var&var=hg19,5,106763058,G,C&fts=all	T93S	--	--	1																																		EFNA5_uc010jbr.1_Missense_Mutation_p.T93S	1	1		benign(0.023)	p.T93S	NM_001962	NP_001953		tolerated(0.41)	1	EFNA5_HUMAN	EFNA5	HGNC	P52803	EFNA5_HUMAN		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)			2	560	-		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)	UPI0000129C93	93					SNV	EFNA5,missense_variant,p.Thr93Ser,ENST00000333274,NM_001962.2;EFNA5,missense_variant,p.Thr93Ser,ENST00000509503,;EFNA5,non_coding_transcript_exon_variant,,ENST00000505499,;EFNA5,non_coding_transcript_exon_variant,,ENST00000504941,;	uc003kol.2	c.278C>G	560/5335	3	3			c.278C>G						5	SNP	c.(277-279)ACT>AGT	12	12				0	Broad	ephrin-A5 precursor			106763058		0.488	ENSG00000184349	4869	g.chr5:106763058G>C	cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding							245.942461	KEEP	46	36	-1	65	69	46	36	-1	247.993247	65	69	0.390863	1	0	0	0	0	1	0	0	0	--	--		0	C			EFNA5_uc010jbr.1_Missense_Mutation_p.T93S	195	GBM-27-1836-TP	p.T93S	G	CCCTTTGGAAGTGTGGTCGCA	NM_001962	NP_001953	106763058	P52803	EFNA5_HUMAN	0		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)	2	560	-	C	C		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)	Missense_Mutation	93						
EFNB1	0	broad.mit.edu	GRCh37	X	68058542	68058542	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-26-1439-01	TCGA-26-1439-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000204961.4:c.211C>G	p.Arg71Gly	p.R71G	ENST00000204961	NM_004429.4	71	Cgg/Ggg	0			1			G	R/G	uc004dxd.3	protein_coding	YES	CCDS14391.1			211/1041										0	c.(211-213)CGG>GGG			PROSITE_profiles:PS51551,hmmpanther:PTHR11304:SF17,hmmpanther:PTHR11304,Pfam_domain:PF00812,Gene3D:2.60.40.420,Superfamily_domains:SSF49503	ephrin-B1 precursor				ENSP00000204961		5-Feb									COSM3748201	5-Feb	.		ENST00000204961	Transcript	1		cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding	ENSG00000090776	g.chrX:68058542C>G	3226			MODERATE		0.44	neutral	getma.org/?cm=msa&ty=f&p=EFNB1_HUMAN&rb=27&re=166&var=R71G	getma.org/pdb.php?prot=EFNB1_HUMAN&from=27&to=166&var=R71G	getma.org/?cm=var&var=hg19,X,68058542,C,G&fts=all	R71G	--	--	1																																		EFNB1_uc004dxe.2_Missense_Mutation_p.R71G	1	1		possibly_damaging(0.796)	p.R71G	NM_004429	NP_004420		tolerated(0.57)	1	EFNB1_HUMAN	EFNB1	HGNC	P98172	EFNB1_HUMAN					2	991	+			UPI000006222D	71			Extracellular (Potential).		SNV	EFNB1,missense_variant,p.Arg71Gly,ENST00000204961,NM_004429.4;	uc004dxd.3	c.211C>G	991/3314	3	3			c.211C>G						23	SNP	c.(211-213)CGG>GGG	51	51				0	Broad	ephrin-B1 precursor			68058542		0.572	ENSG00000090776	4870	g.chrX:68058542C>G	cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding							2.733638	KEEP	1	2	-1	8	14	1	2	-1	6.444	8	14	0.090909	1	0	0	0	0	1	0	0	0	--	--		0	G			EFNB1_uc004dxe.2_Missense_Mutation_p.R71G	179	GBM-26-1439-TP	p.R71G	C	AGAAGCAGGGCGGCCCTATGA	NM_004429	NP_004420	68058542	P98172	EFNB1_HUMAN	0			2	991	+	G	G			Missense_Mutation	71			Extracellular (Potential).			
EFNB2	1948	broad.mit.edu	GRCh37	13	107187195	107187195	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-2562-01	TCGA-06-2562-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245323.4:c.118T>G	p.Ser40Ala	p.S40A	ENST00000245323	NM_004093.3	40	Tcc/Gcc	0			1			C	S/A	uc001vqi.2	protein_coding	YES	CCDS9507.1			118/1002									ovary(1)	1	c.(118-120)TCC>GCC			Prints_domain:PR01347,Superfamily_domains:SSF49503,Pfam_domain:PF00812,Gene3D:2.60.40.420,hmmpanther:PTHR11304:SF18,hmmpanther:PTHR11304,PROSITE_profiles:PS51551	ephrin B2 precursor				ENSP00000245323		5-Jan									COSM2152810	5-Jan	.		ENST00000245323	Transcript			cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding	ENSG00000125266	g.chr13:107187195A>C	3227			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=EFNB2_HUMAN&rb=25&re=166&var=S40A	getma.org/pdb.php?prot=EFNB2_HUMAN&from=25&to=166&var=S40A	getma.org/?cm=var&var=hg19,13,107187195,A,C&fts=all	S40A	--	--	1																																			1	1		benign(0.001)	p.S40A	NM_004093	NP_004084		tolerated(0.46)	1	EFNB2_HUMAN	EFNB2	HGNC	P52799	EFNB2_HUMAN			Q2PDH7_HUMAN		1	143	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		UPI0000129C9B	40			Extracellular (Potential).		SNV	EFNB2,missense_variant,p.Ser40Ala,ENST00000245323,NM_004093.3;	uc001vqi.2	c.118T>G	268/4461	3	3			c.118T>G						13	SNP	c.(118-120)TCC>GCC	62	62			ovary(1)	1	Broad	ephrin B2 precursor			107187195		0.433	ENSG00000125266	4871	g.chr13:107187195A>C	cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding							36.316174	KEEP	5	7	-1	8	15	5	7	-1	37.126908	8	15	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	C				85	GBM-06-2562-TP	p.S40A	A	ACTTACTTGGAGTTCGAGGAA	NM_004093	NP_004084	107187195	P52799	EFNB2_HUMAN	0			1	143	-	C	C	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		Missense_Mutation	40			Extracellular (Potential).			
EFNB2	0	broad.mit.edu	GRCh37	13	107187289	107187289	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-26-5135-01	TCGA-26-5135-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245323.4:c.24G>T	p.Val8=	p.V8=	ENST00000245323	NM_004093.3	8	gtG/gtT	0			1			A	V	uc001vqi.2	protein_coding	YES	CCDS9507.1			24/1002									ovary(1)	1	c.(22-24)GTG>GTT			hmmpanther:PTHR11304:SF18,hmmpanther:PTHR11304	ephrin B2 precursor				ENSP00000245323		5-Jan									COSM2157099	5-Jan	.		ENST00000245323	Transcript			cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding	ENSG00000125266	g.chr13:107187289C>A	3227			LOW								--	--	1																																			1	1			p.V8V	NM_004093	NP_004084			1	EFNB2_HUMAN	EFNB2	HGNC	P52799	EFNB2_HUMAN			Q2PDH7_HUMAN		1	49	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		UPI0000129C9B	8					SNV	EFNB2,synonymous_variant,p.=,ENST00000245323,NM_004093.3;	uc001vqi.2	c.24G>T	174/4461	2	2			c.24G>T						13	SNP	c.(22-24)GTG>GTT	37	37			ovary(1)	1	Broad	ephrin B2 precursor			107187289		0.542	ENSG00000125266	4871	g.chr13:107187289C>A	cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding							108.904296	KEEP	20	16	0.444444444	33	26	20	16	0.444444444	109.7926	33	26	0.393258	1	0	0	0	0	0	0	1	0	--	--		0	A				184	GBM-26-5135-TP	p.V8V	C	AGTACTTCCACACGGAGTCCC	NM_004093	NP_004084	107187289	P52799	EFNB2_HUMAN	0			1	49	-	A	A	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		Silent	8						
EFNB3	0	broad.mit.edu	GRCh37	17	7612770	7612770	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2528-01	TCGA-27-2528-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000226091.2:c.899G>A	p.Gly300Asp	p.G300D	ENST00000226091	NM_001406.3	300	gGc/gAc	0			1			A	G/D	uc002gis.2	protein_coding	YES	CCDS11120.1			899/1023									ovary(1)	1	c.(898-900)GGC>GAC			hmmpanther:PTHR11304,hmmpanther:PTHR11304:SF34	ephrin-B3 precursor				ENSP00000226091		5-May									COSM3403304	5-May	.		ENST00000226091	Transcript			cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	ENSG00000108947	g.chr17:7612770G>A	3228			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=EFNB3_HUMAN&rb=170&re=340&var=G300D	NA	getma.org/?cm=var&var=hg19,17,7612770,G,A&fts=all	G300D	--	--	1																																			1	1		benign(0.021)	p.G300D	NM_001406	NP_001397		tolerated_low_confidence(0.15)	1	EFNB3_HUMAN	EFNB3	HGNC	Q15768	EFNB3_HUMAN					5	1296	+		all_cancers(10;1.14e-06)|Prostate(122;0.081)	UPI000000DA07	300			Cytoplasmic (Potential).		SNV	EFNB3,missense_variant,p.Gly300Asp,ENST00000226091,NM_001406.3;	uc002gis.2	c.899G>A	1296/3222	2	2			c.899G>A						17	SNP	c.(898-900)GGC>GAC	25	25			ovary(1)	1	Broad	ephrin-B3 precursor			7612770		0.667	ENSG00000108947	4872	g.chr17:7612770G>A	cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity							77.857429	KEEP	18	15	-1	39	42	18	15	-1	80.508792	39	42	0.318681	1	0	0	0	0	1	0	0	0	--	--		0	A				205	GBM-27-2528-TP	p.G300D	G	CTGCGGGGTGGCGGGGCTGCA	NM_001406	NP_001397	7612770	Q15768	EFNB3_HUMAN	0			5	1296	+	A	A		all_cancers(10;1.14e-06)|Prostate(122;0.081)	Missense_Mutation	300			Cytoplasmic (Potential).			
EFR3A	23167	broad.mit.edu	GRCh37	8	132966108	132966108	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-5417-01	TCGA-06-5417-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254624.5:c.532A>G	p.Lys178Glu	p.K178E	ENST00000254624	NM_015137.4	178	Aaa/Gaa	0			1			G	K/E	uc003yte.2	protein_coding	YES	CCDS34942.2			532/2466									ovary(3)|breast(1)|central_nervous_system(1)	5	c.(532-534)AAA>GAA			Gene3D:1.25.10.10,hmmpanther:PTHR12444,hmmpanther:PTHR12444:SF1,Superfamily_domains:SSF48371	EFR3 homolog A				ENSP00000254624		23-Jun									COSM3412757	23-Jun	.		ENST00000254624	Transcript				plasma membrane	binding	ENSG00000132294	g.chr8:132966108A>G	28970			MODERATE		2.49	medium	getma.org/?cm=msa&ty=f&p=EFR3A_HUMAN&rb=2&re=819&var=K178E	NA	getma.org/?cm=var&var=hg19,8,132966108,A,G&fts=all	K178E	--	--	1																																			1	1		probably_damaging(0.998)	p.K178E	NM_015137	NP_055952		deleterious(0)	1	EFR3A_HUMAN	EFR3A	HGNC	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		E5RJS1_HUMAN,B4DZ89_HUMAN		6	733	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		UPI00001C1E8F	178					SNV	EFR3A,missense_variant,p.Lys178Glu,ENST00000254624,NM_015137.4;EFR3A,missense_variant,p.Lys142Glu,ENST00000519656,;EFR3A,missense_variant,p.Lys178Glu,ENST00000334503,;EFR3A,downstream_gene_variant,,ENST00000522709,;	uc003yte.2	c.532A>G	757/5438	3	3			c.532A>G						8	SNP	c.(532-534)AAA>GAA	56	56			ovary(3)|breast(1)|central_nervous_system(1)	5	Broad	EFR3 homolog A			132966108		0.353	ENSG00000132294	4873	g.chr8:132966108A>G		plasma membrane	binding							13.567744	KEEP	2	3	-1	7	6	2	3	-1	14.367311	7	6	0.277778	1	0	0	0	0	1	0	0	0	--	--		0	G				99	GBM-06-5417-TP	p.K178E	A	TGTGGTTCGCAAAACAGTCAA	NM_015137	NP_055952	132966108	Q14156	EFR3A_HUMAN	0	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		6	733	+	G	G	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	178						
EFS	0	broad.mit.edu	GRCh37	14	23829158	23829158	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2528-01	TCGA-27-2528-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216733.3:c.529G>A	p.Ala177Thr	p.A177T	ENST00000216733	NM_005864.3	177	Gcc/Acc	0			1			T	A/T	uc001wjo.2	protein_coding	YES	CCDS9595.1			529/1686									large_intestine(1)	1	c.(529-531)GCC>ACC			hmmpanther:PTHR10654:SF13,hmmpanther:PTHR10654	embryonal Fyn-associated substrate isoform 1				ENSP00000216733		6-Apr									COSM3401243	6-Apr	.		ENST00000216733	Transcript			cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	ENSG00000100842	g.chr14:23829158C>T	16898			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=EFS_HUMAN&rb=61&re=260&var=A177T	NA	getma.org/?cm=var&var=hg19,14,23829158,C,T&fts=all	A177T	--	--	1																																		EFS_uc001wjp.2_Missense_Mutation_p.A84T|EFS_uc010tnm.1_Missense_Mutation_p.A84T	1	1		benign(0.003)	p.A177T	NM_005864	NP_005855		tolerated(0.14)	1	EFS_HUMAN	EFS	HGNC	O43281	EFS_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)			4	1137	-	all_cancers(95;7.12e-06)		UPI0000129D21	177			Pro-rich.		SNV	EFS,missense_variant,p.Ala177Thr,ENST00000216733,NM_005864.3;EFS,missense_variant,p.Ala84Thr,ENST00000351354,NM_032459.2,NM_001277174.1;EFS,missense_variant,p.Ala84Thr,ENST00000429593,;RP11-124D2.3,downstream_gene_variant,,ENST00000554010,;	uc001wjo.2	c.529G>A	1137/3118	1	1			c.529G>A						14	SNP	c.(529-531)GCC>ACC	3	3			large_intestine(1)	1	Broad	embryonal Fyn-associated substrate isoform 1			23829158		0.652	ENSG00000100842	4874	g.chr14:23829158C>T	cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding							102.361849	KEEP	27	21	-1	43	42	27	21	-1	104.660608	43	42	0.350427	1	0	0	0	0	1	0	0	0	--	--		0	T			EFS_uc001wjp.2_Missense_Mutation_p.A84T|EFS_uc010tnm.1_Missense_Mutation_p.A84T	205	GBM-27-2528-TP	p.A177T	C	GGCTGCGGGGCAACCCGGGTC	NM_005864	NP_005855	23829158	O43281	EFS_HUMAN	0		GBM - Glioblastoma multiforme(265;0.00649)	4	1137	-	T	T	all_cancers(95;7.12e-06)		Missense_Mutation	177			Pro-rich.			
EFTUD2	0	broad.mit.edu	GRCh37	17	42942379	42942379	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6698-01	TCGA-06-6698-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000426333.2:c.1204C>T	p.His402Tyr	p.H402Y	ENST00000426333	NM_001142605.1	402	Cac/Tac	0			1			A	H/Y	uc002ihn.2	protein_coding	YES	CCDS11489.1			1204/2919									ovary(1)	1	c.(1204-1206)CAC>TAC			Gene3D:1n0uA03,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF5,Superfamily_domains:SSF52540	elongation factor Tu GTP binding domain				ENSP00000392094		14/28									COSM3402940	14/28	.		ENST00000426333	Transcript	1			Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	ENSG00000108883	g.chr17:42942379G>A	30858			MODERATE		-0.22	neutral	getma.org/?cm=msa&ty=f&p=U5S1_HUMAN&rb=127&re=440&var=H402Y	getma.org/pdb.php?prot=U5S1_HUMAN&from=127&to=440&var=H402Y	getma.org/?cm=var&var=hg19,17,42942379,G,A&fts=all	H402Y	--	--	1																																OREG0024466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	EFTUD2_uc010wje.1_Missense_Mutation_p.H367Y|EFTUD2_uc010wjf.1_Missense_Mutation_p.H392Y	1	1		benign(0.004)	p.H402Y	NM_004247	NP_004238		tolerated(1)	1	U5S1_HUMAN	EFTUD2	HGNC	Q15029	U5S1_HUMAN			K7EIV5_HUMAN,K7EIT3_HUMAN,B3KX19_HUMAN		14	1465	-		Prostate(33;0.109)	UPI0000137931	402					SNV	EFTUD2,missense_variant,p.His402Tyr,ENST00000426333,NM_001142605.1,NM_004247.3,NM_001258354.1;EFTUD2,missense_variant,p.His402Tyr,ENST00000591382,NM_001258353.1;EFTUD2,missense_variant,p.His392Tyr,ENST00000592576,;EFTUD2,missense_variant,p.His367Tyr,ENST00000402521,;EFTUD2,non_coding_transcript_exon_variant,,ENST00000585616,;EFTUD2,3_prime_UTR_variant,,ENST00000591856,;EFTUD2,non_coding_transcript_exon_variant,,ENST00000590367,;EFTUD2,non_coding_transcript_exon_variant,,ENST00000586654,;EFTUD2,non_coding_transcript_exon_variant,,ENST00000585794,;EFTUD2,upstream_gene_variant,,ENST00000586276,;EFTUD2,upstream_gene_variant,,ENST00000587914,;	uc002ihn.2	c.1204C>T	1502/4548	1	1			c.1204C>T						17	SNP	c.(1204-1206)CAC>TAC	51	51			ovary(1)	1	Broad	elongation factor Tu GTP binding domain			42942379		0.557	ENSG00000108883	4876	g.chr17:42942379G>A		Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	Ovarian(10;65 485 10258 29980 30707)			Ovarian(10;65 485 10258 29980 30707)			303.924651	KEEP	54	52	-1	10	10	54	52	-1	315.96159	10	10	0.837838	1	0	0	0	0	1	0	0	0	--	--		0	A	OREG0024466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	EFTUD2_uc010wje.1_Missense_Mutation_p.H367Y|EFTUD2_uc010wjf.1_Missense_Mutation_p.H392Y	112	GBM-06-6698-TP	p.H402Y	G	TTCGTCAGGTGGATGCCAAGC	NM_004247	NP_004238	42942379	Q15029	U5S1_HUMAN	0			14	1465	-	A	A		Prostate(33;0.109)	Missense_Mutation	402						
EGF	0	broad.mit.edu	GRCh37	4	110880565	110880565	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-14-0813-01	TCGA-14-0813-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265171.5:c.1038C>A	p.Ala346=	p.A346=	ENST00000265171	NM_001963.4	346	gcC/gcA	0			1			A	A	uc003hzy.3	protein_coding	YES	CCDS3689.1			1038/3624									ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	c.(1036-1038)GCC>GCA			Superfamily_domains:SSF57184,SMART_domains:SM00181,PIRSF_domain:PIRSF001778,Gene3D:2.10.25.10,PROSITE_patterns:PS01186,hmmpanther:PTHR10529	epidermal growth factor precursor	Sulindac(DB00605)			ENSP00000265171		24-Jun									COSM2154679	24-Jun	.		ENST00000265171	Transcript	1		angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	ENSG00000138798	g.chr4:110880565C>A	3229			LOW								--	--	1																																		EGF_uc011cfu.1_Intron|EGF_uc011cfv.1_Silent_p.A346A	1	1			p.A346A	NM_001963	NP_001954			1	EGF_HUMAN	EGF	HGNC	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Q6QBS2_HUMAN		6	1490	+		Hepatocellular(203;0.0893)	UPI000013D5C8	346			EGF-like 1.|Extracellular (Potential).		SNV	EGF,synonymous_variant,p.=,ENST00000265171,NM_001963.4,NM_001178130.1;EGF,synonymous_variant,p.=,ENST00000503392,;EGF,intron_variant,,ENST00000509793,NM_001178131.1;EGF,non_coding_transcript_exon_variant,,ENST00000504633,;	uc003hzy.3	c.1038C>A	1483/4880	1	1			c.1038C>A						4	SNP	c.(1036-1038)GCC>GCA	51	51			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Broad	epidermal growth factor precursor		Sulindac(DB00605)	110880565		0.502	ENSG00000138798	4877	g.chr4:110880565C>A	angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			724			724	111.719359	KEEP	19	24	0.558139535	60	44	19	24	0.558139535	116.508095	60	44	0.301471	1	0	0	0	0	0	0	1	0	--	--		0	A			EGF_uc011cfu.1_Intron|EGF_uc011cfv.1_Silent_p.A346A	138	GBM-14-0813-TP	p.A346A	C	AGGGATACGCCCTAAGTCGAG	NM_001963	NP_001954	110880565	P01133	EGF_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	6	1490	+	A	A		Hepatocellular(203;0.0893)	Silent	346			EGF-like 1.|Extracellular (Potential).			
EGF	0	broad.mit.edu	GRCh37	4	110915953	110915953	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-14-3476-01	TCGA-14-3476-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265171.5:c.2922T>C	p.Ser974=	p.S974=	ENST00000265171	NM_001963.4	974	tcT/tcC	0			1			C	S	uc003hzy.3	protein_coding	YES	CCDS3689.1			2922/3624									ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	c.(2920-2922)TCT>TCC			Prints_domain:PR00009,Superfamily_domains:SSF57196,PIRSF_domain:PIRSF001778,Gene3D:2.10.25.10,PROSITE_profiles:PS50026	epidermal growth factor precursor	Sulindac(DB00605)			ENSP00000265171		20/24									COSM3408991	20/24	.		ENST00000265171	Transcript	1		angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	ENSG00000138798	g.chr4:110915953T>C	3229			LOW								--	--	1																																		EGF_uc011cfu.1_Silent_p.S932S|EGF_uc011cfv.1_Silent_p.S933S|EGF_uc010imk.2_Silent_p.S122S	1	1			p.S974S	NM_001963	NP_001954			1	EGF_HUMAN	EGF	HGNC	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Q6QBS2_HUMAN		20	3374	+		Hepatocellular(203;0.0893)	UPI000013D5C8	974			EGF-like 9.|Extracellular (Potential).		SNV	EGF,synonymous_variant,p.=,ENST00000265171,NM_001963.4,NM_001178130.1;EGF,synonymous_variant,p.=,ENST00000509793,NM_001178131.1;EGF,synonymous_variant,p.=,ENST00000503392,;RNU6-35P,downstream_gene_variant,,ENST00000384530,NR_046493.1;EGF,non_coding_transcript_exon_variant,,ENST00000509996,;	uc003hzy.3	c.2922T>C	3367/4880	3	3			c.2922T>C						4	SNP	c.(2920-2922)TCT>TCC	61	61			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Broad	epidermal growth factor precursor		Sulindac(DB00605)	110915953		0.438	ENSG00000138798	4877	g.chr4:110915953T>C	angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			724			724	-8.686519	KEEP	6	4	-1	79	92	6	4	-1	23.506679	79	92	0.062112	1	0	0	0	0	0	0	1	0	--	--		0	C			EGF_uc011cfu.1_Silent_p.S932S|EGF_uc011cfv.1_Silent_p.S933S|EGF_uc010imk.2_Silent_p.S122S	151	GBM-14-3476-TP	p.S974S	T	ATAGTGACTCTGAATGTCCCC	NM_001963	NP_001954	110915953	P01133	EGF_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	20	3374	+	C	C		Hepatocellular(203;0.0893)	Silent	974			EGF-like 9.|Extracellular (Potential).			
EGF	0	broad.mit.edu	GRCh37	4	110864421	110864421	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-19-5951-01	TCGA-19-5951-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265171.5:c.339T>C	p.Asn113=	p.N113=	ENST00000265171	NM_001963.4	113	aaT/aaC	0			1			C	N	uc003hzy.3	protein_coding	YES	CCDS3689.1			339/3624									ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	c.(337-339)AAT>AAC			Superfamily_domains:SSF63825,PIRSF_domain:PIRSF001778,SMART_domains:SM00135,Gene3D:2.120.10.30,PROSITE_profiles:PS51120	epidermal growth factor precursor	Sulindac(DB00605)			ENSP00000265171		24-Mar									COSM2156623	24-Mar	.		ENST00000265171	Transcript	1		angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	ENSG00000138798	g.chr4:110864421T>C	3229			LOW								--	--	1																																		EGF_uc011cfu.1_Silent_p.N113N|EGF_uc011cfv.1_Silent_p.N113N	1	1			p.N113N	NM_001963	NP_001954			1	EGF_HUMAN	EGF	HGNC	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Q6QBS2_HUMAN		3	791	+		Hepatocellular(203;0.0893)	UPI000013D5C8	113			LDL-receptor class B 1.|Extracellular (Potential).		SNV	EGF,synonymous_variant,p.=,ENST00000265171,NM_001963.4,NM_001178130.1;EGF,synonymous_variant,p.=,ENST00000509793,NM_001178131.1;EGF,synonymous_variant,p.=,ENST00000503392,;EGF,non_coding_transcript_exon_variant,,ENST00000502723,;	uc003hzy.3	c.339T>C	784/4880	3	3			c.339T>C						4	SNP	c.(337-339)AAT>AAC	13	13			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Broad	epidermal growth factor precursor		Sulindac(DB00605)	110864421		0.249	ENSG00000138798	4877	g.chr4:110864421T>C	angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			724			724	126.153833	KEEP	24	15	-1	18	20	24	15	-1	126.153833	18	20	0.5	1	0	0	0	0	0	0	1	0	--	--		0	C			EGF_uc011cfu.1_Silent_p.N113N|EGF_uc011cfv.1_Silent_p.N113N	171	GBM-19-5951-TP	p.N113N	T	GAGTATGTAATATAGAGAAAA	NM_001963	NP_001954	110864421	P01133	EGF_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	3	791	+	C	C		Hepatocellular(203;0.0893)	Silent	113			LDL-receptor class B 1.|Extracellular (Potential).			
EGF	0	broad.mit.edu	GRCh37	4	110895931	110895931	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-19-5960-01	TCGA-19-5960-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265171.5:c.1797A>T	p.Gln599His	p.Q599H	ENST00000265171	NM_001963.4	599	caA/caT	0			1			T	Q/H	uc003hzy.3	protein_coding	YES	CCDS3689.1			1797/3624									ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	c.(1795-1797)CAA>CAT			Superfamily_domains:SSF63825,PIRSF_domain:PIRSF001778,SMART_domains:SM00135,Gene3D:2.120.10.30,Pfam_domain:PF00058,hmmpanther:PTHR10529,PROSITE_profiles:PS51120	epidermal growth factor precursor	Sulindac(DB00605)			ENSP00000265171		24-Dec									COSM3408990	24-Dec	.		ENST00000265171	Transcript	1		angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	ENSG00000138798	g.chr4:110895931A>T	3229			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=EGF_HUMAN&rb=567&re=607&var=Q599H	getma.org/pdb.php?prot=EGF_HUMAN&from=567&to=607&var=Q599H	getma.org/?cm=var&var=hg19,4,110895931,A,T&fts=all	Q599H	--	--	1																																		EGF_uc011cfu.1_Missense_Mutation_p.Q557H|EGF_uc011cfv.1_Missense_Mutation_p.Q599H	1	1		possibly_damaging(0.513)	p.Q599H	NM_001963	NP_001954		tolerated(0.05)	1	EGF_HUMAN	EGF	HGNC	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Q6QBS2_HUMAN		12	2249	+		Hepatocellular(203;0.0893)	UPI000013D5C8	599			LDL-receptor class B 7.|Extracellular (Potential).		SNV	EGF,missense_variant,p.Gln599His,ENST00000265171,NM_001963.4,NM_001178130.1;EGF,missense_variant,p.Gln557His,ENST00000509793,NM_001178131.1;EGF,missense_variant,p.Gln599His,ENST00000503392,;EGF,upstream_gene_variant,,ENST00000541061,;EGF,non_coding_transcript_exon_variant,,ENST00000502579,;	uc003hzy.3	c.1797A>T	2242/4880	1	1			c.1797A>T						4	SNP	c.(1795-1797)CAA>CAT	16	16			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Broad	epidermal growth factor precursor		Sulindac(DB00605)	110895931		0.388	ENSG00000138798	4877	g.chr4:110895931A>T	angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			724			724	94.035322	KEEP	22	16	-1	33	20	22	16	-1	94.771996	33	20	0.394737	1	0	0	0	0	1	0	0	0	--	--		0	T			EGF_uc011cfu.1_Missense_Mutation_p.Q557H|EGF_uc011cfv.1_Missense_Mutation_p.Q599H	178	GBM-19-5960-TP	p.Q599H	A	ACATCTCTCAACCACGAGGAA	NM_001963	NP_001954	110895931	P01133	EGF_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	12	2249	+	T	T		Hepatocellular(203;0.0893)	Missense_Mutation	599			LDL-receptor class B 7.|Extracellular (Potential).			
EGF	0	broad.mit.edu	GRCh37	4	110883096	110883096	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-32-2495-01	TCGA-32-2495-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265171.5:c.1267T>A	p.Cys423Ser	p.C423S	ENST00000265171	NM_001963.4	423	Tgt/Agt	0			1			A	C/S	uc003hzy.3	protein_coding	YES	CCDS3689.1			1267/3624									ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	c.(1267-1269)TGT>AGT			Superfamily_domains:SSF57184,SMART_domains:SM00181,PIRSF_domain:PIRSF001778,Gene3D:2.10.25.10,hmmpanther:PTHR10529	epidermal growth factor precursor	Sulindac(DB00605)			ENSP00000265171		24-Aug									COSM3408989	24-Aug	.		ENST00000265171	Transcript	1		angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	ENSG00000138798	g.chr4:110883096T>A	3229			MODERATE		3.325	medium	getma.org/?cm=msa&ty=f&p=EGF_HUMAN&rb=397&re=437&var=C423S	NA	getma.org/?cm=var&var=hg19,4,110883096,T,A&fts=all	C423S	--	--	1																																		EGF_uc011cfu.1_Missense_Mutation_p.C381S|EGF_uc011cfv.1_Missense_Mutation_p.C423S	1	1		probably_damaging(0.992)	p.C423S	NM_001963	NP_001954		deleterious(0)	1	EGF_HUMAN	EGF	HGNC	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Q6QBS2_HUMAN		8	1719	+		Hepatocellular(203;0.0893)	UPI000013D5C8	423			EGF-like 3.|Extracellular (Potential).		SNV	EGF,missense_variant,p.Cys423Ser,ENST00000265171,NM_001963.4,NM_001178130.1;EGF,missense_variant,p.Cys381Ser,ENST00000509793,NM_001178131.1;EGF,missense_variant,p.Cys423Ser,ENST00000503392,;EGF,non_coding_transcript_exon_variant,,ENST00000504633,;	uc003hzy.3	c.1267T>A	1712/4880	2	2			c.1267T>A						4	SNP	c.(1267-1269)TGT>AGT	24	24			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Broad	epidermal growth factor precursor		Sulindac(DB00605)	110883096		0.393	ENSG00000138798	4877	g.chr4:110883096T>A	angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			724			724	-67.233341	KEEP	4	2	-1	160	198	4	2	-1	10.596423	160	198	0.019934	1	0	0	0	0	1	0	0	0	--	--		0	A			EGF_uc011cfu.1_Missense_Mutation_p.C381S|EGF_uc011cfv.1_Missense_Mutation_p.C423S	237	GBM-32-2495-TP	p.C423S	T	CTTATGTTTCTGTCCTGAAGG	NM_001963	NP_001954	110883096	P01133	EGF_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	8	1719	+	A	A		Hepatocellular(203;0.0893)	Missense_Mutation	423			EGF-like 3.|Extracellular (Potential).			
EGF	0	broad.mit.edu	GRCh37	4	110882086	110882086	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-4213-01	TCGA-32-4213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265171.5:c.1130C>A	p.Ser377Tyr	p.S377Y	ENST00000265171	NM_001963.4	377	tCc/tAc	0			1			A	S/Y	uc003hzy.3	protein_coding	YES	CCDS3689.1			1130/3624									ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	c.(1129-1131)TCC>TAC			Superfamily_domains:SSF57184,SMART_domains:SM00179,SMART_domains:SM00181,PIRSF_domain:PIRSF001778,Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS01187,PROSITE_patterns:PS00010,hmmpanther:PTHR10529,PROSITE_profiles:PS50026	epidermal growth factor precursor	Sulindac(DB00605)			ENSP00000265171		24-Jul									COSM3408988	24-Jul	.		ENST00000265171	Transcript	1		angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	ENSG00000138798	g.chr4:110882086C>A	3229			MODERATE		3.725	high	getma.org/?cm=msa&ty=f&p=EGF_HUMAN&rb=356&re=395&var=S377Y	getma.org/pdb.php?prot=EGF_HUMAN&from=356&to=395&var=S377Y	getma.org/?cm=var&var=hg19,4,110882086,C,A&fts=all	S377Y	--	--	1																																		EGF_uc011cfu.1_Missense_Mutation_p.S335Y|EGF_uc011cfv.1_Missense_Mutation_p.S377Y	1	1		probably_damaging(0.999)	p.S377Y	NM_001963	NP_001954		deleterious(0)	1	EGF_HUMAN	EGF	HGNC	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Q6QBS2_HUMAN		7	1582	+		Hepatocellular(203;0.0893)	UPI000013D5C8	377			EGF-like 2; calcium-binding (Potential).|Extracellular (Potential).		SNV	EGF,missense_variant,p.Ser377Tyr,ENST00000265171,NM_001963.4,NM_001178130.1;EGF,missense_variant,p.Ser335Tyr,ENST00000509793,NM_001178131.1;EGF,missense_variant,p.Ser377Tyr,ENST00000503392,;EGF,non_coding_transcript_exon_variant,,ENST00000504633,;	uc003hzy.3	c.1130C>A	1575/4880	2	2			c.1130C>A						4	SNP	c.(1129-1131)TCC>TAC	18	18			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Broad	epidermal growth factor precursor		Sulindac(DB00605)	110882086		0.398	ENSG00000138798	4877	g.chr4:110882086C>A	angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			724			724	133.981821	KEEP	19	35	0.648148148	43	59	19	35	0.648148148	136.463252	43	59	0.359155	1	0	0	0	0	1	0	0	0	--	--		0	A			EGF_uc011cfu.1_Missense_Mutation_p.S335Y|EGF_uc011cfv.1_Missense_Mutation_p.S377Y	247	GBM-32-4213-TP	p.S377Y	C	ACCCCTGGATCCTATTACTGC	NM_001963	NP_001954	110882086	P01133	EGF_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	7	1582	+	A	A		Hepatocellular(203;0.0893)	Missense_Mutation	377			EGF-like 2; calcium-binding (Potential).|Extracellular (Potential).			
EGFL6	0	broad.mit.edu	GRCh37	X	13624543	13624543	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01	TCGA-32-1970-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361306.1:c.566G>A	p.Arg189Gln	p.R189Q	ENST00000361306	NM_015507.3	189	cGa/cAa	0		A:0.0008	1	A:0		A	R/Q	uc004cvi.2	protein_coding		CCDS14155.1			566/1662									breast(2)	2	c.(565-567)CGA>CAA			PROSITE_profiles:PS50026,hmmpanther:PTHR24050,hmmpanther:PTHR24050:SF18,PROSITE_patterns:PS01187,Pfam_domain:PF07645,Gene3D:2.10.25.10,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184	epidermal growth factor-like protein 6		A:0		ENSP00000355126	A:0	12-Jun	3.29E-05	0.000117						9.92E-05	rs182977902,COSM3406000,COSM3405999	12-Jun	.		ENST00000361306	Transcript		A:0.0003	cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding	ENSG00000198759	g.chrX:13624543G>A	3235			MODERATE		-0.77	neutral	getma.org/?cm=msa&ty=f&p=EGFL6_HUMAN&rb=174&re=217&var=R189Q	getma.org/pdb.php?prot=EGFL6_HUMAN&from=174&to=217&var=R189Q	getma.org/?cm=var&var=hg19,X,13624543,G,A&fts=all	R189Q	--	--	1																																		EGFL6_uc004cvj.2_Missense_Mutation_p.R189Q|EGFL6_uc011mik.1_Missense_Mutation_p.R90Q	0,1,1			probably_damaging(0.999)	p.R189Q	NM_015507	NP_056322	A:0	deleterious(0)	0,1,1	EGFL6_HUMAN	EGFL6	HGNC	Q8IUX8	EGFL6_HUMAN					6	806	+			UPI000004A3C5	189			EGF-like 4; calcium-binding (Potential).		SNV	EGFL6,missense_variant,p.Arg189Gln,ENST00000361306,NM_015507.3,NM_001167890.1;EGFL6,missense_variant,p.Arg189Gln,ENST00000380602,;	uc004cvi.2	c.566G>A	823/2398	1	1			c.566G>A						23	SNP	c.(565-567)CGA>CAA	52	52			breast(2)	2	Broad	epidermal growth factor-like protein 6			13624543		0.398	ENSG00000198759	4878	g.chrX:13624543G>A	cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding							488.55045	KEEP	65	90	-1	10	9	65	90	-1	512.266665	10	9	0.8875	1	0	0	0	0	1	0	0	0	--	--		0	A			EGFL6_uc004cvj.2_Missense_Mutation_p.R189Q|EGFL6_uc011mik.1_Missense_Mutation_p.R90Q	228	GBM-32-1970-TP	p.R189Q	G	CCCTACAATCGAAGATGTGTG	NM_015507	NP_056322	13624543	Q8IUX8	EGFL6_HUMAN	0			6	806	+	A	A			Missense_Mutation	189			EGF-like 4; calcium-binding (Potential).			
EGFL7	51162	broad.mit.edu	GRCh37	9	139564727	139564727	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-02-0033-01	TCGA-02-0033-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308874.7:c.516C>T	p.Asp172=	p.D172=	ENST00000308874		172	gaC/gaT	0	T:0		1			T	D	uc004cid.2	protein_coding		CCDS7002.1			516/822									ovary(1)	1	c.(514-516)GAC>GAT			hmmpanther:PTHR14949,hmmpanther:PTHR14949:SF21,Pfam_domain:PF07645,Gene3D:2.10.25.10,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196,Superfamily_domains:SSF57184	EGF-like-domain, multiple 7			T:0.0001	ENSP00000307843		10-Jul	6.64E-05					7.08E-05		0.000207	rs374085521,COSM3413468	10-Jul	.		ENST00000308874	Transcript			angiogenesis|vasculogenesis		calcium ion binding	ENSG00000172889	g.chr9:139564727C>T	20594			LOW								--	--	1																																		EGFL7_uc004cif.2_Silent_p.D172D|EGFL7_uc004cig.2_RNA|EGFL7_uc010nbp.2_Silent_p.D172D|EGFL7_uc004cie.2_Silent_p.D172D|EGFL7_uc004cih.2_Silent_p.D172D|MIR126_hsa-mir-126|MI0000471_5'Flank	0,1				p.D172D	NM_201446	NP_958854			0,1	EGFL7_HUMAN	EGFL7	HGNC	Q9UHF1	EGFL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)	R4GMT3_HUMAN		7	1427	+	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)	UPI0000036A42	172			EGF-like 2; calcium-binding (Potential).		SNV	EGFL7,synonymous_variant,p.=,ENST00000371699,;EGFL7,synonymous_variant,p.=,ENST00000308874,;EGFL7,synonymous_variant,p.=,ENST00000406555,NM_016215.4;EGFL7,synonymous_variant,p.=,ENST00000371698,NM_201446.2;AGPAT2,downstream_gene_variant,,ENST00000371696,NM_006412.3;AGPAT2,downstream_gene_variant,,ENST00000371694,NM_001012727.1;AGPAT2,downstream_gene_variant,,ENST00000538402,;EGFL7,downstream_gene_variant,,ENST00000492862,;MIR126,upstream_gene_variant,,ENST00000362291,;EGFL7,non_coding_transcript_exon_variant,,ENST00000492002,;EGFL7,downstream_gene_variant,,ENST00000490469,;AGPAT2,downstream_gene_variant,,ENST00000472820,;	uc004cid.2	c.516C>T	833/1530	2	2			c.516C>T						9	SNP	c.(514-516)GAC>GAT	41	41			ovary(1)	1	Broad	EGF-like-domain, multiple 7			139564727		0.677	ENSG00000172889	4879	g.chr9:139564727C>T	angiogenesis|vasculogenesis		calcium ion binding							13.636667	KEEP	2	5	-1	20	19	2	5	-1	15.552763	20	19	0.222222	1	0	0	0	0	0	0	1	0	--	--		0	T			EGFL7_uc004cif.2_Silent_p.D172D|EGFL7_uc004cig.2_RNA|EGFL7_uc010nbp.2_Silent_p.D172D|EGFL7_uc004cie.2_Silent_p.D172D|EGFL7_uc004cih.2_Silent_p.D172D|MIR126_hsa-mir-126|MI0000471_5'Flank	2	GBM-02-0033-TP	p.D172D	C	TGTCTGCAGACGGTACACTCT	NM_201446	NP_958854	139564727	Q9UHF1	EGFL7_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)	7	1427	+	T	T	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)	Silent	172			EGF-like 2; calcium-binding (Potential).			
EGFLAM	0	broad.mit.edu	GRCh37	5	38463973	38463974	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-32-4719-01	TCGA-32-4719-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354891.3:c.2940dupT	p.Met981TyrfsTer147	p.M981Yfs*147	ENST00000354891	NM_001205301.1	980	tat/taTt	0			1			T	Y/YX	uc003jlc.1	protein_coding	YES	CCDS56363.1			2939-2940/3054									pancreas(3)|skin(3)|ovary(1)	7	c.(2938-2940)TATfs			PROSITE_profiles:PS50025,hmmpanther:PTHR10574:SF202,hmmpanther:PTHR10574,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282,Superfamily_domains:SSF49899	EGF-like, fibronectin type III and laminin G				ENSP00000346964		23/23										23/23	.		ENST00000354891	Transcript				cell junction|proteinaceous extracellular matrix|synapse		ENSG00000164318	g.chr5:38463973_38463974insT	26810	1		HIGH								--	--	1																																		EGFLAM_uc003jlb.1_Frame_Shift_Ins_p.Y972fs|EGFLAM_uc003jle.1_Frame_Shift_Ins_p.Y738fs|EGFLAM_uc003jlf.1_Frame_Shift_Ins_p.Y338fs|EGFLAM_uc003jlg.1_Frame_Shift_Ins_p.Y115fs|EGFLAM_uc003jlh.1_Frame_Shift_Ins_p.Y62fs		1			p.Y980fs	NM_152403	NP_689616				EGFLA_HUMAN	EGFLAM	HGNC	Q63HQ2	EGFLA_HUMAN			D6RJD2_HUMAN		23	3263_3264	+	all_lung(31;0.000385)		UPI000022C806	980			Laminin G-like 3.		insertion	EGFLAM,frameshift_variant,p.Met973TyrfsTer147,ENST00000322350,NM_152403.3;EGFLAM,frameshift_variant,p.Met981TyrfsTer147,ENST00000354891,NM_001205301.1;EGFLAM,frameshift_variant,p.Met739TyrfsTer147,ENST00000336740,NM_182798.2;EGFLAM,frameshift_variant,p.Met339TyrfsTer147,ENST00000397202,;EGFLAM,frameshift_variant,p.Met116TyrfsTer147,ENST00000397210,NM_182801.2;EGFLAM,frameshift_variant,p.Met116TyrfsTer?,ENST00000506135,;EGFLAM,frameshift_variant,p.Met116TyrfsTer?,ENST00000514476,;EGFLAM,downstream_gene_variant,,ENST00000508131,;CTD-2263F21.1,intron_variant,,ENST00000510469,;CTD-2263F21.1,downstream_gene_variant,,ENST00000510137,;EGFLAM,non_coding_transcript_exon_variant,,ENST00000513131,;	uc003jlc.1	c.2939_2940insT	3285-3286/3963	5	5			c.2939_2940insT						5	INS	c.(2938-2940)TATfs	45	45			pancreas(3)|skin(3)|ovary(1)	7	Broad	EGF-like, fibronectin type III and laminin G			38463974		0.52	ENSG00000164318	4881	g.chr5:38463973_38463974insT		cell junction|proteinaceous extracellular matrix|synapse		Colon(62;485 1295 3347 17454)			Colon(62;485 1295 3347 17454)																0.38	1	0	0	1	1	0	0	0	0	--	--		0	T			EGFLAM_uc003jlb.1_Frame_Shift_Ins_p.Y972fs|EGFLAM_uc003jle.1_Frame_Shift_Ins_p.Y738fs|EGFLAM_uc003jlf.1_Frame_Shift_Ins_p.Y338fs|EGFLAM_uc003jlg.1_Frame_Shift_Ins_p.Y115fs|EGFLAM_uc003jlh.1_Frame_Shift_Ins_p.Y62fs	248	GBM-32-4719-TP	p.Y980fs	-	AACAGGCAATATATGAGAGGGC	NM_152403	NP_689616	38463973	Q63HQ2	EGFLA_HUMAN	0			23	3263_3264	+	T	T	all_lung(31;0.000385)		Frame_Shift_Ins	980			Laminin G-like 3.			
EGFLAM	0	broad.mit.edu	GRCh37	5	38438444	38438444	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01	TCGA-41-4097-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354891.3:c.2351C>T	p.Ala784Val	p.A784V	ENST00000354891	NM_001205301.1	784	gCg/gTg	0			1			T	A/V	uc003jlc.1	protein_coding	YES	CCDS56363.1			2351/3054									pancreas(3)|skin(3)|ovary(1)	7	c.(2350-2352)GCG>GTG			PROSITE_profiles:PS50025,PROSITE_profiles:PS50026,hmmpanther:PTHR10574:SF202,hmmpanther:PTHR10574,Gene3D:2.60.120.200	EGF-like, fibronectin type III and laminin G				ENSP00000346964		17/23	8.24E-05			0.000578		7.50E-05			rs200259259,COSM2688899,COSM2688898	17/23	common_variant		ENST00000354891	Transcript				cell junction|proteinaceous extracellular matrix|synapse		ENSG00000164318	g.chr5:38438444C>T	26810			MODERATE		2.325	medium	getma.org/?cm=msa&ty=f&p=EGFLA_HUMAN&rb=609&re=788&var=A784V	getma.org/pdb.php?prot=EGFLA_HUMAN&from=609&to=788&var=A784V	getma.org/?cm=var&var=hg19,5,38438444,C,T&fts=all	A784V	--	--	1																																		EGFLAM_uc003jlb.1_Missense_Mutation_p.A784V|EGFLAM_uc003jle.1_Missense_Mutation_p.A550V|EGFLAM_uc003jlf.1_Missense_Mutation_p.A150V	0,1,1	1		possibly_damaging(0.604)	p.A784V	NM_152403	NP_689616		deleterious(0.02)	0,1,1	EGFLA_HUMAN	EGFLAM	HGNC	Q63HQ2	EGFLA_HUMAN			D6RJD2_HUMAN		17	2675	+	all_lung(31;0.000385)		UPI000022C806	784			Laminin G-like 2.|EGF-like 3.		SNV	EGFLAM,missense_variant,p.Ala784Val,ENST00000322350,NM_152403.3;EGFLAM,missense_variant,p.Ala784Val,ENST00000354891,NM_001205301.1;EGFLAM,missense_variant,p.Ala550Val,ENST00000336740,NM_182798.2;EGFLAM,missense_variant,p.Ala150Val,ENST00000397202,;	uc003jlc.1	c.2351C>T	2697/3963	2	2			c.2351C>T						5	SNP	c.(2350-2352)GCG>GTG	34	34			pancreas(3)|skin(3)|ovary(1)	7	Broad	EGF-like, fibronectin type III and laminin G			38438444		0.547	ENSG00000164318	4881	g.chr5:38438444C>T		cell junction|proteinaceous extracellular matrix|synapse		Colon(62;485 1295 3347 17454)			Colon(62;485 1295 3347 17454)			-2.611408	KEEP	0	3	-1	22	28	0	3	-1	6.418312	22	28	0.065217	1	0	0	0	0	1	0	0	0	--	--		0	T			EGFLAM_uc003jlb.1_Missense_Mutation_p.A784V|EGFLAM_uc003jle.1_Missense_Mutation_p.A550V|EGFLAM_uc003jlf.1_Missense_Mutation_p.A150V	257	GBM-41-4097-TP	p.A784V	C	GTGGAGAATGCGGCCCACCCC	NM_152403	NP_689616	38438444	Q63HQ2	EGFLA_HUMAN	0			17	2675	+	T	T	all_lung(31;0.000385)		Missense_Mutation	784			Laminin G-like 2.|EGF-like 3.			
EGFR	1956	broad.mit.edu	GRCh37	7	55233109	55233109	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs150899403		TCGA-02-0003-01	TCGA-02-0003-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.1859G>A	p.Cys620Tyr	p.C620Y	ENST00000275493	NM_005228.3	620	tGc/tAc	0			1			A	C/Y	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	1859/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.C620Y(1)|p.C620W(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(1858-1860)TGC>TAC			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,Gene3D:2.10.220.10,Pfam_domain:PF14843,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		15/28									rs150899403,COSM35825,COSM1559817	15/28	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55233109G>A	3236			MODERATE		4.095	high	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=482&re=681&var=C620Y	getma.org/pdb.php?prot=EGFR_HUMAN&from=482&to=681&var=C620Y	getma.org/?cm=var&var=hg19,7,55233109,G,A&fts=all	C620Y	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqi.2_Missense_Mutation_p.C620Y|EGFR_uc003tqj.2_Missense_Mutation_p.C620Y|EGFR_uc010kzg.1_Missense_Mutation_p.C575Y|EGFR_uc011kco.1_Missense_Mutation_p.C567Y|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA	0,1,1	1		possibly_damaging(0.788)	p.C620Y	NM_005228	NP_005219		deleterious(0)	0,1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		15	2105	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	620			Extracellular (Potential).		SNV	EGFR,missense_variant,p.Cys620Tyr,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Cys567Tyr,ENST00000454757,;EGFR,missense_variant,p.Cys575Tyr,ENST00000455089,;EGFR,missense_variant,p.Cys620Tyr,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Cys620Tyr,ENST00000442591,;EGFR,missense_variant,p.Cys620Tyr,ENST00000342916,NM_201282.1;	uc003tqk.2	c.1859G>A	2036/9821	1	1		8	c.1859G>A	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(1858-1860)TGC>TAC	61	61		p.C620Y(1)|p.C620W(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55233109	Lung_Cancer_Familial_Clustering_of	0.542	ENSG00000146648	4882	g.chr7:55233109G>A	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	750.655908	KEEP	203	240	-1	266	239	203	240	-1	751.477258	266	239	0.461417	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	A			EGFR_uc003tqi.2_Missense_Mutation_p.C620Y|EGFR_uc003tqj.2_Missense_Mutation_p.C620Y|EGFR_uc010kzg.1_Missense_Mutation_p.C575Y|EGFR_uc011kco.1_Missense_Mutation_p.C567Y|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA	1	GBM-02-0003-TP	p.C620Y	G	TGCCACCTGTGCCATCCAAAC	NM_005228	NP_005219	55233109	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		15	2105	+	A	A	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	620			Extracellular (Potential).			
EGFR	1956	broad.mit.edu	GRCh37	7	55233037	55233037	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.1787C>T	p.Pro596Leu	p.P596L	ENST00000275493	NM_005228.3	596	cCg/cTg	0			1			T	P/L	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	1787/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.P596L(2)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(1786-1788)CCG>CTG			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,SMART_domains:SM00261,Gene3D:2.10.220.10,Pfam_domain:PF14843,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		15/28									COSM21689,COSM191988	15/28	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55233037C>T	3236			MODERATE		2.775	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=482&re=681&var=P596L	getma.org/pdb.php?prot=EGFR_HUMAN&from=482&to=681&var=P596L	getma.org/?cm=var&var=hg19,7,55233037,C,T&fts=all	P596L	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqi.2_Missense_Mutation_p.P596L|EGFR_uc003tqj.2_Missense_Mutation_p.P596L|EGFR_uc010kzg.1_Missense_Mutation_p.P551L|EGFR_uc011kco.1_Missense_Mutation_p.P543L|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA	1,1	1		benign(0.367)	p.P596L	NM_005228	NP_005219		deleterious(0)	1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		15	2033	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	596			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Pro596Leu,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Pro543Leu,ENST00000454757,;EGFR,missense_variant,p.Pro551Leu,ENST00000455089,;EGFR,missense_variant,p.Pro596Leu,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Pro596Leu,ENST00000442591,;EGFR,missense_variant,p.Pro596Leu,ENST00000342916,NM_201282.1;	uc003tqk.2	c.1787C>T	1964/9821	1	1		8	c.1787C>T	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(1786-1788)CCG>CTG	10	10		p.P596L(2)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55233037	Lung_Cancer_Familial_Clustering_of	0.567	ENSG00000146648	4882	g.chr7:55233037C>T	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	-67.416707	KEEP	30	35	-1	445	487	30	35	-1	122.668747	445	487	0.059701	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	T			EGFR_uc003tqi.2_Missense_Mutation_p.P596L|EGFR_uc003tqj.2_Missense_Mutation_p.P596L|EGFR_uc010kzg.1_Missense_Mutation_p.P551L|EGFR_uc011kco.1_Missense_Mutation_p.P543L|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA	18	GBM-06-0137-TP	p.P596L	C	AAGACCTGCCCGGCAGGAGTC	NM_005228	NP_005219	55233037	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		15	2033	+	T	T	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	596			Approximate.|Extracellular (Potential).			
EGFR	1956	broad.mit.edu	GRCh37	7	55220274	55220274	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0154-01	TCGA-06-0154-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.664C>T	p.Arg222Cys	p.R222C	ENST00000275493	NM_005228.3	222	Cgc/Tgc	0			1			T	R/C	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	664/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.V30_R297>G(5)|p.R222C(2)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(664-666)CGC>TGC			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,Pfam_domain:PF00757,Gene3D:2.10.220.10,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Jun									COSM35508,COSM191968	28-Jun	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55220274C>T	3236			MODERATE		3.325	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=177&re=338&var=R222C	getma.org/pdb.php?prot=EGFR_HUMAN&from=177&to=338&var=R222C	getma.org/?cm=var&var=hg19,7,55220274,C,T&fts=all	R222C	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.R222C|EGFR_uc003tqi.2_Missense_Mutation_p.R222C|EGFR_uc003tqj.2_Missense_Mutation_p.R222C|EGFR_uc010kzg.1_Missense_Mutation_p.R177C|EGFR_uc011kco.1_Missense_Mutation_p.R169C|EGFR_uc003tql.1_RNA	1,1	1		probably_damaging(1)	p.R222C	NM_005228	NP_005219		deleterious(0)	1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		6	910	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	222			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Arg222Cys,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Arg169Cys,ENST00000454757,;EGFR,missense_variant,p.Arg177Cys,ENST00000455089,;EGFR,missense_variant,p.Arg222Cys,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Arg222Cys,ENST00000442591,;EGFR,missense_variant,p.Arg222Cys,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Arg222Cys,ENST00000420316,NM_201283.1;	uc003tqk.2	c.664C>T	841/9821	1	1		8	c.664C>T	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(664-666)CGC>TGC	3	3		p.V30_R297>G(5)|p.R222C(2)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55220274	Lung_Cancer_Familial_Clustering_of	0.597	ENSG00000146648	4882	g.chr7:55220274C>T	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	2427.131034	KEEP	433	399	-1	95	70	433	399	-1	2514.3934	95	70	0.819079	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	T			EGFR_uc003tqh.2_Missense_Mutation_p.R222C|EGFR_uc003tqi.2_Missense_Mutation_p.R222C|EGFR_uc003tqj.2_Missense_Mutation_p.R222C|EGFR_uc010kzg.1_Missense_Mutation_p.R177C|EGFR_uc011kco.1_Missense_Mutation_p.R169C|EGFR_uc003tql.1_RNA	26	GBM-06-0154-TP	p.R222C	C	GTGCTCCGGGCGCTGCCGTGG	NM_005228	NP_005219	55220274	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	910	+	T	T	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	222			Approximate.|Extracellular (Potential).			
EGFR	1956	broad.mit.edu	GRCh37	7	55223543	55223543	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01	TCGA-06-0155-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.910C>T	p.His304Tyr	p.H304Y	ENST00000275493	NM_005228.3	304	Cac/Tac	0			1			T	H/Y	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	910/3633	A|O|Mis			NSCLC	glioma|NSCLC				lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(910-912)CAC>TAC			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,Gene3D:2.10.220.10,Pfam_domain:PF00757,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Aug									COSM2149971,COSM2149972	28-Aug	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55223543C>T	3236			MODERATE		2.615	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=177&re=338&var=H304Y	getma.org/pdb.php?prot=EGFR_HUMAN&from=177&to=338&var=H304Y	getma.org/?cm=var&var=hg19,7,55223543,C,T&fts=all	H304Y	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.H304Y|EGFR_uc003tqi.2_Missense_Mutation_p.H304Y|EGFR_uc003tqj.2_Missense_Mutation_p.H304Y|EGFR_uc010kzg.1_Missense_Mutation_p.H259Y|EGFR_uc011kco.1_Missense_Mutation_p.H251Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	1,1	1		benign(0.049)	p.H304Y	NM_005228	NP_005219		tolerated(1)	1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		8	1156	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	304			Extracellular (Potential).		SNV	EGFR,missense_variant,p.His304Tyr,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.His251Tyr,ENST00000454757,;EGFR,missense_variant,p.His259Tyr,ENST00000455089,;EGFR,missense_variant,p.His304Tyr,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.His304Tyr,ENST00000442591,;EGFR,missense_variant,p.His304Tyr,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.His304Tyr,ENST00000420316,NM_201283.1;	uc003tqk.2	c.910C>T	1087/9821	2	2		8	c.910C>T	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(910-912)CAC>TAC	22	22			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55223543	Lung_Cancer_Familial_Clustering_of	0.592	ENSG00000146648	4882	g.chr7:55223543C>T	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	187.432163	KEEP	66	53	-1	174	208	66	53	-1	212.320632	174	208	0.23219	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	T			EGFR_uc003tqh.2_Missense_Mutation_p.H304Y|EGFR_uc003tqi.2_Missense_Mutation_p.H304Y|EGFR_uc003tqj.2_Missense_Mutation_p.H304Y|EGFR_uc010kzg.1_Missense_Mutation_p.H259Y|EGFR_uc011kco.1_Missense_Mutation_p.H251Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	27	GBM-06-0155-TP	p.H304Y	C	GGTGACAGATCACGGCTCGTG	NM_005228	NP_005219	55223543	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		8	1156	+	T	T	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	304			Extracellular (Potential).			
EGFR	1956	broad.mit.edu	GRCh37	7	55221822	55221822	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-06-0157-01	TCGA-06-0157-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.866C>T	p.Ala289Val	p.A289V	ENST00000275493	NM_005228.3	289	gCc/gTc	0			1			T	A/V	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	866/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(865-867)GCC>GTC			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,Gene3D:2.10.220.10,Pfam_domain:PF00757,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Jul									rs149840192,COSM21687,COSM1559811	28-Jul	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55221822C>T	3236			MODERATE		3.06	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=177&re=338&var=A289V	getma.org/pdb.php?prot=EGFR_HUMAN&from=177&to=338&var=A289V	getma.org/?cm=var&var=hg19,7,55221822,C,T&fts=all	A289V	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	0,1,1	1		probably_damaging(0.974)	p.A289V	NM_005228	NP_005219		deleterious(0.02)	0,1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		7	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	289			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Ala289Val,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Ala236Val,ENST00000454757,;EGFR,missense_variant,p.Ala244Val,ENST00000455089,;EGFR,missense_variant,p.Ala289Val,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Ala289Val,ENST00000442591,;EGFR,missense_variant,p.Ala289Val,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Ala289Val,ENST00000420316,NM_201283.1;	uc003tqk.2	c.866C>T	1043/9821	1	1		8	c.866C>T	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(865-867)GCC>GTC	13	13		p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55221822	Lung_Cancer_Familial_Clustering_of	0.592	ENSG00000146648	4882	g.chr7:55221822C>T	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity		p.A289V(HEC6-Tumor)|p.A289D(HS683-Tumor)|p.A289V(RL952-Tumor)	608		p.A289V(HEC6-Tumor)|p.A289D(HS683-Tumor)|p.A289V(RL952-Tumor)	608	2831.126089	KEEP	452	480	-1	28	39	452	480	-1	2989.935893	28	39	0.910849	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	T			EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	28	GBM-06-0157-TP	p.A289V	C	AGCTTTGGTGCCACCTGCGTG	NM_005228	NP_005219	55221822	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1112	+	T	T	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	289			Approximate.|Extracellular (Potential).			
EGFR	1956	broad.mit.edu	GRCh37	7	55211080	55211080	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01	TCGA-06-0158-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.323G>A	p.Arg108Lys	p.R108K	ENST00000275493	NM_005228.3	108	aGa/aAa	0			1			A	R/K	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	323/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.R108K(7)|p.V30_R297>G(5)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(322-324)AGA>AAA			Superfamily_domains:SSF52058,PIRSF_domain:PIRSF000619,Gene3D:3.80.20.20,Pfam_domain:PF01030,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Mar									COSM21683,COSM1559806	28-Mar	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55211080G>A	3236			MODERATE		2.965	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=57&re=168&var=R108K	getma.org/pdb.php?prot=EGFR_HUMAN&from=57&to=168&var=R108K	getma.org/?cm=var&var=hg19,7,55211080,G,A&fts=all	R108K	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.R108K|EGFR_uc003tqi.2_Missense_Mutation_p.R108K|EGFR_uc003tqj.2_Missense_Mutation_p.R108K|EGFR_uc010kzg.1_Missense_Mutation_p.R108K|EGFR_uc011kco.1_Missense_Mutation_p.R55K	1,1	1		probably_damaging(0.998)	p.R108K	NM_005228	NP_005219		deleterious(0)	1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		3	569	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	108			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Arg108Lys,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Arg55Lys,ENST00000454757,;EGFR,missense_variant,p.Arg108Lys,ENST00000455089,;EGFR,missense_variant,p.Arg108Lys,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Arg108Lys,ENST00000442591,;EGFR,missense_variant,p.Arg108Lys,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Arg108Lys,ENST00000420316,NM_201283.1;EGFR,missense_variant,p.Arg55Lys,ENST00000450046,;	uc003tqk.2	c.323G>A	500/9821	1	1		8	c.323G>A	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(322-324)AGA>AAA	50	50		p.R108K(7)|p.V30_R297>G(5)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55211080	Lung_Cancer_Familial_Clustering_of	0.423	ENSG00000146648	4882	g.chr7:55211080G>A	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	-6.305225	KEEP	29	30	-1	478	462	29	30	-1	167.121482	478	462	0.076352	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	A			EGFR_uc003tqh.2_Missense_Mutation_p.R108K|EGFR_uc003tqi.2_Missense_Mutation_p.R108K|EGFR_uc003tqj.2_Missense_Mutation_p.R108K|EGFR_uc010kzg.1_Missense_Mutation_p.R108K|EGFR_uc011kco.1_Missense_Mutation_p.R55K	29	GBM-06-0158-TP	p.R108K	G	CAGATCATCAGAGGAAATATG	NM_005228	NP_005219	55211080	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		3	569	+	A	A	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	108			Approximate.|Extracellular (Potential).			
EGFR	1956	broad.mit.edu	GRCh37	7	55233036	55233036	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01	TCGA-06-0158-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.1786C>T	p.Pro596Ser	p.P596S	ENST00000275493	NM_005228.3	596	Ccg/Tcg	0			1			T	P/S	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	1786/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.P596L(2)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(1786-1788)CCG>TCG			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,SMART_domains:SM00261,Gene3D:2.10.220.10,Pfam_domain:PF14843,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		15/28									COSM3412194,COSM3412195	15/28	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55233036C>T	3236			MODERATE		2.145	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=482&re=681&var=P596S	getma.org/pdb.php?prot=EGFR_HUMAN&from=482&to=681&var=P596S	getma.org/?cm=var&var=hg19,7,55233036,C,T&fts=all	P596S	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqi.2_Missense_Mutation_p.P596S|EGFR_uc003tqj.2_Missense_Mutation_p.P596S|EGFR_uc010kzg.1_Missense_Mutation_p.P551S|EGFR_uc011kco.1_Missense_Mutation_p.P543S|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA	1,1	1		possibly_damaging(0.732)	p.P596S	NM_005228	NP_005219		deleterious(0)	1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		15	2032	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	596			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Pro596Ser,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Pro543Ser,ENST00000454757,;EGFR,missense_variant,p.Pro551Ser,ENST00000455089,;EGFR,missense_variant,p.Pro596Ser,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Pro596Ser,ENST00000442591,;EGFR,missense_variant,p.Pro596Ser,ENST00000342916,NM_201282.1;	uc003tqk.2	c.1786C>T	1963/9821	2	2		8	c.1786C>T	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(1786-1788)CCG>TCG	37	37		p.P596L(2)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55233036	Lung_Cancer_Familial_Clustering_of	0.567	ENSG00000146648	4882	g.chr7:55233036C>T	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	-220.088385	KEEP	8	8	-1	456	527	8	8	-1	21.935685	456	527	0.016393	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	T			EGFR_uc003tqi.2_Missense_Mutation_p.P596S|EGFR_uc003tqj.2_Missense_Mutation_p.P596S|EGFR_uc010kzg.1_Missense_Mutation_p.P551S|EGFR_uc011kco.1_Missense_Mutation_p.P543S|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA	29	GBM-06-0158-TP	p.P596S	C	CAAGACCTGCCCGGCAGGAGT	NM_005228	NP_005219	55233036	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		15	2032	+	T	T	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	596			Approximate.|Extracellular (Potential).			
EGFR	1956	broad.mit.edu	GRCh37	7	55233043	55233043	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs139236063		TCGA-06-0158-01	TCGA-06-0158-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.1793G>C	p.Gly598Ala	p.G598A	ENST00000275493	NM_005228.3	598	gGa/gCa	0			1			C	G/A	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	1793/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.G598V(16)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(1792-1794)GGA>GCA			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,SMART_domains:SM00261,Gene3D:2.10.220.10,Pfam_domain:PF14843,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		15/28									COSM3412196,COSM3412197	15/28	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55233043G>C	3236			MODERATE		2.855	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=482&re=681&var=G598A	getma.org/pdb.php?prot=EGFR_HUMAN&from=482&to=681&var=G598A	getma.org/?cm=var&var=hg19,7,55233043,G,C&fts=all	G598A	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqi.2_Missense_Mutation_p.G598A|EGFR_uc003tqj.2_Missense_Mutation_p.G598A|EGFR_uc010kzg.1_Missense_Mutation_p.G553A|EGFR_uc011kco.1_Missense_Mutation_p.G545A|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA	1,1	1		benign(0.278)	p.G598A	NM_005228	NP_005219		deleterious(0.01)	1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		15	2039	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	598			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Gly598Ala,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Gly545Ala,ENST00000454757,;EGFR,missense_variant,p.Gly553Ala,ENST00000455089,;EGFR,missense_variant,p.Gly598Ala,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Gly598Ala,ENST00000442591,;EGFR,missense_variant,p.Gly598Ala,ENST00000342916,NM_201282.1;	uc003tqk.2	c.1793G>C	1970/9821	3	3		8	c.1793G>C	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(1792-1794)GGA>GCA	52	52		p.G598V(16)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55233043	Lung_Cancer_Familial_Clustering_of	0.567	ENSG00000146648	4882	g.chr7:55233043G>C	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	-215.668163	KEEP	8	9	-1	477	504	8	9	-1	29.623594	477	504	0.015217	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	C			EGFR_uc003tqi.2_Missense_Mutation_p.G598A|EGFR_uc003tqj.2_Missense_Mutation_p.G598A|EGFR_uc010kzg.1_Missense_Mutation_p.G553A|EGFR_uc011kco.1_Missense_Mutation_p.G545A|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA	29	GBM-06-0158-TP	p.G598A	G	TGCCCGGCAGGAGTCATGGGA	NM_005228	NP_005219	55233043	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		15	2039	+	C	C	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	598			Approximate.|Extracellular (Potential).			
EGFR	1956	broad.mit.edu	GRCh37	7	55233091	55233091	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01	TCGA-06-0174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.1841G>A	p.Gly614Asp	p.G614D	ENST00000275493	NM_005228.3	614	gGc/gAc	0			1			A	G/D	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	1841/3633	A|O|Mis			NSCLC	glioma|NSCLC				lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(1840-1842)GGC>GAC			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,Gene3D:2.10.220.10,Pfam_domain:PF14843,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		15/28	8.24E-06							6.06E-05	rs750850720,COSM3412198,COSM3412199	15/28	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55233091G>A	3236			MODERATE		-0.385	neutral	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=482&re=681&var=G614D	getma.org/pdb.php?prot=EGFR_HUMAN&from=482&to=681&var=G614D	getma.org/?cm=var&var=hg19,7,55233091,G,A&fts=all	G614D	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqi.2_Missense_Mutation_p.G614D|EGFR_uc003tqj.2_Missense_Mutation_p.G614D|EGFR_uc010kzg.1_Missense_Mutation_p.G569D|EGFR_uc011kco.1_Missense_Mutation_p.G561D|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA	0,1,1	1		benign(0)	p.G614D	NM_005228	NP_005219		tolerated(0.68)	0,1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		15	2087	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	614			Extracellular (Potential).		SNV	EGFR,missense_variant,p.Gly614Asp,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Gly561Asp,ENST00000454757,;EGFR,missense_variant,p.Gly569Asp,ENST00000455089,;EGFR,missense_variant,p.Gly614Asp,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Gly614Asp,ENST00000442591,;EGFR,missense_variant,p.Gly614Asp,ENST00000342916,NM_201282.1;	uc003tqk.2	c.1841G>A	2018/9821	1	1		8	c.1841G>A	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(1840-1842)GGC>GAC	57	57			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55233091	Lung_Cancer_Familial_Clustering_of	0.537	ENSG00000146648	4882	g.chr7:55233091G>A	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	-9.814807	KEEP	13	17	-1	167	187	13	17	-1	47.351956	167	187	0.079114	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	A			EGFR_uc003tqi.2_Missense_Mutation_p.G614D|EGFR_uc003tqj.2_Missense_Mutation_p.G614D|EGFR_uc010kzg.1_Missense_Mutation_p.G569D|EGFR_uc011kco.1_Missense_Mutation_p.G561D|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA	37	GBM-06-0174-TP	p.G614D	G	GCAGACGCCGGCCATGTGTGC	NM_005228	NP_005219	55233091	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		15	2087	+	A	A	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	614			Extracellular (Potential).			
EGFR	1956	broad.mit.edu	GRCh37	7	55221782	55221782	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0211-01	TCGA-06-0211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.826C>T	p.Gln276Ter	p.Q276*	ENST00000275493	NM_005228.3	276	Cag/Tag	0			1			T	Q/*	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	826/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.V30_R297>G(5)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(826-828)CAG>TAG			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,Gene3D:2.10.220.10,Pfam_domain:PF00757,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Jul									COSM3412186,COSM3412187	28-Jul	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55221782C>T	3236			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,55221782,C,T&fts=all	Q276*	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Nonsense_Mutation_p.Q276*|EGFR_uc003tqi.2_Nonsense_Mutation_p.Q276*|EGFR_uc003tqj.2_Nonsense_Mutation_p.Q276*|EGFR_uc010kzg.1_Nonsense_Mutation_p.Q231*|EGFR_uc011kco.1_Nonsense_Mutation_p.Q223*|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	1,1	1			p.Q276*	NM_005228	NP_005219			1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		7	1072	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	276			Approximate.|Extracellular (Potential).		SNV	EGFR,stop_gained,p.Gln276Ter,ENST00000275493,NM_005228.3;EGFR,stop_gained,p.Gln223Ter,ENST00000454757,;EGFR,stop_gained,p.Gln231Ter,ENST00000455089,;EGFR,stop_gained,p.Gln276Ter,ENST00000344576,NM_201284.1;EGFR,stop_gained,p.Gln276Ter,ENST00000442591,;EGFR,stop_gained,p.Gln276Ter,ENST00000342916,NM_201282.1;EGFR,stop_gained,p.Gln276Ter,ENST00000420316,NM_201283.1;	uc003tqk.2	c.826C>T	1003/9821	5	2		8	c.826C>T	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(826-828)CAG>TAG	38	38		p.V30_R297>G(5)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55221782	Lung_Cancer_Familial_Clustering_of	0.592	ENSG00000146648	4882	g.chr7:55221782C>T	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	-157.193375	KEEP	13	15	-1	450	513	13	15	-1	44.652034	450	513	0.027981	1	0	0	0	0	0	1	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	T			EGFR_uc003tqh.2_Nonsense_Mutation_p.Q276*|EGFR_uc003tqi.2_Nonsense_Mutation_p.Q276*|EGFR_uc003tqj.2_Nonsense_Mutation_p.Q276*|EGFR_uc010kzg.1_Nonsense_Mutation_p.Q231*|EGFR_uc011kco.1_Nonsense_Mutation_p.Q223*|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	48	GBM-06-0211-TP	p.Q276*	C	CACCACGTACCAGATGGATGT	NM_005228	NP_005219	55221782	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1072	+	T	T	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Nonsense_Mutation	276			Approximate.|Extracellular (Potential).			
EGFR	1956	broad.mit.edu	GRCh37	7	55233035	55233035	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0648-01	TCGA-06-0648-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.1785C>T	p.Cys595=	p.C595=	ENST00000275493	NM_005228.3	595	tgC/tgT	0			1			T	C	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	1785/3633	A|O|Mis			NSCLC	glioma|NSCLC				lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(1783-1785)TGC>TGT			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,SMART_domains:SM00261,Gene3D:2.10.220.10,Pfam_domain:PF14843,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		15/28									COSM3412192,COSM3412193	15/28	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55233035C>T	3236			LOW								--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqi.2_Silent_p.C595C|EGFR_uc003tqj.2_Silent_p.C595C|EGFR_uc010kzg.1_Silent_p.C550C|EGFR_uc011kco.1_Silent_p.C542C|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA	1,1	1			p.C595C	NM_005228	NP_005219			1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		15	2031	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	595			Approximate.|Extracellular (Potential).		SNV	EGFR,synonymous_variant,p.=,ENST00000275493,NM_005228.3;EGFR,synonymous_variant,p.=,ENST00000454757,;EGFR,synonymous_variant,p.=,ENST00000455089,;EGFR,synonymous_variant,p.=,ENST00000344576,NM_201284.1;EGFR,synonymous_variant,p.=,ENST00000442591,;EGFR,synonymous_variant,p.=,ENST00000342916,NM_201282.1;	uc003tqk.2	c.1785C>T	1962/9821	2	2		8	c.1785C>T	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(1783-1785)TGC>TGT	23	23			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55233035	Lung_Cancer_Familial_Clustering_of	0.567	ENSG00000146648	4882	g.chr7:55233035C>T	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	-48.633398	KEEP	4	2	-1	105	143	4	2	-1	7.300529	105	143	0.022727	1	0	0	0	0	0	0	1	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	T			EGFR_uc003tqi.2_Silent_p.C595C|EGFR_uc003tqj.2_Silent_p.C595C|EGFR_uc010kzg.1_Silent_p.C550C|EGFR_uc011kco.1_Silent_p.C542C|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA	61	GBM-06-0648-TP	p.C595C	C	TCAAGACCTGCCCGGCAGGAG	NM_005228	NP_005219	55233035	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		15	2031	+	T	T	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Silent	595			Approximate.|Extracellular (Potential).			
EGFR	1956	broad.mit.edu	GRCh37	7	55223624	55223624	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01	TCGA-06-0649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.991G>A	p.Gly331Arg	p.G331R	ENST00000275493	NM_005228.3	331	Ggg/Agg	0			1			A	G/R	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	991/3633	A|O|Mis			NSCLC	glioma|NSCLC				lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(991-993)GGG>AGG			Superfamily_domains:SSF57184,Superfamily_domains:SSF52058,PIRSF_domain:PIRSF000619,Pfam_domain:PF00757,Gene3D:3.80.20.20,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Aug									COSM2151461,COSM2151462	28-Aug	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55223624G>A	3236			MODERATE		2.695	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=177&re=338&var=G331R	getma.org/pdb.php?prot=EGFR_HUMAN&from=177&to=338&var=G331R	getma.org/?cm=var&var=hg19,7,55223624,G,A&fts=all	G331R	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.G331R|EGFR_uc003tqi.2_Missense_Mutation_p.G331R|EGFR_uc003tqj.2_Missense_Mutation_p.G331R|EGFR_uc010kzg.1_Missense_Mutation_p.G286R|EGFR_uc011kco.1_Missense_Mutation_p.G278R|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	1,1	1		probably_damaging(0.941)	p.G331R	NM_005228	NP_005219		deleterious(0.02)	1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		8	1237	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	331			Extracellular (Potential).		SNV	EGFR,missense_variant,p.Gly331Arg,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Gly278Arg,ENST00000454757,;EGFR,missense_variant,p.Gly286Arg,ENST00000455089,;EGFR,missense_variant,p.Gly331Arg,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Gly331Arg,ENST00000442591,;EGFR,missense_variant,p.Gly331Arg,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Gly331Arg,ENST00000420316,NM_201283.1;	uc003tqk.2	c.991G>A	1168/9821	2	2		8	c.991G>A	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(991-993)GGG>AGG	26	26			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55223624	Lung_Cancer_Familial_Clustering_of	0.592	ENSG00000146648	4882	g.chr7:55223624G>A	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	4.24417	KEEP	1	4	-1	19	21	1	4	-1	9.504872	19	21	0.128205	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	A			EGFR_uc003tqh.2_Missense_Mutation_p.G331R|EGFR_uc003tqi.2_Missense_Mutation_p.G331R|EGFR_uc003tqj.2_Missense_Mutation_p.G331R|EGFR_uc010kzg.1_Missense_Mutation_p.G286R|EGFR_uc011kco.1_Missense_Mutation_p.G278R|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	62	GBM-06-0649-TP	p.G331R	G	GAAGTGCGAAGGGCCTTGCCG	NM_005228	NP_005219	55223624	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		8	1237	+	A	A	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	331			Extracellular (Potential).			
EGFR	1956	broad.mit.edu	GRCh37	7	55241677	55241677	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0650-01	TCGA-06-0650-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.2125G>A	p.Glu709Lys	p.E709K	ENST00000275493	NM_005228.3	709	Gaa/Aaa	0			1			A	E/K	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	2125/3633	A|O|Mis			NSCLC	glioma|NSCLC	drug_response		p.E709K(17)|p.E709A(11)|p.E709G(7)|p.E709V(5)|p.E709_T710>D(5)|p.E709H(2)|p.E709_T710>G(1)|p.E709_T710>A(1)|p.E709fs*1(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(2125-2127)GAA>AAA			Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000619,Gene3D:1z9iA01,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		18/28	1.65E-05				0.000302				rs727504256,COSM12988	18/28	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55241677G>A	3236			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=682&re=711&var=E709K	getma.org/pdb.php?prot=EGFR_HUMAN&from=682&to=711&var=E709K	getma.org/?cm=var&var=hg19,7,55241677,G,A&fts=all	E709K	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc010kzg.1_Missense_Mutation_p.E664K|EGFR_uc011kco.1_Missense_Mutation_p.E656K	1,1	1		possibly_damaging(0.811)	p.E709K	NM_005228	NP_005219		deleterious(0.01)	0,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		18	2371	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	709		E -> K (found in a lung cancer sample).|E -> A (found in a lung cancer sample).	Cytoplasmic (Potential).		SNV	EGFR,missense_variant,p.Glu709Lys,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Glu656Lys,ENST00000454757,;EGFR,missense_variant,p.Glu664Lys,ENST00000455089,;EGFR,intron_variant,,ENST00000442591,;EGFR,downstream_gene_variant,,ENST00000344576,NM_201284.1;	uc003tqk.2	c.2125G>A	2302/9821	1	1		8	c.2125G>A	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(2125-2127)GAA>AAA	49	49		p.E709K(17)|p.E709A(11)|p.E709G(7)|p.E709V(5)|p.E709_T710>D(5)|p.E709H(2)|p.E709_T710>G(1)|p.E709_T710>A(1)|p.E709fs*1(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55241677	Lung_Cancer_Familial_Clustering_of	0.567	ENSG00000146648	4882	g.chr7:55241677G>A	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	-214.415336	KEEP	6	13	-1	484	496	6	13	-1	27.114502	484	496	0.019376	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	A			EGFR_uc010kzg.1_Missense_Mutation_p.E664K|EGFR_uc011kco.1_Missense_Mutation_p.E656K	63	GBM-06-0650-TP	p.E709K	G	GATCTTGAAGGAAACTGAATT	NM_005228	NP_005219	55241677	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		18	2371	+	A	A	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	709		E -> K (found in a lung cancer sample).|E -> A (found in a lung cancer sample).	Cytoplasmic (Potential).			
EGFR	1956	broad.mit.edu	GRCh37	7	55241708	55241708	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs121913428		TCGA-06-0650-01	TCGA-06-0650-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.2156G>A	p.Gly719Asp	p.G719D	ENST00000275493	NM_005228.3	719	gGc/gAc	0			1			A	G/D	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	2156/3633	A|O|Mis			NSCLC	glioma|NSCLC	pathogenic		p.G719S(61)|p.G719A(52)|p.G719C(31)|p.G719?(9)|p.G719D(6)|p.G719V(1)|p.G719fs*29(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(2155-2157)GGC>GAC			Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000619,SMART_domains:SM00219,Gene3D:3.30.200.20,Pfam_domain:PF07714,PROSITE_patterns:PS00107,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416,PROSITE_profiles:PS50011	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		18/28									rs121913428,COSM18425	18/28	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55241708G>A	3236			MODERATE		3.115	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=712&re=968&var=G719D	getma.org/pdb.php?prot=EGFR_HUMAN&from=712&to=968&var=G719D	getma.org/?cm=var&var=hg19,7,55241708,G,A&fts=all	G719D	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc010kzg.1_Missense_Mutation_p.G674D|EGFR_uc011kco.1_Missense_Mutation_p.G666D	1,1	1		probably_damaging(0.99)	p.G719D	NM_005228	NP_005219		deleterious(0)	0,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		18	2402	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	719		G -> A (found in a lung cancer sample).|G -> D (found in a lung cancer sample).|G -> S (found in a lung cancer sample; somatic mutation; strongly increased kinase activity).	Cytoplasmic (Potential).|Protein kinase.|ATP.		SNV	EGFR,missense_variant,p.Gly719Asp,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Gly666Asp,ENST00000454757,;EGFR,missense_variant,p.Gly674Asp,ENST00000455089,;EGFR,intron_variant,,ENST00000442591,;EGFR,downstream_gene_variant,,ENST00000344576,NM_201284.1;	uc003tqk.2	c.2156G>A	2333/9821	2	2		8	c.2156G>A	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(2155-2157)GGC>GAC	35	35		p.G719S(61)|p.G719A(52)|p.G719C(31)|p.G719?(9)|p.G719D(6)|p.G719V(1)|p.G719fs*29(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55241708	Lung_Cancer_Familial_Clustering_of	0.582	ENSG00000146648	4882	g.chr7:55241708G>A	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	-163.605498	KEEP	5	8	-1	367	376	5	8	-1	19.554241	367	376	0.018519	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	A			EGFR_uc010kzg.1_Missense_Mutation_p.G674D|EGFR_uc011kco.1_Missense_Mutation_p.G666D	63	GBM-06-0650-TP	p.G719D	G	AAAGTGCTGGGCTCCGGTGCG	NM_005228	NP_005219	55241708	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		18	2402	+	A	A	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	719		G -> A (found in a lung cancer sample).|G -> D (found in a lung cancer sample).|G -> S (found in a lung cancer sample; somatic mutation; strongly increased kinase activity).	Cytoplasmic (Potential).|Protein kinase.|ATP.			
EGFR	1956	broad.mit.edu	GRCh37	7	55223531	55223533	+	inframe_deletion	In_Frame_Del	DEL	GTG	GTG	-			TCGA-06-0650-01	TCGA-06-0650-01	GTG	GTG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.901_903del	p.Val301del	p.V301del	ENST00000275493	NM_005228.3	300	GTG/-	0			1			-	V/-	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	898-900/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.V301V(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(898-900)GTGdel			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,Gene3D:2.10.220.10,Pfam_domain:PF00757,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Aug										28-Aug	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55223531_55223533delGTG	3236	3		MODERATE								--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_In_Frame_Del_p.V301del|EGFR_uc003tqi.2_In_Frame_Del_p.V301del|EGFR_uc003tqj.2_In_Frame_Del_p.V301del|EGFR_uc010kzg.1_In_Frame_Del_p.V256del|EGFR_uc011kco.1_In_Frame_Del_p.V248del|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank		1			p.V301del	NM_005228	NP_005219				EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		8	1144_1146	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	301			Extracellular (Potential).		deletion	EGFR,inframe_deletion,p.Val301del,ENST00000275493,NM_005228.3;EGFR,inframe_deletion,p.Val248del,ENST00000454757,;EGFR,inframe_deletion,p.Val256del,ENST00000455089,;EGFR,inframe_deletion,p.Val301del,ENST00000344576,NM_201284.1;EGFR,inframe_deletion,p.Val301del,ENST00000442591,;EGFR,inframe_deletion,p.Val301del,ENST00000342916,NM_201282.1;EGFR,inframe_deletion,p.Val301del,ENST00000420316,NM_201283.1;	uc003tqk.2	c.898_900delGTG	1075-1077/9821	5	5		8	c.898_900delGTG	A|O|Mis			NSCLC	glioma|NSCLC	7	DEL	c.(898-900)GTGdel	43	43		p.V301V(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55223533	Lung_Cancer_Familial_Clustering_of	0.601	ENSG00000146648	4882	g.chr7:55223531_55223533delGTG	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608														0.01	1	1	0	1	0	0	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	-			EGFR_uc003tqh.2_In_Frame_Del_p.V301del|EGFR_uc003tqi.2_In_Frame_Del_p.V301del|EGFR_uc003tqj.2_In_Frame_Del_p.V301del|EGFR_uc010kzg.1_In_Frame_Del_p.V256del|EGFR_uc011kco.1_In_Frame_Del_p.V248del|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	63	GBM-06-0650-TP	p.V301del	GTG	AGGTAATTATGTGGTGACAGATC	NM_005228	NP_005219	55223531	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		8	1144_1146	+	-	-	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		In_Frame_Del	301			Extracellular (Potential).			
EGFR	1956	broad.mit.edu	GRCh37	7	55221822	55221822	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.866C>T	p.Ala289Val	p.A289V	ENST00000275493	NM_005228.3	289	gCc/gTc	0			1			T	A/V	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	866/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(865-867)GCC>GTC			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,Gene3D:2.10.220.10,Pfam_domain:PF00757,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Jul									rs149840192,COSM21687,COSM1559811	28-Jul	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55221822C>T	3236			MODERATE		3.06	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=177&re=338&var=A289V	getma.org/pdb.php?prot=EGFR_HUMAN&from=177&to=338&var=A289V	getma.org/?cm=var&var=hg19,7,55221822,C,T&fts=all	A289V	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	0,1,1	1		probably_damaging(0.974)	p.A289V	NM_005228	NP_005219		deleterious(0.02)	0,1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		7	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	289			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Ala289Val,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Ala236Val,ENST00000454757,;EGFR,missense_variant,p.Ala244Val,ENST00000455089,;EGFR,missense_variant,p.Ala289Val,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Ala289Val,ENST00000442591,;EGFR,missense_variant,p.Ala289Val,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Ala289Val,ENST00000420316,NM_201283.1;	uc003tqk.2	c.866C>T	1043/9821	1	1		8	c.866C>T	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(865-867)GCC>GTC	13	13		p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55221822	Lung_Cancer_Familial_Clustering_of	0.592	ENSG00000146648	4882	g.chr7:55221822C>T	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity		p.A289V(HEC6-Tumor)|p.A289D(HS683-Tumor)|p.A289V(RL952-Tumor)	608		p.A289V(HEC6-Tumor)|p.A289D(HS683-Tumor)|p.A289V(RL952-Tumor)	608	527.031514	KEEP	109	142	-1	311	438	109	142	-1	588.335648	311	438	0.232657	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	T			EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	65	GBM-06-0743-TP	p.A289V	C	AGCTTTGGTGCCACCTGCGTG	NM_005228	NP_005219	55221822	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1112	+	T	T	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	289			Approximate.|Extracellular (Potential).			
EGFR	1956	broad.mit.edu	GRCh37	7	55214352	55214352	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01	TCGA-06-0743-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.478G>A	p.Glu160Lys	p.E160K	ENST00000275493	NM_005228.3	160	Gag/Aag	0			1			A	E/K	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	478/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.V30_R297>G(5)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(478-480)GAG>AAG			Superfamily_domains:SSF52058,PIRSF_domain:PIRSF000619,Gene3D:3.80.20.20,Pfam_domain:PF01030,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Apr									COSM3412170,COSM3412171	28-Apr	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55214352G>A	3236			MODERATE		1.22	low	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=57&re=168&var=E160K	getma.org/pdb.php?prot=EGFR_HUMAN&from=57&to=168&var=E160K	getma.org/?cm=var&var=hg19,7,55214352,G,A&fts=all	E160K	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.E160K|EGFR_uc003tqi.2_Missense_Mutation_p.E160K|EGFR_uc003tqj.2_Missense_Mutation_p.E160K|EGFR_uc010kzg.1_Intron|EGFR_uc011kco.1_Missense_Mutation_p.E107K	1,1	1		benign(0.022)	p.E160K	NM_005228	NP_005219		deleterious(0.01)	1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		4	724	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	160			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Glu160Lys,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Glu107Lys,ENST00000454757,;EGFR,missense_variant,p.Glu160Lys,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Glu160Lys,ENST00000442591,;EGFR,missense_variant,p.Glu160Lys,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Glu160Lys,ENST00000420316,NM_201283.1;EGFR,missense_variant,p.Glu107Lys,ENST00000450046,;EGFR,intron_variant,,ENST00000455089,;	uc003tqk.2	c.478G>A	655/9821	1	1		8	c.478G>A	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(478-480)GAG>AAG	63	63		p.V30_R297>G(5)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55214352	Lung_Cancer_Familial_Clustering_of	0.552	ENSG00000146648	4882	g.chr7:55214352G>A	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	-201.044067	KEEP	6	11	-1	445	538	6	11	-1	22.22825	445	538	0.016568	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	A			EGFR_uc003tqh.2_Missense_Mutation_p.E160K|EGFR_uc003tqi.2_Missense_Mutation_p.E160K|EGFR_uc003tqj.2_Missense_Mutation_p.E160K|EGFR_uc010kzg.1_Intron|EGFR_uc011kco.1_Missense_Mutation_p.E107K	65	GBM-06-0743-TP	p.E160K	G	GTGCAACGTGGAGAGCATCCA	NM_005228	NP_005219	55214352	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		4	724	+	A	A	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	160			Approximate.|Extracellular (Potential).			
EGFR	1956	broad.mit.edu	GRCh37	7	55221822	55221823	+	missense_variant	Missense_Mutation	DNP	CC	CC	TT	rs149840192		TCGA-06-0747-01	TCGA-06-0747-01	CC	CC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.866_867delinsTT	p.Ala289Val	p.A289V	ENST00000275493	NM_005228.3	289	gCC/gTT	0			1			TT	A/V	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	866-867/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(865-867)GCC>GTT			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,Gene3D:2.10.220.10,Pfam_domain:PF00757,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Jul										28-Jul	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55221822_55221823CC>TT	3236			MODERATE								--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank		1		probably_damaging(0.974)	p.A289V	NM_005228	NP_005219		deleterious(0.02)		EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		7	1112_1113	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	289			Approximate.|Extracellular (Potential).		substitution	EGFR,missense_variant,p.Ala289Val,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Ala236Val,ENST00000454757,;EGFR,missense_variant,p.Ala244Val,ENST00000455089,;EGFR,missense_variant,p.Ala289Val,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Ala289Val,ENST00000442591,;EGFR,missense_variant,p.Ala289Val,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Ala289Val,ENST00000420316,NM_201283.1;	uc003tqk.2	c.866_867CC>TT	1043-1044/9821	1	1		8	c.866_867CC>TT	A|O|Mis			NSCLC	glioma|NSCLC	7	DNP	c.(865-867)GCC>GTT	13	13		p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55221823	Lung_Cancer_Familial_Clustering_of	0.594	ENSG00000146648	4882	g.chr7:55221822_55221823CC>TT	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity		p.A289V(HEC6-Tumor)|p.A289D(HS683-Tumor)|p.A289V(RL952-Tumor)	608		p.A289V(HEC6-Tumor)|p.A289D(HS683-Tumor)|p.A289V(RL952-Tumor)	608	2721.287503	KEEP	0	0	-1	0	0	0	0	-1	2806.712309	0	0	0.952147	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	TT			EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	68	GBM-06-0747-TP	p.A289V	CC	AGCTTTGGTGCCACCTGCGTGA	NM_005228	NP_005219	55221822	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1112_1113	+	TT	TT	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	289			Approximate.|Extracellular (Potential).			
EGFR	1956	broad.mit.edu	GRCh37	7	55221821	55221821	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0749-01	TCGA-06-0749-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.865G>A	p.Ala289Thr	p.A289T	ENST00000275493	NM_005228.3	289	Gcc/Acc	0			1			A	A/T	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	865/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.A289V(20)|p.V30_R297>G(5)|p.A289T(3)|p.A289D(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(865-867)GCC>ACC			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,Gene3D:2.10.220.10,Pfam_domain:PF00757,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Jul									rs769696078,COSM21686,COSM1559810	28-Jul	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55221821G>A	3236			MODERATE		2.71	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=177&re=338&var=A289T	getma.org/pdb.php?prot=EGFR_HUMAN&from=177&to=338&var=A289T	getma.org/?cm=var&var=hg19,7,55221821,G,A&fts=all	A289T	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.A289T|EGFR_uc003tqi.2_Missense_Mutation_p.A289T|EGFR_uc003tqj.2_Missense_Mutation_p.A289T|EGFR_uc010kzg.1_Missense_Mutation_p.A244T|EGFR_uc011kco.1_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	0,1,1	1		probably_damaging(0.981)	p.A289T	NM_005228	NP_005219		deleterious(0)	0,1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		7	1111	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	289			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Ala289Thr,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Ala236Thr,ENST00000454757,;EGFR,missense_variant,p.Ala244Thr,ENST00000455089,;EGFR,missense_variant,p.Ala289Thr,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Ala289Thr,ENST00000442591,;EGFR,missense_variant,p.Ala289Thr,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Ala289Thr,ENST00000420316,NM_201283.1;	uc003tqk.2	c.865G>A	1042/9821	1	1		8	c.865G>A	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(865-867)GCC>ACC	53	53		p.A289V(20)|p.V30_R297>G(5)|p.A289T(3)|p.A289D(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55221821	Lung_Cancer_Familial_Clustering_of	0.592	ENSG00000146648	4882	g.chr7:55221821G>A	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	81.290756	KEEP	20	19	-1	70	52	20	19	-1	90.453895	70	52	0.245161	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	A			EGFR_uc003tqh.2_Missense_Mutation_p.A289T|EGFR_uc003tqi.2_Missense_Mutation_p.A289T|EGFR_uc003tqj.2_Missense_Mutation_p.A289T|EGFR_uc010kzg.1_Missense_Mutation_p.A244T|EGFR_uc011kco.1_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	69	GBM-06-0749-TP	p.A289T	G	CAGCTTTGGTGCCACCTGCGT	NM_005228	NP_005219	55221821	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1111	+	A	A	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	289			Approximate.|Extracellular (Potential).			
EGFR	1956	broad.mit.edu	GRCh37	7	55249022	55249022	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0749-01	TCGA-06-0749-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.2320G>A	p.Val774Met	p.V774M	ENST00000275493	NM_005228.3	774	Gtg/Atg	0		C:0.0008	1	C:0		A	V/M	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	2320/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.H773_V774insNPH(12)|p.V774_C775insHV(4)|p.H773_V774insPH(3)|p.H773_V774insH(3)|p.V774M(3)|p.H773_V774insGH(1)|p.H773_V774insG(1)|p.H773_V774>LM(1)|p.V774L(1)|p.H773_V774insGNPH(1)|p.V774del(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(2320-2322)GTG>ATG			Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000619,SMART_domains:SM00219,Gene3D:3.30.200.20,Pfam_domain:PF07714,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416,PROSITE_profiles:PS50011,Transmembrane_helices:TMhelix	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	C:0		ENSP00000275493	C:0	20/28									rs567477136,COSM13006	20/28	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1	C:0.0002	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55249022G>A	3236			MODERATE		3.86	high	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=712&re=968&var=V774M	getma.org/pdb.php?prot=EGFR_HUMAN&from=712&to=968&var=V774M	getma.org/?cm=var&var=hg19,7,55249022,G,A&fts=all	V774M	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc010kzg.1_Missense_Mutation_p.V729M|EGFR_uc011kco.1_Missense_Mutation_p.V721M|uc003tqo.2_RNA	0,1	1		probably_damaging(0.998)	p.V774M	NM_005228	NP_005219	C:0	deleterious(0)	0,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		20	2566	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	774			Cytoplasmic (Potential).|Protein kinase.		SNV	EGFR,missense_variant,p.Val774Met,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Val721Met,ENST00000454757,;EGFR,missense_variant,p.Val729Met,ENST00000455089,;EGFR,intron_variant,,ENST00000442591,;EGFR-AS1,non_coding_transcript_exon_variant,,ENST00000442411,;	uc003tqk.2	c.2320G>A	2497/9821	2	2		8	c.2320G>A	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(2320-2322)GTG>ATG	31	31		p.H773_V774insNPH(12)|p.V774_C775insHV(4)|p.H773_V774insPH(3)|p.H773_V774insH(3)|p.V774M(3)|p.H773_V774insGH(1)|p.H773_V774insG(1)|p.H773_V774>LM(1)|p.V774L(1)|p.H773_V774insGNPH(1)|p.V774del(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55249022	Lung_Cancer_Familial_Clustering_of	0.632	ENSG00000146648	4882	g.chr7:55249022G>A	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	39.748313	KEEP	15	20	-1	123	134	15	20	-1	73.499275	123	134	0.125506	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	A			EGFR_uc010kzg.1_Missense_Mutation_p.V729M|EGFR_uc011kco.1_Missense_Mutation_p.V721M|uc003tqo.2_RNA	69	GBM-06-0749-TP	p.V774M	G	CAACCCCCACGTGTGCCGCCT	NM_005228	NP_005219	55249022	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		20	2566	+	A	A	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	774			Cytoplasmic (Potential).|Protein kinase.			
EGFR	1956	broad.mit.edu	GRCh37	7	55221821	55221822	+	missense_variant	Missense_Mutation	DNP	GC	GC	AA	rs149840192		TCGA-06-0750-01	TCGA-06-0750-01	GC	GC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.865_866delinsAA	p.Ala289Asn	p.A289N	ENST00000275493	NM_005228.3	289	GCc/AAc	0			1			AA	A/N	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	865-866/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.A289V(20)|p.V30_R297>G(5)|p.A289T(3)|p.A289D(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(865-867)GCC>AAC			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,Gene3D:2.10.220.10,Pfam_domain:PF00757,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Jul										28-Jul	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55221821_55221822GC>AA	3236			MODERATE								--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.A289N|EGFR_uc003tqi.2_Missense_Mutation_p.A289N|EGFR_uc003tqj.2_Missense_Mutation_p.A289N|EGFR_uc010kzg.1_Missense_Mutation_p.A244N|EGFR_uc011kco.1_Missense_Mutation_p.A236N|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank		1		probably_damaging(0.974)	p.A289N	NM_005228	NP_005219		deleterious(0)		EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		7	1111_1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	289			Approximate.|Extracellular (Potential).		substitution	EGFR,missense_variant,p.Ala289Asn,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Ala236Asn,ENST00000454757,;EGFR,missense_variant,p.Ala244Asn,ENST00000455089,;EGFR,missense_variant,p.Ala289Asn,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Ala289Asn,ENST00000442591,;EGFR,missense_variant,p.Ala289Asn,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Ala289Asn,ENST00000420316,NM_201283.1;	uc003tqk.2	c.865_866GC>AA	1042-1043/9821	1	1		8	c.865_866GC>AA	A|O|Mis			NSCLC	glioma|NSCLC	7	DNP	c.(865-867)GCC>AAC	53	53		p.A289V(20)|p.V30_R297>G(5)|p.A289T(3)|p.A289D(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55221822	Lung_Cancer_Familial_Clustering_of	0.589	ENSG00000146648	4882	g.chr7:55221821_55221822GC>AA	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity		p.A289V(HEC6-Tumor)|p.A289D(HS683-Tumor)|p.A289V(RL952-Tumor)	608		p.A289V(HEC6-Tumor)|p.A289D(HS683-Tumor)|p.A289V(RL952-Tumor)	608	131.340301	KEEP	0	0	-1	0	0	0	0	-1	252.840287	0	0	0.134472	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	AA			EGFR_uc003tqh.2_Missense_Mutation_p.A289N|EGFR_uc003tqi.2_Missense_Mutation_p.A289N|EGFR_uc003tqj.2_Missense_Mutation_p.A289N|EGFR_uc010kzg.1_Missense_Mutation_p.A244N|EGFR_uc011kco.1_Missense_Mutation_p.A236N|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	70	GBM-06-0750-TP	p.A289N	GC	CAGCTTTGGTGCCACCTGCGTG	NM_005228	NP_005219	55221821	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1111_1112	+	AA	AA	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	289			Approximate.|Extracellular (Potential).			
EGFR	1956	broad.mit.edu	GRCh37	7	55233037	55233037	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0750-01	TCGA-06-0750-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.1787C>G	p.Pro596Arg	p.P596R	ENST00000275493	NM_005228.3	596	cCg/cGg	0			1			G	P/R	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	1787/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.P596L(2)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(1786-1788)CCG>CGG			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,SMART_domains:SM00261,Gene3D:2.10.220.10,Pfam_domain:PF14843,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		15/28									COSM2151966,COSM2151967	15/28	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55233037C>G	3236			MODERATE		2.725	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=482&re=681&var=P596R	getma.org/pdb.php?prot=EGFR_HUMAN&from=482&to=681&var=P596R	getma.org/?cm=var&var=hg19,7,55233037,C,G&fts=all	P596R	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqi.2_Missense_Mutation_p.P596R|EGFR_uc003tqj.2_Missense_Mutation_p.P596R|EGFR_uc010kzg.1_Missense_Mutation_p.P551R|EGFR_uc011kco.1_Missense_Mutation_p.P543R|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA	1,1	1		probably_damaging(0.945)	p.P596R	NM_005228	NP_005219		deleterious(0.01)	1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		15	2033	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	596			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Pro596Arg,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Pro543Arg,ENST00000454757,;EGFR,missense_variant,p.Pro551Arg,ENST00000455089,;EGFR,missense_variant,p.Pro596Arg,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Pro596Arg,ENST00000442591,;EGFR,missense_variant,p.Pro596Arg,ENST00000342916,NM_201282.1;	uc003tqk.2	c.1787C>G	1964/9821	3	3		8	c.1787C>G	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(1786-1788)CCG>CGG	10	10		p.P596L(2)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55233037	Lung_Cancer_Familial_Clustering_of	0.567	ENSG00000146648	4882	g.chr7:55233037C>G	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	569.040334	KEEP	113	133	-1	370	384	113	133	-1	625.789728	370	384	0.239651	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	G			EGFR_uc003tqi.2_Missense_Mutation_p.P596R|EGFR_uc003tqj.2_Missense_Mutation_p.P596R|EGFR_uc010kzg.1_Missense_Mutation_p.P551R|EGFR_uc011kco.1_Missense_Mutation_p.P543R|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA	70	GBM-06-0750-TP	p.P596R	C	AAGACCTGCCCGGCAGGAGTC	NM_005228	NP_005219	55233037	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		15	2033	+	G	G	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	596			Approximate.|Extracellular (Potential).			
EGFR	1956	broad.mit.edu	GRCh37	7	55211080	55211080	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01	TCGA-06-0876-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.323G>A	p.Arg108Lys	p.R108K	ENST00000275493	NM_005228.3	108	aGa/aAa	0			1			A	R/K	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	323/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.R108K(7)|p.V30_R297>G(5)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(322-324)AGA>AAA			Superfamily_domains:SSF52058,PIRSF_domain:PIRSF000619,Gene3D:3.80.20.20,Pfam_domain:PF01030,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Mar									COSM21683,COSM1559806	28-Mar	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55211080G>A	3236			MODERATE		2.965	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=57&re=168&var=R108K	getma.org/pdb.php?prot=EGFR_HUMAN&from=57&to=168&var=R108K	getma.org/?cm=var&var=hg19,7,55211080,G,A&fts=all	R108K	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.R108K|EGFR_uc003tqi.2_Missense_Mutation_p.R108K|EGFR_uc003tqj.2_Missense_Mutation_p.R108K|EGFR_uc010kzg.1_Missense_Mutation_p.R108K|EGFR_uc011kco.1_Missense_Mutation_p.R55K	1,1	1		probably_damaging(0.998)	p.R108K	NM_005228	NP_005219		deleterious(0)	1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		3	569	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	108			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Arg108Lys,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Arg55Lys,ENST00000454757,;EGFR,missense_variant,p.Arg108Lys,ENST00000455089,;EGFR,missense_variant,p.Arg108Lys,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Arg108Lys,ENST00000442591,;EGFR,missense_variant,p.Arg108Lys,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Arg108Lys,ENST00000420316,NM_201283.1;EGFR,missense_variant,p.Arg55Lys,ENST00000450046,;	uc003tqk.2	c.323G>A	500/9821	1	1		8	c.323G>A	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(322-324)AGA>AAA	50	50		p.R108K(7)|p.V30_R297>G(5)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55211080	Lung_Cancer_Familial_Clustering_of	0.423	ENSG00000146648	4882	g.chr7:55211080G>A	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	838.081723	KEEP	205	103	-1	416	275	205	103	-1	870.39798	416	275	0.307377	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	A			EGFR_uc003tqh.2_Missense_Mutation_p.R108K|EGFR_uc003tqi.2_Missense_Mutation_p.R108K|EGFR_uc003tqj.2_Missense_Mutation_p.R108K|EGFR_uc010kzg.1_Missense_Mutation_p.R108K|EGFR_uc011kco.1_Missense_Mutation_p.R55K	72	GBM-06-0876-TP	p.R108K	G	CAGATCATCAGAGGAAATATG	NM_005228	NP_005219	55211080	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		3	569	+	A	A	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	108			Approximate.|Extracellular (Potential).			
EGFR	1956	broad.mit.edu	GRCh37	7	55221781	55221781	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0878-01	TCGA-06-0878-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.825C>T	p.Tyr275=	p.Y275=	ENST00000275493	NM_005228.3	275	taC/taT	0			1			T	Y	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	825/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.V30_R297>G(5)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(823-825)TAC>TAT			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,Gene3D:2.10.220.10,Pfam_domain:PF00757,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Jul									COSM2152264,COSM2152265	28-Jul	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55221781C>T	3236			LOW								--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Silent_p.Y275Y|EGFR_uc003tqi.2_Silent_p.Y275Y|EGFR_uc003tqj.2_Silent_p.Y275Y|EGFR_uc010kzg.1_Silent_p.Y230Y|EGFR_uc011kco.1_Silent_p.Y222Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	1,1	1			p.Y275Y	NM_005228	NP_005219			1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		7	1071	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	275	Y->A: Strongly reduced autophosphorylation and activation of down-stream kinases; when associated with A-309.		Approximate.|Extracellular (Potential).		SNV	EGFR,synonymous_variant,p.=,ENST00000275493,NM_005228.3;EGFR,synonymous_variant,p.=,ENST00000454757,;EGFR,synonymous_variant,p.=,ENST00000455089,;EGFR,synonymous_variant,p.=,ENST00000344576,NM_201284.1;EGFR,synonymous_variant,p.=,ENST00000442591,;EGFR,synonymous_variant,p.=,ENST00000342916,NM_201282.1;EGFR,synonymous_variant,p.=,ENST00000420316,NM_201283.1;	uc003tqk.2	c.825C>T	1002/9821	2	2		8	c.825C>T	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(823-825)TAC>TAT	31	31		p.V30_R297>G(5)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55221781	Lung_Cancer_Familial_Clustering_of	0.587	ENSG00000146648	4882	g.chr7:55221781C>T	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	534.586433	KEEP	144	170	-1	314	371	144	170	-1	587.090426	314	371	0.246377	1	0	0	0	0	0	0	1	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	T			EGFR_uc003tqh.2_Silent_p.Y275Y|EGFR_uc003tqi.2_Silent_p.Y275Y|EGFR_uc003tqj.2_Silent_p.Y275Y|EGFR_uc010kzg.1_Silent_p.Y230Y|EGFR_uc011kco.1_Silent_p.Y222Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	74	GBM-06-0878-TP	p.Y275Y	C	CCACCACGTACCAGATGGATG	NM_005228	NP_005219	55221781	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1071	+	T	T	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Silent	275	Y->A: Strongly reduced autophosphorylation and activation of down-stream kinases; when associated with A-309.		Approximate.|Extracellular (Potential).			
EGFR	1956	broad.mit.edu	GRCh37	7	55221796	55221796	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0878-01	TCGA-06-0878-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.840C>T	p.Asn280=	p.N280=	ENST00000275493	NM_005228.3	280	aaC/aaT	0			1			T	N	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	840/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.V30_R297>G(5)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(838-840)AAC>AAT			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,Gene3D:2.10.220.10,Pfam_domain:PF00757,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Jul									COSM2152230,COSM2152231	28-Jul	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55221796C>T	3236			LOW								--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Silent_p.N280N|EGFR_uc003tqi.2_Silent_p.N280N|EGFR_uc003tqj.2_Silent_p.N280N|EGFR_uc010kzg.1_Silent_p.N235N|EGFR_uc011kco.1_Silent_p.N227N|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	1,1	1			p.N280N	NM_005228	NP_005219			1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		7	1086	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	280			Approximate.|Extracellular (Potential).		SNV	EGFR,synonymous_variant,p.=,ENST00000275493,NM_005228.3;EGFR,synonymous_variant,p.=,ENST00000454757,;EGFR,synonymous_variant,p.=,ENST00000455089,;EGFR,synonymous_variant,p.=,ENST00000344576,NM_201284.1;EGFR,synonymous_variant,p.=,ENST00000442591,;EGFR,synonymous_variant,p.=,ENST00000342916,NM_201282.1;EGFR,synonymous_variant,p.=,ENST00000420316,NM_201283.1;	uc003tqk.2	c.840C>T	1017/9821	2	2		8	c.840C>T	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(838-840)AAC>AAT	18	18		p.V30_R297>G(5)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55221796	Lung_Cancer_Familial_Clustering_of	0.587	ENSG00000146648	4882	g.chr7:55221796C>T	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	579.547336	KEEP	136	156	-1	320	388	136	156	-1	627.245287	320	388	0.260109	1	0	0	0	0	0	0	1	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	T			EGFR_uc003tqh.2_Silent_p.N280N|EGFR_uc003tqi.2_Silent_p.N280N|EGFR_uc003tqj.2_Silent_p.N280N|EGFR_uc010kzg.1_Silent_p.N235N|EGFR_uc011kco.1_Silent_p.N227N|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	74	GBM-06-0878-TP	p.N280N	C	TGGATGTGAACCCCGAGGGCA	NM_005228	NP_005219	55221796	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1086	+	T	T	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Silent	280			Approximate.|Extracellular (Potential).			
EGFR	1956	broad.mit.edu	GRCh37	7	55221821	55221822	+	missense_variant	Missense_Mutation	DNP	GC	GC	AT	rs149840192		TCGA-06-0878-01	TCGA-06-0878-01	GC	GC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.865_866delinsAT	p.Ala289Ile	p.A289I	ENST00000275493	NM_005228.3	289	GCc/ATc	0			1			AT	A/I	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	865-866/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.A289V(20)|p.V30_R297>G(5)|p.A289T(3)|p.A289D(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(865-867)GCC>ATC			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,Gene3D:2.10.220.10,Pfam_domain:PF00757,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Jul										28-Jul	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55221821_55221822GC>AT	3236			MODERATE								--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.A289I|EGFR_uc003tqi.2_Missense_Mutation_p.A289I|EGFR_uc003tqj.2_Missense_Mutation_p.A289I|EGFR_uc010kzg.1_Missense_Mutation_p.A244I|EGFR_uc011kco.1_Missense_Mutation_p.A236I|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank		1		probably_damaging(0.998)	p.A289I	NM_005228	NP_005219		deleterious(0)		EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		7	1111_1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	289			Approximate.|Extracellular (Potential).		substitution	EGFR,missense_variant,p.Ala289Ile,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Ala236Ile,ENST00000454757,;EGFR,missense_variant,p.Ala244Ile,ENST00000455089,;EGFR,missense_variant,p.Ala289Ile,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Ala289Ile,ENST00000442591,;EGFR,missense_variant,p.Ala289Ile,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Ala289Ile,ENST00000420316,NM_201283.1;	uc003tqk.2	c.865_866GC>AT	1042-1043/9821	1	1		8	c.865_866GC>AT	A|O|Mis			NSCLC	glioma|NSCLC	7	DNP	c.(865-867)GCC>ATC	53	53		p.A289V(20)|p.V30_R297>G(5)|p.A289T(3)|p.A289D(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55221822	Lung_Cancer_Familial_Clustering_of	0.589	ENSG00000146648	4882	g.chr7:55221821_55221822GC>AT	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity		p.A289V(HEC6-Tumor)|p.A289D(HS683-Tumor)|p.A289V(RL952-Tumor)	608		p.A289V(HEC6-Tumor)|p.A289D(HS683-Tumor)|p.A289V(RL952-Tumor)	608	-195.440388	KEEP	0	0	-1	0	0	0	0	-1	30.9842	0	0	0.026316	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	AT			EGFR_uc003tqh.2_Missense_Mutation_p.A289I|EGFR_uc003tqi.2_Missense_Mutation_p.A289I|EGFR_uc003tqj.2_Missense_Mutation_p.A289I|EGFR_uc010kzg.1_Missense_Mutation_p.A244I|EGFR_uc011kco.1_Missense_Mutation_p.A236I|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	74	GBM-06-0878-TP	p.A289I	GC	CAGCTTTGGTGCCACCTGCGTG	NM_005228	NP_005219	55221821	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1111_1112	+	AT	AT	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	289			Approximate.|Extracellular (Potential).			
EGFR	1956	broad.mit.edu	GRCh37	7	55249010	55249011	+	inframe_insertion	In_Frame_Ins	INS	-	-	ACAACCCCC			TCGA-06-0879-01	TCGA-06-0879-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.2311_2319dup	p.Asn771_His773dup	p.N771_H773dup	ENST00000275493	NM_005228.3	771	gac/gACAACCCCCac	0			1			ACAACCCCC	D/DNPH	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	2308-2309/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.H773_V774insNPH(12)|p.V769_D770insASV(12)|p.P772_H773insPR(11)|p.H773R(9)|p.H773_V774insPH(3)|p.H773_V774insH(3)|p.P772_H773insYNP(2)|p.P772_H773insX(2)|p.D770>GY(2)|p.H773Y(2)|p.V769_D770insMASVD(2)|p.V769_D770insGVV(2)|p.H773_V774insGH(1)|p.V769_D770insCV(1)|p.H773_V774insG(1)|p.D770N(1)|p.H773_V774insGNPH(1)|p.D770fs*61(1)|p.D770_P772>ASVDNR(1)|p.H773L(1)|p.V769_D770insGSV(1)|p.V769_D770insDNV(1)|p.P772_H773insDHP(1)|p.P772_H773insTHP(1)|p.P772_H773insDNP(1)|p.H773>NPY(1)|p.P772_H773insQV(1)|p.D770_N771insDG(1)|p.H773_V774>LM(1)|p.D770_N771>AGG(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(2308-2310)GAC>GACAACCCCCAC			Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000619,SMART_domains:SM00219,Gene3D:3.30.200.20,Pfam_domain:PF07714,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416,PROSITE_profiles:PS50011	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		20/28										20/28	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55249010_55249011insACAACCCCC	3236	11		MODERATE								--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc010kzg.1_In_Frame_Ins_p.728_729insNPH|EGFR_uc011kco.1_In_Frame_Ins_p.720_721insNPH|uc003tqo.2_RNA		1			p.773_774insNPH	NM_005228	NP_005219				EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		20	2554_2555	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	773_774			Cytoplasmic (Potential).|Protein kinase.		insertion	EGFR,inframe_insertion,p.Asn771_His773dup,ENST00000275493,NM_005228.3;EGFR,inframe_insertion,p.Asn718_His720dup,ENST00000454757,;EGFR,inframe_insertion,p.Asn726_His728dup,ENST00000455089,;EGFR,intron_variant,,ENST00000442591,;EGFR-AS1,non_coding_transcript_exon_variant,,ENST00000442411,;	uc003tqk.2	c.2308_2309insACAACCCCC	2485-2486/9821	5	5		8	c.2308_2309insACAACCCCC	A|O|Mis			NSCLC	glioma|NSCLC	7	INS	c.(2308-2310)GAC>GACAACCCCCAC	13	13		p.H773_V774insNPH(12)|p.V769_D770insASV(12)|p.P772_H773insPR(11)|p.H773R(9)|p.H773_V774insPH(3)|p.H773_V774insH(3)|p.P772_H773insYNP(2)|p.P772_H773insX(2)|p.D770>GY(2)|p.H773Y(2)|p.V769_D770insMASVD(2)|p.V769_D770insGVV(2)|p.H773_V774insGH(1)|p.V769_D770insCV(1)|p.H773_V774insG(1)|p.D770N(1)|p.H773_V774insGNPH(1)|p.D770fs*61(1)|p.D770_P772>ASVDNR(1)|p.H773L(1)|p.V769_D770insGSV(1)|p.V769_D770insDNV(1)|p.P772_H773insDHP(1)|p.P772_H773insTHP(1)|p.P772_H773insDNP(1)|p.H773>NPY(1)|p.P772_H773insQV(1)|p.D770_N771insDG(1)|p.H773_V774>LM(1)|p.D770_N771>AGG(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55249011	Lung_Cancer_Familial_Clustering_of	0.649	ENSG00000146648	4882	g.chr7:55249010_55249011insACAACCCCC	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608														0.06	1	0	0	1	1	0	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	ACAACCCCC			EGFR_uc010kzg.1_In_Frame_Ins_p.728_729insNPH|EGFR_uc011kco.1_In_Frame_Ins_p.720_721insNPH|uc003tqo.2_RNA	75	GBM-06-0879-TP	p.773_774insNPH	-	GGCCAGCGTGGACAACCCCCAC	NM_005228	NP_005219	55249010	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		20	2554_2555	+	ACAACCCCC	ACAACCCCC	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		In_Frame_Ins	773_774			Cytoplasmic (Potential).|Protein kinase.			
EGFR	1956	broad.mit.edu	GRCh37	7	55221822	55221822	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-06-0881-01	TCGA-06-0881-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.866C>T	p.Ala289Val	p.A289V	ENST00000275493	NM_005228.3	289	gCc/gTc	0			1			T	A/V	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	866/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(865-867)GCC>GTC			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,Gene3D:2.10.220.10,Pfam_domain:PF00757,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Jul									rs149840192,COSM21687,COSM1559811	28-Jul	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55221822C>T	3236			MODERATE		3.06	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=177&re=338&var=A289V	getma.org/pdb.php?prot=EGFR_HUMAN&from=177&to=338&var=A289V	getma.org/?cm=var&var=hg19,7,55221822,C,T&fts=all	A289V	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	0,1,1	1		probably_damaging(0.974)	p.A289V	NM_005228	NP_005219		deleterious(0.02)	0,1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		7	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	289			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Ala289Val,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Ala236Val,ENST00000454757,;EGFR,missense_variant,p.Ala244Val,ENST00000455089,;EGFR,missense_variant,p.Ala289Val,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Ala289Val,ENST00000442591,;EGFR,missense_variant,p.Ala289Val,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Ala289Val,ENST00000420316,NM_201283.1;	uc003tqk.2	c.866C>T	1043/9821	1	1		8	c.866C>T	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(865-867)GCC>GTC	13	13		p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55221822	Lung_Cancer_Familial_Clustering_of	0.592	ENSG00000146648	4882	g.chr7:55221822C>T	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity		p.A289V(HEC6-Tumor)|p.A289D(HS683-Tumor)|p.A289V(RL952-Tumor)	608		p.A289V(HEC6-Tumor)|p.A289D(HS683-Tumor)|p.A289V(RL952-Tumor)	608	174.088231	KEEP	49	44	-1	228	205	49	44	-1	223.716106	228	205	0.173737	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	T			EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	76	GBM-06-0881-TP	p.A289V	C	AGCTTTGGTGCCACCTGCGTG	NM_005228	NP_005219	55221822	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1112	+	T	T	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	289			Approximate.|Extracellular (Potential).			
EGFR	1956	broad.mit.edu	GRCh37	7	55221722	55221722	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-1804-01	TCGA-06-1804-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.766G>T	p.Asp256Tyr	p.D256Y	ENST00000275493	NM_005228.3	256	Gac/Tac	0			1			T	D/Y	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	766/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.V30_R297>G(5)|p.D256A(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(766-768)GAC>TAC			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,SMART_domains:SM00261,Pfam_domain:PF00757,Gene3D:2.10.220.10,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Jul									COSM3412180,COSM3412181	28-Jul	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55221722G>T	3236			MODERATE		1.525	low	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=177&re=338&var=D256Y	getma.org/pdb.php?prot=EGFR_HUMAN&from=177&to=338&var=D256Y	getma.org/?cm=var&var=hg19,7,55221722,G,T&fts=all	D256Y	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.D256Y|EGFR_uc003tqi.2_Missense_Mutation_p.D256Y|EGFR_uc003tqj.2_Missense_Mutation_p.D256Y|EGFR_uc010kzg.1_Missense_Mutation_p.D211Y|EGFR_uc011kco.1_Missense_Mutation_p.D203Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	1,1	1		probably_damaging(1)	p.D256Y	NM_005228	NP_005219		deleterious(0)	1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		7	1012	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	256			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Asp256Tyr,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Asp203Tyr,ENST00000454757,;EGFR,missense_variant,p.Asp211Tyr,ENST00000455089,;EGFR,missense_variant,p.Asp256Tyr,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Asp256Tyr,ENST00000442591,;EGFR,missense_variant,p.Asp256Tyr,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Asp256Tyr,ENST00000420316,NM_201283.1;	uc003tqk.2	c.766G>T	943/9821	1	1		8	c.766G>T	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(766-768)GAC>TAC	7	7		p.V30_R297>G(5)|p.D256A(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55221722	Lung_Cancer_Familial_Clustering_of	0.582	ENSG00000146648	4882	g.chr7:55221722G>T	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	34.074901	KEEP	17	12	0.586206897	74	88	17	12	0.586206897	54.743476	74	88	0.142857	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	T			EGFR_uc003tqh.2_Missense_Mutation_p.D256Y|EGFR_uc003tqi.2_Missense_Mutation_p.D256Y|EGFR_uc003tqj.2_Missense_Mutation_p.D256Y|EGFR_uc010kzg.1_Missense_Mutation_p.D211Y|EGFR_uc011kco.1_Missense_Mutation_p.D203Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	79	GBM-06-1804-TP	p.D256Y	G	CAAATTCCGAGACGAAGCCAC	NM_005228	NP_005219	55221722	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1012	+	T	T	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	256			Approximate.|Extracellular (Potential).			
EGFR	1956	broad.mit.edu	GRCh37	7	55221821	55221821	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01	TCGA-06-2557-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.865G>A	p.Ala289Thr	p.A289T	ENST00000275493	NM_005228.3	289	Gcc/Acc	0			1			A	A/T	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	865/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.A289V(20)|p.V30_R297>G(5)|p.A289T(3)|p.A289D(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(865-867)GCC>ACC			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,Gene3D:2.10.220.10,Pfam_domain:PF00757,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Jul									rs769696078,COSM21686,COSM1559810	28-Jul	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55221821G>A	3236			MODERATE		2.71	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=177&re=338&var=A289T	getma.org/pdb.php?prot=EGFR_HUMAN&from=177&to=338&var=A289T	getma.org/?cm=var&var=hg19,7,55221821,G,A&fts=all	A289T	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.A289T|EGFR_uc003tqi.2_Missense_Mutation_p.A289T|EGFR_uc003tqj.2_Missense_Mutation_p.A289T|EGFR_uc010kzg.1_Missense_Mutation_p.A244T|EGFR_uc011kco.1_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	0,1,1	1		probably_damaging(0.981)	p.A289T	NM_005228	NP_005219		deleterious(0)	0,1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		7	1111	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	289			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Ala289Thr,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Ala236Thr,ENST00000454757,;EGFR,missense_variant,p.Ala244Thr,ENST00000455089,;EGFR,missense_variant,p.Ala289Thr,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Ala289Thr,ENST00000442591,;EGFR,missense_variant,p.Ala289Thr,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Ala289Thr,ENST00000420316,NM_201283.1;	uc003tqk.2	c.865G>A	1042/9821	1	1		8	c.865G>A	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(865-867)GCC>ACC	53	53		p.A289V(20)|p.V30_R297>G(5)|p.A289T(3)|p.A289D(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55221821	Lung_Cancer_Familial_Clustering_of	0.592	ENSG00000146648	4882	g.chr7:55221821G>A	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	-240.185256	KEEP	8	4	-1	498	489	8	4	-1	14.22888	498	489	0.013771	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	A			EGFR_uc003tqh.2_Missense_Mutation_p.A289T|EGFR_uc003tqi.2_Missense_Mutation_p.A289T|EGFR_uc003tqj.2_Missense_Mutation_p.A289T|EGFR_uc010kzg.1_Missense_Mutation_p.A244T|EGFR_uc011kco.1_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	81	GBM-06-2557-TP	p.A289T	G	CAGCTTTGGTGCCACCTGCGT	NM_005228	NP_005219	55221821	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1111	+	A	A	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	289			Approximate.|Extracellular (Potential).			
EGFR	1956	broad.mit.edu	GRCh37	7	55214319	55214319	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2561-01	TCGA-06-2561-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.445C>T	p.Arg149Trp	p.R149W	ENST00000275493	NM_005228.3	149	Cgg/Tgg	0			1			T	R/W	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	445/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.V30_R297>G(5)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(445-447)CGG>TGG			Superfamily_domains:SSF52058,PIRSF_domain:PIRSF000619,Gene3D:3.80.20.20,Pfam_domain:PF01030,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Apr	8.24E-06			0.000116					rs774146556,COSM3412168,COSM3412169	28-Apr	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55214319C>T	3236			MODERATE		2.99	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=57&re=168&var=R149W	getma.org/pdb.php?prot=EGFR_HUMAN&from=57&to=168&var=R149W	getma.org/?cm=var&var=hg19,7,55214319,C,T&fts=all	R149W	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.R149W|EGFR_uc003tqi.2_Missense_Mutation_p.R149W|EGFR_uc003tqj.2_Missense_Mutation_p.R149W|EGFR_uc010kzg.1_Intron|EGFR_uc011kco.1_Missense_Mutation_p.R96W	0,1,1	1		probably_damaging(0.976)	p.R149W	NM_005228	NP_005219		tolerated(0.13)	0,1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		4	691	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	149			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Arg149Trp,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Arg96Trp,ENST00000454757,;EGFR,missense_variant,p.Arg149Trp,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Arg149Trp,ENST00000442591,;EGFR,missense_variant,p.Arg149Trp,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Arg149Trp,ENST00000420316,NM_201283.1;EGFR,missense_variant,p.Arg96Trp,ENST00000450046,;EGFR,intron_variant,,ENST00000455089,;	uc003tqk.2	c.445C>T	622/9821	2	2		8	c.445C>T	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(445-447)CGG>TGG	35	35		p.V30_R297>G(5)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55214319	Lung_Cancer_Familial_Clustering_of	0.532	ENSG00000146648	4882	g.chr7:55214319C>T	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	6.053967	KEEP	3	7	-1	51	42	3	7	-1	20.3998	51	42	0.1	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	T			EGFR_uc003tqh.2_Missense_Mutation_p.R149W|EGFR_uc003tqi.2_Missense_Mutation_p.R149W|EGFR_uc003tqj.2_Missense_Mutation_p.R149W|EGFR_uc010kzg.1_Intron|EGFR_uc011kco.1_Missense_Mutation_p.R96W	84	GBM-06-2561-TP	p.R149W	C	TGGCGCCGTGCGGTTCAGCAA	NM_005228	NP_005219	55214319	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		4	691	+	T	T	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	149			Approximate.|Extracellular (Potential).			
EGFR	1956	broad.mit.edu	GRCh37	7	55221710	55221710	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01	TCGA-06-2563-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.754C>T	p.Arg252Cys	p.R252C	ENST00000275493	NM_005228.3	252	Cgc/Tgc	0			1			T	R/C	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	754/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.V30_R297>G(5)|p.R252C(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(754-756)CGC>TGC			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,SMART_domains:SM00261,Pfam_domain:PF00757,Gene3D:2.10.220.10,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Jul									COSM35752,COSM1559807	28-Jul	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55221710C>T	3236			MODERATE		3.33	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=177&re=338&var=R252C	getma.org/pdb.php?prot=EGFR_HUMAN&from=177&to=338&var=R252C	getma.org/?cm=var&var=hg19,7,55221710,C,T&fts=all	R252C	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.R252C|EGFR_uc003tqi.2_Missense_Mutation_p.R252C|EGFR_uc003tqj.2_Missense_Mutation_p.R252C|EGFR_uc010kzg.1_Missense_Mutation_p.R207C|EGFR_uc011kco.1_Missense_Mutation_p.R199C|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	1,1	1		possibly_damaging(0.899)	p.R252C	NM_005228	NP_005219		deleterious(0.03)	1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		7	1000	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	252			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Arg252Cys,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Arg199Cys,ENST00000454757,;EGFR,missense_variant,p.Arg207Cys,ENST00000455089,;EGFR,missense_variant,p.Arg252Cys,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Arg252Cys,ENST00000442591,;EGFR,missense_variant,p.Arg252Cys,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Arg252Cys,ENST00000420316,NM_201283.1;	uc003tqk.2	c.754C>T	931/9821	2	2		8	c.754C>T	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(754-756)CGC>TGC	35	35		p.V30_R297>G(5)|p.R252C(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55221710	Lung_Cancer_Familial_Clustering_of	0.582	ENSG00000146648	4882	g.chr7:55221710C>T	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	3191.460412	KEEP	446	490	-1	24	38	446	490	-1	3287.619207	24	38	0.948913	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	T			EGFR_uc003tqh.2_Missense_Mutation_p.R252C|EGFR_uc003tqi.2_Missense_Mutation_p.R252C|EGFR_uc003tqj.2_Missense_Mutation_p.R252C|EGFR_uc010kzg.1_Missense_Mutation_p.R207C|EGFR_uc011kco.1_Missense_Mutation_p.R199C|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	86	GBM-06-2563-TP	p.R252C	C	ATAGGTCTGCCGCAAATTCCG	NM_005228	NP_005219	55221710	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1000	+	T	T	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	252			Approximate.|Extracellular (Potential).			
EGFR	1956	broad.mit.edu	GRCh37	7	55211080	55211080	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01	TCGA-06-2565-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.323G>A	p.Arg108Lys	p.R108K	ENST00000275493	NM_005228.3	108	aGa/aAa	0			1			A	R/K	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	323/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.R108K(7)|p.V30_R297>G(5)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(322-324)AGA>AAA			Superfamily_domains:SSF52058,PIRSF_domain:PIRSF000619,Gene3D:3.80.20.20,Pfam_domain:PF01030,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Mar									COSM21683,COSM1559806	28-Mar	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55211080G>A	3236			MODERATE		2.965	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=57&re=168&var=R108K	getma.org/pdb.php?prot=EGFR_HUMAN&from=57&to=168&var=R108K	getma.org/?cm=var&var=hg19,7,55211080,G,A&fts=all	R108K	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.R108K|EGFR_uc003tqi.2_Missense_Mutation_p.R108K|EGFR_uc003tqj.2_Missense_Mutation_p.R108K|EGFR_uc010kzg.1_Missense_Mutation_p.R108K|EGFR_uc011kco.1_Missense_Mutation_p.R55K	1,1	1		probably_damaging(0.998)	p.R108K	NM_005228	NP_005219		deleterious(0)	1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		3	569	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	108			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Arg108Lys,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Arg55Lys,ENST00000454757,;EGFR,missense_variant,p.Arg108Lys,ENST00000455089,;EGFR,missense_variant,p.Arg108Lys,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Arg108Lys,ENST00000442591,;EGFR,missense_variant,p.Arg108Lys,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Arg108Lys,ENST00000420316,NM_201283.1;EGFR,missense_variant,p.Arg55Lys,ENST00000450046,;	uc003tqk.2	c.323G>A	500/9821	1	1		8	c.323G>A	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(322-324)AGA>AAA	50	50		p.R108K(7)|p.V30_R297>G(5)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55211080	Lung_Cancer_Familial_Clustering_of	0.423	ENSG00000146648	4882	g.chr7:55211080G>A	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	3451.924738	KEEP	468	475	-1	33	23	468	475	-1	3572.925646	33	23	0.952965	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	A			EGFR_uc003tqh.2_Missense_Mutation_p.R108K|EGFR_uc003tqi.2_Missense_Mutation_p.R108K|EGFR_uc003tqj.2_Missense_Mutation_p.R108K|EGFR_uc010kzg.1_Missense_Mutation_p.R108K|EGFR_uc011kco.1_Missense_Mutation_p.R55K	88	GBM-06-2565-TP	p.R108K	G	CAGATCATCAGAGGAAATATG	NM_005228	NP_005219	55211080	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		3	569	+	A	A	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	108			Approximate.|Extracellular (Potential).			
EGFR	1956	broad.mit.edu	GRCh37	7	55233036	55233036	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01	TCGA-06-2567-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.1786C>T	p.Pro596Ser	p.P596S	ENST00000275493	NM_005228.3	596	Ccg/Tcg	0			1			T	P/S	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	1786/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.P596L(2)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(1786-1788)CCG>TCG			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,SMART_domains:SM00261,Gene3D:2.10.220.10,Pfam_domain:PF14843,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		15/28									COSM3412194,COSM3412195	15/28	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55233036C>T	3236			MODERATE		2.145	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=482&re=681&var=P596S	getma.org/pdb.php?prot=EGFR_HUMAN&from=482&to=681&var=P596S	getma.org/?cm=var&var=hg19,7,55233036,C,T&fts=all	P596S	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqi.2_Missense_Mutation_p.P596S|EGFR_uc003tqj.2_Missense_Mutation_p.P596S|EGFR_uc010kzg.1_Missense_Mutation_p.P551S|EGFR_uc011kco.1_Missense_Mutation_p.P543S|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA	1,1	1		possibly_damaging(0.732)	p.P596S	NM_005228	NP_005219		deleterious(0)	1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		15	2032	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	596			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Pro596Ser,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Pro543Ser,ENST00000454757,;EGFR,missense_variant,p.Pro551Ser,ENST00000455089,;EGFR,missense_variant,p.Pro596Ser,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Pro596Ser,ENST00000442591,;EGFR,missense_variant,p.Pro596Ser,ENST00000342916,NM_201282.1;	uc003tqk.2	c.1786C>T	1963/9821	2	2		8	c.1786C>T	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(1786-1788)CCG>TCG	37	37		p.P596L(2)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55233036	Lung_Cancer_Familial_Clustering_of	0.567	ENSG00000146648	4882	g.chr7:55233036C>T	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	-35.155908	KEEP	5	8	-1	132	146	5	8	-1	21.059154	132	146	0.043651	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	T			EGFR_uc003tqi.2_Missense_Mutation_p.P596S|EGFR_uc003tqj.2_Missense_Mutation_p.P596S|EGFR_uc010kzg.1_Missense_Mutation_p.P551S|EGFR_uc011kco.1_Missense_Mutation_p.P543S|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA	89	GBM-06-2567-TP	p.P596S	C	CAAGACCTGCCCGGCAGGAGT	NM_005228	NP_005219	55233036	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		15	2032	+	T	T	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	596			Approximate.|Extracellular (Potential).			
EGFR	1956	broad.mit.edu	GRCh37	7	55259469	55259469	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs146795390		TCGA-06-5413-01	TCGA-06-5413-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.2527G>C	p.Val843Leu	p.V843L	ENST00000275493	NM_005228.3	843	Gta/Cta	0			1			C	V/L	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	2527/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.V843I(6)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(2527-2529)GTA>CTA			Prints_domain:PR00109,Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000619,SMART_domains:SM00219,Pfam_domain:PF07714,Gene3D:1.10.510.10,PROSITE_patterns:PS00109,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416,PROSITE_profiles:PS50011	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		21/28									COSM3412202	21/28	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55259469G>C	3236			MODERATE		1.765	low	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=712&re=968&var=V843L	getma.org/pdb.php?prot=EGFR_HUMAN&from=712&to=968&var=V843L	getma.org/?cm=var&var=hg19,7,55259469,G,C&fts=all	V843L	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc010kzg.1_Missense_Mutation_p.V798L|EGFR_uc011kco.1_Missense_Mutation_p.V790L|uc003tqo.2_5'Flank	1	1		possibly_damaging(0.904)	p.V843L	NM_005228	NP_005219		deleterious(0)	1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		21	2773	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	843			Cytoplasmic (Potential).|Protein kinase.		SNV	EGFR,missense_variant,p.Val843Leu,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Val790Leu,ENST00000454757,;EGFR,missense_variant,p.Val798Leu,ENST00000455089,;EGFR,intron_variant,,ENST00000442591,;EGFR-AS1,upstream_gene_variant,,ENST00000442411,;EGFR,upstream_gene_variant,,ENST00000485503,;	uc003tqk.2	c.2527G>C	2704/9821	3	3		8	c.2527G>C	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(2527-2529)GTA>CTA	6	6		p.V843I(6)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55259469	Lung_Cancer_Familial_Clustering_of	0.537	ENSG00000146648	4882	g.chr7:55259469G>C	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	-222.720485	KEEP	4	9	-1	451	534	4	9	-1	29.076749	451	534	0.016771	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	C			EGFR_uc010kzg.1_Missense_Mutation_p.V798L|EGFR_uc011kco.1_Missense_Mutation_p.V790L|uc003tqo.2_5'Flank	96	GBM-06-5413-TP	p.V843L	G	AGCCAGGAACGTACTGGTGAA	NM_005228	NP_005219	55259469	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		21	2773	+	C	C	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	843			Cytoplasmic (Potential).|Protein kinase.			
EGFR	1956	broad.mit.edu	GRCh37	7	55221822	55221822	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-06-5856-01	TCGA-06-5856-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.866C>T	p.Ala289Val	p.A289V	ENST00000275493	NM_005228.3	289	gCc/gTc	0			1			T	A/V	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	866/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(865-867)GCC>GTC			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,Gene3D:2.10.220.10,Pfam_domain:PF00757,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Jul									rs149840192,COSM21687,COSM1559811	28-Jul	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55221822C>T	3236			MODERATE		3.06	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=177&re=338&var=A289V	getma.org/pdb.php?prot=EGFR_HUMAN&from=177&to=338&var=A289V	getma.org/?cm=var&var=hg19,7,55221822,C,T&fts=all	A289V	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	0,1,1	1		probably_damaging(0.974)	p.A289V	NM_005228	NP_005219		deleterious(0.02)	0,1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		7	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	289			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Ala289Val,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Ala236Val,ENST00000454757,;EGFR,missense_variant,p.Ala244Val,ENST00000455089,;EGFR,missense_variant,p.Ala289Val,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Ala289Val,ENST00000442591,;EGFR,missense_variant,p.Ala289Val,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Ala289Val,ENST00000420316,NM_201283.1;	uc003tqk.2	c.866C>T	1043/9821	1	1		8	c.866C>T	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(865-867)GCC>GTC	13	13		p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55221822	Lung_Cancer_Familial_Clustering_of	0.592	ENSG00000146648	4882	g.chr7:55221822C>T	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity		p.A289V(HEC6-Tumor)|p.A289D(HS683-Tumor)|p.A289V(RL952-Tumor)	608		p.A289V(HEC6-Tumor)|p.A289D(HS683-Tumor)|p.A289V(RL952-Tumor)	608	1602.925986	KEEP	272	281	-1	198	249	272	281	-1	1604.422607	198	249	0.542735	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	T			EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	101	GBM-06-5856-TP	p.A289V	C	AGCTTTGGTGCCACCTGCGTG	NM_005228	NP_005219	55221822	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1112	+	T	T	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	289			Approximate.|Extracellular (Potential).			
EGFR	0	broad.mit.edu	GRCh37	7	55249017	55249018	+	inframe_insertion	In_Frame_Ins	INS	-	-	CCACGT			TCGA-06-6695-01	TCGA-06-6695-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.2316_2321dupCCACGT	p.His773_Val774dup	p.H773_V774dup	ENST00000275493	NM_005228.3	772	ccc/ccCCACGTc	0			1			CCACGT	P/PHV	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	2315-2316/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.H773_V774insNPH(12)|p.V774_C775insHV(4)|p.H773_V774insPH(3)|p.H773_V774insH(3)|p.V774M(3)|p.P772_H773insX(2)|p.N771_P772>SVDNR(1)|p.P772_H773insTHP(1)|p.H773_V774insGH(1)|p.H773_V774insG(1)|p.H773_V774insGNPH(1)|p.H773>NPY(1)|p.H773_V774>LM(1)|p.V774L(1)|p.P772P(1)|p.V774del(1)|p.D770_P772>ASVDNR(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(2314-2316)CCC>CCCCACGTC			Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000619,SMART_domains:SM00219,Gene3D:3.30.200.20,Pfam_domain:PF07714,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416,PROSITE_profiles:PS50011	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		20/28									COSM404810	20/28	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55249017_55249018insCCACGT	3236	6		MODERATE								--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc010kzg.1_In_Frame_Ins_p.729_730insHV|EGFR_uc011kco.1_In_Frame_Ins_p.721_722insHV|uc003tqo.2_RNA	1	1			p.774_775insHV	NM_005228	NP_005219			1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		20	2561_2562	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	774_775			Cytoplasmic (Potential).|Protein kinase.		insertion	EGFR,inframe_insertion,p.His773_Val774dup,ENST00000275493,NM_005228.3;EGFR,inframe_insertion,p.His720_Val721dup,ENST00000454757,;EGFR,inframe_insertion,p.His728_Val729dup,ENST00000455089,;EGFR,intron_variant,,ENST00000442591,;EGFR-AS1,non_coding_transcript_exon_variant,,ENST00000442411,;	uc003tqk.2	c.2315_2316insCCACGT	2492-2493/9821	5	5		8	c.2315_2316insCCACGT	A|O|Mis			NSCLC	glioma|NSCLC	7	INS	c.(2314-2316)CCC>CCCCACGTC	29	29		p.H773_V774insNPH(12)|p.V774_C775insHV(4)|p.H773_V774insPH(3)|p.H773_V774insH(3)|p.V774M(3)|p.P772_H773insX(2)|p.N771_P772>SVDNR(1)|p.P772_H773insTHP(1)|p.H773_V774insGH(1)|p.H773_V774insG(1)|p.H773_V774insGNPH(1)|p.H773>NPY(1)|p.H773_V774>LM(1)|p.V774L(1)|p.P772P(1)|p.V774del(1)|p.D770_P772>ASVDNR(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55249018	Lung_Cancer_Familial_Clustering_of	0.644	ENSG00000146648	4882	g.chr7:55249017_55249018insCCACGT	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608														0.09	1	0	0	1	1	0	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	CCACGT			EGFR_uc010kzg.1_In_Frame_Ins_p.729_730insHV|EGFR_uc011kco.1_In_Frame_Ins_p.721_722insHV|uc003tqo.2_RNA	110	GBM-06-6695-TP	p.774_775insHV	-	GTGGACAACCCCCACGTGTGCC	NM_005228	NP_005219	55249017	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		20	2561_2562	+	CCACGT	CCACGT	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		In_Frame_Ins	774_775			Cytoplasmic (Potential).|Protein kinase.			
EGFR	0	broad.mit.edu	GRCh37	7	55268881	55268881	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6700-01	TCGA-06-6700-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.2947G>A	p.Gly983Arg	p.G983R	ENST00000275493	NM_005228.3	983	Ggg/Agg	0			1			A	G/R	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	2947/3633	A|O|Mis			NSCLC	glioma|NSCLC				lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(2947-2949)GGG>AGG			Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000619,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		25/28									COSM3412205	25/28	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55268881G>A	3236			MODERATE		2.755	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=969&re=1208&var=G983R	getma.org/pdb.php?prot=EGFR_HUMAN&from=969&to=1208&var=G983R	getma.org/?cm=var&var=hg19,7,55268881,G,A&fts=all	G983R	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc010kzg.1_Missense_Mutation_p.G938R|EGFR_uc011kco.1_Missense_Mutation_p.G930R	1	1		probably_damaging(0.967)	p.G983R	NM_005228	NP_005219		deleterious(0.05)	1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		25	3193	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	983			Cytoplasmic (Potential).		SNV	EGFR,missense_variant,p.Gly983Arg,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Gly930Arg,ENST00000454757,;EGFR,missense_variant,p.Gly938Arg,ENST00000455089,;EGFR,intron_variant,,ENST00000442591,;EGFR,downstream_gene_variant,,ENST00000485503,;	uc003tqk.2	c.2947G>A	3124/9821	1	1		8	c.2947G>A	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(2947-2949)GGG>AGG	55	55			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55268881	Lung_Cancer_Familial_Clustering_of	0.512	ENSG00000146648	4882	g.chr7:55268881G>A	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	-239.084989	KEEP	3	7	-1	505	483	3	7	-1	11.947663	505	483	0.009945	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	A			EGFR_uc010kzg.1_Missense_Mutation_p.G938R|EGFR_uc011kco.1_Missense_Mutation_p.G930R	114	GBM-06-6700-TP	p.G983R	G	TCTGCACCAGGGGGATGAAAG	NM_005228	NP_005219	55268881	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		25	3193	+	A	A	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	983			Cytoplasmic (Potential).			
EGFR	0	broad.mit.edu	GRCh37	7	55221822	55221822	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-12-3650-01	TCGA-12-3650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.866C>T	p.Ala289Val	p.A289V	ENST00000275493	NM_005228.3	289	gCc/gTc	0			1			T	A/V	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	866/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(865-867)GCC>GTC			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,Gene3D:2.10.220.10,Pfam_domain:PF00757,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Jul									rs149840192,COSM21687,COSM1559811	28-Jul	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55221822C>T	3236			MODERATE		3.06	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=177&re=338&var=A289V	getma.org/pdb.php?prot=EGFR_HUMAN&from=177&to=338&var=A289V	getma.org/?cm=var&var=hg19,7,55221822,C,T&fts=all	A289V	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	0,1,1	1		probably_damaging(0.974)	p.A289V	NM_005228	NP_005219		deleterious(0.02)	0,1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		7	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	289			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Ala289Val,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Ala236Val,ENST00000454757,;EGFR,missense_variant,p.Ala244Val,ENST00000455089,;EGFR,missense_variant,p.Ala289Val,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Ala289Val,ENST00000442591,;EGFR,missense_variant,p.Ala289Val,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Ala289Val,ENST00000420316,NM_201283.1;	uc003tqk.2	c.866C>T	1043/9821	1	1		8	c.866C>T	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(865-867)GCC>GTC	13	13		p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55221822	Lung_Cancer_Familial_Clustering_of	0.592	ENSG00000146648	4882	g.chr7:55221822C>T	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity		p.A289V(HEC6-Tumor)|p.A289D(HS683-Tumor)|p.A289V(RL952-Tumor)	608		p.A289V(HEC6-Tumor)|p.A289D(HS683-Tumor)|p.A289V(RL952-Tumor)	608	2804.09939	KEEP	461	402	-1	52	84	461	402	-1	2927.354948	52	84	0.862745	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	T			EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	126	GBM-12-3650-TP	p.A289V	C	AGCTTTGGTGCCACCTGCGTG	NM_005228	NP_005219	55221822	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1112	+	T	T	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	289			Approximate.|Extracellular (Potential).			
EGFR	0	broad.mit.edu	GRCh37	7	55225428	55225428	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-12-3650-01	TCGA-12-3650-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.1280G>T	p.Arg427Leu	p.R427L	ENST00000275493	NM_005228.3	427	cGc/cTc	0			1			T	R/L	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	1280/3633	A|O|Mis			NSCLC	glioma|NSCLC				lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(1279-1281)CGC>CTC			Superfamily_domains:SSF52058,PIRSF_domain:PIRSF000619,Gene3D:3.80.20.20,Pfam_domain:PF01030,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Nov									COSM3412188,COSM3412189	28-Nov	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55225428G>T	3236			MODERATE		3.6	high	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=361&re=481&var=R427L	getma.org/pdb.php?prot=EGFR_HUMAN&from=361&to=481&var=R427L	getma.org/?cm=var&var=hg19,7,55225428,G,T&fts=all	R427L	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqi.2_Missense_Mutation_p.R427L|EGFR_uc003tqj.2_Missense_Mutation_p.R427L|EGFR_uc010kzg.1_Missense_Mutation_p.R382L|EGFR_uc011kco.1_Missense_Mutation_p.R374L|EGFR_uc011kcp.1_RNA|EGFR_uc011kcq.1_RNA	1,1	1		probably_damaging(0.993)	p.R427L	NM_005228	NP_005219		tolerated(0.06)	1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		11	1526	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	427			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Arg427Leu,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Arg374Leu,ENST00000454757,;EGFR,missense_variant,p.Arg382Leu,ENST00000455089,;EGFR,missense_variant,p.Arg427Leu,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Arg427Leu,ENST00000442591,;EGFR,missense_variant,p.Arg427Leu,ENST00000342916,NM_201282.1;EGFR,downstream_gene_variant,,ENST00000420316,NM_201283.1;	uc003tqk.2	c.1280G>T	1457/9821	2	2		8	c.1280G>T	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(1279-1281)CGC>CTC	40	40			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55225428	Lung_Cancer_Familial_Clustering_of	0.368	ENSG00000146648	4882	g.chr7:55225428G>T	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	-224.4659	KEEP	9	10	0.473684211	505	476	9	10	0.473684211	29.903999	505	476	0.019388	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	T			EGFR_uc003tqi.2_Missense_Mutation_p.R427L|EGFR_uc003tqj.2_Missense_Mutation_p.R427L|EGFR_uc010kzg.1_Missense_Mutation_p.R382L|EGFR_uc011kco.1_Missense_Mutation_p.R374L|EGFR_uc011kcp.1_RNA|EGFR_uc011kcq.1_RNA	126	GBM-12-3650-TP	p.R427L	G	GAAATCATACGCGGCAGGACC	NM_005228	NP_005219	55225428	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		11	1526	+	T	T	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	427			Approximate.|Extracellular (Potential).			
EGFR	0	broad.mit.edu	GRCh37	7	55221711	55221711	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-12-3652-01	TCGA-12-3652-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.755G>C	p.Arg252Pro	p.R252P	ENST00000275493	NM_005228.3	252	cGc/cCc	0			1			C	R/P	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	755/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.V30_R297>G(5)|p.R252C(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(754-756)CGC>CCC			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,SMART_domains:SM00261,Pfam_domain:PF00757,Gene3D:2.10.220.10,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Jul									COSM3412178,COSM3412179	28-Jul	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55221711G>C	3236			MODERATE		3.33	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=177&re=338&var=R252P	getma.org/pdb.php?prot=EGFR_HUMAN&from=177&to=338&var=R252P	getma.org/?cm=var&var=hg19,7,55221711,G,C&fts=all	R252P	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.R252P|EGFR_uc003tqi.2_Missense_Mutation_p.R252P|EGFR_uc003tqj.2_Missense_Mutation_p.R252P|EGFR_uc010kzg.1_Missense_Mutation_p.R207P|EGFR_uc011kco.1_Missense_Mutation_p.R199P|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	1,1	1		possibly_damaging(0.838)	p.R252P	NM_005228	NP_005219		tolerated(0.06)	1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		7	1001	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	252			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Arg252Pro,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Arg199Pro,ENST00000454757,;EGFR,missense_variant,p.Arg207Pro,ENST00000455089,;EGFR,missense_variant,p.Arg252Pro,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Arg252Pro,ENST00000442591,;EGFR,missense_variant,p.Arg252Pro,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Arg252Pro,ENST00000420316,NM_201283.1;	uc003tqk.2	c.755G>C	932/9821	4	4		8	c.755G>C	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(754-756)CGC>CCC	44	44		p.V30_R297>G(5)|p.R252C(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55221711	Lung_Cancer_Familial_Clustering_of	0.587	ENSG00000146648	4882	g.chr7:55221711G>C	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	88.254724	KEEP	39	37	-1	321	342	39	37	-1	186.958216	321	342	0.105181	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	C			EGFR_uc003tqh.2_Missense_Mutation_p.R252P|EGFR_uc003tqi.2_Missense_Mutation_p.R252P|EGFR_uc003tqj.2_Missense_Mutation_p.R252P|EGFR_uc010kzg.1_Missense_Mutation_p.R207P|EGFR_uc011kco.1_Missense_Mutation_p.R199P|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	127	GBM-12-3652-TP	p.R252P	G	TAGGTCTGCCGCAAATTCCGA	NM_005228	NP_005219	55221711	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1001	+	C	C	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	252			Approximate.|Extracellular (Potential).			
EGFR	0	broad.mit.edu	GRCh37	7	55221822	55221822	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-14-0786-01	TCGA-14-0786-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.866C>T	p.Ala289Val	p.A289V	ENST00000275493	NM_005228.3	289	gCc/gTc	0			1			T	A/V	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	866/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(865-867)GCC>GTC			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,Gene3D:2.10.220.10,Pfam_domain:PF00757,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Jul									rs149840192,COSM21687,COSM1559811	28-Jul	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55221822C>T	3236			MODERATE		3.06	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=177&re=338&var=A289V	getma.org/pdb.php?prot=EGFR_HUMAN&from=177&to=338&var=A289V	getma.org/?cm=var&var=hg19,7,55221822,C,T&fts=all	A289V	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	0,1,1	1		probably_damaging(0.974)	p.A289V	NM_005228	NP_005219		deleterious(0.02)	0,1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		7	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	289			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Ala289Val,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Ala236Val,ENST00000454757,;EGFR,missense_variant,p.Ala244Val,ENST00000455089,;EGFR,missense_variant,p.Ala289Val,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Ala289Val,ENST00000442591,;EGFR,missense_variant,p.Ala289Val,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Ala289Val,ENST00000420316,NM_201283.1;	uc003tqk.2	c.866C>T	1043/9821	1	1		8	c.866C>T	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(865-867)GCC>GTC	13	13		p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55221822	Lung_Cancer_Familial_Clustering_of	0.592	ENSG00000146648	4882	g.chr7:55221822C>T	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity		p.A289V(HEC6-Tumor)|p.A289D(HS683-Tumor)|p.A289V(RL952-Tumor)	608		p.A289V(HEC6-Tumor)|p.A289D(HS683-Tumor)|p.A289V(RL952-Tumor)	608	2599.06468	KEEP	391	437	-1	94	75	391	437	-1	2701.612043	94	75	0.837381	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	T			EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	134	GBM-14-0786-TP	p.A289V	C	AGCTTTGGTGCCACCTGCGTG	NM_005228	NP_005219	55221822	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1112	+	T	T	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	289			Approximate.|Extracellular (Potential).			
EGFR	0	broad.mit.edu	GRCh37	7	55238870	55238870	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01	TCGA-14-0789-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.1883G>A	p.Cys628Tyr	p.C628Y	ENST00000275493	NM_005228.3	628	tGc/tAc	0			1			A	C/Y	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	1883/3633	A|O|Mis			NSCLC	glioma|NSCLC				lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(1882-1884)TGC>TAC			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,Gene3D:2.10.220.10,Pfam_domain:PF14843,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		16/28									COSM3412200	16/28	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55238870G>A	3236			MODERATE		4.045	high	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=482&re=681&var=C628Y	getma.org/pdb.php?prot=EGFR_HUMAN&from=482&to=681&var=C628Y	getma.org/?cm=var&var=hg19,7,55238870,G,A&fts=all	C628Y	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc010kzg.1_Missense_Mutation_p.C583Y|EGFR_uc011kco.1_Missense_Mutation_p.C575Y|EGFR_uc011kcp.1_RNA|EGFR_uc011kcq.1_RNA	1	1		probably_damaging(0.951)	p.C628Y	NM_005228	NP_005219		deleterious(0)	1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		16	2129	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	628			Extracellular (Potential).		SNV	EGFR,missense_variant,p.Cys628Tyr,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Cys575Tyr,ENST00000454757,;EGFR,missense_variant,p.Cys583Tyr,ENST00000455089,;EGFR,missense_variant,p.Cys628Tyr,ENST00000442591,;EGFR,downstream_gene_variant,,ENST00000344576,NM_201284.1;EGFR,downstream_gene_variant,,ENST00000342916,NM_201282.1;	uc003tqk.2	c.1883G>A	2060/9821	2	2		8	c.1883G>A	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(1882-1884)TGC>TAC	17	17			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55238870	Lung_Cancer_Familial_Clustering_of	0.393	ENSG00000146648	4882	g.chr7:55238870G>A	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	28.621839	KEEP	49	45	-1	529	375	49	45	-1	173.900452	529	375	0.093714	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	A			EGFR_uc010kzg.1_Missense_Mutation_p.C583Y|EGFR_uc011kco.1_Missense_Mutation_p.C575Y|EGFR_uc011kcp.1_RNA|EGFR_uc011kcq.1_RNA	136	GBM-14-0789-TP	p.C628Y	G	TCCTACAGATGCACTGGGCCA	NM_005228	NP_005219	55238870	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		16	2129	+	A	A	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	628			Extracellular (Potential).			
EGFR	0	broad.mit.edu	GRCh37	7	55221822	55221822	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-14-0790-01	TCGA-14-0790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.866C>T	p.Ala289Val	p.A289V	ENST00000275493	NM_005228.3	289	gCc/gTc	0			1			T	A/V	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	866/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(865-867)GCC>GTC			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,Gene3D:2.10.220.10,Pfam_domain:PF00757,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Jul									rs149840192,COSM21687,COSM1559811	28-Jul	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55221822C>T	3236			MODERATE		3.06	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=177&re=338&var=A289V	getma.org/pdb.php?prot=EGFR_HUMAN&from=177&to=338&var=A289V	getma.org/?cm=var&var=hg19,7,55221822,C,T&fts=all	A289V	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	0,1,1	1		probably_damaging(0.974)	p.A289V	NM_005228	NP_005219		deleterious(0.02)	0,1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		7	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	289			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Ala289Val,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Ala236Val,ENST00000454757,;EGFR,missense_variant,p.Ala244Val,ENST00000455089,;EGFR,missense_variant,p.Ala289Val,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Ala289Val,ENST00000442591,;EGFR,missense_variant,p.Ala289Val,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Ala289Val,ENST00000420316,NM_201283.1;	uc003tqk.2	c.866C>T	1043/9821	1	1		8	c.866C>T	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(865-867)GCC>GTC	13	13		p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55221822	Lung_Cancer_Familial_Clustering_of	0.592	ENSG00000146648	4882	g.chr7:55221822C>T	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity		p.A289V(HEC6-Tumor)|p.A289D(HS683-Tumor)|p.A289V(RL952-Tumor)	608		p.A289V(HEC6-Tumor)|p.A289D(HS683-Tumor)|p.A289V(RL952-Tumor)	608	3061.053497	KEEP	428	503	-1	24	43	428	503	-1	3186.997639	24	43	0.946865	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	T			EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	137	GBM-14-0790-TP	p.A289V	C	AGCTTTGGTGCCACCTGCGTG	NM_005228	NP_005219	55221822	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1112	+	T	T	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	289			Approximate.|Extracellular (Potential).			
EGFR	0	broad.mit.edu	GRCh37	7	55233037	55233037	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.1787C>T	p.Pro596Leu	p.P596L	ENST00000275493	NM_005228.3	596	cCg/cTg	0			1			T	P/L	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	1787/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.P596L(2)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(1786-1788)CCG>CTG			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,SMART_domains:SM00261,Gene3D:2.10.220.10,Pfam_domain:PF14843,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		15/28									COSM21689,COSM191988	15/28	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55233037C>T	3236			MODERATE		2.775	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=482&re=681&var=P596L	getma.org/pdb.php?prot=EGFR_HUMAN&from=482&to=681&var=P596L	getma.org/?cm=var&var=hg19,7,55233037,C,T&fts=all	P596L	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqi.2_Missense_Mutation_p.P596L|EGFR_uc003tqj.2_Missense_Mutation_p.P596L|EGFR_uc010kzg.1_Missense_Mutation_p.P551L|EGFR_uc011kco.1_Missense_Mutation_p.P543L|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA	1,1	1		benign(0.367)	p.P596L	NM_005228	NP_005219		deleterious(0)	1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		15	2033	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	596			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Pro596Leu,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Pro543Leu,ENST00000454757,;EGFR,missense_variant,p.Pro551Leu,ENST00000455089,;EGFR,missense_variant,p.Pro596Leu,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Pro596Leu,ENST00000442591,;EGFR,missense_variant,p.Pro596Leu,ENST00000342916,NM_201282.1;	uc003tqk.2	c.1787C>T	1964/9821	1	1		8	c.1787C>T	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(1786-1788)CCG>CTG	10	10		p.P596L(2)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55233037	Lung_Cancer_Familial_Clustering_of	0.567	ENSG00000146648	4882	g.chr7:55233037C>T	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	-58.838097	KEEP	5	1	-1	141	144	5	1	-1	7.802986	141	144	0.019455	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	T			EGFR_uc003tqi.2_Missense_Mutation_p.P596L|EGFR_uc003tqj.2_Missense_Mutation_p.P596L|EGFR_uc010kzg.1_Missense_Mutation_p.P551L|EGFR_uc011kco.1_Missense_Mutation_p.P543L|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA	138	GBM-14-0813-TP	p.P596L	C	AAGACCTGCCCGGCAGGAGTC	NM_005228	NP_005219	55233037	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		15	2033	+	T	T	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	596			Approximate.|Extracellular (Potential).			
EGFR	0	broad.mit.edu	GRCh37	7	55210077	55210077	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.187G>A	p.Gly63Arg	p.G63R	ENST00000275493	NM_005228.3	63	Ggg/Agg	0			1			A	G/R	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	187/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.V30_R297>G(5)|p.G63R(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(187-189)GGG>AGG			Superfamily_domains:SSF52058,PIRSF_domain:PIRSF000619,Gene3D:3.80.20.20,Pfam_domain:PF01030,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Feb									COSM1451530,COSM1451531	28-Feb	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55210077G>A	3236			MODERATE		3.635	high	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=57&re=168&var=G63R	getma.org/pdb.php?prot=EGFR_HUMAN&from=57&to=168&var=G63R	getma.org/?cm=var&var=hg19,7,55210077,G,A&fts=all	G63R	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.G63R|EGFR_uc003tqi.2_Missense_Mutation_p.G63R|EGFR_uc003tqj.2_Missense_Mutation_p.G63R|EGFR_uc010kzg.1_Missense_Mutation_p.G63R|EGFR_uc011kco.1_Missense_Mutation_p.G10R	1,1	1		probably_damaging(0.998)	p.G63R	NM_005228	NP_005219		deleterious(0)	1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		2	433	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	63			Extracellular (Potential).		SNV	EGFR,missense_variant,p.Gly63Arg,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Gly10Arg,ENST00000454757,;EGFR,missense_variant,p.Gly63Arg,ENST00000455089,;EGFR,missense_variant,p.Gly63Arg,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Gly63Arg,ENST00000442591,;EGFR,missense_variant,p.Gly63Arg,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Gly63Arg,ENST00000420316,NM_201283.1;EGFR,missense_variant,p.Gly10Arg,ENST00000450046,;	uc003tqk.2	c.187G>A	364/9821	2	2		8	c.187G>A	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(187-189)GGG>AGG	25	25		p.V30_R297>G(5)|p.G63R(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55210077	Lung_Cancer_Familial_Clustering_of	0.398	ENSG00000146648	4882	g.chr7:55210077G>A	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	100.620337	KEEP	26	26	-1	127	120	26	26	-1	128.112206	127	120	0.174545	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	A			EGFR_uc003tqh.2_Missense_Mutation_p.G63R|EGFR_uc003tqi.2_Missense_Mutation_p.G63R|EGFR_uc003tqj.2_Missense_Mutation_p.G63R|EGFR_uc010kzg.1_Missense_Mutation_p.G63R|EGFR_uc011kco.1_Missense_Mutation_p.G10R	142	GBM-14-1034-TP	p.G63R	G	GGTGGTCCTTGGGAATTTGGA	NM_005228	NP_005219	55210077	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		2	433	+	A	A	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	63			Extracellular (Potential).			
EGFR	0	broad.mit.edu	GRCh37	7	55220295	55220295	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-14-1395-01	TCGA-14-1395-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.685A>T	p.Ser229Cys	p.S229C	ENST00000275493	NM_005228.3	229	Agt/Tgt	0			1			T	S/C	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	685/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.V30_R297>G(5)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(685-687)AGT>TGT			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,SMART_domains:SM00261,Pfam_domain:PF00757,Gene3D:2.10.220.10,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Jun									COSM3412174,COSM3412175	28-Jun	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55220295A>T	3236			MODERATE		2.63	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=177&re=338&var=S229C	getma.org/pdb.php?prot=EGFR_HUMAN&from=177&to=338&var=S229C	getma.org/?cm=var&var=hg19,7,55220295,A,T&fts=all	S229C	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.S229C|EGFR_uc003tqi.2_Missense_Mutation_p.S229C|EGFR_uc003tqj.2_Missense_Mutation_p.S229C|EGFR_uc010kzg.1_Missense_Mutation_p.S184C|EGFR_uc011kco.1_Missense_Mutation_p.S176C|EGFR_uc003tql.1_RNA	1,1	1		probably_damaging(0.911)	p.S229C	NM_005228	NP_005219		deleterious(0)	1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		6	931	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	229			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Ser229Cys,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Ser176Cys,ENST00000454757,;EGFR,missense_variant,p.Ser184Cys,ENST00000455089,;EGFR,missense_variant,p.Ser229Cys,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Ser229Cys,ENST00000442591,;EGFR,missense_variant,p.Ser229Cys,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Ser229Cys,ENST00000420316,NM_201283.1;	uc003tqk.2	c.685A>T	862/9821	2	2		8	c.685A>T	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(685-687)AGT>TGT	20	20		p.V30_R297>G(5)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55220295	Lung_Cancer_Familial_Clustering_of	0.617	ENSG00000146648	4882	g.chr7:55220295A>T	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	2265.168589	KEEP	406	391	-1	99	102	406	391	-1	2331.825181	99	102	0.781046	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	T			EGFR_uc003tqh.2_Missense_Mutation_p.S229C|EGFR_uc003tqi.2_Missense_Mutation_p.S229C|EGFR_uc003tqj.2_Missense_Mutation_p.S229C|EGFR_uc010kzg.1_Missense_Mutation_p.S184C|EGFR_uc011kco.1_Missense_Mutation_p.S176C|EGFR_uc003tql.1_RNA	144	GBM-14-1395-TP	p.S229C	A	CAAGTCCCCCAGTGACTGCTG	NM_005228	NP_005219	55220295	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	931	+	T	T	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	229			Approximate.|Extracellular (Potential).			
EGFR	0	broad.mit.edu	GRCh37	7	55221822	55221822	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-14-1456-01	TCGA-14-1456-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.866C>T	p.Ala289Val	p.A289V	ENST00000275493	NM_005228.3	289	gCc/gTc	0			1			T	A/V	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	866/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(865-867)GCC>GTC			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,Gene3D:2.10.220.10,Pfam_domain:PF00757,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Jul									rs149840192,COSM21687,COSM1559811	28-Jul	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55221822C>T	3236			MODERATE		3.06	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=177&re=338&var=A289V	getma.org/pdb.php?prot=EGFR_HUMAN&from=177&to=338&var=A289V	getma.org/?cm=var&var=hg19,7,55221822,C,T&fts=all	A289V	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	0,1,1	1		probably_damaging(0.974)	p.A289V	NM_005228	NP_005219		deleterious(0.02)	0,1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		7	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	289			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Ala289Val,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Ala236Val,ENST00000454757,;EGFR,missense_variant,p.Ala244Val,ENST00000455089,;EGFR,missense_variant,p.Ala289Val,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Ala289Val,ENST00000442591,;EGFR,missense_variant,p.Ala289Val,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Ala289Val,ENST00000420316,NM_201283.1;	uc003tqk.2	c.866C>T	1043/9821	1	1		8	c.866C>T	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(865-867)GCC>GTC	13	13		p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55221822	Lung_Cancer_Familial_Clustering_of	0.592	ENSG00000146648	4882	g.chr7:55221822C>T	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity		p.A289V(HEC6-Tumor)|p.A289D(HS683-Tumor)|p.A289V(RL952-Tumor)	608		p.A289V(HEC6-Tumor)|p.A289D(HS683-Tumor)|p.A289V(RL952-Tumor)	608	74.184205	KEEP	12	21	-1	41	65	12	21	-1	82.263852	41	65	0.23622	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	T			EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	146	GBM-14-1456-TP	p.A289V	C	AGCTTTGGTGCCACCTGCGTG	NM_005228	NP_005219	55221822	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1112	+	T	T	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	289			Approximate.|Extracellular (Potential).			
EGFR	0	broad.mit.edu	GRCh37	7	55219021	55219021	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-1456-01	TCGA-14-1456-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.594C>T	p.Ser198=	p.S198=	ENST00000275493	NM_005228.3	198	agC/agT	0	T:0		1			T	S	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	594/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.V30_R297>G(5)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(592-594)AGC>AGT			Superfamily_domains:SSF57184,Superfamily_domains:SSF52058,PIRSF_domain:PIRSF000619,Gene3D:3.80.20.20,Pfam_domain:PF00757,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)		T:0.0002	ENSP00000275493		28-May	9.06E-05				0.000605	0.000105			rs370376501,COSM1488604,COSM1488605	28-May	common_variant	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55219021C>T	3236			LOW								--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Silent_p.S198S|EGFR_uc003tqi.2_Silent_p.S198S|EGFR_uc003tqj.2_Silent_p.S198S|EGFR_uc010kzg.1_Silent_p.S153S|EGFR_uc011kco.1_Silent_p.S145S|EGFR_uc003tql.1_5'Flank	0,1,1	1			p.S198S	NM_005228	NP_005219			0,1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		5	840	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	198			Approximate.|Extracellular (Potential).		SNV	EGFR,synonymous_variant,p.=,ENST00000275493,NM_005228.3;EGFR,synonymous_variant,p.=,ENST00000454757,;EGFR,synonymous_variant,p.=,ENST00000455089,;EGFR,synonymous_variant,p.=,ENST00000344576,NM_201284.1;EGFR,synonymous_variant,p.=,ENST00000442591,;EGFR,synonymous_variant,p.=,ENST00000342916,NM_201282.1;EGFR,synonymous_variant,p.=,ENST00000420316,NM_201283.1;EGFR,downstream_gene_variant,,ENST00000450046,;	uc003tqk.2	c.594C>T	771/9821	2	2		8	c.594C>T	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(592-594)AGC>AGT	34	34		p.V30_R297>G(5)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55219021	Lung_Cancer_Familial_Clustering_of	0.493	ENSG00000146648	4882	g.chr7:55219021C>T	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	137.62697	KEEP	35	29	-1	114	94	35	29	-1	153.752555	114	94	0.229167	1	0	0	0	0	0	0	1	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	T			EGFR_uc003tqh.2_Silent_p.S198S|EGFR_uc003tqi.2_Silent_p.S198S|EGFR_uc003tqj.2_Silent_p.S198S|EGFR_uc010kzg.1_Silent_p.S153S|EGFR_uc011kco.1_Silent_p.S145S|EGFR_uc003tql.1_5'Flank	146	GBM-14-1456-TP	p.S198S	C	CCAATGGGAGCTGCTGGGGTG	NM_005228	NP_005219	55219021	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		5	840	+	T	T	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Silent	198			Approximate.|Extracellular (Potential).			
EGFR	0	broad.mit.edu	GRCh37	7	55221821	55221821	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01	TCGA-14-1823-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.865G>A	p.Ala289Thr	p.A289T	ENST00000275493	NM_005228.3	289	Gcc/Acc	0			1			A	A/T	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	865/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.A289V(20)|p.V30_R297>G(5)|p.A289T(3)|p.A289D(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(865-867)GCC>ACC			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,Gene3D:2.10.220.10,Pfam_domain:PF00757,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Jul									rs769696078,COSM21686,COSM1559810	28-Jul	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55221821G>A	3236			MODERATE		2.71	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=177&re=338&var=A289T	getma.org/pdb.php?prot=EGFR_HUMAN&from=177&to=338&var=A289T	getma.org/?cm=var&var=hg19,7,55221821,G,A&fts=all	A289T	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.A289T|EGFR_uc003tqi.2_Missense_Mutation_p.A289T|EGFR_uc003tqj.2_Missense_Mutation_p.A289T|EGFR_uc010kzg.1_Missense_Mutation_p.A244T|EGFR_uc011kco.1_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	0,1,1	1		probably_damaging(0.981)	p.A289T	NM_005228	NP_005219		deleterious(0)	0,1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		7	1111	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	289			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Ala289Thr,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Ala236Thr,ENST00000454757,;EGFR,missense_variant,p.Ala244Thr,ENST00000455089,;EGFR,missense_variant,p.Ala289Thr,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Ala289Thr,ENST00000442591,;EGFR,missense_variant,p.Ala289Thr,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Ala289Thr,ENST00000420316,NM_201283.1;	uc003tqk.2	c.865G>A	1042/9821	1	1		8	c.865G>A	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(865-867)GCC>ACC	53	53		p.A289V(20)|p.V30_R297>G(5)|p.A289T(3)|p.A289D(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55221821	Lung_Cancer_Familial_Clustering_of	0.592	ENSG00000146648	4882	g.chr7:55221821G>A	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	2648.508501	KEEP	458	448	-1	29	43	458	448	-1	2784.927642	29	43	0.936354	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	A			EGFR_uc003tqh.2_Missense_Mutation_p.A289T|EGFR_uc003tqi.2_Missense_Mutation_p.A289T|EGFR_uc003tqj.2_Missense_Mutation_p.A289T|EGFR_uc010kzg.1_Missense_Mutation_p.A244T|EGFR_uc011kco.1_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	147	GBM-14-1823-TP	p.A289T	G	CAGCTTTGGTGCCACCTGCGT	NM_005228	NP_005219	55221821	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1111	+	A	A	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	289			Approximate.|Extracellular (Potential).			
EGFR	0	broad.mit.edu	GRCh37	7	55224307	55224307	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1829-01	TCGA-14-1829-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.1088C>T	p.Thr363Ile	p.T363I	ENST00000275493	NM_005228.3	363	aCc/aTc	0			1			T	T/I	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	1088/3633	A|O|Mis			NSCLC	glioma|NSCLC				lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(1087-1089)ACC>ATC			Superfamily_domains:SSF52058,PIRSF_domain:PIRSF000619,Gene3D:3.80.20.20,Pfam_domain:PF01030,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Sep									COSM2155593,COSM2155594	28-Sep	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55224307C>T	3236			MODERATE		3.575	high	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=361&re=481&var=T363I	getma.org/pdb.php?prot=EGFR_HUMAN&from=361&to=481&var=T363I	getma.org/?cm=var&var=hg19,7,55224307,C,T&fts=all	T363I	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.T363I|EGFR_uc003tqi.2_Missense_Mutation_p.T363I|EGFR_uc003tqj.2_Missense_Mutation_p.T363I|EGFR_uc010kzg.1_Missense_Mutation_p.T318I|EGFR_uc011kco.1_Missense_Mutation_p.T310I|EGFR_uc011kcp.1_RNA|EGFR_uc011kcq.1_RNA	1,1	1		probably_damaging(1)	p.T363I	NM_005228	NP_005219		deleterious(0)	1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		9	1334	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	363			Extracellular (Potential).		SNV	EGFR,missense_variant,p.Thr363Ile,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Thr310Ile,ENST00000454757,;EGFR,missense_variant,p.Thr318Ile,ENST00000455089,;EGFR,missense_variant,p.Thr363Ile,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Thr363Ile,ENST00000442591,;EGFR,missense_variant,p.Thr363Ile,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Thr363Ile,ENST00000420316,NM_201283.1;	uc003tqk.2	c.1088C>T	1265/9821	1	1		8	c.1088C>T	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(1087-1089)ACC>ATC	16	16			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55224307	Lung_Cancer_Familial_Clustering_of	0.413	ENSG00000146648	4882	g.chr7:55224307C>T	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	2899.197867	KEEP	449	512	-1	19	20	449	512	-1	2960.11343	19	20	0.966268	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	T			EGFR_uc003tqh.2_Missense_Mutation_p.T363I|EGFR_uc003tqi.2_Missense_Mutation_p.T363I|EGFR_uc003tqj.2_Missense_Mutation_p.T363I|EGFR_uc010kzg.1_Missense_Mutation_p.T318I|EGFR_uc011kco.1_Missense_Mutation_p.T310I|EGFR_uc011kcp.1_RNA|EGFR_uc011kcq.1_RNA	149	GBM-14-1829-TP	p.T363I	C	AAAAACTGCACCTCCATCAGT	NM_005228	NP_005219	55224307	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		9	1334	+	T	T	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	363			Extracellular (Potential).			
EGFR	0	broad.mit.edu	GRCh37	7	55238894	55238894	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01	TCGA-15-0742-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.1907G>A	p.Cys636Tyr	p.C636Y	ENST00000275493	NM_005228.3	636	tGt/tAt	0			1			A	C/Y	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	1907/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.C636Y(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(1906-1908)TGT>TAT			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,Gene3D:2.10.220.10,Pfam_domain:PF14843,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		16/28									COSM39163	16/28	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55238894G>A	3236			MODERATE		3.95	high	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=482&re=681&var=C636Y	getma.org/pdb.php?prot=EGFR_HUMAN&from=482&to=681&var=C636Y	getma.org/?cm=var&var=hg19,7,55238894,G,A&fts=all	C636Y	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc010kzg.1_Missense_Mutation_p.C591Y|EGFR_uc011kco.1_Missense_Mutation_p.C583Y|EGFR_uc011kcp.1_RNA|EGFR_uc011kcq.1_RNA	1	1		probably_damaging(0.951)	p.C636Y	NM_005228	NP_005219		deleterious(0.01)	1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		16	2153	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	636			Extracellular (Potential).		SNV	EGFR,missense_variant,p.Cys636Tyr,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Cys583Tyr,ENST00000454757,;EGFR,missense_variant,p.Cys591Tyr,ENST00000455089,;EGFR,missense_variant,p.Cys636Tyr,ENST00000442591,;EGFR,downstream_gene_variant,,ENST00000344576,NM_201284.1;EGFR,downstream_gene_variant,,ENST00000342916,NM_201282.1;	uc003tqk.2	c.1907G>A	2084/9821	2	2		8	c.1907G>A	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(1906-1908)TGT>TAT	17	17		p.C636Y(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55238894	Lung_Cancer_Familial_Clustering_of	0.423	ENSG00000146648	4882	g.chr7:55238894G>A	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	3117.178925	KEEP	487	465	-1	27	21	487	465	-1	3209.057989	27	21	0.961661	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	A			EGFR_uc010kzg.1_Missense_Mutation_p.C591Y|EGFR_uc011kco.1_Missense_Mutation_p.C583Y|EGFR_uc011kcp.1_RNA|EGFR_uc011kcq.1_RNA	153	GBM-15-0742-TP	p.C636Y	G	CTTGAAGGCTGTCCAACGAAT	NM_005228	NP_005219	55238894	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		16	2153	+	A	A	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	636			Extracellular (Potential).			
EGFR	0	broad.mit.edu	GRCh37	7	55221743	55221743	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-16-1045-01	TCGA-16-1045-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.787A>C	p.Thr263Pro	p.T263P	ENST00000275493	NM_005228.3	263	Acc/Ccc	0			1			C	T/P	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	787/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.V30_R297>G(5)|p.T263P(4)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(787-789)ACC>CCC			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,SMART_domains:SM00261,Pfam_domain:PF00757,Gene3D:2.10.220.10,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Jul									COSM21684,COSM1559809	28-Jul	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55221743A>C	3236			MODERATE		2.085	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=177&re=338&var=T263P	getma.org/pdb.php?prot=EGFR_HUMAN&from=177&to=338&var=T263P	getma.org/?cm=var&var=hg19,7,55221743,A,C&fts=all	T263P	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.T263P|EGFR_uc003tqi.2_Missense_Mutation_p.T263P|EGFR_uc003tqj.2_Missense_Mutation_p.T263P|EGFR_uc010kzg.1_Missense_Mutation_p.T218P|EGFR_uc011kco.1_Missense_Mutation_p.T210P|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	1,1	1		possibly_damaging(0.826)	p.T263P	NM_005228	NP_005219		tolerated(0.19)	1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		7	1033	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	263			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Thr263Pro,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Thr210Pro,ENST00000454757,;EGFR,missense_variant,p.Thr218Pro,ENST00000455089,;EGFR,missense_variant,p.Thr263Pro,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Thr263Pro,ENST00000442591,;EGFR,missense_variant,p.Thr263Pro,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Thr263Pro,ENST00000420316,NM_201283.1;	uc003tqk.2	c.787A>C	964/9821	3	3		8	c.787A>C	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(787-789)ACC>CCC	61	61		p.V30_R297>G(5)|p.T263P(4)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55221743	Lung_Cancer_Familial_Clustering_of	0.577	ENSG00000146648	4882	g.chr7:55221743A>C	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	3178.572842	KEEP	429	480	-1	41	50	429	480	-1	3330.022321	41	50	0.918771	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	C			EGFR_uc003tqh.2_Missense_Mutation_p.T263P|EGFR_uc003tqi.2_Missense_Mutation_p.T263P|EGFR_uc003tqj.2_Missense_Mutation_p.T263P|EGFR_uc010kzg.1_Missense_Mutation_p.T218P|EGFR_uc011kco.1_Missense_Mutation_p.T210P|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	157	GBM-16-1045-TP	p.T263P	A	GTGCAAGGACACCTGCCCCCC	NM_005228	NP_005219	55221743	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1033	+	C	C	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	263			Approximate.|Extracellular (Potential).			
EGFR	0	broad.mit.edu	GRCh37	7	55249121	55249121	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.2419G>C	p.Asp807His	p.D807H	ENST00000275493	NM_005228.3	807	Gac/Cac	0			1			C	D/H	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	2419/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.D807N(2)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(2419-2421)GAC>CAC			Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000619,SMART_domains:SM00219,Pfam_domain:PF07714,Gene3D:1.10.510.10,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416,PROSITE_profiles:PS50011	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		20/28									COSM3412201	20/28	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55249121G>C	3236			MODERATE		1.11	low	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=712&re=968&var=D807H	getma.org/pdb.php?prot=EGFR_HUMAN&from=712&to=968&var=D807H	getma.org/?cm=var&var=hg19,7,55249121,G,C&fts=all	D807H	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc010kzg.1_Missense_Mutation_p.D762H|EGFR_uc011kco.1_Missense_Mutation_p.D754H|uc003tqo.2_RNA	1	1		probably_damaging(0.995)	p.D807H	NM_005228	NP_005219		deleterious(0)	1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		20	2665	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	807			Cytoplasmic (Potential).|Protein kinase.		SNV	EGFR,missense_variant,p.Asp807His,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Asp754His,ENST00000454757,;EGFR,missense_variant,p.Asp762His,ENST00000455089,;EGFR,intron_variant,,ENST00000442591,;EGFR-AS1,non_coding_transcript_exon_variant,,ENST00000442411,;	uc003tqk.2	c.2419G>C	2596/9821	3	3		8	c.2419G>C	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(2419-2421)GAC>CAC	51	51		p.D807N(2)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55249121	Lung_Cancer_Familial_Clustering_of	0.582	ENSG00000146648	4882	g.chr7:55249121G>C	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	-128.576157	KEEP	6	9	-1	296	395	6	9	-1	27.997709	296	395	0.021277	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	C			EGFR_uc010kzg.1_Missense_Mutation_p.D762H|EGFR_uc011kco.1_Missense_Mutation_p.D754H|uc003tqo.2_RNA	160	GBM-19-1790-TP	p.D807H	G	GGAACACAAAGACAATATTGG	NM_005228	NP_005219	55249121	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		20	2665	+	C	C	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	807			Cytoplasmic (Potential).|Protein kinase.			
EGFR	0	broad.mit.edu	GRCh37	7	55210077	55210078	+	missense_variant	Missense_Mutation	DNP	GG	GG	AA			TCGA-19-2624-01	TCGA-19-2624-01	GG	GG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.187_188delGGinsAA	p.Gly63Lys	p.G63K	ENST00000275493	NM_005228.3	63	GGg/AAg	0			1			AA	G/K	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	187-188/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.V30_R297>G(5)|p.G63R(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(187-189)GGG>AAG			Superfamily_domains:SSF52058,PIRSF_domain:PIRSF000619,Gene3D:3.80.20.20,Pfam_domain:PF01030,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Feb										28-Feb	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55210077_55210078GG>AA	3236			MODERATE								--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.G63K|EGFR_uc003tqi.2_Missense_Mutation_p.G63K|EGFR_uc003tqj.2_Missense_Mutation_p.G63K|EGFR_uc010kzg.1_Missense_Mutation_p.G63K|EGFR_uc011kco.1_Missense_Mutation_p.G10K		1		probably_damaging(0.994)	p.G63K	NM_005228	NP_005219		deleterious(0.01)		EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		2	433_434	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	63			Extracellular (Potential).		substitution	EGFR,missense_variant,p.Gly63Lys,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Gly10Lys,ENST00000454757,;EGFR,missense_variant,p.Gly63Lys,ENST00000455089,;EGFR,missense_variant,p.Gly63Lys,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Gly63Lys,ENST00000442591,;EGFR,missense_variant,p.Gly63Lys,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Gly63Lys,ENST00000420316,NM_201283.1;EGFR,missense_variant,p.Gly10Lys,ENST00000450046,;	uc003tqk.2	c.187_188GG>AA	364-365/9821	2	2		8	c.187_188GG>AA	A|O|Mis			NSCLC	glioma|NSCLC	7	DNP	c.(187-189)GGG>AAG	25	25		p.V30_R297>G(5)|p.G63R(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55210078	Lung_Cancer_Familial_Clustering_of	0.396	ENSG00000146648	4882	g.chr7:55210077_55210078GG>AA	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	-134.719986	KEEP	0	0	-1	0	0	0	0	-1	81.428664	0	0	0.044239	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	AA			EGFR_uc003tqh.2_Missense_Mutation_p.G63K|EGFR_uc003tqi.2_Missense_Mutation_p.G63K|EGFR_uc003tqj.2_Missense_Mutation_p.G63K|EGFR_uc010kzg.1_Missense_Mutation_p.G63K|EGFR_uc011kco.1_Missense_Mutation_p.G10K	164	GBM-19-2624-TP	p.G63K	GG	GGTGGTCCTTGGGAATTTGGAA	NM_005228	NP_005219	55210077	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		2	433_434	+	AA	AA	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	63			Extracellular (Potential).			
EGFR	0	broad.mit.edu	GRCh37	7	55249002	55249003	+	inframe_insertion	In_Frame_Ins	INS	-	-	CAGCGTGGA			TCGA-19-2625-01	TCGA-19-2625-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.2303_2311dupGCGTGGACA	p.Ser768_Asp770dup	p.S768_D770dup	ENST00000275493	NM_005228.3	767	gcc/gcCAGCGTGGAc	0			1			CAGCGTGGA	A/ASVD	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	2300-2301/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.D770_N771insSVD(21)|p.V769_D770insASV(20)|p.D770_N771insG(6)|p.D770>GY(3)|p.V769_D770insMASVD(2)|p.A767V(2)|p.V769_D770insGVV(2)|p.V769_D770insCV(1)|p.D770N(1)|p.D770_N771insGD(1)|p.D770_N771>AGG(1)|p.D770_N771insGL(1)|p.D770fs*61(1)|p.D770_P772>ASVDNR(1)|p.D770_N771insD(1)|p.V769_D770insGSV(1)|p.D770_N771insN(1)|p.V769_D770insDNV(1)|p.D770_N771insAPW(1)|p.D770_N771insSVP(1)|p.D770_N771insSVQ(1)|p.D770>GF(1)|p.D770_N771insMATP(1)|p.D770_N771insDG(1)|p.D770_N771insNPH(1)|p.V769_D770insGV(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(2299-2301)GCC>GCCAGCGTGGAC			Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000619,SMART_domains:SM00219,Gene3D:3.30.200.20,Pfam_domain:PF07714,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416,PROSITE_profiles:PS50011	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		20/28										20/28	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55249002_55249003insCAGCGTGGA	3236	11		MODERATE								--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc010kzg.1_In_Frame_Ins_p.725_726insSVD|EGFR_uc011kco.1_In_Frame_Ins_p.717_718insSVD|uc003tqo.2_RNA		1			p.770_771insSVD	NM_005228	NP_005219				EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		20	2546_2547	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	770_771			Cytoplasmic (Potential).|Protein kinase.		insertion	EGFR,inframe_insertion,p.Ser768_Asp770dup,ENST00000275493,NM_005228.3;EGFR,inframe_insertion,p.Ser715_Asp717dup,ENST00000454757,;EGFR,inframe_insertion,p.Ser723_Asp725dup,ENST00000455089,;EGFR,intron_variant,,ENST00000442591,;EGFR-AS1,non_coding_transcript_exon_variant,,ENST00000442411,;	uc003tqk.2	c.2300_2301insCAGCGTGGA	2477-2478/9821	5	5		8	c.2300_2301insCAGCGTGGA	A|O|Mis			NSCLC	glioma|NSCLC	7	INS	c.(2299-2301)GCC>GCCAGCGTGGAC	35	35		p.D770_N771insSVD(21)|p.V769_D770insASV(20)|p.D770_N771insG(6)|p.D770>GY(3)|p.V769_D770insMASVD(2)|p.A767V(2)|p.V769_D770insGVV(2)|p.V769_D770insCV(1)|p.D770N(1)|p.D770_N771insGD(1)|p.D770_N771>AGG(1)|p.D770_N771insGL(1)|p.D770fs*61(1)|p.D770_P772>ASVDNR(1)|p.D770_N771insD(1)|p.V769_D770insGSV(1)|p.D770_N771insN(1)|p.V769_D770insDNV(1)|p.D770_N771insAPW(1)|p.D770_N771insSVP(1)|p.D770_N771insSVQ(1)|p.D770>GF(1)|p.D770_N771insMATP(1)|p.D770_N771insDG(1)|p.D770_N771insNPH(1)|p.V769_D770insGV(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55249003	Lung_Cancer_Familial_Clustering_of	0.649	ENSG00000146648	4882	g.chr7:55249002_55249003insCAGCGTGGA	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608														0.06	1	0	0	1	1	0	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	CAGCGTGGA			EGFR_uc010kzg.1_In_Frame_Ins_p.725_726insSVD|EGFR_uc011kco.1_In_Frame_Ins_p.717_718insSVD|uc003tqo.2_RNA	165	GBM-19-2625-TP	p.770_771insSVD	-	TACGTGATGGCCAGCGTGGACA	NM_005228	NP_005219	55249002	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		20	2546_2547	+	CAGCGTGGA	CAGCGTGGA	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		In_Frame_Ins	770_771			Cytoplasmic (Potential).|Protein kinase.			
EGFR	0	broad.mit.edu	GRCh37	7	55220278	55220278	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-5139-01	TCGA-26-5139-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.668G>A	p.Cys223Tyr	p.C223Y	ENST00000275493	NM_005228.3	223	tGc/tAc	0			1			A	C/Y	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	668/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.V30_R297>G(5)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(667-669)TGC>TAC			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,Pfam_domain:PF00757,Gene3D:2.10.220.10,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Jun									COSM3412172,COSM3412173	28-Jun	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55220278G>A	3236			MODERATE		2.995	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=177&re=338&var=C223Y	getma.org/pdb.php?prot=EGFR_HUMAN&from=177&to=338&var=C223Y	getma.org/?cm=var&var=hg19,7,55220278,G,A&fts=all	C223Y	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.C223Y|EGFR_uc003tqi.2_Missense_Mutation_p.C223Y|EGFR_uc003tqj.2_Missense_Mutation_p.C223Y|EGFR_uc010kzg.1_Missense_Mutation_p.C178Y|EGFR_uc011kco.1_Missense_Mutation_p.C170Y|EGFR_uc003tql.1_RNA	1,1	1		probably_damaging(1)	p.C223Y	NM_005228	NP_005219		deleterious(0)	1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		6	914	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	223			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Cys223Tyr,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Cys170Tyr,ENST00000454757,;EGFR,missense_variant,p.Cys178Tyr,ENST00000455089,;EGFR,missense_variant,p.Cys223Tyr,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Cys223Tyr,ENST00000442591,;EGFR,missense_variant,p.Cys223Tyr,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Cys223Tyr,ENST00000420316,NM_201283.1;	uc003tqk.2	c.668G>A	845/9821	1	1		8	c.668G>A	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(667-669)TGC>TAC	62	62		p.V30_R297>G(5)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55220278	Lung_Cancer_Familial_Clustering_of	0.602	ENSG00000146648	4882	g.chr7:55220278G>A	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	-163.399274	KEEP	13	10	-1	523	447	13	10	-1	21.415035	523	447	0.02681	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	A			EGFR_uc003tqh.2_Missense_Mutation_p.C223Y|EGFR_uc003tqi.2_Missense_Mutation_p.C223Y|EGFR_uc003tqj.2_Missense_Mutation_p.C223Y|EGFR_uc010kzg.1_Missense_Mutation_p.C178Y|EGFR_uc011kco.1_Missense_Mutation_p.C170Y|EGFR_uc003tql.1_RNA	186	GBM-26-5139-TP	p.C223Y	G	TCCGGGCGCTGCCGTGGCAAG	NM_005228	NP_005219	55220278	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	914	+	A	A	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	223			Approximate.|Extracellular (Potential).			
EGFR	0	broad.mit.edu	GRCh37	7	55238870	55238870	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T			TCGA-26-5139-01	TCGA-26-5139-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.1883G>T	p.Cys628Phe	p.C628F	ENST00000275493	NM_005228.3	628	tGc/tTc	0			1			T	C/F	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	1883/3633	A|O|Mis			NSCLC	glioma|NSCLC				lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(1882-1884)TGC>TTC			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,Gene3D:2.10.220.10,Pfam_domain:PF14843,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		16/28									COSM2157152	16/28	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55238870G>T	3236			MODERATE		4.045	high	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=482&re=681&var=C628F	getma.org/pdb.php?prot=EGFR_HUMAN&from=482&to=681&var=C628F	getma.org/?cm=var&var=hg19,7,55238870,G,T&fts=all	C628F	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc010kzg.1_Missense_Mutation_p.C583F|EGFR_uc011kco.1_Missense_Mutation_p.C575F|EGFR_uc011kcp.1_RNA|EGFR_uc011kcq.1_RNA	1	1		probably_damaging(0.929)	p.C628F	NM_005228	NP_005219		deleterious(0)	1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		16	2129	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	628			Extracellular (Potential).		SNV	EGFR,missense_variant,p.Cys628Phe,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Cys575Phe,ENST00000454757,;EGFR,missense_variant,p.Cys583Phe,ENST00000455089,;EGFR,missense_variant,p.Cys628Phe,ENST00000442591,;EGFR,downstream_gene_variant,,ENST00000344576,NM_201284.1;EGFR,downstream_gene_variant,,ENST00000342916,NM_201282.1;	uc003tqk.2	c.1883G>T	2060/9821	2	2		8	c.1883G>T	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(1882-1884)TGC>TTC	17	17			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55238870	Lung_Cancer_Familial_Clustering_of	0.393	ENSG00000146648	4882	g.chr7:55238870G>T	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	2312.543374	KEEP	421	391	0.518472906	93	94	421	391	0.518472906	2399.84632	93	94	0.814422	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	T			EGFR_uc010kzg.1_Missense_Mutation_p.C583F|EGFR_uc011kco.1_Missense_Mutation_p.C575F|EGFR_uc011kcp.1_RNA|EGFR_uc011kcq.1_RNA	186	GBM-26-5139-TP	p.C628F	G	TCCTACAGATGCACTGGGCCA	NM_005228	NP_005219	55238870	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		16	2129	+	T	T	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	628			Extracellular (Potential).			
EGFR	0	broad.mit.edu	GRCh37	7	55221822	55221822	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-27-1831-01	TCGA-27-1831-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.866C>T	p.Ala289Val	p.A289V	ENST00000275493	NM_005228.3	289	gCc/gTc	0			1			T	A/V	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	866/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(865-867)GCC>GTC			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,Gene3D:2.10.220.10,Pfam_domain:PF00757,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Jul									rs149840192,COSM21687,COSM1559811	28-Jul	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55221822C>T	3236			MODERATE		3.06	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=177&re=338&var=A289V	getma.org/pdb.php?prot=EGFR_HUMAN&from=177&to=338&var=A289V	getma.org/?cm=var&var=hg19,7,55221822,C,T&fts=all	A289V	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	0,1,1	1		probably_damaging(0.974)	p.A289V	NM_005228	NP_005219		deleterious(0.02)	0,1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		7	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	289			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Ala289Val,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Ala236Val,ENST00000454757,;EGFR,missense_variant,p.Ala244Val,ENST00000455089,;EGFR,missense_variant,p.Ala289Val,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Ala289Val,ENST00000442591,;EGFR,missense_variant,p.Ala289Val,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Ala289Val,ENST00000420316,NM_201283.1;	uc003tqk.2	c.866C>T	1043/9821	1	1		8	c.866C>T	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(865-867)GCC>GTC	13	13		p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55221822	Lung_Cancer_Familial_Clustering_of	0.592	ENSG00000146648	4882	g.chr7:55221822C>T	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity		p.A289V(HEC6-Tumor)|p.A289D(HS683-Tumor)|p.A289V(RL952-Tumor)	608		p.A289V(HEC6-Tumor)|p.A289D(HS683-Tumor)|p.A289V(RL952-Tumor)	608	-227.191231	KEEP	11	1	-1	455	533	11	1	-1	21.787539	455	533	0.016949	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	T			EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	190	GBM-27-1831-TP	p.A289V	C	AGCTTTGGTGCCACCTGCGTG	NM_005228	NP_005219	55221822	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1112	+	T	T	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	289			Approximate.|Extracellular (Potential).			
EGFR	0	broad.mit.edu	GRCh37	7	55211080	55211080	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.323G>A	p.Arg108Lys	p.R108K	ENST00000275493	NM_005228.3	108	aGa/aAa	0			1			A	R/K	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	323/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.R108K(7)|p.V30_R297>G(5)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(322-324)AGA>AAA			Superfamily_domains:SSF52058,PIRSF_domain:PIRSF000619,Gene3D:3.80.20.20,Pfam_domain:PF01030,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Mar									COSM21683,COSM1559806	28-Mar	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55211080G>A	3236			MODERATE		2.965	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=57&re=168&var=R108K	getma.org/pdb.php?prot=EGFR_HUMAN&from=57&to=168&var=R108K	getma.org/?cm=var&var=hg19,7,55211080,G,A&fts=all	R108K	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.R108K|EGFR_uc003tqi.2_Missense_Mutation_p.R108K|EGFR_uc003tqj.2_Missense_Mutation_p.R108K|EGFR_uc010kzg.1_Missense_Mutation_p.R108K|EGFR_uc011kco.1_Missense_Mutation_p.R55K	1,1	1		probably_damaging(0.998)	p.R108K	NM_005228	NP_005219		deleterious(0)	1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		3	569	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	108			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Arg108Lys,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Arg55Lys,ENST00000454757,;EGFR,missense_variant,p.Arg108Lys,ENST00000455089,;EGFR,missense_variant,p.Arg108Lys,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Arg108Lys,ENST00000442591,;EGFR,missense_variant,p.Arg108Lys,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Arg108Lys,ENST00000420316,NM_201283.1;EGFR,missense_variant,p.Arg55Lys,ENST00000450046,;	uc003tqk.2	c.323G>A	500/9821	1	1		8	c.323G>A	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(322-324)AGA>AAA	50	50		p.R108K(7)|p.V30_R297>G(5)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55211080	Lung_Cancer_Familial_Clustering_of	0.423	ENSG00000146648	4882	g.chr7:55211080G>A	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	1211.558567	KEEP	198	222	-1	267	312	198	222	-1	1219.044224	267	312	0.405992	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	A			EGFR_uc003tqh.2_Missense_Mutation_p.R108K|EGFR_uc003tqi.2_Missense_Mutation_p.R108K|EGFR_uc003tqj.2_Missense_Mutation_p.R108K|EGFR_uc010kzg.1_Missense_Mutation_p.R108K|EGFR_uc011kco.1_Missense_Mutation_p.R55K	190	GBM-27-1831-TP	p.R108K	G	CAGATCATCAGAGGAAATATG	NM_005228	NP_005219	55211080	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		3	569	+	A	A	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	108			Approximate.|Extracellular (Potential).			
EGFR	0	broad.mit.edu	GRCh37	7	55241677	55241677	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.2125G>A	p.Glu709Lys	p.E709K	ENST00000275493	NM_005228.3	709	Gaa/Aaa	0			1			A	E/K	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	2125/3633	A|O|Mis			NSCLC	glioma|NSCLC	drug_response		p.E709K(17)|p.E709A(11)|p.E709G(7)|p.E709V(5)|p.E709_T710>D(5)|p.E709H(2)|p.E709_T710>G(1)|p.E709_T710>A(1)|p.E709fs*1(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(2125-2127)GAA>AAA			Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000619,Gene3D:1z9iA01,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		18/28	1.65E-05				0.000302				rs727504256,COSM12988	18/28	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55241677G>A	3236			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=682&re=711&var=E709K	getma.org/pdb.php?prot=EGFR_HUMAN&from=682&to=711&var=E709K	getma.org/?cm=var&var=hg19,7,55241677,G,A&fts=all	E709K	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc010kzg.1_Missense_Mutation_p.E664K|EGFR_uc011kco.1_Missense_Mutation_p.E656K	1,1	1		possibly_damaging(0.811)	p.E709K	NM_005228	NP_005219		deleterious(0.01)	0,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		18	2371	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	709		E -> K (found in a lung cancer sample).|E -> A (found in a lung cancer sample).	Cytoplasmic (Potential).		SNV	EGFR,missense_variant,p.Glu709Lys,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Glu656Lys,ENST00000454757,;EGFR,missense_variant,p.Glu664Lys,ENST00000455089,;EGFR,intron_variant,,ENST00000442591,;EGFR,downstream_gene_variant,,ENST00000344576,NM_201284.1;	uc003tqk.2	c.2125G>A	2302/9821	1	1		8	c.2125G>A	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(2125-2127)GAA>AAA	49	49		p.E709K(17)|p.E709A(11)|p.E709G(7)|p.E709V(5)|p.E709_T710>D(5)|p.E709H(2)|p.E709_T710>G(1)|p.E709_T710>A(1)|p.E709fs*1(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55241677	Lung_Cancer_Familial_Clustering_of	0.567	ENSG00000146648	4882	g.chr7:55241677G>A	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	-214.611283	KEEP	26	33	-1	440	500	26	33	-1	23.215131	440	500	0.018661	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	A			EGFR_uc010kzg.1_Missense_Mutation_p.E664K|EGFR_uc011kco.1_Missense_Mutation_p.E656K	190	GBM-27-1831-TP	p.E709K	G	GATCTTGAAGGAAACTGAATT	NM_005228	NP_005219	55241677	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		18	2371	+	A	A	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	709		E -> K (found in a lung cancer sample).|E -> A (found in a lung cancer sample).	Cytoplasmic (Potential).			
EGFR	0	broad.mit.edu	GRCh37	7	55241694	55241694	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-27-1831-01	TCGA-27-1831-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.2142G>C	p.Lys714Asn	p.K714N	ENST00000275493	NM_005228.3	714	aaG/aaC	0			1			C	K/N	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	2142/3633	A|O|Mis			NSCLC	glioma|NSCLC				lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(2140-2142)AAG>AAC			Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000619,SMART_domains:SM00219,Gene3D:1z9iA01,Pfam_domain:PF07714,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416,PROSITE_profiles:PS50011	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		18/28									COSM133183	18/28	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55241694G>C	3236			MODERATE		0.51	neutral	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=712&re=968&var=K714N	getma.org/pdb.php?prot=EGFR_HUMAN&from=712&to=968&var=K714N	getma.org/?cm=var&var=hg19,7,55241694,G,C&fts=all	K714N	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc010kzg.1_Missense_Mutation_p.K669N|EGFR_uc011kco.1_Missense_Mutation_p.K661N	1	1		probably_damaging(0.982)	p.K714N	NM_005228	NP_005219		deleterious(0.01)	1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		18	2388	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	714			Cytoplasmic (Potential).|Protein kinase.		SNV	EGFR,missense_variant,p.Lys714Asn,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Lys661Asn,ENST00000454757,;EGFR,missense_variant,p.Lys669Asn,ENST00000455089,;EGFR,intron_variant,,ENST00000442591,;EGFR,downstream_gene_variant,,ENST00000344576,NM_201284.1;	uc003tqk.2	c.2142G>C	2319/9821	3	3		8	c.2142G>C	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(2140-2142)AAG>AAC	51	51			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55241694	Lung_Cancer_Familial_Clustering_of	0.567	ENSG00000146648	4882	g.chr7:55241694G>C	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	-218.812411	KEEP	29	30	-1	473	466	29	30	-1	25.428329	473	466	0.016269	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	C			EGFR_uc010kzg.1_Missense_Mutation_p.K669N|EGFR_uc011kco.1_Missense_Mutation_p.K661N	190	GBM-27-1831-TP	p.K714N	G	AATTCAAAAAGATCAAAGTGC	NM_005228	NP_005219	55241694	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		18	2388	+	C	C	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	714			Cytoplasmic (Potential).|Protein kinase.			
EGFR	0	broad.mit.edu	GRCh37	7	55220274	55220274	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2528-01	TCGA-27-2528-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.664C>T	p.Arg222Cys	p.R222C	ENST00000275493	NM_005228.3	222	Cgc/Tgc	0			1			T	R/C	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	664/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.V30_R297>G(5)|p.R222C(2)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(664-666)CGC>TGC			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,Pfam_domain:PF00757,Gene3D:2.10.220.10,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Jun									COSM35508,COSM191968	28-Jun	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55220274C>T	3236			MODERATE		3.325	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=177&re=338&var=R222C	getma.org/pdb.php?prot=EGFR_HUMAN&from=177&to=338&var=R222C	getma.org/?cm=var&var=hg19,7,55220274,C,T&fts=all	R222C	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.R222C|EGFR_uc003tqi.2_Missense_Mutation_p.R222C|EGFR_uc003tqj.2_Missense_Mutation_p.R222C|EGFR_uc010kzg.1_Missense_Mutation_p.R177C|EGFR_uc011kco.1_Missense_Mutation_p.R169C|EGFR_uc003tql.1_RNA	1,1	1		probably_damaging(1)	p.R222C	NM_005228	NP_005219		deleterious(0)	1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		6	910	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	222			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Arg222Cys,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Arg169Cys,ENST00000454757,;EGFR,missense_variant,p.Arg177Cys,ENST00000455089,;EGFR,missense_variant,p.Arg222Cys,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Arg222Cys,ENST00000442591,;EGFR,missense_variant,p.Arg222Cys,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Arg222Cys,ENST00000420316,NM_201283.1;	uc003tqk.2	c.664C>T	841/9821	1	1		8	c.664C>T	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(664-666)CGC>TGC	3	3		p.V30_R297>G(5)|p.R222C(2)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55220274	Lung_Cancer_Familial_Clustering_of	0.597	ENSG00000146648	4882	g.chr7:55220274C>T	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	2313.219044	KEEP	403	403	-1	91	99	403	403	-1	2392.062593	91	99	0.807865	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	T			EGFR_uc003tqh.2_Missense_Mutation_p.R222C|EGFR_uc003tqi.2_Missense_Mutation_p.R222C|EGFR_uc003tqj.2_Missense_Mutation_p.R222C|EGFR_uc010kzg.1_Missense_Mutation_p.R177C|EGFR_uc011kco.1_Missense_Mutation_p.R169C|EGFR_uc003tql.1_RNA	205	GBM-27-2528-TP	p.R222C	C	GTGCTCCGGGCGCTGCCGTGG	NM_005228	NP_005219	55220274	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	910	+	T	T	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	222			Approximate.|Extracellular (Potential).			
EGFR	0	broad.mit.edu	GRCh37	7	55223543	55223543	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-1747-01	TCGA-28-1747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.910C>T	p.His304Tyr	p.H304Y	ENST00000275493	NM_005228.3	304	Cac/Tac	0			1			T	H/Y	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	910/3633	A|O|Mis			NSCLC	glioma|NSCLC				lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(910-912)CAC>TAC			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,Gene3D:2.10.220.10,Pfam_domain:PF00757,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Aug									COSM2149971,COSM2149972	28-Aug	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55223543C>T	3236			MODERATE		2.615	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=177&re=338&var=H304Y	getma.org/pdb.php?prot=EGFR_HUMAN&from=177&to=338&var=H304Y	getma.org/?cm=var&var=hg19,7,55223543,C,T&fts=all	H304Y	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.H304Y|EGFR_uc003tqi.2_Missense_Mutation_p.H304Y|EGFR_uc003tqj.2_Missense_Mutation_p.H304Y|EGFR_uc010kzg.1_Missense_Mutation_p.H259Y|EGFR_uc011kco.1_Missense_Mutation_p.H251Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	1,1	1		benign(0.049)	p.H304Y	NM_005228	NP_005219		tolerated(1)	1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		8	1156	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	304			Extracellular (Potential).		SNV	EGFR,missense_variant,p.His304Tyr,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.His251Tyr,ENST00000454757,;EGFR,missense_variant,p.His259Tyr,ENST00000455089,;EGFR,missense_variant,p.His304Tyr,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.His304Tyr,ENST00000442591,;EGFR,missense_variant,p.His304Tyr,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.His304Tyr,ENST00000420316,NM_201283.1;	uc003tqk.2	c.910C>T	1087/9821	2	2		8	c.910C>T	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(910-912)CAC>TAC	22	22			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55223543	Lung_Cancer_Familial_Clustering_of	0.592	ENSG00000146648	4882	g.chr7:55223543C>T	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	193.922015	KEEP	114	119	-1	380	387	114	119	-1	225.450559	380	387	0.221719	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	T			EGFR_uc003tqh.2_Missense_Mutation_p.H304Y|EGFR_uc003tqi.2_Missense_Mutation_p.H304Y|EGFR_uc003tqj.2_Missense_Mutation_p.H304Y|EGFR_uc010kzg.1_Missense_Mutation_p.H259Y|EGFR_uc011kco.1_Missense_Mutation_p.H251Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	206	GBM-28-1747-TP	p.H304Y	C	GGTGACAGATCACGGCTCGTG	NM_005228	NP_005219	55223543	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		8	1156	+	T	T	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	304			Extracellular (Potential).			
EGFR	0	broad.mit.edu	GRCh37	7	55211079	55211079	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-1747-01	TCGA-28-1747-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.322A>G	p.Arg108Gly	p.R108G	ENST00000275493	NM_005228.3	108	Aga/Gga	0			1			G	R/G	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	322/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.R108K(7)|p.V30_R297>G(5)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(322-324)AGA>GGA			Superfamily_domains:SSF52058,PIRSF_domain:PIRSF000619,Gene3D:3.80.20.20,Pfam_domain:PF01030,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Mar									COSM1451536,COSM1451537	28-Mar	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55211079A>G	3236			MODERATE		3.06	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=57&re=168&var=R108G	getma.org/pdb.php?prot=EGFR_HUMAN&from=57&to=168&var=R108G	getma.org/?cm=var&var=hg19,7,55211079,A,G&fts=all	R108G	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.R108G|EGFR_uc003tqi.2_Missense_Mutation_p.R108G|EGFR_uc003tqj.2_Missense_Mutation_p.R108G|EGFR_uc010kzg.1_Missense_Mutation_p.R108G|EGFR_uc011kco.1_Missense_Mutation_p.R55G	1,1	1		probably_damaging(1)	p.R108G	NM_005228	NP_005219		deleterious(0)	1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		3	568	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	108			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Arg108Gly,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Arg55Gly,ENST00000454757,;EGFR,missense_variant,p.Arg108Gly,ENST00000455089,;EGFR,missense_variant,p.Arg108Gly,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Arg108Gly,ENST00000442591,;EGFR,missense_variant,p.Arg108Gly,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Arg108Gly,ENST00000420316,NM_201283.1;EGFR,missense_variant,p.Arg55Gly,ENST00000450046,;	uc003tqk.2	c.322A>G	499/9821	3	3		8	c.322A>G	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(322-324)AGA>GGA	4	4		p.R108K(7)|p.V30_R297>G(5)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55211079	Lung_Cancer_Familial_Clustering_of	0.418	ENSG00000146648	4882	g.chr7:55211079A>G	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	-76.034777	KEEP	28	22	-1	451	499	28	22	-1	121.420669	451	499	0.055731	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	G			EGFR_uc003tqh.2_Missense_Mutation_p.R108G|EGFR_uc003tqi.2_Missense_Mutation_p.R108G|EGFR_uc003tqj.2_Missense_Mutation_p.R108G|EGFR_uc010kzg.1_Missense_Mutation_p.R108G|EGFR_uc011kco.1_Missense_Mutation_p.R55G	206	GBM-28-1747-TP	p.R108G	A	GCAGATCATCAGAGGAAATAT	NM_005228	NP_005219	55211079	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		3	568	+	G	G	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	108			Approximate.|Extracellular (Potential).			
EGFR	0	broad.mit.edu	GRCh37	7	55221821	55221821	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01	TCGA-28-5207-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.865G>A	p.Ala289Thr	p.A289T	ENST00000275493	NM_005228.3	289	Gcc/Acc	0			1			A	A/T	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	865/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.A289V(20)|p.V30_R297>G(5)|p.A289T(3)|p.A289D(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(865-867)GCC>ACC			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,Gene3D:2.10.220.10,Pfam_domain:PF00757,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Jul									rs769696078,COSM21686,COSM1559810	28-Jul	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55221821G>A	3236			MODERATE		2.71	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=177&re=338&var=A289T	getma.org/pdb.php?prot=EGFR_HUMAN&from=177&to=338&var=A289T	getma.org/?cm=var&var=hg19,7,55221821,G,A&fts=all	A289T	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.A289T|EGFR_uc003tqi.2_Missense_Mutation_p.A289T|EGFR_uc003tqj.2_Missense_Mutation_p.A289T|EGFR_uc010kzg.1_Missense_Mutation_p.A244T|EGFR_uc011kco.1_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	0,1,1	1		probably_damaging(0.981)	p.A289T	NM_005228	NP_005219		deleterious(0)	0,1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		7	1111	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	289			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Ala289Thr,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Ala236Thr,ENST00000454757,;EGFR,missense_variant,p.Ala244Thr,ENST00000455089,;EGFR,missense_variant,p.Ala289Thr,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Ala289Thr,ENST00000442591,;EGFR,missense_variant,p.Ala289Thr,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Ala289Thr,ENST00000420316,NM_201283.1;	uc003tqk.2	c.865G>A	1042/9821	1	1		8	c.865G>A	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(865-867)GCC>ACC	53	53		p.A289V(20)|p.V30_R297>G(5)|p.A289T(3)|p.A289D(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55221821	Lung_Cancer_Familial_Clustering_of	0.592	ENSG00000146648	4882	g.chr7:55221821G>A	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	208.973992	KEEP	39	50	-1	57	63	39	50	-1	209.588455	57	63	0.437838	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	A			EGFR_uc003tqh.2_Missense_Mutation_p.A289T|EGFR_uc003tqi.2_Missense_Mutation_p.A289T|EGFR_uc003tqj.2_Missense_Mutation_p.A289T|EGFR_uc010kzg.1_Missense_Mutation_p.A244T|EGFR_uc011kco.1_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	216	GBM-28-5207-TP	p.A289T	G	CAGCTTTGGTGCCACCTGCGT	NM_005228	NP_005219	55221821	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1111	+	A	A	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	289			Approximate.|Extracellular (Potential).			
EGFR	0	broad.mit.edu	GRCh37	7	55233043	55233043	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs139236063		TCGA-28-5209-01	TCGA-28-5209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.1793G>C	p.Gly598Ala	p.G598A	ENST00000275493	NM_005228.3	598	gGa/gCa	0			1			C	G/A	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	1793/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.G598V(16)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(1792-1794)GGA>GCA			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,SMART_domains:SM00261,Gene3D:2.10.220.10,Pfam_domain:PF14843,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		15/28									COSM3412196,COSM3412197	15/28	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55233043G>C	3236			MODERATE		2.855	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=482&re=681&var=G598A	getma.org/pdb.php?prot=EGFR_HUMAN&from=482&to=681&var=G598A	getma.org/?cm=var&var=hg19,7,55233043,G,C&fts=all	G598A	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqi.2_Missense_Mutation_p.G598A|EGFR_uc003tqj.2_Missense_Mutation_p.G598A|EGFR_uc010kzg.1_Missense_Mutation_p.G553A|EGFR_uc011kco.1_Missense_Mutation_p.G545A|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA	1,1	1		benign(0.278)	p.G598A	NM_005228	NP_005219		deleterious(0.01)	1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		15	2039	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	598			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Gly598Ala,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Gly545Ala,ENST00000454757,;EGFR,missense_variant,p.Gly553Ala,ENST00000455089,;EGFR,missense_variant,p.Gly598Ala,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Gly598Ala,ENST00000442591,;EGFR,missense_variant,p.Gly598Ala,ENST00000342916,NM_201282.1;	uc003tqk.2	c.1793G>C	1970/9821	3	3		8	c.1793G>C	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(1792-1794)GGA>GCA	52	52		p.G598V(16)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55233043	Lung_Cancer_Familial_Clustering_of	0.567	ENSG00000146648	4882	g.chr7:55233043G>C	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	227.034203	KEEP	57	70	-1	412	459	57	70	-1	355.682887	412	459	0.127368	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	C			EGFR_uc003tqi.2_Missense_Mutation_p.G598A|EGFR_uc003tqj.2_Missense_Mutation_p.G598A|EGFR_uc010kzg.1_Missense_Mutation_p.G553A|EGFR_uc011kco.1_Missense_Mutation_p.G545A|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA	218	GBM-28-5209-TP	p.G598A	G	TGCCCGGCAGGAGTCATGGGA	NM_005228	NP_005219	55233043	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		15	2039	+	C	C	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	598			Approximate.|Extracellular (Potential).			
EGFR	0	broad.mit.edu	GRCh37	7	55268064	55268064	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.2904C>T	p.Phe968=	p.F968=	ENST00000275493	NM_005228.3	968	ttC/ttT	0			1			T	F	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	2904/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.F968L(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(2902-2904)TTC>TTT			Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000619,SMART_domains:SM00219,Gene3D:1.10.510.10,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416,PROSITE_profiles:PS50011	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		24/28									COSM3412203	24/28	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55268064C>T	3236			LOW								--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc010kzg.1_Silent_p.F923F|EGFR_uc011kco.1_Silent_p.F915F	1	1			p.F968F	NM_005228	NP_005219			1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		24	3150	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	968			Cytoplasmic (Potential).|Protein kinase.		SNV	EGFR,synonymous_variant,p.=,ENST00000275493,NM_005228.3;EGFR,synonymous_variant,p.=,ENST00000454757,;EGFR,synonymous_variant,p.=,ENST00000455089,;EGFR,intron_variant,,ENST00000442591,;EGFR,non_coding_transcript_exon_variant,,ENST00000485503,;	uc003tqk.2	c.2904C>T	3081/9821	1	1		8	c.2904C>T	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(2902-2904)TTC>TTT	8	8		p.F968L(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55268064	Lung_Cancer_Familial_Clustering_of	0.478	ENSG00000146648	4882	g.chr7:55268064C>T	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	1472.39671	KEEP	377	396	-1	115	112	377	396	-1	1486.056616	115	112	0.654799	1	0	0	0	0	0	0	1	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	T			EGFR_uc010kzg.1_Silent_p.F923F|EGFR_uc011kco.1_Silent_p.F915F	218	GBM-28-5209-TP	p.F968F	C	TCATCGAATTCTCCAAAATGG	NM_005228	NP_005219	55268064	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		24	3150	+	T	T	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Silent	968			Cytoplasmic (Potential).|Protein kinase.			
EGFR	0	broad.mit.edu	GRCh37	7	55221822	55221822	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-32-1970-01	TCGA-32-1970-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.866C>T	p.Ala289Val	p.A289V	ENST00000275493	NM_005228.3	289	gCc/gTc	0			1			T	A/V	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	866/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(865-867)GCC>GTC			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,Gene3D:2.10.220.10,Pfam_domain:PF00757,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Jul									rs149840192,COSM21687,COSM1559811	28-Jul	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55221822C>T	3236			MODERATE		3.06	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=177&re=338&var=A289V	getma.org/pdb.php?prot=EGFR_HUMAN&from=177&to=338&var=A289V	getma.org/?cm=var&var=hg19,7,55221822,C,T&fts=all	A289V	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	0,1,1	1		probably_damaging(0.974)	p.A289V	NM_005228	NP_005219		deleterious(0.02)	0,1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		7	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	289			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Ala289Val,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Ala236Val,ENST00000454757,;EGFR,missense_variant,p.Ala244Val,ENST00000455089,;EGFR,missense_variant,p.Ala289Val,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Ala289Val,ENST00000442591,;EGFR,missense_variant,p.Ala289Val,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Ala289Val,ENST00000420316,NM_201283.1;	uc003tqk.2	c.866C>T	1043/9821	1	1		8	c.866C>T	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(865-867)GCC>GTC	13	13		p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55221822	Lung_Cancer_Familial_Clustering_of	0.592	ENSG00000146648	4882	g.chr7:55221822C>T	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity		p.A289V(HEC6-Tumor)|p.A289D(HS683-Tumor)|p.A289V(RL952-Tumor)	608		p.A289V(HEC6-Tumor)|p.A289D(HS683-Tumor)|p.A289V(RL952-Tumor)	608	1520.814999	KEEP	232	303	-1	194	270	232	303	-1	1521.247565	194	270	0.522751	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	T			EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	228	GBM-32-1970-TP	p.A289V	C	AGCTTTGGTGCCACCTGCGTG	NM_005228	NP_005219	55221822	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1112	+	T	T	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	289			Approximate.|Extracellular (Potential).			
EGFR	0	broad.mit.edu	GRCh37	7	55221821	55221821	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1991-01	TCGA-32-1991-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.865G>A	p.Ala289Thr	p.A289T	ENST00000275493	NM_005228.3	289	Gcc/Acc	0			1			A	A/T	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	865/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.A289V(20)|p.V30_R297>G(5)|p.A289T(3)|p.A289D(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(865-867)GCC>ACC			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,Gene3D:2.10.220.10,Pfam_domain:PF00757,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Jul									rs769696078,COSM21686,COSM1559810	28-Jul	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55221821G>A	3236			MODERATE		2.71	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=177&re=338&var=A289T	getma.org/pdb.php?prot=EGFR_HUMAN&from=177&to=338&var=A289T	getma.org/?cm=var&var=hg19,7,55221821,G,A&fts=all	A289T	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.A289T|EGFR_uc003tqi.2_Missense_Mutation_p.A289T|EGFR_uc003tqj.2_Missense_Mutation_p.A289T|EGFR_uc010kzg.1_Missense_Mutation_p.A244T|EGFR_uc011kco.1_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	0,1,1	1		probably_damaging(0.981)	p.A289T	NM_005228	NP_005219		deleterious(0)	0,1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		7	1111	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	289			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Ala289Thr,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Ala236Thr,ENST00000454757,;EGFR,missense_variant,p.Ala244Thr,ENST00000455089,;EGFR,missense_variant,p.Ala289Thr,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Ala289Thr,ENST00000442591,;EGFR,missense_variant,p.Ala289Thr,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Ala289Thr,ENST00000420316,NM_201283.1;	uc003tqk.2	c.865G>A	1042/9821	1	1		8	c.865G>A	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(865-867)GCC>ACC	53	53		p.A289V(20)|p.V30_R297>G(5)|p.A289T(3)|p.A289D(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55221821	Lung_Cancer_Familial_Clustering_of	0.592	ENSG00000146648	4882	g.chr7:55221821G>A	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	-206.473236	KEEP	15	10	-1	436	538	15	10	-1	32.087378	436	538	0.025157	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	A			EGFR_uc003tqh.2_Missense_Mutation_p.A289T|EGFR_uc003tqi.2_Missense_Mutation_p.A289T|EGFR_uc003tqj.2_Missense_Mutation_p.A289T|EGFR_uc010kzg.1_Missense_Mutation_p.A244T|EGFR_uc011kco.1_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	234	GBM-32-1991-TP	p.A289T	G	CAGCTTTGGTGCCACCTGCGT	NM_005228	NP_005219	55221821	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1111	+	A	A	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	289			Approximate.|Extracellular (Potential).			
EGFR	0	broad.mit.edu	GRCh37	7	55220274	55220274	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4926-01	TCGA-76-4926-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.664C>T	p.Arg222Cys	p.R222C	ENST00000275493	NM_005228.3	222	Cgc/Tgc	0			1			T	R/C	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	664/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.V30_R297>G(5)|p.R222C(2)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(664-666)CGC>TGC			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,Pfam_domain:PF00757,Gene3D:2.10.220.10,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Jun									COSM35508,COSM191968	28-Jun	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55220274C>T	3236			MODERATE		3.325	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=177&re=338&var=R222C	getma.org/pdb.php?prot=EGFR_HUMAN&from=177&to=338&var=R222C	getma.org/?cm=var&var=hg19,7,55220274,C,T&fts=all	R222C	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.R222C|EGFR_uc003tqi.2_Missense_Mutation_p.R222C|EGFR_uc003tqj.2_Missense_Mutation_p.R222C|EGFR_uc010kzg.1_Missense_Mutation_p.R177C|EGFR_uc011kco.1_Missense_Mutation_p.R169C|EGFR_uc003tql.1_RNA	1,1	1		probably_damaging(1)	p.R222C	NM_005228	NP_005219		deleterious(0)	1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		6	910	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	222			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Arg222Cys,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Arg169Cys,ENST00000454757,;EGFR,missense_variant,p.Arg177Cys,ENST00000455089,;EGFR,missense_variant,p.Arg222Cys,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Arg222Cys,ENST00000442591,;EGFR,missense_variant,p.Arg222Cys,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Arg222Cys,ENST00000420316,NM_201283.1;	uc003tqk.2	c.664C>T	841/9821	1	1		8	c.664C>T	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(664-666)CGC>TGC	3	3		p.V30_R297>G(5)|p.R222C(2)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55220274	Lung_Cancer_Familial_Clustering_of	0.597	ENSG00000146648	4882	g.chr7:55220274C>T	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	-69.588326	KEEP	9	13	-1	280	334	9	13	-1	24.76504	280	334	0.040865	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	T			EGFR_uc003tqh.2_Missense_Mutation_p.R222C|EGFR_uc003tqi.2_Missense_Mutation_p.R222C|EGFR_uc003tqj.2_Missense_Mutation_p.R222C|EGFR_uc010kzg.1_Missense_Mutation_p.R177C|EGFR_uc011kco.1_Missense_Mutation_p.R169C|EGFR_uc003tql.1_RNA	266	GBM-76-4926-TP	p.R222C	C	GTGCTCCGGGCGCTGCCGTGG	NM_005228	NP_005219	55220274	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	910	+	T	T	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	222			Approximate.|Extracellular (Potential).			
EGFR	0	broad.mit.edu	GRCh37	7	55220274	55220274	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01	TCGA-76-4927-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.664C>T	p.Arg222Cys	p.R222C	ENST00000275493	NM_005228.3	222	Cgc/Tgc	0			1			T	R/C	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	664/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.V30_R297>G(5)|p.R222C(2)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(664-666)CGC>TGC			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,Pfam_domain:PF00757,Gene3D:2.10.220.10,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Jun									COSM35508,COSM191968	28-Jun	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55220274C>T	3236			MODERATE		3.325	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=177&re=338&var=R222C	getma.org/pdb.php?prot=EGFR_HUMAN&from=177&to=338&var=R222C	getma.org/?cm=var&var=hg19,7,55220274,C,T&fts=all	R222C	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.R222C|EGFR_uc003tqi.2_Missense_Mutation_p.R222C|EGFR_uc003tqj.2_Missense_Mutation_p.R222C|EGFR_uc010kzg.1_Missense_Mutation_p.R177C|EGFR_uc011kco.1_Missense_Mutation_p.R169C|EGFR_uc003tql.1_RNA	1,1	1		probably_damaging(1)	p.R222C	NM_005228	NP_005219		deleterious(0)	1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		6	910	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	222			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Arg222Cys,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Arg169Cys,ENST00000454757,;EGFR,missense_variant,p.Arg177Cys,ENST00000455089,;EGFR,missense_variant,p.Arg222Cys,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Arg222Cys,ENST00000442591,;EGFR,missense_variant,p.Arg222Cys,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Arg222Cys,ENST00000420316,NM_201283.1;	uc003tqk.2	c.664C>T	841/9821	1	1		8	c.664C>T	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(664-666)CGC>TGC	3	3		p.V30_R297>G(5)|p.R222C(2)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55220274	Lung_Cancer_Familial_Clustering_of	0.597	ENSG00000146648	4882	g.chr7:55220274C>T	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	1289.107759	KEEP	275	265	-1	224	231	275	265	-1	1289.159946	224	231	0.507883	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	T			EGFR_uc003tqh.2_Missense_Mutation_p.R222C|EGFR_uc003tqi.2_Missense_Mutation_p.R222C|EGFR_uc003tqj.2_Missense_Mutation_p.R222C|EGFR_uc010kzg.1_Missense_Mutation_p.R177C|EGFR_uc011kco.1_Missense_Mutation_p.R169C|EGFR_uc003tql.1_RNA	267	GBM-76-4927-TP	p.R222C	C	GTGCTCCGGGCGCTGCCGTGG	NM_005228	NP_005219	55220274	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	910	+	T	T	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	222			Approximate.|Extracellular (Potential).			
EGFR	0	broad.mit.edu	GRCh37	7	55233110	55233110	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-6191-01	TCGA-76-6191-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.1860C>G	p.Cys620Trp	p.C620W	ENST00000275493	NM_005228.3	620	tgC/tgG	0			1			G	C/W	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	1860/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.C620Y(1)|p.C620W(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(1858-1860)TGC>TGG			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,Gene3D:2.10.220.10,Pfam_domain:PF14843,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		15/28									COSM29341	15/28	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55233110C>G	3236			MODERATE		4.095	high	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=482&re=681&var=C620W	getma.org/pdb.php?prot=EGFR_HUMAN&from=482&to=681&var=C620W	getma.org/?cm=var&var=hg19,7,55233110,C,G&fts=all	C620W	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqi.2_Missense_Mutation_p.C620W|EGFR_uc003tqj.2_Missense_Mutation_p.C620W|EGFR_uc010kzg.1_Missense_Mutation_p.C575W|EGFR_uc011kco.1_Missense_Mutation_p.C567W|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA	1	1		possibly_damaging(0.881)	p.C620W	NM_005228	NP_005219		deleterious(0)	1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		15	2106	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	620			Extracellular (Potential).		SNV	EGFR,missense_variant,p.Cys620Trp,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Cys567Trp,ENST00000454757,;EGFR,missense_variant,p.Cys575Trp,ENST00000455089,;EGFR,missense_variant,p.Cys620Trp,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Cys620Trp,ENST00000442591,;EGFR,missense_variant,p.Cys620Trp,ENST00000342916,NM_201282.1;	uc003tqk.2	c.1860C>G	2037/9821	3	3		8	c.1860C>G	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(1858-1860)TGC>TGG	16	16		p.C620Y(1)|p.C620W(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55233110	Lung_Cancer_Familial_Clustering_of	0.542	ENSG00000146648	4882	g.chr7:55233110C>G	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	35.626225	KEEP	10	9	-1	29	32	10	9	-1	41.181464	29	32	0.211268	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	G			EGFR_uc003tqi.2_Missense_Mutation_p.C620W|EGFR_uc003tqj.2_Missense_Mutation_p.C620W|EGFR_uc010kzg.1_Missense_Mutation_p.C575W|EGFR_uc011kco.1_Missense_Mutation_p.C567W|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA	274	GBM-76-6191-TP	p.C620W	C	GCCACCTGTGCCATCCAAACT	NM_005228	NP_005219	55233110	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		15	2106	+	G	G	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	620			Extracellular (Potential).			
EGFR	0	broad.mit.edu	GRCh37	7	55221710	55221710	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-81-5910-01	TCGA-81-5910-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275493.2:c.754C>T	p.Arg252Cys	p.R252C	ENST00000275493	NM_005228.3	252	Cgc/Tgc	0			1			T	R/C	uc003tqk.2	protein_coding	YES	CCDS5514.1		8	754/3633	A|O|Mis			NSCLC	glioma|NSCLC			p.V30_R297>G(5)|p.R252C(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	c.(754-756)CGC>TGC			Superfamily_domains:SSF57184,PIRSF_domain:PIRSF000619,SMART_domains:SM00261,Pfam_domain:PF00757,Gene3D:2.10.220.10,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416	epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			ENSP00000275493		28-Jul									COSM35752,COSM1559807	28-Jul	.	Lung_Cancer_Familial_Clustering_of	ENST00000275493	Transcript	1		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000146648	g.chr7:55221710C>T	3236			MODERATE		3.33	medium	getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=177&re=338&var=R252C	getma.org/pdb.php?prot=EGFR_HUMAN&from=177&to=338&var=R252C	getma.org/?cm=var&var=hg19,7,55221710,C,T&fts=all	R252C	--	--	1				TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																														EGFR_uc003tqh.2_Missense_Mutation_p.R252C|EGFR_uc003tqi.2_Missense_Mutation_p.R252C|EGFR_uc003tqj.2_Missense_Mutation_p.R252C|EGFR_uc010kzg.1_Missense_Mutation_p.R207C|EGFR_uc011kco.1_Missense_Mutation_p.R199C|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	1,1	1		possibly_damaging(0.899)	p.R252C	NM_005228	NP_005219		deleterious(0.03)	1,1	EGFR_HUMAN	EGFR	HGNC	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN		7	1000	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		UPI000003E750	252			Approximate.|Extracellular (Potential).		SNV	EGFR,missense_variant,p.Arg252Cys,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Arg199Cys,ENST00000454757,;EGFR,missense_variant,p.Arg207Cys,ENST00000455089,;EGFR,missense_variant,p.Arg252Cys,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Arg252Cys,ENST00000442591,;EGFR,missense_variant,p.Arg252Cys,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Arg252Cys,ENST00000420316,NM_201283.1;	uc003tqk.2	c.754C>T	931/9821	2	2		8	c.754C>T	A|O|Mis			NSCLC	glioma|NSCLC	7	SNP	c.(754-756)CGC>TGC	35	35		p.V30_R297>G(5)|p.R252C(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	Broad	epidermal growth factor receptor isoform a		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	55221710	Lung_Cancer_Familial_Clustering_of	0.582	ENSG00000146648	4882	g.chr7:55221710C>T	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			608			608	75.442205	KEEP	33	67	-1	372	525	33	67	-1	217.251405	372	525	0.098751	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	0	T			EGFR_uc003tqh.2_Missense_Mutation_p.R252C|EGFR_uc003tqi.2_Missense_Mutation_p.R252C|EGFR_uc003tqj.2_Missense_Mutation_p.R252C|EGFR_uc010kzg.1_Missense_Mutation_p.R207C|EGFR_uc011kco.1_Missense_Mutation_p.R199C|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	289	GBM-81-5910-TP	p.R252C	C	ATAGGTCTGCCGCAAATTCCG	NM_005228	NP_005219	55221710	P00533	EGFR_HUMAN	0	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1000	+	T	T	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		Missense_Mutation	252			Approximate.|Extracellular (Potential).			
EGFR	1956		GRCh37	7	55221822	55221822	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000275493.2:c.866C>T	p.Ala289Val	p.A289V	ENST00000275493	NM_005228.3	289	gCc/gTc	0																																																																																																																																																																																																																																												
EGFR	1956		GRCh37	7	55221763	55221763	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000275493.2:c.807C>G	p.Leu269=	p.L269=	ENST00000275493	NM_005228.3	269	ctC/ctG	0																																																																																																																																																																																																																																												
EGFR	1956		GRCh37	7	55221716	55221716	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000275493.2:c.760T>A	p.Phe254Ile	p.F254I	ENST00000275493	NM_005228.3	254	Ttc/Atc	0																																																																																																																																																																																																																																												
EGFR	1956		GRCh37	7	55220329	55220329	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000275493.2:c.719G>A	p.Cys240Tyr	p.C240Y	ENST00000275493	NM_005228.3	240	tGc/tAc	0																																																																																																																																																																																																																																												
EGFR	1956		GRCh37	7	55223543	55223543	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000275493.2:c.910C>T	p.His304Tyr	p.H304Y	ENST00000275493	NM_005228.3	304	Cac/Tac	0																																																																																																																																																																																																																																												
EGFR	1956		GRCh37	7	55221822	55221822	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000275493.2:c.866C>T	p.Ala289Val	p.A289V	ENST00000275493	NM_005228.3	289	gCc/gTc	0																																																																																																																																																																																																																																												
EGR1	0	broad.mit.edu	GRCh37	5	137801566	137801568	+	inframe_deletion	In_Frame_Del	DEL	TGC	TGC	-			TCGA-19-2625-01	TCGA-19-2625-01	TGC	TGC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000239938.4:c.121_123delCTG	p.Leu41del	p.L41del	ENST00000239938	NM_001964.2	39	aTGCtg/atg	0			1			-	ML/M	uc003ldb.1	protein_coding	YES	CCDS4206.1			116-118/1632									ovary(1)	1	c.(115-120)ATGCTG>ATG			hmmpanther:PTHR10042,hmmpanther:PTHR10042:SF7	early growth response 1				ENSP00000239938		2-Jan										2-Jan	.		ENST00000239938	Transcript			cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000120738	g.chr5:137801566_137801568delTGC	3238	5		MODERATE								--	--	1																																		EGR1_uc011cyu.1_In_Frame_Del_p.L41del		1			p.L41del	NM_001964	NP_001955				EGR1_HUMAN	EGR1	HGNC	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		Q546S1_HUMAN		1	386_388	+			UPI00000008CD	41					deletion	EGR1,inframe_deletion,p.Leu41del,ENST00000239938,NM_001964.2;	uc003ldb.1	c.116_118delTGC	388-390/3138	5	5			c.116_118delTGC						5	DEL	c.(115-120)ATGCTG>ATG	20	20			ovary(1)	1	Broad	early growth response 1			137801568		0.488	ENSG00000120738	4886	g.chr5:137801566_137801568delTGC	cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding																				0.22	1	1	0	1	0	0	0	0	0	--	--		0	-			EGR1_uc011cyu.1_In_Frame_Del_p.L41del	165	GBM-19-2625-TP	p.L41del	TGC	GAGGAGATGATGCTGCTGAGCAA	NM_001964	NP_001955	137801566	P18146	EGR1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		1	386_388	+	-	-			In_Frame_Del	41						
EGR1	0	broad.mit.edu	GRCh37	5	137803019	137803019	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-27-2527-01	TCGA-27-2527-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000239938.4:c.881C>A	p.Ala294Asp	p.A294D	ENST00000239938	NM_001964.2	294	gCc/gAc	0			1			A	A/D	uc003ldb.1	protein_coding	YES	CCDS4206.1			881/1632									ovary(1)	1	c.(880-882)GCC>GAC			hmmpanther:PTHR10042,hmmpanther:PTHR10042:SF7	early growth response 1				ENSP00000239938		2-Feb									COSM3409763	2-Feb	.		ENST00000239938	Transcript			cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000120738	g.chr5:137803019C>A	3238			MODERATE		2.74	medium	getma.org/?cm=msa&ty=f&p=EGR1_HUMAN&rb=220&re=353&var=A294D	NA	getma.org/?cm=var&var=hg19,5,137803019,C,A&fts=all	A294D	--	--	1																																		EGR1_uc011cyu.1_Intron	1	1		unknown(0)	p.A294D	NM_001964	NP_001955		deleterious(0)	1	EGR1_HUMAN	EGR1	HGNC	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		Q546S1_HUMAN		2	1151	+			UPI00000008CD	294					SNV	EGR1,missense_variant,p.Ala294Asp,ENST00000239938,NM_001964.2;	uc003ldb.1	c.881C>A	1153/3138	2	2			c.881C>A						5	SNP	c.(880-882)GCC>GAC	42	42			ovary(1)	1	Broad	early growth response 1			137803019		0.627	ENSG00000120738	4886	g.chr5:137803019C>A	cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							78.25297	KEEP	21	29	0.58	122	130	21	29	0.58	103.095818	122	130	0.174089	1	0	0	0	0	1	0	0	0	--	--		0	A			EGR1_uc011cyu.1_Intron	204	GBM-27-2527-TP	p.A294D	C	ACTATTAAGGCCTTTGCCACT	NM_001964	NP_001955	137803019	P18146	EGR1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	1151	+	A	A			Missense_Mutation	294						
EGR1	0	broad.mit.edu	GRCh37	5	137803130	137803130	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2615-01	TCGA-32-2615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000239938.4:c.992C>T	p.Thr331Met	p.T331M	ENST00000239938	NM_001964.2	331	aCg/aTg	0			1			T	T/M	uc003ldb.1	protein_coding	YES	CCDS4206.1			992/1632									ovary(1)	1	c.(991-993)ACG>ATG			hmmpanther:PTHR10042,hmmpanther:PTHR10042:SF7,Superfamily_domains:SSF57667	early growth response 1				ENSP00000239938		2-Feb									COSM1433393	2-Feb	.		ENST00000239938	Transcript			cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000120738	g.chr5:137803130C>T	3238			MODERATE		3.03	medium	getma.org/?cm=msa&ty=f&p=EGR1_HUMAN&rb=220&re=353&var=T331M	NA	getma.org/?cm=var&var=hg19,5,137803130,C,T&fts=all	T331M	--	--	1																																		EGR1_uc011cyu.1_Intron	1	1		unknown(0)	p.T331M	NM_001964	NP_001955		deleterious(0.01)	1	EGR1_HUMAN	EGR1	HGNC	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		Q546S1_HUMAN		2	1262	+			UPI00000008CD	331					SNV	EGR1,missense_variant,p.Thr331Met,ENST00000239938,NM_001964.2;	uc003ldb.1	c.992C>T	1264/3138	1	1			c.992C>T						5	SNP	c.(991-993)ACG>ATG	3	3			ovary(1)	1	Broad	early growth response 1			137803130		0.652	ENSG00000120738	4886	g.chr5:137803130C>T	cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							216.819434	KEEP	32	47	-1	47	69	32	47	-1	217.990272	47	69	0.413408	1	0	0	0	0	1	0	0	0	--	--		0	T			EGR1_uc011cyu.1_Intron	239	GBM-32-2615-TP	p.T331M	C	CCCAGCAAGACGCCCCCCCAC	NM_001964	NP_001955	137803130	P18146	EGR1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	1262	+	T	T			Missense_Mutation	331						
EGR2	1959	broad.mit.edu	GRCh37	10	64574066	64574066	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0745-01	TCGA-06-0745-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000242480.3:c.332G>C	p.Gly111Ala	p.G111A	ENST00000242480	NM_001136177.1	111	gGc/gCc	0			1			G	G/A	uc010qim.1	protein_coding	YES	CCDS7267.1			332/1431									ovary(2)	2	c.(331-333)GGC>GCC			Pfam_domain:PF11928,hmmpanther:PTHR10042,hmmpanther:PTHR10042:SF6	early growth response 2 protein isoform a				ENSP00000242480		2-Feb									COSM2151712	2-Feb	.		ENST00000242480	Transcript	1		fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	ENSG00000122877	g.chr10:64574066C>G	3239			MODERATE		2.075	medium	getma.org/?cm=msa&ty=f&p=EGR2_HUMAN&rb=94&re=184&var=G111A	NA	getma.org/?cm=var&var=hg19,10,64574066,C,G&fts=all	G111A	--	--	1																																		EGR2_uc010qin.1_Missense_Mutation_p.G61A|EGR2_uc001jmi.2_Missense_Mutation_p.G111A|EGR2_uc010qio.1_Missense_Mutation_p.G124A|EGR2_uc009xph.2_Missense_Mutation_p.G111A	1	1		probably_damaging(0.995)	p.G111A	NM_001136177	NP_001129649		deleterious(0.02)	1	EGR2_HUMAN	EGR2	HGNC	P11161	EGR2_HUMAN					3	486	-	Prostate(12;0.0297)|all_hematologic(501;0.228)		UPI000013CB07	111					SNV	EGR2,missense_variant,p.Gly111Ala,ENST00000242480,NM_001136177.1,NM_000399.3;EGR2,missense_variant,p.Gly61Ala,ENST00000411732,NM_001136179.1;EGR2,missense_variant,p.Gly111Ala,ENST00000439032,NM_001136178.1;EGR2,downstream_gene_variant,,ENST00000493899,;	uc010qim.1	c.332G>C	658/2968	3	3			c.332G>C						10	SNP	c.(331-333)GGC>GCC	64	64			ovary(2)	2	Broad	early growth response 2 protein isoform a			64574066		0.547	ENSG00000122877	4887	g.chr10:64574066C>G	fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding							141.93842	KEEP	31	17	-1	16	9	31	17	-1	142.720869	16	9	0.619048	1	0	0	0	0	1	0	0	0	--	--		0	G			EGR2_uc010qin.1_Missense_Mutation_p.G61A|EGR2_uc001jmi.2_Missense_Mutation_p.G111A|EGR2_uc010qio.1_Missense_Mutation_p.G124A|EGR2_uc009xph.2_Missense_Mutation_p.G111A	67	GBM-06-0745-TP	p.G111A	C	ATTGATTATGCCTTCTGGGTA	NM_001136177	NP_001129649	64574066	P11161	EGR2_HUMAN	0			3	486	-	G	G	Prostate(12;0.0297)|all_hematologic(501;0.228)		Missense_Mutation	111						
EGR3	1960		GRCh37	8	22550311	22550311	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000317216.2:c.147G>A	p.Met49Ile	p.M49I	ENST00000317216	NM_004430.2	49	atG/atA	0																																																																																																																																																																																																																																												
EHBP1	0	broad.mit.edu	GRCh37	2	63086375	63086375	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263991.5:c.811G>C	p.Asp271His	p.D271H	ENST00000263991	NM_015252.3	271	Gat/Cat	0			1			C	D/H	uc002sby.2	protein_coding	YES	CCDS1872.1			811/3696									ovary(1)|breast(1)	2	c.(811-813)GAT>CAT			hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF124	EH domain binding protein 1 isoform 1				ENSP00000263991		25-Sep									COSM3407926	25-Sep	.	Hereditary_Prostate_Cancer	ENST00000263991	Transcript	1			cytoplasm|membrane		ENSG00000115504	g.chr2:63086375G>C	29144			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=EHBP1_HUMAN&rb=191&re=429&var=D271H	NA	getma.org/?cm=var&var=hg19,2,63086375,G,C&fts=all	D271H	--	--	1																																		EHBP1_uc010fcp.2_Missense_Mutation_p.D236H|EHBP1_uc002sbx.2_Missense_Mutation_p.D236H|EHBP1_uc002sbz.2_Missense_Mutation_p.D236H|EHBP1_uc002scb.2_Missense_Mutation_p.D236H	1	1		possibly_damaging(0.548)	p.D271H	NM_015252	NP_056067		tolerated(0.1)	1	EHBP1_HUMAN	EHBP1	HGNC	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		C9K0H9_HUMAN,C9JEP1_HUMAN,C9J268_HUMAN,B3KM32_HUMAN		9	1293	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		UPI000013D49A	271					SNV	EHBP1,missense_variant,p.Asp271His,ENST00000263991,NM_015252.3;EHBP1,missense_variant,p.Asp236His,ENST00000431489,NM_001142616.1;EHBP1,missense_variant,p.Asp236His,ENST00000354487,NM_001142614.1;EHBP1,missense_variant,p.Asp236His,ENST00000405015,NM_001142615.2;EHBP1,missense_variant,p.Asp236His,ENST00000405289,;EHBP1,missense_variant,p.Asp236His,ENST00000405482,;EHBP1,downstream_gene_variant,,ENST00000449820,;AC007098.1,upstream_gene_variant,,ENST00000452397,;	uc002sby.2	c.811G>C	1293/5165	4	4			c.811G>C						2	SNP	c.(811-813)GAT>CAT	47	47			ovary(1)|breast(1)	2	Broad	EH domain binding protein 1 isoform 1			63086375	Hereditary_Prostate_Cancer	0.358	ENSG00000115504	4890	g.chr2:63086375G>C		cytoplasm|membrane				379			379	-22.09102	KEEP	4	1	-1	62	75	4	1	-1	8.517896	62	75	0.02459	1	0	0	0	0	1	0	0	0	--	--		0	C			EHBP1_uc010fcp.2_Missense_Mutation_p.D236H|EHBP1_uc002sbx.2_Missense_Mutation_p.D236H|EHBP1_uc002sbz.2_Missense_Mutation_p.D236H|EHBP1_uc002scb.2_Missense_Mutation_p.D236H	235	GBM-32-2491-TP	p.D271H	G	AAATCCATTTGATGATCCTGA	NM_015252	NP_056067	63086375	Q8NDI1	EHBP1_HUMAN	0	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		9	1293	+	C	C	Lung NSC(7;0.0951)|all_lung(7;0.169)		Missense_Mutation	271						
EHBP1L1	0	broad.mit.edu	GRCh37	11	65349460	65349460	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-12-5295-01	TCGA-12-5295-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309295.4:c.1317delA	p.Pro440GlnfsTer6	p.P440Qfs*6	ENST00000309295	NM_001099409.1	439	ggA/gg	0			1			-	G/X	uc001oeo.3	protein_coding	YES	CCDS44649.1			1317/4572									central_nervous_system(1)	1	c.(1315-1317)GGAfs			hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF112	tangerin				ENSP00000312671		19-Sep										19-Sep	.		ENST00000309295	Transcript						ENSG00000173442	g.chr11:65349460delA	30682			HIGH								--	--	1																																		EHBP1L1_uc001oep.1_Intron		1			p.G439fs	NM_001099409	NP_001092879				EH1L1_HUMAN	EHBP1L1	HGNC	Q8N3D4	EH1L1_HUMAN					9	1582	+			UPI00001605A9	439					deletion	EHBP1L1,frameshift_variant,p.Pro440GlnfsTer6,ENST00000309295,NM_001099409.1;EHBP1L1,frameshift_variant,p.Pro440GlnfsTer6,ENST00000533237,;EHBP1L1,intron_variant,,ENST00000533465,;EHBP1L1,upstream_gene_variant,,ENST00000529099,;EHBP1L1,downstream_gene_variant,,ENST00000531106,;EHBP1L1,non_coding_transcript_exon_variant,,ENST00000526990,;	uc001oeo.3	c.1317delA	1582/5185	5	5			c.1317delA						11	DEL	c.(1315-1317)GGAfs	42	42			central_nervous_system(1)	1	Broad	tangerin			65349460		0.597	ENSG00000173442	4891	g.chr11:65349460delA																							0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			EHBP1L1_uc001oep.1_Intron	129	GBM-12-5295-TP	p.G439fs	A	ACACTAAGGGACCAGAGGCGA	NM_001099409	NP_001092879	65349460	Q8N3D4	EH1L1_HUMAN	0			9	1582	+	-	-			Frame_Shift_Del	439						
EHD3	30845	broad.mit.edu	GRCh37	2	31483602	31483602	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0645-01	TCGA-06-0645-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322054.5:c.729C>T	p.Ile243=	p.I243=	ENST00000322054	NM_014600.2	243	atC/atT	0			1			T	I	uc002rnu.2	protein_coding	YES	CCDS1774.1			729/1608									skin(2)	2	c.(727-729)ATC>ATT			PROSITE_profiles:PS51718,hmmpanther:PTHR11216:SF67,hmmpanther:PTHR11216,Superfamily_domains:SSF52540	EH-domain containing 3				ENSP00000327116		6-Apr	8.24E-06					1.50E-05			rs758911736,COSM3407818	6-Apr	.		ENST00000322054	Transcript			blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	ENSG00000013016	g.chr2:31483602C>T	3244			LOW								--	--	1																																		EHD3_uc010ymt.1_Intron	0,1	1			p.I243I	NM_014600	NP_055415			0,1	EHD3_HUMAN	EHD3	HGNC	Q9NZN3	EHD3_HUMAN					4	1337	+	Acute lymphoblastic leukemia(172;0.155)		UPI0000140D07	243					SNV	EHD3,synonymous_variant,p.=,ENST00000322054,NM_014600.2;EHD3,intron_variant,,ENST00000541626,;	uc002rnu.2	c.729C>T	1014/4636	2	2			c.729C>T						2	SNP	c.(727-729)ATC>ATT	33	33			skin(2)	2	Broad	EH-domain containing 3			31483602		0.592	ENSG00000013016	4894	g.chr2:31483602C>T	blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding							-9.906057	KEEP	3	3	-1	47	50	3	3	-1	10.185456	47	50	0.052632	1	0	0	0	0	0	0	1	0	--	--		0	T			EHD3_uc010ymt.1_Intron	59	GBM-06-0645-TP	p.I243I	C	TGGGGAAGATCGTGAACACCC	NM_014600	NP_055415	31483602	Q9NZN3	EHD3_HUMAN	0			4	1337	+	T	T	Acute lymphoblastic leukemia(172;0.155)		Silent	243						
EHD3	0	broad.mit.edu	GRCh37	2	31484555	31484555	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01	TCGA-14-3476-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322054.5:c.1056C>A	p.Asp352Glu	p.D352E	ENST00000322054	NM_014600.2	352	gaC/gaA	0			1			A	D/E	uc002rnu.2	protein_coding	YES	CCDS1774.1			1056/1608									skin(2)	2	c.(1054-1056)GAC>GAA			hmmpanther:PTHR11216:SF67,hmmpanther:PTHR11216	EH-domain containing 3				ENSP00000327116		6-May									COSM3407821	6-May	.		ENST00000322054	Transcript			blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	ENSG00000013016	g.chr2:31484555C>A	3244			MODERATE		3.655	high	getma.org/?cm=msa&ty=f&p=EHD3_HUMAN&rb=222&re=421&var=D352E	getma.org/pdb.php?prot=EHD3_HUMAN&from=222&to=421&var=D352E	getma.org/?cm=var&var=hg19,2,31484555,C,A&fts=all	D352E	--	--	1																																		EHD3_uc010ymt.1_Intron	1	1		possibly_damaging(0.615)	p.D352E	NM_014600	NP_055415		deleterious(0)	1	EHD3_HUMAN	EHD3	HGNC	Q9NZN3	EHD3_HUMAN					5	1664	+	Acute lymphoblastic leukemia(172;0.155)		UPI0000140D07	352					SNV	EHD3,missense_variant,p.Asp352Glu,ENST00000322054,NM_014600.2;EHD3,intron_variant,,ENST00000541626,;	uc002rnu.2	c.1056C>A	1341/4636	2	2			c.1056C>A						2	SNP	c.(1054-1056)GAC>GAA	36	36			skin(2)	2	Broad	EH-domain containing 3			31484555		0.592	ENSG00000013016	4894	g.chr2:31484555C>A	blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding							9.615851	KEEP	12	12	0.5	107	120	12	12	0.5	46.513394	107	120	0.09417	1	0	0	0	0	1	0	0	0	--	--		0	A			EHD3_uc010ymt.1_Intron	151	GBM-14-3476-TP	p.D352E	C	CACCTGGGGACTTCCCCAATC	NM_014600	NP_055415	31484555	Q9NZN3	EHD3_HUMAN	0			5	1664	+	A	A	Acute lymphoblastic leukemia(172;0.155)		Missense_Mutation	352						
EHD3	0	broad.mit.edu	GRCh37	2	31467312	31467312	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-16-0861-01	TCGA-16-0861-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322054.5:c.400A>T	p.Asn134Tyr	p.N134Y	ENST00000322054	NM_014600.2	134	Aac/Tac	0			1			T	N/Y	uc002rnu.2	protein_coding	YES	CCDS1774.1			400/1608									skin(2)	2	c.(400-402)AAC>TAC			PROSITE_profiles:PS51718,hmmpanther:PTHR11216:SF67,hmmpanther:PTHR11216,Pfam_domain:PF00350,Superfamily_domains:SSF52540	EH-domain containing 3				ENSP00000327116		6-Feb									COSM3407817	6-Feb	.		ENST00000322054	Transcript			blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	ENSG00000013016	g.chr2:31467312A>T	3244			MODERATE		3.315	medium	getma.org/?cm=msa&ty=f&p=EHD3_HUMAN&rb=61&re=221&var=N134Y	getma.org/pdb.php?prot=EHD3_HUMAN&from=61&to=221&var=N134Y	getma.org/?cm=var&var=hg19,2,31467312,A,T&fts=all	N134Y	--	--	1																																		EHD3_uc010ymt.1_Missense_Mutation_p.N134Y	1	1		probably_damaging(0.961)	p.N134Y	NM_014600	NP_055415		deleterious(0)	1	EHD3_HUMAN	EHD3	HGNC	Q9NZN3	EHD3_HUMAN					2	1008	+	Acute lymphoblastic leukemia(172;0.155)		UPI0000140D07	134					SNV	EHD3,missense_variant,p.Asn134Tyr,ENST00000322054,NM_014600.2;EHD3,missense_variant,p.Asn134Tyr,ENST00000541626,;	uc002rnu.2	c.400A>T	685/4636	2	2			c.400A>T						2	SNP	c.(400-402)AAC>TAC	36	36			skin(2)	2	Broad	EH-domain containing 3			31467312		0.537	ENSG00000013016	4894	g.chr2:31467312A>T	blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding							72.028626	KEEP	10	19	-1	29	26	10	19	-1	73.359509	29	26	0.356164	1	0	0	0	0	1	0	0	0	--	--		0	T			EHD3_uc010ymt.1_Missense_Mutation_p.N134Y	156	GBM-16-0861-TP	p.N134Y	A	CGCCTTCTTGAACAGGTGAGT	NM_014600	NP_055415	31467312	Q9NZN3	EHD3_HUMAN	0			2	1008	+	T	T	Acute lymphoblastic leukemia(172;0.155)		Missense_Mutation	134						
EHD3	0	broad.mit.edu	GRCh37	2	31483756	31483756	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-26-6174-01	TCGA-26-6174-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322054.5:c.883A>G	p.Asn295Asp	p.N295D	ENST00000322054	NM_014600.2	295	Aac/Gac	0			1			G	N/D	uc002rnu.2	protein_coding	YES	CCDS1774.1			883/1608									skin(2)	2	c.(883-885)AAC>GAC			hmmpanther:PTHR11216:SF67,hmmpanther:PTHR11216,Superfamily_domains:SSF52540	EH-domain containing 3				ENSP00000327116		6-Apr									COSM3407819	6-Apr	.		ENST00000322054	Transcript			blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	ENSG00000013016	g.chr2:31483756A>G	3244			MODERATE		2.535	medium	getma.org/?cm=msa&ty=f&p=EHD3_HUMAN&rb=222&re=421&var=N295D	getma.org/pdb.php?prot=EHD3_HUMAN&from=222&to=421&var=N295D	getma.org/?cm=var&var=hg19,2,31483756,A,G&fts=all	N295D	--	--	1																																		EHD3_uc010ymt.1_Intron	1	1		benign(0.216)	p.N295D	NM_014600	NP_055415		deleterious(0)	1	EHD3_HUMAN	EHD3	HGNC	Q9NZN3	EHD3_HUMAN					4	1491	+	Acute lymphoblastic leukemia(172;0.155)		UPI0000140D07	295					SNV	EHD3,missense_variant,p.Asn295Asp,ENST00000322054,NM_014600.2;EHD3,intron_variant,,ENST00000541626,;	uc002rnu.2	c.883A>G	1168/4636	4	4			c.883A>G						2	SNP	c.(883-885)AAC>GAC	21	21			skin(2)	2	Broad	EH-domain containing 3			31483756		0.622	ENSG00000013016	4894	g.chr2:31483756A>G	blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding							43.57304	KEEP	8	11	-1	26	30	8	11	-1	47.383025	26	30	0.246154	1	0	0	0	0	1	0	0	0	--	--		0	G			EHD3_uc010ymt.1_Intron	188	GBM-26-6174-TP	p.N295D	A	GCGCAAGCTCAACGACCTCAT	NM_014600	NP_055415	31483756	Q9NZN3	EHD3_HUMAN	0			4	1491	+	G	G	Acute lymphoblastic leukemia(172;0.155)		Missense_Mutation	295						
EHD3	30845		GRCh37	2	31483729	31483729	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000322054.5:c.856C>T	p.Pro286Ser	p.P286S	ENST00000322054	NM_014600.2	286	Ccc/Tcc	0																																																																																																																																																																																																																																												
EHD4	30844	broad.mit.edu	GRCh37	15	42193062	42193062	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0155-01	TCGA-06-0155-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000220325.4:c.1407C>T	p.Asn469=	p.N469=	ENST00000220325	NM_139265.3	469	aaC/aaT	0			1			A	N	uc001zot.2	protein_coding	YES	CCDS10081.1			1407/1626									ovary(2)	2	c.(1405-1407)AAC>AAT			Superfamily_domains:SSF47473,SMART_domains:SM00027,Pfam_domain:PF12763,Gene3D:1.10.238.10,hmmpanther:PTHR11216:SF57,hmmpanther:PTHR11216,PROSITE_profiles:PS50031	EH-domain containing 4				ENSP00000220325		6-Jun									COSM2149981	6-Jun	.		ENST00000220325	Transcript			endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	ENSG00000103966	g.chr15:42193062G>A	3245			LOW								--	--	1																																			1	1			p.N469N	NM_139265	NP_644670			1	EHD4_HUMAN	EHD4	HGNC	Q9H223	EHD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)			6	1470	-		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	UPI0000129E25	469			EH.		SNV	EHD4,synonymous_variant,p.=,ENST00000220325,NM_139265.3;RP11-23P13.7,upstream_gene_variant,,ENST00000605942,;RP11-23P13.6,downstream_gene_variant,,ENST00000309874,;RP11-23P13.6,downstream_gene_variant,,ENST00000568861,;RP11-23P13.6,downstream_gene_variant,,ENST00000564432,;RP11-23P13.6,downstream_gene_variant,,ENST00000562920,;	uc001zot.2	c.1407C>T	1491/3603	2	2			c.1407C>T						15	SNP	c.(1405-1407)AAC>AAT	24	24			ovary(2)	2	Broad	EH-domain containing 4			42193062		0.592	ENSG00000103966	4895	g.chr15:42193062G>A	endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding							75.065216	KEEP	14	16	-1	32	39	14	16	-1	78.351461	32	39	0.301075	1	0	0	0	0	0	0	1	0	--	--		0	A				27	GBM-06-0155-TP	p.N469N	G	CCTTCTTGGCGTTGACACCTG	NM_139265	NP_644670	42193062	Q9H223	EHD4_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)	6	1470	-	A	A		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	Silent	469			EH.			
EHD4	30844		GRCh37	15	42193062	42193062	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000220325.4:c.1407C>T	p.Asn469=	p.N469=	ENST00000220325	NM_139265.3	469	aaC/aaT	0																																																																																																																																																																																																																																												
EHD4	30844		GRCh37	15	42193062	42193062	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000220325.4:c.1407C>T	p.Asn469=	p.N469=	ENST00000220325	NM_139265.3	469	aaC/aaT	0																																																																																																																																																																																																																																												
EHHADH	0	broad.mit.edu	GRCh37	3	184910535	184910535	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs138388673	byFrequency	TCGA-76-6191-01	TCGA-76-6191-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000231887.3:c.1651C>T	p.Arg551Ter	p.R551*	ENST00000231887	NM_001166415.1	551	Cga/Tga	0	A:0	A:0.0008	1	A:0		A	R/*	uc003fpf.2	protein_coding	YES	CCDS33901.1			1651/2172									ovary(3)	3	c.(1651-1653)CGA>TGA			hmmpanther:PTHR23309,hmmpanther:PTHR23309:SF1,Pfam_domain:PF00725,Gene3D:1.10.1040.10,Superfamily_domains:SSF48179	enoyl-Coenzyme A, hydratase/3-hydroxyacyl	NADH(DB00157)	A:0	A:0.0002	ENSP00000231887	A:0	7-Jul	0.000346	9.61E-05		0.000231		0.00018		0.00164	rs138388673	7-Jul	common_variant		ENST00000231887	Transcript	1	A:0.0004		peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	ENSG00000113790	g.chr3:184910535G>A	3247			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,3,184910535,G,A&fts=all	R551*	--	--	1																																		EHHADH_uc011brs.1_Nonsense_Mutation_p.R455*		1			p.R551*	NM_001966	NP_001957	A:0.001			ECHP_HUMAN	EHHADH	HGNC	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)				7	1678	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		UPI000013C959	551			3-hydroxyacyl-CoA dehydrogenase.		SNV	EHHADH,stop_gained,p.Arg551Ter,ENST00000231887,NM_001166415.1,NM_001966.3;EHHADH,stop_gained,p.Arg455Ter,ENST00000456310,;EHHADH-AS1,downstream_gene_variant,,ENST00000417720,;	uc003fpf.2	c.1651C>T	1727/3850	5	2			c.1651C>T						3	SNP	c.(1651-1653)CGA>TGA	40	40			ovary(3)	3	Broad	enoyl-Coenzyme A, hydratase/3-hydroxyacyl		NADH(DB00157)	184910535		0.473	ENSG00000113790	4897	g.chr3:184910535G>A		peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity							73.745801	KEEP	12	12	-1	16	13	12	12	-1	73.856713	16	13	0.44898	1	0	0	0	0	0	1	0	0	--	--		0	A			EHHADH_uc011brs.1_Nonsense_Mutation_p.R455*	274	GBM-76-6191-TP	p.R551*	G	CCCCTTTTTCGGGCAGGAGTT	NM_001966	NP_001957	184910535	Q08426	ECHP_HUMAN	0	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		7	1678	-	A	A	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Nonsense_Mutation	551			3-hydroxyacyl-CoA dehydrogenase.			
EHMT2	10919	broad.mit.edu	GRCh37	6	31852241	31852241	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375537.4:c.2699C>T	p.Ala900Val	p.A900V	ENST00000375537	NM_006709.3	900	gCg/gTg	0			1			A	A/V	uc003nxz.1	protein_coding	YES	CCDS4725.1			2699/3633									ovary(1)	1	c.(2698-2700)GCG>GTG			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF306	euchromatic histone-lysine N-methyltransferase 2				ENSP00000364687		21/28	8.46E-06					1.59E-05			rs760598456,COSM3410951,COSM3410952	21/28	.		ENST00000375537	Transcript			DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	ENSG00000204371	g.chr6:31852241G>A	14129			MODERATE		1.81	low	getma.org/?cm=msa&ty=f&p=EHMT2_HUMAN&rb=883&re=924&var=A900V	NA	getma.org/?cm=var&var=hg19,6,31852241,G,A&fts=all	A900V	--	--	1																																		EHMT2_uc003nxv.1_5'UTR|EHMT2_uc003nxw.1_5'UTR|EHMT2_uc003nxx.1_Missense_Mutation_p.A98V|EHMT2_uc003nxy.1_Missense_Mutation_p.A698V|EHMT2_uc011don.1_Missense_Mutation_p.A923V|EHMT2_uc003nya.1_Missense_Mutation_p.A866V	0,1,1	1		possibly_damaging(0.837)	p.A900V	NM_006709	NP_006700		deleterious(0.02)	0,1,1	EHMT2_HUMAN	EHMT2	HGNC	Q96KQ7	EHMT2_HUMAN					21	2709	-			UPI000013D085	900					SNV	EHMT2,missense_variant,p.Ala957Val,ENST00000395728,;EHMT2,missense_variant,p.Ala923Val,ENST00000375528,;EHMT2,missense_variant,p.Ala900Val,ENST00000375537,NM_006709.3;EHMT2,missense_variant,p.Ala866Val,ENST00000375530,NM_025256.5;EHMT2,missense_variant,p.Ala231Val,ENST00000436026,;EHMT2-AS1,downstream_gene_variant,,ENST00000434689,;EHMT2,non_coding_transcript_exon_variant,,ENST00000480912,;EHMT2,non_coding_transcript_exon_variant,,ENST00000478491,;EHMT2,non_coding_transcript_exon_variant,,ENST00000494816,;EHMT2,non_coding_transcript_exon_variant,,ENST00000461880,;EHMT2,downstream_gene_variant,,ENST00000477678,;	uc003nxz.1	c.2699C>T	2706/3965	2	2			c.2699C>T						6	SNP	c.(2698-2700)GCG>GTG	36	36			ovary(1)	1	Broad	euchromatic histone-lysine N-methyltransferase 2			31852241		0.612	ENSG00000204371	4899	g.chr6:31852241G>A	DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding							-48.629288	KEEP	2	2	-1	109	129	2	2	-1	6.506957	109	129	0.018868	1	0	0	0	0	1	0	0	0	--	--		0	A			EHMT2_uc003nxv.1_5'UTR|EHMT2_uc003nxw.1_5'UTR|EHMT2_uc003nxx.1_Missense_Mutation_p.A98V|EHMT2_uc003nxy.1_Missense_Mutation_p.A698V|EHMT2_uc011don.1_Missense_Mutation_p.A923V|EHMT2_uc003nya.1_Missense_Mutation_p.A866V	102	GBM-06-5858-TP	p.A900V	G	GAGTTGAAGCGCAAACCACAC	NM_006709	NP_006700	31852241	Q96KQ7	EHMT2_HUMAN	0			21	2709	-	A	A			Missense_Mutation	900						
EHMT2	10919	broad.mit.edu	GRCh37	6	31847948	31847948	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-06-6389-01	TCGA-06-6389-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375537.4:c.3546T>A	p.Ile1182=	p.I1182=	ENST00000375537	NM_006709.3	1182	atT/atA	0			1			T	I	uc003nxz.1	protein_coding	YES	CCDS4725.1			3546/3633									ovary(1)	1	c.(3544-3546)ATT>ATA			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF306	euchromatic histone-lysine N-methyltransferase 2				ENSP00000364687		28/28									COSM2153417	28/28	.		ENST00000375537	Transcript			DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	ENSG00000204371	g.chr6:31847948A>T	14129			LOW								--	--	1																																		EHMT2_uc003nxv.1_Silent_p.I221I|EHMT2_uc003nxw.1_Silent_p.I221I|EHMT2_uc003nxx.1_Silent_p.I380I|EHMT2_uc003nxy.1_Silent_p.I980I|EHMT2_uc011don.1_Silent_p.I1205I|EHMT2_uc003nya.1_Silent_p.I1148I|SLC44A4_uc010jti.2_5'Flank|SLC44A4_uc011dol.1_5'Flank|SLC44A4_uc011dom.1_5'Flank	1	1			p.I1182I	NM_006709	NP_006700			1	EHMT2_HUMAN	EHMT2	HGNC	Q96KQ7	EHMT2_HUMAN					28	3556	-			UPI000013D085	1182					SNV	EHMT2,synonymous_variant,p.=,ENST00000395728,;EHMT2,synonymous_variant,p.=,ENST00000375528,;EHMT2,synonymous_variant,p.=,ENST00000375537,NM_006709.3;EHMT2,synonymous_variant,p.=,ENST00000375530,NM_025256.5;SLC44A4,upstream_gene_variant,,ENST00000544672,NM_001178045.1;SLC44A4,upstream_gene_variant,,ENST00000229729,NM_025257.2;SLC44A4,upstream_gene_variant,,ENST00000375562,NM_001178044.1;SLC44A4,upstream_gene_variant,,ENST00000414427,;EHMT2,downstream_gene_variant,,ENST00000436026,;EHMT2-AS1,upstream_gene_variant,,ENST00000434689,;EHMT2,non_coding_transcript_exon_variant,,ENST00000480912,;EHMT2,non_coding_transcript_exon_variant,,ENST00000478491,;SLC44A4,upstream_gene_variant,,ENST00000465707,;SLC44A4,upstream_gene_variant,,ENST00000462671,;EHMT2,non_coding_transcript_exon_variant,,ENST00000494816,;EHMT2,non_coding_transcript_exon_variant,,ENST00000461880,;EHMT2,downstream_gene_variant,,ENST00000477678,;	uc003nxz.1	c.3546T>A	3553/3965	2	2			c.3546T>A						6	SNP	c.(3544-3546)ATT>ATA	32	32			ovary(1)	1	Broad	euchromatic histone-lysine N-methyltransferase 2			31847948		0.592	ENSG00000204371	4899	g.chr6:31847948A>T	DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding							68.278085	KEEP	13	9	-1	11	10	13	9	-1	68.299989	11	10	0.525	1	0	0	0	0	0	0	1	0	--	--		0	T			EHMT2_uc003nxv.1_Silent_p.I221I|EHMT2_uc003nxw.1_Silent_p.I221I|EHMT2_uc003nxx.1_Silent_p.I380I|EHMT2_uc003nxy.1_Silent_p.I980I|EHMT2_uc011don.1_Silent_p.I1205I|EHMT2_uc003nya.1_Silent_p.I1148I|SLC44A4_uc010jti.2_5'Flank|SLC44A4_uc011dol.1_5'Flank|SLC44A4_uc011dom.1_5'Flank	105	GBM-06-6389-TP	p.I1182I	A	GCTCCAGGGCAATGGCTTCGG	NM_006709	NP_006700	31847948	Q96KQ7	EHMT2_HUMAN	0			28	3556	-	T	T			Silent	1182						
EHMT2	0	broad.mit.edu	GRCh37	6	31856011	31856011	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01	TCGA-76-6192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375537.4:c.1552C>T	p.Arg518Cys	p.R518C	ENST00000375537	NM_006709.3	518	Cgc/Tgc	0			1			A	R/C	uc003nxz.1	protein_coding	YES	CCDS4725.1			1552/3633									ovary(1)	1	c.(1552-1554)CGC>TGC			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF306	euchromatic histone-lysine N-methyltransferase 2				ENSP00000364687		13/28									COSM3410953,COSM3410954	13/28	.		ENST00000375537	Transcript			DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	ENSG00000204371	g.chr6:31856011G>A	14129			MODERATE		2.05	medium	getma.org/?cm=msa&ty=f&p=EHMT2_HUMAN&rb=419&re=618&var=R518C	NA	getma.org/?cm=var&var=hg19,6,31856011,G,A&fts=all	R518C	--	--	1																																		EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Missense_Mutation_p.R309C|EHMT2_uc011don.1_Missense_Mutation_p.R541C|EHMT2_uc003nya.1_Missense_Mutation_p.R484C	1,1	1		possibly_damaging(0.704)	p.R518C	NM_006709	NP_006700		deleterious(0)	1,1	EHMT2_HUMAN	EHMT2	HGNC	Q96KQ7	EHMT2_HUMAN					13	1562	-			UPI000013D085	518					SNV	EHMT2,missense_variant,p.Arg575Cys,ENST00000395728,;EHMT2,missense_variant,p.Arg541Cys,ENST00000375528,;EHMT2,missense_variant,p.Arg518Cys,ENST00000375537,NM_006709.3;EHMT2,missense_variant,p.Arg484Cys,ENST00000375530,NM_025256.5;EHMT2,upstream_gene_variant,,ENST00000436026,;EHMT2-AS1,downstream_gene_variant,,ENST00000434689,;EHMT2,non_coding_transcript_exon_variant,,ENST00000480912,;EHMT2,upstream_gene_variant,,ENST00000478491,;EHMT2,upstream_gene_variant,,ENST00000494816,;EHMT2,upstream_gene_variant,,ENST00000461880,;EHMT2,upstream_gene_variant,,ENST00000477678,;EHMT2,downstream_gene_variant,,ENST00000463484,;	uc003nxz.1	c.1552C>T	1559/3965	2	2			c.1552C>T						6	SNP	c.(1552-1554)CGC>TGC	30	30			ovary(1)	1	Broad	euchromatic histone-lysine N-methyltransferase 2			31856011		0.622	ENSG00000204371	4899	g.chr6:31856011G>A	DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding							50.454808	KEEP	13	6	-1	21	28	13	6	-1	52.240834	21	28	0.309091	1	0	0	0	0	1	0	0	0	--	--		0	A			EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Missense_Mutation_p.R309C|EHMT2_uc011don.1_Missense_Mutation_p.R541C|EHMT2_uc003nya.1_Missense_Mutation_p.R484C	275	GBM-76-6192-TP	p.R518C	G	TTGTGGAAGCGGTGGGCCACA	NM_006709	NP_006700	31856011	Q96KQ7	EHMT2_HUMAN	0			13	1562	-	A	A			Missense_Mutation	518						
EIF1AX	0	broad.mit.edu	GRCh37	X	20148634	20148634	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A			TCGA-27-1835-01	TCGA-27-1835-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379607.5:c.429C>T	p.Asp143=	p.D143=	ENST00000379607	NM_001412.3	143	gaC/gaT	0			1			A	D	uc004czt.2	protein_coding	YES	CCDS14196.1			429/435									ovary(1)	1	c.(427-429)GAC>GAT			Low_complexity_(Seg):seg,hmmpanther:PTHR21668,hmmpanther:PTHR21668:SF2,Gene3D:2.40.50.140,Superfamily_domains:SSF50249	X-linked eukaryotic translation initiation				ENSP00000368927		7-Jun	8.24E-06					2.14E-05			rs768926880,COSM2157217	7-Jun	.		ENST00000379607	Transcript	1			cytosol	translation initiation factor activity	ENSG00000173674	g.chrX:20148634G>A	3250			LOW								--	--	1																																			0,1	1			p.D143D	NM_001412	NP_001403			0,1	IF1AX_HUMAN	EIF1AX	HGNC	P47813	IF1AX_HUMAN					6	637	-			UPI00000041DF	143					SNV	EIF1AX,splice_region_variant,p.=,ENST00000379607,NM_001412.3;EIF1AX,splice_region_variant,p.=,ENST00000379593,;	uc004czt.2	c.429C>T	633/4427	1	1			c.429C>T						23	SNP	c.(427-429)GAC>GAT	49	49			ovary(1)	1	Broad	X-linked eukaryotic translation initiation			20148634		0.338	ENSG00000173674	4907	g.chrX:20148634G>A		cytosol	translation initiation factor activity							127.869604	KEEP	22	24	-1	41	42	22	24	-1	129.847795	41	42	0.363636	1	0	0	0	0	0	0	1	0	--	--		0	A				194	GBM-27-1835-TP	p.D143D	G	ATCTACTTACGTCATCAATAT	NM_001412	NP_001403	20148634	P47813	IF1AX_HUMAN	0			6	637	-	A	A			Silent	143						
EIF2AK2	0	broad.mit.edu	GRCh37	2	37376027	37376027	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T			TCGA-26-5134-01	TCGA-26-5134-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000233057.4:c.-44G>A		*15*	ENST00000233057	NM_001135651.2			0			1			T		uc010ynh.1	protein_coding	YES	CCDS1786.1			-/1656									ovary(2)|lung(2)|pancreas(1)	5	c.(-45--41)GCGTG>GCATG				eukaryotic translation initiation factor 2-alpha				ENSP00000233057		17-Feb										17-Feb	.		ENST00000233057	Transcript			evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity	ENSG00000055332	g.chr2:37376027C>T	9437			MODIFIER								--	--	1																																		EIF2AK2_uc010fab.1_5'Flank|EIF2AK2_uc010yng.1_5'Flank|EIF2AK2_uc010fac.2_Translation_Start_Site|EIF2AK2_uc010fad.2_Translation_Start_Site		1				NM_002759	NP_002750				E2AK2_HUMAN	EIF2AK2	HGNC	P19525	E2AK2_HUMAN			F8WBH4_HUMAN,C9JZT2_HUMAN,B7ZKK7_HUMAN		2	514	-		all_hematologic(82;0.248)	UPI000000D925						SNV	EIF2AK2,5_prime_UTR_variant,,ENST00000233057,NM_001135651.2;EIF2AK2,5_prime_UTR_variant,,ENST00000395127,NM_002759.3;EIF2AK2,5_prime_UTR_variant,,ENST00000411537,;EIF2AK2,5_prime_UTR_variant,,ENST00000390013,;EIF2AK2,upstream_gene_variant,,ENST00000405334,NM_001135652.2;EIF2AK2,upstream_gene_variant,,ENST00000496059,;AC007899.3,non_coding_transcript_exon_variant,,ENST00000412776,;	uc010ynh.1	c.-43G>A	280/10042	1	1			c.-43G>A						2	SNP	c.(-45--41)GCGTG>GCATG	3	3			ovary(2)|lung(2)|pancreas(1)	5	Broad	eukaryotic translation initiation factor 2-alpha			37376027		0.433	ENSG00000055332	4912	g.chr2:37376027C>T	evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			368			368	160.155573	KEEP	29	23	-1	18	28	29	23	-1	160.306631	18	28	0.543478	1	0	0	0	0	0	0	0	0	--	--		0	T			EIF2AK2_uc010fab.1_5'Flank|EIF2AK2_uc010yng.1_5'Flank|EIF2AK2_uc010fac.2_Translation_Start_Site|EIF2AK2_uc010fad.2_Translation_Start_Site	183	GBM-26-5134-TP		C	CCAAAATGCACGCAGATAATC	NM_002759	NP_002750	37376027	P19525	E2AK2_HUMAN	0			2	514	-	T	T		all_hematologic(82;0.248)	Translation_Start_Site							
EIF2AK3	0	broad.mit.edu	GRCh37	2	88870441	88870441	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1832-01	TCGA-27-1832-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303236.3:c.2936C>T	p.Ala979Val	p.A979V	ENST00000303236	NM_004836.5	979	gCc/gTc	0			1			A	A/V	uc002stc.3	protein_coding	YES	CCDS33241.1			2936/3351									ovary(3)	3	c.(2935-2937)GCC>GTC			Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF38,PROSITE_profiles:PS50011	eukaryotic translation initiation factor 2-alpha				ENSP00000307235		14/17									COSM3408028,COSM3408027	14/17	.		ENST00000303236	Transcript	1		activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	ENSG00000172071	g.chr2:88870441G>A	3255			MODERATE		0.025	neutral	getma.org/?cm=msa&ty=f&p=E2AK3_HUMAN&rb=863&re=1077&var=A979V	getma.org/pdb.php?prot=E2AK3_HUMAN&from=863&to=1077&var=A979V	getma.org/?cm=var&var=hg19,2,88870441,G,A&fts=all	A979V	--	--	1																																			1,1	1		benign(0.145)	p.A979V	NM_004836	NP_004827		tolerated(0.05)	1,1	E2AK3_HUMAN	EIF2AK3	HGNC	Q9NZJ5	E2AK3_HUMAN			E7ER02_HUMAN		14	3138	-			UPI000013E87D	979			Cytoplasmic (Potential).|Protein kinase.		SNV	EIF2AK3,missense_variant,p.Ala979Val,ENST00000303236,NM_004836.5;EIF2AK3,missense_variant,p.Ala828Val,ENST00000419748,;EIF2AK3,missense_variant,p.Ala858Val,ENST00000415570,;AC104134.2,intron_variant,,ENST00000413234,;EIF2AK3,non_coding_transcript_exon_variant,,ENST00000470706,;EIF2AK3,downstream_gene_variant,,ENST00000478003,;	uc002stc.3	c.2936C>T	3238/4646	1	1			c.2936C>T						2	SNP	c.(2935-2937)GCC>GTC	52	52			ovary(3)	3	Broad	eukaryotic translation initiation factor 2-alpha			88870441		0.488	ENSG00000172071	4913	g.chr2:88870441G>A	activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	GBM(138;671 1851 16235 39058 45249)		242	GBM(138;671 1851 16235 39058 45249)		242	-51.605721	KEEP	1	3	-1	130	106	1	3	-1	6.524823	130	106	0.018018	1	0	0	0	0	1	0	0	0	--	--		0	A				191	GBM-27-1832-TP	p.A979V	G	TGTGTGTCTGGCATAAGCTGG	NM_004836	NP_004827	88870441	Q9NZJ5	E2AK3_HUMAN	0			14	3138	-	A	A			Missense_Mutation	979			Cytoplasmic (Potential).|Protein kinase.			
EIF2AK4	440275		GRCh37	15	40280263	40280263	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000263791.5:c.2483T>C	p.Leu828Pro	p.L828P	ENST00000263791	NM_001013703.2	828	cTt/cCt	0																																																																																																																																																																																																																																												
EIF2S2	8894	broad.mit.edu	GRCh37	20	32677582	32677582	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-2562-01	TCGA-06-2562-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374980.2:c.956A>G	p.Gln319Arg	p.Q319R	ENST00000374980	NM_003908.3	319	cAg/cGg	0			1			C	Q/R	uc002xaf.2	protein_coding	YES	CCDS13231.1			956/1002									large_intestine(1)	1	c.(955-957)CAG>CGG			hmmpanther:PTHR23001	eukaryotic translation initiation factor 2 beta				ENSP00000364119		9-Sep									COSM3405029	9-Sep	.		ENST00000374980	Transcript				cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity	ENSG00000125977	g.chr20:32677582T>C	3266			MODERATE		2.105	medium	getma.org/?cm=msa&ty=f&p=IF2B_HUMAN&rb=281&re=333&var=Q319R	NA	getma.org/?cm=var&var=hg19,20,32677582,T,C&fts=all	Q319R	--	--	1																																		EIF2S2_uc002xag.2_Missense_Mutation_p.Q316R|EIF2S2_uc010ges.2_Missense_Mutation_p.Q259R	1	1		probably_damaging(0.968)	p.Q319R	NM_003908	NP_003899		deleterious(0.02)	1	IF2B_HUMAN	EIF2S2	HGNC	P20042	IF2B_HUMAN			Q96I16_HUMAN,Q6IBR8_HUMAN		9	1125	-			UPI000012D28F	319					SNV	EIF2S2,missense_variant,p.Gln319Arg,ENST00000374980,NM_003908.3;RALY,intron_variant,,ENST00000489384,;	uc002xaf.2	c.956A>G	1178/2656	3	3			c.956A>G						20	SNP	c.(955-957)CAG>CGG	4	4			large_intestine(1)	1	Broad	eukaryotic translation initiation factor 2 beta			32677582		0.483	ENSG00000125977	4925	g.chr20:32677582T>C		cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity							-58.801116	KEEP	1	2	-1	136	134	1	2	-1	6.43093	136	134	0.0125	1	0	0	0	0	1	0	0	0	--	--		0	C			EIF2S2_uc002xag.2_Missense_Mutation_p.Q316R|EIF2S2_uc010ges.2_Missense_Mutation_p.Q259R	85	GBM-06-2562-TP	p.Q319R	T	CGTGACAGCCTGGAAGCCGGT	NM_003908	NP_003899	32677582	P20042	IF2B_HUMAN	0			9	1125	-	C	C			Missense_Mutation	319						
EIF2S3	1968	broad.mit.edu	GRCh37	X	24094874	24094877	+	frameshift_variant	Frame_Shift_Del	DEL	CAAT	CAAT	-			TCGA-06-0169-01	TCGA-06-0169-01	CAAT	CAAT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000253039.4:c.1394_1397del	p.Ile465SerfsTer4	p.I465Sfs*4	ENST00000253039	NM_001415.3	464	aCAATc/ac	0			1			-	TI/X	uc004dbc.2	protein_coding	YES	CCDS14210.1			1391-1394/1419									lung(1)	1	c.(1390-1395)ACAATCfs			hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF94	eukaryotic translation initiation factor 2,				ENSP00000253039		12-Dec										12-Dec	.		ENST00000253039	Transcript				cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	ENSG00000130741	g.chrX:24094874_24094877delCAAT	3267	3		HIGH								--	--	1																																				1			p.T464fs	NM_001415	NP_001406				IF2G_HUMAN	EIF2S3	HGNC	P41091	IF2G_HUMAN					12	1412_1415	+			UPI0000163BD6	464_465					deletion	EIF2S3,frameshift_variant,p.Ile465SerfsTer4,ENST00000253039,NM_001415.3;EIF2S3,intron_variant,,ENST00000457332,;EIF2S3,downstream_gene_variant,,ENST00000460032,;	uc004dbc.2	c.1391_1394delCAAT	1644-1647/2858	5	5			c.1391_1394delCAAT						23	DEL	c.(1390-1395)ACAATCfs	34	34			lung(1)	1	Broad	eukaryotic translation initiation factor 2,			24094877		0.348	ENSG00000130741	4926	g.chrX:24094874_24094877delCAAT		cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity																				0.47	1	1	0	1	0	0	0	0	0	--	--		0	-				34	GBM-06-0169-TP	p.T464fs	CAAT	AGAGGAGTGACAATCAAGCCAACA	NM_001415	NP_001406	24094874	P41091	IF2G_HUMAN	0			12	1412_1415	+	-	-			Frame_Shift_Del	464_465						
EIF2S3	1968	broad.mit.edu	GRCh37	X	24073154	24073154	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A			TCGA-06-5410-01	TCGA-06-5410-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000253039.4:c.69G>A		p.X23_splice	ENST00000253039	NM_001415.3	23	ttG/ttA	0			1			A	L	uc004dbc.2	protein_coding	YES	CCDS14210.1			69/1419									lung(1)	1	c.(67-69)TTG>TTA			hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF94	eukaryotic translation initiation factor 2,				ENSP00000253039		12-Jan									COSM3406240	12-Jan	.		ENST00000253039	Transcript				cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	ENSG00000130741	g.chrX:24073154G>A	3267			LOW								--	--	1																																OREG0019714	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1	1			p.L23L	NM_001415	NP_001406			1	IF2G_HUMAN	EIF2S3	HGNC	P41091	IF2G_HUMAN					1	90	+			UPI0000163BD6	23					SNV	EIF2S3,splice_region_variant,p.=,ENST00000253039,NM_001415.3;EIF2S3,splice_region_variant,p.=,ENST00000423068,;EIF2S3,splice_region_variant,,ENST00000487075,;	uc004dbc.2	c.69G>A	322/2858	1	1			c.69G>A						23	SNP	c.(67-69)TTG>TTA	64	64			lung(1)	1	Broad	eukaryotic translation initiation factor 2,			24073154		0.587	ENSG00000130741	4926	g.chrX:24073154G>A		cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity							5.459732	KEEP	7	3	-1	43	68	7	3	-1	24.80297	43	68	0.088496	1	0	0	0	0	0	0	1	0	--	--		0	A	OREG0019714	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		93	GBM-06-5410-TP	p.L23L	G	TCACCACCTTGGTGAGGTTTT	NM_001415	NP_001406	24073154	P41091	IF2G_HUMAN	0			1	90	+	A	A			Silent	23						
EIF3A	8661	broad.mit.edu	GRCh37	10	120801816	120801816	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-06-0877-01	TCGA-06-0877-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369144.3:c.3216G>C	p.Gly1072=	p.G1072=	ENST00000369144	NM_003750.2	1072	ggG/ggC	0			1			G	G	uc001ldu.2	protein_coding	YES	CCDS7608.1			3216/4149										0	c.(3214-3216)GGG>GGC			Low_complexity_(Seg):seg,hmmpanther:PTHR14005:SF0,hmmpanther:PTHR14005	eukaryotic translation initiation factor 3,				ENSP00000358140		19/22									COSM3396944	19/22	.		ENST00000369144	Transcript			formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	ENSG00000107581	g.chr10:120801816C>G	3271			LOW								--	--	1																																		EIF3A_uc010qsu.1_Silent_p.G1038G|EIF3A_uc009xzg.1_Silent_p.G111G	1	1			p.G1072G	NM_003750	NP_003741			1	EIF3A_HUMAN	EIF3A	HGNC	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	F5H335_HUMAN		19	3362	-		Lung NSC(174;0.094)|all_lung(145;0.123)	UPI000012D311	1072			15.|Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].		SNV	EIF3A,synonymous_variant,p.=,ENST00000369144,NM_003750.2;EIF3A,synonymous_variant,p.=,ENST00000541549,;	uc001ldu.2	c.3216G>C	3344/5472	3	3			c.3216G>C						10	SNP	c.(3214-3216)GGG>GGC	16	16				0	Broad	eukaryotic translation initiation factor 3,			120801816		0.637	ENSG00000107581	4927	g.chr10:120801816C>G	formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			1050			1050	-51.363668	KEEP	3	3	-1	124	129	3	3	-1	6.708811	124	129	0.025862	1	0	0	0	0	0	0	1	0	--	--		0	G			EIF3A_uc010qsu.1_Silent_p.G1038G|EIF3A_uc009xzg.1_Silent_p.G111G	73	GBM-06-0877-TP	p.G1072G	C	CATCATCCAACCCTCGCCTGG	NM_003750	NP_003741	120801816	Q14152	EIF3A_HUMAN	0		all cancers(201;0.0236)	19	3362	-	G	G		Lung NSC(174;0.094)|all_lung(145;0.123)	Silent	1072			15.|Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].			
EIF3B	8662		GRCh37	7	2412424	2412424	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000360876.4:c.1804C>G	p.Leu602Val	p.L602V	ENST00000360876	NM_001037283.1	602	Ctc/Gtc	0																																																																																																																																																																																																																																												
EIF3E	0	broad.mit.edu	GRCh37	8	109240547	109240547	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6285-01	TCGA-76-6285-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000220849.5:c.671A>G	p.Asn224Ser	p.N224S	ENST00000220849	NM_001568.2	224	aAt/aGt	0			1			C	N/S	uc003ymu.2	protein_coding	YES	CCDS6308.1			671/1338									ovary(2)|kidney(1)	3	c.(670-672)AAT>AGT			HAMAP:MF_03004,PIRSF_domain:PIRSF016255,hmmpanther:PTHR10317	eukaryotic translation initiation factor 3,				ENSP00000220849		13-Jul									COSM3412674	13-Jul	.		ENST00000220849	Transcript			negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding	ENSG00000104408	g.chr8:109240547T>C	3277			MODERATE		2.43	medium	getma.org/?cm=msa&ty=f&p=EIF3E_HUMAN&rb=139&re=289&var=N224S	NA	getma.org/?cm=var&var=hg19,8,109240547,T,C&fts=all	N224S	--	--	1																																		EIF3E_uc003ymt.2_Missense_Mutation_p.N175S|EIF3E_uc003ymv.2_Missense_Mutation_p.N131S|EIF3E_uc010mci.1_Missense_Mutation_p.N224S	1	1		benign(0.343)	p.N224S	NM_001568	NP_001559		deleterious(0)	1	EIF3E_HUMAN	EIF3E	HGNC	P60228	EIF3E_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)		E5RIT4_HUMAN,E5RGA2_HUMAN,B3KW56_HUMAN		7	699	-			UPI0000000C92	224					SNV	EIF3E,missense_variant,p.Asn224Ser,ENST00000220849,NM_001568.2;EIF3E,missense_variant,p.Asn131Ser,ENST00000519030,;EIF3E,missense_variant,p.Asn97Ser,ENST00000519627,;EIF3E,missense_variant,p.Asn48Ser,ENST00000522352,;RP11-35G22.1,downstream_gene_variant,,ENST00000520037,;EIF3E,non_coding_transcript_exon_variant,,ENST00000519517,;EIF3E,upstream_gene_variant,,ENST00000519413,;EIF3E,3_prime_UTR_variant,,ENST00000522445,;EIF3E,non_coding_transcript_exon_variant,,ENST00000521614,;EIF3E,non_coding_transcript_exon_variant,,ENST00000523646,;	uc003ymu.2	c.671A>G	734/1543	3	3			c.671A>G						8	SNP	c.(670-672)AAT>AGT	5	5			ovary(2)|kidney(1)	3	Broad	eukaryotic translation initiation factor 3,			109240547		0.343	ENSG00000104408	4930	g.chr8:109240547T>C	negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding	GBM(15;360 410 8460 34179 52246)			GBM(15;360 410 8460 34179 52246)			180.508157	KEEP	36	29	-1	41	39	36	29	-1	180.876371	41	39	0.439655	1	0	0	0	0	1	0	0	0	--	--		0	C			EIF3E_uc003ymt.2_Missense_Mutation_p.N175S|EIF3E_uc003ymv.2_Missense_Mutation_p.N131S|EIF3E_uc010mci.1_Missense_Mutation_p.N224S	280	GBM-76-6285-TP	p.N224S	T	TTTGGGGTGATTGAAGAAAAC	NM_001568	NP_001559	109240547	P60228	EIF3E_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)		7	699	-	C	C			Missense_Mutation	224						
EIF3H	0	broad.mit.edu	GRCh37	8	117738327	117738327	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521861.1:c.217G>A	p.Glu73Lys	p.E73K	ENST00000521861	NM_003756.2	73	Gaa/Aaa	0			1			T	E/K	uc003yoa.2	protein_coding	YES	CCDS6319.1			217/1059									lung(3)	3	c.(217-219)GAA>AAA			Low_complexity_(Seg):seg,HAMAP:MF_03007,hmmpanther:PTHR10410,hmmpanther:PTHR10410:SF3,Pfam_domain:PF01398,SMART_domains:SM00232	eukaryotic translation initiation factor 3,				ENSP00000429931		8-Feb									COSM2157469	8-Feb	.		ENST00000521861	Transcript			regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	ENSG00000147677	g.chr8:117738327C>T	3273			MODERATE		0.615	neutral	getma.org/?cm=msa&ty=f&p=EIF3H_HUMAN&rb=34&re=146&var=E73K	getma.org/pdb.php?prot=EIF3H_HUMAN&from=34&to=146&var=E73K	getma.org/?cm=var&var=hg19,8,117738327,C,T&fts=all	E73K	--	--	1																																		EIF3H_uc003yob.2_Missense_Mutation_p.E87K|EIF3H_uc011lhz.1_Missense_Mutation_p.E73K	1	1		benign(0.257)	p.E73K	NM_003756	NP_003747		tolerated(0.09)	1	EIF3H_HUMAN	EIF3H	HGNC	O15372	EIF3H_HUMAN			Q6IB98_HUMAN		2	243	-	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)		UPI00000477E8	73	E -> K (in Ref. 2; AAC84044).		MPN.		SNV	EIF3H,missense_variant,p.Glu73Lys,ENST00000521861,NM_003756.2;EIF3H,missense_variant,p.Glu87Lys,ENST00000276682,;EIF3H,missense_variant,p.Glu89Lys,ENST00000518995,;EIF3H,missense_variant,p.Glu87Lys,ENST00000520813,;EIF3H,missense_variant,p.Glu73Lys,ENST00000522453,;EIF3H,intron_variant,,ENST00000518949,;EIF3H,3_prime_UTR_variant,,ENST00000522800,;EIF3H,3_prime_UTR_variant,,ENST00000519046,;EIF3H,non_coding_transcript_exon_variant,,ENST00000518034,;EIF3H,intron_variant,,ENST00000517974,;	uc003yoa.2	c.217G>A	241/3959	1	1			c.217G>A						8	SNP	c.(217-219)GAA>AAA	4	4			lung(3)	3	Broad	eukaryotic translation initiation factor 3,			117738327		0.403	ENSG00000147677	4933	g.chr8:117738327C>T	regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			241			241	147.201136	KEEP	18	34	-1	36	44	18	34	-1	148.113458	36	44	0.405172	1	0	0	0	0	1	0	0	0	--	--		0	T			EIF3H_uc003yob.2_Missense_Mutation_p.E87K|EIF3H_uc011lhz.1_Missense_Mutation_p.E73K	265	GBM-76-4925-TP	p.E73K	C	AGCCGATCTTCTACAACCAGA	NM_003756	NP_003747	117738327	O15372	EIF3H_HUMAN	0			2	243	-	T	T	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)		Missense_Mutation	73	E -> K (in Ref. 2; AAC84044).		MPN.			
EIF3J	8669	broad.mit.edu	GRCh37	15	44829531	44829532	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0747-01	TCGA-06-0747-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261868.5:c.56dup	p.Ser20LeufsTer32	p.S20Lfs*32	ENST00000261868	NM_003758.2	18	gct/gcTt	0			1			T	A/AX	uc001ztv.2	protein_coding	YES	CCDS10111.1			53-54/777										0	c.(52-54)GCTfs			Low_complexity_(Seg):seg,HAMAP:MF_03009,hmmpanther:PTHR21681,Pfam_domain:PF08597	eukaryotic translation initiation factor 3,				ENSP00000261868		8-Feb										8-Feb	.		ENST00000261868	Transcript				cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	ENSG00000104131	g.chr15:44829531_44829532insT	3270	3		HIGH								--	--	1																																		uc001ztu.2_5'Flank|EIF3J_uc010ueg.1_Frame_Shift_Ins_p.A18fs|EIF3J_uc001ztw.2_Frame_Shift_Ins_p.A18fs		1			p.A18fs	NM_003758	NP_003749				EIF3J_HUMAN	EIF3J	HGNC	O75822	EIF3J_HUMAN		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)			2	180_181	+		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)	UPI000012D2F9	18			Sufficient for interaction with EIF3B.		insertion	EIF3J,frameshift_variant,p.Ser20LeufsTer32,ENST00000261868,NM_003758.2;EIF3J,frameshift_variant,p.Ser20LeufsTer38,ENST00000424492,NM_001284336.1;EIF3J,frameshift_variant,p.Ser20LeufsTer32,ENST00000535391,NM_001284335.1;EIF3J-AS1,upstream_gene_variant,,ENST00000313807,;EIF3J-AS1,upstream_gene_variant,,ENST00000560750,;EIF3J-AS1,upstream_gene_variant,,ENST00000560049,;EIF3J-AS1,upstream_gene_variant,,ENST00000558323,;EIF3J-AS1,upstream_gene_variant,,ENST00000559356,;	uc001ztv.2	c.53_54insT	191-192/2569	5	5			c.53_54insT						15	INS	c.(52-54)GCTfs	7	7				0	Broad	eukaryotic translation initiation factor 3,			44829532		0.594	ENSG00000104131	4935	g.chr15:44829531_44829532insT		cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity																				0.33	1	0	0	1	1	0	0	0	0	--	--		0	T			uc001ztu.2_5'Flank|EIF3J_uc010ueg.1_Frame_Shift_Ins_p.A18fs|EIF3J_uc001ztw.2_Frame_Shift_Ins_p.A18fs	68	GBM-06-0747-TP	p.A18fs	-	GACGCCGACGCTTTCTCCGTGG	NM_003758	NP_003749	44829531	O75822	EIF3J_HUMAN	0		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)	2	180_181	+	T	T		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)	Frame_Shift_Ins	18			Sufficient for interaction with EIF3B.			
EIF3L	51386	broad.mit.edu	GRCh37	22	38274115	38274115	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0184-01	TCGA-06-0184-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000412331.2:c.1512C>T	p.Ser504=	p.S504=	ENST00000412331	NM_016091.3	504	agC/agT	0			1			T	S	uc003auf.2	protein_coding	YES	CCDS13960.1			1512/1695									ovary(1)	1	c.(1510-1512)AGC>AGT			HAMAP:MF_03011,hmmpanther:PTHR13242,Pfam_domain:PF10255	eukaryotic translation initiation factor 3				ENSP00000416892		13-Nov	7.44E-05		8.67E-05			9.37E-05		0.000123	rs747503779,COSM2150482,COSM2150483	13-Nov	.		ENST00000412331	Transcript				eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	ENSG00000100129	g.chr22:38274115C>T	18138			LOW								--	--	1																																		EIF3L_uc003aue.1_Silent_p.S504S|EIF3L_uc011ann.1_Silent_p.S456S|EIF3L_uc003aug.2_Silent_p.S396S|EIF3L_uc003auh.2_Silent_p.S237S	0,1,1	1			p.S504S	NM_016091	NP_057175			0,1,1	EIF3L_HUMAN	EIF3L	HGNC	Q9Y262	EIF3L_HUMAN			Q7Z5X3_HUMAN,C9JHP4_HUMAN,B3KNG0_HUMAN,B0QY89_HUMAN		11	1599	+			UPI00000012D7	504					SNV	EIF3L,synonymous_variant,p.=,ENST00000412331,NM_016091.3;EIF3L,synonymous_variant,p.=,ENST00000406934,;EIF3L,synonymous_variant,p.=,ENST00000381683,NM_001242923.1;EIF3L,synonymous_variant,p.=,ENST00000450376,;EIF3L,non_coding_transcript_exon_variant,,ENST00000477256,;EIF3L,non_coding_transcript_exon_variant,,ENST00000482600,;	uc003auf.2	c.1512C>T	2094/3220	2	2			c.1512C>T						22	SNP	c.(1510-1512)AGC>AGT	47	47			ovary(1)	1	Broad	eukaryotic translation initiation factor 3			38274115		0.517	ENSG00000100129	4937	g.chr22:38274115C>T		eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity							160.040875	KEEP	47	26	-1	89	107	47	26	-1	172.062149	89	107	0.262712	1	0	0	0	0	0	0	1	0	--	--		0	T			EIF3L_uc003aue.1_Silent_p.S504S|EIF3L_uc011ann.1_Silent_p.S456S|EIF3L_uc003aug.2_Silent_p.S396S|EIF3L_uc003auh.2_Silent_p.S237S	39	GBM-06-0184-TP	p.S504S	C	TGTGGACCAGCGGTATCTCAG	NM_016091	NP_057175	38274115	Q9Y262	EIF3L_HUMAN	0			11	1599	+	T	T			Silent	504						
EIF3M	0	broad.mit.edu	GRCh37	11	32615446	32615446	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-2571-01	TCGA-41-2571-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000531120.1:c.568G>A	p.Gly190Arg	p.G190R	ENST00000531120	NM_006360.4	190	Gga/Aga	0			1			A	G/R	uc001mtu.2	protein_coding	YES	CCDS7880.1			568/1125									ovary(1)|breast(1)|skin(1)	3	c.(568-570)GGA>AGA			HAMAP:MF_03012,hmmpanther:PTHR15350,Superfamily_domains:SSF48371	eukaryotic translation initiation factor 3,				ENSP00000436049		11-Jun									COSM1177555	11-Jun	.		ENST00000531120	Transcript				eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	ENSG00000149100	g.chr11:32615446G>A	24460			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=EIF3M_HUMAN&rb=1&re=200&var=G190R	NA	getma.org/?cm=var&var=hg19,11,32615446,G,A&fts=all	G190R	--	--	1																																		EIF3M_uc010ref.1_Missense_Mutation_p.G58R	1	1		benign(0.236)	p.G190R	NM_006360	NP_006351		tolerated(0.13)	1	EIF3M_HUMAN	EIF3M	HGNC	Q7L2H7	EIF3M_HUMAN			J3KNJ2_HUMAN,E9PN86_HUMAN		6	611	+	Breast(20;0.109)		UPI0000070F8A	190					SNV	EIF3M,missense_variant,p.Gly190Arg,ENST00000531120,NM_006360.4;EIF3M,missense_variant,p.Gly58Arg,ENST00000524896,;EIF3M,missense_variant,p.Gly127Arg,ENST00000323213,;EIF3M,missense_variant,p.Gly31Arg,ENST00000526267,;EIF3M,downstream_gene_variant,,ENST00000533439,;EIF3M,missense_variant,p.Gly58Arg,ENST00000525782,;EIF3M,3_prime_UTR_variant,,ENST00000531921,;EIF3M,3_prime_UTR_variant,,ENST00000524711,;EIF3M,3_prime_UTR_variant,,ENST00000532444,;EIF3M,non_coding_transcript_exon_variant,,ENST00000530026,;EIF3M,non_coding_transcript_exon_variant,,ENST00000525054,;EIF3M,downstream_gene_variant,,ENST00000531186,;HNRNPA3P9,upstream_gene_variant,,ENST00000604913,;	uc001mtu.2	c.568G>A	631/5051	1	1			c.568G>A						11	SNP	c.(568-570)GGA>AGA	64	64			ovary(1)|breast(1)|skin(1)	3	Broad	eukaryotic translation initiation factor 3,			32615446		0.378	ENSG00000149100	4938	g.chr11:32615446G>A		eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity							152.132718	KEEP	30	30	-1	43	42	30	30	-1	152.911919	43	42	0.410714	1	0	0	0	0	1	0	0	0	--	--		0	A			EIF3M_uc010ref.1_Missense_Mutation_p.G58R	250	GBM-41-2571-TP	p.G190R	G	GGAATTGCTCGGAAGTTACAC	NM_006360	NP_006351	32615446	Q7L2H7	EIF3M_HUMAN	0			6	611	+	A	A	Breast(20;0.109)		Missense_Mutation	190						
EIF4A1	0	broad.mit.edu	GRCh37	17	7480924	7480924	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-4928-01	TCGA-76-4928-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000293831.8:c.806C>A	p.Thr269Asn	p.T269N	ENST00000293831	NM_001416.3	269	aCc/aAc	0			1			A	T/N	uc002gho.1	protein_coding	YES	CCDS11113.1			806/1221									ovary(1)	1	c.(805-807)ACC>AAC			Gene3D:3.40.50.300,PROSITE_profiles:PS51194,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF221,Superfamily_domains:SSF52540	eukaryotic translation initiation factor 4A				ENSP00000293831		11-Aug									COSM3748030	11-Aug	.		ENST00000293831	Transcript			nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity	ENSG00000161960	g.chr17:7480924C>A	3282			MODERATE		0.205	neutral	getma.org/?cm=msa&ty=f&p=IF4A1_HUMAN&rb=245&re=406&var=T269N	getma.org/pdb.php?prot=IF4A1_HUMAN&from=245&to=406&var=T269N	getma.org/?cm=var&var=hg19,17,7480924,C,A&fts=all	T269N	--	--	1																																		EIF4A1_uc002ghr.1_Missense_Mutation_p.T269N|EIF4A1_uc002ghq.1_Missense_Mutation_p.T269N|EIF4A1_uc002ghp.1_Missense_Mutation_p.T269N|SNORA67_uc010cml.1_5'Flank|CD68_uc002ghv.2_5'Flank|CD68_uc002ghu.2_5'Flank	1	1		probably_damaging(0.997)	p.T269N	NM_001416	NP_001407		deleterious(0.05)	1	IF4A1_HUMAN	EIF4A1	HGNC	P60842	IF4A1_HUMAN			J3QLN6_HUMAN,J3QKZ9_HUMAN,J3KTN0_HUMAN,J3KTB5_HUMAN,J3KS93_HUMAN,B4DNH2_HUMAN		16	2131	+			UPI000000411B	269			Helicase C-terminal.		SNV	EIF4A1,missense_variant,p.Thr269Asn,ENST00000293831,NM_001416.3;EIF4A1,missense_variant,p.Thr269Asn,ENST00000582746,;EIF4A1,missense_variant,p.Thr269Asn,ENST00000577269,NM_001204510.1;EIF4A1,missense_variant,p.Thr253Asn,ENST00000584860,;EIF4A1,missense_variant,p.Thr152Asn,ENST00000583389,;EIF4A1,missense_variant,p.Thr267Asn,ENST00000578495,;EIF4A1,missense_variant,p.Thr239Asn,ENST00000584784,;EIF4A1,missense_variant,p.Thr92Asn,ENST00000578754,;CD68,upstream_gene_variant,,ENST00000250092,NM_001251.2;CD68,upstream_gene_variant,,ENST00000380498,NM_001040059.1;EIF4A1,downstream_gene_variant,,ENST00000380512,;CD68,upstream_gene_variant,,ENST00000584180,;EIF4A1,downstream_gene_variant,,ENST00000577929,;EIF4A1,downstream_gene_variant,,ENST00000581384,;CD68,upstream_gene_variant,,ENST00000584502,;EIF4A1,downstream_gene_variant,,ENST00000585024,;EIF4A1,downstream_gene_variant,,ENST00000583802,;EIF4A1,downstream_gene_variant,,ENST00000582169,;EIF4A1,downstream_gene_variant,,ENST00000581770,;SNORD10,downstream_gene_variant,,ENST00000459579,NR_002604.2;SNORA67,upstream_gene_variant,,ENST00000384423,NR_002912.1;SNORA48,downstream_gene_variant,,ENST00000386847,NR_002918.1;AC113189.5,downstream_gene_variant,,ENST00000573187,;AC113189.5,downstream_gene_variant,,ENST00000415124,;AC113189.5,downstream_gene_variant,,ENST00000417897,;AC113189.5,downstream_gene_variant,,ENST00000572046,;SNORA67,non_coding_transcript_exon_variant,,ENST00000581621,;SENP3-EIF4A1,non_coding_transcript_exon_variant,,ENST00000579777,;EIF4A1,upstream_gene_variant,,ENST00000581808,;EIF4A1,3_prime_UTR_variant,,ENST00000581544,;EIF4A1,non_coding_transcript_exon_variant,,ENST00000578324,;EIF4A1,non_coding_transcript_exon_variant,,ENST00000396527,;EIF4A1,non_coding_transcript_exon_variant,,ENST00000581841,;EIF4A1,non_coding_transcript_exon_variant,,ENST00000583217,;EIF4A1,non_coding_transcript_exon_variant,,ENST00000578569,;EIF4A1,downstream_gene_variant,,ENST00000584798,;EIF4A1,downstream_gene_variant,,ENST00000584901,;EIF4A1,downstream_gene_variant,,ENST00000580461,;EIF4A1,downstream_gene_variant,,ENST00000584712,;EIF4A1,downstream_gene_variant,,ENST00000584054,;EIF4A1,downstream_gene_variant,,ENST00000580888,;EIF4A1,downstream_gene_variant,,ENST00000583899,;EIF4A1,downstream_gene_variant,,ENST00000582848,;EIF4A1,upstream_gene_variant,,ENST00000582050,;EIF4A1,downstream_gene_variant,,ENST00000577731,;EIF4A1,downstream_gene_variant,,ENST00000578476,;EIF4A1,downstream_gene_variant,,ENST00000579085,;EIF4A1,downstream_gene_variant,,ENST00000579139,;EIF4A1,downstream_gene_variant,,ENST00000580886,;EIF4A1,downstream_gene_variant,,ENST00000582213,;EIF4A1,downstream_gene_variant,,ENST00000577738,;	uc002gho.1	c.806C>A	822/1756	1	1			c.806C>A						17	SNP	c.(805-807)ACC>AAC	54	54			ovary(1)	1	Broad	eukaryotic translation initiation factor 4A			7480924		0.537	ENSG00000161960	4939	g.chr17:7480924C>A	nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity	Melanoma(120;278 1668 15796 27423 46368)		115	Melanoma(120;278 1668 15796 27423 46368)		115	73.674155	KEEP	20	18	0.473684211	89	82	20	18	0.473684211	90.771059	89	82	0.187166	1	0	0	0	0	1	0	0	0	--	--		0	A			EIF4A1_uc002ghr.1_Missense_Mutation_p.T269N|EIF4A1_uc002ghq.1_Missense_Mutation_p.T269N|EIF4A1_uc002ghp.1_Missense_Mutation_p.T269N|SNORA67_uc010cml.1_5'Flank|CD68_uc002ghv.2_5'Flank|CD68_uc002ghu.2_5'Flank	268	GBM-76-4928-TP	p.T269N	C	TTGTATGAAACCCTGACCATC	NM_001416	NP_001407	7480924	P60842	IF4A1_HUMAN	0			16	2131	+	A	A			Missense_Mutation	269			Helicase C-terminal.			
EIF4B	1975	broad.mit.edu	GRCh37	12	53421578	53421578	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01	TCGA-06-0195-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262056.9:c.680G>A	p.Arg227His	p.R227H	ENST00000262056	NM_001417.4	227	cGt/cAt	0			1			A	R/H	uc001sbh.3	protein_coding	YES	CCDS41788.1			680/1836									breast(1)|kidney(1)	2	c.(679-681)CGT>CAT			Low_complexity_(Seg):seg,hmmpanther:PTHR23236,hmmpanther:PTHR23236:SF8	eukaryotic translation initiation factor 4B				ENSP00000262056		15-Jul	1.65E-05							0.000122	rs763817075,COSM3398838	15-Jul	.		ENST00000262056	Transcript			insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	ENSG00000063046	g.chr12:53421578G>A	3285			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=IF4B_HUMAN&rb=168&re=248&var=R227H	NA	getma.org/?cm=var&var=hg19,12,53421578,G,A&fts=all	R227H	--	--	1																																		EIF4B_uc009zmp.1_RNA|EIF4B_uc010snu.1_Missense_Mutation_p.R227H|EIF4B_uc010snv.1_Missense_Mutation_p.R188H|EIF4B_uc001sbi.2_5'UTR	0,1	1		possibly_damaging(0.522)	p.R227H	NM_001417	NP_001408		tolerated(0.07)	0,1	IF4B_HUMAN	EIF4B	HGNC	P23588	IF4B_HUMAN					7	886	+			UPI000006F988	227			Arg-rich.|Asp-rich.		SNV	EIF4B,missense_variant,p.Arg227His,ENST00000262056,NM_001417.4;EIF4B,missense_variant,p.Arg188His,ENST00000416762,;EIF4B,missense_variant,p.Arg227His,ENST00000420463,;EIF4B,missense_variant,p.Arg182His,ENST00000549481,;EIF4B,intron_variant,,ENST00000552490,;RP11-983P16.4,intron_variant,,ENST00000552905,;EIF4B,3_prime_UTR_variant,,ENST00000550704,;EIF4B,3_prime_UTR_variant,,ENST00000549077,;EIF4B,3_prime_UTR_variant,,ENST00000550390,;	uc001sbh.3	c.680G>A	1006/4148	1	1			c.680G>A						12	SNP	c.(679-681)CGT>CAT	52	52			breast(1)|kidney(1)	2	Broad	eukaryotic translation initiation factor 4B			53421578		0.373	ENSG00000063046	4942	g.chr12:53421578G>A	insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			304			304	179.833715	KEEP	26	47	-1	87	82	26	47	-1	187.62428	87	82	0.301802	1	0	0	0	0	1	0	0	0	--	--		0	A			EIF4B_uc009zmp.1_RNA|EIF4B_uc010snu.1_Missense_Mutation_p.R227H|EIF4B_uc010snv.1_Missense_Mutation_p.R188H|EIF4B_uc001sbi.2_5'UTR	45	GBM-06-0195-TP	p.R227H	G	TATCGAGATCGTTATGATTCA	NM_001417	NP_001408	53421578	P23588	IF4B_HUMAN	0			7	886	+	A	A			Missense_Mutation	227			Arg-rich.|Asp-rich.			
EIF4E1B	0	broad.mit.edu	GRCh37	5	176070180	176070180	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-12-5299-01	TCGA-12-5299-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318682.6:c.113C>G	p.Ser38Cys	p.S38C	ENST00000318682	NM_001099408.1	38	tCt/tGt	0			1			G	S/C	uc010jkf.1	protein_coding	YES	CCDS47345.1			113/729										0	c.(112-114)TCT>TGT			hmmpanther:PTHR11960,hmmpanther:PTHR11960:SF3	eukaryotic translation initiation factor 4E				ENSP00000323714		9-Apr									COSM3410157	9-Apr	.		ENST00000318682	Transcript			regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity	ENSG00000175766	g.chr5:176070180C>G	33179			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=I4E1B_HUMAN&rb=1&re=62&var=S38C	NA	getma.org/?cm=var&var=hg19,5,176070180,C,G&fts=all	S38C	--	--	1																																			1	1		possibly_damaging(0.533)	p.S38C	NM_001099408	NP_001092878		tolerated_low_confidence(0.12)	1	I4E1B_HUMAN	EIF4E1B	HGNC	A6NMX2	I4E1B_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		D6RHE2_HUMAN		4	697	+	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	UPI0001572CC7	38					SNV	EIF4E1B,missense_variant,p.Ser38Cys,ENST00000318682,NM_001099408.1;EIF4E1B,missense_variant,p.Ser38Cys,ENST00000504597,;EIF4E1B,missense_variant,p.Ser38Cys,ENST00000510660,;TSPAN17,upstream_gene_variant,,ENST00000298564,;TSPAN17,upstream_gene_variant,,ENST00000405525,NM_001006616.2;TSPAN17,upstream_gene_variant,,ENST00000310032,NM_012171.2,NM_130465.4;TSPAN17,upstream_gene_variant,,ENST00000508164,;TSPAN17,upstream_gene_variant,,ENST00000515708,;TSPAN17,upstream_gene_variant,,ENST00000503045,;TSPAN17,upstream_gene_variant,,ENST00000504168,;TSPAN17,upstream_gene_variant,,ENST00000507471,;EIF4E1B,upstream_gene_variant,,ENST00000505497,;EIF4E1B,upstream_gene_variant,,ENST00000512734,;EIF4E1B,downstream_gene_variant,,ENST00000510473,;EIF4E1B,non_coding_transcript_exon_variant,,ENST00000515458,;EIF4E1B,non_coding_transcript_exon_variant,,ENST00000503895,;TSPAN17,upstream_gene_variant,,ENST00000514705,;TSPAN17,upstream_gene_variant,,ENST00000503030,;	uc010jkf.1	c.113C>G	697/1974	3	3			c.113C>G						5	SNP	c.(112-114)TCT>TGT	3	3				0	Broad	eukaryotic translation initiation factor 4E			176070180		0.453	ENSG00000175766	4944	g.chr5:176070180C>G	regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity							118.889847	KEEP	19	20	-1	38	43	19	20	-1	121.472989	38	43	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	G				130	GBM-12-5299-TP	p.S38C	C	TCTCCAAACTCTCCCAGGACT	NM_001099408	NP_001092878	176070180	A6NMX2	I4E1B_HUMAN	0	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	697	+	G	G	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Missense_Mutation	38						
EIF4G1	1981	broad.mit.edu	GRCh37	3	184052651	184052651	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-5417-01	TCGA-06-5417-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000424196.1:c.4776C>G	p.Phe1592Leu	p.F1592L	ENST00000424196		1592	ttC/ttG	0			1			G	F/L	uc003fnp.2	protein_coding		CCDS3259.1			4755/4800									lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	c.(4753-4755)TTC>TTG			Pfam_domain:PF02020,PROSITE_profiles:PS51363,hmmpanther:PTHR23253,hmmpanther:PTHR23253:SF10,SMART_domains:SM00515	eukaryotic translation initiation factor 4				ENSP00000316879		33/33									COSM2153271	33/33	.		ENST00000346169	Transcript	1		insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	ENSG00000114867	g.chr3:184052651C>G	3296			MODERATE		2.65	medium	getma.org/?cm=msa&ty=f&p=IF4G1_HUMAN&rb=1518&re=1599&var=F1585L	getma.org/pdb.php?prot=IF4G1_HUMAN&from=1518&to=1599&var=F1585L	getma.org/?cm=var&var=hg19,3,184052651,C,G&fts=all	F1585L	--	--	1																																		EIF4G1_uc003fnt.2_Missense_Mutation_p.F1296L|EIF4G1_uc003fnq.2_Missense_Mutation_p.F1498L|EIF4G1_uc003fnr.2_Missense_Mutation_p.F1421L|EIF4G1_uc010hxx.2_Missense_Mutation_p.F1592L|EIF4G1_uc003fns.2_Missense_Mutation_p.F1545L|EIF4G1_uc010hxy.2_Missense_Mutation_p.F1592L|EIF4G1_uc003fnv.3_Missense_Mutation_p.F1586L|EIF4G1_uc003fnu.3_Missense_Mutation_p.F1585L|EIF4G1_uc003fnw.2_Missense_Mutation_p.F1592L|EIF4G1_uc003fny.3_Missense_Mutation_p.F1389L|EIF4G1_uc003foa.2_Missense_Mutation_p.F257L|FAM131A_uc003fob.1_5'Flank|FAM131A_uc003foc.2_5'Flank|FAM131A_uc003fod.1_5'Flank	1			probably_damaging(0.994)	p.F1585L	NM_198241	NP_937884		deleterious(0)	1	IF4G1_HUMAN	EIF4G1	HGNC	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Q96I65_HUMAN,C9JWW9_HUMAN,C9JWH7_HUMAN,C9JSU8_HUMAN,C9JIH5_HUMAN,C9J987_HUMAN,C9J6B6_HUMAN,C9J556_HUMAN		33	4953	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		UPI00003671E5	1585			W2.|Necessary but not sufficient for MKNK1- binding.|EIF4A-binding.		SNV	EIF4G1,missense_variant,p.Phe1586Leu,ENST00000342981,NM_182917.4;EIF4G1,missense_variant,p.Phe1592Leu,ENST00000424196,;EIF4G1,missense_variant,p.Phe1585Leu,ENST00000319274,;EIF4G1,missense_variant,p.Phe1545Leu,ENST00000414031,;EIF4G1,missense_variant,p.Phe1585Leu,ENST00000346169,NM_198241.2;EIF4G1,missense_variant,p.Phe1498Leu,ENST00000392537,NM_198244.2;EIF4G1,missense_variant,p.Phe1592Leu,ENST00000382330,NM_001194946.1;EIF4G1,missense_variant,p.Phe1499Leu,ENST00000427845,;EIF4G1,missense_variant,p.Phe1390Leu,ENST00000434061,NM_004953.4;EIF4G1,missense_variant,p.Phe1421Leu,ENST00000350481,NM_198242.2;EIF4G1,missense_variant,p.Phe1592Leu,ENST00000352767,NM_001194947.1;EIF4G1,missense_variant,p.Phe1546Leu,ENST00000411531,;EIF4G1,missense_variant,p.Phe1389Leu,ENST00000435046,;EIF4G1,missense_variant,p.Phe1422Leu,ENST00000441154,;EIF2B5,intron_variant,,ENST00000444495,;FAM131A,upstream_gene_variant,,ENST00000340957,NM_001171093.1;FAM131A,upstream_gene_variant,,ENST00000418281,;FAM131A,upstream_gene_variant,,ENST00000383847,NM_144635.4;FAM131A,upstream_gene_variant,,ENST00000450976,;FAM131A,upstream_gene_variant,,ENST00000453072,;FAM131A,upstream_gene_variant,,ENST00000418768,;FAM131A,upstream_gene_variant,,ENST00000433578,;FAM131A,upstream_gene_variant,,ENST00000497070,;EIF4G1,3_prime_UTR_variant,,ENST00000442406,;EIF4G1,non_coding_transcript_exon_variant,,ENST00000460829,;EIF4G1,non_coding_transcript_exon_variant,,ENST00000475721,;EIF4G1,downstream_gene_variant,,ENST00000422614,;EIF4G1,downstream_gene_variant,,ENST00000464548,;EIF4G1,downstream_gene_variant,,ENST00000478291,;	uc003fnp.2	c.4755C>G	5026/5516	3	3			c.4755C>G						3	SNP	c.(4753-4755)TTC>TTG	54	54			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Broad	eukaryotic translation initiation factor 4			184052651		0.607	ENSG00000114867	4951	g.chr3:184052651C>G	insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			439			439	158.064462	KEEP	21	29	-1	31	32	21	29	-1	158.421406	31	32	0.436893	1	0	0	0	0	1	0	0	0	--	--		0	G			EIF4G1_uc003fnt.2_Missense_Mutation_p.F1296L|EIF4G1_uc003fnq.2_Missense_Mutation_p.F1498L|EIF4G1_uc003fnr.2_Missense_Mutation_p.F1421L|EIF4G1_uc010hxx.2_Missense_Mutation_p.F1592L|EIF4G1_uc003fns.2_Missense_Mutation_p.F1545L|EIF4G1_uc010hxy.2_Missense_Mutation_p.F1592L|EIF4G1_uc003fnv.3_Missense_Mutation_p.F1586L|EIF4G1_uc003fnu.3_Missense_Mutation_p.F1585L|EIF4G1_uc003fnw.2_Missense_Mutation_p.F1592L|EIF4G1_uc003fny.3_Missense_Mutation_p.F1389L|EIF4G1_uc003foa.2_Missense_Mutation_p.F257L|FAM131A_uc003fob.1_5'Flank|FAM131A_uc003foc.2_5'Flank|FAM131A_uc003fod.1_5'Flank	99	GBM-06-5417-TP	p.F1585L	C	TCACAGCCTTCTTCAAGTGGC	NM_198241	NP_937884	184052651	Q04637	IF4G1_HUMAN	0	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		33	4953	+	G	G	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Missense_Mutation	1585			W2.|Necessary but not sufficient for MKNK1- binding.|EIF4A-binding.			
EIF4G1	0	broad.mit.edu	GRCh37	3	184044341	184044341	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000346169.2:c.3249G>A	p.Gln1083=	p.Q1083=	ENST00000346169	NM_198241.2	1083	caG/caA	0			1			A	Q	uc003fnp.2	protein_coding		CCDS3259.1			3249/4800									lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	c.(3247-3249)CAG>CAA			hmmpanther:PTHR23253,hmmpanther:PTHR23253:SF10	eukaryotic translation initiation factor 4				ENSP00000316879		22/33									COSM3408480	22/33	.		ENST00000346169	Transcript	1		insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	ENSG00000114867	g.chr3:184044341G>A	3296			LOW								--	--	1																																		EIF4G1_uc003fnt.2_Silent_p.Q794Q|EIF4G1_uc003fnq.2_Silent_p.Q996Q|EIF4G1_uc003fnr.2_Silent_p.Q919Q|EIF4G1_uc010hxx.2_Silent_p.Q1090Q|EIF4G1_uc003fns.2_Silent_p.Q1043Q|EIF4G1_uc010hxy.2_Silent_p.Q1090Q|EIF4G1_uc003fnv.3_Silent_p.Q1084Q|EIF4G1_uc003fnu.3_Silent_p.Q1083Q|EIF4G1_uc003fnw.2_Silent_p.Q1090Q|EIF4G1_uc003fnx.2_Silent_p.Q888Q|EIF4G1_uc003fny.3_Silent_p.Q887Q|EIF4G1_uc003foa.2_5'Flank	1				p.Q1083Q	NM_198241	NP_937884			1	IF4G1_HUMAN	EIF4G1	HGNC	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Q96I65_HUMAN,C9JWW9_HUMAN,C9JWH7_HUMAN,C9JSU8_HUMAN,C9JIH5_HUMAN,C9J987_HUMAN,C9J6B6_HUMAN,C9J556_HUMAN		22	3447	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		UPI00003671E5	1083			eIF3/EIF4A-binding.		SNV	EIF4G1,synonymous_variant,p.=,ENST00000342981,NM_182917.4;EIF4G1,synonymous_variant,p.=,ENST00000424196,;EIF4G1,synonymous_variant,p.=,ENST00000319274,;EIF4G1,synonymous_variant,p.=,ENST00000414031,;EIF4G1,synonymous_variant,p.=,ENST00000346169,NM_198241.2;EIF4G1,synonymous_variant,p.=,ENST00000392537,NM_198244.2;EIF4G1,synonymous_variant,p.=,ENST00000382330,NM_001194946.1;EIF4G1,synonymous_variant,p.=,ENST00000427845,;EIF4G1,synonymous_variant,p.=,ENST00000434061,NM_004953.4;EIF4G1,synonymous_variant,p.=,ENST00000350481,NM_198242.2;EIF4G1,synonymous_variant,p.=,ENST00000352767,NM_001194947.1;EIF4G1,synonymous_variant,p.=,ENST00000411531,;EIF4G1,synonymous_variant,p.=,ENST00000435046,;EIF4G1,synonymous_variant,p.=,ENST00000441154,;EIF4G1,synonymous_variant,p.=,ENST00000448284,;EIF2B5,intron_variant,,ENST00000444495,;EIF4G1,downstream_gene_variant,,ENST00000426123,;EIF4G1,downstream_gene_variant,,ENST00000421110,;EIF4G1,downstream_gene_variant,,ENST00000450424,;EIF4G1,downstream_gene_variant,,ENST00000444861,;EIF4G1,downstream_gene_variant,,ENST00000457456,;EIF4G1,downstream_gene_variant,,ENST00000427607,;EIF4G1,downstream_gene_variant,,ENST00000444134,;EIF4G1,downstream_gene_variant,,ENST00000428387,;SNORD66,downstream_gene_variant,,ENST00000390856,NR_003055.1;EIF4G1,3_prime_UTR_variant,,ENST00000442406,;EIF4G1,non_coding_transcript_exon_variant,,ENST00000466311,;EIF4G1,downstream_gene_variant,,ENST00000413967,;EIF4G1,upstream_gene_variant,,ENST00000460829,;EIF4G1,upstream_gene_variant,,ENST00000475721,;EIF4G1,upstream_gene_variant,,ENST00000422614,;EIF4G1,upstream_gene_variant,,ENST00000464548,;EIF4G1,upstream_gene_variant,,ENST00000478291,;EIF4G1,upstream_gene_variant,,ENST00000482303,;	uc003fnp.2	c.3249G>A	3520/5516	2	2			c.3249G>A						3	SNP	c.(3247-3249)CAG>CAA	17	17			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Broad	eukaryotic translation initiation factor 4			184044341		0.587	ENSG00000114867	4951	g.chr3:184044341G>A	insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			439			439	46.865491	KEEP	13	16	-1	81	72	13	16	-1	64.244107	81	72	0.159236	1	0	0	0	0	0	0	1	0	--	--		0	A			EIF4G1_uc003fnt.2_Silent_p.Q794Q|EIF4G1_uc003fnq.2_Silent_p.Q996Q|EIF4G1_uc003fnr.2_Silent_p.Q919Q|EIF4G1_uc010hxx.2_Silent_p.Q1090Q|EIF4G1_uc003fns.2_Silent_p.Q1043Q|EIF4G1_uc010hxy.2_Silent_p.Q1090Q|EIF4G1_uc003fnv.3_Silent_p.Q1084Q|EIF4G1_uc003fnu.3_Silent_p.Q1083Q|EIF4G1_uc003fnw.2_Silent_p.Q1090Q|EIF4G1_uc003fnx.2_Silent_p.Q888Q|EIF4G1_uc003fny.3_Silent_p.Q887Q|EIF4G1_uc003foa.2_5'Flank	213	GBM-28-2513-TP	p.Q1083Q	G	CTAACAACCAGCTCTTTGCAC	NM_198241	NP_937884	184044341	Q04637	IF4G1_HUMAN	0	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		22	3447	+	A	A	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Silent	1083			eIF3/EIF4A-binding.			
EIF4G3	8672	broad.mit.edu	GRCh37	1	21268743	21268743	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-5413-01	TCGA-06-5413-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000602326.1:c.754C>G	p.Gln252Glu	p.Q252E	ENST00000602326	NM_001198802.1	252	Caa/Gaa	0			1			C	Q/E	uc001bec.2	protein_coding		CCDS214.1			736/4758									skin(1)	1	c.(736-738)CAA>GAA			hmmpanther:PTHR23253,hmmpanther:PTHR23253:SF23	eukaryotic translation initiation factor 4				ENSP00000264211		31-Aug									COSM2153197,COSM3400283,COSM2153196	31-Aug	.		ENST00000264211	Transcript			interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	ENSG00000075151	g.chr1:21268743G>C	3298			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=IF4G3_HUMAN&rb=201&re=400&var=Q246E	NA	getma.org/?cm=var&var=hg19,1,21268743,G,C&fts=all	Q246E	--	--	1																																		EIF4G3_uc010odi.1_5'UTR|EIF4G3_uc010odj.1_Missense_Mutation_p.Q245E|EIF4G3_uc009vpz.2_Intron|EIF4G3_uc001bed.2_Missense_Mutation_p.Q246E|EIF4G3_uc001bef.2_Missense_Mutation_p.Q245E|EIF4G3_uc001bee.2_Missense_Mutation_p.Q252E|EIF4G3_uc001beg.2_Missense_Mutation_p.Q245E|EIF4G3_uc010odk.1_Missense_Mutation_p.Q246E|EIF4G3_uc001beh.2_Missense_Mutation_p.Q257E	1,1,1			benign(0.04)	p.Q246E	NM_003760	NP_003751		tolerated_low_confidence(0.38)	1,1,1	IF4G3_HUMAN	EIF4G3	HGNC	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	F5H564_HUMAN,B1AN91_HUMAN		9	992	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	UPI0000070825	246					SNV	EIF4G3,missense_variant,p.Gln252Glu,ENST00000602326,NM_001198802.1;EIF4G3,missense_variant,p.Gln246Glu,ENST00000400422,NM_001198801.1;EIF4G3,missense_variant,p.Gln246Glu,ENST00000264211,NM_003760.4;EIF4G3,missense_variant,p.Gln252Glu,ENST00000374937,;EIF4G3,missense_variant,p.Gln257Glu,ENST00000356916,NM_001198803.1;EIF4G3,missense_variant,p.Gln246Glu,ENST00000374927,;EIF4G3,5_prime_UTR_variant,,ENST00000536266,;EIF4G3,intron_variant,,ENST00000374935,;EIF4G3,upstream_gene_variant,,ENST00000544689,;EIF4G3,upstream_gene_variant,,ENST00000374933,;EIF4G3,upstream_gene_variant,,ENST00000485722,;	uc001bec.2	c.736C>G	931/5802	3	3			c.736C>G						1	SNP	c.(736-738)CAA>GAA	56	56			skin(1)	1	Broad	eukaryotic translation initiation factor 4			21268743		0.448	ENSG00000075151	4953	g.chr1:21268743G>C	interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity							144.576977	KEEP	21	29	-1	46	46	21	29	-1	147.036803	46	46	0.349593	1	0	0	0	0	1	0	0	0	--	--		0	C			EIF4G3_uc010odi.1_5'UTR|EIF4G3_uc010odj.1_Missense_Mutation_p.Q245E|EIF4G3_uc009vpz.2_Intron|EIF4G3_uc001bed.2_Missense_Mutation_p.Q246E|EIF4G3_uc001bef.2_Missense_Mutation_p.Q245E|EIF4G3_uc001bee.2_Missense_Mutation_p.Q252E|EIF4G3_uc001beg.2_Missense_Mutation_p.Q245E|EIF4G3_uc010odk.1_Missense_Mutation_p.Q246E|EIF4G3_uc001beh.2_Missense_Mutation_p.Q257E	96	GBM-06-5413-TP	p.Q246E	G	TGGCCTTCTTGTTCTTTCTTC	NM_003760	NP_003751	21268743	O43432	IF4G3_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	9	992	-	C	C		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	Missense_Mutation	246						
EIF4H	0	broad.mit.edu	GRCh37	7	73601967	73601967	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-28-2514-01	TCGA-28-2514-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265753.8:c.86G>T	p.Gly29Val	p.G29V	ENST00000265753	NM_022170.1	29	gGt/gTt	0			1			T	G/V	uc003uad.1	protein_coding	YES	CCDS5564.1			86/747										0	c.(85-87)GGT>GTT			hmmpanther:PTHR23236,Low_complexity_(Seg):seg	eukaryotic translation initiation factor 4H				ENSP00000265753		7-Feb									COSM3412280	7-Feb	.		ENST00000265753	Transcript			interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	ENSG00000106682	g.chr7:73601967G>T	12741			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=IF4H_HUMAN&rb=1&re=43&var=G29V	NA	getma.org/?cm=var&var=hg19,7,73601967,G,T&fts=all	G29V	--	--	1																																		RFC2_uc011kfa.1_Intron|EIF4H_uc011kfg.1_Missense_Mutation_p.G29V|EIF4H_uc010lbm.2_Missense_Mutation_p.G29V|EIF4H_uc003uae.1_Missense_Mutation_p.G29V|EIF4H_uc003uaf.1_Intron	1	1		benign(0.422)	p.G29V	NM_022170	NP_071496		deleterious(0.01)	1	IF4H_HUMAN	EIF4H	HGNC	Q15056	IF4H_HUMAN			Q75MU2_HUMAN,Q75MU1_HUMAN,Q75MT8_HUMAN		2	94	+			UPI000012D373	29					SNV	EIF4H,missense_variant,p.Gly29Val,ENST00000265753,NM_022170.1;EIF4H,missense_variant,p.Gly29Val,ENST00000353999,NM_031992.1;MIR590,upstream_gene_variant,,ENST00000385008,;EIF4H,non_coding_transcript_exon_variant,,ENST00000495187,;EIF4H,non_coding_transcript_exon_variant,,ENST00000489484,;EIF4H,non_coding_transcript_exon_variant,,ENST00000479338,;	uc003uad.1	c.86G>T	225/2679	2	2			c.86G>T						7	SNP	c.(85-87)GGT>GTT	42	42				0	Broad	eukaryotic translation initiation factor 4H			73601967		0.527	ENSG00000106682	4954	g.chr7:73601967G>T	interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity							129.263228	KEEP	32	32	0.5	81	94	32	32	0.5	139.102234	81	94	0.266332	1	0	0	0	0	1	0	0	0	--	--		0	T			RFC2_uc011kfa.1_Intron|EIF4H_uc011kfg.1_Missense_Mutation_p.G29V|EIF4H_uc010lbm.2_Missense_Mutation_p.G29V|EIF4H_uc003uae.1_Missense_Mutation_p.G29V|EIF4H_uc003uaf.1_Intron	214	GBM-28-2514-TP	p.G29V	G	GGTGGCCATGGTTCCCGTAGC	NM_022170	NP_071496	73601967	Q15056	IF4H_HUMAN	0			2	94	+	T	T			Missense_Mutation	29						
EIF4H	7458		GRCh37	7	73609098	73609098	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000265753.8:c.497G>A	p.Arg166Lys	p.R166K	ENST00000265753	NM_022170.1	166	aGg/aAg	0																																																																																																																																																																																																																																												
EIF5B	0	broad.mit.edu	GRCh37	2	99977775	99977777	+	inframe_deletion	In_Frame_Del	DEL	TGA	TGA	-			TCGA-32-4209-01	TCGA-32-4209-01	TGA	TGA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000289371.6:c.424_426delGAT	p.Asp142del	p.D142del	ENST00000289371	NM_015904.3	137	agTGAt/agt	0			1			-	SD/S	uc002tab.2	protein_coding	YES	CCDS42721.1			411-413/3663									ovary(2)|pancreas(1)	3	c.(409-414)AGTGAT>AGT				eukaryotic translation initiation factor 5B				ENSP00000289371		24-Apr	4.14E-05	0.000106				3.04E-05		0.000122	rs773375615	24-Apr	.		ENST00000289371	Transcript			regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	ENSG00000158417	g.chr2:99977775_99977777delTGA	30793	13		MODERATE								--	--	1																																				1			p.D142del	NM_015904	NP_056988				IF2P_HUMAN	EIF5B	HGNC	O60841	IF2P_HUMAN			D3DVI5_HUMAN		4	595_597	+			UPI0000207EC7	142			Poly-Asp.		deletion	EIF5B,inframe_deletion,p.Asp142del,ENST00000289371,NM_015904.3;	uc002tab.2	c.411_413delTGA	613-615/5777	5	5			c.411_413delTGA						2	DEL	c.(409-414)AGTGAT>AGT	3	3			ovary(2)|pancreas(1)	3	Broad	eukaryotic translation initiation factor 5B			99977777		0.345	ENSG00000158417	4959	g.chr2:99977775_99977777delTGA	regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	Colon(162;2388 2567 2705 3444)			Colon(162;2388 2567 2705 3444)																0.02	1	1	0	1	0	0	0	0	0	--	--		0	-				244	GBM-32-4209-TP	p.D142del	TGA	ACTCTGGGAGTGATGATGATGAT	NM_015904	NP_056988	99977775	O60841	IF2P_HUMAN	0			4	595_597	+	-	-			In_Frame_Del	142			Poly-Asp.			
ELANE	0	broad.mit.edu	GRCh37	19	855979	855979	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2629-01	TCGA-19-2629-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263621.1:c.619G>A	p.Val207Ile	p.V207I	ENST00000263621	NM_001972.2	207	Gtc/Atc	0			1			A	V/I	uc002lqb.2	protein_coding		CCDS12045.1			619/804									pancreas(1)	1	c.(619-621)GTC>ATC			Prints_domain:PR00722,Superfamily_domains:SSF50494,SMART_domains:SM00020,Pfam_domain:PF00089,Gene3D:2.40.10.10,PROSITE_patterns:PS00135,hmmpanther:PTHR24257:SF16,hmmpanther:PTHR24257,PROSITE_profiles:PS50240	neutrophil elastase preproprotein	Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)			ENSP00000263621		5-May									COSM3404811	5-May	.	Kostmann_syndrome	ENST00000263621	Transcript	1		cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding	ENSG00000197561	g.chr19:855979G>A	3309			MODERATE		1.675	low	getma.org/?cm=msa&ty=f&p=ELNE_HUMAN&rb=30&re=242&var=V207I	getma.org/pdb.php?prot=ELNE_HUMAN&from=30&to=242&var=V207I	getma.org/?cm=var&var=hg19,19,855979,G,A&fts=all	V207I	--	--	1																																			1			benign(0.188)	p.V207I	NM_001972	NP_001963		tolerated(0.47)	1	ELNE_HUMAN	ELANE	HGNC	P08246	ELNE_HUMAN			B2MUD5_HUMAN		5	657	+			UPI0000129E6B	207			Peptidase S1.		SNV	ELANE,missense_variant,p.Val207Ile,ENST00000590230,;ELANE,missense_variant,p.Val207Ile,ENST00000263621,NM_001972.2;CFD,upstream_gene_variant,,ENST00000327726,NM_001928.2;CFD,upstream_gene_variant,,ENST00000592860,;	uc002lqb.2	c.619G>A	657/920	2	2			c.619G>A						19	SNP	c.(619-621)GTC>ATC	35	35			pancreas(1)	1	Broad	neutrophil elastase preproprotein		Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	855979	Kostmann_syndrome	0.657	ENSG00000197561	4963	g.chr19:855979G>A	cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding							-32.729667	KEEP	2	4	-1	79	94	2	4	-1	7.295234	79	94	0.025	1	0	0	0	0	1	0	0	0	--	--		0	A				166	GBM-19-2629-TP	p.V207I	G	CAGCCCCTTGGTCTGCAACGG	NM_001972	NP_001963	855979	P08246	ELNE_HUMAN	0			5	657	+	A	A			Missense_Mutation	207			Peptidase S1.			
ELAVL2	0	broad.mit.edu	GRCh37	9	23701591	23701591	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-2554-01	TCGA-14-2554-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380117.1:c.499G>T	p.Gly167Cys	p.G167C	ENST00000380117		167	Ggt/Tgt	0			1			A	G/C	uc003zpu.2	protein_coding		CCDS6515.1			499/1080								p.G167D(1)	ovary(2)|central_nervous_system(1)	3	c.(499-501)GGT>TGT			PROSITE_profiles:PS50102,hmmpanther:PTHR24011:SF199,hmmpanther:PTHR24011,TIGRFAM_domain:TIGR01661,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928	ELAV (embryonic lethal, abnormal vision,				ENSP00000369460		7-May	8.24E-06							6.08E-05	rs748871054,COSM3413566,COSM3413567	7-May	.		ENST00000380117	Transcript			regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	ENSG00000107105	g.chr9:23701591C>A	3313			MODERATE		2.575	medium	getma.org/?cm=msa&ty=f&p=ELAV2_HUMAN&rb=127&re=195&var=G167C	getma.org/pdb.php?prot=ELAV2_HUMAN&from=127&to=195&var=G167C	getma.org/?cm=var&var=hg19,9,23701591,C,A&fts=all	G167C	--	--	1																																		ELAVL2_uc003zps.2_Missense_Mutation_p.G167C|ELAVL2_uc003zpt.2_Missense_Mutation_p.G167C|ELAVL2_uc003zpv.2_Missense_Mutation_p.G167C|ELAVL2_uc003zpw.2_Missense_Mutation_p.G167C	0,1,1			probably_damaging(0.999)	p.G167C	NM_004432	NP_004423		deleterious(0.02)	0,1,1	ELAV2_HUMAN	ELAVL2	HGNC	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	C9JB16_HUMAN,B1AM48_HUMAN		5	774	-			UPI000013C83F	167			RRM 2.		SNV	ELAVL2,missense_variant,p.Gly167Cys,ENST00000397312,NM_004432.3;ELAVL2,missense_variant,p.Gly167Cys,ENST00000544538,NM_001171195.1;ELAVL2,missense_variant,p.Gly167Cys,ENST00000223951,NM_001171197.1;ELAVL2,missense_variant,p.Gly196Cys,ENST00000380110,;ELAVL2,missense_variant,p.Gly167Cys,ENST00000380117,;ELAVL2,missense_variant,p.Gly32Cys,ENST00000423281,;ELAVL2,missense_variant,p.Gly167Cys,ENST00000440102,;	uc003zpu.2	c.499G>T	1043/2370	2	2			c.499G>T						9	SNP	c.(499-501)GGT>TGT	33	33		p.G167D(1)	ovary(2)|central_nervous_system(1)	3	Broad	ELAV (embryonic lethal, abnormal vision,			23701591		0.443	ENSG00000107105	4965	g.chr9:23701591C>A	regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding							119.701438	KEEP	19	28	0.595744681	32	22	19	28	0.595744681	119.787743	32	22	0.467391	1	0	0	0	0	1	0	0	0	--	--		0	A			ELAVL2_uc003zps.2_Missense_Mutation_p.G167C|ELAVL2_uc003zpt.2_Missense_Mutation_p.G167C|ELAVL2_uc003zpv.2_Missense_Mutation_p.G167C|ELAVL2_uc003zpw.2_Missense_Mutation_p.G167C	150	GBM-14-2554-TP	p.G167C	C	AACCCTACACCCCTTGATATG	NM_004432	NP_004423	23701591	Q12926	ELAV2_HUMAN	0		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	5	774	-	A	A			Missense_Mutation	167			RRM 2.			
ELF4	2000	broad.mit.edu	GRCh37	X	129200915	129200915	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0154-01	TCGA-06-0154-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308167.5:c.1773G>A	p.Pro591=	p.P591=	ENST00000308167	NM_001421.3	591	ccG/ccA	0			1			T	P	uc004evd.3	protein_coding	YES	CCDS14617.1			1773/1992	T		ERG		AML				ovary(1)	1	c.(1771-1773)CCG>CCA			hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF170	E74-like factor 4				ENSP00000311280		9-Sep	8.24E-06		0.000107						rs750436474,COSM2149928	9-Sep	.		ENST00000308167	Transcript	1		natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000102034	g.chrX:129200915C>T	3319			LOW								--	--	1																																		ELF4_uc004eve.3_Silent_p.P591P	0,1	1			p.P591P	NM_001421	NP_001412			0,1	ELF4_HUMAN	ELF4	HGNC	Q99607	ELF4_HUMAN			B1AL80_HUMAN		9	2158	-			UPI0000072B32	591					SNV	ELF4,synonymous_variant,p.=,ENST00000308167,NM_001421.3;ELF4,synonymous_variant,p.=,ENST00000335997,NM_001127197.1;	uc004evd.3	c.1773G>A	2153/4165	2	2			c.1773G>A	T		ERG		AML	23	SNP	c.(1771-1773)CCG>CCA	25	25			ovary(1)	1	Broad	E74-like factor 4			129200915		0.607	ENSG00000102034	4971	g.chrX:129200915C>T	natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			86			86	340.082243	KEEP	67	49	-1	39	35	67	49	-1	341.986927	39	35	0.614458	1	0	0	0	0	0	0	1	0	--	--		0	T			ELF4_uc004eve.3_Silent_p.P591P	26	GBM-06-0154-TP	p.P591P	C	CCAGAAGGCTCGGATTGTGGG	NM_001421	NP_001412	129200915	Q99607	ELF4_HUMAN	0			9	2158	-	T	T			Silent	591						
ELF4	0	broad.mit.edu	GRCh37	X	129201458	129201458	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-28-2509-01	TCGA-28-2509-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308167.5:c.1230delC	p.Val411TrpfsTer7	p.V411Wfs*7	ENST00000308167	NM_001421.3	410	ccC/cc	0			1			-	P/X	uc004evd.3	protein_coding	YES	CCDS14617.1			1230/1992	T		ERG		AML				ovary(1)	1	c.(1228-1230)CCCfs			hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF170	E74-like factor 4				ENSP00000311280		9-Sep										9-Sep	.		ENST00000308167	Transcript	1		natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000102034	g.chrX:129201458delG	3319			HIGH								--	--	1																																		ELF4_uc004eve.3_Frame_Shift_Del_p.P410fs		1			p.P410fs	NM_001421	NP_001412				ELF4_HUMAN	ELF4	HGNC	Q99607	ELF4_HUMAN			B1AL80_HUMAN		9	1615	-			UPI0000072B32	410					deletion	ELF4,frameshift_variant,p.Val411TrpfsTer7,ENST00000308167,NM_001421.3;ELF4,frameshift_variant,p.Val411TrpfsTer7,ENST00000335997,NM_001127197.1;	uc004evd.3	c.1230delC	1610/4165	5	5			c.1230delC	T		ERG		AML	23	DEL	c.(1228-1230)CCCfs	2	2			ovary(1)	1	Broad	E74-like factor 4			129201458		0.592	ENSG00000102034	4971	g.chrX:129201458delG	natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			86			86														0.22	1	1	0	1	0	0	0	0	0	--	--		0	-			ELF4_uc004eve.3_Frame_Shift_Del_p.P410fs	211	GBM-28-2509-TP	p.P410fs	G	CCGACCCCACGGGGGCCACTC	NM_001421	NP_001412	129201458	Q99607	ELF4_HUMAN	0			9	1615	-	-	-			Frame_Shift_Del	410						
ELF5	2001	broad.mit.edu	GRCh37	11	34515184	34515184	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312319.2:c.227G>A	p.Cys76Tyr	p.C76Y	ENST00000312319	NM_001243081.1	76	tGc/tAc	0			1			T	C/Y	uc001mvo.1	protein_coding	YES	CCDS7892.1			227/798									skin(1)	1	c.(226-228)TGC>TAC			Gene3D:1.10.150.50,Pfam_domain:PF02198,PROSITE_profiles:PS51433,hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF15,SMART_domains:SM00251,Superfamily_domains:SSF47769	E74-like factor 5 ESE-2a				ENSP00000311010		7-Mar									COSM2152128	7-Mar	.		ENST00000312319	Transcript			cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000135374	g.chr11:34515184C>T	3320			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=ELF5_HUMAN&rb=45&re=129&var=C76Y	getma.org/pdb.php?prot=ELF5_HUMAN&from=45&to=129&var=C76Y	getma.org/?cm=var&var=hg19,11,34515184,C,T&fts=all	C76Y	--	--	1																																OREG0020879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ELF5_uc001mvp.1_Missense_Mutation_p.C66Y|ELF5_uc009ykd.1_Intron|ELF5_uc001mvq.1_Missense_Mutation_p.C66Y	1	1		probably_damaging(0.999)	p.C76Y	NM_198381	NP_938195		tolerated(1)	1	ELF5_HUMAN	ELF5	HGNC	Q9UKW6	ELF5_HUMAN			A8K443_HUMAN		3	457	-		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)	UPI000006EFE4	76			PNT.		SNV	ELF5,missense_variant,p.Cys76Tyr,ENST00000312319,NM_001243081.1,NM_198381.1;ELF5,missense_variant,p.Cys66Tyr,ENST00000532417,;ELF5,missense_variant,p.Cys66Tyr,ENST00000257832,NM_001422.3;ELF5,intron_variant,,ENST00000429939,NM_001243080.1;ELF5,intron_variant,,ENST00000528709,;	uc001mvo.1	c.227G>A	457/2450	1	1			c.227G>A						11	SNP	c.(226-228)TGC>TAC	3	3			skin(1)	1	Broad	E74-like factor 5 ESE-2a			34515184		0.527	ENSG00000135374	4972	g.chr11:34515184C>T	cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	Melanoma(61;202 1660 4348 21594)			Melanoma(61;202 1660 4348 21594)			80.628417	KEEP	20	16	-1	31	23	20	16	-1	81.450434	31	23	0.38961	1	0	0	0	0	1	0	0	0	--	--		0	T	OREG0020879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ELF5_uc001mvp.1_Missense_Mutation_p.C66Y|ELF5_uc009ykd.1_Intron|ELF5_uc001mvq.1_Missense_Mutation_p.C66Y	73	GBM-06-0877-TP	p.C76Y	C	CTGGTCGCAGCAGAACTGGAG	NM_198381	NP_938195	34515184	Q9UKW6	ELF5_HUMAN	0			3	457	-	T	T		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)	Missense_Mutation	76			PNT.			
ELFN2	0	broad.mit.edu	GRCh37	22	37769172	37769172	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-2524-01	TCGA-27-2524-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000402918.2:c.2403C>T	p.Asp801=	p.D801=	ENST00000402918	NM_052906.3	801	gaC/gaT	0			1			A	D	uc003asq.3	protein_coding	YES	CCDS33642.1			2403/2463									upper_aerodigestive_tract(1)|ovary(1)	2	c.(2401-2403)GAC>GAT				leucine rich repeat containing 62				ENSP00000385277		3-Mar									COSM1751858	3-Mar	.		ENST00000402918	Transcript				cell surface|integral to membrane		ENSG00000166897	g.chr22:37769172G>A	29396			LOW								--	--	1																																			1	1			p.D801D	NM_052906	NP_443138			1	PPR29_HUMAN	ELFN2	HGNC	Q5R3F8	LRFN6_HUMAN					3	3189	-	Melanoma(58;0.0574)		UPI000004E87D	801			Cytoplasmic (Potential).		SNV	ELFN2,synonymous_variant,p.=,ENST00000402918,NM_052906.3;RP1-63G5.5,intron_variant,,ENST00000430883,;RP1-63G5.5,intron_variant,,ENST00000452946,;RP1-63G5.8,downstream_gene_variant,,ENST00000609322,;ELFN2,downstream_gene_variant,,ENST00000435824,;ELFN2,downstream_gene_variant,,ENST00000415408,;ELFN2,downstream_gene_variant,,ENST00000414347,;ELFN2,downstream_gene_variant,,ENST00000451509,;ELFN2,downstream_gene_variant,,ENST00000424973,;	uc003asq.3	c.2403C>T	3189/8361	2	2			c.2403C>T						22	SNP	c.(2401-2403)GAC>GAT	23	23			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	leucine rich repeat containing 62			37769172		0.632	ENSG00000166897	4973	g.chr22:37769172G>A		cell surface|integral to membrane								122.246909	KEEP	22	30	-1	42	43	22	30	-1	124.116506	42	43	0.362832	1	0	0	0	0	0	0	1	0	--	--		0	A				202	GBM-27-2524-TP	p.D801D	G	GCAGATCCTCGTCCTTGGCGA	NM_052906	NP_443138	37769172	Q5R3F8	LRFN6_HUMAN	0			3	3189	-	A	A	Melanoma(58;0.0574)		Silent	801			Cytoplasmic (Potential).			
ELFN2	0	broad.mit.edu	GRCh37	22	37769438	37769438	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01	TCGA-41-3393-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000402918.2:c.2137C>T	p.Pro713Ser	p.P713S	ENST00000402918	NM_052906.3	713	Ccc/Tcc	0			1			A	P/S	uc003asq.3	protein_coding	YES	CCDS33642.1			2137/2463									upper_aerodigestive_tract(1)|ovary(1)	2	c.(2137-2139)CCC>TCC			hmmpanther:PTHR24367:SF248,hmmpanther:PTHR24367	leucine rich repeat containing 62				ENSP00000385277		3-Mar									COSM3405658	3-Mar	.		ENST00000402918	Transcript				cell surface|integral to membrane		ENSG00000166897	g.chr22:37769438G>A	29396			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=PPR29_HUMAN&rb=601&re=800&var=P713S	NA	getma.org/?cm=var&var=hg19,22,37769438,G,A&fts=all	P713S	--	--	1																																			1	1		probably_damaging(1)	p.P713S	NM_052906	NP_443138		deleterious(0)	1	PPR29_HUMAN	ELFN2	HGNC	Q5R3F8	LRFN6_HUMAN					3	2923	-	Melanoma(58;0.0574)		UPI000004E87D	713			Cytoplasmic (Potential).		SNV	ELFN2,missense_variant,p.Pro713Ser,ENST00000402918,NM_052906.3;RP1-63G5.5,intron_variant,,ENST00000430883,;RP1-63G5.5,intron_variant,,ENST00000452946,;RP1-63G5.8,downstream_gene_variant,,ENST00000609322,;ELFN2,downstream_gene_variant,,ENST00000435824,;ELFN2,downstream_gene_variant,,ENST00000415408,;ELFN2,downstream_gene_variant,,ENST00000414347,;ELFN2,downstream_gene_variant,,ENST00000451509,;ELFN2,downstream_gene_variant,,ENST00000424973,;	uc003asq.3	c.2137C>T	2923/8361	1	1			c.2137C>T						22	SNP	c.(2137-2139)CCC>TCC	64	64			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	leucine rich repeat containing 62			37769438		0.552	ENSG00000166897	4973	g.chr22:37769438G>A		cell surface|integral to membrane								3.914931	KEEP	3	0	-1	12	10	3	0	-1	6.966345	12	10	0.130435	1	0	0	0	0	1	0	0	0	--	--		0	A				255	GBM-41-3393-TP	p.P713S	G	TACAGGGCGGGAAAGCTGTGC	NM_052906	NP_443138	37769438	Q5R3F8	LRFN6_HUMAN	0			3	2923	-	A	A	Melanoma(58;0.0574)		Missense_Mutation	713			Cytoplasmic (Potential).			
ELK1	0	broad.mit.edu	GRCh37	X	47496310	47496310	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01	TCGA-19-5951-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000247161.3:c.1205G>A	p.Ser402Asn	p.S402N	ENST00000247161	NM_005229.4	402	aGc/aAc	0			1			T	S/N	uc004dik.3	protein_coding	YES	CCDS14283.1			1205/1287									ovary(2)	2	c.(1204-1206)AGC>AAC			hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF178	ELK1 protein				ENSP00000247161		6-Jun									COSM3406396,COSM3406397	6-Jun	.		ENST00000247161	Transcript			innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000126767	g.chrX:47496310C>T	3321			MODERATE		0.51	neutral	getma.org/?cm=msa&ty=f&p=ELK1_HUMAN&rb=289&re=428&var=S402N	NA	getma.org/?cm=var&var=hg19,X,47496310,C,T&fts=all	S402N	--	--	1																																		ELK1_uc010nhv.2_Missense_Mutation_p.S402N|ELK1_uc010nhw.2_Missense_Mutation_p.S292N|ELK1_uc004dil.3_RNA	1,1	1		benign(0.006)	p.S402N	NM_001114123	NP_001107595		tolerated(0.43)	1,1	ELK1_HUMAN	ELK1	HGNC	P19419	ELK1_HUMAN			Q8N9S0_HUMAN,Q86SR6_HUMAN,K7ENR1_HUMAN		7	1527	-			UPI0000129E66	402					SNV	ELK1,missense_variant,p.Ser402Asn,ENST00000247161,NM_005229.4;ELK1,missense_variant,p.Ser402Asn,ENST00000376983,NM_001114123.2;ELK1,missense_variant,p.Ser348Asn,ENST00000592066,;ELK1,downstream_gene_variant,,ENST00000343894,NM_001257168.1;ELK1,non_coding_transcript_exon_variant,,ENST00000480157,;	uc004dik.3	c.1205G>A	1305/2695	1	1			c.1205G>A						23	SNP	c.(1204-1206)AGC>AAC	8	8			ovary(2)	2	Broad	ELK1 protein			47496310		0.597	ENSG00000126767	4974	g.chrX:47496310C>T	innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			33			33	16.375657	KEEP	3	3	-1	2	3	3	3	-1	16.399776	2	3	0.555556	1	0	0	0	0	1	0	0	0	--	--		0	T			ELK1_uc010nhv.2_Missense_Mutation_p.S402N|ELK1_uc010nhw.2_Missense_Mutation_p.S292N|ELK1_uc004dil.3_RNA	171	GBM-19-5951-TP	p.S402N	C	CACCTGGGCGCTGCCACTGGA	NM_001114123	NP_001107595	47496310	P19419	ELK1_HUMAN	0			7	1527	-	T	T			Missense_Mutation	402						
ELK1	0	broad.mit.edu	GRCh37	X	47509844	47509844	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A			TCGA-27-2526-01	TCGA-27-2526-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000247161.3:c.-57C>T		*19*	ENST00000247161	NM_005229.4			0			1			A		uc004dik.3	protein_coding	YES	CCDS14283.1			-/1287									ovary(2)	2	c.(-164--160)AACGC>AATGC				ELK1 protein				ENSP00000247161		6-Jan										6-Jan	.		ENST00000247161	Transcript			innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000126767	g.chrX:47509844G>A	3321			MODIFIER								--	--	1																																		ELK1_uc010nhv.2_Translation_Start_Site|ELK1_uc010nhw.2_Translation_Start_Site|ELK1_uc004dil.3_RNA		1				NM_001114123	NP_001107595				ELK1_HUMAN	ELK1	HGNC	P19419	ELK1_HUMAN			Q8N9S0_HUMAN,Q86SR6_HUMAN,K7ENR1_HUMAN		1	160	-			UPI0000129E66						SNV	ELK1,5_prime_UTR_variant,,ENST00000247161,NM_005229.4;ELK1,5_prime_UTR_variant,,ENST00000376983,NM_001114123.2;ELK1,5_prime_UTR_variant,,ENST00000592066,;ELK1,5_prime_UTR_variant,,ENST00000343894,NM_001257168.1;UXT,downstream_gene_variant,,ENST00000335890,NM_153477.2;UXT,downstream_gene_variant,,ENST00000333119,NM_004182.3;ELK1,non_coding_transcript_exon_variant,,ENST00000468956,;ELK1,non_coding_transcript_exon_variant,,ENST00000480157,;UXT,downstream_gene_variant,,ENST00000460840,;UXT,downstream_gene_variant,,ENST00000485641,;	uc004dik.3	c.-162C>T	44/2695	1	1			c.-162C>T						23	SNP	c.(-164--160)AACGC>AATGC	52	52			ovary(2)	2	Broad	ELK1 protein			47509844		0.622	ENSG00000126767	4974	g.chrX:47509844G>A	innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			33			33	20.691609	KEEP	11	2	-1	10	14	11	2	-1	21.692425	10	14	0.296296	1	0	0	0	0	0	0	0	0	--	--		0	A			ELK1_uc010nhv.2_Translation_Start_Site|ELK1_uc010nhw.2_Translation_Start_Site|ELK1_uc004dil.3_RNA	203	GBM-27-2526-TP		G	TGGCGGTGGCGTTGGCAATGT	NM_001114123	NP_001107595	47509844	P19419	ELK1_HUMAN	0			1	160	-	A	A			Translation_Start_Site							
ELK3	2004	broad.mit.edu	GRCh37	12	96640864	96640864	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5417-01	TCGA-06-5417-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000228741.3:c.354C>T	p.Gly118=	p.G118=	ENST00000228741	NM_005230.2	118	ggC/ggT	0			1			T	G	uc001teo.1	protein_coding	YES	CCDS9060.1			354/1224									ovary(1)	1	c.(352-354)GGC>GGT			hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF172,Superfamily_domains:SSF46785	ELK3 protein				ENSP00000228741		5-Mar									COSM2153273	5-Mar	.		ENST00000228741	Transcript			negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	ENSG00000111145	g.chr12:96640864C>T	3325			LOW								--	--	1																																			1	1			p.G118G	NM_005230	NP_005221			1	ELK3_HUMAN	ELK3	HGNC	P41970	ELK3_HUMAN			F8VZQ0_HUMAN,F8VUJ0_HUMAN		3	633	+	all_cancers(2;0.00173)		UPI0000000E09	118					SNV	ELK3,synonymous_variant,p.=,ENST00000228741,NM_005230.2;ELK3,synonymous_variant,p.=,ENST00000547860,;ELK3,intron_variant,,ENST00000552142,;ELK3,upstream_gene_variant,,ENST00000549985,;	uc001teo.1	c.354C>T	680/4205	2	2			c.354C>T						12	SNP	c.(352-354)GGC>GGT	46	46			ovary(1)	1	Broad	ELK3 protein			96640864		0.612	ENSG00000111145	4975	g.chr12:96640864C>T	negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity							45.195432	KEEP	9	7	-1	6	9	9	7	-1	45.202296	6	9	0.516129	1	0	0	0	0	0	0	1	0	--	--		0	T				99	GBM-06-5417-TP	p.G118G	C	CTCCGGAGGGCCGCGAGGCCC	NM_005230	NP_005221	96640864	P41970	ELK3_HUMAN	0			3	633	+	T	T	all_cancers(2;0.00173)		Silent	118						
ELK4	2005		GRCh37	1	205589407	205589407	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000357992.4:c.767C>T	p.Ser256Leu	p.S256L	ENST00000357992	NM_001973.3	256	tCg/tTg	0																																																																																																																																																																																																																																												
ELL2	0	broad.mit.edu	GRCh37	5	95234136	95234136	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-1390-01	TCGA-19-1390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000237853.4:c.1333C>A	p.Leu445Ile	p.L445I	ENST00000237853	NM_012081.5	445	Cta/Ata	0			1			T	L/I	uc003klr.3	protein_coding	YES	CCDS4080.1			1333/1923									central_nervous_system(1)	1	c.(1333-1335)CTA>ATA			hmmpanther:PTHR23288,hmmpanther:PTHR23288:SF8	elongation factor, RNA polymerase II, 2				ENSP00000237853		12-Aug									COSM3410487	12-Aug	.		ENST00000237853	Transcript			regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex		ENSG00000118985	g.chr5:95234136G>T	17064			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=ELL2_HUMAN&rb=293&re=492&var=L445I	NA	getma.org/?cm=var&var=hg19,5,95234136,G,T&fts=all	L445I	--	--	1																																			1	1		benign(0.003)	p.L445I	NM_012081	NP_036213		tolerated(0.36)	1	ELL2_HUMAN	ELL2	HGNC	O00472	ELL2_HUMAN		all cancers(79;2.16e-15)	Q59FW6_HUMAN,B4DTQ1_HUMAN		8	1683	-		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)	UPI000013CA27	445					SNV	ELL2,missense_variant,p.Leu445Ile,ENST00000237853,NM_012081.5;ELL2,missense_variant,p.Leu195Ile,ENST00000431061,;ELL2,downstream_gene_variant,,ENST00000513343,;ELL2,upstream_gene_variant,,ENST00000508757,;ELL2,downstream_gene_variant,,ENST00000505584,;	uc003klr.3	c.1333C>A	1683/6046	1	1			c.1333C>A						5	SNP	c.(1333-1335)CTA>ATA	8	8			central_nervous_system(1)	1	Broad	elongation factor, RNA polymerase II, 2			95234136		0.373	ENSG00000118985	4978	g.chr5:95234136G>T	regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex								165.043151	KEEP	35	38	0.479452055	141	112	35	38	0.479452055	185.296591	141	112	0.222997	1	0	0	0	0	1	0	0	0	--	--		0	T				159	GBM-19-1390-TP	p.L445I	G	GGACACTTTAGTAGAACGGAA	NM_012081	NP_036213	95234136	O00472	ELL2_HUMAN	0		all cancers(79;2.16e-15)	8	1683	-	T	T		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)	Missense_Mutation	445						
ELMO1	9844	broad.mit.edu	GRCh37	7	37251095	37251095	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-02-0003-01	TCGA-02-0003-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310758.4:c.982C>G	p.Arg328Gly	p.R328G	ENST00000310758	NM_014800.10	328	Cga/Gga	0			1			C	R/G	uc003tfk.1	protein_coding	YES	CCDS5449.1			982/2184									ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6	c.(982-984)CGA>GGA			PROSITE_profiles:PS51335,hmmpanther:PTHR12771:SF23,hmmpanther:PTHR12771,Pfam_domain:PF04727	engulfment and cell motility 1 isoform 1				ENSP00000312185		13/22									COSM2148922	13/22	.		ENST00000310758	Transcript			actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	ENSG00000155849	g.chr7:37251095G>C	16286			MODERATE		2.375	medium	getma.org/?cm=msa&ty=f&p=ELMO1_HUMAN&rb=300&re=482&var=R328G	NA	getma.org/?cm=var&var=hg19,7,37251095,G,C&fts=all	R328G	--	--	1																																		ELMO1_uc011kbc.1_Missense_Mutation_p.R232G|ELMO1_uc010kxg.1_Missense_Mutation_p.R328G	1	1		probably_damaging(0.995)	p.R328G	NM_014800	NP_055615		deleterious(0.01)	1	ELMO1_HUMAN	ELMO1	HGNC	Q92556	ELMO1_HUMAN			C9JIW2_HUMAN,C9JB20_HUMAN,C9J5X3_HUMAN,B4DJV6_HUMAN,A4D1X5_HUMAN		13	1289	-			UPI000006F687	328			ELMO.		SNV	ELMO1,missense_variant,p.Arg328Gly,ENST00000310758,NM_014800.10,NM_001206480.1;ELMO1,missense_variant,p.Arg328Gly,ENST00000442504,NM_001206482.1;ELMO1,missense_variant,p.Arg328Gly,ENST00000448602,;ELMO1,missense_variant,p.Arg69Gly,ENST00000424212,;ELMO1,missense_variant,p.Arg108Gly,ENST00000433246,;ELMO1,missense_variant,p.Arg66Gly,ENST00000420636,;ELMO1,non_coding_transcript_exon_variant,,ENST00000487336,;	uc003tfk.1	c.982C>G	1630/4022	3	3			c.982C>G						7	SNP	c.(982-984)CGA>GGA	49	49			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6	Broad	engulfment and cell motility 1 isoform 1			37251095		0.428	ENSG00000155849	4980	g.chr7:37251095G>C	actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding							143.454656	KEEP	24	20	-1	28	40	24	20	-1	144.643955	28	40	0.386792	1	0	0	0	0	1	0	0	0	--	--		0	C			ELMO1_uc011kbc.1_Missense_Mutation_p.R232G|ELMO1_uc010kxg.1_Missense_Mutation_p.R328G	1	GBM-02-0003-TP	p.R328G	G	GCAATTCTTCGAAGTTCAAAT	NM_014800	NP_055615	37251095	Q92556	ELMO1_HUMAN	0			13	1289	-	C	C			Missense_Mutation	328			ELMO.			
ELMO1	9844	broad.mit.edu	GRCh37	7	37253052	37253052	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01	TCGA-06-0744-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310758.4:c.842G>A	p.Arg281Gln	p.R281Q	ENST00000310758	NM_014800.10	281	cGa/cAa	0			1			T	R/Q	uc003tfk.1	protein_coding	YES	CCDS5449.1			842/2184									ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6	c.(841-843)CGA>CAA			hmmpanther:PTHR12771:SF23,hmmpanther:PTHR12771,Pfam_domain:PF11841	engulfment and cell motility 1 isoform 1				ENSP00000312185		22-Dec	1.65E-05							0.000126	rs746313086,COSM2151669	22-Dec	.		ENST00000310758	Transcript			actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	ENSG00000155849	g.chr7:37253052C>T	16286			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=ELMO1_HUMAN&rb=114&re=281&var=R281Q	NA	getma.org/?cm=var&var=hg19,7,37253052,C,T&fts=all	R281Q	--	--	1																																		ELMO1_uc011kbc.1_Missense_Mutation_p.R185Q|ELMO1_uc010kxg.1_Missense_Mutation_p.R281Q	0,1	1		probably_damaging(0.999)	p.R281Q	NM_014800	NP_055615		tolerated(0.32)	0,1	ELMO1_HUMAN	ELMO1	HGNC	Q92556	ELMO1_HUMAN			C9JIW2_HUMAN,C9JB20_HUMAN,C9J5X3_HUMAN,B4DJV6_HUMAN,A4D1X5_HUMAN		12	1149	-			UPI000006F687	281					SNV	ELMO1,missense_variant,p.Arg281Gln,ENST00000310758,NM_014800.10,NM_001206480.1;ELMO1,missense_variant,p.Arg281Gln,ENST00000442504,NM_001206482.1;ELMO1,missense_variant,p.Arg281Gln,ENST00000448602,;ELMO1,missense_variant,p.Arg22Gln,ENST00000424212,;ELMO1,missense_variant,p.Arg61Gln,ENST00000433246,;ELMO1,missense_variant,p.Arg19Gln,ENST00000420636,;ELMO1,non_coding_transcript_exon_variant,,ENST00000487336,;	uc003tfk.1	c.842G>A	1490/4022	2	2			c.842G>A						7	SNP	c.(841-843)CGA>CAA	45	45			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6	Broad	engulfment and cell motility 1 isoform 1			37253052		0.433	ENSG00000155849	4980	g.chr7:37253052C>T	actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding							212.78499	KEEP	34	28	-1	21	9	34	28	-1	215.258836	21	9	0.673913	1	0	0	0	0	1	0	0	0	--	--		0	T			ELMO1_uc011kbc.1_Missense_Mutation_p.R185Q|ELMO1_uc010kxg.1_Missense_Mutation_p.R281Q	66	GBM-06-0744-TP	p.R281Q	C	CCGCTGGGCTCGGATGACATG	NM_014800	NP_055615	37253052	Q92556	ELMO1_HUMAN	0			12	1149	-	T	T			Missense_Mutation	281						
ELMO1	0	broad.mit.edu	GRCh37	7	36917679	36917679	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-16-1045-01	TCGA-16-1045-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310758.4:c.1758G>A	p.Leu586=	p.L586=	ENST00000310758	NM_014800.10	586	ctG/ctA	0			1			T	L	uc003tfk.1	protein_coding	YES	CCDS5449.1			1758/2184									ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6	c.(1756-1758)CTG>CTA			hmmpanther:PTHR12771:SF23,hmmpanther:PTHR12771,Gene3D:2.30.29.30,Superfamily_domains:SSF50729	engulfment and cell motility 1 isoform 1				ENSP00000312185		19/22									COSM3412011	19/22	.		ENST00000310758	Transcript			actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	ENSG00000155849	g.chr7:36917679C>T	16286			LOW								--	--	1																																		ELMO1_uc003tfi.1_Silent_p.L106L|ELMO1_uc003tfj.1_Silent_p.L106L|ELMO1_uc011kbb.1_RNA|ELMO1_uc011kbc.1_Silent_p.L490L|ELMO1_uc010kxg.1_Silent_p.L586L	1	1			p.L586L	NM_014800	NP_055615			1	ELMO1_HUMAN	ELMO1	HGNC	Q92556	ELMO1_HUMAN			C9JIW2_HUMAN,C9JB20_HUMAN,C9J5X3_HUMAN,B4DJV6_HUMAN,A4D1X5_HUMAN		19	2065	-			UPI000006F687	586			PH.		SNV	ELMO1,synonymous_variant,p.=,ENST00000310758,NM_014800.10,NM_001206480.1;ELMO1,synonymous_variant,p.=,ENST00000442504,NM_001206482.1;ELMO1,synonymous_variant,p.=,ENST00000448602,;ELMO1,synonymous_variant,p.=,ENST00000396045,NM_130442.3;ELMO1,synonymous_variant,p.=,ENST00000341056,;ELMO1,synonymous_variant,p.=,ENST00000396040,NM_001039459.2;ELMO1,non_coding_transcript_exon_variant,,ENST00000464262,;ELMO1,intron_variant,,ENST00000487843,;	uc003tfk.1	c.1758G>A	2406/4022	1	1			c.1758G>A						7	SNP	c.(1756-1758)CTG>CTA	15	15			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6	Broad	engulfment and cell motility 1 isoform 1			36917679		0.453	ENSG00000155849	4980	g.chr7:36917679C>T	actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding							-11.196074	KEEP	14	5	-1	101	105	14	5	-1	26.776327	101	105	0.066667	1	0	0	0	0	0	0	1	0	--	--		0	T			ELMO1_uc003tfi.1_Silent_p.L106L|ELMO1_uc003tfj.1_Silent_p.L106L|ELMO1_uc011kbb.1_RNA|ELMO1_uc011kbc.1_Silent_p.L490L|ELMO1_uc010kxg.1_Silent_p.L586L	157	GBM-16-1045-TP	p.L586L	C	CTCCGTAATGCAGGACTTTGT	NM_014800	NP_055615	36917679	Q92556	ELMO1_HUMAN	0			19	2065	-	T	T			Silent	586			PH.			
ELMO1	0	broad.mit.edu	GRCh37	7	37172811	37172811	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01	TCGA-16-1045-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310758.4:c.1115C>T	p.Thr372Met	p.T372M	ENST00000310758	NM_014800.10	372	aCg/aTg	0			1			A	T/M	uc003tfk.1	protein_coding	YES	CCDS5449.1			1115/2184									ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6	c.(1114-1116)ACG>ATG			PROSITE_profiles:PS51335,hmmpanther:PTHR12771:SF23,hmmpanther:PTHR12771,Pfam_domain:PF04727	engulfment and cell motility 1 isoform 1				ENSP00000312185		14/22	1.65E-05		0.000174						rs748062510,COSM1089414	14/22	.		ENST00000310758	Transcript			actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	ENSG00000155849	g.chr7:37172811G>A	16286			MODERATE		0.455	neutral	getma.org/?cm=msa&ty=f&p=ELMO1_HUMAN&rb=300&re=482&var=T372M	NA	getma.org/?cm=var&var=hg19,7,37172811,G,A&fts=all	T372M	--	--	1																																		ELMO1_uc011kbc.1_Missense_Mutation_p.T276M|ELMO1_uc010kxg.1_Missense_Mutation_p.T372M	0,1	1		benign(0.219)	p.T372M	NM_014800	NP_055615		tolerated(0.3)	0,1	ELMO1_HUMAN	ELMO1	HGNC	Q92556	ELMO1_HUMAN			C9JIW2_HUMAN,C9JB20_HUMAN,C9J5X3_HUMAN,B4DJV6_HUMAN,A4D1X5_HUMAN		14	1422	-			UPI000006F687	372			ELMO.		SNV	ELMO1,missense_variant,p.Thr372Met,ENST00000310758,NM_014800.10,NM_001206480.1;ELMO1,missense_variant,p.Thr372Met,ENST00000442504,NM_001206482.1;ELMO1,missense_variant,p.Thr372Met,ENST00000448602,;ELMO1,missense_variant,p.Thr74Met,ENST00000341056,;ELMO1,missense_variant,p.Thr152Met,ENST00000433246,;ELMO1,non_coding_transcript_exon_variant,,ENST00000472359,;ELMO1,missense_variant,p.Thr110Met,ENST00000420636,;ELMO1,non_coding_transcript_exon_variant,,ENST00000487336,;	uc003tfk.1	c.1115C>T	1763/4022	2	2			c.1115C>T						7	SNP	c.(1114-1116)ACG>ATG	45	45			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6	Broad	engulfment and cell motility 1 isoform 1			37172811		0.463	ENSG00000155849	4980	g.chr7:37172811G>A	actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding							80.535748	KEEP	26	12	-1	44	65	26	12	-1	87.118136	44	65	0.258065	1	0	0	0	0	1	0	0	0	--	--		0	A			ELMO1_uc011kbc.1_Missense_Mutation_p.T276M|ELMO1_uc010kxg.1_Missense_Mutation_p.T372M	157	GBM-16-1045-TP	p.T372M	G	TGGAGTCTGCGTGAAGTCCAT	NM_014800	NP_055615	37172811	Q92556	ELMO1_HUMAN	0			14	1422	-	A	A			Missense_Mutation	372			ELMO.			
ELMO1	0	broad.mit.edu	GRCh37	7	37354483	37354483	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01	TCGA-32-1982-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310758.4:c.163G>A	p.Asp55Asn	p.D55N	ENST00000310758	NM_014800.10	55	Gat/Aat	0			1			T	D/N	uc003tfk.1	protein_coding	YES	CCDS5449.1			163/2184									ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6	c.(163-165)GAT>AAT			hmmpanther:PTHR12771:SF23,hmmpanther:PTHR12771	engulfment and cell motility 1 isoform 1				ENSP00000312185		22-Apr									COSM3412012	22-Apr	.		ENST00000310758	Transcript			actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	ENSG00000155849	g.chr7:37354483C>T	16286			MODERATE		2.135	medium	getma.org/?cm=msa&ty=f&p=ELMO1_HUMAN&rb=1&re=113&var=D55N	NA	getma.org/?cm=var&var=hg19,7,37354483,C,T&fts=all	D55N	--	--	1																																		ELMO1_uc010kxg.1_Missense_Mutation_p.D55N	1	1		probably_damaging(0.981)	p.D55N	NM_014800	NP_055615		deleterious(0)	1	ELMO1_HUMAN	ELMO1	HGNC	Q92556	ELMO1_HUMAN			C9JIW2_HUMAN,C9JB20_HUMAN,C9J5X3_HUMAN,B4DJV6_HUMAN,A4D1X5_HUMAN		4	470	-			UPI000006F687	55					SNV	ELMO1,missense_variant,p.Asp55Asn,ENST00000310758,NM_014800.10,NM_001206480.1;ELMO1,missense_variant,p.Asp55Asn,ENST00000442504,NM_001206482.1;ELMO1,missense_variant,p.Asp55Asn,ENST00000448602,;ELMO1,missense_variant,p.Asp55Asn,ENST00000445322,;ELMO1,missense_variant,p.Asp55Asn,ENST00000455879,;ELMO1,missense_variant,p.Asp55Asn,ENST00000455119,;ELMO1,missense_variant,p.Asp55Asn,ENST00000453399,;ELMO1,non_coding_transcript_exon_variant,,ENST00000463390,;	uc003tfk.1	c.163G>A	811/4022	2	2			c.163G>A						7	SNP	c.(163-165)GAT>AAT	29	29			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6	Broad	engulfment and cell motility 1 isoform 1			37354483		0.323	ENSG00000155849	4980	g.chr7:37354483C>T	actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding							16.748365	KEEP	6	7	-1	49	42	6	7	-1	28.962504	49	42	0.130435	1	0	0	0	0	1	0	0	0	--	--		0	T			ELMO1_uc010kxg.1_Missense_Mutation_p.D55N	232	GBM-32-1982-TP	p.D55N	C	TTTGAACTATCGGCATGCTGG	NM_014800	NP_055615	37354483	Q92556	ELMO1_HUMAN	0			4	470	-	T	T			Missense_Mutation	55						
ELMO2	63916	broad.mit.edu	GRCh37	20	45023078	45023078	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01	TCGA-06-0646-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290246.6:c.44C>T	p.Pro15Leu	p.P15L	ENST00000290246	NM_133171.3	15	cCa/cTa	0			1			A	P/L	uc002xrt.1	protein_coding	YES	CCDS13398.1			44/2163									ovary(1)	1	c.(43-45)CCA>CTA				engulfment and cell motility 2				ENSP00000290246		22-Mar									COSM2151328	22-Mar	.		ENST00000290246	Transcript			apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	ENSG00000062598	g.chr20:45023078G>A	17233			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=ELMO2_HUMAN&rb=1&re=113&var=P15L	NA	getma.org/?cm=var&var=hg19,20,45023078,G,A&fts=all	P15L	--	--	1																																		ELMO2_uc002xru.1_Missense_Mutation_p.P15L|ELMO2_uc010zxr.1_Missense_Mutation_p.P15L|ELMO2_uc010zxs.1_5'UTR|ELMO2_uc002xrx.1_Missense_Mutation_p.P15L	1	1		benign(0.334)	p.P15L	NM_133171	NP_573403		tolerated(0.17)	1	ELMO2_HUMAN	ELMO2	HGNC	Q96JJ3	ELMO2_HUMAN			Q7Z5G9_HUMAN,Q5JVZ4_HUMAN,Q5BLP5_HUMAN,F5GZP8_HUMAN		3	254	-		Myeloproliferative disorder(115;0.0122)	UPI000013F6C4	15					SNV	ELMO2,missense_variant,p.Pro15Leu,ENST00000290246,NM_133171.3;ELMO2,missense_variant,p.Pro15Leu,ENST00000396391,NM_182764.1;ELMO2,missense_variant,p.Pro15Leu,ENST00000439931,;ELMO2,missense_variant,p.Pro15Leu,ENST00000352077,;ELMO2,missense_variant,p.Pro15Leu,ENST00000450812,;ELMO2,5_prime_UTR_variant,,ENST00000372176,;ELMO2,5_prime_UTR_variant,,ENST00000445496,;ELMO2,non_coding_transcript_exon_variant,,ENST00000488853,;ELMO2,non_coding_transcript_exon_variant,,ENST00000469801,;ELMO2,non_coding_transcript_exon_variant,,ENST00000497412,;ELMO2,non_coding_transcript_exon_variant,,ENST00000460474,;ELMO2,non_coding_transcript_exon_variant,,ENST00000487583,;ELMO2,upstream_gene_variant,,ENST00000462593,;	uc002xrt.1	c.44C>T	239/3669	1	1			c.44C>T						20	SNP	c.(43-45)CCA>CTA	52	52			ovary(1)	1	Broad	engulfment and cell motility 2			45023078		0.547	ENSG00000062598	4981	g.chr20:45023078G>A	apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding							78.102362	KEEP	22	19	-1	35	26	22	19	-1	79.091801	35	26	0.375	1	0	0	0	0	1	0	0	0	--	--		0	A			ELMO2_uc002xru.1_Missense_Mutation_p.P15L|ELMO2_uc010zxr.1_Missense_Mutation_p.P15L|ELMO2_uc010zxs.1_5'UTR|ELMO2_uc002xrx.1_Missense_Mutation_p.P15L	60	GBM-06-0646-TP	p.P15L	G	GTTAGCACCTGGCCACTCAAT	NM_133171	NP_573403	45023078	Q96JJ3	ELMO2_HUMAN	0			3	254	-	A	A		Myeloproliferative disorder(115;0.0122)	Missense_Mutation	15						
ELMO3	0	broad.mit.edu	GRCh37	16	67235531	67235531	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01	TCGA-41-5651-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393997.2:c.1063G>A	p.Asp355Asn	p.D355N	ENST00000393997	NM_024712.3	355	Gac/Aac	0			1			A	D/N	uc002esa.2	protein_coding	YES	CCDS10833.2			1063/2322										0	c.(1063-1065)GAC>AAC			Pfam_domain:PF04727,hmmpanther:PTHR12771,hmmpanther:PTHR12771:SF16	engulfment and cell motility 3				ENSP00000377566		20-Oct									COSM3402412	20-Oct	.		ENST00000393997	Transcript			apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	ENSG00000102890	g.chr16:67235531G>A	17289			MODERATE		1.715	low	getma.org/?cm=msa&ty=f&p=ELMO3_HUMAN&rb=288&re=469&var=D302N	NA	getma.org/?cm=var&var=hg19,16,67235531,G,A&fts=all	D302N	--	--	1																																		ELMO3_uc002esb.2_Missense_Mutation_p.D338N|ELMO3_uc002esc.2_Missense_Mutation_p.D189N	1	1		probably_damaging(0.975)	p.D355N	NM_024712	NP_078988		tolerated(0.1)	1	ELMO3_HUMAN	ELMO3	HGNC	Q96BJ8	ELMO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)			10	1106	+		Ovarian(137;0.0563)	UPI00006976B6	302					SNV	ELMO3,missense_variant,p.Asp355Asn,ENST00000393997,NM_024712.3;ELMO3,missense_variant,p.Asp338Asn,ENST00000360833,;ELMO3,missense_variant,p.Asp189Asn,ENST00000477898,;E2F4,downstream_gene_variant,,ENST00000379378,NM_001950.3;E2F4,downstream_gene_variant,,ENST00000565226,;MIR328,downstream_gene_variant,,ENST00000385213,;ELMO3,downstream_gene_variant,,ENST00000571638,;E2F4,downstream_gene_variant,,ENST00000567007,;ELMO3,downstream_gene_variant,,ENST00000571587,;E2F4,downstream_gene_variant,,ENST00000567228,;	uc002esa.2	c.1063G>A	1120/2531	1	1			c.1063G>A						16	SNP	c.(1063-1065)GAC>AAC	61	61				0	Broad	engulfment and cell motility 3			67235531		0.612	ENSG00000102890	4982	g.chr16:67235531G>A	apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding							95.52858	KEEP	17	22	-1	21	29	17	22	-1	95.758958	21	29	0.441558	1	0	0	0	0	1	0	0	0	--	--		0	A			ELMO3_uc002esb.2_Missense_Mutation_p.D338N|ELMO3_uc002esc.2_Missense_Mutation_p.D189N	258	GBM-41-5651-TP	p.D355N	G	GACGCCCCTGGACCCCTACAG	NM_024712	NP_078988	67235531	Q96BJ8	ELMO3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	10	1106	+	A	A		Ovarian(137;0.0563)	Missense_Mutation	302						
ELMOD1	0	broad.mit.edu	GRCh37	11	107518220	107518220	+	synonymous_variant	Silent	SNP	T	T	A			TCGA-16-0861-01	TCGA-16-0861-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265840.7:c.447T>A	p.Thr149=	p.T149=	ENST00000265840	NM_018712.3	149	acT/acA	0			1			A	T	uc010rvs.1	protein_coding	YES	CCDS44723.1			447/1005										0	c.(445-447)ACT>ACA			Pfam_domain:PF04727,PROSITE_profiles:PS51335,hmmpanther:PTHR12771,hmmpanther:PTHR12771:SF18	ELMO/CED-12 domain containing 1 isoform 1				ENSP00000265840		12-Jul									COSM3397383	12-Jul	.		ENST00000265840	Transcript			phagocytosis	cytoskeleton	GTPase activator activity	ENSG00000110675	g.chr11:107518220T>A	25334			LOW								--	--	1																																		ELMOD1_uc001pjm.2_Silent_p.T149T|ELMOD1_uc010rvt.1_Silent_p.T143T	1	1			p.T149T	NM_018712	NP_061182			1	ELMD1_HUMAN	ELMOD1	HGNC	Q8N336	ELMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)	E9PLM8_HUMAN		7	851	+		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)	UPI000006DF30	149			ELMO.		SNV	ELMOD1,synonymous_variant,p.=,ENST00000265840,NM_018712.3;ELMOD1,synonymous_variant,p.=,ENST00000443271,NM_001130037.1;ELMOD1,synonymous_variant,p.=,ENST00000531234,;AP000889.1,upstream_gene_variant,,ENST00000530968,;	uc010rvs.1	c.447T>A	712/2852	1	1			c.447T>A						11	SNP	c.(445-447)ACT>ACA	55	55				0	Broad	ELMO/CED-12 domain containing 1 isoform 1			107518220		0.383	ENSG00000110675	4983	g.chr11:107518220T>A	phagocytosis	cytoskeleton	GTPase activator activity							35.723668	KEEP	6	11	-1	35	41	6	11	-1	43.664876	35	41	0.191011	1	0	0	0	0	0	0	1	0	--	--		0	A			ELMOD1_uc001pjm.2_Silent_p.T149T|ELMOD1_uc010rvt.1_Silent_p.T143T	156	GBM-16-0861-TP	p.T149T	T	AGCCCAATACTCCACTGGAAT	NM_018712	NP_061182	107518220	Q8N336	ELMD1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)	7	851	+	A	A		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)	Silent	149			ELMO.			
ELMSAN1	0	broad.mit.edu	GRCh37	14	74203800	74203800	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286523.5:c.1650C>T	p.Asp550=	p.D550=	ENST00000286523	NM_194278.3	550	gaC/gaT	0	A:0	A:0	1	A:0.0014		A	D	uc001xot.2	protein_coding	YES	CCDS9819.1			1650/3138									ovary(4)|central_nervous_system(1)	5	c.(1648-1650)GAC>GAT			hmmpanther:PTHR16089:SF24,hmmpanther:PTHR16089	hypothetical protein LOC91748		A:0	A:0.0001	ENSP00000286523	A:0	12-Mar	0.000189		8.64E-05			4.50E-05		0.00115	rs371285703,COSM2137349	12-Mar	common_variant		ENST00000286523	Transcript		A:0.0004	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	ENSG00000156030	g.chr14:74203800G>A	19853			LOW								--	--	1																																		C14orf43_uc001xou.2_Silent_p.D550D|C14orf43_uc010tud.1_Silent_p.D550D|C14orf43_uc010arw.2_RNA	0,1	1			p.D550D	NM_194278	NP_919254	A:0.001		0,1	EMSA1_HUMAN	ELMSAN1	HGNC	Q6PJG2	CN043_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)	F6RU81_HUMAN,C9JYU7_HUMAN		3	2433	-			UPI00001FD815	550					SNV	ELMSAN1,synonymous_variant,p.=,ENST00000286523,NM_194278.3;ELMSAN1,synonymous_variant,p.=,ENST00000394071,NM_001043318.1;ELMSAN1,synonymous_variant,p.=,ENST00000435371,;ELMSAN1,synonymous_variant,p.=,ENST00000423556,;ELMSAN1,downstream_gene_variant,,ENST00000421708,;ELMSAN1,downstream_gene_variant,,ENST00000486739,;ELMSAN1,synonymous_variant,p.=,ENST00000451078,;	uc001xot.2	c.1650C>T	2433/8091	2	2			c.1650C>T						14	SNP	c.(1648-1650)GAC>GAT	34	34			ovary(4)|central_nervous_system(1)	5	Broad	hypothetical protein LOC91748			74203800		0.602	ENSG00000156030	1737	g.chr14:74203800G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding							158.75084	KEEP	29	27	-1	21	9	29	27	-1	160.234948	21	9	0.64557	1	0	0	0	0	0	0	1	0	--	--		0	A			C14orf43_uc001xou.2_Silent_p.D550D|C14orf43_uc010tud.1_Silent_p.D550D|C14orf43_uc010arw.2_RNA	129	GBM-12-5295-TP	p.D550D	G	GACCCTTCCCGTCCTCATCAA	NM_194278	NP_919254	74203800	Q6PJG2	CN043_HUMAN	0		BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)	3	2433	-	A	A			Silent	550						
ELN	2006	broad.mit.edu	GRCh37	7	73474491	73474491	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-2569-01	TCGA-06-2569-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252034.7:c.1598A>G	p.Lys533Arg	p.K533R	ENST00000252034	NM_000501.3	533	aAg/aGg	0			1			G	K/R	uc003tzw.2	protein_coding					1703/2379	T	Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome	PAX5		B-ALL			p.Q539Q(1)	ovary(3)|pancreas(2)	5	c.(1615-1617)AAG>AGG			hmmpanther:PTHR24018,hmmpanther:PTHR24018:SF2,Low_complexity_(Seg):seg	elastin isoform a precursor	Rofecoxib(DB00533)			ENSP00000351807		25/34									COSM3412278,COSM3412279	25/34	.		ENST00000358929	Transcript	1		blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	ENSG00000049540	g.chr7:73474491A>G	3327			MODERATE								--	--	1																																		RFC2_uc011kfa.1_Intron|ELN_uc003tzn.2_Missense_Mutation_p.K533R|ELN_uc003tzz.2_Missense_Mutation_p.K452R|ELN_uc003tzo.2_Intron|ELN_uc003tzp.2_Missense_Mutation_p.K444R|ELN_uc003tzq.2_Missense_Mutation_p.K397R|ELN_uc003tzr.2_Intron|ELN_uc003tzs.2_Missense_Mutation_p.K514R|ELN_uc003tzt.2_Missense_Mutation_p.K538R|ELN_uc003tzu.2_Missense_Mutation_p.K519R|ELN_uc003tzv.2_Missense_Mutation_p.K504R|ELN_uc003tzx.2_Missense_Mutation_p.K523R|ELN_uc011kff.1_Missense_Mutation_p.K533R|ELN_uc003tzy.2_Missense_Mutation_p.K509R	1,1			unknown(0)	p.K539R	NM_000501	NP_001075224		tolerated_low_confidence(0.12)	1,1		ELN	HGNC	P15502	ELN_HUMAN			Q9UMK5_HUMAN,F8WAH6_HUMAN		24	1707	+		Lung NSC(55;0.159)	UPI0000D61C6B	562			Ala-rich.		SNV	ELN,missense_variant,p.Lys533Arg,ENST00000252034,NM_000501.3,NM_001081755.2,NM_001278915.1;ELN,missense_variant,p.Lys568Arg,ENST00000358929,NM_001278939.1;ELN,missense_variant,p.Lys538Arg,ENST00000357036,NM_001081754.2;ELN,missense_variant,p.Lys519Arg,ENST00000429192,NM_001081753.2;ELN,missense_variant,p.Lys523Arg,ENST00000458204,NM_001278917.1;ELN,missense_variant,p.Lys509Arg,ENST00000414324,NM_001278914.1;ELN,missense_variant,p.Lys514Arg,ENST00000380576,;ELN,missense_variant,p.Lys504Arg,ENST00000380575,NM_001278918.1,NM_001081752.2;ELN,missense_variant,p.Lys452Arg,ENST00000320492,NM_001278913.1;ELN,missense_variant,p.Lys397Arg,ENST00000380553,;ELN,missense_variant,p.Lys533Arg,ENST00000445912,NM_001278912.1;ELN,missense_variant,p.Lys533Arg,ENST00000320399,;ELN,missense_variant,p.Lys539Arg,ENST00000380562,;ELN,intron_variant,,ENST00000380584,NM_001278916.1;CTB-51J22.1,intron_variant,,ENST00000435932,;ELN,downstream_gene_variant,,ENST00000466878,;ELN,downstream_gene_variant,,ENST00000492210,;	uc003tzw.2	c.1616A>G	1794/3674	3	3			c.1616A>G	T	Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome	PAX5		B-ALL	7	SNP	c.(1615-1617)AAG>AGG	64	64		p.Q539Q(1)	ovary(3)|pancreas(2)	5	Broad	elastin isoform a precursor		Rofecoxib(DB00533)	73474491		0.637	ENSG00000049540	4986	g.chr7:73474491A>G	blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			434			434	350.464496	KEEP	48	66	-1	6	8	48	66	-1	366.271139	6	8	0.893204	1	0	0	0	0	1	0	0	0	--	--		0	G			RFC2_uc011kfa.1_Intron|ELN_uc003tzn.2_Missense_Mutation_p.K533R|ELN_uc003tzz.2_Missense_Mutation_p.K452R|ELN_uc003tzo.2_Intron|ELN_uc003tzp.2_Missense_Mutation_p.K444R|ELN_uc003tzq.2_Missense_Mutation_p.K397R|ELN_uc003tzr.2_Intron|ELN_uc003tzs.2_Missense_Mutation_p.K514R|ELN_uc003tzt.2_Missense_Mutation_p.K538R|ELN_uc003tzu.2_Missense_Mutation_p.K519R|ELN_uc003tzv.2_Missense_Mutation_p.K504R|ELN_uc003tzx.2_Missense_Mutation_p.K523R|ELN_uc011kff.1_Missense_Mutation_p.K533R|ELN_uc003tzy.2_Missense_Mutation_p.K509R	90	GBM-06-2569-TP	p.K539R	A	TCCGCTGCCAAGGTGGCTGCC	NM_000501	NP_001075224	73474491	P15502	ELN_HUMAN	0			24	1707	+	G	G		Lung NSC(55;0.159)	Missense_Mutation	562			Ala-rich.			
ELN	0	broad.mit.edu	GRCh37	7	73472022	73472022	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358929.4:c.1497G>A	p.Gln499=	p.Q499=	ENST00000358929	NM_001278939.1	499	caG/caA	0			1			A	Q	uc003tzw.2	protein_coding					1497/2379	T	Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome	PAX5		B-ALL				ovary(3)|pancreas(2)	5	c.(1408-1410)CAG>CAA			hmmpanther:PTHR24018,hmmpanther:PTHR24018:SF2	elastin isoform a precursor	Rofecoxib(DB00533)			ENSP00000351807		23/34									COSM2157496,COSM3412277	23/34	.		ENST00000358929	Transcript	1		blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	ENSG00000049540	g.chr7:73472022G>A	3327			LOW								--	--	1																																		RFC2_uc011kfa.1_Intron|ELN_uc011kfe.1_Silent_p.Q439Q|ELN_uc003tzn.2_Silent_p.Q470Q|ELN_uc003tzz.2_Intron|ELN_uc003tzo.2_Intron|ELN_uc003tzp.2_Intron|ELN_uc003tzq.2_Intron|ELN_uc003tzr.2_Intron|ELN_uc003tzs.2_Intron|ELN_uc003tzt.2_Silent_p.Q475Q|ELN_uc003tzu.2_Intron|ELN_uc003tzv.2_Intron|ELN_uc003tzx.2_Silent_p.Q460Q|ELN_uc011kff.1_Silent_p.Q470Q|ELN_uc003tzy.2_Intron	1,1				p.Q470Q	NM_000501	NP_001075224			1,1		ELN	HGNC	P15502	ELN_HUMAN			Q9UMK5_HUMAN,F8WAH6_HUMAN		22	1501	+		Lung NSC(55;0.159)	UPI0000D61C6B	499			Ala-rich.		SNV	ELN,synonymous_variant,p.=,ENST00000252034,NM_000501.3,NM_001081755.2,NM_001278915.1;ELN,synonymous_variant,p.=,ENST00000358929,NM_001278939.1;ELN,synonymous_variant,p.=,ENST00000357036,NM_001081754.2;ELN,synonymous_variant,p.=,ENST00000458204,NM_001278917.1;ELN,synonymous_variant,p.=,ENST00000445912,NM_001278912.1;ELN,synonymous_variant,p.=,ENST00000320399,;ELN,synonymous_variant,p.=,ENST00000380562,;ELN,intron_variant,,ENST00000429192,NM_001081753.2;ELN,intron_variant,,ENST00000380584,NM_001278916.1;ELN,intron_variant,,ENST00000414324,NM_001278914.1;ELN,intron_variant,,ENST00000380576,;ELN,intron_variant,,ENST00000380575,NM_001278918.1,NM_001081752.2;ELN,intron_variant,,ENST00000320492,NM_001278913.1;ELN,intron_variant,,ENST00000380553,;CTB-51J22.1,downstream_gene_variant,,ENST00000435932,;ELN,downstream_gene_variant,,ENST00000466878,;ELN,downstream_gene_variant,,ENST00000492210,;	uc003tzw.2	c.1410G>A	1588/3674	2	2			c.1410G>A	T	Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome	PAX5		B-ALL	7	SNP	c.(1408-1410)CAG>CAA	32	32			ovary(3)|pancreas(2)	5	Broad	elastin isoform a precursor		Rofecoxib(DB00533)	73472022		0.612	ENSG00000049540	4986	g.chr7:73472022G>A	blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			434			434	29.834649	KEEP	20	26	-1	44	61	20	26	-1	32.013949	44	61	0.266667	1	0	0	0	0	0	0	1	0	--	--		0	A			RFC2_uc011kfa.1_Intron|ELN_uc011kfe.1_Silent_p.Q439Q|ELN_uc003tzn.2_Silent_p.Q470Q|ELN_uc003tzz.2_Intron|ELN_uc003tzo.2_Intron|ELN_uc003tzp.2_Intron|ELN_uc003tzq.2_Intron|ELN_uc003tzr.2_Intron|ELN_uc003tzs.2_Intron|ELN_uc003tzt.2_Silent_p.Q475Q|ELN_uc003tzu.2_Intron|ELN_uc003tzv.2_Intron|ELN_uc003tzx.2_Silent_p.Q460Q|ELN_uc011kff.1_Silent_p.Q470Q|ELN_uc003tzy.2_Intron	265	GBM-76-4925-TP	p.Q470Q	G	AAGCCGCCCAGTTTGGTAAGT	NM_000501	NP_001075224	73472022	P15502	ELN_HUMAN	0			22	1501	+	A	A		Lung NSC(55;0.159)	Silent	499			Ala-rich.			
ELN	2006		GRCh37	7	73457353	73457353	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000252034.7:c.365G>A	p.Gly122Glu	p.G122E	ENST00000252034	NM_000501.3	122	gGa/gAa	0																																																																																																																																																																																																																																												
ELOVL7	79993	broad.mit.edu	GRCh37	5	60053463	60053463	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01	TCGA-06-2570-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000508821.1:c.509G>A	p.Gly170Glu	p.G170E	ENST00000508821	NM_024930.2	170	gGa/gAa	0			1			T	G/E	uc003jsi.3	protein_coding		CCDS34164.1			509/846										0	c.(508-510)GGA>GAA			Pfam_domain:PF01151,hmmpanther:PTHR11157,hmmpanther:PTHR11157:SF8	elongation of very long chain fatty acids-like				ENSP00000402634		8-Jul									COSM2153112	8-Jul	.		ENST00000425382	Transcript			fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	ENSG00000164181	g.chr5:60053463C>T	26292			MODERATE		2.385	medium	getma.org/?cm=msa&ty=f&p=ELOV7_HUMAN&rb=29&re=269&var=G170E	NA	getma.org/?cm=var&var=hg19,5,60053463,C,T&fts=all	G170E	--	--	1																																		ELOVL7_uc011cqo.1_Missense_Mutation_p.G83E|ELOVL7_uc010iwk.2_Missense_Mutation_p.G170E|ELOVL7_uc003jsj.3_Missense_Mutation_p.G157E	1			probably_damaging(1)	p.G170E	NM_024930	NP_079206		deleterious(0)	1	ELOV7_HUMAN	ELOVL7	HGNC	A1L3X0	ELOV7_HUMAN			D6RBM2_HUMAN		8	709	-		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)	UPI000004CAF4	170					SNV	ELOVL7,missense_variant,p.Gly157Glu,ENST00000505959,;ELOVL7,missense_variant,p.Gly170Glu,ENST00000508821,NM_024930.2;ELOVL7,missense_variant,p.Gly170Glu,ENST00000438340,;ELOVL7,missense_variant,p.Gly170Glu,ENST00000425382,NM_001104558.1;ELOVL7,3_prime_UTR_variant,,ENST00000504455,;	uc003jsi.3	c.509G>A	658/3827	2	2			c.509G>A						5	SNP	c.(508-510)GGA>GAA	17	17				0	Broad	elongation of very long chain fatty acids-like			60053463		0.378	ENSG00000164181	4994	g.chr5:60053463C>T	fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding							86.190131	KEEP	12	20	-1	24	18	12	20	-1	86.461778	24	18	0.430769	1	0	0	0	0	1	0	0	0	--	--		0	T			ELOVL7_uc011cqo.1_Missense_Mutation_p.G83E|ELOVL7_uc010iwk.2_Missense_Mutation_p.G170E|ELOVL7_uc003jsj.3_Missense_Mutation_p.G157E	91	GBM-06-2570-TP	p.G170E	C	ATGGAATGTTCCCAAACCACC	NM_024930	NP_079206	60053463	A1L3X0	ELOV7_HUMAN	0			8	709	-	T	T		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)	Missense_Mutation	170						
ELOVL7	79993		GRCh37	5	60060144	60060144	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000508821.1:c.409C>T	p.Arg137Cys	p.R137C	ENST00000508821	NM_024930.2	137	Cgc/Tgc	0																																																																																																																																																																																																																																												
ELP2	0	broad.mit.edu	GRCh37	18	33740957	33740957	+	stop_gained	Nonsense_Mutation	SNP	C	C	G			TCGA-32-2495-01	TCGA-32-2495-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358232.6:c.1751C>G	p.Ser584Ter	p.S584*	ENST00000358232	NM_018255.2	584	tCa/tGa	0			1			G	S/*	uc002kzk.1	protein_coding		CCDS11918.1			1751/2481									breast(2)|ovary(1)|skin(1)	4	c.(1750-1752)TCA>TGA			Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50294,hmmpanther:PTHR13729,hmmpanther:PTHR13729:SF2,SMART_domains:SM00320,Superfamily_domains:SSF50978	elongator protein 2				ENSP00000350967		17/22									COSM3403531,COSM3403532	17/22	.		ENST00000358232	Transcript			regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		ENSG00000134759	g.chr18:33740957C>G	18248			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,18,33740957,C,G&fts=all	S584*	--	--	1																																		ELP2_uc010xcg.1_Nonsense_Mutation_p.S649*|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Nonsense_Mutation_p.S558*|ELP2_uc010xch.1_Nonsense_Mutation_p.S579*|ELP2_uc002kzn.1_Nonsense_Mutation_p.S514*|ELP2_uc002kzo.1_Nonsense_Mutation_p.S514*	1,1				p.S584*	NM_018255	NP_060725			1,1	ELP2_HUMAN	ELP2	HGNC	Q6IA86	ELP2_HUMAN			F5GX79_HUMAN		17	1761	+			UPI00000730C7	584			WD 10.		SNV	ELP2,stop_gained,p.Ser584Ter,ENST00000358232,NM_018255.2;ELP2,stop_gained,p.Ser649Ter,ENST00000442325,NM_001242875.1;ELP2,stop_gained,p.Ser579Ter,ENST00000350494,NM_001242876.1;ELP2,stop_gained,p.Ser558Ter,ENST00000351393,NM_001242877.1;ELP2,stop_gained,p.Ser514Ter,ENST00000423854,NM_001242879.1;ELP2,stop_gained,p.Ser514Ter,ENST00000542824,NM_001242878.1;ELP2,non_coding_transcript_exon_variant,,ENST00000542050,;ELP2,non_coding_transcript_exon_variant,,ENST00000543861,;ELP2,stop_gained,p.Ser584Ter,ENST00000539560,;ELP2,3_prime_UTR_variant,,ENST00000540799,;ELP2,non_coding_transcript_exon_variant,,ENST00000541294,;ELP2,intron_variant,,ENST00000540766,;	uc002kzk.1	c.1751C>G	1814/5849	5	4			c.1751C>G						18	SNP	c.(1750-1752)TCA>TGA	30	30			breast(2)|ovary(1)|skin(1)	4	Broad	elongator protein 2			33740957		0.363	ENSG00000134759	4995	g.chr18:33740957C>G	regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex								175.481615	KEEP	30	36	-1	88	66	30	36	-1	181.930434	88	66	0.294118	1	0	0	0	0	0	1	0	0	--	--		0	G			ELP2_uc010xcg.1_Nonsense_Mutation_p.S649*|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Nonsense_Mutation_p.S558*|ELP2_uc010xch.1_Nonsense_Mutation_p.S579*|ELP2_uc002kzn.1_Nonsense_Mutation_p.S514*|ELP2_uc002kzo.1_Nonsense_Mutation_p.S514*	237	GBM-32-2495-TP	p.S584*	C	CTGCTTGCCTCAGCTTGTAAG	NM_018255	NP_060725	33740957	Q6IA86	ELP2_HUMAN	0			17	1761	+	G	G			Nonsense_Mutation	584			WD 10.			
ELP3	55140	broad.mit.edu	GRCh37	8	28017799	28017799	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256398.8:c.1311G>A	p.Leu437=	p.L437=	ENST00000256398	NM_018091.5	437	ttG/ttA	0			1			A	L	uc003xgo.3	protein_coding	YES	CCDS6065.1			1311/1644										0	c.(1309-1311)TTG>TTA			PROSITE_profiles:PS51186,hmmpanther:PTHR11135,TIGRFAM_domain:TIGR01211,Gene3D:3.40.630.30,PIRSF_domain:PIRSF005669,Superfamily_domains:SSF55729	elongation protein 3 homolog				ENSP00000256398		13/15									COSM2152156	13/15	.		ENST00000256398	Transcript			regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding	ENSG00000134014	g.chr8:28017799G>A	20696			LOW								--	--	1																																		ELP3_uc003xgn.3_Silent_p.L422L|ELP3_uc011laq.1_Silent_p.L365L|ELP3_uc011lar.1_Silent_p.L345L|ELP3_uc011las.1_Silent_p.L318L|ELP3_uc011lat.1_Silent_p.L318L	1	1			p.L437L	NM_018091	NP_060561			1	ELP3_HUMAN	ELP3	HGNC	Q9H9T3	ELP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)	E5RIZ7_HUMAN,E5RIC0_HUMAN,E5RHY2_HUMAN,E5RHR2_HUMAN,B4DKA4_HUMAN,B4DIG1_HUMAN		13	1459	+		Ovarian(32;0.0218)	UPI000006F0B5	437			N-acetyltransferase.		SNV	ELP3,synonymous_variant,p.=,ENST00000256398,NM_018091.5,NM_001284220.1;ELP3,synonymous_variant,p.=,ENST00000521015,NM_001284220.1,NM_001284222.1;ELP3,synonymous_variant,p.=,ENST00000380353,NM_001284226.1;ELP3,synonymous_variant,p.=,ENST00000542181,;ELP3,synonymous_variant,p.=,ENST00000524103,;ELP3,synonymous_variant,p.=,ENST00000537665,NM_001284224.1,NM_001284225.1;ELP3,synonymous_variant,p.=,ENST00000523357,;ELP3,synonymous_variant,p.=,ENST00000517975,;ELP3,downstream_gene_variant,,ENST00000520110,;ELP3,3_prime_UTR_variant,,ENST00000518112,;ELP3,3_prime_UTR_variant,,ENST00000519261,;ELP3,3_prime_UTR_variant,,ENST00000523687,;	uc003xgo.3	c.1311G>A	1688/3452	1	1			c.1311G>A						8	SNP	c.(1309-1311)TTG>TTA	55	55				0	Broad	elongation protein 3 homolog			28017799		0.383	ENSG00000134014	4996	g.chr8:28017799G>A	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding							90.88946	KEEP	24	18	-1	40	23	24	18	-1	92.323442	40	23	0.363636	1	0	0	0	0	0	0	1	0	--	--		0	A			ELP3_uc003xgn.3_Silent_p.L422L|ELP3_uc011laq.1_Silent_p.L365L|ELP3_uc011lar.1_Silent_p.L345L|ELP3_uc011las.1_Silent_p.L318L|ELP3_uc011lat.1_Silent_p.L318L	73	GBM-06-0877-TP	p.L437L	G	AAACATTCTTGTCATACGAAG	NM_018091	NP_060561	28017799	Q9H9T3	ELP3_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)	13	1459	+	A	A		Ovarian(32;0.0218)	Silent	437			N-acetyltransferase.			
ELP3	0	broad.mit.edu	GRCh37	8	27954764	27954764	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01	TCGA-12-0821-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256398.8:c.48G>A	p.Met16Ile	p.M16I	ENST00000256398	NM_018091.5	16	atG/atA	0			1			A	M/I	uc003xgo.3	protein_coding	YES	CCDS6065.1			48/1644										0	c.(46-48)ATG>ATA			hmmpanther:PTHR11135,PIRSF_domain:PIRSF005669	elongation protein 3 homolog				ENSP00000256398		15-Feb									COSM3412965	15-Feb	.		ENST00000256398	Transcript			regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding	ENSG00000134014	g.chr8:27954764G>A	20696			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=ELP3_HUMAN&rb=1&re=95&var=M16I	NA	getma.org/?cm=var&var=hg19,8,27954764,G,A&fts=all	M16I	--	--	1																																		ELP3_uc003xgn.3_Missense_Mutation_p.M1I|ELP3_uc011laq.1_Intron|ELP3_uc011lar.1_5'UTR|ELP3_uc011las.1_Intron|ELP3_uc011lat.1_5'UTR	1	1		benign(0)	p.M16I	NM_018091	NP_060561		tolerated_low_confidence(0.36)	1	ELP3_HUMAN	ELP3	HGNC	Q9H9T3	ELP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)	E5RIZ7_HUMAN,E5RIC0_HUMAN,E5RHY2_HUMAN,E5RHR2_HUMAN,B4DKA4_HUMAN,B4DIG1_HUMAN		2	196	+		Ovarian(32;0.0218)	UPI000006F0B5	16					SNV	ELP3,missense_variant,p.Met16Ile,ENST00000256398,NM_018091.5,NM_001284220.1;ELP3,missense_variant,p.Met2Ile,ENST00000521015,NM_001284220.1,NM_001284222.1;ELP3,missense_variant,p.Met2Ile,ENST00000521570,;ELP3,missense_variant,p.Met2Ile,ENST00000520288,;ELP3,missense_variant,p.Met2Ile,ENST00000521099,;ELP3,missense_variant,p.Met2Ile,ENST00000520270,;ELP3,5_prime_UTR_variant,,ENST00000380353,NM_001284226.1;ELP3,5_prime_UTR_variant,,ENST00000542181,;ELP3,intron_variant,,ENST00000524103,;ELP3,intron_variant,,ENST00000537665,NM_001284224.1,NM_001284225.1;ELP3,non_coding_transcript_exon_variant,,ENST00000523760,;ELP3,upstream_gene_variant,,ENST00000522063,;ELP3,missense_variant,p.Met16Ile,ENST00000518112,;ELP3,missense_variant,p.Met16Ile,ENST00000523687,;ELP3,non_coding_transcript_exon_variant,,ENST00000521938,;ELP3,intron_variant,,ENST00000519261,;	uc003xgo.3	c.48G>A	425/3452	2	2			c.48G>A						8	SNP	c.(46-48)ATG>ATA	33	33				0	Broad	elongation protein 3 homolog			27954764		0.368	ENSG00000134014	4996	g.chr8:27954764G>A	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding							-69.601258	KEEP	5	0	-1	236	102	5	0	-1	7.038202	236	102	0.017182	1	0	0	0	0	1	0	0	0	--	--		0	A			ELP3_uc003xgn.3_Missense_Mutation_p.M1I|ELP3_uc011laq.1_Intron|ELP3_uc011lar.1_5'UTR|ELP3_uc011las.1_Intron|ELP3_uc011lat.1_5'UTR	123	GBM-12-0821-TP	p.M16I	G	AGCTGATGATGCTGACTATAG	NM_018091	NP_060561	27954764	Q9H9T3	ELP3_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)	2	196	+	A	A		Ovarian(32;0.0218)	Missense_Mutation	16						
ELP4	0	broad.mit.edu	GRCh37	11	31531364	31531364	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-74-6573-01	TCGA-74-6573-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000350638.5:c.33C>G	p.Ala11=	p.A11=	ENST00000350638	NM_019040.3	11	gcC/gcG	0			1			G	A	uc001mtb.2	protein_coding	YES	CCDS7875.2			33/1275									upper_aerodigestive_tract(1)|ovary(1)|prostate(1)	3	c.(31-33)GCC>GCG			Low_complexity_(Seg):seg	elongation protein 4 homolog				ENSP00000298937		10-Jan									COSM3397633,COSM3397634	10-Jan	.		ENST00000350638	Transcript			histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding	ENSG00000109911	g.chr11:31531364C>G	1171			LOW								--	--	1																																		IMMP1L_uc001msy.1_5'Flank|IMMP1L_uc001msz.1_5'Flank|ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Silent_p.A11A|ELP4_uc010rdz.1_Silent_p.A11A|IMMP1L_uc009yjo.2_5'Flank|IMMP1L_uc009yjp.2_5'Flank	1,1	1			p.A11A	NM_019040	NP_061913			1,1	ELP4_HUMAN	ELP4	HGNC	Q96EB1	ELP4_HUMAN			Q9H4R8_HUMAN		1	68	+	Lung SC(675;0.225)		UPI0000074047	11					SNV	ELP4,synonymous_variant,p.=,ENST00000395934,NM_001288726.1;ELP4,synonymous_variant,p.=,ENST00000350638,NM_019040.3;ELP4,synonymous_variant,p.=,ENST00000379163,NM_001288725.1;IMMP1L,upstream_gene_variant,,ENST00000278200,NM_144981.1;IMMP1L,upstream_gene_variant,,ENST00000532287,;IMMP1L,upstream_gene_variant,,ENST00000534812,;IMMP1L,upstream_gene_variant,,ENST00000530023,;IMMP1L,upstream_gene_variant,,ENST00000529749,;IMMP1L,upstream_gene_variant,,ENST00000526776,;IMMP1L,upstream_gene_variant,,ENST00000533642,;IMMP1L,upstream_gene_variant,,ENST00000528161,;IMMP1L,upstream_gene_variant,,ENST00000532624,;IMMP1L,upstream_gene_variant,,ENST00000527184,;IMMP1L,upstream_gene_variant,,ENST00000531693,;IMMP1L,upstream_gene_variant,,ENST00000533921,;ELP4,synonymous_variant,p.=,ENST00000474374,;IMMP1L,upstream_gene_variant,,ENST00000532668,;	uc001mtb.2	c.33C>G	68/1784	3	3			c.33C>G						11	SNP	c.(31-33)GCC>GCG	14	14			upper_aerodigestive_tract(1)|ovary(1)|prostate(1)	3	Broad	elongation protein 4 homolog			31531364		0.587	ENSG00000109911	4997	g.chr11:31531364C>G	histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding							23.689707	KEEP	5	7	-1	22	28	5	7	-1	28.095209	22	28	0.210526	1	0	0	0	0	0	0	1	0	--	--		0	G			IMMP1L_uc001msy.1_5'Flank|IMMP1L_uc001msz.1_5'Flank|ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Silent_p.A11A|ELP4_uc010rdz.1_Silent_p.A11A|IMMP1L_uc009yjo.2_5'Flank|IMMP1L_uc009yjp.2_5'Flank	260	GBM-74-6573-TP	p.A11A	C	GTAGTGTTGCCGCGAGTACTG	NM_019040	NP_061913	31531364	Q96EB1	ELP4_HUMAN	0			1	68	+	G	G	Lung SC(675;0.225)		Silent	11						
ELSPBP1	64100	broad.mit.edu	GRCh37	19	48511941	48511941	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0241-01	TCGA-06-0241-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339841.2:c.17G>C	p.Ser6Thr	p.S6T	ENST00000339841	NM_022142.4	6	aGt/aCt	0			1			C	S/T	uc002pht.2	protein_coding	YES	CCDS12708.1			17/672										0	c.(16-18)AGT>ACT			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR22918:SF5,hmmpanther:PTHR22918	epididymal sperm binding protein 1 precursor				ENSP00000340660		7-Feb									COSM2151168	7-Feb	.		ENST00000339841	Transcript			single fertilization	extracellular region		ENSG00000169393	g.chr19:48511941G>C	14417			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=ESPB1_HUMAN&rb=1&re=58&var=S6T	NA	getma.org/?cm=var&var=hg19,19,48511941,G,C&fts=all	S6T	--	--	1																																			1	1		benign(0.005)	p.S6T	NM_022142	NP_071425		tolerated_low_confidence(0.25)	1	ESPB1_HUMAN	ELSPBP1	HGNC	Q96BH3	ESPB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)	M0QZH6_HUMAN		2	172	+		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)	UPI000013EA82	6					SNV	ELSPBP1,missense_variant,p.Ser6Thr,ENST00000339841,NM_022142.4;ELSPBP1,missense_variant,p.Ser6Thr,ENST00000596043,;ELSPBP1,missense_variant,p.Ser6Thr,ENST00000597519,;	uc002pht.2	c.17G>C	195/1052	3	3			c.17G>C						19	SNP	c.(16-18)AGT>ACT	50	50				0	Broad	epididymal sperm binding protein 1 precursor			48511941		0.468	ENSG00000169393	4998	g.chr19:48511941G>C	single fertilization	extracellular region								84.556289	KEEP	16	12	-1	19	37	16	12	-1	85.603852	19	37	0.367647	1	0	0	0	0	1	0	0	0	--	--		0	C				57	GBM-06-0241-TP	p.S6T	G	CGATGGTCCAGTTACCTGTTG	NM_022142	NP_071425	48511941	Q96BH3	ESPB1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)	2	172	+	C	C		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)	Missense_Mutation	6						
ELSPBP1	0	broad.mit.edu	GRCh37	19	48519291	48519291	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs145971035		TCGA-41-3393-01	TCGA-41-3393-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339841.2:c.350C>T	p.Thr117Met	p.T117M	ENST00000339841	NM_022142.4	117	aCg/aTg	0	T:0.0005		1			T	T/M	uc002pht.2	protein_coding	YES	CCDS12708.1			350/672										0	c.(349-351)ACG>ATG			PROSITE_profiles:PS51092,hmmpanther:PTHR22918:SF5,hmmpanther:PTHR22918,Gene3D:2.10.10.10,Superfamily_domains:SSF57440	epididymal sperm binding protein 1 precursor			T:0.0001	ENSP00000340660		7-Apr	5.77E-05	0.000192	0.000173			4.50E-05			rs145971035,COSM3404423	7-Apr	.		ENST00000339841	Transcript			single fertilization	extracellular region		ENSG00000169393	g.chr19:48519291C>T	14417			MODERATE		2.14	medium	getma.org/?cm=msa&ty=f&p=ESPB1_HUMAN&rb=69&re=117&var=T117M	NA	getma.org/?cm=var&var=hg19,19,48519291,C,T&fts=all	T117M	--	--	1																																			0,1	1		benign(0.006)	p.T117M	NM_022142	NP_071425		tolerated(0.18)	0,1	ESPB1_HUMAN	ELSPBP1	HGNC	Q96BH3	ESPB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)	M0QZH6_HUMAN		4	505	+		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)	UPI000013EA82	117			Fibronectin type-II 2.		SNV	ELSPBP1,missense_variant,p.Thr117Met,ENST00000339841,NM_022142.4;ELSPBP1,missense_variant,p.Thr48Met,ENST00000593782,;ELSPBP1,missense_variant,p.Thr71Met,ENST00000596043,;ELSPBP1,intron_variant,,ENST00000597519,;ELSPBP1,upstream_gene_variant,,ENST00000593413,;	uc002pht.2	c.350C>T	528/1052	2	2			c.350C>T						19	SNP	c.(349-351)ACG>ATG	32	32				0	Broad	epididymal sperm binding protein 1 precursor			48519291		0.552	ENSG00000169393	4998	g.chr19:48519291C>T	single fertilization	extracellular region								87.948672	KEEP	17	27	-1	79	83	17	27	-1	102.23948	79	83	0.208791	1	0	0	0	0	1	0	0	0	--	--		0	T				255	GBM-41-3393-TP	p.T117M	C	TTCTGTGAAACGAATGGTGAG	NM_022142	NP_071425	48519291	Q96BH3	ESPB1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)	4	505	+	T	T		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)	Missense_Mutation	117			Fibronectin type-II 2.			
ELTD1	0	broad.mit.edu	GRCh37	1	79403509	79403509	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0192-01	TCGA-06-0192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370742.3:c.743C>A	p.Thr248Lys	p.T248K	ENST00000370742	NM_022159.3	248	aCa/aAa	0			1			T	T/K	uc001diq.3	protein_coding	YES	CCDS41352.1			743/2073									ovary(1)|skin(1)	2	c.(742-744)ACA>AAA			hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF59,Pfam_domain:PF12003	EGF, latrophilin and seven transmembrane domain				ENSP00000359778		15-Jun									COSM2150677	15-Jun	.		ENST00000370742	Transcript			neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	ENSG00000162618	g.chr1:79403509G>T	20822			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=ELTD1_HUMAN&rb=130&re=343&var=T248K	NA	getma.org/?cm=var&var=hg19,1,79403509,G,T&fts=all	T248K	--	--	1																																			1	1		benign(0.148)	p.T248K	NM_022159	NP_071442		tolerated(0.11)	1	ELTD1_HUMAN	ELTD1	HGNC	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)			6	899	-			UPI00004561FF	248			Extracellular (Potential).		SNV	ELTD1,missense_variant,p.Thr248Lys,ENST00000370742,NM_022159.3;	uc001diq.3	c.743C>A	807/3527	2	2			c.743C>A						1	SNP	c.(742-744)ACA>AAA	36	36			ovary(1)|skin(1)	2	Broad	EGF, latrophilin and seven transmembrane domain			79403509		0.378	ENSG00000162618	4999	g.chr1:79403509G>T	neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity							172.417523	KEEP	48	24	0.666666667	112	80	48	24	0.666666667	183.013547	112	80	0.273913	1	0	0	0	0	1	0	0	0	--	--		0	T				44	GBM-06-0192-TP	p.T248K	G	CGTTGAATTTGTATCAAACTC	NM_022159	NP_071442	79403509	Q9HBW9	ELTD1_HUMAN	0		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	6	899	-	T	T			Missense_Mutation	248			Extracellular (Potential).			
ELTD1	0	broad.mit.edu	GRCh37	1	79412033	79412033	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0747-01	TCGA-06-0747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370742.3:c.251G>C	p.Cys84Ser	p.C84S	ENST00000370742	NM_022159.3	84	tGt/tCt	0			1			G	C/S	uc001diq.3	protein_coding	YES	CCDS41352.1			251/2073									ovary(1)|skin(1)	2	c.(250-252)TGT>TCT			PROSITE_profiles:PS50026,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF59,PROSITE_patterns:PS00010,PROSITE_patterns:PS01187,Pfam_domain:PF07645,Gene3D:2.40.155.10,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57196	EGF, latrophilin and seven transmembrane domain				ENSP00000359778		15-Mar									COSM2151786	15-Mar	.		ENST00000370742	Transcript			neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	ENSG00000162618	g.chr1:79412033C>G	20822			MODERATE		3.73	high	getma.org/?cm=msa&ty=f&p=ELTD1_HUMAN&rb=58&re=107&var=C84S	getma.org/pdb.php?prot=ELTD1_HUMAN&from=58&to=107&var=C84S	getma.org/?cm=var&var=hg19,1,79412033,C,G&fts=all	C84S	--	--	1																																			1	1		probably_damaging(1)	p.C84S	NM_022159	NP_071442		deleterious_low_confidence(0)	1	ELTD1_HUMAN	ELTD1	HGNC	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)			3	407	-			UPI00004561FF	84			Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).		SNV	ELTD1,missense_variant,p.Cys84Ser,ENST00000370742,NM_022159.3;	uc001diq.3	c.251G>C	315/3527	3	3			c.251G>C						1	SNP	c.(250-252)TGT>TCT	16	16			ovary(1)|skin(1)	2	Broad	EGF, latrophilin and seven transmembrane domain			79412033		0.363	ENSG00000162618	4999	g.chr1:79412033C>G	neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity							76.681635	KEEP	12	11	-1	11	11	12	11	-1	76.681635	11	11	0.5	1	0	0	0	0	1	0	0	0	--	--		0	G				68	GBM-06-0747-TP	p.C84S	C	TACACACATACAATAATAACT	NM_022159	NP_071442	79412033	Q9HBW9	ELTD1_HUMAN	0		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	3	407	-	G	G			Missense_Mutation	84			Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).			
ELTD1	0	broad.mit.edu	GRCh37	1	79392712	79392712	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-6388-01	TCGA-06-6388-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370742.3:c.942C>A	p.Asn314Lys	p.N314K	ENST00000370742	NM_022159.3	314	aaC/aaA	0			1			T	N/K	uc001diq.3	protein_coding	YES	CCDS41352.1			942/2073									ovary(1)|skin(1)	2	c.(940-942)AAC>AAA			hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF59,Pfam_domain:PF12003	EGF, latrophilin and seven transmembrane domain				ENSP00000359778		15-Aug									COSM3401028	15-Aug	.		ENST00000370742	Transcript			neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	ENSG00000162618	g.chr1:79392712G>T	20822			MODERATE		0.755	neutral	getma.org/?cm=msa&ty=f&p=ELTD1_HUMAN&rb=130&re=343&var=N314K	NA	getma.org/?cm=var&var=hg19,1,79392712,G,T&fts=all	N314K	--	--	1																																			1	1		benign(0.021)	p.N314K	NM_022159	NP_071442		tolerated(0.1)	1	ELTD1_HUMAN	ELTD1	HGNC	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)			8	1098	-			UPI00004561FF	314			Extracellular (Potential).		SNV	ELTD1,missense_variant,p.Asn314Lys,ENST00000370742,NM_022159.3;	uc001diq.3	c.942C>A	1006/3527	2	2			c.942C>A						1	SNP	c.(940-942)AAC>AAA	48	48			ovary(1)|skin(1)	2	Broad	EGF, latrophilin and seven transmembrane domain			79392712		0.318	ENSG00000162618	4999	g.chr1:79392712G>T	neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity							-4.723472	KEEP	0	4	-1	25	35	0	4	-1	6.777709	25	35	0.054545	1	0	0	0	0	1	0	0	0	--	--		0	T				104	GBM-06-6388-TP	p.N314K	G	TCAATAAGAAGTTGTCAGATG	NM_022159	NP_071442	79392712	Q9HBW9	ELTD1_HUMAN	0		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	8	1098	-	T	T			Missense_Mutation	314			Extracellular (Potential).			
ELTD1	0	broad.mit.edu	GRCh37	1	79383365	79383365	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-27-2518-01	TCGA-27-2518-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370742.3:c.1703A>G	p.Asn568Ser	p.N568S	ENST00000370742	NM_022159.3	568	aAc/aGc	0			1			C	N/S	uc001diq.3	protein_coding	YES	CCDS41352.1			1703/2073									ovary(1)|skin(1)	2	c.(1702-1704)AAC>AGC			PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF59,Pfam_domain:PF00002	EGF, latrophilin and seven transmembrane domain				ENSP00000359778		15-Dec									COSM3401026,COSM3401027	15-Dec	.		ENST00000370742	Transcript			neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	ENSG00000162618	g.chr1:79383365T>C	20822			MODERATE		1.335	low	getma.org/?cm=msa&ty=f&p=ELTD1_HUMAN&rb=424&re=660&var=N568S	NA	getma.org/?cm=var&var=hg19,1,79383365,T,C&fts=all	N568S	--	--	1																																			1,1	1		probably_damaging(0.999)	p.N568S	NM_022159	NP_071442		deleterious(0.01)	1,1	ELTD1_HUMAN	ELTD1	HGNC	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)			12	1859	-			UPI00004561FF	568			Extracellular (Potential).		SNV	ELTD1,missense_variant,p.Asn568Ser,ENST00000370742,NM_022159.3;ELTD1,missense_variant,p.Asn26Ser,ENST00000401034,;	uc001diq.3	c.1703A>G	1767/3527	3	3			c.1703A>G						1	SNP	c.(1702-1704)AAC>AGC	15	15			ovary(1)|skin(1)	2	Broad	EGF, latrophilin and seven transmembrane domain			79383365		0.279	ENSG00000162618	4999	g.chr1:79383365T>C	neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity							15.154241	KEEP	6	2	-1	36	30	6	2	-1	24.67647	36	30	0.119403	1	0	0	0	0	1	0	0	0	--	--		0	C				198	GBM-27-2518-TP	p.N568S	T	AATAAAGTTGTTTTCGGTGCT	NM_022159	NP_071442	79383365	Q9HBW9	ELTD1_HUMAN	0		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	12	1859	-	C	C			Missense_Mutation	568			Extracellular (Potential).			
ELTD1	0	broad.mit.edu	GRCh37	1	79404873	79404873	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A			TCGA-76-6192-01	TCGA-76-6192-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370742.3:c.396A>T	p.Lys132Asn	p.K132N	ENST00000370742	NM_022159.3	132	aaA/aaT	0			1			A	K/N	uc001diq.3	protein_coding	YES	CCDS41352.1			396/2073									ovary(1)|skin(1)	2	c.(394-396)AAA>AAT			hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF59,Pfam_domain:PF12003,Gene3D:2.40.155.10	EGF, latrophilin and seven transmembrane domain				ENSP00000359778		15-Apr									COSM3401029	15-Apr	.		ENST00000370742	Transcript			neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	ENSG00000162618	g.chr1:79404873T>A	20822			MODERATE		0.755	neutral	getma.org/?cm=msa&ty=f&p=ELTD1_HUMAN&rb=130&re=343&var=K132N	NA	getma.org/?cm=var&var=hg19,1,79404873,T,A&fts=all	K132N	--	--	1																																			1	1		benign(0.014)	p.K132N	NM_022159	NP_071442		tolerated(0.11)	1	ELTD1_HUMAN	ELTD1	HGNC	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)			4	552	-			UPI00004561FF	132			Extracellular (Potential).		SNV	ELTD1,missense_variant,p.Lys132Asn,ENST00000370742,NM_022159.3;	uc001diq.3	c.396A>T	460/3527	2	2			c.396A>T						1	SNP	c.(394-396)AAA>AAT	26	26			ovary(1)|skin(1)	2	Broad	EGF, latrophilin and seven transmembrane domain			79404873		0.254	ENSG00000162618	4999	g.chr1:79404873T>A	neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity							20.515972	KEEP	5	4	-1	6	12	5	4	-1	21.301693	6	12	0.304348	1	0	0	0	0	1	0	0	0	--	--		0	A				275	GBM-76-6192-TP	p.K132N	T	TTCTACTTACTTTTGTTAAAG	NM_022159	NP_071442	79404873	Q9HBW9	ELTD1_HUMAN	0		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	4	552	-	A	A			Missense_Mutation	132			Extracellular (Potential).			
EMC1	0	broad.mit.edu	GRCh37	1	19546124	19546124	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-14-1823-01	TCGA-14-1823-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000477853.1:c.2741A>G	p.Gln914Arg	p.Q914R	ENST00000477853	NM_001271427.1	914	cAg/cGg	0			1			C	Q/R	uc001bbo.2	protein_coding	YES	CCDS190.1			2741/2982									ovary(1)	1	c.(2740-2742)CAG>CGG			Pfam_domain:PF07774,hmmpanther:PTHR21573,hmmpanther:PTHR21573:SF0	hypothetical protein LOC23065 precursor				ENSP00000420608		22/23									COSM3400139	22/23	.		ENST00000477853	Transcript				integral to membrane	protein binding	ENSG00000127463	g.chr1:19546124T>C	28957			MODERATE		0.86	low	getma.org/?cm=msa&ty=f&p=K0090_HUMAN&rb=786&re=992&var=Q914R	NA	getma.org/?cm=var&var=hg19,1,19546124,T,C&fts=all	Q914R	--	--	1																																		KIAA0090_uc001bbn.2_RNA|KIAA0090_uc001bbp.2_Missense_Mutation_p.Q913R|KIAA0090_uc001bbq.2_Missense_Mutation_p.Q913R|KIAA0090_uc001bbr.2_Missense_Mutation_p.Q892R	1	1		possibly_damaging(0.888)	p.Q914R	NM_015047	NP_055862		deleterious(0.02)	1	EMC1_HUMAN	EMC1	HGNC	Q8N766	K0090_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)			22	2784	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)	UPI0000070A23	914			DUF1620.|Extracellular (Potential).		SNV	EMC1,missense_variant,p.Gln914Arg,ENST00000477853,NM_001271427.1,NM_001271428.1,NM_015047.2;EMC1,missense_variant,p.Gln913Arg,ENST00000375199,;EMC1,missense_variant,p.Gln892Arg,ENST00000375208,NM_001271429.1;EMC1,missense_variant,p.Arg137Gly,ENST00000486405,;RP1-43E13.2,intron_variant,,ENST00000437898,;EMC1,non_coding_transcript_exon_variant,,ENST00000480380,;EMC1,non_coding_transcript_exon_variant,,ENST00000461353,;EMC1,non_coding_transcript_exon_variant,,ENST00000494770,;EMC1,downstream_gene_variant,,ENST00000496654,;EMC1,3_prime_UTR_variant,,ENST00000486238,;EMC1,non_coding_transcript_exon_variant,,ENST00000462505,;	uc001bbo.2	c.2741A>G	2784/6664	4	4			c.2741A>G						1	SNP	c.(2740-2742)CAG>CGG	48	48			ovary(1)	1	Broad	hypothetical protein LOC23065 precursor			19546124		0.507	ENSG00000127463	8014	g.chr1:19546124T>C		integral to membrane	protein binding	GBM(4;72 124 25802 30195)			GBM(4;72 124 25802 30195)			-18.475153	KEEP	3	3	-1	86	57	3	3	-1	13.193067	86	57	0.042553	1	0	0	0	0	1	0	0	0	--	--		0	C			KIAA0090_uc001bbn.2_RNA|KIAA0090_uc001bbp.2_Missense_Mutation_p.Q913R|KIAA0090_uc001bbq.2_Missense_Mutation_p.Q913R|KIAA0090_uc001bbr.2_Missense_Mutation_p.Q892R	147	GBM-14-1823-TP	p.Q914R	T	AGAAACTGTCTGGTTATAGTT	NM_015047	NP_055862	19546124	Q8N766	K0090_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)	22	2784	-	C	C		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)	Missense_Mutation	914			DUF1620.|Extracellular (Potential).			
EMC1	23065		GRCh37	1	19557342	19557342	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000477853.1:c.2060G>A	p.Arg687Gln	p.R687Q	ENST00000477853	NM_001271427.1	687	cGa/cAa	0																																																																																																																																																																																																																																												
EMID1	129080		GRCh37	22	29621149	29621149	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000334018.6:c.347C>T	p.Pro116Leu	p.P116L	ENST00000334018	NM_001267895.1	116	cCc/cTc	0																																																																																																																																																																																																																																												
EMILIN1	11117	broad.mit.edu	GRCh37	2	27303034	27303034	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380320.4:c.186C>T	p.Tyr62=	p.Y62=	ENST00000380320	NM_007046.3	62	taC/taT	0	T:0	T:0	1	T:0		T	Y	uc002rii.3	protein_coding	YES	CCDS1733.1			186/3051									pancreas(1)	1	c.(184-186)TAC>TAT			Pfam_domain:PF07546,PROSITE_profiles:PS51041,hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF1	elastin microfibril interfacer 1 precursor		T:0	T:0.0001	ENSP00000369677	T:0.001	8-Feb	0.000165		0.000432			0.000225			rs373206233,COSM2149118	8-Feb	common_variant		ENST00000380320	Transcript		T:0.0002	cell adhesion	collagen		ENSG00000138080	g.chr2:27303034C>T	19880			LOW								--	--	1																																		EMILIN1_uc010eyq.1_Silent_p.Y62Y	0,1	1			p.Y62Y	NM_007046	NP_008977	T:0		0,1	EMIL1_HUMAN	EMILIN1	HGNC	Q9Y6C2	EMIL1_HUMAN					2	614	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		UPI000013D0F3	62			EMI.		SNV	EMILIN1,synonymous_variant,p.=,ENST00000380320,NM_007046.3;EMILIN1,upstream_gene_variant,,ENST00000433140,;	uc002rii.3	c.186C>T	685/3938	2	2			c.186C>T						2	SNP	c.(184-186)TAC>TAT	35	35			pancreas(1)	1	Broad	elastin microfibril interfacer 1 precursor			27303034		0.592	ENSG00000138080	5008	g.chr2:27303034C>T	cell adhesion	collagen								91.603955	KEEP	20	19	-1	52	67	20	19	-1	99.837535	52	67	0.251701	1	0	0	0	0	0	0	1	0	--	--		0	T			EMILIN1_uc010eyq.1_Silent_p.Y62Y	5	GBM-02-2470-TP	p.Y62Y	C	GGTGTGCCTACGTGGTGACCC	NM_007046	NP_008977	27303034	Q9Y6C2	EMIL1_HUMAN	0			2	614	+	T	T	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Silent	62			EMI.			
EMILIN1	11117		GRCh37	2	27306136	27306136	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000380320.4:c.1697G>C	p.Arg566Pro	p.R566P	ENST00000380320	NM_007046.3	566	cGg/cCg	0																																																																																																																																																																																																																																												
EMILIN2	0	broad.mit.edu	GRCh37	18	2847912	2847912	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-1825-01	TCGA-14-1825-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254528.3:c.240C>T	p.Pro80=	p.P80=	ENST00000254528	NM_032048.2	80	ccC/ccT	0			1			T	P	uc002kln.2	protein_coding	YES	CCDS11828.1			240/3162									skin(2)|ovary(1)	3	c.(238-240)CCC>CCT			PROSITE_profiles:PS51041,hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF5,Pfam_domain:PF07546	elastin microfibril interfacer 2 precursor				ENSP00000254528		8-Feb									COSM3403493	8-Feb	.		ENST00000254528	Transcript			cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	ENSG00000132205	g.chr18:2847912C>T	19881			LOW								--	--	1																																			1	1			p.P80P	NM_032048	NP_114437			1	EMIL2_HUMAN	EMILIN2	HGNC	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)			2	399	+			UPI000013CE3E	80			EMI.		SNV	EMILIN2,synonymous_variant,p.=,ENST00000254528,NM_032048.2;	uc002kln.2	c.240C>T	399/5910	1	1			c.240C>T						18	SNP	c.(238-240)CCC>CCT	5	5			skin(2)|ovary(1)	3	Broad	elastin microfibril interfacer 2 precursor			2847912		0.483	ENSG00000132205	5009	g.chr18:2847912C>T	cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding							46.244105	KEEP	14	4	-1	16	19	14	4	-1	47.150554	16	19	0.354167	1	0	0	0	0	0	0	1	0	--	--		0	T				148	GBM-14-1825-TP	p.P80P	C	ACCAGATGCCCTGTCCGTCGG	NM_032048	NP_114437	2847912	Q9BXX0	EMIL2_HUMAN	0		READ - Rectum adenocarcinoma(2;0.1)	2	399	+	T	T			Silent	80			EMI.			
EMILIN2	84034		GRCh37	18	2892201	2892201	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000254528.3:c.2076G>A	p.Thr692=	p.T692=	ENST00000254528	NM_032048.2	692	acG/acA	0																																																																																																																																																																																																																																												
EMILIN3	0	broad.mit.edu	GRCh37	20	39990117	39990119	+	inframe_deletion	In_Frame_Del	DEL	CCT	CCT	-			TCGA-19-5954-01	TCGA-19-5954-01	CCT	CCT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332312.3:c.2090_2092delAGG	p.Glu697del	p.E697del	ENST00000332312	NM_052846.1	697	gAGGgt/ggt	0			1			-	EG/G	uc002xjy.1	protein_coding	YES	CCDS13316.1			2090-2092/2301									ovary(1)	1	c.(2089-2094)GAGGGT>GGT			hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF2	elastin microfibril interfacer 3				ENSP00000332806		4-Apr										4-Apr	.		ENST00000332312	Transcript				proteinaceous extracellular matrix		ENSG00000183798	g.chr20:39990117_39990119delCCT	16123			MODERATE								--	--	1																																				1			p.E697del	NM_052846	NP_443078				EMIL3_HUMAN	EMILIN3	HGNC	Q9NT22	EMIL3_HUMAN			Q495S5_HUMAN		4	2314_2316	-		Myeloproliferative disorder(115;0.00425)	UPI00001D82E8	697					deletion	EMILIN3,inframe_deletion,p.Glu697del,ENST00000332312,NM_052846.1;LPIN3,downstream_gene_variant,,ENST00000373257,NM_022896.1;LPIN3,downstream_gene_variant,,ENST00000445975,;LPIN3,downstream_gene_variant,,ENST00000491528,;LPIN3,downstream_gene_variant,,ENST00000496565,;	uc002xjy.1	c.2090_2092delAGG	2283-2285/3796	5	5			c.2090_2092delAGG						20	DEL	c.(2089-2094)GAGGGT>GGT	18	18			ovary(1)	1	Broad	elastin microfibril interfacer 3			39990119		0.665	ENSG00000183798	5010	g.chr20:39990117_39990119delCCT		proteinaceous extracellular matrix																					0.31	1	1	0	1	0	0	0	0	0	--	--		0	-				174	GBM-19-5954-TP	p.E697del	CCT	CTGCACGCACCCTCCACTTGTGC	NM_052846	NP_443078	39990117	Q9NT22	EMIL3_HUMAN	0			4	2314_2316	-	-	-		Myeloproliferative disorder(115;0.00425)	In_Frame_Del	697						
EML1	0	broad.mit.edu	GRCh37	14	100363508	100363508	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01	TCGA-27-2519-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262233.6:c.704G>A	p.Arg235His	p.R235H	ENST00000262233	NM_004434.2	235	cGt/cAt	0			1			A	R/H	uc001ygs.2	protein_coding		CCDS32155.1			704/2448									large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5	c.(703-705)CGT>CAT			Pfam_domain:PF03451,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF22,Superfamily_domains:SSF50998	echinoderm microtubule associated protein like 1				ENSP00000262233		22-Jul									COSM3401113	22-Jul	.		ENST00000262233	Transcript				cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	ENSG00000066629	g.chr14:100363508G>A	3330			MODERATE		3.1	medium	getma.org/?cm=msa&ty=f&p=EMAL1_HUMAN&rb=183&re=260&var=R235H	NA	getma.org/?cm=var&var=hg19,14,100363508,G,A&fts=all	R235H	--	--	1																																		EML1_uc010avt.1_Missense_Mutation_p.R222H|EML1_uc010tww.1_Missense_Mutation_p.R223H|EML1_uc001ygq.2_Missense_Mutation_p.R254H|EML1_uc001ygr.2_Missense_Mutation_p.R254H	1			probably_damaging(0.922)	p.R235H	NM_004434	NP_004425		deleterious(0)	1	EMAL1_HUMAN	EML1	HGNC	O00423	EMAL1_HUMAN			G3V500_HUMAN,G3V4U5_HUMAN,G3V497_HUMAN		7	773	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	UPI000013D278	235					SNV	EML1,missense_variant,p.Arg235His,ENST00000262233,NM_004434.2;EML1,missense_variant,p.Arg254His,ENST00000334192,NM_001008707.1;EML1,missense_variant,p.Arg223His,ENST00000327921,;EML1,missense_variant,p.Arg222His,ENST00000554479,;EML1,missense_variant,p.Arg204His,ENST00000556714,;EML1,upstream_gene_variant,,ENST00000554386,;EML1,upstream_gene_variant,,ENST00000555812,;EML1,non_coding_transcript_exon_variant,,ENST00000555277,;EML1,upstream_gene_variant,,ENST00000554553,;	uc001ygs.2	c.704G>A	843/4535	1	1			c.704G>A						14	SNP	c.(703-705)CGT>CAT	64	64			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5	Broad	echinoderm microtubule associated protein like 1			100363508		0.468	ENSG00000066629	5011	g.chr14:100363508G>A		cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding							108.489427	KEEP	16	24	-1	39	23	16	24	-1	108.806699	39	23	0.433735	1	0	0	0	0	1	0	0	0	--	--		0	A			EML1_uc010avt.1_Missense_Mutation_p.R222H|EML1_uc010tww.1_Missense_Mutation_p.R223H|EML1_uc001ygq.2_Missense_Mutation_p.R254H|EML1_uc001ygr.2_Missense_Mutation_p.R254H	199	GBM-27-2519-TP	p.R235H	G	CGAGACTGCCGTAACAACCTG	NM_004434	NP_004425	100363508	O00423	EMAL1_HUMAN	0			7	773	+	A	A		Melanoma(154;0.0879)|all_epithelial(191;0.216)	Missense_Mutation	235						
EML2	0	broad.mit.edu	GRCh37	19	46112931	46112931	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01	TCGA-19-2620-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245925.3:c.1940G>A	p.Arg647Gln	p.R647Q	ENST00000245925	NM_012155.2	647	cGg/cAg	0		T:0	1	T:0		T	R/Q	uc002pcn.2	protein_coding		CCDS12670.1			1940/1950									large_intestine(1)|ovary(1)	2	c.(1939-1941)CGG>CAG			PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR13720:SF22,hmmpanther:PTHR13720,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	echinoderm microtubule associated protein like		T:0.001		ENSP00000245925	T:0	19/19	0.000181					1.50E-05		0.00127	rs190700619,COSM3404389	19/19	common_variant		ENST00000245925	Transcript		T:0.0012	sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	ENSG00000125746	g.chr19:46112931C>T	18035			MODERATE		1.9	medium	getma.org/?cm=msa&ty=f&p=EMAL2_HUMAN&rb=535&re=649&var=R647Q	NA	getma.org/?cm=var&var=hg19,19,46112931,C,T&fts=all	R647Q	--	--	1																																		EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Missense_Mutation_p.R531Q|EML2_uc010xxl.1_Missense_Mutation_p.R794Q|EML2_uc010xxm.1_Missense_Mutation_p.R848Q	0,1			benign(0.293)	p.R647Q	NM_012155	NP_036287	T:0.0051	tolerated(0.07)	0,1	EMAL2_HUMAN	EML2	HGNC	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	K7ERY9_HUMAN,K7ERR2_HUMAN,K7EQR0_HUMAN,K7EKU5_HUMAN,K7EIM1_HUMAN		19	1975	-		Ovarian(192;0.179)|all_neural(266;0.224)	UPI0000129EA3	647			WD 11.		SNV	EML2,missense_variant,p.Arg794Gln,ENST00000536630,NM_001193269.1;EML2,missense_variant,p.Arg848Gln,ENST00000587152,NM_001193268.1;EML2,missense_variant,p.Arg647Gln,ENST00000245925,NM_012155.2;EML2,intron_variant,,ENST00000589876,;EML2,3_prime_UTR_variant,,ENST00000588308,;EML2,3_prime_UTR_variant,,ENST00000586195,;EML2,non_coding_transcript_exon_variant,,ENST00000592433,;EML2,downstream_gene_variant,,ENST00000586405,;	uc002pcn.2	c.1940G>A	1991/2264	2	2			c.1940G>A						19	SNP	c.(1939-1941)CGG>CAG	17	17			large_intestine(1)|ovary(1)	2	Broad	echinoderm microtubule associated protein like			46112931		0.537	ENSG00000125746	5012	g.chr19:46112931C>T	sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding							62.816475	KEEP	19	10	-1	39	28	19	10	-1	66.303573	39	28	0.278481	1	0	0	0	0	1	0	0	0	--	--		0	T			EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Missense_Mutation_p.R531Q|EML2_uc010xxl.1_Missense_Mutation_p.R794Q|EML2_uc010xxm.1_Missense_Mutation_p.R848Q	162	GBM-19-2620-TP	p.R647Q	C	TCAGACCACCCGCCACTGTAG	NM_012155	NP_036287	46112931	O95834	EMAL2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	19	1975	-	T	T		Ovarian(192;0.179)|all_neural(266;0.224)	Missense_Mutation	647			WD 11.			
EML2	0	broad.mit.edu	GRCh37	19	46124852	46124852	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-2527-01	TCGA-27-2527-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245925.3:c.885C>T	p.Gly295=	p.G295=	ENST00000245925	NM_012155.2	295	ggC/ggT	0			1			A	G	uc002pcn.2	protein_coding		CCDS12670.1			885/1950									large_intestine(1)|ovary(1)	2	c.(883-885)GGC>GGT			PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR13720:SF22,hmmpanther:PTHR13720,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50998	echinoderm microtubule associated protein like				ENSP00000245925		19-Oct	2.47E-05			0.000118	0.000168	1.55E-05			rs779678338,COSM3404391	19-Oct	.		ENST00000245925	Transcript			sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	ENSG00000125746	g.chr19:46124852G>A	18035			LOW								--	--	1																																		EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Silent_p.G179G|EML2_uc010xxl.1_Silent_p.G442G|EML2_uc010xxm.1_Silent_p.G496G|EML2_uc010xxn.1_RNA|EML2_uc010xxo.1_Silent_p.G295G|EML2_uc010ekj.2_Missense_Mutation_p.A262V	0,1				p.G295G	NM_012155	NP_036287			0,1	EMAL2_HUMAN	EML2	HGNC	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	K7ERY9_HUMAN,K7ERR2_HUMAN,K7EQR0_HUMAN,K7EKU5_HUMAN,K7EIM1_HUMAN		10	920	-		Ovarian(192;0.179)|all_neural(266;0.224)	UPI0000129EA3	295			WD 5.		SNV	EML2,synonymous_variant,p.=,ENST00000536630,NM_001193269.1;EML2,synonymous_variant,p.=,ENST00000587152,NM_001193268.1;EML2,synonymous_variant,p.=,ENST00000589876,;EML2,synonymous_variant,p.=,ENST00000245925,NM_012155.2;EML2,synonymous_variant,p.=,ENST00000588496,;EML2,synonymous_variant,p.=,ENST00000590575,;EML2,intron_variant,,ENST00000588272,;EML2,upstream_gene_variant,,ENST00000587484,;EML2,non_coding_transcript_exon_variant,,ENST00000586902,;EML2,downstream_gene_variant,,ENST00000590580,;EML2,synonymous_variant,p.=,ENST00000399594,;EML2,synonymous_variant,p.=,ENST00000588308,;EML2,3_prime_UTR_variant,,ENST00000586195,;EML2,non_coding_transcript_exon_variant,,ENST00000588000,;EML2,non_coding_transcript_exon_variant,,ENST00000588610,;EML2,intron_variant,,ENST00000590819,;EML2,upstream_gene_variant,,ENST00000592482,;EML2,downstream_gene_variant,,ENST00000592853,;	uc002pcn.2	c.885C>T	936/2264	1	1			c.885C>T						19	SNP	c.(883-885)GGC>GGT	59	59			large_intestine(1)|ovary(1)	2	Broad	echinoderm microtubule associated protein like			46124852		0.687	ENSG00000125746	5012	g.chr19:46124852G>A	sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding							16.673853	KEEP	2	7	-1	22	19	2	7	-1	20.858424	22	19	0.181818	1	0	0	0	0	0	0	1	0	--	--		0	A			EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Silent_p.G179G|EML2_uc010xxl.1_Silent_p.G442G|EML2_uc010xxm.1_Silent_p.G496G|EML2_uc010xxn.1_RNA|EML2_uc010xxo.1_Silent_p.G295G|EML2_uc010ekj.2_Missense_Mutation_p.A262V	204	GBM-27-2527-TP	p.G295G	G	CAAACACGCCGCCGTCGTGGG	NM_012155	NP_036287	46124852	O95834	EMAL2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	10	920	-	A	A		Ovarian(192;0.179)|all_neural(266;0.224)	Silent	295			WD 5.			
EML3	0	broad.mit.edu	GRCh37	11	62378668	62378668	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-32-2491-01	TCGA-32-2491-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394773.2:c.343G>T	p.Glu115Ter	p.E115*	ENST00000394773	NM_153265.2	115	Gag/Tag	0			1			A	E/*	uc001ntu.1	protein_coding	YES	CCDS8023.2			343/2691									ovary(1)	1	c.(343-345)GAG>TAG			Low_complexity_(Seg):seg,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF15	echinoderm microtubule associated protein like				ENSP00000378254		22-Mar									COSM3397989,COSM3397990	22-Mar	.		ENST00000394773	Transcript				cytoplasm|microtubule	protein binding	ENSG00000149499	g.chr11:62378668C>A	26666			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,11,62378668,C,A&fts=all	E115*	--	--	1																																		EML3_uc001ntr.1_Nonsense_Mutation_p.E87*|EML3_uc001nts.1_Nonsense_Mutation_p.E87*|EML3_uc001ntt.1_Missense_Mutation_p.K11N|EML3_uc010rly.1_Nonsense_Mutation_p.E115*|EML3_uc009yny.1_5'UTR|ROM1_uc001ntv.2_5'Flank	1,1	1			p.E115*	NM_153265	NP_694997			1,1	EMAL3_HUMAN	EML3	HGNC	Q32P44	EMAL3_HUMAN			G3V195_HUMAN,E9PJV5_HUMAN,C9J6V3_HUMAN		3	651	-			UPI0000228E33	115					SNV	EML3,stop_gained,p.Glu115Ter,ENST00000394773,NM_153265.2;EML3,stop_gained,p.Glu116Ter,ENST00000278845,;EML3,stop_gained,p.Glu115Ter,ENST00000529309,;EML3,stop_gained,p.Glu87Ter,ENST00000494176,;EML3,stop_gained,p.Glu109Ter,ENST00000394776,;EML3,stop_gained,p.Glu86Ter,ENST00000466886,;EML3,stop_gained,p.Glu86Ter,ENST00000419857,;EML3,stop_gained,p.Glu87Ter,ENST00000466671,;EML3,upstream_gene_variant,,ENST00000531557,;B3GAT3,downstream_gene_variant,,ENST00000531383,;ROM1,upstream_gene_variant,,ENST00000278833,NM_000327.3;B3GAT3,downstream_gene_variant,,ENST00000265471,NM_012200.3;B3GAT3,downstream_gene_variant,,ENST00000534026,;ROM1,upstream_gene_variant,,ENST00000534093,;ROM1,upstream_gene_variant,,ENST00000525947,;ROM1,upstream_gene_variant,,ENST00000525801,;RP11-831H9.3,downstream_gene_variant,,ENST00000532626,;EML3,upstream_gene_variant,,ENST00000438258,;ROM1,upstream_gene_variant,,ENST00000529273,;EML3,stop_gained,p.Glu86Ter,ENST00000494448,;EML3,upstream_gene_variant,,ENST00000460939,;B3GAT3,downstream_gene_variant,,ENST00000532585,;EML3,upstream_gene_variant,,ENST00000483199,;EML3,upstream_gene_variant,,ENST00000526116,;EML3,upstream_gene_variant,,ENST00000462626,;	uc001ntu.1	c.343G>T	651/3256	5	2			c.343G>T						11	SNP	c.(343-345)GAG>TAG	20	20			ovary(1)	1	Broad	echinoderm microtubule associated protein like			62378668		0.697	ENSG00000149499	5013	g.chr11:62378668C>A		cytoplasm|microtubule	protein binding							7.683062	KEEP	2	2	0.5	8	16	2	2	0.5	10.435731	8	16	0.16	1	0	0	0	0	0	1	0	0	--	--		0	A			EML3_uc001ntr.1_Nonsense_Mutation_p.E87*|EML3_uc001nts.1_Nonsense_Mutation_p.E87*|EML3_uc001ntt.1_Missense_Mutation_p.K11N|EML3_uc010rly.1_Nonsense_Mutation_p.E115*|EML3_uc009yny.1_5'UTR|ROM1_uc001ntv.2_5'Flank	235	GBM-32-2491-TP	p.E115*	C	CCGCTAGGCTCTTCGCTGGCC	NM_153265	NP_694997	62378668	Q32P44	EMAL3_HUMAN	0			3	651	-	A	A			Nonsense_Mutation	115						
EML5	161436	broad.mit.edu	GRCh37	14	89084607	89084607	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000554922.1:c.5607C>T	p.Ala1869=	p.A1869=	ENST00000554922	NM_183387.2	1869	gcC/gcT	0	A:0.0003		1			A	A	uc001xxg.2	protein_coding					5583/5910									ovary(3)	3	c.(5605-5607)GCC>GCT				echinoderm microtubule associated protein like			A:0	ENSP00000370039		39/42	4.97E-05	0.000103	8.70E-05					0.000184	rs374476714,COSM3401499,COSM3401500	39/42	.		ENST00000380664	Transcript				cytoplasm|microtubule		ENSG00000165521	g.chr14:89084607G>A	18197			LOW								--	--	1																																		EML5_uc001xxf.2_Silent_p.A656A|EML5_uc001xxd.2_Silent_p.A34A|EML5_uc001xxe.2_Silent_p.A218A	0,1,1				p.A1869A	NM_183387	NP_899243			0,1,1	EMAL5_HUMAN	EML5	HGNC	Q05BV3	EMAL5_HUMAN					41	5793	-			UPI000183882B	1861					SNV	EML5,synonymous_variant,p.=,ENST00000554922,NM_183387.2;EML5,synonymous_variant,p.=,ENST00000352093,;EML5,synonymous_variant,p.=,ENST00000380664,;ZC3H14,downstream_gene_variant,,ENST00000251038,NM_024824.4,NM_001160103.1,NM_001160104.1;ZC3H14,downstream_gene_variant,,ENST00000359301,;EML5,downstream_gene_variant,,ENST00000555823,;EML5,downstream_gene_variant,,ENST00000553320,;EML5,3_prime_UTR_variant,,ENST00000553526,;EML5,non_coding_transcript_exon_variant,,ENST00000553973,;EML5,downstream_gene_variant,,ENST00000553281,;	uc001xxg.2	c.5607C>T	5583/5910	2	2			c.5607C>T						14	SNP	c.(5605-5607)GCC>GCT	33	33			ovary(3)	3	Broad	echinoderm microtubule associated protein like			89084607		0.378	ENSG00000165521	5015	g.chr14:89084607G>A		cytoplasm|microtubule								3.536284	KEEP	3	3	-1	33	21	3	3	-1	12.296013	33	21	0.09434	1	0	0	0	0	0	0	1	0	--	--		0	A			EML5_uc001xxf.2_Silent_p.A656A|EML5_uc001xxd.2_Silent_p.A34A|EML5_uc001xxe.2_Silent_p.A218A	58	GBM-06-0644-TP	p.A1869A	G	TGTCAATAGCGGCATGATCCA	NM_183387	NP_899243	89084607	Q05BV3	EMAL5_HUMAN	0			41	5793	-	A	A			Silent	1861						
EML5	0	broad.mit.edu	GRCh37	14	89130847	89130847	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6285-01	TCGA-76-6285-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380664.5:c.3399G>A	p.Trp1133Ter	p.W1133*	ENST00000380664		1133	tgG/tgA	0			1			T	W/*	uc001xxg.2	protein_coding					3399/5910									ovary(3)	3	c.(3397-3399)TGG>TGA			Gene3D:2.130.10.10,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF16,Superfamily_domains:SSF50998	echinoderm microtubule associated protein like				ENSP00000370039		23/42									COSM3401501,COSM3401502	23/42	.		ENST00000380664	Transcript				cytoplasm|microtubule		ENSG00000165521	g.chr14:89130847C>T	18197			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,14,89130847,C,T&fts=all	W1133*	--	--	1																																		EML5_uc001xxf.2_5'UTR|EML5_uc001xxh.1_Nonsense_Mutation_p.W272*	1,1				p.W1133*	NM_183387	NP_899243			1,1	EMAL5_HUMAN	EML5	HGNC	Q05BV3	EMAL5_HUMAN					24	3585	-			UPI000183882B	1133					SNV	EML5,stop_gained,p.Trp1133Ter,ENST00000554922,NM_183387.2;EML5,stop_gained,p.Trp1095Ter,ENST00000352093,;EML5,stop_gained,p.Trp1133Ter,ENST00000380664,;EML5,stop_gained,p.Trp49Ter,ENST00000553526,;EML5,3_prime_UTR_variant,,ENST00000553281,;	uc001xxg.2	c.3399G>A	3399/5910	5	2			c.3399G>A						14	SNP	c.(3397-3399)TGG>TGA	24	24			ovary(3)	3	Broad	echinoderm microtubule associated protein like			89130847		0.308	ENSG00000165521	5015	g.chr14:89130847C>T		cytoplasm|microtubule								123.977624	KEEP	17	22	-1	6	5	17	22	-1	127.348576	6	5	0.790698	1	0	0	0	0	0	1	0	0	--	--		0	T			EML5_uc001xxf.2_5'UTR|EML5_uc001xxh.1_Nonsense_Mutation_p.W272*	280	GBM-76-6285-TP	p.W1133*	C	CTCTAATATCCCAATCAATAT	NM_183387	NP_899243	89130847	Q05BV3	EMAL5_HUMAN	0			24	3585	-	T	T			Nonsense_Mutation	1133						
EMR1	0	broad.mit.edu	GRCh37	19	6913826	6913826	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312053.4:c.1285C>T	p.Arg429Trp	p.R429W	ENST00000312053	NM_001974.4	429	Cgg/Tgg	0	A:0.0005		1			T	R/W	uc002mfw.2	protein_coding	YES	CCDS12175.1			1285/2661									ovary(3)|lung(1)|skin(1)	5	c.(1285-1287)CGG>TGG			hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF207	egf-like module containing, mucin-like, hormone			A:0	ENSP00000311545		21-Nov	8.24E-05	9.64E-05	8.65E-05			7.55E-05	0.00225	6.56E-05	rs376031317,COSM1397460	21-Nov	.		ENST00000312053	Transcript			cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	ENSG00000174837	g.chr19:6913826C>T	3336			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=EMR1_HUMAN&rb=316&re=515&var=R429W	NA	getma.org/?cm=var&var=hg19,19,6913826,C,T&fts=all	R429W	--	--	1																																		EMR1_uc010dvc.2_Missense_Mutation_p.R429W|EMR1_uc010dvb.2_Missense_Mutation_p.R377W|EMR1_uc010xji.1_Missense_Mutation_p.R288W|EMR1_uc010xjj.1_Missense_Mutation_p.R252W	0,1	1		possibly_damaging(0.776)	p.R429W	NM_001974	NP_001965		deleterious(0.01)	0,1	EMR1_HUMAN	EMR1	HGNC	Q14246	EMR1_HUMAN					11	1323	+	all_hematologic(4;0.166)		UPI0000203241	429			Ser/Thr-rich.|Extracellular (Potential).		SNV	EMR1,missense_variant,p.Arg429Trp,ENST00000312053,NM_001974.4;EMR1,missense_variant,p.Arg377Trp,ENST00000381404,NM_001256252.1;EMR1,missense_variant,p.Arg429Trp,ENST00000250572,NM_001256253.1;EMR1,missense_variant,p.Arg288Trp,ENST00000381407,NM_001256254.1;EMR1,missense_variant,p.Arg252Trp,ENST00000450315,NM_001256255.1;EMR1,downstream_gene_variant,,ENST00000595026,;	uc002mfw.2	c.1285C>T	1322/3128	2	2			c.1285C>T						19	SNP	c.(1285-1287)CGG>TGG	29	29			ovary(3)|lung(1)|skin(1)	5	Broad	egf-like module containing, mucin-like, hormone			6913826		0.498	ENSG00000174837	5019	g.chr19:6913826C>T	cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity							178.038529	KEEP	44	43	-1	139	112	44	43	-1	195.681483	139	112	0.240418	1	0	0	0	0	1	0	0	0	--	--		0	T			EMR1_uc010dvc.2_Missense_Mutation_p.R429W|EMR1_uc010dvb.2_Missense_Mutation_p.R377W|EMR1_uc010xji.1_Missense_Mutation_p.R288W|EMR1_uc010xjj.1_Missense_Mutation_p.R252W	73	GBM-06-0877-TP	p.R429W	C	TCCGGCTGTTCGGACGGAATA	NM_001974	NP_001965	6913826	Q14246	EMR1_HUMAN	0			11	1323	+	T	T	all_hematologic(4;0.166)		Missense_Mutation	429			Ser/Thr-rich.|Extracellular (Potential).			
EMR1	0	broad.mit.edu	GRCh37	19	6928180	6928180	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2559-01	TCGA-06-2559-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312053.4:c.2247G>A	p.Gly749=	p.G749=	ENST00000312053	NM_001974.4	749	ggG/ggA	0			1			A	G	uc002mfw.2	protein_coding	YES	CCDS12175.1			2247/2661									ovary(3)|lung(1)|skin(1)	5	c.(2245-2247)GGG>GGA			Pfam_domain:PF00002,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF207,Superfamily_domains:SSF81321	egf-like module containing, mucin-like, hormone				ENSP00000311545		17/21									COSM3404767	17/21	.		ENST00000312053	Transcript			cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	ENSG00000174837	g.chr19:6928180G>A	3336			LOW								--	--	1																																		EMR1_uc010dvc.2_Silent_p.G684G|EMR1_uc010dvb.2_Silent_p.G697G|EMR1_uc010xji.1_Silent_p.G608G|EMR1_uc010xjj.1_Silent_p.G572G	1	1			p.G749G	NM_001974	NP_001965			1	EMR1_HUMAN	EMR1	HGNC	Q14246	EMR1_HUMAN					17	2285	+	all_hematologic(4;0.166)		UPI0000203241	749			Helical; Name=5; (Potential).		SNV	EMR1,synonymous_variant,p.=,ENST00000312053,NM_001974.4;EMR1,synonymous_variant,p.=,ENST00000381404,NM_001256252.1;EMR1,synonymous_variant,p.=,ENST00000250572,NM_001256253.1;EMR1,synonymous_variant,p.=,ENST00000381407,NM_001256254.1;EMR1,synonymous_variant,p.=,ENST00000450315,NM_001256255.1;	uc002mfw.2	c.2247G>A	2284/3128	2	2			c.2247G>A						19	SNP	c.(2245-2247)GGG>GGA	18	18			ovary(3)|lung(1)|skin(1)	5	Broad	egf-like module containing, mucin-like, hormone			6928180		0.498	ENSG00000174837	5019	g.chr19:6928180G>A	cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity							-60.651059	KEEP	3	3	-1	142	162	3	3	-1	9.256268	142	162	0.021898	1	0	0	0	0	0	0	1	0	--	--		0	A			EMR1_uc010dvc.2_Silent_p.G684G|EMR1_uc010dvb.2_Silent_p.G697G|EMR1_uc010xji.1_Silent_p.G608G|EMR1_uc010xjj.1_Silent_p.G572G	83	GBM-06-2559-TP	p.G749G	G	CAGAGACAGGGTTCATCTGGA	NM_001974	NP_001965	6928180	Q14246	EMR1_HUMAN	0			17	2285	+	A	A	all_hematologic(4;0.166)		Silent	749			Helical; Name=5; (Potential).			
EMR1	0	broad.mit.edu	GRCh37	19	6906478	6906478	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5951-01	TCGA-19-5951-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312053.4:c.984C>T	p.Pro328=	p.P328=	ENST00000312053	NM_001974.4	328	ccC/ccT	0			1			T	P	uc002mfw.2	protein_coding	YES	CCDS12175.1			984/2661									ovary(3)|lung(1)|skin(1)	5	c.(982-984)CCC>CCT			hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF207	egf-like module containing, mucin-like, hormone				ENSP00000311545		21-Sep	1.65E-05		8.65E-05			1.50E-05			rs748327859,COSM2156632	21-Sep	.		ENST00000312053	Transcript			cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	ENSG00000174837	g.chr19:6906478C>T	3336			LOW								--	--	1																																		EMR1_uc010dvc.2_Silent_p.P328P|EMR1_uc010dvb.2_Silent_p.P276P|EMR1_uc010xji.1_Silent_p.P187P|EMR1_uc010xjj.1_Silent_p.P151P	0,1	1			p.P328P	NM_001974	NP_001965			0,1	EMR1_HUMAN	EMR1	HGNC	Q14246	EMR1_HUMAN					9	1022	+	all_hematologic(4;0.166)		UPI0000203241	328			Ser/Thr-rich.|Extracellular (Potential).		SNV	EMR1,synonymous_variant,p.=,ENST00000312053,NM_001974.4;EMR1,synonymous_variant,p.=,ENST00000381404,NM_001256252.1;EMR1,synonymous_variant,p.=,ENST00000250572,NM_001256253.1;EMR1,synonymous_variant,p.=,ENST00000381407,NM_001256254.1;EMR1,synonymous_variant,p.=,ENST00000450315,NM_001256255.1;EMR1,synonymous_variant,p.=,ENST00000595026,;EMR1,downstream_gene_variant,,ENST00000601198,;	uc002mfw.2	c.984C>T	1021/3128	2	2			c.984C>T						19	SNP	c.(982-984)CCC>CCT	45	45			ovary(3)|lung(1)|skin(1)	5	Broad	egf-like module containing, mucin-like, hormone			6906478		0.388	ENSG00000174837	5019	g.chr19:6906478C>T	cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity							79.662503	KEEP	10	20	-1	36	43	10	20	-1	84.170022	36	43	0.277228	1	0	0	0	0	0	0	1	0	--	--		0	T			EMR1_uc010dvc.2_Silent_p.P328P|EMR1_uc010dvb.2_Silent_p.P276P|EMR1_uc010xji.1_Silent_p.P187P|EMR1_uc010xjj.1_Silent_p.P151P	171	GBM-19-5951-TP	p.P328P	C	ATGTGATACCCGATAATAAGC	NM_001974	NP_001965	6906478	Q14246	EMR1_HUMAN	0			9	1022	+	T	T	all_hematologic(4;0.166)		Silent	328			Ser/Thr-rich.|Extracellular (Potential).			
EMR2	0	broad.mit.edu	GRCh37	19	14857101	14857101	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0645-01	TCGA-06-0645-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315576.3:c.2126T>G	p.Ile709Ser	p.I709S	ENST00000315576	NM_013447.3	709	aTt/aGt	0			1			C	I/S	uc002mzp.1	protein_coding	YES	CCDS32935.1			2126/2472									lung(2)|ovary(1)|skin(1)	4	c.(2125-2127)ATT>AGT			Pfam_domain:PF00002,Prints_domain:PR00249,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF179	egf-like module containing, mucin-like, hormone				ENSP00000319883		18/21									COSM2151257	18/21	.		ENST00000315576	Transcript			cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	ENSG00000127507	g.chr19:14857101A>C	3337			MODERATE		2.31	medium	getma.org/?cm=msa&ty=f&p=EMR2_HUMAN&rb=533&re=774&var=I709S	NA	getma.org/?cm=var&var=hg19,19,14857101,A,C&fts=all	I709S	--	--	1																																		EMR2_uc010dzs.1_Missense_Mutation_p.I168S|EMR2_uc010xnw.1_Missense_Mutation_p.I651S|EMR2_uc002mzo.1_Missense_Mutation_p.I698S|EMR2_uc002mzq.1_Missense_Mutation_p.I649S|EMR2_uc002mzr.1_Missense_Mutation_p.I660S|EMR2_uc002mzs.1_Missense_Mutation_p.I567S|EMR2_uc002mzt.1_Missense_Mutation_p.I605S|EMR2_uc002mzu.1_Missense_Mutation_p.I616S|EMR2_uc010xnx.1_RNA	1	1		probably_damaging(0.996)	p.I709S	NM_013447	NP_038475		tolerated(0.08)	1	EMR2_HUMAN	EMR2	HGNC	Q9UHX3	EMR2_HUMAN					18	2582	-			UPI000016393A	709			Cytoplasmic (Potential).		SNV	EMR2,missense_variant,p.Ile709Ser,ENST00000315576,NM_013447.3;EMR2,missense_variant,p.Ile698Ser,ENST00000392967,;EMR2,missense_variant,p.Ile660Ser,ENST00000346057,;EMR2,missense_variant,p.Ile616Ser,ENST00000353876,;EMR2,missense_variant,p.Ile567Ser,ENST00000353005,;EMR2,missense_variant,p.Ile698Ser,ENST00000601345,;EMR2,missense_variant,p.Ile698Ser,ENST00000596991,;EMR2,missense_variant,p.Ile651Ser,ENST00000392965,NM_001271052.1;EMR2,missense_variant,p.Ile660Ser,ENST00000594294,;EMR2,missense_variant,p.Ile616Ser,ENST00000594076,;EMR2,missense_variant,p.Ile567Ser,ENST00000595839,;EMR2,3_prime_UTR_variant,,ENST00000392964,;EMR2,3_prime_UTR_variant,,ENST00000595208,;EMR2,intron_variant,,ENST00000360222,;	uc002mzp.1	c.2126T>G	2578/6767	3	3			c.2126T>G						19	SNP	c.(2125-2127)ATT>AGT	3	3			lung(2)|ovary(1)|skin(1)	4	Broad	egf-like module containing, mucin-like, hormone			14857101		0.388	ENSG00000127507	5020	g.chr19:14857101A>C	cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity							208.452287	KEEP	47	34	-1	117	128	47	34	-1	223.426709	117	128	0.253676	1	0	0	0	0	1	0	0	0	--	--		0	C			EMR2_uc010dzs.1_Missense_Mutation_p.I168S|EMR2_uc010xnw.1_Missense_Mutation_p.I651S|EMR2_uc002mzo.1_Missense_Mutation_p.I698S|EMR2_uc002mzq.1_Missense_Mutation_p.I649S|EMR2_uc002mzr.1_Missense_Mutation_p.I660S|EMR2_uc002mzs.1_Missense_Mutation_p.I567S|EMR2_uc002mzt.1_Missense_Mutation_p.I605S|EMR2_uc002mzu.1_Missense_Mutation_p.I616S|EMR2_uc010xnx.1_RNA	59	GBM-06-0645-TP	p.I709S	A	GTTTTTCAAAATCCAGAGAGT	NM_013447	NP_038475	14857101	Q9UHX3	EMR2_HUMAN	0			18	2582	-	C	C			Missense_Mutation	709			Cytoplasmic (Potential).			
EMR2	0	broad.mit.edu	GRCh37	19	14865775	14865775	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5209-01	TCGA-28-5209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315576.3:c.1581C>T	p.Tyr527=	p.Y527=	ENST00000315576	NM_013447.3	527	taC/taT	0			1			A	Y	uc002mzp.1	protein_coding	YES	CCDS32935.1			1581/2472									lung(2)|ovary(1)|skin(1)	4	c.(1579-1581)TAC>TAT			Prints_domain:PR01278,PROSITE_profiles:PS50221,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF179,SMART_domains:SM00303	egf-like module containing, mucin-like, hormone				ENSP00000319883		14/21	8.24E-05			0.000462				0.000364	rs754549569,COSM3403835	14/21	common_variant		ENST00000315576	Transcript			cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	ENSG00000127507	g.chr19:14865775G>A	3337			LOW								--	--	1																																		EMR2_uc010dzs.1_Intron|EMR2_uc010xnw.1_Intron|EMR2_uc002mzo.1_Silent_p.Y516Y|EMR2_uc002mzq.1_Silent_p.Y467Y|EMR2_uc002mzr.1_Silent_p.Y478Y|EMR2_uc002mzs.1_Silent_p.Y385Y|EMR2_uc002mzt.1_Silent_p.Y423Y|EMR2_uc002mzu.1_Silent_p.Y434Y|EMR2_uc010xnx.1_RNA|EMR2_uc010xny.1_Intron	0,1	1			p.Y527Y	NM_013447	NP_038475			0,1	EMR2_HUMAN	EMR2	HGNC	Q9UHX3	EMR2_HUMAN					14	2037	-			UPI000016393A	527			Extracellular (Potential).|GPS.		SNV	EMR2,stop_gained,p.Arg192Ter,ENST00000392964,;EMR2,synonymous_variant,p.=,ENST00000315576,NM_013447.3;EMR2,synonymous_variant,p.=,ENST00000392967,;EMR2,synonymous_variant,p.=,ENST00000346057,;EMR2,synonymous_variant,p.=,ENST00000353876,;EMR2,synonymous_variant,p.=,ENST00000353005,;EMR2,synonymous_variant,p.=,ENST00000601345,;EMR2,synonymous_variant,p.=,ENST00000596991,;EMR2,synonymous_variant,p.=,ENST00000594294,;EMR2,synonymous_variant,p.=,ENST00000594076,;EMR2,synonymous_variant,p.=,ENST00000595839,;EMR2,intron_variant,,ENST00000392965,NM_001271052.1;EMR2,stop_gained,p.Arg297Ter,ENST00000595208,;EMR2,intron_variant,,ENST00000360222,;EMR2,intron_variant,,ENST00000392962,;	uc002mzp.1	c.1581C>T	2033/6767	1	1			c.1581C>T						19	SNP	c.(1579-1581)TAC>TAT	61	61			lung(2)|ovary(1)|skin(1)	4	Broad	egf-like module containing, mucin-like, hormone			14865775		0.423	ENSG00000127507	5020	g.chr19:14865775G>A	cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity							220.681496	KEEP	44	42	-1	85	102	44	42	-1	226.93835	85	102	0.327731	1	0	0	0	0	0	0	1	0	--	--		0	A			EMR2_uc010dzs.1_Intron|EMR2_uc010xnw.1_Intron|EMR2_uc002mzo.1_Silent_p.Y516Y|EMR2_uc002mzq.1_Silent_p.Y467Y|EMR2_uc002mzr.1_Silent_p.Y478Y|EMR2_uc002mzs.1_Silent_p.Y385Y|EMR2_uc002mzt.1_Silent_p.Y423Y|EMR2_uc002mzu.1_Silent_p.Y434Y|EMR2_uc010xnx.1_RNA|EMR2_uc010xny.1_Intron	218	GBM-28-5209-TP	p.Y527Y	G	CCTGCACATCGTAGTGGGCCA	NM_013447	NP_038475	14865775	Q9UHX3	EMR2_HUMAN	0			14	2037	-	A	A			Silent	527			Extracellular (Potential).|GPS.			
EMR3	0	broad.mit.edu	GRCh37	19	14758015	14758015	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000253673.5:c.860C>T	p.Thr287Met	p.T287M	ENST00000253673	NM_032571.3	287	aCg/aTg	0		A:0.0008	1	A:0		A	T/M	uc002mzi.3	protein_coding	YES	CCDS12315.1			860/1959									ovary(5)|skin(1)	6	c.(859-861)ACG>ATG			hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF178	egf-like module-containing mucin-like receptor		A:0		ENSP00000253673	A:0	16-Aug	1.65E-05							0.000121	rs192735238,COSM1523789	16-Aug	.		ENST00000253673	Transcript		A:0.0002	neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	ENSG00000131355	g.chr19:14758015G>A	23647			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=EMR3_HUMAN&rb=118&re=299&var=T287M	NA	getma.org/?cm=var&var=hg19,19,14758015,G,A&fts=all	T287M	--	--	1																																		EMR3_uc010dzp.2_Missense_Mutation_p.T235M|EMR3_uc010xnv.1_Missense_Mutation_p.T161M	0,1	1		benign(0.051)	p.T287M	NM_032571	NP_115960	A:0	tolerated(0.06)	0,1	EMR3_HUMAN	EMR3	HGNC	Q9BY15	EMR3_HUMAN			M0R1G2_HUMAN		8	1008	-			UPI0000456C29	287			Extracellular (Potential).		SNV	EMR3,missense_variant,p.Thr287Met,ENST00000253673,NM_032571.3;EMR3,missense_variant,p.Thr235Met,ENST00000344373,;EMR3,missense_variant,p.Thr72Met,ENST00000599900,;EMR3,missense_variant,p.Thr161Met,ENST00000443157,;	uc002mzi.3	c.860C>T	961/2254	1	1			c.860C>T						19	SNP	c.(859-861)ACG>ATG	60	60			ovary(5)|skin(1)	6	Broad	egf-like module-containing mucin-like receptor			14758015		0.483	ENSG00000131355	5021	g.chr19:14758015G>A	neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity							246.499407	KEEP	33	82	-1	141	173	33	82	-1	267.489885	141	173	0.253927	1	0	0	0	0	1	0	0	0	--	--		0	A			EMR3_uc010dzp.2_Missense_Mutation_p.T235M|EMR3_uc010xnv.1_Missense_Mutation_p.T161M	142	GBM-14-1034-TP	p.T287M	G	GAAAGTCAGCGTCACAGACTT	NM_032571	NP_115960	14758015	Q9BY15	EMR3_HUMAN	0			8	1008	-	A	A			Missense_Mutation	287			Extracellular (Potential).			
EMR3	0	broad.mit.edu	GRCh37	19	14785604	14785604	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T			TCGA-32-1970-01	TCGA-32-1970-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000253673.5:c.-22G>A		*8*	ENST00000253673	NM_032571.3			0	T:0.0002		1			T		uc002mzi.3	protein_coding	YES	CCDS12315.1			-/1959									ovary(5)|skin(1)	6	c.(-23--19)GCGTG>GCATG				egf-like module-containing mucin-like receptor			T:0	ENSP00000253673		16-Jan	2.47E-05	9.61E-05			0.000151	1.50E-05			rs370548709	16-Jan	.		ENST00000253673	Transcript			neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	ENSG00000131355	g.chr19:14785604C>T	23647			MODIFIER								--	--	1																																		EMR3_uc010dzp.2_Translation_Start_Site|EMR3_uc010xnv.1_Translation_Start_Site		1				NM_032571	NP_115960				EMR3_HUMAN	EMR3	HGNC	Q9BY15	EMR3_HUMAN			M0R1G2_HUMAN		1	127	-			UPI0000456C29						SNV	EMR3,5_prime_UTR_variant,,ENST00000253673,NM_032571.3;EMR3,5_prime_UTR_variant,,ENST00000344373,;EMR3,5_prime_UTR_variant,,ENST00000443157,;EMR3,5_prime_UTR_variant,,ENST00000595472,;EMR3,intron_variant,,ENST00000599900,;	uc002mzi.3	c.-21G>A	80/2254	2	2			c.-21G>A						19	SNP	c.(-23--19)GCGTG>GCATG	41	41			ovary(5)|skin(1)	6	Broad	egf-like module-containing mucin-like receptor			14785604		0.507	ENSG00000131355	5021	g.chr19:14785604C>T	neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity							75.177901	KEEP	13	17	-1	43	38	13	17	-1	79.257074	43	38	0.287129	1	0	0	0	0	0	0	0	0	--	--		0	T			EMR3_uc010dzp.2_Translation_Start_Site|EMR3_uc010xnv.1_Translation_Start_Site	228	GBM-32-1970-TP		C	GGGTATCCCACGCCAGCCAGC	NM_032571	NP_115960	14785604	Q9BY15	EMR3_HUMAN	0			1	127	-	T	T			Translation_Start_Site							
ENAM	0	broad.mit.edu	GRCh37	4	71507774	71507774	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01	TCGA-14-2554-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396073.3:c.631C>T	p.Arg211Cys	p.R211C	ENST00000396073	NM_031889.2	211	Cgc/Tgc	0			1			T	R/C	uc011caw.1	protein_coding	YES	CCDS3544.2			631/3429									ovary(3)	3	c.(631-633)CGC>TGC			hmmpanther:PTHR16784,hmmpanther:PTHR16784:SF2,Low_complexity_(Seg):seg	enamelin precursor				ENSP00000379383		9-Sep									COSM3409454	9-Sep	.		ENST00000396073	Transcript	1		bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	ENSG00000132464	g.chr4:71507774C>T	3344			MODERATE		2.695	medium	getma.org/?cm=msa&ty=f&p=ENAM_HUMAN&rb=201&re=400&var=R211C	NA	getma.org/?cm=var&var=hg19,4,71507774,C,T&fts=all	R211C	--	--	1																																			1	1		probably_damaging(0.973)	p.R211C	NM_031889	NP_114095		deleterious(0)	1	ENAM_HUMAN	ENAM	HGNC	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		Q8NFB4_HUMAN		9	912	+			UPI000013CE60	211					SNV	ENAM,missense_variant,p.Arg211Cys,ENST00000396073,NM_031889.2;ENAM,intron_variant,,ENST00000472903,;ENAM,non_coding_transcript_exon_variant,,ENST00000472597,;	uc011caw.1	c.631C>T	912/5679	2	2			c.631C>T						4	SNP	c.(631-633)CGC>TGC	30	30			ovary(3)	3	Broad	enamelin precursor			71507774		0.398	ENSG00000132464	5027	g.chr4:71507774C>T	bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel							409.820196	KEEP	61	89	-1	153	115	61	89	-1	415.945059	153	115	0.364116	1	0	0	0	0	1	0	0	0	--	--		0	T				150	GBM-14-2554-TP	p.R211C	C	CTTTGGGGGTCGCCCTCCTTA	NM_031889	NP_114095	71507774	Q9NRM1	ENAM_HUMAN	0	Lung(101;0.235)		9	912	+	T	T			Missense_Mutation	211						
ENAM	0	broad.mit.edu	GRCh37	4	71508380	71508380	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-41-2575-01	TCGA-41-2575-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396073.3:c.1237G>T	p.Val413Leu	p.V413L	ENST00000396073	NM_031889.2	413	Gta/Tta	0			1			T	V/L	uc011caw.1	protein_coding	YES	CCDS3544.2			1237/3429									ovary(3)	3	c.(1237-1239)GTA>TTA			Pfam_domain:PF15362,hmmpanther:PTHR16784,hmmpanther:PTHR16784:SF2	enamelin precursor				ENSP00000379383		9-Sep									COSM3409455	9-Sep	.		ENST00000396073	Transcript	1		bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	ENSG00000132464	g.chr4:71508380G>T	3344			MODERATE		2.3	medium	getma.org/?cm=msa&ty=f&p=ENAM_HUMAN&rb=401&re=600&var=V413L	NA	getma.org/?cm=var&var=hg19,4,71508380,G,T&fts=all	V413L	--	--	1																																			1	1		benign(0.007)	p.V413L	NM_031889	NP_114095		tolerated(0.73)	1	ENAM_HUMAN	ENAM	HGNC	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		Q8NFB4_HUMAN		9	1518	+			UPI000013CE60	413					SNV	ENAM,missense_variant,p.Val413Leu,ENST00000396073,NM_031889.2;ENAM,intron_variant,,ENST00000472903,;ENAM,downstream_gene_variant,,ENST00000472597,;	uc011caw.1	c.1237G>T	1518/5679	1	1			c.1237G>T						4	SNP	c.(1237-1239)GTA>TTA	1	1			ovary(3)	3	Broad	enamelin precursor			71508380		0.468	ENSG00000132464	5027	g.chr4:71508380G>T	bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel							-37.277799	KEEP	4	3	0.571428571	89	142	4	3	0.571428571	14.618808	89	142	0.032258	1	0	0	0	0	1	0	0	0	--	--		0	T				253	GBM-41-2575-TP	p.V413L	G	TAAACACCCTGTAGGAACTAC	NM_031889	NP_114095	71508380	Q9NRM1	ENAM_HUMAN	0	Lung(101;0.235)		9	1518	+	T	T			Missense_Mutation	413						
ENC1	0	broad.mit.edu	GRCh37	5	73931841	73931841	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-6701-01	TCGA-06-6701-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302351.4:c.470A>G	p.Asp157Gly	p.D157G	ENST00000302351	NM_003633.3	157	gAt/gGt	0			1			C	D/G	uc003kdc.3	protein_coding	YES	CCDS4021.1			470/1770									ovary(1)|pancreas(1)|skin(1)	3	c.(469-471)GAT>GGT			Pfam_domain:PF07707,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24410,hmmpanther:PTHR24410:SF5,SMART_domains:SM00875	ectodermal-neural cortex (with BTB-like domain)				ENSP00000306356		3-Feb									COSM3410410	3-Feb	.		ENST00000302351	Transcript			nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	ENSG00000171617	g.chr5:73931841T>C	3345			MODERATE		2.795	medium	getma.org/?cm=msa&ty=f&p=ENC1_HUMAN&rb=149&re=251&var=D157G	getma.org/pdb.php?prot=ENC1_HUMAN&from=149&to=251&var=D157G	getma.org/?cm=var&var=hg19,5,73931841,T,C&fts=all	D157G	--	--	1																																		ENC1_uc011css.1_Missense_Mutation_p.D84G	1	1		probably_damaging(0.99)	p.D157G	NM_003633	NP_003624		deleterious(0.01)	1	ENC1_HUMAN	ENC1	HGNC	O14682	ENC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	Q53XS2_HUMAN,D6R9D7_HUMAN,B4DS90_HUMAN		2	1601	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	UPI0000129EBB	157					SNV	ENC1,missense_variant,p.Asp157Gly,ENST00000302351,NM_003633.3;ENC1,missense_variant,p.Asp84Gly,ENST00000510316,NM_001256576.1;ENC1,missense_variant,p.Asp157Gly,ENST00000537006,;HEXB,upstream_gene_variant,,ENST00000511181,;ENC1,downstream_gene_variant,,ENST00000508331,;ENC1,downstream_gene_variant,,ENST00000509127,;ENC1,upstream_gene_variant,,ENST00000509284,;	uc003kdc.3	c.470A>G	1601/5517	3	3			c.470A>G						5	SNP	c.(469-471)GAT>GGT	61	61			ovary(1)|pancreas(1)|skin(1)	3	Broad	ectodermal-neural cortex (with BTB-like domain)			73931841		0.517	ENSG00000171617	5028	g.chr5:73931841T>C	nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding							148.1334	KEEP	27	21	-1	38	44	27	21	-1	149.842768	38	44	0.373984	1	0	0	0	0	1	0	0	0	--	--		0	C			ENC1_uc011css.1_Missense_Mutation_p.D84G	115	GBM-06-6701-TP	p.D157G	T	CTGGTGTGCATCAGACAGCAG	NM_003633	NP_003624	73931841	O14682	ENC1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	2	1601	-	C	C		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	Missense_Mutation	157						
ENC1	0	broad.mit.edu	GRCh37	5	73931652	73931652	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-5220-01	TCGA-28-5220-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302351.4:c.659A>G	p.Tyr220Cys	p.Y220C	ENST00000302351	NM_003633.3	220	tAt/tGt	0			1			C	Y/C	uc003kdc.3	protein_coding	YES	CCDS4021.1			659/1770									ovary(1)|pancreas(1)|skin(1)	3	c.(658-660)TAT>TGT			Pfam_domain:PF07707,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24410,hmmpanther:PTHR24410:SF5,SMART_domains:SM00875	ectodermal-neural cortex (with BTB-like domain)				ENSP00000306356		3-Feb	8.24E-06					1.51E-05			rs758578453,COSM3073161	3-Feb	.		ENST00000302351	Transcript			nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	ENSG00000171617	g.chr5:73931652T>C	3345			MODERATE		2.385	medium	getma.org/?cm=msa&ty=f&p=ENC1_HUMAN&rb=149&re=251&var=Y220C	getma.org/pdb.php?prot=ENC1_HUMAN&from=149&to=251&var=Y220C	getma.org/?cm=var&var=hg19,5,73931652,T,C&fts=all	Y220C	--	--	1																																		ENC1_uc011css.1_Missense_Mutation_p.Y147C	0,1	1		probably_damaging(0.961)	p.Y220C	NM_003633	NP_003624		deleterious(0.01)	0,1	ENC1_HUMAN	ENC1	HGNC	O14682	ENC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	Q53XS2_HUMAN,D6R9D7_HUMAN,B4DS90_HUMAN		2	1790	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	UPI0000129EBB	220					SNV	ENC1,missense_variant,p.Tyr220Cys,ENST00000302351,NM_003633.3;ENC1,missense_variant,p.Tyr147Cys,ENST00000510316,NM_001256576.1;ENC1,missense_variant,p.Tyr220Cys,ENST00000537006,;HEXB,upstream_gene_variant,,ENST00000511181,;ENC1,downstream_gene_variant,,ENST00000508331,;ENC1,downstream_gene_variant,,ENST00000509127,;ENC1,upstream_gene_variant,,ENST00000509284,;	uc003kdc.3	c.659A>G	1790/5517	3	3			c.659A>G						5	SNP	c.(658-660)TAT>TGT	1	1			ovary(1)|pancreas(1)|skin(1)	3	Broad	ectodermal-neural cortex (with BTB-like domain)			73931652		0.512	ENSG00000171617	5028	g.chr5:73931652T>C	nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding							350.223379	KEEP	52	52	-1	71	72	52	52	-1	351.228498	71	72	0.429185	1	0	0	0	0	1	0	0	0	--	--		0	C			ENC1_uc011css.1_Missense_Mutation_p.Y147C	226	GBM-28-5220-TP	p.Y220C	T	CTTCAGGTCATAGCTGATCCA	NM_003633	NP_003624	73931652	O14682	ENC1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	2	1790	-	C	C		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	Missense_Mutation	220						
ENG	0	broad.mit.edu	GRCh37	9	130579436	130579436	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-27-2528-01	TCGA-27-2528-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373203.4:c.1733A>G	p.Asp578Gly	p.D578G	ENST00000373203	NM_000118.3	578	gAc/gGc	0			1			C	D/G	uc004bsj.3	protein_coding	YES	CCDS48029.1			1733/1977										0	c.(1732-1734)GAC>GGC			hmmpanther:PTHR14002:SF1,hmmpanther:PTHR14002	endoglin isoform 1 precursor				ENSP00000362299		13/15									COSM3413352	13/15	.	Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia	ENST00000373203	Transcript	1		artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	ENSG00000106991	g.chr9:130579436T>C	3349			MODERATE		-0.55	neutral	getma.org/?cm=msa&ty=f&p=EGLN_HUMAN&rb=569&re=656&var=D578G	NA	getma.org/?cm=var&var=hg19,9,130579436,T,C&fts=all	D578G	--	--	1																																		ENG_uc011mam.1_Missense_Mutation_p.D389G|ENG_uc004bsk.3_Missense_Mutation_p.D578G|uc004bsl.1_RNA	1	1		benign(0.002)	p.D578G	NM_001114753	NP_001108225		tolerated(0.21)	1	EGLN_HUMAN	ENG	HGNC	P17813	EGLN_HUMAN			Q71V36_HUMAN,F5GX88_HUMAN		13	2146	-			UPI0000129E00	578			Extracellular (Potential).		SNV	ENG,missense_variant,p.Asp578Gly,ENST00000344849,;ENG,missense_variant,p.Asp578Gly,ENST00000373203,NM_000118.3,NM_001114753.2,NM_001278138.1;FPGS,downstream_gene_variant,,ENST00000373245,;FPGS,downstream_gene_variant,,ENST00000373225,NM_001018078.1;FPGS,downstream_gene_variant,,ENST00000373247,NM_004957.4;FPGS,downstream_gene_variant,,ENST00000393706,NM_001288803.1;FPGS,downstream_gene_variant,,ENST00000373228,;RP11-228B15.4,non_coding_transcript_exon_variant,,ENST00000439298,;RP11-228B15.4,upstream_gene_variant,,ENST00000425991,;ENG,non_coding_transcript_exon_variant,,ENST00000480266,;FPGS,downstream_gene_variant,,ENST00000460181,;FPGS,downstream_gene_variant,,ENST00000467826,;ENG,downstream_gene_variant,,ENST00000486329,;FPGS,downstream_gene_variant,,ENST00000488506,;FPGS,downstream_gene_variant,,ENST00000475270,;	uc004bsj.3	c.1733A>G	2134/3048	3	3			c.1733A>G						9	SNP	c.(1732-1734)GAC>GGC	13	13				0	Broad	endoglin isoform 1 precursor			130579436	Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia	0.572	ENSG00000106991	5032	g.chr9:130579436T>C	artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding							66.15518	KEEP	9	9	-1	7	8	9	9	-1	66.264236	7	8	0.5625	1	0	0	0	0	1	0	0	0	--	--		0	C			ENG_uc011mam.1_Missense_Mutation_p.D389G|ENG_uc004bsk.3_Missense_Mutation_p.D578G|uc004bsl.1_RNA	205	GBM-27-2528-TP	p.D578G	T	ACCAGACAGGTCAGGGCTGAT	NM_001114753	NP_001108225	130579436	P17813	EGLN_HUMAN	0			13	2146	-	C	C			Missense_Mutation	578			Extracellular (Potential).			
ENG	0	broad.mit.edu	GRCh37	9	130605418	130605418	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373203.4:c.174C>T	p.Pro58=	p.P58=	ENST00000373203	NM_000118.3	58	ccC/ccT	0			1			A	P	uc004bsj.3	protein_coding	YES	CCDS48029.1			174/1977										0	c.(172-174)CCC>CCT			hmmpanther:PTHR14002:SF1,hmmpanther:PTHR14002	endoglin isoform 1 precursor				ENSP00000362299		15-Feb									COSM2157493	15-Feb	.	Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia	ENST00000373203	Transcript	1		artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	ENSG00000106991	g.chr9:130605418G>A	3349			LOW								--	--	1																																		ENG_uc011mam.1_5'UTR|ENG_uc004bsk.3_Silent_p.P58P	1	1			p.P58P	NM_001114753	NP_001108225			1	EGLN_HUMAN	ENG	HGNC	P17813	EGLN_HUMAN			Q71V36_HUMAN,F5GX88_HUMAN		2	587	-			UPI0000129E00	58			Extracellular (Potential).		SNV	ENG,synonymous_variant,p.=,ENST00000344849,;ENG,synonymous_variant,p.=,ENST00000373203,NM_000118.3,NM_001114753.2,NM_001278138.1;RNA5SP296,upstream_gene_variant,,ENST00000410523,;	uc004bsj.3	c.174C>T	575/3048	1	1			c.174C>T						9	SNP	c.(172-174)CCC>CCT	59	59				0	Broad	endoglin isoform 1 precursor			130605418	Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia	0.602	ENSG00000106991	5032	g.chr9:130605418G>A	artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding							644.996339	KEEP	98	117	-1	98	134	98	117	-1	645.115304	98	134	0.48184	1	0	0	0	0	0	0	1	0	--	--		0	A			ENG_uc011mam.1_5'UTR|ENG_uc004bsk.3_Silent_p.P58P	265	GBM-76-4925-TP	p.P58P	G	GGATGGCATTGGGGGCCTGAG	NM_001114753	NP_001108225	130605418	P17813	EGLN_HUMAN	0			2	587	-	A	A			Silent	58			Extracellular (Potential).			
ENGASE	64772	broad.mit.edu	GRCh37	17	77081816	77081816	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A			TCGA-06-0649-01	TCGA-06-0649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000579016.1:c.1815G>A		p.X605_splice	ENST00000579016	NM_001042573.2	605	caG/caA	0			1			A	Q	uc002jwv.2	protein_coding	YES	CCDS42394.1			1815/2232									skin(1)	1	c.(1813-1815)CAG>CAA			hmmpanther:PTHR13246,hmmpanther:PTHR13246:SF0	endo-beta-N-acetylglucosaminidase				ENSP00000462333		13/14	8.28E-06					1.62E-05			rs779722923,COSM3403332	13/14	.		ENST00000579016	Transcript				cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	ENSG00000167280	g.chr17:77081816G>A	24622			LOW								--	--	1																																		ENGASE_uc002jww.2_Silent_p.Q310Q	0,1	1			p.Q605Q	NM_001042573	NP_001036038			0,1	ENASE_HUMAN	ENGASE	HGNC	Q8NFI3	ENASE_HUMAN					13	1823	+			UPI000006CF27	605					SNV	ENGASE,splice_region_variant,p.=,ENST00000579016,NM_001042573.2;RBFOX3,downstream_gene_variant,,ENST00000583458,;RBFOX3,downstream_gene_variant,,ENST00000415831,;ENGASE,downstream_gene_variant,,ENST00000539857,;ENGASE,downstream_gene_variant,,ENST00000311595,;ENGASE,non_coding_transcript_exon_variant,,ENST00000585160,;ENGASE,downstream_gene_variant,,ENST00000584568,;ENGASE,splice_region_variant,,ENST00000300682,;ENGASE,splice_region_variant,,ENST00000579809,;ENGASE,downstream_gene_variant,,ENST00000578419,;ENGASE,downstream_gene_variant,,ENST00000577783,;ENGASE,downstream_gene_variant,,ENST00000583041,;ENGASE,downstream_gene_variant,,ENST00000583646,;	uc002jwv.2	c.1815G>A	1815/2579	2	2			c.1815G>A						17	SNP	c.(1813-1815)CAG>CAA	46	46			skin(1)	1	Broad	endo-beta-N-acetylglucosaminidase			77081816		0.677	ENSG00000167280	5033	g.chr17:77081816G>A		cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity							36.567856	KEEP	6	9	-1	10	10	6	9	-1	36.744192	10	10	0.419355	1	0	0	0	0	0	0	1	0	--	--		0	A			ENGASE_uc002jww.2_Silent_p.Q310Q	62	GBM-06-0649-TP	p.Q605Q	G	GAGAGATCCAGGTGATGCTTC	NM_001042573	NP_001036038	77081816	Q8NFI3	ENASE_HUMAN	0			13	1823	+	A	A			Silent	605						
ENGASE	64772	broad.mit.edu	GRCh37	17	77081747	77081747	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-1804-01	TCGA-06-1804-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000579016.1:c.1746C>T	p.Leu582=	p.L582=	ENST00000579016	NM_001042573.2	582	ctC/ctT	0			1			T	L	uc002jwv.2	protein_coding	YES	CCDS42394.1			1746/2232									skin(1)	1	c.(1744-1746)CTC>CTT			hmmpanther:PTHR13246,hmmpanther:PTHR13246:SF0,Low_complexity_(Seg):seg	endo-beta-N-acetylglucosaminidase				ENSP00000462333		13/14	3.31E-05		0.000262			1.52E-05			rs755973878,COSM3403331	13/14	.		ENST00000579016	Transcript				cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	ENSG00000167280	g.chr17:77081747C>T	24622			LOW								--	--	1																																		ENGASE_uc002jww.2_Silent_p.L287L	0,1	1			p.L582L	NM_001042573	NP_001036038			0,1	ENASE_HUMAN	ENGASE	HGNC	Q8NFI3	ENASE_HUMAN					13	1754	+			UPI000006CF27	582					SNV	ENGASE,synonymous_variant,p.=,ENST00000579016,NM_001042573.2;RBFOX3,downstream_gene_variant,,ENST00000583458,;RBFOX3,downstream_gene_variant,,ENST00000415831,;ENGASE,downstream_gene_variant,,ENST00000539857,;ENGASE,downstream_gene_variant,,ENST00000311595,;ENGASE,non_coding_transcript_exon_variant,,ENST00000585160,;ENGASE,downstream_gene_variant,,ENST00000584568,;ENGASE,3_prime_UTR_variant,,ENST00000300682,;ENGASE,non_coding_transcript_exon_variant,,ENST00000579809,;ENGASE,downstream_gene_variant,,ENST00000578419,;ENGASE,downstream_gene_variant,,ENST00000577783,;ENGASE,downstream_gene_variant,,ENST00000583041,;ENGASE,downstream_gene_variant,,ENST00000583646,;	uc002jwv.2	c.1746C>T	1746/2579	2	2			c.1746C>T						17	SNP	c.(1744-1746)CTC>CTT	32	32			skin(1)	1	Broad	endo-beta-N-acetylglucosaminidase			77081747		0.662	ENSG00000167280	5033	g.chr17:77081747C>T		cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity							18.886472	KEEP	7	5	-1	37	39	7	5	-1	26.733157	37	39	0.157143	1	0	0	0	0	0	0	1	0	--	--		0	T			ENGASE_uc002jww.2_Silent_p.L287L	79	GBM-06-1804-TP	p.L582L	C	TAGACCTCCTCGTTTGCTTCT	NM_001042573	NP_001036038	77081747	Q8NFI3	ENASE_HUMAN	0			13	1754	+	T	T			Silent	582						
ENGASE	0	broad.mit.edu	GRCh37	17	77073856	77073856	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-5211-01	TCGA-28-5211-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000579016.1:c.326A>G	p.Glu109Gly	p.E109G	ENST00000579016	NM_001042573.2	109	gAg/gGg	0			1			G	E/G	uc002jwv.2	protein_coding	YES	CCDS42394.1			326/2232									skin(1)	1	c.(325-327)GAG>GGG			hmmpanther:PTHR13246,hmmpanther:PTHR13246:SF0	endo-beta-N-acetylglucosaminidase				ENSP00000462333		14-Mar									COSM3403330	14-Mar	.		ENST00000579016	Transcript				cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	ENSG00000167280	g.chr17:77073856A>G	24622			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=ENASE_HUMAN&rb=1&re=130&var=E109G	NA	getma.org/?cm=var&var=hg19,17,77073856,A,G&fts=all	E109G	--	--	1																																		ENGASE_uc002jwu.1_Missense_Mutation_p.E109G|ENGASE_uc010wtz.1_5'UTR|ENGASE_uc002jww.2_5'Flank	1	1		benign(0.005)	p.E109G	NM_001042573	NP_001036038		tolerated(0.36)	1	ENASE_HUMAN	ENGASE	HGNC	Q8NFI3	ENASE_HUMAN					3	334	+			UPI000006CF27	109					SNV	ENGASE,missense_variant,p.Glu109Gly,ENST00000579016,NM_001042573.2;ENGASE,missense_variant,p.Glu68Gly,ENST00000311595,;ENGASE,5_prime_UTR_variant,,ENST00000539857,;ENGASE,upstream_gene_variant,,ENST00000584568,;ENGASE,missense_variant,p.Glu109Gly,ENST00000578419,;ENGASE,upstream_gene_variant,,ENST00000300682,;ENGASE,upstream_gene_variant,,ENST00000583646,;	uc002jwv.2	c.326A>G	326/2579	3	3			c.326A>G						17	SNP	c.(325-327)GAG>GGG	53	53			skin(1)	1	Broad	endo-beta-N-acetylglucosaminidase			77073856		0.592	ENSG00000167280	5033	g.chr17:77073856A>G		cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity							21.392549	KEEP	8	4	-1	31	29	8	4	-1	28.783027	31	29	0.161765	1	0	0	0	0	1	0	0	0	--	--		0	G			ENGASE_uc002jwu.1_Missense_Mutation_p.E109G|ENGASE_uc010wtz.1_5'UTR|ENGASE_uc002jww.2_5'Flank	219	GBM-28-5211-TP	p.E109G	A	GTGGCCCTGGAGCCCCTGGCG	NM_001042573	NP_001036038	77073856	Q8NFI3	ENASE_HUMAN	0			3	334	+	G	G			Missense_Mutation	109						
ENGASE	64772		GRCh37	17	77073797	77073797	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000579016.1:c.267G>T	p.Ser89=	p.S89=	ENST00000579016	NM_001042573.2	89	tcG/tcT	0																																																																																																																																																																																																																																												
ENO2	2026	broad.mit.edu	GRCh37	12	7026819	7026819	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-2564-01	TCGA-06-2564-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000535366.1:c.385C>G	p.Pro129Ala	p.P129A	ENST00000535366		129	Ccc/Gcc	0			1			G	P/A	uc001qru.1	protein_coding		CCDS8570.1			385/1305										0	c.(385-387)CCC>GCC			Gene3D:3.20.20.120,HAMAP:MF_00318,Pfam_domain:PF03952,PIRSF_domain:PIRSF001400,hmmpanther:PTHR11902,hmmpanther:PTHR11902:SF10,Superfamily_domains:SSF54826,TIGRFAM_domain:TIGR01060	enolase 2				ENSP00000229277		12-Jun									COSM2152955	12-Jun	.		ENST00000229277	Transcript			gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity	ENSG00000111674	g.chr12:7026819C>G	3353			MODERATE		4.575	high	getma.org/?cm=msa&ty=f&p=ENOG_HUMAN&rb=2&re=134&var=P129A	getma.org/pdb.php?prot=ENOG_HUMAN&from=2&to=134&var=P129A	getma.org/?cm=var&var=hg19,12,7026819,C,G&fts=all	P129A	--	--	1																																		ENO2_uc009zfi.1_Missense_Mutation_p.P129A|ENO2_uc010sfq.1_Missense_Mutation_p.P86A|ENO2_uc001qrv.1_Missense_Mutation_p.P129A	1			possibly_damaging(0.817)	p.P129A	NM_001975	NP_001966		deleterious_low_confidence(0)	1	ENOG_HUMAN	ENO2	HGNC	P09104	ENOG_HUMAN			Q6FHV6_HUMAN,F5H1C3_HUMAN		6	607	+			UPI000013C8F1	129					SNV	ENO2,missense_variant,p.Pro129Ala,ENST00000535366,;ENO2,missense_variant,p.Pro129Ala,ENST00000541477,;ENO2,missense_variant,p.Pro129Ala,ENST00000229277,NM_001975.2;ENO2,missense_variant,p.Pro86Ala,ENST00000538763,;ENO2,missense_variant,p.Pro86Ala,ENST00000544774,;ENO2,intron_variant,,ENST00000545045,;LRRC23,downstream_gene_variant,,ENST00000007969,NM_201650.2,NM_001135217.1;LRRC23,downstream_gene_variant,,ENST00000443597,;LRRC23,downstream_gene_variant,,ENST00000323702,NM_006992.3;LRRC23,downstream_gene_variant,,ENST00000436789,;LRRC23,downstream_gene_variant,,ENST00000429740,;ENO2,downstream_gene_variant,,ENST00000537688,;ENO2,upstream_gene_variant,,ENST00000543975,;LRRC23,downstream_gene_variant,,ENST00000472633,;ENO2,upstream_gene_variant,,ENST00000534977,;ENO2,non_coding_transcript_exon_variant,,ENST00000542509,;ENO2,non_coding_transcript_exon_variant,,ENST00000441285,;LRRC23,downstream_gene_variant,,ENST00000451681,;LRRC23,downstream_gene_variant,,ENST00000431207,;LRRC23,downstream_gene_variant,,ENST00000428946,;ENO2,downstream_gene_variant,,ENST00000536199,;ENO2,upstream_gene_variant,,ENST00000535275,;ENO2,downstream_gene_variant,,ENST00000539713,;ENO2,downstream_gene_variant,,ENST00000537838,;	uc001qru.1	c.385C>G	607/2423	3	3			c.385C>G						12	SNP	c.(385-387)CCC>GCC	59	59				0	Broad	enolase 2			7026819		0.617	ENSG00000111674	5037	g.chr12:7026819C>G	gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity							69.505692	KEEP	17	8	-1	14	15	17	8	-1	69.553094	14	15	0.469388	1	0	0	0	0	1	0	0	0	--	--		0	G			ENO2_uc009zfi.1_Missense_Mutation_p.P129A|ENO2_uc010sfq.1_Missense_Mutation_p.P86A|ENO2_uc001qrv.1_Missense_Mutation_p.P129A	87	GBM-06-2564-TP	p.P129A	C	GCGGGAACTGCCCCTGTATCG	NM_001975	NP_001966	7026819	P09104	ENOG_HUMAN	0			6	607	+	G	G			Missense_Mutation	129						
ENO3	2027	broad.mit.edu	GRCh37	17	4860277	4860277	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0152-01	TCGA-06-0152-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323997.6:c.1240G>A	p.Glu414Lys	p.E414K	ENST00000323997	NM_001976.4	414	Gag/Aag	0			1			A	E/K	uc002gab.3	protein_coding	YES	CCDS11062.1			1240/1305									ovary(1)	1	c.(1240-1242)GAG>AAG			Gene3D:3.20.20.120,HAMAP:MF_00318,Pfam_domain:PF00113,PIRSF_domain:PIRSF001400,hmmpanther:PTHR11902,hmmpanther:PTHR11902:SF5,Superfamily_domains:SSF51604,TIGRFAM_domain:TIGR01060	enolase 3				ENSP00000324105		12-Dec	3.29E-05			0.000462					rs773760593,COSM2149840	12-Dec	common_variant		ENST00000323997	Transcript	1		gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity	ENSG00000108515	g.chr17:4860277G>A	3354			MODERATE		3.23	medium	getma.org/?cm=msa&ty=f&p=ENOB_HUMAN&rb=142&re=432&var=E414K	getma.org/pdb.php?prot=ENOB_HUMAN&from=142&to=432&var=E414K	getma.org/?cm=var&var=hg19,17,4860277,G,A&fts=all	E414K	--	--	1																																OREG0024110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENO3_uc002gac.3_Missense_Mutation_p.E414K|ENO3_uc010vss.1_Missense_Mutation_p.E371K|ENO3_uc010vst.1_Missense_Mutation_p.E241K	0,1	1		probably_damaging(0.999)	p.E414K	NM_053013	NP_443739		deleterious_low_confidence(0)	0,1	ENOB_HUMAN	ENO3	HGNC	P13929	ENOB_HUMAN			K7EPM1_HUMAN,K7EP84_HUMAN,K7EKN2_HUMAN,E5RI09_HUMAN,E5RGZ4_HUMAN,E5RG95_HUMAN,D3DTL4_HUMAN		12	1334	+			UPI000016A894	414					SNV	ENO3,missense_variant,p.Glu414Lys,ENST00000323997,NM_001976.4,NM_053013.3;ENO3,missense_variant,p.Glu414Lys,ENST00000518175,;ENO3,missense_variant,p.Glu371Lys,ENST00000519584,NM_001193503.1;SPAG7,downstream_gene_variant,,ENST00000573366,;SPAG7,downstream_gene_variant,,ENST00000575142,;ENO3,downstream_gene_variant,,ENST00000522301,;SPAG7,downstream_gene_variant,,ENST00000206020,NM_004890.2;ENO3,downstream_gene_variant,,ENST00000519602,;ENO3,downstream_gene_variant,,ENST00000520221,;ENO3,downstream_gene_variant,,ENST00000521811,;ENO3,downstream_gene_variant,,ENST00000522798,;ENO3,downstream_gene_variant,,ENST00000522249,;ENO3,non_coding_transcript_exon_variant,,ENST00000522954,;ENO3,non_coding_transcript_exon_variant,,ENST00000522425,;ENO3,downstream_gene_variant,,ENST00000521659,;ENO3,downstream_gene_variant,,ENST00000519834,;SPAG7,downstream_gene_variant,,ENST00000575784,;ENO3,downstream_gene_variant,,ENST00000518972,;ENO3,downstream_gene_variant,,ENST00000571235,;ENO3,downstream_gene_variant,,ENST00000519300,;SPAG7,downstream_gene_variant,,ENST00000572148,;SPAG7,downstream_gene_variant,,ENST00000573805,;	uc002gab.3	c.1240G>A	1372/1521	2	2			c.1240G>A						17	SNP	c.(1240-1242)GAG>AAG	24	24			ovary(1)	1	Broad	enolase 3			4860277		0.577	ENSG00000108515	5038	g.chr17:4860277G>A	gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity							297.753437	KEEP	49	59	-1	77	66	49	59	-1	298.421025	77	66	0.440909	1	0	0	0	0	1	0	0	0	--	--		0	A	OREG0024110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENO3_uc002gac.3_Missense_Mutation_p.E414K|ENO3_uc010vss.1_Missense_Mutation_p.E371K|ENO3_uc010vst.1_Missense_Mutation_p.E241K	25	GBM-06-0152-TP	p.E414K	G	TTCTAGGATCGAGGAGGCTCT	NM_053013	NP_443739	4860277	P13929	ENOB_HUMAN	0			12	1334	+	A	A			Missense_Mutation	414						
ENOPH1	58478	broad.mit.edu	GRCh37	4	83372300	83372300	+	synonymous_variant	Silent	SNP	G	G	A	rs143039236	by1000genomes	TCGA-06-0141-01	TCGA-06-0141-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273920.3:c.291G>A	p.Val97=	p.V97=	ENST00000273920	NM_021204.3	97	gtG/gtA	0		A:0	1	A:0		A	V	uc003hmv.2	protein_coding	YES	CCDS3594.1			291/786										0	c.(289-291)GTG>GTA			HAMAP:MF_03117,HAMAP:MF_01681,hmmpanther:PTHR20371,TIGRFAM_domain:TIGR01691,Pfam_domain:PF13419,Gene3D:3.40.50.1000,Superfamily_domains:SSF56784	enolase-phosphatase 1		A:0.002		ENSP00000273920	A:0	6-Mar	6.59E-05			0.000925					rs143039236,COSM3409577	6-Mar	common_variant		ENST00000273920	Transcript		A:0.0004	L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity	ENSG00000145293	g.chr4:83372300G>A	24599			LOW								--	--	1																																		ENOPH1_uc003hmw.2_Silent_p.V9V|ENOPH1_uc003hmx.2_Intron	0,1	1			p.V97V	NM_021204	NP_067027	A:0		0,1	ENOPH_HUMAN	ENOPH1	HGNC	Q9UHY7	ENOPH_HUMAN			D6RA00_HUMAN		3	548	+			UPI000006D6DB	97					SNV	ENOPH1,synonymous_variant,p.=,ENST00000273920,NM_021204.3;ENOPH1,synonymous_variant,p.=,ENST00000509635,;ENOPH1,intron_variant,,ENST00000505846,;	uc003hmv.2	c.291G>A	559/2025	1	1			c.291G>A						4	SNP	c.(289-291)GTG>GTA	56	56				0	Broad	enolase-phosphatase 1			83372300		0.562	ENSG00000145293	5039	g.chr4:83372300G>A	L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity							1.760424	KEEP	4	3	-1	35	42	4	3	-1	15.017362	35	42	0.089744	1	0	0	0	0	0	0	1	0	--	--		0	A			ENOPH1_uc003hmw.2_Silent_p.V9V|ENOPH1_uc003hmx.2_Intron	21	GBM-06-0141-TP	p.V97V	G	TAGATAATGTGTGCTGGCAGA	NM_021204	NP_067027	83372300	Q9UHY7	ENOPH_HUMAN	0			3	548	+	A	A			Silent	97						
ENOX1	0	broad.mit.edu	GRCh37	13	43935415	43935415	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C			TCGA-14-0813-01	TCGA-14-0813-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261488.6:c.382A>G	p.Asn128Asp	p.N128D	ENST00000261488	NM_017993.3	128	Aat/Gat	0			1			C	N/D	uc001uza.3	protein_coding	YES	CCDS9389.1			382/1932									pancreas(1)|skin(1)	2	c.(382-384)AAT>GAT			hmmpanther:PTHR16001:SF6,hmmpanther:PTHR16001,Gene3D:3.30.70.330,Superfamily_domains:SSF54928	ecto-NOX disulfide-thiol exchanger 1				ENSP00000261488		17-Jun									COSM3399378,COSM3399377	17-Jun	.		ENST00000261488	Transcript			electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	ENSG00000120658	g.chr13:43935415T>C	25474			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=ENOX1_HUMAN&rb=1&re=143&var=N128D	NA	getma.org/?cm=var&var=hg19,13,43935415,T,C&fts=all	N128D	--	--	1																																		ENOX1_uc001uzb.3_Missense_Mutation_p.N128D|ENOX1_uc001uzc.3_Missense_Mutation_p.N128D|ENOX1_uc010tfm.1_5'Flank	1,1	1		benign(0.394)	p.N128D	NM_001127615	NP_001121087		deleterious(0.05)	1,1	ENOX1_HUMAN	ENOX1	HGNC	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)			6	682	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	UPI0000071D6F	128			Pro-rich.		SNV	ENOX1,missense_variant,p.Asn128Asp,ENST00000261488,NM_017993.3,NM_001242863.1;ENOX1,missense_variant,p.Asn128Asp,ENST00000412891,NM_001127615.1;ENOX1,upstream_gene_variant,,ENST00000540032,;ENOX1,splice_region_variant,,ENST00000482207,;	uc001uza.3	c.382A>G	960/2982	3	3			c.382A>G						13	SNP	c.(382-384)AAT>GAT	58	58			pancreas(1)|skin(1)	2	Broad	ecto-NOX disulfide-thiol exchanger 1			43935415		0.378	ENSG00000120658	5041	g.chr13:43935415T>C	electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity							2.587093	KEEP	14	0	-1	120	75	14	0	-1	39.411931	120	75	0.071795	1	0	0	0	0	1	0	0	0	--	--		0	C			ENOX1_uc001uzb.3_Missense_Mutation_p.N128D|ENOX1_uc001uzc.3_Missense_Mutation_p.N128D|ENOX1_uc010tfm.1_5'Flank	138	GBM-14-0813-TP	p.N128D	T	CGTTACTTACTTGGATTTTGA	NM_001127615	NP_001121087	43935415	Q8TC92	ENOX1_HUMAN	0		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	6	682	-	C	C		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	Missense_Mutation	128			Pro-rich.			
ENOX1	0	broad.mit.edu	GRCh37	13	43788215	43788215	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs146880051		TCGA-32-2494-01	TCGA-32-2494-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261488.6:c.1843C>T	p.Arg615Cys	p.R615C	ENST00000261488	NM_017993.3	615	Cgc/Tgc	0	A:0.0002		1			A	R/C	uc001uza.3	protein_coding	YES	CCDS9389.1			1843/1932									pancreas(1)|skin(1)	2	c.(1843-1845)CGC>TGC			hmmpanther:PTHR16001:SF6,hmmpanther:PTHR16001	ecto-NOX disulfide-thiol exchanger 1			A:0.0002	ENSP00000261488		17/17	0.00014	9.61E-05	8.64E-05			0.00021		6.07E-05	rs146880051,COSM3399376,COSM3399375	17/17	.		ENST00000261488	Transcript			electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	ENSG00000120658	g.chr13:43788215G>A	25474			MODERATE		-0.49	neutral	getma.org/?cm=msa&ty=f&p=ENOX1_HUMAN&rb=605&re=643&var=R615C	NA	getma.org/?cm=var&var=hg19,13,43788215,G,A&fts=all	R615C	--	--	1																																		ENOX1_uc001uzb.3_Missense_Mutation_p.R615C|ENOX1_uc001uzc.3_Missense_Mutation_p.R615C|ENOX1_uc001uyz.3_Missense_Mutation_p.R224C	0,1,1	1		possibly_damaging(0.543)	p.R615C	NM_001127615	NP_001121087		tolerated(0.16)	0,1,1	ENOX1_HUMAN	ENOX1	HGNC	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)			17	2143	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	UPI0000071D6F	615					SNV	ENOX1,missense_variant,p.Arg615Cys,ENST00000261488,NM_017993.3,NM_001242863.1;ENOX1,missense_variant,p.Arg615Cys,ENST00000412891,NM_001127615.1;	uc001uza.3	c.1843C>T	2421/2982	2	2			c.1843C>T						13	SNP	c.(1843-1845)CGC>TGC	45	45			pancreas(1)|skin(1)	2	Broad	ecto-NOX disulfide-thiol exchanger 1			43788215		0.433	ENSG00000120658	5041	g.chr13:43788215G>A	electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity							-23.307656	KEEP	0	5	-1	67	79	0	5	-1	7.776222	67	79	0.031008	1	0	0	0	0	1	0	0	0	--	--		0	A			ENOX1_uc001uzb.3_Missense_Mutation_p.R615C|ENOX1_uc001uzc.3_Missense_Mutation_p.R615C|ENOX1_uc001uyz.3_Missense_Mutation_p.R224C	236	GBM-32-2494-TP	p.R615C	G	TTGAACATGCGTGGCAGCCTC	NM_001127615	NP_001121087	43788215	Q8TC92	ENOX1_HUMAN	0		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	17	2143	-	A	A		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	Missense_Mutation	615						
ENOX2	10495	broad.mit.edu	GRCh37	X	129759313	129759313	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0939-01	TCGA-06-0939-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338144.3:c.1808G>T	p.Gly603Val	p.G603V	ENST00000338144	NM_182314.1	603	gGc/gTc	0			1			A	G/V	uc004evw.2	protein_coding	YES	CCDS14626.1			1808/1833									ovary(1)	1	c.(1807-1809)GGC>GTC			hmmpanther:PTHR16001,hmmpanther:PTHR16001:SF7	ecto-NOX disulfide-thiol exchanger 2 isoform b				ENSP00000337146		16/16									COSM3748183	16/16	.		ENST00000338144	Transcript			cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	ENSG00000165675	g.chrX:129759313C>A	2259			MODERATE		2.005	medium	getma.org/?cm=msa&ty=f&p=ENOX2_HUMAN&rb=560&re=610&var=G603V	NA	getma.org/?cm=var&var=hg19,X,129759313,C,A&fts=all	G603V	--	--	1																																		ENOX2_uc004evx.2_Missense_Mutation_p.G574V|ENOX2_uc004evy.2_Missense_Mutation_p.G574V|ENOX2_uc004evv.2_Missense_Mutation_p.G428V	1	1		probably_damaging(1)	p.G603V	NM_182314	NP_872114		tolerated(0.07)	1	ENOX2_HUMAN	ENOX2	HGNC	Q16206	ENOX2_HUMAN			B1AKF7_HUMAN		16	2226	-			UPI00000729D5	603					SNV	ENOX2,missense_variant,p.Gly603Val,ENST00000338144,NM_182314.1;ENOX2,missense_variant,p.Gly574Val,ENST00000394363,NM_006375.2;ENOX2,missense_variant,p.Gly574Val,ENST00000370935,NM_001281736.1;ENOX2,missense_variant,p.Gly603Val,ENST00000370927,;	uc004evw.2	c.1808G>T	2226/4184	1	1			c.1808G>T						23	SNP	c.(1807-1809)GGC>GTC	56	56			ovary(1)	1	Broad	ecto-NOX disulfide-thiol exchanger 2 isoform b			129759313		0.438	ENSG00000165675	5042	g.chrX:129759313C>A	cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	Ovarian(101;828 1506 2951 9500 35258)			Ovarian(101;828 1506 2951 9500 35258)			-14.820312	KEEP	7	7	0.5	120	96	7	7	0.5	22.746091	120	96	0.059459	1	0	0	0	0	1	0	0	0	--	--		0	A			ENOX2_uc004evx.2_Missense_Mutation_p.G574V|ENOX2_uc004evy.2_Missense_Mutation_p.G574V|ENOX2_uc004evv.2_Missense_Mutation_p.G428V	78	GBM-06-0939-TP	p.G603V	C	GCCCTCGAAGCCACAGAATTT	NM_182314	NP_872114	129759313	Q16206	ENOX2_HUMAN	0			16	2226	-	A	A			Missense_Mutation	603						
ENPEP	0	broad.mit.edu	GRCh37	4	111474494	111474494	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01	TCGA-27-1834-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265162.5:c.2525C>T	p.Thr842Met	p.T842M	ENST00000265162	NM_001977.3	842	aCg/aTg	0			1			T	T/M	uc003iab.3	protein_coding	YES	CCDS3691.1			2525/2874									skin(3)|ovary(1)|breast(1)	5	c.(2524-2526)ACG>ATG			Pfam_domain:PF11838,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF165	glutamyl aminopeptidase	L-Glutamic Acid(DB00142)			ENSP00000265162		18/20	8.24E-06					1.50E-05			rs200338472,COSM3006502	18/20	.		ENST00000265162	Transcript			cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	ENSG00000138792	g.chr4:111474494C>T	3355			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=AMPE_HUMAN&rb=616&re=933&var=T842M	getma.org/pdb.php?prot=AMPE_HUMAN&from=616&to=933&var=T842M	getma.org/?cm=var&var=hg19,4,111474494,C,T&fts=all	T842M	--	--	1																																			0,1	1		possibly_damaging(0.901)	p.T842M	NM_001977	NP_001968		deleterious(0.04)	0,1	AMPE_HUMAN	ENPEP	HGNC	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)			18	2867	+		Hepatocellular(203;0.217)	UPI000013D5C6	842			Extracellular (Potential).		SNV	ENPEP,missense_variant,p.Thr842Met,ENST00000265162,NM_001977.3;ENPEP,non_coding_transcript_exon_variant,,ENST00000502711,;	uc003iab.3	c.2525C>T	2867/6943	1	1			c.2525C>T						4	SNP	c.(2524-2526)ACG>ATG	13	13			skin(3)|ovary(1)|breast(1)	5	Broad	glutamyl aminopeptidase		L-Glutamic Acid(DB00142)	111474494		0.353	ENSG00000138792	5043	g.chr4:111474494C>T	cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding							159.332698	KEEP	36	32	-1	115	92	36	32	-1	172.207701	115	92	0.257261	1	0	0	0	0	1	0	0	0	--	--		0	T				193	GBM-27-1834-TP	p.T842M	C	CTCAAGGACACGAACCTTATT	NM_001977	NP_001968	111474494	Q07075	AMPE_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	18	2867	+	T	T		Hepatocellular(203;0.217)	Missense_Mutation	842			Extracellular (Potential).			
ENPEP	0	broad.mit.edu	GRCh37	4	111430927	111430927	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-28-2513-01	TCGA-28-2513-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265162.5:c.1158G>T	p.Arg386Ser	p.R386S	ENST00000265162	NM_001977.3	386	agG/agT	0			1			T	R/S	uc003iab.3	protein_coding	YES	CCDS3691.1			1158/2874									skin(3)|ovary(1)|breast(1)	5	c.(1156-1158)AGG>AGT			Pfam_domain:PF01433,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF165,Superfamily_domains:SSF55486	glutamyl aminopeptidase	L-Glutamic Acid(DB00142)			ENSP00000265162		20-May									COSM3408993	20-May	.		ENST00000265162	Transcript			cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	ENSG00000138792	g.chr4:111430927G>T	3355			MODERATE		2.245	medium	getma.org/?cm=msa&ty=f&p=AMPE_HUMAN&rb=92&re=482&var=R386S	getma.org/pdb.php?prot=AMPE_HUMAN&from=92&to=482&var=R386S	getma.org/?cm=var&var=hg19,4,111430927,G,T&fts=all	R386S	--	--	1																																			1	1		probably_damaging(0.911)	p.R386S	NM_001977	NP_001968		deleterious(0)	1	AMPE_HUMAN	ENPEP	HGNC	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)			5	1500	+		Hepatocellular(203;0.217)	UPI000013D5C6	386			Extracellular (Potential).		SNV	ENPEP,missense_variant,p.Arg386Ser,ENST00000265162,NM_001977.3;RP11-380D23.1,downstream_gene_variant,,ENST00000503998,;ENPEP,downstream_gene_variant,,ENST00000510961,;ENPEP,upstream_gene_variant,,ENST00000509344,;	uc003iab.3	c.1158G>T	1500/6943	2	2			c.1158G>T						4	SNP	c.(1156-1158)AGG>AGT	48	48			skin(3)|ovary(1)|breast(1)	5	Broad	glutamyl aminopeptidase		L-Glutamic Acid(DB00142)	111430927		0.453	ENSG00000138792	5043	g.chr4:111430927G>T	cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding							12.308022	KEEP	8	11	0.421052632	57	76	8	11	0.421052632	32.608113	57	76	0.106061	1	0	0	0	0	1	0	0	0	--	--		0	T				213	GBM-28-2513-TP	p.R386S	G	ACCAACAGAGGGTGGCCACTG	NM_001977	NP_001968	111430927	Q07075	AMPE_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	5	1500	+	T	T		Hepatocellular(203;0.217)	Missense_Mutation	386			Extracellular (Potential).			
ENPEP	2028		GRCh37	4	111397732	111397732	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000265162.5:c.162G>A	p.Ala54=	p.A54=	ENST00000265162	NM_001977.3	54	gcG/gcA	0																																																																																																																																																																																																																																												
ENPP1	5167	broad.mit.edu	GRCh37	6	132203516	132203516	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0174-01	TCGA-06-0174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360971.2:c.2132G>C	p.Cys711Ser	p.C711S	ENST00000360971	NM_006208.2	711	tGt/tCt	0			1			C	C/S	uc011ecf.1	protein_coding	YES	CCDS5150.2			2132/2778									upper_aerodigestive_tract(2)|ovary(2)	4	c.(2131-2133)TGT>TCT			Gene3D:1g8tA00,Pfam_domain:PF01223,hmmpanther:PTHR10151,hmmpanther:PTHR10151:SF64,SMART_domains:SM00477,SMART_domains:SM00892,Superfamily_domains:SSF54060	ectonucleotide pyrophosphatase/phosphodiesterase	Amifostine(DB01143)|Ribavirin(DB00811)			ENSP00000354238		21/25	8.24E-06				0.000151				rs774931329,COSM3410589	21/25	.		ENST00000360971	Transcript	1		3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	ENSG00000197594	g.chr6:132203516G>C	3356			MODERATE		3.04	medium	getma.org/?cm=msa&ty=f&p=ENPP1_HUMAN&rb=675&re=906&var=C711S	getma.org/pdb.php?prot=ENPP1_HUMAN&from=675&to=906&var=C711S	getma.org/?cm=var&var=hg19,6,132203516,G,C&fts=all	C711S	--	--	1																																			0,1	1		probably_damaging(0.982)	p.C711S	NM_006208	NP_006199		deleterious(0.01)	0,1	ENPP1_HUMAN	ENPP1	HGNC	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Q9NS95_HUMAN		21	2152	+	Breast(56;0.0505)		UPI00001303F0	711			Nuclease.|Extracellular (Potential).		SNV	ENPP1,missense_variant,p.Cys711Ser,ENST00000360971,NM_006208.2;ENPP1,3_prime_UTR_variant,,ENST00000513998,;ENPP1,downstream_gene_variant,,ENST00000459624,;	uc011ecf.1	c.2132G>C	2152/7442	3	3			c.2132G>C						6	SNP	c.(2131-2133)TGT>TCT	63	63			upper_aerodigestive_tract(2)|ovary(2)	4	Broad	ectonucleotide pyrophosphatase/phosphodiesterase		Amifostine(DB01143)|Ribavirin(DB00811)	132203516		0.383	ENSG00000197594	5044	g.chr6:132203516G>C	3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	Colon(104;336 1535 5856 11019 33782)			Colon(104;336 1535 5856 11019 33782)			-26.507573	KEEP	6	2	-1	90	90	6	2	-1	14.531824	90	90	0.034483	1	0	0	0	0	1	0	0	0	--	--		0	C				37	GBM-06-0174-TP	p.C711S	G	TTCTCCAACTGTCTGTACCAG	NM_006208	NP_006199	132203516	P22413	ENPP1_HUMAN	0		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	21	2152	+	C	C	Breast(56;0.0505)		Missense_Mutation	711			Nuclease.|Extracellular (Potential).			
ENPP2	5168	broad.mit.edu	GRCh37	8	120569830	120569830	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0686-01	TCGA-06-0686-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259486.6:c.2679G>A	p.Lys893=	p.K893=	ENST00000259486	NM_006209.4	893	aaG/aaA	0			1			T	K	uc003yot.1	protein_coding		CCDS34936.1			2523/2592									ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7	c.(2521-2523)AAG>AAA			Gene3D:1g8tA00,Pfam_domain:PF01223,SMART_domains:SM00892,SMART_domains:SM00477,Superfamily_domains:SSF54060	autotaxin isoform 2 preproprotein				ENSP00000075322		25/25									COSM2151552,COSM2151553	25/25	.		ENST00000075322	Transcript			cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	ENSG00000136960	g.chr8:120569830C>T	3357			LOW								--	--	1																																		ENPP2_uc011lic.1_Silent_p.K379K|ENPP2_uc003yor.1_Silent_p.K476K|ENPP2_uc003yos.1_Silent_p.K893K|ENPP2_uc010mdd.1_Silent_p.K866K	1,1				p.K841K	NM_001040092	NP_001035181			1,1	ENPP2_HUMAN	ENPP2	HGNC	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)				25	2609	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		UPI000013D05C	841			Required for secretion (By similarity).		SNV	ENPP2,synonymous_variant,p.=,ENST00000427067,;ENPP2,synonymous_variant,p.=,ENST00000259486,NM_006209.4;ENPP2,synonymous_variant,p.=,ENST00000522826,NM_001130863.2;ENPP2,synonymous_variant,p.=,ENST00000075322,NM_001040092.2;ENPP2,synonymous_variant,p.=,ENST00000522167,;ENPP2,non_coding_transcript_exon_variant,,ENST00000523861,;	uc003yot.1	c.2523G>A	2582/2651	2	2			c.2523G>A						8	SNP	c.(2521-2523)AAG>AAA	24	24			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7	Broad	autotaxin isoform 2 preproprotein			120569830		0.468	ENSG00000136960	5045	g.chr8:120569830C>T	cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	Melanoma(20;305 879 2501 4818 31020)			Melanoma(20;305 879 2501 4818 31020)			134.524189	KEEP	39	17	-1	63	25	39	17	-1	135.393784	63	25	0.40367	1	0	0	0	0	0	0	1	0	--	--		0	T			ENPP2_uc011lic.1_Silent_p.K379K|ENPP2_uc003yor.1_Silent_p.K476K|ENPP2_uc003yos.1_Silent_p.K893K|ENPP2_uc010mdd.1_Silent_p.K866K	64	GBM-06-0686-TP	p.K841K	C	TGCGGCTGGTCTTTCGGAAGA	NM_001040092	NP_001035181	120569830	Q13822	ENPP2_HUMAN	0	STAD - Stomach adenocarcinoma(47;0.00185)		25	2609	-	T	T	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		Silent	841			Required for secretion (By similarity).			
ENPP2	5168	broad.mit.edu	GRCh37	8	120569920	120569920	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0744-01	TCGA-06-0744-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259486.6:c.2589C>T	p.Asp863=	p.D863=	ENST00000259486	NM_006209.4	863	gaC/gaT	0			1			A	D	uc003yot.1	protein_coding		CCDS34936.1			2433/2592									ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7	c.(2431-2433)GAC>GAT			Low_complexity_(Seg):seg,Gene3D:1g8tA00,Pfam_domain:PF01223,SMART_domains:SM00892,SMART_domains:SM00477,Superfamily_domains:SSF54060	autotaxin isoform 2 preproprotein				ENSP00000075322		25/25	3.30E-05		0.000174	0.000233					rs746246253,COSM3412715,COSM3412716	25/25	.		ENST00000075322	Transcript			cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	ENSG00000136960	g.chr8:120569920G>A	3357			LOW								--	--	1																																		ENPP2_uc011lic.1_Silent_p.D349D|ENPP2_uc003yor.1_Silent_p.D446D|ENPP2_uc003yos.1_Silent_p.D863D|ENPP2_uc010mdd.1_Silent_p.D836D	0,1,1				p.D811D	NM_001040092	NP_001035181			0,1,1	ENPP2_HUMAN	ENPP2	HGNC	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)				25	2519	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		UPI000013D05C	811					SNV	ENPP2,synonymous_variant,p.=,ENST00000427067,;ENPP2,synonymous_variant,p.=,ENST00000259486,NM_006209.4;ENPP2,synonymous_variant,p.=,ENST00000522826,NM_001130863.2;ENPP2,synonymous_variant,p.=,ENST00000075322,NM_001040092.2;ENPP2,synonymous_variant,p.=,ENST00000522167,;ENPP2,non_coding_transcript_exon_variant,,ENST00000523861,;	uc003yot.1	c.2433C>T	2492/2651	2	2			c.2433C>T						8	SNP	c.(2431-2433)GAC>GAT	26	26			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7	Broad	autotaxin isoform 2 preproprotein			120569920		0.453	ENSG00000136960	5045	g.chr8:120569920G>A	cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	Melanoma(20;305 879 2501 4818 31020)			Melanoma(20;305 879 2501 4818 31020)			-28.766234	KEEP	3	3	-1	109	58	3	3	-1	8.881448	109	58	0.031847	1	0	0	0	0	0	0	1	0	--	--		0	A			ENPP2_uc011lic.1_Silent_p.D349D|ENPP2_uc003yor.1_Silent_p.D446D|ENPP2_uc003yos.1_Silent_p.D863D|ENPP2_uc010mdd.1_Silent_p.D836D	66	GBM-06-0744-TP	p.D811D	G	ATTTTGATTCGTCCTCTGAGC	NM_001040092	NP_001035181	120569920	Q13822	ENPP2_HUMAN	0	STAD - Stomach adenocarcinoma(47;0.00185)		25	2519	-	A	A	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		Silent	811						
ENPP2	5168	broad.mit.edu	GRCh37	8	120628516	120628516	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5412-01	TCGA-06-5412-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259486.6:c.766G>A	p.Gly256Arg	p.G256R	ENST00000259486	NM_006209.4	256	Gga/Aga	0			1			T	G/R	uc003yot.1	protein_coding		CCDS34936.1			766/2592									ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7	c.(766-768)GGA>AGA			hmmpanther:PTHR10151,hmmpanther:PTHR10151:SF21,Gene3D:3.40.720.10,Pfam_domain:PF01663,Superfamily_domains:SSF53649	autotaxin isoform 2 preproprotein				ENSP00000075322		25-Aug									COSM3412717,COSM3412718	25-Aug	.		ENST00000075322	Transcript			cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	ENSG00000136960	g.chr8:120628516C>T	3357			MODERATE		1.885	low	getma.org/?cm=msa&ty=f&p=ENPP2_HUMAN&rb=166&re=287&var=G256R	getma.org/pdb.php?prot=ENPP2_HUMAN&from=166&to=287&var=G256R	getma.org/?cm=var&var=hg19,8,120628516,C,T&fts=all	G256R	--	--	1																																		ENPP2_uc003yos.1_Missense_Mutation_p.G256R|ENPP2_uc010mdd.1_Missense_Mutation_p.G256R	1,1			probably_damaging(0.999)	p.G256R	NM_001040092	NP_001035181		deleterious(0.03)	1,1	ENPP2_HUMAN	ENPP2	HGNC	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)				8	852	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		UPI000013D05C	256					SNV	ENPP2,missense_variant,p.Gly252Arg,ENST00000427067,;ENPP2,missense_variant,p.Gly256Arg,ENST00000259486,NM_006209.4;ENPP2,missense_variant,p.Gly256Arg,ENST00000522826,NM_001130863.2;ENPP2,missense_variant,p.Gly256Arg,ENST00000075322,NM_001040092.2;ENPP2,missense_variant,p.Gly238Arg,ENST00000520066,;ENPP2,3_prime_UTR_variant,,ENST00000518958,;RP11-99I9.2,downstream_gene_variant,,ENST00000519781,;	uc003yot.1	c.766G>A	825/2651	2	2			c.766G>A						8	SNP	c.(766-768)GGA>AGA	32	32			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7	Broad	autotaxin isoform 2 preproprotein			120628516		0.378	ENSG00000136960	5045	g.chr8:120628516C>T	cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	Melanoma(20;305 879 2501 4818 31020)			Melanoma(20;305 879 2501 4818 31020)			13.592859	KEEP	5	6	-1	42	40	5	6	-1	24.344728	42	40	0.126582	1	0	0	0	0	1	0	0	0	--	--		0	T			ENPP2_uc003yos.1_Missense_Mutation_p.G256R|ENPP2_uc010mdd.1_Missense_Mutation_p.G256R	95	GBM-06-5412-TP	p.G256R	C	GGTTGACCTCCCCACCATCTA	NM_001040092	NP_001035181	120628516	Q13822	ENPP2_HUMAN	0	STAD - Stomach adenocarcinoma(47;0.00185)		8	852	-	T	T	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		Missense_Mutation	256						
ENPP2	0	broad.mit.edu	GRCh37	8	120598445	120598445	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2619-01	TCGA-19-2619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000075322.6:c.1348C>T	p.Arg450Cys	p.R450C	ENST00000075322	NM_001040092.2	450	Cgc/Tgc	0			1			A	R/C	uc003yot.1	protein_coding		CCDS34936.1			1348/2592									ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7	c.(1348-1350)CGC>TGC			hmmpanther:PTHR10151,hmmpanther:PTHR10151:SF21,Pfam_domain:PF01663,Superfamily_domains:SSF53649	autotaxin isoform 2 preproprotein				ENSP00000075322		15/25									COSM2156170,COSM2156171	15/25	.		ENST00000075322	Transcript			cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	ENSG00000136960	g.chr8:120598445G>A	3357			MODERATE		1.81	low	getma.org/?cm=msa&ty=f&p=ENPP2_HUMAN&rb=278&re=478&var=R450C	getma.org/pdb.php?prot=ENPP2_HUMAN&from=278&to=478&var=R450C	getma.org/?cm=var&var=hg19,8,120598445,G,A&fts=all	R450C	--	--	1																																		ENPP2_uc011lic.1_5'Flank|ENPP2_uc003yor.1_Missense_Mutation_p.R89C|ENPP2_uc003yos.1_Missense_Mutation_p.R502C|ENPP2_uc010mdd.1_Missense_Mutation_p.R450C	1,1			probably_damaging(0.996)	p.R450C	NM_001040092	NP_001035181		deleterious(0)	1,1	ENPP2_HUMAN	ENPP2	HGNC	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)				15	1434	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		UPI000013D05C	450					SNV	ENPP2,missense_variant,p.Arg446Cys,ENST00000427067,;ENPP2,missense_variant,p.Arg502Cys,ENST00000259486,NM_006209.4;ENPP2,missense_variant,p.Arg450Cys,ENST00000522826,NM_001130863.2;ENPP2,missense_variant,p.Arg450Cys,ENST00000075322,NM_001040092.2;ENPP2,missense_variant,p.Arg89Cys,ENST00000522167,;	uc003yot.1	c.1348C>T	1407/2651	2	2			c.1348C>T						8	SNP	c.(1348-1350)CGC>TGC	41	41			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7	Broad	autotaxin isoform 2 preproprotein			120598445		0.413	ENSG00000136960	5045	g.chr8:120598445G>A	cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	Melanoma(20;305 879 2501 4818 31020)			Melanoma(20;305 879 2501 4818 31020)			190.621819	KEEP	42	26	-1	51	43	42	26	-1	191.285856	51	43	0.427586	1	0	0	0	0	1	0	0	0	--	--		0	A			ENPP2_uc011lic.1_5'Flank|ENPP2_uc003yor.1_Missense_Mutation_p.R89C|ENPP2_uc003yos.1_Missense_Mutation_p.R502C|ENPP2_uc010mdd.1_Missense_Mutation_p.R450C	161	GBM-19-2619-TP	p.R450C	G	TGCCATCTGCGTTCCACCAAT	NM_001040092	NP_001035181	120598445	Q13822	ENPP2_HUMAN	0	STAD - Stomach adenocarcinoma(47;0.00185)		15	1434	-	A	A	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		Missense_Mutation	450						
ENPP2	0	broad.mit.edu	GRCh37	8	120629759	120629759	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01	TCGA-32-1970-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000075322.6:c.524G>A	p.Arg175His	p.R175H	ENST00000075322	NM_001040092.2	175	cGt/cAt	0			1			T	R/H	uc003yot.1	protein_coding		CCDS34936.1			524/2592									ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7	c.(523-525)CGT>CAT			hmmpanther:PTHR10151,hmmpanther:PTHR10151:SF21,Gene3D:3.40.720.10,Pfam_domain:PF01663,Superfamily_domains:SSF53649	autotaxin isoform 2 preproprotein				ENSP00000075322		25-Jun	8.24E-06					1.56E-05			rs776304212,COSM3412719,COSM3412720	25-Jun	.		ENST00000075322	Transcript			cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	ENSG00000136960	g.chr8:120629759C>T	3357			MODERATE		2.055	medium	getma.org/?cm=msa&ty=f&p=ENPP2_HUMAN&rb=166&re=287&var=R175H	getma.org/pdb.php?prot=ENPP2_HUMAN&from=166&to=287&var=R175H	getma.org/?cm=var&var=hg19,8,120629759,C,T&fts=all	R175H	--	--	1																																		ENPP2_uc003yos.1_Missense_Mutation_p.R175H|ENPP2_uc010mdd.1_Missense_Mutation_p.R175H	0,1,1			probably_damaging(0.999)	p.R175H	NM_001040092	NP_001035181		deleterious(0)	0,1,1	ENPP2_HUMAN	ENPP2	HGNC	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)				6	610	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		UPI000013D05C	175					SNV	ENPP2,missense_variant,p.Arg171His,ENST00000427067,;ENPP2,missense_variant,p.Arg175His,ENST00000259486,NM_006209.4;ENPP2,missense_variant,p.Arg175His,ENST00000522826,NM_001130863.2;ENPP2,missense_variant,p.Arg175His,ENST00000075322,NM_001040092.2;ENPP2,missense_variant,p.Arg157His,ENST00000520066,;ENPP2,3_prime_UTR_variant,,ENST00000518958,;RP11-99I9.2,downstream_gene_variant,,ENST00000519781,;	uc003yot.1	c.524G>A	583/2651	2	2			c.524G>A						8	SNP	c.(523-525)CGT>CAT	25	25			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7	Broad	autotaxin isoform 2 preproprotein			120629759		0.373	ENSG00000136960	5045	g.chr8:120629759C>T	cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	Melanoma(20;305 879 2501 4818 31020)			Melanoma(20;305 879 2501 4818 31020)			69.825222	KEEP	19	9	-1	23	11	19	9	-1	69.894068	23	11	0.46	1	0	0	0	0	1	0	0	0	--	--		0	T			ENPP2_uc003yos.1_Missense_Mutation_p.R175H|ENPP2_uc010mdd.1_Missense_Mutation_p.R175H	228	GBM-32-1970-TP	p.R175H	C	GTATGATGCACGGAAGCCATC	NM_001040092	NP_001035181	120629759	Q13822	ENPP2_HUMAN	0	STAD - Stomach adenocarcinoma(47;0.00185)		6	610	-	T	T	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		Missense_Mutation	175						
ENPP2	0	broad.mit.edu	GRCh37	8	120629796	120629796	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000075322.6:c.487C>T	p.Arg163Cys	p.R163C	ENST00000075322	NM_001040092.2	163	Cgc/Tgc	0			1			A	R/C	uc003yot.1	protein_coding		CCDS34936.1			487/2592									ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7	c.(487-489)CGC>TGC			hmmpanther:PTHR10151,hmmpanther:PTHR10151:SF21,Gene3D:3.40.720.10,Superfamily_domains:SSF53649	autotaxin isoform 2 preproprotein				ENSP00000075322		25-Jun	4.94E-05		9.10E-05	0.000503		1.63E-05			rs767465276,COSM1454519,COSM1454520	25-Jun	common_variant		ENST00000075322	Transcript			cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	ENSG00000136960	g.chr8:120629796G>A	3357			MODERATE		2.11	medium	getma.org/?cm=msa&ty=f&p=ENPP2_HUMAN&rb=114&re=195&var=R163C	getma.org/pdb.php?prot=ENPP2_HUMAN&from=144&to=165&var=R163C	getma.org/?cm=var&var=hg19,8,120629796,G,A&fts=all	R163C	--	--	1																																		ENPP2_uc003yos.1_Missense_Mutation_p.R163C|ENPP2_uc010mdd.1_Missense_Mutation_p.R163C	0,1,1			possibly_damaging(0.862)	p.R163C	NM_001040092	NP_001035181		tolerated(0.05)	0,1,1	ENPP2_HUMAN	ENPP2	HGNC	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)				6	573	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		UPI000013D05C	163					SNV	ENPP2,missense_variant,p.Arg159Cys,ENST00000427067,;ENPP2,missense_variant,p.Arg163Cys,ENST00000259486,NM_006209.4;ENPP2,missense_variant,p.Arg163Cys,ENST00000522826,NM_001130863.2;ENPP2,missense_variant,p.Arg163Cys,ENST00000075322,NM_001040092.2;ENPP2,missense_variant,p.Arg145Cys,ENST00000520066,;ENPP2,3_prime_UTR_variant,,ENST00000518958,;RP11-99I9.2,downstream_gene_variant,,ENST00000519781,;	uc003yot.1	c.487C>T	546/2651	2	2			c.487C>T						8	SNP	c.(487-489)CGC>TGC	25	25			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7	Broad	autotaxin isoform 2 preproprotein			120629796		0.368	ENSG00000136960	5045	g.chr8:120629796G>A	cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	Melanoma(20;305 879 2501 4818 31020)			Melanoma(20;305 879 2501 4818 31020)			23.86299	KEEP	5	4	-1	16	12	5	4	-1	25.731269	16	12	0.257143	1	0	0	0	0	1	0	0	0	--	--		0	A			ENPP2_uc003yos.1_Missense_Mutation_p.R163C|ENPP2_uc010mdd.1_Missense_Mutation_p.R163C	232	GBM-32-1982-TP	p.R163C	G	AATGGAGGGCGAACAAACCTT	NM_001040092	NP_001035181	120629796	Q13822	ENPP2_HUMAN	0	STAD - Stomach adenocarcinoma(47;0.00185)		6	573	-	A	A	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		Missense_Mutation	163						
ENPP4	22875	broad.mit.edu	GRCh37	6	46107513	46107513	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6388-01	TCGA-06-6388-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321037.4:c.193G>A	p.Val65Ile	p.V65I	ENST00000321037	NM_014936.4	65	Gtt/Att	0			1			A	V/I	uc003oxy.2	protein_coding	YES	CCDS34468.1			193/1362									ovary(3)|skin(1)	4	c.(193-195)GTT>ATT			hmmpanther:PTHR10151,hmmpanther:PTHR10151:SF16,Gene3D:3.40.720.10,Pfam_domain:PF01663,Superfamily_domains:SSF53649	ectonucleotide pyrophosphatase/phosphodiesterase				ENSP00000318066		4-Feb									COSM3411147	4-Feb	.		ENST00000321037	Transcript				integral to membrane	hydrolase activity	ENSG00000001561	g.chr6:46107513G>A	3359			MODERATE		1.495	low	getma.org/?cm=msa&ty=f&p=ENPP4_HUMAN&rb=28&re=339&var=V65I	getma.org/pdb.php?prot=ENPP4_HUMAN&from=28&to=339&var=V65I	getma.org/?cm=var&var=hg19,6,46107513,G,A&fts=all	V65I	--	--	1																																			1	1		benign(0.093)	p.V65I	NM_014936	NP_055751		tolerated(0.37)	1	ENPP4_HUMAN	ENPP4	HGNC	Q9Y6X5	ENPP4_HUMAN					2	452	+			UPI0000048E43	65			Extracellular (Potential).		SNV	ENPP4,missense_variant,p.Val65Ile,ENST00000321037,NM_014936.4;	uc003oxy.2	c.193G>A	423/4651	2	2			c.193G>A						6	SNP	c.(193-195)GTT>ATT	45	45			ovary(3)|skin(1)	4	Broad	ectonucleotide pyrophosphatase/phosphodiesterase			46107513		0.363	ENSG00000001561	5047	g.chr6:46107513G>A		integral to membrane	hydrolase activity							50.174382	KEEP	14	6	-1	22	28	14	6	-1	51.779587	22	28	0.327869	1	0	0	0	0	1	0	0	0	--	--		0	A				104	GBM-06-6388-TP	p.V65I	G	TGTTAAAAATGTTTTTATCAC	NM_014936	NP_055751	46107513	Q9Y6X5	ENPP4_HUMAN	0			2	452	+	A	A			Missense_Mutation	65			Extracellular (Potential).			
ENPP4	0	broad.mit.edu	GRCh37	6	46107333	46107333	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-12-5295-01	TCGA-12-5295-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321037.4:c.13G>C	p.Val5Leu	p.V5L	ENST00000321037	NM_014936.4	5	Gta/Cta	0			1			C	V/L	uc003oxy.2	protein_coding	YES	CCDS34468.1			13/1362									ovary(3)|skin(1)	4	c.(13-15)GTA>CTA			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10151,hmmpanther:PTHR10151:SF16,Gene3D:3.40.720.10	ectonucleotide pyrophosphatase/phosphodiesterase				ENSP00000318066		4-Feb									COSM3411146	4-Feb	.		ENST00000321037	Transcript				integral to membrane	hydrolase activity	ENSG00000001561	g.chr6:46107333G>C	3359			MODERATE		-0.375	neutral	getma.org/?cm=msa&ty=f&p=ENPP4_HUMAN&rb=1&re=57&var=V5L	NA	getma.org/?cm=var&var=hg19,6,46107333,G,C&fts=all	V5L	--	--	1																																			1	1		benign(0)	p.V5L	NM_014936	NP_055751		tolerated(0.93)	1	ENPP4_HUMAN	ENPP4	HGNC	Q9Y6X5	ENPP4_HUMAN					2	272	+			UPI0000048E43	5					SNV	ENPP4,missense_variant,p.Val5Leu,ENST00000321037,NM_014936.4;	uc003oxy.2	c.13G>C	243/4651	3	3			c.13G>C						6	SNP	c.(13-15)GTA>CTA	6	6			ovary(3)|skin(1)	4	Broad	ectonucleotide pyrophosphatase/phosphodiesterase			46107333		0.343	ENSG00000001561	5047	g.chr6:46107333G>C		integral to membrane	hydrolase activity							201.684744	KEEP	33	31	-1	53	56	33	31	-1	203.908584	53	56	0.373418	1	0	0	0	0	1	0	0	0	--	--		0	C				129	GBM-12-5295-TP	p.V5L	G	GAAGTTATTAGTAATACTTTT	NM_014936	NP_055751	46107333	Q9Y6X5	ENPP4_HUMAN	0			2	272	+	C	C			Missense_Mutation	5						
ENPP4	0	broad.mit.edu	GRCh37	6	46111073	46111073	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-4211-01	TCGA-32-4211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321037.4:c.1058G>C	p.Gly353Ala	p.G353A	ENST00000321037	NM_014936.4	353	gGa/gCa	0			1			C	G/A	uc003oxy.2	protein_coding	YES	CCDS34468.1			1058/1362									ovary(3)|skin(1)	4	c.(1057-1059)GGA>GCA			hmmpanther:PTHR10151,hmmpanther:PTHR10151:SF16,Superfamily_domains:SSF53649	ectonucleotide pyrophosphatase/phosphodiesterase				ENSP00000318066		4-Apr									COSM2157366	4-Apr	.		ENST00000321037	Transcript				integral to membrane	hydrolase activity	ENSG00000001561	g.chr6:46111073G>C	3359			MODERATE		3.9	high	getma.org/?cm=msa&ty=f&p=ENPP4_HUMAN&rb=340&re=401&var=G353A	getma.org/pdb.php?prot=ENPP4_HUMAN&from=340&to=401&var=G353A	getma.org/?cm=var&var=hg19,6,46111073,G,C&fts=all	G353A	--	--	1																																			1	1		probably_damaging(1)	p.G353A	NM_014936	NP_055751		deleterious(0)	1	ENPP4_HUMAN	ENPP4	HGNC	Q9Y6X5	ENPP4_HUMAN					4	1317	+			UPI0000048E43	353			Extracellular (Potential).		SNV	ENPP4,missense_variant,p.Gly353Ala,ENST00000321037,NM_014936.4;	uc003oxy.2	c.1058G>C	1288/4651	3	3			c.1058G>C						6	SNP	c.(1057-1059)GGA>GCA	62	62			ovary(3)|skin(1)	4	Broad	ectonucleotide pyrophosphatase/phosphodiesterase			46111073		0.388	ENSG00000001561	5047	g.chr6:46111073G>C		integral to membrane	hydrolase activity							180.898088	KEEP	23	40	-1	113	122	23	40	-1	201.560297	113	122	0.213235	1	0	0	0	0	1	0	0	0	--	--		0	C				246	GBM-32-4211-TP	p.G353A	G	GCTGCCCACGGACCTGCATTT	NM_014936	NP_055751	46111073	Q9Y6X5	ENPP4_HUMAN	0			4	1317	+	C	C			Missense_Mutation	353			Extracellular (Potential).			
ENPP5	0	broad.mit.edu	GRCh37	6	46135819	46135819	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01	TCGA-19-2620-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000230565.3:c.181G>A	p.Val61Met	p.V61M	ENST00000230565	NM_021572.4	61	Gtg/Atg	0			1			T	V/M	uc003oxz.1	protein_coding		CCDS4915.1			181/1434										0	c.(181-183)GTG>ATG			hmmpanther:PTHR10151:SF17,hmmpanther:PTHR10151,Gene3D:3.40.720.10,Pfam_domain:PF01663,Superfamily_domains:SSF53649	ectonucleotide pyrophosphatase/phosphodiesterase				ENSP00000230565		4-Feb	8.24E-06			0.000116					rs751242857,COSM3352944	4-Feb	.		ENST00000230565	Transcript				extracellular region|integral to membrane	hydrolase activity	ENSG00000112796	g.chr6:46135819C>T	13717			MODERATE		2.61	medium	getma.org/?cm=msa&ty=f&p=ENPP5_HUMAN&rb=30&re=342&var=V61M	getma.org/pdb.php?prot=ENPP5_HUMAN&from=30&to=342&var=V61M	getma.org/?cm=var&var=hg19,6,46135819,C,T&fts=all	V61M	--	--	1																																		ENPP5_uc003oya.1_Missense_Mutation_p.V61M|ENPP5_uc011dvz.1_Intron|ENPP5_uc010jzc.1_Missense_Mutation_p.V61M	0,1			probably_damaging(0.978)	p.V61M	NM_021572	NP_067547		deleterious(0)	0,1	ENPP5_HUMAN	ENPP5	HGNC	Q9UJA9	ENPP5_HUMAN					2	389	-			UPI0000072511	61					SNV	ENPP5,missense_variant,p.Val61Met,ENST00000371383,;ENPP5,missense_variant,p.Val61Met,ENST00000230565,NM_021572.4;ENPP5,upstream_gene_variant,,ENST00000492313,;	uc003oxz.1	c.181G>A	380/2544	1	1			c.181G>A						6	SNP	c.(181-183)GTG>ATG	5	5				0	Broad	ectonucleotide pyrophosphatase/phosphodiesterase			46135819		0.348	ENSG00000112796	5048	g.chr6:46135819C>T		extracellular region|integral to membrane	hydrolase activity							47.624431	KEEP	8	10	-1	27	27	8	10	-1	50.694979	27	27	0.272727	1	0	0	0	0	1	0	0	0	--	--		0	T			ENPP5_uc003oya.1_Missense_Mutation_p.V61M|ENPP5_uc011dvz.1_Intron|ENPP5_uc010jzc.1_Missense_Mutation_p.V61M	162	GBM-19-2620-TP	p.V61M	C	ACTTGCTTCACGTGAACACCA	NM_021572	NP_067547	46135819	Q9UJA9	ENPP5_HUMAN	0			2	389	-	T	T			Missense_Mutation	61						
ENPP7	0	broad.mit.edu	GRCh37	17	77710991	77710991	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1832-01	TCGA-27-1832-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328313.5:c.1178G>A	p.Arg393Gln	p.R393Q	ENST00000328313	NM_178543.3	393	cGg/cAg	0			1			A	R/Q	uc002jxa.2	protein_coding	YES	CCDS11763.1			1178/1377									central_nervous_system(2)|ovary(1)	3	c.(1177-1179)CGG>CAG			hmmpanther:PTHR10151,hmmpanther:PTHR10151:SF63,Superfamily_domains:SSF53649	ectonucleotide pyrophosphatase/phosphodiesterase				ENSP00000332656		6-Apr	4.12E-05					4.62E-05		0.000122	rs782232450,COSM3403336	6-Apr	.		ENST00000328313	Transcript			negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	ENSG00000182156	g.chr17:77710991G>A	23764			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=ENPP7_HUMAN&rb=357&re=458&var=R393Q	getma.org/pdb.php?prot=ENPP7_HUMAN&from=357&to=458&var=R393Q	getma.org/?cm=var&var=hg19,17,77710991,G,A&fts=all	R393Q	--	--	1																																			0,1	1		benign(0.002)	p.R393Q	NM_178543	NP_848638		tolerated(0.43)	0,1	ENPP7_HUMAN	ENPP7	HGNC	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		I3L3G5_HUMAN		4	1198	+			UPI00001983C8	393					SNV	ENPP7,missense_variant,p.Arg393Gln,ENST00000328313,NM_178543.3;ENPP7,missense_variant,p.Arg94Gln,ENST00000576512,;	uc002jxa.2	c.1178G>A	1399/2043	2	2			c.1178G>A						17	SNP	c.(1177-1179)CGG>CAG	21	21			central_nervous_system(2)|ovary(1)	3	Broad	ectonucleotide pyrophosphatase/phosphodiesterase			77710991		0.647	ENSG00000182156	5050	g.chr17:77710991G>A	negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity							28.427666	KEEP	8	8	-1	31	28	8	8	-1	33.883222	31	28	0.2	1	0	0	0	0	1	0	0	0	--	--		0	A				191	GBM-27-1832-TP	p.R393Q	G	CTCATGTGCCGGCTGCTGGGC	NM_178543	NP_848638	77710991	Q6UWV6	ENPP7_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		4	1198	+	A	A			Missense_Mutation	393						
ENPP7	0	broad.mit.edu	GRCh37	17	77705154	77705154	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs150916536		TCGA-27-1836-01	TCGA-27-1836-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328313.5:c.253G>A	p.Gly85Ser	p.G85S	ENST00000328313	NM_178543.3	85	Ggc/Agc	0	A:0		1			A	G/S	uc002jxa.2	protein_coding	YES	CCDS11763.1			253/1377									central_nervous_system(2)|ovary(1)	3	c.(253-255)GGC>AGC			Gene3D:3.40.720.10,Pfam_domain:PF01663,hmmpanther:PTHR10151,hmmpanther:PTHR10151:SF63,Superfamily_domains:SSF53649	ectonucleotide pyrophosphatase/phosphodiesterase			A:0.0002	ENSP00000332656		6-Jan	7.41E-05					0.000115		7.81E-05	rs150916536,COSM3403334	6-Jan	.		ENST00000328313	Transcript			negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	ENSG00000182156	g.chr17:77705154G>A	23764			MODERATE		3.915	high	getma.org/?cm=msa&ty=f&p=ENPP7_HUMAN&rb=33&re=356&var=G85S	getma.org/pdb.php?prot=ENPP7_HUMAN&from=33&to=356&var=G85S	getma.org/?cm=var&var=hg19,17,77705154,G,A&fts=all	G85S	--	--	1																																			0,1	1		probably_damaging(1)	p.G85S	NM_178543	NP_848638		deleterious(0.02)	0,1	ENPP7_HUMAN	ENPP7	HGNC	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		I3L3G5_HUMAN		1	273	+			UPI00001983C8	85					SNV	ENPP7,missense_variant,p.Gly85Ser,ENST00000328313,NM_178543.3;ENPP7,upstream_gene_variant,,ENST00000576512,;	uc002jxa.2	c.253G>A	474/2043	2	2			c.253G>A						17	SNP	c.(253-255)GGC>AGC	18	18			central_nervous_system(2)|ovary(1)	3	Broad	ectonucleotide pyrophosphatase/phosphodiesterase			77705154		0.647	ENSG00000182156	5050	g.chr17:77705154G>A	negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity							3.403143	KEEP	4	1	-1	21	16	4	1	-1	7.943407	21	16	0.103448	1	0	0	0	0	1	0	0	0	--	--		0	A				195	GBM-27-1836-TP	p.G85S	G	CCTGGTCACCGGTGAGTACTG	NM_178543	NP_848638	77705154	Q6UWV6	ENPP7_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		1	273	+	A	A			Missense_Mutation	85						
ENPP7	339221		GRCh37	17	77708908	77708908	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000328313.5:c.466C>T	p.Arg156Trp	p.R156W	ENST00000328313	NM_178543.3	156	Cgg/Tgg	0																																																																																																																																																																																																																																												
ENTHD1	0	broad.mit.edu	GRCh37	22	40283548	40283548	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01	TCGA-12-0692-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325157.6:c.205C>T	p.Arg69Cys	p.R69C	ENST00000325157	NM_152512.3	69	Cgc/Tgc	0			1			A	R/C	uc003ayg.2	protein_coding	YES	CCDS13998.1			205/1824									ovary(2)|skin(1)	3	c.(205-207)CGC>TGC			PROSITE_profiles:PS50942,hmmpanther:PTHR12276,hmmpanther:PTHR12276:SF51,Pfam_domain:PF01417,Gene3D:1.25.40.90,SMART_domains:SM00273,Superfamily_domains:SSF48464	ENTH domain containing 1				ENSP00000317431		7-Feb									COSM580230	7-Feb	.		ENST00000325157	Transcript						ENSG00000176177	g.chr22:40283548G>A	26352			MODERATE		4.365	high	getma.org/?cm=msa&ty=f&p=ENTD1_HUMAN&rb=14&re=137&var=R69C	getma.org/pdb.php?prot=ENTD1_HUMAN&from=14&to=137&var=R69C	getma.org/?cm=var&var=hg19,22,40283548,G,A&fts=all	R69C	--	--	1																																			1	1		probably_damaging(1)	p.R69C	NM_152512	NP_689725		deleterious(0)	1	ENTD1_HUMAN	ENTHD1	HGNC	Q8IYW4	ENTD1_HUMAN					2	456	-	Melanoma(58;0.0749)		UPI00000741D2	69			ENTH.		SNV	ENTHD1,missense_variant,p.Arg69Cys,ENST00000325157,NM_152512.3;	uc003ayg.2	c.205C>T	456/2710	1	1			c.205C>T						22	SNP	c.(205-207)CGC>TGC	51	51			ovary(2)|skin(1)	3	Broad	ENTH domain containing 1			40283548		0.403	ENSG00000176177	5052	g.chr22:40283548G>A										309.958205	KEEP	60	49	-1	94	60	60	49	-1	311.246646	94	60	0.421488	1	0	0	0	0	1	0	0	0	--	--		0	A				122	GBM-12-0692-TP	p.R69C	G	TACACGTGGCGCCAGTTCTTC	NM_152512	NP_689725	40283548	Q8IYW4	ENTD1_HUMAN	0			2	456	-	A	A	Melanoma(58;0.0749)		Missense_Mutation	69			ENTH.			
ENTHD1	0	broad.mit.edu	GRCh37	22	40283672	40283672	+	synonymous_variant	Silent	SNP	G	G	A	rs146928757		TCGA-41-3393-01	TCGA-41-3393-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325157.6:c.81C>T	p.Asn27=	p.N27=	ENST00000325157	NM_152512.3	27	aaC/aaT	0	A:0		1			A	N	uc003ayg.2	protein_coding	YES	CCDS13998.1			81/1824								p.N27N(1)	ovary(2)|skin(1)	3	c.(79-81)AAC>AAT			PROSITE_profiles:PS50942,hmmpanther:PTHR12276,hmmpanther:PTHR12276:SF51,Pfam_domain:PF01417,Gene3D:1.25.40.90,SMART_domains:SM00273,Superfamily_domains:SSF48464	ENTH domain containing 1			A:0.0006	ENSP00000317431		7-Feb	0.000124	9.70E-05				0.00015		0.000253	rs146928757,COSM81136	7-Feb	.		ENST00000325157	Transcript						ENSG00000176177	g.chr22:40283672G>A	26352			LOW								--	--	1																																			0,1	1			p.N27N	NM_152512	NP_689725			0,1	ENTD1_HUMAN	ENTHD1	HGNC	Q8IYW4	ENTD1_HUMAN					2	332	-	Melanoma(58;0.0749)		UPI00000741D2	27			ENTH.		SNV	ENTHD1,synonymous_variant,p.=,ENST00000325157,NM_152512.3;	uc003ayg.2	c.81C>T	332/2710	1	1			c.81C>T						22	SNP	c.(79-81)AAC>AAT	62	62		p.N27N(1)	ovary(2)|skin(1)	3	Broad	ENTH domain containing 1			40283672		0.398	ENSG00000176177	5052	g.chr22:40283672G>A										210.281526	KEEP	33	51	-1	85	103	33	51	-1	218.49635	85	103	0.308	1	0	0	0	0	0	0	1	0	--	--		0	A				255	GBM-41-3393-TP	p.N27N	G	CCCAAGGGTCGTTAGAAGTTG	NM_152512	NP_689725	40283672	Q8IYW4	ENTD1_HUMAN	0			2	332	-	A	A	Melanoma(58;0.0749)		Silent	27			ENTH.			
ENTPD1	0	broad.mit.edu	GRCh37	10	97607463	97607463	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A			TCGA-06-6701-01	TCGA-06-6701-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371205.4:c.1074G>A	p.Gly358=	p.G358=	ENST00000371205		358	ggG/ggA	0			1			A	G	uc001klh.3	protein_coding		CCDS7444.1			1074/1533									ovary(3)	3	c.(1072-1074)GGG>GGA			hmmpanther:PTHR11782:SF32,hmmpanther:PTHR11782,Pfam_domain:PF01150	ectonucleoside triphosphate diphosphohydrolase 1				ENSP00000360248		10-Jul									COSM3397329,COSM3397328	10-Jul	.		ENST00000371205	Transcript	1		cell adhesion	integral to plasma membrane	ATP binding	ENSG00000138185	g.chr10:97607463G>A	3363			LOW								--	--	1																																		ENTPD1_uc001kli.3_Silent_p.G365G|uc001klg.1_Intron|ENTPD1_uc010qoj.1_Silent_p.G370G|ENTPD1_uc010qok.1_Silent_p.G250G|ENTPD1_uc010qol.1_Silent_p.G250G|ENTPD1_uc010qom.1_Silent_p.G317G|ENTPD1_uc010qon.1_Silent_p.G220G|ENTPD1_uc009xva.2_Silent_p.G220G|ENTPD1_uc009xuz.2_RNA	1,1				p.G358G	NM_001776	NP_001767			1,1	ENTP1_HUMAN	ENTPD1	HGNC	P49961	ENTP1_HUMAN		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)			7	1398	+		Colorectal(252;0.0821)	UPI0000129FAD	358			Extracellular (Potential).		SNV	ENTPD1,splice_region_variant,p.=,ENST00000371203,NM_001164182.1,NM_001164179.1,NM_001776.5;ENTPD1,splice_region_variant,p.=,ENST00000371207,NM_001164178.1;ENTPD1,splice_region_variant,p.=,ENST00000539125,NM_001164183.1;ENTPD1,splice_region_variant,p.=,ENST00000543964,NM_001164181.1;ENTPD1,splice_region_variant,p.=,ENST00000453258,NM_001098175.1;ENTPD1,splice_region_variant,p.=,ENST00000371205,;ENTPD1-AS1,intron_variant,,ENST00000416301,;RP11-429G19.3,intron_variant,,ENST00000433113,;ENTPD1,downstream_gene_variant,,ENST00000490659,;ENTPD1,downstream_gene_variant,,ENST00000483213,;ENTPD1,downstream_gene_variant,,ENST00000494070,;ENTPD1,downstream_gene_variant,,ENST00000422161,;ENTPD1,downstream_gene_variant,,ENST00000371206,;	uc001klh.3	c.1074G>A	1357/2035	1	1			c.1074G>A						10	SNP	c.(1072-1074)GGG>GGA	54	54			ovary(3)	3	Broad	ectonucleoside triphosphate diphosphohydrolase 1			97607463		0.303	ENSG00000138185	5053	g.chr10:97607463G>A	cell adhesion	integral to plasma membrane	ATP binding							-10.08023	KEEP	6	6	-1	82	86	6	6	-1	20.299145	82	86	0.064935	1	0	0	0	0	0	0	1	0	--	--		0	A			ENTPD1_uc001kli.3_Silent_p.G365G|uc001klg.1_Intron|ENTPD1_uc010qoj.1_Silent_p.G370G|ENTPD1_uc010qok.1_Silent_p.G250G|ENTPD1_uc010qol.1_Silent_p.G250G|ENTPD1_uc010qom.1_Silent_p.G317G|ENTPD1_uc010qon.1_Silent_p.G220G|ENTPD1_uc009xva.2_Silent_p.G220G|ENTPD1_uc009xuz.2_RNA	115	GBM-06-6701-TP	p.G358G	G	GGGATTTTGGGGTAAGTTTGT	NM_001776	NP_001767	97607463	P49961	ENTP1_HUMAN	0		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)	7	1398	+	A	A		Colorectal(252;0.0821)	Silent	358			Extracellular (Potential).			
ENTPD1	953		GRCh37	10	97607421	97607421	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000371207.3:c.1068C>T	p.Ala356=	p.A356=	ENST00000371207	NM_001164178.1	356	gcC/gcT	0																																																																																																																																																																																																																																												
ENTPD3	0	broad.mit.edu	GRCh37	3	40457378	40457378	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301825.3:c.645G>A	p.Thr215=	p.T215=	ENST00000301825	NM_001248.2	215	acG/acA	0			1			A	T	uc003ckd.3	protein_coding	YES	CCDS2691.1			645/1590									ovary(1)	1	c.(643-645)ACG>ACA			hmmpanther:PTHR11782,hmmpanther:PTHR11782:SF38,Pfam_domain:PF01150	ectonucleoside triphosphate diphosphohydrolase				ENSP00000301825		11-Jul	8.24E-05		0.000521			3.01E-05		0.000122	rs768509981,COSM3408659	11-Jul	common_variant		ENST00000301825	Transcript				integral to membrane	ATP binding|hydrolase activity	ENSG00000168032	g.chr3:40457378G>A	3365			LOW								--	--	1																																		ENTPD3_uc010hhy.2_Silent_p.T215T|uc003cke.3_Intron	0,1	1			p.T215T	NM_001248	NP_001239			0,1	ENTP3_HUMAN	ENTPD3	HGNC	O75355	ENTP3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)			7	737	+			UPI000013E75E	215			Extracellular (Potential).		SNV	ENTPD3,synonymous_variant,p.=,ENST00000301825,NM_001248.2;ENTPD3,synonymous_variant,p.=,ENST00000456402,;ENTPD3,synonymous_variant,p.=,ENST00000445129,;ENTPD3-AS1,intron_variant,,ENST00000425156,;ENTPD3-AS1,intron_variant,,ENST00000452768,;ENTPD3-AS1,intron_variant,,ENST00000439293,;	uc003ckd.3	c.645G>A	763/2819	2	2			c.645G>A						3	SNP	c.(643-645)ACG>ACA	41	41			ovary(1)	1	Broad	ectonucleoside triphosphate diphosphohydrolase			40457378		0.537	ENSG00000168032	5055	g.chr3:40457378G>A		integral to membrane	ATP binding|hydrolase activity							142.355486	KEEP	29	21	-1	37	45	29	21	-1	143.71831	37	45	0.384615	1	0	0	0	0	0	0	1	0	--	--		0	A			ENTPD3_uc010hhy.2_Silent_p.T215T|uc003cke.3_Intron	249	GBM-32-5222-TP	p.T215T	G	TGGAAACCACGGGTGCCCTGG	NM_001248	NP_001239	40457378	O75355	ENTP3_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)	7	737	+	A	A			Silent	215			Extracellular (Potential).			
EOMES	8320	broad.mit.edu	GRCh37	3	27761789	27761789	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295743.4:c.909C>T	p.Asn303=	p.N303=	ENST00000295743	NM_005442.3	303	aaC/aaT	0			1			A	N	uc003cdx.2	protein_coding	YES	CCDS2646.1			909/2061									ovary(3)|breast(1)	4	c.(907-909)AAC>AAT			Gene3D:1h6fA00,Pfam_domain:PF00907,Prints_domain:PR00937,PROSITE_profiles:PS50252,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF13,SMART_domains:SM00425,Superfamily_domains:SSF49417	eomesodermin				ENSP00000295743		6-Feb									COSM2152158,COSM3408568	6-Feb	.		ENST00000295743	Transcript	1		CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000163508	g.chr3:27761789G>A	3372			LOW								--	--	1																																		EOMES_uc003cdy.3_Silent_p.N303N|EOMES_uc010hfn.2_Silent_p.N303N|EOMES_uc011axc.1_Silent_p.N8N	1,1	1			p.N303N	NM_005442	NP_005433			1,1	EOMES_HUMAN	EOMES	HGNC	O95936	EOMES_HUMAN					2	909	-			UPI000013E29D	303			T-box.		SNV	EOMES,synonymous_variant,p.=,ENST00000295743,NM_005442.3,NM_001278182.1;EOMES,synonymous_variant,p.=,ENST00000449599,;EOMES,synonymous_variant,p.=,ENST00000537516,NM_001278183.1;EOMES,non_coding_transcript_exon_variant,,ENST00000461503,;	uc003cdx.2	c.909C>T	1113/3386	2	2			c.909C>T						3	SNP	c.(907-909)AAC>AAT	45	45			ovary(3)|breast(1)	4	Broad	eomesodermin			27761789		0.532	ENSG00000163508	5062	g.chr3:27761789G>A	CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity							339.289411	KEEP	62	64	-1	71	76	62	64	-1	339.610774	71	76	0.461538	1	0	0	0	0	0	0	1	0	--	--		0	A			EOMES_uc003cdy.3_Silent_p.N303N|EOMES_uc010hfn.2_Silent_p.N303N|EOMES_uc011axc.1_Silent_p.N8N	73	GBM-06-0877-TP	p.N303N	G	GTCCGTTTATGTTGAAGCTCA	NM_005442	NP_005433	27761789	O95936	EOMES_HUMAN	0			2	909	-	A	A			Silent	303			T-box.			
EP300	2033	broad.mit.edu	GRCh37	22	41564740	41564740	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-02-2483-01	TCGA-02-2483-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263253.7:c.4041A>G	p.Gly1347=	p.G1347=	ENST00000263253	NM_001429.3	1347	ggA/ggG	0			1			G	G	uc003azl.3	protein_coding	YES	CCDS14010.1			4041/7245	T| N|F|Mis|O		MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64	c.(4039-4041)GGA>GGG			hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF4,Pfam_domain:PF08214	E1A binding protein p300				ENSP00000263253		25/31									COSM3748173	25/31	.	Rubinstein-Taybi_syndrome	ENST00000263253	Transcript	1		apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	ENSG00000100393	g.chr22:41564740A>G	3373			LOW								--	--	1																																			1	1			p.G1347G	NM_001429	NP_001420			1	EP300_HUMAN	EP300	HGNC	Q09472	EP300_HUMAN			B5A250_HUMAN		25	4436	+			UPI00001AE876	1347					SNV	EP300,synonymous_variant,p.=,ENST00000263253,NM_001429.3;RNU6-375P,downstream_gene_variant,,ENST00000517050,;RP1-85F18.6,downstream_gene_variant,,ENST00000415054,;	uc003azl.3	c.4041A>G	5260/9585	3	3			c.4041A>G	T| N|F|Mis|O		MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL	22	SNP	c.(4039-4041)GGA>GGG	64	64			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64	Broad	E1A binding protein p300			41564740	Rubinstein-Taybi_syndrome	0.433	ENSG00000100393	5063	g.chr22:41564740A>G	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			1103			1103	-15.359438	KEEP	5	4	-1	60	73	5	4	-1	12.228974	60	73	0.040984	1	0	0	0	0	0	0	1	0	--	--		0	G				6	GBM-02-2483-TP	p.G1347G	A	TGGACAGTGGAGAGATGGCAG	NM_001429	NP_001420	41564740	Q09472	EP300_HUMAN	0			25	4436	+	G	G			Silent	1347						
EP300	2033	broad.mit.edu	GRCh37	22	41564810	41564810	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0214-01	TCGA-06-0214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263253.7:c.4111C>T	p.Leu1371=	p.L1371=	ENST00000263253	NM_001429.3	1371	Ctg/Ttg	0			1			T	L	uc003azl.3	protein_coding	YES	CCDS14010.1			4111/7245	T| N|F|Mis|O		MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64	c.(4111-4113)CTG>TTG			hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF4,Pfam_domain:PF08214	E1A binding protein p300				ENSP00000263253		25/31									COSM3405689	25/31	.	Rubinstein-Taybi_syndrome	ENST00000263253	Transcript	1		apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	ENSG00000100393	g.chr22:41564810C>T	3373			LOW								--	--	1																																			1	1			p.L1371L	NM_001429	NP_001420			1	EP300_HUMAN	EP300	HGNC	Q09472	EP300_HUMAN			B5A250_HUMAN		25	4506	+			UPI00001AE876	1371					SNV	EP300,synonymous_variant,p.=,ENST00000263253,NM_001429.3;RNU6-375P,downstream_gene_variant,,ENST00000517050,;RP1-85F18.6,downstream_gene_variant,,ENST00000415054,;	uc003azl.3	c.4111C>T	5330/9585	2	2			c.4111C>T	T| N|F|Mis|O		MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL	22	SNP	c.(4111-4113)CTG>TTG	21	21			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64	Broad	E1A binding protein p300			41564810	Rubinstein-Taybi_syndrome	0.478	ENSG00000100393	5063	g.chr22:41564810C>T	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			1103			1103	-11.030271	KEEP	9	12	-1	139	165	9	12	-1	47.435135	139	165	0.064189	1	0	0	0	0	0	0	1	0	--	--		0	T				50	GBM-06-0214-TP	p.L1371L	C	TGGTGTTGACCTGTGCTTCTT	NM_001429	NP_001420	41564810	Q09472	EP300_HUMAN	0			25	4506	+	T	T			Silent	1371						
EPAS1	2034	broad.mit.edu	GRCh37	2	46603736	46603736	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-06-5417-01	TCGA-06-5417-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263734.3:c.1096del	p.His366ThrfsTer2	p.H366Tfs*2	ENST00000263734	NM_001430.4	365	Ccc/cc	0			1			-	P/X	uc002ruv.2	protein_coding	YES	CCDS1825.1			1093/2613									ovary(1)|skin(1)	2	c.(1093-1095)CCCfs			hmmpanther:PTHR23043,hmmpanther:PTHR23043:SF8	endothelial PAS domain protein 1				ENSP00000263734		16-Sep									COSM2153285	16-Sep	.		ENST00000263734	Transcript	1		angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	ENSG00000116016	g.chr2:46603736delC	3374	3		HIGH								--	--	1																																			1	1			p.P365fs	NM_001430	NP_001421			1	EPAS1_HUMAN	EPAS1	HGNC	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		Q53SM6_HUMAN,C9J9N2_HUMAN,B3KW07_HUMAN		9	1581	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	UPI000013D44F	365					deletion	EPAS1,frameshift_variant,p.His366ThrfsTer2,ENST00000263734,NM_001430.4;EPAS1,non_coding_transcript_exon_variant,,ENST00000483692,;EPAS1,upstream_gene_variant,,ENST00000466465,;EPAS1,upstream_gene_variant,,ENST00000465318,;	uc002ruv.2	c.1093delC	1603/5160	5	5			c.1093delC						2	DEL	c.(1093-1095)CCCfs	13	13			ovary(1)|skin(1)	2	Broad	endothelial PAS domain protein 1			46603736		0.493	ENSG00000116016	5065	g.chr2:46603736delC	angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding																				0.29	1	1	0	1	0	0	0	0	0	--	--		0	-				99	GBM-06-5417-TP	p.P365fs	C	CCTGTTCAAGCCCCACCTGAT	NM_001430	NP_001421	46603736	Q99814	EPAS1_HUMAN	0	LUSC - Lung squamous cell carcinoma(58;0.151)		9	1581	+	-	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Frame_Shift_Del	365						
EPAS1	2034		GRCh37	2	46609718	46609718	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000263734.3:c.2442G>A	p.Ser814=	p.S814=	ENST00000263734	NM_001430.4	814	tcG/tcA	0																																																																																																																																																																																																																																												
EPB41	2035	broad.mit.edu	GRCh37	1	29344851	29344851	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01	TCGA-06-2564-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343067.4:c.1021G>A	p.Asp341Asn	p.D341N	ENST00000343067	NM_001166005.1	341	Gac/Aac	0			1			A	D/N	uc001brm.1	protein_coding	YES	CCDS53288.1			1021/2595									ovary(1)	1	c.(1021-1023)GAC>AAC			Gene3D:1.20.80.10,Pfam_domain:PF00373,PIRSF_domain:PIRSF002304,PROSITE_profiles:PS50057,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF12,SMART_domains:SM00295,Superfamily_domains:SSF47031	erythrocyte membrane protein band 4.1				ENSP00000345259		21-Jul									COSM2152926,COSM2152925	21-Jul	.		ENST00000343067	Transcript	1		blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	ENSG00000159023	g.chr1:29344851G>A	3377			MODERATE		2.375	medium	getma.org/?cm=msa&ty=f&p=41_HUMAN&rb=292&re=401&var=D341N	getma.org/pdb.php?prot=41_HUMAN&from=292&to=401&var=D341N	getma.org/?cm=var&var=hg19,1,29344851,G,A&fts=all	D341N	--	--	1																																		EPB41_uc001brg.1_Missense_Mutation_p.D132N|EPB41_uc001brh.1_Missense_Mutation_p.D132N|EPB41_uc001bri.1_Missense_Mutation_p.D306N|EPB41_uc001brj.1_Missense_Mutation_p.D132N|EPB41_uc009vtk.1_Missense_Mutation_p.D306N|EPB41_uc001brk.2_Missense_Mutation_p.D341N|EPB41_uc001brl.1_Missense_Mutation_p.D341N|EPB41_uc009vtl.1_Missense_Mutation_p.D132N|EPB41_uc009vtm.1_5'UTR	1,1	1		probably_damaging(0.997)	p.D341N	NM_203342	NP_976217		deleterious(0)	1,1	41_HUMAN	EPB41	HGNC	P11171	41_HUMAN		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)			6	1028	+		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	UPI000014177D	341			FERM.		SNV	EPB41,missense_variant,p.Asp341Asn,ENST00000343067,NM_001166005.1;EPB41,missense_variant,p.Asp341Asn,ENST00000373798,;EPB41,missense_variant,p.Asp341Asn,ENST00000356093,NM_001166007.1;EPB41,missense_variant,p.Asp341Asn,ENST00000398863,;EPB41,missense_variant,p.Asp132Asn,ENST00000349460,NM_203342.2;EPB41,missense_variant,p.Asp132Asn,ENST00000373800,NM_004437.3;EPB41,missense_variant,p.Asp306Asn,ENST00000347529,NM_203343.2;EPB41,missense_variant,p.Asp341Asn,ENST00000373797,NM_001166006.1;	uc001brm.1	c.1021G>A	1148/5930	2	2			c.1021G>A						1	SNP	c.(1021-1023)GAC>AAC	17	17			ovary(1)	1	Broad	erythrocyte membrane protein band 4.1			29344851		0.468	ENSG00000159023	5066	g.chr1:29344851G>A	blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton							213.156808	KEEP	27	49	-1	75	82	27	49	-1	217.95941	75	82	0.342466	1	0	0	0	0	1	0	0	0	--	--		0	A			EPB41_uc001brg.1_Missense_Mutation_p.D132N|EPB41_uc001brh.1_Missense_Mutation_p.D132N|EPB41_uc001bri.1_Missense_Mutation_p.D306N|EPB41_uc001brj.1_Missense_Mutation_p.D132N|EPB41_uc009vtk.1_Missense_Mutation_p.D306N|EPB41_uc001brk.2_Missense_Mutation_p.D341N|EPB41_uc001brl.1_Missense_Mutation_p.D341N|EPB41_uc009vtl.1_Missense_Mutation_p.D132N|EPB41_uc009vtm.1_5'UTR	87	GBM-06-2564-TP	p.D341N	G	GGGAGACTACGACCCAGAACT	NM_203342	NP_976217	29344851	P11171	41_HUMAN	0		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)	6	1028	+	A	A		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	Missense_Mutation	341			FERM.			
EPB41L2	0	broad.mit.edu	GRCh37	6	131191073	131191075	+	inframe_deletion	In_Frame_Del	DEL	CTG	CTG	-			TCGA-12-0619-01	TCGA-12-0619-01	CTG	CTG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337057.3:c.2235_2237delCAG	p.Ser746del	p.S746del	ENST00000337057	NM_001431.3	745	agCAGt/agt	0			1			-	SS/S	uc003qch.2	protein_coding	YES	CCDS5141.1			2235-2237/3018									central_nervous_system(1)|skin(1)	2	c.(2233-2238)AGCAGT>AGT			Low_complexity_(Seg):seg,hmmpanther:PTHR23280:SF17,hmmpanther:PTHR23280,PIRSF_domain:PIRSF002304	erythrocyte membrane protein band 4.1-like 2				ENSP00000338481		15/20	7.41E-05	0.000289	0.000173			6.00E-05			rs147222924,COSM392589	15/20	.		ENST00000337057	Transcript			cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	ENSG00000079819	g.chr6:131191073_131191075delCTG	3379			MODERATE								--	--	1																																		EPB41L2_uc003qce.1_In_Frame_Del_p.123_124SS>S|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc011eby.1_Intron|EPB41L2_uc003qci.2_In_Frame_Del_p.675_676SS>S|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc010kfl.1_In_Frame_Del_p.675_676SS>S|EPB41L2_uc003qcd.1_5'Flank|EPB41L2_uc003qcj.1_In_Frame_Del_p.142_143SS>S	0,1	1			p.745_746SS>S	NM_001431	NP_001422			0,1	E41L2_HUMAN	EPB41L2	HGNC	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	E9PRG1_HUMAN,E9PQN0_HUMAN,E9PQD2_HUMAN,E9PJP4_HUMAN,E9PIG0_HUMAN		15	2417_2419	-	Breast(56;0.0639)		UPI0000129AF9	745_746					deletion	EPB41L2,inframe_deletion,p.Ser746del,ENST00000337057,NM_001431.3;EPB41L2,inframe_deletion,p.Ser746del,ENST00000368128,;EPB41L2,inframe_deletion,p.Ser676del,ENST00000527411,;EPB41L2,inframe_deletion,p.Ser676del,ENST00000530481,NM_001199388.2;EPB41L2,inframe_deletion,p.Ser124del,ENST00000524581,;EPB41L2,inframe_deletion,p.Ser676del,ENST00000529208,NM_001199389.1;EPB41L2,inframe_deletion,p.Ser676del,ENST00000527659,;EPB41L2,inframe_deletion,p.Ser289del,ENST00000456097,;EPB41L2,inframe_deletion,p.Ser198del,ENST00000525198,;EPB41L2,inframe_deletion,p.Ser145del,ENST00000527423,;EPB41L2,intron_variant,,ENST00000530757,;EPB41L2,intron_variant,,ENST00000445890,;EPB41L2,intron_variant,,ENST00000528282,NM_001252660.1;EPB41L2,intron_variant,,ENST00000392427,NM_001135554.1,NM_001135555.3;EPB41L2,intron_variant,,ENST00000531410,;EPB41L2,intron_variant,,ENST00000525271,;EPB41L2,intron_variant,,ENST00000525193,;EPB41L2,intron_variant,,ENST00000527017,;EPB41L2,non_coding_transcript_exon_variant,,ENST00000533912,;EPB41L2,upstream_gene_variant,,ENST00000452150,;EPB41L2,upstream_gene_variant,,ENST00000368126,;EPB41L2,downstream_gene_variant,,ENST00000534166,;	uc003qch.2	c.2235_2237delCAG	2417-2419/4457	5	5			c.2235_2237delCAG						6	DEL	c.(2233-2238)AGCAGT>AGT	13	13			central_nervous_system(1)|skin(1)	2	Broad	erythrocyte membrane protein band 4.1-like 2			131191075		0.562	ENSG00000079819	5068	g.chr6:131191073_131191075delCTG	cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity																				0.03	1	1	0	1	0	0	0	0	0	--	--		0	-			EPB41L2_uc003qce.1_In_Frame_Del_p.123_124SS>S|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc011eby.1_Intron|EPB41L2_uc003qci.2_In_Frame_Del_p.675_676SS>S|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc010kfl.1_In_Frame_Del_p.675_676SS>S|EPB41L2_uc003qcd.1_5'Flank|EPB41L2_uc003qcj.1_In_Frame_Del_p.142_143SS>S	120	GBM-12-0619-TP	p.745_746SS>S	CTG	CTCACTCTCACTGCTGCTGCTGC	NM_001431	NP_001422	131191073	O43491	E41L2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	15	2417_2419	-	-	-	Breast(56;0.0639)		In_Frame_Del	745_746						
EPB41L2	0	broad.mit.edu	GRCh37	6	131277174	131277174	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-12-3650-01	TCGA-12-3650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337057.3:c.452G>C	p.Ser151Thr	p.S151T	ENST00000337057	NM_001431.3	151	aGc/aCc	0			1			G	S/T	uc003qch.2	protein_coding	YES	CCDS5141.1			452/3018									central_nervous_system(1)|skin(1)	2	c.(451-453)AGC>ACC			Low_complexity_(Seg):seg,PIRSF_domain:PIRSF002304	erythrocyte membrane protein band 4.1-like 2				ENSP00000338481		20-Feb									COSM3410588	20-Feb	.		ENST00000337057	Transcript			cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	ENSG00000079819	g.chr6:131277174C>G	3379			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=E41L2_HUMAN&rb=1&re=200&var=S151T	NA	getma.org/?cm=var&var=hg19,6,131277174,C,G&fts=all	S151T	--	--	1																																		EPB41L2_uc003qcg.1_Missense_Mutation_p.S151T|EPB41L2_uc011eby.1_Missense_Mutation_p.S151T|EPB41L2_uc003qci.2_Missense_Mutation_p.S151T|EPB41L2_uc010kfk.2_Missense_Mutation_p.S151T|EPB41L2_uc010kfl.1_Missense_Mutation_p.S151T	1	1		benign(0.034)	p.S151T	NM_001431	NP_001422		tolerated(0.19)	1	E41L2_HUMAN	EPB41L2	HGNC	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	E9PRG1_HUMAN,E9PQN0_HUMAN,E9PQD2_HUMAN,E9PJP4_HUMAN,E9PIG0_HUMAN		2	634	-	Breast(56;0.0639)		UPI0000129AF9	151					SNV	EPB41L2,missense_variant,p.Ser151Thr,ENST00000337057,NM_001431.3;EPB41L2,missense_variant,p.Ser151Thr,ENST00000368128,;EPB41L2,missense_variant,p.Ser151Thr,ENST00000527411,;EPB41L2,missense_variant,p.Ser151Thr,ENST00000530481,NM_001199388.2;EPB41L2,missense_variant,p.Ser151Thr,ENST00000445890,;EPB41L2,missense_variant,p.Ser151Thr,ENST00000528282,NM_001252660.1;EPB41L2,missense_variant,p.Ser151Thr,ENST00000392427,NM_001135554.1,NM_001135555.3;EPB41L2,missense_variant,p.Ser151Thr,ENST00000529208,NM_001199389.1;EPB41L2,missense_variant,p.Ser151Thr,ENST00000525271,;EPB41L2,missense_variant,p.Ser151Thr,ENST00000527659,;EPB41L2,missense_variant,p.Ser151Thr,ENST00000525193,;EPB41L2,missense_variant,p.Ser151Thr,ENST00000532499,;EPB41L2,missense_variant,p.Ser151Thr,ENST00000529709,;EPB41L2,missense_variant,p.Ser151Thr,ENST00000526983,;EPB41L2,downstream_gene_variant,,ENST00000531356,;EPB41L2,downstream_gene_variant,,ENST00000530707,;EPB41L2,intron_variant,,ENST00000530148,;EPB41L2,intron_variant,,ENST00000528179,;EPB41L2,intron_variant,,ENST00000526333,;	uc003qch.2	c.452G>C	634/4457	3	3			c.452G>C						6	SNP	c.(451-453)AGC>ACC	61	61			central_nervous_system(1)|skin(1)	2	Broad	erythrocyte membrane protein band 4.1-like 2			131277174		0.408	ENSG00000079819	5068	g.chr6:131277174C>G	cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity							822.002296	KEEP	164	104	-1	224	161	164	104	-1	826.991044	224	161	0.400691	1	0	0	0	0	1	0	0	0	--	--		0	G			EPB41L2_uc003qcg.1_Missense_Mutation_p.S151T|EPB41L2_uc011eby.1_Missense_Mutation_p.S151T|EPB41L2_uc003qci.2_Missense_Mutation_p.S151T|EPB41L2_uc010kfk.2_Missense_Mutation_p.S151T|EPB41L2_uc010kfl.1_Missense_Mutation_p.S151T	126	GBM-12-3650-TP	p.S151T	C	TTCTTCCTTGCTCACTGAGGG	NM_001431	NP_001422	131277174	O43491	E41L2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	2	634	-	G	G	Breast(56;0.0639)		Missense_Mutation	151						
EPB41L3	23136	broad.mit.edu	GRCh37	18	5428421	5428421	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0219-01	TCGA-06-0219-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341928.2:c.956G>C	p.Gly319Ala	p.G319A	ENST00000341928	NM_012307.3	319	gGt/gCt	0			1			G	G/A	uc002kmt.1	protein_coding	YES	CCDS11838.1			956/3264									ovary(5)	5	c.(955-957)GGT>GCT			PROSITE_profiles:PS50057,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF20,Gene3D:2.30.29.30,Pfam_domain:PF09380,PIRSF_domain:PIRSF002304,Superfamily_domains:SSF50729,Prints_domain:PR00661	erythrocyte membrane protein band 4.1-like 3				ENSP00000343158		23-Sep									COSM3403573,COSM3403574	23-Sep	.		ENST00000341928	Transcript			cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	ENSG00000082397	g.chr18:5428421C>G	3380			MODERATE		3.815	high	getma.org/?cm=msa&ty=f&p=E41L3_HUMAN&rb=305&re=395&var=G319A	getma.org/pdb.php?prot=E41L3_HUMAN&from=305&to=395&var=G319A	getma.org/?cm=var&var=hg19,18,5428421,C,G&fts=all	G319A	--	--	1																																		EPB41L3_uc010wzh.1_Missense_Mutation_p.G319A|EPB41L3_uc002kmu.1_Missense_Mutation_p.G319A|EPB41L3_uc010dkq.1_Missense_Mutation_p.G210A|EPB41L3_uc010dks.1_Missense_Mutation_p.G341A	1,1	1		probably_damaging(0.999)	p.G319A	NM_012307	NP_036439		deleterious(0)	1,1	E41L3_HUMAN	EPB41L3	HGNC	Q9Y2J2	E41L3_HUMAN			J3QS55_HUMAN,J3QRQ6_HUMAN,J3QR33_HUMAN,J3QKY2_HUMAN,J3QKK4_HUMAN,J3KS70_HUMAN,J3KRD1_HUMAN		9	1042	-			UPI0000129AFA	319			FERM.		SNV	EPB41L3,missense_variant,p.Gly319Ala,ENST00000341928,NM_012307.3;EPB41L3,missense_variant,p.Gly319Ala,ENST00000342933,;EPB41L3,missense_variant,p.Gly319Ala,ENST00000540638,NM_001281534.1;EPB41L3,missense_variant,p.Gly319Ala,ENST00000544123,NM_001281533.1;EPB41L3,missense_variant,p.Gly319Ala,ENST00000400111,;EPB41L3,intron_variant,,ENST00000584670,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000542652,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000545076,;EPB41L3,upstream_gene_variant,,ENST00000581661,;EPB41L3,downstream_gene_variant,,ENST00000581757,;EPB41L3,downstream_gene_variant,,ENST00000578432,;	uc002kmt.1	c.956G>C	1297/4706	3	3			c.956G>C						18	SNP	c.(955-957)GGT>GCT	4	4			ovary(5)	5	Broad	erythrocyte membrane protein band 4.1-like 3			5428421		0.393	ENSG00000082397	5069	g.chr18:5428421C>G	cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity							-26.422538	KEEP	4	11	-1	134	168	4	11	-1	33.570553	134	168	0.047273	1	0	0	0	0	1	0	0	0	--	--		0	G			EPB41L3_uc010wzh.1_Missense_Mutation_p.G319A|EPB41L3_uc002kmu.1_Missense_Mutation_p.G319A|EPB41L3_uc010dkq.1_Missense_Mutation_p.G210A|EPB41L3_uc010dks.1_Missense_Mutation_p.G341A	52	GBM-06-0219-TP	p.G319A	C	TATCAACAGACCACTTGCACA	NM_012307	NP_036439	5428421	Q9Y2J2	E41L3_HUMAN	0			9	1042	-	G	G			Missense_Mutation	319			FERM.			
EPB41L3	23136	broad.mit.edu	GRCh37	18	5489008	5489008	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341928.2:c.175C>T	p.Arg59Trp	p.R59W	ENST00000341928	NM_012307.3	59	Cgg/Tgg	0			1			A	R/W	uc002kmt.1	protein_coding	YES	CCDS11838.1			175/3264									ovary(5)	5	c.(175-177)CGG>TGG			PIRSF_domain:PIRSF002304	erythrocyte membrane protein band 4.1-like 3				ENSP00000343158		23-Feb	1.65E-05	0.000116						6.89E-05	rs780498839,COSM2151846,COSM3403578	23-Feb	.		ENST00000341928	Transcript			cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	ENSG00000082397	g.chr18:5489008G>A	3380			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=E41L3_HUMAN&rb=1&re=113&var=R59W	NA	getma.org/?cm=var&var=hg19,18,5489008,G,A&fts=all	R59W	--	--	1																																		EPB41L3_uc010wzh.1_Missense_Mutation_p.R59W|EPB41L3_uc002kmu.1_Missense_Mutation_p.R59W|EPB41L3_uc010dkq.1_5'UTR|EPB41L3_uc010dks.1_Missense_Mutation_p.R81W|EPB41L3_uc002kmv.1_5'UTR	0,1,1	1		possibly_damaging(0.556)	p.R59W	NM_012307	NP_036439		deleterious(0)	0,1,1	E41L3_HUMAN	EPB41L3	HGNC	Q9Y2J2	E41L3_HUMAN			J3QS55_HUMAN,J3QRQ6_HUMAN,J3QR33_HUMAN,J3QKY2_HUMAN,J3QKK4_HUMAN,J3KS70_HUMAN,J3KRD1_HUMAN		2	261	-			UPI0000129AFA	59					SNV	EPB41L3,missense_variant,p.Arg59Trp,ENST00000341928,NM_012307.3;EPB41L3,missense_variant,p.Arg59Trp,ENST00000342933,;EPB41L3,missense_variant,p.Arg59Trp,ENST00000540638,NM_001281534.1;EPB41L3,missense_variant,p.Arg59Trp,ENST00000544123,NM_001281533.1;EPB41L3,missense_variant,p.Arg59Trp,ENST00000400111,;EPB41L3,missense_variant,p.Arg59Trp,ENST00000581833,;EPB41L3,missense_variant,p.Arg59Trp,ENST00000585142,;EPB41L3,missense_variant,p.Arg59Trp,ENST00000578503,;EPB41L3,missense_variant,p.Arg81Trp,ENST00000582592,;EPB41L3,missense_variant,p.Arg59Trp,ENST00000580989,;EPB41L3,missense_variant,p.Arg59Trp,ENST00000582703,;EPB41L3,missense_variant,p.Arg59Trp,ENST00000584651,;EPB41L3,missense_variant,p.Arg59Trp,ENST00000584015,;EPB41L3,missense_variant,p.Arg59Trp,ENST00000580179,;EPB41L3,missense_variant,p.Arg59Trp,ENST00000580308,;EPB41L3,intron_variant,,ENST00000584670,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000545076,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000578431,;EPB41L3,upstream_gene_variant,,ENST00000581454,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000580866,;	uc002kmt.1	c.175C>T	516/4706	1	1			c.175C>T						18	SNP	c.(175-177)CGG>TGG	63	63			ovary(5)	5	Broad	erythrocyte membrane protein band 4.1-like 3			5489008		0.562	ENSG00000082397	5069	g.chr18:5489008G>A	cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity							99.43709	KEEP	22	21	-1	26	28	22	21	-1	99.71663	26	28	0.435897	1	0	0	0	0	1	0	0	0	--	--		0	A			EPB41L3_uc010wzh.1_Missense_Mutation_p.R59W|EPB41L3_uc002kmu.1_Missense_Mutation_p.R59W|EPB41L3_uc010dkq.1_5'UTR|EPB41L3_uc010dks.1_Missense_Mutation_p.R81W|EPB41L3_uc002kmv.1_5'UTR	68	GBM-06-0747-TP	p.R59W	G	ACCTCCCTCCGCACCGGGGTG	NM_012307	NP_036439	5489008	Q9Y2J2	E41L3_HUMAN	0			2	261	-	A	A			Missense_Mutation	59						
EPB41L3	23136	broad.mit.edu	GRCh37	18	5395093	5395093	+	synonymous_variant	Silent	SNP	C	C	A	rs144676596		TCGA-06-6388-01	TCGA-06-6388-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341928.2:c.3126G>T	p.Thr1042=	p.T1042=	ENST00000341928	NM_012307.3	1042	acG/acT	0			1			A	T	uc002kmt.1	protein_coding	YES	CCDS11838.1			3126/3264									ovary(5)	5	c.(3124-3126)ACG>ACT			hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF20,Pfam_domain:PF05902,PIRSF_domain:PIRSF002304	erythrocyte membrane protein band 4.1-like 3				ENSP00000343158		21/23									COSM564266,COSM3403567	21/23	.		ENST00000341928	Transcript			cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	ENSG00000082397	g.chr18:5395093C>A	3380			LOW								--	--	1																																		EPB41L3_uc010wzh.1_Silent_p.T873T|EPB41L3_uc002kmu.1_Silent_p.T820T|EPB41L3_uc010dkq.1_Silent_p.T711T|EPB41L3_uc002kms.1_Silent_p.T277T|EPB41L3_uc010wze.1_Silent_p.T347T|EPB41L3_uc010wzf.1_Silent_p.T339T|EPB41L3_uc010wzg.1_Silent_p.T314T|EPB41L3_uc010dkr.2_Silent_p.T434T	1,1	1			p.T1042T	NM_012307	NP_036439			1,1	E41L3_HUMAN	EPB41L3	HGNC	Q9Y2J2	E41L3_HUMAN			J3QS55_HUMAN,J3QRQ6_HUMAN,J3QR33_HUMAN,J3QKY2_HUMAN,J3QKK4_HUMAN,J3KS70_HUMAN,J3KRD1_HUMAN		21	3212	-			UPI0000129AFA	1042			Carboxyl-terminal (CTD).		SNV	EPB41L3,synonymous_variant,p.=,ENST00000341928,NM_012307.3;EPB41L3,synonymous_variant,p.=,ENST00000342933,;EPB41L3,synonymous_variant,p.=,ENST00000540638,NM_001281534.1;EPB41L3,synonymous_variant,p.=,ENST00000544123,NM_001281533.1;EPB41L3,synonymous_variant,p.=,ENST00000400111,;EPB41L3,synonymous_variant,p.=,ENST00000542146,;EPB41L3,synonymous_variant,p.=,ENST00000427684,;EPB41L3,synonymous_variant,p.=,ENST00000579951,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000542652,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000545076,;EPB41L3,downstream_gene_variant,,ENST00000578524,;EPB41L3,downstream_gene_variant,,ENST00000579271,;EPB41L3,downstream_gene_variant,,ENST00000581387,;EPB41L3,downstream_gene_variant,,ENST00000580647,;EPB41L3,downstream_gene_variant,,ENST00000580316,;EPB41L3,downstream_gene_variant,,ENST00000581292,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000578618,;EPB41L3,downstream_gene_variant,,ENST00000584055,;	uc002kmt.1	c.3126G>T	3467/4706	1	1			c.3126G>T						18	SNP	c.(3124-3126)ACG>ACT	61	61			ovary(5)	5	Broad	erythrocyte membrane protein band 4.1-like 3			5395093		0.448	ENSG00000082397	5069	g.chr18:5395093C>A	cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity							108.994192	KEEP	28	21	0.428571429	47	54	28	21	0.428571429	111.993739	47	54	0.330508	1	0	0	0	0	0	0	1	0	--	--		0	A			EPB41L3_uc010wzh.1_Silent_p.T873T|EPB41L3_uc002kmu.1_Silent_p.T820T|EPB41L3_uc010dkq.1_Silent_p.T711T|EPB41L3_uc002kms.1_Silent_p.T277T|EPB41L3_uc010wze.1_Silent_p.T347T|EPB41L3_uc010wzf.1_Silent_p.T339T|EPB41L3_uc010wzg.1_Silent_p.T314T|EPB41L3_uc010dkr.2_Silent_p.T434T	104	GBM-06-6388-TP	p.T1042T	C	CTGCATCCCCCGTGATGACTA	NM_012307	NP_036439	5395093	Q9Y2J2	E41L3_HUMAN	0			21	3212	-	A	A			Silent	1042			Carboxyl-terminal (CTD).			
EPB41L3	0	broad.mit.edu	GRCh37	18	5415838	5415838	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-26-5136-01	TCGA-26-5136-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341928.2:c.2046G>A	p.Pro682=	p.P682=	ENST00000341928	NM_012307.3	682	ccG/ccA	0		T:0	1	T:0		T	P	uc002kmt.1	protein_coding	YES	CCDS11838.1			2046/3264									ovary(5)	5	c.(2044-2046)CCG>CCA			hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF20,PIRSF_domain:PIRSF002304	erythrocyte membrane protein band 4.1-like 3		T:0		ENSP00000343158	T:0	13/23	0.00014		0.00104	0.000117		3.02E-05	0.00111	6.09E-05	rs549355143,COSM2157126	13/23	common_variant		ENST00000341928	Transcript		T:0.0002	cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	ENSG00000082397	g.chr18:5415838C>T	3380			LOW								--	--	1																																		EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron	0,1	1			p.P682P	NM_012307	NP_036439	T:0.001		0,1	E41L3_HUMAN	EPB41L3	HGNC	Q9Y2J2	E41L3_HUMAN			J3QS55_HUMAN,J3QRQ6_HUMAN,J3QR33_HUMAN,J3QKY2_HUMAN,J3QKK4_HUMAN,J3KS70_HUMAN,J3KRD1_HUMAN		13	2132	-			UPI0000129AFA	682			Spectrin--actin-binding (Potential).		SNV	EPB41L3,synonymous_variant,p.=,ENST00000341928,NM_012307.3;EPB41L3,synonymous_variant,p.=,ENST00000342933,;EPB41L3,intron_variant,,ENST00000540638,NM_001281534.1;EPB41L3,intron_variant,,ENST00000544123,NM_001281533.1;EPB41L3,intron_variant,,ENST00000400111,;EPB41L3,intron_variant,,ENST00000542146,;EPB41L3,intron_variant,,ENST00000427684,;EPB41L3,downstream_gene_variant,,ENST00000584670,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000582729,;EPB41L3,intron_variant,,ENST00000542652,;EPB41L3,intron_variant,,ENST00000545076,;EPB41L3,intron_variant,,ENST00000578524,;EPB41L3,intron_variant,,ENST00000579271,;EPB41L3,intron_variant,,ENST00000581387,;EPB41L3,intron_variant,,ENST00000580647,;EPB41L3,intron_variant,,ENST00000580316,;EPB41L3,intron_variant,,ENST00000578395,;EPB41L3,intron_variant,,ENST00000581292,;EPB41L3,intron_variant,,ENST00000578196,;EPB41L3,downstream_gene_variant,,ENST00000581661,;	uc002kmt.1	c.2046G>A	2387/4706	2	2			c.2046G>A						18	SNP	c.(2044-2046)CCG>CCA	28	28			ovary(5)	5	Broad	erythrocyte membrane protein band 4.1-like 3			5415838		0.582	ENSG00000082397	5069	g.chr18:5415838C>T	cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity							106.169362	KEEP	20	31	-1	86	98	20	31	-1	119.876895	86	98	0.226131	1	0	0	0	0	0	0	1	0	--	--		0	T			EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron	185	GBM-26-5136-TP	p.P682P	C	AACTGTCACTCGGGTCATTGT	NM_012307	NP_036439	5415838	Q9Y2J2	E41L3_HUMAN	0			13	2132	-	T	T			Silent	682			Spectrin--actin-binding (Potential).			
EPB41L3	0	broad.mit.edu	GRCh37	18	5395100	5395100	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-1979-01	TCGA-32-1979-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341928.2:c.3119T>C	p.Val1040Ala	p.V1040A	ENST00000341928	NM_012307.3	1040	gTc/gCc	0			1			G	V/A	uc002kmt.1	protein_coding	YES	CCDS11838.1			3119/3264									ovary(5)	5	c.(3118-3120)GTC>GCC			hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF20,Pfam_domain:PF05902,PIRSF_domain:PIRSF002304	erythrocyte membrane protein band 4.1-like 3				ENSP00000343158		21/23									COSM3403568,COSM3403569	21/23	.		ENST00000341928	Transcript			cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	ENSG00000082397	g.chr18:5395100A>G	3380			MODERATE		2.865	medium	getma.org/?cm=msa&ty=f&p=E41L3_HUMAN&rb=967&re=1080&var=V1040A	NA	getma.org/?cm=var&var=hg19,18,5395100,A,G&fts=all	V1040A	--	--	1																																		EPB41L3_uc010wzh.1_Missense_Mutation_p.V871A|EPB41L3_uc002kmu.1_Missense_Mutation_p.V818A|EPB41L3_uc010dkq.1_Missense_Mutation_p.V709A|EPB41L3_uc002kms.1_Missense_Mutation_p.V275A|EPB41L3_uc010wze.1_Missense_Mutation_p.V345A|EPB41L3_uc010wzf.1_Missense_Mutation_p.V337A|EPB41L3_uc010wzg.1_Missense_Mutation_p.V312A|EPB41L3_uc010dkr.2_Missense_Mutation_p.V432A	1,1	1		probably_damaging(0.999)	p.V1040A	NM_012307	NP_036439		deleterious(0)	1,1	E41L3_HUMAN	EPB41L3	HGNC	Q9Y2J2	E41L3_HUMAN			J3QS55_HUMAN,J3QRQ6_HUMAN,J3QR33_HUMAN,J3QKY2_HUMAN,J3QKK4_HUMAN,J3KS70_HUMAN,J3KRD1_HUMAN		21	3205	-			UPI0000129AFA	1040			Carboxyl-terminal (CTD).		SNV	EPB41L3,missense_variant,p.Val1040Ala,ENST00000341928,NM_012307.3;EPB41L3,missense_variant,p.Val1040Ala,ENST00000342933,;EPB41L3,missense_variant,p.Val818Ala,ENST00000540638,NM_001281534.1;EPB41L3,missense_variant,p.Val871Ala,ENST00000544123,NM_001281533.1;EPB41L3,missense_variant,p.Val818Ala,ENST00000400111,;EPB41L3,missense_variant,p.Val345Ala,ENST00000542146,;EPB41L3,missense_variant,p.Val337Ala,ENST00000427684,;EPB41L3,missense_variant,p.Val94Ala,ENST00000579951,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000542652,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000545076,;EPB41L3,downstream_gene_variant,,ENST00000578524,;EPB41L3,downstream_gene_variant,,ENST00000579271,;EPB41L3,downstream_gene_variant,,ENST00000581387,;EPB41L3,downstream_gene_variant,,ENST00000580647,;EPB41L3,downstream_gene_variant,,ENST00000580316,;EPB41L3,downstream_gene_variant,,ENST00000581292,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000578618,;EPB41L3,downstream_gene_variant,,ENST00000584055,;	uc002kmt.1	c.3119T>C	3460/4706	3	3			c.3119T>C						18	SNP	c.(3118-3120)GTC>GCC	53	53			ovary(5)	5	Broad	erythrocyte membrane protein band 4.1-like 3			5395100		0.448	ENSG00000082397	5069	g.chr18:5395100A>G	cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity							18.203687	KEEP	7	5	-1	22	34	7	5	-1	24.106076	22	34	0.172414	1	0	0	0	0	1	0	0	0	--	--		0	G			EPB41L3_uc010wzh.1_Missense_Mutation_p.V871A|EPB41L3_uc002kmu.1_Missense_Mutation_p.V818A|EPB41L3_uc010dkq.1_Missense_Mutation_p.V709A|EPB41L3_uc002kms.1_Missense_Mutation_p.V275A|EPB41L3_uc010wze.1_Missense_Mutation_p.V345A|EPB41L3_uc010wzf.1_Missense_Mutation_p.V337A|EPB41L3_uc010wzg.1_Missense_Mutation_p.V312A|EPB41L3_uc010dkr.2_Missense_Mutation_p.V432A	230	GBM-32-1979-TP	p.V1040A	A	CCCCGTGATGACTATTCGCTT	NM_012307	NP_036439	5395100	Q9Y2J2	E41L3_HUMAN	0			21	3205	-	G	G			Missense_Mutation	1040			Carboxyl-terminal (CTD).			
EPB41L4A	64097		GRCh37	5	111540130	111540130	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000261486.5:c.1318C>T	p.Arg440Cys	p.R440C	ENST00000261486	NM_022140.3	440	Cgt/Tgt	0																																																																																																																																																																																																																																												
EPB41L4B	0	broad.mit.edu	GRCh37	9	112015778	112015778	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-5214-01	TCGA-28-5214-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374566.3:c.1222A>G	p.Thr408Ala	p.T408A	ENST00000374566	NM_019114.3	408	Acc/Gcc	0			1			C	T/A	uc004bdz.1	protein_coding	YES	CCDS43859.1			1222/2703									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(1222-1224)ACC>GCC			hmmpanther:PTHR23280:SF18,hmmpanther:PTHR23280,Pfam_domain:PF08736	erythrocyte membrane protein band 4.1 like 4B				ENSP00000363694		26-Dec									COSM3413232,COSM3413233	26-Dec	.		ENST00000374566	Transcript				cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	ENSG00000095203	g.chr9:112015778T>C	19818			MODERATE		1.175	low	getma.org/?cm=msa&ty=f&p=E41LB_HUMAN&rb=378&re=422&var=T408A	NA	getma.org/?cm=var&var=hg19,9,112015778,T,C&fts=all	T408A	--	--	1																																		EPB41L4B_uc004bea.2_Missense_Mutation_p.T408A	1,1	1		probably_damaging(0.998)	p.T408A	NM_019114	NP_061987		deleterious(0.03)	1,1	E41LB_HUMAN	EPB41L4B	HGNC	Q9H329	E41LB_HUMAN					12	1517	-			UPI0000458994	408					SNV	EPB41L4B,missense_variant,p.Thr408Ala,ENST00000374566,NM_019114.3;EPB41L4B,missense_variant,p.Thr408Ala,ENST00000374557,NM_018424.2;	uc004bdz.1	c.1222A>G	1740/5800	3	3			c.1222A>G						9	SNP	c.(1222-1224)ACC>GCC	10	10			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	erythrocyte membrane protein band 4.1 like 4B			112015778		0.403	ENSG00000095203	5071	g.chr9:112015778T>C		cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton							261.635624	KEEP	49	55	-1	121	106	49	55	-1	269.633858	121	106	0.321555	1	0	0	0	0	1	0	0	0	--	--		0	C			EPB41L4B_uc004bea.2_Missense_Mutation_p.T408A	221	GBM-28-5214-TP	p.T408A	T	CTCTCAAAGGTGCTGGTTCTT	NM_019114	NP_061987	112015778	Q9H329	E41LB_HUMAN	0			12	1517	-	C	C			Missense_Mutation	408						
EPB41L4B	0	broad.mit.edu	GRCh37	9	112017853	112017853	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-1982-01	TCGA-32-1982-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374566.3:c.1107G>A	p.Thr369=	p.T369=	ENST00000374566	NM_019114.3	369	acG/acA	0	T:0.0005		1			T	T	uc004bdz.1	protein_coding	YES	CCDS43859.1			1107/2703									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(1105-1107)ACG>ACA			PROSITE_profiles:PS50057,hmmpanther:PTHR23280:SF18,hmmpanther:PTHR23280,Pfam_domain:PF09380,Superfamily_domains:SSF50729,Prints_domain:PR00661	erythrocyte membrane protein band 4.1 like 4B			T:0	ENSP00000363694		26-Nov	1.65E-05	0.000204							rs377599387,COSM3169051,COSM3169052	26-Nov	.		ENST00000374566	Transcript				cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	ENSG00000095203	g.chr9:112017853C>T	19818			LOW								--	--	1																																		EPB41L4B_uc004bea.2_Silent_p.T369T	0,1,1	1			p.T369T	NM_019114	NP_061987			0,1,1	E41LB_HUMAN	EPB41L4B	HGNC	Q9H329	E41LB_HUMAN					11	1402	-			UPI0000458994	369			FERM.		SNV	EPB41L4B,synonymous_variant,p.=,ENST00000374566,NM_019114.3;EPB41L4B,synonymous_variant,p.=,ENST00000374557,NM_018424.2;	uc004bdz.1	c.1107G>A	1625/5800	2	2			c.1107G>A						9	SNP	c.(1105-1107)ACG>ACA	45	45			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	erythrocyte membrane protein band 4.1 like 4B			112017853		0.522	ENSG00000095203	5071	g.chr9:112017853C>T		cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton							78.632339	KEEP	17	20	-1	59	65	17	20	-1	88.990846	59	65	0.230769	1	0	0	0	0	0	0	1	0	--	--		0	T			EPB41L4B_uc004bea.2_Silent_p.T369T	232	GBM-32-1982-TP	p.T369T	C	TGTTTCCTGGCGTCCGCAGTC	NM_019114	NP_061987	112017853	Q9H329	E41LB_HUMAN	0			11	1402	-	T	T			Silent	369			FERM.			
EPB42	2038		GRCh37	15	43499515	43499515	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000300215.3:c.1290G>A	p.Glu430=	p.E430=	ENST00000300215		430	gaG/gaA	0																																																																																																																																																																																																																																												
EPC1	0	broad.mit.edu	GRCh37	10	32580102	32580102	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-26-5136-01	TCGA-26-5136-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263062.8:c.964A>G	p.Lys322Glu	p.K322E	ENST00000263062	NM_025209.3	322	Aaa/Gaa	0			1			C	K/E	uc001iwg.1	protein_coding	YES	CCDS7172.1			964/2511									ovary(3)|central_nervous_system(1)	4	c.(964-966)AAA>GAA			hmmpanther:PTHR14898,hmmpanther:PTHR14898:SF3	enhancer of polycomb 1				ENSP00000263062		15-Jun									COSM2157116	15-Jun	.		ENST00000263062	Transcript			histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		ENSG00000120616	g.chr10:32580102T>C	19876			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=EPC1_HUMAN&rb=150&re=349&var=K322E	NA	getma.org/?cm=var&var=hg19,10,32580102,T,C&fts=all	K322E	--	--	1																																		EPC1_uc001iwi.3_Missense_Mutation_p.K272E|EPC1_uc009xlt.2_Missense_Mutation_p.K272E|EPC1_uc001iwh.1_Missense_Mutation_p.K322E	1	1		probably_damaging(0.993)	p.K322E	NM_025209	NP_079485		deleterious(0.05)	1	EPC1_HUMAN	EPC1	HGNC	Q9H2F5	EPC1_HUMAN			Q68DJ2_HUMAN		6	1234	-		Prostate(175;0.0199)	UPI000006F77F	322					SNV	EPC1,missense_variant,p.Lys322Glu,ENST00000319778,NM_001272004.1,NM_001272019.1;EPC1,missense_variant,p.Lys272Glu,ENST00000375110,NM_001282391.1;EPC1,missense_variant,p.Lys322Glu,ENST00000263062,NM_025209.3;EPC1,upstream_gene_variant,,ENST00000479380,;EPC1,non_coding_transcript_exon_variant,,ENST00000495790,;	uc001iwg.1	c.964A>G	1234/2913	3	3			c.964A>G						10	SNP	c.(964-966)AAA>GAA	11	11			ovary(3)|central_nervous_system(1)	4	Broad	enhancer of polycomb 1			32580102		0.318	ENSG00000120616	5075	g.chr10:32580102T>C	histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex								180.1275	KEEP	26	23	-1	11	13	26	23	-1	182.276676	11	13	0.685714	1	0	0	0	0	1	0	0	0	--	--		0	C			EPC1_uc001iwi.3_Missense_Mutation_p.K272E|EPC1_uc009xlt.2_Missense_Mutation_p.K272E|EPC1_uc001iwh.1_Missense_Mutation_p.K322E	185	GBM-26-5136-TP	p.K322E	T	TTATTAACTTTGAACTCCTTC	NM_025209	NP_079485	32580102	Q9H2F5	EPC1_HUMAN	0			6	1234	-	C	C		Prostate(175;0.0199)	Missense_Mutation	322						
EPC2	26122		GRCh37	2	149541164	149541164	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000258484.6:c.1858-2A>G		p.X620_splice	ENST00000258484	NM_015630.3	620		0																																																																																																																																																																																																																																												
EPDR1	54749	broad.mit.edu	GRCh37	7	37989842	37989842	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0174-01	TCGA-06-0174-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000199448.4:c.519T>C	p.Tyr173=	p.Y173=	ENST00000199448	NM_017549.4	173	taT/taC	0			1			C	Y	uc003tfp.2	protein_coding	YES	CCDS5454.2			519/675									upper_aerodigestive_tract(1)	1	c.(877-879)TAT>TAC			hmmpanther:PTHR10697:SF1,hmmpanther:PTHR10697,Pfam_domain:PF00811,SMART_domains:SM00026	ependymin related protein 1 precursor				ENSP00000199448		3-Mar									COSM3412020	3-Mar	.		ENST00000199448	Transcript			cell-matrix adhesion	extracellular region	calcium ion binding	ENSG00000086289	g.chr7:37989842T>C	17572			LOW								--	--	1																																		EPDR1_uc003tfq.2_3'UTR|EPDR1_uc010kxh.2_Silent_p.Y112Y	1	1			p.Y293Y	NM_017549	NP_060019			1	EPDR1_HUMAN	EPDR1	HGNC	Q9UM22	EPDR1_HUMAN			D6RIH7_HUMAN		3	898	+			UPI000012EF12	173					SNV	EPDR1,synonymous_variant,p.=,ENST00000199448,NM_017549.4;EPDR1,synonymous_variant,p.=,ENST00000559325,;EPDR1,synonymous_variant,p.=,ENST00000425345,NM_001242948.1;EPDR1,synonymous_variant,p.=,ENST00000476620,;EPDR1,3_prime_UTR_variant,,ENST00000423717,NM_001242946.1;SFRP4,intron_variant,,ENST00000447200,;	uc003tfp.2	c.879T>C	898/2599	3	3			c.879T>C						7	SNP	c.(877-879)TAT>TAC	9	9			upper_aerodigestive_tract(1)	1	Broad	ependymin related protein 1 precursor			37989842		0.388	ENSG00000086289	5078	g.chr7:37989842T>C	cell-matrix adhesion	extracellular region	calcium ion binding							51.335125	KEEP	14	14	-1	70	73	14	14	-1	67.662226	70	73	0.157534	1	0	0	0	0	0	0	1	0	--	--		0	C			EPDR1_uc003tfq.2_3'UTR|EPDR1_uc010kxh.2_Silent_p.Y112Y	37	GBM-06-0174-TP	p.Y293Y	T	AGGATTGCTATCCTGTCCAGG	NM_017549	NP_060019	37989842	Q9UM22	EPDR1_HUMAN	0			3	898	+	C	C			Silent	173						
EPG5	57724	broad.mit.edu	GRCh37	18	43493732	43493732	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01	TCGA-06-0173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282041.5:c.3755G>A	p.Arg1252Gln	p.R1252Q	ENST00000282041	NM_020964.2	1252	cGg/cAg	0		T:0	1	T:0		T	R/Q	uc002lbm.2	protein_coding	YES	CCDS11926.2			3755/7740										0	c.(3754-3756)CGG>CAG			hmmpanther:PTHR31139,hmmpanther:PTHR31139:SF4	hypothetical protein LOC57724		T:0.001		ENSP00000282041	T:0	21/44	1.66E-05		8.64E-05					6.06E-05	rs186446511,COSM3403541	21/44	.		ENST00000282041	Transcript	1	T:0.0004	autophagy			ENSG00000152223	g.chr18:43493732C>T	29331			MODERATE		1.955	medium	getma.org/?cm=msa&ty=f&p=EPG5_HUMAN&rb=219&re=2577&var=R1252Q	NA	getma.org/?cm=var&var=hg19,18,43493732,C,T&fts=all	R1252Q	--	--	1																																		KIAA1632_uc002lbo.1_Missense_Mutation_p.R1252Q|KIAA1632_uc010xcq.1_5'UTR|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.R127Q	0,1	1		probably_damaging(0.947)	p.R1252Q	NM_020964	NP_066015	T:0.001	tolerated(0.17)	0,1	EPG5_HUMAN	EPG5	HGNC	Q9HCE0	EPG5_HUMAN			Q9BYJ3_HUMAN,Q9BTI0_HUMAN		21	3855	-			UPI00004F6F8A	1252					SNV	EPG5,missense_variant,p.Arg1252Gln,ENST00000282041,NM_020964.2;EPG5,non_coding_transcript_exon_variant,,ENST00000585906,;EPG5,downstream_gene_variant,,ENST00000586655,;EPG5,missense_variant,p.Arg127Gln,ENST00000587884,;EPG5,missense_variant,p.Arg127Gln,ENST00000592272,;EPG5,missense_variant,p.Arg127Gln,ENST00000590884,;EPG5,non_coding_transcript_exon_variant,,ENST00000587974,;	uc002lbm.2	c.3755G>A	3790/12633	2	2			c.3755G>A						18	SNP	c.(3754-3756)CGG>CAG	43	43				0	Broad	hypothetical protein LOC57724			43493732		0.488	ENSG00000152223	8110	g.chr18:43493732C>T	autophagy									-17.158618	KEEP	4	1	-1	69	59	4	1	-1	11.276297	69	59	0.04	1	0	0	0	0	1	0	0	0	--	--		0	T			KIAA1632_uc002lbo.1_Missense_Mutation_p.R1252Q|KIAA1632_uc010xcq.1_5'UTR|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.R127Q	36	GBM-06-0173-TP	p.R1252Q	C	AATAACTCTCCGGAGCTGGGA	NM_020964	NP_066015	43493732	Q9HCE0	EPG5_HUMAN	0			21	3855	-	T	T			Missense_Mutation	1252						
EPG5	0	broad.mit.edu	GRCh37	18	43488003	43488003	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-28-6450-01	TCGA-28-6450-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282041.5:c.4249C>T	p.Gln1417Ter	p.Q1417*	ENST00000282041	NM_020964.2	1417	Caa/Taa	0			1			A	Q/*	uc002lbm.2	protein_coding	YES	CCDS11926.2			4249/7740										0	c.(4249-4251)CAA>TAA			hmmpanther:PTHR31139,hmmpanther:PTHR31139:SF4	hypothetical protein LOC57724				ENSP00000282041		24/44	0.000348	0.000308		0.000117	0.00275	0.00018		6.06E-05	rs761448533,COSM3748036	24/44	common_variant		ENST00000282041	Transcript	1		autophagy			ENSG00000152223	g.chr18:43488003G>A	29331			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,18,43488003,G,A&fts=all	Q1417*	--	--	1																																		KIAA1632_uc002lbo.1_Nonsense_Mutation_p.Q1417*|KIAA1632_uc010xcq.1_5'UTR|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Nonsense_Mutation_p.Q292*	0,1	1			p.Q1417*	NM_020964	NP_066015			0,1	EPG5_HUMAN	EPG5	HGNC	Q9HCE0	EPG5_HUMAN			Q9BYJ3_HUMAN,Q9BTI0_HUMAN		24	4349	-			UPI00004F6F8A	1417					SNV	EPG5,stop_gained,p.Gln1417Ter,ENST00000282041,NM_020964.2;EPG5,non_coding_transcript_exon_variant,,ENST00000585906,;EPG5,stop_gained,p.Gln292Ter,ENST00000587884,;EPG5,stop_gained,p.Gln292Ter,ENST00000592272,;EPG5,stop_gained,p.Gln292Ter,ENST00000590884,;EPG5,non_coding_transcript_exon_variant,,ENST00000587974,;	uc002lbm.2	c.4249C>T	4284/12633	5	2			c.4249C>T						18	SNP	c.(4249-4251)CAA>TAA	43	43				0	Broad	hypothetical protein LOC57724			43488003		0.328	ENSG00000152223	8110	g.chr18:43488003G>A	autophagy									-2.274474	KEEP	6	3	-1	34	29	6	3	-1	6.740596	34	29	0.134328	1	0	0	0	0	0	1	0	0	--	--		0	A			KIAA1632_uc002lbo.1_Nonsense_Mutation_p.Q1417*|KIAA1632_uc010xcq.1_5'UTR|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Nonsense_Mutation_p.Q292*	227	GBM-28-6450-TP	p.Q1417*	G	TCTCCTTTTTGAAAATTCTCA	NM_020964	NP_066015	43488003	Q9HCE0	EPG5_HUMAN	0			24	4349	-	A	A			Nonsense_Mutation	1417						
EPGN	255324	broad.mit.edu	GRCh37	4	75174232	75174232	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T			TCGA-06-6388-01	TCGA-06-6388-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000413830.1:c.-19A>T		p.*7*	ENST00000413830	NM_001270989.1			0			1			T		uc003hic.1	protein_coding	YES	CCDS59478.1			-/465										0	c.(-20--16)AAAGT>AATGT				SubName: Full=cDNA FLJ75542;				ENSP00000411898		5-Jan										5-Jan	.		ENST00000413830	Transcript			activation of MAPK activity|angiogenesis|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	extracellular region|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity	ENSG00000182585	g.chr4:75174232A>T	17470			MODIFIER								--	--	1																																		uc003hhv.1_Intron|EPGN_uc003hhw.2_Translation_Start_Site|EPGN_uc003hhx.1_RNA|EPGN_uc003hhy.1_Translation_Start_Site|EPGN_uc003hhz.1_Translation_Start_Site|EPGN_uc010iin.1_Translation_Start_Site|EPGN_uc003hia.1_Translation_Start_Site|EPGN_uc003hib.1_Translation_Start_Site		1									EPGN_HUMAN	EPGN	HGNC	Q6UW88	EPGN_HUMAN	Lung(101;0.196)		A0PK19_HUMAN		1	29	+			UPI00003D37D1						SNV	EPGN,5_prime_UTR_variant,,ENST00000413830,NM_001270989.1;EPGN,5_prime_UTR_variant,,ENST00000332112,;EPGN,upstream_gene_variant,,ENST00000446430,;EPGN,upstream_gene_variant,,ENST00000503098,NM_001270990.1;EPGN,upstream_gene_variant,,ENST00000514968,NM_001270991.1;EPGN,upstream_gene_variant,,ENST00000502358,NM_001270992.1;EPGN,upstream_gene_variant,,ENST00000505212,NM_001270993.1;EPGN,upstream_gene_variant,,ENST00000509145,;EPGN,5_prime_UTR_variant,,ENST00000502835,;	uc003hic.1	c.-18A>T	43/1196	2	2			c.-18A>T						4	SNP	c.(-20--16)AAAGT>AATGT	46	46				0	Broad	SubName: Full=cDNA FLJ75542;			75174232		0.363	ENSG00000182585	5079	g.chr4:75174232A>T	activation of MAPK activity|angiogenesis|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	extracellular region|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity							69.626474	KEEP	16	14	-1	37	17	16	14	-1	70.850455	37	17	0.361111	1	0	0	0	0	0	0	0	0	--	--		0	T			uc003hhv.1_Intron|EPGN_uc003hhw.2_Translation_Start_Site|EPGN_uc003hhx.1_RNA|EPGN_uc003hhy.1_Translation_Start_Site|EPGN_uc003hhz.1_Translation_Start_Site|EPGN_uc010iin.1_Translation_Start_Site|EPGN_uc003hia.1_Translation_Start_Site|EPGN_uc003hib.1_Translation_Start_Site	104	GBM-06-6388-TP		A	AGAGAAAGAAAGTTAAGCAAC			75174232	Q6UW88	EPGN_HUMAN	0	Lung(101;0.196)		1	29	+	T	T			Translation_Start_Site							
EPHA1	2041	broad.mit.edu	GRCh37	7	143095767	143095767	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-06-0649-01	TCGA-06-0649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275815.3:c.1263C>G	p.Ala421=	p.A421=	ENST00000275815	NM_005232.4	421	gcC/gcG	0			1			C	A	uc003wcz.2	protein_coding	YES	CCDS5884.1			1263/2931									ovary(3)|lung(1)|breast(1)	5	c.(1261-1263)GCC>GCG			Superfamily_domains:SSF49265,PIRSF_domain:PIRSF000666,SMART_domains:SM00060,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF28,PROSITE_profiles:PS50853	ephrin receptor EphA1 precursor				ENSP00000275815		18-Jun									COSM3411727,COSM3411728	18-Jun	.		ENST00000275815	Transcript				integral to plasma membrane	ATP binding|ephrin receptor activity	ENSG00000146904	g.chr7:143095767G>C	3385			LOW								--	--	1																																			1,1	1			p.A421A	NM_005232	NP_005223			1,1	EPHA1_HUMAN	EPHA1	HGNC	P21709	EPHA1_HUMAN					6	1350	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	UPI000013DA82	421			Extracellular (Potential).|Fibronectin type-III 1.		SNV	EPHA1,synonymous_variant,p.=,ENST00000275815,NM_005232.4;EPHA1,non_coding_transcript_exon_variant,,ENST00000488068,;EPHA1,non_coding_transcript_exon_variant,,ENST00000479459,;EPHA1,downstream_gene_variant,,ENST00000497891,;EPHA1,upstream_gene_variant,,ENST00000494989,;EPHA1,upstream_gene_variant,,ENST00000465208,;	uc003wcz.2	c.1263C>G	1350/3363	4	4			c.1263C>G						7	SNP	c.(1261-1263)GCC>GCG	36	36			ovary(3)|lung(1)|breast(1)	5	Broad	ephrin receptor EphA1 precursor			143095767		0.607	ENSG00000146904	5080	g.chr7:143095767G>C		integral to plasma membrane	ATP binding|ephrin receptor activity			379			379	-9.128601	KEEP	5	3	-1	83	59	5	3	-1	16.882231	83	59	0.061538	1	0	0	0	0	0	0	1	0	--	--		0	C				62	GBM-06-0649-TP	p.A421A	G	CTCCATTTTGGGCTTCCACAT	NM_005232	NP_005223	143095767	P21709	EPHA1_HUMAN	0			6	1350	-	C	C	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	Silent	421			Extracellular (Potential).|Fibronectin type-III 1.			
EPHA1	0	broad.mit.edu	GRCh37	7	143097029	143097029	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6700-01	TCGA-06-6700-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275815.3:c.550G>A	p.Ala184Thr	p.A184T	ENST00000275815	NM_005232.4	184	Gct/Act	0			1			T	A/T	uc003wcz.2	protein_coding	YES	CCDS5884.1			550/2931									ovary(3)|lung(1)|breast(1)	5	c.(550-552)GCT>ACT			Superfamily_domains:SSF49785,SMART_domains:SM00615,PIRSF_domain:PIRSF000666,Pfam_domain:PF01404,Gene3D:2.60.120.260,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF28,PROSITE_profiles:PS51550	ephrin receptor EphA1 precursor				ENSP00000275815		18-Apr									COSM3411729,COSM3411730	18-Apr	.		ENST00000275815	Transcript				integral to plasma membrane	ATP binding|ephrin receptor activity	ENSG00000146904	g.chr7:143097029C>T	3385			MODERATE		3.06	medium	getma.org/?cm=msa&ty=f&p=EPHA1_HUMAN&rb=27&re=204&var=A184T	getma.org/pdb.php?prot=EPHA1_HUMAN&from=27&to=204&var=A184T	getma.org/?cm=var&var=hg19,7,143097029,C,T&fts=all	A184T	--	--	1																																			1,1	1		probably_damaging(0.999)	p.A184T	NM_005232	NP_005223		deleterious(0)	1,1	EPHA1_HUMAN	EPHA1	HGNC	P21709	EPHA1_HUMAN					4	637	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	UPI000013DA82	184			Extracellular (Potential).		SNV	EPHA1,missense_variant,p.Ala184Thr,ENST00000275815,NM_005232.4;EPHA1,non_coding_transcript_exon_variant,,ENST00000488068,;EPHA1,downstream_gene_variant,,ENST00000497891,;EPHA1,upstream_gene_variant,,ENST00000494989,;EPHA1,upstream_gene_variant,,ENST00000465208,;EPHA1,upstream_gene_variant,,ENST00000479459,;	uc003wcz.2	c.550G>A	637/3363	1	1			c.550G>A						7	SNP	c.(550-552)GCT>ACT	4	4			ovary(3)|lung(1)|breast(1)	5	Broad	ephrin receptor EphA1 precursor			143097029		0.617	ENSG00000146904	5080	g.chr7:143097029C>T		integral to plasma membrane	ATP binding|ephrin receptor activity			379			379	6.885148	KEEP	1	5	-1	18	8	1	5	-1	9.194831	18	8	0.173913	1	0	0	0	0	1	0	0	0	--	--		0	T				114	GBM-06-6700-TP	p.A184T	C	TTGTGGAAAGCGAGGTAGAGG	NM_005232	NP_005223	143097029	P21709	EPHA1_HUMAN	0			4	637	-	T	T	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	Missense_Mutation	184			Extracellular (Potential).			
EPHA1	0	broad.mit.edu	GRCh37	7	143098437	143098437	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5218-01	TCGA-28-5218-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275815.3:c.412C>T	p.Arg138Ter	p.R138*	ENST00000275815	NM_005232.4	138	Cga/Tga	0			1			A	R/*	uc003wcz.2	protein_coding	YES	CCDS5884.1			412/2931									ovary(3)|lung(1)|breast(1)	5	c.(412-414)CGA>TGA			Superfamily_domains:SSF49785,SMART_domains:SM00615,PIRSF_domain:PIRSF000666,Pfam_domain:PF01404,Gene3D:2.60.120.260,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF28,PROSITE_profiles:PS51550	ephrin receptor EphA1 precursor				ENSP00000275815		18-Mar									COSM3411731,COSM3411732	18-Mar	.		ENST00000275815	Transcript				integral to plasma membrane	ATP binding|ephrin receptor activity	ENSG00000146904	g.chr7:143098437G>A	3385			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,143098437,G,A&fts=all	R138*	--	--	1																																			1,1	1			p.R138*	NM_005232	NP_005223			1,1	EPHA1_HUMAN	EPHA1	HGNC	P21709	EPHA1_HUMAN					3	499	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	UPI000013DA82	138			Extracellular (Potential).		SNV	EPHA1,stop_gained,p.Arg138Ter,ENST00000275815,NM_005232.4;EPHA1,non_coding_transcript_exon_variant,,ENST00000488068,;EPHA1,non_coding_transcript_exon_variant,,ENST00000497891,;EPHA1,upstream_gene_variant,,ENST00000494989,;EPHA1,upstream_gene_variant,,ENST00000479459,;	uc003wcz.2	c.412C>T	499/3363	5	2			c.412C>T						7	SNP	c.(412-414)CGA>TGA	36	36			ovary(3)|lung(1)|breast(1)	5	Broad	ephrin receptor EphA1 precursor			143098437		0.592	ENSG00000146904	5080	g.chr7:143098437G>A		integral to plasma membrane	ATP binding|ephrin receptor activity			379			379	94.319126	KEEP	25	36	-1	170	181	25	36	-1	136.377954	170	181	0.154472	1	0	0	0	0	0	1	0	0	--	--		0	A				224	GBM-28-5218-TP	p.R138*	G	AAGGGCCGTCGGAGCTGAATG	NM_005232	NP_005223	143098437	P21709	EPHA1_HUMAN	0			3	499	-	A	A	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	Nonsense_Mutation	138			Extracellular (Potential).			
EPHA1	0	broad.mit.edu	GRCh37	7	143095154	143095154	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275815.3:c.1474C>T	p.Arg492Trp	p.R492W	ENST00000275815	NM_005232.4	492	Cgg/Tgg	0			1			A	R/W	uc003wcz.2	protein_coding	YES	CCDS5884.1			1474/2931									ovary(3)|lung(1)|breast(1)	5	c.(1474-1476)CGG>TGG			Superfamily_domains:SSF49265,PIRSF_domain:PIRSF000666,SMART_domains:SM00060,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF28,PROSITE_profiles:PS50853	ephrin receptor EphA1 precursor				ENSP00000275815		18-Aug	8.24E-06					1.50E-05			rs756203512,COSM167118,COSM3411726	18-Aug	.		ENST00000275815	Transcript				integral to plasma membrane	ATP binding|ephrin receptor activity	ENSG00000146904	g.chr7:143095154G>A	3385			MODERATE		-0.69	neutral	getma.org/?cm=msa&ty=f&p=EPHA1_HUMAN&rb=451&re=528&var=R492W	getma.org/pdb.php?prot=EPHA1_HUMAN&from=451&to=528&var=R492W	getma.org/?cm=var&var=hg19,7,143095154,G,A&fts=all	R492W	--	--	1																																			0,1,1	1		benign(0.001)	p.R492W	NM_005232	NP_005223		tolerated(0.13)	0,1,1	EPHA1_HUMAN	EPHA1	HGNC	P21709	EPHA1_HUMAN					8	1561	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	UPI000013DA82	492			Extracellular (Potential).|Fibronectin type-III 2.		SNV	EPHA1,missense_variant,p.Arg492Trp,ENST00000275815,NM_005232.4;EPHA1,non_coding_transcript_exon_variant,,ENST00000488068,;EPHA1,non_coding_transcript_exon_variant,,ENST00000479459,;EPHA1,downstream_gene_variant,,ENST00000497891,;EPHA1,upstream_gene_variant,,ENST00000494989,;EPHA1,upstream_gene_variant,,ENST00000465208,;	uc003wcz.2	c.1474C>T	1561/3363	2	2			c.1474C>T						7	SNP	c.(1474-1476)CGG>TGG	45	45			ovary(3)|lung(1)|breast(1)	5	Broad	ephrin receptor EphA1 precursor			143095154		0.572	ENSG00000146904	5080	g.chr7:143095154G>A		integral to plasma membrane	ATP binding|ephrin receptor activity		p.R492W(HEC151-Tumor)	379		p.R492W(HEC151-Tumor)	379	90.625963	KEEP	21	19	-1	60	59	21	19	-1	99.022282	60	59	0.25	1	0	0	0	0	1	0	0	0	--	--		0	A				271	GBM-76-4932-TP	p.R492W	G	ATCTGGTACCGTTCTTCATCC	NM_005232	NP_005223	143095154	P21709	EPHA1_HUMAN	0			8	1561	-	A	A	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	Missense_Mutation	492			Extracellular (Potential).|Fibronectin type-III 2.			
EPHA1	2041		GRCh37	7	143097029	143097029	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000275815.3:c.550G>A	p.Ala184Thr	p.A184T	ENST00000275815	NM_005232.4	184	Gct/Act	0																																																																																																																																																																																																																																												
EPHA10	284656	broad.mit.edu	GRCh37	1	38197175	38197175	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01	TCGA-06-2564-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373048.4:c.1571G>A	p.Arg524His	p.R524H	ENST00000373048	NM_001099439.1	524	cGc/cAc	0			1			T	R/H	uc009vvi.2	protein_coding	YES	CCDS41305.1			1571/3027									breast(4)|stomach(3)|lung(1)	8	c.(1570-1572)CGC>CAC			PROSITE_profiles:PS50853,hmmpanther:PTHR24416:SF267,hmmpanther:PTHR24416,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF49265	EPH receptor A10 isofom 3				ENSP00000362139		17-Jul	8.28E-06	0.000102							rs749221168,COSM2152965	17-Jul	.		ENST00000373048	Transcript				extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	ENSG00000183317	g.chr1:38197175C>T	19987			MODERATE		0.75	neutral	getma.org/?cm=msa&ty=f&p=EPHAA_HUMAN&rb=458&re=537&var=R524H	getma.org/pdb.php?prot=EPHAA_HUMAN&from=458&to=537&var=R524H	getma.org/?cm=var&var=hg19,1,38197175,C,T&fts=all	R524H	--	--	1																																		EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA	0,1	1		probably_damaging(0.972)	p.R524H	NM_001099439	NP_001092909		tolerated(0.55)	0,1	EPHAA_HUMAN	EPHA10	HGNC	Q5JZY3	EPHAA_HUMAN					7	1657	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	UPI00001A41BD	524			Fibronectin type-III 2.|Extracellular (Potential).		SNV	EPHA10,missense_variant,p.Arg524His,ENST00000373048,NM_001099439.1;EPHA10,missense_variant,p.Arg524His,ENST00000427468,;EPHA10,missense_variant,p.Arg19His,ENST00000540011,;EPHA10,missense_variant,p.Arg19His,ENST00000330210,;EPHA10,non_coding_transcript_exon_variant,,ENST00000446149,;EPHA10,missense_variant,p.Arg82His,ENST00000437645,;EPHA10,missense_variant,p.Arg24His,ENST00000534097,;EPHA10,3_prime_UTR_variant,,ENST00000525749,;EPHA10,upstream_gene_variant,,ENST00000432874,;	uc009vvi.2	c.1571G>A	1571/5425	2	2			c.1571G>A						1	SNP	c.(1570-1572)CGC>CAC	18	18			breast(4)|stomach(3)|lung(1)	8	Broad	EPH receptor A10 isofom 3			38197175		0.592	ENSG00000183317	5081	g.chr1:38197175C>T		extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			328			328	181.358831	KEEP	49	42	-1	73	75	49	42	-1	183.380801	73	75	0.385057	1	0	0	0	0	1	0	0	0	--	--		0	T			EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA	87	GBM-06-2564-TP	p.R524H	C	AAAGACGTAGCGGGTAGCCGG	NM_001099439	NP_001092909	38197175	Q5JZY3	EPHAA_HUMAN	0			7	1657	-	T	T	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	Missense_Mutation	524			Fibronectin type-III 2.|Extracellular (Potential).			
EPHA10	0	broad.mit.edu	GRCh37	1	38197144	38197144	+	synonymous_variant	Silent	SNP	C	C	T	rs77925917	by1000genomes	TCGA-06-6701-01	TCGA-06-6701-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373048.4:c.1602G>A	p.Pro534=	p.P534=	ENST00000373048	NM_001099439.1	534	ccG/ccA	0	T:0.0016	T:0.0015	1	T:0		T	P	uc009vvi.2	protein_coding	YES	CCDS41305.1			1602/3027									breast(4)|stomach(3)|lung(1)	8	c.(1600-1602)CCG>CCA			PROSITE_profiles:PS50853,hmmpanther:PTHR24416:SF267,hmmpanther:PTHR24416,SMART_domains:SM00060,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF49265	EPH receptor A10 isofom 3		T:0	T:0	ENSP00000362139	T:0	17-Jul	0.000141	0.00143	0.000259						rs77925917,COSM414944	17-Jul	common_variant		ENST00000373048	Transcript		T:0.0004		extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	ENSG00000183317	g.chr1:38197144C>T	19987			LOW								--	--	1																																		EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA	0,1	1			p.P534P	NM_001099439	NP_001092909	T:0		0,1	EPHAA_HUMAN	EPHA10	HGNC	Q5JZY3	EPHAA_HUMAN					7	1688	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	UPI00001A41BD	534			Fibronectin type-III 2.|Extracellular (Potential).		SNV	EPHA10,synonymous_variant,p.=,ENST00000373048,NM_001099439.1;EPHA10,synonymous_variant,p.=,ENST00000427468,;EPHA10,synonymous_variant,p.=,ENST00000540011,;EPHA10,synonymous_variant,p.=,ENST00000330210,;EPHA10,non_coding_transcript_exon_variant,,ENST00000446149,;EPHA10,synonymous_variant,p.=,ENST00000437645,;EPHA10,synonymous_variant,p.=,ENST00000432874,;EPHA10,synonymous_variant,p.=,ENST00000534097,;EPHA10,3_prime_UTR_variant,,ENST00000525749,;	uc009vvi.2	c.1602G>A	1602/5425	1	1			c.1602G>A						1	SNP	c.(1600-1602)CCG>CCA	9	9			breast(4)|stomach(3)|lung(1)	8	Broad	EPH receptor A10 isofom 3			38197144		0.597	ENSG00000183317	5081	g.chr1:38197144C>T		extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			328			328	-26.672696	KEEP	2	2	-1	74	79	2	2	-1	6.959305	74	79	0.028986	1	0	0	0	0	0	0	1	0	--	--		0	T			EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA	115	GBM-06-6701-TP	p.P534P	C	AGGATGGCCCCGGGGAAGCGG	NM_001099439	NP_001092909	38197144	Q5JZY3	EPHAA_HUMAN	0			7	1688	-	T	T	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	Silent	534			Fibronectin type-III 2.|Extracellular (Potential).			
EPHA10	0	broad.mit.edu	GRCh37	1	38227382	38227382	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373048.4:c.545C>T	p.Pro182Leu	p.P182L	ENST00000373048	NM_001099439.1	182	cCg/cTg	0			1			A	P/L	uc009vvi.2	protein_coding	YES	CCDS41305.1			545/3027									breast(4)|stomach(3)|lung(1)	8	c.(544-546)CCG>CTG			PROSITE_profiles:PS51550,hmmpanther:PTHR24416:SF267,hmmpanther:PTHR24416,Pfam_domain:PF01404,Gene3D:2.60.120.260,SMART_domains:SM00615,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF49785	EPH receptor A10 isofom 3				ENSP00000362139		17-Mar									COSM3400741,COSM3400740	17-Mar	.		ENST00000373048	Transcript				extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	ENSG00000183317	g.chr1:38227382G>A	19987			MODERATE		3.2	medium	getma.org/?cm=msa&ty=f&p=EPHAA_HUMAN&rb=35&re=211&var=P182L	getma.org/pdb.php?prot=EPHAA_HUMAN&from=35&to=211&var=P182L	getma.org/?cm=var&var=hg19,1,38227382,G,A&fts=all	P182L	--	--	1																																		EPHA10_uc001cbw.3_Missense_Mutation_p.P182L	1,1	1		probably_damaging(0.999)	p.P182L	NM_001099439	NP_001092909		deleterious(0.02)	1,1	EPHAA_HUMAN	EPHA10	HGNC	Q5JZY3	EPHAA_HUMAN					3	631	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	UPI00001A41BD	182			Extracellular (Potential).		SNV	EPHA10,missense_variant,p.Pro182Leu,ENST00000373048,NM_001099439.1;EPHA10,missense_variant,p.Pro182Leu,ENST00000427468,;EPHA10,missense_variant,p.Pro182Leu,ENST00000319637,NM_173641.2;	uc009vvi.2	c.545C>T	545/5425	2	2			c.545C>T						1	SNP	c.(544-546)CCG>CTG	23	23			breast(4)|stomach(3)|lung(1)	8	Broad	EPH receptor A10 isofom 3			38227382		0.657	ENSG00000183317	5081	g.chr1:38227382G>A		extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			328			328	47.027378	KEEP	10	11	-1	25	41	10	11	-1	52.010248	25	41	0.233766	1	0	0	0	0	1	0	0	0	--	--		0	A			EPHA10_uc001cbw.3_Missense_Mutation_p.P182L	125	GBM-12-3649-TP	p.P182L	G	CCGGCTGAGCGGTCCGATCTC	NM_001099439	NP_001092909	38227382	Q5JZY3	EPHAA_HUMAN	0			3	631	-	A	A	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	Missense_Mutation	182			Extracellular (Potential).			
EPHA10	0	broad.mit.edu	GRCh37	1	38227511	38227511	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373048.4:c.416G>A	p.Arg139His	p.R139H	ENST00000373048	NM_001099439.1	139	cGt/cAt	0	T:0		1			T	R/H	uc009vvi.2	protein_coding	YES	CCDS41305.1			416/3027									breast(4)|stomach(3)|lung(1)	8	c.(415-417)CGT>CAT			Low_complexity_(Seg):seg,PROSITE_profiles:PS51550,hmmpanther:PTHR24416:SF267,hmmpanther:PTHR24416,Pfam_domain:PF01404,Gene3D:2.60.120.260,SMART_domains:SM00615,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF49785	EPH receptor A10 isofom 3			T:0.0001	ENSP00000362139		17-Mar	8.24E-06					1.52E-05			rs370045860,COSM909047,COSM3400743	17-Mar	.		ENST00000373048	Transcript				extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	ENSG00000183317	g.chr1:38227511C>T	19987			MODERATE		1.795	low	getma.org/?cm=msa&ty=f&p=EPHAA_HUMAN&rb=35&re=211&var=R139H	getma.org/pdb.php?prot=EPHAA_HUMAN&from=35&to=211&var=R139H	getma.org/?cm=var&var=hg19,1,38227511,C,T&fts=all	R139H	--	--	1																																		EPHA10_uc001cbw.3_Missense_Mutation_p.R139H	0,1,1	1		possibly_damaging(0.855)	p.R139H	NM_001099439	NP_001092909		tolerated(0.11)	0,1,1	EPHAA_HUMAN	EPHA10	HGNC	Q5JZY3	EPHAA_HUMAN					3	502	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	UPI00001A41BD	139			Extracellular (Potential).		SNV	EPHA10,missense_variant,p.Arg139His,ENST00000373048,NM_001099439.1;EPHA10,missense_variant,p.Arg139His,ENST00000427468,;EPHA10,missense_variant,p.Arg139His,ENST00000319637,NM_173641.2;	uc009vvi.2	c.416G>A	416/5425	2	2			c.416G>A						1	SNP	c.(415-417)CGT>CAT	38	38			breast(4)|stomach(3)|lung(1)	8	Broad	EPH receptor A10 isofom 3			38227511		0.657	ENSG00000183317	5081	g.chr1:38227511C>T		extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			328			328	144.002682	KEEP	27	22	-1	4	6	27	22	-1	149.688638	4	6	0.833333	1	0	0	0	0	1	0	0	0	--	--		0	T			EPHA10_uc001cbw.3_Missense_Mutation_p.R139H	159	GBM-19-1390-TP	p.R139H	C	GGGACGCCCACGGCCCAGGTC	NM_001099439	NP_001092909	38227511	Q5JZY3	EPHAA_HUMAN	0			3	502	-	T	T	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	Missense_Mutation	139			Extracellular (Potential).			
EPHA10	0	broad.mit.edu	GRCh37	1	38227109	38227109	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1833-01	TCGA-27-1833-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373048.4:c.818C>T	p.Ala273Val	p.A273V	ENST00000373048	NM_001099439.1	273	gCg/gTg	0			1			A	A/V	uc009vvi.2	protein_coding	YES	CCDS41305.1			818/3027									breast(4)|stomach(3)|lung(1)	8	c.(817-819)GCG>GTG			hmmpanther:PTHR24416:SF267,hmmpanther:PTHR24416,PROSITE_patterns:PS00791,Gene3D:2gy5A03,PIRSF_domain:PIRSF000666	EPH receptor A10 isofom 3				ENSP00000362139		17-Mar	8.49E-06					1.58E-05			rs761133986,COSM3400735,COSM3400734	17-Mar	.		ENST00000373048	Transcript				extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	ENSG00000183317	g.chr1:38227109G>A	19987			MODERATE		2.375	medium	getma.org/?cm=msa&ty=f&p=EPHAA_HUMAN&rb=212&re=338&var=A273V	getma.org/pdb.php?prot=EPHAA_HUMAN&from=212&to=338&var=A273V	getma.org/?cm=var&var=hg19,1,38227109,G,A&fts=all	A273V	--	--	1																																		EPHA10_uc001cbw.3_Missense_Mutation_p.A273V	0,1,1	1		probably_damaging(0.997)	p.A273V	NM_001099439	NP_001092909		tolerated(0.12)	0,1,1	EPHAA_HUMAN	EPHA10	HGNC	Q5JZY3	EPHAA_HUMAN					3	904	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	UPI00001A41BD	273			Extracellular (Potential).		SNV	EPHA10,missense_variant,p.Ala273Val,ENST00000373048,NM_001099439.1;EPHA10,missense_variant,p.Ala273Val,ENST00000427468,;EPHA10,missense_variant,p.Ala273Val,ENST00000319637,NM_173641.2;EPHA10,upstream_gene_variant,,ENST00000330210,;EPHA10,upstream_gene_variant,,ENST00000446149,;	uc009vvi.2	c.818C>T	818/5425	2	2			c.818C>T						1	SNP	c.(817-819)GCG>GTG	43	43			breast(4)|stomach(3)|lung(1)	8	Broad	EPH receptor A10 isofom 3			38227109		0.677	ENSG00000183317	5081	g.chr1:38227109G>A		extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			328			328	79.322343	KEEP	13	20	-1	20	30	13	20	-1	79.830909	20	30	0.410959	1	0	0	0	0	1	0	0	0	--	--		0	A			EPHA10_uc001cbw.3_Missense_Mutation_p.A273V	192	GBM-27-1833-TP	p.A273V	G	CTGGAATCCCGCGCTGCAGCT	NM_001099439	NP_001092909	38227109	Q5JZY3	EPHAA_HUMAN	0			3	904	-	A	A	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	Missense_Mutation	273			Extracellular (Potential).			
EPHA10	284656		GRCh37	1	38227194	38227194	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000373048.4:c.733G>A	p.Glu245Lys	p.E245K	ENST00000373048	NM_001099439.1	245	Gaa/Aaa	0																																																																																																																																																																																																																																												
EPHA10	284656		GRCh37	1	38227170	38227170	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000373048.4:c.757C>T	p.Arg253Cys	p.R253C	ENST00000373048	NM_001099439.1	253	Cgc/Tgc	0																																																																																																																																																																																																																																												
EPHA3	2042	broad.mit.edu	GRCh37	3	89468496	89468496	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0877-01	TCGA-06-0877-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336596.2:c.2030T>A	p.Phe677Tyr	p.F677Y	ENST00000336596	NM_005233.5	677	tTt/tAt	0			1			A	F/Y	uc003dqy.2	protein_coding	YES	CCDS2922.1			2030/2952									lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	c.(2029-2031)TTT>TAT			PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF18,hmmpanther:PTHR24416,Pfam_domain:PF07714,Gene3D:3.30.200.20,SMART_domains:SM00219,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF56112	ephrin receptor EphA3 isoform a precursor				ENSP00000337451		17-Nov									COSM2152137	17-Nov	.		ENST00000336596	Transcript	1			extracellular region|integral to plasma membrane	ATP binding	ENSG00000044524	g.chr3:89468496T>A	3387			MODERATE		1.66	low	getma.org/?cm=msa&ty=f&p=EPHA3_HUMAN&rb=621&re=878&var=F677Y	getma.org/pdb.php?prot=EPHA3_HUMAN&from=621&to=878&var=F677Y	getma.org/?cm=var&var=hg19,3,89468496,T,A&fts=all	F677Y	--	--	1				TSP Lung(6;0.00050)																														EPHA3_uc010hon.1_RNA	1	1		probably_damaging(0.996)	p.F677Y	NM_005233	NP_005224		deleterious(0)	1	EPHA3_HUMAN	EPHA3	HGNC	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)			11	2255	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	UPI0000163BE4	677			Cytoplasmic (Potential).|Protein kinase.		SNV	EPHA3,missense_variant,p.Phe677Tyr,ENST00000336596,NM_005233.5;EPHA3,missense_variant,p.Phe677Tyr,ENST00000494014,;	uc003dqy.2	c.2030T>A	2255/5809	2	2			c.2030T>A						3	SNP	c.(2029-2031)TTT>TAT	34	34			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	Broad	ephrin receptor EphA3 isoform a precursor			89468496		0.413	ENSG00000044524	5083	g.chr3:89468496T>A		extracellular region|integral to plasma membrane	ATP binding			416			416	142.314539	KEEP	28	25	-1	42	50	28	25	-1	143.924367	42	50	0.381679	1	0	0	0	0	1	0	0	0	--	--	TSP Lung(6;0.00050)	0	A			EPHA3_uc010hon.1_RNA	73	GBM-06-0877-TP	p.F677Y	T	ATGGGACAGTTTGACCACCCC	NM_005233	NP_005224	89468496	P29320	EPHA3_HUMAN	0		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	11	2255	+	A	A	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	Missense_Mutation	677			Cytoplasmic (Potential).|Protein kinase.			
EPHA3	0	broad.mit.edu	GRCh37	3	89462354	89462354	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-6701-01	TCGA-06-6701-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336596.2:c.1826T>C	p.Val609Ala	p.V609A	ENST00000336596	NM_005233.5	609	gTt/gCt	0			1			C	V/A	uc003dqy.2	protein_coding	YES	CCDS2922.1			1826/2952									lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	c.(1825-1827)GTT>GCT			hmmpanther:PTHR24416:SF18,hmmpanther:PTHR24416,Gene3D:3.30.200.20,Pfam_domain:PF14575,PIRSF_domain:PIRSF000666	ephrin receptor EphA3 isoform a precursor				ENSP00000337451		17-Oct									COSM3408897	17-Oct	.		ENST00000336596	Transcript	1			extracellular region|integral to plasma membrane	ATP binding	ENSG00000044524	g.chr3:89462354T>C	3387			MODERATE		2.655	medium	getma.org/?cm=msa&ty=f&p=EPHA3_HUMAN&rb=522&re=620&var=V609A	getma.org/pdb.php?prot=EPHA3_HUMAN&from=522&to=620&var=V609A	getma.org/?cm=var&var=hg19,3,89462354,T,C&fts=all	V609A	--	--	1				TSP Lung(6;0.00050)																														EPHA3_uc010hon.1_RNA	1	1		benign(0.022)	p.V609A	NM_005233	NP_005224		deleterious(0.01)	1	EPHA3_HUMAN	EPHA3	HGNC	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)			10	2051	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	UPI0000163BE4	609			Cytoplasmic (Potential).		SNV	EPHA3,missense_variant,p.Val609Ala,ENST00000336596,NM_005233.5;EPHA3,missense_variant,p.Val609Ala,ENST00000494014,;	uc003dqy.2	c.1826T>C	2051/5809	3	3			c.1826T>C						3	SNP	c.(1825-1827)GTT>GCT	49	49			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	Broad	ephrin receptor EphA3 isoform a precursor			89462354		0.423	ENSG00000044524	5083	g.chr3:89462354T>C		extracellular region|integral to plasma membrane	ATP binding			416			416	185.419969	KEEP	33	27	-1	36	35	33	27	-1	185.88269	36	35	0.434426	1	0	0	0	0	1	0	0	0	--	--	TSP Lung(6;0.00050)	0	C			EPHA3_uc010hon.1_RNA	115	GBM-06-6701-TP	p.V609A	T	ACCCAAGCTGTTCATGAGTTT	NM_005233	NP_005224	89462354	P29320	EPHA3_HUMAN	0		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	10	2051	+	C	C	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	Missense_Mutation	609			Cytoplasmic (Potential).			
EPHA3	2042		GRCh37	3	89478302	89478302	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000336596.2:c.2121G>A	p.Leu707=	p.L707=	ENST00000336596	NM_005233.5	707	ttG/ttA	0																																																																																																																																																																																																																																												
EPHA5	0	broad.mit.edu	GRCh37	4	66361196	66361196	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-19-1790-01	TCGA-19-1790-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273854.3:c.976A>T	p.Ser326Cys	p.S326C	ENST00000273854	NM_004439.5	326	Agt/Tgt	0			1			A	S/C	uc003hcy.2	protein_coding	YES	CCDS3513.1			976/3114									lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24	c.(976-978)AGT>TGT			hmmpanther:PTHR24416:SF17,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000666	ephrin receptor EphA5 isoform a precursor				ENSP00000273854		18-Apr									COSM2156104	18-Apr	.		ENST00000273854	Transcript			cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	ENSG00000145242	g.chr4:66361196T>A	3389			MODERATE		3.055	medium	getma.org/?cm=msa&ty=f&p=EPHA5_HUMAN&rb=234&re=358&var=S326C	getma.org/pdb.php?prot=EPHA5_HUMAN&from=234&to=358&var=S326C	getma.org/?cm=var&var=hg19,4,66361196,T,A&fts=all	S326C	--	--	1				TSP Lung(17;0.13)																														EPHA5_uc003hcx.2_Missense_Mutation_p.S257C|EPHA5_uc003hcz.2_Missense_Mutation_p.S326C|EPHA5_uc011cah.1_Missense_Mutation_p.S326C|EPHA5_uc011cai.1_Missense_Mutation_p.S326C|EPHA5_uc003hda.2_Missense_Mutation_p.S326C	1	1		probably_damaging(0.987)	p.S326C	NM_004439	NP_004430		deleterious(0)	1	EPHA5_HUMAN	EPHA5	HGNC	P54756	EPHA5_HUMAN					4	1169	-			UPI000013D9D9	326			Extracellular (Potential).|Cys-rich.		SNV	EPHA5,missense_variant,p.Ser326Cys,ENST00000273854,NM_004439.5,NM_001281765.1;EPHA5,missense_variant,p.Ser326Cys,ENST00000511294,NM_001281767.1;EPHA5,missense_variant,p.Ser326Cys,ENST00000354839,NM_182472.2;EPHA5,intron_variant,,ENST00000432638,;	uc003hcy.2	c.976A>T	1577/8266	2	2			c.976A>T						4	SNP	c.(976-978)AGT>TGT	33	33			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24	Broad	ephrin receptor EphA5 isoform a precursor			66361196		0.463	ENSG00000145242	5085	g.chr4:66361196T>A	cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			537			537	173.973317	KEEP	30	44	-1	94	91	30	44	-1	185.096944	94	91	0.267544	1	0	0	0	0	1	0	0	0	--	--	TSP Lung(17;0.13)	0	A			EPHA5_uc003hcx.2_Missense_Mutation_p.S257C|EPHA5_uc003hcz.2_Missense_Mutation_p.S326C|EPHA5_uc011cah.1_Missense_Mutation_p.S326C|EPHA5_uc011cai.1_Missense_Mutation_p.S326C|EPHA5_uc003hda.2_Missense_Mutation_p.S326C	160	GBM-19-1790-TP	p.S326C	T	TGGGTATAACTGTGAGGTGGA	NM_004439	NP_004430	66361196	P54756	EPHA5_HUMAN	0			4	1169	-	A	A			Missense_Mutation	326			Extracellular (Potential).|Cys-rich.			
EPHA5	0	broad.mit.edu	GRCh37	4	66233108	66233108	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01	TCGA-27-1830-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273854.3:c.1891G>A	p.Glu631Lys	p.E631K	ENST00000273854	NM_004439.5	631	Gaa/Aaa	0			1			T	E/K	uc003hcy.2	protein_coding	YES	CCDS3513.1			1891/3114									lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24	c.(1891-1893)GAA>AAA			hmmpanther:PTHR24416:SF17,hmmpanther:PTHR24416,Pfam_domain:PF14575,PIRSF_domain:PIRSF000666	ephrin receptor EphA5 isoform a precursor				ENSP00000273854		18-Oct									COSM3409401	18-Oct	.		ENST00000273854	Transcript			cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	ENSG00000145242	g.chr4:66233108C>T	3389			MODERATE		1.385	low	getma.org/?cm=msa&ty=f&p=EPHA5_HUMAN&rb=621&re=651&var=E631K	NA	getma.org/?cm=var&var=hg19,4,66233108,C,T&fts=all	E631K	--	--	1				TSP Lung(17;0.13)																														EPHA5_uc003hcx.2_Missense_Mutation_p.E563K|EPHA5_uc003hcz.2_Missense_Mutation_p.E609K|EPHA5_uc011cah.1_Missense_Mutation_p.E632K|EPHA5_uc011cai.1_Missense_Mutation_p.E610K|EPHA5_uc003hda.2_Missense_Mutation_p.E632K	1	1		benign(0.152)	p.E631K	NM_004439	NP_004430		deleterious(0.01)	1	EPHA5_HUMAN	EPHA5	HGNC	P54756	EPHA5_HUMAN					10	2084	-			UPI000013D9D9	631			Cytoplasmic (Potential).		SNV	EPHA5,missense_variant,p.Glu631Lys,ENST00000273854,NM_004439.5,NM_001281765.1;EPHA5,missense_variant,p.Glu632Lys,ENST00000511294,NM_001281767.1;EPHA5,missense_variant,p.Glu468Lys,ENST00000432638,;EPHA5,missense_variant,p.Glu609Lys,ENST00000354839,NM_182472.2;	uc003hcy.2	c.1891G>A	2492/8266	1	1			c.1891G>A						4	SNP	c.(1891-1893)GAA>AAA	14	14			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24	Broad	ephrin receptor EphA5 isoform a precursor			66233108		0.358	ENSG00000145242	5085	g.chr4:66233108C>T	cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			537			537	34.042964	KEEP	13	7	-1	46	37	13	7	-1	42.844002	46	37	0.177778	1	0	0	0	0	1	0	0	0	--	--	TSP Lung(17;0.13)	0	T			EPHA5_uc003hcx.2_Missense_Mutation_p.E563K|EPHA5_uc003hcz.2_Missense_Mutation_p.E609K|EPHA5_uc011cah.1_Missense_Mutation_p.E632K|EPHA5_uc011cai.1_Missense_Mutation_p.E610K|EPHA5_uc003hda.2_Missense_Mutation_p.E632K	189	GBM-27-1830-TP	p.E631K	C	TTTTCCTCTTCTGGATCTTGT	NM_004439	NP_004430	66233108	P54756	EPHA5_HUMAN	0			10	2084	-	T	T			Missense_Mutation	631			Cytoplasmic (Potential).			
EPHA5	2044		GRCh37	4	66217156	66217156	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000273854.3:c.2459G>T	p.Gly820Val	p.G820V	ENST00000273854	NM_004439.5	820	gGa/gTa	0																																																																																																																																																																																																																																												
EPHA6	285220	broad.mit.edu	GRCh37	3	96706525	96706525	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389672.5:c.802C>T	p.Arg268Cys	p.R268C	ENST00000389672	NM_001080448.2	268	Cgt/Tgt	0			1			T	R/C	uc010how.1	protein_coding	YES	CCDS46876.1			802/3393								p.R174C(1)	stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16	c.(802-804)CGT>TGT			Gene3D:2.60.120.260,Pfam_domain:PF01404,PROSITE_profiles:PS51550,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF24,SMART_domains:SM00615,Superfamily_domains:SSF49785	EPH receptor A6 isoform a				ENSP00000374323		18-Mar	9.93E-05		8.65E-05		0.000151	0.000136		6.53E-05	rs750297483,COSM225523,COSM42884,COSM2949418	18-Mar	.		ENST00000389672	Transcript				integral to plasma membrane	ATP binding|ephrin receptor activity	ENSG00000080224	g.chr3:96706525C>T	19296			MODERATE		2.505	medium	getma.org/?cm=msa&ty=f&p=EPHA6_HUMAN&rb=33&re=206&var=R173C	getma.org/pdb.php?prot=EPHA6_HUMAN&from=33&to=206&var=R173C	getma.org/?cm=var&var=hg19,3,96706525,C,T&fts=all	R173C	--	--	1																																		EPHA6_uc003drp.1_Missense_Mutation_p.R268C	0,1,1,1	1		probably_damaging(0.999)	p.R268C	NM_001080448	NP_001073917		deleterious(0)	0,1,1,1		EPHA6	HGNC	Q9UF33	EPHA6_HUMAN			H0Y8K5_HUMAN		3	845	+			UPI000004BB12	173			Ephrin-binding.|Extracellular (Potential).		SNV	EPHA6,missense_variant,p.Arg268Cys,ENST00000389672,NM_001080448.2;EPHA6,missense_variant,p.Arg268Cys,ENST00000470610,;EPHA6,missense_variant,p.Arg174Cys,ENST00000542517,NM_001278301.1;EPHA6,missense_variant,p.Arg213Cys,ENST00000506569,;	uc010how.1	c.802C>T	840/3971	1	1			c.802C>T						3	SNP	c.(802-804)CGT>TGT	3	3		p.R174C(1)	stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16	Broad	EPH receptor A6 isoform a			96706525		0.443	ENSG00000080224	5086	g.chr3:96706525C>T		integral to plasma membrane	ATP binding|ephrin receptor activity		p.R268C(VCAP-Tumor)|p.R268C(RERFLCAD2-Tumor)	480		p.R268C(VCAP-Tumor)|p.R268C(RERFLCAD2-Tumor)	480	599.843091	KEEP	110	93	-1	111	121	110	93	-1	600.418743	111	121	0.459854	1	0	0	0	0	1	0	0	0	--	--		0	T			EPHA6_uc003drp.1_Missense_Mutation_p.R268C	18	GBM-06-0137-TP	p.R268C	C	CACTGAAATTCGTGAGGTGGG	NM_001080448	NP_001073917	96706525	Q9UF33	EPHA6_HUMAN	0			3	845	+	T	T			Missense_Mutation	173			Ephrin-binding.|Extracellular (Potential).			
EPHA6	0	broad.mit.edu	GRCh37	3	97167503	97167503	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-14-1823-01	TCGA-14-1823-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389672.5:c.1823A>T	p.His608Leu	p.H608L	ENST00000389672	NM_001080448.2	608	cAc/cTc	0			1			T	H/L	uc010how.1	protein_coding	YES	CCDS46876.1			1823/3393									stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16	c.(1822-1824)CAC>CTC			Gene3D:2.60.40.10,Pfam_domain:PF00041,Prints_domain:PR00014,PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF24,SMART_domains:SM00060,Superfamily_domains:SSF49265	EPH receptor A6 isoform a				ENSP00000374323		18-Jul									COSM3408911,COSM3408910,COSM3408909	18-Jul	.		ENST00000389672	Transcript				integral to plasma membrane	ATP binding|ephrin receptor activity	ENSG00000080224	g.chr3:97167503A>T	19296			MODERATE		1.285	low	getma.org/?cm=msa&ty=f&p=EPHA6_HUMAN&rb=441&re=526&var=H513L	getma.org/pdb.php?prot=EPHA6_HUMAN&from=441&to=526&var=H513L	getma.org/?cm=var&var=hg19,3,97167503,A,T&fts=all	H513L	--	--	1																																		EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_5'UTR|EPHA6_uc003drs.3_5'UTR|EPHA6_uc003drr.3_5'UTR|EPHA6_uc003drt.2_5'UTR|EPHA6_uc010hox.1_RNA	1,1,1	1		benign(0.311)	p.H608L	NM_001080448	NP_001073917		deleterious(0.05)	1,1,1		EPHA6	HGNC	Q9UF33	EPHA6_HUMAN			H0Y8K5_HUMAN		7	1866	+			UPI000004BB12	513			Fibronectin type-III 2.|Extracellular (Potential).		SNV	EPHA6,missense_variant,p.His608Leu,ENST00000389672,NM_001080448.2;EPHA6,5_prime_UTR_variant,,ENST00000514100,NM_001278300.1;EPHA6,5_prime_UTR_variant,,ENST00000502694,NM_173655.3;EPHA6,5_prime_UTR_variant,,ENST00000442602,;EPHA6,5_prime_UTR_variant,,ENST00000477384,;EPHA6,5_prime_UTR_variant,,ENST00000503760,;EPHA6,5_prime_UTR_variant,,ENST00000508345,;	uc010how.1	c.1823A>T	1861/3971	2	2			c.1823A>T						3	SNP	c.(1822-1824)CAC>CTC	28	28			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16	Broad	EPH receptor A6 isoform a			97167503		0.448	ENSG00000080224	5086	g.chr3:97167503A>T		integral to plasma membrane	ATP binding|ephrin receptor activity			480			480	83.335914	KEEP	15	20	-1	48	32	15	20	-1	87.439561	48	32	0.287129	1	0	0	0	0	1	0	0	0	--	--		0	T			EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_5'UTR|EPHA6_uc003drs.3_5'UTR|EPHA6_uc003drr.3_5'UTR|EPHA6_uc003drt.2_5'UTR|EPHA6_uc010hox.1_RNA	147	GBM-14-1823-TP	p.H608L	A	TATGTATTTCACATCCGAGTG	NM_001080448	NP_001073917	97167503	Q9UF33	EPHA6_HUMAN	0			7	1866	+	T	T			Missense_Mutation	513			Fibronectin type-III 2.|Extracellular (Potential).			
EPHA6	0	broad.mit.edu	GRCh37	3	97124120	97124120	+	splice_donor_variant	Splice_Site	SNP	T	T	A			TCGA-19-4068-01	TCGA-19-4068-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389672.5:c.1731+2T>A		p.X577_splice	ENST00000389672	NM_001080448.2			0			1			A		uc010how.1	protein_coding	YES	CCDS46876.1			1731/3393									stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16	c.e6+2				EPH receptor A6 isoform a				ENSP00000374323											COSM3408908,COSM3408907,COSM3408906		.		ENST00000389672	Transcript				integral to plasma membrane	ATP binding|ephrin receptor activity	ENSG00000080224	g.chr3:97124120T>A	19296			HIGH	17-Jun							--	--	1																																			1,1,1	1			p.K577_splice	NM_001080448	NP_001073917			1,1,1		EPHA6	HGNC	Q9UF33	EPHA6_HUMAN			H0Y8K5_HUMAN		6	1774	+			UPI000004BB12						SNV	EPHA6,splice_donor_variant,,ENST00000389672,NM_001080448.2;	uc010how.1	c.1731_splice	-/3971	5	1			c.1731_splice						3	SNP	c.e6+2	51	51			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16	Broad	EPH receptor A6 isoform a			97124120		0.353	ENSG00000080224	5086	g.chr3:97124120T>A		integral to plasma membrane	ATP binding|ephrin receptor activity			480			480	36.96589	KEEP	10	6	-1	16	10	10	6	-1	37.57673	16	10	0.361111	1	0	0	0	0	0	0	0	1	--	--		0	A				168	GBM-19-4068-TP	p.K577_splice	T	TATGAGAAAGTAGGTCTTATT	NM_001080448	NP_001073917	97124120	Q9UF33	EPHA6_HUMAN	0			6	1774	+	A	A			Splice_Site							
EPHA6	285220		GRCh37	3	96945145	96945145	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000389672.5:c.1152C>A	p.Asn384Lys	p.N384K	ENST00000389672	NM_001080448.2	384	aaC/aaA	0																																																																																																																																																																																																																																												
EPHA7	2045	broad.mit.edu	GRCh37	6	94120845	94120845	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-0003-01	TCGA-02-0003-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369303.4:c.206G>A	p.Arg69Gln	p.R69Q	ENST00000369303	NM_004440.3	69	cGa/cAa	0			1			T	R/Q	uc003poe.2	protein_coding	YES	CCDS5031.1			206/2997								p.R69Q(1)	lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28	c.(205-207)CGA>CAA			PROSITE_profiles:PS51550,hmmpanther:PTHR24416:SF266,hmmpanther:PTHR24416,Pfam_domain:PF01404,Gene3D:2.60.120.260,PIRSF_domain:PIRSF000666,SMART_domains:SM00615,Superfamily_domains:SSF49785	ephrin receptor EphA7 precursor				ENSP00000358309		17-Mar									COSM35826,COSM3922264	17-Mar	.		ENST00000369303	Transcript				integral to plasma membrane	ATP binding|ephrin receptor activity	ENSG00000135333	g.chr6:94120845C>T	3390			MODERATE		3.085	medium	getma.org/?cm=msa&ty=f&p=EPHA7_HUMAN&rb=32&re=205&var=R69Q	getma.org/pdb.php?prot=EPHA7_HUMAN&from=32&to=205&var=R69Q	getma.org/?cm=var&var=hg19,6,94120845,C,T&fts=all	R69Q	--	--	1																																		EPHA7_uc003pof.2_Missense_Mutation_p.R69Q|EPHA7_uc011eac.1_Missense_Mutation_p.R69Q|EPHA7_uc003pog.3_Missense_Mutation_p.R69Q	1,1	1		probably_damaging(0.986)	p.R69Q	NM_004440	NP_004431		deleterious(0.05)	1,1	EPHA7_HUMAN	EPHA7	HGNC	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)			3	447	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	UPI0000044771	69			Extracellular (Potential).		SNV	EPHA7,missense_variant,p.Arg69Gln,ENST00000369303,NM_004440.3,NM_001288629.1;EPHA7,missense_variant,p.Arg69Gln,ENST00000369297,NM_001288630.1;	uc003poe.2	c.206G>A	391/6588	1	1			c.206G>A						6	SNP	c.(205-207)CGA>CAA	5	5		p.R69Q(1)	lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28	Broad	ephrin receptor EphA7 precursor			94120845		0.393	ENSG00000135333	5087	g.chr6:94120845C>T		integral to plasma membrane	ATP binding|ephrin receptor activity			635			635	234.017519	KEEP	53	39	-1	66	49	53	39	-1	234.491572	66	49	0.445652	1	0	0	0	0	1	0	0	0	--	--		0	T			EPHA7_uc003pof.2_Missense_Mutation_p.R69Q|EPHA7_uc011eac.1_Missense_Mutation_p.R69Q|EPHA7_uc003pog.3_Missense_Mutation_p.R69Q	1	GBM-02-0003-TP	p.R69Q	C	CTGGTATGTTCGTATCGGGGT	NM_004440	NP_004431	94120845	Q15375	EPHA7_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.0847)	3	447	-	T	T		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	Missense_Mutation	69			Extracellular (Potential).			
EPHA7	0	broad.mit.edu	GRCh37	6	94120318	94120318	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs41273629	byFrequency	TCGA-14-1456-01	TCGA-14-1456-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369303.4:c.733G>A	p.Ala245Thr	p.A245T	ENST00000369303	NM_004440.3	245	Gcc/Acc	0	T:0.0005	T:0.0008	1	T:0.0014		T	A/T	uc003poe.2	protein_coding	YES	CCDS5031.1			733/2997									lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28	c.(733-735)GCC>ACC			hmmpanther:PTHR24416:SF266,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000666	ephrin receptor EphA7 precursor		T:0	T:0.0012	ENSP00000358309	T:0	17-Mar	0.0016	0.000769	0.00139			0.00174		0.00327	rs41273629,COSM2155610	17-Mar	common_variant		ENST00000369303	Transcript		T:0.0012		integral to plasma membrane	ATP binding|ephrin receptor activity	ENSG00000135333	g.chr6:94120318C>T	3390			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=EPHA7_HUMAN&rb=206&re=267&var=A245T	getma.org/pdb.php?prot=EPHA7_HUMAN&from=206&to=267&var=A245T	getma.org/?cm=var&var=hg19,6,94120318,C,T&fts=all	A245T	--	--	1																																		EPHA7_uc003pof.2_Missense_Mutation_p.A245T|EPHA7_uc011eac.1_Missense_Mutation_p.A245T|EPHA7_uc003pog.3_Missense_Mutation_p.A245T	0,1	1		benign(0.016)	p.A245T	NM_004440	NP_004431	T:0.0041	tolerated(0.72)	0,1	EPHA7_HUMAN	EPHA7	HGNC	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)			3	974	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	UPI0000044771	245			Extracellular (Potential).|Cys-rich.		SNV	EPHA7,missense_variant,p.Ala245Thr,ENST00000369303,NM_004440.3,NM_001288629.1;EPHA7,missense_variant,p.Ala245Thr,ENST00000369297,NM_001288630.1;	uc003poe.2	c.733G>A	918/6588	2	2			c.733G>A						6	SNP	c.(733-735)GCC>ACC	17	17			lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28	Broad	ephrin receptor EphA7 precursor			94120318		0.483	ENSG00000135333	5087	g.chr6:94120318C>T		integral to plasma membrane	ATP binding|ephrin receptor activity		p.A245T(EOL1CELL-Tumor)|p.A245T(EOL1-Tumor)	635		p.A245T(EOL1CELL-Tumor)|p.A245T(EOL1-Tumor)	635	229.320712	KEEP	37	49	-1	50	57	37	49	-1	229.863889	50	57	0.440678	1	0	0	0	0	1	0	0	0	--	--		0	T			EPHA7_uc003pof.2_Missense_Mutation_p.A245T|EPHA7_uc011eac.1_Missense_Mutation_p.A245T|EPHA7_uc003pog.3_Missense_Mutation_p.A245T	146	GBM-14-1456-TP	p.A245T	C	ATCCTGGGGGCGTTTTCCGCT	NM_004440	NP_004431	94120318	Q15375	EPHA7_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.0847)	3	974	-	T	T		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	Missense_Mutation	245			Extracellular (Potential).|Cys-rich.			
EPHA7	0	broad.mit.edu	GRCh37	6	93956625	93956625	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-2620-01	TCGA-19-2620-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369303.4:c.2611G>C	p.Asp871His	p.D871H	ENST00000369303	NM_004440.3	871	Gat/Cat	0			1			G	D/H	uc003poe.2	protein_coding	YES	CCDS5031.1			2611/2997									lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28	c.(2611-2613)GAT>CAT			PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF266,hmmpanther:PTHR24416,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00219,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF56112,Prints_domain:PR00109	ephrin receptor EphA7 precursor				ENSP00000358309		15/17									COSM3411342	15/17	.		ENST00000369303	Transcript				integral to plasma membrane	ATP binding|ephrin receptor activity	ENSG00000135333	g.chr6:93956625C>G	3390			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=EPHA7_HUMAN&rb=633&re=890&var=D871H	getma.org/pdb.php?prot=EPHA7_HUMAN&from=633&to=890&var=D871H	getma.org/?cm=var&var=hg19,6,93956625,C,G&fts=all	D871H	--	--	1																																		EPHA7_uc003pof.2_Missense_Mutation_p.D866H|EPHA7_uc011eac.1_Missense_Mutation_p.D867H	1	1		possibly_damaging(0.889)	p.D871H	NM_004440	NP_004431		tolerated(0.13)	1	EPHA7_HUMAN	EPHA7	HGNC	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)			15	2852	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	UPI0000044771	871			Cytoplasmic (Potential).|Protein kinase.		SNV	EPHA7,missense_variant,p.Asp871His,ENST00000369303,NM_004440.3,NM_001288629.1;	uc003poe.2	c.2611G>C	2796/6588	3	3			c.2611G>C						6	SNP	c.(2611-2613)GAT>CAT	64	64			lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28	Broad	ephrin receptor EphA7 precursor			93956625		0.418	ENSG00000135333	5087	g.chr6:93956625C>G		integral to plasma membrane	ATP binding|ephrin receptor activity			635			635	96.920561	KEEP	20	11	-1	49	27	20	11	-1	100.783222	49	27	0.294118	1	0	0	0	0	1	0	0	0	--	--		0	G			EPHA7_uc003pof.2_Missense_Mutation_p.D866H|EPHA7_uc011eac.1_Missense_Mutation_p.D867H	162	GBM-19-2620-TP	p.D871H	C	TGCCAACAATCCAACATTAGC	NM_004440	NP_004431	93956625	Q15375	EPHA7_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.0847)	15	2852	-	G	G		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	Missense_Mutation	871			Cytoplasmic (Potential).|Protein kinase.			
EPHA8	0	broad.mit.edu	GRCh37	1	22903296	22903296	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01	TCGA-19-5950-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000166244.3:c.746C>T	p.Ala249Val	p.A249V	ENST00000166244	NM_020526.3	249	gCg/gTg	0			1			T	A/V	uc001bfx.1	protein_coding	YES	CCDS225.1			746/3018									central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13	c.(745-747)GCG>GTG			PIRSF_domain:PIRSF000666,PROSITE_patterns:PS00791,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF274	ephrin receptor EphA8 isoform 1 precursor				ENSP00000166244		17-Mar	8.24E-06							6.13E-05	rs768374859,COSM2156533,COSM2156534	17-Mar	.		ENST00000166244	Transcript				integral to plasma membrane	ATP binding|ephrin receptor activity	ENSG00000070886	g.chr1:22903296C>T	3391			MODERATE		2.205	medium	getma.org/?cm=msa&ty=f&p=EPHA8_HUMAN&rb=205&re=329&var=A249V	getma.org/pdb.php?prot=EPHA8_HUMAN&from=205&to=329&var=A249V	getma.org/?cm=var&var=hg19,1,22903296,C,T&fts=all	A249V	--	--	1																																		EPHA8_uc001bfw.2_Missense_Mutation_p.A249V	0,1,1	1		possibly_damaging(0.486)	p.A249V	NM_020526	NP_065387		tolerated(0.09)	0,1,1	EPHA8_HUMAN	EPHA8	HGNC	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)			3	871	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	UPI000012A07B	249			Extracellular (Potential).|Cys-rich.		SNV	EPHA8,missense_variant,p.Ala249Val,ENST00000166244,NM_020526.3;EPHA8,missense_variant,p.Ala249Val,ENST00000374644,NM_001006943.1;EPHA8,missense_variant,p.Ala249Val,ENST00000538803,;	uc001bfx.1	c.746C>T	818/4943	1	1			c.746C>T						1	SNP	c.(745-747)GCG>GTG	1	1			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13	Broad	ephrin receptor EphA8 isoform 1 precursor			22903296		0.687	ENSG00000070886	5088	g.chr1:22903296C>T		integral to plasma membrane	ATP binding|ephrin receptor activity			520			520	20.691825	KEEP	5	5	-1	13	20	5	5	-1	22.163789	13	20	0.266667	1	0	0	0	0	1	0	0	0	--	--		0	T			EPHA8_uc001bfw.2_Missense_Mutation_p.A249V	170	GBM-19-5950-TP	p.A249V	C	TACTGCAGCGCGGAGGGCGAG	NM_020526	NP_065387	22903296	P29322	EPHA8_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	3	871	+	T	T		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	249			Extracellular (Potential).|Cys-rich.			
EPHA8	0	broad.mit.edu	GRCh37	1	22927229	22927229	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-27-1838-01	TCGA-27-1838-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000166244.3:c.2464T>C	p.Trp822Arg	p.W822R	ENST00000166244	NM_020526.3	822	Tgg/Cgg	0			1			C	W/R	uc001bfx.1	protein_coding	YES	CCDS225.1			2464/3018									central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13	c.(2464-2466)TGG>CGG			Prints_domain:PR00109,Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000666,SMART_domains:SM00219,Pfam_domain:PF07714,Gene3D:1.10.510.10,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF274,PROSITE_profiles:PS50011	ephrin receptor EphA8 isoform 1 precursor				ENSP00000166244		14/17									COSM3400448	14/17	.		ENST00000166244	Transcript				integral to plasma membrane	ATP binding|ephrin receptor activity	ENSG00000070886	g.chr1:22927229T>C	3391			MODERATE		3.955	high	getma.org/?cm=msa&ty=f&p=EPHA8_HUMAN&rb=635&re=892&var=W822R	getma.org/pdb.php?prot=EPHA8_HUMAN&from=635&to=892&var=W822R	getma.org/?cm=var&var=hg19,1,22927229,T,C&fts=all	W822R	--	--	1																																			1	1		probably_damaging(1)	p.W822R	NM_020526	NP_065387		deleterious(0)	1	EPHA8_HUMAN	EPHA8	HGNC	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)			14	2589	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	UPI000012A07B	822			Cytoplasmic (Potential).|Protein kinase.		SNV	EPHA8,missense_variant,p.Trp822Arg,ENST00000166244,NM_020526.3;	uc001bfx.1	c.2464T>C	2536/4943	3	3			c.2464T>C						1	SNP	c.(2464-2466)TGG>CGG	7	7			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13	Broad	ephrin receptor EphA8 isoform 1 precursor			22927229		0.657	ENSG00000070886	5088	g.chr1:22927229T>C		integral to plasma membrane	ATP binding|ephrin receptor activity			520			520	1.833579	KEEP	5	6	-1	75	81	5	6	-1	26.694871	75	81	0.07971	1	0	0	0	0	1	0	0	0	--	--		0	C				197	GBM-27-1838-TP	p.W822R	T	CAGCGACGTGTGGAGCTTCGG	NM_020526	NP_065387	22927229	P29322	EPHA8_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	14	2589	+	C	C		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	822			Cytoplasmic (Potential).|Protein kinase.			
EPHA8	2046		GRCh37	1	22927421	22927421	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000166244.3:c.2569C>T	p.Leu857=	p.L857=	ENST00000166244	NM_020526.3	857	Ctg/Ttg	0																																																																																																																																																																																																																																												
EPHB1	2047	broad.mit.edu	GRCh37	3	134967277	134967277	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2562-01	TCGA-06-2562-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398015.3:c.2616G>A	p.Ala872=	p.A872=	ENST00000398015	NM_004441.4	872	gcG/gcA	0			1			A	A	uc003eqt.2	protein_coding	YES	CCDS46921.1			2616/2955									lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30	c.(2614-2616)GCG>GCA			PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF173,Pfam_domain:PF07714,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000666,SMART_domains:SM00219,Superfamily_domains:SSF56112	ephrin receptor EphB1 precursor				ENSP00000381097		14/16	1.65E-05					1.52E-05		6.11E-05	rs760099232,COSM1419317,COSM1419316	14/16	.		ENST00000398015	Transcript				integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	ENSG00000154928	g.chr3:134967277G>A	3392			LOW								--	--	1																																		EPHB1_uc003equ.2_Silent_p.A433A	0,1,1	1			p.A872A	NM_004441	NP_004432			0,1,1	EPHB1_HUMAN	EPHB1	HGNC	P54762	EPHB1_HUMAN			C9K090_HUMAN,C9JB88_HUMAN,C9J6S4_HUMAN,C9J466_HUMAN,B3KTB2_HUMAN		14	2836	+			UPI000012A07E	872			Cytoplasmic (Potential).|Protein kinase.		SNV	EPHB1,synonymous_variant,p.=,ENST00000398015,NM_004441.4;EPHB1,synonymous_variant,p.=,ENST00000493838,;	uc003eqt.2	c.2616G>A	2986/4672	2	2			c.2616G>A						3	SNP	c.(2614-2616)GCG>GCA	22	22			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30	Broad	ephrin receptor EphB1 precursor			134967277		0.582	ENSG00000154928	5089	g.chr3:134967277G>A		integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			376			376	72.141037	KEEP	10	18	-1	29	29	10	18	-1	73.461893	29	29	0.348485	1	0	0	0	0	0	0	1	0	--	--		0	A			EPHB1_uc003equ.2_Silent_p.A433A	85	GBM-06-2562-TP	p.A872A	G	CCCGGTTTGCGGAGATTGTCA	NM_004441	NP_004432	134967277	P54762	EPHB1_HUMAN	0			14	2836	+	A	A			Silent	872			Cytoplasmic (Potential).|Protein kinase.			
EPHB1	0	broad.mit.edu	GRCh37	3	134898744	134898744	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-5214-01	TCGA-28-5214-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398015.3:c.1802A>G	p.Glu601Gly	p.E601G	ENST00000398015	NM_004441.4	601	gAg/gGg	0			1			G	E/G	uc003eqt.2	protein_coding	YES	CCDS46921.1			1802/2955									lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30	c.(1801-1803)GAG>GGG			hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF173,Gene3D:3.30.200.20,Pfam_domain:PF14575,PIRSF_domain:PIRSF000666	ephrin receptor EphB1 precursor				ENSP00000381097		16-Oct									COSM3408255,COSM3408254	16-Oct	.		ENST00000398015	Transcript				integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	ENSG00000154928	g.chr3:134898744A>G	3392			MODERATE		2.955	medium	getma.org/?cm=msa&ty=f&p=EPHB1_HUMAN&rb=519&re=618&var=E601G	getma.org/pdb.php?prot=EPHB1_HUMAN&from=519&to=618&var=E601G	getma.org/?cm=var&var=hg19,3,134898744,A,G&fts=all	E601G	--	--	1																																		EPHB1_uc003equ.2_Missense_Mutation_p.E162G	1,1	1		probably_damaging(1)	p.E601G	NM_004441	NP_004432		deleterious(0)	1,1	EPHB1_HUMAN	EPHB1	HGNC	P54762	EPHB1_HUMAN			C9K090_HUMAN,C9JB88_HUMAN,C9J6S4_HUMAN,C9J466_HUMAN,B3KTB2_HUMAN		10	2022	+			UPI000012A07E	601			Cytoplasmic (Potential).		SNV	EPHB1,missense_variant,p.Glu601Gly,ENST00000398015,NM_004441.4;EPHB1,missense_variant,p.Glu162Gly,ENST00000493838,;	uc003eqt.2	c.1802A>G	2172/4672	3	3			c.1802A>G						3	SNP	c.(1801-1803)GAG>GGG	56	56			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30	Broad	ephrin receptor EphB1 precursor			134898744		0.483	ENSG00000154928	5089	g.chr3:134898744A>G		integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			376			376	-76.901155	KEEP	3	3	-1	153	194	3	3	-1	8.895817	153	194	0.012658	1	0	0	0	0	1	0	0	0	--	--		0	G			EPHB1_uc003equ.2_Missense_Mutation_p.E162G	221	GBM-28-5214-TP	p.E601G	A	TTCACTTACGAGGATCCCAAC	NM_004441	NP_004432	134898744	P54762	EPHB1_HUMAN	0			10	2022	+	G	G			Missense_Mutation	601			Cytoplasmic (Potential).			
EPHB1	2047		GRCh37	3	134851749	134851749	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000398015.3:c.1155C>A	p.Gly385=	p.G385=	ENST00000398015	NM_004441.4	385	ggC/ggA	0																																																																																																																																																																																																																																												
EPHB2	2048		GRCh37	1	23208926	23208926	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000374632.3:c.1378G>A	p.Asp460Asn	p.D460N	ENST00000374632		460	Gac/Aac	0																																																																																																																																																																																																																																												
EPHB3	2049	broad.mit.edu	GRCh37	3	184298249	184298249	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330394.2:c.2232C>T	p.Ala744=	p.A744=	ENST00000330394	NM_004443.3	744	gcC/gcT	0			1			T	A	uc003foz.2	protein_coding	YES	CCDS3268.1			2232/2997									lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	c.(2230-2232)GCC>GCT			Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000666,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF120,SMART_domains:SM00219,Superfamily_domains:SSF56112	ephrin receptor EphB3 precursor				ENSP00000332118		16-Dec	3.29E-05					4.50E-05		6.06E-05	rs771080330,COSM3408483	16-Dec	.		ENST00000330394	Transcript				integral to plasma membrane	ATP binding|ephrin receptor activity	ENSG00000182580	g.chr3:184298249C>T	3394			LOW								--	--	1																																			0,1	1			p.A744A	NM_004443	NP_004434			0,1	EPHB3_HUMAN	EPHB3	HGNC	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		D3DNT9_HUMAN		12	2669	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		UPI0000161C94	744			Cytoplasmic (Potential).|Protein kinase.		SNV	EPHB3,synonymous_variant,p.=,ENST00000330394,NM_004443.3;EIF2B5,intron_variant,,ENST00000444495,;EPHB3,non_coding_transcript_exon_variant,,ENST00000473079,;EPHB3,downstream_gene_variant,,ENST00000482987,;	uc003foz.2	c.2232C>T	2684/4236	1	1			c.2232C>T						3	SNP	c.(2230-2232)GCC>GCT	12	12			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	Broad	ephrin receptor EphB3 precursor			184298249		0.572	ENSG00000182580	5091	g.chr3:184298249C>T		integral to plasma membrane	ATP binding|ephrin receptor activity			292			292	-18.40449	KEEP	1	5	-1	58	83	1	5	-1	10.077224	58	83	0.04	1	0	0	0	0	0	0	1	0	--	--		0	T				102	GBM-06-5858-TP	p.A744A	C	GCATTGCTGCCGGCATGAAGT	NM_004443	NP_004434	184298249	P54753	EPHB3_HUMAN	0	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		12	2669	+	T	T	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Silent	744			Cytoplasmic (Potential).|Protein kinase.			
EPHB3	2049		GRCh37	3	184295702	184295702	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000330394.2:c.1656G>A	p.Gln552=	p.Q552=	ENST00000330394	NM_004443.3	552	caG/caA	0																																																																																																																																																																																																																																												
EPHB4	0	broad.mit.edu	GRCh37	7	100411279	100411279	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0781-01	TCGA-14-0781-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358173.3:c.1751G>A	p.Gly584Glu	p.G584E	ENST00000358173	NM_004444.4	584	gGa/gAa	0			1			T	G/E	uc003uwn.1	protein_coding	YES	CCDS5706.1			1751/2964									lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	c.(1750-1752)GGA>GAA			hmmpanther:PTHR24416:SF296,hmmpanther:PTHR24416,Gene3D:3.30.200.20,Pfam_domain:PF14575,PIRSF_domain:PIRSF000666	EPH receptor B4 precursor				ENSP00000350896		17-Oct									COSM3411385	17-Oct	.		ENST00000358173	Transcript			cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	ENSG00000196411	g.chr7:100411279C>T	3395			MODERATE		2.2	medium	getma.org/?cm=msa&ty=f&p=EPHB4_HUMAN&rb=520&re=614&var=G584E	NA	getma.org/?cm=var&var=hg19,7,100411279,C,T&fts=all	G584E	--	--	1																																		EPHB4_uc003uwm.1_Missense_Mutation_p.G491E|EPHB4_uc010lhj.1_Missense_Mutation_p.G584E	1	1		probably_damaging(0.953)	p.G584E	NM_004444	NP_004435		tolerated(0.12)	1	EPHB4_HUMAN	EPHB4	HGNC	P54760	EPHB4_HUMAN			Q541P7_HUMAN		10	2242	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		UPI0000000DBB	584			Cytoplasmic (Potential).		SNV	EPHB4,missense_variant,p.Gly584Glu,ENST00000358173,NM_004444.4;EPHB4,missense_variant,p.Gly584Glu,ENST00000360620,;EPHB4,downstream_gene_variant,,ENST00000477446,;EPHB4,downstream_gene_variant,,ENST00000489808,;EPHB4,non_coding_transcript_exon_variant,,ENST00000487222,;EPHB4,non_coding_transcript_exon_variant,,ENST00000478459,;EPHB4,downstream_gene_variant,,ENST00000492878,;EPHB4,upstream_gene_variant,,ENST00000467515,;	uc003uwn.1	c.1751G>A	2220/4329	1	1			c.1751G>A						7	SNP	c.(1750-1752)GGA>GAA	8	8			lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	Broad	EPH receptor B4 precursor			100411279		0.343	ENSG00000196411	5092	g.chr7:100411279C>T	cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	GBM(200;2113 3072 25865 52728)		223	GBM(200;2113 3072 25865 52728)		223	21.218326	KEEP	35	42	-1	341	465	35	42	-1	152.516802	341	465	0.085106	1	0	0	0	0	1	0	0	0	--	--		0	T			EPHB4_uc003uwm.1_Missense_Mutation_p.G491E|EPHB4_uc010lhj.1_Missense_Mutation_p.G584E	133	GBM-14-0781-TP	p.G584E	C	CCCACCATGTCCGATGAGATA	NM_004444	NP_004435	100411279	P54760	EPHB4_HUMAN	0			10	2242	-	T	T	Lung NSC(181;0.041)|all_lung(186;0.0581)		Missense_Mutation	584			Cytoplasmic (Potential).			
EPHB4	0	broad.mit.edu	GRCh37	7	100404060	100404060	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-26-1439-01	TCGA-26-1439-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358173.3:c.2466G>A	p.Trp822Ter	p.W822*	ENST00000358173	NM_004444.4	822	tgG/tgA	0			1			T	W/*	uc003uwn.1	protein_coding	YES	CCDS5706.1			2466/2964									lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	c.(2464-2466)TGG>TGA			PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF296,hmmpanther:PTHR24416,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF56112,Prints_domain:PR00109	EPH receptor B4 precursor				ENSP00000350896		14/17									COSM2156889	14/17	.		ENST00000358173	Transcript			cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	ENSG00000196411	g.chr7:100404060C>T	3395			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,100404060,C,T&fts=all	W822*	--	--	1																																		EPHB4_uc003uwm.1_Nonsense_Mutation_p.W729*|EPHB4_uc010lhj.1_Nonsense_Mutation_p.W822*	1	1			p.W822*	NM_004444	NP_004435			1	EPHB4_HUMAN	EPHB4	HGNC	P54760	EPHB4_HUMAN			Q541P7_HUMAN		14	2957	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		UPI0000000DBB	822			Cytoplasmic (Potential).|Protein kinase.		SNV	EPHB4,stop_gained,p.Trp822Ter,ENST00000358173,NM_004444.4;EPHB4,stop_gained,p.Trp822Ter,ENST00000360620,;EPHB4,non_coding_transcript_exon_variant,,ENST00000487222,;EPHB4,non_coding_transcript_exon_variant,,ENST00000478459,;EPHB4,non_coding_transcript_exon_variant,,ENST00000492403,;EPHB4,downstream_gene_variant,,ENST00000467515,;	uc003uwn.1	c.2466G>A	2935/4329	5	2			c.2466G>A						7	SNP	c.(2464-2466)TGG>TGA	35	35			lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	Broad	EPH receptor B4 precursor			100404060		0.562	ENSG00000196411	5092	g.chr7:100404060C>T	cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	GBM(200;2113 3072 25865 52728)		223	GBM(200;2113 3072 25865 52728)		223	145.941703	KEEP	34	29	-1	72	77	34	29	-1	154.486133	72	77	0.274194	1	0	0	0	0	0	1	0	0	--	--		0	T			EPHB4_uc003uwm.1_Nonsense_Mutation_p.W729*|EPHB4_uc010lhj.1_Nonsense_Mutation_p.W822*	179	GBM-26-1439-TP	p.W822*	C	TGCTCATGTCCCAGTACGGCC	NM_004444	NP_004435	100404060	P54760	EPHB4_HUMAN	0			14	2957	-	T	T	Lung NSC(181;0.041)|all_lung(186;0.0581)		Nonsense_Mutation	822			Cytoplasmic (Potential).|Protein kinase.			
EPHB6	2051	broad.mit.edu	GRCh37	7	142562429	142562430	+	missense_variant	Missense_Mutation	DNP	AA	AA	CC			TCGA-06-0168-01	TCGA-06-0168-01	AA	AA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392957.2:c.871_872delinsCC	p.Lys291Pro	p.K291P	ENST00000392957	NM_004445.4	291	AAg/CCg	0			1			CC	K/P	uc011kst.1	protein_coding	YES	CCDS5873.2			871-872/3066									lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	c.(871-873)AAG>CCG			PIRSF_domain:PIRSF000666,PROSITE_patterns:PS00791,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF300	ephrin receptor EphB6 precursor				ENSP00000376684		20-Jul										20-Jul	.		ENST00000392957	Transcript				extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	ENSG00000106123	g.chr7:142562429_142562430AA>CC	3396			MODERATE								--	--	1																																		EPHB6_uc011ksu.1_Missense_Mutation_p.K291P|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_5'UTR|EPHB6_uc003wbv.2_5'Flank		1		benign(0.199)	p.K291P	NM_004445	NP_004436		deleterious(0)		EPHB6_HUMAN	EPHB6	HGNC	O15197	EPHB6_HUMAN					7	1658_1659	+	Melanoma(164;0.059)		UPI00006635A8	291			Extracellular (Potential).|Cys-rich.		substitution	EPHB6,missense_variant,p.Lys291Pro,ENST00000392957,NM_004445.4,NM_001280794.1;EPHB6,missense_variant,p.Lys291Pro,ENST00000442129,;EPHB6,intron_variant,,ENST00000411471,NM_001280795.1;EPHB6,downstream_gene_variant,,ENST00000497095,;EPHB6,3_prime_UTR_variant,,ENST00000425995,;EPHB6,3_prime_UTR_variant,,ENST00000422643,;EPHB6,non_coding_transcript_exon_variant,,ENST00000466783,;EPHB6,upstream_gene_variant,,ENST00000486511,;	uc011kst.1	c.871_872AA>CC	1658-1659/4043	4	4			c.871_872AA>CC						7	DNP	c.(871-873)AAG>CCG	45	45			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Broad	ephrin receptor EphB6 precursor			142562430		0.653	ENSG00000106123	5093	g.chr7:142562429_142562430AA>CC		extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			313			313	-11.171775	KEEP	0	0	-1	0	0	0	0	-1	6.861082	0	0	0.048193	1	0	0	0	0	1	0	0	0	--	--		0	CC			EPHB6_uc011ksu.1_Missense_Mutation_p.K291P|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_5'UTR|EPHB6_uc003wbv.2_5'Flank	33	GBM-06-0168-TP	p.K291P	AA	CGGGGAGGGCAAGTGGATGGTA	NM_004445	NP_004436	142562429	O15197	EPHB6_HUMAN	0			7	1658_1659	+	CC	CC	Melanoma(164;0.059)		Missense_Mutation	291			Extracellular (Potential).|Cys-rich.			
EPHB6	0	broad.mit.edu	GRCh37	7	142561895	142561895	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-6450-01	TCGA-28-6450-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392957.2:c.337G>A	p.Ala113Thr	p.A113T	ENST00000392957	NM_004445.4	113	Gca/Aca	0			1			A	A/T	uc011kst.1	protein_coding	YES	CCDS5873.2			337/3066									lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	c.(337-339)GCA>ACA			Gene3D:2.60.120.260,Pfam_domain:PF01404,PIRSF_domain:PIRSF000666,PROSITE_profiles:PS51550,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF300,SMART_domains:SM00615,Superfamily_domains:SSF49785	ephrin receptor EphB6 precursor				ENSP00000376684		20-Jul									COSM3411691	20-Jul	.		ENST00000392957	Transcript				extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	ENSG00000106123	g.chr7:142561895G>A	3396			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=EPHB6_HUMAN&rb=33&re=232&var=A113T	getma.org/pdb.php?prot=EPHB6_HUMAN&from=33&to=232&var=A113T	getma.org/?cm=var&var=hg19,7,142561895,G,A&fts=all	A113T	--	--	1																																		EPHB6_uc011ksu.1_Missense_Mutation_p.A113T|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_5'UTR	1	1		probably_damaging(0.911)	p.A113T	NM_004445	NP_004436		deleterious(0)	1	EPHB6_HUMAN	EPHB6	HGNC	O15197	EPHB6_HUMAN					7	1124	+	Melanoma(164;0.059)		UPI00006635A8	113			Extracellular (Potential).		SNV	EPHB6,missense_variant,p.Ala113Thr,ENST00000392957,NM_004445.4,NM_001280794.1;EPHB6,missense_variant,p.Ala113Thr,ENST00000442129,;EPHB6,intron_variant,,ENST00000411471,NM_001280795.1;EPHB6,downstream_gene_variant,,ENST00000497095,;EPHB6,missense_variant,p.Ala113Thr,ENST00000422643,;EPHB6,3_prime_UTR_variant,,ENST00000425995,;EPHB6,non_coding_transcript_exon_variant,,ENST00000466783,;EPHB6,upstream_gene_variant,,ENST00000486511,;	uc011kst.1	c.337G>A	1124/4043	2	2			c.337G>A						7	SNP	c.(337-339)GCA>ACA	25	25			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Broad	ephrin receptor EphB6 precursor			142561895		0.657	ENSG00000106123	5093	g.chr7:142561895G>A		extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			313			313	-36.101606	KEEP	1	3	-1	89	98	1	3	-1	7.079841	89	98	0.023392	1	0	0	0	0	1	0	0	0	--	--		0	A			EPHB6_uc011ksu.1_Missense_Mutation_p.A113T|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_5'UTR	227	GBM-28-6450-TP	p.A113T	G	CTCTGTGCGGGCATGCTCCAG	NM_004445	NP_004436	142561895	O15197	EPHB6_HUMAN	0			7	1124	+	A	A	Melanoma(164;0.059)		Missense_Mutation	113			Extracellular (Potential).			
EPHB6	2051		GRCh37	7	142561409	142561409	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000392957.2:c.121G>A	p.Gly41Arg	p.G41R	ENST00000392957	NM_004445.4	41	Gga/Aga	0																																																																																																																																																																																																																																												
EPHX1	2052	broad.mit.edu	GRCh37	1	226027611	226027611	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5415-01	TCGA-06-5415-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366837.4:c.804C>T	p.Phe268=	p.F268=	ENST00000366837	NM_000120.3	268	ttC/ttT	0	T:0		1			T	F	uc001hpk.2	protein_coding		CCDS1547.1			804/1368									ovary(3)|lung(1)	4	c.(802-804)TTC>TTT			Gene3D:3.40.50.1820,Pfam_domain:PF00561,PIRSF_domain:PIRSF001112,hmmpanther:PTHR21661,hmmpanther:PTHR21661:SF10,Low_complexity_(Seg):seg,Superfamily_domains:SSF53474	epoxide hydrolase 1			T:0.0001	ENSP00000272167		9-Jun	2.47E-05					4.50E-05			rs369274884,COSM3400365	9-Jun	.		ENST00000272167	Transcript	1		aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	ENSG00000143819	g.chr1:226027611C>T	3401			LOW								--	--	1																																		EPHX1_uc001hpl.2_Silent_p.F268F	0,1				p.F268F	NM_001136018	NP_001129490			0,1	HYEP_HUMAN	EPHX1	HGNC	P07099	HYEP_HUMAN			R4SBI6_HUMAN,B1AQP9_HUMAN,B1AQP8_HUMAN		6	884	+	Breast(184;0.197)		UPI000012CFF2	268					SNV	EPHX1,synonymous_variant,p.=,ENST00000366837,NM_000120.3;EPHX1,synonymous_variant,p.=,ENST00000272167,NM_001136018.2;EPHX1,downstream_gene_variant,,ENST00000448202,;EPHX1,downstream_gene_variant,,ENST00000445856,;RP11-285F7.2,downstream_gene_variant,,ENST00000424332,;	uc001hpk.2	c.804C>T	884/1660	1	1			c.804C>T						1	SNP	c.(802-804)TTC>TTT	3	3			ovary(3)|lung(1)	4	Broad	epoxide hydrolase 1			226027611		0.552	ENSG00000143819	5094	g.chr1:226027611C>T	aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity							-26.826965	KEEP	9	7	-1	105	163	9	7	-1	26.238023	105	163	0.052	1	0	0	0	0	0	0	1	0	--	--		0	T			EPHX1_uc001hpl.2_Silent_p.F268F	98	GBM-06-5415-TP	p.F268F	C	GACAGCGTTTCGGGAGGTTTC	NM_001136018	NP_001129490	226027611	P07099	HYEP_HUMAN	0			6	884	+	T	T	Breast(184;0.197)		Silent	268						
EPHX1	2052		GRCh37	1	226027691	226027691	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000366837.4:c.884G>A	p.Arg295Lys	p.R295K	ENST00000366837	NM_000120.3	295	aGg/aAg	0																																																																																																																																																																																																																																												
EPHX2	0	broad.mit.edu	GRCh37	8	27362585	27362585	+	synonymous_variant	Silent	SNP	G	G	A	rs146337543		TCGA-32-4213-01	TCGA-32-4213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521400.1:c.459G>A	p.Ser153=	p.S153=	ENST00000521400	NM_001979.5	153	tcG/tcA	0	A:0.0002	T:0.0008	1	T:0		A	S	uc003xfu.2	protein_coding	YES	CCDS6060.1			459/1668									ovary(1)	1	c.(457-459)TCG>TCA			TIGRFAM_domain:TIGR02247,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR01509,Pfam_domain:PF13419,Superfamily_domains:SSF56784	epoxide hydrolase 2, cytoplasmic	Tamoxifen(DB00675)	T:0	A:0	ENSP00000430269	T:0	19-Apr	2.47E-05	9.62E-05				1.50E-05		6.11E-05	rs146337543,COSM3412962	19-Apr	.		ENST00000521400	Transcript		T:0.0002	aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity	ENSG00000120915	g.chr8:27362585G>A	3402			LOW								--	--	1																																		EPHX2_uc010lut.1_Silent_p.S153S|EPHX2_uc010luu.2_Silent_p.S153S|EPHX2_uc010luv.2_Silent_p.S87S|EPHX2_uc003xfv.2_Silent_p.S100S|EPHX2_uc010luw.2_Silent_p.S87S|EPHX2_uc011lam.1_Silent_p.S9S	0,1	1			p.S153S	NM_001979	NP_001970	T:0		0,1	HYES_HUMAN	EPHX2	HGNC	P34913	HYES_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	E5RI53_HUMAN		4	540	+		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)	UPI0000073FE5	153			Phosphatase.		SNV	EPHX2,synonymous_variant,p.=,ENST00000521400,NM_001979.5;EPHX2,synonymous_variant,p.=,ENST00000380476,NM_001256484.1,NM_001256482.1;EPHX2,synonymous_variant,p.=,ENST00000521780,NM_001256483.1;EPHX2,synonymous_variant,p.=,ENST00000518379,;EPHX2,synonymous_variant,p.=,ENST00000521684,;EPHX2,synonymous_variant,p.=,ENST00000518328,;EPHX2,intron_variant,,ENST00000517536,;EPHX2,non_coding_transcript_exon_variant,,ENST00000520666,;EPHX2,downstream_gene_variant,,ENST00000523827,;EPHX2,non_coding_transcript_exon_variant,,ENST00000520623,;EPHX2,non_coding_transcript_exon_variant,,ENST00000521924,;	uc003xfu.2	c.459G>A	889/3140	2	2			c.459G>A						8	SNP	c.(457-459)TCG>TCA	44	44			ovary(1)	1	Broad	epoxide hydrolase 2, cytoplasmic		Tamoxifen(DB00675)	27362585		0.547	ENSG00000120915	5095	g.chr8:27362585G>A	aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity							63.458107	KEEP	11	18	-1	26	36	11	18	-1	66.324211	26	36	0.3	1	0	0	0	0	0	0	1	0	--	--		0	A			EPHX2_uc010lut.1_Silent_p.S153S|EPHX2_uc010luu.2_Silent_p.S153S|EPHX2_uc010luv.2_Silent_p.S87S|EPHX2_uc003xfv.2_Silent_p.S100S|EPHX2_uc010luw.2_Silent_p.S87S|EPHX2_uc011lam.1_Silent_p.S9S	247	GBM-32-4213-TP	p.S153S	G	TGATAGAGTCGTGTCAGGTGG	NM_001979	NP_001970	27362585	P34913	HYES_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	4	540	+	A	A		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)	Silent	153			Phosphatase.			
EPHX4	0	broad.mit.edu	GRCh37	1	92528664	92528664	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5214-01	TCGA-28-5214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370383.4:c.910G>A	p.Gly304Arg	p.G304R	ENST00000370383	NM_173567.4	304	Gga/Aga	0			1			A	G/R	uc001don.2	protein_coding	YES	CCDS736.1			910/1089									central_nervous_system(1)	1	c.(910-912)GGA>AGA			Prints_domain:PR00412,Superfamily_domains:SSF53474,Pfam_domain:PF12697,Gene3D:3.40.50.1820,hmmpanther:PTHR10992:SF278,hmmpanther:PTHR10992	abhydrolase domain containing 7				ENSP00000359410		7-Jul									COSM3401088	7-Jul	.		ENST00000370383	Transcript				integral to membrane	hydrolase activity	ENSG00000172031	g.chr1:92528664G>A	23758			MODERATE		4.055	high	getma.org/?cm=msa&ty=f&p=EPHX4_HUMAN&rb=96&re=349&var=G304R	getma.org/pdb.php?prot=EPHX4_HUMAN&from=96&to=349&var=G304R	getma.org/?cm=var&var=hg19,1,92528664,G,A&fts=all	G304R	--	--	1																																			1	1		probably_damaging(1)	p.G304R	NM_173567	NP_775838		deleterious(0)	1	EPHX4_HUMAN	EPHX4	HGNC	Q8IUS5	EPHX4_HUMAN					7	1014	+			UPI000013E9F5	304					SNV	EPHX4,missense_variant,p.Gly304Arg,ENST00000370383,NM_173567.4;LPCAT2BP,upstream_gene_variant,,ENST00000420263,;	uc001don.2	c.910G>A	1008/1437	1	1			c.910G>A						1	SNP	c.(910-912)GGA>AGA	58	58			central_nervous_system(1)	1	Broad	abhydrolase domain containing 7			92528664		0.398	ENSG00000172031	5097	g.chr1:92528664G>A		integral to membrane	hydrolase activity	GBM(140;473 1857 5172 22066 49719)			GBM(140;473 1857 5172 22066 49719)			304.959243	KEEP	58	57	-1	112	134	58	57	-1	313.96417	112	134	0.320635	1	0	0	0	0	1	0	0	0	--	--		0	A				221	GBM-28-5214-TP	p.G304R	G	ACTACTGTGGGGAGAGAATGA	NM_173567	NP_775838	92528664	Q8IUS5	EPHX4_HUMAN	0			7	1014	+	A	A			Missense_Mutation	304						
EPHX4	0	broad.mit.edu	GRCh37	1	92515977	92515977	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01	TCGA-32-4208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370383.4:c.708G>C	p.Lys236Asn	p.K236N	ENST00000370383	NM_173567.4	236	aaG/aaC	0			1			C	K/N	uc001don.2	protein_coding	YES	CCDS736.1			708/1089									central_nervous_system(1)	1	c.(706-708)AAG>AAC			Superfamily_domains:SSF53474,Pfam_domain:PF12697,Gene3D:3.40.50.1820,hmmpanther:PTHR10992:SF278,hmmpanther:PTHR10992	abhydrolase domain containing 7				ENSP00000359410		7-May									COSM3401087	7-May	.		ENST00000370383	Transcript				integral to membrane	hydrolase activity	ENSG00000172031	g.chr1:92515977G>C	23758			MODERATE		1.77	low	getma.org/?cm=msa&ty=f&p=EPHX4_HUMAN&rb=96&re=349&var=K236N	getma.org/pdb.php?prot=EPHX4_HUMAN&from=96&to=349&var=K236N	getma.org/?cm=var&var=hg19,1,92515977,G,C&fts=all	K236N	--	--	1																																			1	1		possibly_damaging(0.459)	p.K236N	NM_173567	NP_775838		tolerated(0.11)	1	EPHX4_HUMAN	EPHX4	HGNC	Q8IUS5	EPHX4_HUMAN					5	812	+			UPI000013E9F5	236					SNV	EPHX4,missense_variant,p.Lys236Asn,ENST00000370383,NM_173567.4;	uc001don.2	c.708G>C	806/1437	3	3			c.708G>C						1	SNP	c.(706-708)AAG>AAC	3	3			central_nervous_system(1)	1	Broad	abhydrolase domain containing 7			92515977		0.259	ENSG00000172031	5097	g.chr1:92515977G>C		integral to membrane	hydrolase activity	GBM(140;473 1857 5172 22066 49719)			GBM(140;473 1857 5172 22066 49719)			245.197675	KEEP	32	51	-1	29	52	32	51	-1	245.198977	29	52	0.496894	1	0	0	0	0	1	0	0	0	--	--		0	C				243	GBM-32-4208-TP	p.K236N	G	ATGATTTCAAGGTAAGCCAAA	NM_173567	NP_775838	92515977	Q8IUS5	EPHX4_HUMAN	0			5	812	+	C	C			Missense_Mutation	236						
EPM2A	0	broad.mit.edu	GRCh37	6	145948736	145948736	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01	TCGA-06-6391-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367519.3:c.812G>A	p.Gly271Asp	p.G271D	ENST00000367519	NM_005670.3	271	gGc/gAc	0			1			T	G/D	uc003qkw.2	protein_coding	YES	CCDS5206.1			812/996									pancreas(1)	1	c.(811-813)GGC>GAC			PROSITE_profiles:PS50056,PROSITE_profiles:PS50054,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF48,PROSITE_patterns:PS00383,Gene3D:3.90.190.10,Pfam_domain:PF00782,SMART_domains:SM00195,Superfamily_domains:SSF52799	laforin isoform a				ENSP00000356489		4-Apr										4-Apr	.		ENST00000367519	Transcript	1		glycogen metabolic process	cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome	carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000112425	g.chr6:145948736C>T	3413			MODERATE		1.94	medium	getma.org/?cm=msa&ty=f&p=EPM2A_HUMAN&rb=164&re=311&var=G271D	getma.org/pdb.php?prot=EPM2A_HUMAN&from=164&to=311&var=G271D	getma.org/?cm=var&var=hg19,6,145948736,C,T&fts=all	G271D	--	--	1																																		EPM2A_uc003qkv.2_Missense_Mutation_p.G271D|EPM2A_uc010khr.2_Silent_p.G190G|EPM2A_uc003qkx.2_Missense_Mutation_p.G133D|EPM2A_uc003qku.2_Missense_Mutation_p.G117D		1		probably_damaging(0.998)	p.G271D	NM_005670	NP_005661		tolerated(0.07)		EPM2A_HUMAN	EPM2A	HGNC	O95278	EPM2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)	H0UI04_HUMAN		4	1169	-		Ovarian(120;0.162)	UPI000006E60E	271			Tyrosine-protein phosphatase.		SNV	EPM2A,missense_variant,p.Gly271Asp,ENST00000367519,NM_005670.3;EPM2A,missense_variant,p.Gly191Asp,ENST00000435470,;EPM2A,intron_variant,,ENST00000450221,;	uc003qkw.2	c.812G>A	1338/3633	2	2			c.812G>A						6	SNP	c.(811-813)GGC>GAC	29	29			pancreas(1)	1	Broad	laforin isoform a			145948736		0.632	ENSG00000112425	5098	g.chr6:145948736C>T	glycogen metabolic process	cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome	carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity							48.193731	KEEP	8	12	-1	22	37	8	12	-1	51.99068	22	37	0.260274	1	0	0	0	0	1	0	0	0	--	--		0	T			EPM2A_uc003qkv.2_Missense_Mutation_p.G271D|EPM2A_uc010khr.2_Silent_p.G190G|EPM2A_uc003qkx.2_Missense_Mutation_p.G133D|EPM2A_uc003qku.2_Missense_Mutation_p.G117D	107	GBM-06-6391-TP	p.G271D	C	GGTGGAGCGGCCCACCCCAGC	NM_005670	NP_005661	145948736	O95278	EPM2A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)	4	1169	-	T	T		Ovarian(120;0.162)	Missense_Mutation	271			Tyrosine-protein phosphatase.			
EPN3	55040	broad.mit.edu	GRCh37	17	48614388	48614388	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2563-01	TCGA-06-2563-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268933.3:c.471G>A	p.Glu157=	p.E157=	ENST00000268933	NM_017957.2	157	gaG/gaA	0			1			A	E	uc002ira.3	protein_coding	YES	CCDS11570.1			471/1899									ovary(1)	1	c.(469-471)GAG>GAA			hmmpanther:PTHR12276,hmmpanther:PTHR12276:SF16	epsin 3				ENSP00000268933		10-Feb	8.24E-06							6.22E-05	rs750829727,COSM3402996	10-Feb	.		ENST00000268933	Transcript				clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding	ENSG00000049283	g.chr17:48614388G>A	18235			LOW								--	--	1																																		EPN3_uc010wms.1_Silent_p.E212E|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Silent_p.E157E	0,1	1			p.E157E	NM_017957	NP_060427			0,1	EPN3_HUMAN	EPN3	HGNC	Q9H201	EPN3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.88e-09)		D6RFG3_HUMAN,D6REL6_HUMAN,D6RBR6_HUMAN,D6RBI9_HUMAN		2	906	+	Breast(11;1.23e-18)		UPI0000073234	157					SNV	EPN3,synonymous_variant,p.=,ENST00000268933,NM_017957.2;EPN3,synonymous_variant,p.=,ENST00000537145,;EPN3,synonymous_variant,p.=,ENST00000541226,;EPN3,synonymous_variant,p.=,ENST00000503246,;EPN3,downstream_gene_variant,,ENST00000507467,;EPN3,downstream_gene_variant,,ENST00000503690,;EPN3,downstream_gene_variant,,ENST00000514874,;EPN3,downstream_gene_variant,,ENST00000515126,;EPN3,downstream_gene_variant,,ENST00000507709,;RP11-94C24.8,downstream_gene_variant,,ENST00000513017,;EPN3,downstream_gene_variant,,ENST00000515028,;EPN3,downstream_gene_variant,,ENST00000510462,;EPN3,downstream_gene_variant,,ENST00000511414,;EPN3,downstream_gene_variant,,ENST00000504857,;EPN3,downstream_gene_variant,,ENST00000507998,;EPN3,downstream_gene_variant,,ENST00000571402,;EPN3,synonymous_variant,p.=,ENST00000510045,;EPN3,synonymous_variant,p.=,ENST00000574464,;EPN3,3_prime_UTR_variant,,ENST00000512379,;EPN3,3_prime_UTR_variant,,ENST00000512291,;RP11-94C24.8,downstream_gene_variant,,ENST00000509260,;	uc002ira.3	c.471G>A	1050/4071	1	1			c.471G>A						17	SNP	c.(469-471)GAG>GAA	63	63			ovary(1)	1	Broad	epsin 3			48614388		0.657	ENSG00000049283	5102	g.chr17:48614388G>A		clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding							11.692126	KEEP	2	3	-1	6	6	2	3	-1	12.601112	6	6	0.25	1	0	0	0	0	0	0	1	0	--	--		0	A			EPN3_uc010wms.1_Silent_p.E212E|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Silent_p.E157E	86	GBM-06-2563-TP	p.E157E	G	TGGCACTGGAGGGCATCGGCA	NM_017957	NP_060427	48614388	Q9H201	EPN3_HUMAN	0	BRCA - Breast invasive adenocarcinoma(22;2.88e-09)		2	906	+	A	A	Breast(11;1.23e-18)		Silent	157						
EPO	0	broad.mit.edu	GRCh37	7	100319586	100319586	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01	TCGA-14-0790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252723.2:c.161C>T	p.Thr54Met	p.T54M	ENST00000252723	NM_000799.2	54	aCg/aTg	0			1			T	T/M	uc003uwi.2	protein_coding	YES	CCDS5705.1			161/582									central_nervous_system(2)	2	c.(160-162)ACG>ATG			hmmpanther:PTHR10370,PROSITE_patterns:PS00817,Pfam_domain:PF00758,Gene3D:1.20.1250.10,PIRSF_domain:PIRSF001951,Superfamily_domains:SSF47266,Prints_domain:PR00272	erythropoietin precursor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)			ENSP00000252723		5-Mar	8.24E-06					1.50E-05			rs201069425,COSM3411361	5-Mar	.		ENST00000252723	Transcript	1		blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity	ENSG00000130427	g.chr7:100319586C>T	3415			MODERATE		-2.3	neutral	getma.org/?cm=msa&ty=f&p=EPO_HUMAN&rb=30&re=193&var=T54M	getma.org/pdb.php?prot=EPO_HUMAN&from=30&to=193&var=T54M	getma.org/?cm=var&var=hg19,7,100319586,C,T&fts=all	T54M	--	--	1																																		EPO_uc011kkc.1_Missense_Mutation_p.T54M	0,1	1		benign(0.002)	p.T54M	NM_000799	NP_000790		tolerated(0.23)	0,1	EPO_HUMAN	EPO	HGNC	P01588	EPO_HUMAN			U3MHQ9_HUMAN,G9JKG7_HUMAN,B7ZKK5_HUMAN		3	342	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		UPI0000033477	54					SNV	EPO,missense_variant,p.Thr54Met,ENST00000252723,NM_000799.2;	uc003uwi.2	c.161C>T	342/1330	2	2			c.161C>T						7	SNP	c.(160-162)ACG>ATG	21	21			central_nervous_system(2)	2	Broad	erythropoietin precursor		Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	100319586		0.532	ENSG00000130427	5103	g.chr7:100319586C>T	blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			64			64	106.399252	KEEP	21	28	-1	75	93	21	28	-1	118.571342	75	93	0.234043	1	0	0	0	0	1	0	0	0	--	--		0	T			EPO_uc011kkc.1_Missense_Mutation_p.T54M	137	GBM-14-0790-TP	p.T54M	C	GCATTTCAGACGGGCTGTGCT	NM_000799	NP_000790	100319586	P01588	EPO_HUMAN	0			3	342	+	T	T	Lung NSC(181;0.041)|all_lung(186;0.0581)		Missense_Mutation	54						
EPPIN-WFDC6	100526773		GRCh37	20	44171338	44171338	+	splice_donor_variant	Splice_Site	SNP	C	C	T			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000504988.1:c.391+1G>A		p.X131_splice	ENST00000504988	NM_001198986.1	131		0																																																																																																																																																																																																																																												
EPPK1	83481	broad.mit.edu	GRCh37	8	144940328	144940328	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01	TCGA-06-0126-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000525985.1:c.7094G>A	p.Arg2365His	p.R2365H	ENST00000525985	NM_031308.2	2365	cGc/cAc	0			1			T	R/H	uc003zaa.1	protein_coding	YES				7094/7263									pancreas(1)|skin(1)	2	c.(15103-15105)CGC>CAC			Gene3D:3.90.1290.10,Pfam_domain:PF00681,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF252,SMART_domains:SM00250,Superfamily_domains:SSF75399	epiplakin 1				ENSP00000436337		2-Feb	2.47E-05					3.01E-05			rs781930002,COSM3412810	2-Feb	.		ENST00000525985	Transcript				cytoplasm|cytoskeleton	protein binding|structural molecule activity	ENSG00000227184	g.chr8:144940328C>T	15577			MODERATE		3.305	medium	getma.org/?cm=msa&ty=f&p=EPIPL_HUMAN&rb=2336&re=2380&var=R2365H	getma.org/pdb.php?prot=EPIPL_HUMAN&from=2336&to=2380&var=R2365H	getma.org/?cm=var&var=hg19,8,144940328,C,T&fts=all	R2365H	--	--	1																																			0,1	1		possibly_damaging(0.888)	p.R5035H	NM_031308	NP_112598			0,1		EPPK1	HGNC	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		E9PPU0_HUMAN		2	15117	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		UPI00006C0DF1	5035			Plectin 64.		SNV	EPPK1,missense_variant,p.Arg2365His,ENST00000525985,NM_031308.2;	uc003zaa.1	c.15104G>A	7166/7997	1	1			c.15104G>A						8	SNP	c.(15103-15105)CGC>CAC	14	14			pancreas(1)|skin(1)	2	Broad	epiplakin 1			144940328		0.692	ENSG00000227184	5105	g.chr8:144940328C>T		cytoplasm|cytoskeleton	protein binding|structural molecule activity							-42.01367	KEEP	21	16	-1	316	221	21	16	-1	46.690514	316	221	0.056075	1	0	0	0	0	1	0	0	0	--	--		0	T				13	GBM-06-0126-TP	p.R5035H	C	GAAGTAGCCGCGCCGGTAGGC	NM_031308	NP_112598	144940328	P58107	EPIPL_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	15117	-	T	T	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	5035			Plectin 64.			
EPPK1	83481	broad.mit.edu	GRCh37	8	144947336	144947336	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01	TCGA-06-0173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000525985.1:c.86C>T	p.Thr29Met	p.T29M	ENST00000525985	NM_031308.2	29	aCg/aTg	0			1			A	T/M	uc003zaa.1	protein_coding	YES				86/7263									pancreas(1)|skin(1)	2	c.(85-87)ACG>ATG				epiplakin 1				ENSP00000436337		2-Feb	1.66E-05		8.84E-05			1.64E-05			rs781912098,COSM3412816	2-Feb	.		ENST00000525985	Transcript				cytoplasm|cytoskeleton	protein binding|structural molecule activity	ENSG00000227184	g.chr8:144947336G>A	15577			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=EPIPL_HUMAN&rb=1&re=71&var=T29M	NA	getma.org/?cm=var&var=hg19,8,144947336,G,A&fts=all	T29M	--	--	1																																			0,1	1		benign(0.002)	p.T29M	NM_031308	NP_112598			0,1		EPPK1	HGNC	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		E9PPU0_HUMAN		1	99	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		UPI00006C0DF1	29					SNV	EPPK1,missense_variant,p.Thr29Met,ENST00000525985,NM_031308.2;	uc003zaa.1	c.86C>T	158/7997	2	2			c.86C>T						8	SNP	c.(85-87)ACG>ATG	23	23			pancreas(1)|skin(1)	2	Broad	epiplakin 1			144947336		0.672	ENSG00000227184	5105	g.chr8:144947336G>A		cytoplasm|cytoskeleton	protein binding|structural molecule activity							35.771513	KEEP	8	16	-1	14	18	8	16	-1	35.887344	14	18	0.433333	1	0	0	0	0	1	0	0	0	--	--		0	A				36	GBM-06-0173-TP	p.T29M	G	GGCTCCCAGCGTGGCTGCCAT	NM_031308	NP_112598	144947336	P58107	EPIPL_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	99	-	A	A	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	29						
EPPK1	83481	broad.mit.edu	GRCh37	8	144940504	144940504	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0219-01	TCGA-06-0219-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000525985.1:c.6918C>T	p.Ala2306=	p.A2306=	ENST00000525985	NM_031308.2	2306	gcC/gcT	0		A:0	1	A:0		A	A	uc003zaa.1	protein_coding	YES				6918/7263									pancreas(1)|skin(1)	2	c.(14926-14928)GCC>GCT			Gene3D:3.90.1290.10,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF252,SMART_domains:SM00250,Superfamily_domains:SSF75399	epiplakin 1		A:0.001		ENSP00000436337	A:0	2-Feb	4.95E-05			0.000117		3.02E-05		0.000121	rs555448234,COSM3412812	2-Feb	.		ENST00000525985	Transcript		A:0.0006		cytoplasm|cytoskeleton	protein binding|structural molecule activity	ENSG00000227184	g.chr8:144940504G>A	15577			LOW								--	--	1																																			0,1	1			p.A4976A	NM_031308	NP_112598	A:0.002		0,1		EPPK1	HGNC	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		E9PPU0_HUMAN		2	14941	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		UPI00006C0DF1	4976			Plectin 63.		SNV	EPPK1,synonymous_variant,p.=,ENST00000525985,NM_031308.2;	uc003zaa.1	c.14928C>T	6990/7997	2	2			c.14928C>T						8	SNP	c.(14926-14928)GCC>GCT	48	48			pancreas(1)|skin(1)	2	Broad	epiplakin 1			144940504		0.701	ENSG00000227184	5105	g.chr8:144940504G>A		cytoplasm|cytoskeleton	protein binding|structural molecule activity							-23.170706	KEEP	5	5	-1	129	150	5	5	-1	9.650334	129	150	0.041379	1	0	0	0	0	0	0	1	0	--	--		0	A				52	GBM-06-0219-TP	p.A4976A	G	AGCCGGTGACGGCGCGCTCGG	NM_031308	NP_112598	144940504	P58107	EPIPL_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	14941	-	A	A	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Silent	4976			Plectin 63.			
EPPK1	83481	broad.mit.edu	GRCh37	8	144945189	144945189	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6390-01	TCGA-06-6390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000525985.1:c.2233C>T	p.Arg745Trp	p.R745W	ENST00000525985	NM_031308.2	745	Cgg/Tgg	0			1			A	R/W	uc003zaa.1	protein_coding	YES				2233/7263									pancreas(1)|skin(1)	2	c.(2233-2235)CGG>TGG			Gene3D:3.90.1290.10,Pfam_domain:PF00681,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF252,SMART_domains:SM00250,Superfamily_domains:SSF75399	epiplakin 1				ENSP00000436337		2-Feb	8.27E-06		8.65E-05						rs782758450	2-Feb	.		ENST00000525985	Transcript				cytoplasm|cytoskeleton	protein binding|structural molecule activity	ENSG00000227184	g.chr8:144945189G>A	15577			MODERATE		1.75	low	getma.org/?cm=msa&ty=f&p=EPIPL_HUMAN&rb=717&re=761&var=R745W	getma.org/pdb.php?prot=EPIPL_HUMAN&from=717&to=761&var=R745W	getma.org/?cm=var&var=hg19,8,144945189,G,A&fts=all	R745W	--	--	1																																				1		possibly_damaging(0.892)	p.R745W	NM_031308	NP_112598					EPPK1	HGNC	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		E9PPU0_HUMAN		1	2246	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		UPI00006C0DF1	745			Plectin 14.		SNV	EPPK1,missense_variant,p.Arg745Trp,ENST00000525985,NM_031308.2;	uc003zaa.1	c.2233C>T	2305/7997	1	1			c.2233C>T						8	SNP	c.(2233-2235)CGG>TGG	61	61			pancreas(1)|skin(1)	2	Broad	epiplakin 1			144945189		0.652	ENSG00000227184	5105	g.chr8:144945189G>A		cytoplasm|cytoskeleton	protein binding|structural molecule activity							101.176139	KEEP	21	24	-1	65	78	21	24	-1	110.520972	65	78	0.24359	1	0	0	0	0	1	0	0	0	--	--		0	A				106	GBM-06-6390-TP	p.R745W	G	TAGCCGCGCCGGTAGGCCACG	NM_031308	NP_112598	144945189	P58107	EPIPL_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	2246	-	A	A	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	745			Plectin 14.			
EPPK1	0	broad.mit.edu	GRCh37	8	144941723	144941723	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-5299-01	TCGA-12-5299-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000525985.1:c.5699C>T	p.Ala1900Val	p.A1900V	ENST00000525985	NM_031308.2	1900	gCg/gTg	0	A:0.0002	A:0.0015	1	A:0		A	A/V	uc003zaa.1	protein_coding	YES				5699/7263									pancreas(1)|skin(1)	2	c.(5698-5700)GCG>GTG			Gene3D:3.90.1290.10,Pfam_domain:PF00681,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF252,SMART_domains:SM00250,Superfamily_domains:SSF75399	epiplakin 1		A:0	A:0.0006	ENSP00000436337	A:0.001	2-Feb	0.000926	0.000424	0.000961	0.000117		0.00137	0.00345	6.06E-05	rs200834681,COSM3412815	2-Feb	common_variant		ENST00000525985	Transcript		A:0.0006		cytoplasm|cytoskeleton	protein binding|structural molecule activity	ENSG00000227184	g.chr8:144941723G>A	15577			MODERATE		2.315	medium	getma.org/?cm=msa&ty=f&p=EPIPL_HUMAN&rb=1890&re=1933&var=A1900V	NA	getma.org/?cm=var&var=hg19,8,144941723,G,A&fts=all	A1900V	--	--	1																																			0,1	1		probably_damaging(0.999)	p.A1900V	NM_031308	NP_112598	A:0		0,1		EPPK1	HGNC	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		E9PPU0_HUMAN		1	5712	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		UPI00006C0DF1	1900			Plectin 31.		SNV	EPPK1,missense_variant,p.Ala1900Val,ENST00000525985,NM_031308.2;	uc003zaa.1	c.5699C>T	5771/7997	1	1			c.5699C>T						8	SNP	c.(5698-5700)GCG>GTG	50	50			pancreas(1)|skin(1)	2	Broad	epiplakin 1			144941723		0.632	ENSG00000227184	5105	g.chr8:144941723G>A		cytoplasm|cytoskeleton	protein binding|structural molecule activity							81.059483	KEEP	13	16	-1	17	20	13	16	-1	81.182741	17	20	0.453125	1	0	0	0	0	1	0	0	0	--	--		0	A				130	GBM-12-5299-TP	p.A1900V	G	CGTGACCCCCGCAATGCAGCC	NM_031308	NP_112598	144941723	P58107	EPIPL_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	5712	-	A	A	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	1900			Plectin 31.			
EPPK1	0	broad.mit.edu	GRCh37	8	144940353	144940353	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000525985.1:c.7069G>A	p.Val2357Met	p.V2357M	ENST00000525985	NM_031308.2	2357	Gtg/Atg	0			1			T	V/M	uc003zaa.1	protein_coding	YES				7069/7263									pancreas(1)|skin(1)	2	c.(15079-15081)GTG>ATG			Gene3D:3.90.1290.10,Pfam_domain:PF00681,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF252,SMART_domains:SM00250,Superfamily_domains:SSF75399	epiplakin 1				ENSP00000436337		2-Feb	1.65E-05					3.02E-05			rs782641859,COSM3412811	2-Feb	.		ENST00000525985	Transcript				cytoplasm|cytoskeleton	protein binding|structural molecule activity	ENSG00000227184	g.chr8:144940353C>T	15577			MODERATE		1.945	medium	getma.org/?cm=msa&ty=f&p=EPIPL_HUMAN&rb=2336&re=2380&var=V2357M	getma.org/pdb.php?prot=EPIPL_HUMAN&from=2336&to=2380&var=V2357M	getma.org/?cm=var&var=hg19,8,144940353,C,T&fts=all	V2357M	--	--	1																																			0,1	1		possibly_damaging(0.739)	p.V5027M	NM_031308	NP_112598			0,1		EPPK1	HGNC	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		E9PPU0_HUMAN		2	15092	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		UPI00006C0DF1	5027			Plectin 64.		SNV	EPPK1,missense_variant,p.Val2357Met,ENST00000525985,NM_031308.2;	uc003zaa.1	c.15079G>A	7141/7997	1	1			c.15079G>A						8	SNP	c.(15079-15081)GTG>ATG	9	9			pancreas(1)|skin(1)	2	Broad	epiplakin 1			144940353		0.692	ENSG00000227184	5105	g.chr8:144940353C>T		cytoplasm|cytoskeleton	protein binding|structural molecule activity							-16.305765	KEEP	29	25	-1	317	333	29	25	-1	75.754451	317	333	0.074597	1	0	0	0	0	1	0	0	0	--	--		0	T				218	GBM-28-5209-TP	p.V5027M	C	TCCACGGGCACGCGGTGGCTG	NM_031308	NP_112598	144940353	P58107	EPIPL_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	15092	-	T	T	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	5027			Plectin 64.			
EPPK1	83481		GRCh37	8	144940918	144940918	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000525985.1:c.6504C>A	p.Ser2168Arg	p.S2168R	ENST00000525985	NM_031308.2	2168	agC/agA	0																																																																																																																																																																																																																																												
EPRS	0	broad.mit.edu	GRCh37	1	220154727	220154727	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-2625-01	TCGA-19-2625-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366923.3:c.3446A>G	p.Asn1149Ser	p.N1149S	ENST00000366923	NM_004446.2	1149	aAt/aGt	0	C:0		1			C	N/S	uc001hly.1	protein_coding	YES	CCDS31027.1			3446/4539									ovary(1)|skin(1)	2	c.(3445-3447)AAT>AGT			Superfamily_domains:SSF55681,Gene3D:3.30.930.10,TIGRFAM_domain:TIGR00408,Pfam_domain:PF00587,hmmpanther:PTHR10119:SF15,hmmpanther:PTHR10119,PROSITE_profiles:PS50862,HAMAP:MF_01571	glutamyl-prolyl tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)		C:0.0001	ENSP00000355890		24/32	3.29E-05			0.000348		1.50E-05			rs372289785,COSM3400336	24/32	.		ENST00000366923	Transcript			glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	ENSG00000136628	g.chr1:220154727T>C	3418			MODERATE		0.72	neutral	getma.org/?cm=msa&ty=f&p=SYEP_HUMAN&rb=1056&re=1232&var=N1149S	getma.org/pdb.php?prot=SYEP_HUMAN&from=1056&to=1232&var=N1149S	getma.org/?cm=var&var=hg19,1,220154727,T,C&fts=all	N1149S	--	--	1																																			0,1	1		benign(0.321)	p.N1149S	NM_004446	NP_004437		tolerated(0.27)	0,1	SYEP_HUMAN	EPRS	HGNC	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)			24	3716	-			UPI0000205E8C	1149			Prolyl-tRNA synthetase.		SNV	EPRS,missense_variant,p.Asn1149Ser,ENST00000366923,NM_004446.2;EPRS,downstream_gene_variant,,ENST00000485821,;	uc001hly.1	c.3446A>G	3716/5014	3	3			c.3446A>G						1	SNP	c.(3445-3447)AAT>AGT	50	50			ovary(1)|skin(1)	2	Broad	glutamyl-prolyl tRNA synthetase		L-Glutamic Acid(DB00142)|L-Proline(DB00172)	220154727		0.358	ENSG00000136628	5106	g.chr1:220154727T>C	glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding							146.784002	KEEP	27	21	-1	21	32	27	21	-1	146.941093	21	32	0.456522	1	0	0	0	0	1	0	0	0	--	--		0	C				165	GBM-19-2625-TP	p.N1149S	T	TACCACCACATTGCACCACTG	NM_004446	NP_004437	220154727	P07814	SYEP_HUMAN	0		GBM - Glioblastoma multiforme(131;0.0735)	24	3716	-	C	C			Missense_Mutation	1149			Prolyl-tRNA synthetase.			
EPRS	0	broad.mit.edu	GRCh37	1	220146600	220146600	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01	TCGA-32-4208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366923.3:c.4224C>G	p.Ile1408Met	p.I1408M	ENST00000366923	NM_004446.2	1408	atC/atG	0			1			C	I/M	uc001hly.1	protein_coding	YES	CCDS31027.1			4224/4539									ovary(1)|skin(1)	2	c.(4222-4224)ATC>ATG			Superfamily_domains:SSF52954,TIGRFAM_domain:TIGR00408,Gene3D:3.40.50.800,HAMAP:MF_01571	glutamyl-prolyl tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)			ENSP00000355890		29/32									COSM3400335	29/32	.		ENST00000366923	Transcript			glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	ENSG00000136628	g.chr1:220146600G>C	3418			MODERATE		2.25	medium	getma.org/?cm=msa&ty=f&p=SYEP_HUMAN&rb=1375&re=1459&var=I1408M	NA	getma.org/?cm=var&var=hg19,1,220146600,G,C&fts=all	I1408M	--	--	1																																			1	1		possibly_damaging(0.814)	p.I1408M	NM_004446	NP_004437		tolerated(0.08)	1	SYEP_HUMAN	EPRS	HGNC	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)			29	4494	-			UPI0000205E8C	1408			Prolyl-tRNA synthetase.		SNV	EPRS,missense_variant,p.Ile1408Met,ENST00000366923,NM_004446.2;EPRS,upstream_gene_variant,,ENST00000468487,;	uc001hly.1	c.4224C>G	4494/5014	3	3			c.4224C>G						1	SNP	c.(4222-4224)ATC>ATG	63	63			ovary(1)|skin(1)	2	Broad	glutamyl-prolyl tRNA synthetase		L-Glutamic Acid(DB00142)|L-Proline(DB00172)	220146600		0.423	ENSG00000136628	5106	g.chr1:220146600G>C	glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding							-58.672548	KEEP	2	5	-1	124	187	2	5	-1	12.067707	124	187	0.01845	1	0	0	0	0	1	0	0	0	--	--		0	C				243	GBM-32-4208-TP	p.I1408M	G	GGGTGACCTGGATGTCTTCCA	NM_004446	NP_004437	220146600	P07814	SYEP_HUMAN	0		GBM - Glioblastoma multiforme(131;0.0735)	29	4494	-	C	C			Missense_Mutation	1408			Prolyl-tRNA synthetase.			
EPS15	2060		GRCh37	1	51869155	51869155	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000371733.3:c.1727A>G	p.Glu576Gly	p.E576G	ENST00000371733	NM_001981.2	576	gAg/gGg	0																																																																																																																																																																																																																																												
EPS15L1	0	broad.mit.edu	GRCh37	19	16515514	16515514	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-2491-01	TCGA-32-2491-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000248070.6:c.1313T>C	p.Leu438Pro	p.L438P	ENST00000248070	NM_021235.2	438	cTc/cCc	0			1			G	L/P	uc002ndz.1	protein_coding		CCDS32944.1			1313/2595									ovary(3)|skin(2)	5	c.(1312-1314)CTC>CCC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11216:SF69,hmmpanther:PTHR11216,Superfamily_domains:SSF90257	epidermal growth factor receptor pathway				ENSP00000248070		14/23									COSM3403892	14/23	.		ENST00000248070	Transcript			endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	ENSG00000127527	g.chr19:16515514A>G	24634			MODERATE		2.465	medium	getma.org/?cm=msa&ty=f&p=EP15R_HUMAN&rb=422&re=554&var=L438P	NA	getma.org/?cm=var&var=hg19,19,16515514,A,G&fts=all	L438P	--	--	1																																		EPS15L1_uc002ndx.2_Missense_Mutation_p.L438P|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Missense_Mutation_p.L328P|EPS15L1_uc010xpf.1_Missense_Mutation_p.L341P|EPS15L1_uc002nea.1_Missense_Mutation_p.L438P|EPS15L1_uc010eah.1_Missense_Mutation_p.L438P|EPS15L1_uc002neb.1_Missense_Mutation_p.L284P|EPS15L1_uc002nec.1_Missense_Mutation_p.L438P	1			probably_damaging(0.992)	p.L438P	NM_021235	NP_067058		deleterious(0)	1	EP15R_HUMAN	EPS15L1	HGNC	Q9UBC2	EP15R_HUMAN			B4DME4_HUMAN		14	1319	-			UPI0000073E6D	438					SNV	EPS15L1,missense_variant,p.Leu284Pro,ENST00000602009,;EPS15L1,missense_variant,p.Leu438Pro,ENST00000597937,NM_001258376.1;EPS15L1,missense_variant,p.Leu438Pro,ENST00000455140,NM_001258374.1;EPS15L1,missense_variant,p.Leu438Pro,ENST00000248070,NM_021235.2;EPS15L1,missense_variant,p.Leu438Pro,ENST00000535753,NM_001258375.1;EPS15L1,missense_variant,p.Leu438Pro,ENST00000594975,;EPS15L1,upstream_gene_variant,,ENST00000599790,;EPS15L1,missense_variant,p.Leu438Pro,ENST00000602022,;EPS15L1,3_prime_UTR_variant,,ENST00000592031,;	uc002ndz.1	c.1313T>C	1453/2924	3	3			c.1313T>C						19	SNP	c.(1312-1314)CTC>CCC	64	64			ovary(3)|skin(2)	5	Broad	epidermal growth factor receptor pathway			16515514		0.542	ENSG00000127527	5108	g.chr19:16515514A>G	endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding							-14.727073	KEEP	1	1	-1	42	45	1	1	-1	6.449899	42	45	0.02381	1	0	0	0	0	1	0	0	0	--	--		0	G			EPS15L1_uc002ndx.2_Missense_Mutation_p.L438P|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Missense_Mutation_p.L328P|EPS15L1_uc010xpf.1_Missense_Mutation_p.L341P|EPS15L1_uc002nea.1_Missense_Mutation_p.L438P|EPS15L1_uc010eah.1_Missense_Mutation_p.L438P|EPS15L1_uc002neb.1_Missense_Mutation_p.L284P|EPS15L1_uc002nec.1_Missense_Mutation_p.L438P	235	GBM-32-2491-TP	p.L438P	A	CTGAGCCTCGAGCTCCTGCAA	NM_021235	NP_067058	16515514	Q9UBC2	EP15R_HUMAN	0			14	1319	-	G	G			Missense_Mutation	438						
EPS8	2059	broad.mit.edu	GRCh37	12	15807133	15807133	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-6390-01	TCGA-06-6390-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281172.5:c.1196A>G	p.Asn399Ser	p.N399S	ENST00000281172	NM_004447.5	399	aAt/aGt	0			1			C	N/S	uc009zif.2	protein_coding	YES	CCDS31753.1			1196/2469									ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4	c.(1195-1197)AAT>AGT			hmmpanther:PTHR12287,hmmpanther:PTHR12287:SF21	epidermal growth factor receptor pathway				ENSP00000281172		13/21	8.24E-06		8.70E-05						rs764011011	13/21	.		ENST00000281172	Transcript	1		cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity	ENSG00000151491	g.chr12:15807133T>C	3420			MODERATE		0.44	neutral	getma.org/?cm=msa&ty=f&p=EPS8_HUMAN&rb=381&re=414&var=N399S	NA	getma.org/?cm=var&var=hg19,12,15807133,T,C&fts=all	N399S	--	--	1																																		EPS8_uc001rdb.2_Missense_Mutation_p.N399S|EPS8_uc009zig.2_Missense_Mutation_p.N139S|EPS8_uc010shv.1_Missense_Mutation_p.N139S		1		benign(0.001)	p.N399S	NM_004447	NP_004438		tolerated(0.18)		EPS8_HUMAN	EPS8	HGNC	Q12929	EPS8_HUMAN		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)	F5H3Q6_HUMAN,F5H2B8_HUMAN,F5H1B5_HUMAN,F5GYM8_HUMAN,B4DX66_HUMAN		13	1290	-		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)	UPI000012A0BC	399			PH; second part.		SNV	EPS8,missense_variant,p.Asn399Ser,ENST00000281172,NM_004447.5;EPS8,missense_variant,p.Asn399Ser,ENST00000543523,;EPS8,missense_variant,p.Asn399Ser,ENST00000543612,;EPS8,missense_variant,p.Asn139Ser,ENST00000540613,;EPS8,missense_variant,p.Asn139Ser,ENST00000542903,;EPS8,3_prime_UTR_variant,,ENST00000543468,;EPS8,non_coding_transcript_exon_variant,,ENST00000541465,;EPS8,downstream_gene_variant,,ENST00000546261,;EPS8,downstream_gene_variant,,ENST00000535734,;	uc009zif.2	c.1196A>G	1633/4061	3	3			c.1196A>G						12	SNP	c.(1195-1197)AAT>AGT	57	57			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4	Broad	epidermal growth factor receptor pathway			15807133		0.418	ENSG00000151491	5109	g.chr12:15807133T>C	cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity							-22.883389	KEEP	2	1	-1	56	68	2	1	-1	6.567007	56	68	0.025424	1	0	0	0	0	1	0	0	0	--	--		0	C			EPS8_uc001rdb.2_Missense_Mutation_p.N399S|EPS8_uc009zig.2_Missense_Mutation_p.N139S|EPS8_uc010shv.1_Missense_Mutation_p.N139S	106	GBM-06-6390-TP	p.N399S	T	TTCATCACCATTGACAGTATA	NM_004447	NP_004438	15807133	Q12929	EPS8_HUMAN	0		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)	13	1290	-	C	C		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)	Missense_Mutation	399			PH; second part.			
EPS8L1	0	broad.mit.edu	GRCh37	19	55593671	55593671	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01	TCGA-32-2634-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000201647.6:c.1019C>T	p.Pro340Leu	p.P340L	ENST00000201647	NM_133180.2	340	cCc/cTc	0			1			T	P/L	uc002qis.3	protein_coding	YES	CCDS12914.1			1019/2172										0	c.(1018-1020)CCC>CTC			hmmpanther:PTHR12287,hmmpanther:PTHR12287:SF19	epidermal growth factor receptor pathway				ENSP00000201647		20-Nov									COSM3404627,COSM3404628,COSM3404629	20-Nov	.		ENST00000201647	Transcript				cytoplasm		ENSG00000131037	g.chr19:55593671C>T	21295			MODERATE		2.785	medium	getma.org/?cm=msa&ty=f&p=ES8L1_HUMAN&rb=166&re=365&var=P340L	NA	getma.org/?cm=var&var=hg19,19,55593671,C,T&fts=all	P340L	--	--	1																																		EPS8L1_uc010ess.1_Missense_Mutation_p.P322L|EPS8L1_uc010est.1_Missense_Mutation_p.P340L|EPS8L1_uc010yfr.1_Missense_Mutation_p.P276L|EPS8L1_uc010esu.1_RNA|EPS8L1_uc002qiu.2_Missense_Mutation_p.P213L|EPS8L1_uc002qiv.2_5'UTR|EPS8L1_uc002qiw.2_Missense_Mutation_p.P87L	1,1,1	1		probably_damaging(1)	p.P340L	NM_133180	NP_573441		deleterious(0)	1,1,1	ES8L1_HUMAN	EPS8L1	HGNC	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	B4DKV7_HUMAN		11	1123	+			UPI000013C630	340					SNV	EPS8L1,missense_variant,p.Pro340Leu,ENST00000201647,NM_133180.2;EPS8L1,missense_variant,p.Pro276Leu,ENST00000540810,;EPS8L1,missense_variant,p.Pro213Leu,ENST00000245618,NM_017729.3;EPS8L1,missense_variant,p.Pro322Leu,ENST00000586329,;EPS8L1,intron_variant,,ENST00000588359,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000592824,;EPS8L1,upstream_gene_variant,,ENST00000587901,;EPS8L1,upstream_gene_variant,,ENST00000585347,;EPS8L1,missense_variant,p.Pro302Leu,ENST00000587786,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000592102,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000589362,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000592284,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000590610,;EPS8L1,upstream_gene_variant,,ENST00000587715,;EPS8L1,downstream_gene_variant,,ENST00000591219,;EPS8L1,downstream_gene_variant,,ENST00000590232,;EPS8L1,downstream_gene_variant,,ENST00000592044,;EPS8L1,upstream_gene_variant,,ENST00000589694,;EPS8L1,downstream_gene_variant,,ENST00000592318,;	uc002qis.3	c.1019C>T	1075/2536	2	2			c.1019C>T						19	SNP	c.(1018-1020)CCC>CTC	48	48				0	Broad	epidermal growth factor receptor pathway			55593671		0.662	ENSG00000131037	5110	g.chr19:55593671C>T		cytoplasm		Ovarian(149;255 1863 3636 27051 29647)			Ovarian(149;255 1863 3636 27051 29647)			69.575214	KEEP	7	16	-1	7	9	7	16	-1	69.792473	7	9	0.583333	1	0	0	0	0	1	0	0	0	--	--		0	T			EPS8L1_uc010ess.1_Missense_Mutation_p.P322L|EPS8L1_uc010est.1_Missense_Mutation_p.P340L|EPS8L1_uc010yfr.1_Missense_Mutation_p.P276L|EPS8L1_uc010esu.1_RNA|EPS8L1_uc002qiu.2_Missense_Mutation_p.P213L|EPS8L1_uc002qiv.2_5'UTR|EPS8L1_uc002qiw.2_Missense_Mutation_p.P87L	241	GBM-32-2634-TP	p.P340L	C	ATCGCCGACCCCTCCTCTCCG	NM_133180	NP_573441	55593671	Q8TE68	ES8L1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	11	1123	+	T	T			Missense_Mutation	340						
EPS8L1	54869		GRCh37	19	55597484	55597484	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000201647.6:c.1574G>A	p.Gly525Glu	p.G525E	ENST00000201647	NM_133180.2	525	gGa/gAa	0																																																																																																																																																																																																																																												
EPS8L3	79574		GRCh37	1	110293381	110293381	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000369805.3:c.1674C>T	p.Ser558=	p.S558=	ENST00000369805	NM_139053.2	558	agC/agT	0																																																																																																																																																																																																																																												
EPT1	0	broad.mit.edu	GRCh37	2	26596336	26596336	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5960-01	TCGA-19-5960-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260585.7:c.412G>A	p.Val138Met	p.V138M	ENST00000260585	NM_033505.2	138	Gtg/Atg	0			1			A	V/M	uc010ykz.1	protein_coding	YES	CCDS46240.1			412/1194										0	c.(412-414)GTG>ATG			Pfam_domain:PF01066,PIRSF_domain:PIRSF015665,hmmpanther:PTHR10414,hmmpanther:PTHR10414:SF33,Transmembrane_helices:TMhelix	selenoprotein I				ENSP00000260585		10-May									COSM3407778	10-May	.		ENST00000260585	Transcript			phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding	ENSG00000138018	g.chr2:26596336G>A	29361			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=EPT1_HUMAN&rb=46&re=342&var=V138M	NA	getma.org/?cm=var&var=hg19,2,26596336,G,A&fts=all	V138M	--	--	1																																		EPT1_uc010eyl.1_RNA	1	1		probably_damaging(0.968)	p.V138M	NM_033505	NP_277040		deleterious(0.02)	1	EPT1_HUMAN	EPT1	HGNC	Q9C0D9	EPT1_HUMAN			G1UI38_HUMAN,C9JEZ2_HUMAN,C9J9I1_HUMAN		5	559	+			UPI00003CE422	138			Helical; (Potential).		SNV	EPT1,missense_variant,p.Val138Met,ENST00000260585,NM_033505.2;EPT1,missense_variant,p.Val106Met,ENST00000442141,;EPT1,intron_variant,,ENST00000447170,;	uc010ykz.1	c.412G>A	531/8101	2	2			c.412G>A						2	SNP	c.(412-414)GTG>ATG	32	32				0	Broad	selenoprotein I			26596336		0.433	ENSG00000138018	5114	g.chr2:26596336G>A	phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding							44.519094	KEEP	8	9	-1	9	14	8	9	-1	44.621852	9	14	0.441176	1	0	0	0	0	1	0	0	0	--	--		0	A			EPT1_uc010eyl.1_RNA	178	GBM-19-5960-TP	p.V138M	G	TTACTTTGTTGTGACTGTTTA	NM_033505	NP_277040	26596336	Q9C0D9	EPT1_HUMAN	0			5	559	+	A	A			Missense_Mutation	138			Helical; (Potential).			
EPX	0	broad.mit.edu	GRCh37	17	56280591	56280591	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000225371.5:c.1858G>A	p.Ala620Thr	p.A620T	ENST00000225371	NM_000502.4	620	Gct/Act	0			1			A	A/T	uc002ivq.2	protein_coding	YES	CCDS11602.1			1858/2148									ovary(2)	2	c.(1858-1860)GCT>ACT			PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF49,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113	eosinophil peroxidase preproprotein				ENSP00000225371		13-Nov									COSM2155194	13-Nov	.		ENST00000225371	Transcript	1		hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	ENSG00000121053	g.chr17:56280591G>A	3423			MODERATE		2.595	medium	getma.org/?cm=msa&ty=f&p=PERE_HUMAN&rb=145&re=689&var=A620T	getma.org/pdb.php?prot=PERE_HUMAN&from=145&to=689&var=A620T	getma.org/?cm=var&var=hg19,17,56280591,G,A&fts=all	A620T	--	--	1																																			1	1		possibly_damaging(0.552)	p.A620T	NM_000502	NP_000493		deleterious(0.02)	1	PERE_HUMAN	EPX	HGNC	P11678	PERE_HUMAN					11	1944	+			UPI0000131629	620					SNV	EPX,missense_variant,p.Ala620Thr,ENST00000225371,NM_000502.4;MKS1,downstream_gene_variant,,ENST00000393119,NM_017777.3;MKS1,downstream_gene_variant,,ENST00000313863,;MKS1,downstream_gene_variant,,ENST00000537529,NM_001165927.1;MKS1,downstream_gene_variant,,ENST00000546108,;MKS1,downstream_gene_variant,,ENST00000337050,;MKS1,downstream_gene_variant,,ENST00000577824,;MKS1,downstream_gene_variant,,ENST00000585134,;MKS1,downstream_gene_variant,,ENST00000577315,;MKS1,downstream_gene_variant,,ENST00000393120,;MKS1,downstream_gene_variant,,ENST00000583577,;MKS1,downstream_gene_variant,,ENST00000579358,;	uc002ivq.2	c.1858G>A	1968/2708	1	1			c.1858G>A						17	SNP	c.(1858-1860)GCT>ACT	64	64			ovary(2)	2	Broad	eosinophil peroxidase preproprotein			56280591		0.547	ENSG00000121053	5115	g.chr17:56280591G>A	hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding							121.023655	KEEP	21	31	-1	57	58	21	31	-1	126.149202	57	58	0.304636	1	0	0	0	0	1	0	0	0	--	--		0	A				142	GBM-14-1034-TP	p.A620T	G	TGGGGCCATCGCTGAGCCTCT	NM_000502	NP_000493	56280591	P11678	PERE_HUMAN	0			11	1944	+	A	A			Missense_Mutation	620						
EPX	0	broad.mit.edu	GRCh37	17	56270743	56270743	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-6173-01	TCGA-26-6173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000225371.5:c.182G>A	p.Arg61Gln	p.R61Q	ENST00000225371	NM_000502.4	61	cGg/cAg	0	A:0		1			A	R/Q	uc002ivq.2	protein_coding	YES	CCDS11602.1			182/2148									ovary(2)	2	c.(181-183)CGG>CAG			hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF49	eosinophil peroxidase preproprotein			A:0.0001	ENSP00000225371		13-Mar	4.94E-05					9.01E-05			rs200653613,COSM3403044	13-Mar	.		ENST00000225371	Transcript	1		hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	ENSG00000121053	g.chr17:56270743G>A	3423			MODERATE		2.52	medium	getma.org/?cm=msa&ty=f&p=PERE_HUMAN&rb=1&re=144&var=R61Q	NA	getma.org/?cm=var&var=hg19,17,56270743,G,A&fts=all	R61Q	--	--	1																																			0,1	1		benign(0.068)	p.R61Q	NM_000502	NP_000493		tolerated(0.1)	0,1	PERE_HUMAN	EPX	HGNC	P11678	PERE_HUMAN					3	268	+			UPI0000131629	61					SNV	EPX,missense_variant,p.Arg61Gln,ENST00000225371,NM_000502.4;	uc002ivq.2	c.182G>A	292/2708	2	2			c.182G>A						17	SNP	c.(181-183)CGG>CAG	47	47			ovary(2)	2	Broad	eosinophil peroxidase preproprotein			56270743		0.612	ENSG00000121053	5115	g.chr17:56270743G>A	hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding							52.945611	KEEP	17	11	-1	67	59	17	11	-1	64.424199	67	59	0.188976	1	0	0	0	0	1	0	0	0	--	--		0	A				187	GBM-26-6173-TP	p.R61Q	G	ATCAAGCAGCGGCTTCGCAGC	NM_000502	NP_000493	56270743	P11678	PERE_HUMAN	0			3	268	+	A	A			Missense_Mutation	61						
EPYC	0	broad.mit.edu	GRCh37	12	91363838	91363838	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261172.3:c.781C>T	p.Arg261Ter	p.R261*	ENST00000261172	NM_004950.4	261	Cga/Tga	0	A:0		1			A	R/*	uc001tbk.2	protein_coding	YES	CCDS31870.1			781/969									skin(1)	1	c.(781-783)CGA>TGA			Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24371,hmmpanther:PTHR24371:SF4,SMART_domains:SM00369,Superfamily_domains:SSF52058	dermatan sulfate proteoglycan 3 precursor			A:0.0001	ENSP00000261172		7-Jun	1.65E-05					3.00E-05			rs374036301,COSM3399172	7-Jun	.		ENST00000261172	Transcript			female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	ENSG00000083782	g.chr12:91363838G>A	3053			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,12,91363838,G,A&fts=all	R261*	--	--	1																																			0,1	1			p.R261*	NM_004950	NP_004941			0,1	EPYC_HUMAN	EPYC	HGNC	Q99645	EPYC_HUMAN			F8VSI4_HUMAN		6	874	-			UPI000013D136	261			LRR 5.		SNV	EPYC,stop_gained,p.Arg261Ter,ENST00000261172,NM_004950.4;EPYC,downstream_gene_variant,,ENST00000551767,;EPYC,downstream_gene_variant,,ENST00000550203,;	uc001tbk.2	c.781C>T	874/1539	5	2			c.781C>T						12	SNP	c.(781-783)CGA>TGA	43	43			skin(1)	1	Broad	dermatan sulfate proteoglycan 3 precursor			91363838		0.478	ENSG00000083782	5116	g.chr12:91363838G>A	female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding							243.379986	KEEP	45	58	-1	104	106	45	58	-1	249.301173	104	106	0.336	1	0	0	0	0	0	1	0	0	--	--		0	A				190	GBM-27-1831-TP	p.R261*	G	TGAAGGGCTCGTAGATTTTCT	NM_004950	NP_004941	91363838	Q99645	EPYC_HUMAN	0			6	874	-	A	A			Nonsense_Mutation	261			LRR 5.			
ERAL1	0	broad.mit.edu	GRCh37	17	27182172	27182172	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-19-5958-01	TCGA-19-5958-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254928.5:c.120A>G	p.Gln40=	p.Q40=	ENST00000254928	NM_005702.2	40	caA/caG	0			1			G	Q	uc002hcy.1	protein_coding	YES	CCDS11244.1			120/1314									skin(1)	1	c.(118-120)CAA>CAG			hmmpanther:PTHR11649,hmmpanther:PTHR11649:SF3	Era-like 1				ENSP00000254928		10-Jan									COSM2156827	10-Jan	.		ENST00000254928	Transcript			ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding	ENSG00000132591	g.chr17:27182172A>G	3424			LOW								--	--	1																																		ERAL1_uc002hcx.1_Silent_p.Q40Q|ERAL1_uc002hcz.1_RNA|ERAL1_uc002hda.1_5'Flank|ERAL1_uc002hdb.1_5'Flank	1	1			p.Q40Q	NM_005702	NP_005693			1	ERAL1_HUMAN	ERAL1	HGNC	O75616	ERAL1_HUMAN	Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)				1	130	+	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		UPI000006DECC	40					SNV	ERAL1,synonymous_variant,p.=,ENST00000254928,NM_005702.2;ERAL1,synonymous_variant,p.=,ENST00000580917,;FAM222B,5_prime_UTR_variant,,ENST00000577513,;ERAL1,upstream_gene_variant,,ENST00000583487,;FAM222B,upstream_gene_variant,,ENST00000583953,;ERAL1,non_coding_transcript_exon_variant,,ENST00000578001,;ERAL1,synonymous_variant,p.=,ENST00000461894,;ERAL1,synonymous_variant,p.=,ENST00000412138,;ERAL1,upstream_gene_variant,,ENST00000471992,;ERAL1,upstream_gene_variant,,ENST00000577942,;	uc002hcy.1	c.120A>G	217/1925	4	4			c.120A>G						17	SNP	c.(118-120)CAA>CAG	28	28			skin(1)	1	Broad	Era-like 1			27182172		0.627	ENSG00000132591	5117	g.chr17:27182172A>G	ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding							62.137749	KEEP	11	16	-1	61	48	11	16	-1	71.371164	61	48	0.206897	1	0	0	0	0	0	0	1	0	--	--		0	G			ERAL1_uc002hcx.1_Silent_p.Q40Q|ERAL1_uc002hcz.1_RNA|ERAL1_uc002hda.1_5'Flank|ERAL1_uc002hdb.1_5'Flank	176	GBM-19-5958-TP	p.Q40Q	A	TAGGCTTCCAACGGAGGTGCG	NM_005702	NP_005693	27182172	O75616	ERAL1_HUMAN	0	Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)		1	130	+	G	G	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Silent	40						
ERAP2	0	broad.mit.edu	GRCh37	5	96239220	96239220	+	synonymous_variant	Silent	SNP	T	T	C	rs115987752	by1000genomes	TCGA-28-5204-01	TCGA-28-5204-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000437043.3:c.1968T>C	p.Pro656=	p.P656=	ENST00000437043	NM_001130140.1	656	ccT/ccC	0		C:0.0015	1	C:0		C	P	uc003kmq.2	protein_coding	YES	CCDS4086.1			1968/2883										0	c.(1966-1968)CCT>CCC			hmmpanther:PTHR11533:SF166,hmmpanther:PTHR11533,Pfam_domain:PF11838	endoplasmic reticulum aminopeptidase 2		C:0		ENSP00000400376	C:0	13/19	8.24E-06	9.61E-05							rs115987752,COSM3410489	13/19	.		ENST00000437043	Transcript		C:0.0004	antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	ENSG00000164308	g.chr5:96239220T>C	29499			LOW								--	--	1																																		uc003kmo.1_Intron|ERAP2_uc003kmt.2_Silent_p.P656P|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Silent_p.P605P|ERAP2_uc003kmu.2_RNA	0,1	1			p.P656P	NM_022350	NP_071745	C:0		0,1	ERAP2_HUMAN	ERAP2	HGNC	Q6P179	ERAP2_HUMAN		COAD - Colon adenocarcinoma(37;0.0703)	D6RGW0_HUMAN		13	2678	+		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)	UPI0000036336	656			Lumenal (Potential).		SNV	ERAP2,synonymous_variant,p.=,ENST00000437043,NM_001130140.1,NM_022350.3;ERAP2,synonymous_variant,p.=,ENST00000379904,;ERAP2,synonymous_variant,p.=,ENST00000510373,;CTD-2260A17.2,intron_variant,,ENST00000501338,;ERAP2,downstream_gene_variant,,ENST00000515095,;ERAP2,3_prime_UTR_variant,,ENST00000513084,;ERAP2,non_coding_transcript_exon_variant,,ENST00000515387,;ERAP2,downstream_gene_variant,,ENST00000513368,;	uc003kmq.2	c.1968T>C	2679/5705	3	3			c.1968T>C						5	SNP	c.(1966-1968)CCT>CCC	53	53				0	Broad	endoplasmic reticulum aminopeptidase 2			96239220		0.418	ENSG00000164308	5119	g.chr5:96239220T>C	antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding							-36.403092	KEEP	1	4	-1	78	100	1	4	-1	6.432175	78	100	0.018293	1	0	0	0	0	0	0	1	0	--	--		0	C			uc003kmo.1_Intron|ERAP2_uc003kmt.2_Silent_p.P656P|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Silent_p.P605P|ERAP2_uc003kmu.2_RNA	215	GBM-28-5204-TP	p.P656P	T	TTCTCAGACCTAAGGACAGAG	NM_022350	NP_071745	96239220	Q6P179	ERAP2_HUMAN	0		COAD - Colon adenocarcinoma(37;0.0703)	13	2678	+	C	C		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)	Silent	656			Lumenal (Potential).			
ERBB2	2064	broad.mit.edu	GRCh37	17	37884124	37884124	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0877-01	TCGA-06-0877-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269571.5:c.3595C>A	p.Pro1199Thr	p.P1199T	ENST00000269571		1199	Ccc/Acc	0			1			A	P/T	uc002hso.2	protein_coding	YES	CCDS32642.1		1	3595/3768	A|Mis|O				breast|ovarian|other tumour types|NSCLC|gastric				lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	c.(3595-3597)CCC>ACC			Low_complexity_(Seg):seg,PIRSF_domain:PIRSF000619	erbB-2 isoform a	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)			ENSP00000269571		27/27	8.24E-06							6.06E-05	rs779469693,COSM2152173	27/27	.		ENST00000269571	Transcript	1		cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000141736	g.chr17:37884124C>A	3430			MODERATE		0.38	neutral	getma.org/?cm=msa&ty=f&p=ERBB2_HUMAN&rb=977&re=1231&var=P1199T	NA	getma.org/?cm=var&var=hg19,17,37884124,C,A&fts=all	P1199T	--	--	1				TCGA GBM(5;<1E-08)																														ERBB2_uc002hsm.2_Missense_Mutation_p.P1169T|ERBB2_uc010cwa.2_Missense_Mutation_p.P1184T|ERBB2_uc002hsp.2_Missense_Mutation_p.P1002T|ERBB2_uc010cwb.2_3'UTR|ERBB2_uc010wek.1_Missense_Mutation_p.P923T	0,1	1		possibly_damaging(0.847)	p.P1199T	NM_004448	NP_004439		tolerated(0.41)	0,1	ERBB2_HUMAN	ERBB2	HGNC	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Q9NP09_HUMAN,J3QLV2_HUMAN,J3KS21_HUMAN,F5H1T4_HUMAN		27	3833	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UPI000003F55F	1199			Cytoplasmic (Potential).		SNV	ERBB2,missense_variant,p.Pro1169Thr,ENST00000406381,NM_001005862.1;ERBB2,missense_variant,p.Pro1169Thr,ENST00000584601,;ERBB2,missense_variant,p.Pro1169Thr,ENST00000540147,NM_004448.2;ERBB2,missense_variant,p.Pro1199Thr,ENST00000269571,;ERBB2,missense_variant,p.Pro1184Thr,ENST00000541774,;ERBB2,missense_variant,p.Pro923Thr,ENST00000445658,;ERBB2,3_prime_UTR_variant,,ENST00000584450,;MIEN1,downstream_gene_variant,,ENST00000394231,;MIEN1,downstream_gene_variant,,ENST00000577810,NM_032339.3;ERBB2,downstream_gene_variant,,ENST00000580074,;ERBB2,downstream_gene_variant,,ENST00000582818,;MIR4728,downstream_gene_variant,,ENST00000580969,;MIEN1,downstream_gene_variant,,ENST00000474210,;ERBB2,upstream_gene_variant,,ENST00000584888,;ERBB2,3_prime_UTR_variant,,ENST00000578373,;ERBB2,downstream_gene_variant,,ENST00000583038,;MIEN1,downstream_gene_variant,,ENST00000582963,;MIEN1,downstream_gene_variant,,ENST00000498164,;ERBB2,downstream_gene_variant,,ENST00000578630,;MIEN1,downstream_gene_variant,,ENST00000469568,;	uc002hso.2	c.3595C>A	3754/4545	1	1		1	c.3595C>A	A|Mis|O				breast|ovarian|other tumour types|NSCLC|gastric	17	SNP	c.(3595-3597)CCC>ACC	50	50			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	Broad	erbB-2 isoform a		Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	37884124		0.622	ENSG00000141736	5121	g.chr17:37884124C>A	cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			271			271	144.924153	KEEP	22	30	0.576923077	42	75	22	30	0.576923077	148.602533	42	75	0.333333	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(5;<1E-08)	0	A			ERBB2_uc002hsm.2_Missense_Mutation_p.P1169T|ERBB2_uc010cwa.2_Missense_Mutation_p.P1184T|ERBB2_uc002hsp.2_Missense_Mutation_p.P1002T|ERBB2_uc010cwb.2_3'UTR|ERBB2_uc010wek.1_Missense_Mutation_p.P923T	73	GBM-06-0877-TP	p.P1199T	C	GTACTTGACACCCCAGGGAGG	NM_004448	NP_004439	37884124	P04626	ERBB2_HUMAN	0	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	27	3833	+	A	A	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	Missense_Mutation	1199			Cytoplasmic (Potential).			
ERBB2	0	broad.mit.edu	GRCh37	17	37866667	37866667	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269571.5:c.834G>A	p.Thr278=	p.T278=	ENST00000269571		278	acG/acA	0			1			A	T	uc002hso.2	protein_coding	YES	CCDS32642.1		1	834/3768	A|Mis|O				breast|ovarian|other tumour types|NSCLC|gastric				lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	c.(832-834)ACG>ACA			hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF137,Pfam_domain:PF00757,Gene3D:2.10.220.10,PIRSF_domain:PIRSF000619,Superfamily_domains:SSF57184	erbB-2 isoform a	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)			ENSP00000269571		27-Jul									COSM3402827	27-Jul	.		ENST00000269571	Transcript	1		cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	ENSG00000141736	g.chr17:37866667G>A	3430			LOW								--	--	1				TCGA GBM(5;<1E-08)																														ERBB2_uc002hsm.2_Silent_p.T248T|ERBB2_uc010cwa.2_Silent_p.T263T|ERBB2_uc002hsp.2_Silent_p.T81T|ERBB2_uc010cwb.2_Silent_p.T278T|ERBB2_uc010wek.1_Intron|ERBB2_uc002hsl.2_Silent_p.T248T|ERBB2_uc002hsn.1_Silent_p.T278T	1	1			p.T278T	NM_004448	NP_004439			1	ERBB2_HUMAN	ERBB2	HGNC	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Q9NP09_HUMAN,J3QLV2_HUMAN,J3KS21_HUMAN,F5H1T4_HUMAN		7	1072	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UPI000003F55F	278			Extracellular (Potential).		SNV	ERBB2,synonymous_variant,p.=,ENST00000406381,NM_001005862.1;ERBB2,synonymous_variant,p.=,ENST00000584601,;ERBB2,synonymous_variant,p.=,ENST00000540147,NM_004448.2;ERBB2,synonymous_variant,p.=,ENST00000269571,;ERBB2,synonymous_variant,p.=,ENST00000541774,;ERBB2,synonymous_variant,p.=,ENST00000584450,;ERBB2,synonymous_variant,p.=,ENST00000578199,;ERBB2,synonymous_variant,p.=,ENST00000540042,;ERBB2,synonymous_variant,p.=,ENST00000578502,;ERBB2,intron_variant,,ENST00000445658,;ERBB2,downstream_gene_variant,,ENST00000584099,;ERBB2,downstream_gene_variant,,ENST00000578709,;ERBB2,3_prime_UTR_variant,,ENST00000578373,;ERBB2,non_coding_transcript_exon_variant,,ENST00000583038,;ERBB2,non_coding_transcript_exon_variant,,ENST00000584908,;ERBB2,intron_variant,,ENST00000582788,;ERBB2,intron_variant,,ENST00000582648,;ERBB2,downstream_gene_variant,,ENST00000583391,;	uc002hso.2	c.834G>A	993/4545	2	2		1	c.834G>A	A|Mis|O				breast|ovarian|other tumour types|NSCLC|gastric	17	SNP	c.(832-834)ACG>ACA	20	20			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	Broad	erbB-2 isoform a		Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	37866667		0.582	ENSG00000141736	5121	g.chr17:37866667G>A	cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			271			271	203.356001	KEEP	36	31	-1	18	24	36	31	-1	205.006414	18	24	0.639175	1	0	0	0	0	0	0	1	0	--	--	TCGA GBM(5;<1E-08)	0	A			ERBB2_uc002hsm.2_Silent_p.T248T|ERBB2_uc010cwa.2_Silent_p.T263T|ERBB2_uc002hsp.2_Silent_p.T81T|ERBB2_uc010cwb.2_Silent_p.T278T|ERBB2_uc010wek.1_Intron|ERBB2_uc002hsl.2_Silent_p.T248T|ERBB2_uc002hsn.1_Silent_p.T278T	159	GBM-19-1390-TP	p.T278T	G	ACACAGACACGTTTGAGTCCA	NM_004448	NP_004439	37866667	P04626	ERBB2_HUMAN	0	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	7	1072	+	A	A	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	Silent	278			Extracellular (Potential).			
ERBB4	2066		GRCh37	2	212251866	212251866	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000342788.4:c.3193G>T	p.Val1065Leu	p.V1065L	ENST00000342788	NM_005235.2	1065	Gta/Tta	0																																																																																																																																																																																																																																												
ERC1	23085	broad.mit.edu	GRCh37	12	1291107	1291107	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs138512011	byFrequency	TCGA-06-1804-01	TCGA-06-1804-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397203.2:c.1892G>A	p.Arg631His	p.R631H	ENST00000397203		631	cGc/cAc	0	A:0		1			A	R/H	uc001qjb.2	protein_coding		CCDS8508.1			1892/3351									ovary(2)|lung(2)|breast(1)	5	c.(1891-1893)CGC>CAC			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF10174,hmmpanther:PTHR18861,hmmpanther:PTHR18861:SF1,Low_complexity_(Seg):seg	RAB6-interacting protein 2 isoform epsilon			A:0.0006	ENSP00000354158		19-Oct	8.24E-05					0.000107		0.000184	rs138512011,COSM2152498	19-Oct	.		ENST00000360905	Transcript	1		I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	ENSG00000082805	g.chr12:1291107G>A	17072			MODERATE		1.31	low	getma.org/?cm=msa&ty=f&p=RB6I2_HUMAN&rb=154&re=982&var=R631H	NA	getma.org/?cm=var&var=hg19,12,1291107,G,A&fts=all	R631H	--	--	1																																		ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.R603H|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Missense_Mutation_p.R631H|ERC1_uc010sdv.1_Missense_Mutation_p.R379H|ERC1_uc009zdp.2_Missense_Mutation_p.R271H	0,1			probably_damaging(0.987)	p.R631H	NM_178040	NP_829884		tolerated(0.08)	0,1	RB6I2_HUMAN	ERC1	HGNC	Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		K7EKH8_HUMAN,K7EIZ7_HUMAN		10	2133	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		UPI000007479C	631			Potential.		SNV	ERC1,missense_variant,p.Arg631His,ENST00000397203,;ERC1,missense_variant,p.Arg603His,ENST00000543086,NM_178039.2;ERC1,missense_variant,p.Arg631His,ENST00000589028,NM_178040.2;ERC1,missense_variant,p.Arg631His,ENST00000355446,;ERC1,missense_variant,p.Arg631His,ENST00000360905,;ERC1,missense_variant,p.Arg631His,ENST00000546231,;ERC1,non_coding_transcript_exon_variant,,ENST00000536573,;ERC1,missense_variant,p.Arg603His,ENST00000440394,;ERC1,missense_variant,p.Arg603His,ENST00000347735,;ERC1,missense_variant,p.Arg631His,ENST00000542302,;ERC1,missense_variant,p.Arg331His,ENST00000545948,;ERC1,non_coding_transcript_exon_variant,,ENST00000538971,;	uc001qjb.2	c.1892G>A	2073/5789	2	2			c.1892G>A						12	SNP	c.(1891-1893)CGC>CAC	47	47			ovary(2)|lung(2)|breast(1)	5	Broad	RAB6-interacting protein 2 isoform epsilon			1291107		0.378	ENSG00000082805	5125	g.chr12:1291107G>A	I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			378			378	30.613865	KEEP	6	5	-1	13	12	6	5	-1	31.553419	13	12	0.323529	1	0	0	0	0	1	0	0	0	--	--		0	A			ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.R603H|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Missense_Mutation_p.R631H|ERC1_uc010sdv.1_Missense_Mutation_p.R379H|ERC1_uc009zdp.2_Missense_Mutation_p.R271H	79	GBM-06-1804-TP	p.R631H	G	ACAATTGAACGCTTAAAGGAG	NM_178040	NP_829884	1291107	Q8IUD2	RB6I2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		10	2133	+	A	A	all_epithelial(11;0.0698)|Ovarian(42;0.107)		Missense_Mutation	631			Potential.			
ERC2	0	broad.mit.edu	GRCh37	3	56468977	56468977	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01	TCGA-12-0615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288221.6:c.59G>A	p.Arg20His	p.R20H	ENST00000288221	NM_015576.1	20	cGt/cAt	0	T:0.0003	T:0	1	T:0		T	R/H	uc003dhr.1	protein_coding	YES	CCDS46851.1			59/2874									ovary(2)	2	c.(58-60)CGT>CAT			hmmpanther:PTHR18861,hmmpanther:PTHR18861:SF3,Low_complexity_(Seg):seg	cytomatrix protein p110		T:0.001	T:0.0001	ENSP00000288221	T:0	18-Feb	0.000116	0.000102		0.000233		0.000165			rs200184138,COSM446891,COSM446892	18-Feb	.		ENST00000288221	Transcript		T:0.0002		cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	ENSG00000187672	g.chr3:56468977C>T	31922			MODERATE		1.65	low	getma.org/?cm=msa&ty=f&p=ERC2_HUMAN&rb=1&re=149&var=R20H	NA	getma.org/?cm=var&var=hg19,3,56468977,C,T&fts=all	R20H	--	--	1																																			0,1,1	1		probably_damaging(0.984)	p.R20H	NM_015576	NP_056391	T:0	tolerated(0.05)	0,1,1	ERC2_HUMAN	ERC2	HGNC	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)			2	315	-			UPI00001C1572	20					SNV	ERC2,missense_variant,p.Arg20His,ENST00000288221,NM_015576.1;ERC2,non_coding_transcript_exon_variant,,ENST00000472917,;ERC2,upstream_gene_variant,,ENST00000477381,;ERC2,missense_variant,p.Arg20His,ENST00000460849,;	uc003dhr.1	c.59G>A	315/6138	1	1			c.59G>A						3	SNP	c.(58-60)CGT>CAT	5	5			ovary(2)	2	Broad	cytomatrix protein p110			56468977		0.468	ENSG00000187672	5126	g.chr3:56468977C>T		cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding							81.404126	KEEP	20	15	-1	66	60	20	15	-1	91.84401	66	60	0.222973	1	0	0	0	0	1	0	0	0	--	--		0	T				117	GBM-12-0615-TP	p.R20H	C	CCTTGGCAAACGAGGGGATCT	NM_015576	NP_056391	56468977	O15083	ERC2_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	2	315	-	T	T			Missense_Mutation	20						
ERC2	0	broad.mit.edu	GRCh37	3	56468977	56468977	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01	TCGA-19-5950-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288221.6:c.59G>A	p.Arg20His	p.R20H	ENST00000288221	NM_015576.1	20	cGt/cAt	0	T:0.0003	T:0	1	T:0		T	R/H	uc003dhr.1	protein_coding	YES	CCDS46851.1			59/2874									ovary(2)	2	c.(58-60)CGT>CAT			hmmpanther:PTHR18861,hmmpanther:PTHR18861:SF3,Low_complexity_(Seg):seg	cytomatrix protein p110		T:0.001	T:0.0001	ENSP00000288221	T:0	18-Feb	0.000116	0.000102		0.000233		0.000165			rs200184138,COSM446891,COSM446892	18-Feb	.		ENST00000288221	Transcript		T:0.0002		cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	ENSG00000187672	g.chr3:56468977C>T	31922			MODERATE		1.65	low	getma.org/?cm=msa&ty=f&p=ERC2_HUMAN&rb=1&re=149&var=R20H	NA	getma.org/?cm=var&var=hg19,3,56468977,C,T&fts=all	R20H	--	--	1																																			0,1,1	1		probably_damaging(0.984)	p.R20H	NM_015576	NP_056391	T:0	tolerated(0.05)	0,1,1	ERC2_HUMAN	ERC2	HGNC	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)			2	315	-			UPI00001C1572	20					SNV	ERC2,missense_variant,p.Arg20His,ENST00000288221,NM_015576.1;ERC2,non_coding_transcript_exon_variant,,ENST00000472917,;ERC2,upstream_gene_variant,,ENST00000477381,;ERC2,missense_variant,p.Arg20His,ENST00000460849,;	uc003dhr.1	c.59G>A	315/6138	1	1			c.59G>A						3	SNP	c.(58-60)CGT>CAT	5	5			ovary(2)	2	Broad	cytomatrix protein p110			56468977		0.468	ENSG00000187672	5126	g.chr3:56468977C>T		cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding							68.313241	KEEP	8	15	-1	20	16	8	15	-1	68.85618	20	16	0.396552	1	0	0	0	0	1	0	0	0	--	--		0	T				170	GBM-19-5950-TP	p.R20H	C	CCTTGGCAAACGAGGGGATCT	NM_015576	NP_056391	56468977	O15083	ERC2_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	2	315	-	T	T			Missense_Mutation	20						
ERC2	0	broad.mit.edu	GRCh37	3	55733470	55733472	+	inframe_deletion	In_Frame_Del	DEL	TGG	TGG	-			TCGA-26-5135-01	TCGA-26-5135-01	TGG	TGG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288221.6:c.2781_2783delCCA	p.His932del	p.H932del	ENST00000288221	NM_015576.1	927	caCCAt/cat	0			1			-	HH/H	uc003dhr.1	protein_coding	YES	CCDS46851.1			2781-2783/2874									ovary(2)	2	c.(2779-2784)CACCAT>CAT			hmmpanther:PTHR18861,hmmpanther:PTHR18861:SF3,Low_complexity_(Seg):seg	cytomatrix protein p110				ENSP00000288221		16/18	3.30E-05					3.00E-05		0.000121	rs780977338,COSM1723976,COSM1723975	16/18	.		ENST00000288221	Transcript				cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	ENSG00000187672	g.chr3:55733470_55733472delTGG	31922			MODERATE								--	--	1																																		ERC2_uc003dhq.1_RNA	0,1,1	1			p.927_928HH>H	NM_015576	NP_056391			0,1,1	ERC2_HUMAN	ERC2	HGNC	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)			16	3037_3039	-			UPI00001C1572	927_928			Poly-His.		deletion	ERC2,inframe_deletion,p.His932del,ENST00000288221,NM_015576.1;ERC2,non_coding_transcript_exon_variant,,ENST00000468118,;ERC2,non_coding_transcript_exon_variant,,ENST00000487287,;ERC2,inframe_deletion,p.His932del,ENST00000460849,;	uc003dhr.1	c.2781_2783delCCA	3037-3039/6138	5	5			c.2781_2783delCCA						3	DEL	c.(2779-2784)CACCAT>CAT	2	2			ovary(2)	2	Broad	cytomatrix protein p110			55733472		0.389	ENSG00000187672	5126	g.chr3:55733470_55733472delTGG		cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding																				0.01	1	1	0	1	0	0	0	0	0	--	--		0	-			ERC2_uc003dhq.1_RNA	184	GBM-26-5135-TP	p.927_928HH>H	TGG	gtggtggtgatggtggtggtggt	NM_015576	NP_056391	55733470	O15083	ERC2_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	16	3037_3039	-	-	-			In_Frame_Del	927_928			Poly-His.			
ERCC1	2067	broad.mit.edu	GRCh37	19	45923654	45923654	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0214-01	TCGA-06-0214-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000013807.5:c.353A>G	p.Asn118Ser	p.N118S	ENST00000013807	NM_202001.2	118	aAt/aGt	0			1			C	N/S	uc002pbs.1	protein_coding		CCDS12662.1			353/894									ovary(2)	2	c.(352-354)AAT>AGT		NER	Superfamily_domains:SSF52980,Pfam_domain:PF03834,TIGRFAM_domain:TIGR00597,hmmpanther:PTHR12749:SF0,hmmpanther:PTHR12749	excision repair cross-complementing 1 isofrom 2				ENSP00000300853		10-Apr	1.65E-05		0.000181						rs749201799,COSM3404381,COSM3404382	10-Apr	.		ENST00000300853	Transcript	1		mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding	ENSG00000012061	g.chr19:45923654T>C	3433			MODERATE		0.94	low	getma.org/?cm=msa&ty=f&p=ERCC1_HUMAN&rb=99&re=166&var=N118S	getma.org/pdb.php?prot=ERCC1_HUMAN&from=99&to=166&var=N118S	getma.org/?cm=var&var=hg19,19,45923654,T,C&fts=all	N118S	--	--	1																																		ERCC1_uc002pbt.1_Missense_Mutation_p.N118S|ERCC1_uc002pbu.1_Missense_Mutation_p.N46S|ERCC1_uc002pbv.2_Missense_Mutation_p.N118S	0,1,1			benign(0.017)	p.N118S	NM_001983	NP_001974		tolerated(0.1)	0,1,1	ERCC1_HUMAN	ERCC1	HGNC	P07992	ERCC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0247)	Q8WWH8_HUMAN,K7ER89_HUMAN,K7EP14_HUMAN,K7EK97_HUMAN		4	499	-		Ovarian(192;0.051)|all_neural(266;0.112)	UPI000012A11A	118					SNV	ERCC1,missense_variant,p.Asn118Ser,ENST00000300853,NM_001983.3;ERCC1,missense_variant,p.Asn46Ser,ENST00000423698,;ERCC1,missense_variant,p.Asn118Ser,ENST00000589165,;ERCC1,missense_variant,p.Asn118Ser,ENST00000013807,NM_202001.2;ERCC1,missense_variant,p.Asn118Ser,ENST00000340192,NM_001166049.1;ERCC1,missense_variant,p.Asn118Ser,ENST00000592083,;ERCC1,missense_variant,p.Asn118Ser,ENST00000591636,;ERCC1,missense_variant,p.Asn118Ser,ENST00000592023,;ERCC1,missense_variant,p.Asn46Ser,ENST00000589381,;ERCC1,missense_variant,p.Asn118Ser,ENST00000589214,;ERCC1,upstream_gene_variant,,ENST00000592444,;ERCC1,upstream_gene_variant,,ENST00000590701,;ERCC1,non_coding_transcript_exon_variant,,ENST00000588300,;ERCC1,non_coding_transcript_exon_variant,,ENST00000592905,;ERCC1,upstream_gene_variant,,ENST00000587888,;	uc002pbs.1	c.353A>G	945/3828	3	3			c.353A>G						19	SNP	c.(352-354)AAT>AGT	2	2			ovary(2)	2	Broad	excision repair cross-complementing 1 isofrom 2	NER		45923654		0.562	ENSG00000012061	5127	g.chr19:45923654T>C	mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding							53.863613	KEEP	12	8	-1	10	23	12	8	-1	54.762211	10	23	0.354167	1	0	0	0	0	1	0	0	0	--	--		0	C			ERCC1_uc002pbt.1_Missense_Mutation_p.N118S|ERCC1_uc002pbu.1_Missense_Mutation_p.N46S|ERCC1_uc002pbv.2_Missense_Mutation_p.N118S	50	GBM-06-0214-TP	p.N118S	T	CCAGGGCACATTGCGCACGAA	NM_001983	NP_001974	45923654	P07992	ERCC1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.0247)	4	499	-	C	C		Ovarian(192;0.051)|all_neural(266;0.112)	Missense_Mutation	118						
ERCC4	2072	broad.mit.edu	GRCh37	16	14024621	14024621	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-5415-01	TCGA-06-5415-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311895.7:c.847T>A	p.Ser283Thr	p.S283T	ENST00000311895	NM_005236.2	283	Tcc/Acc	0			1			A	S/T	uc002dce.2	protein_coding	YES	CCDS32390.1			847/2751	Mis|N|F			skin basal cell|skin squamous cell|melanoma					lung(4)|ovary(3)|skin(2)|pancreas(1)	10	c.(847-849)TCC>ACC		Direct_reversal_of_damage|NER	hmmpanther:PTHR10150,TIGRFAM_domain:TIGR00596	excision repair cross-complementing rodent				ENSP00000310520		11-May									COSM2153253	11-May	.	Xeroderma_Pigmentosum	ENST00000311895	Transcript	1		double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	ENSG00000175595	g.chr16:14024621T>A	3436			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=XPF_HUMAN&rb=250&re=318&var=S283T	NA	getma.org/?cm=var&var=hg19,16,14024621,T,A&fts=all	S283T	--	--	1																																		ERCC4_uc010bva.2_Missense_Mutation_p.S283T	1	1		benign(0.392)	p.S283T	NM_005236	NP_005227		tolerated(0.49)	1	XPF_HUMAN	ERCC4	HGNC	Q92889	XPF_HUMAN			B4DXD8_HUMAN		5	856	+			UPI0000161BBF	283			Leucine-zipper 2.		SNV	ERCC4,missense_variant,p.Ser283Thr,ENST00000311895,NM_005236.2;ERCC4,missense_variant,p.Ser283Thr,ENST00000575156,;CTD-2135D7.2,non_coding_transcript_exon_variant,,ENST00000575137,;CTD-2135D7.2,non_coding_transcript_exon_variant,,ENST00000570663,;ERCC4,non_coding_transcript_exon_variant,,ENST00000574781,;ERCC4,3_prime_UTR_variant,,ENST00000574194,;ERCC4,upstream_gene_variant,,ENST00000389138,;ERCC4,downstream_gene_variant,,ENST00000576348,;ERCC4,upstream_gene_variant,,ENST00000573018,;	uc002dce.2	c.847T>A	856/6758	2	2			c.847T>A	Mis|N|F			skin basal cell|skin squamous cell|melanoma		16	SNP	c.(847-849)TCC>ACC	18	18			lung(4)|ovary(3)|skin(2)|pancreas(1)	10	Broad	excision repair cross-complementing rodent	Direct_reversal_of_damage|NER		14024621	Xeroderma_Pigmentosum	0.363	ENSG00000175595	5130	g.chr16:14024621T>A	double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			153			153	129.372014	KEEP	23	24	-1	33	23	23	24	-1	129.46041	33	23	0.465909	1	0	0	0	0	1	0	0	0	--	--		0	A			ERCC4_uc010bva.2_Missense_Mutation_p.S283T	98	GBM-06-5415-TP	p.S283T	T	CAAGACTAAATCCTTAGTTCA	NM_005236	NP_005227	14024621	Q92889	XPF_HUMAN	0			5	856	+	A	A			Missense_Mutation	283			Leucine-zipper 2.			
ERCC4	0	broad.mit.edu	GRCh37	16	14041971	14041971	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01	TCGA-06-6695-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311895.7:c.2518G>A	p.Glu840Lys	p.E840K	ENST00000311895	NM_005236.2	840	Gag/Aag	0			1			A	E/K	uc002dce.2	protein_coding	YES	CCDS32390.1			2518/2751	Mis|N|F			skin basal cell|skin squamous cell|melanoma					lung(4)|ovary(3)|skin(2)|pancreas(1)	10	c.(2518-2520)GAG>AAG		Direct_reversal_of_damage|NER	hmmpanther:PTHR10150,Superfamily_domains:SSF47781,TIGRFAM_domain:TIGR00596	excision repair cross-complementing rodent				ENSP00000310520		11-Nov	1.65E-05			0.000116				6.06E-05	rs776625719,COSM3402080	11-Nov	.	Xeroderma_Pigmentosum	ENST00000311895	Transcript	1		double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	ENSG00000175595	g.chr16:14041971G>A	3436			MODERATE		2.495	medium	getma.org/?cm=msa&ty=f&p=XPF_HUMAN&rb=764&re=916&var=E840K	getma.org/pdb.php?prot=XPF_HUMAN&from=764&to=916&var=E840K	getma.org/?cm=var&var=hg19,16,14041971,G,A&fts=all	E840K	--	--	1																																		ERCC4_uc010uyz.1_Missense_Mutation_p.E390K	0,1	1		benign(0.07)	p.E840K	NM_005236	NP_005227		tolerated(0.27)	0,1	XPF_HUMAN	ERCC4	HGNC	Q92889	XPF_HUMAN			B4DXD8_HUMAN		11	2527	+			UPI0000161BBF	840			Interaction with EME1 and ERCC1.		SNV	ERCC4,missense_variant,p.Glu840Lys,ENST00000311895,NM_005236.2;ERCC4,non_coding_transcript_exon_variant,,ENST00000389138,;ERCC4,downstream_gene_variant,,ENST00000462862,;	uc002dce.2	c.2518G>A	2527/6758	2	2			c.2518G>A	Mis|N|F			skin basal cell|skin squamous cell|melanoma		16	SNP	c.(2518-2520)GAG>AAG	26	26			lung(4)|ovary(3)|skin(2)|pancreas(1)	10	Broad	excision repair cross-complementing rodent	Direct_reversal_of_damage|NER		14041971	Xeroderma_Pigmentosum	0.498	ENSG00000175595	5130	g.chr16:14041971G>A	double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			153			153	62.67463	KEEP	14	9	-1	10	13	14	9	-1	62.679927	10	13	0.512195	1	0	0	0	0	1	0	0	0	--	--		0	A			ERCC4_uc010uyz.1_Missense_Mutation_p.E390K	110	GBM-06-6695-TP	p.E840K	G	AACCCTTCCCGAGTCAGAGAA	NM_005236	NP_005227	14041971	Q92889	XPF_HUMAN	0			11	2527	+	A	A			Missense_Mutation	840			Interaction with EME1 and ERCC1.			
ERCC4	2072		GRCh37	16	14029049	14029049	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000311895.7:c.1260G>A	p.Leu420=	p.L420=	ENST00000311895	NM_005236.2	420	ctG/ctA	0																																																																																																																																																																																																																																												
ERCC5	0	broad.mit.edu	GRCh37	13	103520596	103520596	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-2514-01	TCGA-28-2514-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355739.4:c.2667C>T	p.Leu889=	p.L889=	ENST00000355739	NM_000123.3	889	ctC/ctT	0			1			T	L	uc001vpw.2	protein_coding	YES	CCDS32004.1			2667/3561	Mis|N|F			skin basal cell|skin squamous cell|melanoma					ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	c.(2665-2667)CTC>CTT		Direct_reversal_of_damage|NER	Gene3D:1.10.150.20,Prints_domain:PR00066,hmmpanther:PTHR16171,TIGRFAM_domain:TIGR00600	XPG-complementing protein				ENSP00000347978		15-Dec									COSM3399226	15-Dec	.	Xeroderma_Pigmentosum	ENST00000355739	Transcript	1		negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding	ENSG00000134899	g.chr13:103520596C>T	3437			LOW								--	--	1																																		ERCC5_uc001vpu.1_Silent_p.L1343L|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Silent_p.L721L	1	1			p.L889L	NM_000123	NP_000114			1	ERCC5_HUMAN	ERCC5	HGNC	P28715	ERCC5_HUMAN					12	3110	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		UPI000006D0C3	889					SNV	ERCC5,synonymous_variant,p.=,ENST00000355739,NM_000123.3;BIVM-ERCC5,synonymous_variant,p.=,ENST00000602836,NM_001204425.1;ERCC5,synonymous_variant,p.=,ENST00000375954,;ERCC5,non_coding_transcript_exon_variant,,ENST00000481099,;	uc001vpw.2	c.2667C>T	4090/5076	1	1			c.2667C>T	Mis|N|F			skin basal cell|skin squamous cell|melanoma		13	SNP	c.(2665-2667)CTC>CTT	13	13			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	Broad	XPG-complementing protein	Direct_reversal_of_damage|NER		103520596	Xeroderma_Pigmentosum	0.373	ENSG00000134899	5131	g.chr13:103520596C>T	negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			463			463	142.734157	KEEP	26	27	-1	40	61	26	27	-1	145.072358	40	61	0.360294	1	0	0	0	0	0	0	1	0	--	--		0	T			ERCC5_uc001vpu.1_Silent_p.L1343L|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Silent_p.L721L	214	GBM-28-2514-TP	p.L889L	C	TGGAACCTCTCCTAAAATTCT	NM_000123	NP_000114	103520596	P28715	ERCC5_HUMAN	0			12	3110	+	T	T	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		Silent	889						
ERCC5	0	broad.mit.edu	GRCh37	13	103514821	103514821	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs112825485		TCGA-32-4210-01	TCGA-32-4210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355739.4:c.1322C>T	p.Pro441Leu	p.P441L	ENST00000355739	NM_000123.3	441	cCg/cTg	0			1			T	P/L	uc001vpw.2	protein_coding	YES	CCDS32004.1			1322/3561	Mis|N|F			skin basal cell|skin squamous cell|melanoma					ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	c.(1321-1323)CCG>CTG		Direct_reversal_of_damage|NER	hmmpanther:PTHR16171,TIGRFAM_domain:TIGR00600	XPG-complementing protein				ENSP00000347978		15-Aug	1.65E-05	9.65E-05	8.64E-05						rs112825485,COSM1365335	15-Aug	.	Xeroderma_Pigmentosum	ENST00000355739	Transcript	1		negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding	ENSG00000134899	g.chr13:103514821C>T	3437			MODERATE		-0.46	neutral	getma.org/?cm=msa&ty=f&p=ERCC5_HUMAN&rb=253&re=754&var=P441L	NA	getma.org/?cm=var&var=hg19,13,103514821,C,T&fts=all	P441L	--	--	1																																		ERCC5_uc001vpu.1_Missense_Mutation_p.P895L|ERCC5_uc010tjb.1_Missense_Mutation_p.P441L|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.P273L	0,1	1		benign(0.001)	p.P441L	NM_000123	NP_000114		tolerated(0.24)	0,1	ERCC5_HUMAN	ERCC5	HGNC	P28715	ERCC5_HUMAN					8	1765	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		UPI000006D0C3	441					SNV	ERCC5,missense_variant,p.Pro441Leu,ENST00000355739,NM_000123.3;BIVM-ERCC5,missense_variant,p.Pro867Leu,ENST00000602836,NM_001204425.1;ERCC5,upstream_gene_variant,,ENST00000375954,;ERCC5,downstream_gene_variant,,ENST00000535557,;ERCC5,upstream_gene_variant,,ENST00000481099,;	uc001vpw.2	c.1322C>T	2745/5076	1	1			c.1322C>T	Mis|N|F			skin basal cell|skin squamous cell|melanoma		13	SNP	c.(1321-1323)CCG>CTG	9	9			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	Broad	XPG-complementing protein	Direct_reversal_of_damage|NER		103514821	Xeroderma_Pigmentosum	0.493	ENSG00000134899	5131	g.chr13:103514821C>T	negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			463			463	-7.617484	KEEP	0	3	-1	24	47	0	3	-1	6.380284	24	47	0.046875	1	0	0	0	0	1	0	0	0	--	--		0	T			ERCC5_uc001vpu.1_Missense_Mutation_p.P895L|ERCC5_uc010tjb.1_Missense_Mutation_p.P441L|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.P273L	245	GBM-32-4210-TP	p.P441L	C	AAAGGAATACCGTTTACTGCA	NM_000123	NP_000114	103514821	P28715	ERCC5_HUMAN	0			8	1765	+	T	T	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		Missense_Mutation	441						
ERCC6	0	broad.mit.edu	GRCh37	10	50690803	50690803	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-26-5134-01	TCGA-26-5134-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355832.5:c.2099T>C	p.Leu700Ser	p.L700S	ENST00000355832	NM_000124.3	700	tTg/tCg	0			1			G	L/S	uc001jhs.3	protein_coding	YES	CCDS7229.1			2099/4482									lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16	c.(2098-2100)TTG>TCG		Direct_reversal_of_damage|NER	hmmpanther:PTHR10799:SF49,hmmpanther:PTHR10799,Pfam_domain:PF00176,SMART_domains:SM00487,Superfamily_domains:SSF52540	excision repair cross-complementing rodent				ENSP00000348089		21-Oct									COSM3397154	21-Oct	.		ENST00000355832	Transcript	1		base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	ENSG00000225830	g.chr10:50690803A>G	3438			MODERATE		1.96	medium	getma.org/?cm=msa&ty=f&p=ERCC6_HUMAN&rb=510&re=812&var=L700S	getma.org/pdb.php?prot=ERCC6_HUMAN&from=510&to=812&var=L700S	getma.org/?cm=var&var=hg19,10,50690803,A,G&fts=all	L700S	--	--	1																																		ERCC6_uc010qgr.1_Missense_Mutation_p.L70S|ERCC6_uc001jhr.3_Missense_Mutation_p.L100S	1	1		possibly_damaging(0.897)	p.L700S	NM_000124	NP_000115		deleterious(0.03)	1	ERCC6_HUMAN	ERCC6	HGNC	Q03468	ERCC6_HUMAN			F5H493_HUMAN,D6R9X7_HUMAN		10	2253	-			UPI000000D8DA	700					SNV	ERCC6,missense_variant,p.Leu700Ser,ENST00000355832,NM_000124.3;ERCC6,missense_variant,p.Leu70Ser,ENST00000542458,;ERCC6,downstream_gene_variant,,ENST00000475116,;	uc001jhs.3	c.2099T>C	2178/8008	3	3			c.2099T>C						10	SNP	c.(2098-2100)TTG>TCG	64	64			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16	Broad	excision repair cross-complementing rodent	Direct_reversal_of_damage|NER		50690803		0.483	ENSG00000225830	5132	g.chr10:50690803A>G	base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			738			738	-15.644837	KEEP	3	0	-1	49	48	3	0	-1	7.435772	49	48	0.03125	1	0	0	0	0	1	0	0	0	--	--		0	G			ERCC6_uc010qgr.1_Missense_Mutation_p.L70S|ERCC6_uc001jhr.3_Missense_Mutation_p.L100S	183	GBM-26-5134-TP	p.L700S	A	AAACACAGGCAACGTGCCTAA	NM_000124	NP_000115	50690803	Q03468	ERCC6_HUMAN	0			10	2253	-	G	G			Missense_Mutation	700						
ERCC6	0	broad.mit.edu	GRCh37	10	50690763	50690763	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4208-01	TCGA-32-4208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355832.5:c.2139G>A	p.Met713Ile	p.M713I	ENST00000355832	NM_000124.3	713	atG/atA	0			1			T	M/I	uc001jhs.3	protein_coding	YES	CCDS7229.1			2139/4482									lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16	c.(2137-2139)ATG>ATA		Direct_reversal_of_damage|NER	hmmpanther:PTHR10799:SF49,hmmpanther:PTHR10799,Pfam_domain:PF00176,Superfamily_domains:SSF52540	excision repair cross-complementing rodent				ENSP00000348089		21-Oct									COSM3397153	21-Oct	.		ENST00000355832	Transcript	1		base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	ENSG00000225830	g.chr10:50690763C>T	3438			MODERATE		-0.14	neutral	getma.org/?cm=msa&ty=f&p=ERCC6_HUMAN&rb=510&re=812&var=M713I	getma.org/pdb.php?prot=ERCC6_HUMAN&from=510&to=812&var=M713I	getma.org/?cm=var&var=hg19,10,50690763,C,T&fts=all	M713I	--	--	1																																		ERCC6_uc010qgr.1_Missense_Mutation_p.M83I|ERCC6_uc001jhr.3_Missense_Mutation_p.M113I	1	1		benign(0.229)	p.M713I	NM_000124	NP_000115		deleterious(0.04)	1	ERCC6_HUMAN	ERCC6	HGNC	Q03468	ERCC6_HUMAN			F5H493_HUMAN,D6R9X7_HUMAN		10	2293	-			UPI000000D8DA	713					SNV	ERCC6,missense_variant,p.Met713Ile,ENST00000355832,NM_000124.3;ERCC6,missense_variant,p.Met83Ile,ENST00000542458,;ERCC6,downstream_gene_variant,,ENST00000475116,;	uc001jhs.3	c.2139G>A	2218/8008	2	2			c.2139G>A						10	SNP	c.(2137-2139)ATG>ATA	47	47			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16	Broad	excision repair cross-complementing rodent	Direct_reversal_of_damage|NER		50690763		0.408	ENSG00000225830	5132	g.chr10:50690763C>T	base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			738			738	-21.879587	KEEP	2	1	-1	64	61	2	1	-1	6.987564	64	61	0.025862	1	0	0	0	0	1	0	0	0	--	--		0	T			ERCC6_uc010qgr.1_Missense_Mutation_p.M83I|ERCC6_uc001jhr.3_Missense_Mutation_p.M113I	243	GBM-32-4208-TP	p.M713I	C	AATATCCCCCCATGGTGATGG	NM_000124	NP_000115	50690763	Q03468	ERCC6_HUMAN	0			10	2293	-	T	T			Missense_Mutation	713						
ERCC6L	54821	broad.mit.edu	GRCh37	X	71424939	71424939	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-02-0055-01	TCGA-02-0055-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334463.3:c.3678G>A	p.Ala1226=	p.A1226=	ENST00000334463	NM_017669.2	1226	gcG/gcA	0			1			T	A	uc004eaq.1	protein_coding	YES	CCDS35329.1			3678/3753									ovary(3)	3	c.(3676-3678)GCG>GCA			PROSITE_profiles:PS50293,Gene3D:1.25.40.10	excision repair protein ERCC6-like				ENSP00000334675		2-Feb									COSM2149025	2-Feb	.		ENST00000334463	Transcript			cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	ENSG00000186871	g.chrX:71424939C>T	20794			LOW								--	--	1																																		PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Silent_p.A1103A	1	1			p.A1226A	NM_017669	NP_060139			1	ERC6L_HUMAN	ERCC6L	HGNC	Q2NKX8	ERC6L_HUMAN			B5MDQ0_HUMAN		2	3775	-	Renal(35;0.156)		UPI000021233E	1226			TPR 2.		SNV	ERCC6L,synonymous_variant,p.=,ENST00000373657,;ERCC6L,synonymous_variant,p.=,ENST00000334463,NM_017669.2;PIN4,intron_variant,,ENST00000423432,NM_001170747.1;PIN4,intron_variant,,ENST00000496835,;PIN4,intron_variant,,ENST00000439980,;	uc004eaq.1	c.3678G>A	3814/4243	2	2			c.3678G>A						23	SNP	c.(3676-3678)GCG>GCA	47	47			ovary(3)	3	Broad	excision repair protein ERCC6-like			71424939		0.363	ENSG00000186871	5133	g.chrX:71424939C>T	cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding							101.463854	KEEP	24	18	-1	58	60	24	18	-1	108.777709	58	60	0.265306	1	0	0	0	0	0	0	1	0	--	--		0	T			PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Silent_p.A1103A	4	GBM-02-0055-TP	p.A1226A	C	TTATGTCAAGCGCTTTAACTA	NM_017669	NP_060139	71424939	Q2NKX8	ERC6L_HUMAN	0			2	3775	-	T	T	Renal(35;0.156)		Silent	1226			TPR 2.			
ERCC6L	0	broad.mit.edu	GRCh37	X	71428507	71428507	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-19-4068-01	TCGA-19-4068-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334463.3:c.110T>A	p.Leu37Gln	p.L37Q	ENST00000334463	NM_017669.2	37	cTg/cAg	0			1			T	L/Q	uc004eaq.1	protein_coding	YES	CCDS35329.1			110/3753									ovary(3)	3	c.(109-111)CTG>CAG			PROSITE_profiles:PS50293,hmmpanther:PTHR10799:SF67,hmmpanther:PTHR10799,Gene3D:1.25.40.10	excision repair protein ERCC6-like				ENSP00000334675		2-Feb									COSM2156458	2-Feb	.		ENST00000334463	Transcript			cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	ENSG00000186871	g.chrX:71428507A>T	20794			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=ERC6L_HUMAN&rb=1&re=67&var=L37Q	NA	getma.org/?cm=var&var=hg19,X,71428507,A,T&fts=all	L37Q	--	--	1																																		PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_5'UTR	1	1		probably_damaging(0.971)	p.L37Q	NM_017669	NP_060139		deleterious(0)	1	ERC6L_HUMAN	ERCC6L	HGNC	Q2NKX8	ERC6L_HUMAN			B5MDQ0_HUMAN		2	207	-	Renal(35;0.156)		UPI000021233E	37			TPR 1.		SNV	ERCC6L,missense_variant,p.Leu37Gln,ENST00000334463,NM_017669.2;ERCC6L,5_prime_UTR_variant,,ENST00000373657,;PIN4,intron_variant,,ENST00000423432,NM_001170747.1;PIN4,intron_variant,,ENST00000496835,;PIN4,intron_variant,,ENST00000439980,;	uc004eaq.1	c.110T>A	246/4243	2	2			c.110T>A						23	SNP	c.(109-111)CTG>CAG	48	48			ovary(3)	3	Broad	excision repair protein ERCC6-like			71428507		0.363	ENSG00000186871	5133	g.chrX:71428507A>T	cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding							81.40313	KEEP	14	18	-1	30	56	14	18	-1	85.732043	30	56	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	T			PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_5'UTR	168	GBM-19-4068-TP	p.L37Q	A	TGCTTCTTCCAGGTCTCCATT	NM_017669	NP_060139	71428507	Q2NKX8	ERC6L_HUMAN	0			2	207	-	T	T	Renal(35;0.156)		Missense_Mutation	37			TPR 1.			
ERCC6L2	375748	broad.mit.edu	GRCh37	9	98669532	98669532	+	stop_gained	Nonsense_Mutation	SNP	T	T	G			TCGA-06-2564-01	TCGA-06-2564-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288985.7:c.800T>G	p.Leu267Ter	p.L267*	ENST00000288985	NM_001010895.2	267	tTa/tGa	0			1			G	L/*	uc004avt.3	protein_coding	YES	CCDS35072.1			800/2139										0	c.(799-801)TTA>TGA			PROSITE_profiles:PS51192,hmmpanther:PTHR10799:SF65,hmmpanther:PTHR10799,Gene3D:3.40.50.300,Pfam_domain:PF00176,SMART_domains:SM00487,Superfamily_domains:SSF52540	RAD26L hypothetical protein				ENSP00000288985		14-Apr									COSM2152941	14-Apr	.		ENST00000288985	Transcript	1		DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	ENSG00000182150	g.chr9:98669532T>G	26922			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,9,98669532,T,G&fts=all	L267*	--	--	1																																		C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Intron|C9orf102_uc010mry.1_Intron|C9orf102_uc010mrz.2_Nonsense_Mutation_p.L78*	1	1			p.L267*	NM_001010895	NP_001010895			1	RAD26_HUMAN	ERCC6L2	HGNC	Q5T890	RAD26_HUMAN					4	1188	+		Acute lymphoblastic leukemia(62;0.0559)	UPI000046FE3C	267			Helicase ATP-binding.		SNV	ERCC6L2,stop_gained,p.Leu267Ter,ENST00000288985,NM_001010895.2;ERCC6L2,stop_gained,p.Leu78Ter,ENST00000437817,;RNA5SP289,downstream_gene_variant,,ENST00000362332,;ERCC6L2,non_coding_transcript_exon_variant,,ENST00000466840,;	uc004avt.3	c.800T>G	1105/4564	5	4			c.800T>G						9	SNP	c.(799-801)TTA>TGA	21	21				0	Broad	RAD26L hypothetical protein			98669532		0.303	ENSG00000182150	2397	g.chr9:98669532T>G	DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding							136.101696	KEEP	17	25	-1	26	50	17	25	-1	137.932862	26	50	0.361111	1	0	0	0	0	0	1	0	0	--	--		0	G			C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Intron|C9orf102_uc010mry.1_Intron|C9orf102_uc010mrz.2_Nonsense_Mutation_p.L78*	87	GBM-06-2564-TP	p.L267*	T	ACACTACGCTTATGCCTGGAT	NM_001010895	NP_001010895	98669532	Q5T890	RAD26_HUMAN	0			4	1188	+	G	G		Acute lymphoblastic leukemia(62;0.0559)	Nonsense_Mutation	267			Helicase ATP-binding.			
ERCC6L2	0	broad.mit.edu	GRCh37	9	98683552	98683552	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-12-3653-01	TCGA-12-3653-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288985.7:c.1287T>G	p.Pro429=	p.P429=	ENST00000288985	NM_001010895.2	429	ccT/ccG	0			1			G	P	uc004avt.3	protein_coding	YES	CCDS35072.1			1287/2139										0	c.(1285-1287)CCT>CCG			hmmpanther:PTHR10799:SF65,hmmpanther:PTHR10799,Pfam_domain:PF00176,Superfamily_domains:SSF52540	RAD26L hypothetical protein				ENSP00000288985		14-Jul									COSM3413856	14-Jul	.		ENST00000288985	Transcript	1		DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	ENSG00000182150	g.chr9:98683552T>G	26922			LOW								--	--	1																																		C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Silent_p.P131P|C9orf102_uc010mry.1_Silent_p.P131P|C9orf102_uc010mrz.2_Silent_p.P240P|C9orf102_uc004avu.2_5'Flank	1	1			p.P429P	NM_001010895	NP_001010895			1	RAD26_HUMAN	ERCC6L2	HGNC	Q5T890	RAD26_HUMAN					7	1675	+		Acute lymphoblastic leukemia(62;0.0559)	UPI000046FE3C	429					SNV	ERCC6L2,synonymous_variant,p.=,ENST00000288985,NM_001010895.2;ERCC6L2,synonymous_variant,p.=,ENST00000437817,;ERCC6L2,upstream_gene_variant,,ENST00000426805,;ERCC6L2,non_coding_transcript_exon_variant,,ENST00000466840,;ERCC6L2,synonymous_variant,p.=,ENST00000456993,;ERCC6L2,upstream_gene_variant,,ENST00000479391,;RP11-72B4.2,downstream_gene_variant,,ENST00000446226,;	uc004avt.3	c.1287T>G	1592/4564	3	3			c.1287T>G						9	SNP	c.(1285-1287)CCT>CCG	57	57				0	Broad	RAD26L hypothetical protein			98683552		0.363	ENSG00000182150	2397	g.chr9:98683552T>G	DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding							-10.645862	KEEP	1	2	-1	35	48	1	2	-1	7.310799	35	48	0.038462	1	0	0	0	0	0	0	1	0	--	--		0	G			C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Silent_p.P131P|C9orf102_uc010mry.1_Silent_p.P131P|C9orf102_uc010mrz.2_Silent_p.P240P|C9orf102_uc004avu.2_5'Flank	128	GBM-12-3653-TP	p.P429P	T	CTTCTGAGCCTTGTACCTGTA	NM_001010895	NP_001010895	98683552	Q5T890	RAD26_HUMAN	0			7	1675	+	G	G		Acute lymphoblastic leukemia(62;0.0559)	Silent	429						
ERCC6L2	0	broad.mit.edu	GRCh37	9	98728904	98728904	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-32-1991-01	TCGA-32-1991-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288985.7:c.2041G>T	p.Gly681Ter	p.G681*	ENST00000288985	NM_001010895.2	681	Gga/Tga	0			1			T	G/*	uc004avt.3	protein_coding	YES	CCDS35072.1			2041/2139										0	c.(2041-2043)GGA>TGA			hmmpanther:PTHR10799:SF65,hmmpanther:PTHR10799,Superfamily_domains:SSF52540	RAD26L hypothetical protein				ENSP00000288985		14/14									COSM3413857	14/14	.		ENST00000288985	Transcript	1		DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	ENSG00000182150	g.chr9:98728904G>T	26922			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,9,98728904,G,T&fts=all	G681*	--	--	1																																		C9orf102_uc011lum.1_Nonsense_Mutation_p.G383*|C9orf102_uc010mry.1_Nonsense_Mutation_p.G383*|C9orf102_uc010mrz.2_Nonsense_Mutation_p.G492*|C9orf102_uc004avu.2_Translation_Start_Site	1	1			p.G681*	NM_001010895	NP_001010895			1	RAD26_HUMAN	ERCC6L2	HGNC	Q5T890	RAD26_HUMAN					14	2429	+		Acute lymphoblastic leukemia(62;0.0559)	UPI000046FE3C	681					SNV	ERCC6L2,stop_gained,p.Gly681Ter,ENST00000288985,NM_001010895.2;ERCC6L2,stop_gained,p.Gly492Ter,ENST00000437817,;ERCC6L2,upstream_gene_variant,,ENST00000402838,;ERCC6L2,non_coding_transcript_exon_variant,,ENST00000466840,;ERCC6L2,non_coding_transcript_exon_variant,,ENST00000470362,;ERCC6L2,3_prime_UTR_variant,,ENST00000479391,;ERCC6L2,3_prime_UTR_variant,,ENST00000456993,;	uc004avt.3	c.2041G>T	2346/4564	5	2			c.2041G>T						9	SNP	c.(2041-2043)GGA>TGA	48	48				0	Broad	RAD26L hypothetical protein			98728904		0.408	ENSG00000182150	2397	g.chr9:98728904G>T	DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding							244.054608	KEEP	45	53	0.459183673	69	89	45	53	0.459183673	247.619881	69	89	0.366812	1	0	0	0	0	0	1	0	0	--	--		0	T			C9orf102_uc011lum.1_Nonsense_Mutation_p.G383*|C9orf102_uc010mry.1_Nonsense_Mutation_p.G383*|C9orf102_uc010mrz.2_Nonsense_Mutation_p.G492*|C9orf102_uc004avu.2_Translation_Start_Site	234	GBM-32-1991-TP	p.G681*	G	AGCAGTTCAAGGATCTAAAGA	NM_001010895	NP_001010895	98728904	Q5T890	RAD26_HUMAN	0			14	2429	+	T	T		Acute lymphoblastic leukemia(62;0.0559)	Nonsense_Mutation	681						
ERG	0	broad.mit.edu	GRCh37	21	39795376	39795376	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01	TCGA-19-5954-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398919.2:c.365C>T	p.Pro122Leu	p.P122L	ENST00000398919	NM_001243428.1	122	cCc/cTc	0			1			A	P/L	uc010gnw.2	protein_coding		CCDS46648.1			365/1461							TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)		prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828	c.(364-366)CCC>CTC			Superfamily_domains:SSF47769,SMART_domains:SM00251,hmmpanther:PTHR11849:SF161,hmmpanther:PTHR11849,PROSITE_profiles:PS51433	ets-related isoform 4				ENSP00000381891		12-May									COSM2156749	12-May	.		ENST00000398919	Transcript	1		cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	ENSG00000157554	g.chr21:39795376G>A	3446			MODERATE		2.625	medium	getma.org/?cm=msa&ty=f&p=ERG_HUMAN&rb=122&re=206&var=P122L	getma.org/pdb.php?prot=ERG_HUMAN&from=122&to=206&var=P122L	getma.org/?cm=var&var=hg19,21,39795376,G,A&fts=all	P122L	--	--	1																																		ERG_uc002yxa.2_Missense_Mutation_p.P115L|ERG_uc011aek.1_Missense_Mutation_p.P23L|ERG_uc010gnv.2_Missense_Mutation_p.P23L|ERG_uc010gnx.2_Missense_Mutation_p.P122L|ERG_uc011ael.1_Missense_Mutation_p.P122L|ERG_uc002yxb.2_Missense_Mutation_p.P122L|ERG_uc011aem.1_Missense_Mutation_p.P115L|ERG_uc002yxc.3_Missense_Mutation_p.P122L	1			probably_damaging(0.967)	p.P122L	NM_001136155	NP_001129627		deleterious(0)	1	ERG_HUMAN	ERG	HGNC	P11308	ERG_HUMAN			Q16031_HUMAN,B4DVX5_HUMAN		5	660	-		Prostate(19;3.6e-06)	UPI000018681C	122			PNT.		SNV	ERG,missense_variant,p.Pro122Leu,ENST00000442448,NM_004449.4;ERG,missense_variant,p.Pro122Leu,ENST00000417133,NM_001136154.1,NM_001243432.1;ERG,missense_variant,p.Pro122Leu,ENST00000398910,;ERG,missense_variant,p.Pro115Leu,ENST00000288319,NM_182918.3;ERG,missense_variant,p.Pro122Leu,ENST00000398911,;ERG,missense_variant,p.Pro115Leu,ENST00000398907,;ERG,missense_variant,p.Pro115Leu,ENST00000398905,;ERG,missense_variant,p.Pro23Leu,ENST00000398897,NM_001243429.1;ERG,missense_variant,p.Pro122Leu,ENST00000398919,NM_001243428.1;ERG,missense_variant,p.Pro23Leu,ENST00000453032,NM_001136155.1;ERG,missense_variant,p.Pro115Leu,ENST00000429727,;ERG,non_coding_transcript_exon_variant,,ENST00000481609,;ERG,non_coding_transcript_exon_variant,,ENST00000492833,;ERG,non_coding_transcript_exon_variant,,ENST00000473107,;ERG,non_coding_transcript_exon_variant,,ENST00000468474,;	uc010gnw.2	c.365C>T	660/1868	1	1			c.365C>T						21	SNP	c.(364-366)CCC>CTC	62	62	TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)		prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828	Broad	ets-related isoform 4			39795376		0.592	ENSG00000157554	5137	g.chr21:39795376G>A	cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	Esophageal Squamous(130;336 1700 3010 3083 40589)		177	Esophageal Squamous(130;336 1700 3010 3083 40589)		177	78.585958	KEEP	12	16	-1	15	22	12	16	-1	78.87988	15	22	0.423729	1	0	0	0	0	1	0	0	0	--	--		0	A			ERG_uc002yxa.2_Missense_Mutation_p.P115L|ERG_uc011aek.1_Missense_Mutation_p.P23L|ERG_uc010gnv.2_Missense_Mutation_p.P23L|ERG_uc010gnx.2_Missense_Mutation_p.P122L|ERG_uc011ael.1_Missense_Mutation_p.P122L|ERG_uc002yxb.2_Missense_Mutation_p.P122L|ERG_uc011aem.1_Missense_Mutation_p.P115L|ERG_uc002yxc.3_Missense_Mutation_p.P122L	174	GBM-19-5954-TP	p.P122L	G	CATGTTTGGGGGTGGCATGTG	NM_001136155	NP_001129627	39795376	P11308	ERG_HUMAN	0			5	660	-	A	A		Prostate(19;3.6e-06)	Missense_Mutation	122			PNT.			
ERG	0	broad.mit.edu	GRCh37	21	39764312	39764312	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01	TCGA-28-2509-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398919.2:c.821C>T	p.Thr274Met	p.T274M	ENST00000398919	NM_001243428.1	274	aCg/aTg	0			1			A	T/M	uc010gnw.2	protein_coding		CCDS46648.1			821/1461							TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)		prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828	c.(820-822)ACG>ATG			hmmpanther:PTHR11849:SF161,hmmpanther:PTHR11849	ets-related isoform 4				ENSP00000381891		12-Sep	8.46E-06								rs751217612,COSM1030636	12-Sep	.		ENST00000398919	Transcript	1		cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	ENSG00000157554	g.chr21:39764312G>A	3446			MODERATE		0.145	neutral	getma.org/?cm=msa&ty=f&p=ERG_HUMAN&rb=207&re=316&var=T274M	NA	getma.org/?cm=var&var=hg19,21,39764312,G,A&fts=all	T274M	--	--	1																																		ERG_uc002yxa.2_Missense_Mutation_p.T267M|ERG_uc011aek.1_Missense_Mutation_p.T175M|ERG_uc010gnv.2_Missense_Mutation_p.T151M|ERG_uc010gnx.2_Missense_Mutation_p.T250M|ERG_uc011ael.1_Missense_Mutation_p.T274M|ERG_uc002yxb.2_Missense_Mutation_p.T250M|ERG_uc011aem.1_Missense_Mutation_p.T148M|ERG_uc010gny.1_RNA	0,1			benign(0.004)	p.T274M	NM_001136155	NP_001129627		tolerated(0.19)	0,1	ERG_HUMAN	ERG	HGNC	P11308	ERG_HUMAN			Q16031_HUMAN,B4DVX5_HUMAN		9	1116	-		Prostate(19;3.6e-06)	UPI000018681C	274					SNV	ERG,missense_variant,p.Thr250Met,ENST00000442448,NM_004449.4;ERG,missense_variant,p.Thr274Met,ENST00000417133,NM_001136154.1,NM_001243432.1;ERG,missense_variant,p.Thr267Met,ENST00000288319,NM_182918.3;ERG,missense_variant,p.Thr250Met,ENST00000398911,;ERG,missense_variant,p.Thr243Met,ENST00000398905,;ERG,missense_variant,p.Thr151Met,ENST00000398897,NM_001243429.1;ERG,missense_variant,p.Thr274Met,ENST00000398919,NM_001243428.1;ERG,missense_variant,p.Thr175Met,ENST00000453032,NM_001136155.1;ERG,missense_variant,p.Thr148Met,ENST00000429727,;ERG,intron_variant,,ENST00000398910,;ERG,intron_variant,,ENST00000398907,;ERG,non_coding_transcript_exon_variant,,ENST00000481609,;ERG,downstream_gene_variant,,ENST00000492833,;	uc010gnw.2	c.821C>T	1116/1868	2	2			c.821C>T						21	SNP	c.(820-822)ACG>ATG	26	26	TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)		prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828	Broad	ets-related isoform 4			39764312		0.448	ENSG00000157554	5137	g.chr21:39764312G>A	cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	Esophageal Squamous(130;336 1700 3010 3083 40589)		177	Esophageal Squamous(130;336 1700 3010 3083 40589)		177	35.028574	KEEP	4	7	-1	5	3	4	7	-1	35.223399	5	3	0.611111	1	0	0	0	0	1	0	0	0	--	--		0	A			ERG_uc002yxa.2_Missense_Mutation_p.T267M|ERG_uc011aek.1_Missense_Mutation_p.T175M|ERG_uc010gnv.2_Missense_Mutation_p.T151M|ERG_uc010gnx.2_Missense_Mutation_p.T250M|ERG_uc011ael.1_Missense_Mutation_p.T274M|ERG_uc002yxb.2_Missense_Mutation_p.T250M|ERG_uc011aem.1_Missense_Mutation_p.T148M|ERG_uc010gny.1_RNA	211	GBM-28-2509-TP	p.T274M	G	CGACTGGGGCGTGGGGTGGCC	NM_001136155	NP_001129627	39764312	P11308	ERG_HUMAN	0			9	1116	-	A	A		Prostate(19;3.6e-06)	Missense_Mutation	274						
ERG	0	broad.mit.edu	GRCh37	21	39755623	39755623	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-4719-01	TCGA-32-4719-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398919.2:c.1163T>C	p.Val388Ala	p.V388A	ENST00000398919	NM_001243428.1	388	gTc/gCc	0			1			G	V/A	uc010gnw.2	protein_coding		CCDS46648.1			1163/1461							TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)		prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828	c.(1162-1164)GTC>GCC			Prints_domain:PR00454,Superfamily_domains:SSF46785,SMART_domains:SM00413,Pfam_domain:PF00178,Gene3D:1.10.10.10,hmmpanther:PTHR11849:SF161,hmmpanther:PTHR11849,PROSITE_profiles:PS50061	ets-related isoform 4				ENSP00000381891		12-Dec									COSM2157451	12-Dec	.		ENST00000398919	Transcript	1		cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	ENSG00000157554	g.chr21:39755623A>G	3446			MODERATE		3.36	medium	getma.org/?cm=msa&ty=f&p=ERG_HUMAN&rb=317&re=400&var=V388A	getma.org/pdb.php?prot=ERG_HUMAN&from=317&to=400&var=V388A	getma.org/?cm=var&var=hg19,21,39755623,A,G&fts=all	V388A	--	--	1																																		ERG_uc002yxa.2_Missense_Mutation_p.V381A|ERG_uc011aek.1_Missense_Mutation_p.V289A|ERG_uc010gnv.2_Missense_Mutation_p.V265A|ERG_uc010gnx.2_Missense_Mutation_p.V364A|ERG_uc011ael.1_Missense_Mutation_p.V388A|ERG_uc002yxb.2_Missense_Mutation_p.V364A	1			probably_damaging(0.998)	p.V388A	NM_001136155	NP_001129627		deleterious(0)	1	ERG_HUMAN	ERG	HGNC	P11308	ERG_HUMAN			Q16031_HUMAN,B4DVX5_HUMAN		12	1458	-		Prostate(19;3.6e-06)	UPI000018681C	388			ETS.		SNV	ERG,missense_variant,p.Val364Ala,ENST00000442448,NM_004449.4;ERG,missense_variant,p.Val388Ala,ENST00000417133,NM_001136154.1,NM_001243432.1;ERG,missense_variant,p.Val365Ala,ENST00000398910,;ERG,missense_variant,p.Val381Ala,ENST00000288319,NM_182918.3;ERG,missense_variant,p.Val364Ala,ENST00000398911,;ERG,missense_variant,p.Val358Ala,ENST00000398907,;ERG,missense_variant,p.Val357Ala,ENST00000398905,;ERG,missense_variant,p.Val265Ala,ENST00000398897,NM_001243429.1;ERG,missense_variant,p.Val388Ala,ENST00000398919,NM_001243428.1;ERG,missense_variant,p.Val289Ala,ENST00000453032,NM_001136155.1;	uc010gnw.2	c.1163T>C	1458/1868	3	3			c.1163T>C						21	SNP	c.(1162-1164)GTC>GCC	14	14	TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)		prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828	Broad	ets-related isoform 4			39755623		0.592	ENSG00000157554	5137	g.chr21:39755623A>G	cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	Esophageal Squamous(130;336 1700 3010 3083 40589)		177	Esophageal Squamous(130;336 1700 3010 3083 40589)		177	230.71592	KEEP	28	56	-1	60	58	28	56	-1	232.190708	60	58	0.401163	1	0	0	0	0	1	0	0	0	--	--		0	G			ERG_uc002yxa.2_Missense_Mutation_p.V381A|ERG_uc011aek.1_Missense_Mutation_p.V289A|ERG_uc010gnv.2_Missense_Mutation_p.V265A|ERG_uc010gnx.2_Missense_Mutation_p.V364A|ERG_uc011ael.1_Missense_Mutation_p.V388A|ERG_uc002yxb.2_Missense_Mutation_p.V364A	248	GBM-32-4719-TP	p.V388A	A	CTTCCCATGGACCTTGGTCAT	NM_001136155	NP_001129627	39755623	P11308	ERG_HUMAN	0			12	1458	-	G	G		Prostate(19;3.6e-06)	Missense_Mutation	388			ETS.			
ERGIC1	57222	broad.mit.edu	GRCh37	5	172336690	172336690	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-02-2470-01	TCGA-02-2470-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393784.3:c.176A>G	p.Asp59Gly	p.D59G	ENST00000393784	NM_001031711.2	59	gAt/gGt	0			1			G	D/G	uc003mbw.3	protein_coding	YES	CCDS34292.1			176/873									skin(2)|ovary(1)	3	c.(175-177)GAT>GGT			hmmpanther:PTHR10984,Pfam_domain:PF13850	endoplasmic reticulum-golgi intermediate				ENSP00000377374		10-Apr									COSM2149076	10-Apr	.		ENST00000393784	Transcript			ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	ENSG00000113719	g.chr5:172336690A>G	29205			MODERATE		3.625	high	getma.org/?cm=msa&ty=f&p=ERGI1_HUMAN&rb=4&re=96&var=D59G	NA	getma.org/?cm=var&var=hg19,5,172336690,A,G&fts=all	D59G	--	--	1																																		ERGIC1_uc003mby.3_5'UTR|ERGIC1_uc011dfa.1_5'UTR|ERGIC1_uc003mbz.3_Missense_Mutation_p.D14G	1	1		probably_damaging(0.966)	p.D59G	NM_001031711	NP_001026881		deleterious(0)	1	ERGI1_HUMAN	ERGIC1	HGNC	Q969X5	ERGI1_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)				4	370	+	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	UPI0000072178	59			Lumenal (Potential).		SNV	ERGIC1,missense_variant,p.Asp14Gly,ENST00000326654,;ERGIC1,missense_variant,p.Asp59Gly,ENST00000393784,NM_001031711.2;ERGIC1,missense_variant,p.Asp59Gly,ENST00000520326,;ERGIC1,missense_variant,p.Asp59Gly,ENST00000523291,;ERGIC1,missense_variant,p.Asp14Gly,ENST00000518247,;ERGIC1,missense_variant,p.Asp48Gly,ENST00000519567,;ERGIC1,missense_variant,p.Asp8Gly,ENST00000519796,;ERGIC1,intron_variant,,ENST00000520642,;	uc003mbw.3	c.176A>G	315/2881	4	4			c.176A>G						5	SNP	c.(175-177)GAT>GGT	21	21			skin(2)|ovary(1)	3	Broad	endoplasmic reticulum-golgi intermediate			172336690		0.542	ENSG00000113719	5138	g.chr5:172336690A>G	ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding							85.876472	KEEP	30	17	-1	80	89	30	17	-1	102.412521	80	89	0.192513	1	0	0	0	0	1	0	0	0	--	--		0	G			ERGIC1_uc003mby.3_5'UTR|ERGIC1_uc011dfa.1_5'UTR|ERGIC1_uc003mbz.3_Missense_Mutation_p.D14G	5	GBM-02-2470-TP	p.D59G	A	CTCTATGTCGATGACCCAGAC	NM_001031711	NP_001026881	172336690	Q969X5	ERGI1_HUMAN	0	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		4	370	+	G	G	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Missense_Mutation	59			Lumenal (Potential).			
ERMAP	114625		GRCh37	1	43296184	43296184	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000372517.2:c.65G>A	p.Arg22Gln	p.R22Q	ENST00000372517	NM_001017922.1	22	cGg/cAg	0																																																																																																																																																																																																																																												
ERN1	2081	broad.mit.edu	GRCh37	17	62144066	62144066	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-1804-01	TCGA-06-1804-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000433197.3:c.807G>A	p.Pro269=	p.P269=	ENST00000433197	NM_001433.3	269	ccG/ccA	0	T:0	T:0.0015	1	T:0		T	P	uc002jdz.2	protein_coding	YES	CCDS45762.1			807/2934									central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1)	9	c.(805-807)CCG>CCA			hmmpanther:PTHR13954:SF10,hmmpanther:PTHR13954	endoplasmic reticulum to nucleus signalling 1		T:0	T:0.0001	ENSP00000401445	T:0	22-Aug	1.65E-05	0.000103				1.50E-05			rs183713088,COSM3403121,COSM3403120	22-Aug	.		ENST00000433197	Transcript		T:0.0004	activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	ENSG00000178607	g.chr17:62144066C>T	3449			LOW								--	--	1																																			0,1,1	1			p.P269P	NM_001433	NP_001424	T:0		0,1,1	ERN1_HUMAN	ERN1	HGNC	O75460	ERN1_HUMAN					8	920	-			UPI0000201263	269			Lumenal (Potential).		SNV	ERN1,synonymous_variant,p.=,ENST00000433197,NM_001433.3;ERN1,downstream_gene_variant,,ENST00000577567,;ERN1,non_coding_transcript_exon_variant,,ENST00000583896,;ERN1,downstream_gene_variant,,ENST00000579249,;	uc002jdz.2	c.807G>A	903/7876	2	2			c.807G>A						17	SNP	c.(805-807)CCG>CCA	22	22			central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1)	9	Broad	endoplasmic reticulum to nucleus signalling 1			62144066		0.592	ENSG00000178607	5152	g.chr17:62144066C>T	activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			295			295	35.930789	KEEP	6	8	-1	17	14	6	8	-1	37.093809	17	14	0.325581	1	0	0	0	0	0	0	1	0	--	--		0	T				79	GBM-06-1804-TP	p.P269P	C	CCTTGGGGAACGGGTACTTCC	NM_001433	NP_001424	62144066	O75460	ERN1_HUMAN	0			8	920	-	T	T			Silent	269			Lumenal (Potential).			
ERN2	0	broad.mit.edu	GRCh37	16	23712369	23712369	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-26-6174-01	TCGA-26-6174-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256797.4:c.1414T>C	p.Ser472Pro	p.S472P	ENST00000256797	NM_033266.3	472	Tct/Cct	0			1			G	S/P	uc002dma.3	protein_coding	YES	CCDS32407.1			1414/2925									large_intestine(2)|lung(2)|ovary(2)	6	c.(1414-1416)TCT>CCT			hmmpanther:PTHR13954:SF9,hmmpanther:PTHR13954	endoplasmic reticulum to nucleus signalling 2				ENSP00000256797		22-Dec									COSM3747987	22-Dec	.		ENST00000256797	Transcript			apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	ENSG00000134398	g.chr16:23712369A>G	16942			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=ERN2_HUMAN&rb=401&re=519&var=S424P	NA	getma.org/?cm=var&var=hg19,16,23712369,A,G&fts=all	S424P	--	--	1																																		ERN2_uc010bxp.2_Intron|ERN2_uc010bxq.1_Missense_Mutation_p.S280P	1	1		benign(0.004)	p.S472P	NM_033266	NP_150296		tolerated(0.14)	1	ERN2_HUMAN	ERN2	HGNC	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)			12	1583	-			UPI000041A8F8	424			Lumenal (Potential).		SNV	ERN2,missense_variant,p.Ser472Pro,ENST00000256797,NM_033266.3;ERN2,intron_variant,,ENST00000457008,;ERN2,3_prime_UTR_variant,,ENST00000562562,;	uc002dma.3	c.1414T>C	1583/3549	3	3			c.1414T>C						16	SNP	c.(1414-1416)TCT>CCT	12	12			large_intestine(2)|lung(2)|ovary(2)	6	Broad	endoplasmic reticulum to nucleus signalling 2			23712369		0.562	ENSG00000134398	5153	g.chr16:23712369A>G	apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			225			225	68.950407	KEEP	13	14	-1	50	36	13	14	-1	75.119509	50	36	0.24	1	0	0	0	0	1	0	0	0	--	--		0	G			ERN2_uc010bxp.2_Intron|ERN2_uc010bxq.1_Missense_Mutation_p.S280P	188	GBM-26-6174-TP	p.S472P	A	CCCAAGTAAGAGTCTGGAGTT	NM_033266	NP_150296	23712369	Q76MJ5	ERN2_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0156)	12	1583	-	G	G			Missense_Mutation	424			Lumenal (Potential).			
ERN2	10595		GRCh37	16	23718095	23718095	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000256797.4:c.611G>A	p.Arg204His	p.R204H	ENST00000256797	NM_033266.3	204	cGc/cAc	0																																																																																																																																																																																																																																												
ERO1L			GRCh37	14	53162168	53162168	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000395686.3:c.32T>C	p.Leu11Pro	p.L11P	ENST00000395686	NM_014584.1	11	cTc/cCc	0																																																																																																																																																																																																																																												
ERP27	0	broad.mit.edu	GRCh37	12	15073953	15073953	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-2524-01	TCGA-27-2524-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266397.2:c.363C>T	p.Asp121=	p.D121=	ENST00000266397	NM_152321.2	121	gaC/gaT	0	A:0	A:0	1	A:0		A	D	uc001rco.2	protein_coding	YES	CCDS8670.1			363/822									breast(1)	1	c.(361-363)GAC>GAT			Gene3D:3.40.30.10,Pfam_domain:PF13848,hmmpanther:PTHR18929,hmmpanther:PTHR18929:SF77,Superfamily_domains:SSF52833	endoplasmic reticulum protein 27 kDa precursor		A:0.001	A:0.0001	ENSP00000266397	A:0	7-Apr	0.000231		0.000606	0.000925		0.00015		0.000182	rs199978046,COSM3398574	7-Apr	common_variant		ENST00000266397	Transcript		A:0.0006		endoplasmic reticulum lumen		ENSG00000139055	g.chr12:15073953G>A	26495			LOW								--	--	1																																			0,1	1			p.D121D	NM_152321	NP_689534	A:0.002		0,1	ERP27_HUMAN	ERP27	HGNC	Q96DN0	ERP27_HUMAN					4	384	-			UPI0000037A99	121			Thioredoxin.		SNV	ERP27,synonymous_variant,p.=,ENST00000266397,NM_152321.2;ERP27,synonymous_variant,p.=,ENST00000540097,;ERP27,upstream_gene_variant,,ENST00000544881,;	uc001rco.2	c.363C>T	937/2096	2	2			c.363C>T						12	SNP	c.(361-363)GAC>GAT	47	47			breast(1)	1	Broad	endoplasmic reticulum protein 27 kDa precursor			15073953		0.333	ENSG00000139055	5156	g.chr12:15073953G>A		endoplasmic reticulum lumen								143.453516	KEEP	25	35	-1	53	58	25	35	-1	147.607988	53	58	0.326923	1	0	0	0	0	0	0	1	0	--	--		0	A				202	GBM-27-2524-TP	p.D121D	G	CAATGTCTTCGTCCTCTAAAT	NM_152321	NP_689534	15073953	Q96DN0	ERP27_HUMAN	0			4	384	-	A	A			Silent	121			Thioredoxin.			
ERP27	121506		GRCh37	12	15070213	15070213	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000266397.2:c.475G>A	p.Val159Ile	p.V159I	ENST00000266397	NM_152321.2	159	Gta/Ata	0																																																																																																																																																																																																																																												
ERP44	0	broad.mit.edu	GRCh37	9	102784454	102784454	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5213-01	TCGA-28-5213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262455.6:c.341G>A	p.Arg114His	p.R114H	ENST00000262455	NM_015051.1	114	cGt/cAt	0			1			T	R/H	uc004bam.2	protein_coding	YES	CCDS35082.1			341/1221										0	c.(340-342)CGT>CAT			Gene3D:3.40.30.10,Pfam_domain:PF00085,PROSITE_profiles:PS51352,hmmpanther:PTHR18929,hmmpanther:PTHR18929:SF49,Superfamily_domains:SSF52833	thioredoxin domain containing 4 (endoplasmic				ENSP00000262455		12-May									COSM3413200	12-May	.		ENST00000262455	Transcript			cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity	ENSG00000023318	g.chr9:102784454C>T	18311			MODERATE		1.565	low	getma.org/?cm=msa&ty=f&p=ERP44_HUMAN&rb=30&re=139&var=R114H	getma.org/pdb.php?prot=ERP44_HUMAN&from=30&to=139&var=R114H	getma.org/?cm=var&var=hg19,9,102784454,C,T&fts=all	R114H	--	--	1																																		ERP44_uc010msy.2_RNA|ERP44_uc010msz.2_Missense_Mutation_p.R114H	1	1		possibly_damaging(0.848)	p.R114H	NM_015051	NP_055866		deleterious(0)	1	ERP44_HUMAN	ERP44	HGNC	Q9BS26	ERP44_HUMAN					5	549	-			UPI0000072130	114			Thioredoxin.		SNV	ERP44,missense_variant,p.Arg114His,ENST00000262455,NM_015051.1;	uc004bam.2	c.341G>A	541/4854	2	2			c.341G>A						9	SNP	c.(340-342)CGT>CAT	29	29				0	Broad	thioredoxin domain containing 4 (endoplasmic			102784454		0.393	ENSG00000023318	5158	g.chr9:102784454C>T	cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity							107.663066	KEEP	20	31	-1	125	90	20	31	-1	128.160399	125	90	0.198347	1	0	0	0	0	1	0	0	0	--	--		0	T			ERP44_uc010msy.2_RNA|ERP44_uc010msz.2_Missense_Mutation_p.R114H	220	GBM-28-5213-TP	p.R114H	C	CATCCCATTACGAAACAATTT	NM_015051	NP_055866	102784454	Q9BS26	ERP44_HUMAN	0			5	549	-	T	T			Missense_Mutation	114			Thioredoxin.			
ESAM	0	broad.mit.edu	GRCh37	11	124623728	124623728	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-19-5947-01	TCGA-19-5947-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278927.5:c.987T>G	p.Gly329=	p.G329=	ENST00000278927	NM_138961.2	329	ggT/ggG	0			1			C	G	uc001qav.3	protein_coding	YES	CCDS8453.1			987/1173										0	c.(985-987)GGT>GGG			hmmpanther:PTHR12231:SF8,hmmpanther:PTHR12231	endothelial cell adhesion molecule precursor				ENSP00000278927		7-Jul									COSM2156511	7-Jul	.		ENST00000278927	Transcript			blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction		ENSG00000149564	g.chr11:124623728A>C	17474			LOW								--	--	1																																		VSIG2_uc001qas.2_5'Flank|VSIG2_uc001qat.2_5'Flank|ESAM_uc010sao.1_Intron|ESAM_uc001qau.3_Silent_p.G256G|ESAM_uc001qaw.3_RNA|ESAM_uc001qax.3_RNA|ESAM_uc009zbi.2_Missense_Mutation_p.V328G	1	1			p.G329G	NM_138961	NP_620411			1	ESAM_HUMAN	ESAM	HGNC	Q96AP7	ESAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)			7	1160	-	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	UPI000003721A	329			Cytoplasmic (Potential).		SNV	ESAM,synonymous_variant,p.=,ENST00000278927,NM_138961.2;ESAM,intron_variant,,ENST00000442070,;ESAM,intron_variant,,ENST00000444566,;VSIG2,upstream_gene_variant,,ENST00000403470,;VSIG2,upstream_gene_variant,,ENST00000326621,NM_014312.3;ESAM,downstream_gene_variant,,ENST00000435477,;ESAM,3_prime_UTR_variant,,ENST00000417453,;ESAM,non_coding_transcript_exon_variant,,ENST00000464067,;ESAM,non_coding_transcript_exon_variant,,ENST00000485116,;	uc001qav.3	c.987T>G	1117/1826	3	3			c.987T>G						11	SNP	c.(985-987)GGT>GGG	13	13				0	Broad	endothelial cell adhesion molecule precursor			124623728		0.647	ENSG00000149564	5162	g.chr11:124623728A>C	blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction								78.42867	KEEP	13	17	-1	30	36	13	17	-1	81.490426	30	36	0.302326	1	0	0	0	0	0	0	1	0	--	--		0	C			VSIG2_uc001qas.2_5'Flank|VSIG2_uc001qat.2_5'Flank|ESAM_uc010sao.1_Intron|ESAM_uc001qau.3_Silent_p.G256G|ESAM_uc001qaw.3_RNA|ESAM_uc001qax.3_RNA|ESAM_uc009zbi.2_Missense_Mutation_p.V328G	169	GBM-19-5947-TP	p.G329G	A	GGGTCAATGCACCAGGCCTGG	NM_138961	NP_620411	124623728	Q96AP7	ESAM_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)	7	1160	-	C	C	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	Silent	329			Cytoplasmic (Potential).			
ESPL1	9700	broad.mit.edu	GRCh37	12	53684176	53684176	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01	TCGA-06-0122-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257934.4:c.5287G>A	p.Ala1763Thr	p.A1763T	ENST00000257934	NM_012291.4	1763	Gca/Aca	0			1			A	A/T	uc001sck.2	protein_coding	YES	CCDS8852.1			5287/6363									lung(1)|kidney(1)|skin(1)	3	c.(5287-5289)GCA>ACA			Pfam_domain:PF03568,hmmpanther:PTHR12792	separase				ENSP00000257934		24/31	8.24E-06							6.06E-05	rs755703187,COSM2149167	24/31	.		ENST00000257934	Transcript			apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	ENSG00000135476	g.chr12:53684176G>A	16856			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=ESPL1_HUMAN&rb=1716&re=2069&var=A1763T	NA	getma.org/?cm=var&var=hg19,12,53684176,G,A&fts=all	A1763T	--	--	1																																		ESPL1_uc001scj.2_Missense_Mutation_p.A1438T	0,1	1		benign(0.139)	p.A1763T	NM_012291	NP_036423		deleterious(0)	0,1	ESPL1_HUMAN	ESPL1	HGNC	Q14674	ESPL1_HUMAN			H3BRX7_HUMAN		24	5378	+			UPI00003668C3	1763					SNV	ESPL1,missense_variant,p.Ala1763Thr,ENST00000257934,NM_012291.4;ESPL1,missense_variant,p.Ala1763Thr,ENST00000552462,;PFDN5,upstream_gene_variant,,ENST00000551018,NM_002624.3;ESPL1,3_prime_UTR_variant,,ENST00000552671,;ESPL1,non_coding_transcript_exon_variant,,ENST00000549154,;ESPL1,downstream_gene_variant,,ENST00000553016,;ESPL1,downstream_gene_variant,,ENST00000535123,;ESPL1,downstream_gene_variant,,ENST00000552600,;	uc001sck.2	c.5287G>A	5378/6623	1	1			c.5287G>A						12	SNP	c.(5287-5289)GCA>ACA	56	56			lung(1)|kidney(1)|skin(1)	3	Broad	separase			53684176		0.557	ENSG00000135476	5168	g.chr12:53684176G>A	apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	Colon(53;1069 1201 2587 5382)			Colon(53;1069 1201 2587 5382)			74.74776	KEEP	17	13	-1	26	26	17	13	-1	76.242337	26	26	0.350649	1	0	0	0	0	1	0	0	0	--	--		0	A			ESPL1_uc001scj.2_Missense_Mutation_p.A1438T	10	GBM-06-0122-TP	p.A1763T	G	CATCCAGAAGGCACAGAAAGA	NM_012291	NP_036423	53684176	Q14674	ESPL1_HUMAN	0			24	5378	+	A	A			Missense_Mutation	1763						
ESPL1	0	broad.mit.edu	GRCh37	12	53687195	53687195	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0789-01	TCGA-14-0789-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257934.4:c.6300C>T	p.Pro2100=	p.P2100=	ENST00000257934	NM_012291.4	2100	ccC/ccT	0			1			T	P	uc001sck.2	protein_coding	YES	CCDS8852.1			6300/6363									lung(1)|kidney(1)|skin(1)	3	c.(6298-6300)CCC>CCT			hmmpanther:PTHR12792	separase				ENSP00000257934		31/31									COSM3398849	31/31	.		ENST00000257934	Transcript			apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	ENSG00000135476	g.chr12:53687195C>T	16856			LOW								--	--	1																																		ESPL1_uc001scj.2_Silent_p.P1775P|PFDN5_uc001scl.2_5'Flank|PFDN5_uc001scm.2_5'Flank|PFDN5_uc001scn.2_5'Flank|PFDN5_uc001sco.2_5'Flank	1	1			p.P2100P	NM_012291	NP_036423			1	ESPL1_HUMAN	ESPL1	HGNC	Q14674	ESPL1_HUMAN			H3BRX7_HUMAN		31	6391	+			UPI00003668C3	2100					SNV	ESPL1,synonymous_variant,p.=,ENST00000257934,NM_012291.4;ESPL1,synonymous_variant,p.=,ENST00000552462,;PFDN5,upstream_gene_variant,,ENST00000551018,NM_002624.3;PFDN5,upstream_gene_variant,,ENST00000334478,;PFDN5,upstream_gene_variant,,ENST00000549759,;PFDN5,upstream_gene_variant,,ENST00000351500,NM_145897.2;PFDN5,upstream_gene_variant,,ENST00000550846,;ESPL1,3_prime_UTR_variant,,ENST00000552671,;ESPL1,non_coding_transcript_exon_variant,,ENST00000549154,;PFDN5,upstream_gene_variant,,ENST00000552341,;ESPL1,downstream_gene_variant,,ENST00000553016,;PFDN5,upstream_gene_variant,,ENST00000550513,;ESPL1,downstream_gene_variant,,ENST00000552600,;PFDN5,upstream_gene_variant,,ENST00000547228,;PFDN5,upstream_gene_variant,,ENST00000550069,;PFDN5,upstream_gene_variant,,ENST00000549995,;PFDN5,upstream_gene_variant,,ENST00000550964,;PFDN5,upstream_gene_variant,,ENST00000550880,;PFDN5,upstream_gene_variant,,ENST00000552742,;PFDN5,upstream_gene_variant,,ENST00000243040,;PFDN5,upstream_gene_variant,,ENST00000547130,;PFDN5,upstream_gene_variant,,ENST00000548984,;PFDN5,upstream_gene_variant,,ENST00000552548,;PFDN5,upstream_gene_variant,,ENST00000553171,;PFDN5,upstream_gene_variant,,ENST00000551223,;	uc001sck.2	c.6300C>T	6391/6623	1	1			c.6300C>T						12	SNP	c.(6298-6300)CCC>CCT	8	8			lung(1)|kidney(1)|skin(1)	3	Broad	separase			53687195		0.567	ENSG00000135476	5168	g.chr12:53687195C>T	apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	Colon(53;1069 1201 2587 5382)			Colon(53;1069 1201 2587 5382)			30.77069	KEEP	11	9	-1	41	44	11	9	-1	38.94324	41	44	0.178571	1	0	0	0	0	0	0	1	0	--	--		0	T			ESPL1_uc001scj.2_Silent_p.P1775P|PFDN5_uc001scl.2_5'Flank|PFDN5_uc001scm.2_5'Flank|PFDN5_uc001scn.2_5'Flank|PFDN5_uc001sco.2_5'Flank	136	GBM-14-0789-TP	p.P2100P	C	GCCAAGCTCCCCGACTCAAGT	NM_012291	NP_036423	53687195	Q14674	ESPL1_HUMAN	0			31	6391	+	T	T			Silent	2100						
ESPL1	0	broad.mit.edu	GRCh37	12	53662559	53662559	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-1991-01	TCGA-32-1991-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257934.4:c.9C>A	p.Ser3Arg	p.S3R	ENST00000257934	NM_012291.4	3	agC/agA	0			1			A	S/R	uc001sck.2	protein_coding	YES	CCDS8852.1			Sep-63									lung(1)|kidney(1)|skin(1)	3	c.(7-9)AGC>AGA				separase				ENSP00000257934		Feb-31									COSM3398846	Feb-31	.		ENST00000257934	Transcript			apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	ENSG00000135476	g.chr12:53662559C>A	16856			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=ESPL1_HUMAN&rb=1&re=1299&var=S3R	NA	getma.org/?cm=var&var=hg19,12,53662559,C,A&fts=all	S3R	--	--	1																																		ESPL1_uc001scj.2_5'UTR	1	1		benign(0.001)	p.S3R	NM_012291	NP_036423		tolerated(0.39)	1	ESPL1_HUMAN	ESPL1	HGNC	Q14674	ESPL1_HUMAN			H3BRX7_HUMAN		2	100	+			UPI00003668C3	3					SNV	ESPL1,missense_variant,p.Ser3Arg,ENST00000257934,NM_012291.4;ESPL1,missense_variant,p.Ser3Arg,ENST00000552462,;ESPL1,missense_variant,p.Ser3Arg,ENST00000553219,;ESPL1,missense_variant,p.Ser3Arg,ENST00000552671,;	uc001sck.2	c.9C>A	100/6623	2	2			c.9C>A						12	SNP	c.(7-9)AGC>AGA	30	30			lung(1)|kidney(1)|skin(1)	3	Broad	separase			53662559		0.527	ENSG00000135476	5168	g.chr12:53662559C>A	apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	Colon(53;1069 1201 2587 5382)			Colon(53;1069 1201 2587 5382)			-4.924091	KEEP	3	0	-1	35	26	3	0	-1	6.577562	35	26	0.054545	1	0	0	0	0	1	0	0	0	--	--		0	A			ESPL1_uc001scj.2_5'UTR	234	GBM-32-1991-TP	p.S3R	C	TCATGAGGAGCTTCAAAAGAG	NM_012291	NP_036423	53662559	Q14674	ESPL1_HUMAN	0			2	100	+	A	A			Missense_Mutation	3						
ESPL1	0	broad.mit.edu	GRCh37	12	53663689	53663689	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4926-01	TCGA-76-4926-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257934.4:c.963C>T	p.Val321=	p.V321=	ENST00000257934	NM_012291.4	321	gtC/gtT	0		T:0	1	T:0		T	V	uc001sck.2	protein_coding	YES	CCDS8852.1			963/6363									lung(1)|kidney(1)|skin(1)	3	c.(961-963)GTC>GTT			hmmpanther:PTHR12792	separase		T:0.001		ENSP00000257934	T:0	31-Mar									rs200510757,COSM3398848	31-Mar	.		ENST00000257934	Transcript		T:0.0002	apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	ENSG00000135476	g.chr12:53663689C>T	16856			LOW								--	--	1																																		ESPL1_uc001scj.2_5'UTR	0,1	1			p.V321V	NM_012291	NP_036423	T:0		0,1	ESPL1_HUMAN	ESPL1	HGNC	Q14674	ESPL1_HUMAN			H3BRX7_HUMAN		3	1054	+			UPI00003668C3	321					SNV	ESPL1,synonymous_variant,p.=,ENST00000257934,NM_012291.4;ESPL1,synonymous_variant,p.=,ENST00000552462,;ESPL1,downstream_gene_variant,,ENST00000553219,;ESPL1,upstream_gene_variant,,ENST00000550026,;ESPL1,3_prime_UTR_variant,,ENST00000552671,;	uc001sck.2	c.963C>T	1054/6623	2	2			c.963C>T						12	SNP	c.(961-963)GTC>GTT	36	36			lung(1)|kidney(1)|skin(1)	3	Broad	separase			53663689		0.577	ENSG00000135476	5168	g.chr12:53663689C>T	apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	Colon(53;1069 1201 2587 5382)			Colon(53;1069 1201 2587 5382)			104.61423	KEEP	24	19	-1	57	53	24	19	-1	109.698387	57	53	0.297101	1	0	0	0	0	0	0	1	0	--	--		0	T			ESPL1_uc001scj.2_5'UTR	266	GBM-76-4926-TP	p.V321V	C	CATCAGCTGTCCTGAGCAAGA	NM_012291	NP_036423	53663689	Q14674	ESPL1_HUMAN	0			3	1054	+	T	T			Silent	321						
ESPN	83715	broad.mit.edu	GRCh37	1	6517297	6517297	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377828.1:c.2379C>T	p.Leu793=	p.L793=	ENST00000377828	NM_031475.2	793	ctC/ctT	0			1			T	L	uc001amy.2	protein_coding	YES	CCDS70.1			2379/2565										0	c.(2377-2379)CTC>CTT			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24153,hmmpanther:PTHR24153:SF14	espin				ENSP00000367059		13-Nov									COSM3400949	13-Nov	.		ENST00000377828	Transcript	1		sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding	ENSG00000187017	g.chr1:6517297C>T	13281			LOW								--	--	1																																		ESPN_uc001amz.2_Silent_p.L227L	1	1			p.L793L	NM_031475	NP_113663			1	ESPN_HUMAN	ESPN	HGNC	B1AK53	ESPN_HUMAN		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)			11	2547	+	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)	UPI000013D2B6	793			Glu-rich.|Potential.		SNV	ESPN,synonymous_variant,p.=,ENST00000377828,NM_031475.2;ESPN,synonymous_variant,p.=,ENST00000461727,;ESPN,synonymous_variant,p.=,ENST00000416731,;ESPN,synonymous_variant,p.=,ENST00000434576,;TNFRSF25,downstream_gene_variant,,ENST00000377782,NM_148965.1;TNFRSF25,downstream_gene_variant,,ENST00000356876,NM_003790.2,NM_148967.1;TNFRSF25,downstream_gene_variant,,ENST00000351959,NM_148966.1;TNFRSF25,downstream_gene_variant,,ENST00000348333,;TNFRSF25,downstream_gene_variant,,ENST00000351748,NM_148970.1;ESPN,non_coding_transcript_exon_variant,,ENST00000475228,;ESPN,upstream_gene_variant,,ENST00000468561,;TNFRSF25,downstream_gene_variant,,ENST00000475730,;ESPN,non_coding_transcript_exon_variant,,ENST00000477679,;TNFRSF25,downstream_gene_variant,,ENST00000513135,;TNFRSF25,downstream_gene_variant,,ENST00000485036,;TNFRSF25,downstream_gene_variant,,ENST00000480393,;TNFRSF25,downstream_gene_variant,,ENST00000473343,;TNFRSF25,downstream_gene_variant,,ENST00000414040,;TNFRSF25,downstream_gene_variant,,ENST00000510563,;TNFRSF25,downstream_gene_variant,,ENST00000453260,;TNFRSF25,downstream_gene_variant,,ENST00000502588,;TNFRSF25,downstream_gene_variant,,ENST00000502730,;TNFRSF25,downstream_gene_variant,,ENST00000469691,;	uc001amy.2	c.2379C>T	2547/3531	1	1			c.2379C>T						1	SNP	c.(2377-2379)CTC>CTT	16	16				0	Broad	espin			6517297		0.642	ENSG00000187017	5169	g.chr1:6517297C>T	sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding							22.937026	KEEP	4	7	-1	10	5	4	7	-1	22.977679	10	5	0.454545	1	0	0	0	0	0	0	1	0	--	--		0	T			ESPN_uc001amz.2_Silent_p.L227L	62	GBM-06-0649-TP	p.L793L	C	GGCGGGACCTCCTGCGGAAGA	NM_031475	NP_113663	6517297	B1AK53	ESPN_HUMAN	0		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)	11	2547	+	T	T	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)	Silent	793			Glu-rich.|Potential.			
ESPNL	0	broad.mit.edu	GRCh37	2	239036280	239036280	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343063.3:c.1120G>C	p.Ala374Pro	p.A374P	ENST00000343063	NM_194312.2	374	Gcc/Ccc	0			1			C	A/P	uc002vxq.3	protein_coding	YES	CCDS2525.1			1120/3018									pancreas(1)	1	c.(1120-1122)GCC>CCC			hmmpanther:PTHR24153,hmmpanther:PTHR24153:SF0	espin-like				ENSP00000339115		9-Jul									COSM3748122	9-Jul	.		ENST00000343063	Transcript						ENSG00000144488	g.chr2:239036280G>C	27937			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=ESPNL_HUMAN&rb=358&re=1003&var=A374P	NA	getma.org/?cm=var&var=hg19,2,239036280,G,C&fts=all	A374P	--	--	1																																		ESPNL_uc010fyw.2_Missense_Mutation_p.A70P	1	1		benign(0.177)	p.A374P	NM_194312	NP_919288		tolerated(0.13)	1	ESPNL_HUMAN	ESPNL	HGNC	Q6ZVH7	ESPNL_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	C9J6L8_HUMAN		7	1230	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	UPI000022BC90	374			Pro-rich.		SNV	ESPNL,missense_variant,p.Ala374Pro,ENST00000343063,NM_194312.2;ESPNL,missense_variant,p.Ala330Pro,ENST00000409169,;ESPNL,missense_variant,p.Ala6Pro,ENST00000409506,;ESPNL,missense_variant,p.Ala6Pro,ENST00000423032,;ESPNL,upstream_gene_variant,,ENST00000477241,;	uc002vxq.3	c.1120G>C	1383/4836	3	3			c.1120G>C						2	SNP	c.(1120-1122)GCC>CCC	2	2			pancreas(1)	1	Broad	espin-like			239036280		0.672	ENSG00000144488	5170	g.chr2:239036280G>C										2.63173	KEEP	2	0	-1	15	8	2	0	-1	6.864893	15	8	0.083333	1	0	0	0	0	1	0	0	0	--	--		0	C			ESPNL_uc010fyw.2_Missense_Mutation_p.A70P	160	GBM-19-1790-TP	p.A374P	G	CCTCAGCCCGGCCTGGCCTGG	NM_194312	NP_919288	239036280	Q6ZVH7	ESPNL_HUMAN	0		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	7	1230	+	C	C		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	Missense_Mutation	374			Pro-rich.			
ESPNP	284729		GRCh37	1	17017717	17017717	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000270691.4:n.2011G>A		p.*671*	ENST00000270691				0																																																																																																																																																																																																																																												
ESPNP	284729		GRCh37	1	17017734	17017734	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000270691.4:n.1994G>A		p.*665*	ENST00000270691				0																																																																																																																																																																																																																																												
ESPNP	284729		GRCh37	1	17026476	17026476	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000270691.4:n.1210G>A		p.*404*	ENST00000270691				0																																																																																																																																																																																																																																												
ESR1	2099	broad.mit.edu	GRCh37	6	152265483	152265483	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0645-01	TCGA-06-0645-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000206249.3:c.936C>T	p.Ala312=	p.A312=	ENST00000206249	NM_000125.3	312	gcC/gcT	0	T:0		1			T	A	uc003qom.3	protein_coding		CCDS5234.1			936/1788								p.A312A(1)	central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5	c.(934-936)GCC>GCT			PIRSF_domain:PIRSF500101,PIRSF_domain:PIRSF002527,Gene3D:1.10.565.10,hmmpanther:PTHR24084:SF3,hmmpanther:PTHR24084	estrogen receptor alpha isoform 4	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)		T:0.0001	ENSP00000206249		8-Apr	9.06E-05		8.64E-05		0.000302	0.00012			rs375030142,COSM42918	8-Apr	.		ENST00000206249	Transcript	1		positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	ENSG00000091831	g.chr6:152265483C>T	3467			LOW								--	--	1																																		ESR1_uc010kin.2_Silent_p.A312A|ESR1_uc010kio.2_Silent_p.A314A|ESR1_uc010kip.2_Silent_p.A311A|ESR1_uc003qon.3_Silent_p.A312A|ESR1_uc003qoo.3_Silent_p.A312A|ESR1_uc010kiq.2_Intron|ESR1_uc010kir.2_Intron|ESR1_uc011eet.1_Intron|ESR1_uc011eeu.1_Intron|ESR1_uc011eev.1_Intron|ESR1_uc011eew.1_Intron|ESR1_uc010kis.2_Intron|ESR1_uc011eex.1_Silent_p.A93A|ESR1_uc010kit.1_Silent_p.A49A|ESR1_uc011eey.1_Silent_p.A49A	0,1				p.A312A	NM_001122742	NP_001116214			0,1	ESR1_HUMAN	ESR1	HGNC	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Q9UE35_HUMAN,Q9UBT1_HUMAN,Q5T5H8_HUMAN,K7R989_HUMAN,K4Q331_HUMAN,K4PXX0_HUMAN,K4PX46_HUMAN,G4XH65_HUMAN,E3WH18_HUMAN,C8CJL0_HUMAN,C7FFR5_HUMAN,B6DU67_HUMAN		6	1306	+		Ovarian(120;0.0448)	UPI000004A328	312			Steroid-binding.|Interaction with AKAP13.		SNV	ESR1,synonymous_variant,p.=,ENST00000440973,NM_001122742.1;ESR1,synonymous_variant,p.=,ENST00000206249,NM_000125.3;ESR1,synonymous_variant,p.=,ENST00000443427,NM_001122740.1;ESR1,synonymous_variant,p.=,ENST00000427531,;ESR1,synonymous_variant,p.=,ENST00000338799,;ESR1,intron_variant,,ENST00000456483,NM_001122741.1;ESR1,intron_variant,,ENST00000406599,;ESR1,intron_variant,,ENST00000415488,;ESR1,non_coding_transcript_exon_variant,,ENST00000482101,;	uc003qom.3	c.936C>T	1298/6455	1	1			c.936C>T						6	SNP	c.(934-936)GCC>GCT	7	7		p.A312A(1)	central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5	Broad	estrogen receptor alpha isoform 4		Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	152265483		0.547	ENSG00000091831	5171	g.chr6:152265483C>T	positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			249			249	112.28316	KEEP	19	25	-1	47	59	19	25	-1	117.517079	47	59	0.291045	1	0	0	0	0	0	0	1	0	--	--		0	T			ESR1_uc010kin.2_Silent_p.A312A|ESR1_uc010kio.2_Silent_p.A314A|ESR1_uc010kip.2_Silent_p.A311A|ESR1_uc003qon.3_Silent_p.A312A|ESR1_uc003qoo.3_Silent_p.A312A|ESR1_uc010kiq.2_Intron|ESR1_uc010kir.2_Intron|ESR1_uc011eet.1_Intron|ESR1_uc011eeu.1_Intron|ESR1_uc011eev.1_Intron|ESR1_uc011eew.1_Intron|ESR1_uc010kis.2_Intron|ESR1_uc011eex.1_Silent_p.A93A|ESR1_uc010kit.1_Silent_p.A49A|ESR1_uc011eey.1_Silent_p.A49A	59	GBM-06-0645-TP	p.A312A	C	CCCTGACGGCCGACCAGATGG	NM_001122742	NP_001116214	152265483	P03372	ESR1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	6	1306	+	T	T		Ovarian(120;0.0448)	Silent	312			Steroid-binding.|Interaction with AKAP13.			
ESR1	0	broad.mit.edu	GRCh37	6	152163775	152163775	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000206249.3:c.496G>T	p.Ala166Ser	p.A166S	ENST00000206249	NM_000125.3	166	Gcc/Tcc	0			1			T	A/S	uc003qom.3	protein_coding		CCDS5234.1			496/1788									central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5	c.(496-498)GCC>TCC			Prints_domain:PR00543,PIRSF_domain:PIRSF500101,PIRSF_domain:PIRSF002527,Pfam_domain:PF02159,hmmpanther:PTHR24084:SF3,hmmpanther:PTHR24084	estrogen receptor alpha isoform 4	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)			ENSP00000206249		8-Feb									COSM2156042	8-Feb	.		ENST00000206249	Transcript	1		positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	ENSG00000091831	g.chr6:152163775G>T	3467			MODERATE		-0.415	neutral	getma.org/?cm=msa&ty=f&p=ESR1_HUMAN&rb=42&re=181&var=A166S	NA	getma.org/?cm=var&var=hg19,6,152163775,G,T&fts=all	A166S	--	--	1																																		ESR1_uc010kin.2_Missense_Mutation_p.A166S|ESR1_uc010kio.2_Missense_Mutation_p.A166S|ESR1_uc010kip.2_Missense_Mutation_p.A166S|ESR1_uc003qon.3_Missense_Mutation_p.A166S|ESR1_uc003qoo.3_Missense_Mutation_p.A166S|ESR1_uc010kiq.2_Intron|ESR1_uc010kir.2_Intron|ESR1_uc011eet.1_RNA|ESR1_uc011eeu.1_RNA|ESR1_uc011eev.1_5'UTR|ESR1_uc011eew.1_5'UTR	1			benign(0.002)	p.A166S	NM_001122742	NP_001116214		tolerated(0.76)	1	ESR1_HUMAN	ESR1	HGNC	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Q9UE35_HUMAN,Q9UBT1_HUMAN,Q5T5H8_HUMAN,K7R989_HUMAN,K4Q331_HUMAN,K4PXX0_HUMAN,K4PX46_HUMAN,G4XH65_HUMAN,E3WH18_HUMAN,C8CJL0_HUMAN,C7FFR5_HUMAN,B6DU67_HUMAN		4	866	+		Ovarian(120;0.0448)	UPI000004A328	166			Modulating; mediates interaction with MACROD1.		SNV	ESR1,missense_variant,p.Ala166Ser,ENST00000440973,NM_001122742.1;ESR1,missense_variant,p.Ala166Ser,ENST00000206249,NM_000125.3;ESR1,missense_variant,p.Ala166Ser,ENST00000443427,NM_001122740.1;ESR1,missense_variant,p.Ala166Ser,ENST00000456483,NM_001122741.1;ESR1,missense_variant,p.Ala166Ser,ENST00000338799,;ESR1,5_prime_UTR_variant,,ENST00000427531,;ESR1,intron_variant,,ENST00000406599,;	uc003qom.3	c.496G>T	858/6455	1	1			c.496G>T						6	SNP	c.(496-498)GCC>TCC	3	3			central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5	Broad	estrogen receptor alpha isoform 4		Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	152163775		0.453	ENSG00000091831	5171	g.chr6:152163775G>T	positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			249			249	24.325647	KEEP	3	7	0.3	12	22	3	7	0.3	26.960107	12	22	0.238095	1	0	0	0	0	1	0	0	0	--	--		0	T			ESR1_uc010kin.2_Missense_Mutation_p.A166S|ESR1_uc010kio.2_Missense_Mutation_p.A166S|ESR1_uc010kip.2_Missense_Mutation_p.A166S|ESR1_uc003qon.3_Missense_Mutation_p.A166S|ESR1_uc003qoo.3_Missense_Mutation_p.A166S|ESR1_uc010kiq.2_Intron|ESR1_uc010kir.2_Intron|ESR1_uc011eet.1_RNA|ESR1_uc011eeu.1_RNA|ESR1_uc011eev.1_5'UTR|ESR1_uc011eew.1_5'UTR	160	GBM-19-1790-TP	p.A166S	G	AGAAAGATTGGCCAGTACCAA	NM_001122742	NP_001116214	152163775	P03372	ESR1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	4	866	+	T	T		Ovarian(120;0.0448)	Missense_Mutation	166			Modulating; mediates interaction with MACROD1.			
ESR2	2100	broad.mit.edu	GRCh37	14	64727172	64727172	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0648-01	TCGA-06-0648-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341099.4:c.947T>A	p.Ile316Asn	p.I316N	ENST00000341099	NM_001437.2	316	aTt/aAt	0			1			T	I/N	uc001xha.1	protein_coding	YES	CCDS9762.1			947/1593									central_nervous_system(2)|ovary(1)	3	c.(946-948)ATT>AAT			hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF1,Pfam_domain:PF00104,Gene3D:1.10.565.10,PIRSF_domain:PIRSF500102,SMART_domains:SM00430,PIRSF_domain:PIRSF002527,Superfamily_domains:SSF48508,Prints_domain:PR00398	estrogen receptor beta isoform 1	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)			ENSP00000343925		9-May									COSM3401398,COSM3401400,COSM3401399,COSM3401401	9-May	.		ENST00000341099	Transcript			cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	ENSG00000140009	g.chr14:64727172A>T	3468			MODERATE		3.625	high	getma.org/?cm=msa&ty=f&p=ESR2_HUMAN&rb=277&re=494&var=I316N	getma.org/pdb.php?prot=ESR2_HUMAN&from=277&to=494&var=I316N	getma.org/?cm=var&var=hg19,14,64727172,A,T&fts=all	I316N	--	--	1																																		ESR2_uc001xgu.2_Missense_Mutation_p.I316N|ESR2_uc001xgv.2_Missense_Mutation_p.I316N|ESR2_uc001xgw.2_RNA|ESR2_uc001xgx.2_Missense_Mutation_p.I316N|ESR2_uc001xgy.1_Missense_Mutation_p.I316N|ESR2_uc001xgz.1_Missense_Mutation_p.I316N|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Missense_Mutation_p.I316N|ESR2_uc010aqd.1_RNA	1,1,1,1	1		probably_damaging(1)	p.I316N	NM_001437	NP_001428		deleterious(0)	1,1,1,1	ESR2_HUMAN	ESR2	HGNC	Q92731	ESR2_HUMAN		all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Q7LCB3_HUMAN,G3V5S2_HUMAN		5	1415	-			UPI0000000964	316			Steroid-binding.		SNV	ESR2,missense_variant,p.Ile316Asn,ENST00000557772,NM_001214903.1;ESR2,missense_variant,p.Ile316Asn,ENST00000554572,;ESR2,missense_variant,p.Ile316Asn,ENST00000556275,;ESR2,missense_variant,p.Ile316Asn,ENST00000542956,;ESR2,missense_variant,p.Ile316Asn,ENST00000353772,NM_001040275.1;ESR2,missense_variant,p.Ile316Asn,ENST00000341099,NM_001437.2;ESR2,missense_variant,p.Ile316Asn,ENST00000357782,;ESR2,missense_variant,p.Ile316Asn,ENST00000358599,;ESR2,missense_variant,p.Ile316Asn,ENST00000555278,NM_001214902.1;ESR2,missense_variant,p.Ile316Asn,ENST00000267525,NM_001271877.1;ESR2,missense_variant,p.Ile316Asn,ENST00000553796,NM_001271876.1;ESR2,non_coding_transcript_exon_variant,,ENST00000555483,;ESR2,non_coding_transcript_exon_variant,,ENST00000554520,;ESR2,non_coding_transcript_exon_variant,,ENST00000555783,;ESR2,missense_variant,p.Ile316Asn,ENST00000344288,;	uc001xha.1	c.947T>A	1365/2060	2	2			c.947T>A						14	SNP	c.(946-948)ATT>AAT	41	41			central_nervous_system(2)|ovary(1)	3	Broad	estrogen receptor beta isoform 1		Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	64727172		0.398	ENSG00000140009	5172	g.chr14:64727172A>T	cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			196			196	-69.299515	KEEP	6	2	-1	178	181	6	2	-1	10.54159	178	181	0.019481	1	0	0	0	0	1	0	0	0	--	--		0	T			ESR2_uc001xgu.2_Missense_Mutation_p.I316N|ESR2_uc001xgv.2_Missense_Mutation_p.I316N|ESR2_uc001xgw.2_RNA|ESR2_uc001xgx.2_Missense_Mutation_p.I316N|ESR2_uc001xgy.1_Missense_Mutation_p.I316N|ESR2_uc001xgz.1_Missense_Mutation_p.I316N|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Missense_Mutation_p.I316N|ESR2_uc010aqd.1_RNA	61	GBM-06-0648-TP	p.I316N	A	CCTACCGGGAATCTTCTTGGC	NM_001437	NP_001428	64727172	Q92731	ESR2_HUMAN	0		all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	5	1415	-	T	T			Missense_Mutation	316			Steroid-binding.			
ESR2	0	broad.mit.edu	GRCh37	14	64749369	64749369	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs141516067		TCGA-76-4927-01	TCGA-76-4927-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341099.4:c.335C>T	p.Ser112Leu	p.S112L	ENST00000341099	NM_001437.2	112	tCg/tTg	0	T:0	A:0	1	A:0		A	S/L	uc001xha.1	protein_coding	YES	CCDS9762.1			335/1593									central_nervous_system(2)|ovary(1)	3	c.(334-336)TCG>TTG			hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF1,Pfam_domain:PF12497,PIRSF_domain:PIRSF500102,PIRSF_domain:PIRSF002527	estrogen receptor beta isoform 1	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	A:0	T:0.0001	ENSP00000343925	A:0	9-Feb	0.000791						0.00112	0.00618	rs141516067,COSM3401402,COSM3401404,COSM3401403,COSM3401405	9-Feb	common_variant		ENST00000341099	Transcript		A:0.0016	cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	ENSG00000140009	g.chr14:64749369G>A	3468			MODERATE		1.525	low	getma.org/?cm=msa&ty=f&p=ESR2_HUMAN&rb=12&re=124&var=S112L	NA	getma.org/?cm=var&var=hg19,14,64749369,G,A&fts=all	S112L	--	--	1																																		ESR2_uc001xgu.2_Missense_Mutation_p.S112L|ESR2_uc001xgv.2_Missense_Mutation_p.S112L|ESR2_uc001xgw.2_RNA|ESR2_uc001xgx.2_Missense_Mutation_p.S112L|ESR2_uc001xgy.1_Missense_Mutation_p.S112L|ESR2_uc001xgz.1_Missense_Mutation_p.S112L|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Missense_Mutation_p.S112L	0,1,1,1,1	1		benign(0.032)	p.S112L	NM_001437	NP_001428	A:0.0082	tolerated(0.2)	0,1,1,1,1	ESR2_HUMAN	ESR2	HGNC	Q92731	ESR2_HUMAN		all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Q7LCB3_HUMAN,G3V5S2_HUMAN		2	803	-			UPI0000000964	112			Modulating.		SNV	ESR2,missense_variant,p.Ser112Leu,ENST00000557772,NM_001214903.1;ESR2,missense_variant,p.Ser112Leu,ENST00000554572,;ESR2,missense_variant,p.Ser112Leu,ENST00000542956,;ESR2,missense_variant,p.Ser112Leu,ENST00000556275,;ESR2,missense_variant,p.Ser112Leu,ENST00000353772,NM_001040275.1;ESR2,missense_variant,p.Ser112Leu,ENST00000341099,NM_001437.2;ESR2,missense_variant,p.Ser112Leu,ENST00000357782,;ESR2,missense_variant,p.Ser112Leu,ENST00000358599,;ESR2,missense_variant,p.Ser112Leu,ENST00000555278,NM_001214902.1;ESR2,missense_variant,p.Ser112Leu,ENST00000267525,NM_001271877.1;ESR2,missense_variant,p.Ser112Leu,ENST00000553796,NM_001271876.1;ESR2,non_coding_transcript_exon_variant,,ENST00000555483,;ESR2,non_coding_transcript_exon_variant,,ENST00000554520,;ESR2,missense_variant,p.Ser112Leu,ENST00000344288,;	uc001xha.1	c.335C>T	753/2060	1	1			c.335C>T						14	SNP	c.(334-336)TCG>TTG	64	64			central_nervous_system(2)|ovary(1)	3	Broad	estrogen receptor beta isoform 1		Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	64749369		0.448	ENSG00000140009	5172	g.chr14:64749369G>A	cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			196			196	227.57158	KEEP	62	36	-1	96	87	62	36	-1	233.374369	96	87	0.336066	1	0	0	0	0	1	0	0	0	--	--		0	A			ESR2_uc001xgu.2_Missense_Mutation_p.S112L|ESR2_uc001xgv.2_Missense_Mutation_p.S112L|ESR2_uc001xgw.2_RNA|ESR2_uc001xgx.2_Missense_Mutation_p.S112L|ESR2_uc001xgy.1_Missense_Mutation_p.S112L|ESR2_uc001xgz.1_Missense_Mutation_p.S112L|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Missense_Mutation_p.S112L	267	GBM-76-4927-TP	p.S112L	G	GTGTTCTAGCGATCTTGCTTC	NM_001437	NP_001428	64749369	Q92731	ESR2_HUMAN	0		all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	2	803	-	A	A			Missense_Mutation	112			Modulating.			
ESRP1	54845		GRCh37	8	95683852	95683852	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000433389.2:c.1405G>A	p.Ala469Thr	p.A469T	ENST00000433389	NM_001034915.2	469	Gcc/Acc	0																																																																																																																																																																																																																																												
ESRRB	2103	broad.mit.edu	GRCh37	14	76964704	76964704	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01	TCGA-06-0939-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380887.2:c.1205C>T	p.Thr402Met	p.T402M	ENST00000380887		402	aCg/aTg	0			1			T	T/M	uc001xsq.1	protein_coding	YES	CCDS9850.2			1205/1527									ovary(1)|skin(1)	2	c.(1204-1206)ACG>ATG			hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF23,Gene3D:1.10.565.10,Pfam_domain:PF00104,PIRSF_domain:PIRSF002527,PIRSF_domain:PIRSF500939,SMART_domains:SM00430,Superfamily_domains:SSF48508,Prints_domain:PR00398	estrogen-related receptor beta				ENSP00000370270		9-Jul									COSM2152437,COSM2152436	9-Jul	.		ENST00000380887	Transcript	1			nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	ENSG00000119715	g.chr14:76964704C>T	3473			MODERATE		1.485	low	getma.org/?cm=msa&ty=f&p=ERR2_HUMAN&rb=227&re=425&var=T402M	getma.org/pdb.php?prot=ERR2_HUMAN&from=227&to=425&var=T402M	getma.org/?cm=var&var=hg19,14,76964704,C,T&fts=all	T402M	--	--	1																																		ESRRB_uc001xsr.2_Missense_Mutation_p.T402M|ESRRB_uc001xso.2_RNA	1,1	1		probably_damaging(0.996)	p.T402M	NM_004452	NP_004443		deleterious(0.04)	1,1	ERR2_HUMAN	ESRRB	HGNC	A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	Q9HCB2_HUMAN		7	1272	+			UPI000003157B	402					SNV	ESRRB,missense_variant,p.Thr402Met,ENST00000380887,;ESRRB,missense_variant,p.Thr402Met,ENST00000509242,NM_004452.3;ESRRB,missense_variant,p.Thr407Met,ENST00000512784,;ESRRB,missense_variant,p.Thr402Met,ENST00000261532,;ESRRB,missense_variant,p.Thr402Met,ENST00000556177,;RP11-187O7.3,intron_variant,,ENST00000554926,;ESRRB,missense_variant,p.Thr402Met,ENST00000505752,;	uc001xsq.1	c.1205C>T	1277/2713	2	2			c.1205C>T						14	SNP	c.(1204-1206)ACG>ATG	48	48			ovary(1)|skin(1)	2	Broad	estrogen-related receptor beta			76964704		0.627	ENSG00000119715	5176	g.chr14:76964704C>T		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding							15.544877	KEEP	7	3	-1	13	10	7	3	-1	15.764713	13	10	0.375	1	0	0	0	0	1	0	0	0	--	--		0	T			ESRRB_uc001xsr.2_Missense_Mutation_p.T402M|ESRRB_uc001xso.2_RNA	78	GBM-06-0939-TP	p.T402M	C	CTGCGGCAGACGGCCGCCAAG	NM_004452	NP_004443	76964704	A2VDJ2	A2VDJ2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(234;0.0213)	7	1272	+	T	T			Missense_Mutation	402						
ESRRB	0	broad.mit.edu	GRCh37	14	76957925	76957925	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-14-1823-01	TCGA-14-1823-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380887.2:c.923A>C	p.Asp308Ala	p.D308A	ENST00000380887		308	gAt/gCt	0			1			C	D/A	uc001xsq.1	protein_coding	YES	CCDS9850.2			923/1527									ovary(1)|skin(1)	2	c.(922-924)GAT>GCT			hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF23,Gene3D:1.10.565.10,Pfam_domain:PF00104,PIRSF_domain:PIRSF002527,PIRSF_domain:PIRSF500939,SMART_domains:SM00430,Superfamily_domains:SSF48508	estrogen-related receptor beta				ENSP00000370270		9-Jun									COSM3401478,COSM3401477	9-Jun	.		ENST00000380887	Transcript	1			nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	ENSG00000119715	g.chr14:76957925A>C	3473			MODERATE		2.555	medium	getma.org/?cm=msa&ty=f&p=ERR2_HUMAN&rb=227&re=425&var=D308A	getma.org/pdb.php?prot=ERR2_HUMAN&from=227&to=425&var=D308A	getma.org/?cm=var&var=hg19,14,76957925,A,C&fts=all	D308A	--	--	1																																		ESRRB_uc001xsr.2_Missense_Mutation_p.D308A|ESRRB_uc001xso.2_RNA	1,1	1		possibly_damaging(0.826)	p.D308A	NM_004452	NP_004443		deleterious(0)	1,1	ERR2_HUMAN	ESRRB	HGNC	A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	Q9HCB2_HUMAN		6	990	+			UPI000003157B	308					SNV	ESRRB,missense_variant,p.Asp308Ala,ENST00000380887,;ESRRB,missense_variant,p.Asp308Ala,ENST00000509242,NM_004452.3;ESRRB,missense_variant,p.Asp313Ala,ENST00000512784,;ESRRB,missense_variant,p.Asp308Ala,ENST00000261532,;ESRRB,missense_variant,p.Asp308Ala,ENST00000556177,;RP11-187O7.3,downstream_gene_variant,,ENST00000554926,;ESRRB,missense_variant,p.Asp308Ala,ENST00000505752,;	uc001xsq.1	c.923A>C	995/2713	4	4			c.923A>C						14	SNP	c.(922-924)GAT>GCT	36	36			ovary(1)|skin(1)	2	Broad	estrogen-related receptor beta			76957925		0.592	ENSG00000119715	5176	g.chr14:76957925A>C		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding							18.443654	KEEP	3	3	-1	5	10	3	3	-1	18.886639	5	10	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	C			ESRRB_uc001xsr.2_Missense_Mutation_p.D308A|ESRRB_uc001xso.2_RNA	147	GBM-14-1823-TP	p.D308A	A	TACATCATGGATGAGGAGCAC	NM_004452	NP_004443	76957925	A2VDJ2	A2VDJ2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(234;0.0213)	6	990	+	C	C			Missense_Mutation	308						
ESRRG	0	broad.mit.edu	GRCh37	1	216737723	216737723	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G			TCGA-19-2619-01	TCGA-19-2619-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408911.3:c.701-1G>C		p.X234_splice	ENST00000408911	NM_001438.3			0			1			G		uc001hkw.1	protein_coding		CCDS41468.1			701/1377									ovary(1)|kidney(1)	2	c.e5-1				estrogen-related receptor gamma isoform 1	Diethylstilbestrol(DB00255)			ENSP00000386171											COSM2156182,COSM3400331		.		ENST00000408911	Transcript			positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	ENSG00000196482	g.chr1:216737723C>G	3474			HIGH	6-Apr							--	--	1																																		ESRRG_uc001hky.1_Splice_Site_p.Y211_splice|ESRRG_uc009xdp.1_Splice_Site_p.Y211_splice|ESRRG_uc001hkz.1_Splice_Site_p.Y172_splice|ESRRG_uc010puc.1_Splice_Site_p.Y211_splice|ESRRG_uc001hla.1_Splice_Site_p.Y211_splice|ESRRG_uc001hlb.1_Splice_Site_p.Y211_splice|ESRRG_uc010pud.1_Splice_Site_p.Y42_splice|ESRRG_uc001hlc.1_Splice_Site_p.Y211_splice|ESRRG_uc001hld.1_Splice_Site_p.Y211_splice|ESRRG_uc001hkx.1_Missense_Mutation_p.D246H|ESRRG_uc009xdo.1_Splice_Site_p.Y211_splice|ESRRG_uc001hle.1_Splice_Site_p.Y211_splice	1,1				p.Y234_splice	NM_001438	NP_001429			1,1	ERR3_HUMAN	ESRRG	HGNC	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	F1D8R6_HUMAN,F1D8R5_HUMAN,C9JU32_HUMAN,C9JNX5_HUMAN,C9J5W9_HUMAN,C9J0E3_HUMAN,B7Z5E9_HUMAN		5	867	-			UPI00000272E7						SNV	ESRRG,splice_acceptor_variant,,ENST00000360012,NM_001243514.1;ESRRG,splice_acceptor_variant,,ENST00000361525,NM_206594.2,NM_001243505.1;ESRRG,splice_acceptor_variant,,ENST00000366940,NM_001134285.2;ESRRG,splice_acceptor_variant,,ENST00000493603,;ESRRG,splice_acceptor_variant,,ENST00000366938,NM_001243513.1;ESRRG,splice_acceptor_variant,,ENST00000361395,NM_001243510.1;ESRRG,splice_acceptor_variant,,ENST00000408911,NM_001438.3;ESRRG,splice_acceptor_variant,,ENST00000359162,NM_001243506.1,NM_001243511.1,NM_206595.2;ESRRG,splice_acceptor_variant,,ENST00000463665,NM_001243507.1;ESRRG,splice_acceptor_variant,,ENST00000487276,NM_001243512.1;ESRRG,splice_acceptor_variant,,ENST00000493748,NM_001243509.1;ESRRG,splice_acceptor_variant,,ENST00000475275,;ESRRG,missense_variant,p.Asp218His,ENST00000391890,NM_001243515.1,NM_001243519.1;ESRRG,missense_variant,p.Asp246His,ENST00000366937,NM_001243518.1;ESRRG,downstream_gene_variant,,ENST00000586199,;	uc001hkw.1	c.701_splice	-/5216	5	3			c.701_splice						1	SNP	c.e5-1	1	1			ovary(1)|kidney(1)	2	Broad	estrogen-related receptor gamma isoform 1		Diethylstilbestrol(DB00255)	216737723		0.433	ENSG00000196482	5177	g.chr1:216737723C>G	positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding							125.240072	KEEP	27	16	-1	40	44	27	16	-1	127.846252	40	44	0.336364	1	0	0	0	0	0	0	0	1	--	--		0	G			ESRRG_uc001hky.1_Splice_Site_p.Y211_splice|ESRRG_uc009xdp.1_Splice_Site_p.Y211_splice|ESRRG_uc001hkz.1_Splice_Site_p.Y172_splice|ESRRG_uc010puc.1_Splice_Site_p.Y211_splice|ESRRG_uc001hla.1_Splice_Site_p.Y211_splice|ESRRG_uc001hlb.1_Splice_Site_p.Y211_splice|ESRRG_uc010pud.1_Splice_Site_p.Y42_splice|ESRRG_uc001hlc.1_Splice_Site_p.Y211_splice|ESRRG_uc001hld.1_Splice_Site_p.Y211_splice|ESRRG_uc001hkx.1_Missense_Mutation_p.D246H|ESRRG_uc009xdo.1_Splice_Site_p.Y211_splice|ESRRG_uc001hle.1_Splice_Site_p.Y211_splice	161	GBM-19-2619-TP	p.Y234_splice	C	ATCTTGTTATCTGCAGGATCA	NM_001438	NP_001429	216737723	P62508	ERR3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	5	867	-	G	G			Splice_Site							
ESX1	80712	broad.mit.edu	GRCh37	X	103499199	103499199	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372588.4:c.142C>T	p.Arg48Trp	p.R48W	ENST00000372588	NM_153448.3	48	Cgg/Tgg	0			1			A	R/W	uc004ely.2	protein_coding	YES	CCDS14516.1			142/1221									ovary(1)	1	c.(142-144)CGG>TGG				extraembryonic, spermatogenesis, homeobox				ENSP00000361669		4-Feb									COSM1464591	4-Feb	.		ENST00000372588	Transcript			negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000123576	g.chrX:103499199G>A	14865			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=ESX1_HUMAN&rb=1&re=139&var=R48W	NA	getma.org/?cm=var&var=hg19,X,103499199,G,A&fts=all	R48W	--	--	1																																			1	1		benign(0.428)	p.R48W	NM_153448	NP_703149		deleterious_low_confidence(0.03)	1	ESX1_HUMAN	ESX1	HGNC	Q8N693	ESX1_HUMAN			A6ZIU4_HUMAN,A6ZIT2_HUMAN		2	200	-			UPI0000073D09	48					SNV	ESX1,missense_variant,p.Arg48Trp,ENST00000372588,NM_153448.3;	uc004ely.2	c.142C>T	226/1495	1	1			c.142C>T						23	SNP	c.(142-144)CGG>TGG	52	52			ovary(1)	1	Broad	extraembryonic, spermatogenesis, homeobox			103499199		0.587	ENSG00000123576	5178	g.chrX:103499199G>A	negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	Pancreas(200;1705 2227 25194 28471 45274)			Pancreas(200;1705 2227 25194 28471 45274)			534.772484	KEEP	113	95	-1	138	144	113	95	-1	537.217181	138	144	0.418824	1	0	0	0	0	1	0	0	0	--	--		0	A				12	GBM-06-0125-TP	p.R48W	G	GGTTTGGACCGTGTATTCTCC	NM_153448	NP_703149	103499199	Q8N693	ESX1_HUMAN	0			2	200	-	A	A			Missense_Mutation	48						
ESX1	0	broad.mit.edu	GRCh37	X	103495282	103495282	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01	TCGA-32-4210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372588.4:c.848C>T	p.Ala283Val	p.A283V	ENST00000372588	NM_153448.3	283	gCg/gTg	0			1			A	A/V	uc004ely.2	protein_coding	YES	CCDS14516.1			848/1221									ovary(1)	1	c.(847-849)GCG>GTG			Low_complexity_(Seg):seg,hmmpanther:PTHR24329:SF286,hmmpanther:PTHR24329	extraembryonic, spermatogenesis, homeobox				ENSP00000361669		4-Apr	2.48E-05					6.71E-05			rs782128803,COSM3405793	4-Apr	.		ENST00000372588	Transcript			negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000123576	g.chrX:103495282G>A	14865			MODERATE		1.345	low	getma.org/?cm=msa&ty=f&p=ESX1_HUMAN&rb=197&re=370&var=A283V	NA	getma.org/?cm=var&var=hg19,X,103495282,G,A&fts=all	A283V	--	--	1																																			0,1	1		unknown(0)	p.A283V	NM_153448	NP_703149		tolerated(0.06)	0,1	ESX1_HUMAN	ESX1	HGNC	Q8N693	ESX1_HUMAN			A6ZIU4_HUMAN,A6ZIT2_HUMAN		4	906	-			UPI0000073D09	283			5.|15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.		SNV	ESX1,missense_variant,p.Ala283Val,ENST00000372588,NM_153448.3;	uc004ely.2	c.848C>T	932/1495	2	2			c.848C>T						23	SNP	c.(847-849)GCG>GTG	47	47			ovary(1)	1	Broad	extraembryonic, spermatogenesis, homeobox			103495282		0.498	ENSG00000123576	5178	g.chrX:103495282G>A	negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	Pancreas(200;1705 2227 25194 28471 45274)			Pancreas(200;1705 2227 25194 28471 45274)			318.393258	KEEP	50	61	-1	4	1	50	61	-1	328.399724	4	1	0.951456	1	0	0	0	0	1	0	0	0	--	--		0	A				245	GBM-32-4210-TP	p.A283V	G	TGGCACAGGCGCCATGCGTGA	NM_153448	NP_703149	103495282	Q8N693	ESX1_HUMAN	0			4	906	-	A	A			Missense_Mutation	283			5.|15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.			
ESYT1	0	broad.mit.edu	GRCh37	12	56536179	56536179	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-12-3652-01	TCGA-12-3652-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394048.5:c.2703G>T	p.Gln901His	p.Q901H	ENST00000394048	NM_001184796.1	901	caG/caT	0			1			T	Q/H	uc001sjq.2	protein_coding		CCDS8904.1			2703/3315									ovary(4)|skin(1)	5	c.(2701-2703)CAG>CAT			Gene3D:2.60.40.150,hmmpanther:PTHR10774,hmmpanther:PTHR10774:SF26,Superfamily_domains:SSF49562	extended synaptotagmin-like protein 1				ENSP00000377612		25/31									COSM3398888,COSM3398887	25/31	.		ENST00000394048	Transcript				integral to membrane		ENSG00000139641	g.chr12:56536179G>T	29534			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=ESYT1_HUMAN&rb=876&re=987&var=Q901H	NA	getma.org/?cm=var&var=hg19,12,56536179,G,T&fts=all	Q901H	--	--	1																																		ESYT1_uc001sjr.2_Missense_Mutation_p.Q911H	1,1			benign(0.227)	p.Q901H	NM_015292	NP_056107		tolerated(0.05)	1,1	ESYT1_HUMAN	ESYT1	HGNC	Q9BSJ8	ESYT1_HUMAN			F8VZB1_HUMAN		25	2753	+			UPI000003E7DD	901					SNV	ESYT1,missense_variant,p.Gln901His,ENST00000394048,NM_001184796.1,NM_015292.2;ESYT1,missense_variant,p.Gln911His,ENST00000541590,;ESYT1,missense_variant,p.Gln911His,ENST00000267113,;ESYT1,intron_variant,,ENST00000550878,;ESYT1,non_coding_transcript_exon_variant,,ENST00000548142,;ESYT1,non_coding_transcript_exon_variant,,ENST00000551112,;ESYT1,upstream_gene_variant,,ENST00000550515,;ESYT1,downstream_gene_variant,,ENST00000547667,;	uc001sjq.2	c.2703G>T	2967/4388	1	1			c.2703G>T						12	SNP	c.(2701-2703)CAG>CAT	3	3			ovary(4)|skin(1)	5	Broad	extended synaptotagmin-like protein 1			56536179		0.622	ENSG00000139641	5179	g.chr12:56536179G>T		integral to membrane								124.587947	KEEP	23	19	0.547619048	27	24	23	19	0.547619048	124.830103	27	24	0.444444	1	0	0	0	0	1	0	0	0	--	--		0	T			ESYT1_uc001sjr.2_Missense_Mutation_p.Q911H	127	GBM-12-3652-TP	p.Q901H	G	GCAGTGGTCAGGGGCAGGTGC	NM_015292	NP_056107	56536179	Q9BSJ8	ESYT1_HUMAN	0			25	2753	+	T	T			Missense_Mutation	901						
ETAA1	0	broad.mit.edu	GRCh37	2	67631223	67631226	+	frameshift_variant	Frame_Shift_Del	DEL	CAAA	CAAA	-			TCGA-76-4928-01	TCGA-76-4928-01	CAAA	CAAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000272342.5:c.1413_1416delCAAA	p.Lys472TyrfsTer7	p.K472Yfs*7	ENST00000272342	NM_019002.3	470	tCAAAc/tc	0			1			-	SN/X	uc002sdz.1	protein_coding	YES	CCDS1882.1			1409-1412/2781									ovary(3)|large_intestine(1)	4	c.(1408-1413)TCAAACfs			hmmpanther:PTHR16434:SF1,hmmpanther:PTHR16434,Pfam_domain:PF15350	ETAA16 protein				ENSP00000272342		6-May										6-May	.		ENST00000272342	Transcript				cytoplasm|nucleus		ENSG00000143971	g.chr2:67631223_67631226delCAAA	24648	4		HIGH								--	--	1																																				1			p.S470fs	NM_019002	NP_061875				ETAA1_HUMAN	ETAA1	HGNC	Q9NY74	ETAA1_HUMAN					5	1548_1551	+			UPI00001414BC	470_471					deletion	ETAA1,frameshift_variant,p.Lys472TyrfsTer7,ENST00000272342,NM_019002.3;ETAA1,intron_variant,,ENST00000462772,;	uc002sdz.1	c.1409_1412delCAAA	1539-1542/3418	5	5			c.1409_1412delCAAA						2	DEL	c.(1408-1413)TCAAACfs	24	24			ovary(3)|large_intestine(1)	4	Broad	ETAA16 protein			67631226		0.265	ENSG00000143971	5182	g.chr2:67631223_67631226delCAAA		cytoplasm|nucleus																					0.21	1	1	0	1	0	0	0	0	0	--	--		0	-				268	GBM-76-4928-TP	p.S470fs	CAAA	TCAAATAAATCAAACAAATTATCC	NM_019002	NP_061875	67631223	Q9NY74	ETAA1_HUMAN	0			5	1548_1551	+	-	-			Frame_Shift_Del	470_471						
ETF1	2107	broad.mit.edu	GRCh37	5	137848498	137848498	+	synonymous_variant	Silent	SNP	G	G	T	rs145474099	byFrequency	TCGA-06-0209-01	TCGA-06-0209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360541.5:c.687C>A	p.Ser229=	p.S229=	ENST00000360541	NM_004730.3	229	tcC/tcA	0			1			T	S	uc003ldc.3	protein_coding	YES	CCDS4207.1			687/1314									ovary(2)	2	c.(685-687)TCC>TCA			hmmpanther:PTHR10113,hmmpanther:PTHR10113:SF7,Gene3D:1dt9A02,TIGRFAM_domain:TIGR03676,Pfam_domain:PF03464,Superfamily_domains:SSF53137	eukaryotic translation termination factor 1				ENSP00000353741		11-Jun									COSM3237459	11-Jun	.		ENST00000360541	Transcript			nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific	ENSG00000120705	g.chr5:137848498G>T	3477			LOW								--	--	1																																		ETF1_uc011cyv.1_Silent_p.S215S|ETF1_uc010jex.2_RNA|ETF1_uc003ldd.3_Silent_p.S196S|ETF1_uc010jey.1_Silent_p.S35S	1	1			p.S229S	NM_004730	NP_004721			1	ERF1_HUMAN	ETF1	HGNC	P62495	ERF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Q96CG1_HUMAN,I3L492_HUMAN,D6RJE8_HUMAN		6	852	-			UPI00001110CB	229					SNV	ETF1,synonymous_variant,p.=,ENST00000499810,NM_001282185.1,NM_001256302.1;ETF1,synonymous_variant,p.=,ENST00000360541,NM_004730.3;ETF1,synonymous_variant,p.=,ENST00000503014,;ETF1,synonymous_variant,p.=,ENST00000572514,;ETF1,downstream_gene_variant,,ENST00000507939,;ETF1,downstream_gene_variant,,ENST00000514005,;ETF1,3_prime_UTR_variant,,ENST00000512198,;ETF1,non_coding_transcript_exon_variant,,ENST00000506345,;ETF1,non_coding_transcript_exon_variant,,ENST00000503183,;	uc003ldc.3	c.687C>A	909/3742	2	2			c.687C>A						5	SNP	c.(685-687)TCC>TCA	32	32			ovary(2)	2	Broad	eukaryotic translation termination factor 1			137848498		0.403	ENSG00000120705	5183	g.chr5:137848498G>T	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific							28.856002	KEEP	8	11	0.421052632	60	70	8	11	0.421052632	48.148845	60	70	0.126761	1	0	0	0	0	0	0	1	0	--	--		0	T			ETF1_uc011cyv.1_Silent_p.S215S|ETF1_uc010jex.2_RNA|ETF1_uc003ldd.3_Silent_p.S196S|ETF1_uc010jey.1_Silent_p.S35S	46	GBM-06-0209-TP	p.S229S	G	TAAAGTCAGCGGATCCAGCTA	NM_004730	NP_004721	137848498	P62495	ERF1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		6	852	-	T	T			Silent	229						
ETF1	0	broad.mit.edu	GRCh37	5	137846888	137846888	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C			TCGA-14-1829-01	TCGA-14-1829-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360541.5:c.864A>G	p.Gly288=	p.G288=	ENST00000360541	NM_004730.3	288	ggA/ggG	0			1			C	G	uc003ldc.3	protein_coding	YES	CCDS4207.1			864/1314									ovary(2)	2	c.(862-864)GGA>GGG			hmmpanther:PTHR10113,hmmpanther:PTHR10113:SF7,Gene3D:3.30.1330.30,Pfam_domain:PF03465,TIGRFAM_domain:TIGR03676,Superfamily_domains:SSF55315	eukaryotic translation termination factor 1				ENSP00000353741		11-Aug	8.24E-06	9.72E-05							rs776841173,COSM3409764	11-Aug	.		ENST00000360541	Transcript			nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific	ENSG00000120705	g.chr5:137846888T>C	3477			LOW								--	--	1																																		ETF1_uc011cyv.1_Silent_p.G274G|ETF1_uc010jex.2_RNA|ETF1_uc003ldd.3_Silent_p.G255G	0,1	1			p.G288G	NM_004730	NP_004721			0,1	ERF1_HUMAN	ETF1	HGNC	P62495	ERF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Q96CG1_HUMAN,I3L492_HUMAN,D6RJE8_HUMAN		8	1029	-			UPI00001110CB	288					SNV	ETF1,splice_region_variant,p.=,ENST00000499810,NM_001282185.1,NM_001256302.1;ETF1,splice_region_variant,p.=,ENST00000360541,NM_004730.3;ETF1,splice_region_variant,p.=,ENST00000503014,;ETF1,downstream_gene_variant,,ENST00000572514,;ETF1,downstream_gene_variant,,ENST00000507939,;ETF1,non_coding_transcript_exon_variant,,ENST00000506345,;ETF1,downstream_gene_variant,,ENST00000512198,;ETF1,downstream_gene_variant,,ENST00000503183,;	uc003ldc.3	c.864A>G	1086/3742	4	4			c.864A>G						5	SNP	c.(862-864)GGA>GGG	33	33			ovary(2)	2	Broad	eukaryotic translation termination factor 1			137846888		0.368	ENSG00000120705	5183	g.chr5:137846888T>C	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific							224.468756	KEEP	38	37	-1	40	53	38	37	-1	225.115269	40	53	0.42953	1	0	0	0	0	0	0	1	0	--	--		0	C			ETF1_uc011cyv.1_Silent_p.G274G|ETF1_uc010jex.2_RNA|ETF1_uc003ldd.3_Silent_p.G255G	149	GBM-14-1829-TP	p.G288G	T	CAAAGTATCGTCCTACGATTA	NM_004730	NP_004721	137846888	P62495	ERF1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		8	1029	-	C	C			Silent	288						
ETFDH	0	broad.mit.edu	GRCh37	4	159603468	159603468	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-26-5133-01	TCGA-26-5133-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000511912.1:c.297T>C	p.Arg99=	p.R99=	ENST00000511912	NM_004453.2	99	cgT/cgC	0			1			C	R	uc003iqb.2	protein_coding	YES	CCDS3800.1			297/1854									large_intestine(2)|skin(1)	3	c.(295-297)CGT>CGC			Superfamily_domains:SSF51905,Pfam_domain:PF13450,Gene3D:3.50.50.60,hmmpanther:PTHR10617,hmmpanther:PTHR10617:SF98	electron-transferring-flavoprotein dehydrogenase				ENSP00000426638		13-Mar									COSM3409137	13-Mar	.		ENST00000511912	Transcript	1		fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding	ENSG00000171503	g.chr4:159603468T>C	3483			LOW								--	--	1																																		ETFDH_uc011cjg.1_Silent_p.R52R|ETFDH_uc010iqr.2_Intron|ETFDH_uc011cjh.1_Silent_p.R38R|ETFDH_uc010iqs.2_Silent_p.R38R	1	1			p.R99R	NM_004453	NP_004444			1	ETFD_HUMAN	ETFDH	HGNC	Q16134	ETFD_HUMAN		COAD - Colon adenocarcinoma(41;0.0172)	D6RAD5_HUMAN,B4DEQ0_HUMAN		3	629	+	all_hematologic(180;0.24)	Renal(120;0.0458)	UPI000013EC48	99					SNV	ETFDH,synonymous_variant,p.=,ENST00000511912,NM_004453.2,NM_001281738.1;ETFDH,synonymous_variant,p.=,ENST00000307738,NM_001281737.1;ETFDH,intron_variant,,ENST00000507475,;ETFDH,downstream_gene_variant,,ENST00000512251,;ETFDH,non_coding_transcript_exon_variant,,ENST00000436096,;ETFDH,intron_variant,,ENST00000506422,;ETFDH,downstream_gene_variant,,ENST00000510353,;ETFDH,non_coding_transcript_exon_variant,,ENST00000514148,;	uc003iqb.2	c.297T>C	629/3282	4	4			c.297T>C						4	SNP	c.(295-297)CGT>CGC	35	35			large_intestine(2)|skin(1)	3	Broad	electron-transferring-flavoprotein dehydrogenase			159603468		0.502	ENSG00000171503	5186	g.chr4:159603468T>C	fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding							-20.892368	KEEP	15	10	-1	189	178	15	10	-1	51.078576	189	178	0.065395	1	0	0	0	0	0	0	1	0	--	--		0	C			ETFDH_uc011cjg.1_Silent_p.R52R|ETFDH_uc010iqr.2_Intron|ETFDH_uc011cjh.1_Silent_p.R38R|ETFDH_uc010iqs.2_Silent_p.R38R	182	GBM-26-5133-TP	p.R99R	T	AGGACATCCGTGTGTGTCTAG	NM_004453	NP_004444	159603468	Q16134	ETFD_HUMAN	0		COAD - Colon adenocarcinoma(41;0.0172)	3	629	+	C	C	all_hematologic(180;0.24)	Renal(120;0.0458)	Silent	99						
ETHE1	23474		GRCh37	19	44015698	44015698	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000292147.2:c.396C>T	p.Ser132=	p.S132=	ENST00000292147	NM_014297.3	132	agC/agT	0																																																																																																																																																																																																																																												
ETNK1	55500	broad.mit.edu	GRCh37	12	22778163	22778163	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-06-0646-01	TCGA-06-0646-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266517.4:c.66C>G	p.Leu22=	p.L22=	ENST00000266517	NM_018638.4	22	ctC/ctG	0			1			G	L	uc001rft.2	protein_coding	YES	CCDS8698.1			66/1359										0	c.(64-66)CTC>CTG				ethanolamine kinase 1 isoform A				ENSP00000266517		8-Jan									COSM2151316,COSM2151317	8-Jan	.		ENST00000266517	Transcript			phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity	ENSG00000139163	g.chr12:22778163C>G	24649			LOW								--	--	1																																		ETNK1_uc009ziz.2_Silent_p.L22L|ETNK1_uc001rfs.2_Silent_p.L22L	1,1	1			p.L22L	NM_018638	NP_061108			1,1	EKI1_HUMAN	ETNK1	HGNC	Q9HBU6	EKI1_HUMAN					1	88	+			UPI0000129E2F	22					SNV	ETNK1,synonymous_variant,p.=,ENST00000266517,NM_018638.4;ETNK1,synonymous_variant,p.=,ENST00000538218,;ETNK1,synonymous_variant,p.=,ENST00000335148,NM_001039481.1;ETNK1,upstream_gene_variant,,ENST00000545979,;RP11-268P4.4,upstream_gene_variant,,ENST00000542076,;	uc001rft.2	c.66C>G	155/7159	3	3			c.66C>G						12	SNP	c.(64-66)CTC>CTG	11	11				0	Broad	ethanolamine kinase 1 isoform A			22778163		0.726	ENSG00000139163	5188	g.chr12:22778163C>G	phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity	Esophageal Squamous(42;87 913 3224 6226 43339)			Esophageal Squamous(42;87 913 3224 6226 43339)			53.600119	KEEP	7	9	-1	12	10	7	9	-1	53.655472	12	10	0.457143	1	0	0	0	0	0	0	1	0	--	--		0	G			ETNK1_uc009ziz.2_Silent_p.L22L|ETNK1_uc001rfs.2_Silent_p.L22L	60	GBM-06-0646-TP	p.L22L	C	GGGCCGGGCTCAGTTCAGCTG	NM_018638	NP_061108	22778163	Q9HBU6	EKI1_HUMAN	0			1	88	+	G	G			Silent	22						
ETNPPL	0	broad.mit.edu	GRCh37	4	109667553	109667553	+	splice_donor_variant	Splice_Site	SNP	A	A	G			TCGA-28-2514-01	TCGA-28-2514-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296486.3:c.1303+2T>C		p.X435_splice	ENST00000296486	NM_031279.3			0			1			G		uc003hzc.2	protein_coding	YES	CCDS3682.1			1303/1500									ovary(1)	1	c.e11+1				alanine-glyoxylate aminotransferase 2-like 1				ENSP00000296486											COSM3408977		.		ENST00000296486	Transcript			cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	ENSG00000164089	g.chr4:109667553A>G	14404			HIGH	12-Nov							--	--	1																																		AGXT2L1_uc010imc.2_Splice_Site_p.V429_splice|AGXT2L1_uc011cfm.1_Splice_Site_p.V395_splice|AGXT2L1_uc011cfn.1_Splice_Site_p.V362_splice|AGXT2L1_uc011cfo.1_Splice_Site_p.V377_splice	1	1			p.V435_splice	NM_031279	NP_112569			1	AT2L1_HUMAN	ETNPPL	HGNC	Q8TBG4	AT2L1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000281)	E7ENR6_HUMAN,D6RGG2_HUMAN		11	1484	-			UPI000004B638						SNV	ETNPPL,splice_donor_variant,,ENST00000296486,NM_031279.3,NM_001146590.1;ETNPPL,splice_donor_variant,,ENST00000411864,;ETNPPL,splice_donor_variant,,ENST00000510706,;ETNPPL,splice_donor_variant,,ENST00000512646,NM_001146627.1;ETNPPL,downstream_gene_variant,,ENST00000505233,;ETNPPL,downstream_gene_variant,,ENST00000503912,;	uc003hzc.2	c.1303_splice	-/2099	5	3			c.1303_splice						4	SNP	c.e11+1	8	8			ovary(1)	1	Broad	alanine-glyoxylate aminotransferase 2-like 1			109667553		0.413	ENSG00000164089	402	g.chr4:109667553A>G	cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding							77.16389	KEEP	19	13	-1	32	39	19	13	-1	80.596796	32	39	0.297872	1	0	0	0	0	0	0	0	1	--	--		0	G			AGXT2L1_uc010imc.2_Splice_Site_p.V429_splice|AGXT2L1_uc011cfm.1_Splice_Site_p.V395_splice|AGXT2L1_uc011cfn.1_Splice_Site_p.V362_splice|AGXT2L1_uc011cfo.1_Splice_Site_p.V377_splice	214	GBM-28-2514-TP	p.V435_splice	A	CCATGGACCCACCTGTTAGAA	NM_031279	NP_112569	109667553	Q8TBG4	AT2L1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;0.000281)	11	1484	-	G	G			Splice_Site							
ETNPPL	0	broad.mit.edu	GRCh37	4	109667592	109667592	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-76-6192-01	TCGA-76-6192-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296486.3:c.1266A>G	p.Ala422=	p.A422=	ENST00000296486	NM_031279.3	422	gcA/gcG	0	C:0		1			C	A	uc003hzc.2	protein_coding	YES	CCDS3682.1			1266/1500									ovary(1)	1	c.(1264-1266)GCA>GCG			Gene3D:3.90.1150.10,PIRSF_domain:PIRSF000521,hmmpanther:PTHR11986,hmmpanther:PTHR11986:SF63,Superfamily_domains:SSF53383	alanine-glyoxylate aminotransferase 2-like 1			C:0.0001	ENSP00000296486		13-Nov	8.24E-06					1.50E-05			rs372406167,COSM3408978	13-Nov	.		ENST00000296486	Transcript			cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	ENSG00000164089	g.chr4:109667592T>C	14404			LOW								--	--	1																																		AGXT2L1_uc010imc.2_Silent_p.A416A|AGXT2L1_uc011cfm.1_Silent_p.A382A|AGXT2L1_uc011cfn.1_Silent_p.A349A|AGXT2L1_uc011cfo.1_Silent_p.A364A	0,1	1			p.A422A	NM_031279	NP_112569			0,1	AT2L1_HUMAN	ETNPPL	HGNC	Q8TBG4	AT2L1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000281)	E7ENR6_HUMAN,D6RGG2_HUMAN		11	1447	-			UPI000004B638	422					SNV	ETNPPL,synonymous_variant,p.=,ENST00000296486,NM_031279.3,NM_001146590.1;ETNPPL,synonymous_variant,p.=,ENST00000411864,;ETNPPL,synonymous_variant,p.=,ENST00000510706,;ETNPPL,synonymous_variant,p.=,ENST00000512646,NM_001146627.1;ETNPPL,downstream_gene_variant,,ENST00000505233,;ETNPPL,downstream_gene_variant,,ENST00000503912,;	uc003hzc.2	c.1266A>G	1421/2099	3	3			c.1266A>G						4	SNP	c.(1264-1266)GCA>GCG	57	57			ovary(1)	1	Broad	alanine-glyoxylate aminotransferase 2-like 1			109667592		0.423	ENSG00000164089	402	g.chr4:109667592T>C	cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding							32.172245	KEEP	6	7	-1	16	28	6	7	-1	35.627627	16	28	0.230769	1	0	0	0	0	0	0	1	0	--	--		0	C			AGXT2L1_uc010imc.2_Silent_p.A416A|AGXT2L1_uc011cfm.1_Silent_p.A382A|AGXT2L1_uc011cfn.1_Silent_p.A349A|AGXT2L1_uc011cfo.1_Silent_p.A364A	275	GBM-76-6192-TP	p.A422A	T	CCATGAACTTTGCATCTTCTT	NM_031279	NP_112569	109667592	Q8TBG4	AT2L1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;0.000281)	11	1447	-	C	C			Silent	422						
ETS1	0	broad.mit.edu	GRCh37	11	128426243	128426243	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-41-3393-01	TCGA-41-3393-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392668.4:c.157T>C	p.Phe53Leu	p.F53L	ENST00000392668	NM_001143820.1	53	Ttt/Ctt	0			1			G	F/L	uc001qej.2	protein_coding	YES	CCDS44767.1			157/1458									lung(4)|central_nervous_system(1)|pleura(1)	6	c.(157-159)TTT>CTT			PIRSF_domain:PIRSF001698,hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF46	v-ets erythroblastosis virus E26 oncogene				ENSP00000376436		10-Mar									COSM1507257	10-Mar	.		ENST00000392668	Transcript			cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	ENSG00000134954	g.chr11:128426243A>G	3488			MODERATE								--	--	1																																			1	1		benign(0)	p.F53L	NM_001143820	NP_001137292		tolerated(1)	1	ETS1_HUMAN	ETS1	HGNC	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)			3	242	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	UPI00001BDB62	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					SNV	ETS1,missense_variant,p.Phe53Leu,ENST00000392668,NM_001143820.1;ETS1,non_coding_transcript_exon_variant,,ENST00000525404,;	uc001qej.2	c.157T>C	242/5139	3	3			c.157T>C						11	SNP	c.(157-159)TTT>CTT	13	13			lung(4)|central_nervous_system(1)|pleura(1)	6	Broad	v-ets erythroblastosis virus E26 oncogene			128426243		0.448	ENSG00000134954	5190	g.chr11:128426243A>G	cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding							-30.108832	KEEP	2	1	-1	67	77	2	1	-1	6.610646	67	77	0.020979	1	0	0	0	0	1	0	0	0	--	--		0	G				255	GBM-41-3393-TP	p.F53L	A	TCATCCCAAAAGGGGTAGCAA	NM_001143820	NP_001137292	128426243	P14921	ETS1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	3	242	-	G	G	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	Missense_Mutation	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						
ETV3L	440695	broad.mit.edu	GRCh37	1	157068567	157068567	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-0126-01	TCGA-06-0126-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000454449.2:c.417C>A	p.Ser139=	p.S139=	ENST00000454449	NM_001004341.2	139	tcC/tcA	0			1			T	S	uc001fqq.1	protein_coding	YES	CCDS30893.1			417/1086									ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	c.(415-417)TCC>TCA			hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF163,Superfamily_domains:SSF46785	ets variant 3-like				ENSP00000430271		5-Mar									COSM3399825,COSM3399826	5-Mar	.		ENST00000454449	Transcript				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000253831	g.chr1:157068567G>T	33834			LOW								--	--	1																																			1,1	1			p.S139S	NM_001004341	NP_001004341			1,1	ETV3L_HUMAN	ETV3L	HGNC	Q6ZN32	ETV3L_HUMAN					3	702	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)	UPI000035E7AE	139					SNV	ETV3L,synonymous_variant,p.=,ENST00000454449,NM_001004341.2;	uc001fqq.1	c.417C>A	702/1976	1	1			c.417C>A						1	SNP	c.(415-417)TCC>TCA	12	12			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Broad	ets variant 3-like			157068567		0.602	ENSG00000253831	5195	g.chr1:157068567G>T		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							144.364166	KEEP	31	32	0.492063492	39	44	31	32	0.492063492	144.942437	39	44	0.430657	1	0	0	0	0	0	0	1	0	--	--		0	T				13	GBM-06-0126-TP	p.S139S	G	GCAAGTGGGGGGATGGCGGCG	NM_001004341	NP_001004341	157068567	Q6ZN32	ETV3L_HUMAN	0			3	702	-	T	T	Hepatocellular(266;0.158)	Prostate(1639;0.184)	Silent	139						
ETV4	0	broad.mit.edu	GRCh37	17	41610118	41610118	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-14-1043-01	TCGA-14-1043-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319349.5:c.735T>G	p.Gly245=	p.G245=	ENST00000319349	NM_001079675.2	245	ggT/ggG	0			1			C	G	uc002idw.2	protein_coding	YES	CCDS11465.1			735/1455	T		EWSR1|TMPRSS2|DDX5|KLK2|CANT1		Ewing sarcoma|Prostate carcinoma		EWSR1/ETV4(6)		bone(4)|soft_tissue(2)|ovary(1)	7	c.(733-735)GGT>GGG			Pfam_domain:PF04621,hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF181	ets variant gene 4 (E1A enhancer binding				ENSP00000321835		13-Aug									COSM1521469	13-Aug	.		ENST00000319349	Transcript	1		positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000175832	g.chr17:41610118A>C	3493			LOW								--	--	1																																		ETV4_uc002idv.2_5'Flank|ETV4_uc010wih.1_Silent_p.G191G|ETV4_uc010czh.2_Silent_p.G244G|ETV4_uc010wii.1_Silent_p.G206G|ETV4_uc002idx.2_Silent_p.G245G|ETV4_uc010wij.1_Silent_p.G206G	1	1			p.G245G	NM_001986	NP_001977			1	ETV4_HUMAN	ETV4	HGNC	P43268	ETV4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0798)	K7EMW0_HUMAN		8	863	-		Breast(137;0.00908)	UPI0000000236	245					SNV	ETV4,synonymous_variant,p.=,ENST00000319349,NM_001079675.2;ETV4,synonymous_variant,p.=,ENST00000393664,;ETV4,synonymous_variant,p.=,ENST00000538265,NM_001261438.1;ETV4,synonymous_variant,p.=,ENST00000545954,NM_001261437.1;ETV4,synonymous_variant,p.=,ENST00000591713,NM_001986.2;ETV4,synonymous_variant,p.=,ENST00000545089,;DHX8,intron_variant,,ENST00000589898,;ETV4,upstream_gene_variant,,ENST00000586826,NM_001261439.1;ETV4,downstream_gene_variant,,ENST00000585508,;ETV4,downstream_gene_variant,,ENST00000590236,;ETV4,downstream_gene_variant,,ENST00000587151,;	uc002idw.2	c.735T>G	1034/2429	4	4			c.735T>G	T		EWSR1|TMPRSS2|DDX5|KLK2|CANT1		Ewing sarcoma|Prostate carcinoma	17	SNP	c.(733-735)GGT>GGG	33	33	EWSR1/ETV4(6)		bone(4)|soft_tissue(2)|ovary(1)	7	Broad	ets variant gene 4 (E1A enhancer binding			41610118		0.617	ENSG00000175832	5196	g.chr17:41610118A>C	positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	Esophageal Squamous(116;1540 1611 12927 31103 34118)		106	Esophageal Squamous(116;1540 1611 12927 31103 34118)		106	-7.082398	KEEP	10	7	-1	42	41	10	7	-1	6.528474	42	41	0.098765	1	0	0	0	0	0	0	1	0	--	--		0	C			ETV4_uc002idv.2_5'Flank|ETV4_uc010wih.1_Silent_p.G191G|ETV4_uc010czh.2_Silent_p.G244G|ETV4_uc010wii.1_Silent_p.G206G|ETV4_uc002idx.2_Silent_p.G245G|ETV4_uc010wij.1_Silent_p.G206G	143	GBM-14-1043-TP	p.G245G	A	CATTGACCCCACCCTGGTCCA	NM_001986	NP_001977	41610118	P43268	ETV4_HUMAN	0		BRCA - Breast invasive adenocarcinoma(366;0.0798)	8	863	-	C	C		Breast(137;0.00908)	Silent	245						
ETV5	0	broad.mit.edu	GRCh37	3	185823619	185823619	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306376.5:c.39C>T	p.Val13=	p.V13=	ENST00000306376	NM_004454.2	13	gtC/gtT	0			1			A	V	uc003fpz.2	protein_coding	YES	CCDS33906.1			39/1533	T		TMPRSS2|SCL45A3		Prostate				ovary(2)|skin(2)|breast(1)	5	c.(37-39)GTC>GTT			hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF166,Pfam_domain:PF04621	ets variant gene 5 (ets-related molecule)				ENSP00000306894		13-Feb									COSM2153675,COSM2153676,COSM3408498	13-Feb	.		ENST00000306376	Transcript			cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	ENSG00000244405	g.chr3:185823619G>A	3494			LOW								--	--	1																																		ETV5_uc003fpy.2_Silent_p.V55V	1,1,1	1			p.V13V	NM_004454	NP_004445			1,1,1	ETV5_HUMAN	ETV5	HGNC	P41161	ETV5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)		C9JMF0_HUMAN,C9J5A5_HUMAN,C9J0Z2_HUMAN		2	286	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		UPI000012A175	13					SNV	ETV5,synonymous_variant,p.=,ENST00000306376,NM_004454.2;ETV5,synonymous_variant,p.=,ENST00000434744,;ETV5,synonymous_variant,p.=,ENST00000537818,;ETV5,synonymous_variant,p.=,ENST00000440773,;ETV5,synonymous_variant,p.=,ENST00000413301,;ETV5,synonymous_variant,p.=,ENST00000422039,;ETV5,synonymous_variant,p.=,ENST00000421809,;ETV5,non_coding_transcript_exon_variant,,ENST00000476890,;DGKG,non_coding_transcript_exon_variant,,ENST00000447054,;ETV5,non_coding_transcript_exon_variant,,ENST00000472868,;ETV5,upstream_gene_variant,,ENST00000475484,;ETV5,upstream_gene_variant,,ENST00000495808,;	uc003fpz.2	c.39C>T	286/4111	1	1			c.39C>T	T		TMPRSS2|SCL45A3		Prostate	3	SNP	c.(37-39)GTC>GTT	63	63			ovary(2)|skin(2)|breast(1)	5	Broad	ets variant gene 5 (ets-related molecule)			185823619		0.453	ENSG00000244405	5197	g.chr3:185823619G>A	cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			170			170	67.338824	KEEP	10	13	-1	20	18	10	13	-1	68.078993	20	18	0.37931	1	0	0	0	0	0	0	1	0	--	--		0	A			ETV5_uc003fpy.2_Silent_p.V55V	120	GBM-12-0619-TP	p.V13V	G	TTACCCCTGGGACCATAAAAG	NM_004454	NP_004445	185823619	P41161	ETV5_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)		2	286	-	A	A	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		Silent	13						
ETV5	0	broad.mit.edu	GRCh37	3	185766628	185766628	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-4211-01	TCGA-32-4211-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306376.5:c.1333T>C	p.Tyr445His	p.Y445H	ENST00000306376	NM_004454.2	445	Tac/Cac	0			1			G	Y/H	uc003fpz.2	protein_coding	YES	CCDS33906.1			1333/1533	T		TMPRSS2|SCL45A3		Prostate			p.Y445C(2)	ovary(2)|skin(2)|breast(1)	5	c.(1333-1335)TAC>CAC			PROSITE_profiles:PS50061,hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF166,Pfam_domain:PF00178,Gene3D:1.10.10.10,SMART_domains:SM00413,Superfamily_domains:SSF46785,Prints_domain:PR00454	ets variant gene 5 (ets-related molecule)				ENSP00000306894		13/13									COSM3408496,COSM3408495,COSM3408497	13/13	.		ENST00000306376	Transcript			cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	ENSG00000244405	g.chr3:185766628A>G	3494			MODERATE		3.62	high	getma.org/?cm=msa&ty=f&p=ETV5_HUMAN&rb=367&re=450&var=Y445H	getma.org/pdb.php?prot=ETV5_HUMAN&from=367&to=450&var=Y445H	getma.org/?cm=var&var=hg19,3,185766628,A,G&fts=all	Y445H	--	--	1																																		ETV5_uc003fpy.2_Missense_Mutation_p.Y487H	1,1,1	1		probably_damaging(0.999)	p.Y445H	NM_004454	NP_004445		deleterious(0)	1,1,1	ETV5_HUMAN	ETV5	HGNC	P41161	ETV5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)		C9JMF0_HUMAN,C9J5A5_HUMAN,C9J0Z2_HUMAN		13	1580	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		UPI000012A175	445			ETS.		SNV	ETV5,missense_variant,p.Tyr445His,ENST00000306376,NM_004454.2;ETV5,missense_variant,p.Tyr445His,ENST00000434744,;ETV5,missense_variant,p.Tyr487His,ENST00000537818,;ETV5,non_coding_transcript_exon_variant,,ENST00000480706,;ETV5,3_prime_UTR_variant,,ENST00000433149,;	uc003fpz.2	c.1333T>C	1580/4111	3	3			c.1333T>C	T		TMPRSS2|SCL45A3		Prostate	3	SNP	c.(1333-1335)TAC>CAC	54	54		p.Y445C(2)	ovary(2)|skin(2)|breast(1)	5	Broad	ets variant gene 5 (ets-related molecule)			185766628		0.562	ENSG00000244405	5197	g.chr3:185766628A>G	cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			170			170	-8.339171	KEEP	3	0	-1	36	35	3	0	-1	6.842858	36	35	0.044118	1	0	0	0	0	1	0	0	0	--	--		0	G			ETV5_uc003fpy.2_Missense_Mutation_p.Y487H	246	GBM-32-4211-TP	p.Y445H	A	ACAAATTTGTAGACGTATCGC	NM_004454	NP_004445	185766628	P41161	ETV5_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)		13	1580	-	G	G	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		Missense_Mutation	445			ETS.			
EVA1A	84141	broad.mit.edu	GRCh37	2	75720689	75720689	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5411-01	TCGA-06-5411-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000233712.1:c.132C>T	p.Ile44=	p.I44=	ENST00000233712	NM_032181.2	44	atC/atT	0			1			A	I	uc002sni.2	protein_coding	YES	CCDS1959.1			132/459										0	c.(130-132)ATC>ATT			Transmembrane_helices:TMhelix,Pfam_domain:PF14851	family with sequence similarity 176, member A				ENSP00000233712		4-Apr	8.24E-06							7.02E-05	rs759948119,COSM2153145	4-Apr	.		ENST00000233712	Transcript			apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane		ENSG00000115363	g.chr2:75720689G>A	25816			LOW								--	--	1																																		FAM176A_uc002snj.1_Silent_p.I31I|FAM176A_uc002snk.1_Silent_p.I44I	0,1	1			p.I44I	NM_001135032	NP_001128504			0,1	EVA1A_HUMAN	EVA1A	HGNC	Q9H8M9	F176A_HUMAN			C9JX09_HUMAN,C9J5M4_HUMAN		4	610	-			UPI0000071E24	44			Necessary for the localization and biological activity.|Helical; (Potential).		SNV	EVA1A,synonymous_variant,p.=,ENST00000233712,NM_032181.2;EVA1A,synonymous_variant,p.=,ENST00000393913,NM_001135032.1;EVA1A,synonymous_variant,p.=,ENST00000410113,;EVA1A,synonymous_variant,p.=,ENST00000410071,;EVA1A,synonymous_variant,p.=,ENST00000410010,;EVA1A,synonymous_variant,p.=,ENST00000432649,;EVA1A,synonymous_variant,p.=,ENST00000452003,;snoU109,downstream_gene_variant,,ENST00000459339,;EVA1A,intron_variant,,ENST00000490746,;EVA1A,intron_variant,,ENST00000485891,;	uc002sni.2	c.132C>T	570/1815	1	1			c.132C>T						2	SNP	c.(130-132)ATC>ATT	49	49				0	Broad	family with sequence similarity 176, member A			75720689		0.537	ENSG00000115363	5410	g.chr2:75720689G>A	apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane								29.404893	KEEP	3	8	-1	14	17	3	8	-1	31.559717	14	17	0.261905	1	0	0	0	0	0	0	1	0	--	--		0	A			FAM176A_uc002snj.1_Silent_p.I31I|FAM176A_uc002snk.1_Silent_p.I44I	94	GBM-06-5411-TP	p.I44I	G	GCACCAGCCCGATGCACACGC	NM_001135032	NP_001128504	75720689	Q9H8M9	F176A_HUMAN	0			4	610	-	A	A			Silent	44			Necessary for the localization and biological activity.|Helical; (Potential).			
EVA1A	0	broad.mit.edu	GRCh37	2	75745200	75745200	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-2629-01	TCGA-19-2629-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000233712.1:c.67G>T	p.Ala23Ser	p.A23S	ENST00000233712	NM_032181.2	23	Gcc/Tcc	0			1			A	A/S	uc002sni.2	protein_coding	YES	CCDS1959.1			67/459										0	c.(67-69)GCC>TCC			Pfam_domain:PF14851	family with sequence similarity 176, member A				ENSP00000233712		4-Mar	8.24E-06					1.50E-05			rs761321988,COSM2156272	4-Mar	.		ENST00000233712	Transcript			apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane		ENSG00000115363	g.chr2:75745200C>A	25816			MODERATE		2.095	medium	getma.org/?cm=msa&ty=f&p=F176A_HUMAN&rb=1&re=152&var=A23S	NA	getma.org/?cm=var&var=hg19,2,75745200,C,A&fts=all	A23S	--	--	1																																		FAM176A_uc002snj.1_Missense_Mutation_p.A10S|FAM176A_uc002snk.1_Missense_Mutation_p.A23S	0,1	1		benign(0.006)	p.A23S	NM_001135032	NP_001128504		tolerated(0.07)	0,1	EVA1A_HUMAN	EVA1A	HGNC	Q9H8M9	F176A_HUMAN			C9JX09_HUMAN,C9J5M4_HUMAN		3	545	-			UPI0000071E24	23			Necessary for the localization and biological activity.		SNV	EVA1A,missense_variant,p.Ala23Ser,ENST00000233712,NM_032181.2;EVA1A,missense_variant,p.Ala23Ser,ENST00000393913,NM_001135032.1;EVA1A,missense_variant,p.Ala23Ser,ENST00000410113,;EVA1A,missense_variant,p.Ala23Ser,ENST00000410071,;EVA1A,missense_variant,p.Ala23Ser,ENST00000432649,;EVA1A,missense_variant,p.Ala23Ser,ENST00000452003,;EVA1A,upstream_gene_variant,,ENST00000410010,;EVA1A,non_coding_transcript_exon_variant,,ENST00000490746,;EVA1A,non_coding_transcript_exon_variant,,ENST00000486696,;EVA1A,non_coding_transcript_exon_variant,,ENST00000485891,;	uc002sni.2	c.67G>T	505/1815	1	1			c.67G>T						2	SNP	c.(67-69)GCC>TCC	53	53				0	Broad	family with sequence similarity 176, member A			75745200		0.612	ENSG00000115363	5410	g.chr2:75745200C>A	apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane								81.365661	KEEP	15	17	0.53125	28	43	15	17	0.53125	84.507564	28	43	0.304348	1	0	0	0	0	1	0	0	0	--	--		0	A			FAM176A_uc002snj.1_Missense_Mutation_p.A10S|FAM176A_uc002snk.1_Missense_Mutation_p.A23S	166	GBM-19-2629-TP	p.A23S	C	AAGGAATAGGCCGCTAGGATG	NM_001135032	NP_001128504	75745200	Q9H8M9	F176A_HUMAN	0			3	545	-	A	A			Missense_Mutation	23			Necessary for the localization and biological activity.			
EVA1C	0	broad.mit.edu	GRCh37	21	33876254	33876254	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-41-3915-01	TCGA-41-3915-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300255.2:c.878G>T	p.Ser293Ile	p.S293I	ENST00000300255	NM_058187.3	293	aGc/aTc	0			1			T	S/I	uc002ypr.1	protein_coding	YES	CCDS13614.1			878/1326									ovary(2)|pancreas(1)	3	c.(877-879)AGC>ATC			hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF220	hypothetical protein LOC59271 precursor				ENSP00000300255		8-Jul									COSM3405358	8-Jul	.		ENST00000300255	Transcript				integral to membrane	sugar binding	ENSG00000166979	g.chr21:33876254G>T	13239			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=CU063_HUMAN&rb=260&re=441&var=S293I	NA	getma.org/?cm=var&var=hg19,21,33876254,G,T&fts=all	S293I	--	--	1																																		C21orf63_uc002yps.1_RNA|C21orf63_uc010glw.1_Missense_Mutation_p.S290I|C21orf63_uc002ypt.1_RNA|C21orf63_uc002ypu.1_Missense_Mutation_p.S198I|C21orf63_uc011adq.1_5'UTR	1	1		benign(0.034)	p.S293I	NM_058187	NP_478067		tolerated(0.11)	1	EVA1C_HUMAN	EVA1C	HGNC	P58658	CU063_HUMAN			C9JS02_HUMAN,B3KWG0_HUMAN		7	1288	+			UPI00000373F4	293			Extracellular (Potential).		SNV	EVA1C,missense_variant,p.Ser293Ile,ENST00000300255,NM_058187.3;EVA1C,missense_variant,p.Ser290Ile,ENST00000382699,NM_001286556.1;EVA1C,missense_variant,p.Ser245Ile,ENST00000401402,;EVA1C,non_coding_transcript_exon_variant,,ENST00000485488,;EVA1C,non_coding_transcript_exon_variant,,ENST00000496615,;EVA1C,downstream_gene_variant,,ENST00000459833,;EVA1C,3_prime_UTR_variant,,ENST00000437338,;EVA1C,3_prime_UTR_variant,,ENST00000435323,;EVA1C,3_prime_UTR_variant,,ENST00000457807,;EVA1C,non_coding_transcript_exon_variant,,ENST00000464037,;	uc002ypr.1	c.878G>T	1351/1998	2	2			c.878G>T						21	SNP	c.(877-879)AGC>ATC	36	36			ovary(2)|pancreas(1)	3	Broad	hypothetical protein LOC59271 precursor			33876254		0.433	ENSG00000166979	2088	g.chr21:33876254G>T		integral to membrane	sugar binding							-90.656045	KEEP	13	13	0.5	300	319	13	13	0.5	34.761768	300	319	0.035514	1	0	0	0	0	1	0	0	0	--	--		0	T			C21orf63_uc002yps.1_RNA|C21orf63_uc010glw.1_Missense_Mutation_p.S290I|C21orf63_uc002ypt.1_RNA|C21orf63_uc002ypu.1_Missense_Mutation_p.S198I|C21orf63_uc011adq.1_5'UTR	256	GBM-41-3915-TP	p.S293I	G	TTCGACCCAAGCGGATCGAAG	NM_058187	NP_478067	33876254	P58658	CU063_HUMAN	0			7	1288	+	T	T			Missense_Mutation	293			Extracellular (Potential).			
EVC2	132884	broad.mit.edu	GRCh37	4	5630350	5630350	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0648-01	TCGA-06-0648-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344408.5:c.1822C>T	p.Arg608Cys	p.R608C	ENST00000344408	NM_147127.4	608	Cgt/Tgt	0	A:0.0002		1			A	R/C	uc003gij.2	protein_coding	YES	CCDS3382.2			1822/3927									large_intestine(3)|ovary(2)	5	c.(1822-1824)CGT>TGT			Pfam_domain:PF12297,hmmpanther:PTHR16795,hmmpanther:PTHR16795:SF11	limbin			A:0	ENSP00000342144		22-Dec	6.59E-05	0.00048	8.64E-05			1.50E-05		6.06E-05	rs371876802,COSM2151400,COSM3409373	22-Dec	common_variant		ENST00000344408	Transcript	1			integral to membrane		ENSG00000173040	g.chr4:5630350G>A	19747			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=LBN_HUMAN&rb=237&re=661&var=R608C	NA	getma.org/?cm=var&var=hg19,4,5630350,G,A&fts=all	R608C	--	--	1																																		EVC2_uc011bwb.1_Missense_Mutation_p.R48C|EVC2_uc003gik.2_Missense_Mutation_p.R528C	0,1,1	1		probably_damaging(1)	p.R608C	NM_147127	NP_667338		deleterious(0)	0,1,1	LBN_HUMAN	EVC2	HGNC	Q86UK5	LBN_HUMAN			Q4W5B1_HUMAN,Q4W5A4_HUMAN		12	1876	-			UPI00001910B5	608					SNV	EVC2,missense_variant,p.Arg528Cys,ENST00000310917,NM_001166136.1;EVC2,missense_variant,p.Arg608Cys,ENST00000344408,NM_147127.4;EVC2,missense_variant,p.Arg608Cys,ENST00000344938,;EVC2,missense_variant,p.Arg528Cys,ENST00000475313,;EVC2,3_prime_UTR_variant,,ENST00000509670,;	uc003gij.2	c.1822C>T	1876/4390	2	2			c.1822C>T						4	SNP	c.(1822-1824)CGT>TGT	22	22			large_intestine(3)|ovary(2)	5	Broad	limbin			5630350		0.498	ENSG00000173040	5201	g.chr4:5630350G>A		integral to membrane								217.343175	KEEP	42	30	-1	40	43	42	30	-1	217.526579	40	43	0.461538	1	0	0	0	0	1	0	0	0	--	--		0	A			EVC2_uc011bwb.1_Missense_Mutation_p.R48C|EVC2_uc003gik.2_Missense_Mutation_p.R528C	61	GBM-06-0648-TP	p.R608C	G	CCCTGCACACGGGTCTCTGAT	NM_147127	NP_667338	5630350	Q86UK5	LBN_HUMAN	0			12	1876	-	A	A			Missense_Mutation	608						
EVI2B	2124	broad.mit.edu	GRCh37	17	29631684	29631684	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-2569-01	TCGA-06-2569-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330927.4:c.944G>C	p.Gly315Ala	p.G315A	ENST00000330927	NM_006495.3	315	gGt/gCt	0			1			G	G/A	uc002hgk.2	protein_coding	YES	CCDS11266.1			944/1347									ovary(2)	2	c.(943-945)GGT>GCT			hmmpanther:PTHR15384	ecotropic viral integration site 2B precursor				ENSP00000333779		2-Feb									COSM3402741	2-Feb	.		ENST00000330927	Transcript				cytoplasm|integral to plasma membrane		ENSG00000185862	g.chr17:29631684C>G	3500			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=EVI2B_HUMAN&rb=286&re=446&var=G315A	NA	getma.org/?cm=var&var=hg19,17,29631684,C,G&fts=all	G315A	--	--	1																																		NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2B_uc010csq.2_Missense_Mutation_p.G330A	1	1		probably_damaging(0.959)	p.G315A	NM_006495	NP_006486		tolerated(0.06)	1	EVI2B_HUMAN	EVI2B	HGNC	P34910	EVI2B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)			2	1099	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	UPI00001AFD5F	315			Cytoplasmic (Potential).		SNV	EVI2B,missense_variant,p.Gly315Ala,ENST00000330927,NM_006495.3;EVI2B,missense_variant,p.Gly315Ala,ENST00000577894,;EVI2B,missense_variant,p.Gly330Ala,ENST00000544462,;NF1,intron_variant,,ENST00000358273,NM_001042492.2;NF1,intron_variant,,ENST00000356175,NM_000267.3;NF1,intron_variant,,ENST00000456735,;CTD-2370N5.3,downstream_gene_variant,,ENST00000578584,;CTD-2370N5.3,downstream_gene_variant,,ENST00000584948,;NF1,intron_variant,,ENST00000579081,;NF1,intron_variant,,ENST00000493220,;CTD-2370N5.3,downstream_gene_variant,,ENST00000581884,;CTD-2370N5.3,downstream_gene_variant,,ENST00000578021,;	uc002hgk.2	c.944G>C	1099/1999	3	3			c.944G>C						17	SNP	c.(943-945)GGT>GCT	1	1			ovary(2)	2	Broad	ecotropic viral integration site 2B precursor			29631684		0.388	ENSG00000185862	5203	g.chr17:29631684C>G		cytoplasm|integral to plasma membrane								338.095912	KEEP	57	39	-1	49	75	57	39	-1	338.6488	49	75	0.444444	1	0	0	0	0	1	0	0	0	--	--		0	G			NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2B_uc010csq.2_Missense_Mutation_p.G330A	90	GBM-06-2569-TP	p.G315A	C	TTCTGATGTACCATTTACTTG	NM_006495	NP_006486	29631684	P34910	EVI2B_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)	2	1099	-	G	G		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	Missense_Mutation	315			Cytoplasmic (Potential).			
EVI2B	2124		GRCh37	17	29632208	29632208	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000330927.4:c.420G>T	p.Lys140Asn	p.K140N	ENST00000330927	NM_006495.3	140	aaG/aaT	0																																																																																																																																																																																																																																												
EVI2B	2124		GRCh37	17	29632210	29632210	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000330927.4:c.418A>C	p.Lys140Gln	p.K140Q	ENST00000330927	NM_006495.3	140	Aag/Cag	0																																																																																																																																																																																																																																												
EVI5	7813	broad.mit.edu	GRCh37	1	93159365	93159366	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-06-2558-01	TCGA-06-2558-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370331.1:c.1222dup	p.Met408AsnfsTer5	p.M408Nfs*5	ENST00000370331	NM_005665.4	408	atg/aAtg	0			1			T	M/NX	uc001dox.2	protein_coding	YES	CCDS30774.1			1222-1223/2433									ovary(1)|breast(1)	2	c.(1222-1224)ATGfs			hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF197	ecotropic viral integration site 5				ENSP00000359356		18-Sep									rs774895866,COSM1344925	18-Sep	.		ENST00000370331	Transcript			cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	ENSG00000067208	g.chr1:93159365_93159366insT	3501			HIGH								--	--	1																																		EVI5_uc010otf.1_Frame_Shift_Ins_p.M408fs|EVI5_uc001doy.1_RNA	0,1	1			p.M408fs	NM_005665	NP_005656			0,1	EVI5_HUMAN	EVI5	HGNC	O60447	EVI5_HUMAN		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)			9	1232_1233	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	UPI0000470AFE	408			Dimerization.|Targeting to the centrosomes.|Potential.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.		insertion	EVI5,frameshift_variant,p.Met408AsnfsTer5,ENST00000370331,NM_005665.4;EVI5,frameshift_variant,p.Met408AsnfsTer5,ENST00000540033,;EVI5,frameshift_variant,p.Met408AsnfsTer5,ENST00000543509,;	uc001dox.2	c.1222_1223insA	1232-1233/7403	5	5			c.1222_1223insA						1	INS	c.(1222-1224)ATGfs	6	6			ovary(1)|breast(1)	2	Broad	ecotropic viral integration site 5			93159366		0.317	ENSG00000067208	5204	g.chr1:93159365_93159366insT	cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity																				0.07	1	0	0	1	1	0	0	0	0	--	--		0	T			EVI5_uc010otf.1_Frame_Shift_Ins_p.M408fs|EVI5_uc001doy.1_RNA	82	GBM-06-2558-TP	p.M408fs	-	TTACTTTTTCATTTTTTTTGAA	NM_005665	NP_005656	93159365	O60447	EVI5_HUMAN	0		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	9	1232_1233	-	T	T		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	Frame_Shift_Ins	408			Dimerization.|Targeting to the centrosomes.|Potential.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.			
EVI5L	0	broad.mit.edu	GRCh37	19	7928493	7928493	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-1991-01	TCGA-32-1991-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000270530.4:c.2290C>A	p.Arg764Ser	p.R764S	ENST00000270530	NM_145245.3	764	Cgc/Agc	0			1			A	R/S	uc002min.2	protein_coding		CCDS12188.1			2290/2385									ovary(1)	1	c.(2290-2292)CGC>AGC				ecotropic viral integration site 5-like isoform				ENSP00000270530		19/19									COSM3404789	19/19	.		ENST00000270530	Transcript				intracellular	protein binding|Rab GTPase activator activity	ENSG00000142459	g.chr19:7928493C>A	30464			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=EVI5L_HUMAN&rb=719&re=794&var=R764S	NA	getma.org/?cm=var&var=hg19,19,7928493,C,A&fts=all	R764S	--	--	1																																		EVI5L_uc010xjz.1_Missense_Mutation_p.R775S	1			benign(0.006)	p.R764S	NM_145245	NP_660288		tolerated_low_confidence(0.39)	1	EVI5L_HUMAN	EVI5L	HGNC	Q96CN4	EVI5L_HUMAN					19	2444	+			UPI000006DA7E	764					SNV	EVI5L,missense_variant,p.Arg764Ser,ENST00000270530,NM_145245.3;EVI5L,missense_variant,p.Arg775Ser,ENST00000538904,NM_001159944.1;EVI5L,downstream_gene_variant,,ENST00000601766,;EVI5L,downstream_gene_variant,,ENST00000601984,;	uc002min.2	c.2290C>A	2486/3855	2	2			c.2290C>A						19	SNP	c.(2290-2292)CGC>AGC	21	21			ovary(1)	1	Broad	ecotropic viral integration site 5-like isoform			7928493		0.687	ENSG00000142459	5205	g.chr19:7928493C>A		intracellular	protein binding|Rab GTPase activator activity							6.746362	KEEP	2	0	-1	5	5	2	0	-1	7.200637	5	5	0.25	1	0	0	0	0	1	0	0	0	--	--		0	A			EVI5L_uc010xjz.1_Missense_Mutation_p.R775S	234	GBM-32-1991-TP	p.R764S	C	GCGCTTCTTCCGCCGTCTGGA	NM_145245	NP_660288	7928493	Q96CN4	EVI5L_HUMAN	0			19	2444	+	A	A			Missense_Mutation	764						
EVPL	2125	broad.mit.edu	GRCh37	17	74004095	74004095	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0128-01	TCGA-06-0128-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301607.3:c.5191C>T	p.Pro1731Ser	p.P1731S	ENST00000301607	NM_001988.2	1731	Ccc/Tcc	0			1			A	P/S	uc002jqi.2	protein_coding	YES	CCDS11737.1			5191/6102									pancreas(2)|central_nervous_system(1)|skin(1)	4	c.(5191-5193)CCC>TCC			hmmpanther:PTHR23169,hmmpanther:PTHR23169:SF7,Gene3D:3.90.1290.10,SMART_domains:SM00250,Superfamily_domains:SSF75399	envoplakin				ENSP00000301607		22/22									COSM2149484	22/22	.		ENST00000301607	Transcript			keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	ENSG00000167880	g.chr17:74004095G>A	3503			MODERATE		0.755	neutral	getma.org/?cm=msa&ty=f&p=EVPL_HUMAN&rb=1721&re=1826&var=P1731S	NA	getma.org/?cm=var&var=hg19,17,74004095,G,A&fts=all	P1731S	--	--	1																																		EVPL_uc010wss.1_Missense_Mutation_p.P1753S|EVPL_uc010wst.1_Missense_Mutation_p.P1201S	1	1		probably_damaging(0.941)	p.P1731S	NM_001988	NP_001979		tolerated(0.06)	1	EVPL_HUMAN	EVPL	HGNC	Q92817	EVPL_HUMAN			K7EQ87_HUMAN		22	5419	-			UPI000013E730	1731			Globular 2.		SNV	EVPL,missense_variant,p.Pro1731Ser,ENST00000301607,NM_001988.2;EVPL,missense_variant,p.Pro1753Ser,ENST00000586740,;CDK3,downstream_gene_variant,,ENST00000425876,;CDK3,downstream_gene_variant,,ENST00000448471,NM_001258.2;CDK3,downstream_gene_variant,,ENST00000586261,;EVPL,upstream_gene_variant,,ENST00000589231,;EVPL,non_coding_transcript_exon_variant,,ENST00000587569,;TEN1-CDK3,downstream_gene_variant,,ENST00000567351,;TEN1-CDK3,downstream_gene_variant,,ENST00000569284,;EVPL,downstream_gene_variant,,ENST00000593037,;	uc002jqi.2	c.5191C>T	5445/6614	1	1			c.5191C>T						17	SNP	c.(5191-5193)CCC>TCC	51	51			pancreas(2)|central_nervous_system(1)|skin(1)	4	Broad	envoplakin			74004095		0.642	ENSG00000167880	5207	g.chr17:74004095G>A	keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity							107.855759	KEEP	19	18	-1	17	25	19	18	-1	107.866067	17	25	0.486111	1	0	0	0	0	1	0	0	0	--	--		0	A			EVPL_uc010wss.1_Missense_Mutation_p.P1753S|EVPL_uc010wst.1_Missense_Mutation_p.P1201S	14	GBM-06-0128-TP	p.P1731S	G	TCCCCACAGGGCCCCGAGGTG	NM_001988	NP_001979	74004095	Q92817	EVPL_HUMAN	0			22	5419	-	A	A			Missense_Mutation	1731			Globular 2.			
EVPL	2125	broad.mit.edu	GRCh37	17	74005931	74005931	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0210-01	TCGA-06-0210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301607.3:c.3355C>T	p.Arg1119Cys	p.R1119C	ENST00000301607	NM_001988.2	1119	Cgc/Tgc	0			1			A	R/C	uc002jqi.2	protein_coding	YES	CCDS11737.1			3355/6102									pancreas(2)|central_nervous_system(1)|skin(1)	4	c.(3355-3357)CGC>TGC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23169,hmmpanther:PTHR23169:SF7	envoplakin				ENSP00000301607		22/22	8.24E-06					1.50E-05			rs770411485,COSM3403226	22/22	.		ENST00000301607	Transcript			keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	ENSG00000167880	g.chr17:74005931G>A	3503			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=EVPL_HUMAN&rb=1001&re=1200&var=R1119C	NA	getma.org/?cm=var&var=hg19,17,74005931,G,A&fts=all	R1119C	--	--	1																																		EVPL_uc010wss.1_Missense_Mutation_p.R1141C|EVPL_uc010wst.1_Missense_Mutation_p.R589C	0,1	1		possibly_damaging(0.858)	p.R1119C	NM_001988	NP_001979		deleterious(0)	0,1	EVPL_HUMAN	EVPL	HGNC	Q92817	EVPL_HUMAN			K7EQ87_HUMAN		22	3583	-			UPI000013E730	1119			Central fibrous rod domain.|Potential.		SNV	EVPL,missense_variant,p.Arg1119Cys,ENST00000301607,NM_001988.2;EVPL,missense_variant,p.Arg1141Cys,ENST00000586740,;CDK3,downstream_gene_variant,,ENST00000425876,;CDK3,downstream_gene_variant,,ENST00000448471,NM_001258.2;EVPL,upstream_gene_variant,,ENST00000589231,;EVPL,non_coding_transcript_exon_variant,,ENST00000587569,;TEN1-CDK3,downstream_gene_variant,,ENST00000567351,;TEN1-CDK3,downstream_gene_variant,,ENST00000569284,;EVPL,downstream_gene_variant,,ENST00000593037,;	uc002jqi.2	c.3355C>T	3609/6614	2	2			c.3355C>T						17	SNP	c.(3355-3357)CGC>TGC	17	17			pancreas(2)|central_nervous_system(1)|skin(1)	4	Broad	envoplakin			74005931		0.627	ENSG00000167880	5207	g.chr17:74005931G>A	keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity							66.654233	KEEP	15	15	-1	73	52	15	15	-1	73.365882	73	52	0.245614	1	0	0	0	0	1	0	0	0	--	--		0	A			EVPL_uc010wss.1_Missense_Mutation_p.R1141C|EVPL_uc010wst.1_Missense_Mutation_p.R589C	47	GBM-06-0210-TP	p.R1119C	G	TCTTCGATGCGAGCCTGTAGC	NM_001988	NP_001979	74005931	Q92817	EVPL_HUMAN	0			22	3583	-	A	A			Missense_Mutation	1119			Central fibrous rod domain.|Potential.			
EVPL	0	broad.mit.edu	GRCh37	17	74017966	74017966	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-5299-01	TCGA-12-5299-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301607.3:c.789C>T	p.Gly263=	p.G263=	ENST00000301607	NM_001988.2	263	ggC/ggT	0			1			A	G	uc002jqi.2	protein_coding	YES	CCDS11737.1			789/6102									pancreas(2)|central_nervous_system(1)|skin(1)	4	c.(787-789)GGC>GGT			hmmpanther:PTHR23169,hmmpanther:PTHR23169:SF7,SMART_domains:SM00150,Superfamily_domains:SSF46966	envoplakin				ENSP00000301607		22-Jul									COSM3403228	22-Jul	.		ENST00000301607	Transcript			keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	ENSG00000167880	g.chr17:74017966G>A	3503			LOW								--	--	1																																		EVPL_uc010wss.1_Silent_p.G263G|EVPL_uc010wst.1_5'UTR	1	1			p.G263G	NM_001988	NP_001979			1	EVPL_HUMAN	EVPL	HGNC	Q92817	EVPL_HUMAN			K7EQ87_HUMAN		7	1017	-			UPI000013E730	263			Spectrin.|Globular 1.		SNV	EVPL,synonymous_variant,p.=,ENST00000301607,NM_001988.2;EVPL,synonymous_variant,p.=,ENST00000586740,;EVPL,non_coding_transcript_exon_variant,,ENST00000587569,;	uc002jqi.2	c.789C>T	1043/6614	2	2			c.789C>T						17	SNP	c.(787-789)GGC>GGT	43	43			pancreas(2)|central_nervous_system(1)|skin(1)	4	Broad	envoplakin			74017966		0.756	ENSG00000167880	5207	g.chr17:74017966G>A	keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity							8.422144	KEEP	2	2	-1	6	2	2	2	-1	8.643478	6	2	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	A			EVPL_uc010wss.1_Silent_p.G263G|EVPL_uc010wst.1_5'UTR	130	GBM-12-5299-TP	p.G263G	G	CCCGCCGCACGCCCGCAGGGT	NM_001988	NP_001979	74017966	Q92817	EVPL_HUMAN	0			7	1017	-	A	A			Silent	263			Spectrin.|Globular 1.			
EVPL	0	broad.mit.edu	GRCh37	17	74011625	74011625	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01	TCGA-41-5651-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301607.3:c.1795G>A	p.Val599Met	p.V599M	ENST00000301607	NM_001988.2	599	Gtg/Atg	0			1			T	V/M	uc002jqi.2	protein_coding	YES	CCDS11737.1			1795/6102									pancreas(2)|central_nervous_system(1)|skin(1)	4	c.(1795-1797)GTG>ATG			hmmpanther:PTHR23169,hmmpanther:PTHR23169:SF7	envoplakin				ENSP00000301607		15/22	8.24E-06		8.67E-05						rs777161070,COSM3403227	15/22	.		ENST00000301607	Transcript			keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	ENSG00000167880	g.chr17:74011625C>T	3503			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=EVPL_HUMAN&rb=401&re=600&var=V599M	NA	getma.org/?cm=var&var=hg19,17,74011625,C,T&fts=all	V599M	--	--	1																																		EVPL_uc010wss.1_Missense_Mutation_p.V621M|EVPL_uc010wst.1_Missense_Mutation_p.V69M	0,1	1		benign(0.014)	p.V599M	NM_001988	NP_001979		tolerated(0.24)	0,1	EVPL_HUMAN	EVPL	HGNC	Q92817	EVPL_HUMAN			K7EQ87_HUMAN		15	2023	-			UPI000013E730	599			Globular 1.		SNV	EVPL,missense_variant,p.Val599Met,ENST00000301607,NM_001988.2;EVPL,missense_variant,p.Val621Met,ENST00000586740,;EVPL,non_coding_transcript_exon_variant,,ENST00000587569,;EVPL,upstream_gene_variant,,ENST00000593037,;	uc002jqi.2	c.1795G>A	2049/6614	1	1			c.1795G>A						17	SNP	c.(1795-1797)GTG>ATG	5	5			pancreas(2)|central_nervous_system(1)|skin(1)	4	Broad	envoplakin			74011625		0.647	ENSG00000167880	5207	g.chr17:74011625C>T	keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity							43.065917	KEEP	12	9	-1	16	25	12	9	-1	44.514668	16	25	0.32	1	0	0	0	0	1	0	0	0	--	--		0	T			EVPL_uc010wss.1_Missense_Mutation_p.V621M|EVPL_uc010wst.1_Missense_Mutation_p.V69M	258	GBM-41-5651-TP	p.V599M	C	GCGGGGCCCACGGGCCGCGTG	NM_001988	NP_001979	74011625	Q92817	EVPL_HUMAN	0			15	2023	-	T	T			Missense_Mutation	599			Globular 1.			
EVPL	2125		GRCh37	17	74005267	74005267	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000301607.3:c.4019C>T	p.Ala1340Val	p.A1340V	ENST00000301607	NM_001988.2	1340	gCg/gTg	0																																																																																																																																																																																																																																												
EXD1	161829	broad.mit.edu	GRCh37	15	41483752	41483752	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01	TCGA-02-0055-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314992.5:c.578C>T	p.Thr193Met	p.T193M	ENST00000314992	NM_152596.2	193	aCg/aTg	0		A:0	1	A:0		A	T/M	uc001znk.2	protein_coding	YES	CCDS10072.1			578/1545									ovary(1)	1	c.(577-579)ACG>ATG			Superfamily_domains:SSF53098,SMART_domains:SM00474,Gene3D:3.30.420.10,Pfam_domain:PF01612,hmmpanther:PTHR12124:SF39,hmmpanther:PTHR12124	exonuclease 3'-5' domain containing 1		A:0.001		ENSP00000321029	A:0	10-Aug	8.24E-05			0.000578		6.00E-05		6.06E-05	rs200349978,COSM2149064	10-Aug	common_variant		ENST00000314992	Transcript		A:0.0002	nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	ENSG00000178997	g.chr15:41483752G>A	28507			MODERATE		1.545	low	getma.org/?cm=msa&ty=f&p=EXD1_HUMAN&rb=79&re=281&var=T193M	NA	getma.org/?cm=var&var=hg19,15,41483752,G,A&fts=all	T193M	--	--	1																																		EXD1_uc001znj.2_5'Flank|EXD1_uc010ucv.1_Missense_Mutation_p.T251M	0,1	1		probably_damaging(0.994)	p.T193M	NM_152596	NP_689809	A:0	deleterious(0)	0,1	EXD1_HUMAN	EXD1	HGNC	Q8NHP7	EXD1_HUMAN					8	769	-			UPI00001BBFD3	193					SNV	EXD1,missense_variant,p.Thr193Met,ENST00000314992,NM_152596.2;EXD1,missense_variant,p.Thr251Met,ENST00000458580,NM_001286441.1;RN7SL497P,downstream_gene_variant,,ENST00000476341,;EXD1,upstream_gene_variant,,ENST00000558881,;	uc001znk.2	c.578C>T	769/2942	2	2			c.578C>T						15	SNP	c.(577-579)ACG>ATG	41	41			ovary(1)	1	Broad	exonuclease 3'-5' domain containing 1			41483752		0.383	ENSG00000178997	5211	g.chr15:41483752G>A	nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding							132.056232	KEEP	30	21	-1	43	68	30	21	-1	136.503124	43	68	0.317881	1	0	0	0	0	1	0	0	0	--	--		0	A			EXD1_uc001znj.2_5'Flank|EXD1_uc010ucv.1_Missense_Mutation_p.T251M	4	GBM-02-0055-TP	p.T193M	G	ATAGCCACCCGTTTCCATGGA	NM_152596	NP_689809	41483752	Q8NHP7	EXD1_HUMAN	0			8	769	-	A	A			Missense_Mutation	193						
EXD1	0	broad.mit.edu	GRCh37	15	41501708	41501708	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-5139-01	TCGA-26-5139-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314992.5:c.351C>T	p.Cys117=	p.C117=	ENST00000314992	NM_152596.2	117	tgC/tgT	0			1			A	C	uc001znk.2	protein_coding	YES	CCDS10072.1			351/1545									ovary(1)	1	c.(349-351)TGC>TGT			Superfamily_domains:SSF53098,SMART_domains:SM00474,Gene3D:3.30.420.10,Pfam_domain:PF01612,hmmpanther:PTHR12124:SF39,hmmpanther:PTHR12124	exonuclease 3'-5' domain containing 1				ENSP00000321029		10-May									COSM3401714	10-May	.		ENST00000314992	Transcript			nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	ENSG00000178997	g.chr15:41501708G>A	28507			LOW								--	--	1																																		EXD1_uc010ucv.1_Silent_p.C175C	1	1			p.C117C	NM_152596	NP_689809			1	EXD1_HUMAN	EXD1	HGNC	Q8NHP7	EXD1_HUMAN					5	542	-			UPI00001BBFD3	117			3'-5' exonuclease.		SNV	EXD1,synonymous_variant,p.=,ENST00000314992,NM_152596.2;EXD1,synonymous_variant,p.=,ENST00000458580,NM_001286441.1;	uc001znk.2	c.351C>T	542/2942	1	1			c.351C>T						15	SNP	c.(349-351)TGC>TGT	52	52			ovary(1)	1	Broad	exonuclease 3'-5' domain containing 1			41501708		0.373	ENSG00000178997	5211	g.chr15:41501708G>A	nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding							-16.697482	KEEP	2	2	-1	57	56	2	2	-1	8.38328	57	56	0.037037	1	0	0	0	0	0	0	1	0	--	--		0	A			EXD1_uc010ucv.1_Silent_p.C175C	186	GBM-26-5139-TP	p.C117C	G	CCTGCAGCCAGCACAGTTTGC	NM_152596	NP_689809	41501708	Q8NHP7	EXD1_HUMAN	0			5	542	-	A	A			Silent	117			3'-5' exonuclease.			
EXD1	0	broad.mit.edu	GRCh37	15	41488149	41488149	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-28-2502-01	TCGA-28-2502-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314992.5:c.447A>C	p.Glu149Asp	p.E149D	ENST00000314992	NM_152596.2	149	gaA/gaC	0			1			G	E/D	uc001znk.2	protein_coding	YES	CCDS10072.1			447/1545									ovary(1)	1	c.(445-447)GAA>GAC			Superfamily_domains:SSF53098,SMART_domains:SM00474,Gene3D:3.30.420.10,Pfam_domain:PF01612,hmmpanther:PTHR12124:SF39,hmmpanther:PTHR12124	exonuclease 3'-5' domain containing 1				ENSP00000321029		10-Jun									COSM3401713	10-Jun	.		ENST00000314992	Transcript			nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	ENSG00000178997	g.chr15:41488149T>G	28507			MODERATE		2.285	medium	getma.org/?cm=msa&ty=f&p=EXD1_HUMAN&rb=79&re=281&var=E149D	NA	getma.org/?cm=var&var=hg19,15,41488149,T,G&fts=all	E149D	--	--	1																																		EXD1_uc010ucv.1_Missense_Mutation_p.E207D	1	1		probably_damaging(0.99)	p.E149D	NM_152596	NP_689809		deleterious(0)	1	EXD1_HUMAN	EXD1	HGNC	Q8NHP7	EXD1_HUMAN					6	638	-			UPI00001BBFD3	149					SNV	EXD1,missense_variant,p.Glu149Asp,ENST00000314992,NM_152596.2;EXD1,missense_variant,p.Glu207Asp,ENST00000458580,NM_001286441.1;RN7SL497P,upstream_gene_variant,,ENST00000476341,;	uc001znk.2	c.447A>C	638/2942	3	3			c.447A>C						15	SNP	c.(445-447)GAA>GAC	61	61			ovary(1)	1	Broad	exonuclease 3'-5' domain containing 1			41488149		0.378	ENSG00000178997	5211	g.chr15:41488149T>G	nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding							128.202419	KEEP	26	29	-1	68	65	26	29	-1	135.243696	68	65	0.279503	1	0	0	0	0	1	0	0	0	--	--		0	G			EXD1_uc010ucv.1_Missense_Mutation_p.E207D	210	GBM-28-2502-TP	p.E149D	T	TTCTCTTGTCTTCTAGTATCA	NM_152596	NP_689809	41488149	Q8NHP7	EXD1_HUMAN	0			6	638	-	G	G			Missense_Mutation	149						
EXD2	0	broad.mit.edu	GRCh37	14	69702870	69702870	+	splice_donor_variant	Splice_Site	SNP	G	G	T			TCGA-14-0817-01	TCGA-14-0817-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312994.5:c.1156+1G>T		p.X386_splice	ENST00000312994				0			1			T		uc001xkt.2	protein_coding		CCDS53902.1			1156/1866										0	c.e8+1				exonuclease 3'-5' domain containing 2				ENSP00000313140											COSM3401433,COSM3401434		.		ENST00000312994	Transcript			nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	ENSG00000081177	g.chr14:69702870G>T	20217			HIGH	8-Jun							--	--	1																																		EXD2_uc001xku.2_Splice_Site_p.E131_splice|EXD2_uc001xkv.2_Splice_Site_p.E386_splice|EXD2_uc001xkw.2_Splice_Site_p.E261_splice|EXD2_uc010aqt.2_Splice_Site_p.E386_splice|EXD2_uc010tte.1_Splice_Site_p.E386_splice|EXD2_uc001xky.2_Splice_Site_p.E261_splice	1,1				p.E261_splice	NM_018199	NP_060669			1,1	EXD2_HUMAN	EXD2	HGNC	Q9NVH0	EXD2_HUMAN			C9JLF4_HUMAN		8	1440	+			UPI0000577ED7						SNV	EXD2,splice_donor_variant,,ENST00000409014,NM_001193360.1;EXD2,splice_donor_variant,,ENST00000409018,NM_001193361.1;EXD2,splice_donor_variant,,ENST00000449989,;EXD2,splice_donor_variant,,ENST00000409675,NM_018199.3;EXD2,splice_donor_variant,,ENST00000409949,NM_001193362.1;EXD2,splice_donor_variant,,ENST00000312994,;EXD2,splice_donor_variant,,ENST00000409242,NM_001193363.1;RP11-363J20.2,downstream_gene_variant,,ENST00000556316,;EXD2,splice_donor_variant,,ENST00000492815,;EXD2,downstream_gene_variant,,ENST00000494629,;EXD2,splice_donor_variant,,ENST00000465286,;	uc001xkt.2	c.781_splice	-/2496	5	2			c.781_splice						14	SNP	c.e8+1	48	48				0	Broad	exonuclease 3'-5' domain containing 2			69702870		0.478	ENSG00000081177	5212	g.chr14:69702870G>T	nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding							258.042576	KEEP	52	29	0.641975309	45	44	52	29	0.641975309	258.107919	45	44	0.478528	1	0	0	0	0	0	0	0	1	--	--		0	T			EXD2_uc001xku.2_Splice_Site_p.E131_splice|EXD2_uc001xkv.2_Splice_Site_p.E386_splice|EXD2_uc001xkw.2_Splice_Site_p.E261_splice|EXD2_uc010aqt.2_Splice_Site_p.E386_splice|EXD2_uc010tte.1_Splice_Site_p.E386_splice|EXD2_uc001xky.2_Splice_Site_p.E261_splice	139	GBM-14-0817-TP	p.E261_splice	G	GGCATTGGTGGTATGAGATTC	NM_018199	NP_060669	69702870	Q9NVH0	EXD2_HUMAN	0			8	1440	+	T	T			Splice_Site							
EXD3	0	broad.mit.edu	GRCh37	9	140201615	140201615	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-1833-01	TCGA-27-1833-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340951.4:c.2418C>T	p.Ala806=	p.A806=	ENST00000340951	NM_017820.3	806	gcC/gcT	0			1			A	A	uc004cmp.2	protein_coding	YES	CCDS48066.1			2418/2631										0	c.(2416-2418)GCC>GCT				exonuclease 3'-5' domain containing 3				ENSP00000340474		22/22	9.23E-05		0.000775			0.000277	0.00299	9.86E-05	rs558615597,COSM3413489	22/22	common_variant		ENST00000340951	Transcript			nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	ENSG00000187609	g.chr9:140201615G>A	26023			LOW								--	--	1																																		C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Silent_p.A444A	0,1	1			p.A806A	NM_017820	NP_060290			0,1	MUT7_HUMAN	EXD3	HGNC	Q8N9H8	MUT7_HUMAN			E9PI94_HUMAN		22	2614	-			UPI00003676BC	806					SNV	EXD3,synonymous_variant,p.=,ENST00000340951,NM_017820.3;EXD3,synonymous_variant,p.=,ENST00000342129,;NRARP,upstream_gene_variant,,ENST00000356628,NM_001004354.2;EXD3,3_prime_UTR_variant,,ENST00000491734,;EXD3,non_coding_transcript_exon_variant,,ENST00000487745,;	uc004cmp.2	c.2418C>T	2614/2872	1	1			c.2418C>T						9	SNP	c.(2416-2418)GCC>GCT	56	56				0	Broad	exonuclease 3'-5' domain containing 3			140201615		0.697	ENSG00000187609	5213	g.chr9:140201615G>A	nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding							15.875418	KEEP	2	4	-1	7	0	2	4	-1	15.875418	7	0	0.5	1	0	0	0	0	0	0	1	0	--	--		0	A			C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Silent_p.A444A	192	GBM-27-1833-TP	p.A806A	G	GGGTGCCGTCGGCCAGCATGT	NM_017820	NP_060290	140201615	Q8N9H8	MUT7_HUMAN	0			22	2614	-	A	A			Silent	806						
EXOC1	55763	broad.mit.edu	GRCh37	4	56750010	56750010	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0129-01	TCGA-06-0129-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381295.2:c.1246C>T	p.Arg416Ter	p.R416*	ENST00000381295	NM_001024924.1	416	Cga/Tga	0			1			T	R/*	uc003hbe.1	protein_coding		CCDS3502.1			1246/2685									ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6	c.(1246-1248)CGA>TGA			Pfam_domain:PF09763,hmmpanther:PTHR16092,hmmpanther:PTHR16092:SF19	exocyst complex component 1 isoform 1				ENSP00000326514		19-Oct									COSM3409375	19-Oct	.		ENST00000346134	Transcript			exocytosis|protein transport	exocyst	protein binding	ENSG00000090989	g.chr4:56750010C>T	30380			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,4,56750010,C,T&fts=all	R416*	--	--	1																																		EXOC1_uc003hbf.1_Nonsense_Mutation_p.R416*|EXOC1_uc003hbg.1_Nonsense_Mutation_p.R416*	1				p.R416*	NM_018261	NP_060731			1	EXOC1_HUMAN	EXOC1	HGNC	Q9NV70	EXOC1_HUMAN					10	1404	+	Glioma(25;0.08)|all_neural(26;0.101)		UPI000013574F	416					SNV	EXOC1,stop_gained,p.Arg416Ter,ENST00000381295,NM_001024924.1;EXOC1,stop_gained,p.Arg416Ter,ENST00000346134,NM_018261.3;EXOC1,stop_gained,p.Arg416Ter,ENST00000349598,NM_178237.2;RNU6-652P,upstream_gene_variant,,ENST00000365488,;EXOC1,non_coding_transcript_exon_variant,,ENST00000511971,;EXOC1,non_coding_transcript_exon_variant,,ENST00000509302,;EXOC1,upstream_gene_variant,,ENST00000504321,;	uc003hbe.1	c.1246C>T	1379/3357	5	2			c.1246C>T						4	SNP	c.(1246-1248)CGA>TGA	42	42			ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6	Broad	exocyst complex component 1 isoform 1			56750010		0.299	ENSG00000090989	5215	g.chr4:56750010C>T	exocytosis|protein transport	exocyst	protein binding							17.204881	KEEP	3	4	-1	14	21	3	4	-1	20.757412	14	21	0.184211	1	0	0	0	0	0	1	0	0	--	--		0	T			EXOC1_uc003hbf.1_Nonsense_Mutation_p.R416*|EXOC1_uc003hbg.1_Nonsense_Mutation_p.R416*	15	GBM-06-0129-TP	p.R416*	C	TTATTTATCCCGACTATATGA	NM_018261	NP_060731	56750010	Q9NV70	EXOC1_HUMAN	0			10	1404	+	T	T	Glioma(25;0.08)|all_neural(26;0.101)		Nonsense_Mutation	416						
EXOC2	0	broad.mit.edu	GRCh37	6	619481	619481	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01	TCGA-12-3649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000230449.4:c.485G>A	p.Ser162Asn	p.S162N	ENST00000230449	NM_018303.5	162	aGt/aAt	0			1			T	S/N	uc003mtd.2	protein_coding	YES	CCDS34327.1			485/2775									breast(4)|ovary(2)|pancreas(1)	7	c.(484-486)AGT>AAT			hmmpanther:PTHR13043	Sec5 protein				ENSP00000230449		28-May									COSM3411231	28-May	.		ENST00000230449	Transcript			exocytosis|protein transport			ENSG00000112685	g.chr6:619481C>T	24968			MODERATE		0.9	low	getma.org/?cm=msa&ty=f&p=EXOC2_HUMAN&rb=93&re=292&var=S162N	NA	getma.org/?cm=var&var=hg19,6,619481,C,T&fts=all	S162N	--	--	1																																		EXOC2_uc003mte.2_Missense_Mutation_p.S162N|EXOC2_uc011dho.1_Intron	1	1		possibly_damaging(0.827)	p.S162N	NM_018303	NP_060773		tolerated(0.62)	1	EXOC2_HUMAN	EXOC2	HGNC	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	Q2MDF5_HUMAN,G8JLK9_HUMAN		5	619	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	UPI000003E7E3	162					SNV	EXOC2,missense_variant,p.Ser162Asn,ENST00000230449,NM_018303.5;EXOC2,intron_variant,,ENST00000448181,;	uc003mtd.2	c.485G>A	621/4449	1	1			c.485G>A						6	SNP	c.(484-486)AGT>AAT	4	4			breast(4)|ovary(2)|pancreas(1)	7	Broad	Sec5 protein			619481		0.378	ENSG00000112685	5216	g.chr6:619481C>T	exocytosis|protein transport									-7.845729	KEEP	5	4	-1	51	65	5	4	-1	14.602333	51	65	0.055556	1	0	0	0	0	1	0	0	0	--	--		0	T			EXOC2_uc003mte.2_Missense_Mutation_p.S162N|EXOC2_uc011dho.1_Intron	125	GBM-12-3649-TP	p.S162N	C	GAAATTCTCACTTGTAAAATC	NM_018303	NP_060773	619481	Q96KP1	EXOC2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	5	619	-	T	T	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	Missense_Mutation	162						
EXOC6	0	broad.mit.edu	GRCh37	10	94653171	94653171	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5950-01	TCGA-19-5950-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260762.6:c.167G>A	p.Arg56His	p.R56H	ENST00000260762	NM_019053.4	56	cGt/cAt	0			1			A	R/H	uc001kig.2	protein_coding	YES	CCDS7424.2			167/2415									skin(1)	1	c.(166-168)CGT>CAT			hmmpanther:PTHR12702:SF2,hmmpanther:PTHR12702,PIRSF_domain:PIRSF025007	SEC15-like 1 isoform a				ENSP00000260762		22-Feb	2.47E-05		8.72E-05			3.01E-05			rs748815462,COSM3397305,COSM3397306	22-Feb	.		ENST00000260762	Transcript			protein transport|vesicle docking involved in exocytosis	exocyst		ENSG00000138190	g.chr10:94653171G>A	23196			MODERATE		1.625	low	getma.org/?cm=msa&ty=f&p=EXOC6_HUMAN&rb=1&re=200&var=R56H	NA	getma.org/?cm=var&var=hg19,10,94653171,G,A&fts=all	R56H	--	--	1																																		EXOC6_uc010qnr.1_Missense_Mutation_p.R72H|EXOC6_uc001kie.2_Missense_Mutation_p.R51H|EXOC6_uc001kif.3_Missense_Mutation_p.R56H|EXOC6_uc009xub.2_Missense_Mutation_p.R56H|EXOC6_uc009xuc.2_Missense_Mutation_p.R56H	0,1,1	1		benign(0.107)	p.R56H	NM_019053	NP_061926		tolerated(0.15)	0,1,1	EXOC6_HUMAN	EXOC6	HGNC	Q8TAG9	EXOC6_HUMAN			Q9NTA6_HUMAN,H0Y5J8_HUMAN,B1AP46_HUMAN		2	233	+		Colorectal(252;0.123)	UPI0000141914	56					SNV	EXOC6,missense_variant,p.Arg51His,ENST00000371552,NM_001013848.2;EXOC6,missense_variant,p.Arg56His,ENST00000260762,NM_019053.4;EXOC6,missense_variant,p.Arg56His,ENST00000443748,;EXOC6,missense_variant,p.Arg72His,ENST00000371547,;EXOC6,missense_variant,p.Arg56His,ENST00000371543,;	uc001kig.2	c.167G>A	181/3564	2	2			c.167G>A						10	SNP	c.(166-168)CGT>CAT	33	33			skin(1)	1	Broad	SEC15-like 1 isoform a			94653171		0.333	ENSG00000138190	5222	g.chr10:94653171G>A	protein transport|vesicle docking involved in exocytosis	exocyst								-3.510154	KEEP	3	1	-1	21	31	3	1	-1	6.878875	21	31	0.058824	1	0	0	0	0	1	0	0	0	--	--		0	A			EXOC6_uc010qnr.1_Missense_Mutation_p.R72H|EXOC6_uc001kie.2_Missense_Mutation_p.R51H|EXOC6_uc001kif.3_Missense_Mutation_p.R56H|EXOC6_uc009xub.2_Missense_Mutation_p.R56H|EXOC6_uc009xuc.2_Missense_Mutation_p.R56H	170	GBM-19-5950-TP	p.R56H	G	GCTTGTATCCGTAATCATGAC	NM_019053	NP_061926	94653171	Q8TAG9	EXOC6_HUMAN	0			2	233	+	A	A		Colorectal(252;0.123)	Missense_Mutation	56						
EXOC6B	0	broad.mit.edu	GRCh37	2	72692422	72692422	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-26-1439-01	TCGA-26-1439-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000272427.6:c.1847A>T	p.Gln616Leu	p.Q616L	ENST00000272427	NM_015189.1	616	cAg/cTg	0			1			A	Q/L	uc010fep.2	protein_coding	YES	CCDS46333.1			1847/2436									central_nervous_system(2)	2	c.(1846-1848)CAG>CTG			Pfam_domain:PF04091,PIRSF_domain:PIRSF025007,hmmpanther:PTHR12702,hmmpanther:PTHR12702:SF3	SEC15-like 2				ENSP00000272427		18/22									COSM3407968,COSM3407967	18/22	.		ENST00000272427	Transcript			protein transport|vesicle docking involved in exocytosis	exocyst		ENSG00000144036	g.chr2:72692422T>A	17085			MODERATE		2.34	medium	getma.org/?cm=msa&ty=f&p=EXC6B_HUMAN&rb=464&re=772&var=Q616L	getma.org/pdb.php?prot=EXC6B_HUMAN&from=464&to=772&var=Q616L	getma.org/?cm=var&var=hg19,2,72692422,T,A&fts=all	Q616L	--	--	1																																		EXOC6B_uc002sij.2_Missense_Mutation_p.Q616L	1,1	1		benign(0.193)	p.Q616L	NM_015189	NP_056004		tolerated(0.3)	1,1	EXC6B_HUMAN	EXOC6B	HGNC	Q9Y2D4	EXC6B_HUMAN			Q9H8D6_HUMAN		18	1985	-			UPI000046995C	616					SNV	EXOC6B,missense_variant,p.Gln616Leu,ENST00000272427,NM_015189.1;EXOC6B,missense_variant,p.Gln616Leu,ENST00000410104,;EXOC6B,non_coding_transcript_exon_variant,,ENST00000464347,;	uc010fep.2	c.1847A>T	1978/5918	2	2			c.1847A>T						2	SNP	c.(1846-1848)CAG>CTG	47	47			central_nervous_system(2)	2	Broad	SEC15-like 2			72692422		0.393	ENSG00000144036	5223	g.chr2:72692422T>A	protein transport|vesicle docking involved in exocytosis	exocyst								2.602839	KEEP	1	2	-1	15	12	1	2	-1	6.894447	15	12	0.107143	1	0	0	0	0	1	0	0	0	--	--		0	A			EXOC6B_uc002sij.2_Missense_Mutation_p.Q616L	179	GBM-26-1439-TP	p.Q616L	T	GTCAATCTTCTGGTTTAAGTT	NM_015189	NP_056004	72692422	Q9Y2D4	EXC6B_HUMAN	0			18	1985	-	A	A			Missense_Mutation	616						
EXOC7	23265	broad.mit.edu	GRCh37	17	74094004	74094004	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0139-01	TCGA-06-0139-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335146.7:c.513G>T	p.Leu171Phe	p.L171F	ENST00000335146		171	ttG/ttT	0			1			A	L/F	uc002jqs.2	protein_coding	YES	CCDS45782.1			513/2208										0	c.(511-513)TTG>TTT			hmmpanther:PTHR12542,hmmpanther:PTHR12542:SF7,Low_complexity_(Seg):seg,Superfamily_domains:SSF74788	exocyst complex component 7 isoform 4				ENSP00000334100		20-May									COSM3403230,COSM3403229	20-May	.		ENST00000335146	Transcript			exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding	ENSG00000182473	g.chr17:74094004C>A	23214			MODERATE		0.85	low	getma.org/?cm=msa&ty=f&p=EXOC7_HUMAN&rb=1&re=200&var=L171F	getma.org/pdb.php?prot=EXOC7_HUMAN&from=1&to=200&var=L171F	getma.org/?cm=var&var=hg19,17,74094004,C,A&fts=all	L171F	--	--	1																																		EXOC7_uc010dgv.1_Missense_Mutation_p.L118F|EXOC7_uc002jqq.2_Missense_Mutation_p.L171F|EXOC7_uc010wsw.1_Missense_Mutation_p.L171F|EXOC7_uc010wsx.1_Missense_Mutation_p.L171F|EXOC7_uc002jqr.2_Missense_Mutation_p.L171F|EXOC7_uc010wsv.1_Missense_Mutation_p.L130F|EXOC7_uc002jqu.2_Missense_Mutation_p.L171F	1,1	1		benign(0.339)	p.L171F	NM_001145297	NP_001138769		deleterious(0.01)	1,1	EXOC7_HUMAN	EXOC7	HGNC	Q9UPT5	EXOC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		C9JME6_HUMAN,C9JKC2_HUMAN		5	608	-			UPI00001AFC78	171					SNV	EXOC7,missense_variant,p.Leu171Phe,ENST00000607838,NM_001145299.2,NM_001145297.2,NM_001145298.2;EXOC7,missense_variant,p.Leu171Phe,ENST00000589210,NM_001013839.2;EXOC7,missense_variant,p.Leu171Phe,ENST00000332065,NM_015219.3;EXOC7,missense_variant,p.Leu171Phe,ENST00000335146,;EXOC7,missense_variant,p.Leu130Phe,ENST00000467929,;EXOC7,missense_variant,p.Leu171Phe,ENST00000405575,;EXOC7,missense_variant,p.Leu171Phe,ENST00000411744,;EXOC7,missense_variant,p.Leu126Phe,ENST00000357231,;EXOC7,missense_variant,p.Leu118Phe,ENST00000442951,;EXOC7,missense_variant,p.Leu56Phe,ENST00000420116,;EXOC7,downstream_gene_variant,,ENST00000589507,;EXOC7,downstream_gene_variant,,ENST00000406660,NM_001282314.1;EXOC7,non_coding_transcript_exon_variant,,ENST00000405068,;EXOC7,upstream_gene_variant,,ENST00000592559,;	uc002jqs.2	c.513G>T	567/3519	1	1			c.513G>T						17	SNP	c.(511-513)TTG>TTT	64	64				0	Broad	exocyst complex component 7 isoform 4			74094004		0.602	ENSG00000182473	5224	g.chr17:74094004C>A	exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding							-3.621862	KEEP	6	5	0.454545455	82	37	6	5	0.454545455	17.829593	82	37	0.076923	1	0	0	0	0	1	0	0	0	--	--		0	A			EXOC7_uc010dgv.1_Missense_Mutation_p.L118F|EXOC7_uc002jqq.2_Missense_Mutation_p.L171F|EXOC7_uc010wsw.1_Missense_Mutation_p.L171F|EXOC7_uc010wsx.1_Missense_Mutation_p.L171F|EXOC7_uc002jqr.2_Missense_Mutation_p.L171F|EXOC7_uc010wsv.1_Missense_Mutation_p.L130F|EXOC7_uc002jqu.2_Missense_Mutation_p.L171F	19	GBM-06-0139-TP	p.L171F	C	TGATCAGATCCAAGATGAGCA	NM_001145297	NP_001138769	74094004	Q9UPT5	EXOC7_HUMAN	0	LUSC - Lung squamous cell carcinoma(166;0.187)		5	608	-	A	A			Missense_Mutation	171						
EXOC7	0	broad.mit.edu	GRCh37	17	74084564	74084564	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-28-5220-01	TCGA-28-5220-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335146.7:c.1433A>C	p.Asp478Ala	p.D478A	ENST00000335146		478	gAc/gCc	0			1			G	D/A	uc002jqs.2	protein_coding	YES	CCDS45782.1			1433/2208										0	c.(1432-1434)GAC>GCC			Pfam_domain:PF03081,hmmpanther:PTHR12542,hmmpanther:PTHR12542:SF7,Superfamily_domains:SSF74788	exocyst complex component 7 isoform 4				ENSP00000334100		20-Nov									COSM3748029,COSM3748028	20-Nov	.		ENST00000335146	Transcript			exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding	ENSG00000182473	g.chr17:74084564T>G	23214			MODERATE		0.755	neutral	getma.org/?cm=msa&ty=f&p=EXOC7_HUMAN&rb=360&re=730&var=D478A	getma.org/pdb.php?prot=EXOC7_HUMAN&from=360&to=730&var=D478A	getma.org/?cm=var&var=hg19,17,74084564,T,G&fts=all	D478A	--	--	1																																		EXOC7_uc010dgv.1_Missense_Mutation_p.D374A|EXOC7_uc002jqq.2_Missense_Mutation_p.D427A|EXOC7_uc010wsw.1_Missense_Mutation_p.D450A|EXOC7_uc010wsx.1_Missense_Mutation_p.D419A|EXOC7_uc002jqr.2_Missense_Mutation_p.D396A|EXOC7_uc010wsv.1_Missense_Mutation_p.D386A	1,1	1		benign(0.186)	p.D478A	NM_001145297	NP_001138769		deleterious(0.01)	1,1	EXOC7_HUMAN	EXOC7	HGNC	Q9UPT5	EXOC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		C9JME6_HUMAN,C9JKC2_HUMAN		11	1528	-			UPI00001AFC78	478					SNV	EXOC7,missense_variant,p.Asp450Ala,ENST00000607838,NM_001145299.2,NM_001145297.2,NM_001145298.2;EXOC7,missense_variant,p.Asp427Ala,ENST00000589210,NM_001013839.2;EXOC7,missense_variant,p.Asp396Ala,ENST00000332065,NM_015219.3;EXOC7,missense_variant,p.Asp478Ala,ENST00000335146,;EXOC7,missense_variant,p.Asp386Ala,ENST00000467929,;EXOC7,missense_variant,p.Asp450Ala,ENST00000405575,;EXOC7,missense_variant,p.Asp419Ala,ENST00000411744,;EXOC7,missense_variant,p.Asp382Ala,ENST00000357231,;EXOC7,3_prime_UTR_variant,,ENST00000592559,;EXOC7,non_coding_transcript_exon_variant,,ENST00000467586,;EXOC7,upstream_gene_variant,,ENST00000465252,;EXOC7,downstream_gene_variant,,ENST00000405068,;ZACN,downstream_gene_variant,,ENST00000590045,;EXOC7,upstream_gene_variant,,ENST00000460476,;EXOC7,upstream_gene_variant,,ENST00000494787,;EXOC7,upstream_gene_variant,,ENST00000486053,;	uc002jqs.2	c.1433A>C	1487/3519	4	4			c.1433A>C						17	SNP	c.(1432-1434)GAC>GCC	24	24				0	Broad	exocyst complex component 7 isoform 4			74084564		0.632	ENSG00000182473	5224	g.chr17:74084564T>G	exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding							101.776667	KEEP	15	18	-1	12	21	15	18	-1	101.790937	12	21	0.483333	1	0	0	0	0	1	0	0	0	--	--		0	G			EXOC7_uc010dgv.1_Missense_Mutation_p.D374A|EXOC7_uc002jqq.2_Missense_Mutation_p.D427A|EXOC7_uc010wsw.1_Missense_Mutation_p.D450A|EXOC7_uc010wsx.1_Missense_Mutation_p.D419A|EXOC7_uc002jqr.2_Missense_Mutation_p.D396A|EXOC7_uc010wsv.1_Missense_Mutation_p.D386A	226	GBM-28-5220-TP	p.D478A	T	GTCTGCGAAGTCCTCCAGCGC	NM_001145297	NP_001138769	74084564	Q9UPT5	EXOC7_HUMAN	0	LUSC - Lung squamous cell carcinoma(166;0.187)		11	1528	-	G	G			Missense_Mutation	478						
EXOSC10	0	broad.mit.edu	GRCh37	1	11151619	11151619	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs146190133		TCGA-14-1829-01	TCGA-14-1829-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376936.4:c.408G>C	p.Lys136Asn	p.K136N	ENST00000376936	NM_001001998.1	136	aaG/aaC	0			1			G	K/N	uc001asa.2	protein_coding	YES	CCDS30584.1			408/2658									upper_aerodigestive_tract(1)	1	c.(406-408)AAG>AAC			hmmpanther:PTHR12124,hmmpanther:PTHR12124:SF42	exosome component 10 isoform 1				ENSP00000366135		25-Apr									COSM3399535,COSM3399536	25-Apr	.		ENST00000376936	Transcript			CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	ENSG00000171824	g.chr1:11151619C>G	9138			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=EXOSX_HUMAN&rb=135&re=287&var=K136N	NA	getma.org/?cm=var&var=hg19,1,11151619,C,G&fts=all	K136N	--	--	1																																		EXOSC10_uc001asb.2_Missense_Mutation_p.K136N|EXOSC10_uc009vmy.1_Missense_Mutation_p.K136N	1,1	1		possibly_damaging(0.821)	p.K136N	NM_001001998	NP_001001998		deleterious(0)	1,1	EXOSX_HUMAN	EXOSC10	HGNC	Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	K7EJ37_HUMAN,B4DFE4_HUMAN		4	458	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	UPI0000001C90	136					SNV	EXOSC10,missense_variant,p.Lys136Asn,ENST00000544779,;EXOSC10,missense_variant,p.Lys136Asn,ENST00000376936,NM_001001998.1;EXOSC10,missense_variant,p.Lys136Asn,ENST00000304457,NM_002685.2;EXOSC10,3_prime_UTR_variant,,ENST00000460196,;	uc001asa.2	c.408G>C	458/2808	4	4			c.408G>C						1	SNP	c.(406-408)AAG>AAC	29	29			upper_aerodigestive_tract(1)	1	Broad	exosome component 10 isoform 1			11151619		0.458	ENSG00000171824	5228	g.chr1:11151619C>G	CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	Colon(179;105 1987 14326 27364 29542)			Colon(179;105 1987 14326 27364 29542)			95.591075	KEEP	21	12	-1	33	37	21	12	-1	98.264045	33	37	0.322917	1	0	0	0	0	1	0	0	0	--	--		0	G			EXOSC10_uc001asb.2_Missense_Mutation_p.K136N|EXOSC10_uc009vmy.1_Missense_Mutation_p.K136N	149	GBM-14-1829-TP	p.K136N	C	GCTGTTGATTCTTGTTTACAC	NM_001001998	NP_001001998	11151619	Q01780	EXOSX_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	4	458	-	G	G	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	136						
EXOSC5	0	broad.mit.edu	GRCh37	19	41895788	41895788	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5218-01	TCGA-28-5218-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221233.4:c.407C>T	p.Ala136Val	p.A136V	ENST00000221233	NM_020158.3	136	gCc/gTc	0			1			A	A/V	uc002oqo.2	protein_coding	YES	CCDS12580.1			407/708										0	c.(406-408)GCC>GTC			Low_complexity_(Seg):seg,hmmpanther:PTHR11953:SF1,hmmpanther:PTHR11953,Pfam_domain:PF01138,Gene3D:1e3hA01,Superfamily_domains:SSF54211	exosome component Rrp46				ENSP00000221233		6-Apr									COSM1494257	6-Apr	.		ENST00000221233	Transcript			DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding	ENSG00000077348	g.chr19:41895788G>A	24662			MODERATE		2.765	medium	getma.org/?cm=msa&ty=f&p=EXOS5_HUMAN&rb=27&re=147&var=A136V	getma.org/pdb.php?prot=EXOS5_HUMAN&from=27&to=147&var=A136V	getma.org/?cm=var&var=hg19,19,41895788,G,A&fts=all	A136V	--	--	1																																		CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Intron	1	1		benign(0.33)	p.A136V	NM_020158	NP_064543		deleterious(0.02)	1	EXOS5_HUMAN	EXOSC5	HGNC	Q9NQT4	EXOS5_HUMAN					4	430	-			UPI0000134940	136					SNV	EXOSC5,missense_variant,p.Ala136Val,ENST00000221233,NM_020158.3;EXOSC5,missense_variant,p.Ala98Val,ENST00000596905,;CTC-435M10.3,intron_variant,,ENST00000540732,;BCKDHA,intron_variant,,ENST00000595085,;EXOSC5,intron_variant,,ENST00000602129,;EXOSC5,downstream_gene_variant,,ENST00000593771,;CTC-435M10.3,intron_variant,,ENST00000604424,;EXOSC5,downstream_gene_variant,,ENST00000593523,;	uc002oqo.2	c.407C>T	558/1118	1	1			c.407C>T						19	SNP	c.(406-408)GCC>GTC	51	51				0	Broad	exosome component Rrp46			41895788		0.448	ENSG00000077348	5232	g.chr19:41895788G>A	DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding							-26.827418	KEEP	2	3	-1	69	81	2	3	-1	6.574509	69	81	0.029197	1	0	0	0	0	1	0	0	0	--	--		0	A			CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Intron	224	GBM-28-5218-TP	p.A136V	G	CATGCAGGCGGCATTCAGACA	NM_020158	NP_064543	41895788	Q9NQT4	EXOS5_HUMAN	0			4	430	-	A	A			Missense_Mutation	136						
EXOSC8	0	broad.mit.edu	GRCh37	13	37580266	37580266	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-12-1597-01	TCGA-12-1597-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389704.3:c.359A>C	p.Gln120Pro	p.Q120P	ENST00000389704	NM_181503.2	120	cAg/cCg	0			1			C	Q/P	uc001uwa.2	protein_coding	YES	CCDS31958.1			359/831									pancreas(1)	1	c.(358-360)CAG>CCG			Gene3D:1e3hA01,Pfam_domain:PF01138,hmmpanther:PTHR11097,hmmpanther:PTHR11097:SF9,Superfamily_domains:SSF54211	exosome component 8				ENSP00000374354		11-Jul									COSM3399357	11-Jul	.		ENST00000389704	Transcript	1		exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	AU-rich element binding|identical protein binding	ENSG00000120699	g.chr13:37580266A>C	17035			MODERATE		-0.295	neutral	getma.org/?cm=msa&ty=f&p=EXOS8_HUMAN&rb=31&re=166&var=Q120P	getma.org/pdb.php?prot=EXOS8_HUMAN&from=31&to=166&var=Q120P	getma.org/?cm=var&var=hg19,13,37580266,A,C&fts=all	Q120P	--	--	1																																		EXOSC8_uc001uvz.2_RNA|EXOSC8_uc001uwb.2_Missense_Mutation_p.Q120P|EXOSC8_uc001uwc.2_RNA	1	1		benign(0.002)	p.Q120P	NM_181503	NP_852480		tolerated(0.12)	1	EXOS8_HUMAN	EXOSC8	HGNC	Q96B26	EXOS8_HUMAN		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)			7	624	+		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	UPI000004A07D	120					SNV	EXOSC8,missense_variant,p.Gln120Pro,ENST00000389704,NM_181503.2;SUPT20H,downstream_gene_variant,,ENST00000360252,NM_001278481.1,NM_017569.3;SUPT20H,downstream_gene_variant,,ENST00000475892,NM_001278480.1;SUPT20H,downstream_gene_variant,,ENST00000350612,NM_001014286.2;SUPT20H,downstream_gene_variant,,ENST00000356185,;SUPT20H,downstream_gene_variant,,ENST00000464744,NM_001278482.1;SUPT20H,downstream_gene_variant,,ENST00000469488,;EXOSC8,upstream_gene_variant,,ENST00000481013,;EXOSC8,non_coding_transcript_exon_variant,,ENST00000489088,;EXOSC8,non_coding_transcript_exon_variant,,ENST00000474661,;EXOSC8,non_coding_transcript_exon_variant,,ENST00000488779,;EXOSC8,non_coding_transcript_exon_variant,,ENST00000464235,;EXOSC8,downstream_gene_variant,,ENST00000488108,;EXOSC8,downstream_gene_variant,,ENST00000470423,;EXOSC8,3_prime_UTR_variant,,ENST00000239893,;EXOSC8,non_coding_transcript_exon_variant,,ENST00000490537,;EXOSC8,non_coding_transcript_exon_variant,,ENST00000495092,;SUPT20H,downstream_gene_variant,,ENST00000490716,;SUPT20H,downstream_gene_variant,,ENST00000495071,;SUPT20H,downstream_gene_variant,,ENST00000473871,;SUPT20H,downstream_gene_variant,,ENST00000484078,;SUPT20H,downstream_gene_variant,,ENST00000472948,;	uc001uwa.2	c.359A>C	624/1198	3	3			c.359A>C						13	SNP	c.(358-360)CAG>CCG	55	55			pancreas(1)	1	Broad	exosome component 8			37580266		0.318	ENSG00000120699	5234	g.chr13:37580266A>C	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	AU-rich element binding|identical protein binding							12.312032	KEEP	6	5	-1	49	44	6	5	-1	24.674554	49	44	0.109756	1	0	0	0	0	1	0	0	0	--	--		0	C			EXOSC8_uc001uvz.2_RNA|EXOSC8_uc001uwb.2_Missense_Mutation_p.Q120P|EXOSC8_uc001uwc.2_RNA	124	GBM-12-1597-TP	p.Q120P	A	CAGATAATTCAGAAAGAGGAC	NM_181503	NP_852480	37580266	Q96B26	EXOS8_HUMAN	0		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)	7	624	+	C	C		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	Missense_Mutation	120						
EXPH5	23086	broad.mit.edu	GRCh37	11	108380635	108380635	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01	TCGA-02-0047-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265843.4:c.5599C>T	p.Arg1867Cys	p.R1867C	ENST00000265843	NM_015065.2	1867	Cgc/Tgc	0			1			A	R/C	uc001pkk.2	protein_coding	YES	CCDS8341.1			5599/5970									skin(3)|ovary(2)	5	c.(5599-5601)CGC>TGC			hmmpanther:PTHR21469	exophilin 5 isoform a				ENSP00000265843		6-Jun	2.47E-05	9.65E-05	8.64E-05		0.000151				rs747342461,COSM3397399	6-Jun	.		ENST00000265843	Transcript	1		intracellular protein transport		Rab GTPase binding	ENSG00000110723	g.chr11:108380635G>A	30578			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=EXPH5_HUMAN&rb=1&re=1987&var=R1867C	NA	getma.org/?cm=var&var=hg19,11,108380635,G,A&fts=all	R1867C	--	--	1																																		EXPH5_uc010rvy.1_Missense_Mutation_p.R1679C|EXPH5_uc010rvz.1_Missense_Mutation_p.R1711C|EXPH5_uc010rwa.1_Missense_Mutation_p.R1791C	0,1	1		possibly_damaging(0.72)	p.R1867C	NM_015065	NP_055880		tolerated(0.11)	0,1	EXPH5_HUMAN	EXPH5	HGNC	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	F5GXG5_HUMAN,E9PPH6_HUMAN,E9PIT1_HUMAN,E9PC93_HUMAN,E7ENT4_HUMAN		6	5710	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	UPI000013D692	1867					SNV	EXPH5,missense_variant,p.Arg1867Cys,ENST00000265843,NM_015065.2;EXPH5,missense_variant,p.Arg1791Cys,ENST00000428840,;EXPH5,missense_variant,p.Arg1679Cys,ENST00000443411,;EXPH5,missense_variant,p.Arg1860Cys,ENST00000525344,;EXPH5,downstream_gene_variant,,ENST00000526312,;EXPH5,downstream_gene_variant,,ENST00000533052,;EXPH5,downstream_gene_variant,,ENST00000524840,;	uc001pkk.2	c.5599C>T	5710/10187	2	2			c.5599C>T						11	SNP	c.(5599-5601)CGC>TGC	36	36			skin(3)|ovary(2)	5	Broad	exophilin 5 isoform a			108380635		0.428	ENSG00000110723	5236	g.chr11:108380635G>A	intracellular protein transport		Rab GTPase binding							-6.167803	KEEP	6	4	-1	64	73	6	4	-1	20.606747	64	73	0.070922	1	0	0	0	0	1	0	0	0	--	--		0	A			EXPH5_uc010rvy.1_Missense_Mutation_p.R1679C|EXPH5_uc010rvz.1_Missense_Mutation_p.R1711C|EXPH5_uc010rwa.1_Missense_Mutation_p.R1791C	3	GBM-02-0047-TP	p.R1867C	G	GTCCCGCTGCGATAAGCCCAA	NM_015065	NP_055880	108380635	Q8NEV8	EXPH5_HUMAN	0		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	5710	-	A	A		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	Missense_Mutation	1867						
EXPH5	23086	broad.mit.edu	GRCh37	11	108382300	108382300	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0129-01	TCGA-06-0129-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265843.4:c.3934G>A	p.Glu1312Lys	p.E1312K	ENST00000265843	NM_015065.2	1312	Gaa/Aaa	0			1			T	E/K	uc001pkk.2	protein_coding	YES	CCDS8341.1			3934/5970									skin(3)|ovary(2)	5	c.(3934-3936)GAA>AAA			hmmpanther:PTHR21469	exophilin 5 isoform a				ENSP00000265843		6-Jun									COSM2149500	6-Jun	.		ENST00000265843	Transcript	1		intracellular protein transport		Rab GTPase binding	ENSG00000110723	g.chr11:108382300C>T	30578			MODERATE		0.51	neutral	getma.org/?cm=msa&ty=f&p=EXPH5_HUMAN&rb=1&re=1987&var=E1312K	NA	getma.org/?cm=var&var=hg19,11,108382300,C,T&fts=all	E1312K	--	--	1																																		EXPH5_uc010rvy.1_Missense_Mutation_p.E1124K|EXPH5_uc010rvz.1_Missense_Mutation_p.E1156K|EXPH5_uc010rwa.1_Missense_Mutation_p.E1236K	1	1		benign(0.046)	p.E1312K	NM_015065	NP_055880		tolerated(0.13)	1	EXPH5_HUMAN	EXPH5	HGNC	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	F5GXG5_HUMAN,E9PPH6_HUMAN,E9PIT1_HUMAN,E9PC93_HUMAN,E7ENT4_HUMAN		6	4045	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	UPI000013D692	1312					SNV	EXPH5,missense_variant,p.Glu1312Lys,ENST00000265843,NM_015065.2;EXPH5,missense_variant,p.Glu1236Lys,ENST00000428840,;EXPH5,missense_variant,p.Glu1124Lys,ENST00000443411,;EXPH5,missense_variant,p.Glu1305Lys,ENST00000525344,;EXPH5,missense_variant,p.Glu1236Lys,ENST00000526312,;EXPH5,missense_variant,p.Glu1124Lys,ENST00000533052,;EXPH5,downstream_gene_variant,,ENST00000524840,;	uc001pkk.2	c.3934G>A	4045/10187	2	2			c.3934G>A						11	SNP	c.(3934-3936)GAA>AAA	32	32			skin(3)|ovary(2)	5	Broad	exophilin 5 isoform a			108382300		0.413	ENSG00000110723	5236	g.chr11:108382300C>T	intracellular protein transport		Rab GTPase binding							107.102314	KEEP	26	18	-1	71	57	26	18	-1	114.873544	71	57	0.264516	1	0	0	0	0	1	0	0	0	--	--		0	T			EXPH5_uc010rvy.1_Missense_Mutation_p.E1124K|EXPH5_uc010rvz.1_Missense_Mutation_p.E1156K|EXPH5_uc010rwa.1_Missense_Mutation_p.E1236K	15	GBM-06-0129-TP	p.E1312K	C	TTTAGATTTTCACATGAAGGT	NM_015065	NP_055880	108382300	Q8NEV8	EXPH5_HUMAN	0		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	4045	-	T	T		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	Missense_Mutation	1312						
EXPH5	0	broad.mit.edu	GRCh37	11	108383232	108383232	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-32-2634-01	TCGA-32-2634-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265843.4:c.3002delG	p.Ser1001ThrfsTer40	p.S1001Tfs*40	ENST00000265843	NM_015065.2	1001	aGc/ac	0			1			-	S/X	uc001pkk.2	protein_coding	YES	CCDS8341.1			3002/5970									skin(3)|ovary(2)	5	c.(3001-3003)AGCfs			hmmpanther:PTHR21469	exophilin 5 isoform a				ENSP00000265843		6-Jun										6-Jun	.		ENST00000265843	Transcript	1		intracellular protein transport		Rab GTPase binding	ENSG00000110723	g.chr11:108383232delC	30578			HIGH								--	--	1																																		EXPH5_uc010rvy.1_Frame_Shift_Del_p.S813fs|EXPH5_uc010rvz.1_Frame_Shift_Del_p.S845fs|EXPH5_uc010rwa.1_Frame_Shift_Del_p.S925fs		1			p.S1001fs	NM_015065	NP_055880				EXPH5_HUMAN	EXPH5	HGNC	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	F5GXG5_HUMAN,E9PPH6_HUMAN,E9PIT1_HUMAN,E9PC93_HUMAN,E7ENT4_HUMAN		6	3113	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	UPI000013D692	1001					deletion	EXPH5,frameshift_variant,p.Ser1001ThrfsTer40,ENST00000265843,NM_015065.2;EXPH5,frameshift_variant,p.Ser925ThrfsTer40,ENST00000428840,;EXPH5,frameshift_variant,p.Ser813ThrfsTer40,ENST00000443411,;EXPH5,frameshift_variant,p.Ser994ThrfsTer40,ENST00000525344,;EXPH5,frameshift_variant,p.Ser925ThrfsTer40,ENST00000526312,;EXPH5,frameshift_variant,p.Ser813ThrfsTer40,ENST00000533052,;EXPH5,downstream_gene_variant,,ENST00000524840,;	uc001pkk.2	c.3002delG	3113/10187	5	5			c.3002delG						11	DEL	c.(3001-3003)AGCfs	5	5			skin(3)|ovary(2)	5	Broad	exophilin 5 isoform a			108383232		0.363	ENSG00000110723	5236	g.chr11:108383232delC	intracellular protein transport		Rab GTPase binding																				0.44	1	1	0	1	0	0	0	0	0	--	--		0	-			EXPH5_uc010rvy.1_Frame_Shift_Del_p.S813fs|EXPH5_uc010rvz.1_Frame_Shift_Del_p.S845fs|EXPH5_uc010rwa.1_Frame_Shift_Del_p.S925fs	241	GBM-32-2634-TP	p.S1001fs	C	TTCAATGAGGCTCCTGTGATC	NM_015065	NP_055880	108383232	Q8NEV8	EXPH5_HUMAN	0		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	3113	-	-	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	Frame_Shift_Del	1001						
EXTL1	2134	broad.mit.edu	GRCh37	1	26360290	26360290	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0881-01	TCGA-06-0881-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374280.3:c.1622C>T	p.Thr541Ile	p.T541I	ENST00000374280	NM_004455.2	541	aCt/aTt	0			1			T	T/I	uc001blf.2	protein_coding	YES	CCDS271.1			1622/2031									central_nervous_system(1)	1	c.(1621-1623)ACT>ATT			hmmpanther:PTHR11062:SF8,hmmpanther:PTHR11062,Pfam_domain:PF09258,Gene3D:3.90.550.10,Superfamily_domains:SSF53448	exostoses-like 1				ENSP00000363398		11-Sep									COSM3400635	11-Sep	.		ENST00000374280	Transcript			skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	ENSG00000158008	g.chr1:26360290C>T	3515			MODERATE		2.58	medium	getma.org/?cm=msa&ty=f&p=EXTL1_HUMAN&rb=419&re=659&var=T541I	getma.org/pdb.php?prot=EXTL1_HUMAN&from=419&to=659&var=T541I	getma.org/?cm=var&var=hg19,1,26360290,C,T&fts=all	T541I	--	--	1																																			1	1		probably_damaging(0.966)	p.T541I	NM_004455	NP_004446		deleterious(0)	1	EXTL1_HUMAN	EXTL1	HGNC	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)			9	2489	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	UPI000013DF48	541			Lumenal (Potential).		SNV	EXTL1,missense_variant,p.Thr541Ile,ENST00000374280,NM_004455.2;SLC30A2,downstream_gene_variant,,ENST00000374278,NM_032513.3;SLC30A2,downstream_gene_variant,,ENST00000374276,NM_001004434.1;EXTL1,non_coding_transcript_exon_variant,,ENST00000470037,;EXTL1,downstream_gene_variant,,ENST00000484339,;EXTL1,downstream_gene_variant,,ENST00000481377,;	uc001blf.2	c.1622C>T	2489/4015	2	2			c.1622C>T						1	SNP	c.(1621-1623)ACT>ATT	44	44			central_nervous_system(1)	1	Broad	exostoses-like 1			26360290		0.577	ENSG00000158008	5239	g.chr1:26360290C>T	skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding							-8.035868	KEEP	3	6	-1	100	53	3	6	-1	20.41146	100	53	0.062937	1	0	0	0	0	1	0	0	0	--	--		0	T				76	GBM-06-0881-TP	p.T541I	C	TGGGGCTACACTGCTGAGAGG	NM_004455	NP_004446	26360290	Q92935	EXTL1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	9	2489	+	T	T		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	Missense_Mutation	541			Lumenal (Potential).			
EYA1	2138	broad.mit.edu	GRCh37	8	72127864	72127864	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs139717960	byFrequency	TCGA-06-0241-01	TCGA-06-0241-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340726.3:c.1460C>T	p.Ser487Leu	p.S487L	ENST00000340726	NM_000503.4	487	tCg/tTg	0	A:0	A:0	1	A:0.0014		A	S/L	uc003xys.3	protein_coding	YES	CCDS34906.1			1460/1779								p.S487L(1)	ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	c.(1459-1461)TCG>TTG			TIGRFAM_domain:TIGR01658,hmmpanther:PTHR10190:SF11,hmmpanther:PTHR10190	eyes absent 1 isoform b		A:0	A:0.0008	ENSP00000342626	A:0.002	15/18	0.000717	9.61E-05	0.000173			0.00124		6.06E-05	rs139717960,COSM43006	15/18	common_variant		ENST00000340726	Transcript	1	A:0.0006	double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	ENSG00000104313	g.chr8:72127864G>A	3519			MODERATE		1.115	low	getma.org/?cm=msa&ty=f&p=EYA1_HUMAN&rb=1&re=590&var=S487L	getma.org/pdb.php?prot=EYA1_HUMAN&from=1&to=590&var=S487L	getma.org/?cm=var&var=hg19,8,72127864,G,A&fts=all	S487L	--	--	1																																		EYA1_uc003xyr.3_Missense_Mutation_p.S452L|EYA1_uc003xyt.3_Missense_Mutation_p.S454L|EYA1_uc010lzf.2_Missense_Mutation_p.S414L|EYA1_uc003xyu.2_Missense_Mutation_p.S487L|EYA1_uc011lfe.1_Missense_Mutation_p.S481L|EYA1_uc003xyv.2_Missense_Mutation_p.S365L	0,1	1		benign(0.072)	p.S487L	NM_172058	NP_742055	A:0	tolerated(0.59)	0,1	EYA1_HUMAN	EYA1	HGNC	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		Q4A4D0_HUMAN		14	1747	-	Breast(64;0.046)		UPI000012A3B3	487		S -> P (in BOR1).			SNV	EYA1,missense_variant,p.Ser487Leu,ENST00000340726,NM_000503.4,NM_001288574.1;EYA1,missense_variant,p.Ser481Leu,ENST00000303824,;EYA1,missense_variant,p.Ser487Leu,ENST00000388742,NM_172058.2,NM_172059.2;EYA1,missense_variant,p.Ser454Leu,ENST00000388740,NM_172060.2;EYA1,missense_variant,p.Ser453Leu,ENST00000388741,;EYA1,missense_variant,p.Ser486Leu,ENST00000388743,;EYA1,missense_variant,p.Ser452Leu,ENST00000419131,;EYA1,3_prime_UTR_variant,,ENST00000465115,NM_001288575.1;EYA1,3_prime_UTR_variant,,ENST00000493349,;EYA1,non_coding_transcript_exon_variant,,ENST00000496494,;	uc003xys.3	c.1460C>T	2100/4326	2	2			c.1460C>T						8	SNP	c.(1459-1461)TCG>TTG	46	46		p.S487L(1)	ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Broad	eyes absent 1 isoform b			72127864		0.532	ENSG00000104313	5242	g.chr8:72127864G>A	double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity							231.189668	KEEP	43	55	-1	66	76	43	55	-1	232.954912	66	76	0.39899	1	0	0	0	0	1	0	0	0	--	--		0	A			EYA1_uc003xyr.3_Missense_Mutation_p.S452L|EYA1_uc003xyt.3_Missense_Mutation_p.S454L|EYA1_uc010lzf.2_Missense_Mutation_p.S414L|EYA1_uc003xyu.2_Missense_Mutation_p.S487L|EYA1_uc011lfe.1_Missense_Mutation_p.S481L|EYA1_uc003xyv.2_Missense_Mutation_p.S365L	57	GBM-06-0241-TP	p.S487L	G	GTGAATGAGCGAGAGTGCTTT	NM_172058	NP_742055	72127864	Q99502	EYA1_HUMAN	0	Epithelial(68;0.0837)|all cancers(69;0.247)		14	1747	-	A	A	Breast(64;0.046)		Missense_Mutation	487		S -> P (in BOR1).				
EYA1	0	broad.mit.edu	GRCh37	8	72156896	72156896	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs145219836	by1000genomes	TCGA-12-0618-01	TCGA-12-0618-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340726.3:c.1082G>T	p.Arg361Leu	p.R361L	ENST00000340726	NM_000503.4	361	cGa/cTa	0			1			A	R/L	uc003xys.3	protein_coding	YES	CCDS34906.1			1082/1779								p.R361L(1)	ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	c.(1081-1083)CGA>CTA			TIGRFAM_domain:TIGR01658,hmmpanther:PTHR10190:SF11,hmmpanther:PTHR10190	eyes absent 1 isoform b				ENSP00000342626		18-Dec									COSM43007	18-Dec	.		ENST00000340726	Transcript	1		double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	ENSG00000104313	g.chr8:72156896C>A	3519			MODERATE		2.49	medium	getma.org/?cm=msa&ty=f&p=EYA1_HUMAN&rb=1&re=590&var=R361L	getma.org/pdb.php?prot=EYA1_HUMAN&from=1&to=590&var=R361L	getma.org/?cm=var&var=hg19,8,72156896,C,A&fts=all	R361L	--	--	1																																		EYA1_uc003xyr.3_Intron|EYA1_uc003xyt.3_Missense_Mutation_p.R328L|EYA1_uc010lzf.2_Missense_Mutation_p.R288L|EYA1_uc003xyu.2_Missense_Mutation_p.R361L|EYA1_uc011lfe.1_Missense_Mutation_p.R355L|EYA1_uc003xyv.2_Missense_Mutation_p.R239L	1	1		benign(0.257)	p.R361L	NM_172058	NP_742055		deleterious(0.04)	1	EYA1_HUMAN	EYA1	HGNC	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		Q4A4D0_HUMAN		11	1369	-	Breast(64;0.046)		UPI000012A3B3	361					SNV	EYA1,missense_variant,p.Arg361Leu,ENST00000340726,NM_000503.4,NM_001288574.1;EYA1,missense_variant,p.Arg355Leu,ENST00000303824,;EYA1,missense_variant,p.Arg361Leu,ENST00000388742,NM_172058.2,NM_172059.2;EYA1,missense_variant,p.Arg328Leu,ENST00000388740,NM_172060.2;EYA1,missense_variant,p.Arg327Leu,ENST00000388741,;EYA1,missense_variant,p.Arg360Leu,ENST00000388743,;EYA1,intron_variant,,ENST00000419131,;EYA1,3_prime_UTR_variant,,ENST00000465115,NM_001288575.1;EYA1,5_prime_UTR_variant,,ENST00000493349,;EYA1,non_coding_transcript_exon_variant,,ENST00000496494,;	uc003xys.3	c.1082G>T	1722/4326	1	1			c.1082G>T						8	SNP	c.(1081-1083)CGA>CTA	56	56		p.R361L(1)	ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Broad	eyes absent 1 isoform b			72156896		0.323	ENSG00000104313	5242	g.chr8:72156896C>A	double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity							70.472827	KEEP	19	9	0.321428571	17	11	19	9	0.321428571	70.516221	17	11	0.466667	1	0	0	0	0	1	0	0	0	--	--		0	A			EYA1_uc003xyr.3_Intron|EYA1_uc003xyt.3_Missense_Mutation_p.R328L|EYA1_uc010lzf.2_Missense_Mutation_p.R288L|EYA1_uc003xyu.2_Missense_Mutation_p.R361L|EYA1_uc011lfe.1_Missense_Mutation_p.R355L|EYA1_uc003xyv.2_Missense_Mutation_p.R239L	119	GBM-12-0618-TP	p.R361L	C	TTCTTCCATTCGCAGTCCAAG	NM_172058	NP_742055	72156896	Q99502	EYA1_HUMAN	0	Epithelial(68;0.0837)|all cancers(69;0.247)		11	1369	-	A	A	Breast(64;0.046)		Missense_Mutation	361						
EYA2	2139	broad.mit.edu	GRCh37	20	45811961	45811961	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0145-01	TCGA-06-0145-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327619.5:c.1458G>C	p.Arg486Ser	p.R486S	ENST00000327619	NM_005244.4	486	agG/agC	0			1			C	R/S	uc002xsm.2	protein_coding	YES	CCDS13403.1			1458/1617									ovary(1)	1	c.(1456-1458)AGG>AGC			hmmpanther:PTHR10190:SF7,hmmpanther:PTHR10190,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR01658,Superfamily_domains:SSF56784	eyes absent 2 isoform a				ENSP00000333640		15/16									COSM2149757	15/16	.		ENST00000327619	Transcript			DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	ENSG00000064655	g.chr20:45811961G>C	3520			MODERATE		2.895	medium	getma.org/?cm=msa&ty=f&p=EYA2_HUMAN&rb=1&re=536&var=R486S	getma.org/pdb.php?prot=EYA2_HUMAN&from=1&to=536&var=R486S	getma.org/?cm=var&var=hg19,20,45811961,G,C&fts=all	R486S	--	--	1																																		EYA2_uc010ghp.2_Missense_Mutation_p.R407S|EYA2_uc002xsn.2_Missense_Mutation_p.R491S|EYA2_uc002xso.2_Missense_Mutation_p.R486S|EYA2_uc002xsp.2_Missense_Mutation_p.R486S|EYA2_uc002xsq.2_Missense_Mutation_p.R456S	1	1		benign(0.328)	p.R486S	NM_005244	NP_005235		deleterious(0)	1	EYA2_HUMAN	EYA2	HGNC	O00167	EYA2_HUMAN			O60647_HUMAN		15	1832	+		Myeloproliferative disorder(115;0.0241)	UPI000012A3B4	486					SNV	EYA2,missense_variant,p.Arg486Ser,ENST00000327619,NM_005244.4;EYA2,missense_variant,p.Arg407Ser,ENST00000357410,NM_172110.3;EYA2,missense_variant,p.Arg456Ser,ENST00000317304,;EYA2,3_prime_UTR_variant,,ENST00000497062,;	uc002xsm.2	c.1458G>C	1832/2702	3	3			c.1458G>C						20	SNP	c.(1456-1458)AGG>AGC	3	3			ovary(1)	1	Broad	eyes absent 2 isoform a			45811961		0.343	ENSG00000064655	5243	g.chr20:45811961G>C	DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	Pancreas(120;56 1725 18501 25218 43520)			Pancreas(120;56 1725 18501 25218 43520)			96.195607	KEEP	20	15	-1	50	47	20	15	-1	102.148323	50	47	0.26087	1	0	0	0	0	1	0	0	0	--	--		0	C			EYA2_uc010ghp.2_Missense_Mutation_p.R407S|EYA2_uc002xsn.2_Missense_Mutation_p.R491S|EYA2_uc002xso.2_Missense_Mutation_p.R486S|EYA2_uc002xsp.2_Missense_Mutation_p.R486S|EYA2_uc002xsq.2_Missense_Mutation_p.R456S	23	GBM-06-0145-TP	p.R486S	G	GCTTCGAGAGGATAATGCAGA	NM_005244	NP_005235	45811961	O00167	EYA2_HUMAN	0			15	1832	+	C	C		Myeloproliferative disorder(115;0.0241)	Missense_Mutation	486						
EYA3	2140	broad.mit.edu	GRCh37	1	28362074	28362074	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0122-01	TCGA-06-0122-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373871.3:c.342G>A	p.Thr114=	p.T114=	ENST00000373871		114	acG/acA	0			1			T	T	uc001bpi.1	protein_coding	YES	CCDS316.1			342/1722									ovary(2)|skin(1)	3	c.(340-342)ACG>ACA			hmmpanther:PTHR10190,hmmpanther:PTHR10190:SF5	eyes absent 3				ENSP00000362978		18-Jun	1.65E-05					3.00E-05			rs773136502,COSM2149248,COSM3400655	18-Jun	.		ENST00000373871	Transcript			anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity	ENSG00000158161	g.chr1:28362074C>T	3521			LOW								--	--	1																																		EYA3_uc010ofs.1_Silent_p.T61T|EYA3_uc010oft.1_Silent_p.T114T|EYA3_uc001bpj.2_Silent_p.T114T|EYA3_uc001bpk.1_RNA|EYA3_uc010ofu.1_RNA	0,1,1	1			p.T114T	NM_001990	NP_001981			0,1,1	EYA3_HUMAN	EYA3	HGNC	Q99504	EYA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)	B4DNZ7_HUMAN		6	507	-		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	UPI000015FFE5	114					SNV	EYA3,synonymous_variant,p.=,ENST00000373871,;EYA3,synonymous_variant,p.=,ENST00000545175,NM_001282562.1;EYA3,synonymous_variant,p.=,ENST00000540618,NM_001282561.1;EYA3,synonymous_variant,p.=,ENST00000373863,NM_001282560.1;EYA3,5_prime_UTR_variant,,ENST00000436342,NM_001990.3;EYA3,intron_variant,,ENST00000373864,;RN7SL559P,upstream_gene_variant,,ENST00000476501,;EYA3,non_coding_transcript_exon_variant,,ENST00000471498,;EYA3,non_coding_transcript_exon_variant,,ENST00000468665,;	uc001bpi.1	c.342G>A	583/6085	2	2			c.342G>A						1	SNP	c.(340-342)ACG>ACA	26	26			ovary(2)|skin(1)	3	Broad	eyes absent 3			28362074		0.428	ENSG00000158161	5244	g.chr1:28362074C>T	anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity							183.087261	KEEP	49	23	-1	96	58	49	23	-1	187.709809	96	58	0.336735	1	0	0	0	0	0	0	1	0	--	--		0	T			EYA3_uc010ofs.1_Silent_p.T61T|EYA3_uc010oft.1_Silent_p.T114T|EYA3_uc001bpj.2_Silent_p.T114T|EYA3_uc001bpk.1_RNA|EYA3_uc010ofu.1_RNA	10	GBM-06-0122-TP	p.T114T	C	GTAGTCCATACGTTTGGGTTG	NM_001990	NP_001981	28362074	Q99504	EYA3_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)	6	507	-	T	T		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	Silent	114						
EYA4	0	broad.mit.edu	GRCh37	6	133844286	133844286	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-27-1831-01	TCGA-27-1831-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367895.5:c.1709T>C	p.Ile570Thr	p.I570T	ENST00000367895	NM_004100.4	570	aTt/aCt	0			1			C	I/T	uc003qec.3	protein_coding	YES	CCDS5165.1			1709/1920									large_intestine(2)	2	c.(1708-1710)ATT>ACT			Gene3D:3.40.50.1000,hmmpanther:PTHR10190,hmmpanther:PTHR10190:SF17,TIGRFAM_domain:TIGR01658	eyes absent 4 isoform a				ENSP00000356870		18/20									COSM3410597,COSM3410596	18/20	.		ENST00000367895	Transcript	1		anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	ENSG00000112319	g.chr6:133844286T>C	3522			MODERATE		2.625	medium	getma.org/?cm=msa&ty=f&p=EYA4_HUMAN&rb=28&re=637&var=I570T	getma.org/pdb.php?prot=EYA4_HUMAN&from=28&to=637&var=I570T	getma.org/?cm=var&var=hg19,6,133844286,T,C&fts=all	I570T	--	--	1																																		EYA4_uc011ecq.1_Missense_Mutation_p.I516T|EYA4_uc011ecr.1_Missense_Mutation_p.I522T|EYA4_uc003qed.3_Missense_Mutation_p.I570T|EYA4_uc003qee.3_Missense_Mutation_p.I547T|EYA4_uc011ecs.1_Missense_Mutation_p.I576T|uc003qeg.1_Intron	1,1	1		probably_damaging(0.988)	p.I570T	NM_004100	NP_004091		deleterious(0)	1,1	EYA4_HUMAN	EYA4	HGNC	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)			18	2167	+	Colorectal(23;0.221)		UPI000013D649	570					SNV	EYA4,missense_variant,p.Ile570Thr,ENST00000367895,NM_004100.4;EYA4,missense_variant,p.Ile570Thr,ENST00000355167,NM_172105.3;EYA4,missense_variant,p.Ile547Thr,ENST00000355286,NM_172103.3;EYA4,missense_variant,p.Ile547Thr,ENST00000525849,;EYA4,missense_variant,p.Ile576Thr,ENST00000531901,;EYA4,missense_variant,p.Ile516Thr,ENST00000452339,;EYA4,missense_variant,p.Ile522Thr,ENST00000430974,;EYA4,missense_variant,p.Ile570Thr,ENST00000431403,;RP3-323P13.2,intron_variant,,ENST00000607033,;	uc003qec.3	c.1709T>C	2173/5699	3	3			c.1709T>C						6	SNP	c.(1708-1710)ATT>ACT	16	16			large_intestine(2)	2	Broad	eyes absent 4 isoform a			133844286		0.383	ENSG00000112319	5245	g.chr6:133844286T>C	anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	Melanoma(57;398 1237 3528 4702 7415)			Melanoma(57;398 1237 3528 4702 7415)			-45.32229	KEEP	4	3	-1	110	130	4	3	-1	10.531553	110	130	0.022727	1	0	0	0	0	1	0	0	0	--	--		0	C			EYA4_uc011ecq.1_Missense_Mutation_p.I516T|EYA4_uc011ecr.1_Missense_Mutation_p.I522T|EYA4_uc003qed.3_Missense_Mutation_p.I570T|EYA4_uc003qee.3_Missense_Mutation_p.I547T|EYA4_uc011ecs.1_Missense_Mutation_p.I576T|uc003qeg.1_Intron	190	GBM-27-1831-TP	p.I570T	T	GCTTTCCCCATTGAGAATATT	NM_004100	NP_004091	133844286	O95677	EYA4_HUMAN	0		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	18	2167	+	C	C	Colorectal(23;0.221)		Missense_Mutation	570						
EZH2	0	broad.mit.edu	GRCh37	7	148506237	148506237	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-06-6391-01	TCGA-06-6391-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000460911.1:c.2106T>A	p.Val702=	p.V702=	ENST00000460911		702	gtT/gtA	0			1			T	V	uc003wfd.1	protein_coding		CCDS56516.1			2106/2241	Mis				DLBCL				haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183	c.(2104-2106)GTT>GTA			Gene3D:2.170.270.10,Pfam_domain:PF00856,PROSITE_profiles:PS50280,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF287,SMART_domains:SM00317,Superfamily_domains:SSF82199	enhancer of zeste 2 isoform a				ENSP00000419711		19/20										19/20	.		ENST00000460911	Transcript	1		negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	ENSG00000106462	g.chr7:148506237A>T	3527			LOW								--	--	1																																		EZH2_uc011kug.1_Silent_p.V651V|EZH2_uc003wfb.1_Silent_p.V707V|EZH2_uc003wfc.1_Silent_p.V663V|EZH2_uc011kuh.1_Silent_p.V693V					p.V702V	NM_004456	NP_004447				EZH2_HUMAN	EZH2	HGNC	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		Q75MP9_HUMAN,Q6R125_HUMAN		19	2272	-	Melanoma(164;0.15)		UPI000002E1D6	702			SET.		SNV	EZH2,synonymous_variant,p.=,ENST00000320356,NM_004456.4,NM_001203248.1,NM_001203247.1;EZH2,synonymous_variant,p.=,ENST00000460911,;EZH2,synonymous_variant,p.=,ENST00000476773,NM_001203249.1;EZH2,synonymous_variant,p.=,ENST00000478654,;EZH2,synonymous_variant,p.=,ENST00000350995,NM_152998.2;EZH2,synonymous_variant,p.=,ENST00000541220,;EZH2,synonymous_variant,p.=,ENST00000483967,;EZH2,3_prime_UTR_variant,,ENST00000492143,;EZH2,downstream_gene_variant,,ENST00000469631,;	uc003wfd.1	c.2106T>A	2195/2591	1	1			c.2106T>A	Mis				DLBCL	7	SNP	c.(2104-2106)GTT>GTA	9	9			haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183	Broad	enhancer of zeste 2 isoform a			148506237		0.443	ENSG00000106462	5247	g.chr7:148506237A>T	negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding							23.682135	KEEP	13	7	-1	75	90	13	7	-1	46.400555	75	90	0.122699	1	0	0	0	0	0	0	1	0	--	--		0	T			EZH2_uc011kug.1_Silent_p.V651V|EZH2_uc003wfb.1_Silent_p.V707V|EZH2_uc003wfc.1_Silent_p.V663V|EZH2_uc011kuh.1_Silent_p.V693V	107	GBM-06-6391-TP	p.V702V	A	GATCACCGTTAACCATCATAA	NM_004456	NP_004447	148506237	Q15910	EZH2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		19	2272	-	T	T	Melanoma(164;0.15)		Silent	702			SET.			
EZH2	0	broad.mit.edu	GRCh37	7	148515006	148515009	+	frameshift_variant	Frame_Shift_Del	DEL	TTCT	TTCT	-			TCGA-12-0618-01	TCGA-12-0618-01	TTCT	TTCT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000460911.1:c.1185_1188delAGAA	p.Glu396LysfsTer22	p.E396Kfs*22	ENST00000460911		395	aaAGAA/aa	0			1			-	KE/X	uc003wfd.1	protein_coding		CCDS56516.1			1185-1188/2241	Mis				DLBCL			p.E401fs*22(1)	haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183	c.(1183-1188)AAAGAAfs			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF287,Low_complexity_(Seg):seg	enhancer of zeste 2 isoform a				ENSP00000419711		20-Oct									COSM53006	20-Oct	.		ENST00000460911	Transcript	1		negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	ENSG00000106462	g.chr7:148515006_148515009delTTCT	3527			HIGH								--	--	1																																		EZH2_uc011kug.1_Frame_Shift_Del_p.K386fs|EZH2_uc003wfb.1_Frame_Shift_Del_p.K400fs|EZH2_uc003wfc.1_Frame_Shift_Del_p.K356fs|EZH2_uc011kuh.1_Frame_Shift_Del_p.K386fs|EZH2_uc011kui.1_Frame_Shift_Del_p.K395fs|EZH2_uc011kuj.1_RNA	1				p.K395fs	NM_004456	NP_004447			1	EZH2_HUMAN	EZH2	HGNC	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		Q75MP9_HUMAN,Q6R125_HUMAN		10	1351_1354	-	Melanoma(164;0.15)		UPI000002E1D6	395_396					deletion	EZH2,frameshift_variant,p.Glu401LysfsTer22,ENST00000320356,NM_004456.4,NM_001203248.1,NM_001203247.1;EZH2,frameshift_variant,p.Glu396LysfsTer22,ENST00000460911,;EZH2,frameshift_variant,p.Glu387LysfsTer22,ENST00000476773,NM_001203249.1;EZH2,frameshift_variant,p.Glu387LysfsTer22,ENST00000478654,;EZH2,frameshift_variant,p.Glu357LysfsTer22,ENST00000350995,NM_152998.2;EZH2,frameshift_variant,p.Glu387LysfsTer22,ENST00000541220,;EZH2,frameshift_variant,p.Glu387LysfsTer22,ENST00000483967,;EZH2,downstream_gene_variant,,ENST00000536783,;RNU7-20P,upstream_gene_variant,,ENST00000515903,;EZH2,3_prime_UTR_variant,,ENST00000492143,;EZH2,non_coding_transcript_exon_variant,,ENST00000498186,;EZH2,downstream_gene_variant,,ENST00000483012,;	uc003wfd.1	c.1185_1188delAGAA	1274-1277/2591	5	5			c.1185_1188delAGAA	Mis				DLBCL	7	DEL	c.(1183-1188)AAAGAAfs	2	2		p.E401fs*22(1)	haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183	Broad	enhancer of zeste 2 isoform a			148515009		0.456	ENSG00000106462	5247	g.chr7:148515006_148515009delTTCT	negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding																				0.31	1	1	0	1	0	0	0	0	0	--	--		0	-			EZH2_uc011kug.1_Frame_Shift_Del_p.K386fs|EZH2_uc003wfb.1_Frame_Shift_Del_p.K400fs|EZH2_uc003wfc.1_Frame_Shift_Del_p.K356fs|EZH2_uc011kuh.1_Frame_Shift_Del_p.K386fs|EZH2_uc011kui.1_Frame_Shift_Del_p.K395fs|EZH2_uc011kuj.1_RNA	119	GBM-12-0618-TP	p.K395fs	TTCT	TCTCTTCTTCTTCTTTATCATTGT	NM_004456	NP_004447	148515006	Q15910	EZH2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		10	1351_1354	-	-	-	Melanoma(164;0.15)		Frame_Shift_Del	395_396						
EZH2	0	broad.mit.edu	GRCh37	7	148512600	148512600	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C			TCGA-14-1395-01	TCGA-14-1395-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000460911.1:c.1529A>G	p.Lys510Arg	p.K510R	ENST00000460911		510	aAg/aGg	0			1			C	K/R	uc003wfd.1	protein_coding		CCDS56516.1			1529/2241	Mis				DLBCL				haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183	c.(1528-1530)AAG>AGG			Gene3D:2.170.270.10,PROSITE_profiles:PS51633,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF287	enhancer of zeste 2 isoform a				ENSP00000419711		13/20									COSM3411768,COSM3411769	13/20	.		ENST00000460911	Transcript	1		negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	ENSG00000106462	g.chr7:148512600T>C	3527			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=EZH2_HUMAN&rb=503&re=605&var=K510R	NA	getma.org/?cm=var&var=hg19,7,148512600,T,C&fts=all	K510R	--	--	1																																		EZH2_uc011kug.1_Missense_Mutation_p.K501R|EZH2_uc003wfb.1_Missense_Mutation_p.K515R|EZH2_uc003wfc.1_Missense_Mutation_p.K471R|EZH2_uc011kuh.1_Missense_Mutation_p.K501R	1,1			benign(0.188)	p.K510R	NM_004456	NP_004447		tolerated(0.11)	1,1	EZH2_HUMAN	EZH2	HGNC	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		Q75MP9_HUMAN,Q6R125_HUMAN		13	1695	-	Melanoma(164;0.15)		UPI000002E1D6	510					SNV	EZH2,missense_variant,p.Lys515Arg,ENST00000320356,NM_004456.4,NM_001203248.1,NM_001203247.1;EZH2,missense_variant,p.Lys510Arg,ENST00000460911,;EZH2,missense_variant,p.Lys501Arg,ENST00000476773,NM_001203249.1;EZH2,missense_variant,p.Lys501Arg,ENST00000478654,;EZH2,missense_variant,p.Lys471Arg,ENST00000350995,NM_152998.2;EZH2,missense_variant,p.Lys501Arg,ENST00000541220,;EZH2,missense_variant,p.Lys501Arg,ENST00000483967,;EZH2,downstream_gene_variant,,ENST00000536783,;EZH2,splice_region_variant,,ENST00000492143,;EZH2,downstream_gene_variant,,ENST00000498186,;EZH2,downstream_gene_variant,,ENST00000483012,;EZH2,upstream_gene_variant,,ENST00000469631,;	uc003wfd.1	c.1529A>G	1618/2591	4	4			c.1529A>G	Mis				DLBCL	7	SNP	c.(1528-1530)AAG>AGG	33	33			haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183	Broad	enhancer of zeste 2 isoform a			148512600		0.368	ENSG00000106462	5247	g.chr7:148512600T>C	negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding							-48.769016	KEEP	1	2	-1	114	124	1	2	-1	6.431303	114	124	0.014563	1	0	0	0	0	1	0	0	0	--	--		0	C			EZH2_uc011kug.1_Missense_Mutation_p.K501R|EZH2_uc003wfb.1_Missense_Mutation_p.K515R|EZH2_uc003wfc.1_Missense_Mutation_p.K471R|EZH2_uc011kuh.1_Missense_Mutation_p.K501R	144	GBM-14-1395-TP	p.K510R	T	ATGCTAACCCTTTTTCAGCTG	NM_004456	NP_004447	148512600	Q15910	EZH2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		13	1695	-	C	C	Melanoma(164;0.15)		Missense_Mutation	510						
EZH2	2146		GRCh37	7	148529726	148529726	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000320356.2:c.363G>C	p.Met121Ile	p.M121I	ENST00000320356	NM_004456.4	121	atG/atC	0																																																																																																																																																																																																																																												
EZR	7430	broad.mit.edu	GRCh37	6	159206603	159206603	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0122-01	TCGA-06-0122-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367075.3:c.205G>T	p.Glu69Ter	p.E69*	ENST00000367075	NM_001111077.1	69	Gag/Tag	0			1			A	E/*	uc003qrt.3	protein_coding		CCDS5258.1			205/1761									ovary(1)	1	c.(205-207)GAG>TAG			Gene3D:3.10.20.90,Pfam_domain:PF09379,PIRSF_domain:PIRSF002305,Prints_domain:PR00661,PROSITE_patterns:PS00660,PROSITE_profiles:PS50057,hmmpanther:PTHR23281,hmmpanther:PTHR23281:SF19,SMART_domains:SM00295,Superfamily_domains:SSF54236	ezrin				ENSP00000338934		13-Apr									COSM2149172	13-Apr	.		ENST00000337147	Transcript			actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding	ENSG00000092820	g.chr6:159206603C>A	12691			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,6,159206603,C,A&fts=all	E69*	--	--	1																																		EZR_uc011efs.1_Nonsense_Mutation_p.E37*|EZR_uc003qru.3_Nonsense_Mutation_p.E69*	1				p.E69*	NM_003379	NP_003370			1	EZRI_HUMAN	EZR	HGNC	P15311	EZRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)	B7Z9R6_HUMAN		4	420	-		Breast(66;0.000776)|Ovarian(120;0.0303)	UPI0000167BA1	69			FERM.		SNV	EZR,stop_gained,p.Glu69Ter,ENST00000367075,NM_001111077.1;EZR,stop_gained,p.Glu69Ter,ENST00000337147,NM_003379.4;EZR,stop_gained,p.Glu37Ter,ENST00000392177,;EZR,non_coding_transcript_exon_variant,,ENST00000476189,;	uc003qrt.3	c.205G>T	339/3068	5	2			c.205G>T						6	SNP	c.(205-207)GAG>TAG	33	33			ovary(1)	1	Broad	ezrin			159206603		0.537	ENSG00000092820	5248	g.chr6:159206603C>A	actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding							42.317135	KEEP	5	10	0.666666667	17	7	5	10	0.666666667	42.685519	17	7	0.394737	1	0	0	0	0	0	1	0	0	--	--		0	A			EZR_uc011efs.1_Nonsense_Mutation_p.E37*|EZR_uc003qru.3_Nonsense_Mutation_p.E69*	10	GBM-06-0122-TP	p.E69*	C	TTCCTGACCTCCTGGGCAGAC	NM_003379	NP_003370	159206603	P15311	EZRI_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)	4	420	-	A	A		Breast(66;0.000776)|Ovarian(120;0.0303)	Nonsense_Mutation	69			FERM.			
EZR	0	broad.mit.edu	GRCh37	6	159210403	159210403	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-2625-01	TCGA-19-2625-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337147.7:c.13A>G	p.Ile5Val	p.I5V	ENST00000337147	NM_003379.4	5	Atc/Gtc	0			1			C	I/V	uc003qrt.3	protein_coding		CCDS5258.1			13/1761									ovary(1)	1	c.(13-15)ATC>GTC			PIRSF_domain:PIRSF002305,PROSITE_profiles:PS50057,hmmpanther:PTHR23281,hmmpanther:PTHR23281:SF19,SMART_domains:SM00295,Superfamily_domains:SSF54236	ezrin				ENSP00000338934		13-Feb									COSM3410743	13-Feb	.		ENST00000337147	Transcript			actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding	ENSG00000092820	g.chr6:159210403T>C	12691			MODERATE		0.745	neutral	getma.org/?cm=msa&ty=f&p=EZRI_HUMAN&rb=2&re=295&var=I5V	getma.org/pdb.php?prot=EZRI_HUMAN&from=2&to=295&var=I5V	getma.org/?cm=var&var=hg19,6,159210403,T,C&fts=all	I5V	--	--	1																																		EZR_uc011efs.1_Missense_Mutation_p.I5V|EZR_uc003qru.3_Missense_Mutation_p.I5V	1			benign(0.001)	p.I5V	NM_003379	NP_003370		tolerated(0.57)	1	EZRI_HUMAN	EZR	HGNC	P15311	EZRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)	B7Z9R6_HUMAN		2	228	-		Breast(66;0.000776)|Ovarian(120;0.0303)	UPI0000167BA1	5			FERM.		SNV	EZR,missense_variant,p.Ile5Val,ENST00000367075,NM_001111077.1;EZR,missense_variant,p.Ile5Val,ENST00000337147,NM_003379.4;EZR,missense_variant,p.Ile5Val,ENST00000392177,;EZR,splice_region_variant,,ENST00000476189,;	uc003qrt.3	c.13A>G	147/3068	4	4			c.13A>G						6	SNP	c.(13-15)ATC>GTC	43	43			ovary(1)	1	Broad	ezrin			159210403		0.428	ENSG00000092820	5248	g.chr6:159210403T>C	actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding							66.279285	KEEP	16	8	-1	35	39	16	8	-1	71.860921	35	39	0.244681	1	0	0	0	0	1	0	0	0	--	--		0	C			EZR_uc011efs.1_Missense_Mutation_p.I5V|EZR_uc003qru.3_Missense_Mutation_p.I5V	165	GBM-19-2625-TP	p.I5V	T	CGGACATTGATCTGAAAAACA	NM_003379	NP_003370	159210403	P15311	EZRI_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)	2	228	-	C	C		Breast(66;0.000776)|Ovarian(120;0.0303)	Missense_Mutation	5			FERM.			
EZR	0	broad.mit.edu	GRCh37	6	159192358	159192358	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01	TCGA-27-2519-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337147.7:c.877C>T	p.Arg293Cys	p.R293C	ENST00000337147	NM_003379.4	293	Cgc/Tgc	0			1			A	R/C	uc003qrt.3	protein_coding		CCDS5258.1			877/1761									ovary(1)	1	c.(877-879)CGC>TGC			Gene3D:2.30.29.30,Pfam_domain:PF09380,PIRSF_domain:PIRSF002305,Prints_domain:PR00661,PROSITE_profiles:PS50057,hmmpanther:PTHR23281,hmmpanther:PTHR23281:SF19,Superfamily_domains:SSF50729	ezrin				ENSP00000338934		13-Aug	4.94E-05					9.00E-05			rs749396044,COSM1075460	13-Aug	.		ENST00000337147	Transcript			actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding	ENSG00000092820	g.chr6:159192358G>A	12691			MODERATE		3.235	medium	getma.org/?cm=msa&ty=f&p=EZRI_HUMAN&rb=210&re=299&var=R293C	getma.org/pdb.php?prot=EZRI_HUMAN&from=210&to=299&var=R293C	getma.org/?cm=var&var=hg19,6,159192358,G,A&fts=all	R293C	--	--	1																																		EZR_uc011efr.1_5'Flank|EZR_uc011efs.1_Missense_Mutation_p.R261C|EZR_uc003qru.3_Missense_Mutation_p.R293C	0,1			possibly_damaging(0.589)	p.R293C	NM_003379	NP_003370		deleterious(0)	0,1	EZRI_HUMAN	EZR	HGNC	P15311	EZRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)	B7Z9R6_HUMAN		8	1092	-		Breast(66;0.000776)|Ovarian(120;0.0303)	UPI0000167BA1	293			Interaction with SCYL3.|FERM.		SNV	EZR,missense_variant,p.Arg293Cys,ENST00000367075,NM_001111077.1;EZR,missense_variant,p.Arg293Cys,ENST00000337147,NM_003379.4;EZR,missense_variant,p.Arg261Cys,ENST00000392177,;	uc003qrt.3	c.877C>T	1011/3068	1	1			c.877C>T						6	SNP	c.(877-879)CGC>TGC	54	54			ovary(1)	1	Broad	ezrin			159192358		0.572	ENSG00000092820	5248	g.chr6:159192358G>A	actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding							-24.788459	KEEP	2	2	-1	68	72	2	2	-1	6.56765	68	72	0.030769	1	0	0	0	0	1	0	0	0	--	--		0	A			EZR_uc011efr.1_5'Flank|EZR_uc011efs.1_Missense_Mutation_p.R261C|EZR_uc003qru.3_Missense_Mutation_p.R293C	199	GBM-27-2519-TP	p.R293C	G	TTCCTGCGGCGCATATACAAC	NM_003379	NP_003370	159192358	P15311	EZRI_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)	8	1092	-	A	A		Breast(66;0.000776)|Ovarian(120;0.0303)	Missense_Mutation	293			Interaction with SCYL3.|FERM.			
F10	0	broad.mit.edu	GRCh37	13	113793675	113793675	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-1832-01	TCGA-27-1832-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375559.3:c.261C>T	p.Gly87=	p.G87=	ENST00000375559	NM_000504.3	87	ggC/ggT	0			1			T	G	uc001vsx.2	protein_coding	YES	CCDS9530.1			261/1467									pancreas(1)	1	c.(259-261)GGC>GGT			Gene3D:2.10.25.10,PIRSF_domain:PIRSF001143,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF40,SMART_domains:SM00179,Superfamily_domains:SSF57630	coagulation factor X preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)			ENSP00000364709		8-Apr	4.12E-05					7.55E-05			rs763365831,COSM3399246	8-Apr	.		ENST00000375559	Transcript	1		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	ENSG00000126218	g.chr13:113793675C>T	3528			LOW								--	--	1																																		F10_uc010agq.1_RNA|F10_uc001vsy.2_Silent_p.G87G|F10_uc001vsz.2_Silent_p.G87G	0,1	1			p.G87G	NM_000504	NP_000495			0,1	FA10_HUMAN	F10	HGNC	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		Q5JVE7_HUMAN		4	318	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	UPI000000DB39	87			EGF-like 1; calcium-binding (Potential).		SNV	F10,synonymous_variant,p.=,ENST00000375559,NM_000504.3;F10,synonymous_variant,p.=,ENST00000375551,;F10,synonymous_variant,p.=,ENST00000409306,;F10,synonymous_variant,p.=,ENST00000410083,;F10,non_coding_transcript_exon_variant,,ENST00000477269,;F10,upstream_gene_variant,,ENST00000498455,;	uc001vsx.2	c.261C>T	299/1517	2	2			c.261C>T						13	SNP	c.(259-261)GGC>GGT	25	25			pancreas(1)	1	Broad	coagulation factor X preproprotein		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	113793675		0.502	ENSG00000126218	5249	g.chr13:113793675C>T	blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity							27.599756	KEEP	5	9	-1	28	40	5	9	-1	35.355592	28	40	0.177215	1	0	0	0	0	0	0	1	0	--	--		0	T			F10_uc010agq.1_RNA|F10_uc001vsy.2_Silent_p.G87G|F10_uc001vsz.2_Silent_p.G87G	191	GBM-27-1832-TP	p.G87G	C	TTGCAGATGGCGACCAGTGTG	NM_000504	NP_000495	113793675	P00742	FA10_HUMAN	0	all cancers(43;0.0805)|Epithelial(84;0.231)		4	318	+	T	T	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	Silent	87			EGF-like 1; calcium-binding (Potential).			
F10	0	broad.mit.edu	GRCh37	13	113803697	113803697	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1980-01	TCGA-32-1980-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375559.3:c.1333C>T	p.Arg445Cys	p.R445C	ENST00000375559	NM_000504.3	445	Cgt/Tgt	0			1			T	R/C	uc001vsx.2	protein_coding	YES	CCDS9530.1			1333/1467									pancreas(1)	1	c.(1333-1335)CGT>TGT			Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF001143,PROSITE_profiles:PS50240,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF40,SMART_domains:SM00020,Superfamily_domains:SSF50494	coagulation factor X preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)			ENSP00000364709		8-Aug	3.29E-05		0.00026			1.52E-05			rs765479486,COSM3399247	8-Aug	.		ENST00000375559	Transcript	1		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	ENSG00000126218	g.chr13:113803697C>T	3528			MODERATE		2.195	medium	getma.org/?cm=msa&ty=f&p=FA10_HUMAN&rb=235&re=462&var=R445C	getma.org/pdb.php?prot=FA10_HUMAN&from=235&to=462&var=R445C	getma.org/?cm=var&var=hg19,13,113803697,C,T&fts=all	R445C	--	--	1																																		F10_uc001vsy.2_3'UTR|F10_uc001vsz.2_3'UTR	0,1	1		probably_damaging(0.972)	p.R445C	NM_000504	NP_000495		deleterious(0)	0,1	FA10_HUMAN	F10	HGNC	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		Q5JVE7_HUMAN		8	1390	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	UPI000000DB39	445			Peptidase S1.		SNV	F10,missense_variant,p.Arg445Cys,ENST00000375559,NM_000504.3;F10,3_prime_UTR_variant,,ENST00000375551,;F10,3_prime_UTR_variant,,ENST00000409306,;F10,downstream_gene_variant,,ENST00000410083,;F10,downstream_gene_variant,,ENST00000498455,;	uc001vsx.2	c.1333C>T	1371/1517	2	2			c.1333C>T						13	SNP	c.(1333-1335)CGT>TGT	47	47			pancreas(1)	1	Broad	coagulation factor X preproprotein		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	113803697		0.627	ENSG00000126218	5249	g.chr13:113803697C>T	blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity							15.198006	KEEP	2	12	-1	46	58	2	12	-1	31.201112	46	58	0.117117	1	0	0	0	0	1	0	0	0	--	--		0	T			F10_uc001vsy.2_3'UTR|F10_uc001vsz.2_3'UTR	231	GBM-32-1980-TP	p.R445C	C	GGGCTGTGCCCGTAAGGGGAA	NM_000504	NP_000495	113803697	P00742	FA10_HUMAN	0	all cancers(43;0.0805)|Epithelial(84;0.231)		8	1390	+	T	T	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	Missense_Mutation	445			Peptidase S1.			
F11R	0	broad.mit.edu	GRCh37	1	160970003	160970003	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs144844671	by1000genomes	TCGA-19-2624-01	TCGA-19-2624-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368026.6:c.524C>T	p.Thr175Met	p.T175M	ENST00000368026	NM_016946.4	175	aCg/aTg	0	T:0.0005	A:0	1	A:0		A	T/M	uc009wtt.2	protein_coding	YES	CCDS1213.1			524/900									ovary(2)	2	c.(523-525)ACG>ATG			Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF4,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	F11 receptor precursor		A:0.001	T:0	ENSP00000357005	A:0	10-May	1.65E-05			0.000116		1.50E-05			rs144844671,COSM2156257	10-May	.		ENST00000368026	Transcript		A:0.0002	blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction		ENSG00000158769	g.chr1:160970003G>A	14685			MODERATE		0.825	low	getma.org/?cm=msa&ty=f&p=JAM1_HUMAN&rb=126&re=229&var=T175M	getma.org/pdb.php?prot=JAM1_HUMAN&from=126&to=229&var=T175M	getma.org/?cm=var&var=hg19,1,160970003,G,A&fts=all	T175M	--	--	1																																		F11R_uc010pjv.1_Missense_Mutation_p.T126M|F11R_uc001fxe.3_Missense_Mutation_p.T175M|F11R_uc009wtu.2_Missense_Mutation_p.T175M|F11R_uc010pjw.1_Missense_Mutation_p.T179M|F11R_uc001fxf.3_Missense_Mutation_p.T175M	0,1	1		benign(0.034)	p.T175M	NM_016946	NP_058642	A:0	tolerated(0.12)	0,1	JAM1_HUMAN	F11R	HGNC	Q9Y624	JAM1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00207)		Q6FIB4_HUMAN		5	794	-	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		UPI0000000DC1	175			Ig-like V-type 2.|Extracellular (Potential).		SNV	F11R,missense_variant,p.Thr175Met,ENST00000368026,NM_016946.4;F11R,missense_variant,p.Thr126Met,ENST00000537746,;F11R,non_coding_transcript_exon_variant,,ENST00000472573,;F11R,downstream_gene_variant,,ENST00000335772,;RP11-544M22.13,3_prime_UTR_variant,,ENST00000289779,;RP11-544M22.13,3_prime_UTR_variant,,ENST00000470694,;F11R,downstream_gene_variant,,ENST00000602966,;	uc009wtt.2	c.524C>T	799/4835	2	2			c.524C>T						1	SNP	c.(523-525)ACG>ATG	20	20			ovary(2)	2	Broad	F11 receptor precursor			160970003		0.517	ENSG00000158769	5251	g.chr1:160970003G>A	blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction								220.447729	KEEP	43	38	-1	46	35	43	38	-1	220.447729	46	35	0.5	1	0	0	0	0	1	0	0	0	--	--		0	A			F11R_uc010pjv.1_Missense_Mutation_p.T126M|F11R_uc001fxe.3_Missense_Mutation_p.T175M|F11R_uc009wtu.2_Missense_Mutation_p.T175M|F11R_uc010pjw.1_Missense_Mutation_p.T179M|F11R_uc001fxf.3_Missense_Mutation_p.T175M	164	GBM-19-2624-TP	p.T175M	G	TTTGGGATTCGTAGGCATCAC	NM_016946	NP_058642	160970003	Q9Y624	JAM1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.00207)		5	794	-	A	A	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		Missense_Mutation	175			Ig-like V-type 2.|Extracellular (Potential).			
F13A1	0	broad.mit.edu	GRCh37	6	6267040	6267040	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264870.3:c.322C>T	p.Arg108Cys	p.R108C	ENST00000264870	NM_000129.3	108	Cgc/Tgc	0			1			A	R/C	uc003mwv.2	protein_coding	YES	CCDS4496.1			322/2199									ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	c.(322-324)CGC>TGC			Gene3D:2.60.40.10,Pfam_domain:PF00868,PIRSF_domain:PIRSF000459,hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF42,Superfamily_domains:SSF81296	coagulation factor XIII A1 subunit precursor	L-Glutamine(DB00130)			ENSP00000264870		15-Apr	8.24E-06		8.65E-05						rs751922706,COSM2155235	15-Apr	.		ENST00000264870	Transcript	1		peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	ENSG00000124491	g.chr6:6267040G>A	3531			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=F13A_HUMAN&rb=46&re=167&var=R108C	getma.org/pdb.php?prot=F13A_HUMAN&from=46&to=167&var=R108C	getma.org/?cm=var&var=hg19,6,6267040,G,A&fts=all	R108C	--	--	1																																		F13A1_uc011dib.1_Missense_Mutation_p.R45C	0,1	1		possibly_damaging(0.892)	p.R108C	NM_000129	NP_000120		tolerated(0.07)	0,1	F13A_HUMAN	F13A1	HGNC	P00488	F13A_HUMAN			Q9NQP5_HUMAN		4	445	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	UPI000013D585	108					SNV	F13A1,missense_variant,p.Arg108Cys,ENST00000264870,NM_000129.3;F13A1,missense_variant,p.Arg162Cys,ENST00000431222,;F13A1,missense_variant,p.Arg108Cys,ENST00000414279,;F13A1,splice_region_variant,,ENST00000479211,;	uc003mwv.2	c.322C>T	588/3999	2	2			c.322C>T						6	SNP	c.(322-324)CGC>TGC	46	46			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Broad	coagulation factor XIII A1 subunit precursor		L-Glutamine(DB00130)	6267040		0.448	ENSG00000124491	5253	g.chr6:6267040G>A	peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity							177.304694	KEEP	34	41	-1	91	98	34	41	-1	187.265321	91	98	0.284519	1	0	0	0	0	1	0	0	0	--	--		0	A			F13A1_uc011dib.1_Missense_Mutation_p.R45C	142	GBM-14-1034-TP	p.R108C	G	TGTGGGTAGCGACCTATGAGA	NM_000129	NP_000120	6267040	P00488	F13A_HUMAN	0			4	445	-	A	A	Ovarian(93;0.0816)	all_hematologic(90;0.152)	Missense_Mutation	108						
F13A1	0	broad.mit.edu	GRCh37	6	6225003	6225003	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264870.3:c.889G>A	p.Val297Ile	p.V297I	ENST00000264870	NM_000129.3	297	Gtt/Att	0		T:0	1	T:0		T	V/I	uc003mwv.2	protein_coding	YES	CCDS4496.1			889/2199									ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	c.(889-891)GTT>ATT			Gene3D:1ex0A02,PIRSF_domain:PIRSF000459,hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF42,Superfamily_domains:SSF54001	coagulation factor XIII A1 subunit precursor	L-Glutamine(DB00130)	T:0.001		ENSP00000264870	T:0	15-Jul	8.24E-05		0.000173	0.000809				6.06E-05	rs199564311,COSM3411233	15-Jul	common_variant		ENST00000264870	Transcript	1	T:0.0002	peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	ENSG00000124491	g.chr6:6225003C>T	3531			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=F13A_HUMAN&rb=282&re=398&var=V297I	getma.org/pdb.php?prot=F13A_HUMAN&from=282&to=398&var=V297I	getma.org/?cm=var&var=hg19,6,6225003,C,T&fts=all	V297I	--	--	1																																		F13A1_uc011dib.1_Missense_Mutation_p.V234I	0,1	1		benign(0.026)	p.V297I	NM_000129	NP_000120	T:0	tolerated(0.08)	0,1	F13A_HUMAN	F13A1	HGNC	P00488	F13A_HUMAN			Q9NQP5_HUMAN		7	1012	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	UPI000013D585	297					SNV	F13A1,missense_variant,p.Val297Ile,ENST00000264870,NM_000129.3;F13A1,missense_variant,p.Val14Ile,ENST00000445223,;	uc003mwv.2	c.889G>A	1155/3999	1	1			c.889G>A						6	SNP	c.(889-891)GTT>ATT	3	3			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Broad	coagulation factor XIII A1 subunit precursor		L-Glutamine(DB00130)	6225003		0.488	ENSG00000124491	5253	g.chr6:6225003C>T	peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity							49.558196	KEEP	11	23	-1	63	101	11	23	-1	67.033712	63	101	0.170588	1	0	0	0	0	1	0	0	0	--	--		0	T			F13A1_uc011dib.1_Missense_Mutation_p.V234I	246	GBM-32-4211-TP	p.V297I	C	AGAATGTCAACGCTTCCAGTC	NM_000129	NP_000120	6225003	P00488	F13A_HUMAN	0			7	1012	-	T	T	Ovarian(93;0.0816)	all_hematologic(90;0.152)	Missense_Mutation	297						
F13A1	2162		GRCh37	6	6145963	6145963	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000264870.3:c.2088C>T	p.Cys696=	p.C696=	ENST00000264870	NM_000129.3	696	tgC/tgT	0																																																																																																																																																																																																																																												
F13A1	2162		GRCh37	6	6174842	6174842	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000264870.3:c.1718C>T	p.Thr573Met	p.T573M	ENST00000264870	NM_000129.3	573	aCg/aTg	0																																																																																																																																																																																																																																												
F2	0	broad.mit.edu	GRCh37	11	46750326	46750326	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-5954-01	TCGA-19-5954-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311907.5:c.1411C>G	p.Pro471Ala	p.P471A	ENST00000311907	NM_000506.3	471	Cct/Gct	0	G:0.0002		1			G	P/A	uc001ndf.3	protein_coding	YES	CCDS31476.1			1411/1869								p.P471S(1)	ovary(3)	3	c.(1411-1413)CCT>GCT			PROSITE_profiles:PS50240,hmmpanther:PTHR24254,hmmpanther:PTHR24254:SF8,Pfam_domain:PF00089,Gene3D:2.40.10.10,PIRSF_domain:PIRSF001149,SMART_domains:SM00020,Superfamily_domains:SSF50494,Prints_domain:PR00722	coagulation factor II preproprotein	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)		G:0	ENSP00000308541		14-Nov	4.12E-05	0.000192		0.000116		3.00E-05			rs377462682,COSM2156752	14-Nov	.		ENST00000311907	Transcript	1		activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	ENSG00000180210	g.chr11:46750326C>G	3535			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=THRB_HUMAN&rb=364&re=613&var=P471A	getma.org/pdb.php?prot=THRB_HUMAN&from=364&to=613&var=P471A	getma.org/?cm=var&var=hg19,11,46750326,C,G&fts=all	P471A	--	--	1																																		F2_uc001ndg.3_RNA	0,1	1		probably_damaging(0.984)	p.P471A	NM_000506	NP_000497		deleterious(0.01)	0,1	THRB_HUMAN	F2	HGNC	P00734	THRB_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.146)	Q8TD58_HUMAN,Q86WA1_HUMAN		11	1454	+		all_lung(304;0.000414)|Lung NSC(402;0.0011)	UPI0000136ECD	471			Peptidase S1.		SNV	F2,missense_variant,p.Pro471Ala,ENST00000311907,NM_000506.3;F2,intron_variant,,ENST00000530231,;F2,downstream_gene_variant,,ENST00000442468,;F2,downstream_gene_variant,,ENST00000490274,;	uc001ndf.3	c.1411C>G	1467/2023	3	3			c.1411C>G						11	SNP	c.(1411-1413)CCT>GCT	53	53		p.P471S(1)	ovary(3)	3	Broad	coagulation factor II preproprotein		Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	46750326		0.493	ENSG00000180210	5255	g.chr11:46750326C>G	activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	Esophageal Squamous(147;1147 1808 2148 38609 51144)			Esophageal Squamous(147;1147 1808 2148 38609 51144)			145.604429	KEEP	28	19	-1	37	37	28	19	-1	146.696471	37	37	0.396552	1	0	0	0	0	1	0	0	0	--	--		0	G			F2_uc001ndg.3_RNA	174	GBM-19-5954-TP	p.P471A	C	GCTGAAGAAGCCTGTTGCCTT	NM_000506	NP_000497	46750326	P00734	THRB_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.146)	11	1454	+	G	G		all_lung(304;0.000414)|Lung NSC(402;0.0011)	Missense_Mutation	471			Peptidase S1.			
F2	2147		GRCh37	11	46760649	46760649	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000311907.5:c.1706G>A	p.Gly569Glu	p.G569E	ENST00000311907	NM_000506.3	569	gGg/gAg	0																																																																																																																																																																																																																																												
F2RL3	0	broad.mit.edu	GRCh37	19	17000950	17000950	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01	TCGA-32-1970-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000248076.3:c.676G>A	p.Val226Met	p.V226M	ENST00000248076	NM_003950.2	226	Gtg/Atg	0			1			A	V/M	uc002nfa.2	protein_coding	YES	CCDS12350.1			676/1158										0	c.(676-678)GTG>ATG			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR01430,PROSITE_profiles:PS50262,hmmpanther:PTHR24232,hmmpanther:PTHR24232:SF22,Superfamily_domains:SSF81321	coagulation factor II (thrombin) receptor-like 3				ENSP00000248076		2-Feb	8.36E-06	0.000153							rs769425674,COSM3403897	2-Feb	.		ENST00000248076	Transcript			activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity	ENSG00000127533	g.chr19:17000950G>A	3540			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=PAR4_HUMAN&rb=94&re=340&var=V226M	getma.org/pdb.php?prot=PAR4_HUMAN&from=94&to=340&var=V226M	getma.org/?cm=var&var=hg19,19,17000950,G,A&fts=all	V226M	--	--	1																																			0,1	1		benign(0.148)	p.V226M	NM_003950	NP_003941		tolerated(0.15)	0,1	PAR4_HUMAN	F2RL3	HGNC	Q96RI0	PAR4_HUMAN					2	851	+			UPI000013CC36	226			Extracellular (Potential).		SNV	F2RL3,missense_variant,p.Val226Met,ENST00000248076,NM_003950.2;CPAMD8,downstream_gene_variant,,ENST00000443236,NM_015692.2;CPAMD8,downstream_gene_variant,,ENST00000594249,;F2RL3,downstream_gene_variant,,ENST00000599210,;CPAMD8,downstream_gene_variant,,ENST00000598792,;CPAMD8,downstream_gene_variant,,ENST00000597335,;CPAMD8,downstream_gene_variant,,ENST00000598547,;CPAMD8,downstream_gene_variant,,ENST00000602132,;CPAMD8,downstream_gene_variant,,ENST00000600235,;CPAMD8,downstream_gene_variant,,ENST00000596224,;CPAMD8,downstream_gene_variant,,ENST00000601782,;CPAMD8,downstream_gene_variant,,ENST00000597709,;	uc002nfa.2	c.676G>A	1006/3473	2	2			c.676G>A						19	SNP	c.(676-678)GTG>ATG	47	47				0	Broad	coagulation factor II (thrombin) receptor-like 3			17000950		0.701	ENSG00000127533	5259	g.chr19:17000950G>A	activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity							8.792603	KEEP	1	3	-1	6	8	1	3	-1	9.531238	6	8	0.266667	1	0	0	0	0	1	0	0	0	--	--		0	A				228	GBM-32-1970-TP	p.V226M	G	CTCCGATCGCGTGCTCTGCCA	NM_003950	NP_003941	17000950	Q96RI0	PAR4_HUMAN	0			2	851	+	A	A			Missense_Mutation	226			Extracellular (Potential).			
F2RL3	9002		GRCh37	19	17000842	17000842	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000248076.3:c.568C>T	p.Arg190Trp	p.R190W	ENST00000248076	NM_003950.2	190	Cgg/Tgg	0																																																																																																																																																																																																																																												
F5	2153	broad.mit.edu	GRCh37	1	169512354	169512354	+	splice_acceptor_variant	Splice_Site	SNP	T	T	G			TCGA-06-0210-01	TCGA-06-0210-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367797.3:c.1976-2A>C		p.X659_splice	ENST00000367797	NM_000130.4	659		0			1			G		uc001ggg.1	protein_coding	YES	CCDS1281.1			1976/6675									ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	c.e13-1				coagulation factor V precursor	Drotrecogin alfa(DB00055)			ENSP00000356771											COSM2150718		.		ENST00000367797	Transcript	1		cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	ENSG00000198734	g.chr1:169512354T>G	3542			HIGH	24-Dec							--	--	1																																			1	1			p.G659_splice	NM_000130	NP_000121			1	FA5_HUMAN	F5	HGNC	P12259	FA5_HUMAN			Q8TD21_HUMAN,Q2HZZ1_HUMAN,Q1L610_HUMAN		13	2121	-	all_hematologic(923;0.208)		UPI0000070F01						SNV	F5,splice_acceptor_variant,,ENST00000367796,;F5,splice_acceptor_variant,,ENST00000367797,NM_000130.4;F5,downstream_gene_variant,,ENST00000546081,;	uc001ggg.1	c.1976_splice	-/7024	5	3			c.1976_splice						1	SNP	c.e13-1	11	11			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Broad	coagulation factor V precursor		Drotrecogin alfa(DB00055)	169512354		0.383	ENSG00000198734	5261	g.chr1:169512354T>G	cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity							46.035004	KEEP	14	5	-1	38	34	14	5	-1	52.538333	38	34	0.207317	1	0	0	0	0	0	0	0	1	--	--		0	G				47	GBM-06-0210-TP	p.G659_splice	T	TCCAAGTTCCTACAGAAGAGA	NM_000130	NP_000121	169512354	P12259	FA5_HUMAN	0			13	2121	-	G	G	all_hematologic(923;0.208)		Splice_Site							
F5	2153	broad.mit.edu	GRCh37	1	169484809	169484809	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01	TCGA-06-5408-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367797.3:c.6401C>T	p.Thr2134Met	p.T2134M	ENST00000367797	NM_000130.4	2134	aCg/aTg	0	A:0		1			A	T/M	uc001ggg.1	protein_coding	YES	CCDS1281.1			6401/6675									ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	c.(6400-6402)ACG>ATG			Gene3D:2.60.120.260,Pfam_domain:PF00754,PROSITE_patterns:PS01285,PROSITE_profiles:PS50022,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF597,Low_complexity_(Seg):seg,SMART_domains:SM00231,Superfamily_domains:SSF49785	coagulation factor V precursor	Drotrecogin alfa(DB00055)		A:0.0001	ENSP00000356771		24/25	0.000222				0.000758	0.000315		6.06E-05	rs199601865,COSM899252	24/25	common_variant		ENST00000367797	Transcript	1		cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	ENSG00000198734	g.chr1:169484809G>A	3542			MODERATE		2.82	medium	getma.org/?cm=msa&ty=f&p=FA5_HUMAN&rb=2081&re=2218&var=T2134M	getma.org/pdb.php?prot=FA5_HUMAN&from=2081&to=2218&var=T2134M	getma.org/?cm=var&var=hg19,1,169484809,G,A&fts=all	T2134M	--	--	1																																			0,1	1		probably_damaging(1)	p.T2134M	NM_000130	NP_000121		deleterious(0)	0,1	FA5_HUMAN	F5	HGNC	P12259	FA5_HUMAN			Q8TD21_HUMAN,Q2HZZ1_HUMAN,Q1L610_HUMAN		24	6546	-	all_hematologic(923;0.208)		UPI0000070F01	2134			F5/8 type C 2.		SNV	F5,missense_variant,p.Thr2139Met,ENST00000367796,;F5,missense_variant,p.Thr2134Met,ENST00000367797,NM_000130.4;F5,non_coding_transcript_exon_variant,,ENST00000495481,;	uc001ggg.1	c.6401C>T	6603/7024	1	1			c.6401C>T						1	SNP	c.(6400-6402)ACG>ATG	51	51			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Broad	coagulation factor V precursor		Drotrecogin alfa(DB00055)	169484809		0.388	ENSG00000198734	5261	g.chr1:169484809G>A	cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity							-18.767344	KEEP	4	0	-1	48	62	4	0	-1	6.859572	48	62	0.036364	1	0	0	0	0	1	0	0	0	--	--		0	A				92	GBM-06-5408-TP	p.T2134M	G	TATAATTGCCGTTATCTTCTT	NM_000130	NP_000121	169484809	P12259	FA5_HUMAN	0			24	6546	-	A	A	all_hematologic(923;0.208)		Missense_Mutation	2134			F5/8 type C 2.			
F5	2153	broad.mit.edu	GRCh37	1	169509611	169509611	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5418-01	TCGA-06-5418-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367797.3:c.4717C>T	p.Arg1573Cys	p.R1573C	ENST00000367797	NM_000130.4	1573	Cgc/Tgc	0			1			A	R/C	uc001ggg.1	protein_coding	YES	CCDS1281.1			4717/6675									ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	c.(4717-4719)CGC>TGC			hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF597	coagulation factor V precursor	Drotrecogin alfa(DB00055)			ENSP00000356771		13/25									COSM2153350	13/25	.		ENST00000367797	Transcript	1		cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	ENSG00000198734	g.chr1:169509611G>A	3542			MODERATE		2.995	medium	getma.org/?cm=msa&ty=f&p=FA5_HUMAN&rb=1540&re=1639&var=R1573C	getma.org/pdb.php?prot=FA5_HUMAN&from=1540&to=1639&var=R1573C	getma.org/?cm=var&var=hg19,1,169509611,G,A&fts=all	R1573C	--	--	1																																			1	1		probably_damaging(0.975)	p.R1573C	NM_000130	NP_000121		deleterious(0)	1	FA5_HUMAN	F5	HGNC	P12259	FA5_HUMAN			Q8TD21_HUMAN,Q2HZZ1_HUMAN,Q1L610_HUMAN		13	4862	-	all_hematologic(923;0.208)		UPI0000070F01	1573			B.	Cleavage; by thrombin.	SNV	F5,missense_variant,p.Arg1578Cys,ENST00000367796,;F5,missense_variant,p.Arg1573Cys,ENST00000367797,NM_000130.4;	uc001ggg.1	c.4717C>T	4919/7024	2	2			c.4717C>T						1	SNP	c.(4717-4719)CGC>TGC	28	28			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Broad	coagulation factor V precursor		Drotrecogin alfa(DB00055)	169509611		0.398	ENSG00000198734	5261	g.chr1:169509611G>A	cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity							132.811838	KEEP	26	22	-1	48	40	26	22	-1	135.041608	48	40	0.359375	1	0	0	0	0	1	0	0	0	--	--		0	A				100	GBM-06-5418-TP	p.R1573C	G	TTGTTGCTGCGGAGGTACCAT	NM_000130	NP_000121	169509611	P12259	FA5_HUMAN	0			13	4862	-	A	A	all_hematologic(923;0.208)		Missense_Mutation	1573			B.	Cleavage; by thrombin.		
F5	0	broad.mit.edu	GRCh37	1	169489788	169489788	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2619-01	TCGA-19-2619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367797.3:c.6163C>T	p.Arg2055Ter	p.R2055*	ENST00000367797	NM_000130.4	2055	Cga/Tga	0			1			A	R/*	uc001ggg.1	protein_coding	YES	CCDS1281.1			6163/6675									ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	c.(6163-6165)CGA>TGA			Gene3D:2.60.120.260,Pfam_domain:PF00754,PROSITE_patterns:PS01286,PROSITE_profiles:PS50022,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF597,SMART_domains:SM00231,Superfamily_domains:SSF49785	coagulation factor V precursor	Drotrecogin alfa(DB00055)			ENSP00000356771		22/25	1.65E-05				0.000151	1.50E-05			rs199690772,COSM2156167	22/25	.		ENST00000367797	Transcript	1		cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	ENSG00000198734	g.chr1:169489788G>A	3542			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,169489788,G,A&fts=all	R2055*	--	--	1																																			0,1	1			p.R2055*	NM_000130	NP_000121			0,1	FA5_HUMAN	F5	HGNC	P12259	FA5_HUMAN			Q8TD21_HUMAN,Q2HZZ1_HUMAN,Q1L610_HUMAN		22	6308	-	all_hematologic(923;0.208)		UPI0000070F01	2055			F5/8 type C 1.		SNV	F5,stop_gained,p.Arg2060Ter,ENST00000367796,;F5,stop_gained,p.Arg2055Ter,ENST00000367797,NM_000130.4;F5,upstream_gene_variant,,ENST00000495481,;	uc001ggg.1	c.6163C>T	6365/7024	5	1			c.6163C>T						1	SNP	c.(6163-6165)CGA>TGA	49	49			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Broad	coagulation factor V precursor		Drotrecogin alfa(DB00055)	169489788		0.403	ENSG00000198734	5261	g.chr1:169489788G>A	cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity							171.643016	KEEP	39	21	-1	39	36	39	21	-1	171.793195	39	36	0.461538	1	0	0	0	0	0	1	0	0	--	--		0	A				161	GBM-19-2619-TP	p.R2055*	G	AGTTCCAATCGAAGGGTAGGT	NM_000130	NP_000121	169489788	P12259	FA5_HUMAN	0			22	6308	-	A	A	all_hematologic(923;0.208)		Nonsense_Mutation	2055			F5/8 type C 1.			
F7	0	broad.mit.edu	GRCh37	13	113771870	113771870	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-2518-01	TCGA-27-2518-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375581.3:c.765C>T	p.Phe255=	p.F255=	ENST00000375581	NM_000131.4	255	ttC/ttT	0	T:0	T:0.0008	1	T:0		T	F	uc001vsv.2	protein_coding	YES	CCDS9528.1			765/1401										0	c.(763-765)TTC>TTT			PROSITE_profiles:PS50240,hmmpanther:PTHR24265:SF34,hmmpanther:PTHR24265,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,PIRSF_domain:PIRSF001143,Superfamily_domains:SSF50494	coagulation factor VII isoform a precursor	Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	T:0	T:0.0001	ENSP00000364731	T:0	9-Aug	3.29E-05	0.000289				1.50E-05			rs376480781,COSM3399245	9-Aug	.		ENST00000375581	Transcript	1	T:0.0002	anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	ENSG00000057593	g.chr13:113771870C>T	3544			LOW								--	--	1																																		F7_uc001vsw.2_Silent_p.F233F|F7_uc010tjt.1_Silent_p.F186F	0,1	1			p.F255F	NM_000131	NP_000122	T:0		0,1	FA7_HUMAN	F7	HGNC	P08709	FA7_HUMAN	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Q9UMU6_HUMAN,A3RKG7_HUMAN		8	816	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	UPI000012A414	255			Peptidase S1.		SNV	F7,synonymous_variant,p.=,ENST00000375581,NM_000131.4;F7,synonymous_variant,p.=,ENST00000346342,NM_019616.3;F7,synonymous_variant,p.=,ENST00000541084,NM_001267554.1;F7,downstream_gene_variant,,ENST00000473085,;F7,downstream_gene_variant,,ENST00000479674,;F7,downstream_gene_variant,,ENST00000444337,;	uc001vsv.2	c.765C>T	800/3109	2	2			c.765C>T						13	SNP	c.(763-765)TTC>TTT	18	18				0	Broad	coagulation factor VII isoform a precursor		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	113771870		0.622	ENSG00000057593	5262	g.chr13:113771870C>T	anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity							63.291405	KEEP	13	25	-1	97	82	13	25	-1	82.596019	97	82	0.177665	1	0	0	0	0	0	0	1	0	--	--		0	T			F7_uc001vsw.2_Silent_p.F233F|F7_uc010tjt.1_Silent_p.F186F	198	GBM-27-2518-TP	p.F255F	C	CCCACTGTTTCGACAAAATCA	NM_000131	NP_000122	113771870	P08709	FA7_HUMAN	0	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		8	816	+	T	T	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	Silent	255			Peptidase S1.			
F8	2157	broad.mit.edu	GRCh37	X	154156957	154156957	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-02-0055-01	TCGA-02-0055-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360256.4:c.5108A>C	p.Glu1703Ala	p.E1703A	ENST00000360256	NM_000132.3	1703	gAa/gCa	0			1			G	E/A	uc004fmt.2	protein_coding	YES	CCDS35457.1			5108/7056									ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	c.(5107-5109)GAA>GCA			hmmpanther:PTHR10127:SF50,hmmpanther:PTHR10127,PIRSF_domain:PIRSF000354	coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)			ENSP00000353393		14/26	2.47E-05					6.34E-05			rs782656499,COSM3406173,COSM3406172	14/26	.		ENST00000360256	Transcript	1		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	ENSG00000185010	g.chrX:154156957T>G	3546			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=FA8_HUMAN&rb=1669&re=1868&var=E1703A	NA	getma.org/?cm=var&var=hg19,X,154156957,T,G&fts=all	E1703A	--	--	1																																			0,1,1	1		benign(0.045)	p.E1703A	NM_000132	NP_000123		tolerated(0.05)	0,1,1	FA8_HUMAN	F8	HGNC	P00451	FA8_HUMAN			Q9UQQ5_HUMAN,Q71UI6_HUMAN,Q2VF45_HUMAN,Q003V9_HUMAN,Q003V5_HUMAN,A0FJ19_HUMAN,A0A2G6_HUMAN		14	5279	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		UPI000012A416	1703					SNV	F8,missense_variant,p.Glu1703Ala,ENST00000360256,NM_000132.3;	uc004fmt.2	c.5108A>C	5309/9059	3	3			c.5108A>C						23	SNP	c.(5107-5109)GAA>GCA	14	14			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	Broad	coagulation factor VIII isoform a precursor		Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	154156957		0.408	ENSG00000185010	5263	g.chrX:154156957T>G	acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			359			359	-23.004366	KEEP	3	1	-1	59	73	3	1	-1	9.21429	59	73	0.030075	1	0	0	0	0	1	0	0	0	--	--		0	G				4	GBM-02-0055-TP	p.E1703A	T	GCTCTGATTTTCATCCTCATC	NM_000132	NP_000123	154156957	P00451	FA8_HUMAN	0			14	5279	-	G	G	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		Missense_Mutation	1703						
F8	2157	broad.mit.edu	GRCh37	X	154225292	154225292	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0649-01	TCGA-06-0649-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360256.4:c.344T>A	p.Val115Asp	p.V115D	ENST00000360256	NM_000132.3	115	gTc/gAc	0			1			T	V/D	uc004fmt.2	protein_coding	YES	CCDS35457.1			344/7056									ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	c.(343-345)GTC>GAC			Gene3D:2.60.40.420,Pfam_domain:PF07732,PIRSF_domain:PIRSF000354,Superfamily_domains:SSF49503	coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)			ENSP00000353393		26-Mar									COSM2151528,COSM2151527	26-Mar	.		ENST00000360256	Transcript	1		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	ENSG00000185010	g.chrX:154225292A>T	3546			MODERATE		2.2	medium	getma.org/?cm=msa&ty=f&p=FA8_HUMAN&rb=88&re=202&var=V115D	getma.org/pdb.php?prot=FA8_HUMAN&from=88&to=202&var=V115D	getma.org/?cm=var&var=hg19,X,154225292,A,T&fts=all	V115D	--	--	1																																		F8_uc011mzx.1_Missense_Mutation_p.V80D	1,1	1		probably_damaging(0.953)	p.V115D	NM_000132	NP_000123		deleterious(0)	1,1	FA8_HUMAN	F8	HGNC	P00451	FA8_HUMAN			Q9UQQ5_HUMAN,Q71UI6_HUMAN,Q2VF45_HUMAN,Q003V9_HUMAN,Q003V5_HUMAN,A0FJ19_HUMAN,A0A2G6_HUMAN		3	515	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		UPI000012A416	115			Plastocyanin-like 1.|F5/8 type A 1.		SNV	F8,missense_variant,p.Val115Asp,ENST00000360256,NM_000132.3;F8,missense_variant,p.Val80Asp,ENST00000423959,;F8,missense_variant,p.Val109Asp,ENST00000453950,;	uc004fmt.2	c.344T>A	545/9059	2	2			c.344T>A						23	SNP	c.(343-345)GTC>GAC	48	48			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	Broad	coagulation factor VIII isoform a precursor		Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	154225292		0.448	ENSG00000185010	5263	g.chrX:154225292A>T	acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			359			359	186.591759	KEEP	55	50	-1	130	131	55	50	-1	199.602281	130	131	0.287926	1	0	0	0	0	1	0	0	0	--	--		0	T			F8_uc011mzx.1_Missense_Mutation_p.V80D	62	GBM-06-0649-TP	p.V115D	A	ATGAAGACTGACAGGATGGGA	NM_000132	NP_000123	154225292	P00451	FA8_HUMAN	0			3	515	-	T	T	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		Missense_Mutation	115			Plastocyanin-like 1.|F5/8 type A 1.			
F8	0	broad.mit.edu	GRCh37	X	154185266	154185266	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-2554-01	TCGA-14-2554-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360256.4:c.1718G>T	p.Cys573Phe	p.C573F	ENST00000360256	NM_000132.3	573	tGc/tTc	0			1			A	C/F	uc004fmt.2	protein_coding	YES	CCDS35457.1			1718/7056									ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	c.(1717-1719)TGC>TTC			hmmpanther:PTHR10127:SF50,hmmpanther:PTHR10127,Gene3D:2.60.40.420,PIRSF_domain:PIRSF000354,Superfamily_domains:SSF49503	coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)			ENSP00000353393		26-Nov									COSM3406175,COSM3406174	26-Nov	.		ENST00000360256	Transcript	1		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	ENSG00000185010	g.chrX:154185266C>A	3546			MODERATE		3.535	high	getma.org/?cm=msa&ty=f&p=FA8_HUMAN&rb=444&re=577&var=C573F	getma.org/pdb.php?prot=FA8_HUMAN&from=444&to=577&var=C573F	getma.org/?cm=var&var=hg19,X,154185266,C,A&fts=all	C573F	--	--	1																																			1,1	1		probably_damaging(1)	p.C573F	NM_000132	NP_000123		deleterious(0)	1,1	FA8_HUMAN	F8	HGNC	P00451	FA8_HUMAN			Q9UQQ5_HUMAN,Q71UI6_HUMAN,Q2VF45_HUMAN,Q003V9_HUMAN,Q003V5_HUMAN,A0FJ19_HUMAN,A0A2G6_HUMAN		11	1889	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		UPI000012A416	573			F5/8 type A 2.|Plastocyanin-like 3.		SNV	F8,missense_variant,p.Cys573Phe,ENST00000360256,NM_000132.3;	uc004fmt.2	c.1718G>T	1919/9059	2	2			c.1718G>T						23	SNP	c.(1717-1719)TGC>TTC	21	21			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	Broad	coagulation factor VIII isoform a precursor		Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	154185266		0.448	ENSG00000185010	5263	g.chrX:154185266C>A	acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			359			359	264.868268	KEEP	54	65	0.546218487	193	220	54	65	0.546218487	295.277538	193	220	0.230937	1	0	0	0	0	1	0	0	0	--	--		0	A				150	GBM-14-2554-TP	p.C573F	C	TTCTTTGTAGCAGATGAGGAG	NM_000132	NP_000123	154185266	P00451	FA8_HUMAN	0			11	1889	-	A	A	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		Missense_Mutation	573			F5/8 type A 2.|Plastocyanin-like 3.			
F8	0	broad.mit.edu	GRCh37	X	154194774	154194774	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-19-4068-01	TCGA-19-4068-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360256.4:c.1198delA	p.Thr400LeufsTer18	p.T400Lfs*18	ENST00000360256	NM_000132.3	400	Act/ct	0			1			-	T/X	uc004fmt.2	protein_coding	YES	CCDS35457.1			1198/7056									ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	c.(1198-1200)ACTfs			hmmpanther:PTHR10127:SF50,hmmpanther:PTHR10127,Gene3D:2.60.40.420,PIRSF_domain:PIRSF000354,Superfamily_domains:SSF49503	coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)			ENSP00000353393		26-Aug									COSM2156473,COSM2156472	26-Aug	.		ENST00000360256	Transcript	1		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	ENSG00000185010	g.chrX:154194774delT	3546			HIGH								--	--	1																																			1,1	1			p.T400fs	NM_000132	NP_000123			1,1	FA8_HUMAN	F8	HGNC	P00451	FA8_HUMAN			Q9UQQ5_HUMAN,Q71UI6_HUMAN,Q2VF45_HUMAN,Q003V9_HUMAN,Q003V5_HUMAN,A0FJ19_HUMAN,A0A2G6_HUMAN		8	1369	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		UPI000012A416	400			F5/8 type A 2.|Plastocyanin-like 3.		deletion	F8,frameshift_variant,p.Thr400LeufsTer18,ENST00000360256,NM_000132.3;F8,non_coding_transcript_exon_variant,,ENST00000483822,;	uc004fmt.2	c.1198delA	1399/9059	5	5			c.1198delA						23	DEL	c.(1198-1200)ACTfs	35	35			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	Broad	coagulation factor VIII isoform a precursor		Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	154194774		0.448	ENSG00000185010	5263	g.chrX:154194774delT	acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			359			359														0.37	1	1	0	1	0	0	0	0	0	--	--		0	-				168	GBM-19-4068-TP	p.T400fs	T	TGTACCCAAGTTTTAGGATGC	NM_000132	NP_000123	154194774	P00451	FA8_HUMAN	0			8	1369	-	-	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		Frame_Shift_Del	400			F5/8 type A 2.|Plastocyanin-like 3.			
F8	0	broad.mit.edu	GRCh37	X	154185438	154185438	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-5139-01	TCGA-26-5139-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360256.4:c.1546C>T	p.His516Tyr	p.H516Y	ENST00000360256	NM_000132.3	516	Cat/Tat	0			1			A	H/Y	uc004fmt.2	protein_coding	YES	CCDS35457.1			1546/7056									ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	c.(1546-1548)CAT>TAT			hmmpanther:PTHR10127:SF50,hmmpanther:PTHR10127,Gene3D:2.60.40.420,Pfam_domain:PF07732,PIRSF_domain:PIRSF000354,Superfamily_domains:SSF49503	coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)			ENSP00000353393		26-Nov	2.47E-05					4.18E-05			rs782659883,COSM2157163,COSM2157162	26-Nov	.		ENST00000360256	Transcript	1		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	ENSG00000185010	g.chrX:154185438G>A	3546			MODERATE		-0.32	neutral	getma.org/?cm=msa&ty=f&p=FA8_HUMAN&rb=444&re=577&var=H516Y	getma.org/pdb.php?prot=FA8_HUMAN&from=444&to=577&var=H516Y	getma.org/?cm=var&var=hg19,X,154185438,G,A&fts=all	H516Y	--	--	1																																			0,1,1	1		probably_damaging(0.979)	p.H516Y	NM_000132	NP_000123		deleterious(0.01)	0,1,1	FA8_HUMAN	F8	HGNC	P00451	FA8_HUMAN			Q9UQQ5_HUMAN,Q71UI6_HUMAN,Q2VF45_HUMAN,Q003V9_HUMAN,Q003V5_HUMAN,A0FJ19_HUMAN,A0A2G6_HUMAN		11	1717	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		UPI000012A416	516			F5/8 type A 2.|Plastocyanin-like 3.		SNV	F8,missense_variant,p.His516Tyr,ENST00000360256,NM_000132.3;	uc004fmt.2	c.1546C>T	1747/9059	1	1			c.1546C>T						23	SNP	c.(1546-1548)CAT>TAT	55	55			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	Broad	coagulation factor VIII isoform a precursor		Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	154185438		0.378	ENSG00000185010	5263	g.chrX:154185438G>A	acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			359			359	213.904911	KEEP	43	55	-1	62	69	43	55	-1	215.099994	62	69	0.419811	1	0	0	0	0	1	0	0	0	--	--		0	A				186	GBM-26-5139-TP	p.H516Y	G	TCCTTCAAATGTTTTACACCT	NM_000132	NP_000123	154185438	P00451	FA8_HUMAN	0			11	1717	-	A	A	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		Missense_Mutation	516			F5/8 type A 2.|Plastocyanin-like 3.			
F8	0	broad.mit.edu	GRCh37	X	154159916	154159916	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs137852435		TCGA-27-1836-01	TCGA-27-1836-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360256.4:c.2149C>T	p.Arg717Trp	p.R717W	ENST00000360256	NM_000132.3	717	Cgg/Tgg	0			1			A	R/W	uc004fmt.2	protein_coding	YES	CCDS35457.1			2149/7056						pathogenic			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	c.(2149-2151)CGG>TGG			hmmpanther:PTHR10127:SF50,hmmpanther:PTHR10127,PROSITE_patterns:PS00079,Gene3D:2.60.40.420,PIRSF_domain:PIRSF000354,Superfamily_domains:SSF49503	coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)			ENSP00000353393		14/26									rs137852435,COSM1118264,COSM1118265	14/26	.		ENST00000360256	Transcript	1		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	ENSG00000185010	g.chrX:154159916G>A	3546			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=FA8_HUMAN&rb=399&re=730&var=R717W	getma.org/pdb.php?prot=FA8_HUMAN&from=399&to=730&var=R717W	getma.org/?cm=var&var=hg19,X,154159916,G,A&fts=all	R717W	--	--	1																																			1,1,1	1		probably_damaging(0.999)	p.R717W	NM_000132	NP_000123		deleterious(0)	0,1,1	FA8_HUMAN	F8	HGNC	P00451	FA8_HUMAN			Q9UQQ5_HUMAN,Q71UI6_HUMAN,Q2VF45_HUMAN,Q003V9_HUMAN,Q003V5_HUMAN,A0FJ19_HUMAN,A0A2G6_HUMAN		14	2320	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		UPI000012A416	717		R -> L (in HEMA; mild).|R -> W (in HEMA; mild).	F5/8 type A 2.|Plastocyanin-like 4.		SNV	F8,missense_variant,p.Arg717Trp,ENST00000360256,NM_000132.3;	uc004fmt.2	c.2149C>T	2350/9059	1	1			c.2149C>T						23	SNP	c.(2149-2151)CGG>TGG	54	54			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	Broad	coagulation factor VIII isoform a precursor		Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	154159916		0.423	ENSG00000185010	5263	g.chrX:154159916G>A	acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			359			359	148.436787	KEEP	27	30	-1	68	58	27	30	-1	154.008141	68	58	0.307692	1	0	0	0	0	1	0	0	0	--	--		0	A				195	GBM-27-1836-TP	p.R717W	G	CCTCTGTTCCGAAAGTCTGAG	NM_000132	NP_000123	154159916	P00451	FA8_HUMAN	0			14	2320	-	A	A	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		Missense_Mutation	717		R -> L (in HEMA; mild).|R -> W (in HEMA; mild).	F5/8 type A 2.|Plastocyanin-like 4.			
F9	2158	broad.mit.edu	GRCh37	X	138623341	138623341	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-02-0055-01	TCGA-02-0055-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000218099.2:c.384T>G	p.Cys128Trp	p.C128W	ENST00000218099	NM_000133.3	128	tgT/tgG	0			1			G	C/W	uc004fas.1	protein_coding	YES	CCDS14666.1			384/1386									lung(2)|ovary(1)	3	c.(382-384)TGT>TGG			Gene3D:2.10.25.10,PIRSF_domain:PIRSF001143,Prints_domain:PR00010,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF23,SMART_domains:SM00179,SMART_domains:SM00181	coagulation factor IX preproprotein	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)			ENSP00000218099		8-Apr									COSM3406005	8-Apr	.		ENST00000218099	Transcript	1		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	ENSG00000101981	g.chrX:138623341T>G	3551			MODERATE		4.795	high	getma.org/?cm=msa&ty=f&p=FA9_HUMAN&rb=93&re=129&var=C128W	getma.org/pdb.php?prot=FA9_HUMAN&from=93&to=129&var=C128W	getma.org/?cm=var&var=hg19,X,138623341,T,G&fts=all	C128W	--	--	1																																		F9_uc004fat.1_Intron	1	1		probably_damaging(1)	p.C128W	NM_000133	NP_000124		deleterious(0)	1	FA9_HUMAN	F9	HGNC	P00740	FA9_HUMAN			Q86XR9_HUMAN,Q19UL6_HUMAN,Q19UK7_HUMAN,Q19UK5_HUMAN,Q19UK4_HUMAN,Q19UK3_HUMAN,Q19UI2_HUMAN,Q19UH6_HUMAN,Q19UG6_HUMAN		4	413	+	Acute lymphoblastic leukemia(192;0.000127)		UPI000002BA13	128			EGF-like 1; calcium-binding (Potential).		SNV	F9,missense_variant,p.Cys128Trp,ENST00000218099,NM_000133.3;F9,intron_variant,,ENST00000394090,;F9,non_coding_transcript_exon_variant,,ENST00000479617,;	uc004fas.1	c.384T>G	391/2780	3	3			c.384T>G						23	SNP	c.(382-384)TGT>TGG	11	11			lung(2)|ovary(1)	3	Broad	coagulation factor IX preproprotein		Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	138623341		0.348	ENSG00000101981	5264	g.chrX:138623341T>G	blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity							-18.000001	KEEP	2	2	-1	54	61	2	2	-1	8.503098	54	61	0.035398	1	0	0	0	0	1	0	0	0	--	--		0	G			F9_uc004fat.1_Intron	4	GBM-02-0055-TP	p.C128W	T	GAAAGAACTGTGAATTAGGTA	NM_000133	NP_000124	138623341	P00740	FA9_HUMAN	0			4	413	+	G	G	Acute lymphoblastic leukemia(192;0.000127)		Missense_Mutation	128			EGF-like 1; calcium-binding (Potential).			
F9	0	broad.mit.edu	GRCh37	X	138643736	138643736	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs137852250		TCGA-12-5301-01	TCGA-12-5301-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000218099.2:c.892C>T	p.Arg298Ter	p.R298*	ENST00000218099	NM_000133.3	298	Cga/Tga	0			1			T	R/*	uc004fas.1	protein_coding	YES	CCDS14666.1			892/1386						pathogenic			lung(2)|ovary(1)	3	c.(892-894)CGA>TGA			Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF001143,PROSITE_profiles:PS50240,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF23,SMART_domains:SM00020,Superfamily_domains:SSF50494	coagulation factor IX preproprotein	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)			ENSP00000218099		8-Aug									rs137852250,COSM3232163	8-Aug	.		ENST00000218099	Transcript	1		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	ENSG00000101981	g.chrX:138643736C>T	3551			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,X,138643736,C,T&fts=all	R298*	--	--	1																																		F9_uc004fat.1_Nonsense_Mutation_p.R260*	1,1	1			p.R298*	NM_000133	NP_000124			0,1	FA9_HUMAN	F9	HGNC	P00740	FA9_HUMAN			Q86XR9_HUMAN,Q19UL6_HUMAN,Q19UK7_HUMAN,Q19UK5_HUMAN,Q19UK4_HUMAN,Q19UK3_HUMAN,Q19UI2_HUMAN,Q19UH6_HUMAN,Q19UG6_HUMAN		8	921	+	Acute lymphoblastic leukemia(192;0.000127)		UPI000002BA13	298			Peptidase S1.		SNV	F9,stop_gained,p.Arg298Ter,ENST00000218099,NM_000133.3;F9,stop_gained,p.Arg260Ter,ENST00000394090,;	uc004fas.1	c.892C>T	899/2780	5	2			c.892C>T						23	SNP	c.(892-894)CGA>TGA	34	34			lung(2)|ovary(1)	3	Broad	coagulation factor IX preproprotein		Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	138643736		0.353	ENSG00000101981	5264	g.chrX:138643736C>T	blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity							373.197456	KEEP	64	62	-1	11	8	64	62	-1	391.872856	11	8	0.875	1	0	0	0	0	0	1	0	0	--	--		0	T			F9_uc004fat.1_Nonsense_Mutation_p.R260*	131	GBM-12-5301-TP	p.R298*	C	AAATGTGATTCGAATTATTCC	NM_000133	NP_000124	138643736	P00740	FA9_HUMAN	0			8	921	+	T	T	Acute lymphoblastic leukemia(192;0.000127)		Nonsense_Mutation	298			Peptidase S1.			
F9	0	broad.mit.edu	GRCh37	X	138643014	138643014	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-0861-01	TCGA-16-0861-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000218099.2:c.838G>A	p.Gly280Ser	p.G280S	ENST00000218099	NM_000133.3	280	Ggt/Agt	0			1			A	G/S	uc004fas.1	protein_coding	YES	CCDS14666.1			838/1386									lung(2)|ovary(1)	3	c.(838-840)GGT>AGT			Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF001143,PROSITE_profiles:PS50240,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF23,SMART_domains:SM00020,Superfamily_domains:SSF50494	coagulation factor IX preproprotein	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)			ENSP00000218099		8-Jul									COSM3406006	8-Jul	.		ENST00000218099	Transcript	1		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	ENSG00000101981	g.chrX:138643014G>A	3551			MODERATE		3.2	medium	getma.org/?cm=msa&ty=f&p=FA9_HUMAN&rb=227&re=454&var=G280S	getma.org/pdb.php?prot=FA9_HUMAN&from=227&to=454&var=G280S	getma.org/?cm=var&var=hg19,X,138643014,G,A&fts=all	G280S	--	--	1																																		F9_uc004fat.1_Missense_Mutation_p.G242S	1	1		probably_damaging(1)	p.G280S	NM_000133	NP_000124		deleterious(0)	1	FA9_HUMAN	F9	HGNC	P00740	FA9_HUMAN			Q86XR9_HUMAN,Q19UL6_HUMAN,Q19UK7_HUMAN,Q19UK5_HUMAN,Q19UK4_HUMAN,Q19UK3_HUMAN,Q19UI2_HUMAN,Q19UH6_HUMAN,Q19UG6_HUMAN		7	867	+	Acute lymphoblastic leukemia(192;0.000127)		UPI000002BA13	280			Peptidase S1.		SNV	F9,missense_variant,p.Gly280Ser,ENST00000218099,NM_000133.3;F9,missense_variant,p.Gly242Ser,ENST00000394090,;	uc004fas.1	c.838G>A	845/2780	1	1			c.838G>A						23	SNP	c.(838-840)GGT>AGT	52	52			lung(2)|ovary(1)	3	Broad	coagulation factor IX preproprotein		Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	138643014		0.343	ENSG00000101981	5264	g.chrX:138643014G>A	blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity							252.497878	KEEP	42	33	-1	12	10	42	33	-1	258.542183	12	10	0.769231	1	0	0	0	0	1	0	0	0	--	--		0	A			F9_uc004fat.1_Missense_Mutation_p.G242S	156	GBM-16-0861-TP	p.G280S	G	AGTTGTCGCAGGTAAATACAC	NM_000133	NP_000124	138643014	P00740	FA9_HUMAN	0			7	867	+	A	A	Acute lymphoblastic leukemia(192;0.000127)		Missense_Mutation	280			Peptidase S1.			
F9	0	broad.mit.edu	GRCh37	X	138643870	138643870	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-4068-01	TCGA-19-4068-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000218099.2:c.1026G>A	p.Thr342=	p.T342=	ENST00000218099	NM_000133.3	342	acG/acA	0			1			A	T	uc004fas.1	protein_coding	YES	CCDS14666.1			1026/1386									lung(2)|ovary(1)	3	c.(1024-1026)ACG>ACA			Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF001143,PROSITE_profiles:PS50240,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF23,SMART_domains:SM00020,Superfamily_domains:SSF50494	coagulation factor IX preproprotein	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)			ENSP00000218099		8-Aug									COSM2156501	8-Aug	.		ENST00000218099	Transcript	1		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	ENSG00000101981	g.chrX:138643870G>A	3551			LOW								--	--	1																																		F9_uc004fat.1_Silent_p.T304T	1	1			p.T342T	NM_000133	NP_000124			1	FA9_HUMAN	F9	HGNC	P00740	FA9_HUMAN			Q86XR9_HUMAN,Q19UL6_HUMAN,Q19UK7_HUMAN,Q19UK5_HUMAN,Q19UK4_HUMAN,Q19UK3_HUMAN,Q19UI2_HUMAN,Q19UH6_HUMAN,Q19UG6_HUMAN		8	1055	+	Acute lymphoblastic leukemia(192;0.000127)		UPI000002BA13	342		T -> K (in HEMB; mild).|T -> M (in HEMB; moderate).	Peptidase S1.		SNV	F9,synonymous_variant,p.=,ENST00000218099,NM_000133.3;F9,synonymous_variant,p.=,ENST00000394090,;	uc004fas.1	c.1026G>A	1033/2780	2	2			c.1026G>A						23	SNP	c.(1024-1026)ACG>ACA	45	45			lung(2)|ovary(1)	3	Broad	coagulation factor IX preproprotein		Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	138643870		0.433	ENSG00000101981	5264	g.chrX:138643870G>A	blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity							359.007759	KEEP	62	80	-1	109	132	62	80	-1	364.17475	109	132	0.367953	1	0	0	0	0	0	0	1	0	--	--		0	A			F9_uc004fat.1_Silent_p.T304T	168	GBM-19-4068-TP	p.T342T	G	AGGAATACACGAACATCTTCC	NM_000133	NP_000124	138643870	P00740	FA9_HUMAN	0			8	1055	+	A	A	Acute lymphoblastic leukemia(192;0.000127)		Silent	342		T -> K (in HEMB; mild).|T -> M (in HEMB; moderate).	Peptidase S1.			
F9	0	broad.mit.edu	GRCh37	X	138643011	138643011	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs137852247		TCGA-87-5896-01	TCGA-87-5896-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000218099.2:c.835G>A	p.Ala279Thr	p.A279T	ENST00000218099	NM_000133.3	279	Gca/Aca	0			1			A	A/T	uc004fas.1	protein_coding	YES	CCDS14666.1			835/1386									lung(2)|ovary(1)	3	c.(835-837)GCA>ACA			Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF001143,PROSITE_profiles:PS50240,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF23,SMART_domains:SM00020,Superfamily_domains:SSF50494	coagulation factor IX preproprotein	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)			ENSP00000218099		8-Jul									rs137852247,COSM1115965	8-Jul	.		ENST00000218099	Transcript	1		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	ENSG00000101981	g.chrX:138643011G>A	3551			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=FA9_HUMAN&rb=227&re=454&var=A279T	getma.org/pdb.php?prot=FA9_HUMAN&from=227&to=454&var=A279T	getma.org/?cm=var&var=hg19,X,138643011,G,A&fts=all	A279T	--	--	1																																		F9_uc004fat.1_Missense_Mutation_p.A241T	0,1	1		possibly_damaging(0.77)	p.A279T	NM_000133	NP_000124		tolerated(0.06)	0,1	FA9_HUMAN	F9	HGNC	P00740	FA9_HUMAN			Q86XR9_HUMAN,Q19UL6_HUMAN,Q19UK7_HUMAN,Q19UK5_HUMAN,Q19UK4_HUMAN,Q19UK3_HUMAN,Q19UI2_HUMAN,Q19UH6_HUMAN,Q19UG6_HUMAN		7	864	+	Acute lymphoblastic leukemia(192;0.000127)		UPI000002BA13	279		A -> T (in HEMB; mild).	Peptidase S1.		SNV	F9,missense_variant,p.Ala279Thr,ENST00000218099,NM_000133.3;F9,missense_variant,p.Ala241Thr,ENST00000394090,;	uc004fas.1	c.835G>A	842/2780	2	2			c.835G>A						23	SNP	c.(835-837)GCA>ACA	44	44			lung(2)|ovary(1)	3	Broad	coagulation factor IX preproprotein		Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	138643011		0.353	ENSG00000101981	5264	g.chrX:138643011G>A	blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity							172.665174	KEEP	32	28	-1	26	38	32	28	-1	172.694875	26	38	0.483051	1	0	0	0	0	1	0	0	0	--	--		0	A			F9_uc004fat.1_Missense_Mutation_p.A241T	291	GBM-87-5896-TP	p.A279T	G	TACAGTTGTCGCAGGTAAATA	NM_000133	NP_000124	138643011	P00740	FA9_HUMAN	0			7	864	+	A	A	Acute lymphoblastic leukemia(192;0.000127)		Missense_Mutation	279		A -> T (in HEMB; mild).	Peptidase S1.			
FA2H	79152	broad.mit.edu	GRCh37	16	74748141	74748141	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0876-01	TCGA-06-0876-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000219368.3:c.1066del	p.Asp356IlefsTer14	p.D356Ifs*14	ENST00000219368	NM_024306.4	356	Gat/at	0			1			-	D/X	uc002fde.1	protein_coding	YES	CCDS10911.1			1066/1119										0	c.(1066-1068)GATfs			hmmpanther:PTHR12863,PIRSF_domain:PIRSF005149	fatty acid 2-hydroxylase				ENSP00000219368		7-Jul										7-Jul	.		ENST00000219368	Transcript	1		cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity	ENSG00000103089	g.chr16:74748141delC	21197			HIGH								--	--	1																																		FA2H_uc002fdd.1_Frame_Shift_Del_p.D129fs|FA2H_uc010vmy.1_RNA		1			p.D356fs	NM_024306	NP_077282				FA2H_HUMAN	FA2H	HGNC	Q7L5A8	FA2H_HUMAN			B7Z8T6_HUMAN		7	1134	-			UPI000013C77C	356	D -> G (in Ref. 1; BAB71632).				deletion	FA2H,frameshift_variant,p.Asp356IlefsTer14,ENST00000219368,NM_024306.4;FA2H,frameshift_variant,p.Asp143IlefsTer14,ENST00000544337,;FA2H,downstream_gene_variant,,ENST00000569949,;FA2H,3_prime_UTR_variant,,ENST00000567683,;FA2H,non_coding_transcript_exon_variant,,ENST00000562145,;	uc002fde.1	c.1066delG	1136/2424	5	5			c.1066delG						16	DEL	c.(1066-1068)GATfs	5	5				0	Broad	fatty acid 2-hydroxylase			74748141		0.582	ENSG00000103089	5265	g.chr16:74748141delC	cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity																				0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			FA2H_uc002fdd.1_Frame_Shift_Del_p.D129fs|FA2H_uc010vmy.1_RNA	72	GBM-06-0876-TP	p.D356fs	C	AAACAGTAATCCCACAATTTA	NM_024306	NP_077282	74748141	Q7L5A8	FA2H_HUMAN	0			7	1134	-	-	-			Frame_Shift_Del	356	D -> G (in Ref. 1; BAB71632).					
FA2H	0	broad.mit.edu	GRCh37	16	74750318	74750318	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-2573-01	TCGA-41-2573-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000219368.3:c.966G>A	p.Ser322=	p.S322=	ENST00000219368	NM_024306.4	322	tcG/tcA	0			1			T	S	uc002fde.1	protein_coding	YES	CCDS10911.1			966/1119										0	c.(964-966)TCG>TCA			hmmpanther:PTHR12863,Pfam_domain:PF04116,PIRSF_domain:PIRSF005149	fatty acid 2-hydroxylase				ENSP00000219368		7-Jun	6.59E-05			0.000809		1.50E-05			rs766614299,COSM3402477	7-Jun	common_variant		ENST00000219368	Transcript	1		cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity	ENSG00000103089	g.chr16:74750318C>T	21197			LOW								--	--	1																																		FA2H_uc002fdd.1_Silent_p.S95S|FA2H_uc010vmy.1_RNA	0,1	1			p.S322S	NM_024306	NP_077282			0,1	FA2H_HUMAN	FA2H	HGNC	Q7L5A8	FA2H_HUMAN			B7Z8T6_HUMAN		6	1034	-			UPI000013C77C	322					SNV	FA2H,synonymous_variant,p.=,ENST00000219368,NM_024306.4;FA2H,synonymous_variant,p.=,ENST00000544337,;FA2H,downstream_gene_variant,,ENST00000569949,;FA2H,3_prime_UTR_variant,,ENST00000567683,;FA2H,non_coding_transcript_exon_variant,,ENST00000562145,;	uc002fde.1	c.966G>A	1036/2424	1	1			c.966G>A						16	SNP	c.(964-966)TCG>TCA	7	7				0	Broad	fatty acid 2-hydroxylase			74750318		0.602	ENSG00000103089	5265	g.chr16:74750318C>T	cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity							9.906172	KEEP	4	4	-1	18	45	4	4	-1	19.142139	18	45	0.121212	1	0	0	0	0	0	0	1	0	--	--		0	T			FA2H_uc002fdd.1_Silent_p.S95S|FA2H_uc010vmy.1_RNA	252	GBM-41-2573-TP	p.S322S	C	CCTTGTGCGGCGAGCCAAAGT	NM_024306	NP_077282	74750318	Q7L5A8	FA2H_HUMAN	0			6	1034	-	T	T			Silent	322						
FAAH	0	broad.mit.edu	GRCh37	1	46871972	46871972	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-27-2521-01	TCGA-27-2521-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000243167.8:c.883C>T	p.Arg295Ter	p.R295*	ENST00000243167	NM_001441.2	295	Cga/Tga	0			1			T	R/*	uc001cpu.2	protein_coding	YES	CCDS535.1			883/1740									ovary(1)|breast(1)	2	c.(883-885)CGA>TGA			hmmpanther:PTHR11895,hmmpanther:PTHR11895:SF51,Gene3D:3.90.1300.10,Pfam_domain:PF01425,PIRSF_domain:PIRSF001221,Superfamily_domains:SSF75304	fatty acid amide hydrolase	Propofol(DB00818)|Thiopental(DB00599)			ENSP00000243167		15-Jul									COSM3400845	15-Jul	.		ENST00000243167	Transcript			fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity	ENSG00000117480	g.chr1:46871972C>T	3553			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,46871972,C,T&fts=all	R295*	--	--	1																																OREG0013458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	FAAH_uc001cpv.2_Intron	1	1			p.R295*	NM_001441	NP_001432			1	FAAH1_HUMAN	FAAH	HGNC	O00519	FAAH1_HUMAN					7	965	+	Acute lymphoblastic leukemia(166;0.155)		UPI000013C9E7	295			Cytoplasmic (By similarity).		SNV	FAAH,stop_gained,p.Arg295Ter,ENST00000243167,NM_001441.2;FAAH,non_coding_transcript_exon_variant,,ENST00000493735,;FAAH,non_coding_transcript_exon_variant,,ENST00000489366,;FAAH,intron_variant,,ENST00000484697,;FAAH,downstream_gene_variant,,ENST00000468718,;FAAH,upstream_gene_variant,,ENST00000493636,;	uc001cpu.2	c.883C>T	967/2094	5	1			c.883C>T						1	SNP	c.(883-885)CGA>TGA	5	5			ovary(1)|breast(1)	2	Broad	fatty acid amide hydrolase		Propofol(DB00818)|Thiopental(DB00599)	46871972		0.642	ENSG00000117480	5266	g.chr1:46871972C>T	fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity							5.00691	KEEP	4	5	-1	38	57	4	5	-1	20.928532	38	57	0.09375	1	0	0	0	0	0	1	0	0	--	--		0	T	OREG0013458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	FAAH_uc001cpv.2_Intron	200	GBM-27-2521-TP	p.R295*	C	ACTGTGCCTGCGAGCCCTGCT	NM_001441	NP_001432	46871972	O00519	FAAH1_HUMAN	0			7	965	+	T	T	Acute lymphoblastic leukemia(166;0.155)		Nonsense_Mutation	295			Cytoplasmic (By similarity).			
FABP6	0	broad.mit.edu	GRCh37	5	159656578	159656578	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01	TCGA-32-2495-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000402432.3:c.14G>A	p.Gly5Asp	p.G5D	ENST00000402432	NM_001445.2	5	gGc/gAc	0			1			A	G/D	uc003lya.1	protein_coding		CCDS4349.1			14/387										0	c.(13-15)GGC>GAC			Gene3D:2.40.128.20,Pfam_domain:PF14651,Prints_domain:PR00178,PROSITE_patterns:PS00214,hmmpanther:PTHR11955,hmmpanther:PTHR11955:SF69,Superfamily_domains:SSF50814	gastrotropin isoform 2				ENSP00000385433		4-Jan									COSM482447,COSM482446	4-Jan	.		ENST00000402432	Transcript			bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity	ENSG00000170231	g.chr5:159656578G>A	3561			MODERATE		2.85	medium	getma.org/?cm=msa&ty=f&p=FABP6_HUMAN&rb=1&re=126&var=G5D	getma.org/pdb.php?prot=FABP6_HUMAN&from=1&to=126&var=G5D	getma.org/?cm=var&var=hg19,5,159656578,G,A&fts=all	G5D	--	--	1																																		FABP6_uc003lxx.1_Missense_Mutation_p.G54D|FABP6_uc003lxz.1_Missense_Mutation_p.G54D	1,1			probably_damaging(0.999)	p.G5D	NM_001445	NP_001436		deleterious(0)	1,1	FABP6_HUMAN	FABP6	HGNC	P51161	FABP6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Q8IUB1_HUMAN		1	142	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	UPI000013F054	5					SNV	FABP6,missense_variant,p.Gly54Asp,ENST00000393980,NM_001130958.1;FABP6,missense_variant,p.Gly54Asp,ENST00000393982,NM_001040442.1;FABP6,missense_variant,p.Gly5Asp,ENST00000402432,NM_001445.2;FABP6,3_prime_UTR_variant,,ENST00000523955,;FABP6,upstream_gene_variant,,ENST00000521362,;	uc003lya.1	c.14G>A	142/572	2	2			c.14G>A						5	SNP	c.(13-15)GGC>GAC	43	43				0	Broad	gastrotropin isoform 2			159656578		0.537	ENSG00000170231	5274	g.chr5:159656578G>A	bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity	Colon(29;562 677 12756 16385 20992)			Colon(29;562 677 12756 16385 20992)			-108.278499	KEEP	5	6	-1	271	278	5	6	-1	11.762864	271	278	0.017505	1	0	0	0	0	1	0	0	0	--	--		0	A			FABP6_uc003lxx.1_Missense_Mutation_p.G54D|FABP6_uc003lxz.1_Missense_Mutation_p.G54D	237	GBM-32-2495-TP	p.G5D	G	GCTTTCACCGGCAAGTTCGAG	NM_001445	NP_001436	159656578	P51161	FABP6_HUMAN	0	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	142	+	A	A	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Missense_Mutation	5						
FADS2	9415		GRCh37	11	61615699	61615699	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000278840.4:c.687G>A	p.Lys229=	p.K229=	ENST00000278840	NM_004265.3	229	aaG/aaA	0																																																																																																																																																																																																																																												
FADS3	3995	broad.mit.edu	GRCh37	11	61646097	61646097	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-2558-01	TCGA-06-2558-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278829.2:c.634G>C	p.Ala212Pro	p.A212P	ENST00000278829	NM_021727.3	212	Gcc/Ccc	0			1			G	A/P	uc001nsm.2	protein_coding	YES	CCDS8013.1			634/1338									ovary(1)|pancreas(1)	2	c.(634-636)GCC>CCC			Pfam_domain:PF00487,PIRSF_domain:PIRSF015921,hmmpanther:PTHR19353,hmmpanther:PTHR19353:SF11	fatty acid desaturase 3				ENSP00000278829		12-May									COSM2152573,COSM3747891	12-May	.		ENST00000278829	Transcript			electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water	ENSG00000221968	g.chr11:61646097C>G	3576			MODERATE		2.43	medium	getma.org/?cm=msa&ty=f&p=FADS3_HUMAN&rb=157&re=419&var=A212P	NA	getma.org/?cm=var&var=hg19,11,61646097,C,G&fts=all	A212P	--	--	1																																		FADS3_uc001nsn.2_Missense_Mutation_p.A88P	1,1	1		probably_damaging(0.988)	p.A212P	NM_021727	NP_068373		tolerated(0.09)	1,1	FADS3_HUMAN	FADS3	HGNC	Q9Y5Q0	FADS3_HUMAN			E9PQC2_HUMAN,E9PPZ4_HUMAN		5	787	-			UPI000003405F	212			Cytoplasmic (Potential).		SNV	FADS3,missense_variant,p.Ala212Pro,ENST00000540820,;FADS3,missense_variant,p.Ala212Pro,ENST00000278829,NM_021727.3;FADS3,missense_variant,p.Ala88Pro,ENST00000527697,;FADS3,missense_variant,p.Ala184Pro,ENST00000525588,;FADS3,missense_variant,p.Ala88Pro,ENST00000531956,;FADS3,missense_variant,p.Ala88Pro,ENST00000534223,;FADS3,upstream_gene_variant,,ENST00000527379,;FADS3,upstream_gene_variant,,ENST00000525094,;FADS3,non_coding_transcript_exon_variant,,ENST00000533676,;FADS3,non_coding_transcript_exon_variant,,ENST00000529404,;FADS3,non_coding_transcript_exon_variant,,ENST00000414624,;FADS3,non_coding_transcript_exon_variant,,ENST00000526294,;FADS3,downstream_gene_variant,,ENST00000534426,;	uc001nsm.2	c.634G>C	787/1779	3	3			c.634G>C						11	SNP	c.(634-636)GCC>CCC	9	9			ovary(1)|pancreas(1)	2	Broad	fatty acid desaturase 3			61646097		0.667	ENSG00000221968	5280	g.chr11:61646097C>G	electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water							92.714092	KEEP	13	17	-1	24	24	13	17	-1	93.570351	24	24	0.383562	1	0	0	0	0	1	0	0	0	--	--		0	G			FADS3_uc001nsn.2_Missense_Mutation_p.A88P	82	GBM-06-2558-TP	p.A212P	C	CACCAGTGGGCGGAGAAGCCC	NM_021727	NP_068373	61646097	Q9Y5Q0	FADS3_HUMAN	0			5	787	-	G	G			Missense_Mutation	212			Cytoplasmic (Potential).			
FADS6	283985	broad.mit.edu	GRCh37	17	72875610	72875610	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-2569-01	TCGA-06-2569-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310226.6:c.830C>G	p.Ala277Gly	p.A277G	ENST00000310226	NM_178128.3	277	gCg/gGg	0			1			C	A/G	uc002jmd.1	protein_coding	YES	CCDS54163.1			830/1053										0	c.(829-831)GCG>GGG			Pfam_domain:PF00487,hmmpanther:PTHR19353,hmmpanther:PTHR19353:SF13	fatty acid desaturase domain family, member 6				ENSP00000307821		6-May									COSM3403201,COSM3403200	6-May	.		ENST00000310226	Transcript			fatty acid biosynthetic process	integral to membrane	oxidoreductase activity	ENSG00000172782	g.chr17:72875610G>C	30459			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=FADS6_HUMAN&rb=77&re=328&var=A283G	NA	getma.org/?cm=var&var=hg19,17,72875610,G,C&fts=all	A283G	--	--	1																																		FADS6_uc010wrn.1_Missense_Mutation_p.A131G	1,1	1		benign(0.067)	p.A277G	NM_178128	NP_835229		tolerated(0.16)	1,1	FADS6_HUMAN	FADS6	HGNC	Q8N9I5	FADS6_HUMAN					5	842	-	all_lung(278;0.172)|Lung NSC(278;0.207)		UPI00001A95BE	283			Helical; (Potential).		SNV	FADS6,missense_variant,p.Ala277Gly,ENST00000310226,NM_178128.3;FADS6,missense_variant,p.Ala156Gly,ENST00000579663,;FADS6,non_coding_transcript_exon_variant,,ENST00000413142,;	uc002jmd.1	c.830C>G	845/2100	4	4			c.830C>G						17	SNP	c.(829-831)GCG>GGG	47	47				0	Broad	fatty acid desaturase domain family, member 6			72875610		0.612	ENSG00000172782	5281	g.chr17:72875610G>C	fatty acid biosynthetic process	integral to membrane	oxidoreductase activity							22.15498	KEEP	5	4	-1	24	27	5	4	-1	27.612405	24	27	0.169811	1	0	0	0	0	1	0	0	0	--	--		0	C			FADS6_uc010wrn.1_Missense_Mutation_p.A131G	90	GBM-06-2569-TP	p.A277G	G	GTGGCCGAACGCCCAGTCCAG	NM_178128	NP_835229	72875610	Q8N9I5	FADS6_HUMAN	0			5	842	-	C	C	all_lung(278;0.172)|Lung NSC(278;0.207)		Missense_Mutation	283			Helical; (Potential).			
FADS6	283985		GRCh37	17	72878745	72878745	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000310226.6:c.453G>A	p.Thr151=	p.T151=	ENST00000310226	NM_178128.3	151	acG/acA	0																																																																																																																																																																																																																																												
FAF1	0	broad.mit.edu	GRCh37	1	51001131	51001131	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C			TCGA-32-2615-01	TCGA-32-2615-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396153.2:c.1406-2A>G		p.X469_splice	ENST00000396153	NM_007051.2			0			1			C		uc009vyx.1	protein_coding	YES	CCDS554.1			1406/1953									ovary(1)|pancreas(1)	2	c.e16-1				FAS-associated factor 1				ENSP00000379457											COSM3400863		.		ENST00000396153	Transcript			apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	ENSG00000185104	g.chr1:51001131T>C	3578			HIGH	14/18							--	--	1																																		FAF1_uc009vyw.1_Splice_Site|FAF1_uc001cse.1_Splice_Site_p.G469_splice|FAF1_uc010onc.1_Splice_Site_p.G227_splice	1	1			p.G469_splice	NM_007051	NP_008982			1	FAF1_HUMAN	FAF1	HGNC	Q9UNN5	FAF1_HUMAN		GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)			16	1469	-			UPI0000032C67						SNV	FAF1,splice_acceptor_variant,,ENST00000396153,NM_007051.2;FAF1,splice_acceptor_variant,,ENST00000371778,;FAF1,splice_acceptor_variant,,ENST00000545823,;FAF1,downstream_gene_variant,,ENST00000472808,;FAF1,splice_acceptor_variant,,ENST00000494400,;	uc009vyx.1	c.1406_splice	-/4367	5	4			c.1406_splice						1	SNP	c.e16-1	34	34			ovary(1)|pancreas(1)	2	Broad	FAS-associated factor 1			51001131		0.323	ENSG00000185104	5282	g.chr1:51001131T>C	apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity							-33.306581	KEEP	2	1	-1	83	80	2	1	-1	6.322765	83	80	0.019608	1	0	0	0	0	0	0	0	1	--	--		0	C			FAF1_uc009vyw.1_Splice_Site|FAF1_uc001cse.1_Splice_Site_p.G469_splice|FAF1_uc010onc.1_Splice_Site_p.G227_splice	239	GBM-32-2615-TP	p.G469_splice	T	TTGTGTTCCCTAAAAACATAT	NM_007051	NP_008982	51001131	Q9UNN5	FAF1_HUMAN	0		GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)	16	1469	-	C	C			Splice_Site							
EEIG1	0	broad.mit.edu	GRCh37	9	130710434	130710434	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01	TCGA-27-1836-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373095.1:c.532G>A	p.Gly178Ser	p.G178S	ENST00000373095	NM_001035254.2	178	Ggt/Agt	0			1			T	G/S	uc004bsx.1	protein_coding	YES	CCDS35150.1			532/1155									ovary(1)	1	c.(532-534)GGT>AGT			Low_complexity_(Seg):seg,hmmpanther:PTHR21456,hmmpanther:PTHR21456:SF2	early estrogen-induced gene 1 protein isoform a				ENSP00000362187		11-Jun									COSM3413357	11-Jun	.		ENST00000373095	Transcript						ENSG00000167106	g.chr9:130710434C>T	31419			MODERATE		1.545	low	getma.org/?cm=msa&ty=f&p=F102A_HUMAN&rb=153&re=352&var=G178S	NA	getma.org/?cm=var&var=hg19,9,130710434,C,T&fts=all	G178S	--	--	1																																		FAM102A_uc004bsw.1_Missense_Mutation_p.G36S|FAM102A_uc004bsy.1_5'UTR	1	1		benign(0.05)	p.G178S	NM_001035254	NP_001030331		tolerated(0.1)	1	F102A_HUMAN	FAM102A	HGNC	Q5T9C2	F102A_HUMAN					6	611	-			UPI00005D3C96	178			Ser-rich.		SNV	FAM102A,missense_variant,p.Gly178Ser,ENST00000373095,NM_001035254.2;FAM102A,missense_variant,p.Gly36Ser,ENST00000373084,NM_203305.2;FAM102A,intron_variant,,ENST00000300434,;FAM102A,downstream_gene_variant,,ENST00000479828,;FAM102A,non_coding_transcript_exon_variant,,ENST00000465821,;	uc004bsx.1	c.532G>A	908/4144	2	2			c.532G>A						9	SNP	c.(532-534)GGT>AGT	31	31			ovary(1)	1	Broad	early estrogen-induced gene 1 protein isoform a			130710434		0.612	ENSG00000167106	5295	g.chr9:130710434C>T										67.051254	KEEP	17	9	-1	32	28	17	9	-1	69.281677	32	28	0.320513	1	0	0	0	0	1	0	0	0	--	--		0	T			FAM102A_uc004bsw.1_Missense_Mutation_p.G36S|FAM102A_uc004bsy.1_5'UTR	195	GBM-27-1836-TP	p.G178S	C	CTGGTCCCACCACCCTTACAC	NM_001035254	NP_001030331	130710434	Q5T9C2	F102A_HUMAN	0			6	611	-	T	T			Missense_Mutation	178			Ser-rich.			
EEIG1	0	broad.mit.edu	GRCh37	9	130710496	130710496	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4927-01	TCGA-76-4927-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373095.1:c.470C>T	p.Ser157Leu	p.S157L	ENST00000373095	NM_001035254.2	157	tCg/tTg	0			1			A	S/L	uc004bsx.1	protein_coding	YES	CCDS35150.1			470/1155									ovary(1)	1	c.(469-471)TCG>TTG			hmmpanther:PTHR21456,hmmpanther:PTHR21456:SF2	early estrogen-induced gene 1 protein isoform a				ENSP00000362187		11-Jun									COSM3413358	11-Jun	.		ENST00000373095	Transcript						ENSG00000167106	g.chr9:130710496G>A	31419			MODERATE		2.365	medium	getma.org/?cm=msa&ty=f&p=F102A_HUMAN&rb=153&re=352&var=S157L	NA	getma.org/?cm=var&var=hg19,9,130710496,G,A&fts=all	S157L			1																																		FAM102A_uc004bsw.1_Missense_Mutation_p.S15L|FAM102A_uc004bsy.1_5'UTR	1	1		benign(0.382)	p.S157L	NM_001035254	NP_001030331		deleterious(0.04)	1	F102A_HUMAN	FAM102A	HGNC	Q5T9C2	F102A_HUMAN					6	549	-			UPI00005D3C96	157			Ser-rich.		SNV	FAM102A,missense_variant,p.Ser157Leu,ENST00000373095,NM_001035254.2;FAM102A,missense_variant,p.Ser15Leu,ENST00000373084,NM_203305.2;FAM102A,non_coding_transcript_exon_variant,,ENST00000479828,;FAM102A,intron_variant,,ENST00000300434,;FAM102A,upstream_gene_variant,,ENST00000465821,;	uc004bsx.1	c.470C>T	846/4144	2	2			c.470C>T						9	SNP	c.(469-471)TCG>TTG	47	47			ovary(1)	1	Broad	early estrogen-induced gene 1 protein isoform a			130710496		0.602	ENSG00000167106	5295	g.chr9:130710496G>A										-21.137047	KEEP	4	6	-1	105	92	4	6	-1	14.909311	105	92	0.048193	1	0	0	0	0	1	0	0	0				0	A			FAM102A_uc004bsw.1_Missense_Mutation_p.S15L|FAM102A_uc004bsy.1_5'UTR	267	GBM-76-4927-TP	p.S157L	G	CTTGGCAGTCGATGGTGGCCT	NM_001035254	NP_001030331	130710496	Q5T9C2	F102A_HUMAN	0			6	549	-	A	A			Missense_Mutation	157			Ser-rich.			
FAM102B	284611		GRCh37	1	109167309	109167309	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000370035.3:c.495T>C	p.Ser165=	p.S165=	ENST00000370035	NM_001010883.2	165	tcT/tcC	0																																																																																																																																																																																																																																												
FAM107B	0	broad.mit.edu	GRCh37	10	14816316	14816316	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000181796.2:c.347C>T	p.Ala116Val	p.A116V	ENST00000181796	NM_031453.2	116	gCg/gTg	0			1			A	A/V	uc001ina.1	protein_coding	YES	CCDS7102.1			347/921									breast(4)	4	c.(346-348)GCG>GTG			hmmpanther:PTHR16768,hmmpanther:PTHR16768:SF1	hypothetical protein LOC83641				ENSP00000181796		5-Jan	1.65E-05					1.50E-05		6.09E-05	rs763943353,COSM1347005	5-Jan	.		ENST00000181796	Transcript						ENSG00000065809	g.chr10:14816316G>A	23726			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=F8WDH7_HUMAN&rb=1&re=160&var=A116V	NA	getma.org/?cm=var&var=hg19,10,14816316,G,A&fts=all	A116V	--	--	1																																		FAM107B_uc010qbu.1_RNA	0,1	1		benign(0.011)	p.A116V	NM_031453	NP_113641		tolerated_low_confidence(0.28)	0,1	F107B_HUMAN	FAM107B	HGNC	Q9H098	F107B_HUMAN			C9JYP1_HUMAN,C9JW51_HUMAN,C9JQ40_HUMAN,C9JP05_HUMAN,C9J6Y8_HUMAN,C9J6N5_HUMAN,C9J3Q3_HUMAN		1	581	-			UPI00001C0E1E	Error:Variant_position_missing_in_Q9H098_after_alignment					SNV	FAM107B,missense_variant,p.Ala116Val,ENST00000181796,NM_031453.2;FAM107B,missense_variant,p.Ala116Val,ENST00000487335,;	uc001ina.1	c.347C>T	581/3785	2	2			c.347C>T						10	SNP	c.(346-348)GCG>GTG	34	34			breast(4)	4	Broad	hypothetical protein LOC83641			14816316		0.572	ENSG00000065809	5303	g.chr10:14816316G>A										-26.808774	KEEP	3	2	-1	73	75	3	2	-1	7.143707	73	75	0.028777	1	0	0	0	0	1	0	0	0	--	--		0	A			FAM107B_uc010qbu.1_RNA	139	GBM-14-0817-TP	p.A116V	G	TTCACAGTCCGCCCCATCATC	NM_031453	NP_113641	14816316	Q9H098	F107B_HUMAN	0			1	581	-	A	A			Missense_Mutation	Error:Variant_position_missing_in_Q9H098_after_alignment						
FAM107B	0	broad.mit.edu	GRCh37	10	14564008	14564008	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-27-1834-01	TCGA-27-1834-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378458.2:c.139C>G	p.Pro47Ala	p.P47A	ENST00000378458		47	Cct/Gct	0			1			C	P/A	uc001imx.1	protein_coding		CCDS60486.1			139/396									breast(4)	4	c.(139-141)CCT>GCT			Pfam_domain:PF06625,hmmpanther:PTHR16768,hmmpanther:PTHR16768:SF1	hypothetical protein LOC83641				ENSP00000367719		5-Apr									COSM3397016	5-Apr	.		ENST00000378458	Transcript						ENSG00000065809	g.chr10:14564008G>C	23726			MODERATE		1.78	low	getma.org/?cm=msa&ty=f&p=F107B_HUMAN&rb=1&re=120&var=P47A	NA	getma.org/?cm=var&var=hg19,10,14564008,G,C&fts=all	P47A	--	--	1																																		FAM107B_uc001ina.1_Missense_Mutation_p.P222A|FAM107B_uc010qbu.1_RNA|FAM107B_uc009xjg.1_Missense_Mutation_p.P47A|FAM107B_uc001imy.1_Missense_Mutation_p.P47A|FAM107B_uc001imz.1_Missense_Mutation_p.P47A	1			probably_damaging(0.953)	p.P47A	NM_031453	NP_113641		tolerated(0.07)	1	F107B_HUMAN	FAM107B	HGNC	Q9H098	F107B_HUMAN			C9JYP1_HUMAN,C9JW51_HUMAN,C9JQ40_HUMAN,C9JP05_HUMAN,C9J6Y8_HUMAN,C9J6N5_HUMAN,C9J3Q3_HUMAN		3	384	-			UPI00000373D5	47					SNV	FAM107B,missense_variant,p.Pro222Ala,ENST00000181796,NM_031453.2;FAM107B,missense_variant,p.Pro47Ala,ENST00000378470,NM_001282703.1,NM_001282702.1,NM_001282701.1,NM_001282700.1,NM_001282698.1,NM_001282697.1,NM_001282696.1,NM_001282695.1;FAM107B,missense_variant,p.Pro47Ala,ENST00000468747,;FAM107B,missense_variant,p.Pro47Ala,ENST00000378467,;FAM107B,missense_variant,p.Pro47Ala,ENST00000378458,;FAM107B,missense_variant,p.Pro47Ala,ENST00000378465,;FAM107B,missense_variant,p.Pro47Ala,ENST00000452706,;FAM107B,missense_variant,p.Pro47Ala,ENST00000478076,;FAM107B,missense_variant,p.Pro47Ala,ENST00000496330,;FAM107B,missense_variant,p.Pro47Ala,ENST00000378462,;FAM107B,missense_variant,p.Pro47Ala,ENST00000468492,;FAM107B,missense_variant,p.Pro47Ala,ENST00000475786,;FAM107B,missense_variant,p.Pro47Ala,ENST00000479731,;FAM107B,missense_variant,p.Pro47Ala,ENST00000494865,;FAM107B,missense_variant,p.Pro47Ala,ENST00000489100,;FAM107B,missense_variant,p.Pro47Ala,ENST00000488576,;FAM107B,missense_variant,p.Pro47Ala,ENST00000482277,;FAM107B,missense_variant,p.Pro47Ala,ENST00000472095,;FAM107B,missense_variant,p.Pro47Ala,ENST00000442012,;FAM107B,3_prime_UTR_variant,,ENST00000487335,;FAM107B,3_prime_UTR_variant,,ENST00000481209,;FAM107B,non_coding_transcript_exon_variant,,ENST00000475858,;FAM107B,non_coding_transcript_exon_variant,,ENST00000492700,;FAM107B,non_coding_transcript_exon_variant,,ENST00000474143,;	uc001imx.1	c.139C>G	688/1284	3	3			c.139C>G						10	SNP	c.(139-141)CCT>GCT	6	6			breast(4)	4	Broad	hypothetical protein LOC83641			14564008		0.358	ENSG00000065809	5303	g.chr10:14564008G>C										182.739642	KEEP	28	21	-1	21	19	28	21	-1	183.122801	21	19	0.573171	1	0	0	0	0	1	0	0	0	--	--		0	C			FAM107B_uc001ina.1_Missense_Mutation_p.P222A|FAM107B_uc010qbu.1_RNA|FAM107B_uc009xjg.1_Missense_Mutation_p.P47A|FAM107B_uc001imy.1_Missense_Mutation_p.P47A|FAM107B_uc001imz.1_Missense_Mutation_p.P47A	193	GBM-27-1834-TP	p.P47A	G	TTGTTCTGAGGAGCAAGACCC	NM_031453	NP_113641	14564008	Q9H098	F107B_HUMAN	0			3	384	-	C	C			Missense_Mutation	47						
FAM110B	0	broad.mit.edu	GRCh37	8	59058884	59058884	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-19-2629-01	TCGA-19-2629-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361488.3:c.95A>T	p.Lys32Met	p.K32M	ENST00000361488	NM_147189.2	32	aAg/aTg	0			1			T	K/M	uc003xtj.1	protein_coding	YES	CCDS6170.1			95/1113									large_intestine(1)	1	c.(94-96)AAG>ATG			Pfam_domain:PF14161,hmmpanther:PTHR14758,hmmpanther:PTHR14758:SF2	hypothetical protein LOC90362				ENSP00000355204		5-May									COSM3413075	5-May	.		ENST00000361488	Transcript				microtubule organizing center|mitochondrion|nucleus		ENSG00000169122	g.chr8:59058884A>T	28587			MODERATE		2.19	medium	getma.org/?cm=msa&ty=f&p=F110B_HUMAN&rb=11&re=118&var=K32M	NA	getma.org/?cm=var&var=hg19,8,59058884,A,T&fts=all	K32M	--	--	1																																			1	1		probably_damaging(0.998)	p.K32M	NM_147189	NP_671722		deleterious(0)	1	F110B_HUMAN	FAM110B	HGNC	Q8TC76	F110B_HUMAN					5	975	+		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)	UPI000006E853	32					SNV	FAM110B,missense_variant,p.Lys32Met,ENST00000361488,NM_147189.2;FAM110B,intron_variant,,ENST00000520369,;FAM110B,intron_variant,,ENST00000523486,;FAM110B,downstream_gene_variant,,ENST00000519262,;FAM110B,downstream_gene_variant,,ENST00000522059,;FAM110B,downstream_gene_variant,,ENST00000521413,;	uc003xtj.1	c.95A>T	975/3438	1	1			c.95A>T						8	SNP	c.(94-96)AAG>ATG	9	9			large_intestine(1)	1	Broad	hypothetical protein LOC90362			59058884		0.657	ENSG00000169122	5310	g.chr8:59058884A>T		microtubule organizing center|mitochondrion|nucleus								-0.034401	KEEP	2	2	-1	26	21	2	2	-1	8.433276	26	21	0.083333	1	0	0	0	0	1	0	0	0	--	--		0	T				166	GBM-19-2629-TP	p.K32M	A	ATCCTGAACAAGGGGCCAGAC	NM_147189	NP_671722	59058884	Q8TC76	F110B_HUMAN	0			5	975	+	T	T		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)	Missense_Mutation	32						
FAM110B	0	broad.mit.edu	GRCh37	8	59059474	59059474	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs139483735		TCGA-87-5896-01	TCGA-87-5896-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361488.3:c.685A>C	p.Lys229Gln	p.K229Q	ENST00000361488	NM_147189.2	229	Aaa/Caa	0			1			C	K/Q	uc003xtj.1	protein_coding	YES	CCDS6170.1			685/1113									large_intestine(1)	1	c.(685-687)AAA>CAA			hmmpanther:PTHR14758,hmmpanther:PTHR14758:SF2,Low_complexity_(Seg):seg	hypothetical protein LOC90362				ENSP00000355204		5-May									COSM3413076	5-May	.		ENST00000361488	Transcript				microtubule organizing center|mitochondrion|nucleus		ENSG00000169122	g.chr8:59059474A>C	28587			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=F110B_HUMAN&rb=119&re=250&var=K229Q	NA	getma.org/?cm=var&var=hg19,8,59059474,A,C&fts=all	K229Q	--	--	1																																			1	1		benign(0.016)	p.K229Q	NM_147189	NP_671722		tolerated(0.58)	1	F110B_HUMAN	FAM110B	HGNC	Q8TC76	F110B_HUMAN					5	1565	+		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)	UPI000006E853	229					SNV	FAM110B,missense_variant,p.Lys229Gln,ENST00000361488,NM_147189.2;FAM110B,intron_variant,,ENST00000520369,;FAM110B,intron_variant,,ENST00000523486,;FAM110B,downstream_gene_variant,,ENST00000519262,;FAM110B,downstream_gene_variant,,ENST00000522059,;FAM110B,downstream_gene_variant,,ENST00000521413,;	uc003xtj.1	c.685A>C	1565/3438	3	3			c.685A>C						8	SNP	c.(685-687)AAA>CAA	56	56			large_intestine(1)	1	Broad	hypothetical protein LOC90362			59059474		0.632	ENSG00000169122	5310	g.chr8:59059474A>C		microtubule organizing center|mitochondrion|nucleus								-14.454759	KEEP	2	2	-1	38	57	2	2	-1	7.491636	38	57	0.032609	1	0	0	0	0	1	0	0	0	--	--		0	C				291	GBM-87-5896-TP	p.K229Q	A	TCCCAAGCCCAAAATCGCAGC	NM_147189	NP_671722	59059474	Q8TC76	F110B_HUMAN	0			5	1565	+	C	C		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)	Missense_Mutation	229						
FAM111A	0	broad.mit.edu	GRCh37	11	58919918	58919918	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-19-5954-01	TCGA-19-5954-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361723.3:c.777A>G	p.Leu259=	p.L259=	ENST00000361723	NM_198847.2	259	ttA/ttG	0			1			G	L	uc010rkp.1	protein_coding		CCDS7973.1			777/1836									ovary(3)	3	c.(775-777)TTA>TTG			hmmpanther:PTHR14389,hmmpanther:PTHR14389:SF14	hypothetical protein LOC63901				ENSP00000355264		4-Apr	8.24E-06					1.52E-05			rs768304259,COSM2156742	4-Apr	.		ENST00000361723	Transcript	1		proteolysis		serine-type endopeptidase activity	ENSG00000166801	g.chr11:58919918A>G	24725			LOW								--	--	1																																		FAM111A_uc010rkq.1_Silent_p.L259L|FAM111A_uc010rkr.1_Silent_p.L259L|FAM111A_uc001nno.2_Silent_p.L259L|FAM111A_uc001nnp.2_Silent_p.L259L|FAM111A_uc001nnq.2_Silent_p.L259L	0,1				p.L259L	NM_001142521	NP_001135993			0,1	F111A_HUMAN	FAM111A	HGNC	Q96PZ2	F111A_HUMAN			E9PR18_HUMAN,E9PNQ0_HUMAN		5	1004	+		all_epithelial(135;0.139)	UPI00001FA7CB	259					SNV	FAM111A,synonymous_variant,p.=,ENST00000528737,;FAM111A,synonymous_variant,p.=,ENST00000533703,;FAM111A,synonymous_variant,p.=,ENST00000531147,;FAM111A,synonymous_variant,p.=,ENST00000420244,NM_001142520.1,NM_001142521.1,NM_001142519.1;FAM111A,synonymous_variant,p.=,ENST00000361723,NM_198847.2,NM_022074.3;FAM111A,downstream_gene_variant,,ENST00000527629,;FAM111A,downstream_gene_variant,,ENST00000531408,;FAM111A,downstream_gene_variant,,ENST00000532790,;FAM111A,downstream_gene_variant,,ENST00000529358,;	uc010rkp.1	c.777A>G	1001/3592	3	3			c.777A>G						11	SNP	c.(775-777)TTA>TTG	1	1			ovary(3)	3	Broad	hypothetical protein LOC63901			58919918		0.423	ENSG00000166801	5312	g.chr11:58919918A>G	proteolysis		serine-type endopeptidase activity							166.510376	KEEP	26	28	-1	35	34	26	28	-1	166.960037	35	34	0.431193	1	0	0	0	0	0	0	1	0	--	--		0	G			FAM111A_uc010rkq.1_Silent_p.L259L|FAM111A_uc010rkr.1_Silent_p.L259L|FAM111A_uc001nno.2_Silent_p.L259L|FAM111A_uc001nnp.2_Silent_p.L259L|FAM111A_uc001nnq.2_Silent_p.L259L	174	GBM-19-5954-TP	p.L259L	A	TTGATGAATTAGAAGGCAGAT	NM_001142521	NP_001135993	58919918	Q96PZ2	F111A_HUMAN	0			5	1004	+	G	G		all_epithelial(135;0.139)	Silent	259						
FAM115A	0	broad.mit.edu	GRCh37	7	143573699	143573699	+	start_lost	Translation_Start_Site	SNP	C	C	A			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000479870.1:c.3G>T	p.Met1?	p.M1?	ENST00000479870	NM_014719.2	1	atG/atT	0			1			A	M/I	uc003wdo.1	protein_coding	YES	CCDS5886.1			Mar-66										0	c.(1-3)ATG>ATT			hmmpanther:PTHR15730:SF1,hmmpanther:PTHR15730	hypothetical protein LOC9747				ENSP00000419235		9-Feb									COSM3411734	9-Feb	.		ENST00000479870	Transcript						ENSG00000198420	g.chr7:143573699C>A	22201			HIGH		0	NA	http://getma.org/?cm=msa&ty=f&p=F115A_HUMAN&rb=1&re=200&var=M1I	NA	getma.org/?cm=var&var=hg19,7,143573699,C,A&fts=all	M1I	--	--	1																																		FAM115A_uc011ktu.1_Intron|FAM115A_uc003wdp.1_Missense_Mutation_p.M1I	1	1		benign(0.027)	p.M1I	NM_014719	NP_055534		deleterious_low_confidence(0.02)	1	F115A_HUMAN	FAM115A	HGNC	Q9Y4C2	F115A_HUMAN			C9K0E7_HUMAN,C9JD13_HUMAN,C9J9F4_HUMAN,C9J648_HUMAN,B7Z246_HUMAN		2	136	-	Melanoma(164;0.0903)		UPI000013CEDB	1					SNV	FAM115A,start_lost,p.Met1?,ENST00000479870,NM_014719.2,NM_001206938.1,NM_001206941.1;FAM115A,start_lost,p.Met1?,ENST00000355951,;FAM115A,start_lost,p.Met1?,ENST00000460532,;FAM115A,start_lost,p.Met1?,ENST00000491908,;FAM115A,start_lost,p.Met1?,ENST00000485416,;FAM115A,start_lost,p.Met1?,ENST00000478172,;FAM115A,intron_variant,,ENST00000392900,;	uc003wdo.1	c.3G>T	212/5733	2	2			c.3G>T						7	SNP	c.(1-3)ATG>ATT	21	21				0	Broad	hypothetical protein LOC9747			143573699		0.473	ENSG00000198420	5318	g.chr7:143573699C>A										-20.008414	KEEP	4	0	-1	70	66	4	0	-1	7.078525	70	66	0.034783	1	0	0	0	0	1	0	0	0	--	--		0	A			FAM115A_uc011ktu.1_Intron|FAM115A_uc003wdp.1_Missense_Mutation_p.M1I	160	GBM-19-1790-TP	p.M1I	C	AGGGAGTCGCCATGGCTCTAT	NM_014719	NP_055534	143573699	Q9Y4C2	F115A_HUMAN	0			2	136	-	A	A	Melanoma(164;0.0903)		Missense_Mutation	1						
FAM117A	81558	broad.mit.edu	GRCh37	17	47788746	47788746	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0195-01	TCGA-06-0195-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000240364.2:c.1233G>A	p.Pro411=	p.P411=	ENST00000240364	NM_030802.3	411	ccG/ccA	0	T:0.0005		1			T	P	uc002ipk.2	protein_coding	YES	CCDS11553.1			1233/1362									ovary(1)	1	c.(1231-1233)CCG>CCA			hmmpanther:PTHR14972,hmmpanther:PTHR14972:SF7,Low_complexity_(Seg):seg	family with sequence similarity 117, member A			T:0	ENSP00000240364		8-Aug	6.59E-05	0.000691				1.53E-05			rs371670103,COSM3402985	8-Aug	common_variant		ENST00000240364	Transcript						ENSG00000121104	g.chr17:47788746C>T	24179			LOW								--	--	1																																		FAM117A_uc010wlz.1_Silent_p.P139P	0,1	1			p.P411P	NM_030802	NP_110429			0,1	F117A_HUMAN	FAM117A	HGNC	Q9C073	F117A_HUMAN			B7Z7Q3_HUMAN		8	1302	-			UPI00000503DC	411			Pro-rich.		SNV	FAM117A,synonymous_variant,p.=,ENST00000240364,NM_030802.3;FAM117A,synonymous_variant,p.=,ENST00000513602,;SLC35B1,upstream_gene_variant,,ENST00000240333,NM_005827.2,NM_001278784.1;SLC35B1,upstream_gene_variant,,ENST00000415270,;SLC35B1,upstream_gene_variant,,ENST00000503334,;SLC35B1,upstream_gene_variant,,ENST00000515850,;SLC35B1,upstream_gene_variant,,ENST00000508520,;FAM117A,downstream_gene_variant,,ENST00000511743,;SLC35B1,upstream_gene_variant,,ENST00000514907,;SLC35B1,upstream_gene_variant,,ENST00000511763,;SLC35B1,upstream_gene_variant,,ENST00000511657,;RP11-613C6.2,intron_variant,,ENST00000512720,;FAM117A,3_prime_UTR_variant,,ENST00000503573,;SLC35B1,upstream_gene_variant,,ENST00000504260,;SLC35B1,upstream_gene_variant,,ENST00000502406,;SLC35B1,upstream_gene_variant,,ENST00000507773,;SLC35B1,upstream_gene_variant,,ENST00000435059,;SLC35B1,upstream_gene_variant,,ENST00000509781,;SLC35B1,upstream_gene_variant,,ENST00000508607,;SLC35B1,upstream_gene_variant,,ENST00000502268,;SLC35B1,upstream_gene_variant,,ENST00000505765,;	uc002ipk.2	c.1233G>A	1313/2365	2	2			c.1233G>A						17	SNP	c.(1231-1233)CCG>CCA	47	47			ovary(1)	1	Broad	family with sequence similarity 117, member A			47788746		0.652	ENSG00000121104	5322	g.chr17:47788746C>T										61.82823	KEEP	11	14	-1	29	24	11	14	-1	63.577853	29	24	0.328358	1	0	0	0	0	0	0	1	0	--	--		0	T			FAM117A_uc010wlz.1_Silent_p.P139P	45	GBM-06-0195-TP	p.P411P	C	TGGGGCTGGCCGGGGGAAGGG	NM_030802	NP_110429	47788746	Q9C073	F117A_HUMAN	0			8	1302	-	T	T			Silent	411			Pro-rich.			
FAM118A	0	broad.mit.edu	GRCh37	22	45723798	45723798	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140683394		TCGA-41-2571-01	TCGA-41-2571-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216214.3:c.376C>T	p.Arg126Trp	p.R126W	ENST00000216214	NM_001104595.1	126	Cgg/Tgg	0	T:0.0002	T:0	1	T:0		T	R/W	uc003bfz.3	protein_coding	YES	CCDS14065.1			376/1074										0	c.(376-378)CGG>TGG				hypothetical protein LOC55007		T:0	T:0.0001	ENSP00000216214	T:0	10-May	0.000148	9.62E-05	0.000173			0.00018	0.0011	0.000121	rs140683394,COSM3063018	10-May	.		ENST00000216214	Transcript		T:0.0002		integral to membrane		ENSG00000100376	g.chr22:45723798C>T	1313			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=F118A_HUMAN&rb=1&re=141&var=R126W	NA	getma.org/?cm=var&var=hg19,22,45723798,C,T&fts=all	R126W	--	--	1																																		FAM118A_uc003bga.3_Missense_Mutation_p.R126W|uc011aqp.1_5'Flank|uc011aqq.1_5'Flank|FAM118A_uc011aqr.1_5'Flank	0,1	1		benign(0.339)	p.R126W	NM_001104595	NP_001098065	T:0.001	deleterious(0)	0,1	F118A_HUMAN	FAM118A	HGNC	Q9NWS6	F118A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	B4DY02_HUMAN,B0QY28_HUMAN		5	992	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	UPI000022B897	126					SNV	FAM118A,missense_variant,p.Arg126Trp,ENST00000216214,NM_001104595.1;FAM118A,missense_variant,p.Arg126Trp,ENST00000441876,NM_017911.2;FAM118A,missense_variant,p.Arg126Trp,ENST00000405673,;FAM118A,missense_variant,p.Arg126Trp,ENST00000427777,;FAM118A,upstream_gene_variant,,ENST00000405548,;FAM118A,upstream_gene_variant,,ENST00000459849,;FAM118A,upstream_gene_variant,,ENST00000476754,;FAM118A,upstream_gene_variant,,ENST00000476478,;FAM118A,non_coding_transcript_exon_variant,,ENST00000477714,;FAM118A,upstream_gene_variant,,ENST00000487732,;	uc003bfz.3	c.376C>T	1210/3458	2	2			c.376C>T						22	SNP	c.(376-378)CGG>TGG	21	21				0	Broad	hypothetical protein LOC55007			45723798		0.592	ENSG00000100376	5324	g.chr22:45723798C>T		integral to membrane			p.R126W(ISTMES1-Tumor)	952		p.R126W(ISTMES1-Tumor)	952	73.489756	KEEP	12	16	-1	25	15	12	16	-1	74.095141	25	15	0.393443	1	0	0	0	0	1	0	0	0	--	--		0	T			FAM118A_uc003bga.3_Missense_Mutation_p.R126W|uc011aqp.1_5'Flank|uc011aqq.1_5'Flank|FAM118A_uc011aqr.1_5'Flank	250	GBM-41-2571-TP	p.R126W	C	GCAGCACATCCGGAGTCCTGT	NM_001104595	NP_001098065	45723798	Q9NWS6	F118A_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	5	992	+	T	T		Ovarian(80;0.00965)|all_neural(38;0.0416)	Missense_Mutation	126						
FAM120A	23196		GRCh37	9	96289441	96289441	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000277165.6:c.1423A>C	p.Ile475Leu	p.I475L	ENST00000277165	NM_014612.3	475	Atc/Ctc	0																																																																																																																																																																																																																																												
FAM122A	0	broad.mit.edu	GRCh37	9	71395730	71395730	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-16-1045-01	TCGA-16-1045-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394264.3:c.650T>C	p.Phe217Ser	p.F217S	ENST00000394264	NM_138333.3	217	tTt/tCt	0			1			C	F/S	uc004agw.1	protein_coding	YES	CCDS6623.1			650/864										0	c.(649-651)TTT>TCT			hmmpanther:PTHR22227:SF3,hmmpanther:PTHR22227	hypothetical protein LOC116224				ENSP00000377807		1-Jan									COSM3413693	1-Jan	.		ENST00000394264	Transcript						ENSG00000187866	g.chr9:71395730T>C	23490			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=F122A_HUMAN&rb=201&re=287&var=F217S	NA	getma.org/?cm=var&var=hg19,9,71395730,T,C&fts=all	F217S	--	--	1																																		PIP5K1B_uc004agu.2_Intron|PIP5K1B_uc011lrq.1_Intron|PIP5K1B_uc004agv.2_Intron	1	1		benign(0.236)	p.F217S	NM_138333	NP_612206		tolerated(0.09)	1	F122A_HUMAN	FAM122A	HGNC	Q96E09	F122A_HUMAN			B4E242_HUMAN		1	767	+			UPI0000071E32	217					SNV	FAM122A,missense_variant,p.Phe217Ser,ENST00000394264,NM_138333.3;PIP5K1B,intron_variant,,ENST00000265382,NM_003558.3;PIP5K1B,intron_variant,,ENST00000541509,NM_001278253.1;PIP5K1B,intron_variant,,ENST00000440050,;PIP5K1B,intron_variant,,ENST00000437200,;PIP5K1B,intron_variant,,ENST00000377284,;PIP5K1B,intron_variant,,ENST00000472907,;PIP5K1B,intron_variant,,ENST00000478500,;	uc004agw.1	c.650T>C	767/3646	3	3			c.650T>C						9	SNP	c.(649-651)TTT>TCT	62	62				0	Broad	hypothetical protein LOC116224			71395730		0.453	ENSG00000187866	5332	g.chr9:71395730T>C										304.960501	KEEP	42	49	-1	67	51	42	49	-1	305.605336	67	51	0.438144	1	0	0	0	0	1	0	0	0	--	--		0	C			PIP5K1B_uc004agu.2_Intron|PIP5K1B_uc011lrq.1_Intron|PIP5K1B_uc004agv.2_Intron	157	GBM-16-1045-TP	p.F217S	T	CCAAAGAGATTTTTCCAGGGC	NM_138333	NP_612206	71395730	Q96E09	F122A_HUMAN	0			1	767	+	C	C			Missense_Mutation	217						
FAM124A	0	broad.mit.edu	GRCh37	13	51825705	51825705	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01	TCGA-16-0846-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322475.8:c.202G>A	p.Val68Ile	p.V68I	ENST00000322475	NM_001242312.1	68	Gtc/Atc	0			1			A	V/I	uc001vfg.1	protein_coding		CCDS55900.1			202/1641									central_nervous_system(1)	1	c.(202-204)GTC>ATC			hmmpanther:PTHR14715:SF4,hmmpanther:PTHR14715,Pfam_domain:PF15067	hypothetical protein LOC220108				ENSP00000324625		4-Mar									COSM3399413	4-Mar	.		ENST00000322475	Transcript						ENSG00000150510	g.chr13:51825705G>A	26413			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=F124A_HUMAN&rb=8&re=544&var=V68I	NA	getma.org/?cm=var&var=hg19,13,51825705,G,A&fts=all	V68I	--	--	1																																		FAM124A_uc001vfe.2_Missense_Mutation_p.V68I|FAM124A_uc001vff.1_Missense_Mutation_p.V104I	1			possibly_damaging(0.566)	p.V68I	NM_145019	NP_659456		tolerated(0.11)	1	F124A_HUMAN	FAM124A	HGNC	Q86V42	F124A_HUMAN		GBM - Glioblastoma multiforme(99;4.25e-07)			3	333	+		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)	UPI000013DBFA	68					SNV	FAM124A,missense_variant,p.Val68Ile,ENST00000322475,NM_001242312.1;FAM124A,missense_variant,p.Val104Ile,ENST00000280057,NM_145019.3;	uc001vfg.1	c.202G>A	337/4761	2	2			c.202G>A						13	SNP	c.(202-204)GTC>ATC	17	17			central_nervous_system(1)	1	Broad	hypothetical protein LOC220108			51825705		0.682	ENSG00000150510	5338	g.chr13:51825705G>A										27.407055	KEEP	8	6	-1	24	13	8	6	-1	29.560746	24	13	0.261905	1	0	0	0	0	1	0	0	0	--	--		0	A			FAM124A_uc001vfe.2_Missense_Mutation_p.V68I|FAM124A_uc001vff.1_Missense_Mutation_p.V104I	155	GBM-16-0846-TP	p.V68I	G	CATCGACAACGTCCTGGCGTG	NM_145019	NP_659456	51825705	Q86V42	F124A_HUMAN	0		GBM - Glioblastoma multiforme(99;4.25e-07)	3	333	+	A	A		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)	Missense_Mutation	68						
FAM124A	220108		GRCh37	13	51825704	51825704	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000280057.6:c.309C>T	p.Asn103=	p.N103=	ENST00000280057	NM_145019.3	103	aaC/aaT	0																																																																																																																																																																																																																																												
FAM124B	0	broad.mit.edu	GRCh37	2	225266256	225266256	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs149161165	by1000genomes	TCGA-14-0787-01	TCGA-14-0787-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409685.3:c.230C>T	p.Pro77Leu	p.P77L	ENST00000409685	NM_001122779.1	77	cCg/cTg	0			1			A	P/L	uc002vnx.2	protein_coding	YES	CCDS46527.1			230/1368									ovary(2)	2	c.(229-231)CCG>CTG			hmmpanther:PTHR14715:SF2,hmmpanther:PTHR14715,Pfam_domain:PF15067	hypothetical protein LOC79843 isoform a				ENSP00000386895		2-Jan									COSM3407615,COSM3407614	2-Jan	.		ENST00000409685	Transcript					protein binding	ENSG00000124019	g.chr2:225266256G>A	26224			MODERATE		-2.35	neutral	getma.org/?cm=msa&ty=f&p=F124B_HUMAN&rb=1&re=251&var=P77L	NA	getma.org/?cm=var&var=hg19,2,225266256,G,A&fts=all	P77L	--	--	1																																		FAM124B_uc002vnw.2_Missense_Mutation_p.P77L	1,1	1		benign(0)	p.P77L	NM_001122779	NP_001116251		tolerated(1)	1,1	F124B_HUMAN	FAM124B	HGNC	Q9H5Z6	F124B_HUMAN		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)			1	456	-		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)	UPI00002096DA	77					SNV	FAM124B,missense_variant,p.Pro77Leu,ENST00000389874,NM_024785.2;FAM124B,missense_variant,p.Pro77Leu,ENST00000409685,NM_001122779.1;FAM124B,missense_variant,p.Pro77Leu,ENST00000243806,;	uc002vnx.2	c.230C>T	496/2509	2	2			c.230C>T						2	SNP	c.(229-231)CCG>CTG	36	36			ovary(2)	2	Broad	hypothetical protein LOC79843 isoform a			225266256		0.572	ENSG00000124019	5339	g.chr2:225266256G>A			protein binding							126.320077	KEEP	23	21	-1	32	34	23	21	-1	126.722815	32	34	0.428571	1	0	0	0	0	1	0	0	0	--	--		0	A			FAM124B_uc002vnw.2_Missense_Mutation_p.P77L	135	GBM-14-0787-TP	p.P77L	G	ATCCTCTCCCGGGCTTTCGTG	NM_001122779	NP_001116251	225266256	Q9H5Z6	F124B_HUMAN	0		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)	1	456	-	A	A		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)	Missense_Mutation	77						
FAM126B	285172	broad.mit.edu	GRCh37	2	201857004	201857004	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T			TCGA-02-0033-01	TCGA-02-0033-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000418596.3:c.831G>A		p.X277_splice	ENST00000418596	NM_173822.3	277	ttG/ttA	0			1			T	L	uc002uws.3	protein_coding	YES	CCDS2335.1			831/1593									ovary(1)	1	c.(829-831)TTG>TTA			Pfam_domain:PF09790,hmmpanther:PTHR31220,hmmpanther:PTHR31220:SF3	hypothetical protein LOC285172				ENSP00000393667		12-Oct									COSM3407475	12-Oct	.		ENST00000418596	Transcript				intracellular		ENSG00000155744	g.chr2:201857004C>T	28593			LOW								--	--	1																																		FAM126B_uc002uwu.2_Silent_p.L195L|FAM126B_uc002uwv.2_Silent_p.L277L	1	1			p.L277L	NM_173822	NP_776183			1	F126B_HUMAN	FAM126B	HGNC	Q8IXS8	F126B_HUMAN			C9JTA1_HUMAN,C9JNS4_HUMAN,B3KW57_HUMAN		10	1019	-			UPI0000074347	277					SNV	FAM126B,splice_region_variant,p.=,ENST00000418596,NM_173822.3;AC005037.3,intron_variant,,ENST00000413848,;FAM126B,splice_region_variant,,ENST00000286181,;FAM126B,downstream_gene_variant,,ENST00000498780,;FAM126B,downstream_gene_variant,,ENST00000490725,;	uc002uws.3	c.831G>A	1019/9333	1	1			c.831G>A						2	SNP	c.(829-831)TTG>TTA	7	7			ovary(1)	1	Broad	hypothetical protein LOC285172			201857004		0.333	ENSG00000155744	5343	g.chr2:201857004C>T		intracellular								-31.221267	KEEP	1	4	-1	89	79	1	4	-1	7.925592	89	79	0.025478	1	0	0	0	0	0	0	1	0	--	--		0	T			FAM126B_uc002uwu.2_Silent_p.L195L|FAM126B_uc002uwv.2_Silent_p.L277L	2	GBM-02-0033-TP	p.L277L	C	AATAACTTACCAATAGTGGTT	NM_173822	NP_776183	201857004	Q8IXS8	F126B_HUMAN	0			10	1019	-	T	T			Silent	277						
HYCC2	0	broad.mit.edu	GRCh37	2	201881771	201881771	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000418596.3:c.276C>T	p.Ser92=	p.S92=	ENST00000418596	NM_173822.3	92	agC/agT	0			1			A	S	uc002uws.3	protein_coding	YES	CCDS2335.1			276/1593									ovary(1)	1	c.(274-276)AGC>AGT			Pfam_domain:PF09790,hmmpanther:PTHR31220,hmmpanther:PTHR31220:SF3	hypothetical protein LOC285172				ENSP00000393667		12-May									COSM3407476	12-May	.		ENST00000418596	Transcript				intracellular		ENSG00000155744	g.chr2:201881771G>A	28593			LOW								--	--	1																																		FAM126B_uc002uwu.2_Silent_p.S10S|FAM126B_uc002uwv.2_Silent_p.S92S|FAM126B_uc002uww.1_Silent_p.S92S	1	1			p.S92S	NM_173822	NP_776183			1	F126B_HUMAN	FAM126B	HGNC	Q8IXS8	F126B_HUMAN			C9JTA1_HUMAN,C9JNS4_HUMAN,B3KW57_HUMAN		5	464	-			UPI0000074347	92					SNV	FAM126B,synonymous_variant,p.=,ENST00000418596,NM_173822.3;FAM126B,synonymous_variant,p.=,ENST00000452799,;FAM126B,downstream_gene_variant,,ENST00000453765,;FAM126B,downstream_gene_variant,,ENST00000446678,;FAM126B,downstream_gene_variant,,ENST00000485144,;FAM126B,3_prime_UTR_variant,,ENST00000286181,;FAM126B,non_coding_transcript_exon_variant,,ENST00000498780,;	uc002uws.3	c.276C>T	464/9333	2	2			c.276C>T						2	SNP	c.(274-276)AGC>AGT	20	20			ovary(1)	1	Broad	hypothetical protein LOC285172			201881771		0.388	ENSG00000155744	5343	g.chr2:201881771G>A		intracellular								-6.299936	KEEP	6	0	-1	49	45	6	0	-1	11.578704	49	45	0.057471	1	0	0	0	0	0	0	1	0	--	--		0	A			FAM126B_uc002uwu.2_Silent_p.S10S|FAM126B_uc002uwv.2_Silent_p.S92S|FAM126B_uc002uww.1_Silent_p.S92S	162	GBM-19-2620-TP	p.S92S	G	GTCTGTCTCGGCTAACTGTAA	NM_173822	NP_776183	201881771	Q8IXS8	F126B_HUMAN	0			5	464	-	A	A			Silent	92						
HYCC2	0	broad.mit.edu	GRCh37	2	201853144	201853144	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-1991-01	TCGA-32-1991-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000418596.3:c.832G>C	p.Val278Leu	p.V278L	ENST00000418596	NM_173822.3	278	Gtt/Ctt	0			1			G	V/L	uc002uws.3	protein_coding	YES	CCDS2335.1			832/1593									ovary(1)	1	c.(832-834)GTT>CTT			Pfam_domain:PF09790,hmmpanther:PTHR31220,hmmpanther:PTHR31220:SF3	hypothetical protein LOC285172				ENSP00000393667		12-Nov									COSM3407474	12-Nov	.		ENST00000418596	Transcript				intracellular		ENSG00000155744	g.chr2:201853144C>G	28593			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=F126B_HUMAN&rb=20&re=330&var=V278L	NA	getma.org/?cm=var&var=hg19,2,201853144,C,G&fts=all	V278L	--	--	1																																		FAM126B_uc002uwu.2_Missense_Mutation_p.V196L|FAM126B_uc002uwv.2_Missense_Mutation_p.V278L	1	1		benign(0.021)	p.V278L	NM_173822	NP_776183		tolerated(0.19)	1	F126B_HUMAN	FAM126B	HGNC	Q8IXS8	F126B_HUMAN			C9JTA1_HUMAN,C9JNS4_HUMAN,B3KW57_HUMAN		11	1020	-			UPI0000074347	278					SNV	FAM126B,missense_variant,p.Val278Leu,ENST00000418596,NM_173822.3;AC005037.3,intron_variant,,ENST00000413848,;FAM126B,splice_region_variant,,ENST00000286181,;	uc002uws.3	c.832G>C	1020/9333	3	3			c.832G>C						2	SNP	c.(832-834)GTT>CTT	52	52			ovary(1)	1	Broad	hypothetical protein LOC285172			201853144		0.338	ENSG00000155744	5343	g.chr2:201853144C>G		intracellular								-44.145408	KEEP	0	3	-1	106	116	0	3	-1	8.387985	106	116	0.015228	1	0	0	0	0	1	0	0	0	--	--		0	G			FAM126B_uc002uwu.2_Missense_Mutation_p.V196L|FAM126B_uc002uwv.2_Missense_Mutation_p.V278L	234	GBM-32-1991-TP	p.V278L	C	GCATTGGCAACCTACAATGAT	NM_173822	NP_776183	201853144	Q8IXS8	F126B_HUMAN	0			11	1020	-	G	G			Missense_Mutation	278						
FAM127C	0	broad.mit.edu	GRCh37	X	134156181	134156181	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000391440.1:c.309G>A	p.Arg103=	p.R103=	ENST00000391440	NM_001078173.1	103	cgG/cgA	0			1			T	R	uc004eyc.1	protein_coding	YES	CCDS43996.1			309/342										0	c.(307-309)CGG>CGA			hmmpanther:PTHR15503,hmmpanther:PTHR15503:SF6	family with sequence similarity 127, member C				ENSP00000375268		1-Jan									COSM2157498	1-Jan	.		ENST00000391440	Transcript						ENSG00000212747	g.chrX:134156181C>T	33156			LOW								--	--	1																																			1	1			p.R103R	NM_001078173	NP_001071641			1	F127C_HUMAN	FAM127C	HGNC	Q17RB0	F127C_HUMAN					1	386	-	Acute lymphoblastic leukemia(192;0.000127)		UPI00001613F2	103					SNV	FAM127C,synonymous_variant,p.=,ENST00000391440,NM_001078173.1;	uc004eyc.1	c.309G>A	379/2017	2	2			c.309G>A						23	SNP	c.(307-309)CGG>CGA	24	24				0	Broad	family with sequence similarity 127, member C			134156181		0.667	ENSG00000212747	5346	g.chrX:134156181C>T										231.723223	KEEP	37	39	-1	6	6	37	39	-1	240.95138	6	6	0.855263	1	0	0	0	0	0	0	1	0	--	--		0	T				265	GBM-76-4925-TP	p.R103R	C	ATCCAAAGACCCGCTTCATCT	NM_001078173	NP_001071641	134156181	Q17RB0	F127C_HUMAN	0			1	386	-	T	T	Acute lymphoblastic leukemia(192;0.000127)		Silent	103						
FAM129A	116496	broad.mit.edu	GRCh37	1	184764446	184764446	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01	TCGA-06-5859-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367511.3:c.2452G>A	p.Glu818Lys	p.E818K	ENST00000367511	NM_052966.3	818	Gag/Aag	0			1			T	E/K	uc001gra.2	protein_coding	YES	CCDS1364.1			2452/2787									ovary(3)|skin(1)	4	c.(2452-2454)GAG>AAG			hmmpanther:PTHR14392,hmmpanther:PTHR14392:SF3,Low_complexity_(Seg):seg	niban protein isoform 2				ENSP00000356481		14/14									COSM2153380	14/14	.		ENST00000367511	Transcript			negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		ENSG00000135842	g.chr1:184764446C>T	16784			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=NIBAN_HUMAN&rb=795&re=928&var=E818K	NA	getma.org/?cm=var&var=hg19,1,184764446,C,T&fts=all	E818K	--	--	1																																		FAM129A_uc001grb.1_Intron	1	1		benign(0.002)	p.E818K	NM_052966	NP_443198		tolerated_low_confidence(0.69)	1	NIBAN_HUMAN	FAM129A	HGNC	Q9BZQ8	NIBAN_HUMAN					14	2646	-			UPI00000375B3	818			Glu-rich.		SNV	FAM129A,missense_variant,p.Glu818Lys,ENST00000367511,NM_052966.3;FAM129A,intron_variant,,ENST00000417056,;FAM129A,non_coding_transcript_exon_variant,,ENST00000487074,;	uc001gra.2	c.2452G>A	2646/6928	1	1			c.2452G>A						1	SNP	c.(2452-2454)GAG>AAG	11	11			ovary(3)|skin(1)	4	Broad	niban protein isoform 2			184764446		0.647	ENSG00000135842	5349	g.chr1:184764446C>T	negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane								186.911259	KEEP	41	25	-1	48	48	41	25	-1	188.348734	48	48	0.397436	1	0	0	0	0	1	0	0	0	--	--		0	T			FAM129A_uc001grb.1_Intron	103	GBM-06-5859-TP	p.E818K	C	GTGCAGGCCTCTCCTGGGAGC	NM_052966	NP_443198	184764446	Q9BZQ8	NIBAN_HUMAN	0			14	2646	-	T	T			Missense_Mutation	818			Glu-rich.			
FAM129A	0	broad.mit.edu	GRCh37	1	184787863	184787863	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367511.3:c.1082G>A	p.Gly361Glu	p.G361E	ENST00000367511	NM_052966.3	361	gGa/gAa	0			1			T	G/E	uc001gra.2	protein_coding	YES	CCDS1364.1			1082/2787									ovary(3)|skin(1)	4	c.(1081-1083)GGA>GAA			hmmpanther:PTHR14392,hmmpanther:PTHR14392:SF3	niban protein isoform 2				ENSP00000356481		14-Sep									COSM3400090	14-Sep	.		ENST00000367511	Transcript			negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		ENSG00000135842	g.chr1:184787863C>T	16784			MODERATE		2.415	medium	getma.org/?cm=msa&ty=f&p=NIBAN_HUMAN&rb=1&re=594&var=G361E	NA	getma.org/?cm=var&var=hg19,1,184787863,C,T&fts=all	G361E	--	--	1																																		FAM129A_uc001grb.1_Missense_Mutation_p.G124E|FAM129A_uc009wyh.1_Missense_Mutation_p.G189E|FAM129A_uc009wyi.1_Missense_Mutation_p.G159E	1	1		probably_damaging(1)	p.G361E	NM_052966	NP_443198		deleterious(0)	1	NIBAN_HUMAN	FAM129A	HGNC	Q9BZQ8	NIBAN_HUMAN					9	1276	-			UPI00000375B3	361					SNV	FAM129A,missense_variant,p.Gly361Glu,ENST00000367511,NM_052966.3;RNU7-13P,downstream_gene_variant,,ENST00000516413,;FAM129A,non_coding_transcript_exon_variant,,ENST00000487074,;FAM129A,downstream_gene_variant,,ENST00000461167,;	uc001gra.2	c.1082G>A	1276/6928	1	1			c.1082G>A						1	SNP	c.(1081-1083)GGA>GAA	14	14			ovary(3)|skin(1)	4	Broad	niban protein isoform 2			184787863		0.537	ENSG00000135842	5349	g.chr1:184787863C>T	negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane								-74.254384	KEEP	8	0	-1	184	162	8	0	-1	10.3052	184	162	0.018519	1	0	0	0	0	1	0	0	0	--	--		0	T			FAM129A_uc001grb.1_Missense_Mutation_p.G124E|FAM129A_uc009wyh.1_Missense_Mutation_p.G189E|FAM129A_uc009wyi.1_Missense_Mutation_p.G159E	122	GBM-12-0692-TP	p.G361E	C	TTCACTGAATCCCGAGCTCAC	NM_052966	NP_443198	184787863	Q9BZQ8	NIBAN_HUMAN	0			9	1276	-	T	T			Missense_Mutation	361						
FAM129B	0	broad.mit.edu	GRCh37	9	130289580	130289580	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01	TCGA-27-1838-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373312.3:c.208G>A	p.Val70Ile	p.V70I	ENST00000373312	NM_022833.2	70	Gtc/Atc	0			1			T	V/I	uc004brh.2	protein_coding	YES	CCDS35145.1			208/2241										0	c.(208-210)GTC>ATC			PROSITE_profiles:PS50003,hmmpanther:PTHR14392:SF2,hmmpanther:PTHR14392,Gene3D:2.30.29.30,Superfamily_domains:SSF50729	hypothetical protein LOC64855 isoform 1				ENSP00000362409		14-Mar	8.24E-05	9.67E-05	0.000173			1.51E-05		0.000363	rs541599134,COSM3413344,COSM3413345	14-Mar	.		ENST00000373312	Transcript					protein binding	ENSG00000136830	g.chr9:130289580C>T	25282			MODERATE		-0.895	neutral	getma.org/?cm=msa&ty=f&p=NIBL1_HUMAN&rb=6&re=731&var=V70I	NA	getma.org/?cm=var&var=hg19,9,130289580,C,T&fts=all	V70I	--	--	1																																		FAM129B_uc004bri.2_Missense_Mutation_p.V57I|FAM129B_uc004brj.3_Missense_Mutation_p.V70I	0,1,1	1		benign(0.001)	p.V70I	NM_022833	NP_073744		tolerated(1)	0,1,1	NIBL1_HUMAN	FAM129B	HGNC	Q96TA1	NIBL1_HUMAN			Q9H6L6_HUMAN		3	410	-			UPI00001592F0	70			PH.		SNV	FAM129B,missense_variant,p.Val70Ile,ENST00000373312,NM_022833.2;FAM129B,missense_variant,p.Val57Ile,ENST00000373314,NM_001035534.1;FAM129B,non_coding_transcript_exon_variant,,ENST00000468379,;FAM129B,intron_variant,,ENST00000484348,;FAM129B,intron_variant,,ENST00000478917,;FAM129B,upstream_gene_variant,,ENST00000476091,;	uc004brh.2	c.208G>A	422/3957	2	2			c.208G>A						9	SNP	c.(208-210)GTC>ATC	24	24				0	Broad	hypothetical protein LOC64855 isoform 1			130289580		0.637	ENSG00000136830	5350	g.chr9:130289580C>T			protein binding							66.508952	KEEP	16	15	-1	33	23	16	15	-1	68.518084	33	23	0.324324	1	0	0	0	0	1	0	0	0	--	--		0	T			FAM129B_uc004bri.2_Missense_Mutation_p.V57I|FAM129B_uc004brj.3_Missense_Mutation_p.V70I	197	GBM-27-1838-TP	p.V70I	C	CCCGAGAAGACGATGCGCTCG	NM_022833	NP_073744	130289580	Q96TA1	NIBL1_HUMAN	0			3	410	-	T	T			Missense_Mutation	70			PH.			
FAM129B	0	broad.mit.edu	GRCh37	9	130272452	130272452	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373312.3:c.1134C>T	p.Asn378=	p.N378=	ENST00000373312	NM_022833.2	378	aaC/aaT	0			1			A	N	uc004brh.2	protein_coding	YES	CCDS35145.1			1134/2241										0	c.(1132-1134)AAC>AAT			hmmpanther:PTHR14392:SF2,hmmpanther:PTHR14392	hypothetical protein LOC64855 isoform 1				ENSP00000362409		14-Sep	8.24E-06	9.62E-05							rs770588471,COSM3413342,COSM3413343	14-Sep	.		ENST00000373312	Transcript					protein binding	ENSG00000136830	g.chr9:130272452G>A	25282			LOW								--	--	1																																		FAM129B_uc004bri.2_Silent_p.N365N|FAM129B_uc004brj.3_Silent_p.N378N	0,1,1	1			p.N378N	NM_022833	NP_073744			0,1,1	NIBL1_HUMAN	FAM129B	HGNC	Q96TA1	NIBL1_HUMAN			Q9H6L6_HUMAN		9	1336	-			UPI00001592F0	378					SNV	FAM129B,synonymous_variant,p.=,ENST00000373312,NM_022833.2;FAM129B,synonymous_variant,p.=,ENST00000373314,NM_001035534.1;FAM129B,non_coding_transcript_exon_variant,,ENST00000465154,;FAM129B,intron_variant,,ENST00000468379,;FAM129B,intron_variant,,ENST00000484348,;FAM129B,intron_variant,,ENST00000478917,;	uc004brh.2	c.1134C>T	1348/3957	2	2			c.1134C>T						9	SNP	c.(1132-1134)AAC>AAT	21	21				0	Broad	hypothetical protein LOC64855 isoform 1			130272452		0.637	ENSG00000136830	5350	g.chr9:130272452G>A			protein binding							141.014236	KEEP	25	33	-1	37	39	25	33	-1	141.401461	37	39	0.4375	1	0	0	0	0	0	0	1	0	--	--		0	A			FAM129B_uc004bri.2_Silent_p.N365N|FAM129B_uc004brj.3_Silent_p.N378N	230	GBM-32-1979-TP	p.N378N	G	TGCCGCCCTCGTTGATGACGT	NM_022833	NP_073744	130272452	Q96TA1	NIBL1_HUMAN	0			9	1336	-	A	A			Silent	378						
FAM129C	0	broad.mit.edu	GRCh37	19	17649991	17649991	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01	TCGA-32-4208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335393.4:c.721G>A	p.Ala241Thr	p.A241T	ENST00000335393	NM_173544.4	241	Gcc/Acc	0			1			A	A/T	uc010xpr.1	protein_coding	YES	CCDS12362.1			721/2094										0	c.(721-723)GCC>ACC			hmmpanther:PTHR14392,hmmpanther:PTHR14392:SF4	B-cell novel protein 1 isoform a				ENSP00000335040		16-Jul									COSM3403921,COSM3403922,COSM3403923	16-Jul	.		ENST00000335393	Transcript						ENSG00000167483	g.chr19:17649991G>A	24130			MODERATE		2.19	medium	getma.org/?cm=msa&ty=f&p=NIBL2_HUMAN&rb=1&re=619&var=A241T	NA	getma.org/?cm=var&var=hg19,19,17649991,G,A&fts=all	A241T	--	--	1																																		FAM129C_uc010xpq.1_Missense_Mutation_p.A241T|FAM129C_uc002ngy.3_5'UTR|FAM129C_uc010xpu.1_5'UTR|FAM129C_uc002ngz.3_RNA|FAM129C_uc010eaw.2_5'UTR|FAM129C_uc002nhb.2_5'Flank	1,1,1	1		probably_damaging(0.999)	p.A241T	NM_173544	NP_775815		deleterious(0.02)	1,1,1	NIBL2_HUMAN	FAM129C	HGNC	Q86XR2	NIBL2_HUMAN			M0R0E0_HUMAN,B4DNU3_HUMAN		7	859	+			UPI0000246FFF	241					SNV	FAM129C,missense_variant,p.Ala241Thr,ENST00000335393,NM_173544.4;FAM129C,missense_variant,p.Ala241Thr,ENST00000595684,;FAM129C,missense_variant,p.Ala241Thr,ENST00000332386,NM_001098524.1;FAM129C,missense_variant,p.Ala210Thr,ENST00000601861,;FAM129C,missense_variant,p.Ala241Thr,ENST00000352727,;FAM129C,missense_variant,p.Ala210Thr,ENST00000599164,;FAM129C,missense_variant,p.Ala241Thr,ENST00000300971,;FAM129C,missense_variant,p.Ala210Thr,ENST00000599124,;FAM129C,missense_variant,p.Ala187Thr,ENST00000600871,;FAM129C,5_prime_UTR_variant,,ENST00000449408,;FAM129C,downstream_gene_variant,,ENST00000597887,;FAM129C,missense_variant,p.Ala210Thr,ENST00000600519,;FAM129C,non_coding_transcript_exon_variant,,ENST00000599819,;FAM129C,upstream_gene_variant,,ENST00000595601,;	uc010xpr.1	c.721G>A	859/2508	2	2			c.721G>A						19	SNP	c.(721-723)GCC>ACC	36	36				0	Broad	B-cell novel protein 1 isoform a			17649991		0.697	ENSG00000167483	5351	g.chr19:17649991G>A										7.118636	KEEP	2	1	-1	7	8	2	1	-1	8.172985	7	8	0.214286	1	0	0	0	0	1	0	0	0	--	--		0	A			FAM129C_uc010xpq.1_Missense_Mutation_p.A241T|FAM129C_uc002ngy.3_5'UTR|FAM129C_uc010xpu.1_5'UTR|FAM129C_uc002ngz.3_RNA|FAM129C_uc010eaw.2_5'UTR|FAM129C_uc002nhb.2_5'Flank	243	GBM-32-4208-TP	p.A241T	G	TGCTGCCCGGGCCTTCCTGGA	NM_173544	NP_775815	17649991	Q86XR2	NIBL2_HUMAN	0			7	859	+	A	A			Missense_Mutation	241						
FAM129C	199786		GRCh37	19	17653014	17653014	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000335393.4:c.1333A>G	p.Ser445Gly	p.S445G	ENST00000335393	NM_173544.4	445	Agc/Ggc	0																																																																																																																																																																																																																																												
FAM131C	0	broad.mit.edu	GRCh37	1	16390042	16390042	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-5299-01	TCGA-12-5299-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375662.4:c.112G>A	p.Val38Met	p.V38M	ENST00000375662	NM_182623.2	38	Gtg/Atg	0			1			T	V/M	uc001axz.3	protein_coding	YES	CCDS41270.1			112/843										0	c.(112-114)GTG>ATG			hmmpanther:PTHR15736,hmmpanther:PTHR15736:SF2	hypothetical protein LOC348487				ENSP00000364814		7-Feb	2.48E-05					4.53E-05			rs771345920,COSM3399948	7-Feb	.		ENST00000375662	Transcript						ENSG00000185519	g.chr1:16390042C>T	26717			MODERATE		0.41	neutral	getma.org/?cm=msa&ty=f&p=F131C_HUMAN&rb=9&re=278&var=V38M	NA	getma.org/?cm=var&var=hg19,1,16390042,C,T&fts=all	V38M	--	--	1																																		FAM131C_uc010obz.1_Missense_Mutation_p.V38M	0,1	1		benign(0.03)	p.V38M	NM_182623	NP_872429		tolerated(0.15)	0,1	F131C_HUMAN	FAM131C	HGNC	Q96AQ9	F131C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)			2	302	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	UPI000022B016	38					SNV	FAM131C,missense_variant,p.Val38Met,ENST00000375662,NM_182623.2;FAM131C,intron_variant,,ENST00000494078,;	uc001axz.3	c.112G>A	296/1695	2	2			c.112G>A						1	SNP	c.(112-114)GTG>ATG	18	18				0	Broad	hypothetical protein LOC348487			16390042		0.632	ENSG00000185519	5354	g.chr1:16390042C>T										67.444138	KEEP	7	21	-1	31	41	7	21	-1	69.94894	31	41	0.3125	1	0	0	0	0	1	0	0	0	--	--		0	T			FAM131C_uc010obz.1_Missense_Mutation_p.V38M	130	GBM-12-5299-TP	p.V38M	C	TCTGGAGCCACGGTGGGAGTG	NM_182623	NP_872429	16390042	Q96AQ9	F131C_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)	2	302	-	T	T		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	38						
FAM134A	0	broad.mit.edu	GRCh37	2	220046109	220046109	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000430297.2:c.803C>T	p.Ala268Val	p.A268V	ENST00000430297	NM_024293.4	268	gCa/gTa	0			1			T	A/V	uc002vjw.3	protein_coding	YES	CCDS2434.1			803/1632									ovary(1)|central_nervous_system(1)	2	c.(802-804)GCA>GTA				hypothetical protein LOC79137				ENSP00000395249		9-Jul									COSM3407587	9-Jul	.		ENST00000430297	Transcript				endoplasmic reticulum|integral to membrane		ENSG00000144567	g.chr2:220046109C>T	28450			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=F134A_HUMAN&rb=246&re=541&var=A268V	NA	getma.org/?cm=var&var=hg19,2,220046109,C,T&fts=all	A268V	--	--	1																																		FAM134A_uc010fwc.2_Missense_Mutation_p.A61V|FAM134A_uc002vjx.2_Missense_Mutation_p.A61V	1	1		benign(0.004)	p.A268V	NM_024293	NP_077269		tolerated(0.22)	1	F134A_HUMAN	FAM134A	HGNC	Q8NC44	F134A_HUMAN		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	C9JIF3_HUMAN,C9J3K5_HUMAN		7	939	+		Renal(207;0.0915)	UPI000013D996	268					SNV	FAM134A,missense_variant,p.Ala268Val,ENST00000430297,NM_024293.4;FAM134A,missense_variant,p.Ala61Val,ENST00000458520,;FAM134A,missense_variant,p.Ala61Val,ENST00000452022,;CNPPD1,upstream_gene_variant,,ENST00000409789,;CNPPD1,upstream_gene_variant,,ENST00000360507,NM_015680.4;FAM134A,upstream_gene_variant,,ENST00000420189,;CNPPD1,upstream_gene_variant,,ENST00000453038,;CNPPD1,upstream_gene_variant,,ENST00000451647,;FAM134A,downstream_gene_variant,,ENST00000430747,;FAM134A,downstream_gene_variant,,ENST00000443757,;FAM134A,3_prime_UTR_variant,,ENST00000273048,;FAM134A,non_coding_transcript_exon_variant,,ENST00000481925,;FAM134A,downstream_gene_variant,,ENST00000452293,;FAM134A,downstream_gene_variant,,ENST00000465672,;	uc002vjw.3	c.803C>T	939/4618	2	2			c.803C>T						2	SNP	c.(802-804)GCA>GTA	47	47			ovary(1)|central_nervous_system(1)	2	Broad	hypothetical protein LOC79137			220046109		0.547	ENSG00000144567	5358	g.chr2:220046109C>T		endoplasmic reticulum|integral to membrane								-27.482632	KEEP	3	2	-1	71	84	3	2	-1	6.449888	71	84	0.028777	1	0	0	0	0	1	0	0	0	--	--		0	T			FAM134A_uc010fwc.2_Missense_Mutation_p.A61V|FAM134A_uc002vjx.2_Missense_Mutation_p.A61V	271	GBM-76-4932-TP	p.A268V	C	GGGAAGAATGCACCCCCAGGA	NM_024293	NP_077269	220046109	Q8NC44	F134A_HUMAN	0		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	939	+	T	T		Renal(207;0.0915)	Missense_Mutation	268						
FAM135B	51059	broad.mit.edu	GRCh37	8	139164211	139164211	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0745-01	TCGA-06-0745-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395297.1:c.2507C>G	p.Ala836Gly	p.A836G	ENST00000395297	NM_015912.3	836	gCt/gGt	0			1			C	A/G	uc003yuy.2	protein_coding	YES	CCDS6375.2			2507/4221									ovary(7)|skin(2)	9	c.(2506-2508)GCT>GGT			hmmpanther:PTHR12482,hmmpanther:PTHR12482:SF3	hypothetical protein LOC51059				ENSP00000378710		13/20									COSM2151701,COSM2151700	13/20	.		ENST00000395297	Transcript						ENSG00000147724	g.chr8:139164211G>C	28029			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=F135B_HUMAN&rb=770&re=969&var=A836G	NA	getma.org/?cm=var&var=hg19,8,139164211,G,C&fts=all	A836G	--	--	1				HNSCC(54;0.14)																														FAM135B_uc003yux.2_Missense_Mutation_p.A737G|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.A398G|FAM135B_uc003yvb.2_Missense_Mutation_p.A398G	1,1	1		benign(0.003)	p.A836G	NM_015912	NP_056996		tolerated(0.16)	1,1	F135B_HUMAN	FAM135B	HGNC	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		J3QSR3_HUMAN		13	2678	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		UPI000057A0DB	836					SNV	FAM135B,missense_variant,p.Ala836Gly,ENST00000395297,NM_015912.3;FAM135B,missense_variant,p.Ala836Gly,ENST00000276737,;FAM135B,missense_variant,p.Ala146Gly,ENST00000467365,;FAM135B,3_prime_UTR_variant,,ENST00000482951,;FAM135B,upstream_gene_variant,,ENST00000395295,;	uc003yuy.2	c.2507C>G	2678/6962	3	3			c.2507C>G						8	SNP	c.(2506-2508)GCT>GGT	2	2			ovary(7)|skin(2)	9	Broad	hypothetical protein LOC51059			139164211		0.522	ENSG00000147724	5362	g.chr8:139164211G>C										138.36231	KEEP	32	13	-1	36	28	32	13	-1	139.141317	36	28	0.405941	1	0	0	0	0	1	0	0	0	--	--	HNSCC(54;0.14)	0	C			FAM135B_uc003yux.2_Missense_Mutation_p.A737G|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.A398G|FAM135B_uc003yvb.2_Missense_Mutation_p.A398G	67	GBM-06-0745-TP	p.A836G	G	CTGGTTGTCAGCATCTAAAAC	NM_015912	NP_056996	139164211	Q49AJ0	F135B_HUMAN	0	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2678	-	C	C	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	836						
FAM135B	0	broad.mit.edu	GRCh37	8	139209806	139209806	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-27-1830-01	TCGA-27-1830-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395297.1:c.776T>C	p.Phe259Ser	p.F259S	ENST00000395297	NM_015912.3	259	tTc/tCc	0			1			G	F/S	uc003yuy.2	protein_coding	YES	CCDS6375.2			776/4221									ovary(7)|skin(2)	9	c.(775-777)TTC>TCC			hmmpanther:PTHR12482,hmmpanther:PTHR12482:SF3	hypothetical protein LOC51059				ENSP00000378710		20-Aug									COSM1173383,COSM1173384	20-Aug	.		ENST00000395297	Transcript						ENSG00000147724	g.chr8:139209806A>G	28029			MODERATE		1.975	medium	getma.org/?cm=msa&ty=f&p=F135B_HUMAN&rb=174&re=311&var=F259S	NA	getma.org/?cm=var&var=hg19,8,139209806,A,G&fts=all	F259S	--	--	1				HNSCC(54;0.14)																														FAM135B_uc003yux.2_Missense_Mutation_p.F160S|FAM135B_uc003yuz.2_RNA	1,1	1		benign(0.271)	p.F259S	NM_015912	NP_056996		deleterious(0)	1,1	F135B_HUMAN	FAM135B	HGNC	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		J3QSR3_HUMAN		8	947	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		UPI000057A0DB	259					SNV	FAM135B,missense_variant,p.Phe259Ser,ENST00000395297,NM_015912.3;FAM135B,missense_variant,p.Phe259Ser,ENST00000276737,;FAM135B,3_prime_UTR_variant,,ENST00000482951,;	uc003yuy.2	c.776T>C	947/6962	3	3			c.776T>C						8	SNP	c.(775-777)TTC>TCC	63	63			ovary(7)|skin(2)	9	Broad	hypothetical protein LOC51059			139209806		0.612	ENSG00000147724	5362	g.chr8:139209806A>G										-4.313742	KEEP	4	4	-1	48	41	4	4	-1	13.740213	48	41	0.065217	1	0	0	0	0	1	0	0	0	--	--	HNSCC(54;0.14)	0	G			FAM135B_uc003yux.2_Missense_Mutation_p.F160S|FAM135B_uc003yuz.2_RNA	189	GBM-27-1830-TP	p.F259S	A	GATCACCAGGAAGTGGAGACG	NM_015912	NP_056996	139209806	Q49AJ0	F135B_HUMAN	0	BRCA - Breast invasive adenocarcinoma(115;0.0805)		8	947	-	G	G	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	259						
FAM136A	84908	broad.mit.edu	GRCh37	2	70524589	70524589	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0879-01	TCGA-06-0879-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000037869.3:c.249C>T	p.Thr83=	p.T83=	ENST00000037869	NM_032822.2	83	acC/acT	0			1			A	T	uc002sgq.3	protein_coding	YES	CCDS1904.1			249/417										0	c.(247-249)ACC>ACT			hmmpanther:PTHR21096,Pfam_domain:PF05811	hypothetical protein LOC84908				ENSP00000037869		3-Mar									COSM3407950	3-Mar	.		ENST00000037869	Transcript				mitochondrion	protein binding	ENSG00000035141	g.chr2:70524589G>A	25911			LOW								--	--	1																																		FAM136A_uc010fdp.2_RNA	1	1			p.T83T	NM_032822	NP_116211			1	F136A_HUMAN	FAM136A	HGNC	Q96C01	F136A_HUMAN			B0AZT6_HUMAN		3	326	-			UPI000006D92A	83					SNV	FAM136A,synonymous_variant,p.=,ENST00000037869,NM_032822.2;FAM136A,synonymous_variant,p.=,ENST00000430566,;FAM136A,synonymous_variant,p.=,ENST00000438759,;FAM136A,3_prime_UTR_variant,,ENST00000450256,;SNRPG,upstream_gene_variant,,ENST00000482975,;SNRPG,upstream_gene_variant,,ENST00000272348,NM_003096.2;SNRPG,upstream_gene_variant,,ENST00000454893,;SNRPG,upstream_gene_variant,,ENST00000438261,;SNRPG,upstream_gene_variant,,ENST00000449935,;SNRPG,upstream_gene_variant,,ENST00000413456,;AC022201.5,upstream_gene_variant,,ENST00000445084,;SNRPG,upstream_gene_variant,,ENST00000429728,;FAM136A,non_coding_transcript_exon_variant,,ENST00000460307,;FAM136A,downstream_gene_variant,,ENST00000498665,;SNRPG,upstream_gene_variant,,ENST00000480370,;SNRPG,upstream_gene_variant,,ENST00000488400,;	uc002sgq.3	c.249C>T	328/1810	1	1			c.249C>T						2	SNP	c.(247-249)ACC>ACT	61	61				0	Broad	hypothetical protein LOC84908			70524589		0.403	ENSG00000035141	5363	g.chr2:70524589G>A		mitochondrion	protein binding							-29.615998	KEEP	6	5	-1	119	104	6	5	-1	17.756128	119	104	0.042654	1	0	0	0	0	0	0	1	0	--	--		0	A			FAM136A_uc010fdp.2_RNA	75	GBM-06-0879-TP	p.T83T	G	TGCAATGCATGGTGCACCGGG	NM_032822	NP_116211	70524589	Q96C01	F136A_HUMAN	0			3	326	-	A	A			Silent	83						
FAM136A	84908	broad.mit.edu	GRCh37	2	70524463	70524463	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2557-01	TCGA-06-2557-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000037869.3:c.375G>A	p.Met125Ile	p.M125I	ENST00000037869	NM_032822.2	125	atG/atA	0			1			T	M/I	uc002sgq.3	protein_coding	YES	CCDS1904.1			375/417										0	c.(373-375)ATG>ATA			hmmpanther:PTHR21096,Pfam_domain:PF05811	hypothetical protein LOC84908				ENSP00000037869		3-Mar									COSM2152544	3-Mar	.		ENST00000037869	Transcript				mitochondrion	protein binding	ENSG00000035141	g.chr2:70524463C>T	25911			MODERATE		1.705	low	getma.org/?cm=msa&ty=f&p=F136A_HUMAN&rb=3&re=133&var=M125I	NA	getma.org/?cm=var&var=hg19,2,70524463,C,T&fts=all	M125I	--	--	1																																		FAM136A_uc010fdp.2_RNA	1	1		benign(0.303)	p.M125I	NM_032822	NP_116211		tolerated(0.06)	1	F136A_HUMAN	FAM136A	HGNC	Q96C01	F136A_HUMAN			B0AZT6_HUMAN		3	452	-			UPI000006D92A	125					SNV	FAM136A,missense_variant,p.Met125Ile,ENST00000037869,NM_032822.2;FAM136A,missense_variant,p.Met232Ile,ENST00000430566,;FAM136A,3_prime_UTR_variant,,ENST00000450256,;SNRPG,upstream_gene_variant,,ENST00000482975,;SNRPG,upstream_gene_variant,,ENST00000272348,NM_003096.2;SNRPG,upstream_gene_variant,,ENST00000454893,;FAM136A,downstream_gene_variant,,ENST00000438759,;SNRPG,upstream_gene_variant,,ENST00000438261,;SNRPG,upstream_gene_variant,,ENST00000449935,;SNRPG,upstream_gene_variant,,ENST00000413456,;AC022201.5,upstream_gene_variant,,ENST00000445084,;SNRPG,upstream_gene_variant,,ENST00000429728,;FAM136A,non_coding_transcript_exon_variant,,ENST00000460307,;FAM136A,downstream_gene_variant,,ENST00000498665,;SNRPG,upstream_gene_variant,,ENST00000480370,;SNRPG,upstream_gene_variant,,ENST00000488400,;	uc002sgq.3	c.375G>A	454/1810	2	2			c.375G>A						2	SNP	c.(373-375)ATG>ATA	17	17				0	Broad	hypothetical protein LOC84908			70524463		0.433	ENSG00000035141	5363	g.chr2:70524463C>T		mitochondrion	protein binding							164.825439	KEEP	28	35	-1	69	41	28	35	-1	167.524494	69	41	0.360759	1	0	0	0	0	1	0	0	0	--	--		0	T			FAM136A_uc010fdp.2_RNA	81	GBM-06-2557-TP	p.M125I	C	TCTTCTTGGTCATAGTTGGGA	NM_032822	NP_116211	70524463	Q96C01	F136A_HUMAN	0			3	452	-	T	T			Missense_Mutation	125						
FAM13A	0	broad.mit.edu	GRCh37	4	89668975	89668975	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-2623-01	TCGA-19-2623-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264344.5:c.2189A>G	p.Asp730Gly	p.D730G	ENST00000264344	NM_014883.3	730	gAc/gGc	0			1			C	D/G	uc003hse.1	protein_coding	YES	CCDS34029.1			2189/3072									ovary(1)|liver(1)	2	c.(2188-2190)GAC>GGC			hmmpanther:PTHR15904:SF18,hmmpanther:PTHR15904	family with sequence similarity 13, member A1				ENSP00000264344		18/24									COSM3409613,COSM3409614	18/24	.		ENST00000264344	Transcript	1		regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	ENSG00000138640	g.chr4:89668975T>C	19367			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=FA13A_HUMAN&rb=544&re=937&var=D730G	NA	getma.org/?cm=var&var=hg19,4,89668975,T,C&fts=all	D730G	--	--	1																																		FAM13A_uc003hsa.1_Missense_Mutation_p.D201G|FAM13A_uc003hsb.1_Missense_Mutation_p.D404G|FAM13A_uc003hsd.1_Missense_Mutation_p.D404G|FAM13A_uc003hsc.1_Missense_Mutation_p.D390G|FAM13A_uc011cdq.1_Missense_Mutation_p.D376G|FAM13A_uc003hsf.1_Missense_Mutation_p.D316G|FAM13A_uc003hsg.1_Missense_Mutation_p.D201G	1,1	1		possibly_damaging(0.78)	p.D730G	NM_014883	NP_055698		deleterious(0)	1,1	FA13A_HUMAN	FAM13A	HGNC	O94988	FA13A_HUMAN			B4DPB4_HUMAN		18	2397	-			UPI0000481AF3	730			Potential.		SNV	FAM13A,missense_variant,p.Asp730Gly,ENST00000264344,NM_014883.3;FAM13A,missense_variant,p.Asp404Gly,ENST00000395002,NM_001265579.1,NM_001015045.2;FAM13A,missense_variant,p.Asp316Gly,ENST00000511976,;FAM13A,missense_variant,p.Asp390Gly,ENST00000503556,NM_001265578.1;FAM13A,missense_variant,p.Asp404Gly,ENST00000508369,;FAM13A,missense_variant,p.Asp376Gly,ENST00000513837,NM_001265580.1;FAM13A,3_prime_UTR_variant,,ENST00000504836,;FAM13A,non_coding_transcript_exon_variant,,ENST00000511573,;FAM13A,non_coding_transcript_exon_variant,,ENST00000508360,;FAM13A,downstream_gene_variant,,ENST00000507352,;FAM13A,downstream_gene_variant,,ENST00000515155,;	uc003hse.1	c.2189A>G	2397/5858	3	3			c.2189A>G						4	SNP	c.(2188-2190)GAC>GGC	49	49			ovary(1)|liver(1)	2	Broad	family with sequence similarity 13, member A1			89668975		0.348	ENSG00000138640	5364	g.chr4:89668975T>C	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity							142.877668	KEEP	31	25	-1	129	95	31	25	-1	163.41647	129	95	0.203187	1	0	0	0	0	1	0	0	0	--	--		0	C			FAM13A_uc003hsa.1_Missense_Mutation_p.D201G|FAM13A_uc003hsb.1_Missense_Mutation_p.D404G|FAM13A_uc003hsd.1_Missense_Mutation_p.D404G|FAM13A_uc003hsc.1_Missense_Mutation_p.D390G|FAM13A_uc011cdq.1_Missense_Mutation_p.D376G|FAM13A_uc003hsf.1_Missense_Mutation_p.D316G|FAM13A_uc003hsg.1_Missense_Mutation_p.D201G	163	GBM-19-2623-TP	p.D730G	T	GGGAGTTAGGTCCTCTTCAGA	NM_014883	NP_055698	89668975	O94988	FA13A_HUMAN	0			18	2397	-	C	C			Missense_Mutation	730			Potential.			
FAM13A	0	broad.mit.edu	GRCh37	4	89941642	89941642	+	synonymous_variant	Silent	SNP	C	C	T	rs147082682	byFrequency	TCGA-26-5136-01	TCGA-26-5136-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264344.5:c.396G>A	p.Ala132=	p.A132=	ENST00000264344	NM_014883.3	132	gcG/gcA	0	T:0.0002		1			T	A	uc003hse.1	protein_coding	YES	CCDS34029.1			396/3072									ovary(1)|liver(1)	2	c.(394-396)GCG>GCA			Superfamily_domains:SSF48350,SMART_domains:SM00324,Gene3D:1.10.555.10,Pfam_domain:PF00620,hmmpanther:PTHR15904:SF18,hmmpanther:PTHR15904,PROSITE_profiles:PS50238	family with sequence similarity 13, member A1			T:0.0001	ENSP00000264344		24-Mar	5.77E-05	9.73E-05		0.000233		4.54E-05		6.15E-05	rs147082682,COSM2157101	24-Mar	.		ENST00000264344	Transcript	1		regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	ENSG00000138640	g.chr4:89941642C>T	19367			LOW								--	--	1																																		FAM13A_uc003hsf.1_5'UTR|FAM13A_uc003hsh.1_5'UTR|FAM13A_uc003hsi.2_Silent_p.A132A|FAM13A_uc003hsj.2_Silent_p.A132A	0,1	1			p.A132A	NM_014883	NP_055698			0,1	FA13A_HUMAN	FAM13A	HGNC	O94988	FA13A_HUMAN			B4DPB4_HUMAN		3	604	-			UPI0000481AF3	132			Rho-GAP.		SNV	FAM13A,synonymous_variant,p.=,ENST00000264344,NM_014883.3;FAM13A,synonymous_variant,p.=,ENST00000509094,;FAM13A,synonymous_variant,p.=,ENST00000515600,;FAM13A,5_prime_UTR_variant,,ENST00000511976,;FAM13A,downstream_gene_variant,,ENST00000506913,;FAM13A,non_coding_transcript_exon_variant,,ENST00000502459,;FAM13A,synonymous_variant,p.=,ENST00000512339,;	uc003hse.1	c.396G>A	604/5858	1	1			c.396G>A						4	SNP	c.(394-396)GCG>GCA	16	16			ovary(1)|liver(1)	2	Broad	family with sequence similarity 13, member A1			89941642		0.423	ENSG00000138640	5364	g.chr4:89941642C>T	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity							71.738883	KEEP	16	15	-1	18	28	16	15	-1	72.387459	18	28	0.393939	1	0	0	0	0	0	0	1	0	--	--		0	T			FAM13A_uc003hsf.1_5'UTR|FAM13A_uc003hsh.1_5'UTR|FAM13A_uc003hsi.2_Silent_p.A132A|FAM13A_uc003hsj.2_Silent_p.A132A	185	GBM-26-5136-TP	p.A132A	C	GAGGCTGCAACGCTGAGGTGA	NM_014883	NP_055698	89941642	O94988	FA13A_HUMAN	0			3	604	-	T	T			Silent	132			Rho-GAP.			
FAM13B	0	broad.mit.edu	GRCh37	5	137275998	137275998	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-26-5139-01	TCGA-26-5139-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000033079.3:c.2664G>A	p.Glu888=	p.E888=	ENST00000033079	NM_016603.2	888	gaG/gaA	0			1			T	E	uc003lbz.2	protein_coding	YES	CCDS4195.1			2664/2748										0	c.(2662-2664)GAG>GAA			hmmpanther:PTHR15904:SF16,hmmpanther:PTHR15904	hypothetical protein LOC51306 isoform 1				ENSP00000033079		23/23									COSM2157155,COSM2157156	23/23	.		ENST00000033079	Transcript			regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	ENSG00000031003	g.chr5:137275998C>T	1335			LOW								--	--	1																																		FAM13B_uc003lcb.2_Silent_p.E764E|FAM13B_uc003lca.2_Silent_p.E860E|PKD2L2_uc003lbw.1_3'UTR|PKD2L2_uc003lbx.2_3'UTR|PKD2L2_uc003lby.2_Intron|PKD2L2_uc011cyi.1_3'UTR	1,1	1			p.E888E	NM_016603	NP_057687			1,1	FA13B_HUMAN	FAM13B	HGNC	Q9NYF5	FA13B_HUMAN			D6RE97_HUMAN,D6RDL7_HUMAN,D6RCA0_HUMAN,D6RBJ3_HUMAN,D6RAT6_HUMAN		23	3198	-			UPI000004A03C	888					SNV	FAM13B,synonymous_variant,p.=,ENST00000033079,NM_016603.2;FAM13B,synonymous_variant,p.=,ENST00000420893,NM_001101800.1;FAM13B,synonymous_variant,p.=,ENST00000425075,NM_001101801.1;PKD2L2,3_prime_UTR_variant,,ENST00000508638,NM_001258449.1;PKD2L2,3_prime_UTR_variant,,ENST00000290431,NM_014386.3;PKD2L2,3_prime_UTR_variant,,ENST00000502810,NM_001258448.1;PKD2L2,intron_variant,,ENST00000508883,;PKD2L2,downstream_gene_variant,,ENST00000350250,;FAM13B,downstream_gene_variant,,ENST00000513640,;	uc003lbz.2	c.2664G>A	3116/5465	1	1			c.2664G>A						5	SNP	c.(2662-2664)GAG>GAA	7	7				0	Broad	hypothetical protein LOC51306 isoform 1			137275998		0.353	ENSG00000031003	5365	g.chr5:137275998C>T	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity							161.270711	KEEP	35	30	-1	59	52	35	30	-1	163.306899	59	52	0.378205	1	0	0	0	0	0	0	1	0	--	--		0	T			FAM13B_uc003lcb.2_Silent_p.E764E|FAM13B_uc003lca.2_Silent_p.E860E|PKD2L2_uc003lbw.1_3'UTR|PKD2L2_uc003lbx.2_3'UTR|PKD2L2_uc003lby.2_Intron|PKD2L2_uc011cyi.1_3'UTR	186	GBM-26-5139-TP	p.E888E	C	ACTCTCTGTACTCCTCAAGCA	NM_016603	NP_057687	137275998	Q9NYF5	FA13B_HUMAN	0			23	3198	-	T	T			Silent	888						
FAM13C	0	broad.mit.edu	GRCh37	10	61023889	61023889	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-12-0615-01	TCGA-12-0615-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373868.2:c.980T>C	p.Leu327Pro	p.L327P	ENST00000373868	NM_198215.3	327	cTg/cCg	0			1			G	L/P	uc001jkn.2	protein_coding	YES	CCDS7255.1			980/1758									ovary(2)	2	c.(979-981)CTG>CCG			hmmpanther:PTHR15904:SF1,hmmpanther:PTHR15904	hypothetical protein LOC220965 isoform 1				ENSP00000362975		14-Sep									COSM3397190,COSM3397191	14-Sep	.		ENST00000373868	Transcript						ENSG00000148541	g.chr10:61023889A>G	19371			MODERATE		2.505	medium	getma.org/?cm=msa&ty=f&p=FA13C_HUMAN&rb=1&re=500&var=L327P	NA	getma.org/?cm=var&var=hg19,10,61023889,A,G&fts=all	L327P	--	--	1																																		FAM13C_uc001jko.2_Intron|FAM13C_uc010qid.1_Missense_Mutation_p.L244P|FAM13C_uc010qie.1_Missense_Mutation_p.L244P|FAM13C_uc010qif.1_Missense_Mutation_p.L349P|FAM13C_uc001jkp.2_Missense_Mutation_p.L244P	1,1	1		probably_damaging(1)	p.L327P	NM_198215	NP_937858		deleterious(0)	1,1	FA13C_HUMAN	FAM13C	HGNC	Q8NE31	FA13C_HUMAN			D6RIX4_HUMAN		10	1114	-			UPI00001AEA18	327					SNV	FAM13C,missense_variant,p.Leu244Pro,ENST00000373867,NM_001166698.1;FAM13C,missense_variant,p.Leu348Pro,ENST00000277705,;FAM13C,missense_variant,p.Leu348Pro,ENST00000442566,;FAM13C,missense_variant,p.Leu327Pro,ENST00000373868,NM_198215.3;FAM13C,missense_variant,p.Leu244Pro,ENST00000468840,NM_001143773.1;FAM13C,missense_variant,p.Leu327Pro,ENST00000435852,;FAM13C,missense_variant,p.Leu327Pro,ENST00000422313,;FAM13C,missense_variant,p.Leu105Pro,ENST00000468696,;FAM13C,intron_variant,,ENST00000419214,NM_001001971.2;FAM13C,intron_variant,,ENST00000489341,;FAM13C,3_prime_UTR_variant,,ENST00000513059,;FAM13C,downstream_gene_variant,,ENST00000513377,;FAM13C,downstream_gene_variant,,ENST00000507568,;	uc001jkn.2	c.980T>C	1068/3327	3	3			c.980T>C						10	SNP	c.(979-981)CTG>CCG	10	10			ovary(2)	2	Broad	hypothetical protein LOC220965 isoform 1			61023889		0.289	ENSG00000148541	5366	g.chr10:61023889A>G										-15.896623	KEEP	1	4	-1	60	60	1	4	-1	8.338593	60	60	0.038095	1	0	0	0	0	1	0	0	0	--	--		0	G			FAM13C_uc001jko.2_Intron|FAM13C_uc010qid.1_Missense_Mutation_p.L244P|FAM13C_uc010qie.1_Missense_Mutation_p.L244P|FAM13C_uc010qif.1_Missense_Mutation_p.L349P|FAM13C_uc001jkp.2_Missense_Mutation_p.L244P	117	GBM-12-0615-TP	p.L327P	A	CATCCATTTCAGGACTTCAGG	NM_198215	NP_937858	61023889	Q8NE31	FA13C_HUMAN	0			10	1114	-	G	G			Missense_Mutation	327						
FAM13C	0	broad.mit.edu	GRCh37	10	61029825	61029825	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01	TCGA-28-5204-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373868.2:c.637G>A	p.Ala213Thr	p.A213T	ENST00000373868	NM_198215.3	213	Gca/Aca	0			1			T	A/T	uc001jkn.2	protein_coding	YES	CCDS7255.1			637/1758									ovary(2)	2	c.(637-639)GCA>ACA			hmmpanther:PTHR15904:SF1,hmmpanther:PTHR15904	hypothetical protein LOC220965 isoform 1				ENSP00000362975		14-Jul									COSM3397192,COSM3397193	14-Jul	.		ENST00000373868	Transcript						ENSG00000148541	g.chr10:61029825C>T	19371			MODERATE		-0.4	neutral	getma.org/?cm=msa&ty=f&p=FA13C_HUMAN&rb=1&re=500&var=A213T	NA	getma.org/?cm=var&var=hg19,10,61029825,C,T&fts=all	A213T	--	--	1																																		FAM13C_uc001jko.2_Missense_Mutation_p.A213T|FAM13C_uc010qid.1_Missense_Mutation_p.A130T|FAM13C_uc010qie.1_Missense_Mutation_p.A130T|FAM13C_uc010qif.1_Missense_Mutation_p.A235T|FAM13C_uc001jkp.2_Missense_Mutation_p.A130T	1,1	1		benign(0.003)	p.A213T	NM_198215	NP_937858		tolerated(0.29)	1,1	FA13C_HUMAN	FAM13C	HGNC	Q8NE31	FA13C_HUMAN			D6RIX4_HUMAN		8	771	-			UPI00001AEA18	213					SNV	FAM13C,missense_variant,p.Ala130Thr,ENST00000373867,NM_001166698.1;FAM13C,missense_variant,p.Ala234Thr,ENST00000277705,;FAM13C,missense_variant,p.Ala234Thr,ENST00000442566,;FAM13C,missense_variant,p.Ala213Thr,ENST00000373868,NM_198215.3;FAM13C,missense_variant,p.Ala213Thr,ENST00000419214,NM_001001971.2;FAM13C,missense_variant,p.Ala130Thr,ENST00000468840,NM_001143773.1;FAM13C,missense_variant,p.Ala213Thr,ENST00000435852,;FAM13C,missense_variant,p.Ala213Thr,ENST00000422313,;FAM13C,upstream_gene_variant,,ENST00000468696,;FAM13C,non_coding_transcript_exon_variant,,ENST00000477101,;FAM13C,intron_variant,,ENST00000489341,;FAM13C,3_prime_UTR_variant,,ENST00000513059,;FAM13C,non_coding_transcript_exon_variant,,ENST00000513377,;FAM13C,non_coding_transcript_exon_variant,,ENST00000507568,;	uc001jkn.2	c.637G>A	725/3327	1	1			c.637G>A						10	SNP	c.(637-639)GCA>ACA	14	14			ovary(2)	2	Broad	hypothetical protein LOC220965 isoform 1			61029825		0.532	ENSG00000148541	5366	g.chr10:61029825C>T										87.320961	KEEP	16	31	-1	49	41	16	31	-1	90.442707	49	41	0.324561	1	0	0	0	0	1	0	0	0	--	--		0	T			FAM13C_uc001jko.2_Missense_Mutation_p.A213T|FAM13C_uc010qid.1_Missense_Mutation_p.A130T|FAM13C_uc010qie.1_Missense_Mutation_p.A130T|FAM13C_uc010qif.1_Missense_Mutation_p.A235T|FAM13C_uc001jkp.2_Missense_Mutation_p.A130T	215	GBM-28-5204-TP	p.A213T	C	TCTTCTGGTGCACTGTCGGCC	NM_198215	NP_937858	61029825	Q8NE31	FA13C_HUMAN	0			8	771	-	T	T			Missense_Mutation	213						
FAM13C	0	broad.mit.edu	GRCh37	10	61022289	61022289	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-41-2575-01	TCGA-41-2575-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373868.2:c.1141C>G	p.Pro381Ala	p.P381A	ENST00000373868	NM_198215.3	381	Ccg/Gcg	0			1			C	P/A	uc001jkn.2	protein_coding	YES	CCDS7255.1			1141/1758									ovary(2)	2	c.(1141-1143)CCG>GCG			hmmpanther:PTHR15904:SF1,hmmpanther:PTHR15904	hypothetical protein LOC220965 isoform 1				ENSP00000362975		14-Oct									COSM3397188,COSM3397189	14-Oct	.		ENST00000373868	Transcript						ENSG00000148541	g.chr10:61022289G>C	19371			MODERATE		0.455	neutral	getma.org/?cm=msa&ty=f&p=FA13C_HUMAN&rb=1&re=500&var=P381A	NA	getma.org/?cm=var&var=hg19,10,61022289,G,C&fts=all	P381A	--	--	1																																		FAM13C_uc001jko.2_Intron|FAM13C_uc010qid.1_Missense_Mutation_p.P298A|FAM13C_uc010qie.1_Missense_Mutation_p.P298A|FAM13C_uc010qif.1_Missense_Mutation_p.P403A|FAM13C_uc001jkp.2_Missense_Mutation_p.P298A	1,1	1		benign(0.015)	p.P381A	NM_198215	NP_937858		tolerated(0.33)	1,1	FA13C_HUMAN	FAM13C	HGNC	Q8NE31	FA13C_HUMAN			D6RIX4_HUMAN		11	1275	-			UPI00001AEA18	381					SNV	FAM13C,missense_variant,p.Pro298Ala,ENST00000373867,NM_001166698.1;FAM13C,missense_variant,p.Pro402Ala,ENST00000277705,;FAM13C,missense_variant,p.Pro402Ala,ENST00000442566,;FAM13C,missense_variant,p.Pro381Ala,ENST00000373868,NM_198215.3;FAM13C,missense_variant,p.Pro298Ala,ENST00000468840,NM_001143773.1;FAM13C,missense_variant,p.Pro381Ala,ENST00000435852,;FAM13C,missense_variant,p.Pro381Ala,ENST00000422313,;FAM13C,intron_variant,,ENST00000419214,NM_001001971.2;FAM13C,downstream_gene_variant,,ENST00000468696,;FAM13C,intron_variant,,ENST00000489341,;FAM13C,3_prime_UTR_variant,,ENST00000513059,;	uc001jkn.2	c.1141C>G	1229/3327	3	3			c.1141C>G						10	SNP	c.(1141-1143)CCG>GCG	9	9			ovary(2)	2	Broad	hypothetical protein LOC220965 isoform 1			61022289		0.547	ENSG00000148541	5366	g.chr10:61022289G>C										162.257551	KEEP	27	27	-1	15	10	27	27	-1	164.010211	15	10	0.666667	1	0	0	0	0	1	0	0	0	--	--		0	C			FAM13C_uc001jko.2_Intron|FAM13C_uc010qid.1_Missense_Mutation_p.P298A|FAM13C_uc010qie.1_Missense_Mutation_p.P298A|FAM13C_uc010qif.1_Missense_Mutation_p.P403A|FAM13C_uc001jkp.2_Missense_Mutation_p.P298A	253	GBM-41-2575-TP	p.P381A	G	CTTGGCTCCGGGCCCGCAGCT	NM_198215	NP_937858	61022289	Q8NE31	FA13C_HUMAN	0			11	1275	-	C	C			Missense_Mutation	381						
FAM150A	0	broad.mit.edu	GRCh37	8	53452429	53452429	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs145116532		TCGA-02-2486-01	TCGA-02-2486-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358543.4:c.287G>A	p.Arg96Gln	p.R96Q	ENST00000358543	NM_207413.3	96	cGa/cAa	0	T:0	T:0	1	T:0		T	R/Q	uc003xrd.2	protein_coding	YES	CCDS6150.1			287/390										0	c.(286-288)CGA>CAA			Pfam_domain:PF15129	hypothetical protein LOC389658 precursor		T:0.001	T:0.0001	ENSP00000351345	T:0	5-Mar	4.94E-05		8.66E-05	0.000116		4.50E-05		6.06E-05	rs145116532,COSM3413058	5-Mar	.		ENST00000358543	Transcript		T:0.0004		extracellular region		ENSG00000196711	g.chr8:53452429C>T	33775			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=F150A_HUMAN&rb=35&re=127&var=R96Q	NA	getma.org/?cm=var&var=hg19,8,53452429,C,T&fts=all	R96Q	--	--	1																																		FAM150A_uc011ldt.1_Missense_Mutation_p.R96Q	0,1	1		probably_damaging(0.998)	p.R96Q	NM_207413	NP_997296	T:0.001	deleterious(0)	0,1	F150A_HUMAN	FAM150A	HGNC	Q6UXT8	F150A_HUMAN					3	492	-		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)	UPI00001D6942	96					SNV	FAM150A,missense_variant,p.Arg96Gln,ENST00000358543,NM_207413.3;FAM150A,missense_variant,p.Arg96Gln,ENST00000523939,;	uc003xrd.2	c.287G>A	538/1217	1	1			c.287G>A						8	SNP	c.(286-288)CGA>CAA	15	15				0	Broad	hypothetical protein LOC389658 precursor			53452429		0.363	ENSG00000196711	5368	g.chr8:53452429C>T		extracellular region								83.355696	KEEP	15	14	-1	19	8	15	14	-1	83.428651	19	8	0.541667	1	0	0	0	0	1	0	0	0	--	--		0	T			FAM150A_uc011ldt.1_Missense_Mutation_p.R96Q	8	GBM-02-2486-TP	p.R96Q	C	GTAATAGAGTCGGTGGAAATG	NM_207413	NP_997296	53452429	Q6UXT8	F150A_HUMAN	0			3	492	-	T	T		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)	Missense_Mutation	96						
FAM151A	0	broad.mit.edu	GRCh37	1	55078368	55078368	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-16-0846-01	TCGA-16-0846-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302250.2:c.591C>A	p.Val197=	p.V197=	ENST00000302250	NM_176782.2	197	gtC/gtA	0			1			T	V	uc001cxn.2	protein_coding	YES	CCDS594.1			591/1758										0	c.(589-591)GTC>GTA			hmmpanther:PTHR21184,hmmpanther:PTHR21184:SF4,Pfam_domain:PF10223	hypothetical protein LOC338094				ENSP00000306888		8-May									COSM3400887	8-May	.		ENST00000302250	Transcript				integral to membrane		ENSG00000162391	g.chr1:55078368G>T	25032			LOW								--	--	1																																		ACOT11_uc001cxm.1_Intron	1	1			p.V197V	NM_176782	NP_788954			1	F151A_HUMAN	FAM151A	HGNC	Q8WW52	F151A_HUMAN					5	723	-			UPI000003776D	197					SNV	FAM151A,synonymous_variant,p.=,ENST00000302250,NM_176782.2;FAM151A,synonymous_variant,p.=,ENST00000371304,;ACOT11,intron_variant,,ENST00000371316,NM_015547.3;ACOT11,downstream_gene_variant,,ENST00000343744,NM_147161.3;ACOT11,downstream_gene_variant,,ENST00000481208,;	uc001cxn.2	c.591C>A	752/2005	1	1			c.591C>A						1	SNP	c.(589-591)GTC>GTA	12	12				0	Broad	hypothetical protein LOC338094			55078368		0.562	ENSG00000162391	5370	g.chr1:55078368G>T		integral to membrane								107.097693	KEEP	31	16	0.659574468	37	28	31	16	0.659574468	107.913261	37	28	0.402062	1	0	0	0	0	0	0	1	0	--	--		0	T			ACOT11_uc001cxm.1_Intron	155	GBM-16-0846-TP	p.V197V	G	ACTTCTCCTGGACCAGGGCCA	NM_176782	NP_788954	55078368	Q8WW52	F151A_HUMAN	0			5	723	-	T	T			Silent	197						
NALF2	0	broad.mit.edu	GRCh37	X	68725733	68725733	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252338.4:c.608C>T	p.Thr203Met	p.T203M	ENST00000252338	NM_015686.2	203	aCg/aTg	0			1			T	T/M	uc004dxk.2	protein_coding	YES	CCDS35317.1			608/1419									ovary(1)|breast(1)	2	c.(607-609)ACG>ATG			hmmpanther:PTHR15819,hmmpanther:PTHR15819:SF6	transmembrane protein 28				ENSP00000252338		3-Jan									COSM3406542	3-Jan	.		ENST00000252338	Transcript				integral to membrane		ENSG00000130054	g.chrX:68725733C>T	30701			MODERATE		1.525	low	getma.org/?cm=msa&ty=f&p=F155B_HUMAN&rb=180&re=471&var=T203M	NA	getma.org/?cm=var&var=hg19,X,68725733,C,T&fts=all	T203M	--	--	1																																			1	1		probably_damaging(0.994)	p.T203M	NM_015686	NP_056501		deleterious(0)	1	F155B_HUMAN	FAM155B	HGNC	O75949	F155B_HUMAN					1	656	+			UPI0000070EAA	203					SNV	FAM155B,missense_variant,p.Thr203Met,ENST00000252338,NM_015686.2;AL158069.1,downstream_gene_variant,,ENST00000579664,;	uc004dxk.2	c.608C>T	650/4013	1	1			c.608C>T						23	SNP	c.(607-609)ACG>ATG	11	11			ovary(1)|breast(1)	2	Broad	transmembrane protein 28			68725733		0.632	ENSG00000130054	5378	g.chrX:68725733C>T		integral to membrane								42.624076	KEEP	6	12	-1	21	19	6	12	-1	44.290893	21	19	0.314815	1	0	0	0	0	1	0	0	0	--	--		0	T				177	GBM-19-5959-TP	p.T203M	C	GACACCTACACGGTCTGGGAC	NM_015686	NP_056501	68725733	O75949	F155B_HUMAN	0			1	656	+	T	T			Missense_Mutation	203						
FAM160A2	84067		GRCh37	11	6239211	6239211	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000265978.4:c.1647C>T	p.Gly549=	p.G549=	ENST00000265978	NM_032127.3	549	ggC/ggT	0																																																																																																																																																																																																																																												
FAM169B	283777	broad.mit.edu	GRCh37	15	99023998	99023998	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0171-01	TCGA-06-0171-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000558256.1:c.15G>A	p.Ser5=	p.S5=	ENST00000558256	NM_182562.2	5	tcG/tcA	0			1			T	S	uc002buk.1	protein_coding	YES	CCDS45360.1			15/579										0	c.(13-15)TCG>TCA			hmmpanther:PTHR22442:SF4,hmmpanther:PTHR22442	hypothetical protein LOC283777				ENSP00000453554		7-Apr	2.48E-05	0.000209	8.75E-05						rs762037007,COSM2150343	7-Apr	.		ENST00000558256	Transcript						ENSG00000185087	g.chr15:99023998C>T	26835			LOW								--	--	1																																			0,1	1			p.S5S	NM_182562	NP_872368			0,1	F169B_HUMAN	FAM169B	HGNC	Q8N8A8	F169B_HUMAN					4	265	-			UPI0000199E5A	5					SNV	FAM169B,synonymous_variant,p.=,ENST00000558256,NM_182562.2;FAM169B,synonymous_variant,p.=,ENST00000332908,;	uc002buk.1	c.15G>A	265/3298	1	1			c.15G>A						15	SNP	c.(13-15)TCG>TCA	13	13				0	Broad	hypothetical protein LOC283777			99023998		0.378	ENSG00000185087	5399	g.chr15:99023998C>T										42.941651	KEEP	6	11	-1	15	22	6	11	-1	44.564934	15	22	0.306122	1	0	0	0	0	0	0	1	0	--	--		0	T				35	GBM-06-0171-TP	p.S5S	C	TTTCCCCAAACGACTGAACCT	NM_182562	NP_872368	99023998	Q8N8A8	F169B_HUMAN	0			4	265	-	T	T			Silent	5						
FAM175A	0	broad.mit.edu	GRCh37	4	84388619	84388641	+	frameshift_variant	Frame_Shift_Del	DEL	TTGTAATGAAGCATACATTTCAT	TTGTAATGAAGCATACATTTCAT	-			TCGA-32-4208-01	TCGA-32-4208-01	TTGTAATGAAGCATACATTTCAT	TTGTAATGAAGCATACATTTCAT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321945.7:c.647_669delATGAAATGTATGCTTCATTACAA	p.Asn216ArgfsTer14	p.N216Rfs*14	ENST00000321945	NM_139076.2	216	aATGAAATGTATGCTTCATTACAA/a	0			1			-	NEMYASLQ/X	uc003hou.2	protein_coding	YES	CCDS3605.2			647-669/1230									kidney(1)	1	c.(646-669)AATGAAATGTATGCTTCATTACAAfs			Coiled-coils_(Ncoils):Coil,Prints_domain:PR02052,hmmpanther:PTHR31728,hmmpanther:PTHR31728:SF2	coiled-coil domain containing 98				ENSP00000369857		9-Jul										9-Jul	.		ENST00000321945	Transcript			chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding	ENSG00000163322	g.chr4:84388619_84388641delTTGTAATGAAGCATACATTTCAT	25829			HIGH								--	--	1																																		MRPS18C_uc011ccu.1_Intron|FAM175A_uc003hot.2_Frame_Shift_Del_p.N44fs|FAM175A_uc003hov.2_Frame_Shift_Del_p.N107fs		1			p.N216fs	NM_139076	NP_620775				F175A_HUMAN	FAM175A	HGNC	Q6UWZ7	F175A_HUMAN			D6REL5_HUMAN		7	712_734	-			UPI00005A8ABD	216_223			Potential.		deletion	FAM175A,frameshift_variant,p.Asn216ArgfsTer14,ENST00000321945,NM_139076.2;FAM175A,frameshift_variant,p.Asn167ArgfsTer14,ENST00000506553,;MRPS18C,3_prime_UTR_variant,,ENST00000509970,;MRPS18C,intron_variant,,ENST00000509571,;FAM175A,downstream_gene_variant,,ENST00000505489,;FAM175A,downstream_gene_variant,,ENST00000503217,;FAM175A,3_prime_UTR_variant,,ENST00000475656,;FAM175A,non_coding_transcript_exon_variant,,ENST00000504777,;FAM175A,downstream_gene_variant,,ENST00000511801,;	uc003hou.2	c.647_669delATGAAATGTATGCTTCATTACAA	756-778/2869	5	5			c.647_669delATGAAATGTATGCTTCATTACAA						4	DEL	c.(646-669)AATGAAATGTATGCTTCATTACAAfs	31	31			kidney(1)	1	Broad	coiled-coil domain containing 98			84388641		0.309	ENSG00000163322	5408	g.chr4:84388619_84388641delTTGTAATGAAGCATACATTTCAT	chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding																				0.13	1	1	0	1	0	0	0	0	0	--	--		0	-			MRPS18C_uc011ccu.1_Intron|FAM175A_uc003hot.2_Frame_Shift_Del_p.N44fs|FAM175A_uc003hov.2_Frame_Shift_Del_p.N107fs	243	GBM-32-4208-TP	p.N216fs	TTGTAATGAAGCATACATTTCAT	TTAATTCCTCTTGTAATGAAGCATACATTTCATTTATCTTATG	NM_139076	NP_620775	84388619	Q6UWZ7	F175A_HUMAN	0			7	712_734	-	-	-			Frame_Shift_Del	216_223			Potential.			
FAM177B	400823	broad.mit.edu	GRCh37	1	222919976	222919976	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0128-01	TCGA-06-0128-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000445590.2:c.89A>G	p.Asp30Gly	p.D30G	ENST00000445590	NM_207468.2	30	gAc/gGc	0			1			G	D/G	uc001hnt.2	protein_coding		CCDS1535.2			89/477									ovary(1)	1	c.(88-90)GAC>GGC			hmmpanther:PTHR31206:SF4,hmmpanther:PTHR31206,Pfam_domain:PF14774	hypothetical protein LOC400823				ENSP00000354070		6-Mar									COSM3400357	6-Mar	.		ENST00000360827	Transcript						ENSG00000197520	g.chr1:222919976A>G	34395			MODERATE		2.34	medium	getma.org/?cm=msa&ty=f&p=F177B_HUMAN&rb=1&re=156&var=D30G	NA	getma.org/?cm=var&var=hg19,1,222919976,A,G&fts=all	D30G	--	--	1																																		uc001hnr.1_Intron|FAM177B_uc009xeb.2_RNA	1			probably_damaging(0.923)	p.D30G	NM_207468	NP_997351		deleterious(0.02)	1	F177B_HUMAN	FAM177B	HGNC	A6PVY3	F177B_HUMAN			A6PVY2_HUMAN,A6PVY1_HUMAN		3	355	+			UPI00001D75B4	30					SNV	FAM177B,missense_variant,p.Asp30Gly,ENST00000445590,NM_207468.2;FAM177B,missense_variant,p.Asp30Gly,ENST00000360827,;FAM177B,missense_variant,p.Asp30Gly,ENST00000456298,;FAM177B,missense_variant,p.Asp30Gly,ENST00000434700,;FAM177B,missense_variant,p.Asp30Gly,ENST00000391880,;FAM177B,intron_variant,,ENST00000460763,;	uc001hnt.2	c.89A>G	238/764	3	3			c.89A>G						1	SNP	c.(88-90)GAC>GGC	50	50			ovary(1)	1	Broad	hypothetical protein LOC400823			222919976		0.323	ENSG00000197520	5413	g.chr1:222919976A>G										-18.066343	KEEP	3	0	-1	65	44	3	0	-1	7.042895	65	44	0.029126	1	0	0	0	0	1	0	0	0	--	--		0	G			uc001hnr.1_Intron|FAM177B_uc009xeb.2_RNA	14	GBM-06-0128-TP	p.D30G	A	CATTTTGTTGACGGAGACATC	NM_207468	NP_997351	222919976	A6PVY3	F177B_HUMAN	0			3	355	+	G	G			Missense_Mutation	30						
FAM178A	0	broad.mit.edu	GRCh37	10	102676871	102676871	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000238961.4:c.729C>T	p.Tyr243=	p.Y243=	ENST00000238961	NM_018121.3	243	taC/taT	0			1			T	Y	uc001krt.3	protein_coding		CCDS7500.1			729/3522										0	c.(727-729)TAC>TAT			hmmpanther:PTHR16046,hmmpanther:PTHR16046:SF10	hypothetical protein LOC55719 isoform 1				ENSP00000238961		20-Mar									COSM2154777,COSM2154778,COSM3396872	20-Mar	.		ENST00000238961	Transcript						ENSG00000119906	g.chr10:102676871C>T	17814			LOW								--	--	1																																		FAM178A_uc001krr.1_Silent_p.Y243Y|FAM178A_uc001krs.2_Silent_p.Y243Y|FAM178A_uc001kru.1_Silent_p.Y179Y	1,1,1				p.Y243Y	NM_018121	NP_060591			1,1,1	F178A_HUMAN	FAM178A	HGNC	Q8IX21	F178A_HUMAN					3	1271	+			UPI00001AE6AA	243					SNV	FAM178A,synonymous_variant,p.=,ENST00000238961,NM_018121.3;FAM178A,synonymous_variant,p.=,ENST00000370269,NM_001136123.1;FAM178A,synonymous_variant,p.=,ENST00000370271,;FAM178A,downstream_gene_variant,,ENST00000609386,NM_001243770.1;RP11-179B2.2,upstream_gene_variant,,ENST00000608554,;	uc001krt.3	c.729C>T	1271/7288	1	1			c.729C>T						10	SNP	c.(727-729)TAC>TAT	8	8				0	Broad	hypothetical protein LOC55719 isoform 1			102676871		0.473	ENSG00000119906	5414	g.chr10:102676871C>T										113.295563	KEEP	18	23	-1	15	17	18	23	-1	113.413224	15	17	0.545455	1	0	0	0	0	0	0	1	0	--	--		0	T			FAM178A_uc001krr.1_Silent_p.Y243Y|FAM178A_uc001krs.2_Silent_p.Y243Y|FAM178A_uc001kru.1_Silent_p.Y179Y	138	GBM-14-0813-TP	p.Y243Y	C	TAGCTTCTTACTGCAGAGAAC	NM_018121	NP_060591	102676871	Q8IX21	F178A_HUMAN	0			3	1271	+	T	T			Silent	243						
FAM178A	0	broad.mit.edu	GRCh37	10	102710503	102710503	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01	TCGA-14-1450-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000238961.4:c.3323G>A	p.Gly1108Glu	p.G1108E	ENST00000238961	NM_018121.3	1108	gGa/gAa	0			1			A	G/E	uc001krt.3	protein_coding		CCDS7500.1			3323/3522										0	c.(3322-3324)GGA>GAA			hmmpanther:PTHR16046,hmmpanther:PTHR16046:SF10	hypothetical protein LOC55719 isoform 1				ENSP00000238961		17/20									COSM3396875,COSM3396874	17/20	.		ENST00000238961	Transcript						ENSG00000119906	g.chr10:102710503G>A	17814			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=F178A_HUMAN&rb=1080&re=1173&var=G1108E	NA	getma.org/?cm=var&var=hg19,10,102710503,G,A&fts=all	G1108E	--	--	1																																		FAM178A_uc001krs.2_Missense_Mutation_p.G1108E	1,1			possibly_damaging(0.67)	p.G1108E	NM_018121	NP_060591		tolerated(0.37)	1,1	F178A_HUMAN	FAM178A	HGNC	Q8IX21	F178A_HUMAN					17	3865	+			UPI00001AE6AA	1108					SNV	FAM178A,missense_variant,p.Gly1108Glu,ENST00000238961,NM_018121.3;FAM178A,missense_variant,p.Gly1108Glu,ENST00000370269,NM_001136123.1;	uc001krt.3	c.3323G>A	3865/7288	1	1			c.3323G>A						10	SNP	c.(3322-3324)GGA>GAA	61	61				0	Broad	hypothetical protein LOC55719 isoform 1			102710503		0.338	ENSG00000119906	5414	g.chr10:102710503G>A										50.473401	KEEP	9	9	-1	9	11	9	9	-1	50.479594	9	11	0.485714	1	0	0	0	0	1	0	0	0	--	--		0	A			FAM178A_uc001krs.2_Missense_Mutation_p.G1108E	145	GBM-14-1450-TP	p.G1108E	G	TTTTCTTCTGGACAACGGGTA	NM_018121	NP_060591	102710503	Q8IX21	F178A_HUMAN	0			17	3865	+	A	A			Missense_Mutation	1108						
FAM179A	0	broad.mit.edu	GRCh37	2	29268218	29268218	+	synonymous_variant	Silent	SNP	T	T	A			TCGA-19-1390-01	TCGA-19-1390-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379558.4:c.2664T>A	p.Ala888=	p.A888=	ENST00000379558	NM_199280.2	888	gcT/gcA	0			1			A	A	uc010ezl.2	protein_coding	YES	CCDS1769.2			2664/3060									ovary(3)|skin(1)	4	c.(2662-2664)GCT>GCA			hmmpanther:PTHR21567:SF31,hmmpanther:PTHR21567,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	hypothetical protein LOC165186				ENSP00000368876		19/20									COSM3407811,COSM3407810	19/20	.		ENST00000379558	Transcript					binding	ENSG00000189350	g.chr2:29268218T>A	33715			LOW								--	--	1																																		FAM179A_uc010ymm.1_Silent_p.A833A|FAM179A_uc002rmr.3_Silent_p.A415A|FAM179A_uc002rms.1_Silent_p.A186A	1,1	1			p.A888A	NM_199280	NP_954974			1,1	F179A_HUMAN	FAM179A	HGNC	Q6ZUX3	F179A_HUMAN			C9JLI7_HUMAN,C9JJW1_HUMAN,B5MCN5_HUMAN		19	3015	+			UPI00014F7B81	888					SNV	FAM179A,synonymous_variant,p.=,ENST00000379558,NM_199280.2;FAM179A,synonymous_variant,p.=,ENST00000403861,;FAM179A,non_coding_transcript_exon_variant,,ENST00000465300,;FAM179A,non_coding_transcript_exon_variant,,ENST00000475900,;	uc010ezl.2	c.2664T>A	3015/12691	2	2			c.2664T>A						2	SNP	c.(2662-2664)GCT>GCA	35	35			ovary(3)|skin(1)	4	Broad	hypothetical protein LOC165186			29268218		0.627	ENSG00000189350	5415	g.chr2:29268218T>A			binding							67.021068	KEEP	19	13	-1	53	53	19	13	-1	74.527016	53	53	0.227273	1	0	0	0	0	0	0	1	0	--	--		0	A			FAM179A_uc010ymm.1_Silent_p.A833A|FAM179A_uc002rmr.3_Silent_p.A415A|FAM179A_uc002rms.1_Silent_p.A186A	159	GBM-19-1390-TP	p.A888A	T	CAGCGCTTGCTGGGCGAGTGC	NM_199280	NP_954974	29268218	Q6ZUX3	F179A_HUMAN	0			19	3015	+	A	A			Silent	888						
FAM181A	90050	broad.mit.edu	GRCh37	14	94394688	94394688	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0152-01	TCGA-06-0152-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267594.5:c.243C>T	p.Ser81=	p.S81=	ENST00000267594	NM_138344.4	81	agC/agT	0	T:0.0002		1			T	S	uc001ybz.1	protein_coding	YES	CCDS9914.1			243/1065										0	c.(241-243)AGC>AGT			Pfam_domain:PF15238	hypothetical protein LOC90050			T:0	ENSP00000267594		3-Mar									rs369127722,COSM2149888	3-Mar	.		ENST00000267594	Transcript						ENSG00000140067	g.chr14:94394688C>T	20491			LOW								--	--	1																																		C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Silent_p.S19S|FAM181A_uc001yca.1_Silent_p.S19S	0,1	1			p.S81S	NM_138344	NP_612353			0,1	F181A_HUMAN	FAM181A	HGNC	Q8N9Y4	F181A_HUMAN			G3V5K4_HUMAN		3	550	+			UPI00004567C0	81					SNV	FAM181A,synonymous_variant,p.=,ENST00000267594,NM_138344.4,NM_001207074.1,NM_001207073.1;FAM181A,synonymous_variant,p.=,ENST00000557000,NM_001207072.1;FAM181A,synonymous_variant,p.=,ENST00000556222,;FAM181A,synonymous_variant,p.=,ENST00000557719,NM_001207071.1;FAM181A,synonymous_variant,p.=,ENST00000554404,;FAM181A-AS1,upstream_gene_variant,,ENST00000554742,;FAM181A-AS1,upstream_gene_variant,,ENST00000554538,;FAM181A-AS1,upstream_gene_variant,,ENST00000556290,;FAM181A-AS1,upstream_gene_variant,,ENST00000555732,;	uc001ybz.1	c.243C>T	550/1816	1	1			c.243C>T						14	SNP	c.(241-243)AGC>AGT	10	10				0	Broad	hypothetical protein LOC90050			94394688		0.587	ENSG00000140067	5418	g.chr14:94394688C>T										86.236979	KEEP	21	12	-1	30	28	21	12	-1	87.294674	30	28	0.378049	1	0	0	0	0	0	0	1	0	--	--		0	T			C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Silent_p.S19S|FAM181A_uc001yca.1_Silent_p.S19S	25	GBM-06-0152-TP	p.S81S	C	TGGCGTCCAGCGACATCAAGG	NM_138344	NP_612353	94394688	Q8N9Y4	F181A_HUMAN	0			3	550	+	T	T			Silent	81						
FAM181A	0	broad.mit.edu	GRCh37	14	94394937	94394937	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267594.5:c.492C>T	p.Asn164=	p.N164=	ENST00000267594	NM_138344.4	164	aaC/aaT	0			1			T	N	uc001ybz.1	protein_coding	YES	CCDS9914.1			492/1065										0	c.(490-492)AGC>AGT			Pfam_domain:PF15238	hypothetical protein LOC90050				ENSP00000267594		3-Mar									COSM3401538	3-Mar	.		ENST00000267594	Transcript						ENSG00000140067	g.chr14:94394937C>T	20491			LOW								--	--	1																																		C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Silent_p.N102N|FAM181A_uc001yca.1_Silent_p.N102N	1	1			p.S164S	NM_138344	NP_612353			1	F181A_HUMAN	FAM181A	HGNC	Q8N9Y4	F181A_HUMAN			G3V5K4_HUMAN		3	799	+			UPI00004567C0	164	N -> S (in Ref. 2; BAC04151).				SNV	FAM181A,synonymous_variant,p.=,ENST00000267594,NM_138344.4,NM_001207074.1,NM_001207073.1;FAM181A,synonymous_variant,p.=,ENST00000557000,NM_001207072.1;FAM181A,synonymous_variant,p.=,ENST00000556222,;FAM181A,synonymous_variant,p.=,ENST00000557719,NM_001207071.1;FAM181A,synonymous_variant,p.=,ENST00000554404,;FAM181A-AS1,upstream_gene_variant,,ENST00000554742,;FAM181A-AS1,upstream_gene_variant,,ENST00000554538,;FAM181A-AS1,upstream_gene_variant,,ENST00000556290,;FAM181A-AS1,upstream_gene_variant,,ENST00000555732,;	uc001ybz.1	c.492C>T	799/1816	2	2			c.492C>T						14	SNP	c.(490-492)AGC>AGT	32	32				0	Broad	hypothetical protein LOC90050			94394937		0.637	ENSG00000140067	5418	g.chr14:94394937C>T										0.964798	KEEP	2	3	-1	18	26	2	3	-1	8.140681	18	26	0.093023	1	0	0	0	0	0	0	1	0	--	--		0	T			C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Silent_p.N102N|FAM181A_uc001yca.1_Silent_p.N102N	122	GBM-12-0692-TP	p.S164S	C	TGCTGAGGAACCCCTACAGGG	NM_138344	NP_612353	94394937	Q8N9Y4	F181A_HUMAN	0			3	799	+	T	T			Silent	164	N -> S (in Ref. 2; BAC04151).					
FAM181B	220382		GRCh37	11	82443599	82443599	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000329203.3:c.1173G>A	p.Val391=	p.V391=	ENST00000329203	NM_175885.3	391	gtG/gtA	0																																																																																																																																																																																																																																												
FAM187B	0	broad.mit.edu	GRCh37	19	35718884	35718884	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-14-1823-01	TCGA-14-1823-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324675.3:c.700T>A	p.Cys234Ser	p.C234S	ENST00000324675	NM_152481.1	234	Tgt/Agt	0			1			T	C/S	uc002nyk.1	protein_coding	YES	CCDS12448.1			700/1110									ovary(2)	2	c.(700-702)TGT>AGT			hmmpanther:PTHR32178:SF4,hmmpanther:PTHR32178	family with sequence similarity 187, member B				ENSP00000323355		2-Jan									COSM3404115	2-Jan	.		ENST00000324675	Transcript				integral to membrane		ENSG00000177558	g.chr19:35718884A>T	26366			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=F187B_HUMAN&rb=119&re=296&var=C234S	NA	getma.org/?cm=var&var=hg19,19,35718884,A,T&fts=all	C234S	--	--	1																																			1	1		probably_damaging(0.999)	p.C234S	NM_152481	NP_689694		deleterious(0)	1	F187B_HUMAN	FAM187B	HGNC	Q17R55	F187B_HUMAN					1	745	-			UPI0000049306	234			Extracellular (Potential).		SNV	FAM187B,missense_variant,p.Cys234Ser,ENST00000324675,NM_152481.1;FAM187B2P,downstream_gene_variant,,ENST00000577135,;	uc002nyk.1	c.700T>A	749/1184	1	1			c.700T>A						19	SNP	c.(700-702)TGT>AGT	1	1			ovary(2)	2	Broad	family with sequence similarity 187, member B			35718884		0.507	ENSG00000177558	5422	g.chr19:35718884A>T		integral to membrane								11.701902	KEEP	3	4	-1	27	20	3	4	-1	16.797383	27	20	0.155556	1	0	0	0	0	1	0	0	0	--	--		0	T				147	GBM-14-1823-TP	p.C234S	A	CCTAAGGGACAGTCGAGCCAC	NM_152481	NP_689694	35718884	Q17R55	F187B_HUMAN	0			1	745	-	T	T			Missense_Mutation	234			Extracellular (Potential).			
FAM187B	0	broad.mit.edu	GRCh37	19	35718991	35718991	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-19-2631-01	TCGA-19-2631-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324675.3:c.593T>G	p.Val198Gly	p.V198G	ENST00000324675	NM_152481.1	198	gTg/gGg	0			1			C	V/G	uc002nyk.1	protein_coding	YES	CCDS12448.1			593/1110									ovary(2)	2	c.(592-594)GTG>GGG			hmmpanther:PTHR32178:SF4,hmmpanther:PTHR32178	family with sequence similarity 187, member B				ENSP00000323355		2-Jan									COSM3748054	2-Jan	.		ENST00000324675	Transcript				integral to membrane		ENSG00000177558	g.chr19:35718991A>C	26366			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=F187B_HUMAN&rb=119&re=296&var=V198G	NA	getma.org/?cm=var&var=hg19,19,35718991,A,C&fts=all	V198G	--	--	1																																			1	1		probably_damaging(0.978)	p.V198G	NM_152481	NP_689694		deleterious(0)	1	F187B_HUMAN	FAM187B	HGNC	Q17R55	F187B_HUMAN					1	638	-			UPI0000049306	198			Extracellular (Potential).		SNV	FAM187B,missense_variant,p.Val198Gly,ENST00000324675,NM_152481.1;FAM187B2P,downstream_gene_variant,,ENST00000577135,;	uc002nyk.1	c.593T>G	642/1184	3	3			c.593T>G						19	SNP	c.(592-594)GTG>GGG	51	51			ovary(2)	2	Broad	family with sequence similarity 187, member B			35718991		0.542	ENSG00000177558	5422	g.chr19:35718991A>C		integral to membrane								0.803138	KEEP	4	6	-1	25	26	4	6	-1	6.679783	25	26	0.108108	1	0	0	0	0	1	0	0	0	--	--		0	C				167	GBM-19-2631-TP	p.V198G	A	GCAGGCTTCCACCTGCAGCTC	NM_152481	NP_689694	35718991	Q17R55	F187B_HUMAN	0			1	638	-	C	C			Missense_Mutation	198			Extracellular (Potential).			
FAM188B	0	broad.mit.edu	GRCh37	7	30915152	30915152	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5413-01	TCGA-06-5413-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265299.6:c.1852G>A	p.Val618Ile	p.V618I	ENST00000265299	NM_032222.2	618	Gtt/Att	0	A:0.0002		1			A	V/I	uc003tbt.2	protein_coding	YES	CCDS43565.1			1852/2274										0	c.(1852-1854)GTT>ATT			Pfam_domain:PF13898,hmmpanther:PTHR12473,hmmpanther:PTHR12473:SF4	hypothetical protein LOC84182			A:0	ENSP00000265299		15/18	4.13E-05	0.000204			0.000151	3.00E-05			rs370655350,COSM1089102	15/18	.		ENST00000265299	Transcript						ENSG00000106125	g.chr7:30915152G>A	21916			MODERATE		2.705	medium	getma.org/?cm=msa&ty=f&p=F188B_HUMAN&rb=416&re=752&var=V618I	NA	getma.org/?cm=var&var=hg19,7,30915152,G,A&fts=all	V618I	--	--	1																																		FAM188B_uc010kwe.2_Missense_Mutation_p.V589I|AQP1_uc011kac.1_5'UTR|FAM188B_uc003tbu.2_Missense_Mutation_p.V138I	0,1	1		probably_damaging(0.997)	p.V618I	NM_032222	NP_115598		deleterious(0)	0,1	F188B_HUMAN	FAM188B	HGNC	Q4G0A6	F188B_HUMAN					15	1929	+			UPI0000D60E7B	618					SNV	FAM188B,missense_variant,p.Val618Ile,ENST00000265299,NM_032222.2;AQP1,missense_variant,p.Val81Ile,ENST00000509504,;AQP1,5_prime_UTR_variant,,ENST00000434909,;INMT-FAM188B,3_prime_UTR_variant,,ENST00000458257,;FAM188B,non_coding_transcript_exon_variant,,ENST00000409881,;	uc003tbt.2	c.1852G>A	1929/2733	2	2			c.1852G>A						7	SNP	c.(1852-1854)GTT>ATT	35	35				0	Broad	hypothetical protein LOC84182			30915152		0.448	ENSG00000106125	5424	g.chr7:30915152G>A										281.472491	KEEP	50	72	-1	178	191	50	72	-1	306.936571	178	191	0.25	1	0	0	0	0	1	0	0	0	--	--		0	A			FAM188B_uc010kwe.2_Missense_Mutation_p.V589I|AQP1_uc011kac.1_5'UTR|FAM188B_uc003tbu.2_Missense_Mutation_p.V138I	96	GBM-06-5413-TP	p.V618I	G	TGTGTCCAACGTTTTCAACGA	NM_032222	NP_115598	30915152	Q4G0A6	F188B_HUMAN	0			15	1929	+	A	A			Missense_Mutation	618						
FAM188B			GRCh37	7	30830978	30830978	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000265299.6:c.861C>T	p.Ala287=	p.A287=	ENST00000265299	NM_032222.2	287	gcC/gcT	0																																																																																																																																																																																																																																												
FAM193A	8603	broad.mit.edu	GRCh37	4	2661629	2661629	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0129-01	TCGA-06-0129-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324666.5:c.720C>T	p.Leu240=	p.L240=	ENST00000324666	NM_001256666.1	240	ctC/ctT	0			1			T	L	uc010icl.2	protein_coding	YES	CCDS58875.1			720/3798									ovary(3)	3	c.(718-720)CTC>CTT			hmmpanther:PTHR15109:SF2,hmmpanther:PTHR15109	hypothetical protein LOC8603				ENSP00000324587		20-Aug	8.24E-06		8.64E-05						rs758408323,COSM2149505	20-Aug	.		ENST00000324666	Transcript						ENSG00000125386	g.chr4:2661629C>T	16822			LOW								--	--	1																																		FAM193A_uc010ick.2_Silent_p.L440L|FAM193A_uc003gfd.2_Silent_p.L240L|FAM193A_uc011bvm.1_Silent_p.L264L|FAM193A_uc011bvn.1_Silent_p.L240L|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Silent_p.L94L	0,1	1			p.L240L	NM_003704	NP_003695			0,1	F193A_HUMAN	FAM193A	HGNC	P78312	F193A_HUMAN			E7EUR8_HUMAN,D6R990_HUMAN		8	1071	+			UPI0000551BCA	240					SNV	FAM193A,synonymous_variant,p.=,ENST00000324666,NM_001256666.1;FAM193A,synonymous_variant,p.=,ENST00000382839,NM_003704.3,NM_001256667.1,NM_001256668.1;FAM193A,synonymous_variant,p.=,ENST00000505311,;FAM193A,synonymous_variant,p.=,ENST00000502458,;FAM193A,synonymous_variant,p.=,ENST00000545951,;FAM193A,synonymous_variant,p.=,ENST00000513350,;FAM193A,synonymous_variant,p.=,ENST00000512465,;FAM193A,synonymous_variant,p.=,ENST00000513898,;FAM193A,non_coding_transcript_exon_variant,,ENST00000506904,;	uc010icl.2	c.720C>T	1071/4846	1	1			c.720C>T						4	SNP	c.(718-720)CTC>CTT	10	10			ovary(3)	3	Broad	hypothetical protein LOC8603			2661629		0.562	ENSG00000125386	5433	g.chr4:2661629C>T										76.956205	KEEP	19	21	-1	79	69	19	21	-1	89.976677	79	69	0.207317	1	0	0	0	0	0	0	1	0	--	--		0	T			FAM193A_uc010ick.2_Silent_p.L440L|FAM193A_uc003gfd.2_Silent_p.L240L|FAM193A_uc011bvm.1_Silent_p.L264L|FAM193A_uc011bvn.1_Silent_p.L240L|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Silent_p.L94L	15	GBM-06-0129-TP	p.L240L	C	TTCACCAGCTCCCACTTCAAG	NM_003704	NP_003695	2661629	P78312	F193A_HUMAN	0			8	1071	+	T	T			Silent	240						
FAM193A	8603	broad.mit.edu	GRCh37	4	2733554	2733554	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-6390-01	TCGA-06-6390-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324666.5:c.3757T>C	p.Ser1253Pro	p.S1253P	ENST00000324666	NM_001256666.1	1253	Tcc/Ccc	0			1			C	S/P	uc010icl.2	protein_coding	YES	CCDS58875.1			3757/3798									ovary(3)	3	c.(3757-3759)TCC>CCC			hmmpanther:PTHR15109:SF2,hmmpanther:PTHR15109	hypothetical protein LOC8603				ENSP00000324587		20/20										20/20	.		ENST00000324666	Transcript						ENSG00000125386	g.chr4:2733554T>C	16822			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=F193A_HUMAN&rb=1165&re=1265&var=S1253P	NA	getma.org/?cm=var&var=hg19,4,2733554,T,C&fts=all	S1253P	--	--	1																																		FAM193A_uc010ick.2_Missense_Mutation_p.S1412P|FAM193A_uc003gfd.2_Missense_Mutation_p.S1212P|FAM193A_uc011bvm.1_Missense_Mutation_p.S1234P|FAM193A_uc011bvn.1_3'UTR|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA		1		probably_damaging(0.981)	p.S1253P	NM_003704	NP_003695		deleterious(0)		F193A_HUMAN	FAM193A	HGNC	P78312	F193A_HUMAN			E7EUR8_HUMAN,D6R990_HUMAN		20	4108	+			UPI0000551BCA	1253					SNV	FAM193A,missense_variant,p.Ser1253Pro,ENST00000324666,NM_001256666.1;FAM193A,missense_variant,p.Ser1212Pro,ENST00000382839,NM_003704.3,NM_001256667.1,NM_001256668.1;FAM193A,missense_variant,p.Ser1234Pro,ENST00000502458,;FAM193A,3_prime_UTR_variant,,ENST00000505311,;FAM193A,3_prime_UTR_variant,,ENST00000512465,;FAM193A,3_prime_UTR_variant,,ENST00000513898,;	uc010icl.2	c.3757T>C	4108/4846	3	3			c.3757T>C						4	SNP	c.(3757-3759)TCC>CCC	54	54			ovary(3)	3	Broad	hypothetical protein LOC8603			2733554		0.517	ENSG00000125386	5433	g.chr4:2733554T>C										-35.314504	KEEP	1	2	-1	92	99	1	2	-1	6.655054	92	99	0.018634	1	0	0	0	0	1	0	0	0	--	--		0	C			FAM193A_uc010ick.2_Missense_Mutation_p.S1412P|FAM193A_uc003gfd.2_Missense_Mutation_p.S1212P|FAM193A_uc011bvm.1_Missense_Mutation_p.S1234P|FAM193A_uc011bvn.1_3'UTR|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA	106	GBM-06-6390-TP	p.S1253P	T	TATCAACTGGTCCAATTTTAG	NM_003704	NP_003695	2733554	P78312	F193A_HUMAN	0			20	4108	+	C	C			Missense_Mutation	1253						
FAM193A	0	broad.mit.edu	GRCh37	4	2692666	2692667	+	frameshift_variant	Frame_Shift_Del	DEL	CA	CA	-			TCGA-27-1835-01	TCGA-27-1835-01	CA	CA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324666.5:c.1899_1900delCA	p.Phe633LeufsTer12	p.F633Lfs*12	ENST00000324666	NM_001256666.1	633	ttCAga/ttga	0			1			-	FR/LX	uc010icl.2	protein_coding	YES	CCDS58875.1			1899-1900/3798									ovary(3)	3	c.(1897-1902)TTCAGAfs			hmmpanther:PTHR15109:SF2,hmmpanther:PTHR15109	hypothetical protein LOC8603				ENSP00000324587		13/20									COSM2157244	13/20	.		ENST00000324666	Transcript						ENSG00000125386	g.chr4:2692666_2692667delCA	16822			HIGH								--	--	1																																		FAM193A_uc010ick.2_Frame_Shift_Del_p.F833fs|FAM193A_uc003gfd.2_Frame_Shift_Del_p.F633fs|FAM193A_uc011bvm.1_Frame_Shift_Del_p.F655fs|FAM193A_uc011bvn.1_Frame_Shift_Del_p.F633fs|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Frame_Shift_Del_p.F487fs	1	1			p.F633fs	NM_003704	NP_003695			1	F193A_HUMAN	FAM193A	HGNC	P78312	F193A_HUMAN			E7EUR8_HUMAN,D6R990_HUMAN		13	2250_2251	+			UPI0000551BCA	633_634					deletion	FAM193A,frameshift_variant,p.Phe633LeufsTer12,ENST00000324666,NM_001256666.1;FAM193A,frameshift_variant,p.Phe633LeufsTer12,ENST00000382839,NM_003704.3,NM_001256667.1,NM_001256668.1;FAM193A,frameshift_variant,p.Phe633LeufsTer12,ENST00000505311,;FAM193A,frameshift_variant,p.Phe655LeufsTer12,ENST00000502458,;FAM193A,frameshift_variant,p.Phe633LeufsTer12,ENST00000545951,;FAM193A,frameshift_variant,p.Phe487LeufsTer12,ENST00000513350,;FAM193A,frameshift_variant,p.Phe633LeufsTer12,ENST00000512465,;FAM193A,frameshift_variant,p.Phe633LeufsTer12,ENST00000513898,;	uc010icl.2	c.1899_1900delCA	2250-2251/4846	5	5			c.1899_1900delCA						4	DEL	c.(1897-1902)TTCAGAfs	40	40			ovary(3)	3	Broad	hypothetical protein LOC8603			2692667		0.53	ENSG00000125386	5433	g.chr4:2692666_2692667delCA																							0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			FAM193A_uc010ick.2_Frame_Shift_Del_p.F833fs|FAM193A_uc003gfd.2_Frame_Shift_Del_p.F633fs|FAM193A_uc011bvm.1_Frame_Shift_Del_p.F655fs|FAM193A_uc011bvn.1_Frame_Shift_Del_p.F633fs|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Frame_Shift_Del_p.F487fs	194	GBM-27-1835-TP	p.F633fs	CA	ACAGCCAGTTCAGAGTGTCATC	NM_003704	NP_003695	2692666	P78312	F193A_HUMAN	0			13	2250_2251	+	-	-			Frame_Shift_Del	633_634						
FAM194A	0	broad.mit.edu	GRCh37	3	150387205	150387205	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4934-01	TCGA-76-4934-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295910.6:c.1377G>A	p.Val459=	p.V459=	ENST00000295910	NM_152394.3	459	gtG/gtA	0			1			T	V	uc003eyg.2	protein_coding	YES	CCDS3151.2			1377/1992									skin(2)|ovary(1)	3	c.(1375-1377)GTG>GTA			hmmpanther:PTHR23093:SF11,hmmpanther:PTHR23093,Pfam_domain:PF14977	hypothetical protein LOC131831				ENSP00000295910		14-Dec									COSM3408345	14-Dec	.		ENST00000295910	Transcript						ENSG00000163645	g.chr3:150387205C>T	28602			LOW								--	--	1																																		FAM194A_uc003eyh.2_Silent_p.V313V	1	1			p.V459V	NM_152394	NP_689607			1	F194A_HUMAN	FAM194A	HGNC	Q7L0X2	F194A_HUMAN					12	1434	-			UPI000023281A	459					SNV	FAM194A,synonymous_variant,p.=,ENST00000295910,NM_152394.3;FAM194A,synonymous_variant,p.=,ENST00000491361,;FAM194A,non_coding_transcript_exon_variant,,ENST00000491716,;	uc003eyg.2	c.1377G>A	1430/2052	2	2			c.1377G>A						3	SNP	c.(1375-1377)GTG>GTA	29	29			skin(2)|ovary(1)	3	Broad	hypothetical protein LOC131831			150387205		0.418	ENSG00000163645	5435	g.chr3:150387205C>T										367.740316	KEEP	76	78	-1	92	115	76	78	-1	369.495283	92	115	0.419872	1	0	0	0	0	0	0	1	0	--	--		0	T			FAM194A_uc003eyh.2_Silent_p.V313V	272	GBM-76-4934-TP	p.V459V	C	CCTTGTTGGGCACTCGAATGA	NM_152394	NP_689607	150387205	Q7L0X2	F194A_HUMAN	0			12	1434	-	T	T			Silent	459						
FAM196A	0	broad.mit.edu	GRCh37	10	128974485	128974485	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-76-4928-01	TCGA-76-4928-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000522781.1:c.175C>T	p.Gln59Ter	p.Q59*	ENST00000522781	NM_001039762.2	59	Cag/Tag	0			1			A	Q/*	uc001lju.1	protein_coding	YES	CCDS31312.1			175/1440									ovary(2)	2	c.(175-177)CAG>TAG			Pfam_domain:PF15265	hypothetical protein LOC642938				ENSP00000429763		6-Apr									COSM3396984	6-Apr	.		ENST00000522781	Transcript						ENSG00000188916	g.chr10:128974485G>A	33859			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,10,128974485,G,A&fts=all	Q59*	--	--	1																																		DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Nonsense_Mutation_p.Q59*|FAM196A_uc001ljv.1_Nonsense_Mutation_p.Q59*|FAM196A_uc009yap.1_Nonsense_Mutation_p.Q59*	1	1			p.Q59*	NM_001039762	NP_001034851			1	F196A_HUMAN	FAM196A	HGNC	Q6ZSG2	F196A_HUMAN					1	216	-			UPI00001C0E37	59					SNV	FAM196A,stop_gained,p.Gln59Ter,ENST00000522781,NM_001039762.2;FAM196A,stop_gained,p.Gln59Ter,ENST00000424811,;DOCK1,intron_variant,,ENST00000280333,NM_001380.3;	uc001lju.1	c.175C>T	731/4403	5	1			c.175C>T						10	SNP	c.(175-177)CAG>TAG	64	64			ovary(2)	2	Broad	hypothetical protein LOC642938			128974485		0.587	ENSG00000188916	5437	g.chr10:128974485G>A										-46.19205	KEEP	3	6	-1	118	131	3	6	-1	10.041471	118	131	0.030172	1	0	0	0	0	0	1	0	0	--	--		0	A			DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Nonsense_Mutation_p.Q59*|FAM196A_uc001ljv.1_Nonsense_Mutation_p.Q59*|FAM196A_uc009yap.1_Nonsense_Mutation_p.Q59*	268	GBM-76-4928-TP	p.Q59*	G	GTGTCCCTCTGCTCATTCTGT	NM_001039762	NP_001034851	128974485	Q6ZSG2	F196A_HUMAN	0			1	216	-	A	A			Nonsense_Mutation	59						
FAM198B			GRCh37	4	159052126	159052126	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000393807.5:c.1188A>G	p.Arg396=	p.R396=	ENST00000393807	NM_001031700.2	396	agA/agG	0																																																																																																																																																																																																																																												
FAM199X	0	broad.mit.edu	GRCh37	X	103434406	103434406	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-12-5295-01	TCGA-12-5295-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000493442.1:c.1114T>C	p.Ser372Pro	p.S372P	ENST00000493442	NM_207318.3	372	Tcc/Ccc	0			1			C	S/P	uc004elw.2	protein_coding	YES	CCDS35364.1			1114/1167									ovary(1)	1	c.(1114-1116)TCC>CCC			hmmpanther:PTHR32003,hmmpanther:PTHR32003:SF1	hypothetical protein LOC139231				ENSP00000417581		6-Jun									COSM3405792	6-Jun	.		ENST00000493442	Transcript						ENSG00000123575	g.chrX:103434406T>C	25195			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=F199X_HUMAN&rb=1&re=386&var=S372P	NA	getma.org/?cm=var&var=hg19,X,103434406,T,C&fts=all	S372P	--	--	1																																		FAM199X_uc004elx.2_Missense_Mutation_p.S146P	1	1		benign(0.354)	p.S372P	NM_207318	NP_997201		deleterious_low_confidence(0.01)	1	F199X_HUMAN	FAM199X	HGNC	Q6PEV8	F199X_HUMAN			B0QYU2_HUMAN		6	1280	+			UPI00001C2069	372					SNV	FAM199X,missense_variant,p.Ser372Pro,ENST00000493442,NM_207318.3;FAM199X,non_coding_transcript_exon_variant,,ENST00000299906,;	uc004elw.2	c.1114T>C	1280/7457	3	3			c.1114T>C						23	SNP	c.(1114-1116)TCC>CCC	5	5			ovary(1)	1	Broad	hypothetical protein LOC139231			103434406		0.473	ENSG00000123575	5439	g.chrX:103434406T>C										206.432819	KEEP	26	42	-1	71	71	26	42	-1	211.033797	71	71	0.335079	1	0	0	0	0	1	0	0	0	--	--		0	C			FAM199X_uc004elx.2_Missense_Mutation_p.S146P	129	GBM-12-5295-TP	p.S372P	T	AGAGGTGCTGTCCTTGAAAGT	NM_207318	NP_997201	103434406	Q6PEV8	F199X_HUMAN	0			6	1280	+	C	C			Missense_Mutation	372						
FAM19A1	0	broad.mit.edu	GRCh37	3	68466552	68466552	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2518-01	TCGA-27-2518-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000478136.1:c.241C>T	p.Arg81Trp	p.R81W	ENST00000478136	NM_213609.3	81	Cgg/Tgg	0			1			T	R/W	uc003dnd.2	protein_coding	YES	CCDS54606.1			241/402									ovary(1)	1	c.(241-243)CGG>TGG			hmmpanther:PTHR31770,hmmpanther:PTHR31770:SF2,Pfam_domain:PF12020	family with sequence similarity 19 (chemokine				ENSP00000418575		5-Mar									COSM3408867,COSM3408866	5-Mar	.		ENST00000478136	Transcript				endoplasmic reticulum|extracellular region		ENSG00000183662	g.chr3:68466552C>T	21587			MODERATE		1.495	low	getma.org/?cm=msa&ty=f&p=F19A1_HUMAN&rb=40&re=129&var=R81W	NA	getma.org/?cm=var&var=hg19,3,68466552,C,T&fts=all	R81W	--	--	1																																		FAM19A1_uc003dne.2_Missense_Mutation_p.R81W|FAM19A1_uc003dng.2_Missense_Mutation_p.R81W	1,1	1		probably_damaging(0.916)	p.R81W	NM_213609	NP_998774		deleterious(0)	1,1	F19A1_HUMAN	FAM19A1	HGNC	Q7Z5A9	F19A1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)			3	457	+		Lung NSC(201;0.0117)	UPI00001B3DB2	81					SNV	FAM19A1,missense_variant,p.Arg81Trp,ENST00000478136,NM_213609.3;FAM19A1,missense_variant,p.Arg81Trp,ENST00000496687,;FAM19A1,non_coding_transcript_exon_variant,,ENST00000491017,;	uc003dnd.2	c.241C>T	731/2014	2	2			c.241C>T						3	SNP	c.(241-243)CGG>TGG	20	20			ovary(1)	1	Broad	family with sequence similarity 19 (chemokine			68466552		0.418	ENSG00000183662	5440	g.chr3:68466552C>T		endoplasmic reticulum|extracellular region								100.991003	KEEP	18	22	-1	54	51	18	22	-1	106.474993	54	51	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	T			FAM19A1_uc003dne.2_Missense_Mutation_p.R81W|FAM19A1_uc003dng.2_Missense_Mutation_p.R81W	198	GBM-27-2518-TP	p.R81W	C	AACAAGAAACCGGCCTTCTTG	NM_213609	NP_998774	68466552	Q7Z5A9	F19A1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)	3	457	+	T	T		Lung NSC(201;0.0117)	Missense_Mutation	81						
FAM19A4			GRCh37	3	68929927	68929927	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000295569.7:c.84C>A	p.Cys28Ter	p.C28*	ENST00000295569	NM_182522.4	28	tgC/tgA	0																																																																																																																																																																																																																																												
FAM19A5	0	broad.mit.edu	GRCh37	22	49042484	49042484	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000402357.1:c.188G>A	p.Arg63Gln	p.R63Q	ENST00000402357	NM_001082967.1	63	cGg/cAg	0			1			A	R/Q	uc003bim.3	protein_coding	YES	CCDS46728.1			188/399									large_intestine(1)	1	c.(187-189)CGG>CAG			hmmpanther:PTHR31878:SF0,hmmpanther:PTHR31878,Pfam_domain:PF12020	family with sequence similarity 19 (chemokine				ENSP00000383933		4-Feb									COSM3405727,COSM3405726	4-Feb	.		ENST00000402357	Transcript				extracellular region|integral to membrane		ENSG00000219438	g.chr22:49042484G>A	21592			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=F19A5_HUMAN&rb=41&re=131&var=R63Q	NA	getma.org/?cm=var&var=hg19,22,49042484,G,A&fts=all	R63Q	--	--	1																																		FAM19A5_uc003bio.3_Missense_Mutation_p.R56Q	1,1	1		probably_damaging(0.937)	p.R63Q	NM_001082967	NP_001076436		tolerated(0.15)	1,1	F19A5_HUMAN	FAM19A5	HGNC	Q7Z5A7	F19A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)			2	305	+		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)	UPI0000074351	63					SNV	FAM19A5,missense_variant,p.Arg56Gln,ENST00000358295,NM_015381.5;FAM19A5,missense_variant,p.Arg63Gln,ENST00000402357,NM_001082967.1;FAM19A5,missense_variant,p.Arg63Gln,ENST00000336769,;FAM19A5,intron_variant,,ENST00000473898,;	uc003bim.3	c.188G>A	321/1508	2	2			c.188G>A						22	SNP	c.(187-189)CGG>CAG	27	27			large_intestine(1)	1	Broad	family with sequence similarity 19 (chemokine			49042484		0.692	ENSG00000219438	5444	g.chr22:49042484G>A		extracellular region|integral to membrane								-0.809619	KEEP	2	1	-1	27	19	2	1	-1	7.139522	27	19	0.071429	1	0	0	0	0	1	0	0	0	--	--		0	A			FAM19A5_uc003bio.3_Missense_Mutation_p.R56Q	102	GBM-06-5858-TP	p.R63Q	G	ACGATCGCCCGGCAGACCGCC	NM_001082967	NP_001076436	49042484	Q7Z5A7	F19A5_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)	2	305	+	A	A		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)	Missense_Mutation	63						
FAM208B	0	broad.mit.edu	GRCh37	10	5804609	5804609	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	A			TCGA-27-2521-01	TCGA-27-2521-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328090.5:c.7289G>A	p.Trp2430Ter	p.W2430*	ENST00000328090	NM_017782.4	2430	tGg/tAg	0			1			A	W/*	uc001iij.2	protein_coding	YES	CCDS41485.1			7289/7293									ovary(1)|central_nervous_system(1)	2	c.(7288-7290)TGG>TAG			hmmpanther:PTHR16207,hmmpanther:PTHR16207:SF10	hypothetical protein LOC54906				ENSP00000328426		20/21									COSM3397185	20/21	.		ENST00000328090	Transcript						ENSG00000108021	g.chr10:5804609G>A	23484			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,10,5804609,G,A&fts=all	W2430*	--	--	1																																		C10orf18_uc001iik.2_Nonsense_Mutation_p.W1274*	1	1			p.W2430*	NM_017782	NP_060252			1	F208B_HUMAN	FAM208B	HGNC	Q5VWN6	CJ018_HUMAN					20	7914	+			UPI00004589BB	2430					SNV	FAM208B,stop_gained,p.Trp2430Ter,ENST00000328090,NM_017782.4;GDI2,downstream_gene_variant,,ENST00000380191,NM_001494.3,NM_001115156.1;GDI2,downstream_gene_variant,,ENST00000380132,;GDI2,downstream_gene_variant,,ENST00000380181,;GDI2,downstream_gene_variant,,ENST00000447751,;GDI2,downstream_gene_variant,,ENST00000479928,;FAM208B,non_coding_transcript_exon_variant,,ENST00000459693,;FAM208B,downstream_gene_variant,,ENST00000487196,;	uc001iij.2	c.7289G>A	7914/8626	5	2			c.7289G>A						10	SNP	c.(7288-7290)TGG>TAG	44	44			ovary(1)|central_nervous_system(1)	2	Broad	hypothetical protein LOC54906			5804609		0.343	ENSG00000108021	1562	g.chr10:5804609G>A										-74.718104	KEEP	3	2	-1	182	168	3	2	-1	8.95135	182	168	0.015873	1	0	0	0	0	0	1	0	0	--	--		0	A			C10orf18_uc001iik.2_Nonsense_Mutation_p.W1274*	200	GBM-27-2521-TP	p.W2430*	G	AGTAGCTATTGGTAAGAACAC	NM_017782	NP_060252	5804609	Q5VWN6	CJ018_HUMAN	0			20	7914	+	A	A			Nonsense_Mutation	2430						
FAM20A	0	broad.mit.edu	GRCh37	17	66551780	66551780	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4208-01	TCGA-32-4208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000592554.1:c.509G>A	p.Arg170His	p.R170H	ENST00000592554	NM_001243746.1	170	cGc/cAc	0		T:0	1	T:0		T	R/H	uc002jho.2	protein_coding	YES	CCDS11679.1			509/1626										0	c.(508-510)CGC>CAC			hmmpanther:PTHR12450:SF12,hmmpanther:PTHR12450	family with sequence similarity 20, member A		T:0.001		ENSP00000468308	T:0	11-Feb	3.29E-05			0.000116		1.50E-05		0.000121	rs200466905,COSM3403149	11-Feb	.		ENST00000592554	Transcript	1	T:0.0002		extracellular region		ENSG00000108950	g.chr17:66551780C>T	23015			MODERATE		2.435	medium	getma.org/?cm=msa&ty=f&p=FA20A_HUMAN&rb=38&re=237&var=R170H	NA	getma.org/?cm=var&var=hg19,17,66551780,C,T&fts=all	R170H	--	--	1																																		FAM20A_uc010wqp.1_Missense_Mutation_p.R32H|FAM20A_uc002jhn.2_5'UTR	0,1	1		possibly_damaging(0.861)	p.R170H	NM_017565	NP_060035	T:0	deleterious(0)	0,1	FA20A_HUMAN	FAM20A	HGNC	Q96MK3	FA20A_HUMAN			L8B8N7_HUMAN		2	797	-	Breast(10;1.64e-13)		UPI00001AE65B	170					SNV	FAM20A,missense_variant,p.Arg170His,ENST00000592554,NM_001243746.1,NM_017565.3;PRKAR1A,downstream_gene_variant,,ENST00000588188,NM_001276290.1;RP11-120M18.5,upstream_gene_variant,,ENST00000589826,;FAM20A,non_coding_transcript_exon_variant,,ENST00000226094,;FAM20A,non_coding_transcript_exon_variant,,ENST00000592847,;FAM20A,3_prime_UTR_variant,,ENST00000590074,;	uc002jho.2	c.509G>A	1232/2955	2	2			c.509G>A						17	SNP	c.(508-510)CGC>CAC	46	46				0	Broad	family with sequence similarity 20, member A			66551780		0.562	ENSG00000108950	5445	g.chr17:66551780C>T		extracellular region								170.98944	KEEP	32	33	-1	56	54	32	33	-1	172.327739	56	54	0.401274	1	0	0	0	0	1	0	0	0	--	--		0	T			FAM20A_uc010wqp.1_Missense_Mutation_p.R32H|FAM20A_uc002jhn.2_5'UTR	243	GBM-32-4208-TP	p.R170H	C	GAGCCCATGGCGGTTAATACC	NM_017565	NP_060035	66551780	Q96MK3	FA20A_HUMAN	0			2	797	-	T	T	Breast(10;1.64e-13)		Missense_Mutation	170						
FAM211A	0	broad.mit.edu	GRCh37	17	16347362	16347362	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000470794.1:c.575G>A	p.Arg192Gln	p.R192Q	ENST00000470794	NM_001113567.2	192	cGg/cAg	0			1			T	R/Q	uc010cph.1	protein_coding	YES	CCDS45620.1			575/1035										0	c.(574-576)CGG>CAG			Gene3D:3.80.10.10,Superfamily_domains:SSF52047	hypothetical protein LOC388341 isoform 1				ENSP00000419502		4-Apr	8.24E-06					1.63E-05			rs775338348,COSM3402629,COSM3402627,COSM3402628	4-Apr	.		ENST00000470794	Transcript						ENSG00000181350	g.chr17:16347362C>T	32403			MODERATE								--	--	1																																		C17orf76_uc002gqh.2_Silent_p.A153A|NCRNA00188_uc010vwl.1_Intron|NCRNA00188_uc010vwm.1_Intron|NCRNA00188_uc010vwn.1_Intron|NCRNA00188_uc010cpe.2_Intron|NCRNA00188_uc010vwo.1_Intron|NCRNA00188_uc010vwp.1_Intron|C17orf76_uc002gqg.1_3'UTR	0,1,1,1	1		benign(0.32)	p.R192Q	NM_001113567	NP_001107039		deleterious(0.05)	0,1,1,1	F211A_HUMAN	FAM211A	HGNC	Q8NAA5	CQ076_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)			4	751	-			UPI0000200A49	192					SNV	FAM211A,missense_variant,p.Arg192Gln,ENST00000470794,NM_001113567.2;FAM211A,synonymous_variant,p.=,ENST00000409083,NM_207387.3;FAM211A-AS1,intron_variant,,ENST00000581361,;FAM211A-AS1,intron_variant,,ENST00000483588,;RP11-138I1.3,upstream_gene_variant,,ENST00000585048,;FAM211A-AS1,downstream_gene_variant,,ENST00000391079,NR_003054.1;FAM211A-AS1,downstream_gene_variant,,ENST00000365172,;FAM211A-AS1,downstream_gene_variant,,ENST00000384229,NR_002744.1;FAM211A-AS1,intron_variant,,ENST00000472367,;FAM211A-AS1,intron_variant,,ENST00000583400,;FAM211A-AS1,intron_variant,,ENST00000478103,;FAM211A-AS1,intron_variant,,ENST00000579473,;FAM211A-AS1,intron_variant,,ENST00000581718,;FAM211A-AS1,intron_variant,,ENST00000584177,;FAM211A-AS1,intron_variant,,ENST00000580770,;FAM211A-AS1,downstream_gene_variant,,ENST00000475953,;FAM211A-AS1,downstream_gene_variant,,ENST00000581913,;FAM211A-AS1,downstream_gene_variant,,ENST00000470491,;FAM211A-AS1,downstream_gene_variant,,ENST00000481027,;FAM211A-AS1,downstream_gene_variant,,ENST00000481898,;FAM211A-AS1,downstream_gene_variant,,ENST00000480811,;FAM211A-AS1,downstream_gene_variant,,ENST00000483140,;FAM211A-AS1,downstream_gene_variant,,ENST00000477249,;FAM211A-AS1,downstream_gene_variant,,ENST00000582911,;FAM211A-AS1,downstream_gene_variant,,ENST00000491009,;FAM211A-AS1,downstream_gene_variant,,ENST00000484836,;FAM211A-AS1,downstream_gene_variant,,ENST00000460249,;FAM211A-AS1,downstream_gene_variant,,ENST00000487066,;FAM211A-AS1,downstream_gene_variant,,ENST00000580180,;FAM211A-AS1,downstream_gene_variant,,ENST00000584926,;FAM211A-AS1,downstream_gene_variant,,ENST00000475947,;FAM211A-AS1,downstream_gene_variant,,ENST00000492250,;FAM211A-AS1,downstream_gene_variant,,ENST00000584141,;FAM211A-AS1,downstream_gene_variant,,ENST00000578380,;FAM211A,non_coding_transcript_exon_variant,,ENST00000409887,;FAM211A-AS1,downstream_gene_variant,,ENST00000497774,;FAM211A-AS1,downstream_gene_variant,,ENST00000578757,;	uc010cph.1	c.575G>A	603/1390	2	2			c.575G>A						17	SNP	c.(574-576)CGG>CAG	42	42				0	Broad	hypothetical protein LOC388341 isoform 1			16347362		0.632	ENSG00000181350	1839	g.chr17:16347362C>T										104.437901	KEEP	12	19	-1	8	7	12	19	-1	106.083995	8	7	0.704545	1	0	0	0	0	1	0	0	0	--	--		0	T			C17orf76_uc002gqh.2_Silent_p.A153A|NCRNA00188_uc010vwl.1_Intron|NCRNA00188_uc010vwm.1_Intron|NCRNA00188_uc010vwn.1_Intron|NCRNA00188_uc010cpe.2_Intron|NCRNA00188_uc010vwo.1_Intron|NCRNA00188_uc010vwp.1_Intron|C17orf76_uc002gqg.1_3'UTR	102	GBM-06-5858-TP	p.R192Q	C	GCTGGTCACCCGCTCCAGGTC	NM_001113567	NP_001107039	16347362	Q8NAA5	CQ076_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)	4	751	-	T	T			Missense_Mutation	192						
ATOSA	0	broad.mit.edu	GRCh37	15	52902145	52902145	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-26-1439-01	TCGA-26-1439-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261844.7:c.966T>C	p.Gly322=	p.G322=	ENST00000261844	NM_019600.2	322	ggT/ggC	0			1			G	G	uc002acg.3	protein_coding	YES	CCDS45263.1			966/3231										0	c.(964-966)GGT>GGC			hmmpanther:PTHR13199,hmmpanther:PTHR13199:SF13	hypothetical protein LOC56204				ENSP00000261844		13-Jun	8.28E-06					1.68E-05			rs772769653,COSM3401821	13-Jun	.		ENST00000261844	Transcript						ENSG00000047346	g.chr15:52902145A>G	25609			LOW								--	--	1																																		KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Silent_p.G234G|KIAA1370_uc010ugf.1_Silent_p.G329G	0,1	1			p.G322G	NM_019600	NP_062546			0,1	F214A_HUMAN	FAM214A	HGNC	Q32MH5	K1370_HUMAN		all cancers(107;0.0803)	Q6DKH7_HUMAN,Q658Z0_HUMAN,H3BUJ2_HUMAN,H3BU00_HUMAN,H3BTD0_HUMAN,H3BSJ2_HUMAN,H3BQ29_HUMAN,H0Y3Q9_HUMAN		6	1119	-			UPI00001C1F8D	322					SNV	FAM214A,synonymous_variant,p.=,ENST00000261844,NM_019600.2;FAM214A,synonymous_variant,p.=,ENST00000546305,NM_001286495.1;FAM214A,synonymous_variant,p.=,ENST00000399202,;FAM214A,downstream_gene_variant,,ENST00000561543,;FAM214A,downstream_gene_variant,,ENST00000562135,;FAM214A,downstream_gene_variant,,ENST00000566768,;FAM214A,downstream_gene_variant,,ENST00000561490,;FAM214A,downstream_gene_variant,,ENST00000568863,;FAM214A,synonymous_variant,p.=,ENST00000534964,;FAM214A,upstream_gene_variant,,ENST00000566948,;FAM214A,upstream_gene_variant,,ENST00000568668,;FAM214A,upstream_gene_variant,,ENST00000570204,;	uc002acg.3	c.966T>C	1119/4217	3	3			c.966T>C						15	SNP	c.(964-966)GGT>GGC	61	61				0	Broad	hypothetical protein LOC56204			52902145		0.383	ENSG00000047346	8087	g.chr15:52902145A>G										5.041501	KEEP	0	2	-1	12	10	0	2	-1	6.761033	12	10	0.142857	1	0	0	0	0	0	0	1	0	--	--		0	G			KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Silent_p.G234G|KIAA1370_uc010ugf.1_Silent_p.G329G	179	GBM-26-1439-TP	p.G322G	A	TATCACCTATACCACTAAAGC	NM_019600	NP_062546	52902145	Q32MH5	K1370_HUMAN	0		all cancers(107;0.0803)	6	1119	-	G	G			Silent	322						
ATOSB	0	broad.mit.edu	GRCh37	9	35108015	35108015	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322813.5:c.257G>A	p.Gly86Glu	p.G86E	ENST00000322813	NM_025182.2	86	gGg/gAg	0			1			T	G/E	uc003zwl.2	protein_coding		CCDS6578.1			257/1617									ovary(2)	2	c.(256-258)GGG>GAG			hmmpanther:PTHR13199,hmmpanther:PTHR13199:SF12	hypothetical protein LOC80256				ENSP00000319897		9-Mar									COSM2154797	9-Mar	.		ENST00000322813	Transcript				nucleus		ENSG00000005238	g.chr9:35108015C>T	25666			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=F214B_HUMAN&rb=1&re=200&var=G86E	NA	getma.org/?cm=var&var=hg19,9,35108015,C,T&fts=all	G86E	--	--	1																																		KIAA1539_uc003zwm.2_Missense_Mutation_p.G86E|KIAA1539_uc003zwn.2_Intron|KIAA1539_uc003zwo.2_Missense_Mutation_p.G86E|KIAA1539_uc003zwp.1_Missense_Mutation_p.G86E|KIAA1539_uc010mkk.1_Intron	1			probably_damaging(0.92)	p.G86E	NM_025182	NP_079458		tolerated(0.17)	1	F214B_HUMAN	FAM214B	HGNC	Q7L5A3	K1539_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)				3	582	-	all_epithelial(49;0.217)		UPI0000169E3E	86					SNV	FAM214B,missense_variant,p.Gly86Glu,ENST00000378561,;FAM214B,missense_variant,p.Gly86Glu,ENST00000603301,;FAM214B,missense_variant,p.Gly86Glu,ENST00000378557,;FAM214B,missense_variant,p.Gly86Glu,ENST00000322813,NM_025182.2;FAM214B,missense_variant,p.Gly86Glu,ENST00000605244,;FAM214B,missense_variant,p.Gly86Glu,ENST00000488109,;FAM214B,missense_variant,p.Gly86Glu,ENST00000378554,;FAM214B,intron_variant,,ENST00000378566,;STOML2,upstream_gene_variant,,ENST00000356493,NM_013442.1,NM_001287032.1;STOML2,upstream_gene_variant,,ENST00000452248,NM_001287031.1;FAM214B,downstream_gene_variant,,ENST00000605392,;FAM214B,downstream_gene_variant,,ENST00000605104,;	uc003zwl.2	c.257G>A	568/3028	2	2			c.257G>A						9	SNP	c.(256-258)GGG>GAG	39	39			ovary(2)	2	Broad	hypothetical protein LOC80256			35108015		0.637	ENSG00000005238	8103	g.chr9:35108015C>T		nucleus								154.964857	KEEP	28	29	-1	44	29	28	29	-1	155.452738	44	29	0.429825	1	0	0	0	0	1	0	0	0	--	--		0	T			KIAA1539_uc003zwm.2_Missense_Mutation_p.G86E|KIAA1539_uc003zwn.2_Intron|KIAA1539_uc003zwo.2_Missense_Mutation_p.G86E|KIAA1539_uc003zwp.1_Missense_Mutation_p.G86E|KIAA1539_uc010mkk.1_Intron	139	GBM-14-0817-TP	p.G86E	C	CTCTCTGGCCCCCAGCCCAGG	NM_025182	NP_079458	35108015	Q7L5A3	K1539_HUMAN	0	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		3	582	-	T	T	all_epithelial(49;0.217)		Missense_Mutation	86						
ATOSB	0	broad.mit.edu	GRCh37	9	35108147	35108147	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1836-01	TCGA-27-1836-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322813.5:c.125C>T	p.Ala42Val	p.A42V	ENST00000322813	NM_025182.2	42	gCg/gTg	0			1			A	A/V	uc003zwl.2	protein_coding		CCDS6578.1			125/1617									ovary(2)	2	c.(124-126)GCG>GTG			hmmpanther:PTHR13199,hmmpanther:PTHR13199:SF12	hypothetical protein LOC80256				ENSP00000319897		9-Mar									COSM3413637	9-Mar	.		ENST00000322813	Transcript				nucleus		ENSG00000005238	g.chr9:35108147G>A	25666			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=F214B_HUMAN&rb=1&re=200&var=A42V	NA	getma.org/?cm=var&var=hg19,9,35108147,G,A&fts=all	A42V	--	--	1																																		KIAA1539_uc003zwm.2_Missense_Mutation_p.A42V|KIAA1539_uc003zwn.2_5'UTR|KIAA1539_uc003zwo.2_Missense_Mutation_p.A42V|KIAA1539_uc003zwp.1_Missense_Mutation_p.A42V|KIAA1539_uc010mkk.1_RNA	1			benign(0)	p.A42V	NM_025182	NP_079458		tolerated_low_confidence(0.7)	1	F214B_HUMAN	FAM214B	HGNC	Q7L5A3	K1539_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)				3	450	-	all_epithelial(49;0.217)		UPI0000169E3E	42					SNV	FAM214B,missense_variant,p.Ala42Val,ENST00000378561,;FAM214B,missense_variant,p.Ala42Val,ENST00000603301,;FAM214B,missense_variant,p.Ala42Val,ENST00000378557,;FAM214B,missense_variant,p.Ala42Val,ENST00000322813,NM_025182.2;FAM214B,missense_variant,p.Ala42Val,ENST00000605244,;FAM214B,missense_variant,p.Ala42Val,ENST00000488109,;FAM214B,missense_variant,p.Ala42Val,ENST00000378554,;FAM214B,5_prime_UTR_variant,,ENST00000378566,;STOML2,upstream_gene_variant,,ENST00000356493,NM_013442.1,NM_001287032.1;FAM214B,downstream_gene_variant,,ENST00000605392,;FAM214B,downstream_gene_variant,,ENST00000605104,;	uc003zwl.2	c.125C>T	436/3028	2	2			c.125C>T						9	SNP	c.(124-126)GCG>GTG	48	48			ovary(2)	2	Broad	hypothetical protein LOC80256			35108147		0.652	ENSG00000005238	8103	g.chr9:35108147G>A		nucleus								35.737347	KEEP	8	7	-1	10	12	8	7	-1	35.969783	10	12	0.411765	1	0	0	0	0	1	0	0	0	--	--		0	A			KIAA1539_uc003zwm.2_Missense_Mutation_p.A42V|KIAA1539_uc003zwn.2_5'UTR|KIAA1539_uc003zwo.2_Missense_Mutation_p.A42V|KIAA1539_uc003zwp.1_Missense_Mutation_p.A42V|KIAA1539_uc010mkk.1_RNA	195	GBM-27-1836-TP	p.A42V	G	GGGGGATGTCGCCCCCCCTGC	NM_025182	NP_079458	35108147	Q7L5A3	K1539_HUMAN	0	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		3	450	-	A	A	all_epithelial(49;0.217)		Missense_Mutation	42						
FAM217A	0	broad.mit.edu	GRCh37	6	4068936	4068938	+	inframe_deletion	In_Frame_Del	DEL	TTG	TTG	-			TCGA-19-1790-01	TCGA-19-1790-01	TTG	TTG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274673.3:c.1519_1521delCAA	p.Gln507del	p.Q507del	ENST00000274673	NM_173563.2	507	CAA/-	0			1			-	Q/-	uc003mvx.2	protein_coding	YES	CCDS4489.1			1519-1521/1527									ovary(1)	1	c.(1519-1521)CAAdel			hmmpanther:PTHR22145,hmmpanther:PTHR22145:SF4	hypothetical protein LOC222826				ENSP00000274673		7-Jul									COSM2156085	7-Jul	.		ENST00000274673	Transcript						ENSG00000145975	g.chr6:4068936_4068938delTTG	21362			MODERATE								--	--	1																																		C6orf146_uc010jnq.1_Intron|C6orf146_uc003mvy.2_In_Frame_Del_p.Q444del	1	1			p.Q507del	NM_173563	NP_775834			1	F217A_HUMAN	FAM217A	HGNC	Q8IXS0	CF146_HUMAN			C9J6U0_HUMAN,C9J5H0_HUMAN		7	1859_1861	-	Ovarian(93;0.0925)	all_hematologic(90;0.108)	UPI0000160AA7	507					deletion	FAM217A,inframe_deletion,p.Gln507del,ENST00000274673,NM_173563.2;FAM217A,downstream_gene_variant,,ENST00000492651,;FAM217A,downstream_gene_variant,,ENST00000498677,;FAM217A,non_coding_transcript_exon_variant,,ENST00000380188,;FAM217A,intron_variant,,ENST00000469157,;PRPF4B,downstream_gene_variant,,ENST00000461612,;FAM217A,downstream_gene_variant,,ENST00000478714,;PRPF4B,downstream_gene_variant,,ENST00000480058,;PRPF4B,downstream_gene_variant,,ENST00000463634,;PRPF4B,downstream_gene_variant,,ENST00000481109,;	uc003mvx.2	c.1519_1521delCAA	1923-1925/2265	5	5			c.1519_1521delCAA						6	DEL	c.(1519-1521)CAAdel	6	6			ovary(1)	1	Broad	hypothetical protein LOC222826			4068938		0.36	ENSG00000145975	2287	g.chr6:4068936_4068938delTTG																							0.3	1	1	0	1	0	0	0	0	0	--	--		0	-			C6orf146_uc010jnq.1_Intron|C6orf146_uc003mvy.2_In_Frame_Del_p.Q444del	160	GBM-19-1790-TP	p.Q507del	TTG	AGAGTTATTTTTGTTCAATGGGT	NM_173563	NP_775834	4068936	Q8IXS0	CF146_HUMAN	0			7	1859_1861	-	-	-	Ovarian(93;0.0925)	all_hematologic(90;0.108)	In_Frame_Del	507						
FAM219B	57184		GRCh37	15	75198690	75198690	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000357635.5:c.231G>A	p.Leu77=	p.L77=	ENST00000357635	NM_020447.3	77	ctG/ctA	0																																																																																																																																																																																																																																												
FAM21C	0	broad.mit.edu	GRCh37	10	46265058	46265058	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0192-01	TCGA-06-0192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374362.2:c.2031C>T	p.Ala677=	p.A677=	ENST00000374362		677	gcC/gcT	0			1			T	A	uc001jcu.2	protein_coding	YES	CCDS44374.2			2031/3963									ovary(1)	1	c.(2029-2031)GCC>GCT			hmmpanther:PTHR21669:SF4,hmmpanther:PTHR21669	hypothetical protein LOC253725				ENSP00000363482		20/30									COSM3397132	20/30	.		ENST00000374362	Transcript						ENSG00000172661	g.chr10:46265058C>T	23414			LOW								--	--	1																																		FAM21C_uc001jcs.1_Silent_p.A620A|FAM21C_uc001jct.2_Silent_p.A675A|FAM21C_uc010qfi.1_Silent_p.A653A|FAM21C_uc010qfj.1_5'UTR|FAM21C_uc010qfk.1_5'UTR	1	1			p.A677A	NM_015262	NP_056077			1	FA21C_HUMAN	FAM21C	HGNC	A8K5W5	A8K5W5_HUMAN					20	2130	+			UPI0000551BE9	677					SNV	FAM21C,synonymous_variant,p.=,ENST00000336378,NM_015262.2;FAM21C,synonymous_variant,p.=,ENST00000374362,;FAM21C,synonymous_variant,p.=,ENST00000540872,NM_001169106.1;FAM21C,synonymous_variant,p.=,ENST00000359860,;FAM21C,synonymous_variant,p.=,ENST00000537517,NM_001169107.1;	uc001jcu.2	c.2031C>T	2130/4623	1	1			c.2031C>T						10	SNP	c.(2029-2031)GCC>GCT	4	4			ovary(1)	1	Broad	hypothetical protein LOC253725			46265058		0.478	ENSG00000172661	5448	g.chr10:46265058C>T										89.493924	KEEP	31	23	-1	140	149	31	23	-1	121.858933	140	149	0.161616	1	0	0	0	0	0	0	1	0	--	--		0	T			FAM21C_uc001jcs.1_Silent_p.A620A|FAM21C_uc001jct.2_Silent_p.A675A|FAM21C_uc010qfi.1_Silent_p.A653A|FAM21C_uc010qfj.1_5'UTR|FAM21C_uc010qfk.1_5'UTR	44	GBM-06-0192-TP	p.A677A	C	TTGCCATTGCCAAGGACAGGT	NM_015262	NP_056077	46265058	A8K5W5	A8K5W5_HUMAN	0			20	2130	+	T	T			Silent	677						
FAM32A	0	broad.mit.edu	GRCh37	19	16301334	16301334	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-41-2572-01	TCGA-41-2572-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263384.7:c.220A>G	p.Met74Val	p.M74V	ENST00000263384	NM_014077.2	74	Atg/Gtg	0			1			G	M/V	uc002ndt.2	protein_coding	YES	CCDS12341.1			220/339										0	c.(220-222)ATG>GTG			hmmpanther:PTHR13282	hypothetical protein LOC26017				ENSP00000263384		4-Mar									COSM3403891	4-Mar	.		ENST00000263384	Transcript				nucleolus		ENSG00000105058	g.chr19:16301334A>G	24563			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=FA32A_HUMAN&rb=57&re=112&var=M74V	NA	getma.org/?cm=var&var=hg19,19,16301334,A,G&fts=all	M74V	--	--	1																																			1	1		benign(0.006)	p.M74V	NM_014077	NP_054796		tolerated(0.21)	1	FA32A_HUMAN	FAM32A	HGNC	Q9Y421	FA32A_HUMAN					3	239	+			UPI0000073135	74			Lys-rich.		SNV	FAM32A,missense_variant,p.Met74Val,ENST00000263384,NM_014077.2;FAM32A,missense_variant,p.Met54Val,ENST00000589852,;FAM32A,intron_variant,,ENST00000588367,;FAM32A,downstream_gene_variant,,ENST00000587351,;CTD-2562J15.4,upstream_gene_variant,,ENST00000591038,;FAM32A,3_prime_UTR_variant,,ENST00000585831,;	uc002ndt.2	c.220A>G	245/1455	3	3			c.220A>G						19	SNP	c.(220-222)ATG>GTG	4	4				0	Broad	hypothetical protein LOC26017			16301334		0.562	ENSG00000105058	5458	g.chr19:16301334A>G		nucleolus								57.087615	KEEP	11	5	-1	19	14	11	5	-1	58.027183	19	14	0.347826	1	0	0	0	0	1	0	0	0	--	--		0	G				251	GBM-41-2572-TP	p.M74V	A	TCTCCAGCAAATGGAAAGGAT	NM_014077	NP_054796	16301334	Q9Y421	FA32A_HUMAN	0			3	239	+	G	G			Missense_Mutation	74			Lys-rich.			
FAM3B	54097		GRCh37	21	42720528	42720528	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000357985.2:c.495C>T	p.Asn165=	p.N165=	ENST00000357985	NM_058186.3	165	aaC/aaT	0																																																																																																																																																																																																																																												
FAM46C	0	broad.mit.edu	GRCh37	1	118166248	118166248	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01	TCGA-06-0214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369448.3:c.758G>A	p.Arg253Gln	p.R253Q	ENST00000369448	NM_017709.3	253	cGg/cAg	0			1			A	R/Q	uc001ehe.2	protein_coding	YES	CCDS896.1			758/1176										0	c.(757-759)CGG>CAG			Pfam_domain:PF07984,hmmpanther:PTHR12974,hmmpanther:PTHR12974:SF34	hypothetical protein LOC54855				ENSP00000358458		2-Feb	8.24E-06					1.51E-05			rs779467652,COSM1333139	2-Feb	.		ENST00000369448	Transcript						ENSG00000183508	g.chr1:118166248G>A	24712			MODERATE		2.435	medium	getma.org/?cm=msa&ty=f&p=FA46C_HUMAN&rb=17&re=336&var=R253Q	NA	getma.org/?cm=var&var=hg19,1,118166248,G,A&fts=all	R253Q	--	--	1				Multiple Myeloma(3;1.13e-06)																															0,1	1		probably_damaging(0.992)	p.R253Q	NM_017709	NP_060179		deleterious(0.02)	0,1	FA46C_HUMAN	FAM46C	HGNC	Q5VWP2	FA46C_HUMAN		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)			2	957	+	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)	UPI0000070C6C	253					SNV	FAM46C,missense_variant,p.Arg253Gln,ENST00000369448,NM_017709.3;	uc001ehe.2	c.758G>A	1005/5751	2	2			c.758G>A						1	SNP	c.(757-759)CGG>CAG	34	34				0	Broad	hypothetical protein LOC54855			118166248		0.517	ENSG00000183508	5472	g.chr1:118166248G>A										-2.84993	KEEP	5	4	-1	61	45	5	4	-1	17.528733	61	45	0.073394	1	0	0	0	0	1	0	0	0	--	--	Multiple Myeloma(3;1.13e-06)	0	A				50	GBM-06-0214-TP	p.R253Q	G	CTTCTTGTGCGGGACTTCAGG	NM_017709	NP_060179	118166248	Q5VWP2	FA46C_HUMAN	0		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)	2	957	+	A	A	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)	Missense_Mutation	253						
FAM46C	0	broad.mit.edu	GRCh37	1	118165644	118165644	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01	TCGA-06-0241-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369448.3:c.154G>A	p.Val52Ile	p.V52I	ENST00000369448	NM_017709.3	52	Gtc/Atc	0		A:0	1	A:0		A	V/I	uc001ehe.2	protein_coding	YES	CCDS896.1			154/1176										0	c.(154-156)GTC>ATC			Pfam_domain:PF07984,hmmpanther:PTHR12974,hmmpanther:PTHR12974:SF34	hypothetical protein LOC54855		A:0		ENSP00000358458	A:0	2-Feb	7.41E-05		8.64E-05					0.000484	rs538766512,COSM894529	2-Feb	common_variant		ENST00000369448	Transcript		A:0.0002				ENSG00000183508	g.chr1:118165644G>A	24712			MODERATE		0.755	neutral	getma.org/?cm=msa&ty=f&p=FA46C_HUMAN&rb=17&re=336&var=V52I	NA	getma.org/?cm=var&var=hg19,1,118165644,G,A&fts=all	V52I	--	--	1				Multiple Myeloma(3;1.13e-06)																															0,1	1		possibly_damaging(0.766)	p.V52I	NM_017709	NP_060179	A:0.001	tolerated(0.65)	0,1	FA46C_HUMAN	FAM46C	HGNC	Q5VWP2	FA46C_HUMAN		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)			2	353	+	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)	UPI0000070C6C	52					SNV	FAM46C,missense_variant,p.Val52Ile,ENST00000369448,NM_017709.3;	uc001ehe.2	c.154G>A	401/5751	1	1			c.154G>A						1	SNP	c.(154-156)GTC>ATC	59	59				0	Broad	hypothetical protein LOC54855			118165644		0.567	ENSG00000183508	5472	g.chr1:118165644G>A										133.999579	KEEP	23	29	-1	37	39	23	29	-1	134.450813	37	39	0.431193	1	0	0	0	0	1	0	0	0	--	--	Multiple Myeloma(3;1.13e-06)	0	A				57	GBM-06-0241-TP	p.V52I	G	GAAGGACATCGTCCAGACCGT	NM_017709	NP_060179	118165644	Q5VWP2	FA46C_HUMAN	0		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)	2	353	+	A	A	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)	Missense_Mutation	52						
FAM46C	0	broad.mit.edu	GRCh37	1	118166577	118166577	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01	TCGA-16-1045-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369448.3:c.1087G>A	p.Val363Ile	p.V363I	ENST00000369448	NM_017709.3	363	Gtc/Atc	0			1			A	V/I	uc001ehe.2	protein_coding	YES	CCDS896.1			1087/1176										0	c.(1087-1089)GTC>ATC			hmmpanther:PTHR12974,hmmpanther:PTHR12974:SF34	hypothetical protein LOC54855				ENSP00000358458		2-Feb	1.65E-05		8.76E-05			1.51E-05			rs773285739,COSM2179010	2-Feb	.		ENST00000369448	Transcript						ENSG00000183508	g.chr1:118166577G>A	24712			MODERATE		1.17	low	getma.org/?cm=msa&ty=f&p=FA46C_HUMAN&rb=337&re=391&var=V363I	NA	getma.org/?cm=var&var=hg19,1,118166577,G,A&fts=all	V363I	--	--	1				Multiple Myeloma(3;1.13e-06)																															0,1	1		benign(0.002)	p.V363I	NM_017709	NP_060179		tolerated(0.26)	0,1	FA46C_HUMAN	FAM46C	HGNC	Q5VWP2	FA46C_HUMAN		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)			2	1286	+	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)	UPI0000070C6C	363					SNV	FAM46C,missense_variant,p.Val363Ile,ENST00000369448,NM_017709.3;	uc001ehe.2	c.1087G>A	1334/5751	2	2			c.1087G>A						1	SNP	c.(1087-1089)GTC>ATC	33	33				0	Broad	hypothetical protein LOC54855			118166577		0.557	ENSG00000183508	5472	g.chr1:118166577G>A										38.432591	KEEP	6	10	-1	23	14	6	10	-1	40.148653	23	14	0.297872	1	0	0	0	0	1	0	0	0	--	--	Multiple Myeloma(3;1.13e-06)	0	A				157	GBM-16-1045-TP	p.V363I	G	GGCCCCTTACGTCAGTGATGG	NM_017709	NP_060179	118166577	Q5VWP2	FA46C_HUMAN	0		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)	2	1286	+	A	A	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)	Missense_Mutation	363						
FAM47A	158724	broad.mit.edu	GRCh37	X	34150200	34150200	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000346193.3:c.196G>A	p.Glu66Lys	p.E66K	ENST00000346193	NM_203408.3	66	Gaa/Aaa	0			1			T	E/K	uc004ddg.2	protein_coding	YES	CCDS43926.1			196/2376									ovary(4)|central_nervous_system(1)	5	c.(196-198)GAA>AAA			hmmpanther:PTHR23213:SF200,hmmpanther:PTHR23213,Pfam_domain:PF14642	hypothetical protein LOC158724				ENSP00000345029		1-Jan									COSM256915	1-Jan	.		ENST00000346193	Transcript						ENSG00000185448	g.chrX:34150200C>T	29962			MODERATE		1.465	low	getma.org/?cm=msa&ty=f&p=FA47A_HUMAN&rb=1&re=169&var=E66K	NA	getma.org/?cm=var&var=hg19,X,34150200,C,T&fts=all	E66K	--	--	1																																			1	1		probably_damaging(0.921)	p.E66K	NM_203408	NP_981953		tolerated(0.07)	1	FA47A_HUMAN	FAM47A	HGNC	Q5JRC9	FA47A_HUMAN					1	229	-			UPI000013F1F4	66					SNV	FAM47A,missense_variant,p.Glu66Lys,ENST00000346193,NM_203408.3;	uc004ddg.2	c.196G>A	248/2579	2	2			c.196G>A						23	SNP	c.(196-198)GAA>AAA	43	43			ovary(4)|central_nervous_system(1)	5	Broad	hypothetical protein LOC158724			34150200		0.552	ENSG00000185448	5474	g.chrX:34150200C>T										175.591037	KEEP	35	33	-1	39	54	35	33	-1	175.855347	39	54	0.451852	1	0	0	0	0	1	0	0	0	--	--		0	T				12	GBM-06-0125-TP	p.E66K	C	AGAGTATCTTCGGGAGACGGA	NM_203408	NP_981953	34150200	Q5JRC9	FA47A_HUMAN	0			1	229	-	T	T			Missense_Mutation	66						
FAM47A	158724	broad.mit.edu	GRCh37	X	34149408	34149408	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-5859-01	TCGA-06-5859-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000346193.3:c.988C>A	p.Pro330Thr	p.P330T	ENST00000346193	NM_203408.3	330	Ccg/Acg	0			1			T	P/T	uc004ddg.2	protein_coding	YES	CCDS43926.1			988/2376									ovary(4)|central_nervous_system(1)	5	c.(988-990)CCG>ACG			hmmpanther:PTHR23213:SF200,hmmpanther:PTHR23213,Pfam_domain:PF14642	hypothetical protein LOC158724				ENSP00000345029		1-Jan									COSM2153393	1-Jan	.		ENST00000346193	Transcript						ENSG00000185448	g.chrX:34149408G>T	29962			MODERATE		2.05	medium	getma.org/?cm=msa&ty=f&p=FA47A_HUMAN&rb=171&re=579&var=P330T	NA	getma.org/?cm=var&var=hg19,X,34149408,G,T&fts=all	P330T	--	--	1																																			1	1		probably_damaging(0.991)	p.P330T	NM_203408	NP_981953		tolerated(0.08)	1	FA47A_HUMAN	FAM47A	HGNC	Q5JRC9	FA47A_HUMAN					1	1021	-			UPI000013F1F4	330					SNV	FAM47A,missense_variant,p.Pro330Thr,ENST00000346193,NM_203408.3;	uc004ddg.2	c.988C>A	1040/2579	2	2			c.988C>A						23	SNP	c.(988-990)CCG>ACG	24	24			ovary(4)|central_nervous_system(1)	5	Broad	hypothetical protein LOC158724			34149408		0.637	ENSG00000185448	5474	g.chrX:34149408G>T										56.591899	KEEP	7	13	0.35	1	1	7	13	0.35	59.530321	1	1	0.894737	1	0	0	0	0	1	0	0	0	--	--		0	T				103	GBM-06-5859-TP	p.P330T	G	CCAGTCTCCGGAGGCTCCGGG	NM_203408	NP_981953	34149408	Q5JRC9	FA47A_HUMAN	0			1	1021	-	T	T			Missense_Mutation	330						
FAM47A	0	broad.mit.edu	GRCh37	X	34150178	34150178	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01	TCGA-14-2554-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000346193.3:c.218G>A	p.Arg73His	p.R73H	ENST00000346193	NM_203408.3	73	cGt/cAt	0			1			T	R/H	uc004ddg.2	protein_coding	YES	CCDS43926.1			218/2376									ovary(4)|central_nervous_system(1)	5	c.(217-219)CGT>CAT			hmmpanther:PTHR23213:SF200,hmmpanther:PTHR23213,Pfam_domain:PF14642	hypothetical protein LOC158724				ENSP00000345029		1-Jan									COSM3406322	1-Jan	.		ENST00000346193	Transcript						ENSG00000185448	g.chrX:34150178C>T	29962			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=FA47A_HUMAN&rb=1&re=169&var=R73H	NA	getma.org/?cm=var&var=hg19,X,34150178,C,T&fts=all	R73H	--	--	1																																			1	1		benign(0.03)	p.R73H	NM_203408	NP_981953		tolerated(0.6)	1	FA47A_HUMAN	FAM47A	HGNC	Q5JRC9	FA47A_HUMAN					1	251	-			UPI000013F1F4	73					SNV	FAM47A,missense_variant,p.Arg73His,ENST00000346193,NM_203408.3;	uc004ddg.2	c.218G>A	270/2579	2	2			c.218G>A						23	SNP	c.(217-219)CGT>CAT	17	17			ovary(4)|central_nervous_system(1)	5	Broad	hypothetical protein LOC158724			34150178		0.532	ENSG00000185448	5474	g.chrX:34150178C>T										195.150498	KEEP	38	38	-1	95	87	38	38	-1	201.956228	95	87	0.315556	1	0	0	0	0	1	0	0	0	--	--		0	T				150	GBM-14-2554-TP	p.R73H	C	AAACTCGTCACGGCGACAAAC	NM_203408	NP_981953	34150178	Q5JRC9	FA47A_HUMAN	0			1	251	-	T	T			Missense_Mutation	73						
FAM47A	158724		GRCh37	X	34148878	34148878	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000346193.3:c.1518G>A	p.Ser506=	p.S506=	ENST00000346193	NM_203408.3	506	tcG/tcA	0																																																																																																																																																																																																																																												
FAM47A	158724		GRCh37	X	34150044	34150044	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000346193.3:c.352G>A	p.Val118Ile	p.V118I	ENST00000346193	NM_203408.3	118	Gta/Ata	0																																																																																																																																																																																																																																												
FAM47B	0	broad.mit.edu	GRCh37	X	34962542	34962542	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5139-01	TCGA-26-5139-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329357.5:c.1594C>T	p.Arg532Cys	p.R532C	ENST00000329357	NM_152631.2	532	Cgc/Tgc	0			1			T	R/C	uc004ddi.1	protein_coding	YES	CCDS14236.1			1594/1938									ovary(3)|breast(1)	4	c.(1594-1596)CGC>TGC				hypothetical protein LOC170062				ENSP00000328307		1-Jan	2.47E-05		0.000322						rs773159030,COSM177578	1-Jan	.		ENST00000329357	Transcript						ENSG00000189132	g.chrX:34962542C>T	26659			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=FA47B_HUMAN&rb=1&re=643&var=R532C	NA	getma.org/?cm=var&var=hg19,X,34962542,C,T&fts=all	R532C	--	--	1																																			0,1	1		benign(0.002)	p.R532C	NM_152631	NP_689844		deleterious(0.05)	0,1	FA47B_HUMAN	FAM47B	HGNC	Q8NA70	FA47B_HUMAN					1	1612	+			UPI000013F47B	532					SNV	FAM47B,missense_variant,p.Arg532Cys,ENST00000329357,NM_152631.2;	uc004ddi.1	c.1594C>T	1630/2122	2	2			c.1594C>T						23	SNP	c.(1594-1596)CGC>TGC	24	24			ovary(3)|breast(1)	4	Broad	hypothetical protein LOC170062			34962542		0.498	ENSG00000189132	5475	g.chrX:34962542C>T										-25.151305	KEEP	5	3	-1	91	70	5	3	-1	9.163262	91	70	0.050314	1	0	0	0	0	1	0	0	0	--	--		0	T				186	GBM-26-5139-TP	p.R532C	C	GGACAGGAGACGCCGGGCGGC	NM_152631	NP_689844	34962542	Q8NA70	FA47B_HUMAN	0			1	1612	+	T	T			Missense_Mutation	532						
FAM47C	442444		GRCh37	X	37027694	37027694	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000358047.3:c.1211C>T	p.Pro404Leu	p.P404L	ENST00000358047	NM_001013736.2	404	cCg/cTg	0																																																																																																																																																																																																																																												
FAM47C	442444		GRCh37	X	37027712	37027712	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000358047.3:c.1229G>A	p.Arg410His	p.R410H	ENST00000358047	NM_001013736.2	410	cGc/cAc	0																																																																																																																																																																																																																																												
FAM50B	0	broad.mit.edu	GRCh37	6	3850733	3850733	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-1747-01	TCGA-28-1747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380272.3:c.688G>A	p.Ala230Thr	p.A230T	ENST00000380272	NM_012135.1	230	Gcc/Acc	0			1			A	A/T	uc003mvu.2	protein_coding		CCDS4487.1			688/978									pancreas(1)	1	c.(688-690)GCC>ACC			Pfam_domain:PF04921,hmmpanther:PTHR12722:SF1,hmmpanther:PTHR12722	family with sequence similarity 50, member B				ENSP00000369625		2-Feb	8.24E-06		8.66E-05						rs766522202,COSM3411049	2-Feb	.		ENST00000380272	Transcript				nucleus		ENSG00000145945	g.chr6:3850733G>A	18789			MODERATE		1.195	low	getma.org/?cm=msa&ty=f&p=FA50B_HUMAN&rb=83&re=325&var=A230T	NA	getma.org/?cm=var&var=hg19,6,3850733,G,A&fts=all	A230T	--	--	1																																			0,1			benign(0.065)	p.A230T	NM_012135	NP_036267		tolerated(0.26)	0,1	FA50B_HUMAN	FAM50B	HGNC	Q9Y247	FA50B_HUMAN					2	800	+	Ovarian(93;0.0925)	all_hematologic(90;0.108)	UPI000003373E	230					SNV	FAM50B,missense_variant,p.Ala230Thr,ENST00000380274,;FAM50B,missense_variant,p.Ala230Thr,ENST00000380272,NM_012135.1;RP11-420L9.4,intron_variant,,ENST00000454396,;	uc003mvu.2	c.688G>A	810/1628	1	1			c.688G>A						6	SNP	c.(688-690)GCC>ACC	50	50			pancreas(1)	1	Broad	family with sequence similarity 50, member B			3850733		0.652	ENSG00000145945	5483	g.chr6:3850733G>A		nucleus								41.452749	KEEP	7	13	-1	31	16	7	13	-1	43.827255	31	16	0.288136	1	0	0	0	0	1	0	0	0	--	--		0	A				206	GBM-28-1747-TP	p.A230T	G	GCTGCGCTCCGCCGGCGTGGA	NM_012135	NP_036267	3850733	Q9Y247	FA50B_HUMAN	0			2	800	+	A	A	Ovarian(93;0.0925)	all_hematologic(90;0.108)	Missense_Mutation	230						
FAM53C	51307	broad.mit.edu	GRCh37	5	137680780	137680781	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0174-01	TCGA-06-0174-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000239906.5:c.405dup	p.Pro136AlafsTer83	p.P136Afs*83	ENST00000239906	NM_016605.2	135	cgg/cGgg	0			1			G	R/RX	uc003lcv.2	protein_coding	YES	CCDS4204.1			403-404/1179									ovary(1)	1	c.(403-405)CGGfs			Pfam_domain:PF15242	hypothetical protein LOC51307				ENSP00000239906		5-Apr	1.65E-05					3.11E-05			rs769118499	5-Apr	.		ENST00000239906	Transcript						ENSG00000120709	g.chr5:137680780_137680781insG	1336	2		HIGH								--	--	1																																		FAM53C_uc003lcw.2_Frame_Shift_Ins_p.R135fs|FAM53C_uc011cyq.1_Intron|FAM53C_uc011cyr.1_Intron		1			p.R135fs	NM_001135647	NP_001129119				FA53C_HUMAN	FAM53C	HGNC	Q9NYF3	FA53C_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)				4	873_874	+			UPI000006DF45	135					insertion	FAM53C,frameshift_variant,p.Pro136AlafsTer83,ENST00000239906,NM_016605.2;FAM53C,frameshift_variant,p.Pro136AlafsTer83,ENST00000434981,NM_001135647.1;FAM53C,frameshift_variant,p.Pro126AlafsTer?,ENST00000511276,;FAM53C,intron_variant,,ENST00000513056,;RP11-256P1.1,downstream_gene_variant,,ENST00000504539,;FAM53C,non_coding_transcript_exon_variant,,ENST00000507506,;FAM53C,non_coding_transcript_exon_variant,,ENST00000505768,;FAM53C,non_coding_transcript_exon_variant,,ENST00000505136,;FAM53C,downstream_gene_variant,,ENST00000512180,;FAM53C,downstream_gene_variant,,ENST00000511024,;	uc003lcv.2	c.403_404insG	831-832/4375	5	5			c.403_404insG						5	INS	c.(403-405)CGGfs	20	20			ovary(1)	1	Broad	hypothetical protein LOC51307			137680781		0.683	ENSG00000120709	5486	g.chr5:137680780_137680781insG																							0.04	1	0	0	1	1	0	0	0	0	--	--		0	G			FAM53C_uc003lcw.2_Frame_Shift_Ins_p.R135fs|FAM53C_uc011cyq.1_Intron|FAM53C_uc011cyr.1_Intron	37	GBM-06-0174-TP	p.R135fs	-	GCCGGTGTGGCGGCCCGCCCCC	NM_001135647	NP_001129119	137680780	Q9NYF3	FA53C_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		4	873_874	+	G	G			Frame_Shift_Ins	135						
FAM53C	0	broad.mit.edu	GRCh37	5	137682463	137682463	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-2631-01	TCGA-19-2631-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000239906.5:c.994A>G	p.Met332Val	p.M332V	ENST00000239906	NM_016605.2	332	Atg/Gtg	0			1			G	M/V	uc003lcv.2	protein_coding	YES	CCDS4204.1			994/1179									ovary(1)	1	c.(994-996)ATG>GTG				hypothetical protein LOC51307				ENSP00000239906		5-May	8.24E-06		8.64E-05						rs759996540,COSM2156395	5-May	.		ENST00000239906	Transcript						ENSG00000120709	g.chr5:137682463A>G	1336			MODERATE		1.32	low	getma.org/?cm=msa&ty=f&p=FA53C_HUMAN&rb=1&re=390&var=M332V	NA	getma.org/?cm=var&var=hg19,5,137682463,A,G&fts=all	M332V	--	--	1																																		FAM53C_uc003lcw.2_Missense_Mutation_p.M332V|FAM53C_uc011cyq.1_RNA|FAM53C_uc011cyr.1_3'UTR	0,1	1		benign(0.14)	p.M332V	NM_001135647	NP_001129119		tolerated(0.71)	0,1	FA53C_HUMAN	FAM53C	HGNC	Q9NYF3	FA53C_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)				5	1464	+			UPI000006DF45	332					SNV	FAM53C,missense_variant,p.Met332Val,ENST00000239906,NM_016605.2;FAM53C,missense_variant,p.Met332Val,ENST00000434981,NM_001135647.1;FAM53C,3_prime_UTR_variant,,ENST00000513056,;FAM53C,downstream_gene_variant,,ENST00000511276,;RP11-256P1.1,downstream_gene_variant,,ENST00000504539,;FAM53C,downstream_gene_variant,,ENST00000507506,;FAM53C,downstream_gene_variant,,ENST00000505768,;FAM53C,downstream_gene_variant,,ENST00000505136,;FAM53C,downstream_gene_variant,,ENST00000512180,;FAM53C,downstream_gene_variant,,ENST00000511024,;	uc003lcv.2	c.994A>G	1422/4375	3	3			c.994A>G						5	SNP	c.(994-996)ATG>GTG	1	1			ovary(1)	1	Broad	hypothetical protein LOC51307			137682463		0.572	ENSG00000120709	5486	g.chr5:137682463A>G										134.742208	KEEP	21	29	-1	30	37	21	29	-1	135.120425	30	37	0.43299	1	0	0	0	0	1	0	0	0	--	--		0	G			FAM53C_uc003lcw.2_Missense_Mutation_p.M332V|FAM53C_uc011cyq.1_RNA|FAM53C_uc011cyr.1_3'UTR	167	GBM-19-2631-TP	p.M332V	A	ACCATGGTTCATGGCCTGTAG	NM_001135647	NP_001129119	137682463	Q9NYF3	FA53C_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		5	1464	+	G	G			Missense_Mutation	332						
FAM58BP	0	broad.mit.edu	GRCh37	1	200183231	200183231	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G			TCGA-14-2554-01	TCGA-14-2554-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000424019.1:n.576C>G		*192*	ENST00000424019				0			1			G		uc009wzi.1	processed_pseudogene	YES														0	c.(538-540)GAC>GAG				family with sequence similarity 58 member B						1-Jan										1-Jan	.		ENST00000424019	Transcript			regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding	ENSG00000233827	g.chr1:200183231C>G	27373			MODIFIER		3.045	medium	getma.org/?cm=msa&ty=f&p=FA58B_HUMAN&rb=142&re=252&var=D180E	getma.org/pdb.php?prot=FA58B_HUMAN&from=142&to=252&var=D180E	getma.org/?cm=var&var=hg19,1,200183231,C,G&fts=all	D180E	--	--	1																																				1			p.D180E	NM_001105517	NP_001098987					FAM58BP	HGNC	P0C7Q3	FA58B_HUMAN					1	576	+	Prostate(682;0.19)			180					SNV	FAM58BP,non_coding_transcript_exon_variant,,ENST00000424019,;FAM58BP,non_coding_transcript_exon_variant,,ENST00000439056,;	uc009wzi.1	c.540C>G	576/988	3	3			c.540C>G						1	SNP	c.(538-540)GAC>GAG	56	56				0	Broad	family with sequence similarity 58 member B			200183231		0.652	ENSG00000233827	5495	g.chr1:200183231C>G	regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding							40.068457	KEEP	12	3	-1	22	14	12	3	-1	40.903152	22	14	0.342105	1	0	0	0	0	1	0	0	0	--	--		0	G				150	GBM-14-2554-TP	p.D180E	C	TGCTGCGGGACAGCTACCACG	NM_001105517	NP_001098987	200183231	P0C7Q3	FA58B_HUMAN	0			1	576	+	G	G	Prostate(682;0.19)		Missense_Mutation	180						
FAM60A	0	broad.mit.edu	GRCh37	12	31451078	31451078	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1986-01	TCGA-32-1986-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337682.4:c.61G>A	p.Ala21Thr	p.A21T	ENST00000337682	NM_001135812.1	21	Gct/Act	0			1			T	A/T	uc010sjz.1	protein_coding	YES	CCDS8723.1			61/666										0	c.(61-63)GCT>ACT			hmmpanther:PTHR13422,hmmpanther:PTHR13422:SF11,Pfam_domain:PF15396	family with sequence similarity 60, member A				ENSP00000337477		6-Feb									COSM3398664	6-Feb	.		ENST00000337682	Transcript						ENSG00000139146	g.chr12:31451078C>T	30702			MODERATE		1.715	low	getma.org/?cm=msa&ty=f&p=FA60A_HUMAN&rb=1&re=219&var=A21T	NA	getma.org/?cm=var&var=hg19,12,31451078,C,T&fts=all	A21T	--	--	1																																		FAM60A_uc001rkd.2_Missense_Mutation_p.A21T|FAM60A_uc010ska.1_Missense_Mutation_p.A21T|FAM60A_uc001rke.2_Missense_Mutation_p.A21T|FAM60A_uc010skb.1_Intron|FAM60A_uc001rkc.2_Missense_Mutation_p.A46T	1	1		possibly_damaging(0.638)	p.A21T	NM_021238	NP_067061		tolerated(0.11)	1	FA60A_HUMAN	FAM60A	HGNC	Q9NP50	FA60A_HUMAN			F5H6U2_HUMAN,F5GZ82_HUMAN,B7Z287_HUMAN		2	300	-	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)		UPI00000373C6	21					SNV	FAM60A,missense_variant,p.Ala21Thr,ENST00000337682,NM_001135812.1;FAM60A,missense_variant,p.Ala21Thr,ENST00000454658,;FAM60A,missense_variant,p.Ala21Thr,ENST00000543615,;FAM60A,missense_variant,p.Ala21Thr,ENST00000539004,;FAM60A,5_prime_UTR_variant,,ENST00000395766,NM_001135811.1,NM_021238.2;FAM60A,intron_variant,,ENST00000539409,;FAM60A,intron_variant,,ENST00000542983,;FAM60A,missense_variant,p.Ala12Thr,ENST00000544921,;FAM60A,non_coding_transcript_exon_variant,,ENST00000448582,;	uc010sjz.1	c.61G>A	430/3163	2	2			c.61G>A						12	SNP	c.(61-63)GCT>ACT	46	46				0	Broad	family with sequence similarity 60, member A			31451078		0.418	ENSG00000139146	5499	g.chr12:31451078C>T										84.722704	KEEP	16	28	-1	100	115	16	28	-1	110.195994	100	115	0.168033	1	0	0	0	0	1	0	0	0	--	--		0	T			FAM60A_uc001rkd.2_Missense_Mutation_p.A21T|FAM60A_uc010ska.1_Missense_Mutation_p.A21T|FAM60A_uc001rke.2_Missense_Mutation_p.A21T|FAM60A_uc010skb.1_Intron|FAM60A_uc001rkc.2_Missense_Mutation_p.A46T	233	GBM-32-1986-TP	p.A21T	C	GAGGACTTAGCTCTGCAAATA	NM_021238	NP_067061	31451078	Q9NP50	FA60A_HUMAN	0			2	300	-	T	T	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)		Missense_Mutation	21						
FAM63A	0	broad.mit.edu	GRCh37	1	150974995	150974995	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0211-01	TCGA-06-0211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361738.6:c.243G>A	p.Glu81=	p.E81=	ENST00000361738	NM_001163258.1	81	gaG/gaA	0			1			T	E	uc001ewf.2	protein_coding		CCDS976.1			99/1410									ovary(1)	1	c.(97-99)GAG>GAA			hmmpanther:PTHR18063,hmmpanther:PTHR18063:SF7	hypothetical protein LOC55793 isoform 1				ENSP00000354814		11-Mar									COSM2150738	11-Mar	.		ENST00000361936	Transcript					protein binding	ENSG00000143409	g.chr1:150974995C>T	25648			LOW								--	--	1																																		FAM63A_uc001ewc.2_Intron|FAM63A_uc010pcm.1_Intron|FAM63A_uc001ewd.2_Intron|FAM63A_uc001ewe.2_Intron|FAM63A_uc010pcn.1_Silent_p.E81E|FAM63A_uc001ewg.2_Silent_p.E33E	1				p.E33E	NM_018379	NP_001156731			1	FA63A_HUMAN	FAM63A	HGNC	Q8N5J2	FA63A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)				3	1783	-	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UPI00002041DD	33					SNV	FAM63A,synonymous_variant,p.=,ENST00000361936,NM_018379.4;FAM63A,synonymous_variant,p.=,ENST00000361738,NM_001163258.1;FAM63A,intron_variant,,ENST00000312210,NM_001163260.1,NM_001040217.2,NM_001163259.1;FAM63A,intron_variant,,ENST00000493834,;FAM63A,upstream_gene_variant,,ENST00000497067,;FAM63A,intron_variant,,ENST00000470877,;	uc001ewf.2	c.99G>A	1054/2817	2	2			c.99G>A						1	SNP	c.(97-99)GAG>GAA	32	32			ovary(1)	1	Broad	hypothetical protein LOC55793 isoform 1			150974995		0.577	ENSG00000143409	5500	g.chr1:150974995C>T			protein binding							197.714703	KEEP	43	58	-1	166	186	43	58	-1	225.422861	166	186	0.221649	1	0	0	0	0	0	0	1	0	--	--		0	T			FAM63A_uc001ewc.2_Intron|FAM63A_uc010pcm.1_Intron|FAM63A_uc001ewd.2_Intron|FAM63A_uc001ewe.2_Intron|FAM63A_uc010pcn.1_Silent_p.E81E|FAM63A_uc001ewg.2_Silent_p.E33E	48	GBM-06-0211-TP	p.E33E	C	CCTGAGGGTGCTCATCTGGGC	NM_018379	NP_001156731	150974995	Q8N5J2	FA63A_HUMAN	0	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		3	1783	-	T	T	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		Silent	33						
FAM63A			GRCh37	1	150969818	150969818	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000361738.6:c.1499C>T	p.Pro500Leu	p.P500L	ENST00000361738	NM_001163258.1	500	cCa/cTa	0																																																																																																																																																																																																																																												
FAM65A	0	broad.mit.edu	GRCh37	16	67578997	67578997	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000422602.2:c.3068G>A	p.Arg1023His	p.R1023H	ENST00000422602	NM_001193523.1	1023	cGc/cAc	0			1			A	R/H	uc010vjp.1	protein_coding		CCDS54028.1			3020/3672									ovary(2)|central_nervous_system(1)	3	c.(3067-3069)CGC>CAC			hmmpanther:PTHR15829,hmmpanther:PTHR15829:SF1	hypothetical protein LOC79567				ENSP00000368614		17/22	1.65E-05							0.000121	rs749571482,COSM3402422,COSM3402421	17/22	.		ENST00000379312	Transcript				cytoplasm	binding	ENSG00000039523	g.chr16:67578997G>A	25836			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=FA65A_HUMAN&rb=995&re=1079&var=R1007H	NA	getma.org/?cm=var&var=hg19,16,67578997,G,A&fts=all	R1007H	--	--	1																																		FAM65A_uc002eth.2_Missense_Mutation_p.R1003H|FAM65A_uc010cej.2_Missense_Mutation_p.R1006H|FAM65A_uc010vjq.1_Missense_Mutation_p.R1017H|FAM65A_uc002etk.2_Missense_Mutation_p.R1001H	0,1,1			probably_damaging(0.964)	p.R1023H	NM_024519	NP_078795		tolerated(0.05)	0,1,1	FA65A_HUMAN	FAM65A	HGNC	Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)			17	3164	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	UPI00001C0EC9	1007					SNV	FAM65A,missense_variant,p.Arg1022His,ENST00000540839,;FAM65A,missense_variant,p.Arg1017His,ENST00000428437,NM_001193524.1;FAM65A,missense_variant,p.Arg1007His,ENST00000379312,NM_001193522.1,NM_024519.3;FAM65A,missense_variant,p.Arg1003His,ENST00000042381,;FAM65A,missense_variant,p.Arg1023His,ENST00000422602,NM_001193523.1;FAM65A,intron_variant,,ENST00000568959,;FAM65A,downstream_gene_variant,,ENST00000566559,;FAM65A,downstream_gene_variant,,ENST00000569253,;FAM65A,downstream_gene_variant,,ENST00000565176,;FAM65A,downstream_gene_variant,,ENST00000569179,;CTD-2012K14.6,downstream_gene_variant,,ENST00000605277,;CTD-2012K14.6,downstream_gene_variant,,ENST00000565929,;CTD-2012K14.2,upstream_gene_variant,,ENST00000567122,;CTD-2012K14.3,upstream_gene_variant,,ENST00000563083,;CTD-2012K14.4,upstream_gene_variant,,ENST00000564717,;FAM65A,downstream_gene_variant,,ENST00000566522,;FAM65A,non_coding_transcript_exon_variant,,ENST00000569733,;FAM65A,downstream_gene_variant,,ENST00000566815,;FAM65A,downstream_gene_variant,,ENST00000569474,;FAM65A,downstream_gene_variant,,ENST00000564616,;FAM65A,downstream_gene_variant,,ENST00000561534,;FAM65A,downstream_gene_variant,,ENST00000566730,;FAM65A,upstream_gene_variant,,ENST00000565190,;FAM65A,upstream_gene_variant,,ENST00000565679,;	uc010vjp.1	c.3068G>A	3141/4116	1	1			c.3068G>A						16	SNP	c.(3067-3069)CGC>CAC	54	54			ovary(2)|central_nervous_system(1)	3	Broad	hypothetical protein LOC79567			67578997		0.627	ENSG00000039523	5503	g.chr16:67578997G>A		cytoplasm	binding							-23.480407	KEEP	2	7	-1	125	116	2	7	-1	11.298991	125	116	0.039474	1	0	0	0	0	1	0	0	0	--	--		0	A			FAM65A_uc002eth.2_Missense_Mutation_p.R1003H|FAM65A_uc010cej.2_Missense_Mutation_p.R1006H|FAM65A_uc010vjq.1_Missense_Mutation_p.R1017H|FAM65A_uc002etk.2_Missense_Mutation_p.R1001H	102	GBM-06-5858-TP	p.R1023H	G	CTCTCCCTGCGCCAGCCAGGC	NM_024519	NP_078795	67578997	Q6ZS17	FA65A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	17	3164	+	A	A		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	Missense_Mutation	1007						
FAM65A	0	broad.mit.edu	GRCh37	16	67572596	67572596	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0688-01	TCGA-12-0688-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379312.3:c.138G>A	p.Pro46=	p.P46=	ENST00000379312	NM_001193522.1	46	ccG/ccA	0			1			A	P	uc010vjp.1	protein_coding		CCDS54028.1			138/3672									ovary(2)|central_nervous_system(1)	3	c.(184-186)CCG>CCA			hmmpanther:PTHR15829,hmmpanther:PTHR15829:SF1	hypothetical protein LOC79567				ENSP00000368614		22-Mar									COSM3402420,COSM3402419	22-Mar	.		ENST00000379312	Transcript				cytoplasm	binding	ENSG00000039523	g.chr16:67572596G>A	25836			LOW								--	--	1																																		FAM65A_uc010cei.1_5'UTR|FAM65A_uc002eth.2_Silent_p.P42P|FAM65A_uc010cej.2_Silent_p.P45P|FAM65A_uc002eti.1_Intron|FAM65A_uc010vjq.1_Silent_p.P56P|FAM65A_uc002etj.1_Silent_p.P41P|FAM65A_uc002etk.2_Silent_p.P41P	1,1				p.P62P	NM_024519	NP_078795			1,1	FA65A_HUMAN	FAM65A	HGNC	Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)			3	282	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	UPI00001C0EC9	46					SNV	FAM65A,synonymous_variant,p.=,ENST00000540839,;FAM65A,synonymous_variant,p.=,ENST00000428437,NM_001193524.1;FAM65A,synonymous_variant,p.=,ENST00000379312,NM_001193522.1,NM_024519.3;FAM65A,synonymous_variant,p.=,ENST00000042381,;FAM65A,synonymous_variant,p.=,ENST00000422602,NM_001193523.1;FAM65A,synonymous_variant,p.=,ENST00000566559,;FAM65A,synonymous_variant,p.=,ENST00000566920,;FAM65A,synonymous_variant,p.=,ENST00000565176,;FAM65A,synonymous_variant,p.=,ENST00000562755,;FAM65A,intron_variant,,ENST00000569253,;FAM65A,downstream_gene_variant,,ENST00000566907,;FAM65A,upstream_gene_variant,,ENST00000569179,;FAM65A,downstream_gene_variant,,ENST00000562116,;CTD-2012K14.2,non_coding_transcript_exon_variant,,ENST00000567122,;CTD-2012K14.3,downstream_gene_variant,,ENST00000563083,;CTD-2012K14.4,downstream_gene_variant,,ENST00000564717,;FAM65A,intron_variant,,ENST00000566522,;FAM65A,synonymous_variant,p.=,ENST00000566815,;FAM65A,upstream_gene_variant,,ENST00000569733,;FAM65A,upstream_gene_variant,,ENST00000569474,;FAM65A,upstream_gene_variant,,ENST00000564616,;FAM65A,upstream_gene_variant,,ENST00000561534,;FAM65A,upstream_gene_variant,,ENST00000566730,;	uc010vjp.1	c.186G>A	259/4116	2	2			c.186G>A						16	SNP	c.(184-186)CCG>CCA	25	25			ovary(2)|central_nervous_system(1)	3	Broad	hypothetical protein LOC79567			67572596		0.682	ENSG00000039523	5503	g.chr16:67572596G>A		cytoplasm	binding							-32.295273	KEEP	3	2	-1	96	85	3	2	-1	6.831657	96	85	0.025478	1	0	0	0	0	0	0	1	0	--	--		0	A			FAM65A_uc010cei.1_5'UTR|FAM65A_uc002eth.2_Silent_p.P42P|FAM65A_uc010cej.2_Silent_p.P45P|FAM65A_uc002eti.1_Intron|FAM65A_uc010vjq.1_Silent_p.P56P|FAM65A_uc002etj.1_Silent_p.P41P|FAM65A_uc002etk.2_Silent_p.P41P	121	GBM-12-0688-TP	p.P62P	G	TCTTCAGCCCGCCGGGGCCCC	NM_024519	NP_078795	67572596	Q6ZS17	FA65A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	3	282	+	A	A		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	Silent	46						
FAM65B			GRCh37	6	24843298	24843298	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000259698.4:c.1712T>C	p.Leu571Pro	p.L571P	ENST00000259698	NM_014722.2	571	cTc/cCc	0																																																																																																																																																																																																																																												
FAM65C	0	broad.mit.edu	GRCh37	20	49221267	49221267	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01	TCGA-06-2563-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327979.2:c.989G>A	p.Gly330Asp	p.G330D	ENST00000327979		330	gGc/gAc	0			1			T	G/D	uc002xvm.2	protein_coding		CCDS13431.2			989/2841									ovary(2)	2	c.(988-990)GGC>GAC			hmmpanther:PTHR15829,hmmpanther:PTHR15829:SF12	hypothetical protein LOC140876				ENSP00000045083		22-Dec									COSM3405182	22-Dec	.		ENST00000045083	Transcript						ENSG00000042062	g.chr20:49221267C>T	16168			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=FA65C_HUMAN&rb=201&re=400&var=G330D	NA	getma.org/?cm=var&var=hg19,20,49221267,C,T&fts=all	G330D	--	--	1																																		FAM65C_uc010zyt.1_Missense_Mutation_p.G334D|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Missense_Mutation_p.G330D	1			benign(0.36)	p.G330D	NM_080829	NP_543019		deleterious(0.01)	1	FA65C_HUMAN	FAM65C	HGNC	Q96MK2	FA65C_HUMAN					12	1307	-			UPI0000DA5AF4	330					SNV	FAM65C,missense_variant,p.Gly330Asp,ENST00000327979,;FAM65C,missense_variant,p.Gly330Asp,ENST00000045083,NM_080829.2;FAM65C,missense_variant,p.Gly334Asp,ENST00000535356,;FAM65C,non_coding_transcript_exon_variant,,ENST00000462493,;	uc002xvm.2	c.989G>A	1307/4279	2	2			c.989G>A						20	SNP	c.(988-990)GGC>GAC	48	48			ovary(2)	2	Broad	hypothetical protein LOC140876			49221267		0.592	ENSG00000042062	5505	g.chr20:49221267C>T										-12.97842	KEEP	1	3	-1	46	53	1	3	-1	8.411043	46	53	0.042105	1	0	0	0	0	1	0	0	0	--	--		0	T			FAM65C_uc010zyt.1_Missense_Mutation_p.G334D|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Missense_Mutation_p.G330D	86	GBM-06-2563-TP	p.G330D	C	AGAAAACTTGCCCGTGGGGCT	NM_080829	NP_543019	49221267	Q96MK2	FA65C_HUMAN	0			12	1307	-	T	T			Missense_Mutation	330						
FAM71B	153745	broad.mit.edu	GRCh37	5	156592924	156592924	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01	TCGA-06-0169-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302938.4:c.256G>A	p.Val86Ile	p.V86I	ENST00000302938	NM_130899.2	86	Gtc/Atc	0	T:0		1			T	V/I	uc003lwn.2	protein_coding	YES	CCDS4335.1			256/1818									ovary(4)|pancreas(1)|skin(1)	6	c.(256-258)GTC>ATC			hmmpanther:PTHR22574,hmmpanther:PTHR22574:SF2	family with sequence similarity 71, member B			T:0.0001	ENSP00000305596		2-Jan	1.65E-05					3.00E-05			rs376135369,COSM3246252	2-Jan	.		ENST00000302938	Transcript				nucleus		ENSG00000170613	g.chr5:156592924C>T	28397			MODERATE		1.665	low	getma.org/?cm=msa&ty=f&p=FA71B_HUMAN&rb=1&re=111&var=V86I	NA	getma.org/?cm=var&var=hg19,5,156592924,C,T&fts=all	V86I	--	--	1																																			0,1	1		possibly_damaging(0.483)	p.V86I	NM_130899	NP_570969		tolerated(0.07)	0,1	FA71B_HUMAN	FAM71B	HGNC	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)				1	356	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	UPI000006F9DC	86					SNV	FAM71B,missense_variant,p.Val86Ile,ENST00000302938,NM_130899.2;ITK,intron_variant,,ENST00000521769,;	uc003lwn.2	c.256G>A	352/2515	2	2			c.256G>A						5	SNP	c.(256-258)GTC>ATC	34	34			ovary(4)|pancreas(1)|skin(1)	6	Broad	family with sequence similarity 71, member B			156592924		0.542	ENSG00000170613	5512	g.chr5:156592924C>T		nucleus								45.133236	KEEP	15	15	-1	74	67	15	15	-1	58.152966	74	67	0.175573	1	0	0	0	0	1	0	0	0	--	--		0	T				34	GBM-06-0169-TP	p.V86I	C	AGAACCATGACGTCAGGCAGT	NM_130899	NP_570969	156592924	Q8TC56	FA71B_HUMAN	0	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	356	-	T	T	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Missense_Mutation	86						
FAM71B	153745	broad.mit.edu	GRCh37	5	156589483	156589483	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-1804-01	TCGA-06-1804-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302938.4:c.1793T>C	p.Ile598Thr	p.I598T	ENST00000302938	NM_130899.2	598	aTc/aCc	0			1			G	I/T	uc003lwn.2	protein_coding	YES	CCDS4335.1			1793/1818								p.I598I(1)	ovary(4)|pancreas(1)|skin(1)	6	c.(1792-1794)ATC>ACC			hmmpanther:PTHR22574,hmmpanther:PTHR22574:SF2	family with sequence similarity 71, member B				ENSP00000305596		2-Feb									COSM2152470	2-Feb	.		ENST00000302938	Transcript				nucleus		ENSG00000170613	g.chr5:156589483A>G	28397			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=FA71B_HUMAN&rb=492&re=605&var=I598T	NA	getma.org/?cm=var&var=hg19,5,156589483,A,G&fts=all	I598T	--	--	1																																			1	1		benign(0.043)	p.I598T	NM_130899	NP_570969		deleterious(0.02)	1	FA71B_HUMAN	FAM71B	HGNC	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)				2	1893	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	UPI000006F9DC	598					SNV	FAM71B,missense_variant,p.Ile598Thr,ENST00000302938,NM_130899.2;ITK,intron_variant,,ENST00000521769,;MED7,upstream_gene_variant,,ENST00000524289,;	uc003lwn.2	c.1793T>C	1889/2515	4	4			c.1793T>C						5	SNP	c.(1792-1794)ATC>ACC	17	17		p.I598I(1)	ovary(4)|pancreas(1)|skin(1)	6	Broad	family with sequence similarity 71, member B			156589483		0.517	ENSG00000170613	5512	g.chr5:156589483A>G		nucleus								489.858274	KEEP	78	87	-1	120	141	78	87	-1	494.901305	120	141	0.379135	1	0	0	0	0	1	0	0	0	--	--		0	G				79	GBM-06-1804-TP	p.I598T	A	TTCAAAGACGATCATCTCCGT	NM_130899	NP_570969	156589483	Q8TC56	FA71B_HUMAN	0	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1893	-	G	G	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Missense_Mutation	598						
GARIN3	0	broad.mit.edu	GRCh37	5	156592869	156592869	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01	TCGA-32-1970-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302938.4:c.311G>A	p.Arg104Gln	p.R104Q	ENST00000302938	NM_130899.2	104	cGg/cAg	0			1			T	R/Q	uc003lwn.2	protein_coding	YES	CCDS4335.1			311/1818									ovary(4)|pancreas(1)|skin(1)	6	c.(310-312)CGG>CAG			hmmpanther:PTHR22574,hmmpanther:PTHR22574:SF2	family with sequence similarity 71, member B				ENSP00000305596		2-Jan	2.47E-05		0.000173			1.50E-05			rs745867472,COSM3410056	2-Jan	.		ENST00000302938	Transcript				nucleus		ENSG00000170613	g.chr5:156592869C>T	28397			MODERATE		-0.715	neutral	getma.org/?cm=msa&ty=f&p=FA71B_HUMAN&rb=1&re=111&var=R104Q	NA	getma.org/?cm=var&var=hg19,5,156592869,C,T&fts=all	R104Q	--	--	1																																			0,1	1		benign(0.004)	p.R104Q	NM_130899	NP_570969		tolerated(0.88)	0,1	FA71B_HUMAN	FAM71B	HGNC	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)				1	411	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	UPI000006F9DC	104					SNV	FAM71B,missense_variant,p.Arg104Gln,ENST00000302938,NM_130899.2;ITK,intron_variant,,ENST00000521769,;	uc003lwn.2	c.311G>A	407/2515	2	2			c.311G>A						5	SNP	c.(310-312)CGG>CAG	32	32			ovary(4)|pancreas(1)|skin(1)	6	Broad	family with sequence similarity 71, member B			156592869		0.542	ENSG00000170613	5512	g.chr5:156592869C>T		nucleus								79.269583	KEEP	11	17	-1	31	32	11	17	-1	81.990331	31	32	0.314607	1	0	0	0	0	1	0	0	0	--	--		0	T				228	GBM-32-1970-TP	p.R104Q	C	CTTGGCAAACCGGCCCCATCT	NM_130899	NP_570969	156592869	Q8TC56	FA71B_HUMAN	0	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	411	-	T	T	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Missense_Mutation	104						
GARIN3	0	broad.mit.edu	GRCh37	5	156589852	156589852	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-4210-01	TCGA-32-4210-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302938.4:c.1424A>G	p.Asn475Ser	p.N475S	ENST00000302938	NM_130899.2	475	aAc/aGc	0			1			C	N/S	uc003lwn.2	protein_coding	YES	CCDS4335.1			1424/1818									ovary(4)|pancreas(1)|skin(1)	6	c.(1423-1425)AAC>AGC			hmmpanther:PTHR22574,hmmpanther:PTHR22574:SF2	family with sequence similarity 71, member B				ENSP00000305596		2-Feb									COSM3410054	2-Feb	.		ENST00000302938	Transcript				nucleus		ENSG00000170613	g.chr5:156589852T>C	28397			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=FA71B_HUMAN&rb=352&re=491&var=N475S	NA	getma.org/?cm=var&var=hg19,5,156589852,T,C&fts=all	N475S	--	--	1																																			1	1		benign(0.009)	p.N475S	NM_130899	NP_570969		tolerated(0.75)	1	FA71B_HUMAN	FAM71B	HGNC	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)				2	1524	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	UPI000006F9DC	475					SNV	FAM71B,missense_variant,p.Asn475Ser,ENST00000302938,NM_130899.2;ITK,intron_variant,,ENST00000521769,;MED7,upstream_gene_variant,,ENST00000524289,;	uc003lwn.2	c.1424A>G	1520/2515	4	4			c.1424A>G						5	SNP	c.(1423-1425)AAC>AGC	42	42			ovary(4)|pancreas(1)|skin(1)	6	Broad	family with sequence similarity 71, member B			156589852		0.527	ENSG00000170613	5512	g.chr5:156589852T>C		nucleus								243.410513	KEEP	48	49	-1	146	188	48	49	-1	268.040734	146	188	0.227147	1	0	0	0	0	1	0	0	0	--	--		0	C				245	GBM-32-4210-TP	p.N475S	T	ATCTCTCGTGTTTTTATGGCC	NM_130899	NP_570969	156589852	Q8TC56	FA71B_HUMAN	0	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1524	-	C	C	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Missense_Mutation	475						
GARIN5A	0	broad.mit.edu	GRCh37	19	50979619	50979619	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-16-0846-01	TCGA-16-0846-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000600100.1:c.27C>T	p.Leu9=	p.L9=	ENST00000600100		9	ctC/ctT	0			1			A	L	uc002psh.2	protein_coding					27/744									breast(1)	1	c.(25-27)CTC>CTT			Low_complexity_(Seg):seg	hypothetical protein LOC112703				ENSP00000472421		5-Jan									COSM3404481,COSM3404482	5-Jan	.		ENST00000600100	Transcript						ENSG00000142530	g.chr19:50979619G>A	25107			LOW								--	--	1																																		FAM71E1_uc002psg.2_Silent_p.L9L|FAM71E1_uc002psi.2_RNA|C19orf63_uc002psj.2_5'Flank|C19orf63_uc002psk.2_5'Flank|C19orf63_uc002psl.2_5'Flank	1,1				p.L9L	NM_138411	NP_612420			1,1	F71E1_HUMAN	FAM71E1	HGNC	Q6IPT2	F71E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)			1	385	-		all_neural(266;0.131)	UPI00001609CB	9					SNV	FAM71E1,synonymous_variant,p.=,ENST00000600100,;FAM71E1,synonymous_variant,p.=,ENST00000595790,NM_138411.1;EMC10,upstream_gene_variant,,ENST00000376918,NM_175063.4;EMC10,upstream_gene_variant,,ENST00000334976,NM_206538.2;EMC10,upstream_gene_variant,,ENST00000598585,;EMC10,upstream_gene_variant,,ENST00000597799,;EMC10,upstream_gene_variant,,ENST00000597426,;CTD-2545M3.2,downstream_gene_variant,,ENST00000598194,;EMC10,upstream_gene_variant,,ENST00000601780,;EMC10,upstream_gene_variant,,ENST00000599293,;EMC10,upstream_gene_variant,,ENST00000594508,;FAM71E1,upstream_gene_variant,,ENST00000599206,;FAM71E1,upstream_gene_variant,,ENST00000602178,;FAM71E1,upstream_gene_variant,,ENST00000600330,;FAM71E1,upstream_gene_variant,,ENST00000593796,;	uc002psh.2	c.27C>T	392/1281	2	2			c.27C>T						19	SNP	c.(25-27)CTC>CTT	39	39			breast(1)	1	Broad	hypothetical protein LOC112703			50979619		0.682	ENSG00000142530	5515	g.chr19:50979619G>A										-3.40858	KEEP	6	2	-1	66	37	6	2	-1	14.831315	66	37	0.072165	1	0	0	0	0	0	0	1	0	--	--		0	A			FAM71E1_uc002psg.2_Silent_p.L9L|FAM71E1_uc002psi.2_RNA|C19orf63_uc002psj.2_5'Flank|C19orf63_uc002psk.2_5'Flank|C19orf63_uc002psl.2_5'Flank	155	GBM-16-0846-TP	p.L9L	G	GCGGCTCCTGGAGATCAGGCC	NM_138411	NP_612420	50979619	Q6IPT2	F71E1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)	1	385	-	A	A		all_neural(266;0.131)	Silent	9						
GARIN5A	0	broad.mit.edu	GRCh37	19	50978584	50978584	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A			TCGA-41-2571-01	TCGA-41-2571-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000600100.1:c.537C>T	p.Phe179=	p.F179=	ENST00000600100		179	ttC/ttT	0		A:0.0008	1	A:0		A	F	uc002psh.2	protein_coding					537/744									breast(1)	1	c.(535-537)TTC>TTT			hmmpanther:PTHR22574,Pfam_domain:PF12480	hypothetical protein LOC112703		A:0		ENSP00000472421	A:0.002	5-Mar	0.000321				0.00476	0.000129	0.00252		rs552107394,COSM999742,COSM3404480	5-Mar	common_variant		ENST00000600100	Transcript		A:0.0006				ENSG00000142530	g.chr19:50978584G>A	25107			LOW								--	--	1																																		FAM71E1_uc002psg.2_Silent_p.F163F|FAM71E1_uc002psi.2_RNA|C19orf63_uc002psj.2_5'Flank|C19orf63_uc002psk.2_5'Flank|C19orf63_uc002psl.2_5'Flank	0,1,1				p.F179F	NM_138411	NP_612420	A:0		0,1,1	F71E1_HUMAN	FAM71E1	HGNC	Q6IPT2	F71E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)			3	895	-		all_neural(266;0.131)	UPI00001609CB	179					SNV	FAM71E1,splice_region_variant,p.=,ENST00000600100,;FAM71E1,splice_region_variant,p.=,ENST00000595790,NM_138411.1;EMC10,upstream_gene_variant,,ENST00000376918,NM_175063.4;EMC10,upstream_gene_variant,,ENST00000334976,NM_206538.2;EMC10,upstream_gene_variant,,ENST00000598585,;EMC10,upstream_gene_variant,,ENST00000597799,;EMC10,upstream_gene_variant,,ENST00000597426,;CTD-2545M3.2,downstream_gene_variant,,ENST00000598194,;FAM71E1,splice_region_variant,p.=,ENST00000599206,;FAM71E1,splice_region_variant,p.=,ENST00000602178,;FAM71E1,splice_region_variant,p.=,ENST00000593796,;FAM71E1,non_coding_transcript_exon_variant,,ENST00000600330,;EMC10,upstream_gene_variant,,ENST00000601780,;EMC10,upstream_gene_variant,,ENST00000599293,;	uc002psh.2	c.537C>T	902/1281	2	2			c.537C>T						19	SNP	c.(535-537)TTC>TTT	28	28			breast(1)	1	Broad	hypothetical protein LOC112703			50978584		0.672	ENSG00000142530	5515	g.chr19:50978584G>A										15.612376	KEEP	3	6	-1	21	9	3	6	-1	17.750957	21	9	0.225806	1	0	0	0	0	0	0	1	0	--	--		0	A			FAM71E1_uc002psg.2_Silent_p.F163F|FAM71E1_uc002psi.2_RNA|C19orf63_uc002psj.2_5'Flank|C19orf63_uc002psk.2_5'Flank|C19orf63_uc002psl.2_5'Flank	250	GBM-41-2571-TP	p.F179F	G	GCAGTTACCCGAAGAGTTGCA	NM_138411	NP_612420	50978584	Q6IPT2	F71E1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)	3	895	-	A	A		all_neural(266;0.131)	Silent	179						
GARIN1B	0	broad.mit.edu	GRCh37	7	128370003	128370003	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140953386	byFrequency;by1000genomes	TCGA-16-0861-01	TCGA-16-0861-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315184.5:c.901C>T	p.Arg301Cys	p.R301C	ENST00000315184	NM_032599.2	301	Cgt/Tgt	0	T:0	T:0	1	T:0		T	R/C	uc003vno.1	protein_coding	YES	CCDS5804.1			901/1035									skin(1)	1	c.(901-903)CGT>TGT			hmmpanther:PTHR22574,hmmpanther:PTHR22574:SF10	testes development-related NYD-SP18		T:0	T:0.0012	ENSP00000326652	T:0.001	7-Jun	0.000362					0.0006	0.0011	0.000182	rs140953386,COSM3411567	7-Jun	common_variant		ENST00000315184	Transcript		T:0.0002				ENSG00000135248	g.chr7:128370003C>T	30704			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=F71F1_HUMAN&rb=211&re=344&var=R301C	NA	getma.org/?cm=var&var=hg19,7,128370003,C,T&fts=all	R301C	--	--	1																																		FAM71F1_uc003vnm.1_RNA|FAM71F1_uc003vnn.1_Missense_Mutation_p.R200C|FAM71F1_uc003vnp.1_Missense_Mutation_p.R299C	0,1	1		possibly_damaging(0.634)	p.R301C	NM_032599	NP_115988	T:0	tolerated(0.14)	0,1	F71F1_HUMAN	FAM71F1	HGNC	Q96KD3	F71F1_HUMAN			H7C4R1_HUMAN		6	954	+			UPI000006D961	301					SNV	FAM71F1,missense_variant,p.Arg301Cys,ENST00000315184,NM_032599.2,NM_001282788.1;FAM71F1,missense_variant,p.Arg200Cys,ENST00000485070,NM_001282789.1;FAM71F1,downstream_gene_variant,,ENST00000466842,;FAM71F1,downstream_gene_variant,,ENST00000469348,;FAM71F1,3_prime_UTR_variant,,ENST00000484425,;FAM71F1,downstream_gene_variant,,ENST00000471558,;	uc003vno.1	c.901C>T	954/1718	2	2			c.901C>T						7	SNP	c.(901-903)CGT>TGT	31	31			skin(1)	1	Broad	testes development-related NYD-SP18			128370003		0.547	ENSG00000135248	5516	g.chr7:128370003C>T										-8.570939	KEEP	9	9	-1	112	115	9	9	-1	36.168037	112	115	0.07173	1	0	0	0	0	1	0	0	0	--	--		0	T			FAM71F1_uc003vnm.1_RNA|FAM71F1_uc003vnn.1_Missense_Mutation_p.R200C|FAM71F1_uc003vnp.1_Missense_Mutation_p.R299C	156	GBM-16-0861-TP	p.R301C	C	CTGTGACCTACGTTGGAGGGC	NM_032599	NP_115988	128370003	Q96KD3	F71F1_HUMAN	0			6	954	+	T	T			Missense_Mutation	301						
GARIN1B	0	broad.mit.edu	GRCh37	7	128355633	128355633	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315184.5:c.138G>A	p.Pro46=	p.P46=	ENST00000315184	NM_032599.2	46	ccG/ccA	0			1			A	P	uc003vno.1	protein_coding	YES	CCDS5804.1			138/1035									skin(1)	1	c.(136-138)CCG>CCA			hmmpanther:PTHR22574,hmmpanther:PTHR22574:SF10	testes development-related NYD-SP18				ENSP00000326652		7-Jan	8.24E-06							6.06E-05	rs758275371,COSM2768969	7-Jan	.		ENST00000315184	Transcript						ENSG00000135248	g.chr7:128355633G>A	30704			LOW								--	--	1																																		FAM71F1_uc010llo.1_Intron|FAM71F1_uc011koq.1_Intron|FAM71F1_uc003vnm.1_Intron|FAM71F1_uc003vnn.1_Intron|FAM71F1_uc010llp.1_RNA|FAM71F1_uc003vnp.1_Silent_p.P46P	0,1	1			p.P46P	NM_032599	NP_115988			0,1	F71F1_HUMAN	FAM71F1	HGNC	Q96KD3	F71F1_HUMAN			H7C4R1_HUMAN		1	191	+			UPI000006D961	46					SNV	FAM71F1,synonymous_variant,p.=,ENST00000315184,NM_032599.2,NM_001282788.1;FAM71F1,intron_variant,,ENST00000485070,NM_001282789.1;FAM71F1,upstream_gene_variant,,ENST00000466842,;FAM71F1,non_coding_transcript_exon_variant,,ENST00000483459,;FAM71F1,intron_variant,,ENST00000469348,;FAM71F1,synonymous_variant,p.=,ENST00000471558,;FAM71F1,intron_variant,,ENST00000484425,;FAM71F1,intron_variant,,ENST00000493738,;	uc003vno.1	c.138G>A	191/1718	2	2			c.138G>A						7	SNP	c.(136-138)CCG>CCA	27	27			skin(1)	1	Broad	testes development-related NYD-SP18			128355633		0.522	ENSG00000135248	5516	g.chr7:128355633G>A										62.633108	KEEP	17	22	-1	115	112	17	22	-1	88.483627	115	112	0.158798	1	0	0	0	0	0	0	1	0	--	--		0	A			FAM71F1_uc010llo.1_Intron|FAM71F1_uc011koq.1_Intron|FAM71F1_uc003vnm.1_Intron|FAM71F1_uc003vnn.1_Intron|FAM71F1_uc010llp.1_RNA|FAM71F1_uc003vnp.1_Silent_p.P46P	190	GBM-27-1831-TP	p.P46P	G	ATGGAGAGCCGAACCCTGGAG	NM_032599	NP_115988	128355633	Q96KD3	F71F1_HUMAN	0			1	191	+	A	A			Silent	46						
GARIN1B	0	broad.mit.edu	GRCh37	7	128369997	128369997	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4927-01	TCGA-76-4927-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315184.5:c.895G>A	p.Asp299Asn	p.D299N	ENST00000315184	NM_032599.2	299	Gac/Aac	0			1			A	D/N	uc003vno.1	protein_coding	YES	CCDS5804.1			895/1035								p.D299G(1)	skin(1)	1	c.(895-897)GAC>AAC			hmmpanther:PTHR22574,hmmpanther:PTHR22574:SF10	testes development-related NYD-SP18				ENSP00000326652		7-Jun									COSM3411566	7-Jun	.		ENST00000315184	Transcript						ENSG00000135248	g.chr7:128369997G>A	30704			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=F71F1_HUMAN&rb=211&re=344&var=D299N	NA	getma.org/?cm=var&var=hg19,7,128369997,G,A&fts=all	D299N	--	--	1																																		FAM71F1_uc003vnm.1_RNA|FAM71F1_uc003vnn.1_Missense_Mutation_p.D198N|FAM71F1_uc003vnp.1_Missense_Mutation_p.D297N	1	1		probably_damaging(0.998)	p.D299N	NM_032599	NP_115988		tolerated(0.46)	1	F71F1_HUMAN	FAM71F1	HGNC	Q96KD3	F71F1_HUMAN			H7C4R1_HUMAN		6	948	+			UPI000006D961	299					SNV	FAM71F1,missense_variant,p.Asp299Asn,ENST00000315184,NM_032599.2,NM_001282788.1;FAM71F1,missense_variant,p.Asp198Asn,ENST00000485070,NM_001282789.1;FAM71F1,downstream_gene_variant,,ENST00000466842,;FAM71F1,downstream_gene_variant,,ENST00000469348,;FAM71F1,3_prime_UTR_variant,,ENST00000484425,;FAM71F1,downstream_gene_variant,,ENST00000471558,;	uc003vno.1	c.895G>A	948/1718	1	1			c.895G>A						7	SNP	c.(895-897)GAC>AAC	56	56		p.D299G(1)	skin(1)	1	Broad	testes development-related NYD-SP18			128369997		0.532	ENSG00000135248	5516	g.chr7:128369997G>A										-107.818707	KEEP	6	6	-1	254	261	6	6	-1	16.267695	254	261	0.022541	1	0	0	0	0	1	0	0	0	--	--		0	A			FAM71F1_uc003vnm.1_RNA|FAM71F1_uc003vnn.1_Missense_Mutation_p.D198N|FAM71F1_uc003vnp.1_Missense_Mutation_p.D297N	267	GBM-76-4927-TP	p.D299N	G	TTGCACCTGTGACCTACGTTG	NM_032599	NP_115988	128369997	Q96KD3	F71F1_HUMAN	0			6	948	+	A	A			Missense_Mutation	299						
FAM73A	0	broad.mit.edu	GRCh37	1	78338781	78338781	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-06-5417-01	TCGA-06-5417-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370791.3:c.1656G>C	p.Leu552=	p.L552=	ENST00000370791	NM_001270384.1	552	ctG/ctC	0			1			C	L	uc001dhx.2	protein_coding	YES	CCDS681.1			1656/1899									ovary(1)	1	c.(1654-1656)CTG>CTC			Pfam_domain:PF10265,hmmpanther:PTHR21508,hmmpanther:PTHR21508:SF3	hypothetical protein LOC374986				ENSP00000359827		15/16									COSM2153281	15/16	.		ENST00000370791	Transcript				integral to membrane		ENSG00000180488	g.chr1:78338781G>C	24741			LOW								--	--	1																																		FAM73A_uc010ork.1_Silent_p.L553L|FAM73A_uc010orl.1_Silent_p.L515L	1	1			p.L552L	NM_198549	NP_940951			1	FA73A_HUMAN	FAM73A	HGNC	Q8NAN2	FA73A_HUMAN		Colorectal(170;0.226)	R4GMP2_HUMAN,B7ZLZ8_HUMAN		15	1688	+			UPI00000722C6	552					SNV	FAM73A,synonymous_variant,p.=,ENST00000370791,NM_001270384.1,NM_198549.3;FAM73A,synonymous_variant,p.=,ENST00000443751,;	uc001dhx.2	c.1656G>C	1688/5288	3	3			c.1656G>C						1	SNP	c.(1654-1656)CTG>CTC	55	55			ovary(1)	1	Broad	hypothetical protein LOC374986			78338781		0.358	ENSG00000180488	5520	g.chr1:78338781G>C		integral to membrane								352.965487	KEEP	42	60	-1	94	69	42	60	-1	356.024113	94	69	0.383721	1	0	0	0	0	0	0	1	0	--	--		0	C			FAM73A_uc010ork.1_Silent_p.L553L|FAM73A_uc010orl.1_Silent_p.L515L	99	GBM-06-5417-TP	p.L552L	G	GAAATTCTCTGTATGATTTAT	NM_198549	NP_940951	78338781	Q8NAN2	FA73A_HUMAN	0		Colorectal(170;0.226)	15	1688	+	C	C			Silent	552						
FAM78B	149297		GRCh37	1	166039701	166039701	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000338353.3:c.563C>T	p.Thr188Ile	p.T188I	ENST00000338353		188	aCc/aTc	0																																																																																																																																																																																																																																												
FAM81B	153643	broad.mit.edu	GRCh37	5	94749868	94749868	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01	TCGA-06-0939-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283357.5:c.511G>A	p.Val171Ile	p.V171I	ENST00000283357	NM_152548.2	171	Gtc/Atc	0		A:0	1	A:0.0014		A	V/I	uc003kla.1	protein_coding	YES	CCDS43341.1			511/1359									ovary(1)|skin(1)	2	c.(511-513)GTC>ATC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22420,hmmpanther:PTHR22420:SF3	hypothetical protein LOC153643		A:0		ENSP00000283357	A:0	10-Apr	3.31E-05		8.67E-05			3.00E-05		6.09E-05	rs577772054,COSM2152443	10-Apr	.		ENST00000283357	Transcript		A:0.0002				ENSG00000153347	g.chr5:94749868G>A	26335			MODERATE		2.445	medium	getma.org/?cm=msa&ty=f&p=FA81B_HUMAN&rb=26&re=450&var=V171I	NA	getma.org/?cm=var&var=hg19,5,94749868,G,A&fts=all	V171I	--	--	1																																		FAM81B_uc010jbe.1_5'UTR	0,1	1		probably_damaging(0.998)	p.V171I	NM_152548	NP_689761	A:0	deleterious(0.01)	0,1	FA81B_HUMAN	FAM81B	HGNC	Q96LP2	FA81B_HUMAN		all cancers(79;1.04e-16)			4	557	+		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)	UPI000045731A	171			Potential.		SNV	FAM81B,missense_variant,p.Val171Ile,ENST00000283357,NM_152548.2;FAM81B,downstream_gene_variant,,ENST00000510458,;FAM81B,missense_variant,p.Val121Ile,ENST00000507832,;FAM81B,missense_variant,p.Val117Ile,ENST00000503361,;FAM81B,synonymous_variant,p.=,ENST00000513529,;FAM81B,3_prime_UTR_variant,,ENST00000503099,;	uc003kla.1	c.511G>A	557/1560	2	2			c.511G>A						5	SNP	c.(511-513)GTC>ATC	20	20			ovary(1)|skin(1)	2	Broad	hypothetical protein LOC153643			94749868		0.418	ENSG00000153347	5528	g.chr5:94749868G>A										112.647172	KEEP	21	36	-1	72	74	21	36	-1	120.705071	72	74	0.265432	1	0	0	0	0	1	0	0	0	--	--		0	A			FAM81B_uc010jbe.1_5'UTR	78	GBM-06-0939-TP	p.V171I	G	CACCAGCATCGTCAAAAAACT	NM_152548	NP_689761	94749868	Q96LP2	FA81B_HUMAN	0		all cancers(79;1.04e-16)	4	557	+	A	A		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)	Missense_Mutation	171			Potential.			
FAM81B	0	broad.mit.edu	GRCh37	5	94749823	94749823	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-6173-01	TCGA-26-6173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283357.5:c.466G>A	p.Ala156Thr	p.A156T	ENST00000283357	NM_152548.2	156	Gcc/Acc	0		A:0.0008	1	A:0		A	A/T	uc003kla.1	protein_coding	YES	CCDS43341.1			466/1359									ovary(1)|skin(1)	2	c.(466-468)GCC>ACC			hmmpanther:PTHR22420,hmmpanther:PTHR22420:SF3	hypothetical protein LOC153643		A:0		ENSP00000283357	A:0	10-Apr	3.31E-05	0.000102				3.00E-05		6.06E-05	rs202064996,COSM304688	10-Apr	.		ENST00000283357	Transcript		A:0.0002				ENSG00000153347	g.chr5:94749823G>A	26335			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=FA81B_HUMAN&rb=26&re=450&var=A156T	NA	getma.org/?cm=var&var=hg19,5,94749823,G,A&fts=all	A156T	--	--	1																																		FAM81B_uc010jbe.1_5'UTR	0,1	1		possibly_damaging(0.901)	p.A156T	NM_152548	NP_689761	A:0	deleterious(0.02)	0,1	FA81B_HUMAN	FAM81B	HGNC	Q96LP2	FA81B_HUMAN		all cancers(79;1.04e-16)			4	512	+		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)	UPI000045731A	156					SNV	FAM81B,missense_variant,p.Ala156Thr,ENST00000283357,NM_152548.2;FAM81B,downstream_gene_variant,,ENST00000510458,;FAM81B,missense_variant,p.Ala106Thr,ENST00000507832,;FAM81B,missense_variant,p.Ala102Thr,ENST00000503361,;FAM81B,synonymous_variant,p.=,ENST00000513529,;FAM81B,3_prime_UTR_variant,,ENST00000503099,;	uc003kla.1	c.466G>A	512/1560	2	2			c.466G>A						5	SNP	c.(466-468)GCC>ACC	36	36			ovary(1)|skin(1)	2	Broad	hypothetical protein LOC153643			94749823		0.458	ENSG00000153347	5528	g.chr5:94749823G>A										52.006797	KEEP	10	12	-1	27	24	10	12	-1	53.918229	27	24	0.318182	1	0	0	0	0	1	0	0	0	--	--		0	A			FAM81B_uc010jbe.1_5'UTR	187	GBM-26-6173-TP	p.A156T	G	GGAATCGCTCGCCAGGAAGTT	NM_152548	NP_689761	94749823	Q96LP2	FA81B_HUMAN	0		all cancers(79;1.04e-16)	4	512	+	A	A		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)	Missense_Mutation	156						
FAM83A	84985	broad.mit.edu	GRCh37	8	124206323	124206323	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2558-01	TCGA-06-2558-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000518448.1:c.708C>T	p.Phe236=	p.F236=	ENST00000518448		236	ttC/ttT	0			1			T	F	uc003ypv.2	protein_coding	YES	CCDS6340.1			708/1305									ovary(3)|skin(1)	4	c.(706-708)TTC>TTT			hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF1,Gene3D:3.30.870.10,Pfam_domain:PF07894,Superfamily_domains:SSF56024	hypothetical protein LOC84985 isoform a				ENSP00000428876		5-Apr									COSM2152589,COSM2152590,COSM2152591	5-Apr	.		ENST00000518448	Transcript						ENSG00000147689	g.chr8:124206323C>T	28210			LOW								--	--	1																																		FAM83A_uc003ypw.2_Silent_p.F236F|FAM83A_uc003ypy.2_Silent_p.F180F|FAM83A_uc003ypx.2_Silent_p.F236F|FAM83A_uc003ypz.2_Silent_p.F236F	1,1,1	1			p.F236F	NM_032899	NP_116288			1,1,1	FA83A_HUMAN	FAM83A	HGNC	Q86UY5	FA83A_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)				4	2722	+	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		UPI000019275C	236					SNV	FAM83A,synonymous_variant,p.=,ENST00000518448,;FAM83A,synonymous_variant,p.=,ENST00000318462,NM_032899.4;FAM83A,synonymous_variant,p.=,ENST00000536633,;FAM83A,synonymous_variant,p.=,ENST00000276699,NM_207006.1;FAM83A,synonymous_variant,p.=,ENST00000546351,NM_001288587.1;FAM83A,synonymous_variant,p.=,ENST00000522648,;FAM83A,non_coding_transcript_exon_variant,,ENST00000521468,;RP11-539E17.3,downstream_gene_variant,,ENST00000519311,;	uc003ypv.2	c.708C>T	2722/5393	1	1			c.708C>T						8	SNP	c.(706-708)TTC>TTT	6	6			ovary(3)|skin(1)	4	Broad	hypothetical protein LOC84985 isoform a			124206323		0.473	ENSG00000147689	5532	g.chr8:124206323C>T										133.844052	KEEP	30	18	-1	26	40	30	18	-1	134.388445	26	40	0.423077	1	0	0	0	0	0	0	1	0	--	--		0	T			FAM83A_uc003ypw.2_Silent_p.F236F|FAM83A_uc003ypy.2_Silent_p.F180F|FAM83A_uc003ypx.2_Silent_p.F236F|FAM83A_uc003ypz.2_Silent_p.F236F	82	GBM-06-2558-TP	p.F236F	C	GCAGGAAATTCGCTGGCCAAA	NM_032899	NP_116288	124206323	Q86UY5	FA83A_HUMAN	0	STAD - Stomach adenocarcinoma(47;0.00527)		4	2722	+	T	T	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		Silent	236						
FAM83B	222584	broad.mit.edu	GRCh37	6	54791195	54791195	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-02-0047-01	TCGA-02-0047-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306858.7:c.471T>C	p.Phe157=	p.F157=	ENST00000306858	NM_001010872.2	157	ttT/ttC	0			1			C	F	uc003pck.2	protein_coding	YES	CCDS34479.1			471/3036									ovary(6)	6	c.(469-471)TTT>TTC			hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF4,Gene3D:3.30.870.10,Pfam_domain:PF07894,Superfamily_domains:SSF56024	hypothetical protein LOC222584				ENSP00000304078		5-Mar									COSM3411203	5-Mar	.		ENST00000306858	Transcript						ENSG00000168143	g.chr6:54791195T>C	21357			LOW								--	--	1																																			1	1			p.F157F	NM_001010872	NP_001010872			1	FA83B_HUMAN	FAM83B	HGNC	Q5T0W9	FA83B_HUMAN					3	587	+	Lung NSC(77;0.0178)|Renal(3;0.122)		UPI00001D81EC	157					SNV	FAM83B,synonymous_variant,p.=,ENST00000306858,NM_001010872.2;	uc003pck.2	c.471T>C	587/3167	4	4			c.471T>C						6	SNP	c.(469-471)TTT>TTC	36	36			ovary(6)	6	Broad	hypothetical protein LOC222584			54791195		0.299	ENSG00000168143	5533	g.chr6:54791195T>C										5.181624	KEEP	8	6	-1	89	69	8	6	-1	32.961506	89	69	0.078431	1	0	0	0	0	0	0	1	0	--	--		0	C				3	GBM-02-0047-TP	p.F157F	T	TGGATATATTTACAGATGTGG	NM_001010872	NP_001010872	54791195	Q5T0W9	FA83B_HUMAN	0			3	587	+	C	C	Lung NSC(77;0.0178)|Renal(3;0.122)		Silent	157						
FAM83B	0	broad.mit.edu	GRCh37	6	54806091	54806091	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0688-01	TCGA-12-0688-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306858.7:c.2322G>A	p.Lys774=	p.K774=	ENST00000306858	NM_001010872.2	774	aaG/aaA	0			1			A	K	uc003pck.2	protein_coding	YES	CCDS34479.1			2322/3036									ovary(6)	6	c.(2320-2322)AAG>AAA			hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF4	hypothetical protein LOC222584				ENSP00000304078		5-May									COSM2153902	5-May	.		ENST00000306858	Transcript						ENSG00000168143	g.chr6:54806091G>A	21357			LOW								--	--	1																																			1	1			p.K774K	NM_001010872	NP_001010872			1	FA83B_HUMAN	FAM83B	HGNC	Q5T0W9	FA83B_HUMAN					5	2438	+	Lung NSC(77;0.0178)|Renal(3;0.122)		UPI00001D81EC	774					SNV	FAM83B,synonymous_variant,p.=,ENST00000306858,NM_001010872.2;RP3-523K23.2,upstream_gene_variant,,ENST00000562834,;	uc003pck.2	c.2322G>A	2438/3167	1	1			c.2322G>A						6	SNP	c.(2320-2322)AAG>AAA	49	49			ovary(6)	6	Broad	hypothetical protein LOC222584			54806091		0.363	ENSG00000168143	5533	g.chr6:54806091G>A										121.383519	KEEP	21	21	-1	26	33	21	21	-1	121.838505	26	33	0.425532	1	0	0	0	0	0	0	1	0	--	--		0	A				121	GBM-12-0688-TP	p.K774K	G	GGTCTCAGAAGTTAAGGTCAT	NM_001010872	NP_001010872	54806091	Q5T0W9	FA83B_HUMAN	0			5	2438	+	A	A	Lung NSC(77;0.0178)|Renal(3;0.122)		Silent	774						
FAM83B	0	broad.mit.edu	GRCh37	6	54805279	54805279	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs115872183	byFrequency;by1000genomes	TCGA-28-1747-01	TCGA-28-1747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306858.7:c.1510C>T	p.His504Tyr	p.H504Y	ENST00000306858	NM_001010872.2	504	Cat/Tat	0	T:0.0018	T:0	1	T:0.0029		T	H/Y	uc003pck.2	protein_coding	YES	CCDS34479.1			1510/3036									ovary(6)	6	c.(1510-1512)CAT>TAT			hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF4	hypothetical protein LOC222584		T:0	T:0.0069	ENSP00000304078	T:0.0089	5-May	0.00474	0.00147	0.00148		0.0109	0.00702	0.0033		rs115872183,COSM3748346	5-May	common_variant		ENST00000306858	Transcript		T:0.0022				ENSG00000168143	g.chr6:54805279C>T	21357			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=FA83B_HUMAN&rb=476&re=523&var=H504Y	NA	getma.org/?cm=var&var=hg19,6,54805279,C,T&fts=all	H504Y	--	--	1																																			0,1	1		benign(0.003)	p.H504Y	NM_001010872	NP_001010872	T:0	tolerated(0.27)	0,1	FA83B_HUMAN	FAM83B	HGNC	Q5T0W9	FA83B_HUMAN					5	1626	+	Lung NSC(77;0.0178)|Renal(3;0.122)		UPI00001D81EC	504					SNV	FAM83B,missense_variant,p.His504Tyr,ENST00000306858,NM_001010872.2;RP3-523K23.2,upstream_gene_variant,,ENST00000562834,;	uc003pck.2	c.1510C>T	1626/3167	2	2			c.1510C>T						6	SNP	c.(1510-1512)CAT>TAT	26	26			ovary(6)	6	Broad	hypothetical protein LOC222584			54805279		0.408	ENSG00000168143	5533	g.chr6:54805279C>T										174.817892	KEEP	39	30	-1	50	73	39	30	-1	178.139921	50	73	0.355556	1	0	0	0	0	1	0	0	0	--	--		0	T				206	GBM-28-1747-TP	p.H504Y	C	CTTAAATGATCATTCAGAAGC	NM_001010872	NP_001010872	54805279	Q5T0W9	FA83B_HUMAN	0			5	1626	+	T	T	Lung NSC(77;0.0178)|Renal(3;0.122)		Missense_Mutation	504						
FAM83B	0	broad.mit.edu	GRCh37	6	54806575	54806575	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2499-01	TCGA-28-2499-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306858.7:c.2806C>T	p.Arg936Cys	p.R936C	ENST00000306858	NM_001010872.2	936	Cgt/Tgt	0			1			T	R/C	uc003pck.2	protein_coding	YES	CCDS34479.1			2806/3036									ovary(6)	6	c.(2806-2808)CGT>TGT			hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF4	hypothetical protein LOC222584				ENSP00000304078		5-May									COSM3411206	5-May	.		ENST00000306858	Transcript						ENSG00000168143	g.chr6:54806575C>T	21357			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=FA83B_HUMAN&rb=524&re=1009&var=R936C	NA	getma.org/?cm=var&var=hg19,6,54806575,C,T&fts=all	R936C	--	--	1																																			1	1		probably_damaging(1)	p.R936C	NM_001010872	NP_001010872		deleterious(0)	1	FA83B_HUMAN	FAM83B	HGNC	Q5T0W9	FA83B_HUMAN					5	2922	+	Lung NSC(77;0.0178)|Renal(3;0.122)		UPI00001D81EC	936					SNV	FAM83B,missense_variant,p.Arg936Cys,ENST00000306858,NM_001010872.2;RP3-523K23.2,upstream_gene_variant,,ENST00000562834,;	uc003pck.2	c.2806C>T	2922/3167	2	2			c.2806C>T						6	SNP	c.(2806-2808)CGT>TGT	48	48			ovary(6)	6	Broad	hypothetical protein LOC222584			54806575		0.438	ENSG00000168143	5533	g.chr6:54806575C>T										223.286049	KEEP	35	43	-1	54	78	35	43	-1	225.26587	54	78	0.391753	1	0	0	0	0	1	0	0	0	--	--		0	T				208	GBM-28-2499-TP	p.R936C	C	TGTTTACAGTCGTTTTGAGCC	NM_001010872	NP_001010872	54806575	Q5T0W9	FA83B_HUMAN	0			5	2922	+	T	T	Lung NSC(77;0.0178)|Renal(3;0.122)		Missense_Mutation	936						
FAM83B	0	broad.mit.edu	GRCh37	6	54805390	54805390	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01	TCGA-41-2572-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306858.7:c.1621C>T	p.Arg541Cys	p.R541C	ENST00000306858	NM_001010872.2	541	Cgt/Tgt	0			1			T	R/C	uc003pck.2	protein_coding	YES	CCDS34479.1			1621/3036									ovary(6)	6	c.(1621-1623)CGT>TGT			hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF4	hypothetical protein LOC222584				ENSP00000304078		5-May	2.47E-05					1.50E-05		0.000121	rs753104783,COSM3411205	5-May	.		ENST00000306858	Transcript						ENSG00000168143	g.chr6:54805390C>T	21357			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=FA83B_HUMAN&rb=524&re=1009&var=R541C	NA	getma.org/?cm=var&var=hg19,6,54805390,C,T&fts=all	R541C	--	--	1																																			0,1	1		probably_damaging(1)	p.R541C	NM_001010872	NP_001010872		deleterious(0)	0,1	FA83B_HUMAN	FAM83B	HGNC	Q5T0W9	FA83B_HUMAN					5	1737	+	Lung NSC(77;0.0178)|Renal(3;0.122)		UPI00001D81EC	541	R -> S (in Ref. 4; BAB70873).				SNV	FAM83B,missense_variant,p.Arg541Cys,ENST00000306858,NM_001010872.2;RP3-523K23.2,upstream_gene_variant,,ENST00000562834,;	uc003pck.2	c.1621C>T	1737/3167	2	2			c.1621C>T						6	SNP	c.(1621-1623)CGT>TGT	28	28			ovary(6)	6	Broad	hypothetical protein LOC222584			54805390		0.418	ENSG00000168143	5533	g.chr6:54805390C>T										132.047688	KEEP	26	21	-1	27	49	26	21	-1	133.413126	27	49	0.384615	1	0	0	0	0	1	0	0	0	--	--		0	T				251	GBM-41-2572-TP	p.R541C	C	TTCTCGGCTTCGTTCCTCTTT	NM_001010872	NP_001010872	54805390	Q5T0W9	FA83B_HUMAN	0			5	1737	+	T	T	Lung NSC(77;0.0178)|Renal(3;0.122)		Missense_Mutation	541	R -> S (in Ref. 4; BAB70873).					
FAM83C	0	broad.mit.edu	GRCh37	20	33880014	33880014	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374408.3:c.94C>T	p.Arg32Trp	p.R32W	ENST00000374408	NM_178468.5	32	Cgg/Tgg	0			1			A	R/W	uc010zux.1	protein_coding	YES	CCDS13251.1			94/2244									ovary(2)	2	c.(94-96)CGG>TGG			hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF3,Pfam_domain:PF07894	hypothetical protein LOC128876				ENSP00000363529		4-Jan	8.63E-06			0.000157					rs773562212,COSM3405038	4-Jan	.		ENST00000374408	Transcript						ENSG00000125998	g.chr20:33880014G>A	16121			MODERATE		1.75	low	getma.org/?cm=msa&ty=f&p=FA83C_HUMAN&rb=23&re=307&var=R32W	NA	getma.org/?cm=var&var=hg19,20,33880014,G,A&fts=all	R32W	--	--	1																																		FAM83C_uc002xcb.1_5'UTR	0,1	1		probably_damaging(1)	p.R32W	NM_178468	NP_848563		deleterious(0)	0,1	FA83C_HUMAN	FAM83C	HGNC	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)				1	212	-			UPI0000072DC0	32					SNV	FAM83C,missense_variant,p.Arg32Trp,ENST00000374408,NM_178468.5;	uc010zux.1	c.94C>T	191/3145	1	1			c.94C>T						20	SNP	c.(94-96)CGG>TGG	51	51			ovary(2)	2	Broad	hypothetical protein LOC128876			33880014		0.746	ENSG00000125998	5534	g.chr20:33880014G>A										20.631675	KEEP	3	5	-1	7	7	3	5	-1	20.649511	7	7	0.538462	1	0	0	0	0	1	0	0	0	--	--		0	A			FAM83C_uc002xcb.1_5'UTR	230	GBM-32-1979-TP	p.R32W	G	GAGCTCTCCCGCCACCACGGC	NM_178468	NP_848563	33880014	Q9BQN1	FA83C_HUMAN	0	BRCA - Breast invasive adenocarcinoma(18;0.00252)		1	212	-	A	A			Missense_Mutation	32						
FAM83D	0	broad.mit.edu	GRCh37	20	37580810	37580811	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-14-1043-01	TCGA-14-1043-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217429.4:c.1496dupT	p.Ser500IlefsTer32	p.S500Ifs*32	ENST00000217429	NM_030919.2	499	gta/gTta	0			1			T	V/VX	uc002xjg.2	protein_coding	YES	CCDS42872.1			1495-1496/1848									ovary(3)	3	c.(1495-1497)GTAfs			hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF7,Low_complexity_(Seg):seg	hypothetical protein LOC81610				ENSP00000217429		4-Apr										4-Apr	.		ENST00000217429	Transcript			cell division|mitosis	cytoplasm|spindle pole		ENSG00000101447	g.chr20:37580810_37580811insT	16122	1		HIGH								--	--	1																																				1			p.V499fs	NM_030919	NP_112181				FA83D_HUMAN	FAM83D	HGNC	Q9H4H8	FA83D_HUMAN					4	1536_1537	+		Myeloproliferative disorder(115;0.00878)	UPI00004708E6	469			Ser-rich.		insertion	FAM83D,frameshift_variant,p.Ser500IlefsTer32,ENST00000217429,NM_030919.2;	uc002xjg.2	c.1495_1496insT	1536-1537/2429	5	5			c.1495_1496insT						20	INS	c.(1495-1497)GTAfs	50	50			ovary(3)	3	Broad	hypothetical protein LOC81610			37580811		0.485	ENSG00000101447	5535	g.chr20:37580810_37580811insT	cell division|mitosis	cytoplasm|spindle pole																					0.23	1	0	0	1	1	0	0	0	0	--	--		0	T				143	GBM-14-1043-TP	p.V499fs	-	AAAAATGTCTGTATCGAGATCT	NM_030919	NP_112181	37580810	Q9H4H8	FA83D_HUMAN	0			4	1536_1537	+	T	T		Myeloproliferative disorder(115;0.00878)	Frame_Shift_Ins	469			Ser-rich.			
FAM83D	0	broad.mit.edu	GRCh37	20	37555323	37555325	+	inframe_deletion	In_Frame_Del	DEL	GCG	GCG	-			TCGA-41-5651-01	TCGA-41-5651-01	GCG	GCG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217429.4:c.345_347delGGC	p.Ala116del	p.A116del	ENST00000217429	NM_030919.2	110	GCG/-	0			1			-	A/-	uc002xjg.2	protein_coding	YES	CCDS42872.1			328-330/1848									ovary(3)	3	c.(328-330)GCGdel			Pfam_domain:PF07894,hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF7,Low_complexity_(Seg):seg	hypothetical protein LOC81610				ENSP00000217429		4-Jan									rs570408132,TMP_ESP_20_37555323_37555325	4-Jan	.		ENST00000217429	Transcript		-:0.0160	cell division|mitosis	cytoplasm|spindle pole		ENSG00000101447	g.chr20:37555323_37555325delGCG	16122	17		MODERATE								--	--	1																																		FAM83D_uc002xjf.2_In_Frame_Del_p.A116del		1			p.A116del	NM_030919	NP_112181				FA83D_HUMAN	FAM83D	HGNC	Q9H4H8	FA83D_HUMAN					1	369_371	+		Myeloproliferative disorder(115;0.00878)	UPI00004708E6	86			Poly-Ala.		deletion	FAM83D,inframe_deletion,p.Ala116del,ENST00000217429,NM_030919.2;PPP1R16B,downstream_gene_variant,,ENST00000299824,NM_015568.2;PPP1R16B,downstream_gene_variant,,ENST00000373331,NM_001172735.1;	uc002xjg.2	c.328_330delGCG	369-371/2429	5	5			c.328_330delGCG						20	DEL	c.(328-330)GCGdel	59	59			ovary(3)	3	Broad	hypothetical protein LOC81610			37555325		0.621	ENSG00000101447	5535	g.chr20:37555323_37555325delGCG	cell division|mitosis	cytoplasm|spindle pole																					0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			FAM83D_uc002xjf.2_In_Frame_Del_p.A116del	258	GBM-41-5651-TP	p.A116del	GCG	AGAGGAGGGCgcggcggcggcgg	NM_030919	NP_112181	37555323	Q9H4H8	FA83D_HUMAN	0			1	369_371	+	-	-		Myeloproliferative disorder(115;0.00878)	In_Frame_Del	86			Poly-Ala.			
FAM83E	0	broad.mit.edu	GRCh37	19	49106813	49106813	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01	TCGA-19-2631-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263266.3:c.1114C>T	p.Arg372Cys	p.R372C	ENST00000263266	NM_017708.3	372	Cgc/Tgc	0			1			A	R/C	uc002pjn.2	protein_coding	YES	CCDS42587.1			1114/1437									ovary(1)	1	c.(1114-1116)CGC>TGC			hmmpanther:PTHR16181:SF6,hmmpanther:PTHR16181	hypothetical protein LOC54854				ENSP00000263266		5-Apr	2.56E-05		0.000211			2.00E-05			rs769720931,COSM3404429	5-Apr	.		ENST00000263266	Transcript						ENSG00000105523	g.chr19:49106813G>A	25972			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=FA83E_HUMAN&rb=292&re=478&var=R372C	NA	getma.org/?cm=var&var=hg19,19,49106813,G,A&fts=all	R372C	--	--	1																																			0,1	1		benign(0.023)	p.R372C	NM_017708	NP_060178		tolerated(0.06)	0,1	FA83E_HUMAN	FAM83E	HGNC	Q2M2I3	FA83E_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	M0QZ37_HUMAN		4	1179	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	UPI000013D3D9	372					SNV	FAM83E,missense_variant,p.Arg372Cys,ENST00000263266,NM_017708.3;SULT2B1,downstream_gene_variant,,ENST00000323090,NM_004605.2;SULT2B1,downstream_gene_variant,,ENST00000201586,NM_177973.1;SPACA4,upstream_gene_variant,,ENST00000321762,NM_133498.2;SULT2B1,downstream_gene_variant,,ENST00000594274,;SULT2B1,downstream_gene_variant,,ENST00000597923,;	uc002pjn.2	c.1114C>T	1304/1926	1	1			c.1114C>T						19	SNP	c.(1114-1116)CGC>TGC	52	52			ovary(1)	1	Broad	hypothetical protein LOC54854			49106813		0.517	ENSG00000105523	5536	g.chr19:49106813G>A										21.722581	KEEP	3	4	-1	5	10	3	4	-1	21.777106	5	10	0.4375	1	0	0	0	0	1	0	0	0	--	--		0	A				167	GBM-19-2631-TP	p.R372C	G	CACATGGAGCGGCTgggccgg	NM_017708	NP_060178	49106813	Q2M2I3	FA83E_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	4	1179	-	A	A		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	Missense_Mutation	372						
FAM83F	113828	broad.mit.edu	GRCh37	22	40417570	40417570	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-02-0003-01	TCGA-02-0003-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333407.6:c.1056C>T	p.Gly352=	p.G352=	ENST00000333407	NM_138435.2	352	ggC/ggT	0			1			T	G	uc003ayk.1	protein_coding	YES	CCDS14000.2			1056/1503									breast(1)	1	c.(1054-1056)GGC>GGT			hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF9	hypothetical protein LOC113828				ENSP00000330432		5-Apr	8.29E-06					1.67E-05			rs763939183,COSM3405686	5-Apr	.		ENST00000333407	Transcript						ENSG00000133477	g.chr22:40417570C>T	25148			LOW								--	--	1																																			0,1	1			p.G352G	NM_138435	NP_612444			0,1	FA83F_HUMAN	FAM83F	HGNC	Q8NEG4	FA83F_HUMAN					4	1150	+			UPI0000071BF1	352					SNV	FAM83F,synonymous_variant,p.=,ENST00000333407,NM_138435.2;FAM83F,synonymous_variant,p.=,ENST00000473717,;	uc003ayk.1	c.1056C>T	1150/15561	1	1			c.1056C>T						22	SNP	c.(1054-1056)GGC>GGT	6	6			breast(1)	1	Broad	hypothetical protein LOC113828			40417570		0.687	ENSG00000133477	5537	g.chr22:40417570C>T										105.677448	KEEP	31	22	-1	20	25	31	22	-1	105.838768	20	25	0.550725	1	0	0	0	0	0	0	1	0	--	--		0	T				1	GBM-02-0003-TP	p.G352G	C	GGGAGGCGGGCGGCAACCCGG	NM_138435	NP_612444	40417570	Q8NEG4	FA83F_HUMAN	0			4	1150	+	T	T			Silent	352						
FAM83G	644815		GRCh37	17	18891569	18891569	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000388995.6:c.681G>A	p.Gly227=	p.G227=	ENST00000388995		227	ggG/ggA	0																																																																																																																																																																																																																																												
FAM83H	286077	broad.mit.edu	GRCh37	8	144808129	144808129	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0241-01	TCGA-06-0241-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388913.3:c.3502G>A	p.Val1168Met	p.V1168M	ENST00000388913	NM_198488.3	1168	Gtg/Atg	0			1			T	V/M	uc003yzk.2	protein_coding	YES	CCDS6410.2			3502/3540									lung(1)|central_nervous_system(1)|pancreas(1)	3	c.(3502-3504)GTG>ATG				FAM83H				ENSP00000373565		5-May									COSM1097007	5-May	.		ENST00000388913	Transcript	1		biomineral tissue development			ENSG00000180921	g.chr8:144808129C>T	24797			MODERATE		-0.46	neutral	getma.org/?cm=msa&ty=f&p=FA83H_HUMAN&rb=659&re=1177&var=V1168M	NA	getma.org/?cm=var&var=hg19,8,144808129,C,T&fts=all	V1168M	--	--	1																																		FAM83H_uc010mfk.1_RNA	1	1		benign(0.004)	p.V1168M	NM_198488	NP_940890		tolerated(1)	1	FA83H_HUMAN	FAM83H	HGNC	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		F4ZCG5_HUMAN		5	3571	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		UPI00001D823F	1168					SNV	FAM83H,missense_variant,p.Val1168Met,ENST00000388913,NM_198488.3;MAPK15,downstream_gene_variant,,ENST00000338033,NM_139021.2;FAM83H,missense_variant,p.Val895Met,ENST00000395103,;MAPK15,downstream_gene_variant,,ENST00000484654,;MAPK15,downstream_gene_variant,,ENST00000461928,;MAPK15,downstream_gene_variant,,ENST00000533830,;MAPK15,downstream_gene_variant,,ENST00000528175,;	uc003yzk.2	c.3502G>A	3628/5654	2	2			c.3502G>A						8	SNP	c.(3502-3504)GTG>ATG	40	40			lung(1)|central_nervous_system(1)|pancreas(1)	3	Broad	FAM83H			144808129		0.647	ENSG00000180921	5539	g.chr8:144808129C>T	biomineral tissue development									59.960055	KEEP	12	13	-1	23	18	12	13	-1	60.634416	23	18	0.381818	1	0	0	0	0	1	0	0	0	--	--		0	T			FAM83H_uc010mfk.1_RNA	57	GBM-06-0241-TP	p.V1168M	C	ATCTTGGGCACGAACTTGCCC	NM_198488	NP_940890	144808129	Q6ZRV2	FA83H_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	3571	-	T	T	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	1168						
FAM83H	286077	broad.mit.edu	GRCh37	8	144810766	144810766	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01	TCGA-06-5415-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388913.3:c.865G>A	p.Ala289Thr	p.A289T	ENST00000388913	NM_198488.3	289	Gcg/Acg	0			1			T	A/T	uc003yzk.2	protein_coding	YES	CCDS6410.2			865/3540									lung(1)|central_nervous_system(1)|pancreas(1)	3	c.(865-867)GCG>ACG			Low_complexity_(Seg):seg,hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF8	FAM83H				ENSP00000373565		5-May									COSM3412809	5-May	.		ENST00000388913	Transcript	1		biomineral tissue development			ENSG00000180921	g.chr8:144810766C>T	24797			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=FA83H_HUMAN&rb=286&re=561&var=A289T	NA	getma.org/?cm=var&var=hg19,8,144810766,C,T&fts=all	A289T	--	--	1																																		FAM83H_uc010mfk.1_RNA	1	1		benign(0.001)	p.A289T	NM_198488	NP_940890		tolerated(0.18)	1	FA83H_HUMAN	FAM83H	HGNC	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		F4ZCG5_HUMAN		5	934	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		UPI00001D823F	289					SNV	FAM83H,missense_variant,p.Ala289Thr,ENST00000388913,NM_198488.3;MIR4664,downstream_gene_variant,,ENST00000583819,;FAM83H,missense_variant,p.Ala16Thr,ENST00000395103,;	uc003yzk.2	c.865G>A	991/5654	1	1			c.865G>A						8	SNP	c.(865-867)GCG>ACG	7	7			lung(1)|central_nervous_system(1)|pancreas(1)	3	Broad	FAM83H			144810766		0.711	ENSG00000180921	5539	g.chr8:144810766C>T	biomineral tissue development									18.054566	KEEP	2	8	-1	2	6	2	8	-1	18.143625	2	6	0.6	1	0	0	0	0	1	0	0	0	--	--		0	T			FAM83H_uc010mfk.1_RNA	98	GBM-06-5415-TP	p.A289T	C	GCCAGGGCCGCGGCCGAGGGC	NM_198488	NP_940890	144810766	Q6ZRV2	FA83H_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	934	-	T	T	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	289						
FAM83H	0	broad.mit.edu	GRCh37	8	144808805	144808805	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0688-01	TCGA-12-0688-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388913.3:c.2826C>T	p.Ser942=	p.S942=	ENST00000388913	NM_198488.3	942	tcC/tcT	0			1			A	S	uc003yzk.2	protein_coding	YES	CCDS6410.2			2826/3540									lung(1)|central_nervous_system(1)|pancreas(1)	3	c.(2824-2826)TCC>TCT			hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF8	FAM83H				ENSP00000373565		5-May	0.000128							0.00104	rs544120916,COSM2153945	5-May	common_variant		ENST00000388913	Transcript	1		biomineral tissue development			ENSG00000180921	g.chr8:144808805G>A	24797			LOW								--	--	1																																		FAM83H_uc010mfk.1_RNA	0,1	1			p.S942S	NM_198488	NP_940890			0,1	FA83H_HUMAN	FAM83H	HGNC	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		F4ZCG5_HUMAN		5	2895	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		UPI00001D823F	942					SNV	FAM83H,synonymous_variant,p.=,ENST00000388913,NM_198488.3;MAPK15,downstream_gene_variant,,ENST00000338033,NM_139021.2;FAM83H,synonymous_variant,p.=,ENST00000395103,;MAPK15,downstream_gene_variant,,ENST00000484654,;MAPK15,downstream_gene_variant,,ENST00000461928,;MAPK15,downstream_gene_variant,,ENST00000528175,;	uc003yzk.2	c.2826C>T	2952/5654	1	1			c.2826C>T						8	SNP	c.(2824-2826)TCC>TCT	57	57			lung(1)|central_nervous_system(1)|pancreas(1)	3	Broad	FAM83H			144808805		0.736	ENSG00000180921	5539	g.chr8:144808805G>A	biomineral tissue development									33.217224	KEEP	4	8	-1	13	14	4	8	-1	33.906401	13	14	0.34375	1	0	0	0	0	0	0	1	0	--	--		0	A			FAM83H_uc010mfk.1_RNA	121	GBM-12-0688-TP	p.S942S	G	GGGACTCCCCGGAGATGGTAA	NM_198488	NP_940890	144808805	Q6ZRV2	FA83H_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	2895	-	A	A	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Silent	942						
FAM83H	0	broad.mit.edu	GRCh37	8	144808899	144808899	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388913.3:c.2732G>A	p.Arg911His	p.R911H	ENST00000388913	NM_198488.3	911	cGc/cAc	0			1			T	R/H	uc003yzk.2	protein_coding	YES	CCDS6410.2			2732/3540									lung(1)|central_nervous_system(1)|pancreas(1)	3	c.(2731-2733)CGC>CAC			Low_complexity_(Seg):seg,hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF8	FAM83H				ENSP00000373565		5-May									COSM2157506	5-May	.		ENST00000388913	Transcript	1		biomineral tissue development			ENSG00000180921	g.chr8:144808899C>T	24797			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=FA83H_HUMAN&rb=659&re=1177&var=R911H	NA	getma.org/?cm=var&var=hg19,8,144808899,C,T&fts=all	R911H	--	--	1																																		FAM83H_uc010mfk.1_RNA	1	1		benign(0.002)	p.R911H	NM_198488	NP_940890		tolerated(0.11)	1	FA83H_HUMAN	FAM83H	HGNC	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		F4ZCG5_HUMAN		5	2801	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		UPI00001D823F	911					SNV	FAM83H,missense_variant,p.Arg911His,ENST00000388913,NM_198488.3;MAPK15,downstream_gene_variant,,ENST00000338033,NM_139021.2;FAM83H,missense_variant,p.Arg638His,ENST00000395103,;MAPK15,downstream_gene_variant,,ENST00000484654,;MAPK15,downstream_gene_variant,,ENST00000461928,;MAPK15,downstream_gene_variant,,ENST00000528175,;	uc003yzk.2	c.2732G>A	2858/5654	2	2			c.2732G>A						8	SNP	c.(2731-2733)CGC>CAC	48	48			lung(1)|central_nervous_system(1)|pancreas(1)	3	Broad	FAM83H			144808899		0.682	ENSG00000180921	5539	g.chr8:144808899C>T	biomineral tissue development									56.119315	KEEP	13	9	-1	11	10	13	9	-1	56.125012	11	10	0.487179	1	0	0	0	0	1	0	0	0	--	--		0	T			FAM83H_uc010mfk.1_RNA	265	GBM-76-4925-TP	p.R911H	C	ACTACCCCTGCGCTCGGGGTA	NM_198488	NP_940890	144808899	Q6ZRV2	FA83H_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	2801	-	T	T	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	911						
FAM83H	0	broad.mit.edu	GRCh37	8	144808629	144808629	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01	TCGA-76-4935-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388913.3:c.3002G>A	p.Arg1001His	p.R1001H	ENST00000388913	NM_198488.3	1001	cGt/cAt	0		T:0.0008	1	T:0		T	R/H	uc003yzk.2	protein_coding	YES	CCDS6410.2			3002/3540									lung(1)|central_nervous_system(1)|pancreas(1)	3	c.(3001-3003)CGT>CAT			hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF8	FAM83H		T:0		ENSP00000373565	T:0	5-May	8.34E-06								rs572494015,COSM3412808	5-May	.		ENST00000388913	Transcript	1	T:0.0002	biomineral tissue development			ENSG00000180921	g.chr8:144808629C>T	24797			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=FA83H_HUMAN&rb=659&re=1177&var=R1001H	NA	getma.org/?cm=var&var=hg19,8,144808629,C,T&fts=all	R1001H	--	--	1																																		FAM83H_uc010mfk.1_RNA	0,1	1		possibly_damaging(0.755)	p.R1001H	NM_198488	NP_940890	T:0	tolerated(0.07)	0,1	FA83H_HUMAN	FAM83H	HGNC	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		F4ZCG5_HUMAN		5	3071	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		UPI00001D823F	1001					SNV	FAM83H,missense_variant,p.Arg1001His,ENST00000388913,NM_198488.3;MAPK15,downstream_gene_variant,,ENST00000338033,NM_139021.2;FAM83H,missense_variant,p.Arg728His,ENST00000395103,;MAPK15,downstream_gene_variant,,ENST00000484654,;MAPK15,downstream_gene_variant,,ENST00000461928,;MAPK15,downstream_gene_variant,,ENST00000528175,;	uc003yzk.2	c.3002G>A	3128/5654	1	1			c.3002G>A						8	SNP	c.(3001-3003)CGT>CAT	15	15			lung(1)|central_nervous_system(1)|pancreas(1)	3	Broad	FAM83H			144808629		0.697	ENSG00000180921	5539	g.chr8:144808629C>T	biomineral tissue development									36.970091	KEEP	8	5	-1	2	5	8	5	-1	37.766351	2	5	0.722222	1	0	0	0	0	1	0	0	0	--	--		0	T			FAM83H_uc010mfk.1_RNA	273	GBM-76-4935-TP	p.R1001H	C	CAGTGACAGACGCCGCGGGCT	NM_198488	NP_940890	144808629	Q6ZRV2	FA83H_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	3071	-	T	T	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	1001						
FAM83H	286077		GRCh37	8	144808270	144808270	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000388913.3:c.3361C>T	p.Arg1121Cys	p.R1121C	ENST00000388913	NM_198488.3	1121	Cgc/Tgc	0																																																																																																																																																																																																																																												
FAM86A			GRCh37	16	5143514	5143514	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000427587.4:c.211C>T	p.Arg71Trp	p.R71W	ENST00000427587	NM_201400.2	71	Cgg/Tgg	0																																																																																																																																																																																																																																												
FAM90A1	0	broad.mit.edu	GRCh37	12	8376154	8376154	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T			TCGA-27-2528-01	TCGA-27-2528-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307435.6:c.324-1G>A		p.X108_splice	ENST00000307435				0			1			T		uc001qui.2	protein_coding		CCDS31738.1			324/1395									ovary(1)	1	c.e6-1				hypothetical protein LOC55138				ENSP00000307798			6.59E-05							0.000487	rs747393897,COSM3399142		common_variant		ENST00000307435	Transcript					nucleic acid binding|zinc ion binding	ENSG00000171847	g.chr12:8376154C>T	25526			HIGH	5-Apr							--	--	1																																		FAM90A1_uc001quh.2_Splice_Site_p.R108_splice	0,1				p.R108_splice	NM_018088	NP_060558			0,1	F90A1_HUMAN	FAM90A1	HGNC	Q86YD7	F90A1_HUMAN		Kidney(36;0.0866)			6	883	-			UPI000013EC10						SNV	FAM90A1,splice_acceptor_variant,,ENST00000538603,NM_018088.3;FAM90A1,splice_acceptor_variant,,ENST00000307435,;FAM90A1,downstream_gene_variant,,ENST00000442295,;RP11-266K4.1,upstream_gene_variant,,ENST00000542600,;ALG1L10P,upstream_gene_variant,,ENST00000437882,;	uc001qui.2	c.324_splice	-/2342	5	2			c.324_splice						12	SNP	c.e6-1	47	47			ovary(1)	1	Broad	hypothetical protein LOC55138			8376154		0.542	ENSG00000171847	5548	g.chr12:8376154C>T			nucleic acid binding|zinc ion binding							45.791544	KEEP	9	8	-1	20	27	9	8	-1	47.937591	20	27	0.290909	1	0	0	0	0	0	0	0	1	--	--		0	T			FAM90A1_uc001quh.2_Splice_Site_p.R108_splice	205	GBM-27-2528-TP	p.R108_splice	C	GTCTTGTGGCCTGCAGAACAG	NM_018088	NP_060558	8376154	Q86YD7	F90A1_HUMAN	0		Kidney(36;0.0866)	6	883	-	T	T			Splice_Site							
FAM92A1	0	broad.mit.edu	GRCh37	8	94713461	94713461	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-41-2572-01	TCGA-41-2572-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000518322.1:c.36A>G	p.Gln12=	p.Q12=	ENST00000518322	NM_145269.3	12	caA/caG	0			1			G	Q	uc010maq.2	protein_coding	YES	CCDS47892.1			36/870										0	c.(34-36)CAA>CAG			Superfamily_domains:SSF103657,Pfam_domain:PF06730,hmmpanther:PTHR21223:SF4,hmmpanther:PTHR21223	hypothetical protein LOC137392				ENSP00000429367		9-Feb									COSM3413162	9-Feb	.		ENST00000518322	Transcript						ENSG00000188343	g.chr8:94713461A>G	30452			LOW								--	--	1																																		FAM92A1_uc003yfu.1_RNA|FAM92A1_uc003yfv.3_RNA	1	1			p.Q12Q	NM_145269	NP_660312			1	F92A1_HUMAN	FAM92A1	HGNC	A1XBS5	F92A1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		E5RID3_HUMAN,E5RHA4_HUMAN,E5RGE3_HUMAN,E5RFS7_HUMAN,E5RFH7_HUMAN		2	139	+	Breast(36;2.4e-06)		UPI000156FA8B	12					SNV	FAM92A1,synonymous_variant,p.=,ENST00000518322,NM_145269.3;FAM92A1,synonymous_variant,p.=,ENST00000522324,;FAM92A1,synonymous_variant,p.=,ENST00000423990,NM_001283034.1;FAM92A1,synonymous_variant,p.=,ENST00000522803,;FAM92A1,synonymous_variant,p.=,ENST00000523453,;FAM92A1,5_prime_UTR_variant,,ENST00000520955,;FAM92A1,5_prime_UTR_variant,,ENST00000523475,;FAM92A1,5_prime_UTR_variant,,ENST00000518829,;FAM92A1,upstream_gene_variant,,ENST00000517718,;FAM92A1,upstream_gene_variant,,ENST00000521641,;FAM92A1,upstream_gene_variant,,ENST00000519135,;LINC00535,upstream_gene_variant,,ENST00000501400,;FAM92A1,synonymous_variant,p.=,ENST00000518116,;FAM92A1,synonymous_variant,p.=,ENST00000452913,;FAM92A1,synonymous_variant,p.=,ENST00000359421,;FAM92A1,synonymous_variant,p.=,ENST00000520937,;FAM92A1,non_coding_transcript_exon_variant,,ENST00000523577,;	uc010maq.2	c.36A>G	177/4241	4	4			c.36A>G						8	SNP	c.(34-36)CAA>CAG	29	29				0	Broad	hypothetical protein LOC137392			94713461		0.453	ENSG00000188343	5550	g.chr8:94713461A>G										43.893172	KEEP	9	4	-1	11	11	9	4	-1	44.331811	11	11	0.375	1	0	0	0	0	0	0	1	0	--	--		0	G			FAM92A1_uc003yfu.1_RNA|FAM92A1_uc003yfv.3_RNA	251	GBM-41-2572-TP	p.Q12Q	A	GGAACGCTCAAACGAAACAAC	NM_145269	NP_660312	94713461	A1XBS5	F92A1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(8;0.0168)		2	139	+	G	G	Breast(36;2.4e-06)		Silent	12						
FAM92B	339145		GRCh37	16	85132864	85132864	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000539556.1:c.842T>G	p.Val281Gly	p.V281G	ENST00000539556	NM_198491.1	281	gTg/gGg	0																																																																																																																																																																																																																																												
FAM98A	25940	broad.mit.edu	GRCh37	2	33813426	33813426	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0171-01	TCGA-06-0171-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000238823.8:c.498A>G	p.Gln166=	p.Q166=	ENST00000238823		166	caA/caG	0			1			C	Q	uc002rpa.1	protein_coding	YES	CCDS33179.1			498/1557									ovary(1)	1	c.(496-498)CAA>CAG			hmmpanther:PTHR31353,hmmpanther:PTHR31353:SF6,Pfam_domain:PF10239	hypothetical protein LOC25940				ENSP00000238823		8-Apr	3.29E-05					6.00E-05			rs561820764,COSM2150332	8-Apr	.		ENST00000238823	Transcript						ENSG00000119812	g.chr2:33813426T>C	24520			LOW								--	--	1																																		FAM98A_uc010yne.1_Intron|FAM98A_uc010ynd.1_5'Flank|FAM98A_uc002roz.1_Silent_p.Q43Q	0,1	1			p.Q166Q	NM_015475	NP_056290			0,1	FA98A_HUMAN	FAM98A	HGNC	Q8NCA5	FA98A_HUMAN			C9J3G8_HUMAN,B4DT23_HUMAN		4	572	-	all_hematologic(175;0.115)		UPI000013F15A	166					SNV	FAM98A,synonymous_variant,p.=,ENST00000403368,NM_015475.3;FAM98A,synonymous_variant,p.=,ENST00000238823,;FAM98A,intron_variant,,ENST00000441530,;FAM98A,intron_variant,,ENST00000498340,;FAM98A,non_coding_transcript_exon_variant,,ENST00000474985,;FAM98A,upstream_gene_variant,,ENST00000475122,;FAM98A,downstream_gene_variant,,ENST00000464415,;FAM98A,upstream_gene_variant,,ENST00000492649,;	uc002rpa.1	c.498A>G	639/2816	4	4			c.498A>G						2	SNP	c.(496-498)CAA>CAG	36	36			ovary(1)	1	Broad	hypothetical protein LOC25940			33813426		0.363	ENSG00000119812	5554	g.chr2:33813426T>C										289.520832	KEEP	66	53	-1	144	107	66	53	-1	296.479454	144	107	0.325581	1	0	0	0	0	0	0	1	0	--	--		0	C			FAM98A_uc010yne.1_Intron|FAM98A_uc010ynd.1_5'Flank|FAM98A_uc002roz.1_Silent_p.Q43Q	35	GBM-06-0171-TP	p.Q166Q	T	CGCTGAAGAATTGGAACATAG	NM_015475	NP_056290	33813426	Q8NCA5	FA98A_HUMAN	0			4	572	-	C	C	all_hematologic(175;0.115)		Silent	166						
FAM98A	0	broad.mit.edu	GRCh37	2	33810356	33810356	+	synonymous_variant	Silent	SNP	G	G	A	rs34080556		TCGA-12-1597-01	TCGA-12-1597-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000238823.8:c.1044C>T	p.Tyr348=	p.Y348=	ENST00000238823		348	taC/taT	0			1			A	Y	uc002rpa.1	protein_coding	YES	CCDS33179.1			1044/1557									ovary(1)	1	c.(1042-1044)TAC>TAT			Low_complexity_(Seg):seg,hmmpanther:PTHR31353,hmmpanther:PTHR31353:SF6	hypothetical protein LOC25940				ENSP00000238823		8-Aug	7.41E-05	9.61E-05	0.000173			8.99E-05			rs34080556,COSM3407839	8-Aug	.		ENST00000238823	Transcript						ENSG00000119812	g.chr2:33810356G>A	24520			LOW								--	--	1																																		FAM98A_uc010yne.1_Silent_p.Y153Y|FAM98A_uc010ynd.1_Silent_p.Y179Y|FAM98A_uc002roz.1_Silent_p.Y186Y	0,1	1			p.Y348Y	NM_015475	NP_056290			0,1	FA98A_HUMAN	FAM98A	HGNC	Q8NCA5	FA98A_HUMAN			C9J3G8_HUMAN,B4DT23_HUMAN		8	1118	-	all_hematologic(175;0.115)		UPI000013F15A	349			Gly-rich.		SNV	FAM98A,synonymous_variant,p.=,ENST00000238823,;FAM98A,synonymous_variant,p.=,ENST00000441530,;FAM98A,3_prime_UTR_variant,,ENST00000403368,NM_015475.3;FAM98A,downstream_gene_variant,,ENST00000498340,;FAM98A,non_coding_transcript_exon_variant,,ENST00000474985,;FAM98A,non_coding_transcript_exon_variant,,ENST00000475122,;FAM98A,downstream_gene_variant,,ENST00000492649,;	uc002rpa.1	c.1044C>T	1185/2816	1	1			c.1044C>T						2	SNP	c.(1042-1044)TAC>TAT	50	50			ovary(1)	1	Broad	hypothetical protein LOC25940			33810356		0.597	ENSG00000119812	5554	g.chr2:33810356G>A										64.162773	KEEP	22	8	-1	44	33	22	8	-1	68.422169	44	33	0.269663	1	0	0	0	0	0	0	1	0	--	--		0	A			FAM98A_uc010yne.1_Silent_p.Y153Y|FAM98A_uc010ynd.1_Silent_p.Y179Y|FAM98A_uc002roz.1_Silent_p.Y186Y	124	GBM-12-1597-TP	p.Y348Y	G	CTCGTCCTCCGTATGAGGAAT	NM_015475	NP_056290	33810356	Q8NCA5	FA98A_HUMAN	0			8	1118	-	A	A	all_hematologic(175;0.115)		Silent	349			Gly-rich.			
FAM98C	147965		GRCh37	19	38899502	38899504	+	inframe_deletion	In_Frame_Del	DEL	AAG	AAG	-			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000252530.5:c.1045_1047del	p.Lys349del	p.K349del	ENST00000252530	NM_174905.3	344	AAG/-	0																																																																																																																																																																																																																																												
FAN1	0	broad.mit.edu	GRCh37	15	31197005	31197005	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-2513-01	TCGA-28-2513-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000362065.4:c.139T>C	p.Cys47Arg	p.C47R	ENST00000362065	NM_014967.4	47	Tgc/Cgc	0			1			C	C/R	uc001zff.2	protein_coding	YES	CCDS32186.1			139/3054										0	c.(139-141)TGC>CGC		Direct_reversal_of_damage|Editing_and_processing_nucleases	hmmpanther:PTHR15749:SF4,hmmpanther:PTHR15749,SMART_domains:SM00734	myotubularin related protein 15 isoform a				ENSP00000354497		15-Feb									COSM3401666,COSM3401667	15-Feb	.		ENST00000362065	Transcript	1		double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	ENSG00000198690	g.chr15:31197005T>C	29170			MODERATE		2.135	medium	getma.org/?cm=msa&ty=f&p=FAN1_HUMAN&rb=1&re=65&var=C47R	NA	getma.org/?cm=var&var=hg19,15,31197005,T,C&fts=all	C47R	--	--	1																																		MTMR15_uc001zfc.3_Missense_Mutation_p.C47R|MTMR15_uc010azw.2_Missense_Mutation_p.C47R|MTMR15_uc001zfd.3_Missense_Mutation_p.C47R|MTMR15_uc001zfe.2_5'UTR	1,1	1		possibly_damaging(0.885)	p.C47R	NM_014967	NP_055782		deleterious(0)	1,1	FAN1_HUMAN	FAN1	HGNC	Q9Y2M0	FAN1_HUMAN		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)			2	430	+		all_lung(180;2.23e-09)	UPI000006D713	47	C->A: Abolishes interaction with monoubiquitinated FANCD2; when associated with A-44.		UBZ-type.		SNV	FAN1,missense_variant,p.Cys47Arg,ENST00000362065,NM_014967.4;FAN1,missense_variant,p.Cys47Arg,ENST00000561594,NM_001146095.1;FAN1,missense_variant,p.Cys47Arg,ENST00000561607,NM_001146094.1,NM_001146096.1;FAN1,missense_variant,p.Cys47Arg,ENST00000565466,;FAN1,intron_variant,,ENST00000562892,;FAN1,missense_variant,p.Cys47Arg,ENST00000565280,;RP11-540B6.3,downstream_gene_variant,,ENST00000565492,;	uc001zff.2	c.139T>C	430/4891	3	3			c.139T>C						15	SNP	c.(139-141)TGC>CGC	13	13				0	Broad	myotubularin related protein 15 isoform a	Direct_reversal_of_damage|Editing_and_processing_nucleases		31197005		0.403	ENSG00000198690	9761	g.chr15:31197005T>C	double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding							51.146658	KEEP	12	11	-1	59	54	12	11	-1	63.500373	59	54	0.179687	1	0	0	0	0	1	0	0	0	--	--		0	C			MTMR15_uc001zfc.3_Missense_Mutation_p.C47R|MTMR15_uc010azw.2_Missense_Mutation_p.C47R|MTMR15_uc001zfd.3_Missense_Mutation_p.C47R|MTMR15_uc001zfe.2_5'UTR	213	GBM-28-2513-TP	p.C47R	T	CTGCCCCGTTTGCAGTAAAAT	NM_014967	NP_055782	31197005	Q9Y2M0	FAN1_HUMAN	0		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)	2	430	+	C	C		all_lung(180;2.23e-09)	Missense_Mutation	47	C->A: Abolishes interaction with monoubiquitinated FANCD2; when associated with A-44.		UBZ-type.			
FANCD2	2177	broad.mit.edu	GRCh37	3	10107617	10107617	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2561-01	TCGA-06-2561-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000287647.3:c.2339C>T	p.Ser780Leu	p.S780L	ENST00000287647	NM_033084.3	780	tCa/tTa	0			1			T	S/L	uc003buw.2	protein_coding		CCDS33696.1			2339/4356	D|Mis|N|F			AML|leukemia					central_nervous_system(2)|ovary(1)|skin(1)	4	c.(2338-2340)TCA>TTA		Involved_in_tolerance_or_repair_of_DNA_crosslinks	hmmpanther:PTHR32086,Pfam_domain:PF14631	Fanconi anemia complementation group D2 isoform				ENSP00000373318		25/44									COSM2152756,COSM2152757	25/44	.	Fanconi_Anemia	ENST00000383807	Transcript	1		DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding	ENSG00000144554	g.chr3:10107617C>T	3585			MODERATE		1.95	medium	getma.org/?cm=msa&ty=f&p=FACD2_HUMAN&rb=1&re=1470&var=S780L	getma.org/pdb.php?prot=FACD2_HUMAN&from=1&to=1470&var=S780L	getma.org/?cm=var&var=hg19,3,10107617,C,T&fts=all	S780L	--	--	1																																		FANCD2_uc003bux.1_Missense_Mutation_p.S780L|FANCD2_uc003buy.1_Missense_Mutation_p.S780L|FANCD2_uc010hcw.1_RNA	1,1			possibly_damaging(0.733)	p.S780L	NM_033084	NP_149075		deleterious(0.01)	1,1	FACD2_HUMAN	FANCD2	HGNC	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)			25	2417	+			UPI000006CD51	780					SNV	FANCD2,missense_variant,p.Ser780Leu,ENST00000287647,NM_033084.3;FANCD2,missense_variant,p.Ser780Leu,ENST00000419585,;FANCD2,missense_variant,p.Ser780Leu,ENST00000383807,NM_001018115.1;FANCD2,missense_variant,p.Ser780Leu,ENST00000383806,;FANCD2,non_coding_transcript_exon_variant,,ENST00000470757,;FANCD2,missense_variant,p.Ser280Leu,ENST00000421731,;FANCD2,non_coding_transcript_exon_variant,,ENST00000480909,;	uc003buw.2	c.2339C>T	2417/5102	1	1			c.2339C>T	D|Mis|N|F			AML|leukemia		3	SNP	c.(2338-2340)TCA>TTA	7	7			central_nervous_system(2)|ovary(1)|skin(1)	4	Broad	Fanconi anemia complementation group D2 isoform	Involved_in_tolerance_or_repair_of_DNA_crosslinks		10107617	Fanconi_Anemia	0.403	ENSG00000144554	5563	g.chr3:10107617C>T	DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			587			587	69.243256	KEEP	10	24	-1	42	53	10	24	-1	75.260238	42	53	0.254545	1	0	0	0	0	1	0	0	0	--	--		0	T			FANCD2_uc003bux.1_Missense_Mutation_p.S780L|FANCD2_uc003buy.1_Missense_Mutation_p.S780L|FANCD2_uc010hcw.1_RNA	84	GBM-06-2561-TP	p.S780L	C	AAAGAGCGTTCATTCATGTGT	NM_033084	NP_149075	10107617	Q9BXW9	FACD2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(96;0.148)	25	2417	+	T	T			Missense_Mutation	780						
FANCD2	0	broad.mit.edu	GRCh37	3	10108908	10108908	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-27-2527-01	TCGA-27-2527-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000383807.1:c.2401T>C	p.Cys801Arg	p.C801R	ENST00000383807	NM_001018115.1	801	Tgc/Cgc	0			1			C	C/R	uc003buw.2	protein_coding		CCDS33696.1			2401/4356	D|Mis|N|F			AML|leukemia					central_nervous_system(2)|ovary(1)|skin(1)	4	c.(2401-2403)TGC>CGC		Involved_in_tolerance_or_repair_of_DNA_crosslinks	hmmpanther:PTHR32086,Pfam_domain:PF14631	Fanconi anemia complementation group D2 isoform				ENSP00000373318		26/44									COSM3408075,COSM3408076	26/44	.	Fanconi_Anemia	ENST00000383807	Transcript	1		DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding	ENSG00000144554	g.chr3:10108908T>C	3585			MODERATE		2.44	medium	getma.org/?cm=msa&ty=f&p=FACD2_HUMAN&rb=1&re=1470&var=C801R	getma.org/pdb.php?prot=FACD2_HUMAN&from=1&to=1470&var=C801R	getma.org/?cm=var&var=hg19,3,10108908,T,C&fts=all	C801R	--	--	1																																		FANCD2_uc003bux.1_Missense_Mutation_p.C801R|FANCD2_uc003buy.1_Missense_Mutation_p.C801R|FANCD2_uc010hcw.1_RNA	1,1			probably_damaging(0.982)	p.C801R	NM_033084	NP_149075		deleterious(0)	1,1	FACD2_HUMAN	FANCD2	HGNC	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)			26	2479	+			UPI000006CD51	801					SNV	FANCD2,missense_variant,p.Cys801Arg,ENST00000287647,NM_033084.3;FANCD2,missense_variant,p.Cys801Arg,ENST00000419585,;FANCD2,missense_variant,p.Cys801Arg,ENST00000383807,NM_001018115.1;FANCD2,missense_variant,p.Cys801Arg,ENST00000383806,;FANCD2,intron_variant,,ENST00000470757,;FANCD2,missense_variant,p.Cys301Arg,ENST00000421731,;FANCD2,non_coding_transcript_exon_variant,,ENST00000480909,;	uc003buw.2	c.2401T>C	2479/5102	3	3			c.2401T>C	D|Mis|N|F			AML|leukemia		3	SNP	c.(2401-2403)TGC>CGC	10	10			central_nervous_system(2)|ovary(1)|skin(1)	4	Broad	Fanconi anemia complementation group D2 isoform	Involved_in_tolerance_or_repair_of_DNA_crosslinks		10108908	Fanconi_Anemia	0.378	ENSG00000144554	5563	g.chr3:10108908T>C	DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			587			587	22.708689	KEEP	7	7	-1	31	27	7	7	-1	29.476594	31	27	0.16129	1	0	0	0	0	1	0	0	0	--	--		0	C			FANCD2_uc003bux.1_Missense_Mutation_p.C801R|FANCD2_uc003buy.1_Missense_Mutation_p.C801R|FANCD2_uc010hcw.1_RNA	204	GBM-27-2527-TP	p.C801R	T	AAATGCCTTCTGCCAGGAAAC	NM_033084	NP_149075	10108908	Q9BXW9	FACD2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(96;0.148)	26	2479	+	C	C			Missense_Mutation	801						
FANCI	55215	broad.mit.edu	GRCh37	15	89859631	89859631	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0241-01	TCGA-06-0241-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310775.7:c.3928A>G	p.Thr1310Ala	p.T1310A	ENST00000310775	NM_001113378.1	1310	Act/Gct	0			1			G	T/A	uc010bnp.1	protein_coding	YES	CCDS45346.1			3928/3987									ovary(2)	2	c.(3928-3930)ACT>GCT		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	hmmpanther:PTHR21818,hmmpanther:PTHR21818:SF0	Fanconi anemia, complementation group I isoform				ENSP00000310842		38/38									COSM2151173,COSM2151172	38/38	.	Fanconi_Anemia	ENST00000310775	Transcript	1		cell cycle|DNA repair	nucleoplasm	protein binding	ENSG00000140525	g.chr15:89859631A>G	25568			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=FANCI_HUMAN&rb=1&re=1326&var=T1310A	NA	getma.org/?cm=var&var=hg19,15,89859631,A,G&fts=all	T1310A	--	--	1																																		FANCI_uc002bnm.1_Missense_Mutation_p.T1250A|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Missense_Mutation_p.T1070A|FANCI_uc002bnq.1_Missense_Mutation_p.T723A|POLG_uc002bns.3_3'UTR|POLG_uc002bnr.3_3'UTR	1,1	1		benign(0.008)	p.T1310A	NM_001113378	NP_001106849		tolerated_low_confidence(0.15)	1,1	FANCI_HUMAN	FANCI	HGNC	Q9NVI1	FANCI_HUMAN			H3BT54_HUMAN,H3BS60_HUMAN,H3BQE2_HUMAN		38	4018	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		UPI00001FEB1D	1310					SNV	FANCI,missense_variant,p.Thr1310Ala,ENST00000310775,NM_001113378.1;FANCI,missense_variant,p.Thr1250Ala,ENST00000300027,NM_018193.2;FANCI,missense_variant,p.Thr1076Ala,ENST00000561894,;POLG,3_prime_UTR_variant,,ENST00000268124,NM_001126131.1,NM_002693.2;POLG,3_prime_UTR_variant,,ENST00000442287,;FANCI,non_coding_transcript_exon_variant,,ENST00000566615,;FANCI,downstream_gene_variant,,ENST00000565522,;FANCI,3_prime_UTR_variant,,ENST00000447611,;POLG,3_prime_UTR_variant,,ENST00000530292,;FANCI,non_coding_transcript_exon_variant,,ENST00000566895,;POLG,downstream_gene_variant,,ENST00000526671,;POLG,downstream_gene_variant,,ENST00000528881,;POLG,downstream_gene_variant,,ENST00000530715,;	uc010bnp.1	c.3928A>G	4014/4743	3	3			c.3928A>G						15	SNP	c.(3928-3930)ACT>GCT	60	60			ovary(2)	2	Broad	Fanconi anemia, complementation group I isoform	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks		89859631	Fanconi_Anemia	0.398	ENSG00000140525	5567	g.chr15:89859631A>G	cell cycle|DNA repair	nucleoplasm	protein binding			1164			1164	36.356282	KEEP	12	5	-1	19	19	12	5	-1	38.466685	19	19	0.276596	1	0	0	0	0	1	0	0	0	--	--		0	G			FANCI_uc002bnm.1_Missense_Mutation_p.T1250A|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Missense_Mutation_p.T1070A|FANCI_uc002bnq.1_Missense_Mutation_p.T723A|POLG_uc002bns.3_3'UTR|POLG_uc002bnr.3_3'UTR	57	GBM-06-0241-TP	p.T1310A	A	CTTCTAGGGCACTGCATCAGA	NM_001113378	NP_001106849	89859631	Q9NVI1	FANCI_HUMAN	0			38	4018	+	G	G	Lung NSC(78;0.0472)|all_lung(78;0.089)		Missense_Mutation	1310						
FANCM	57697	broad.mit.edu	GRCh37	14	45657010	45657010	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0155-01	TCGA-06-0155-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267430.5:c.4699A>G	p.Lys1567Glu	p.K1567E	ENST00000267430	NM_020937.2	1567	Aaa/Gaa	0			1			G	K/E	uc001wwd.3	protein_coding	YES	CCDS32070.1			4699/6147									ovary(3)|lung(2)|breast(2)	7	c.(4699-4701)AAA>GAA		Involved_in_tolerance_or_repair_of_DNA_crosslinks	hmmpanther:PTHR14025,hmmpanther:PTHR14025:SF20	Fanconi anemia, complementation group M				ENSP00000267430		19/23									COSM2149976	19/23	.	Fanconi_Anemia	ENST00000267430	Transcript	1		DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	ENSG00000187790	g.chr14:45657010A>G	23168			MODERATE		2.32	medium	getma.org/?cm=msa&ty=f&p=FANCM_HUMAN&rb=1429&re=1628&var=K1567E	NA	getma.org/?cm=var&var=hg19,14,45657010,A,G&fts=all	K1567E	--	--	1																																		FANCM_uc010anf.2_Missense_Mutation_p.K1541E|FANCM_uc001wwe.3_Missense_Mutation_p.K1103E|FANCM_uc010ang.2_Missense_Mutation_p.K781E	1	1		probably_damaging(0.922)	p.K1567E	NM_020937	NP_065988		deleterious(0.03)	1	FANCM_HUMAN	FANCM	HGNC	Q8IYD8	FANCM_HUMAN					19	4798	+			UPI000059F032	1567					SNV	FANCM,missense_variant,p.Lys1567Glu,ENST00000267430,NM_020937.2;FANCM,missense_variant,p.Lys1541Glu,ENST00000542564,;FANCM,missense_variant,p.Lys1083Glu,ENST00000556250,;FANCM,missense_variant,p.Lys500Glu,ENST00000554809,;FANCM,non_coding_transcript_exon_variant,,ENST00000555013,;	uc001wwd.3	c.4699A>G	4784/7111	3	3			c.4699A>G						14	SNP	c.(4699-4701)AAA>GAA	56	56			ovary(3)|lung(2)|breast(2)	7	Broad	Fanconi anemia, complementation group M	Involved_in_tolerance_or_repair_of_DNA_crosslinks		45657010	Fanconi_Anemia	0.254	ENSG00000187790	5569	g.chr14:45657010A>G	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			793			793	36.907828	KEEP	10	7	-1	35	28	10	7	-1	42.973617	35	28	0.197183	1	0	0	0	0	1	0	0	0	--	--		0	G			FANCM_uc010anf.2_Missense_Mutation_p.K1541E|FANCM_uc001wwe.3_Missense_Mutation_p.K1103E|FANCM_uc010ang.2_Missense_Mutation_p.K781E	27	GBM-06-0155-TP	p.K1567E	A	TATTTACATGAAATCTTTGCG	NM_020937	NP_065988	45657010	Q8IYD8	FANCM_HUMAN	0			19	4798	+	G	G			Missense_Mutation	1567						
FANCM	57697	broad.mit.edu	GRCh37	14	45665510	45665510	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0648-01	TCGA-06-0648-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267430.5:c.5476G>A	p.Glu1826Lys	p.E1826K	ENST00000267430	NM_020937.2	1826	Gaa/Aaa	0			1			A	E/K	uc001wwd.3	protein_coding	YES	CCDS32070.1			5476/6147									ovary(3)|lung(2)|breast(2)	7	c.(5476-5478)GAA>AAA		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Gene3D:1j23A00,hmmpanther:PTHR14025,hmmpanther:PTHR14025:SF20,SMART_domains:SM00891,Superfamily_domains:SSF52980	Fanconi anemia, complementation group M				ENSP00000267430		21/23									COSM3401318	21/23	.	Fanconi_Anemia	ENST00000267430	Transcript	1		DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	ENSG00000187790	g.chr14:45665510G>A	23168			MODERATE		2.33	medium	getma.org/?cm=msa&ty=f&p=FANCM_HUMAN&rb=1809&re=2045&var=E1826K	getma.org/pdb.php?prot=FANCM_HUMAN&from=1809&to=2045&var=E1826K	getma.org/?cm=var&var=hg19,14,45665510,G,A&fts=all	E1826K	--	--	1																																		FANCM_uc010anf.2_Missense_Mutation_p.E1800K|FANCM_uc001wwe.3_Missense_Mutation_p.E1362K|FANCM_uc010ang.2_Missense_Mutation_p.E1075K	1	1		probably_damaging(0.989)	p.E1826K	NM_020937	NP_065988		deleterious(0)	1	FANCM_HUMAN	FANCM	HGNC	Q8IYD8	FANCM_HUMAN					21	5575	+			UPI000059F032	1826			Interaction with FAAP24 and EME1.		SNV	FANCM,missense_variant,p.Glu1826Lys,ENST00000267430,NM_020937.2;FANCM,missense_variant,p.Glu1800Lys,ENST00000542564,;FANCM,missense_variant,p.Glu1342Lys,ENST00000556250,;FANCM,missense_variant,p.Glu794Lys,ENST00000554809,;FANCM,upstream_gene_variant,,ENST00000555484,;FANCM,missense_variant,p.Glu46Lys,ENST00000557110,;FANCM,upstream_gene_variant,,ENST00000553551,;	uc001wwd.3	c.5476G>A	5561/7111	1	1			c.5476G>A						14	SNP	c.(5476-5478)GAA>AAA	57	57			ovary(3)|lung(2)|breast(2)	7	Broad	Fanconi anemia, complementation group M	Involved_in_tolerance_or_repair_of_DNA_crosslinks		45665510	Fanconi_Anemia	0.418	ENSG00000187790	5569	g.chr14:45665510G>A	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			793			793	-48.775352	KEEP	4	3	-1	129	122	4	3	-1	9.856704	129	122	0.025532	1	0	0	0	0	1	0	0	0	--	--		0	A			FANCM_uc010anf.2_Missense_Mutation_p.E1800K|FANCM_uc001wwe.3_Missense_Mutation_p.E1362K|FANCM_uc010ang.2_Missense_Mutation_p.E1075K	61	GBM-06-0648-TP	p.E1826K	G	AGGTGGTCATGAAATCACTTC	NM_020937	NP_065988	45665510	Q8IYD8	FANCM_HUMAN	0			21	5575	+	A	A			Missense_Mutation	1826			Interaction with FAAP24 and EME1.			
FANCM	0	broad.mit.edu	GRCh37	14	45605251	45605251	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01	TCGA-12-1597-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267430.5:c.17G>A	p.Arg6Lys	p.R6K	ENST00000267430	NM_020937.2	6	aGa/aAa	0			1			A	R/K	uc001wwd.3	protein_coding	YES	CCDS32070.1			17/6147									ovary(3)|lung(2)|breast(2)	7	c.(16-18)AGA>AAA		Involved_in_tolerance_or_repair_of_DNA_crosslinks	hmmpanther:PTHR14025,hmmpanther:PTHR14025:SF20	Fanconi anemia, complementation group M				ENSP00000267430		23-Jan									COSM3401316	23-Jan	.	Fanconi_Anemia	ENST00000267430	Transcript	1		DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	ENSG00000187790	g.chr14:45605251G>A	23168			MODERATE		1.385	low	getma.org/?cm=msa&ty=f&p=FANCM_HUMAN&rb=1&re=91&var=R6K	NA	getma.org/?cm=var&var=hg19,14,45605251,G,A&fts=all	R6K	--	--	1																																		FANCM_uc001wwc.2_Missense_Mutation_p.R6K|FANCM_uc010anf.2_Missense_Mutation_p.R6K|FKBP3_uc010tqf.1_5'Flank	1	1		possibly_damaging(0.573)	p.R6K	NM_020937	NP_065988		deleterious(0.01)	1	FANCM_HUMAN	FANCM	HGNC	Q8IYD8	FANCM_HUMAN					1	116	+			UPI000059F032	6					SNV	FANCM,missense_variant,p.Arg6Lys,ENST00000267430,NM_020937.2;FANCM,missense_variant,p.Arg6Lys,ENST00000542564,;FANCM,missense_variant,p.Arg6Lys,ENST00000556036,;FKBP3,upstream_gene_variant,,ENST00000216330,;FKBP3,upstream_gene_variant,,ENST00000396062,NM_002013.3;FANCM,upstream_gene_variant,,ENST00000554030,;FKBP3,upstream_gene_variant,,ENST00000556231,;FKBP3,upstream_gene_variant,,ENST00000557324,;	uc001wwd.3	c.17G>A	102/7111	2	2			c.17G>A						14	SNP	c.(16-18)AGA>AAA	21	21			ovary(3)|lung(2)|breast(2)	7	Broad	Fanconi anemia, complementation group M	Involved_in_tolerance_or_repair_of_DNA_crosslinks		45605251	Fanconi_Anemia	0.582	ENSG00000187790	5569	g.chr14:45605251G>A	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			793			793	114.469851	KEEP	18	26	-1	38	34	18	26	-1	115.751536	38	34	0.38	1	0	0	0	0	1	0	0	0	--	--		0	A			FANCM_uc001wwc.2_Missense_Mutation_p.R6K|FANCM_uc010anf.2_Missense_Mutation_p.R6K|FKBP3_uc010tqf.1_5'Flank	124	GBM-12-1597-TP	p.R6K	G	GGACGGCAAAGAACGCTTTTT	NM_020937	NP_065988	45605251	Q8IYD8	FANCM_HUMAN	0			1	116	+	A	A			Missense_Mutation	6						
FAP	0	broad.mit.edu	GRCh37	2	163070563	163070563	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-32-1977-01	TCGA-32-1977-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000188790.4:c.887T>A	p.Leu296His	p.L296H	ENST00000188790	NM_004460.2	296	cTc/cAc	0			1			T	L/H	uc002ucd.2	protein_coding	YES	CCDS33311.1			887/2283									ovary(3)	3	c.(886-888)CTC>CAC			Gene3D:2.140.10.30,Pfam_domain:PF00930,hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF111,Superfamily_domains:SSF82171	fibroblast activation protein, alpha subunit				ENSP00000188790		26-Nov									COSM3406972	26-Nov	.		ENST00000188790	Transcript			endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	ENSG00000078098	g.chr2:163070563A>T	3590			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=SEPR_HUMAN&rb=106&re=473&var=L296H	getma.org/pdb.php?prot=SEPR_HUMAN&from=106&to=473&var=L296H	getma.org/?cm=var&var=hg19,2,163070563,A,T&fts=all	L296H	--	--	1																																		FAP_uc010zct.1_Missense_Mutation_p.L271H|FAP_uc010fpd.2_Intron|FAP_uc010fpe.1_Missense_Mutation_p.L263H	1	1		probably_damaging(0.99)	p.L296H	NM_004460	NP_004451		deleterious(0)	1	SEPR_HUMAN	FAP	HGNC	Q12884	SEPR_HUMAN			C9J131_HUMAN		11	1095	-			UPI00000012A2	296			Extracellular (Potential).		SNV	FAP,missense_variant,p.Leu296His,ENST00000188790,NM_004460.2;FAP,missense_variant,p.Leu271His,ENST00000443424,;FAP,non_coding_transcript_exon_variant,,ENST00000480838,;	uc002ucd.2	c.887T>A	1095/2780	1	1			c.887T>A						2	SNP	c.(886-888)CTC>CAC	5	5			ovary(3)	3	Broad	fibroblast activation protein, alpha subunit			163070563		0.368	ENSG00000078098	5571	g.chr2:163070563A>T	endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity							130.85791	KEEP	20	33	-1	66	93	20	33	-1	140.838012	66	93	0.260417	1	0	0	0	0	1	0	0	0	--	--		0	T			FAP_uc010zct.1_Missense_Mutation_p.L271H|FAP_uc010fpd.2_Intron|FAP_uc010fpe.1_Missense_Mutation_p.L263H	229	GBM-32-1977-TP	p.L296H	A	AACCCACGTGAGCCAACTGAA	NM_004460	NP_004451	163070563	Q12884	SEPR_HUMAN	0			11	1095	-	T	T			Missense_Mutation	296			Extracellular (Potential).			
FAP	0	broad.mit.edu	GRCh37	2	163055364	163055365	+	missense_variant	Missense_Mutation	DNP	GC	GC	AA			TCGA-32-4210-01	TCGA-32-4210-01	GC	GC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000188790.4:c.1304_1305delGCinsTT	p.Ser435Ile	p.S435I	ENST00000188790	NM_004460.2	435	aGC/aTT	0			1			AA	S/I	uc002ucd.2	protein_coding	YES	CCDS33311.1			1304-1305/2283									ovary(3)	3	c.(1303-1305)AGC>ATT			Gene3D:2.140.10.30,Pfam_domain:PF00930,hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF111,Superfamily_domains:SSF82171	fibroblast activation protein, alpha subunit				ENSP00000188790		16/26										16/26	.		ENST00000188790	Transcript			endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	ENSG00000078098	g.chr2:163055364_163055365GC>AA	3590			MODERATE								--	--	1																																		FAP_uc010fpc.2_5'UTR|FAP_uc010zct.1_Missense_Mutation_p.S410I|FAP_uc010fpd.2_5'UTR		1		benign(0.367)	p.S435I	NM_004460	NP_004451		tolerated(0.06)		SEPR_HUMAN	FAP	HGNC	Q12884	SEPR_HUMAN			C9J131_HUMAN		16	1512_1513	-			UPI00000012A2	435			Extracellular (Potential).		substitution	FAP,missense_variant,p.Ser435Ile,ENST00000188790,NM_004460.2;FAP,missense_variant,p.Ser410Ile,ENST00000443424,;FAP,non_coding_transcript_exon_variant,,ENST00000465088,;FAP,upstream_gene_variant,,ENST00000422436,;FAP,upstream_gene_variant,,ENST00000465424,;FAP,upstream_gene_variant,,ENST00000497414,;	uc002ucd.2	c.1304_1305GC>TT	1512-1513/2780	2	2			c.1304_1305GC>TT						2	DNP	c.(1303-1305)AGC>ATT	35	35			ovary(3)	3	Broad	fibroblast activation protein, alpha subunit			163055365		0.371	ENSG00000078098	5571	g.chr2:163055364_163055365GC>AA	endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity							18.248468	KEEP	0	0	-1	0	0	0	0	-1	28.338002	0	0	0.144578	1	0	0	0	0	1	0	0	0	--	--		0	AA			FAP_uc010fpc.2_5'UTR|FAP_uc010zct.1_Missense_Mutation_p.S410I|FAP_uc010fpd.2_5'UTR	245	GBM-32-4210-TP	p.S435I	GC	CACACTTCTTGCTTGGAGGATA	NM_004460	NP_004451	163055364	Q12884	SEPR_HUMAN	0			16	1512_1513	-	AA	AA			Missense_Mutation	435			Extracellular (Potential).			
FAP	2191		GRCh37	2	163074520	163074520	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000188790.4:c.738A>T	p.Arg246Ser	p.R246S	ENST00000188790	NM_004460.2	246	agA/agT	0																																																																																																																																																																																																																																												
FARP1	0	broad.mit.edu	GRCh37	13	99042246	99042246	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-2619-01	TCGA-19-2619-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319562.6:c.891C>T	p.Ala297=	p.A297=	ENST00000319562	NM_005766.2	297	gcC/gcT	0			1			T	A	uc001vnj.2	protein_coding	YES	CCDS9487.1			891/3138									breast(2)	2	c.(889-891)GCC>GCT			PROSITE_profiles:PS50057,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF105,Gene3D:2.30.29.30,Pfam_domain:PF09380,Superfamily_domains:SSF50729	FERM, RhoGEF, and pleckstrin domain protein 1				ENSP00000322926		27-Oct									COSM2156124,COSM2156125	27-Oct	.		ENST00000319562	Transcript			regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	ENSG00000152767	g.chr13:99042246C>T	3591			LOW								--	--	1																																		FARP1_uc001vnh.2_Silent_p.A297A	1,1	1			p.A297A	NM_005766	NP_005757			1,1	FARP1_HUMAN	FARP1	HGNC	Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		M0QYB0_HUMAN		10	1227	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		UPI000007052C	297			FERM.		SNV	FARP1,synonymous_variant,p.=,ENST00000376586,;FARP1,synonymous_variant,p.=,ENST00000595437,NM_001286839.1;FARP1,synonymous_variant,p.=,ENST00000319562,NM_005766.2;FARP1,downstream_gene_variant,,ENST00000601009,;FARP1,downstream_gene_variant,,ENST00000599040,;FARP1,downstream_gene_variant,,ENST00000602263,;FARP1,downstream_gene_variant,,ENST00000593548,;FARP1,downstream_gene_variant,,ENST00000595380,;FARP1,downstream_gene_variant,,ENST00000596467,;FARP1,downstream_gene_variant,,ENST00000490389,;FARP1,upstream_gene_variant,,ENST00000600190,;	uc001vnj.2	c.891C>T	1156/4855	2	2			c.891C>T						13	SNP	c.(889-891)GCC>GCT	35	35			breast(2)	2	Broad	FERM, RhoGEF, and pleckstrin domain protein 1			99042246		0.443	ENSG00000152767	5574	g.chr13:99042246C>T	regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity							338.983353	KEEP	66	54	-1	79	62	66	54	-1	339.39989	79	62	0.454936	1	0	0	0	0	0	0	1	0	--	--		0	T			FARP1_uc001vnh.2_Silent_p.A297A	161	GBM-19-2619-TP	p.A297A	C	TCCTGATGGCCAGTCGGGATT	NM_005766	NP_005757	99042246	Q9Y4F1	FARP1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(86;0.233)		10	1227	+	T	T	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		Silent	297			FERM.			
FARP1	0	broad.mit.edu	GRCh37	13	99061722	99061722	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-2575-01	TCGA-41-2575-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319562.6:c.1545G>A	p.Pro515=	p.P515=	ENST00000319562	NM_005766.2	515	ccG/ccA	0			1			A	P	uc001vnj.2	protein_coding	YES	CCDS9487.1			1545/3138									breast(2)	2	c.(1543-1545)CCG>CCA			hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF105	FERM, RhoGEF, and pleckstrin domain protein 1				ENSP00000322926		14/27	8.24E-06					1.59E-05			rs781763638,COSM3399478,COSM3399479	14/27	.		ENST00000319562	Transcript			regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	ENSG00000152767	g.chr13:99061722G>A	3591			LOW								--	--	1																																		FARP1_uc001vnh.2_Silent_p.P515P	0,1,1	1			p.P515P	NM_005766	NP_005757			0,1,1	FARP1_HUMAN	FARP1	HGNC	Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		M0QYB0_HUMAN		14	1881	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		UPI000007052C	515					SNV	FARP1,synonymous_variant,p.=,ENST00000376586,;FARP1,synonymous_variant,p.=,ENST00000595437,NM_001286839.1;FARP1,synonymous_variant,p.=,ENST00000319562,NM_005766.2;FARP1,non_coding_transcript_exon_variant,,ENST00000457029,;FARP1,downstream_gene_variant,,ENST00000596580,;	uc001vnj.2	c.1545G>A	1810/4855	1	1			c.1545G>A						13	SNP	c.(1543-1545)CCG>CCA	60	60			breast(2)	2	Broad	FERM, RhoGEF, and pleckstrin domain protein 1			99061722		0.652	ENSG00000152767	5574	g.chr13:99061722G>A	regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity							63.608506	KEEP	11	12	-1	24	11	11	12	-1	63.931148	24	11	0.418182	1	0	0	0	0	0	0	1	0	--	--		0	A			FARP1_uc001vnh.2_Silent_p.P515P	253	GBM-41-2575-TP	p.P515P	G	TGATCAGCCCGCTGCTGAATG	NM_005766	NP_005757	99061722	Q9Y4F1	FARP1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(86;0.233)		14	1881	+	A	A	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		Silent	515						
FARP1	10160		GRCh37	13	98865588	98865588	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000319562.6:c.92C>T	p.Pro31Leu	p.P31L	ENST00000319562	NM_005766.2	31	cCg/cTg	0																																																																																																																																																																																																																																												
FARS2	0	broad.mit.edu	GRCh37	6	5613545	5613545	+	synonymous_variant	Silent	SNP	A	A	T	rs147628137		TCGA-27-2521-01	TCGA-27-2521-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274680.4:c.1209A>T	p.Val403=	p.V403=	ENST00000274680	NM_006567.3	403	gtA/gtT	0			1			T	V	uc010jnv.1	protein_coding		CCDS4494.1			1209/1356										0	c.(1207-1209)GTA>GTT			PROSITE_profiles:PS51447,hmmpanther:PTHR11538,hmmpanther:PTHR11538:SF40,Gene3D:3.30.70.380,TIGRFAM_domain:TIGR00469,Pfam_domain:PF03147,SMART_domains:SM00896,Superfamily_domains:0042524	phenylalanyl-tRNA synthetase 2 precursor	L-Phenylalanine(DB00120)			ENSP00000274680		7-Jun									COSM3411217	7-Jun	.		ENST00000274680	Transcript	1		phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	ENSG00000145982	g.chr6:5613545A>T	21062			LOW								--	--	1																																		FARS2_uc003mwr.2_Silent_p.V403V	1				p.V403V	NM_006567	NP_006558			1	SYFM_HUMAN	FARS2	HGNC	O95363	SYFM_HUMAN			R4GMX6_HUMAN		6	1545	+	Ovarian(93;0.11)	all_hematologic(90;0.0104)	UPI000006CF04	403			FDX-ACB.		SNV	FARS2,synonymous_variant,p.=,ENST00000324331,;FARS2,synonymous_variant,p.=,ENST00000274680,NM_006567.3;HNRNPA1P37,upstream_gene_variant,,ENST00000404243,;	uc010jnv.1	c.1209A>T	1365/1663	2	2			c.1209A>T						6	SNP	c.(1207-1209)GTA>GTT	29	29				0	Broad	phenylalanyl-tRNA synthetase 2 precursor		L-Phenylalanine(DB00120)	5613545		0.393	ENSG00000145982	5576	g.chr6:5613545A>T	phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding							7.911646	KEEP	5	12	-1	68	90	5	12	-1	34.705828	68	90	0.093168	1	0	0	0	0	0	0	1	0	--	--		0	T			FARS2_uc003mwr.2_Silent_p.V403V	200	GBM-27-2521-TP	p.V403V	A	ACAAGTTTGTACATCCAAAGT	NM_006567	NP_006558	5613545	O95363	SYFM_HUMAN	0			6	1545	+	T	T	Ovarian(93;0.11)	all_hematologic(90;0.0104)	Silent	403			FDX-ACB.			
FARSA	0	broad.mit.edu	GRCh37	19	13041262	13041262	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314606.4:c.365G>A	p.Gly122Glu	p.G122E	ENST00000314606	NM_004461.2	122	gGg/gAg	0			1			T	G/E	uc002mvs.2	protein_coding	YES	CCDS12287.1			365/1527									ovary(1)	1	c.(364-366)GGG>GAG			hmmpanther:PTHR11538:SF15,hmmpanther:PTHR11538	phenylalanyl-tRNA synthetase, alpha subunit	L-Phenylalanine(DB00120)			ENSP00000320309		13-Mar									COSM2154695	13-Mar	.		ENST00000314606	Transcript			phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding	ENSG00000179115	g.chr19:13041262C>T	3592			MODERATE		2.3	medium	getma.org/?cm=msa&ty=f&p=SYFA_HUMAN&rb=1&re=200&var=G122E	getma.org/pdb.php?prot=SYFA_HUMAN&from=1&to=200&var=G122E	getma.org/?cm=var&var=hg19,19,13041262,C,T&fts=all	G122E	--	--	1																																		FARSA_uc002mvt.2_RNA|FARSA_uc010xmv.1_Missense_Mutation_p.G122E|FARSA_uc010dyy.1_Intron	1	1		benign(0.227)	p.G122E	NM_004461	NP_004452		tolerated(0.12)	1	SYFA_HUMAN	FARSA	HGNC	Q9Y285	SYFA_HUMAN			Q6IBR2_HUMAN		3	413	-			UPI0000136413	122					SNV	FARSA,missense_variant,p.Gly162Glu,ENST00000588025,;FARSA,missense_variant,p.Gly122Glu,ENST00000314606,NM_004461.2;FARSA,missense_variant,p.Gly122Glu,ENST00000423140,;FARSA,missense_variant,p.Gly122Glu,ENST00000587981,;FARSA,intron_variant,,ENST00000593021,;FARSA,upstream_gene_variant,,ENST00000587488,;CTC-425F1.2,upstream_gene_variant,,ENST00000592636,;FARSA,missense_variant,p.Gly122Glu,ENST00000586146,;FARSA,non_coding_transcript_exon_variant,,ENST00000588965,;FARSA,non_coding_transcript_exon_variant,,ENST00000592662,;FARSA,non_coding_transcript_exon_variant,,ENST00000586280,;	uc002mvs.2	c.365G>A	384/1814	2	2			c.365G>A						19	SNP	c.(364-366)GGG>GAG	21	21			ovary(1)	1	Broad	phenylalanyl-tRNA synthetase, alpha subunit		L-Phenylalanine(DB00120)	13041262		0.637	ENSG00000179115	5577	g.chr19:13041262C>T	phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding							102.419822	KEEP	22	28	-1	72	66	22	28	-1	110.758311	72	66	0.25641	1	0	0	0	0	1	0	0	0	--	--		0	T			FARSA_uc002mvt.2_RNA|FARSA_uc010xmv.1_Missense_Mutation_p.G122E|FARSA_uc010dyy.1_Intron	138	GBM-14-0813-TP	p.G122E	C	CACCCGGGGCCCGTCAGCCGC	NM_004461	NP_004452	13041262	Q9Y285	SYFA_HUMAN	0			3	413	-	T	T			Missense_Mutation	122						
FASTKD5	60493		GRCh37	20	3128199	3128199	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000380266.3:c.1518T>G	p.Thr506=	p.T506=	ENST00000380266	NM_021826.4	506	acT/acG	0																																																																																																																																																																																																																																												
FAT1	2195	broad.mit.edu	GRCh37	4	187557880	187557880	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0648-01	TCGA-06-0648-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000441802.2:c.3831C>T	p.Thr1277=	p.T1277=	ENST00000441802	NM_005245.3	1277	acC/acT	0		A:0	1	A:0		A	T	uc003izf.2	protein_coding	YES	CCDS47177.1			3831/13767									ovary(10)|central_nervous_system(1)|pancreas(1)	12	c.(3829-3831)ACC>ACT			PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF40,hmmpanther:PTHR24026,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	FAT tumor suppressor 1 precursor		A:0		ENSP00000406229	A:0	27-May	1.66E-05		8.64E-05			1.50E-05			rs553222395,COSM2151404,COSM2151403	27-May	.		ENST00000441802	Transcript		A:0.0000	actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	ENSG00000083857	g.chr4:187557880G>A	3595			LOW								--	--	1				HNSCC(5;0.00058)																															0,1,1	1			p.T1277T	NM_005245	NP_005236	A:0		0,1,1	FAT1_HUMAN	FAT1	HGNC	Q14517	FAT1_HUMAN			D6RCE4_HUMAN		5	4019	-			UPI000051946B	1277			Extracellular (Potential).|Cadherin 11.		SNV	FAT1,synonymous_variant,p.=,ENST00000441802,NM_005245.3;	uc003izf.2	c.3831C>T	4041/14786	2	2			c.3831C>T						4	SNP	c.(3829-3831)ACC>ACT	45	45			ovary(10)|central_nervous_system(1)|pancreas(1)	12	Broad	FAT tumor suppressor 1 precursor			187557880		0.493	ENSG00000083857	5587	g.chr4:187557880G>A	actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	Colon(197;1040 2055 4143 4984 49344)			Colon(197;1040 2055 4143 4984 49344)			581.949404	KEEP	105	124	-1	187	158	105	124	-1	587.099684	187	158	0.386957	1	0	0	0	0	0	0	1	0	--	--	HNSCC(5;0.00058)	0	A				61	GBM-06-0648-TP	p.T1277T	G	CATCCTTGTCGGTGGCTATGA	NM_005245	NP_005236	187557880	Q14517	FAT1_HUMAN	0			5	4019	-	A	A			Silent	1277			Extracellular (Potential).|Cadherin 11.			
FAT1	2195	broad.mit.edu	GRCh37	4	187541182	187541183	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-06-2564-01	TCGA-06-2564-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000441802.2:c.6557dup	p.Tyr2187LeufsTer21	p.Y2187Lfs*21	ENST00000441802	NM_005245.3	2186	ttc/ttTc	0			1			A	F/FX	uc003izf.2	protein_coding	YES	CCDS47177.1			6557-6558/13767									ovary(10)|central_nervous_system(1)|pancreas(1)	12	c.(6556-6558)TTCfs			PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF40,hmmpanther:PTHR24026,Gene3D:2.60.40.60,Superfamily_domains:SSF49313	FAT tumor suppressor 1 precursor				ENSP00000406229		27-Oct										27-Oct	.		ENST00000441802	Transcript			actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	ENSG00000083857	g.chr4:187541182_187541183insA	3595			HIGH								--	--	1				HNSCC(5;0.00058)																																1			p.F2186fs	NM_005245	NP_005236				FAT1_HUMAN	FAT1	HGNC	Q14517	FAT1_HUMAN			D6RCE4_HUMAN		10	6745_6746	-			UPI000051946B	2186			Extracellular (Potential).|Cadherin 20.		insertion	FAT1,frameshift_variant,p.Tyr2187LeufsTer21,ENST00000441802,NM_005245.3;	uc003izf.2	c.6557_6558insT	6767-6768/14786	5	5			c.6557_6558insT						4	INS	c.(6556-6558)TTCfs	7	7			ovary(10)|central_nervous_system(1)|pancreas(1)	12	Broad	FAT tumor suppressor 1 precursor			187541183		0.51	ENSG00000083857	5587	g.chr4:187541182_187541183insA	actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	Colon(197;1040 2055 4143 4984 49344)			Colon(197;1040 2055 4143 4984 49344)																0.37	1	0	0	1	1	0	0	0	0	--	--	HNSCC(5;0.00058)	0	A				87	GBM-06-2564-TP	p.F2186fs	-	CTGCACTGTAGAAAGGTTTTTC	NM_005245	NP_005236	187541182	Q14517	FAT1_HUMAN	0			10	6745_6746	-	A	A			Frame_Shift_Ins	2186			Extracellular (Potential).|Cadherin 20.			
FAT1	0	broad.mit.edu	GRCh37	4	187541102	187541102	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-12-3652-01	TCGA-12-3652-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000441802.2:c.6638A>T	p.Lys2213Ile	p.K2213I	ENST00000441802	NM_005245.3	2213	aAa/aTa	0			1			A	K/I	uc003izf.2	protein_coding	YES	CCDS47177.1			6638/13767									ovary(10)|central_nervous_system(1)|pancreas(1)	12	c.(6637-6639)AAA>ATA			PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF40,hmmpanther:PTHR24026,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	FAT tumor suppressor 1 precursor				ENSP00000406229		27-Oct									COSM3409210,COSM3409209	27-Oct	.		ENST00000441802	Transcript			actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	ENSG00000083857	g.chr4:187541102T>A	3595			MODERATE		0.78	neutral	getma.org/?cm=msa&ty=f&p=FAT1_HUMAN&rb=2187&re=2274&var=K2213I	getma.org/pdb.php?prot=FAT1_HUMAN&from=2187&to=2274&var=K2213I	getma.org/?cm=var&var=hg19,4,187541102,T,A&fts=all	K2213I	--	--	1				HNSCC(5;0.00058)																															1,1	1		probably_damaging(0.932)	p.K2213I	NM_005245	NP_005236			1,1	FAT1_HUMAN	FAT1	HGNC	Q14517	FAT1_HUMAN			D6RCE4_HUMAN		10	6826	-			UPI000051946B	2213			Extracellular (Potential).|Cadherin 20.		SNV	FAT1,missense_variant,p.Lys2213Ile,ENST00000441802,NM_005245.3;	uc003izf.2	c.6638A>T	6848/14786	2	2			c.6638A>T						4	SNP	c.(6637-6639)AAA>ATA	33	33			ovary(10)|central_nervous_system(1)|pancreas(1)	12	Broad	FAT tumor suppressor 1 precursor			187541102		0.498	ENSG00000083857	5587	g.chr4:187541102T>A	actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	Colon(197;1040 2055 4143 4984 49344)			Colon(197;1040 2055 4143 4984 49344)			325.680373	KEEP	81	49	-1	82	80	81	49	-1	326.665536	82	80	0.433594	1	0	0	0	0	1	0	0	0	--	--	HNSCC(5;0.00058)	0	A				127	GBM-12-3652-TP	p.K2213I	T	GTAGAACACTTTCAGGCCTTC	NM_005245	NP_005236	187541102	Q14517	FAT1_HUMAN	0			10	6826	-	A	A			Missense_Mutation	2213			Extracellular (Potential).|Cadherin 20.			
FAT1	0	broad.mit.edu	GRCh37	4	187522529	187522529	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01	TCGA-28-2509-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000441802.2:c.11534C>T	p.Thr3845Met	p.T3845M	ENST00000441802	NM_005245.3	3845	aCg/aTg	0	A:0		1			A	T/M	uc003izf.2	protein_coding	YES	CCDS47177.1			11534/13767									ovary(10)|central_nervous_system(1)|pancreas(1)	12	c.(11533-11535)ACG>ATG			PROSITE_profiles:PS50025,hmmpanther:PTHR24026:SF40,hmmpanther:PTHR24026,Gene3D:2.60.120.200,Superfamily_domains:SSF49899	FAT tumor suppressor 1 precursor			A:0.0001	ENSP00000406229		21/27	2.48E-05				0.000303				rs372957295,COSM1159270,COSM218804	21/27	.		ENST00000441802	Transcript			actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	ENSG00000083857	g.chr4:187522529G>A	3595			MODERATE		-0.895	neutral	getma.org/?cm=msa&ty=f&p=FAT1_HUMAN&rb=3829&re=4009&var=T3845M	getma.org/pdb.php?prot=FAT1_HUMAN&from=3829&to=4009&var=T3845M	getma.org/?cm=var&var=hg19,4,187522529,G,A&fts=all	T3845M	--	--	1				HNSCC(5;0.00058)																															0,1,1	1		benign(0)	p.T3845M	NM_005245	NP_005236			0,1,1	FAT1_HUMAN	FAT1	HGNC	Q14517	FAT1_HUMAN			D6RCE4_HUMAN		21	11722	-			UPI000051946B	3845			Extracellular (Potential).|Laminin G-like.		SNV	FAT1,missense_variant,p.Thr3845Met,ENST00000441802,NM_005245.3;FAT1,upstream_gene_variant,,ENST00000512772,;FAT1,upstream_gene_variant,,ENST00000507105,;FAT1,upstream_gene_variant,,ENST00000512347,;FAT1,upstream_gene_variant,,ENST00000507662,;FAT1,non_coding_transcript_exon_variant,,ENST00000503253,;FAT1,upstream_gene_variant,,ENST00000500085,;	uc003izf.2	c.11534C>T	11744/14786	1	1			c.11534C>T						4	SNP	c.(11533-11535)ACG>ATG	56	56			ovary(10)|central_nervous_system(1)|pancreas(1)	12	Broad	FAT tumor suppressor 1 precursor			187522529		0.413	ENSG00000083857	5587	g.chr4:187522529G>A	actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	Colon(197;1040 2055 4143 4984 49344)			Colon(197;1040 2055 4143 4984 49344)			-7.36196	KEEP	1	3	-1	36	44	1	3	-1	8.706898	36	44	0.052632	1	0	0	0	0	1	0	0	0	--	--	HNSCC(5;0.00058)	0	A				211	GBM-28-2509-TP	p.T3845M	G	TTCATTTTCCGTCAGACGGTA	NM_005245	NP_005236	187522529	Q14517	FAT1_HUMAN	0			21	11722	-	A	A			Missense_Mutation	3845			Extracellular (Potential).|Laminin G-like.			
FAT2	2196	broad.mit.edu	GRCh37	5	150923883	150923883	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0169-01	TCGA-06-0169-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261800.5:c.6805C>A	p.Pro2269Thr	p.P2269T	ENST00000261800	NM_001447.2	2269	Cct/Act	0			1			T	P/T	uc003lue.3	protein_coding	YES	CCDS4317.1			6805/13050									ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6	c.(6805-6807)CCT>ACT			Gene3D:2.60.40.60,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313	FAT tumor suppressor 2 precursor				ENSP00000261800		23-Sep									COSM2150278	23-Sep	.		ENST00000261800	Transcript			epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	ENSG00000086570	g.chr5:150923883G>T	3596			MODERATE		1.37	low	getma.org/?cm=msa&ty=f&p=FAT2_HUMAN&rb=2172&re=2272&var=P2269T	getma.org/pdb.php?prot=FAT2_HUMAN&from=2172&to=2272&var=P2269T	getma.org/?cm=var&var=hg19,5,150923883,G,T&fts=all	P2269T	--	--	1																																		GM2A_uc011dcs.1_Intron	1	1		possibly_damaging(0.703)	p.P2269T	NM_001447	NP_001438			1	FAT2_HUMAN	FAT2	HGNC	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)				9	6818	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	UPI0000055B22	2269			Cadherin 19.|Extracellular (Potential).		SNV	FAT2,missense_variant,p.Pro2269Thr,ENST00000261800,NM_001447.2;	uc003lue.3	c.6805C>A	6818/14534	2	2			c.6805C>A						5	SNP	c.(6805-6807)CCT>ACT	29	29			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6	Broad	FAT tumor suppressor 2 precursor			150923883		0.502	ENSG00000086570	5588	g.chr5:150923883G>T	epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding							98.05436	KEEP	19	23	0.452380952	64	58	19	23	0.452380952	106.950059	64	58	0.251572	1	0	0	0	0	1	0	0	0	--	--		0	T			GM2A_uc011dcs.1_Intron	34	GBM-06-0169-TP	p.P2269T	G	AAAGTGGGAGGGTTATCATTG	NM_001447	NP_001438	150923883	Q9NYQ8	FAT2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	6818	-	T	T		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	Missense_Mutation	2269			Cadherin 19.|Extracellular (Potential).			
FAT2	2196	broad.mit.edu	GRCh37	5	150901299	150901299	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0879-01	TCGA-06-0879-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261800.5:c.10855G>A	p.Val3619Met	p.V3619M	ENST00000261800	NM_001447.2	3619	Gtg/Atg	0			1			T	V/M	uc003lue.3	protein_coding	YES	CCDS4317.1			10855/13050									ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6	c.(10855-10857)GTG>ATG			Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,SMART_domains:SM00112,Superfamily_domains:SSF49313	FAT tumor suppressor 2 precursor				ENSP00000261800		18/23									COSM3410010	18/23	.		ENST00000261800	Transcript			epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	ENSG00000086570	g.chr5:150901299C>T	3596			MODERATE		2.82	medium	getma.org/?cm=msa&ty=f&p=FAT2_HUMAN&rb=3532&re=3642&var=V3619M	NA	getma.org/?cm=var&var=hg19,5,150901299,C,T&fts=all	V3619M	--	--	1																																		GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.V312M	1	1		possibly_damaging(0.838)	p.V3619M	NM_001447	NP_001438			1	FAT2_HUMAN	FAT2	HGNC	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)				18	10868	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	UPI0000055B22	3619			Cadherin 32.|Extracellular (Potential).		SNV	FAT2,missense_variant,p.Val3619Met,ENST00000261800,NM_001447.2;FAT2,missense_variant,p.Val478Met,ENST00000520200,;	uc003lue.3	c.10855G>A	10868/14534	2	2			c.10855G>A						5	SNP	c.(10855-10857)GTG>ATG	34	34			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6	Broad	FAT tumor suppressor 2 precursor			150901299		0.627	ENSG00000086570	5588	g.chr5:150901299C>T	epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding							5.671811	KEEP	5	6	-1	53	60	5	6	-1	22.936924	53	60	0.095238	1	0	0	0	0	1	0	0	0	--	--		0	T			GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.V312M	75	GBM-06-0879-TP	p.V3619M	C	ACATGCCACACGTACACATGG	NM_001447	NP_001438	150901299	Q9NYQ8	FAT2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		18	10868	-	T	T		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	Missense_Mutation	3619			Cadherin 32.|Extracellular (Potential).			
FAT2	2196	broad.mit.edu	GRCh37	5	150947262	150947262	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-5413-01	TCGA-06-5413-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261800.5:c.1231C>T	p.Arg411Ter	p.R411*	ENST00000261800	NM_001447.2	411	Cga/Tga	0			1			A	R/*	uc003lue.3	protein_coding	YES	CCDS4317.1			1231/13050									ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6	c.(1231-1233)CGA>TGA			Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,SMART_domains:SM00112,Superfamily_domains:SSF49313	FAT tumor suppressor 2 precursor				ENSP00000261800		23-Jan	8.24E-06					1.50E-05			rs765547953,COSM1672059	23-Jan	.		ENST00000261800	Transcript			epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	ENSG00000086570	g.chr5:150947262G>A	3596			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,5,150947262,G,A&fts=all	R411*	--	--	1																																		GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Nonsense_Mutation_p.R411*	0,1	1			p.R411*	NM_001447	NP_001438			0,1	FAT2_HUMAN	FAT2	HGNC	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)				1	1244	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	UPI0000055B22	411			Extracellular (Potential).|Cadherin 3.		SNV	FAT2,stop_gained,p.Arg411Ter,ENST00000261800,NM_001447.2;	uc003lue.3	c.1231C>T	1244/14534	5	2			c.1231C>T						5	SNP	c.(1231-1233)CGA>TGA	30	30			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6	Broad	FAT tumor suppressor 2 precursor			150947262		0.532	ENSG00000086570	5588	g.chr5:150947262G>A	epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding							106.530741	KEEP	16	21	-1	45	43	16	21	-1	110.887607	45	43	0.300813	1	0	0	0	0	0	1	0	0	--	--		0	A			GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Nonsense_Mutation_p.R411*	96	GBM-06-5413-TP	p.R411*	G	AACCCAGTTCGAGCATTAAGT	NM_001447	NP_001438	150947262	Q9NYQ8	FAT2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	1244	-	A	A		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	Nonsense_Mutation	411			Extracellular (Potential).|Cadherin 3.			
FAT2	0	broad.mit.edu	GRCh37	5	150922879	150922879	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0787-01	TCGA-14-0787-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261800.5:c.7809G>A	p.Pro2603=	p.P2603=	ENST00000261800	NM_001447.2	2603	ccG/ccA	0	T:0.0005		1			T	P	uc003lue.3	protein_coding	YES	CCDS4317.1			7809/13050									ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6	c.(7807-7809)CCG>CCA			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,Superfamily_domains:SSF49313	FAT tumor suppressor 2 precursor			T:0.0001	ENSP00000261800		23-Sep	9.88E-05	0.000288				0.000135			rs368590845,COSM3244925	23-Sep	.		ENST00000261800	Transcript			epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	ENSG00000086570	g.chr5:150922879C>T	3596			LOW								--	--	1																																		GM2A_uc011dcs.1_Intron	0,1	1			p.P2603P	NM_001447	NP_001438			0,1	FAT2_HUMAN	FAT2	HGNC	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)				9	7822	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	UPI0000055B22	2603			Cadherin 23.|Extracellular (Potential).		SNV	FAT2,synonymous_variant,p.=,ENST00000261800,NM_001447.2;	uc003lue.3	c.7809G>A	7822/14534	1	1			c.7809G>A						5	SNP	c.(7807-7809)CCG>CCA	6	6			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6	Broad	FAT tumor suppressor 2 precursor			150922879		0.443	ENSG00000086570	5588	g.chr5:150922879C>T	epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding							533.013402	KEEP	107	80	-1	135	126	107	80	-1	535.411997	135	126	0.416667	1	0	0	0	0	0	0	1	0	--	--		0	T			GM2A_uc011dcs.1_Intron	135	GBM-14-0787-TP	p.P2603P	C	CCTGGATAACCGGAGAGTCTT	NM_001447	NP_001438	150922879	Q9NYQ8	FAT2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	7822	-	T	T		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	Silent	2603			Cadherin 23.|Extracellular (Potential).			
FAT2	0	broad.mit.edu	GRCh37	5	150901466	150901466	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261800.5:c.10688C>T	p.Thr3563Met	p.T3563M	ENST00000261800	NM_001447.2	3563	aCg/aTg	0	A:0	A:0	1	A:0		A	T/M	uc003lue.3	protein_coding	YES	CCDS4317.1			10688/13050									ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6	c.(10687-10689)ACG>ATG			Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,SMART_domains:SM00112,Superfamily_domains:SSF49313	FAT tumor suppressor 2 precursor		A:0	A:0.0001	ENSP00000261800	A:0	18/23	0.000107					4.50E-05	0.0011	0.000547	rs375888956,COSM2155260	18/23	common_variant		ENST00000261800	Transcript		A:0.0004	epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	ENSG00000086570	g.chr5:150901466G>A	3596			MODERATE		1.755	low	getma.org/?cm=msa&ty=f&p=FAT2_HUMAN&rb=3532&re=3642&var=T3563M	NA	getma.org/?cm=var&var=hg19,5,150901466,G,A&fts=all	T3563M	--	--	1																																		GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.T256M	0,1	1		benign(0.063)	p.T3563M	NM_001447	NP_001438	A:0.002		0,1	FAT2_HUMAN	FAT2	HGNC	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)				18	10701	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	UPI0000055B22	3563			Cadherin 32.|Extracellular (Potential).		SNV	FAT2,missense_variant,p.Thr3563Met,ENST00000261800,NM_001447.2;FAT2,missense_variant,p.Thr422Met,ENST00000520200,;	uc003lue.3	c.10688C>T	10701/14534	2	2			c.10688C>T						5	SNP	c.(10687-10689)ACG>ATG	44	44			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6	Broad	FAT tumor suppressor 2 precursor			150901466		0.602	ENSG00000086570	5588	g.chr5:150901466G>A	epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding							74.832799	KEEP	11	16	-1	25	23	11	16	-1	75.751804	25	23	0.376812	1	0	0	0	0	1	0	0	0	--	--		0	A			GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.T256M	142	GBM-14-1034-TP	p.T3563M	G	ATAGGTCAGCGTGTCCTGGGG	NM_001447	NP_001438	150901466	Q9NYQ8	FAT2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		18	10701	-	A	A		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	Missense_Mutation	3563			Cadherin 32.|Extracellular (Potential).			
FAT2	0	broad.mit.edu	GRCh37	5	150921921	150921921	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01	TCGA-28-2513-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261800.5:c.8767G>A	p.Glu2923Lys	p.E2923K	ENST00000261800	NM_001447.2	2923	Gaa/Aaa	0			1			T	E/K	uc003lue.3	protein_coding	YES	CCDS4317.1			8767/13050									ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6	c.(8767-8769)GAA>AAA			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,Superfamily_domains:SSF49313	FAT tumor suppressor 2 precursor				ENSP00000261800		23-Sep	8.24E-06			0.000116					rs777011886,COSM3410012	23-Sep	.		ENST00000261800	Transcript			epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	ENSG00000086570	g.chr5:150921921C>T	3596			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=FAT2_HUMAN&rb=2911&re=3002&var=E2923K	NA	getma.org/?cm=var&var=hg19,5,150921921,C,T&fts=all	E2923K	--	--	1																																		GM2A_uc011dcs.1_Intron	0,1	1		probably_damaging(0.914)	p.E2923K	NM_001447	NP_001438			0,1	FAT2_HUMAN	FAT2	HGNC	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)				9	8780	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	UPI0000055B22	2923			Extracellular (Potential).|Cadherin 26.		SNV	FAT2,missense_variant,p.Glu2923Lys,ENST00000261800,NM_001447.2;	uc003lue.3	c.8767G>A	8780/14534	1	1			c.8767G>A						5	SNP	c.(8767-8769)GAA>AAA	6	6			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6	Broad	FAT tumor suppressor 2 precursor			150921921		0.512	ENSG00000086570	5588	g.chr5:150921921C>T	epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding							171.537978	KEEP	43	37	-1	137	162	43	37	-1	198.230901	137	162	0.210983	1	0	0	0	0	1	0	0	0	--	--		0	T			GM2A_uc011dcs.1_Intron	213	GBM-28-2513-TP	p.E2923K	C	GCCACCAGTTCGCCAGGCTCA	NM_001447	NP_001438	150921921	Q9NYQ8	FAT2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	8780	-	T	T		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	Missense_Mutation	2923			Extracellular (Potential).|Cadherin 26.			
FAT2	2196		GRCh37	5	150942915	150942915	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000261800.5:c.3545T>C	p.Met1182Thr	p.M1182T	ENST00000261800	NM_001447.2	1182	aTg/aCg	0																																																																																																																																																																																																																																												
FAT2	2196		GRCh37	5	150920247	150920247	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000261800.5:c.8920C>T	p.Arg2974Cys	p.R2974C	ENST00000261800	NM_001447.2	2974	Cgc/Tgc	0																																																																																																																																																																																																																																												
FAT3	120114	broad.mit.edu	GRCh37	11	92570936	92570936	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-02-0003-01	TCGA-02-0003-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298047.6:c.10332G>A	p.Pro3444=	p.P3444=	ENST00000298047		3444	ccG/ccA	0	A:0		1			A	P	uc001pdj.3	protein_coding	YES				10332/13770									ovary(4)|pancreas(1)	5	c.(10330-10332)CCG>CCA			Gene3D:2.60.40.60,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313	FAT tumor suppressor homolog 3			A:0.0001	ENSP00000298047		16/27	4.14E-05	0.000102		0.000116		4.50E-05			rs374103134,COSM2148917,COSM2148916,COSM2148915	16/27	.		ENST00000298047	Transcript			homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	ENSG00000165323	g.chr11:92570936G>A	23112			LOW								--	--	1				TCGA Ovarian(4;0.039)																														FAT3_uc001pdi.3_5'Flank	0,1,1,1	1			p.P3444P	NM_001008781	NP_001008781			0,1,1,1	FAT3_HUMAN	FAT3	HGNC	Q8TDW7	FAT3_HUMAN			E9PQ73_HUMAN		16	10349	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	UPI000050B6C6	3444			Extracellular (Potential).|Cadherin 31.		SNV	FAT3,synonymous_variant,p.=,ENST00000298047,;FAT3,synonymous_variant,p.=,ENST00000409404,NM_001008781.2;FAT3,synonymous_variant,p.=,ENST00000525166,;	uc001pdj.3	c.10332G>A	10349/19126	2	2			c.10332G>A						11	SNP	c.(10330-10332)CCG>CCA	43	43			ovary(4)|pancreas(1)	5	Broad	FAT tumor suppressor homolog 3			92570936		0.468	ENSG00000165323	5589	g.chr11:92570936G>A	homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding							119.152528	KEEP	16	29	-1	31	32	16	29	-1	120.089146	31	32	0.398058	1	0	0	0	0	0	0	1	0	--	--	TCGA Ovarian(4;0.039)	0	A			FAT3_uc001pdi.3_5'Flank	1	GBM-02-0003-TP	p.P3444P	G	ACAACAGCCCGGTGTTTACAC	NM_001008781	NP_001008781	92570936	Q8TDW7	FAT3_HUMAN	0			16	10349	+	A	A		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	Silent	3444			Extracellular (Potential).|Cadherin 31.			
FAT3	120114	broad.mit.edu	GRCh37	11	92568240	92568240	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01	TCGA-02-0047-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298047.6:c.10076C>T	p.Ser3359Phe	p.S3359F	ENST00000298047		3359	tCt/tTt	0			1			T	S/F	uc001pdj.3	protein_coding	YES				10076/13770									ovary(4)|pancreas(1)	5	c.(10075-10077)TCT>TTT			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,Superfamily_domains:SSF49313	FAT tumor suppressor homolog 3				ENSP00000298047		14/27									COSM3398201,COSM3398200	14/27	.		ENST00000298047	Transcript			homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	ENSG00000165323	g.chr11:92568240C>T	23112			MODERATE		1.53	low	getma.org/?cm=msa&ty=f&p=FAT3_HUMAN&rb=3346&re=3437&var=S3359F	getma.org/pdb.php?prot=FAT3_HUMAN&from=3346&to=3437&var=S3359F	getma.org/?cm=var&var=hg19,11,92568240,C,T&fts=all	S3359F	--	--	1				TCGA Ovarian(4;0.039)																															1,1	1		benign(0.018)	p.S3359F	NM_001008781	NP_001008781			1,1	FAT3_HUMAN	FAT3	HGNC	Q8TDW7	FAT3_HUMAN			E9PQ73_HUMAN		14	10093	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	UPI000050B6C6	3359			Extracellular (Potential).|Cadherin 31.		SNV	FAT3,missense_variant,p.Ser3359Phe,ENST00000298047,;FAT3,missense_variant,p.Ser3359Phe,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.Ser3209Phe,ENST00000525166,;	uc001pdj.3	c.10076C>T	10093/19126	2	2			c.10076C>T						11	SNP	c.(10075-10077)TCT>TTT	24	24			ovary(4)|pancreas(1)	5	Broad	FAT tumor suppressor homolog 3			92568240		0.468	ENSG00000165323	5589	g.chr11:92568240C>T	homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding							0.658174	KEEP	1	6	-1	31	21	1	6	-1	9.65711	31	21	0.08	1	0	0	0	0	1	0	0	0	--	--	TCGA Ovarian(4;0.039)	0	T				3	GBM-02-0047-TP	p.S3359F	C	GTGGGAGACTCTGTCATTTTG	NM_001008781	NP_001008781	92568240	Q8TDW7	FAT3_HUMAN	0			14	10093	+	T	T		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	Missense_Mutation	3359			Extracellular (Potential).|Cadherin 31.			
FAT3	120114	broad.mit.edu	GRCh37	11	92532317	92532317	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0213-01	TCGA-06-0213-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298047.6:c.6138A>G	p.Glu2046=	p.E2046=	ENST00000298047		2046	gaA/gaG	0			1			G	E	uc001pdj.3	protein_coding	YES				6138/13770									ovary(4)|pancreas(1)	5	c.(6136-6138)GAA>GAG			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,SMART_domains:SM00112,Superfamily_domains:SSF49313	FAT tumor suppressor homolog 3				ENSP00000298047		27-Sep									COSM3398197,COSM3398196	27-Sep	.		ENST00000298047	Transcript			homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	ENSG00000165323	g.chr11:92532317A>G	23112			LOW								--	--	1				TCGA Ovarian(4;0.039)																															1,1	1			p.E2046E	NM_001008781	NP_001008781			1,1	FAT3_HUMAN	FAT3	HGNC	Q8TDW7	FAT3_HUMAN			E9PQ73_HUMAN		9	6155	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	UPI000050B6C6	2046			Extracellular (Potential).|Cadherin 18.		SNV	FAT3,synonymous_variant,p.=,ENST00000298047,;FAT3,synonymous_variant,p.=,ENST00000409404,NM_001008781.2;FAT3,synonymous_variant,p.=,ENST00000525166,;	uc001pdj.3	c.6138A>G	6155/19126	4	4			c.6138A>G						11	SNP	c.(6136-6138)GAA>GAG	29	29			ovary(4)|pancreas(1)	5	Broad	FAT tumor suppressor homolog 3			92532317		0.463	ENSG00000165323	5589	g.chr11:92532317A>G	homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding							-7.861049	KEEP	4	0	-1	46	38	4	0	-1	10.984522	46	38	0.046512	1	0	0	0	0	0	0	1	0	--	--	TCGA Ovarian(4;0.039)	0	G				49	GBM-06-0213-TP	p.E2046E	A	ACCGTGAAGAACAAGAGTTAT	NM_001008781	NP_001008781	92532317	Q8TDW7	FAT3_HUMAN	0			9	6155	+	G	G		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	Silent	2046			Extracellular (Potential).|Cadherin 18.			
FAT3	120114	broad.mit.edu	GRCh37	11	92533806	92533806	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-2558-01	TCGA-06-2558-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298047.6:c.7627C>T	p.Arg2543Ter	p.R2543*	ENST00000298047		2543	Cga/Tga	0			1			T	R/*	uc001pdj.3	protein_coding	YES				7627/13770									ovary(4)|pancreas(1)	5	c.(7627-7629)CGA>TGA			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,SMART_domains:SM00112,Superfamily_domains:SSF49313	FAT tumor suppressor homolog 3				ENSP00000298047		27-Sep									COSM933154,COSM933153	27-Sep	.		ENST00000298047	Transcript			homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	ENSG00000165323	g.chr11:92533806C>T	23112			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,11,92533806,C,T&fts=all	R2543*	--	--	1				TCGA Ovarian(4;0.039)																															1,1	1			p.R2543*	NM_001008781	NP_001008781			1,1	FAT3_HUMAN	FAT3	HGNC	Q8TDW7	FAT3_HUMAN			E9PQ73_HUMAN		9	7644	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	UPI000050B6C6	2543			Cadherin 23.|Extracellular (Potential).		SNV	FAT3,stop_gained,p.Arg2543Ter,ENST00000298047,;FAT3,stop_gained,p.Arg2543Ter,ENST00000409404,NM_001008781.2;FAT3,stop_gained,p.Arg2393Ter,ENST00000525166,;	uc001pdj.3	c.7627C>T	7644/19126	5	1			c.7627C>T						11	SNP	c.(7627-7629)CGA>TGA	6	6			ovary(4)|pancreas(1)	5	Broad	FAT tumor suppressor homolog 3			92533806		0.488	ENSG00000165323	5589	g.chr11:92533806C>T	homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding							34.089292	KEEP	7	5	-1	14	12	7	5	-1	34.737913	14	12	0.352941	1	0	0	0	0	0	1	0	0	--	--	TCGA Ovarian(4;0.039)	0	T				82	GBM-06-2558-TP	p.R2543*	C	TGCCAAGGATCGATTCCTCAT	NM_001008781	NP_001008781	92533806	Q8TDW7	FAT3_HUMAN	0			9	7644	+	T	T		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	Nonsense_Mutation	2543			Cadherin 23.|Extracellular (Potential).			
FAT3	0	broad.mit.edu	GRCh37	11	92532113	92532113	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-3476-01	TCGA-14-3476-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298047.6:c.5934C>T	p.Ser1978=	p.S1978=	ENST00000298047		1978	agC/agT	0	T:0		1			T	S	uc001pdj.3	protein_coding	YES				5934/13770									ovary(4)|pancreas(1)	5	c.(5932-5934)AGC>AGT			PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,SMART_domains:SM00112,Superfamily_domains:SSF49313	FAT tumor suppressor homolog 3			T:0.0001	ENSP00000298047		27-Sep	4.14E-05					7.49E-05			rs371269485,COSM3398195,COSM3398194	27-Sep	.		ENST00000298047	Transcript			homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	ENSG00000165323	g.chr11:92532113C>T	23112			LOW								--	--	1				TCGA Ovarian(4;0.039)																															0,1,1	1			p.S1978S	NM_001008781	NP_001008781			0,1,1	FAT3_HUMAN	FAT3	HGNC	Q8TDW7	FAT3_HUMAN			E9PQ73_HUMAN		9	5951	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	UPI000050B6C6	1978			Cadherin 17.|Extracellular (Potential).		SNV	FAT3,synonymous_variant,p.=,ENST00000298047,;FAT3,synonymous_variant,p.=,ENST00000409404,NM_001008781.2;FAT3,synonymous_variant,p.=,ENST00000525166,;	uc001pdj.3	c.5934C>T	5951/19126	1	1			c.5934C>T						11	SNP	c.(5932-5934)AGC>AGT	9	9			ovary(4)|pancreas(1)	5	Broad	FAT tumor suppressor homolog 3			92532113		0.433	ENSG00000165323	5589	g.chr11:92532113C>T	homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding							-0.547118	KEEP	16	13	-1	170	181	16	13	-1	56.045839	170	181	0.081761	1	0	0	0	0	0	0	1	0	--	--	TCGA Ovarian(4;0.039)	0	T				151	GBM-14-3476-TP	p.S1978S	C	CCATGGACAGCGGCCTCCACT	NM_001008781	NP_001008781	92532113	Q8TDW7	FAT3_HUMAN	0			9	5951	+	T	T		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	Silent	1978			Cadherin 17.|Extracellular (Potential).			
FAT3	0	broad.mit.edu	GRCh37	11	92577445	92577445	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-19-1390-01	TCGA-19-1390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298047.6:c.10912G>C	p.Glu3638Gln	p.E3638Q	ENST00000298047		3638	Gag/Cag	0			1			C	E/Q	uc001pdj.3	protein_coding	YES				10912/13770									ovary(4)|pancreas(1)	5	c.(10912-10914)GAG>CAG			Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33	FAT tumor suppressor homolog 3				ENSP00000298047		18/27									COSM3398204,COSM3398203,COSM3398202	18/27	.		ENST00000298047	Transcript			homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	ENSG00000165323	g.chr11:92577445G>C	23112			MODERATE		2.25	medium	getma.org/?cm=msa&ty=f&p=FAT3_HUMAN&rb=3552&re=3653&var=E3638Q	NA	getma.org/?cm=var&var=hg19,11,92577445,G,C&fts=all	E3638Q	--	--	1				TCGA Ovarian(4;0.039)																														FAT3_uc001pdi.3_Missense_Mutation_p.E78Q	1,1,1	1		possibly_damaging(0.855)	p.E3638Q	NM_001008781	NP_001008781			1,1,1	FAT3_HUMAN	FAT3	HGNC	Q8TDW7	FAT3_HUMAN			E9PQ73_HUMAN		18	10929	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	UPI000050B6C6	3638			Cadherin 33.|Extracellular (Potential).		SNV	FAT3,missense_variant,p.Glu3638Gln,ENST00000298047,;FAT3,missense_variant,p.Glu3638Gln,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.Glu3488Gln,ENST00000525166,;FAT3,upstream_gene_variant,,ENST00000533797,;	uc001pdj.3	c.10912G>C	10929/19126	3	3			c.10912G>C						11	SNP	c.(10912-10914)GAG>CAG	53	53			ovary(4)|pancreas(1)	5	Broad	FAT tumor suppressor homolog 3			92577445		0.557	ENSG00000165323	5589	g.chr11:92577445G>C	homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding							-35.763765	KEEP	1	3	-1	104	86	1	3	-1	8.921169	104	86	0.022727	1	0	0	0	0	1	0	0	0	--	--	TCGA Ovarian(4;0.039)	0	C			FAT3_uc001pdi.3_Missense_Mutation_p.E78Q	159	GBM-19-1390-TP	p.E3638Q	G	CGTGCATGTGGAGCAGTTGGT	NM_001008781	NP_001008781	92577445	Q8TDW7	FAT3_HUMAN	0			18	10929	+	C	C		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	Missense_Mutation	3638			Cadherin 33.|Extracellular (Potential).			
FAT3	0	broad.mit.edu	GRCh37	11	92531786	92531786	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-2499-01	TCGA-28-2499-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298047.6:c.5607C>T	p.Val1869=	p.V1869=	ENST00000298047		1869	gtC/gtT	0			1			T	V	uc001pdj.3	protein_coding	YES				5607/13770									ovary(4)|pancreas(1)	5	c.(5605-5607)GTC>GTT			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,SMART_domains:SM00112,Superfamily_domains:SSF49313	FAT tumor suppressor homolog 3				ENSP00000298047		27-Sep									COSM3398193,COSM3398192	27-Sep	.		ENST00000298047	Transcript			homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	ENSG00000165323	g.chr11:92531786C>T	23112			LOW								--	--	1				TCGA Ovarian(4;0.039)																															1,1	1			p.V1869V	NM_001008781	NP_001008781			1,1	FAT3_HUMAN	FAT3	HGNC	Q8TDW7	FAT3_HUMAN			E9PQ73_HUMAN		9	5624	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	UPI000050B6C6	1869			Cadherin 16.|Extracellular (Potential).		SNV	FAT3,synonymous_variant,p.=,ENST00000298047,;FAT3,synonymous_variant,p.=,ENST00000409404,NM_001008781.2;FAT3,synonymous_variant,p.=,ENST00000525166,;	uc001pdj.3	c.5607C>T	5624/19126	1	1			c.5607C>T						11	SNP	c.(5605-5607)GTC>GTT	11	11			ovary(4)|pancreas(1)	5	Broad	FAT tumor suppressor homolog 3			92531786		0.463	ENSG00000165323	5589	g.chr11:92531786C>T	homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding							40.179994	KEEP	7	9	-1	18	20	7	9	-1	41.755791	18	20	0.313725	1	0	0	0	0	0	0	1	0	--	--	TCGA Ovarian(4;0.039)	0	T				208	GBM-28-2499-TP	p.V1869V	C	CCGTTGAAGTCAACATTGAGG	NM_001008781	NP_001008781	92531786	Q8TDW7	FAT3_HUMAN	0			9	5624	+	T	T		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	Silent	1869			Cadherin 16.|Extracellular (Potential).			
FAT3	0	broad.mit.edu	GRCh37	11	92535042	92535042	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298047.6:c.8863G>A	p.Asp2955Asn	p.D2955N	ENST00000298047		2955	Gac/Aac	0			1			A	D/N	uc001pdj.3	protein_coding	YES				8863/13770									ovary(4)|pancreas(1)	5	c.(8863-8865)GAC>AAC			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,SMART_domains:SM00112,Superfamily_domains:SSF49313	FAT tumor suppressor homolog 3				ENSP00000298047		27-Sep	8.27E-06			0.000117					rs771847867,COSM3398199,COSM3398198	27-Sep	.		ENST00000298047	Transcript			homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	ENSG00000165323	g.chr11:92535042G>A	23112			MODERATE		1.405	low	getma.org/?cm=msa&ty=f&p=FAT3_HUMAN&rb=2929&re=3020&var=D2955N	NA	getma.org/?cm=var&var=hg19,11,92535042,G,A&fts=all	D2955N	--	--	1				TCGA Ovarian(4;0.039)																															0,1,1	1		benign(0.022)	p.D2955N	NM_001008781	NP_001008781			0,1,1	FAT3_HUMAN	FAT3	HGNC	Q8TDW7	FAT3_HUMAN			E9PQ73_HUMAN		9	8880	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	UPI000050B6C6	2955			Cadherin 27.|Extracellular (Potential).		SNV	FAT3,missense_variant,p.Asp2955Asn,ENST00000298047,;FAT3,missense_variant,p.Asp2955Asn,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.Asp2805Asn,ENST00000525166,;	uc001pdj.3	c.8863G>A	8880/19126	2	2			c.8863G>A						11	SNP	c.(8863-8865)GAC>AAC	21	21			ovary(4)|pancreas(1)	5	Broad	FAT tumor suppressor homolog 3			92535042		0.522	ENSG00000165323	5589	g.chr11:92535042G>A	homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding							60.688558	KEEP	16	12	-1	40	38	16	12	-1	64.722897	40	38	0.270588	1	0	0	0	0	1	0	0	0	--	--	TCGA Ovarian(4;0.039)	0	A				235	GBM-32-2491-TP	p.D2955N	G	AGACACATCCGACGTTAATCG	NM_001008781	NP_001008781	92535042	Q8TDW7	FAT3_HUMAN	0			9	8880	+	A	A		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	Missense_Mutation	2955			Cadherin 27.|Extracellular (Potential).			
FAT3	120114		GRCh37	11	92539549	92539549	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000298047.6:c.9115C>T	p.Pro3039Ser	p.P3039S	ENST00000298047		3039	Cct/Tct	0																																																																																																																																																																																																																																												
FAT4	0	broad.mit.edu	GRCh37	4	126241369	126241369	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01	TCGA-19-5951-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394329.3:c.3803C>T	p.Thr1268Ile	p.T1268I	ENST00000394329	NM_024582.4	1268	aCa/aTa	0			1			T	T/I	uc003ifj.3	protein_coding	YES	CCDS3732.3			3803/14946									ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18	c.(3802-3804)ACA>ATA			PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF41,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	FAT tumor suppressor homolog 4 precursor				ENSP00000377862		17-Jan									COSM2156658,COSM2156657	17-Jan	.		ENST00000394329	Transcript	1		homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000196159	g.chr4:126241369C>T	23109			MODERATE		1.055	low	getma.org/?cm=msa&ty=f&p=FAT4_HUMAN&rb=1215&re=1306&var=T1268I	getma.org/pdb.php?prot=FAT4_HUMAN&from=1215&to=1306&var=T1268I	getma.org/?cm=var&var=hg19,4,126241369,C,T&fts=all	T1268I	--	--	1																																			1,1	1		benign(0.033)	p.T1268I	NM_024582	NP_078858			1,1	FAT4_HUMAN	FAT4	HGNC	Q6V0I7	FAT4_HUMAN			B3KRB4_HUMAN		1	3803	+			UPI000155D6E3	1268			Cadherin 12.|Extracellular (Potential).		SNV	FAT4,missense_variant,p.Thr1268Ile,ENST00000394329,NM_024582.4;	uc003ifj.3	c.3803C>T	3816/16123	2	2			c.3803C>T						4	SNP	c.(3802-3804)ACA>ATA	21	21			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18	Broad	FAT tumor suppressor homolog 4 precursor			126241369		0.373	ENSG00000196159	5590	g.chr4:126241369C>T	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							52.093197	KEEP	13	12	-1	56	32	13	12	-1	59.519956	56	32	0.221154	1	0	0	0	0	1	0	0	0	--	--		0	T				171	GBM-19-5951-TP	p.T1268I	C	GGTCAGGTAACACTAATTGGC	NM_024582	NP_078858	126241369	Q6V0I7	FAT4_HUMAN	0			1	3803	+	T	T			Missense_Mutation	1268			Cadherin 12.|Extracellular (Potential).			
FAT4	79633		GRCh37	4	126372195	126372195	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0165-01	TCGA-06-0165-01																				ENST00000394329.3:c.10024C>T	p.Arg3342Ter	p.R3342*	ENST00000394329	NM_024582.4	3342	Cga/Tga	0																																																																																																																																																																																																																																												
FATE1	0	broad.mit.edu	GRCh37	X	150885868	150885868	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-76-4928-01	TCGA-76-4928-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370350.3:c.231A>T	p.Lys77Asn	p.K77N	ENST00000370350	NM_033085.2	77	aaA/aaT	0			1			T	K/N	uc004fex.2	protein_coding	YES	CCDS14700.1			231/552									ovary(1)	1	c.(229-231)AAA>AAT			Pfam_domain:PF05644,hmmpanther:PTHR21128	fetal and adult testis expressed transcript				ENSP00000359375		5-Feb									COSM3406075	5-Feb	.		ENST00000370350	Transcript				endoplasmic reticulum|integral to membrane		ENSG00000147378	g.chrX:150885868A>T	24683			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=FATE1_HUMAN&rb=7&re=183&var=K77N	NA	getma.org/?cm=var&var=hg19,X,150885868,A,T&fts=all	K77N	--	--	1																																			1	1		probably_damaging(0.99)	p.K77N	NM_033085	NP_149076		tolerated(0.08)	1	FATE1_HUMAN	FATE1	HGNC	Q969F0	FATE1_HUMAN					2	315	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI0000073DB2	77					SNV	FATE1,missense_variant,p.Lys77Asn,ENST00000370350,NM_033085.2;FATE1,missense_variant,p.Lys69Asn,ENST00000417321,;	uc004fex.2	c.231A>T	316/1072	1	1			c.231A>T						23	SNP	c.(229-231)AAA>AAT	4	4			ovary(1)	1	Broad	fetal and adult testis expressed transcript			150885868		0.562	ENSG00000147378	5591	g.chrX:150885868A>T		endoplasmic reticulum|integral to membrane								118.939272	KEEP	27	34	-1	111	107	27	34	-1	135.918754	111	107	0.228	1	0	0	0	0	1	0	0	0	--	--		0	T				268	GBM-76-4928-TP	p.K77N	A	GACCCAAGAAAATGGTACTGT	NM_033085	NP_149076	150885868	Q969F0	FATE1_HUMAN	0			2	315	+	T	T	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	77						
FATE1	0	broad.mit.edu	GRCh37	X	150891145	150891145	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-87-5896-01	TCGA-87-5896-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370350.3:c.466G>A	p.Ala156Thr	p.A156T	ENST00000370350	NM_033085.2	156	Gcc/Acc	0			1			A	A/T	uc004fex.2	protein_coding	YES	CCDS14700.1			466/552									ovary(1)	1	c.(466-468)GCC>ACC			Pfam_domain:PF05644,hmmpanther:PTHR21128	fetal and adult testis expressed transcript				ENSP00000359375		5-May	4.94E-05		0.000107			4.24E-05			rs777933414,COSM3406076	5-May	.		ENST00000370350	Transcript				endoplasmic reticulum|integral to membrane		ENSG00000147378	g.chrX:150891145G>A	24683			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=FATE1_HUMAN&rb=7&re=183&var=A156T	NA	getma.org/?cm=var&var=hg19,X,150891145,G,A&fts=all	A156T	--	--	1																																			0,1	1		benign(0.116)	p.A156T	NM_033085	NP_149076		tolerated(0.24)	0,1	FATE1_HUMAN	FATE1	HGNC	Q969F0	FATE1_HUMAN					5	550	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI0000073DB2	156					SNV	FATE1,missense_variant,p.Ala156Thr,ENST00000370350,NM_033085.2;FATE1,3_prime_UTR_variant,,ENST00000417321,;	uc004fex.2	c.466G>A	551/1072	1	1			c.466G>A						23	SNP	c.(466-468)GCC>ACC	64	64			ovary(1)	1	Broad	fetal and adult testis expressed transcript			150891145		0.652	ENSG00000147378	5591	g.chrX:150891145G>A		endoplasmic reticulum|integral to membrane								121.863265	KEEP	20	24	-1	16	25	20	24	-1	121.889058	16	25	0.518519	1	0	0	0	0	1	0	0	0	--	--		0	A				291	GBM-87-5896-TP	p.A156T	G	GGAACAGGGCGCCACCTGGCG	NM_033085	NP_149076	150891145	Q969F0	FATE1_HUMAN	0			5	550	+	A	A	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	156						
FAU	2197	broad.mit.edu	GRCh37	11	64889007	64889007	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0145-01	TCGA-06-0145-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000529639.1:c.185T>C	p.Leu62Pro	p.L62P	ENST00000529639	NM_001997.4	62	cTg/cCg	0			1			G	L/P	uc001ocx.2	protein_coding		CCDS8095.1			185/402										0	c.(184-186)CTG>CCG			PROSITE_profiles:PS50053,hmmpanther:PTHR12650,Pfam_domain:PF00240,Gene3D:3.10.20.90,SMART_domains:SM00213,Superfamily_domains:SSF54236,Prints_domain:PR00348	ubiquitin-like protein fubi and ribosomal				ENSP00000434440		5-Mar										5-Mar	.		ENST00000527548	Transcript						ENSG00000149806	g.chr11:64889007A>G	3597			MODERATE		2.795	medium	getma.org/?cm=msa&ty=f&p=E9PM49_HUMAN&rb=5&re=72&var=L62P	getma.org/pdb.php?prot=E9PM49_HUMAN&from=5&to=72&var=L62P	getma.org/?cm=var&var=hg19,11,64889007,A,G&fts=all	L62P	--	--	1																																		FAU_uc001ocy.1_Missense_Mutation_p.L62P|MRPL49_uc001ocz.1_5'Flank|MRPL49_uc001oda.1_5'Flank				probably_damaging(0.94)	p.L62P	NM_001997	NP_001988		deleterious(0.05)		UBIM_HUMAN,RS30_HUMAN	FAU	HGNC	P35544	UBIM_HUMAN			E9PM49_HUMAN		3	292	-			UPI000006EA56	62					SNV	FAU,missense_variant,p.Leu62Pro,ENST00000529259,;FAU,missense_variant,p.Leu62Pro,ENST00000529639,NM_001997.4;FAU,missense_variant,p.Leu62Pro,ENST00000531743,;FAU,missense_variant,p.Leu62Pro,ENST00000527548,;FAU,missense_variant,p.Leu62Pro,ENST00000434372,;FAU,missense_variant,p.Leu62Pro,ENST00000526555,;FAU,missense_variant,p.Leu62Pro,ENST00000279259,;FAU,missense_variant,p.Leu27Pro,ENST00000525297,;MRPL49,upstream_gene_variant,,ENST00000279242,NM_004927.3;ZNHIT2,upstream_gene_variant,,ENST00000310597,NM_014205.2;MRPL49,upstream_gene_variant,,ENST00000533943,;ZNHIT2,upstream_gene_variant,,ENST00000528598,;MRPL49,upstream_gene_variant,,ENST00000534078,;MRPL49,upstream_gene_variant,,ENST00000526171,;MRPL49,upstream_gene_variant,,ENST00000531705,;AP003068.12,downstream_gene_variant,,ENST00000527789,;MRPL49,upstream_gene_variant,,ENST00000524482,;MRPL49,upstream_gene_variant,,ENST00000528529,;FAU,non_coding_transcript_exon_variant,,ENST00000531357,;MRPL49,upstream_gene_variant,,ENST00000532671,;MRPL49,upstream_gene_variant,,ENST00000526319,;SYVN1,downstream_gene_variant,,ENST00000530451,;	uc001ocx.2	c.185T>C	271/538	3	3			c.185T>C						11	SNP	c.(184-186)CTG>CCG	58	58				0	Broad	ubiquitin-like protein fubi and ribosomal			64889007		0.612	ENSG00000149806	5592	g.chr11:64889007A>G										-17.364863	KEEP	1	2	-1	48	56	1	2	-1	6.882773	48	56	0.03	1	0	0	0	0	1	0	0	0	--	--		0	G			FAU_uc001ocy.1_Missense_Mutation_p.L62P|MRPL49_uc001ocz.1_5'Flank|MRPL49_uc001oda.1_5'Flank	23	GBM-06-0145-TP	p.L62P	A	CAGGGTAGTCAGGGCCTCCAC	NM_001997	NP_001988	64889007	P35544	UBIM_HUMAN	0			3	292	-	G	G			Missense_Mutation	62						
FAU	0	broad.mit.edu	GRCh37	11	64888248	64888250	+	inframe_deletion	In_Frame_Del	DEL	TCT	TCT	-	rs1065065		TCGA-26-6174-01	TCGA-26-6174-01	TCT	TCT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000527548.1:c.305_307delAGA	p.Lys102del	p.K102del	ENST00000527548		102	aAGAca/aca	0			1			-	KT/T	uc001ocx.2	protein_coding		CCDS8095.1			305-307/402										0	c.(304-309)AAGACA>ACA			Low_complexity_(Seg):seg,hmmpanther:PTHR12650,Pfam_domain:PF04758	ubiquitin-like protein fubi and ribosomal				ENSP00000434440		5-May	8.24E-05	9.64E-05		0.000116		7.50E-05		0.000182	rs779460331,COSM1721928	5-May	.		ENST00000527548	Transcript						ENSG00000149806	g.chr11:64888248_64888250delTCT	3597			MODERATE								--	--	1																																		FAU_uc001ocy.1_3'UTR|MRPL49_uc001ocz.1_5'Flank|MRPL49_uc001oda.1_5'Flank	0,1				p.K102del	NM_001997	NP_001988			0,1	UBIM_HUMAN,RS30_HUMAN	FAU	HGNC	P35544	UBIM_HUMAN			E9PM49_HUMAN		5	412_414	-			UPI000006EA56	Error:Variant_position_missing_in_P35544_after_alignment					deletion	FAU,inframe_deletion,p.Lys102del,ENST00000529639,NM_001997.4;FAU,inframe_deletion,p.Lys102del,ENST00000531743,;FAU,inframe_deletion,p.Lys102del,ENST00000527548,;FAU,inframe_deletion,p.Lys102del,ENST00000526555,;FAU,inframe_deletion,p.Glu83del,ENST00000279259,;FAU,inframe_deletion,p.Lys67del,ENST00000525297,;FAU,3_prime_UTR_variant,,ENST00000529259,;MRPL49,upstream_gene_variant,,ENST00000279242,NM_004927.3;TM7SF2,downstream_gene_variant,,ENST00000279263,NM_003273.3;TM7SF2,downstream_gene_variant,,ENST00000540748,;TM7SF2,downstream_gene_variant,,ENST00000345348,NM_001277233.1;ZNHIT2,upstream_gene_variant,,ENST00000310597,NM_014205.2;TM7SF2,downstream_gene_variant,,ENST00000528802,;MRPL49,upstream_gene_variant,,ENST00000533943,;ZNHIT2,upstream_gene_variant,,ENST00000528598,;TM7SF2,downstream_gene_variant,,ENST00000527968,;FAU,downstream_gene_variant,,ENST00000434372,;MRPL49,upstream_gene_variant,,ENST00000534078,;MRPL49,upstream_gene_variant,,ENST00000526171,;MRPL49,upstream_gene_variant,,ENST00000531705,;AP003068.12,downstream_gene_variant,,ENST00000527789,;MRPL49,upstream_gene_variant,,ENST00000524482,;MRPL49,upstream_gene_variant,,ENST00000528529,;FAU,non_coding_transcript_exon_variant,,ENST00000531357,;MRPL49,upstream_gene_variant,,ENST00000532671,;TM7SF2,downstream_gene_variant,,ENST00000530650,;MRPL49,upstream_gene_variant,,ENST00000526319,;TM7SF2,downstream_gene_variant,,ENST00000529601,;TM7SF2,downstream_gene_variant,,ENST00000529292,;TM7SF2,downstream_gene_variant,,ENST00000526048,;SYVN1,downstream_gene_variant,,ENST00000530451,;	uc001ocx.2	c.305_307delAGA	391-393/538	5	5			c.305_307delAGA						11	DEL	c.(304-309)AAGACA>ACA	17	17				0	Broad	ubiquitin-like protein fubi and ribosomal			64888250		0.542	ENSG00000149806	5592	g.chr11:64888248_64888250delTCT																							0.05	1	1	0	1	0	0	0	0	0	--	--		0	-			FAU_uc001ocy.1_3'UTR|MRPL49_uc001ocz.1_5'Flank|MRPL49_uc001oda.1_5'Flank	188	GBM-26-6174-TP	p.K102del	TCT	GCCCGACCTGTCTTCTTCTTCTT	NM_001997	NP_001988	64888248	P35544	UBIM_HUMAN	0			5	412_414	-	-	-			In_Frame_Del	Error:Variant_position_missing_in_P35544_after_alignment						
FAXC	0	broad.mit.edu	GRCh37	6	99729047	99729047	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-2491-01	TCGA-32-2491-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389677.5:c.1223G>T	p.Cys408Phe	p.C408F	ENST00000389677	NM_032511.2	408	tGc/tTc	0			1			A	C/F	uc003ppj.3	protein_coding	YES	CCDS34500.1			1223/1230									ovary(2)|central_nervous_system(1)	3	c.(1222-1224)TGC>TTC			hmmpanther:PTHR12289,hmmpanther:PTHR12289:SF27	hypothetical protein LOC84553				ENSP00000374328		6-Jun									COSM3411348	6-Jun	.		ENST00000389677	Transcript						ENSG00000146267	g.chr6:99729047C>A	20742			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=FAXC_HUMAN&rb=371&re=409&var=C408F	NA	getma.org/?cm=var&var=hg19,6,99729047,C,A&fts=all	C408F	--	--	1																																		C6orf168_uc003ppi.3_Missense_Mutation_p.C128F	1	1		benign(0.053)	p.C408F	NM_032511	NP_115900		tolerated_low_confidence(0.28)	1	FAXC_HUMAN	FAXC	HGNC	Q5TGI0	CF168_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.073)	Q9BR58_HUMAN		6	1506	-		all_cancers(76;1.63e-06)|Acute lymphoblastic leukemia(125;5.12e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00898)|Colorectal(196;0.0699)|Lung NSC(302;0.198)	UPI000006FEA4	408					SNV	FAXC,missense_variant,p.Cys408Phe,ENST00000389677,NM_032511.2;FAXC,missense_variant,p.Cys128Phe,ENST00000538471,;FAXC,non_coding_transcript_exon_variant,,ENST00000461803,;	uc003ppj.3	c.1223G>T	1506/11508	2	2			c.1223G>T						6	SNP	c.(1222-1224)TGC>TTC	35	35			ovary(2)|central_nervous_system(1)	3	Broad	hypothetical protein LOC84553			99729047		0.517	ENSG00000146267	2295	g.chr6:99729047C>A										-8.767021	KEEP	2	2	0.5	30	55	2	2	0.5	8.416022	30	55	0.05	1	0	0	0	0	1	0	0	0	--	--		0	A			C6orf168_uc003ppi.3_Missense_Mutation_p.C128F	235	GBM-32-2491-TP	p.C408F	C	ACGTCACTTGCACTGTTCGTG	NM_032511	NP_115900	99729047	Q5TGI0	CF168_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.073)	6	1506	-	A	A		all_cancers(76;1.63e-06)|Acute lymphoblastic leukemia(125;5.12e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00898)|Colorectal(196;0.0699)|Lung NSC(302;0.198)	Missense_Mutation	408						
FBF1	85302	broad.mit.edu	GRCh37	17	73914257	73914257	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319129.5:c.2187C>T	p.Ala729=	p.A729=	ENST00000319129	NM_001080542.1	729	gcC/gcT	0	A:0.0002		1			A	A	uc002jqc.2	protein_coding					2190/3402										0	c.(2185-2187)GCC>GCT				Fas (TNFRSF6) binding factor 1			A:0	ENSP00000465132		20/29									rs375382563,COSM2151780	20/29	.		ENST00000586717	Transcript						ENSG00000188878	g.chr17:73914257G>A	24674			LOW								--	--	1																																		FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Silent_p.A720A|FBF1_uc002jqd.1_Silent_p.A730A|FBF1_uc002jqb.2_RNA|FBF1_uc010dgr.1_Silent_p.A40A	0,1				p.A729A	NM_001080542	NP_001074011			0,1	FBF1_HUMAN	FBF1	HGNC	Q8TES7	FBF1_HUMAN			K7ESG2_HUMAN		20	2461	-			UPI0001596A09	729					SNV	FBF1,synonymous_variant,p.=,ENST00000586717,;FBF1,synonymous_variant,p.=,ENST00000389570,;FBF1,synonymous_variant,p.=,ENST00000319129,NM_001080542.1;FBF1,synonymous_variant,p.=,ENST00000592193,;FBF1,upstream_gene_variant,,ENST00000590264,;FBF1,non_coding_transcript_exon_variant,,ENST00000585990,;RP11-552F3.12,non_coding_transcript_exon_variant,,ENST00000593156,;FBF1,upstream_gene_variant,,ENST00000588283,;FBF1,upstream_gene_variant,,ENST00000593076,;FBF1,downstream_gene_variant,,ENST00000586838,;FBF1,upstream_gene_variant,,ENST00000586112,;RP11-552F3.12,upstream_gene_variant,,ENST00000587556,;	uc002jqc.2	c.2187C>T	2464/4825	2	2			c.2187C>T						17	SNP	c.(2185-2187)GCC>GCT	22	22				0	Broad	Fas (TNFRSF6) binding factor 1			73914257		0.662	ENSG00000188878	5593	g.chr17:73914257G>A										42.970911	KEEP	13	8	-1	13	7	13	8	-1	43.029857	13	7	0.451613	1	0	0	0	0	0	0	1	0	--	--		0	A			FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Silent_p.A720A|FBF1_uc002jqd.1_Silent_p.A730A|FBF1_uc002jqb.2_RNA|FBF1_uc010dgr.1_Silent_p.A40A	68	GBM-06-0747-TP	p.A729A	G	TGTGGGAGGTGGCACTGGTGG	NM_001080542	NP_001074011	73914257	Q8TES7	FBF1_HUMAN	0			20	2461	-	A	A			Silent	729						
FBF1	0	broad.mit.edu	GRCh37	17	73922854	73922854	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-14-4157-01	TCGA-14-4157-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000586717.1:c.538A>G	p.Thr180Ala	p.T180A	ENST00000586717		180	Aca/Gca	0			1			C	T/A	uc002jqc.2	protein_coding					538/3402										0	c.(538-540)ACA>GCA				Fas (TNFRSF6) binding factor 1				ENSP00000465132		29-Sep									COSM3403224	29-Sep	.		ENST00000586717	Transcript						ENSG00000188878	g.chr17:73922854T>C	24674			MODERATE		0.205	neutral	getma.org/?cm=msa&ty=f&p=FBF1_HUMAN&rb=1&re=1131&var=T180A	NA	getma.org/?cm=var&var=hg19,17,73922854,T,C&fts=all	T180A	--	--	1																																		FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Missense_Mutation_p.T170A|FBF1_uc002jqd.1_Missense_Mutation_p.T180A	1			benign(0.003)	p.T180A	NM_001080542	NP_001074011		tolerated(0.8)	1	FBF1_HUMAN	FBF1	HGNC	Q8TES7	FBF1_HUMAN			K7ESG2_HUMAN		9	812	-			UPI0001596A09	180					SNV	FBF1,missense_variant,p.Thr180Ala,ENST00000586717,;FBF1,missense_variant,p.Thr180Ala,ENST00000389570,;FBF1,missense_variant,p.Thr180Ala,ENST00000319129,NM_001080542.1;FBF1,missense_variant,p.Thr194Ala,ENST00000592193,;FBF1,non_coding_transcript_exon_variant,,ENST00000585990,;RP11-552F3.12,non_coding_transcript_exon_variant,,ENST00000593156,;FBF1,upstream_gene_variant,,ENST00000586838,;	uc002jqc.2	c.538A>G	812/4825	3	3			c.538A>G						17	SNP	c.(538-540)ACA>GCA	59	59				0	Broad	Fas (TNFRSF6) binding factor 1			73922854		0.512	ENSG00000188878	5593	g.chr17:73922854T>C										-3.685979	KEEP	2	0	-1	28	22	2	0	-1	6.301534	28	22	0.044444	1	0	0	0	0	1	0	0	0	--	--		0	C			FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Missense_Mutation_p.T170A|FBF1_uc002jqd.1_Missense_Mutation_p.T180A	152	GBM-14-4157-TP	p.T180A	T	TCTCTCACTGTGCTGGGGCTC	NM_001080542	NP_001074011	73922854	Q8TES7	FBF1_HUMAN	0			9	812	-	C	C			Missense_Mutation	180						
FBLIM1	54751	broad.mit.edu	GRCh37	1	16093947	16093947	+	synonymous_variant	Silent	SNP	G	G	A	rs138682032		TCGA-06-2562-01	TCGA-06-2562-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000441801.2:c.327G>A	p.Pro109=	p.P109=	ENST00000441801	NM_001024215.1	109	ccG/ccA	0	A:0.0002		1			A	P	uc001axd.1	protein_coding		CCDS163.1			327/1122									skin(1)	1	c.(325-327)CCG>CCA			hmmpanther:PTHR24207,Low_complexity_(Seg):seg	filamin-binding LIM protein-1 isoform a			A:0.0001	ENSP00000364921		9-Apr	5.77E-05				0.000217	7.52E-05		9.12E-05	rs138682032,COSM2152790,COSM2152789	9-Apr	.		ENST00000375766	Transcript			cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	ENSG00000162458	g.chr1:16093947G>A	24686			LOW								--	--	1																																		FBLIM1_uc001axe.1_Silent_p.P109P|FBLIM1_uc001axf.2_RNA|FBLIM1_uc001axg.1_Silent_p.P109P|FBLIM1_uc001axh.1_Intron|FBLIM1_uc001axi.1_Intron	0,1,1				p.P109P	NM_017556	NP_060026			0,1,1	FBLI1_HUMAN	FBLIM1	HGNC	Q8WUP2	FBLI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)	E7EPI5_HUMAN,E7EN81_HUMAN,D6RAI6_HUMAN,D6RA19_HUMAN,D6R9V9_HUMAN,D6R9I4_HUMAN		5	770	+		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	UPI000013E169	109			Pro-rich.		SNV	FBLIM1,synonymous_variant,p.=,ENST00000375766,NM_017556.2;FBLIM1,synonymous_variant,p.=,ENST00000375771,;FBLIM1,synonymous_variant,p.=,ENST00000441801,NM_001024215.1;FBLIM1,synonymous_variant,p.=,ENST00000483633,;FBLIM1,intron_variant,,ENST00000400773,;FBLIM1,intron_variant,,ENST00000332305,NM_001024216.1;FBLIM1,intron_variant,,ENST00000502739,;FBLIM1,downstream_gene_variant,,ENST00000508310,;FBLIM1,downstream_gene_variant,,ENST00000496928,;FBLIM1,downstream_gene_variant,,ENST00000502638,;FBLIM1,downstream_gene_variant,,ENST00000431771,;FBLIM1,downstream_gene_variant,,ENST00000510393,;FBLIM1,downstream_gene_variant,,ENST00000510929,;FBLIM1,downstream_gene_variant,,ENST00000430076,;	uc001axd.1	c.327G>A	967/3695	1	1			c.327G>A						1	SNP	c.(325-327)CCG>CCA	58	58			skin(1)	1	Broad	filamin-binding LIM protein-1 isoform a			16093947		0.657	ENSG00000162458	5595	g.chr1:16093947G>A	cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding							39.715701	KEEP	5	13	-1	10	4	5	13	-1	39.74599	10	4	0.535714	1	0	0	0	0	0	0	1	0	--	--		0	A			FBLIM1_uc001axe.1_Silent_p.P109P|FBLIM1_uc001axf.2_RNA|FBLIM1_uc001axg.1_Silent_p.P109P|FBLIM1_uc001axh.1_Intron|FBLIM1_uc001axi.1_Intron	85	GBM-06-2562-TP	p.P109P	G	CCCCTCCACCGCCCCCTCCAG	NM_017556	NP_060026	16093947	Q8WUP2	FBLI1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)	5	770	+	A	A		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	Silent	109			Pro-rich.			
FBLN1	0	broad.mit.edu	GRCh37	22	45944523	45944524	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	CCAC			TCGA-12-5301-01	TCGA-12-5301-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327858.6:c.1473_1476dupCCAC	p.Ile493ProfsTer36	p.I493Pfs*36	ENST00000327858	NM_006486.2	491	ggc/ggCCACc	0			1			CCAC	G/GHX	uc003bgj.1	protein_coding	YES	CCDS14067.1			1472-1473/2112									ovary(1)|central_nervous_system(1)	2	c.(1471-1473)GGCfs			PROSITE_profiles:PS50026,hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF70,PROSITE_patterns:PS01187,Gene3D:2.10.25.10,SMART_domains:SM00179,PIRSF_domain:PIRSF036313,SMART_domains:SM00181,Superfamily_domains:SSF57184	fibulin 1 isoform D				ENSP00000331544		13/17										13/17	.		ENST00000327858	Transcript	1		interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	ENSG00000077942	g.chr22:45944523_45944524insCCAC	3600	4		HIGH								--	--	1																																		FBLN1_uc003bgg.1_Frame_Shift_Ins_p.G491fs|FBLN1_uc003bgh.2_Frame_Shift_Ins_p.G491fs|FBLN1_uc010gzz.2_Frame_Shift_Ins_p.G529fs|FBLN1_uc003bgi.1_Frame_Shift_Ins_p.G491fs		1			p.G491fs	NM_006486	NP_006477				FBLN1_HUMAN	FBLN1	HGNC	P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	B1AHM7_HUMAN,B1AHM6_HUMAN,B1AHM5_HUMAN		13	1619_1620	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	UPI00001AE84C	491			EGF-like 8; calcium-binding.		insertion	FBLN1,frameshift_variant,p.Ile493ProfsTer36,ENST00000348697,;FBLN1,frameshift_variant,p.Ile493ProfsTer36,ENST00000327858,NM_006486.2;FBLN1,frameshift_variant,p.Ile493ProfsTer36,ENST00000442170,NM_006485.3;FBLN1,frameshift_variant,p.Ile531ProfsTer36,ENST00000402984,;FBLN1,frameshift_variant,p.Ile493ProfsTer36,ENST00000340923,NM_006487.2;FBLN1,frameshift_variant,p.Ile493ProfsTer36,ENST00000262722,NM_001996.3;FBLN1,intron_variant,,ENST00000476366,;	uc003bgj.1	c.1472_1473insCCAC	1567-1568/2896	5	5			c.1472_1473insCCAC						22	INS	c.(1471-1473)GGCfs	32	32			ovary(1)|central_nervous_system(1)	2	Broad	fibulin 1 isoform D			45944524		0.644	ENSG00000077942	5596	g.chr22:45944523_45944524insCCAC	interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding																				0.34	1	0	0	1	1	0	0	0	0	--	--		0	CCAC			FBLN1_uc003bgg.1_Frame_Shift_Ins_p.G491fs|FBLN1_uc003bgh.2_Frame_Shift_Ins_p.G491fs|FBLN1_uc010gzz.2_Frame_Shift_Ins_p.G529fs|FBLN1_uc003bgi.1_Frame_Shift_Ins_p.G491fs	131	GBM-12-5301-TP	p.G491fs	-	CCCACCGGGGGCCACATCTGCT	NM_006486	NP_006477	45944523	P23142	FBLN1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	13	1619_1620	+	CCAC	CCAC		Ovarian(80;0.00965)|all_neural(38;0.0416)	Frame_Shift_Ins	491			EGF-like 8; calcium-binding.			
FBLN2	2199	broad.mit.edu	GRCh37	3	13679191	13679191	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000404922.3:c.3468G>A	p.Ala1156=	p.A1156=	ENST00000404922	NM_001004019.1	1156	gcG/gcA	0			1			A	A	uc011avb.1	protein_coding		CCDS46762.1			3327/3555									ovary(1)	1	c.(3325-3327)GCG>GCA			hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF72	fibulin 2 isoform b precursor				ENSP00000295760		17/17	4.95E-05					9.08E-05			rs746614248,COSM3408269,COSM3408268	17/17	.		ENST00000295760	Transcript				proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	ENSG00000163520	g.chr3:13679191G>A	3601			LOW								--	--	1																																		FBLN2_uc011auz.1_Silent_p.A1135A|FBLN2_uc011ava.1_Silent_p.A1156A|FBLN2_uc011avc.1_Silent_p.A1156A	0,1,1				p.A1109A	NM_001998	NP_001989			0,1,1	FBLN2_HUMAN	FBLN2	HGNC	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		C9JQS6_HUMAN		17	3452	+			UPI000042B0C2	1109			Domain III.		SNV	FBLN2,synonymous_variant,p.=,ENST00000404922,NM_001004019.1;FBLN2,synonymous_variant,p.=,ENST00000492059,NM_001165035.1;FBLN2,synonymous_variant,p.=,ENST00000295760,NM_001998.2;FBLN2,synonymous_variant,p.=,ENST00000535798,;FBLN2,intron_variant,,ENST00000295761,;FBLN2,intron_variant,,ENST00000421373,;	uc011avb.1	c.3327G>A	3396/4127	2	2			c.3327G>A						3	SNP	c.(3325-3327)GCG>GCA	34	34			ovary(1)	1	Broad	fibulin 2 isoform b precursor			13679191		0.622	ENSG00000163520	5597	g.chr3:13679191G>A		proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent							38.914487	KEEP	8	8	-1	9	15	8	8	-1	39.283355	9	15	0.394737	1	0	0	0	0	0	0	1	0	--	--		0	A			FBLN2_uc011auz.1_Silent_p.A1135A|FBLN2_uc011ava.1_Silent_p.A1156A|FBLN2_uc011avc.1_Silent_p.A1156A	12	GBM-06-0125-TP	p.A1109A	G	TTGGCCCCGCGCCAGCCTTCA	NM_001998	NP_001989	13679191	P98095	FBLN2_HUMAN	0	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		17	3452	+	A	A			Silent	1109			Domain III.			
FBLN2	2199	broad.mit.edu	GRCh37	3	13679197	13679197	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-0185-01	TCGA-06-0185-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000404922.3:c.3474C>A	p.Ala1158=	p.A1158=	ENST00000404922	NM_001004019.1	1158	gcC/gcA	0			1			A	A	uc011avb.1	protein_coding		CCDS46762.1			3333/3555									ovary(1)	1	c.(3331-3333)GCC>GCA			hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF72	fibulin 2 isoform b precursor				ENSP00000295760		17/17									COSM3408271,COSM3408270	17/17	.		ENST00000295760	Transcript				proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	ENSG00000163520	g.chr3:13679197C>A	3601			LOW								--	--	1																																		FBLN2_uc011auz.1_Silent_p.A1137A|FBLN2_uc011ava.1_Silent_p.A1158A|FBLN2_uc011avc.1_Silent_p.A1158A	1,1				p.A1111A	NM_001998	NP_001989			1,1	FBLN2_HUMAN	FBLN2	HGNC	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		C9JQS6_HUMAN		17	3458	+			UPI000042B0C2	1111			Domain III.		SNV	FBLN2,synonymous_variant,p.=,ENST00000404922,NM_001004019.1;FBLN2,synonymous_variant,p.=,ENST00000492059,NM_001165035.1;FBLN2,synonymous_variant,p.=,ENST00000295760,NM_001998.2;FBLN2,synonymous_variant,p.=,ENST00000535798,;FBLN2,intron_variant,,ENST00000295761,;FBLN2,intron_variant,,ENST00000421373,;	uc011avb.1	c.3333C>A	3402/4127	1	1			c.3333C>A						3	SNP	c.(3331-3333)GCC>GCA	59	59			ovary(1)	1	Broad	fibulin 2 isoform b precursor			13679197		0.622	ENSG00000163520	5597	g.chr3:13679197C>A		proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent							6.945755	KEEP	4	4	0.5	42	30	4	4	0.5	17.714925	42	30	0.111111	1	0	0	0	0	0	0	1	0	--	--		0	A			FBLN2_uc011auz.1_Silent_p.A1137A|FBLN2_uc011ava.1_Silent_p.A1158A|FBLN2_uc011avc.1_Silent_p.A1158A	40	GBM-06-0185-TP	p.A1111A	C	CCGCGCCAGCCTTCACGGGGG	NM_001998	NP_001989	13679197	P98095	FBLN2_HUMAN	0	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		17	3458	+	A	A			Silent	1111			Domain III.			
FBLN2	2199	broad.mit.edu	GRCh37	3	13672223	13672223	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01	TCGA-06-0878-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000404922.3:c.2993G>A	p.Arg998His	p.R998H	ENST00000404922	NM_001004019.1	998	cGc/cAc	0			1			A	R/H	uc011avb.1	protein_coding		CCDS46762.1			2852/3555									ovary(1)	1	c.(2851-2853)CGC>CAC			Gene3D:2.10.25.10,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF72,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184	fibulin 2 isoform b precursor				ENSP00000295760		14/17									COSM1419331,COSM1419330	14/17	.		ENST00000295760	Transcript				proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	ENSG00000163520	g.chr3:13672223G>A	3601			MODERATE		0.295	neutral	getma.org/?cm=msa&ty=f&p=FBLN2_HUMAN&rb=943&re=981&var=R951H	getma.org/pdb.php?prot=FBLN2_HUMAN&from=943&to=981&var=R951H	getma.org/?cm=var&var=hg19,3,13672223,G,A&fts=all	R951H	--	--	1																																		FBLN2_uc011auz.1_Missense_Mutation_p.R977H|FBLN2_uc011ava.1_Missense_Mutation_p.R998H|FBLN2_uc011avc.1_Missense_Mutation_p.R998H	1,1			probably_damaging(0.948)	p.R951H	NM_001998	NP_001989		tolerated(0.1)	1,1	FBLN2_HUMAN	FBLN2	HGNC	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		C9JQS6_HUMAN		14	2977	+			UPI000042B0C2	951			EGF-like 8; calcium-binding.		SNV	FBLN2,missense_variant,p.Arg998His,ENST00000404922,NM_001004019.1;FBLN2,missense_variant,p.Arg998His,ENST00000492059,NM_001165035.1;FBLN2,missense_variant,p.Arg951His,ENST00000295760,NM_001998.2;FBLN2,missense_variant,p.Arg977His,ENST00000535798,;FBLN2,upstream_gene_variant,,ENST00000295761,;	uc011avb.1	c.2852G>A	2921/4127	2	2			c.2852G>A						3	SNP	c.(2851-2853)CGC>CAC	35	35			ovary(1)	1	Broad	fibulin 2 isoform b precursor			13672223		0.607	ENSG00000163520	5597	g.chr3:13672223G>A		proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent							31.751251	KEEP	8	3	-1	7	3	8	3	-1	31.799583	7	3	0.555556	1	0	0	0	0	1	0	0	0	--	--		0	A			FBLN2_uc011auz.1_Missense_Mutation_p.R977H|FBLN2_uc011ava.1_Missense_Mutation_p.R998H|FBLN2_uc011avc.1_Missense_Mutation_p.R998H	74	GBM-06-0878-TP	p.R951H	G	GAGGCCCAGCGCTGCAGCCAG	NM_001998	NP_001989	13672223	P98095	FBLN2_HUMAN	0	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		14	2977	+	A	A			Missense_Mutation	951			EGF-like 8; calcium-binding.			
FBLN2	0	broad.mit.edu	GRCh37	3	13670486	13670486	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-5959-01	TCGA-19-5959-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295760.7:c.2510A>G	p.Gln837Arg	p.Q837R	ENST00000295760	NM_001998.2	837	cAg/cGg	0			1			G	Q/R	uc011avb.1	protein_coding		CCDS46762.1			2510/3555									ovary(1)	1	c.(2509-2511)CAG>CGG			Gene3D:2.10.25.10,Pfam_domain:PF07645,hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF72,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184	fibulin 2 isoform b precursor				ENSP00000295760		17-Nov	3.30E-05							0.000243	rs752000409,COSM3408265,COSM3408264	17-Nov	.		ENST00000295760	Transcript				proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	ENSG00000163520	g.chr3:13670486A>G	3601			MODERATE		0.565	neutral	getma.org/?cm=msa&ty=f&p=FBLN2_HUMAN&rb=810&re=856&var=Q837R	NA	getma.org/?cm=var&var=hg19,3,13670486,A,G&fts=all	Q837R	--	--	1																																		FBLN2_uc011auz.1_Missense_Mutation_p.Q863R|FBLN2_uc011ava.1_Missense_Mutation_p.Q884R|FBLN2_uc011avc.1_Missense_Mutation_p.Q884R	0,1,1			possibly_damaging(0.534)	p.Q837R	NM_001998	NP_001989		deleterious(0.04)	0,1,1	FBLN2_HUMAN	FBLN2	HGNC	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		C9JQS6_HUMAN		11	2635	+			UPI000042B0C2	837			EGF-like 5; calcium-binding.		SNV	FBLN2,missense_variant,p.Gln884Arg,ENST00000404922,NM_001004019.1;FBLN2,missense_variant,p.Gln884Arg,ENST00000492059,NM_001165035.1;FBLN2,missense_variant,p.Gln837Arg,ENST00000295760,NM_001998.2;FBLN2,missense_variant,p.Gln863Arg,ENST00000535798,;FBLN2,upstream_gene_variant,,ENST00000295761,;	uc011avb.1	c.2510A>G	2579/4127	3	3			c.2510A>G						3	SNP	c.(2509-2511)CAG>CGG	56	56			ovary(1)	1	Broad	fibulin 2 isoform b precursor			13670486		0.652	ENSG00000163520	5597	g.chr3:13670486A>G		proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent							16.043923	KEEP	3	3	-1	2	9	3	3	-1	16.264122	2	9	0.375	1	0	0	0	0	1	0	0	0	--	--		0	G			FBLN2_uc011auz.1_Missense_Mutation_p.Q863R|FBLN2_uc011ava.1_Missense_Mutation_p.Q884R|FBLN2_uc011avc.1_Missense_Mutation_p.Q884R	177	GBM-19-5959-TP	p.Q837R	A	TACACATGCCAGAGGAACCCG	NM_001998	NP_001989	13670486	P98095	FBLN2_HUMAN	0	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		11	2635	+	G	G			Missense_Mutation	837			EGF-like 5; calcium-binding.			
FBLN2	0	broad.mit.edu	GRCh37	3	13679189	13679189	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01	TCGA-28-2502-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295760.7:c.3325G>A	p.Ala1109Thr	p.A1109T	ENST00000295760	NM_001998.2	1109	Gcg/Acg	0			1			A	A/T	uc011avb.1	protein_coding		CCDS46762.1			3325/3555									ovary(1)	1	c.(3325-3327)GCG>ACG			hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF72	fibulin 2 isoform b precursor				ENSP00000295760		17/17									COSM244456,COSM244455	17/17	.		ENST00000295760	Transcript				proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	ENSG00000163520	g.chr3:13679189G>A	3601			MODERATE		-0.75	neutral	getma.org/?cm=msa&ty=f&p=FBLN2_HUMAN&rb=1098&re=1178&var=A1109T	NA	getma.org/?cm=var&var=hg19,3,13679189,G,A&fts=all	A1109T	--	--	1																																		FBLN2_uc011auz.1_Missense_Mutation_p.A1135T|FBLN2_uc011ava.1_Missense_Mutation_p.A1156T|FBLN2_uc011avc.1_Missense_Mutation_p.A1156T	1,1			benign(0.029)	p.A1109T	NM_001998	NP_001989		tolerated(0.08)	1,1	FBLN2_HUMAN	FBLN2	HGNC	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		C9JQS6_HUMAN		17	3450	+			UPI000042B0C2	1109			Domain III.		SNV	FBLN2,missense_variant,p.Ala1156Thr,ENST00000404922,NM_001004019.1;FBLN2,missense_variant,p.Ala1156Thr,ENST00000492059,NM_001165035.1;FBLN2,missense_variant,p.Ala1109Thr,ENST00000295760,NM_001998.2;FBLN2,missense_variant,p.Ala1135Thr,ENST00000535798,;FBLN2,intron_variant,,ENST00000295761,;FBLN2,intron_variant,,ENST00000421373,;	uc011avb.1	c.3325G>A	3394/4127	1	1			c.3325G>A						3	SNP	c.(3325-3327)GCG>ACG	57	57			ovary(1)	1	Broad	fibulin 2 isoform b precursor			13679189		0.622	ENSG00000163520	5597	g.chr3:13679189G>A		proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent							28.579158	KEEP	5	7	-1	20	17	5	7	-1	31.13113	20	17	0.255319	1	0	0	0	0	1	0	0	0	--	--		0	A			FBLN2_uc011auz.1_Missense_Mutation_p.A1135T|FBLN2_uc011ava.1_Missense_Mutation_p.A1156T|FBLN2_uc011avc.1_Missense_Mutation_p.A1156T	210	GBM-28-2502-TP	p.A1109T	G	CATTGGCCCCGCGCCAGCCTT	NM_001998	NP_001989	13679189	P98095	FBLN2_HUMAN	0	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		17	3450	+	A	A			Missense_Mutation	1109			Domain III.			
FBLN2	0	broad.mit.edu	GRCh37	3	13679178	13679178	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-2575-01	TCGA-41-2575-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295760.7:c.3314G>A	p.Arg1105His	p.R1105H	ENST00000295760	NM_001998.2	1105	cGc/cAc	0	A:0.0002		1			A	R/H	uc011avb.1	protein_coding		CCDS46762.1			3314/3555									ovary(1)	1	c.(3313-3315)CGC>CAC			hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF72	fibulin 2 isoform b precursor			A:0	ENSP00000295760		17/17	8.25E-06	0.000105							rs369694803,COSM3408267,COSM3408266	17/17	.		ENST00000295760	Transcript				proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	ENSG00000163520	g.chr3:13679178G>A	3601			MODERATE		2.32	medium	getma.org/?cm=msa&ty=f&p=FBLN2_HUMAN&rb=1098&re=1178&var=R1105H	NA	getma.org/?cm=var&var=hg19,3,13679178,G,A&fts=all	R1105H	--	--	1																																		FBLN2_uc011auz.1_Missense_Mutation_p.R1131H|FBLN2_uc011ava.1_Missense_Mutation_p.R1152H|FBLN2_uc011avc.1_Missense_Mutation_p.R1152H	0,1,1			probably_damaging(0.988)	p.R1105H	NM_001998	NP_001989		deleterious(0.01)	0,1,1	FBLN2_HUMAN	FBLN2	HGNC	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		C9JQS6_HUMAN		17	3439	+			UPI000042B0C2	1105			Domain III.		SNV	FBLN2,missense_variant,p.Arg1152His,ENST00000404922,NM_001004019.1;FBLN2,missense_variant,p.Arg1152His,ENST00000492059,NM_001165035.1;FBLN2,missense_variant,p.Arg1105His,ENST00000295760,NM_001998.2;FBLN2,missense_variant,p.Arg1131His,ENST00000535798,;FBLN2,intron_variant,,ENST00000295761,;FBLN2,intron_variant,,ENST00000421373,;	uc011avb.1	c.3314G>A	3383/4127	1	1			c.3314G>A						3	SNP	c.(3313-3315)CGC>CAC	56	56			ovary(1)	1	Broad	fibulin 2 isoform b precursor			13679178		0.617	ENSG00000163520	5597	g.chr3:13679178G>A		proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent							60.473621	KEEP	13	9	-1	8	13	13	9	-1	60.473621	8	13	0.5	1	0	0	0	0	1	0	0	0	--	--		0	A			FBLN2_uc011auz.1_Missense_Mutation_p.R1131H|FBLN2_uc011ava.1_Missense_Mutation_p.R1152H|FBLN2_uc011avc.1_Missense_Mutation_p.R1152H	253	GBM-41-2575-TP	p.R1105H	G	CATATCTTCCGCATTGGCCCC	NM_001998	NP_001989	13679178	P98095	FBLN2_HUMAN	0	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		17	3439	+	A	A			Missense_Mutation	1105			Domain III.			
FBLN2	0	broad.mit.edu	GRCh37	3	13613045	13613045	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6285-01	TCGA-76-6285-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295760.7:c.1190C>A	p.Ala397Asp	p.A397D	ENST00000295760	NM_001998.2	397	gCc/gAc	0			1			A	A/D	uc011avb.1	protein_coding		CCDS46762.1			1190/3555									ovary(1)	1	c.(1189-1191)GCC>GAC			hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF72	fibulin 2 isoform b precursor				ENSP00000295760		17-Feb									COSM3408259	17-Feb	.		ENST00000295760	Transcript				proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	ENSG00000163520	g.chr3:13613045C>A	3601			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=FBLN2_HUMAN&rb=308&re=444&var=A397D	NA	getma.org/?cm=var&var=hg19,3,13613045,C,A&fts=all	A397D	--	--	1																																		FBLN2_uc011auz.1_Missense_Mutation_p.A423D|FBLN2_uc011ava.1_Missense_Mutation_p.A397D|FBLN2_uc011avc.1_Missense_Mutation_p.A397D	1			benign(0.393)	p.A397D	NM_001998	NP_001989		tolerated(0.23)	1	FBLN2_HUMAN	FBLN2	HGNC	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		C9JQS6_HUMAN		2	1315	+			UPI000042B0C2	397			Subdomain NB (Cys-free).|N.		SNV	FBLN2,missense_variant,p.Ala397Asp,ENST00000404922,NM_001004019.1;FBLN2,missense_variant,p.Ala397Asp,ENST00000492059,NM_001165035.1;FBLN2,missense_variant,p.Ala397Asp,ENST00000295760,NM_001998.2;FBLN2,missense_variant,p.Ala423Asp,ENST00000535798,;FBLN2,downstream_gene_variant,,ENST00000465610,;	uc011avb.1	c.1190C>A	1259/4127	2	2			c.1190C>A						3	SNP	c.(1189-1191)GCC>GAC	25	25			ovary(1)	1	Broad	fibulin 2 isoform b precursor			13613045		0.622	ENSG00000163520	5597	g.chr3:13613045C>A		proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent							17.810885	KEEP	2	6	0.75	7	15	2	6	0.75	19.402066	7	15	0.25	1	0	0	0	0	1	0	0	0	--	--		0	A			FBLN2_uc011auz.1_Missense_Mutation_p.A423D|FBLN2_uc011ava.1_Missense_Mutation_p.A397D|FBLN2_uc011avc.1_Missense_Mutation_p.A397D	280	GBM-76-6285-TP	p.A397D	C	CCTGATGCAGCCTGGATCCCA	NM_001998	NP_001989	13613045	P98095	FBLN2_HUMAN	0	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		2	1315	+	A	A			Missense_Mutation	397			Subdomain NB (Cys-free).|N.			
FBLN5	0	broad.mit.edu	GRCh37	14	92343924	92343924	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342058.4:c.1092C>T	p.Asp364=	p.D364=	ENST00000342058	NM_006329.3	364	gaC/gaT	0			1			A	D	uc001xzx.3	protein_coding	YES	CCDS9898.1			1092/1347									ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6	c.(1090-1092)GAC>GAT			hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF1	fibulin 5 precursor				ENSP00000345008		11-Oct									COSM3401522	11-Oct	.		ENST00000342058	Transcript	1		cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	ENSG00000140092	g.chr14:92343924G>A	3602			LOW								--	--	1																																		FBLN5_uc010aud.2_Silent_p.D369D|FBLN5_uc010aue.2_Silent_p.D405D|FBLN5_uc001xzw.2_5'Flank	1	1			p.D364D	NM_006329	NP_006320			1	FBLN5_HUMAN	FBLN5	HGNC	Q9UBX5	FBLN5_HUMAN			G3V3Y2_HUMAN		10	1565	-		all_cancers(154;0.0722)	UPI0000001070	364					SNV	FBLN5,synonymous_variant,p.=,ENST00000267620,;FBLN5,synonymous_variant,p.=,ENST00000342058,NM_006329.3;FBLN5,synonymous_variant,p.=,ENST00000556154,;FBLN5,synonymous_variant,p.=,ENST00000554121,;FBLN5,upstream_gene_variant,,ENST00000556961,;	uc001xzx.3	c.1092C>T	1686/2123	2	2			c.1092C>T						14	SNP	c.(1090-1092)GAC>GAT	36	36			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6	Broad	fibulin 5 precursor			92343924		0.537	ENSG00000140092	5598	g.chr14:92343924G>A	cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			478			478	-6.266016	KEEP	8	6	-1	72	73	8	6	-1	18.396194	72	73	0.075188	1	0	0	0	0	0	0	1	0	--	--		0	A			FBLN5_uc010aud.2_Silent_p.D369D|FBLN5_uc010aue.2_Silent_p.D405D|FBLN5_uc001xzw.2_5'Flank	197	GBM-27-1838-TP	p.D364D	G	TTTGGAAGATGTCAGCGGGAA	NM_006329	NP_006320	92343924	Q9UBX5	FBLN5_HUMAN	0			10	1565	-	A	A		all_cancers(154;0.0722)	Silent	364						
FBLN5	0	broad.mit.edu	GRCh37	14	92403398	92403398	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1986-01	TCGA-32-1986-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342058.4:c.272C>T	p.Pro91Leu	p.P91L	ENST00000342058	NM_006329.3	91	cCg/cTg	0			1			A	P/L	uc001xzx.3	protein_coding	YES	CCDS9898.1			272/1347									ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6	c.(271-273)CCG>CTG			hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF1,Low_complexity_(Seg):seg	fibulin 5 precursor				ENSP00000345008		11-Apr									COSM2251688	11-Apr	.		ENST00000342058	Transcript	1		cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	ENSG00000140092	g.chr14:92403398G>A	3602			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=FBLN5_HUMAN&rb=85&re=126&var=P91L	NA	getma.org/?cm=var&var=hg19,14,92403398,G,A&fts=all	P91L	--	--	1																																		FBLN5_uc010aud.2_Missense_Mutation_p.P96L|FBLN5_uc010aue.2_Missense_Mutation_p.P132L	1	1		benign(0)	p.P91L	NM_006329	NP_006320		tolerated(0.17)	1	FBLN5_HUMAN	FBLN5	HGNC	Q9UBX5	FBLN5_HUMAN			G3V3Y2_HUMAN		4	745	-		all_cancers(154;0.0722)	UPI0000001070	91					SNV	FBLN5,missense_variant,p.Pro132Leu,ENST00000267620,;FBLN5,missense_variant,p.Pro91Leu,ENST00000342058,NM_006329.3;FBLN5,missense_variant,p.Pro96Leu,ENST00000556154,;FBLN5,missense_variant,p.Pro91Leu,ENST00000554468,;FBLN5,non_coding_transcript_exon_variant,,ENST00000557462,;FBLN5,3_prime_UTR_variant,,ENST00000557088,;FBLN5,downstream_gene_variant,,ENST00000557570,;	uc001xzx.3	c.272C>T	866/2123	1	1			c.272C>T						14	SNP	c.(271-273)CCG>CTG	60	60			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6	Broad	fibulin 5 precursor			92403398		0.433	ENSG00000140092	5598	g.chr14:92403398G>A	cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding		p.P132L(IPC298-Tumor)	478		p.P132L(IPC298-Tumor)	478	106.858096	KEEP	15	22	-1	50	35	15	22	-1	110.435898	50	35	0.313043	1	0	0	0	0	1	0	0	0	--	--		0	A			FBLN5_uc010aud.2_Missense_Mutation_p.P96L|FBLN5_uc010aue.2_Missense_Mutation_p.P132L	233	GBM-32-1986-TP	p.P91L	G	TGCTGGGTACGGACCTgagta	NM_006329	NP_006320	92403398	Q9UBX5	FBLN5_HUMAN	0			4	745	-	A	A		all_cancers(154;0.0722)	Missense_Mutation	91						
FBLN7	129804		GRCh37	2	112944813	112944813	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000331203.2:c.1050G>A	p.Thr350=	p.T350=	ENST00000331203	NM_001128165.1	350	acG/acA	0																																																																																																																																																																																																																																												
FBN1	2200	broad.mit.edu	GRCh37	15	48787734	48787734	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0241-01	TCGA-06-0241-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316623.5:c.2471G>A	p.Ser824Asn	p.S824N	ENST00000316623	NM_000138.4	824	aGc/aAc	0			1			T	S/N	uc001zwx.1	protein_coding	YES	CCDS32232.1			2471/8616									ovary(2)|large_intestine(1)	3	c.(2470-2472)AGC>AAC			Gene3D:2.10.25.10,PIRSF_domain:PIRSF036312,PROSITE_patterns:PS00010,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF22,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184	fibrillin 1 precursor				ENSP00000325527		21/66									COSM2151170	21/66	.		ENST00000316623	Transcript	1		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	ENSG00000166147	g.chr15:48787734C>T	3603			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=FBN1_HUMAN&rb=807&re=846&var=S824N	getma.org/pdb.php?prot=FBN1_HUMAN&from=807&to=846&var=S824N	getma.org/?cm=var&var=hg19,15,48787734,C,T&fts=all	S824N	--	--	1																																			1	1		benign(0.02)	p.S824N	NM_000138	NP_000129			1	FBN1_HUMAN	FBN1	HGNC	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	Q75N89_HUMAN,Q75N88_HUMAN,H0YN80_HUMAN		21	2799	-		all_lung(180;0.00279)	UPI0000163B0B	824			EGF-like 13; calcium-binding.		SNV	FBN1,missense_variant,p.Ser824Asn,ENST00000316623,NM_000138.4;FBN1,intron_variant,,ENST00000537463,;	uc001zwx.1	c.2471G>A	2927/11756	2	2			c.2471G>A						15	SNP	c.(2470-2472)AGC>AAC	20	20			ovary(2)|large_intestine(1)	3	Broad	fibrillin 1 precursor			48787734		0.368	ENSG00000166147	5600	g.chr15:48787734C>T	heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			2933			2933	543.850451	KEEP	96	119	-1	139	141	96	119	-1	545.516383	139	141	0.432039	1	0	0	0	0	1	0	0	0	--	--		0	T				57	GBM-06-0241-TP	p.S824N	C	AGAGCCTGGGCTGTTCTTGCA	NM_000138	NP_000129	48787734	P35555	FBN1_HUMAN	0		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	21	2799	-	T	T		all_lung(180;0.00279)	Missense_Mutation	824			EGF-like 13; calcium-binding.			
FBN1	0	broad.mit.edu	GRCh37	15	48760692	48760692	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01	TCGA-27-2526-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316623.5:c.4499G>A	p.Gly1500Glu	p.G1500E	ENST00000316623	NM_000138.4	1500	gGg/gAg	0			1			T	G/E	uc001zwx.1	protein_coding	YES	CCDS32232.1			4499/8616									ovary(2)|large_intestine(1)	3	c.(4498-4500)GGG>GAG			Gene3D:2.10.25.10,Pfam_domain:PF07645,PIRSF_domain:PIRSF036312,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF22,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196	fibrillin 1 precursor				ENSP00000325527		37/66									COSM3401776	37/66	.		ENST00000316623	Transcript	1		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	ENSG00000166147	g.chr15:48760692C>T	3603			MODERATE		2.055	medium	getma.org/?cm=msa&ty=f&p=FBN1_HUMAN&rb=1487&re=1534&var=G1500E	getma.org/pdb.php?prot=FBN1_HUMAN&from=1487&to=1534&var=G1500E	getma.org/?cm=var&var=hg19,15,48760692,C,T&fts=all	G1500E	--	--	1																																		FBN1_uc010beo.1_5'Flank	1	1		probably_damaging(1)	p.G1500E	NM_000138	NP_000129			1	FBN1_HUMAN	FBN1	HGNC	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	Q75N89_HUMAN,Q75N88_HUMAN,H0YN80_HUMAN		37	4827	-		all_lung(180;0.00279)	UPI0000163B0B	1500			EGF-like 26; calcium-binding.		SNV	FBN1,missense_variant,p.Gly1500Glu,ENST00000316623,NM_000138.4;FBN1,3_prime_UTR_variant,,ENST00000537463,;FBN1,upstream_gene_variant,,ENST00000559133,;	uc001zwx.1	c.4499G>A	4955/11756	1	1			c.4499G>A						15	SNP	c.(4498-4500)GGG>GAG	12	12			ovary(2)|large_intestine(1)	3	Broad	fibrillin 1 precursor			48760692		0.473	ENSG00000166147	5600	g.chr15:48760692C>T	heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			2933			2933	98.385502	KEEP	18	16	-1	25	29	18	16	-1	99.165228	25	29	0.395062	1	0	0	0	0	1	0	0	0	--	--		0	T			FBN1_uc010beo.1_5'Flank	203	GBM-27-2526-TP	p.G1500E	C	GACACAGTTCCCACTGATGCA	NM_000138	NP_000129	48760692	P35555	FBN1_HUMAN	0		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	37	4827	-	T	T		all_lung(180;0.00279)	Missense_Mutation	1500			EGF-like 26; calcium-binding.			
FBN2	2201	broad.mit.edu	GRCh37	5	127800505	127800505	+	synonymous_variant	Silent	SNP	C	C	T	rs150087436	byFrequency;by1000genomes	TCGA-06-0650-01	TCGA-06-0650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000508053.1:c.738G>A	p.Ala246=	p.A246=	ENST00000508053		246	gcG/gcA	0	T:0.0002	T:0.0008	1	T:0		T	A	uc003kuu.2	protein_coding		CCDS34222.1			738/8739						benign			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15	c.(736-738)GCG>GCA			Gene3D:3.90.290.10,Pfam_domain:PF00683,PIRSF_domain:PIRSF036312,PROSITE_profiles:PS51364,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,Superfamily_domains:SSF57581	fibrillin 2 precursor		T:0	T:0.003	ENSP00000262464	T:0.003	Jun-65	0.00154	0.000481	0.000432		0.000907	0.00256			rs150087436,COSM3409705,COSM3409706	Jun-65	common_variant		ENST00000262464	Transcript	1	T:0.0008	bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	ENSG00000138829	g.chr5:127800505C>T	3604			LOW								--	--	1																																		FBN2_uc003kuv.2_Silent_p.A213A|FBN2_uc003kuw.3_Silent_p.A246A|FBN2_uc003kux.1_Silent_p.A246A	1,1,1				p.A246A	NM_001999	NP_001990	T:0		0,1,1	FBN2_HUMAN	FBN2	HGNC	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)			6	1177	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	UPI0000519468	246			TB 1.		SNV	FBN2,synonymous_variant,p.=,ENST00000508053,;FBN2,synonymous_variant,p.=,ENST00000262464,NM_001999.3;FBN2,synonymous_variant,p.=,ENST00000508989,;FBN2,synonymous_variant,p.=,ENST00000502468,;FBN2,non_coding_transcript_exon_variant,,ENST00000514742,;	uc003kuu.2	c.738G>A	1177/10724	2	2			c.738G>A						5	SNP	c.(736-738)GCG>GCA	46	46			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15	Broad	fibrillin 2 precursor			127800505		0.607	ENSG00000138829	5601	g.chr5:127800505C>T	bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent		p.A246A(HS688A.T-Tumor)|p.A246A(SCLC21H-Tumor)|p.A246A(A204-Tumor)	1552		p.A246A(HS688A.T-Tumor)|p.A246A(SCLC21H-Tumor)|p.A246A(A204-Tumor)	1552	2.88547	KEEP	7	3	-1	41	72	7	3	-1	22.985792	41	72	0.086207	1	0	0	0	0	0	0	1	0	--	--		0	T			FBN2_uc003kuv.2_Silent_p.A213A|FBN2_uc003kuw.3_Silent_p.A246A|FBN2_uc003kux.1_Silent_p.A246A	63	GBM-06-0650-TP	p.A246A	C	GATGGCCCCACGCCCGTCCAA	NM_001999	NP_001990	127800505	P35556	FBN2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	6	1177	-	T	T		all_cancers(142;0.0216)|Prostate(80;0.0551)	Silent	246			TB 1.			
FBN2	2201	broad.mit.edu	GRCh37	5	127728897	127728897	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0879-01	TCGA-06-0879-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000508053.1:c.1396G>A	p.Gly466Ser	p.G466S	ENST00000508053		466	Ggc/Agc	0			1			T	G/S	uc003kuu.2	protein_coding		CCDS34222.1			1396/8739									ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15	c.(1396-1398)GGC>AGC			PIRSF_domain:PIRSF036312,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,Low_complexity_(Seg):seg	fibrillin 2 precursor				ENSP00000262464		Oct-65									COSM2152281,COSM2152280	Oct-65	.		ENST00000262464	Transcript	1		bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	ENSG00000138829	g.chr5:127728897C>T	3604			MODERATE		2.88	medium	getma.org/?cm=msa&ty=f&p=FBN2_HUMAN&rb=417&re=574&var=G466S	NA	getma.org/?cm=var&var=hg19,5,127728897,C,T&fts=all	G466S	--	--	1																																		FBN2_uc003kuv.2_Missense_Mutation_p.G433S	1,1			benign(0.019)	p.G466S	NM_001999	NP_001990		tolerated(0.09)	1,1	FBN2_HUMAN	FBN2	HGNC	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)			10	1835	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	UPI0000519468	466					SNV	FBN2,missense_variant,p.Gly466Ser,ENST00000508053,;FBN2,missense_variant,p.Gly466Ser,ENST00000262464,NM_001999.3;FBN2,missense_variant,p.Gly433Ser,ENST00000508989,;	uc003kuu.2	c.1396G>A	1835/10724	2	2			c.1396G>A						5	SNP	c.(1396-1398)GGC>AGC	43	43			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15	Broad	fibrillin 2 precursor			127728897		0.587	ENSG00000138829	5601	g.chr5:127728897C>T	bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			1552			1552	205.514579	KEEP	40	41	-1	61	73	40	41	-1	208.08795	61	73	0.377551	1	0	0	0	0	1	0	0	0	--	--		0	T			FBN2_uc003kuv.2_Missense_Mutation_p.G433S	75	GBM-06-0879-TP	p.G466S	C	GGAGAAAAGCCATTGCCTCCA	NM_001999	NP_001990	127728897	P35556	FBN2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	10	1835	-	T	T		all_cancers(142;0.0216)|Prostate(80;0.0551)	Missense_Mutation	466						
FBN2	2201	broad.mit.edu	GRCh37	5	127728841	127728841	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-2559-01	TCGA-06-2559-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000508053.1:c.1452C>A	p.Ile484=	p.I484=	ENST00000508053		484	atC/atA	0			1			T	I	uc003kuu.2	protein_coding		CCDS34222.1			1452/8739									ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15	c.(1450-1452)ATC>ATA			PIRSF_domain:PIRSF036312,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,Low_complexity_(Seg):seg	fibrillin 2 precursor				ENSP00000262464		Oct-65									COSM2152672,COSM2152671	Oct-65	.		ENST00000262464	Transcript	1		bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	ENSG00000138829	g.chr5:127728841G>T	3604			LOW								--	--	1																																		FBN2_uc003kuv.2_Silent_p.I451I	1,1				p.I484I	NM_001999	NP_001990			1,1	FBN2_HUMAN	FBN2	HGNC	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)			10	1891	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	UPI0000519468	484					SNV	FBN2,synonymous_variant,p.=,ENST00000508053,;FBN2,synonymous_variant,p.=,ENST00000262464,NM_001999.3;FBN2,synonymous_variant,p.=,ENST00000508989,;	uc003kuu.2	c.1452C>A	1891/10724	2	2			c.1452C>A						5	SNP	c.(1450-1452)ATC>ATA	33	33			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15	Broad	fibrillin 2 precursor			127728841		0.498	ENSG00000138829	5601	g.chr5:127728841G>T	bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			1552			1552	222.059904	KEEP	47	42	0.528089888	54	81	47	42	0.528089888	223.721882	54	81	0.4	1	0	0	0	0	0	0	1	0	--	--		0	T			FBN2_uc003kuv.2_Silent_p.I451I	83	GBM-06-2559-TP	p.I484I	G	GTCCAGTGATGATAGGTCCCT	NM_001999	NP_001990	127728841	P35556	FBN2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	10	1891	-	T	T		all_cancers(142;0.0216)|Prostate(80;0.0551)	Silent	484						
FBN2	0	broad.mit.edu	GRCh37	5	127611828	127611828	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-41-4097-01	TCGA-41-4097-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262464.4:c.7496C>A	p.Pro2499Gln	p.P2499Q	ENST00000262464	NM_001999.3	2499	cCg/cAg	0			1			T	P/Q	uc003kuu.2	protein_coding		CCDS34222.1			7496/8739									ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15	c.(7495-7497)CCG>CAG			Gene3D:2.10.25.10,Pfam_domain:PF07645,PIRSF_domain:PIRSF036312,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184	fibrillin 2 precursor				ENSP00000262464		59/65									COSM3409693,COSM3409694	59/65	.		ENST00000262464	Transcript	1		bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	ENSG00000138829	g.chr5:127611828G>T	3604			MODERATE		0.79	neutral	getma.org/?cm=msa&ty=f&p=FBN2_HUMAN&rb=2491&re=2530&var=P2499Q	getma.org/pdb.php?prot=FBN2_HUMAN&from=2491&to=2530&var=P2499Q	getma.org/?cm=var&var=hg19,5,127611828,G,T&fts=all	P2499Q	--	--	1																																			1,1			probably_damaging(0.998)	p.P2499Q	NM_001999	NP_001990		deleterious(0.02)	1,1	FBN2_HUMAN	FBN2	HGNC	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)			59	7935	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	UPI0000519468	2499			EGF-like 42; calcium-binding.		SNV	FBN2,missense_variant,p.Pro2499Gln,ENST00000508053,;FBN2,missense_variant,p.Pro2499Gln,ENST00000262464,NM_001999.3;	uc003kuu.2	c.7496C>A	7935/10724	2	2			c.7496C>A						5	SNP	c.(7495-7497)CCG>CAG	42	42			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15	Broad	fibrillin 2 precursor			127611828		0.433	ENSG00000138829	5601	g.chr5:127611828G>T	bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			1552			1552	118.414866	KEEP	20	29	0.408163265	69	82	20	29	0.408163265	128.589441	69	82	0.248588	1	0	0	0	0	1	0	0	0	--	--		0	T				257	GBM-41-4097-TP	p.P2499Q	G	GCATGGTTTCGGGGACTGGGA	NM_001999	NP_001990	127611828	P35556	FBN2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	59	7935	-	T	T		all_cancers(142;0.0216)|Prostate(80;0.0551)	Missense_Mutation	2499			EGF-like 42; calcium-binding.			
FBN2	0	broad.mit.edu	GRCh37	5	127729056	127729056	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-4928-01	TCGA-76-4928-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262464.4:c.1237T>C	p.Tyr413His	p.Y413H	ENST00000262464	NM_001999.3	413	Tat/Cat	0			1			G	Y/H	uc003kuu.2	protein_coding		CCDS34222.1			1237/8739									ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15	c.(1237-1239)TAT>CAT			Gene3D:3.90.290.10,Pfam_domain:PF00683,PIRSF_domain:PIRSF036312,PROSITE_profiles:PS51364,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,Superfamily_domains:SSF57581	fibrillin 2 precursor				ENSP00000262464		Oct-65									COSM3409703,COSM3409704	Oct-65	.		ENST00000262464	Transcript	1		bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	ENSG00000138829	g.chr5:127729056A>G	3604			MODERATE		1.22	low	getma.org/?cm=msa&ty=f&p=FBN2_HUMAN&rb=373&re=416&var=Y413H	NA	getma.org/?cm=var&var=hg19,5,127729056,A,G&fts=all	Y413H	--	--	1																																		FBN2_uc003kuv.2_Missense_Mutation_p.Y380H	1,1			benign(0.002)	p.Y413H	NM_001999	NP_001990		tolerated(0.15)	1,1	FBN2_HUMAN	FBN2	HGNC	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)			10	1676	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	UPI0000519468	413			TB 2.		SNV	FBN2,missense_variant,p.Tyr413His,ENST00000508053,;FBN2,missense_variant,p.Tyr413His,ENST00000262464,NM_001999.3;FBN2,missense_variant,p.Tyr380His,ENST00000508989,;	uc003kuu.2	c.1237T>C	1676/10724	3	3			c.1237T>C						5	SNP	c.(1237-1239)TAT>CAT	64	64			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15	Broad	fibrillin 2 precursor			127729056		0.473	ENSG00000138829	5601	g.chr5:127729056A>G	bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			1552			1552	49.600385	KEEP	10	12	-1	48	66	10	12	-1	63.311447	48	66	0.164062	1	0	0	0	0	1	0	0	0	--	--		0	G			FBN2_uc003kuv.2_Missense_Mutation_p.Y380H	268	GBM-76-4928-TP	p.Y413H	A	AGTCTGCGATATTCCTCTAGA	NM_001999	NP_001990	127729056	P35556	FBN2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	10	1676	-	G	G		all_cancers(142;0.0216)|Prostate(80;0.0551)	Missense_Mutation	413			TB 2.			
FBN2	2201		GRCh37	5	127728993	127728993	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000508053.1:c.1300C>A	p.Pro434Thr	p.P434T	ENST00000508053		434	Cct/Act	0																																																																																																																																																																																																																																												
FBN2	2201		GRCh37	5	127624839	127624839	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000508053.1:c.6617A>G	p.Tyr2206Cys	p.Y2206C	ENST00000508053		2206	tAc/tGc	0																																																																																																																																																																																																																																												
FBN2	2201		GRCh37	5	127674667	127674667	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000508053.1:c.3430G>T	p.Glu1144Ter	p.E1144*	ENST00000508053		1144	Gaa/Taa	0																																																																																																																																																																																																																																												
FBN3	84467	broad.mit.edu	GRCh37	19	8162272	8162272	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01	TCGA-06-0174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000600128.1:c.5188G>A	p.Ala1730Thr	p.A1730T	ENST00000600128		1730	Gcc/Acc	0			1			T	A/T	uc002mjf.2	protein_coding		CCDS12196.1			5188/8430									ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11	c.(5188-5190)GCC>ACC			PROSITE_profiles:PS50026,hmmpanther:PTHR24039:SF0,hmmpanther:PTHR24039,PROSITE_patterns:PS01187,Gene3D:3.90.290.10,Pfam_domain:PF07645,SMART_domains:SM00181,PIRSF_domain:PIRSF036312,SMART_domains:SM00179,Superfamily_domains:SSF57184	fibrillin 3 precursor				ENSP00000270509		41/63	8.24E-06								rs766350503,COSM3404800	41/63	.		ENST00000270509	Transcript				proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	ENSG00000142449	g.chr19:8162272C>T	18794			MODERATE		-0.555	neutral	getma.org/?cm=msa&ty=f&p=FBN3_HUMAN&rb=1721&re=1761&var=A1730T	getma.org/pdb.php?prot=FBN3_HUMAN&from=1721&to=1761&var=A1730T	getma.org/?cm=var&var=hg19,19,8162272,C,T&fts=all	A1730T	--	--	1																																			0,1			benign(0.045)	p.A1730T	NM_032447	NP_115823		tolerated(0.18)	0,1	FBN3_HUMAN	FBN3	HGNC	Q75N90	FBN3_HUMAN					41	5209	-			UPI000013D88F	1730			EGF-like 26; calcium-binding.		SNV	FBN3,missense_variant,p.Ala1730Thr,ENST00000600128,;FBN3,missense_variant,p.Ala1730Thr,ENST00000270509,NM_032447.3;FBN3,missense_variant,p.Ala1730Thr,ENST00000601739,;FBN3,intron_variant,,ENST00000602121,;	uc002mjf.2	c.5188G>A	5474/9232	2	2			c.5188G>A						19	SNP	c.(5188-5190)GCC>ACC	42	42			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11	Broad	fibrillin 3 precursor			8162272		0.597	ENSG00000142449	5602	g.chr19:8162272C>T		proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent							6.077594	KEEP	5	2	-1	42	21	5	2	-1	15.501428	42	21	0.111111	1	0	0	0	0	1	0	0	0	--	--		0	T				37	GBM-06-0174-TP	p.A1730T	C	GCACAGATGGCGGGGATCTCC	NM_032447	NP_115823	8162272	Q75N90	FBN3_HUMAN	0			41	5209	-	T	T			Missense_Mutation	1730			EGF-like 26; calcium-binding.			
FBN3	0	broad.mit.edu	GRCh37	19	8190851	8190851	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01	TCGA-19-2619-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000270509.2:c.2656G>A	p.Val886Ile	p.V886I	ENST00000270509	NM_032447.3	886	Gtc/Atc	0			1			T	V/I	uc002mjf.2	protein_coding		CCDS12196.1			2656/8430									ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11	c.(2656-2658)GTC>ATC			PROSITE_profiles:PS50026,hmmpanther:PTHR24039:SF0,hmmpanther:PTHR24039,PROSITE_patterns:PS00010,PROSITE_patterns:PS01187,Pfam_domain:PF07645,Gene3D:2.10.25.10,SMART_domains:SM00181,PIRSF_domain:PIRSF036312,SMART_domains:SM00179,Superfamily_domains:SSF57581	fibrillin 3 precursor				ENSP00000270509		21/63	4.12E-05			0.000116		3.02E-05		0.000121	rs758594630,COSM2156188	21/63	.		ENST00000270509	Transcript				proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	ENSG00000142449	g.chr19:8190851C>T	18794			MODERATE		0.28	neutral	getma.org/?cm=msa&ty=f&p=FBN3_HUMAN&rb=869&re=909&var=V886I	getma.org/pdb.php?prot=FBN3_HUMAN&from=869&to=909&var=V886I	getma.org/?cm=var&var=hg19,19,8190851,C,T&fts=all	V886I	--	--	1																																			0,1			benign(0.003)	p.V886I	NM_032447	NP_115823		tolerated(0.2)	0,1	FBN3_HUMAN	FBN3	HGNC	Q75N90	FBN3_HUMAN					21	2677	-			UPI000013D88F	886			EGF-like 11; calcium-binding.		SNV	FBN3,missense_variant,p.Val886Ile,ENST00000600128,;FBN3,missense_variant,p.Val886Ile,ENST00000270509,NM_032447.3;FBN3,missense_variant,p.Val886Ile,ENST00000601739,;	uc002mjf.2	c.2656G>A	2942/9232	1	1			c.2656G>A						19	SNP	c.(2656-2658)GTC>ATC	11	11			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11	Broad	fibrillin 3 precursor			8190851		0.637	ENSG00000142449	5602	g.chr19:8190851C>T		proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent							76.06179	KEEP	18	10	-1	19	21	18	10	-1	76.73201	19	21	0.390625	1	0	0	0	0	1	0	0	0	--	--		0	T				161	GBM-19-2619-TP	p.V886I	C	GCAGTGTTGACGCAACGCCCG	NM_032447	NP_115823	8190851	Q75N90	FBN3_HUMAN	0			21	2677	-	T	T			Missense_Mutation	886			EGF-like 11; calcium-binding.			
FBN3	0	broad.mit.edu	GRCh37	19	8160957	8160957	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2623-01	TCGA-19-2623-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000270509.2:c.5547C>T	p.Asp1849=	p.D1849=	ENST00000270509	NM_032447.3	1849	gaC/gaT	0		A:0	1	A:0		A	D	uc002mjf.2	protein_coding		CCDS12196.1			5547/8430									ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11	c.(5545-5547)GAC>GAT			PROSITE_profiles:PS50026,hmmpanther:PTHR24039:SF0,hmmpanther:PTHR24039,PROSITE_patterns:PS01187,Gene3D:2.10.25.10,Pfam_domain:PF07645,PIRSF_domain:PIRSF036312,SMART_domains:SM00179,Superfamily_domains:SSF57184	fibrillin 3 precursor		A:0		ENSP00000270509	A:0.001	44/63	0.000165	9.61E-05		0.000116		8.99E-05		0.000727	rs201513367,COSM3404799	44/63	common_variant		ENST00000270509	Transcript		A:0.0004		proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	ENSG00000142449	g.chr19:8160957G>A	18794			LOW								--	--	1																																			0,1				p.D1849D	NM_032447	NP_115823	A:0.001		0,1	FBN3_HUMAN	FBN3	HGNC	Q75N90	FBN3_HUMAN					44	5568	-			UPI000013D88F	1849			EGF-like 29; calcium-binding.		SNV	FBN3,synonymous_variant,p.=,ENST00000600128,;FBN3,synonymous_variant,p.=,ENST00000270509,NM_032447.3;FBN3,synonymous_variant,p.=,ENST00000601739,;FBN3,synonymous_variant,p.=,ENST00000602121,;	uc002mjf.2	c.5547C>T	5833/9232	2	2			c.5547C>T						19	SNP	c.(5545-5547)GAC>GAT	47	47			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11	Broad	fibrillin 3 precursor			8160957		0.582	ENSG00000142449	5602	g.chr19:8160957G>A		proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent							88.144781	KEEP	16	21	-1	50	34	16	21	-1	91.869166	50	34	0.301887	1	0	0	0	0	0	0	1	0	--	--		0	A				163	GBM-19-2623-TP	p.D1849D	G	GGTCACACTCGTCAATGTCTG	NM_032447	NP_115823	8160957	Q75N90	FBN3_HUMAN	0			44	5568	-	A	A			Silent	1849			EGF-like 29; calcium-binding.			
FBN3	0	broad.mit.edu	GRCh37	19	8191373	8191373	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-27-1838-01	TCGA-27-1838-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000270509.2:c.2533C>G	p.Pro845Ala	p.P845A	ENST00000270509	NM_032447.3	845	Ccc/Gcc	0			1			C	P/A	uc002mjf.2	protein_coding		CCDS12196.1			2533/8430									ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11	c.(2533-2535)CCC>GCC			PROSITE_profiles:PS51364,hmmpanther:PTHR24039:SF0,hmmpanther:PTHR24039,Gene3D:3.90.290.10,Pfam_domain:PF00683,PIRSF_domain:PIRSF036312,Superfamily_domains:SSF57581	fibrillin 3 precursor				ENSP00000270509		19/63									COSM3404804	19/63	.		ENST00000270509	Transcript				proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	ENSG00000142449	g.chr19:8191373G>C	18794			MODERATE		2.635	medium	getma.org/?cm=msa&ty=f&p=FBN3_HUMAN&rb=819&re=859&var=P845A	getma.org/pdb.php?prot=FBN3_HUMAN&from=819&to=859&var=P845A	getma.org/?cm=var&var=hg19,19,8191373,G,C&fts=all	P845A	--	--	1																																			1			benign(0.26)	p.P845A	NM_032447	NP_115823		deleterious(0.01)	1	FBN3_HUMAN	FBN3	HGNC	Q75N90	FBN3_HUMAN					19	2554	-			UPI000013D88F	845			TB 4.		SNV	FBN3,missense_variant,p.Pro845Ala,ENST00000600128,;FBN3,missense_variant,p.Pro845Ala,ENST00000270509,NM_032447.3;FBN3,missense_variant,p.Pro845Ala,ENST00000601739,;	uc002mjf.2	c.2533C>G	2819/9232	4	4			c.2533C>G						19	SNP	c.(2533-2535)CCC>GCC	33	33			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11	Broad	fibrillin 3 precursor			8191373		0.667	ENSG00000142449	5602	g.chr19:8191373G>C		proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent							48.611518	KEEP	7	9	-1	13	13	7	9	-1	48.981566	13	13	0.394737	1	0	0	0	0	1	0	0	0	--	--		0	C				197	GBM-27-1838-TP	p.P845A	G	CGTTCGCAGGGGCTCCCCCAG	NM_032447	NP_115823	8191373	Q75N90	FBN3_HUMAN	0			19	2554	-	C	C			Missense_Mutation	845			TB 4.			
FBN3	0	broad.mit.edu	GRCh37	19	8190851	8190851	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01	TCGA-28-2513-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000270509.2:c.2656G>A	p.Val886Ile	p.V886I	ENST00000270509	NM_032447.3	886	Gtc/Atc	0			1			T	V/I	uc002mjf.2	protein_coding		CCDS12196.1			2656/8430									ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11	c.(2656-2658)GTC>ATC			PROSITE_profiles:PS50026,hmmpanther:PTHR24039:SF0,hmmpanther:PTHR24039,PROSITE_patterns:PS00010,PROSITE_patterns:PS01187,Pfam_domain:PF07645,Gene3D:2.10.25.10,SMART_domains:SM00181,PIRSF_domain:PIRSF036312,SMART_domains:SM00179,Superfamily_domains:SSF57581	fibrillin 3 precursor				ENSP00000270509		21/63	4.12E-05			0.000116		3.02E-05		0.000121	rs758594630,COSM2156188	21/63	.		ENST00000270509	Transcript				proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	ENSG00000142449	g.chr19:8190851C>T	18794			MODERATE		0.28	neutral	getma.org/?cm=msa&ty=f&p=FBN3_HUMAN&rb=869&re=909&var=V886I	getma.org/pdb.php?prot=FBN3_HUMAN&from=869&to=909&var=V886I	getma.org/?cm=var&var=hg19,19,8190851,C,T&fts=all	V886I	--	--	1																																			0,1			benign(0.003)	p.V886I	NM_032447	NP_115823		tolerated(0.2)	0,1	FBN3_HUMAN	FBN3	HGNC	Q75N90	FBN3_HUMAN					21	2677	-			UPI000013D88F	886			EGF-like 11; calcium-binding.		SNV	FBN3,missense_variant,p.Val886Ile,ENST00000600128,;FBN3,missense_variant,p.Val886Ile,ENST00000270509,NM_032447.3;FBN3,missense_variant,p.Val886Ile,ENST00000601739,;	uc002mjf.2	c.2656G>A	2942/9232	1	1			c.2656G>A						19	SNP	c.(2656-2658)GTC>ATC	11	11			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11	Broad	fibrillin 3 precursor			8190851		0.637	ENSG00000142449	5602	g.chr19:8190851C>T		proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent							-4.068334	KEEP	5	6	-1	65	56	5	6	-1	17.64616	65	56	0.070175	1	0	0	0	0	1	0	0	0	--	--		0	T				213	GBM-28-2513-TP	p.V886I	C	GCAGTGTTGACGCAACGCCCG	NM_032447	NP_115823	8190851	Q75N90	FBN3_HUMAN	0			21	2677	-	T	T			Missense_Mutation	886			EGF-like 11; calcium-binding.			
FBN3	0	broad.mit.edu	GRCh37	19	8176555	8176555	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5220-01	TCGA-28-5220-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000270509.2:c.4061C>T	p.Ala1354Val	p.A1354V	ENST00000270509	NM_032447.3	1354	gCc/gTc	0			1			A	A/V	uc002mjf.2	protein_coding		CCDS12196.1			4061/8430									ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11	c.(4060-4062)GCC>GTC			PROSITE_profiles:PS50026,hmmpanther:PTHR24039:SF0,hmmpanther:PTHR24039,PROSITE_patterns:PS01186,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00181,PIRSF_domain:PIRSF036312,SMART_domains:SM00179,Superfamily_domains:SSF57196	fibrillin 3 precursor				ENSP00000270509		31/63									COSM3404802	31/63	.		ENST00000270509	Transcript				proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	ENSG00000142449	g.chr19:8176555G>A	18794			MODERATE		-0.185	neutral	getma.org/?cm=msa&ty=f&p=FBN3_HUMAN&rb=1321&re=1360&var=A1354V	NA	getma.org/?cm=var&var=hg19,19,8176555,G,A&fts=all	A1354V	--	--	1																																			1			benign(0.001)	p.A1354V	NM_032447	NP_115823		tolerated(0.19)	1	FBN3_HUMAN	FBN3	HGNC	Q75N90	FBN3_HUMAN					31	4082	-			UPI000013D88F	1354			EGF-like 20; calcium-binding.		SNV	FBN3,missense_variant,p.Ala1354Val,ENST00000600128,;FBN3,missense_variant,p.Ala1354Val,ENST00000270509,NM_032447.3;FBN3,missense_variant,p.Ala1354Val,ENST00000601739,;FBN3,non_coding_transcript_exon_variant,,ENST00000594331,;	uc002mjf.2	c.4061C>T	4347/9232	2	2			c.4061C>T						19	SNP	c.(4060-4062)GCC>GTC	30	30			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11	Broad	fibrillin 3 precursor			8176555		0.637	ENSG00000142449	5602	g.chr19:8176555G>A		proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent							-7.020523	KEEP	1	3	-1	42	52	1	3	-1	6.418221	42	52	0.048387	1	0	0	0	0	1	0	0	0	--	--		0	A				226	GBM-28-5220-TP	p.A1354V	G	GCCATCCCCGGCAAAGCCCTG	NM_032447	NP_115823	8176555	Q75N90	FBN3_HUMAN	0			31	4082	-	A	A			Missense_Mutation	1354			EGF-like 20; calcium-binding.			
FBN3	0	broad.mit.edu	GRCh37	19	8176044	8176044	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs117092804	by1000genomes	TCGA-32-2495-01	TCGA-32-2495-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000270509.2:c.4108G>A	p.Val1370Met	p.V1370M	ENST00000270509	NM_032447.3	1370	Gtg/Atg	0		T:0	1	T:0		T	V/M	uc002mjf.2	protein_coding		CCDS12196.1			4108/8430									ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11	c.(4108-4110)GTG>ATG			PROSITE_profiles:PS50026,hmmpanther:PTHR24039:SF0,hmmpanther:PTHR24039,PROSITE_patterns:PS01187,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00181,PIRSF_domain:PIRSF036312,SMART_domains:SM00179,Superfamily_domains:SSF57184	fibrillin 3 precursor		T:0.0159		ENSP00000270509	T:0	32/63	0.00166		0.000174	0.0216			0.0012	0.000995	rs117092804,COSM3404801	32/63	common_variant		ENST00000270509	Transcript		T:0.0036		proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	ENSG00000142449	g.chr19:8176044C>T	18794			MODERATE		0.235	neutral	getma.org/?cm=msa&ty=f&p=FBN3_HUMAN&rb=1362&re=1402&var=V1370M	getma.org/pdb.php?prot=FBN3_HUMAN&from=1362&to=1402&var=V1370M	getma.org/?cm=var&var=hg19,19,8176044,C,T&fts=all	V1370M	--	--	1																																			0,1			benign(0.152)	p.V1370M	NM_032447	NP_115823	T:0.002	tolerated(0.13)	0,1	FBN3_HUMAN	FBN3	HGNC	Q75N90	FBN3_HUMAN					32	4129	-			UPI000013D88F	1370			EGF-like 21; calcium-binding.		SNV	FBN3,missense_variant,p.Val1370Met,ENST00000600128,;FBN3,missense_variant,p.Val1370Met,ENST00000270509,NM_032447.3;FBN3,missense_variant,p.Val1370Met,ENST00000601739,;FBN3,non_coding_transcript_exon_variant,,ENST00000594331,;	uc002mjf.2	c.4108G>A	4394/9232	2	2			c.4108G>A						19	SNP	c.(4108-4110)GTG>ATG	44	44			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11	Broad	fibrillin 3 precursor			8176044		0.657	ENSG00000142449	5602	g.chr19:8176044C>T		proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent							-16.158461	KEEP	2	4	-1	51	59	2	4	-1	6.938147	51	59	0.03125	1	0	0	0	0	1	0	0	0	--	--		0	T				237	GBM-32-2495-TP	p.V1370M	C	CAGAGGTCCACGTTCTCGGCA	NM_032447	NP_115823	8176044	Q75N90	FBN3_HUMAN	0			32	4129	-	T	T			Missense_Mutation	1370			EGF-like 21; calcium-binding.			
FBN3	0	broad.mit.edu	GRCh37	19	8200953	8200953	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-4210-01	TCGA-32-4210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000270509.2:c.1483G>C	p.Val495Leu	p.V495L	ENST00000270509	NM_032447.3	495	Gtc/Ctc	0			1			G	V/L	uc002mjf.2	protein_coding		CCDS12196.1			1483/8430									ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11	c.(1483-1485)GTC>CTC			PROSITE_profiles:PS50026,hmmpanther:PTHR24039:SF0,hmmpanther:PTHR24039,PROSITE_patterns:PS01187,Pfam_domain:PF07645,Gene3D:2.10.25.10,SMART_domains:SM00181,PIRSF_domain:PIRSF036312,SMART_domains:SM00179,Superfamily_domains:SSF57184,Superfamily_domains:SSF57196	fibrillin 3 precursor				ENSP00000270509		Dec-63									COSM3404805	Dec-63	.		ENST00000270509	Transcript				proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	ENSG00000142449	g.chr19:8200953C>G	18794			MODERATE		-0.34	neutral	getma.org/?cm=msa&ty=f&p=FBN3_HUMAN&rb=489&re=529&var=V495L	getma.org/pdb.php?prot=FBN3_HUMAN&from=489&to=529&var=V495L	getma.org/?cm=var&var=hg19,19,8200953,C,G&fts=all	V495L	--	--	1																																			1			benign(0.02)	p.V495L	NM_032447	NP_115823		tolerated(0.57)	1	FBN3_HUMAN	FBN3	HGNC	Q75N90	FBN3_HUMAN					12	1504	-			UPI000013D88F	495			EGF-like 5; calcium-binding.		SNV	FBN3,missense_variant,p.Val495Leu,ENST00000600128,;FBN3,missense_variant,p.Val495Leu,ENST00000270509,NM_032447.3;FBN3,missense_variant,p.Val495Leu,ENST00000601739,;	uc002mjf.2	c.1483G>C	1769/9232	3	3			c.1483G>C						19	SNP	c.(1483-1485)GTC>CTC	15	15			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11	Broad	fibrillin 3 precursor			8200953		0.612	ENSG00000142449	5602	g.chr19:8200953C>G		proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent							-3.282251	KEEP	0	2	-1	24	25	0	2	-1	6.421519	24	25	0.045455	1	0	0	0	0	1	0	0	0	--	--		0	G				245	GBM-32-4210-TP	p.V495L	C	CCACCACTGACAATGCACTCG	NM_032447	NP_115823	8200953	Q75N90	FBN3_HUMAN	0			12	1504	-	G	G			Missense_Mutation	495			EGF-like 5; calcium-binding.			
FBN3	0	broad.mit.edu	GRCh37	19	8130913	8130913	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-81-5910-01	TCGA-81-5910-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000270509.2:c.8320C>T	p.Arg2774Trp	p.R2774W	ENST00000270509	NM_032447.3	2774	Cgg/Tgg	0		A:0	1	A:0		A	R/W	uc002mjf.2	protein_coding		CCDS12196.1			8320/8430									ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11	c.(8320-8322)CGG>TGG			hmmpanther:PTHR24039:SF0,hmmpanther:PTHR24039,PIRSF_domain:PIRSF036312	fibrillin 3 precursor		A:0.002		ENSP00000270509	A:0	63/63	0.000165			0.000469		6.24E-05		0.000728	rs200422303,COSM3404797	63/63	common_variant		ENST00000270509	Transcript		A:0.0006		proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	ENSG00000142449	g.chr19:8130913G>A	18794			MODERATE		1.24	low	getma.org/?cm=msa&ty=f&p=FBN3_HUMAN&rb=2649&re=2809&var=R2774W	NA	getma.org/?cm=var&var=hg19,19,8130913,G,A&fts=all	R2774W	--	--	1																																		FBN3_uc002mje.2_Missense_Mutation_p.R570W	0,1			benign(0.001)	p.R2774W	NM_032447	NP_115823	A:0.001	tolerated(0.19)	0,1	FBN3_HUMAN	FBN3	HGNC	Q75N90	FBN3_HUMAN					63	8341	-			UPI000013D88F	2774					SNV	FBN3,missense_variant,p.Arg2774Trp,ENST00000600128,;FBN3,missense_variant,p.Arg2774Trp,ENST00000270509,NM_032447.3;FBN3,missense_variant,p.Arg2774Trp,ENST00000601739,;CCL25,downstream_gene_variant,,ENST00000253451,NM_001201359.1,NM_005624.3;CCL25,downstream_gene_variant,,ENST00000390669,;CCL25,downstream_gene_variant,,ENST00000458625,;	uc002mjf.2	c.8320C>T	8606/9232	2	2			c.8320C>T						19	SNP	c.(8320-8322)CGG>TGG	25	25			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11	Broad	fibrillin 3 precursor			8130913		0.677	ENSG00000142449	5602	g.chr19:8130913G>A		proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent							98.560732	KEEP	17	20	-1	12	11	17	20	-1	99.500387	12	11	0.652174	1	0	0	0	0	1	0	0	0	--	--		0	A			FBN3_uc002mje.2_Missense_Mutation_p.R570W	289	GBM-81-5910-TP	p.R2774W	G	ACCTCCAGCCGGTAGGTTCCA	NM_032447	NP_115823	8130913	Q75N90	FBN3_HUMAN	0			63	8341	-	A	A			Missense_Mutation	2774						
FBN3	84467		GRCh37	19	8148157	8148157	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000600128.1:c.7187C>A	p.Pro2396Gln	p.P2396Q	ENST00000600128		2396	cCg/cAg	0																																																																																																																																																																																																																																												
FBN3	84467		GRCh37	19	8183822	8183822	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000600128.1:c.3296C>T	p.Pro1099Leu	p.P1099L	ENST00000600128		1099	cCc/cTc	0																																																																																																																																																																																																																																												
FBP1	2203	broad.mit.edu	GRCh37	9	97380089	97380089	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0195-01	TCGA-06-0195-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000415431.1:c.387C>T	p.Cys129=	p.C129=	ENST00000415431	NM_001127628.1	129	tgC/tgT	0			1			A	C	uc004auw.3	protein_coding		CCDS6712.1			387/1017										0	c.(385-387)TGC>TGT			Superfamily_domains:SSF56655,PIRSF_domain:PIRSF000904,PIRSF_domain:PIRSF500210,Pfam_domain:PF00316,Gene3D:3.30.540.10,hmmpanther:PTHR11556:SF11,hmmpanther:PTHR11556,HAMAP:MF_01855	fructose-1,6-bisphosphatase 1	Adenosine monophosphate(DB00131)			ENSP00000364475		7-Mar									COSM3413854	7-Mar	.		ENST00000375326	Transcript	1		gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding	ENSG00000165140	g.chr9:97380089G>A	3606			LOW								--	--	1																																		FBP1_uc010mrl.2_Silent_p.C129C	1				p.C129C	NM_000507	NP_000498			1	F16P1_HUMAN	FBP1	HGNC	P09467	F16P1_HUMAN			Q5VZC3_HUMAN,A8QID0_HUMAN		3	718	-		Acute lymphoblastic leukemia(62;0.136)	UPI0000070F7C	129					SNV	FBP1,synonymous_variant,p.=,ENST00000415431,NM_001127628.1;FBP1,synonymous_variant,p.=,ENST00000375326,NM_000507.3;FBP1,synonymous_variant,p.=,ENST00000414122,;	uc004auw.3	c.387C>T	584/1462	2	2			c.387C>T						9	SNP	c.(385-387)TGC>TGT	28	28				0	Broad	fructose-1,6-bisphosphatase 1		Adenosine monophosphate(DB00131)	97380089		0.388	ENSG00000165140	5603	g.chr9:97380089G>A	gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding	Ovarian(142;590 2466 25593 44496)			Ovarian(142;590 2466 25593 44496)			102.023198	KEEP	19	21	-1	35	34	19	21	-1	103.50167	35	34	0.365591	1	0	0	0	0	0	0	1	0	--	--		0	A			FBP1_uc010mrl.2_Silent_p.C129C	45	GBM-06-0195-TP	p.C129C	G	CGGACACAAGGCAATCGATGT	NM_000507	NP_000498	97380089	P09467	F16P1_HUMAN	0			3	718	-	A	A		Acute lymphoblastic leukemia(62;0.136)	Silent	129						
FBP1	0	broad.mit.edu	GRCh37	9	97401548	97401548	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-19-5960-01	TCGA-19-5960-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375326.4:c.45C>G	p.Thr15=	p.T15=	ENST00000375326	NM_000507.3	15	acC/acG	0			1			C	T	uc004auw.3	protein_coding		CCDS6712.1			45/1017										0	c.(43-45)ACC>ACG			Superfamily_domains:SSF56655,PIRSF_domain:PIRSF000904,PIRSF_domain:PIRSF500210,Pfam_domain:PF00316,Gene3D:3.30.540.10,hmmpanther:PTHR11556:SF11,hmmpanther:PTHR11556,HAMAP:MF_01855	fructose-1,6-bisphosphatase 1	Adenosine monophosphate(DB00131)			ENSP00000364475		7-Jan									COSM3413855	7-Jan	.		ENST00000375326	Transcript	1		gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding	ENSG00000165140	g.chr9:97401548G>C	3606			LOW								--	--	1																																		FBP1_uc010mrl.2_Silent_p.T15T	1				p.T15T	NM_000507	NP_000498			1	F16P1_HUMAN	FBP1	HGNC	P09467	F16P1_HUMAN			Q5VZC3_HUMAN,A8QID0_HUMAN		1	376	-		Acute lymphoblastic leukemia(62;0.136)	UPI0000070F7C	15					SNV	FBP1,synonymous_variant,p.=,ENST00000415431,NM_001127628.1;FBP1,synonymous_variant,p.=,ENST00000375326,NM_000507.3;FBP1,intron_variant,,ENST00000414122,;	uc004auw.3	c.45C>G	242/1462	3	3			c.45C>G						9	SNP	c.(43-45)ACC>ACG	63	63				0	Broad	fructose-1,6-bisphosphatase 1		Adenosine monophosphate(DB00131)	97401548		0.667	ENSG00000165140	5603	g.chr9:97401548G>C	gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding	Ovarian(142;590 2466 25593 44496)			Ovarian(142;590 2466 25593 44496)			11.62391	KEEP	3	2	-1	3	3	3	2	-1	11.70289	3	3	0.4	1	0	0	0	0	0	0	1	0	--	--		0	C			FBP1_uc010mrl.2_Silent_p.T15T	178	GBM-19-5960-TP	p.T15T	G	TGACGAAGCGGGTCAGGGTGT	NM_000507	NP_000498	97401548	P09467	F16P1_HUMAN	0			1	376	-	C	C		Acute lymphoblastic leukemia(62;0.136)	Silent	15						
FBP1	0	broad.mit.edu	GRCh37	9	97367792	97367792	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-4928-01	TCGA-76-4928-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375326.4:c.772G>T	p.Val258Phe	p.V258F	ENST00000375326	NM_000507.3	258	Gtc/Ttc	0			1			A	V/F	uc004auw.3	protein_coding		CCDS6712.1			772/1017										0	c.(772-774)GTC>TTC			Superfamily_domains:SSF56655,PIRSF_domain:PIRSF000904,PIRSF_domain:PIRSF500210,Pfam_domain:PF00316,Gene3D:3.40.190.80,hmmpanther:PTHR11556:SF11,hmmpanther:PTHR11556,HAMAP:MF_01855	fructose-1,6-bisphosphatase 1	Adenosine monophosphate(DB00131)			ENSP00000364475		7-Jun									COSM3413852	7-Jun	.		ENST00000375326	Transcript	1		gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding	ENSG00000165140	g.chr9:97367792C>A	3606			MODERATE		2.375	medium	getma.org/?cm=msa&ty=f&p=F16P1_HUMAN&rb=12&re=335&var=V258F	getma.org/pdb.php?prot=F16P1_HUMAN&from=12&to=335&var=V258F	getma.org/?cm=var&var=hg19,9,97367792,C,A&fts=all	V258F	--	--	1																																		FBP1_uc010mrl.2_Missense_Mutation_p.V258F	1			benign(0.064)	p.V258F	NM_000507	NP_000498		deleterious(0.02)	1	F16P1_HUMAN	FBP1	HGNC	P09467	F16P1_HUMAN			Q5VZC3_HUMAN,A8QID0_HUMAN		6	1103	-		Acute lymphoblastic leukemia(62;0.136)	UPI0000070F7C	258					SNV	FBP1,missense_variant,p.Val258Phe,ENST00000415431,NM_001127628.1;FBP1,missense_variant,p.Val258Phe,ENST00000375326,NM_000507.3;FBP1,downstream_gene_variant,,ENST00000414122,;	uc004auw.3	c.772G>T	969/1462	2	2			c.772G>T						9	SNP	c.(772-774)GTC>TTC	33	33				0	Broad	fructose-1,6-bisphosphatase 1		Adenosine monophosphate(DB00131)	97367792		0.408	ENSG00000165140	5603	g.chr9:97367792C>A	gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding	Ovarian(142;590 2466 25593 44496)			Ovarian(142;590 2466 25593 44496)			42.072974	KEEP	10	10	0.5	41	38	10	10	0.5	48.826151	41	38	0.213483	1	0	0	0	0	1	0	0	0	--	--		0	A			FBP1_uc010mrl.2_Missense_Mutation_p.V258F	268	GBM-76-4928-TP	p.V258F	C	CCTCCGTAGACCAGAGTGCGA	NM_000507	NP_000498	97367792	P09467	F16P1_HUMAN	0			6	1103	-	A	A		Acute lymphoblastic leukemia(62;0.136)	Missense_Mutation	258						
FBP2	0	broad.mit.edu	GRCh37	9	97329591	97329591	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5950-01	TCGA-19-5950-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375337.3:c.666G>A	p.Ala222=	p.A222=	ENST00000375337	NM_003837.2	222	gcG/gcA	0	T:0.0002		1			T	A	uc004auv.2	protein_coding	YES	CCDS6711.1			666/1020										0	c.(664-666)GCG>GCA			Prints_domain:PR00115,Superfamily_domains:SSF56655,PIRSF_domain:PIRSF000904,PIRSF_domain:PIRSF500210,Pfam_domain:PF00316,Gene3D:3.40.190.80,hmmpanther:PTHR11556:SF13,hmmpanther:PTHR11556,HAMAP:MF_01855	fructose-1,6-bisphosphatase 2			T:0	ENSP00000364486		7-May	9.88E-05	9.61E-05		0.000693		7.49E-05			rs367608023,COSM2156532	7-May	common_variant		ENST00000375337	Transcript			fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding	ENSG00000130957	g.chr9:97329591C>T	3607			LOW								--	--	1																																		uc004aus.1_Intron|uc004aut.1_Intron|uc004auu.2_Intron	0,1	1			p.A222A	NM_003837	NP_003828			0,1	F16P2_HUMAN	FBP2	HGNC	O00757	F16P2_HUMAN					5	733	-		Acute lymphoblastic leukemia(62;0.136)	UPI000013CDC2	222					SNV	FBP2,synonymous_variant,p.=,ENST00000375337,NM_003837.2;PCAT7,intron_variant,,ENST00000452148,;	uc004auv.2	c.666G>A	733/1305	1	1			c.666G>A						9	SNP	c.(664-666)GCG>GCA	2	2				0	Broad	fructose-1,6-bisphosphatase 2			97329591		0.463	ENSG00000130957	5604	g.chr9:97329591C>T	fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding							267.559765	KEEP	43	44	-1	43	49	43	44	-1	267.571729	43	49	0.491228	1	0	0	0	0	0	0	1	0	--	--		0	T			uc004aus.1_Intron|uc004aut.1_Intron|uc004auu.2_Intron	170	GBM-19-5950-TP	p.A222A	C	CAGTGGTGGCCGCATCAAAAT	NM_003837	NP_003828	97329591	O00757	F16P2_HUMAN	0			5	733	-	T	T		Acute lymphoblastic leukemia(62;0.136)	Silent	222						
FBXL12	0	broad.mit.edu	GRCh37	19	9922084	9922084	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs61753275		TCGA-19-2631-01	TCGA-19-2631-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000247977.4:c.469G>A	p.Val157Met	p.V157M	ENST00000247977	NM_017703.1	157	Gtg/Atg	0	T:0	T:0	1	T:0		T	V/M	uc002mme.2	protein_coding	YES	CCDS12218.1			469/981									lung(1)|kidney(1)	2	c.(469-471)GTG>ATG			hmmpanther:PTHR23125:SF265,hmmpanther:PTHR23125,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	F-box and leucine-rich repeat protein 12		T:0.001	T:0.0007	ENSP00000247977	T:0	3-Mar	0.00042	0.0002			0.00106	0.000631			rs61753275,COSM2156438	3-Mar	common_variant		ENST00000247977	Transcript		T:0.0002			protein binding	ENSG00000127452	g.chr19:9922084C>T	13611			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=FXL12_HUMAN&rb=51&re=250&var=V157M	NA	getma.org/?cm=var&var=hg19,19,9922084,C,T&fts=all	V157M	--	--	1																																		FBXL12_uc002mmd.2_Missense_Mutation_p.V104M|FBXL12_uc002mmf.2_Missense_Mutation_p.V104M|FBXL12_uc002mmg.2_Missense_Mutation_p.V104M|FBXL12_uc002mmh.2_Missense_Mutation_p.V104M	0,1	1		benign(0.31)	p.V157M	NM_017703	NP_060173	T:0	tolerated(0.12)	0,1	FXL12_HUMAN	FBXL12	HGNC	Q9NXK8	FXL12_HUMAN			K7EPN7_HUMAN,K7ELM5_HUMAN		3	711	-			UPI000006EBD0	157					SNV	FBXL12,missense_variant,p.Val157Met,ENST00000247977,NM_017703.1;FBXL12,missense_variant,p.Val104Met,ENST00000591009,;FBXL12,missense_variant,p.Val104Met,ENST00000585379,;FBXL12,3_prime_UTR_variant,,ENST00000589626,;FBXL12,3_prime_UTR_variant,,ENST00000588922,;FBXL12,3_prime_UTR_variant,,ENST00000586651,;FBXL12,3_prime_UTR_variant,,ENST00000592067,;FBXL12,downstream_gene_variant,,ENST00000590277,;FBXL12,downstream_gene_variant,,ENST00000586469,;FBXL12,3_prime_UTR_variant,,ENST00000589438,;FBXL12,3_prime_UTR_variant,,ENST00000592732,;FBXL12,3_prime_UTR_variant,,ENST00000590808,;	uc002mme.2	c.469G>A	711/1852	2	2			c.469G>A						19	SNP	c.(469-471)GTG>ATG	24	24			lung(1)|kidney(1)	2	Broad	F-box and leucine-rich repeat protein 12			9922084		0.667	ENSG00000127452	5606	g.chr19:9922084C>T			protein binding							136.946337	KEEP	30	24	-1	40	48	30	24	-1	138.967296	40	48	0.368421	1	0	0	0	0	1	0	0	0	--	--		0	T			FBXL12_uc002mmd.2_Missense_Mutation_p.V104M|FBXL12_uc002mmf.2_Missense_Mutation_p.V104M|FBXL12_uc002mmg.2_Missense_Mutation_p.V104M|FBXL12_uc002mmh.2_Missense_Mutation_p.V104M	167	GBM-19-2631-TP	p.V157M	C	CGGTCCAGCACGATGCATTCA	NM_017703	NP_060173	9922084	Q9NXK8	FXL12_HUMAN	0			3	711	-	T	T			Missense_Mutation	157						
FBXL12	0	broad.mit.edu	GRCh37	19	9929295	9929296	+	splice_region_variant,intron_variant	Splice_Region	INS	-	-	G			TCGA-28-5213-01	TCGA-28-5213-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000247977.4:c.87-3dupC		p.X29_splice	ENST00000247977	NM_017703.1			0	G:0.0002		1			G		uc002mme.2	protein_coding	YES	CCDS12218.1			-/981									lung(1)|kidney(1)	2	c.e2-1				F-box and leucine-rich repeat protein 12			G:0.0008	ENSP00000247977			3.61E-05					0.000349			rs755076057		.		ENST00000247977	Transcript					protein binding	ENSG00000127452	g.chr19:9929295_9929296insG	13611			LOW	2-Jan							--	--	1																																		FBXL12_uc002mmd.2_5'UTR|FBXL12_uc002mmf.2_Splice_Site|FBXL12_uc002mmg.2_Splice_Site|FBXL12_uc002mmh.2_Splice_Site		1			p.R29_splice	NM_017703	NP_060173				FXL12_HUMAN	FBXL12	HGNC	Q9NXK8	FXL12_HUMAN			K7EPN7_HUMAN,K7ELM5_HUMAN		2	329	-			UPI000006EBD0						insertion	FBXL12,frameshift_variant,p.Gly66ArgfsTer299,ENST00000586651,;FBXL12,splice_region_variant,,ENST00000589626,;FBXL12,splice_region_variant,,ENST00000247977,NM_017703.1;FBXL12,splice_region_variant,,ENST00000588922,;FBXL12,splice_region_variant,,ENST00000585379,;FBXL12,splice_region_variant,,ENST00000592067,;FBXL12,splice_region_variant,,ENST00000586073,;FBXL12,splice_region_variant,,ENST00000590277,;FBXL12,intron_variant,,ENST00000586469,;SNORA70,upstream_gene_variant,,ENST00000363367,;AC008752.1,upstream_gene_variant,,ENST00000401283,;FBXL12,frameshift_variant,p.Gly66ArgfsTer40,ENST00000589438,;FBXL12,splice_region_variant,,ENST00000592732,;FBXL12,splice_region_variant,,ENST00000590808,;RPL10P15,upstream_gene_variant,,ENST00000585756,;	uc002mme.2	c.87_splice	-/1852	5	5			c.87_splice						19	INS	c.e2-1	64	64			lung(1)|kidney(1)	2	Broad	F-box and leucine-rich repeat protein 12			9929296		0.723	ENSG00000127452	5606	g.chr19:9929295_9929296insG			protein binding																				0.4	1	0	0	1	1	0	0	0	1	--	--		0	G			FBXL12_uc002mmd.2_5'UTR|FBXL12_uc002mmf.2_Splice_Site|FBXL12_uc002mmg.2_Splice_Site|FBXL12_uc002mmh.2_Splice_Site	220	GBM-28-5213-TP	p.R29_splice	-	TGACAGACCCTGGGGGAGGGGA	NM_017703	NP_060173	9929295	Q9NXK8	FXL12_HUMAN	0			2	329	-	G	G			Splice_Site							
FBXL12	0	broad.mit.edu	GRCh37	19	9921852	9921852	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-3915-01	TCGA-41-3915-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000247977.4:c.701G>A	p.Arg234Gln	p.R234Q	ENST00000247977	NM_017703.1	234	cGg/cAg	0			1			T	R/Q	uc002mme.2	protein_coding	YES	CCDS12218.1			701/981									lung(1)|kidney(1)	2	c.(700-702)CGG>CAG			hmmpanther:PTHR23125:SF265,hmmpanther:PTHR23125,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	F-box and leucine-rich repeat protein 12				ENSP00000247977		3-Mar	8.24E-06							6.18E-05	rs756143099,COSM3404922	3-Mar	.		ENST00000247977	Transcript					protein binding	ENSG00000127452	g.chr19:9921852C>T	13611			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=FXL12_HUMAN&rb=51&re=250&var=R234Q	NA	getma.org/?cm=var&var=hg19,19,9921852,C,T&fts=all	R234Q	--	--	1																																		FBXL12_uc002mmd.2_Missense_Mutation_p.R181Q|FBXL12_uc002mmf.2_Missense_Mutation_p.R181Q|FBXL12_uc002mmg.2_Missense_Mutation_p.R181Q|FBXL12_uc002mmh.2_Missense_Mutation_p.R181Q	0,1	1		benign(0.258)	p.R234Q	NM_017703	NP_060173		tolerated(0.22)	0,1	FXL12_HUMAN	FBXL12	HGNC	Q9NXK8	FXL12_HUMAN			K7EPN7_HUMAN,K7ELM5_HUMAN		3	943	-			UPI000006EBD0	234			LRR 6.		SNV	FBXL12,missense_variant,p.Arg234Gln,ENST00000247977,NM_017703.1;FBXL12,missense_variant,p.Arg181Gln,ENST00000591009,;FBXL12,missense_variant,p.Arg181Gln,ENST00000585379,;FBXL12,3_prime_UTR_variant,,ENST00000589626,;FBXL12,3_prime_UTR_variant,,ENST00000588922,;FBXL12,3_prime_UTR_variant,,ENST00000586651,;FBXL12,downstream_gene_variant,,ENST00000592067,;FBXL12,downstream_gene_variant,,ENST00000590277,;FBXL12,downstream_gene_variant,,ENST00000586469,;FBXL12,3_prime_UTR_variant,,ENST00000589438,;FBXL12,3_prime_UTR_variant,,ENST00000592732,;FBXL12,downstream_gene_variant,,ENST00000590808,;	uc002mme.2	c.701G>A	943/1852	1	1			c.701G>A						19	SNP	c.(700-702)CGG>CAG	7	7			lung(1)|kidney(1)	2	Broad	F-box and leucine-rich repeat protein 12			9921852		0.667	ENSG00000127452	5606	g.chr19:9921852C>T			protein binding							-13.538135	KEEP	2	1	-1	47	63	2	1	-1	6.399503	47	63	0.035294	1	0	0	0	0	1	0	0	0	--	--		0	T			FBXL12_uc002mmd.2_Missense_Mutation_p.R181Q|FBXL12_uc002mmf.2_Missense_Mutation_p.R181Q|FBXL12_uc002mmg.2_Missense_Mutation_p.R181Q|FBXL12_uc002mmh.2_Missense_Mutation_p.R181Q	256	GBM-41-3915-TP	p.R234Q	C	CACGGTCAGCCGGATCTTGCG	NM_017703	NP_060173	9921852	Q9NXK8	FXL12_HUMAN	0			3	943	-	T	T			Missense_Mutation	234			LRR 6.			
FBXL13	0	broad.mit.edu	GRCh37	7	102604030	102604030	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1837-01	TCGA-27-1837-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313221.4:c.674G>A	p.Arg225His	p.R225H	ENST00000313221	NM_145032.3	225	cGt/cAt	0		T:0	1	T:0		T	R/H	uc003vaq.2	protein_coding	YES	CCDS5726.1			674/2208										0	c.(673-675)CGT>CAT			hmmpanther:PTHR23125,hmmpanther:PTHR23125:SF219,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	F-box and leucine-rich repeat protein 13 isoform		T:0		ENSP00000321927	T:0.001	20-Aug	0.000156			0.000116	0.00121	0.000135	0.0011		rs180901632,COSM3411418	20-Aug	common_variant		ENST00000313221	Transcript		T:0.0002				ENSG00000161040	g.chr7:102604030C>T	21658			MODERATE		1.645	low	getma.org/?cm=msa&ty=f&p=FXL13_HUMAN&rb=201&re=243&var=R225H	NA	getma.org/?cm=var&var=hg19,7,102604030,C,T&fts=all	R225H	--	--	1																																		FBXL13_uc010liq.1_Missense_Mutation_p.R40H|FBXL13_uc010lir.1_Missense_Mutation_p.R225H|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.R225H|FBXL13_uc003vav.2_RNA	0,1	1		benign(0.002)	p.R225H	NM_145032	NP_659469	T:0	tolerated(0.49)	0,1	FXL13_HUMAN	FBXL13	HGNC	Q8NEE6	FXL13_HUMAN					8	1101	-			UPI000020F830	225					SNV	FBXL13,missense_variant,p.Arg225His,ENST00000393772,NM_001287150.1;FBXL13,missense_variant,p.Arg225His,ENST00000379308,;FBXL13,missense_variant,p.Arg225His,ENST00000313221,NM_145032.3;FBXL13,missense_variant,p.Arg225His,ENST00000436908,;FBXL13,missense_variant,p.Arg225His,ENST00000379305,;FBXL13,missense_variant,p.Arg225His,ENST00000455112,NM_001111038.1;FBXL13,missense_variant,p.Arg225His,ENST00000379306,;FBXL13,missense_variant,p.Arg225His,ENST00000456695,;FBXL13,non_coding_transcript_exon_variant,,ENST00000471074,;FBXL13,non_coding_transcript_exon_variant,,ENST00000477915,;FBXL13,missense_variant,p.Arg315His,ENST00000448002,;	uc003vaq.2	c.674G>A	1101/2744	2	2			c.674G>A						7	SNP	c.(673-675)CGT>CAT	48	48				0	Broad	F-box and leucine-rich repeat protein 13 isoform			102604030		0.328	ENSG00000161040	5607	g.chr7:102604030C>T										94.944768	KEEP	17	29	-1	67	70	17	29	-1	103.851066	67	70	0.257485	1	0	0	0	0	1	0	0	0	--	--		0	T			FBXL13_uc010liq.1_Missense_Mutation_p.R40H|FBXL13_uc010lir.1_Missense_Mutation_p.R225H|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.R225H|FBXL13_uc003vav.2_RNA	196	GBM-27-1837-TP	p.R225H	C	AAAATTCAAACGCAGCACATT	NM_145032	NP_659469	102604030	Q8NEE6	FXL13_HUMAN	0			8	1101	-	T	T			Missense_Mutation	225						
FBXL13	0	broad.mit.edu	GRCh37	7	102669857	102669857	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-81-5910-01	TCGA-81-5910-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313221.4:c.9G>A	p.Pro3=	p.P3=	ENST00000313221	NM_145032.3	3	ccG/ccA	0			1			T	P	uc003vaq.2	protein_coding	YES	CCDS5726.1			8-Sep										0	c.(7-9)CCG>CCA				F-box and leucine-rich repeat protein 13 isoform				ENSP00000321927		20-Mar	3.30E-05		0.000116			2.45E-05		7.96E-05	rs760375206,COSM3083674	20-Mar	.		ENST00000313221	Transcript						ENSG00000161040	g.chr7:102669857C>T	21658			LOW								--	--	1																																		FBXL13_uc010lir.1_Silent_p.P3P|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Silent_p.P3P|FBXL13_uc003vav.2_RNA	0,1	1			p.P3P	NM_145032	NP_659469			0,1	FXL13_HUMAN	FBXL13	HGNC	Q8NEE6	FXL13_HUMAN					3	436	-			UPI000020F830	3					SNV	FBXL13,synonymous_variant,p.=,ENST00000393772,NM_001287150.1;FBXL13,synonymous_variant,p.=,ENST00000379308,;FBXL13,synonymous_variant,p.=,ENST00000313221,NM_145032.3;FBXL13,synonymous_variant,p.=,ENST00000436908,;FBXL13,synonymous_variant,p.=,ENST00000379305,;FBXL13,synonymous_variant,p.=,ENST00000455112,NM_001111038.1;FBXL13,synonymous_variant,p.=,ENST00000379306,;FBXL13,synonymous_variant,p.=,ENST00000456695,;FBXL13,synonymous_variant,p.=,ENST00000440067,;RP11-645N11.3,upstream_gene_variant,,ENST00000447336,;FBXL13,non_coding_transcript_exon_variant,,ENST00000471074,;FBXL13,synonymous_variant,p.=,ENST00000448002,;	uc003vaq.2	c.9G>A	436/2744	2	2			c.9G>A						7	SNP	c.(7-9)CCG>CCA	29	29				0	Broad	F-box and leucine-rich repeat protein 13 isoform			102669857		0.294	ENSG00000161040	5607	g.chr7:102669857C>T										6.680476	KEEP	0	4	-1	10	20	0	4	-1	10.356868	10	20	0.137931	1	0	0	0	0	0	0	1	0	--	--		0	T			FBXL13_uc010lir.1_Silent_p.P3P|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Silent_p.P3P|FBXL13_uc003vav.2_RNA	289	GBM-81-5910-TP	p.P3P	C	TCATCAATTCCGGAGTCATCT	NM_145032	NP_659469	102669857	Q8NEE6	FXL13_HUMAN	0			3	436	-	T	T			Silent	3						
FBXL16	0	broad.mit.edu	GRCh37	16	745854	745854	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01	TCGA-19-2620-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324361.5:c.703G>A	p.Gly235Arg	p.G235R	ENST00000324361		235	Ggg/Agg	0			1			T	G/R	uc002cjc.2	protein_coding		CCDS10421.1			703/1440										0	c.(703-705)GGG>AGG			Superfamily_domains:SSF52047,Gene3D:3.80.10.10,hmmpanther:PTHR23125:SF233,hmmpanther:PTHR23125	F-box and leucine-rich repeat protein 16				ENSP00000318674		7-Apr									COSM3402476	7-Apr	.		ENST00000324361	Transcript						ENSG00000127585	g.chr16:745854C>T	14150			MODERATE		2.89	medium	getma.org/?cm=msa&ty=f&p=FXL16_HUMAN&rb=86&re=285&var=G235R	getma.org/pdb.php?prot=FXL16_HUMAN&from=86&to=285&var=G235R	getma.org/?cm=var&var=hg19,16,745854,C,T&fts=all	G235R	--	--	1																																		FBXL16_uc002cja.2_5'Flank|FBXL16_uc002cjb.2_Missense_Mutation_p.G23R	1			probably_damaging(1)	p.G235R	NM_153350	NP_699181		deleterious(0.04)	1	FXL16_HUMAN	FBXL16	HGNC	Q8N461	FXL16_HUMAN			Q8N4J3_HUMAN,B3KR59_HUMAN		4	906	-		Hepatocellular(780;0.0218)	UPI0000141371	235					SNV	FBXL16,missense_variant,p.Gly235Arg,ENST00000397621,NM_153350.3;FBXL16,missense_variant,p.Gly235Arg,ENST00000324361,;FBXL16,missense_variant,p.Gly23Arg,ENST00000562563,;LA16c-313D11.12,downstream_gene_variant,,ENST00000566927,;FBXL16,upstream_gene_variant,,ENST00000562585,;LA16c-313D11.12,downstream_gene_variant,,ENST00000575305,;FBXL16,upstream_gene_variant,,ENST00000562648,;	uc002cjc.2	c.703G>A	906/3400	2	2			c.703G>A						16	SNP	c.(703-705)GGG>AGG	33	33				0	Broad	F-box and leucine-rich repeat protein 16			745854		0.672	ENSG00000127585	5610	g.chr16:745854C>T										-0.03168	KEEP	2	2	-1	24	30	2	2	-1	8.959106	24	30	0.08	1	0	0	0	0	1	0	0	0	--	--		0	T			FBXL16_uc002cja.2_5'Flank|FBXL16_uc002cjb.2_Missense_Mutation_p.G23R	162	GBM-19-2620-TP	p.G235R	C	GACCACAGCCCGGCCTCGGTG	NM_153350	NP_699181	745854	Q8N461	FXL16_HUMAN	0			4	906	-	T	T		Hepatocellular(780;0.0218)	Missense_Mutation	235						
FBXL17	64839	broad.mit.edu	GRCh37	5	107684192	107684192	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000542267.1:c.1414G>A	p.Gly472Ser	p.G472S	ENST00000542267	NM_001163315.2	472	Ggc/Agc	0			1			T	G/S	uc011cvc.1	protein_coding	YES	CCDS54886.1			1414/2106										0	c.(1414-1416)GGC>AGC			hmmpanther:PTHR23125:SF250,hmmpanther:PTHR23125,Gene3D:3.80.10.10,SMART_domains:SM00367,Superfamily_domains:SSF52047	F-box and leucine-rich repeat protein 17				ENSP00000437464		9-Apr	1.65E-05			0.000116		1.50E-05			rs752740515,COSM3409660,COSM3409661,COSM3409659	9-Apr	.		ENST00000542267	Transcript						ENSG00000145743	g.chr5:107684192C>T	13615			MODERATE		0.095	neutral	getma.org/?cm=msa&ty=f&p=FXL17_HUMAN&rb=369&re=568&var=G472S	getma.org/pdb.php?prot=FXL17_HUMAN&from=369&to=568&var=G472S	getma.org/?cm=var&var=hg19,5,107684192,C,T&fts=all	G472S	--	--	1																																		FBXL17_uc003kon.3_Missense_Mutation_p.G74S	0,1,1,1	1		benign(0.391)	p.G472S	NM_001163315	NP_001156787		tolerated(0.49)	0,1,1,1	FXL17_HUMAN	FBXL17	HGNC	Q9UF56	FXL17_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)			4	1821	-		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)	UPI00019B21FB	472					SNV	FBXL17,missense_variant,p.Gly472Ser,ENST00000542267,NM_001163315.2;FBXL17,missense_variant,p.Gly74Ser,ENST00000359660,;FBXL17,missense_variant,p.Gly74Ser,ENST00000496714,;FBXL17,non_coding_transcript_exon_variant,,ENST00000481160,;	uc011cvc.1	c.1414G>A	1821/5188	2	2			c.1414G>A						5	SNP	c.(1414-1416)GGC>AGC	45	45				0	Broad	F-box and leucine-rich repeat protein 17			107684192		0.368	ENSG00000145743	5611	g.chr5:107684192C>T										212.809432	KEEP	31	35	-1	17	12	31	35	-1	215.53329	17	12	0.685393	1	0	0	0	0	1	0	0	0	--	--		0	T			FBXL17_uc003kon.3_Missense_Mutation_p.G74S	102	GBM-06-5858-TP	p.G472S	C	TAACACTGGCCGAAATGAATA	NM_001163315	NP_001156787	107684192	Q9UF56	FXL17_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)	4	1821	-	T	T		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)	Missense_Mutation	472						
FBXL18	80028	broad.mit.edu	GRCh37	7	5521489	5521489	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382368.3:c.2074C>A	p.Arg692=	p.R692=	ENST00000382368	NM_024963.4	692	Cgg/Agg	0			1			T	R	uc003son.3	protein_coding	YES	CCDS43546.1			2074/2157									central_nervous_system(2)|ovary(1)	3	c.(2074-2076)CGG>AGG			hmmpanther:PTHR23125:SF280,hmmpanther:PTHR23125	F-box and leucine-rich repeat protein 18				ENSP00000371805		5-May									COSM3266527	5-May	.		ENST00000382368	Transcript						ENSG00000155034	g.chr7:5521489G>T	21874			LOW								--	--	1																																			1	1			p.R692R	NM_024963	NP_079239			1	FXL18_HUMAN	FBXL18	HGNC	Q96ME1	FXL18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)			5	2168	-		Ovarian(82;0.0607)	UPI000020EA59	Error:Variant_position_missing_in_Q96ME1_after_alignment					SNV	FBXL18,synonymous_variant,p.=,ENST00000382368,NM_024963.4;AC092171.4,downstream_gene_variant,,ENST00000444210,;snoU13,upstream_gene_variant,,ENST00000458839,;FBXL18,intron_variant,,ENST00000415009,;	uc003son.3	c.2074C>A	2198/3498	2	2			c.2074C>A						7	SNP	c.(2074-2076)CGG>AGG	44	44			central_nervous_system(2)|ovary(1)	3	Broad	F-box and leucine-rich repeat protein 18			5521489		0.642	ENSG00000155034	5612	g.chr7:5521489G>T										-78.303467	KEEP	5	5	0.5	186	213	5	5	0.5	14.829153	186	213	0.021918	1	0	0	0	0	0	0	1	0	--	--		0	T				102	GBM-06-5858-TP	p.R692R	G	GGGACGTCCCGGATGACGTCG	NM_024963	NP_079239	5521489	Q96ME1	FXL18_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)	5	2168	-	T	T		Ovarian(82;0.0607)	Silent	Error:Variant_position_missing_in_Q96ME1_after_alignment						
FBXL18	80028	broad.mit.edu	GRCh37	7	5540355	5540355	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382368.3:c.1545C>T	p.Arg515=	p.R515=	ENST00000382368	NM_024963.4	515	cgC/cgT	0	A:0	A:0	1	A:0		A	R	uc003soo.2	protein_coding	YES	CCDS43546.1			1545/2157									central_nervous_system(2)|ovary(1)	3	c.(1543-1545)CGC>CGT			hmmpanther:PTHR23125:SF280,hmmpanther:PTHR23125,Gene3D:3.80.10.10	F-box and leucine-rich repeat protein 18		A:0	A:0.0001	ENSP00000371805	A:0	5-Mar	0.000265		9.38E-05			3.41E-05		0.00182	rs367548523,COSM3412208,COSM3412206,COSM3412207	5-Mar	common_variant		ENST00000382368	Transcript		A:0.0002				ENSG00000155034	g.chr7:5540355G>A	21874			LOW								--	--	1																																		FBXL18_uc003son.3_Silent_p.R515R	0,1,1,1	1			p.R515R	NM_024963	NP_079239	A:0.001		0,1,1,1	FXL18_HUMAN	FBXL18	HGNC	Q96ME1	FXL18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)			3	1639	-		Ovarian(82;0.0607)	UPI000020EA59	515					SNV	FBXL18,synonymous_variant,p.=,ENST00000382368,NM_024963.4;FBXL18,synonymous_variant,p.=,ENST00000453700,;FBXL18,synonymous_variant,p.=,ENST00000458142,;MIR589,upstream_gene_variant,,ENST00000385238,;FBXL18,synonymous_variant,p.=,ENST00000415009,;	uc003soo.2	c.1545C>T	1669/3498	1	1			c.1545C>T						7	SNP	c.(1543-1545)CGC>CGT	50	50			central_nervous_system(2)|ovary(1)	3	Broad	F-box and leucine-rich repeat protein 18			5540355		0.687	ENSG00000155034	5612	g.chr7:5540355G>A										68.820675	KEEP	7	18	-1	20	13	7	18	-1	68.927023	20	13	0.45098	1	0	0	0	0	0	0	1	0	--	--		0	A			FBXL18_uc003son.3_Silent_p.R515R	102	GBM-06-5858-TP	p.R515R	G	CACTCTGTGCGCGGCTGCAGG	NM_024963	NP_079239	5540355	Q96ME1	FXL18_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)	3	1639	-	A	A		Ovarian(82;0.0607)	Silent	515						
FBXL19	54620	broad.mit.edu	GRCh37	16	30958480	30958480	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380310.2:c.2014C>T	p.Arg672Trp	p.R672W	ENST00000380310	NM_001099784.2	672	Cgg/Tgg	0			1			T	R/W	uc002eab.2	protein_coding	YES	CCDS45465.1			2014/2085									ovary(2)|lung(1)|breast(1)	4	c.(2014-2016)CGG>TGG			SMART_domains:SM00367,Gene3D:3.80.10.10,hmmpanther:PTHR23125:SF254,hmmpanther:PTHR23125	F-box and leucine-rich repeat protein 19				ENSP00000369666		11-Nov									COSM3402283,COSM3402282	11-Nov	.		ENST00000380310	Transcript					DNA binding|zinc ion binding	ENSG00000099364	g.chr16:30958480C>T	25300			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=FXL19_HUMAN&rb=637&re=694&var=R672W	NA	getma.org/?cm=var&var=hg19,16,30958480,C,T&fts=all	R672W	--	--	1																																		FBXL19_uc002dzz.1_Missense_Mutation_p.R360W|FBXL19_uc002eaa.1_Missense_Mutation_p.R571W|ORAI3_uc002eac.2_5'Flank	1,1	1		probably_damaging(0.919)	p.R672W	NM_001099784	NP_001093254		deleterious(0)	1,1	FXL19_HUMAN	FBXL19	HGNC	Q6PCT2	FXL19_HUMAN			H3BVB1_HUMAN,H3BQP6_HUMAN,H3BPZ0_HUMAN		11	2172	+			UPI00015C725E	672			LRR 6.		SNV	FBXL19,missense_variant,p.Arg652Trp,ENST00000338343,;FBXL19,missense_variant,p.Arg672Trp,ENST00000380310,NM_001099784.2,NM_001271651.1;FBXL19,missense_variant,p.Arg360Trp,ENST00000471231,NM_001282351.1;FBXL19,missense_variant,p.Arg564Trp,ENST00000427128,;FBXL19,missense_variant,p.Arg536Trp,ENST00000565690,;FBXL19,missense_variant,p.Arg652Trp,ENST00000562319,;FBXL19,missense_variant,p.Pro109Leu,ENST00000565939,;FBXL19,intron_variant,,ENST00000566320,;ORAI3,upstream_gene_variant,,ENST00000318663,NM_152288.2;ORAI3,upstream_gene_variant,,ENST00000566237,;ORAI3,upstream_gene_variant,,ENST00000562699,;AC135048.13,upstream_gene_variant,,ENST00000566056,;AC135048.13,upstream_gene_variant,,ENST00000562642,;ORAI3,upstream_gene_variant,,ENST00000563161,;	uc002eab.2	c.2014C>T	2172/3796	2	2			c.2014C>T						16	SNP	c.(2014-2016)CGG>TGG	24	24			ovary(2)|lung(1)|breast(1)	4	Broad	F-box and leucine-rich repeat protein 19			30958480		0.711	ENSG00000099364	5613	g.chr16:30958480C>T			DNA binding|zinc ion binding							62.055172	KEEP	12	15	-1	4	3	12	15	-1	63.418176	4	3	0.75	1	0	0	0	0	1	0	0	0	--	--		0	T			FBXL19_uc002dzz.1_Missense_Mutation_p.R360W|FBXL19_uc002eaa.1_Missense_Mutation_p.R571W|ORAI3_uc002eac.2_5'Flank	102	GBM-06-5858-TP	p.R672W	C	AGCTTGTGCCCGGCTGGCAGC	NM_001099784	NP_001093254	30958480	Q6PCT2	FXL19_HUMAN	0			11	2172	+	T	T			Missense_Mutation	672			LRR 6.			
FBXL20	84961	broad.mit.edu	GRCh37	17	37431297	37431297	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-2561-01	TCGA-06-2561-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264658.6:c.753C>A	p.Ser251=	p.S251=	ENST00000264658	NM_032875.2	251	tcC/tcA	0			1			T	S	uc010wed.1	protein_coding	YES	CCDS32640.1			753/1311									ovary(1)	1	c.(751-753)TCC>TCA			hmmpanther:PTHR23125,hmmpanther:PTHR23125:SF209,Gene3D:3.80.10.10,Pfam_domain:PF13516,SMART_domains:SM00367,Superfamily_domains:SSF52047	F-box and leucine-rich repeat protein 20				ENSP00000264658		15-Oct	8.24E-06					1.50E-05			rs770647171,COSM3402822	15-Oct	.		ENST00000264658	Transcript				cytoplasm		ENSG00000108306	g.chr17:37431297G>T	24679			LOW								--	--	1																																		FBXL20_uc002hrt.2_Silent_p.S251S|FBXL20_uc010cvu.2_Silent_p.S219S	0,1	1			p.S251S	NM_032875	NP_116264			0,1	FXL20_HUMAN	FBXL20	HGNC	Q96IG2	FXL20_HUMAN	LUAD - Lung adenocarcinoma(14;0.146)				10	974	-			UPI000000D932	251			LRR 7.		SNV	FBXL20,synonymous_variant,p.=,ENST00000264658,NM_032875.2;FBXL20,synonymous_variant,p.=,ENST00000394294,NM_001184906.1;FBXL20,synonymous_variant,p.=,ENST00000583610,;FBXL20,synonymous_variant,p.=,ENST00000577399,;FBXL20,upstream_gene_variant,,ENST00000581781,;	uc010wed.1	c.753C>A	1014/2445	2	2			c.753C>A						17	SNP	c.(751-753)TCC>TCA	43	43			ovary(1)	1	Broad	F-box and leucine-rich repeat protein 20			37431297		0.403	ENSG00000108306	5615	g.chr17:37431297G>T		cytoplasm								29.888045	KEEP	7	13	0.35	63	81	7	13	0.35	49.944944	63	81	0.131579	1	0	0	0	0	0	0	1	0	--	--		0	T			FBXL20_uc002hrt.2_Silent_p.S251S|FBXL20_uc010cvu.2_Silent_p.S219S	84	GBM-06-2561-TP	p.S251S	G	AGGCACAAAGGGATTGTAACT	NM_032875	NP_116264	37431297	Q96IG2	FXL20_HUMAN	0	LUAD - Lung adenocarcinoma(14;0.146)		10	974	-	T	T			Silent	251			LRR 7.			
FBXL5	0	broad.mit.edu	GRCh37	4	15626935	15626935	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-27-2528-01	TCGA-27-2528-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341285.3:c.1790G>T	p.Gly597Val	p.G597V	ENST00000341285	NM_001193534.1	597	gGa/gTa	0			1			A	G/V	uc003goc.1	protein_coding	YES	CCDS3415.1			1790/2076										0	c.(1789-1791)GGA>GTA			Gene3D:3.80.10.10,hmmpanther:PTHR23125,hmmpanther:PTHR23125:SF211,SMART_domains:SM00367,Superfamily_domains:SSF52047	F-box and leucine-rich repeat protein 5 isoform				ENSP00000344866		11-Sep									COSM3409124	11-Sep	.		ENST00000341285	Transcript			iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity	ENSG00000118564	g.chr4:15626935C>A	13602			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=FBXL5_HUMAN&rb=410&re=609&var=G597V	NA	getma.org/?cm=var&var=hg19,4,15626935,C,A&fts=all	G597V	--	--	1																																		FBXL5_uc010idw.1_Missense_Mutation_p.G510V|FBXL5_uc003gob.1_Missense_Mutation_p.G471V|FBXL5_uc010idx.1_Missense_Mutation_p.G596V|FBXL5_uc003god.1_Missense_Mutation_p.G580V|FBXL5_uc010idy.1_Missense_Mutation_p.G597V	1	1		benign(0.15)	p.G597V	NM_012161	NP_036293		tolerated(0.06)	1	FBXL5_HUMAN	FBXL5	HGNC	Q9UKA1	FBXL5_HUMAN			D6RHC3_HUMAN,D6RCR7_HUMAN,D6RBW7_HUMAN,D6RB50_HUMAN		9	1893	-			UPI0000035C83	597			LRR 5.		SNV	FBXL5,missense_variant,p.Gly597Val,ENST00000341285,NM_001193534.1,NM_012161.3,NM_001193535.1;FBXL5,missense_variant,p.Gly471Val,ENST00000382358,;FBXL5,missense_variant,p.Gly580Val,ENST00000412094,;FBXL5,missense_variant,p.Gly518Val,ENST00000513163,;FBXL5,3_prime_UTR_variant,,ENST00000511441,;FBXL5,non_coding_transcript_exon_variant,,ENST00000507700,;	uc003goc.1	c.1790G>T	1915/3385	2	2			c.1790G>T						4	SNP	c.(1789-1791)GGA>GTA	48	48				0	Broad	F-box and leucine-rich repeat protein 5 isoform			15626935		0.393	ENSG00000118564	5620	g.chr4:15626935C>A	iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity							90.207779	KEEP	16	19	0.542857143	35	37	16	19	0.542857143	93.104105	35	37	0.32381	1	0	0	0	0	1	0	0	0	--	--		0	A			FBXL5_uc010idw.1_Missense_Mutation_p.G510V|FBXL5_uc003gob.1_Missense_Mutation_p.G471V|FBXL5_uc010idx.1_Missense_Mutation_p.G596V|FBXL5_uc003god.1_Missense_Mutation_p.G580V|FBXL5_uc010idy.1_Missense_Mutation_p.G597V	205	GBM-27-2528-TP	p.G597V	C	AAGTACACGTCCAGTCTCTTG	NM_012161	NP_036293	15626935	Q9UKA1	FBXL5_HUMAN	0			9	1893	-	A	A			Missense_Mutation	597			LRR 5.			
FBXL6	0	broad.mit.edu	GRCh37	8	145581939	145581939	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01	TCGA-26-1439-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331890.5:c.169C>T	p.Pro57Ser	p.P57S	ENST00000331890	NM_012162.3	57	Ccc/Tcc	0			1			A	P/S	uc003zcb.2	protein_coding	YES	CCDS6422.1			169/1620									ovary(1)|lung(1)	2	c.(169-171)CCC>TCC			hmmpanther:PTHR23125,hmmpanther:PTHR23125:SF10,Low_complexity_(Seg):seg	F-box and leucine-rich repeat protein 6 isoform				ENSP00000330098		9-Jan									COSM3412855	9-Jan	.		ENST00000331890	Transcript			proteolysis		ubiquitin-protein ligase activity	ENSG00000182325	g.chr8:145581939G>A	13603			MODERATE		0.115	neutral	getma.org/?cm=msa&ty=f&p=FBXL6_HUMAN&rb=10&re=162&var=P57S	NA	getma.org/?cm=var&var=hg19,8,145581939,G,A&fts=all	P57S	--	--	1																																		C8ORFK29_uc003zby.3_5'Flank|FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_Missense_Mutation_p.P57S|FBXL6_uc010mfx.2_5'UTR|GPR172A_uc003zcc.1_5'Flank|GPR172A_uc003zcd.1_5'Flank|GPR172A_uc003zce.1_5'Flank|GPR172A_uc010mfy.1_5'Flank|GPR172A_uc003zcf.1_5'Flank|GPR172A_uc011llc.1_5'Flank	1	1		benign(0.002)	p.P57S	NM_012162	NP_036294		tolerated(0.73)	1	FBXL6_HUMAN	FBXL6	HGNC	Q8N531	FBXL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		Q71RB6_HUMAN		1	194	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		UPI000006E3A5	57			F-box.		SNV	FBXL6,missense_variant,p.Pro57Ser,ENST00000331890,NM_012162.3;FBXL6,missense_variant,p.Pro57Ser,ENST00000455319,NM_024555.5;SLC52A2,intron_variant,,ENST00000524541,;SLC52A2,upstream_gene_variant,,ENST00000532887,;SLC52A2,upstream_gene_variant,,ENST00000329994,NM_024531.4;SLC52A2,upstream_gene_variant,,ENST00000527078,;SLC52A2,upstream_gene_variant,,ENST00000402965,NM_001253815.1;SLC52A2,upstream_gene_variant,,ENST00000530047,NM_001253816.1;SLC52A2,upstream_gene_variant,,ENST00000540505,;TMEM249,upstream_gene_variant,,ENST00000398633,NM_001252402.2,NM_001280561.1;SLC52A2,upstream_gene_variant,,ENST00000534725,;TMEM249,upstream_gene_variant,,ENST00000526263,NM_001252404.2;SLC52A2,upstream_gene_variant,,ENST00000526752,;SLC52A2,upstream_gene_variant,,ENST00000526338,;SLC52A2,intron_variant,,ENST00000532815,;FBXL6,upstream_gene_variant,,ENST00000526524,;FBXL6,upstream_gene_variant,,ENST00000527000,;SLC52A2,upstream_gene_variant,,ENST00000526891,;FBXL6,upstream_gene_variant,,ENST00000530687,;FBXL6,upstream_gene_variant,,ENST00000524909,;FBXL6,non_coding_transcript_exon_variant,,ENST00000530142,;FBXL6,upstream_gene_variant,,ENST00000524492,;TMEM249,upstream_gene_variant,,ENST00000526503,;GS1-393G12.13,upstream_gene_variant,,ENST00000531225,;SLC52A2,upstream_gene_variant,,ENST00000533662,;SLC52A2,upstream_gene_variant,,ENST00000526779,;FBXL6,upstream_gene_variant,,ENST00000529279,;	uc003zcb.2	c.169C>T	234/1785	1	1			c.169C>T						8	SNP	c.(169-171)CCC>TCC	54	54			ovary(1)|lung(1)	2	Broad	F-box and leucine-rich repeat protein 6 isoform			145581939		0.413	ENSG00000182325	5621	g.chr8:145581939G>A	proteolysis		ubiquitin-protein ligase activity							6.849059	KEEP	2	0	-1	3	2	2	0	-1	6.892777	3	2	0.4	1	0	0	0	0	1	0	0	0	--	--		0	A			C8ORFK29_uc003zby.3_5'Flank|FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_Missense_Mutation_p.P57S|FBXL6_uc010mfx.2_5'UTR|GPR172A_uc003zcc.1_5'Flank|GPR172A_uc003zcd.1_5'Flank|GPR172A_uc003zce.1_5'Flank|GPR172A_uc010mfy.1_5'Flank|GPR172A_uc003zcf.1_5'Flank|GPR172A_uc011llc.1_5'Flank	179	GBM-26-1439-TP	p.P57S	G	tgtgcgcggggccgggcgggg	NM_012162	NP_036294	145581939	Q8N531	FBXL6_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		1	194	-	A	A	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	57			F-box.			
FBXL6	0	broad.mit.edu	GRCh37	8	145579316	145579316	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331890.5:c.1495G>C	p.Gly499Arg	p.G499R	ENST00000331890	NM_012162.3	499	Ggc/Cgc	0			1			G	G/R	uc003zcb.2	protein_coding	YES	CCDS6422.1			1495/1620									ovary(1)|lung(1)	2	c.(1495-1497)GGC>CGC			Superfamily_domains:SSF52047,SMART_domains:SM00367,Gene3D:3.80.10.10,hmmpanther:PTHR23125,hmmpanther:PTHR23125:SF10	F-box and leucine-rich repeat protein 6 isoform				ENSP00000330098		9-Sep									COSM3412854	9-Sep	.		ENST00000331890	Transcript			proteolysis		ubiquitin-protein ligase activity	ENSG00000182325	g.chr8:145579316C>G	13603			MODERATE		0.49	neutral	getma.org/?cm=msa&ty=f&p=FBXL6_HUMAN&rb=364&re=539&var=G499R	NA	getma.org/?cm=var&var=hg19,8,145579316,C,G&fts=all	G499R	--	--	1																																		C8ORFK29_uc011llb.1_5'Flank|C8ORFK29_uc010mfw.2_5'Flank|C8ORFK29_uc003zby.3_5'Flank|FBXL6_uc003zbz.2_Missense_Mutation_p.G226R|FBXL6_uc003zca.2_Missense_Mutation_p.G493R|FBXL6_uc010mfx.2_Missense_Mutation_p.G260R|GPR172A_uc003zcc.1_5'Flank|GPR172A_uc003zcd.1_5'Flank|GPR172A_uc003zce.1_5'Flank|GPR172A_uc010mfy.1_5'Flank|GPR172A_uc003zcf.1_5'Flank|GPR172A_uc011llc.1_5'Flank	1	1		possibly_damaging(0.634)	p.G499R	NM_012162	NP_036294		deleterious(0.01)	1	FBXL6_HUMAN	FBXL6	HGNC	Q8N531	FBXL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		Q71RB6_HUMAN		9	1520	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		UPI000006E3A5	499			LRR 11.		SNV	FBXL6,missense_variant,p.Gly499Arg,ENST00000331890,NM_012162.3;FBXL6,missense_variant,p.Gly493Arg,ENST00000455319,NM_024555.5;SLC52A2,intron_variant,,ENST00000524541,;SLC52A2,upstream_gene_variant,,ENST00000532887,;SLC52A2,upstream_gene_variant,,ENST00000329994,NM_024531.4;SLC52A2,upstream_gene_variant,,ENST00000527078,;SLC52A2,upstream_gene_variant,,ENST00000402965,NM_001253815.1;SLC52A2,upstream_gene_variant,,ENST00000530047,NM_001253816.1;SLC52A2,upstream_gene_variant,,ENST00000540505,;TMEM249,upstream_gene_variant,,ENST00000398633,NM_001252402.2,NM_001280561.1;SLC52A2,upstream_gene_variant,,ENST00000534725,;TMEM249,upstream_gene_variant,,ENST00000526263,NM_001252404.2;SLC52A2,upstream_gene_variant,,ENST00000526752,;SLC52A2,upstream_gene_variant,,ENST00000526338,;FBXL6,non_coding_transcript_exon_variant,,ENST00000526524,;SLC52A2,intron_variant,,ENST00000532815,;FBXL6,downstream_gene_variant,,ENST00000527000,;SLC52A2,upstream_gene_variant,,ENST00000526891,;FBXL6,downstream_gene_variant,,ENST00000530687,;FBXL6,downstream_gene_variant,,ENST00000524909,;FBXL6,non_coding_transcript_exon_variant,,ENST00000530142,;FBXL6,non_coding_transcript_exon_variant,,ENST00000524492,;TMEM249,upstream_gene_variant,,ENST00000526503,;GS1-393G12.13,upstream_gene_variant,,ENST00000531225,;SLC52A2,upstream_gene_variant,,ENST00000533662,;SLC52A2,upstream_gene_variant,,ENST00000526779,;FBXL6,downstream_gene_variant,,ENST00000529279,;	uc003zcb.2	c.1495G>C	1560/1785	3	3			c.1495G>C						8	SNP	c.(1495-1497)GGC>CGC	12	12			ovary(1)|lung(1)	2	Broad	F-box and leucine-rich repeat protein 6 isoform			145579316		0.657	ENSG00000182325	5621	g.chr8:145579316C>G	proteolysis		ubiquitin-protein ligase activity							-3.00149	KEEP	0	2	-1	28	17	0	2	-1	6.346195	28	17	0.046512	1	0	0	0	0	1	0	0	0	--	--		0	G			C8ORFK29_uc011llb.1_5'Flank|C8ORFK29_uc010mfw.2_5'Flank|C8ORFK29_uc003zby.3_5'Flank|FBXL6_uc003zbz.2_Missense_Mutation_p.G226R|FBXL6_uc003zca.2_Missense_Mutation_p.G493R|FBXL6_uc010mfx.2_Missense_Mutation_p.G260R|GPR172A_uc003zcc.1_5'Flank|GPR172A_uc003zcd.1_5'Flank|GPR172A_uc003zce.1_5'Flank|GPR172A_uc010mfy.1_5'Flank|GPR172A_uc003zcf.1_5'Flank|GPR172A_uc011llc.1_5'Flank	229	GBM-32-1977-TP	p.G499R	C	TAGAGCAGGCCCGGGCAGCTG	NM_012162	NP_036294	145579316	Q8N531	FBXL6_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		9	1520	-	G	G	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	499			LRR 11.			
FBXO10	26267	broad.mit.edu	GRCh37	9	37522884	37522884	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-5417-01	TCGA-06-5417-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000432825.2:c.1868A>G	p.Tyr623Cys	p.Y623C	ENST00000432825	NM_012166.2	623	tAt/tGt	0			1			C	Y/C	uc004aab.2	protein_coding	YES	CCDS47966.1			1868/2871									lung(5)	5	c.(1867-1869)TAT>TGT			hmmpanther:PTHR22990,Pfam_domain:PF13229,SMART_domains:SM00710,SMART_domains:SM00722,Superfamily_domains:SSF51126	F-box protein 10				ENSP00000403802		11-Jul									COSM3413653	11-Jul	.		ENST00000432825	Transcript				ubiquitin ligase complex	ubiquitin-protein ligase activity	ENSG00000147912	g.chr9:37522884T>C	13589			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=FBX10_HUMAN&rb=545&re=685&var=Y623C	NA	getma.org/?cm=var&var=hg19,9,37522884,T,C&fts=all	Y623C	--	--	1																																		FBXO10_uc004aac.2_Missense_Mutation_p.Y639C|FBXO10_uc004aad.2_Missense_Mutation_p.Y173C	1	1		probably_damaging(0.943)	p.Y623C	NM_012166	NP_036298		deleterious(0.02)	1	FBX10_HUMAN	FBXO10	HGNC	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	Q08AL4_HUMAN,F5GXN9_HUMAN		7	1917	-			UPI00001C1EC6	623			PbH1 10.		SNV	FBXO10,missense_variant,p.Tyr623Cys,ENST00000432825,NM_012166.2;FBXO10,missense_variant,p.Tyr148Cys,ENST00000541829,;RP11-613M10.8,non_coding_transcript_exon_variant,,ENST00000544475,;RP11-613M10.8,non_coding_transcript_exon_variant,,ENST00000541804,;FBXO10,non_coding_transcript_exon_variant,,ENST00000543968,;FBXO10,non_coding_transcript_exon_variant,,ENST00000544208,;FBXO10,3_prime_UTR_variant,,ENST00000276960,;	uc004aab.2	c.1868A>G	1917/4575	3	3			c.1868A>G						9	SNP	c.(1867-1869)TAT>TGT	4	4			lung(5)	5	Broad	F-box protein 10			37522884		0.468	ENSG00000147912	5624	g.chr9:37522884T>C		ubiquitin ligase complex	ubiquitin-protein ligase activity							21.850586	KEEP	2	4	-1	2	4	2	4	-1	21.850586	2	4	0.5	1	0	0	0	0	1	0	0	0	--	--		0	C			FBXO10_uc004aac.2_Missense_Mutation_p.Y639C|FBXO10_uc004aad.2_Missense_Mutation_p.Y173C	99	GBM-06-5417-TP	p.Y623C	T	ACCATCTGAATAGCCAAAGCA	NM_012166	NP_036298	37522884	Q9UK96	FBX10_HUMAN	0		GBM - Glioblastoma multiforme(29;0.0107)	7	1917	-	C	C			Missense_Mutation	623			PbH1 10.			
FBXO10	26267		GRCh37	9	37515999	37515999	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000432825.2:c.2598C>A	p.Ile866=	p.I866=	ENST00000432825	NM_012166.2	866	atC/atA	0																																																																																																																																																																																																																																												
FBXO15	201456	broad.mit.edu	GRCh37	18	71790685	71790685	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000419743.2:c.1056C>T	p.His352=	p.H352=	ENST00000419743	NM_001142958.1	352	caC/caT	0		A:0.0008	1	A:0		A	H	uc002lle.2	protein_coding	YES	CCDS45884.1			1056/1533									ovary(2)|pancreas(1)	3	c.(826-828)CAC>CAT			hmmpanther:PTHR20995:SF16,hmmpanther:PTHR20995	F-box protein 15 isoform 1		A:0		ENSP00000393154	A:0	10-Aug	4.94E-05	0.000192			0.000151			0.000182	rs573445550,COSM1252257,COSM1252256	10-Aug	.		ENST00000419743	Transcript		A:0.0002				ENSG00000141665	g.chr18:71790685G>A	13617			LOW								--	--	1																																		FBXO15_uc002llf.2_Silent_p.H352H	0,1,1	1			p.H276H	NM_152676	NP_689889	A:0		0,1,1	FBX15_HUMAN	FBXO15	HGNC	Q8NCQ5	FBX15_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.143)	J3QRE7_HUMAN		8	1164	-		Esophageal squamous(42;0.103)|Prostate(75;0.173)	UPI00003CF23D	276					SNV	FBXO15,synonymous_variant,p.=,ENST00000269500,NM_152676.2;FBXO15,synonymous_variant,p.=,ENST00000419743,NM_001142958.1;FBXO15,synonymous_variant,p.=,ENST00000579517,;FBXO15,synonymous_variant,p.=,ENST00000580088,;FBXO15,3_prime_UTR_variant,,ENST00000583443,;FBXO15,3_prime_UTR_variant,,ENST00000581214,;FBXO15,3_prime_UTR_variant,,ENST00000578399,;	uc002lle.2	c.828C>T	1136/1708	2	2			c.828C>T						18	SNP	c.(826-828)CAC>CAT	35	35			ovary(2)|pancreas(1)	3	Broad	F-box protein 15 isoform 1			71790685		0.443	ENSG00000141665	5626	g.chr18:71790685G>A										-9.270453	KEEP	2	2	-1	41	41	2	2	-1	7.917332	41	41	0.05	1	0	0	0	0	0	0	1	0	--	--		0	A			FBXO15_uc002llf.2_Silent_p.H352H	18	GBM-06-0137-TP	p.H276H	G	GTTGGTAGCCGTGCAGTCCAT	NM_152676	NP_689889	71790685	Q8NCQ5	FBX15_HUMAN	0		BRCA - Breast invasive adenocarcinoma(31;0.143)	8	1164	-	A	A		Esophageal squamous(42;0.103)|Prostate(75;0.173)	Silent	276						
FBXO15	201456	broad.mit.edu	GRCh37	18	71791770	71791770	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-6388-01	TCGA-06-6388-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000419743.2:c.949C>G	p.His317Asp	p.H317D	ENST00000419743	NM_001142958.1	317	Cat/Gat	0			1			C	H/D	uc002lle.2	protein_coding	YES	CCDS45884.1			949/1533									ovary(2)|pancreas(1)	3	c.(721-723)CAT>GAT			hmmpanther:PTHR20995:SF16,hmmpanther:PTHR20995	F-box protein 15 isoform 1				ENSP00000393154		10-Jul									COSM3403645,COSM3403644	10-Jul	.		ENST00000419743	Transcript						ENSG00000141665	g.chr18:71791770G>C	13617			MODERATE		2.485	medium	getma.org/?cm=msa&ty=f&p=FBX15_HUMAN&rb=245&re=444&var=H317D	NA	getma.org/?cm=var&var=hg19,18,71791770,G,C&fts=all	H317D	--	--	1																																		FBXO15_uc002llf.2_Missense_Mutation_p.H317D	1,1	1		probably_damaging(0.999)	p.H241D	NM_152676	NP_689889		deleterious(0)	1,1	FBX15_HUMAN	FBXO15	HGNC	Q8NCQ5	FBX15_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.143)	J3QRE7_HUMAN		7	1057	-		Esophageal squamous(42;0.103)|Prostate(75;0.173)	UPI00003CF23D	241					SNV	FBXO15,missense_variant,p.His241Asp,ENST00000269500,NM_152676.2;FBXO15,missense_variant,p.His317Asp,ENST00000419743,NM_001142958.1;FBXO15,missense_variant,p.His57Asp,ENST00000579517,;FBXO15,upstream_gene_variant,,ENST00000580088,;FBXO15,3_prime_UTR_variant,,ENST00000583443,;FBXO15,3_prime_UTR_variant,,ENST00000581214,;FBXO15,3_prime_UTR_variant,,ENST00000578399,;	uc002lle.2	c.721C>G	1029/1708	3	3			c.721C>G						18	SNP	c.(721-723)CAT>GAT	56	56			ovary(2)|pancreas(1)	3	Broad	F-box protein 15 isoform 1			71791770		0.328	ENSG00000141665	5626	g.chr18:71791770G>C										126.317772	KEEP	15	27	-1	9	24	15	27	-1	126.438942	9	24	0.546875	1	0	0	0	0	1	0	0	0	--	--		0	C			FBXO15_uc002llf.2_Missense_Mutation_p.H317D	104	GBM-06-6388-TP	p.H241D	G	TGATGAAAATGAAGATTTGCC	NM_152676	NP_689889	71791770	Q8NCQ5	FBX15_HUMAN	0		BRCA - Breast invasive adenocarcinoma(31;0.143)	7	1057	-	C	C		Esophageal squamous(42;0.103)|Prostate(75;0.173)	Missense_Mutation	241						
FBXO16	157574	broad.mit.edu	GRCh37	8	28321322	28321322	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-02-0033-01	TCGA-02-0033-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380254.2:c.149C>A	p.Thr50Lys	p.T50K	ENST00000380254	NM_172366.3	50	aCa/aAa	0			1			T	T/K	uc003xgu.2	protein_coding	YES	CCDS6068.1			149/879									ovary(1)	1	c.(148-150)ACA>AAA			hmmpanther:PTHR22844,hmmpanther:PTHR22844:SF168	F-box only protein 16				ENSP00000369604		9-Apr									COSM2148968	9-Apr	.		ENST00000380254	Transcript						ENSG00000214050	g.chr8:28321322G>T	13618			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=FBX16_HUMAN&rb=1&re=88&var=T50K	NA	getma.org/?cm=var&var=hg19,8,28321322,G,T&fts=all	T50K	--	--	1																																		ZNF395_uc003xgt.2_5'UTR|FBXO16_uc003xgv.2_Missense_Mutation_p.T37K|FBXO16_uc003xgw.2_Missense_Mutation_p.T37K	1	1		possibly_damaging(0.641)	p.T50K	NM_172366	NP_758954		deleterious(0)	1	FBX16_HUMAN	FBXO16	HGNC	Q8IX29	FBX16_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)			4	247	-		Ovarian(32;2.06e-05)	UPI0000074424	50					SNV	FBXO16,missense_variant,p.Thr50Lys,ENST00000380254,NM_172366.3,NM_001258211.1;FBXO16,missense_variant,p.Thr38Lys,ENST00000346498,;FBXO16,missense_variant,p.Thr38Lys,ENST00000518734,;FBXO16,missense_variant,p.Thr50Lys,ENST00000517673,;FBXO16,downstream_gene_variant,,ENST00000519471,;FBXO16,non_coding_transcript_exon_variant,,ENST00000517436,;FBXO16,missense_variant,p.Thr50Lys,ENST00000521548,;FBXO16,non_coding_transcript_exon_variant,,ENST00000518016,;FBXO16,upstream_gene_variant,,ENST00000520481,;	uc003xgu.2	c.149C>A	298/1343	2	2			c.149C>A						8	SNP	c.(148-150)ACA>AAA	37	37			ovary(1)	1	Broad	F-box only protein 16			28321322		0.428	ENSG00000214050	5627	g.chr8:28321322G>T										64.183794	KEEP	14	13	0.518518519	51	43	14	13	0.518518519	71.731235	51	43	0.227273	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF395_uc003xgt.2_5'UTR|FBXO16_uc003xgv.2_Missense_Mutation_p.T37K|FBXO16_uc003xgw.2_Missense_Mutation_p.T37K	2	GBM-02-0033-TP	p.T50K	G	TTGAGAGTCTGTCCATTTGTC	NM_172366	NP_758954	28321322	Q8IX29	FBX16_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)	4	247	-	T	T		Ovarian(32;2.06e-05)	Missense_Mutation	50						
FBXO22	26263	broad.mit.edu	GRCh37	15	76205599	76205599	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0648-01	TCGA-06-0648-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308275.3:c.336del	p.Ser113ValfsTer37	p.S113Vfs*37	ENST00000308275	NM_147188.2	112	aTt/at	0			1			-	I/X	uc002bbk.2	protein_coding	YES	CCDS10287.1			335/1212										0	c.(334-336)ATTfs			hmmpanther:PTHR14939,hmmpanther:PTHR14939:SF4	F-box only protein 22 isoform a				ENSP00000307833		7-Mar									COSM2151380,COSM2151381	7-Mar	.		ENST00000308275	Transcript			ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity	ENSG00000167196	g.chr15:76205599delT	13593	1		HIGH								--	--	1																																		FBXO22_uc002bbj.1_Frame_Shift_Del_p.I112fs|FBXO22_uc002bbl.2_Frame_Shift_Del_p.I8fs	1,1	1			p.I112fs	NM_147188	NP_671717			1,1	FBX22_HUMAN	FBXO22	HGNC	Q8NEZ5	FBX22_HUMAN			H3BUC1_HUMAN,H3BTR7_HUMAN,H3BRE0_HUMAN		3	440	+			UPI0000049FDF	112					deletion	FBXO22,frameshift_variant,p.Ser113ValfsTer37,ENST00000308275,NM_147188.2;FBXO22,frameshift_variant,p.Ser113ValfsTer37,ENST00000453211,NM_012170.3;FBXO22,frameshift_variant,p.Ser9ValfsTer37,ENST00000540507,;FBXO22,frameshift_variant,p.Ser9ValfsTer37,ENST00000569054,;FBXO22,frameshift_variant,p.Ser107ValfsTer37,ENST00000565036,;FBXO22,downstream_gene_variant,,ENST00000565131,;FBXO22,3_prime_UTR_variant,,ENST00000569022,;FBXO22,intron_variant,,ENST00000569749,;FBXO22,upstream_gene_variant,,ENST00000561885,;	uc002bbk.2	c.335delT	440/3483	5	5			c.335delT						15	DEL	c.(334-336)ATTfs	42	42				0	Broad	F-box only protein 22 isoform a			76205599		0.358	ENSG00000167196	5632	g.chr15:76205599delT	ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity																				0.24	1	1	0	1	0	0	0	0	0	--	--		0	-			FBXO22_uc002bbj.1_Frame_Shift_Del_p.I112fs|FBXO22_uc002bbl.2_Frame_Shift_Del_p.I8fs	61	GBM-06-0648-TP	p.I112fs	T	GAAACTTTCATTAGTCTGGAA	NM_147188	NP_671717	76205599	Q8NEZ5	FBX22_HUMAN	0			3	440	+	-	-			Frame_Shift_Del	112						
FBXO22	0	broad.mit.edu	GRCh37	15	76225151	76225151	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-27-2521-01	TCGA-27-2521-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308275.3:c.920A>G	p.Gln307Arg	p.Q307R	ENST00000308275	NM_147188.2	307	cAg/cGg	0			1			G	Q/R	uc002bbk.2	protein_coding	YES	CCDS10287.1			920/1212										0	c.(919-921)CAG>CGG			Pfam_domain:PF10442,hmmpanther:PTHR14939,hmmpanther:PTHR14939:SF4	F-box only protein 22 isoform a				ENSP00000307833		7-Jul									rs370353595,COSM3401934	7-Jul	.		ENST00000308275	Transcript			ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity	ENSG00000167196	g.chr15:76225151A>G	13593			MODERATE		0.74	neutral	getma.org/?cm=msa&ty=f&p=FBX22_HUMAN&rb=280&re=366&var=Q307R	NA	getma.org/?cm=var&var=hg19,15,76225151,A,G&fts=all	Q307R	--	--	1																																		FBXO22_uc002bbl.2_Missense_Mutation_p.Q203R|FBXO22OS_uc002bbm.1_RNA	0,1	1		benign(0.006)	p.Q307R	NM_147188	NP_671717		tolerated(0.4)	0,1	FBX22_HUMAN	FBXO22	HGNC	Q8NEZ5	FBX22_HUMAN			H3BUC1_HUMAN,H3BTR7_HUMAN,H3BRE0_HUMAN		7	1025	+			UPI0000049FDF	307					SNV	FBXO22,missense_variant,p.Gln307Arg,ENST00000308275,NM_147188.2;FBXO22,missense_variant,p.Gln203Arg,ENST00000540507,;FBXO22,missense_variant,p.Gln4Arg,ENST00000564220,;FBXO22,downstream_gene_variant,,ENST00000453211,NM_012170.3;FBXO22,downstream_gene_variant,,ENST00000569054,;FBXO22,downstream_gene_variant,,ENST00000565036,;NRG4,downstream_gene_variant,,ENST00000569343,;NRG4,downstream_gene_variant,,ENST00000567467,;FBXO22,3_prime_UTR_variant,,ENST00000569022,;FBXO22,intron_variant,,ENST00000561885,;FBXO22,downstream_gene_variant,,ENST00000569749,;NRG4,downstream_gene_variant,,ENST00000566417,;	uc002bbk.2	c.920A>G	1025/3483	3	3			c.920A>G						15	SNP	c.(919-921)CAG>CGG	61	61				0	Broad	F-box only protein 22 isoform a			76225151		0.527	ENSG00000167196	5632	g.chr15:76225151A>G	ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity							236.573459	KEEP	38	41	-1	31	39	38	41	-1	236.724196	31	39	0.535211	1	0	0	0	0	1	0	0	0	--	--		0	G			FBXO22_uc002bbl.2_Missense_Mutation_p.Q203R|FBXO22OS_uc002bbm.1_RNA	200	GBM-27-2521-TP	p.Q307R	A	GCTGCGATGCAGCGCCTCAAA	NM_147188	NP_671717	76225151	Q8NEZ5	FBX22_HUMAN	0			7	1025	+	G	G			Missense_Mutation	307						
FBXO24	26261	broad.mit.edu	GRCh37	7	100197689	100197689	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0174-01	TCGA-06-0174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000427939.2:c.1356C>T	p.Cys452=	p.C452=	ENST00000427939	NM_012172.4	452	tgC/tgT	0			1			T	C	uc003uvm.1	protein_coding		CCDS5698.1			1242/1743									ovary(3)|skin(1)	4	c.(1240-1242)TGC>TGT			Superfamily_domains:SSF50985,Pfam_domain:PF00415,Gene3D:2.130.10.30,hmmpanther:PTHR12846:SF13,hmmpanther:PTHR12846,PROSITE_profiles:PS50012	F-box only protein 24 isoform 1				ENSP00000241071		10-Sep	1.65E-05					3.63E-05			rs772661530,COSM3411357,COSM3411356	10-Sep	.		ENST00000241071	Transcript				ubiquitin ligase complex	ubiquitin-protein ligase activity	ENSG00000106336	g.chr7:100197689C>T	13595			LOW								--	--	1																																		FBXO24_uc003uvn.1_Intron|uc011kjy.1_RNA|FBXO24_uc011kjz.1_Silent_p.C452C|FBXO24_uc011kka.1_Silent_p.C402C|PCOLCE_uc011kkb.1_5'Flank|PCOLCE_uc003uvo.2_5'Flank|PCOLCE_uc010lhb.1_5'Flank	0,1,1				p.C414C	NM_033506	NP_277041			0,1,1	FBX24_HUMAN	FBXO24	HGNC	O75426	FBX24_HUMAN			A4D2D3_HUMAN		9	1535	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		UPI000006DBF0	414			RCC1.		SNV	FBXO24,synonymous_variant,p.=,ENST00000241071,NM_033506.2;FBXO24,synonymous_variant,p.=,ENST00000427939,NM_012172.4;FBXO24,synonymous_variant,p.=,ENST00000468962,NM_001163499.1;FBXO24,3_prime_UTR_variant,,ENST00000360609,;PCOLCE,upstream_gene_variant,,ENST00000223061,NM_002593.3;FBXO24,downstream_gene_variant,,ENST00000465843,;PCOLCE-AS1,non_coding_transcript_exon_variant,,ENST00000442166,;PCOLCE-AS1,intron_variant,,ENST00000544873,;PCOLCE-AS1,downstream_gene_variant,,ENST00000446022,;PCOLCE,upstream_gene_variant,,ENST00000496269,;FBXO24,intron_variant,,ENST00000488079,;PCOLCE,upstream_gene_variant,,ENST00000487172,;PCOLCE,upstream_gene_variant,,ENST00000462260,;PCOLCE,upstream_gene_variant,,ENST00000482863,;PCOLCE,upstream_gene_variant,,ENST00000468214,;PCOLCE,upstream_gene_variant,,ENST00000460002,;PCOLCE,upstream_gene_variant,,ENST00000490909,;	uc003uvm.1	c.1242C>T	1564/2276	2	2			c.1242C>T						7	SNP	c.(1240-1242)TGC>TGT	21	21			ovary(3)|skin(1)	4	Broad	F-box only protein 24 isoform 1			100197689		0.692	ENSG00000106336	5633	g.chr7:100197689C>T		ubiquitin ligase complex	ubiquitin-protein ligase activity							14.437984	KEEP	4	5	-1	11	13	4	5	-1	15.98036	11	13	0.24	1	0	0	0	0	0	0	1	0	--	--		0	T			FBXO24_uc003uvn.1_Intron|uc011kjy.1_RNA|FBXO24_uc011kjz.1_Silent_p.C452C|FBXO24_uc011kka.1_Silent_p.C402C|PCOLCE_uc011kkb.1_5'Flank|PCOLCE_uc003uvo.2_5'Flank|PCOLCE_uc010lhb.1_5'Flank	37	GBM-06-0174-TP	p.C414C	C	CCCTGTGGTGCGGCCTCAACC	NM_033506	NP_277041	100197689	O75426	FBX24_HUMAN	0			9	1535	+	T	T	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		Silent	414			RCC1.			
FBXO24	26261	broad.mit.edu	GRCh37	7	100187923	100187923	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01	TCGA-06-0195-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000427939.2:c.379C>T	p.Arg127Cys	p.R127C	ENST00000427939	NM_012172.4	127	Cgc/Tgc	0		T:0	1	T:0.0014		T	R/C	uc003uvm.1	protein_coding		CCDS5698.1			265/1743									ovary(3)|skin(1)	4	c.(265-267)CGC>TGC			Superfamily_domains:SSF81383,hmmpanther:PTHR12846:SF13,hmmpanther:PTHR12846	F-box only protein 24 isoform 1		T:0		ENSP00000241071	T:0	10-Mar	4.12E-05		8.65E-05			6.01E-05			rs563719782,COSM3411355,COSM3411354	10-Mar	.		ENST00000241071	Transcript		T:0.0002		ubiquitin ligase complex	ubiquitin-protein ligase activity	ENSG00000106336	g.chr7:100187923C>T	13595			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=FBX24_HUMAN&rb=85&re=122&var=R89C	NA	getma.org/?cm=var&var=hg19,7,100187923,C,T&fts=all	R89C	--	--	1																																		FBXO24_uc010lha.1_RNA|FBXO24_uc003uvl.1_Missense_Mutation_p.R89C|FBXO24_uc003uvn.1_Intron|uc011kjy.1_RNA|FBXO24_uc011kjz.1_Missense_Mutation_p.R127C|FBXO24_uc011kka.1_Missense_Mutation_p.R77C	0,1,1			possibly_damaging(0.689)	p.R89C	NM_033506	NP_277041	T:0	deleterious_low_confidence(0.02)	0,1,1	FBX24_HUMAN	FBXO24	HGNC	O75426	FBX24_HUMAN			A4D2D3_HUMAN		3	558	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		UPI000006DBF0	89					SNV	FBXO24,missense_variant,p.Arg89Cys,ENST00000241071,NM_033506.2;FBXO24,missense_variant,p.Arg89Cys,ENST00000360609,;FBXO24,missense_variant,p.Arg127Cys,ENST00000427939,NM_012172.4;FBXO24,missense_variant,p.Arg77Cys,ENST00000468962,NM_001163499.1;FBXO24,missense_variant,p.Arg89Cys,ENST00000465843,;FBXO24,missense_variant,p.Arg112Cys,ENST00000461079,;FBXO24,missense_variant,p.Arg94Cys,ENST00000466053,;LRCH4,upstream_gene_variant,,ENST00000310300,NM_002319.3;PCOLCE-AS1,non_coding_transcript_exon_variant,,ENST00000442166,;PCOLCE-AS1,downstream_gene_variant,,ENST00000544873,;FBXO24,non_coding_transcript_exon_variant,,ENST00000498195,;FBXO24,non_coding_transcript_exon_variant,,ENST00000474649,;FBXO24,intron_variant,,ENST00000488079,;LRCH4,upstream_gene_variant,,ENST00000485583,;	uc003uvm.1	c.265C>T	587/2276	2	2			c.265C>T						7	SNP	c.(265-267)CGC>TGC	21	21			ovary(3)|skin(1)	4	Broad	F-box only protein 24 isoform 1			100187923		0.602	ENSG00000106336	5633	g.chr7:100187923C>T		ubiquitin ligase complex	ubiquitin-protein ligase activity							54.875449	KEEP	13	13	-1	43	44	13	13	-1	61.394496	43	44	0.235294	1	0	0	0	0	1	0	0	0	--	--		0	T			FBXO24_uc010lha.1_RNA|FBXO24_uc003uvl.1_Missense_Mutation_p.R89C|FBXO24_uc003uvn.1_Intron|uc011kjy.1_RNA|FBXO24_uc011kjz.1_Missense_Mutation_p.R127C|FBXO24_uc011kka.1_Missense_Mutation_p.R77C	45	GBM-06-0195-TP	p.R89C	C	ACTCAGTCCGCGCCTCCAAGA	NM_033506	NP_277041	100187923	O75426	FBX24_HUMAN	0			3	558	+	T	T	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		Missense_Mutation	89						
FBXO30	84085		GRCh37	6	146126547	146126547	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000237281.4:c.995C>T	p.Ala332Val	p.A332V	ENST00000237281	NM_032145.4	332	gCg/gTg	0																																																																																																																																																																																																																																												
FBXO31	0	broad.mit.edu	GRCh37	16	87368933	87368933	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01	TCGA-16-1045-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311635.7:c.973C>T	p.Arg325Cys	p.R325C	ENST00000311635	NM_024735.3	325	Cgt/Tgt	0		A:0	1	A:0.0014		A	R/C	uc002fjw.2	protein_coding	YES	CCDS32501.1			973/1620									lung(1)	1	c.(973-975)CGT>TGT			hmmpanther:PTHR10706,hmmpanther:PTHR10706:SF126	F-box protein 31		A:0		ENSP00000310841	A:0	9-Jul	2.47E-05		0.000173			1.52E-05			rs202184616,COSM3402534,COSM3402533	9-Jul	.		ENST00000311635	Transcript	1	A:0.0002	cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding	ENSG00000103264	g.chr16:87368933G>A	16510			MODERATE		-0.49	neutral	getma.org/?cm=msa&ty=f&p=FBX31_HUMAN&rb=314&re=513&var=R325C	NA	getma.org/?cm=var&var=hg19,16,87368933,G,A&fts=all	R325C	--	--	1																																		FBXO31_uc010vot.1_Missense_Mutation_p.R153C|FBXO31_uc002fjv.2_Missense_Mutation_p.R217C	0,1,1	1		benign(0.002)	p.R325C	NM_024735	NP_079011	A:0	tolerated(0.08)	0,1,1	FBX31_HUMAN	FBXO31	HGNC	Q5XUX0	FBX31_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	H3BUC7_HUMAN		7	1017	-			UPI000021D235	325					SNV	FBXO31,missense_variant,p.Arg325Cys,ENST00000311635,NM_024735.3,NM_001282683.1;RP11-178L8.4,upstream_gene_variant,,ENST00000568879,;FBXO31,downstream_gene_variant,,ENST00000563113,;FBXO31,intron_variant,,ENST00000565593,;	uc002fjw.2	c.973C>T	986/5934	1	1			c.973C>T						16	SNP	c.(973-975)CGT>TGT	50	50			lung(1)	1	Broad	F-box protein 31			87368933		0.662	ENSG00000103264	5639	g.chr16:87368933G>A	cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding							31.122779	KEEP	7	13	-1	42	50	7	13	-1	37.382478	42	50	0.194444	1	0	0	0	0	1	0	0	0	--	--		0	A			FBXO31_uc010vot.1_Missense_Mutation_p.R153C|FBXO31_uc002fjv.2_Missense_Mutation_p.R217C	157	GBM-16-1045-TP	p.R325C	G	CCCCTGGCACGCCGGCCGTGG	NM_024735	NP_079011	87368933	Q5XUX0	FBX31_HUMAN	0		BRCA - Breast invasive adenocarcinoma(80;0.0272)	7	1017	-	A	A			Missense_Mutation	325						
FBXO32	114907	broad.mit.edu	GRCh37	8	124518764	124518764	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0130-01	TCGA-06-0130-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000517956.1:c.702G>A	p.Leu234=	p.L234=	ENST00000517956	NM_058229.3	234	ctG/ctA	0			1			T	L	uc003yqr.2	protein_coding	YES	CCDS6345.1			702/1068									skin(3)|breast(2)|lung(1)	6	c.(700-702)CTG>CTA			hmmpanther:PTHR13123:SF6,hmmpanther:PTHR13123,Gene3D:1.20.1280.50,Superfamily_domains:SSF81383	F-box only protein 32 isoform 1				ENSP00000428205		9-Jul									COSM3412739	9-Jul	.		ENST00000517956	Transcript						ENSG00000156804	g.chr8:124518764C>T	16731			LOW								--	--	1																																		FBXO32_uc003yqq.2_Silent_p.L89L|FBXO32_uc010mdk.2_Silent_p.L141L	1	1			p.L234L	NM_058229	NP_478136			1	FBX32_HUMAN	FBXO32	HGNC	Q969P5	FBX32_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		Q498Y9_HUMAN,Q0VAQ6_HUMAN		7	894	-	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		UPI0000034E28	234			F-box.		SNV	FBXO32,synonymous_variant,p.=,ENST00000517956,NM_058229.3,NM_148177.2;FBXO32,synonymous_variant,p.=,ENST00000443022,NM_001242463.1;FBXO32,non_coding_transcript_exon_variant,,ENST00000287396,;FBXO32,non_coding_transcript_exon_variant,,ENST00000524000,;	uc003yqr.2	c.702G>A	894/6744	1	1			c.702G>A						8	SNP	c.(700-702)CTG>CTA	3	3			skin(3)|breast(2)|lung(1)	6	Broad	F-box only protein 32 isoform 1			124518764		0.622	ENSG00000156804	5640	g.chr8:124518764C>T										7.222859	KEEP	4	9	-1	41	72	4	9	-1	23.617881	41	72	0.104762	1	0	0	0	0	0	0	1	0	--	--		0	T			FBXO32_uc003yqq.2_Silent_p.L89L|FBXO32_uc010mdk.2_Silent_p.L141L	16	GBM-06-0130-TP	p.L234L	C	GCATGATGTTCAGTTGTAGGC	NM_058229	NP_478136	124518764	Q969P5	FBX32_HUMAN	0	STAD - Stomach adenocarcinoma(47;0.00288)		7	894	-	T	T	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		Silent	234			F-box.			
FBXO38	81545	broad.mit.edu	GRCh37	5	147784293	147784293	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-2563-01	TCGA-06-2563-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394370.3:c.638T>G	p.Leu213Arg	p.L213R	ENST00000394370		213	cTt/cGt	0			1			G	L/R	uc003lpf.1	protein_coding					638/3567									ovary(4)|skin(2)	6	c.(637-639)CTT>CGT			Gene3D:3.80.10.10,hmmpanther:PTHR14753,Superfamily_domains:SSF52047	F-box protein 38 isoform b				ENSP00000342023		22-Jun									COSM2152870	22-Jun	.		ENST00000340253	Transcript	1			cytoplasm|nucleus		ENSG00000145868	g.chr5:147784293T>G	28844			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=FBX38_HUMAN&rb=67&re=1186&var=L213R	NA	getma.org/?cm=var&var=hg19,5,147784293,T,G&fts=all	L213R	--	--	1																																		FBXO38_uc003lpg.1_Missense_Mutation_p.L213R|FBXO38_uc003lph.2_Missense_Mutation_p.L213R	1			probably_damaging(0.999)	p.L213R	NM_205836	NP_995308		deleterious(0)	1	FBX38_HUMAN	FBXO38	HGNC	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q6AZE0_HUMAN,A0PJ52_HUMAN		6	758	+			UPI000020CF2A	213					SNV	FBXO38,missense_variant,p.Leu213Arg,ENST00000340253,NM_030793.4;FBXO38,missense_variant,p.Leu213Arg,ENST00000394370,;FBXO38,missense_variant,p.Leu213Arg,ENST00000296701,NM_001271723.1;FBXO38,missense_variant,p.Leu213Arg,ENST00000513826,;FBXO38,non_coding_transcript_exon_variant,,ENST00000509699,;FBXO38,intron_variant,,ENST00000511080,;FBXO38,downstream_gene_variant,,ENST00000503613,;FBXO38,downstream_gene_variant,,ENST00000521160,;FBXO38,non_coding_transcript_exon_variant,,ENST00000502571,;FBXO38,downstream_gene_variant,,ENST00000508326,;FBXO38,downstream_gene_variant,,ENST00000502629,;	uc003lpf.1	c.638T>G	806/4424	4	4			c.638T>G						5	SNP	c.(637-639)CTT>CGT	28	28			ovary(4)|skin(2)	6	Broad	F-box protein 38 isoform b			147784293		0.348	ENSG00000145868	5644	g.chr5:147784293T>G		cytoplasm|nucleus								172.011777	KEEP	26	36	-1	33	36	26	36	-1	172.06146	33	36	0.477876	1	0	0	0	0	1	0	0	0	--	--		0	G			FBXO38_uc003lpg.1_Missense_Mutation_p.L213R|FBXO38_uc003lph.2_Missense_Mutation_p.L213R	86	GBM-06-2563-TP	p.L213R	T	CTAAGGCACCTTTATATGAAG	NM_205836	NP_995308	147784293	Q6PIJ6	FBX38_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	758	+	G	G			Missense_Mutation	213						
FBXO38	0	broad.mit.edu	GRCh37	5	147782003	147782003	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-12-3649-01	TCGA-12-3649-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340253.5:c.519A>G	p.Gly173=	p.G173=	ENST00000340253	NM_030793.4	173	ggA/ggG	0			1			G	G	uc003lpf.1	protein_coding					519/3567									ovary(4)|skin(2)	6	c.(517-519)GGA>GGG			Gene3D:3.80.10.10,hmmpanther:PTHR14753	F-box protein 38 isoform b				ENSP00000342023		22-May									COSM3409975	22-May	.		ENST00000340253	Transcript	1			cytoplasm|nucleus		ENSG00000145868	g.chr5:147782003A>G	28844			LOW								--	--	1																																		FBXO38_uc003lpg.1_Silent_p.G173G|FBXO38_uc003lph.2_Silent_p.G173G	1				p.G173G	NM_205836	NP_995308			1	FBX38_HUMAN	FBXO38	HGNC	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q6AZE0_HUMAN,A0PJ52_HUMAN		5	639	+			UPI000020CF2A	173					SNV	FBXO38,synonymous_variant,p.=,ENST00000340253,NM_030793.4;FBXO38,synonymous_variant,p.=,ENST00000394370,;FBXO38,synonymous_variant,p.=,ENST00000296701,NM_001271723.1;FBXO38,synonymous_variant,p.=,ENST00000513826,;FBXO38,non_coding_transcript_exon_variant,,ENST00000509699,;FBXO38,non_coding_transcript_exon_variant,,ENST00000521160,;FBXO38,intron_variant,,ENST00000511080,;FBXO38,downstream_gene_variant,,ENST00000503613,;FBXO38,non_coding_transcript_exon_variant,,ENST00000508326,;FBXO38,downstream_gene_variant,,ENST00000509411,;FBXO38,upstream_gene_variant,,ENST00000502571,;FBXO38,downstream_gene_variant,,ENST00000502629,;	uc003lpf.1	c.519A>G	687/4424	3	3			c.519A>G						5	SNP	c.(517-519)GGA>GGG	55	55			ovary(4)|skin(2)	6	Broad	F-box protein 38 isoform b			147782003		0.363	ENSG00000145868	5644	g.chr5:147782003A>G		cytoplasm|nucleus								-45.256976	KEEP	2	1	-1	111	91	2	1	-1	6.410119	111	91	0.015464	1	0	0	0	0	0	0	1	0	--	--		0	G			FBXO38_uc003lpg.1_Silent_p.G173G|FBXO38_uc003lph.2_Silent_p.G173G	125	GBM-12-3649-TP	p.G173G	A	ATCGTAATGGAGCTTTTCCAA	NM_205836	NP_995308	147782003	Q6PIJ6	FBX38_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	639	+	G	G			Silent	173						
FBXO38	0	broad.mit.edu	GRCh37	5	147781654	147781654	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0790-01	TCGA-14-0790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340253.5:c.372G>A	p.Glu124=	p.E124=	ENST00000340253	NM_030793.4	124	gaG/gaA	0			1			A	E	uc003lpf.1	protein_coding					372/3567									ovary(4)|skin(2)	6	c.(370-372)GAG>GAA			Gene3D:3.80.10.10,hmmpanther:PTHR14753	F-box protein 38 isoform b				ENSP00000342023		22-Apr									COSM3409974	22-Apr	.		ENST00000340253	Transcript	1			cytoplasm|nucleus		ENSG00000145868	g.chr5:147781654G>A	28844			LOW								--	--	1																																		FBXO38_uc003lpg.1_Silent_p.E124E|FBXO38_uc003lph.2_Silent_p.E124E	1				p.E124E	NM_205836	NP_995308			1	FBX38_HUMAN	FBXO38	HGNC	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q6AZE0_HUMAN,A0PJ52_HUMAN		4	492	+			UPI000020CF2A	124					SNV	FBXO38,synonymous_variant,p.=,ENST00000340253,NM_030793.4;FBXO38,synonymous_variant,p.=,ENST00000394370,;FBXO38,synonymous_variant,p.=,ENST00000296701,NM_001271723.1;FBXO38,synonymous_variant,p.=,ENST00000513826,;FBXO38,non_coding_transcript_exon_variant,,ENST00000509699,;FBXO38,non_coding_transcript_exon_variant,,ENST00000503613,;FBXO38,non_coding_transcript_exon_variant,,ENST00000521160,;FBXO38,intron_variant,,ENST00000511080,;FBXO38,non_coding_transcript_exon_variant,,ENST00000508326,;FBXO38,non_coding_transcript_exon_variant,,ENST00000502629,;FBXO38,downstream_gene_variant,,ENST00000509411,;FBXO38,upstream_gene_variant,,ENST00000502571,;	uc003lpf.1	c.372G>A	540/4424	2	2			c.372G>A						5	SNP	c.(370-372)GAG>GAA	29	29			ovary(4)|skin(2)	6	Broad	F-box protein 38 isoform b			147781654		0.448	ENSG00000145868	5644	g.chr5:147781654G>A		cytoplasm|nucleus								330.666019	KEEP	48	57	-1	62	60	48	57	-1	330.89947	62	60	0.464115	1	0	0	0	0	0	0	1	0	--	--		0	A			FBXO38_uc003lpg.1_Silent_p.E124E|FBXO38_uc003lph.2_Silent_p.E124E	137	GBM-14-0790-TP	p.E124E	G	GGGGCCATGAGGCTTTTAGCA	NM_205836	NP_995308	147781654	Q6PIJ6	FBX38_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	492	+	A	A			Silent	124						
FBXO38	0	broad.mit.edu	GRCh37	5	147796556	147796556	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C			TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340253.5:c.1408-1G>C		p.X470_splice	ENST00000340253	NM_030793.4			0			1			C		uc003lpf.1	protein_coding					1408/3567									ovary(4)|skin(2)	6	c.e12-1				F-box protein 38 isoform b				ENSP00000342023											COSM3409976		.		ENST00000340253	Transcript	1			cytoplasm|nucleus		ENSG00000145868	g.chr5:147796556G>C	28844			HIGH	21-Nov							--	--	1																																		FBXO38_uc003lpg.1_Splice_Site_p.G470_splice|FBXO38_uc003lph.2_Splice_Site_p.G470_splice	1				p.G470_splice	NM_205836	NP_995308			1	FBX38_HUMAN	FBXO38	HGNC	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q6AZE0_HUMAN,A0PJ52_HUMAN		12	1528	+			UPI000020CF2A						SNV	FBXO38,splice_acceptor_variant,,ENST00000340253,NM_030793.4;FBXO38,splice_acceptor_variant,,ENST00000394370,;FBXO38,splice_acceptor_variant,,ENST00000296701,NM_001271723.1;FBXO38,splice_acceptor_variant,,ENST00000513826,;FBXO38,splice_acceptor_variant,,ENST00000511080,;FBXO38,splice_acceptor_variant,,ENST00000508485,;FBXO38,downstream_gene_variant,,ENST00000509273,;FBXO38,downstream_gene_variant,,ENST00000508670,;	uc003lpf.1	c.1408_splice	-/4424	5	3			c.1408_splice						5	SNP	c.e12-1	57	57			ovary(4)|skin(2)	6	Broad	F-box protein 38 isoform b			147796556		0.363	ENSG00000145868	5644	g.chr5:147796556G>C		cytoplasm|nucleus								15.581761	KEEP	8	3	-1	46	40	8	3	-1	28.789717	46	40	0.11236	1	0	0	0	0	0	0	0	1	--	--		0	C			FBXO38_uc003lpg.1_Splice_Site_p.G470_splice|FBXO38_uc003lph.2_Splice_Site_p.G470_splice	240	GBM-32-2632-TP	p.G470_splice	G	TTTTGCCTTAGGGTTGTGCTC	NM_205836	NP_995308	147796556	Q6PIJ6	FBX38_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		12	1528	+	C	C			Splice_Site							
FBXO38	0	broad.mit.edu	GRCh37	5	147796638	147796638	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340253.5:c.1489G>C	p.Asp497His	p.D497H	ENST00000340253	NM_030793.4	497	Gac/Cac	0			1			C	D/H	uc003lpf.1	protein_coding					1489/3567									ovary(4)|skin(2)	6	c.(1489-1491)GAC>CAC			hmmpanther:PTHR14753,Low_complexity_(Seg):seg	F-box protein 38 isoform b				ENSP00000342023		22-Dec									COSM3409977	22-Dec	.		ENST00000340253	Transcript	1			cytoplasm|nucleus		ENSG00000145868	g.chr5:147796638G>C	28844			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=FBX38_HUMAN&rb=67&re=1186&var=D497H	NA	getma.org/?cm=var&var=hg19,5,147796638,G,C&fts=all	D497H	--	--	1																																		FBXO38_uc003lpg.1_Missense_Mutation_p.D497H|FBXO38_uc003lph.2_Missense_Mutation_p.D497H	1			probably_damaging(0.914)	p.D497H	NM_205836	NP_995308		deleterious(0.01)	1	FBX38_HUMAN	FBXO38	HGNC	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q6AZE0_HUMAN,A0PJ52_HUMAN		12	1609	+			UPI000020CF2A	497					SNV	FBXO38,missense_variant,p.Asp497His,ENST00000340253,NM_030793.4;FBXO38,missense_variant,p.Asp497His,ENST00000394370,;FBXO38,missense_variant,p.Asp497His,ENST00000296701,NM_001271723.1;FBXO38,missense_variant,p.Asp497His,ENST00000513826,;FBXO38,non_coding_transcript_exon_variant,,ENST00000511080,;FBXO38,non_coding_transcript_exon_variant,,ENST00000508485,;FBXO38,downstream_gene_variant,,ENST00000509273,;FBXO38,downstream_gene_variant,,ENST00000508670,;	uc003lpf.1	c.1489G>C	1657/4424	4	4			c.1489G>C						5	SNP	c.(1489-1491)GAC>CAC	36	36			ovary(4)|skin(2)	6	Broad	F-box protein 38 isoform b			147796638		0.453	ENSG00000145868	5644	g.chr5:147796638G>C		cytoplasm|nucleus								8.030267	KEEP	7	2	-1	42	43	7	2	-1	22.360204	42	43	0.093023	1	0	0	0	0	1	0	0	0	--	--		0	C			FBXO38_uc003lpg.1_Missense_Mutation_p.D497H|FBXO38_uc003lph.2_Missense_Mutation_p.D497H	240	GBM-32-2632-TP	p.D497H	G	CTCCAACAATGACGATAATAA	NM_205836	NP_995308	147796638	Q6PIJ6	FBX38_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		12	1609	+	C	C			Missense_Mutation	497						
FBXO38	0	broad.mit.edu	GRCh37	5	147807459	147807459	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-4935-01	TCGA-76-4935-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340253.5:c.2602C>A	p.Leu868Ile	p.L868I	ENST00000340253	NM_030793.4	868	Cta/Ata	0			1			A	L/I	uc003lpf.1	protein_coding					2602/3567									ovary(4)|skin(2)	6	c.(2602-2604)CTA>ATA			hmmpanther:PTHR14753	F-box protein 38 isoform b				ENSP00000342023		15/22									COSM3409979	15/22	.		ENST00000340253	Transcript	1			cytoplasm|nucleus		ENSG00000145868	g.chr5:147807459C>A	28844			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=FBX38_HUMAN&rb=67&re=1186&var=L868I	NA	getma.org/?cm=var&var=hg19,5,147807459,C,A&fts=all	L868I	--	--	1																																		FBXO38_uc003lpg.1_Intron|FBXO38_uc003lph.2_Intron	1			benign(0.341)	p.L868I	NM_205836	NP_995308		tolerated_low_confidence(0.1)	1	FBX38_HUMAN	FBXO38	HGNC	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q6AZE0_HUMAN,A0PJ52_HUMAN		15	2722	+			UPI000020CF2A	868					SNV	FBXO38,missense_variant,p.Leu868Ile,ENST00000340253,NM_030793.4;FBXO38,intron_variant,,ENST00000394370,;FBXO38,intron_variant,,ENST00000296701,NM_001271723.1;FBXO38,intron_variant,,ENST00000513826,;CTD-2283N19.1,downstream_gene_variant,,ENST00000520980,;FBXO38,intron_variant,,ENST00000505399,;FBXO38,downstream_gene_variant,,ENST00000514832,;	uc003lpf.1	c.2602C>A	2770/4424	1	1			c.2602C>A						5	SNP	c.(2602-2604)CTA>ATA	64	64			ovary(4)|skin(2)	6	Broad	F-box protein 38 isoform b			147807459		0.562	ENSG00000145868	5644	g.chr5:147807459C>A		cytoplasm|nucleus								-13.485548	KEEP	3	1	0.25	55	50	3	1	0.25	8.473284	55	50	0.041237	1	0	0	0	0	1	0	0	0	--	--		0	A			FBXO38_uc003lpg.1_Intron|FBXO38_uc003lph.2_Intron	273	GBM-76-4935-TP	p.L868I	C	TCGGAGGCCCCTAACCAGGGC	NM_205836	NP_995308	147807459	Q6PIJ6	FBX38_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		15	2722	+	A	A			Missense_Mutation	868						
FBXO41	0	broad.mit.edu	GRCh37	2	73493658	73493658	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-5132-01	TCGA-26-5132-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295133.5:c.1241C>T	p.Thr414Met	p.T414M	ENST00000295133	NM_001080410.2	414	aCg/aTg	0			1			A	T/M	uc002sjb.1	protein_coding					1241/2811									breast(2)|pancreas(1)	3	c.(1240-1242)ACG>ATG			hmmpanther:PTHR15739,hmmpanther:PTHR15739:SF4	F-box protein 41				ENSP00000295133		13-Mar	8.34E-06					2.47E-05			rs755442872,COSM3407972,COSM3407971	13-Mar	.		ENST00000295133	Transcript				intracellular	protein binding|zinc ion binding	ENSG00000163013	g.chr2:73493658G>A	29409			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=FBX41_HUMAN&rb=1&re=545&var=T353M	NA	getma.org/?cm=var&var=hg19,2,73493658,G,A&fts=all	T353M	--	--	1																																			0,1,1			possibly_damaging(0.88)	p.T414M	NM_001080410	NP_001073879		tolerated(0.07)	0,1,1		FBXO41	HGNC	Q8TF61	FBX41_HUMAN			J3KNB0_HUMAN,B3KXK3_HUMAN		3	1241	-			UPI0000DD7A18	353					SNV	FBXO41,missense_variant,p.Thr353Met,ENST00000521871,;FBXO41,missense_variant,p.Thr414Met,ENST00000295133,NM_001080410.2;FBXO41,missense_variant,p.Thr353Met,ENST00000520530,;FBXO41,downstream_gene_variant,,ENST00000520186,;FBXO41,non_coding_transcript_exon_variant,,ENST00000519873,;	uc002sjb.1	c.1241C>T	1241/7111	2	2			c.1241C>T						2	SNP	c.(1240-1242)ACG>ATG	41	41			breast(2)|pancreas(1)	3	Broad	F-box protein 41			73493658		0.692	ENSG00000163013	5648	g.chr2:73493658G>A		intracellular	protein binding|zinc ion binding							10.196051	KEEP	4	4	-1	11	7	4	4	-1	10.624143	11	7	0.307692	1	0	0	0	0	1	0	0	0	--	--		0	A				181	GBM-26-5132-TP	p.T414M	G	GGCGCTGGGCGTGCTGCCACA	NM_001080410	NP_001073879	73493658	Q8TF61	FBX41_HUMAN	0			3	1241	-	A	A			Missense_Mutation	353						
FBXO43	286151	broad.mit.edu	GRCh37	8	101153144	101153144	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-02-2483-01	TCGA-02-2483-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428847.2:c.1338A>C	p.Val446=	p.V446=	ENST00000428847	NM_001029860.3	446	gtA/gtC	0			1			G	V	uc003yjd.2	protein_coding	YES	CCDS47904.1			1338/2127									kidney(1)|skin(1)	2	c.(1336-1338)GTA>GTC			hmmpanther:PTHR15493,hmmpanther:PTHR15493:SF1	F-box protein 43 isoform b				ENSP00000403293		5-Feb									COSM3412607,COSM3412608,COSM3412606	5-Feb	.		ENST00000428847	Transcript			meiosis		zinc ion binding	ENSG00000156509	g.chr8:101153144T>G	28521			LOW								--	--	1																																		FBXO43_uc003yje.2_Silent_p.V412V|FBXO43_uc010mbp.1_Silent_p.V446V	1,1,1	1			p.V446V	NM_001029860	NP_001025031			1,1,1	FBX43_HUMAN	FBXO43	HGNC	Q4G163	FBX43_HUMAN	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)				2	2051	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		UPI000013DE8F	446					SNV	FBXO43,synonymous_variant,p.=,ENST00000428847,NM_001029860.3;FBXO43,3_prime_UTR_variant,,ENST00000517806,;FBXO43,non_coding_transcript_exon_variant,,ENST00000520987,;	uc003yjd.2	c.1338A>C	1655/2886	3	3			c.1338A>C						8	SNP	c.(1336-1338)GTA>GTC	1	1			kidney(1)|skin(1)	2	Broad	F-box protein 43 isoform b			101153144		0.433	ENSG00000156509	5650	g.chr8:101153144T>G	meiosis		zinc ion binding			303			303	-92.094181	KEEP	11	7	-1	275	288	11	7	-1	39.011648	275	288	0.032727	1	0	0	0	0	0	0	1	0	--	--		0	G			FBXO43_uc003yje.2_Silent_p.V412V|FBXO43_uc010mbp.1_Silent_p.V446V	6	GBM-02-2483-TP	p.V446V	T	ACAGCTCATGTACCAATTGCA	NM_001029860	NP_001025031	101153144	Q4G163	FBX43_HUMAN	0	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		2	2051	-	G	G	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Silent	446						
FBXO43	0	broad.mit.edu	GRCh37	8	101149805	101149805	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-19-5954-01	TCGA-19-5954-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428847.2:c.1662A>G	p.Lys554=	p.K554=	ENST00000428847	NM_001029860.3	554	aaA/aaG	0			1			C	K	uc003yjd.2	protein_coding	YES	CCDS47904.1			1662/2127									kidney(1)|skin(1)	2	c.(1660-1662)AAA>AAG			hmmpanther:PTHR15493,hmmpanther:PTHR15493:SF1	F-box protein 43 isoform b				ENSP00000403293		5-Mar									COSM2156739,COSM2156740,COSM2156738	5-Mar	.		ENST00000428847	Transcript			meiosis		zinc ion binding	ENSG00000156509	g.chr8:101149805T>C	28521			LOW								--	--	1																																		FBXO43_uc003yje.2_Silent_p.K520K|FBXO43_uc010mbp.1_Silent_p.K554K	1,1,1	1			p.K554K	NM_001029860	NP_001025031			1,1,1	FBX43_HUMAN	FBXO43	HGNC	Q4G163	FBX43_HUMAN	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)				3	2375	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		UPI000013DE8F	554					SNV	FBXO43,synonymous_variant,p.=,ENST00000428847,NM_001029860.3;FBXO43,3_prime_UTR_variant,,ENST00000517806,;FBXO43,non_coding_transcript_exon_variant,,ENST00000520987,;	uc003yjd.2	c.1662A>G	1979/2886	3	3			c.1662A>G						8	SNP	c.(1660-1662)AAA>AAG	16	16			kidney(1)|skin(1)	2	Broad	F-box protein 43 isoform b			101149805		0.308	ENSG00000156509	5650	g.chr8:101149805T>C	meiosis		zinc ion binding			303			303	65.415379	KEEP	10	9	-1	22	9	10	9	-1	65.955871	22	9	0.387755	1	0	0	0	0	0	0	1	0	--	--		0	C			FBXO43_uc003yje.2_Silent_p.K520K|FBXO43_uc010mbp.1_Silent_p.K554K	174	GBM-19-5954-TP	p.K554K	T	CAGAATCTGTTTTCAGTTGTG	NM_001029860	NP_001025031	101149805	Q4G163	FBX43_HUMAN	0	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		3	2375	-	C	C	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Silent	554						
FBXO44	93611	broad.mit.edu	GRCh37	1	11716011	11716011	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0939-01	TCGA-06-0939-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376770.1:c.119T>C	p.Leu40Pro	p.L40P	ENST00000376770	NM_001014765.1	40	cTc/cCc	0			1			C	L/P	uc001asm.2	protein_coding		CCDS132.1			119/768									ovary(1)	1	c.(118-120)CTC>CCC			Gene3D:1.20.1280.50,Pfam_domain:PF12937,PROSITE_profiles:PS50181,hmmpanther:PTHR12125,hmmpanther:PTHR12125:SF11,SMART_domains:SM00256,Superfamily_domains:SSF81383	F-box protein 44 isoform 1				ENSP00000251547		6-Feb									COSM3399580	6-Feb	.		ENST00000251547	Transcript			protein catabolic process	SCF ubiquitin ligase complex	protein binding	ENSG00000132879	g.chr1:11716011T>C	24847			MODERATE		3.63	high	getma.org/?cm=msa&ty=f&p=FBX44_HUMAN&rb=6&re=53&var=L40P	getma.org/pdb.php?prot=FBX44_HUMAN&from=6&to=53&var=L40P	getma.org/?cm=var&var=hg19,1,11716011,T,C&fts=all	L40P	--	--	1																																		FBXO2_uc001asj.2_5'Flank|FBXO2_uc009vna.2_5'Flank|FBXO2_uc009vnb.1_5'Flank|FBXO44_uc001ask.2_Missense_Mutation_p.L40P|FBXO44_uc010oaq.1_Missense_Mutation_p.L40P|FBXO44_uc001asl.2_Missense_Mutation_p.L40P|FBXO44_uc001asn.2_Missense_Mutation_p.L40P|FBXO44_uc010oar.1_Missense_Mutation_p.L40P|FBXO44_uc010oas.1_5'UTR	1			probably_damaging(0.989)	p.L40P	NM_033182	NP_149438		deleterious(0)	1	FBX44_HUMAN	FBXO44	HGNC	Q9H4M3	FBX44_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	B7Z1X4_HUMAN		2	245	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	UPI000013CD04	40			F-box.		SNV	FBXO44,missense_variant,p.Leu40Pro,ENST00000376770,NM_001014765.1;FBXO44,missense_variant,p.Leu40Pro,ENST00000251547,NM_033182.5;FBXO44,missense_variant,p.Leu40Pro,ENST00000251546,NM_183412.2;FBXO44,missense_variant,p.Leu40Pro,ENST00000376762,;FBXO44,missense_variant,p.Leu40Pro,ENST00000425796,;FBXO44,missense_variant,p.Leu40Pro,ENST00000376768,;FBXO44,missense_variant,p.Leu40Pro,ENST00000376760,;FBXO2,upstream_gene_variant,,ENST00000354287,NM_012168.5;FBXO44,upstream_gene_variant,,ENST00000475435,;FBXO44,upstream_gene_variant,,ENST00000471895,;FBXO2,upstream_gene_variant,,ENST00000465901,;FBXO2,upstream_gene_variant,,ENST00000475961,;FBXO2,upstream_gene_variant,,ENST00000466919,;	uc001asm.2	c.119T>C	201/2903	3	3			c.119T>C						1	SNP	c.(118-120)CTC>CCC	6	6			ovary(1)	1	Broad	F-box protein 44 isoform 1			11716011		0.632	ENSG00000132879	5651	g.chr1:11716011T>C	protein catabolic process	SCF ubiquitin ligase complex	protein binding							-18.689337	KEEP	0	4	-1	62	69	0	4	-1	6.728622	62	69	0.037383	1	0	0	0	0	1	0	0	0	--	--		0	C			FBXO2_uc001asj.2_5'Flank|FBXO2_uc009vna.2_5'Flank|FBXO2_uc009vnb.1_5'Flank|FBXO44_uc001ask.2_Missense_Mutation_p.L40P|FBXO44_uc010oaq.1_Missense_Mutation_p.L40P|FBXO44_uc001asl.2_Missense_Mutation_p.L40P|FBXO44_uc001asn.2_Missense_Mutation_p.L40P|FBXO44_uc010oar.1_Missense_Mutation_p.L40P|FBXO44_uc010oas.1_5'UTR	78	GBM-06-0939-TP	p.L40P	T	TGGCGGGACCTCATCGACCTC	NM_033182	NP_149438	11716011	Q9H4M3	FBX44_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	2	245	+	C	C	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	40			F-box.			
FBXO8	26269	broad.mit.edu	GRCh37	4	175180976	175180976	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A			TCGA-02-0047-01	TCGA-02-0047-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393674.2:c.330G>T		p.X110_splice	ENST00000393674	NM_012180.2	110	ggG/ggT	0			1			A	G	uc003itp.2	protein_coding	YES	CCDS3820.1			330/960									breast(2)	2	c.(328-330)GGG>GGT			PROSITE_profiles:PS50181,hmmpanther:PTHR10663,Gene3D:1.20.1280.50,Pfam_domain:PF12937,Superfamily_domains:SSF81383	F-box only protein 8				ENSP00000377280		6-Mar									COSM2148984	6-Mar	.		ENST00000393674	Transcript			regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity	ENSG00000164117	g.chr4:175180976C>A	13587			LOW								--	--	1																																		FBXO8_uc003itq.2_Silent_p.G69G	1	1			p.G110G	NM_012180	NP_036312			1	FBX8_HUMAN	FBXO8	HGNC	Q9NRD0	FBX8_HUMAN		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)	D6RIC0_HUMAN		3	1180	-		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)	UPI000012A588	110			F-box.		SNV	FBXO8,splice_region_variant,p.=,ENST00000393674,NM_012180.2;FBXO8,splice_region_variant,p.=,ENST00000503293,;FBXO8,splice_region_variant,p.=,ENST00000513696,;FBXO8,splice_region_variant,p.=,ENST00000515664,;	uc003itp.2	c.330G>T	1193/2577	1	1			c.330G>T						4	SNP	c.(328-330)GGG>GGT	59	59			breast(2)	2	Broad	F-box only protein 8			175180976		0.318	ENSG00000164117	5659	g.chr4:175180976C>A	regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity							68.794974	KEEP	14	20	0.588235294	54	72	14	20	0.588235294	79.327998	54	72	0.211679	1	0	0	0	0	0	0	1	0	--	--		0	A			FBXO8_uc003itq.2_Silent_p.G69G	3	GBM-02-0047-TP	p.G110G	C	ATTTGCACAACCTATAAAATC	NM_012180	NP_036312	175180976	Q9NRD0	FBX8_HUMAN	0		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)	3	1180	-	A	A		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)	Silent	110			F-box.			
FBXO8	0	broad.mit.edu	GRCh37	4	175160248	175160248	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-28-6450-01	TCGA-28-6450-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393674.2:c.669C>G	p.Ala223=	p.A223=	ENST00000393674	NM_012180.2	223	gcC/gcG	0			1			C	A	uc003itp.2	protein_coding	YES	CCDS3820.1			669/960									breast(2)	2	c.(667-669)GCC>GCG			PROSITE_profiles:PS50190,hmmpanther:PTHR10663,Pfam_domain:PF01369,Gene3D:1.10.1000.11,SMART_domains:SM00222,Superfamily_domains:SSF48425	F-box only protein 8				ENSP00000377280		6-May									COSM3409169	6-May	.		ENST00000393674	Transcript			regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity	ENSG00000164117	g.chr4:175160248G>C	13587			LOW								--	--	1																																		FBXO8_uc003itq.2_Silent_p.A182A	1	1			p.A223A	NM_012180	NP_036312			1	FBX8_HUMAN	FBXO8	HGNC	Q9NRD0	FBX8_HUMAN		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)	D6RIC0_HUMAN		5	1519	-		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)	UPI000012A588	223			SEC7.		SNV	FBXO8,synonymous_variant,p.=,ENST00000393674,NM_012180.2;FBXO8,synonymous_variant,p.=,ENST00000503293,;FBXO8,downstream_gene_variant,,ENST00000513696,;FBXO8,3_prime_UTR_variant,,ENST00000515664,;	uc003itp.2	c.669C>G	1532/2577	3	3			c.669C>G						4	SNP	c.(667-669)GCC>GCG	62	62			breast(2)	2	Broad	F-box only protein 8			175160248		0.398	ENSG00000164117	5659	g.chr4:175160248G>C	regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity							38.701388	KEEP	8	8	-1	25	19	8	8	-1	41.425742	25	19	0.267857	1	0	0	0	0	0	0	1	0	--	--		0	C			FBXO8_uc003itq.2_Silent_p.A182A	227	GBM-28-6450-TP	p.A223A	G	GCTCTTCAGGGGCATGGATAT	NM_012180	NP_036312	175160248	Q9NRD0	FBX8_HUMAN	0		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)	5	1519	-	C	C		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)	Silent	223			SEC7.			
FBXW10	0	broad.mit.edu	GRCh37	17	18651317	18651317	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01	TCGA-12-0615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395665.4:c.569C>T	p.Ala190Val	p.A190V	ENST00000395665		190	gCg/gTg	0			1			T	A/V	uc002guk.2	protein_coding	YES	CCDS11199.3			569/3159									ovary(1)	1	c.(568-570)GCG>GTG			hmmpanther:PTHR19872:SF7,hmmpanther:PTHR19872	F-box and WD-40 domain protein 10				ENSP00000379025		14-Feb									COSM2153473,COSM3402650	14-Feb	.		ENST00000395665	Transcript						ENSG00000171931	g.chr17:18651317C>T	1211			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=FBW10_HUMAN&rb=1&re=200&var=A190V	NA	getma.org/?cm=var&var=hg19,17,18651317,C,T&fts=all	A190V	--	--	1																																		FBXW10_uc002guj.2_Missense_Mutation_p.A190V|FBXW10_uc002gul.2_Missense_Mutation_p.A190V|FBXW10_uc010cqh.1_Missense_Mutation_p.A190V	1,1	1		benign(0.001)	p.A190V	NM_031456	NP_113644		tolerated(0.11)	1,1	FBW10_HUMAN	FBXW10	HGNC	Q5XX13	FBW10_HUMAN					2	801	+			UPI0000200B30	190			WD 1.		SNV	FBXW10,missense_variant,p.Ala190Val,ENST00000308799,;FBXW10,missense_variant,p.Ala190Val,ENST00000395667,NM_001267585.1;FBXW10,missense_variant,p.Ala190Val,ENST00000395665,;FBXW10,missense_variant,p.Ala190Val,ENST00000301938,NM_001267586.1;FBXW10,3_prime_UTR_variant,,ENST00000574478,;	uc002guk.2	c.569C>T	790/3431	2	2			c.569C>T						17	SNP	c.(568-570)GCG>GTG	26	26			ovary(1)	1	Broad	F-box and WD-40 domain protein 10			18651317		0.478	ENSG00000171931	5661	g.chr17:18651317C>T										73.392289	KEEP	23	16	-1	55	55	23	16	-1	76.320411	55	55	0.306818	1	0	0	0	0	1	0	0	0	--	--		0	T			FBXW10_uc002guj.2_Missense_Mutation_p.A190V|FBXW10_uc002gul.2_Missense_Mutation_p.A190V|FBXW10_uc010cqh.1_Missense_Mutation_p.A190V	117	GBM-12-0615-TP	p.A190V	C	TCCAAGTCTGCGACCTCACAA	NM_031456	NP_113644	18651317	Q5XX13	FBW10_HUMAN	0			2	801	+	T	T			Missense_Mutation	190			WD 1.			
FBXW7	0	broad.mit.edu	GRCh37	4	153244185	153244185	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs144247898		TCGA-14-0817-01	TCGA-14-0817-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281708.4:c.1972C>T	p.Arg658Ter	p.R658*	ENST00000281708	NM_033632.3	658	Cga/Tga	0			1			A	R/*	uc003ims.2	protein_coding	YES	CCDS3777.1			1972/2124	Mis|N|D|F				colorectal|endometrial|T-ALL			p.R658*(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	c.(1972-1974)CGA>TGA			Gene3D:2.130.10.10,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22844,hmmpanther:PTHR22844:SF116,SMART_domains:SM00320,Superfamily_domains:SSF50978	F-box and WD repeat domain containing 7 isoform				ENSP00000281708		12-Dec									COSM22967,COSM167199,COSM1427626,COSM167198,COSM167197	12-Dec	.		ENST00000281708	Transcript			interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	ENSG00000109670	g.chr4:153244185G>A	16712			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,4,153244185,G,A&fts=all	R658*	--	--	1																																		FBXW7_uc011cii.1_Nonsense_Mutation_p.R658*|FBXW7_uc003imt.2_Nonsense_Mutation_p.R658*|FBXW7_uc011cih.1_Nonsense_Mutation_p.R482*|FBXW7_uc003imq.2_Nonsense_Mutation_p.R578*|FBXW7_uc003imr.2_Nonsense_Mutation_p.R540*	1,1,1,1,1	1			p.R658*	NM_033632	NP_361014			1,1,1,1,1	FBXW7_HUMAN	FBXW7	HGNC	Q969H0	FBXW7_HUMAN			S4R3N3_HUMAN,H9CWI3_HUMAN,H9CWI2_HUMAN,G0Z2K0_HUMAN,A7BJS8_HUMAN		12	2121	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	UPI000007007E	658			WD 7.		SNV	FBXW7,stop_gained,p.Arg658Ter,ENST00000281708,NM_033632.3;FBXW7,stop_gained,p.Arg578Ter,ENST00000263981,NM_018315.4;FBXW7,stop_gained,p.Arg540Ter,ENST00000296555,NM_001013415.1;FBXW7,stop_gained,p.Arg658Ter,ENST00000603548,;FBXW7,stop_gained,p.Arg658Ter,ENST00000603841,;FBXW7,stop_gained,p.Arg482Ter,ENST00000393956,;RP11-461L13.3,upstream_gene_variant,,ENST00000603766,;RP11-461L13.5,upstream_gene_variant,,ENST00000605407,;FBXW7,non_coding_transcript_exon_variant,,ENST00000603821,;FBXW7,non_coding_transcript_exon_variant,,ENST00000604316,;FBXW7,downstream_gene_variant,,ENST00000604069,;	uc003ims.2	c.1972C>T	3202/4977	5	1			c.1972C>T	Mis|N|D|F				colorectal|endometrial|T-ALL	4	SNP	c.(1972-1974)CGA>TGA	55	55		p.R658*(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	Broad	F-box and WD repeat domain containing 7 isoform			153244185		0.473	ENSG00000109670	5667	g.chr4:153244185G>A	interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding			266			266	245.044643	KEEP	43	50	-1	85	72	43	50	-1	247.649227	85	72	0.383562	1	0	0	0	0	0	1	0	0	--	--		0	A			FBXW7_uc011cii.1_Nonsense_Mutation_p.R658*|FBXW7_uc003imt.2_Nonsense_Mutation_p.R658*|FBXW7_uc011cih.1_Nonsense_Mutation_p.R482*|FBXW7_uc003imq.2_Nonsense_Mutation_p.R578*|FBXW7_uc003imr.2_Nonsense_Mutation_p.R540*	139	GBM-14-0817-TP	p.R658*	G	ACTAGGTTTCGAATAAATTCA	NM_033632	NP_361014	153244185	Q969H0	FBXW7_HUMAN	0			12	2121	-	A	A	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	Nonsense_Mutation	658			WD 7.			
FCAMR	83953	broad.mit.edu	GRCh37	1	207135779	207135779	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324852.4:c.431G>A	p.Arg144His	p.R144H	ENST00000324852	NM_001170631.1	144	cGt/cAt	0	T:0	T:0	1	T:0		T	R/H	uc001hfa.3	protein_coding	YES	CCDS53468.1			431/1734									ovary(1)	1	c.(430-432)CGT>CAT			Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR11860,hmmpanther:PTHR11860:SF22,SMART_domains:SM00409,Superfamily_domains:SSF48726	Fc receptor, IgA, IgM, high affinity isoform 2		T:0	T:0.0001	ENSP00000316491	T:0	8-May	0.00015		8.70E-05	0.000116		0.000182		0.000244	rs374305028,COSM2149611,COSM2149610,COSM2149612	8-May	.		ENST00000324852	Transcript		T:0.0002		integral to membrane|plasma membrane	receptor activity	ENSG00000162897	g.chr1:207135779C>T	24692			MODERATE		2.655	medium	getma.org/?cm=msa&ty=f&p=FCAMR_HUMAN&rb=61&re=169&var=R99H	getma.org/pdb.php?prot=FCAMR_HUMAN&from=61&to=169&var=R99H	getma.org/?cm=var&var=hg19,1,207135779,C,T&fts=all	R99H	--	--	1																																		FCAMR_uc001hfb.2_Missense_Mutation_p.R144H|FCAMR_uc009xca.1_Missense_Mutation_p.R144H|FCAMR_uc001hfc.2_Missense_Mutation_p.R119H	0,1,1,1	1		possibly_damaging(0.768)	p.R144H	NM_001122980	NP_001116452	T:0.001	deleterious(0)	0,1,1,1		FCAMR	HGNC	Q8WWV6	FCAMR_HUMAN					5	931	-			UPI0000EE5E27	99			Extracellular (Potential).|Ig-like V-type.		SNV	FCAMR,missense_variant,p.Arg144His,ENST00000324852,NM_001170631.1;FCAMR,missense_variant,p.Arg144His,ENST00000400962,NM_001122979.2,NM_032029.4;FCAMR,missense_variant,p.Arg144His,ENST00000450945,;FCAMR,non_coding_transcript_exon_variant,,ENST00000488345,;FCAMR,non_coding_transcript_exon_variant,,ENST00000487149,;FCAMR,upstream_gene_variant,,ENST00000486178,;FCAMR,3_prime_UTR_variant,,ENST00000324863,;	uc001hfa.3	c.431G>A	906/2605	2	2			c.431G>A						1	SNP	c.(430-432)CGT>CAT	46	46			ovary(1)	1	Broad	Fc receptor, IgA, IgM, high affinity isoform 2			207135779		0.582	ENSG00000162897	5670	g.chr1:207135779C>T		integral to membrane|plasma membrane	receptor activity	Ovarian(199;1883 2142 16966 44409 45154)			Ovarian(199;1883 2142 16966 44409 45154)			74.495682	KEEP	14	12	-1	15	17	14	12	-1	74.598093	15	17	0.45283	1	0	0	0	0	1	0	0	0	--	--		0	T			FCAMR_uc001hfb.2_Missense_Mutation_p.R144H|FCAMR_uc009xca.1_Missense_Mutation_p.R144H|FCAMR_uc001hfc.2_Missense_Mutation_p.R119H	18	GBM-06-0137-TP	p.R144H	C	GGGCCCCAGACGGCACCAGTA	NM_001122980	NP_001116452	207135779	Q8WWV6	FCAMR_HUMAN	0			5	931	-	T	T			Missense_Mutation	99			Extracellular (Potential).|Ig-like V-type.			
FCAMR	83953		GRCh37	1	207140441	207140441	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000324852.4:c.125C>T	p.Ala42Val	p.A42V	ENST00000324852	NM_001170631.1	42	gCg/gTg	0																																																																																																																																																																																																																																												
FCAR	2204	broad.mit.edu	GRCh37	19	55385735	55385735	+	upstream_gene_variant	5'Flank	SNP	G	G	A			TCGA-06-0190-01	TCGA-06-0190-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.				ENST00000355524	NM_002000.2			0		A:0	1	A:0		A		uc002qhr.1	protein_coding	YES	CCDS12907.1			-/864									ovary(1)|skin(1)	2	c.(-12--8)CCGTG>CCATG	1			Fc alpha receptor isoform a precursor		A:0		ENSP00000347714	A:0		6.59E-05					3.00E-05		0.000363	rs549456933		.		ENST00000355524	Transcript		A:0.0002	immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	ENSG00000186431	g.chr19:55385735G>A	3608			MODIFIER								--	--	1																																		FCAR_uc002qhq.2_Translation_Start_Site|FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Translation_Start_Site|FCAR_uc010esi.1_Translation_Start_Site|FCAR_uc002qhu.1_Translation_Start_Site|FCAR_uc002qhv.1_Translation_Start_Site|FCAR_uc002qhw.1_Translation_Start_Site|FCAR_uc002qhx.1_Translation_Start_Site|FCAR_uc002qhy.1_Translation_Start_Site|FCAR_uc002qhz.1_Translation_Start_Site|FCAR_uc002qia.1_Translation_Start_Site		1				NM_002000	NP_001991	A:0.001			FCAR_HUMAN	FCAR	HGNC	P24071	FCAR_HUMAN		GBM - Glioblastoma multiforme(193;0.0443)	A5Y2F0_HUMAN		1	187	+			UPI000011B429						SNV	FCAR,5_prime_UTR_variant,,ENST00000391726,NM_133273.2;FCAR,upstream_gene_variant,,ENST00000355524,NM_002000.2;FCAR,upstream_gene_variant,,ENST00000469767,NM_133279.2;FCAR,upstream_gene_variant,,ENST00000391725,NM_133269.2;FCAR,upstream_gene_variant,,ENST00000359272,NM_133272.2;FCAR,upstream_gene_variant,,ENST00000391724,NM_133278.2;FCAR,upstream_gene_variant,,ENST00000391723,NM_133274.2;FCAR,upstream_gene_variant,,ENST00000345937,NM_133271.2;FCAR,upstream_gene_variant,,ENST00000353758,NM_133277.2;FCAR,upstream_gene_variant,,ENST00000482092,;FCAR,upstream_gene_variant,,ENST00000471750,;FCAR,upstream_gene_variant,,ENST00000472634,;FCAR,upstream_gene_variant,,ENST00000488066,;	uc002qhr.1	c.-10G>A	-/1483	2	2			c.-10G>A						19	SNP	c.(-12--8)CCGTG>CCATG	47	47			ovary(1)|skin(1)	2	Broad	Fc alpha receptor isoform a precursor			55385735		0.493	ENSG00000186431	5671	g.chr19:55385735G>A	immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity							108.531713	KEEP	23	34	-1	93	122	23	34	-1	128.373936	93	122	0.20332	1	0	0	0	0	0	0	0	0	--	--		0	A			FCAR_uc002qhq.2_Translation_Start_Site|FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Translation_Start_Site|FCAR_uc010esi.1_Translation_Start_Site|FCAR_uc002qhu.1_Translation_Start_Site|FCAR_uc002qhv.1_Translation_Start_Site|FCAR_uc002qhw.1_Translation_Start_Site|FCAR_uc002qhx.1_Translation_Start_Site|FCAR_uc002qhy.1_Translation_Start_Site|FCAR_uc002qhz.1_Translation_Start_Site|FCAR_uc002qia.1_Translation_Start_Site	43	GBM-06-0190-TP		G	GGCTGAGGCCGTGTCAGCACG	NM_002000	NP_001991	55385735	P24071	FCAR_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0443)	1	187	+	A	A			Translation_Start_Site							
FCAR	2204	broad.mit.edu	GRCh37	19	55385635	55385635	+	upstream_gene_variant	5'Flank	SNP	C	C	T			TCGA-14-0789-01	TCGA-14-0789-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.				ENST00000355524	NM_002000.2			0			1			T		uc002qhr.1	protein_coding	YES	CCDS12907.1			-/864									ovary(1)|skin(1)	2	c.(-112--108)GACGA>GATGA	101			Fc alpha receptor isoform a precursor				ENSP00000347714											rs754951151		.		ENST00000355524	Transcript			immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	ENSG00000186431	g.chr19:55385635C>T	3608			MODIFIER								--	--	1																																		FCAR_uc002qhq.2_Translation_Start_Site|FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Translation_Start_Site|FCAR_uc010esi.1_Translation_Start_Site|FCAR_uc002qhu.1_Translation_Start_Site|FCAR_uc002qhv.1_Translation_Start_Site|FCAR_uc002qhw.1_Translation_Start_Site|FCAR_uc002qhx.1_Translation_Start_Site|FCAR_uc002qhy.1_Translation_Start_Site|FCAR_uc002qhz.1_Translation_Start_Site|FCAR_uc002qia.1_Translation_Start_Site		1				NM_002000	NP_001991				FCAR_HUMAN	FCAR	HGNC	P24071	FCAR_HUMAN		GBM - Glioblastoma multiforme(193;0.0443)	A5Y2F0_HUMAN		1	87	+			UPI000011B429						SNV	FCAR,upstream_gene_variant,,ENST00000355524,NM_002000.2;FCAR,upstream_gene_variant,,ENST00000469767,NM_133279.2;FCAR,upstream_gene_variant,,ENST00000391725,NM_133269.2;FCAR,upstream_gene_variant,,ENST00000359272,NM_133272.2;FCAR,upstream_gene_variant,,ENST00000391724,NM_133278.2;FCAR,upstream_gene_variant,,ENST00000391723,NM_133274.2;FCAR,upstream_gene_variant,,ENST00000391726,NM_133273.2;FCAR,upstream_gene_variant,,ENST00000345937,NM_133271.2;FCAR,upstream_gene_variant,,ENST00000353758,NM_133277.2;FCAR,upstream_gene_variant,,ENST00000482092,;FCAR,upstream_gene_variant,,ENST00000471750,;FCAR,upstream_gene_variant,,ENST00000472634,;FCAR,upstream_gene_variant,,ENST00000488066,;	uc002qhr.1	c.-110C>T	-/1483	2	2			c.-110C>T						19	SNP	c.(-112--108)GACGA>GATGA	43	43			ovary(1)|skin(1)	2	Broad	Fc alpha receptor isoform a precursor			55385635		0.498	ENSG00000186431	5671	g.chr19:55385635C>T	immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity							29.437745	KEEP	7	9	-1	44	34	7	9	-1	39.113469	44	34	0.170213	1	0	0	0	0	0	0	0	0	--	--		0	T			FCAR_uc002qhq.2_Translation_Start_Site|FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Translation_Start_Site|FCAR_uc010esi.1_Translation_Start_Site|FCAR_uc002qhu.1_Translation_Start_Site|FCAR_uc002qhv.1_Translation_Start_Site|FCAR_uc002qhw.1_Translation_Start_Site|FCAR_uc002qhx.1_Translation_Start_Site|FCAR_uc002qhy.1_Translation_Start_Site|FCAR_uc002qhz.1_Translation_Start_Site|FCAR_uc002qia.1_Translation_Start_Site	136	GBM-14-0789-TP		C	AATTCCCTGACGAGGGGCTCT	NM_002000	NP_001991	55385635	P24071	FCAR_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0443)	1	87	+	T	T			Translation_Start_Site							
FCER1A	0	broad.mit.edu	GRCh37	1	159272655	159272655	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs142162478		TCGA-28-5209-01	TCGA-28-5209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368115.1:c.67G>A	p.Val23Met	p.V23M	ENST00000368115	NM_002001.3	23	Gtg/Atg	0	A:0.0005		1			A	V/M	uc001ftq.2	protein_coding	YES	CCDS1184.1			67/774									lung(2)|skin(2)|prostate(1)	5	c.(67-69)GTG>ATG			hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF12,Cleavage_site_(Signalp):SignalP-noTM	Fc fragment of IgE, high affinity I, receptor	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)		A:0	ENSP00000357097		6-Mar	2.47E-05	0.000288							rs142162478,COSM3399871	6-Mar	.		ENST00000368115	Transcript				integral to plasma membrane		ENSG00000179639	g.chr1:159272655G>A	3609			MODERATE		-0.715	neutral	getma.org/?cm=msa&ty=f&p=FCERA_HUMAN&rb=1&re=58&var=V23M	NA	getma.org/?cm=var&var=hg19,1,159272655,G,A&fts=all	V23M	--	--	1																																			0,1	1		benign(0.002)	p.V23M	NM_002001	NP_001992		tolerated(1)	0,1	FCERA_HUMAN	FCER1A	HGNC	P12319	FCERA_HUMAN			Q8WYP6_HUMAN		3	166	+	all_hematologic(112;0.0429)		UPI000002CFDB	23					SNV	FCER1A,missense_variant,p.Val23Met,ENST00000368115,NM_002001.3;FCER1A,missense_variant,p.Val23Met,ENST00000368114,;	uc001ftq.2	c.67G>A	166/1165	2	2			c.67G>A						1	SNP	c.(67-69)GTG>ATG	21	21			lung(2)|skin(2)|prostate(1)	5	Broad	Fc fragment of IgE, high affinity I, receptor		Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	159272655		0.463	ENSG00000179639	5672	g.chr1:159272655G>A		integral to plasma membrane								612.315346	KEEP	100	133	-1	156	144	100	133	-1	613.565957	156	144	0.443709	1	0	0	0	0	1	0	0	0	--	--		0	A				218	GBM-28-5209-TP	p.V23M	G	TCCAGATGGCGTGTTAGCAGG	NM_002001	NP_001992	159272655	P12319	FCERA_HUMAN	0			3	166	+	A	A	all_hematologic(112;0.0429)		Missense_Mutation	23						
FCER2	2208		GRCh37	19	7763247	7763247	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000346664.5:c.185G>A	p.Arg62Gln	p.R62Q	ENST00000346664	NM_001220500.1	62	cGg/cAg	0																																																																																																																																																																																																																																												
FCGBP	8857	broad.mit.edu	GRCh37	19	40368569	40368569	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0190-01	TCGA-06-0190-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221347.6:c.12779G>C	p.Arg4260Pro	p.R4260P	ENST00000221347	NM_003890.2	4260	cGg/cCg	0			1			G	R/P	uc002omp.3	protein_coding	YES	CCDS12546.1			12779/16218									ovary(4)|skin(4)|central_nervous_system(1)	9	c.(12778-12780)CGG>CCG			PROSITE_profiles:PS51233,hmmpanther:PTHR11339:SF244,hmmpanther:PTHR11339	Fc fragment of IgG binding protein precursor				ENSP00000221347		28/36									COSM3404228	28/36	.		ENST00000221347	Transcript				extracellular region	protein binding	ENSG00000090920	g.chr19:40368569C>G	13572			MODERATE		-0.655	neutral	getma.org/?cm=msa&ty=f&p=FCGBP_HUMAN&rb=4074&re=4297&var=R4260P	NA	getma.org/?cm=var&var=hg19,19,40368569,C,G&fts=all	R4260P	--	--	1																																			1	1		benign(0.162)	p.R4260P	NM_003890	NP_003881			1	FCGBP_HUMAN	FCGBP	HGNC	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)				28	12787	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		UPI00001B0455	4260			VWFD 10.		SNV	FCGBP,missense_variant,p.Arg4260Pro,ENST00000221347,NM_003890.2;	uc002omp.3	c.12779G>C	12787/16390	3	3			c.12779G>C						19	SNP	c.(12778-12780)CGG>CCG	54	54			ovary(4)|skin(4)|central_nervous_system(1)	9	Broad	Fc fragment of IgG binding protein precursor			40368569		0.662	ENSG00000090920	5676	g.chr19:40368569C>G		extracellular region	protein binding							12.307368	KEEP	13	14	-1	137	157	13	14	-1	32.324038	137	157	0.11194	1	0	0	0	0	1	0	0	0	--	--		0	G				43	GBM-06-0190-TP	p.R4260P	C	GCAGGACCCCCGACATTCGTC	NM_003890	NP_003881	40368569	Q9Y6R7	FCGBP_HUMAN	0	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		28	12787	-	G	G	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Missense_Mutation	4260			VWFD 10.			
FCGBP	8857	broad.mit.edu	GRCh37	19	40419695	40419695	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0238-01	TCGA-06-0238-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221347.6:c.3299G>A	p.Gly1100Asp	p.G1100D	ENST00000221347	NM_003890.2	1100	gGc/gAc	0			1			T	G/D	uc002omp.3	protein_coding	YES	CCDS12546.1			3299/16218									ovary(4)|skin(4)|central_nervous_system(1)	9	c.(3298-3300)GGC>GAC			hmmpanther:PTHR11339:SF244,hmmpanther:PTHR11339,Pfam_domain:PF08742,SMART_domains:SM00832	Fc fragment of IgG binding protein precursor				ENSP00000221347		Jun-36									COSM3404231	Jun-36	.		ENST00000221347	Transcript				extracellular region	protein binding	ENSG00000090920	g.chr19:40419695C>T	13572			MODERATE		1.725	low	getma.org/?cm=msa&ty=f&p=FCGBP_HUMAN&rb=1058&re=1133&var=G1100D	NA	getma.org/?cm=var&var=hg19,19,40419695,C,T&fts=all	G1100D	--	--	1																																			1	1		probably_damaging(1)	p.G1100D	NM_003890	NP_003881			1	FCGBP_HUMAN	FCGBP	HGNC	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)				6	3307	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		UPI00001B0455	1100					SNV	FCGBP,missense_variant,p.Gly1100Asp,ENST00000221347,NM_003890.2;	uc002omp.3	c.3299G>A	3307/16390	2	2			c.3299G>A						19	SNP	c.(3298-3300)GGC>GAC	30	30			ovary(4)|skin(4)|central_nervous_system(1)	9	Broad	Fc fragment of IgG binding protein precursor			40419695		0.647	ENSG00000090920	5676	g.chr19:40419695C>T		extracellular region	protein binding							5.689533	KEEP	10	5	-1	87	64	10	5	-1	27.231336	87	64	0.097744	1	0	0	0	0	1	0	0	0	--	--		0	T				55	GBM-06-0238-TP	p.G1100D	C	CCCAGACTGGCCTGGCAGCAG	NM_003890	NP_003881	40419695	Q9Y6R7	FCGBP_HUMAN	0	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		6	3307	-	T	T	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Missense_Mutation	1100						
FCGBP	8857	broad.mit.edu	GRCh37	19	40432968	40432968	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs142198641	byFrequency	TCGA-06-0650-01	TCGA-06-0650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221347.6:c.1301G>A	p.Arg434Gln	p.R434Q	ENST00000221347	NM_003890.2	434	cGg/cAg	0	T:0.0007	T:0.0008	1	T:0		T	R/Q	uc002omp.3	protein_coding	YES	CCDS12546.1			1301/16218									ovary(4)|skin(4)|central_nervous_system(1)	9	c.(1300-1302)CGG>CAG				Fc fragment of IgG binding protein precursor		T:0	T:0	ENSP00000221347	T:0	Feb-36	0.000136	0.000982	8.72E-05					0.000444	rs142198641,COSM3404232	Feb-36	common_variant		ENST00000221347	Transcript		T:0.0004		extracellular region	protein binding	ENSG00000090920	g.chr19:40432968C>T	13572			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=FCGBP_HUMAN&rb=410&re=471&var=R434Q	NA	getma.org/?cm=var&var=hg19,19,40432968,C,T&fts=all	R434Q	--	--	1																																			0,1	1		benign(0.019)	p.R434Q	NM_003890	NP_003881	T:0.001		0,1	FCGBP_HUMAN	FCGBP	HGNC	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)				2	1309	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		UPI00001B0455	434			IgGFc-binding.		SNV	FCGBP,missense_variant,p.Arg434Gln,ENST00000221347,NM_003890.2;	uc002omp.3	c.1301G>A	1309/16390	2	2			c.1301G>A						19	SNP	c.(1300-1302)CGG>CAG	46	46			ovary(4)|skin(4)|central_nervous_system(1)	9	Broad	Fc fragment of IgG binding protein precursor			40432968		0.587	ENSG00000090920	5676	g.chr19:40432968C>T		extracellular region	protein binding							36.079381	KEEP	5	15	-1	37	54	5	15	-1	45.719604	37	54	0.170213	1	0	0	0	0	1	0	0	0	--	--		0	T				63	GBM-06-0650-TP	p.R434Q	C	TTACTTACTCCGGCCGCAATC	NM_003890	NP_003881	40432968	Q9Y6R7	FCGBP_HUMAN	0	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	1309	-	T	T	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Missense_Mutation	434			IgGFc-binding.			
FCGBP	8857	broad.mit.edu	GRCh37	19	40376323	40376323	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0881-01	TCGA-06-0881-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221347.6:c.11981T>C	p.Val3994Ala	p.V3994A	ENST00000221347	NM_003890.2	3994	gTc/gCc	0			1			G	V/A	uc002omp.3	protein_coding	YES	CCDS12546.1			11981/16218									ovary(4)|skin(4)|central_nervous_system(1)	9	c.(11980-11982)GTC>GCC			hmmpanther:PTHR11339:SF244,hmmpanther:PTHR11339,Gene3D:2.10.25.10,Pfam_domain:PF12714,SMART_domains:SM00215,SMART_domains:SM00214	Fc fragment of IgG binding protein precursor				ENSP00000221347		25/36	5.77E-05	0.000195				3.02E-05		6.07E-05	rs377439998,COSM123143	25/36	.		ENST00000221347	Transcript				extracellular region	protein binding	ENSG00000090920	g.chr19:40376323A>G	13572			MODERATE		0.58	neutral	getma.org/?cm=msa&ty=f&p=FCGBP_HUMAN&rb=3987&re=4042&var=V3994A	NA	getma.org/?cm=var&var=hg19,19,40376323,A,G&fts=all	V3994A	--	--	1																																			0,1	1		benign(0.418)	p.V3994A	NM_003890	NP_003881			0,1	FCGBP_HUMAN	FCGBP	HGNC	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)				25	11989	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		UPI00001B0455	3994			Cys-rich.		SNV	FCGBP,missense_variant,p.Val3994Ala,ENST00000221347,NM_003890.2;FCGBP,downstream_gene_variant,,ENST00000595713,;	uc002omp.3	c.11981T>C	11989/16390	3	3			c.11981T>C						19	SNP	c.(11980-11982)GTC>GCC	64	64			ovary(4)|skin(4)|central_nervous_system(1)	9	Broad	Fc fragment of IgG binding protein precursor			40376323		0.557	ENSG00000090920	5676	g.chr19:40376323A>G		extracellular region	protein binding							-9.53607	KEEP	2	2	-1	60	45	2	2	-1	7.84492	60	45	0.039474	1	0	0	0	0	1	0	0	0	--	--		0	G				76	GBM-06-0881-TP	p.V3994A	A	CTCATAGTAGACACCATTGTG	NM_003890	NP_003881	40376323	Q9Y6R7	FCGBP_HUMAN	0	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		25	11989	-	G	G	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Missense_Mutation	3994			Cys-rich.			
FCGBP	8857	broad.mit.edu	GRCh37	19	40396029	40396029	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5859-01	TCGA-06-5859-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221347.6:c.7368G>A	p.Ser2456=	p.S2456=	ENST00000221347	NM_003890.2	2456	tcG/tcA	0		T:0.0008	1	T:0		T	S	uc002omp.3	protein_coding	YES	CCDS12546.1			7368/16218									ovary(4)|skin(4)|central_nervous_system(1)	9	c.(7366-7368)TCG>TCA			PROSITE_profiles:PS51233,hmmpanther:PTHR11339:SF244,hmmpanther:PTHR11339,Pfam_domain:PF00094,SMART_domains:SM00215,SMART_domains:SM00216	Fc fragment of IgG binding protein precursor		T:0		ENSP00000221347	T:0	15/36	4.55E-05	9.93E-05	0.000332	0.000122					rs587716286,COSM2153401	15/36	.		ENST00000221347	Transcript		T:0.0002		extracellular region	protein binding	ENSG00000090920	g.chr19:40396029C>T	13572			LOW								--	--	1																																			0,1	1			p.S2456S	NM_003890	NP_003881	T:0		0,1	FCGBP_HUMAN	FCGBP	HGNC	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)				15	7376	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		UPI00001B0455	2456			VWFD 6.		SNV	FCGBP,synonymous_variant,p.=,ENST00000221347,NM_003890.2;FCGBP,intron_variant,,ENST00000601713,;	uc002omp.3	c.7368G>A	7376/16390	1	1			c.7368G>A						19	SNP	c.(7366-7368)TCG>TCA	10	10			ovary(4)|skin(4)|central_nervous_system(1)	9	Broad	Fc fragment of IgG binding protein precursor			40396029		0.682	ENSG00000090920	5676	g.chr19:40396029C>T		extracellular region	protein binding							37.121104	KEEP	15	12	-1	53	50	15	12	-1	46.526854	53	50	0.186275	1	0	0	0	0	0	0	1	0	--	--		0	T				103	GBM-06-5859-TP	p.S2456S	C	GGGGATCTCCCGACGCCTGGC	NM_003890	NP_003881	40396029	Q9Y6R7	FCGBP_HUMAN	0	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		15	7376	-	T	T	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Silent	2456			VWFD 6.			
FCGBP	0	broad.mit.edu	GRCh37	19	40411954	40411954	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-6391-01	TCGA-06-6391-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221347.6:c.3674A>G	p.Glu1225Gly	p.E1225G	ENST00000221347	NM_003890.2	1225	gAg/gGg	0			1			C	E/G	uc002omp.3	protein_coding	YES	CCDS12546.1			3674/16218									ovary(4)|skin(4)|central_nervous_system(1)	9	c.(3673-3675)GAG>GGG			hmmpanther:PTHR11339:SF244,hmmpanther:PTHR11339,Pfam_domain:PF12714,SMART_domains:SM00215,SMART_domains:SM00214	Fc fragment of IgG binding protein precursor				ENSP00000221347		Jul-36										Jul-36	.		ENST00000221347	Transcript				extracellular region	protein binding	ENSG00000090920	g.chr19:40411954T>C	13572			MODERATE		1.95	medium	getma.org/?cm=msa&ty=f&p=FCGBP_HUMAN&rb=1190&re=1245&var=E1225G	NA	getma.org/?cm=var&var=hg19,19,40411954,T,C&fts=all	E1225G	--	--	1																																				1		probably_damaging(0.964)	p.E1225G	NM_003890	NP_003881				FCGBP_HUMAN	FCGBP	HGNC	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)				7	3682	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		UPI00001B0455	1225			Cys-rich.		SNV	FCGBP,missense_variant,p.Glu1225Gly,ENST00000221347,NM_003890.2;FCGBP,upstream_gene_variant,,ENST00000601713,;	uc002omp.3	c.3674A>G	3682/16390	3	3			c.3674A>G						19	SNP	c.(3673-3675)GAG>GGG	53	53			ovary(4)|skin(4)|central_nervous_system(1)	9	Broad	Fc fragment of IgG binding protein precursor			40411954		0.677	ENSG00000090920	5676	g.chr19:40411954T>C		extracellular region	protein binding							-9.735017	KEEP	1	3	-1	38	35	1	3	-1	6.521125	38	35	0.041667	1	0	0	0	0	1	0	0	0	--	--		0	C				107	GBM-06-6391-TP	p.E1225G	T	GCTGGAGGACTCACAGGACAC	NM_003890	NP_003881	40411954	Q9Y6R7	FCGBP_HUMAN	0	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		7	3682	-	C	C	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Missense_Mutation	1225			Cys-rich.			
FCGBP	0	broad.mit.edu	GRCh37	19	40380305	40380305	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0688-01	TCGA-12-0688-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221347.6:c.11010C>T	p.Phe3670=	p.F3670=	ENST00000221347	NM_003890.2	3670	ttC/ttT	0			1			A	F	uc002omp.3	protein_coding	YES	CCDS12546.1			11010/16218									ovary(4)|skin(4)|central_nervous_system(1)	9	c.(11008-11010)TTC>TTT			PROSITE_profiles:PS51233,hmmpanther:PTHR11339:SF244,hmmpanther:PTHR11339,Pfam_domain:PF00094,SMART_domains:SM00215,SMART_domains:SM00216	Fc fragment of IgG binding protein precursor				ENSP00000221347		23/36	1.33E-05				0.000238				rs780900289,COSM2153899	23/36	.		ENST00000221347	Transcript				extracellular region	protein binding	ENSG00000090920	g.chr19:40380305G>A	13572			LOW								--	--	1																																			0,1	1			p.F3670F	NM_003890	NP_003881			0,1	FCGBP_HUMAN	FCGBP	HGNC	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)				23	11018	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		UPI00001B0455	3670			VWFD 9.		SNV	FCGBP,synonymous_variant,p.=,ENST00000221347,NM_003890.2;FCGBP,upstream_gene_variant,,ENST00000595713,;	uc002omp.3	c.11010C>T	11018/16390	2	2			c.11010C>T						19	SNP	c.(11008-11010)TTC>TTT	22	22			ovary(4)|skin(4)|central_nervous_system(1)	9	Broad	Fc fragment of IgG binding protein precursor			40380305		0.672	ENSG00000090920	5676	g.chr19:40380305G>A		extracellular region	protein binding							98.556287	KEEP	30	23	-1	103	109	30	23	-1	116.37462	103	109	0.204545	1	0	0	0	0	0	0	1	0	--	--		0	A				121	GBM-12-0688-TP	p.F3670F	G	CCATGAAGTCGAAGCGGTGGC	NM_003890	NP_003881	40380305	Q9Y6R7	FCGBP_HUMAN	0	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		23	11018	-	A	A	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Silent	3670			VWFD 9.			
FCGBP	0	broad.mit.edu	GRCh37	19	40376645	40376645	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-14-0781-01	TCGA-14-0781-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221347.6:c.11777A>C	p.Asn3926Thr	p.N3926T	ENST00000221347	NM_003890.2	3926	aAt/aCt	0			1			G	N/T	uc002omp.3	protein_coding	YES	CCDS12546.1			11777/16218									ovary(4)|skin(4)|central_nervous_system(1)	9	c.(11776-11778)AAT>ACT			hmmpanther:PTHR11339:SF244,hmmpanther:PTHR11339,Pfam_domain:PF08742,SMART_domains:SM00832	Fc fragment of IgG binding protein precursor				ENSP00000221347		24/36	5.05E-05	0.000309							rs773341125,COSM3404229	24/36	.		ENST00000221347	Transcript				extracellular region	protein binding	ENSG00000090920	g.chr19:40376645T>G	13572			MODERATE		-0.25	neutral	getma.org/?cm=msa&ty=f&p=FCGBP_HUMAN&rb=3856&re=3931&var=N3926T	NA	getma.org/?cm=var&var=hg19,19,40376645,T,G&fts=all	N3926T	--	--	1																																			0,1	1		benign(0)	p.N3926T	NM_003890	NP_003881			0,1	FCGBP_HUMAN	FCGBP	HGNC	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)				24	11785	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		UPI00001B0455	3926					SNV	FCGBP,missense_variant,p.Asn3926Thr,ENST00000221347,NM_003890.2;FCGBP,downstream_gene_variant,,ENST00000595713,;	uc002omp.3	c.11777A>C	11785/16390	4	4			c.11777A>C						19	SNP	c.(11776-11778)AAT>ACT	18	18			ovary(4)|skin(4)|central_nervous_system(1)	9	Broad	Fc fragment of IgG binding protein precursor			40376645		0.627	ENSG00000090920	5676	g.chr19:40376645T>G		extracellular region	protein binding							-31.117765	KEEP	4	5	-1	113	171	4	5	-1	21.884237	113	171	0.038961	1	0	0	0	0	1	0	0	0	--	--		0	G				133	GBM-14-0781-TP	p.N3926T	T	GAAAGTTTCATTCCTCCAGGG	NM_003890	NP_003881	40376645	Q9Y6R7	FCGBP_HUMAN	0	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		24	11785	-	G	G	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Missense_Mutation	3926						
FCGBP	0	broad.mit.edu	GRCh37	19	40364217	40364217	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221347.6:c.14425C>T	p.Pro4809Ser	p.P4809S	ENST00000221347	NM_003890.2	4809	Ccg/Tcg	0			1			A	P/S	uc002omp.3	protein_coding	YES	CCDS12546.1			14425/16218									ovary(4)|skin(4)|central_nervous_system(1)	9	c.(14425-14427)CCG>TCG			Pfam_domain:PF12714,SMART_domains:SM00215	Fc fragment of IgG binding protein precursor				ENSP00000221347		31/36									COSM3404227	31/36	.		ENST00000221347	Transcript				extracellular region	protein binding	ENSG00000090920	g.chr19:40364217G>A	13572			MODERATE		2.975	medium	getma.org/?cm=msa&ty=f&p=FCGBP_HUMAN&rb=4793&re=4849&var=P4809S	NA	getma.org/?cm=var&var=hg19,19,40364217,G,A&fts=all	P4809S	--	--	1																																			1	1		probably_damaging(0.997)	p.P4809S	NM_003890	NP_003881			1	FCGBP_HUMAN	FCGBP	HGNC	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)				31	14433	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		UPI00001B0455	4809					SNV	FCGBP,missense_variant,p.Pro4809Ser,ENST00000221347,NM_003890.2;	uc002omp.3	c.14425C>T	14433/16390	2	2			c.14425C>T						19	SNP	c.(14425-14427)CCG>TCG	28	28			ovary(4)|skin(4)|central_nervous_system(1)	9	Broad	Fc fragment of IgG binding protein precursor			40364217		0.657	ENSG00000090920	5676	g.chr19:40364217G>A		extracellular region	protein binding							33.915545	KEEP	11	14	-1	55	43	11	14	-1	43.7803	55	43	0.173469	1	0	0	0	0	1	0	0	0	--	--		0	A				162	GBM-19-2620-TP	p.P4809S	G	TCAGGGCCCGGGTAGAAGACC	NM_003890	NP_003881	40364217	Q9Y6R7	FCGBP_HUMAN	0	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		31	14433	-	A	A	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Missense_Mutation	4809						
FCGBP	0	broad.mit.edu	GRCh37	19	40395990	40395990	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-5139-01	TCGA-26-5139-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221347.6:c.7407C>T	p.Phe2469=	p.F2469=	ENST00000221347	NM_003890.2	2469	ttC/ttT	0			1			A	F	uc002omp.3	protein_coding	YES	CCDS12546.1			7407/16218									ovary(4)|skin(4)|central_nervous_system(1)	9	c.(7405-7407)TTC>TTT			PROSITE_profiles:PS51233,hmmpanther:PTHR11339:SF244,hmmpanther:PTHR11339,Pfam_domain:PF00094,SMART_domains:SM00215,SMART_domains:SM00216	Fc fragment of IgG binding protein precursor				ENSP00000221347		15/36	7.16E-05	9.82E-05			0.000545	5.15E-05	0.00123		rs782010001,COSM3404230	15/36	common_variant		ENST00000221347	Transcript				extracellular region	protein binding	ENSG00000090920	g.chr19:40395990G>A	13572			LOW								--	--	1																																			0,1	1			p.F2469F	NM_003890	NP_003881			0,1	FCGBP_HUMAN	FCGBP	HGNC	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)				15	7415	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		UPI00001B0455	2469			VWFD 6.		SNV	FCGBP,synonymous_variant,p.=,ENST00000221347,NM_003890.2;FCGBP,intron_variant,,ENST00000601713,;	uc002omp.3	c.7407C>T	7415/16390	2	2			c.7407C>T						19	SNP	c.(7405-7407)TTC>TTT	35	35			ovary(4)|skin(4)|central_nervous_system(1)	9	Broad	Fc fragment of IgG binding protein precursor			40395990		0.672	ENSG00000090920	5676	g.chr19:40395990G>A		extracellular region	protein binding							4.985971	KEEP	14	18	-1	132	145	14	18	-1	39.668151	132	145	0.100917	1	0	0	0	0	0	0	1	0	--	--		0	A				186	GBM-26-5139-TP	p.F2469F	G	CCATGAAGTCGAAGCGGCGGC	NM_003890	NP_003881	40395990	Q9Y6R7	FCGBP_HUMAN	0	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		15	7415	-	A	A	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Silent	2469			VWFD 6.			
FCGBP	0	broad.mit.edu	GRCh37	19	40360855	40360855	+	splice_donor_variant	Splice_Site	SNP	C	C	A			TCGA-28-5207-01	TCGA-28-5207-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221347.6:c.15552+1G>T		p.X5184_splice	ENST00000221347	NM_003890.2			0			1			A		uc002omp.3	protein_coding	YES	CCDS12546.1			15552/16218									ovary(4)|skin(4)|central_nervous_system(1)	9	c.e33+1				Fc fragment of IgG binding protein precursor				ENSP00000221347											COSM2157348		.		ENST00000221347	Transcript				extracellular region	protein binding	ENSG00000090920	g.chr19:40360855C>A	13572			HIGH	33/35							--	--	1																																			1	1			p.P5184_splice	NM_003890	NP_003881			1	FCGBP_HUMAN	FCGBP	HGNC	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)				33	15560	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		UPI00001B0455						SNV	FCGBP,splice_donor_variant,,ENST00000221347,NM_003890.2;	uc002omp.3	c.15552_splice	-/16390	5	2			c.15552_splice						19	SNP	c.e33+1	43	43			ovary(4)|skin(4)|central_nervous_system(1)	9	Broad	Fc fragment of IgG binding protein precursor			40360855		0.577	ENSG00000090920	5676	g.chr19:40360855C>A		extracellular region	protein binding							89.04498	KEEP	20	13	0.393939394	27	38	20	13	0.393939394	90.708361	27	38	0.349398	1	0	0	0	0	0	0	0	1	--	--		0	A				216	GBM-28-5207-TP	p.P5184_splice	C	CCCCTACTCACCGGCAAGTAT	NM_003890	NP_003881	40360855	Q9Y6R7	FCGBP_HUMAN	0	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		33	15560	-	A	A	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Splice_Site							
FCGBP	0	broad.mit.edu	GRCh37	19	40384053	40384053	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-5222-01	TCGA-32-5222-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221347.6:c.9557A>G	p.Glu3186Gly	p.E3186G	ENST00000221347	NM_003890.2	3186	gAg/gGg	0			1			C	E/G	uc002omp.3	protein_coding	YES	CCDS12546.1			9557/16218									ovary(4)|skin(4)|central_nervous_system(1)	9	c.(9556-9558)GAG>GGG			hmmpanther:PTHR11339:SF244,hmmpanther:PTHR11339,Gene3D:2.10.25.10,Pfam_domain:PF01826,SMART_domains:SM00181,Superfamily_domains:SSF57567	Fc fragment of IgG binding protein precursor				ENSP00000221347		21/36									COSM1525310	21/36	.		ENST00000221347	Transcript				extracellular region	protein binding	ENSG00000090920	g.chr19:40384053T>C	13572			MODERATE		3.18	medium	getma.org/?cm=msa&ty=f&p=FCGBP_HUMAN&rb=3151&re=3208&var=E3186G	NA	getma.org/?cm=var&var=hg19,19,40384053,T,C&fts=all	E3186G	--	--	1																																			1	1		possibly_damaging(0.728)	p.E3186G	NM_003890	NP_003881			1	FCGBP_HUMAN	FCGBP	HGNC	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)				21	9565	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		UPI00001B0455	3186			TIL 7.		SNV	FCGBP,missense_variant,p.Glu3186Gly,ENST00000221347,NM_003890.2;	uc002omp.3	c.9557A>G	9565/16390	3	3			c.9557A>G						19	SNP	c.(9556-9558)GAG>GGG	8	8			ovary(4)|skin(4)|central_nervous_system(1)	9	Broad	Fc fragment of IgG binding protein precursor			40384053		0.652	ENSG00000090920	5676	g.chr19:40384053T>C		extracellular region	protein binding							-7.923592	KEEP	18	30	-1	232	282	18	30	-1	8.700343	232	282	0.106796	1	0	0	0	0	1	0	0	0	--	--		0	C				249	GBM-32-5222-TP	p.E3186G	T	CTGGCAGCCCTCCACACAGGG	NM_003890	NP_003881	40384053	Q9Y6R7	FCGBP_HUMAN	0	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		21	9565	-	C	C	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Missense_Mutation	3186			TIL 7.			
FCGBP	8857		GRCh37	19	40363235	40363235	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000221347.6:c.14835G>A	p.Val4945=	p.V4945=	ENST00000221347	NM_003890.2	4945	gtG/gtA	0																																																																																																																																																																																																																																												
FCGR3A	2214		GRCh37	1	161518335	161518335	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000367969.3:c.303C>T	p.Ser101=	p.S101=	ENST00000367969	NM_000569.6	101	agC/agT	0																																																																																																																																																																																																																																												
FCHO2	0	broad.mit.edu	GRCh37	5	72370577	72370577	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01	TCGA-26-5135-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000430046.2:c.1588C>T	p.Arg530Trp	p.R530W	ENST00000430046	NM_138782.2	530	Cgg/Tgg	0	T:0.0003	T:0.0015	1	T:0		T	R/W	uc003kcl.2	protein_coding	YES	CCDS47230.1			1588/2433									ovary(1)	1	c.(1588-1590)CGG>TGG			hmmpanther:PTHR23065,hmmpanther:PTHR23065:SF8	FCH domain only 2 isoform a		T:0	T:0	ENSP00000393776	T:0	20/26	1.66E-05	0.00023							rs368140227,COSM1069910,COSM195686	20/26	.		ENST00000430046	Transcript		T:0.0004				ENSG00000157107	g.chr5:72370577C>T	25180			MODERATE		2.365	medium	getma.org/?cm=msa&ty=f&p=FCHO2_HUMAN&rb=495&re=541&var=R530W	NA	getma.org/?cm=var&var=hg19,5,72370577,C,T&fts=all	R530W	--	--	1																																		FCHO2_uc011csl.1_Missense_Mutation_p.R497W|FCHO2_uc010izb.2_Translation_Start_Site|FCHO2_uc011csn.1_Translation_Start_Site	0,1,1	1		probably_damaging(0.912)	p.R530W	NM_138782	NP_620137	T:0	deleterious(0)	0,1,1	FCHO2_HUMAN	FCHO2	HGNC	Q0JRZ9	FCHO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)	B4DEU7_HUMAN		20	1704	+		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)	UPI000019971A	530					SNV	FCHO2,missense_variant,p.Arg530Trp,ENST00000430046,NM_138782.2,NM_001146032.1;FCHO2,missense_variant,p.Arg530Trp,ENST00000341845,;FCHO2,missense_variant,p.Arg497Trp,ENST00000512348,;FCHO2,non_coding_transcript_exon_variant,,ENST00000508431,;	uc003kcl.2	c.1588C>T	1704/4981	2	2			c.1588C>T						5	SNP	c.(1588-1590)CGG>TGG	18	18			ovary(1)	1	Broad	FCH domain only 2 isoform a			72370577		0.403	ENSG00000157107	5686	g.chr5:72370577C>T										60.662554	KEEP	13	11	-1	16	18	13	11	-1	61.083492	16	18	0.403846	1	0	0	0	0	1	0	0	0	--	--		0	T			FCHO2_uc011csl.1_Missense_Mutation_p.R497W|FCHO2_uc010izb.2_Translation_Start_Site|FCHO2_uc011csn.1_Translation_Start_Site	184	GBM-26-5135-TP	p.R530W	C	AGGTGTGTCACGGGGTCCCAG	NM_138782	NP_620137	72370577	Q0JRZ9	FCHO2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)	20	1704	+	T	T		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)	Missense_Mutation	530						
FCHO2	115548		GRCh37	5	72383422	72383422	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000430046.2:c.2252G>A	p.Gly751Glu	p.G751E	ENST00000430046	NM_138782.2	751	gGg/gAg	0																																																																																																																																																																																																																																												
FCHSD1	89848	broad.mit.edu	GRCh37	5	141029038	141029038	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01	TCGA-06-0166-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000435817.2:c.299G>A	p.Arg100Gln	p.R100Q	ENST00000435817	NM_033449.2	100	cGa/cAa	0			1			T	R/Q	uc003llk.2	protein_coding	YES	CCDS47295.1			299/2073							FCHSD1/BRAF(2)		skin(2)|ovary(1)|central_nervous_system(1)	4	c.(298-300)CGA>CAA			Superfamily_domains:SSF103657,SMART_domains:SM00055,Pfam_domain:PF00611,hmmpanther:PTHR15735:SF4,hmmpanther:PTHR15735	FCH and double SH3 domains 1				ENSP00000399259		20-May	4.13E-05	0.000102				1.50E-05		0.000182	rs762942642,COSM2150188	20-May	.		ENST00000435817	Transcript						ENSG00000197948	g.chr5:141029038C>T	25463			MODERATE		1.955	medium	getma.org/?cm=msa&ty=f&p=FCSD1_HUMAN&rb=13&re=107&var=R100Q	NA	getma.org/?cm=var&var=hg19,5,141029038,C,T&fts=all	R100Q	--	--	1																																		FCHSD1_uc010jgg.2_5'Flank|FCHSD1_uc003llj.2_RNA	0,1	1		probably_damaging(1)	p.R100Q	NM_033449	NP_258260		deleterious(0.02)	0,1	FCSD1_HUMAN	FCHSD1	HGNC	Q86WN1	FCSD1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				5	350	-			UPI000000D903	100					SNV	FCHSD1,missense_variant,p.Arg100Gln,ENST00000435817,NM_033449.2;FCHSD1,missense_variant,p.Arg24Gln,ENST00000522126,;FCHSD1,missense_variant,p.Arg98Gln,ENST00000522783,;FCHSD1,missense_variant,p.Arg98Gln,ENST00000519800,;ARAP3,downstream_gene_variant,,ENST00000239440,NM_022481.5;ARAP3,downstream_gene_variant,,ENST00000508305,;ARAP3,downstream_gene_variant,,ENST00000513878,;FCHSD1,upstream_gene_variant,,ENST00000518499,;FCHSD1,upstream_gene_variant,,ENST00000523856,;ARAP3,downstream_gene_variant,,ENST00000512390,;FCHSD1,upstream_gene_variant,,ENST00000522386,;FCHSD1,upstream_gene_variant,,ENST00000522763,;	uc003llk.2	c.299G>A	350/4320	1	1			c.299G>A						5	SNP	c.(298-300)CGA>CAA	15	15	FCHSD1/BRAF(2)		skin(2)|ovary(1)|central_nervous_system(1)	4	Broad	FCH and double SH3 domains 1			141029038		0.637	ENSG00000197948	5687	g.chr5:141029038C>T										96.330466	KEEP	26	20	-1	81	70	26	20	-1	105.282267	81	70	0.253086	1	0	0	0	0	1	0	0	0	--	--		0	T			FCHSD1_uc010jgg.2_5'Flank|FCHSD1_uc003llj.2_RNA	31	GBM-06-0166-TP	p.R100Q	C	CGCCTGGAGTCGGGTTTGGCC	NM_033449	NP_258260	141029038	Q86WN1	FCSD1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	350	-	T	T			Missense_Mutation	100						
FCN2	0	broad.mit.edu	GRCh37	9	137777089	137777089	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5955-01	TCGA-19-5955-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000291744.6:c.306G>A	p.Pro102=	p.P102=	ENST00000291744	NM_004108.2	102	ccG/ccA	0	T:0.0007	A:0	1	A:0		A	P	uc004cfg.1	protein_coding	YES	CCDS6983.1			306/942									large_intestine(1)	1	c.(304-306)CCG>CCA			Superfamily_domains:SSF56496,SMART_domains:SM00186,Gene3D:3.90.215.10,Pfam_domain:PF00147,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF179,PROSITE_profiles:PS51406	ficolin 2 isoform a precursor		A:0	T:0	ENSP00000291744	A:0	8-May	4.94E-05	9.73E-05		0.000348				0.000121	rs369807019,COSM2156798	8-May	.		ENST00000291744	Transcript		A:0.0002	complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding	ENSG00000160339	g.chr9:137777089G>A	3624			LOW								--	--	1																																		FCN2_uc004cfh.1_Silent_p.P64P	0,1	1			p.P102P	NM_004108	NP_004099	A:0.001		0,1	FCN2_HUMAN	FCN2	HGNC	Q15485	FCN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)			5	316	+		Myeloproliferative disorder(178;0.0333)	UPI000013E075	102			Fibrinogen C-terminal.		SNV	FCN2,synonymous_variant,p.=,ENST00000350339,NM_015837.2;FCN2,synonymous_variant,p.=,ENST00000291744,NM_004108.2;	uc004cfg.1	c.306G>A	316/1057	1	1			c.306G>A						9	SNP	c.(304-306)CCG>CCA	58	58			large_intestine(1)	1	Broad	ficolin 2 isoform a precursor			137777089		0.662	ENSG00000160339	5690	g.chr9:137777089G>A	complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding							23.299753	KEEP	5	8	-1	19	31	5	8	-1	27.901062	19	31	0.2	1	0	0	0	0	0	0	1	0	--	--		0	A			FCN2_uc004cfh.1_Silent_p.P64P	175	GBM-19-5955-TP	p.P102P	G	TCCCAGGCCCGCGTACCTGCA	NM_004108	NP_004099	137777089	Q15485	FCN2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)	5	316	+	A	A		Myeloproliferative disorder(178;0.0333)	Silent	102			Fibrinogen C-terminal.			
FCRL1	115350	broad.mit.edu	GRCh37	1	157771270	157771270	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0221-01	TCGA-06-0221-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368176.3:c.984C>T	p.Tyr328=	p.Y328=	ENST00000368176	NM_001159398.1	328	taC/taT	0	A:0	A:0	1	A:0.0014		A	Y	uc001frg.2	protein_coding	YES	CCDS1170.1			984/1290									skin(4)|ovary(3)	7	c.(982-984)TAC>TAT			hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF56,Transmembrane_helices:TMhelix	Fc receptor-like 1 isoform 1 precursor		A:0	A:0.0001	ENSP00000357158	A:0	11-Jun	0.000115		0.000173			0.000165		6.08E-05	rs200953593,COSM2151030	11-Jun	.		ENST00000368176	Transcript		A:0.0002		integral to membrane|plasma membrane	receptor activity	ENSG00000163534	g.chr1:157771270G>A	18509			LOW								--	--	1																																		FCRL1_uc001frf.2_RNA|FCRL1_uc001frh.2_Silent_p.Y328Y|FCRL1_uc001fri.2_Intron|FCRL1_uc001frj.2_RNA	0,1	1			p.Y328Y	NM_052938	NP_443170	A:0		0,1	FCRL1_HUMAN	FCRL1	HGNC	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)				6	1097	-	all_hematologic(112;0.0378)		UPI000006E5BD	328			Helical; (Potential).		SNV	FCRL1,synonymous_variant,p.=,ENST00000368176,NM_001159398.1,NM_052938.4;FCRL1,synonymous_variant,p.=,ENST00000491942,;FCRL1,intron_variant,,ENST00000358292,NM_001159397.1;FCRL1,non_coding_transcript_exon_variant,,ENST00000368175,;FCRL1,non_coding_transcript_exon_variant,,ENST00000463001,;FCRL1,intron_variant,,ENST00000489998,;FCRL1,upstream_gene_variant,,ENST00000495126,;	uc001frg.2	c.984C>T	1052/2596	2	2			c.984C>T						1	SNP	c.(982-984)TAC>TAT	36	36			skin(4)|ovary(3)	7	Broad	Fc receptor-like 1 isoform 1 precursor			157771270		0.433	ENSG00000163534	5692	g.chr1:157771270G>A		integral to membrane|plasma membrane	receptor activity	GBM(54;482 1003 11223 30131 35730)			GBM(54;482 1003 11223 30131 35730)			107.207711	KEEP	17	24	-1	36	45	17	24	-1	109.531691	36	45	0.345455	1	0	0	0	0	0	0	1	0	--	--		0	A			FCRL1_uc001frf.2_RNA|FCRL1_uc001frh.2_Silent_p.Y328Y|FCRL1_uc001fri.2_Intron|FCRL1_uc001frj.2_RNA	53	GBM-06-0221-TP	p.Y328Y	G	TTTTGAGGCCGTAGCAAAATA	NM_052938	NP_443170	157771270	Q96LA6	FCRL1_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.24)		6	1097	-	A	A	all_hematologic(112;0.0378)		Silent	328			Helical; (Potential).			
FCRL1	0	broad.mit.edu	GRCh37	1	157772382	157772382	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-26-5133-01	TCGA-26-5133-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368176.3:c.392T>G	p.Val131Gly	p.V131G	ENST00000368176	NM_001159398.1	131	gTc/gGc	0			1			C	V/G	uc001frg.2	protein_coding	YES	CCDS1170.1			392/1290									skin(4)|ovary(3)	7	c.(391-393)GTC>GGC			Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF56,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	Fc receptor-like 1 isoform 1 precursor				ENSP00000357158		11-Apr	0.00148	0.00453		0.000468	0.00799	0.000967	0.00355		rs746298871,COSM3747796,COSM3747797	11-Apr	common_variant		ENST00000368176	Transcript				integral to membrane|plasma membrane	receptor activity	ENSG00000163534	g.chr1:157772382A>C	18509			MODERATE		3.41	medium	getma.org/?cm=msa&ty=f&p=FCRL1_HUMAN&rb=114&re=201&var=V131G	getma.org/pdb.php?prot=FCRL1_HUMAN&from=114&to=201&var=V131G	getma.org/?cm=var&var=hg19,1,157772382,A,C&fts=all	V131G	2.39	medium	1																																		FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Missense_Mutation_p.V131G|FCRL1_uc001fri.2_Missense_Mutation_p.V131G|FCRL1_uc001frj.2_Intron	0,1,1	1		probably_damaging(0.916)	p.V131G	NM_052938	NP_443170		deleterious(0)	0,1,1	FCRL1_HUMAN	FCRL1	HGNC	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)				4	505	-	all_hematologic(112;0.0378)		UPI000006E5BD	131			Ig-like C2-type 2.|Extracellular (Potential).		SNV	FCRL1,missense_variant,p.Val131Gly,ENST00000358292,NM_001159397.1;FCRL1,missense_variant,p.Val131Gly,ENST00000368176,NM_001159398.1,NM_052938.4;FCRL1,missense_variant,p.Val131Gly,ENST00000491942,;FCRL1,non_coding_transcript_exon_variant,,ENST00000489998,;FCRL1,intron_variant,,ENST00000368175,;FCRL1,upstream_gene_variant,,ENST00000463001,;FCRL1,upstream_gene_variant,,ENST00000495126,;FCRL1,downstream_gene_variant,,ENST00000480310,;	uc001frg.2	c.392T>G	460/2596	3	3			c.392T>G						1	SNP	c.(391-393)GTC>GGC	1	1			skin(4)|ovary(3)	7	Broad	Fc receptor-like 1 isoform 1 precursor			157772382		0.542	ENSG00000163534	5692	g.chr1:157772382A>C		integral to membrane|plasma membrane	receptor activity	GBM(54;482 1003 11223 30131 35730)			GBM(54;482 1003 11223 30131 35730)			1.018101	KEEP	10	18	-1	21	29	10	18	-1	7.017204	21	29	0.16	1	0	0	0	0	1	0	0	0	2.39	medium		0	C			FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Missense_Mutation_p.V131G|FCRL1_uc001fri.2_Missense_Mutation_p.V131G|FCRL1_uc001frj.2_Intron	182	GBM-26-5133-TP	p.V131G	A	GCAGATGAGGACCAGCCTGTC	NM_052938	NP_443170	157772382	Q96LA6	FCRL1_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.24)		4	505	-	C	C	all_hematologic(112;0.0378)		Missense_Mutation	131			Ig-like C2-type 2.|Extracellular (Potential).			
FCRL2	79368	broad.mit.edu	GRCh37	1	157739709	157739709	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361516.3:c.542C>T	p.Thr181Met	p.T181M	ENST00000361516	NM_030764.3	181	aCg/aTg	0			1			A	T/M	uc001fre.2	protein_coding	YES	CCDS1168.1			542/1527									ovary(1)|pancreas(1)	2	c.(541-543)ACG>ATG			Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF41,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	Fc receptor-like 2 precursor				ENSP00000355157		12-Apr	8.24E-06		8.64E-05						rs756244463,COSM2149629	12-Apr	.		ENST00000361516	Transcript			cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	ENSG00000132704	g.chr1:157739709G>A	14875			MODERATE		2.775	medium	getma.org/?cm=msa&ty=f&p=FCRL2_HUMAN&rb=108&re=181&var=T181M	getma.org/pdb.php?prot=FCRL2_HUMAN&from=108&to=181&var=T181M	getma.org/?cm=var&var=hg19,1,157739709,G,A&fts=all	T181M	--	--	1																																		FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.T181M|FCRL2_uc009wsp.2_Intron|FCRL2_uc010pia.1_Missense_Mutation_p.T181M	0,1	1		probably_damaging(0.938)	p.T181M	NM_030764	NP_110391		deleterious(0.04)	0,1	FCRL2_HUMAN	FCRL2	HGNC	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)				4	601	-	all_hematologic(112;0.0378)		UPI000006E1F3	181			Extracellular (Potential).|Ig-like C2-type 2.		SNV	FCRL2,missense_variant,p.Thr181Met,ENST00000361516,NM_030764.3;FCRL2,missense_variant,p.Thr181Met,ENST00000392274,;FCRL2,intron_variant,,ENST00000368181,;FCRL2,upstream_gene_variant,,ENST00000469986,;FCRL2,non_coding_transcript_exon_variant,,ENST00000368178,;FCRL2,non_coding_transcript_exon_variant,,ENST00000462774,;	uc001fre.2	c.542C>T	591/2579	2	2			c.542C>T						1	SNP	c.(541-543)ACG>ATG	25	25			ovary(1)|pancreas(1)	2	Broad	Fc receptor-like 2 precursor			157739709		0.527	ENSG00000132704	5693	g.chr1:157739709G>A	cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity							167.963494	KEEP	30	31	-1	40	43	30	31	-1	168.753947	40	43	0.41791	1	0	0	0	0	1	0	0	0	--	--		0	A			FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.T181M|FCRL2_uc009wsp.2_Intron|FCRL2_uc010pia.1_Missense_Mutation_p.T181M	18	GBM-06-0137-TP	p.T181M	G	GTGAGTCACCGTTTCTGCCTT	NM_030764	NP_110391	157739709	Q96LA5	FCRL2_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.24)		4	601	-	A	A	all_hematologic(112;0.0378)		Missense_Mutation	181			Extracellular (Potential).|Ig-like C2-type 2.			
FCRL2	79368	broad.mit.edu	GRCh37	1	157718679	157718679	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0646-01	TCGA-06-0646-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361516.3:c.1379C>A	p.Pro460Gln	p.P460Q	ENST00000361516	NM_030764.3	460	cCa/cAa	0			1			T	P/Q	uc001fre.2	protein_coding	YES	CCDS1168.1			1379/1527									ovary(1)|pancreas(1)	2	c.(1378-1380)CCA>CAA			hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF41	Fc receptor-like 2 precursor				ENSP00000355157		12-Sep									COSM2151330	12-Sep	.		ENST00000361516	Transcript			cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	ENSG00000132704	g.chr1:157718679G>T	14875			MODERATE		1.825	low	getma.org/?cm=msa&ty=f&p=FCRL2_HUMAN&rb=373&re=508&var=P460Q	NA	getma.org/?cm=var&var=hg19,1,157718679,G,T&fts=all	P460Q	--	--	1																																		FCRL2_uc001frd.2_Missense_Mutation_p.P207Q|FCRL2_uc010phz.1_Intron|FCRL2_uc009wsp.2_Missense_Mutation_p.P176Q	1	1		probably_damaging(0.974)	p.P460Q	NM_030764	NP_110391		deleterious(0)	1	FCRL2_HUMAN	FCRL2	HGNC	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)				9	1438	-	all_hematologic(112;0.0378)		UPI000006E1F3	460			Cytoplasmic (Potential).|ITIM motif 2.		SNV	FCRL2,missense_variant,p.Pro460Gln,ENST00000361516,NM_030764.3;FCRL2,missense_variant,p.Pro176Gln,ENST00000368181,;FCRL2,intron_variant,,ENST00000392274,;FCRL2,non_coding_transcript_exon_variant,,ENST00000368178,;	uc001fre.2	c.1379C>A	1428/2579	2	2			c.1379C>A						1	SNP	c.(1378-1380)CCA>CAA	21	21			ovary(1)|pancreas(1)	2	Broad	Fc receptor-like 2 precursor			157718679		0.502	ENSG00000132704	5693	g.chr1:157718679G>T	cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity							109.975069	KEEP	21	20	0.512195122	33	33	21	20	0.512195122	110.194854	33	33	0.444444	1	0	0	0	0	1	0	0	0	--	--		0	T			FCRL2_uc001frd.2_Missense_Mutation_p.P207Q|FCRL2_uc010phz.1_Intron|FCRL2_uc009wsp.2_Missense_Mutation_p.P176Q	60	GBM-06-0646-TP	p.P460Q	G	GACATACACTGGCTGCAGCTC	NM_030764	NP_110391	157718679	Q96LA5	FCRL2_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.24)		9	1438	-	T	T	all_hematologic(112;0.0378)		Missense_Mutation	460			Cytoplasmic (Potential).|ITIM motif 2.			
FCRL2	0	broad.mit.edu	GRCh37	1	157740305	157740305	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-28-5207-01	TCGA-28-5207-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361516.3:c.204T>A	p.Leu68=	p.L68=	ENST00000361516	NM_030764.3	68	ctT/ctA	0			1			T	L	uc001fre.2	protein_coding	YES	CCDS1168.1			204/1527									ovary(1)|pancreas(1)	2	c.(202-204)CTT>CTA			Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF41,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	Fc receptor-like 2 precursor				ENSP00000355157		12-Mar									COSM3399832	12-Mar	.		ENST00000361516	Transcript			cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	ENSG00000132704	g.chr1:157740305A>T	14875			LOW								--	--	1																																		FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Silent_p.L68L|FCRL2_uc009wsp.2_Silent_p.L68L|FCRL2_uc010pia.1_Silent_p.L68L	1	1			p.L68L	NM_030764	NP_110391			1	FCRL2_HUMAN	FCRL2	HGNC	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)				3	263	-	all_hematologic(112;0.0378)		UPI000006E1F3	68			Ig-like C2-type 1.|Extracellular (Potential).		SNV	FCRL2,synonymous_variant,p.=,ENST00000361516,NM_030764.3;FCRL2,synonymous_variant,p.=,ENST00000368181,;FCRL2,synonymous_variant,p.=,ENST00000392274,;FCRL2,upstream_gene_variant,,ENST00000469986,;FCRL2,non_coding_transcript_exon_variant,,ENST00000462774,;FCRL2,upstream_gene_variant,,ENST00000368178,;	uc001fre.2	c.204T>A	253/2579	2	2			c.204T>A						1	SNP	c.(202-204)CTT>CTA	17	17			ovary(1)|pancreas(1)	2	Broad	Fc receptor-like 2 precursor			157740305		0.338	ENSG00000132704	5693	g.chr1:157740305A>T	cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity							-48.081812	KEEP	3	4	-1	143	109	3	4	-1	11.578006	143	109	0.028689	1	0	0	0	0	0	0	1	0	--	--		0	T			FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Silent_p.L68L|FCRL2_uc009wsp.2_Silent_p.L68L|FCRL2_uc010pia.1_Silent_p.L68L	216	GBM-28-5207-TP	p.L68L	A	CACTTTGGATAAGGAAATCTG	NM_030764	NP_110391	157740305	Q96LA5	FCRL2_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.24)		3	263	-	T	T	all_hematologic(112;0.0378)		Silent	68			Ig-like C2-type 1.|Extracellular (Potential).			
FCRL4	83417	broad.mit.edu	GRCh37	1	157556156	157556156	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0646-01	TCGA-06-0646-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271532.1:c.937G>A	p.Ala313Thr	p.A313T	ENST00000271532	NM_031282.2	313	Gct/Act	0			1			T	A/T	uc001fqw.2	protein_coding	YES	CCDS1166.1			937/1548									ovary(2)|kidney(1)|skin(1)	4	c.(937-939)GCT>ACT			Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF50,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	Fc receptor-like 4 precursor				ENSP00000271532		12-Jun									COSM3399829	12-Jun	.		ENST00000271532	Transcript				integral to membrane|plasma membrane	receptor activity	ENSG00000163518	g.chr1:157556156C>T	18507			MODERATE		1.825	low	getma.org/?cm=msa&ty=f&p=FCRL4_HUMAN&rb=303&re=361&var=A313T	NA	getma.org/?cm=var&var=hg19,1,157556156,C,T&fts=all	A313T	--	--	1																																		FCRL4_uc010phy.1_RNA	1	1		possibly_damaging(0.46)	p.A313T	NM_031282	NP_112572		tolerated(0.08)	1	FCRL4_HUMAN	FCRL4	HGNC	Q96PJ5	FCRL4_HUMAN					6	1073	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	UPI000006E26B	313			Ig-like C2-type 4.|Extracellular (Potential).		SNV	FCRL4,missense_variant,p.Ala313Thr,ENST00000271532,NM_031282.2;FCRL4,non_coding_transcript_exon_variant,,ENST00000448509,;	uc001fqw.2	c.937G>A	1073/3459	1	1			c.937G>A						1	SNP	c.(937-939)GCT>ACT	8	8			ovary(2)|kidney(1)|skin(1)	4	Broad	Fc receptor-like 4 precursor			157556156		0.597	ENSG00000163518	5695	g.chr1:157556156C>T		integral to membrane|plasma membrane	receptor activity			315			315	-32.749573	KEEP	2	2	-1	82	91	2	2	-1	7.00747	82	91	0.025157	1	0	0	0	0	1	0	0	0	--	--		0	T			FCRL4_uc010phy.1_RNA	60	GBM-06-0646-TP	p.A313T	C	GTGCCTTCAGCCACGGAGCAG	NM_031282	NP_112572	157556156	Q96PJ5	FCRL4_HUMAN	0			6	1073	-	T	T	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	Missense_Mutation	313			Ig-like C2-type 4.|Extracellular (Potential).			
FCRL5	0	broad.mit.edu	GRCh37	1	157490328	157490328	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361835.3:c.2525C>T	p.Ala842Val	p.A842V	ENST00000361835	NM_001195388.1	842	gCg/gTg	0			1			A	A/V	uc001fqu.2	protein_coding	YES	CCDS1165.1			2525/2934									ovary(3)|breast(2)|central_nervous_system(1)	6	c.(2524-2526)GCG>GTG			hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF49	Fc receptor-like 5				ENSP00000354691		17-Dec									COSM3399827,COSM3399828	17-Dec	.		ENST00000361835	Transcript				integral to membrane|plasma membrane	receptor activity	ENSG00000143297	g.chr1:157490328G>A	18508			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=FCRL5_HUMAN&rb=838&re=977&var=A842V	NA	getma.org/?cm=var&var=hg19,1,157490328,G,A&fts=all	A842V	--	--	1																																		FCRL5_uc009wsm.2_Missense_Mutation_p.A842V	1,1	1		benign(0.056)	p.A842V	NM_031281	NP_112571		deleterious(0.03)	1,1	FCRL5_HUMAN	FCRL5	HGNC	Q96RD9	FCRL5_HUMAN					12	2683	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	UPI0000458907	842			Extracellular (Potential).		SNV	FCRL5,missense_variant,p.Ala842Val,ENST00000361835,NM_001195388.1,NM_031281.2;FCRL5,missense_variant,p.Ala842Val,ENST00000356953,;FCRL5,downstream_gene_variant,,ENST00000368190,;FCRL5,downstream_gene_variant,,ENST00000368191,;FCRL5,non_coding_transcript_exon_variant,,ENST00000461387,;FCRL5,non_coding_transcript_exon_variant,,ENST00000497286,;FCRL5,upstream_gene_variant,,ENST00000462218,;FCRL5,upstream_gene_variant,,ENST00000483875,;	uc001fqu.2	c.2525C>T	2683/5390	1	1			c.2525C>T						1	SNP	c.(2524-2526)GCG>GTG	56	56			ovary(3)|breast(2)|central_nervous_system(1)	6	Broad	Fc receptor-like 5			157490328		0.657	ENSG00000143297	5696	g.chr1:157490328G>A		integral to membrane|plasma membrane	receptor activity							31.651613	KEEP	9	4	-1	3	6	9	4	-1	31.699966	3	6	0.555556	1	0	0	0	0	1	0	0	0	--	--		0	A			FCRL5_uc009wsm.2_Missense_Mutation_p.A842V	197	GBM-27-1838-TP	p.A842V	G	ACTTCTGTTCGCGGTCAGCCC	NM_031281	NP_112571	157490328	Q96RD9	FCRL5_HUMAN	0			12	2683	-	A	A	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	Missense_Mutation	842			Extracellular (Potential).			
FCRLA	84824	broad.mit.edu	GRCh37	1	161682911	161682911	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0132-01	TCGA-06-0132-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367959.2:c.890C>T	p.Pro297Leu	p.P297L	ENST00000367959	NM_001184866.1	297	cCa/cTa	0			1			T	P/L	uc001gbe.2	protein_coding	YES	CCDS53415.1			890/1149										0	c.(889-891)CCA>CTA			hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF9	Fc receptor-like and mucin-like 1				ENSP00000356936		6-Jun									COSM3399926,COSM3399925,COSM3399927	6-Jun	.		ENST00000367959	Transcript			cell differentiation	cytoplasm|extracellular region		ENSG00000132185	g.chr1:161682911C>T	18504			MODERATE		1.525	low	getma.org/?cm=msa&ty=f&p=FCRLA_HUMAN&rb=246&re=359&var=P274L	NA	getma.org/?cm=var&var=hg19,1,161682911,C,T&fts=all	P274L	--	--	1																																		FCRLA_uc001gbd.2_Missense_Mutation_p.P291L|FCRLA_uc001gbf.2_Missense_Mutation_p.P202L|FCRLA_uc001gbg.2_Missense_Mutation_p.P151L|FCRLA_uc009wuo.2_Missense_Mutation_p.P157L|FCRLA_uc009wup.2_Missense_Mutation_p.P107L|FCRLA_uc009wuq.2_Missense_Mutation_p.P56L	1,1,1	1		possibly_damaging(0.77)	p.P297L	NM_032738	NP_116127		deleterious(0)	1,1,1		FCRLA	HGNC	Q7L513	FCRLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00301)		A6NC03_HUMAN		6	1132	+	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		UPI0001D3957E	274			Pro-rich.		SNV	FCRLA,missense_variant,p.Pro280Leu,ENST00000540926,;FCRLA,missense_variant,p.Pro297Leu,ENST00000367959,NM_001184866.1;FCRLA,missense_variant,p.Pro291Leu,ENST00000236938,NM_032738.3;FCRLA,missense_variant,p.Pro202Leu,ENST00000546024,NM_001184867.1;FCRLA,missense_variant,p.Pro280Leu,ENST00000367953,;FCRLA,missense_variant,p.Pro157Leu,ENST00000540521,NM_001184870.1;FCRLA,missense_variant,p.Pro107Leu,ENST00000367949,NM_001184873.1;FCRLA,missense_variant,p.Pro151Leu,ENST00000367957,NM_001184872.1;FCRLA,missense_variant,p.Pro56Leu,ENST00000350710,NM_001184871.1;FCRLA,missense_variant,p.Pro185Leu,ENST00000309691,;FCRLA,missense_variant,p.Pro179Leu,ENST00000349527,;FCRLA,missense_variant,p.Pro67Leu,ENST00000367950,;FCRLA,missense_variant,p.Pro140Leu,ENST00000294796,;FCRLA,non_coding_transcript_exon_variant,,ENST00000470841,;FCRLA,downstream_gene_variant,,ENST00000465403,;	uc001gbe.2	c.890C>T	1132/2362	2	2			c.890C>T						1	SNP	c.(889-891)CCA>CTA	39	39				0	Broad	Fc receptor-like and mucin-like 1			161682911		0.582	ENSG00000132185	5698	g.chr1:161682911C>T	cell differentiation	cytoplasm|extracellular region								8.934907	KEEP	12	10	-1	118	111	12	10	-1	46.31014	118	111	0.090498	1	0	0	0	0	1	0	0	0	--	--		0	T			FCRLA_uc001gbd.2_Missense_Mutation_p.P291L|FCRLA_uc001gbf.2_Missense_Mutation_p.P202L|FCRLA_uc001gbg.2_Missense_Mutation_p.P151L|FCRLA_uc009wuo.2_Missense_Mutation_p.P157L|FCRLA_uc009wup.2_Missense_Mutation_p.P107L|FCRLA_uc009wuq.2_Missense_Mutation_p.P56L	17	GBM-06-0132-TP	p.P297L	C	ACATTGAATCCAGCTCCTCAG	NM_032738	NP_116127	161682911	Q7L513	FCRLA_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.00301)		6	1132	+	T	T	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		Missense_Mutation	274			Pro-rich.			
FCRLA	0	broad.mit.edu	GRCh37	1	161682005	161682005	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367959.2:c.850C>T	p.Gln284Ter	p.Q284*	ENST00000367959	NM_001184866.1	284	Cag/Tag	0			1			T	Q/*	uc001gbe.2	protein_coding	YES	CCDS53415.1			850/1149										0	c.(850-852)CAG>TAG			Gene3D:2.60.40.10,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF9,Superfamily_domains:SSF48726	Fc receptor-like and mucin-like 1				ENSP00000356936		6-May									COSM3399923,COSM3399922,COSM3399924	6-May	.		ENST00000367959	Transcript			cell differentiation	cytoplasm|extracellular region		ENSG00000132185	g.chr1:161682005C>T	18504			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,161682005,C,T&fts=all	Q261*	--	--	1																																		FCRLA_uc001gbd.2_Nonsense_Mutation_p.Q278*|FCRLA_uc001gbf.2_Nonsense_Mutation_p.Q189*|FCRLA_uc001gbg.2_Nonsense_Mutation_p.Q138*|FCRLA_uc009wuo.2_Nonsense_Mutation_p.Q144*|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron	1,1,1	1			p.Q284*	NM_032738	NP_116127			1,1,1		FCRLA	HGNC	Q7L513	FCRLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00301)		A6NC03_HUMAN		5	1092	+	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		UPI0001D3957E	261					SNV	FCRLA,stop_gained,p.Gln267Ter,ENST00000540926,;FCRLA,stop_gained,p.Gln284Ter,ENST00000367959,NM_001184866.1;FCRLA,stop_gained,p.Gln278Ter,ENST00000236938,NM_032738.3;FCRLA,stop_gained,p.Gln189Ter,ENST00000546024,NM_001184867.1;FCRLA,stop_gained,p.Gln267Ter,ENST00000367953,;FCRLA,stop_gained,p.Gln144Ter,ENST00000540521,NM_001184870.1;FCRLA,stop_gained,p.Gln138Ter,ENST00000367957,NM_001184872.1;FCRLA,stop_gained,p.Gln172Ter,ENST00000309691,;FCRLA,stop_gained,p.Gln127Ter,ENST00000294796,;FCRLA,intron_variant,,ENST00000367949,NM_001184873.1;FCRLA,intron_variant,,ENST00000350710,NM_001184871.1;FCRLA,intron_variant,,ENST00000349527,;FCRLA,intron_variant,,ENST00000367950,;FCRLA,non_coding_transcript_exon_variant,,ENST00000470841,;FCRLA,downstream_gene_variant,,ENST00000465403,;	uc001gbe.2	c.850C>T	1092/2362	5	2			c.850C>T						1	SNP	c.(850-852)CAG>TAG	46	46				0	Broad	Fc receptor-like and mucin-like 1			161682005		0.527	ENSG00000132185	5698	g.chr1:161682005C>T	cell differentiation	cytoplasm|extracellular region								61.092095	KEEP	15	11	-1	39	45	15	11	-1	67.182949	39	45	0.247619	1	0	0	0	0	0	1	0	0	--	--		0	T			FCRLA_uc001gbd.2_Nonsense_Mutation_p.Q278*|FCRLA_uc001gbf.2_Nonsense_Mutation_p.Q189*|FCRLA_uc001gbg.2_Nonsense_Mutation_p.Q138*|FCRLA_uc009wuo.2_Nonsense_Mutation_p.Q144*|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron	207	GBM-28-1753-TP	p.Q284*	C	GATCAGAGTGCAGGGTGAGTT	NM_032738	NP_116127	161682005	Q7L513	FCRLA_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.00301)		5	1092	+	T	T	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		Nonsense_Mutation	261						
FDPS	0	broad.mit.edu	GRCh37	1	155287783	155287783	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0616-01	TCGA-12-0616-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356657.6:c.532C>T	p.Arg178Cys	p.R178C	ENST00000356657	NM_001135821.1	178	Cgc/Tgc	0			1			T	R/C	uc001fkc.2	protein_coding	YES	CCDS1110.1			532/1260										0	c.(532-534)CGC>TGC			Gene3D:1.10.600.10,Pfam_domain:PF00348,PROSITE_patterns:PS00723,hmmpanther:PTHR11525,hmmpanther:PTHR11525:SF0,Superfamily_domains:SSF48576	farnesyl diphosphate synthase isoform a	Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)			ENSP00000349078		11-May	1.65E-05		8.64E-05			1.50E-05			rs749581999,COSM2153567	11-May	.		ENST00000356657	Transcript			cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding	ENSG00000160752	g.chr1:155287783C>T	3631			MODERATE		2.16	medium	getma.org/?cm=msa&ty=f&p=FPPS_HUMAN&rb=110&re=382&var=R178C	getma.org/pdb.php?prot=FPPS_HUMAN&from=110&to=382&var=R178C	getma.org/?cm=var&var=hg19,1,155287783,C,T&fts=all	R178C	--	--	1																																		RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.R112C|FDPS_uc001fke.2_Missense_Mutation_p.R178C|FDPS_uc001fkf.2_Missense_Mutation_p.R112C|C1orf104_uc001fkh.1_RNA|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank	0,1	1		possibly_damaging(0.475)	p.R178C	NM_002004	NP_001995		deleterious(0.04)	0,1	FPPS_HUMAN	FDPS	HGNC	P14324	FPPS_HUMAN	Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)				5	751	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		UPI000006E4F7	178				Dimethylallyl diphosphate.	SNV	FDPS,missense_variant,p.Arg178Cys,ENST00000356657,NM_001135821.1;FDPS,missense_variant,p.Arg178Cys,ENST00000368356,NM_002004.3;FDPS,missense_variant,p.Arg112Cys,ENST00000447866,NM_001242825.1,NM_001135822.1,NM_001242824.1;RUSC1,upstream_gene_variant,,ENST00000368352,NM_001105203.1;RUSC1,upstream_gene_variant,,ENST00000368354,NM_001105204.1;RUSC1-AS1,non_coding_transcript_exon_variant,,ENST00000446880,;RUSC1-AS1,non_coding_transcript_exon_variant,,ENST00000543656,;RUSC1-AS1,non_coding_transcript_exon_variant,,ENST00000443642,;RUSC1-AS1,downstream_gene_variant,,ENST00000450199,;FDPS,non_coding_transcript_exon_variant,,ENST00000461507,;FDPS,non_coding_transcript_exon_variant,,ENST00000489003,;FDPS,non_coding_transcript_exon_variant,,ENST00000468479,;FDPS,non_coding_transcript_exon_variant,,ENST00000491013,;FDPS,non_coding_transcript_exon_variant,,ENST00000467076,;FDPS,non_coding_transcript_exon_variant,,ENST00000495308,;FDPS,non_coding_transcript_exon_variant,,ENST00000470171,;FDPS,non_coding_transcript_exon_variant,,ENST00000477057,;FDPS,non_coding_transcript_exon_variant,,ENST00000474345,;FDPS,non_coding_transcript_exon_variant,,ENST00000471117,;FDPS,upstream_gene_variant,,ENST00000490140,;FDPS,downstream_gene_variant,,ENST00000465559,;FDPS,upstream_gene_variant,,ENST00000492244,;FDPS,upstream_gene_variant,,ENST00000492887,;FDPS,upstream_gene_variant,,ENST00000489324,;	uc001fkc.2	c.532C>T	694/1478	2	2			c.532C>T						1	SNP	c.(532-534)CGC>TGC	42	42				0	Broad	farnesyl diphosphate synthase isoform a		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	155287783		0.512	ENSG00000160752	5701	g.chr1:155287783C>T	cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding							113.834926	KEEP	22	26	-1	52	45	22	26	-1	117.34747	52	45	0.316239	1	0	0	0	0	1	0	0	0	--	--		0	T			RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.R112C|FDPS_uc001fke.2_Missense_Mutation_p.R178C|FDPS_uc001fkf.2_Missense_Mutation_p.R112C|C1orf104_uc001fkh.1_RNA|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank	118	GBM-12-0616-TP	p.R178C	C	ATCCCTTACCCGCCGGGGACA	NM_002004	NP_001995	155287783	P14324	FPPS_HUMAN	0	Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		5	751	+	T	T	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Missense_Mutation	178				Dimethylallyl diphosphate.		
FDPS	0	broad.mit.edu	GRCh37	1	155288033	155288033	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-27-1837-01	TCGA-27-1837-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356657.6:c.635A>G	p.Tyr212Cys	p.Y212C	ENST00000356657	NM_001135821.1	212	tAt/tGt	0			1			G	Y/C	uc001fkc.2	protein_coding	YES	CCDS1110.1			635/1260										0	c.(634-636)TAT>TGT			Gene3D:1.10.600.10,Pfam_domain:PF00348,hmmpanther:PTHR11525,hmmpanther:PTHR11525:SF0,Superfamily_domains:SSF48576	farnesyl diphosphate synthase isoform a	Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)			ENSP00000349078		11-Jun									COSM3399798	11-Jun	.		ENST00000356657	Transcript			cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding	ENSG00000160752	g.chr1:155288033A>G	3631			MODERATE		1.925	medium	getma.org/?cm=msa&ty=f&p=FPPS_HUMAN&rb=110&re=382&var=Y212C	getma.org/pdb.php?prot=FPPS_HUMAN&from=110&to=382&var=Y212C	getma.org/?cm=var&var=hg19,1,155288033,A,G&fts=all	Y212C	--	--	1																																		RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.Y146C|FDPS_uc001fke.2_Missense_Mutation_p.Y212C|FDPS_uc001fkf.2_Missense_Mutation_p.Y146C|C1orf104_uc001fkh.1_Intron|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank	1	1		benign(0.352)	p.Y212C	NM_002004	NP_001995		deleterious(0.02)	1	FPPS_HUMAN	FDPS	HGNC	P14324	FPPS_HUMAN	Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)				6	854	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		UPI000006E4F7	212					SNV	FDPS,missense_variant,p.Tyr212Cys,ENST00000356657,NM_001135821.1;FDPS,missense_variant,p.Tyr212Cys,ENST00000368356,NM_002004.3;FDPS,missense_variant,p.Tyr146Cys,ENST00000447866,NM_001242825.1,NM_001135822.1,NM_001242824.1;RUSC1,upstream_gene_variant,,ENST00000368352,NM_001105203.1;RUSC1,upstream_gene_variant,,ENST00000368354,NM_001105204.1;RUSC1-AS1,non_coding_transcript_exon_variant,,ENST00000543656,;RUSC1-AS1,intron_variant,,ENST00000446880,;RUSC1-AS1,intron_variant,,ENST00000443642,;RUSC1-AS1,downstream_gene_variant,,ENST00000450199,;FDPS,non_coding_transcript_exon_variant,,ENST00000461507,;FDPS,non_coding_transcript_exon_variant,,ENST00000489003,;FDPS,non_coding_transcript_exon_variant,,ENST00000468479,;FDPS,non_coding_transcript_exon_variant,,ENST00000491013,;FDPS,non_coding_transcript_exon_variant,,ENST00000467076,;FDPS,non_coding_transcript_exon_variant,,ENST00000495308,;FDPS,non_coding_transcript_exon_variant,,ENST00000470171,;FDPS,non_coding_transcript_exon_variant,,ENST00000477057,;FDPS,non_coding_transcript_exon_variant,,ENST00000474345,;FDPS,non_coding_transcript_exon_variant,,ENST00000492244,;FDPS,non_coding_transcript_exon_variant,,ENST00000471117,;FDPS,non_coding_transcript_exon_variant,,ENST00000492887,;RUSC1,upstream_gene_variant,,ENST00000484664,;RUSC1,upstream_gene_variant,,ENST00000467820,;FDPS,upstream_gene_variant,,ENST00000490140,;FDPS,downstream_gene_variant,,ENST00000465559,;FDPS,upstream_gene_variant,,ENST00000489324,;	uc001fkc.2	c.635A>G	797/1478	3	3			c.635A>G						1	SNP	c.(634-636)TAT>TGT	52	52				0	Broad	farnesyl diphosphate synthase isoform a		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	155288033		0.552	ENSG00000160752	5701	g.chr1:155288033A>G	cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding							183.956514	KEEP	27	35	-1	48	47	27	35	-1	185.487309	48	47	0.390411	1	0	0	0	0	1	0	0	0	--	--		0	G			RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.Y146C|FDPS_uc001fke.2_Missense_Mutation_p.Y212C|FDPS_uc001fkf.2_Missense_Mutation_p.Y146C|C1orf104_uc001fkh.1_Intron|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank	196	GBM-27-1837-TP	p.Y212C	A	CTGAAGCTCTATTGCCGGGAG	NM_002004	NP_001995	155288033	P14324	FPPS_HUMAN	0	Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		6	854	+	G	G	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Missense_Mutation	212						
FECH	0	broad.mit.edu	GRCh37	18	55230200	55230200	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-41-3392-01	TCGA-41-3392-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262093.5:c.611A>G	p.Asn204Ser	p.N204S	ENST00000262093	NM_000140.3	204	aAt/aGt	0			1			C	N/S	uc002lgq.3	protein_coding		CCDS11964.1			611/1272									central_nervous_system(1)	1	c.(610-612)AAT>AGT			Superfamily_domains:SSF53800,Gene3D:3.40.50.1400,Pfam_domain:PF00762,TIGRFAM_domain:TIGR00109,hmmpanther:PTHR11108:SF1,hmmpanther:PTHR11108,HAMAP:MF_00323	ferrochelatase isoform b precursor				ENSP00000262093		11-Jun									COSM3403580	11-Jun	.		ENST00000262093	Transcript	1		generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding	ENSG00000066926	g.chr18:55230200T>C	3647			MODERATE		2.93	medium	getma.org/?cm=msa&ty=f&p=HEMH_HUMAN&rb=68&re=389&var=N204S	getma.org/pdb.php?prot=HEMH_HUMAN&from=68&to=389&var=N204S	getma.org/?cm=var&var=hg19,18,55230200,T,C&fts=all	N204S	--	--	1																																		FECH_uc002lgp.3_Missense_Mutation_p.N210S|FECH_uc002lgr.3_Missense_Mutation_p.N62S	1			probably_damaging(0.99)	p.N204S	NM_000140	NP_000131		deleterious(0.01)	1	HEMH_HUMAN	FECH	HGNC	P22830	HEMH_HUMAN			Q8TD50_HUMAN,Q7KZA3_HUMAN,K7EPN2_HUMAN,B4DSA4_HUMAN		6	728	-		Colorectal(73;0.227)	UPI000013D257	204					SNV	FECH,missense_variant,p.Asn204Ser,ENST00000262093,NM_000140.3,NM_001012515.2;FECH,missense_variant,p.Asn210Ser,ENST00000382873,;FECH,missense_variant,p.Asn204Ser,ENST00000592699,;FECH,downstream_gene_variant,,ENST00000591215,;FECH,downstream_gene_variant,,ENST00000585747,;FECH,upstream_gene_variant,,ENST00000591977,;FECH,downstream_gene_variant,,ENST00000585699,;FECH,3_prime_UTR_variant,,ENST00000585494,;	uc002lgq.3	c.611A>G	763/3853	4	4			c.611A>G						18	SNP	c.(610-612)AAT>AGT	33	33			central_nervous_system(1)	1	Broad	ferrochelatase isoform b precursor			55230200		0.408	ENSG00000066926	5706	g.chr18:55230200T>C	generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding							53.105581	KEEP	11	6	-1	20	19	11	6	-1	55.039581	20	19	0.294118	1	0	0	0	0	1	0	0	0	--	--		0	C			FECH_uc002lgp.3_Missense_Mutation_p.N210S|FECH_uc002lgr.3_Missense_Mutation_p.N62S	254	GBM-41-3392-TP	p.N204S	T	GTAAATGGCATTTAAGCTGCT	NM_000140	NP_000131	55230200	P22830	HEMH_HUMAN	0			6	728	-	C	C		Colorectal(73;0.227)	Missense_Mutation	204						
FER1L6	0	broad.mit.edu	GRCh37	8	125110059	125110059	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-14-0813-01	TCGA-14-0813-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399018.1:c.4818A>G	p.Glu1606=	p.E1606=	ENST00000399018		1606	gaA/gaG	0			1			G	E	uc003yqw.2	protein_coding		CCDS43767.1			4818/5574									ovary(5)|skin(5)|central_nervous_system(1)	11	c.(4816-4818)GAA>GAG			PROSITE_profiles:PS50004,hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF37,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	fer-1-like 6				ENSP00000381982		36/40									COSM3412742	36/40	.		ENST00000399018	Transcript				integral to membrane		ENSG00000214814	g.chr8:125110059A>G	28065			LOW								--	--	1																																		uc003yqy.1_Intron	1				p.E1606E	NM_001039112	NP_001034201			1	FR1L6_HUMAN	FER1L6	HGNC	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)				37	5024	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		UPI0000E9B4AA	1606			C2 6.|Cytoplasmic (Potential).		SNV	FER1L6,synonymous_variant,p.=,ENST00000522917,NM_001039112.2;FER1L6,synonymous_variant,p.=,ENST00000399018,;FER1L6-AS2,intron_variant,,ENST00000520031,;	uc003yqw.2	c.4818A>G	4832/5859	3	3			c.4818A>G						8	SNP	c.(4816-4818)GAA>GAG	55	55			ovary(5)|skin(5)|central_nervous_system(1)	11	Broad	fer-1-like 6			125110059		0.423	ENSG00000214814	5713	g.chr8:125110059A>G		integral to membrane								-12.752093	KEEP	3	0	-1	49	55	3	0	-1	7.198306	49	55	0.035294	1	0	0	0	0	0	0	1	0	--	--		0	G			uc003yqy.1_Intron	138	GBM-14-0813-TP	p.E1606E	A	GGAACACTGAAGATGTCATTT	NM_001039112	NP_001034201	125110059	Q2WGJ9	FR1L6_HUMAN	0	STAD - Stomach adenocarcinoma(47;0.00186)		37	5024	+	G	G	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		Silent	1606			C2 6.|Cytoplasmic (Potential).			
FER1L6	0	broad.mit.edu	GRCh37	8	125047566	125047566	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2629-01	TCGA-19-2629-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399018.1:c.2335G>A	p.Val779Met	p.V779M	ENST00000399018		779	Gtg/Atg	0			1			A	V/M	uc003yqw.2	protein_coding		CCDS43767.1			2335/5574									ovary(5)|skin(5)|central_nervous_system(1)	11	c.(2335-2337)GTG>ATG			hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF37,Pfam_domain:PF08150	fer-1-like 6				ENSP00000381982		18/40									COSM3412741	18/40	.		ENST00000399018	Transcript				integral to membrane		ENSG00000214814	g.chr8:125047566G>A	28065			MODERATE		2.1	medium	getma.org/?cm=msa&ty=f&p=FR1L6_HUMAN&rb=712&re=786&var=V779M	NA	getma.org/?cm=var&var=hg19,8,125047566,G,A&fts=all	V779M	--	--	1																																		uc003yqx.1_Intron	1			benign(0.439)	p.V779M	NM_001039112	NP_001034201		tolerated(0.1)	1	FR1L6_HUMAN	FER1L6	HGNC	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)				19	2541	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		UPI0000E9B4AA	779			Cytoplasmic (Potential).		SNV	FER1L6,missense_variant,p.Val779Met,ENST00000522917,NM_001039112.2;FER1L6,missense_variant,p.Val779Met,ENST00000399018,;FER1L6-AS1,intron_variant,,ENST00000518567,;RP11-959I15.4,downstream_gene_variant,,ENST00000522005,;	uc003yqw.2	c.2335G>A	2349/5859	2	2			c.2335G>A						8	SNP	c.(2335-2337)GTG>ATG	46	46			ovary(5)|skin(5)|central_nervous_system(1)	11	Broad	fer-1-like 6			125047566		0.493	ENSG00000214814	5713	g.chr8:125047566G>A		integral to membrane								24.641876	KEEP	12	7	-1	54	51	12	7	-1	37.699282	54	51	0.146789	1	0	0	0	0	1	0	0	0	--	--		0	A			uc003yqx.1_Intron	166	GBM-19-2629-TP	p.V779M	G	AAAAGTCGACGTGTACCTGTG	NM_001039112	NP_001034201	125047566	Q2WGJ9	FR1L6_HUMAN	0	STAD - Stomach adenocarcinoma(47;0.00186)		19	2541	+	A	A	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		Missense_Mutation	779			Cytoplasmic (Potential).			
FER1L6	0	broad.mit.edu	GRCh37	8	124992825	124992825	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01	TCGA-26-6174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399018.1:c.1184G>A	p.Gly395Asp	p.G395D	ENST00000399018		395	gGc/gAc	0			1			A	G/D	uc003yqw.2	protein_coding		CCDS43767.1			1184/5574									ovary(5)|skin(5)|central_nervous_system(1)	11	c.(1183-1185)GGC>GAC			hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF37	fer-1-like 6				ENSP00000381982		Oct-40	1.66E-05					3.00E-05			rs756831243,COSM3412740	Oct-40	.		ENST00000399018	Transcript				integral to membrane		ENSG00000214814	g.chr8:124992825G>A	28065			MODERATE		2.95	medium	getma.org/?cm=msa&ty=f&p=FR1L6_HUMAN&rb=340&re=539&var=G395D	NA	getma.org/?cm=var&var=hg19,8,124992825,G,A&fts=all	G395D	--	--	1																																OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		0,1			probably_damaging(1)	p.G395D	NM_001039112	NP_001034201		deleterious(0)	0,1	FR1L6_HUMAN	FER1L6	HGNC	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)				11	1390	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		UPI0000E9B4AA	395			Cytoplasmic (Potential).		SNV	FER1L6,missense_variant,p.Gly395Asp,ENST00000522917,NM_001039112.2;FER1L6,missense_variant,p.Gly395Asp,ENST00000399018,;FER1L6-AS1,downstream_gene_variant,,ENST00000518567,;	uc003yqw.2	c.1184G>A	1198/5859	2	2			c.1184G>A						8	SNP	c.(1183-1185)GGC>GAC	47	47			ovary(5)|skin(5)|central_nervous_system(1)	11	Broad	fer-1-like 6			124992825		0.507	ENSG00000214814	5713	g.chr8:124992825G>A		integral to membrane								87.754845	KEEP	21	30	-1	86	87	21	30	-1	102.840955	86	87	0.208333	1	0	0	0	0	1	0	0	0	--	--		0	A	OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		188	GBM-26-6174-TP	p.G395D	G	TCATTCAGGGGCAGAATCTTG	NM_001039112	NP_001034201	124992825	Q2WGJ9	FR1L6_HUMAN	0	STAD - Stomach adenocarcinoma(47;0.00186)		11	1390	+	A	A	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		Missense_Mutation	395			Cytoplasmic (Potential).			
FER1L6	0	broad.mit.edu	GRCh37	8	125110086	125110086	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-27-2519-01	TCGA-27-2519-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399018.1:c.4845C>A	p.Ile1615=	p.I1615=	ENST00000399018		1615	atC/atA	0			1			A	I	uc003yqw.2	protein_coding		CCDS43767.1			4845/5574									ovary(5)|skin(5)|central_nervous_system(1)	11	c.(4843-4845)ATC>ATA			PROSITE_profiles:PS50004,hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF37,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	fer-1-like 6				ENSP00000381982		36/40									COSM1095854	36/40	.		ENST00000399018	Transcript				integral to membrane		ENSG00000214814	g.chr8:125110086C>A	28065			LOW								--	--	1																																		uc003yqy.1_Intron	1				p.I1615I	NM_001039112	NP_001034201			1	FR1L6_HUMAN	FER1L6	HGNC	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)				37	5051	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		UPI0000E9B4AA	1615			C2 6.|Cytoplasmic (Potential).		SNV	FER1L6,synonymous_variant,p.=,ENST00000522917,NM_001039112.2;FER1L6,synonymous_variant,p.=,ENST00000399018,;FER1L6-AS2,intron_variant,,ENST00000520031,;	uc003yqw.2	c.4845C>A	4859/5859	1	1			c.4845C>A						8	SNP	c.(4843-4845)ATC>ATA	61	61			ovary(5)|skin(5)|central_nervous_system(1)	11	Broad	fer-1-like 6			125110086		0.408	ENSG00000214814	5713	g.chr8:125110086C>A		integral to membrane								123.521985	KEEP	16	38	0.703703704	39	65	16	38	0.703703704	127.099293	39	65	0.328467	1	0	0	0	0	0	0	1	0	--	--		0	A			uc003yqy.1_Intron	199	GBM-27-2519-TP	p.I1615I	C	ATGAGAATATCTTCACAGGCC	NM_001039112	NP_001034201	125110086	Q2WGJ9	FR1L6_HUMAN	0	STAD - Stomach adenocarcinoma(47;0.00186)		37	5051	+	A	A	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		Silent	1615			C2 6.|Cytoplasmic (Potential).			
FER1L6	654463		GRCh37	8	125131850	125131850	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000522917.1:c.5393G>A	p.Arg1798His	p.R1798H	ENST00000522917	NM_001039112.2	1798	cGc/cAc	0																																																																																																																																																																																																																																												
FER1L6	654463		GRCh37	8	125131869	125131869	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000522917.1:c.5412G>A	p.Ser1804=	p.S1804=	ENST00000522917	NM_001039112.2	1804	tcG/tcA	0																																																																																																																																																																																																																																												
FERD3L	0	broad.mit.edu	GRCh37	7	19184907	19184907	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01	TCGA-14-1823-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275461.3:c.79C>T	p.Arg27Cys	p.R27C	ENST00000275461	NM_152898.2	27	Cgc/Tgc	0			1			A	R/C	uc003suo.1	protein_coding	YES	CCDS5368.1			79/501									large_intestine(1)	1	c.(79-81)CGC>TGC			hmmpanther:PTHR23349,hmmpanther:PTHR23349:SF46	nephew of atonal 3				ENSP00000275461		1-Jan									COSM3307396	1-Jan	.		ENST00000275461	Transcript			negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	ENSG00000146618	g.chr7:19184907G>A	16660			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=FER3L_HUMAN&rb=1&re=101&var=R27C	NA	getma.org/?cm=var&var=hg19,7,19184907,G,A&fts=all	R27C	--	--	1																																		uc003sun.1_RNA	1	1		benign(0.001)	p.R27C	NM_152898	NP_690862		deleterious(0.04)	1	FER3L_HUMAN	FERD3L	HGNC	Q96RJ6	FER3L_HUMAN					1	138	-			UPI0000073BBA	27					SNV	FERD3L,missense_variant,p.Arg27Cys,ENST00000275461,NM_152898.2;AC003986.5,non_coding_transcript_exon_variant,,ENST00000452700,;	uc003suo.1	c.79C>T	138/640	2	2			c.79C>T						7	SNP	c.(79-81)CGC>TGC	47	47			large_intestine(1)	1	Broad	nephew of atonal 3			19184907		0.652	ENSG00000146618	5714	g.chr7:19184907G>A	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding							11.127975	KEEP	14	5	-1	86	64	14	5	-1	34.582962	86	64	0.101351	1	0	0	0	0	1	0	0	0	--	--		0	A			uc003sun.1_RNA	147	GBM-14-1823-TP	p.R27C	G	AGGAGAGGGCGTCTCGGGGAG	NM_152898	NP_690862	19184907	Q96RJ6	FER3L_HUMAN	0			1	138	-	A	A			Missense_Mutation	27						
FETUB	26998	broad.mit.edu	GRCh37	3	186362610	186362610	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0154-01	TCGA-06-0154-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265029.3:c.495C>A	p.His165Gln	p.H165Q	ENST00000265029	NM_014375.2	165	caC/caA	0			1			A	H/Q	uc010hyq.2	protein_coding	YES	CCDS3279.1			495/1149									ovary(1)|lung(1)	2	c.(493-495)CAC>CAA			Superfamily_domains:SSF54403,SMART_domains:SM00043,Gene3D:3.10.450.10,Pfam_domain:PF00031,hmmpanther:PTHR13814,hmmpanther:PTHR13814:SF10,PROSITE_profiles:PS51530	fetuin B precursor				ENSP00000265029		7-Apr									COSM2149909	7-Apr	.		ENST00000265029	Transcript				extracellular space	cysteine-type endopeptidase inhibitor activity	ENSG00000090512	g.chr3:186362610C>A	3658			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=FETUB_HUMAN&rb=154&re=246&var=H165Q	getma.org/pdb.php?prot=FETUB_HUMAN&from=154&to=246&var=H165Q	getma.org/?cm=var&var=hg19,3,186362610,C,A&fts=all	H165Q	--	--	1																																		FETUB_uc011brz.1_Missense_Mutation_p.H17Q|FETUB_uc003fqn.2_Missense_Mutation_p.H165Q|FETUB_uc003fqo.2_Missense_Mutation_p.H60Q|FETUB_uc010hyr.2_Missense_Mutation_p.H128Q|FETUB_uc010hys.2_Missense_Mutation_p.H17Q|FETUB_uc003fqp.3_Missense_Mutation_p.H100Q	1	1		benign(0.002)	p.H165Q	NM_014375	NP_055190		deleterious(0.03)	1	FETUB_HUMAN	FETUB	HGNC	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	C9JC68_HUMAN,B7Z8T3_HUMAN		5	756	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		UPI00000361F3	165			Cystatin fetuin-B-type 2.		SNV	FETUB,missense_variant,p.His165Gln,ENST00000265029,NM_014375.2;FETUB,missense_variant,p.His17Gln,ENST00000539949,;FETUB,missense_variant,p.His165Gln,ENST00000450521,;FETUB,missense_variant,p.His100Gln,ENST00000382134,;FETUB,missense_variant,p.His128Gln,ENST00000382136,;FETUB,missense_variant,p.His17Gln,ENST00000431018,;RP11-134F2.2,intron_variant,,ENST00000428501,;RP11-134F2.2,intron_variant,,ENST00000455926,;FETUB,non_coding_transcript_exon_variant,,ENST00000488561,;FETUB,3_prime_UTR_variant,,ENST00000435961,;FETUB,3_prime_UTR_variant,,ENST00000420570,;	uc010hyq.2	c.495C>A	596/1627	2	2			c.495C>A						3	SNP	c.(493-495)CAC>CAA	48	48			ovary(1)|lung(1)	2	Broad	fetuin B precursor			186362610		0.443	ENSG00000090512	5719	g.chr3:186362610C>A		extracellular space	cysteine-type endopeptidase inhibitor activity							176.900121	KEEP	32	39	0.549295775	72	59	32	39	0.549295775	180.336995	72	59	0.347305	1	0	0	0	0	1	0	0	0	--	--		0	A			FETUB_uc011brz.1_Missense_Mutation_p.H17Q|FETUB_uc003fqn.2_Missense_Mutation_p.H165Q|FETUB_uc003fqo.2_Missense_Mutation_p.H60Q|FETUB_uc010hyr.2_Missense_Mutation_p.H128Q|FETUB_uc010hys.2_Missense_Mutation_p.H17Q|FETUB_uc003fqp.3_Missense_Mutation_p.H100Q	26	GBM-06-0154-TP	p.H165Q	C	CTTCCAATCACCAAGTGCTGG	NM_014375	NP_055190	186362610	Q9UGM5	FETUB_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	5	756	+	A	A	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		Missense_Mutation	165			Cystatin fetuin-B-type 2.			
FEZ1	9638		GRCh37	11	125359436	125359436	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000278919.3:c.238A>C	p.Lys80Gln	p.K80Q	ENST00000278919	NM_005103.4	80	Aag/Cag	0																																																																																																																																																																																																																																												
FEZ2	9637	broad.mit.edu	GRCh37	2	36810520	36810520	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0152-01	TCGA-06-0152-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379245.4:c.468T>G	p.Asp156Glu	p.D156E	ENST00000379245	NM_001042548.1	156	gaT/gaG	0			1			C	D/E	uc002rph.2	protein_coding		CCDS46257.1			468/1062									ovary(1)	1	c.(466-468)GAT>GAG			Pfam_domain:PF07763,hmmpanther:PTHR12394,hmmpanther:PTHR12394:SF11	zygin 2 isoform 1				ENSP00000385112		8-Mar									COSM2149837	8-Mar	.		ENST00000405912	Transcript			axon guidance|signal transduction		protein binding	ENSG00000171055	g.chr2:36810520A>C	3660			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=FEZ2_HUMAN&rb=46&re=289&var=D156E	NA	getma.org/?cm=var&var=hg19,2,36810520,A,C&fts=all	D156E	--	--	1																																		FEZ2_uc002rpe.2_5'Flank|FEZ2_uc002rpf.2_5'UTR|FEZ2_uc002rpg.2_Missense_Mutation_p.D156E|FEZ2_uc002rpi.2_Missense_Mutation_p.D11E|FEZ2_uc002rpj.2_Missense_Mutation_p.D156E	1			benign(0.01)	p.D156E	NM_005102	NP_005093		tolerated(1)	1	FEZ2_HUMAN	FEZ2	HGNC	Q9UHY8	FEZ2_HUMAN			Q7Z674_HUMAN,Q6P2J5_HUMAN,F8WB37_HUMAN,F8W6C0_HUMAN		3	515	-		all_hematologic(82;0.21)	UPI00002317C8	156					SNV	FEZ2,missense_variant,p.Asp156Glu,ENST00000379245,NM_001042548.1;FEZ2,missense_variant,p.Asp156Glu,ENST00000405912,NM_005102.2;FEZ2,missense_variant,p.Asp55Glu,ENST00000357996,;FEZ2,5_prime_UTR_variant,,ENST00000305852,;FEZ2,upstream_gene_variant,,ENST00000441005,;FEZ2,non_coding_transcript_exon_variant,,ENST00000464964,;FEZ2,upstream_gene_variant,,ENST00000487282,;FEZ2,missense_variant,p.Asp55Glu,ENST00000413938,;FEZ2,missense_variant,p.Asp156Glu,ENST00000451623,;FEZ2,upstream_gene_variant,,ENST00000414288,;	uc002rph.2	c.468T>G	468/1931	3	3			c.468T>G						2	SNP	c.(466-468)GAT>GAG	62	62			ovary(1)	1	Broad	zygin 2 isoform 1			36810520		0.438	ENSG00000171055	5722	g.chr2:36810520A>C	axon guidance|signal transduction		protein binding							111.646436	KEEP	19	21	-1	47	57	19	21	-1	117.466881	47	57	0.276923	1	0	0	0	0	1	0	0	0	--	--		0	C			FEZ2_uc002rpe.2_5'Flank|FEZ2_uc002rpf.2_5'UTR|FEZ2_uc002rpg.2_Missense_Mutation_p.D156E|FEZ2_uc002rpi.2_Missense_Mutation_p.D11E|FEZ2_uc002rpj.2_Missense_Mutation_p.D156E	25	GBM-06-0152-TP	p.D156E	A	AGAGGGGTTCATCATTAACAC	NM_005102	NP_005093	36810520	Q9UHY8	FEZ2_HUMAN	0			3	515	-	C	C		all_hematologic(82;0.21)	Missense_Mutation	156						
FFAR2	2867	broad.mit.edu	GRCh37	19	35940788	35940790	+	inframe_deletion	In_Frame_Del	DEL	CTG	CTG	-			TCGA-06-0645-01	TCGA-06-0645-01	CTG	CTG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000599180.2:c.185_187del	p.Leu62del	p.L62del	ENST00000599180		58	CTG/-	0			1			-	L/-	uc002nzg.2	protein_coding		CCDS12461.1			172-174/993									central_nervous_system(1)	1	c.(172-174)CTGdel			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24231:SF8,hmmpanther:PTHR24231,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	free fatty acid receptor 2				ENSP00000246549		1-Jan	0.0186	0.0167	0.024	0.0229	0.0182	0.0176	0.021	0.0212	rs765476776	1-Jan	common_variant		ENST00000246549	Transcript				integral to plasma membrane	G-protein coupled receptor activity|lipid binding	ENSG00000126262	g.chr19:35940788_35940790delCTG	4501	13		MODERATE								--	--	1																																		FFAR2_uc010eea.2_In_Frame_Del_p.L62del					p.L62del	NM_005306	NP_005297				FFAR2_HUMAN	FFAR2	HGNC	O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		C6KYL4_HUMAN		2	252_254	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		UPI0000050459	62			Helical; Name=2; (Potential).		deletion	FFAR2,inframe_deletion,p.Leu62del,ENST00000599180,;FFAR2,inframe_deletion,p.Leu62del,ENST00000246549,NM_005306.2;FFAR2,intron_variant,,ENST00000601590,;	uc002nzg.2	c.172_174delCTG	172-174/2051	5	5			c.172_174delCTG						19	DEL	c.(172-174)CTGdel	45	45			central_nervous_system(1)	1	Broad	free fatty acid receptor 2			35940790		0.645	ENSG00000126262	5726	g.chr19:35940788_35940790delCTG		integral to plasma membrane	G-protein coupled receptor activity|lipid binding	GBM(40;139 809 9833 23358 48736)		34	GBM(40;139 809 9833 23358 48736)		34														0.08	1	1	0	1	0	0	0	0	0	--	--		0	-			FFAR2_uc010eea.2_In_Frame_Del_p.L62del	59	GBM-06-0645-TP	p.L62del	CTG	CGACCTCCTCCTGCTGCTGCTGC	NM_005306	NP_005297	35940788	O15552	FFAR2_HUMAN	0	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	252_254	+	-	-	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		In_Frame_Del	62			Helical; Name=2; (Potential).			
FFAR2	0	broad.mit.edu	GRCh37	19	35940986	35940986	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-2502-01	TCGA-28-2502-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000246549.2:c.370C>T	p.Leu124=	p.L124=	ENST00000246549	NM_005306.2	124	Ctg/Ttg	0			1			T	L	uc002nzg.2	protein_coding		CCDS12461.1			370/993									central_nervous_system(1)	1	c.(370-372)CTG>TTG			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24231:SF8,hmmpanther:PTHR24231,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	free fatty acid receptor 2				ENSP00000246549		1-Jan									COSM3404126	1-Jan	.		ENST00000246549	Transcript				integral to plasma membrane	G-protein coupled receptor activity|lipid binding	ENSG00000126262	g.chr19:35940986C>T	4501			LOW								--	--	1																																		FFAR2_uc010eea.2_Silent_p.L124L	1				p.L124L	NM_005306	NP_005297			1	FFAR2_HUMAN	FFAR2	HGNC	O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		C6KYL4_HUMAN		2	450	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		UPI0000050459	124			Cytoplasmic (Potential).		SNV	FFAR2,synonymous_variant,p.=,ENST00000599180,;FFAR2,synonymous_variant,p.=,ENST00000246549,NM_005306.2;FFAR2,intron_variant,,ENST00000601590,;	uc002nzg.2	c.370C>T	370/2051	1	1			c.370C>T						19	SNP	c.(370-372)CTG>TTG	16	16			central_nervous_system(1)	1	Broad	free fatty acid receptor 2			35940986		0.577	ENSG00000126262	5726	g.chr19:35940986C>T		integral to plasma membrane	G-protein coupled receptor activity|lipid binding	GBM(40;139 809 9833 23358 48736)		34	GBM(40;139 809 9833 23358 48736)		34	71.036842	KEEP	16	16	-1	49	63	16	16	-1	78.299322	49	63	0.239316	1	0	0	0	0	0	0	1	0	--	--		0	T			FFAR2_uc010eea.2_Silent_p.L124L	210	GBM-28-2502-TP	p.L124L	C	CCGCCGGCCTCTGTATGGAGT	NM_005306	NP_005297	35940986	O15552	FFAR2_HUMAN	0	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	450	+	T	T	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		Silent	124			Cytoplasmic (Potential).			
FFAR2	0	broad.mit.edu	GRCh37	19	35941517	35941517	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01	TCGA-28-2514-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000246549.2:c.901C>T	p.Arg301Cys	p.R301C	ENST00000246549	NM_005306.2	301	Cgc/Tgc	0		T:0	1	T:0		T	R/C	uc002nzg.2	protein_coding		CCDS12461.1			901/993									central_nervous_system(1)	1	c.(901-903)CGC>TGC			hmmpanther:PTHR24231:SF8,hmmpanther:PTHR24231	free fatty acid receptor 2		T:0		ENSP00000246549	T:0	1-Jan	9.88E-05		0.000259			0.000105		0.000121	rs574975926,COSM3404127	1-Jan	.		ENST00000246549	Transcript		T:0.0002		integral to plasma membrane	G-protein coupled receptor activity|lipid binding	ENSG00000126262	g.chr19:35941517C>T	4501			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=FFAR2_HUMAN&rb=274&re=330&var=R301C	NA	getma.org/?cm=var&var=hg19,19,35941517,C,T&fts=all	R301C	--	--	1																																		FFAR2_uc010eea.2_Missense_Mutation_p.R301C	0,1			benign(0.003)	p.R301C	NM_005306	NP_005297	T:0.001	tolerated(0.29)	0,1	FFAR2_HUMAN	FFAR2	HGNC	O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		C6KYL4_HUMAN		2	981	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		UPI0000050459	301			Cytoplasmic (Potential).		SNV	FFAR2,missense_variant,p.Arg301Cys,ENST00000599180,;FFAR2,missense_variant,p.Arg301Cys,ENST00000246549,NM_005306.2;FFAR2,intron_variant,,ENST00000601590,;	uc002nzg.2	c.901C>T	901/2051	2	2			c.901C>T						19	SNP	c.(901-903)CGC>TGC	32	32			central_nervous_system(1)	1	Broad	free fatty acid receptor 2			35941517		0.567	ENSG00000126262	5726	g.chr19:35941517C>T		integral to plasma membrane	G-protein coupled receptor activity|lipid binding	GBM(40;139 809 9833 23358 48736)		34	GBM(40;139 809 9833 23358 48736)		34	216.317597	KEEP	43	41	-1	93	104	43	41	-1	225.163996	93	104	0.305344	1	0	0	0	0	1	0	0	0	--	--		0	T			FFAR2_uc010eea.2_Missense_Mutation_p.R301C	214	GBM-28-2514-TP	p.R301C	C	CCTGTTGGGACGCAGAGGCAA	NM_005306	NP_005297	35941517	O15552	FFAR2_HUMAN	0	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	981	+	T	T	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		Missense_Mutation	301			Cytoplasmic (Potential).			
FFAR3	2865	broad.mit.edu	GRCh37	19	35850542	35850542	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0237-01	TCGA-06-0237-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327809.4:c.750C>T	p.Ile250=	p.I250=	ENST00000327809	NM_005304.3	250	atC/atT	0			1			T	I	uc002nzd.2	protein_coding	YES	CCDS12459.1			750/1041										0	c.(748-750)ATC>ATT			PROSITE_profiles:PS50262,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF31,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	free fatty acid receptor 3				ENSP00000328230		2-Feb									COSM2151045	2-Feb	.		ENST00000327809	Transcript				integral to plasma membrane	G-protein coupled receptor activity|lipid binding	ENSG00000185897	g.chr19:35850542C>T	4499			LOW								--	--	1																																		FFAR3_uc010xsu.1_Intron	1	1			p.I250I	NM_005304	NP_005295			1	FFAR3_HUMAN	FFAR3	HGNC	O14843	FFAR3_HUMAN	Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)				2	825	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		UPI0000001C3F	250			Extracellular (Potential).		SNV	FFAR3,synonymous_variant,p.=,ENST00000327809,NM_005304.3;FFAR3,synonymous_variant,p.=,ENST00000594310,;	uc002nzd.2	c.750C>T	951/1796	1	1			c.750C>T						19	SNP	c.(748-750)ATC>ATT	7	7				0	Broad	free fatty acid receptor 3			35850542		0.612	ENSG00000185897	5727	g.chr19:35850542C>T		integral to plasma membrane	G-protein coupled receptor activity|lipid binding	Esophageal Squamous(185;1742 2042 21963 24215 27871)			Esophageal Squamous(185;1742 2042 21963 24215 27871)			251.493774	KEEP	72	57	-1	293	234	72	57	-1	296.90576	293	234	0.198885	1	0	0	0	0	0	0	1	0	--	--		0	T			FFAR3_uc010xsu.1_Intron	54	GBM-06-0237-TP	p.I250I	C	TGGGCTATATCTGCGGTGAAA	NM_005304	NP_005295	35850542	O14843	FFAR3_HUMAN	0	Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		2	825	+	T	T	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Silent	250			Extracellular (Potential).			
FFAR3	0	broad.mit.edu	GRCh37	19	35850547	35850547	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-74-6573-01	TCGA-74-6573-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327809.4:c.755G>T	p.Gly252Val	p.G252V	ENST00000327809	NM_005304.3	252	gGt/gTt	0			1			T	G/V	uc002nzd.2	protein_coding	YES	CCDS12459.1			755/1041										0	c.(754-756)GGT>GTT			PROSITE_profiles:PS50262,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF31,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	free fatty acid receptor 3				ENSP00000328230		2-Feb									COSM3404125	2-Feb	.		ENST00000327809	Transcript				integral to plasma membrane	G-protein coupled receptor activity|lipid binding	ENSG00000185897	g.chr19:35850547G>T	4499			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=GPR42_HUMAN&rb=31&re=276&var=G252V	getma.org/pdb.php?prot=GPR42_HUMAN&from=31&to=276&var=G252V	getma.org/?cm=var&var=hg19,19,35850547,G,T&fts=all	G252V	--	--	1																																		FFAR3_uc010xsu.1_Intron	1	1		possibly_damaging(0.555)	p.G252V	NM_005304	NP_005295		tolerated(0.19)	1	FFAR3_HUMAN	FFAR3	HGNC	O14843	FFAR3_HUMAN	Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)				2	830	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		UPI0000001C3F	252			Extracellular (Potential).		SNV	FFAR3,missense_variant,p.Gly252Val,ENST00000327809,NM_005304.3;FFAR3,missense_variant,p.Gly252Val,ENST00000594310,;	uc002nzd.2	c.755G>T	956/1796	1	1			c.755G>T						19	SNP	c.(754-756)GGT>GTT	7	7				0	Broad	free fatty acid receptor 3			35850547		0.607	ENSG00000185897	5727	g.chr19:35850547G>T		integral to plasma membrane	G-protein coupled receptor activity|lipid binding	Esophageal Squamous(185;1742 2042 21963 24215 27871)			Esophageal Squamous(185;1742 2042 21963 24215 27871)			138.485319	KEEP	31	30	0.508196721	90	84	31	30	0.508196721	147.644095	90	84	0.271795	1	0	0	0	0	1	0	0	0	--	--		0	T			FFAR3_uc010xsu.1_Intron	260	GBM-74-6573-TP	p.G252V	G	TATATCTGCGGTGAAAGCCCG	NM_005304	NP_005295	35850547	O14843	FFAR3_HUMAN	0	Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		2	830	+	T	T	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Missense_Mutation	252			Extracellular (Potential).			
FFAR4	338557	broad.mit.edu	GRCh37	10	95347103	95347103	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0184-01	TCGA-06-0184-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371483.4:c.871A>C	p.Ile291Leu	p.I291L	ENST00000371483	NM_181745.3	291	Atc/Ctc	0			1			C	I/L	uc010qnt.1	protein_coding	YES	CCDS31248.1			871/1134										0	c.(871-873)ATC>CTC			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24241:SF67,hmmpanther:PTHR24241,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	G protein-coupled receptor 120				ENSP00000360538		4-Apr									COSM3397315	4-Apr	.		ENST00000371483	Transcript	1		negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding	ENSG00000186188	g.chr10:95347103A>C	19061			MODERATE		0.835	low	getma.org/?cm=msa&ty=f&p=O3FA1_HUMAN&rb=57&re=337&var=I291L	getma.org/pdb.php?prot=O3FA1_HUMAN&from=57&to=337&var=I291L	getma.org/?cm=var&var=hg19,10,95347103,A,C&fts=all	I291L	--	--	1																																		GPR120_uc010qnu.1_Missense_Mutation_p.I275L	1	1		benign(0.075)	p.I291L	NM_181745	NP_859529		deleterious(0.04)	1	FFAR4_HUMAN	FFAR4	HGNC	Q5NUL3	O3FA1_HUMAN					4	927	+		Colorectal(252;0.122)	UPI00001C1EE5	291			Helical; Name=6; (Potential).		SNV	FFAR4,missense_variant,p.Ile291Leu,ENST00000371483,NM_181745.3;FFAR4,missense_variant,p.Ile275Leu,ENST00000371481,NM_001195755.1;FFAR4,intron_variant,,ENST00000604414,;RBP4,downstream_gene_variant,,ENST00000371467,;RBP4,downstream_gene_variant,,ENST00000371464,NM_006744.3;RBP4,downstream_gene_variant,,ENST00000371469,;	uc010qnt.1	c.871A>C	927/3653	3	3			c.871A>C						10	SNP	c.(871-873)ATC>CTC	6	6				0	Broad	G protein-coupled receptor 120			95347103		0.582	ENSG00000186188	6516	g.chr10:95347103A>C	negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding							-14.622043	KEEP	7	6	-1	114	118	7	6	-1	33.456025	114	118	0.056034	1	0	0	0	0	1	0	0	0	--	--		0	C			GPR120_uc010qnu.1_Missense_Mutation_p.I275L	39	GBM-06-0184-TP	p.I291L	A	CTCCTTCTTCATCATGTGGAG	NM_181745	NP_859529	95347103	Q5NUL3	O3FA1_HUMAN	0			4	927	+	C	C		Colorectal(252;0.122)	Missense_Mutation	291			Helical; Name=6; (Potential).			
FGA	2243	broad.mit.edu	GRCh37	4	155506815	155506815	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0881-01	TCGA-06-0881-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302053.3:c.1766A>G	p.Tyr589Cys	p.Y589C	ENST00000302053	NM_000508.3	589	tAc/tGc	0			1			C	Y/C	uc003iod.1	protein_coding	YES	CCDS3787.1			1766/2601									ovary(2)|breast(1)	3	c.(1765-1767)TAC>TGC			hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF172,Low_complexity_(Seg):seg	fibrinogen, alpha polypeptide isoform alpha-E	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)			ENSP00000306361		6-May									COSM3409105,COSM3409106	6-May	.		ENST00000302053	Transcript	1		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	ENSG00000171560	g.chr4:155506815T>C	3661			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=FIBA_HUMAN&rb=511&re=627&var=Y589C	NA	getma.org/?cm=var&var=hg19,4,155506815,T,C&fts=all	Y589C	2.78	medium	1																																		FGA_uc003ioe.1_Missense_Mutation_p.Y589C|FGA_uc003iof.1_3'UTR	1,1	1		possibly_damaging(0.626)	p.Y589C	NM_000508	NP_000499		deleterious(0.03)	1,1	FIBA_HUMAN	FGA	HGNC	P02671	FIBA_HUMAN			Q86Z09_HUMAN		5	1824	-	all_hematologic(180;0.215)	Renal(120;0.0458)	UPI000012A75A	589			By similarity.		SNV	FGA,missense_variant,p.Tyr589Cys,ENST00000302053,NM_000508.3;FGA,missense_variant,p.Tyr589Cys,ENST00000403106,NM_021871.2;	uc003iod.1	c.1766A>G	1845/3678	3	3			c.1766A>G						4	SNP	c.(1765-1767)TAC>TGC	59	59			ovary(2)|breast(1)	3	Broad	fibrinogen, alpha polypeptide isoform alpha-E		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	155506815		0.443	ENSG00000171560	5728	g.chr4:155506815T>C	platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	NSCLC(143;340 1922 20892 22370 48145)			NSCLC(143;340 1922 20892 22370 48145)			-23.261168	KEEP	6	2	-1	109	87	6	2	-1	20.360132	109	87	0.041451	1	0	0	0	0	1	0	0	0	2.78	medium		0	C			FGA_uc003ioe.1_Missense_Mutation_p.Y589C|FGA_uc003iof.1_3'UTR	76	GBM-06-0881-TP	p.Y589C	T	TCCTCTGTTGTAACTCGTGCT	NM_000508	NP_000499	155506815	P02671	FIBA_HUMAN	0			5	1824	-	C	C	all_hematologic(180;0.215)	Renal(120;0.0458)	Missense_Mutation	589			By similarity.			
FGA	0	broad.mit.edu	GRCh37	4	155508007	155508007	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01	TCGA-16-0861-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302053.3:c.574G>A	p.Val192Ile	p.V192I	ENST00000302053	NM_000508.3	192	Gta/Ata	0			1			T	V/I	uc003iod.1	protein_coding	YES	CCDS3787.1			574/2601									ovary(2)|breast(1)	3	c.(574-576)GTA>ATA			Gene3D:1.20.5.50,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF172,Superfamily_domains:SSF58010	fibrinogen, alpha polypeptide isoform alpha-E	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)			ENSP00000306361		6-May									COSM3409113,COSM3409114	6-May	.		ENST00000302053	Transcript	1		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	ENSG00000171560	g.chr4:155508007C>T	3661			MODERATE		0.49	neutral	getma.org/?cm=msa&ty=f&p=FIBA_HUMAN&rb=48&re=194&var=V192I	getma.org/pdb.php?prot=FIBA_HUMAN&from=48&to=194&var=V192I	getma.org/?cm=var&var=hg19,4,155508007,C,T&fts=all	V192I	--	--	1																																		FGA_uc003ioe.1_Missense_Mutation_p.V192I|FGA_uc003iof.1_Intron	1,1	1		benign(0.07)	p.V192I	NM_000508	NP_000499		tolerated(0.32)	1,1	FIBA_HUMAN	FGA	HGNC	P02671	FIBA_HUMAN			Q86Z09_HUMAN		5	632	-	all_hematologic(180;0.215)	Renal(120;0.0458)	UPI000012A75A	192			By similarity.		SNV	FGA,missense_variant,p.Val192Ile,ENST00000302053,NM_000508.3;FGA,missense_variant,p.Val192Ile,ENST00000403106,NM_021871.2;	uc003iod.1	c.574G>A	653/3678	2	2			c.574G>A						4	SNP	c.(574-576)GTA>ATA	43	43			ovary(2)|breast(1)	3	Broad	fibrinogen, alpha polypeptide isoform alpha-E		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	155508007		0.418	ENSG00000171560	5728	g.chr4:155508007C>T	platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	NSCLC(143;340 1922 20892 22370 48145)			NSCLC(143;340 1922 20892 22370 48145)			192.967768	KEEP	35	36	-1	59	55	35	36	-1	194.783119	59	55	0.387879	1	0	0	0	0	1	0	0	0	--	--		0	T			FGA_uc003ioe.1_Missense_Mutation_p.V192I|FGA_uc003iof.1_Intron	156	GBM-16-0861-TP	p.V192I	C	TTCAGATCTACTTCACGAGCT	NM_000508	NP_000499	155508007	P02671	FIBA_HUMAN	0			5	632	-	T	T	all_hematologic(180;0.215)	Renal(120;0.0458)	Missense_Mutation	192			By similarity.			
FGA	0	broad.mit.edu	GRCh37	4	155508053	155508053	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-26-5134-01	TCGA-26-5134-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302053.3:c.528G>C	p.Lys176Asn	p.K176N	ENST00000302053	NM_000508.3	176	aaG/aaC	0			1			G	K/N	uc003iod.1	protein_coding	YES	CCDS3787.1			528/2601									ovary(2)|breast(1)	3	c.(526-528)AAG>AAC			Gene3D:1.20.5.50,Pfam_domain:PF08702,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF172,Superfamily_domains:SSF58010	fibrinogen, alpha polypeptide isoform alpha-E	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)			ENSP00000306361		6-May									COSM2156991,COSM3409115	6-May	.		ENST00000302053	Transcript	1		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	ENSG00000171560	g.chr4:155508053C>G	3661			MODERATE		2.36	medium	getma.org/?cm=msa&ty=f&p=FIBA_HUMAN&rb=48&re=194&var=K176N	getma.org/pdb.php?prot=FIBA_HUMAN&from=48&to=194&var=K176N	getma.org/?cm=var&var=hg19,4,155508053,C,G&fts=all	K176N	--	--	1																																		FGA_uc003ioe.1_Missense_Mutation_p.K176N|FGA_uc003iof.1_Intron	1,1	1		probably_damaging(0.924)	p.K176N	NM_000508	NP_000499		deleterious(0)	1,1	FIBA_HUMAN	FGA	HGNC	P02671	FIBA_HUMAN			Q86Z09_HUMAN		5	586	-	all_hematologic(180;0.215)	Renal(120;0.0458)	UPI000012A75A	176			By similarity.		SNV	FGA,missense_variant,p.Lys176Asn,ENST00000302053,NM_000508.3;FGA,missense_variant,p.Lys176Asn,ENST00000403106,NM_021871.2;	uc003iod.1	c.528G>C	607/3678	3	3			c.528G>C						4	SNP	c.(526-528)AAG>AAC	9	9			ovary(2)|breast(1)	3	Broad	fibrinogen, alpha polypeptide isoform alpha-E		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	155508053		0.393	ENSG00000171560	5728	g.chr4:155508053C>G	platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	NSCLC(143;340 1922 20892 22370 48145)			NSCLC(143;340 1922 20892 22370 48145)			254.070794	KEEP	38	39	-1	55	54	38	39	-1	255.065744	55	54	0.418605	1	0	0	0	0	1	0	0	0	--	--		0	G			FGA_uc003ioe.1_Missense_Mutation_p.K176N|FGA_uc003iof.1_Intron	183	GBM-26-5134-TP	p.K176N	C	AAGATCGGATCTTAATATCAA	NM_000508	NP_000499	155508053	P02671	FIBA_HUMAN	0			5	586	-	G	G	all_hematologic(180;0.215)	Renal(120;0.0458)	Missense_Mutation	176			By similarity.			
FGA	2243		GRCh37	4	155507683	155507683	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000302053.3:c.898T>A	p.Ser300Thr	p.S300T	ENST00000302053	NM_000508.3	300	Tct/Act	0																																																																																																																																																																																																																																												
FGB	2244	broad.mit.edu	GRCh37	4	155490927	155490927	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01	TCGA-06-0126-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302068.4:c.1220C>T	p.Thr407Met	p.T407M	ENST00000302068	NM_005141.4	407	aCg/aTg	0			1			T	T/M	uc003ioa.3	protein_coding	YES	CCDS3786.1			1220/1476									ovary(2)|upper_aerodigestive_tract(1)	3	c.(1219-1221)ACG>ATG			Superfamily_domains:SSF56496,SMART_domains:SM00186,Gene3D:4.10.530.10,Pfam_domain:PF00147,hmmpanther:PTHR19143:SF23,hmmpanther:PTHR19143,PROSITE_profiles:PS51406	fibrinogen, beta chain preproprotein	Sucralfate(DB00364)			ENSP00000306099		8-Jul									COSM2149446	8-Jul	.		ENST00000302068	Transcript	1		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	ENSG00000171564	g.chr4:155490927C>T	3662			MODERATE		4.39	high	getma.org/?cm=msa&ty=f&p=FIBB_HUMAN&rb=237&re=487&var=T407M	getma.org/pdb.php?prot=FIBB_HUMAN&from=237&to=487&var=T407M	getma.org/?cm=var&var=hg19,4,155490927,C,T&fts=all	T407M	--	--	1																																		FGB_uc003iob.3_Intron|FGB_uc010ipv.2_Missense_Mutation_p.T345M|FGB_uc010ipw.2_Intron|FGB_uc003ioc.3_Missense_Mutation_p.T188M	1	1		probably_damaging(1)	p.T407M	NM_005141	NP_005132		deleterious(0)	1	FIBB_HUMAN	FGB	HGNC	P02675	FIBB_HUMAN			D6REL8_HUMAN,D3DP13_HUMAN,B4E1D3_HUMAN		7	1259	+	all_hematologic(180;0.215)	Renal(120;0.0458)	UPI000012A778	407			Fibrinogen C-terminal.		SNV	FGB,missense_variant,p.Thr407Met,ENST00000302068,NM_005141.4;FGB,missense_variant,p.Thr188Met,ENST00000509493,;FGB,intron_variant,,ENST00000502545,;FGB,downstream_gene_variant,,ENST00000498375,;FGB,downstream_gene_variant,,ENST00000473984,;FGB,downstream_gene_variant,,ENST00000497097,;FGB,downstream_gene_variant,,ENST00000425838,;	uc003ioa.3	c.1220C>T	1283/1975	1	1			c.1220C>T						4	SNP	c.(1219-1221)ACG>ATG	6	6			ovary(2)|upper_aerodigestive_tract(1)	3	Broad	fibrinogen, beta chain preproprotein		Sucralfate(DB00364)	155490927		0.423	ENSG00000171564	5729	g.chr4:155490927C>T	platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	NSCLC(106;1133 1613 21870 46110 52656)			NSCLC(106;1133 1613 21870 46110 52656)			82.008787	KEEP	19	13	-1	26	34	19	13	-1	82.901188	26	34	0.380282	1	0	0	0	0	1	0	0	0	--	--		0	T			FGB_uc003iob.3_Intron|FGB_uc010ipv.2_Missense_Mutation_p.T345M|FGB_uc010ipw.2_Intron|FGB_uc003ioc.3_Missense_Mutation_p.T188M	13	GBM-06-0126-TP	p.T407M	C	TTCTTCAGCACGTATGACAGA	NM_005141	NP_005132	155490927	P02675	FIBB_HUMAN	0			7	1259	+	T	T	all_hematologic(180;0.215)	Renal(120;0.0458)	Missense_Mutation	407			Fibrinogen C-terminal.			
FGB	0	broad.mit.edu	GRCh37	4	155487823	155487823	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T			TCGA-32-1970-01	TCGA-32-1970-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302068.4:c.489A>T	p.Lys163Asn	p.K163N	ENST00000302068	NM_005141.4	163	aaA/aaT	0			1			T	K/N	uc003ioa.3	protein_coding	YES	CCDS3786.1			489/1476									ovary(2)|upper_aerodigestive_tract(1)	3	c.(487-489)AAA>AAT			Superfamily_domains:SSF58010,Pfam_domain:PF08702,hmmpanther:PTHR19143:SF23,hmmpanther:PTHR19143	fibrinogen, beta chain preproprotein	Sucralfate(DB00364)			ENSP00000306099		8-Mar									COSM3409104	8-Mar	.		ENST00000302068	Transcript	1		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	ENSG00000171564	g.chr4:155487823A>T	3662			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=FIBB_HUMAN&rb=90&re=235&var=K163N	getma.org/pdb.php?prot=FIBB_HUMAN&from=90&to=235&var=K163N	getma.org/?cm=var&var=hg19,4,155487823,A,T&fts=all	K163N	--	--	1																																		FGB_uc010ipu.1_RNA|FGB_uc003iob.3_Missense_Mutation_p.K160N|FGB_uc010ipv.2_Missense_Mutation_p.K101N|FGB_uc010ipw.2_Missense_Mutation_p.K160N|FGB_uc003ioc.3_Intron	1	1		benign(0.05)	p.K163N	NM_005141	NP_005132		tolerated(0.45)	1	FIBB_HUMAN	FGB	HGNC	P02675	FIBB_HUMAN			D6REL8_HUMAN,D3DP13_HUMAN,B4E1D3_HUMAN		3	528	+	all_hematologic(180;0.215)	Renal(120;0.0458)	UPI000012A778	163			Potential.	Cleavage; by plasmin; to break down fibrin clots.	SNV	FGB,missense_variant,p.Lys163Asn,ENST00000302068,NM_005141.4;FGB,intron_variant,,ENST00000509493,;FGB,splice_region_variant,,ENST00000502545,;FGB,splice_region_variant,,ENST00000473984,;FGB,splice_region_variant,,ENST00000425838,;FGB,non_coding_transcript_exon_variant,,ENST00000497097,;FGB,downstream_gene_variant,,ENST00000498375,;	uc003ioa.3	c.489A>T	552/1975	1	1			c.489A>T						4	SNP	c.(487-489)AAA>AAT	4	4			ovary(2)|upper_aerodigestive_tract(1)	3	Broad	fibrinogen, beta chain preproprotein		Sucralfate(DB00364)	155487823		0.403	ENSG00000171564	5729	g.chr4:155487823A>T	platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	NSCLC(106;1133 1613 21870 46110 52656)			NSCLC(106;1133 1613 21870 46110 52656)			-16.939473	KEEP	7	3	-1	73	91	7	3	-1	16.599624	73	91	0.050955	1	0	0	0	0	1	0	0	0	--	--		0	T			FGB_uc010ipu.1_RNA|FGB_uc003iob.3_Missense_Mutation_p.K160N|FGB_uc010ipv.2_Missense_Mutation_p.K101N|FGB_uc010ipw.2_Missense_Mutation_p.K160N|FGB_uc003ioc.3_Intron	228	GBM-32-1970-TP	p.K163N	A	AGCAAGTAAAAGGTAGATATC	NM_005141	NP_005132	155487823	P02675	FIBB_HUMAN	0			3	528	+	T	T	all_hematologic(180;0.215)	Renal(120;0.0458)	Missense_Mutation	163			Potential.	Cleavage; by plasmin; to break down fibrin clots.		
FGD1	2245	broad.mit.edu	GRCh37	X	54497806	54497806	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0210-01	TCGA-06-0210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375135.3:c.422C>A	p.Thr141Asn	p.T141N	ENST00000375135	NM_004463.2	141	aCt/aAt	0			1			T	T/N	uc004dtg.2	protein_coding	YES	CCDS14359.1			422/2886									ovary(3)|skin(2)|central_nervous_system(1)	6	c.(421-423)ACT>AAT			hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF79	faciogenital dysplasia protein				ENSP00000364277		18-Feb									COSM2150719	18-Feb	.		ENST00000375135	Transcript	1		actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	ENSG00000102302	g.chrX:54497806G>T	3663			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=FGD1_HUMAN&rb=91&re=269&var=T141N	NA	getma.org/?cm=var&var=hg19,X,54497806,G,T&fts=all	T141N	--	--	1																																		FGD1_uc011moi.1_5'Flank	1	1		benign(0.054)	p.T141N	NM_004463	NP_004454		tolerated_low_confidence(0.06)	1	FGD1_HUMAN	FGD1	HGNC	P98174	FGD1_HUMAN					2	1156	-			UPI000012A705	141			Pro-rich.		SNV	FGD1,missense_variant,p.Thr141Asn,ENST00000375135,NM_004463.2;	uc004dtg.2	c.422C>A	1156/4275	1	1			c.422C>A						23	SNP	c.(421-423)ACT>AAT	1	1			ovary(3)|skin(2)|central_nervous_system(1)	6	Broad	faciogenital dysplasia protein			54497806		0.607	ENSG00000102302	5730	g.chrX:54497806G>T	actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding							98.626818	KEEP	19	28	0.404255319	106	81	19	28	0.404255319	116.004135	106	81	0.200957	1	0	0	0	0	1	0	0	0	--	--		0	T			FGD1_uc011moi.1_5'Flank	47	GBM-06-0210-TP	p.T141N	G	AGGGGTTTCAGTCGGGGGACC	NM_004463	NP_004454	54497806	P98174	FGD1_HUMAN	0			2	1156	-	T	T			Missense_Mutation	141			Pro-rich.			
FGD1	2245	broad.mit.edu	GRCh37	X	54496521	54496521	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0216-01	TCGA-06-0216-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375135.3:c.1029C>T	p.Asp343=	p.D343=	ENST00000375135	NM_004463.2	343	gaC/gaT	0	A:0.0003		1			A	D	uc004dtg.2	protein_coding	YES	CCDS14359.1			1029/2886									ovary(3)|skin(2)|central_nervous_system(1)	6	c.(1027-1029)GAC>GAT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF79,Low_complexity_(Seg):seg	faciogenital dysplasia protein			A:0	ENSP00000364277		18-Apr	8.24E-06	0.000127							rs374074159,COSM1123440	18-Apr	.		ENST00000375135	Transcript	1		actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	ENSG00000102302	g.chrX:54496521G>A	3663			LOW								--	--	1																																		FGD1_uc011moi.1_Silent_p.D101D	0,1	1			p.D343D	NM_004463	NP_004454			0,1	FGD1_HUMAN	FGD1	HGNC	P98174	FGD1_HUMAN					4	1763	-			UPI000012A705	343					SNV	FGD1,synonymous_variant,p.=,ENST00000375135,NM_004463.2;	uc004dtg.2	c.1029C>T	1763/4275	1	1			c.1029C>T						23	SNP	c.(1027-1029)GAC>GAT	55	55			ovary(3)|skin(2)|central_nervous_system(1)	6	Broad	faciogenital dysplasia protein			54496521		0.507	ENSG00000102302	5730	g.chrX:54496521G>A	actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding							38.541702	KEEP	13	5	-1	19	10	13	5	-1	39.119205	19	10	0.368421	1	0	0	0	0	0	0	1	0	--	--		0	A			FGD1_uc011moi.1_Silent_p.D101D	51	GBM-06-0216-TP	p.D343D	G	cctcctcgtcgtcctcctcct	NM_004463	NP_004454	54496521	P98174	FGD1_HUMAN	0			4	1763	-	A	A			Silent	343						
FGD3	0	broad.mit.edu	GRCh37	9	95768391	95768391	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-16-1045-01	TCGA-16-1045-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337352.6:c.766C>T	p.Arg256Ter	p.R256*	ENST00000337352	NM_033086.2	256	Cga/Tga	0			1			T	R/*	uc004asw.2	protein_coding		CCDS43849.1			766/2178									ovary(1)|breast(1)	2	c.(766-768)CGA>TGA			Gene3D:1.20.900.10,Pfam_domain:PF00621,PROSITE_profiles:PS50010,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF14,SMART_domains:SM00325,Superfamily_domains:SSF48065	FYVE, RhoGEF and PH domain containing 3				ENSP00000336914		18-Jun	8.25E-06					1.50E-05			rs768103250,COSM2732021,COSM2732020	18-Jun	.		ENST00000337352	Transcript			actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	ENSG00000127084	g.chr9:95768391C>T	16027			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,9,95768391,C,T&fts=all	R256*	--	--	1																																		FGD3_uc004asx.2_Nonsense_Mutation_p.R256*|FGD3_uc004asz.2_Nonsense_Mutation_p.R256*|FGD3_uc004ata.2_Nonsense_Mutation_p.R59*	0,1,1				p.R256*	NM_001083536	NP_001077005			0,1,1	FGD3_HUMAN	FGD3	HGNC	Q5JSP0	FGD3_HUMAN			B4DXH4_HUMAN		6	1394	+			UPI0000199249	256			DH.		SNV	FGD3,stop_gained,p.Arg256Ter,ENST00000375482,NM_001083536.1;FGD3,stop_gained,p.Arg256Ter,ENST00000337352,NM_033086.2;FGD3,stop_gained,p.Arg256Ter,ENST00000416701,NM_001286993.1;FGD3,stop_gained,p.Arg256Ter,ENST00000467786,;	uc004asw.2	c.766C>T	1248/3303	5	2			c.766C>T						9	SNP	c.(766-768)CGA>TGA	17	17			ovary(1)|breast(1)	2	Broad	FYVE, RhoGEF and PH domain containing 3			95768391		0.582	ENSG00000127084	5732	g.chr9:95768391C>T	actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding							-20.190854	KEEP	3	2	-1	78	75	3	2	-1	10.630255	78	75	0.037313	1	0	0	0	0	0	1	0	0	--	--		0	T			FGD3_uc004asx.2_Nonsense_Mutation_p.R256*|FGD3_uc004asz.2_Nonsense_Mutation_p.R256*|FGD3_uc004ata.2_Nonsense_Mutation_p.R59*	157	GBM-16-1045-TP	p.R256*	C	GAACTTTGACCGAGCCGTAGG	NM_001083536	NP_001077005	95768391	Q5JSP0	FGD3_HUMAN	0			6	1394	+	T	T			Nonsense_Mutation	256			DH.			
FGD3	0	broad.mit.edu	GRCh37	9	95738835	95738835	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5955-01	TCGA-19-5955-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337352.6:c.297C>T	p.Gly99=	p.G99=	ENST00000337352	NM_033086.2	99	ggC/ggT	0			1			T	G	uc004asw.2	protein_coding		CCDS43849.1			297/2178									ovary(1)|breast(1)	2	c.(295-297)GGC>GGT			hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF14	FYVE, RhoGEF and PH domain containing 3				ENSP00000336914		18-Mar									COSM3413822,COSM3413821	18-Mar	.		ENST00000337352	Transcript			actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	ENSG00000127084	g.chr9:95738835C>T	16027			LOW								--	--	1																																		FGD3_uc004asx.2_Silent_p.G99G|FGD3_uc004asz.2_Silent_p.G99G	1,1				p.G99G	NM_001083536	NP_001077005			1,1	FGD3_HUMAN	FGD3	HGNC	Q5JSP0	FGD3_HUMAN			B4DXH4_HUMAN		3	925	+			UPI0000199249	99					SNV	FGD3,synonymous_variant,p.=,ENST00000375482,NM_001083536.1;FGD3,synonymous_variant,p.=,ENST00000337352,NM_033086.2;FGD3,synonymous_variant,p.=,ENST00000416701,NM_001286993.1;FGD3,non_coding_transcript_exon_variant,,ENST00000468206,;FGD3,non_coding_transcript_exon_variant,,ENST00000494669,;FGD3,synonymous_variant,p.=,ENST00000467786,;	uc004asw.2	c.297C>T	779/3303	2	2			c.297C>T						9	SNP	c.(295-297)GGC>GGT	29	29			ovary(1)|breast(1)	2	Broad	FYVE, RhoGEF and PH domain containing 3			95738835		0.657	ENSG00000127084	5732	g.chr9:95738835C>T	actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding							12.825797	KEEP	4	3	-1	22	19	4	3	-1	16.792385	22	19	0.175	1	0	0	0	0	0	0	1	0	--	--		0	T			FGD3_uc004asx.2_Silent_p.G99G|FGD3_uc004asz.2_Silent_p.G99G	175	GBM-19-5955-TP	p.G99G	C	TGGAGGCTGGCCCAAGCCCCA	NM_001083536	NP_001077005	95738835	Q5JSP0	FGD3_HUMAN	0			3	925	+	T	T			Silent	99						
FGD3	0	broad.mit.edu	GRCh37	9	95792189	95792189	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01	TCGA-28-5208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337352.6:c.1591C>T	p.Arg531Cys	p.R531C	ENST00000337352	NM_033086.2	531	Cgt/Tgt	0			1			T	R/C	uc004asw.2	protein_coding		CCDS43849.1			1591/2178									ovary(1)|breast(1)	2	c.(1591-1593)CGT>TGT			Gene3D:3.30.40.10,Pfam_domain:PF01363,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF14,SMART_domains:SM00064,Superfamily_domains:SSF57903	FYVE, RhoGEF and PH domain containing 3				ENSP00000336914		15/18	8.26E-06					1.50E-05			rs780003397,COSM1636775,COSM1636774	15/18	.		ENST00000337352	Transcript			actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	ENSG00000127084	g.chr9:95792189C>T	16027			MODERATE		2.485	medium	getma.org/?cm=msa&ty=f&p=FGD3_HUMAN&rb=527&re=587&var=R531C	getma.org/pdb.php?prot=FGD3_HUMAN&from=527&to=587&var=R531C	getma.org/?cm=var&var=hg19,9,95792189,C,T&fts=all	R531C	--	--	1																																		FGD3_uc004asx.2_Missense_Mutation_p.R531C|FGD3_uc004asz.2_Missense_Mutation_p.R531C|FGD3_uc011luc.1_Missense_Mutation_p.R134C	0,1,1			probably_damaging(1)	p.R531C	NM_001083536	NP_001077005		deleterious(0)	0,1,1	FGD3_HUMAN	FGD3	HGNC	Q5JSP0	FGD3_HUMAN			B4DXH4_HUMAN		15	2219	+			UPI0000199249	531					SNV	FGD3,missense_variant,p.Arg531Cys,ENST00000375482,NM_001083536.1;FGD3,missense_variant,p.Arg531Cys,ENST00000337352,NM_033086.2;FGD3,missense_variant,p.Arg531Cys,ENST00000416701,NM_001286993.1;FGD3,missense_variant,p.Arg134Cys,ENST00000538555,;FGD3,non_coding_transcript_exon_variant,,ENST00000488407,;FGD3,missense_variant,p.Arg531Cys,ENST00000467786,;	uc004asw.2	c.1591C>T	2073/3303	2	2			c.1591C>T						9	SNP	c.(1591-1593)CGT>TGT	45	45			ovary(1)|breast(1)	2	Broad	FYVE, RhoGEF and PH domain containing 3			95792189		0.537	ENSG00000127084	5732	g.chr9:95792189C>T	actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding							167.887939	KEEP	27	33	-1	30	41	27	33	-1	167.954509	30	41	0.474576	1	0	0	0	0	1	0	0	0	--	--		0	T			FGD3_uc004asx.2_Missense_Mutation_p.R531C|FGD3_uc004asz.2_Missense_Mutation_p.R531C|FGD3_uc011luc.1_Missense_Mutation_p.R134C	217	GBM-28-5208-TP	p.R531C	C	TAAGACCAGACGTGACAAGGA	NM_001083536	NP_001077005	95792189	Q5JSP0	FGD3_HUMAN	0			15	2219	+	T	T			Missense_Mutation	531						
FGD4	0	broad.mit.edu	GRCh37	12	32763711	32763711	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G			TCGA-12-5301-01	TCGA-12-5301-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000427716.2:c.1134A>G	p.Lys378=	p.K378=	ENST00000427716	NM_139241.2	378	aaA/aaG	0			1			G	K	uc001rkz.2	protein_coding	YES	CCDS8727.1			1134/2301									ovary(2)|central_nervous_system(1)	3	c.(1132-1134)AAA>AAG			PROSITE_profiles:PS50010,hmmpanther:PTHR12673:SF98,hmmpanther:PTHR12673,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065	FYVE, RhoGEF and PH domain containing 4				ENSP00000394487		17-Sep									COSM3398673,COSM3398674,COSM3398675	17-Sep	.		ENST00000427716	Transcript	1		actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	ENSG00000139132	g.chr12:32763711A>G	19125			LOW								--	--	1																																		FGD4_uc001rlc.2_Silent_p.K463K|FGD4_uc001rky.2_Silent_p.K130K|FGD4_uc001rla.2_Silent_p.K34K|FGD4_uc010ske.1_Silent_p.K490K|FGD4_uc001rlb.1_RNA	1,1,1	1			p.K378K	NM_139241	NP_640334			1,1,1	FGD4_HUMAN	FGD4	HGNC	Q96M96	FGD4_HUMAN			J3KSS3_HUMAN,F8W1R0_HUMAN		9	1611	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		UPI000004CCA6	378			DH.		SNV	FGD4,splice_region_variant,p.=,ENST00000427716,NM_139241.2;FGD4,splice_region_variant,p.=,ENST00000546442,;FGD4,splice_region_variant,p.=,ENST00000534526,;FGD4,splice_region_variant,p.=,ENST00000525053,;FGD4,splice_region_variant,p.=,ENST00000531134,;FGD4,splice_region_variant,p.=,ENST00000266482,;FGD4,splice_region_variant,p.=,ENST00000381025,;FGD4,splice_region_variant,,ENST00000493087,;FGD4,splice_region_variant,,ENST00000395740,;FGD4,splice_region_variant,,ENST00000551984,;FGD4,splice_region_variant,,ENST00000494977,;	uc001rkz.2	c.1134A>G	1558/8242	3	3			c.1134A>G						12	SNP	c.(1132-1134)AAA>AAG	52	52			ovary(2)|central_nervous_system(1)	3	Broad	FYVE, RhoGEF and PH domain containing 4			32763711		0.343	ENSG00000139132	5733	g.chr12:32763711A>G	actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding							139.70382	KEEP	20	23	-1	42	29	20	23	-1	141.128922	42	29	0.375	1	0	0	0	0	0	0	1	0	--	--		0	G			FGD4_uc001rlc.2_Silent_p.K463K|FGD4_uc001rky.2_Silent_p.K130K|FGD4_uc001rla.2_Silent_p.K34K|FGD4_uc010ske.1_Silent_p.K490K|FGD4_uc001rlb.1_RNA	131	GBM-12-5301-TP	p.K378K	A	CCCATTTAGAATCACTTGAAA	NM_139241	NP_640334	32763711	Q96M96	FGD4_HUMAN	0			9	1611	+	G	G	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		Silent	378			DH.			
FGD4	0	broad.mit.edu	GRCh37	12	32791721	32791722	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C			TCGA-41-2572-01	TCGA-41-2572-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000427716.2:c.2041dupC	p.Gln681ProfsTer18	p.Q681Pfs*18	ENST00000427716	NM_139241.2	679	gcc/gCcc	0			1			C	A/AX	uc001rkz.2	protein_coding	YES	CCDS8727.1			2035-2036/2301									ovary(2)|central_nervous_system(1)	3	c.(2035-2037)GCCfs			PROSITE_profiles:PS50003,hmmpanther:PTHR12673:SF98,hmmpanther:PTHR12673,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	FYVE, RhoGEF and PH domain containing 4				ENSP00000394487		16/17										16/17	.		ENST00000427716	Transcript	1		actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	ENSG00000139132	g.chr12:32791721_32791722insC	19125	6		HIGH								--	--	1																																		FGD4_uc001rlc.2_Frame_Shift_Ins_p.A764fs|FGD4_uc001rky.2_Frame_Shift_Ins_p.A431fs|FGD4_uc001rla.2_Frame_Shift_Ins_p.A335fs|FGD4_uc010ske.1_Frame_Shift_Ins_p.A791fs|FGD4_uc001rlb.1_RNA		1			p.A679fs	NM_139241	NP_640334				FGD4_HUMAN	FGD4	HGNC	Q96M96	FGD4_HUMAN			J3KSS3_HUMAN,F8W1R0_HUMAN		16	2512_2513	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		UPI000004CCA6	679			PH 2.		insertion	FGD4,frameshift_variant,p.Gln681ProfsTer18,ENST00000427716,NM_139241.2;FGD4,frameshift_variant,p.Gln588ProfsTer18,ENST00000546442,;FGD4,frameshift_variant,p.Gln818ProfsTer18,ENST00000534526,;FGD4,frameshift_variant,p.Gln793ProfsTer18,ENST00000525053,;FGD4,frameshift_variant,p.Gln766ProfsTer18,ENST00000531134,;FGD4,frameshift_variant,p.Gln433ProfsTer4,ENST00000266482,;FGD4,3_prime_UTR_variant,,ENST00000493087,;FGD4,3_prime_UTR_variant,,ENST00000395740,;FGD4,3_prime_UTR_variant,,ENST00000551984,;FGD4,3_prime_UTR_variant,,ENST00000494977,;	uc001rkz.2	c.2035_2036insC	2459-2460/8242	5	5			c.2035_2036insC						12	INS	c.(2035-2037)GCCfs	12	12			ovary(2)|central_nervous_system(1)	3	Broad	FYVE, RhoGEF and PH domain containing 4			32791722		0.505	ENSG00000139132	5733	g.chr12:32791721_32791722insC	actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding																				0.32	1	0	0	1	1	0	0	0	0	--	--		0	C			FGD4_uc001rlc.2_Frame_Shift_Ins_p.A764fs|FGD4_uc001rky.2_Frame_Shift_Ins_p.A431fs|FGD4_uc001rla.2_Frame_Shift_Ins_p.A335fs|FGD4_uc010ske.1_Frame_Shift_Ins_p.A791fs|FGD4_uc001rlb.1_RNA	251	GBM-41-2572-TP	p.A679fs	-	CATGTATGGTGCCCCCCAGGTA	NM_139241	NP_640334	32791721	Q96M96	FGD4_HUMAN	0			16	2512_2513	+	C	C	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		Frame_Shift_Ins	679			PH 2.			
FGD5	152273	broad.mit.edu	GRCh37	3	14862089	14862089	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0128-01	TCGA-06-0128-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285046.5:c.1511A>G	p.Glu504Gly	p.E504G	ENST00000285046	NM_152536.3	504	gAg/gGg	0			1			G	E/G	uc003bzc.2	protein_coding	YES	CCDS46767.1			1511/4389									ovary(3)|kidney(1)|pancreas(1)	5	c.(1510-1512)GAG>GGG			Low_complexity_(Seg):seg,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF13	FYVE, RhoGEF and PH domain containing 5				ENSP00000285046		20-Jan									COSM3408332,COSM3408331	20-Jan	.		ENST00000285046	Transcript			actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	ENSG00000154783	g.chr3:14862089A>G	19117			MODERATE		2.24	medium	getma.org/?cm=msa&ty=f&p=FGD5_HUMAN&rb=455&re=895&var=E504G	NA	getma.org/?cm=var&var=hg19,3,14862089,A,G&fts=all	E504G	--	--	1																																		FGD5_uc011avk.1_Missense_Mutation_p.E504G	1,1	1		possibly_damaging(0.787)	p.E504G	NM_152536	NP_689749		deleterious(0)	1,1	FGD5_HUMAN	FGD5	HGNC	Q6ZNL6	FGD5_HUMAN			A3KMQ0_HUMAN		1	1621	+			UPI00002372AE	504					SNV	FGD5,missense_variant,p.Glu504Gly,ENST00000285046,NM_152536.3;FGD5,missense_variant,p.Glu263Gly,ENST00000543601,;FGD5,upstream_gene_variant,,ENST00000457774,;	uc003bzc.2	c.1511A>G	1621/5720	3	3			c.1511A>G						3	SNP	c.(1510-1512)GAG>GGG	11	11			ovary(3)|kidney(1)|pancreas(1)	5	Broad	FYVE, RhoGEF and PH domain containing 5			14862089		0.637	ENSG00000154783	5734	g.chr3:14862089A>G	actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding							1.667248	KEEP	4	2	-1	22	29	4	2	-1	10.657087	22	29	0.08	1	0	0	0	0	1	0	0	0	--	--		0	G			FGD5_uc011avk.1_Missense_Mutation_p.E504G	14	GBM-06-0128-TP	p.E504G	A	ACCGGACCTGAGGCGGGCTCG	NM_152536	NP_689749	14862089	Q6ZNL6	FGD5_HUMAN	0			1	1621	+	G	G			Missense_Mutation	504						
FGD5	152273	broad.mit.edu	GRCh37	3	14960268	14960268	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01	TCGA-06-0213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285046.5:c.3497G>A	p.Arg1166His	p.R1166H	ENST00000285046	NM_152536.3	1166	cGc/cAc	0		A:0.0008	1	A:0		A	R/H	uc003bzc.2	protein_coding	YES	CCDS46767.1			3497/4389									ovary(3)|kidney(1)|pancreas(1)	5	c.(3496-3498)CGC>CAC			PROSITE_profiles:PS50003,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF13,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	FYVE, RhoGEF and PH domain containing 5		A:0		ENSP00000285046	A:0	13/20	8.27E-06	0.000102							rs536923009,COSM2150856,COSM2150855	13/20	.		ENST00000285046	Transcript		A:0.0002	actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	ENSG00000154783	g.chr3:14960268G>A	19117			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=FGD5_HUMAN&rb=1114&re=1207&var=R1166H	getma.org/pdb.php?prot=FGD5_HUMAN&from=1114&to=1207&var=R1166H	getma.org/?cm=var&var=hg19,3,14960268,G,A&fts=all	R1166H	--	--	1																																		FGD5_uc011avk.1_Missense_Mutation_p.R1166H|FGD5_uc003bzd.2_Missense_Mutation_p.R244H	0,1,1	1		probably_damaging(0.987)	p.R1166H	NM_152536	NP_689749	A:0	deleterious(0)	0,1,1	FGD5_HUMAN	FGD5	HGNC	Q6ZNL6	FGD5_HUMAN			A3KMQ0_HUMAN		13	3607	+			UPI00002372AE	1166			PH 1.		SNV	FGD5,missense_variant,p.Arg1166His,ENST00000285046,NM_152536.3;FGD5,missense_variant,p.Arg925His,ENST00000543601,;FGD5-AS1,downstream_gene_variant,,ENST00000430166,;FGD5,non_coding_transcript_exon_variant,,ENST00000476851,;FGD5,non_coding_transcript_exon_variant,,ENST00000468662,;	uc003bzc.2	c.3497G>A	3607/5720	2	2			c.3497G>A						3	SNP	c.(3496-3498)CGC>CAC	33	33			ovary(3)|kidney(1)|pancreas(1)	5	Broad	FYVE, RhoGEF and PH domain containing 5			14960268		0.602	ENSG00000154783	5734	g.chr3:14960268G>A	actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding							78.384252	KEEP	19	11	-1	22	29	19	11	-1	79.077694	22	29	0.394366	1	0	0	0	0	1	0	0	0	--	--		0	A			FGD5_uc011avk.1_Missense_Mutation_p.R1166H|FGD5_uc003bzd.2_Missense_Mutation_p.R244H	49	GBM-06-0213-TP	p.R1166H	G	CAGGTCAGCCGCCCTGTGATG	NM_152536	NP_689749	14960268	Q6ZNL6	FGD5_HUMAN	0			13	3607	+	A	A			Missense_Mutation	1166			PH 1.			
FGD5	152273	broad.mit.edu	GRCh37	3	14942566	14942566	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0219-01	TCGA-06-0219-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285046.5:c.3264+1del		p.G1088fs	ENST00000285046	NM_152536.3	1088	Ggg/gg	0			1			-	G/X	uc003bzc.2	protein_coding	YES	CCDS46767.1			3262/4389									ovary(3)|kidney(1)|pancreas(1)	5	c.(3262-3264)GGGfs			hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF13,Superfamily_domains:SSF48065	FYVE, RhoGEF and PH domain containing 5				ENSP00000285046		20-Sep									COSM2150974,COSM2150973	20-Sep	.		ENST00000285046	Transcript			actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	ENSG00000154783	g.chr3:14942566delG	19117	3		HIGH								--	--	1																																		FGD5_uc011avk.1_Frame_Shift_Del_p.G1088fs|FGD5_uc003bzd.2_Frame_Shift_Del_p.G166fs	1,1	1			p.G1088fs	NM_152536	NP_689749			1,1	FGD5_HUMAN	FGD5	HGNC	Q6ZNL6	FGD5_HUMAN			A3KMQ0_HUMAN		9	3372	+			UPI00002372AE	1088					deletion	FGD5,frameshift_variant,,ENST00000285046,NM_152536.3;FGD5,frameshift_variant,,ENST00000543601,;FGD5,downstream_gene_variant,,ENST00000457774,;FGD5,splice_region_variant,,ENST00000476851,;FGD5,splice_region_variant,,ENST00000468662,;	uc003bzc.2	c.3262delG	3372/5720	5	5			c.3262delG						3	DEL	c.(3262-3264)GGGfs	28	28			ovary(3)|kidney(1)|pancreas(1)	5	Broad	FYVE, RhoGEF and PH domain containing 5			14942566		0.642	ENSG00000154783	5734	g.chr3:14942566delG	actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding																				0.27	1	1	0	1	0	0	0	0	0	--	--		0	-			FGD5_uc011avk.1_Frame_Shift_Del_p.G1088fs|FGD5_uc003bzd.2_Frame_Shift_Del_p.G166fs	52	GBM-06-0219-TP	p.G1088fs	G	CATGGAGCAAGGGGTGAGTGC	NM_152536	NP_689749	14942566	Q6ZNL6	FGD5_HUMAN	0			9	3372	+	-	-			Frame_Shift_Del	1088						
FGD5	152273	broad.mit.edu	GRCh37	3	14862435	14862435	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0648-01	TCGA-06-0648-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285046.5:c.1857C>T	p.Phe619=	p.F619=	ENST00000285046	NM_152536.3	619	ttC/ttT	0			1			T	F	uc003bzc.2	protein_coding	YES	CCDS46767.1			1857/4389									ovary(3)|kidney(1)|pancreas(1)	5	c.(1855-1857)TTC>TTT			hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF13	FYVE, RhoGEF and PH domain containing 5				ENSP00000285046		20-Jan	4.96E-05					9.06E-05			rs771459242,COSM2151355,COSM2151354	20-Jan	.		ENST00000285046	Transcript			actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	ENSG00000154783	g.chr3:14862435C>T	19117			LOW								--	--	1																																		FGD5_uc011avk.1_Silent_p.F619F	0,1,1	1			p.F619F	NM_152536	NP_689749			0,1,1	FGD5_HUMAN	FGD5	HGNC	Q6ZNL6	FGD5_HUMAN			A3KMQ0_HUMAN		1	1967	+			UPI00002372AE	619					SNV	FGD5,synonymous_variant,p.=,ENST00000285046,NM_152536.3;FGD5,synonymous_variant,p.=,ENST00000543601,;FGD5,upstream_gene_variant,,ENST00000457774,;	uc003bzc.2	c.1857C>T	1967/5720	1	1			c.1857C>T						3	SNP	c.(1855-1857)TTC>TTT	15	15			ovary(3)|kidney(1)|pancreas(1)	5	Broad	FYVE, RhoGEF and PH domain containing 5			14862435		0.557	ENSG00000154783	5734	g.chr3:14862435C>T	actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding							188.132579	KEEP	30	37	-1	33	35	30	37	-1	188.150007	33	35	0.513043	1	0	0	0	0	0	0	1	0	--	--		0	T			FGD5_uc011avk.1_Silent_p.F619F	61	GBM-06-0648-TP	p.F619F	C	CACCTCCTTTCGACCTGGCCT	NM_152536	NP_689749	14862435	Q6ZNL6	FGD5_HUMAN	0			1	1967	+	T	T			Silent	619						
FGD5	152273	broad.mit.edu	GRCh37	3	14862751	14862751	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0749-01	TCGA-06-0749-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285046.5:c.2173T>A	p.Tyr725Asn	p.Y725N	ENST00000285046	NM_152536.3	725	Tat/Aat	0			1			A	Y/N	uc003bzc.2	protein_coding	YES	CCDS46767.1			2173/4389									ovary(3)|kidney(1)|pancreas(1)	5	c.(2173-2175)TAT>AAT			hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF13	FYVE, RhoGEF and PH domain containing 5				ENSP00000285046		20-Jan									COSM2151930,COSM2151929	20-Jan	.		ENST00000285046	Transcript			actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	ENSG00000154783	g.chr3:14862751T>A	19117			MODERATE		2.075	medium	getma.org/?cm=msa&ty=f&p=FGD5_HUMAN&rb=455&re=895&var=Y725N	NA	getma.org/?cm=var&var=hg19,3,14862751,T,A&fts=all	Y725N	--	--	1																																		FGD5_uc011avk.1_Missense_Mutation_p.Y725N	1,1	1		possibly_damaging(0.572)	p.Y725N	NM_152536	NP_689749		deleterious(0.03)	1,1	FGD5_HUMAN	FGD5	HGNC	Q6ZNL6	FGD5_HUMAN			A3KMQ0_HUMAN		1	2283	+			UPI00002372AE	725					SNV	FGD5,missense_variant,p.Tyr725Asn,ENST00000285046,NM_152536.3;FGD5,missense_variant,p.Tyr484Asn,ENST00000543601,;FGD5,upstream_gene_variant,,ENST00000457774,;	uc003bzc.2	c.2173T>A	2283/5720	1	1			c.2173T>A						3	SNP	c.(2173-2175)TAT>AAT	56	56			ovary(3)|kidney(1)|pancreas(1)	5	Broad	FYVE, RhoGEF and PH domain containing 5			14862751		0.577	ENSG00000154783	5734	g.chr3:14862751T>A	actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding							119.806928	KEEP	26	21	-1	54	43	26	21	-1	123.580751	54	43	0.326241	1	0	0	0	0	1	0	0	0	--	--		0	A			FGD5_uc011avk.1_Missense_Mutation_p.Y725N	69	GBM-06-0749-TP	p.Y725N	T	CCTCATCTTTTATAGAGATGG	NM_152536	NP_689749	14862751	Q6ZNL6	FGD5_HUMAN	0			1	2283	+	A	A			Missense_Mutation	725						
FGD5	0	broad.mit.edu	GRCh37	3	14861427	14861427	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285046.5:c.849G>A	p.Thr283=	p.T283=	ENST00000285046	NM_152536.3	283	acG/acA	0			1			A	T	uc003bzc.2	protein_coding	YES	CCDS46767.1			849/4389									ovary(3)|kidney(1)|pancreas(1)	5	c.(847-849)ACG>ACA				FYVE, RhoGEF and PH domain containing 5				ENSP00000285046		20-Jan	2.48E-05					3.03E-05		6.11E-05	rs774201861,COSM3408324,COSM3408323	20-Jan	.		ENST00000285046	Transcript			actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	ENSG00000154783	g.chr3:14861427G>A	19117			LOW								--	--	1																																		FGD5_uc011avk.1_Silent_p.T283T	0,1,1	1			p.T283T	NM_152536	NP_689749			0,1,1	FGD5_HUMAN	FGD5	HGNC	Q6ZNL6	FGD5_HUMAN			A3KMQ0_HUMAN		1	959	+			UPI00002372AE	283			Glu-rich.		SNV	FGD5,synonymous_variant,p.=,ENST00000285046,NM_152536.3;FGD5,synonymous_variant,p.=,ENST00000543601,;FGD5,upstream_gene_variant,,ENST00000457774,;	uc003bzc.2	c.849G>A	959/5720	2	2			c.849G>A						3	SNP	c.(847-849)ACG>ACA	35	35			ovary(3)|kidney(1)|pancreas(1)	5	Broad	FYVE, RhoGEF and PH domain containing 5			14861427		0.607	ENSG00000154783	5734	g.chr3:14861427G>A	actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding							116.260952	KEEP	18	31	-1	25	26	18	31	-1	116.344605	25	26	0.466667	1	0	0	0	0	0	0	1	0	--	--		0	A			FGD5_uc011avk.1_Silent_p.T283T	131	GBM-12-5301-TP	p.T283T	G	AAGAGGCCACGGGTGTCACAG	NM_152536	NP_689749	14861427	Q6ZNL6	FGD5_HUMAN	0			1	959	+	A	A			Silent	283			Glu-rich.			
FGD5	0	broad.mit.edu	GRCh37	3	14861539	14861539	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-5139-01	TCGA-26-5139-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285046.5:c.961G>A	p.Ala321Thr	p.A321T	ENST00000285046	NM_152536.3	321	Gcc/Acc	0			1			A	A/T	uc003bzc.2	protein_coding	YES	CCDS46767.1			961/4389									ovary(3)|kidney(1)|pancreas(1)	5	c.(961-963)GCC>ACC				FYVE, RhoGEF and PH domain containing 5				ENSP00000285046		20-Jan									COSM1419768,COSM1419767	20-Jan	.		ENST00000285046	Transcript			actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	ENSG00000154783	g.chr3:14861539G>A	19117			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=FGD5_HUMAN&rb=305&re=453&var=A321T	NA	getma.org/?cm=var&var=hg19,3,14861539,G,A&fts=all	A321T	--	--	1																																		FGD5_uc011avk.1_Missense_Mutation_p.A321T	1,1	1		benign(0.002)	p.A321T	NM_152536	NP_689749		tolerated(0.14)	1,1	FGD5_HUMAN	FGD5	HGNC	Q6ZNL6	FGD5_HUMAN			A3KMQ0_HUMAN		1	1071	+			UPI00002372AE	321			Glu-rich.		SNV	FGD5,missense_variant,p.Ala321Thr,ENST00000285046,NM_152536.3;FGD5,missense_variant,p.Ala80Thr,ENST00000543601,;FGD5,upstream_gene_variant,,ENST00000457774,;	uc003bzc.2	c.961G>A	1071/5720	2	2			c.961G>A						3	SNP	c.(961-963)GCC>ACC	20	20			ovary(3)|kidney(1)|pancreas(1)	5	Broad	FYVE, RhoGEF and PH domain containing 5			14861539		0.552	ENSG00000154783	5734	g.chr3:14861539G>A	actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding							96.376482	KEEP	22	22	-1	33	39	22	22	-1	97.362791	33	39	0.398148	1	0	0	0	0	1	0	0	0	--	--		0	A			FGD5_uc011avk.1_Missense_Mutation_p.A321T	186	GBM-26-5139-TP	p.A321T	G	GGATGAGTCCGCCGAGGAGAG	NM_152536	NP_689749	14861539	Q6ZNL6	FGD5_HUMAN	0			1	1071	+	A	A			Missense_Mutation	321			Glu-rich.			
FGD5	0	broad.mit.edu	GRCh37	3	14862951	14862951	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-27-2527-01	TCGA-27-2527-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285046.5:c.2373C>A	p.Pro791=	p.P791=	ENST00000285046	NM_152536.3	791	ccC/ccA	0			1			A	P	uc003bzc.2	protein_coding	YES	CCDS46767.1			2373/4389								p.A791A(1)	ovary(3)|kidney(1)|pancreas(1)	5	c.(2371-2373)CCC>CCA			hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF13	FYVE, RhoGEF and PH domain containing 5				ENSP00000285046		20-Jan									COSM3408334,COSM3408333	20-Jan	.		ENST00000285046	Transcript			actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	ENSG00000154783	g.chr3:14862951C>A	19117			LOW								--	--	1																																		FGD5_uc011avk.1_Silent_p.P791P	1,1	1			p.P791P	NM_152536	NP_689749			1,1	FGD5_HUMAN	FGD5	HGNC	Q6ZNL6	FGD5_HUMAN			A3KMQ0_HUMAN		1	2483	+			UPI00002372AE	791					SNV	FGD5,synonymous_variant,p.=,ENST00000285046,NM_152536.3;FGD5,synonymous_variant,p.=,ENST00000543601,;FGD5,synonymous_variant,p.=,ENST00000457774,;	uc003bzc.2	c.2373C>A	2483/5720	2	2			c.2373C>A						3	SNP	c.(2371-2373)CCC>CCA	21	21		p.A791A(1)	ovary(3)|kidney(1)|pancreas(1)	5	Broad	FYVE, RhoGEF and PH domain containing 5			14862951		0.537	ENSG00000154783	5734	g.chr3:14862951C>A	actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding							23.81319	KEEP	10	24	0.705882353	116	170	10	24	0.705882353	63.826822	116	170	0.109434	1	0	0	0	0	0	0	1	0	--	--		0	A			FGD5_uc011avk.1_Silent_p.P791P	204	GBM-27-2527-TP	p.P791P	C	AGATTCCACCCCGGAGACCTG	NM_152536	NP_689749	14862951	Q6ZNL6	FGD5_HUMAN	0			1	2483	+	A	A			Silent	791						
FGD5	0	broad.mit.edu	GRCh37	3	14861789	14861789	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285046.5:c.1211C>T	p.Ala404Val	p.A404V	ENST00000285046	NM_152536.3	404	gCg/gTg	0			1			T	A/V	uc003bzc.2	protein_coding	YES	CCDS46767.1			1211/4389									ovary(3)|kidney(1)|pancreas(1)	5	c.(1210-1212)GCG>GTG				FYVE, RhoGEF and PH domain containing 5				ENSP00000285046		20-Jan	2.48E-05				0.000152	1.55E-05			rs749435304,COSM3408326,COSM3408325	20-Jan	.		ENST00000285046	Transcript			actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	ENSG00000154783	g.chr3:14861789C>T	19117			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=FGD5_HUMAN&rb=305&re=453&var=A404V	NA	getma.org/?cm=var&var=hg19,3,14861789,C,T&fts=all	A404V	--	--	1																																		FGD5_uc011avk.1_Missense_Mutation_p.A404V	0,1,1	1		benign(0.01)	p.A404V	NM_152536	NP_689749		tolerated_low_confidence(0.22)	0,1,1	FGD5_HUMAN	FGD5	HGNC	Q6ZNL6	FGD5_HUMAN			A3KMQ0_HUMAN		1	1321	+			UPI00002372AE	404					SNV	FGD5,missense_variant,p.Ala404Val,ENST00000285046,NM_152536.3;FGD5,missense_variant,p.Ala163Val,ENST00000543601,;FGD5,upstream_gene_variant,,ENST00000457774,;	uc003bzc.2	c.1211C>T	1321/5720	1	1			c.1211C>T						3	SNP	c.(1210-1212)GCG>GTG	2	2			ovary(3)|kidney(1)|pancreas(1)	5	Broad	FYVE, RhoGEF and PH domain containing 5			14861789		0.647	ENSG00000154783	5734	g.chr3:14861789C>T	actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding							29.830795	KEEP	3	10	-1	13	18	3	10	-1	31.034087	13	18	0.305556	1	0	0	0	0	1	0	0	0	--	--		0	T			FGD5_uc011avk.1_Missense_Mutation_p.A404V	207	GBM-28-1753-TP	p.A404V	C	CAGGGTGGAGCGGCCGAGGGT	NM_152536	NP_689749	14861789	Q6ZNL6	FGD5_HUMAN	0			1	1321	+	T	T			Missense_Mutation	404						
FGD5	0	broad.mit.edu	GRCh37	3	14861995	14861995	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01	TCGA-32-4210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285046.5:c.1417G>A	p.Ala473Thr	p.A473T	ENST00000285046	NM_152536.3	473	Gcg/Acg	0			1			A	A/T	uc003bzc.2	protein_coding	YES	CCDS46767.1			1417/4389									ovary(3)|kidney(1)|pancreas(1)	5	c.(1417-1419)GCG>ACG			hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF13	FYVE, RhoGEF and PH domain containing 5				ENSP00000285046		20-Jan	0.000157							0.00115	rs760161782,COSM3408328,COSM3408327	20-Jan	common_variant		ENST00000285046	Transcript			actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	ENSG00000154783	g.chr3:14861995G>A	19117			MODERATE		-1.1	neutral	getma.org/?cm=msa&ty=f&p=FGD5_HUMAN&rb=455&re=895&var=A473T	NA	getma.org/?cm=var&var=hg19,3,14861995,G,A&fts=all	A473T	--	--	1																																		FGD5_uc011avk.1_Missense_Mutation_p.A473T	0,1,1	1		benign(0.001)	p.A473T	NM_152536	NP_689749		tolerated(0.27)	0,1,1	FGD5_HUMAN	FGD5	HGNC	Q6ZNL6	FGD5_HUMAN			A3KMQ0_HUMAN		1	1527	+			UPI00002372AE	473					SNV	FGD5,missense_variant,p.Ala473Thr,ENST00000285046,NM_152536.3;FGD5,missense_variant,p.Ala232Thr,ENST00000543601,;FGD5,upstream_gene_variant,,ENST00000457774,;	uc003bzc.2	c.1417G>A	1527/5720	2	2			c.1417G>A						3	SNP	c.(1417-1419)GCG>ACG	46	46			ovary(3)|kidney(1)|pancreas(1)	5	Broad	FYVE, RhoGEF and PH domain containing 5			14861995		0.642	ENSG00000154783	5734	g.chr3:14861995G>A	actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding							51.41206	KEEP	10	14	-1	42	27	10	14	-1	56.06211	42	27	0.255814	1	0	0	0	0	1	0	0	0	--	--		0	A			FGD5_uc011avk.1_Missense_Mutation_p.A473T	245	GBM-32-4210-TP	p.A473T	G	CCTGGTTCCCGCGGACAGGAA	NM_152536	NP_689749	14861995	Q6ZNL6	FGD5_HUMAN	0			1	1527	+	A	A			Missense_Mutation	473						
FGD5	0	broad.mit.edu	GRCh37	3	14862435	14862435	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4927-01	TCGA-76-4927-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285046.5:c.1857C>T	p.Phe619=	p.F619=	ENST00000285046	NM_152536.3	619	ttC/ttT	0			1			T	F	uc003bzc.2	protein_coding	YES	CCDS46767.1			1857/4389									ovary(3)|kidney(1)|pancreas(1)	5	c.(1855-1857)TTC>TTT			hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF13	FYVE, RhoGEF and PH domain containing 5				ENSP00000285046		20-Jan	4.96E-05					9.06E-05			rs771459242,COSM2151355,COSM2151354	20-Jan	.		ENST00000285046	Transcript			actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	ENSG00000154783	g.chr3:14862435C>T	19117			LOW								--	--	1																																		FGD5_uc011avk.1_Silent_p.F619F	0,1,1	1			p.F619F	NM_152536	NP_689749			0,1,1	FGD5_HUMAN	FGD5	HGNC	Q6ZNL6	FGD5_HUMAN			A3KMQ0_HUMAN		1	1967	+			UPI00002372AE	619					SNV	FGD5,synonymous_variant,p.=,ENST00000285046,NM_152536.3;FGD5,synonymous_variant,p.=,ENST00000543601,;FGD5,upstream_gene_variant,,ENST00000457774,;	uc003bzc.2	c.1857C>T	1967/5720	1	1			c.1857C>T						3	SNP	c.(1855-1857)TTC>TTT	15	15			ovary(3)|kidney(1)|pancreas(1)	5	Broad	FYVE, RhoGEF and PH domain containing 5			14862435		0.557	ENSG00000154783	5734	g.chr3:14862435C>T	actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding							184.709106	KEEP	28	44	-1	52	44	28	44	-1	185.056034	52	44	0.446809	1	0	0	0	0	0	0	1	0	--	--		0	T			FGD5_uc011avk.1_Silent_p.F619F	267	GBM-76-4927-TP	p.F619F	C	CACCTCCTTTCGACCTGGCCT	NM_152536	NP_689749	14862435	Q6ZNL6	FGD5_HUMAN	0			1	1967	+	T	T			Silent	619						
FGD5	0	broad.mit.edu	GRCh37	3	14862054	14862054	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-76-6282-01	TCGA-76-6282-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285046.5:c.1476T>C	p.Tyr492=	p.Y492=	ENST00000285046	NM_152536.3	492	taT/taC	0			1			C	Y	uc003bzc.2	protein_coding	YES	CCDS46767.1			1476/4389									ovary(3)|kidney(1)|pancreas(1)	5	c.(1474-1476)TAT>TAC			hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF13	FYVE, RhoGEF and PH domain containing 5				ENSP00000285046		20-Jan									COSM3408330,COSM3408329	20-Jan	.		ENST00000285046	Transcript			actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	ENSG00000154783	g.chr3:14862054T>C	19117			LOW								--	--	1																																		FGD5_uc011avk.1_Silent_p.Y492Y	1,1	1			p.Y492Y	NM_152536	NP_689749			1,1	FGD5_HUMAN	FGD5	HGNC	Q6ZNL6	FGD5_HUMAN			A3KMQ0_HUMAN		1	1586	+			UPI00002372AE	492					SNV	FGD5,synonymous_variant,p.=,ENST00000285046,NM_152536.3;FGD5,synonymous_variant,p.=,ENST00000543601,;FGD5,upstream_gene_variant,,ENST00000457774,;	uc003bzc.2	c.1476T>C	1586/5720	3	3			c.1476T>C						3	SNP	c.(1474-1476)TAT>TAC	13	13			ovary(3)|kidney(1)|pancreas(1)	5	Broad	FYVE, RhoGEF and PH domain containing 5			14862054		0.612	ENSG00000154783	5734	g.chr3:14862054T>C	actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding							67.709614	KEEP	6	20	-1	16	22	6	20	-1	68.337412	16	22	0.389831	1	0	0	0	0	0	0	1	0	--	--		0	C			FGD5_uc011avk.1_Silent_p.Y492Y	278	GBM-76-6282-TP	p.Y492Y	T	TGGCCGGCTATGTCCCAGAAA	NM_152536	NP_689749	14862054	Q6ZNL6	FGD5_HUMAN	0			1	1586	+	C	C			Silent	492						
FGD6	55785	broad.mit.edu	GRCh37	12	95603382	95603382	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs149076340	byFrequency	TCGA-06-0192-01	TCGA-06-0192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343958.4:c.1678C>T	p.Arg560Trp	p.R560W	ENST00000343958	NM_018351.3	560	Cgg/Tgg	0	A:0.0005	A:0.0008	1	A:0		A	R/W	uc001tdp.3	protein_coding	YES	CCDS31878.1			1678/4293									ovary(2)|breast(1)	3	c.(1678-1680)CGG>TGG			hmmpanther:PTHR12673:SF12,hmmpanther:PTHR12673	FYVE, RhoGEF and PH domain containing 6		A:0.002	A:0	ENSP00000344446	A:0	21-Feb	0.000173	0.000195		0.00197				0.000122	rs149076340,COSM1513292	21-Feb	common_variant		ENST00000343958	Transcript		A:0.0006	actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	ENSG00000180263	g.chr12:95603382G>A	21740			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=FGD6_HUMAN&rb=3&re=857&var=R560W	NA	getma.org/?cm=var&var=hg19,12,95603382,G,A&fts=all	R560W	--	--	1																																		FGD6_uc009zsx.2_Intron	0,1	1		possibly_damaging(0.841)	p.R560W	NM_018351	NP_060821	A:0	deleterious(0)	0,1	FGD6_HUMAN	FGD6	HGNC	Q6ZV73	FGD6_HUMAN			F8VY01_HUMAN		2	1902	-			UPI00001FB2F4	560					SNV	FGD6,missense_variant,p.Arg560Trp,ENST00000343958,NM_018351.3;FGD6,missense_variant,p.Arg560Trp,ENST00000546711,;FGD6,missense_variant,p.Arg560Trp,ENST00000549499,;FGD6,upstream_gene_variant,,ENST00000550368,;FGD6,intron_variant,,ENST00000451107,;	uc001tdp.3	c.1678C>T	1902/9288	1	1			c.1678C>T						12	SNP	c.(1678-1680)CGG>TGG	59	59			ovary(2)|breast(1)	3	Broad	FYVE, RhoGEF and PH domain containing 6			95603382		0.423	ENSG00000180263	5735	g.chr12:95603382G>A	actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding							143.274535	KEEP	33	26	-1	98	72	33	26	-1	153.997863	98	72	0.265116	1	0	0	0	0	1	0	0	0	--	--		0	A			FGD6_uc009zsx.2_Intron	44	GBM-06-0192-TP	p.R560W	G	TCTGAAGCCCGTTTAGGCATA	NM_018351	NP_060821	95603382	Q6ZV73	FGD6_HUMAN	0			2	1902	-	A	A			Missense_Mutation	560						
FGF14	2259	broad.mit.edu	GRCh37	13	102375254	102375254	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01	TCGA-02-2470-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376131.4:c.686C>T	p.Thr229Met	p.T229M	ENST00000376131	NM_175929.2	229	aCg/aTg	0			1			A	T/M	uc001vpe.2	protein_coding		CCDS9501.1			671/744									ovary(2)|lung(1)|large_intestine(1)	4	c.(670-672)ACG>ATG			hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF18	fibroblast growth factor 14 isoform 1A				ENSP00000365313		5-May	1.65E-05				0.000151	1.50E-05			rs757879324,COSM291807,COSM291808	5-May	.		ENST00000376143	Transcript	1		cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	ENSG00000102466	g.chr13:102375254G>A	3671			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=FGF14_HUMAN&rb=198&re=247&var=T224M	NA	getma.org/?cm=var&var=hg19,13,102375254,G,A&fts=all	T224M	--	--	1																																		FGF14_uc001vpf.2_Missense_Mutation_p.T229M|FGF14_uc001vpd.1_5'Flank	0,1,1			possibly_damaging(0.587)	p.T224M	NM_004115	NP_004106		deleterious(0.04)	0,1,1	FGF14_HUMAN	FGF14	HGNC	Q92915	FGF14_HUMAN					5	671	-	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		UPI000003C0F2	224					SNV	FGF14,missense_variant,p.Thr229Met,ENST00000376131,NM_175929.2;FGF14,missense_variant,p.Thr224Met,ENST00000376143,NM_004115.3;ITGBL1,downstream_gene_variant,,ENST00000545560,NM_001271754.1;ITGBL1,downstream_gene_variant,,ENST00000490242,;ITGBL1,non_coding_transcript_exon_variant,,ENST00000415285,;	uc001vpe.2	c.671C>T	671/744	2	2			c.671C>T						13	SNP	c.(670-672)ACG>ATG	41	41			ovary(2)|lung(1)|large_intestine(1)	4	Broad	fibroblast growth factor 14 isoform 1A			102375254		0.473	ENSG00000102466	5741	g.chr13:102375254G>A	cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding							70.446137	KEEP	16	14	-1	48	44	16	14	-1	77.883965	48	44	0.237288	1	0	0	0	0	1	0	0	0	--	--		0	A			FGF14_uc001vpf.2_Missense_Mutation_p.T229M|FGF14_uc001vpd.1_5'Flank	5	GBM-02-2470-TP	p.T224M	G	TTTACTTGGCGTCACCCCAGG	NM_004115	NP_004106	102375254	Q92915	FGF14_HUMAN	0			5	671	-	A	A	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		Missense_Mutation	224						
FGF14	0	broad.mit.edu	GRCh37	13	102375254	102375254	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01	TCGA-32-1970-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376143.4:c.671C>T	p.Thr224Met	p.T224M	ENST00000376143	NM_004115.3	224	aCg/aTg	0			1			A	T/M	uc001vpe.2	protein_coding		CCDS9501.1			671/744									ovary(2)|lung(1)|large_intestine(1)	4	c.(670-672)ACG>ATG			hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF18	fibroblast growth factor 14 isoform 1A				ENSP00000365313		5-May	1.65E-05				0.000151	1.50E-05			rs757879324,COSM291807,COSM291808	5-May	.		ENST00000376143	Transcript	1		cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	ENSG00000102466	g.chr13:102375254G>A	3671			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=FGF14_HUMAN&rb=198&re=247&var=T224M	NA	getma.org/?cm=var&var=hg19,13,102375254,G,A&fts=all	T224M	--	--	1																																		FGF14_uc001vpf.2_Missense_Mutation_p.T229M|FGF14_uc001vpd.1_5'Flank	0,1,1			possibly_damaging(0.587)	p.T224M	NM_004115	NP_004106		deleterious(0.04)	0,1,1	FGF14_HUMAN	FGF14	HGNC	Q92915	FGF14_HUMAN					5	671	-	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		UPI000003C0F2	224					SNV	FGF14,missense_variant,p.Thr229Met,ENST00000376131,NM_175929.2;FGF14,missense_variant,p.Thr224Met,ENST00000376143,NM_004115.3;ITGBL1,downstream_gene_variant,,ENST00000545560,NM_001271754.1;ITGBL1,downstream_gene_variant,,ENST00000490242,;ITGBL1,non_coding_transcript_exon_variant,,ENST00000415285,;	uc001vpe.2	c.671C>T	671/744	2	2			c.671C>T						13	SNP	c.(670-672)ACG>ATG	41	41			ovary(2)|lung(1)|large_intestine(1)	4	Broad	fibroblast growth factor 14 isoform 1A			102375254		0.473	ENSG00000102466	5741	g.chr13:102375254G>A	cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding							167.227409	KEEP	31	28	-1	44	30	31	28	-1	167.567804	44	30	0.443548	1	0	0	0	0	1	0	0	0	--	--		0	A			FGF14_uc001vpf.2_Missense_Mutation_p.T229M|FGF14_uc001vpd.1_5'Flank	228	GBM-32-1970-TP	p.T224M	G	TTTACTTGGCGTCACCCCAGG	NM_004115	NP_004106	102375254	Q92915	FGF14_HUMAN	0			5	671	-	A	A	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		Missense_Mutation	224						
FGF16	0	broad.mit.edu	GRCh37	X	76711875	76711875	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-1597-01	TCGA-12-1597-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000439435.1:c.212C>T	p.Tyr71=	p.Y71=	ENST00000439435		71	taC/taT	0			1			T	Y	uc011mqp.1	protein_coding	YES				213/351									lung(1)	1	c.(211-213)TAC>TAT			Gene3D:2.80.10.50,Pfam_domain:PF00167,hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF27,SMART_domains:SM00442,Superfamily_domains:SSF50353	fibroblast growth factor 16				ENSP00000399324		2-Feb									COSM1125386	2-Feb	.		ENST00000439435	Transcript	1		cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity	ENSG00000196468	g.chrX:76711875C>T	3672			LOW								--	--	1																																			1	1			p.Y71Y	NM_003868	NP_003859			1		FGF16	HGNC	O43320	FGF16_HUMAN					2	486	+			UPI000059DB67	162					SNV	FGF16,synonymous_variant,p.=,ENST00000439435,;	uc011mqp.1	c.213C>T	212/1106	1	1			c.213C>T						23	SNP	c.(211-213)TAC>TAT	2	2			lung(1)	1	Broad	fibroblast growth factor 16			76711875		0.463	ENSG00000196468	5742	g.chrX:76711875C>T	cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity							70.489368	KEEP	14	16	-1	59	57	14	16	-1	81.423975	59	57	0.211268	1	0	0	0	0	0	0	1	0	--	--		0	T				124	GBM-12-1597-TP	p.Y71Y	C	GACAGTATTACGTGGCCCTGA	NM_003868	NP_003859	76711875	O43320	FGF16_HUMAN	0			2	486	+	T	T			Silent	162						
FGF18	8817	broad.mit.edu	GRCh37	5	170883763	170883763	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01	TCGA-06-0645-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274625.5:c.578C>T	p.Thr193Met	p.T193M	ENST00000274625	NM_003862.2	193	aCg/aTg	0			1			T	T/M	uc003mbk.2	protein_coding	YES	CCDS4378.1			578/624										0	c.(577-579)ACG>ATG			hmmpanther:PTHR11486:SF4,hmmpanther:PTHR11486	fibroblast growth factor 18 precursor				ENSP00000274625		5-May	1.65E-05					1.53E-05		6.07E-05	rs748249613,COSM2151292	5-May	.		ENST00000274625	Transcript			cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	ENSG00000156427	g.chr5:170883763C>T	3674			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=FGF18_HUMAN&rb=176&re=207&var=T193M	NA	getma.org/?cm=var&var=hg19,5,170883763,C,T&fts=all	T193M	--	--	1																																			0,1	1		probably_damaging(0.939)	p.T193M	NM_003862	NP_003853		deleterious(0.02)	0,1	FGF18_HUMAN	FGF18	HGNC	O76093	FGF18_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)				5	1115	+	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	UPI000003C116	193					SNV	FGF18,missense_variant,p.Thr193Met,ENST00000274625,NM_003862.2;	uc003mbk.2	c.578C>T	1122/1986	2	2			c.578C>T						5	SNP	c.(577-579)ACG>ATG	43	43				0	Broad	fibroblast growth factor 18 precursor			170883763		0.657	ENSG00000156427	5744	g.chr5:170883763C>T	cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding							43.750948	KEEP	14	10	-1	46	47	14	10	-1	52.320615	46	47	0.19802	1	0	0	0	0	1	0	0	0	--	--		0	T				59	GBM-06-0645-TP	p.T193M	C	AAGTACACGACGGTGACCAAG	NM_003862	NP_003853	170883763	O76093	FGF18_HUMAN	0	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		5	1115	+	T	T	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Missense_Mutation	193						
FGF21	26291		GRCh37	19	49261318	49261318	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000593756.1:c.471A>C	p.Ala157=	p.A157=	ENST00000593756		157	gcA/gcC	0																																																																																																																																																																																																																																												
FGF7	2252		GRCh37	15	49776594	49776594	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000267843.4:c.478G>A	p.Gly160Arg	p.G160R	ENST00000267843	NM_002009.3	160	Gga/Aga	0																																																																																																																																																																																																																																												
FGFBP1	0	broad.mit.edu	GRCh37	4	15937922	15937922	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-2513-01	TCGA-28-2513-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382333.1:c.334T>C	p.Tyr112His	p.Y112H	ENST00000382333	NM_005130.4	112	Tat/Cat	0			1			G	Y/H	uc003gom.2	protein_coding	YES	CCDS3418.1			334/705										0	c.(334-336)TAT>CAT			hmmpanther:PTHR15258:SF2,hmmpanther:PTHR15258,Pfam_domain:PF06473	fibroblast growth factor binding protein 1				ENSP00000371770		3-Mar									COSM3409132	3-Mar	.		ENST00000382333	Transcript			cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding	ENSG00000137440	g.chr4:15937922A>G	19695			MODERATE		2.455	medium	getma.org/?cm=msa&ty=f&p=FGFP1_HUMAN&rb=6&re=231&var=Y112H	NA	getma.org/?cm=var&var=hg19,4,15937922,A,G&fts=all	Y112H	--	--	1																																			1	1		probably_damaging(0.999)	p.Y112H	NM_005130	NP_005121		deleterious(0)	1	FGFP1_HUMAN	FGFBP1	HGNC	Q14512	FGFP1_HUMAN					2	452	-			UPI000004A926	112					SNV	FGFBP1,missense_variant,p.Tyr112His,ENST00000382333,NM_005130.4;FGFBP1,missense_variant,p.Tyr112His,ENST00000259988,;	uc003gom.2	c.334T>C	629/1359	3	3			c.334T>C						4	SNP	c.(334-336)TAT>CAT	7	7				0	Broad	fibroblast growth factor binding protein 1			15937922		0.448	ENSG00000137440	5758	g.chr4:15937922A>G	cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding							48.643184	KEEP	12	15	-1	98	74	12	15	-1	73.466365	98	74	0.132275	1	0	0	0	0	1	0	0	0	--	--		0	G				213	GBM-28-2513-TP	p.Y112H	A	TGTTTCCAATAGACTCTCTCA	NM_005130	NP_005121	15937922	Q14512	FGFP1_HUMAN	0			2	452	-	G	G			Missense_Mutation	112						
FGFBP2	0	broad.mit.edu	GRCh37	4	15964315	15964315	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-0688-01	TCGA-12-0688-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259989.6:c.438G>A	p.Gly146=	p.G146=	ENST00000259989	NM_031950.3	146	ggG/ggA	0			1			T	G	uc003gon.2	protein_coding	YES	CCDS3419.1			438/672										0	c.(436-438)GGG>GGA			Pfam_domain:PF06473,hmmpanther:PTHR15258,hmmpanther:PTHR15258:SF1	killer-specific secretory protein of 37 kDa				ENSP00000259989		2-Jan									COSM2153900	2-Jan	.		ENST00000259989	Transcript				extracellular space	growth factor binding	ENSG00000137441	g.chr4:15964315C>T	29451			LOW								--	--	1																																			1	1			p.G146G	NM_031950	NP_114156			1	FGFP2_HUMAN	FGFBP2	HGNC	Q9BYJ0	FGFP2_HUMAN					1	545	-			UPI0000048EE6	146					SNV	FGFBP2,synonymous_variant,p.=,ENST00000259989,NM_031950.3;FGFBP2,intron_variant,,ENST00000509331,;PROM1,downstream_gene_variant,,ENST00000503884,;	uc003gon.2	c.438G>A	545/1168	1	1			c.438G>A						4	SNP	c.(436-438)GGG>GGA	4	4				0	Broad	killer-specific secretory protein of 37 kDa			15964315		0.617	ENSG00000137441	5759	g.chr4:15964315C>T		extracellular space	growth factor binding							168.292192	KEEP	60	29	-1	107	69	60	29	-1	173.563474	107	69	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	T				121	GBM-12-0688-TP	p.G146G	C	GAGATGGCGTCCCAGCCTCAG	NM_031950	NP_114156	15964315	Q9BYJ0	FGFP2_HUMAN	0			1	545	-	T	T			Silent	146						
FGFR1	0	broad.mit.edu	GRCh37	8	38282202	38282202	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-41-2575-01	TCGA-41-2575-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000447712.2:c.761G>T	p.Arg254Leu	p.R254L	ENST00000447712	NM_001174063.1	254	cGg/cTg	0			1			A	R/L	uc003xlp.2	protein_coding		CCDS6107.2		1	761/2469	T	Pfeiffer syndrome|Kallman syndrome	BCR|FOP|ZNF198|CEP1		MPD|NHL				lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	c.(760-762)CGG>CTG			PIRSF_domain:PIRSF000628,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF131	fibroblast growth factor receptor 1 isoform 1	Palifermin(DB00039)			ENSP00000400162		18-Jul									COSM3413004,COSM3413002,COSM3413005,COSM3413003,COSM3413006,COSM3413001	18-Jul	.		ENST00000447712	Transcript	1		axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	ENSG00000077782	g.chr8:38282202C>A	3688			MODERATE		2.95	medium	getma.org/?cm=msa&ty=f&p=FGFR1_HUMAN&rb=218&re=288&var=R254L	getma.org/pdb.php?prot=FGFR1_HUMAN&from=248&to=258&var=R254L	getma.org/?cm=var&var=hg19,8,38282202,C,A&fts=all	R254L	--	--	1																																		FGFR1_uc011lbo.1_Missense_Mutation_p.R252L|FGFR1_uc011lbp.1_Missense_Mutation_p.R165L|FGFR1_uc011lbq.1_Missense_Mutation_p.R163L|FGFR1_uc010lwk.2_Missense_Mutation_p.R246L|FGFR1_uc011lbr.1_RNA|FGFR1_uc011lbs.1_Missense_Mutation_p.R94L|FGFR1_uc011lbt.1_Missense_Mutation_p.R163L|FGFR1_uc011lbu.1_Missense_Mutation_p.R285L|FGFR1_uc011lbv.1_Missense_Mutation_p.R252L|FGFR1_uc011lbw.1_Missense_Mutation_p.R165L|FGFR1_uc011lbx.1_Missense_Mutation_p.R165L|FGFR1_uc003xlv.2_Missense_Mutation_p.R165L|FGFR1_uc003xlu.2_Missense_Mutation_p.R163L	1,1,1,1,1,1			probably_damaging(0.998)	p.R254L	NM_023110	NP_075598		deleterious(0.02)	1,1,1,1,1,1	FGFR1_HUMAN	FGFR1	HGNC	P11362	FGFR1_HUMAN	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		E9PNM3_HUMAN,E9PN14_HUMAN,D3DSX2_HUMAN,C9J205_HUMAN		7	1703	-	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	UPI00000534B8	254		R -> Q (in KAL2).	Extracellular (Potential).		SNV	FGFR1,missense_variant,p.Arg254Leu,ENST00000447712,NM_001174063.1,NM_023110.2,NM_015850.3;FGFR1,missense_variant,p.Arg255Leu,ENST00000341462,;FGFR1,missense_variant,p.Arg252Leu,ENST00000397091,;FGFR1,missense_variant,p.Arg254Leu,ENST00000532791,;FGFR1,missense_variant,p.Arg285Leu,ENST00000425967,NM_001174067.1;FGFR1,missense_variant,p.Arg246Leu,ENST00000335922,NM_001174064.1;FGFR1,missense_variant,p.Arg165Leu,ENST00000356207,NM_023105.2;FGFR1,missense_variant,p.Arg163Leu,ENST00000326324,NM_023106.2;FGFR1,missense_variant,p.Arg252Leu,ENST00000397113,NM_001174066.1,NM_001174065.1;FGFR1,missense_variant,p.Arg163Leu,ENST00000397103,;FGFR1,missense_variant,p.Arg252Leu,ENST00000397108,;FGFR1,missense_variant,p.Arg254Leu,ENST00000525001,;FGFR1,missense_variant,p.Arg94Leu,ENST00000533668,;FGFR1,downstream_gene_variant,,ENST00000529552,;FGFR1,downstream_gene_variant,,ENST00000526742,;FGFR1,downstream_gene_variant,,ENST00000434187,;FGFR1,downstream_gene_variant,,ENST00000530568,;RP11-350N15.4,intron_variant,,ENST00000528407,;FGFR1,non_coding_transcript_exon_variant,,ENST00000527203,;FGFR1,intron_variant,,ENST00000530701,;FGFR1,3_prime_UTR_variant,,ENST00000487647,;FGFR1,non_coding_transcript_exon_variant,,ENST00000526570,;FGFR1,non_coding_transcript_exon_variant,,ENST00000470826,;FGFR1,non_coding_transcript_exon_variant,,ENST00000496296,;FGFR1,non_coding_transcript_exon_variant,,ENST00000532386,;FGFR1,non_coding_transcript_exon_variant,,ENST00000475621,;FGFR1,upstream_gene_variant,,ENST00000527114,;FGFR1,downstream_gene_variant,,ENST00000484370,;FGFR1,upstream_gene_variant,,ENST00000466021,;FGFR1,upstream_gene_variant,,ENST00000527745,;FGFR1,downstream_gene_variant,,ENST00000397090,;FGFR1,downstream_gene_variant,,ENST00000474970,;FGFR1,upstream_gene_variant,,ENST00000464163,;	uc003xlp.2	c.761G>T	1703/5900	2	2		1	c.761G>T	T	Pfeiffer syndrome|Kallman syndrome	BCR|FOP|ZNF198|CEP1		MPD|NHL	8	SNP	c.(760-762)CGG>CTG	28	28			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	Broad	fibroblast growth factor receptor 1 isoform 1		Palifermin(DB00039)	38282202		0.612	ENSG00000077782	5761	g.chr8:38282202C>A	axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	Melanoma(146;1153 1840 21453 21841 43625)		244	Melanoma(146;1153 1840 21453 21841 43625)		244	-28.486386	KEEP	2	1	0.333333333	74	67	2	1	0.333333333	6.467742	74	67	0.021898	1	0	0	0	0	1	0	0	0	--	--		0	A			FGFR1_uc011lbo.1_Missense_Mutation_p.R252L|FGFR1_uc011lbp.1_Missense_Mutation_p.R165L|FGFR1_uc011lbq.1_Missense_Mutation_p.R163L|FGFR1_uc010lwk.2_Missense_Mutation_p.R246L|FGFR1_uc011lbr.1_RNA|FGFR1_uc011lbs.1_Missense_Mutation_p.R94L|FGFR1_uc011lbt.1_Missense_Mutation_p.R163L|FGFR1_uc011lbu.1_Missense_Mutation_p.R285L|FGFR1_uc011lbv.1_Missense_Mutation_p.R252L|FGFR1_uc011lbw.1_Missense_Mutation_p.R165L|FGFR1_uc011lbx.1_Missense_Mutation_p.R165L|FGFR1_uc003xlv.2_Missense_Mutation_p.R165L|FGFR1_uc003xlu.2_Missense_Mutation_p.R163L	253	GBM-41-2575-TP	p.R254L	C	CAGGATGGGCCGGTGAGGGGA	NM_023110	NP_075598	38282202	P11362	FGFR1_HUMAN	0	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		7	1703	-	A	A	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Missense_Mutation	254		R -> Q (in KAL2).	Extracellular (Potential).			
FGFR3	2261	broad.mit.edu	GRCh37	4	1807889	1807889	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs78311289		TCGA-06-0168-01	TCGA-06-0168-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260795.2:c.1948A>G	p.Lys650Glu	p.K650E	ENST00000260795		650	Aag/Gag	0			1			G	K/E	uc003gdr.3	protein_coding		CCDS3353.1		1	1948/2421	Mis|T	Hypochondroplasia|Thanatophoric dysplasia	IGH@|ETV6		bladder|MM|T-cell lymphoma	pathogenic		p.K650M(76)|p.K650E(71)|p.K650Q(5)|p.K650T(5)|p.K650N(1)	urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600	c.(1948-1950)AAG>GAG			Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000628,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF128,SMART_domains:SM00219,Superfamily_domains:SSF56112	fibroblast growth factor receptor 3 isoform 1	Palifermin(DB00039)			ENSP00000260795		13/17									rs78311289,KinMutBase_FGFR3_DNA:g.13267A>G,COSM719,COSM1757111	13/17	.	Muenke_syndrome|Saethre-Chotzen_syndrome	ENST00000260795	Transcript	1		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	ENSG00000068078	g.chr4:1807889A>G	3690			MODERATE		1.22	low	getma.org/?cm=msa&ty=f&p=FGFR3_HUMAN&rb=472&re=748&var=K650E	getma.org/pdb.php?prot=FGFR3_HUMAN&from=472&to=748&var=K650E	getma.org/?cm=var&var=hg19,4,1807889,A,G&fts=all	K650E	--	--	1																																		FGFR3_uc003gdu.2_Missense_Mutation_p.K652E|FGFR3_uc003gds.3_Missense_Mutation_p.K538E|FGFR3_uc003gdq.3_Missense_Mutation_p.K651E	1,0,1,1			probably_damaging(1)	p.K650E	NM_000142	NP_000133		deleterious(0)	0,0,1,1	FGFR3_HUMAN	FGFR3	HGNC	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Q96T36_HUMAN,Q8NI15_HUMAN		14	2204	+		Breast(71;0.212)|all_epithelial(65;0.241)	UPI000012A72C	650		K -> E (in KERSEB, TD2 and bladder cancer samples; bladder transitional cell carcinoma; somatic mutation).|K -> Q (in hypochondroplasia and bladder cancer; in hypochondroplasia the form is milder than that seen in individuals with the K-540 or M-650 mutations).|K -> M (in KERSEB, ACH and TD1).	Protein kinase.|Cytoplasmic (Potential).		SNV	FGFR3,missense_variant,p.Lys652Glu,ENST00000340107,NM_001163213.1;FGFR3,missense_variant,p.Lys650Glu,ENST00000440486,NM_000142.4;FGFR3,missense_variant,p.Lys651Glu,ENST00000481110,;FGFR3,missense_variant,p.Lys650Glu,ENST00000260795,;FGFR3,missense_variant,p.Lys538Glu,ENST00000412135,NM_022965.3;FGFR3,missense_variant,p.Lys538Glu,ENST00000352904,;FGFR3,downstream_gene_variant,,ENST00000507588,;FGFR3,downstream_gene_variant,,ENST00000474521,;FGFR3,downstream_gene_variant,,ENST00000469068,;	uc003gdr.3	c.1948A>G	2050/4132	4	4		1	c.1948A>G	Mis|T	Hypochondroplasia|Thanatophoric dysplasia	IGH@|ETV6		bladder|MM|T-cell lymphoma	4	SNP	c.(1948-1950)AAG>GAG	17	17		p.K650M(76)|p.K650E(71)|p.K650Q(5)|p.K650T(5)|p.K650N(1)	urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600	Broad	fibroblast growth factor receptor 3 isoform 1		Palifermin(DB00039)	1807889	Muenke_syndrome|Saethre-Chotzen_syndrome	0.667	ENSG00000068078	5765	g.chr4:1807889A>G	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding		p.K650E(OPM2-Tumor)|p.K650E(J82-Tumor)	527		p.K650E(OPM2-Tumor)|p.K650E(J82-Tumor)	527	24.484709	KEEP	4	5	-1	14	13	4	5	-1	26.479932	14	13	0.242424	1	0	0	0	0	1	0	0	0	--	--		0	G			FGFR3_uc003gdu.2_Missense_Mutation_p.K652E|FGFR3_uc003gds.3_Missense_Mutation_p.K538E|FGFR3_uc003gdq.3_Missense_Mutation_p.K651E	33	GBM-06-0168-TP	p.K650E	A	CTACTACAAGAAGACGACCAA	NM_000142	NP_000133	1807889	P22607	FGFR3_HUMAN	0	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		14	2204	+	G	G		Breast(71;0.212)|all_epithelial(65;0.241)	Missense_Mutation	650		K -> E (in KERSEB, TD2 and bladder cancer samples; bladder transitional cell carcinoma; somatic mutation).|K -> Q (in hypochondroplasia and bladder cancer; in hypochondroplasia the form is milder than that seen in individuals with the K-540 or M-650 mutations).|K -> M (in KERSEB, ACH and TD1).	Protein kinase.|Cytoplasmic (Potential).			
FGFR3	2261	broad.mit.edu	GRCh37	4	1808950	1808951	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C			TCGA-06-0644-01	TCGA-06-0644-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260795.2:c.2387dup	p.Ala797GlyfsTer20	p.A797Gfs*20	ENST00000260795		794	-/C	0			1			C	-/X	uc003gdr.3	protein_coding		CCDS3353.1		1	2382-2383/2421	Mis|T	Hypochondroplasia|Thanatophoric dysplasia	IGH@|ETV6		bladder|MM|T-cell lymphoma			p.P795fs*139(1)|p.L794fs*23(1)	urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600	c.(2380-2385)CTGCCCfs			PIRSF_domain:PIRSF000628,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF128	fibroblast growth factor receptor 3 isoform 1	Palifermin(DB00039)			ENSP00000260795		17/17										17/17	.	Muenke_syndrome|Saethre-Chotzen_syndrome	ENST00000260795	Transcript	1		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	ENSG00000068078	g.chr4:1808950_1808951insC	3690	5		HIGH								--	--	1																																		FGFR3_uc003gdu.2_Frame_Shift_Ins_p.L796fs|FGFR3_uc003gds.3_Frame_Shift_Ins_p.L682fs|FGFR3_uc003gdq.3_Frame_Shift_Ins_p.A772fs					p.L794fs	NM_000142	NP_000133				FGFR3_HUMAN	FGFR3	HGNC	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Q96T36_HUMAN,Q8NI15_HUMAN		18	2638_2639	+		Breast(71;0.212)|all_epithelial(65;0.241)	UPI000012A72C	794_795			Cytoplasmic (Potential).		insertion	FGFR3,frameshift_variant,p.Ala799GlyfsTer20,ENST00000340107,NM_001163213.1;FGFR3,frameshift_variant,p.Ala797GlyfsTer20,ENST00000440486,NM_000142.4;FGFR3,frameshift_variant,p.Gly774ArgfsTer24,ENST00000481110,;FGFR3,frameshift_variant,p.Ala797GlyfsTer20,ENST00000260795,;FGFR3,frameshift_variant,p.Ala685GlyfsTer20,ENST00000412135,NM_022965.3;FGFR3,frameshift_variant,p.Ala685GlyfsTer20,ENST00000352904,;LETM1,downstream_gene_variant,,ENST00000302787,NM_012318.2;FGFR3,downstream_gene_variant,,ENST00000507588,;FGFR3,downstream_gene_variant,,ENST00000474521,;FGFR3,downstream_gene_variant,,ENST00000469068,;	uc003gdr.3	c.2382_2383insC	2484-2485/4132	5	5		1	c.2382_2383insC	Mis|T	Hypochondroplasia|Thanatophoric dysplasia	IGH@|ETV6		bladder|MM|T-cell lymphoma	4	INS	c.(2380-2385)CTGCCCfs	64	64		p.P795fs*139(1)|p.L794fs*23(1)	urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600	Broad	fibroblast growth factor receptor 3 isoform 1		Palifermin(DB00039)	1808951	Muenke_syndrome|Saethre-Chotzen_syndrome	0.688	ENSG00000068078	5765	g.chr4:1808950_1808951insC	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			527			527														0.24	1	0	0	1	1	0	0	0	0	--	--		0	C			FGFR3_uc003gdu.2_Frame_Shift_Ins_p.L796fs|FGFR3_uc003gds.3_Frame_Shift_Ins_p.L682fs|FGFR3_uc003gdq.3_Frame_Shift_Ins_p.A772fs	58	GBM-06-0644-TP	p.L794fs	-	ACGACCTGCTGCCCCCGGCCCC	NM_000142	NP_000133	1808950	P22607	FGFR3_HUMAN	0	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		18	2638_2639	+	C	C		Breast(71;0.212)|all_epithelial(65;0.241)	Frame_Shift_Ins	794_795			Cytoplasmic (Potential).			
FGFR3	0	broad.mit.edu	GRCh37	4	1807639	1807639	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260795.2:c.1808G>A	p.Arg603Gln	p.R603Q	ENST00000260795		603	cGg/cAg	0			1			A	R/Q	uc003gdr.3	protein_coding		CCDS3353.1		1	1808/2421	Mis|T	Hypochondroplasia|Thanatophoric dysplasia	IGH@|ETV6		bladder|MM|T-cell lymphoma				urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600	c.(1807-1809)CGG>CAG			Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000628,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF128,SMART_domains:SM00219,Superfamily_domains:SSF56112	fibroblast growth factor receptor 3 isoform 1	Palifermin(DB00039)			ENSP00000260795		17-Dec									COSM2156095,COSM2156094	17-Dec	.	Muenke_syndrome|Saethre-Chotzen_syndrome	ENST00000260795	Transcript	1		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	ENSG00000068078	g.chr4:1807639G>A	3690			MODERATE		-0.03	neutral	getma.org/?cm=msa&ty=f&p=FGFR3_HUMAN&rb=472&re=748&var=R603Q	getma.org/pdb.php?prot=FGFR3_HUMAN&from=472&to=748&var=R603Q	getma.org/?cm=var&var=hg19,4,1807639,G,A&fts=all	R603Q	--	--	1																																		FGFR3_uc003gdu.2_Missense_Mutation_p.R605Q|FGFR3_uc003gds.3_Missense_Mutation_p.R491Q|FGFR3_uc003gdq.3_Missense_Mutation_p.R604Q	1,1			probably_damaging(0.983)	p.R603Q	NM_000142	NP_000133		deleterious(0)	1,1	FGFR3_HUMAN	FGFR3	HGNC	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Q96T36_HUMAN,Q8NI15_HUMAN		13	2064	+		Breast(71;0.212)|all_epithelial(65;0.241)	UPI000012A72C	603			Protein kinase.|Cytoplasmic (Potential).		SNV	FGFR3,missense_variant,p.Arg605Gln,ENST00000340107,NM_001163213.1;FGFR3,missense_variant,p.Arg603Gln,ENST00000440486,NM_000142.4;FGFR3,missense_variant,p.Arg604Gln,ENST00000481110,;FGFR3,missense_variant,p.Arg603Gln,ENST00000260795,;FGFR3,missense_variant,p.Arg491Gln,ENST00000412135,NM_022965.3;FGFR3,missense_variant,p.Arg491Gln,ENST00000352904,;FGFR3,downstream_gene_variant,,ENST00000507588,;FGFR3,downstream_gene_variant,,ENST00000474521,;FGFR3,downstream_gene_variant,,ENST00000469068,;	uc003gdr.3	c.1808G>A	1910/4132	1	1		1	c.1808G>A	Mis|T	Hypochondroplasia|Thanatophoric dysplasia	IGH@|ETV6		bladder|MM|T-cell lymphoma	4	SNP	c.(1807-1809)CGG>CAG	55	55			urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600	Broad	fibroblast growth factor receptor 3 isoform 1		Palifermin(DB00039)	1807639	Muenke_syndrome|Saethre-Chotzen_syndrome	0.612	ENSG00000068078	5765	g.chr4:1807639G>A	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			527			527	64.015288	KEEP	13	17	-1	58	64	13	17	-1	73.073375	58	64	0.214876	1	0	0	0	0	1	0	0	0	--	--		0	A			FGFR3_uc003gdu.2_Missense_Mutation_p.R605Q|FGFR3_uc003gds.3_Missense_Mutation_p.R491Q|FGFR3_uc003gdq.3_Missense_Mutation_p.R604Q	160	GBM-19-1790-TP	p.R603Q	G	CAGGTGGCCCGGGGCATGGAG	NM_000142	NP_000133	1807639	P22607	FGFR3_HUMAN	0	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		13	2064	+	A	A		Breast(71;0.212)|all_epithelial(65;0.241)	Missense_Mutation	603			Protein kinase.|Cytoplasmic (Potential).			
FGFR3	2261		GRCh37	4	1806181	1806181	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000260795.2:c.1206del	p.Lys403ArgfsTer29	p.K403Rfs*29	ENST00000260795		400	agC/ag	0																																																																																																																																																																																																																																												
FGFR4	0	broad.mit.edu	GRCh37	5	176520301	176520301	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-19-2629-01	TCGA-19-2629-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000292408.4:c.1220A>C	p.Gln407Pro	p.Q407P	ENST00000292408	NM_213647.1	407	cAg/cCg	0			1			C	Q/P	uc003mfl.2	protein_coding	YES	CCDS4410.1			1220/2409									lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16	c.(1219-1221)CAG>CCG			PIRSF_domain:PIRSF000628,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF312	fibroblast growth factor receptor 4 isoform 1	Palifermin(DB00039)			ENSP00000292408		18-Sep									COSM3748297	18-Sep	.		ENST00000292408	Transcript			insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	ENSG00000160867	g.chr5:176520301A>C	3691			MODERATE		2.25	medium	getma.org/?cm=msa&ty=f&p=FGFR4_HUMAN&rb=351&re=466&var=Q407P	NA	getma.org/?cm=var&var=hg19,5,176520301,A,C&fts=all	Q407P	--	--	1				TSP Lung(9;0.080)																														FGFR4_uc003mfm.2_Missense_Mutation_p.Q407P|FGFR4_uc011dfu.1_Intron|FGFR4_uc011dfw.1_3'UTR|FGFR4_uc003mfo.2_Intron	1	1		possibly_damaging(0.791)	p.Q407P	NM_002011	NP_002002		deleterious(0.03)	1	FGFR4_HUMAN	FGFR4	HGNC	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		G3JVM2_HUMAN,E7EWF4_HUMAN,D6RJD4_HUMAN,D6RG06_HUMAN,D6R9V0_HUMAN		9	1387	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	UPI000012A72D	407			Cytoplasmic (Potential).		SNV	FGFR4,missense_variant,p.Gln407Pro,ENST00000292408,NM_213647.1,NM_002011.3;FGFR4,missense_variant,p.Gln407Pro,ENST00000502906,;FGFR4,missense_variant,p.Gln43Pro,ENST00000511076,;FGFR4,intron_variant,,ENST00000292410,;FGFR4,intron_variant,,ENST00000393648,;FGFR4,intron_variant,,ENST00000393637,NM_022963.2;FGFR4,downstream_gene_variant,,ENST00000503708,;FGFR4,downstream_gene_variant,,ENST00000510911,;FGFR4,downstream_gene_variant,,ENST00000513166,;FGFR4,downstream_gene_variant,,ENST00000514472,;FGFR4,downstream_gene_variant,,ENST00000507708,;FGFR4,non_coding_transcript_exon_variant,,ENST00000508139,;FGFR4,downstream_gene_variant,,ENST00000509511,;FGFR4,downstream_gene_variant,,ENST00000430285,;FGFR4,downstream_gene_variant,,ENST00000426612,;FGFR4,upstream_gene_variant,,ENST00000483872,;FGFR4,upstream_gene_variant,,ENST00000513423,;	uc003mfl.2	c.1220A>C	1465/3122	4	4			c.1220A>C						5	SNP	c.(1219-1221)CAG>CCG	43	43			lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16	Broad	fibroblast growth factor receptor 4 isoform 1		Palifermin(DB00039)	176520301		0.692	ENSG00000160867	5766	g.chr5:176520301A>C	insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			219			219	-6.861747	KEEP	2	5	-1	64	49	2	5	-1	14.149929	64	49	0.065421	1	0	0	0	0	1	0	0	0	--	--	TSP Lung(9;0.080)	0	C			FGFR4_uc003mfm.2_Missense_Mutation_p.Q407P|FGFR4_uc011dfu.1_Intron|FGFR4_uc011dfw.1_3'UTR|FGFR4_uc003mfo.2_Intron	166	GBM-19-2629-TP	p.Q407P	A	GCCACTGTGCAGAAGCTCTCC	NM_002011	NP_002002	176520301	P22455	FGFR4_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1387	+	C	C	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Missense_Mutation	407			Cytoplasmic (Potential).			
FGFRL1	0	broad.mit.edu	GRCh37	4	1018839	1018839	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-12-0821-01	TCGA-12-0821-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264748.6:c.1219A>C	p.Thr407Pro	p.T407P	ENST00000264748	NM_021923.3	407	Acc/Ccc	0			1			C	T/P	uc003gce.2	protein_coding		CCDS3344.1			1219/1515										0	c.(1219-1221)ACC>CCC			Low_complexity_(Seg):seg,hmmpanther:PTHR19890:SF5,hmmpanther:PTHR19890	fibroblast growth factor receptor-like 1				ENSP00000264748		6-Jun									COSM3748248,COSM3748249	6-Jun	.		ENST00000264748	Transcript			regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	ENSG00000127418	g.chr4:1018839A>C	3693			MODERATE		-0.695	neutral	getma.org/?cm=msa&ty=f&p=FGRL1_HUMAN&rb=356&re=504&var=T407P	NA	getma.org/?cm=var&var=hg19,4,1018839,A,C&fts=all	T407P	--	--	1																																		FGFRL1_uc003gcf.2_Missense_Mutation_p.T407P|FGFRL1_uc003gcg.2_Missense_Mutation_p.T407P|FGFRL1_uc010ibo.2_Missense_Mutation_p.T407P	1,1			benign(0.001)	p.T407P	NM_021923	NP_068742		tolerated(0.26)	1,1	FGRL1_HUMAN	FGFRL1	HGNC	Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		D6REM7_HUMAN,D6RBN8_HUMAN,A0PJ49_HUMAN		7	1380	+			UPI000003ED0B	407			Cytoplasmic (Potential).		SNV	FGFRL1,missense_variant,p.Thr407Pro,ENST00000398484,;FGFRL1,missense_variant,p.Thr407Pro,ENST00000264748,NM_021923.3,NM_001004358.1;FGFRL1,missense_variant,p.Thr407Pro,ENST00000510644,NM_001004356.2;FGFRL1,missense_variant,p.Thr407Pro,ENST00000504138,;FGFRL1,downstream_gene_variant,,ENST00000512174,;FGFRL1,downstream_gene_variant,,ENST00000507339,;RP11-460I19.2,upstream_gene_variant,,ENST00000503095,;	uc003gce.2	c.1219A>C	1254/3100	3	3			c.1219A>C						4	SNP	c.(1219-1221)ACC>CCC	1	1				0	Broad	fibroblast growth factor receptor-like 1			1018839		0.731	ENSG00000127418	5767	g.chr4:1018839A>C	regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding							-8.946512	KEEP	8	12	-1	51	38	8	12	-1	6.726515	51	38	0.073171	1	0	0	0	0	1	0	0	0	--	--		0	C			FGFRL1_uc003gcf.2_Missense_Mutation_p.T407P|FGFRL1_uc003gcg.2_Missense_Mutation_p.T407P|FGFRL1_uc010ibo.2_Missense_Mutation_p.T407P	123	GBM-12-0821-TP	p.T407P	A	GAAGCCGTGCACCCCCGCGCC	NM_021923	NP_068742	1018839	Q8N441	FGRL1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	1380	+	C	C			Missense_Mutation	407			Cytoplasmic (Potential).			
FGFRL1	0	broad.mit.edu	GRCh37	4	1019042	1019042	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264748.6:c.1422C>T	p.Leu474=	p.L474=	ENST00000264748	NM_021923.3	474	ctC/ctT	0			1			T	L	uc003gce.2	protein_coding		CCDS3344.1			1422/1515										0	c.(1420-1422)CTC>CTT			hmmpanther:PTHR19890:SF5,hmmpanther:PTHR19890	fibroblast growth factor receptor-like 1				ENSP00000264748		6-Jun									COSM3408947	6-Jun	.		ENST00000264748	Transcript			regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	ENSG00000127418	g.chr4:1019042C>T	3693			LOW								--	--	1																																		FGFRL1_uc003gcf.2_Silent_p.L474L|FGFRL1_uc003gcg.2_Silent_p.L474L|FGFRL1_uc010ibo.2_Silent_p.L474L	1				p.L474L	NM_021923	NP_068742			1	FGRL1_HUMAN	FGFRL1	HGNC	Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		D6REM7_HUMAN,D6RBN8_HUMAN,A0PJ49_HUMAN		7	1583	+			UPI000003ED0B	474			Cytoplasmic (Potential).		SNV	FGFRL1,synonymous_variant,p.=,ENST00000398484,;FGFRL1,synonymous_variant,p.=,ENST00000264748,NM_021923.3,NM_001004358.1;FGFRL1,synonymous_variant,p.=,ENST00000510644,NM_001004356.2;FGFRL1,synonymous_variant,p.=,ENST00000504138,;FGFRL1,downstream_gene_variant,,ENST00000512174,;FGFRL1,downstream_gene_variant,,ENST00000507339,;RP11-460I19.2,upstream_gene_variant,,ENST00000503095,;	uc003gce.2	c.1422C>T	1457/3100	2	2			c.1422C>T						4	SNP	c.(1420-1422)CTC>CTT	30	30				0	Broad	fibroblast growth factor receptor-like 1			1019042		0.473	ENSG00000127418	5767	g.chr4:1019042C>T	regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding							13.0655	KEEP	3	3	-1	6	11	3	3	-1	14.029951	6	11	0.263158	1	0	0	0	0	0	0	1	0	--	--		0	T			FGFRL1_uc003gcf.2_Silent_p.L474L|FGFRL1_uc003gcg.2_Silent_p.L474L|FGFRL1_uc010ibo.2_Silent_p.L474L	229	GBM-32-1977-TP	p.L474L	C	ACCCCAAACTCTacacagaca	NM_021923	NP_068742	1019042	Q8N441	FGRL1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	1583	+	T	T			Silent	474			Cytoplasmic (Potential).			
FGFRL1	0	broad.mit.edu	GRCh37	4	1018886	1018886	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-4211-01	TCGA-32-4211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264748.6:c.1266G>A	p.Thr422=	p.T422=	ENST00000264748	NM_021923.3	422	acG/acA	0	A:0		1			A	T	uc003gce.2	protein_coding		CCDS3344.1			1266/1515										0	c.(1264-1266)ACG>ACA			Low_complexity_(Seg):seg,hmmpanther:PTHR19890:SF5,hmmpanther:PTHR19890	fibroblast growth factor receptor-like 1			A:0.0001	ENSP00000264748		6-Jun	9.19E-05					0.000179		6.43E-05	rs375150331,COSM2157394,COSM2157395	6-Jun	.		ENST00000264748	Transcript			regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	ENSG00000127418	g.chr4:1018886G>A	3693			LOW								--	--	1																																		FGFRL1_uc003gcf.2_Silent_p.T422T|FGFRL1_uc003gcg.2_Silent_p.T422T|FGFRL1_uc010ibo.2_Silent_p.T422T	0,1,1				p.T422T	NM_021923	NP_068742			0,1,1	FGRL1_HUMAN	FGFRL1	HGNC	Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		D6REM7_HUMAN,D6RBN8_HUMAN,A0PJ49_HUMAN		7	1427	+			UPI000003ED0B	422			Cytoplasmic (Potential).		SNV	FGFRL1,synonymous_variant,p.=,ENST00000398484,;FGFRL1,synonymous_variant,p.=,ENST00000264748,NM_021923.3,NM_001004358.1;FGFRL1,synonymous_variant,p.=,ENST00000510644,NM_001004356.2;FGFRL1,synonymous_variant,p.=,ENST00000504138,;FGFRL1,downstream_gene_variant,,ENST00000512174,;FGFRL1,downstream_gene_variant,,ENST00000507339,;RP11-460I19.2,upstream_gene_variant,,ENST00000503095,;	uc003gce.2	c.1266G>A	1301/3100	2	2			c.1266G>A						4	SNP	c.(1264-1266)ACG>ACA	47	47				0	Broad	fibroblast growth factor receptor-like 1			1018886		0.731	ENSG00000127418	5767	g.chr4:1018886G>A	regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding							34.424087	KEEP	4	9	-1	4	16	4	9	-1	34.433503	4	16	0.478261	1	0	0	0	0	0	0	1	0	--	--		0	A			FGFRL1_uc003gcf.2_Silent_p.T422T|FGFRL1_uc003gcg.2_Silent_p.T422T|FGFRL1_uc010ibo.2_Silent_p.T422T	246	GBM-32-4211-TP	p.T422T	G	CGCCGGGGACGGCCCGCGACC	NM_021923	NP_068742	1018886	Q8N441	FGRL1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	1427	+	A	A			Silent	422			Cytoplasmic (Potential).			
FGG	0	broad.mit.edu	GRCh37	4	155528020	155528020	+	synonymous_variant	Silent	SNP	G	G	A	rs146218442		TCGA-14-1825-01	TCGA-14-1825-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336098.3:c.966C>T	p.Gly322=	p.G322=	ENST00000336098	NM_021870.2	322	ggC/ggT	0	A:0		1			A	G	uc003ioj.2	protein_coding	YES	CCDS3788.1			966/1362						not_provided				0	c.(964-966)GGC>GGT			Superfamily_domains:SSF56496,SMART_domains:SM00186,Pfam_domain:PF00147,Gene3D:3.90.215.10,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF22,PROSITE_profiles:PS51406,Low_complexity_(Seg):seg	fibrinogen, gamma chain isoform gamma-B	Sucralfate(DB00364)		A:0.0001	ENSP00000336829		9-Aug	4.94E-05		0.000174			6.00E-05			rs146218442,COSM3409117	9-Aug	.		ENST00000336098	Transcript	1		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	ENSG00000171557	g.chr4:155528020G>A	3694			LOW								--	--	1																																		FGG_uc003iog.2_Silent_p.G322G|FGG_uc003ioh.2_Silent_p.G330G|FGG_uc010ipx.2_Silent_p.G150G|FGG_uc010ipy.2_Silent_p.G33G|FGG_uc003ioi.2_Silent_p.G33G|FGG_uc003iok.2_Silent_p.G330G	1,1	1			p.G322G	NM_021870	NP_068656			0,1	FIBG_HUMAN	FGG	HGNC	P02679	FIBG_HUMAN			C9JU00_HUMAN,C9JPQ9_HUMAN		8	1107	-	all_hematologic(180;0.215)	Renal(120;0.0458)	UPI000012A78D	322			Fibrinogen C-terminal.		SNV	FGG,synonymous_variant,p.=,ENST00000404648,NM_000509.4;FGG,synonymous_variant,p.=,ENST00000336098,NM_021870.2;FGG,synonymous_variant,p.=,ENST00000407946,;FGG,synonymous_variant,p.=,ENST00000405164,;FGG,downstream_gene_variant,,ENST00000443553,;FGG,downstream_gene_variant,,ENST00000393846,;FGG,non_coding_transcript_exon_variant,,ENST00000492082,;FGG,non_coding_transcript_exon_variant,,ENST00000465913,;FGG,downstream_gene_variant,,ENST00000473393,;FGG,downstream_gene_variant,,ENST00000465336,;FGG,downstream_gene_variant,,ENST00000464532,;	uc003ioj.2	c.966C>T	1005/1659	2	2			c.966C>T						4	SNP	c.(964-966)GGC>GGT	36	36				0	Broad	fibrinogen, gamma chain isoform gamma-B		Sucralfate(DB00364)	155528020		0.473	ENSG00000171557	5768	g.chr4:155528020G>A	platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding							185.45861	KEEP	36	35	-1	52	48	36	35	-1	186.681774	52	48	0.40625	1	0	0	0	0	0	0	1	0	--	--		0	A			FGG_uc003iog.2_Silent_p.G322G|FGG_uc003ioh.2_Silent_p.G330G|FGG_uc010ipx.2_Silent_p.G150G|FGG_uc010ipy.2_Silent_p.G33G|FGG_uc003ioi.2_Silent_p.G33G|FGG_uc003iok.2_Silent_p.G330G	148	GBM-14-1825-TP	p.G322G	G	TAGGATCATCGCCAAAATCAA	NM_021870	NP_068656	155528020	P02679	FIBG_HUMAN	0			8	1107	-	A	A	all_hematologic(180;0.215)	Renal(120;0.0458)	Silent	322			Fibrinogen C-terminal.			
FGG	0	broad.mit.edu	GRCh37	4	155528109	155528109	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01	TCGA-19-2631-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336098.3:c.877G>A	p.Val293Met	p.V293M	ENST00000336098	NM_021870.2	293	Gtg/Atg	0			1			T	V/M	uc003ioj.2	protein_coding	YES	CCDS3788.1			877/1362										0	c.(877-879)GTG>ATG			Superfamily_domains:SSF56496,SMART_domains:SM00186,Pfam_domain:PF00147,Gene3D:3.90.215.10,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF22,PROSITE_profiles:PS51406	fibrinogen, gamma chain isoform gamma-B	Sucralfate(DB00364)			ENSP00000336829		9-Aug	2.47E-05			0.000232		1.53E-05			rs750162680,COSM1428120	9-Aug	.		ENST00000336098	Transcript	1		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	ENSG00000171557	g.chr4:155528109C>T	3694			MODERATE		2.44	medium	getma.org/?cm=msa&ty=f&p=FIBG_HUMAN&rb=175&re=415&var=V293M	getma.org/pdb.php?prot=FIBG_HUMAN&from=175&to=415&var=V293M	getma.org/?cm=var&var=hg19,4,155528109,C,T&fts=all	V293M	--	--	1																																		FGG_uc003iog.2_Missense_Mutation_p.V293M|FGG_uc003ioh.2_Missense_Mutation_p.V301M|FGG_uc010ipx.2_Missense_Mutation_p.V121M|FGG_uc010ipy.2_Missense_Mutation_p.V4M|FGG_uc003ioi.2_Missense_Mutation_p.V4M|FGG_uc003iok.2_Missense_Mutation_p.V301M	0,1	1		probably_damaging(0.969)	p.V293M	NM_021870	NP_068656		deleterious(0.02)	0,1	FIBG_HUMAN	FGG	HGNC	P02679	FIBG_HUMAN			C9JU00_HUMAN,C9JPQ9_HUMAN		8	1018	-	all_hematologic(180;0.215)	Renal(120;0.0458)	UPI000012A78D	293			Fibrinogen C-terminal.		SNV	FGG,missense_variant,p.Val293Met,ENST00000404648,NM_000509.4;FGG,missense_variant,p.Val293Met,ENST00000336098,NM_021870.2;FGG,missense_variant,p.Val301Met,ENST00000407946,;FGG,missense_variant,p.Val301Met,ENST00000405164,;FGG,downstream_gene_variant,,ENST00000443553,;FGG,downstream_gene_variant,,ENST00000393846,;FGG,non_coding_transcript_exon_variant,,ENST00000492082,;FGG,non_coding_transcript_exon_variant,,ENST00000465913,;FGG,downstream_gene_variant,,ENST00000473393,;FGG,downstream_gene_variant,,ENST00000465336,;FGG,downstream_gene_variant,,ENST00000464532,;	uc003ioj.2	c.877G>A	916/1659	2	2			c.877G>A						4	SNP	c.(877-879)GTG>ATG	41	41				0	Broad	fibrinogen, gamma chain isoform gamma-B		Sucralfate(DB00364)	155528109		0.493	ENSG00000171557	5768	g.chr4:155528109C>T	platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding							194.609131	KEEP	41	38	-1	65	60	41	38	-1	196.498187	65	60	0.385542	1	0	0	0	0	1	0	0	0	--	--		0	T			FGG_uc003iog.2_Missense_Mutation_p.V293M|FGG_uc003ioh.2_Missense_Mutation_p.V301M|FGG_uc010ipx.2_Missense_Mutation_p.V121M|FGG_uc010ipy.2_Missense_Mutation_p.V4M|FGG_uc003ioi.2_Missense_Mutation_p.V4M|FGG_uc003iok.2_Missense_Mutation_p.V301M	167	GBM-19-2631-TP	p.V293M	C	TCAGGTCCCACCTTGAACATG	NM_021870	NP_068656	155528109	P02679	FIBG_HUMAN	0			8	1018	-	T	T	all_hematologic(180;0.215)	Renal(120;0.0458)	Missense_Mutation	293			Fibrinogen C-terminal.			
FGG	0	broad.mit.edu	GRCh37	4	155528019	155528019	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5952-01	TCGA-19-5952-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336098.3:c.967G>A	p.Asp323Asn	p.D323N	ENST00000336098	NM_021870.2	323	Gat/Aat	0			1			T	D/N	uc003ioj.2	protein_coding	YES	CCDS3788.1			967/1362										0	c.(967-969)GAT>AAT			Superfamily_domains:SSF56496,SMART_domains:SM00186,Pfam_domain:PF00147,Gene3D:3.90.215.10,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF22,PROSITE_profiles:PS51406,Low_complexity_(Seg):seg	fibrinogen, gamma chain isoform gamma-B	Sucralfate(DB00364)			ENSP00000336829		9-Aug									COSM2156678	9-Aug	.		ENST00000336098	Transcript	1		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	ENSG00000171557	g.chr4:155528019C>T	3694			MODERATE		2.485	medium	getma.org/?cm=msa&ty=f&p=FIBG_HUMAN&rb=175&re=415&var=D323N	getma.org/pdb.php?prot=FIBG_HUMAN&from=175&to=415&var=D323N	getma.org/?cm=var&var=hg19,4,155528019,C,T&fts=all	D323N	--	--	1																																		FGG_uc003iog.2_Missense_Mutation_p.D323N|FGG_uc003ioh.2_Missense_Mutation_p.D331N|FGG_uc010ipx.2_Missense_Mutation_p.D151N|FGG_uc010ipy.2_Missense_Mutation_p.D34N|FGG_uc003ioi.2_Missense_Mutation_p.D34N|FGG_uc003iok.2_Missense_Mutation_p.D331N	1	1		probably_damaging(0.95)	p.D323N	NM_021870	NP_068656		tolerated(0.08)	1	FIBG_HUMAN	FGG	HGNC	P02679	FIBG_HUMAN			C9JU00_HUMAN,C9JPQ9_HUMAN		8	1108	-	all_hematologic(180;0.215)	Renal(120;0.0458)	UPI000012A78D	323			Fibrinogen C-terminal.		SNV	FGG,missense_variant,p.Asp323Asn,ENST00000404648,NM_000509.4;FGG,missense_variant,p.Asp323Asn,ENST00000336098,NM_021870.2;FGG,missense_variant,p.Asp331Asn,ENST00000407946,;FGG,missense_variant,p.Asp331Asn,ENST00000405164,;FGG,downstream_gene_variant,,ENST00000443553,;FGG,downstream_gene_variant,,ENST00000393846,;FGG,non_coding_transcript_exon_variant,,ENST00000492082,;FGG,non_coding_transcript_exon_variant,,ENST00000465913,;FGG,downstream_gene_variant,,ENST00000473393,;FGG,downstream_gene_variant,,ENST00000465336,;FGG,downstream_gene_variant,,ENST00000464532,;	uc003ioj.2	c.967G>A	1006/1659	1	1			c.967G>A						4	SNP	c.(967-969)GAT>AAT	3	3				0	Broad	fibrinogen, gamma chain isoform gamma-B		Sucralfate(DB00364)	155528019		0.468	ENSG00000171557	5768	g.chr4:155528019C>T	platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding							127.989958	KEEP	29	19	-1	44	63	29	19	-1	131.801795	44	63	0.320896	1	0	0	0	0	1	0	0	0	--	--		0	T			FGG_uc003iog.2_Missense_Mutation_p.D323N|FGG_uc003ioh.2_Missense_Mutation_p.D331N|FGG_uc010ipx.2_Missense_Mutation_p.D151N|FGG_uc010ipy.2_Missense_Mutation_p.D34N|FGG_uc003ioi.2_Missense_Mutation_p.D34N|FGG_uc003iok.2_Missense_Mutation_p.D331N	172	GBM-19-5952-TP	p.D323N	C	CTAGGATCATCGCCAAAATCA	NM_021870	NP_068656	155528019	P02679	FIBG_HUMAN	0			8	1108	-	T	T	all_hematologic(180;0.215)	Renal(120;0.0458)	Missense_Mutation	323			Fibrinogen C-terminal.			
FGG	0	broad.mit.edu	GRCh37	4	155529787	155529787	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336098.3:c.682G>A	p.Val228Ile	p.V228I	ENST00000336098	NM_021870.2	228	Gta/Ata	0			1			T	V/I	uc003ioj.2	protein_coding	YES	CCDS3788.1			682/1362										0	c.(682-684)GTA>ATA			Superfamily_domains:SSF56496,SMART_domains:SM00186,Pfam_domain:PF00147,Gene3D:3.90.215.10,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF22,PROSITE_profiles:PS51406	fibrinogen, gamma chain isoform gamma-B	Sucralfate(DB00364)			ENSP00000336829		9-Jul									COSM3409118	9-Jul	.		ENST00000336098	Transcript	1		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	ENSG00000171557	g.chr4:155529787C>T	3694			MODERATE		2.235	medium	getma.org/?cm=msa&ty=f&p=FIBG_HUMAN&rb=175&re=415&var=V228I	getma.org/pdb.php?prot=FIBG_HUMAN&from=175&to=415&var=V228I	getma.org/?cm=var&var=hg19,4,155529787,C,T&fts=all	V228I	--	--	1																																		FGG_uc003iog.2_Missense_Mutation_p.V228I|FGG_uc003ioh.2_Missense_Mutation_p.V236I|FGG_uc010ipx.2_Missense_Mutation_p.V56I|FGG_uc010ipy.2_5'UTR|FGG_uc003ioi.2_5'UTR|FGG_uc003iok.2_Missense_Mutation_p.V236I	1	1		benign(0.096)	p.V228I	NM_021870	NP_068656		tolerated(0.06)	1	FIBG_HUMAN	FGG	HGNC	P02679	FIBG_HUMAN			C9JU00_HUMAN,C9JPQ9_HUMAN		7	823	-	all_hematologic(180;0.215)	Renal(120;0.0458)	UPI000012A78D	228			Fibrinogen C-terminal.		SNV	FGG,missense_variant,p.Val228Ile,ENST00000404648,NM_000509.4;FGG,missense_variant,p.Val228Ile,ENST00000336098,NM_021870.2;FGG,missense_variant,p.Val236Ile,ENST00000407946,;FGG,missense_variant,p.Val236Ile,ENST00000405164,;FGG,downstream_gene_variant,,ENST00000443553,;FGG,downstream_gene_variant,,ENST00000393846,;FGG,non_coding_transcript_exon_variant,,ENST00000492082,;FGG,non_coding_transcript_exon_variant,,ENST00000465913,;FGG,downstream_gene_variant,,ENST00000473393,;FGG,downstream_gene_variant,,ENST00000465336,;FGG,downstream_gene_variant,,ENST00000464532,;FGG,downstream_gene_variant,,ENST00000484695,;	uc003ioj.2	c.682G>A	721/1659	2	2			c.682G>A						4	SNP	c.(682-684)GTA>ATA	29	29				0	Broad	fibrinogen, gamma chain isoform gamma-B		Sucralfate(DB00364)	155529787		0.343	ENSG00000171557	5768	g.chr4:155529787C>T	platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding							101.950354	KEEP	21	21	-1	48	55	21	21	-1	106.959133	48	55	0.296296	1	0	0	0	0	1	0	0	0	--	--		0	T			FGG_uc003iog.2_Missense_Mutation_p.V228I|FGG_uc003ioh.2_Missense_Mutation_p.V236I|FGG_uc010ipx.2_Missense_Mutation_p.V56I|FGG_uc010ipy.2_5'UTR|FGG_uc003ioi.2_5'UTR|FGG_uc003iok.2_Missense_Mutation_p.V236I	269	GBM-76-4929-TP	p.V228I	C	TTGAAATCTACACTGCCATCA	NM_021870	NP_068656	155529787	P02679	FIBG_HUMAN	0			7	823	-	T	T	all_hematologic(180;0.215)	Renal(120;0.0458)	Missense_Mutation	228			Fibrinogen C-terminal.			
FGG	2266		GRCh37	4	155533209	155533209	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000336098.3:c.268A>G	p.Ile90Val	p.I90V	ENST00000336098	NM_021870.2	90	Atc/Gtc	0																																																																																																																																																																																																																																												
FGL1	2267	broad.mit.edu	GRCh37	8	17726189	17726189	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01	TCGA-06-0155-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398056.2:c.647C>T	p.Ala216Val	p.A216V	ENST00000398056		216	gCg/gTg	0			1			A	A/V	uc003wxx.2	protein_coding		CCDS6004.1			647/939										0	c.(646-648)GCG>GTG			PROSITE_profiles:PS51406,hmmpanther:PTHR19143,Pfam_domain:PF00147,Gene3D:3.90.215.10,SMART_domains:SM00186,Superfamily_domains:SSF56496	fibrinogen-like 1 precursor				ENSP00000371262		8-Jul	2.47E-05					1.50E-05		0.000121	rs766665979,COSM3412895	8-Jul	.		ENST00000381840	Transcript			signal transduction	fibrinogen complex	receptor binding	ENSG00000104760	g.chr8:17726189G>A	3695			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=FGL1_HUMAN&rb=79&re=305&var=A216V	getma.org/pdb.php?prot=FGL1_HUMAN&from=79&to=305&var=A216V	getma.org/?cm=var&var=hg19,8,17726189,G,A&fts=all	A216V	--	--	1																																		FGL1_uc003wxy.2_Missense_Mutation_p.A216V|FGL1_uc003wxz.2_Missense_Mutation_p.A215V|FGL1_uc003wya.2_Missense_Mutation_p.A216V|FGL1_uc003wyb.2_Missense_Mutation_p.A216V|FGL1_uc003wyc.2_Missense_Mutation_p.A216V|FGL1_uc003wyd.2_RNA|FGL1_uc003wye.2_Missense_Mutation_p.A266V|FGL1_uc003wyf.2_Missense_Mutation_p.A186V	0,1			benign(0.342)	p.A216V	NM_201553	NP_963847		tolerated(0.11)	0,1	FGL1_HUMAN	FGL1	HGNC	Q08830	FGL1_HUMAN		Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)			8	971	-			UPI0000169E8B	216			Fibrinogen C-terminal.		SNV	FGL1,missense_variant,p.Ala216Val,ENST00000398056,;FGL1,missense_variant,p.Ala216Val,ENST00000398054,NM_201553.1;FGL1,missense_variant,p.Ala216Val,ENST00000381841,NM_201552.1;FGL1,missense_variant,p.Ala216Val,ENST00000522444,;FGL1,missense_variant,p.Ala216Val,ENST00000381840,NM_147203.2;FGL1,missense_variant,p.Ala216Val,ENST00000427924,NM_004467.3;FGL1,missense_variant,p.Ala216Val,ENST00000518650,;FGL1,non_coding_transcript_exon_variant,,ENST00000523097,;FGL1,non_coding_transcript_exon_variant,,ENST00000522636,;	uc003wxx.2	c.647C>T	844/1335	2	2			c.647C>T						8	SNP	c.(646-648)GCG>GTG	33	33				0	Broad	fibrinogen-like 1 precursor			17726189		0.453	ENSG00000104760	5770	g.chr8:17726189G>A	signal transduction	fibrinogen complex	receptor binding							-11.703366	KEEP	6	9	-1	96	120	6	9	-1	29.42859	96	120	0.066351	1	0	0	0	0	1	0	0	0	--	--		0	A			FGL1_uc003wxy.2_Missense_Mutation_p.A216V|FGL1_uc003wxz.2_Missense_Mutation_p.A215V|FGL1_uc003wya.2_Missense_Mutation_p.A216V|FGL1_uc003wyb.2_Missense_Mutation_p.A216V|FGL1_uc003wyc.2_Missense_Mutation_p.A216V|FGL1_uc003wyd.2_RNA|FGL1_uc003wye.2_Missense_Mutation_p.A266V|FGL1_uc003wyf.2_Missense_Mutation_p.A186V	27	GBM-06-0155-TP	p.A216V	G	AAAATTCCCCGCAAGGGAATC	NM_201553	NP_963847	17726189	Q08830	FGL1_HUMAN	0		Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)	8	971	-	A	A			Missense_Mutation	216			Fibrinogen C-terminal.			
FGL1	0	broad.mit.edu	GRCh37	8	17726236	17726236	+	synonymous_variant	Silent	SNP	G	G	A	rs142240316		TCGA-76-4934-01	TCGA-76-4934-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381840.2:c.600C>T	p.Tyr200=	p.Y200=	ENST00000381840	NM_147203.2	200	taC/taT	0	A:0		1			A	Y	uc003wxx.2	protein_coding		CCDS6004.1			600/939										0	c.(598-600)TAC>TAT			PROSITE_profiles:PS51406,hmmpanther:PTHR19143,Pfam_domain:PF00147,Gene3D:3.90.215.10,SMART_domains:SM00186,Superfamily_domains:SSF56496	fibrinogen-like 1 precursor			A:0.0001	ENSP00000371262		8-Jul	3.29E-05		0.000174			3.06E-05			rs142240316,COSM281159	8-Jul	.		ENST00000381840	Transcript			signal transduction	fibrinogen complex	receptor binding	ENSG00000104760	g.chr8:17726236G>A	3695			LOW								--	--	1																																		FGL1_uc003wxy.2_Silent_p.Y200Y|FGL1_uc003wxz.2_Silent_p.Y199Y|FGL1_uc003wya.2_Silent_p.Y200Y|FGL1_uc003wyb.2_Silent_p.Y200Y|FGL1_uc003wyc.2_Silent_p.Y200Y|FGL1_uc003wyd.2_RNA|FGL1_uc003wye.2_Silent_p.Y250Y|FGL1_uc003wyf.2_Silent_p.Y170Y	0,1				p.Y200Y	NM_201553	NP_963847			0,1	FGL1_HUMAN	FGL1	HGNC	Q08830	FGL1_HUMAN		Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)			8	924	-			UPI0000169E8B	200			Fibrinogen C-terminal.		SNV	FGL1,synonymous_variant,p.=,ENST00000398056,;FGL1,synonymous_variant,p.=,ENST00000398054,NM_201553.1;FGL1,synonymous_variant,p.=,ENST00000381841,NM_201552.1;FGL1,synonymous_variant,p.=,ENST00000522444,;FGL1,synonymous_variant,p.=,ENST00000381840,NM_147203.2;FGL1,synonymous_variant,p.=,ENST00000427924,NM_004467.3;FGL1,synonymous_variant,p.=,ENST00000518650,;FGL1,non_coding_transcript_exon_variant,,ENST00000523097,;FGL1,non_coding_transcript_exon_variant,,ENST00000522636,;	uc003wxx.2	c.600C>T	797/1335	2	2			c.600C>T						8	SNP	c.(598-600)TAC>TAT	35	35				0	Broad	fibrinogen-like 1 precursor			17726236		0.383	ENSG00000104760	5770	g.chr8:17726236G>A	signal transduction	fibrinogen complex	receptor binding							70.242301	KEEP	13	15	-1	39	47	13	15	-1	76.607896	39	47	0.25	1	0	0	0	0	0	0	1	0	--	--		0	A			FGL1_uc003wxy.2_Silent_p.Y200Y|FGL1_uc003wxz.2_Silent_p.Y199Y|FGL1_uc003wya.2_Silent_p.Y200Y|FGL1_uc003wyb.2_Silent_p.Y200Y|FGL1_uc003wyc.2_Silent_p.Y200Y|FGL1_uc003wyd.2_RNA|FGL1_uc003wye.2_Silent_p.Y250Y|FGL1_uc003wyf.2_Silent_p.Y170Y	272	GBM-76-4934-TP	p.Y200Y	G	TATTCAACTCGTAGAAATTCT	NM_201553	NP_963847	17726236	Q08830	FGL1_HUMAN	0		Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)	8	924	-	A	A			Silent	200			Fibrinogen C-terminal.			
FHDC1	85462	broad.mit.edu	GRCh37	4	153881733	153881733	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149221149		TCGA-06-0876-01	TCGA-06-0876-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000511601.1:c.680C>T	p.Ala227Val	p.A227V	ENST00000511601		227	gCg/gTg	0	T:0		1			T	A/V	uc003inf.2	protein_coding		CCDS34081.1			680/3432									large_intestine(1)|ovary(1)	2	c.(679-681)GCG>GTG			PROSITE_profiles:PS51444,hmmpanther:PTHR23213:SF194,hmmpanther:PTHR23213,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447	FH2 domain containing 1			T:0.0002	ENSP00000260008		11-Apr	6.59E-05		0.000259			4.50E-05		0.000121	rs149221149,COSM2152056	11-Apr	.		ENST00000260008	Transcript			actin cytoskeleton organization		actin binding	ENSG00000137460	g.chr4:153881733C>T	29363			MODERATE		2.465	medium	getma.org/?cm=msa&ty=f&p=FHDC1_HUMAN&rb=88&re=457&var=A227V	getma.org/pdb.php?prot=FHDC1_HUMAN&from=88&to=457&var=A227V	getma.org/?cm=var&var=hg19,4,153881733,C,T&fts=all	A227V	--	--	1																																			0,1			possibly_damaging(0.7)	p.A227V	NM_033393	NP_203751		deleterious(0.04)	0,1	FHDC1_HUMAN	FHDC1	HGNC	Q9C0D6	FHDC1_HUMAN					4	755	+	all_hematologic(180;0.093)		UPI00001D7673	227			FH2.		SNV	FHDC1,missense_variant,p.Ala227Val,ENST00000511601,;FHDC1,missense_variant,p.Ala227Val,ENST00000260008,NM_033393.2;	uc003inf.2	c.680C>T	755/6480	2	2			c.680C>T						4	SNP	c.(679-681)GCG>GTG	17	17			large_intestine(1)|ovary(1)	2	Broad	FH2 domain containing 1			153881733		0.363	ENSG00000137460	5774	g.chr4:153881733C>T	actin cytoskeleton organization		actin binding							143.356887	KEEP	38	17	-1	59	9	38	17	-1	143.68901	59	9	0.441441	1	0	0	0	0	1	0	0	0	--	--		0	T				72	GBM-06-0876-TP	p.A227V	C	AAGTTAAAAGCGTTTAGTGGC	NM_033393	NP_203751	153881733	Q9C0D6	FHDC1_HUMAN	0			4	755	+	T	T	all_hematologic(180;0.093)		Missense_Mutation	227			FH2.			
FHDC1	0	broad.mit.edu	GRCh37	4	153897835	153897835	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0786-01	TCGA-14-0786-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260008.3:c.3392G>A	p.Arg1131Gln	p.R1131Q	ENST00000260008	NM_033393.2	1131	cGg/cAg	0			1			A	R/Q	uc003inf.2	protein_coding		CCDS34081.1			3392/3432									large_intestine(1)|ovary(1)	2	c.(3391-3393)CGG>CAG				FH2 domain containing 1				ENSP00000260008		11-Nov									COSM3409095	11-Nov	.		ENST00000260008	Transcript			actin cytoskeleton organization		actin binding	ENSG00000137460	g.chr4:153897835G>A	29363			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=FHDC1_HUMAN&rb=839&re=1141&var=R1131Q	NA	getma.org/?cm=var&var=hg19,4,153897835,G,A&fts=all	R1131Q	--	--	1																																			1			benign(0.027)	p.R1131Q	NM_033393	NP_203751		tolerated(0.24)	1	FHDC1_HUMAN	FHDC1	HGNC	Q9C0D6	FHDC1_HUMAN					11	3467	+	all_hematologic(180;0.093)		UPI00001D7673	1131					SNV	FHDC1,missense_variant,p.Arg1131Gln,ENST00000511601,;FHDC1,missense_variant,p.Arg1131Gln,ENST00000260008,NM_033393.2;	uc003inf.2	c.3392G>A	3467/6480	2	2			c.3392G>A						4	SNP	c.(3391-3393)CGG>CAG	36	36			large_intestine(1)|ovary(1)	2	Broad	FH2 domain containing 1			153897835		0.637	ENSG00000137460	5774	g.chr4:153897835G>A	actin cytoskeleton organization		actin binding							13.399926	KEEP	2	2	-1	3	3	2	2	-1	13.423936	3	3	0.444444	1	0	0	0	0	1	0	0	0	--	--		0	A				134	GBM-14-0786-TP	p.R1131Q	G	GACTCCAGTCGGACCACGCTG	NM_033393	NP_203751	153897835	Q9C0D6	FHDC1_HUMAN	0			11	3467	+	A	A	all_hematologic(180;0.093)		Missense_Mutation	1131						
FHDC1	0	broad.mit.edu	GRCh37	4	153897134	153897134	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-32-1986-01	TCGA-32-1986-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260008.3:c.2691A>G	p.Ser897=	p.S897=	ENST00000260008	NM_033393.2	897	tcA/tcG	0			1			G	S	uc003inf.2	protein_coding		CCDS34081.1			2691/3432									large_intestine(1)|ovary(1)	2	c.(2689-2691)TCA>TCG			hmmpanther:PTHR23213:SF194,hmmpanther:PTHR23213	FH2 domain containing 1				ENSP00000260008		11-Nov									COSM3409094	11-Nov	.		ENST00000260008	Transcript			actin cytoskeleton organization		actin binding	ENSG00000137460	g.chr4:153897134A>G	29363			LOW								--	--	1																																			1				p.S897S	NM_033393	NP_203751			1	FHDC1_HUMAN	FHDC1	HGNC	Q9C0D6	FHDC1_HUMAN					11	2766	+	all_hematologic(180;0.093)		UPI00001D7673	897					SNV	FHDC1,synonymous_variant,p.=,ENST00000511601,;FHDC1,synonymous_variant,p.=,ENST00000260008,NM_033393.2;	uc003inf.2	c.2691A>G	2766/6480	4	4			c.2691A>G						4	SNP	c.(2689-2691)TCA>TCG	20	20			large_intestine(1)|ovary(1)	2	Broad	FH2 domain containing 1			153897134		0.692	ENSG00000137460	5774	g.chr4:153897134A>G	actin cytoskeleton organization		actin binding							56.165964	KEEP	5	18	-1	30	31	5	18	-1	58.314876	30	31	0.307692	1	0	0	0	0	0	0	1	0	--	--		0	G				233	GBM-32-1986-TP	p.S897S	A	TGACCGCCTCAGAGAACGAGA	NM_033393	NP_203751	153897134	Q9C0D6	FHDC1_HUMAN	0			11	2766	+	G	G	all_hematologic(180;0.093)		Silent	897						
FHDC1	85462		GRCh37	4	153881743	153881743	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000511601.1:c.690C>T	p.Gly230=	p.G230=	ENST00000511601		230	ggC/ggT	0																																																																																																																																																																																																																																												
FHL3	2275	broad.mit.edu	GRCh37	1	38463709	38463709	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0132-01	TCGA-06-0132-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373016.3:c.427C>T	p.Pro143Ser	p.P143S	ENST00000373016	NM_001243878.1	143	Ccc/Tcc	0			1			A	P/S	uc001ccj.2	protein_coding	YES	CCDS30678.1			427/843										0	c.(427-429)CCC>TCC			Gene3D:2.10.110.10,Pfam_domain:PF00412,PROSITE_profiles:PS50023,hmmpanther:PTHR24205,hmmpanther:PTHR24205:SF5,SMART_domains:SM00132,Superfamily_domains:SSF57716	four and a half LIM domains 3				ENSP00000362107		6-Apr									COSM535000	6-Apr	.		ENST00000373016	Transcript			muscle organ development		zinc ion binding	ENSG00000183386	g.chr1:38463709G>A	3704			MODERATE		0.57	neutral	getma.org/?cm=msa&ty=f&p=FHL3_HUMAN&rb=101&re=158&var=P143S	getma.org/pdb.php?prot=FHL3_HUMAN&from=101&to=158&var=P143S	getma.org/?cm=var&var=hg19,1,38463709,G,A&fts=all	P143S	--	--	1																																		FHL3_uc001cck.2_Missense_Mutation_p.P143S|FHL3_uc001ccl.2_Missense_Mutation_p.P143S|FHL3_uc001ccm.2_Missense_Mutation_p.P35S|FHL3_uc009vvl.1_Missense_Mutation_p.P143S	1	1		probably_damaging(1)	p.P143S	NM_004468	NP_004459		tolerated(0.21)	1	FHL3_HUMAN	FHL3	HGNC	Q13643	FHL3_HUMAN			Q96C98_HUMAN		4	514	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	UPI0000070486	143			LIM zinc-binding 2.		SNV	FHL3,missense_variant,p.Pro143Ser,ENST00000373016,NM_001243878.1,NM_004468.4;FHL3,non_coding_transcript_exon_variant,,ENST00000485803,;FHL3,non_coding_transcript_exon_variant,,ENST00000477194,;FHL3,intron_variant,,ENST00000475084,;FHL3,downstream_gene_variant,,ENST00000483132,;	uc001ccj.2	c.427C>T	596/1647	2	2			c.427C>T						1	SNP	c.(427-429)CCC>TCC	48	48				0	Broad	four and a half LIM domains 3			38463709		0.622	ENSG00000183386	5778	g.chr1:38463709G>A	muscle organ development		zinc ion binding							-29.296403	KEEP	1	5	-1	123	127	1	5	-1	10.517045	123	127	0.035294	1	0	0	0	0	1	0	0	0	--	--		0	A			FHL3_uc001cck.2_Missense_Mutation_p.P143S|FHL3_uc001ccl.2_Missense_Mutation_p.P143S|FHL3_uc001ccm.2_Missense_Mutation_p.P35S|FHL3_uc009vvl.1_Missense_Mutation_p.P143S	17	GBM-06-0132-TP	p.P143S	G	CCCTTGTCGGGCACAAAAGAA	NM_004468	NP_004459	38463709	Q13643	FHL3_HUMAN	0			4	514	-	A	A	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	Missense_Mutation	143			LIM zinc-binding 2.			
FHL3	0	broad.mit.edu	GRCh37	1	38464646	38464646	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-2575-01	TCGA-41-2575-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373016.3:c.331G>A	p.Gly111Arg	p.G111R	ENST00000373016	NM_001243878.1	111	Ggg/Agg	0			1			T	G/R	uc001ccj.2	protein_coding	YES	CCDS30678.1			331/843										0	c.(331-333)GGG>AGG			Gene3D:2.10.110.10,Pfam_domain:PF00412,PROSITE_patterns:PS00478,PROSITE_profiles:PS50023,hmmpanther:PTHR24205,hmmpanther:PTHR24205:SF5,SMART_domains:SM00132,Superfamily_domains:SSF57716	four and a half LIM domains 3				ENSP00000362107		6-Mar									COSM3400748	6-Mar	.		ENST00000373016	Transcript			muscle organ development		zinc ion binding	ENSG00000183386	g.chr1:38464646C>T	3704			MODERATE		3.205	medium	getma.org/?cm=msa&ty=f&p=FHL3_HUMAN&rb=101&re=158&var=G111R	getma.org/pdb.php?prot=FHL3_HUMAN&from=101&to=158&var=G111R	getma.org/?cm=var&var=hg19,1,38464646,C,T&fts=all	G111R	--	--	1																																		FHL3_uc001cck.2_Missense_Mutation_p.G111R|FHL3_uc001ccl.2_Missense_Mutation_p.G111R|FHL3_uc001ccm.2_Missense_Mutation_p.G3R|FHL3_uc009vvl.1_Missense_Mutation_p.G111R	1	1		probably_damaging(0.977)	p.G111R	NM_004468	NP_004459		deleterious(0)	1	FHL3_HUMAN	FHL3	HGNC	Q13643	FHL3_HUMAN			Q96C98_HUMAN		3	418	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	UPI0000070486	111			LIM zinc-binding 2.		SNV	FHL3,missense_variant,p.Gly111Arg,ENST00000373016,NM_001243878.1,NM_004468.4;FHL3,splice_region_variant,,ENST00000485803,;FHL3,splice_region_variant,,ENST00000477194,;FHL3,splice_region_variant,,ENST00000475084,;FHL3,non_coding_transcript_exon_variant,,ENST00000483132,;	uc001ccj.2	c.331G>A	500/1647	2	2			c.331G>A						1	SNP	c.(331-333)GGG>AGG	39	39				0	Broad	four and a half LIM domains 3			38464646		0.527	ENSG00000183386	5778	g.chr1:38464646C>T	muscle organ development		zinc ion binding							83.556082	KEEP	14	16	-1	45	37	14	16	-1	88.066634	45	37	0.277228	1	0	0	0	0	1	0	0	0	--	--		0	T			FHL3_uc001cck.2_Missense_Mutation_p.G111R|FHL3_uc001ccl.2_Missense_Mutation_p.G111R|FHL3_uc001ccm.2_Missense_Mutation_p.G3R|FHL3_uc009vvl.1_Missense_Mutation_p.G111R	253	GBM-41-2575-TP	p.G111R	C	GAACACATACCAGGCATGACA	NM_004468	NP_004459	38464646	Q13643	FHL3_HUMAN	0			3	418	-	T	T	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	Missense_Mutation	111			LIM zinc-binding 2.			
FHOD3	80206	broad.mit.edu	GRCh37	18	34261459	34261460	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	-			TCGA-06-0169-01	TCGA-06-0169-01	AG	AG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257209.4:c.1381_1382del	p.Arg461AlafsTer48	p.R461Afs*48	ENST00000257209	NM_025135.2	457	gcAGag/gcag	0			1			-	AE/AX	uc002kzt.1	protein_coding		CCDS62419.1			1371-1372/4269									skin(3)|large_intestine(2)|breast(2)|ovary(1)	8	c.(1369-1374)GCAGAGfs			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF213	formin homology 2 domain containing 3				ENSP00000352186		24-Dec									rs144071785,COSM1388607	24-Dec	.		ENST00000359247	Transcript			actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	ENSG00000134775	g.chr18:34261459_34261460delAG	26178	10		HIGH								--	--	1																																		FHOD3_uc002kzr.1_Frame_Shift_Del_p.A457fs|FHOD3_uc002kzs.1_Frame_Shift_Del_p.A457fs|FHOD3_uc010dmz.1_Frame_Shift_Del_p.A172fs	0,1				p.A457fs	NM_025135	NP_079411			0,1	FHOD3_HUMAN	FHOD3	HGNC	Q2V2M9	FHOD3_HUMAN					12	1468_1469	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	UPI0000EE543D	457_458			Potential.		deletion	FHOD3,frameshift_variant,p.Arg461AlafsTer48,ENST00000257209,NM_025135.2;FHOD3,frameshift_variant,p.Arg636AlafsTer48,ENST00000590592,NM_001281740.1;FHOD3,frameshift_variant,p.Arg423AlafsTer48,ENST00000445677,;FHOD3,frameshift_variant,p.Arg461AlafsTer31,ENST00000359247,NM_001281739.1;FHOD3,frameshift_variant,p.Arg222AlafsTer48,ENST00000592930,;FHOD3,intron_variant,,ENST00000591635,;FHOD3,non_coding_transcript_exon_variant,,ENST00000589114,;	uc002kzt.1	c.1371_1372delAG	1371-1372/4518	5	5			c.1371_1372delAG						18	DEL	c.(1369-1374)GCAGAGfs	26	26			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8	Broad	formin homology 2 domain containing 3			34261460		0.46	ENSG00000134775	5781	g.chr18:34261459_34261460delAG	actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding																				0.07	1	1	0	1	0	0	0	0	0	--	--		0	-			FHOD3_uc002kzr.1_Frame_Shift_Del_p.A457fs|FHOD3_uc002kzs.1_Frame_Shift_Del_p.A457fs|FHOD3_uc010dmz.1_Frame_Shift_Del_p.A172fs	34	GBM-06-0169-TP	p.A457fs	AG	CACTGGCAGCAGAGAGAGAGAG	NM_025135	NP_079411	34261459	Q2V2M9	FHOD3_HUMAN	0			12	1468_1469	+	-	-		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	Frame_Shift_Del	457_458			Potential.			
FIBP	9158	broad.mit.edu	GRCh37	11	65655866	65655866	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338369.2:c.24C>T	p.Phe8=	p.F8=	ENST00000338369	NM_198897.1	8	ttC/ttT	0			1			A	F	uc001ogd.2	protein_coding	YES	CCDS8119.1			24/1095									ovary(1)	1	c.(22-24)TTC>TTT			Pfam_domain:PF05427,hmmpanther:PTHR13223,hmmpanther:PTHR13223:SF2	FGF intracellular binding protein isoform a				ENSP00000344572		10-Jan	1.70E-05	0.000677							rs746399361,COSM3398052	10-Jan	common_variant		ENST00000338369	Transcript			fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding	ENSG00000172500	g.chr11:65655866G>A	3705			LOW								--	--	1																																OREG0021090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	FIBP_uc009yqu.2_Silent_p.F8F|FIBP_uc001oge.2_Silent_p.F8F|FIBP_uc010roq.1_Silent_p.F8F|FIBP_uc010ror.1_Silent_p.F8F|CCDC85B_uc001ogf.2_5'Flank	0,1	1			p.F8F	NM_198897	NP_942600			0,1	FIBP_HUMAN	FIBP	HGNC	O43427	FIBP_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	B4DKH9_HUMAN		1	145	-			UPI000012A79E	8					SNV	FIBP,synonymous_variant,p.=,ENST00000338369,NM_198897.1;FIBP,synonymous_variant,p.=,ENST00000357519,NM_004214.4;FIBP,synonymous_variant,p.=,ENST00000533045,;FOSL1,downstream_gene_variant,,ENST00000312562,NM_005438.3;FOSL1,downstream_gene_variant,,ENST00000448083,;CTSW,downstream_gene_variant,,ENST00000528419,;CTSW,downstream_gene_variant,,ENST00000307886,NM_001335.3;CCDC85B,upstream_gene_variant,,ENST00000312579,NM_006848.2;FOSL1,downstream_gene_variant,,ENST00000531493,;FOSL1,downstream_gene_variant,,ENST00000532401,;FOSL1,downstream_gene_variant,,ENST00000534222,;FIBP,non_coding_transcript_exon_variant,,ENST00000426652,;FIBP,synonymous_variant,p.=,ENST00000533037,;FIBP,synonymous_variant,p.=,ENST00000532229,;FIBP,non_coding_transcript_exon_variant,,ENST00000528937,;FIBP,non_coding_transcript_exon_variant,,ENST00000532679,;FIBP,non_coding_transcript_exon_variant,,ENST00000442885,;FIBP,upstream_gene_variant,,ENST00000534032,;FIBP,upstream_gene_variant,,ENST00000531115,;FIBP,upstream_gene_variant,,ENST00000525765,;FIBP,upstream_gene_variant,,ENST00000532934,;	uc001ogd.2	c.24C>T	137/1261	1	1			c.24C>T						11	SNP	c.(22-24)TTC>TTT	54	54			ovary(1)	1	Broad	FGF intracellular binding protein isoform a			65655866		0.682	ENSG00000172500	5784	g.chr11:65655866G>A	fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding							13.408064	KEEP	1	3	-1	0	2	1	3	-1	13.82124	0	2	0.8	1	0	0	0	0	0	0	1	0	--	--		0	A	OREG0021090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	FIBP_uc009yqu.2_Silent_p.F8F|FIBP_uc001oge.2_Silent_p.F8F|FIBP_uc010roq.1_Silent_p.F8F|FIBP_uc010ror.1_Silent_p.F8F|CCDC85B_uc001ogf.2_5'Flank	8	GBM-02-2486-TP	p.F8F	G	TGTTCCCCACGAAGATGTCCA	NM_198897	NP_942600	65655866	O43427	FIBP_HUMAN	0		READ - Rectum adenocarcinoma(159;0.166)	1	145	-	A	A			Silent	8						
FIGF	0	broad.mit.edu	GRCh37	X	15364311	15364311	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01	TCGA-06-0939-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297904.3:c.1009C>T	p.Arg337Cys	p.R337C	ENST00000297904	NM_004469.4	337	Cgc/Tgc	0			1			A	R/C	uc004cwt.1	protein_coding	YES	CCDS14166.1			1009/1065									ovary(1)|breast(1)|central_nervous_system(1)	3	c.(1009-1011)CGC>TGC			hmmpanther:PTHR12025,hmmpanther:PTHR12025:SF11	vascular endothelial growth factor D				ENSP00000297904		7-Jul	8.24E-06					2.09E-05			rs766709138,COSM2152417	7-Jul	.		ENST00000297904	Transcript			angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding	ENSG00000165197	g.chrX:15364311G>A	3708			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=VEGFD_HUMAN&rb=192&re=354&var=R337C	NA	getma.org/?cm=var&var=hg19,X,15364311,G,A&fts=all	R337C	--	--	1																																			0,1	1		benign(0.016)	p.R337C	NM_004469	NP_004460		deleterious(0.05)	0,1	VEGFD_HUMAN	FIGF	HGNC	O43915	VEGFD_HUMAN					7	1518	-	Hepatocellular(33;0.183)		UPI00000012B2	337					SNV	FIGF,missense_variant,p.Arg337Cys,ENST00000297904,NM_004469.4;FIGF,non_coding_transcript_exon_variant,,ENST00000488351,;	uc004cwt.1	c.1009C>T	1439/2037	2	2			c.1009C>T						23	SNP	c.(1009-1011)CGC>TGC	20	20			ovary(1)|breast(1)|central_nervous_system(1)	3	Broad	vascular endothelial growth factor D			15364311		0.478	ENSG00000165197	5787	g.chrX:15364311G>A	angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			167			167	142.021947	KEEP	27	25	-1	57	72	27	25	-1	147.860516	57	72	0.301205	1	0	0	0	0	1	0	0	0	--	--		0	A				78	GBM-06-0939-TP	p.R337C	G	TTTGGAAAGCGGCAATGCTTT	NM_004469	NP_004460	15364311	O43915	VEGFD_HUMAN	0			7	1518	-	A	A	Hepatocellular(33;0.183)		Missense_Mutation	337						
FIGF	0	broad.mit.edu	GRCh37	X	15381369	15381369	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-12-3650-01	TCGA-12-3650-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297904.3:c.163C>T	p.Arg55Ter	p.R55*	ENST00000297904	NM_004469.4	55	Cga/Tga	0			1			A	R/*	uc004cwt.1	protein_coding	YES	CCDS14166.1			163/1065									ovary(1)|breast(1)|central_nervous_system(1)	3	c.(163-165)CGA>TGA			hmmpanther:PTHR12025,hmmpanther:PTHR12025:SF11	vascular endothelial growth factor D				ENSP00000297904		7-Feb	2.47E-05			0.000151		2.08E-05			rs752152727,COSM1252445	7-Feb	.		ENST00000297904	Transcript			angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding	ENSG00000165197	g.chrX:15381369G>A	3708			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,X,15381369,G,A&fts=all	R55*	--	--	1																																			0,1	1			p.R55*	NM_004469	NP_004460			0,1	VEGFD_HUMAN	FIGF	HGNC	O43915	VEGFD_HUMAN					2	672	-	Hepatocellular(33;0.183)		UPI00000012B2	55					SNV	FIGF,stop_gained,p.Arg55Ter,ENST00000297904,NM_004469.4;	uc004cwt.1	c.163C>T	593/2037	5	1			c.163C>T						23	SNP	c.(163-165)CGA>TGA	59	59			ovary(1)|breast(1)|central_nervous_system(1)	3	Broad	vascular endothelial growth factor D			15381369		0.453	ENSG00000165197	5787	g.chrX:15381369G>A	angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			167			167	255.846766	KEEP	44	35	-1	2	4	44	35	-1	269.700697	2	4	0.924051	1	0	0	0	0	0	1	0	0	--	--		0	A				126	GBM-12-3650-TP	p.R55*	G	TGAGTAATTCGAAGTAGTTCC	NM_004469	NP_004460	15381369	O43915	VEGFD_HUMAN	0			2	672	-	A	A	Hepatocellular(33;0.183)		Nonsense_Mutation	55						
FIGN	0	broad.mit.edu	GRCh37	2	164466661	164466661	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0871-01	TCGA-14-0871-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333129.3:c.1681G>A	p.Gly561Arg	p.G561R	ENST00000333129	NM_018086.2	561	Gga/Aga	0	T:0.0003		1			T	G/R	uc002uck.1	protein_coding	YES	CCDS2221.2			1681/2280									large_intestine(2)|ovary(1)|skin(1)	4	c.(1681-1683)GGA>AGA			Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,Pfam_domain:PF00004,hmmpanther:PTHR23074:SF14,hmmpanther:PTHR23074	fidgetin			T:0	ENSP00000333836		3-Mar	1.65E-05	0.000204							rs367860574,COSM3406975	3-Mar	.		ENST00000333129	Transcript				nuclear matrix	ATP binding|nucleoside-triphosphatase activity	ENSG00000182263	g.chr2:164466661C>T	13285			MODERATE		3.595	high	getma.org/?cm=msa&ty=f&p=FIGN_HUMAN&rb=522&re=652&var=G561R	getma.org/pdb.php?prot=FIGN_HUMAN&from=522&to=652&var=G561R	getma.org/?cm=var&var=hg19,2,164466661,C,T&fts=all	G561R	--	--	1																																			0,1	1		possibly_damaging(0.718)	p.G561R	NM_018086	NP_060556		tolerated(0.13)	0,1	FIGN_HUMAN	FIGN	HGNC	Q5HY92	FIGN_HUMAN					3	1992	-			UPI000022BD13	561					SNV	FIGN,missense_variant,p.Gly561Arg,ENST00000333129,NM_018086.2;FIGN,intron_variant,,ENST00000409634,;FIGN,downstream_gene_variant,,ENST00000482917,;	uc002uck.1	c.1681G>A	1996/9536	1	1			c.1681G>A						2	SNP	c.(1681-1683)GGA>AGA	5	5			large_intestine(2)|ovary(1)|skin(1)	4	Broad	fidgetin			164466661		0.493	ENSG00000182263	5789	g.chr2:164466661C>T		nuclear matrix	ATP binding|nucleoside-triphosphatase activity							72.518544	KEEP	19	17	-1	80	72	19	17	-1	89.700155	80	72	0.177143	1	0	0	0	0	1	0	0	0	--	--		0	T				141	GBM-14-0871-TP	p.G561R	C	TCTGCTTCTCCTAACCACTTG	NM_018086	NP_060556	164466661	Q5HY92	FIGN_HUMAN	0			3	1992	-	T	T			Missense_Mutation	561						
FIGN	0	broad.mit.edu	GRCh37	2	164467616	164467616	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5218-01	TCGA-28-5218-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333129.3:c.726C>T	p.Leu242=	p.L242=	ENST00000333129	NM_018086.2	242	ctC/ctT	0			1			A	L	uc002uck.1	protein_coding	YES	CCDS2221.2			726/2280									large_intestine(2)|ovary(1)|skin(1)	4	c.(724-726)CTC>CTT			hmmpanther:PTHR23074:SF14,hmmpanther:PTHR23074	fidgetin				ENSP00000333836		3-Mar									COSM3406976	3-Mar	.		ENST00000333129	Transcript				nuclear matrix	ATP binding|nucleoside-triphosphatase activity	ENSG00000182263	g.chr2:164467616G>A	13285			LOW								--	--	1																																			1	1			p.L242L	NM_018086	NP_060556			1	FIGN_HUMAN	FIGN	HGNC	Q5HY92	FIGN_HUMAN					3	1037	-			UPI000022BD13	242			Pro-rich.		SNV	FIGN,synonymous_variant,p.=,ENST00000333129,NM_018086.2;FIGN,intron_variant,,ENST00000409634,;FIGN,downstream_gene_variant,,ENST00000482917,;	uc002uck.1	c.726C>T	1041/9536	2	2			c.726C>T						2	SNP	c.(724-726)CTC>CTT	24	24			large_intestine(2)|ovary(1)|skin(1)	4	Broad	fidgetin			164467616		0.612	ENSG00000182263	5789	g.chr2:164467616G>A		nuclear matrix	ATP binding|nucleoside-triphosphatase activity							113.064591	KEEP	17	21	-1	25	24	17	21	-1	113.162815	25	24	0.4625	1	0	0	0	0	0	0	1	0	--	--		0	A				224	GBM-28-5218-TP	p.L242L	G	TGTAACTGGAGAGGTTAGAAG	NM_018086	NP_060556	164467616	Q5HY92	FIGN_HUMAN	0			3	1037	-	A	A			Silent	242			Pro-rich.			
FILIP1	27145	broad.mit.edu	GRCh37	6	76024625	76024625	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0152-01	TCGA-06-0152-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000237172.7:c.923C>A	p.Ser308Ter	p.S308*	ENST00000237172	NM_015687.2	308	tCg/tAg	0			1			T	S/*	uc003pia.2	protein_coding	YES	CCDS4984.1			923/3642									skin(3)|ovary(1)	4	c.(922-924)TCG>TAG			hmmpanther:PTHR23166,hmmpanther:PTHR23166:SF3	filamin A interacting protein 1				ENSP00000237172		6-May									COSM2149886,COSM3411292	6-May	.		ENST00000237172	Transcript						ENSG00000118407	g.chr6:76024625G>T	21015			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,6,76024625,G,T&fts=all	S308*	--	--	1																																		FILIP1_uc003phy.1_Nonsense_Mutation_p.S308*|FILIP1_uc003phz.2_Nonsense_Mutation_p.S209*|FILIP1_uc010kbe.2_Nonsense_Mutation_p.S311*|FILIP1_uc003pib.1_Nonsense_Mutation_p.S60*	1,1	1			p.S308*	NM_015687	NP_056502			1,1	FLIP1_HUMAN	FILIP1	HGNC	Q7Z7B0	FLIP1_HUMAN					5	1296	-			UPI0000160071	308			Potential.		SNV	FILIP1,stop_gained,p.Ser308Ter,ENST00000393004,;FILIP1,stop_gained,p.Ser308Ter,ENST00000237172,NM_015687.2;FILIP1,stop_gained,p.Ser209Ter,ENST00000370020,;FILIP1,non_coding_transcript_exon_variant,,ENST00000498523,;HMGB1P39,downstream_gene_variant,,ENST00000366304,;	uc003pia.2	c.923C>A	1254/4580	5	2			c.923C>A						6	SNP	c.(922-924)TCG>TAG	43	43			skin(3)|ovary(1)	4	Broad	filamin A interacting protein 1			76024625		0.423	ENSG00000118407	5791	g.chr6:76024625G>T										179.635273	KEEP	38	28	0.575757576	74	60	38	28	0.575757576	183.224097	74	60	0.35	1	0	0	0	0	0	1	0	0	--	--		0	T			FILIP1_uc003phy.1_Nonsense_Mutation_p.S308*|FILIP1_uc003phz.2_Nonsense_Mutation_p.S209*|FILIP1_uc010kbe.2_Nonsense_Mutation_p.S311*|FILIP1_uc003pib.1_Nonsense_Mutation_p.S60*	25	GBM-06-0152-TP	p.S308*	G	AGAAAACCTCGAAGCCTTGTG	NM_015687	NP_056502	76024625	Q7Z7B0	FLIP1_HUMAN	0			5	1296	-	T	T			Nonsense_Mutation	308			Potential.			
FILIP1	27145	broad.mit.edu	GRCh37	6	76063397	76063397	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01	TCGA-06-0646-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000237172.7:c.487C>T	p.Arg163Trp	p.R163W	ENST00000237172	NM_015687.2	163	Cgg/Tgg	0			1			A	R/W	uc003pia.2	protein_coding	YES	CCDS4984.1			487/3642									skin(3)|ovary(1)	4	c.(487-489)CGG>TGG			Pfam_domain:PF09727,hmmpanther:PTHR23166,hmmpanther:PTHR23166:SF3	filamin A interacting protein 1				ENSP00000237172		6-Apr	0.000107				0.000908	4.50E-05		0.000242	rs759270192,COSM3175535,COSM3411293	6-Apr	common_variant		ENST00000237172	Transcript						ENSG00000118407	g.chr6:76063397G>A	21015			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=FLIP1_HUMAN&rb=65&re=257&var=R163W	NA	getma.org/?cm=var&var=hg19,6,76063397,G,A&fts=all	R163W	--	--	1																																		FILIP1_uc003phy.1_Missense_Mutation_p.R163W|FILIP1_uc003phz.2_Missense_Mutation_p.R64W|FILIP1_uc010kbe.2_Missense_Mutation_p.R166W	0,1,1	1		probably_damaging(1)	p.R163W	NM_015687	NP_056502		deleterious(0)	0,1,1	FLIP1_HUMAN	FILIP1	HGNC	Q7Z7B0	FLIP1_HUMAN					4	860	-			UPI0000160071	163					SNV	FILIP1,missense_variant,p.Arg163Trp,ENST00000393004,;FILIP1,missense_variant,p.Arg163Trp,ENST00000237172,NM_015687.2;FILIP1,missense_variant,p.Arg64Trp,ENST00000370020,;RP11-415D17.3,upstream_gene_variant,,ENST00000588761,;RP11-415D17.3,upstream_gene_variant,,ENST00000415457,;RP11-415D17.3,upstream_gene_variant,,ENST00000609544,;RP11-415D17.3,upstream_gene_variant,,ENST00000440220,;RP11-415D17.3,upstream_gene_variant,,ENST00000591821,;	uc003pia.2	c.487C>T	818/4580	2	2			c.487C>T						6	SNP	c.(487-489)CGG>TGG	42	42			skin(3)|ovary(1)	4	Broad	filamin A interacting protein 1			76063397		0.428	ENSG00000118407	5791	g.chr6:76063397G>A										-27.428635	KEEP	3	1	-1	83	72	3	1	-1	7.123392	83	72	0.028369	1	0	0	0	0	1	0	0	0	--	--		0	A			FILIP1_uc003phy.1_Missense_Mutation_p.R163W|FILIP1_uc003phz.2_Missense_Mutation_p.R64W|FILIP1_uc010kbe.2_Missense_Mutation_p.R166W	60	GBM-06-0646-TP	p.R163W	G	AGCATGCGCCGGTAGGTTTCT	NM_015687	NP_056502	76063397	Q7Z7B0	FLIP1_HUMAN	0			4	860	-	A	A			Missense_Mutation	163						
FILIP1	0	broad.mit.edu	GRCh37	6	76024397	76024397	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs147080592		TCGA-12-0821-01	TCGA-12-0821-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000237172.7:c.1151G>A	p.Arg384Gln	p.R384Q	ENST00000237172	NM_015687.2	384	cGa/cAa	0	T:0		1			T	R/Q	uc003pia.2	protein_coding	YES	CCDS4984.1			1151/3642						not_provided		p.R384Q(1)	skin(3)|ovary(1)	4	c.(1150-1152)CGA>CAA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23166,hmmpanther:PTHR23166:SF3	filamin A interacting protein 1			T:0.0001	ENSP00000237172		6-May	1.65E-05					1.50E-05		6.07E-05	TMP_ESP_6_76024397_76024397,rs147080592,COSM108231,COSM3411291	6-May	.		ENST00000237172	Transcript						ENSG00000118407	g.chr6:76024397C>T	21015			MODERATE		2.35	medium	getma.org/?cm=msa&ty=f&p=FLIP1_HUMAN&rb=258&re=457&var=R384Q	NA	getma.org/?cm=var&var=hg19,6,76024397,C,T&fts=all	R384Q	--	--	1																																		FILIP1_uc003phy.1_Missense_Mutation_p.R384Q|FILIP1_uc003phz.2_Missense_Mutation_p.R285Q|FILIP1_uc010kbe.2_Missense_Mutation_p.R387Q|FILIP1_uc003pib.1_Missense_Mutation_p.R136Q	0,1,1,1	1	21499247	possibly_damaging(0.476)	p.R384Q	NM_015687	NP_056502		deleterious(0.04)	0,1,1,1	FLIP1_HUMAN	FILIP1	HGNC	Q7Z7B0	FLIP1_HUMAN					5	1524	-			UPI0000160071	384			Potential.		SNV	FILIP1,missense_variant,p.Arg384Gln,ENST00000393004,;FILIP1,missense_variant,p.Arg384Gln,ENST00000237172,NM_015687.2;FILIP1,missense_variant,p.Arg285Gln,ENST00000370020,;FILIP1,non_coding_transcript_exon_variant,,ENST00000498523,;HMGB1P39,downstream_gene_variant,,ENST00000366304,;	uc003pia.2	c.1151G>A	1482/4580	1	1			c.1151G>A						6	SNP	c.(1150-1152)CGA>CAA	1	1		p.R384Q(1)	skin(3)|ovary(1)	4	Broad	filamin A interacting protein 1			76024397		0.418	ENSG00000118407	5791	g.chr6:76024397C>T										470.879532	KEEP	125	51	-1	191	72	125	51	-1	473.761692	191	72	0.406824	1	0	0	0	0	1	0	0	0	--	--		0	T			FILIP1_uc003phy.1_Missense_Mutation_p.R384Q|FILIP1_uc003phz.2_Missense_Mutation_p.R285Q|FILIP1_uc010kbe.2_Missense_Mutation_p.R387Q|FILIP1_uc003pib.1_Missense_Mutation_p.R136Q	123	GBM-12-0821-TP	p.R384Q	C	CACACGCTTTCGAAGATTTTC	NM_015687	NP_056502	76024397	Q7Z7B0	FLIP1_HUMAN	0			5	1524	-	T	T			Missense_Mutation	384			Potential.			
FILIP1	27145		GRCh37	6	76023523	76023523	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000237172.7:c.2025C>G	p.Asn675Lys	p.N675K	ENST00000237172	NM_015687.2	675	aaC/aaG	0																																																																																																																																																																																																																																												
FILIP1L	11259	broad.mit.edu	GRCh37	3	99568062	99568062	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354552.3:c.2458C>T	p.Arg820Cys	p.R820C	ENST00000354552	NM_182909.2	820	Cgt/Tgt	0	A:0.0003		1			A	R/C	uc003dtm.2	protein_coding	YES	CCDS43117.1			2458/3408									ovary(1)	1	c.(2458-2460)CGT>TGT			hmmpanther:PTHR23166,hmmpanther:PTHR23166:SF4	filamin A interacting protein 1-like isoform 1			A:0	ENSP00000346560		6-May	8.27E-06	0.000102							rs374898848,COSM3408935,COSM3408934	6-May	.		ENST00000354552	Transcript				cytoplasm|membrane|myosin complex|nucleus		ENSG00000168386	g.chr3:99568062G>A	24589			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=FIL1L_HUMAN&rb=650&re=849&var=R820C	NA	getma.org/?cm=var&var=hg19,3,99568062,G,A&fts=all	R820C	--	--	1																																		C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.R820C|FILIP1L_uc010hpf.2_Missense_Mutation_p.R396C|FILIP1L_uc010hpg.2_Missense_Mutation_p.R580C|FILIP1L_uc003dtn.2_Missense_Mutation_p.R580C|FILIP1L_uc003dtp.1_Missense_Mutation_p.R580C	0,1,1	1		benign(0.035)	p.R820C	NM_182909	NP_878913		deleterious(0.02)	0,1,1	FIL1L_HUMAN	FILIP1L	HGNC	Q4L180	FIL1L_HUMAN			C9JYJ6_HUMAN		5	2921	-			UPI00001B24B2	820					SNV	FILIP1L,missense_variant,p.Arg820Cys,ENST00000331335,NM_001042459.1;FILIP1L,missense_variant,p.Arg820Cys,ENST00000354552,NM_182909.2;FILIP1L,missense_variant,p.Arg580Cys,ENST00000383694,NM_014890.2;FILIP1L,missense_variant,p.Arg580Cys,ENST00000495625,;FILIP1L,missense_variant,p.Arg580Cys,ENST00000471562,NM_001282794.1;FILIP1L,missense_variant,p.Arg396Cys,ENST00000487087,NM_001282793.1;CMSS1,intron_variant,,ENST00000421999,NM_032359.3;CMSS1,intron_variant,,ENST00000463526,;FILIP1L,upstream_gene_variant,,ENST00000477258,;CMSS1,intron_variant,,ENST00000496116,;FILIP1L,intron_variant,,ENST00000476723,;CMSS1,intron_variant,,ENST00000491299,;	uc003dtm.2	c.2458C>T	2929/3970	2	2			c.2458C>T						3	SNP	c.(2458-2460)CGT>TGT	17	17			ovary(1)	1	Broad	filamin A interacting protein 1-like isoform 1			99568062		0.438	ENSG00000168386	5792	g.chr3:99568062G>A		cytoplasm|membrane|myosin complex|nucleus								313.137849	KEEP	64	51	-1	59	73	64	51	-1	313.524419	59	73	0.455357	1	0	0	0	0	1	0	0	0	--	--		0	A			C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.R820C|FILIP1L_uc010hpf.2_Missense_Mutation_p.R396C|FILIP1L_uc010hpg.2_Missense_Mutation_p.R580C|FILIP1L_uc003dtn.2_Missense_Mutation_p.R580C|FILIP1L_uc003dtp.1_Missense_Mutation_p.R580C	102	GBM-06-5858-TP	p.R820C	G	ATGACTGCACGTTCCAGAGGA	NM_182909	NP_878913	99568062	Q4L180	FIL1L_HUMAN	0			5	2921	-	A	A			Missense_Mutation	820						
FIP1L1	0	broad.mit.edu	GRCh37	4	54294195	54294195	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-4927-01	TCGA-76-4927-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337488.6:c.1019T>C	p.Val340Ala	p.V340A	ENST00000337488	NM_030917.3	340	gTc/gCc	0			1			C	V/A	uc003gzy.2	protein_coding	YES	CCDS3491.1			1019/1785	T		PDGFRA		idiopathic hypereosinophilic syndrome				ovary(1)|skin(1)	2	c.(1018-1020)GTC>GCC			hmmpanther:PTHR13484	FIP1 like 1 isoform 1				ENSP00000336752		13/18									COSM3409353,COSM3409354	13/18	.		ENST00000337488	Transcript	1		mRNA processing	nucleus	RNA binding	ENSG00000145216	g.chr4:54294195T>C	19124			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=FIP1_HUMAN&rb=198&re=397&var=V340A	NA	getma.org/?cm=var&var=hg19,4,54294195,T,C&fts=all	V340A	--	--	1																																		PDGFRA_uc003haa.2_Intron|FIP1L1_uc003gzx.3_Missense_Mutation_p.V325A|FIP1L1_uc011bzt.1_Missense_Mutation_p.V304A|FIP1L1_uc011bzu.1_Missense_Mutation_p.V325A|FIP1L1_uc003gzz.2_Missense_Mutation_p.V266A|FIP1L1_uc003hab.2_Missense_Mutation_p.V305A|FIP1L1_uc003hac.2_Missense_Mutation_p.V85A|FIP1L1_uc010ign.2_RNA|FIP1L1_uc003had.2_5'UTR|FIP1L1_uc003hae.2_5'UTR	1,1	1		benign(0.298)	p.V340A	NM_030917	NP_112179		tolerated(0.06)	1,1	FIP1_HUMAN	FIP1L1	HGNC	Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)				13	1205	+			UPI0000035FBF	340			Necessary for stimulating PAPOLA activity.	Breakpoint for interstitial deletion to form the FIP1L1-PDGFRA fusion protein.	SNV	FIP1L1,missense_variant,p.Val340Ala,ENST00000337488,NM_030917.3;FIP1L1,missense_variant,p.Val325Ala,ENST00000358575,NM_001134937.1;FIP1L1,missense_variant,p.Val266Ala,ENST00000306932,NM_001134938.1;FIP1L1,missense_variant,p.Val325Ala,ENST00000507922,;FIP1L1,intron_variant,,ENST00000507166,;FIP1L1,upstream_gene_variant,,ENST00000504094,;FIP1L1,splice_region_variant,,ENST00000505125,;FIP1L1,splice_region_variant,,ENST00000514543,;FIP1L1,splice_region_variant,,ENST00000513975,;FIP1L1,splice_region_variant,,ENST00000513008,;	uc003gzy.2	c.1019T>C	1213/2198	4	4			c.1019T>C	T		PDGFRA		idiopathic hypereosinophilic syndrome	4	SNP	c.(1018-1020)GTC>GCC	45	45			ovary(1)|skin(1)	2	Broad	FIP1 like 1 isoform 1			54294195		0.264	ENSG00000145216	5793	g.chr4:54294195T>C	mRNA processing	nucleus	RNA binding			17			17	83.518902	KEEP	16	15	-1	32	46	16	15	-1	87.11113	32	46	0.288889	1	0	0	0	0	1	0	0	0	--	--		0	C			PDGFRA_uc003haa.2_Intron|FIP1L1_uc003gzx.3_Missense_Mutation_p.V325A|FIP1L1_uc011bzt.1_Missense_Mutation_p.V304A|FIP1L1_uc011bzu.1_Missense_Mutation_p.V325A|FIP1L1_uc003gzz.2_Missense_Mutation_p.V266A|FIP1L1_uc003hab.2_Missense_Mutation_p.V305A|FIP1L1_uc003hac.2_Missense_Mutation_p.V85A|FIP1L1_uc010ign.2_RNA|FIP1L1_uc003had.2_5'UTR|FIP1L1_uc003hae.2_5'UTR	267	GBM-76-4927-TP	p.V340A	T	TAATTTTAGGTCCTTTCTGAA	NM_030917	NP_112179	54294195	Q6UN15	FIP1_HUMAN	0	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		13	1205	+	C	C			Missense_Mutation	340			Necessary for stimulating PAPOLA activity.	Breakpoint for interstitial deletion to form the FIP1L1-PDGFRA fusion protein.		
FIS1	51024	broad.mit.edu	GRCh37	7	100884131	100884131	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-2483-01	TCGA-02-2483-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000223136.4:c.235G>A	p.Val79Met	p.V79M	ENST00000223136	NM_016068.2	79	Gtg/Atg	0			1			T	V/M	uc003uyj.3	protein_coding	YES	CCDS43626.1			235/459										0	c.(235-237)GTG>ATG			Gene3D:1.25.40.10,Pfam_domain:PF14853,PIRSF_domain:PIRSF008835,hmmpanther:PTHR13247,hmmpanther:PTHR13247:SF0,Superfamily_domains:SSF48452	tetratricopeptide repeat domain 11				ENSP00000223136		5-Mar	1.65E-05					3.00E-05			rs768025810,COSM3411411	5-Mar	.		ENST00000223136	Transcript			apoptosis|mitochondrial fission|peroxisome fission	integral to mitochondrial outer membrane|integral to peroxisomal membrane	protein binding	ENSG00000214253	g.chr7:100884131C>T	21689			MODERATE		2.525	medium	getma.org/?cm=msa&ty=f&p=FIS1_HUMAN&rb=1&re=150&var=V79M	getma.org/pdb.php?prot=FIS1_HUMAN&from=1&to=150&var=V79M	getma.org/?cm=var&var=hg19,7,100884131,C,T&fts=all	V79M	--	--	1																																		CLDN15_uc003uyh.1_5'Flank|FIS1_uc010lht.2_RNA|FIS1_uc010lhu.2_RNA	0,1	1		benign(0.297)	p.V79M	NM_016068	NP_057152		deleterious(0.01)	0,1	FIS1_HUMAN	FIS1	HGNC	Q9Y3D6	FIS1_HUMAN					3	321	-	Lung NSC(181;0.168)|all_lung(186;0.215)		UPI000007214F	79			TPR.|Cytoplasmic (Potential).		SNV	FIS1,missense_variant,p.Arg24His,ENST00000474120,;FIS1,missense_variant,p.Val79Met,ENST00000223136,NM_016068.2;FIS1,missense_variant,p.Arg55His,ENST00000442303,;FIS1,synonymous_variant,p.=,ENST00000435848,;CLDN15,upstream_gene_variant,,ENST00000401528,NM_001185080.1;CLDN15,upstream_gene_variant,,ENST00000308344,NM_014343.2;CLDN15,upstream_gene_variant,,ENST00000412417,;CLDN15,upstream_gene_variant,,ENST00000414035,;FIS1,non_coding_transcript_exon_variant,,ENST00000482199,;FIS1,non_coding_transcript_exon_variant,,ENST00000480497,;FIS1,non_coding_transcript_exon_variant,,ENST00000463406,;CLDN15,upstream_gene_variant,,ENST00000433422,;FIS1,synonymous_variant,p.=,ENST00000473527,;FIS1,synonymous_variant,p.=,ENST00000449367,;CLDN15,upstream_gene_variant,,ENST00000463331,;CLDN15,upstream_gene_variant,,ENST00000433833,;	uc003uyj.3	c.235G>A	316/734	1	1			c.235G>A						7	SNP	c.(235-237)GTG>ATG	15	15				0	Broad	tetratricopeptide repeat domain 11			100884131		0.602	ENSG00000214253	5794	g.chr7:100884131C>T	apoptosis|mitochondrial fission|peroxisome fission	integral to mitochondrial outer membrane|integral to peroxisomal membrane	protein binding							-28.895665	KEEP	5	2	-1	86	100	5	2	-1	11.847939	86	100	0.039326	1	0	0	0	0	1	0	0	0	--	--		0	T			CLDN15_uc003uyh.1_5'Flank|FIS1_uc010lht.2_RNA|FIS1_uc010lhu.2_RNA	6	GBM-02-2483-TP	p.V79M	C	TAGTTCCCCACGGCCAGGTAG	NM_016068	NP_057152	100884131	Q9Y3D6	FIS1_HUMAN	0			3	321	-	T	T	Lung NSC(181;0.168)|all_lung(186;0.215)		Missense_Mutation	79			TPR.|Cytoplasmic (Potential).			
FIS1	51024	broad.mit.edu	GRCh37	7	100887381	100887381	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-2557-01	TCGA-06-2557-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000223136.4:c.85T>A	p.Ser29Thr	p.S29T	ENST00000223136	NM_016068.2	29	Tcg/Acg	0			1			T	S/T	uc003uyj.3	protein_coding	YES	CCDS43626.1			85/459										0	c.(85-87)TCG>ACG			Gene3D:1.25.40.10,PIRSF_domain:PIRSF008835,hmmpanther:PTHR13247,hmmpanther:PTHR13247:SF0,Superfamily_domains:SSF48452	tetratricopeptide repeat domain 11				ENSP00000223136		5-Feb									COSM2152560	5-Feb	.		ENST00000223136	Transcript			apoptosis|mitochondrial fission|peroxisome fission	integral to mitochondrial outer membrane|integral to peroxisomal membrane	protein binding	ENSG00000214253	g.chr7:100887381A>T	21689			MODERATE		0.645	neutral	getma.org/?cm=msa&ty=f&p=FIS1_HUMAN&rb=1&re=150&var=S29T	getma.org/pdb.php?prot=FIS1_HUMAN&from=1&to=150&var=S29T	getma.org/?cm=var&var=hg19,7,100887381,A,T&fts=all	S29T	--	--	1																																OREG0018218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	FIS1_uc010lht.2_RNA|FIS1_uc010lhu.2_Intron	1	1		benign(0.003)	p.S29T	NM_016068	NP_057152		tolerated(0.55)	1	FIS1_HUMAN	FIS1	HGNC	Q9Y3D6	FIS1_HUMAN					2	171	-	Lung NSC(181;0.168)|all_lung(186;0.215)		UPI000007214F	29			Cytoplasmic (Potential).		SNV	FIS1,missense_variant,p.Ser29Thr,ENST00000223136,NM_016068.2;FIS1,synonymous_variant,p.=,ENST00000435848,;FIS1,intron_variant,,ENST00000474120,;FIS1,intron_variant,,ENST00000442303,;FIS1,intron_variant,,ENST00000480497,;FIS1,upstream_gene_variant,,ENST00000482199,;FIS1,upstream_gene_variant,,ENST00000463406,;FIS1,synonymous_variant,p.=,ENST00000473527,;FIS1,intron_variant,,ENST00000449367,;	uc003uyj.3	c.85T>A	166/734	2	2			c.85T>A						7	SNP	c.(85-87)TCG>ACG	48	48				0	Broad	tetratricopeptide repeat domain 11			100887381		0.512	ENSG00000214253	5794	g.chr7:100887381A>T	apoptosis|mitochondrial fission|peroxisome fission	integral to mitochondrial outer membrane|integral to peroxisomal membrane	protein binding							91.339441	KEEP	19	18	-1	53	50	19	18	-1	97.979115	53	50	0.266667	1	0	0	0	0	1	0	0	0	--	--		0	T	OREG0018218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	FIS1_uc010lht.2_RNA|FIS1_uc010lhu.2_Intron	81	GBM-06-2557-TP	p.S29T	A	TTGGACACCGAGCCTGCTGCC	NM_016068	NP_057152	100887381	Q9Y3D6	FIS1_HUMAN	0			2	171	-	T	T	Lung NSC(181;0.168)|all_lung(186;0.215)		Missense_Mutation	29			Cytoplasmic (Potential).			
FKBP10	60681	broad.mit.edu	GRCh37	17	39975472	39975472	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0750-01	TCGA-06-0750-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321562.4:c.738C>T	p.Ile246=	p.I246=	ENST00000321562	NM_021939.3	246	atC/atT	0		T:0	1	T:0		T	I	uc002hxv.2	protein_coding	YES	CCDS11409.1			738/1749									ovary(1)	1	c.(736-738)ATC>ATT			Gene3D:3.10.50.40,Pfam_domain:PF00254,PROSITE_profiles:PS50059,hmmpanther:PTHR10516,hmmpanther:PTHR10516:SF247,Superfamily_domains:SSF54534	FK506 binding protein 10 precursor		T:0		ENSP00000317232	T:0	10-May	8.24E-06							6.06E-05	rs573865037,COSM2151943	10-May	.		ENST00000321562	Transcript	1	T:0.0002	protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	ENSG00000141756	g.chr17:39975472C>T	18169			LOW								--	--	1																																		FKBP10_uc002hxw.1_5'UTR	0,1	1			p.I246I	NM_021939	NP_068758	T:0.001		0,1	FKB10_HUMAN	FKBP10	HGNC	Q96AY3	FKB10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	K7ESG6_HUMAN,K7ELI6_HUMAN,C9JPC3_HUMAN		5	1063	+		Breast(137;0.00122)	UPI000012A80A	246			PPIase FKBP-type 2.		SNV	FKBP10,synonymous_variant,p.=,ENST00000321562,NM_021939.3;FKBP10,upstream_gene_variant,,ENST00000455106,;FKBP10,upstream_gene_variant,,ENST00000544340,;FKBP10,downstream_gene_variant,,ENST00000585664,;FKBP10,downstream_gene_variant,,ENST00000585922,;FKBP10,downstream_gene_variant,,ENST00000429461,;FKBP10,3_prime_UTR_variant,,ENST00000489591,;FKBP10,non_coding_transcript_exon_variant,,ENST00000487489,;FKBP10,upstream_gene_variant,,ENST00000464180,;FKBP10,upstream_gene_variant,,ENST00000490938,;	uc002hxv.2	c.738C>T	842/2658	2	2			c.738C>T						17	SNP	c.(736-738)ATC>ATT	43	43			ovary(1)	1	Broad	FK506 binding protein 10 precursor			39975472		0.607	ENSG00000141756	5799	g.chr17:39975472C>T	protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity							174.92534	KEEP	42	30	-1	70	89	42	30	-1	180.786128	70	89	0.322115	1	0	0	0	0	0	0	1	0	--	--		0	T			FKBP10_uc002hxw.1_5'UTR	70	GBM-06-0750-TP	p.I246I	C	GGACAGTGATCCCCCCACAGG	NM_021939	NP_068758	39975472	Q96AY3	FKB10_HUMAN	0		BRCA - Breast invasive adenocarcinoma(366;0.148)	5	1063	+	T	T		Breast(137;0.00122)	Silent	246			PPIase FKBP-type 2.			
FKBP10	0	broad.mit.edu	GRCh37	17	39969482	39969482	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01	TCGA-41-2573-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321562.4:c.196C>T	p.Arg66Cys	p.R66C	ENST00000321562	NM_021939.3	66	Cgc/Tgc	0			1			T	R/C	uc002hxv.2	protein_coding	YES	CCDS11409.1			196/1749									ovary(1)	1	c.(196-198)CGC>TGC			Gene3D:3.10.50.40,Pfam_domain:PF00254,PROSITE_profiles:PS50059,hmmpanther:PTHR10516,hmmpanther:PTHR10516:SF247,Superfamily_domains:SSF54534	FK506 binding protein 10 precursor				ENSP00000317232		10-Jan									COSM3402897	10-Jan	.		ENST00000321562	Transcript	1		protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	ENSG00000141756	g.chr17:39969482C>T	18169			MODERATE		2.87	medium	getma.org/?cm=msa&ty=f&p=FKB10_HUMAN&rb=55&re=147&var=R66C	getma.org/pdb.php?prot=FKB10_HUMAN&from=55&to=147&var=R66C	getma.org/?cm=var&var=hg19,17,39969482,C,T&fts=all	R66C	--	--	1																																		SC65_uc002hxt.2_5'Flank|SC65_uc002hxu.2_5'Flank	1	1		probably_damaging(1)	p.R66C	NM_021939	NP_068758		deleterious(0)	1	FKB10_HUMAN	FKBP10	HGNC	Q96AY3	FKB10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	K7ESG6_HUMAN,K7ELI6_HUMAN,C9JPC3_HUMAN		1	521	+		Breast(137;0.00122)	UPI000012A80A	66			PPIase FKBP-type 1.		SNV	FKBP10,missense_variant,p.Arg66Cys,ENST00000321562,NM_021939.3;FKBP10,missense_variant,p.Arg6Cys,ENST00000585664,;FKBP10,missense_variant,p.Arg66Cys,ENST00000585922,;FKBP10,missense_variant,p.Arg6Cys,ENST00000429461,;LEPREL4,upstream_gene_variant,,ENST00000355468,;LEPREL4,upstream_gene_variant,,ENST00000393928,NM_006455.2;LEPREL4,upstream_gene_variant,,ENST00000592026,;LEPREL4,upstream_gene_variant,,ENST00000590496,;FKBP10,missense_variant,p.Arg66Cys,ENST00000489591,;LEPREL4,upstream_gene_variant,,ENST00000467164,;LEPREL4,upstream_gene_variant,,ENST00000587455,;	uc002hxv.2	c.196C>T	300/2658	2	2			c.196C>T						17	SNP	c.(196-198)CGC>TGC	24	24			ovary(1)	1	Broad	FK506 binding protein 10 precursor			39969482		0.502	ENSG00000141756	5799	g.chr17:39969482C>T	protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity							-41.238157	KEEP	3	2	-1	129	96	3	2	-1	6.626368	129	96	0.02139	1	0	0	0	0	1	0	0	0	--	--		0	T			SC65_uc002hxt.2_5'Flank|SC65_uc002hxu.2_5'Flank	252	GBM-41-2573-TP	p.R66C	C	GGATTTTGTGCGCTACCACTA	NM_021939	NP_068758	39969482	Q96AY3	FKB10_HUMAN	0		BRCA - Breast invasive adenocarcinoma(366;0.148)	1	521	+	T	T		Breast(137;0.00122)	Missense_Mutation	66			PPIase FKBP-type 1.			
FKBP6	8468	broad.mit.edu	GRCh37	7	72744235	72744235	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252037.4:c.348C>T	p.Tyr116=	p.Y116=	ENST00000252037	NM_003602.4	116	taC/taT	0			1			T	Y	uc003tya.2	protein_coding	YES	CCDS43595.1			348/984										0	c.(346-348)TAC>TAT			Gene3D:3.10.50.40,Pfam_domain:PF00254,PROSITE_profiles:PS50059,hmmpanther:PTHR10516,hmmpanther:PTHR10516:SF10,Superfamily_domains:SSF54534	FK506 binding protein 6 isoform a				ENSP00000252037		9-Apr	8.24E-06					1.50E-05			rs782077413,COSM2153370,COSM2153369	9-Apr	.		ENST00000252037	Transcript			protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	ENSG00000077800	g.chr7:72744235C>T	3722			LOW								--	--	1																																		FKBP6_uc003twz.2_Intron|FKBP6_uc011kew.1_Silent_p.Y111Y|FKBP6_uc010lbe.1_RNA|TRIM50_uc003txy.1_5'Flank|TRIM50_uc003txz.1_5'Flank	0,1,1	1			p.Y116Y	NM_003602	NP_003593			0,1,1	FKBP6_HUMAN	FKBP6	HGNC	O75344	FKBP6_HUMAN					4	480	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	UPI000000165F	116			PPIase FKBP-type.		SNV	FKBP6,synonymous_variant,p.=,ENST00000252037,NM_003602.4;FKBP6,synonymous_variant,p.=,ENST00000413573,NM_001281304.1;FKBP6,synonymous_variant,p.=,ENST00000431982,NM_001135211.2;FKBP6,synonymous_variant,p.=,ENST00000442793,;TRIM50,upstream_gene_variant,,ENST00000333149,NM_001281450.1,NM_178125.3;TRIM50,upstream_gene_variant,,ENST00000453152,NM_001281451.1;TRIM50,upstream_gene_variant,,ENST00000493498,;FKBP6,synonymous_variant,p.=,ENST00000429879,;FKBP6,3_prime_UTR_variant,,ENST00000445032,;FKBP6,downstream_gene_variant,,ENST00000437013,;	uc003tya.2	c.348C>T	417/1500	2	2			c.348C>T						7	SNP	c.(346-348)TAC>TAT	22	22				0	Broad	FK506 binding protein 6 isoform a			72744235		0.537	ENSG00000077800	5809	g.chr7:72744235C>T	protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity							204.829593	KEEP	37	46	-1	81	82	37	46	-1	209.588212	81	82	0.343891	1	0	0	0	0	0	0	1	0	--	--		0	T			FKBP6_uc003twz.2_Intron|FKBP6_uc011kew.1_Silent_p.Y111Y|FKBP6_uc010lbe.1_RNA|TRIM50_uc003txy.1_5'Flank|TRIM50_uc003txz.1_5'Flank	100	GBM-06-5418-TP	p.Y116Y	C	AACCGAACTACGCCTATGGAA	NM_003602	NP_003593	72744235	O75344	FKBP6_HUMAN	0			4	480	+	T	T		Lung NSC(55;0.0908)|all_lung(88;0.198)	Silent	116			PPIase FKBP-type.			
FKBP9	0	broad.mit.edu	GRCh37	7	33044873	33044873	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000242209.4:c.1623G>A	p.Met541Ile	p.M541I	ENST00000242209	NM_007270.3	541	atG/atA	0			1			A	M/I	uc003tdh.2	protein_coding	YES	CCDS5439.1			1623/1713									central_nervous_system(13)|ovary(1)	14	c.(1621-1623)ATG>ATA			Gene3D:1.10.238.10,PROSITE_profiles:PS50222,hmmpanther:PTHR10516,hmmpanther:PTHR10516:SF111,SMART_domains:SM00054,Superfamily_domains:SSF47473	FK506 binding protein 9 precursor				ENSP00000242209		10-Oct									COSM3411995,COSM3411996	10-Oct	.		ENST00000242209	Transcript			protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	ENSG00000122642	g.chr7:33044873G>A	3725			MODERATE		1.965	medium	getma.org/?cm=msa&ty=f&p=FKB9L_HUMAN&rb=90&re=142&var=M113I	NA	getma.org/?cm=var&var=hg19,7,33044873,G,A&fts=all	M113I	--	--	1																																		AVL9_uc011kai.1_Intron|FKBP9_uc011kak.1_RNA|FKBP9_uc011kal.1_Missense_Mutation_p.M594I|FKBP9_uc011kam.1_Missense_Mutation_p.M309I	1,1	1		probably_damaging(0.937)	p.M541I	NM_007270	NP_009201		tolerated(0.08)	1,1	FKBP9_HUMAN	FKBP9	HGNC	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		B7ZAH5_HUMAN,B7Z230_HUMAN,A7YQ73_HUMAN		10	1804	+			UPI00001B6B0A	541			EF-hand 2.		SNV	FKBP9,missense_variant,p.Met541Ile,ENST00000242209,NM_007270.3;FKBP9,missense_variant,p.Met594Ile,ENST00000538336,NM_001284341.1;FKBP9,missense_variant,p.Met403Ile,ENST00000538443,;FKBP9,missense_variant,p.Met309Ile,ENST00000490776,NM_001284343.1;AVL9,intron_variant,,ENST00000404479,;FKBP9,downstream_gene_variant,,ENST00000418354,;RNU6-388P,upstream_gene_variant,,ENST00000517012,;FKBP9,non_coding_transcript_exon_variant,,ENST00000471066,;FKBP9,non_coding_transcript_exon_variant,,ENST00000475220,;FKBP9,downstream_gene_variant,,ENST00000468510,;	uc003tdh.2	c.1623G>A	1792/3462	2	2			c.1623G>A						7	SNP	c.(1621-1623)ATG>ATA	41	41			central_nervous_system(13)|ovary(1)	14	Broad	FK506 binding protein 9 precursor			33044873		0.493	ENSG00000122642	5812	g.chr7:33044873G>A	protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity							116.616233	KEEP	24	27	-1	69	76	24	27	-1	120.719565	69	76	0.319149	1	0	0	0	0	1	0	0	0	--	--		0	A			AVL9_uc011kai.1_Intron|FKBP9_uc011kak.1_RNA|FKBP9_uc011kal.1_Missense_Mutation_p.M594I|FKBP9_uc011kam.1_Missense_Mutation_p.M309I	129	GBM-12-5295-TP	p.M541I	G	TGAAGAATATGTTCACCAACC	NM_007270	NP_009201	33044873	O95302	FKBP9_HUMAN	0	GBM - Glioblastoma multiforme(11;0.0156)		10	1804	+	A	A			Missense_Mutation	541			EF-hand 2.			
FKBP9L			GRCh37	7	55753014	55753014	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000455909.1:n.550G>A		p.*184*	ENST00000455909				0																																																																																																																																																																																																																																												
FKBPL	0	broad.mit.edu	GRCh37	6	32097113	32097113	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375156.3:c.445G>A	p.Gly149Arg	p.G149R	ENST00000375156	NM_022110.3	149	Ggg/Agg	0			1			T	G/R	uc003nzr.2	protein_coding	YES	CCDS4738.1			445/1050										0	c.(445-447)GGG>AGG			hmmpanther:PTHR10516,hmmpanther:PTHR10516:SF145,Superfamily_domains:SSF54534	WAF-1/CIP1 stabilizing protein 39				ENSP00000364298		2-Feb									COSM3410974	2-Feb	.		ENST00000375156	Transcript			response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	ENSG00000204315	g.chr6:32097113C>T	13949			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=FKBPL_HUMAN&rb=90&re=207&var=G149R	getma.org/pdb.php?prot=FKBPL_HUMAN&from=90&to=207&var=G149R	getma.org/?cm=var&var=hg19,6,32097113,C,T&fts=all	G149R	--	--	1																																		ATF6B_uc003nzo.2_5'Flank|ATF6B_uc003nzn.2_5'Flank|ATF6B_uc011dpg.1_5'Flank|ATF6B_uc011dph.1_5'Flank	1	1		probably_damaging(0.995)	p.G149R	NM_022110	NP_071393		deleterious(0)	1	FKBPL_HUMAN	FKBPL	HGNC	Q9UIM3	FKBPL_HUMAN					2	715	-			UPI0000036B85	149					SNV	FKBPL,missense_variant,p.Gly149Arg,ENST00000375156,NM_022110.3;ATF6B,upstream_gene_variant,,ENST00000375201,;ATF6B,upstream_gene_variant,,ENST00000375203,NM_001136153.1,NM_004381.4;ATF6B,upstream_gene_variant,,ENST00000468502,;ATF6B,upstream_gene_variant,,ENST00000495579,;ATF6B,upstream_gene_variant,,ENST00000485314,;	uc003nzr.2	c.445G>A	716/1345	2	2			c.445G>A						6	SNP	c.(445-447)GGG>AGG	20	20				0	Broad	WAF-1/CIP1 stabilizing protein 39			32097113		0.582	ENSG00000204315	5813	g.chr6:32097113C>T	response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity							832.98433	KEEP	152	112	-1	41	47	152	112	-1	851.528356	41	47	0.759076	1	0	0	0	0	1	0	0	0	--	--		0	T			ATF6B_uc003nzo.2_5'Flank|ATF6B_uc003nzn.2_5'Flank|ATF6B_uc011dpg.1_5'Flank|ATF6B_uc011dph.1_5'Flank	269	GBM-76-4929-TP	p.G149R	C	CTCCATGGCCCTACGCCCATA	NM_022110	NP_071393	32097113	Q9UIM3	FKBPL_HUMAN	0			2	715	-	T	T			Missense_Mutation	149						
FKRP	0	broad.mit.edu	GRCh37	19	47258817	47258817	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01	TCGA-28-2509-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318584.5:c.110G>A	p.Arg37Gln	p.R37Q	ENST00000318584	NM_024301.4	37	cGg/cAg	0			1			A	R/Q	uc002pfn.2	protein_coding	YES	CCDS12691.1			110/1488									pancreas(1)	1	c.(109-111)CGG>CAG			Low_complexity_(Seg):seg,hmmpanther:PTHR13627,hmmpanther:PTHR13627:SF25	fukutin-related protein				ENSP00000326570		4-Apr	8.27E-06			0.000162					rs779317138,COSM3404411	4-Apr	.		ENST00000318584	Transcript	1			extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity	ENSG00000181027	g.chr19:47258817G>A	17997			MODERATE		0.14	neutral	getma.org/?cm=msa&ty=f&p=FKRP_HUMAN&rb=1&re=200&var=R37Q	NA	getma.org/?cm=var&var=hg19,19,47258817,G,A&fts=all	R37Q	1.1	low	1																																		FKRP_uc002pfp.2_Missense_Mutation_p.R37Q	0,1	1		benign(0.011)	p.R37Q	NM_024301	NP_077277		tolerated(0.62)	0,1	FKRP_HUMAN	FKRP	HGNC	Q9H9S5	FKRP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)	M0R342_HUMAN,M0R2U3_HUMAN,M0R274_HUMAN,M0R1M1_HUMAN,M0R112_HUMAN,M0R0G0_HUMAN,M0R092_HUMAN,M0R016_HUMAN,M0R005_HUMAN,M0QZ68_HUMAN,M0QZ46_HUMAN,M0QYV8_HUMAN,M0QYV4_HUMAN,M0QYR2_HUMAN,M0QXT8_HUMAN,M0QX03_HUMAN		4	407	+		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	UPI00000732D0	37					SNV	FKRP,missense_variant,p.Arg37Gln,ENST00000318584,NM_024301.4,NM_001039885.2;FKRP,missense_variant,p.Arg37Gln,ENST00000391909,;FKRP,missense_variant,p.Arg37Gln,ENST00000601299,;FKRP,missense_variant,p.Arg37Gln,ENST00000600629,;FKRP,missense_variant,p.Arg37Gln,ENST00000593875,;FKRP,missense_variant,p.Arg37Gln,ENST00000593800,;FKRP,missense_variant,p.Arg37Gln,ENST00000597313,;FKRP,missense_variant,p.Arg37Gln,ENST00000595570,;FKRP,missense_variant,p.Arg37Gln,ENST00000593902,;FKRP,missense_variant,p.Arg37Gln,ENST00000602250,;FKRP,missense_variant,p.Arg37Gln,ENST00000596460,;FKRP,missense_variant,p.Arg37Gln,ENST00000600227,;FKRP,missense_variant,p.Arg37Gln,ENST00000595868,;FKRP,missense_variant,p.Arg37Gln,ENST00000600834,;FKRP,missense_variant,p.Arg37Gln,ENST00000600005,;FKRP,missense_variant,p.Arg37Gln,ENST00000602181,;FKRP,5_prime_UTR_variant,,ENST00000594467,;FKRP,downstream_gene_variant,,ENST00000593877,;FKRP,downstream_gene_variant,,ENST00000598271,;FKRP,non_coding_transcript_exon_variant,,ENST00000596974,;FKRP,intron_variant,,ENST00000600646,;FKRP,intron_variant,,ENST00000597339,;FKRP,downstream_gene_variant,,ENST00000600977,;FKRP,downstream_gene_variant,,ENST00000600872,;	uc002pfn.2	c.110G>A	407/3332	2	2			c.110G>A						19	SNP	c.(109-111)CGG>CAG	33	33			pancreas(1)	1	Broad	fukutin-related protein			47258817		0.677	ENSG00000181027	5814	g.chr19:47258817G>A		extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity							30.479732	KEEP	3	9	-1	4	3	3	9	-1	30.732122	4	3	0.642857	1	0	0	0	0	1	0	0	0	1.1	low		0	A			FKRP_uc002pfp.2_Missense_Mutation_p.R37Q	211	GBM-28-2509-TP	p.R37Q	G	TCCCGGGCCCGGGGGCCCCGT	NM_024301	NP_077277	47258817	Q9H9S5	FKRP_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)	4	407	+	A	A		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	Missense_Mutation	37						
FLCN	0	broad.mit.edu	GRCh37	17	17119805	17119805	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285071.4:c.1189G>A	p.Val397Met	p.V397M	ENST00000285071	NM_144997.5	397	Gtg/Atg	0			1			T	V/M	uc002gra.3	protein_coding	YES	CCDS32579.1			1189/1740									thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	3	c.(1189-1191)GTG>ATG			hmmpanther:PTHR31441	folliculin isoform 1				ENSP00000285071		14-Nov	1.65E-05					1.54E-05		6.10E-05	rs752006809,COSM3402634	14-Nov	.	Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer	ENST00000285071	Transcript	1		regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding	ENSG00000154803	g.chr17:17119805C>T	27310			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=FLCN_HUMAN&rb=268&re=467&var=V397M	NA	getma.org/?cm=var&var=hg19,17,17119805,C,T&fts=all	V397M	--	--	1																																		PLD6_uc010cpn.2_RNA	0,1	1		benign(0.229)	p.V397M	NM_144997	NP_659434		tolerated(0.09)	0,1	FLCN_HUMAN	FLCN	HGNC	Q8NFG4	FLCN_HUMAN			J3QQZ7_HUMAN,C9J4C4_HUMAN		11	1693	-			UPI0000071D7A	397					SNV	FLCN,missense_variant,p.Val397Met,ENST00000285071,NM_144997.5;MPRIP,intron_variant,,ENST00000578209,;FLCN,downstream_gene_variant,,ENST00000389169,NM_144606.5;RP11-45M22.4,3_prime_UTR_variant,,ENST00000427497,;FLCN,downstream_gene_variant,,ENST00000466317,;FLCN,downstream_gene_variant,,ENST00000577591,;	uc002gra.3	c.1189G>A	1644/3638	1	1			c.1189G>A						17	SNP	c.(1189-1191)GTG>ATG	2	2			thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	3	Broad	folliculin isoform 1			17119805	Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer	0.637	ENSG00000154803	5818	g.chr17:17119805C>T	regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			287			287	53.538931	KEEP	10	9	-1	13	22	10	9	-1	54.10328	13	22	0.382979	1	0	0	0	0	1	0	0	0	--	--		0	T			PLD6_uc010cpn.2_RNA	249	GBM-32-5222-TP	p.V397M	C	ACGCAGCCCACGGGAAGCATG	NM_144997	NP_659434	17119805	Q8NFG4	FLCN_HUMAN	0			11	1693	-	T	T			Missense_Mutation	397						
FLG	2312	broad.mit.edu	GRCh37	1	152279764	152279764	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-2485-01	TCGA-02-2485-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368799.1:c.7598G>A	p.Arg2533His	p.R2533H	ENST00000368799	NM_002016.1	2533	cGt/cAt	0			1			T	R/H	uc001ezu.1	protein_coding	YES	CCDS30860.1			7598/12186									ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	c.(7597-7599)CGT>CAT			Low_complexity_(Seg):seg,Pfam_domain:PF03516	filaggrin				ENSP00000357789		3-Mar	4.12E-05	9.61E-05				1.50E-05		0.000182	rs754603159,COSM3399728	3-Mar	.	Ichthyosis	ENST00000368799	Transcript	1		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	ENSG00000143631	g.chr1:152279764C>T	3748			MODERATE		0.75	neutral	getma.org/?cm=msa&ty=f&p=FILA_HUMAN&rb=2525&re=2576&var=R2533H	NA	getma.org/?cm=var&var=hg19,1,152279764,C,T&fts=all	R2533H	--	--	1																																			0,1	1		benign(0.156)	p.R2533H	NM_002016	NP_002007			0,1	FILA_HUMAN	FLG	HGNC	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN		3	7634	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000470CB3	2533			Ser-rich.|Filaggrin 15.		SNV	FLG,missense_variant,p.Arg2533His,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	uc001ezu.1	c.7598G>A	7634/12747	2	2			c.7598G>A						1	SNP	c.(7597-7599)CGT>CAT	46	46			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Broad	filaggrin			152279764	Ichthyosis	0.592	ENSG00000143631	5819	g.chr1:152279764C>T	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity							578.451592	KEEP	135	133	-1	255	292	135	133	-1	598.872698	255	292	0.319088	1	0	0	0	0	1	0	0	0	--	--		0	T				7	GBM-02-2485-TP	p.R2533H	C	TTCATGGTGACGCGACCCTGA	NM_002016	NP_002007	152279764	P20930	FILA_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7634	-	T	T	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	2533			Ser-rich.|Filaggrin 15.			
FLG	2312	broad.mit.edu	GRCh37	1	152275657	152275657	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0124-01	TCGA-06-0124-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368799.1:c.11705C>A	p.Pro3902His	p.P3902H	ENST00000368799	NM_002016.1	3902	cCc/cAc	0			1			T	P/H	uc001ezu.1	protein_coding	YES	CCDS30860.1			11705/12186									ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	c.(11704-11706)CCC>CAC				filaggrin				ENSP00000357789		3-Mar									COSM2149296	3-Mar	.	Ichthyosis	ENST00000368799	Transcript	1		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	ENSG00000143631	g.chr1:152275657G>T	3748			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=FILA_HUMAN&rb=3873&re=4061&var=P3902H	NA	getma.org/?cm=var&var=hg19,1,152275657,G,T&fts=all	P3902H	--	--	1																																			1	1		unknown(0)	p.P3902H	NM_002016	NP_002007			1	FILA_HUMAN	FLG	HGNC	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN		3	11741	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000470CB3	3902			Ser-rich.		SNV	FLG,missense_variant,p.Pro3902His,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	uc001ezu.1	c.11705C>A	11741/12747	2	2			c.11705C>A						1	SNP	c.(11704-11706)CCC>CAC	44	44			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Broad	filaggrin			152275657	Ichthyosis	0.512	ENSG00000143631	5819	g.chr1:152275657G>T	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity							111.745474	KEEP	22	22	0.5	57	36	22	22	0.5	115.12344	57	36	0.330827	1	0	0	0	0	1	0	0	0	--	--		0	T				11	GBM-06-0124-TP	p.P3902H	G	AGAGGATCCGGGGTGTCTGGA	NM_002016	NP_002007	152275657	P20930	FILA_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11741	-	T	T	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	3902			Ser-rich.			
FLG	2312	broad.mit.edu	GRCh37	1	152283083	152283083	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs148844389	byFrequency	TCGA-06-0154-01	TCGA-06-0154-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368799.1:c.4279G>A	p.Ala1427Thr	p.A1427T	ENST00000368799	NM_002016.1	1427	Gca/Aca	0	T:0.0005		1			T	A/T	uc001ezu.1	protein_coding	YES	CCDS30860.1			4279/12186									ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	c.(4279-4281)GCA>ACA			Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21	filaggrin			T:0.0008	ENSP00000357789		3-Mar	0.000461	0.000384	0.000173	0.000116		0.000704	0.0011	6.06E-05	rs148844389,COSM2149898	3-Mar	common_variant	Ichthyosis	ENST00000368799	Transcript	1		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	ENSG00000143631	g.chr1:152283083C>T	3748			MODERATE		0.245	neutral	getma.org/?cm=msa&ty=f&p=FILA_HUMAN&rb=1402&re=1551&var=A1427T	NA	getma.org/?cm=var&var=hg19,1,152283083,C,T&fts=all	A1427T	--	--	1																																		uc001ezv.2_5'Flank	0,1	1		possibly_damaging(0.499)	p.A1427T	NM_002016	NP_002007			0,1	FILA_HUMAN	FLG	HGNC	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN		3	4315	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000470CB3	1427			Ser-rich.		SNV	FLG,missense_variant,p.Ala1427Thr,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	uc001ezu.1	c.4279G>A	4315/12747	2	2			c.4279G>A						1	SNP	c.(4279-4281)GCA>ACA	42	42			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Broad	filaggrin			152283083	Ichthyosis	0.557	ENSG00000143631	5819	g.chr1:152283083C>T	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity							377.51982	KEEP	75	66	-1	145	138	75	66	-1	385.089017	145	138	0.349206	1	0	0	0	0	1	0	0	0	--	--		0	T			uc001ezv.2_5'Flank	26	GBM-06-0154-TP	p.A1427T	C	TGGCCACGTGCGGACTCTTTG	NM_002016	NP_002007	152283083	P20930	FILA_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4315	-	T	T	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	1427			Ser-rich.			
FLG	2312	broad.mit.edu	GRCh37	1	152276467	152276468	+	inframe_insertion	In_Frame_Ins	INS	-	-	GGA			TCGA-06-0158-01	TCGA-06-0158-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368799.1:c.10894_10895insTCC	p.Gln3631_Gln3632insLeu	p.Q3631_Q3632insL	ENST00000368799	NM_002016.1	3632	cag/cTCCag	0			1			GGA	Q/LQ	uc001ezu.1	protein_coding	YES	CCDS30860.1			10894-10895/12186									ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	c.(10894-10896)CAG>CTCCAG			Pfam_domain:PF03516	filaggrin				ENSP00000357789		3-Mar										3-Mar	.	Ichthyosis	ENST00000368799	Transcript	1		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	ENSG00000143631	g.chr1:152276467_152276468insGGA	3748			MODERATE								--	--	1																																				1			p.3631_3632insL	NM_002016	NP_002007				FILA_HUMAN	FLG	HGNC	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN		3	10930_10931	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000470CB3	3631_3632			Filaggrin 22.|Ser-rich.		insertion	FLG,inframe_insertion,p.Gln3631_Gln3632insLeu,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	uc001ezu.1	c.10894_10895insTCC	10930-10931/12747	5	5			c.10894_10895insTCC						1	INS	c.(10894-10896)CAG>CTCCAG	16	16			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Broad	filaggrin			152276468	Ichthyosis	0.554	ENSG00000143631	5819	g.chr1:152276467_152276468insGGA	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity																				0.01	1	0	0	1	1	0	0	0	0	--	--		0	GGA				29	GBM-06-0158-TP	p.3631_3632insL	-	GTCTGCTGACTGCTGGTGGTGG	NM_002016	NP_002007	152276467	P20930	FILA_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10930_10931	-	GGA	GGA	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		In_Frame_Ins	3631_3632			Filaggrin 22.|Ser-rich.			
FLG	2312	broad.mit.edu	GRCh37	1	152279722	152279722	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-01	TCGA-06-0190-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368799.1:c.7640C>T	p.Ser2547Leu	p.S2547L	ENST00000368799	NM_002016.1	2547	tCg/tTg	0	C:0	A:0	1	A:0		A	S/L	uc001ezu.1	protein_coding	YES	CCDS30860.1			7640/12186									ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	c.(7639-7641)TCG>TTG			Low_complexity_(Seg):seg,Pfam_domain:PF03516	filaggrin		A:0	C:0.0001	ENSP00000357789	A:0	3-Mar	3.30E-05					3.00E-05		0.000121	rs369029216,COSM3399727	3-Mar	.	Ichthyosis	ENST00000368799	Transcript	1	A:0.0002	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	ENSG00000143631	g.chr1:152279722G>A	3748			MODERATE		2.43	medium	getma.org/?cm=msa&ty=f&p=FILA_HUMAN&rb=2525&re=2576&var=S2547L	NA	getma.org/?cm=var&var=hg19,1,152279722,G,A&fts=all	S2547L	--	--	1																																			0,1	1		possibly_damaging(0.829)	p.S2547L	NM_002016	NP_002007	A:0.001		0,1	FILA_HUMAN	FLG	HGNC	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN		3	7676	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000470CB3	2547			Ser-rich.|Filaggrin 15.		SNV	FLG,missense_variant,p.Ser2547Leu,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	uc001ezu.1	c.7640C>T	7676/12747	1	1			c.7640C>T						1	SNP	c.(7639-7641)TCG>TTG	55	55			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Broad	filaggrin			152279722	Ichthyosis	0.577	ENSG00000143631	5819	g.chr1:152279722G>A	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity							449.076138	KEEP	105	72	-1	214	228	105	72	-1	471.647294	214	228	0.289242	1	0	0	0	0	1	0	0	0	--	--		0	A				43	GBM-06-0190-TP	p.S2547L	G	GCCCACCTGCGAGTGTCCAGA	NM_002016	NP_002007	152279722	P20930	FILA_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7676	-	A	A	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	2547			Ser-rich.|Filaggrin 15.			
FLG	2312	broad.mit.edu	GRCh37	1	152286042	152286042	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0195-01	TCGA-06-0195-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368799.1:c.1320C>T	p.His440=	p.H440=	ENST00000368799	NM_002016.1	440	caC/caT	0	A:0		1			A	H	uc001ezu.1	protein_coding	YES	CCDS30860.1			1320/12186									ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	c.(1318-1320)CAC>CAT			hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21	filaggrin			A:0.0002	ENSP00000357789		3-Mar	3.29E-05					3.00E-05		0.000121	rs376019219,COSM3399743	3-Mar	.	Ichthyosis	ENST00000368799	Transcript	1		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	ENSG00000143631	g.chr1:152286042G>A	3748			LOW								--	--	1																																		uc001ezv.2_RNA	0,1	1			p.H440H	NM_002016	NP_002007			0,1	FILA_HUMAN	FLG	HGNC	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN		3	1356	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000470CB3	440			Ser-rich.		SNV	FLG,synonymous_variant,p.=,ENST00000368799,NM_002016.1;FLG-AS1,non_coding_transcript_exon_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	uc001ezu.1	c.1320C>T	1356/12747	1	1			c.1320C>T						1	SNP	c.(1318-1320)CAC>CAT	61	61			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Broad	filaggrin			152286042	Ichthyosis	0.592	ENSG00000143631	5819	g.chr1:152286042G>A	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity							651.939766	KEEP	122	128	-1	131	133	122	128	-1	651.979664	131	133	0.489842	1	0	0	0	0	0	0	1	0	--	--		0	A			uc001ezv.2_RNA	45	GBM-06-0195-TP	p.H440H	G	CAGCCTTTCCGTGGCCTGACA	NM_002016	NP_002007	152286042	P20930	FILA_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1356	-	A	A	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Silent	440			Ser-rich.			
FLG	2312	broad.mit.edu	GRCh37	1	152284473	152284473	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0211-01	TCGA-06-0211-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368799.1:c.2889T>C	p.Ser963=	p.S963=	ENST00000368799	NM_002016.1	963	tcT/tcC	0			1			G	S	uc001ezu.1	protein_coding	YES	CCDS30860.1			2889/12186									ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	c.(2887-2889)TCT>TCC			hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21	filaggrin				ENSP00000357789		3-Mar									COSM2150798	3-Mar	.	Ichthyosis	ENST00000368799	Transcript	1		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	ENSG00000143631	g.chr1:152284473A>G	3748			LOW								--	--	1																																		uc001ezv.2_5'Flank	1	1			p.S963S	NM_002016	NP_002007			1	FILA_HUMAN	FLG	HGNC	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN		3	2925	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000470CB3	963			Ser-rich.		SNV	FLG,synonymous_variant,p.=,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	uc001ezu.1	c.2889T>C	2925/12747	3	3			c.2889T>C						1	SNP	c.(2887-2889)TCT>TCC	1	1			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Broad	filaggrin			152284473	Ichthyosis	0.582	ENSG00000143631	5819	g.chr1:152284473A>G	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity							806.44142	KEEP	146	139	-1	181	168	146	139	-1	807.535945	181	168	0.452763	1	0	0	0	0	0	0	1	0	--	--		0	G			uc001ezv.2_5'Flank	48	GBM-06-0211-TP	p.S963S	A	AAGCAGACCCAGACCACCTCT	NM_002016	NP_002007	152284473	P20930	FILA_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2925	-	G	G	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Silent	963			Ser-rich.			
FLG	2312	broad.mit.edu	GRCh37	1	152286200	152286200	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0743-01	TCGA-06-0743-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368799.1:c.1162C>A	p.His388Asn	p.H388N	ENST00000368799	NM_002016.1	388	Cac/Aac	0			1			T	H/N	uc001ezu.1	protein_coding	YES	CCDS30860.1			1162/12186									ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	c.(1162-1164)CAC>AAC			hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21,Pfam_domain:PF03516	filaggrin				ENSP00000357789		3-Mar									COSM3399744	3-Mar	.	Ichthyosis	ENST00000368799	Transcript	1		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	ENSG00000143631	g.chr1:152286200G>T	3748			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=FILA_HUMAN&rb=374&re=428&var=H388N	NA	getma.org/?cm=var&var=hg19,1,152286200,G,T&fts=all	H388N	--	--	1																																		uc001ezv.2_RNA	1	1		probably_damaging(0.997)	p.H388N	NM_002016	NP_002007			1	FILA_HUMAN	FLG	HGNC	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN		3	1198	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000470CB3	388			Ser-rich.|Filaggrin 2.		SNV	FLG,missense_variant,p.His388Asn,ENST00000368799,NM_002016.1;FLG-AS1,non_coding_transcript_exon_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	uc001ezu.1	c.1162C>A	1198/12747	2	2			c.1162C>A						1	SNP	c.(1162-1164)CAC>AAC	41	41			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Broad	filaggrin			152286200	Ichthyosis	0.577	ENSG00000143631	5819	g.chr1:152286200G>T	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity							546.089645	KEEP	90	122	0.424528302	151	212	90	122	0.424528302	554.696472	151	212	0.363289	1	0	0	0	0	1	0	0	0	--	--		0	T			uc001ezv.2_RNA	65	GBM-06-0743-TP	p.H388N	G	GACTGCTGGTGGCCGGATCCA	NM_002016	NP_002007	152286200	P20930	FILA_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1198	-	T	T	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	388			Ser-rich.|Filaggrin 2.			
FLG	2312	broad.mit.edu	GRCh37	1	152276886	152276886	+	synonymous_variant	Silent	SNP	G	G	A	rs144901359		TCGA-06-0749-01	TCGA-06-0749-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368799.1:c.10476C>T	p.Asp3492=	p.D3492=	ENST00000368799	NM_002016.1	3492	gaC/gaT	0	A:0.0002		1			A	D	uc001ezu.1	protein_coding	YES	CCDS30860.1			10476/12186								p.D3492Y(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	c.(10474-10476)GAC>GAT				filaggrin			A:0	ENSP00000357789		3-Mar	0.000157	0.000288	0.000259	0.000462		0.000135			rs144901359,COSM2151873	3-Mar	common_variant	Ichthyosis	ENST00000368799	Transcript	1		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	ENSG00000143631	g.chr1:152276886G>A	3748			LOW								--	--	1																																			0,1	1			p.D3492D	NM_002016	NP_002007			0,1	FILA_HUMAN	FLG	HGNC	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN		3	10512	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000470CB3	3492			Ser-rich.		SNV	FLG,synonymous_variant,p.=,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	uc001ezu.1	c.10476C>T	10512/12747	1	1			c.10476C>T						1	SNP	c.(10474-10476)GAC>GAT	63	63		p.D3492Y(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Broad	filaggrin			152276886	Ichthyosis	0.567	ENSG00000143631	5819	g.chr1:152276886G>A	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity							401.134421	KEEP	100	54	-1	247	134	100	54	-1	421.531921	247	134	0.289062	1	0	0	0	0	0	0	1	0	--	--		0	A				69	GBM-06-0749-TP	p.D3492D	G	CTGATTGTTCGTCATTACGAG	NM_002016	NP_002007	152276886	P20930	FILA_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10512	-	A	A	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Silent	3492			Ser-rich.			
FLG	2312	broad.mit.edu	GRCh37	1	152281389	152281389	+	synonymous_variant	Silent	SNP	C	C	T	rs138652718	byFrequency	TCGA-06-0750-01	TCGA-06-0750-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368799.1:c.5973G>A	p.Ala1991=	p.A1991=	ENST00000368799	NM_002016.1	1991	gcG/gcA	0	T:0.0066	T:0.0053	1	T:0.0029		T	A	uc001ezu.1	protein_coding	YES	CCDS30860.1			5973/12186									ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	c.(5971-5973)GCG>GCA			hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21	filaggrin		T:0	T:0	ENSP00000357789	T:0	3-Mar	0.00056	0.00509	0.000518	0.000231		3.00E-05		0.000303	rs138652718,COSM2151932	3-Mar	common_variant	Ichthyosis	ENST00000368799	Transcript	1	T:0.0018	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	ENSG00000143631	g.chr1:152281389C>T	3748			LOW								--	--	1																																			0,1	1			p.A1991A	NM_002016	NP_002007	T:0		0,1	FILA_HUMAN	FLG	HGNC	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN		3	6009	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000470CB3	1991			Ser-rich.		SNV	FLG,synonymous_variant,p.=,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	uc001ezu.1	c.5973G>A	6009/12747	2	2			c.5973G>A						1	SNP	c.(5971-5973)GCG>GCA	33	33			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Broad	filaggrin			152281389	Ichthyosis	0.572	ENSG00000143631	5819	g.chr1:152281389C>T	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity							450.909942	KEEP	135	92	-1	448	323	135	92	-1	511.303123	448	323	0.228443	1	0	0	0	0	0	0	1	0	--	--		0	T				70	GBM-06-0750-TP	p.A1991A	C	CATGGGATGACGCAGCCTGTC	NM_002016	NP_002007	152281389	P20930	FILA_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6009	-	T	T	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Silent	1991			Ser-rich.			
FLG	2312	broad.mit.edu	GRCh37	1	152282713	152282713	+	stop_gained	Nonsense_Mutation	SNP	G	G	C			TCGA-06-0875-01	TCGA-06-0875-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368799.1:c.4649C>G	p.Ser1550Ter	p.S1550*	ENST00000368799	NM_002016.1	1550	tCa/tGa	0			1			C	S/*	uc001ezu.1	protein_coding	YES	CCDS30860.1			4649/12186									ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	c.(4648-4650)TCA>TGA			Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21	filaggrin				ENSP00000357789		3-Mar									COSM2152041	3-Mar	.	Ichthyosis	ENST00000368799	Transcript	1		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	ENSG00000143631	g.chr1:152282713G>C	3748			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,152282713,G,C&fts=all	S1550*	--	--	1																																			1	1			p.S1550*	NM_002016	NP_002007			1	FILA_HUMAN	FLG	HGNC	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN		3	4685	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000470CB3	1550			Ser-rich.		SNV	FLG,stop_gained,p.Ser1550Ter,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	uc001ezu.1	c.4649C>G	4685/12747	5	3			c.4649C>G						1	SNP	c.(4648-4650)TCA>TGA	2	2			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Broad	filaggrin			152282713	Ichthyosis	0.592	ENSG00000143631	5819	g.chr1:152282713G>C	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity							835.58486	KEEP	138	115	-1	250	163	138	115	-1	843.065828	250	163	0.383886	1	0	0	0	0	0	1	0	0	--	--		0	C				71	GBM-06-0875-TP	p.S1550*	G	GCCGTCTCCTGATTGTTCCTC	NM_002016	NP_002007	152282713	P20930	FILA_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4685	-	C	C	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Nonsense_Mutation	1550			Ser-rich.			
FLG	2312	broad.mit.edu	GRCh37	1	152275641	152275641	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-1804-01	TCGA-06-1804-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368799.1:c.11721C>T	p.Arg3907=	p.R3907=	ENST00000368799	NM_002016.1	3907	cgC/cgT	0	A:0.0002		1			A	R	uc001ezu.1	protein_coding	YES	CCDS30860.1			11721/12186									ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	c.(11719-11721)CGC>CGT				filaggrin			A:0	ENSP00000357789		3-Mar	0.000115	0.000192		0.000116		4.50E-05		0.000484	rs374091552,COSM896077	3-Mar	common_variant	Ichthyosis	ENST00000368799	Transcript	1		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	ENSG00000143631	g.chr1:152275641G>A	3748			LOW								--	--	1																																			0,1	1			p.R3907R	NM_002016	NP_002007			0,1	FILA_HUMAN	FLG	HGNC	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN		3	11757	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000470CB3	3907			Ser-rich.		SNV	FLG,synonymous_variant,p.=,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	uc001ezu.1	c.11721C>T	11757/12747	1	1			c.11721C>T						1	SNP	c.(11719-11721)CGC>CGT	64	64			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Broad	filaggrin			152275641	Ichthyosis	0.502	ENSG00000143631	5819	g.chr1:152275641G>A	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity							104.462476	KEEP	20	18	-1	39	30	20	18	-1	106.043056	39	30	0.366337	1	0	0	0	0	0	0	1	0	--	--		0	A				79	GBM-06-1804-TP	p.R3907R	G	TGGCTGTATCGCGGTGAGAGG	NM_002016	NP_002007	152275641	P20930	FILA_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11757	-	A	A	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Silent	3907			Ser-rich.			
FLG	2312	broad.mit.edu	GRCh37	1	152278655	152278655	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01	TCGA-06-2570-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368799.1:c.8707G>A	p.Asp2903Asn	p.D2903N	ENST00000368799	NM_002016.1	2903	Gac/Aac	0			1			T	D/N	uc001ezu.1	protein_coding	YES	CCDS30860.1			8707/12186									ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	c.(8707-8709)GAC>AAC			Low_complexity_(Seg):seg	filaggrin				ENSP00000357789		3-Mar									COSM2153109	3-Mar	.	Ichthyosis	ENST00000368799	Transcript	1		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	ENSG00000143631	g.chr1:152278655C>T	3748			MODERATE		2.32	medium	getma.org/?cm=msa&ty=f&p=FILA_HUMAN&rb=2901&re=2967&var=D2903N	NA	getma.org/?cm=var&var=hg19,1,152278655,C,T&fts=all	D2903N	--	--	1																																			1	1		benign(0.095)	p.D2903N	NM_002016	NP_002007			1	FILA_HUMAN	FLG	HGNC	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN		3	8743	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000470CB3	2903			Ser-rich.		SNV	FLG,missense_variant,p.Asp2903Asn,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	uc001ezu.1	c.8707G>A	8743/12747	2	2			c.8707G>A						1	SNP	c.(8707-8709)GAC>AAC	24	24			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Broad	filaggrin			152278655	Ichthyosis	0.562	ENSG00000143631	5819	g.chr1:152278655C>T	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity							297.299331	KEEP	99	100	-1	391	409	99	100	-1	340.199781	391	409	0.215652	1	0	0	0	0	1	0	0	0	--	--		0	T				91	GBM-06-2570-TP	p.D2903N	C	CTCTCAGAGTCTTCTGAATGT	NM_002016	NP_002007	152278655	P20930	FILA_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8743	-	T	T	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	2903			Ser-rich.			
FLG	0	broad.mit.edu	GRCh37	1	152278705	152278705	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01	TCGA-12-0615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368799.1:c.8657G>A	p.Arg2886His	p.R2886H	ENST00000368799	NM_002016.1	2886	cGc/cAc	0	T:0		1			T	R/H	uc001ezu.1	protein_coding	YES	CCDS30860.1			8657/12186									ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	c.(8656-8658)CGC>CAC			Low_complexity_(Seg):seg,Pfam_domain:PF03516	filaggrin			T:0.0001	ENSP00000357789		3-Mar	0.000811	0.000679	0.000605	0.00127	0.000907	0.00051	0.0011	0.002	rs369659011,COSM3399725	3-Mar	common_variant	Ichthyosis	ENST00000368799	Transcript	1		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	ENSG00000143631	g.chr1:152278705C>T	3748			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=FILA_HUMAN&rb=2849&re=2900&var=R2886H	NA	getma.org/?cm=var&var=hg19,1,152278705,C,T&fts=all	R2886H	--	--	1																																			0,1	1		possibly_damaging(0.498)	p.R2886H	NM_002016	NP_002007			0,1	FILA_HUMAN	FLG	HGNC	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN		3	8693	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000470CB3	2886			Ser-rich.|Filaggrin 17.		SNV	FLG,missense_variant,p.Arg2886His,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	uc001ezu.1	c.8657G>A	8693/12747	2	2			c.8657G>A						1	SNP	c.(8656-8658)CGC>CAC	30	30			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Broad	filaggrin			152278705	Ichthyosis	0.562	ENSG00000143631	5819	g.chr1:152278705C>T	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity							93.118974	KEEP	70	52	-1	431	446	70	52	-1	146.056529	431	446	0.142191	1	0	0	0	0	1	0	0	0	--	--		0	T				117	GBM-12-0615-TP	p.R2886H	C	GGATCCCTGGCGCCTGCTTCT	NM_002016	NP_002007	152278705	P20930	FILA_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8693	-	T	T	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	2886			Ser-rich.|Filaggrin 17.			
FLG	0	broad.mit.edu	GRCh37	1	152284952	152284952	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-16-0861-01	TCGA-16-0861-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368799.1:c.2410G>T	p.Glu804Ter	p.E804*	ENST00000368799	NM_002016.1	804	Gag/Tag	0			1			A	E/*	uc001ezu.1	protein_coding	YES	CCDS30860.1			2410/12186									ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	c.(2410-2412)GAG>TAG			hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21,Prints_domain:PR00487	filaggrin				ENSP00000357789		3-Mar									COSM3399738	3-Mar	.	Ichthyosis	ENST00000368799	Transcript	1		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	ENSG00000143631	g.chr1:152284952C>A	3748			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,152284952,C,A&fts=all	E804*	--	--	1																																		uc001ezv.2_5'Flank	1	1			p.E804*	NM_002016	NP_002007			1	FILA_HUMAN	FLG	HGNC	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN		3	2446	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000470CB3	804			Ser-rich.		SNV	FLG,stop_gained,p.Glu804Ter,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	uc001ezu.1	c.2410G>T	2446/12747	5	2			c.2410G>T						1	SNP	c.(2410-2412)GAG>TAG	42	42			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Broad	filaggrin			152284952	Ichthyosis	0.572	ENSG00000143631	5819	g.chr1:152284952C>A	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity							592.229294	KEEP	120	100	0.454545455	184	134	120	100	0.454545455	595.028956	184	134	0.42	1	0	0	0	0	0	1	0	0	--	--		0	A			uc001ezv.2_5'Flank	156	GBM-16-0861-TP	p.E804*	C	TGGGAGGACTCAGACTGTTTA	NM_002016	NP_002007	152284952	P20930	FILA_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2446	-	A	A	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Nonsense_Mutation	804			Ser-rich.			
FLG	0	broad.mit.edu	GRCh37	1	152283564	152283564	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-2623-01	TCGA-19-2623-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368799.1:c.3798G>T	p.Gln1266His	p.Q1266H	ENST00000368799	NM_002016.1	1266	caG/caT	0			1			A	Q/H	uc001ezu.1	protein_coding	YES	CCDS30860.1			3798/12186									ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	c.(3796-3798)CAG>CAT			hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21,Pfam_domain:PF03516	filaggrin				ENSP00000357789		3-Mar									COSM3399736	3-Mar	.	Ichthyosis	ENST00000368799	Transcript	1		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	ENSG00000143631	g.chr1:152283564C>A	3748			MODERATE		2.075	medium	getma.org/?cm=msa&ty=f&p=FILA_HUMAN&rb=1228&re=1279&var=Q1266H	NA	getma.org/?cm=var&var=hg19,1,152283564,C,A&fts=all	Q1266H	--	--	1																																		uc001ezv.2_5'Flank	1	1		possibly_damaging(0.522)	p.Q1266H	NM_002016	NP_002007			1	FILA_HUMAN	FLG	HGNC	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN		3	3834	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000470CB3	1266			Ser-rich.|Filaggrin 7.		SNV	FLG,missense_variant,p.Gln1266His,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	uc001ezu.1	c.3798G>T	3834/12747	1	1			c.3798G>T						1	SNP	c.(3796-3798)CAG>CAT	50	50			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Broad	filaggrin			152283564	Ichthyosis	0.488	ENSG00000143631	5819	g.chr1:152283564C>A	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity							-91.318963	KEEP	8	2	0.2	225	228	8	2	0.2	15.652294	225	228	0.021531	1	0	0	0	0	1	0	0	0	--	--		0	A			uc001ezv.2_5'Flank	163	GBM-19-2623-TP	p.Q1266H	C	CACTGGATCCCTGGTGCCTGC	NM_002016	NP_002007	152283564	P20930	FILA_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3834	-	A	A	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	1266			Ser-rich.|Filaggrin 7.			
FLG	0	broad.mit.edu	GRCh37	1	152276552	152276552	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01	TCGA-19-5954-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368799.1:c.10810G>A	p.Glu3604Lys	p.E3604K	ENST00000368799	NM_002016.1	3604	Gag/Aag	0			1			T	E/K	uc001ezu.1	protein_coding	YES	CCDS30860.1			10810/12186									ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	c.(10810-10812)GAG>AAG				filaggrin				ENSP00000357789		3-Mar									COSM3399722	3-Mar	.	Ichthyosis	ENST00000368799	Transcript	1		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	ENSG00000143631	g.chr1:152276552C>T	3748			MODERATE		2.075	medium	getma.org/?cm=msa&ty=f&p=FILA_HUMAN&rb=3549&re=3615&var=E3604K	NA	getma.org/?cm=var&var=hg19,1,152276552,C,T&fts=all	E3604K	--	--	1																																			1	1		unknown(0)	p.E3604K	NM_002016	NP_002007			1	FILA_HUMAN	FLG	HGNC	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN		3	10846	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000470CB3	3604			Ser-rich.		SNV	FLG,missense_variant,p.Glu3604Lys,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	uc001ezu.1	c.10810G>A	10846/12747	1	1			c.10810G>A						1	SNP	c.(10810-10812)GAG>AAG	16	16			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Broad	filaggrin			152276552	Ichthyosis	0.562	ENSG00000143631	5819	g.chr1:152276552C>T	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity							75.328852	KEEP	36	55	-1	242	247	36	55	-1	121.886161	242	247	0.12931	1	0	0	0	0	1	0	0	0	--	--		0	T				174	GBM-19-5954-TP	p.E3604K	C	GAGGAATTCTCTGCATGATGA	NM_002016	NP_002007	152276552	P20930	FILA_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10846	-	T	T	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	3604			Ser-rich.			
FLG	0	broad.mit.edu	GRCh37	1	152286487	152286487	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01	TCGA-27-1834-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368799.1:c.875G>A	p.Arg292His	p.R292H	ENST00000368799	NM_002016.1	292	cGt/cAt	0	T:0	T:0	1	T:0		T	R/H	uc001ezu.1	protein_coding	YES	CCDS30860.1			875/12186									ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	c.(874-876)CGT>CAT			hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21,Pfam_domain:PF03516,Prints_domain:PR00487	filaggrin		T:0.001	T:0.0001	ENSP00000357789	T:0	3-Mar	0.000124			0.000231		0.000135		0.000242	rs200504242,COSM3399745	3-Mar	.	Ichthyosis	ENST00000368799	Transcript	1	T:0.0002	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	ENSG00000143631	g.chr1:152286487C>T	3748			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=FILA_HUMAN&rb=258&re=306&var=R292H	NA	getma.org/?cm=var&var=hg19,1,152286487,C,T&fts=all	R292H	--	--	1																																		uc001ezv.2_RNA	0,1	1		benign(0.223)	p.R292H	NM_002016	NP_002007	T:0		0,1	FILA_HUMAN	FLG	HGNC	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN		3	911	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000470CB3	292			Filaggrin 1.|Ser-rich.		SNV	FLG,missense_variant,p.Arg292His,ENST00000368799,NM_002016.1;FLG-AS1,non_coding_transcript_exon_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	uc001ezu.1	c.875G>A	911/12747	2	2			c.875G>A						1	SNP	c.(874-876)CGT>CAT	42	42			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Broad	filaggrin			152286487	Ichthyosis	0.502	ENSG00000143631	5819	g.chr1:152286487C>T	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity							-131.286672	KEEP	4	4	-1	306	292	4	4	-1	12.293431	306	292	0.014898	1	0	0	0	0	1	0	0	0	--	--		0	T			uc001ezv.2_RNA	193	GBM-27-1834-TP	p.R292H	C	GGATCCCCTACGCTTTCTTGT	NM_002016	NP_002007	152286487	P20930	FILA_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	911	-	T	T	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	292			Filaggrin 1.|Ser-rich.			
FLG	0	broad.mit.edu	GRCh37	1	152277058	152277058	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01	TCGA-28-2502-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368799.1:c.10304G>A	p.Arg3435His	p.R3435H	ENST00000368799	NM_002016.1	3435	cGt/cAt	0		T:0	1	T:0		T	R/H	uc001ezu.1	protein_coding	YES	CCDS30860.1			10304/12186									ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	c.(10303-10305)CGT>CAT				filaggrin		T:0		ENSP00000357789	T:0.001	3-Mar	2.47E-05					3.00E-05		6.07E-05	rs576274425,COSM3399724	3-Mar	.	Ichthyosis	ENST00000368799	Transcript	1	T:0.0002	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	ENSG00000143631	g.chr1:152277058C>T	3748			MODERATE		1.43	low	getma.org/?cm=msa&ty=f&p=FILA_HUMAN&rb=3347&re=3496&var=R3435H	NA	getma.org/?cm=var&var=hg19,1,152277058,C,T&fts=all	R3435H	--	--	1																																			0,1	1		unknown(0)	p.R3435H	NM_002016	NP_002007	T:0		0,1	FILA_HUMAN	FLG	HGNC	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN		3	10340	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000470CB3	3435			Ser-rich.		SNV	FLG,missense_variant,p.Arg3435His,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	uc001ezu.1	c.10304G>A	10340/12747	1	1			c.10304G>A						1	SNP	c.(10303-10305)CGT>CAT	8	8			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Broad	filaggrin			152277058	Ichthyosis	0.602	ENSG00000143631	5819	g.chr1:152277058C>T	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity							367.064714	KEEP	136	49	-1	363	194	136	49	-1	402.745193	363	194	0.246305	1	0	0	0	0	1	0	0	0	--	--		0	T				210	GBM-28-2502-TP	p.R3435H	C	CGGGTGTCCACGAATGGTGTC	NM_002016	NP_002007	152277058	P20930	FILA_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10340	-	T	T	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	3435			Ser-rich.			
FLG	0	broad.mit.edu	GRCh37	1	152275656	152275656	+	synonymous_variant	Silent	SNP	G	G	A	rs147335121		TCGA-28-2513-01	TCGA-28-2513-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368799.1:c.11706C>T	p.Pro3902=	p.P3902=	ENST00000368799	NM_002016.1	3902	ccC/ccT	0	A:0.0002		1			A	P	uc001ezu.1	protein_coding	YES	CCDS30860.1			11706/12186									ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	c.(11704-11706)CCC>CCT				filaggrin			A:0.0001	ENSP00000357789		3-Mar	8.24E-06	9.61E-05							rs147335121,COSM3369285	3-Mar	.	Ichthyosis	ENST00000368799	Transcript	1		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	ENSG00000143631	g.chr1:152275656G>A	3748			LOW								--	--	1																																			0,1	1			p.P3902P	NM_002016	NP_002007			0,1	FILA_HUMAN	FLG	HGNC	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN		3	11742	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000470CB3	3902			Ser-rich.		SNV	FLG,synonymous_variant,p.=,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	uc001ezu.1	c.11706C>T	11742/12747	2	2			c.11706C>T						1	SNP	c.(11704-11706)CCC>CCT	43	43			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Broad	filaggrin			152275656	Ichthyosis	0.517	ENSG00000143631	5819	g.chr1:152275656G>A	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity							37.100148	KEEP	10	13	-1	52	67	10	13	-1	51.717547	52	67	0.159091	1	0	0	0	0	0	0	1	0	--	--		0	A				213	GBM-28-2513-TP	p.P3902P	G	GAGAGGATCCGGGGTGTCTGG	NM_002016	NP_002007	152275656	P20930	FILA_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11742	-	A	A	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Silent	3902			Ser-rich.			
FLG	0	broad.mit.edu	GRCh37	1	152278705	152278705	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5211-01	TCGA-28-5211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368799.1:c.8657G>A	p.Arg2886His	p.R2886H	ENST00000368799	NM_002016.1	2886	cGc/cAc	0	T:0		1			T	R/H	uc001ezu.1	protein_coding	YES	CCDS30860.1			8657/12186									ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	c.(8656-8658)CGC>CAC			Low_complexity_(Seg):seg,Pfam_domain:PF03516	filaggrin			T:0.0001	ENSP00000357789		3-Mar	0.000811	0.000679	0.000605	0.00127	0.000907	0.00051	0.0011	0.002	rs369659011,COSM3399725	3-Mar	common_variant	Ichthyosis	ENST00000368799	Transcript	1		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	ENSG00000143631	g.chr1:152278705C>T	3748			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=FILA_HUMAN&rb=2849&re=2900&var=R2886H	NA	getma.org/?cm=var&var=hg19,1,152278705,C,T&fts=all	R2886H	--	--	1																																			0,1	1		possibly_damaging(0.498)	p.R2886H	NM_002016	NP_002007			0,1	FILA_HUMAN	FLG	HGNC	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN		3	8693	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000470CB3	2886			Ser-rich.|Filaggrin 17.		SNV	FLG,missense_variant,p.Arg2886His,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	uc001ezu.1	c.8657G>A	8693/12747	2	2			c.8657G>A						1	SNP	c.(8656-8658)CGC>CAC	30	30			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Broad	filaggrin			152278705	Ichthyosis	0.562	ENSG00000143631	5819	g.chr1:152278705C>T	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity							-2.520426	KEEP	34	30	-1	309	239	34	30	-1	45.529186	309	239	0.110063	1	0	0	0	0	1	0	0	0	--	--		0	T				219	GBM-28-5211-TP	p.R2886H	C	GGATCCCTGGCGCCTGCTTCT	NM_002016	NP_002007	152278705	P20930	FILA_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8693	-	T	T	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	2886			Ser-rich.|Filaggrin 17.			
FLG	0	broad.mit.edu	GRCh37	1	152280977	152280977	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-5214-01	TCGA-28-5214-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368799.1:c.6385T>C	p.Ser2129Pro	p.S2129P	ENST00000368799	NM_002016.1	2129	Tca/Cca	0			1			G	S/P	uc001ezu.1	protein_coding	YES	CCDS30860.1			6385/12186									ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	c.(6385-6387)TCA>CCA				filaggrin				ENSP00000357789		3-Mar									COSM3399729	3-Mar	.	Ichthyosis	ENST00000368799	Transcript	1		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	ENSG00000143631	g.chr1:152280977A>G	3748			MODERATE		2.505	medium	getma.org/?cm=msa&ty=f&p=FILA_HUMAN&rb=2051&re=2200&var=S2129P	NA	getma.org/?cm=var&var=hg19,1,152280977,A,G&fts=all	S2129P	--	--	1																																			1	1		benign(0.307)	p.S2129P	NM_002016	NP_002007			1	FILA_HUMAN	FLG	HGNC	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN		3	6421	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000470CB3	2129			Ser-rich.		SNV	FLG,missense_variant,p.Ser2129Pro,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	uc001ezu.1	c.6385T>C	6421/12747	3	3			c.6385T>C						1	SNP	c.(6385-6387)TCA>CCA	61	61			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Broad	filaggrin			152280977	Ichthyosis	0.572	ENSG00000143631	5819	g.chr1:152280977A>G	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity							-166.144889	KEEP	7	3	-1	429	383	7	3	-1	16.190223	429	383	0.014749	1	0	0	0	0	1	0	0	0	--	--		0	G				221	GBM-28-5214-TP	p.S2129P	A	TGGGATGCTGAGTGCCTGGAG	NM_002016	NP_002007	152280977	P20930	FILA_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6421	-	G	G	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	2129			Ser-rich.			
FLG	0	broad.mit.edu	GRCh37	1	152282616	152282616	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-5214-01	TCGA-28-5214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368799.1:c.4746G>A	p.Ala1582=	p.A1582=	ENST00000368799	NM_002016.1	1582	gcG/gcA	0		T:0.0008	1	T:0		T	A	uc001ezu.1	protein_coding	YES	CCDS30860.1			4746/12186									ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	c.(4744-4746)GCG>GCA			hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21,Pfam_domain:PF03516	filaggrin		T:0		ENSP00000357789	T:0	3-Mar	0.000115	9.61E-05				0.00018	0.0011		rs201688513,COSM3399732	3-Mar	.	Ichthyosis	ENST00000368799	Transcript	1	T:0.0002	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	ENSG00000143631	g.chr1:152282616C>T	3748			LOW								--	--	1																																			0,1	1			p.A1582A	NM_002016	NP_002007	T:0		0,1	FILA_HUMAN	FLG	HGNC	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN		3	4782	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000470CB3	1582			Ser-rich.|Filaggrin 9.		SNV	FLG,synonymous_variant,p.=,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	uc001ezu.1	c.4746G>A	4782/12747	2	2			c.4746G>A						1	SNP	c.(4744-4746)GCG>GCA	48	48			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Broad	filaggrin			152282616	Ichthyosis	0.602	ENSG00000143631	5819	g.chr1:152282616C>T	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity							-99.301199	KEEP	4	7	-1	240	245	4	7	-1	14.333175	240	245	0.020408	1	0	0	0	0	0	0	1	0	--	--		0	T				221	GBM-28-5214-TP	p.A1582A	C	TCTTGGACCCCGCTGATTCTC	NM_002016	NP_002007	152282616	P20930	FILA_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4782	-	T	T	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Silent	1582			Ser-rich.|Filaggrin 9.			
FLG	0	broad.mit.edu	GRCh37	1	152285965	152285965	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-28-6450-01	TCGA-28-6450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368799.1:c.1397G>T	p.Gly466Val	p.G466V	ENST00000368799	NM_002016.1	466	gGg/gTg	0			1			A	G/V	uc001ezu.1	protein_coding	YES	CCDS30860.1			1397/12186									ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	c.(1396-1398)GGG>GTG			Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21	filaggrin				ENSP00000357789		3-Mar									COSM3399742	3-Mar	.	Ichthyosis	ENST00000368799	Transcript	1		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	ENSG00000143631	g.chr1:152285965C>A	3748			MODERATE		2	medium	getma.org/?cm=msa&ty=f&p=FILA_HUMAN&rb=429&re=578&var=G466V	NA	getma.org/?cm=var&var=hg19,1,152285965,C,A&fts=all	G466V	--	--	1																																		uc001ezv.2_RNA	1	1		probably_damaging(0.986)	p.G466V	NM_002016	NP_002007			1	FILA_HUMAN	FLG	HGNC	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN		3	1433	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000470CB3	466			Ser-rich.		SNV	FLG,missense_variant,p.Gly466Val,ENST00000368799,NM_002016.1;FLG-AS1,non_coding_transcript_exon_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	uc001ezu.1	c.1397G>T	1433/12747	2	2			c.1397G>T						1	SNP	c.(1396-1398)GGG>GTG	34	34			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Broad	filaggrin			152285965	Ichthyosis	0.607	ENSG00000143631	5819	g.chr1:152285965C>A	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity							162.953929	KEEP	35	34	0.492753623	64	65	35	34	0.492753623	167.390495	64	65	0.331461	1	0	0	0	0	1	0	0	0	--	--		0	A			uc001ezv.2_RNA	227	GBM-28-6450-TP	p.G466V	C	GAGGGAAGACCCTGAACGTCC	NM_002016	NP_002007	152285965	P20930	FILA_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1433	-	A	A	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	466			Ser-rich.			
FLG	0	broad.mit.edu	GRCh37	1	152283084	152283084	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1977-01	TCGA-32-1977-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368799.1:c.4278C>T	p.Ser1426=	p.S1426=	ENST00000368799	NM_002016.1	1426	tcC/tcT	0	A:0		1			A	S	uc001ezu.1	protein_coding	YES	CCDS30860.1			4278/12186									ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	c.(4276-4278)TCC>TCT			Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21	filaggrin			A:0.0001	ENSP00000357789		3-Mar	2.47E-05					3.00E-05		6.06E-05	rs375923587,COSM3399733	3-Mar	.	Ichthyosis	ENST00000368799	Transcript	1		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	ENSG00000143631	g.chr1:152283084G>A	3748			LOW								--	--	1																																		uc001ezv.2_5'Flank	0,1	1			p.S1426S	NM_002016	NP_002007			0,1	FILA_HUMAN	FLG	HGNC	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN		3	4314	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000470CB3	1426			Ser-rich.		SNV	FLG,synonymous_variant,p.=,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	uc001ezu.1	c.4278C>T	4314/12747	2	2			c.4278C>T						1	SNP	c.(4276-4278)TCC>TCT	28	28			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Broad	filaggrin			152283084	Ichthyosis	0.557	ENSG00000143631	5819	g.chr1:152283084G>A	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity							206.546928	KEEP	33	59	-1	146	191	33	59	-1	233.565718	146	191	0.223377	1	0	0	0	0	0	0	1	0	--	--		0	A			uc001ezv.2_5'Flank	229	GBM-32-1977-TP	p.S1426S	G	GGCCACGTGCGGACTCTTTGT	NM_002016	NP_002007	152283084	P20930	FILA_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4314	-	A	A	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Silent	1426			Ser-rich.			
FLG	0	broad.mit.edu	GRCh37	1	152278815	152278815	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368799.1:c.8547C>T	p.Asp2849=	p.D2849=	ENST00000368799	NM_002016.1	2849	gaC/gaT	0	A:0.0005		1			A	D	uc001ezu.1	protein_coding	YES	CCDS30860.1			8547/12186									ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	c.(8545-8547)GAC>GAT			Low_complexity_(Seg):seg,Pfam_domain:PF03516	filaggrin			A:0.0001	ENSP00000357789		3-Mar	0.000173	0.00032	0.000432	0.000462		0.000135			rs200790612,COSM2185081	3-Mar	common_variant	Ichthyosis	ENST00000368799	Transcript	1		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	ENSG00000143631	g.chr1:152278815G>A	3748			LOW								--	--	1																																			0,1	1			p.D2849D	NM_002016	NP_002007			0,1	FILA_HUMAN	FLG	HGNC	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN		3	8583	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000470CB3	2849			Ser-rich.|Filaggrin 17.		SNV	FLG,synonymous_variant,p.=,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	uc001ezu.1	c.8547C>T	8583/12747	2	2			c.8547C>T						1	SNP	c.(8545-8547)GAC>GAT	32	32			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Broad	filaggrin			152278815	Ichthyosis	0.567	ENSG00000143631	5819	g.chr1:152278815G>A	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity							239.802544	KEEP	84	62	-1	492	359	84	62	-1	343.160021	492	359	0.153931	1	0	0	0	0	0	0	1	0	--	--		0	A				240	GBM-32-2632-TP	p.D2849D	G	GCCTGGAGCCGTCTCCTGATT	NM_002016	NP_002007	152278815	P20930	FILA_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8583	-	A	A	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Silent	2849			Ser-rich.|Filaggrin 17.			
FLG	0	broad.mit.edu	GRCh37	1	152280892	152280892	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368799.1:c.6470C>T	p.Ser2157Leu	p.S2157L	ENST00000368799	NM_002016.1	2157	tCg/tTg	0			1			A	S/L	uc001ezu.1	protein_coding	YES	CCDS30860.1			6470/12186									ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	c.(6469-6471)TCG>TTG				filaggrin				ENSP00000357789		3-Mar	2.47E-05		8.64E-05			1.50E-05		6.06E-05	rs761306814,COSM1159310	3-Mar	.	Ichthyosis	ENST00000368799	Transcript	1		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	ENSG00000143631	g.chr1:152280892G>A	3748			MODERATE		1.725	low	getma.org/?cm=msa&ty=f&p=FILA_HUMAN&rb=2051&re=2200&var=S2157L	NA	getma.org/?cm=var&var=hg19,1,152280892,G,A&fts=all	S2157L	--	--	1																																			0,1	1		benign(0.32)	p.S2157L	NM_002016	NP_002007			0,1	FILA_HUMAN	FLG	HGNC	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN		3	6506	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000470CB3	2157			Ser-rich.		SNV	FLG,missense_variant,p.Ser2157Leu,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	uc001ezu.1	c.6470C>T	6506/12747	1	1			c.6470C>T						1	SNP	c.(6469-6471)TCG>TTG	49	49			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Broad	filaggrin			152280892	Ichthyosis	0.597	ENSG00000143631	5819	g.chr1:152280892G>A	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity							817.067588	KEEP	150	152	-1	333	216	150	152	-1	830.910429	333	216	0.359039	1	0	0	0	0	1	0	0	0	--	--		0	A				240	GBM-32-2632-TP	p.S2157L	G	CCTATCTACCGATTGCTCTTG	NM_002016	NP_002007	152280892	P20930	FILA_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6506	-	A	A	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	2157			Ser-rich.			
FLG	0	broad.mit.edu	GRCh37	1	152282534	152282534	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-2575-01	TCGA-41-2575-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368799.1:c.4828C>T	p.Arg1610Trp	p.R1610W	ENST00000368799	NM_002016.1	1610	Cgg/Tgg	0			1			A	R/W	uc001ezu.1	protein_coding	YES	CCDS30860.1			4828/12186									ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	c.(4828-4830)CGG>TGG			Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21	filaggrin				ENSP00000357789		3-Mar	9.06E-05		8.64E-05			5.99E-05		0.000363	rs560805546,COSM2206604	3-Mar	.	Ichthyosis	ENST00000368799	Transcript	1		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	ENSG00000143631	g.chr1:152282534G>A	3748			MODERATE		0.11	neutral	getma.org/?cm=msa&ty=f&p=FILA_HUMAN&rb=1604&re=1670&var=R1610W	NA	getma.org/?cm=var&var=hg19,1,152282534,G,A&fts=all	R1610W	--	--	1																																			0,1	1		possibly_damaging(0.689)	p.R1610W	NM_002016	NP_002007			0,1	FILA_HUMAN	FLG	HGNC	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN		3	4864	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000470CB3	1610			Ser-rich.		SNV	FLG,missense_variant,p.Arg1610Trp,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	uc001ezu.1	c.4828C>T	4864/12747	2	2			c.4828C>T						1	SNP	c.(4828-4830)CGG>TGG	26	26			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Broad	filaggrin			152282534	Ichthyosis	0.572	ENSG00000143631	5819	g.chr1:152282534G>A	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity							528.724441	KEEP	109	70	-1	106	86	109	70	-1	528.841089	106	86	0.52	1	0	0	0	0	1	0	0	0	--	--		0	A				253	GBM-41-2575-TP	p.R1610W	G	GACTCAGACCGCCTCTCAGAG	NM_002016	NP_002007	152282534	P20930	FILA_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4864	-	A	A	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	1610			Ser-rich.			
FLG	0	broad.mit.edu	GRCh37	1	152278815	152278815	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-3392-01	TCGA-41-3392-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368799.1:c.8547C>T	p.Asp2849=	p.D2849=	ENST00000368799	NM_002016.1	2849	gaC/gaT	0	A:0.0005		1			A	D	uc001ezu.1	protein_coding	YES	CCDS30860.1			8547/12186									ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	c.(8545-8547)GAC>GAT			Low_complexity_(Seg):seg,Pfam_domain:PF03516	filaggrin			A:0.0001	ENSP00000357789		3-Mar	0.000173	0.00032	0.000432	0.000462		0.000135			rs200790612,COSM2185081	3-Mar	common_variant	Ichthyosis	ENST00000368799	Transcript	1		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	ENSG00000143631	g.chr1:152278815G>A	3748			LOW								--	--	1																																			0,1	1			p.D2849D	NM_002016	NP_002007			0,1	FILA_HUMAN	FLG	HGNC	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN		3	8583	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000470CB3	2849			Ser-rich.|Filaggrin 17.		SNV	FLG,synonymous_variant,p.=,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	uc001ezu.1	c.8547C>T	8583/12747	2	2			c.8547C>T						1	SNP	c.(8545-8547)GAC>GAT	32	32			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Broad	filaggrin			152278815	Ichthyosis	0.567	ENSG00000143631	5819	g.chr1:152278815G>A	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity							304.789174	KEEP	106	66	-1	472	353	106	66	-1	397.329977	472	353	0.174757	1	0	0	0	0	0	0	1	0	--	--		0	A				254	GBM-41-3392-TP	p.D2849D	G	GCCTGGAGCCGTCTCCTGATT	NM_002016	NP_002007	152278815	P20930	FILA_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8583	-	A	A	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Silent	2849			Ser-rich.|Filaggrin 17.			
FLG	0	broad.mit.edu	GRCh37	1	152275826	152275826	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs143233744		TCGA-41-5651-01	TCGA-41-5651-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368799.1:c.11536G>A	p.Gly3846Ser	p.G3846S	ENST00000368799	NM_002016.1	3846	Ggc/Agc	0	T:0		1			T	G/S	uc001ezu.1	protein_coding	YES	CCDS30860.1			11536/12186									ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	c.(11536-11538)GGC>AGC			Low_complexity_(Seg):seg,Pfam_domain:PF03516	filaggrin			T:0.0001	ENSP00000357789		3-Mar	0.00014					0.000225		0.000121	rs143233744,COSM3399720	3-Mar	.	Ichthyosis	ENST00000368799	Transcript	1		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	ENSG00000143631	g.chr1:152275826C>T	3748			MODERATE		2.075	medium	getma.org/?cm=msa&ty=f&p=FILA_HUMAN&rb=3821&re=3872&var=G3846S	NA	getma.org/?cm=var&var=hg19,1,152275826,C,T&fts=all	G3846S	--	--	1																																			0,1	1		unknown(0)	p.G3846S	NM_002016	NP_002007			0,1	FILA_HUMAN	FLG	HGNC	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN		3	11572	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000470CB3	3846			Filaggrin 23.|Ser-rich.		SNV	FLG,missense_variant,p.Gly3846Ser,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	uc001ezu.1	c.11536G>A	11572/12747	2	2			c.11536G>A						1	SNP	c.(11536-11538)GGC>AGC	25	25			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Broad	filaggrin			152275826	Ichthyosis	0.592	ENSG00000143631	5819	g.chr1:152275826C>T	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity							606.71728	KEEP	90	115	-1	54	68	90	115	-1	609.900079	54	68	0.611684	1	0	0	0	0	1	0	0	0	--	--		0	T				258	GBM-41-5651-TP	p.G3846S	C	TCACCCTGGCCGGACTGTGAG	NM_002016	NP_002007	152275826	P20930	FILA_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11572	-	T	T	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	3846			Filaggrin 23.|Ser-rich.			
FLG	0	broad.mit.edu	GRCh37	1	152275878	152275878	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-5651-01	TCGA-41-5651-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368799.1:c.11484G>A	p.Ser3828=	p.S3828=	ENST00000368799	NM_002016.1	3828	tcG/tcA	0	T:0		1			T	S	uc001ezu.1	protein_coding	YES	CCDS30860.1			11484/12186									ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	c.(11482-11484)TCG>TCA			Low_complexity_(Seg):seg,Pfam_domain:PF03516	filaggrin			T:0.0002	ENSP00000357789		3-Mar	0.000321		0.000345			0.000524			rs370872906,COSM1639505	3-Mar	common_variant	Ichthyosis	ENST00000368799	Transcript	1		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	ENSG00000143631	g.chr1:152275878C>T	3748			LOW								--	--	1																																			0,1	1			p.S3828S	NM_002016	NP_002007			0,1	FILA_HUMAN	FLG	HGNC	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN		3	11520	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000470CB3	3828			Filaggrin 23.|Ser-rich.		SNV	FLG,synonymous_variant,p.=,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	uc001ezu.1	c.11484G>A	11520/12747	2	2			c.11484G>A						1	SNP	c.(11482-11484)TCG>TCA	45	45			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Broad	filaggrin			152275878	Ichthyosis	0.587	ENSG00000143631	5819	g.chr1:152275878C>T	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity							320.358725	KEEP	67	62	-1	112	149	67	62	-1	328.794024	112	149	0.337912	1	0	0	0	0	0	0	1	0	--	--		0	T				258	GBM-41-5651-TP	p.S3828S	C	CATGGTGACGCGACCCTGAGT	NM_002016	NP_002007	152275878	P20930	FILA_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11520	-	T	T	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Silent	3828			Filaggrin 23.|Ser-rich.			
FLG	0	broad.mit.edu	GRCh37	1	152285914	152285914	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-4928-01	TCGA-76-4928-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368799.1:c.1448G>T	p.Gly483Val	p.G483V	ENST00000368799	NM_002016.1	483	gGa/gTa	0			1			A	G/V	uc001ezu.1	protein_coding	YES	CCDS30860.1			1448/12186									ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	c.(1447-1449)GGA>GTA			Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21	filaggrin				ENSP00000357789		3-Mar	1.65E-05							0.000121	rs770405587,COSM3399741	3-Mar	.	Ichthyosis	ENST00000368799	Transcript	1		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	ENSG00000143631	g.chr1:152285914C>A	3748			MODERATE		2.52	medium	getma.org/?cm=msa&ty=f&p=FILA_HUMAN&rb=429&re=578&var=G483V	NA	getma.org/?cm=var&var=hg19,1,152285914,C,A&fts=all	G483V	--	--	1																																		uc001ezv.2_5'Flank	0,1	1		probably_damaging(0.998)	p.G483V	NM_002016	NP_002007			0,1	FILA_HUMAN	FLG	HGNC	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN		3	1484	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000470CB3	483			Ser-rich.		SNV	FLG,missense_variant,p.Gly483Val,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	uc001ezu.1	c.1448G>T	1484/12747	2	2			c.1448G>T						1	SNP	c.(1447-1449)GGA>GTA	21	21			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Broad	filaggrin			152285914	Ichthyosis	0.607	ENSG00000143631	5819	g.chr1:152285914C>A	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity							57.808738	KEEP	28	34	0.548387097	250	186	28	34	0.548387097	119.430486	250	186	0.127473	1	0	0	0	0	1	0	0	0	--	--		0	A			uc001ezv.2_5'Flank	268	GBM-76-4928-TP	p.G483V	C	CCCGGTCCGTCCATGGGCAGA	NM_002016	NP_002007	152285914	P20930	FILA_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1484	-	A	A	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	483			Ser-rich.			
FLG	0	broad.mit.edu	GRCh37	1	152281686	152281686	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368799.1:c.5676C>T	p.Ala1892=	p.A1892=	ENST00000368799	NM_002016.1	1892	gcC/gcT	0	A:0.0002	C:0	1	C:0		A	A	uc001ezu.1	protein_coding	YES	CCDS30860.1			5676/12186									ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	c.(5674-5676)GCC>GCT			hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21,Pfam_domain:PF03516	filaggrin		C:0	A:0	ENSP00000357789	C:0	3-Mar	6.59E-05	9.61E-05	8.64E-05					0.000363	rs370973678,COSM3399730	3-Mar	.	Ichthyosis	ENST00000368799	Transcript	1	C:0.0004	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	ENSG00000143631	g.chr1:152281686G>A	3748			LOW								--	--	1																																			0,1	1			p.A1892A	NM_002016	NP_002007	C:0.002		0,1	FILA_HUMAN	FLG	HGNC	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN		3	5712	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000470CB3	1892			Ser-rich.|Filaggrin 11.		SNV	FLG,synonymous_variant,p.=,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	uc001ezu.1	c.5676C>T	5712/12747	2	2			c.5676C>T						1	SNP	c.(5674-5676)GCC>GCT	22	22			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Broad	filaggrin			152281686	Ichthyosis	0.572	ENSG00000143631	5819	g.chr1:152281686G>A	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity							422.87682	KEEP	106	100	-1	373	420	106	100	-1	489.04128	373	420	0.20922	1	0	0	0	0	0	0	1	0	--	--		0	A				271	GBM-76-4932-TP	p.A1892A	G	TAGAGCTGTCGGCCCGAGAGG	NM_002016	NP_002007	152281686	P20930	FILA_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5712	-	A	A	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Silent	1892			Ser-rich.|Filaggrin 11.			
FLG	2312		GRCh37	1	152285059	152285059	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000368799.1:c.2303C>T	p.Ala768Val	p.A768V	ENST00000368799	NM_002016.1	768	gCt/gTt	0																																																																																																																																																																																																																																												
FLG	2312		GRCh37	1	152284782	152284782	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000368799.1:c.2580G>A	p.Ser860=	p.S860=	ENST00000368799	NM_002016.1	860	tcG/tcA	0																																																																																																																																																																																																																																												
FLG	2312		GRCh37	1	152280065	152280065	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-2510-01	TCGA-28-2510-01																				ENST00000368799.1:c.7297A>G	p.Thr2433Ala	p.T2433A	ENST00000368799	NM_002016.1	2433	Acc/Gcc	0																																																																																																																																																																																																																																												
FLG	2312		GRCh37	1	152282565	152282565	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000368799.1:c.4797C>G	p.Asp1599Glu	p.D1599E	ENST00000368799	NM_002016.1	1599	gaC/gaG	0																																																																																																																																																																																																																																												
FLG-AS1	112268240	broad.mit.edu	GRCh37	1	152287099	152287099	+	splice_acceptor_variant,non_coding_transcript_variant	Splice_Site	SNP	G	G	T			TCGA-06-0939-01	TCGA-06-0939-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392688.2:n.581-1G>T		p.X194_splice	ENST00000392688		194		0			1			T	S/Y	uc001ezu.1	protein_coding	YES	CCDS30860.1			263/12186									ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	c.(262-264)TCT>TAT			hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	filaggrin				ENSP00000357789		3-Mar									COSM2152434	3-Mar	.	Ichthyosis	ENST00000368799	Transcript	1		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	ENSG00000143631	g.chr1:152287099G>T	3748			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=FILA_HUMAN&rb=48&re=247&var=S88Y	NA	getma.org/?cm=var&var=hg19,1,152287099,G,T&fts=all	S88Y	--	--	1																																		uc001ezv.2_Splice_Site	1	1		benign(0.014)	p.S88Y	NM_002016	NP_002007			1	FILA_HUMAN	FLG	HGNC	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN		3	299	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000470CB3	88					SNV	FLG,missense_variant,p.Ser88Tyr,ENST00000368799,NM_002016.1;FLG-AS1,splice_acceptor_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	uc001ezu.1	c.263C>A	299/12747	1	1			c.263C>A						1	SNP	c.(262-264)TCT>TAT	13	13			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Broad	filaggrin			152287099	Ichthyosis	0.358	ENSG00000143631	5819	g.chr1:152287099G>T	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity							169.562992	KEEP	35	30	0.538461538	40	57	35	30	0.538461538	170.438683	40	57	0.416667	1	0	0	0	0	1	0	0	0	--	--		0	T			uc001ezv.2_Splice_Site	78	GBM-06-0939-TP	p.S88Y	G	TTTTCTGGTAGACTCATAATA	NM_002016	NP_002007	152287099	P20930	FILA_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	299	-	T	T	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	88						
FLG2	388698	broad.mit.edu	GRCh37	1	152325713	152325713	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01	TCGA-06-0122-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388718.5:c.4549C>T	p.His1517Tyr	p.H1517Y	ENST00000388718	NM_001014342.2	1517	Cat/Tat	0			1			A	H/Y	uc001ezw.3	protein_coding	YES	CCDS30861.1			4549/7176									ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	c.(4549-4551)CAT>TAT			Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24	filaggrin family member 2				ENSP00000373370		3-Mar									COSM2149195	3-Mar	.		ENST00000388718	Transcript					calcium ion binding|structural molecule activity	ENSG00000143520	g.chr1:152325713G>A	33276			MODERATE		2.275	medium	getma.org/?cm=msa&ty=f&p=FILA2_HUMAN&rb=1141&re=1969&var=H1517Y	NA	getma.org/?cm=var&var=hg19,1,152325713,G,A&fts=all	H1517Y	--	--	1																																		uc001ezv.2_Intron	1	1		benign(0.039)	p.H1517Y	NM_001014342	NP_001014364			1	FILA2_HUMAN	FLG2	HGNC	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)				3	4622	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI00004E1DE5	1517					SNV	FLG2,missense_variant,p.His1517Tyr,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;	uc001ezw.3	c.4549C>T	4622/9124	2	2			c.4549C>T						1	SNP	c.(4549-4551)CAT>TAT	18	18			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Broad	filaggrin family member 2			152325713		0.498	ENSG00000143520	5820	g.chr1:152325713G>A			calcium ion binding|structural molecule activity							337.39111	KEEP	78	60	-1	156	81	78	60	-1	343.30391	156	81	0.361823	1	0	0	0	0	1	0	0	0	--	--		0	A			uc001ezv.2_Intron	10	GBM-06-0122-TP	p.H1517Y	G	TGTCCTGAATGTGTGTGCGAG	NM_001014342	NP_001014364	152325713	Q5D862	FILA2_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4622	-	A	A	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	1517						
FLG2	388698	broad.mit.edu	GRCh37	1	152326339	152326339	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01	TCGA-06-0126-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388718.5:c.3923G>A	p.Arg1308His	p.R1308H	ENST00000388718	NM_001014342.2	1308	cGc/cAc	0	T:0.0005	A:0	1	A:0.0014		T	R/H	uc001ezw.3	protein_coding	YES	CCDS30861.1			3923/7176									ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	c.(3922-3924)CGC>CAC			Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24	filaggrin family member 2		A:0	T:0	ENSP00000373370	A:0	3-Mar	0.000115	0.000384		0.000347		0.000105			rs201967124,COSM2149429	3-Mar	.		ENST00000388718	Transcript		A:0.0002			calcium ion binding|structural molecule activity	ENSG00000143520	g.chr1:152326339C>T	33276			MODERATE		0.16	neutral	getma.org/?cm=msa&ty=f&p=FILA2_HUMAN&rb=1141&re=1969&var=R1308H	NA	getma.org/?cm=var&var=hg19,1,152326339,C,T&fts=all	R1308H	--	--	1																																		uc001ezv.2_Intron	0,1	1		benign(0)	p.R1308H	NM_001014342	NP_001014364	A:0		0,1	FILA2_HUMAN	FLG2	HGNC	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)				3	3996	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI00004E1DE5	1308					SNV	FLG2,missense_variant,p.Arg1308His,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;	uc001ezw.3	c.3923G>A	3996/9124	2	2			c.3923G>A						1	SNP	c.(3922-3924)CGC>CAC	45	45			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Broad	filaggrin family member 2			152326339		0.473	ENSG00000143520	5820	g.chr1:152326339C>T			calcium ion binding|structural molecule activity							569.539059	KEEP	131	67	-1	199	85	131	67	-1	571.868047	199	85	0.422472	1	0	0	0	0	1	0	0	0	--	--		0	T			uc001ezv.2_Intron	13	GBM-06-0126-TP	p.R1308H	C	TTGTCTTCTGCGAACTGTGGA	NM_001014342	NP_001014364	152326339	Q5D862	FILA2_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3996	-	T	T	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	1308						
FLG2	388698	broad.mit.edu	GRCh37	1	152323312	152323312	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0743-01	TCGA-06-0743-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388718.5:c.6950A>C	p.Gln2317Pro	p.Q2317P	ENST00000388718	NM_001014342.2	2317	cAg/cCg	0			1			G	Q/P	uc001ezw.3	protein_coding	YES	CCDS30861.1			6950/7176									ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	c.(6949-6951)CAG>CCG				filaggrin family member 2				ENSP00000373370		3-Mar									COSM3399746	3-Mar	.		ENST00000388718	Transcript					calcium ion binding|structural molecule activity	ENSG00000143520	g.chr1:152323312T>G	33276			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=FILA2_HUMAN&rb=1971&re=2390&var=Q2317P	NA	getma.org/?cm=var&var=hg19,1,152323312,T,G&fts=all	Q2317P	--	--	1																																		uc001ezv.2_Intron	1	1		benign(0.153)	p.Q2317P	NM_001014342	NP_001014364			1	FILA2_HUMAN	FLG2	HGNC	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)				3	7023	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI00004E1DE5	2317					SNV	FLG2,missense_variant,p.Gln2317Pro,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;	uc001ezw.3	c.6950A>C	7023/9124	3	3			c.6950A>C						1	SNP	c.(6949-6951)CAG>CCG	13	13			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Broad	filaggrin family member 2			152323312		0.463	ENSG00000143520	5820	g.chr1:152323312T>G			calcium ion binding|structural molecule activity							371.660201	KEEP	58	76	-1	82	79	58	76	-1	372.494332	82	79	0.43985	1	0	0	0	0	1	0	0	0	--	--		0	G			uc001ezv.2_Intron	65	GBM-06-0743-TP	p.Q2317P	T	GGAACCTGTCTGTGTGGATTG	NM_001014342	NP_001014364	152323312	Q5D862	FILA2_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7023	-	G	G	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	2317						
FLG2	388698	broad.mit.edu	GRCh37	1	152325024	152325024	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-5408-01	TCGA-06-5408-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388718.5:c.5238A>G	p.Gly1746=	p.G1746=	ENST00000388718	NM_001014342.2	1746	ggA/ggG	0			1			C	G	uc001ezw.3	protein_coding	YES	CCDS30861.1			5238/7176									ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	c.(5236-5238)GGA>GGG			Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24,Prints_domain:PR00487	filaggrin family member 2				ENSP00000373370		3-Mar									COSM3399747	3-Mar	.		ENST00000388718	Transcript					calcium ion binding|structural molecule activity	ENSG00000143520	g.chr1:152325024T>C	33276			LOW								--	--	1																																		uc001ezv.2_Intron	1	1			p.G1746G	NM_001014342	NP_001014364			1	FILA2_HUMAN	FLG2	HGNC	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)				3	5311	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI00004E1DE5	1746					SNV	FLG2,synonymous_variant,p.=,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;	uc001ezw.3	c.5238A>G	5311/9124	3	3			c.5238A>G						1	SNP	c.(5236-5238)GGA>GGG	9	9			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Broad	filaggrin family member 2			152325024		0.502	ENSG00000143520	5820	g.chr1:152325024T>C			calcium ion binding|structural molecule activity							-31.898908	KEEP	14	7	-1	182	201	14	7	-1	45.64339	182	201	0.049861	1	0	0	0	0	0	0	1	0	--	--		0	C			uc001ezv.2_Intron	92	GBM-06-5408-TP	p.G1746G	T	CATGAGTGTGTCCTGAATGTG	NM_001014342	NP_001014364	152325024	Q5D862	FILA2_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5311	-	C	C	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Silent	1746						
FLG2	388698	broad.mit.edu	GRCh37	1	152326101	152326101	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-5417-01	TCGA-06-5417-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388718.5:c.4161A>G	p.Arg1387=	p.R1387=	ENST00000388718	NM_001014342.2	1387	agA/agG	0			1			C	R	uc001ezw.3	protein_coding	YES	CCDS30861.1			4161/7176									ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	c.(4159-4161)AGA>AGG			hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24	filaggrin family member 2				ENSP00000373370		3-Mar									COSM2153297	3-Mar	.		ENST00000388718	Transcript					calcium ion binding|structural molecule activity	ENSG00000143520	g.chr1:152326101T>C	33276			LOW								--	--	1																																		uc001ezv.2_Intron	1	1			p.R1387R	NM_001014342	NP_001014364			1	FILA2_HUMAN	FLG2	HGNC	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)				3	4234	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI00004E1DE5	1387					SNV	FLG2,synonymous_variant,p.=,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;	uc001ezw.3	c.4161A>G	4234/9124	3	3			c.4161A>G						1	SNP	c.(4159-4161)AGA>AGG	5	5			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Broad	filaggrin family member 2			152326101		0.507	ENSG00000143520	5820	g.chr1:152326101T>C			calcium ion binding|structural molecule activity							447.668886	KEEP	91	70	-1	174	181	91	70	-1	460.602308	174	181	0.317241	1	0	0	0	0	0	0	1	0	--	--		0	C			uc001ezv.2_Intron	99	GBM-06-5417-TP	p.R1387R	T	TAGTTTCATGTCTCTCATGAA	NM_001014342	NP_001014364	152326101	Q5D862	FILA2_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4234	-	C	C	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Silent	1387						
FLG2	388698	broad.mit.edu	GRCh37	1	152328935	152328935	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6388-01	TCGA-06-6388-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388718.5:c.1327G>A	p.Glu443Lys	p.E443K	ENST00000388718	NM_001014342.2	443	Gaa/Aaa	0			1			T	E/K	uc001ezw.3	protein_coding	YES	CCDS30861.1			1327/7176								p.E443V(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	c.(1327-1329)GAA>AAA			hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24	filaggrin family member 2				ENSP00000373370		3-Mar	4.94E-05		0.000259	0.000116		3.00E-05			rs747766822,COSM3399750	3-Mar	.		ENST00000388718	Transcript					calcium ion binding|structural molecule activity	ENSG00000143520	g.chr1:152328935C>T	33276			MODERATE		-0.205	neutral	getma.org/?cm=msa&ty=f&p=FILA2_HUMAN&rb=101&re=459&var=E443K	NA	getma.org/?cm=var&var=hg19,1,152328935,C,T&fts=all	E443K	--	--	1																																		uc001ezv.2_Intron	0,1	1		unknown(0)	p.E443K	NM_001014342	NP_001014364			0,1	FILA2_HUMAN	FLG2	HGNC	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)				3	1400	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI00004E1DE5	443			Filaggrin 2.|Ser-rich.		SNV	FLG2,missense_variant,p.Glu443Lys,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;	uc001ezw.3	c.1327G>A	1400/9124	2	2			c.1327G>A						1	SNP	c.(1327-1329)GAA>AAA	29	29		p.E443V(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Broad	filaggrin family member 2			152328935		0.448	ENSG00000143520	5820	g.chr1:152328935C>T			calcium ion binding|structural molecule activity							156.771157	KEEP	30	31	-1	49	44	30	31	-1	158.075277	49	44	0.397163	1	0	0	0	0	1	0	0	0	--	--		0	T			uc001ezv.2_Intron	104	GBM-06-6388-TP	p.E443K	C	ACATGTTGTTCGAACCCAGAG	NM_001014342	NP_001014364	152328935	Q5D862	FILA2_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1400	-	T	T	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	443			Filaggrin 2.|Ser-rich.			
FLG2	0	broad.mit.edu	GRCh37	1	152327770	152327770	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-27-2521-01	TCGA-27-2521-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388718.5:c.2492C>A	p.Ser831Tyr	p.S831Y	ENST00000388718	NM_001014342.2	831	tCt/tAt	0			1			T	S/Y	uc001ezw.3	protein_coding	YES	CCDS30861.1			2492/7176									ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	c.(2491-2493)TCT>TAT			Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24	filaggrin family member 2				ENSP00000373370		3-Mar									COSM1498356	3-Mar	.		ENST00000388718	Transcript					calcium ion binding|structural molecule activity	ENSG00000143520	g.chr1:152327770G>T	33276			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=FILA2_HUMAN&rb=461&re=1139&var=S831Y	NA	getma.org/?cm=var&var=hg19,1,152327770,G,T&fts=all	S831Y	--	--	1																																		uc001ezv.2_Intron	1	1		unknown(0)	p.S831Y	NM_001014342	NP_001014364			1	FILA2_HUMAN	FLG2	HGNC	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)				3	2565	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI00004E1DE5	831			Ser-rich.		SNV	FLG2,missense_variant,p.Ser831Tyr,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;	uc001ezw.3	c.2492C>A	2565/9124	1	1			c.2492C>A						1	SNP	c.(2491-2493)TCT>TAT	13	13			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Broad	filaggrin family member 2			152327770		0.517	ENSG00000143520	5820	g.chr1:152327770G>T			calcium ion binding|structural molecule activity							-111.941591	KEEP	12	7	0.631578947	268	360	12	7	0.631578947	32.966993	268	360	0.031509	1	0	0	0	0	1	0	0	0	--	--		0	T			uc001ezv.2_Intron	200	GBM-27-2521-TP	p.S831Y	G	TCCAAAGCCAGAGGATTGTCC	NM_001014342	NP_001014364	152327770	Q5D862	FILA2_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2565	-	T	T	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	831			Ser-rich.			
FLG2	0	broad.mit.edu	GRCh37	1	152329436	152329436	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388718.5:c.826C>T	p.Arg276Ter	p.R276*	ENST00000388718	NM_001014342.2	276	Cga/Tga	0		A:0.0008	1	A:0		A	R/*	uc001ezw.3	protein_coding	YES	CCDS30861.1			826/7176									ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	c.(826-828)CGA>TGA			Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24	filaggrin family member 2		A:0		ENSP00000373370	A:0	3-Mar	6.59E-05	0.000192	0.000173			3.00E-05		0.000121	rs200529004,COSM2207031	3-Mar	.		ENST00000388718	Transcript		A:0.0002			calcium ion binding|structural molecule activity	ENSG00000143520	g.chr1:152329436G>A	33276			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,152329436,G,A&fts=all	R276*	--	--	1																																		uc001ezv.2_Intron	0,1	1			p.R276*	NM_001014342	NP_001014364	A:0		0,1	FILA2_HUMAN	FLG2	HGNC	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)				3	899	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI00004E1DE5	276			Ser-rich.|Filaggrin 1.		SNV	FLG2,stop_gained,p.Arg276Ter,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;	uc001ezw.3	c.826C>T	899/9124	5	2			c.826C>T						1	SNP	c.(826-828)CGA>TGA	36	36			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Broad	filaggrin family member 2			152329436		0.448	ENSG00000143520	5820	g.chr1:152329436G>A			calcium ion binding|structural molecule activity							29.786077	KEEP	30	16	-1	155	170	30	16	-1	76.117478	155	170	0.121212	1	0	0	0	0	0	1	0	0	--	--		0	A			uc001ezv.2_Intron	213	GBM-28-2513-TP	p.R276*	G	GCATGACTTCGCCTCCCACTG	NM_001014342	NP_001014364	152329436	Q5D862	FILA2_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	899	-	A	A	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Nonsense_Mutation	276			Ser-rich.|Filaggrin 1.			
FLG2	0	broad.mit.edu	GRCh37	1	152325929	152325929	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388718.5:c.4333C>T	p.Gln1445Ter	p.Q1445*	ENST00000388718	NM_001014342.2	1445	Caa/Taa	0			1			A	Q/*	uc001ezw.3	protein_coding	YES	CCDS30861.1			4333/7176									ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	c.(4333-4335)CAA>TAA			hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24	filaggrin family member 2				ENSP00000373370		3-Mar									COSM3399748	3-Mar	.		ENST00000388718	Transcript					calcium ion binding|structural molecule activity	ENSG00000143520	g.chr1:152325929G>A	33276			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,152325929,G,A&fts=all	Q1445*	--	--	1																																		uc001ezv.2_Intron	1	1			p.Q1445*	NM_001014342	NP_001014364			1	FILA2_HUMAN	FLG2	HGNC	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)				3	4406	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI00004E1DE5	1445					SNV	FLG2,stop_gained,p.Gln1445Ter,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;	uc001ezw.3	c.4333C>T	4406/9124	5	2			c.4333C>T						1	SNP	c.(4333-4335)CAA>TAA	36	36			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Broad	filaggrin family member 2			152325929		0.522	ENSG00000143520	5820	g.chr1:152325929G>A			calcium ion binding|structural molecule activity							579.895425	KEEP	141	124	-1	356	342	141	124	-1	620.264848	356	342	0.272306	1	0	0	0	0	0	1	0	0	--	--		0	A			uc001ezv.2_Intron	249	GBM-32-5222-TP	p.Q1445*	G	CCATGAGTTTGTTCTTGTGAT	NM_001014342	NP_001014364	152325929	Q5D862	FILA2_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4406	-	A	A	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Nonsense_Mutation	1445						
FLG2	388698		GRCh37	1	152326384	152326384	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000388718.5:c.3878A>G	p.His1293Arg	p.H1293R	ENST00000388718	NM_001014342.2	1293	cAc/cGc	0																																																																																																																																																																																																																																												
FLI1	2313	broad.mit.edu	GRCh37	11	128628186	128628186	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0210-01	TCGA-06-0210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000527786.2:c.195C>T	p.Asn65=	p.N65=	ENST00000527786	NM_001271010.1	65	aaC/aaT	0	T:0.0017	T:0.0091	1	T:0		T	N	uc010sbu.1	protein_coding	YES	CCDS44768.1			195/1359	T		EWSR1		Ewing sarcoma		EWSR1/FLI1(2266)		bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2)	2273	c.(193-195)AAC>AAT			hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF180	Friend leukemia virus integration 1		T:0	T:0.0001	ENSP00000433488	T:0	9-Feb	0.000462	0.00533	0.00048			4.86E-05		6.72E-05	rs186120614,COSM2150704	9-Feb	common_variant		ENST00000527786	Transcript	1	T:0.0024	hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000151702	g.chr11:128628186C>T	3749			LOW								--	--	1																																		FLI1_uc010sbt.1_Translation_Start_Site|FLI1_uc010sbv.1_Silent_p.N32N|FLI1_uc009zci.2_Translation_Start_Site|FLI1_uc001qen.2_Silent_p.N32N	0,1	1			p.N65N	NM_002017	NP_002008	T:0		0,1		FLI1	HGNC	Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)			2	536	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	UPI000012A972	65					SNV	FLI1,synonymous_variant,p.=,ENST00000527786,NM_001271010.1,NM_002017.4;FLI1,synonymous_variant,p.=,ENST00000344954,;FLI1,synonymous_variant,p.=,ENST00000534087,NM_001167681.2;FLI1,synonymous_variant,p.=,ENST00000527767,;FLI1,5_prime_UTR_variant,,ENST00000525560,NM_001271012.1;FLI1,synonymous_variant,p.=,ENST00000429175,;FLI1,synonymous_variant,p.=,ENST00000608303,;FLI1,non_coding_transcript_exon_variant,,ENST00000608055,;	uc010sbu.1	c.195C>T	684/4127	1	1			c.195C>T	T		EWSR1		Ewing sarcoma	11	SNP	c.(193-195)AAC>AAT	5	5	EWSR1/FLI1(2266)		bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2)	2273	Broad	Friend leukemia virus integration 1			128628186		0.587	ENSG00000151702	5821	g.chr11:128628186C>T	hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		(639V-Tumor)	400		(639V-Tumor)	400	21.153479	KEEP	5	7	-1	13	21	5	7	-1	23.745167	13	21	0.230769	1	0	0	0	0	0	0	1	0	--	--		0	T			FLI1_uc010sbt.1_Translation_Start_Site|FLI1_uc010sbv.1_Silent_p.N32N|FLI1_uc009zci.2_Translation_Start_Site|FLI1_uc001qen.2_Silent_p.N32N	47	GBM-06-0210-TP	p.N65N	C	TGAGGGTCAACGTCAAGCGGG	NM_002017	NP_002008	128628186	Q01543	FLI1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	2	536	+	T	T	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	Silent	65						
FLNA	2316	broad.mit.edu	GRCh37	X	153587696	153587696	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369850.3:c.4221C>T	p.Asp1407=	p.D1407=	ENST00000369850	NM_001110556.1	1407	gaC/gaT	0			1			A	D	uc004fkk.2	protein_coding	YES	CCDS48194.1			4221/7944									breast(6)	6	c.(4219-4221)GAC>GAT			Gene3D:2.60.40.10,Pfam_domain:PF00630,PROSITE_profiles:PS50194,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF173,SMART_domains:SM00557,Superfamily_domains:SSF81296	filamin A, alpha isoform 2				ENSP00000358866		25/48	4.96E-05		0.000107	0.000152				0.000198	rs372110377,COSM3406146,COSM3406145	25/48	.		ENST00000369850	Transcript	1		actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	ENSG00000196924	g.chrX:153587696G>A	3754			LOW								--	--	1																																		FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Silent_p.D1407D	0,1,1	1			p.D1407D	NM_001110556	NP_001104026			0,1,1	FLNA_HUMAN	FLNA	HGNC	P21333	FLNA_HUMAN			Q96C61_HUMAN,Q86TQ3_HUMAN,Q6NXF2_HUMAN,Q60FE5_HUMAN		25	4470	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		UPI000013C596	1407			Filamin 12.		SNV	FLNA,synonymous_variant,p.=,ENST00000422373,NM_001456.3;FLNA,synonymous_variant,p.=,ENST00000369850,NM_001110556.1;FLNA,synonymous_variant,p.=,ENST00000360319,;FLNA,synonymous_variant,p.=,ENST00000344736,;FLNA,upstream_gene_variant,,ENST00000369856,;FLNA,upstream_gene_variant,,ENST00000438732,;FLNA,upstream_gene_variant,,ENST00000466319,;FLNA,3_prime_UTR_variant,,ENST00000420627,;FLNA,non_coding_transcript_exon_variant,,ENST00000490936,;FLNA,upstream_gene_variant,,ENST00000474072,;	uc004fkk.2	c.4221C>T	4458/8382	1	1			c.4221C>T						23	SNP	c.(4219-4221)GAC>GAT	50	50			breast(6)	6	Broad	filamin A, alpha isoform 2			153587696		0.632	ENSG00000196924	5830	g.chrX:153587696G>A	actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			518			518	557.099287	KEEP	76	105	-1	22	26	76	105	-1	572.797016	22	26	0.781395	1	0	0	0	0	0	0	1	0	--	--		0	A			FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Silent_p.D1407D	102	GBM-06-5858-TP	p.D1407D	G	AGCAGCTGCCGTCCTTGTTAT	NM_001110556	NP_001104026	153587696	P21333	FLNA_HUMAN	0			25	4470	-	A	A	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		Silent	1407			Filamin 12.			
FLNA	2316		GRCh37	X	153581222	153581222	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000369850.3:c.6297C>T	p.Asp2099=	p.D2099=	ENST00000369850	NM_001110556.1	2099	gaC/gaT	0																																																																																																																																																																																																																																												
FLNA	2316		GRCh37	X	153592699	153592699	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000369850.3:c.2064C>T	p.Ala688=	p.A688=	ENST00000369850	NM_001110556.1	688	gcC/gcT	0																																																																																																																																																																																																																																												
FLNA	2316		GRCh37	X	153588445	153588445	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000369850.3:c.3718G>A	p.Val1240Met	p.V1240M	ENST00000369850	NM_001110556.1	1240	Gtg/Atg	0																																																																																																																																																																																																																																												
FLNB	2317	broad.mit.edu	GRCh37	3	58140654	58140654	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C			TCGA-02-0033-01	TCGA-02-0033-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000490882.1:c.6864T>C		p.X2288_splice	ENST00000490882	NM_001164317.1	2288	ccT/ccC	0			1			C	P	uc003djj.2	protein_coding		CCDS2885.1			6771/7809									breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19	c.(6769-6771)CCT>CCC			PROSITE_profiles:PS50194,hmmpanther:PTHR11915:SF238,hmmpanther:PTHR11915,Gene3D:2.60.40.10,Pfam_domain:PF00630,SMART_domains:SM00557,Superfamily_domains:SSF81296	filamin B isoform 2				ENSP00000295956		40/46									COSM3408835,COSM3408834	40/46	.		ENST00000295956	Transcript	1		actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	ENSG00000136068	g.chr3:58140654T>C	3755			LOW								--	--	1																																		FLNB_uc010hne.2_Silent_p.P2288P|FLNB_uc003djk.2_Silent_p.P2246P|FLNB_uc010hnf.2_Silent_p.P2233P|FLNB_uc003djl.2_Silent_p.P2077P|FLNB_uc003djm.2_Silent_p.P2064P	1,1				p.P2257P	NM_001457	NP_001448			1,1	FLNB_HUMAN	FLNB	HGNC	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)			40	6936	+			UPI00001AEC01	2257			Interaction with INPPL1.|Filamin 21.		SNV	FLNB,splice_region_variant,,ENST00000357272,;FLNB,splice_region_variant,p.=,ENST00000295956,NM_001457.3;FLNB,splice_region_variant,p.=,ENST00000429972,NM_001164318.1;FLNB,splice_region_variant,p.=,ENST00000358537,NM_001164319.1;FLNB,splice_region_variant,p.=,ENST00000348383,;FLNB,splice_region_variant,p.=,ENST00000419752,;FLNB,splice_region_variant,p.=,ENST00000490882,NM_001164317.1;FLNB,splice_region_variant,p.=,ENST00000493452,;FLNB,downstream_gene_variant,,ENST00000466455,;FLNB,splice_region_variant,,ENST00000481470,;FLNB,splice_region_variant,,ENST00000468939,;FLNB,downstream_gene_variant,,ENST00000477629,;FLNB,upstream_gene_variant,,ENST00000475487,;FLNB,downstream_gene_variant,,ENST00000470231,;	uc003djj.2	c.6771T>C	6936/9463	3	3			c.6771T>C						3	SNP	c.(6769-6771)CCT>CCC	5	5			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19	Broad	filamin B isoform 2			58140654		0.353	ENSG00000136068	5831	g.chr3:58140654T>C	actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding		p.P2288fs(MDAPCA2B-Tumor)	676		p.P2288fs(MDAPCA2B-Tumor)	676	-29.505018	KEEP	2	1	-1	74	77	2	1	-1	6.340175	74	77	0.021429	1	0	0	0	0	0	0	1	0	--	--		0	C			FLNB_uc010hne.2_Silent_p.P2288P|FLNB_uc003djk.2_Silent_p.P2246P|FLNB_uc010hnf.2_Silent_p.P2233P|FLNB_uc003djl.2_Silent_p.P2077P|FLNB_uc003djm.2_Silent_p.P2064P	2	GBM-02-0033-TP	p.P2257P	T	CCCAAGAGCCTGGTATGTATT	NM_001457	NP_001448	58140654	O75369	FLNB_HUMAN	0		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	40	6936	+	C	C			Silent	2257			Interaction with INPPL1.|Filamin 21.			
FLNB	0	broad.mit.edu	GRCh37	3	58135696	58135696	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01	TCGA-16-1045-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295956.4:c.6211G>A	p.Val2071Ile	p.V2071I	ENST00000295956	NM_001457.3	2071	Gtc/Atc	0	A:0.0002	A:0	1	A:0.0014		A	V/I	uc003djj.2	protein_coding		CCDS2885.1			6211/7809									breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19	c.(6211-6213)GTC>ATC			PROSITE_profiles:PS50194,hmmpanther:PTHR11915:SF238,hmmpanther:PTHR11915,Gene3D:2.60.40.10,Pfam_domain:PF00630,SMART_domains:SM00557,Superfamily_domains:SSF81296	filamin B isoform 2		A:0	A:0	ENSP00000295956	A:0	37/46	1.65E-05		8.64E-05			1.50E-05			rs201831615,COSM3408833,COSM4119639,COSM3408832	37/46	.		ENST00000295956	Transcript	1	A:0.0002	actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	ENSG00000136068	g.chr3:58135696G>A	3755			MODERATE		-0.255	neutral	getma.org/?cm=msa&ty=f&p=FLNB_HUMAN&rb=1999&re=2086&var=V2071I	getma.org/pdb.php?prot=FLNB_HUMAN&from=1999&to=2086&var=V2071I	getma.org/?cm=var&var=hg19,3,58135696,G,A&fts=all	V2071I	--	--	1																																		FLNB_uc010hne.2_Missense_Mutation_p.V2102I|FLNB_uc003djk.2_Missense_Mutation_p.V2060I|FLNB_uc010hnf.2_Missense_Mutation_p.V2047I|FLNB_uc003djl.2_Missense_Mutation_p.V1891I|FLNB_uc003djm.2_Missense_Mutation_p.V1878I|FLNB_uc010hng.1_RNA	0,1,1,1			probably_damaging(0.998)	p.V2071I	NM_001457	NP_001448	A:0	tolerated(1)	0,1,1,1	FLNB_HUMAN	FLNB	HGNC	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)			37	6376	+			UPI00001AEC01	2071			Interaction with FLNA 1.|Filamin 19.|Interaction with the cytoplasmic tail of GP1BA.		SNV	FLNB,missense_variant,p.Val2071Ile,ENST00000357272,;FLNB,missense_variant,p.Val2071Ile,ENST00000295956,NM_001457.3;FLNB,missense_variant,p.Val2060Ile,ENST00000429972,NM_001164318.1;FLNB,missense_variant,p.Val2047Ile,ENST00000358537,NM_001164319.1;FLNB,missense_variant,p.Val2071Ile,ENST00000348383,;FLNB,missense_variant,p.Val1891Ile,ENST00000419752,;FLNB,missense_variant,p.Val2102Ile,ENST00000490882,NM_001164317.1;FLNB,missense_variant,p.Val1878Ile,ENST00000493452,;FLNB,missense_variant,p.Val36Ile,ENST00000466455,;FLNB,non_coding_transcript_exon_variant,,ENST00000481470,;FLNB,non_coding_transcript_exon_variant,,ENST00000477629,;FLNB,upstream_gene_variant,,ENST00000468939,;FLNB,downstream_gene_variant,,ENST00000491408,;FLNB,upstream_gene_variant,,ENST00000470231,;	uc003djj.2	c.6211G>A	6376/9463	2	2			c.6211G>A						3	SNP	c.(6211-6213)GTC>ATC	31	31			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19	Broad	filamin B isoform 2			58135696		0.562	ENSG00000136068	5831	g.chr3:58135696G>A	actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			676			676	53.8289	KEEP	38	25	-1	261	244	38	25	-1	128.82446	261	244	0.107724	1	0	0	0	0	1	0	0	0	--	--		0	A			FLNB_uc010hne.2_Missense_Mutation_p.V2102I|FLNB_uc003djk.2_Missense_Mutation_p.V2060I|FLNB_uc010hnf.2_Missense_Mutation_p.V2047I|FLNB_uc003djl.2_Missense_Mutation_p.V1891I|FLNB_uc003djm.2_Missense_Mutation_p.V1878I|FLNB_uc010hng.1_RNA	157	GBM-16-1045-TP	p.V2071I	G	GGTTTATATCGTCTCCACCAA	NM_001457	NP_001448	58135696	O75369	FLNB_HUMAN	0		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	37	6376	+	A	A			Missense_Mutation	2071			Interaction with FLNA 1.|Filamin 19.|Interaction with the cytoplasmic tail of GP1BA.			
FLNB	0	broad.mit.edu	GRCh37	3	58141766	58141766	+	synonymous_variant	Silent	SNP	C	C	T	rs113304692		TCGA-19-2631-01	TCGA-19-2631-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295956.4:c.6852C>T	p.Ser2284=	p.S2284=	ENST00000295956	NM_001457.3	2284	tcC/tcT	0	T:0.0007		1			T	S	uc003djj.2	protein_coding		CCDS2885.1			6852/7809									breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19	c.(6850-6852)TCC>TCT			PROSITE_profiles:PS50194,hmmpanther:PTHR11915:SF238,hmmpanther:PTHR11915,Superfamily_domains:SSF81296	filamin B isoform 2			T:0	ENSP00000295956		41/46	5.77E-05	0.000289	0.000173			1.50E-05		6.06E-05	rs113304692,COSM2156427,COSM2156426	41/46	.		ENST00000295956	Transcript	1		actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	ENSG00000136068	g.chr3:58141766C>T	3755			LOW								--	--	1																																		FLNB_uc010hne.2_Silent_p.S2315S|FLNB_uc003djk.2_Silent_p.S2273S|FLNB_uc010hnf.2_Silent_p.S2260S|FLNB_uc003djl.2_Silent_p.S2104S|FLNB_uc003djm.2_Silent_p.S2091S	0,1,1				p.S2284S	NM_001457	NP_001448			0,1,1	FLNB_HUMAN	FLNB	HGNC	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)			41	7017	+			UPI00001AEC01	2284			Filamin 22.|Interaction with INPPL1.		SNV	FLNB,synonymous_variant,p.=,ENST00000295956,NM_001457.3;FLNB,synonymous_variant,p.=,ENST00000429972,NM_001164318.1;FLNB,synonymous_variant,p.=,ENST00000358537,NM_001164319.1;FLNB,synonymous_variant,p.=,ENST00000348383,;FLNB,synonymous_variant,p.=,ENST00000419752,;FLNB,synonymous_variant,p.=,ENST00000490882,NM_001164317.1;FLNB,synonymous_variant,p.=,ENST00000493452,;FLNB,3_prime_UTR_variant,,ENST00000357272,;FLNB,downstream_gene_variant,,ENST00000466455,;FLNB,non_coding_transcript_exon_variant,,ENST00000481470,;FLNB,non_coding_transcript_exon_variant,,ENST00000468939,;FLNB,non_coding_transcript_exon_variant,,ENST00000475487,;FLNB,downstream_gene_variant,,ENST00000477629,;FLNB,downstream_gene_variant,,ENST00000470231,;	uc003djj.2	c.6852C>T	7017/9463	1	1			c.6852C>T						3	SNP	c.(6850-6852)TCC>TCT	9	9			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19	Broad	filamin B isoform 2			58141766		0.587	ENSG00000136068	5831	g.chr3:58141766C>T	actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			676			676	51.144052	KEEP	12	17	-1	48	44	12	17	-1	56.992265	48	44	0.233333	1	0	0	0	0	0	0	1	0	--	--		0	T			FLNB_uc010hne.2_Silent_p.S2315S|FLNB_uc003djk.2_Silent_p.S2273S|FLNB_uc010hnf.2_Silent_p.S2260S|FLNB_uc003djl.2_Silent_p.S2104S|FLNB_uc003djm.2_Silent_p.S2091S	167	GBM-19-2631-TP	p.S2284S	C	TCGCACCCTCCGACGACGCCC	NM_001457	NP_001448	58141766	O75369	FLNB_HUMAN	0		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	41	7017	+	T	T			Silent	2284			Filamin 22.|Interaction with INPPL1.			
FLNC	2318	broad.mit.edu	GRCh37	7	128490536	128490536	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G			TCGA-06-5415-01	TCGA-06-5415-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325888.8:c.5397A>G		p.X1799_splice	ENST00000325888	NM_001458.4	1799	acA/acG	0			1			G	T	uc003vnz.3	protein_coding	YES	CCDS43644.1			5397/8178									breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12	c.(5395-5397)ACA>ACG			Gene3D:2.60.40.10,Pfam_domain:PF00630,PROSITE_profiles:PS50194,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF173,SMART_domains:SM00557,Superfamily_domains:SSF81296	gamma filamin isoform a				ENSP00000327145		32/48									COSM3411571	32/48	.		ENST00000325888	Transcript	1		cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	ENSG00000128591	g.chr7:128490536A>G	3756			LOW								--	--	1																																		FLNC_uc003voa.3_Silent_p.T1766T	1	1			p.T1799T	NM_001458	NP_001449			1	FLNC_HUMAN	FLNC	HGNC	Q14315	FLNC_HUMAN			Q59H94_HUMAN,B3KM41_HUMAN		32	5606	+			UPI000006DE6D	1799			Filamin 16.		SNV	FLNC,splice_region_variant,p.=,ENST00000325888,NM_001458.4;FLNC,splice_region_variant,p.=,ENST00000346177,NM_001127487.1;RP11-309L24.2,intron_variant,,ENST00000469965,;	uc003vnz.3	c.5397A>G	5658/9188	3	3			c.5397A>G						7	SNP	c.(5395-5397)ACA>ACG	12	12			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12	Broad	gamma filamin isoform a			128490536		0.463	ENSG00000128591	5832	g.chr7:128490536A>G	cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			892			892	-54.285624	KEEP	1	2	-1	114	116	1	2	-1	6.515356	114	116	0.013333	1	0	0	0	0	0	0	1	0	--	--		0	G			FLNC_uc003voa.3_Silent_p.T1766T	98	GBM-06-5415-TP	p.T1799T	A	GGGAGCTCACAGGTACTGCCC	NM_001458	NP_001449	128490536	Q14315	FLNC_HUMAN	0			32	5606	+	G	G			Silent	1799			Filamin 16.			
FLNC	2318	broad.mit.edu	GRCh37	7	128493857	128493857	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5415-01	TCGA-06-5415-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325888.8:c.6450C>T	p.Ile2150=	p.I2150=	ENST00000325888	NM_001458.4	2150	atC/atT	0			1			T	I	uc003vnz.3	protein_coding	YES	CCDS43644.1			6450/8178									breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12	c.(6448-6450)ATC>ATT			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF173	gamma filamin isoform a				ENSP00000327145		39/48	0.000107		0.00113						rs776206819,COSM2153230	39/48	common_variant		ENST00000325888	Transcript	1		cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	ENSG00000128591	g.chr7:128493857C>T	3756			LOW								--	--	1																																		FLNC_uc003voa.3_Silent_p.I2117I	0,1	1			p.I2150I	NM_001458	NP_001449			0,1	FLNC_HUMAN	FLNC	HGNC	Q14315	FLNC_HUMAN			Q59H94_HUMAN,B3KM41_HUMAN		39	6659	+			UPI000006DE6D	2150					SNV	FLNC,synonymous_variant,p.=,ENST00000325888,NM_001458.4;FLNC,synonymous_variant,p.=,ENST00000346177,NM_001127487.1;RP11-309L24.2,intron_variant,,ENST00000469965,;	uc003vnz.3	c.6450C>T	6711/9188	1	1			c.6450C>T						7	SNP	c.(6448-6450)ATC>ATT	11	11			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12	Broad	gamma filamin isoform a			128493857		0.662	ENSG00000128591	5832	g.chr7:128493857C>T	cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding		p.I2150I(LMSU-Tumor)|p.I2150I(JHOS2-Tumor)	892		p.I2150I(LMSU-Tumor)|p.I2150I(JHOS2-Tumor)	892	84.02166	KEEP	18	14	-1	27	42	18	14	-1	85.756893	27	42	0.348837	1	0	0	0	0	0	0	1	0	--	--		0	T			FLNC_uc003voa.3_Silent_p.I2117I	98	GBM-06-5415-TP	p.I2150I	C	TCGCCACCATCGGCAGCACCT	NM_001458	NP_001449	128493857	Q14315	FLNC_HUMAN	0			39	6659	+	T	T			Silent	2150						
FLNC	0	broad.mit.edu	GRCh37	7	128494166	128494166	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-12-0616-01	TCGA-12-0616-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325888.8:c.6623A>G	p.Glu2208Gly	p.E2208G	ENST00000325888	NM_001458.4	2208	gAg/gGg	0			1			G	E/G	uc003vnz.3	protein_coding	YES	CCDS43644.1			6623/8178									breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12	c.(6622-6624)GAG>GGG			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF173	gamma filamin isoform a				ENSP00000327145		40/48									COSM3748352	40/48	.		ENST00000325888	Transcript	1		cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	ENSG00000128591	g.chr7:128494166A>G	3756			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=FLNC_HUMAN&rb=2126&re=2226&var=E2208G	NA	getma.org/?cm=var&var=hg19,7,128494166,A,G&fts=all	E2208G	--	--	1																																		FLNC_uc003voa.3_Missense_Mutation_p.E2175G	1	1		benign(0)	p.E2208G	NM_001458	NP_001449		tolerated(0.11)	1	FLNC_HUMAN	FLNC	HGNC	Q14315	FLNC_HUMAN			Q59H94_HUMAN,B3KM41_HUMAN		40	6832	+			UPI000006DE6D	2208			Intradomain insert.		SNV	FLNC,missense_variant,p.Glu2208Gly,ENST00000325888,NM_001458.4;FLNC,missense_variant,p.Glu2175Gly,ENST00000346177,NM_001127487.1;RP11-309L24.2,intron_variant,,ENST00000469965,;	uc003vnz.3	c.6623A>G	6884/9188	4	4			c.6623A>G						7	SNP	c.(6622-6624)GAG>GGG	29	29			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12	Broad	gamma filamin isoform a			128494166		0.687	ENSG00000128591	5832	g.chr7:128494166A>G	cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			892			892	-3.596019	KEEP	1	3	-1	25	33	1	3	-1	6.782344	25	33	0.058824	1	0	0	0	0	1	0	0	0	--	--		0	G			FLNC_uc003voa.3_Missense_Mutation_p.E2175G	118	GBM-12-0616-TP	p.E2208G	A	GTGCGGGTGGAGGAGTCCACC	NM_001458	NP_001449	128494166	Q14315	FLNC_HUMAN	0			40	6832	+	G	G			Missense_Mutation	2208			Intradomain insert.			
FLNC	0	broad.mit.edu	GRCh37	7	128491526	128491526	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01	TCGA-12-3650-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325888.8:c.5686G>A	p.Val1896Met	p.V1896M	ENST00000325888	NM_001458.4	1896	Gtg/Atg	0			1			A	V/M	uc003vnz.3	protein_coding	YES	CCDS43644.1			5686/8178									breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12	c.(5686-5688)GTG>ATG			Gene3D:2.60.40.10,Pfam_domain:PF00630,PROSITE_profiles:PS50194,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF173,SMART_domains:SM00557,Superfamily_domains:SSF81296	gamma filamin isoform a				ENSP00000327145		35/48									COSM3411572	35/48	.		ENST00000325888	Transcript	1		cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	ENSG00000128591	g.chr7:128491526G>A	3756			MODERATE		2.665	medium	getma.org/?cm=msa&ty=f&p=FLNC_HUMAN&rb=1856&re=1943&var=V1896M	getma.org/pdb.php?prot=FLNC_HUMAN&from=1856&to=1943&var=V1896M	getma.org/?cm=var&var=hg19,7,128491526,G,A&fts=all	V1896M	--	--	1																																		FLNC_uc003voa.3_Missense_Mutation_p.V1863M	1	1		probably_damaging(1)	p.V1896M	NM_001458	NP_001449		deleterious(0)	1	FLNC_HUMAN	FLNC	HGNC	Q14315	FLNC_HUMAN			Q59H94_HUMAN,B3KM41_HUMAN		35	5895	+			UPI000006DE6D	1896			Filamin 17.		SNV	FLNC,missense_variant,p.Val1896Met,ENST00000325888,NM_001458.4;FLNC,missense_variant,p.Val1863Met,ENST00000346177,NM_001127487.1;RP11-309L24.2,non_coding_transcript_exon_variant,,ENST00000469965,;	uc003vnz.3	c.5686G>A	5947/9188	2	2			c.5686G>A						7	SNP	c.(5686-5688)GTG>ATG	46	46			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12	Broad	gamma filamin isoform a			128491526		0.622	ENSG00000128591	5832	g.chr7:128491526G>A	cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			892			892	148.219556	KEEP	33	31	-1	63	65	33	31	-1	153.035776	63	65	0.319277	1	0	0	0	0	1	0	0	0	--	--		0	A			FLNC_uc003voa.3_Missense_Mutation_p.V1863M	126	GBM-12-3650-TP	p.V1896M	G	GTCACTGGCCGTGGAGGGCCC	NM_001458	NP_001449	128491526	Q14315	FLNC_HUMAN	0			35	5895	+	A	A			Missense_Mutation	1896			Filamin 17.			
FLNC	0	broad.mit.edu	GRCh37	7	128489530	128489530	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325888.8:c.5097C>G	p.Asp1699Glu	p.D1699E	ENST00000325888	NM_001458.4	1699	gaC/gaG	0			1			G	D/E	uc003vnz.3	protein_coding	YES	CCDS43644.1			5097/8178									breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12	c.(5095-5097)GAC>GAG			Gene3D:2.60.40.10,Pfam_domain:PF00630,PROSITE_profiles:PS50194,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF173,SMART_domains:SM00557,Superfamily_domains:SSF81296	gamma filamin isoform a				ENSP00000327145		30/48									COSM3411570	30/48	.		ENST00000325888	Transcript	1		cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	ENSG00000128591	g.chr7:128489530C>G	3756			MODERATE		2.235	medium	getma.org/?cm=msa&ty=f&p=FLNC_HUMAN&rb=1633&re=1731&var=D1699E	getma.org/pdb.php?prot=FLNC_HUMAN&from=1633&to=1731&var=D1699E	getma.org/?cm=var&var=hg19,7,128489530,C,G&fts=all	D1699E	--	--	1																																		FLNC_uc003voa.3_Missense_Mutation_p.D1699E	1	1		probably_damaging(1)	p.D1699E	NM_001458	NP_001449		deleterious(0)	1	FLNC_HUMAN	FLNC	HGNC	Q14315	FLNC_HUMAN			Q59H94_HUMAN,B3KM41_HUMAN		30	5306	+			UPI000006DE6D	1699			Filamin 15.		SNV	FLNC,missense_variant,p.Asp1699Glu,ENST00000325888,NM_001458.4;FLNC,missense_variant,p.Asp1699Glu,ENST00000346177,NM_001127487.1;RP11-309L24.2,downstream_gene_variant,,ENST00000469965,;	uc003vnz.3	c.5097C>G	5358/9188	3	3			c.5097C>G						7	SNP	c.(5095-5097)GAC>GAG	54	54			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12	Broad	gamma filamin isoform a			128489530		0.612	ENSG00000128591	5832	g.chr7:128489530C>G	cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			892			892	-18.862833	KEEP	3	1	-1	50	64	3	1	-1	6.532626	50	64	0.028846	1	0	0	0	0	1	0	0	0	--	--		0	G			FLNC_uc003voa.3_Missense_Mutation_p.D1699E	229	GBM-32-1977-TP	p.D1699E	C	AGAACCATGACGGTACCTTTG	NM_001458	NP_001449	128489530	Q14315	FLNC_HUMAN	0			30	5306	+	G	G			Missense_Mutation	1699			Filamin 15.			
FLOT1	0	broad.mit.edu	GRCh37	6	30697825	30697826	+	frameshift_variant	Frame_Shift_Del	DEL	TT	TT	-	rs113030936		TCGA-12-0821-01	TCGA-12-0821-01	TT	TT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376389.3:c.1227_1228delAA	p.Arg410ThrfsTer34	p.R410Tfs*34	ENST00000376389	NM_005803.2	409	gaAAga/gaga	0			1			-	ER/EX	uc003nrm.2	protein_coding	YES	CCDS4688.1			1227-1228/1284										0	c.(1225-1230)GAAAGAfs			hmmpanther:PTHR13806,hmmpanther:PTHR13806:SF18	flotillin 1				ENSP00000365569		13-Dec										13-Dec	.		ENST00000376389	Transcript				centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction		ENSG00000137312	g.chr6:30697825_30697826delTT	3757			HIGH								--	--	1																																		FLOT1_uc011dmr.1_Frame_Shift_Del_p.E361fs		1			p.E409fs	NM_005803	NP_005794				FLOT1_HUMAN	FLOT1	HGNC	O75955	FLOT1_HUMAN			Q5ST80_HUMAN,A2AB13_HUMAN,A2AB12_HUMAN,A2AB10_HUMAN		12	1391_1392	-			UPI000000D73F	409_410					deletion	FLOT1,frameshift_variant,p.Arg410ThrfsTer34,ENST00000376389,NM_005803.2;FLOT1,frameshift_variant,p.Arg362ThrfsTer34,ENST00000456573,;TUBB,downstream_gene_variant,,ENST00000396389,;TUBB,downstream_gene_variant,,ENST00000396384,;TUBB,downstream_gene_variant,,ENST00000327892,NM_178014.2;TUBB,downstream_gene_variant,,ENST00000330914,;FLOT1,downstream_gene_variant,,ENST00000438162,;FLOT1,downstream_gene_variant,,ENST00000413165,;FLOT1,non_coding_transcript_exon_variant,,ENST00000487376,;FLOT1,downstream_gene_variant,,ENST00000476729,;	uc003nrm.2	c.1227_1228delAA	1448-1449/1912	5	5			c.1227_1228delAA						6	DEL	c.(1225-1230)GAAAGAfs	3	3				0	Broad	flotillin 1			30697826		0.53	ENSG00000137312	5833	g.chr6:30697825_30697826delTT		centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction																					0.07	1	1	0	1	0	0	0	0	0	--	--		0	-			FLOT1_uc011dmr.1_Frame_Shift_Del_p.E361fs	123	GBM-12-0821-TP	p.E409fs	TT	CCTGTGAGTCTTTCCACACTCT	NM_005803	NP_005794	30697825	O75955	FLOT1_HUMAN	0			12	1391_1392	-	-	-			Frame_Shift_Del	409_410						
FLRT1	23769	broad.mit.edu	GRCh37	11	63884137	63884137	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-2557-01	TCGA-06-2557-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000246841.3:c.398A>G	p.His133Arg	p.H133R	ENST00000246841	NM_013280.4	133	cAc/cGc	0			1			G	H/R	uc001nyi.1	protein_coding	YES	CCDS8057.1			398/2025										0	c.(397-399)CAC>CGC			Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF30,SMART_domains:SM00369,Superfamily_domains:SSF52058	fibronectin leucine rich transmembrane protein				ENSP00000246841		2-Feb									COSM2152540	2-Feb	.		ENST00000246841	Transcript	1		cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	ENSG00000126500	g.chr11:63884137A>G	3760			MODERATE		0.3	neutral	getma.org/?cm=msa&ty=f&p=FLRT1_HUMAN&rb=99&re=167&var=H105R	getma.org/pdb.php?prot=FLRT1_HUMAN&from=99&to=167&var=H105R	getma.org/?cm=var&var=hg19,11,63884137,A,G&fts=all	H105R	--	--	1																																		MACROD1_uc001nyh.2_Intron	1	1		possibly_damaging(0.835)	p.H133R	NM_013280	NP_037412		deleterious(0)	1	FLRT1_HUMAN	FLRT1	HGNC	Q9NZU1	FLRT1_HUMAN			O43408_HUMAN		2	739	+			UPI0000039F94	105			LRR 3.|Extracellular (Potential).		SNV	FLRT1,missense_variant,p.His133Arg,ENST00000246841,NM_013280.4;MACROD1,intron_variant,,ENST00000255681,NM_014067.3;RP11-21A7A.3,downstream_gene_variant,,ENST00000543817,;MACROD1,intron_variant,,ENST00000542359,;MACROD1,intron_variant,,ENST00000543422,;MACROD1,intron_variant,,ENST00000545464,;	uc001nyi.1	c.398A>G	1441/3949	3	3			c.398A>G						11	SNP	c.(397-399)CAC>CGC	8	8				0	Broad	fibronectin leucine rich transmembrane protein			63884137		0.602	ENSG00000126500	5835	g.chr11:63884137A>G	cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity							60.917361	KEEP	11	19	-1	31	32	11	19	-1	64.40384	31	32	0.278481	1	0	0	0	0	1	0	0	0	--	--		0	G			MACROD1_uc001nyh.2_Intron	81	GBM-06-2557-TP	p.H133R	A	CGGGAGCTGCACCTGCAGGAC	NM_013280	NP_037412	63884137	Q9NZU1	FLRT1_HUMAN	0			2	739	+	G	G			Missense_Mutation	105			LRR 3.|Extracellular (Potential).			
FLRT2	0	broad.mit.edu	GRCh37	14	86088466	86088466	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-1970-01	TCGA-32-1970-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330753.4:c.608T>C	p.Leu203Pro	p.L203P	ENST00000330753	NM_013231.4	203	cTc/cCc	0			1			C	L/P	uc001xvr.2	protein_coding	YES	CCDS9877.1			608/1983									ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4	c.(607-609)CTC>CCC			Superfamily_domains:SSF52058,SMART_domains:SM00369,Pfam_domain:PF13855,Gene3D:3.80.10.10,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF23	fibronectin leucine rich transmembrane protein 2				ENSP00000332879		2-Feb									COSM3747961	2-Feb	.		ENST00000330753	Transcript			cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	ENSG00000185070	g.chr14:86088466T>C	3761			MODERATE		3.87	high	getma.org/?cm=msa&ty=f&p=FLRT2_HUMAN&rb=181&re=242&var=L203P	getma.org/pdb.php?prot=FLRT2_HUMAN&from=181&to=242&var=L203P	getma.org/?cm=var&var=hg19,14,86088466,T,C&fts=all	L203P	--	--	1																																		FLRT2_uc010atd.2_Missense_Mutation_p.L203P	1	1		probably_damaging(0.992)	p.L203P	NM_013231	NP_037363		deleterious(0)	1	FLRT2_HUMAN	FLRT2	HGNC	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	B4DM15_HUMAN		2	1375	+			UPI0000049E10	203			Extracellular (Potential).		SNV	FLRT2,missense_variant,p.Leu203Pro,ENST00000330753,NM_013231.4;FLRT2,missense_variant,p.Leu203Pro,ENST00000554746,;FLRT2,upstream_gene_variant,,ENST00000553650,;	uc001xvr.2	c.608T>C	1375/7943	3	3			c.608T>C						14	SNP	c.(607-609)CTC>CCC	5	5			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4	Broad	fibronectin leucine rich transmembrane protein 2			86088466		0.522	ENSG00000185070	5836	g.chr14:86088466T>C	cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity							131.095404	KEEP	19	23	-1	44	38	19	23	-1	133.72394	44	38	0.33913	1	0	0	0	0	1	0	0	0	--	--		0	C			FLRT2_uc010atd.2_Missense_Mutation_p.L203P	228	GBM-32-1970-TP	p.L203P	T	TTCCAGAATCTCACGAGCTTG	NM_013231	NP_037363	86088466	O43155	FLRT2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	1375	+	C	C			Missense_Mutation	203			Extracellular (Potential).			
FLT1	2321	broad.mit.edu	GRCh37	13	28931760	28931760	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0173-01	TCGA-06-0173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282397.4:c.2179G>T	p.Gly727Cys	p.G727C	ENST00000282397	NM_002019.4	727	Ggt/Tgt	0			1			A	G/C	uc001usb.3	protein_coding	YES	CCDS9330.1			2179/4017								p.G727C(1)	lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	c.(2179-2181)GGT>TGT			PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF126,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)			ENSP00000282397		15/30									COSM35842	15/30	.		ENST00000282397	Transcript			cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	ENSG00000102755	g.chr13:28931760C>A	3763			MODERATE		4.47	high	getma.org/?cm=msa&ty=f&p=VGFR1_HUMAN&rb=661&re=748&var=G727C	getma.org/pdb.php?prot=VGFR1_HUMAN&from=661&to=748&var=G727C	getma.org/?cm=var&var=hg19,13,28931760,C,A&fts=all	G727C	--	--	1																																			1	1		probably_damaging(1)	p.G727C	NM_002019	NP_002010		deleterious(0)	1	VGFR1_HUMAN	FLT1	HGNC	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	S5U0M6_HUMAN,S5TRK2_HUMAN,L7RSL3_HUMAN,H9N1E8_HUMAN,H9N1E7_HUMAN		15	2464	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	UPI000013DCDD	727			Ig-like C2-type 7.|Extracellular (Potential).		SNV	FLT1,missense_variant,p.Gly727Cys,ENST00000282397,NM_002019.4;	uc001usb.3	c.2179G>T	2431/7084	2	2			c.2179G>T						13	SNP	c.(2179-2181)GGT>TGT	32	32		p.G727C(1)	lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Broad	fms-related tyrosine kinase 1 isoform 1		Sunitinib(DB01268)	28931760		0.448	ENSG00000102755	5838	g.chr13:28931760C>A	cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			738			738	192.090043	KEEP	39	32	0.450704225	55	61	39	32	0.450704225	193.785371	55	61	0.392857	1	0	0	0	0	1	0	0	0	--	--		0	A				36	GBM-06-0173-TP	p.G727C	C	TGATAGACACCTTCATCCTCT	NM_002019	NP_002010	28931760	P17948	VGFR1_HUMAN	0	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	15	2464	-	A	A	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Missense_Mutation	727			Ig-like C2-type 7.|Extracellular (Potential).			
FLT1	2321	broad.mit.edu	GRCh37	13	28971149	28971149	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0939-01	TCGA-06-0939-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282397.4:c.1608A>G	p.Ile536Met	p.I536M	ENST00000282397	NM_002019.4	536	atA/atG	0			1			C	I/M	uc001usb.3	protein_coding	YES	CCDS9330.1			1608/4017									lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	c.(1606-1608)ATA>ATG			PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF126,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)			ENSP00000282397		30-Dec									COSM3747943,COSM3747944	30-Dec	.		ENST00000282397	Transcript			cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	ENSG00000102755	g.chr13:28971149T>C	3763			MODERATE		-0.06	neutral	getma.org/?cm=msa&ty=f&p=VGFR1_HUMAN&rb=433&re=553&var=I536M	NA	getma.org/?cm=var&var=hg19,13,28971149,T,C&fts=all	I536M	--	--	1																																		FLT1_uc010aar.1_Missense_Mutation_p.I536M|FLT1_uc001usc.3_Missense_Mutation_p.I536M|FLT1_uc010aas.1_RNA|FLT1_uc010aat.1_Missense_Mutation_p.I19M	1,1	1		benign(0.004)	p.I536M	NM_002019	NP_002010		tolerated(0.31)	1,1	VGFR1_HUMAN	FLT1	HGNC	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	S5U0M6_HUMAN,S5TRK2_HUMAN,L7RSL3_HUMAN,H9N1E8_HUMAN,H9N1E7_HUMAN		12	1893	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	UPI000013DCDD	536			Ig-like C2-type 5.|Extracellular (Potential).		SNV	FLT1,missense_variant,p.Ile536Met,ENST00000282397,NM_002019.4;FLT1,missense_variant,p.Ile536Met,ENST00000541932,NM_001160030.1;FLT1,downstream_gene_variant,,ENST00000539099,NM_001160031.1;	uc001usb.3	c.1608A>G	1860/7084	4	4			c.1608A>G						13	SNP	c.(1606-1608)ATA>ATG	42	42			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Broad	fms-related tyrosine kinase 1 isoform 1		Sunitinib(DB01268)	28971149		0.413	ENSG00000102755	5838	g.chr13:28971149T>C	cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			738			738	-8.463717	KEEP	5	0	-1	53	46	5	0	-1	10.10651	53	46	0.047059	1	0	0	0	0	1	0	0	0	--	--		0	C			FLT1_uc010aar.1_Missense_Mutation_p.I536M|FLT1_uc001usc.3_Missense_Mutation_p.I536M|FLT1_uc010aas.1_RNA|FLT1_uc010aat.1_Missense_Mutation_p.I19M	78	GBM-06-0939-TP	p.I536M	T	TATTGGAAGCTATGCAAATGT	NM_002019	NP_002010	28971149	P17948	VGFR1_HUMAN	0	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	12	1893	-	C	C	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Missense_Mutation	536			Ig-like C2-type 5.|Extracellular (Potential).			
FLT1	0	broad.mit.edu	GRCh37	13	28896953	28896953	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6700-01	TCGA-06-6700-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282397.4:c.2927G>A	p.Ser976Asn	p.S976N	ENST00000282397	NM_002019.4	976	aGt/aAt	0			1			T	S/N	uc001usb.3	protein_coding	YES	CCDS9330.1			2927/4017									lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	c.(2926-2928)AGT>AAT			Low_complexity_(Seg):seg,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF126,Pfam_domain:PF07714,SMART_domains:SM00219	fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)			ENSP00000282397		21/30									COSM3399323	21/30	.		ENST00000282397	Transcript			cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	ENSG00000102755	g.chr13:28896953C>T	3763			MODERATE		0.52	neutral	getma.org/?cm=msa&ty=f&p=VGFR1_HUMAN&rb=827&re=1154&var=S976N	getma.org/pdb.php?prot=VGFR1_HUMAN&from=827&to=1154&var=S976N	getma.org/?cm=var&var=hg19,13,28896953,C,T&fts=all	S976N	--	--	1																																		FLT1_uc010aap.2_5'Flank|FLT1_uc010aaq.2_Missense_Mutation_p.S101N|FLT1_uc001usa.3_Missense_Mutation_p.S194N	1	1		probably_damaging(0.978)	p.S976N	NM_002019	NP_002010		tolerated(0.16)	1	VGFR1_HUMAN	FLT1	HGNC	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	S5U0M6_HUMAN,S5TRK2_HUMAN,L7RSL3_HUMAN,H9N1E8_HUMAN,H9N1E7_HUMAN		21	3212	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	UPI000013DCDD	976			Cytoplasmic (Potential).|Protein kinase.		SNV	FLT1,missense_variant,p.Ser976Asn,ENST00000282397,NM_002019.4;FLT1,missense_variant,p.Ser194Asn,ENST00000540678,;FLT1,upstream_gene_variant,,ENST00000543394,;	uc001usb.3	c.2927G>A	3179/7084	2	2			c.2927G>A						13	SNP	c.(2926-2928)AGT>AAT	36	36			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Broad	fms-related tyrosine kinase 1 isoform 1		Sunitinib(DB01268)	28896953		0.438	ENSG00000102755	5838	g.chr13:28896953C>T	cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			738			738	-35.046976	KEEP	4	2	-1	85	106	4	2	-1	8.892215	85	106	0.027933	1	0	0	0	0	1	0	0	0	--	--		0	T			FLT1_uc010aap.2_5'Flank|FLT1_uc010aaq.2_Missense_Mutation_p.S101N|FLT1_uc001usa.3_Missense_Mutation_p.S194N	114	GBM-06-6700-TP	p.S976N	C	ATCACTCAGACTTTTATCTTC	NM_002019	NP_002010	28896953	P17948	VGFR1_HUMAN	0	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	21	3212	-	T	T	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Missense_Mutation	976			Cytoplasmic (Potential).|Protein kinase.			
FLT1	0	broad.mit.edu	GRCh37	13	28880897	28880897	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0821-01	TCGA-12-0821-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282397.4:c.3733G>A	p.Asp1245Asn	p.D1245N	ENST00000282397	NM_002019.4	1245	Gac/Aac	0	T:0		1			T	D/N	uc001usb.3	protein_coding	YES	CCDS9330.1			3733/4017									lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	c.(3733-3735)GAC>AAC			hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF126	fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)		T:0.0001	ENSP00000282397		29/30									rs372046832,COSM3399321,COSM3399322	29/30	.		ENST00000282397	Transcript			cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	ENSG00000102755	g.chr13:28880897C>T	3763			MODERATE		1.665	low	getma.org/?cm=msa&ty=f&p=VGFR1_HUMAN&rb=1218&re=1335&var=D1245N	NA	getma.org/?cm=var&var=hg19,13,28880897,C,T&fts=all	D1245N	--	--	1																																		FLT1_uc010aap.2_Missense_Mutation_p.D250N|FLT1_uc010aaq.2_Missense_Mutation_p.D370N|FLT1_uc001usa.3_Missense_Mutation_p.D463N	0,1,1	1		possibly_damaging(0.676)	p.D1245N	NM_002019	NP_002010		deleterious(0.01)	0,1,1	VGFR1_HUMAN	FLT1	HGNC	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	S5U0M6_HUMAN,S5TRK2_HUMAN,L7RSL3_HUMAN,H9N1E8_HUMAN,H9N1E7_HUMAN		29	4018	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	UPI000013DCDD	1245			Cytoplasmic (Potential).		SNV	FLT1,missense_variant,p.Asp1245Asn,ENST00000282397,NM_002019.4;FLT1,missense_variant,p.Asp463Asn,ENST00000540678,;FLT1,missense_variant,p.Asp268Asn,ENST00000543394,;	uc001usb.3	c.3733G>A	3985/7084	1	1			c.3733G>A						13	SNP	c.(3733-3735)GAC>AAC	5	5			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Broad	fms-related tyrosine kinase 1 isoform 1		Sunitinib(DB01268)	28880897		0.552	ENSG00000102755	5838	g.chr13:28880897C>T	cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			738			738	181.312276	KEEP	50	19	-1	63	25	50	19	-1	181.727207	63	25	0.440299	1	0	0	0	0	1	0	0	0	--	--		0	T			FLT1_uc010aap.2_Missense_Mutation_p.D250N|FLT1_uc010aaq.2_Missense_Mutation_p.D370N|FLT1_uc001usa.3_Missense_Mutation_p.D463N	123	GBM-12-0821-TP	p.D1245N	C	GTGCTGCTGTCGCCCTGGTAG	NM_002019	NP_002010	28880897	P17948	VGFR1_HUMAN	0	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	29	4018	-	T	T	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Missense_Mutation	1245			Cytoplasmic (Potential).			
FLT1	0	broad.mit.edu	GRCh37	13	28919630	28919630	+	synonymous_variant	Silent	SNP	C	C	T	rs142392658		TCGA-14-1450-01	TCGA-14-1450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282397.4:c.2307G>A	p.Ala769=	p.A769=	ENST00000282397	NM_002019.4	769	gcG/gcA	0	T:0		1			T	A	uc001usb.3	protein_coding	YES	CCDS9330.1			2307/4017								p.A769S(1)	lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	c.(2305-2307)GCG>GCA			Low_complexity_(Seg):seg,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF126	fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)		T:0.0003	ENSP00000282397		16/30	5.77E-05					0.000121			rs142392658,COSM946509	16/30	.		ENST00000282397	Transcript			cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	ENSG00000102755	g.chr13:28919630C>T	3763			LOW								--	--	1																																		FLT1_uc001usa.3_5'UTR	0,1	1			p.A769A	NM_002019	NP_002010			0,1	VGFR1_HUMAN	FLT1	HGNC	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	S5U0M6_HUMAN,S5TRK2_HUMAN,L7RSL3_HUMAN,H9N1E8_HUMAN,H9N1E7_HUMAN		16	2592	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	UPI000013DCDD	769			Helical; (Potential).		SNV	FLT1,synonymous_variant,p.=,ENST00000282397,NM_002019.4;FLT1,5_prime_UTR_variant,,ENST00000540678,;	uc001usb.3	c.2307G>A	2559/7084	1	1			c.2307G>A						13	SNP	c.(2305-2307)GCG>GCA	14	14		p.A769S(1)	lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Broad	fms-related tyrosine kinase 1 isoform 1		Sunitinib(DB01268)	28919630		0.398	ENSG00000102755	5838	g.chr13:28919630C>T	cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			738			738	22.764804	KEEP	5	5	-1	10	8	5	5	-1	23.095289	10	8	0.375	1	0	0	0	0	0	0	1	0	--	--		0	T			FLT1_uc001usa.3_5'UTR	145	GBM-14-1450-TP	p.A769A	C	AGAAGAGAGTCGCAGCCACAC	NM_002019	NP_002010	28919630	P17948	VGFR1_HUMAN	0	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	16	2592	-	T	T	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Silent	769			Helical; (Potential).			
FLT1	0	broad.mit.edu	GRCh37	13	28877307	28877307	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-28-5207-01	TCGA-28-5207-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282397.4:c.4014C>G	p.Ile1338Met	p.I1338M	ENST00000282397	NM_002019.4	1338	atC/atG	0			1			C	I/M	uc001usb.3	protein_coding	YES	CCDS9330.1			4014/4017									lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	c.(4012-4014)ATC>ATG				fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)			ENSP00000282397		30/30									COSM3399319,COSM3399320	30/30	.		ENST00000282397	Transcript			cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	ENSG00000102755	g.chr13:28877307G>C	3763			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=VGFR1_HUMAN&rb=1306&re=1338&var=I1338M	NA	getma.org/?cm=var&var=hg19,13,28877307,G,C&fts=all	I1338M	--	--	1																																		FLT1_uc010aap.2_Missense_Mutation_p.I343M|FLT1_uc010aaq.2_Missense_Mutation_p.I463M|FLT1_uc001usa.3_Missense_Mutation_p.I556M	1,1	1		benign(0.177)	p.I1338M	NM_002019	NP_002010		deleterious_low_confidence(0)	1,1	VGFR1_HUMAN	FLT1	HGNC	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	S5U0M6_HUMAN,S5TRK2_HUMAN,L7RSL3_HUMAN,H9N1E8_HUMAN,H9N1E7_HUMAN		30	4299	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	UPI000013DCDD	1338			Cytoplasmic (Potential).		SNV	FLT1,missense_variant,p.Ile1338Met,ENST00000282397,NM_002019.4;FLT1,missense_variant,p.Ile556Met,ENST00000540678,;FLT1,missense_variant,p.Ile361Met,ENST00000543394,;	uc001usb.3	c.4014C>G	4266/7084	3	3			c.4014C>G						13	SNP	c.(4012-4014)ATC>ATG	63	63			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Broad	fms-related tyrosine kinase 1 isoform 1		Sunitinib(DB01268)	28877307		0.488	ENSG00000102755	5838	g.chr13:28877307G>C	cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			738			738	-10.493882	KEEP	5	3	-1	75	72	5	3	-1	17.633291	75	72	0.052632	1	0	0	0	0	1	0	0	0	--	--		0	C			FLT1_uc010aap.2_Missense_Mutation_p.I343M|FLT1_uc010aaq.2_Missense_Mutation_p.I463M|FLT1_uc001usa.3_Missense_Mutation_p.I556M	216	GBM-28-5207-TP	p.I1338M	G	TCAAACTCTAGATGGGTGGGG	NM_002019	NP_002010	28877307	P17948	VGFR1_HUMAN	0	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	30	4299	-	C	C	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Missense_Mutation	1338			Cytoplasmic (Potential).			
FLT3	2322	broad.mit.edu	GRCh37	13	28644701	28644701	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000241453.7:c.92C>T	p.Pro31Leu	p.P31L	ENST00000241453	NM_004119.2	31	cCt/cTt	0			1			A	P/L	uc001urw.2	protein_coding	YES	CCDS31953.1			92/2982	Mis|O				AML|ALL			p.P31L(1)	haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	c.(91-93)CCT>CTT				fms-related tyrosine kinase 3 precursor	Sorafenib(DB00398)|Sunitinib(DB01268)			ENSP00000241453		24-Feb									COSM42745	24-Feb	.		ENST00000241453	Transcript	1		positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	ENSG00000122025	g.chr13:28644701G>A	3765			MODERATE		0.46	neutral	getma.org/?cm=msa&ty=f&p=FLT3_HUMAN&rb=1&re=200&var=P31L	NA	getma.org/?cm=var&var=hg19,13,28644701,G,A&fts=all	P31L	--	--	1																																		FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.P31L	1	1		benign(0.013)	p.P31L	NM_004119	NP_004110		tolerated_low_confidence(0.18)	1	FLT3_HUMAN	FLT3	HGNC	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)			2	174	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	UPI00001FC90B	31			Extracellular (Potential).		SNV	FLT3,missense_variant,p.Pro31Leu,ENST00000380982,;FLT3,missense_variant,p.Pro31Leu,ENST00000241453,NM_004119.2;FLT3,missense_variant,p.Pro31Leu,ENST00000537084,;FLT3,missense_variant,p.Pro31Leu,ENST00000380987,;KATNBL1P1,downstream_gene_variant,,ENST00000605192,;	uc001urw.2	c.92C>T	174/3842	2	2			c.92C>T	Mis|O				AML|ALL	13	SNP	c.(91-93)CCT>CTT	20	20		p.P31L(1)	haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	Broad	fms-related tyrosine kinase 3 precursor		Sorafenib(DB00398)|Sunitinib(DB01268)	28644701		0.299	ENSG00000122025	5839	g.chr13:28644701G>A	positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			630			630	257.213677	KEEP	38	39	-1	43	49	38	39	-1	257.377217	43	49	0.465839	1	0	0	0	0	1	0	0	0	--	--		0	A			FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.P31L	12	GBM-06-0125-TP	p.P31L	G	CTTGATCACAGGCAGATCTTG	NM_004119	NP_004110	28644701	P36888	FLT3_HUMAN	0	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	2	174	-	A	A	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Missense_Mutation	31			Extracellular (Potential).			
FLT3	0	broad.mit.edu	GRCh37	13	28597589	28597589	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-12-0692-01	TCGA-12-0692-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000241453.7:c.2316A>T	p.Lys772Asn	p.K772N	ENST00000241453	NM_004119.2	772	aaA/aaT	0			1			A	K/N	uc001urw.2	protein_coding	YES	CCDS31953.1			2316/2982	Mis|O				AML|ALL				haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	c.(2314-2316)AAA>AAT			Pfam_domain:PF07714,PIRSF_domain:PIRSF000615,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF278,SMART_domains:SM00219,Superfamily_domains:SSF56112	fms-related tyrosine kinase 3 precursor	Sorafenib(DB00398)|Sunitinib(DB01268)			ENSP00000241453		19/24									COSM2154261	19/24	.		ENST00000241453	Transcript	1		positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	ENSG00000122025	g.chr13:28597589T>A	3765			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=FLT3_HUMAN&rb=610&re=943&var=K772N	getma.org/pdb.php?prot=FLT3_HUMAN&from=610&to=943&var=K772N	getma.org/?cm=var&var=hg19,13,28597589,T,A&fts=all	K772N	--	--	1																																		FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.K772N	1	1		possibly_damaging(0.858)	p.K772N	NM_004119	NP_004110		deleterious(0.04)	1	FLT3_HUMAN	FLT3	HGNC	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)			19	2398	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	UPI00001FC90B	772			Protein kinase.|Cytoplasmic (Potential).		SNV	FLT3,missense_variant,p.Lys772Asn,ENST00000380982,;FLT3,missense_variant,p.Lys772Asn,ENST00000241453,NM_004119.2;FLT3,missense_variant,p.Lys772Asn,ENST00000537084,;FLT3,3_prime_UTR_variant,,ENST00000380987,;	uc001urw.2	c.2316A>T	2398/3842	1	1			c.2316A>T	Mis|O				AML|ALL	13	SNP	c.(2314-2316)AAA>AAT	64	64			haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	Broad	fms-related tyrosine kinase 3 precursor		Sorafenib(DB00398)|Sunitinib(DB01268)	28597589		0.348	ENSG00000122025	5839	g.chr13:28597589T>A	positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			630			630	146.263448	KEEP	31	21	-1	26	30	31	21	-1	146.339038	26	30	0.471154	1	0	0	0	0	1	0	0	0	--	--		0	A			FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.K772N	122	GBM-12-0692-TP	p.K772N	T	CTTCCAGCCTTTTTTGGTTTT	NM_004119	NP_004110	28597589	P36888	FLT3_HUMAN	0	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	19	2398	-	A	A	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Missense_Mutation	772			Protein kinase.|Cytoplasmic (Potential).			
FLT3	0	broad.mit.edu	GRCh37	13	28592630	28592630	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-2623-01	TCGA-19-2623-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000241453.7:c.2515G>C	p.Asp839His	p.D839H	ENST00000241453	NM_004119.2	839	Gat/Cat	0			1			G	D/H	uc001urw.2	protein_coding	YES	CCDS31953.1			2515/2982	Mis|O				AML|ALL			p.D839?(2)	haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	c.(2515-2517)GAT>CAT			Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000615,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF278,SMART_domains:SM00219,Superfamily_domains:SSF56112	fms-related tyrosine kinase 3 precursor	Sorafenib(DB00398)|Sunitinib(DB01268)			ENSP00000241453		20/24									COSM3399304	20/24	.		ENST00000241453	Transcript	1		positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	ENSG00000122025	g.chr13:28592630C>G	3765			MODERATE		1.58	low	getma.org/?cm=msa&ty=f&p=FLT3_HUMAN&rb=610&re=943&var=D839H	getma.org/pdb.php?prot=FLT3_HUMAN&from=610&to=943&var=D839H	getma.org/?cm=var&var=hg19,13,28592630,C,G&fts=all	D839H	--	--	1																																		FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Intron	1	1		probably_damaging(1)	p.D839H	NM_004119	NP_004110		deleterious(0)	1	FLT3_HUMAN	FLT3	HGNC	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)			20	2597	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	UPI00001FC90B	839			Protein kinase.|Cytoplasmic (Potential).		SNV	FLT3,missense_variant,p.Asp839His,ENST00000380982,;FLT3,missense_variant,p.Asp839His,ENST00000241453,NM_004119.2;FLT3,intron_variant,,ENST00000537084,;FLT3,upstream_gene_variant,,ENST00000469894,;FLT3,3_prime_UTR_variant,,ENST00000380987,;	uc001urw.2	c.2515G>C	2597/3842	3	3			c.2515G>C	Mis|O				AML|ALL	13	SNP	c.(2515-2517)GAT>CAT	52	52		p.D839?(2)	haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	Broad	fms-related tyrosine kinase 3 precursor		Sorafenib(DB00398)|Sunitinib(DB01268)	28592630		0.453	ENSG00000122025	5839	g.chr13:28592630C>G	positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			630			630	107.412319	KEEP	18	17	-1	24	42	18	17	-1	109.093327	24	42	0.355556	1	0	0	0	0	1	0	0	0	--	--		0	G			FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Intron	163	GBM-19-2623-TP	p.D839H	C	TAGTTGGAATCACTCATGATA	NM_004119	NP_004110	28592630	P36888	FLT3_HUMAN	0	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	20	2597	-	G	G	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Missense_Mutation	839			Protein kinase.|Cytoplasmic (Potential).			
FLT3	0	broad.mit.edu	GRCh37	13	28636174	28636174	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-1838-01	TCGA-27-1838-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000241453.7:c.198G>A	p.Ala66=	p.A66=	ENST00000241453	NM_004119.2	66	gcG/gcA	0			1			T	A	uc001urw.2	protein_coding	YES	CCDS31953.1			198/2982	Mis|O				AML|ALL			p.599_560>LTGSSDNEYFYVDFREYEY(1)	haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	c.(196-198)GCG>GCA			PIRSF_domain:PIRSF000615	fms-related tyrosine kinase 3 precursor	Sorafenib(DB00398)|Sunitinib(DB01268)			ENSP00000241453		24-Mar	4.12E-05			0.000347		3.01E-05			rs752191320,COSM291026	24-Mar	.		ENST00000241453	Transcript	1		positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	ENSG00000122025	g.chr13:28636174C>T	3765			LOW								--	--	1																																		FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Silent_p.A66A	0,1	1			p.A66A	NM_004119	NP_004110			0,1	FLT3_HUMAN	FLT3	HGNC	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)			3	280	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	UPI00001FC90B	66			Extracellular (Potential).		SNV	FLT3,synonymous_variant,p.=,ENST00000380982,;FLT3,synonymous_variant,p.=,ENST00000241453,NM_004119.2;FLT3,synonymous_variant,p.=,ENST00000537084,;FLT3,synonymous_variant,p.=,ENST00000380987,;	uc001urw.2	c.198G>A	280/3842	2	2			c.198G>A	Mis|O				AML|ALL	13	SNP	c.(196-198)GCG>GCA	41	41		p.599_560>LTGSSDNEYFYVDFREYEY(1)	haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	Broad	fms-related tyrosine kinase 3 precursor		Sorafenib(DB00398)|Sunitinib(DB01268)	28636174		0.537	ENSG00000122025	5839	g.chr13:28636174C>T	positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			630			630	6.660565	KEEP	6	6	-1	64	55	6	6	-1	25.762965	64	55	0.094828	1	0	0	0	0	0	0	1	0	--	--		0	T			FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Silent_p.A66A	197	GBM-27-1838-TP	p.A66A	C	GGGGTCTCAACGCACACCCGA	NM_004119	NP_004110	28636174	P36888	FLT3_HUMAN	0	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	3	280	-	T	T	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Silent	66			Extracellular (Potential).			
FLT3	0	broad.mit.edu	GRCh37	13	28636176	28636176	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000241453.7:c.196G>A	p.Ala66Thr	p.A66T	ENST00000241453	NM_004119.2	66	Gcg/Acg	0			1			T	A/T	uc001urw.2	protein_coding	YES	CCDS31953.1			196/2982	Mis|O				AML|ALL			p.599_560>LTGSSDNEYFYVDFREYEY(1)	haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	c.(196-198)GCG>ACG			PIRSF_domain:PIRSF000615	fms-related tyrosine kinase 3 precursor	Sorafenib(DB00398)|Sunitinib(DB01268)			ENSP00000241453		24-Mar	8.24E-06					1.50E-05			rs572460566,COSM3399306	24-Mar	.		ENST00000241453	Transcript	1		positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	ENSG00000122025	g.chr13:28636176C>T	3765			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=FLT3_HUMAN&rb=1&re=200&var=A66T	NA	getma.org/?cm=var&var=hg19,13,28636176,C,T&fts=all	A66T	--	--	1																																		FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.A66T	0,1	1		benign(0.001)	p.A66T	NM_004119	NP_004110		tolerated(0.41)	0,1	FLT3_HUMAN	FLT3	HGNC	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)			3	278	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	UPI00001FC90B	66			Extracellular (Potential).		SNV	FLT3,missense_variant,p.Ala66Thr,ENST00000380982,;FLT3,missense_variant,p.Ala66Thr,ENST00000241453,NM_004119.2;FLT3,missense_variant,p.Ala66Thr,ENST00000537084,;FLT3,missense_variant,p.Ala66Thr,ENST00000380987,;	uc001urw.2	c.196G>A	278/3842	2	2			c.196G>A	Mis|O				AML|ALL	13	SNP	c.(196-198)GCG>ACG	33	33		p.599_560>LTGSSDNEYFYVDFREYEY(1)	haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	Broad	fms-related tyrosine kinase 3 precursor		Sorafenib(DB00398)|Sunitinib(DB01268)	28636176		0.532	ENSG00000122025	5839	g.chr13:28636176C>T	positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			630			630	152.228229	KEEP	35	37	-1	54	44	35	37	-1	153.628924	54	44	0.395833	1	0	0	0	0	1	0	0	0	--	--		0	T			FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.A66T	218	GBM-28-5209-TP	p.A66T	C	GGTCTCAACGCACACCCGAGG	NM_004119	NP_004110	28636176	P36888	FLT3_HUMAN	0	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	3	278	-	T	T	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Missense_Mutation	66			Extracellular (Potential).			
FLT3	2322		GRCh37	13	28592705	28592705	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000241453.7:c.2440G>A	p.Ala814Thr	p.A814T	ENST00000241453	NM_004119.2	814	Gcc/Acc	0																																																																																																																																																																																																																																												
FLT4	2324	broad.mit.edu	GRCh37	5	180048197	180048197	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0152-01	TCGA-06-0152-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261937.6:c.2076C>T	p.Ser692=	p.S692=	ENST00000261937	NM_182925.4	692	agC/agT	0			1			A	S	uc003mma.3	protein_coding	YES	CCDS4457.1			2076/4092									lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	c.(2074-2076)AGC>AGT			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF49,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	fms-related tyrosine kinase 4 isoform 2	Sorafenib(DB00398)|Sunitinib(DB01268)			ENSP00000261937		14/30									COSM1285008,COSM1285007,COSM1285009	14/30	.	Congenital_Hereditary_Lymphedema	ENST00000261937	Transcript	1		positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	ENSG00000037280	g.chr5:180048197G>A	3767			LOW								--	--	1																																		FLT4_uc003mlz.3_Silent_p.S692S|FLT4_uc003mmb.1_Silent_p.S225S|FLT4_uc011dgy.1_Silent_p.S692S	1,1,1	1			p.S692S	NM_002020	NP_002011			1,1,1	VGFR3_HUMAN	FLT4	HGNC	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	D6RFF2_HUMAN		14	2155	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	UPI00001488E7	692			Ig-like C2-type 7.|Extracellular (Potential).		SNV	FLT4,synonymous_variant,p.=,ENST00000261937,NM_182925.4;FLT4,synonymous_variant,p.=,ENST00000393347,NM_002020.4;FLT4,synonymous_variant,p.=,ENST00000502649,;FLT4,upstream_gene_variant,,ENST00000512795,;FLT4,non_coding_transcript_exon_variant,,ENST00000424276,;FLT4,non_coding_transcript_exon_variant,,ENST00000507059,;FLT4,upstream_gene_variant,,ENST00000514810,;	uc003mma.3	c.2076C>T	2155/5857	1	1			c.2076C>T						5	SNP	c.(2074-2076)AGC>AGT	61	61			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	Broad	fms-related tyrosine kinase 4 isoform 2		Sorafenib(DB00398)|Sunitinib(DB01268)	180048197	Congenital_Hereditary_Lymphedema	0.632	ENSG00000037280	5841	g.chr5:180048197G>A	positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	Colon(97;1075 1466 27033 27547 35871)		2638	Colon(97;1075 1466 27033 27547 35871)		2638	119.556213	KEEP	27	19	-1	39	30	27	19	-1	120.491641	39	30	0.398058	1	0	0	0	0	0	0	1	0	--	--		0	A			FLT4_uc003mlz.3_Silent_p.S692S|FLT4_uc003mmb.1_Silent_p.S225S|FLT4_uc011dgy.1_Silent_p.S692S	25	GBM-06-0152-TP	p.S692S	G	CCAGCGAGTCGCTCACGTTCA	NM_002020	NP_002011	180048197	P35916	VGFR3_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	14	2155	-	A	A	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Silent	692			Ig-like C2-type 7.|Extracellular (Potential).			
FLT4	2324	broad.mit.edu	GRCh37	5	180048669	180048669	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0155-01	TCGA-06-0155-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261937.6:c.1893G>A	p.Ala631=	p.A631=	ENST00000261937	NM_182925.4	631	gcG/gcA	0			1			T	A	uc003mma.3	protein_coding	YES	CCDS4457.1			1893/4092									lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	c.(1891-1893)GCG>GCA			Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF49,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	fms-related tyrosine kinase 4 isoform 2	Sorafenib(DB00398)|Sunitinib(DB01268)			ENSP00000261937		13/30									COSM2149957,COSM2149956,COSM2149958	13/30	.	Congenital_Hereditary_Lymphedema	ENST00000261937	Transcript	1		positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	ENSG00000037280	g.chr5:180048669C>T	3767			LOW								--	--	1																																		FLT4_uc003mlz.3_Silent_p.A631A|FLT4_uc003mmb.1_Silent_p.A164A|FLT4_uc011dgy.1_Silent_p.A631A	1,1,1	1			p.A631A	NM_002020	NP_002011			1,1,1	VGFR3_HUMAN	FLT4	HGNC	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	D6RFF2_HUMAN		13	1972	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	UPI00001488E7	631			Ig-like C2-type 6.|Extracellular (Potential).		SNV	FLT4,synonymous_variant,p.=,ENST00000261937,NM_182925.4;FLT4,synonymous_variant,p.=,ENST00000393347,NM_002020.4;FLT4,synonymous_variant,p.=,ENST00000502649,;FLT4,upstream_gene_variant,,ENST00000512795,;FLT4,non_coding_transcript_exon_variant,,ENST00000424276,;FLT4,non_coding_transcript_exon_variant,,ENST00000507059,;FLT4,upstream_gene_variant,,ENST00000514810,;	uc003mma.3	c.1893G>A	1972/5857	2	2			c.1893G>A						5	SNP	c.(1891-1893)GCG>GCA	33	33			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	Broad	fms-related tyrosine kinase 4 isoform 2		Sorafenib(DB00398)|Sunitinib(DB01268)	180048669	Congenital_Hereditary_Lymphedema	0.672	ENSG00000037280	5841	g.chr5:180048669C>T	positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	Colon(97;1075 1466 27033 27547 35871)		2638	Colon(97;1075 1466 27033 27547 35871)		2638	37.908371	KEEP	12	7	-1	15	16	12	7	-1	38.363088	15	16	0.378378	1	0	0	0	0	0	0	1	0	--	--		0	T			FLT4_uc003mlz.3_Silent_p.A631A|FLT4_uc003mmb.1_Silent_p.A164A|FLT4_uc011dgy.1_Silent_p.A631A	27	GBM-06-0155-TP	p.A631A	C	TGGCGTGGCGCGCCCCAGGTG	NM_002020	NP_002011	180048669	P35916	VGFR3_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	13	1972	-	T	T	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Silent	631			Ig-like C2-type 6.|Extracellular (Potential).			
FLT4	0	broad.mit.edu	GRCh37	5	180041121	180041121	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01	TCGA-06-6695-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261937.6:c.3278C>T	p.Thr1093Met	p.T1093M	ENST00000261937	NM_182925.4	1093	aCg/aTg	0			1			A	T/M	uc003mma.3	protein_coding	YES	CCDS4457.1			3278/4092									lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	c.(3277-3279)ACG>ATG			Gene3D:1.10.510.10,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF49,SMART_domains:SM00219,Superfamily_domains:SSF56112	fms-related tyrosine kinase 4 isoform 2	Sorafenib(DB00398)|Sunitinib(DB01268)			ENSP00000261937		24/30	1.65E-05		8.64E-05					6.06E-05	rs770869636,COSM3410194,COSM3410193	24/30	.	Congenital_Hereditary_Lymphedema	ENST00000261937	Transcript	1		positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	ENSG00000037280	g.chr5:180041121G>A	3767			MODERATE		1.725	low	getma.org/?cm=msa&ty=f&p=VGFR3_HUMAN&rb=845&re=1169&var=T1093M	getma.org/pdb.php?prot=VGFR3_HUMAN&from=845&to=1169&var=T1093M	getma.org/?cm=var&var=hg19,5,180041121,G,A&fts=all	T1093M	--	--	1																																		FLT4_uc003mlz.3_Missense_Mutation_p.T1093M	0,1,1	1		probably_damaging(0.934)	p.T1093M	NM_002020	NP_002011		deleterious(0.01)	0,1,1	VGFR3_HUMAN	FLT4	HGNC	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	D6RFF2_HUMAN		24	3357	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	UPI00001488E7	1093			Cytoplasmic (Potential).|Protein kinase.		SNV	FLT4,missense_variant,p.Thr1093Met,ENST00000261937,NM_182925.4;FLT4,missense_variant,p.Thr1093Met,ENST00000393347,NM_002020.4;FLT4,missense_variant,p.Thr1093Met,ENST00000502649,;FLT4,missense_variant,p.Thr131Met,ENST00000512795,;FLT4,non_coding_transcript_exon_variant,,ENST00000507059,;FLT4,non_coding_transcript_exon_variant,,ENST00000514810,;FLT4,upstream_gene_variant,,ENST00000502603,;FLT4,upstream_gene_variant,,ENST00000510000,;	uc003mma.3	c.3278C>T	3357/5857	2	2			c.3278C>T						5	SNP	c.(3277-3279)ACG>ATG	26	26			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	Broad	fms-related tyrosine kinase 4 isoform 2		Sorafenib(DB00398)|Sunitinib(DB01268)	180041121	Congenital_Hereditary_Lymphedema	0.622	ENSG00000037280	5841	g.chr5:180041121G>A	positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	Colon(97;1075 1466 27033 27547 35871)		2638	Colon(97;1075 1466 27033 27547 35871)		2638	79.058609	KEEP	16	26	-1	26	51	16	26	-1	82.210949	26	51	0.313725	1	0	0	0	0	1	0	0	0	--	--		0	A			FLT4_uc003mlz.3_Missense_Mutation_p.T1093M	110	GBM-06-6695-TP	p.T1093M	G	GTCACTCTGCGTGGTGTACAC	NM_002020	NP_002011	180041121	P35916	VGFR3_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	24	3357	-	A	A	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Missense_Mutation	1093			Cytoplasmic (Potential).|Protein kinase.			
FLT4	0	broad.mit.edu	GRCh37	5	180048603	180048603	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0688-01	TCGA-12-0688-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261937.6:c.1959C>T	p.Cys653=	p.C653=	ENST00000261937	NM_182925.4	653	tgC/tgT	0	A:0.0002		1			A	C	uc003mma.3	protein_coding	YES	CCDS4457.1			1959/4092									lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	c.(1957-1959)TGC>TGT			Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF49,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	fms-related tyrosine kinase 4 isoform 2	Sorafenib(DB00398)|Sunitinib(DB01268)		A:0	ENSP00000261937		13/30	4.13E-05	0.00041						6.29E-05	rs373635248,COSM2153889,COSM2153888,COSM2153890	13/30	common_variant	Congenital_Hereditary_Lymphedema	ENST00000261937	Transcript	1		positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	ENSG00000037280	g.chr5:180048603G>A	3767			LOW								--	--	1																																		FLT4_uc003mlz.3_Silent_p.C653C|FLT4_uc003mmb.1_Silent_p.C186C|FLT4_uc011dgy.1_Silent_p.C653C	0,1,1,1	1			p.C653C	NM_002020	NP_002011			0,1,1,1	VGFR3_HUMAN	FLT4	HGNC	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	D6RFF2_HUMAN		13	2038	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	UPI00001488E7	653			Ig-like C2-type 6.|Extracellular (Potential).		SNV	FLT4,synonymous_variant,p.=,ENST00000261937,NM_182925.4;FLT4,synonymous_variant,p.=,ENST00000393347,NM_002020.4;FLT4,synonymous_variant,p.=,ENST00000502649,;FLT4,upstream_gene_variant,,ENST00000512795,;FLT4,non_coding_transcript_exon_variant,,ENST00000424276,;FLT4,non_coding_transcript_exon_variant,,ENST00000507059,;FLT4,upstream_gene_variant,,ENST00000514810,;	uc003mma.3	c.1959C>T	2038/5857	1	1			c.1959C>T						5	SNP	c.(1957-1959)TGC>TGT	61	61			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	Broad	fms-related tyrosine kinase 4 isoform 2		Sorafenib(DB00398)|Sunitinib(DB01268)	180048603	Congenital_Hereditary_Lymphedema	0.697	ENSG00000037280	5841	g.chr5:180048603G>A	positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	Colon(97;1075 1466 27033 27547 35871)		2638	Colon(97;1075 1466 27033 27547 35871)		2638	101.348508	KEEP	19	17	-1	15	18	19	17	-1	101.378444	15	18	0.523077	1	0	0	0	0	0	0	1	0	--	--		0	A			FLT4_uc003mlz.3_Silent_p.C653C|FLT4_uc003mmb.1_Silent_p.C186C|FLT4_uc011dgy.1_Silent_p.C653C	121	GBM-12-0688-TP	p.C653C	G	CTTGCACTTCGCACACATAGT	NM_002020	NP_002011	180048603	P35916	VGFR3_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	13	2038	-	A	A	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Silent	653			Ig-like C2-type 6.|Extracellular (Potential).			
FLVCR2	55640		GRCh37	14	76107379	76107379	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000238667.4:c.1317C>T	p.Ser439=	p.S439=	ENST00000238667	NM_017791.2	439	tcC/tcT	0																																																																																																																																																																																																																																												
FMN1	0	broad.mit.edu	GRCh37	15	33358855	33358855	+	intron_variant	Intron	SNP	G	G	A			TCGA-19-2623-01	TCGA-19-2623-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000559047.1:c.2044-1580C>T		*682*	ENST00000559047	NM_001277313.1			0	A:0		1			A		uc001zhf.3	protein_coding		CCDS61581.1			-/4260									ovary(1)	1	c.(1231-1233)CGG>TGG				formin 1			A:0.0001	ENSP00000454047			8.27E-06					1.50E-05			rs372474008,COSM3401670		.		ENST00000559047	Transcript			actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	ENSG00000248905	g.chr15:33358855G>A	3768			MODIFIER	17-Feb							--	--	1																																		FMN1_uc001zhg.2_Missense_Mutation_p.R411W	0,1				p.R411W	NM_001103184	NP_001096654			0,1	FMN1_HUMAN	FMN1	HGNC	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)			1	1231	-		all_lung(180;1.14e-07)	UPI0001AE68B4	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					SNV	FMN1,missense_variant,p.Arg411Trp,ENST00000334528,NM_001103184.3;FMN1,missense_variant,p.Arg411Trp,ENST00000558197,;FMN1,intron_variant,,ENST00000559047,NM_001277313.1;FMN1,intron_variant,,ENST00000561249,;FMN1,intron_variant,,ENST00000559150,;	uc001zhf.3	c.1231C>T	-/4260	2	2			c.1231C>T						15	SNP	c.(1231-1233)CGG>TGG	32	32			ovary(1)	1	Broad	formin 1			33358855		0.567	ENSG00000248905	5846	g.chr15:33358855G>A	actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding							75.877942	KEEP	15	14	-1	44	35	15	14	-1	79.855712	44	35	0.284211	1	0	0	0	0	1	0	0	0	--	--		0	A			FMN1_uc001zhg.2_Missense_Mutation_p.R411W	163	GBM-19-2623-TP	p.R411W	G	CTGGGGGGCCGGATGAATAGG	NM_001103184	NP_001096654	33358855	Q68DA7	FMN1_HUMAN	0		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	1	1231	-	A	A		all_lung(180;1.14e-07)	Missense_Mutation	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						
FMN1	0	broad.mit.edu	GRCh37	15	33261285	33261285	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000559047.1:c.2617G>A	p.Ala873Thr	p.A873T	ENST00000559047	NM_001277313.1	873	Gca/Aca	0	T:0.0002	A:0.0008	1	A:0		T	A/T	uc001zhf.3	protein_coding		CCDS61581.1			2617/4260									ovary(1)	1	c.(1948-1950)GCA>ACA			Low_complexity_(Seg):seg,hmmpanther:PTHR13037:SF9,hmmpanther:PTHR13037	formin 1		A:0	T:0.0001	ENSP00000454047	A:0	18-May									rs372119445,COSM256971,COSM256972	18-May	.		ENST00000559047	Transcript		A:0.0002	actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	ENSG00000248905	g.chr15:33261285C>T	3768			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=FMN1_HUMAN&rb=870&re=957&var=A873T	NA	getma.org/?cm=var&var=hg19,15,33261285,C,T&fts=all	A873T	--	--	1																																			0,1,1			unknown(0)	p.A650T	NM_001103184	NP_001096654	A:0		0,1,1	FMN1_HUMAN	FMN1	HGNC	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)			4	1948	-		all_lung(180;1.14e-07)	UPI0001AE68B4	873			FH1.|Pro-rich.		SNV	FMN1,missense_variant,p.Ala650Thr,ENST00000334528,NM_001103184.3;FMN1,missense_variant,p.Ala873Thr,ENST00000559047,NM_001277313.1;FMN1,missense_variant,p.Ala775Thr,ENST00000561249,;SNORD77,upstream_gene_variant,,ENST00000391113,;	uc001zhf.3	c.1948G>A	2617/4260	1	1			c.1948G>A						15	SNP	c.(1948-1950)GCA>ACA	3	3			ovary(1)	1	Broad	formin 1			33261285		0.552	ENSG00000248905	5846	g.chr15:33261285C>T	actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding							28.445997	KEEP	2	9	-1	7	6	2	9	-1	28.485763	7	6	0.454545	1	0	0	0	0	1	0	0	0	--	--		0	T				177	GBM-19-5959-TP	p.A650T	C	GGGATGGATGCGGGAGGCGGA	NM_001103184	NP_001096654	33261285	Q68DA7	FMN1_HUMAN	0		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	4	1948	-	T	T		all_lung(180;1.14e-07)	Missense_Mutation	873			FH1.|Pro-rich.			
FMN1	0	broad.mit.edu	GRCh37	15	33359642	33359642	+	intron_variant	Intron	SNP	A	A	G			TCGA-28-5214-01	TCGA-28-5214-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000559047.1:c.2044-2367T>C		*682*	ENST00000559047	NM_001277313.1			0			1			G		uc001zhf.3	protein_coding		CCDS61581.1			-/4260									ovary(1)	1	c.(442-444)TCT>TCC				formin 1				ENSP00000454047											COSM3401671		.		ENST00000559047	Transcript			actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	ENSG00000248905	g.chr15:33359642A>G	3768			MODIFIER	17-Feb							--	--	1																																		FMN1_uc001zhg.2_Silent_p.S148S	1				p.S148S	NM_001103184	NP_001096654			1	FMN1_HUMAN	FMN1	HGNC	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)			1	444	-		all_lung(180;1.14e-07)	UPI0001AE68B4	Error:Variant_position_missing_in_Q68DA7_after_alignment					SNV	FMN1,synonymous_variant,p.=,ENST00000334528,NM_001103184.3;FMN1,synonymous_variant,p.=,ENST00000558197,;FMN1,intron_variant,,ENST00000559047,NM_001277313.1;FMN1,intron_variant,,ENST00000561249,;FMN1,intron_variant,,ENST00000559150,;	uc001zhf.3	c.444T>C	-/4260	4	4			c.444T>C						15	SNP	c.(442-444)TCT>TCC	20	20			ovary(1)	1	Broad	formin 1			33359642		0.522	ENSG00000248905	5846	g.chr15:33359642A>G	actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding							125.323578	KEEP	28	24	-1	45	67	28	24	-1	131.525161	45	67	0.287582	1	0	0	0	0	0	0	1	0	--	--		0	G			FMN1_uc001zhg.2_Silent_p.S148S	221	GBM-28-5214-TP	p.S148S	A	CATCAGAGTCAGAATCACTGG	NM_001103184	NP_001096654	33359642	Q68DA7	FMN1_HUMAN	0		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	1	444	-	G	G		all_lung(180;1.14e-07)	Silent	Error:Variant_position_missing_in_Q68DA7_after_alignment						
FMN1	0	broad.mit.edu	GRCh37	15	33359812	33359812	+	intron_variant	Intron	SNP	C	C	T			TCGA-76-6191-01	TCGA-76-6191-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000559047.1:c.2044-2537G>A		*682*	ENST00000559047	NM_001277313.1			0	T:0		1			T		uc001zhf.3	protein_coding		CCDS61581.1			-/4260									ovary(1)	1	c.(274-276)GGA>AGA				formin 1			T:0.0001	ENSP00000454047			3.31E-05	0.000102		0.000348					rs373274569		.		ENST00000559047	Transcript			actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	ENSG00000248905	g.chr15:33359812C>T	3768			MODIFIER	17-Feb							--	--	1																																		FMN1_uc001zhg.2_Missense_Mutation_p.G92R					p.G92R	NM_001103184	NP_001096654				FMN1_HUMAN	FMN1	HGNC	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)			1	274	-		all_lung(180;1.14e-07)	UPI0001AE68B4	Error:Variant_position_missing_in_Q68DA7_after_alignment					SNV	FMN1,missense_variant,p.Gly92Arg,ENST00000334528,NM_001103184.3;FMN1,missense_variant,p.Gly92Arg,ENST00000558197,;FMN1,intron_variant,,ENST00000559047,NM_001277313.1;FMN1,intron_variant,,ENST00000561249,;FMN1,intron_variant,,ENST00000559150,;	uc001zhf.3	c.274G>A	-/4260	1	1			c.274G>A						15	SNP	c.(274-276)GGA>AGA	15	15			ovary(1)	1	Broad	formin 1			33359812		0.493	ENSG00000248905	5846	g.chr15:33359812C>T	actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding							18.447411	KEEP	4	7	-1	20	35	4	7	-1	25.483103	20	35	0.15	1	0	0	0	0	1	0	0	0	--	--		0	T			FMN1_uc001zhg.2_Missense_Mutation_p.G92R	274	GBM-76-6191-TP	p.G92R	C	TCATCATTTCCGAGGTCAGGT	NM_001103184	NP_001096654	33359812	Q68DA7	FMN1_HUMAN	0		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	1	274	-	T	T		all_lung(180;1.14e-07)	Missense_Mutation	Error:Variant_position_missing_in_Q68DA7_after_alignment						
FMN1	342184		GRCh37	15	33261062	33261062	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000334528.9:c.2171C>T	p.Pro724Leu	p.P724L	ENST00000334528	NM_001103184.3	724	cCa/cTa	0																																																																																																																																																																																																																																												
FMNL1	0	broad.mit.edu	GRCh37	17	43322740	43322740	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01	TCGA-27-2524-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331495.3:c.2849C>T	p.Ser950Leu	p.S950L	ENST00000331495	NM_005892.3	950	tCg/tTg	0			1			T	S/L	uc002iin.2	protein_coding	YES	CCDS11497.1			2849/3303									pancreas(1)	1	c.(2848-2850)TCG>TTG			Pfam_domain:PF02181,PROSITE_profiles:PS51444,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF188,SMART_domains:SM00498,Superfamily_domains:SSF101447	formin-like 1				ENSP00000329219		22/27	2.47E-05					4.52E-05			rs775304686,COSM3402943	22/27	.		ENST00000331495	Transcript			actin cytoskeleton organization		actin binding|Rho GTPase binding	ENSG00000184922	g.chr17:43322740C>T	1212			MODERATE		1.72	low	getma.org/?cm=msa&ty=f&p=FMNL_HUMAN&rb=632&re=998&var=S950L	getma.org/pdb.php?prot=FMNL_HUMAN&from=632&to=998&var=S950L	getma.org/?cm=var&var=hg19,17,43322740,C,T&fts=all	S950L	--	--	1																																		FMNL1_uc002iiq.2_Missense_Mutation_p.S528L|FMNL1_uc010dag.2_RNA|LOC100133991_uc010dah.2_5'Flank	0,1	1		possibly_damaging(0.701)	p.S950L	NM_005892	NP_005883		deleterious(0.03)	0,1	FMNL_HUMAN	FMNL1	HGNC	O95466	FMNL_HUMAN					22	3049	+			UPI0000246EE9	950			FH2.		SNV	FMNL1,missense_variant,p.Ser950Leu,ENST00000331495,NM_005892.3;FMNL1,missense_variant,p.Ser950Leu,ENST00000328118,;FMNL1,missense_variant,p.Ser528Leu,ENST00000587489,;FMNL1,missense_variant,p.Ser280Leu,ENST00000586643,;FMNL1,missense_variant,p.Ser17Leu,ENST00000589911,;FMNL1,missense_variant,p.Ser17Leu,ENST00000586092,;CTD-2020K17.4,intron_variant,,ENST00000420431,;CTD-2020K17.3,upstream_gene_variant,,ENST00000587534,;MAP3K14-AS1,upstream_gene_variant,,ENST00000590100,;MAP3K14-AS1,upstream_gene_variant,,ENST00000592422,;CTD-2020K17.4,downstream_gene_variant,,ENST00000591361,;MAP3K14-AS1,upstream_gene_variant,,ENST00000588504,;MAP3K14-AS1,upstream_gene_variant,,ENST00000585346,;MAP3K14-AS1,upstream_gene_variant,,ENST00000588698,;MAP3K14-AS1,upstream_gene_variant,,ENST00000591263,;CTD-2020K17.4,downstream_gene_variant,,ENST00000589518,;CTD-2020K17.3,upstream_gene_variant,,ENST00000393507,;FMNL1,non_coding_transcript_exon_variant,,ENST00000587856,;	uc002iin.2	c.2849C>T	3185/4101	2	2			c.2849C>T						17	SNP	c.(2848-2850)TCG>TTG	43	43			pancreas(1)	1	Broad	formin-like 1			43322740		0.617	ENSG00000184922	5848	g.chr17:43322740C>T	actin cytoskeleton organization		actin binding|Rho GTPase binding	GBM(164;1247 1997 8702 11086 51972)			GBM(164;1247 1997 8702 11086 51972)			113.641945	KEEP	23	19	-1	46	41	23	19	-1	116.298578	46	41	0.341667	1	0	0	0	0	1	0	0	0	--	--		0	T			FMNL1_uc002iiq.2_Missense_Mutation_p.S528L|FMNL1_uc010dag.2_RNA|LOC100133991_uc010dah.2_5'Flank	202	GBM-27-2524-TP	p.S950L	C	AGGGCCAACTCGCCCACCATG	NM_005892	NP_005883	43322740	O95466	FMNL_HUMAN	0			22	3049	+	T	T			Missense_Mutation	950			FH2.			
FMNL1	0	broad.mit.edu	GRCh37	17	43320637	43320637	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331495.3:c.2163C>T	p.Thr721=	p.T721=	ENST00000331495	NM_005892.3	721	acC/acT	0			1			T	T	uc002iin.2	protein_coding	YES	CCDS11497.1			2163/3303									pancreas(1)	1	c.(2161-2163)ACC>ACT			Pfam_domain:PF02181,PROSITE_profiles:PS51444,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF188,SMART_domains:SM00498,Superfamily_domains:SSF101447	formin-like 1				ENSP00000329219		17/27									COSM3402942	17/27	.		ENST00000331495	Transcript			actin cytoskeleton organization		actin binding|Rho GTPase binding	ENSG00000184922	g.chr17:43320637C>T	1212			LOW								--	--	1																																		FMNL1_uc002iiq.2_Silent_p.T299T|FMNL1_uc010dag.2_RNA	1	1			p.T721T	NM_005892	NP_005883			1	FMNL_HUMAN	FMNL1	HGNC	O95466	FMNL_HUMAN					17	2363	+			UPI0000246EE9	721			FH2.		SNV	FMNL1,synonymous_variant,p.=,ENST00000331495,NM_005892.3;FMNL1,synonymous_variant,p.=,ENST00000328118,;FMNL1,synonymous_variant,p.=,ENST00000587489,;FMNL1,synonymous_variant,p.=,ENST00000586643,;FMNL1,upstream_gene_variant,,ENST00000589911,;FMNL1,upstream_gene_variant,,ENST00000586092,;CTD-2020K17.3,upstream_gene_variant,,ENST00000587534,;MAP3K14-AS1,upstream_gene_variant,,ENST00000590100,;MAP3K14-AS1,upstream_gene_variant,,ENST00000592422,;CTD-2020K17.4,downstream_gene_variant,,ENST00000420431,;CTD-2020K17.4,downstream_gene_variant,,ENST00000591361,;MAP3K14-AS1,upstream_gene_variant,,ENST00000588504,;MAP3K14-AS1,upstream_gene_variant,,ENST00000585346,;MAP3K14-AS1,upstream_gene_variant,,ENST00000588698,;MAP3K14-AS1,upstream_gene_variant,,ENST00000591263,;CTD-2020K17.4,downstream_gene_variant,,ENST00000589518,;CTD-2020K17.3,upstream_gene_variant,,ENST00000393507,;FMNL1,downstream_gene_variant,,ENST00000592006,;FMNL1,non_coding_transcript_exon_variant,,ENST00000587856,;	uc002iin.2	c.2163C>T	2499/4101	2	2			c.2163C>T						17	SNP	c.(2161-2163)ACC>ACT	25	25			pancreas(1)	1	Broad	formin-like 1			43320637		0.642	ENSG00000184922	5848	g.chr17:43320637C>T	actin cytoskeleton organization		actin binding|Rho GTPase binding	GBM(164;1247 1997 8702 11086 51972)			GBM(164;1247 1997 8702 11086 51972)			95.373828	KEEP	16	19	-1	27	40	16	19	-1	97.858148	27	40	0.329897	1	0	0	0	0	0	0	1	0	--	--		0	T			FMNL1_uc002iiq.2_Silent_p.T299T|FMNL1_uc010dag.2_RNA	269	GBM-76-4929-TP	p.T721T	C	TGGCCATCACCCTGCGGAAGG	NM_005892	NP_005883	43320637	O95466	FMNL_HUMAN	0			17	2363	+	T	T			Silent	721			FH2.			
FMNL2	0	broad.mit.edu	GRCh37	2	153399316	153399316	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5133-01	TCGA-26-5133-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288670.9:c.265C>T	p.Pro89Ser	p.P89S	ENST00000288670	NM_052905.3	89	Cca/Tca	0			1			T	P/S	uc002tye.2	protein_coding	YES	CCDS46429.1			265/3279									central_nervous_system(2)|ovary(1)	3	c.(265-267)CCA>TCA			PROSITE_profiles:PS51232,hmmpanther:PTHR23213:SF180,hmmpanther:PTHR23213,Pfam_domain:PF06371,Superfamily_domains:SSF48371	formin-like 2				ENSP00000288670		26-Mar									COSM3406942	26-Mar	.		ENST00000288670	Transcript			actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding	ENSG00000157827	g.chr2:153399316C>T	18267			MODERATE		1.925	medium	getma.org/?cm=msa&ty=f&p=FMNL2_HUMAN&rb=23&re=159&var=P89S	NA	getma.org/?cm=var&var=hg19,2,153399316,C,T&fts=all	P89S	--	--	1																																			1	1		benign(0.113)	p.P89S	NM_052905	NP_443137			1	FMNL2_HUMAN	FMNL2	HGNC	Q96PY5	FMNL2_HUMAN			B3KT32_HUMAN		3	632	+			UPI0000441EF9	89			GBD/FH3.		SNV	FMNL2,missense_variant,p.Pro89Ser,ENST00000288670,NM_052905.3;RP11-17G11.1,upstream_gene_variant,,ENST00000605605,;	uc002tye.2	c.265C>T	632/5575	1	1			c.265C>T						2	SNP	c.(265-267)CCA>TCA	12	12			central_nervous_system(2)|ovary(1)	3	Broad	formin-like 2			153399316		0.433	ENSG00000157827	5849	g.chr2:153399316C>T	actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding							145.165527	KEEP	30	27	-1	62	59	30	27	-1	148.687425	62	59	0.337748	1	0	0	0	0	1	0	0	0	--	--		0	T				182	GBM-26-5133-TP	p.P89S	C	CTATCTGGATCCAGCTGTAAC	NM_052905	NP_443137	153399316	Q96PY5	FMNL2_HUMAN	0			3	632	+	T	T			Missense_Mutation	89			GBD/FH3.			
FMNL2	114793		GRCh37	2	153463859	153463859	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000288670.9:c.883G>A	p.Gly295Arg	p.G295R	ENST00000288670	NM_052905.3	295	Gga/Aga	0																																																																																																																																																																																																																																												
FMO3	0	broad.mit.edu	GRCh37	1	171080061	171080061	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367755.4:c.750C>T	p.Ala250=	p.A250=	ENST00000367755	NM_001002294.2	250	gcC/gcT	0			1			T	A	uc001ghi.2	protein_coding	YES	CCDS1292.1			750/1599									skin(1)	1	c.(748-750)GCC>GCT			Pfam_domain:PF00743,PIRSF_domain:PIRSF000332,Prints_domain:PR01123,hmmpanther:PTHR23023,hmmpanther:PTHR23023:SF44	flavin containing monooxygenase 3				ENSP00000356729		9-Jun									COSM3399996	9-Jun	.		ENST00000367755	Transcript	1		xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	ENSG00000007933	g.chr1:171080061C>T	3771			LOW								--	--	1																																		FMO3_uc001ghh.2_Silent_p.A250A|FMO3_uc010pmb.1_Silent_p.A230A|FMO3_uc010pmc.1_Silent_p.A187A	1	1			p.A250A	NM_001002294	NP_001002294			1	FMO3_HUMAN	FMO3	HGNC	P31513	FMO3_HUMAN					6	861	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		UPI000016A103	250					SNV	FMO3,synonymous_variant,p.=,ENST00000367755,NM_001002294.2;FMO3,synonymous_variant,p.=,ENST00000392085,NM_006894.5;FMO3,synonymous_variant,p.=,ENST00000542847,;FMO3,synonymous_variant,p.=,ENST00000538429,;FMO3,downstream_gene_variant,,ENST00000479749,;FMO3,downstream_gene_variant,,ENST00000478457,;FMO3,downstream_gene_variant,,ENST00000472784,;	uc001ghi.2	c.750C>T	861/2087	1	1			c.750C>T						1	SNP	c.(748-750)GCC>GCT	3	3			skin(1)	1	Broad	flavin containing monooxygenase 3			171080061		0.468	ENSG00000007933	5853	g.chr1:171080061C>T	xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity							-61.946103	KEEP	4	3	-1	150	156	4	3	-1	9.044405	150	156	0.024735	1	0	0	0	0	0	0	1	0	--	--		0	T			FMO3_uc001ghh.2_Silent_p.A250A|FMO3_uc010pmb.1_Silent_p.A230A|FMO3_uc010pmc.1_Silent_p.A187A	131	GBM-12-5301-TP	p.A250A	C	TACCGACAGCCATCTCTGACT	NM_001002294	NP_001002294	171080061	P31513	FMO3_HUMAN	0			6	861	+	T	T	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		Silent	250						
FMOD	2331	broad.mit.edu	GRCh37	1	203316988	203316988	+	synonymous_variant	Silent	SNP	G	G	A	rs141206727		TCGA-06-0192-01	TCGA-06-0192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354955.4:c.411C>T	p.His137=	p.H137=	ENST00000354955	NM_002023.4	137	caC/caT	0			1			A	H	uc001gzr.2	protein_coding	YES	CCDS30976.1			411/1131									ovary(2)|breast(1)	3	c.(409-411)CAC>CAT			hmmpanther:PTHR24371:SF11,hmmpanther:PTHR24371,Gene3D:3.80.10.10,Pfam_domain:PF13855,Superfamily_domains:SSF52058	fibromodulin precursor				ENSP00000347041		3-Feb	7.41E-05			0.000116		8.99E-05		0.000121	rs768544358,COSM3400219	3-Feb	.		ENST00000354955	Transcript			transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		ENSG00000122176	g.chr1:203316988G>A	3774			LOW								--	--	1																																		FMOD_uc010pqi.1_RNA	0,1	1			p.H137H	NM_002023	NP_002014			0,1	FMOD_HUMAN	FMOD	HGNC	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		Q12833_HUMAN,B4E1J3_HUMAN		2	547	-			UPI00000746A2	137			LRR 2.		SNV	FMOD,synonymous_variant,p.=,ENST00000354955,NM_002023.4;FMOD,intron_variant,,ENST00000493296,;FMOD,intron_variant,,ENST00000461936,;	uc001gzr.2	c.411C>T	875/3310	2	2			c.411C>T						1	SNP	c.(409-411)CAC>CAT	24	24			ovary(2)|breast(1)	3	Broad	fibromodulin precursor			203316988		0.557	ENSG00000122176	5856	g.chr1:203316988G>A	transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix								-2.042963	KEEP	7	3	-1	80	44	7	3	-1	20.453773	80	44	0.08	1	0	0	0	0	0	0	1	0	--	--		0	A			FMOD_uc010pqi.1_RNA	44	GBM-06-0192-TP	p.H137H	G	TCTGGTTGCCGTGGAGAGCAA	NM_002023	NP_002014	203316988	Q06828	FMOD_HUMAN	0	BRCA - Breast invasive adenocarcinoma(75;0.171)		2	547	-	A	A			Silent	137			LRR 2.			
FMR1NB	158521	broad.mit.edu	GRCh37	X	147063166	147063166	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0650-01	TCGA-06-0650-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370467.3:c.244G>A	p.Val82Met	p.V82M	ENST00000370467	NM_152578.2	82	Gtg/Atg	0			1			A	V/M	uc004fcm.2	protein_coding	YES	CCDS14683.1			244/768									ovary(1)	1	c.(244-246)GTG>ATG			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	fragile X mental retardation 1 neighbor				ENSP00000359498		6-Jan									COSM3406046	6-Jan	.		ENST00000370467	Transcript				integral to membrane		ENSG00000176988	g.chrX:147063166G>A	26372			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=FMR1N_HUMAN&rb=1&re=254&var=V82M	NA	getma.org/?cm=var&var=hg19,X,147063166,G,A&fts=all	V82M	--	--	1																																			1	1		possibly_damaging(0.791)	p.V82M	NM_152578	NP_689791		tolerated(0.11)	1	FMR1N_HUMAN	FMR1NB	HGNC	Q8N0W7	FMR1N_HUMAN			F2Z3J3_HUMAN		1	318	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI0000062299	82			Helical; (Potential).		SNV	FMR1NB,missense_variant,p.Val82Met,ENST00000370467,NM_152578.2;	uc004fcm.2	c.244G>A	318/1021	1	1			c.244G>A						23	SNP	c.(244-246)GTG>ATG	50	50			ovary(1)	1	Broad	fragile X mental retardation 1 neighbor			147063166		0.493	ENSG00000176988	5858	g.chrX:147063166G>A		integral to membrane								4.913717	KEEP	9	13	-1	110	129	9	13	-1	40.6456	110	129	0.083744	1	0	0	0	0	1	0	0	0	--	--		0	A				63	GBM-06-0650-TP	p.V82M	G	CCTGCTGTTCGTGTGCTACTA	NM_152578	NP_689791	147063166	Q8N0W7	FMR1N_HUMAN	0			1	318	+	A	A	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	82			Helical; (Potential).			
FMR1NB	158521		GRCh37	X	147088330	147088330	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000370467.3:c.506C>T	p.Thr169Met	p.T169M	ENST00000370467	NM_152578.2	169	aCg/aTg	0																																																																																																																																																																																																																																												
FN1	0	broad.mit.edu	GRCh37	2	216288171	216288171	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-12-5295-01	TCGA-12-5295-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359671.1:c.1295delC	p.Thr432MetfsTer12	p.T432Mfs*12	ENST00000359671		432	aCt/at	0			1			-	T/X	uc002vfa.2	protein_coding					1295/7161									central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13	c.(1294-1296)ACTfs			Gene3D:2.10.10.10,Pfam_domain:PF00040,PROSITE_patterns:PS00023,PROSITE_profiles:PS51092,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF187,SMART_domains:SM00059,Superfamily_domains:SSF57440	fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)			ENSP00000352696		Sep-45										Sep-45	.		ENST00000359671	Transcript	1		acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	ENSG00000115414	g.chr2:216288171delG	3778			HIGH								--	--	1																																		FN1_uc002vfb.2_Frame_Shift_Del_p.T432fs|FN1_uc002vfc.2_Frame_Shift_Del_p.T432fs|FN1_uc002vfd.2_Frame_Shift_Del_p.T432fs|FN1_uc002vfe.2_Frame_Shift_Del_p.T432fs|FN1_uc002vff.2_Frame_Shift_Del_p.T432fs|FN1_uc002vfg.2_Frame_Shift_Del_p.T432fs|FN1_uc002vfh.2_Frame_Shift_Del_p.T432fs|FN1_uc002vfi.2_Frame_Shift_Del_p.T432fs|FN1_uc002vfj.2_Frame_Shift_Del_p.T432fs|FN1_uc002vfl.2_Frame_Shift_Del_p.T432fs					p.T432fs	NM_212482	NP_997647				FINC_HUMAN	FN1	HGNC	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Q9H382_HUMAN,Q7L553_HUMAN,Q53S27_HUMAN,A6YID6_HUMAN		9	1561	-		Renal(323;0.127)	UPI00001AEBF3	432			Fibronectin type-II 2.|Collagen-binding.		deletion	FN1,frameshift_variant,p.Thr432MetfsTer12,ENST00000354785,;FN1,frameshift_variant,p.Thr432MetfsTer12,ENST00000323926,NM_212482.1;FN1,frameshift_variant,p.Thr432MetfsTer12,ENST00000359671,;FN1,frameshift_variant,p.Thr432MetfsTer12,ENST00000336916,NM_212478.1,NM_002026.2;FN1,frameshift_variant,p.Thr432MetfsTer12,ENST00000421182,;FN1,frameshift_variant,p.Thr432MetfsTer12,ENST00000357009,;FN1,frameshift_variant,p.Thr432MetfsTer12,ENST00000346544,;FN1,frameshift_variant,p.Thr432MetfsTer12,ENST00000446046,;FN1,frameshift_variant,p.Thr432MetfsTer12,ENST00000345488,;FN1,frameshift_variant,p.Thr432MetfsTer12,ENST00000357867,NM_212474.1;FN1,frameshift_variant,p.Thr432MetfsTer12,ENST00000356005,NM_212476.1;FN1,frameshift_variant,p.Thr432MetfsTer12,ENST00000443816,;FN1,frameshift_variant,p.Thr432MetfsTer12,ENST00000432072,;FN1,frameshift_variant,p.Thr432MetfsTer12,ENST00000426059,NM_054034.2;FN1,upstream_gene_variant,,ENST00000496542,;	uc002vfa.2	c.1295delC	1561/8524	5	5			c.1295delC						2	DEL	c.(1294-1296)ACTfs	21	21			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13	Broad	fibronectin 1 isoform 1 preproprotein		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	216288171		0.488	ENSG00000115414	5859	g.chr2:216288171delG	acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			1374			1374														0.21	1	1	0	1	0	0	0	0	0	--	--		0	-			FN1_uc002vfb.2_Frame_Shift_Del_p.T432fs|FN1_uc002vfc.2_Frame_Shift_Del_p.T432fs|FN1_uc002vfd.2_Frame_Shift_Del_p.T432fs|FN1_uc002vfe.2_Frame_Shift_Del_p.T432fs|FN1_uc002vff.2_Frame_Shift_Del_p.T432fs|FN1_uc002vfg.2_Frame_Shift_Del_p.T432fs|FN1_uc002vfh.2_Frame_Shift_Del_p.T432fs|FN1_uc002vfi.2_Frame_Shift_Del_p.T432fs|FN1_uc002vfj.2_Frame_Shift_Del_p.T432fs|FN1_uc002vfl.2_Frame_Shift_Del_p.T432fs	129	GBM-12-5295-TP	p.T432fs	G	AGTGCAATCAGTGTAATTGTG	NM_212482	NP_997647	216288171	P02751	FINC_HUMAN	0		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	9	1561	-	-	-		Renal(323;0.127)	Frame_Shift_Del	432			Fibronectin type-II 2.|Collagen-binding.			
FN1	0	broad.mit.edu	GRCh37	2	216300455	216300455	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01	TCGA-32-4213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359671.1:c.71C>T	p.Thr24Met	p.T24M	ENST00000359671		24	aCg/aTg	0			1			A	T/M	uc002vfa.2	protein_coding					71/7161									central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13	c.(70-72)ACG>ATG			hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF187,Cleavage_site_(Signalp):SignalP-noTM	fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)			ENSP00000352696		Jan-45									COSM3407559,COSM3407558,COSM3407560	Jan-45	.		ENST00000359671	Transcript	1		acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	ENSG00000115414	g.chr2:216300455G>A	3778			MODERATE		0.295	neutral	getma.org/?cm=msa&ty=f&p=FINC_HUMAN&rb=1&re=51&var=T24M	NA	getma.org/?cm=var&var=hg19,2,216300455,G,A&fts=all	T24M	--	--	1																																		FN1_uc002vfb.2_Missense_Mutation_p.T24M|FN1_uc002vfc.2_Missense_Mutation_p.T24M|FN1_uc002vfd.2_Missense_Mutation_p.T24M|FN1_uc002vfe.2_Missense_Mutation_p.T24M|FN1_uc002vff.2_Missense_Mutation_p.T24M|FN1_uc002vfg.2_Missense_Mutation_p.T24M|FN1_uc002vfh.2_Missense_Mutation_p.T24M|FN1_uc002vfi.2_Missense_Mutation_p.T24M|FN1_uc002vfj.2_Missense_Mutation_p.T24M|FN1_uc002vfl.2_Missense_Mutation_p.T24M	1,1,1			benign(0.12)	p.T24M	NM_212482	NP_997647		tolerated(0.34)	1,1,1	FINC_HUMAN	FN1	HGNC	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Q9H382_HUMAN,Q7L553_HUMAN,Q53S27_HUMAN,A6YID6_HUMAN		1	337	-		Renal(323;0.127)	UPI00001AEBF3	24					SNV	FN1,missense_variant,p.Thr24Met,ENST00000354785,;FN1,missense_variant,p.Thr24Met,ENST00000323926,NM_212482.1;FN1,missense_variant,p.Thr24Met,ENST00000359671,;FN1,missense_variant,p.Thr24Met,ENST00000336916,NM_212478.1,NM_002026.2;FN1,missense_variant,p.Thr24Met,ENST00000421182,;FN1,missense_variant,p.Thr24Met,ENST00000357009,;FN1,missense_variant,p.Thr24Met,ENST00000346544,;FN1,missense_variant,p.Thr24Met,ENST00000446046,;FN1,missense_variant,p.Thr24Met,ENST00000345488,;FN1,missense_variant,p.Thr24Met,ENST00000357867,NM_212474.1;FN1,missense_variant,p.Thr24Met,ENST00000356005,NM_212476.1;FN1,missense_variant,p.Thr24Met,ENST00000443816,;FN1,missense_variant,p.Thr24Met,ENST00000432072,;FN1,missense_variant,p.Thr24Met,ENST00000426059,NM_054034.2;AC012462.1,upstream_gene_variant,,ENST00000412951,;	uc002vfa.2	c.71C>T	337/8524	2	2			c.71C>T						2	SNP	c.(70-72)ACG>ATG	43	43			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13	Broad	fibronectin 1 isoform 1 preproprotein		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	216300455		0.667	ENSG00000115414	5859	g.chr2:216300455G>A	acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			1374			1374	4.241045	KEEP	2	0	-1	9	15	2	0	-1	6.436857	9	15	0.125	1	0	0	0	0	1	0	0	0	--	--		0	A			FN1_uc002vfb.2_Missense_Mutation_p.T24M|FN1_uc002vfc.2_Missense_Mutation_p.T24M|FN1_uc002vfd.2_Missense_Mutation_p.T24M|FN1_uc002vfe.2_Missense_Mutation_p.T24M|FN1_uc002vff.2_Missense_Mutation_p.T24M|FN1_uc002vfg.2_Missense_Mutation_p.T24M|FN1_uc002vfh.2_Missense_Mutation_p.T24M|FN1_uc002vfi.2_Missense_Mutation_p.T24M|FN1_uc002vfj.2_Missense_Mutation_p.T24M|FN1_uc002vfl.2_Missense_Mutation_p.T24M	247	GBM-32-4213-TP	p.T24M	G	CGAGGCTCCCGTGGAGGGCAC	NM_212482	NP_997647	216300455	P02751	FINC_HUMAN	0		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	1	337	-	A	A		Renal(323;0.127)	Missense_Mutation	24						
FNDC1	84624	broad.mit.edu	GRCh37	6	159653416	159653416	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0173-01	TCGA-06-0173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297267.9:c.1872G>A	p.Ala624=	p.A624=	ENST00000297267	NM_032532.2	624	gcG/gcA	0	A:0.0005	A:0.0015	1	A:0		A	A	uc010kjv.2	protein_coding	YES	CCDS47512.1			1872/5685									large_intestine(4)|ovary(3)|central_nervous_system(1)	8	c.(1870-1872)GCG>GCA			Low_complexity_(Seg):seg,hmmpanther:PTHR23197:SF8,hmmpanther:PTHR23197	fibronectin type III domain containing 1		A:0	A:0	ENSP00000297267	A:0	23-Nov	4.14E-05	0.000532							rs200852800,COSM2150363	23-Nov	common_variant		ENST00000297267	Transcript		A:0.0004		extracellular region		ENSG00000164694	g.chr6:159653416G>A	21184			LOW								--	--	1																																		FNDC1_uc010kjw.1_Silent_p.A509A	0,1	1			p.A624A	NM_032532	NP_115921	A:0		0,1	FNDC1_HUMAN	FNDC1	HGNC	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)			11	2072	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	UPI0000579B80	624					SNV	FNDC1,synonymous_variant,p.=,ENST00000297267,NM_032532.2;FNDC1,synonymous_variant,p.=,ENST00000340366,;FNDC1,synonymous_variant,p.=,ENST00000329629,;	uc010kjv.2	c.1872G>A	2072/6552	2	2			c.1872G>A						6	SNP	c.(1870-1872)GCG>GCA	41	41			large_intestine(4)|ovary(3)|central_nervous_system(1)	8	Broad	fibronectin type III domain containing 1			159653416		0.667	ENSG00000164694	5865	g.chr6:159653416G>A		extracellular region								58.772618	KEEP	14	8	-1	15	16	14	8	-1	58.85394	15	16	0.454545	1	0	0	0	0	0	0	1	0	--	--		0	A			FNDC1_uc010kjw.1_Silent_p.A509A	36	GBM-06-0173-TP	p.A624A	G	CCCACCACGCGTCCACCCAGG	NM_032532	NP_115921	159653416	Q4ZHG4	FNDC1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	2072	+	A	A		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	Silent	624						
FNDC1	0	broad.mit.edu	GRCh37	6	159653439	159653439	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01	TCGA-12-0821-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297267.9:c.1895G>A	p.Arg632His	p.R632H	ENST00000297267	NM_032532.2	632	cGt/cAt	0			1			A	R/H	uc010kjv.2	protein_coding	YES	CCDS47512.1			1895/5685									large_intestine(4)|ovary(3)|central_nervous_system(1)	8	c.(1894-1896)CGT>CAT			hmmpanther:PTHR23197:SF8,hmmpanther:PTHR23197	fibronectin type III domain containing 1				ENSP00000297267		23-Nov									COSM3410745	23-Nov	.		ENST00000297267	Transcript				extracellular region		ENSG00000164694	g.chr6:159653439G>A	21184			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=FNDC1_HUMAN&rb=474&re=1321&var=R632H	NA	getma.org/?cm=var&var=hg19,6,159653439,G,A&fts=all	R632H	--	--	1																																		FNDC1_uc010kjw.1_Missense_Mutation_p.R517H	1	1		unknown(0)	p.R632H	NM_032532	NP_115921		tolerated_low_confidence(0.11)	1	FNDC1_HUMAN	FNDC1	HGNC	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)			11	2095	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	UPI0000579B80	632					SNV	FNDC1,missense_variant,p.Arg632His,ENST00000297267,NM_032532.2;FNDC1,missense_variant,p.Arg569His,ENST00000340366,;FNDC1,missense_variant,p.Arg528His,ENST00000329629,;	uc010kjv.2	c.1895G>A	2095/6552	1	1			c.1895G>A						6	SNP	c.(1894-1896)CGT>CAT	59	59			large_intestine(4)|ovary(3)|central_nervous_system(1)	8	Broad	fibronectin type III domain containing 1			159653439		0.682	ENSG00000164694	5865	g.chr6:159653439G>A		extracellular region								226.508644	KEEP	46	45	-1	47	32	46	45	-1	226.565842	47	32	0.521739	1	0	0	0	0	1	0	0	0	--	--		0	A			FNDC1_uc010kjw.1_Missense_Mutation_p.R517H	123	GBM-12-0821-TP	p.R632H	G	ACCTCTCATCGTCCTTCCCTG	NM_032532	NP_115921	159653439	Q4ZHG4	FNDC1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	2095	+	A	A		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	Missense_Mutation	632						
FNDC1	0	broad.mit.edu	GRCh37	6	159655381	159655381	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5215-01	TCGA-28-5215-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297267.9:c.3837G>A	p.Pro1279=	p.P1279=	ENST00000297267	NM_032532.2	1279	ccG/ccA	0			1			A	P	uc010kjv.2	protein_coding	YES	CCDS47512.1			3837/5685									large_intestine(4)|ovary(3)|central_nervous_system(1)	8	c.(3835-3837)CCG>CCA			hmmpanther:PTHR23197:SF8,hmmpanther:PTHR23197	fibronectin type III domain containing 1				ENSP00000297267		23-Nov	1.66E-05							6.64E-05	rs757619264,COSM3410746	23-Nov	.		ENST00000297267	Transcript				extracellular region		ENSG00000164694	g.chr6:159655381G>A	21184			LOW								--	--	1																																		FNDC1_uc010kjw.1_Silent_p.P1164P	0,1	1			p.P1279P	NM_032532	NP_115921			0,1	FNDC1_HUMAN	FNDC1	HGNC	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)			11	4037	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	UPI0000579B80	1279					SNV	FNDC1,synonymous_variant,p.=,ENST00000297267,NM_032532.2;FNDC1,synonymous_variant,p.=,ENST00000340366,;FNDC1,synonymous_variant,p.=,ENST00000329629,;	uc010kjv.2	c.3837G>A	4037/6552	2	2			c.3837G>A						6	SNP	c.(3835-3837)CCG>CCA	43	43			large_intestine(4)|ovary(3)|central_nervous_system(1)	8	Broad	fibronectin type III domain containing 1			159655381		0.701	ENSG00000164694	5865	g.chr6:159655381G>A		extracellular region								25.144872	KEEP	7	4	-1	4	9	7	4	-1	25.155334	4	9	0.47619	1	0	0	0	0	0	0	1	0	--	--		0	A			FNDC1_uc010kjw.1_Silent_p.P1164P	222	GBM-28-5215-TP	p.P1279P	G	ACCCCTGGCCGCAGTACACCA	NM_032532	NP_115921	159655381	Q4ZHG4	FNDC1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	4037	+	A	A		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	Silent	1279						
FNDC1	0	broad.mit.edu	GRCh37	6	159672498	159672498	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01	TCGA-32-2494-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297267.9:c.4999G>A	p.Val1667Met	p.V1667M	ENST00000297267	NM_032532.2	1667	Gtg/Atg	0			1			A	V/M	uc010kjv.2	protein_coding	YES	CCDS47512.1			4999/5685									large_intestine(4)|ovary(3)|central_nervous_system(1)	8	c.(4999-5001)GTG>ATG			PROSITE_profiles:PS50853,hmmpanther:PTHR23197:SF8,hmmpanther:PTHR23197,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	fibronectin type III domain containing 1				ENSP00000297267		17/23									COSM3410747	17/23	.		ENST00000297267	Transcript				extracellular region		ENSG00000164694	g.chr6:159672498G>A	21184			MODERATE		1.26	low	getma.org/?cm=msa&ty=f&p=FNDC1_HUMAN&rb=1657&re=1742&var=V1667M	getma.org/pdb.php?prot=FNDC1_HUMAN&from=1657&to=1742&var=V1667M	getma.org/?cm=var&var=hg19,6,159672498,G,A&fts=all	V1667M	--	--	1																																			1	1		possibly_damaging(0.622)	p.V1667M	NM_032532	NP_115921		tolerated(1)	1	FNDC1_HUMAN	FNDC1	HGNC	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)			17	5199	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	UPI0000579B80	1667			Fibronectin type-III 5.		SNV	FNDC1,missense_variant,p.Val1667Met,ENST00000297267,NM_032532.2;FNDC1,missense_variant,p.Val1604Met,ENST00000340366,;FNDC1,missense_variant,p.Val1563Met,ENST00000329629,;	uc010kjv.2	c.4999G>A	5199/6552	2	2			c.4999G>A						6	SNP	c.(4999-5001)GTG>ATG	33	33			large_intestine(4)|ovary(3)|central_nervous_system(1)	8	Broad	fibronectin type III domain containing 1			159672498		0.537	ENSG00000164694	5865	g.chr6:159672498G>A		extracellular region								43.678008	KEEP	7	11	-1	18	25	7	11	-1	45.536452	18	25	0.301887	1	0	0	0	0	1	0	0	0	--	--		0	A				236	GBM-32-2494-TP	p.V1667M	G	CGTGGTGGCCGTGGAAGGTTG	NM_032532	NP_115921	159672498	Q4ZHG4	FNDC1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	17	5199	+	A	A		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	Missense_Mutation	1667			Fibronectin type-III 5.			
FNDC3B	64778	broad.mit.edu	GRCh37	3	172096143	172096143	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0216-01	TCGA-06-0216-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336824.4:c.3092A>G	p.Gln1031Arg	p.Q1031R	ENST00000336824	NM_001135095.1	1031	cAg/cGg	0			1			G	Q/R	uc003fhy.2	protein_coding	YES	CCDS3217.1			3092/3615									ovary(2)|breast(1)	3	c.(3091-3093)CAG>CGG			PROSITE_profiles:PS50853,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF54,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	fibronectin type III domain containing 3B				ENSP00000338523		24/26									COSM2150911	24/26	.		ENST00000336824	Transcript				endoplasmic reticulum|integral to membrane		ENSG00000075420	g.chr3:172096143A>G	24670			MODERATE		1.455	low	getma.org/?cm=msa&ty=f&p=FND3B_HUMAN&rb=959&re=1042&var=Q1031R	getma.org/pdb.php?prot=FND3B_HUMAN&from=959&to=1042&var=Q1031R	getma.org/?cm=var&var=hg19,3,172096143,A,G&fts=all	Q1031R	--	--	1																																		FNDC3B_uc003fhz.3_Missense_Mutation_p.Q1031R	1	1		benign(0.042)	p.Q1031R	NM_022763	NP_073600		deleterious(0.01)	1	FND3B_HUMAN	FNDC3B	HGNC	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)			24	3264	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		UPI00001AE8B2	1031			Fibronectin type-III 8.		SNV	FNDC3B,missense_variant,p.Gln1031Arg,ENST00000336824,NM_001135095.1;FNDC3B,missense_variant,p.Gln1031Arg,ENST00000415807,NM_022763.3;FNDC3B,missense_variant,p.Gln1031Arg,ENST00000416957,;	uc003fhy.2	c.3092A>G	3191/7904	3	3			c.3092A>G						3	SNP	c.(3091-3093)CAG>CGG	6	6			ovary(2)|breast(1)	3	Broad	fibronectin type III domain containing 3B			172096143		0.493	ENSG00000075420	5867	g.chr3:172096143A>G		endoplasmic reticulum|integral to membrane								74.917914	KEEP	14	16	-1	43	27	14	16	-1	77.917625	43	27	0.302326	1	0	0	0	0	1	0	0	0	--	--		0	G			FNDC3B_uc003fhz.3_Missense_Mutation_p.Q1031R	51	GBM-06-0216-TP	p.Q1031R	A	TTCAGAATCCAGGCAGCAAGC	NM_022763	NP_073600	172096143	Q53EP0	FND3B_HUMAN	0	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	24	3264	+	G	G	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		Missense_Mutation	1031			Fibronectin type-III 8.			
FNDC3B	64778	broad.mit.edu	GRCh37	3	172096080	172096080	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01	TCGA-06-5414-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336824.4:c.3029G>A	p.Gly1010Glu	p.G1010E	ENST00000336824	NM_001135095.1	1010	gGa/gAa	0			1			A	G/E	uc003fhy.2	protein_coding	YES	CCDS3217.1			3029/3615									ovary(2)|breast(1)	3	c.(3028-3030)GGA>GAA			PROSITE_profiles:PS50853,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF54,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	fibronectin type III domain containing 3B				ENSP00000338523		24/26									COSM3748219	24/26	.		ENST00000336824	Transcript				endoplasmic reticulum|integral to membrane		ENSG00000075420	g.chr3:172096080G>A	24670			MODERATE		3.28	medium	getma.org/?cm=msa&ty=f&p=FND3B_HUMAN&rb=959&re=1042&var=G1010E	getma.org/pdb.php?prot=FND3B_HUMAN&from=959&to=1042&var=G1010E	getma.org/?cm=var&var=hg19,3,172096080,G,A&fts=all	G1010E	--	--	1																																		FNDC3B_uc003fhz.3_Missense_Mutation_p.G1010E	1	1		probably_damaging(1)	p.G1010E	NM_022763	NP_073600		deleterious(0)	1	FND3B_HUMAN	FNDC3B	HGNC	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)			24	3201	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		UPI00001AE8B2	1010			Fibronectin type-III 8.		SNV	FNDC3B,missense_variant,p.Gly1010Glu,ENST00000336824,NM_001135095.1;FNDC3B,missense_variant,p.Gly1010Glu,ENST00000415807,NM_022763.3;FNDC3B,missense_variant,p.Gly1010Glu,ENST00000416957,;	uc003fhy.2	c.3029G>A	3128/7904	2	2			c.3029G>A						3	SNP	c.(3028-3030)GGA>GAA	35	35			ovary(2)|breast(1)	3	Broad	fibronectin type III domain containing 3B			172096080		0.448	ENSG00000075420	5867	g.chr3:172096080G>A		endoplasmic reticulum|integral to membrane								96.787719	KEEP	20	19	-1	36	25	20	19	-1	97.981101	36	25	0.375	1	0	0	0	0	1	0	0	0	--	--		0	A			FNDC3B_uc003fhz.3_Missense_Mutation_p.G1010E	97	GBM-06-5414-TP	p.G1010E	G	ATCTACAGAGGACCCAGCCAC	NM_022763	NP_073600	172096080	Q53EP0	FND3B_HUMAN	0	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	24	3201	+	A	A	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		Missense_Mutation	1010			Fibronectin type-III 8.			
FNDC3B	0	broad.mit.edu	GRCh37	3	172065012	172065012	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-27-2527-01	TCGA-27-2527-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336824.4:c.2375G>C	p.Ser792Thr	p.S792T	ENST00000336824	NM_001135095.1	792	aGt/aCt	0			1			C	S/T	uc003fhy.2	protein_coding	YES	CCDS3217.1			2375/3615									ovary(2)|breast(1)	3	c.(2374-2376)AGT>ACT			PROSITE_profiles:PS50853,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF54,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	fibronectin type III domain containing 3B				ENSP00000338523		21/26									COSM3408432	21/26	.		ENST00000336824	Transcript				endoplasmic reticulum|integral to membrane		ENSG00000075420	g.chr3:172065012G>C	24670			MODERATE		1.715	low	getma.org/?cm=msa&ty=f&p=FND3B_HUMAN&rb=776&re=849&var=S792T	getma.org/pdb.php?prot=FND3B_HUMAN&from=776&to=849&var=S792T	getma.org/?cm=var&var=hg19,3,172065012,G,C&fts=all	S792T	--	--	1																																		FNDC3B_uc003fhz.3_Missense_Mutation_p.S792T	1	1		benign(0.369)	p.S792T	NM_022763	NP_073600		tolerated(0.17)	1	FND3B_HUMAN	FNDC3B	HGNC	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)			21	2547	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		UPI00001AE8B2	792			Fibronectin type-III 6.		SNV	FNDC3B,missense_variant,p.Ser792Thr,ENST00000336824,NM_001135095.1;FNDC3B,missense_variant,p.Ser792Thr,ENST00000415807,NM_022763.3;FNDC3B,missense_variant,p.Ser792Thr,ENST00000416957,;FNDC3B,non_coding_transcript_exon_variant,,ENST00000490832,;	uc003fhy.2	c.2375G>C	2474/7904	4	4			c.2375G>C						3	SNP	c.(2374-2376)AGT>ACT	42	42			ovary(2)|breast(1)	3	Broad	fibronectin type III domain containing 3B			172065012		0.398	ENSG00000075420	5867	g.chr3:172065012G>C		endoplasmic reticulum|integral to membrane								-49.893283	KEEP	4	2	-1	141	142	4	2	-1	14.810579	141	142	0.023437	1	0	0	0	0	1	0	0	0	--	--		0	C			FNDC3B_uc003fhz.3_Missense_Mutation_p.S792T	204	GBM-27-2527-TP	p.S792T	G	AGTCCTGATAGTTCTGGTGCT	NM_022763	NP_073600	172065012	Q53EP0	FND3B_HUMAN	0	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	21	2547	+	C	C	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		Missense_Mutation	792			Fibronectin type-III 6.			
FNDC4	64838	broad.mit.edu	GRCh37	2	27716857	27716857	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01	TCGA-02-2485-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264703.3:c.394C>T	p.Arg132Trp	p.R132W	ENST00000264703	NM_022823.2	132	Cgg/Tgg	0			1			A	R/W	uc002rkx.2	protein_coding	YES	CCDS1756.1			394/705										0	c.(394-396)CGG>TGG			Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR14470,hmmpanther:PTHR14470:SF2,Superfamily_domains:SSF49265	fibronectin type III domain containing 4				ENSP00000264703		7-Apr	1.65E-05					3.00E-05			rs766467845,COSM3407794	7-Apr	.		ENST00000264703	Transcript				integral to membrane		ENSG00000115226	g.chr2:27716857G>A	20239			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=FNDC4_HUMAN&rb=47&re=136&var=R132W	getma.org/pdb.php?prot=FNDC4_HUMAN&from=47&to=136&var=R132W	getma.org/?cm=var&var=hg19,2,27716857,G,A&fts=all	R132W	--	--	1																																		GCKR_uc002rky.2_5'Flank|GCKR_uc010ezd.2_5'Flank|GCKR_uc010ylu.1_5'Flank	0,1	1		probably_damaging(0.973)	p.R132W	NM_022823	NP_073734		deleterious(0.01)	0,1	FNDC4_HUMAN	FNDC4	HGNC	Q9H6D8	FNDC4_HUMAN					4	800	-	Acute lymphoblastic leukemia(172;0.155)		UPI000006F5E7	132			Extracellular (Potential).|Fibronectin type-III.		SNV	FNDC4,missense_variant,p.Arg132Trp,ENST00000264703,NM_022823.2;IFT172,upstream_gene_variant,,ENST00000260570,NM_015662.1;IFT172,upstream_gene_variant,,ENST00000359466,;GCKR,upstream_gene_variant,,ENST00000264717,NM_001486.3;GCKR,upstream_gene_variant,,ENST00000424318,;IFT172,upstream_gene_variant,,ENST00000416524,;GCKR,upstream_gene_variant,,ENST00000453813,;FNDC4,non_coding_transcript_exon_variant,,ENST00000491414,;FNDC4,non_coding_transcript_exon_variant,,ENST00000476197,;IFT172,upstream_gene_variant,,ENST00000507184,;IFT172,upstream_gene_variant,,ENST00000476264,;IFT172,upstream_gene_variant,,ENST00000511842,;GCKR,upstream_gene_variant,,ENST00000472290,;IFT172,upstream_gene_variant,,ENST00000475476,;GCKR,upstream_gene_variant,,ENST00000417872,;	uc002rkx.2	c.394C>T	786/1657	2	2			c.394C>T						2	SNP	c.(394-396)CGG>TGG	42	42				0	Broad	fibronectin type III domain containing 4			27716857		0.607	ENSG00000115226	5868	g.chr2:27716857G>A		integral to membrane								-14.390798	KEEP	5	2	-1	62	87	5	2	-1	14.846662	62	87	0.051095	1	0	0	0	0	1	0	0	0	--	--		0	A			GCKR_uc002rky.2_5'Flank|GCKR_uc010ezd.2_5'Flank|GCKR_uc010ylu.1_5'Flank	7	GBM-02-2485-TP	p.R132W	G	AAGTGCACCCGGGGCCCTGGG	NM_022823	NP_073734	27716857	Q9H6D8	FNDC4_HUMAN	0			4	800	-	A	A	Acute lymphoblastic leukemia(172;0.155)		Missense_Mutation	132			Extracellular (Potential).|Fibronectin type-III.			
FNDC7	0	broad.mit.edu	GRCh37	1	109270578	109270578	+	synonymous_variant	Silent	SNP	G	G	A	rs151239518	by1000genomes	TCGA-19-5955-01	TCGA-19-5955-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370017.3:c.1260G>A	p.Ala420=	p.A420=	ENST00000370017	NM_001144937.1	420	gcG/gcA	0	A:0.0005	A:0.0008	1	A:0		A	A	uc001dvx.2	protein_coding	YES	CCDS44185.1			1260/2202									ovary(1)|skin(1)	2	c.(1258-1260)GCG>GCA			Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF177,PROSITE_profiles:PS50853	fibronectin type III domain containing 7		A:0.004	A:0	ENSP00000359034	A:0	13-Jul	0.000173	0.000481	8.64E-05	0.000924		0.000105			rs151239518,COSM3399515,COSM3399516,COSM3399514	13-Jul	common_variant		ENST00000370017	Transcript		A:0.0010		extracellular region		ENSG00000143107	g.chr1:109270578G>A	26668			LOW								--	--	1																																		FNDC7_uc010ova.1_Silent_p.A187A	0,1,1,1	1			p.A420A	NM_001144937	NP_001138409	A:0		0,1,1,1	FNDC7_HUMAN	FNDC7	HGNC	Q5VTL7	FNDC7_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)			7	1260	+		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)	UPI000187497A	421			Fibronectin type-III 5.		SNV	FNDC7,synonymous_variant,p.=,ENST00000370017,NM_001144937.1;FNDC7,synonymous_variant,p.=,ENST00000271311,;FNDC7,synonymous_variant,p.=,ENST00000445274,;	uc001dvx.2	c.1260G>A	1537/3332	2	2			c.1260G>A						1	SNP	c.(1258-1260)GCG>GCA	17	17			ovary(1)|skin(1)	2	Broad	fibronectin type III domain containing 7			109270578		0.483	ENSG00000143107	5870	g.chr1:109270578G>A		extracellular region								44.849351	KEEP	10	16	-1	46	59	10	16	-1	56.596221	46	59	0.184	1	0	0	0	0	0	0	1	0	--	--		0	A			FNDC7_uc010ova.1_Silent_p.A187A	175	GBM-19-5955-TP	p.A420A	G	CTACTCCTGCGTGCACCCTTT	NM_001144937	NP_001138409	109270578	Q5VTL7	FNDC7_HUMAN	0		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)	7	1260	+	A	A		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)	Silent	421			Fibronectin type-III 5.			
FNIP1	96459	broad.mit.edu	GRCh37	5	131042146	131042146	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01	TCGA-06-0124-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000510461.1:c.872G>A	p.Arg291His	p.R291H	ENST00000510461	NM_133372.2	291	cGc/cAc	0			1			T	R/H	uc003kvs.1	protein_coding	YES	CCDS34227.1			872/3501									pancreas(1)|skin(1)	2	c.(871-873)CGC>CAC			hmmpanther:PTHR21634,hmmpanther:PTHR21634:SF12	folliculin interacting protein 1 isoform 1				ENSP00000421985		18-Sep									COSM1433002	18-Sep	.		ENST00000510461	Transcript			regulation of protein phosphorylation	cytoplasm	protein binding	ENSG00000217128	g.chr5:131042146C>T	29418			MODERATE		2.595	medium	getma.org/?cm=msa&ty=f&p=FNIP1_HUMAN&rb=1&re=567&var=R291H	NA	getma.org/?cm=var&var=hg19,5,131042146,C,T&fts=all	R291H	--	--	1																																		RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Missense_Mutation_p.R263H|FNIP1_uc010jdm.1_Missense_Mutation_p.R246H|FNIP1_uc003kvu.2_Missense_Mutation_p.R291H	1	1		probably_damaging(0.999)	p.R291H	NM_133372	NP_588613		deleterious(0.01)	1	FNIP1_HUMAN	FNIP1	HGNC	Q8TF40	FNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	B3KX44_HUMAN		9	1014	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	UPI00001AEE81	291					SNV	FNIP1,missense_variant,p.Arg263His,ENST00000307968,NM_001008738.2;FNIP1,missense_variant,p.Arg246His,ENST00000307954,;FNIP1,missense_variant,p.Arg291His,ENST00000510461,NM_133372.2;FNIP1,missense_variant,p.Arg291His,ENST00000511848,;CTC-432M15.3,intron_variant,,ENST00000514667,;	uc003kvs.1	c.872G>A	968/3845	2	2			c.872G>A						5	SNP	c.(871-873)CGC>CAC	18	18			pancreas(1)|skin(1)	2	Broad	folliculin interacting protein 1 isoform 1			131042146		0.438	ENSG00000217128	5872	g.chr5:131042146C>T	regulation of protein phosphorylation	cytoplasm	protein binding							118.377638	KEEP	28	22	-1	66	47	28	22	-1	122.600213	66	47	0.313869	1	0	0	0	0	1	0	0	0	--	--		0	T			RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Missense_Mutation_p.R263H|FNIP1_uc010jdm.1_Missense_Mutation_p.R246H|FNIP1_uc003kvu.2_Missense_Mutation_p.R291H	11	GBM-06-0124-TP	p.R291H	C	TGTTTGGCTGCGTCGCCAACG	NM_133372	NP_588613	131042146	Q8TF40	FNIP1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	9	1014	-	T	T		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	Missense_Mutation	291						
FNIP1	0	broad.mit.edu	GRCh37	5	131039794	131039794	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-41-2571-01	TCGA-41-2571-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000510461.1:c.1080A>G	p.Glu360=	p.E360=	ENST00000510461	NM_133372.2	360	gaA/gaG	0			1			C	E	uc003kvs.1	protein_coding	YES	CCDS34227.1			1080/3501									pancreas(1)|skin(1)	2	c.(1078-1080)GAA>GAG			hmmpanther:PTHR21634,hmmpanther:PTHR21634:SF12,Pfam_domain:PF14637,Prints_domain:PR02073	folliculin interacting protein 1 isoform 1				ENSP00000421985		18-Oct									COSM3409717	18-Oct	.		ENST00000510461	Transcript			regulation of protein phosphorylation	cytoplasm	protein binding	ENSG00000217128	g.chr5:131039794T>C	29418			LOW								--	--	1																																		RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Silent_p.E332E|FNIP1_uc010jdm.1_Silent_p.E315E|FNIP1_uc003kvu.2_Silent_p.E360E	1	1			p.E360E	NM_133372	NP_588613			1	FNIP1_HUMAN	FNIP1	HGNC	Q8TF40	FNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	B3KX44_HUMAN		10	1222	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	UPI00001AEE81	360					SNV	FNIP1,synonymous_variant,p.=,ENST00000307968,NM_001008738.2;FNIP1,synonymous_variant,p.=,ENST00000307954,;FNIP1,synonymous_variant,p.=,ENST00000510461,NM_133372.2;FNIP1,synonymous_variant,p.=,ENST00000511848,;CTC-432M15.3,intron_variant,,ENST00000514667,;	uc003kvs.1	c.1080A>G	1176/3845	3	3			c.1080A>G						5	SNP	c.(1078-1080)GAA>GAG	51	51			pancreas(1)|skin(1)	2	Broad	folliculin interacting protein 1 isoform 1			131039794		0.269	ENSG00000217128	5872	g.chr5:131039794T>C	regulation of protein phosphorylation	cytoplasm	protein binding							-12.849672	KEEP	1	3	-1	51	36	1	3	-1	6.531012	51	36	0.036145	1	0	0	0	0	0	0	1	0	--	--		0	C			RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Silent_p.E332E|FNIP1_uc010jdm.1_Silent_p.E315E|FNIP1_uc003kvu.2_Silent_p.E360E	250	GBM-41-2571-TP	p.E360E	T	TCATGTGGCTTTCAAAGAGAG	NM_133372	NP_588613	131039794	Q8TF40	FNIP1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	10	1222	-	C	C		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	Silent	360						
FNTA	2339		GRCh37	8	42939877	42939877	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000302279.3:c.870C>T	p.Ser290=	p.S290=	ENST00000302279	NM_002027.2	290	tcC/tcT	0																																																																																																																																																																																																																																												
FNTB	2342		GRCh37	14	65520032	65520032	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000246166.2:c.1032G>A	p.Gln344=	p.Q344=	ENST00000246166	NM_002028.3	344	caG/caA	0																																																																																																																																																																																																																																												
FOCAD	54914	broad.mit.edu	GRCh37	9	20821058	20821058	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-2559-01	TCGA-06-2559-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380249.1:c.1781T>C	p.Ile594Thr	p.I594T	ENST00000380249	NM_017794.3	594	aTa/aCa	0			1			C	I/T	uc003zog.1	protein_coding		CCDS34993.1			1781/5406									ovary(8)|breast(1)|kidney(1)	10	c.(1780-1782)ATA>ACA			hmmpanther:PTHR16212:SF4,hmmpanther:PTHR16212,Pfam_domain:PF12530	hypothetical protein LOC54914				ENSP00000344307		13/43	1.65E-05					3.00E-05			rs772904307,COSM3413554	13/43	.		ENST00000338382	Transcript				integral to membrane	binding	ENSG00000188352	g.chr9:20821058T>C	23377			MODERATE		2.25	medium	getma.org/?cm=msa&ty=f&p=K1797_HUMAN&rb=489&re=715&var=I594T	NA	getma.org/?cm=var&var=hg19,9,20821058,T,C&fts=all	I594T	--	--	1																																		KIAA1797_uc003zoh.1_Missense_Mutation_p.I30T	0,1			possibly_damaging(0.745)	p.I594T	NM_017794	NP_060264		deleterious(0)	0,1	FOCAD_HUMAN	FOCAD	HGNC	Q5VW36	K1797_HUMAN		GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)	S4R450_HUMAN,S4R400_HUMAN,S4R3S9_HUMAN		16	2144	+			UPI00002111D4	594					SNV	FOCAD,missense_variant,p.Ile594Thr,ENST00000380249,NM_017794.3;FOCAD,missense_variant,p.Ile594Thr,ENST00000338382,;FOCAD,missense_variant,p.Ile30Thr,ENST00000605086,;FOCAD,non_coding_transcript_exon_variant,,ENST00000603492,;FOCAD,upstream_gene_variant,,ENST00000603844,;FOCAD,missense_variant,p.Ile30Thr,ENST00000603648,;	uc003zog.1	c.1781T>C	1781/5725	3	3			c.1781T>C						9	SNP	c.(1780-1782)ATA>ACA	61	61			ovary(8)|breast(1)|kidney(1)	10	Broad	hypothetical protein LOC54914			20821058		0.363	ENSG00000188352	8119	g.chr9:20821058T>C		integral to membrane	binding							-44.196639	KEEP	1	7	-1	125	144	1	7	-1	19.081771	125	144	0.030534	1	0	0	0	0	1	0	0	0	--	--		0	C			KIAA1797_uc003zoh.1_Missense_Mutation_p.I30T	83	GBM-06-2559-TP	p.I594T	T	ATCAGAGATATATGTAAGCAG	NM_017794	NP_060264	20821058	Q5VW36	K1797_HUMAN	0		GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)	16	2144	+	C	C			Missense_Mutation	594						
FOLH1	2346	broad.mit.edu	GRCh37	11	49175930	49175930	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256999.2:c.1738C>T	p.Arg580Ter	p.R580*	ENST00000256999	NM_004476.1	580	Cga/Tga	0			1			A	R/*	uc001ngy.2	protein_coding	YES	CCDS7946.1			1738/2253									large_intestine(1)|ovary(1)|skin(1)	3	c.(1738-1740)CGA>TGA			hmmpanther:PTHR10404:SF36,hmmpanther:PTHR10404,Gene3D:3.40.630.10,Superfamily_domains:SSF53187	folate hydrolase 1 isoform 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)			ENSP00000256999		16/19									COSM2149759	16/19	.		ENST00000256999	Transcript			proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	ENSG00000086205	g.chr11:49175930G>A	3788			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,11,49175930,G,A&fts=all	R580*	--	--	1																																		FOLH1_uc001ngx.2_Nonsense_Mutation_p.R12*|FOLH1_uc001ngz.2_Nonsense_Mutation_p.R580*|FOLH1_uc009yly.2_Nonsense_Mutation_p.R565*|FOLH1_uc009ylz.2_Nonsense_Mutation_p.R565*|FOLH1_uc009yma.2_Nonsense_Mutation_p.R272*	1	1			p.R580*	NM_004476	NP_004467			1	FOLH1_HUMAN	FOLH1	HGNC	Q04609	FOLH1_HUMAN			Q7Z5D2_HUMAN,Q2VPJ0_HUMAN,E9PMK6_HUMAN,E9PKM3_HUMAN		16	1999	-			UPI0000000A01	580			NAALADase.|Extracellular (Probable).		SNV	FOLH1,stop_gained,p.Arg565Ter,ENST00000340334,NM_001193472.1,NM_001193471.1;FOLH1,stop_gained,p.Arg580Ter,ENST00000256999,NM_004476.1;FOLH1,stop_gained,p.Arg580Ter,ENST00000356696,NM_001014986.1;FOLH1,stop_gained,p.Arg565Ter,ENST00000533034,;FOLH1,stop_gained,p.Arg272Ter,ENST00000343844,NM_001193473.1;FOLH1,3_prime_UTR_variant,,ENST00000525826,;FOLH1,non_coding_transcript_exon_variant,,ENST00000458311,;FOLH1,non_coding_transcript_exon_variant,,ENST00000532018,;	uc001ngy.2	c.1738C>T	1999/2635	5	1			c.1738C>T						11	SNP	c.(1738-1740)CGA>TGA	55	55			large_intestine(1)|ovary(1)|skin(1)	3	Broad	folate hydrolase 1 isoform 1		Capromab(DB00089)|L-Glutamic Acid(DB00142)	49175930		0.413	ENSG00000086205	5876	g.chr11:49175930G>A	proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity							144.392448	KEEP	29	41	-1	64	88	29	41	-1	146.395325	64	88	0.368421	1	0	0	0	0	0	1	0	0	--	--		0	A			FOLH1_uc001ngx.2_Nonsense_Mutation_p.R12*|FOLH1_uc001ngz.2_Nonsense_Mutation_p.R580*|FOLH1_uc009yly.2_Nonsense_Mutation_p.R565*|FOLH1_uc009ylz.2_Nonsense_Mutation_p.R565*|FOLH1_uc009yma.2_Nonsense_Mutation_p.R272*	23	GBM-06-0145-TP	p.R580*	G	ATCCCTCCTCGAACCTGGGCC	NM_004476	NP_004467	49175930	Q04609	FOLH1_HUMAN	0			16	1999	-	A	A			Nonsense_Mutation	580			NAALADase.|Extracellular (Probable).			
FOLH1	0	broad.mit.edu	GRCh37	11	49186293	49186293	+	synonymous_variant	Silent	SNP	C	C	T	rs141224157	by1000genomes	TCGA-27-1830-01	TCGA-27-1830-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256999.2:c.1404G>A	p.Pro468=	p.P468=	ENST00000256999	NM_004476.1	468	ccG/ccA	0			1			T	P	uc001ngy.2	protein_coding	YES	CCDS7946.1			1404/2253									large_intestine(1)|ovary(1)|skin(1)	3	c.(1402-1404)CCG>CCA			hmmpanther:PTHR10404:SF36,hmmpanther:PTHR10404,Gene3D:3.40.630.10,Pfam_domain:PF04389,Superfamily_domains:SSF53187	folate hydrolase 1 isoform 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)			ENSP00000256999		13/19	0.000181			0.000126		0.000265		0.000337	rs370741711,COSM3747881	13/19	.		ENST00000256999	Transcript			proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	ENSG00000086205	g.chr11:49186293C>T	3788			LOW								--	--	1																																		FOLH1_uc001ngz.2_Silent_p.P468P|FOLH1_uc009yly.2_Silent_p.P453P|FOLH1_uc009ylz.2_Silent_p.P453P|FOLH1_uc009yma.2_Silent_p.P160P	0,1	1			p.P468P	NM_004476	NP_004467			0,1	FOLH1_HUMAN	FOLH1	HGNC	Q04609	FOLH1_HUMAN			Q7Z5D2_HUMAN,Q2VPJ0_HUMAN,E9PMK6_HUMAN,E9PKM3_HUMAN		13	1665	-			UPI0000000A01	468			NAALADase.|Extracellular (Probable).		SNV	FOLH1,synonymous_variant,p.=,ENST00000340334,NM_001193472.1,NM_001193471.1;FOLH1,synonymous_variant,p.=,ENST00000256999,NM_004476.1;FOLH1,synonymous_variant,p.=,ENST00000356696,NM_001014986.1;FOLH1,synonymous_variant,p.=,ENST00000533034,;FOLH1,synonymous_variant,p.=,ENST00000343844,NM_001193473.1;FOLH1,non_coding_transcript_exon_variant,,ENST00000525629,;FOLH1,3_prime_UTR_variant,,ENST00000525826,;FOLH1,non_coding_transcript_exon_variant,,ENST00000458311,;	uc001ngy.2	c.1404G>A	1665/2635	2	2			c.1404G>A						11	SNP	c.(1402-1404)CCG>CCA	22	22			large_intestine(1)|ovary(1)|skin(1)	3	Broad	folate hydrolase 1 isoform 1		Capromab(DB00089)|L-Glutamic Acid(DB00142)	49186293		0.284	ENSG00000086205	5876	g.chr11:49186293C>T	proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity							0.998847	KEEP	2	1	-1	24	13	2	1	-1	6.826707	24	13	0.088235	1	0	0	0	0	0	0	1	0	--	--		0	T			FOLH1_uc001ngz.2_Silent_p.P468P|FOLH1_uc009yly.2_Silent_p.P453P|FOLH1_uc009ylz.2_Silent_p.P453P|FOLH1_uc009yma.2_Silent_p.P160P	189	GBM-27-1830-TP	p.P468P	C	TGTACATCAGCGGTGTACAAT	NM_004476	NP_004467	49186293	Q04609	FOLH1_HUMAN	0			13	1665	-	T	T			Silent	468			NAALADase.|Extracellular (Probable).			
FOLH1B	219595	broad.mit.edu	GRCh37	11	89424164	89424164	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000525540.1:n.1340C>T		p.*447*	ENST00000525540				0	T:0.0002		1			T		uc001pda.2	processed_transcript	YES													ovary(3)|skin(2)|central_nervous_system(1)	6	c.(814-816)CGA>TGA				folate hydrolase 1B			T:0			14-Nov									rs371957815	14-Nov	.		ENST00000525540	Transcript			proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	ENSG00000134612	g.chr11:89424164C>T	13636			MODIFIER		0	NA	NA	NA	getma.org/?cm=var&var=hg19,11,89424164,C,T&fts=all	R272*	--	--	1																																				1			p.R272*	NM_153696	NP_710163					FOLH1B	HGNC	Q9HBA9	FOH1B_HUMAN					11	1340	+				272					SNV	FOLH1B,non_coding_transcript_exon_variant,,ENST00000532352,;FOLH1B,non_coding_transcript_exon_variant,,ENST00000531315,;FOLH1B,non_coding_transcript_exon_variant,,ENST00000525540,;FOLH1B,non_coding_transcript_exon_variant,,ENST00000526379,;FOLH1B,non_coding_transcript_exon_variant,,ENST00000529567,;	uc001pda.2	c.814C>T	1340/1974	5	2			c.814C>T						11	SNP	c.(814-816)CGA>TGA	25	25			ovary(3)|skin(2)|central_nervous_system(1)	6	Broad	folate hydrolase 1B			89424164		0.408	ENSG00000134612	5877	g.chr11:89424164C>T	proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity							-27.87636	KEEP	11	12	-1	143	103	11	12	-1	8.824327	143	103	0.032468	1	0	0	0	0	0	1	0	0	--	--		0	T				23	GBM-06-0145-TP	p.R272*	C	GGCCCAGGTTCGAGGAGGGAT	NM_153696	NP_710163	89424164	Q9HBA9	FOH1B_HUMAN	0			11	1340	+	T	T			Nonsense_Mutation	272						
FOLH1B	219595	broad.mit.edu	GRCh37	11	89405127	89405127	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G			TCGA-06-1804-01	TCGA-06-1804-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000525540.1:n.780C>G		p.*260*	ENST00000525540				0			1			G		uc001pda.2	processed_transcript	YES													ovary(3)|skin(2)|central_nervous_system(1)	6	c.(253-255)GCT>GGT				folate hydrolase 1B						14-May									COSM2152450	14-May	.		ENST00000525540	Transcript			proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	ENSG00000134612	g.chr11:89405127C>G	13636			MODIFIER		3.135	medium	getma.org/?cm=msa&ty=f&p=FOH1B_HUMAN&rb=62&re=254&var=A85G	getma.org/pdb.php?prot=FOH1B_HUMAN&from=62&to=254&var=A85G	getma.org/?cm=var&var=hg19,11,89405127,C,G&fts=all	A85G	--	--	1																																			1	1			p.A85G	NM_153696	NP_710163			1		FOLH1B	HGNC	Q9HBA9	FOH1B_HUMAN					5	780	+				85					SNV	FOLH1B,non_coding_transcript_exon_variant,,ENST00000532352,;FOLH1B,non_coding_transcript_exon_variant,,ENST00000531315,;FOLH1B,non_coding_transcript_exon_variant,,ENST00000525540,;FOLH1B,non_coding_transcript_exon_variant,,ENST00000526379,;FOLH1B,non_coding_transcript_exon_variant,,ENST00000529567,;	uc001pda.2	c.254C>G	780/1974	3	3			c.254C>G						11	SNP	c.(253-255)GCT>GGT	53	53			ovary(3)|skin(2)|central_nervous_system(1)	6	Broad	folate hydrolase 1B			89405127		0.368	ENSG00000134612	5877	g.chr11:89405127C>G	proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity							66.616475	KEEP	11	10	-1	13	13	11	10	-1	66.699736	13	13	0.452381	1	0	0	0	0	1	0	0	0	--	--		0	G				79	GBM-06-1804-TP	p.A85G	C	AGTGGAGCAGCTGTTGTTCAT	NM_153696	NP_710163	89405127	Q9HBA9	FOH1B_HUMAN	0			5	780	+	G	G			Missense_Mutation	85						
FOLH1B	0	broad.mit.edu	GRCh37	11	89424051	89424054	+	splice_region_variant,non_coding_transcript_exon_variant	Splice_Region	DEL	AAAC	AAAC	-			TCGA-19-2629-01	TCGA-19-2629-01	AAAC	AAAC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000525540.1:n.1234_1237delCAAA		p.X412_splice	ENST00000525540				0			1			-		uc001pda.2	processed_transcript	YES													ovary(3)|skin(2)|central_nervous_system(1)	6	c.(700-705)GAAACAfs				folate hydrolase 1B						14-Nov									rs771922810	14-Nov	.		ENST00000525540	Transcript			proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	ENSG00000134612	g.chr11:89424051_89424054delAAAC	13636	7		LOW								--	--	1																																				1			p.E234fs	NM_153696	NP_710163					FOLH1B	HGNC	Q9HBA9	FOH1B_HUMAN					11	1227_1230	+				234_235					deletion	FOLH1B,splice_region_variant,,ENST00000532352,;FOLH1B,splice_region_variant,,ENST00000531315,;FOLH1B,splice_region_variant,,ENST00000525540,;FOLH1B,splice_region_variant,,ENST00000526379,;FOLH1B,splice_region_variant,,ENST00000529567,;	uc001pda.2	c.701_704delAAAC	1227-1230/1974	5	5			c.701_704delAAAC						11	DEL	c.(700-705)GAAACAfs	4	4			ovary(3)|skin(2)|central_nervous_system(1)	6	Broad	folate hydrolase 1B			89424054		0.319	ENSG00000134612	5877	g.chr11:89424051_89424054delAAAC	proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity																				0.22	1	1	0	1	0	0	0	0	0	--	--		0	-				166	GBM-19-2629-TP	p.E234fs	AAAC	TTTCTGTAGGAAACAAACAAATTC	NM_153696	NP_710163	89424051	Q9HBA9	FOH1B_HUMAN	0			11	1227_1230	+	-	-			Frame_Shift_Del	234_235						
FOLR1	2348	broad.mit.edu	GRCh37	11	71906672	71906672	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393679.1:c.374G>A	p.Arg125His	p.R125H	ENST00000393679		125	cGc/cAc	0			1			A	R/H	uc001orz.1	protein_coding		CCDS8211.1			374/774									ovary(1)	1	c.(373-375)CGC>CAC			hmmpanther:PTHR10517:SF15,hmmpanther:PTHR10517,Pfam_domain:PF03024	folate receptor 1 precursor				ENSP00000308137		5-Apr									COSM2149608	5-Apr	.		ENST00000312293	Transcript	1		cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity	ENSG00000110195	g.chr11:71906672G>A	3791			MODERATE		3.32	medium	getma.org/?cm=msa&ty=f&p=FOLR1_HUMAN&rb=36&re=211&var=R125H	NA	getma.org/?cm=var&var=hg19,11,71906672,G,A&fts=all	R125H	--	--	1																																		FOLR1_uc001osa.1_Missense_Mutation_p.R125H|FOLR1_uc001osb.1_Missense_Mutation_p.R125H|FOLR1_uc001osc.1_Missense_Mutation_p.R125H|FOLR1_uc001osd.1_Missense_Mutation_p.R125H	1			possibly_damaging(0.523)	p.R125H	NM_016724	NP_057936		deleterious(0)	1	FOLR1_HUMAN	FOLR1	HGNC	P15328	FOLR1_HUMAN			Q9NP04_HUMAN,Q96QD1_HUMAN,Q6LDL1_HUMAN		5	512	+			UPI0000000C4C	125					SNV	FOLR1,missense_variant,p.Arg125His,ENST00000393679,;FOLR1,missense_variant,p.Arg125His,ENST00000312293,NM_016725.2;FOLR1,missense_variant,p.Arg125His,ENST00000393681,NM_016724.2;FOLR1,missense_variant,p.Arg125His,ENST00000393676,NM_016729.2,NM_000802.3;RP11-807H22.7,intron_variant,,ENST00000378140,;	uc001orz.1	c.374G>A	584/1107	2	2			c.374G>A						11	SNP	c.(373-375)CGC>CAC	24	24			ovary(1)	1	Broad	folate receptor 1 precursor			71906672		0.537	ENSG00000110195	5878	g.chr11:71906672G>A	cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity							136.265535	KEEP	24	23	-1	29	32	24	23	-1	136.443344	29	32	0.454545	1	0	0	0	0	1	0	0	0	--	--		0	A			FOLR1_uc001osa.1_Missense_Mutation_p.R125H|FOLR1_uc001osb.1_Missense_Mutation_p.R125H|FOLR1_uc001osc.1_Missense_Mutation_p.R125H|FOLR1_uc001osd.1_Missense_Mutation_p.R125H	18	GBM-06-0137-TP	p.R125H	G	CAGAGCTGGCGCAAAGAGCGG	NM_016724	NP_057936	71906672	P15328	FOLR1_HUMAN	0			5	512	+	A	A			Missense_Mutation	125						
FOLR4	0	broad.mit.edu	GRCh37	11	94040372	94040372	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0211-01	TCGA-06-0211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000440961.2:c.369G>A	p.Pro123=	p.P123=	ENST00000440961	NM_001199206.1	123	ccG/ccA	0	A:0		1			A	P	uc010rud.1	protein_coding	YES				369/732									ovary(1)	1	c.(367-369)CCG>CCA			hmmpanther:PTHR10517:SF10,hmmpanther:PTHR10517,Pfam_domain:PF03024	folate receptor 4 (delta) homolog			A:0.0005	ENSP00000416935		4-Mar	0.000148	0.00034	0.000268			0.000367	0.00189		rs201258390,COSM3398215	4-Mar	.		ENST00000440961	Transcript				extracellular region	folic acid binding|receptor activity	ENSG00000183560	g.chr11:94040372G>A	32565			LOW								--	--	1																																			0,1	1			p.P123P	NM_001080486	NP_001073955			0,1	FOLR4_HUMAN	FOLR4	HGNC	A6ND01	FOLR4_HUMAN					3	369	+			UPI00003E58FA	130					SNV	FOLR4,synonymous_variant,p.=,ENST00000440961,NM_001199206.1;FOLR4,synonymous_variant,p.=,ENST00000328458,;	uc010rud.1	c.369G>A	413/805	2	2			c.369G>A						11	SNP	c.(367-369)CCG>CCA	20	20			ovary(1)	1	Broad	folate receptor 4 (delta) homolog			94040372		0.542	ENSG00000183560	5881	g.chr11:94040372G>A		extracellular region	folic acid binding|receptor activity							24.468251	KEEP	3	8	-1	14	3	3	8	-1	24.797731	14	3	0.375	1	0	0	0	0	0	0	1	0	--	--		0	A				48	GBM-06-0211-TP	p.P123P	G	TGAATGTGCCGCTGTGCCAGG	NM_001080486	NP_001073955	94040372	A6ND01	FOLR4_HUMAN	0			3	369	+	A	A			Silent	130						
FOLR4	0	broad.mit.edu	GRCh37	11	94040846	94040846	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0216-01	TCGA-06-0216-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000440961.2:c.720G>A	p.Pro240=	p.P240=	ENST00000440961	NM_001199206.1	240	ccG/ccA	0	A:0		1			A	P	uc010rud.1	protein_coding	YES				720/732									ovary(1)	1	c.(718-720)CCG>CCA				folate receptor 4 (delta) homolog			A:0.0001	ENSP00000416935		4-Apr	3.30E-05		8.64E-05			4.50E-05			rs376599967,COSM3398216	4-Apr	.		ENST00000440961	Transcript				extracellular region	folic acid binding|receptor activity	ENSG00000183560	g.chr11:94040846G>A	32565			LOW								--	--	1																																			0,1	1			p.P240P	NM_001080486	NP_001073955			0,1	FOLR4_HUMAN	FOLR4	HGNC	A6ND01	FOLR4_HUMAN					4	720	+			UPI00003E58FA	247					SNV	FOLR4,synonymous_variant,p.=,ENST00000440961,NM_001199206.1;FOLR4,downstream_gene_variant,,ENST00000328458,;	uc010rud.1	c.720G>A	764/805	2	2			c.720G>A						11	SNP	c.(718-720)CCG>CCA	46	46			ovary(1)	1	Broad	folate receptor 4 (delta) homolog			94040846		0.617	ENSG00000183560	5881	g.chr11:94040846G>A		extracellular region	folic acid binding|receptor activity							376.182852	KEEP	110	66	-1	95	81	110	66	-1	376.216502	95	81	0.512712	1	0	0	0	0	0	0	1	0	--	--		0	A				51	GBM-06-0216-TP	p.P240P	G	TGTTCCTGCCGTTCCTTTCCT	NM_001080486	NP_001073955	94040846	A6ND01	FOLR4_HUMAN	0			4	720	+	A	A			Silent	247						
FOS	0	broad.mit.edu	GRCh37	14	75745716	75745716	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-2494-01	TCGA-32-2494-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303562.4:c.31G>C	p.Glu11Gln	p.E11Q	ENST00000303562	NM_005252.3	11	Gag/Cag	0			1			C	E/Q	uc001xrn.2	protein_coding	YES	CCDS9841.1			31/1143									lung(2)|ovary(1)	3	c.(31-33)GAG>CAG			hmmpanther:PTHR23351,hmmpanther:PTHR23351:SF4	v-fos FBJ murine osteosarcoma viral oncogene				ENSP00000306245		4-Jan									COSM3401475	4-Jan	.		ENST00000303562	Transcript	1		cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	ENSG00000170345	g.chr14:75745716G>C	3796			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=FOS_HUMAN&rb=1&re=134&var=E11Q	NA	getma.org/?cm=var&var=hg19,14,75745716,G,C&fts=all	E11Q	--	--	1																																		FOS_uc010tva.1_Missense_Mutation_p.E11Q|FOS_uc010asi.2_5'Flank|FOS_uc001xro.2_5'Flank	1	1		possibly_damaging(0.586)	p.E11Q	NM_005252	NP_005243		deleterious(0.01)	1	FOS_HUMAN	FOS	HGNC	P01100	FOS_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0117)	Q76MZ0_HUMAN,Q76MY9_HUMAN,Q6FG41_HUMAN,G3V2V7_HUMAN,A8K4E2_HUMAN		1	236	+		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)	UPI000000D8F5	11					SNV	FOS,missense_variant,p.Glu11Gln,ENST00000303562,NM_005252.3;FOS,missense_variant,p.Glu11Gln,ENST00000535987,;FOS,missense_variant,p.Glu11Gln,ENST00000554617,;FOS,missense_variant,p.Glu11Gln,ENST00000555242,;FOS,missense_variant,p.Glu11Gln,ENST00000554212,;FOS,upstream_gene_variant,,ENST00000555686,;FOS,upstream_gene_variant,,ENST00000555347,;FOS,upstream_gene_variant,,ENST00000555672,;FOS,upstream_gene_variant,,ENST00000557139,;FOS,non_coding_transcript_exon_variant,,ENST00000556324,;	uc001xrn.2	c.31G>C	240/2158	3	3			c.31G>C						14	SNP	c.(31-33)GAG>CAG	56	56			lung(2)|ovary(1)	3	Broad	v-fos FBJ murine osteosarcoma viral oncogene			75745716		0.662	ENSG00000170345	5882	g.chr14:75745716G>C	cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			232			232	1.529753	KEEP	2	0	-1	16	16	2	0	-1	6.558414	16	16	0.074074	1	0	0	0	0	1	0	0	0	--	--		0	C			FOS_uc010tva.1_Missense_Mutation_p.E11Q|FOS_uc010asi.2_5'Flank|FOS_uc001xro.2_5'Flank	236	GBM-32-2494-TP	p.E11Q	G	CGCAGACTACGAGGCGTCATC	NM_005252	NP_005243	75745716	P01100	FOS_HUMAN	0		BRCA - Breast invasive adenocarcinoma(234;0.0117)	1	236	+	C	C		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)	Missense_Mutation	11						
FOSB	2354	broad.mit.edu	GRCh37	19	45973902	45973902	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01	TCGA-06-0168-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000353609.3:c.142G>A	p.Gly48Arg	p.G48R	ENST00000353609	NM_006732.2	48	Ggg/Agg	0			1			A	G/R	uc002pbx.3	protein_coding	YES	CCDS12664.1			142/1017									ovary(2)|lung(1)	3	c.(142-144)GGG>AGG			hmmpanther:PTHR23351:SF3,hmmpanther:PTHR23351	FBJ murine osteosarcoma viral oncogene homolog B				ENSP00000245919		4-Feb	1.65E-05				0.000151			6.77E-05	rs749291738,COSM2150216	4-Feb	.		ENST00000353609	Transcript			behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	ENSG00000125740	g.chr19:45973902G>A	3797			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=FOSB_HUMAN&rb=1&re=152&var=G48R	NA	getma.org/?cm=var&var=hg19,19,45973902,G,A&fts=all	G48R	--	--	1																																		ERCC1_uc002pbu.1_Intron|FOSB_uc002pbw.2_Missense_Mutation_p.G48R|FOSB_uc010eke.2_Intron|FOSB_uc002pby.3_Missense_Mutation_p.G48R|FOSB_uc010eka.1_Intron|FOSB_uc010ekb.1_Missense_Mutation_p.G48R|FOSB_uc010ekc.1_Intron|FOSB_uc010ekf.2_Intron|FOSB_uc010ekd.1_Missense_Mutation_p.G48R|FOSB_uc010ekg.2_Intron|FOSB_uc002pca.3_5'UTR	0,1	1		probably_damaging(0.956)	p.G48R	NM_006732	NP_006723		deleterious(0.02)	0,1	FOSB_HUMAN	FOSB	HGNC	P53539	FOSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)	Q49AD7_HUMAN,K7ERZ8_HUMAN,K7EKC1_HUMAN,K7EKA0_HUMAN		2	734	+		Ovarian(192;0.051)|all_neural(266;0.112)	UPI000004F5D2	48					SNV	FOSB,missense_variant,p.Gly48Arg,ENST00000353609,NM_006732.2;FOSB,missense_variant,p.Gly48Arg,ENST00000417353,NM_001114171.1;FOSB,missense_variant,p.Gly48Arg,ENST00000590335,;FOSB,missense_variant,p.Gly48Arg,ENST00000592436,;FOSB,5_prime_UTR_variant,,ENST00000586615,;FOSB,5_prime_UTR_variant,,ENST00000592811,;FOSB,5_prime_UTR_variant,,ENST00000589593,;FOSB,intron_variant,,ENST00000591858,;FOSB,intron_variant,,ENST00000585836,;FOSB,intron_variant,,ENST00000443841,;ERCC1,intron_variant,,ENST00000423698,;FOSB,non_coding_transcript_exon_variant,,ENST00000586113,;FOSB,upstream_gene_variant,,ENST00000587358,;	uc002pbx.3	c.142G>A	734/3775	2	2			c.142G>A						19	SNP	c.(142-144)GGG>AGG	18	18			ovary(2)|lung(1)	3	Broad	FBJ murine osteosarcoma viral oncogene homolog B			45973902		0.408	ENSG00000125740	5883	g.chr19:45973902G>A	behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding							322.310993	KEEP	69	60	-1	142	105	69	60	-1	329.17991	142	105	0.342857	1	0	0	0	0	1	0	0	0	--	--		0	A			ERCC1_uc002pbu.1_Intron|FOSB_uc002pbw.2_Missense_Mutation_p.G48R|FOSB_uc010eke.2_Intron|FOSB_uc002pby.3_Missense_Mutation_p.G48R|FOSB_uc010eka.1_Intron|FOSB_uc010ekb.1_Missense_Mutation_p.G48R|FOSB_uc010ekc.1_Intron|FOSB_uc010ekf.2_Intron|FOSB_uc010ekd.1_Missense_Mutation_p.G48R|FOSB_uc010ekg.2_Intron|FOSB_uc002pca.3_5'UTR	33	GBM-06-0168-TP	p.G48R	G	CGCCGGTCTCGGGGAAATGCC	NM_006732	NP_006723	45973902	P53539	FOSB_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)	2	734	+	A	A		Ovarian(192;0.051)|all_neural(266;0.112)	Missense_Mutation	48						
FOXA1	3169	broad.mit.edu	GRCh37	14	38061527	38061527	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0122-01	TCGA-06-0122-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000250448.2:c.462C>T	p.Gly154=	p.G154=	ENST00000250448	NM_004496.3	154	ggC/ggT	0			1			A	G	uc001wuf.2	protein_coding	YES	CCDS9665.1			462/1419										0	c.(460-462)GGC>GGT			Pfam_domain:PF08430,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF132	forkhead box A1				ENSP00000250448		2-Feb									COSM955602	2-Feb	.		ENST00000250448	Transcript			chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	ENSG00000129514	g.chr14:38061527G>A	5021			LOW								--	--	1																																		FOXA1_uc010tpz.1_Silent_p.G121G	1	1			p.G154G	NM_004496	NP_004487			1	FOXA1_HUMAN	FOXA1	HGNC	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	B7ZAP5_HUMAN		2	774	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		UPI000013CCBA	154					SNV	FOXA1,synonymous_variant,p.=,ENST00000250448,NM_004496.3;FOXA1,synonymous_variant,p.=,ENST00000540786,;TTC6,upstream_gene_variant,,ENST00000556845,;FOXA1,non_coding_transcript_exon_variant,,ENST00000545425,;FOXA1,downstream_gene_variant,,ENST00000554607,;FOXA1,downstream_gene_variant,,ENST00000557418,;FOXA1,downstream_gene_variant,,ENST00000553751,;	uc001wuf.2	c.462C>T	524/2862	1	1			c.462C>T						14	SNP	c.(460-462)GGC>GGT	63	63				0	Broad	forkhead box A1			38061527		0.567	ENSG00000129514	5886	g.chr14:38061527G>A	chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding							33.260221	KEEP	10	7	-1	41	21	10	7	-1	37.441587	41	21	0.238806	1	0	0	0	0	0	0	1	0	--	--		0	A			FOXA1_uc010tpz.1_Silent_p.G121G	10	GBM-06-0122-TP	p.G154G	G	cgccgccgccgcccgcgcggc	NM_004496	NP_004487	38061527	P55317	FOXA1_HUMAN	0	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	774	-	A	A	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Silent	154						
FOXA1	0	broad.mit.edu	GRCh37	14	38061904	38061904	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01	TCGA-16-0846-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000250448.2:c.85G>A	p.Val29Ile	p.V29I	ENST00000250448	NM_004496.3	29	Gtc/Atc	0			1			T	V/I	uc001wuf.2	protein_coding	YES	CCDS9665.1			85/1419										0	c.(85-87)GTC>ATC			Pfam_domain:PF08430,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF132	forkhead box A1				ENSP00000250448		2-Feb									COSM3401304	2-Feb	.		ENST00000250448	Transcript			chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	ENSG00000129514	g.chr14:38061904C>T	5021			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=FOXA1_HUMAN&rb=17&re=169&var=V29I	NA	getma.org/?cm=var&var=hg19,14,38061904,C,T&fts=all	V29I	--	--	1																																		FOXA1_uc010tpz.1_5'UTR	1	1		benign(0.233)	p.V29I	NM_004496	NP_004487		tolerated(0.09)	1	FOXA1_HUMAN	FOXA1	HGNC	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	B7ZAP5_HUMAN		2	397	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		UPI000013CCBA	29					SNV	FOXA1,missense_variant,p.Val29Ile,ENST00000250448,NM_004496.3;FOXA1,5_prime_UTR_variant,,ENST00000540786,;TTC6,upstream_gene_variant,,ENST00000556845,;FOXA1,non_coding_transcript_exon_variant,,ENST00000545425,;FOXA1,downstream_gene_variant,,ENST00000554607,;FOXA1,downstream_gene_variant,,ENST00000557418,;FOXA1,3_prime_UTR_variant,,ENST00000553751,;	uc001wuf.2	c.85G>A	147/2862	2	2			c.85G>A						14	SNP	c.(85-87)GTC>ATC	22	22				0	Broad	forkhead box A1			38061904		0.632	ENSG00000129514	5886	g.chr14:38061904C>T	chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding							108.260125	KEEP	23	21	-1	59	22	23	21	-1	110.490967	59	22	0.353448	1	0	0	0	0	1	0	0	0	--	--		0	T			FOXA1_uc010tpz.1_5'UTR	155	GBM-16-0846-TP	p.V29I	C	CTGACCGGGACGGAGGAGTAG	NM_004496	NP_004487	38061904	P55317	FOXA1_HUMAN	0	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	397	-	T	T	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Missense_Mutation	29						
FOXA1	0	broad.mit.edu	GRCh37	14	38061688	38061688	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000250448.2:c.301G>A	p.Val101Met	p.V101M	ENST00000250448	NM_004496.3	101	Gtg/Atg	0			1			T	V/M	uc001wuf.2	protein_coding	YES	CCDS9665.1			301/1419										0	c.(301-303)GTG>ATG			Pfam_domain:PF08430,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF132,Low_complexity_(Seg):seg	forkhead box A1				ENSP00000250448		2-Feb									COSM2156112	2-Feb	.		ENST00000250448	Transcript			chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	ENSG00000129514	g.chr14:38061688C>T	5021			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=FOXA1_HUMAN&rb=17&re=169&var=V101M	NA	getma.org/?cm=var&var=hg19,14,38061688,C,T&fts=all	V101M	--	--	1																																		FOXA1_uc010tpz.1_Missense_Mutation_p.V68M	1	1		benign(0.25)	p.V101M	NM_004496	NP_004487		tolerated(0.22)	1	FOXA1_HUMAN	FOXA1	HGNC	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	B7ZAP5_HUMAN		2	613	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		UPI000013CCBA	101					SNV	FOXA1,missense_variant,p.Val101Met,ENST00000250448,NM_004496.3;FOXA1,missense_variant,p.Val68Met,ENST00000540786,;TTC6,upstream_gene_variant,,ENST00000556845,;FOXA1,non_coding_transcript_exon_variant,,ENST00000545425,;FOXA1,downstream_gene_variant,,ENST00000554607,;FOXA1,downstream_gene_variant,,ENST00000557418,;FOXA1,downstream_gene_variant,,ENST00000553751,;	uc001wuf.2	c.301G>A	363/2862	1	1			c.301G>A						14	SNP	c.(301-303)GTG>ATG	1	1				0	Broad	forkhead box A1			38061688		0.741	ENSG00000129514	5886	g.chr14:38061688C>T	chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding							12.069675	KEEP	4	5	-1	4	7	4	5	-1	12.438847	4	7	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	T			FOXA1_uc010tpz.1_Missense_Mutation_p.V68M	160	GBM-19-1790-TP	p.V101M	C	ATGGCCGTCACGCCGGCCGCA	NM_004496	NP_004487	38061688	P55317	FOXA1_HUMAN	0	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	613	-	T	T	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Missense_Mutation	101						
FOXA1	0	broad.mit.edu	GRCh37	14	38061515	38061515	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5950-01	TCGA-19-5950-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000250448.2:c.474C>T	p.Asp158=	p.D158=	ENST00000250448	NM_004496.3	158	gaC/gaT	0			1			A	D	uc001wuf.2	protein_coding	YES	CCDS9665.1			474/1419										0	c.(472-474)GAC>GAT			Pfam_domain:PF08430,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF132	forkhead box A1				ENSP00000250448		2-Feb									COSM3401303	2-Feb	.		ENST00000250448	Transcript			chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	ENSG00000129514	g.chr14:38061515G>A	5021			LOW								--	--	1																																		FOXA1_uc010tpz.1_Silent_p.D125D	1	1			p.D158D	NM_004496	NP_004487			1	FOXA1_HUMAN	FOXA1	HGNC	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	B7ZAP5_HUMAN		2	786	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		UPI000013CCBA	158					SNV	FOXA1,synonymous_variant,p.=,ENST00000250448,NM_004496.3;FOXA1,synonymous_variant,p.=,ENST00000540786,;TTC6,upstream_gene_variant,,ENST00000556845,;FOXA1,non_coding_transcript_exon_variant,,ENST00000545425,;FOXA1,downstream_gene_variant,,ENST00000554607,;FOXA1,downstream_gene_variant,,ENST00000557418,;FOXA1,downstream_gene_variant,,ENST00000553751,;	uc001wuf.2	c.474C>T	536/2862	1	1			c.474C>T						14	SNP	c.(472-474)GAC>GAT	60	60				0	Broad	forkhead box A1			38061515		0.557	ENSG00000129514	5886	g.chr14:38061515G>A	chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding							18.423789	KEEP	6	5	-1	24	26	6	5	-1	24.081184	24	26	0.175439	1	0	0	0	0	0	0	1	0	--	--		0	A			FOXA1_uc010tpz.1_Silent_p.D125D	170	GBM-19-5950-TP	p.D158D	G	ACGTCTTGGCGTcgccgccgc	NM_004496	NP_004487	38061515	P55317	FOXA1_HUMAN	0	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	786	-	A	A	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Silent	158						
FOXA1	0	broad.mit.edu	GRCh37	14	38060669	38060669	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-1834-01	TCGA-27-1834-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000250448.2:c.1320C>T	p.Gly440=	p.G440=	ENST00000250448	NM_004496.3	440	ggC/ggT	0			1			A	G	uc001wuf.2	protein_coding	YES	CCDS9665.1			1320/1419										0	c.(1318-1320)GGC>GGT			Pfam_domain:PF09354,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF132	forkhead box A1				ENSP00000250448		2-Feb	1.65E-05							0.000121	rs752035534,COSM3401301	2-Feb	.		ENST00000250448	Transcript			chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	ENSG00000129514	g.chr14:38060669G>A	5021			LOW								--	--	1																																		FOXA1_uc010tpz.1_Silent_p.G407G	0,1	1			p.G440G	NM_004496	NP_004487			0,1	FOXA1_HUMAN	FOXA1	HGNC	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	B7ZAP5_HUMAN		2	1632	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		UPI000013CCBA	440					SNV	FOXA1,synonymous_variant,p.=,ENST00000250448,NM_004496.3;FOXA1,synonymous_variant,p.=,ENST00000540786,;TTC6,upstream_gene_variant,,ENST00000556845,;FOXA1,non_coding_transcript_exon_variant,,ENST00000545425,;FOXA1,downstream_gene_variant,,ENST00000554607,;FOXA1,downstream_gene_variant,,ENST00000557418,;FOXA1,downstream_gene_variant,,ENST00000553751,;	uc001wuf.2	c.1320C>T	1382/2862	2	2			c.1320C>T						14	SNP	c.(1318-1320)GGC>GGT	45	45				0	Broad	forkhead box A1			38060669		0.607	ENSG00000129514	5886	g.chr14:38060669G>A	chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding							120.977745	KEEP	24	24	-1	17	23	24	24	-1	121.511308	17	23	0.594203	1	0	0	0	0	0	0	1	0	--	--		0	A			FOXA1_uc010tpz.1_Silent_p.G407G	193	GBM-27-1834-TP	p.G440G	G	CCGAGGCGCTGCCTAGAGGCA	NM_004496	NP_004487	38060669	P55317	FOXA1_HUMAN	0	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	1632	-	A	A	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Silent	440						
FOXA1	0	broad.mit.edu	GRCh37	14	38060635	38060635	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-27-2523-01	TCGA-27-2523-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000250448.2:c.1354C>G	p.Pro452Ala	p.P452A	ENST00000250448	NM_004496.3	452	Ccc/Gcc	0			1			C	P/A	uc001wuf.2	protein_coding	YES	CCDS9665.1			1354/1419										0	c.(1354-1356)CCC>GCC			Pfam_domain:PF09354,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF132	forkhead box A1				ENSP00000250448		2-Feb									COSM3401300	2-Feb	.		ENST00000250448	Transcript			chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	ENSG00000129514	g.chr14:38060635G>C	5021			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=FOXA1_HUMAN&rb=397&re=461&var=P452A	NA	getma.org/?cm=var&var=hg19,14,38060635,G,C&fts=all	P452A	--	--	1																																		FOXA1_uc010tpz.1_Missense_Mutation_p.P419A	1	1		benign(0.089)	p.P452A	NM_004496	NP_004487		tolerated(0.13)	1	FOXA1_HUMAN	FOXA1	HGNC	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	B7ZAP5_HUMAN		2	1666	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		UPI000013CCBA	452					SNV	FOXA1,missense_variant,p.Pro452Ala,ENST00000250448,NM_004496.3;FOXA1,missense_variant,p.Pro419Ala,ENST00000540786,;TTC6,upstream_gene_variant,,ENST00000556845,;FOXA1,non_coding_transcript_exon_variant,,ENST00000545425,;FOXA1,downstream_gene_variant,,ENST00000554607,;FOXA1,downstream_gene_variant,,ENST00000557418,;FOXA1,downstream_gene_variant,,ENST00000553751,;	uc001wuf.2	c.1354C>G	1416/2862	4	4			c.1354C>G						14	SNP	c.(1354-1356)CCC>GCC	35	35				0	Broad	forkhead box A1			38060635		0.617	ENSG00000129514	5886	g.chr14:38060635G>C	chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding							-19.908762	KEEP	2	2	-1	67	71	2	2	-1	9.166335	67	71	0.032787	1	0	0	0	0	1	0	0	0	--	--		0	C			FOXA1_uc010tpz.1_Missense_Mutation_p.P419A	201	GBM-27-2523-TP	p.P452A	G	AGGGCTGAGGGCTCGATGGGG	NM_004496	NP_004487	38060635	P55317	FOXA1_HUMAN	0	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	1666	-	C	C	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Missense_Mutation	452						
FOXA3	0	broad.mit.edu	GRCh37	19	46375547	46375547	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01	TCGA-32-2491-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302177.2:c.284C>T	p.Pro95Leu	p.P95L	ENST00000302177	NM_004497.2	95	cCg/cTg	0			1			T	P/L	uc002pdr.2	protein_coding	YES	CCDS12677.1			284/1053									breast(1)	1	c.(283-285)CCG>CTG			Low_complexity_(Seg):seg,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF55,Pfam_domain:PF08430	forkhead box A3				ENSP00000304004		2-Feb									COSM3404398	2-Feb	.		ENST00000302177	Transcript			brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	ENSG00000170608	g.chr19:46375547C>T	5023			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=FOXA3_HUMAN&rb=16&re=116&var=P95L	NA	getma.org/?cm=var&var=hg19,19,46375547,C,T&fts=all	P95L	--	--	1																																			1	1		unknown(0)	p.P95L	NM_004497	NP_004488		tolerated(0.44)	1	FOXA3_HUMAN	FOXA3	HGNC	P55318	FOXA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)	M0QZW5_HUMAN		2	481	+		Ovarian(192;0.0308)|all_neural(266;0.0476)	UPI0000000DF9	95					SNV	FOXA3,missense_variant,p.Pro95Leu,ENST00000302177,NM_004497.2;FOXA3,missense_variant,p.Pro62Leu,ENST00000594297,;	uc002pdr.2	c.284C>T	481/1989	2	2			c.284C>T						19	SNP	c.(283-285)CCG>CTG	32	32			breast(1)	1	Broad	forkhead box A3			46375547		0.682	ENSG00000170608	5888	g.chr19:46375547C>T	brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding							-2.710656	KEEP	2	1	-1	19	33	2	1	-1	6.319764	19	33	0.065217	1	0	0	0	0	1	0	0	0	--	--		0	T				235	GBM-32-2491-TP	p.P95L	C	TACGGGGCCCCGGGTCCTGGG	NM_004497	NP_004488	46375547	P55318	FOXA3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)	2	481	+	T	T		Ovarian(192;0.0308)|all_neural(266;0.0476)	Missense_Mutation	95						
FOXA3	3171		GRCh37	19	46375889	46375889	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000302177.2:c.626G>A	p.Arg209His	p.R209H	ENST00000302177	NM_004497.2	209	cGc/cAc	0																																																																																																																																																																																																																																												
FOXB2	0	broad.mit.edu	GRCh37	9	79635212	79635212	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-5220-01	TCGA-28-5220-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376708.1:c.642C>T	p.Pro214=	p.P214=	ENST00000376708	NM_001013735.1	214	ccC/ccT	0			1			T	P	uc004ako.1	protein_coding	YES	CCDS35045.1			642/1299										0	c.(640-642)CCC>CCT			Low_complexity_(Seg):seg,hmmpanther:PTHR11829:SF76,hmmpanther:PTHR11829	forkhead box B2				ENSP00000365898		1-Jan									COSM3413738,COSM3413739	1-Jan	.		ENST00000376708	Transcript			brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	ENSG00000204612	g.chr9:79635212C>T	23315			LOW								--	--	1																																			1,1	1			p.P214P	NM_001013735	NP_001013757			1,1	FOXB2_HUMAN	FOXB2	HGNC	Q5VYV0	FOXB2_HUMAN					1	642	+			UPI00004588EE	214					SNV	FOXB2,synonymous_variant,p.=,ENST00000376708,NM_001013735.1;	uc004ako.1	c.642C>T	642/1299	1	1			c.642C>T						9	SNP	c.(640-642)CCC>CCT	13	13				0	Broad	forkhead box B2			79635212		0.517	ENSG00000204612	5890	g.chr9:79635212C>T	brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding							6.97623	KEEP	3	5	-1	1	1	3	5	-1	6.752876	1	1	1	1	0	0	0	0	0	0	1	0	--	--		0	T				226	GBM-28-5220-TP	p.P214P	C	CGTCTCACCCCGGCAAGATGC	NM_001013735	NP_001013757	79635212	Q5VYV0	FOXB2_HUMAN	0			1	642	+	T	T			Silent	214						
FOXD4L5	653427		GRCh37	9	70177746	70177747	+	inframe_insertion	In_Frame_Ins	INS	-	-	GCC			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000377420.1:c.235_237dup	p.Gly79dup	p.G79dup	ENST00000377420	NM_001126334.1	79	-/GGC	0																																																																																																																																																																																																																																												
FOXF2	2295		GRCh37	6	1391312	1391312	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000259806.1:c.1130A>G	p.Glu377Gly	p.E377G	ENST00000259806	NM_001452.1	377	gAg/gGg	0																																																																																																																																																																																																																																												
FOXG1	0	broad.mit.edu	GRCh37	14	29236624	29236626	+	inframe_deletion	In_Frame_Del	DEL	CAC	CAC	-			TCGA-16-0846-01	TCGA-16-0846-01	CAC	CAC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313071.4:c.159_161delCCA	p.His57del	p.H57del	ENST00000313071	NM_005249.4	47	CAC/-	0	-:0.035		1			-	H/-	uc001wqe.2	protein_coding		CCDS9636.1			139-141/1470									ovary(2)|lung(2)	4	c.(139-141)CACdel			hmmpanther:PTHR25042,hmmpanther:PTHR25042:SF8,Low_complexity_(Seg):seg,Superfamily_domains:SSF81995	forkhead box G1			-:0.0387	ENSP00000339004		1-Jan									rs778351036	1-Jan	.		ENST00000313071	Transcript	1		axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	ENSG00000176165	g.chr14:29236624_29236626delCAC	3811	20		MODERATE								--	--	1																																							p.H57del	NM_005249	NP_005240				FOXG1_HUMAN	FOXG1	HGNC	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)			1	338_340	+			UPI00001AE46C	57			His-rich.		deletion	FOXG1,inframe_deletion,p.His57del,ENST00000382535,;FOXG1,inframe_deletion,p.His57del,ENST00000313071,NM_005249.4;RP11-966I7.1,upstream_gene_variant,,ENST00000551395,;RP11-966I7.1,upstream_gene_variant,,ENST00000546560,;RP11-966I7.1,upstream_gene_variant,,ENST00000549487,;	uc001wqe.2	c.139_141delCAC	338-340/2584	5	5			c.139_141delCAC						14	DEL	c.(139-141)CACdel	3	3			ovary(2)|lung(2)	4	Broad	forkhead box G1			29236626		0.241	ENSG00000176165	5902	g.chr14:29236624_29236626delCAC	axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding																				0.33	1	1	0	1	0	0	0	0	0	--	--		0	-				155	GBM-16-0846-TP	p.H57del	CAC	ccacccccagcaccaccaccacc	NM_005249	NP_005240	29236624	P55316	FOXG1_HUMAN	0	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	1	338_340	+	-	-			In_Frame_Del	57			His-rich.			
FOXG1	0	broad.mit.edu	GRCh37	14	29236624	29236626	+	inframe_deletion	In_Frame_Del	DEL	CAC	CAC	-			TCGA-19-5947-01	TCGA-19-5947-01	CAC	CAC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313071.4:c.159_161delCCA	p.His57del	p.H57del	ENST00000313071	NM_005249.4	47	CAC/-	0	-:0.035		1			-	H/-	uc001wqe.2	protein_coding		CCDS9636.1			139-141/1470									ovary(2)|lung(2)	4	c.(139-141)CACdel			hmmpanther:PTHR25042,hmmpanther:PTHR25042:SF8,Low_complexity_(Seg):seg,Superfamily_domains:SSF81995	forkhead box G1			-:0.0387	ENSP00000339004		1-Jan									rs778351036	1-Jan	.		ENST00000313071	Transcript	1		axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	ENSG00000176165	g.chr14:29236624_29236626delCAC	3811	20		MODERATE								--	--	1																																							p.H57del	NM_005249	NP_005240				FOXG1_HUMAN	FOXG1	HGNC	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)			1	338_340	+			UPI00001AE46C	57			His-rich.		deletion	FOXG1,inframe_deletion,p.His57del,ENST00000382535,;FOXG1,inframe_deletion,p.His57del,ENST00000313071,NM_005249.4;RP11-966I7.1,upstream_gene_variant,,ENST00000551395,;RP11-966I7.1,upstream_gene_variant,,ENST00000546560,;RP11-966I7.1,upstream_gene_variant,,ENST00000549487,;	uc001wqe.2	c.139_141delCAC	338-340/2584	5	5			c.139_141delCAC						14	DEL	c.(139-141)CACdel	3	3			ovary(2)|lung(2)	4	Broad	forkhead box G1			29236626		0.241	ENSG00000176165	5902	g.chr14:29236624_29236626delCAC	axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding																				0.33	1	1	0	1	0	0	0	0	0	--	--		0	-				169	GBM-19-5947-TP	p.H57del	CAC	ccacccccagcaccaccaccacc	NM_005249	NP_005240	29236624	P55316	FOXG1_HUMAN	0	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	1	338_340	+	-	-			In_Frame_Del	57			His-rich.			
FOXG1	0	broad.mit.edu	GRCh37	14	29237185	29237185	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-28-5209-01	TCGA-28-5209-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313071.4:c.700T>G	p.Ser234Ala	p.S234A	ENST00000313071	NM_005249.4	234	Tcc/Gcc	0			1			G	S/A	uc001wqe.2	protein_coding		CCDS9636.1			700/1470									ovary(2)|lung(2)	4	c.(700-702)TCC>GCC			Gene3D:1.10.10.10,Pfam_domain:PF00250,Prints_domain:PR00053,PROSITE_profiles:PS50039,hmmpanther:PTHR25042,hmmpanther:PTHR25042:SF8,SMART_domains:SM00339,Superfamily_domains:SSF46785	forkhead box G1				ENSP00000339004		1-Jan									COSM3401280	1-Jan	.		ENST00000313071	Transcript	1		axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	ENSG00000176165	g.chr14:29237185T>G	3811			MODERATE		3.615	high	getma.org/?cm=msa&ty=f&p=FOXG1_HUMAN&rb=181&re=276&var=S234A	getma.org/pdb.php?prot=FOXG1_HUMAN&from=181&to=276&var=S234A	getma.org/?cm=var&var=hg19,14,29237185,T,G&fts=all	S234A	--	--	1																																			1			probably_damaging(0.999)	p.S234A	NM_005249	NP_005240		deleterious(0)	1	FOXG1_HUMAN	FOXG1	HGNC	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)			1	899	+			UPI00001AE46C	234			Fork-head.		SNV	FOXG1,missense_variant,p.Ser234Ala,ENST00000382535,;FOXG1,missense_variant,p.Ser234Ala,ENST00000313071,NM_005249.4;C14orf23,upstream_gene_variant,,ENST00000399387,;C14orf23,upstream_gene_variant,,ENST00000552957,;C14orf23,upstream_gene_variant,,ENST00000548213,;RP11-966I7.1,upstream_gene_variant,,ENST00000551395,;RP11-966I7.1,upstream_gene_variant,,ENST00000546560,;RP11-966I7.1,upstream_gene_variant,,ENST00000549487,;	uc001wqe.2	c.700T>G	899/2584	3	3			c.700T>G						14	SNP	c.(700-702)TCC>GCC	6	6			ovary(2)|lung(2)	4	Broad	forkhead box G1			29237185		0.587	ENSG00000176165	5902	g.chr14:29237185T>G	axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding							93.39964	KEEP	23	18	-1	25	32	23	18	-1	93.61562	25	32	0.4375	1	0	0	0	0	1	0	0	0	--	--		0	G				218	GBM-28-5209-TP	p.S234A	T	CCACAATCTGTCCCTCAACAA	NM_005249	NP_005240	29237185	P55316	FOXG1_HUMAN	0	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	1	899	+	G	G			Missense_Mutation	234			Fork-head.			
FOXG1	0	broad.mit.edu	GRCh37	14	29237322	29237322	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313071.4:c.837C>T	p.Thr279=	p.T279=	ENST00000313071	NM_005249.4	279	acC/acT	0		T:0	1	T:0		T	T	uc001wqe.2	protein_coding		CCDS9636.1			837/1470									ovary(2)|lung(2)	4	c.(835-837)ACC>ACT			hmmpanther:PTHR25042,hmmpanther:PTHR25042:SF8	forkhead box G1		T:0		ENSP00000339004	T:0.001	1-Jan	2.48E-05					4.65E-05			rs570340475,COSM3401281	1-Jan	.		ENST00000313071	Transcript	1	T:0.0002	axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	ENSG00000176165	g.chr14:29237322C>T	3811			LOW								--	--	1																																			0,1				p.T279T	NM_005249	NP_005240	T:0		0,1	FOXG1_HUMAN	FOXG1	HGNC	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)			1	1036	+			UPI00001AE46C	279					SNV	FOXG1,synonymous_variant,p.=,ENST00000382535,;FOXG1,synonymous_variant,p.=,ENST00000313071,NM_005249.4;C14orf23,upstream_gene_variant,,ENST00000399387,;C14orf23,upstream_gene_variant,,ENST00000552957,;C14orf23,upstream_gene_variant,,ENST00000548213,;RP11-966I7.1,upstream_gene_variant,,ENST00000551395,;RP11-966I7.1,upstream_gene_variant,,ENST00000546560,;RP11-966I7.1,upstream_gene_variant,,ENST00000549487,;	uc001wqe.2	c.837C>T	1036/2584	1	1			c.837C>T						14	SNP	c.(835-837)ACC>ACT	7	7			ovary(2)|lung(2)	4	Broad	forkhead box G1			29237322		0.701	ENSG00000176165	5902	g.chr14:29237322C>T	axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding							36.394749	KEEP	9	13	-1	24	32	9	13	-1	41.087268	24	32	0.223881	1	0	0	0	0	0	0	1	0	--	--		0	T				229	GBM-32-1977-TP	p.T279T	C	GCTCCACCACCTCGCGGGCCA	NM_005249	NP_005240	29237322	P55316	FOXG1_HUMAN	0	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	1	1036	+	T	T			Silent	279						
FOXG1	2290		GRCh37	14	29236962	29236988	+	inframe_deletion	In_Frame_Del	DEL	GGGCGAGGGCGGCAAGGACGGGGAGGG	GGGCGAGGGCGGCAAGGACGGGGAGGG	-			TCGA-06-0151-01	TCGA-06-0151-01																				ENST00000382535.3:c.481_507del	p.Glu161_Gly169del	p.E161_G169del	ENST00000382535		159	gcGGGCGAGGGCGGCAAGGACGGGGAGGGg/gcg	0																																																																																																																																																																																																																																												
FOXH1	0	broad.mit.edu	GRCh37	8	145700407	145700407	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-1836-01	TCGA-27-1836-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377317.4:c.312G>A	p.Lys104=	p.K104=	ENST00000377317	NM_003923.2	104	aaG/aaA	0			1			T	K	uc003zdc.2	protein_coding	YES	CCDS6428.1			312/1098										0	c.(310-312)AAG>AAA			Superfamily_domains:SSF46785,SMART_domains:SM00339,Gene3D:1.10.10.10,Pfam_domain:PF00250,hmmpanther:PTHR11829:SF122,hmmpanther:PTHR11829,PROSITE_profiles:PS50039	forkhead box H1				ENSP00000366534		3-Mar									COSM3412866	3-Mar	.		ENST00000377317	Transcript	1		axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	ENSG00000160973	g.chr8:145700407C>T	3814			LOW								--	--	1																																			1	1			p.K104K	NM_003923	NP_003914			1	FOXH1_HUMAN	FOXH1	HGNC	O75593	FOXH1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)				3	891	-	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		UPI0000053417	104			Fork-head.		SNV	FOXH1,synonymous_variant,p.=,ENST00000377317,NM_003923.2;KIFC2,downstream_gene_variant,,ENST00000301332,NM_145754.2;KIFC2,downstream_gene_variant,,ENST00000301331,;FOXH1,non_coding_transcript_exon_variant,,ENST00000525197,;KIFC2,downstream_gene_variant,,ENST00000531423,;PPP1R16A,upstream_gene_variant,,ENST00000529283,;PPP1R16A,upstream_gene_variant,,ENST00000533088,;PPP1R16A,upstream_gene_variant,,ENST00000526183,;KIFC2,downstream_gene_variant,,ENST00000531425,;PPP1R16A,upstream_gene_variant,,ENST00000526643,;	uc003zdc.2	c.312G>A	891/2503	2	2			c.312G>A						8	SNP	c.(310-312)AAG>AAA	47	47				0	Broad	forkhead box H1			145700407		0.687	ENSG00000160973	5903	g.chr8:145700407C>T	axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding							8.519973	KEEP	2	1	-1	5	4	2	1	-1	9.03217	5	4	0.272727	1	0	0	0	0	0	0	1	0	--	--		0	T				195	GBM-27-1836-TP	p.K104K	C	AGAAGTTGCCCTTGGCCTGGG	NM_003923	NP_003914	145700407	O75593	FOXH1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		3	891	-	T	T	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Silent	104			Fork-head.			
FOXI1	0	broad.mit.edu	GRCh37	5	169535115	169535115	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01	TCGA-28-2509-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306268.6:c.637C>T	p.Arg213Cys	p.R213C	ENST00000306268		213	Cgc/Tgc	0			1			T	R/C	uc003mai.3	protein_coding	YES	CCDS4372.1			637/1137									breast(3)|central_nervous_system(1)	4	c.(637-639)CGC>TGC			Low_complexity_(Seg):seg,PROSITE_profiles:PS50039,hmmpanther:PTHR25042:SF11,hmmpanther:PTHR25042,Pfam_domain:PF00250,Superfamily_domains:SSF46785	forkhead box I1 isoform a				ENSP00000304286		2-Feb	2.47E-05	9.78E-05		0.000116		1.51E-05			rs775317199,COSM3410136	2-Feb	.	Pendred_syndrome	ENST00000306268	Transcript	1		epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	ENSG00000168269	g.chr5:169535115C>T	3815			MODERATE		3.615	high	getma.org/?cm=msa&ty=f&p=FOXI1_HUMAN&rb=123&re=218&var=R213C	getma.org/pdb.php?prot=FOXI1_HUMAN&from=123&to=218&var=R213C	getma.org/?cm=var&var=hg19,5,169535115,C,T&fts=all	R213C	--	--	1																																		FOXI1_uc003maj.3_Intron	0,1	1		probably_damaging(0.956)	p.R213C	NM_012188	NP_036320		deleterious(0)	0,1	FOXI1_HUMAN	FOXI1	HGNC	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		E0XEN6_HUMAN		2	682	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	UPI000013EB16	213			Fork-head.		SNV	FOXI1,missense_variant,p.Arg213Cys,ENST00000306268,;FOXI1,intron_variant,,ENST00000449804,NM_012188.4,NM_144769.2;	uc003mai.3	c.637C>T	698/1990	2	2			c.637C>T						5	SNP	c.(637-639)CGC>TGC	44	44			breast(3)|central_nervous_system(1)	4	Broad	forkhead box I1 isoform a			169535115	Pendred_syndrome	0.488	ENSG00000168269	5904	g.chr5:169535115C>T	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding							152.474647	KEEP	27	31	-1	53	60	27	31	-1	156.61786	53	60	0.326923	1	0	0	0	0	1	0	0	0	--	--		0	T			FOXI1_uc003maj.3_Intron	211	GBM-28-2509-TP	p.R213C	C	TGGAAATTTCCGCAGGAAAAG	NM_012188	NP_036320	169535115	Q12951	FOXI1_HUMAN	0	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	682	+	T	T	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Missense_Mutation	213			Fork-head.			
FOXI1	0	broad.mit.edu	GRCh37	5	169533358	169533358	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-41-3915-01	TCGA-41-3915-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306268.6:c.397G>C	p.Ala133Pro	p.A133P	ENST00000306268		133	Gcc/Ccc	0			1			C	A/P	uc003mai.3	protein_coding	YES	CCDS4372.1			397/1137									breast(3)|central_nervous_system(1)	4	c.(397-399)GCC>CCC			PROSITE_profiles:PS50039,hmmpanther:PTHR25042:SF11,hmmpanther:PTHR25042,PROSITE_patterns:PS00657,Pfam_domain:PF00250,Gene3D:1.10.10.10,SMART_domains:SM00339,Superfamily_domains:SSF46785,Prints_domain:PR00053	forkhead box I1 isoform a				ENSP00000304286		2-Jan									COSM3748294	2-Jan	.	Pendred_syndrome	ENST00000306268	Transcript	1		epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	ENSG00000168269	g.chr5:169533358G>C	3815			MODERATE		3.58	high	getma.org/?cm=msa&ty=f&p=FOXI1_HUMAN&rb=123&re=218&var=A133P	getma.org/pdb.php?prot=FOXI1_HUMAN&from=123&to=218&var=A133P	getma.org/?cm=var&var=hg19,5,169533358,G,C&fts=all	A133P	--	--	1																																		FOXI1_uc003maj.3_Missense_Mutation_p.A133P	1	1		probably_damaging(1)	p.A133P	NM_012188	NP_036320		deleterious(0)	1	FOXI1_HUMAN	FOXI1	HGNC	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		E0XEN6_HUMAN		1	442	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	UPI000013EB16	133			Fork-head.		SNV	FOXI1,missense_variant,p.Ala133Pro,ENST00000449804,NM_012188.4,NM_144769.2;FOXI1,missense_variant,p.Ala133Pro,ENST00000306268,;	uc003mai.3	c.397G>C	458/1990	3	3			c.397G>C						5	SNP	c.(397-399)GCC>CCC	62	62			breast(3)|central_nervous_system(1)	4	Broad	forkhead box I1 isoform a			169533358	Pendred_syndrome	0.642	ENSG00000168269	5904	g.chr5:169533358G>C	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding							48.177772	KEEP	5	8	-1	3	4	5	8	-1	48.574332	3	4	0.65	1	0	0	0	0	1	0	0	0	--	--		0	C			FOXI1_uc003maj.3_Missense_Mutation_p.A133P	256	GBM-41-3915-TP	p.A133P	G	GGCTCTCATCGCCATGGCCAT	NM_012188	NP_036320	169533358	Q12951	FOXI1_HUMAN	0	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	442	+	C	C	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Missense_Mutation	133			Fork-head.			
FOXI1	0	broad.mit.edu	GRCh37	5	169535162	169535162	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-76-4935-01	TCGA-76-4935-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306268.6:c.684C>A	p.Ser228=	p.S228=	ENST00000306268		228	tcC/tcA	0			1			A	S	uc003mai.3	protein_coding	YES	CCDS4372.1			684/1137									breast(3)|central_nervous_system(1)	4	c.(682-684)TCC>TCA			hmmpanther:PTHR25042:SF11,hmmpanther:PTHR25042	forkhead box I1 isoform a				ENSP00000304286		2-Feb									COSM3410137	2-Feb	.	Pendred_syndrome	ENST00000306268	Transcript	1		epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	ENSG00000168269	g.chr5:169535162C>A	3815			LOW								--	--	1																																		FOXI1_uc003maj.3_Intron	1	1			p.S228S	NM_012188	NP_036320			1	FOXI1_HUMAN	FOXI1	HGNC	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		E0XEN6_HUMAN		2	729	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	UPI000013EB16	228					SNV	FOXI1,synonymous_variant,p.=,ENST00000306268,;FOXI1,intron_variant,,ENST00000449804,NM_012188.4,NM_144769.2;	uc003mai.3	c.684C>A	745/1990	2	2			c.684C>A						5	SNP	c.(682-684)TCC>TCA	33	33			breast(3)|central_nervous_system(1)	4	Broad	forkhead box I1 isoform a			169535162	Pendred_syndrome	0.532	ENSG00000168269	5904	g.chr5:169535162C>A	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding							-11.519268	KEEP	6	7	0.538461538	81	90	6	7	0.538461538	21.700829	81	90	0.065089	1	0	0	0	0	0	0	1	0	--	--		0	A			FOXI1_uc003maj.3_Intron	273	GBM-76-4935-TP	p.S228S	C	GCACAGCCTCCTTGGCCTTAG	NM_012188	NP_036320	169535162	Q12951	FOXI1_HUMAN	0	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	729	+	A	A	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Silent	228						
FOXJ2	0	broad.mit.edu	GRCh37	12	8201337	8201337	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-2624-01	TCGA-19-2624-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000162391.3:c.1270A>G	p.Ser424Gly	p.S424G	ENST00000162391	NM_018416.2	424	Agc/Ggc	0			1			G	S/G	uc001qtu.2	protein_coding	YES	CCDS8587.1			1270/1725									upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5	c.(1270-1272)AGC>GGC			hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF103	forkhead box J2				ENSP00000162391		11-Aug									COSM2156250,COSM3399136	11-Aug	.		ENST00000162391	Transcript			embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	ENSG00000065970	g.chr12:8201337A>G	24818			MODERATE		1.74	low	getma.org/?cm=msa&ty=f&p=FOXJ2_HUMAN&rb=411&re=574&var=S424G	NA	getma.org/?cm=var&var=hg19,12,8201337,A,G&fts=all	S424G	--	--	1																																		FOXJ2_uc001qtt.1_Missense_Mutation_p.S424G	1,1	1		probably_damaging(0.958)	p.S424G	NM_018416	NP_060886		deleterious(0)	1,1	FOXJ2_HUMAN	FOXJ2	HGNC	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)			8	2355	+			UPI000012ADE1	424					SNV	FOXJ2,missense_variant,p.Ser424Gly,ENST00000162391,NM_018416.2;FOXJ2,missense_variant,p.Ser424Gly,ENST00000428177,;FOXJ2,upstream_gene_variant,,ENST00000539192,;	uc001qtu.2	c.1270A>G	2415/5523	3	3			c.1270A>G						12	SNP	c.(1270-1272)AGC>GGC	3	3			upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5	Broad	forkhead box J2			8201337		0.428	ENSG00000065970	5906	g.chr12:8201337A>G	embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding							439.593105	KEEP	59	81	-1	102	93	59	81	-1	441.588827	102	93	0.412162	1	0	0	0	0	1	0	0	0	--	--		0	G			FOXJ2_uc001qtt.1_Missense_Mutation_p.S424G	164	GBM-19-2624-TP	p.S424G	A	TTTAAAGGAAAGCTTCAAGAT	NM_018416	NP_060886	8201337	Q9P0K8	FOXJ2_HUMAN	0		Kidney(36;0.0944)	8	2355	+	G	G			Missense_Mutation	424						
FOXJ3	22887	broad.mit.edu	GRCh37	1	42657151	42657151	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0192-01	TCGA-06-0192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372572.1:c.1174C>T	p.Gln392Ter	p.Q392*	ENST00000372572	NM_001198851.1	392	Cag/Tag	0			1			A	Q/*	uc001che.2	protein_coding		CCDS30689.1			1174/1869									ovary(2)	2	c.(1174-1176)CAG>TAG			Low_complexity_(Seg):seg,hmmpanther:PTHR11829:SF104,hmmpanther:PTHR11829	forkhead box J3				ENSP00000354620		13-Sep									COSM2150661	13-Sep	.		ENST00000361346	Transcript			embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	ENSG00000198815	g.chr1:42657151G>A	29178			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,42657151,G,A&fts=all	Q392*	--	--	1																																		FOXJ3_uc001chf.2_Nonsense_Mutation_p.Q392*|FOXJ3_uc001chg.2_Nonsense_Mutation_p.Q392*|FOXJ3_uc001chh.1_Nonsense_Mutation_p.Q358*	1				p.Q392*	NM_014947	NP_055762			1	FOXJ3_HUMAN	FOXJ3	HGNC	Q9UPW0	FOXJ3_HUMAN			F6VXT0_HUMAN,C9JXI1_HUMAN		11	1486	-	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	UPI000013D359	392					SNV	FOXJ3,stop_gained,p.Gln392Ter,ENST00000372572,NM_001198851.1;FOXJ3,stop_gained,p.Gln392Ter,ENST00000372573,NM_001198850.1;FOXJ3,stop_gained,p.Gln392Ter,ENST00000361346,NM_014947.4;FOXJ3,stop_gained,p.Gln392Ter,ENST00000545068,;FOXJ3,stop_gained,p.Gln358Ter,ENST00000361776,NM_001198852.1;FOXJ3,stop_gained,p.Gln358Ter,ENST00000445886,;FOXJ3,upstream_gene_variant,,ENST00000372571,;FOXJ3,downstream_gene_variant,,ENST00000422278,;	uc001che.2	c.1174C>T	1365/5225	5	2			c.1174C>T						1	SNP	c.(1174-1176)CAG>TAG	18	18			ovary(2)	2	Broad	forkhead box J3			42657151		0.592	ENSG00000198815	5907	g.chr1:42657151G>A	embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding							112.802694	KEEP	39	19	-1	95	54	39	19	-1	120.736444	95	54	0.276836	1	0	0	0	0	0	1	0	0	--	--		0	A			FOXJ3_uc001chf.2_Nonsense_Mutation_p.Q392*|FOXJ3_uc001chg.2_Nonsense_Mutation_p.Q392*|FOXJ3_uc001chh.1_Nonsense_Mutation_p.Q358*	44	GBM-06-0192-TP	p.Q392*	G	TGCGGATGCTGCGGTAAACCA	NM_014947	NP_055762	42657151	Q9UPW0	FOXJ3_HUMAN	0			11	1486	-	A	A	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	Nonsense_Mutation	392						
FOXJ3	0	broad.mit.edu	GRCh37	1	42693556	42693556	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01	TCGA-12-3650-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361346.1:c.526C>T	p.Arg176Trp	p.R176W	ENST00000361346	NM_014947.4	176	Cgg/Tgg	0			1			A	R/W	uc001che.2	protein_coding		CCDS30689.1			526/1869									ovary(2)	2	c.(526-528)CGG>TGG			hmmpanther:PTHR11829:SF104,hmmpanther:PTHR11829	forkhead box J3				ENSP00000354620		13-May									COSM1342691	13-May	.		ENST00000361346	Transcript			embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	ENSG00000198815	g.chr1:42693556G>A	29178			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=FOXJ3_HUMAN&rb=144&re=210&var=R176W	NA	getma.org/?cm=var&var=hg19,1,42693556,G,A&fts=all	R176W	--	--	1																																		FOXJ3_uc001chf.2_Missense_Mutation_p.R176W|FOXJ3_uc001chg.2_Missense_Mutation_p.R176W|FOXJ3_uc001chh.1_Missense_Mutation_p.R176W	1			possibly_damaging(0.614)	p.R176W	NM_014947	NP_055762		deleterious(0)	1	FOXJ3_HUMAN	FOXJ3	HGNC	Q9UPW0	FOXJ3_HUMAN			F6VXT0_HUMAN,C9JXI1_HUMAN		7	838	-	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	UPI000013D359	176					SNV	FOXJ3,missense_variant,p.Arg176Trp,ENST00000372572,NM_001198851.1;FOXJ3,missense_variant,p.Arg176Trp,ENST00000372573,NM_001198850.1;FOXJ3,missense_variant,p.Arg176Trp,ENST00000361346,NM_014947.4;FOXJ3,missense_variant,p.Arg176Trp,ENST00000545068,;FOXJ3,missense_variant,p.Arg176Trp,ENST00000361776,NM_001198852.1;FOXJ3,missense_variant,p.Arg176Trp,ENST00000445886,;	uc001che.2	c.526C>T	717/5225	2	2			c.526C>T						1	SNP	c.(526-528)CGG>TGG	40	40			ovary(2)	2	Broad	forkhead box J3			42693556		0.393	ENSG00000198815	5907	g.chr1:42693556G>A	embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding							211.705264	KEEP	48	26	-1	48	55	48	26	-1	212.438843	48	55	0.426752	1	0	0	0	0	1	0	0	0	--	--		0	A			FOXJ3_uc001chf.2_Missense_Mutation_p.R176W|FOXJ3_uc001chg.2_Missense_Mutation_p.R176W|FOXJ3_uc001chh.1_Missense_Mutation_p.R176W	126	GBM-12-3650-TP	p.R176W	G	GCCTTTACCCGTTCTACAGAT	NM_014947	NP_055762	42693556	Q9UPW0	FOXJ3_HUMAN	0			7	838	-	A	A	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	Missense_Mutation	176						
FOXM1	0	broad.mit.edu	GRCh37	12	2975658	2975658	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-2528-01	TCGA-27-2528-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359843.3:c.876C>T	p.His292=	p.H292=	ENST00000359843	NM_021953.3	292	caC/caT	0	A:0		1			A	H	uc001qlf.2	protein_coding		CCDS8515.1			876/2292									central_nervous_system(1)|skin(1)	2	c.(874-876)CAC>CAT			Gene3D:1.10.10.10,Pfam_domain:PF00250,Prints_domain:PR00053,PROSITE_profiles:PS50039,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF140,SMART_domains:SM00339,Superfamily_domains:SSF46785	forkhead box M1 isoform 2			A:0.0001	ENSP00000352901		9-May	5.77E-05			0.000348		4.61E-05		8.07E-05	rs373291558,COSM3398654	9-May	.		ENST00000359843	Transcript			cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	ENSG00000111206	g.chr12:2975658G>A	3818			LOW								--	--	1																																		FOXM1_uc001qle.2_Silent_p.H292H|FOXM1_uc001qlg.2_Silent_p.H292H|FOXM1_uc009zea.2_Silent_p.H291H|FOXM1_uc009zeb.2_Silent_p.H291H	0,1				p.H292H	NM_021953	NP_068772			0,1	FOXM1_HUMAN	FOXM1	HGNC	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		Q53Y49_HUMAN		5	1141	-			UPI000012ADE4	292			Fork-head.		SNV	FOXM1,synonymous_variant,p.=,ENST00000342628,NM_202002.2;FOXM1,synonymous_variant,p.=,ENST00000361953,NM_001243089.1,NM_001243088.1,NM_202003.2;FOXM1,synonymous_variant,p.=,ENST00000359843,NM_021953.3;FOXM1,synonymous_variant,p.=,ENST00000535350,;FOXM1,non_coding_transcript_exon_variant,,ENST00000537018,;FOXM1,3_prime_UTR_variant,,ENST00000538564,;FOXM1,upstream_gene_variant,,ENST00000536066,;FOXM1,downstream_gene_variant,,ENST00000545049,;FOXM1,upstream_gene_variant,,ENST00000366362,;	uc001qlf.2	c.876C>T	945/3315	2	2			c.876C>T						12	SNP	c.(874-876)CAC>CAT	22	22			central_nervous_system(1)|skin(1)	2	Broad	forkhead box M1 isoform 2			2975658		0.502	ENSG00000111206	5912	g.chr12:2975658G>A	cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding							83.15655	KEEP	20	23	-1	20	56	20	23	-1	84.592603	20	56	0.358025	1	0	0	0	0	0	0	1	0	--	--		0	A			FOXM1_uc001qle.2_Silent_p.H292H|FOXM1_uc001qlg.2_Silent_p.H292H|FOXM1_uc009zea.2_Silent_p.H291H|FOXM1_uc009zeb.2_Silent_p.H291H	205	GBM-27-2528-TP	p.H292H	G	CAAACATGTCGTGCAGGGAAA	NM_021953	NP_068772	2975658	Q08050	FOXM1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		5	1141	-	A	A			Silent	292			Fork-head.			
FOXN1	8456	broad.mit.edu	GRCh37	17	26861357	26861357	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0173-01	TCGA-06-0173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000226247.2:c.936C>T	p.Pro312=	p.P312=	ENST00000226247	NM_003593.2	312	ccC/ccT	0			1			T	P	uc010crm.2	protein_coding	YES	CCDS11232.1			936/1947									skin(1)	1	c.(934-936)CCC>CCT			Gene3D:1.10.10.10,Pfam_domain:PF00250,PROSITE_profiles:PS50039,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF71,SMART_domains:SM00339,Superfamily_domains:SSF46785	forkhead box N1				ENSP00000226247		8-Jun	4.12E-05	9.62E-05	8.64E-05			4.50E-05			rs767538384,COSM2150400	8-Jun	.		ENST00000226247	Transcript	1		defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	ENSG00000109101	g.chr17:26861357C>T	12765			LOW								--	--	1																																		FOXN1_uc002hbj.2_Silent_p.P312P	0,1	1			p.P312P	NM_003593	NP_003584			0,1	FOXN1_HUMAN	FOXN1	HGNC	O15353	FOXN1_HUMAN			J3KRT9_HUMAN		7	1134	+	Lung NSC(42;0.00431)		UPI000012ADE6	312			Fork-head.		SNV	FOXN1,synonymous_variant,p.=,ENST00000226247,NM_003593.2;FOXN1,synonymous_variant,p.=,ENST00000579795,;RP11-192H23.4,intron_variant,,ENST00000481916,;	uc010crm.2	c.936C>T	965/3436	1	1			c.936C>T						17	SNP	c.(934-936)CCC>CCT	9	9			skin(1)	1	Broad	forkhead box N1			26861357		0.552	ENSG00000109101	5913	g.chr17:26861357C>T	defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding							80.455174	KEEP	23	13	-1	57	64	23	13	-1	89.690089	57	64	0.227941	1	0	0	0	0	0	0	1	0	--	--		0	T			FOXN1_uc002hbj.2_Silent_p.P312P	36	GBM-06-0173-TP	p.P312P	C	AGACAGCACCCGATGGCTGGA	NM_003593	NP_003584	26861357	O15353	FOXN1_HUMAN	0			7	1134	+	T	T	Lung NSC(42;0.00431)		Silent	312			Fork-head.			
FOXN1	0	broad.mit.edu	GRCh37	17	26851529	26851529	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6701-01	TCGA-06-6701-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000226247.2:c.132C>T	p.Ala44=	p.A44=	ENST00000226247	NM_003593.2	44	gcC/gcT	0			1			T	A	uc010crm.2	protein_coding	YES	CCDS11232.1			132/1947									skin(1)	1	c.(130-132)GCC>GCT			hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF71	forkhead box N1				ENSP00000226247		8-Feb									COSM3402689	8-Feb	.		ENST00000226247	Transcript	1		defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	ENSG00000109101	g.chr17:26851529C>T	12765			LOW								--	--	1																																		FOXN1_uc002hbj.2_Silent_p.A44A	1	1			p.A44A	NM_003593	NP_003584			1	FOXN1_HUMAN	FOXN1	HGNC	O15353	FOXN1_HUMAN			J3KRT9_HUMAN		3	330	+	Lung NSC(42;0.00431)		UPI000012ADE6	44					SNV	FOXN1,synonymous_variant,p.=,ENST00000226247,NM_003593.2;FOXN1,synonymous_variant,p.=,ENST00000579795,;FOXN1,synonymous_variant,p.=,ENST00000577936,;RP11-192H23.4,intron_variant,,ENST00000481916,;	uc010crm.2	c.132C>T	161/3436	2	2			c.132C>T						17	SNP	c.(130-132)GCC>GCT	35	35			skin(1)	1	Broad	forkhead box N1			26851529		0.637	ENSG00000109101	5913	g.chr17:26851529C>T	defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding							10.382755	KEEP	4	9	-1	59	54	4	9	-1	26.662596	59	54	0.104762	1	0	0	0	0	0	0	1	0	--	--		0	T			FOXN1_uc002hbj.2_Silent_p.A44A	115	GBM-06-6701-TP	p.A44A	C	AGAAGCATGCCGGCTTCAGCT	NM_003593	NP_003584	26851529	O15353	FOXN1_HUMAN	0			3	330	+	T	T	Lung NSC(42;0.00431)		Silent	44						
FOXN1	0	broad.mit.edu	GRCh37	17	26862064	26862064	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-14-1823-01	TCGA-14-1823-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000226247.2:c.1475C>G	p.Pro492Arg	p.P492R	ENST00000226247	NM_003593.2	492	cCt/cGt	0			1			G	P/R	uc010crm.2	protein_coding	YES	CCDS11232.1			1475/1947									skin(1)	1	c.(1474-1476)CCT>CGT			hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF71	forkhead box N1				ENSP00000226247		8-Jul									COSM3402690	8-Jul	.		ENST00000226247	Transcript	1		defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	ENSG00000109101	g.chr17:26862064C>G	12765			MODERATE		2.275	medium	getma.org/?cm=msa&ty=f&p=FOXN1_HUMAN&rb=401&re=647&var=P492R	NA	getma.org/?cm=var&var=hg19,17,26862064,C,G&fts=all	P492R	--	--	1																																		FOXN1_uc002hbj.2_Missense_Mutation_p.P492R	1	1		probably_damaging(0.999)	p.P492R	NM_003593	NP_003584		deleterious(0.01)	1	FOXN1_HUMAN	FOXN1	HGNC	O15353	FOXN1_HUMAN			J3KRT9_HUMAN		8	1673	+	Lung NSC(42;0.00431)		UPI000012ADE6	492					SNV	FOXN1,missense_variant,p.Pro492Arg,ENST00000226247,NM_003593.2;FOXN1,missense_variant,p.Pro492Arg,ENST00000579795,;RP11-192H23.4,intron_variant,,ENST00000481916,;	uc010crm.2	c.1475C>G	1504/3436	3	3			c.1475C>G						17	SNP	c.(1474-1476)CCT>CGT	55	55			skin(1)	1	Broad	forkhead box N1			26862064		0.687	ENSG00000109101	5913	g.chr17:26862064C>G	defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding							1.701509	KEEP	2	4	-1	28	32	2	4	-1	11.578711	28	32	0.098361	1	0	0	0	0	1	0	0	0	--	--		0	G			FOXN1_uc002hbj.2_Missense_Mutation_p.P492R	147	GBM-14-1823-TP	p.P492R	C	CAGGACTCGCCTCTGCCTGCC	NM_003593	NP_003584	26862064	O15353	FOXN1_HUMAN	0			8	1673	+	G	G	Lung NSC(42;0.00431)		Missense_Mutation	492						
FOXN1	0	broad.mit.edu	GRCh37	17	26864328	26864328	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-28-5214-01	TCGA-28-5214-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000226247.2:c.1821A>C	p.Ala607=	p.A607=	ENST00000226247	NM_003593.2	607	gcA/gcC	0			1			C	A	uc010crm.2	protein_coding	YES	CCDS11232.1			1821/1947									skin(1)	1	c.(1819-1821)GCA>GCC			hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF71,Low_complexity_(Seg):seg	forkhead box N1				ENSP00000226247		8-Aug									COSM3748010	8-Aug	.		ENST00000226247	Transcript	1		defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	ENSG00000109101	g.chr17:26864328A>C	12765			LOW								--	--	1																																		FOXN1_uc002hbj.2_Silent_p.A607A	1	1			p.A607A	NM_003593	NP_003584			1	FOXN1_HUMAN	FOXN1	HGNC	O15353	FOXN1_HUMAN			J3KRT9_HUMAN		9	2019	+	Lung NSC(42;0.00431)		UPI000012ADE6	607					SNV	FOXN1,synonymous_variant,p.=,ENST00000226247,NM_003593.2;FOXN1,synonymous_variant,p.=,ENST00000579795,;RP11-192H23.4,intron_variant,,ENST00000481916,;	uc010crm.2	c.1821A>C	1850/3436	4	4			c.1821A>C						17	SNP	c.(1819-1821)GCA>GCC	35	35			skin(1)	1	Broad	forkhead box N1			26864328		0.687	ENSG00000109101	5913	g.chr17:26864328A>C	defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding							79.283714	KEEP	17	7	-1	28	24	17	7	-1	80.808495	28	24	0.342857	1	0	0	0	0	0	0	1	0	--	--		0	C			FOXN1_uc002hbj.2_Silent_p.A607A	221	GBM-28-5214-TP	p.A607A	A	GCTCCGGGGCACTGGGTGACC	NM_003593	NP_003584	26864328	O15353	FOXN1_HUMAN	0			9	2019	+	C	C	Lung NSC(42;0.00431)		Silent	607						
FOXN1	8456		GRCh37	17	26864216	26864216	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000226247.2:c.1709C>T	p.Ser570Leu	p.S570L	ENST00000226247	NM_003593.2	570	tCg/tTg	0																																																																																																																																																																																																																																												
FOXN3	0	broad.mit.edu	GRCh37	14	89647054	89647054	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01	TCGA-26-5135-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261302.5:c.908C>T	p.Ala303Val	p.A303V	ENST00000261302		303	gCg/gTg	0			1			A	A/V	uc001xxo.3	protein_coding		CCDS41977.1			908/1473									skin(2)|ovary(1)	3	c.(907-909)GCG>GTG			hmmpanther:PTHR13962,hmmpanther:PTHR13962:SF12	checkpoint suppressor 1 isoform 1				ENSP00000261302		6-May	5.77E-05	0.000128	0.000203			3.65E-05		0.000152	rs761828615,COSM2157036,COSM2157035	6-May	.		ENST00000261302	Transcript			DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	ENSG00000053254	g.chr14:89647054G>A	1928			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=FOXN3_HUMAN&rb=272&re=488&var=A303V	NA	getma.org/?cm=var&var=hg19,14,89647054,G,A&fts=all	A303V	--	--	1																																		FOXN3_uc001xxn.3_Missense_Mutation_p.A281V|FOXN3_uc010atk.2_Missense_Mutation_p.A281V	0,1,1			benign(0.007)	p.A303V	NM_001085471	NP_001078940		tolerated(0.24)	0,1,1	FOXN3_HUMAN	FOXN3	HGNC	O00409	FOXN3_HUMAN			G3V5C7_HUMAN,G3V4N5_HUMAN,G3V3A7_HUMAN		6	1045	-			UPI000003B451	303					SNV	FOXN3,missense_variant,p.Ala303Val,ENST00000345097,NM_001085471.1;FOXN3,missense_variant,p.Ala303Val,ENST00000261302,;FOXN3,missense_variant,p.Ala281Val,ENST00000557258,NM_005197.3;FOXN3,missense_variant,p.Ala281Val,ENST00000555353,;FOXN3,missense_variant,p.Ala152Val,ENST00000553840,;FOXN3,missense_variant,p.Ala12Val,ENST00000557572,;FOXN3,downstream_gene_variant,,ENST00000556541,;FOXN3,downstream_gene_variant,,ENST00000555010,;FOXN3,downstream_gene_variant,,ENST00000557496,;FOXN3,downstream_gene_variant,,ENST00000557718,;	uc001xxo.3	c.908C>T	924/7718	1	1			c.908C>T						14	SNP	c.(907-909)GCG>GTG	55	55			skin(2)|ovary(1)	3	Broad	checkpoint suppressor 1 isoform 1			89647054		0.637	ENSG00000053254	5915	g.chr14:89647054G>A	DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding							45.222515	KEEP	8	13	-1	10	14	8	13	-1	45.249672	10	14	0.46875	1	0	0	0	0	1	0	0	0	--	--		0	A			FOXN3_uc001xxn.3_Missense_Mutation_p.A281V|FOXN3_uc010atk.2_Missense_Mutation_p.A281V	184	GBM-26-5135-TP	p.A303V	G	CCTCATGGCCGCTGTCACCCC	NM_001085471	NP_001078940	89647054	O00409	FOXN3_HUMAN	0			6	1045	-	A	A			Missense_Mutation	303						
FOXN4	121643	broad.mit.edu	GRCh37	12	109719238	109719238	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0132-01	TCGA-06-0132-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299162.5:c.1268C>T	p.Pro423Leu	p.P423L	ENST00000299162	NM_213596.2	423	cCg/cTg	0			1			A	P/L	uc001toe.3	protein_coding	YES	CCDS9126.2			1268/1554									ovary(1)|lung(1)	2	c.(1267-1269)CCG>CTG			hmmpanther:PTHR13962,hmmpanther:PTHR13962:SF8	forkhead box N4				ENSP00000299162		10-Sep	1.65E-05							0.000121	rs770392574,COSM3398322,COSM3398321	10-Sep	.		ENST00000299162	Transcript			axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	ENSG00000139445	g.chr12:109719238G>A	21399			MODERATE		2.495	medium	getma.org/?cm=msa&ty=f&p=FOXN4_HUMAN&rb=303&re=515&var=P423L	NA	getma.org/?cm=var&var=hg19,12,109719238,G,A&fts=all	P423L	--	--	1																																		FOXN4_uc009zvg.2_Missense_Mutation_p.P220L|FOXN4_uc001tof.3_Missense_Mutation_p.P243L	0,1,1	1		probably_damaging(0.998)	p.P423L	NM_213596	NP_998761		deleterious(0)	0,1,1	FOXN4_HUMAN	FOXN4	HGNC	Q96NZ1	FOXN4_HUMAN					9	1373	-			UPI0000551BEE	423					SNV	FOXN4,missense_variant,p.Pro423Leu,ENST00000299162,NM_213596.2;FOXN4,missense_variant,p.Pro243Leu,ENST00000355216,;FOXN4,intron_variant,,ENST00000468516,;FOXN4,3_prime_UTR_variant,,ENST00000423960,;	uc001toe.3	c.1268C>T	1373/3350	2	2			c.1268C>T						12	SNP	c.(1267-1269)CCG>CTG	41	41			ovary(1)|lung(1)	2	Broad	forkhead box N4			109719238		0.627	ENSG00000139445	5916	g.chr12:109719238G>A	axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding							16.332064	KEEP	11	7	-1	68	71	11	7	-1	35.028528	68	71	0.116279	1	0	0	0	0	1	0	0	0	--	--		0	A			FOXN4_uc009zvg.2_Missense_Mutation_p.P220L|FOXN4_uc001tof.3_Missense_Mutation_p.P243L	17	GBM-06-0132-TP	p.P423L	G	CATGATGCTCGGGTCGAGGGC	NM_213596	NP_998761	109719238	Q96NZ1	FOXN4_HUMAN	0			9	1373	-	A	A			Missense_Mutation	423						
FOXN4	0	broad.mit.edu	GRCh37	12	109719317	109719317	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-28-5219-01	TCGA-28-5219-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299162.5:c.1189C>A	p.His397Asn	p.H397N	ENST00000299162	NM_213596.2	397	Cac/Aac	0	C:0	C:0	1	C:0.0014		T	H/N	uc001toe.3	protein_coding	YES	CCDS9126.2			1189/1554									ovary(1)|lung(1)	2	c.(1189-1191)CAC>AAC			hmmpanther:PTHR13962,hmmpanther:PTHR13962:SF8,Low_complexity_(Seg):seg	forkhead box N4		C:0	C:0.0002	ENSP00000299162	C:0	10-Sep	5.77E-05	9.91E-05		0.000118	0.000155	6.12E-05			rs374757575,COSM3398324,COSM3398323	10-Sep	.		ENST00000299162	Transcript		C:0.0002	axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	ENSG00000139445	g.chr12:109719317G>T	21399			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=FOXN4_HUMAN&rb=303&re=515&var=H397N	NA	getma.org/?cm=var&var=hg19,12,109719317,G,T&fts=all	H397N	--	--	1																																		FOXN4_uc009zvg.2_Missense_Mutation_p.H194N|FOXN4_uc001tof.3_Missense_Mutation_p.H217N	0,1,1	1		benign(0.002)	p.H397N	NM_213596	NP_998761	C:0	deleterious(0.02)	0,1,1	FOXN4_HUMAN	FOXN4	HGNC	Q96NZ1	FOXN4_HUMAN					9	1294	-			UPI0000551BEE	397					SNV	FOXN4,missense_variant,p.His397Asn,ENST00000299162,NM_213596.2;FOXN4,missense_variant,p.His217Asn,ENST00000355216,;FOXN4,intron_variant,,ENST00000468516,;FOXN4,3_prime_UTR_variant,,ENST00000423960,;	uc001toe.3	c.1189C>A	1294/3350	1	1			c.1189C>A						12	SNP	c.(1189-1191)CAC>AAC	10	10			ovary(1)|lung(1)	2	Broad	forkhead box N4			109719317		0.647	ENSG00000139445	5916	g.chr12:109719317G>T	axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding							65.871197	KEEP	14	12	0.538461538	25	27	14	12	0.538461538	68.031463	25	27	0.32	1	0	0	0	0	1	0	0	0	--	--		0	T			FOXN4_uc009zvg.2_Missense_Mutation_p.H194N|FOXN4_uc001tof.3_Missense_Mutation_p.H217N	225	GBM-28-5219-TP	p.H397N	G	ATGGCGGGGTGGGGGAGCGGG	NM_213596	NP_998761	109719317	Q96NZ1	FOXN4_HUMAN	0			9	1294	-	T	T			Missense_Mutation	397						
FOXO1	0	broad.mit.edu	GRCh37	13	41134348	41134348	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-12-3650-01	TCGA-12-3650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379561.5:c.1280G>T	p.Gly427Val	p.G427V	ENST00000379561	NM_002015.3	427	gGc/gTc	0			1			A	G/V	uc001uxl.3	protein_coding	YES	CCDS9371.1			1280/1968							PAX3/FOXO1(749)|PAX7/FOXO1(197)		soft_tissue(946)|lung(1)|central_nervous_system(1)	948	c.(1279-1281)GGC>GTC			hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF159	forkhead box O1				ENSP00000368880		3-Feb									COSM3399367,COSM3399368	3-Feb	.		ENST00000379561	Transcript	1		anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	ENSG00000150907	g.chr13:41134348C>A	3819			MODERATE		2.28	medium	getma.org/?cm=msa&ty=f&p=FOXO1_HUMAN&rb=269&re=468&var=G427V	NA	getma.org/?cm=var&var=hg19,13,41134348,C,A&fts=all	G427V	--	--	1																																		FOXO1_uc010acc.1_Missense_Mutation_p.G242V	1,1	1		benign(0.154)	p.G427V	NM_002015	NP_002006		deleterious(0.05)	1,1	FOXO1_HUMAN	FOXO1	HGNC	Q12778	FOXO1_HUMAN		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)			2	1665	-		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	UPI000013DC20	427					SNV	FOXO1,missense_variant,p.Gly427Val,ENST00000379561,NM_002015.3;FOXO1,downstream_gene_variant,,ENST00000473775,;	uc001uxl.3	c.1280G>T	1665/5735	1	1			c.1280G>T						13	SNP	c.(1279-1281)GGC>GTC	55	55	PAX3/FOXO1(749)|PAX7/FOXO1(197)		soft_tissue(946)|lung(1)|central_nervous_system(1)	948	Broad	forkhead box O1			41134348		0.488	ENSG00000150907	5917	g.chr13:41134348C>A	anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			55			55	-31.04322	KEEP	3	2	0.4	104	62	3	2	0.4	7.261513	104	62	0.025974	1	0	0	0	0	1	0	0	0	--	--		0	A			FOXO1_uc010acc.1_Missense_Mutation_p.G242V	126	GBM-12-3650-TP	p.G427V	C	GCTGGATTGGCCATATGTATA	NM_002015	NP_002006	41134348	Q12778	FOXO1_HUMAN	0		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)	2	1665	-	A	A		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	Missense_Mutation	427						
FOXP2	93986	broad.mit.edu	GRCh37	7	114304409	114304409	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01	TCGA-06-0214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408937.3:c.1996G>A	p.Val666Ile	p.V666I	ENST00000408937	NM_014491.3	666	Gtc/Atc	0			1			A	V/I	uc003vhb.2	protein_coding		CCDS5760.1			1921/2148									ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8	c.(1921-1923)GTC>ATC			hmmpanther:PTHR25042,hmmpanther:PTHR25042:SF12	forkhead box P2 isoform I				ENSP00000265436		16/17	8.24E-06							6.06E-05	rs745987986,COSM3411502,COSM3411501	16/17	.		ENST00000350908	Transcript	1		camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	ENSG00000128573	g.chr7:114304409G>A	13875			MODERATE		-0.695	neutral	getma.org/?cm=msa&ty=f&p=FOXP2_HUMAN&rb=594&re=715&var=V641I	NA	getma.org/?cm=var&var=hg19,7,114304409,G,A&fts=all	V641I	--	--	1																																		FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.V666I|FOXP2_uc003vha.2_Missense_Mutation_p.V549I|FOXP2_uc011kmu.1_Missense_Mutation_p.V658I|FOXP2_uc011kmv.1_Missense_Mutation_p.V640I|FOXP2_uc010ljz.1_Missense_Mutation_p.V456I	0,1,1			unknown(0)	p.V641I	NM_014491	NP_055306		tolerated(0.94)	0,1,1	FOXP2_HUMAN	FOXP2	HGNC	O15409	FOXP2_HUMAN					16	2295	+			UPI000012ADEC	641					SNV	FOXP2,missense_variant,p.Val666Ile,ENST00000408937,NM_014491.3,NM_148898.3,NM_001172766.2;FOXP2,missense_variant,p.Val658Ile,ENST00000403559,NM_148900.3;FOXP2,missense_variant,p.Val641Ile,ENST00000393494,;FOXP2,missense_variant,p.Val641Ile,ENST00000350908,;FOXP2,missense_variant,p.Val620Ile,ENST00000393498,;FOXP2,missense_variant,p.Val549Ile,ENST00000393489,;FOXP2,missense_variant,p.Val456Ile,ENST00000393491,;FOXP2,3_prime_UTR_variant,,ENST00000393500,;FOXP2,3_prime_UTR_variant,,ENST00000441290,;FOXP2,3_prime_UTR_variant,,ENST00000412402,;	uc003vhb.2	c.1921G>A	2237/2638	2	2			c.1921G>A						7	SNP	c.(1921-1923)GTC>ATC	47	47			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8	Broad	forkhead box P2 isoform I			114304409		0.483	ENSG00000128573	5921	g.chr7:114304409G>A	camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding							49.92069	KEEP	15	13	-1	64	55	15	13	-1	62.262977	64	55	0.183206	1	0	0	0	0	1	0	0	0	--	--		0	A			FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.V666I|FOXP2_uc003vha.2_Missense_Mutation_p.V549I|FOXP2_uc011kmu.1_Missense_Mutation_p.V658I|FOXP2_uc011kmv.1_Missense_Mutation_p.V640I|FOXP2_uc010ljz.1_Missense_Mutation_p.V456I	50	GBM-06-0214-TP	p.V641I	G	ACTGCAGGCCGTCCACGAAGA	NM_014491	NP_055306	114304409	O15409	FOXP2_HUMAN	0			16	2295	+	A	A			Missense_Mutation	641						
FOXP2	0	broad.mit.edu	GRCh37	7	114282648	114282648	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-12-3653-01	TCGA-12-3653-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000350908.4:c.959A>G	p.Gln320Arg	p.Q320R	ENST00000350908		320	cAg/cGg	0			1			G	Q/R	uc003vhb.2	protein_coding		CCDS5760.1			959/2148									ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8	c.(958-960)CAG>CGG			hmmpanther:PTHR25042,hmmpanther:PTHR25042:SF12	forkhead box P2 isoform I				ENSP00000265436		17-Jul									COSM3411497,COSM3411498,COSM3411496	17-Jul	.		ENST00000350908	Transcript	1		camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	ENSG00000128573	g.chr7:114282648A>G	13875			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=FOXP2_HUMAN&rb=1&re=495&var=Q320R	NA	getma.org/?cm=var&var=hg19,7,114282648,A,G&fts=all	Q320R	--	--	1																																		FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.Q345R|FOXP2_uc003vha.2_Missense_Mutation_p.Q228R|FOXP2_uc011kmu.1_Missense_Mutation_p.Q337R|FOXP2_uc011kmv.1_Missense_Mutation_p.Q319R|FOXP2_uc010ljz.1_Missense_Mutation_p.Q228R|FOXP2_uc003vgx.2_Missense_Mutation_p.Q320R|FOXP2_uc003vhd.2_Missense_Mutation_p.Q320R|FOXP2_uc003vhc.2_Missense_Mutation_p.Q345R	1,1,1			unknown(0)	p.Q320R	NM_014491	NP_055306		deleterious(0.01)	1,1,1	FOXP2_HUMAN	FOXP2	HGNC	O15409	FOXP2_HUMAN					7	1333	+			UPI000012ADEC	320					SNV	FOXP2,missense_variant,p.Gln245Arg,ENST00000393500,;FOXP2,missense_variant,p.Gln345Arg,ENST00000408937,NM_014491.3,NM_148898.3,NM_001172766.2;FOXP2,missense_variant,p.Gln337Arg,ENST00000403559,NM_148900.3;FOXP2,missense_variant,p.Gln320Arg,ENST00000393494,;FOXP2,missense_variant,p.Gln320Arg,ENST00000350908,;FOXP2,missense_variant,p.Gln299Arg,ENST00000393498,;FOXP2,missense_variant,p.Gln228Arg,ENST00000393489,;FOXP2,missense_variant,p.Gln320Arg,ENST00000378237,;FOXP2,missense_variant,p.Gln228Arg,ENST00000393491,;FOXP2,missense_variant,p.Gln344Arg,ENST00000390668,NM_001172767.2;FOXP2,missense_variant,p.Gln320Arg,ENST00000360232,NM_148899.3;FOXP2,downstream_gene_variant,,ENST00000393495,;FOXP2,3_prime_UTR_variant,,ENST00000441290,;FOXP2,3_prime_UTR_variant,,ENST00000412402,;	uc003vhb.2	c.959A>G	1275/2638	3	3			c.959A>G						7	SNP	c.(958-960)CAG>CGG	13	13			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8	Broad	forkhead box P2 isoform I			114282648		0.388	ENSG00000128573	5921	g.chr7:114282648A>G	camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding							-72.884386	KEEP	1	3	-1	176	150	1	3	-1	7.60502	176	150	0.013423	1	0	0	0	0	1	0	0	0	--	--		0	G			FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.Q345R|FOXP2_uc003vha.2_Missense_Mutation_p.Q228R|FOXP2_uc011kmu.1_Missense_Mutation_p.Q337R|FOXP2_uc011kmv.1_Missense_Mutation_p.Q319R|FOXP2_uc010ljz.1_Missense_Mutation_p.Q228R|FOXP2_uc003vgx.2_Missense_Mutation_p.Q320R|FOXP2_uc003vhd.2_Missense_Mutation_p.Q320R|FOXP2_uc003vhc.2_Missense_Mutation_p.Q345R	128	GBM-12-3653-TP	p.Q320R	A	GTGAATGGACAGTCTTCAGTT	NM_014491	NP_055306	114282648	O15409	FOXP2_HUMAN	0			7	1333	+	G	G			Missense_Mutation	320						
FOXP3	0	broad.mit.edu	GRCh37	X	49113238	49113238	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-14-1823-01	TCGA-14-1823-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376207.4:c.617A>T	p.Lys206Met	p.K206M	ENST00000376207	NM_014009.3	206	aAg/aTg	0			1			A	K/M	uc004dnf.3	protein_coding	YES	CCDS14323.1			617/1296										0	c.(616-618)AAG>ATG			hmmpanther:PTHR11829:SF115,hmmpanther:PTHR11829,PROSITE_patterns:PS00028,Gene3D:3.30.160.60	forkhead box P3 isoform a				ENSP00000365380		12-Jun									COSM3406449	12-Jun	.		ENST00000376207	Transcript	1		B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding	ENSG00000049768	g.chrX:49113238T>A	6106			MODERATE		1.655	low	getma.org/?cm=msa&ty=f&p=FOXP3_HUMAN&rb=187&re=328&var=K206M	NA	getma.org/?cm=var&var=hg19,X,49113238,T,A&fts=all	K206M	--	--	1																																		FOXP3_uc011mnb.1_Missense_Mutation_p.K229M|FOXP3_uc011mnc.1_Missense_Mutation_p.K206M|FOXP3_uc004dne.3_Missense_Mutation_p.K171M|FOXP3_uc010niq.1_Missense_Mutation_p.K171M	1	1		probably_damaging(0.999)	p.K206M	NM_014009	NP_054728		tolerated(0.06)	1	FOXP3_HUMAN	FOXP3	HGNC	Q9BZS1	FOXP3_HUMAN			B7ZLG1_HUMAN		6	805	-	Ovarian(276;0.236)		UPI000012ADED	206			C2H2-type.		SNV	FOXP3,missense_variant,p.Lys206Met,ENST00000376207,NM_014009.3;FOXP3,missense_variant,p.Lys171Met,ENST00000376199,NM_001114377.1;FOXP3,missense_variant,p.Lys171Met,ENST00000557224,;FOXP3,missense_variant,p.Lys156Met,ENST00000376197,;FOXP3,missense_variant,p.Lys206Met,ENST00000455775,;FOXP3,missense_variant,p.Lys171Met,ENST00000518685,;	uc004dnf.3	c.617A>T	805/2382	2	2			c.617A>T						23	SNP	c.(616-618)AAG>ATG	47	47				0	Broad	forkhead box P3 isoform a			49113238		0.617	ENSG00000049768	5922	g.chrX:49113238T>A	B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding	GBM(182;1432 2112 16160 23073 31774)			GBM(182;1432 2112 16160 23073 31774)			-3.08436	KEEP	4	4	-1	70	36	4	4	-1	17.840364	70	36	0.072072	1	0	0	0	0	1	0	0	0	--	--		0	A			FOXP3_uc011mnb.1_Missense_Mutation_p.K229M|FOXP3_uc011mnc.1_Missense_Mutation_p.K206M|FOXP3_uc004dne.3_Missense_Mutation_p.K171M|FOXP3_uc010niq.1_Missense_Mutation_p.K171M	147	GBM-14-1823-TP	p.K206M	T	TTCGAAGACCTTCTCACATCC	NM_014009	NP_054728	49113238	Q9BZS1	FOXP3_HUMAN	0			6	805	-	A	A	Ovarian(276;0.236)		Missense_Mutation	206			C2H2-type.			
FOXP3	50943		GRCh37	X	49112252	49112252	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000376207.4:c.659C>T	p.Ala220Val	p.A220V	ENST00000376207	NM_014009.3	220	gCg/gTg	0																																																																																																																																																																																																																																												
FOXP4	116113		GRCh37	6	41545729	41545729	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000373060.1:c.210C>G	p.Leu70=	p.L70=	ENST00000373060	NM_001012426.1	70	ctC/ctG	0																																																																																																																																																																																																																																												
FOXR2	139628	broad.mit.edu	GRCh37	X	55650462	55650462	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339140.3:c.318C>T	p.Asn106=	p.N106=	ENST00000339140	NM_198451.3	106	aaC/aaT	0			1			T	N	uc004duo.2	protein_coding	YES	CCDS35308.1			318/936									lung(2)|central_nervous_system(1)	3	c.(316-318)AAC>AAT			hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF73	forkhead box R2				ENSP00000427329		1-Jan									COSM3372309	1-Jan	.		ENST00000339140	Transcript			embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	ENSG00000189299	g.chrX:55650462C>T	30469			LOW								--	--	1																																			1	1			p.N106N	NM_198451	NP_940853			1	FOXR2_HUMAN	FOXR2	HGNC	Q6PJQ5	FOXR2_HUMAN					1	630	+			UPI00001603CE	106					SNV	FOXR2,synonymous_variant,p.=,ENST00000339140,NM_198451.3;	uc004duo.2	c.318C>T	630/2789	1	1			c.318C>T						23	SNP	c.(316-318)AAC>AAT	12	12			lung(2)|central_nervous_system(1)	3	Broad	forkhead box R2			55650462		0.542	ENSG00000189299	5926	g.chrX:55650462C>T	embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding							148.207662	KEEP	15	30	-1	0	0	15	30	-1	148.207662	0	0	1	1	0	0	0	0	0	0	1	0	--	--		0	T				65	GBM-06-0743-TP	p.N106N	C	ATCTGACAAACATTTCTCCTT	NM_198451	NP_940853	55650462	Q6PJQ5	FOXR2_HUMAN	0			1	630	+	T	T			Silent	106						
FOXR2	139628	broad.mit.edu	GRCh37	X	55650496	55650496	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01	TCGA-06-0939-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339140.3:c.352G>A	p.Glu118Lys	p.E118K	ENST00000339140	NM_198451.3	118	Gaa/Aaa	0			1			A	E/K	uc004duo.2	protein_coding	YES	CCDS35308.1			352/936									lung(2)|central_nervous_system(1)	3	c.(352-354)GAA>AAA			hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF73	forkhead box R2				ENSP00000427329		1-Jan									COSM3406503	1-Jan	.		ENST00000339140	Transcript			embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	ENSG00000189299	g.chrX:55650496G>A	30469			MODERATE		1.14	low	getma.org/?cm=msa&ty=f&p=FOXR2_HUMAN&rb=1&re=191&var=E118K	NA	getma.org/?cm=var&var=hg19,X,55650496,G,A&fts=all	E118K	--	--	1																																			1	1		benign(0.142)	p.E118K	NM_198451	NP_940853		tolerated(0.14)	1	FOXR2_HUMAN	FOXR2	HGNC	Q6PJQ5	FOXR2_HUMAN					1	664	+			UPI00001603CE	118					SNV	FOXR2,missense_variant,p.Glu118Lys,ENST00000339140,NM_198451.3;	uc004duo.2	c.352G>A	664/2789	2	2			c.352G>A						23	SNP	c.(352-354)GAA>AAA	26	26			lung(2)|central_nervous_system(1)	3	Broad	forkhead box R2			55650496		0.527	ENSG00000189299	5926	g.chrX:55650496G>A	embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding							96.116919	KEEP	16	21	-1	29	43	16	21	-1	98.502315	29	43	0.336634	1	0	0	0	0	1	0	0	0	--	--		0	A				78	GBM-06-0939-TP	p.E118K	G	ACAAAAAGACGAAGGGTCTAA	NM_198451	NP_940853	55650496	Q6PJQ5	FOXR2_HUMAN	0			1	664	+	A	A			Missense_Mutation	118						
FOXR2	0	broad.mit.edu	GRCh37	X	55650313	55650313	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339140.3:c.169C>T	p.Pro57Ser	p.P57S	ENST00000339140	NM_198451.3	57	Cca/Tca	0			1			T	P/S	uc004duo.2	protein_coding	YES	CCDS35308.1			169/936									lung(2)|central_nervous_system(1)	3	c.(169-171)CCA>TCA			hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF73	forkhead box R2				ENSP00000427329		1-Jan									COSM3406501	1-Jan	.		ENST00000339140	Transcript			embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	ENSG00000189299	g.chrX:55650313C>T	30469			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=FOXR2_HUMAN&rb=1&re=191&var=P57S	NA	getma.org/?cm=var&var=hg19,X,55650313,C,T&fts=all	P57S	--	--	1																																			1	1		probably_damaging(0.979)	p.P57S	NM_198451	NP_940853		deleterious(0.04)	1	FOXR2_HUMAN	FOXR2	HGNC	Q6PJQ5	FOXR2_HUMAN					1	481	+			UPI00001603CE	57					SNV	FOXR2,missense_variant,p.Pro57Ser,ENST00000339140,NM_198451.3;	uc004duo.2	c.169C>T	481/2789	1	1			c.169C>T						23	SNP	c.(169-171)CCA>TCA	6	6			lung(2)|central_nervous_system(1)	3	Broad	forkhead box R2			55650313		0.517	ENSG00000189299	5926	g.chrX:55650313C>T	embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding							135.173908	KEEP	28	25	-1	68	60	28	25	-1	140.962671	68	60	0.297468	1	0	0	0	0	1	0	0	0	--	--		0	T				129	GBM-12-5295-TP	p.P57S	C	AATGAAGCCCCCAGAAATGCC	NM_198451	NP_940853	55650313	Q6PJQ5	FOXR2_HUMAN	0			1	481	+	T	T			Missense_Mutation	57						
FOXR2	0	broad.mit.edu	GRCh37	X	55650332	55650332	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-14-0740-01	TCGA-14-0740-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339140.3:c.188G>C	p.Arg63Thr	p.R63T	ENST00000339140	NM_198451.3	63	aGg/aCg	0			1			C	R/T	uc004duo.2	protein_coding	YES	CCDS35308.1			188/936									lung(2)|central_nervous_system(1)	3	c.(187-189)AGG>ACG			hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF73	forkhead box R2				ENSP00000427329		1-Jan									COSM3406502	1-Jan	.		ENST00000339140	Transcript			embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	ENSG00000189299	g.chrX:55650332G>C	30469			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=FOXR2_HUMAN&rb=1&re=191&var=R63T	NA	getma.org/?cm=var&var=hg19,X,55650332,G,C&fts=all	R63T	--	--	1																																			1	1		benign(0.206)	p.R63T	NM_198451	NP_940853		tolerated(0.07)	1	FOXR2_HUMAN	FOXR2	HGNC	Q6PJQ5	FOXR2_HUMAN					1	500	+			UPI00001603CE	63					SNV	FOXR2,missense_variant,p.Arg63Thr,ENST00000339140,NM_198451.3;	uc004duo.2	c.188G>C	500/2789	3	3			c.188G>C						23	SNP	c.(187-189)AGG>ACG	16	16			lung(2)|central_nervous_system(1)	3	Broad	forkhead box R2			55650332		0.537	ENSG00000189299	5926	g.chrX:55650332G>C	embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding							34.289255	KEEP	6	7	-1	14	9	6	7	-1	34.82986	14	9	0.363636	1	0	0	0	0	1	0	0	0	--	--		0	C				132	GBM-14-0740-TP	p.R63T	G	CCTCAGAAGAGGAGACCCAGT	NM_198451	NP_940853	55650332	Q6PJQ5	FOXR2_HUMAN	0			1	500	+	C	C			Missense_Mutation	63						
FOXR2	0	broad.mit.edu	GRCh37	X	55650997	55650997	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1456-01	TCGA-14-1456-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339140.3:c.853C>T	p.Arg285Cys	p.R285C	ENST00000339140	NM_198451.3	285	Cgt/Tgt	0			1			T	R/C	uc004duo.2	protein_coding	YES	CCDS35308.1			853/936									lung(2)|central_nervous_system(1)	3	c.(853-855)CGT>TGT			Superfamily_domains:SSF46785,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF73,PROSITE_profiles:PS50039	forkhead box R2				ENSP00000427329		1-Jan									COSM3406505	1-Jan	.		ENST00000339140	Transcript			embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	ENSG00000189299	g.chrX:55650997C>T	30469			MODERATE		2.36	medium	getma.org/?cm=msa&ty=f&p=FOXR2_HUMAN&rb=192&re=296&var=R285C	NA	getma.org/?cm=var&var=hg19,X,55650997,C,T&fts=all	R285C	--	--	1																																			1	1		possibly_damaging(0.563)	p.R285C	NM_198451	NP_940853		deleterious(0.04)	1	FOXR2_HUMAN	FOXR2	HGNC	Q6PJQ5	FOXR2_HUMAN					1	1165	+			UPI00001603CE	285			Fork-head.		SNV	FOXR2,missense_variant,p.Arg285Cys,ENST00000339140,NM_198451.3;	uc004duo.2	c.853C>T	1165/2789	2	2			c.853C>T						23	SNP	c.(853-855)CGT>TGT	34	34			lung(2)|central_nervous_system(1)	3	Broad	forkhead box R2			55650997		0.502	ENSG00000189299	5926	g.chrX:55650997C>T	embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding							-6.456679	KEEP	2	2	-1	39	39	2	2	-1	7.955688	39	39	0.057143	1	0	0	0	0	1	0	0	0	--	--		0	T				146	GBM-14-1456-TP	p.R285C	C	GGAGGAGACTCGTGTCTTAGC	NM_198451	NP_940853	55650997	Q6PJQ5	FOXR2_HUMAN	0			1	1165	+	T	T			Missense_Mutation	285			Fork-head.			
FOXRED1	55572	broad.mit.edu	GRCh37	11	126143242	126143242	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263578.5:c.429C>T	p.Ala143=	p.A143=	ENST00000263578	NM_017547.3	143	gcC/gcT	0			1			T	A	uc001qdi.2	protein_coding	YES	CCDS8471.1			429/1461										0	c.(427-429)GCC>GCT			Superfamily_domains:SSF51905,Pfam_domain:PF01266,Gene3D:3.50.50.60,hmmpanther:PTHR13847:SF161,hmmpanther:PTHR13847	FAD-dependent oxidoreductase domain containing				ENSP00000263578		11-Apr	8.24E-06							6.07E-05	rs746956683,COSM3397529	11-Apr	.		ENST00000263578	Transcript	1			integral to membrane|mitochondrion	oxidoreductase activity|protein binding	ENSG00000110074	g.chr11:126143242C>T	26927			LOW								--	--	1																																		FOXRED1_uc010sbn.1_5'UTR|FOXRED1_uc010sbo.1_RNA|FOXRED1_uc010sbp.1_5'UTR|FOXRED1_uc010sbq.1_Missense_Mutation_p.R12C|FOXRED1_uc001qdj.2_5'UTR|FOXRED1_uc010sbr.1_Silent_p.A129A|FOXRED1_uc001qdk.2_5'UTR	0,1	1			p.A143A	NM_017547	NP_060017			0,1	FXRD1_HUMAN	FOXRED1	HGNC	Q96CU9	FXRD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)	B4DXM1_HUMAN,B4DQI0_HUMAN		4	476	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)	UPI0000037C04	143					SNV	FOXRED1,synonymous_variant,p.=,ENST00000263578,NM_017547.3;FOXRED1,synonymous_variant,p.=,ENST00000532125,;FOXRED1,5_prime_UTR_variant,,ENST00000442061,;SRPR,upstream_gene_variant,,ENST00000332118,NM_003139.3;SRPR,upstream_gene_variant,,ENST00000532259,NM_001177842.1;FOXRED1,non_coding_transcript_exon_variant,,ENST00000534011,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000526366,;FOXRED1,intron_variant,,ENST00000533839,;SRPR,upstream_gene_variant,,ENST00000530680,;FOXRED1,synonymous_variant,p.=,ENST00000527004,;FOXRED1,3_prime_UTR_variant,,ENST00000525770,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000534315,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000525083,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000532101,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000524751,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000531257,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000533395,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000527875,;FOXRED1,upstream_gene_variant,,ENST00000530642,;SRPR,upstream_gene_variant,,ENST00000528744,;FOXRED1,upstream_gene_variant,,ENST00000532590,;FOXRED1,downstream_gene_variant,,ENST00000526525,;FOXRED1,downstream_gene_variant,,ENST00000529802,;RPL35AP26,downstream_gene_variant,,ENST00000476981,;	uc001qdi.2	c.429C>T	503/1970	2	2			c.429C>T						11	SNP	c.(427-429)GCC>GCT	21	21				0	Broad	FAD-dependent oxidoreductase domain containing			126143242		0.557	ENSG00000110074	5927	g.chr11:126143242C>T		integral to membrane|mitochondrion	oxidoreductase activity|protein binding							264.906493	KEEP	32	51	-1	17	34	32	51	-1	267.028394	17	34	0.641667	1	0	0	0	0	0	0	1	0	--	--		0	T			FOXRED1_uc010sbn.1_5'UTR|FOXRED1_uc010sbo.1_RNA|FOXRED1_uc010sbp.1_5'UTR|FOXRED1_uc010sbq.1_Missense_Mutation_p.R12C|FOXRED1_uc001qdj.2_5'UTR|FOXRED1_uc010sbr.1_Silent_p.A129A|FOXRED1_uc001qdk.2_5'UTR	102	GBM-06-5858-TP	p.A143A	C	AGTACCTGGCCGTAGTCGATG	NM_017547	NP_060017	126143242	Q96CU9	FXRD1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)	4	476	+	T	T	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)	Silent	143						
FOXS1	2307	broad.mit.edu	GRCh37	20	30432906	30432906	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01	TCGA-06-0195-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375978.3:c.440C>T	p.Thr147Met	p.T147M	ENST00000375978	NM_004118.3	147	aCg/aTg	0	A:0	A:0	1	A:0		A	T/M	uc002wwt.1	protein_coding	YES	CCDS13192.1			440/993									ovary(1)	1	c.(439-441)ACG>ATG			hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF68	forkhead box S1		A:0	A:0.0001	ENSP00000365145	A:0	1-Jan	0.000379		0.000552			1.63E-05		0.00241	rs377408084,COSM3405005	1-Jan	common_variant		ENST00000375978	Transcript		A:0.0004	anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	ENSG00000179772	g.chr20:30432906G>A	3735			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=FOXS1_HUMAN&rb=114&re=176&var=T147M	NA	getma.org/?cm=var&var=hg19,20,30432906,G,A&fts=all	T147M	--	--	1																																			0,1	1		benign(0.004)	p.T147M	NM_004118	NP_004109	A:0.002	deleterious(0.05)	0,1	FOXS1_HUMAN	FOXS1	HGNC	O43638	FOXS1_HUMAN					1	515	-			UPI000003603C	147					SNV	FOXS1,missense_variant,p.Thr147Met,ENST00000375978,NM_004118.3;DUSP15,downstream_gene_variant,,ENST00000278979,;DUSP15,downstream_gene_variant,,ENST00000447647,;	uc002wwt.1	c.440C>T	515/1318	1	1			c.440C>T						20	SNP	c.(439-441)ACG>ATG	50	50			ovary(1)	1	Broad	forkhead box S1			30432906		0.687	ENSG00000179772	5929	g.chr20:30432906G>A	anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding							45.794993	KEEP	8	9	-1	9	12	8	9	-1	45.851041	9	12	0.457143	1	0	0	0	0	1	0	0	0	--	--		0	A				45	GBM-06-0195-TP	p.T147M	G	CCTGCCGGTCGTGGCGTTGGG	NM_004118	NP_004109	30432906	O43638	FOXS1_HUMAN	0			1	515	-	A	A			Missense_Mutation	147						
FPR2	0	broad.mit.edu	GRCh37	19	52272915	52272915	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340023.6:c.1004C>T	p.Thr335Met	p.T335M	ENST00000340023	NM_001005738.1	335	aCg/aTg	0			1			T	T/M	uc002pxr.2	protein_coding		CCDS12840.1			1004/1056									lung(3)|ovary(1)	4	c.(1003-1005)ACG>ATG			Gene3D:1.20.1070.10,hmmpanther:PTHR24225,hmmpanther:PTHR24225:SF16,Superfamily_domains:SSF81321	formyl peptide receptor-like 1				ENSP00000340191		2-Feb									COSM1158061	2-Feb	.		ENST00000340023	Transcript			cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	ENSG00000171049	g.chr19:52272915C>T	3827			MODERATE		2.56	medium	getma.org/?cm=msa&ty=f&p=FPR2_HUMAN&rb=303&re=351&var=T335M	NA	getma.org/?cm=var&var=hg19,19,52272915,C,T&fts=all	T335M	--	--	1																																		FPR2_uc002pxs.3_Missense_Mutation_p.T335M|FPR2_uc010epf.2_Missense_Mutation_p.T335M	1			possibly_damaging(0.878)	p.T335M	NM_001005738	NP_001005738		deleterious(0)	1	FPR2_HUMAN	FPR2	HGNC	P25090	FPR2_HUMAN			M0R222_HUMAN,M0QZ89_HUMAN,M0QXD3_HUMAN		2	1049	+			UPI00000012D0	335			Cytoplasmic (Potential).		SNV	FPR2,missense_variant,p.Thr335Met,ENST00000598776,NM_001462.3;FPR2,missense_variant,p.Thr335Met,ENST00000340023,NM_001005738.1;FPR2,missense_variant,p.Thr335Met,ENST00000598953,;FPR1,intron_variant,,ENST00000594900,;FPR2,downstream_gene_variant,,ENST00000600258,;FPR2,downstream_gene_variant,,ENST00000599326,;FPR2,downstream_gene_variant,,ENST00000600722,;	uc002pxr.2	c.1004C>T	1398/2262	2	2			c.1004C>T						19	SNP	c.(1003-1005)ACG>ATG	20	20			lung(3)|ovary(1)	4	Broad	formyl peptide receptor-like 1			52272915		0.537	ENSG00000171049	5933	g.chr19:52272915C>T	cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity							56.056039	KEEP	9	14	-1	13	19	9	14	-1	56.424719	13	19	0.408163	1	0	0	0	0	1	0	0	0	--	--		0	T			FPR2_uc002pxs.3_Missense_Mutation_p.T335M|FPR2_uc010epf.2_Missense_Mutation_p.T335M	177	GBM-19-5959-TP	p.T335M	C	ACTAATGACACGGCTGCCAAT	NM_001005738	NP_001005738	52272915	P25090	FPR2_HUMAN	0			2	1049	+	T	T			Missense_Mutation	335			Cytoplasmic (Potential).			
FPR2	2358		GRCh37	19	52272612	52272612	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000598776.1:c.701T>C	p.Ile234Thr	p.I234T	ENST00000598776	NM_001462.3	234	aTt/aCt	0																																																																																																																																																																																																																																												
FRAS1	80144	broad.mit.edu	GRCh37	4	79362349	79362349	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0145-01	TCGA-06-0145-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264895.6:c.5563C>A	p.His1855Asn	p.H1855N	ENST00000264895	NM_025074.6	1855	Cac/Aac	0			1			A	H/N	uc003hlb.2	protein_coding	YES	CCDS54771.1			5563/12039									large_intestine(5)	5	c.(5563-5565)CAC>AAC			hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878	Fraser syndrome 1				ENSP00000264895		41/74										41/74	.		ENST00000264895	Transcript	1		cell communication	integral to membrane|plasma membrane	metal ion binding	ENSG00000138759	g.chr4:79362349C>A	19185			MODERATE		0.93	low	getma.org/?cm=msa&ty=f&p=FRAS1_HUMAN&rb=1743&re=1942&var=H1854N	NA	getma.org/?cm=var&var=hg19,4,79362349,C,A&fts=all	H1854N	--	--	1																																		FRAS1_uc003hkw.2_Missense_Mutation_p.H1855N|FRAS1_uc010ijj.1_Missense_Mutation_p.H275N		1		benign(0.009)	p.H1855N	NM_025074	NP_079350				FRAS1_HUMAN	FRAS1	HGNC	Q86XX4	FRAS1_HUMAN			Q69YV4_HUMAN,Q4W596_HUMAN		41	6003	+			UPI000021D4C2	1854			CSPG 7.|Extracellular (Potential).		SNV	FRAS1,missense_variant,p.His1855Asn,ENST00000264895,NM_025074.6;FRAS1,missense_variant,p.His84Asn,ENST00000512123,;FRAS1,missense_variant,p.His1855Asn,ENST00000325942,NM_001166133.1;FRAS1,missense_variant,p.His305Asn,ENST00000510944,;	uc003hlb.2	c.5563C>A	6003/12479	1	1			c.5563C>A						4	SNP	c.(5563-5565)CAC>AAC	50	50			large_intestine(5)	5	Broad	Fraser syndrome 1			79362349		0.418	ENSG00000138759	5936	g.chr4:79362349C>A	cell communication	integral to membrane|plasma membrane	metal ion binding							67.143531	KEEP	16	11	0.407407407	17	10	16	11	0.407407407	67.216297	17	10	0.458333	1	0	0	0	0	1	0	0	0	--	--		0	A			FRAS1_uc003hkw.2_Missense_Mutation_p.H1855N|FRAS1_uc010ijj.1_Missense_Mutation_p.H275N	23	GBM-06-0145-TP	p.H1855N	C	ACTCTCATTTCACCATTTTTT	NM_025074	NP_079350	79362349	Q86XX4	FRAS1_HUMAN	0			41	6003	+	A	A			Missense_Mutation	1854			CSPG 7.|Extracellular (Potential).			
FRAS1	80144	broad.mit.edu	GRCh37	4	79399128	79399128	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264895.6:c.8011G>A	p.Glu2671Lys	p.E2671K	ENST00000264895	NM_025074.6	2671	Gag/Aag	0			1			A	E/K	uc003hlb.2	protein_coding	YES	CCDS54771.1			8011/12039									large_intestine(5)	5	c.(8011-8013)GAG>AAG			hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878,Pfam_domain:PF03160,SMART_domains:SM00237,Superfamily_domains:SSF141072	Fraser syndrome 1				ENSP00000264895		55/74	8.28E-06					1.81E-05			rs760160124,COSM3409540,COSM3409541	55/74	.		ENST00000264895	Transcript	1		cell communication	integral to membrane|plasma membrane	metal ion binding	ENSG00000138759	g.chr4:79399128G>A	19185			MODERATE		2.6	medium	getma.org/?cm=msa&ty=f&p=FRAS1_HUMAN&rb=2658&re=2769&var=E2666K	NA	getma.org/?cm=var&var=hg19,4,79399128,G,A&fts=all	E2666K	--	--	1																																			0,1,1	1		probably_damaging(0.967)	p.E2671K	NM_025074	NP_079350			0,1,1	FRAS1_HUMAN	FRAS1	HGNC	Q86XX4	FRAS1_HUMAN			Q69YV4_HUMAN,Q4W596_HUMAN		55	8451	+			UPI000021D4C2	2666			Extracellular (Potential).|Calx-beta 2.		SNV	FRAS1,missense_variant,p.Glu2671Lys,ENST00000264895,NM_025074.6;FRAS1,missense_variant,p.Glu900Lys,ENST00000512123,;	uc003hlb.2	c.8011G>A	8451/12479	1	1			c.8011G>A						4	SNP	c.(8011-8013)GAG>AAG	51	51			large_intestine(5)	5	Broad	Fraser syndrome 1			79399128		0.458	ENSG00000138759	5936	g.chr4:79399128G>A	cell communication	integral to membrane|plasma membrane	metal ion binding							5.175221	KEEP	4	2	-1	19	14	4	2	-1	9.816808	19	14	0.121212	1	0	0	0	0	1	0	0	0	--	--		0	A				46	GBM-06-0209-TP	p.E2671K	G	CAACGATACCGAGGATGAACC	NM_025074	NP_079350	79399128	Q86XX4	FRAS1_HUMAN	0			55	8451	+	A	A			Missense_Mutation	2666			Extracellular (Potential).|Calx-beta 2.			
FRAS1	80144	broad.mit.edu	GRCh37	4	79366682	79366682	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01	TCGA-06-0645-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264895.6:c.5672G>A	p.Arg1891His	p.R1891H	ENST00000264895	NM_025074.6	1891	cGt/cAt	0			1			A	R/H	uc003hlb.2	protein_coding	YES	CCDS54771.1			5672/12039									large_intestine(5)	5	c.(5671-5673)CGT>CAT			hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878	Fraser syndrome 1				ENSP00000264895		42/74	9.93E-05			0.000117		3.08E-05		0.000793	rs780066836,COSM3409533,COSM3409534,COSM3409535	42/74	common_variant		ENST00000264895	Transcript	1		cell communication	integral to membrane|plasma membrane	metal ion binding	ENSG00000138759	g.chr4:79366682G>A	19185			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=FRAS1_HUMAN&rb=1743&re=1942&var=R1890H	NA	getma.org/?cm=var&var=hg19,4,79366682,G,A&fts=all	R1890H	--	--	1																																		FRAS1_uc003hkw.2_Missense_Mutation_p.R1891H|FRAS1_uc010ijj.1_Missense_Mutation_p.R311H	0,1,1,1	1		benign(0.009)	p.R1891H	NM_025074	NP_079350			0,1,1,1	FRAS1_HUMAN	FRAS1	HGNC	Q86XX4	FRAS1_HUMAN			Q69YV4_HUMAN,Q4W596_HUMAN		42	6112	+			UPI000021D4C2	1890			CSPG 7.|Extracellular (Potential).		SNV	FRAS1,missense_variant,p.Arg1891His,ENST00000264895,NM_025074.6;FRAS1,missense_variant,p.Arg120His,ENST00000512123,;FRAS1,missense_variant,p.Arg1891His,ENST00000325942,NM_001166133.1;FRAS1,missense_variant,p.Arg341His,ENST00000510944,;FRAS1,upstream_gene_variant,,ENST00000509802,;	uc003hlb.2	c.5672G>A	6112/12479	1	1			c.5672G>A						4	SNP	c.(5671-5673)CGT>CAT	64	64			large_intestine(5)	5	Broad	Fraser syndrome 1			79366682		0.393	ENSG00000138759	5936	g.chr4:79366682G>A	cell communication	integral to membrane|plasma membrane	metal ion binding							56.55741	KEEP	12	11	-1	29	20	12	11	-1	58.493791	29	20	0.318182	1	0	0	0	0	1	0	0	0	--	--		0	A			FRAS1_uc003hkw.2_Missense_Mutation_p.R1891H|FRAS1_uc010ijj.1_Missense_Mutation_p.R311H	59	GBM-06-0645-TP	p.R1891H	G	GCAGGTGATCGTTTTGGCCCT	NM_025074	NP_079350	79366682	Q86XX4	FRAS1_HUMAN	0			42	6112	+	A	A			Missense_Mutation	1890			CSPG 7.|Extracellular (Potential).			
FRAS1	80144	broad.mit.edu	GRCh37	4	79396642	79396642	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0650-01	TCGA-06-0650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264895.6:c.7733C>T	p.Thr2578Ile	p.T2578I	ENST00000264895	NM_025074.6	2578	aCt/aTt	0			1			T	T/I	uc003hlb.2	protein_coding	YES	CCDS54771.1			7733/12039									large_intestine(5)	5	c.(7732-7734)ACT>ATT			hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878,Pfam_domain:PF03160,SMART_domains:SM00237,Superfamily_domains:SSF141072	Fraser syndrome 1				ENSP00000264895		54/74									COSM3409538,COSM3409539	54/74	.		ENST00000264895	Transcript	1		cell communication	integral to membrane|plasma membrane	metal ion binding	ENSG00000138759	g.chr4:79396642C>T	19185			MODERATE		2.17	medium	getma.org/?cm=msa&ty=f&p=FRAS1_HUMAN&rb=2545&re=2645&var=T2577I	getma.org/pdb.php?prot=FRAS1_HUMAN&from=2545&to=2645&var=T2577I	getma.org/?cm=var&var=hg19,4,79396642,C,T&fts=all	T2577I	--	--	1																																			1,1	1		benign(0.035)	p.T2578I	NM_025074	NP_079350			1,1	FRAS1_HUMAN	FRAS1	HGNC	Q86XX4	FRAS1_HUMAN			Q69YV4_HUMAN,Q4W596_HUMAN		54	8173	+			UPI000021D4C2	2577			Calx-beta 1.|Extracellular (Potential).		SNV	FRAS1,missense_variant,p.Thr2578Ile,ENST00000264895,NM_025074.6;FRAS1,missense_variant,p.Thr807Ile,ENST00000512123,;	uc003hlb.2	c.7733C>T	8173/12479	2	2			c.7733C>T						4	SNP	c.(7732-7734)ACT>ATT	35	35			large_intestine(5)	5	Broad	Fraser syndrome 1			79396642		0.542	ENSG00000138759	5936	g.chr4:79396642C>T	cell communication	integral to membrane|plasma membrane	metal ion binding							23.448386	KEEP	5	10	-1	47	55	5	10	-1	36.593909	47	55	0.141509	1	0	0	0	0	1	0	0	0	--	--		0	T				63	GBM-06-0650-TP	p.T2578I	C	GTGCAGAGGACTGGGAACCTG	NM_025074	NP_079350	79396642	Q86XX4	FRAS1_HUMAN	0			54	8173	+	T	T			Missense_Mutation	2577			Calx-beta 1.|Extracellular (Potential).			
FRAS1	80144	broad.mit.edu	GRCh37	4	79385647	79385647	+	synonymous_variant	Silent	SNP	C	C	T	rs150936204	by1000genomes	TCGA-06-0876-01	TCGA-06-0876-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264895.6:c.6939C>T	p.Pro2313=	p.P2313=	ENST00000264895	NM_025074.6	2313	ccC/ccT	0	T:0	T:0	1	T:0		T	P	uc003hlb.2	protein_coding	YES	CCDS54771.1			6939/12039									large_intestine(5)	5	c.(6937-6939)CCC>CCT			hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878	Fraser syndrome 1		T:0	T:0.0006	ENSP00000264895	T:0.001	49/74	0.00147		0.0013		0.000151	0.001	0.00223	0.00563	rs150936204,COSM3409536,COSM3409537	49/74	common_variant		ENST00000264895	Transcript	1	T:0.0010	cell communication	integral to membrane|plasma membrane	metal ion binding	ENSG00000138759	g.chr4:79385647C>T	19185			LOW								--	--	1																																			0,1,1	1			p.P2313P	NM_025074	NP_079350	T:0.0041		0,1,1	FRAS1_HUMAN	FRAS1	HGNC	Q86XX4	FRAS1_HUMAN			Q69YV4_HUMAN,Q4W596_HUMAN		49	7379	+			UPI000021D4C2	2312			CSPG 11.|Extracellular (Potential).		SNV	FRAS1,synonymous_variant,p.=,ENST00000264895,NM_025074.6;FRAS1,synonymous_variant,p.=,ENST00000512123,;	uc003hlb.2	c.6939C>T	7379/12479	1	1			c.6939C>T						4	SNP	c.(6937-6939)CCC>CCT	8	8			large_intestine(5)	5	Broad	Fraser syndrome 1			79385647		0.537	ENSG00000138759	5936	g.chr4:79385647C>T	cell communication	integral to membrane|plasma membrane	metal ion binding							143.349264	KEEP	25	25	-1	51	27	25	25	-1	144.510006	51	27	0.393162	1	0	0	0	0	0	0	1	0	--	--		0	T				72	GBM-06-0876-TP	p.P2313P	C	ATTCGCTGCCCGTCGTACAGA	NM_025074	NP_079350	79385647	Q86XX4	FRAS1_HUMAN	0			49	7379	+	T	T			Silent	2312			CSPG 11.|Extracellular (Potential).			
FRAS1	80144	broad.mit.edu	GRCh37	4	79350365	79350365	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01	TCGA-06-5859-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264895.6:c.4828G>A	p.Gly1610Ser	p.G1610S	ENST00000264895	NM_025074.6	1610	Ggc/Agc	0			1			A	G/S	uc003hlb.2	protein_coding	YES	CCDS54771.1			4828/12039									large_intestine(5)	5	c.(4828-4830)GGC>AGC			hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878	Fraser syndrome 1				ENSP00000264895		36/74									COSM3409530,COSM3409531,COSM3409532	36/74	.		ENST00000264895	Transcript	1		cell communication	integral to membrane|plasma membrane	metal ion binding	ENSG00000138759	g.chr4:79350365G>A	19185			MODERATE		2.1	medium	getma.org/?cm=msa&ty=f&p=FRAS1_HUMAN&rb=1543&re=1742&var=G1609S	NA	getma.org/?cm=var&var=hg19,4,79350365,G,A&fts=all	G1609S	--	--	1																																		FRAS1_uc003hkw.2_Missense_Mutation_p.G1610S|FRAS1_uc010ijj.1_Missense_Mutation_p.G30S	1,1,1	1		probably_damaging(0.945)	p.G1610S	NM_025074	NP_079350			1,1,1	FRAS1_HUMAN	FRAS1	HGNC	Q86XX4	FRAS1_HUMAN			Q69YV4_HUMAN,Q4W596_HUMAN		36	5268	+			UPI000021D4C2	1609			CSPG 5.|Extracellular (Potential).		SNV	FRAS1,missense_variant,p.Gly1610Ser,ENST00000264895,NM_025074.6;FRAS1,missense_variant,p.Gly1610Ser,ENST00000325942,NM_001166133.1;FRAS1,missense_variant,p.Gly60Ser,ENST00000510944,;	uc003hlb.2	c.4828G>A	5268/12479	1	1			c.4828G>A						4	SNP	c.(4828-4830)GGC>AGC	54	54			large_intestine(5)	5	Broad	Fraser syndrome 1			79350365		0.527	ENSG00000138759	5936	g.chr4:79350365G>A	cell communication	integral to membrane|plasma membrane	metal ion binding							13.86298	KEEP	4	1	-1	16	7	4	1	-1	15.364976	16	7	0.227273	1	0	0	0	0	1	0	0	0	--	--		0	A			FRAS1_uc003hkw.2_Missense_Mutation_p.G1610S|FRAS1_uc010ijj.1_Missense_Mutation_p.G30S	103	GBM-06-5859-TP	p.G1610S	G	CAGCCCAGGAGGCAGCACTTC	NM_025074	NP_079350	79350365	Q86XX4	FRAS1_HUMAN	0			36	5268	+	A	A			Missense_Mutation	1609			CSPG 5.|Extracellular (Potential).			
FRAS1	0	broad.mit.edu	GRCh37	4	79295398	79295398	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-12-5295-01	TCGA-12-5295-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264895.6:c.3144A>T	p.Lys1048Asn	p.K1048N	ENST00000264895	NM_025074.6	1048	aaA/aaT	0			1			T	K/N	uc003hlb.2	protein_coding	YES	CCDS54771.1			3144/12039									large_intestine(5)	5	c.(3142-3144)AAA>AAT			hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878,Gene3D:2.10.220.10,SMART_domains:SM00261,Superfamily_domains:SSF57184	Fraser syndrome 1				ENSP00000264895		25/74									COSM3409524,COSM3409525,COSM3409526	25/74	.		ENST00000264895	Transcript	1		cell communication	integral to membrane|plasma membrane	metal ion binding	ENSG00000138759	g.chr4:79295398A>T	19185			MODERATE		0.66	neutral	getma.org/?cm=msa&ty=f&p=FRAS1_HUMAN&rb=943&re=1142&var=K1047N	NA	getma.org/?cm=var&var=hg19,4,79295398,A,T&fts=all	K1047N	--	--	1																																		FRAS1_uc003hkw.2_Missense_Mutation_p.K1048N	1,1,1	1		benign(0.042)	p.K1048N	NM_025074	NP_079350			1,1,1	FRAS1_HUMAN	FRAS1	HGNC	Q86XX4	FRAS1_HUMAN			Q69YV4_HUMAN,Q4W596_HUMAN		25	3584	+			UPI000021D4C2	1047			FU 14.|Extracellular (Potential).		SNV	FRAS1,missense_variant,p.Lys1048Asn,ENST00000264895,NM_025074.6;FRAS1,missense_variant,p.Lys1048Asn,ENST00000325942,NM_001166133.1;MINOS1P4,upstream_gene_variant,,ENST00000515470,;	uc003hlb.2	c.3144A>T	3584/12479	2	2			c.3144A>T						4	SNP	c.(3142-3144)AAA>AAT	21	21			large_intestine(5)	5	Broad	Fraser syndrome 1			79295398		0.473	ENSG00000138759	5936	g.chr4:79295398A>T	cell communication	integral to membrane|plasma membrane	metal ion binding							112.982139	KEEP	21	24	-1	46	71	21	24	-1	118.088772	46	71	0.297101	1	0	0	0	0	1	0	0	0	--	--		0	T			FRAS1_uc003hkw.2_Missense_Mutation_p.K1048N	129	GBM-12-5295-TP	p.K1048N	A	CAAAGCACAAATGCACAGGTA	NM_025074	NP_079350	79295398	Q86XX4	FRAS1_HUMAN	0			25	3584	+	T	T			Missense_Mutation	1047			FU 14.|Extracellular (Potential).			
FRAS1	0	broad.mit.edu	GRCh37	4	79418093	79418093	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264895.6:c.9093C>A	p.Ile3031=	p.I3031=	ENST00000264895	NM_025074.6	3031	atC/atA	0			1			A	I	uc003hlb.2	protein_coding	YES	CCDS54771.1			9093/12039									large_intestine(5)	5	c.(9091-9093)ATC>ATA			hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878,Pfam_domain:PF03160,SMART_domains:SM00237,Superfamily_domains:SSF141072	Fraser syndrome 1				ENSP00000264895		60/74									COSM3409548,COSM3409549	60/74	.		ENST00000264895	Transcript	1		cell communication	integral to membrane|plasma membrane	metal ion binding	ENSG00000138759	g.chr4:79418093C>A	19185			LOW								--	--	1																																		FRAS1_uc003hlc.1_Silent_p.I33I	1,1	1			p.I3031I	NM_025074	NP_079350			1,1	FRAS1_HUMAN	FRAS1	HGNC	Q86XX4	FRAS1_HUMAN			Q69YV4_HUMAN,Q4W596_HUMAN		60	9533	+			UPI000021D4C2	3026			Calx-beta 5.|Extracellular (Potential).		SNV	FRAS1,synonymous_variant,p.=,ENST00000264895,NM_025074.6;FRAS1,synonymous_variant,p.=,ENST00000512123,;	uc003hlb.2	c.9093C>A	9533/12479	2	2			c.9093C>A						4	SNP	c.(9091-9093)ATC>ATA	21	21			large_intestine(5)	5	Broad	Fraser syndrome 1			79418093		0.408	ENSG00000138759	5936	g.chr4:79418093C>A	cell communication	integral to membrane|plasma membrane	metal ion binding							-23.419787	KEEP	4	1	0.2	60	70	4	1	0.2	7.10241	60	70	0.031496	1	0	0	0	0	0	0	1	0	--	--		0	A			FRAS1_uc003hlc.1_Silent_p.I33I	159	GBM-19-1390-TP	p.I3031I	C	TGGCCACCATCACCATATCCA	NM_025074	NP_079350	79418093	Q86XX4	FRAS1_HUMAN	0			60	9533	+	A	A			Silent	3026			Calx-beta 5.|Extracellular (Potential).			
FRAS1	0	broad.mit.edu	GRCh37	4	79447726	79447726	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-28-2509-01	TCGA-28-2509-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264895.6:c.10840C>G	p.Leu3614Val	p.L3614V	ENST00000264895	NM_025074.6	3614	Ctg/Gtg	0			1			G	L/V	uc003hlb.2	protein_coding	YES	CCDS54771.1			10840/12039									large_intestine(5)	5	c.(10840-10842)CTG>GTG			hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878	Fraser syndrome 1				ENSP00000264895		70/74									COSM3409554,COSM3409555	70/74	.		ENST00000264895	Transcript	1		cell communication	integral to membrane|plasma membrane	metal ion binding	ENSG00000138759	g.chr4:79447726C>G	19185			MODERATE		2.605	medium	getma.org/?cm=msa&ty=f&p=FRAS1_HUMAN&rb=3155&re=4005&var=L3609V	NA	getma.org/?cm=var&var=hg19,4,79447726,C,G&fts=all	L3609V	--	--	1																																			1,1	1		possibly_damaging(0.829)	p.L3614V	NM_025074	NP_079350			1,1	FRAS1_HUMAN	FRAS1	HGNC	Q86XX4	FRAS1_HUMAN			Q69YV4_HUMAN,Q4W596_HUMAN		70	11280	+			UPI000021D4C2	3609			Extracellular (Potential).		SNV	FRAS1,missense_variant,p.Leu3614Val,ENST00000264895,NM_025074.6;FRAS1,missense_variant,p.Leu1843Val,ENST00000512123,;	uc003hlb.2	c.10840C>G	11280/12479	3	3			c.10840C>G						4	SNP	c.(10840-10842)CTG>GTG	13	13			large_intestine(5)	5	Broad	Fraser syndrome 1			79447726		0.512	ENSG00000138759	5936	g.chr4:79447726C>G	cell communication	integral to membrane|plasma membrane	metal ion binding							63.135264	KEEP	10	10	-1	1	7	10	10	-1	64.383983	1	7	0.730769	1	0	0	0	0	1	0	0	0	--	--		0	G				211	GBM-28-2509-TP	p.L3614V	C	CACCATCTACCTGATCCCTTG	NM_025074	NP_079350	79447726	Q86XX4	FRAS1_HUMAN	0			70	11280	+	G	G			Missense_Mutation	3609			Extracellular (Potential).			
FRAS1	0	broad.mit.edu	GRCh37	4	79421050	79421050	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4926-01	TCGA-76-4926-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264895.6:c.9291G>A	p.Lys3097=	p.K3097=	ENST00000264895	NM_025074.6	3097	aaG/aaA	0	A:0		1			A	K	uc003hlb.2	protein_coding	YES	CCDS54771.1			9291/12039									large_intestine(5)	5	c.(9289-9291)AAG>AAA			hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878,Pfam_domain:PF03160,SMART_domains:SM00237,Superfamily_domains:SSF141072	Fraser syndrome 1			A:0.0005	ENSP00000264895		61/74	0.000778		0.000432			0.000861	0.00452	0.00184	rs376458338,COSM3409550,COSM3409551	61/74	common_variant		ENST00000264895	Transcript	1		cell communication	integral to membrane|plasma membrane	metal ion binding	ENSG00000138759	g.chr4:79421050G>A	19185			LOW								--	--	1																																		FRAS1_uc003hlc.1_Silent_p.K99K	0,1,1	1			p.K3097K	NM_025074	NP_079350			0,1,1	FRAS1_HUMAN	FRAS1	HGNC	Q86XX4	FRAS1_HUMAN			Q69YV4_HUMAN,Q4W596_HUMAN		61	9731	+			UPI000021D4C2	3092			Calx-beta 5.|Extracellular (Potential).		SNV	FRAS1,synonymous_variant,p.=,ENST00000264895,NM_025074.6;FRAS1,synonymous_variant,p.=,ENST00000512123,;	uc003hlb.2	c.9291G>A	9731/12479	1	1			c.9291G>A						4	SNP	c.(9289-9291)AAG>AAA	63	63			large_intestine(5)	5	Broad	Fraser syndrome 1			79421050		0.388	ENSG00000138759	5936	g.chr4:79421050G>A	cell communication	integral to membrane|plasma membrane	metal ion binding							130.507107	KEEP	35	36	-1	95	132	35	36	-1	147.894114	95	132	0.22619	1	0	0	0	0	0	0	1	0	--	--		0	A			FRAS1_uc003hlc.1_Silent_p.K99K	266	GBM-76-4926-TP	p.K3097K	G	ATTACCCAAAGAGCCGAGTCT	NM_025074	NP_079350	79421050	Q86XX4	FRAS1_HUMAN	0			61	9731	+	A	A			Silent	3092			Calx-beta 5.|Extracellular (Potential).			
FRAS1	0	broad.mit.edu	GRCh37	4	79343100	79343100	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01	TCGA-76-6192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264895.6:c.4624C>T	p.Arg1542Cys	p.R1542C	ENST00000264895	NM_025074.6	1542	Cgc/Tgc	0			1			T	R/C	uc003hlb.2	protein_coding	YES	CCDS54771.1			4624/12039									large_intestine(5)	5	c.(4624-4626)CGC>TGC			hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878	Fraser syndrome 1				ENSP00000264895		34/74	8.27E-06					1.50E-05			rs774652198,COSM3409527,COSM3409528,COSM3409529	34/74	.		ENST00000264895	Transcript	1		cell communication	integral to membrane|plasma membrane	metal ion binding	ENSG00000138759	g.chr4:79343100C>T	19185			MODERATE		2.39	medium	getma.org/?cm=msa&ty=f&p=FRAS1_HUMAN&rb=1343&re=1542&var=R1541C	NA	getma.org/?cm=var&var=hg19,4,79343100,C,T&fts=all	R1541C	--	--	1																																		FRAS1_uc003hkw.2_Missense_Mutation_p.R1542C|FRAS1_uc010ijj.1_Intron	0,1,1,1	1		probably_damaging(1)	p.R1542C	NM_025074	NP_079350			0,1,1,1	FRAS1_HUMAN	FRAS1	HGNC	Q86XX4	FRAS1_HUMAN			Q69YV4_HUMAN,Q4W596_HUMAN		34	5064	+			UPI000021D4C2	1541			CSPG 4.|Extracellular (Potential).		SNV	FRAS1,missense_variant,p.Arg1542Cys,ENST00000264895,NM_025074.6;FRAS1,missense_variant,p.Arg1542Cys,ENST00000325942,NM_001166133.1;FRAS1,intron_variant,,ENST00000510944,;	uc003hlb.2	c.4624C>T	5064/12479	2	2			c.4624C>T						4	SNP	c.(4624-4626)CGC>TGC	17	17			large_intestine(5)	5	Broad	Fraser syndrome 1			79343100		0.567	ENSG00000138759	5936	g.chr4:79343100C>T	cell communication	integral to membrane|plasma membrane	metal ion binding							135.692407	KEEP	18	36	-1	64	72	18	36	-1	142.894714	64	72	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	T			FRAS1_uc003hkw.2_Missense_Mutation_p.R1542C|FRAS1_uc010ijj.1_Intron	275	GBM-76-6192-TP	p.R1542C	C	AGTCATGTACCGCCCTCCCCC	NM_025074	NP_079350	79343100	Q86XX4	FRAS1_HUMAN	0			34	5064	+	T	T			Missense_Mutation	1541			CSPG 4.|Extracellular (Potential).			
FRAS1	80144		GRCh37	4	79204019	79204019	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000264895.6:c.1153C>T	p.Arg385Ter	p.R385*	ENST00000264895	NM_025074.6	385	Cga/Tga	0																																																																																																																																																																																																																																												
FRAS1	80144		GRCh37	4	79236806	79236806	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000264895.6:c.1737T>G	p.Thr579=	p.T579=	ENST00000264895	NM_025074.6	579	acT/acG	0																																																																																																																																																																																																																																												
FRAS1	80144		GRCh37	4	79400786	79400786	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000264895.6:c.8357C>T	p.Ala2786Val	p.A2786V	ENST00000264895	NM_025074.6	2786	gCg/gTg	0																																																																																																																																																																																																																																												
FRAS1	80144		GRCh37	4	79351554	79351554	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000264895.6:c.4952G>A	p.Arg1651Gln	p.R1651Q	ENST00000264895	NM_025074.6	1651	cGa/cAa	0																																																																																																																																																																																																																																												
FRAS1	80144		GRCh37	4	79400817	79400817	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000264895.6:c.8388C>T	p.Asn2796=	p.N2796=	ENST00000264895	NM_025074.6	2796	aaC/aaT	0																																																																																																																																																																																																																																												
FREM1	0	broad.mit.edu	GRCh37	9	14789086	14789086	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380880.3:c.4008C>T	p.Ser1336=	p.S1336=	ENST00000380880		1336	tcC/tcT	0			1			A	S	uc003zlm.2	protein_coding		CCDS47952.1			4008/6540									ovary(2)|breast(2)|pancreas(1)	5	c.(4006-4008)TCC>TCT			hmmpanther:PTHR11878:SF24,hmmpanther:PTHR11878	FRAS1 related extracellular matrix 1 precursor				ENSP00000370262		23/37									COSM3413516	23/37	.		ENST00000380880	Transcript	1		cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	ENSG00000164946	g.chr9:14789086G>A	23399			LOW								--	--	1																																		FREM1_uc010mic.2_Intron	1				p.S1336S	NM_144966	NP_659403			1	FREM1_HUMAN	FREM1	HGNC	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)			23	4598	-			UPI000057A218	1336			CSPG 9.		SNV	FREM1,synonymous_variant,p.=,ENST00000380881,;FREM1,synonymous_variant,p.=,ENST00000422223,NM_144966.5;FREM1,synonymous_variant,p.=,ENST00000380880,;FREM1,intron_variant,,ENST00000466679,;FREM1,upstream_gene_variant,,ENST00000485068,;FREM1,non_coding_transcript_exon_variant,,ENST00000497634,;FREM1,intron_variant,,ENST00000380875,;	uc003zlm.2	c.4008C>T	4792/7324	2	2			c.4008C>T						9	SNP	c.(4006-4008)TCC>TCT	47	47			ovary(2)|breast(2)|pancreas(1)	5	Broad	FRAS1 related extracellular matrix 1 precursor			14789086		0.493	ENSG00000164946	5937	g.chr9:14789086G>A	cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding							38.106457	KEEP	9	5	-1	12	7	9	5	-1	38.228293	12	7	0.428571	1	0	0	0	0	0	0	1	0	--	--		0	A			FREM1_uc010mic.2_Intron	129	GBM-12-5295-TP	p.S1336S	G	TCATGCCAGGGGAGAGAGGAA	NM_144966	NP_659403	14789086	Q5H8C1	FREM1_HUMAN	0		GBM - Glioblastoma multiforme(50;3.53e-06)	23	4598	-	A	A			Silent	1336			CSPG 9.			
FREM1	0	broad.mit.edu	GRCh37	9	14824887	14824887	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-14-0781-01	TCGA-14-0781-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380880.3:c.1985C>G	p.Thr662Ser	p.T662S	ENST00000380880		662	aCt/aGt	0	C:0.0003		1			C	T/S	uc003zlm.2	protein_coding		CCDS47952.1			1985/6540									ovary(2)|breast(2)|pancreas(1)	5	c.(1984-1986)ACT>AGT			hmmpanther:PTHR11878:SF24,hmmpanther:PTHR11878	FRAS1 related extracellular matrix 1 precursor			C:0	ENSP00000370262		Nov-37	8.28E-06	0.000103							rs376703044,COSM3413517	Nov-37	.		ENST00000380880	Transcript	1		cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	ENSG00000164946	g.chr9:14824887G>C	23399			MODERATE		2.195	medium	getma.org/?cm=msa&ty=f&p=FREM1_HUMAN&rb=601&re=800&var=T662S	NA	getma.org/?cm=var&var=hg19,9,14824887,G,C&fts=all	T662S	--	--	1																																		FREM1_uc010mic.2_RNA	0,1			possibly_damaging(0.893)	p.T662S	NM_144966	NP_659403		tolerated(0.05)	0,1	FREM1_HUMAN	FREM1	HGNC	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)			11	2575	-			UPI000057A218	662			CSPG 4.		SNV	FREM1,missense_variant,p.Thr663Ser,ENST00000380881,;FREM1,missense_variant,p.Thr662Ser,ENST00000422223,NM_144966.5;FREM1,missense_variant,p.Thr662Ser,ENST00000380880,;FREM1,missense_variant,p.Thr662Ser,ENST00000380875,;	uc003zlm.2	c.1985C>G	2769/7324	4	4			c.1985C>G						9	SNP	c.(1984-1986)ACT>AGT	36	36			ovary(2)|breast(2)|pancreas(1)	5	Broad	FRAS1 related extracellular matrix 1 precursor			14824887		0.428	ENSG00000164946	5937	g.chr9:14824887G>C	cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding							16.268176	KEEP	1	4	-1	4	9	1	4	-1	16.91306	4	9	0.294118	1	0	0	0	0	1	0	0	0	--	--		0	C			FREM1_uc010mic.2_RNA	133	GBM-14-0781-TP	p.T662S	G	CTGTTTCTTAGTTATATAGGC	NM_144966	NP_659403	14824887	Q5H8C1	FREM1_HUMAN	0		GBM - Glioblastoma multiforme(50;3.53e-06)	11	2575	-	C	C			Missense_Mutation	662			CSPG 4.			
FREM1	158326		GRCh37	9	14784500	14784500	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000422223.2:c.4310C>T	p.Pro1437Leu	p.P1437L	ENST00000422223	NM_144966.5	1437	cCg/cTg	0																																																																																																																																																																																																																																												
FREM2	0	broad.mit.edu	GRCh37	13	39425866	39425866	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-19-2629-01	TCGA-19-2629-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000280481.7:c.6786A>G	p.Glu2262=	p.E2262=	ENST00000280481	NM_207361.4	2262	gaA/gaG	0			1			G	E	uc001uwv.2	protein_coding	YES	CCDS31960.1			6786/9510									ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11	c.(6784-6786)GAA>GAG			hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19,Pfam_domain:PF03160,SMART_domains:SM00237,Superfamily_domains:SSF141072	FRAS1-related extracellular matrix protein 2				ENSP00000280481		24-Nov									COSM1366827	24-Nov	.		ENST00000280481	Transcript	1		cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	ENSG00000150893	g.chr13:39425866A>G	25396			LOW								--	--	1																																		FREM2_uc001uww.2_Silent_p.E348E	1	1			p.E2262E	NM_207361	NP_997244			1	FREM2_HUMAN	FREM2	HGNC	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)			11	7095	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	UPI00005520B9	2262			Extracellular (Potential).|Calx-beta 5.		SNV	FREM2,synonymous_variant,p.=,ENST00000280481,NM_207361.4;FREM2,downstream_gene_variant,,ENST00000482551,;	uc001uwv.2	c.6786A>G	7002/14876	3	3			c.6786A>G						13	SNP	c.(6784-6786)GAA>GAG	10	10			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11	Broad	FRAS1-related extracellular matrix protein 2			39425866		0.348	ENSG00000150893	5938	g.chr13:39425866A>G	cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding							60.452698	KEEP	11	12	-1	44	32	11	12	-1	67.031181	44	32	0.21978	1	0	0	0	0	0	0	1	0	--	--		0	G			FREM2_uc001uww.2_Silent_p.E348E	166	GBM-19-2629-TP	p.E2262E	A	GTGTCACTGAACCCAAAGAAC	NM_207361	NP_997244	39425866	Q5SZK8	FREM2_HUMAN	0		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	11	7095	+	G	G		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	Silent	2262			Extracellular (Potential).|Calx-beta 5.			
FRG1	0	broad.mit.edu	GRCh37	4	190876274	190876274	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-4932-01	TCGA-76-4932-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000226798.4:c.400C>A	p.Pro134Thr	p.P134T	ENST00000226798	NM_004477.2	134	Cca/Aca	0			1			A	P/T	uc003izs.2	protein_coding	YES	CCDS34121.1			400/777										0	c.(400-402)CCA>ACA			hmmpanther:PTHR12928,hmmpanther:PTHR12928:SF2,Gene3D:2.80.10.50,Pfam_domain:PF06229,Superfamily_domains:SSF50405	FSHD region gene 1				ENSP00000226798		9-May									COSM3409218	9-May	.		ENST00000226798	Transcript	1		rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		ENSG00000109536	g.chr4:190876274C>A	3954			MODERATE		1.485	low	getma.org/?cm=msa&ty=f&p=FRG1B_HUMAN&rb=15&re=181&var=P66T	getma.org/pdb.php?prot=FRG1B_HUMAN&from=15&to=181&var=P66T	getma.org/?cm=var&var=hg19,4,190876274,C,A&fts=all	P66T	--	--	1																																			1	1		benign(0.193)	p.P134T	NM_004477	NP_004468		tolerated(0.15)	1	FRG1_HUMAN	FRG1	HGNC	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	E9PRR7_HUMAN		5	591	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	UPI000012AC04	134					SNV	FRG1,missense_variant,p.Pro134Thr,ENST00000226798,NM_004477.2;FRG1,missense_variant,p.Pro71Thr,ENST00000531991,;FRG1,intron_variant,,ENST00000524583,;FRG1,non_coding_transcript_exon_variant,,ENST00000514482,;FRG1,3_prime_UTR_variant,,ENST00000533157,;	uc003izs.2	c.400C>A	622/1074	2	2			c.400C>A						4	SNP	c.(400-402)CCA>ACA	32	32				0	Broad	FSHD region gene 1			190876274		0.358	ENSG00000109536	5939	g.chr4:190876274C>A	rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus								-33.805241	KEEP	6	12	0.666666667	200	227	6	12	0.666666667	22.994906	200	227	0.043307	1	0	0	0	0	1	0	0	0	--	--		0	A				271	GBM-76-4932-TP	p.P134T	C	TGCAATTGGACCAAGAGAACA	NM_004477	NP_004468	190876274	Q14331	FRG1_HUMAN	0		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	5	591	+	A	A		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	Missense_Mutation	134						
FRG1	0	broad.mit.edu	GRCh37	4	190878609	190878609	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-81-5910-01	TCGA-81-5910-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000226798.4:c.489G>C	p.Gly163=	p.G163=	ENST00000226798	NM_004477.2	163	ggG/ggC	0			1			C	G	uc003izs.2	protein_coding	YES	CCDS34121.1			489/777										0	c.(487-489)GGG>GGC			hmmpanther:PTHR12928,hmmpanther:PTHR12928:SF2,Gene3D:2.80.10.50,Pfam_domain:PF06229,Superfamily_domains:SSF50405	FSHD region gene 1				ENSP00000226798		9-Jun									COSM3748263	9-Jun	.		ENST00000226798	Transcript	1		rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		ENSG00000109536	g.chr4:190878609G>C	3954			LOW								--	--	1																																			1	1			p.G163G	NM_004477	NP_004468			1	FRG1_HUMAN	FRG1	HGNC	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	E9PRR7_HUMAN		6	680	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	UPI000012AC04	163					SNV	FRG1,synonymous_variant,p.=,ENST00000226798,NM_004477.2;FRG1,synonymous_variant,p.=,ENST00000524583,;FRG1,synonymous_variant,p.=,ENST00000531991,;FRG1,non_coding_transcript_exon_variant,,ENST00000514482,;FRG1,upstream_gene_variant,,ENST00000505327,;FRG1,downstream_gene_variant,,ENST00000533157,;FRG1,upstream_gene_variant,,ENST00000507103,;	uc003izs.2	c.489G>C	711/1074	3	3			c.489G>C						4	SNP	c.(487-489)GGG>GGC	1	1				0	Broad	FSHD region gene 1			190878609		0.378	ENSG00000109536	5939	g.chr4:190878609G>C	rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus								-5.326916	KEEP	3	1	-1	52	78	3	1	-1	7.283135	52	78	0.050847	1	0	0	0	0	0	0	1	0	--	--		0	C				289	GBM-81-5910-TP	p.G163G	G	ATGAAGCAGGGGACATAGAAG	NM_004477	NP_004468	190878609	Q14331	FRG1_HUMAN	0		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	6	680	+	C	C		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	Silent	163						
FRG1B			GRCh37	20	29628243	29628243	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000278882.3:c.245T>C	p.Leu82Ser	p.L82S	ENST00000278882		82	tTg/tCg	0																																																																																																																																																																																																																																												
FRG1B			GRCh37	20	29628245	29628245	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000278882.3:c.247G>A	p.Ala83Thr	p.A83T	ENST00000278882		83	Gcc/Acc	0																																																																																																																																																																																																																																												
FRG1B			GRCh37	20	29625955	29625955	+	stop_gained	Nonsense_Mutation	SNP	A	A	T			TCGA-06-0165-01	TCGA-06-0165-01																				ENST00000278882.3:c.199A>T	p.Arg67Ter	p.R67*	ENST00000278882		67	Aga/Tga	0																																																																																																																																																																																																																																												
FRG1B			GRCh37	20	29628300	29628300	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000278882.3:c.302G>A	p.Ser101Asn	p.S101N	ENST00000278882		101	aGt/aAt	0																																																																																																																																																																																																																																												
FRG1B			GRCh37	20	29625885	29625885	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000278882.3:c.129A>T	p.Lys43Asn	p.K43N	ENST00000278882		43	aaA/aaT	0																																																																																																																																																																																																																																												
FRG1B			GRCh37	20	29625934	29625934	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000278882.3:c.178C>T	p.His60Tyr	p.H60Y	ENST00000278882		60	Cat/Tat	0																																																																																																																																																																																																																																												
FRG1B			GRCh37	20	29628229	29628230	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000278882.3:c.235dup	p.Met79AsnfsTer8	p.M79Nfs*8	ENST00000278882		77	-/A	0																																																																																																																																																																																																																																												
FRK	2444	broad.mit.edu	GRCh37	6	116263659	116263659	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs142072444		TCGA-06-2564-01	TCGA-06-2564-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000606080.1:c.1436C>T	p.Thr479Ile	p.T479I	ENST00000606080	NM_002031.2	479	aCa/aTa	0	A:0.0002		1			A	T/I	uc003pwi.1	protein_coding	YES	CCDS5103.1			1436/1518									ovary(3)|lung(3)	6	c.(1435-1437)ACA>ATA			Prints_domain:PR00109,Superfamily_domains:SSF56112,SMART_domains:SM00219,Pfam_domain:PF07714,Gene3D:1.10.510.10,hmmpanther:PTHR24418:SF22,hmmpanther:PTHR24418,PROSITE_profiles:PS50011	fyn-related kinase			A:0	ENSP00000476145		8-Aug	8.24E-06	9.61E-05							rs142072444,COSM2152973	8-Aug	.		ENST00000606080	Transcript			negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	ENSG00000111816	g.chr6:116263659G>A	3955			MODERATE		3.505	high	getma.org/?cm=msa&ty=f&p=FRK_HUMAN&rb=234&re=487&var=T479I	getma.org/pdb.php?prot=FRK_HUMAN&from=234&to=487&var=T479I	getma.org/?cm=var&var=hg19,6,116263659,G,A&fts=all	T479I	--	--	1																																			0,1	1		possibly_damaging(0.87)	p.T479I	NM_002031	NP_002022		deleterious(0)	0,1	FRK_HUMAN	FRK	HGNC	P42685	FRK_HUMAN		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)			8	1883	-		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)	UPI000012AC35	479			Protein kinase.		SNV	FRK,missense_variant,p.Thr479Ile,ENST00000606080,NM_002031.2;FRK,missense_variant,p.Thr337Ile,ENST00000538210,;	uc003pwi.1	c.1436C>T	1883/13230	2	2			c.1436C>T						6	SNP	c.(1435-1437)ACA>ATA	29	29			ovary(3)|lung(3)	6	Broad	fyn-related kinase			116263659		0.398	ENSG00000111816	5943	g.chr6:116263659G>A	negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			355			355	150.065058	KEEP	26	30	-1	60	55	26	30	-1	153.759063	60	55	0.339506	1	0	0	0	0	1	0	0	0	--	--		0	A				87	GBM-06-2564-TP	p.T479I	G	TGTCTCAAATGTAGGTCGTTC	NM_002031	NP_002022	116263659	P42685	FRK_HUMAN	0		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	8	1883	-	A	A		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)	Missense_Mutation	479			Protein kinase.			
FRK	0	broad.mit.edu	GRCh37	6	116265439	116265439	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-32-2638-01	TCGA-32-2638-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000606080.1:c.1108delG	p.Val370Ter	p.V370*	ENST00000606080	NM_002031.2	370	Gta/ta	0			1			-	V/X	uc003pwi.1	protein_coding	YES	CCDS5103.1			1108/1518									ovary(3)|lung(3)	6	c.(1108-1110)GTAfs			Superfamily_domains:SSF56112,SMART_domains:SM00219,Pfam_domain:PF07714,Gene3D:1.10.510.10,hmmpanther:PTHR24418:SF22,hmmpanther:PTHR24418,PROSITE_profiles:PS50011	fyn-related kinase				ENSP00000476145		8-Jun										8-Jun	.		ENST00000606080	Transcript			negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	ENSG00000111816	g.chr6:116265439delC	3955			HIGH								--	--	1																																				1			p.V370fs	NM_002031	NP_002022				FRK_HUMAN	FRK	HGNC	P42685	FRK_HUMAN		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)			6	1555	-		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)	UPI000012AC35	370			Protein kinase.		deletion	FRK,frameshift_variant,p.Val370Ter,ENST00000606080,NM_002031.2;FRK,frameshift_variant,p.Val228Ter,ENST00000538210,;	uc003pwi.1	c.1108delG	1555/13230	5	5			c.1108delG						6	DEL	c.(1108-1110)GTAfs	5	5			ovary(3)|lung(3)	6	Broad	fyn-related kinase			116265439		0.388	ENSG00000111816	5943	g.chr6:116265439delC	negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			355			355														0.36	1	1	0	1	0	0	0	0	0	--	--		0	-				242	GBM-32-2638-TP	p.V370fs	C	AAATCTGCTACTTTGTAGATA	NM_002031	NP_002022	116265439	P42685	FRK_HUMAN	0		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	6	1555	-	-	-		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)	Frame_Shift_Del	370			Protein kinase.			
FRMD3	257019	broad.mit.edu	GRCh37	9	85924522	85924522	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0219-01	TCGA-06-0219-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304195.3:c.855A>G	p.Ala285=	p.A285=	ENST00000304195	NM_001244960.1	285	gcA/gcG	0	C:0.0003		1			C	A	uc004ams.1	protein_coding	YES	CCDS43840.1			855/1794									ovary(1)|central_nervous_system(1)	2	c.(853-855)GCA>GCG			Gene3D:2.30.29.30,Pfam_domain:PF09380,PROSITE_profiles:PS50057,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF8,Superfamily_domains:SSF50729	FERM domain containing 3			C:0	ENSP00000303508		14-Oct	3.31E-05	0.000311	8.74E-05						rs374785876,COSM2150944,COSM2150945,COSM3413775	14-Oct	.		ENST00000304195	Transcript				cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	ENSG00000172159	g.chr9:85924522T>C	24125			LOW								--	--	1																																		FRMD3_uc004amr.1_Silent_p.A271A	0,1,1,1	1			p.A285A	NM_174938	NP_777598			0,1,1,1	FRMD3_HUMAN	FRMD3	HGNC	A2A2Y4	FRMD3_HUMAN					10	1057	-			UPI000066DA57	285			FERM.		SNV	FRMD3,synonymous_variant,p.=,ENST00000304195,NM_001244960.1,NM_174938.5;FRMD3,synonymous_variant,p.=,ENST00000376438,NM_001244959.1;FRMD3,synonymous_variant,p.=,ENST00000376434,NM_001244961.1;FRMD3,synonymous_variant,p.=,ENST00000431299,;	uc004ams.1	c.855A>G	1062/5297	4	4			c.855A>G						9	SNP	c.(853-855)GCA>GCG	34	34			ovary(1)|central_nervous_system(1)	2	Broad	FERM domain containing 3			85924522		0.333	ENSG00000172159	5945	g.chr9:85924522T>C		cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding							52.937499	KEEP	18	9	-1	33	33	18	9	-1	57.020528	33	33	0.2625	1	0	0	0	0	0	0	1	0	--	--		0	C			FRMD3_uc004amr.1_Silent_p.A271A	52	GBM-06-0219-TP	p.A285A	T	AAGTATGGAATGCCAACATGG	NM_174938	NP_777598	85924522	A2A2Y4	FRMD3_HUMAN	0			10	1057	-	C	C			Silent	285			FERM.			
FRMD3	0	broad.mit.edu	GRCh37	9	85958187	85958187	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-12-0616-01	TCGA-12-0616-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304195.3:c.390T>C	p.Leu130=	p.L130=	ENST00000304195	NM_001244960.1	130	ctT/ctC	0			1			G	L	uc004ams.1	protein_coding	YES	CCDS43840.1			390/1794									ovary(1)|central_nervous_system(1)	2	c.(388-390)CTT>CTC			Gene3D:1.20.80.10,Pfam_domain:PF00373,Prints_domain:PR00935,PROSITE_profiles:PS50057,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF8,SMART_domains:SM00295,Superfamily_domains:SSF47031	FERM domain containing 3				ENSP00000303508		14-May									COSM3413776,COSM3413777	14-May	.		ENST00000304195	Transcript				cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	ENSG00000172159	g.chr9:85958187A>G	24125			LOW								--	--	1																																		FRMD3_uc004amr.1_Silent_p.L116L	1,1	1			p.L130L	NM_174938	NP_777598			1,1	FRMD3_HUMAN	FRMD3	HGNC	A2A2Y4	FRMD3_HUMAN					5	592	-			UPI000066DA57	130			FERM.		SNV	FRMD3,synonymous_variant,p.=,ENST00000304195,NM_001244960.1,NM_174938.5;FRMD3,synonymous_variant,p.=,ENST00000376438,NM_001244959.1;	uc004ams.1	c.390T>C	597/5297	3	3			c.390T>C						9	SNP	c.(388-390)CTT>CTC	15	15			ovary(1)|central_nervous_system(1)	2	Broad	FERM domain containing 3			85958187		0.448	ENSG00000172159	5945	g.chr9:85958187A>G		cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding							-5.247493	KEEP	5	4	-1	67	86	5	4	-1	24.021062	67	86	0.061644	1	0	0	0	0	0	0	1	0	--	--		0	G			FRMD3_uc004amr.1_Silent_p.L116L	118	GBM-12-0616-TP	p.L130L	A	TTTTAATCTGAAGGTATAAAA	NM_174938	NP_777598	85958187	A2A2Y4	FRMD3_HUMAN	0			5	592	-	G	G			Silent	130			FERM.			
FRMD3	0	broad.mit.edu	GRCh37	9	85913683	85913683	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5952-01	TCGA-19-5952-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304195.3:c.1050G>A	p.Arg350=	p.R350=	ENST00000304195	NM_001244960.1	350	agG/agA	0			1			T	R	uc004ams.1	protein_coding	YES	CCDS43840.1			1050/1794									ovary(1)|central_nervous_system(1)	2	c.(1048-1050)AGG>AGA			Pfam_domain:PF08736,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF8,Superfamily_domains:SSF50729	FERM domain containing 3				ENSP00000303508		14-Dec									COSM2156693,COSM2156694,COSM3413774	14-Dec	.		ENST00000304195	Transcript				cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	ENSG00000172159	g.chr9:85913683C>T	24125			LOW								--	--	1																																		FRMD3_uc004amr.1_Silent_p.R336R	1,1,1	1			p.R350R	NM_174938	NP_777598			1,1,1	FRMD3_HUMAN	FRMD3	HGNC	A2A2Y4	FRMD3_HUMAN					12	1252	-			UPI000066DA57	350					SNV	FRMD3,synonymous_variant,p.=,ENST00000304195,NM_001244960.1,NM_174938.5;FRMD3,synonymous_variant,p.=,ENST00000376438,NM_001244959.1;FRMD3,synonymous_variant,p.=,ENST00000376434,NM_001244961.1;FRMD3,synonymous_variant,p.=,ENST00000431299,;	uc004ams.1	c.1050G>A	1257/5297	2	2			c.1050G>A						9	SNP	c.(1048-1050)AGG>AGA	29	29			ovary(1)|central_nervous_system(1)	2	Broad	FERM domain containing 3			85913683		0.493	ENSG00000172159	5945	g.chr9:85913683C>T		cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding							50.546116	KEEP	13	7	-1	23	31	13	7	-1	53.55739	23	31	0.269841	1	0	0	0	0	0	0	1	0	--	--		0	T			FRMD3_uc004amr.1_Silent_p.R336R	172	GBM-19-5952-TP	p.R350R	C	CAGGAGGCTCCCTCTGGATCT	NM_174938	NP_777598	85913683	A2A2Y4	FRMD3_HUMAN	0			12	1252	-	T	T			Silent	350						
FRMD5	84978	broad.mit.edu	GRCh37	15	44181021	44181021	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01	TCGA-06-0166-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000417257.1:c.778G>A	p.Val260Ile	p.V260I	ENST00000417257	NM_032892.3	260	Gta/Ata	0	G:0.0002	G:0.0023	1	G:0		T	V/I	uc001ztl.2	protein_coding	YES	CCDS10107.2			778/1713									ovary(1)	1	c.(778-780)GTA>ATA			PROSITE_profiles:PS50057,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF5,Pfam_domain:PF09380,Gene3D:2.30.29.30,Superfamily_domains:SSF50729	FERM domain containing 5 isoform 2		G:0	G:0	ENSP00000403067	G:0	14-Sep	8.24E-06					1.50E-05			rs373951833,COSM3401758	14-Sep	.		ENST00000417257	Transcript		G:0.0006		cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	ENSG00000171877	g.chr15:44181021C>T	28214			MODERATE		1.57	low	getma.org/?cm=msa&ty=f&p=FRMD5_HUMAN&rb=214&re=302&var=V260I	getma.org/pdb.php?prot=FRMD5_HUMAN&from=214&to=302&var=V260I	getma.org/?cm=var&var=hg19,15,44181021,C,T&fts=all	V260I	--	--	1																																		FRMD5_uc001ztj.1_5'UTR|FRMD5_uc001ztk.1_Splice_Site_p.Y170_splice|FRMD5_uc001ztm.2_5'UTR|FRMD5_uc001ztn.2_Missense_Mutation_p.V26I	0,1	1		benign(0.269)	p.V260I	NM_032892	NP_116281	G:0	tolerated(1)	0,1	FRMD5_HUMAN	FRMD5	HGNC	Q7Z6J6	FRMD5_HUMAN		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)	A8K1U8_HUMAN		9	955	-		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)	UPI00001A9475	260			FERM.		SNV	FRMD5,splice_donor_variant,,ENST00000484674,;FRMD5,missense_variant,p.Val260Ile,ENST00000417257,NM_032892.3;FRMD5,missense_variant,p.Val260Ile,ENST00000402883,;FRMD5,missense_variant,p.Val226Ile,ENST00000449926,;FRMD5,missense_variant,p.Val165Ile,ENST00000558108,;FRMD5,3_prime_UTR_variant,,ENST00000421674,;FRMD5,3_prime_UTR_variant,,ENST00000458630,;FRMD5,3_prime_UTR_variant,,ENST00000451277,;FRMD5,upstream_gene_variant,,ENST00000473965,;	uc001ztl.2	c.778G>A	955/5011	2	2			c.778G>A						15	SNP	c.(778-780)GTA>ATA	29	29			ovary(1)	1	Broad	FERM domain containing 5 isoform 2			44181021		0.498	ENSG00000171877	5948	g.chr15:44181021C>T		cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding							-7.512597	KEEP	9	4	-1	73	106	9	4	-1	24.066895	73	106	0.067485	1	0	0	0	0	1	0	0	0	--	--		0	T			FRMD5_uc001ztj.1_5'UTR|FRMD5_uc001ztk.1_Splice_Site_p.Y170_splice|FRMD5_uc001ztm.2_5'UTR|FRMD5_uc001ztn.2_Missense_Mutation_p.V26I	31	GBM-06-0166-TP	p.V260I	C	TTCTGACTTACGTATAAATAG	NM_032892	NP_116281	44181021	Q7Z6J6	FRMD5_HUMAN	0		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)	9	955	-	T	T		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)	Missense_Mutation	260			FERM.			
FRMD7	90167	broad.mit.edu	GRCh37	X	131214270	131214270	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298542.4:c.930G>T	p.Leu310Phe	p.L310F	ENST00000298542	NM_194277.2	310	ttG/ttT	0			1			A	L/F	uc004ewn.2	protein_coding	YES	CCDS35397.1			930/2145									skin(1)	1	c.(928-930)TTG>TTT			Pfam_domain:PF08736,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF66,Superfamily_domains:SSF50729	FERM domain containing 7				ENSP00000298542		12-Oct									COSM3748184	12-Oct	.		ENST00000298542	Transcript	1		regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	ENSG00000165694	g.chrX:131214270C>A	8079			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=FRMD7_HUMAN&rb=289&re=336&var=L310F	NA	getma.org/?cm=var&var=hg19,X,131214270,C,A&fts=all	L310F	--	--	1																																		FRMD7_uc011muy.1_Missense_Mutation_p.L295F	1	1		probably_damaging(0.999)	p.L310F	NM_194277	NP_919253		tolerated(0.06)	1	FRMD7_HUMAN	FRMD7	HGNC	Q6ZUT3	FRMD7_HUMAN					10	1108	-	Acute lymphoblastic leukemia(192;0.000127)		UPI00001C0AED	310					SNV	FRMD7,missense_variant,p.Leu310Phe,ENST00000298542,NM_194277.2;FRMD7,missense_variant,p.Leu190Phe,ENST00000370879,;FRMD7,missense_variant,p.Leu295Phe,ENST00000464296,;MST4,downstream_gene_variant,,ENST00000394334,NM_016542.3;MST4,downstream_gene_variant,,ENST00000354719,;MST4,downstream_gene_variant,,ENST00000394335,NM_001042453.1;	uc004ewn.2	c.930G>T	1106/3198	2	2			c.930G>T						23	SNP	c.(928-930)TTG>TTT	26	26			skin(1)	1	Broad	FERM domain containing 7			131214270		0.373	ENSG00000165694	5950	g.chrX:131214270C>A	regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding							-17.556183	KEEP	5	2	0.285714286	68	71	5	2	0.285714286	7.985304	68	71	0.05042	1	0	0	0	0	1	0	0	0	--	--		0	A			FRMD7_uc011muy.1_Missense_Mutation_p.L295F	62	GBM-06-0649-TP	p.L310F	C	TCCCATATTCCAAAAGTTGCC	NM_194277	NP_919253	131214270	Q6ZUT3	FRMD7_HUMAN	0			10	1108	-	A	A	Acute lymphoblastic leukemia(192;0.000127)		Missense_Mutation	310						
FRMD7	90167	broad.mit.edu	GRCh37	X	131212246	131212246	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01	TCGA-06-2565-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298542.4:c.1799G>A	p.Arg600His	p.R600H	ENST00000298542	NM_194277.2	600	cGt/cAt	0			1			T	R/H	uc004ewn.2	protein_coding	YES	CCDS35397.1			1799/2145									skin(1)	1	c.(1798-1800)CGT>CAT				FERM domain containing 7				ENSP00000298542		12-Dec	4.12E-05		0.000108	0.000151		4.17E-05			rs751994722,COSM2153018	12-Dec	.		ENST00000298542	Transcript	1		regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	ENSG00000165694	g.chrX:131212246C>T	8079			MODERATE		2.085	medium	getma.org/?cm=msa&ty=f&p=FRMD7_HUMAN&rb=364&re=712&var=R600H	NA	getma.org/?cm=var&var=hg19,X,131212246,C,T&fts=all	R600H	--	--	1																																		FRMD7_uc011muy.1_Missense_Mutation_p.R585H	0,1	1		benign(0.004)	p.R600H	NM_194277	NP_919253		tolerated(0.14)	0,1	FRMD7_HUMAN	FRMD7	HGNC	Q6ZUT3	FRMD7_HUMAN					12	1977	-	Acute lymphoblastic leukemia(192;0.000127)		UPI00001C0AED	600					SNV	FRMD7,missense_variant,p.Arg600His,ENST00000298542,NM_194277.2;FRMD7,missense_variant,p.Arg480His,ENST00000370879,;FRMD7,missense_variant,p.Arg585His,ENST00000464296,;MST4,downstream_gene_variant,,ENST00000394334,NM_016542.3;MST4,downstream_gene_variant,,ENST00000354719,;MST4,downstream_gene_variant,,ENST00000394335,NM_001042453.1;MST4,downstream_gene_variant,,ENST00000481105,;MST4,downstream_gene_variant,,ENST00000496850,NM_001042452.1;	uc004ewn.2	c.1799G>A	1975/3198	1	1			c.1799G>A						23	SNP	c.(1798-1800)CGT>CAT	11	11			skin(1)	1	Broad	FERM domain containing 7			131212246		0.428	ENSG00000165694	5950	g.chrX:131212246C>T	regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding							400.915522	KEEP	68	59	-1	13	8	68	59	-1	418.056285	13	8	0.864662	1	0	0	0	0	1	0	0	0	--	--		0	T			FRMD7_uc011muy.1_Missense_Mutation_p.R585H	88	GBM-06-2565-TP	p.R600H	C	AAAAGGAAAACGAATAGTTTT	NM_194277	NP_919253	131212246	Q6ZUT3	FRMD7_HUMAN	0			12	1977	-	T	T	Acute lymphoblastic leukemia(192;0.000127)		Missense_Mutation	600						
FRMD7	0	broad.mit.edu	GRCh37	X	131212279	131212279	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-27-2527-01	TCGA-27-2527-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298542.4:c.1766G>T	p.Arg589Met	p.R589M	ENST00000298542	NM_194277.2	589	aGg/aTg	0			1			A	R/M	uc004ewn.2	protein_coding	YES	CCDS35397.1			1766/2145									skin(1)	1	c.(1765-1767)AGG>ATG				FERM domain containing 7				ENSP00000298542		12-Dec	1.65E-05			0.000151					rs770847430,COSM456768	12-Dec	.		ENST00000298542	Transcript	1		regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	ENSG00000165694	g.chrX:131212279C>A	8079			MODERATE		2.16	medium	getma.org/?cm=msa&ty=f&p=FRMD7_HUMAN&rb=364&re=712&var=R589M	NA	getma.org/?cm=var&var=hg19,X,131212279,C,A&fts=all	R589M	--	--	1																																		FRMD7_uc011muy.1_Missense_Mutation_p.R574M	0,1	1		possibly_damaging(0.765)	p.R589M	NM_194277	NP_919253		deleterious(0)	0,1	FRMD7_HUMAN	FRMD7	HGNC	Q6ZUT3	FRMD7_HUMAN					12	1944	-	Acute lymphoblastic leukemia(192;0.000127)		UPI00001C0AED	589					SNV	FRMD7,missense_variant,p.Arg589Met,ENST00000298542,NM_194277.2;FRMD7,missense_variant,p.Arg469Met,ENST00000370879,;FRMD7,missense_variant,p.Arg574Met,ENST00000464296,;MST4,downstream_gene_variant,,ENST00000394334,NM_016542.3;MST4,downstream_gene_variant,,ENST00000354719,;MST4,downstream_gene_variant,,ENST00000394335,NM_001042453.1;MST4,downstream_gene_variant,,ENST00000481105,;MST4,downstream_gene_variant,,ENST00000496850,NM_001042452.1;	uc004ewn.2	c.1766G>T	1942/3198	2	2			c.1766G>T						23	SNP	c.(1765-1767)AGG>ATG	42	42			skin(1)	1	Broad	FERM domain containing 7			131212279		0.433	ENSG00000165694	5950	g.chrX:131212279C>A	regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding							112.992238	KEEP	25	18	0.418604651	49	52	25	18	0.418604651	117.566718	49	52	0.306569	1	0	0	0	0	1	0	0	0	--	--		0	A			FRMD7_uc011muy.1_Missense_Mutation_p.R574M	204	GBM-27-2527-TP	p.R589M	C	GCTCTGGGACCTTTTAGGGGT	NM_194277	NP_919253	131212279	Q6ZUT3	FRMD7_HUMAN	0			12	1944	-	A	A	Acute lymphoblastic leukemia(192;0.000127)		Missense_Mutation	589						
FRMD7	90167		GRCh37	X	131212955	131212955	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000298542.4:c.1090C>G	p.Gln364Glu	p.Q364E	ENST00000298542	NM_194277.2	364	Caa/Gaa	0																																																																																																																																																																																																																																												
FRMD7	90167		GRCh37	X	131216403	131216403	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000298542.4:c.893G>T	p.Ser298Ile	p.S298I	ENST00000298542	NM_194277.2	298	aGt/aTt	0																																																																																																																																																																																																																																												
FRMPD4	0	broad.mit.edu	GRCh37	X	12735884	12735884	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01	TCGA-41-3393-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380682.1:c.2939C>T	p.Pro980Leu	p.P980L	ENST00000380682	NM_014728.3	980	cCg/cTg	0			1			T	P/L	uc004cuz.1	protein_coding	YES	CCDS35201.1			2939/3969									central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13	c.(2938-2940)CCG>CTG			hmmpanther:PTHR13436,hmmpanther:PTHR13436:SF3	FERM and PDZ domain containing 4				ENSP00000370057		16/17	8.24E-06			0.000151					rs767817054,COSM3405943	16/17	.		ENST00000380682	Transcript			positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	ENSG00000169933	g.chrX:12735884C>T	29007			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=FRPD4_HUMAN&rb=536&re=1319&var=P980L	NA	getma.org/?cm=var&var=hg19,X,12735884,C,T&fts=all	P980L	--	--	1																																		FRMPD4_uc011mij.1_Missense_Mutation_p.P972L	0,1	1		benign(0.047)	p.P980L	NM_014728	NP_055543		tolerated_low_confidence(0.05)	0,1	FRPD4_HUMAN	FRMPD4	HGNC	Q14CM0	FRPD4_HUMAN					16	3445	+			UPI00001C2066	980					SNV	FRMPD4,missense_variant,p.Pro980Leu,ENST00000380682,NM_014728.3;	uc004cuz.1	c.2939C>T	3445/8465	2	2			c.2939C>T						23	SNP	c.(2938-2940)CCG>CTG	48	48			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13	Broad	FERM and PDZ domain containing 4			12735884		0.572	ENSG00000169933	5954	g.chrX:12735884C>T	positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding							188.891466	KEEP	33	44	-1	101	128	33	44	-1	203.524671	101	128	0.262238	1	0	0	0	0	1	0	0	0	--	--		0	T			FRMPD4_uc011mij.1_Missense_Mutation_p.P972L	255	GBM-41-3393-TP	p.P980L	C	ACCGACCTCCCGCCCAAAGTT	NM_014728	NP_055543	12735884	Q14CM0	FRPD4_HUMAN	0			16	3445	+	T	T			Missense_Mutation	980						
FRMPD4	9758		GRCh37	X	12516825	12516825	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000380682.1:c.68C>T	p.Pro23Leu	p.P23L	ENST00000380682	NM_014728.3	23	cCg/cTg	0																																																																																																																																																																																																																																												
FRMPD4	9758		GRCh37	X	12712508	12712508	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000380682.1:c.868G>A	p.Val290Ile	p.V290I	ENST00000380682	NM_014728.3	290	Gtc/Atc	0																																																																																																																																																																																																																																												
FRY	0	broad.mit.edu	GRCh37	13	32735289	32735289	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2619-01	TCGA-19-2619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380250.3:c.1793G>A	p.Arg598Lys	p.R598K	ENST00000380250	NM_023037.2	598	aGa/aAa	0			1			A	R/K	uc001utx.2	protein_coding	YES	CCDS41875.1			1793/9042									ovary(5)|large_intestine(1)|skin(1)	7	c.(1792-1794)AGA>AAA			Pfam_domain:PF14222,hmmpanther:PTHR12295,hmmpanther:PTHR12295:SF29	furry homolog				ENSP00000369600		17/61									COSM2156174	17/61	.		ENST00000380250	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		ENSG00000073910	g.chr13:32735289G>A	20367			MODERATE		2.695	medium	getma.org/?cm=msa&ty=f&p=FRY_HUMAN&rb=164&re=697&var=R598K	NA	getma.org/?cm=var&var=hg19,13,32735289,G,A&fts=all	R598K	--	--	1																																		FRY_uc010tdw.1_RNA	1	1		probably_damaging(0.998)	p.R598K	NM_023037	NP_075463		deleterious(0.04)	1	FRY_HUMAN	FRY	HGNC	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	Q96KW3_HUMAN,F5H4D2_HUMAN		17	2289	+		Lung SC(185;0.0271)	UPI000046FD40	598					SNV	FRY,missense_variant,p.Arg598Lys,ENST00000380250,NM_023037.2;	uc001utx.2	c.1793G>A	2289/10735	1	1			c.1793G>A						13	SNP	c.(1792-1794)AGA>AAA	63	63			ovary(5)|large_intestine(1)|skin(1)	7	Broad	furry homolog			32735289		0.299	ENSG00000073910	5958	g.chr13:32735289G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane								228.190329	KEEP	43	31	-1	43	42	43	31	-1	228.311898	43	42	0.468966	1	0	0	0	0	1	0	0	0	--	--		0	A			FRY_uc010tdw.1_RNA	161	GBM-19-2619-TP	p.R598K	G	AGGGGTGAGAGAAAGCCAAAA	NM_023037	NP_075463	32735289	Q5TBA9	FRY_HUMAN	0		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	17	2289	+	A	A		Lung SC(185;0.0271)	Missense_Mutation	598						
FRY	0	broad.mit.edu	GRCh37	13	32808846	32808846	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-4208-01	TCGA-32-4208-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380250.3:c.5663A>G	p.Asp1888Gly	p.D1888G	ENST00000380250	NM_023037.2	1888	gAc/gGc	0			1			G	D/G	uc001utx.2	protein_coding	YES	CCDS41875.1			5663/9042									ovary(5)|large_intestine(1)|skin(1)	7	c.(5662-5664)GAC>GGC			Pfam_domain:PF14228,hmmpanther:PTHR12295,hmmpanther:PTHR12295:SF29	furry homolog				ENSP00000369600		42/61									COSM3399335	42/61	.		ENST00000380250	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		ENSG00000073910	g.chr13:32808846A>G	20367			MODERATE		2.47	medium	getma.org/?cm=msa&ty=f&p=FRY_HUMAN&rb=1771&re=1906&var=D1888G	NA	getma.org/?cm=var&var=hg19,13,32808846,A,G&fts=all	D1888G	--	--	1																																		FRY_uc010tdw.1_RNA	1	1		probably_damaging(0.943)	p.D1888G	NM_023037	NP_075463		deleterious(0)	1	FRY_HUMAN	FRY	HGNC	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	Q96KW3_HUMAN,F5H4D2_HUMAN		42	6159	+		Lung SC(185;0.0271)	UPI000046FD40	1888					SNV	FRY,missense_variant,p.Asp1888Gly,ENST00000380250,NM_023037.2;	uc001utx.2	c.5663A>G	6159/10735	3	3			c.5663A>G						13	SNP	c.(5662-5664)GAC>GGC	50	50			ovary(5)|large_intestine(1)|skin(1)	7	Broad	furry homolog			32808846		0.517	ENSG00000073910	5958	g.chr13:32808846A>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane								173.330735	KEEP	15	41	-1	30	50	15	41	-1	174.344584	30	50	0.403226	1	0	0	0	0	1	0	0	0	--	--		0	G			FRY_uc010tdw.1_RNA	243	GBM-32-4208-TP	p.D1888G	A	GCCTTATCTGACCTTCTCTCA	NM_023037	NP_075463	32808846	Q5TBA9	FRY_HUMAN	0		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	42	6159	+	G	G		Lung SC(185;0.0271)	Missense_Mutation	1888						
FRYL	285527	broad.mit.edu	GRCh37	4	48503638	48503638	+	splice_donor_variant	Splice_Site	SNP	A	A	C			TCGA-06-0686-01	TCGA-06-0686-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358350.4:c.8592+2T>G		p.X2864_splice	ENST00000358350	NM_015030.1	2864		0			1			C		uc003gyh.1	protein_coding	YES	CCDS43227.1			8592/9042									skin(1)	1	c.e62+1				furry-like				ENSP00000351113											COSM3409337		.		ENST00000358350	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	ENSG00000075539	g.chr4:48503638A>C	29127			HIGH	62/63							--	--	1																																		FRYL_uc003gye.1_Splice_Site_p.E46_splice|FRYL_uc003gyf.1_Splice_Site_p.E254_splice|FRYL_uc003gyg.1_Splice_Site_p.E1554_splice	1	1			p.E2864_splice	NM_015030	NP_055845			1	FRYL_HUMAN	FRYL	HGNC	O94915	FRYL_HUMAN					62	9197	-			UPI0000EBC149						SNV	FRYL,splice_donor_variant,,ENST00000358350,NM_015030.1;FRYL,splice_donor_variant,,ENST00000537810,;FRYL,splice_donor_variant,,ENST00000264319,;FRYL,splice_donor_variant,,ENST00000503238,;FRYL,splice_donor_variant,,ENST00000507873,;FRYL,splice_donor_variant,,ENST00000512810,;FRYL,splice_donor_variant,,ENST00000503339,;	uc003gyh.1	c.8592_splice	-/11706	5	4			c.8592_splice						4	SNP	c.e62+1	37	37			skin(1)	1	Broad	furry-like			48503638		0.294	ENSG00000075539	5959	g.chr4:48503638A>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding							2.387836	KEEP	6	3	-1	66	45	6	3	-1	24.348964	66	45	0.07563	1	0	0	0	0	0	0	0	1	--	--		0	C			FRYL_uc003gye.1_Splice_Site_p.E46_splice|FRYL_uc003gyf.1_Splice_Site_p.E254_splice|FRYL_uc003gyg.1_Splice_Site_p.E1554_splice	64	GBM-06-0686-TP	p.E2864_splice	A	CTGAATATTTACCTCTGCTTC	NM_015030	NP_055845	48503638	O94915	FRYL_HUMAN	0			62	9197	-	C	C			Splice_Site							
FRYL	0	broad.mit.edu	GRCh37	4	48622786	48622786	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-12-0615-01	TCGA-12-0615-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358350.4:c.184T>G	p.Ser62Ala	p.S62A	ENST00000358350	NM_015030.1	62	Tct/Gct	0			1			C	S/A	uc003gyh.1	protein_coding	YES	CCDS43227.1			184/9042									skin(1)	1	c.(184-186)TCT>GCT			hmmpanther:PTHR12295:SF9,hmmpanther:PTHR12295	furry-like				ENSP00000351113		Jun-64									COSM2153529	Jun-64	.		ENST00000358350	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	ENSG00000075539	g.chr4:48622786A>C	29127			MODERATE		0.155	neutral	getma.org/?cm=msa&ty=f&p=FRYL_HUMAN&rb=1&re=115&var=S62A	NA	getma.org/?cm=var&var=hg19,4,48622786,A,C&fts=all	S62A	--	--	1																																		FRYL_uc003gyk.2_Missense_Mutation_p.S62A|FRYL_uc003gyl.1_Missense_Mutation_p.S113A|FRYL_uc003gym.1_Missense_Mutation_p.S62A	1	1		benign(0.345)	p.S62A	NM_015030	NP_055845		tolerated(0.8)	1	FRYL_HUMAN	FRYL	HGNC	O94915	FRYL_HUMAN					6	789	-			UPI0000EBC149	62					SNV	FRYL,missense_variant,p.Ser62Ala,ENST00000358350,NM_015030.1;FRYL,missense_variant,p.Ser62Ala,ENST00000537810,;FRYL,missense_variant,p.Ser62Ala,ENST00000503238,;FRYL,missense_variant,p.Ser62Ala,ENST00000507711,;FRYL,missense_variant,p.Ser154Ala,ENST00000505759,;FRYL,5_prime_UTR_variant,,ENST00000264319,;FRYL,non_coding_transcript_exon_variant,,ENST00000302806,;	uc003gyh.1	c.184T>G	789/11706	3	3			c.184T>G						4	SNP	c.(184-186)TCT>GCT	7	7			skin(1)	1	Broad	furry-like			48622786		0.363	ENSG00000075539	5959	g.chr4:48622786A>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding							144.613416	KEEP	24	29	-1	24	34	24	29	-1	144.750148	24	34	0.460784	1	0	0	0	0	1	0	0	0	--	--		0	C			FRYL_uc003gyk.2_Missense_Mutation_p.S62A|FRYL_uc003gyl.1_Missense_Mutation_p.S113A|FRYL_uc003gym.1_Missense_Mutation_p.S62A	117	GBM-12-0615-TP	p.S62A	A	GAGCTCATAGAGCTTATCAAC	NM_015030	NP_055845	48622786	O94915	FRYL_HUMAN	0			6	789	-	C	C			Missense_Mutation	62						
FRYL	0	broad.mit.edu	GRCh37	4	48559631	48559631	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-12-0616-01	TCGA-12-0616-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358350.4:c.3964A>C	p.Lys1322Gln	p.K1322Q	ENST00000358350	NM_015030.1	1322	Aaa/Caa	0			1			G	K/Q	uc003gyh.1	protein_coding	YES	CCDS43227.1			3964/9042									skin(1)	1	c.(3964-3966)AAA>CAA			Pfam_domain:PF14228,hmmpanther:PTHR12295:SF9,hmmpanther:PTHR12295	furry-like				ENSP00000351113		34/64									COSM3409340	34/64	.		ENST00000358350	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	ENSG00000075539	g.chr4:48559631T>G	29127			MODERATE		0.46	neutral	getma.org/?cm=msa&ty=f&p=FRYL_HUMAN&rb=1146&re=1329&var=K1322Q	NA	getma.org/?cm=var&var=hg19,4,48559631,T,G&fts=all	K1322Q	--	--	1																																		FRYL_uc003gyk.2_Missense_Mutation_p.K1322Q|FRYL_uc003gyg.1_Missense_Mutation_p.K18Q|FRYL_uc003gyi.1_Missense_Mutation_p.K211Q	1	1		possibly_damaging(0.635)	p.K1322Q	NM_015030	NP_055845		tolerated(0.29)	1	FRYL_HUMAN	FRYL	HGNC	O94915	FRYL_HUMAN					34	4569	-			UPI0000EBC149	1322					SNV	FRYL,missense_variant,p.Lys1322Gln,ENST00000358350,NM_015030.1;FRYL,missense_variant,p.Lys1322Gln,ENST00000537810,;FRYL,missense_variant,p.Lys1322Gln,ENST00000503238,;FRYL,missense_variant,p.Lys1322Gln,ENST00000507711,;FRYL,missense_variant,p.Lys193Gln,ENST00000514617,;FRYL,5_prime_UTR_variant,,ENST00000264319,;FRYL,5_prime_UTR_variant,,ENST00000507873,;	uc003gyh.1	c.3964A>C	4569/11706	3	3			c.3964A>C						4	SNP	c.(3964-3966)AAA>CAA	13	13			skin(1)	1	Broad	furry-like			48559631		0.512	ENSG00000075539	5959	g.chr4:48559631T>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding							32.318425	KEEP	17	18	-1	186	192	17	18	-1	91.707302	186	192	0.090909	1	0	0	0	0	1	0	0	0	--	--		0	G			FRYL_uc003gyk.2_Missense_Mutation_p.K1322Q|FRYL_uc003gyg.1_Missense_Mutation_p.K18Q|FRYL_uc003gyi.1_Missense_Mutation_p.K211Q	118	GBM-12-0616-TP	p.K1322Q	T	GGGAGAGGTTTTAAGTCCACC	NM_015030	NP_055845	48559631	O94915	FRYL_HUMAN	0			34	4569	-	G	G			Missense_Mutation	1322						
FRYL	0	broad.mit.edu	GRCh37	4	48621289	48621289	+	splice_donor_variant	Splice_Site	SNP	A	A	G			TCGA-15-1444-01	TCGA-15-1444-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358350.4:c.411+2T>C		p.X137_splice	ENST00000358350	NM_015030.1			0			1			G		uc003gyh.1	protein_coding	YES	CCDS43227.1			411/9042									skin(1)	1	c.e7+1				furry-like				ENSP00000351113											COSM3409343		.		ENST00000358350	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	ENSG00000075539	g.chr4:48621289A>G	29127			HIGH	Jul-63							--	--	1																																		FRYL_uc003gyk.2_Splice_Site_p.Q137_splice|FRYL_uc003gyl.1_Missense_Mutation_p.V189A	1	1			p.Q137_splice	NM_015030	NP_055845			1	FRYL_HUMAN	FRYL	HGNC	O94915	FRYL_HUMAN					7	1016	-			UPI0000EBC149						SNV	FRYL,splice_donor_variant,,ENST00000537810,;FRYL,splice_donor_variant,,ENST00000358350,NM_015030.1;FRYL,splice_donor_variant,,ENST00000264319,;FRYL,splice_donor_variant,,ENST00000503238,;FRYL,splice_donor_variant,,ENST00000507711,;FRYL,downstream_gene_variant,,ENST00000505759,;FRYL,non_coding_transcript_exon_variant,,ENST00000302806,;	uc003gyh.1	c.411_splice	-/11706	5	3			c.411_splice						4	SNP	c.e7+1	64	64			skin(1)	1	Broad	furry-like			48621289		0.363	ENSG00000075539	5959	g.chr4:48621289A>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding							23.748039	KEEP	1	10	-1	22	25	1	10	-1	28.559701	22	25	0.18	1	0	0	0	0	0	0	0	1	--	--		0	G			FRYL_uc003gyk.2_Splice_Site_p.Q137_splice|FRYL_uc003gyl.1_Missense_Mutation_p.V189A	154	GBM-15-1444-TP	p.Q137_splice	A	AAAAGAGCTTACCTGCTTTAG	NM_015030	NP_055845	48621289	O94915	FRYL_HUMAN	0			7	1016	-	G	G			Splice_Site							
FRYL	0	broad.mit.edu	GRCh37	4	48575256	48575256	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-16-0861-01	TCGA-16-0861-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358350.4:c.2851C>G	p.Leu951Val	p.L951V	ENST00000358350	NM_015030.1	951	Cta/Gta	0			1			C	L/V	uc003gyh.1	protein_coding	YES	CCDS43227.1			2851/9042									skin(1)	1	c.(2851-2853)CTA>GTA			Superfamily_domains:SSF48371,hmmpanther:PTHR12295:SF9,hmmpanther:PTHR12295	furry-like				ENSP00000351113		26/64									COSM3409342	26/64	.		ENST00000358350	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	ENSG00000075539	g.chr4:48575256G>C	29127			MODERATE		2.15	medium	getma.org/?cm=msa&ty=f&p=FRYL_HUMAN&rb=850&re=1049&var=L951V	NA	getma.org/?cm=var&var=hg19,4,48575256,G,C&fts=all	L951V	--	--	1																																		FRYL_uc003gyk.2_Missense_Mutation_p.L951V	1	1		probably_damaging(0.989)	p.L951V	NM_015030	NP_055845		deleterious(0)	1	FRYL_HUMAN	FRYL	HGNC	O94915	FRYL_HUMAN					26	3456	-			UPI0000EBC149	951					SNV	FRYL,missense_variant,p.Leu951Val,ENST00000358350,NM_015030.1;FRYL,missense_variant,p.Leu951Val,ENST00000537810,;FRYL,missense_variant,p.Leu951Val,ENST00000503238,;FRYL,missense_variant,p.Leu951Val,ENST00000507711,;FRYL,5_prime_UTR_variant,,ENST00000264319,;RNU5E-3P,downstream_gene_variant,,ENST00000515913,;FRYL,upstream_gene_variant,,ENST00000511343,;	uc003gyh.1	c.2851C>G	3456/11706	3	3			c.2851C>G						4	SNP	c.(2851-2853)CTA>GTA	62	62			skin(1)	1	Broad	furry-like			48575256		0.348	ENSG00000075539	5959	g.chr4:48575256G>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding							184.055302	KEEP	28	28	-1	43	40	28	28	-1	184.747812	43	40	0.420635	1	0	0	0	0	1	0	0	0	--	--		0	C			FRYL_uc003gyk.2_Missense_Mutation_p.L951V	156	GBM-16-0861-TP	p.L951V	G	TCCTCTATTAGTTCCCTGGAA	NM_015030	NP_055845	48575256	O94915	FRYL_HUMAN	0			26	3456	-	C	C			Missense_Mutation	951						
FRYL	0	broad.mit.edu	GRCh37	4	48559529	48559529	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-19-5955-01	TCGA-19-5955-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358350.4:c.4066T>G	p.Trp1356Gly	p.W1356G	ENST00000358350	NM_015030.1	1356	Tgg/Ggg	0			1			C	W/G	uc003gyh.1	protein_coding	YES	CCDS43227.1			4066/9042									skin(1)	1	c.(4066-4068)TGG>GGG			hmmpanther:PTHR12295:SF9,hmmpanther:PTHR12295	furry-like				ENSP00000351113		34/64	0.000637	0.000716	8.66E-05	0.000819	0.00117	0.000631	0.00113	0.000182	rs777253474,COSM225849	34/64	common_variant		ENST00000358350	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	ENSG00000075539	g.chr4:48559529A>C	29127			MODERATE		2.465	medium	getma.org/?cm=msa&ty=f&p=FRYL_HUMAN&rb=1350&re=1491&var=W1356G	NA	getma.org/?cm=var&var=hg19,4,48559529,A,C&fts=all	W1356G	--	--	1																																		FRYL_uc003gyk.2_Missense_Mutation_p.W1356G|FRYL_uc003gyg.1_Missense_Mutation_p.W52G|FRYL_uc003gyi.1_Missense_Mutation_p.W245G	0,1	1		benign(0.158)	p.W1356G	NM_015030	NP_055845		deleterious(0)	0,1	FRYL_HUMAN	FRYL	HGNC	O94915	FRYL_HUMAN					34	4671	-			UPI0000EBC149	1356					SNV	FRYL,missense_variant,p.Trp1356Gly,ENST00000537810,;FRYL,missense_variant,p.Trp1356Gly,ENST00000358350,NM_015030.1;FRYL,missense_variant,p.Trp1356Gly,ENST00000503238,;FRYL,missense_variant,p.Trp1356Gly,ENST00000507711,;FRYL,missense_variant,p.Trp227Gly,ENST00000514617,;FRYL,5_prime_UTR_variant,,ENST00000264319,;FRYL,5_prime_UTR_variant,,ENST00000507873,;	uc003gyh.1	c.4066T>G	4671/11706	3	3			c.4066T>G						4	SNP	c.(4066-4068)TGG>GGG	11	11			skin(1)	1	Broad	furry-like			48559529		0.423	ENSG00000075539	5959	g.chr4:48559529A>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding							-17.98641	KEEP	6	10	-1	60	72	6	10	-1	7.252499	60	72	0.057851	1	0	0	0	0	1	0	0	0	--	--		0	C			FRYL_uc003gyk.2_Missense_Mutation_p.W1356G|FRYL_uc003gyg.1_Missense_Mutation_p.W52G|FRYL_uc003gyi.1_Missense_Mutation_p.W245G	175	GBM-19-5955-TP	p.W1356G	A	GGAGATCCCCATCCTTCTCCC	NM_015030	NP_055845	48559529	O94915	FRYL_HUMAN	0			34	4671	-	C	C			Missense_Mutation	1356						
FRYL	0	broad.mit.edu	GRCh37	4	48536560	48536560	+	splice_donor_variant	Splice_Site	SNP	A	A	C			TCGA-32-1979-01	TCGA-32-1979-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358350.4:c.6705+2T>G		p.X2235_splice	ENST00000358350	NM_015030.1			0			1			C		uc003gyh.1	protein_coding	YES	CCDS43227.1			6705/9042									skin(1)	1	c.e49+1				furry-like				ENSP00000351113											COSM3409338		.		ENST00000358350	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	ENSG00000075539	g.chr4:48536560A>C	29127			HIGH	49/63							--	--	1																																		FRYL_uc003gyg.1_Splice_Site_p.Q931_splice|FRYL_uc003gyi.1_Splice_Site_p.Q1123_splice|FRYL_uc003gyj.1_Splice_Site_p.Q530_splice	1	1			p.Q2235_splice	NM_015030	NP_055845			1	FRYL_HUMAN	FRYL	HGNC	O94915	FRYL_HUMAN					49	7310	-			UPI0000EBC149						SNV	FRYL,splice_donor_variant,,ENST00000358350,NM_015030.1;FRYL,splice_donor_variant,,ENST00000537810,;FRYL,splice_donor_variant,,ENST00000264319,;FRYL,splice_donor_variant,,ENST00000503238,;FRYL,splice_donor_variant,,ENST00000507873,;FRYL,splice_donor_variant,,ENST00000514617,;FRYL,splice_donor_variant,,ENST00000512297,;FRYL,splice_donor_variant,,ENST00000513401,;	uc003gyh.1	c.6705_splice	-/11706	5	3			c.6705_splice						4	SNP	c.e49+1	10	10			skin(1)	1	Broad	furry-like			48536560		0.194	ENSG00000075539	5959	g.chr4:48536560A>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding							34.913631	KEEP	3	9	-1	14	11	3	9	-1	35.986995	14	11	0.314286	1	0	0	0	0	0	0	0	1	--	--		0	C			FRYL_uc003gyg.1_Splice_Site_p.Q931_splice|FRYL_uc003gyi.1_Splice_Site_p.Q1123_splice|FRYL_uc003gyj.1_Splice_Site_p.Q530_splice	230	GBM-32-1979-TP	p.Q2235_splice	A	gtggtcacTCACCTGTACATA	NM_015030	NP_055845	48536560	O94915	FRYL_HUMAN	0			49	7310	-	C	C			Splice_Site							
FRZB	0	broad.mit.edu	GRCh37	2	183703198	183703198	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01	TCGA-12-0821-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295113.4:c.736C>T	p.Pro246Ser	p.P246S	ENST00000295113	NM_001463.3	246	Cct/Tct	0			1			A	P/S	uc002upa.1	protein_coding	YES	CCDS2286.1			736/978									ovary(2)|lung(1)|central_nervous_system(1)	4	c.(736-738)CCT>TCT			PROSITE_profiles:PS50189,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF76,Pfam_domain:PF01759,Gene3D:2.40.50.120,SMART_domains:SM00643,Superfamily_domains:SSF50242	frizzled-related protein precursor				ENSP00000295113		6-Apr									rs746054842,COSM3407391	6-Apr	.		ENST00000295113	Transcript	1		brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	ENSG00000162998	g.chr2:183703198G>A	3959			MODERATE		2.265	medium	getma.org/?cm=msa&ty=f&p=SFRP3_HUMAN&rb=189&re=291&var=P246S	NA	getma.org/?cm=var&var=hg19,2,183703198,G,A&fts=all	P246S	--	--	1																																			0,1	1		probably_damaging(1)	p.P246S	NM_001463	NP_001454		deleterious(0)	0,1	SFRP3_HUMAN	FRZB	HGNC	Q92765	SFRP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)		D9ZGF6_HUMAN,Q53QT6_HUMAN,Q53QN4_HUMAN		4	954	-			UPI0000051054	246			NTR.		SNV	FRZB,missense_variant,p.Pro246Ser,ENST00000295113,NM_001463.3;	uc002upa.1	c.736C>T	1346/3162	1	1			c.736C>T						2	SNP	c.(736-738)CCT>TCT	50	50			ovary(2)|lung(1)|central_nervous_system(1)	4	Broad	frizzled-related protein precursor			183703198		0.438	ENSG00000162998	5960	g.chr2:183703198G>A	brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding							-13.872711	KEEP	10	3	-1	122	78	10	3	-1	25.018315	122	78	0.061856	1	0	0	0	0	1	0	0	0	--	--		0	A				123	GBM-12-0821-TP	p.P246S	G	TTAAGTGGAGGGCAGAGGCAG	NM_001463	NP_001454	183703198	Q92765	SFRP3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)		4	954	-	A	A			Missense_Mutation	246			NTR.			
FSCB	84075	broad.mit.edu	GRCh37	14	44974610	44974610	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-06-2558-01	TCGA-06-2558-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340446.4:c.1581T>A	p.Leu527=	p.L527=	ENST00000340446	NM_032135.3	527	ctT/ctA	0			1			T	L	uc001wvn.2	protein_coding	YES	CCDS9679.1			1581/2478									lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9	c.(1579-1581)CTT>CTA				fibrous sheath CABYR binding protein				ENSP00000344579		1-Jan									COSM3401313	1-Jan	.		ENST00000340446	Transcript				cilium		ENSG00000189139	g.chr14:44974610A>T	20494			LOW								--	--	1																																			1	1			p.L527L	NM_032135	NP_115511			1	FSCB_HUMAN	FSCB	HGNC	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)			1	1890	-			UPI00001FD466	527			Ala-rich.		SNV	FSCB,synonymous_variant,p.=,ENST00000340446,NM_032135.3;RP11-163M18.1,upstream_gene_variant,,ENST00000557465,;RP11-163M18.1,upstream_gene_variant,,ENST00000556228,;RP11-163M18.1,upstream_gene_variant,,ENST00000555433,;	uc001wvn.2	c.1581T>A	1873/2938	1	1			c.1581T>A						14	SNP	c.(1579-1581)CTT>CTA	2	2			lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9	Broad	fibrous sheath CABYR binding protein			44974610		0.493	ENSG00000189139	5961	g.chr14:44974610A>T		cilium				151			151	1.029465	KEEP	4	7	-1	59	45	4	7	-1	16.660914	59	45	0.087912	1	0	0	0	0	0	0	1	0	--	--		0	T				82	GBM-06-2558-TP	p.L527L	A	TAGCTGCTAGAAGCTGAATTT	NM_032135	NP_115511	44974610	Q5H9T9	FSCB_HUMAN	0		GBM - Glioblastoma multiforme(112;0.128)	1	1890	-	T	T			Silent	527			Ala-rich.			
FSCB	0	broad.mit.edu	GRCh37	14	44974303	44974303	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01	TCGA-12-3650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340446.4:c.1888G>A	p.Ala630Thr	p.A630T	ENST00000340446	NM_032135.3	630	Gcc/Acc	0			1			T	A/T	uc001wvn.2	protein_coding	YES	CCDS9679.1			1888/2478									lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9	c.(1888-1890)GCC>ACC			Low_complexity_(Seg):seg	fibrous sheath CABYR binding protein				ENSP00000344579		1-Jan									COSM222275	1-Jan	.		ENST00000340446	Transcript				cilium		ENSG00000189139	g.chr14:44974303C>T	20494			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=FSCB_HUMAN&rb=1&re=823&var=A630T	NA	getma.org/?cm=var&var=hg19,14,44974303,C,T&fts=all	A630T	--	--	1																																			1	1		unknown(0)	p.A630T	NM_032135	NP_115511		tolerated(0.17)	1	FSCB_HUMAN	FSCB	HGNC	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)			1	2197	-			UPI00001FD466	630			Ala-rich.		SNV	FSCB,missense_variant,p.Ala630Thr,ENST00000340446,NM_032135.3;RP11-163M18.1,upstream_gene_variant,,ENST00000557465,;RP11-163M18.1,upstream_gene_variant,,ENST00000556228,;RP11-163M18.1,upstream_gene_variant,,ENST00000555433,;	uc001wvn.2	c.1888G>A	2180/2938	1	1			c.1888G>A						14	SNP	c.(1888-1890)GCC>ACC	11	11			lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9	Broad	fibrous sheath CABYR binding protein			44974303		0.642	ENSG00000189139	5961	g.chr14:44974303C>T		cilium				151			151	1.600705	KEEP	6	2	-1	38	30	6	2	-1	6.479914	38	30	0.117647	1	0	0	0	0	1	0	0	0	--	--		0	T				126	GBM-12-3650-TP	p.A630T	C	TCAGCGGGGGCCTCCTCAGCT	NM_032135	NP_115511	44974303	Q5H9T9	FSCB_HUMAN	0		GBM - Glioblastoma multiforme(112;0.128)	1	2197	-	T	T			Missense_Mutation	630			Ala-rich.			
FSCN2	25794		GRCh37	17	79503762	79503762	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000334850.7:c.1292C>T	p.Ser431Phe	p.S431F	ENST00000334850		431	tCc/tTc	0																																																																																																																																																																																																																																												
FSD1	0	broad.mit.edu	GRCh37	19	4323057	4323057	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01	TCGA-32-2494-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221856.6:c.1114G>A	p.Gly372Ser	p.G372S	ENST00000221856	NM_024333.2	372	Ggc/Agc	0			1			A	G/S	uc002lzy.2	protein_coding	YES	CCDS12127.1			1114/1491									skin(1)	1	c.(1114-1116)GGC>AGC			Pfam_domain:PF00622,PROSITE_profiles:PS50188,hmmpanther:PTHR24099,SMART_domains:SM00449,Superfamily_domains:SSF49899	fibronectin type III and SPRY domain containing				ENSP00000221856		13-Nov									COSM3404302	13-Nov	.		ENST00000221856	Transcript			cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus		ENSG00000105255	g.chr19:4323057G>A	13745			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=FSD1_HUMAN&rb=353&re=474&var=G372S	getma.org/pdb.php?prot=FSD1_HUMAN&from=353&to=474&var=G372S	getma.org/?cm=var&var=hg19,19,4323057,G,A&fts=all	G372S	--	--	1																																		FSD1_uc002lzz.2_Missense_Mutation_p.G372S|FSD1_uc002maa.2_Missense_Mutation_p.G185S	1	1		probably_damaging(0.95)	p.G372S	NM_024333	NP_077309		deleterious(0.03)	1	FSD1_HUMAN	FSD1	HGNC	Q9BTV5	FSD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)			11	1267	+			UPI000007168A	372			B30.2/SPRY.		SNV	FSD1,missense_variant,p.Gly372Ser,ENST00000221856,NM_024333.2;FSD1,missense_variant,p.Gly372Ser,ENST00000597590,;FSD1,missense_variant,p.Gly10Ser,ENST00000594438,;FSD1,missense_variant,p.Gly55Ser,ENST00000601006,;FSD1,intron_variant,,ENST00000597480,;STAP2,downstream_gene_variant,,ENST00000600324,NM_017720.2;STAP2,downstream_gene_variant,,ENST00000594605,NM_001013841.1;STAP2,downstream_gene_variant,,ENST00000601482,;STAP2,downstream_gene_variant,,ENST00000598443,;STAP2,downstream_gene_variant,,ENST00000601956,;FSD1,downstream_gene_variant,,ENST00000598010,;STAP2,downstream_gene_variant,,ENST00000597593,;FSD1,non_coding_transcript_exon_variant,,ENST00000598179,;STAP2,downstream_gene_variant,,ENST00000599736,;STAP2,downstream_gene_variant,,ENST00000602007,;STAP2,downstream_gene_variant,,ENST00000596242,;STAP2,downstream_gene_variant,,ENST00000601179,;	uc002lzy.2	c.1114G>A	1261/1831	2	2			c.1114G>A						19	SNP	c.(1114-1116)GGC>AGC	29	29			skin(1)	1	Broad	fibronectin type III and SPRY domain containing			4323057		0.687	ENSG00000105255	5965	g.chr19:4323057G>A	cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus								27.004868	KEEP	5	7	-1	12	15	5	7	-1	28.223156	12	15	0.305556	1	0	0	0	0	1	0	0	0	--	--		0	A			FSD1_uc002lzz.2_Missense_Mutation_p.G372S|FSD1_uc002maa.2_Missense_Mutation_p.G185S	236	GBM-32-2494-TP	p.G372S	G	GTTCGGCGTGGGCGTGGCCTA	NM_024333	NP_077309	4323057	Q9BTV5	FSD1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1267	+	A	A			Missense_Mutation	372			B30.2/SPRY.			
FSD2	0	broad.mit.edu	GRCh37	15	83455346	83455346	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-4932-01	TCGA-76-4932-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334574.8:c.652A>G	p.Lys218Glu	p.K218E	ENST00000334574		218	Aaa/Gaa	0			1			C	K/E	uc002bjd.2	protein_coding	YES	CCDS45332.1			652/2250									central_nervous_system(1)	1	c.(652-654)AAA>GAA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24099:SF6,hmmpanther:PTHR24099,Superfamily_domains:SSF57845	fibronectin type III and SPRY domain containing				ENSP00000335651		13-Mar									COSM3401961	13-Mar	.		ENST00000334574	Transcript						ENSG00000186628	g.chr15:83455346T>C	18024			MODERATE		1.23	low	getma.org/?cm=msa&ty=f&p=FSD2_HUMAN&rb=201&re=372&var=K218E	NA	getma.org/?cm=var&var=hg19,15,83455346,T,C&fts=all	K218E	--	--	1																																		FSD2_uc010uol.1_Missense_Mutation_p.K218E|FSD2_uc010uom.1_Missense_Mutation_p.K218E	1	1		possibly_damaging(0.67)	p.K218E	NM_001007122	NP_001007123		tolerated(0.35)	1	FSD2_HUMAN	FSD2	HGNC	A1L4K1	FSD2_HUMAN			H0YLA8_HUMAN		3	819	-			UPI0000161097	218			Potential.		SNV	FSD2,missense_variant,p.Lys218Glu,ENST00000334574,;FSD2,missense_variant,p.Lys218Glu,ENST00000541889,NM_001007122.2,NM_001281805.1,NM_001281806.1;FSD2,downstream_gene_variant,,ENST00000561368,;	uc002bjd.2	c.652A>G	834/6418	3	3			c.652A>G						15	SNP	c.(652-654)AAA>GAA	63	63			central_nervous_system(1)	1	Broad	fibronectin type III and SPRY domain containing			83455346		0.363	ENSG00000186628	5966	g.chr15:83455346T>C										90.218451	KEEP	10	18	-1	20	15	10	18	-1	90.349007	20	15	0.45	1	0	0	0	0	1	0	0	0	--	--		0	C			FSD2_uc010uol.1_Missense_Mutation_p.K218E|FSD2_uc010uom.1_Missense_Mutation_p.K218E	271	GBM-76-4932-TP	p.K218E	T	TACATGTTTTTGTGAATTTCA	NM_001007122	NP_001007123	83455346	A1L4K1	FSD2_HUMAN	0			3	819	-	C	C			Missense_Mutation	218			Potential.			
FST	10468	broad.mit.edu	GRCh37	5	52780105	52780105	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0171-01	TCGA-06-0171-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256759.3:c.703T>C	p.Tyr235His	p.Y235H	ENST00000256759	NM_013409.2	235	Tat/Cat	0			1			C	Y/H	uc003jpd.2	protein_coding	YES	CCDS3959.1			703/1035										0	c.(703-705)TAT>CAT			Gene3D:3.30.60.30,Pfam_domain:PF07648,PROSITE_profiles:PS51465,hmmpanther:PTHR10913,hmmpanther:PTHR10913:SF6,SMART_domains:SM00280,Superfamily_domains:SSF100895	follistatin isoform FST344 precursor				ENSP00000256759		6-Apr									COSM3410307,COSM3410308	6-Apr	.		ENST00000256759	Transcript			hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity	ENSG00000134363	g.chr5:52780105T>C	3971			MODERATE		-0.125	neutral	getma.org/?cm=msa&ty=f&p=FST_HUMAN&rb=181&re=239&var=Y235H	getma.org/pdb.php?prot=FST_HUMAN&from=181&to=239&var=Y235H	getma.org/?cm=var&var=hg19,5,52780105,T,C&fts=all	Y235H	--	--	1																																		FST_uc003jpc.2_Missense_Mutation_p.Y235H	1,1	1		probably_damaging(1)	p.Y235H	NM_013409	NP_037541		tolerated(0.55)	1,1	FST_HUMAN	FST	HGNC	P19883	FST_HUMAN					4	730	+		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)	UPI000012AC56	235			Kazal-like 2.		SNV	FST,missense_variant,p.Tyr235His,ENST00000396947,NM_006350.3;FST,missense_variant,p.Tyr235His,ENST00000256759,NM_013409.2;FST,missense_variant,p.Tyr21His,ENST00000497789,;FST,missense_variant,p.Tyr107His,ENST00000504226,;FST,downstream_gene_variant,,ENST00000491717,;	uc003jpd.2	c.703T>C	1086/2519	3	3			c.703T>C						5	SNP	c.(703-705)TAT>CAT	8	8				0	Broad	follistatin isoform FST344 precursor			52780105		0.438	ENSG00000134363	5970	g.chr5:52780105T>C	hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity							-0.922031	KEEP	2	4	-1	43	54	2	4	-1	17.131865	43	54	0.065217	1	0	0	0	0	1	0	0	0	--	--		0	C			FST_uc003jpc.2_Missense_Mutation_p.Y235H	35	GBM-06-0171-TP	p.Y235H	T	TGGATTAGCCTATGAGGGAAA	NM_013409	NP_037541	52780105	P19883	FST_HUMAN	0			4	730	+	C	C		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)	Missense_Mutation	235			Kazal-like 2.			
FSTL1	11167	broad.mit.edu	GRCh37	3	120122088	120122088	+	splice_donor_variant	Splice_Site	SNP	C	C	T			TCGA-06-0745-01	TCGA-06-0745-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295633.3:c.694+1G>A		p.X232_splice	ENST00000295633	NM_007085.4	232		0			1			T		uc003eds.2	protein_coding	YES	CCDS2998.1			694/927									central_nervous_system(1)	1	c.e8+1				follistatin-like 1 precursor				ENSP00000295633											COSM2151759		.		ENST00000295633	Transcript			BMP signaling pathway	extracellular space	calcium ion binding|heparin binding	ENSG00000163430	g.chr3:120122088C>T	3972			HIGH	10-Aug							--	--	1																																		FSTL1_uc011bjh.1_Splice_Site_p.K197_splice	1	1			p.K232_splice	NM_007085	NP_009016			1	FSTL1_HUMAN	FSTL1	HGNC	Q12841	FSTL1_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	Q9BZQ0_HUMAN,C9J5G4_HUMAN		8	869	-			UPI00000422DB						SNV	FSTL1,splice_donor_variant,,ENST00000295633,NM_007085.4;FSTL1,splice_donor_variant,,ENST00000424703,;FSTL1,splice_donor_variant,,ENST00000480823,;FSTL1,downstream_gene_variant,,ENST00000468098,;FSTL1,upstream_gene_variant,,ENST00000488318,;	uc003eds.2	c.694_splice	-/5943	5	2			c.694_splice						3	SNP	c.e8+1	18	18			central_nervous_system(1)	1	Broad	follistatin-like 1 precursor			120122088		0.443	ENSG00000163430	5971	g.chr3:120122088C>T	BMP signaling pathway	extracellular space	calcium ion binding|heparin binding							83.679521	KEEP	21	12	-1	30	22	21	12	-1	84.736974	30	22	0.373333	1	0	0	0	0	0	0	0	1	--	--		0	T			FSTL1_uc011bjh.1_Splice_Site_p.K197_splice	67	GBM-06-0745-TP	p.K232_splice	C	GTTAGGCATACTCTTCTCAGG	NM_007085	NP_009016	120122088	Q12841	FSTL1_HUMAN	0		GBM - Glioblastoma multiforme(114;0.189)	8	869	-	T	T			Splice_Site							
FSTL1	11167	broad.mit.edu	GRCh37	3	120123732	120123732	+	synonymous_variant	Silent	SNP	C	C	T	rs138829728	by1000genomes	TCGA-06-5418-01	TCGA-06-5418-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295633.3:c.549G>A	p.Thr183=	p.T183=	ENST00000295633	NM_007085.4	183	acG/acA	0		T:0.0008	1	T:0		T	T	uc003eds.2	protein_coding	YES	CCDS2998.1			549/927									central_nervous_system(1)	1	c.(547-549)ACG>ACA			hmmpanther:PTHR10913:SF38,hmmpanther:PTHR10913,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	follistatin-like 1 precursor		T:0		ENSP00000295633	T:0	11-Jul	3.29E-05	0.000192						0.000121	rs138829728,COSM2153361	11-Jul	.		ENST00000295633	Transcript		T:0.0002	BMP signaling pathway	extracellular space	calcium ion binding|heparin binding	ENSG00000163430	g.chr3:120123732C>T	3972			LOW								--	--	1																																		FSTL1_uc011bjh.1_Silent_p.T148T	0,1	1			p.T183T	NM_007085	NP_009016	T:0		0,1	FSTL1_HUMAN	FSTL1	HGNC	Q12841	FSTL1_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	Q9BZQ0_HUMAN,C9J5G4_HUMAN		7	724	-			UPI00000422DB	183					SNV	FSTL1,synonymous_variant,p.=,ENST00000295633,NM_007085.4;FSTL1,synonymous_variant,p.=,ENST00000424703,;FSTL1,upstream_gene_variant,,ENST00000480823,;FSTL1,downstream_gene_variant,,ENST00000469005,;FSTL1,downstream_gene_variant,,ENST00000468098,;FSTL1,upstream_gene_variant,,ENST00000488318,;	uc003eds.2	c.549G>A	906/5943	1	1			c.549G>A						3	SNP	c.(547-549)ACG>ACA	16	16			central_nervous_system(1)	1	Broad	follistatin-like 1 precursor			120123732		0.448	ENSG00000163430	5971	g.chr3:120123732C>T	BMP signaling pathway	extracellular space	calcium ion binding|heparin binding							212.670164	KEEP	43	39	-1	88	60	43	39	-1	215.611267	88	60	0.371287	1	0	0	0	0	0	0	1	0	--	--		0	T			FSTL1_uc011bjh.1_Silent_p.T148T	100	GBM-06-5418-TP	p.T183T	C	GGTCTGGATACGTTGTAATAT	NM_007085	NP_009016	120123732	Q12841	FSTL1_HUMAN	0		GBM - Glioblastoma multiforme(114;0.189)	7	724	-	T	T			Silent	183						
FSTL4	23105	broad.mit.edu	GRCh37	5	132556518	132556518	+	synonymous_variant	Silent	SNP	G	G	A	rs141735817	byFrequency	TCGA-06-0132-01	TCGA-06-0132-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265342.7:c.1380C>T	p.Asp460=	p.D460=	ENST00000265342	NM_015082.1	460	gaC/gaT	0	A:0		1			A	D	uc003kyn.1	protein_coding	YES	CCDS34238.1			1380/2529									central_nervous_system(1)|skin(1)	2	c.(1378-1380)GAC>GAT			hmmpanther:PTHR10913,hmmpanther:PTHR10913:SF9,Superfamily_domains:0047643	follistatin-like 4 precursor			A:0.0002	ENSP00000265342		16-Dec	4.12E-05					7.49E-05			rs141735817,COSM3409734	16-Dec	.		ENST00000265342	Transcript				extracellular region	calcium ion binding	ENSG00000053108	g.chr5:132556518G>A	21389			LOW								--	--	1																																		FSTL4_uc003kym.1_Silent_p.D109D	0,1	1			p.D460D	NM_015082	NP_055897			0,1	FSTL4_HUMAN	FSTL4	HGNC	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)				12	1598	-		all_cancers(142;0.244)	UPI000003AFB0	460					SNV	FSTL4,synonymous_variant,p.=,ENST00000265342,NM_015082.1;CTB-49A3.2,intron_variant,,ENST00000502776,;CTB-49A3.2,intron_variant,,ENST00000509051,;FSTL4,non_coding_transcript_exon_variant,,ENST00000507112,;FSTL4,non_coding_transcript_exon_variant,,ENST00000509525,;	uc003kyn.1	c.1380C>T	1630/5419	1	1			c.1380C>T						5	SNP	c.(1378-1380)GAC>GAT	61	61			central_nervous_system(1)|skin(1)	2	Broad	follistatin-like 4 precursor			132556518		0.547	ENSG00000053108	5973	g.chr5:132556518G>A		extracellular region	calcium ion binding							-39.350746	KEEP	4	0	-1	117	88	4	0	-1	6.782936	117	88	0.022099	1	0	0	0	0	0	0	1	0	--	--		0	A			FSTL4_uc003kym.1_Silent_p.D109D	17	GBM-06-0132-TP	p.D460D	G	CGATGATACCGTCGTCGGAGA	NM_015082	NP_055897	132556518	Q6MZW2	FSTL4_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		12	1598	-	A	A		all_cancers(142;0.244)	Silent	460						
FSTL4	23105	broad.mit.edu	GRCh37	5	132535036	132535036	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0750-01	TCGA-06-0750-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265342.7:c.2280C>A	p.Asp760Glu	p.D760E	ENST00000265342	NM_015082.1	760	gaC/gaA	0			1			T	D/E	uc003kyn.1	protein_coding	YES	CCDS34238.1			2280/2529									central_nervous_system(1)|skin(1)	2	c.(2278-2280)GAC>GAA			hmmpanther:PTHR10913,hmmpanther:PTHR10913:SF9,Gene3D:2.130.10.10,Superfamily_domains:0047643	follistatin-like 4 precursor				ENSP00000265342		16/16									COSM2151936	16/16	.		ENST00000265342	Transcript				extracellular region	calcium ion binding	ENSG00000053108	g.chr5:132535036G>T	21389			MODERATE		2.435	medium	getma.org/?cm=msa&ty=f&p=FSTL4_HUMAN&rb=491&re=841&var=D760E	NA	getma.org/?cm=var&var=hg19,5,132535036,G,T&fts=all	D760E	--	--	1																																		FSTL4_uc003kym.1_Missense_Mutation_p.D409E	1	1		benign(0.14)	p.D760E	NM_015082	NP_055897		deleterious(0)	1	FSTL4_HUMAN	FSTL4	HGNC	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)				16	2498	-		all_cancers(142;0.244)	UPI000003AFB0	760					SNV	FSTL4,missense_variant,p.Asp760Glu,ENST00000265342,NM_015082.1;CTB-49A3.2,intron_variant,,ENST00000509051,;FSTL4,downstream_gene_variant,,ENST00000511375,;FSTL4,non_coding_transcript_exon_variant,,ENST00000509525,;	uc003kyn.1	c.2280C>A	2530/5419	1	1			c.2280C>A						5	SNP	c.(2278-2280)GAC>GAA	5	5			central_nervous_system(1)|skin(1)	2	Broad	follistatin-like 4 precursor			132535036		0.582	ENSG00000053108	5973	g.chr5:132535036G>T		extracellular region	calcium ion binding							101.876596	KEEP	14	22	0.388888889	45	23	14	22	0.388888889	103.391562	45	23	0.367347	1	0	0	0	0	1	0	0	0	--	--		0	T			FSTL4_uc003kym.1_Missense_Mutation_p.D409E	70	GBM-06-0750-TP	p.D760E	G	GGAACAGCAGGTCCGGCTCCG	NM_015082	NP_055897	132535036	Q6MZW2	FSTL4_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		16	2498	-	T	T		all_cancers(142;0.244)	Missense_Mutation	760						
FSTL5	56884	broad.mit.edu	GRCh37	4	162697175	162697175	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0213-01	TCGA-06-0213-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306100.5:c.461A>G	p.Asp154Gly	p.D154G	ENST00000306100	NM_001128427.2	154	gAt/gGt	0			1			C	D/G	uc003iqh.2	protein_coding	YES	CCDS3802.1			461/2544									ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	c.(460-462)GAT>GGT			Gene3D:1.10.238.10,hmmpanther:PTHR10913:SF44,hmmpanther:PTHR10913	follistatin-like 5 isoform a				ENSP00000305334		16-May									COSM2150812	16-May	.		ENST00000306100	Transcript				extracellular region	calcium ion binding	ENSG00000168843	g.chr4:162697175T>C	21386			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=FSTL5_HUMAN&rb=134&re=177&var=D154G	NA	getma.org/?cm=var&var=hg19,4,162697175,T,C&fts=all	D154G	--	--	1																																		FSTL5_uc003iqi.2_Missense_Mutation_p.D153G|FSTL5_uc010iqv.2_Missense_Mutation_p.D153G	1	1		benign(0.024)	p.D154G	NM_020116	NP_064501		tolerated(0.38)	1	FSTL5_HUMAN	FSTL5	HGNC	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	Q4W5Q0_HUMAN,Q4W5K3_HUMAN,Q4W5F8_HUMAN		5	897	-	all_hematologic(180;0.24)		UPI000020B66B	154					SNV	FSTL5,missense_variant,p.Asp154Gly,ENST00000306100,NM_001128427.2,NM_020116.4;FSTL5,missense_variant,p.Asp153Gly,ENST00000379164,;FSTL5,missense_variant,p.Asp153Gly,ENST00000427802,NM_001128428.2;FSTL5,missense_variant,p.Asp153Gly,ENST00000536695,;	uc003iqh.2	c.461A>G	898/4831	3	3			c.461A>G						4	SNP	c.(460-462)GAT>GGT	51	51			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	Broad	follistatin-like 5 isoform a			162697175		0.279	ENSG00000168843	5974	g.chr4:162697175T>C		extracellular region	calcium ion binding							70.691706	KEEP	6	16	-1	16	20	6	16	-1	71.210244	16	20	0.392157	1	0	0	0	0	1	0	0	0	--	--		0	C			FSTL5_uc003iqi.2_Missense_Mutation_p.D153G|FSTL5_uc010iqv.2_Missense_Mutation_p.D153G	49	GBM-06-0213-TP	p.D154G	T	ATTTTGTAAATCTAATAGCAT	NM_020116	NP_064501	162697175	Q8N475	FSTL5_HUMAN	0		COAD - Colon adenocarcinoma(41;0.179)	5	897	-	C	C	all_hematologic(180;0.24)		Missense_Mutation	154						
FSTL5	0	broad.mit.edu	GRCh37	4	162459448	162459448	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-19-1390-01	TCGA-19-1390-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306100.5:c.1182T>C	p.Asn394=	p.N394=	ENST00000306100	NM_001128427.2	394	aaT/aaC	0			1			G	N	uc003iqh.2	protein_coding	YES	CCDS3802.1			1182/2544									ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	c.(1180-1182)AAT>AAC			Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Pfam_domain:PF07679,Gene3D:2.60.40.10,hmmpanther:PTHR10913:SF44,hmmpanther:PTHR10913,PROSITE_profiles:PS50835	follistatin-like 5 isoform a				ENSP00000305334		16-Oct									COSM3409141	16-Oct	.		ENST00000306100	Transcript				extracellular region	calcium ion binding	ENSG00000168843	g.chr4:162459448A>G	21386			LOW								--	--	1																																		FSTL5_uc003iqi.2_Silent_p.N393N|FSTL5_uc010iqv.2_Silent_p.N393N	1	1			p.N394N	NM_020116	NP_064501			1	FSTL5_HUMAN	FSTL5	HGNC	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	Q4W5Q0_HUMAN,Q4W5K3_HUMAN,Q4W5F8_HUMAN		10	1618	-	all_hematologic(180;0.24)		UPI000020B66B	394			Ig-like 2.		SNV	FSTL5,synonymous_variant,p.=,ENST00000306100,NM_001128427.2,NM_020116.4;FSTL5,synonymous_variant,p.=,ENST00000379164,;FSTL5,synonymous_variant,p.=,ENST00000427802,NM_001128428.2;FSTL5,synonymous_variant,p.=,ENST00000536695,;FSTL5,downstream_gene_variant,,ENST00000511170,;	uc003iqh.2	c.1182T>C	1619/4831	3	3			c.1182T>C						4	SNP	c.(1180-1182)AAT>AAC	49	49			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	Broad	follistatin-like 5 isoform a			162459448		0.408	ENSG00000168843	5974	g.chr4:162459448A>G		extracellular region	calcium ion binding							390.025535	KEEP	67	54	-1	86	65	67	54	-1	390.153752	86	65	0.475207	1	0	0	0	0	0	0	1	0	--	--		0	G			FSTL5_uc003iqi.2_Silent_p.N393N|FSTL5_uc010iqv.2_Silent_p.N393N	159	GBM-19-1390-TP	p.N394N	A	CCTCACTGCCATTTGCTGAAA	NM_020116	NP_064501	162459448	Q8N475	FSTL5_HUMAN	0		COAD - Colon adenocarcinoma(41;0.179)	10	1618	-	G	G	all_hematologic(180;0.24)		Silent	394			Ig-like 2.			
FSTL5	0	broad.mit.edu	GRCh37	4	162680612	162680614	+	inframe_deletion	In_Frame_Del	DEL	ATC	ATC	-			TCGA-32-1986-01	TCGA-32-1986-01	ATC	ATC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306100.5:c.676_678delGAT	p.Asp226del	p.D226del	ENST00000306100	NM_001128427.2	226	GAT/-	0			1			-	D/-	uc003iqh.2	protein_coding	YES	CCDS3802.1			676-678/2544									ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	c.(676-678)GATdel			Superfamily_domains:SSF47473,Gene3D:1.10.238.10,PROSITE_patterns:PS00018,hmmpanther:PTHR10913:SF44,hmmpanther:PTHR10913	follistatin-like 5 isoform a				ENSP00000305334		16-Jun										16-Jun	.		ENST00000306100	Transcript				extracellular region	calcium ion binding	ENSG00000168843	g.chr4:162680612_162680614delATC	21386			MODERATE								--	--	1																																		FSTL5_uc003iqi.2_In_Frame_Del_p.D225del|FSTL5_uc010iqv.2_In_Frame_Del_p.D225del		1			p.D226del	NM_020116	NP_064501				FSTL5_HUMAN	FSTL5	HGNC	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	Q4W5Q0_HUMAN,Q4W5K3_HUMAN,Q4W5F8_HUMAN		6	1112_1114	-	all_hematologic(180;0.24)		UPI000020B66B	226			2 (Potential).|EF-hand 2.		deletion	FSTL5,inframe_deletion,p.Asp226del,ENST00000306100,NM_001128427.2,NM_020116.4;FSTL5,inframe_deletion,p.Asp225del,ENST00000379164,;FSTL5,inframe_deletion,p.Asp225del,ENST00000427802,NM_001128428.2;FSTL5,inframe_deletion,p.Asp225del,ENST00000536695,;	uc003iqh.2	c.676_678delGAT	1113-1115/4831	5	5			c.676_678delGAT						4	DEL	c.(676-678)GATdel	49	49			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	Broad	follistatin-like 5 isoform a			162680614		0.34	ENSG00000168843	5974	g.chr4:162680612_162680614delATC		extracellular region	calcium ion binding																				0.2	1	1	0	1	0	0	0	0	0	--	--		0	-			FSTL5_uc003iqi.2_In_Frame_Del_p.D225del|FSTL5_uc010iqv.2_In_Frame_Del_p.D225del	233	GBM-32-1986-TP	p.D226del	ATC	CAGCATTAAAATCATCATATTTC	NM_020116	NP_064501	162680612	Q8N475	FSTL5_HUMAN	0		COAD - Colon adenocarcinoma(41;0.179)	6	1112_1114	-	-	-	all_hematologic(180;0.24)		In_Frame_Del	226			2 (Potential).|EF-hand 2.			
FTHL17	53940	broad.mit.edu	GRCh37	X	31089888	31089888	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0875-01	TCGA-06-0875-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359202.3:c.183C>T	p.Asp61=	p.D61=	ENST00000359202	NM_031894.2	61	gaC/gaT	0			1			A	D	uc004dcl.1	protein_coding	YES	CCDS14227.1			183/552										0	c.(181-183)GAC>GAT			PROSITE_profiles:PS50905,hmmpanther:PTHR11431:SF33,hmmpanther:PTHR11431,Pfam_domain:PF00210,Gene3D:1.20.1260.10,Superfamily_domains:SSF47240	ferritin, heavy polypeptide-like 17				ENSP00000368207		1-Jan									COSM2151985,COSM2151984	1-Jan	.		ENST00000359202	Transcript			cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	ENSG00000132446	g.chrX:31089888G>A	3987			LOW								--	--	1																																			1,1	1			p.D61D	NM_031894	NP_114100			1,1	FHL17_HUMAN	FTHL17	HGNC	Q9BXU8	FHL17_HUMAN					1	286	-			UPI00000421FF	61			Ferritin-like diiron.		SNV	FTHL17,synonymous_variant,p.=,ENST00000359202,NM_031894.2;	uc004dcl.1	c.183C>T	283/811	1	1			c.183C>T						23	SNP	c.(181-183)GAC>GAT	51	51				0	Broad	ferritin, heavy polypeptide-like 17			31089888		0.577	ENSG00000132446	5977	g.chrX:31089888G>A	cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity							344.132194	KEEP	70	50	-1	47	46	70	50	-1	344.679733	47	46	0.557292	1	0	0	0	0	0	0	1	0	--	--		0	A				71	GBM-06-0875-TP	p.D61D	G	CCATTTTGTCGTCCGACAGGC	NM_031894	NP_114100	31089888	Q9BXU8	FHL17_HUMAN	0			1	286	-	A	A			Silent	61			Ferritin-like diiron.			
FTHL17	0	broad.mit.edu	GRCh37	X	31089936	31089936	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6700-01	TCGA-06-6700-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359202.3:c.135C>T	p.Asp45=	p.D45=	ENST00000359202	NM_031894.2	45	gaC/gaT	0			1			A	D	uc004dcl.1	protein_coding	YES	CCDS14227.1			135/552										0	c.(133-135)GAC>GAT			PROSITE_profiles:PS50905,hmmpanther:PTHR11431:SF33,hmmpanther:PTHR11431,Pfam_domain:PF00210,Gene3D:1.20.1260.10,Superfamily_domains:SSF47240	ferritin, heavy polypeptide-like 17				ENSP00000368207		1-Jan									COSM3406282,COSM3406283	1-Jan	.		ENST00000359202	Transcript			cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	ENSG00000132446	g.chrX:31089936G>A	3987			LOW								--	--	1																																			1,1	1			p.D45D	NM_031894	NP_114100			1,1	FHL17_HUMAN	FTHL17	HGNC	Q9BXU8	FHL17_HUMAN					1	238	-			UPI00000421FF	45			Ferritin-like diiron.		SNV	FTHL17,synonymous_variant,p.=,ENST00000359202,NM_031894.2;	uc004dcl.1	c.135C>T	235/811	1	1			c.135C>T						23	SNP	c.(133-135)GAC>GAT	54	54				0	Broad	ferritin, heavy polypeptide-like 17			31089936		0.582	ENSG00000132446	5977	g.chrX:31089936G>A	cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity							75.239039	KEEP	13	16	-1	23	17	13	16	-1	75.528757	23	17	0.42623	1	0	0	0	0	0	0	1	0	--	--		0	A				114	GBM-06-6700-TP	p.D45D	G	GGGCCACGTCGTCCCGGTTGA	NM_031894	NP_114100	31089936	Q9BXU8	FHL17_HUMAN	0			1	238	-	A	A			Silent	45			Ferritin-like diiron.			
FTHL17	0	broad.mit.edu	GRCh37	X	31089936	31089936	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359202.3:c.135C>T	p.Asp45=	p.D45=	ENST00000359202	NM_031894.2	45	gaC/gaT	0			1			A	D	uc004dcl.1	protein_coding	YES	CCDS14227.1			135/552										0	c.(133-135)GAC>GAT			PROSITE_profiles:PS50905,hmmpanther:PTHR11431:SF33,hmmpanther:PTHR11431,Pfam_domain:PF00210,Gene3D:1.20.1260.10,Superfamily_domains:SSF47240	ferritin, heavy polypeptide-like 17				ENSP00000368207		1-Jan									COSM3406282,COSM3406283	1-Jan	.		ENST00000359202	Transcript			cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	ENSG00000132446	g.chrX:31089936G>A	3987			LOW								--	--	1																																			1,1	1			p.D45D	NM_031894	NP_114100			1,1	FHL17_HUMAN	FTHL17	HGNC	Q9BXU8	FHL17_HUMAN					1	238	-			UPI00000421FF	45			Ferritin-like diiron.		SNV	FTHL17,synonymous_variant,p.=,ENST00000359202,NM_031894.2;	uc004dcl.1	c.135C>T	235/811	1	1			c.135C>T						23	SNP	c.(133-135)GAC>GAT	54	54				0	Broad	ferritin, heavy polypeptide-like 17			31089936		0.582	ENSG00000132446	5977	g.chrX:31089936G>A	cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity							106.317292	KEEP	16	28	-1	23	39	16	28	-1	107.232019	23	39	0.395833	1	0	0	0	0	0	0	1	0	--	--		0	A				177	GBM-19-5959-TP	p.D45D	G	GGGCCACGTCGTCCCGGTTGA	NM_031894	NP_114100	31089936	Q9BXU8	FHL17_HUMAN	0			1	238	-	A	A			Silent	45			Ferritin-like diiron.			
FTMT	94033	broad.mit.edu	GRCh37	5	121187974	121187974	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01	TCGA-06-0166-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321339.1:c.316G>A	p.Val106Met	p.V106M	ENST00000321339	NM_177478.1	106	Gtg/Atg	0			1			A	V/M	uc003kss.2	protein_coding	YES	CCDS4128.1			316/729									ovary(1)	1	c.(316-318)GTG>ATG			Gene3D:1.20.1260.10,Pfam_domain:PF00210,PROSITE_profiles:PS50905,hmmpanther:PTHR11431,hmmpanther:PTHR11431:SF30,Superfamily_domains:SSF47240	ferritin mitochondrial precursor				ENSP00000313691		1-Jan									COSM2150195	1-Jan	.		ENST00000321339	Transcript			cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	ENSG00000181867	g.chr5:121187974G>A	17345			MODERATE		2.765	medium	getma.org/?cm=msa&ty=f&p=FTMT_HUMAN&rb=77&re=218&var=V106M	getma.org/pdb.php?prot=FTMT_HUMAN&from=77&to=218&var=V106M	getma.org/?cm=var&var=hg19,5,121187974,G,A&fts=all	V106M	--	--	1																																			1	1		probably_damaging(0.915)	p.V106M	NM_177478	NP_803431		deleterious(0.02)	1	FTMT_HUMAN	FTMT	HGNC	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)			1	325	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	UPI000006F87E	106			Ferritin-like diiron.		SNV	FTMT,missense_variant,p.Val106Met,ENST00000321339,NM_177478.1;	uc003kss.2	c.316G>A	325/870	1	1			c.316G>A						5	SNP	c.(316-318)GTG>ATG	59	59			ovary(1)	1	Broad	ferritin mitochondrial precursor			121187974		0.592	ENSG00000181867	5979	g.chr5:121187974G>A	cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity							98.765579	KEEP	17	25	-1	40	34	17	25	-1	100.939976	40	34	0.346154	1	0	0	0	0	1	0	0	0	--	--		0	A				31	GBM-06-0166-TP	p.V106M	G	CCGGGATGACGTGGCCTTGAA	NM_177478	NP_803431	121187974	Q8N4E7	FTMT_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	325	+	A	A		all_cancers(142;0.0124)|Prostate(80;0.0322)	Missense_Mutation	106			Ferritin-like diiron.			
FTMT	0	broad.mit.edu	GRCh37	5	121187841	121187841	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2634-01	TCGA-32-2634-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321339.1:c.183C>T	p.Pro61=	p.P61=	ENST00000321339	NM_177478.1	61	ccC/ccT	0			1			T	P	uc003kss.2	protein_coding	YES	CCDS4128.1			183/729									ovary(1)	1	c.(181-183)CCC>CCT			hmmpanther:PTHR11431,hmmpanther:PTHR11431:SF30	ferritin mitochondrial precursor				ENSP00000313691		1-Jan									COSM3409680	1-Jan	.		ENST00000321339	Transcript			cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	ENSG00000181867	g.chr5:121187841C>T	17345			LOW								--	--	1																																			1	1			p.P61P	NM_177478	NP_803431			1	FTMT_HUMAN	FTMT	HGNC	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)			1	192	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	UPI000006F87E	61					SNV	FTMT,synonymous_variant,p.=,ENST00000321339,NM_177478.1;	uc003kss.2	c.183C>T	192/870	2	2			c.183C>T						5	SNP	c.(181-183)CCC>CCT	21	21			ovary(1)	1	Broad	ferritin mitochondrial precursor			121187841		0.736	ENSG00000181867	5979	g.chr5:121187841C>T	cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity							54.067897	KEEP	6	11	-1	14	13	6	11	-1	54.328773	14	13	0.414634	1	0	0	0	0	0	0	1	0	--	--		0	T				241	GBM-32-2634-TP	p.P61P	C	CTACCGGGCCCGCCGCCGGCC	NM_177478	NP_803431	121187841	Q8N4E7	FTMT_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	192	+	T	T		all_cancers(142;0.0124)|Prostate(80;0.0322)	Silent	61						
FTMT	0	broad.mit.edu	GRCh37	5	121187869	121187869	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-41-2573-01	TCGA-41-2573-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321339.1:c.211A>G	p.Asn71Asp	p.N71D	ENST00000321339	NM_177478.1	71	Aac/Gac	0			1			G	N/D	uc003kss.2	protein_coding	YES	CCDS4128.1			211/729									ovary(1)	1	c.(211-213)AAC>GAC			Gene3D:1.20.1260.10,PROSITE_profiles:PS50905,hmmpanther:PTHR11431,hmmpanther:PTHR11431:SF30,Superfamily_domains:SSF47240	ferritin mitochondrial precursor				ENSP00000313691		1-Jan									COSM3409681	1-Jan	.		ENST00000321339	Transcript			cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	ENSG00000181867	g.chr5:121187869A>G	17345			MODERATE		2.795	medium	getma.org/?cm=msa&ty=f&p=FTMT_HUMAN&rb=70&re=219&var=N71D	getma.org/pdb.php?prot=FTMT_HUMAN&from=70&to=219&var=N71D	getma.org/?cm=var&var=hg19,5,121187869,A,G&fts=all	N71D	--	--	1																																			1	1		benign(0.374)	p.N71D	NM_177478	NP_803431		deleterious(0.04)	1	FTMT_HUMAN	FTMT	HGNC	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)			1	220	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	UPI000006F87E	71			Ferritin-like diiron.		SNV	FTMT,missense_variant,p.Asn71Asp,ENST00000321339,NM_177478.1;	uc003kss.2	c.211A>G	220/870	3	3			c.211A>G						5	SNP	c.(211-213)AAC>GAC	53	53			ovary(1)	1	Broad	ferritin mitochondrial precursor			121187869		0.692	ENSG00000181867	5979	g.chr5:121187869A>G	cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity							45.738681	KEEP	8	6	-1	19	11	8	6	-1	46.897505	19	11	0.325581	1	0	0	0	0	1	0	0	0	--	--		0	G				252	GBM-41-2573-TP	p.N71D	A	GGTGCGCCAGAACTTCCACCC	NM_177478	NP_803431	121187869	Q8N4E7	FTMT_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	220	+	G	G		all_cancers(142;0.0124)|Prostate(80;0.0322)	Missense_Mutation	71			Ferritin-like diiron.			
FTSJ1	24140	broad.mit.edu	GRCh37	X	48337070	48337070	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0128-01	TCGA-06-0128-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000348411.2:c.257T>C	p.Val86Ala	p.V86A	ENST00000348411	NM_012280.2	86	gTa/gCa	0			1			C	V/A	uc004djo.1	protein_coding	YES	CCDS14294.1			257/990										0	c.(256-258)GTA>GCA			Superfamily_domains:SSF53335,Gene3D:3.40.50.150,Pfam_domain:PF01728,hmmpanther:PTHR10920,HAMAP:MF_03162,HAMAP:MF_01547	FtsJ homolog 1 isoform a				ENSP00000326948		13-Apr									COSM3406411	13-Apr	.		ENST00000348411	Transcript	1		RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding	ENSG00000068438	g.chrX:48337070T>C	13254			MODERATE		1.47	low	getma.org/?cm=msa&ty=f&p=RRMJ1_HUMAN&rb=21&re=199&var=V86A	getma.org/pdb.php?prot=RRMJ1_HUMAN&from=21&to=199&var=V86A	getma.org/?cm=var&var=hg19,X,48337070,T,C&fts=all	V86A	--	--	1																																		FTSJ1_uc004djl.2_Missense_Mutation_p.V86A|FTSJ1_uc004djm.2_Missense_Mutation_p.V86A|FTSJ1_uc004djn.1_Missense_Mutation_p.V86A|FTSJ1_uc004djp.1_Missense_Mutation_p.V86A|FTSJ1_uc011mlw.1_Intron	1	1		benign(0.039)	p.V86A	NM_012280	NP_036412		tolerated(0.05)	1	TRM7_HUMAN	FTSJ1	HGNC	Q9UET6	RRMJ1_HUMAN					4	580	+			UPI0000001C19	86					SNV	FTSJ1,missense_variant,p.Val86Ala,ENST00000019019,NM_177439.1;FTSJ1,missense_variant,p.Val86Ala,ENST00000348411,NM_012280.2;FTSJ1,missense_variant,p.Val86Ala,ENST00000456787,NM_177434.1;FTSJ1,intron_variant,,ENST00000396894,NM_001282157.1;FTSJ1,splice_donor_variant,,ENST00000487353,;FTSJ1,non_coding_transcript_exon_variant,,ENST00000490202,;FTSJ1,non_coding_transcript_exon_variant,,ENST00000485486,;FTSJ1,intron_variant,,ENST00000473235,;FTSJ1,intron_variant,,ENST00000492562,;FTSJ1,upstream_gene_variant,,ENST00000496365,;FTSJ1,upstream_gene_variant,,ENST00000467954,;FTSJ1,upstream_gene_variant,,ENST00000489599,;FTSJ1,upstream_gene_variant,,ENST00000466371,;FTSJ1,upstream_gene_variant,,ENST00000475806,;	uc004djo.1	c.257T>C	580/1892	3	3			c.257T>C						23	SNP	c.(256-258)GTA>GCA	63	63				0	Broad	FtsJ homolog 1 isoform a			48337070		0.567	ENSG00000068438	5981	g.chrX:48337070T>C	RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding							2.234763	KEEP	2	0	-1	8	15	2	0	-1	6.465143	8	15	0.083333	1	0	0	0	0	1	0	0	0	--	--		0	C			FTSJ1_uc004djl.2_Missense_Mutation_p.V86A|FTSJ1_uc004djm.2_Missense_Mutation_p.V86A|FTSJ1_uc004djn.1_Missense_Mutation_p.V86A|FTSJ1_uc004djp.1_Missense_Mutation_p.V86A|FTSJ1_uc011mlw.1_Intron	14	GBM-06-0128-TP	p.V86A	T	CCAGGTGTGGTACAGATCCAG	NM_012280	NP_036412	48337070	Q9UET6	RRMJ1_HUMAN	0			4	580	+	C	C			Missense_Mutation	86						
FTSJ1	0	broad.mit.edu	GRCh37	X	48337447	48337447	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs75296308	byFrequency;by1000genomes	TCGA-41-3393-01	TCGA-41-3393-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000348411.2:c.304A>T	p.Ile102Phe	p.I102F	ENST00000348411	NM_012280.2	102	Atc/Ttc	0	T:0.0044	T:0.0068	1	T:0		T	I/F	uc004djo.1	protein_coding	YES	CCDS14294.1			304/990										0	c.(304-306)ATC>TTC			Superfamily_domains:SSF53335,Gene3D:3.40.50.150,Pfam_domain:PF01728,hmmpanther:PTHR10920,HAMAP:MF_03162,HAMAP:MF_01547	FtsJ homolog 1 isoform a		T:0	T:0	ENSP00000326948	T:0	13-May	0.000494	0.00564							rs75296308,COSM3406412	13-May	common_variant		ENST00000348411	Transcript	1	T:0.0024	RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding	ENSG00000068438	g.chrX:48337447A>T	13254			MODERATE		2.185	medium	getma.org/?cm=msa&ty=f&p=RRMJ1_HUMAN&rb=21&re=199&var=I102F	getma.org/pdb.php?prot=RRMJ1_HUMAN&from=21&to=199&var=I102F	getma.org/?cm=var&var=hg19,X,48337447,A,T&fts=all	I102F	--	--	1																																		FTSJ1_uc004djl.2_Missense_Mutation_p.I102F|FTSJ1_uc004djm.2_Missense_Mutation_p.I102F|FTSJ1_uc004djn.1_Missense_Mutation_p.I102F|FTSJ1_uc004djp.1_Missense_Mutation_p.I102F|FTSJ1_uc011mlw.1_5'UTR	0,1	1		benign(0.144)	p.I102F	NM_012280	NP_036412	T:0	deleterious(0.03)	0,1	TRM7_HUMAN	FTSJ1	HGNC	Q9UET6	RRMJ1_HUMAN					5	627	+			UPI0000001C19	102					SNV	FTSJ1,missense_variant,p.Ile102Phe,ENST00000019019,NM_177439.1;FTSJ1,missense_variant,p.Ile102Phe,ENST00000348411,NM_012280.2;FTSJ1,missense_variant,p.Ile102Phe,ENST00000456787,NM_177434.1;FTSJ1,5_prime_UTR_variant,,ENST00000396894,NM_001282157.1;FTSJ1,non_coding_transcript_exon_variant,,ENST00000496365,;FTSJ1,non_coding_transcript_exon_variant,,ENST00000490202,;FTSJ1,non_coding_transcript_exon_variant,,ENST00000487353,;FTSJ1,non_coding_transcript_exon_variant,,ENST00000485486,;FTSJ1,intron_variant,,ENST00000473235,;FTSJ1,intron_variant,,ENST00000492562,;FTSJ1,upstream_gene_variant,,ENST00000467954,;FTSJ1,upstream_gene_variant,,ENST00000489599,;FTSJ1,upstream_gene_variant,,ENST00000466371,;FTSJ1,upstream_gene_variant,,ENST00000475806,;	uc004djo.1	c.304A>T	627/1892	2	2			c.304A>T						23	SNP	c.(304-306)ATC>TTC	48	48				0	Broad	FtsJ homolog 1 isoform a			48337447		0.632	ENSG00000068438	5981	g.chrX:48337447A>T	RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding							129.972357	KEEP	33	31	-1	118	122	33	31	-1	149.309874	118	122	0.209677	1	0	0	0	0	1	0	0	0	--	--		0	T			FTSJ1_uc004djl.2_Missense_Mutation_p.I102F|FTSJ1_uc004djm.2_Missense_Mutation_p.I102F|FTSJ1_uc004djn.1_Missense_Mutation_p.I102F|FTSJ1_uc004djp.1_Missense_Mutation_p.I102F|FTSJ1_uc011mlw.1_5'UTR	255	GBM-41-3393-TP	p.I102F	A	CAAGGAGATCATCCAGCACTT	NM_012280	NP_036412	48337447	Q9UET6	RRMJ1_HUMAN	0			5	627	+	T	T			Missense_Mutation	102						
FTSJ2	0	broad.mit.edu	GRCh37	7	2281798	2281798	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0745-01	TCGA-06-0745-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000242257.8:c.7G>A	p.Gly3Arg	p.G3R	ENST00000242257	NM_013393.1	3	Ggg/Agg	0			1			T	G/R	uc003slm.2	protein_coding	YES	CCDS5328.1			7/741									ovary(1)	1	c.(7-9)GGG>AGG				FtsJ homolog 2				ENSP00000242257		3-Jan									COSM3411936	3-Jan	.		ENST00000242257	Transcript			cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity	ENSG00000122687	g.chr7:2281798C>T	16352			MODERATE		-0.51	neutral	getma.org/?cm=msa&ty=f&p=RRMJ2_HUMAN&rb=1&re=51&var=G3R	NA	getma.org/?cm=var&var=hg19,7,2281798,C,T&fts=all	G3R	--	--	1																																		FTSJ2_uc003slk.2_5'UTR|FTSJ2_uc003sll.2_5'UTR|FTSJ2_uc003sln.2_RNA|FTSJ2_uc003slo.2_5'UTR|NUDT1_uc003slp.1_5'Flank|NUDT1_uc003slq.1_5'Flank|NUDT1_uc003slr.1_5'Flank|NUDT1_uc003sls.1_5'Flank|NUDT1_uc003slt.1_5'Flank|NUDT1_uc003slu.1_5'Flank|NUDT1_uc003slv.1_5'Flank	1	1		benign(0.002)	p.G3R	NM_013393	NP_037525		tolerated_low_confidence(0.93)	1	RRMJ2_HUMAN	FTSJ2	HGNC	Q9UI43	RRMJ2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)	Q68D18_HUMAN		1	36	-		Ovarian(82;0.0253)	UPI00000373C0	3					SNV	FTSJ2,missense_variant,p.Gly3Arg,ENST00000440306,;FTSJ2,missense_variant,p.Gly3Arg,ENST00000242257,NM_013393.1;NUDT1,upstream_gene_variant,,ENST00000454650,;NUDT1,upstream_gene_variant,,ENST00000397049,NM_198948.1,NM_198949.1;NUDT1,upstream_gene_variant,,ENST00000397048,NM_198952.1;NUDT1,upstream_gene_variant,,ENST00000343985,NM_198954.1;NUDT1,upstream_gene_variant,,ENST00000397046,NM_198950.1;NUDT1,upstream_gene_variant,,ENST00000339737,NM_198953.1;NUDT1,upstream_gene_variant,,ENST00000356714,NM_002452.3;FTSJ2,upstream_gene_variant,,ENST00000407040,;FTSJ2,splice_region_variant,,ENST00000486040,;FTSJ2,non_coding_transcript_exon_variant,,ENST00000467199,;NUDT1,upstream_gene_variant,,ENST00000471348,;	uc003slm.2	c.7G>A	36/1601	2	2			c.7G>A						7	SNP	c.(7-9)GGG>AGG	35	35			ovary(1)	1	Broad	FtsJ homolog 2			2281798		0.736	ENSG00000122687	5982	g.chr7:2281798C>T	cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity							22.792072	KEEP	3	7	-1	6	18	3	7	-1	23.152702	6	18	0.363636	1	0	0	0	0	1	0	0	0	--	--		0	T			FTSJ2_uc003slk.2_5'UTR|FTSJ2_uc003sll.2_5'UTR|FTSJ2_uc003sln.2_RNA|FTSJ2_uc003slo.2_5'UTR|NUDT1_uc003slp.1_5'Flank|NUDT1_uc003slq.1_5'Flank|NUDT1_uc003slr.1_5'Flank|NUDT1_uc003sls.1_5'Flank|NUDT1_uc003slt.1_5'Flank|NUDT1_uc003slu.1_5'Flank|NUDT1_uc003slv.1_5'Flank	67	GBM-06-0745-TP	p.G3R	C	CCAGCTCACCCCGCCATTGGT	NM_013393	NP_037525	2281798	Q9UI43	RRMJ2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)	1	36	-	T	T		Ovarian(82;0.0253)	Missense_Mutation	3						
FUCA1	0	broad.mit.edu	GRCh37	1	24180899	24180899	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01	TCGA-76-4928-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374479.3:c.920G>A	p.Arg307His	p.R307H	ENST00000374479	NM_000147.4	307	cGt/cAt	0			1			T	R/H	uc001bie.2	protein_coding	YES	CCDS244.2			920/1401									breast(1)	1	c.(919-921)CGT>CAT			Superfamily_domains:SSF51445,SMART_domains:SM00812,PIRSF_domain:PIRSF001092,Pfam_domain:PF01120,Gene3D:3.20.20.80,hmmpanther:PTHR10030:SF2,hmmpanther:PTHR10030	fucosidase, alpha-L-1, tissue precursor				ENSP00000363603		8-May									COSM906443	8-May	.		ENST00000374479	Transcript	1		fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding	ENSG00000179163	g.chr1:24180899C>T	4006			MODERATE		2.2	medium	getma.org/?cm=msa&ty=f&p=FUCO_HUMAN&rb=15&re=371&var=R307H	getma.org/pdb.php?prot=FUCO_HUMAN&from=15&to=371&var=R307H	getma.org/?cm=var&var=hg19,1,24180899,C,T&fts=all	R307H	--	--	1																																		FUCA1_uc009vqt.1_RNA	1	1		benign(0.248)	p.R307H	NM_000147	NP_000138		deleterious(0)	1	FUCO_HUMAN	FUCA1	HGNC	P04066	FUCO_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)	B5MDC5_HUMAN		5	965	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	UPI000013F479	307					SNV	FUCA1,missense_variant,p.Arg307His,ENST00000374479,NM_000147.4;	uc001bie.2	c.920G>A	928/2047	2	2			c.920G>A						1	SNP	c.(919-921)CGT>CAT	17	17			breast(1)	1	Broad	fucosidase, alpha-L-1, tissue precursor			24180899		0.378	ENSG00000179163	5988	g.chr1:24180899C>T	fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding							117.419813	KEEP	34	31	-1	124	134	34	31	-1	138.270126	124	134	0.211111	1	0	0	0	0	1	0	0	0	--	--		0	T			FUCA1_uc009vqt.1_RNA	268	GBM-76-4928-TP	p.R307H	C	CATGTCACGACGATAGCCCCA	NM_000147	NP_000138	24180899	P04066	FUCO_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)	5	965	-	T	T		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	307						
FUT1	2523	broad.mit.edu	GRCh37	19	49253828	49253828	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310160.3:c.711C>T	p.Gly237=	p.G237=	ENST00000310160	NM_000148.3	237	ggC/ggT	0			1			A	G	uc002pkk.2	protein_coding	YES	CCDS12733.1			711/1098									ovary(1)	1	c.(709-711)GGC>GGT			Pfam_domain:PF01531,hmmpanther:PTHR11927,hmmpanther:PTHR11927:SF4	fucosyltransferase 1				ENSP00000312021		4-Apr									COSM2151798	4-Apr	.		ENST00000310160	Transcript	1		L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity	ENSG00000174951	g.chr19:49253828G>A	4012			LOW								--	--	1																																			1	1			p.G237G	NM_000148	NP_000139			1	FUT1_HUMAN	FUT1	HGNC	P19526	FUT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)	Q6IZA2_HUMAN,Q76N68_HUMAN,Q5U805_HUMAN,E3UTT6_HUMAN,A7XM32_HUMAN,A7XM28_HUMAN		4	1686	-		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	UPI00000338F8	237			Lumenal (Potential).		SNV	FUT1,synonymous_variant,p.=,ENST00000310160,NM_000148.3;IZUMO1,upstream_gene_variant,,ENST00000332955,NM_182575.2;FGF21,upstream_gene_variant,,ENST00000593756,;IZUMO1,upstream_gene_variant,,ENST00000602105,;FUT1,downstream_gene_variant,,ENST00000601931,;FUT1,downstream_gene_variant,,ENST00000601988,;FUT1,downstream_gene_variant,,ENST00000599826,;FUT1,downstream_gene_variant,,ENST00000597220,;IZUMO1,upstream_gene_variant,,ENST00000597553,;IZUMO1,upstream_gene_variant,,ENST00000595937,;IZUMO1,upstream_gene_variant,,ENST00000595517,;	uc002pkk.2	c.711C>T	1686/4246	2	2			c.711C>T						19	SNP	c.(709-711)GGC>GGT	20	20			ovary(1)	1	Broad	fucosyltransferase 1			49253828		0.657	ENSG00000174951	5995	g.chr19:49253828G>A	L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity							229.561346	KEEP	52	50	-1	57	63	52	50	-1	229.898002	57	63	0.452128	1	0	0	0	0	0	0	1	0	--	--		0	A				68	GBM-06-0747-TP	p.G237G	G	AGGCGCTGTCGCCCACCACAC	NM_000148	NP_000139	49253828	P19526	FUT1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)	4	1686	-	A	A		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	Silent	237			Lumenal (Potential).			
FUT1	0	broad.mit.edu	GRCh37	19	49253750	49253750	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2495-01	TCGA-32-2495-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310160.3:c.789C>T	p.Asn263=	p.N263=	ENST00000310160	NM_000148.3	263	aaC/aaT	0			1			A	N	uc002pkk.2	protein_coding	YES	CCDS12733.1			789/1098									ovary(1)	1	c.(787-789)AAC>AAT			Pfam_domain:PF01531,hmmpanther:PTHR11927,hmmpanther:PTHR11927:SF4	fucosyltransferase 1				ENSP00000312021		4-Apr									COSM3404433	4-Apr	.		ENST00000310160	Transcript	1		L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity	ENSG00000174951	g.chr19:49253750G>A	4012			LOW								--	--	1																																			1	1			p.N263N	NM_000148	NP_000139			1	FUT1_HUMAN	FUT1	HGNC	P19526	FUT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)	Q6IZA2_HUMAN,Q76N68_HUMAN,Q5U805_HUMAN,E3UTT6_HUMAN,A7XM32_HUMAN,A7XM28_HUMAN		4	1764	-		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	UPI00000338F8	263			Lumenal (Potential).		SNV	FUT1,synonymous_variant,p.=,ENST00000310160,NM_000148.3;IZUMO1,upstream_gene_variant,,ENST00000332955,NM_182575.2;IZUMO1,upstream_gene_variant,,ENST00000602105,;FUT1,downstream_gene_variant,,ENST00000601931,;FUT1,downstream_gene_variant,,ENST00000601988,;FUT1,downstream_gene_variant,,ENST00000599826,;FUT1,downstream_gene_variant,,ENST00000597220,;IZUMO1,upstream_gene_variant,,ENST00000597553,;IZUMO1,upstream_gene_variant,,ENST00000595937,;IZUMO1,upstream_gene_variant,,ENST00000595517,;	uc002pkk.2	c.789C>T	1764/4246	2	2			c.789C>T						19	SNP	c.(787-789)AAC>AAT	46	46			ovary(1)	1	Broad	fucosyltransferase 1			49253750		0.617	ENSG00000174951	5995	g.chr19:49253750G>A	L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity							125.929014	KEEP	27	31	-1	92	88	27	31	-1	137.517952	92	88	0.25	1	0	0	0	0	0	0	1	0	--	--		0	A				237	GBM-32-2495-TP	p.N263N	G	ACTCCATGCCGTTGCTGGTGA	NM_000148	NP_000139	49253750	P19526	FUT1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)	4	1764	-	A	A		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	Silent	263			Lumenal (Potential).			
FUT3	0	broad.mit.edu	GRCh37	19	5844200	5844200	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303225.6:c.651C>T	p.Leu217=	p.L217=	ENST00000303225	NM_000149.3	217	ctC/ctT	0			1			A	L	uc002mdk.2	protein_coding	YES	CCDS12153.1			651/1086										0	c.(649-651)CTC>CTT			Pfam_domain:PF00852,hmmpanther:PTHR11929,hmmpanther:PTHR11929:SF137,Superfamily_domains:SSF53756	fucosyltransferase 3				ENSP00000305603		3-Mar									COSM3404716	3-Mar	.		ENST00000303225	Transcript	1		protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity	ENSG00000171124	g.chr19:5844200G>A	4014			LOW								--	--	1																																		FUT3_uc002mdm.2_Silent_p.L217L|FUT3_uc002mdj.2_Silent_p.L217L|FUT3_uc002mdl.2_Silent_p.L217L	1	1			p.L217L	NM_001097641	NP_001091110			1	FUT3_HUMAN	FUT3	HGNC	P21217	FUT3_HUMAN			K7ES24_HUMAN,K7EQ20_HUMAN,K7ENT3_HUMAN		2	748	-			UPI000013E879	217			Lumenal (Potential).		SNV	FUT3,synonymous_variant,p.=,ENST00000303225,NM_000149.3;FUT3,synonymous_variant,p.=,ENST00000589620,NM_001097639.1;FUT3,synonymous_variant,p.=,ENST00000589918,NM_001097640.1;FUT3,synonymous_variant,p.=,ENST00000458379,NM_001097641.1;FUT6,upstream_gene_variant,,ENST00000318336,NM_000150.2;FUT6,upstream_gene_variant,,ENST00000286955,NM_001040701.1;FUT6,upstream_gene_variant,,ENST00000524754,;FUT3,downstream_gene_variant,,ENST00000585715,;FUT3,downstream_gene_variant,,ENST00000587183,;FUT3,downstream_gene_variant,,ENST00000587048,;FUT3,downstream_gene_variant,,ENST00000589714,;AC024592.9,upstream_gene_variant,,ENST00000589276,;FUT3,downstream_gene_variant,,ENST00000593144,;FUT3,downstream_gene_variant,,ENST00000588539,;FUT6,upstream_gene_variant,,ENST00000591079,;	uc002mdk.2	c.651C>T	1286/2584	2	2			c.651C>T						19	SNP	c.(649-651)CTC>CTT	47	47				0	Broad	fucosyltransferase 3			5844200		0.622	ENSG00000171124	5999	g.chr19:5844200G>A	protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity	Esophageal Squamous(82;745 1728 24593 44831)			Esophageal Squamous(82;745 1728 24593 44831)			102.60441	KEEP	28	29	-1	130	99	28	29	-1	114.406257	130	99	0.236559	1	0	0	0	0	0	0	1	0	--	--		0	A			FUT3_uc002mdm.2_Silent_p.L217L|FUT3_uc002mdj.2_Silent_p.L217L|FUT3_uc002mdl.2_Silent_p.L217L	220	GBM-28-5213-TP	p.L217L	G	CGTCCACCTTGAGATGAGCCT	NM_001097641	NP_001091110	5844200	P21217	FUT3_HUMAN	0			2	748	-	A	A			Silent	217			Lumenal (Potential).			
FUT3	2525		GRCh37	19	5844280	5844280	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0240-01	TCGA-06-0240-01																				ENST00000303225.6:c.571G>A	p.Glu191Lys	p.E191K	ENST00000303225	NM_000149.3	191	Gag/Aag	0																																																																																																																																																																																																																																												
FUT3	2525		GRCh37	19	5844141	5844141	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000303225.6:c.710C>T	p.Thr237Met	p.T237M	ENST00000303225	NM_000149.3	237	aCg/aTg	0																																																																																																																																																																																																																																												
FUT4	0	broad.mit.edu	GRCh37	11	94278241	94278244	+	frameshift_variant	Frame_Shift_Del	DEL	CAAC	CAAC	-			TCGA-28-5216-01	TCGA-28-5216-01	CAAC	CAAC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358752.2:c.942_945delCAAC	p.Asn315GlyfsTer46	p.N315Gfs*46	ENST00000358752	NM_002033.3	314	ttCAAC/tt	0			1			-	FN/X	uc001pez.2	protein_coding	YES	CCDS8301.1			942-945/1593									skin(1)	1	c.(940-945)TTCAACfs			hmmpanther:PTHR11929:SF132,hmmpanther:PTHR11929,Pfam_domain:PF00852,Superfamily_domains:SSF53756	fucosyltransferase 4				ENSP00000351602		1-Jan										1-Jan	.		ENST00000358752	Transcript			L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity	ENSG00000196371	g.chr11:94278241_94278244delCAAC	4015			HIGH								--	--	1																																		PIWIL4_uc010rue.1_Intron|PIWIL4_uc009ywk.1_5'Flank		1			p.F314fs	NM_002033	NP_002024				FUT4_HUMAN	FUT4	HGNC	P22083	FUT4_HUMAN					1	1225_1228	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	UPI000002CC7E	314_315			Lumenal (Potential).		deletion	FUT4,frameshift_variant,p.Asn315GlyfsTer46,ENST00000358752,NM_002033.3;RP11-867G2.8,downstream_gene_variant,,ENST00000536540,;RP11-867G2.8,downstream_gene_variant,,ENST00000537874,;PIWIL4,intron_variant,,ENST00000543336,;PIWIL4,upstream_gene_variant,,ENST00000446230,;	uc001pez.2	c.942_945delCAAC	1225-1228/6047	5	5			c.942_945delCAAC						11	DEL	c.(940-945)TTCAACfs	1	1			skin(1)	1	Broad	fucosyltransferase 4			94278244		0.681	ENSG00000196371	6000	g.chr11:94278241_94278244delCAAC	L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity																				0.23	1	1	0	1	0	0	0	0	0	--	--		0	-			PIWIL4_uc010rue.1_Intron|PIWIL4_uc009ywk.1_5'Flank	223	GBM-28-5216-TP	p.F314fs	CAAC	GTAACCTCTTCAACTGGACGCTCT	NM_002033	NP_002024	94278241	P22083	FUT4_HUMAN	0			1	1225_1228	+	-	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	Frame_Shift_Del	314_315			Lumenal (Potential).			
FUT5	2527	broad.mit.edu	GRCh37	19	5867712	5867712	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-02-0003-01	TCGA-02-0003-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252675.5:c.25C>A	p.Pro9Thr	p.P9T	ENST00000252675		9	Cca/Aca	0			1			T	P/T	uc002mdo.3	protein_coding	YES	CCDS12154.1			25/1125										0	c.(25-27)CCA>ACA				fucosyltransferase 5				ENSP00000252675		5-May									COSM3748077	5-May	.		ENST00000252675	Transcript			L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	ENSG00000130383	g.chr19:5867712G>T	4016			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=FUT5_HUMAN&rb=1&re=42&var=P9T	NA	getma.org/?cm=var&var=hg19,19,5867712,G,T&fts=all	P9T	--	--	1																																		FUT5_uc010duo.2_Missense_Mutation_p.P9T	1	1		benign(0.003)	p.P9T	NM_002034	NP_002025		tolerated(0.57)	1	FUT5_HUMAN	FUT5	HGNC	Q11128	FUT5_HUMAN			K7ENC0_HUMAN		2	113	-			UPI000013CD7B	9			Cytoplasmic (Potential).		SNV	FUT5,missense_variant,p.Pro9Thr,ENST00000252675,;FUT5,missense_variant,p.Pro9Thr,ENST00000588525,NM_002034.2;AC024592.12,missense_variant,p.Ala141Asp,ENST00000586349,;AC024592.12,missense_variant,p.Ala116Asp,ENST00000585661,;AC024592.12,3_prime_UTR_variant,,ENST00000592091,;	uc002mdo.3	c.25C>A	588/2118	1	1			c.25C>A						19	SNP	c.(25-27)CCA>ACA	3	3				0	Broad	fucosyltransferase 5			5867712		0.607	ENSG00000130383	6001	g.chr19:5867712G>T	L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity							0.992501	KEEP	1	4	0.2	42	48	1	4	0.2	7.250695	42	48	0.116279	1	0	0	0	0	1	0	0	0	--	--		0	T			FUT5_uc010duo.2_Missense_Mutation_p.P9T	1	GBM-02-0003-TP	p.P9T	G	AGCCACTGTGGCTTGGCTGGG	NM_002034	NP_002025	5867712	Q11128	FUT5_HUMAN	0			2	113	-	T	T			Missense_Mutation	9			Cytoplasmic (Potential).			
FUT5	2527	broad.mit.edu	GRCh37	19	5867028	5867028	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6388-01	TCGA-06-6388-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252675.5:c.709C>T	p.Arg237Cys	p.R237C	ENST00000252675		237	Cgc/Tgc	0			1			A	R/C	uc002mdo.3	protein_coding	YES	CCDS12154.1			709/1125										0	c.(709-711)CGC>TGC			Pfam_domain:PF00852,hmmpanther:PTHR11929,hmmpanther:PTHR11929:SF137,Superfamily_domains:SSF53756	fucosyltransferase 5				ENSP00000252675		5-May	4.13E-05	0.000104		0.000232		3.09E-05			rs200537067,COSM3404721	5-May	.		ENST00000252675	Transcript			L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	ENSG00000130383	g.chr19:5867028G>A	4016			MODERATE		2.985	medium	getma.org/?cm=msa&ty=f&p=FUT5_HUMAN&rb=13&re=374&var=R237C	NA	getma.org/?cm=var&var=hg19,19,5867028,G,A&fts=all	R237C	--	--	1																																		FUT5_uc010duo.2_Missense_Mutation_p.R237C	0,1	1		possibly_damaging(0.66)	p.R237C	NM_002034	NP_002025		deleterious(0)	0,1	FUT5_HUMAN	FUT5	HGNC	Q11128	FUT5_HUMAN			K7ENC0_HUMAN		2	797	-			UPI000013CD7B	237			Lumenal (Potential).		SNV	FUT5,missense_variant,p.Arg237Cys,ENST00000252675,;FUT5,missense_variant,p.Arg237Cys,ENST00000588525,NM_002034.2;AC024592.12,downstream_gene_variant,,ENST00000586349,;AC024592.12,downstream_gene_variant,,ENST00000585661,;AC024592.12,3_prime_UTR_variant,,ENST00000592091,;	uc002mdo.3	c.709C>T	1272/2118	2	2			c.709C>T						19	SNP	c.(709-711)CGC>TGC	25	25				0	Broad	fucosyltransferase 5			5867028		0.622	ENSG00000130383	6001	g.chr19:5867028G>A	L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity							79.688289	KEEP	24	26	-1	69	59	24	26	-1	81.061916	69	59	0.364706	1	0	0	0	0	1	0	0	0	--	--		0	A			FUT5_uc010duo.2_Missense_Mutation_p.R237C	104	GBM-06-6388-TP	p.R237C	G	TTGTGGGAGCGTCCGTACACG	NM_002034	NP_002025	5867028	Q11128	FUT5_HUMAN	0			2	797	-	A	A			Missense_Mutation	237			Lumenal (Potential).			
FUT5	2527		GRCh37	19	5867010	5867010	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000252675.5:c.727C>G	p.Pro243Ala	p.P243A	ENST00000252675		243	Ccc/Gcc	0																																																																																																																																																																																																																																												
FUT6	2528		GRCh37	19	5832254	5832254	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000318336.4:c.325C>G	p.His109Asp	p.H109D	ENST00000318336	NM_000150.2	109	Cac/Gac	0																																																																																																																																																																																																																																												
FUT7	0	broad.mit.edu	GRCh37	9	139925805	139925805	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1456-01	TCGA-14-1456-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314412.6:c.386G>A	p.Gly129Asp	p.G129D	ENST00000314412	NM_004479.3	129	gGc/gAc	0			1			T	G/D	uc004ckq.2	protein_coding	YES	CCDS7022.1			386/1029										0	c.(385-387)GGC>GAC			hmmpanther:PTHR11929,hmmpanther:PTHR11929:SF12,Pfam_domain:PF00852,Superfamily_domains:SSF53756	fucosyltransferase 7				ENSP00000318142		2-Feb									COSM3413477	2-Feb	.		ENST00000314412	Transcript			L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	ENSG00000180549	g.chr9:139925805C>T	4018			MODERATE		0.045	neutral	getma.org/?cm=msa&ty=f&p=FUT7_HUMAN&rb=10&re=341&var=G129D	NA	getma.org/?cm=var&var=hg19,9,139925805,C,T&fts=all	G129D	--	--	1																																		ABCA2_uc004ckm.1_5'Flank|C9orf139_uc004ckp.1_Intron	1	1		benign(0.066)	p.G129D	NM_004479	NP_004470		tolerated(0.29)	1	FUT7_HUMAN	FUT7	HGNC	Q11130	FUT7_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)			2	1235	-	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	UPI000012ADAF	129			Lumenal (Potential).		SNV	FUT7,missense_variant,p.Gly129Asp,ENST00000314412,NM_004479.3;C9orf139,intron_variant,,ENST00000314330,NM_207511.1;ABCA2,upstream_gene_variant,,ENST00000265662,;ABCA2,upstream_gene_variant,,ENST00000371605,;ABCA2,upstream_gene_variant,,ENST00000341511,NM_212533.2,NM_001606.4;ABCA2,upstream_gene_variant,,ENST00000492260,;ABCA2,upstream_gene_variant,,ENST00000398207,;ABCA2,upstream_gene_variant,,ENST00000459850,;ABCA2,upstream_gene_variant,,ENST00000487109,;ABCA2,upstream_gene_variant,,ENST00000464876,;ABCA2,upstream_gene_variant,,ENST00000494046,;ABCA2,upstream_gene_variant,,ENST00000476211,;ABCA2,upstream_gene_variant,,ENST00000425423,;	uc004ckq.2	c.386G>A	1405/2584	2	2			c.386G>A						9	SNP	c.(385-387)GGC>GAC	29	29				0	Broad	fucosyltransferase 7			139925805		0.711	ENSG00000180549	6003	g.chr9:139925805C>T	L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity							6.327493	KEEP	1	2	-1	7	7	1	2	-1	7.184902	7	7	0.230769	1	0	0	0	0	1	0	0	0	--	--		0	T			ABCA2_uc004ckm.1_5'Flank|C9orf139_uc004ckp.1_Intron	146	GBM-14-1456-TP	p.G129D	C	GTGGCTGAGGCCGTGGGTGTG	NM_004479	NP_004470	139925805	Q11130	FUT7_HUMAN	0	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	2	1235	-	T	T	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	Missense_Mutation	129			Lumenal (Potential).			
FUT8	2530	broad.mit.edu	GRCh37	14	66028372	66028372	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0749-01	TCGA-06-0749-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360689.5:c.91C>T	p.Arg31Ter	p.R31*	ENST00000360689	NM_178155.2	31	Cga/Tga	0			1			T	R/*	uc001xin.2	protein_coding	YES	CCDS9775.1			91/1728									ovary(1)	1	c.(91-93)CGA>TGA			hmmpanther:PTHR13132,PIRSF_domain:PIRSF000472	fucosyltransferase 8 isoform a				ENSP00000353910		11-Mar									COSM2151909,COSM2151910	11-Mar	.		ENST00000360689	Transcript			in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	ENSG00000033170	g.chr14:66028372C>T	4019			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,14,66028372,C,T&fts=all	R31*	--	--	1																																		FUT8_uc001xio.2_Nonsense_Mutation_p.R31*|FUT8_uc010tsp.1_Intron|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Nonsense_Mutation_p.R31*|FUT8_uc001xiq.2_Intron	1,1	1			p.R31*	NM_178155	NP_835368			1,1	FUT8_HUMAN	FUT8	HGNC	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	Q546E0_HUMAN,G3V5Z4_HUMAN,G3V5E3_HUMAN,G3V530_HUMAN,G3V509_HUMAN,G3V4A8_HUMAN		3	1288	+			UPI000000DCC9	31			Lumenal (Potential).		SNV	FUT8,stop_gained,p.Arg31Ter,ENST00000360689,NM_178155.2,NM_004480.4;FUT8,stop_gained,p.Arg31Ter,ENST00000394586,NM_178156.2;FUT8,stop_gained,p.Arg31Ter,ENST00000394585,;FUT8,stop_gained,p.Arg31Ter,ENST00000557338,;FUT8,stop_gained,p.Arg31Ter,ENST00000554667,;FUT8,stop_gained,p.Arg31Ter,ENST00000555559,;FUT8,stop_gained,p.Arg31Ter,ENST00000554610,;FUT8,intron_variant,,ENST00000358307,;FUT8,intron_variant,,ENST00000557164,;FUT8,downstream_gene_variant,,ENST00000553924,;FUT8,downstream_gene_variant,,ENST00000556518,;FUT8,stop_gained,p.Arg31Ter,ENST00000342677,;	uc001xin.2	c.91C>T	1818/5166	5	1			c.91C>T						14	SNP	c.(91-93)CGA>TGA	4	4			ovary(1)	1	Broad	fucosyltransferase 8 isoform a			66028372		0.458	ENSG00000033170	6004	g.chr14:66028372C>T	in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding							106.90877	KEEP	26	16	-1	63	41	26	16	-1	112.484817	63	41	0.28777	1	0	0	0	0	0	1	0	0	--	--		0	T			FUT8_uc001xio.2_Nonsense_Mutation_p.R31*|FUT8_uc010tsp.1_Intron|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Nonsense_Mutation_p.R31*|FUT8_uc001xiq.2_Intron	69	GBM-06-0749-TP	p.R31*	C	TCACTTGGTACGAGATAATGA	NM_178155	NP_835368	66028372	Q9BYC5	FUT8_HUMAN	0		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	3	1288	+	T	T			Nonsense_Mutation	31			Lumenal (Potential).			
FXN	0	broad.mit.edu	GRCh37	9	71687595	71687595	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-19-2629-01	TCGA-19-2629-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377270.3:c.550G>T	p.Glu184Ter	p.E184*	ENST00000377270	NM_000144.4	184	Gag/Tag	0			1			T	E/*	uc004aha.2	protein_coding	YES	CCDS6626.1			550/633										0	c.(550-552)GAG>TAG			Gene3D:3.30.920.10,Pfam_domain:PF01491,PROSITE_profiles:PS50810,hmmpanther:PTHR16821,hmmpanther:PTHR16821:SF0,Low_complexity_(Seg):seg,Superfamily_domains:SSF55387,TIGRFAM_domain:TIGR03421,TIGRFAM_domain:TIGR03422	frataxin isoform 1 preproprotein				ENSP00000366482		5-May									COSM3413696	5-May	.		ENST00000377270	Transcript	1		cellular iron ion homeostasis|cellular response to hydrogen peroxide|heme biosynthetic process|ion transport|iron incorporation into metallo-sulfur cluster|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity|protein autoprocessing|regulation of ferrochelatase activity|response to iron ion	cytosol|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferric iron binding|ferrous iron binding|ferroxidase activity|iron chaperone activity|protein binding	ENSG00000165060	g.chr9:71687595G>T	3951			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,9,71687595,G,T&fts=all	E184*	--	--	1																																		FXN_uc011lrr.1_Intron|FXN_uc004agz.2_Missense_Mutation_p.M186I	1	1			p.E184*	NM_000144	NP_000135			1	FRDA_HUMAN	FXN	HGNC	Q16595	FRDA_HUMAN			C9JAX1_HUMAN		5	770	+			UPI0000062306	184					SNV	FXN,stop_gained,p.Glu184Ter,ENST00000377270,NM_000144.4;FXN,stop_gained,p.Glu109Ter,ENST00000498653,;FXN,stop_gained,p.Glu82Ter,ENST00000484259,;FXN,missense_variant,p.Met186Ile,ENST00000396366,NM_181425.2;FXN,intron_variant,,ENST00000396364,NM_001161706.1;	uc004aha.2	c.550G>T	1074/2608	5	1			c.550G>T						9	SNP	c.(550-552)GAG>TAG	16	16				0	Broad	frataxin isoform 1 preproprotein			71687595		0.498	ENSG00000165060	6008	g.chr9:71687595G>T	cellular iron ion homeostasis|cellular response to hydrogen peroxide|heme biosynthetic process|ion transport|iron incorporation into metallo-sulfur cluster|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity|protein autoprocessing|regulation of ferrochelatase activity|response to iron ion	cytosol|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferric iron binding|ferrous iron binding|ferroxidase activity|iron chaperone activity|protein binding							43.665204	KEEP	15	11	0.576923077	57	81	15	11	0.576923077	61.270412	57	81	0.158228	1	0	0	0	0	0	1	0	0	--	--		0	T			FXN_uc011lrr.1_Intron|FXN_uc004agz.2_Missense_Mutation_p.M186I	166	GBM-19-2629-TP	p.E184*	G	GTCCCTCCATGAGCTGCTGGC	NM_000144	NP_000135	71687595	Q16595	FRDA_HUMAN	0			5	770	+	T	T			Nonsense_Mutation	184						
FXR1	0	broad.mit.edu	GRCh37	3	180651171	180651172	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	AT	AT	-			TCGA-14-1043-01	TCGA-14-1043-01	AT	AT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357559.4:c.102_103delTA	p.Asn34LysfsTer11	p.N34Kfs*11	ENST00000357559	NM_001013438.2	34	aAT/a	0			1			-	N/X	uc003fkq.2	protein_coding	YES	CCDS3238.1			101-102/1866									breast(1)	1	c.(100-102)AATfs			PROSITE_profiles:PS51641,hmmpanther:PTHR10603,hmmpanther:PTHR10603:SF6	fragile X mental retardation-related protein 1				ENSP00000350170		17-Feb										17-Feb	.		ENST00000357559	Transcript			apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		ENSG00000114416	g.chr3:180651171_180651172delAT	4023	1		HIGH								--	--	1																																		FXR1_uc003fkp.2_5'UTR|FXR1_uc003fkr.2_Frame_Shift_Del_p.N34fs|FXR1_uc011bqj.1_Intron|FXR1_uc003fks.2_5'UTR|FXR1_uc011bqk.1_Intron|FXR1_uc011bql.1_Frame_Shift_Del_p.N21fs		1			p.N34fs	NM_005087	NP_005078				FXR1_HUMAN	FXR1	HGNC	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		C9JZE0_HUMAN,C9JY20_HUMAN,C9J5B4_HUMAN,C9IZ22_HUMAN		2	123_124	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		UPI000013EA6E	34					deletion	FXR1,frameshift_variant,p.Asn34LysfsTer11,ENST00000357559,NM_001013438.2,NM_005087.3;FXR1,frameshift_variant,p.Asn34LysfsTer11,ENST00000445140,;FXR1,frameshift_variant,p.Asn21LysfsTer11,ENST00000480918,;FXR1,frameshift_variant,p.Asn38LysfsTer11,ENST00000484042,;FXR1,splice_region_variant,,ENST00000305586,NM_001013439.2;FXR1,splice_region_variant,,ENST00000465551,;FXR1,splice_region_variant,,ENST00000484790,;FXR1,intron_variant,,ENST00000468861,;FXR1,intron_variant,,ENST00000491062,;FXR1,intron_variant,,ENST00000484958,;FXR1,intron_variant,,ENST00000469882,;FXR1,splice_region_variant,,ENST00000475315,;FXR1,splice_region_variant,,ENST00000472339,;FXR1,splice_region_variant,,ENST00000479176,;FXR1,splice_region_variant,,ENST00000461801,;	uc003fkq.2	c.101_102delAT	485-486/8711	5	5			c.101_102delAT						3	DEL	c.(100-102)AATfs	49	49			breast(1)	1	Broad	fragile X mental retardation-related protein 1			180651172		0.332	ENSG00000114416	6009	g.chr3:180651171_180651172delAT	apoptosis|cell differentiation|muscle organ development	nucleolus|polysome																					0.21	1	1	0	1	0	0	0	0	0	--	--		0	-			FXR1_uc003fkp.2_5'UTR|FXR1_uc003fkr.2_Frame_Shift_Del_p.N34fs|FXR1_uc011bqj.1_Intron|FXR1_uc003fks.2_5'UTR|FXR1_uc011bqk.1_Intron|FXR1_uc011bql.1_Frame_Shift_Del_p.N21fs	143	GBM-14-1043-TP	p.N34fs	AT	GTTTTTGAAAATAAGTAAGTTA	NM_005087	NP_005078	180651171	P51114	FXR1_HUMAN	0	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		2	123_124	+	-	-	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Frame_Shift_Del	34						
FXR2	9513	broad.mit.edu	GRCh37	17	7495610	7495610	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0750-01	TCGA-06-0750-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000250113.7:c.1888C>T	p.Arg630Cys	p.R630C	ENST00000250113	NM_004860.3	630	Cgc/Tgc	0			1			A	R/C	uc002gia.1	protein_coding	YES	CCDS45604.1			1888/2022										0	c.(1888-1890)CGC>TGC			hmmpanther:PTHR10603,hmmpanther:PTHR10603:SF3	fragile X mental retardation syndrome related				ENSP00000250113		16/17	1.65E-05					3.00E-05			rs778721641,COSM984803	16/17	.		ENST00000250113	Transcript				cytosolic large ribosomal subunit	protein binding|RNA binding	ENSG00000129245	g.chr17:7495610G>A	4024			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=FXR2_HUMAN&rb=529&re=673&var=R630C	NA	getma.org/?cm=var&var=hg19,17,7495610,G,A&fts=all	R630C	--	--	1																																		MPDU1_uc010vuc.1_Intron|SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank	0,1	1		benign(0.276)	p.R630C	NM_004860	NP_004851		deleterious_low_confidence(0.02)	0,1	FXR2_HUMAN	FXR2	HGNC	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)			16	2115	-			UPI0000072727	630					SNV	FXR2,missense_variant,p.Arg630Cys,ENST00000250113,NM_004860.3;MPDU1,intron_variant,,ENST00000423172,;MPDU1,intron_variant,,ENST00000584378,;MPDU1,downstream_gene_variant,,ENST00000250124,NM_004870.3;SOX15,upstream_gene_variant,,ENST00000250055,NM_006942.1;MPDU1,downstream_gene_variant,,ENST00000396501,;SOX15,upstream_gene_variant,,ENST00000570788,;SOX15,upstream_gene_variant,,ENST00000538513,;MPDU1,downstream_gene_variant,,ENST00000585217,;FXR2,non_coding_transcript_exon_variant,,ENST00000573057,;MPDU1,downstream_gene_variant,,ENST00000577088,;MPDU1,downstream_gene_variant,,ENST00000572836,;MPDU1,downstream_gene_variant,,ENST00000571877,;MPDU1,downstream_gene_variant,,ENST00000572936,;MPDU1,downstream_gene_variant,,ENST00000571822,;MPDU1,downstream_gene_variant,,ENST00000581886,;MPDU1,downstream_gene_variant,,ENST00000572719,;MPDU1,downstream_gene_variant,,ENST00000574558,;MPDU1,downstream_gene_variant,,ENST00000359822,;MPDU1,downstream_gene_variant,,ENST00000576272,;FXR2,downstream_gene_variant,,ENST00000574490,;MPDU1,downstream_gene_variant,,ENST00000580834,;MPDU1,downstream_gene_variant,,ENST00000570458,;FXR2,downstream_gene_variant,,ENST00000573957,;FXR2,downstream_gene_variant,,ENST00000571079,;	uc002gia.1	c.1888C>T	2223/2957	1	1			c.1888C>T						17	SNP	c.(1888-1890)CGC>TGC	59	59				0	Broad	fragile X mental retardation syndrome related			7495610		0.522	ENSG00000129245	6010	g.chr17:7495610G>A		cytosolic large ribosomal subunit	protein binding|RNA binding							169.187741	KEEP	44	30	-1	81	74	44	30	-1	174.795386	81	74	0.319588	1	0	0	0	0	1	0	0	0	--	--		0	A			MPDU1_uc010vuc.1_Intron|SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank	70	GBM-06-0750-TP	p.R630C	G	GGTTTAGTGCGTTCCAGGGGT	NM_004860	NP_004851	7495610	P51116	FXR2_HUMAN	0		READ - Rectum adenocarcinoma(115;0.17)	16	2115	-	A	A			Missense_Mutation	630						
FXR2	9513	broad.mit.edu	GRCh37	17	7507356	7507357	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C			TCGA-06-0881-01	TCGA-06-0881-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000250113.7:c.270dup	p.Leu91AlafsTer15	p.L91Afs*15	ENST00000250113	NM_004860.3	90	-/G	0			1			C	-/X	uc002gia.1	protein_coding	YES	CCDS45604.1			270-271/2022								p.?(1)		0	c.(268-273)TGGCTGfs			Pfam_domain:PF05641,PROSITE_profiles:PS51641,hmmpanther:PTHR10603,hmmpanther:PTHR10603:SF3	fragile X mental retardation syndrome related				ENSP00000250113		17-Apr										17-Apr	.		ENST00000250113	Transcript				cytosolic large ribosomal subunit	protein binding|RNA binding	ENSG00000129245	g.chr17:7507356_7507357insC	4024			HIGH								--	--	1																																		FXR2_uc010vud.1_Frame_Shift_Ins_p.W90fs		1			p.W90fs	NM_004860	NP_004851				FXR2_HUMAN	FXR2	HGNC	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)			4	497_498	-			UPI0000072727	90_91					insertion	FXR2,frameshift_variant,p.Leu91AlafsTer15,ENST00000250113,NM_004860.3;FXR2,frameshift_variant,p.Leu48AlafsTer15,ENST00000571597,;FXR2,non_coding_transcript_exon_variant,,ENST00000576693,;FXR2,upstream_gene_variant,,ENST00000573957,;	uc002gia.1	c.270_271insG	605-606/2957	5	5			c.270_271insG						17	INS	c.(268-273)TGGCTGfs	43	43		p.?(1)		0	Broad	fragile X mental retardation syndrome related			7507357		0.441	ENSG00000129245	6010	g.chr17:7507356_7507357insC		cytosolic large ribosomal subunit	protein binding|RNA binding																				0.55	1	0	0	1	1	0	0	0	0	--	--		0	C			FXR2_uc010vud.1_Frame_Shift_Ins_p.W90fs	76	GBM-06-0881-TP	p.W90fs	-	ACCCGGGCCAGCCACCAGCCAC	NM_004860	NP_004851	7507356	P51116	FXR2_HUMAN	0		READ - Rectum adenocarcinoma(115;0.17)	4	497_498	-	C	C			Frame_Shift_Ins	90_91						
FYB	0	broad.mit.edu	GRCh37	5	39202820	39202820	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6698-01	TCGA-06-6698-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000351578.6:c.243G>A	p.Pro81=	p.P81=	ENST00000351578	NM_199335.3	81	ccG/ccA	0	T:0.0005	T:0	1	T:0		T	P	uc003jls.2	protein_coding		CCDS47200.1			243/2352									ovary(2)	2	c.(241-243)CCG>CCA			Low_complexity_(Seg):seg,hmmpanther:PTHR16830:SF10,hmmpanther:PTHR16830	FYN binding protein (FYB-120/130) isoform 2		T:0.001	T:0	ENSP00000316460	T:0	18-Feb	0.000298	0.000409	0.00157	0.000471	0.000152	7.52E-05	0.00112	0.000182	rs370543019,COSM2689665,COSM2689664,COSM2689663,COSM2689666	18-Feb	common_variant		ENST00000351578	Transcript		T:0.0002	cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	ENSG00000082074	g.chr5:39202820C>T	4036			LOW								--	--	1																																		FYB_uc003jlt.2_Silent_p.P81P|FYB_uc003jlu.2_Silent_p.P81P|FYB_uc011cpl.1_Silent_p.P91P	0,1,1,1,1				p.P81P	NM_199335	NP_955367	T:0		0,1,1,1,1	FYB_HUMAN	FYB	HGNC	O15117	FYB_HUMAN	Epithelial(62;0.235)		D6RFJ5_HUMAN,D6RER7_HUMAN,D6RC38_HUMAN,D6RAE8_HUMAN		1	310	-	all_lung(31;0.000343)		UPI000020C9D5	81					SNV	FYB,synonymous_variant,p.=,ENST00000351578,NM_199335.3;FYB,synonymous_variant,p.=,ENST00000505428,NM_001465.4;FYB,synonymous_variant,p.=,ENST00000540520,NM_001243093.1;FYB,synonymous_variant,p.=,ENST00000512982,;FYB,synonymous_variant,p.=,ENST00000515010,;FYB,synonymous_variant,p.=,ENST00000510188,;FYB,synonymous_variant,p.=,ENST00000512138,;FYB,downstream_gene_variant,,ENST00000506557,;FYB,downstream_gene_variant,,ENST00000504542,;FYB,downstream_gene_variant,,ENST00000509072,;	uc003jls.2	c.243G>A	434/4750	1	1			c.243G>A						5	SNP	c.(241-243)CCG>CCA	13	13			ovary(2)	2	Broad	FYN binding protein (FYB-120/130) isoform 2			39202820		0.552	ENSG00000082074	6018	g.chr5:39202820C>T	cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding							103.506043	KEEP	17	19	-1	7	8	17	19	-1	105.598532	7	8	0.723404	1	0	0	0	0	0	0	1	0	--	--		0	T			FYB_uc003jlt.2_Silent_p.P81P|FYB_uc003jlu.2_Silent_p.P81P|FYB_uc011cpl.1_Silent_p.P91P	112	GBM-06-6698-TP	p.P81P	C	GCTTTAGAAACGGGGGCTTGG	NM_199335	NP_955367	39202820	O15117	FYB_HUMAN	0	Epithelial(62;0.235)		1	310	-	T	T	all_lung(31;0.000343)		Silent	81						
FYB	0	broad.mit.edu	GRCh37	5	39153687	39153687	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-87-5896-01	TCGA-87-5896-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000351578.6:c.1155G>A	p.Thr385=	p.T385=	ENST00000351578	NM_199335.3	385	acG/acA	0	T:0		1			T	T	uc003jls.2	protein_coding		CCDS47200.1			1155/2352									ovary(2)	2	c.(1153-1155)ACG>ACA			hmmpanther:PTHR16830:SF10,hmmpanther:PTHR16830	FYN binding protein (FYB-120/130) isoform 2			T:0.0002	ENSP00000316460		18-Mar	3.30E-05		8.73E-05			4.51E-05			rs375737931,COSM3410266,COSM3410265,COSM3410264,COSM3410267	18-Mar	.		ENST00000351578	Transcript			cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	ENSG00000082074	g.chr5:39153687C>T	4036			LOW								--	--	1																																		FYB_uc003jlt.2_Silent_p.T385T|FYB_uc003jlu.2_Silent_p.T385T|FYB_uc011cpl.1_Silent_p.T395T	0,1,1,1,1				p.T385T	NM_199335	NP_955367			0,1,1,1,1	FYB_HUMAN	FYB	HGNC	O15117	FYB_HUMAN	Epithelial(62;0.235)		D6RFJ5_HUMAN,D6RER7_HUMAN,D6RC38_HUMAN,D6RAE8_HUMAN		2	1222	-	all_lung(31;0.000343)		UPI000020C9D5	385			Interaction with SKAP1.		SNV	FYB,synonymous_variant,p.=,ENST00000351578,NM_199335.3;FYB,synonymous_variant,p.=,ENST00000505428,NM_001465.4;FYB,synonymous_variant,p.=,ENST00000512982,;FYB,synonymous_variant,p.=,ENST00000540520,NM_001243093.1;FYB,synonymous_variant,p.=,ENST00000515010,;	uc003jls.2	c.1155G>A	1346/4750	1	1			c.1155G>A						5	SNP	c.(1153-1155)ACG>ACA	13	13			ovary(2)	2	Broad	FYN binding protein (FYB-120/130) isoform 2			39153687		0.423	ENSG00000082074	6018	g.chr5:39153687C>T	cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding							72.628747	KEEP	18	8	-1	23	25	18	8	-1	73.747118	23	25	0.366197	1	0	0	0	0	0	0	1	0	--	--		0	T			FYB_uc003jlt.2_Silent_p.T385T|FYB_uc003jlu.2_Silent_p.T385T|FYB_uc011cpl.1_Silent_p.T395T	291	GBM-87-5896-TP	p.T385T	C	TTGAGTAAGACGTCTGGCCTT	NM_199335	NP_955367	39153687	O15117	FYB_HUMAN	0	Epithelial(62;0.235)		2	1222	-	T	T	all_lung(31;0.000343)		Silent	385			Interaction with SKAP1.			
FYCO1	0	broad.mit.edu	GRCh37	3	45996750	45996750	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs140583635		TCGA-26-5135-01	TCGA-26-5135-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296137.2:c.3935C>T	p.Ala1312Val	p.A1312V	ENST00000296137	NM_024513.3	1312	gCg/gTg	0	A:0		1			A	A/V	uc003cpb.3	protein_coding	YES	CCDS2734.1			3935/4437									central_nervous_system(1)	1	c.(3934-3936)GCG>GTG			hmmpanther:PTHR18851,hmmpanther:PTHR18851:SF12	FYVE and coiled-coil domain containing 1			A:0.0001	ENSP00000296137		14/18	3.29E-05	9.61E-05		0.000116		3.00E-05			rs140583635,COSM3067877	14/18	.		ENST00000296137	Transcript	1		transport	integral to membrane	metal ion binding|protein binding	ENSG00000163820	g.chr3:45996750G>A	14673			MODERATE		-1.5	neutral	getma.org/?cm=msa&ty=f&p=FYCO1_HUMAN&rb=1241&re=1368&var=A1312V	NA	getma.org/?cm=var&var=hg19,3,45996750,G,A&fts=all	A1312V	--	--	1																																		FYCO1_uc011bal.1_Missense_Mutation_p.A1312V	0,1	1		benign(0)	p.A1312V	NM_024513	NP_078789		tolerated(1)	0,1	FYCO1_HUMAN	FYCO1	HGNC	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	C9J2W6_HUMAN		14	4141	-			UPI000013E307	1312					SNV	FYCO1,missense_variant,p.Ala1312Val,ENST00000296137,NM_024513.3;FYCO1,missense_variant,p.Ala1312Val,ENST00000535325,;FYCO1,missense_variant,p.Ala101Val,ENST00000433878,;FYCO1,5_prime_UTR_variant,,ENST00000438446,;	uc003cpb.3	c.3935C>T	4141/8504	2	2			c.3935C>T						3	SNP	c.(3934-3936)GCG>GTG	25	25			central_nervous_system(1)	1	Broad	FYVE and coiled-coil domain containing 1			45996750		0.498	ENSG00000163820	6019	g.chr3:45996750G>A	transport	integral to membrane	metal ion binding|protein binding							-84.316083	KEEP	3	3	-1	199	193	3	3	-1	7.833206	199	193	0.017143	1	0	0	0	0	1	0	0	0	--	--		0	A			FYCO1_uc011bal.1_Missense_Mutation_p.A1312V	184	GBM-26-5135-TP	p.A1312V	G	CTGTTCAGCCGCATTTGGGTC	NM_024513	NP_078789	45996750	Q9BQS8	FYCO1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	14	4141	-	A	A			Missense_Mutation	1312						
FYN	2534		GRCh37	6	112015863	112015863	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000368678.4:c.1078A>G	p.Lys360Glu	p.K360E	ENST00000368678		360	Aaa/Gaa	0																																																																																																																																																																																																																																												
FZD1	0	broad.mit.edu	GRCh37	7	90894669	90894669	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-14-1823-01	TCGA-14-1823-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000287934.2:c.474A>T	p.Lys158Asn	p.K158N	ENST00000287934	NM_003505.1	158	aaA/aaT	0			1			T	K/N	uc003ula.2	protein_coding	YES	CCDS5620.1			474/1944										0	c.(472-474)AAA>AAT			Gene3D:1ijyA00,Pfam_domain:PF01392,PROSITE_profiles:PS50038,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF81,SMART_domains:SM00063,Superfamily_domains:SSF63501	frizzled 1 precursor				ENSP00000287934		1-Jan									COSM3412464	1-Jan	.		ENST00000287934	Transcript			autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	ENSG00000157240	g.chr7:90894669A>T	4038			MODERATE		0.99	low	getma.org/?cm=msa&ty=f&p=FZD1_HUMAN&rb=116&re=228&var=K158N	getma.org/pdb.php?prot=FZD1_HUMAN&from=116&to=228&var=K158N	getma.org/?cm=var&var=hg19,7,90894669,A,T&fts=all	K158N	--	--	1																																			1	1		probably_damaging(0.937)	p.K158N	NM_003505	NP_003496		tolerated(0.27)	1	FZD1_HUMAN	FZD1	HGNC	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)				1	887	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		UPI000005104D	158			FZ.|Extracellular (Potential).		SNV	FZD1,missense_variant,p.Lys158Asn,ENST00000287934,NM_003505.1;	uc003ula.2	c.474A>T	887/4341	1	1			c.474A>T						7	SNP	c.(472-474)AAA>AAT	8	8				0	Broad	frizzled 1 precursor			90894669		0.632	ENSG00000157240	6022	g.chr7:90894669A>T	autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			79			79	158.138194	KEEP	53	36	-1	231	200	53	36	-1	208.38169	231	200	0.170082	1	0	0	0	0	1	0	0	0	--	--		0	T				147	GBM-14-1823-TP	p.K158N	A	CTCTAGTGAAAGTGCAGTGTT	NM_003505	NP_003496	90894669	Q9UP38	FZD1_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.0134)		1	887	+	T	T	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		Missense_Mutation	158			FZ.|Extracellular (Potential).			
FZD1	0	broad.mit.edu	GRCh37	7	90895152	90895152	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-2575-01	TCGA-41-2575-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000287934.2:c.957G>A	p.Ser319=	p.S319=	ENST00000287934	NM_003505.1	319	tcG/tcA	0			1			A	S	uc003ula.2	protein_coding	YES	CCDS5620.1			957/1944										0	c.(955-957)TCG>TCA			Pfam_domain:PF01534,PROSITE_profiles:PS50261,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF81	frizzled 1 precursor				ENSP00000287934		1-Jan									COSM3412465	1-Jan	.		ENST00000287934	Transcript			autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	ENSG00000157240	g.chr7:90895152G>A	4038			LOW								--	--	1																																			1	1			p.S319S	NM_003505	NP_003496			1	FZD1_HUMAN	FZD1	HGNC	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)				1	1370	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		UPI000005104D	319			Extracellular (Potential).		SNV	FZD1,synonymous_variant,p.=,ENST00000287934,NM_003505.1;	uc003ula.2	c.957G>A	1370/4341	2	2			c.957G>A						7	SNP	c.(955-957)TCG>TCA	21	21				0	Broad	frizzled 1 precursor			90895152		0.617	ENSG00000157240	6022	g.chr7:90895152G>A	autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			79			79	125.687194	KEEP	31	23	-1	66	64	31	23	-1	132.629829	66	64	0.282209	1	0	0	0	0	0	0	1	0	--	--		0	A				253	GBM-41-2575-TP	p.S319S	G	TGCGCTTCTCGCGCACCTGGA	NM_003505	NP_003496	90895152	Q9UP38	FZD1_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.0134)		1	1370	+	A	A	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		Silent	319			Extracellular (Potential).			
FZD10	0	broad.mit.edu	GRCh37	12	130648665	130648665	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2624-01	TCGA-19-2624-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000229030.4:c.1178C>T	p.Ala393Val	p.A393V	ENST00000229030		393	gCg/gTg	0			1			T	A/V	uc001uii.2	protein_coding	YES	CCDS9267.1			1178/1746									lung(3)|breast(1)|central_nervous_system(1)	5	c.(1177-1179)GCG>GTG			PROSITE_profiles:PS50261,hmmpanther:PTHR11309:SF86,hmmpanther:PTHR11309,Pfam_domain:PF01534	frizzled 10 precursor				ENSP00000229030		1-Jan									COSM1360069	1-Jan	.		ENST00000229030	Transcript			brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	ENSG00000111432	g.chr12:130648665C>T	4039			MODERATE		2.885	medium	getma.org/?cm=msa&ty=f&p=FZD10_HUMAN&rb=217&re=541&var=A393V	NA	getma.org/?cm=var&var=hg19,12,130648665,C,T&fts=all	A393V	--	--	1																																		uc001uig.1_5'Flank|uc001uih.1_5'Flank	1	1		probably_damaging(0.998)	p.A393V	NM_007197	NP_009128		deleterious(0.04)	1	FZD10_HUMAN	FZD10	HGNC	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)			1	1634	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		UPI000004EC92	393			Extracellular (Potential).		SNV	FZD10,missense_variant,p.Ala393Val,ENST00000229030,;FZD10,synonymous_variant,p.=,ENST00000539839,NM_007197.3;FZD10-AS1,upstream_gene_variant,,ENST00000505807,;FZD10-AS1,upstream_gene_variant,,ENST00000509760,;FZD10-AS1,upstream_gene_variant,,ENST00000537095,;FZD10-AS1,upstream_gene_variant,,ENST00000542000,;	uc001uii.2	c.1178C>T	1662/3281	2	2			c.1178C>T						12	SNP	c.(1177-1179)GCG>GTG	47	47			lung(3)|breast(1)|central_nervous_system(1)	5	Broad	frizzled 10 precursor			130648665		0.657	ENSG00000111432	6023	g.chr12:130648665C>T	brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding							101.117	KEEP	19	19	-1	32	31	19	19	-1	102.173876	32	31	0.384615	1	0	0	0	0	1	0	0	0	--	--		0	T			uc001uig.1_5'Flank|uc001uih.1_5'Flank	164	GBM-19-2624-TP	p.A393V	C	GACGTCAACGCGCTCACCGGC	NM_007197	NP_009128	130648665	Q9ULW2	FZD10_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	1634	+	T	T	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Missense_Mutation	393			Extracellular (Potential).			
FZD10	0	broad.mit.edu	GRCh37	12	130648643	130648643	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-1442-01	TCGA-26-1442-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000229030.4:c.1156G>A	p.Val386Met	p.V386M	ENST00000229030		386	Gtg/Atg	0			1			A	V/M	uc001uii.2	protein_coding	YES	CCDS9267.1			1156/1746									lung(3)|breast(1)|central_nervous_system(1)	5	c.(1156-1158)GTG>ATG			PROSITE_profiles:PS50261,hmmpanther:PTHR11309:SF86,hmmpanther:PTHR11309,Pfam_domain:PF01534	frizzled 10 precursor				ENSP00000229030		1-Jan	8.24E-06			0.000116					rs764506823,COSM2228241	1-Jan	.		ENST00000229030	Transcript			brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	ENSG00000111432	g.chr12:130648643G>A	4039			MODERATE		3.825	high	getma.org/?cm=msa&ty=f&p=FZD10_HUMAN&rb=217&re=541&var=V386M	NA	getma.org/?cm=var&var=hg19,12,130648643,G,A&fts=all	V386M	--	--	1																																		uc001uig.1_5'Flank|uc001uih.1_5'Flank	0,1	1		probably_damaging(0.999)	p.V386M	NM_007197	NP_009128		deleterious(0)	0,1	FZD10_HUMAN	FZD10	HGNC	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)			1	1612	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		UPI000004EC92	386			Extracellular (Potential).		SNV	FZD10,missense_variant,p.Arg353His,ENST00000539839,NM_007197.3;FZD10,missense_variant,p.Val386Met,ENST00000229030,;FZD10-AS1,upstream_gene_variant,,ENST00000505807,;FZD10-AS1,upstream_gene_variant,,ENST00000509760,;FZD10-AS1,upstream_gene_variant,,ENST00000537095,;FZD10-AS1,upstream_gene_variant,,ENST00000542000,;	uc001uii.2	c.1156G>A	1640/3281	1	1			c.1156G>A						12	SNP	c.(1156-1158)GTG>ATG	63	63			lung(3)|breast(1)|central_nervous_system(1)	5	Broad	frizzled 10 precursor			130648643		0.657	ENSG00000111432	6023	g.chr12:130648643G>A	brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding							-8.650892	KEEP	1	4	-1	34	49	1	4	-1	7.412939	34	49	0.052632	1	0	0	0	0	1	0	0	0	--	--		0	A			uc001uig.1_5'Flank|uc001uih.1_5'Flank	180	GBM-26-1442-TP	p.V386M	G	GGTCTGCTACGTGGGCAGCAT	NM_007197	NP_009128	130648643	Q9ULW2	FZD10_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	1612	+	A	A	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Missense_Mutation	386			Extracellular (Potential).			
FZD10	0	broad.mit.edu	GRCh37	12	130647861	130647861	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-27-1834-01	TCGA-27-1834-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000229030.4:c.374A>T	p.Asn125Ile	p.N125I	ENST00000229030		125	aAc/aTc	0			1			T	N/I	uc001uii.2	protein_coding	YES	CCDS9267.1			374/1746									lung(3)|breast(1)|central_nervous_system(1)	5	c.(373-375)AAC>ATC			PROSITE_profiles:PS50038,hmmpanther:PTHR11309:SF86,hmmpanther:PTHR11309,Gene3D:1ijyA00,Pfam_domain:PF01392,SMART_domains:SM00063,Superfamily_domains:SSF63501	frizzled 10 precursor				ENSP00000229030		1-Jan									COSM3398525	1-Jan	.		ENST00000229030	Transcript			brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	ENSG00000111432	g.chr12:130647861A>T	4039			MODERATE		2.35	medium	getma.org/?cm=msa&ty=f&p=FZD10_HUMAN&rb=34&re=148&var=N125I	getma.org/pdb.php?prot=FZD10_HUMAN&from=34&to=148&var=N125I	getma.org/?cm=var&var=hg19,12,130647861,A,T&fts=all	N125I	--	--	1																																		uc001uig.1_5'Flank|uc001uih.1_5'Flank	1	1		benign(0.17)	p.N125I	NM_007197	NP_009128		deleterious(0)	1	FZD10_HUMAN	FZD10	HGNC	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)			1	830	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		UPI000004EC92	125			FZ.|Extracellular (Potential).		SNV	FZD10,missense_variant,p.Gln92His,ENST00000539839,NM_007197.3;FZD10,missense_variant,p.Asn125Ile,ENST00000229030,;FZD10-AS1,upstream_gene_variant,,ENST00000505807,;FZD10-AS1,upstream_gene_variant,,ENST00000509760,;FZD10-AS1,upstream_gene_variant,,ENST00000537095,;FZD10-AS1,upstream_gene_variant,,ENST00000542000,;	uc001uii.2	c.374A>T	858/3281	1	1			c.374A>T						12	SNP	c.(373-375)AAC>ATC	10	10			lung(3)|breast(1)|central_nervous_system(1)	5	Broad	frizzled 10 precursor			130647861		0.642	ENSG00000111432	6023	g.chr12:130647861A>T	brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding							231.280535	KEEP	46	58	-1	88	125	46	58	-1	238.978257	88	125	0.319549	1	0	0	0	0	1	0	0	0	--	--		0	T			uc001uig.1_5'Flank|uc001uih.1_5'Flank	193	GBM-27-1834-TP	p.N125I	A	GAGCAGTTCAACTTCAAGTGG	NM_007197	NP_009128	130647861	Q9ULW2	FZD10_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	830	+	T	T	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Missense_Mutation	125			FZ.|Extracellular (Potential).			
FZD3	0	broad.mit.edu	GRCh37	8	28385048	28385048	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-4068-01	TCGA-19-4068-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000240093.3:c.771G>A	p.Leu257=	p.L257=	ENST00000240093	NM_017412.3	257	ttG/ttA	0			1			A	L	uc003xgx.2	protein_coding	YES	CCDS6069.1			771/2001									ovary(1)|central_nervous_system(1)	2	c.(769-771)TTG>TTA			Pfam_domain:PF01534,PROSITE_profiles:PS50261,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF22,Transmembrane_helices:TMhelix	frizzled 3 precursor				ENSP00000240093		8-May									COSM2156457	8-May	.		ENST00000240093	Transcript			canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	ENSG00000104290	g.chr8:28385048G>A	4041			LOW								--	--	1																																		FZD3_uc010lvb.2_Silent_p.L257L	1	1			p.L257L	NM_017412	NP_059108			1	FZD3_HUMAN	FZD3	HGNC	Q9NPG1	FZD3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)	E5RGI9_HUMAN		5	1249	+		Ovarian(32;2.06e-05)	UPI000003156A	257			Helical; Name=2; (Potential).		SNV	FZD3,synonymous_variant,p.=,ENST00000240093,NM_017412.3;FZD3,synonymous_variant,p.=,ENST00000537916,NM_145866.1;RNA5SP259,upstream_gene_variant,,ENST00000365541,;	uc003xgx.2	c.771G>A	1249/13726	2	2			c.771G>A						8	SNP	c.(769-771)TTG>TTA	42	42			ovary(1)|central_nervous_system(1)	2	Broad	frizzled 3 precursor			28385048		0.378	ENSG00000104290	6025	g.chr8:28385048G>A	canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding							245.743537	KEEP	55	52	-1	95	97	55	52	-1	249.627449	95	97	0.367589	1	0	0	0	0	0	0	1	0	--	--		0	A			FZD3_uc010lvb.2_Silent_p.L257L	168	GBM-19-4068-TP	p.L257L	G	TTGGATTTTTGCTTGAAGATC	NM_017412	NP_059108	28385048	Q9NPG1	FZD3_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)	5	1249	+	A	A		Ovarian(32;2.06e-05)	Silent	257			Helical; Name=2; (Potential).			
FZD5	7855		GRCh37	2	208632195	208632195	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000295417.3:c.1269C>T	p.Phe423=	p.F423=	ENST00000295417	NM_003468.3	423	ttC/ttT	0																																																																																																																																																																																																																																												
FZD6	8323	broad.mit.edu	GRCh37	8	104342147	104342147	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0126-01	TCGA-06-0126-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358755.4:c.1806G>A	p.Ala602=	p.A602=	ENST00000358755	NM_001164616.1	602	gcG/gcA	0			1			A	A	uc003ylh.2	protein_coding	YES	CCDS6298.1			1806/2121									central_nervous_system(1)|skin(1)	2	c.(1804-1806)GCG>GCA			hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF75	frizzled 6 isoform a precursor				ENSP00000351605		7-Jun	1.65E-05					3.00E-05			rs753220831,COSM3412619	7-Jun	.		ENST00000358755	Transcript	1		angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	ENSG00000164930	g.chr8:104342147G>A	4044			LOW								--	--	1																																		FZD6_uc003ylj.2_Silent_p.A602A|FZD6_uc011lhn.1_Silent_p.A568A|FZD6_uc011lho.1_Silent_p.A297A|FZD6_uc011lhp.1_Silent_p.A547A	0,1	1			p.A602A	NM_003506	NP_003497			0,1	FZD6_HUMAN	FZD6	HGNC	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		B7ZB79_HUMAN		6	2090	+			UPI0000061EB0	602			Cytoplasmic (Potential).		SNV	FZD6,synonymous_variant,p.=,ENST00000358755,NM_001164616.1,NM_003506.3;FZD6,synonymous_variant,p.=,ENST00000522566,NM_001164615.1;FZD6,synonymous_variant,p.=,ENST00000523739,;FZD6,synonymous_variant,p.=,ENST00000540287,;FZD6,3_prime_UTR_variant,,ENST00000522484,;FZD6,3_prime_UTR_variant,,ENST00000521195,;FZD6,3_prime_UTR_variant,,ENST00000519011,;FZD6,3_prime_UTR_variant,,ENST00000523933,;	uc003ylh.2	c.1806G>A	2123/3788	1	1			c.1806G>A						8	SNP	c.(1804-1806)GCG>GCA	50	50			central_nervous_system(1)|skin(1)	2	Broad	frizzled 6 isoform a precursor			104342147		0.512	ENSG00000164930	6028	g.chr8:104342147G>A	angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding							-8.332815	KEEP	3	0	-1	33	35	3	0	-1	6.514515	33	35	0.044776	1	0	0	0	0	0	0	1	0	--	--		0	A			FZD6_uc003ylj.2_Silent_p.A602A|FZD6_uc011lhn.1_Silent_p.A568A|FZD6_uc011lho.1_Silent_p.A297A|FZD6_uc011lhp.1_Silent_p.A547A	13	GBM-06-0126-TP	p.A602A	G	AGGTGAAAGCGGACGGAGCTA	NM_003506	NP_003497	104342147	O60353	FZD6_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		6	2090	+	A	A			Silent	602			Cytoplasmic (Potential).			
FZD9	8326	broad.mit.edu	GRCh37	7	72849409	72849409	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0125-01	TCGA-06-0125-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344575.3:c.1072T>A	p.Phe358Ile	p.F358I	ENST00000344575	NM_003508.2	358	Ttc/Atc	0			1			A	F/I	uc003tyb.2	protein_coding	YES	CCDS5548.1			1072/1776									central_nervous_system(1)	1	c.(1072-1074)TTC>ATC			Pfam_domain:PF01534,Prints_domain:PR00489,PROSITE_profiles:PS50261,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF79,Transmembrane_helices:TMhelix	frizzled 9 precursor				ENSP00000345785		1-Jan									COSM2149343	1-Jan	.		ENST00000344575	Transcript			B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	ENSG00000188763	g.chr7:72849409T>A	4047			MODERATE		3.695	high	getma.org/?cm=msa&ty=f&p=FZD9_HUMAN&rb=221&re=547&var=F358I	NA	getma.org/?cm=var&var=hg19,7,72849409,T,A&fts=all	F358I	--	--	1																																			1	1		possibly_damaging(0.833)	p.F358I	NM_003508	NP_003499		deleterious(0)	1	FZD9_HUMAN	FZD9	HGNC	O00144	FZD9_HUMAN					1	1301	+		Lung NSC(55;0.0659)|all_lung(88;0.152)	UPI000004EC98	358			Helical; Name=4; (Potential).		SNV	FZD9,missense_variant,p.Phe358Ile,ENST00000344575,NM_003508.2;	uc003tyb.2	c.1072T>A	1301/2342	1	1			c.1072T>A						7	SNP	c.(1072-1074)TTC>ATC	54	54			central_nervous_system(1)	1	Broad	frizzled 9 precursor			72849409		0.652	ENSG00000188763	6031	g.chr7:72849409T>A	B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	Pancreas(144;909 1878 36867 38226 39554)			Pancreas(144;909 1878 36867 38226 39554)			75.141655	KEEP	23	15	-1	36	34	23	15	-1	77.040006	36	34	0.341176	1	0	0	0	0	1	0	0	0	--	--		0	A				12	GBM-06-0125-TP	p.F358I	T	CGGCAGCTATTTCCACATGGC	NM_003508	NP_003499	72849409	O00144	FZD9_HUMAN	0			1	1301	+	A	A		Lung NSC(55;0.0659)|all_lung(88;0.152)	Missense_Mutation	358			Helical; Name=4; (Potential).			
FZD9	8326		GRCh37	7	72849307	72849307	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000344575.3:c.970G>A	p.Gly324Ser	p.G324S	ENST00000344575	NM_003508.2	324	Ggc/Agc	0																																																																																																																																																																																																																																												
FZR1	51343	broad.mit.edu	GRCh37	19	3531983	3531983	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-1804-01	TCGA-06-1804-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395095.3:c.898A>C	p.Thr300Pro	p.T300P	ENST00000395095	NM_001136198.1	300	Acc/Ccc	0			1			C	T/P	uc010dtk.2	protein_coding	YES	CCDS45916.1			898/1491									lung(1)|kidney(1)	2	c.(898-900)ACC>CCC			Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR19918,hmmpanther:PTHR19918:SF6,Superfamily_domains:SSF50978	Fzr1 protein isoform 1				ENSP00000378529		13-Sep	0.00168	0.0129	0.0158	0.0131	0.0213	0.0069		0.000887	rs200584048,COSM3748053	13-Sep	common_variant		ENST00000395095	Transcript			activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding	ENSG00000105325	g.chr19:3531983A>C	24824			MODERATE		2.105	medium	getma.org/?cm=msa&ty=f&p=FZR_HUMAN&rb=265&re=333&var=T300P	getma.org/pdb.php?prot=FZR_HUMAN&from=295&to=303&var=T300P	getma.org/?cm=var&var=hg19,19,3531983,A,C&fts=all	T300P	--	--	1																																		FZR1_uc002lxt.2_Missense_Mutation_p.T300P|FZR1_uc002lxv.2_Missense_Mutation_p.T211P	0,1	1		possibly_damaging(0.522)	p.T300P	NM_001136198	NP_001129670		deleterious(0.02)	0,1	FZR_HUMAN	FZR1	HGNC	Q9UM11	FZR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)			9	932	+			UPI00001D6A23	300			WD 3.		SNV	FZR1,missense_variant,p.Thr300Pro,ENST00000441788,NM_016263.3;FZR1,missense_variant,p.Thr300Pro,ENST00000395095,NM_001136198.1;FZR1,missense_variant,p.Thr211Pro,ENST00000313639,NM_001136197.1;FZR1,missense_variant,p.Thr300Pro,ENST00000591290,;FZR1,downstream_gene_variant,,ENST00000588327,;FZR1,upstream_gene_variant,,ENST00000588084,;FZR1,upstream_gene_variant,,ENST00000586212,;FZR1,downstream_gene_variant,,ENST00000592214,;	uc010dtk.2	c.898A>C	898/1491	4	4			c.898A>C						19	SNP	c.(898-900)ACC>CCC	43	43			lung(1)|kidney(1)	2	Broad	Fzr1 protein isoform 1			3531983		0.711	ENSG00000105325	6032	g.chr19:3531983A>C	activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding							7.473952	KEEP	7	5	-1	3	6	7	5	-1	7.471714	3	6	0.538462	1	0	0	0	0	1	0	0	0	--	--		0	C			FZR1_uc002lxt.2_Missense_Mutation_p.T300P|FZR1_uc002lxv.2_Missense_Mutation_p.T211P	79	GBM-06-1804-TP	p.T300P	A	GGACATCCGCACCCCGCCACT	NM_001136198	NP_001129670	3531983	Q9UM11	FZR_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	9	932	+	C	C			Missense_Mutation	300			WD 3.			
G2E3	55632	broad.mit.edu	GRCh37	14	31081472	31081472	+	stop_gained	Nonsense_Mutation	SNP	C	C	G			TCGA-06-0128-01	TCGA-06-0128-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000206595.6:c.1560C>G	p.Tyr520Ter	p.Y520*	ENST00000206595	NM_017769.3	520	taC/taG	0			1			G	Y/*	uc001wqk.2	protein_coding	YES	CCDS9638.1			1560/2121									ovary(2)|skin(1)	3	c.(1558-1560)TAC>TAG			Pfam_domain:PF00632,hmmpanther:PTHR12420,hmmpanther:PTHR12420:SF13,SMART_domains:SM00119,Superfamily_domains:SSF56204	G2/M-phase specific E3 ubiquitin ligase				ENSP00000206595		13/15									COSM3401282	13/15	.		ENST00000206595	Transcript			apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	ENSG00000092140	g.chr14:31081472C>G	20338			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,14,31081472,C,G&fts=all	Y520*	--	--	1																																		G2E3_uc010tpf.1_Nonsense_Mutation_p.Y474*|G2E3_uc001wql.1_Nonsense_Mutation_p.Y32*	1	1			p.Y520*	NM_017769	NP_060239			1	G2E3_HUMAN	G2E3	HGNC	Q7L622	G2E3_HUMAN			G3V5B6_HUMAN,G3V3B6_HUMAN,F8W0F5_HUMAN,F8VY49_HUMAN,F5GX24_HUMAN		13	1714	+			UPI000013F3A8	520			HECT.		SNV	G2E3,stop_gained,p.Tyr520Ter,ENST00000206595,NM_017769.3;G2E3,stop_gained,p.Tyr550Ter,ENST00000553504,;G2E3,stop_gained,p.Tyr474Ter,ENST00000438909,;G2E3,downstream_gene_variant,,ENST00000544007,;G2E3,downstream_gene_variant,,ENST00000547638,;G2E3,3_prime_UTR_variant,,ENST00000548934,;G2E3,non_coding_transcript_exon_variant,,ENST00000549159,;	uc001wqk.2	c.1560C>G	1714/5804	5	3			c.1560C>G						14	SNP	c.(1558-1560)TAC>TAG	10	10			ovary(2)|skin(1)	3	Broad	G2/M-phase specific E3 ubiquitin ligase			31081472		0.318	ENSG00000092140	6034	g.chr14:31081472C>G	apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding							65.320364	KEEP	22	11	-1	101	91	22	11	-1	90.419347	101	91	0.144928	1	0	0	0	0	0	1	0	0	--	--		0	G			G2E3_uc010tpf.1_Nonsense_Mutation_p.Y474*|G2E3_uc001wql.1_Nonsense_Mutation_p.Y32*	14	GBM-06-0128-TP	p.Y520*	C	GCTATAACTACCTTGAGTTAA	NM_017769	NP_060239	31081472	Q7L622	G2E3_HUMAN	0			13	1714	+	G	G			Nonsense_Mutation	520			HECT.			
G3BP1	0	broad.mit.edu	GRCh37	5	151170550	151170550	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-15-0742-01	TCGA-15-0742-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356245.3:c.278A>G	p.Gln93Arg	p.Q93R	ENST00000356245	NM_005754.2	93	cAg/cGg	0			1			G	Q/R	uc003lun.2	protein_coding		CCDS4319.1			278/1401									skin(3)|ovary(1)	4	c.(277-279)CAG>CGG			Gene3D:3.10.450.50,Pfam_domain:PF02136,PROSITE_profiles:PS50177,hmmpanther:PTHR10693,hmmpanther:PTHR10693:SF21,Superfamily_domains:SSF54427	Ras-GTPase-activating protein SH3-domain-binding				ENSP00000348578		12-Apr									COSM3410019	12-Apr	.		ENST00000356245	Transcript			Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	ENSG00000145907	g.chr5:151170550A>G	30292			MODERATE		3.35	medium	getma.org/?cm=msa&ty=f&p=G3BP1_HUMAN&rb=11&re=133&var=Q93R	getma.org/pdb.php?prot=G3BP1_HUMAN&from=11&to=133&var=Q93R	getma.org/?cm=var&var=hg19,5,151170550,A,G&fts=all	Q93R	--	--	1																																		G3BP1_uc010jhy.1_Missense_Mutation_p.Q93R|G3BP1_uc003lum.2_Missense_Mutation_p.Q93R|G3BP1_uc011dcu.1_5'UTR|G3BP1_uc010jhz.2_5'UTR	1			benign(0.008)	p.Q93R	NM_005754	NP_005745		deleterious(0.03)	1	G3BP1_HUMAN	G3BP1	HGNC	Q13283	G3BP1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Q5U0Q1_HUMAN,F5H4D6_HUMAN,E5RIF8_HUMAN,E5RI46_HUMAN,E5RH42_HUMAN		4	449	+		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	UPI0000030309	93			NTF2.		SNV	G3BP1,missense_variant,p.Gln93Arg,ENST00000394123,;G3BP1,missense_variant,p.Gln93Arg,ENST00000356245,NM_005754.2,NM_198395.1;G3BP1,missense_variant,p.Gln93Arg,ENST00000520006,;G3BP1,missense_variant,p.Gln103Arg,ENST00000507878,;G3BP1,missense_variant,p.Gln93Arg,ENST00000523519,;G3BP1,missense_variant,p.Gln93Arg,ENST00000520578,;G3BP1,5_prime_UTR_variant,,ENST00000543466,;G3BP1,missense_variant,p.Gln93Arg,ENST00000520177,;G3BP1,missense_variant,p.Gln93Arg,ENST00000522761,;G3BP1,missense_variant,p.Gln93Arg,ENST00000522367,;G3BP1,3_prime_UTR_variant,,ENST00000522666,;G3BP1,3_prime_UTR_variant,,ENST00000517947,;G3BP1,non_coding_transcript_exon_variant,,ENST00000519832,;G3BP1,downstream_gene_variant,,ENST00000518726,;	uc003lun.2	c.278A>G	421/2803	3	3			c.278A>G						5	SNP	c.(277-279)CAG>CGG	16	16			skin(3)|ovary(1)	4	Broad	Ras-GTPase-activating protein SH3-domain-binding			151170550		0.453	ENSG00000145907	6035	g.chr5:151170550A>G	Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding							250.585036	KEEP	52	44	-1	72	71	52	44	-1	252.338458	72	71	0.402844	1	0	0	0	0	1	0	0	0	--	--		0	G			G3BP1_uc010jhy.1_Missense_Mutation_p.Q93R|G3BP1_uc003lum.2_Missense_Mutation_p.Q93R|G3BP1_uc011dcu.1_5'UTR|G3BP1_uc010jhz.2_5'UTR	153	GBM-15-0742-TP	p.Q93R	A	GTGGTAGTCCAGGTGATGGGG	NM_005754	NP_005745	151170550	Q13283	G3BP1_HUMAN	0	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		4	449	+	G	G		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Missense_Mutation	93			NTF2.			
G6PC	0	broad.mit.edu	GRCh37	17	41063121	41063121	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-5222-01	TCGA-32-5222-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000253801.2:c.752T>C	p.Val251Ala	p.V251A	ENST00000253801	NM_000151.3	251	gTc/gCc	0			1			C	V/A	uc002icb.1	protein_coding	YES	CCDS11446.1			752/1074									ovary(1)|breast(1)|kidney(1)|skin(1)	4	c.(751-753)GTC>GCC			PIRSF_domain:PIRSF000905,hmmpanther:PTHR12591:SF3,hmmpanther:PTHR12591	glucose-6-phosphatase, catalytic subunit				ENSP00000253801		5-May									COSM3402917	5-May	.	Glycogen_Storage_Disease_type_Ia	ENST00000253801	Transcript	1		gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	ENSG00000131482	g.chr17:41063121T>C	4056			MODERATE		2.05	medium	getma.org/?cm=msa&ty=f&p=G6PC_HUMAN&rb=205&re=357&var=V251A	NA	getma.org/?cm=var&var=hg19,17,41063121,T,C&fts=all	V251A	--	--	1																																		G6PC_uc010whf.1_3'UTR	1	1		benign(0.358)	p.V251A	NM_000151	NP_000142		deleterious(0)	1	G6PC_HUMAN	G6PC	HGNC	P35575	G6PC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)			5	831	+		Breast(137;0.000143)	UPI000013CDF5	251			Lumenal (Potential).		SNV	G6PC,missense_variant,p.Val251Ala,ENST00000253801,NM_000151.3;G6PC,3_prime_UTR_variant,,ENST00000585489,;G6PC,3_prime_UTR_variant,,ENST00000592383,NM_001270397.1;	uc002icb.1	c.752T>C	831/3096	4	4			c.752T>C						17	SNP	c.(751-753)GTC>GCC	41	41			ovary(1)|breast(1)|kidney(1)|skin(1)	4	Broad	glucose-6-phosphatase, catalytic subunit			41063121	Glycogen_Storage_Disease_type_Ia	0.582	ENSG00000131482	6037	g.chr17:41063121T>C	gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding							-25.684527	KEEP	1	2	-1	66	69	1	2	-1	6.656802	66	69	0.023437	1	0	0	0	0	1	0	0	0	--	--		0	C			G6PC_uc010whf.1_3'UTR	249	GBM-32-5222-TP	p.V251A	T	CCAGAATGGGTCCACATTGAC	NM_000151	NP_000142	41063121	P35575	G6PC_HUMAN	0		BRCA - Breast invasive adenocarcinoma(366;0.113)	5	831	+	C	C		Breast(137;0.000143)	Missense_Mutation	251			Lumenal (Potential).			
G6PD	0	broad.mit.edu	GRCh37	X	153760436	153760436	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-2513-01	TCGA-28-2513-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393564.2:c.1424A>G	p.Glu475Gly	p.E475G	ENST00000393564	NM_001042351.1	475	gAg/gGg	0			1			C	E/G	uc004fly.1	protein_coding		CCDS44023.1			1424/1548									ovary(4)	4	c.(1423-1425)GAG>GGG			Superfamily_domains:SSF55347,PIRSF_domain:PIRSF000110,Gene3D:3.30.360.10,TIGRFAM_domain:TIGR00871,Pfam_domain:PF02781,hmmpanther:PTHR23429,hmmpanther:PTHR23429:SF0,HAMAP:MF_00966	glucose-6-phosphate dehydrogenase isoform b				ENSP00000377194		13-Dec									COSM3406163,COSM3406162,COSM3406161	13-Dec	.		ENST00000393564	Transcript	1		cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity	ENSG00000160211	g.chrX:153760436T>C	4057			MODERATE		0.625	neutral	getma.org/?cm=msa&ty=f&p=G6PD_HUMAN&rb=212&re=506&var=E475G	getma.org/pdb.php?prot=G6PD_HUMAN&from=212&to=506&var=E475G	getma.org/?cm=var&var=hg19,X,153760436,T,C&fts=all	E475G	--	--	1																																		G6PD_uc004flx.1_Missense_Mutation_p.E505G	1,1,1			benign(0.007)	p.E475G	NM_001042351	NP_001035810		tolerated(0.59)	1,1,1	G6PD_HUMAN	G6PD	HGNC	P11413	G6PD_HUMAN			Q2VF42_HUMAN,E9PD92_HUMAN,A2IBT6_HUMAN		12	1537	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		UPI0000061E0E	475					SNV	G6PD,missense_variant,p.Glu505Gly,ENST00000393562,NM_000402.3;G6PD,missense_variant,p.Glu521Gly,ENST00000369620,;G6PD,missense_variant,p.Glu475Gly,ENST00000393564,NM_001042351.1;G6PD,downstream_gene_variant,,ENST00000439227,;G6PD,downstream_gene_variant,,ENST00000440967,;G6PD,downstream_gene_variant,,ENST00000433845,;G6PD,downstream_gene_variant,,ENST00000497281,;G6PD,non_coding_transcript_exon_variant,,ENST00000490651,;G6PD,downstream_gene_variant,,ENST00000489497,;G6PD,downstream_gene_variant,,ENST00000488434,;	uc004fly.1	c.1424A>G	1537/1661	3	3			c.1424A>G						23	SNP	c.(1423-1425)GAG>GGG	2	2			ovary(4)	4	Broad	glucose-6-phosphate dehydrogenase isoform b			153760436		0.627	ENSG00000160211	6040	g.chrX:153760436T>C	cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity							4.671833	KEEP	5	2	-1	23	31	5	2	-1	10.86631	23	31	0.119048	1	0	0	0	0	1	0	0	0	--	--		0	C			G6PD_uc004flx.1_Missense_Mutation_p.E505G	213	GBM-28-2513-TP	p.E475G	T	CTTGGGCTTCTCCAGCTCAAT	NM_001042351	NP_001035810	153760436	P11413	G6PD_HUMAN	0			12	1537	-	C	C	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		Missense_Mutation	475						
GAA	0	broad.mit.edu	GRCh37	17	78082609	78082609	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-12-5301-01	TCGA-12-5301-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302262.3:c.1308G>T	p.Arg436=	p.R436=	ENST00000302262	NM_000152.3	436	cgG/cgT	0			1			T	R	uc002jxo.2	protein_coding	YES	CCDS32760.1			1308/2859									ovary(1)	1	c.(1306-1308)CGG>CGT			Pfam_domain:PF01055,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF48,Superfamily_domains:SSF51445	acid alpha-glucosidase preproprotein	Acarbose(DB00284)			ENSP00000305692		20-Aug									COSM3403343	20-Aug	.		ENST00000302262	Transcript	1		cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	ENSG00000171298	g.chr17:78082609G>T	4065			LOW								--	--	1																																		GAA_uc002jxp.2_Silent_p.R436R|GAA_uc002jxq.2_Silent_p.R436R	1	1			p.R436R	NM_001079803	NP_001073271			1	LYAG_HUMAN	GAA	HGNC	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		I3L3L3_HUMAN,I3L0S5_HUMAN		9	1490	+	all_neural(118;0.117)		UPI00000744FF	436					SNV	GAA,synonymous_variant,p.=,ENST00000302262,NM_000152.3;GAA,synonymous_variant,p.=,ENST00000390015,NM_001079804.1,NM_001079803.1;GAA,downstream_gene_variant,,ENST00000570803,;GAA,downstream_gene_variant,,ENST00000577106,;GAA,upstream_gene_variant,,ENST00000572080,;GAA,upstream_gene_variant,,ENST00000572803,;GAA,upstream_gene_variant,,ENST00000570716,;	uc002jxo.2	c.1308G>T	1527/3626	1	1			c.1308G>T						17	SNP	c.(1306-1308)CGG>CGT	13	13			ovary(1)	1	Broad	acid alpha-glucosidase preproprotein		Acarbose(DB00284)	78082609		0.642	ENSG00000171298	6041	g.chr17:78082609G>T	cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity							54.051782	KEEP	14	9	0.608695652	9	9	14	9	0.608695652	54.051782	9	9	0.5	1	0	0	0	0	0	0	1	0	--	--		0	T			GAA_uc002jxp.2_Silent_p.R436R|GAA_uc002jxq.2_Silent_p.R436R	131	GBM-12-5301-TP	p.R436R	G	AGGGCGGCCGGCGCTACATGA	NM_001079803	NP_001073271	78082609	P10253	LYAG_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		9	1490	+	T	T	all_neural(118;0.117)		Silent	436						
GAA	0	broad.mit.edu	GRCh37	17	78083809	78083809	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5955-01	TCGA-19-5955-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302262.3:c.1392G>A	p.Arg464=	p.R464=	ENST00000302262	NM_000152.3	464	agG/agA	0			1			A	R	uc002jxo.2	protein_coding	YES	CCDS32760.1			1392/2859									ovary(1)	1	c.(1390-1392)AGG>AGA			Pfam_domain:PF01055,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF48,Superfamily_domains:SSF51445	acid alpha-glucosidase preproprotein	Acarbose(DB00284)			ENSP00000305692		20-Sep									COSM3403344	20-Sep	.		ENST00000302262	Transcript	1		cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	ENSG00000171298	g.chr17:78083809G>A	4065			LOW								--	--	1																																		GAA_uc002jxp.2_Silent_p.R464R|GAA_uc002jxq.2_Silent_p.R464R	1	1			p.R464R	NM_001079803	NP_001073271			1	LYAG_HUMAN	GAA	HGNC	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		I3L3L3_HUMAN,I3L0S5_HUMAN		10	1574	+	all_neural(118;0.117)		UPI00000744FF	464					SNV	GAA,synonymous_variant,p.=,ENST00000302262,NM_000152.3;GAA,synonymous_variant,p.=,ENST00000390015,NM_001079804.1,NM_001079803.1;GAA,downstream_gene_variant,,ENST00000570803,;GAA,downstream_gene_variant,,ENST00000577106,;GAA,upstream_gene_variant,,ENST00000572080,;GAA,upstream_gene_variant,,ENST00000572803,;GAA,upstream_gene_variant,,ENST00000570716,;	uc002jxo.2	c.1392G>A	1611/3626	1	1			c.1392G>A						17	SNP	c.(1390-1392)AGG>AGA	51	51			ovary(1)	1	Broad	acid alpha-glucosidase preproprotein		Acarbose(DB00284)	78083809		0.657	ENSG00000171298	6041	g.chr17:78083809G>A	cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity							17.2645	KEEP	8	9	-1	59	62	8	9	-1	33.878604	59	62	0.119658	1	0	0	0	0	0	0	1	0	--	--		0	A			GAA_uc002jxp.2_Silent_p.R464R|GAA_uc002jxq.2_Silent_p.R464R	175	GBM-19-5955-TP	p.R464R	G	GTCTGCGGAGGGGGGTTTTCA	NM_001079803	NP_001073271	78083809	P10253	LYAG_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		10	1574	+	A	A	all_neural(118;0.117)		Silent	464						
GAA	0	broad.mit.edu	GRCh37	17	78081639	78081639	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01	TCGA-27-2524-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302262.3:c.899C>T	p.Ala300Val	p.A300V	ENST00000302262	NM_000152.3	300	gCg/gTg	0			1			T	A/V	uc002jxo.2	protein_coding	YES	CCDS32760.1			899/2859									ovary(1)	1	c.(898-900)GCG>GTG			Pfam_domain:PF13802,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF48,Superfamily_domains:SSF74650	acid alpha-glucosidase preproprotein	Acarbose(DB00284)			ENSP00000305692		20-May									COSM3403342	20-May	.		ENST00000302262	Transcript	1		cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	ENSG00000171298	g.chr17:78081639C>T	4065			MODERATE		-0.24	neutral	getma.org/?cm=msa&ty=f&p=LYAG_HUMAN&rb=254&re=320&var=A300V	getma.org/pdb.php?prot=LYAG_HUMAN&from=254&to=320&var=A300V	getma.org/?cm=var&var=hg19,17,78081639,C,T&fts=all	A300V	--	--	1																																		GAA_uc002jxp.2_Missense_Mutation_p.A300V|GAA_uc002jxq.2_Missense_Mutation_p.A300V	1	1		benign(0.001)	p.A300V	NM_001079803	NP_001073271		tolerated(1)	1	LYAG_HUMAN	GAA	HGNC	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		I3L3L3_HUMAN,I3L0S5_HUMAN		6	1081	+	all_neural(118;0.117)		UPI00000744FF	300					SNV	GAA,missense_variant,p.Ala300Val,ENST00000302262,NM_000152.3;GAA,missense_variant,p.Ala300Val,ENST00000390015,NM_001079804.1,NM_001079803.1;GAA,downstream_gene_variant,,ENST00000570803,;GAA,downstream_gene_variant,,ENST00000577106,;GAA,upstream_gene_variant,,ENST00000572080,;GAA,upstream_gene_variant,,ENST00000572803,;GAA,upstream_gene_variant,,ENST00000570716,;	uc002jxo.2	c.899C>T	1118/3626	1	1			c.899C>T						17	SNP	c.(898-900)GCG>GTG	9	9			ovary(1)	1	Broad	acid alpha-glucosidase preproprotein		Acarbose(DB00284)	78081639		0.647	ENSG00000171298	6041	g.chr17:78081639C>T	cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity							26.479605	KEEP	4	11	-1	20	10	4	11	-1	27.017116	20	10	0.346154	1	0	0	0	0	1	0	0	0	--	--		0	T			GAA_uc002jxp.2_Missense_Mutation_p.A300V|GAA_uc002jxq.2_Missense_Mutation_p.A300V	202	GBM-27-2524-TP	p.A300V	C	TTCTACCTGGCGCTGGAGGAC	NM_001079803	NP_001073271	78081639	P10253	LYAG_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		6	1081	+	T	T	all_neural(118;0.117)		Missense_Mutation	300						
GAB2	9846	broad.mit.edu	GRCh37	11	77991912	77991912	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0190-01	TCGA-06-0190-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361507.4:c.111C>T	p.Gly37=	p.G37=	ENST00000361507	NM_080491.2	37	ggC/ggT	0			1			A	G	uc001ozh.2	protein_coding	YES	CCDS8259.1			111/2031									ovary(5)|lung(1)	6	c.(109-111)GGC>GGT			Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,Pfam_domain:PF00169,hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF4,PROSITE_profiles:PS50003	GRB2-associated binding protein 2 isoform a				ENSP00000354952		10-Feb									COSM3398151	10-Feb	.		ENST00000361507	Transcript			osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	ENSG00000033327	g.chr11:77991912G>A	14458			LOW								--	--	1																																		GAB2_uc001ozg.2_5'UTR	1	1			p.G37G	NM_080491	NP_536739			1	GAB2_HUMAN	GAB2	HGNC	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		E9PJE2_HUMAN,E9PJ26_HUMAN		2	111	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		UPI0000073037	37			PH.		SNV	GAB2,synonymous_variant,p.=,ENST00000361507,NM_080491.2;GAB2,5_prime_UTR_variant,,ENST00000340149,NM_012296.3;GAB2,5_prime_UTR_variant,,ENST00000530915,;GAB2,5_prime_UTR_variant,,ENST00000528886,;GAB2,non_coding_transcript_exon_variant,,ENST00000526030,;GAB2,non_coding_transcript_exon_variant,,ENST00000534823,;	uc001ozh.2	c.111C>T	197/6092	2	2			c.111C>T						11	SNP	c.(109-111)GGC>GGT	42	42			ovary(5)|lung(1)	6	Broad	GRB2-associated binding protein 2 isoform a			77991912		0.463	ENSG00000033327	6043	g.chr11:77991912G>A	osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity							-33.812994	KEEP	1	3	-1	83	99	1	3	-1	6.491436	83	99	0.024845	1	0	0	0	0	0	0	1	0	--	--		0	A			GAB2_uc001ozg.2_5'UTR	43	GBM-06-0190-TP	p.G37G	G	CGCTCATCCGGCCACTCCGCA	NM_080491	NP_536739	77991912	Q9UQC2	GAB2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		2	111	-	A	A	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		Silent	37			PH.			
GAB2	9846	broad.mit.edu	GRCh37	11	77934481	77934481	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01	TCGA-06-6391-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361507.4:c.1544G>A	p.Arg515His	p.R515H	ENST00000361507	NM_080491.2	515	cGc/cAc	0			1			T	R/H	uc001ozh.2	protein_coding	YES	CCDS8259.1			1544/2031									ovary(5)|lung(1)	6	c.(1543-1545)CGC>CAC			hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF4	GRB2-associated binding protein 2 isoform a				ENSP00000354952		10-Jun									rs369351419	10-Jun	.		ENST00000361507	Transcript			osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	ENSG00000033327	g.chr11:77934481C>T	14458			MODERATE		2.755	medium	getma.org/?cm=msa&ty=f&p=GAB2_HUMAN&rb=122&re=674&var=R515H	NA	getma.org/?cm=var&var=hg19,11,77934481,C,T&fts=all	R515H	--	--	1																																		GAB2_uc001ozg.2_Missense_Mutation_p.R477H		1		benign(0.327)	p.R515H	NM_080491	NP_536739		deleterious(0.01)		GAB2_HUMAN	GAB2	HGNC	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		E9PJE2_HUMAN,E9PJ26_HUMAN		6	1544	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		UPI0000073037	515			SH3-binding.		SNV	GAB2,missense_variant,p.Arg515His,ENST00000361507,NM_080491.2;GAB2,missense_variant,p.Arg477His,ENST00000340149,NM_012296.3;GAB2,downstream_gene_variant,,ENST00000526030,;GAB2,downstream_gene_variant,,ENST00000528329,;	uc001ozh.2	c.1544G>A	1630/6092	2	2			c.1544G>A						11	SNP	c.(1543-1545)CGC>CAC	24	24			ovary(5)|lung(1)	6	Broad	GRB2-associated binding protein 2 isoform a			77934481		0.547	ENSG00000033327	6043	g.chr11:77934481C>T	osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity							-21.882322	KEEP	3	2	-1	81	51	3	2	-1	7.74226	81	51	0.032258	1	0	0	0	0	1	0	0	0	--	--		0	T			GAB2_uc001ozg.2_Missense_Mutation_p.R477H	107	GBM-06-6391-TP	p.R515H	C	TTTGAGGTTGCGGTTGACAGG	NM_080491	NP_536739	77934481	Q9UQC2	GAB2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		6	1544	-	T	T	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		Missense_Mutation	515			SH3-binding.			
GAB4	0	broad.mit.edu	GRCh37	22	17450832	17450832	+	splice_donor_variant	Splice_Site	SNP	C	C	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400588.1:c.937+1G>A		p.X313_splice	ENST00000400588	NM_001037814.1			0			1			T		uc002zlw.2	protein_coding	YES	CCDS42976.1			937/1725									large_intestine(1)|ovary(1)	2	c.e4+1				GRB2-associated binding protein family, member				ENSP00000383431			7.42E-05							0.000545	rs769082245,COSM3405498		common_variant		ENST00000400588	Transcript						ENSG00000215568	g.chr22:17450832C>T	18325			HIGH	9-Apr							--	--	1																																		GAB4_uc010gqs.1_Intron	0,1	1			p.A313_splice	NM_001037814	NP_001032903			0,1	GAB4_HUMAN	GAB4	HGNC	Q2WGN9	GAB4_HUMAN					4	1045	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	UPI00002326B5						SNV	GAB4,splice_donor_variant,,ENST00000400588,NM_001037814.1;GAB4,intron_variant,,ENST00000523144,;GAB4,upstream_gene_variant,,ENST00000520505,;GAB4,intron_variant,,ENST00000465611,;	uc002zlw.2	c.937_splice	-/2630	5	2			c.937_splice						22	SNP	c.e4+1	32	32			large_intestine(1)|ovary(1)	2	Broad	GRB2-associated binding protein family, member			17450832		0.597	ENSG00000215568	6045	g.chr22:17450832C>T										327.580036	KEEP	50	66	-1	14	19	50	66	-1	337.293191	14	19	0.784615	1	0	0	0	0	0	0	0	1	--	--		0	T			GAB4_uc010gqs.1_Intron	269	GBM-76-4929-TP	p.A313_splice	C	GGGGTACACACCCTCATTATC	NM_001037814	NP_001032903	17450832	Q2WGN9	GAB4_HUMAN	0			4	1045	-	T	T		all_epithelial(15;0.112)|Lung NSC(13;0.248)	Splice_Site							
GABBR1	2550	broad.mit.edu	GRCh37	6	29599228	29599228	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0749-01	TCGA-06-0749-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377034.4:c.234C>T	p.Val78=	p.V78=	ENST00000377034	NM_001470.2	78	gtC/gtT	0			1			A	V	uc003nmt.3	protein_coding	YES	CCDS4663.1			234/2886									ovary(5)|liver(1)|skin(1)	7	c.(232-234)GTC>GTT			Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	gamma-aminobutyric acid (GABA) B receptor 1	Baclofen(DB00181)|Progabide(DB00837)			ENSP00000366233		23-Mar									COSM2151924	23-Mar	.		ENST00000377034	Transcript			gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	ENSG00000204681	g.chr6:29599228G>A	4070			LOW								--	--	1																																		GABBR1_uc003nmu.3_Silent_p.V78V|GABBR1_uc011dlr.1_5'UTR|GABBR1_uc011dls.1_Silent_p.V78V	1	1			p.V78V	NM_001470	NP_001461			1	GABR1_HUMAN	GABBR1	HGNC	Q9UBS5	GABR1_HUMAN			F8WAV2_HUMAN,F8WAS6_HUMAN,C9JZG6_HUMAN		3	570	-			UPI000004618A	78			Sushi 1.|Extracellular (Potential).		SNV	GABBR1,synonymous_variant,p.=,ENST00000377034,NM_001470.2;GABBR1,synonymous_variant,p.=,ENST00000376977,;GABBR1,synonymous_variant,p.=,ENST00000377016,NM_021904.2;GABBR1,synonymous_variant,p.=,ENST00000462632,;GABBR1,synonymous_variant,p.=,ENST00000476670,;GABBR1,upstream_gene_variant,,ENST00000377012,NM_021903.2;GABBR1,upstream_gene_variant,,ENST00000355973,;GABBR1,synonymous_variant,p.=,ENST00000472823,;GABBR1,synonymous_variant,p.=,ENST00000491829,;GABBR1,synonymous_variant,p.=,ENST00000494877,;GABBR1,synonymous_variant,p.=,ENST00000489385,;GABBR1,synonymous_variant,p.=,ENST00000485508,;GABBR1,non_coding_transcript_exon_variant,,ENST00000467259,;SUMO2P1,downstream_gene_variant,,ENST00000445436,;	uc003nmt.3	c.234C>T	570/4527	1	1			c.234C>T						6	SNP	c.(232-234)GTC>GTT	62	62			ovary(5)|liver(1)|skin(1)	7	Broad	gamma-aminobutyric acid (GABA) B receptor 1		Baclofen(DB00181)|Progabide(DB00837)	29599228		0.602	ENSG00000204681	6049	g.chr6:29599228G>A	gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity							67.009268	KEEP	19	18	-1	76	68	19	18	-1	79.003784	76	68	0.20915	1	0	0	0	0	0	0	1	0	--	--		0	A			GABBR1_uc003nmu.3_Silent_p.V78V|GABBR1_uc011dlr.1_5'UTR|GABBR1_uc011dls.1_Silent_p.V78V	69	GBM-06-0749-TP	p.V78V	G	GGCACTTGCGGACCTTGGGCC	NM_001470	NP_001461	29599228	Q9UBS5	GABR1_HUMAN	0			3	570	-	A	A			Silent	78			Sushi 1.|Extracellular (Potential).			
GABBR2	9568	broad.mit.edu	GRCh37	9	101148021	101148021	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0211-01	TCGA-06-0211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259455.2:c.1563C>G	p.Asn521Lys	p.N521K	ENST00000259455	NM_005458.7	521	aaC/aaG	0			1			C	N/K	uc004ays.2	protein_coding	YES	CCDS6736.1			1563/2826									ovary(2)|skin(2)	4	c.(1561-1563)AAC>AAG			Pfam_domain:PF00003,Prints_domain:PR01176,PROSITE_profiles:PS50259,hmmpanther:PTHR10519,hmmpanther:PTHR10519:SF34,Transmembrane_helices:TMhelix	G protein-coupled receptor 51 precursor	Baclofen(DB00181)			ENSP00000259455		19-Nov									COSM2150761	19-Nov	.		ENST00000259455	Transcript			negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	ENSG00000136928	g.chr9:101148021G>C	4507			MODERATE		3.375	medium	getma.org/?cm=msa&ty=f&p=GABR2_HUMAN&rb=491&re=747&var=N521K	NA	getma.org/?cm=var&var=hg19,9,101148021,G,C&fts=all	N521K	--	--	1																																			1	1		possibly_damaging(0.842)	p.N521K	NM_005458	NP_005449		deleterious(0)	1	GABR2_HUMAN	GABBR2	HGNC	O75899	GABR2_HUMAN			H9NIL8_HUMAN		11	1719	-		Acute lymphoblastic leukemia(62;0.0527)	UPI0000035832	521			Cytoplasmic (Potential).		SNV	GABBR2,missense_variant,p.Asn521Lys,ENST00000259455,NM_005458.7;	uc004ays.2	c.1563C>G	2023/5761	3	3			c.1563C>G						9	SNP	c.(1561-1563)AAC>AAG	55	55			ovary(2)|skin(2)	4	Broad	G protein-coupled receptor 51 precursor		Baclofen(DB00181)	101148021		0.388	ENSG00000136928	6050	g.chr9:101148021G>C	negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity							202.250328	KEEP	24	40	-1	23	39	24	40	-1	202.267871	23	39	0.486486	1	0	0	0	0	1	0	0	0	--	--		0	C				48	GBM-06-0211-TP	p.N521K	G	GGATGATAAGGTTGTTCATGT	NM_005458	NP_005449	101148021	O75899	GABR2_HUMAN	0			11	1719	-	C	C		Acute lymphoblastic leukemia(62;0.0527)	Missense_Mutation	521			Cytoplasmic (Potential).			
GABBR2	0	broad.mit.edu	GRCh37	9	101052880	101052880	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-14-1456-01	TCGA-14-1456-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259455.2:c.2812G>C	p.Val938Leu	p.V938L	ENST00000259455	NM_005458.7	938	Gtc/Ctc	0			1			G	V/L	uc004ays.2	protein_coding	YES	CCDS6736.1			2812/2826									ovary(2)|skin(2)	4	c.(2812-2814)GTC>CTC			hmmpanther:PTHR10519,hmmpanther:PTHR10519:SF34	G protein-coupled receptor 51 precursor	Baclofen(DB00181)			ENSP00000259455		19/19									COSM3413195	19/19	.		ENST00000259455	Transcript			negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	ENSG00000136928	g.chr9:101052880C>G	4507			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=GABR2_HUMAN&rb=748&re=941&var=V938L	NA	getma.org/?cm=var&var=hg19,9,101052880,C,G&fts=all	V938L	--	--	1																																			1	1		benign(0.057)	p.V938L	NM_005458	NP_005449		tolerated_low_confidence(0.25)	1	GABR2_HUMAN	GABBR2	HGNC	O75899	GABR2_HUMAN			H9NIL8_HUMAN		19	2968	-		Acute lymphoblastic leukemia(62;0.0527)	UPI0000035832	938			Cytoplasmic (Potential).		SNV	GABBR2,missense_variant,p.Val938Leu,ENST00000259455,NM_005458.7;	uc004ays.2	c.2812G>C	3272/5761	3	3			c.2812G>C						9	SNP	c.(2812-2814)GTC>CTC	62	62			ovary(2)|skin(2)	4	Broad	G protein-coupled receptor 51 precursor		Baclofen(DB00181)	101052880		0.687	ENSG00000136928	6050	g.chr9:101052880C>G	negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity							15.469553	KEEP	4	3	-1	7	7	4	3	-1	15.970072	7	7	0.3125	1	0	0	0	0	1	0	0	0	--	--		0	G				146	GBM-14-1456-TP	p.V938L	C	AGGCCCGAGACCATGACTCGG	NM_005458	NP_005449	101052880	O75899	GABR2_HUMAN	0			19	2968	-	G	G		Acute lymphoblastic leukemia(62;0.0527)	Missense_Mutation	938			Cytoplasmic (Potential).			
GABPB1	2553	broad.mit.edu	GRCh37	15	50593079	50593079	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs147105901	byFrequency	TCGA-06-6390-01	TCGA-06-6390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000220429.8:c.640G>A	p.Val214Ile	p.V214I	ENST00000220429		214	Gtt/Att	0			1			T	V/I	uc001zyb.2	protein_coding	YES	CCDS32239.1			640/1188									large_intestine(1)	1	c.(640-642)GTT>ATT			hmmpanther:PTHR24193:SF0,hmmpanther:PTHR24193	GA binding protein transcription factor, beta				ENSP00000220429		9-Jun										9-Jun	.		ENST00000220429	Transcript			positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	ENSG00000104064	g.chr15:50593079C>T	4074			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=GABP1_HUMAN&rb=136&re=220&var=V214I	NA	getma.org/?cm=var&var=hg19,15,50593079,C,T&fts=all	V214I	--	--	1																																		GABPB1_uc001zya.2_Missense_Mutation_p.V202I|GABPB1_uc010ufg.1_Missense_Mutation_p.V138I|GABPB1_uc001zyc.2_Missense_Mutation_p.V202I|GABPB1_uc001zyd.2_Missense_Mutation_p.V202I|GABPB1_uc001zye.2_Missense_Mutation_p.V214I|GABPB1_uc001zyf.2_Missense_Mutation_p.V202I		1		possibly_damaging(0.891)	p.V214I	NM_005254	NP_005245		tolerated(0.13)		GABP1_HUMAN	GABPB1	HGNC	Q06547	GABP1_HUMAN			H0YNZ0_HUMAN,F5H7I4_HUMAN		6	1064	-			UPI000012AFB3	214					SNV	GABPB1,missense_variant,p.Val202Ile,ENST00000380877,NM_005254.5,NM_016654.4;GABPB1,missense_variant,p.Val214Ile,ENST00000220429,;GABPB1,missense_variant,p.Val202Ile,ENST00000359031,NM_181427.3;GABPB1,missense_variant,p.Val138Ile,ENST00000543881,;GABPB1,missense_variant,p.Val202Ile,ENST00000560825,;GABPB1,missense_variant,p.Val202Ile,ENST00000396464,NM_016655.4;GABPB1,missense_variant,p.Val214Ile,ENST00000429662,NM_002041.4;GABPB1,missense_variant,p.Val40Ile,ENST00000561010,;GABPB1,downstream_gene_variant,,ENST00000558970,;GABPB1,downstream_gene_variant,,ENST00000558335,;GABPB1,downstream_gene_variant,,ENST00000559100,;	uc001zyb.2	c.640G>A	809/2726	1	1			c.640G>A						15	SNP	c.(640-642)GTT>ATT	13	13			large_intestine(1)	1	Broad	GA binding protein transcription factor, beta			50593079		0.348	ENSG00000104064	6052	g.chr15:50593079C>T	positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding							41.371143	KEEP	7	14	-1	40	67	7	14	-1	52.303976	40	67	0.182609	1	0	0	0	0	1	0	0	0	--	--		0	T			GABPB1_uc001zya.2_Missense_Mutation_p.V202I|GABPB1_uc010ufg.1_Missense_Mutation_p.V138I|GABPB1_uc001zyc.2_Missense_Mutation_p.V202I|GABPB1_uc001zyd.2_Missense_Mutation_p.V202I|GABPB1_uc001zye.2_Missense_Mutation_p.V214I|GABPB1_uc001zyf.2_Missense_Mutation_p.V202I	106	GBM-06-6390-TP	p.V214I	C	CCAAACTGAACAGCAGATACA	NM_005254	NP_005245	50593079	Q06547	GABP1_HUMAN	0			6	1064	-	T	T			Missense_Mutation	214						
GABPB1	2553		GRCh37	15	50593063	50593063	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000220429.8:c.656C>A	p.Ser219Tyr	p.S219Y	ENST00000220429		219	tCt/tAt	0																																																																																																																																																																																																																																												
GABRA1	2554	broad.mit.edu	GRCh37	5	161318009	161318009	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0145-01	TCGA-06-0145-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428797.2:c.809T>C	p.Val270Ala	p.V270A	ENST00000428797	NM_001127643.1	270	gTc/gCc	0			1			C	V/A	uc010jiw.2	protein_coding		CCDS4357.1			809/1371									ovary(2)|pancreas(1)	3	c.(808-810)GTC>GCC			Transmembrane_helices:TMhelix,hmmpanther:PTHR18945:SF23,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Gene3D:1.20.58.390,Superfamily_domains:SSF90112,Prints_domain:PR00253	gamma-aminobutyric acid (GABA) A receptor, alpha	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)			ENSP00000023897		11-Sep									COSM2149781	11-Sep	.		ENST00000023897	Transcript	1		gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	ENSG00000022355	g.chr5:161318009T>C	4075			MODERATE		2.74	medium	getma.org/?cm=msa&ty=f&p=GBRA1_HUMAN&rb=257&re=358&var=V270A	getma.org/pdb.php?prot=GBRA1_HUMAN&from=257&to=358&var=V270A	getma.org/?cm=var&var=hg19,5,161318009,T,C&fts=all	V270A	--	--	1																																		GABRA1_uc010jix.2_Missense_Mutation_p.V270A|GABRA1_uc010jiy.2_Missense_Mutation_p.V270A|GABRA1_uc003lyx.3_Missense_Mutation_p.V270A|GABRA1_uc010jiz.2_Missense_Mutation_p.V270A|GABRA1_uc010jja.2_Missense_Mutation_p.V270A|GABRA1_uc010jjb.2_Missense_Mutation_p.V270A	1			benign(0.135)	p.V270A	NM_000806	NP_000797		deleterious(0)	1	GBRA1_HUMAN	GABRA1	HGNC	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	E5RK60_HUMAN,E5RJS3_HUMAN		9	1277	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	UPI000012AF95	270			Helical; (Probable).		SNV	GABRA1,missense_variant,p.Val270Ala,ENST00000428797,NM_001127643.1;GABRA1,missense_variant,p.Val270Ala,ENST00000444819,;GABRA1,missense_variant,p.Val270Ala,ENST00000437025,NM_001127645.1;GABRA1,missense_variant,p.Val270Ala,ENST00000420560,NM_001127648.1;GABRA1,missense_variant,p.Val270Ala,ENST00000393943,NM_001127644.1;GABRA1,missense_variant,p.Val270Ala,ENST00000023897,NM_000806.5;GABRA1,downstream_gene_variant,,ENST00000519542,;	uc010jiw.2	c.809T>C	1277/2083	4	4			c.809T>C						5	SNP	c.(808-810)GTC>GCC	33	33			ovary(2)|pancreas(1)	3	Broad	gamma-aminobutyric acid (GABA) A receptor, alpha		Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	161318009		0.408	ENSG00000022355	6054	g.chr5:161318009T>C	gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity							118.819756	KEEP	24	16	-1	30	31	24	16	-1	119.787892	30	31	0.388889	1	0	0	0	0	1	0	0	0	--	--		0	C			GABRA1_uc010jix.2_Missense_Mutation_p.V270A|GABRA1_uc010jiy.2_Missense_Mutation_p.V270A|GABRA1_uc003lyx.3_Missense_Mutation_p.V270A|GABRA1_uc010jiz.2_Missense_Mutation_p.V270A|GABRA1_uc010jja.2_Missense_Mutation_p.V270A|GABRA1_uc010jjb.2_Missense_Mutation_p.V270A	23	GBM-06-0145-TP	p.V270A	T	CTCTCACAAGTCTCCTTCTGG	NM_000806	NP_000797	161318009	P14867	GBRA1_HUMAN	0	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	9	1277	+	C	C	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Missense_Mutation	270			Helical; (Probable).			
GABRA1	2554	broad.mit.edu	GRCh37	5	161324264	161324264	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01	TCGA-06-5415-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428797.2:c.1207G>A	p.Glu403Lys	p.E403K	ENST00000428797	NM_001127643.1	403	Gaa/Aaa	0			1			A	E/K	uc010jiw.2	protein_coding		CCDS4357.1			1207/1371									ovary(2)|pancreas(1)	3	c.(1207-1209)GAA>AAA			Low_complexity_(Seg):seg,hmmpanther:PTHR18945:SF23,hmmpanther:PTHR18945,Pfam_domain:PF02932,Superfamily_domains:SSF90112	gamma-aminobutyric acid (GABA) A receptor, alpha	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)			ENSP00000023897		11-Nov	8.24E-06					1.50E-05			rs775157869,COSM225223	11-Nov	.		ENST00000023897	Transcript	1		gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	ENSG00000022355	g.chr5:161324264G>A	4075			MODERATE		0.23	neutral	getma.org/?cm=msa&ty=f&p=GBRA1_HUMAN&rb=346&re=439&var=E403K	NA	getma.org/?cm=var&var=hg19,5,161324264,G,A&fts=all	E403K	--	--	1																																		GABRA1_uc010jix.2_Missense_Mutation_p.E403K|GABRA1_uc010jiy.2_Missense_Mutation_p.E403K|GABRA1_uc003lyx.3_Missense_Mutation_p.E403K|GABRA1_uc010jiz.2_Missense_Mutation_p.E403K|GABRA1_uc010jja.2_Missense_Mutation_p.E403K|GABRA1_uc010jjb.2_Missense_Mutation_p.E403K	0,1			benign(0.002)	p.E403K	NM_000806	NP_000797		tolerated(0.19)	0,1	GBRA1_HUMAN	GABRA1	HGNC	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	E5RK60_HUMAN,E5RJS3_HUMAN		11	1675	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	UPI000012AF95	403			Cytoplasmic (Probable).		SNV	GABRA1,missense_variant,p.Glu403Lys,ENST00000428797,NM_001127643.1;GABRA1,missense_variant,p.Glu403Lys,ENST00000444819,;GABRA1,missense_variant,p.Glu403Lys,ENST00000437025,NM_001127645.1;GABRA1,missense_variant,p.Glu403Lys,ENST00000420560,NM_001127648.1;GABRA1,missense_variant,p.Glu403Lys,ENST00000393943,NM_001127644.1;GABRA1,missense_variant,p.Glu403Lys,ENST00000023897,NM_000806.5;	uc010jiw.2	c.1207G>A	1675/2083	2	2			c.1207G>A						5	SNP	c.(1207-1209)GAA>AAA	33	33			ovary(2)|pancreas(1)	3	Broad	gamma-aminobutyric acid (GABA) A receptor, alpha		Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	161324264		0.473	ENSG00000022355	6054	g.chr5:161324264G>A	gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity							269.227769	KEEP	45	57	-1	68	91	45	57	-1	271.246062	68	91	0.4	1	0	0	0	0	1	0	0	0	--	--		0	A			GABRA1_uc010jix.2_Missense_Mutation_p.E403K|GABRA1_uc010jiy.2_Missense_Mutation_p.E403K|GABRA1_uc003lyx.3_Missense_Mutation_p.E403K|GABRA1_uc010jiz.2_Missense_Mutation_p.E403K|GABRA1_uc010jja.2_Missense_Mutation_p.E403K|GABRA1_uc010jjb.2_Missense_Mutation_p.E403K	98	GBM-06-5415-TP	p.E403K	G	GGTCAAGCCCGAAACAAAACC	NM_000806	NP_000797	161324264	P14867	GBRA1_HUMAN	0	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	11	1675	+	A	A	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Missense_Mutation	403			Cytoplasmic (Probable).			
GABRA1	0	broad.mit.edu	GRCh37	5	161324208	161324208	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2519-01	TCGA-27-2519-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000023897.6:c.1151C>T	p.Pro384Leu	p.P384L	ENST00000023897	NM_000806.5	384	cCg/cTg	0			1			T	P/L	uc010jiw.2	protein_coding		CCDS4357.1			1151/1371									ovary(2)|pancreas(1)	3	c.(1150-1152)CCG>CTG			hmmpanther:PTHR18945:SF23,hmmpanther:PTHR18945,Superfamily_domains:SSF90112,Prints_domain:PR01614	gamma-aminobutyric acid (GABA) A receptor, alpha	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)			ENSP00000023897		11-Nov									rs755336024,COSM3410086	11-Nov	.		ENST00000023897	Transcript	1		gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	ENSG00000022355	g.chr5:161324208C>T	4075			MODERATE		1.28	low	getma.org/?cm=msa&ty=f&p=GBRA1_HUMAN&rb=346&re=439&var=P384L	NA	getma.org/?cm=var&var=hg19,5,161324208,C,T&fts=all	P384L	--	--	1																																		GABRA1_uc010jix.2_Missense_Mutation_p.P384L|GABRA1_uc010jiy.2_Missense_Mutation_p.P384L|GABRA1_uc003lyx.3_Missense_Mutation_p.P384L|GABRA1_uc010jiz.2_Missense_Mutation_p.P384L|GABRA1_uc010jja.2_Missense_Mutation_p.P384L|GABRA1_uc010jjb.2_Missense_Mutation_p.P384L	0,1			probably_damaging(0.999)	p.P384L	NM_000806	NP_000797		tolerated(0.05)	0,1	GBRA1_HUMAN	GABRA1	HGNC	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	E5RK60_HUMAN,E5RJS3_HUMAN		11	1619	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	UPI000012AF95	384			Cytoplasmic (Probable).		SNV	GABRA1,missense_variant,p.Pro384Leu,ENST00000428797,NM_001127643.1;GABRA1,missense_variant,p.Pro384Leu,ENST00000444819,;GABRA1,missense_variant,p.Pro384Leu,ENST00000437025,NM_001127645.1;GABRA1,missense_variant,p.Pro384Leu,ENST00000420560,NM_001127648.1;GABRA1,missense_variant,p.Pro384Leu,ENST00000393943,NM_001127644.1;GABRA1,missense_variant,p.Pro384Leu,ENST00000023897,NM_000806.5;	uc010jiw.2	c.1151C>T	1619/2083	2	2			c.1151C>T						5	SNP	c.(1150-1152)CCG>CTG	17	17			ovary(2)|pancreas(1)	3	Broad	gamma-aminobutyric acid (GABA) A receptor, alpha		Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	161324208		0.458	ENSG00000022355	6054	g.chr5:161324208C>T	gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity							123.694278	KEEP	35	23	-1	71	102	35	23	-1	135.739839	71	102	0.245098	1	0	0	0	0	1	0	0	0	--	--		0	T			GABRA1_uc010jix.2_Missense_Mutation_p.P384L|GABRA1_uc010jiy.2_Missense_Mutation_p.P384L|GABRA1_uc003lyx.3_Missense_Mutation_p.P384L|GABRA1_uc010jiz.2_Missense_Mutation_p.P384L|GABRA1_uc010jja.2_Missense_Mutation_p.P384L|GABRA1_uc010jjb.2_Missense_Mutation_p.P384L	199	GBM-27-2519-TP	p.P384L	C	AGGGGCGACCCGGGCTTAGCC	NM_000806	NP_000797	161324208	P14867	GBRA1_HUMAN	0	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	11	1619	+	T	T	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Missense_Mutation	384			Cytoplasmic (Probable).			
GABRA1	0	broad.mit.edu	GRCh37	5	161300296	161300296	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-27-2528-01	TCGA-27-2528-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000023897.6:c.429C>A	p.Asn143Lys	p.N143K	ENST00000023897	NM_000806.5	143	aaC/aaA	0			1			A	N/K	uc010jiw.2	protein_coding		CCDS4357.1			429/1371									ovary(2)|pancreas(1)	3	c.(427-429)AAC>AAA			hmmpanther:PTHR18945:SF23,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Gene3D:2.70.170.10,Superfamily_domains:0038932	gamma-aminobutyric acid (GABA) A receptor, alpha	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)			ENSP00000023897		11-Jun									COSM3410085	11-Jun	.		ENST00000023897	Transcript	1		gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	ENSG00000022355	g.chr5:161300296C>A	4075			MODERATE		3.635	high	getma.org/?cm=msa&ty=f&p=GBRA1_HUMAN&rb=42&re=250&var=N143K	getma.org/pdb.php?prot=GBRA1_HUMAN&from=42&to=250&var=N143K	getma.org/?cm=var&var=hg19,5,161300296,C,A&fts=all	N143K	--	--	1																																		GABRA1_uc010jix.2_Missense_Mutation_p.N143K|GABRA1_uc010jiy.2_Missense_Mutation_p.N143K|GABRA1_uc003lyx.3_Missense_Mutation_p.N143K|GABRA1_uc010jiz.2_Missense_Mutation_p.N143K|GABRA1_uc010jja.2_Missense_Mutation_p.N143K|GABRA1_uc010jjb.2_Missense_Mutation_p.N143K	1			benign(0.019)	p.N143K	NM_000806	NP_000797		deleterious(0.03)	1	GBRA1_HUMAN	GABRA1	HGNC	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	E5RK60_HUMAN,E5RJS3_HUMAN		6	897	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	UPI000012AF95	143			Extracellular (Probable).		SNV	GABRA1,missense_variant,p.Asn143Lys,ENST00000428797,NM_001127643.1;GABRA1,missense_variant,p.Asn143Lys,ENST00000444819,;GABRA1,missense_variant,p.Asn143Lys,ENST00000437025,NM_001127645.1;GABRA1,missense_variant,p.Asn143Lys,ENST00000420560,NM_001127648.1;GABRA1,missense_variant,p.Asn143Lys,ENST00000393943,NM_001127644.1;GABRA1,missense_variant,p.Asn143Lys,ENST00000023897,NM_000806.5;GABRA1,downstream_gene_variant,,ENST00000519621,;GABRA1,non_coding_transcript_exon_variant,,ENST00000519542,;	uc010jiw.2	c.429C>A	897/2083	1	1			c.429C>A						5	SNP	c.(427-429)AAC>AAA	59	59			ovary(2)|pancreas(1)	3	Broad	gamma-aminobutyric acid (GABA) A receptor, alpha		Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	161300296		0.473	ENSG00000022355	6054	g.chr5:161300296C>A	gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity							51.560725	KEEP	6	15	0.714285714	31	31	6	15	0.714285714	55.758984	31	31	0.25641	1	0	0	0	0	1	0	0	0	--	--		0	A			GABRA1_uc010jix.2_Missense_Mutation_p.N143K|GABRA1_uc010jiy.2_Missense_Mutation_p.N143K|GABRA1_uc003lyx.3_Missense_Mutation_p.N143K|GABRA1_uc010jiz.2_Missense_Mutation_p.N143K|GABRA1_uc010jja.2_Missense_Mutation_p.N143K|GABRA1_uc010jjb.2_Missense_Mutation_p.N143K	205	GBM-27-2528-TP	p.N143K	C	CCATGCCCAACAAACTCCTGC	NM_000806	NP_000797	161300296	P14867	GBRA1_HUMAN	0	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	6	897	+	A	A	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Missense_Mutation	143			Extracellular (Probable).			
GABRA1	2554		GRCh37	5	161300157	161300157	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000428797.2:c.290G>A	p.Trp97Ter	p.W97*	ENST00000428797	NM_001127643.1	97	tGg/tAg	0																																																																																																																																																																																																																																												
GABRA2	0	broad.mit.edu	GRCh37	4	46252347	46252347	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01	TCGA-32-4208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356504.1:c.1334C>T	p.Pro445Leu	p.P445L	ENST00000356504	NM_001114175.1	445	cCt/cTt	0			1			A	P/L	uc003gxc.3	protein_coding		CCDS3471.1			1334/1356									ovary(2)|skin(2)	4	c.(1333-1335)CCT>CTT			Prints_domain:PR01079,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF218,Superfamily_domains:SSF90112	gamma-aminobutyric acid A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)			ENSP00000348897		9-Sep									COSM3409320	9-Sep	.		ENST00000356504	Transcript	1		gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	ENSG00000151834	g.chr4:46252347G>A	4076			MODERATE		1.155	low	getma.org/?cm=msa&ty=f&p=GBRA2_HUMAN&rb=408&re=451&var=P445L	NA	getma.org/?cm=var&var=hg19,4,46252347,G,A&fts=all	P445L	--	--	1																																		GABRA2_uc010igc.2_Missense_Mutation_p.P445L|GABRA2_uc011bzc.1_Missense_Mutation_p.P450L	1			possibly_damaging(0.844)	p.P445L	NM_001114175	NP_001107647		deleterious_low_confidence(0)	1	GBRA2_HUMAN	GABRA2	HGNC	P47869	GBRA2_HUMAN			Q4W5L8_HUMAN,D6RBL7_HUMAN,D6RBK9_HUMAN,D6RB77_HUMAN		9	2007	-			UPI000013DC88	445					SNV	GABRA2,missense_variant,p.Pro445Leu,ENST00000510861,;GABRA2,missense_variant,p.Pro445Leu,ENST00000514090,;GABRA2,missense_variant,p.Pro445Leu,ENST00000356504,NM_001114175.1;GABRA2,missense_variant,p.Pro445Leu,ENST00000381620,NM_000807.2;GABRA2,missense_variant,p.Pro450Leu,ENST00000540012,NM_001286827.1;GABRA2,missense_variant,p.Pro505Leu,ENST00000507069,;GABRA2,3_prime_UTR_variant,,ENST00000510233,;GABRA2,3_prime_UTR_variant,,ENST00000513005,;	uc003gxc.3	c.1334C>T	2007/2770	2	2			c.1334C>T						4	SNP	c.(1333-1335)CCT>CTT	41	41			ovary(2)|skin(2)	4	Broad	gamma-aminobutyric acid A receptor, alpha 2		Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	46252347		0.338	ENSG00000151834	6055	g.chr4:46252347G>A	gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity							258.439471	KEEP	35	49	-1	39	63	35	49	-1	258.505041	39	63	0.478528	1	0	0	0	0	1	0	0	0	--	--		0	A			GABRA2_uc010igc.2_Missense_Mutation_p.P445L|GABRA2_uc011bzc.1_Missense_Mutation_p.P450L	243	GBM-32-4208-TP	p.P445L	G	CCCTAATACAGGTTCTCTGTT	NM_001114175	NP_001107647	46252347	P47869	GBRA2_HUMAN	0			9	2007	-	A	A			Missense_Mutation	445						
GABRA3	0	broad.mit.edu	GRCh37	X	151533006	151533006	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-5222-01	TCGA-32-5222-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370314.4:c.37A>G	p.Ser13Gly	p.S13G	ENST00000370314	NM_000808.3	13	Agc/Ggc	0			1			C	S/G	uc010ntk.1	protein_coding	YES	CCDS14706.1			37/1479									ovary(1)	1	c.(37-39)AGC>GGC			Prints_domain:PR01616,Cleavage_site_(Signalp):SignalP-noTM	gamma-aminobutyric acid A receptor, alpha 3	Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)			ENSP00000359337		10-Feb									COSM3406085	10-Feb	.		ENST00000370314	Transcript	1		gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	ENSG00000011677	g.chrX:151533006T>C	4077			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=GBRA3_HUMAN&rb=1&re=66&var=S13G	NA	getma.org/?cm=var&var=hg19,X,151533006,T,C&fts=all	S13G	--	--	1																																			1	1		benign(0)	p.S13G	NM_000808	NP_000799		tolerated_low_confidence(0.3)	1	GBRA3_HUMAN	GABRA3	HGNC	P34903	GBRA3_HUMAN					2	277	-	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000002D730	13					SNV	GABRA3,missense_variant,p.Ser13Gly,ENST00000370314,NM_000808.3;GABRA3,missense_variant,p.Ser13Gly,ENST00000535043,;	uc010ntk.1	c.37A>G	276/3712	4	4			c.37A>G						23	SNP	c.(37-39)AGC>GGC	43	43			ovary(1)	1	Broad	gamma-aminobutyric acid A receptor, alpha 3		Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	151533006		0.423	ENSG00000011677	6056	g.chrX:151533006T>C	gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	NSCLC(142;2578 2613 10251 16743)			NSCLC(142;2578 2613 10251 16743)			499.244106	KEEP	67	90	-1	18	21	67	90	-1	513.902048	18	21	0.797753	1	0	0	0	0	1	0	0	0	--	--		0	C				249	GBM-32-5222-TP	p.S13G	T	ATCCCAAGGCTGGTCATGTAA	NM_000808	NP_000799	151533006	P34903	GBRA3_HUMAN	0			2	277	-	C	C	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	13						
GABRA4	2557	broad.mit.edu	GRCh37	4	46967126	46967126	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01	TCGA-02-2470-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264318.3:c.995C>T	p.Ser332Leu	p.S332L	ENST00000264318	NM_000809.3	332	tCg/tTg	0			1			A	S/L	uc003gxg.2	protein_coding	YES	CCDS3473.1			995/1665									ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4	c.(994-996)TCG>TTG			Transmembrane_helices:TMhelix,Prints_domain:PR00253,Superfamily_domains:SSF90112,Gene3D:1.20.58.390,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF393	gamma-aminobutyric acid A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)			ENSP00000264318		9-Aug									COSM2149104	9-Aug	.		ENST00000264318	Transcript			gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	ENSG00000109158	g.chr4:46967126G>A	4078			MODERATE		0.34	neutral	getma.org/?cm=msa&ty=f&p=GBRA4_HUMAN&rb=263&re=538&var=S332L	getma.org/pdb.php?prot=GBRA4_HUMAN&from=263&to=538&var=S332L	getma.org/?cm=var&var=hg19,4,46967126,G,A&fts=all	S332L	--	--	1																																			1	1		probably_damaging(0.999)	p.S332L	NM_000809	NP_000800		deleterious(0)	1	GBRA4_HUMAN	GABRA4	HGNC	P48169	GBRA4_HUMAN					8	1134	-			UPI0000074200	332			Helical; (Probable).		SNV	GABRA4,missense_variant,p.Ser332Leu,ENST00000264318,NM_000809.3,NM_001204266.1,NM_001204267.1;GABRA4,3_prime_UTR_variant,,ENST00000508560,;GABRA4,3_prime_UTR_variant,,ENST00000511523,;	uc003gxg.2	c.995C>T	1978/11973	2	2			c.995C>T						4	SNP	c.(994-996)TCG>TTG	29	29			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4	Broad	gamma-aminobutyric acid A receptor, alpha 4		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	46967126		0.458	ENSG00000109158	6057	g.chr4:46967126G>A	gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	Ovarian(6;283 369 8234 12290 33402)			Ovarian(6;283 369 8234 12290 33402)			93.834558	KEEP	21	17	-1	44	67	21	17	-1	101.319671	44	67	0.257143	1	0	0	0	0	1	0	0	0	--	--		0	A				5	GBM-02-2470-TP	p.S332L	G	GATAAGGGCCGAAAATACAAA	NM_000809	NP_000800	46967126	P48169	GBRA4_HUMAN	0			8	1134	-	A	A			Missense_Mutation	332			Helical; (Probable).			
GABRA4	2557	broad.mit.edu	GRCh37	4	46973176	46973176	+	synonymous_variant	Silent	SNP	C	C	T	rs147092196		TCGA-06-0154-01	TCGA-06-0154-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264318.3:c.798G>A	p.Pro266=	p.P266=	ENST00000264318	NM_000809.3	266	ccG/ccA	0		A:0	1	A:0		T	P	uc003gxg.2	protein_coding	YES	CCDS3473.1			798/1665									ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4	c.(796-798)CCG>CCA			Transmembrane_helices:TMhelix,Prints_domain:PR00253,Superfamily_domains:SSF90112,Gene3D:1.20.58.390,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF393	gamma-aminobutyric acid A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	A:0		ENSP00000264318	A:0.001	9-Jul	8.24E-06					1.52E-05			rs541280213,COSM2149926	9-Jul	.		ENST00000264318	Transcript		A:0.0002	gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	ENSG00000109158	g.chr4:46973176C>T	4078			LOW								--	--	1																																			0,1	1			p.P266P	NM_000809	NP_000800	A:0		0,1	GBRA4_HUMAN	GABRA4	HGNC	P48169	GBRA4_HUMAN					7	937	-			UPI0000074200	266			Helical; (Probable).		SNV	GABRA4,synonymous_variant,p.=,ENST00000264318,NM_000809.3,NM_001204266.1,NM_001204267.1;GABRA4,3_prime_UTR_variant,,ENST00000508560,;GABRA4,3_prime_UTR_variant,,ENST00000502874,;GABRA4,intron_variant,,ENST00000511523,;	uc003gxg.2	c.798G>A	1781/11973	1	1			c.798G>A						4	SNP	c.(796-798)CCG>CCA	9	9			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4	Broad	gamma-aminobutyric acid A receptor, alpha 4		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	46973176		0.368	ENSG00000109158	6057	g.chr4:46973176C>T	gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	Ovarian(6;283 369 8234 12290 33402)			Ovarian(6;283 369 8234 12290 33402)			113.417482	KEEP	21	18	-1	37	38	21	18	-1	115.508273	37	38	0.351852	1	0	0	0	0	0	0	1	0	--	--		0	T				26	GBM-06-0154-TP	p.P266P	C	TCATAATGCACGGAATATAGG	NM_000809	NP_000800	46973176	P48169	GBRA4_HUMAN	0			7	937	-	T	T			Silent	266			Helical; (Probable).			
GABRA4	2557	broad.mit.edu	GRCh37	4	46930680	46930680	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0190-01	TCGA-06-0190-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264318.3:c.1227T>C	p.His409=	p.H409=	ENST00000264318	NM_000809.3	409	caT/caC	0			1			G	H	uc003gxg.2	protein_coding	YES	CCDS3473.1			1227/1665									ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4	c.(1225-1227)CAT>CAC			TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF393	gamma-aminobutyric acid A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)			ENSP00000264318		9-Sep									COSM3409321	9-Sep	.		ENST00000264318	Transcript			gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	ENSG00000109158	g.chr4:46930680A>G	4078			LOW								--	--	1																																			1	1			p.H409H	NM_000809	NP_000800			1	GBRA4_HUMAN	GABRA4	HGNC	P48169	GBRA4_HUMAN					9	1366	-			UPI0000074200	409			Cytoplasmic (Probable).		SNV	GABRA4,synonymous_variant,p.=,ENST00000264318,NM_000809.3,NM_001204266.1,NM_001204267.1;GABRA4,3_prime_UTR_variant,,ENST00000508560,;GABRA4,3_prime_UTR_variant,,ENST00000511523,;	uc003gxg.2	c.1227T>C	2210/11973	3	3			c.1227T>C						4	SNP	c.(1225-1227)CAT>CAC	8	8			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4	Broad	gamma-aminobutyric acid A receptor, alpha 4		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	46930680		0.418	ENSG00000109158	6057	g.chr4:46930680A>G	gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	Ovarian(6;283 369 8234 12290 33402)			Ovarian(6;283 369 8234 12290 33402)			116.45654	KEEP	19	20	-1	38	56	19	20	-1	121.33693	38	56	0.290323	1	0	0	0	0	0	0	1	0	--	--		0	G				43	GBM-06-0190-TP	p.H409H	A	ATTTGCTTGAATGGTTTCCCA	NM_000809	NP_000800	46930680	P48169	GBRA4_HUMAN	0			9	1366	-	G	G			Silent	409			Cytoplasmic (Probable).			
GABRA4	0	broad.mit.edu	GRCh37	4	46979123	46979123	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01	TCGA-41-3392-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264318.3:c.532G>A	p.Asp178Asn	p.D178N	ENST00000264318	NM_000809.3	178	Gat/Aat	0			1			T	D/N	uc003gxg.2	protein_coding	YES	CCDS3473.1			532/1665									ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4	c.(532-534)GAT>AAT			Prints_domain:PR00252,Superfamily_domains:0038932,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Pfam_domain:PF02931,PROSITE_patterns:PS00236,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF393	gamma-aminobutyric acid A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)			ENSP00000264318		9-May									COSM3409323	9-May	.		ENST00000264318	Transcript			gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	ENSG00000109158	g.chr4:46979123C>T	4078			MODERATE		0.41	neutral	getma.org/?cm=msa&ty=f&p=GBRA4_HUMAN&rb=48&re=256&var=D178N	getma.org/pdb.php?prot=GBRA4_HUMAN&from=48&to=256&var=D178N	getma.org/?cm=var&var=hg19,4,46979123,C,T&fts=all	D178N	--	--	1																																			1	1		benign(0.099)	p.D178N	NM_000809	NP_000800		tolerated(0.58)	1	GBRA4_HUMAN	GABRA4	HGNC	P48169	GBRA4_HUMAN					5	671	-			UPI0000074200	178			Extracellular (Probable).		SNV	GABRA4,missense_variant,p.Asp178Asn,ENST00000264318,NM_000809.3,NM_001204266.1,NM_001204267.1;GABRA4,3_prime_UTR_variant,,ENST00000508560,;GABRA4,3_prime_UTR_variant,,ENST00000511523,;GABRA4,3_prime_UTR_variant,,ENST00000502874,;	uc003gxg.2	c.532G>A	1515/11973	2	2			c.532G>A						4	SNP	c.(532-534)GAT>AAT	24	24			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4	Broad	gamma-aminobutyric acid A receptor, alpha 4		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	46979123		0.333	ENSG00000109158	6057	g.chr4:46979123C>T	gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	Ovarian(6;283 369 8234 12290 33402)			Ovarian(6;283 369 8234 12290 33402)			100.693594	KEEP	23	18	-1	19	26	23	18	-1	100.772504	19	26	0.463768	1	0	0	0	0	1	0	0	0	--	--		0	T				254	GBM-41-3392-TP	p.D178N	C	ATGGGAAAATCCACCAATCTC	NM_000809	NP_000800	46979123	P48169	GBRA4_HUMAN	0			5	671	-	T	T			Missense_Mutation	178			Extracellular (Probable).			
GABRA4	2557		GRCh37	4	46930475	46930475	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000264318.3:c.1432G>A	p.Val478Met	p.V478M	ENST00000264318	NM_000809.3	478	Gtg/Atg	0																																																																																																																																																																																																																																												
GABRA5	2558	broad.mit.edu	GRCh37	15	27182399	27182399	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335625.5:c.648G>A	p.Ala216=	p.A216=	ENST00000335625	NM_000810.3	216	gcG/gcA	0			1			A	A	uc001zbd.1	protein_coding	YES	CCDS45194.1			648/1389									ovary(1)	1	c.(646-648)GCG>GCA			hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF215,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Superfamily_domains:0038932	gamma-aminobutyric acid A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)			ENSP00000335592		11-Aug	8.26E-06					1.50E-05			rs778210544,COSM1372195	11-Aug	.		ENST00000335625	Transcript			gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	ENSG00000186297	g.chr15:27182399G>A	4079			LOW								--	--	1																																		GABRB3_uc001zbb.2_Intron	0,1	1			p.A216A	NM_000810	NP_000801			0,1	GBRA5_HUMAN	GABRA5	HGNC	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	G3V408_HUMAN,G3V2Q9_HUMAN,G3V2K2_HUMAN,G3V2G8_HUMAN,G3V296_HUMAN,B4E1A2_HUMAN		9	987	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	UPI000002D731	216			Extracellular (Potential).		SNV	GABRA5,synonymous_variant,p.=,ENST00000335625,NM_000810.3;GABRA5,synonymous_variant,p.=,ENST00000400081,NM_001165037.1;GABRA5,synonymous_variant,p.=,ENST00000355395,;GABRB3,intron_variant,,ENST00000541819,;GABRA5,downstream_gene_variant,,ENST00000555182,;	uc001zbd.1	c.648G>A	1536/3251	2	2			c.648G>A						15	SNP	c.(646-648)GCG>GCA	33	33			ovary(1)	1	Broad	gamma-aminobutyric acid A receptor, alpha 5		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	27182399		0.577	ENSG00000186297	6058	g.chr15:27182399G>A	gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity							79.78853	KEEP	14	14	-1	42	29	14	14	-1	83.300762	42	29	0.293478	1	0	0	0	0	0	0	1	0	--	--		0	A			GABRB3_uc001zbb.2_Intron	26	GBM-06-0154-TP	p.A216A	G	TGGTGGTGGCGGAAGATGGCT	NM_000810	NP_000801	27182399	P31644	GBRA5_HUMAN	0		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	9	987	+	A	A		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	Silent	216			Extracellular (Potential).			
GABRA5	2558	broad.mit.edu	GRCh37	15	27193227	27193227	+	synonymous_variant	Silent	SNP	T	T	A			TCGA-06-0214-01	TCGA-06-0214-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335625.5:c.1236T>A	p.Thr412=	p.T412=	ENST00000335625	NM_000810.3	412	acT/acA	0			1			A	T	uc001zbd.1	protein_coding	YES	CCDS45194.1			1236/1389									ovary(1)	1	c.(1234-1236)ACT>ACA			Low_complexity_(Seg):seg,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF215,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Superfamily_domains:SSF90112	gamma-aminobutyric acid A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)			ENSP00000335592		11-Nov									COSM3401657	11-Nov	.		ENST00000335625	Transcript			gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	ENSG00000186297	g.chr15:27193227T>A	4079			LOW								--	--	1																																		GABRA5_uc001zbe.1_RNA	1	1			p.T412T	NM_000810	NP_000801			1	GBRA5_HUMAN	GABRA5	HGNC	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	G3V408_HUMAN,G3V2Q9_HUMAN,G3V2K2_HUMAN,G3V2G8_HUMAN,G3V296_HUMAN,B4E1A2_HUMAN		12	1575	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	UPI000002D731	412			Cytoplasmic (Potential).		SNV	GABRA5,synonymous_variant,p.=,ENST00000335625,NM_000810.3;GABRA5,synonymous_variant,p.=,ENST00000400081,NM_001165037.1;GABRA5,synonymous_variant,p.=,ENST00000355395,;	uc001zbd.1	c.1236T>A	2124/3251	2	2			c.1236T>A						15	SNP	c.(1234-1236)ACT>ACA	32	32			ovary(1)	1	Broad	gamma-aminobutyric acid A receptor, alpha 5		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	27193227		0.453	ENSG00000186297	6058	g.chr15:27193227T>A	gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity							19.214707	KEEP	3	4	-1	9	13	3	4	-1	20.148055	9	13	0.291667	1	0	0	0	0	0	0	1	0	--	--		0	A			GABRA5_uc001zbe.1_RNA	50	GBM-06-0214-TP	p.T412T	T	AAGAGAAGACTTCTGAAAGCA	NM_000810	NP_000801	27193227	P31644	GBRA5_HUMAN	0		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	12	1575	+	A	A		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	Silent	412			Cytoplasmic (Potential).			
GABRA5	2558	broad.mit.edu	GRCh37	15	27114460	27114460	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0750-01	TCGA-06-0750-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335625.5:c.65T>C	p.Met22Thr	p.M22T	ENST00000335625	NM_000810.3	22	aTg/aCg	0			1			C	M/T	uc001zbd.1	protein_coding	YES	CCDS45194.1			65/1389									ovary(1)	1	c.(64-66)ATG>ACG			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF215,Prints_domain:PR01618	gamma-aminobutyric acid A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)			ENSP00000335592		11-Mar									COSM2151946	11-Mar	.		ENST00000335625	Transcript			gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	ENSG00000186297	g.chr15:27114460T>C	4079			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=GBRA5_HUMAN&rb=1&re=48&var=M22T	NA	getma.org/?cm=var&var=hg19,15,27114460,T,C&fts=all	M22T	--	--	1																																		GABRB3_uc001zbb.2_Intron	1	1		benign(0)	p.M22T	NM_000810	NP_000801		tolerated_low_confidence(0.25)	1	GBRA5_HUMAN	GABRA5	HGNC	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	G3V408_HUMAN,G3V2Q9_HUMAN,G3V2K2_HUMAN,G3V2G8_HUMAN,G3V296_HUMAN,B4E1A2_HUMAN		4	404	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	UPI000002D731	22					SNV	GABRA5,missense_variant,p.Met22Thr,ENST00000335625,NM_000810.3;GABRA5,missense_variant,p.Met22Thr,ENST00000400081,NM_001165037.1;GABRA5,missense_variant,p.Met22Thr,ENST00000355395,;GABRA5,missense_variant,p.Met22Thr,ENST00000554596,;GABRA5,missense_variant,p.Met22Thr,ENST00000554038,;GABRA5,missense_variant,p.Met22Thr,ENST00000554599,;GABRB3,intron_variant,,ENST00000541819,;GABRA5,intron_variant,,ENST00000555182,;GABRA5,downstream_gene_variant,,ENST00000555060,;GABRA5,non_coding_transcript_exon_variant,,ENST00000557449,;GABRA5,non_coding_transcript_exon_variant,,ENST00000557484,;	uc001zbd.1	c.65T>C	953/3251	4	4			c.65T>C						15	SNP	c.(64-66)ATG>ACG	43	43			ovary(1)	1	Broad	gamma-aminobutyric acid A receptor, alpha 5		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	27114460		0.388	ENSG00000186297	6058	g.chr15:27114460T>C	gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity							182.861305	KEEP	43	32	-1	69	57	43	32	-1	185.548245	69	57	0.370166	1	0	0	0	0	1	0	0	0	--	--		0	C			GABRB3_uc001zbb.2_Intron	70	GBM-06-0750-TP	p.M22T	T	TGTATTTCCATGAACTTATCC	NM_000810	NP_000801	27114460	P31644	GBRA5_HUMAN	0		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	4	404	+	C	C		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	Missense_Mutation	22						
GABRA5	0	broad.mit.edu	GRCh37	15	27193304	27193304	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6700-01	TCGA-06-6700-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335625.5:c.1313G>A	p.Gly438Asp	p.G438D	ENST00000335625	NM_000810.3	438	gGc/gAc	0			1			A	G/D	uc001zbd.1	protein_coding	YES	CCDS45194.1			1313/1389									ovary(1)	1	c.(1312-1314)GGC>GAC			Transmembrane_helices:TMhelix,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF215,TIGRFAM_domain:TIGR00860,Gene3D:1.20.58.390,Pfam_domain:PF02932,Superfamily_domains:SSF90112,Prints_domain:PR00253	gamma-aminobutyric acid A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)			ENSP00000335592		11-Nov									COSM3401658	11-Nov	.		ENST00000335625	Transcript			gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	ENSG00000186297	g.chr15:27193304G>A	4079			MODERATE		2.11	medium	getma.org/?cm=msa&ty=f&p=GBRA5_HUMAN&rb=359&re=445&var=G438D	getma.org/pdb.php?prot=GBRA5_HUMAN&from=359&to=445&var=G438D	getma.org/?cm=var&var=hg19,15,27193304,G,A&fts=all	G438D	--	--	1																																		GABRA5_uc001zbe.1_RNA	1	1		probably_damaging(1)	p.G438D	NM_000810	NP_000801		deleterious(0.03)	1	GBRA5_HUMAN	GABRA5	HGNC	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	G3V408_HUMAN,G3V2Q9_HUMAN,G3V2K2_HUMAN,G3V2G8_HUMAN,G3V296_HUMAN,B4E1A2_HUMAN		12	1652	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	UPI000002D731	438			Helical; (Potential).		SNV	GABRA5,missense_variant,p.Gly438Asp,ENST00000335625,NM_000810.3;GABRA5,missense_variant,p.Gly438Asp,ENST00000400081,NM_001165037.1;GABRA5,missense_variant,p.Gly438Asp,ENST00000355395,;	uc001zbd.1	c.1313G>A	2201/3251	2	2			c.1313G>A						15	SNP	c.(1312-1314)GGC>GAC	43	43			ovary(1)	1	Broad	gamma-aminobutyric acid A receptor, alpha 5		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	27193304		0.438	ENSG00000186297	6058	g.chr15:27193304G>A	gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity							20.285003	KEEP	2	6	-1	16	10	2	6	-1	21.929617	16	10	0.258065	1	0	0	0	0	1	0	0	0	--	--		0	A			GABRA5_uc001zbe.1_RNA	114	GBM-06-6700-TP	p.G438D	G	GTCTTGTTCGGCACTTTCAAC	NM_000810	NP_000801	27193304	P31644	GBRA5_HUMAN	0		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	12	1652	+	A	A		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	Missense_Mutation	438			Helical; (Potential).			
GABRA5	0	broad.mit.edu	GRCh37	15	27128491	27128491	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-41-3393-01	TCGA-41-3393-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335625.5:c.284C>A	p.Thr95Asn	p.T95N	ENST00000335625	NM_000810.3	95	aCc/aAc	0			1			A	T/N	uc001zbd.1	protein_coding	YES	CCDS45194.1			284/1389									ovary(1)	1	c.(283-285)ACC>AAC			hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF215,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Superfamily_domains:0038932,Prints_domain:PR00252	gamma-aminobutyric acid A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)			ENSP00000335592		11-Jun									COSM3401656	11-Jun	.		ENST00000335625	Transcript			gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	ENSG00000186297	g.chr15:27128491C>A	4079			MODERATE		2.915	medium	getma.org/?cm=msa&ty=f&p=GBRA5_HUMAN&rb=49&re=257&var=T95N	getma.org/pdb.php?prot=GBRA5_HUMAN&from=49&to=257&var=T95N	getma.org/?cm=var&var=hg19,15,27128491,C,A&fts=all	T95N	--	--	1																																		GABRB3_uc001zbb.2_Intron	1	1		probably_damaging(0.999)	p.T95N	NM_000810	NP_000801		deleterious(0)	1	GBRA5_HUMAN	GABRA5	HGNC	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	G3V408_HUMAN,G3V2Q9_HUMAN,G3V2K2_HUMAN,G3V2G8_HUMAN,G3V296_HUMAN,B4E1A2_HUMAN		7	623	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	UPI000002D731	95			Extracellular (Potential).		SNV	GABRA5,missense_variant,p.Thr95Asn,ENST00000335625,NM_000810.3;GABRA5,missense_variant,p.Thr95Asn,ENST00000400081,NM_001165037.1;GABRA5,missense_variant,p.Thr95Asn,ENST00000355395,;GABRA5,missense_variant,p.Thr95Asn,ENST00000554596,;GABRA5,missense_variant,p.Thr95Asn,ENST00000554599,;GABRA5,missense_variant,p.Thr63Asn,ENST00000554083,;GABRA5,missense_variant,p.Thr63Asn,ENST00000555182,;GABRB3,intron_variant,,ENST00000541819,;GABRA5,downstream_gene_variant,,ENST00000554038,;GABRA5,intron_variant,,ENST00000557449,;	uc001zbd.1	c.284C>A	1172/3251	2	2			c.284C>A						15	SNP	c.(283-285)ACC>AAC	36	36			ovary(1)	1	Broad	gamma-aminobutyric acid A receptor, alpha 5		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	27128491		0.592	ENSG00000186297	6058	g.chr15:27128491C>A	gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity							152.218974	KEEP	30	32	0.516129032	89	81	30	32	0.516129032	161.396914	89	81	0.275862	1	0	0	0	0	1	0	0	0	--	--		0	A			GABRB3_uc001zbb.2_Intron	255	GBM-41-3393-TP	p.T95N	C	TAGGAGTACACCATAGACGTG	NM_000810	NP_000801	27128491	P31644	GBRA5_HUMAN	0		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	7	623	+	A	A		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	Missense_Mutation	95			Extracellular (Potential).			
GABRA6	2559	broad.mit.edu	GRCh37	5	161113291	161113291	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-02-2486-01	TCGA-02-2486-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274545.5:c.94G>T	p.Val32Phe	p.V32F	ENST00000274545		32	Gtc/Ttc	0			1			T	V/F	uc003lyu.2	protein_coding	YES	CCDS4356.1			94/1362									ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	c.(94-96)GTC>TTC			hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF335,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932,Prints_domain:PR01079	gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)			ENSP00000274545		9-Feb									COSM3410078	9-Feb	.		ENST00000274545	Transcript			gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	ENSG00000145863	g.chr5:161113291G>T	4080			MODERATE		-0.2	neutral	getma.org/?cm=msa&ty=f&p=GBRA6_HUMAN&rb=32&re=240&var=V32F	NA	getma.org/?cm=var&var=hg19,5,161113291,G,T&fts=all	V32F	--	--	1				TCGA Ovarian(5;0.080)																															1	1		benign(0.054)	p.V32F	NM_000811	NP_000802		tolerated(0.58)	1	GBRA6_HUMAN	GABRA6	HGNC	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Q71UU0_HUMAN		2	432	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	UPI000013DA14	32			Extracellular (Probable).		SNV	GABRA6,missense_variant,p.Val32Phe,ENST00000523217,NM_000811.2;GABRA6,missense_variant,p.Val32Phe,ENST00000274545,;GABRA6,upstream_gene_variant,,ENST00000520000,;GABRA6,upstream_gene_variant,,ENST00000523691,;GABRA6,upstream_gene_variant,,ENST00000517823,;RP11-348M17.2,downstream_gene_variant,,ENST00000521984,;GABRA6,non_coding_transcript_exon_variant,,ENST00000522269,;GABRA6,downstream_gene_variant,,ENST00000518888,;GABRA6,non_coding_transcript_exon_variant,,ENST00000524220,;GABRA6,upstream_gene_variant,,ENST00000521520,;	uc003lyu.2	c.94G>T	527/2128	2	2			c.94G>T						5	SNP	c.(94-96)GTC>TTC	29	29			ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Broad	gamma-aminobutyric acid A receptor, alpha 6		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	161113291		0.488	ENSG00000145863	6059	g.chr5:161113291G>T	gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity							144.853599	KEEP	29	22	0.568627451	66	49	29	22	0.568627451	150.273569	66	49	0.303797	1	0	0	0	0	1	0	0	0	--	--	TCGA Ovarian(5;0.080)	0	T				8	GBM-02-2486-TP	p.V32F	G	CTCAGAAAACGTCAGTCGGAT	NM_000811	NP_000802	161113291	Q16445	GBRA6_HUMAN	0	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	432	+	T	T	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Missense_Mutation	32			Extracellular (Probable).			
GABRA6	2559	broad.mit.edu	GRCh37	5	161119124	161119124	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5411-01	TCGA-06-5411-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274545.5:c.1004C>T	p.Ala335Val	p.A335V	ENST00000274545		335	gCc/gTc	0			1			T	A/V	uc003lyu.2	protein_coding	YES	CCDS4356.1			1004/1362									ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	c.(1003-1005)GCC>GTC			hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF335,Pfam_domain:PF02932,TIGRFAM_domain:TIGR00860,Gene3D:1.20.58.390,Superfamily_domains:SSF90112,Prints_domain:PR01619	gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)			ENSP00000274545		9-Aug	2.47E-05					4.50E-05			rs762584200,COSM2153136	9-Aug	.		ENST00000274545	Transcript			gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	ENSG00000145863	g.chr5:161119124C>T	4080			MODERATE		1.485	low	getma.org/?cm=msa&ty=f&p=GBRA6_HUMAN&rb=247&re=387&var=A335V	NA	getma.org/?cm=var&var=hg19,5,161119124,C,T&fts=all	A335V	--	--	1				TCGA Ovarian(5;0.080)																														GABRA6_uc003lyv.2_Missense_Mutation_p.A106V	0,1	1		benign(0.006)	p.A335V	NM_000811	NP_000802		tolerated(0.24)	0,1	GBRA6_HUMAN	GABRA6	HGNC	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Q71UU0_HUMAN		8	1342	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	UPI000013DA14	335			Cytoplasmic (Probable).		SNV	GABRA6,missense_variant,p.Ala325Val,ENST00000523217,NM_000811.2;GABRA6,missense_variant,p.Ala335Val,ENST00000274545,;GABRA6,downstream_gene_variant,,ENST00000520000,;GABRA6,downstream_gene_variant,,ENST00000523691,;GABRA6,downstream_gene_variant,,ENST00000517823,;RP11-348M17.2,upstream_gene_variant,,ENST00000521984,;GABRA6,downstream_gene_variant,,ENST00000522269,;GABRA6,non_coding_transcript_exon_variant,,ENST00000521520,;GABRA6,downstream_gene_variant,,ENST00000524220,;	uc003lyu.2	c.1004C>T	1437/2128	1	1			c.1004C>T						5	SNP	c.(1003-1005)GCC>GTC	5	5			ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Broad	gamma-aminobutyric acid A receptor, alpha 6		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	161119124		0.438	ENSG00000145863	6059	g.chr5:161119124C>T	gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity							53.004181	KEEP	20	16	-1	40	34	20	16	-1	57.871958	40	34	0.255556	1	0	0	0	0	1	0	0	0	--	--	TCGA Ovarian(5;0.080)	0	T			GABRA6_uc003lyv.2_Missense_Mutation_p.A106V	94	GBM-06-5411-TP	p.A335V	C	ACACAGAAGGCCAAAAGGAAG	NM_000811	NP_000802	161119124	Q16445	GBRA6_HUMAN	0	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1342	+	T	T	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Missense_Mutation	335			Cytoplasmic (Probable).			
GABRA6	2559	broad.mit.edu	GRCh37	5	161116076	161116076	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-5414-01	TCGA-06-5414-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274545.5:c.347C>A	p.Thr116Asn	p.T116N	ENST00000274545		116	aCc/aAc	0			1			A	T/N	uc003lyu.2	protein_coding	YES	CCDS4356.1			347/1362									ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	c.(346-348)ACC>AAC			hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF335,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Superfamily_domains:0038932,Prints_domain:PR00252	gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)			ENSP00000274545		9-Apr	8.24E-06					1.50E-05			rs780224018,COSM3410079	9-Apr	.		ENST00000274545	Transcript			gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	ENSG00000145863	g.chr5:161116076C>A	4080			MODERATE		3.795	high	getma.org/?cm=msa&ty=f&p=GBRA6_HUMAN&rb=32&re=240&var=T116N	getma.org/pdb.php?prot=GBRA6_HUMAN&from=32&to=240&var=T116N	getma.org/?cm=var&var=hg19,5,161116076,C,A&fts=all	T116N	--	--	1				TCGA Ovarian(5;0.080)																														GABRA6_uc003lyv.2_5'Flank	0,1	1		probably_damaging(0.999)	p.T116N	NM_000811	NP_000802		deleterious(0)	0,1	GBRA6_HUMAN	GABRA6	HGNC	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Q71UU0_HUMAN		4	685	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	UPI000013DA14	116			Extracellular (Probable).		SNV	GABRA6,missense_variant,p.Thr106Asn,ENST00000523217,NM_000811.2;GABRA6,missense_variant,p.Thr116Asn,ENST00000274545,;GABRA6,missense_variant,p.Thr56Asn,ENST00000520000,;GABRA6,missense_variant,p.Thr11Asn,ENST00000523691,;GABRA6,missense_variant,p.Thr63Asn,ENST00000517823,;RP11-348M17.2,intron_variant,,ENST00000521984,;GABRA6,downstream_gene_variant,,ENST00000522269,;GABRA6,downstream_gene_variant,,ENST00000518888,;GABRA6,non_coding_transcript_exon_variant,,ENST00000524220,;GABRA6,upstream_gene_variant,,ENST00000521520,;	uc003lyu.2	c.347C>A	780/2128	1	1			c.347C>A						5	SNP	c.(346-348)ACC>AAC	62	62			ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Broad	gamma-aminobutyric acid A receptor, alpha 6		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	161116076		0.418	ENSG00000145863	6059	g.chr5:161116076C>A	gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity							88.535198	KEEP	17	19	0.527777778	58	55	17	19	0.527777778	96.713826	58	55	0.25	1	0	0	0	0	1	0	0	0	--	--	TCGA Ovarian(5;0.080)	0	A			GABRA6_uc003lyv.2_5'Flank	97	GBM-06-5414-TP	p.T116N	C	ACGCCTGACACCTTTTTCAGA	NM_000811	NP_000802	161116076	Q16445	GBRA6_HUMAN	0	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	685	+	A	A	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Missense_Mutation	116			Extracellular (Probable).			
GABRA6	2559	broad.mit.edu	GRCh37	5	161119060	161119060	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6390-01	TCGA-06-6390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274545.5:c.940G>A	p.Val314Ile	p.V314I	ENST00000274545		314	Gtc/Atc	0			1			A	V/I	uc003lyu.2	protein_coding	YES	CCDS4356.1			940/1362								p.V314I(1)	ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	c.(940-942)GTC>ATC			Transmembrane_helices:TMhelix,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF335,Pfam_domain:PF02932,TIGRFAM_domain:TIGR00860,Gene3D:1.20.58.390,Superfamily_domains:SSF90112,Prints_domain:PR00253	gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)			ENSP00000274545		9-Aug									COSM74721	9-Aug	.		ENST00000274545	Transcript			gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	ENSG00000145863	g.chr5:161119060G>A	4080			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=GBRA6_HUMAN&rb=247&re=387&var=V314I	getma.org/pdb.php?prot=GBRA6_HUMAN&from=247&to=387&var=V314I	getma.org/?cm=var&var=hg19,5,161119060,G,A&fts=all	V314I	--	--	1				TCGA Ovarian(5;0.080)																														GABRA6_uc003lyv.2_Missense_Mutation_p.V85I	1	1		probably_damaging(0.997)	p.V314I	NM_000811	NP_000802		deleterious(0.05)	1	GBRA6_HUMAN	GABRA6	HGNC	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Q71UU0_HUMAN		8	1278	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	UPI000013DA14	314			Helical; (Probable).		SNV	GABRA6,missense_variant,p.Val304Ile,ENST00000523217,NM_000811.2;GABRA6,missense_variant,p.Val314Ile,ENST00000274545,;GABRA6,downstream_gene_variant,,ENST00000520000,;GABRA6,downstream_gene_variant,,ENST00000523691,;GABRA6,downstream_gene_variant,,ENST00000517823,;RP11-348M17.2,upstream_gene_variant,,ENST00000521984,;GABRA6,downstream_gene_variant,,ENST00000522269,;GABRA6,non_coding_transcript_exon_variant,,ENST00000521520,;GABRA6,downstream_gene_variant,,ENST00000524220,;	uc003lyu.2	c.940G>A	1373/2128	1	1			c.940G>A						5	SNP	c.(940-942)GTC>ATC	64	64		p.V314I(1)	ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Broad	gamma-aminobutyric acid A receptor, alpha 6		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	161119060		0.478	ENSG00000145863	6059	g.chr5:161119060G>A	gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity							54.0097	KEEP	10	14	-1	38	39	10	14	-1	60.089251	38	39	0.234043	1	0	0	0	0	1	0	0	0	--	--	TCGA Ovarian(5;0.080)	0	A			GABRA6_uc003lyv.2_Missense_Mutation_p.V85I	106	GBM-06-6390-TP	p.V314I	G	CTTTGCATTCGTCTTCTCTGC	NM_000811	NP_000802	161119060	Q16445	GBRA6_HUMAN	0	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1278	+	A	A	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Missense_Mutation	314			Helical; (Probable).			
GABRA6	0	broad.mit.edu	GRCh37	5	161116737	161116737	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs145469537		TCGA-19-2620-01	TCGA-19-2620-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274545.5:c.625G>T	p.Asp209Tyr	p.D209Y	ENST00000274545		209	Gat/Tat	0			1			T	D/Y	uc003lyu.2	protein_coding	YES	CCDS4356.1			625/1362								p.D209N(1)	ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	c.(625-627)GAT>TAT			hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF335,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Superfamily_domains:0038932,Prints_domain:PR01079	gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)			ENSP00000274545		9-Jun									COSM3410080	9-Jun	.		ENST00000274545	Transcript			gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	ENSG00000145863	g.chr5:161116737G>T	4080			MODERATE		2.2	medium	getma.org/?cm=msa&ty=f&p=GBRA6_HUMAN&rb=32&re=240&var=D209Y	getma.org/pdb.php?prot=GBRA6_HUMAN&from=32&to=240&var=D209Y	getma.org/?cm=var&var=hg19,5,161116737,G,T&fts=all	D209Y	--	--	1				TCGA Ovarian(5;0.080)																														GABRA6_uc003lyv.2_5'UTR	1	1		probably_damaging(1)	p.D209Y	NM_000811	NP_000802		deleterious(0.03)	1	GBRA6_HUMAN	GABRA6	HGNC	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Q71UU0_HUMAN		6	963	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	UPI000013DA14	209			Extracellular (Probable).		SNV	GABRA6,missense_variant,p.Asp199Tyr,ENST00000523217,NM_000811.2;GABRA6,missense_variant,p.Asp209Tyr,ENST00000274545,;GABRA6,missense_variant,p.Asp149Tyr,ENST00000520000,;GABRA6,missense_variant,p.Asp129Tyr,ENST00000523691,;GABRA6,missense_variant,p.Asp156Tyr,ENST00000517823,;RP11-348M17.2,upstream_gene_variant,,ENST00000521984,;GABRA6,downstream_gene_variant,,ENST00000522269,;GABRA6,downstream_gene_variant,,ENST00000518888,;GABRA6,non_coding_transcript_exon_variant,,ENST00000521520,;GABRA6,downstream_gene_variant,,ENST00000524220,;	uc003lyu.2	c.625G>T	1058/2128	2	2			c.625G>T						5	SNP	c.(625-627)GAT>TAT	41	41		p.D209N(1)	ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Broad	gamma-aminobutyric acid A receptor, alpha 6		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	161116737		0.378	ENSG00000145863	6059	g.chr5:161116737G>T	gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity							45.91581	KEEP	14	6	0.7	34	18	14	6	0.7	49.321013	34	18	0.264706	1	0	0	0	0	1	0	0	0	--	--	TCGA Ovarian(5;0.080)	0	T			GABRA6_uc003lyv.2_5'UTR	162	GBM-19-2620-TP	p.D209Y	G	TCTCCAGTATGATCTGATTGG	NM_000811	NP_000802	161116737	Q16445	GBRA6_HUMAN	0	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		6	963	+	T	T	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Missense_Mutation	209			Extracellular (Probable).			
GABRA6	0	broad.mit.edu	GRCh37	5	161128647	161128647	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-26-6173-01	TCGA-26-6173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274545.5:c.1230C>A	p.Ala410=	p.A410=	ENST00000274545		410	gcC/gcA	0			1			A	A	uc003lyu.2	protein_coding	YES	CCDS4356.1			1230/1362									ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	c.(1228-1230)GCC>GCA			hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF335,Superfamily_domains:SSF90112,Prints_domain:PR01079	gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)			ENSP00000274545		9-Sep									COSM3410083	9-Sep	.		ENST00000274545	Transcript			gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	ENSG00000145863	g.chr5:161128647C>A	4080			LOW								--	--	1				TCGA Ovarian(5;0.080)																														GABRA6_uc003lyv.2_Silent_p.A181A	1	1			p.A410A	NM_000811	NP_000802			1	GBRA6_HUMAN	GABRA6	HGNC	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Q71UU0_HUMAN		9	1568	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	UPI000013DA14	410			Cytoplasmic (Probable).		SNV	GABRA6,synonymous_variant,p.=,ENST00000523217,NM_000811.2;GABRA6,synonymous_variant,p.=,ENST00000274545,;GABRA6,non_coding_transcript_exon_variant,,ENST00000521520,;	uc003lyu.2	c.1230C>A	1663/2128	2	2			c.1230C>A						5	SNP	c.(1228-1230)GCC>GCA	41	41			ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Broad	gamma-aminobutyric acid A receptor, alpha 6		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	161128647		0.468	ENSG00000145863	6059	g.chr5:161128647C>A	gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity							32.285679	KEEP	9	7	0.4375	29	25	9	7	0.4375	36.795865	29	25	0.227273	1	0	0	0	0	0	0	1	0	--	--	TCGA Ovarian(5;0.080)	0	A			GABRA6_uc003lyv.2_Silent_p.A181A	187	GBM-26-6173-TP	p.A410A	C	TCTCGCCAGCCTTTGGAGGCA	NM_000811	NP_000802	161128647	Q16445	GBRA6_HUMAN	0	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1568	+	A	A	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Silent	410			Cytoplasmic (Probable).			
GABRA6	0	broad.mit.edu	GRCh37	5	161116169	161116169	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-27-1835-01	TCGA-27-1835-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274545.5:c.440C>A	p.Thr147Asn	p.T147N	ENST00000274545		147	aCc/aAc	0			1			A	T/N	uc003lyu.2	protein_coding	YES	CCDS4356.1			440/1362									ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	c.(439-441)ACC>AAC			hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF335,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Superfamily_domains:0038932	gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)			ENSP00000274545		9-Apr									COSM2157264	9-Apr	.		ENST00000274545	Transcript			gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	ENSG00000145863	g.chr5:161116169C>A	4080			MODERATE		1.495	low	getma.org/?cm=msa&ty=f&p=GBRA6_HUMAN&rb=32&re=240&var=T147N	getma.org/pdb.php?prot=GBRA6_HUMAN&from=32&to=240&var=T147N	getma.org/?cm=var&var=hg19,5,161116169,C,A&fts=all	T147N	--	--	1				TCGA Ovarian(5;0.080)																														GABRA6_uc003lyv.2_5'Flank	1	1		probably_damaging(0.999)	p.T147N	NM_000811	NP_000802		deleterious(0)	1	GBRA6_HUMAN	GABRA6	HGNC	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Q71UU0_HUMAN		4	778	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	UPI000013DA14	147			Extracellular (Probable).		SNV	GABRA6,missense_variant,p.Thr137Asn,ENST00000523217,NM_000811.2;GABRA6,missense_variant,p.Thr147Asn,ENST00000274545,;GABRA6,missense_variant,p.Thr87Asn,ENST00000520000,;GABRA6,missense_variant,p.Thr42Asn,ENST00000523691,;GABRA6,missense_variant,p.Thr94Asn,ENST00000517823,;RP11-348M17.2,intron_variant,,ENST00000521984,;GABRA6,downstream_gene_variant,,ENST00000522269,;GABRA6,downstream_gene_variant,,ENST00000518888,;GABRA6,non_coding_transcript_exon_variant,,ENST00000524220,;GABRA6,upstream_gene_variant,,ENST00000521520,;	uc003lyu.2	c.440C>A	873/2128	1	1			c.440C>A						5	SNP	c.(439-441)ACC>AAC	59	59			ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Broad	gamma-aminobutyric acid A receptor, alpha 6		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	161116169		0.373	ENSG00000145863	6059	g.chr5:161116169C>A	gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity							100.133173	KEEP	18	17	0.485714286	33	33	18	17	0.485714286	102.154027	33	33	0.346939	1	0	0	0	0	1	0	0	0	--	--	TCGA Ovarian(5;0.080)	0	A			GABRA6_uc003lyv.2_5'Flank	194	GBM-27-1835-TP	p.T147N	C	ATTTTATACACCATGAGGTGA	NM_000811	NP_000802	161116169	Q16445	GBRA6_HUMAN	0	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	778	+	A	A	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Missense_Mutation	147			Extracellular (Probable).			
GABRA6	0	broad.mit.edu	GRCh37	5	161117359	161117359	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01	TCGA-27-2526-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274545.5:c.826G>A	p.Gly276Arg	p.G276R	ENST00000274545		276	Ggg/Agg	0			1			A	G/R	uc003lyu.2	protein_coding	YES	CCDS4356.1			826/1362									ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	c.(826-828)GGG>AGG			Transmembrane_helices:TMhelix,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF335,Pfam_domain:PF02932,TIGRFAM_domain:TIGR00860,Gene3D:1.20.58.390,Superfamily_domains:SSF90112,Prints_domain:PR00253	gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)			ENSP00000274545		9-Jul									COSM3410081	9-Jul	.		ENST00000274545	Transcript			gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	ENSG00000145863	g.chr5:161117359G>A	4080			MODERATE		4.105	high	getma.org/?cm=msa&ty=f&p=GBRA6_HUMAN&rb=247&re=387&var=G276R	getma.org/pdb.php?prot=GBRA6_HUMAN&from=247&to=387&var=G276R	getma.org/?cm=var&var=hg19,5,161117359,G,A&fts=all	G276R	--	--	1				TCGA Ovarian(5;0.080)																														GABRA6_uc003lyv.2_Missense_Mutation_p.G47R	1	1		probably_damaging(1)	p.G276R	NM_000811	NP_000802		deleterious(0)	1	GBRA6_HUMAN	GABRA6	HGNC	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Q71UU0_HUMAN		7	1164	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	UPI000013DA14	276			Helical; (Probable).		SNV	GABRA6,missense_variant,p.Gly266Arg,ENST00000523217,NM_000811.2;GABRA6,missense_variant,p.Gly276Arg,ENST00000274545,;GABRA6,downstream_gene_variant,,ENST00000520000,;GABRA6,downstream_gene_variant,,ENST00000523691,;GABRA6,downstream_gene_variant,,ENST00000517823,;RP11-348M17.2,upstream_gene_variant,,ENST00000521984,;GABRA6,downstream_gene_variant,,ENST00000522269,;GABRA6,downstream_gene_variant,,ENST00000518888,;GABRA6,splice_region_variant,,ENST00000521520,;GABRA6,downstream_gene_variant,,ENST00000524220,;	uc003lyu.2	c.826G>A	1259/2128	1	1			c.826G>A						5	SNP	c.(826-828)GGG>AGG	58	58			ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Broad	gamma-aminobutyric acid A receptor, alpha 6		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	161117359		0.378	ENSG00000145863	6059	g.chr5:161117359G>A	gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity							308.425272	KEEP	60	50	-1	66	62	60	50	-1	308.884503	66	62	0.449761	1	0	0	0	0	1	0	0	0	--	--	TCGA Ovarian(5;0.080)	0	A			GABRA6_uc003lyv.2_Missense_Mutation_p.G47R	203	GBM-27-2526-TP	p.G276R	G	AACTGTTTTTGGTATATGTCA	NM_000811	NP_000802	161117359	Q16445	GBRA6_HUMAN	0	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	1164	+	A	A	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Missense_Mutation	276			Helical; (Probable).			
GABRA6	0	broad.mit.edu	GRCh37	5	161113339	161113339	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4931-01	TCGA-76-4931-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274545.5:c.142C>T	p.Arg48Trp	p.R48W	ENST00000274545		48	Cgg/Tgg	0			1			T	R/W	uc003lyu.2	protein_coding	YES	CCDS4356.1			142/1362									ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	c.(142-144)CGG>TGG			hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF335,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Superfamily_domains:0038932	gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)			ENSP00000274545		9-Feb									COSM3247827	9-Feb	.		ENST00000274545	Transcript			gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	ENSG00000145863	g.chr5:161113339C>T	4080			MODERATE		3.875	high	getma.org/?cm=msa&ty=f&p=GBRA6_HUMAN&rb=32&re=240&var=R48W	getma.org/pdb.php?prot=GBRA6_HUMAN&from=32&to=240&var=R48W	getma.org/?cm=var&var=hg19,5,161113339,C,T&fts=all	R48W	--	--	1				TCGA Ovarian(5;0.080)																															1	1		probably_damaging(0.999)	p.R48W	NM_000811	NP_000802		deleterious(0)	1	GBRA6_HUMAN	GABRA6	HGNC	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Q71UU0_HUMAN		2	480	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	UPI000013DA14	48			Extracellular (Probable).		SNV	GABRA6,missense_variant,p.Arg48Trp,ENST00000523217,NM_000811.2;GABRA6,missense_variant,p.Arg48Trp,ENST00000274545,;GABRA6,upstream_gene_variant,,ENST00000520000,;GABRA6,upstream_gene_variant,,ENST00000523691,;GABRA6,upstream_gene_variant,,ENST00000517823,;RP11-348M17.2,downstream_gene_variant,,ENST00000521984,;GABRA6,non_coding_transcript_exon_variant,,ENST00000522269,;GABRA6,downstream_gene_variant,,ENST00000518888,;GABRA6,non_coding_transcript_exon_variant,,ENST00000524220,;GABRA6,upstream_gene_variant,,ENST00000521520,;	uc003lyu.2	c.142C>T	575/2128	2	2			c.142C>T						5	SNP	c.(142-144)CGG>TGG	44	44			ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Broad	gamma-aminobutyric acid A receptor, alpha 6		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	161113339		0.483	ENSG00000145863	6059	g.chr5:161113339C>T	gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity							159.656886	KEEP	19	50	-1	46	50	19	50	-1	160.649155	46	50	0.407407	1	0	0	0	0	1	0	0	0	--	--	TCGA Ovarian(5;0.080)	0	T				270	GBM-76-4931-TP	p.R48W	C	CAATCGGCTGCGGCCGGGATT	NM_000811	NP_000802	161113339	Q16445	GBRA6_HUMAN	0	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	480	+	T	T	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Missense_Mutation	48			Extracellular (Probable).			
GABRA6	2559		GRCh37	5	161128666	161128666	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000274545.5:c.1249A>G	p.Ile417Val	p.I417V	ENST00000274545		417	Ata/Gta	0																																																																																																																																																																																																																																												
GABRA6	2559		GRCh37	5	161119060	161119060	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000274545.5:c.940G>A	p.Val314Ile	p.V314I	ENST00000274545		314	Gtc/Atc	0																																																																																																																																																																																																																																												
GABRB1	2560	broad.mit.edu	GRCh37	4	47405592	47405592	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-2559-01	TCGA-06-2559-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295454.3:c.699G>T	p.Leu233=	p.L233=	ENST00000295454	NM_000812.3	233	ctG/ctT	0			1			T	L	uc003gxh.2	protein_coding	YES	CCDS3474.1			699/1425									ovary(2)	2	c.(697-699)CTG>CTT			Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF198,TIGRFAM_domain:TIGR00860	gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)			ENSP00000295454		9-Jul									COSM3409324	9-Jul	.		ENST00000295454	Transcript			synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	ENSG00000163288	g.chr4:47405592G>T	4081			LOW								--	--	1																																		GABRB1_uc011bze.1_Silent_p.L163L	1	1			p.L233L	NM_000812	NP_000803			1	GBRB1_HUMAN	GABRB1	HGNC	P18505	GBRB1_HUMAN			D6REM0_HUMAN		7	1073	+			UPI000012AFAC	233			Extracellular (Probable).		SNV	GABRB1,synonymous_variant,p.=,ENST00000295454,NM_000812.3;GABRB1,synonymous_variant,p.=,ENST00000538619,;GABRB1,downstream_gene_variant,,ENST00000510909,;	uc003gxh.2	c.699G>T	991/2143	2	2			c.699G>T						4	SNP	c.(697-699)CTG>CTT	42	42			ovary(2)	2	Broad	gamma-aminobutyric acid (GABA) A receptor, beta		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	47405592		0.398	ENSG00000163288	6060	g.chr4:47405592G>T	synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity							-36.301058	KEEP	2	4	0.333333333	96	109	2	4	0.333333333	9.699653	96	109	0.026882	1	0	0	0	0	0	0	1	0	--	--		0	T			GABRB1_uc011bze.1_Silent_p.L163L	83	GBM-06-2559-TP	p.L233L	G	ATCCACGACTGTCACTAAGTT	NM_000812	NP_000803	47405592	P18505	GBRB1_HUMAN	0			7	1073	+	T	T			Silent	233			Extracellular (Probable).			
GABRB2	2561	broad.mit.edu	GRCh37	5	160721153	160721153	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274547.2:c.1474C>T	p.Arg492Cys	p.R492C	ENST00000274547	NM_000813.2	492	Cgc/Tgc	0			1			A	R/C	uc003lys.1	protein_coding	YES	CCDS4355.1			1474/1539										0	c.(1474-1476)CGC>TGC			hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF198,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Gene3D:1.20.58.390,Superfamily_domains:SSF90112,Prints_domain:PR00253,Prints_domain:PR01160	gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)			ENSP00000274547		11-Nov									COSM357628,COSM357627	11-Nov	.		ENST00000274547	Transcript			gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	ENSG00000145864	g.chr5:160721153G>A	4082			MODERATE		2.59	medium	getma.org/?cm=msa&ty=f&p=GBRB2_HUMAN&rb=249&re=507&var=R492C	NA	getma.org/?cm=var&var=hg19,5,160721153,G,A&fts=all	R492C	--	--	1																																		GABRB2_uc011deh.1_Missense_Mutation_p.R293C|GABRB2_uc003lyr.1_Missense_Mutation_p.R454C|GABRB2_uc003lyt.1_Missense_Mutation_p.R454C|GABRB2_uc010jiu.1_Missense_Mutation_p.R391C	1,1	1		probably_damaging(1)	p.R492C	NM_021911	NP_068711		deleterious(0)	1,1	GBRB2_HUMAN	GABRB2	HGNC	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		D1M715_HUMAN		11	1692	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	UPI000002AA29	492			Helical; (Probable).		SNV	GABRB2,missense_variant,p.Arg492Cys,ENST00000274547,NM_000813.2,NM_021911.2;GABRB2,missense_variant,p.Arg492Cys,ENST00000393959,;GABRB2,missense_variant,p.Arg454Cys,ENST00000520240,;GABRB2,missense_variant,p.Arg454Cys,ENST00000353437,;GABRB2,missense_variant,p.Arg391Cys,ENST00000517901,;GABRB2,missense_variant,p.Arg294Cys,ENST00000517547,;	uc003lys.1	c.1474C>T	1692/7385	1	1			c.1474C>T						5	SNP	c.(1474-1476)CGC>TGC	61	61				0	Broad	gamma-aminobutyric acid (GABA) A receptor, beta		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	160721153		0.468	ENSG00000145864	6061	g.chr5:160721153G>A	gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity							90.460868	KEEP	16	20	-1	34	53	16	20	-1	94.320035	34	53	0.299065	1	0	0	0	0	1	0	0	0	--	--		0	A			GABRB2_uc011deh.1_Missense_Mutation_p.R293C|GABRB2_uc003lyr.1_Missense_Mutation_p.R454C|GABRB2_uc003lyt.1_Missense_Mutation_p.R454C|GABRB2_uc010jiu.1_Missense_Mutation_p.R391C	8	GBM-02-2486-TP	p.R492C	G	AAGAATATGCGGGACCACCGA	NM_021911	NP_068711	160721153	P47870	GBRB2_HUMAN	0	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1692	-	A	A	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Missense_Mutation	492			Helical; (Probable).			
GABRB2	2561	broad.mit.edu	GRCh37	5	160753407	160753407	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs140795978		TCGA-06-5418-01	TCGA-06-5418-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274547.2:c.1159C>T	p.Arg387Trp	p.R387W	ENST00000274547	NM_000813.2	387	Cgg/Tgg	0	A:0.0002		1			A	R/W	uc003lys.1	protein_coding	YES	CCDS4355.1			1159/1539										0	c.(1159-1161)CGG>TGG			hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF198,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Superfamily_domains:SSF90112	gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)		A:0.0002	ENSP00000274547		11-Oct	6.59E-05	0.000192				7.50E-05		6.06E-05	rs140795978,COSM449249	11-Oct	.		ENST00000274547	Transcript			gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	ENSG00000145864	g.chr5:160753407G>A	4082			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=GBRB2_HUMAN&rb=249&re=507&var=R387W	NA	getma.org/?cm=var&var=hg19,5,160753407,G,A&fts=all	R387W	--	--	1																																		GABRB2_uc011deh.1_Intron|GABRB2_uc003lyr.1_Intron|GABRB2_uc003lyt.1_Intron|GABRB2_uc010jiu.1_Intron	0,1	1		benign(0.206)	p.R387W	NM_021911	NP_068711		deleterious(0.02)	0,1	GBRB2_HUMAN	GABRB2	HGNC	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		D1M715_HUMAN		10	1377	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	UPI000002AA29	387			Cytoplasmic (Probable).		SNV	GABRB2,missense_variant,p.Arg387Trp,ENST00000274547,NM_000813.2,NM_021911.2;GABRB2,missense_variant,p.Arg387Trp,ENST00000393959,;GABRB2,intron_variant,,ENST00000520240,;GABRB2,intron_variant,,ENST00000353437,;GABRB2,intron_variant,,ENST00000517901,;GABRB2,intron_variant,,ENST00000517547,;	uc003lys.1	c.1159C>T	1377/7385	2	2			c.1159C>T						5	SNP	c.(1159-1161)CGG>TGG	32	32				0	Broad	gamma-aminobutyric acid (GABA) A receptor, beta		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	160753407		0.159	ENSG00000145864	6061	g.chr5:160753407G>A	gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity							181.524615	KEEP	38	39	-1	64	75	38	39	-1	184.269049	64	75	0.367232	1	0	0	0	0	1	0	0	0	--	--		0	A			GABRB2_uc011deh.1_Intron|GABRB2_uc003lyr.1_Intron|GABRB2_uc003lyt.1_Intron|GABRB2_uc010jiu.1_Intron	100	GBM-06-5418-TP	p.R387W	G	ttggtagtccgtctagttggg	NM_021911	NP_068711	160753407	P47870	GBRB2_HUMAN	0	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		10	1377	-	A	A	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Missense_Mutation	387			Cytoplasmic (Probable).			
GABRB2	0	broad.mit.edu	GRCh37	5	160721276	160721276	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-12-5301-01	TCGA-12-5301-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274547.2:c.1351T>C	p.Phe451Leu	p.F451L	ENST00000274547	NM_000813.2	451	Ttt/Ctt	0			1			G	F/L	uc003lys.1	protein_coding	YES	CCDS4355.1			1351/1539										0	c.(1351-1353)TTT>CTT			hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF198,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Superfamily_domains:SSF90112	gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)			ENSP00000274547		11-Nov									COSM3410075,COSM3410074	11-Nov	.		ENST00000274547	Transcript			gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	ENSG00000145864	g.chr5:160721276A>G	4082			MODERATE		0.85	low	getma.org/?cm=msa&ty=f&p=GBRB2_HUMAN&rb=249&re=507&var=F451L	NA	getma.org/?cm=var&var=hg19,5,160721276,A,G&fts=all	F451L	--	--	1																																		GABRB2_uc011deh.1_Missense_Mutation_p.F252L|GABRB2_uc003lyr.1_Missense_Mutation_p.F413L|GABRB2_uc003lyt.1_Missense_Mutation_p.F413L|GABRB2_uc010jiu.1_Missense_Mutation_p.F350L	1,1	1		benign(0.002)	p.F451L	NM_021911	NP_068711		tolerated(0.37)	1,1	GBRB2_HUMAN	GABRB2	HGNC	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		D1M715_HUMAN		11	1569	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	UPI000002AA29	451			Cytoplasmic (Probable).		SNV	GABRB2,missense_variant,p.Phe451Leu,ENST00000274547,NM_000813.2,NM_021911.2;GABRB2,missense_variant,p.Phe451Leu,ENST00000393959,;GABRB2,missense_variant,p.Phe413Leu,ENST00000520240,;GABRB2,missense_variant,p.Phe413Leu,ENST00000353437,;GABRB2,missense_variant,p.Phe350Leu,ENST00000517901,;GABRB2,missense_variant,p.Phe253Leu,ENST00000517547,;	uc003lys.1	c.1351T>C	1569/7385	3	3			c.1351T>C						5	SNP	c.(1351-1353)TTT>CTT	56	56				0	Broad	gamma-aminobutyric acid (GABA) A receptor, beta		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	160721276		0.527	ENSG00000145864	6061	g.chr5:160721276A>G	gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity							196.569421	KEEP	27	36	-1	55	65	27	36	-1	199.189452	55	65	0.36129	1	0	0	0	0	1	0	0	0	--	--		0	G			GABRB2_uc011deh.1_Missense_Mutation_p.F252L|GABRB2_uc003lyr.1_Missense_Mutation_p.F413L|GABRB2_uc003lyt.1_Missense_Mutation_p.F413L|GABRB2_uc010jiu.1_Missense_Mutation_p.F350L	131	GBM-12-5301-TP	p.F451L	A	TTTCGGCCAAAACTATGCCTG	NM_021911	NP_068711	160721276	P47870	GBRB2_HUMAN	0	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1569	-	G	G	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Missense_Mutation	451			Cytoplasmic (Probable).			
GABRB2	0	broad.mit.edu	GRCh37	5	160761758	160761758	+	splice_donor_variant	Splice_Site	SNP	C	C	T			TCGA-27-2526-01	TCGA-27-2526-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274547.2:c.832+1G>A		p.X278_splice	ENST00000274547	NM_000813.2			0			1			T		uc003lys.1	protein_coding	YES	CCDS4355.1			832/1539										0	c.e8+1				gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)			ENSP00000274547											COSM3410077,COSM3410076		.		ENST00000274547	Transcript			gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	ENSG00000145864	g.chr5:160761758C>T	4082			HIGH	10-Aug							--	--	1																																		GABRB2_uc011deh.1_Splice_Site_p.G117_splice|GABRB2_uc003lyr.1_Splice_Site_p.G278_splice|GABRB2_uc003lyt.1_Splice_Site_p.G278_splice|GABRB2_uc010jiu.1_Splice_Site_p.G215_splice	1,1	1			p.G278_splice	NM_021911	NP_068711			1,1	GBRB2_HUMAN	GABRB2	HGNC	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		D1M715_HUMAN		8	1050	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	UPI000002AA29						SNV	GABRB2,splice_donor_variant,,ENST00000274547,NM_000813.2,NM_021911.2;GABRB2,splice_donor_variant,,ENST00000393959,;GABRB2,splice_donor_variant,,ENST00000520240,;GABRB2,splice_donor_variant,,ENST00000353437,;GABRB2,splice_donor_variant,,ENST00000517901,;GABRB2,splice_donor_variant,,ENST00000517547,;	uc003lys.1	c.832_splice	-/7385	5	1			c.832_splice						5	SNP	c.e8+1	15	15				0	Broad	gamma-aminobutyric acid (GABA) A receptor, beta		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	160761758		0.443	ENSG00000145864	6061	g.chr5:160761758C>T	gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity							192.182898	KEEP	27	46	-1	29	34	27	46	-1	192.231136	29	34	0.521008	1	0	0	0	0	0	0	0	1	--	--		0	T			GABRB2_uc011deh.1_Splice_Site_p.G117_splice|GABRB2_uc003lyr.1_Splice_Site_p.G278_splice|GABRB2_uc003lyt.1_Splice_Site_p.G278_splice|GABRB2_uc010jiu.1_Splice_Site_p.G215_splice	203	GBM-27-2526-TP	p.G278_splice	C	AAATGGCCTACCTAATGCCAC	NM_021911	NP_068711	160761758	P47870	GBRB2_HUMAN	0	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1050	-	T	T	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Splice_Site							
GABRB2	0	broad.mit.edu	GRCh37	5	160721114	160721114	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274547.2:c.1513G>A	p.Val505Ile	p.V505I	ENST00000274547	NM_000813.2	505	Gtc/Atc	0			1			T	V/I	uc003lys.1	protein_coding	YES	CCDS4355.1			1513/1539										0	c.(1513-1515)GTC>ATC			Transmembrane_helices:TMhelix,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF198,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Gene3D:1.20.58.390,Superfamily_domains:SSF90112,Prints_domain:PR00253	gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)			ENSP00000274547		11-Nov									COSM3410071,COSM3410070	11-Nov	.		ENST00000274547	Transcript			gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	ENSG00000145864	g.chr5:160721114C>T	4082			MODERATE		0.435	neutral	getma.org/?cm=msa&ty=f&p=GBRB2_HUMAN&rb=249&re=507&var=V505I	NA	getma.org/?cm=var&var=hg19,5,160721114,C,T&fts=all	V505I	--	--	1																																		GABRB2_uc011deh.1_Missense_Mutation_p.V306I|GABRB2_uc003lyr.1_Missense_Mutation_p.V467I|GABRB2_uc003lyt.1_Missense_Mutation_p.V467I|GABRB2_uc010jiu.1_Missense_Mutation_p.V404I	1,1	1		benign(0.044)	p.V505I	NM_021911	NP_068711		tolerated(0.58)	1,1	GBRB2_HUMAN	GABRB2	HGNC	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		D1M715_HUMAN		11	1731	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	UPI000002AA29	505			Helical; (Probable).		SNV	GABRB2,missense_variant,p.Val505Ile,ENST00000274547,NM_000813.2,NM_021911.2;GABRB2,missense_variant,p.Val505Ile,ENST00000393959,;GABRB2,missense_variant,p.Val467Ile,ENST00000520240,;GABRB2,missense_variant,p.Val467Ile,ENST00000353437,;GABRB2,missense_variant,p.Val404Ile,ENST00000517901,;GABRB2,missense_variant,p.Val307Ile,ENST00000517547,;	uc003lys.1	c.1513G>A	1731/7385	2	2			c.1513G>A						5	SNP	c.(1513-1515)GTC>ATC	20	20				0	Broad	gamma-aminobutyric acid (GABA) A receptor, beta		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	160721114		0.453	ENSG00000145864	6061	g.chr5:160721114C>T	gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity							36.497965	KEEP	6	10	-1	15	30	6	10	-1	39.39067	15	30	0.263158	1	0	0	0	0	1	0	0	0	--	--		0	T			GABRB2_uc011deh.1_Missense_Mutation_p.V306I|GABRB2_uc003lyr.1_Missense_Mutation_p.V467I|GABRB2_uc003lyt.1_Missense_Mutation_p.V467I|GABRB2_uc010jiu.1_Missense_Mutation_p.V404I	230	GBM-32-1979-TP	p.V505I	C	AGCCAATAGACGATGTTGAAG	NM_021911	NP_068711	160721114	P47870	GBRB2_HUMAN	0	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1731	-	T	T	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Missense_Mutation	505			Helical; (Probable).			
GABRB3	2562	broad.mit.edu	GRCh37	15	26792999	26792999	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0650-01	TCGA-06-0650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311550.5:c.1363G>A	p.Val455Met	p.V455M	ENST00000311550	NM_000814.5	455	Gtg/Atg	0			1			T	V/M	uc001zaz.2	protein_coding	YES	CCDS10019.1			1363/1422									upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5	c.(1363-1365)GTG>ATG			Transmembrane_helices:TMhelix,hmmpanther:PTHR18945:SF221,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Gene3D:1.20.58.390,Superfamily_domains:SSF90112,Prints_domain:PR00253	gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)			ENSP00000308725		9-Sep									COSM3401641,COSM3401642,COSM3401643	9-Sep	.		ENST00000311550	Transcript	1		synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	ENSG00000166206	g.chr15:26792999C>T	4083			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=GBRB3_HUMAN&rb=250&re=468&var=V455M	NA	getma.org/?cm=var&var=hg19,15,26792999,C,T&fts=all	V455M	--	--	1																																		GABRB3_uc010uae.1_Missense_Mutation_p.V370M|GABRB3_uc001zba.2_Missense_Mutation_p.V455M|GABRB3_uc001zbb.2_Missense_Mutation_p.V511M	1,1,1	1		possibly_damaging(0.884)	p.V455M	NM_000814	NP_000805		tolerated(0.09)	1,1,1	GBRB3_HUMAN	GABRB3	HGNC	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	G3V5B4_HUMAN		9	1505	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	UPI000012AFB0	455			Helical; (Probable).		SNV	GABRB3,missense_variant,p.Val511Met,ENST00000541819,;GABRB3,missense_variant,p.Val455Met,ENST00000311550,NM_000814.5,NM_001278631.1;GABRB3,missense_variant,p.Val455Met,ENST00000299267,NM_021912.4;GABRB3,missense_variant,p.Val384Met,ENST00000400188,NM_001191321.2;GABRB3,missense_variant,p.Val370Met,ENST00000545868,NM_001191320.1;GABRB3,3_prime_UTR_variant,,ENST00000555632,;	uc001zaz.2	c.1363G>A	1475/5781	1	1			c.1363G>A						15	SNP	c.(1363-1365)GTG>ATG	7	7			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5	Broad	gamma-aminobutyric acid (GABA) A receptor, beta		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	26792999		0.398	ENSG00000166206	6062	g.chr15:26792999C>T	synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity							4.208302	KEEP	8	5	-1	54	60	8	5	-1	21.939841	54	60	0.087379	1	0	0	0	0	1	0	0	0	--	--		0	T			GABRB3_uc010uae.1_Missense_Mutation_p.V370M|GABRB3_uc001zba.2_Missense_Mutation_p.V455M|GABRB3_uc001zbb.2_Missense_Mutation_p.V511M	63	GBM-06-0650-TP	p.V455M	C	AATGGAAACACGATCCTGGAC	NM_000814	NP_000805	26792999	P28472	GBRB3_HUMAN	0		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	9	1505	-	T	T		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	Missense_Mutation	455			Helical; (Probable).			
GABRB3	0	broad.mit.edu	GRCh37	15	26825568	26825568	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2631-01	TCGA-19-2631-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311550.5:c.580C>T	p.Arg194Ter	p.R194*	ENST00000311550	NM_000814.5	194	Cga/Tga	0			1			A	R/*	uc001zaz.2	protein_coding	YES	CCDS10019.1			580/1422									upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5	c.(580-582)CGA>TGA			hmmpanther:PTHR18945:SF221,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Gene3D:2.70.170.10,Superfamily_domains:0038932	gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)			ENSP00000308725		9-Jun									COSM3401647,COSM3401648,COSM3401649	9-Jun	.		ENST00000311550	Transcript	1		synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	ENSG00000166206	g.chr15:26825568G>A	4083			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,15,26825568,G,A&fts=all	R194*	--	--	1																																		GABRB3_uc010uae.1_Nonsense_Mutation_p.R109*|GABRB3_uc001zba.2_Nonsense_Mutation_p.R194*|GABRB3_uc001zbb.2_Nonsense_Mutation_p.R250*	1,1,1	1			p.R194*	NM_000814	NP_000805			1,1,1	GBRB3_HUMAN	GABRB3	HGNC	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	G3V5B4_HUMAN		6	722	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	UPI000012AFB0	194			Extracellular (Probable).		SNV	GABRB3,stop_gained,p.Arg250Ter,ENST00000541819,;GABRB3,stop_gained,p.Arg194Ter,ENST00000311550,NM_000814.5,NM_001278631.1;GABRB3,stop_gained,p.Arg194Ter,ENST00000299267,NM_021912.4;GABRB3,stop_gained,p.Arg123Ter,ENST00000400188,NM_001191321.2;GABRB3,stop_gained,p.Arg109Ter,ENST00000545868,NM_001191320.1;GABRB3,stop_gained,p.Arg109Ter,ENST00000555094,;GABRB3,3_prime_UTR_variant,,ENST00000555632,;GABRB3,3_prime_UTR_variant,,ENST00000554556,;GABRB3,non_coding_transcript_exon_variant,,ENST00000557765,;	uc001zaz.2	c.580C>T	692/5781	5	2			c.580C>T						15	SNP	c.(580-582)CGA>TGA	48	48			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5	Broad	gamma-aminobutyric acid (GABA) A receptor, beta		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	26825568		0.517	ENSG00000166206	6062	g.chr15:26825568G>A	synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity							-37.056617	KEEP	3	3	-1	96	116	3	3	-1	7.049379	96	116	0.022989	1	0	0	0	0	0	1	0	0	--	--		0	A			GABRB3_uc010uae.1_Nonsense_Mutation_p.R109*|GABRB3_uc001zba.2_Nonsense_Mutation_p.R194*|GABRB3_uc001zbb.2_Nonsense_Mutation_p.R250*	167	GBM-19-2631-TP	p.R194*	G	TCCCCGCCTCGCCAGTAAAAC	NM_000814	NP_000805	26825568	P28472	GBRB3_HUMAN	0		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	6	722	-	A	A		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	Nonsense_Mutation	194			Extracellular (Probable).			
GABRB3	0	broad.mit.edu	GRCh37	15	26812728	26812728	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01	TCGA-19-5954-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311550.5:c.835G>A	p.Gly279Arg	p.G279R	ENST00000311550	NM_000814.5	279	Ggg/Agg	0			1			T	G/R	uc001zaz.2	protein_coding	YES	CCDS10019.1			835/1422									upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5	c.(835-837)GGG>AGG			Transmembrane_helices:TMhelix,hmmpanther:PTHR18945:SF221,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Gene3D:1.20.58.390,Superfamily_domains:SSF90112,Prints_domain:PR00253	gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)			ENSP00000308725		9-Jul									COSM459071,COSM1134463,COSM1134464	9-Jul	.		ENST00000311550	Transcript	1		synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	ENSG00000166206	g.chr15:26812728C>T	4083			MODERATE		3.91	high	getma.org/?cm=msa&ty=f&p=GBRB3_HUMAN&rb=250&re=468&var=G279R	getma.org/pdb.php?prot=GBRB3_HUMAN&from=250&to=468&var=G279R	getma.org/?cm=var&var=hg19,15,26812728,C,T&fts=all	G279R	--	--	1																																		GABRB3_uc010uae.1_Missense_Mutation_p.G194R|GABRB3_uc001zba.2_Missense_Mutation_p.G279R|GABRB3_uc001zbb.2_Missense_Mutation_p.G335R	1,1,1	1		probably_damaging(1)	p.G279R	NM_000814	NP_000805		deleterious(0)	1,1,1	GBRB3_HUMAN	GABRB3	HGNC	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	G3V5B4_HUMAN		7	977	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	UPI000012AFB0	279			Helical; (Probable).		SNV	GABRB3,missense_variant,p.Gly335Arg,ENST00000541819,;GABRB3,missense_variant,p.Gly279Arg,ENST00000311550,NM_000814.5,NM_001278631.1;GABRB3,missense_variant,p.Gly279Arg,ENST00000299267,NM_021912.4;GABRB3,missense_variant,p.Gly208Arg,ENST00000400188,NM_001191321.2;GABRB3,missense_variant,p.Gly194Arg,ENST00000545868,NM_001191320.1;GABRB3,splice_region_variant,,ENST00000555632,;GABRB3,splice_region_variant,,ENST00000554556,;GABRB3,splice_region_variant,,ENST00000557765,;	uc001zaz.2	c.835G>A	947/5781	2	2			c.835G>A						15	SNP	c.(835-837)GGG>AGG	44	44			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5	Broad	gamma-aminobutyric acid (GABA) A receptor, beta		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	26812728		0.373	ENSG00000166206	6062	g.chr15:26812728C>T	synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity							83.86911	KEEP	11	17	-1	20	15	11	17	-1	84.056133	20	15	0.438596	1	0	0	0	0	1	0	0	0	--	--		0	T			GABRB3_uc010uae.1_Missense_Mutation_p.G194R|GABRB3_uc001zba.2_Missense_Mutation_p.G279R|GABRB3_uc001zbb.2_Missense_Mutation_p.G335R	174	GBM-19-5954-TP	p.G279R	C	TAGCACATACCGAGGGCAACT	NM_000814	NP_000805	26812728	P28472	GBRB3_HUMAN	0		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	7	977	-	T	T		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	Missense_Mutation	279			Helical; (Probable).			
GABRB3	0	broad.mit.edu	GRCh37	15	26825472	26825472	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01	TCGA-32-4719-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311550.5:c.676G>A	p.Ala226Thr	p.A226T	ENST00000311550	NM_000814.5	226	Gcc/Acc	0			1			T	A/T	uc001zaz.2	protein_coding	YES	CCDS10019.1			676/1422									upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5	c.(676-678)GCC>ACC			hmmpanther:PTHR18945:SF221,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Gene3D:2.70.170.10,Superfamily_domains:0038932	gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)			ENSP00000308725		9-Jun									COSM1252984,COSM1252985,COSM1252986	9-Jun	.		ENST00000311550	Transcript	1		synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	ENSG00000166206	g.chr15:26825472C>T	4083			MODERATE		0.35	neutral	getma.org/?cm=msa&ty=f&p=GBRB3_HUMAN&rb=37&re=243&var=A226T	getma.org/pdb.php?prot=GBRB3_HUMAN&from=37&to=243&var=A226T	getma.org/?cm=var&var=hg19,15,26825472,C,T&fts=all	A226T	--	--	1																																		GABRB3_uc010uae.1_Missense_Mutation_p.A141T|GABRB3_uc001zba.2_Missense_Mutation_p.A226T|GABRB3_uc001zbb.2_Missense_Mutation_p.A282T	1,1,1	1		benign(0.037)	p.A226T	NM_000814	NP_000805		tolerated(0.49)	1,1,1	GBRB3_HUMAN	GABRB3	HGNC	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	G3V5B4_HUMAN		6	818	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	UPI000012AFB0	226			Extracellular (Probable).		SNV	GABRB3,missense_variant,p.Ala282Thr,ENST00000541819,;GABRB3,missense_variant,p.Ala226Thr,ENST00000311550,NM_000814.5,NM_001278631.1;GABRB3,missense_variant,p.Ala226Thr,ENST00000299267,NM_021912.4;GABRB3,missense_variant,p.Ala155Thr,ENST00000400188,NM_001191321.2;GABRB3,missense_variant,p.Ala141Thr,ENST00000545868,NM_001191320.1;GABRB3,downstream_gene_variant,,ENST00000555094,;GABRB3,3_prime_UTR_variant,,ENST00000555632,;GABRB3,3_prime_UTR_variant,,ENST00000554556,;GABRB3,non_coding_transcript_exon_variant,,ENST00000557765,;	uc001zaz.2	c.676G>A	788/5781	1	1			c.676G>A						15	SNP	c.(676-678)GCC>ACC	14	14			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5	Broad	gamma-aminobutyric acid (GABA) A receptor, beta		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	26825472		0.572	ENSG00000166206	6062	g.chr15:26825472C>T	synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity							82.086449	KEEP	20	17	-1	39	37	20	17	-1	84.894263	39	37	0.319588	1	0	0	0	0	1	0	0	0	--	--		0	T			GABRB3_uc010uae.1_Missense_Mutation_p.A141T|GABRB3_uc001zba.2_Missense_Mutation_p.A226T|GABRB3_uc001zbb.2_Missense_Mutation_p.A282T	248	GBM-32-4719-TP	p.A226T	C	TCACCTGTGGCGAAGACAACA	NM_000814	NP_000805	26825472	P28472	GBRB3_HUMAN	0		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	6	818	-	T	T		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	Missense_Mutation	226			Extracellular (Probable).			
GABRD	0	broad.mit.edu	GRCh37	1	1961508	1961508	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5954-01	TCGA-19-5954-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378585.4:c.1146C>T	p.Arg382=	p.R382=	ENST00000378585	NM_000815.4	382	cgC/cgT	0	T:0.0002		1			T	R	uc001aip.2	protein_coding	YES	CCDS36.1			1146/1359									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(1144-1146)CGC>CGT			Pfam_domain:PF02932,Prints_domain:PR01722,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF34,Superfamily_domains:SSF90112	gamma-aminobutyric acid (GABA) A receptor, delta			T:0	ENSP00000367848		9-Sep	8.26E-05		8.74E-05	0.000235		9.55E-05	0.0012		rs374718450,COSM2156763	9-Sep	.		ENST00000378585	Transcript	1			cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	ENSG00000187730	g.chr1:1961508C>T	4084			LOW								--	--	1																																			0,1	1			p.R382R	NM_000815	NP_000806			0,1	GBRD_HUMAN	GABRD	HGNC	O14764	GBRD_HUMAN		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)			9	1241	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	UPI0000070D0A	382			Cytoplasmic (Probable).		SNV	GABRD,synonymous_variant,p.=,ENST00000378585,NM_000815.4;	uc001aip.2	c.1146C>T	1229/1913	2	2			c.1146C>T						1	SNP	c.(1144-1146)CGC>CGT	30	30			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	gamma-aminobutyric acid (GABA) A receptor, delta			1961508		0.692	ENSG00000187730	6063	g.chr1:1961508C>T		cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity							52.507488	KEEP	9	14	-1	19	16	9	14	-1	53.140688	19	16	0.38	1	0	0	0	0	0	0	1	0	--	--		0	T				174	GBM-19-5954-TP	p.R382R	C	GGCAGCGCCGCGTCCCGGGGA	NM_000815	NP_000806	1961508	O14764	GBRD_HUMAN	0		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	9	1241	+	T	T	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	Silent	382			Cytoplasmic (Probable).			
GABRD	0	broad.mit.edu	GRCh37	1	1957086	1957086	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01	TCGA-28-5219-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378585.4:c.379G>A	p.Val127Met	p.V127M	ENST00000378585	NM_000815.4	127	Gtg/Atg	0		T:0	1	T:0		A	V/M	uc001aip.2	protein_coding	YES	CCDS36.1			379/1359									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(379-381)GTG>ATG			Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,Prints_domain:PR00252,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF34,TIGRFAM_domain:TIGR00860	gamma-aminobutyric acid (GABA) A receptor, delta		T:0.001		ENSP00000367848	T:0	9-Apr	8.24E-06					1.52E-05			rs562124721,COSM1207790	9-Apr	.		ENST00000378585	Transcript	1	T:0.0002		cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	ENSG00000187730	g.chr1:1957086G>A	4084			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=GBRD_HUMAN&rb=43&re=247&var=V127M	getma.org/pdb.php?prot=GBRD_HUMAN&from=43&to=247&var=V127M	getma.org/?cm=var&var=hg19,1,1957086,G,A&fts=all	V127M	--	--	1																																			0,1	1		probably_damaging(1)	p.V127M	NM_000815	NP_000806	T:0	deleterious(0)	0,1	GBRD_HUMAN	GABRD	HGNC	O14764	GBRD_HUMAN		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)			4	474	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	UPI0000070D0A	127			Extracellular (Probable).		SNV	GABRD,missense_variant,p.Val127Met,ENST00000378585,NM_000815.4;	uc001aip.2	c.379G>A	462/1913	2	2			c.379G>A						1	SNP	c.(379-381)GTG>ATG	22	22			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	gamma-aminobutyric acid (GABA) A receptor, delta			1957086		0.637	ENSG00000187730	6063	g.chr1:1957086G>A		cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity							129.485553	KEEP	28	32	-1	55	75	28	32	-1	135.490732	55	75	0.299401	1	0	0	0	0	1	0	0	0	--	--		0	A				225	GBM-28-5219-TP	p.V127M	G	CACCTTCATCGTGAACGCCAA	NM_000815	NP_000806	1957086	O14764	GBRD_HUMAN	0		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	4	474	+	A	A	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	Missense_Mutation	127			Extracellular (Probable).			
GABRE	2564	broad.mit.edu	GRCh37	X	151129839	151129839	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A			TCGA-06-0145-01	TCGA-06-0145-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370328.3:c.564-2A>T		p.X188_splice	ENST00000370328	NM_004961.3	188		0			1			A		uc004ffi.2	protein_coding	YES	CCDS14703.1			564/1521									ovary(2)	2	c.e5-1				gamma-aminobutyric acid (GABA) A receptor,				ENSP00000359353											COSM2149766,COSM2149765		.		ENST00000370328	Transcript			gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	ENSG00000102287	g.chrX:151129839T>A	4085			HIGH	8-Apr							--	--	1																																		GABRE_uc011myd.1_Splice_Site|GABRE_uc011mye.1_Intron|MIR224_hsa-mir-224|MI0000301_5'Flank|MIR452_hsa-mir-452|MI0001733_5'Flank	1,1	1			p.R188_splice	NM_004961	NP_004952			1,1	GBRE_HUMAN	GABRE	HGNC	P78334	GBRE_HUMAN					5	618	-	Acute lymphoblastic leukemia(192;6.56e-05)		UPI00000307E6						SNV	GABRE,splice_acceptor_variant,,ENST00000370325,;GABRE,splice_acceptor_variant,,ENST00000370328,NM_004961.3;GABRE,intron_variant,,ENST00000393914,;AF274855.1,upstream_gene_variant,,ENST00000582865,;MIR452,upstream_gene_variant,,ENST00000385020,;MIR224,upstream_gene_variant,,ENST00000384889,;GABRE,upstream_gene_variant,,ENST00000483564,;GABRE,upstream_gene_variant,,ENST00000462018,;GABRE,splice_acceptor_variant,,ENST00000474932,;GABRE,intron_variant,,ENST00000441219,;GABRE,intron_variant,,ENST00000476016,;GABRE,upstream_gene_variant,,ENST00000486255,;	uc004ffi.2	c.564_splice	-/3152	5	2			c.564_splice						23	SNP	c.e5-1	36	36			ovary(2)	2	Broad	gamma-aminobutyric acid (GABA) A receptor,			151129839		0.493	ENSG00000102287	6064	g.chrX:151129839T>A	gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity							81.629605	KEEP	19	9	-1	24	21	19	9	-1	82.608383	24	21	0.375	1	0	0	0	0	0	0	0	1	--	--		0	A			GABRE_uc011myd.1_Splice_Site|GABRE_uc011mye.1_Intron|MIR224_hsa-mir-224|MI0000301_5'Flank|MIR452_hsa-mir-452|MI0001733_5'Flank	23	GBM-06-0145-TP	p.R188_splice	T	ATGGTCATCCTGGAAGGGAGA	NM_004961	NP_004952	151129839	P78334	GBRE_HUMAN	0			5	618	-	A	A	Acute lymphoblastic leukemia(192;6.56e-05)		Splice_Site							
GABRE	0	broad.mit.edu	GRCh37	X	151124002	151124002	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-16-0846-01	TCGA-16-0846-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370328.3:c.975C>A	p.Thr325=	p.T325=	ENST00000370328	NM_004961.3	325	acC/acA	0			1			T	T	uc004ffi.2	protein_coding	YES	CCDS14703.1			975/1521						uncertain_significance			ovary(2)	2	c.(973-975)ACC>ACA			Gene3D:1.20.58.390,Pfam_domain:PF02932,Prints_domain:PR00253,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF397,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860,Transmembrane_helices:TMhelix	gamma-aminobutyric acid (GABA) A receptor,				ENSP00000359353		9-Aug									rs483352728,COSM3406079,COSM3406078	9-Aug	.		ENST00000370328	Transcript			gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	ENSG00000102287	g.chrX:151124002G>T	4085			LOW								--	--	1																																		GABRE_uc011myd.1_RNA	1,1,1	1			p.T325T	NM_004961	NP_004952			0,1,1	GBRE_HUMAN	GABRE	HGNC	P78334	GBRE_HUMAN					8	1029	-	Acute lymphoblastic leukemia(192;6.56e-05)		UPI00000307E6	325					SNV	GABRE,synonymous_variant,p.=,ENST00000370325,;GABRE,synonymous_variant,p.=,ENST00000370328,NM_004961.3;GABRE,downstream_gene_variant,,ENST00000393914,;AF274855.1,downstream_gene_variant,,ENST00000582865,;MIR452,downstream_gene_variant,,ENST00000385020,;MIR224,downstream_gene_variant,,ENST00000384889,;GABRE,non_coding_transcript_exon_variant,,ENST00000483564,;GABRE,non_coding_transcript_exon_variant,,ENST00000462018,;GABRE,non_coding_transcript_exon_variant,,ENST00000486255,;GABRE,non_coding_transcript_exon_variant,,ENST00000489333,;GABRE,intron_variant,,ENST00000495862,;GABRE,downstream_gene_variant,,ENST00000441219,;GABRE,downstream_gene_variant,,ENST00000476016,;	uc004ffi.2	c.975C>A	1029/3152	1	1			c.975C>A						23	SNP	c.(973-975)ACC>ACA	1	1			ovary(2)	2	Broad	gamma-aminobutyric acid (GABA) A receptor,			151124002		0.493	ENSG00000102287	6064	g.chrX:151124002G>T	gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity							81.959306	KEEP	12	14	0.461538462	8	3	12	14	0.461538462	83.556401	8	3	0.722222	1	0	0	0	0	0	0	1	0	--	--		0	T			GABRE_uc011myd.1_RNA	155	GBM-16-0846-TP	p.T325T	G	TACGAGAAAAGGTGCCCAACG	NM_004961	NP_004952	151124002	P78334	GBRE_HUMAN	0			8	1029	-	T	T	Acute lymphoblastic leukemia(192;6.56e-05)		Silent	325						
GABRE	0	broad.mit.edu	GRCh37	X	151128446	151128446	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-1390-01	TCGA-19-1390-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370328.3:c.649T>C	p.Ser217Pro	p.S217P	ENST00000370328	NM_004961.3	217	Tcc/Ccc	0			1			G	S/P	uc004ffi.2	protein_coding	YES	CCDS14703.1			649/1521									ovary(2)	2	c.(649-651)TCC>CCC			Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF397,Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR00860	gamma-aminobutyric acid (GABA) A receptor,				ENSP00000359353		9-Jun									COSM3406081,COSM3406080	9-Jun	.		ENST00000370328	Transcript			gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	ENSG00000102287	g.chrX:151128446A>G	4085			MODERATE		2.24	medium	getma.org/?cm=msa&ty=f&p=GBRE_HUMAN&rb=71&re=277&var=S217P	getma.org/pdb.php?prot=GBRE_HUMAN&from=71&to=277&var=S217P	getma.org/?cm=var&var=hg19,X,151128446,A,G&fts=all	S217P	--	--	1																																		GABRE_uc011myd.1_RNA|GABRE_uc011mye.1_RNA|MIR224_hsa-mir-224|MI0000301_5'Flank|MIR452_hsa-mir-452|MI0001733_5'Flank	1,1	1		probably_damaging(0.992)	p.S217P	NM_004961	NP_004952		tolerated(0.08)	1,1	GBRE_HUMAN	GABRE	HGNC	P78334	GBRE_HUMAN					6	703	-	Acute lymphoblastic leukemia(192;6.56e-05)		UPI00000307E6	217			Extracellular (Probable).		SNV	GABRE,missense_variant,p.Ser217Pro,ENST00000370325,;GABRE,missense_variant,p.Ser217Pro,ENST00000370328,NM_004961.3;GABRE,missense_variant,p.Ser24Pro,ENST00000393914,;AF274855.1,upstream_gene_variant,,ENST00000582865,;MIR452,upstream_gene_variant,,ENST00000385020,;MIR224,upstream_gene_variant,,ENST00000384889,;GABRE,upstream_gene_variant,,ENST00000483564,;GABRE,upstream_gene_variant,,ENST00000462018,;GABRE,splice_region_variant,,ENST00000441219,;GABRE,splice_region_variant,,ENST00000476016,;GABRE,upstream_gene_variant,,ENST00000486255,;GABRE,upstream_gene_variant,,ENST00000489333,;GABRE,downstream_gene_variant,,ENST00000474932,;GABRE,upstream_gene_variant,,ENST00000495862,;	uc004ffi.2	c.649T>C	703/3152	3	3			c.649T>C						23	SNP	c.(649-651)TCC>CCC	9	9			ovary(2)	2	Broad	gamma-aminobutyric acid (GABA) A receptor,			151128446		0.438	ENSG00000102287	6064	g.chrX:151128446A>G	gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity							129.117441	KEEP	23	22	-1	63	55	23	22	-1	135.736258	63	55	0.277027	1	0	0	0	0	1	0	0	0	--	--		0	G			GABRE_uc011myd.1_RNA|GABRE_uc011mye.1_RNA|MIR224_hsa-mir-224|MI0000301_5'Flank|MIR452_hsa-mir-452|MI0001733_5'Flank	159	GBM-19-1390-TP	p.S217P	A	TCAGGATAGGAAACTGGAAAG	NM_004961	NP_004952	151128446	P78334	GBRE_HUMAN	0			6	703	-	G	G	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	217			Extracellular (Probable).			
GABRG1	0	broad.mit.edu	GRCh37	4	46043099	46043099	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295452.4:c.1304G>A	p.Arg435His	p.R435H	ENST00000295452	NM_173536.3	435	cGc/cAc	0			1			T	R/H	uc003gxb.2	protein_coding	YES	CCDS3470.1			1304/1398									ovary(2)	2	c.(1303-1305)CGC>CAC			Gene3D:1.20.58.390,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF93,Superfamily_domains:SSF90112	gamma-aminobutyric acid A receptor, gamma 1				ENSP00000295452		9-Sep	4.94E-05	9.64E-05		0.000116		6.01E-05			rs757060005,COSM2848365	9-Sep	.		ENST00000295452	Transcript			gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	ENSG00000163285	g.chr4:46043099C>T	4086			MODERATE		0.505	neutral	getma.org/?cm=msa&ty=f&p=GBRG1_HUMAN&rb=388&re=465&var=R435H	NA	getma.org/?cm=var&var=hg19,4,46043099,C,T&fts=all	R435H	--	--	1																																			0,1	1		benign(0.014)	p.R435H	NM_173536	NP_775807		tolerated(0.86)	0,1	GBRG1_HUMAN	GABRG1	HGNC	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)			9	1456	-			UPI0000047AE2	435			Cytoplasmic (Probable).		SNV	GABRG1,missense_variant,p.Arg435His,ENST00000295452,NM_173536.3;	uc003gxb.2	c.1304G>A	1472/6785	1	1			c.1304G>A						4	SNP	c.(1303-1305)CGC>CAC	1	1			ovary(2)	2	Broad	gamma-aminobutyric acid A receptor, gamma 1			46043099		0.403	ENSG00000163285	6065	g.chr4:46043099C>T	gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity							20.621395	KEEP	4	4	-1	7	3	4	4	-1	20.737126	7	3	0.411765	1	0	0	0	0	1	0	0	0	--	--		0	T				230	GBM-32-1979-TP	p.R435H	C	TTTGGCAATGCGTATGTGTAT	NM_173536	NP_775807	46043099	Q8N1C3	GBRG1_HUMAN	0		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	9	1456	-	T	T			Missense_Mutation	435			Cytoplasmic (Probable).			
GABRG2	2566	broad.mit.edu	GRCh37	5	161520964	161520964	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0686-01	TCGA-06-0686-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000414552.2:c.238A>G	p.Lys80Glu	p.K80E	ENST00000414552	NM_198903.2	80	Aaa/Gaa	0			1			G	K/E	uc003lyz.3	protein_coding		CCDS4358.1			238/1404									ovary(4)|skin(1)	5	c.(238-240)AAA>GAA			Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,Prints_domain:PR01620,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF498,TIGRFAM_domain:TIGR00860	gamma-aminobutyric acid A receptor, gamma 2				ENSP00000354651		9-Feb									COSM2151551	9-Feb	.		ENST00000361925	Transcript	1		gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	ENSG00000113327	g.chr5:161520964A>G	4087			MODERATE		2.095	medium	getma.org/?cm=msa&ty=f&p=GBRG2_HUMAN&rb=66&re=272&var=K80E	getma.org/pdb.php?prot=GBRG2_HUMAN&from=66&to=272&var=K80E	getma.org/?cm=var&var=hg19,5,161520964,A,G&fts=all	K80E	--	--	1																																		GABRG2_uc010jjc.2_Missense_Mutation_p.K80E|GABRG2_uc003lyy.3_Missense_Mutation_p.K80E|GABRG2_uc011dej.1_Translation_Start_Site	1			probably_damaging(0.999)	p.K80E	NM_000816	NP_000807		deleterious(0)	1	GBRG2_HUMAN	GABRG2	HGNC	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	E5RGG2_HUMAN,A8MWU7_HUMAN		2	596	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	UPI000013C948	80			Extracellular (Probable).		SNV	GABRG2,missense_variant,p.Lys80Glu,ENST00000356592,NM_198904.2,NM_000816.3;GABRG2,missense_variant,p.Lys80Glu,ENST00000414552,NM_198903.2;GABRG2,missense_variant,p.Lys80Glu,ENST00000361925,;GABRG2,5_prime_UTR_variant,,ENST00000393933,;GABRG2,upstream_gene_variant,,ENST00000522053,;GABRG2,missense_variant,p.Lys80Glu,ENST00000522990,;GABRG2,3_prime_UTR_variant,,ENST00000523372,;	uc003lyz.3	c.238A>G	458/1739	3	3			c.238A>G						5	SNP	c.(238-240)AAA>GAA	9	9			ovary(4)|skin(1)	5	Broad	gamma-aminobutyric acid A receptor, gamma 2			161520964		0.373	ENSG00000113327	6066	g.chr5:161520964A>G	gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding							154.07627	KEEP	30	18	-1	46	33	30	18	-1	155.74883	46	33	0.372881	1	0	0	0	0	1	0	0	0	--	--		0	G			GABRG2_uc010jjc.2_Missense_Mutation_p.K80E|GABRG2_uc003lyy.3_Missense_Mutation_p.K80E|GABRG2_uc011dej.1_Translation_Start_Site	64	GBM-06-0686-TP	p.K80E	A	ATATGACAATAAACTTCGGCC	NM_000816	NP_000807	161520964	P18507	GBRG2_HUMAN	0	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	2	596	+	G	G	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Missense_Mutation	80			Extracellular (Probable).			
GABRG2	0	broad.mit.edu	GRCh37	5	161580200	161580200	+	synonymous_variant	Silent	SNP	C	C	T	rs113085352		TCGA-28-1753-01	TCGA-28-1753-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361925.4:c.1230C>T	p.Asp410=	p.D410=	ENST00000361925		410	gaC/gaT	0		T:0	1	T:0		T	D	uc003lyz.3	protein_coding		CCDS4358.1			1230/1404									ovary(4)|skin(1)	5	c.(1228-1230)GAC>GAT			Prints_domain:PR01620,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF498,Superfamily_domains:SSF90112	gamma-aminobutyric acid A receptor, gamma 2		T:0.001		ENSP00000354651	T:0	9-Sep	9.88E-05		8.67E-05	0.000926	0.000151	3.00E-05			rs113085352,COSM297992	9-Sep	common_variant		ENST00000361925	Transcript	1	T:0.0002	gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	ENSG00000113327	g.chr5:161580200C>T	4087			LOW								--	--	1																																		GABRG2_uc010jjc.2_Silent_p.D458D|GABRG2_uc003lyy.3_Silent_p.D418D|GABRG2_uc011dej.1_Silent_p.D315D	0,1				p.D410D	NM_000816	NP_000807	T:0		0,1	GBRG2_HUMAN	GABRG2	HGNC	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	E5RGG2_HUMAN,A8MWU7_HUMAN		9	1588	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	UPI000013C948	410			Cytoplasmic (Probable).		SNV	GABRG2,synonymous_variant,p.=,ENST00000356592,NM_198904.2,NM_000816.3;GABRG2,synonymous_variant,p.=,ENST00000414552,NM_198903.2;GABRG2,synonymous_variant,p.=,ENST00000393933,;GABRG2,synonymous_variant,p.=,ENST00000361925,;GABRG2,downstream_gene_variant,,ENST00000522053,;GABRG2,3_prime_UTR_variant,,ENST00000522990,;GABRG2,3_prime_UTR_variant,,ENST00000523372,;	uc003lyz.3	c.1230C>T	1450/1739	2	2			c.1230C>T						5	SNP	c.(1228-1230)GAC>GAT	36	36			ovary(4)|skin(1)	5	Broad	gamma-aminobutyric acid A receptor, gamma 2			161580200		0.463	ENSG00000113327	6066	g.chr5:161580200C>T	gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding							106.459569	KEEP	24	20	-1	51	65	24	20	-1	113.21637	51	65	0.279221	1	0	0	0	0	0	0	1	0	--	--		0	T			GABRG2_uc010jjc.2_Silent_p.D458D|GABRG2_uc003lyy.3_Silent_p.D418D|GABRG2_uc011dej.1_Silent_p.D315D	207	GBM-28-1753-TP	p.D410D	C	AGTGTCTGGACGGCAAGGACT	NM_000816	NP_000807	161580200	P18507	GBRG2_HUMAN	0	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	9	1588	+	T	T	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Silent	410			Cytoplasmic (Probable).			
GABRG2	0	broad.mit.edu	GRCh37	5	161524703	161524703	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-1986-01	TCGA-32-1986-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361925.4:c.387C>A	p.Asn129Lys	p.N129K	ENST00000361925		129	aaC/aaA	0			1			A	N/K	uc003lyz.3	protein_coding		CCDS4358.1			387/1404									ovary(4)|skin(1)	5	c.(385-387)AAC>AAA			Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF498,TIGRFAM_domain:TIGR00860	gamma-aminobutyric acid A receptor, gamma 2				ENSP00000354651		9-Apr									COSM3410087	9-Apr	.		ENST00000361925	Transcript	1		gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	ENSG00000113327	g.chr5:161524703C>A	4087			MODERATE		1.63	low	getma.org/?cm=msa&ty=f&p=GBRG2_HUMAN&rb=66&re=272&var=N129K	getma.org/pdb.php?prot=GBRG2_HUMAN&from=66&to=272&var=N129K	getma.org/?cm=var&var=hg19,5,161524703,C,A&fts=all	N129K	--	--	1																																		GABRG2_uc010jjc.2_Missense_Mutation_p.N129K|GABRG2_uc003lyy.3_Missense_Mutation_p.N129K|GABRG2_uc011dej.1_Missense_Mutation_p.N34K	1			probably_damaging(0.981)	p.N129K	NM_000816	NP_000807		tolerated(0.09)	1	GBRG2_HUMAN	GABRG2	HGNC	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	E5RGG2_HUMAN,A8MWU7_HUMAN		4	745	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	UPI000013C948	129			Extracellular (Probable).		SNV	GABRG2,missense_variant,p.Asn129Lys,ENST00000356592,NM_198904.2,NM_000816.3;GABRG2,missense_variant,p.Asn129Lys,ENST00000414552,NM_198903.2;GABRG2,missense_variant,p.Asn34Lys,ENST00000393933,;GABRG2,missense_variant,p.Asn129Lys,ENST00000361925,;GABRG2,missense_variant,p.Asn34Lys,ENST00000522053,;GABRG2,splice_region_variant,,ENST00000522990,;GABRG2,3_prime_UTR_variant,,ENST00000523372,;	uc003lyz.3	c.387C>A	607/1739	2	2			c.387C>A						5	SNP	c.(385-387)AAC>AAA	17	17			ovary(4)|skin(1)	5	Broad	gamma-aminobutyric acid A receptor, gamma 2			161524703		0.353	ENSG00000113327	6066	g.chr5:161524703C>A	gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding							131.341493	KEEP	23	31	0.574074074	89	88	23	31	0.574074074	144.138061	89	88	0.240385	1	0	0	0	0	1	0	0	0	--	--		0	A			GABRG2_uc010jjc.2_Missense_Mutation_p.N129K|GABRG2_uc003lyy.3_Missense_Mutation_p.N129K|GABRG2_uc011dej.1_Missense_Mutation_p.N34K	233	GBM-32-1986-TP	p.N129K	C	TGAAATTTAACAGCACCATTA	NM_000816	NP_000807	161524703	P18507	GBRG2_HUMAN	0	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	4	745	+	A	A	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Missense_Mutation	129			Extracellular (Probable).			
GABRG2	0	broad.mit.edu	GRCh37	5	161524689	161524689	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01	TCGA-32-4213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361925.4:c.373C>T	p.Arg125Cys	p.R125C	ENST00000361925		125	Cgt/Tgt	0			1			T	R/C	uc003lyz.3	protein_coding		CCDS4358.1			373/1404									ovary(4)|skin(1)	5	c.(373-375)CGT>TGT			Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,Prints_domain:PR00252,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF498,TIGRFAM_domain:TIGR00860	gamma-aminobutyric acid A receptor, gamma 2				ENSP00000354651		9-Apr									COSM1065339	9-Apr	.		ENST00000361925	Transcript	1		gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	ENSG00000113327	g.chr5:161524689C>T	4087			MODERATE		4.005	high	getma.org/?cm=msa&ty=f&p=GBRG2_HUMAN&rb=66&re=272&var=R125C	getma.org/pdb.php?prot=GBRG2_HUMAN&from=66&to=272&var=R125C	getma.org/?cm=var&var=hg19,5,161524689,C,T&fts=all	R125C	--	--	1																																		GABRG2_uc010jjc.2_Missense_Mutation_p.R125C|GABRG2_uc003lyy.3_Missense_Mutation_p.R125C|GABRG2_uc011dej.1_Missense_Mutation_p.R30C	1			probably_damaging(1)	p.R125C	NM_000816	NP_000807		deleterious(0)	1	GBRG2_HUMAN	GABRG2	HGNC	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	E5RGG2_HUMAN,A8MWU7_HUMAN		4	731	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	UPI000013C948	125			Extracellular (Probable).		SNV	GABRG2,missense_variant,p.Arg125Cys,ENST00000356592,NM_198904.2,NM_000816.3;GABRG2,missense_variant,p.Arg125Cys,ENST00000414552,NM_198903.2;GABRG2,missense_variant,p.Arg30Cys,ENST00000393933,;GABRG2,missense_variant,p.Arg125Cys,ENST00000361925,;GABRG2,missense_variant,p.Arg30Cys,ENST00000522053,;GABRG2,3_prime_UTR_variant,,ENST00000523372,;GABRG2,intron_variant,,ENST00000522990,;	uc003lyz.3	c.373C>T	593/1739	2	2			c.373C>T						5	SNP	c.(373-375)CGT>TGT	22	22			ovary(4)|skin(1)	5	Broad	gamma-aminobutyric acid A receptor, gamma 2			161524689		0.328	ENSG00000113327	6066	g.chr5:161524689C>T	gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding							183.042122	KEEP	40	42	-1	75	82	40	42	-1	188.119948	75	82	0.331683	1	0	0	0	0	1	0	0	0	--	--		0	T			GABRG2_uc010jjc.2_Missense_Mutation_p.R125C|GABRG2_uc003lyy.3_Missense_Mutation_p.R125C|GABRG2_uc011dej.1_Missense_Mutation_p.R30C	247	GBM-32-4213-TP	p.R125C	C	GTATGACAGACGTTTGAAATT	NM_000816	NP_000807	161524689	P18507	GBRG2_HUMAN	0	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	4	731	+	T	T	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Missense_Mutation	125			Extracellular (Probable).			
GABRG2	2566		GRCh37	5	161530925	161530925	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000414552.2:c.782A>T	p.Gln261Leu	p.Q261L	ENST00000414552	NM_198903.2	261	cAa/cTa	0																																																																																																																																																																																																																																												
GABRP	2568	broad.mit.edu	GRCh37	5	170222299	170222299	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs145233692		TCGA-02-2486-01	TCGA-02-2486-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000518525.1:c.328C>T	p.Arg110Cys	p.R110C	ENST00000518525		110	Cgc/Tgc	0	T:0		1			T	R/C	uc003mau.2	protein_coding		CCDS4375.1			328/1323									breast(1)	1	c.(328-330)CGC>TGC			hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF470,Pfam_domain:PF02931,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932	gamma-aminobutyric acid (GABA) A receptor, pi			T:0.0001	ENSP00000265294		10-May	4.94E-05				0.000605	1.50E-05	0.0011		rs145233692,COSM3339288	10-May	common_variant		ENST00000265294	Transcript				cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	ENSG00000094755	g.chr5:170222299C>T	4089			MODERATE		2.34	medium	getma.org/?cm=msa&ty=f&p=GBRP_HUMAN&rb=40&re=242&var=R110C	getma.org/pdb.php?prot=GBRP_HUMAN&from=40&to=242&var=R110C	getma.org/?cm=var&var=hg19,5,170222299,C,T&fts=all	R110C	--	--	1																																		GABRP_uc011dev.1_Missense_Mutation_p.R110C	0,1			probably_damaging(0.95)	p.R110C	NM_014211	NP_055026		deleterious(0)	0,1	GBRP_HUMAN	GABRP	HGNC	O00591	GBRP_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		E5RK74_HUMAN,E5RHU0_HUMAN,E5RHF6_HUMAN,E5RGF7_HUMAN,E5RG98_HUMAN		5	526	+	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	UPI000003C534	110			Extracellular (Potential).		SNV	GABRP,missense_variant,p.Arg110Cys,ENST00000518525,;GABRP,missense_variant,p.Arg110Cys,ENST00000265294,NM_014211.2;GABRP,missense_variant,p.Arg110Cys,ENST00000519385,;GABRP,missense_variant,p.Arg110Cys,ENST00000519598,;GABRP,missense_variant,p.Arg110Cys,ENST00000521481,;GABRP,missense_variant,p.Arg110Cys,ENST00000522868,;GABRP,downstream_gene_variant,,ENST00000519196,;GABRP,downstream_gene_variant,,ENST00000521009,;GABRP,downstream_gene_variant,,ENST00000519137,;	uc003mau.2	c.328C>T	526/3310	2	2			c.328C>T						5	SNP	c.(328-330)CGC>TGC	40	40			breast(1)	1	Broad	gamma-aminobutyric acid (GABA) A receptor, pi			170222299		0.562	ENSG00000094755	6068	g.chr5:170222299C>T		cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity							328.318185	KEEP	50	64	-1	85	102	50	64	-1	332.102855	85	102	0.378007	1	0	0	0	0	1	0	0	0	--	--		0	T			GABRP_uc011dev.1_Missense_Mutation_p.R110C	8	GBM-02-2486-TP	p.R110C	C	TCTGGATGCCCGCCTCGTGGA	NM_014211	NP_055026	170222299	O00591	GBRP_HUMAN	0	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		5	526	+	T	T	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Missense_Mutation	110			Extracellular (Potential).			
GABRQ	0	broad.mit.edu	GRCh37	X	151808911	151808911	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0871-01	TCGA-14-0871-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370306.2:c.222G>A	p.Leu74=	p.L74=	ENST00000370306	NM_018558.3	74	ctG/ctA	0			1			A	L	uc004ffp.1	protein_coding	YES	CCDS14707.1			222/1899									ovary(2)|pancreas(1)	3	c.(220-222)CTG>CTA			Superfamily_domains:0038932,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF87	gamma-aminobutyric acid (GABA) receptor, theta				ENSP00000359329		9-Feb									COSM3406086	9-Feb	.		ENST00000370306	Transcript				cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	ENSG00000147402	g.chrX:151808911G>A	14454			LOW								--	--	1																																			1	1			p.L74L	NM_018558	NP_061028			1	GBRT_HUMAN	GABRQ	HGNC	Q9UN88	GBRT_HUMAN					2	242	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000012AFA9	74			Extracellular (Potential).		SNV	GABRQ,synonymous_variant,p.=,ENST00000370306,NM_018558.3;	uc004ffp.1	c.222G>A	242/6174	2	2			c.222G>A						23	SNP	c.(220-222)CTG>CTA	35	35			ovary(2)|pancreas(1)	3	Broad	gamma-aminobutyric acid (GABA) receptor, theta			151808911		0.463	ENSG00000147402	6069	g.chrX:151808911G>A		cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity							-11.998622	KEEP	8	6	-1	122	90	8	6	-1	26.787372	122	90	0.065657	1	0	0	0	0	0	0	1	0	--	--		0	A				141	GBM-14-0871-TP	p.L74L	G	ATGTCCGCCTGAGACCGAATT	NM_018558	NP_061028	151808911	Q9UN88	GBRT_HUMAN	0			2	242	+	A	A	Acute lymphoblastic leukemia(192;6.56e-05)		Silent	74			Extracellular (Potential).			
GABRQ	0	broad.mit.edu	GRCh37	X	151820044	151820044	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-2523-01	TCGA-27-2523-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370306.2:c.957C>T	p.Leu319=	p.L319=	ENST00000370306	NM_018558.3	319	ctC/ctT	0			1			T	L	uc004ffp.1	protein_coding	YES	CCDS14707.1			957/1899									ovary(2)|pancreas(1)	3	c.(955-957)CTC>CTT			Superfamily_domains:SSF90112,Pfam_domain:PF02932,TIGRFAM_domain:TIGR00860,Gene3D:1.20.58.390,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF87	gamma-aminobutyric acid (GABA) receptor, theta				ENSP00000359329		9-Aug									COSM3406087	9-Aug	.		ENST00000370306	Transcript				cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	ENSG00000147402	g.chrX:151820044C>T	14454			LOW								--	--	1																																			1	1			p.L319L	NM_018558	NP_061028			1	GBRT_HUMAN	GABRQ	HGNC	Q9UN88	GBRT_HUMAN					8	977	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000012AFA9	319					SNV	GABRQ,synonymous_variant,p.=,ENST00000370306,NM_018558.3;	uc004ffp.1	c.957C>T	977/6174	2	2			c.957C>T						23	SNP	c.(955-957)CTC>CTT	21	21			ovary(2)|pancreas(1)	3	Broad	gamma-aminobutyric acid (GABA) receptor, theta			151820044		0.448	ENSG00000147402	6069	g.chrX:151820044C>T		cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity							383.664463	KEEP	63	60	-1	3	5	63	60	-1	404.090278	3	5	0.933884	1	0	0	0	0	0	0	1	0	--	--		0	T				201	GBM-27-2523-TP	p.L319L	C	GGGATAAGCTCCCCAACATTT	NM_018558	NP_061028	151820044	Q9UN88	GBRT_HUMAN	0			8	977	+	T	T	Acute lymphoblastic leukemia(192;6.56e-05)		Silent	319						
GADD45A	1647		GRCh37	1	68152267	68152267	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000370986.4:c.381G>T	p.Val127=	p.V127=	ENST00000370986	NM_001924.3	127	gtG/gtT	0																																																																																																																																																																																																																																												
GADD45B	0	broad.mit.edu	GRCh37	19	2477591	2477591	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-12-3649-01	TCGA-12-3649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000215631.4:c.475G>C	p.Glu159Gln	p.E159Q	ENST00000215631	NM_015675.3	159	Gaa/Caa	0			1			C	E/Q	uc002lwb.1	protein_coding	YES	CCDS32868.1			475/483										0	c.(475-477)GAA>CAA			hmmpanther:PTHR10411,hmmpanther:PTHR10411:SF5	growth arrest and DNA-damage-inducible, beta				ENSP00000215631		4-Apr									COSM3404066	4-Apr	.		ENST00000215631	Transcript			activation of MAPKKK activity|apoptosis|cell differentiation|multicellular organismal development|response to stress			ENSG00000099860	g.chr19:2477591G>C	4096			MODERATE		2.265	medium	getma.org/?cm=msa&ty=f&p=GA45B_HUMAN&rb=122&re=160&var=E159Q	getma.org/pdb.php?prot=GA45B_HUMAN&from=122&to=160&var=E159Q	getma.org/?cm=var&var=hg19,19,2477591,G,C&fts=all	E159Q	--	--	1																																			1	1		possibly_damaging(0.552)	p.E159Q	NM_015675	NP_056490		deleterious(0.01)	1	GA45B_HUMAN	GADD45B	HGNC	O75293	GA45B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Q6IX74_HUMAN		4	697	+		Hepatocellular(1079;0.137)	UPI000012AEF0	159					SNV	GADD45B,missense_variant,p.Glu159Gln,ENST00000215631,NM_015675.3;GADD45B,downstream_gene_variant,,ENST00000587345,;GADD45B,downstream_gene_variant,,ENST00000593043,;GADD45B,downstream_gene_variant,,ENST00000587887,;GADD45B,3_prime_UTR_variant,,ENST00000585359,;GADD45B,non_coding_transcript_exon_variant,,ENST00000592937,;GADD45B,downstream_gene_variant,,ENST00000586759,;	uc002lwb.1	c.475G>C	707/1373	3	3			c.475G>C						19	SNP	c.(475-477)GAA>CAA	60	60				0	Broad	growth arrest and DNA-damage-inducible, beta			2477591		0.562	ENSG00000099860	6076	g.chr19:2477591G>C	activation of MAPKKK activity|apoptosis|cell differentiation|multicellular organismal development|response to stress									8.848042	KEEP	3	3	-1	16	19	3	3	-1	14.100478	16	19	0.128205	1	0	0	0	0	1	0	0	0	--	--		0	C				125	GBM-12-3649-TP	p.E159Q	G	CTCTCTTCAGGAACGCTGAGG	NM_015675	NP_056490	2477591	O75293	GA45B_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	697	+	C	C		Hepatocellular(1079;0.137)	Missense_Mutation	159						
GADD45G	0	broad.mit.edu	GRCh37	9	92220750	92220750	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-1991-01	TCGA-32-1991-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252506.6:c.324C>T	p.Gly108=	p.G108=	ENST00000252506	NM_006705.3	108	ggC/ggT	0			1			T	G	uc004aqq.2	protein_coding	YES	CCDS6686.1			324/480										0	c.(322-324)GGC>GGT			hmmpanther:PTHR10411,hmmpanther:PTHR10411:SF4,Low_complexity_(Seg):seg,Superfamily_domains:SSF55315	growth arrest and DNA-damage-inducible, gamma				ENSP00000252506		4-Mar									COSM3413806	4-Mar	.		ENST00000252506	Transcript			activation of MAPKKK activity|apoptosis|cell differentiation|DNA repair|multicellular organismal development		protein binding	ENSG00000130222	g.chr9:92220750C>T	4097			LOW								--	--	1																																		GADD45G_uc004aqr.2_Silent_p.G90G	1	1			p.G108G	NM_006705	NP_006696			1	GA45G_HUMAN	GADD45G	HGNC	O95257	GA45G_HUMAN			Q5VZ88_HUMAN,Q5VZ87_HUMAN,Q5MAI3_HUMAN		3	434	+			UPI000012AEF1	108					SNV	GADD45G,synonymous_variant,p.=,ENST00000252506,NM_006705.3;GADD45G,synonymous_variant,p.=,ENST00000375769,;GADD45G,non_coding_transcript_exon_variant,,ENST00000494726,;	uc004aqq.2	c.324C>T	433/1065	2	2			c.324C>T						9	SNP	c.(322-324)GGC>GGT	26	26				0	Broad	growth arrest and DNA-damage-inducible, gamma			92220750		0.662	ENSG00000130222	6077	g.chr9:92220750C>T	activation of MAPKKK activity|apoptosis|cell differentiation|DNA repair|multicellular organismal development		protein binding	Colon(131;320 2336 18973 23919)			Colon(131;320 2336 18973 23919)			-2.005775	KEEP	2	1	-1	26	27	2	1	-1	6.747386	26	27	0.066667	1	0	0	0	0	0	0	1	0	--	--		0	T			GADD45G_uc004aqr.2_Silent_p.G90G	234	GBM-32-1991-TP	p.G108G	C	TGGGCGCCGGCGAGGAGGCGG	NM_006705	NP_006696	92220750	O95257	GA45G_HUMAN	0			3	434	+	T	T			Silent	108						
GADL1	0	broad.mit.edu	GRCh37	3	30885739	30885739	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-16-1045-01	TCGA-16-1045-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282538.5:c.749A>T	p.Glu250Val	p.E250V	ENST00000282538	NM_207359.2	250	gAg/gTg	0			1			A	E/V	uc003cep.2	protein_coding	YES	CCDS2649.2			749/1566										0	c.(748-750)GAG>GTG			hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF61,Gene3D:3.40.640.10,Pfam_domain:PF00282,Superfamily_domains:SSF53383	glutamate decarboxylase-like 1	Pyridoxal Phosphate(DB00114)			ENSP00000282538		15-Aug									COSM3408583,COSM3408582	15-Aug	.		ENST00000282538	Transcript			carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	ENSG00000144644	g.chr3:30885739T>A	27949			MODERATE		1.755	low	getma.org/?cm=msa&ty=f&p=GADL1_HUMAN&rb=77&re=445&var=E250V	getma.org/pdb.php?prot=GADL1_HUMAN&from=77&to=445&var=E250V	getma.org/?cm=var&var=hg19,3,30885739,T,A&fts=all	E250V	--	--	1																																		GADL1_uc003ceq.1_Missense_Mutation_p.E250V	1,1	1		benign(0.011)	p.E250V	NM_207359	NP_997242		tolerated(0.09)	1,1	GADL1_HUMAN	GADL1	HGNC	Q6ZQY3	GADL1_HUMAN					8	796	-			UPI000022BF90	250					SNV	GADL1,missense_variant,p.Glu250Val,ENST00000454381,;GADL1,missense_variant,p.Glu250Val,ENST00000282538,NM_207359.2;	uc003cep.2	c.749A>T	900/3759	1	1			c.749A>T						3	SNP	c.(748-750)GAG>GTG	61	61				0	Broad	glutamate decarboxylase-like 1		Pyridoxal Phosphate(DB00114)	30885739		0.438	ENSG00000144644	6079	g.chr3:30885739T>A	carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding							290.39422	KEEP	44	69	-1	109	134	44	69	-1	299.977215	109	134	0.320359	1	0	0	0	0	1	0	0	0	--	--		0	A			GADL1_uc003ceq.1_Missense_Mutation_p.E250V	157	GBM-16-1045-TP	p.E250V	T	CTCCAGTTCCTCAGGTATCAT	NM_207359	NP_997242	30885739	Q6ZQY3	GADL1_HUMAN	0			8	796	-	A	A			Missense_Mutation	250						
GAK	0	broad.mit.edu	GRCh37	4	860238	860238	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6192-01	TCGA-76-6192-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314167.4:c.2957A>G	p.Asn986Ser	p.N986S	ENST00000314167	NM_005255.2	986	aAt/aGt	0		C:0	1	C:0.0014		C	N/S	uc003gbm.3	protein_coding	YES	CCDS3340.1			2957/3936									lung(2)|central_nervous_system(1)|skin(1)	4	c.(2956-2958)AAT>AGT			hmmpanther:PTHR23172,hmmpanther:PTHR23172:SF34	cyclin G associated kinase		C:0		ENSP00000314499	C:0	22/28	1.65E-05		0.000174						rs200252102,COSM3409592	22/28	.		ENST00000314167	Transcript		C:0.0002	cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	ENSG00000178950	g.chr4:860238T>C	4113			MODERATE		1.08	low	getma.org/?cm=msa&ty=f&p=GAK_HUMAN&rb=794&re=1203&var=N986S	NA	getma.org/?cm=var&var=hg19,4,860238,T,C&fts=all	N986S	--	--	1																																		GAK_uc003gbn.3_Missense_Mutation_p.N907S|GAK_uc010ibi.2_Missense_Mutation_p.N167S|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Missense_Mutation_p.N839S	0,1	1		benign(0.009)	p.N986S	NM_005255	NP_005246	C:0	tolerated(0.3)	0,1	GAK_HUMAN	GAK	HGNC	O14976	GAK_HUMAN		Colorectal(103;0.219)	Q59HA5_HUMAN,D6RF16_HUMAN,D6RC24_HUMAN		22	3156	-			UPI000012B04A	986					SNV	GAK,missense_variant,p.Asn986Ser,ENST00000314167,NM_005255.2;GAK,missense_variant,p.Asn907Ser,ENST00000511163,;GAK,missense_variant,p.Asn98Ser,ENST00000511980,;GAK,missense_variant,p.Asn106Ser,ENST00000510799,;GAK,non_coding_transcript_exon_variant,,ENST00000509566,;GAK,non_coding_transcript_exon_variant,,ENST00000515868,;	uc003gbm.3	c.2957A>G	3068/4442	3	3			c.2957A>G						4	SNP	c.(2956-2958)AAT>AGT	54	54			lung(2)|central_nervous_system(1)|skin(1)	4	Broad	cyclin G associated kinase			860238		0.622	ENSG00000178950	6082	g.chr4:860238T>C	cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			679			679	52.511227	KEEP	4	12	-1	18	18	4	12	-1	53.935424	18	18	0.32	1	0	0	0	0	1	0	0	0	--	--		0	C			GAK_uc003gbn.3_Missense_Mutation_p.N907S|GAK_uc010ibi.2_Missense_Mutation_p.N167S|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Missense_Mutation_p.N839S	275	GBM-76-6192-TP	p.N986S	T	AGAGTCCGAATTGAGAAATTC	NM_005255	NP_005246	860238	O14976	GAK_HUMAN	0		Colorectal(103;0.219)	22	3156	-	C	C			Missense_Mutation	986						
GAK	2580		GRCh37	4	875807	875807	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000314167.4:c.1549G>C	p.Val517Leu	p.V517L	ENST00000314167	NM_005255.2	517	Gtg/Ctg	0																																																																																																																																																																																																																																												
GAL3ST1	9514	broad.mit.edu	GRCh37	22	30951019	30951019	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0192-01	TCGA-06-0192-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000402321.1:c.1193T>G	p.Ile398Ser	p.I398S	ENST00000402321		398	aTc/aGc	0			1			C	I/S	uc003aig.1	protein_coding		CCDS13879.1			1193/1272										0	c.(1192-1194)ATC>AGC			hmmpanther:PTHR14647,hmmpanther:PTHR14647:SF56,Pfam_domain:PF06990	galactose-3-O-sulfotransferase 1				ENSP00000343234		3-Mar									COSM2150651	3-Mar	.		ENST00000338911	Transcript			protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	ENSG00000128242	g.chr22:30951019A>C	24240			MODERATE		2.25	medium	getma.org/?cm=msa&ty=f&p=G3ST1_HUMAN&rb=1&re=408&var=I398S	NA	getma.org/?cm=var&var=hg19,22,30951019,A,C&fts=all	I398S	--	--	1																																		GAL3ST1_uc003aih.1_Missense_Mutation_p.I398S|GAL3ST1_uc003aii.1_Missense_Mutation_p.I398S|GAL3ST1_uc010gvz.1_Missense_Mutation_p.I398S	1			probably_damaging(0.976)	p.I398S	NM_004861	NP_004852		deleterious(0)	1	G3ST1_HUMAN	GAL3ST1	HGNC	Q99999	G3ST1_HUMAN			C9K037_HUMAN,C9JYD7_HUMAN,C9JU54_HUMAN,C9JN55_HUMAN,C9JLB5_HUMAN,C9JKD7_HUMAN,C9JIS3_HUMAN,C9JGL4_HUMAN,C9J993_HUMAN,C9J6M2_HUMAN,C9J4I2_HUMAN,C9J2X7_HUMAN,C9J2M1_HUMAN		4	1333	-			UPI00001285C2	398			Lumenal (Potential).		SNV	GAL3ST1,missense_variant,p.Ile398Ser,ENST00000402321,;GAL3ST1,missense_variant,p.Ile398Ser,ENST00000406361,;GAL3ST1,missense_variant,p.Ile398Ser,ENST00000401975,NM_004861.1;GAL3ST1,missense_variant,p.Ile398Ser,ENST00000338911,;GAL3ST1,missense_variant,p.Ile398Ser,ENST00000402369,;GAL3ST1,missense_variant,p.Ile398Ser,ENST00000406955,;GAL3ST1,missense_variant,p.Ile398Ser,ENST00000443111,;GAL3ST1,downstream_gene_variant,,ENST00000441967,;GAL3ST1,downstream_gene_variant,,ENST00000452827,;GAL3ST1,downstream_gene_variant,,ENST00000431313,;GAL3ST1,downstream_gene_variant,,ENST00000437282,;GAL3ST1,downstream_gene_variant,,ENST00000423299,;GAL3ST1,downstream_gene_variant,,ENST00000453479,;GAL3ST1,downstream_gene_variant,,ENST00000423371,;GAL3ST1,downstream_gene_variant,,ENST00000443136,;GAL3ST1,downstream_gene_variant,,ENST00000416358,;GAL3ST1,downstream_gene_variant,,ENST00000448604,;GAL3ST1,downstream_gene_variant,,ENST00000411821,;GAL3ST1,downstream_gene_variant,,ENST00000445645,;GAL3ST1,downstream_gene_variant,,ENST00000447224,;GAL3ST1,downstream_gene_variant,,ENST00000426220,;GAL3ST1,downstream_gene_variant,,ENST00000428682,;GAL3ST1,downstream_gene_variant,,ENST00000427899,;	uc003aig.1	c.1193T>G	1333/1728	4	4			c.1193T>G						22	SNP	c.(1192-1194)ATC>AGC	33	33				0	Broad	galactose-3-O-sulfotransferase 1			30951019		0.642	ENSG00000128242	6084	g.chr22:30951019A>C	protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity							120.25679	KEEP	26	22	-1	56	51	26	22	-1	125.968223	56	51	0.284672	1	0	0	0	0	1	0	0	0	--	--		0	C			GAL3ST1_uc003aih.1_Missense_Mutation_p.I398S|GAL3ST1_uc003aii.1_Missense_Mutation_p.I398S|GAL3ST1_uc010gvz.1_Missense_Mutation_p.I398S	44	GBM-06-0192-TP	p.I398S	A	CAGGTACTGGATCTCGGGCGT	NM_004861	NP_004852	30951019	Q99999	G3ST1_HUMAN	0			4	1333	-	C	C			Missense_Mutation	398			Lumenal (Potential).			
GAL3ST4	79690	broad.mit.edu	GRCh37	7	99758263	99758263	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01	TCGA-02-0047-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360039.4:c.749G>A	p.Arg250Gln	p.R250Q	ENST00000360039	NM_024637.4	250	cGa/cAa	0			1			T	R/Q	uc003utt.2	protein_coding	YES	CCDS5688.1			749/1461									ovary(3)	3	c.(748-750)CGA>CAA			hmmpanther:PTHR14647,hmmpanther:PTHR14647:SF57	galactose-3-O-sulfotransferase 4				ENSP00000353142		4-Apr	2.47E-05	0.000106		0.000116		1.55E-05			COSM2149006	4-Apr	.		ENST00000360039	Transcript			cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	ENSG00000197093	g.chr7:99758263C>T	24145			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=G3ST4_HUMAN&rb=232&re=276&var=R250Q	NA	getma.org/?cm=var&var=hg19,7,99758263,C,T&fts=all	R250Q	--	--	1																																		C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.R250Q|GAL3ST4_uc010lgq.2_Missense_Mutation_p.R188Q	1	1		benign(0.001)	p.R250Q	NM_024637	NP_078913		tolerated(0.54)	1	G3ST4_HUMAN	GAL3ST4	HGNC	Q96RP7	G3ST4_HUMAN					3	1766	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		UPI0000070C68	250			Lumenal (Potential).		SNV	GAL3ST4,missense_variant,p.Arg250Gln,ENST00000360039,NM_024637.4;GAL3ST4,missense_variant,p.Arg250Gln,ENST00000413800,;GAL3ST4,missense_variant,p.Glu149Lys,ENST00000423751,;GAL3ST4,missense_variant,p.Glu149Lys,ENST00000411994,;GAL3ST4,missense_variant,p.Arg188Gln,ENST00000426974,;C7orf43,upstream_gene_variant,,ENST00000316937,NM_018275.3;C7orf43,upstream_gene_variant,,ENST00000456769,;C7orf43,upstream_gene_variant,,ENST00000457641,;C7orf43,upstream_gene_variant,,ENST00000419841,;C7orf43,upstream_gene_variant,,ENST00000394035,;MIR4658,upstream_gene_variant,,ENST00000584344,;C7orf43,upstream_gene_variant,,ENST00000498638,;GAL3ST4,downstream_gene_variant,,ENST00000498000,;LAMTOR4,downstream_gene_variant,,ENST00000490633,;C7orf43,upstream_gene_variant,,ENST00000472061,;GAL3ST4,non_coding_transcript_exon_variant,,ENST00000495882,;C7orf43,upstream_gene_variant,,ENST00000419037,;C7orf43,upstream_gene_variant,,ENST00000448720,;C7orf43,upstream_gene_variant,,ENST00000470260,;	uc003utt.2	c.749G>A	1142/2537	1	1			c.749G>A						7	SNP	c.(748-750)CGA>CAA	7	7			ovary(3)	3	Broad	galactose-3-O-sulfotransferase 4			99758263		0.567	ENSG00000197093	6087	g.chr7:99758263C>T	cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity							337.002915	KEEP	72	70	-1	162	138	72	70	-1	347.518792	162	138	0.325641	1	0	0	0	0	1	0	0	0	--	--		0	T			C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.R250Q|GAL3ST4_uc010lgq.2_Missense_Mutation_p.R188Q	3	GBM-02-0047-TP	p.R250Q	C	GGTTTGGGCTCGAGGGCCAGC	NM_024637	NP_078913	99758263	Q96RP7	G3ST4_HUMAN	0			3	1766	-	T	T	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		Missense_Mutation	250			Lumenal (Potential).			
GAL3ST4	79690		GRCh37	7	99764391	99764391	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000360039.4:c.163T>A	p.Ser55Thr	p.S55T	ENST00000360039	NM_024637.4	55	Tcc/Acc	0																																																																																																																																																																																																																																												
GALC	0	broad.mit.edu	GRCh37	14	88416243	88416243	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-27-2526-01	TCGA-27-2526-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261304.2:c.1284C>A	p.Thr428=	p.T428=	ENST00000261304	NM_000153.3	428	acC/acA	0			1			T	T	uc001xvt.2	protein_coding	YES	CCDS9878.2			1284/2058										0	c.(1282-1284)ACC>ACA			Pfam_domain:PF02057,hmmpanther:PTHR15172,hmmpanther:PTHR15172:SF1	galactosylceramidase isoform a precursor				ENSP00000261304		17-Dec									COSM3401493	17-Dec	.		ENST00000261304	Transcript	1		carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	ENSG00000054983	g.chr14:88416243G>T	4115			LOW								--	--	1																																		GALC_uc010tvw.1_RNA|GALC_uc010tvx.1_Silent_p.T402T|GALC_uc010tvy.1_Silent_p.T405T|GALC_uc010tvz.1_Silent_p.T372T	1	1			p.T428T	NM_000153	NP_000144			1	GALC_HUMAN	GALC	HGNC	P54803	GALC_HUMAN					12	1683	-			UPI00001FD982	428					SNV	GALC,synonymous_variant,p.=,ENST00000261304,NM_000153.3,NM_001201401.1;GALC,synonymous_variant,p.=,ENST00000393569,NM_001201402.1;GALC,synonymous_variant,p.=,ENST00000544807,;GALC,synonymous_variant,p.=,ENST00000393568,;GALC,synonymous_variant,p.=,ENST00000555000,;GALC,coding_sequence_variant,p.=,ENST00000555179,;GALC,3_prime_UTR_variant,,ENST00000557316,;FAM35CP,upstream_gene_variant,,ENST00000554755,;	uc001xvt.2	c.1284C>A	1391/3883	1	1			c.1284C>A						14	SNP	c.(1282-1284)ACC>ACA	8	8				0	Broad	galactosylceramidase isoform a precursor			88416243		0.333	ENSG00000054983	6088	g.chr14:88416243G>T	carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity							-49.306225	KEEP	2	4	0.333333333	114	132	2	4	0.333333333	6.489607	114	132	0.018692	1	0	0	0	0	0	0	1	0	--	--		0	T			GALC_uc010tvw.1_RNA|GALC_uc010tvx.1_Silent_p.T402T|GALC_uc010tvy.1_Silent_p.T405T|GALC_uc010tvz.1_Silent_p.T372T	203	GBM-27-2526-TP	p.T428T	G	TTCCAAGTTTGGTATACCATA	NM_000153	NP_000144	88416243	P54803	GALC_HUMAN	0			12	1683	-	T	T			Silent	428						
GALC	0	broad.mit.edu	GRCh37	14	88431916	88431916	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261304.2:c.966C>T	p.Cys322=	p.C322=	ENST00000261304	NM_000153.3	322	tgC/tgT	0			1			A	C	uc001xvt.2	protein_coding	YES	CCDS9878.2			966/2058										0	c.(964-966)TGC>TGT			Gene3D:3.20.20.80,Pfam_domain:PF02057,hmmpanther:PTHR15172,hmmpanther:PTHR15172:SF1,Superfamily_domains:SSF51445	galactosylceramidase isoform a precursor				ENSP00000261304		17-Sep	4.14E-05		0.000175	0.000116				6.06E-05	rs772842910,COSM2250057	17-Sep	.		ENST00000261304	Transcript	1		carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	ENSG00000054983	g.chr14:88431916G>A	4115			LOW								--	--	1																																		GALC_uc010tvw.1_RNA|GALC_uc010tvx.1_Silent_p.C296C|GALC_uc010tvy.1_Silent_p.C299C|GALC_uc010tvz.1_Silent_p.C266C|GALC_uc001xvu.1_Silent_p.C322C	0,1	1			p.C322C	NM_000153	NP_000144			0,1	GALC_HUMAN	GALC	HGNC	P54803	GALC_HUMAN					9	1365	-			UPI00001FD982	322					SNV	GALC,synonymous_variant,p.=,ENST00000261304,NM_000153.3,NM_001201401.1;GALC,synonymous_variant,p.=,ENST00000393569,NM_001201402.1;GALC,synonymous_variant,p.=,ENST00000544807,;GALC,synonymous_variant,p.=,ENST00000393568,;GALC,non_coding_transcript_exon_variant,,ENST00000557520,;GALC,synonymous_variant,p.=,ENST00000555000,;GALC,3_prime_UTR_variant,,ENST00000557316,;GALC,non_coding_transcript_exon_variant,,ENST00000474294,;GALC,downstream_gene_variant,,ENST00000477716,;	uc001xvt.2	c.966C>T	1073/3883	2	2			c.966C>T						14	SNP	c.(964-966)TGC>TGT	43	43				0	Broad	galactosylceramidase isoform a precursor			88431916		0.448	ENSG00000054983	6088	g.chr14:88431916G>A	carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity							-4.494194	KEEP	3	0	-1	24	31	3	0	-1	6.978624	24	31	0.054545	1	0	0	0	0	0	0	1	0	--	--		0	A			GALC_uc010tvw.1_RNA|GALC_uc010tvx.1_Silent_p.C296C|GALC_uc010tvy.1_Silent_p.C299C|GALC_uc010tvz.1_Silent_p.C266C|GALC_uc001xvu.1_Silent_p.C322C	270	GBM-76-4931-TP	p.C322C	G	TCATCAACCCGCATCTCCCAT	NM_000153	NP_000144	88431916	P54803	GALC_HUMAN	0			9	1365	-	A	A			Silent	322						
GALE	0	broad.mit.edu	GRCh37	1	24123528	24123528	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-5134-01	TCGA-26-5134-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374497.3:c.638C>T	p.Ser213Phe	p.S213F	ENST00000374497	NM_001008216.1	213	tCc/tTc	0			1			A	S/F	uc009vqo.1	protein_coding	YES	CCDS242.1			638/1047										0	c.(637-639)TCC>TTC			Gene3D:3.90.25.10,Pfam_domain:PF01370,hmmpanther:PTHR10366,hmmpanther:PTHR10366:SF39,Superfamily_domains:SSF51735,TIGRFAM_domain:TIGR01179	UDP-galactose-4-epimerase				ENSP00000363621		12-Jul									COSM2157016	12-Jul	.		ENST00000374497	Transcript	1		galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity	ENSG00000117308	g.chr1:24123528G>A	4116			MODERATE		1.06	low	getma.org/?cm=msa&ty=f&p=GALE_HUMAN&rb=5&re=270&var=S213F	getma.org/pdb.php?prot=GALE_HUMAN&from=5&to=270&var=S213F	getma.org/?cm=var&var=hg19,1,24123528,G,A&fts=all	S213F	--	--	1																																		GALE_uc001bhv.1_Missense_Mutation_p.S213F|GALE_uc001bhw.1_Missense_Mutation_p.S213F|GALE_uc001bhx.1_Missense_Mutation_p.S213F|GALE_uc009vqp.1_Missense_Mutation_p.S213F|GALE_uc001bhy.1_Missense_Mutation_p.S213F|GALE_uc001bhz.1_Missense_Mutation_p.S139F|GALE_uc001bia.2_Missense_Mutation_p.S5F	1	1		probably_damaging(0.997)	p.S213F	NM_001127621	NP_001121093		deleterious(0)	1	GALE_HUMAN	GALE	HGNC	Q14376	GALE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)	Q5QPP3_HUMAN,Q5QPP2_HUMAN,Q5QPP1_HUMAN,Q38G75_HUMAN		6	848	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	UPI000011133A	213					SNV	GALE,missense_variant,p.Ser213Phe,ENST00000374497,NM_001008216.1,NM_001127621.1,NM_000403.3;GALE,missense_variant,p.Ser149Phe,ENST00000429356,;GALE,missense_variant,p.Ser149Phe,ENST00000418277,;HMGCL,downstream_gene_variant,,ENST00000374483,;LYPLA2,downstream_gene_variant,,ENST00000374514,NM_007260.2;HMGCL,downstream_gene_variant,,ENST00000374490,NM_000191.2;LYPLA2,downstream_gene_variant,,ENST00000400061,;HMGCL,downstream_gene_variant,,ENST00000436439,NM_001166059.1;LYPLA2,downstream_gene_variant,,ENST00000374501,;HMGCL,downstream_gene_variant,,ENST00000235958,;LYPLA2,downstream_gene_variant,,ENST00000374502,;LYPLA2,downstream_gene_variant,,ENST00000374505,;GALE,downstream_gene_variant,,ENST00000425913,;LYPLA2,downstream_gene_variant,,ENST00000374503,;GALE,downstream_gene_variant,,ENST00000445705,;GALE,upstream_gene_variant,,ENST00000456977,;LYPLA2,downstream_gene_variant,,ENST00000420982,;LYPLA2,downstream_gene_variant,,ENST00000421070,;GALE,non_coding_transcript_exon_variant,,ENST00000481736,;GALE,non_coding_transcript_exon_variant,,ENST00000459934,;GALE,non_coding_transcript_exon_variant,,ENST00000469556,;GALE,downstream_gene_variant,,ENST00000470383,;GALE,downstream_gene_variant,,ENST00000467493,;LYPLA2,downstream_gene_variant,,ENST00000495365,;LYPLA2,downstream_gene_variant,,ENST00000472213,;LYPLA2,downstream_gene_variant,,ENST00000492577,;GALE,downstream_gene_variant,,ENST00000466250,;GALE,downstream_gene_variant,,ENST00000467070,;GALE,downstream_gene_variant,,ENST00000470949,;GALE,downstream_gene_variant,,ENST00000486382,;HMGCL,downstream_gene_variant,,ENST00000374487,;	uc009vqo.1	c.638C>T	730/1488	2	2			c.638C>T						1	SNP	c.(637-639)TCC>TTC	24	24				0	Broad	UDP-galactose-4-epimerase			24123528		0.587	ENSG00000117308	6089	g.chr1:24123528G>A	galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity	Colon(17;142 583 2667 10036 24961)			Colon(17;142 583 2667 10036 24961)			46.72249	KEEP	7	9	-1	10	13	7	9	-1	47.01045	10	13	0.405405	1	0	0	0	0	1	0	0	0	--	--		0	A			GALE_uc001bhv.1_Missense_Mutation_p.S213F|GALE_uc001bhw.1_Missense_Mutation_p.S213F|GALE_uc001bhx.1_Missense_Mutation_p.S213F|GALE_uc009vqp.1_Missense_Mutation_p.S213F|GALE_uc001bhy.1_Missense_Mutation_p.S213F|GALE_uc001bhz.1_Missense_Mutation_p.S139F|GALE_uc001bia.2_Missense_Mutation_p.S5F	183	GBM-26-5134-TP	p.S213F	G	CCTTACCTGGGAGACATAAGG	NM_001127621	NP_001121093	24123528	Q14376	GALE_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)	6	848	-	A	A		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	213						
GALK1	0	broad.mit.edu	GRCh37	17	73754163	73754163	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-26-1439-01	TCGA-26-1439-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000225614.2:c.1153G>T	p.Asp385Tyr	p.D385Y	ENST00000225614		385	Gat/Tat	0			1			A	D/Y	uc010wsi.1	protein_coding		CCDS11728.1			1153/1179										0	c.(1153-1155)GAT>TAT			hmmpanther:PTHR10457:SF6,hmmpanther:PTHR10457,Gene3D:3.30.70.890,PIRSF_domain:PIRSF000530,Superfamily_domains:SSF55060	galactokinase 1				ENSP00000225614		9-Aug									COSM2156859	9-Aug	.		ENST00000225614	Transcript	1		galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding	ENSG00000108479	g.chr17:73754163C>A	4118			MODERATE		3.475	medium	getma.org/?cm=msa&ty=f&p=GALK1_HUMAN&rb=345&re=392&var=D385Y	getma.org/pdb.php?prot=GALK1_HUMAN&from=375&to=392&var=D385Y	getma.org/?cm=var&var=hg19,17,73754163,C,A&fts=all	D385Y	--	--	1																																		GALK1_uc002jpk.2_Missense_Mutation_p.D385Y	1			possibly_damaging(0.462)	p.D385Y	NM_000154	NP_000145		deleterious(0.02)	1	GALK1_HUMAN	GALK1	HGNC	P51570	GALK1_HUMAN	all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		Q71UH7_HUMAN,C8CHJ6_HUMAN		8	1216	-	all_cancers(13;1.5e-07)		UPI000012B056	385					SNV	GALK1,missense_variant,p.Asp385Tyr,ENST00000588479,;GALK1,missense_variant,p.Asp385Tyr,ENST00000225614,;GALK1,missense_variant,p.Asp415Tyr,ENST00000437911,NM_000154.1;GALK1,missense_variant,p.Asp177Tyr,ENST00000592997,;ITGB4,downstream_gene_variant,,ENST00000200181,NM_000213.3;ITGB4,downstream_gene_variant,,ENST00000339591,;ITGB4,downstream_gene_variant,,ENST00000449880,NM_001005619.1;ITGB4,downstream_gene_variant,,ENST00000450894,NM_001005731.1;ITGB4,downstream_gene_variant,,ENST00000579662,;ITGB4,downstream_gene_variant,,ENST00000583327,;ITGB4,downstream_gene_variant,,ENST00000578318,;ITGB4,downstream_gene_variant,,ENST00000584939,;ITGB4,downstream_gene_variant,,ENST00000582629,;GALK1,non_coding_transcript_exon_variant,,ENST00000586733,;GALK1,non_coding_transcript_exon_variant,,ENST00000589643,;GALK1,downstream_gene_variant,,ENST00000586244,;GALK1,downstream_gene_variant,,ENST00000592494,;GALK1,downstream_gene_variant,,ENST00000587707,;ITGB4,downstream_gene_variant,,ENST00000579211,;	uc010wsi.1	c.1153G>T	1253/1445	1	1			c.1153G>T						17	SNP	c.(1153-1155)GAT>TAT	54	54				0	Broad	galactokinase 1			73754163		0.682	ENSG00000108479	6090	g.chr17:73754163C>A	galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding							23.461889	KEEP	7	6	0.461538462	20	21	7	6	0.461538462	24.534937	20	21	0.3	1	0	0	0	0	1	0	0	0	--	--		0	A			GALK1_uc002jpk.2_Missense_Mutation_p.D385Y	179	GBM-26-1439-TP	p.D385Y	C	TTGGCTCCATCGGCTGCTTGA	NM_000154	NP_000145	73754163	P51570	GALK1_HUMAN	0	all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		8	1216	-	A	A	all_cancers(13;1.5e-07)		Missense_Mutation	385						
GALNS	2588		GRCh37	16	88891241	88891241	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000268695.5:c.1176G>A	p.Ala392=	p.A392=	ENST00000268695	NM_000512.4	392	gcG/gcA	0																																																																																																																																																																																																																																												
GALNT1	2589	broad.mit.edu	GRCh37	18	33257555	33257555	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269195.5:c.315G>A		p.X105_splice	ENST00000269195	NM_020474.3	105	ggG/ggA	0			1			A	G	uc010dmu.2	protein_coding	YES	CCDS11915.1			315/1680									ovary(2)	2	c.(313-315)GGG>GGA			hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF19,Superfamily_domains:SSF53448	polypeptide N-acetylgalactosaminyltransferase 1				ENSP00000269195		11-Mar									COSM2152140	11-Mar	.		ENST00000269195	Transcript			protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	ENSG00000141429	g.chr18:33257555G>A	4123			LOW								--	--	1																																		GALNT1_uc002kyz.3_Silent_p.G45G|GALNT1_uc002kzb.2_Silent_p.G105G	1	1			p.G105G	NM_020474	NP_065207			1	GALT1_HUMAN	GALNT1	HGNC	Q10472	GALT1_HUMAN			K7EJV8_HUMAN,F5GY99_HUMAN		4	368	+			UPI00001311FC	105			Lumenal (Potential).		SNV	GALNT1,splice_region_variant,p.=,ENST00000269195,NM_020474.3;GALNT1,splice_region_variant,p.=,ENST00000537549,;GALNT1,splice_region_variant,p.=,ENST00000589189,;GALNT1,splice_region_variant,,ENST00000590654,;	uc010dmu.2	c.315G>A	418/3847	2	2			c.315G>A						18	SNP	c.(313-315)GGG>GGA	22	22			ovary(2)	2	Broad	polypeptide N-acetylgalactosaminyltransferase 1			33257555		0.383	ENSG00000141429	6094	g.chr18:33257555G>A	protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding							206.116463	KEEP	39	37	-1	82	67	39	37	-1	210.655889	82	67	0.341463	1	0	0	0	0	0	0	1	0	--	--		0	A			GALNT1_uc002kyz.3_Silent_p.G45G|GALNT1_uc002kzb.2_Silent_p.G105G	73	GBM-06-0877-TP	p.G105G	G	TTGTCTCTAGGTGTAAAACAA	NM_020474	NP_065207	33257555	Q10472	GALT1_HUMAN	0			4	368	+	A	A			Silent	105			Lumenal (Potential).			
GALNT11	63917	broad.mit.edu	GRCh37	7	151805176	151805176	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0744-01	TCGA-06-0744-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000434507.1:c.766C>G	p.Gln256Glu	p.Q256E	ENST00000434507		256	Cag/Gag	0			1			G	Q/E	uc010lqg.1	protein_coding		CCDS5930.1			766/1827										0	c.(766-768)CAG>GAG			hmmpanther:PTHR11675:SF10,hmmpanther:PTHR11675,Pfam_domain:PF00535,Gene3D:3.90.550.10,Superfamily_domains:SSF53448	N-acetylgalactosaminyltransferase 11				ENSP00000395122		12-Jun									COSM3748364	12-Jun	.		ENST00000430044	Transcript				Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	ENSG00000178234	g.chr7:151805176C>G	19875			MODERATE		-0.9	neutral	getma.org/?cm=msa&ty=f&p=GLT11_HUMAN&rb=154&re=341&var=Q256E	getma.org/pdb.php?prot=GLT11_HUMAN&from=154&to=341&var=Q256E	getma.org/?cm=var&var=hg19,7,151805176,C,G&fts=all	Q256E	--	--	1																																		GALNT11_uc011kvm.1_Missense_Mutation_p.Q175E|GALNT11_uc003wku.2_Missense_Mutation_p.Q256E|GALNT11_uc011kvn.1_RNA|GALNT11_uc003wkw.1_Missense_Mutation_p.Q4E	1			benign(0.252)	p.Q256E	NM_022087	NP_071370		tolerated(0.74)	1	GLT11_HUMAN	GALNT11	HGNC	Q8NCW6	GLT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)	C9JMT8_HUMAN,C9J8A7_HUMAN,C9J111_HUMAN		6	996	+	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	UPI000004C2AA	256			Lumenal (Potential).|Catalytic subdomain A.		SNV	GALNT11,missense_variant,p.Gln256Glu,ENST00000434507,;GALNT11,missense_variant,p.Gln256Glu,ENST00000430044,NM_022087.2;GALNT11,missense_variant,p.Gln256Glu,ENST00000320311,;GALNT11,missense_variant,p.Gln175Glu,ENST00000452146,;GALNT11,3_prime_UTR_variant,,ENST00000422997,;GALNT11,downstream_gene_variant,,ENST00000415421,;GALNT11,downstream_gene_variant,,ENST00000447796,;GALNT11,downstream_gene_variant,,ENST00000419245,;GALNT11,downstream_gene_variant,,ENST00000423337,;GALNT11,downstream_gene_variant,,ENST00000446096,;GALNT11,downstream_gene_variant,,ENST00000482812,;GALNT11,3_prime_UTR_variant,,ENST00000447778,;GALNT11,non_coding_transcript_exon_variant,,ENST00000491061,;	uc010lqg.1	c.766C>G	996/2720	3	3			c.766C>G						7	SNP	c.(766-768)CAG>GAG	62	62				0	Broad	N-acetylgalactosaminyltransferase 11			151805176		0.582	ENSG00000178234	6096	g.chr7:151805176C>G		Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding							1.076542	KEEP	5	17	-1	42	45	5	17	-1	6.787432	42	45	0.125	1	0	0	0	0	1	0	0	0	--	--		0	G			GALNT11_uc011kvm.1_Missense_Mutation_p.Q175E|GALNT11_uc003wku.2_Missense_Mutation_p.Q256E|GALNT11_uc011kvn.1_RNA|GALNT11_uc003wkw.1_Missense_Mutation_p.Q4E	66	GBM-06-0744-TP	p.Q256E	C	GATGTGGCTGCAGCCCTTGCT	NM_022087	NP_071370	151805176	Q8NCW6	GLT11_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)	6	996	+	G	G	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	Missense_Mutation	256			Lumenal (Potential).|Catalytic subdomain A.			
GALNT13	114805	broad.mit.edu	GRCh37	2	155099286	155099286	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5417-01	TCGA-06-5417-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392825.3:c.554G>A	p.Arg185His	p.R185H	ENST00000392825	NM_052917.2	185	cGc/cAc	0			1			A	R/H	uc002tyr.3	protein_coding	YES	CCDS2199.1			554/1671									ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6	c.(553-555)CGC>CAC			Low_complexity_(Seg):seg,Superfamily_domains:SSF53448,Gene3D:3.90.550.10,Pfam_domain:PF00535,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF21	UDP-N-acetyl-alpha-D-galactosamine:polypeptide				ENSP00000376570		13-Jun	8.24E-06							6.07E-05	rs753565309,COSM3406948,COSM3406949	13-Jun	.		ENST00000392825	Transcript				Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	ENSG00000144278	g.chr2:155099286G>A	23242			MODERATE		3	medium	getma.org/?cm=msa&ty=f&p=GLT13_HUMAN&rb=118&re=302&var=R185H	getma.org/pdb.php?prot=GLT13_HUMAN&from=118&to=302&var=R185H	getma.org/?cm=var&var=hg19,2,155099286,G,A&fts=all	R185H	--	--	1																																		GALNT13_uc002tyt.3_Missense_Mutation_p.R185H|GALNT13_uc010foc.1_Missense_Mutation_p.R4H	0,1,1	1		possibly_damaging(0.807)	p.R185H	NM_052917	NP_443149		deleterious(0)	0,1,1	GLT13_HUMAN	GALNT13	HGNC	Q8IUC8	GLT13_HUMAN			Q68VI8_HUMAN		6	1121	+			UPI0000051E22	185			Lumenal (Potential).|Catalytic subdomain A.		SNV	GALNT13,missense_variant,p.Arg185His,ENST00000392825,NM_052917.2;GALNT13,missense_variant,p.Arg185His,ENST00000409237,;GALNT13,3_prime_UTR_variant,,ENST00000431076,;	uc002tyr.3	c.554G>A	1121/5536	1	1			c.554G>A						2	SNP	c.(553-555)CGC>CAC	60	60			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6	Broad	UDP-N-acetyl-alpha-D-galactosamine:polypeptide			155099286		0.388	ENSG00000144278	6098	g.chr2:155099286G>A		Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding							-16.639002	KEEP	2	3	-1	46	69	2	3	-1	6.695416	46	69	0.039216	1	0	0	0	0	1	0	0	0	--	--		0	A			GALNT13_uc002tyt.3_Missense_Mutation_p.R185H|GALNT13_uc010foc.1_Missense_Mutation_p.R4H	99	GBM-06-5417-TP	p.R185H	G	ATGGAAGAACGCTCTGGGTTA	NM_052917	NP_443149	155099286	Q8IUC8	GLT13_HUMAN	0			6	1121	+	A	A			Missense_Mutation	185			Lumenal (Potential).|Catalytic subdomain A.			
GALNT14	79623	broad.mit.edu	GRCh37	2	31178570	31178570	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01	TCGA-06-2565-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324589.5:c.583G>A	p.Ala195Thr	p.A195T	ENST00000324589	NM_001253826.1	195	Gcc/Acc	0			1			T	A/T	uc002rnr.2	protein_coding		CCDS1773.2			568/1659									upper_aerodigestive_tract(2)|skin(1)	3	c.(568-570)GCC>ACC			Gene3D:3.90.550.10,Pfam_domain:PF00535,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF8,Superfamily_domains:SSF53448	N-acetylgalactosaminyltransferase 14				ENSP00000288988		15-Jun									COSM1668832	15-Jun	.		ENST00000349752	Transcript				Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	ENSG00000158089	g.chr2:31178570C>T	22946			MODERATE		3.51	high	getma.org/?cm=msa&ty=f&p=GLT14_HUMAN&rb=114&re=292&var=A190T	getma.org/pdb.php?prot=GLT14_HUMAN&from=114&to=292&var=A190T	getma.org/?cm=var&var=hg19,2,31178570,C,T&fts=all	A190T	--	--	1																																		GALNT14_uc002rnq.2_Missense_Mutation_p.A170T|GALNT14_uc002rns.2_Missense_Mutation_p.A195T|GALNT14_uc010ymr.1_Missense_Mutation_p.A155T|GALNT14_uc010ezo.1_Missense_Mutation_p.A157T|GALNT14_uc010ezp.1_Missense_Mutation_p.A161T	1			probably_damaging(0.996)	p.A190T	NM_024572	NP_078848		deleterious(0)	1	GLT14_HUMAN	GALNT14	HGNC	Q96FL9	GLT14_HUMAN					6	1187	-	Acute lymphoblastic leukemia(172;0.155)		UPI000000D723	190			Lumenal (Potential).|Catalytic subdomain A.		SNV	GALNT14,missense_variant,p.Ala190Thr,ENST00000349752,NM_024572.3;GALNT14,missense_variant,p.Ala170Thr,ENST00000406653,NM_001253827.1;GALNT14,missense_variant,p.Ala195Thr,ENST00000324589,NM_001253826.1;GALNT14,missense_variant,p.Ala157Thr,ENST00000356174,;GALNT14,missense_variant,p.Ala155Thr,ENST00000420311,;GALNT14,missense_variant,p.Ala157Thr,ENST00000430167,;GALNT14,non_coding_transcript_exon_variant,,ENST00000464038,;GALNT14,non_coding_transcript_exon_variant,,ENST00000481023,;GALNT14,upstream_gene_variant,,ENST00000486564,;GALNT14,downstream_gene_variant,,ENST00000496397,;GALNT14,downstream_gene_variant,,ENST00000461193,;GALNT14,3_prime_UTR_variant,,ENST00000455477,;GALNT14,3_prime_UTR_variant,,ENST00000424136,;	uc002rnr.2	c.568G>A	1208/2733	2	2			c.568G>A						2	SNP	c.(568-570)GCC>ACC	24	24			upper_aerodigestive_tract(2)|skin(1)	3	Broad	N-acetylgalactosaminyltransferase 14			31178570		0.597	ENSG00000158089	6099	g.chr2:31178570C>T		Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding							108.713933	KEEP	20	16	-1	27	26	20	16	-1	109.222158	27	26	0.416667	1	0	0	0	0	1	0	0	0	--	--		0	T			GALNT14_uc002rnq.2_Missense_Mutation_p.A170T|GALNT14_uc002rns.2_Missense_Mutation_p.A195T|GALNT14_uc010ymr.1_Missense_Mutation_p.A155T|GALNT14_uc010ezo.1_Missense_Mutation_p.A157T|GALNT14_uc010ezp.1_Missense_Mutation_p.A161T	88	GBM-06-2565-TP	p.A190T	C	GTGCCCTGGGCGATGTCAGCG	NM_024572	NP_078848	31178570	Q96FL9	GLT14_HUMAN	0			6	1187	-	T	T	Acute lymphoblastic leukemia(172;0.155)		Missense_Mutation	190			Lumenal (Potential).|Catalytic subdomain A.			
GALNT14	79623	broad.mit.edu	GRCh37	2	31167749	31167749	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs143143842	by1000genomes	TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324589.5:c.817C>T	p.Arg273Cys	p.R273C	ENST00000324589	NM_001253826.1	273	Cgc/Tgc	0		A:0.0008	1	A:0		A	R/C	uc002rnr.2	protein_coding		CCDS1773.2			802/1659									upper_aerodigestive_tract(2)|skin(1)	3	c.(802-804)CGC>TGC			Gene3D:3.90.550.10,Pfam_domain:PF00535,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF8,Superfamily_domains:SSF53448	N-acetylgalactosaminyltransferase 14		A:0		ENSP00000288988	A:0	15-Aug	6.59E-05	9.69E-05		0.000116		9.08E-05			rs143143842,COSM281306	15-Aug	.		ENST00000349752	Transcript		A:0.0002		Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	ENSG00000158089	g.chr2:31167749G>A	22946			MODERATE		4.02	high	getma.org/?cm=msa&ty=f&p=GLT14_HUMAN&rb=114&re=292&var=R268C	getma.org/pdb.php?prot=GLT14_HUMAN&from=114&to=292&var=R268C	getma.org/?cm=var&var=hg19,2,31167749,G,A&fts=all	R268C	--	--	1																																		GALNT14_uc002rnq.2_Missense_Mutation_p.R248C|GALNT14_uc002rns.2_Missense_Mutation_p.R273C|GALNT14_uc010ymr.1_Missense_Mutation_p.R233C|GALNT14_uc010ezo.1_Missense_Mutation_p.R235C|GALNT14_uc010ezp.1_Intron	0,1			probably_damaging(0.992)	p.R268C	NM_024572	NP_078848	A:0	deleterious(0)	0,1	GLT14_HUMAN	GALNT14	HGNC	Q96FL9	GLT14_HUMAN					8	1421	-	Acute lymphoblastic leukemia(172;0.155)		UPI000000D723	268			Lumenal (Potential).		SNV	GALNT14,missense_variant,p.Arg268Cys,ENST00000349752,NM_024572.3;GALNT14,missense_variant,p.Arg248Cys,ENST00000406653,NM_001253827.1;GALNT14,missense_variant,p.Arg273Cys,ENST00000324589,NM_001253826.1;GALNT14,missense_variant,p.Arg235Cys,ENST00000356174,;GALNT14,missense_variant,p.Arg233Cys,ENST00000420311,;GALNT14,missense_variant,p.Arg235Cys,ENST00000430167,;GALNT14,non_coding_transcript_exon_variant,,ENST00000486564,;GALNT14,non_coding_transcript_exon_variant,,ENST00000481023,;GALNT14,intron_variant,,ENST00000464038,;GALNT14,intron_variant,,ENST00000455477,;GALNT14,downstream_gene_variant,,ENST00000424136,;	uc002rnr.2	c.802C>T	1442/2733	2	2			c.802C>T						2	SNP	c.(802-804)CGC>TGC	33	33			upper_aerodigestive_tract(2)|skin(1)	3	Broad	N-acetylgalactosaminyltransferase 14			31167749		0.587	ENSG00000158089	6099	g.chr2:31167749G>A		Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding							-14.78509	KEEP	2	2	-1	50	60	2	2	-1	8.020718	50	60	0.04	1	0	0	0	0	1	0	0	0	--	--		0	A			GALNT14_uc002rnq.2_Missense_Mutation_p.R248C|GALNT14_uc002rns.2_Missense_Mutation_p.R273C|GALNT14_uc010ymr.1_Missense_Mutation_p.R233C|GALNT14_uc010ezo.1_Missense_Mutation_p.R235C|GALNT14_uc010ezp.1_Intron	102	GBM-06-5858-TP	p.R268C	G	GGGTCCAGGCGCCGAGCCTTC	NM_024572	NP_078848	31167749	Q96FL9	GLT14_HUMAN	0			8	1421	-	A	A	Acute lymphoblastic leukemia(172;0.155)		Missense_Mutation	268			Lumenal (Potential).			
GALNT14	0	broad.mit.edu	GRCh37	2	31360949	31360949	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5947-01	TCGA-19-5947-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000349752.5:c.4C>T	p.Arg2Trp	p.R2W	ENST00000349752	NM_024572.3	2	Cgg/Tgg	0			1			A	R/W	uc002rnr.2	protein_coding		CCDS1773.2			4/1659									upper_aerodigestive_tract(2)|skin(1)	3	c.(4-6)CGG>TGG			hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF8	N-acetylgalactosaminyltransferase 14				ENSP00000288988		15-Jan									COSM3407816	15-Jan	.		ENST00000349752	Transcript				Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	ENSG00000158089	g.chr2:31360949G>A	22946			MODERATE		2.05	medium	getma.org/?cm=msa&ty=f&p=GLT14_HUMAN&rb=1&re=113&var=R2W	NA	getma.org/?cm=var&var=hg19,2,31360949,G,A&fts=all	R2W	--	--	1																																		GALNT14_uc002rns.2_Missense_Mutation_p.R2W|GALNT14_uc010ymr.1_5'UTR|GALNT14_uc010ezo.1_Missense_Mutation_p.R2W|GALNT14_uc010ezp.1_Intron	1			probably_damaging(0.924)	p.R2W	NM_024572	NP_078848		deleterious(0)	1	GLT14_HUMAN	GALNT14	HGNC	Q96FL9	GLT14_HUMAN					1	623	-	Acute lymphoblastic leukemia(172;0.155)		UPI000000D723	2			Cytoplasmic (Potential).		SNV	GALNT14,missense_variant,p.Arg2Trp,ENST00000349752,NM_024572.3;GALNT14,missense_variant,p.Arg2Trp,ENST00000324589,NM_001253826.1;GALNT14,missense_variant,p.Arg2Trp,ENST00000356174,;GALNT14,missense_variant,p.Arg2Trp,ENST00000430167,;GALNT14,upstream_gene_variant,,ENST00000420311,;GALNT14,intron_variant,,ENST00000464038,;GALNT14,intron_variant,,ENST00000485468,;GALNT14,upstream_gene_variant,,ENST00000461193,;GALNT14,upstream_gene_variant,,ENST00000455477,;GALNT14,upstream_gene_variant,,ENST00000424136,;	uc002rnr.2	c.4C>T	644/2733	2	2			c.4C>T						2	SNP	c.(4-6)CGG>TGG	42	42			upper_aerodigestive_tract(2)|skin(1)	3	Broad	N-acetylgalactosaminyltransferase 14			31360949		0.682	ENSG00000158089	6099	g.chr2:31360949G>A		Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding							-4.618001	KEEP	3	1	-1	23	35	3	1	-1	6.327918	23	35	0.056604	1	0	0	0	0	1	0	0	0	--	--		0	A			GALNT14_uc002rns.2_Missense_Mutation_p.R2W|GALNT14_uc010ymr.1_5'UTR|GALNT14_uc010ezo.1_Missense_Mutation_p.R2W|GALNT14_uc010ezp.1_Intron	169	GBM-19-5947-TP	p.R2W	G	GTCAGGCGCCGCATGGTCCCC	NM_024572	NP_078848	31360949	Q96FL9	GLT14_HUMAN	0			1	623	-	A	A	Acute lymphoblastic leukemia(172;0.155)		Missense_Mutation	2			Cytoplasmic (Potential).			
GALNT18	374378	broad.mit.edu	GRCh37	11	11398782	11398782	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0744-01	TCGA-06-0744-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000227756.4:c.924C>T	p.Tyr308=	p.Y308=	ENST00000227756	NM_198516.2	308	taC/taT	0			1			A	Y	uc001mjo.2	protein_coding	YES	CCDS7807.1			924/1824										0	c.(922-924)TAC>TAT			Superfamily_domains:SSF53448,Gene3D:3.90.550.10,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF37	UDP-N-acetyl-alpha-D-galactosamine:polypeptide				ENSP00000227756		11-May									COSM2151696	11-May	.		ENST00000227756	Transcript				Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	ENSG00000110328	g.chr11:11398782G>A	30488			LOW								--	--	1																																			1	1			p.Y308Y	NM_198516	NP_940918			1	GLT18_HUMAN	GALNT18	HGNC	Q6P9A2	GLTL4_HUMAN		all cancers(16;3.67e-05)|Epithelial(150;0.000184)	Q58A54_HUMAN		5	1345	-			UPI000004B63C	308			Lumenal (Potential).		SNV	GALNT18,synonymous_variant,p.=,ENST00000227756,NM_198516.2;	uc001mjo.2	c.924C>T	1336/2504	2	2			c.924C>T						11	SNP	c.(922-924)TAC>TAT	24	24				0	Broad	UDP-N-acetyl-alpha-D-galactosamine:polypeptide			11398782		0.532	ENSG00000110328	6110	g.chr11:11398782G>A		Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding							111.104402	KEEP	22	20	-1	39	30	22	20	-1	112.433406	39	30	0.378641	1	0	0	0	0	0	0	1	0	--	--		0	A				66	GBM-06-0744-TP	p.Y308Y	G	GGGGATTTAGGTAGCGGCACC	NM_198516	NP_940918	11398782	Q6P9A2	GLTL4_HUMAN	0		all cancers(16;3.67e-05)|Epithelial(150;0.000184)	5	1345	-	A	A			Silent	308			Lumenal (Potential).			
GALNT18	0	broad.mit.edu	GRCh37	11	11470460	11470460	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4208-01	TCGA-32-4208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000227756.4:c.259G>A	p.Ala87Thr	p.A87T	ENST00000227756	NM_198516.2	87	Gca/Aca	0			1			T	A/T	uc001mjo.2	protein_coding	YES	CCDS7807.1			259/1824										0	c.(259-261)GCA>ACA			Low_complexity_(Seg):seg,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF37	UDP-N-acetyl-alpha-D-galactosamine:polypeptide				ENSP00000227756		11-Feb									COSM3397429	11-Feb	.		ENST00000227756	Transcript				Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	ENSG00000110328	g.chr11:11470460C>T	30488			MODERATE		-0.55	neutral	getma.org/?cm=msa&ty=f&p=GLTL4_HUMAN&rb=1&re=156&var=A87T	NA	getma.org/?cm=var&var=hg19,11,11470460,C,T&fts=all	A87T	--	--	1																																			1	1		benign(0)	p.A87T	NM_198516	NP_940918		tolerated(0.6)	1	GLT18_HUMAN	GALNT18	HGNC	Q6P9A2	GLTL4_HUMAN		all cancers(16;3.67e-05)|Epithelial(150;0.000184)	Q58A54_HUMAN		2	680	-			UPI000004B63C	87			Lumenal (Potential).		SNV	GALNT18,missense_variant,p.Ala87Thr,ENST00000227756,NM_198516.2;	uc001mjo.2	c.259G>A	671/2504	2	2			c.259G>A						11	SNP	c.(259-261)GCA>ACA	42	42				0	Broad	UDP-N-acetyl-alpha-D-galactosamine:polypeptide			11470460		0.602	ENSG00000110328	6110	g.chr11:11470460C>T		Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding							5.947449	KEEP	4	0	-1	1	9	4	0	-1	6.401029	1	9	0.25	1	0	0	0	0	1	0	0	0	--	--		0	T				243	GBM-32-4208-TP	p.A87T	C	TCGGCCTCTGCCTCCTCAGGC	NM_198516	NP_940918	11470460	Q6P9A2	GLTL4_HUMAN	0		all cancers(16;3.67e-05)|Epithelial(150;0.000184)	2	680	-	T	T			Missense_Mutation	87			Lumenal (Potential).			
GALNT2	2590	broad.mit.edu	GRCh37	1	230314000	230314000	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0879-01	TCGA-06-0879-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366672.4:c.163G>C	p.Asp55His	p.D55H	ENST00000366672	NM_004481.3	55	Gac/Cac	0			1			C	D/H	uc010pwa.1	protein_coding	YES	CCDS1582.1			163/1716									ovary(2)	2	c.(163-165)GAC>CAC			hmmpanther:PTHR11675:SF24,hmmpanther:PTHR11675	polypeptide N-acetylgalactosaminyltransferase 2				ENSP00000355632		16-Feb									COSM2152277	16-Feb	.		ENST00000366672	Transcript			immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	ENSG00000143641	g.chr1:230314000G>C	4124			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=GALT2_HUMAN&rb=1&re=138&var=D55H	NA	getma.org/?cm=var&var=hg19,1,230314000,G,C&fts=all	D55H	--	--	1																																		GALNT2_uc010pvy.1_Missense_Mutation_p.D17H|GALNT2_uc010pvz.1_Intron	1	1		benign(0.238)	p.D55H	NM_004481	NP_004472		tolerated(0.12)	1	GALT2_HUMAN	GALNT2	HGNC	Q10471	GALT2_HUMAN					2	235	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	UPI0000074053	55			Lumenal (Potential).		SNV	GALNT2,missense_variant,p.Asp55His,ENST00000366672,NM_004481.3;GALNT2,missense_variant,p.Asp17His,ENST00000543760,;GALNT2,intron_variant,,ENST00000541865,;GALNT2,non_coding_transcript_exon_variant,,ENST00000494106,;	uc010pwa.1	c.163G>C	235/4454	3	3			c.163G>C						1	SNP	c.(163-165)GAC>CAC	56	56			ovary(2)	2	Broad	polypeptide N-acetylgalactosaminyltransferase 2			230314000		0.473	ENSG00000143641	6100	g.chr1:230314000G>C	immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding							106.578652	KEEP	9	26	-1	26	33	9	26	-1	107.717433	26	33	0.376471	1	0	0	0	0	1	0	0	0	--	--		0	C			GALNT2_uc010pvy.1_Missense_Mutation_p.D17H|GALNT2_uc010pvz.1_Intron	75	GBM-06-0879-TP	p.D55H	G	TAAAAAGAAAGACCTTCATCA	NM_004481	NP_004472	230314000	Q10471	GALT2_HUMAN	0			2	235	+	C	C	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	Missense_Mutation	55			Lumenal (Potential).			
GALNT3	2591	broad.mit.edu	GRCh37	2	166627133	166627133	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-5418-01	TCGA-06-5418-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392701.3:c.78A>G	p.Val26=	p.V26=	ENST00000392701	NM_004482.3	26	gtA/gtG	0			1			C	V	uc010fph.1	protein_coding	YES	CCDS2226.1			78/1902									central_nervous_system(2)|ovary(1)	3	c.(76-78)GTA>GTG			Transmembrane_helices:TMhelix,hmmpanther:PTHR11675:SF33,hmmpanther:PTHR11675	polypeptide N-acetylgalactosaminyltransferase 3				ENSP00000376465		11-Feb	8.25E-06							6.08E-05	rs780955506,COSM1659333	11-Feb	.		ENST00000392701	Transcript	1		protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	ENSG00000115339	g.chr2:166627133T>C	4125			LOW								--	--	1																																		GALNT3_uc010fpi.1_Silent_p.V26V|GALNT3_uc002udi.2_Silent_p.V26V	0,1	1			p.V26V	NM_004482	NP_004473			0,1	GALT3_HUMAN	GALNT3	HGNC	Q14435	GALT3_HUMAN			C9JXX2_HUMAN,C9JW45_HUMAN,C9J388_HUMAN,C9J2C3_HUMAN		2	465	-			UPI000013C989	26			Helical; Signal-anchor for type II membrane protein; (Potential).		SNV	GALNT3,synonymous_variant,p.=,ENST00000392701,NM_004482.3;GALNT3,synonymous_variant,p.=,ENST00000412248,;GALNT3,synonymous_variant,p.=,ENST00000414977,;GALNT3,synonymous_variant,p.=,ENST00000431484,;GALNT3,downstream_gene_variant,,ENST00000447156,;GALNT3,downstream_gene_variant,,ENST00000422973,;	uc010fph.1	c.78A>G	854/3868	3	3			c.78A>G						2	SNP	c.(76-78)GTA>GTG	52	52			central_nervous_system(2)|ovary(1)	3	Broad	polypeptide N-acetylgalactosaminyltransferase 3			166627133		0.313	ENSG00000115339	6101	g.chr2:166627133T>C	protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding							-28.993638	KEEP	2	1	-1	71	73	2	1	-1	6.838542	71	73	0.021429	1	0	0	0	0	0	0	1	0	--	--		0	C			GALNT3_uc010fpi.1_Silent_p.V26V|GALNT3_uc002udi.2_Silent_p.V26V	100	GBM-06-5418-TP	p.V26V	T	AGAAAAAAATTACTGCACCAA	NM_004482	NP_004473	166627133	Q14435	GALT3_HUMAN	0			2	465	-	C	C			Silent	26			Helical; Signal-anchor for type II membrane protein; (Potential).			
GALNT3	0	broad.mit.edu	GRCh37	2	166611230	166611230	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-2509-01	TCGA-28-2509-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392701.3:c.1533C>T	p.Ser511=	p.S511=	ENST00000392701	NM_004482.3	511	agC/agT	0			1			A	S	uc010fph.1	protein_coding	YES	CCDS2226.1			1533/1902									central_nervous_system(2)|ovary(1)	3	c.(1531-1533)AGC>AGT			hmmpanther:PTHR11675:SF33,hmmpanther:PTHR11675,Pfam_domain:PF00652,Gene3D:2.80.10.50,SMART_domains:SM00458,Superfamily_domains:SSF50370	polypeptide N-acetylgalactosaminyltransferase 3				ENSP00000376465		11-Sep	3.29E-05		9.23E-05			4.95E-05			rs770800462,COSM3406989	11-Sep	.		ENST00000392701	Transcript	1		protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	ENSG00000115339	g.chr2:166611230G>A	4125			LOW								--	--	1																																			0,1	1			p.S511S	NM_004482	NP_004473			0,1	GALT3_HUMAN	GALNT3	HGNC	Q14435	GALT3_HUMAN			C9JXX2_HUMAN,C9JW45_HUMAN,C9J388_HUMAN,C9J2C3_HUMAN		9	1920	-			UPI000013C989	511			Ricin B-type lectin.|Lumenal (Potential).		SNV	GALNT3,synonymous_variant,p.=,ENST00000392701,NM_004482.3;GALNT3,synonymous_variant,p.=,ENST00000409882,;GALNT3,downstream_gene_variant,,ENST00000412248,;GALNT3,downstream_gene_variant,,ENST00000437849,;GALNT3,downstream_gene_variant,,ENST00000463254,;	uc010fph.1	c.1533C>T	2309/3868	2	2			c.1533C>T						2	SNP	c.(1531-1533)AGC>AGT	21	21			central_nervous_system(2)|ovary(1)	3	Broad	polypeptide N-acetylgalactosaminyltransferase 3			166611230		0.303	ENSG00000115339	6101	g.chr2:166611230G>A	protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding							53.212133	KEEP	13	7	-1	17	10	13	7	-1	53.516881	17	10	0.413043	1	0	0	0	0	0	0	1	0	--	--		0	A				211	GBM-28-2509-TP	p.S511S	G	GCTGACCAACGCTTTTAATCT	NM_004482	NP_004473	166611230	Q14435	GALT3_HUMAN	0			9	1920	-	A	A			Silent	511			Ricin B-type lectin.|Lumenal (Potential).			
GALNT5	11227	broad.mit.edu	GRCh37	2	158165160	158165160	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01	TCGA-06-0743-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259056.4:c.2602G>A	p.Val868Ile	p.V868I	ENST00000259056	NM_014568.1	868	Gta/Ata	0		A:0	1	A:0		A	V/I	uc002tzg.2	protein_coding	YES	CCDS2203.1			2602/2823									breast(3)|skin(1)	4	c.(2602-2604)GTA>ATA			PROSITE_profiles:PS50231,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF16,Pfam_domain:PF00652,Gene3D:2.80.10.50,SMART_domains:SM00458,Superfamily_domains:SSF50370	N-acetylgalactosaminyltransferase 5		A:0.001		ENSP00000259056	A:0	10-Sep	0.000165	0.000481	8.68E-05	0.000463		0.00012		0.000121	rs200855507,COSM3406957	10-Sep	common_variant		ENST00000259056	Transcript		A:0.0002	glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	ENSG00000136542	g.chr2:158165160G>A	4127			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=GALT5_HUMAN&rb=810&re=936&var=V868I	NA	getma.org/?cm=var&var=hg19,2,158165160,G,A&fts=all	V868I	--	--	1																																		GALNT5_uc010zci.1_RNA	0,1	1		benign(0.001)	p.V868I	NM_014568	NP_055383	A:0	tolerated(0.17)	0,1	GALT5_HUMAN	GALNT5	HGNC	Q7Z7M9	GALT5_HUMAN			Q68VJ5_HUMAN		9	2857	+			UPI000019AD19	868			Lumenal (Potential).|Ricin B-type lectin.		SNV	GALNT5,missense_variant,p.Val868Ile,ENST00000259056,NM_014568.1;	uc002tzg.2	c.2602G>A	3087/6171	2	2			c.2602G>A						2	SNP	c.(2602-2604)GTA>ATA	34	34			breast(3)|skin(1)	4	Broad	N-acetylgalactosaminyltransferase 5			158165160		0.408	ENSG00000136542	6103	g.chr2:158165160G>A	glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding							218.754002	KEEP	44	48	-1	56	81	44	48	-1	220.262842	56	81	0.404255	1	0	0	0	0	1	0	0	0	--	--		0	A			GALNT5_uc010zci.1_RNA	65	GBM-06-0743-TP	p.V868I	G	TAAAGGAGCCGTAAGGCTGCA	NM_014568	NP_055383	158165160	Q7Z7M9	GALT5_HUMAN	0			9	2857	+	A	A			Missense_Mutation	868			Lumenal (Potential).|Ricin B-type lectin.			
GALNT5	0	broad.mit.edu	GRCh37	2	158114680	158114681	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C			TCGA-28-5220-01	TCGA-28-5220-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259056.4:c.87dupC	p.Met30HisfsTer10	p.M30Hfs*10	ENST00000259056	NM_014568.1	29	gac/gaCc	0			1			C	D/DX	uc002tzg.2	protein_coding	YES	CCDS2203.1			86-87/2823									breast(3)|skin(1)	4	c.(85-87)GACfs			Transmembrane_helices:TMhelix,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF16	N-acetylgalactosaminyltransferase 5				ENSP00000259056		10-Jan										10-Jan	.		ENST00000259056	Transcript			glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	ENSG00000136542	g.chr2:158114680_158114681insC	4127	1		HIGH								--	--	1																																		GALNT5_uc010zci.1_RNA		1			p.D29fs	NM_014568	NP_055383				GALT5_HUMAN	GALNT5	HGNC	Q7Z7M9	GALT5_HUMAN			Q68VJ5_HUMAN		1	341_342	+			UPI000019AD19	29			Helical; Signal-anchor for type II membrane protein; (Potential).		insertion	GALNT5,frameshift_variant,p.Met30HisfsTer10,ENST00000259056,NM_014568.1;	uc002tzg.2	c.86_87insC	571-572/6171	5	5			c.86_87insC						2	INS	c.(85-87)GACfs	45	45			breast(3)|skin(1)	4	Broad	N-acetylgalactosaminyltransferase 5			158114681		0.495	ENSG00000136542	6103	g.chr2:158114680_158114681insC	glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding																				0.35	1	0	0	1	1	0	0	0	0	--	--		0	C			GALNT5_uc010zci.1_RNA	226	GBM-28-5220-TP	p.D29fs	-	CTCCTCTTTGACATGGCAGCTC	NM_014568	NP_055383	158114680	Q7Z7M9	GALT5_HUMAN	0			1	341_342	+	C	C			Frame_Shift_Ins	29			Helical; Signal-anchor for type II membrane protein; (Potential).			
GALNT5	0	broad.mit.edu	GRCh37	2	158165186	158165186	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-76-4935-01	TCGA-76-4935-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259056.4:c.2628A>G	p.Arg876=	p.R876=	ENST00000259056	NM_014568.1	876	agA/agG	0			1			G	R	uc002tzg.2	protein_coding	YES	CCDS2203.1			2628/2823									breast(3)|skin(1)	4	c.(2626-2628)AGA>AGG			PROSITE_profiles:PS50231,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF16,Pfam_domain:PF00652,Gene3D:2.80.10.50,SMART_domains:SM00458,Superfamily_domains:SSF50370	N-acetylgalactosaminyltransferase 5				ENSP00000259056		10-Sep									COSM3406958	10-Sep	.		ENST00000259056	Transcript			glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	ENSG00000136542	g.chr2:158165186A>G	4127			LOW								--	--	1																																		GALNT5_uc010zci.1_RNA	1	1			p.R876R	NM_014568	NP_055383			1	GALT5_HUMAN	GALNT5	HGNC	Q7Z7M9	GALT5_HUMAN			Q68VJ5_HUMAN		9	2883	+			UPI000019AD19	876			Lumenal (Potential).|Ricin B-type lectin.		SNV	GALNT5,synonymous_variant,p.=,ENST00000259056,NM_014568.1;	uc002tzg.2	c.2628A>G	3113/6171	3	3			c.2628A>G						2	SNP	c.(2626-2628)AGA>AGG	61	61			breast(3)|skin(1)	4	Broad	N-acetylgalactosaminyltransferase 5			158165186		0.388	ENSG00000136542	6103	g.chr2:158165186A>G	glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding							329.253349	KEEP	57	51	-1	66	79	57	51	-1	329.94666	66	79	0.438679	1	0	0	0	0	0	0	1	0	--	--		0	G			GALNT5_uc010zci.1_RNA	273	GBM-76-4935-TP	p.R876R	A	GTGATAACAGAAACAAAGGGC	NM_014568	NP_055383	158165186	Q7Z7M9	GALT5_HUMAN	0			9	2883	+	G	G			Silent	876			Lumenal (Potential).|Ricin B-type lectin.			
GALNT6	11226		GRCh37	12	51773383	51773383	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000543196.2:c.183G>A	p.Met61Ile	p.M61I	ENST00000543196		61	atG/atA	0																																																																																																																																																																																																																																												
GALNT7	0	broad.mit.edu	GRCh37	4	174219326	174219326	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-16-0846-01	TCGA-16-0846-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265000.4:c.1026C>T	p.Pro342=	p.P342=	ENST00000265000	NM_017423.2	342	ccC/ccT	0			1			T	P	uc003isz.3	protein_coding	YES	CCDS3815.1			1026/1974									central_nervous_system(1)	1	c.(1024-1026)CCC>CCT			hmmpanther:PTHR11675:SF31,hmmpanther:PTHR11675,Gene3D:3.90.550.10,Pfam_domain:PF00535,Superfamily_domains:SSF53448	polypeptide N-acetylgalactosaminyltransferase 7				ENSP00000265000		12-Jun									COSM3409168	12-Jun	.		ENST00000265000	Transcript			protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	ENSG00000109586	g.chr4:174219326C>T	4129			LOW								--	--	1																																		GALNT7_uc011ckb.1_Intron	1	1			p.P342P	NM_017423	NP_059119			1	GALT7_HUMAN	GALNT7	HGNC	Q86SF2	GALT7_HUMAN		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)	Q4W5F7_HUMAN		6	1109	+		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	UPI000000DB3C	342			Lumenal (Potential).		SNV	GALNT7,synonymous_variant,p.=,ENST00000265000,NM_017423.2;GALNT7,3_prime_UTR_variant,,ENST00000512285,;GALNT7,intron_variant,,ENST00000505308,;GALNT7,downstream_gene_variant,,ENST00000502407,;GALNT7,non_coding_transcript_exon_variant,,ENST00000506317,;	uc003isz.3	c.1026C>T	1109/4307	2	2			c.1026C>T						4	SNP	c.(1024-1026)CCC>CCT	20	20			central_nervous_system(1)	1	Broad	polypeptide N-acetylgalactosaminyltransferase 7			174219326		0.473	ENSG00000109586	6105	g.chr4:174219326C>T	protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding							163.725023	KEEP	35	18	-1	33	14	35	18	-1	163.780746	33	14	0.525773	1	0	0	0	0	0	0	1	0	--	--		0	T			GALNT7_uc011ckb.1_Intron	155	GBM-16-0846-TP	p.P342P	C	AAATTATACCCCAAGGGGGTG	NM_017423	NP_059119	174219326	Q86SF2	GALT7_HUMAN	0		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)	6	1109	+	T	T		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	Silent	342			Lumenal (Potential).			
GALNT7	0	broad.mit.edu	GRCh37	4	174235303	174235303	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-76-4928-01	TCGA-76-4928-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265000.4:c.1584delA	p.Asn531MetfsTer29	p.N531Mfs*29	ENST00000265000	NM_017423.2	528	ccA/cc	0			1			-	P/X	uc003isz.3	protein_coding	YES	CCDS3815.1			1584/1974									central_nervous_system(1)	1	c.(1582-1584)CCAfs			hmmpanther:PTHR11675:SF31,hmmpanther:PTHR11675,Gene3D:2.80.10.50,Superfamily_domains:SSF50370	polypeptide N-acetylgalactosaminyltransferase 7				ENSP00000265000		12-Sep										12-Sep	.		ENST00000265000	Transcript			protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	ENSG00000109586	g.chr4:174235303delA	4129			HIGH								--	--	1																																		GALNT7_uc011ckb.1_Frame_Shift_Del_p.P305fs		1			p.P528fs	NM_017423	NP_059119				GALT7_HUMAN	GALNT7	HGNC	Q86SF2	GALT7_HUMAN		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)	Q4W5F7_HUMAN		9	1667	+		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	UPI000000DB3C	528			Lumenal (Potential).		deletion	GALNT7,frameshift_variant,p.Asn531MetfsTer29,ENST00000265000,NM_017423.2;GALNT7,frameshift_variant,p.Asn328MetfsTer29,ENST00000505308,;GALNT7,frameshift_variant,p.Asn102MetfsTer29,ENST00000503213,;GALNT7,upstream_gene_variant,,ENST00000515862,;GALNT7,downstream_gene_variant,,ENST00000506317,;	uc003isz.3	c.1584delA	1667/4307	5	5			c.1584delA						4	DEL	c.(1582-1584)CCAfs	33	33			central_nervous_system(1)	1	Broad	polypeptide N-acetylgalactosaminyltransferase 7			174235303		0.393	ENSG00000109586	6105	g.chr4:174235303delA	protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding																				0.14	1	1	0	1	0	0	0	0	0	--	--		0	-			GALNT7_uc011ckb.1_Frame_Shift_Del_p.P305fs	268	GBM-76-4928-TP	p.P528fs	A	ACCCTTTGCCACCCAAAAATG	NM_017423	NP_059119	174235303	Q86SF2	GALT7_HUMAN	0		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)	9	1667	+	-	-		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	Frame_Shift_Del	528			Lumenal (Potential).			
GALNT8	0	broad.mit.edu	GRCh37	12	4854615	4854615	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252318.2:c.881G>A	p.Arg294Gln	p.R294Q	ENST00000252318	NM_017417.1	294	cGg/cAg	0	A:0		1			A	R/Q	uc001qne.1	protein_coding	YES	CCDS8533.1			881/1914									ovary(2)|pancreas(1)|skin(1)	4	c.(880-882)CGG>CAG			hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF13,Pfam_domain:PF00535,Gene3D:3.90.550.10,Superfamily_domains:SSF53448	polypeptide N-acetylgalactosaminyltransferase 8			A:0.0001	ENSP00000252318		11-May	2.47E-05					4.50E-05			rs375631897,COSM693784	11-May	.		ENST00000252318	Transcript				Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	ENSG00000130035	g.chr12:4854615G>A	4130			MODERATE		1.69	low	getma.org/?cm=msa&ty=f&p=GALT8_HUMAN&rb=184&re=351&var=R294Q	getma.org/pdb.php?prot=GALT8_HUMAN&from=184&to=351&var=R294Q	getma.org/?cm=var&var=hg19,12,4854615,G,A&fts=all	R294Q	--	--	1																																			0,1	1		probably_damaging(0.986)	p.R294Q	NM_017417	NP_059113		tolerated(0.13)	0,1	GALT8_HUMAN	GALNT8	HGNC	Q9NY28	GALT8_HUMAN			Q68VJ3_HUMAN		5	973	+			UPI0000070DEC	294			Lumenal (Potential).|Catalytic subdomain A.		SNV	GALNT8,missense_variant,p.Arg294Gln,ENST00000252318,NM_017417.1;RP11-234B24.6,downstream_gene_variant,,ENST00000544741,;	uc001qne.1	c.881G>A	1218/2380	1	1			c.881G>A						12	SNP	c.(880-882)CGG>CAG	64	64			ovary(2)|pancreas(1)|skin(1)	4	Broad	polypeptide N-acetylgalactosaminyltransferase 8			4854615		0.478	ENSG00000130035	6106	g.chr12:4854615G>A		Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	Colon(108;631 1558 7270 20097 39846)			Colon(108;631 1558 7270 20097 39846)			130.465968	KEEP	30	18	-1	40	47	30	18	-1	131.319718	40	47	0.401961	1	0	0	0	0	1	0	0	0	--	--		0	A				142	GBM-14-1034-TP	p.R294Q	G	ATCTTGGCTCGGATTCAGGAG	NM_017417	NP_059113	4854615	Q9NY28	GALT8_HUMAN	0			5	973	+	A	A			Missense_Mutation	294			Lumenal (Potential).|Catalytic subdomain A.			
GALP	85569	broad.mit.edu	GRCh37	19	56691958	56691958	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0173-01	TCGA-06-0173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357330.2:c.91C>T	p.Arg31Ter	p.R31*	ENST00000357330	NM_033106.3	31	Cga/Tga	0			1			T	R/*	uc002qmo.1	protein_coding	YES	CCDS12940.1			91/351										0	c.(91-93)CGA>TGA			hmmpanther:PTHR20950:SF1,hmmpanther:PTHR20950	galanin-like peptide isoform 1 precursor				ENSP00000349884		6-Mar	8.24E-06	9.61E-05							rs745797059,COSM3404675	6-Mar	.		ENST00000357330	Transcript			neuropeptide signaling pathway	extracellular region	hormone activity	ENSG00000197487	g.chr19:56691958C>T	24840			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,19,56691958,C,T&fts=all	R31*	--	--	1																																		GALP_uc010eti.2_Intron	0,1	1			p.R31*	NM_033106	NP_149097			0,1	GALP_HUMAN	GALP	HGNC	Q9UBC7	GALP_HUMAN		GBM - Glioblastoma multiforme(193;0.0507)			3	173	+		Colorectal(82;0.000147)|Ovarian(87;0.243)	UPI0000039C09	31					SNV	GALP,stop_gained,p.Arg31Ter,ENST00000357330,NM_033106.3;GALP,intron_variant,,ENST00000440823,NM_001145546.1;GALP,intron_variant,,ENST00000590002,;	uc002qmo.1	c.91C>T	173/938	5	2			c.91C>T						19	SNP	c.(91-93)CGA>TGA	34	34				0	Broad	galanin-like peptide isoform 1 precursor			56691958		0.602	ENSG00000197487	6113	g.chr19:56691958C>T	neuropeptide signaling pathway	extracellular region	hormone activity							10.282337	KEEP	7	8	-1	49	53	7	8	-1	24.240618	49	53	0.108696	1	0	0	0	0	0	1	0	0	--	--		0	T			GALP_uc010eti.2_Intron	36	GBM-06-0173-TP	p.R31*	C	TATCCAGGGACGAGGAGGCTG	NM_033106	NP_149097	56691958	Q9UBC7	GALP_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0507)	3	173	+	T	T		Colorectal(82;0.000147)|Ovarian(87;0.243)	Nonsense_Mutation	31						
GALR1	2587	broad.mit.edu	GRCh37	18	74962646	74962646	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01	TCGA-06-0122-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299727.3:c.142G>A	p.Val48Met	p.V48M	ENST00000299727	NM_001480.3	48	Gtg/Atg	0			1			A	V/M	uc002lms.3	protein_coding	YES	CCDS12012.1			142/1050									lung(1)	1	c.(142-144)GTG>ATG			Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR24230,hmmpanther:PTHR24230:SF31,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	galanin receptor 1				ENSP00000299727		3-Jan									COSM2149251	3-Jan	.		ENST00000299727	Transcript			digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	ENSG00000166573	g.chr18:74962646G>A	4132			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=GALR1_HUMAN&rb=1&re=49&var=V48M	NA	getma.org/?cm=var&var=hg19,18,74962646,G,A&fts=all	V48M	--	--	1																																			1	1		benign(0.354)	p.V48M	NM_001480	NP_001471		tolerated(0.14)	1	GALR1_HUMAN	GALR1	HGNC	P47211	GALR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)			1	639	+		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	UPI000013E5DE	48			Helical; Name=1; (Potential).		SNV	GALR1,missense_variant,p.Val48Met,ENST00000299727,NM_001480.3;GALR1,upstream_gene_variant,,ENST00000582943,;	uc002lms.3	c.142G>A	142/1050	1	1			c.142G>A						18	SNP	c.(142-144)GTG>ATG	60	60			lung(1)	1	Broad	galanin receptor 1			74962646		0.682	ENSG00000166573	6114	g.chr18:74962646G>A	digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity							21.457111	KEEP	6	4	-1	10	20	6	4	-1	24.046153	10	20	0.230769	1	0	0	0	0	1	0	0	0	--	--		0	A				10	GBM-06-0122-TP	p.V48M	G	CGCGCTGGGTGTGCTGGGCAA	NM_001480	NP_001471	74962646	P47211	GALR1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)	1	639	+	A	A		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	Missense_Mutation	48			Helical; Name=1; (Potential).			
GALT	2592	broad.mit.edu	GRCh37	9	34648454	34648454	+	splice_donor_variant	Splice_Site	SNP	G	G	A			TCGA-06-0213-01	TCGA-06-0213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378842.3:c.687+1G>A		p.X229_splice	ENST00000378842	NM_000155.3	229		0			1			A		uc003zve.2	protein_coding	YES	CCDS6565.1			687/1140										0	c.e7+1				galactose-1-phosphate uridylyltransferase				ENSP00000368119											COSM3413625		.	Galactosemia	ENST00000378842	Transcript	1		galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding	ENSG00000213930	g.chr9:34648454G>A	4135			HIGH	10-Jul							--	--	1																																		GALT_uc003zvf.2_Splice_Site_p.K120_splice|GALT_uc003zvg.2_Splice_Site_p.K101_splice|GALT_uc003zvh.2_Splice_Site_p.K181_splice|GALT_uc011lop.1_Splice_Site_p.K181_splice|IL11RA_uc003zvi.2_5'Flank	1	1			p.K229_splice	NM_000155	NP_000146			1	GALT_HUMAN	GALT	HGNC	P07902	GALT_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)	P78433_HUMAN,G3V3U5_HUMAN,D3DRM8_HUMAN,D1MBF6_HUMAN,D0EM86_HUMAN		7	754	+	all_epithelial(49;0.102)		UPI000012B073						SNV	GALT,splice_donor_variant,,ENST00000378842,NM_000155.3;GALT,splice_donor_variant,,ENST00000450095,NM_001258332.1;GALT,splice_donor_variant,,ENST00000556278,;IL11RA,upstream_gene_variant,,ENST00000555003,;IL11RA,upstream_gene_variant,,ENST00000441545,NM_001142784.2;IL11RA,upstream_gene_variant,,ENST00000553620,;GALT,upstream_gene_variant,,ENST00000488412,;GALT,downstream_gene_variant,,ENST00000557541,;GALT,splice_donor_variant,,ENST00000557706,;GALT,splice_donor_variant,,ENST00000554638,;GALT,splice_donor_variant,,ENST00000554550,;GALT,splice_donor_variant,,ENST00000555086,;GALT,splice_donor_variant,,ENST00000473529,;GALT,splice_donor_variant,,ENST00000554085,;GALT,splice_donor_variant,,ENST00000473506,;GALT,splice_donor_variant,,ENST00000556244,;GALT,splice_donor_variant,,ENST00000555754,;GALT,non_coding_transcript_exon_variant,,ENST00000555020,;GALT,non_coding_transcript_exon_variant,,ENST00000489643,;GALT,non_coding_transcript_exon_variant,,ENST00000487381,;GALT,non_coding_transcript_exon_variant,,ENST00000472111,;GALT,non_coding_transcript_exon_variant,,ENST00000556494,;GALT,non_coding_transcript_exon_variant,,ENST00000555214,;IL11RA,upstream_gene_variant,,ENST00000555247,;GALT,downstream_gene_variant,,ENST00000485531,;GALT,downstream_gene_variant,,ENST00000554944,;GALT,downstream_gene_variant,,ENST00000465543,;GALT,downstream_gene_variant,,ENST00000554139,;GALT,downstream_gene_variant,,ENST00000605275,;GALT,downstream_gene_variant,,ENST00000554897,;GALT,downstream_gene_variant,,ENST00000556403,;GALT,downstream_gene_variant,,ENST00000556157,;GALT,downstream_gene_variant,,ENST00000554330,;GALT,downstream_gene_variant,,ENST00000468099,;	uc003zve.2	c.687_splice	-/1768	5	2			c.687_splice						9	SNP	c.e7+1	41	41				0	Broad	galactose-1-phosphate uridylyltransferase			34648454	Galactosemia	0.453	ENSG00000213930	6117	g.chr9:34648454G>A	galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding							3.038623	KEEP	6	7	-1	72	76	6	7	-1	23.969029	72	76	0.089431	1	0	0	0	0	0	0	0	1	--	--		0	A			GALT_uc003zvf.2_Splice_Site_p.K120_splice|GALT_uc003zvg.2_Splice_Site_p.K101_splice|GALT_uc003zvh.2_Splice_Site_p.K181_splice|GALT_uc011lop.1_Splice_Site_p.K181_splice|IL11RA_uc003zvi.2_5'Flank	49	GBM-06-0213-TP	p.K229_splice	G	ACTCAGGAAGGTGGGAGAGAG	NM_000155	NP_000146	34648454	P07902	GALT_HUMAN	0	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)	7	754	+	A	A	all_epithelial(49;0.102)		Splice_Site							
GAN	0	broad.mit.edu	GRCh37	16	81390535	81390535	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-12-1597-01	TCGA-12-1597-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000568107.2:c.779A>G	p.Glu260Gly	p.E260G	ENST00000568107	NM_022041.3	260	gAg/gGg	0			1			G	E/G	uc002fgo.2	protein_coding	YES	CCDS10935.1			779/1794									ovary(2)	2	c.(778-780)GAG>GGG			PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF167	gigaxonin				ENSP00000476795		11-Apr									COSM3402504	11-Apr	.		ENST00000568107	Transcript	1		cell death	cytoplasm|neurofilament	protein binding	ENSG00000261609	g.chr16:81390535A>G	4137			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=GAN_HUMAN&rb=237&re=314&var=E260G	NA	getma.org/?cm=var&var=hg19,16,81390535,A,G&fts=all	E260G	--	--	1																																			1	1		benign(0.013)	p.E260G	NM_022041	NP_071324		deleterious(0.01)	1	GAN_HUMAN	GAN	HGNC	Q9H2C0	GAN_HUMAN					4	927	+		Colorectal(91;0.153)	UPI000000DAB6	260					SNV	GAN,missense_variant,p.Glu260Gly,ENST00000568107,NM_022041.3;	uc002fgo.2	c.779A>G	941/15244	3	3			c.779A>G						16	SNP	c.(778-780)GAG>GGG	53	53			ovary(2)	2	Broad	gigaxonin			81390535		0.493	ENSG00000261609	6119	g.chr16:81390535A>G	cell death	cytoplasm|neurofilament	protein binding	GBM(106;1239 1507 7582 9741 33976)			GBM(106;1239 1507 7582 9741 33976)			-37.42977	KEEP	0	4	-1	126	107	0	4	-1	6.598881	126	107	0.017857	1	0	0	0	0	1	0	0	0	--	--		0	G				124	GBM-12-1597-TP	p.E260G	A	CAGCAAGGGGAGGCGATGCTG	NM_022041	NP_071324	81390535	Q9H2C0	GAN_HUMAN	0			4	927	+	G	G		Colorectal(91;0.153)	Missense_Mutation	260						
GANAB	0	broad.mit.edu	GRCh37	11	62396739	62396739	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356638.3:c.1863C>T	p.Ala621=	p.A621=	ENST00000356638	NM_198334.2	621	gcC/gcT	0			1			A	A	uc001nub.2	protein_coding		CCDS8026.1			1863/2835									ovary(3)|central_nervous_system(1)|skin(1)	5	c.(1861-1863)GCC>GCT			Pfam_domain:PF01055,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF51,Superfamily_domains:SSF51445	neutral alpha-glucosidase AB isoform 2				ENSP00000349053		16/24	3.29E-05			0.000116				0.000182	rs192967712,COSM3397993,COSM3397992	16/24	.		ENST00000356638	Transcript			post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	ENSG00000089597	g.chr11:62396739G>A	4138			LOW								--	--	1																																		GANAB_uc001ntz.2_5'Flank|GANAB_uc001nua.2_Silent_p.A643A|GANAB_uc001nuc.2_Silent_p.A524A|GANAB_uc010rma.1_Silent_p.A529A|GANAB_uc010rmb.1_Silent_p.A507A	0,1,1				p.A621A	NM_198334	NP_938148			0,1,1	GANAB_HUMAN	GANAB	HGNC	Q14697	GANAB_HUMAN			F5H6X6_HUMAN		16	1896	-			UPI000013D62E	621					SNV	GANAB,synonymous_variant,p.=,ENST00000346178,NM_198335.3;GANAB,synonymous_variant,p.=,ENST00000356638,NM_198334.2;GANAB,synonymous_variant,p.=,ENST00000540933,NM_001278194.1;GANAB,synonymous_variant,p.=,ENST00000534779,NM_001278193.1,NM_001278192.1;GANAB,downstream_gene_variant,,ENST00000525994,;GANAB,downstream_gene_variant,,ENST00000534422,;GANAB,3_prime_UTR_variant,,ENST00000532402,;GANAB,downstream_gene_variant,,ENST00000526732,;GANAB,downstream_gene_variant,,ENST00000534613,;GANAB,upstream_gene_variant,,ENST00000528503,;GANAB,upstream_gene_variant,,ENST00000531563,;	uc001nub.2	c.1863C>T	1880/3608	2	2			c.1863C>T						11	SNP	c.(1861-1863)GCC>GCT	24	24			ovary(3)|central_nervous_system(1)|skin(1)	5	Broad	neutral alpha-glucosidase AB isoform 2			62396739		0.527	ENSG00000089597	6120	g.chr11:62396739G>A	post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	Melanoma(23;1005 1074 15747 18937)			Melanoma(23;1005 1074 15747 18937)			83.169931	KEEP	18	21	-1	61	101	18	21	-1	98.410497	61	101	0.194286	1	0	0	0	0	0	0	1	0	--	--		0	A			GANAB_uc001ntz.2_5'Flank|GANAB_uc001nua.2_Silent_p.A643A|GANAB_uc001nuc.2_Silent_p.A524A|GANAB_uc010rma.1_Silent_p.A529A|GANAB_uc010rmb.1_Silent_p.A507A	220	GBM-28-5213-TP	p.A621A	G	GGTCCCACTCGGCAGTGTTGT	NM_198334	NP_938148	62396739	Q14697	GANAB_HUMAN	0			16	1896	-	A	A			Silent	621						
GAPDH	0	broad.mit.edu	GRCh37	12	6647098	6647098	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-26-5135-01	TCGA-26-5135-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000229239.5:c.874T>G	p.Ser292Ala	p.S292A	ENST00000229239	NM_002046.4	292	Tcc/Gcc	0			1			G	S/A	uc001qop.1	protein_coding	YES	CCDS8549.1			874/1008										0	c.(874-876)TCC>GCC			Gene3D:3.30.360.10,Pfam_domain:PF02800,PIRSF_domain:PIRSF000149,hmmpanther:PTHR10836,Superfamily_domains:SSF55347,TIGRFAM_domain:TIGR01534	glyceraldehyde-3-phosphate dehydrogenase	NADH(DB00157)			ENSP00000229239		9-Aug									COSM2157086	9-Aug	.		ENST00000229239	Transcript			gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding	ENSG00000111640	g.chr12:6647098T>G	4141			MODERATE		3.035	medium	getma.org/?cm=msa&ty=f&p=G3P_HUMAN&rb=157&re=314&var=S292A	getma.org/pdb.php?prot=G3P_HUMAN&from=157&to=314&var=S292A	getma.org/?cm=var&var=hg19,12,6647098,T,G&fts=all	S292A	--	--	1																																OREG0021628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	GAPDH_uc009zep.1_Missense_Mutation_p.S250A|GAPDH_uc001qoq.1_Missense_Mutation_p.S217A|GAPDH_uc001qor.1_Missense_Mutation_p.S251A|GAPDH_uc001qos.1_Missense_Mutation_p.S292A|GAPDH_uc001qot.1_Missense_Mutation_p.S292A|GAPDH_uc001qou.1_Missense_Mutation_p.S251A|GAPDH_uc001qov.1_Missense_Mutation_p.S250A|GAPDH_uc001qow.1_Missense_Mutation_p.S245A|GAPDH_uc001qox.1_Missense_Mutation_p.S118A	1	1		benign(0.44)	p.S292A	NM_002046	NP_002037		deleterious_low_confidence(0.02)	1	G3P_HUMAN	GAPDH	HGNC	P04406	G3P_HUMAN			Q5ZEY3_HUMAN,Q0QET7_HUMAN,K4EN11_HUMAN,G9BZK0_HUMAN,A4UCT1_HUMAN		8	976	+			UPI000013C8ED	292					SNV	GAPDH,missense_variant,p.Ser292Ala,ENST00000229239,NM_002046.4;GAPDH,missense_variant,p.Ser292Ala,ENST00000396861,;GAPDH,missense_variant,p.Ser250Ala,ENST00000396858,NM_001256799.1;GAPDH,missense_variant,p.Ser217Ala,ENST00000396856,;GAPDH,missense_variant,p.Ser292Ala,ENST00000396859,;IFFO1,downstream_gene_variant,,ENST00000436152,;IFFO1,downstream_gene_variant,,ENST00000465801,;IFFO1,downstream_gene_variant,,ENST00000336604,NM_080730.4;IFFO1,downstream_gene_variant,,ENST00000356896,NM_001039670.2,NM_001193457.1;IFFO1,downstream_gene_variant,,ENST00000396840,;RP5-940J5.9,non_coding_transcript_exon_variant,,ENST00000602946,;RP5-940J5.3,upstream_gene_variant,,ENST00000537921,;GAPDH,non_coding_transcript_exon_variant,,ENST00000466525,;GAPDH,non_coding_transcript_exon_variant,,ENST00000466588,;GAPDH,non_coding_transcript_exon_variant,,ENST00000474249,;IFFO1,downstream_gene_variant,,ENST00000488007,;IFFO1,downstream_gene_variant,,ENST00000471408,;IFFO1,downstream_gene_variant,,ENST00000487279,;IFFO1,downstream_gene_variant,,ENST00000472558,;IFFO1,downstream_gene_variant,,ENST00000396830,;GAPDH,downstream_gene_variant,,ENST00000492719,;GAPDH,downstream_gene_variant,,ENST00000496049,;	uc001qop.1	c.874T>G	1540/1875	3	3			c.874T>G						12	SNP	c.(874-876)TCC>GCC	7	7				0	Broad	glyceraldehyde-3-phosphate dehydrogenase		NADH(DB00157)	6647098		0.582	ENSG00000111640	6123	g.chr12:6647098T>G	gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding							121.684926	KEEP	15	30	-1	48	36	15	30	-1	123.912544	48	36	0.350877	1	0	0	0	0	1	0	0	0	--	--		0	G	OREG0021628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	GAPDH_uc009zep.1_Missense_Mutation_p.S250A|GAPDH_uc001qoq.1_Missense_Mutation_p.S217A|GAPDH_uc001qor.1_Missense_Mutation_p.S251A|GAPDH_uc001qos.1_Missense_Mutation_p.S292A|GAPDH_uc001qot.1_Missense_Mutation_p.S292A|GAPDH_uc001qou.1_Missense_Mutation_p.S251A|GAPDH_uc001qov.1_Missense_Mutation_p.S250A|GAPDH_uc001qow.1_Missense_Mutation_p.S245A|GAPDH_uc001qox.1_Missense_Mutation_p.S118A	184	GBM-26-5135-TP	p.S292A	T	CGACACCCACTCCTCCACCTT	NM_002046	NP_002037	6647098	P04406	G3P_HUMAN	0			8	976	+	G	G			Missense_Mutation	292						
GAPDHS	0	broad.mit.edu	GRCh37	19	36029512	36029512	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-15-0742-01	TCGA-15-0742-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222286.4:c.376C>T	p.Arg126Ter	p.R126*	ENST00000222286	NM_014364.4	126	Cga/Tga	0			1			T	R/*	uc002oaf.1	protein_coding	YES	CCDS12465.1			376/1227										0	c.(376-378)CGA>TGA			Gene3D:3.40.50.720,Pfam_domain:PF00044,PIRSF_domain:PIRSF000149,hmmpanther:PTHR10836,hmmpanther:PTHR10836:SF26,SMART_domains:SM00846,Superfamily_domains:SSF51735,TIGRFAM_domain:TIGR01534	glyceraldehyde-3-phosphate dehydrogenase,	NADH(DB00157)			ENSP00000222286		11-Apr									COSM3404133	11-Apr	.		ENST00000222286	Transcript			gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding	ENSG00000105679	g.chr19:36029512C>T	24864			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,19,36029512,C,T&fts=all	R126*	--	--	1																																			1	1			p.R126*	NM_014364	NP_055179			1	G3PT_HUMAN	GAPDHS	HGNC	O14556	G3PT_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		K7EP73_HUMAN		4	492	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		UPI000012AE83	126					SNV	GAPDHS,stop_gained,p.Arg126Ter,ENST00000222286,NM_014364.4;GAPDHS,stop_gained,p.Arg58Ter,ENST00000585510,;AD000090.2,downstream_gene_variant,,ENST00000588286,;AD000090.2,downstream_gene_variant,,ENST00000590717,;AD000090.2,downstream_gene_variant,,ENST00000589137,;AD000090.2,downstream_gene_variant,,ENST00000590125,;AD000090.2,downstream_gene_variant,,ENST00000444728,;GAPDHS,3_prime_UTR_variant,,ENST00000586334,;	uc002oaf.1	c.376C>T	492/1489	5	1			c.376C>T						19	SNP	c.(376-378)CGA>TGA	1	1				0	Broad	glyceraldehyde-3-phosphate dehydrogenase,		NADH(DB00157)	36029512		0.522	ENSG00000105679	6124	g.chr19:36029512C>T	gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding							62.529541	KEEP	11	11	-1	20	16	11	11	-1	62.654171	20	16	0.44186	1	0	0	0	0	0	1	0	0	--	--		0	T				153	GBM-15-0742-TP	p.R126*	C	CACCCACGGCCGATACAAGGG	NM_014364	NP_055179	36029512	O14556	G3PT_HUMAN	0	LUSC - Lung squamous cell carcinoma(66;0.0724)		4	492	+	T	T	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		Nonsense_Mutation	126						
GAPVD1	0	broad.mit.edu	GRCh37	9	128069702	128069702	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394104.2:c.1127C>A	p.Ala376Asp	p.A376D	ENST00000394104	NM_001282679.1	376	gCc/gAc	0			1			A	A/D	uc010mwx.2	protein_coding		CCDS65132.1			1127/4437									ovary(2)|central_nervous_system(1)|skin(1)	4	c.(1126-1128)GCC>GAC			hmmpanther:PTHR23101:SF55,hmmpanther:PTHR23101,Gene3D:1.10.506.10,Superfamily_domains:SSF48350	GTPase activating protein and VPS9 domains 1				ENSP00000377664		26-May									COSM3413332	26-May	.		ENST00000394104	Transcript			endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	ENSG00000165219	g.chr9:128069702C>A	23375			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=GAPD1_HUMAN&rb=354&re=553&var=A376D	NA	getma.org/?cm=var&var=hg19,9,128069702,C,A&fts=all	A376D	--	--	1																																		GAPVD1_uc004bpo.2_Missense_Mutation_p.A376D|GAPVD1_uc011lzs.1_Missense_Mutation_p.A376D|GAPVD1_uc004bpp.2_Missense_Mutation_p.A376D|GAPVD1_uc004bpq.2_Missense_Mutation_p.A376D|GAPVD1_uc004bpr.2_Missense_Mutation_p.A376D|GAPVD1_uc004bps.2_Missense_Mutation_p.A376D|GAPVD1_uc010mwy.1_Missense_Mutation_p.A235D	1			probably_damaging(0.998)	p.A376D	NM_015635	NP_056450		deleterious(0.01)	1	GAPD1_HUMAN	GAPVD1	HGNC	Q14C86	GAPD1_HUMAN			C9IZX9_HUMAN,C9IZ08_HUMAN		7	1453	+			UPI000165C132	376					SNV	GAPVD1,missense_variant,p.Ala376Asp,ENST00000470056,;GAPVD1,missense_variant,p.Ala376Asp,ENST00000394104,NM_001282679.1;GAPVD1,missense_variant,p.Ala376Asp,ENST00000265956,;GAPVD1,missense_variant,p.Ala376Asp,ENST00000297933,NM_001282680.1;GAPVD1,missense_variant,p.Ala376Asp,ENST00000495955,;GAPVD1,missense_variant,p.Ala376Asp,ENST00000394105,NM_015635.2;GAPVD1,missense_variant,p.Ala376Asp,ENST00000394083,;GAPVD1,missense_variant,p.Ala376Asp,ENST00000312123,NM_001282681.1;GAPVD1,missense_variant,p.Ala376Asp,ENST00000394084,;GAPVD1,missense_variant,p.Ala376Asp,ENST00000467750,;GAPVD1,missense_variant,p.Ala239Asp,ENST00000431329,;GAPVD1,missense_variant,p.Ala207Asp,ENST00000436712,;RNU6-1020P,upstream_gene_variant,,ENST00000363684,;GAPVD1,missense_variant,p.Ala376Asp,ENST00000497580,;	uc010mwx.2	c.1127C>A	1287/6861	2	2			c.1127C>A						9	SNP	c.(1126-1128)GCC>GAC	43	43			ovary(2)|central_nervous_system(1)|skin(1)	4	Broad	GTPase activating protein and VPS9 domains 1			128069702		0.408	ENSG00000165219	6126	g.chr9:128069702C>A	endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity							-4.622304	KEEP	2	1	0.333333333	30	33	2	1	0.333333333	6.327874	30	33	0.056604	1	0	0	0	0	1	0	0	0	--	--		0	A			GAPVD1_uc004bpo.2_Missense_Mutation_p.A376D|GAPVD1_uc011lzs.1_Missense_Mutation_p.A376D|GAPVD1_uc004bpp.2_Missense_Mutation_p.A376D|GAPVD1_uc004bpq.2_Missense_Mutation_p.A376D|GAPVD1_uc004bpr.2_Missense_Mutation_p.A376D|GAPVD1_uc004bps.2_Missense_Mutation_p.A376D|GAPVD1_uc010mwy.1_Missense_Mutation_p.A235D	229	GBM-32-1977-TP	p.A376D	C	AGCTGTGTTGCCGCTTTCCTT	NM_015635	NP_056450	128069702	Q14C86	GAPD1_HUMAN	0			7	1453	+	A	A			Missense_Mutation	376						
GAPVD1	26130		GRCh37	9	128092422	128092422	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000394105.2:c.2098G>A	p.Asp700Asn	p.D700N	ENST00000394105	NM_015635.2	700	Gac/Aac	0																																																																																																																																																																																																																																												
GAREM	0	broad.mit.edu	GRCh37	18	29890192	29890192	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0152-01	TCGA-06-0152-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269209.6:c.357C>T	p.Arg119=	p.R119=	ENST00000269209		119	cgC/cgT	0			1			A	R	uc002kxl.2	protein_coding	YES	CCDS56057.1			357/2631									ovary(1)|skin(1)	2	c.(355-357)CGC>CGT			Pfam_domain:PF12736,hmmpanther:PTHR14454,hmmpanther:PTHR14454:SF6	family with sequence similarity 59, member A				ENSP00000269209		6-Mar									COSM2149876	6-Mar	.		ENST00000269209	Transcript						ENSG00000141441	g.chr18:29890192G>A	26136			LOW								--	--	1																																		FAM59A_uc002kxk.1_Silent_p.R119R	1	1			p.R119R	NM_022751	NP_073588			1	GAREM_HUMAN	GAREM	HGNC	Q9H706	FA59A_HUMAN					3	413	-			UPI00005A72DA	119			CABIT.		SNV	GAREM,synonymous_variant,p.=,ENST00000399218,NM_001242409.1,NM_022751.2;GAREM,synonymous_variant,p.=,ENST00000269209,;GAREM,non_coding_transcript_exon_variant,,ENST00000578619,;	uc002kxl.2	c.357C>T	361/3006	2	2			c.357C>T						18	SNP	c.(355-357)CGC>CGT	43	43			ovary(1)|skin(1)	2	Broad	family with sequence similarity 59, member A			29890192		0.413	ENSG00000141441	5496	g.chr18:29890192G>A										286.953723	KEEP	60	60	-1	109	94	60	60	-1	291.174137	109	94	0.366667	1	0	0	0	0	0	0	1	0	--	--		0	A			FAM59A_uc002kxk.1_Silent_p.R119R	25	GBM-06-0152-TP	p.R119R	G	TGACGTACACGCGTTCAGGAA	NM_022751	NP_073588	29890192	Q9H706	FA59A_HUMAN	0			3	413	-	A	A			Silent	119			CABIT.			
GAS2L2	246176	broad.mit.edu	GRCh37	17	34074267	34074267	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254466.6:c.853C>T	p.Leu285=	p.L285=	ENST00000254466	NM_139285.3	285	Ctg/Ttg	0			1			A	L	uc002hjv.1	protein_coding	YES	CCDS11298.1			853/2643									ovary(1)|skin(1)	2	c.(853-855)CTG>TTG			hmmpanther:PTHR11915	growth arrest-specific 2 like 2				ENSP00000254466		6-May									COSM2149914	6-May	.		ENST00000254466	Transcript			cell cycle arrest	cytoplasm|cytoskeleton		ENSG00000132139	g.chr17:34074267G>A	24846			LOW								--	--	1																																			1	1			p.L285L	NM_139285	NP_644814			1	GA2L2_HUMAN	GAS2L2	HGNC	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)			5	881	-		Ovarian(249;0.17)	UPI0000061E50	285					SNV	GAS2L2,synonymous_variant,p.=,ENST00000254466,NM_139285.3;GAS2L2,synonymous_variant,p.=,ENST00000587565,;RASL10B,downstream_gene_variant,,ENST00000268864,NM_033315.3;	uc002hjv.1	c.853C>T	881/3014	1	1			c.853C>T						17	SNP	c.(853-855)CTG>TTG	54	54			ovary(1)|skin(1)	2	Broad	growth arrest-specific 2 like 2			34074267		0.597	ENSG00000132139	6134	g.chr17:34074267G>A	cell cycle arrest	cytoplasm|cytoskeleton								384.936357	KEEP	74	75	-1	139	118	74	75	-1	390.580353	139	118	0.360606	1	0	0	0	0	0	0	1	0	--	--		0	A				26	GBM-06-0154-TP	p.L285L	G	GGGGGCTTCAGGAAGCTGCCT	NM_139285	NP_644814	34074267	Q8NHY3	GA2L2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	5	881	-	A	A		Ovarian(249;0.17)	Silent	285						
GAS2L2	246176	broad.mit.edu	GRCh37	17	34073121	34073121	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2569-01	TCGA-06-2569-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254466.6:c.1395C>T	p.Ala465=	p.A465=	ENST00000254466	NM_139285.3	465	gcC/gcT	0			1			A	A	uc002hjv.1	protein_coding	YES	CCDS11298.1			1395/2643									ovary(1)|skin(1)	2	c.(1393-1395)GCC>GCT			hmmpanther:PTHR11915	growth arrest-specific 2 like 2				ENSP00000254466		6-Jun	4.31E-05		0.000261		0.000152	1.56E-05			rs782336958,COSM3181966	6-Jun	.		ENST00000254466	Transcript			cell cycle arrest	cytoplasm|cytoskeleton		ENSG00000132139	g.chr17:34073121G>A	24846			LOW								--	--	1																																			0,1	1			p.A465A	NM_139285	NP_644814			0,1	GA2L2_HUMAN	GAS2L2	HGNC	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)			6	1423	-		Ovarian(249;0.17)	UPI0000061E50	465					SNV	GAS2L2,synonymous_variant,p.=,ENST00000254466,NM_139285.3;GAS2L2,synonymous_variant,p.=,ENST00000587565,;RASL10B,downstream_gene_variant,,ENST00000268864,NM_033315.3;	uc002hjv.1	c.1395C>T	1423/3014	2	2			c.1395C>T						17	SNP	c.(1393-1395)GCC>GCT	41	41			ovary(1)|skin(1)	2	Broad	growth arrest-specific 2 like 2			34073121		0.622	ENSG00000132139	6134	g.chr17:34073121G>A	cell cycle arrest	cytoplasm|cytoskeleton								174.307371	KEEP	29	32	-1	38	63	29	32	-1	175.881807	38	63	0.387324	1	0	0	0	0	0	0	1	0	--	--		0	A				90	GBM-06-2569-TP	p.A465A	G	CCAGGCACTCGGCTGGGCCAA	NM_139285	NP_644814	34073121	Q8NHY3	GA2L2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	1423	-	A	A		Ovarian(249;0.17)	Silent	465						
GAS2L2	0	broad.mit.edu	GRCh37	17	34072485	34072485	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-3650-01	TCGA-12-3650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254466.6:c.2031G>A	p.Pro677=	p.P677=	ENST00000254466	NM_139285.3	677	ccG/ccA	0			1			T	P	uc002hjv.1	protein_coding	YES	CCDS11298.1			2031/2643									ovary(1)|skin(1)	2	c.(2029-2031)CCG>CCA			hmmpanther:PTHR11915	growth arrest-specific 2 like 2				ENSP00000254466		6-Jun	2.47E-05					3.10E-05			rs782602530,COSM3402784	6-Jun	.		ENST00000254466	Transcript			cell cycle arrest	cytoplasm|cytoskeleton		ENSG00000132139	g.chr17:34072485C>T	24846			LOW								--	--	1																																			0,1	1			p.P677P	NM_139285	NP_644814			0,1	GA2L2_HUMAN	GAS2L2	HGNC	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)			6	2059	-		Ovarian(249;0.17)	UPI0000061E50	677					SNV	GAS2L2,synonymous_variant,p.=,ENST00000254466,NM_139285.3;GAS2L2,synonymous_variant,p.=,ENST00000587565,;RASL10B,downstream_gene_variant,,ENST00000268864,NM_033315.3;	uc002hjv.1	c.2031G>A	2059/3014	2	2			c.2031G>A						17	SNP	c.(2029-2031)CCG>CCA	47	47			ovary(1)|skin(1)	2	Broad	growth arrest-specific 2 like 2			34072485		0.612	ENSG00000132139	6134	g.chr17:34072485C>T	cell cycle arrest	cytoplasm|cytoskeleton								353.298283	KEEP	54	72	-1	82	72	54	72	-1	353.582766	82	72	0.46371	1	0	0	0	0	0	0	1	0	--	--		0	T				126	GBM-12-3650-TP	p.P677P	C	GGGAGCCAGTCGGGGCTGCCT	NM_139285	NP_644814	34072485	Q8NHY3	GA2L2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2059	-	T	T		Ovarian(249;0.17)	Silent	677						
GAS2L2	0	broad.mit.edu	GRCh37	17	34072639	34072639	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-14-0871-01	TCGA-14-0871-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254466.6:c.1877G>C	p.Arg626Thr	p.R626T	ENST00000254466	NM_139285.3	626	aGg/aCg	0			1			G	R/T	uc002hjv.1	protein_coding	YES	CCDS11298.1			1877/2643									ovary(1)|skin(1)	2	c.(1876-1878)AGG>ACG			hmmpanther:PTHR11915	growth arrest-specific 2 like 2				ENSP00000254466		6-Jun									COSM3402785	6-Jun	.		ENST00000254466	Transcript			cell cycle arrest	cytoplasm|cytoskeleton		ENSG00000132139	g.chr17:34072639C>G	24846			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=GA2L2_HUMAN&rb=567&re=803&var=R626T	NA	getma.org/?cm=var&var=hg19,17,34072639,C,G&fts=all	R626T	--	--	1																																			1	1		benign(0.039)	p.R626T	NM_139285	NP_644814		tolerated(0.26)	1	GA2L2_HUMAN	GAS2L2	HGNC	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)			6	1905	-		Ovarian(249;0.17)	UPI0000061E50	626					SNV	GAS2L2,missense_variant,p.Arg626Thr,ENST00000254466,NM_139285.3;GAS2L2,missense_variant,p.Arg610Thr,ENST00000587565,;RASL10B,downstream_gene_variant,,ENST00000268864,NM_033315.3;	uc002hjv.1	c.1877G>C	1905/3014	3	3			c.1877G>C						17	SNP	c.(1876-1878)AGG>ACG	61	61			ovary(1)|skin(1)	2	Broad	growth arrest-specific 2 like 2			34072639		0.582	ENSG00000132139	6134	g.chr17:34072639C>G	cell cycle arrest	cytoplasm|cytoskeleton								712.816688	KEEP	108	127	-1	11	7	108	127	-1	753.032293	11	7	0.925926	1	0	0	0	0	1	0	0	0	--	--		0	G				141	GBM-14-0871-TP	p.R626T	C	GACCCCAGACCTTGTGCCCTG	NM_139285	NP_644814	34072639	Q8NHY3	GA2L2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	1905	-	G	G		Ovarian(249;0.17)	Missense_Mutation	626						
GAS2L2	0	broad.mit.edu	GRCh37	17	34072169	34072169	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2619-01	TCGA-19-2619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254466.6:c.2347C>T	p.Arg783Trp	p.R783W	ENST00000254466	NM_139285.3	783	Cgg/Tgg	0			1			A	R/W	uc002hjv.1	protein_coding	YES	CCDS11298.1			2347/2643									ovary(1)|skin(1)	2	c.(2347-2349)CGG>TGG			hmmpanther:PTHR11915,Low_complexity_(Seg):seg	growth arrest-specific 2 like 2				ENSP00000254466		6-Jun	3.29E-05		0.000259					6.16E-05	rs782543839,COSM2156175	6-Jun	.		ENST00000254466	Transcript			cell cycle arrest	cytoplasm|cytoskeleton		ENSG00000132139	g.chr17:34072169G>A	24846			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=GA2L2_HUMAN&rb=567&re=803&var=R783W	NA	getma.org/?cm=var&var=hg19,17,34072169,G,A&fts=all	R783W	--	--	1																																			0,1	1		probably_damaging(1)	p.R783W	NM_139285	NP_644814		deleterious(0)	0,1	GA2L2_HUMAN	GAS2L2	HGNC	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)			6	2375	-		Ovarian(249;0.17)	UPI0000061E50	783					SNV	GAS2L2,missense_variant,p.Arg783Trp,ENST00000254466,NM_139285.3;GAS2L2,missense_variant,p.Arg767Trp,ENST00000587565,;RASL10B,downstream_gene_variant,,ENST00000268864,NM_033315.3;	uc002hjv.1	c.2347C>T	2375/3014	1	1			c.2347C>T						17	SNP	c.(2347-2349)CGG>TGG	57	57			ovary(1)|skin(1)	2	Broad	growth arrest-specific 2 like 2			34072169		0.612	ENSG00000132139	6134	g.chr17:34072169G>A	cell cycle arrest	cytoplasm|cytoskeleton								310.384262	KEEP	57	49	-1	95	74	57	49	-1	312.579095	95	74	0.398374	1	0	0	0	0	1	0	0	0	--	--		0	A				161	GBM-19-2619-TP	p.R783W	G	TGGTCTCTCCGGGGCCGAATC	NM_139285	NP_644814	34072169	Q8NHY3	GA2L2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2375	-	A	A		Ovarian(249;0.17)	Missense_Mutation	783						
GAS2L2	0	broad.mit.edu	GRCh37	17	34074081	34074081	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01	TCGA-19-2631-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254466.6:c.1039C>T	p.Arg347Trp	p.R347W	ENST00000254466	NM_139285.3	347	Cgg/Tgg	0	A:0.0002		1			A	R/W	uc002hjv.1	protein_coding	YES	CCDS11298.1			1039/2643									ovary(1)|skin(1)	2	c.(1039-1041)CGG>TGG			hmmpanther:PTHR11915,Low_complexity_(Seg):seg	growth arrest-specific 2 like 2			A:0	ENSP00000254466		6-May	4.94E-05	0.000106				7.91E-05			rs369252885,COSM2156420	6-May	.		ENST00000254466	Transcript			cell cycle arrest	cytoplasm|cytoskeleton		ENSG00000132139	g.chr17:34074081G>A	24846			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=GA2L2_HUMAN&rb=277&re=476&var=R347W	NA	getma.org/?cm=var&var=hg19,17,34074081,G,A&fts=all	R347W	--	--	1																																			0,1	1		benign(0.002)	p.R347W	NM_139285	NP_644814		tolerated(0.28)	0,1	GA2L2_HUMAN	GAS2L2	HGNC	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)			5	1067	-		Ovarian(249;0.17)	UPI0000061E50	347					SNV	GAS2L2,missense_variant,p.Arg347Trp,ENST00000254466,NM_139285.3;GAS2L2,missense_variant,p.Arg331Trp,ENST00000587565,;RASL10B,downstream_gene_variant,,ENST00000268864,NM_033315.3;	uc002hjv.1	c.1039C>T	1067/3014	2	2			c.1039C>T						17	SNP	c.(1039-1041)CGG>TGG	24	24			ovary(1)|skin(1)	2	Broad	growth arrest-specific 2 like 2			34074081		0.612	ENSG00000132139	6134	g.chr17:34074081G>A	cell cycle arrest	cytoplasm|cytoskeleton								103.429373	KEEP	18	25	-1	27	44	18	25	-1	105.083618	27	44	0.365385	1	0	0	0	0	1	0	0	0	--	--		0	A				167	GBM-19-2631-TP	p.R347W	G	CCTGCTCCCCGTTCCCTGCGG	NM_139285	NP_644814	34074081	Q8NHY3	GA2L2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	5	1067	-	A	A		Ovarian(249;0.17)	Missense_Mutation	347						
GAS2L2	246176		GRCh37	17	34073181	34073181	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000254466.6:c.1335C>T	p.Ala445=	p.A445=	ENST00000254466	NM_139285.3	445	gcC/gcT	0																																																																																																																																																																																																																																												
GAS7	8522	broad.mit.edu	GRCh37	17	9822945	9822945	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G			TCGA-06-5408-01	TCGA-06-5408-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000432992.2:c.1216T>C		p.X406_splice	ENST00000432992	NM_201433.1	406	Ttg/Ctg	0			1			G	L	uc002gmg.1	protein_coding	YES	CCDS11152.1			1216/1431	T		MLL		AML*				lung(1)|pancreas(1)	2	c.(1216-1218)TTG>CTG			Low_complexity_(Seg):seg,Superfamily_domains:SSF103657,hmmpanther:PTHR23065:SF10,hmmpanther:PTHR23065	growth arrest-specific 7 isoform c				ENSP00000407552		14-Dec	1.65E-05		8.64E-05			1.50E-05			rs778591317,COSM3403427,COSM3403428,COSM3403429	14-Dec	.		ENST00000432992	Transcript			cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	ENSG00000007237	g.chr17:9822945A>G	4169			LOW								--	--	1																																		GAS7_uc010vvc.1_Silent_p.L220L|GAS7_uc002gmh.1_Silent_p.L266L|GAS7_uc010vvd.1_Silent_p.L358L|GAS7_uc002gmi.2_Silent_p.L342L|GAS7_uc002gmj.1_Silent_p.L346L|GAS7_uc010coh.1_Silent_p.L346L	0,1,1,1	1			p.L406L	NM_201433	NP_958839			0,1,1,1	GAS7_HUMAN	GAS7	HGNC	O60861	GAS7_HUMAN			J3QS26_HUMAN,J3QLH8_HUMAN,J3KTK6_HUMAN,J3KTB1_HUMAN,J3KS47_HUMAN,B7Z1Q2_HUMAN		12	1377	-			UPI00001B4B17	406			Potential.		SNV	GAS7,splice_region_variant,p.=,ENST00000323816,;GAS7,splice_region_variant,p.=,ENST00000437099,NM_001130831.1;GAS7,splice_region_variant,p.=,ENST00000432992,NM_201433.1;GAS7,splice_region_variant,p.=,ENST00000585266,NM_201432.1;GAS7,splice_region_variant,p.=,ENST00000580865,NM_003644.2;GAS7,splice_region_variant,p.=,ENST00000542249,;GAS7,splice_region_variant,p.=,ENST00000579158,;GAS7,intron_variant,,ENST00000540214,;GAS7,intron_variant,,ENST00000396115,;GAS7,intron_variant,,ENST00000583882,;GAS7,splice_region_variant,,ENST00000581112,;GAS7,splice_region_variant,,ENST00000578456,;	uc002gmg.1	c.1216T>C	1377/4970	3	3			c.1216T>C	T		MLL		AML*	17	SNP	c.(1216-1218)TTG>CTG	57	57			lung(1)|pancreas(1)	2	Broad	growth arrest-specific 7 isoform c			9822945		0.567	ENSG00000007237	6137	g.chr17:9822945A>G	cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			523			523	97.619639	KEEP	18	18	-1	34	30	18	18	-1	99.35578	34	30	0.348837	1	0	0	0	0	0	0	1	0	--	--		0	G			GAS7_uc010vvc.1_Silent_p.L220L|GAS7_uc002gmh.1_Silent_p.L266L|GAS7_uc010vvd.1_Silent_p.L358L|GAS7_uc002gmi.2_Silent_p.L342L|GAS7_uc002gmj.1_Silent_p.L346L|GAS7_uc010coh.1_Silent_p.L346L	92	GBM-06-5408-TP	p.L406L	A	CCGCTTACCAATGTGGTGGTC	NM_201433	NP_958839	9822945	O60861	GAS7_HUMAN	0			12	1377	-	G	G			Silent	406			Potential.			
GATA1	2623	broad.mit.edu	GRCh37	X	48652346	48652346	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0173-01	TCGA-06-0173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376670.3:c.1017G>A	p.Gly339=	p.G339=	ENST00000376670	NM_002049.3	339	ggG/ggA	0			1			A	G	uc004dkq.3	protein_coding	YES	CCDS14305.1			1017/1242	Mis|F				megakaryoblastic leukemia of Downs Syndrome				haematopoietic_and_lymphoid_tissue(246)|lung(2)	248	c.(1015-1017)GGG>GGA			hmmpanther:PTHR10071:SF150,hmmpanther:PTHR10071,PIRSF_domain:PIRSF003027	GATA binding protein 1				ENSP00000365858		6-Jun									COSM3406421	6-Jun	.		ENST00000376670	Transcript	1		basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000102145	g.chrX:48652346G>A	4170			LOW								--	--	1																																			1	1			p.G339G	NM_002049	NP_002040			1	GATA1_HUMAN	GATA1	HGNC	P15976	GATA1_HUMAN					6	1108	+			UPI000012B0FA	339					SNV	GATA1,synonymous_variant,p.=,ENST00000376670,NM_002049.3;GATA1,intron_variant,,ENST00000376665,;	uc004dkq.3	c.1017G>A	1128/1497	2	2			c.1017G>A	Mis|F				megakaryoblastic leukemia of Downs Syndrome	23	SNP	c.(1015-1017)GGG>GGA	24	24			haematopoietic_and_lymphoid_tissue(246)|lung(2)	248	Broad	GATA binding protein 1			48652346		0.627	ENSG00000102145	6140	g.chrX:48652346G>A	basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	Pancreas(9;429 505 11287 29617)		37	Pancreas(9;429 505 11287 29617)		37	12.295049	KEEP	3	4	-1	9	5	3	4	-1	12.723646	9	5	0.307692	1	0	0	0	0	0	0	1	0	--	--		0	A				36	GBM-06-0173-TP	p.G339G	G	TGGTGGCTGGGGGCAGCGGTA	NM_002049	NP_002040	48652346	P15976	GATA1_HUMAN	0			6	1108	+	A	A			Silent	339						
GATA1	0	broad.mit.edu	GRCh37	X	48650419	48650419	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-0781-01	TCGA-14-0781-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376670.3:c.389C>A	p.Thr130Asn	p.T130N	ENST00000376670	NM_002049.3	130	aCc/aAc	0			1			A	T/N	uc004dkq.3	protein_coding	YES	CCDS14305.1			389/1242	Mis|F				megakaryoblastic leukemia of Downs Syndrome			p.?(2)|p.V74_C199del(1)	haematopoietic_and_lymphoid_tissue(246)|lung(2)	248	c.(388-390)ACC>AAC			hmmpanther:PTHR10071:SF150,hmmpanther:PTHR10071,PIRSF_domain:PIRSF003027	GATA binding protein 1				ENSP00000365858		6-Mar									COSM3406420	6-Mar	.		ENST00000376670	Transcript	1		basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000102145	g.chrX:48650419C>A	4170			MODERATE		-0.69	neutral	getma.org/?cm=msa&ty=f&p=GATA1_HUMAN&rb=1&re=189&var=T130N	NA	getma.org/?cm=var&var=hg19,X,48650419,C,A&fts=all	T130N	--	--	1																																			1	1		benign(0)	p.T130N	NM_002049	NP_002040		tolerated(0.18)	1	GATA1_HUMAN	GATA1	HGNC	P15976	GATA1_HUMAN					3	480	+			UPI000012B0FA	130					SNV	GATA1,missense_variant,p.Thr130Asn,ENST00000376670,NM_002049.3;GATA1,missense_variant,p.Thr130Asn,ENST00000376665,;	uc004dkq.3	c.389C>A	500/1497	2	2			c.389C>A	Mis|F				megakaryoblastic leukemia of Downs Syndrome	23	SNP	c.(388-390)ACC>AAC	24	24		p.?(2)|p.V74_C199del(1)	haematopoietic_and_lymphoid_tissue(246)|lung(2)	248	Broad	GATA binding protein 1			48650419		0.602	ENSG00000102145	6140	g.chrX:48650419C>A	basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	Pancreas(9;429 505 11287 29617)		37	Pancreas(9;429 505 11287 29617)		37	19.714104	KEEP	6	5	0.454545455	23	33	6	5	0.454545455	26.25526	23	33	0.163934	1	0	0	0	0	1	0	0	0	--	--		0	A				133	GBM-14-0781-TP	p.T130N	C	AAAGGCAGCACCAGCTTCCTG	NM_002049	NP_002040	48650419	P15976	GATA1_HUMAN	0			3	480	+	A	A			Missense_Mutation	130						
GATA4	2626	broad.mit.edu	GRCh37	8	11607632	11607632	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0157-01	TCGA-06-0157-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335135.4:c.796C>T	p.Arg266Ter	p.R266*	ENST00000335135	NM_002052.3	266	Cga/Tga	0			1			T	R/*	uc003wuc.2	protein_coding	YES	CCDS5983.1			796/1329									central_nervous_system(1)	1	c.(796-798)CGA>TGA			Superfamily_domains:SSF57716,SMART_domains:SM00401,PIRSF_domain:PIRSF003028,Gene3D:3.30.50.10,hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF154,PROSITE_profiles:PS50114	GATA binding protein 4				ENSP00000334458		7-Apr									COSM2150078	7-Apr	.		ENST00000335135	Transcript	1		atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	ENSG00000136574	g.chr8:11607632C>T	4173			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,8,11607632,C,T&fts=all	R266*	--	--	1																																		GATA4_uc003wub.1_Nonsense_Mutation_p.R60*|GATA4_uc011kxc.1_Nonsense_Mutation_p.R267*	1	1			p.R266*	NM_002052	NP_002043			1	GATA4_HUMAN	GATA4	HGNC	P43694	GATA4_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)	R4GND5_HUMAN,E9PRI5_HUMAN,E9PKS4_HUMAN,B3KUF4_HUMAN,B2ZBW1_HUMAN		4	1350	+	all_epithelial(15;0.0839)		UPI00001B3DC4	266					SNV	GATA4,stop_gained,p.Arg266Ter,ENST00000335135,NM_002052.3;GATA4,stop_gained,p.Arg60Ter,ENST00000528712,;GATA4,stop_gained,p.Arg267Ter,ENST00000532059,;GATA4,stop_gained,p.Arg60Ter,ENST00000526716,;	uc003wuc.2	c.796C>T	1354/3414	5	1			c.796C>T						8	SNP	c.(796-798)CGA>TGA	13	13			central_nervous_system(1)	1	Broad	GATA binding protein 4			11607632		0.632	ENSG00000136574	6143	g.chr8:11607632C>T	atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding							77.087841	KEEP	17	12	-1	23	23	17	12	-1	77.693969	23	23	0.393443	1	0	0	0	0	0	1	0	0	--	--		0	T			GATA4_uc003wub.1_Nonsense_Mutation_p.R60*|GATA4_uc011kxc.1_Nonsense_Mutation_p.R267*	28	GBM-06-0157-TP	p.R266*	C	CGCCTCCCGCCGAGTGGGCCT	NM_002052	NP_002043	11607632	P43694	GATA4_HUMAN	0	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)	4	1350	+	T	T	all_epithelial(15;0.0839)		Nonsense_Mutation	266						
GATA6	0	broad.mit.edu	GRCh37	18	19762767	19762767	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269216.3:c.1478G>A	p.Arg493Gln	p.R493Q	ENST00000269216	NM_005257.4	493	cGa/cAa	0			1			A	R/Q	uc002ktt.1	protein_coding	YES	CCDS11872.1			1478/1788									central_nervous_system(3)	3	c.(1477-1479)CGA>CAA			hmmpanther:PTHR10071:SF23,hmmpanther:PTHR10071,Gene3D:3.30.50.10,Superfamily_domains:SSF57716	GATA binding protein 6				ENSP00000269216		7-May									COSM986961	7-May	.		ENST00000269216	Transcript	1		blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	ENSG00000141448	g.chr18:19762767G>A	4174			MODERATE		3.025	medium	getma.org/?cm=msa&ty=f&p=GATA6_HUMAN&rb=479&re=510&var=R493Q	NA	getma.org/?cm=var&var=hg19,18,19762767,G,A&fts=all	R493Q	--	--	1																																		GATA6_uc002ktu.1_Missense_Mutation_p.R493Q	1	1		probably_damaging(0.995)	p.R493Q	NM_005257	NP_005248		deleterious(0)	1	GATA6_HUMAN	GATA6	HGNC	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		Q05CA6_HUMAN		5	1743	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		UPI0000201AC8	493					SNV	GATA6,missense_variant,p.Arg493Gln,ENST00000269216,NM_005257.4;GATA6,missense_variant,p.Arg493Gln,ENST00000581694,;RNU6-702P,upstream_gene_variant,,ENST00000364982,;	uc002ktt.1	c.1478G>A	1755/3770	1	1			c.1478G>A						18	SNP	c.(1477-1479)CGA>CAA	55	55			central_nervous_system(3)	3	Broad	GATA binding protein 6			19762767		0.313	ENSG00000141448	6145	g.chr18:19762767G>A	blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)			Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)			66.372794	KEEP	16	13	-1	40	26	16	13	-1	69.229539	40	26	0.3	1	0	0	0	0	1	0	0	0	--	--		0	A			GATA6_uc002ktu.1_Missense_Mutation_p.R493Q	265	GBM-76-4925-TP	p.R493Q	G	ACCAGGAAACGAAAACCTAAG	NM_005257	NP_005248	19762767	Q92908	GATA6_HUMAN	0	STAD - Stomach adenocarcinoma(5;0.106)		5	1743	+	A	A	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		Missense_Mutation	493						
GATM	0	broad.mit.edu	GRCh37	15	45658329	45658329	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-12-0618-01	TCGA-12-0618-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396659.3:c.893A>G	p.Asp298Gly	p.D298G	ENST00000396659	NM_001482.2	298	gAt/gGt	0			1			C	D/G	uc001zvc.2	protein_coding	YES	CCDS10122.1			893/1272										0	c.(892-894)GAT>GGT			hmmpanther:PTHR10488,Gene3D:3.75.10.10,Pfam_domain:PF02274,Superfamily_domains:SSF55909	L-arginine:glycine amidinotransferase precursor	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)			ENSP00000379895		9-Jun									COSM3401767	9-Jun	.		ENST00000396659	Transcript	1		creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding	ENSG00000171766	g.chr15:45658329T>C	4175			MODERATE		2.33	medium	getma.org/?cm=msa&ty=f&p=GATM_HUMAN&rb=246&re=414&var=D298G	getma.org/pdb.php?prot=GATM_HUMAN&from=246&to=414&var=D298G	getma.org/?cm=var&var=hg19,15,45658329,T,C&fts=all	D298G	--	--	1																																		GATM_uc001zvb.2_Missense_Mutation_p.D169G|GATM_uc010uev.1_Missense_Mutation_p.D351G	1	1		benign(0.422)	p.D298G	NM_001482	NP_001473		tolerated(0.28)	1	GATM_HUMAN	GATM	HGNC	P50440	GATM_HUMAN		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	H0YN43_HUMAN,H0YLC6_HUMAN,H0YKW9_HUMAN		6	1222	-		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	UPI0000111EFD	298					SNV	GATM,missense_variant,p.Asp298Gly,ENST00000396659,NM_001482.2;GATM,missense_variant,p.Asp298Gly,ENST00000558336,;GATM,downstream_gene_variant,,ENST00000561148,;GATM,downstream_gene_variant,,ENST00000559885,;GATM,downstream_gene_variant,,ENST00000558163,;GATM,downstream_gene_variant,,ENST00000558537,;GATM,non_coding_transcript_exon_variant,,ENST00000558362,;GATM,non_coding_transcript_exon_variant,,ENST00000558916,;GATM,upstream_gene_variant,,ENST00000561376,;GATM,downstream_gene_variant,,ENST00000558118,;	uc001zvc.2	c.893A>G	1233/2597	4	4			c.893A>G						15	SNP	c.(892-894)GAT>GGT	48	48				0	Broad	L-arginine:glycine amidinotransferase precursor		Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	45658329		0.428	ENSG00000171766	6150	g.chr15:45658329T>C	creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding							-7.670153	KEEP	3	1	-1	47	37	3	1	-1	10.070334	47	37	0.04878	1	0	0	0	0	1	0	0	0	--	--		0	C			GATM_uc001zvb.2_Missense_Mutation_p.D169G|GATM_uc010uev.1_Missense_Mutation_p.D351G	119	GBM-12-0618-TP	p.D298G	T	GGGATTGGGATCTTTAAAGGA	NM_001482	NP_001473	45658329	P50440	GATM_HUMAN	0		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	6	1222	-	C	C		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	Missense_Mutation	298						
GATM	0	broad.mit.edu	GRCh37	15	45668979	45668979	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-32-1970-01	TCGA-32-1970-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396659.3:c.108C>A	p.Phe36Leu	p.F36L	ENST00000396659	NM_001482.2	36	ttC/ttA	0			1			T	F/L	uc001zvc.2	protein_coding	YES	CCDS10122.1			108/1272										0	c.(106-108)TTC>TTA			hmmpanther:PTHR10488	L-arginine:glycine amidinotransferase precursor	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)			ENSP00000379895		9-Feb									COSM3401768	9-Feb	.		ENST00000396659	Transcript	1		creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding	ENSG00000171766	g.chr15:45668979G>T	4175			MODERATE		0.41	neutral	getma.org/?cm=msa&ty=f&p=GATM_HUMAN&rb=1&re=200&var=F36L	NA	getma.org/?cm=var&var=hg19,15,45668979,G,T&fts=all	F36L	--	--	1																																		GATM_uc001zvb.2_5'UTR|GATM_uc010uev.1_Missense_Mutation_p.F89L	1	1		benign(0.002)	p.F36L	NM_001482	NP_001473		tolerated_low_confidence(0.33)	1	GATM_HUMAN	GATM	HGNC	P50440	GATM_HUMAN		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	H0YN43_HUMAN,H0YLC6_HUMAN,H0YKW9_HUMAN		2	437	-		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	UPI0000111EFD	36					SNV	GATM,missense_variant,p.Phe36Leu,ENST00000396659,NM_001482.2;GATM,missense_variant,p.Phe36Leu,ENST00000558336,;GATM,5_prime_UTR_variant,,ENST00000561148,;GATM,5_prime_UTR_variant,,ENST00000559885,;GATM,5_prime_UTR_variant,,ENST00000558537,;GATM,intron_variant,,ENST00000558163,;GATM,non_coding_transcript_exon_variant,,ENST00000560538,;GATM,downstream_gene_variant,,ENST00000458245,;GATM,downstream_gene_variant,,ENST00000527933,;GATM,missense_variant,p.Phe36Leu,ENST00000558118,;GATM,non_coding_transcript_exon_variant,,ENST00000558362,;	uc001zvc.2	c.108C>A	448/2597	2	2			c.108C>A						15	SNP	c.(106-108)TTC>TTA	24	24				0	Broad	L-arginine:glycine amidinotransferase precursor		Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	45668979		0.512	ENSG00000171766	6150	g.chr15:45668979G>T	creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding							89.214683	KEEP	25	15	0.625	16	24	25	15	0.625	89.228536	16	24	0.484375	1	0	0	0	0	1	0	0	0	--	--		0	T			GATM_uc001zvb.2_5'UTR|GATM_uc010uev.1_Missense_Mutation_p.F89L	228	GBM-32-1970-TP	p.F36L	G	GGGTGCTCTGGAAAGTTCGCT	NM_001482	NP_001473	45668979	P50440	GATM_HUMAN	0		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	2	437	-	T	T		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	Missense_Mutation	36						
GATS	0	broad.mit.edu	GRCh37	7	99821643	99821643	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A			TCGA-76-4928-01	TCGA-76-4928-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328453.5:n.278C>T		*93*	ENST00000328453				0			1			A		uc003uua.3	processed_transcript															0	c.(271-273)AAC>AAT				GATS, stromal antigen 3 opposite strand						7-Mar	2.48E-05	0.000102				3.00E-05			rs747142061,COSM3268087	7-Mar	.		ENST00000328453	Transcript						ENSG00000239521	g.chr7:99821643G>A	29954			MODIFIER								--	--	1																																		GATS_uc003uty.3_RNA|GATS_uc003utz.3_RNA|GATS_uc010lgt.2_RNA|GATS_uc011kjl.1_5'Flank|GATS_uc010lgu.2_RNA	0,1				p.N91N	NM_178831	NP_849153			0,1		GATS	Clone_based_vega_gene	Q8NAP1	GATS_HUMAN					3	522	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)			91					SNV	GATS,synonymous_variant,p.=,ENST00000436886,NM_178831.6;PVRIG,downstream_gene_variant,,ENST00000317271,NM_024070.3;AC005071.1,upstream_gene_variant,,ENST00000410550,;GATS,non_coding_transcript_exon_variant,,ENST00000543273,;GATS,non_coding_transcript_exon_variant,,ENST00000414739,;GATS,non_coding_transcript_exon_variant,,ENST00000435519,;GATS,non_coding_transcript_exon_variant,,ENST00000328453,;GATS,non_coding_transcript_exon_variant,,ENST00000454084,;GATS,non_coding_transcript_exon_variant,,ENST00000538588,;GATS,upstream_gene_variant,,ENST00000440058,;PVRIG,downstream_gene_variant,,ENST00000471803,;GATS,upstream_gene_variant,,ENST00000437485,;STAG3,downstream_gene_variant,,ENST00000451963,;GATS,non_coding_transcript_exon_variant,,ENST00000292369,;	uc003uua.3	c.273C>T	278/1052	2	2			c.273C>T						7	SNP	c.(271-273)AAC>AAT	21	21				0	Broad	GATS, stromal antigen 3 opposite strand			99821643		0.622	ENSG00000239521	6151	g.chr7:99821643G>A						9			9	17.192071	KEEP	12	7	-1	56	67	12	7	-1	29.01674	56	67	0.14433	1	0	0	0	0	0	0	1	0	--	--		0	A			GATS_uc003uty.3_RNA|GATS_uc003utz.3_RNA|GATS_uc010lgt.2_RNA|GATS_uc011kjl.1_5'Flank|GATS_uc010lgu.2_RNA	268	GBM-76-4928-TP	p.N91N	G	CGGACACCACGTTCAGGGCCA	NM_178831	NP_849153	99821643	Q8NAP1	GATS_HUMAN	0			3	522	-	A	A	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		Silent	91						
GBP1	2633	broad.mit.edu	GRCh37	1	89521850	89521850	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140785577		TCGA-06-0169-01	TCGA-06-0169-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370473.4:c.1217G>A	p.Arg406His	p.R406H	ENST00000370473	NM_002053.2	406	cGt/cAt	0	T:0	T:0	1	T:0		T	R/H	uc001dmx.2	protein_coding	YES	CCDS718.1			1217/1779									ovary(1)|skin(1)	2	c.(1216-1218)CGT>CAT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10751:SF21,hmmpanther:PTHR10751,Gene3D:1f5nA01,Pfam_domain:PF02841,Superfamily_domains:0037397	guanylate binding protein 1,		T:0.001	T:0.0001	ENSP00000359504	T:0	11-Aug	0.000272		0.0025	0.000116		4.50E-05			rs140785577,COSM2150288	11-Aug	common_variant		ENST00000370473	Transcript		T:0.0002	interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	ENSG00000117228	g.chr1:89521850C>T	4182			MODERATE		0.79	neutral	getma.org/?cm=msa&ty=f&p=GBP1_HUMAN&rb=284&re=580&var=R406H	getma.org/pdb.php?prot=GBP1_HUMAN&from=284&to=580&var=R406H	getma.org/?cm=var&var=hg19,1,89521850,C,T&fts=all	R406H	--	--	1																																			0,1	1		benign(0.006)	p.R406H	NM_002053	NP_002044	T:0	tolerated(0.42)	0,1	GBP1_HUMAN	GBP1	HGNC	P32455	GBP1_HUMAN		all cancers(265;0.0156)|Epithelial(280;0.0291)			8	1437	-		Lung NSC(277;0.123)	UPI000013C9DF	406					SNV	GBP1,missense_variant,p.Arg406His,ENST00000370473,NM_002053.2;GBP1,non_coding_transcript_exon_variant,,ENST00000495131,;GBP1,upstream_gene_variant,,ENST00000484970,;GBP1,downstream_gene_variant,,ENST00000459831,;GBP1,upstream_gene_variant,,ENST00000468959,;GBP1,upstream_gene_variant,,ENST00000479889,;GBP1,downstream_gene_variant,,ENST00000493139,;	uc001dmx.2	c.1217G>A	1437/3035	2	2			c.1217G>A						1	SNP	c.(1216-1218)CGT>CAT	24	24			ovary(1)|skin(1)	2	Broad	guanylate binding protein 1,			89521850		0.408	ENSG00000117228	6160	g.chr1:89521850C>T	interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity							217.532632	KEEP	48	47	-1	137	163	48	47	-1	239.121572	137	163	0.24	1	0	0	0	0	1	0	0	0	--	--		0	T				34	GBM-06-0169-TP	p.R406H	C	AGCTGAGCAACGATCTGATGA	NM_002053	NP_002044	89521850	P32455	GBP1_HUMAN	0		all cancers(265;0.0156)|Epithelial(280;0.0291)	8	1437	-	T	T		Lung NSC(277;0.123)	Missense_Mutation	406						
GBP1	2633	broad.mit.edu	GRCh37	1	89525904	89525904	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2564-01	TCGA-06-2564-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370473.4:c.294C>T	p.Thr98=	p.T98=	ENST00000370473	NM_002053.2	98	acC/acT	0	A:0.0007	A:0	1	A:0		A	T	uc001dmx.2	protein_coding	YES	CCDS718.1			294/1779									ovary(1)|skin(1)	2	c.(292-294)ACC>ACT			PROSITE_profiles:PS51715,hmmpanther:PTHR10751:SF21,hmmpanther:PTHR10751,Gene3D:3.40.50.300,Pfam_domain:PF02263,Superfamily_domains:SSF52540	guanylate binding protein 1,		A:0.005	A:0	ENSP00000359504	A:0	11-Mar	0.000395			0.00532	0.000151	1.50E-05			rs376417084,COSM912962	11-Mar	common_variant		ENST00000370473	Transcript		A:0.0010	interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	ENSG00000117228	g.chr1:89525904G>A	4182			LOW								--	--	1																																			0,1	1			p.T98T	NM_002053	NP_002044	A:0		0,1	GBP1_HUMAN	GBP1	HGNC	P32455	GBP1_HUMAN		all cancers(265;0.0156)|Epithelial(280;0.0291)			3	514	-		Lung NSC(277;0.123)	UPI000013C9DF	98			GTP.		SNV	GBP1,synonymous_variant,p.=,ENST00000370473,NM_002053.2;GBP1,non_coding_transcript_exon_variant,,ENST00000493139,;GBP1,upstream_gene_variant,,ENST00000484970,;GBP1,upstream_gene_variant,,ENST00000495131,;GBP1,upstream_gene_variant,,ENST00000459831,;GBP1,downstream_gene_variant,,ENST00000469194,;GBP1,upstream_gene_variant,,ENST00000468959,;GBP1,upstream_gene_variant,,ENST00000479889,;	uc001dmx.2	c.294C>T	514/3035	2	2			c.294C>T						1	SNP	c.(292-294)ACC>ACT	46	46			ovary(1)|skin(1)	2	Broad	guanylate binding protein 1,			89525904		0.507	ENSG00000117228	6160	g.chr1:89525904G>A	interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity							369.90113	KEEP	59	63	-1	94	79	59	63	-1	371.136544	94	79	0.426415	1	0	0	0	0	0	0	1	0	--	--		0	A				87	GBM-06-2564-TP	p.T98T	G	CCAGACCCTCGGTGTCCAGCA	NM_002053	NP_002044	89525904	P32455	GBP1_HUMAN	0		all cancers(265;0.0156)|Epithelial(280;0.0291)	3	514	-	A	A		Lung NSC(277;0.123)	Silent	98			GTP.			
GBP2	0	broad.mit.edu	GRCh37	1	89575480	89575482	+	inframe_deletion	In_Frame_Del	DEL	CTC	CTC	-			TCGA-14-4157-01	TCGA-14-4157-01	CTC	CTC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370466.3:c.1537_1539delGAG	p.Glu513del	p.E513del	ENST00000370466	NM_004120.4	513	GAG/-	0			1			-	E/-	uc001dmz.1	protein_coding	YES	CCDS719.1			1537-1539/1776									ovary(1)	1	c.(1537-1539)GAGdel			Superfamily_domains:0037397,Gene3D:1f5nA01,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF02841,hmmpanther:PTHR10751,hmmpanther:PTHR10751:SF39,Low_complexity_(Seg):seg	guanylate binding protein 2,				ENSP00000359497		11-Oct										11-Oct	.		ENST00000370466	Transcript			interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	ENSG00000162645	g.chr1:89575480_89575482delCTC	4183			MODERATE								--	--	1																																		GBP2_uc001dmy.1_RNA		1			p.E513del	NM_004120	NP_004111				GBP2_HUMAN	GBP2	HGNC	P32456	GBP2_HUMAN		all cancers(265;0.0151)|Epithelial(280;0.0284)	Q8TCE5_HUMAN		10	1808_1810	-		Lung NSC(277;0.0908)	UPI000013E19F	513					deletion	GBP2,inframe_deletion,p.Glu513del,ENST00000370466,NM_004120.4;GBP2,non_coding_transcript_exon_variant,,ENST00000493802,;GBP2,downstream_gene_variant,,ENST00000463660,;GBP2,inframe_deletion,p.Glu513del,ENST00000464839,;	uc001dmz.1	c.1537_1539delGAG	1806-1808/2220	5	5			c.1537_1539delGAG						1	DEL	c.(1537-1539)GAGdel	51	51			ovary(1)	1	Broad	guanylate binding protein 2,			89575482		0.404	ENSG00000162645	6161	g.chr1:89575480_89575482delCTC	interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity																				0.43	1	1	0	1	0	0	0	0	0	--	--		0	-			GBP2_uc001dmy.1_RNA	152	GBM-14-4157-TP	p.E513del	CTC	GTTCCATCATCTCCTCATTCTTC	NM_004120	NP_004111	89575480	P32456	GBP2_HUMAN	0		all cancers(265;0.0151)|Epithelial(280;0.0284)	10	1808_1810	-	-	-		Lung NSC(277;0.0908)	In_Frame_Del	513						
GBP3	2635	broad.mit.edu	GRCh37	1	89481028	89481028	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0214-01	TCGA-06-0214-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370481.4:c.260A>G	p.Lys87Arg	p.K87R	ENST00000370481	NM_018284.2	87	aAa/aGa	0			1			C	K/R	uc001dmt.2	protein_coding	YES	CCDS717.2			260/1788									ovary(1)|pancreas(1)	2	c.(259-261)AAA>AGA			Gene3D:3.40.50.300,Pfam_domain:PF02263,PROSITE_profiles:PS51715,hmmpanther:PTHR10751,hmmpanther:PTHR10751:SF31,Superfamily_domains:SSF52540	guanylate binding protein 3				ENSP00000359512		11-Mar									COSM3401070	11-Mar	.		ENST00000370481	Transcript				integral to membrane	GTP binding|GTPase activity	ENSG00000117226	g.chr1:89481028T>C	4184			MODERATE		0.72	neutral	getma.org/?cm=msa&ty=f&p=GBP3_HUMAN&rb=18&re=280&var=K87R	getma.org/pdb.php?prot=GBP3_HUMAN&from=18&to=280&var=K87R	getma.org/?cm=var&var=hg19,1,89481028,T,C&fts=all	K87R	--	--	1																																		GBP3_uc010oss.1_Missense_Mutation_p.K8R|GBP3_uc001dmu.2_5'UTR|GBP3_uc001dmv.2_RNA	1	1		benign(0.009)	p.K87R	NM_018284	NP_060754		tolerated(0.36)	1	GBP3_HUMAN	GBP3	HGNC	Q9H0R5	GBP3_HUMAN		all cancers(265;0.0103)|Epithelial(280;0.0293)	F6X827_HUMAN,H3BPH2_HUMAN,F6SPX6_HUMAN		3	465	-		Lung NSC(277;0.123)	UPI0000204D81	87					SNV	GBP3,missense_variant,p.Lys87Arg,ENST00000370481,NM_018284.2;GBP3,missense_variant,p.Lys8Arg,ENST00000564665,;GBP3,upstream_gene_variant,,ENST00000461384,;GBP3,upstream_gene_variant,,ENST00000445969,;Y_RNA,downstream_gene_variant,,ENST00000365515,;GBP3,non_coding_transcript_exon_variant,,ENST00000475853,;GBP3,missense_variant,p.Lys87Arg,ENST00000489444,;GBP3,missense_variant,p.Lys87Arg,ENST00000235878,;GBP3,3_prime_UTR_variant,,ENST00000493594,;GBP3,3_prime_UTR_variant,,ENST00000568006,;GBP3,non_coding_transcript_exon_variant,,ENST00000370482,;GBP3,downstream_gene_variant,,ENST00000564037,;	uc001dmt.2	c.260A>G	481/3067	3	3			c.260A>G						1	SNP	c.(259-261)AAA>AGA	4	4			ovary(1)|pancreas(1)	2	Broad	guanylate binding protein 3			89481028		0.483	ENSG00000117226	6162	g.chr1:89481028T>C		integral to membrane	GTP binding|GTPase activity							37.667912	KEEP	17	13	-1	145	120	17	13	-1	78.695804	145	120	0.100775	1	0	0	0	0	1	0	0	0	--	--		0	C			GBP3_uc010oss.1_Missense_Mutation_p.K8R|GBP3_uc001dmu.2_5'UTR|GBP3_uc001dmv.2_RNA	50	GBM-06-0214-TP	p.K87R	T	TTCTGGCTTTTTGGGGTGAGG	NM_018284	NP_060754	89481028	Q9H0R5	GBP3_HUMAN	0		all cancers(265;0.0103)|Epithelial(280;0.0293)	3	465	-	C	C		Lung NSC(277;0.123)	Missense_Mutation	87						
GBP4	115361	broad.mit.edu	GRCh37	1	89655829	89655829	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2567-01	TCGA-06-2567-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355754.6:c.1089G>A	p.Thr363=	p.T363=	ENST00000355754	NM_052941.4	363	acG/acA	0			1			T	T	uc001dnb.2	protein_coding	YES	CCDS721.1			1089/1923										0	c.(1087-1089)ACG>ACA			Superfamily_domains:0037397,Gene3D:1f5nA01,Pfam_domain:PF02841,hmmpanther:PTHR10751,hmmpanther:PTHR10751:SF17	guanylate binding protein 4				ENSP00000359490		11-Jul									COSM2153090	11-Jul	.		ENST00000355754	Transcript				cytoplasm	GTP binding|GTPase activity	ENSG00000162654	g.chr1:89655829C>T	20480			LOW								--	--	1																																			1	1			p.T363T	NM_052941	NP_443173			1	GBP4_HUMAN	GBP4	HGNC	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	B4E2F1_HUMAN		7	1205	-			UPI000013E1A4	363					SNV	GBP4,synonymous_variant,p.=,ENST00000355754,NM_052941.4;GBP4,upstream_gene_variant,,ENST00000471938,;GBP4,upstream_gene_variant,,ENST00000481397,;	uc001dnb.2	c.1089G>A	1187/6127	1	1			c.1089G>A						1	SNP	c.(1087-1089)ACG>ACA	7	7				0	Broad	guanylate binding protein 4			89655829		0.577	ENSG00000162654	6163	g.chr1:89655829C>T		cytoplasm	GTP binding|GTPase activity							95.761591	KEEP	22	15	-1	35	27	22	15	-1	96.367372	35	27	0.407407	1	0	0	0	0	0	0	1	0	--	--		0	T				89	GBM-06-2567-TP	p.T363T	C	GCTCCTGGAGCGTGTCTGTGG	NM_052941	NP_443173	89655829	Q96PP9	GBP4_HUMAN	0		all cancers(265;0.00723)|Epithelial(280;0.0291)	7	1205	-	T	T			Silent	363						
GBP4	0	broad.mit.edu	GRCh37	1	89650937	89650937	+	stop_lost	Nonstop_Mutation	SNP	T	T	A			TCGA-19-2623-01	TCGA-19-2623-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355754.6:c.1923A>T	p.Ter641TyrextTer7	p.*641Yext*7	ENST00000355754	NM_052941.4	641	taA/taT	0			1			A	*/Y	uc001dnb.2	protein_coding	YES	CCDS721.1			1923/1923										0	c.(1921-1923)TAA>TAT				guanylate binding protein 4				ENSP00000359490		11-Nov									COSM3401072	11-Nov	.		ENST00000355754	Transcript				cytoplasm	GTP binding|GTPase activity	ENSG00000162654	g.chr1:89650937T>A	20480			HIGH								--	--	1																																			1	1			p.*641Y	NM_052941	NP_443173			1	GBP4_HUMAN	GBP4	HGNC	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	B4E2F1_HUMAN		11	2039	-			UPI000013E1A4	641					SNV	GBP4,stop_lost,p.Ter641TyrextTer7,ENST00000355754,NM_052941.4;GBP4,non_coding_transcript_exon_variant,,ENST00000471938,;GBP4,non_coding_transcript_exon_variant,,ENST00000481397,;	uc001dnb.2	c.1923A>T	2021/6127	5	2			c.1923A>T						1	SNP	c.(1921-1923)TAA>TAT	32	32				0	Broad	guanylate binding protein 4			89650937		0.343	ENSG00000162654	6163	g.chr1:89650937T>A		cytoplasm	GTP binding|GTPase activity							-3.204156	KEEP	8	4	-1	69	78	8	4	-1	24.096326	69	78	0.07483	1	0	0	0	0	0	0	0	0	--	--		0	A				163	GBM-19-2623-TP	p.*641Y	T	ATTCAGGCTCTTAAATACGTG	NM_052941	NP_443173	89650937	Q96PP9	GBP4_HUMAN	0		all cancers(265;0.00723)|Epithelial(280;0.0291)	11	2039	-	A	A			Nonstop_Mutation	641						
GBP5	115362	broad.mit.edu	GRCh37	1	89729595	89729595	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01	TCGA-06-0878-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343435.5:c.1186C>T	p.Arg396Trp	p.R396W	ENST00000343435	NM_001134486.2	396	Cgg/Tgg	0			1			A	R/W	uc001dnc.2	protein_coding		CCDS722.1			1186/1761									ovary(1)	1	c.(1186-1188)CGG>TGG			Superfamily_domains:0037397,Gene3D:1f5nA01,Pfam_domain:PF02841,hmmpanther:PTHR10751,hmmpanther:PTHR10751:SF40	guanylate-binding protein 5				ENSP00000359488		11-Aug	8.24E-06							6.06E-05	rs753752118,COSM1667693	11-Aug	.		ENST00000370459	Transcript				plasma membrane	GTP binding|GTPase activity	ENSG00000154451	g.chr1:89729595G>A	19895			MODERATE		1.585	low	getma.org/?cm=msa&ty=f&p=GBP5_HUMAN&rb=282&re=574&var=R396W	getma.org/pdb.php?prot=GBP5_HUMAN&from=282&to=574&var=R396W	getma.org/?cm=var&var=hg19,1,89729595,G,A&fts=all	R396W	--	--	1																																		GBP5_uc001dnd.2_Missense_Mutation_p.R396W|GBP5_uc001dne.1_Missense_Mutation_p.R396W	0,1			possibly_damaging(0.773)	p.R396W	NM_052942	NP_443174		deleterious(0)	0,1	GBP5_HUMAN	GBP5	HGNC	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	E7ETN8_HUMAN		9	1723	-			UPI000004B6D7	396					SNV	GBP5,missense_variant,p.Arg396Trp,ENST00000443807,;GBP5,missense_variant,p.Arg396Trp,ENST00000343435,NM_001134486.2,NM_052942.3;GBP5,missense_variant,p.Arg396Trp,ENST00000370459,;RP4-620F22.2,intron_variant,,ENST00000437128,;GBP5,intron_variant,,ENST00000490568,;GBP5,upstream_gene_variant,,ENST00000471171,;GBP5,non_coding_transcript_exon_variant,,ENST00000481145,;	uc001dnc.2	c.1186C>T	1314/2011	1	1			c.1186C>T						1	SNP	c.(1186-1188)CGG>TGG	56	56			ovary(1)	1	Broad	guanylate-binding protein 5			89729595		0.378	ENSG00000154451	6164	g.chr1:89729595G>A		plasma membrane	GTP binding|GTPase activity							349.263201	KEEP	82	55	-1	119	135	82	55	-1	355.779522	119	135	0.355114	1	0	0	0	0	1	0	0	0	--	--		0	A			GBP5_uc001dnd.2_Missense_Mutation_p.R396W|GBP5_uc001dne.1_Missense_Mutation_p.R396W	74	GBM-06-0878-TP	p.R396W	G	TCCAGGTTCCGTTTACAAATG	NM_052942	NP_443174	89729595	Q96PP8	GBP5_HUMAN	0		all cancers(265;0.00784)|Epithelial(280;0.0286)	9	1723	-	A	A			Missense_Mutation	396						
GBP5	0	broad.mit.edu	GRCh37	1	89732739	89732739	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-14-2554-01	TCGA-14-2554-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370459.3:c.526T>A	p.Leu176Ile	p.L176I	ENST00000370459		176	Tta/Ata	0			1			T	L/I	uc001dnc.2	protein_coding		CCDS722.1			526/1761									ovary(1)	1	c.(526-528)TTA>ATA			Gene3D:3.40.50.300,Pfam_domain:PF02263,PROSITE_profiles:PS51715,hmmpanther:PTHR10751,hmmpanther:PTHR10751:SF40,Superfamily_domains:SSF52540	guanylate-binding protein 5				ENSP00000359488		11-May									COSM3401073	11-May	.		ENST00000370459	Transcript				plasma membrane	GTP binding|GTPase activity	ENSG00000154451	g.chr1:89732739A>T	19895			MODERATE		1.88	low	getma.org/?cm=msa&ty=f&p=GBP5_HUMAN&rb=18&re=280&var=L176I	getma.org/pdb.php?prot=GBP5_HUMAN&from=18&to=280&var=L176I	getma.org/?cm=var&var=hg19,1,89732739,A,T&fts=all	L176I	--	--	1																																		GBP5_uc001dnd.2_Missense_Mutation_p.L176I|GBP5_uc001dne.1_Missense_Mutation_p.L176I	1			possibly_damaging(0.904)	p.L176I	NM_052942	NP_443174		deleterious(0)	1	GBP5_HUMAN	GBP5	HGNC	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	E7ETN8_HUMAN		6	1063	-			UPI000004B6D7	176					SNV	GBP5,missense_variant,p.Leu176Ile,ENST00000443807,;GBP5,missense_variant,p.Leu176Ile,ENST00000343435,NM_001134486.2,NM_052942.3;GBP5,missense_variant,p.Leu176Ile,ENST00000370459,;RP4-620F22.2,intron_variant,,ENST00000437128,;GBP5,intron_variant,,ENST00000490568,;GBP5,upstream_gene_variant,,ENST00000471171,;GBP5,upstream_gene_variant,,ENST00000481145,;	uc001dnc.2	c.526T>A	654/2011	1	1			c.526T>A						1	SNP	c.(526-528)TTA>ATA	11	11			ovary(1)	1	Broad	guanylate-binding protein 5			89732739		0.493	ENSG00000154451	6164	g.chr1:89732739A>T		plasma membrane	GTP binding|GTPase activity							-36.304278	KEEP	9	2	-1	134	136	9	2	-1	20.501737	134	136	0.043307	1	0	0	0	0	1	0	0	0	--	--		0	T			GBP5_uc001dnd.2_Missense_Mutation_p.L176I|GBP5_uc001dne.1_Missense_Mutation_p.L176I	150	GBM-14-2554-TP	p.L176I	A	GTCCACACTAAGTCTGGGAAG	NM_052942	NP_443174	89732739	Q96PP8	GBP5_HUMAN	0		all cancers(265;0.00784)|Epithelial(280;0.0286)	6	1063	-	T	T			Missense_Mutation	176						
GBP7	388646	broad.mit.edu	GRCh37	1	89618461	89618461	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G			TCGA-06-0211-01	TCGA-06-0211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294671.2:c.319-1G>C		p.X107_splice	ENST00000294671	NM_207398.2	107		0			1			G		uc001dna.2	protein_coding	YES	CCDS720.1			319/1917									ovary(1)|skin(1)	2	c.e4-1				guanylate binding protein 4-like				ENSP00000294671											COSM3401071		.		ENST00000294671	Transcript				integral to membrane	GTP binding|GTPase activity	ENSG00000213512	g.chr1:89618461C>G	29606			HIGH	10-Mar							--	--	1																																		GBP2_uc001dmy.1_5'Flank	1	1			p.S107_splice	NM_207398	NP_997281			1	GBP7_HUMAN	GBP7	HGNC	Q8N8V2	GBP7_HUMAN		all cancers(265;0.00835)|Epithelial(280;0.0322)			4	458	-		Lung NSC(277;0.0908)	UPI000013E1A3						SNV	GBP7,splice_acceptor_variant,,ENST00000294671,NM_207398.2;GBP2,upstream_gene_variant,,ENST00000464839,;	uc001dna.2	c.319_splice	-/2454	5	3			c.319_splice						1	SNP	c.e4-1	16	16			ovary(1)|skin(1)	2	Broad	guanylate binding protein 4-like			89618461		0.294	ENSG00000213512	6166	g.chr1:89618461C>G		integral to membrane	GTP binding|GTPase activity							-3.419374	KEEP	1	4	-1	36	33	1	4	-1	6.706035	36	33	0.06	1	0	0	0	0	0	0	0	1	--	--		0	G			GBP2_uc001dmy.1_5'Flank	48	GBM-06-0211-TP	p.S107_splice	C	TAGGGTCACTCTAGTGTTAAA	NM_207398	NP_997281	89618461	Q8N8V2	GBP7_HUMAN	0		all cancers(265;0.00835)|Epithelial(280;0.0322)	4	458	-	G	G		Lung NSC(277;0.0908)	Splice_Site							
GBX1	2636	broad.mit.edu	GRCh37	7	150845924	150845924	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0747-01	TCGA-06-0747-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297537.4:c.844T>A	p.Cys282Ser	p.C282S	ENST00000297537	NM_001098834.1	282	Tgc/Agc	0			1			T	C/S	uc011kvg.1	protein_coding	YES	CCDS43682.1			844/1092										0	c.(844-846)TGC>AGC			PROSITE_profiles:PS50071,hmmpanther:PTHR24334:SF2,hmmpanther:PTHR24334,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689	gastrulation brain homeo box 1				ENSP00000297537		2-Feb									COSM2151785	2-Feb	.		ENST00000297537	Transcript				nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000164900	g.chr7:150845924A>T	4185			MODERATE		-0.83	neutral	getma.org/?cm=msa&ty=f&p=GBX1_HUMAN&rb=262&re=318&var=C282S	getma.org/pdb.php?prot=GBX1_HUMAN&from=262&to=318&var=C282S	getma.org/?cm=var&var=hg19,7,150845924,A,T&fts=all	C282S	--	--	1																																			1	1		benign(0.19)	p.C282S	NM_001098834	NP_001092304		deleterious(0.04)	1	GBX1_HUMAN	GBX1	HGNC	Q14549	GBX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)			2	1076	-			UPI0000E2658B	282			Homeobox.		SNV	GBX1,missense_variant,p.Cys282Ser,ENST00000297537,NM_001098834.1;AGAP3,downstream_gene_variant,,ENST00000397238,NM_031946.5;AGAP3,downstream_gene_variant,,ENST00000463381,NM_001281300.1;AGAP3,downstream_gene_variant,,ENST00000461065,;GBX1,downstream_gene_variant,,ENST00000475831,;AGAP3,downstream_gene_variant,,ENST00000473633,;	uc011kvg.1	c.844T>A	844/1092	1	1			c.844T>A						7	SNP	c.(844-846)TGC>AGC	9	9				0	Broad	gastrulation brain homeo box 1			150845924		0.557	ENSG00000164900	6167	g.chr7:150845924A>T		nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							172.525474	KEEP	29	32	-1	83	54	29	32	-1	178.458443	83	54	0.314433	1	0	0	0	0	1	0	0	0	--	--		0	T				68	GBM-06-0747-TP	p.C282S	A	TATTTCTTGCAATGAAATTCC	NM_001098834	NP_001092304	150845924	Q14549	GBX1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	1076	-	T	T			Missense_Mutation	282			Homeobox.			
GC	0	broad.mit.edu	GRCh37	4	72618353	72618353	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-12-3649-01	TCGA-12-3649-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273951.8:c.1277T>C	p.Leu426Pro	p.L426P	ENST00000273951	NM_001204306.1	426	cTa/cCa	0			1			G	L/P	uc003hge.2	protein_coding		CCDS3550.1			1277/1425									ovary(2)|upper_aerodigestive_tract(1)	3	c.(1276-1278)CTA>CCA			Low_complexity_(Seg):seg,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF11,Pfam_domain:PF09164,Gene3D:1.10.246.10,Superfamily_domains:SSF48552	vitamin D-binding protein precursor	Cholecalciferol(DB00169)			ENSP00000273951		13-Nov									COSM3409460,COSM3409459	13-Nov	.		ENST00000273951	Transcript	1		hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	ENSG00000145321	g.chr4:72618353A>G	4187			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=VTDB_HUMAN&rb=405&re=472&var=L426P	getma.org/pdb.php?prot=VTDB_HUMAN&from=405&to=472&var=L426P	getma.org/?cm=var&var=hg19,4,72618353,A,G&fts=all	L426P	--	--	1																																		GC_uc003hgd.2_Missense_Mutation_p.L304P|GC_uc010iie.2_Missense_Mutation_p.L426P|GC_uc010iif.2_Missense_Mutation_p.L445P	1,1			probably_damaging(1)	p.L426P	NM_000583	NP_000574		deleterious(0)	1,1	VTDB_HUMAN	GC	HGNC	P02774	VTDB_HUMAN	Lung(101;0.148)		D6RF20_HUMAN		11	1430	-		all_hematologic(202;0.107)	UPI000013D9E0	426			Albumin 3.		SNV	GC,missense_variant,p.Leu426Pro,ENST00000273951,NM_001204306.1,NM_000583.3;GC,missense_variant,p.Leu445Pro,ENST00000504199,NM_001204307.1;GC,missense_variant,p.Leu426Pro,ENST00000513476,;GC,non_coding_transcript_exon_variant,,ENST00000503472,;GC,intron_variant,,ENST00000503364,;GC,3_prime_UTR_variant,,ENST00000509740,;	uc003hge.2	c.1277T>C	1621/1972	4	4			c.1277T>C						4	SNP	c.(1276-1278)CTA>CCA	28	28			ovary(2)|upper_aerodigestive_tract(1)	3	Broad	vitamin D-binding protein precursor		Cholecalciferol(DB00169)	72618353		0.388	ENSG00000145321	6169	g.chr4:72618353A>G	hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity							111.364672	KEEP	29	23	-1	41	41	29	23	-1	114.651152	41	41	0.31068	1	0	0	0	0	1	0	0	0	--	--		0	G			GC_uc003hgd.2_Missense_Mutation_p.L304P|GC_uc010iie.2_Missense_Mutation_p.L426P|GC_uc010iif.2_Missense_Mutation_p.L445P	125	GBM-12-3649-TP	p.L426P	A	TTTTGCTTTTAGTCGCTCTGC	NM_000583	NP_000574	72618353	P02774	VTDB_HUMAN	0	Lung(101;0.148)		11	1430	-	G	G		all_hematologic(202;0.107)	Missense_Mutation	426			Albumin 3.			
GC	0	broad.mit.edu	GRCh37	4	72620754	72620754	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-41-3915-01	TCGA-41-3915-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273951.8:c.1105C>G	p.Leu369Val	p.L369V	ENST00000273951	NM_001204306.1	369	Cta/Gta	0			1			C	L/V	uc003hge.2	protein_coding		CCDS3550.1			1105/1425									ovary(2)|upper_aerodigestive_tract(1)	3	c.(1105-1107)CTA>GTA			PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF11,Gene3D:1.10.246.10,Pfam_domain:PF00273,SMART_domains:SM00103,Superfamily_domains:SSF48552,Prints_domain:PR00802	vitamin D-binding protein precursor	Cholecalciferol(DB00169)			ENSP00000273951		13-Sep	8.24E-06		8.68E-05						COSM3409462,COSM3409461	13-Sep	.		ENST00000273951	Transcript	1		hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	ENSG00000145321	g.chr4:72620754G>C	4187			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=VTDB_HUMAN&rb=216&re=385&var=L369V	getma.org/pdb.php?prot=VTDB_HUMAN&from=216&to=385&var=L369V	getma.org/?cm=var&var=hg19,4,72620754,G,C&fts=all	L369V	--	--	1																																		GC_uc003hgd.2_Missense_Mutation_p.L247V|GC_uc010iie.2_Missense_Mutation_p.L369V|GC_uc010iif.2_Missense_Mutation_p.L388V	1,1			benign(0.015)	p.L369V	NM_000583	NP_000574		tolerated(0.37)	1,1	VTDB_HUMAN	GC	HGNC	P02774	VTDB_HUMAN	Lung(101;0.148)		D6RF20_HUMAN		9	1258	-		all_hematologic(202;0.107)	UPI000013D9E0	369			Albumin 2.		SNV	GC,missense_variant,p.Leu369Val,ENST00000273951,NM_001204306.1,NM_000583.3;GC,missense_variant,p.Leu388Val,ENST00000504199,NM_001204307.1;GC,missense_variant,p.Leu369Val,ENST00000513476,;RNA5SP163,downstream_gene_variant,,ENST00000410304,;GC,non_coding_transcript_exon_variant,,ENST00000503472,;GC,upstream_gene_variant,,ENST00000503364,;GC,intron_variant,,ENST00000509740,;	uc003hge.2	c.1105C>G	1449/1972	3	3			c.1105C>G						4	SNP	c.(1105-1107)CTA>GTA	1	1			ovary(2)|upper_aerodigestive_tract(1)	3	Broad	vitamin D-binding protein precursor		Cholecalciferol(DB00169)	72620754		0.378	ENSG00000145321	6169	g.chr4:72620754G>C	hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity							160.583085	KEEP	22	33	-1	29	75	22	33	-1	163.064662	29	75	0.359155	1	0	0	0	0	1	0	0	0	--	--		0	C			GC_uc003hgd.2_Missense_Mutation_p.L247V|GC_uc010iie.2_Missense_Mutation_p.L369V|GC_uc010iif.2_Missense_Mutation_p.L388V	256	GBM-41-3915-TP	p.L369V	G	AGGCTTTTTAGGGTTGGCTCA	NM_000583	NP_000574	72620754	P02774	VTDB_HUMAN	0	Lung(101;0.148)		9	1258	-	C	C		all_hematologic(202;0.107)	Missense_Mutation	369			Albumin 2.			
GCA	0	broad.mit.edu	GRCh37	2	163204170	163204170	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-1970-01	TCGA-32-1970-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000437150.2:c.110G>C	p.Gly37Ala	p.G37A	ENST00000437150	NM_012198.3	37	gGa/gCa	0			1			C	G/A	uc002ucg.2	protein_coding	YES	CCDS2218.1			110/654										0	c.(109-111)GGA>GCA			hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF139	grancalcin, EF-hand calcium binding protein				ENSP00000394842		8-Feb									COSM3406974	8-Feb	.		ENST00000437150	Transcript			cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity	ENSG00000115271	g.chr2:163204170G>C	15990			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=GRAN_HUMAN&rb=1&re=200&var=G37A	getma.org/pdb.php?prot=GRAN_HUMAN&from=1&to=200&var=G37A	getma.org/?cm=var&var=hg19,2,163204170,G,C&fts=all	G37A	--	--	1																																		GCA_uc010zcu.1_Missense_Mutation_p.G18A	1	1		benign(0.007)	p.G37A	NM_012198	NP_036330		tolerated(0.13)	1	GRAN_HUMAN	GCA	HGNC	P28676	GRAN_HUMAN			H7BXD5_HUMAN,C9JIZ3_HUMAN		2	286	+			UPI000012BA7D	37					SNV	GCA,missense_variant,p.Gly37Ala,ENST00000437150,NM_012198.3;GCA,missense_variant,p.Gly18Ala,ENST00000233612,;GCA,missense_variant,p.Gly18Ala,ENST00000429691,;GCA,missense_variant,p.Gly63Ala,ENST00000446271,;GCA,missense_variant,p.Gly18Ala,ENST00000453113,;GCA,non_coding_transcript_exon_variant,,ENST00000473240,;GCA,non_coding_transcript_exon_variant,,ENST00000487445,;GCA,non_coding_transcript_exon_variant,,ENST00000481161,;GCA,non_coding_transcript_exon_variant,,ENST00000479199,;	uc002ucg.2	c.110G>C	271/1992	4	4			c.110G>C						2	SNP	c.(109-111)GGA>GCA	33	33				0	Broad	grancalcin, EF-hand calcium binding protein			163204170		0.463	ENSG00000115271	6170	g.chr2:163204170G>C	cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity							181.814741	KEEP	21	34	-1	31	37	21	34	-1	182.134166	31	37	0.443478	1	0	0	0	0	1	0	0	0	--	--		0	C			GCA_uc010zcu.1_Missense_Mutation_p.G18A	228	GBM-32-1970-TP	p.G37A	G	CTCCTCGATGGATACTCTGGG	NM_012198	NP_036330	163204170	P28676	GRAN_HUMAN	0			2	286	+	C	C			Missense_Mutation	37						
GCAT	0	broad.mit.edu	GRCh37	22	38211153	38211153	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6192-01	TCGA-76-6192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000248924.6:c.597G>A	p.Val199=	p.V199=	ENST00000248924	NM_014291.3	199	gtG/gtA	0			1			A	V	uc003atz.2	protein_coding		CCDS13957.1			597/1260										0	c.(595-597)GTG>GTA			Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF53383,TIGRFAM_domain:TIGR01822,Pfam_domain:PF00155,Gene3D:3.40.640.10,hmmpanther:PTHR13693:SF57,hmmpanther:PTHR13693	glycine C-acetyltransferase precursor	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)			ENSP00000248924		9-May									COSM3405663	9-May	.		ENST00000248924	Transcript			biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	ENSG00000100116	g.chr22:38211153G>A	4188			LOW								--	--	1																																		GCAT_uc003aua.1_Silent_p.V225V	1				p.V199V	NM_014291	NP_055106			1	KBL_HUMAN	GCAT	HGNC	O75600	KBL_HUMAN					5	617	+	Melanoma(58;0.045)		UPI000012DC57	199					SNV	GCAT,synonymous_variant,p.=,ENST00000323205,NM_001171690.1;GCAT,synonymous_variant,p.=,ENST00000248924,NM_014291.3;GCAT,downstream_gene_variant,,ENST00000451984,;GCAT,downstream_gene_variant,,ENST00000445195,;GCAT,downstream_gene_variant,,ENST00000415371,;GCAT,3_prime_UTR_variant,,ENST00000426858,;GCAT,downstream_gene_variant,,ENST00000478203,;	uc003atz.2	c.597G>A	653/1495	2	2			c.597G>A						22	SNP	c.(595-597)GTG>GTA	29	29				0	Broad	glycine C-acetyltransferase precursor		Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	38211153		0.577	ENSG00000100116	6171	g.chr22:38211153G>A	biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups							9.313858	KEEP	4	7	-1	19	22	4	7	-1	14.263941	19	22	0.146341	1	0	0	0	0	0	0	1	0	--	--		0	A			GCAT_uc003aua.1_Silent_p.V225V	275	GBM-76-6192-TP	p.V199V	G	TGCGCCTGGTGGCCACTGATG	NM_014291	NP_055106	38211153	O75600	KBL_HUMAN	0			5	617	+	A	A	Melanoma(58;0.045)		Silent	199						
GCC1	0	broad.mit.edu	GRCh37	7	127222596	127222596	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-5135-01	TCGA-26-5135-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321407.2:c.1800C>T	p.Asp600=	p.D600=	ENST00000321407	NM_024523.5	600	gaC/gaT	0			1			A	D	uc003vma.2	protein_coding	YES	CCDS5796.1			1800/2328									ovary(2)	2	c.(1798-1800)GAC>GAT			hmmpanther:PTHR23157,hmmpanther:PTHR23157:SF25	Golgi coiled-coil protein 1				ENSP00000318821		2-Feb									COSM2157039	2-Feb	.		ENST00000321407	Transcript				Golgi membrane|plasma membrane	protein binding	ENSG00000179562	g.chr7:127222596G>A	19095			LOW								--	--	1																																			1	1			p.D600D	NM_024523	NP_078799			1	GCC1_HUMAN	GCC1	HGNC	Q96CN9	GCC1_HUMAN			A4D0Z4_HUMAN		2	2218	-			UPI0000072BA8	600			Potential.		SNV	GCC1,synonymous_variant,p.=,ENST00000321407,NM_024523.5;GCC1,downstream_gene_variant,,ENST00000497650,;	uc003vma.2	c.1800C>T	2225/4149	1	1			c.1800C>T						7	SNP	c.(1798-1800)GAC>GAT	62	62			ovary(2)	2	Broad	Golgi coiled-coil protein 1			127222596		0.627	ENSG00000179562	6172	g.chr7:127222596G>A		Golgi membrane|plasma membrane	protein binding							122.290572	KEEP	29	27	-1	56	87	29	27	-1	131.373149	56	87	0.266304	1	0	0	0	0	0	0	1	0	--	--		0	A				184	GBM-26-5135-TP	p.D600D	G	CCAGTTCCAAGTCCTTCTCGG	NM_024523	NP_078799	127222596	Q96CN9	GCC1_HUMAN	0			2	2218	-	A	A			Silent	600			Potential.			
GCC1	0	broad.mit.edu	GRCh37	7	127222169	127222169	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321407.2:c.2227C>G	p.Leu743Val	p.L743V	ENST00000321407	NM_024523.5	743	Ctc/Gtc	0			1			C	L/V	uc003vma.2	protein_coding	YES	CCDS5796.1			2227/2328									ovary(2)	2	c.(2227-2229)CTC>GTC			PROSITE_profiles:PS50913,hmmpanther:PTHR23157,hmmpanther:PTHR23157:SF25,Pfam_domain:PF01465,Gene3D:1uptF00,SMART_domains:SM00755	Golgi coiled-coil protein 1				ENSP00000318821		2-Feb									COSM3411562	2-Feb	.		ENST00000321407	Transcript				Golgi membrane|plasma membrane	protein binding	ENSG00000179562	g.chr7:127222169G>C	19095			MODERATE		0.675	neutral	getma.org/?cm=msa&ty=f&p=GCC1_HUMAN&rb=716&re=761&var=L743V	NA	getma.org/?cm=var&var=hg19,7,127222169,G,C&fts=all	L743V	--	--	1																																			1	1		probably_damaging(0.983)	p.L743V	NM_024523	NP_078799		deleterious(0.01)	1	GCC1_HUMAN	GCC1	HGNC	Q96CN9	GCC1_HUMAN			A4D0Z4_HUMAN		2	2645	-			UPI0000072BA8	743			Potential.|GRIP.		SNV	GCC1,missense_variant,p.Leu743Val,ENST00000321407,NM_024523.5;GCC1,downstream_gene_variant,,ENST00000497650,;	uc003vma.2	c.2227C>G	2652/4149	4	4			c.2227C>G						7	SNP	c.(2227-2229)CTC>GTC	35	35			ovary(2)	2	Broad	Golgi coiled-coil protein 1			127222169		0.542	ENSG00000179562	6172	g.chr7:127222169G>C		Golgi membrane|plasma membrane	protein binding							31.771068	KEEP	13	16	-1	109	84	13	16	-1	56.945837	109	84	0.115607	1	0	0	0	0	1	0	0	0	--	--		0	C				240	GBM-32-2632-TP	p.L743V	G	ATGGCTGTGAGAGTCTGCTGG	NM_024523	NP_078799	127222169	Q96CN9	GCC1_HUMAN	0			2	2645	-	C	C			Missense_Mutation	743			Potential.|GRIP.			
GCC2	9648	broad.mit.edu	GRCh37	2	109092033	109092033	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-2565-01	TCGA-06-2565-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309863.6:c.2903A>G	p.Asn968Ser	p.N968S	ENST00000309863	NM_181453.3	968	aAt/aGt	0			1			G	N/S	uc002tec.2	protein_coding	YES	CCDS33268.1			2903/5055									ovary(1)	1	c.(2902-2904)AAT>AGT			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF23	GRIP and coiled-coil domain-containing 2				ENSP00000307939		23-Aug	8.25E-06							9.36E-05	rs753434393,COSM2153000	23-Aug	.		ENST00000309863	Transcript			Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	ENSG00000135968	g.chr2:109092033A>G	23218			MODERATE		0.68	neutral	getma.org/?cm=msa&ty=f&p=GCC2_HUMAN&rb=405&re=1312&var=N968S	NA	getma.org/?cm=var&var=hg19,2,109092033,A,G&fts=all	N968S	--	--	1																																		GCC2_uc002ted.2_Missense_Mutation_p.N867S	0,1	1		benign(0.003)	p.N968S	NM_181453	NP_852118		tolerated(0.19)	0,1	GCC2_HUMAN	GCC2	HGNC	Q8IWJ2	GCC2_HUMAN			B8ZZW2_HUMAN,B3KR21_HUMAN		8	3057	+			UPI000049DF0C	968			Potential.		SNV	GCC2,missense_variant,p.Asn968Ser,ENST00000309863,NM_181453.3;GCC2,downstream_gene_variant,,ENST00000409896,;GCC2,downstream_gene_variant,,ENST00000462897,;GCC2,downstream_gene_variant,,ENST00000492785,;GCC2,missense_variant,p.Asn6Ser,ENST00000447558,;GCC2,3_prime_UTR_variant,,ENST00000482325,;	uc002tec.2	c.2903A>G	3617/7537	3	3			c.2903A>G						2	SNP	c.(2902-2904)AAT>AGT	59	59			ovary(1)	1	Broad	GRIP and coiled-coil domain-containing 2			109092033		0.299	ENSG00000135968	6173	g.chr2:109092033A>G	Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding							43.493466	KEEP	11	5	-1	10	11	11	5	-1	43.839619	10	11	0.387097	1	0	0	0	0	1	0	0	0	--	--		0	G			GCC2_uc002ted.2_Missense_Mutation_p.N867S	88	GBM-06-2565-TP	p.N968S	A	GAGAAAATAAATAAGATAAAA	NM_181453	NP_852118	109092033	Q8IWJ2	GCC2_HUMAN	0			8	3057	+	G	G			Missense_Mutation	968			Potential.			
GCC2	0	broad.mit.edu	GRCh37	2	109103075	109103075	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01	TCGA-32-4208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309863.6:c.3901G>A	p.Ala1301Thr	p.A1301T	ENST00000309863	NM_181453.3	1301	Gca/Aca	0			1			A	A/T	uc002tec.2	protein_coding	YES	CCDS33268.1			3901/5055									ovary(1)	1	c.(3901-3903)GCA>ACA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF23	GRIP and coiled-coil domain-containing 2				ENSP00000307939		16/23									COSM3406773	16/23	.		ENST00000309863	Transcript			Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	ENSG00000135968	g.chr2:109103075G>A	23218			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=GCC2_HUMAN&rb=405&re=1312&var=A1301T	NA	getma.org/?cm=var&var=hg19,2,109103075,G,A&fts=all	A1301T	--	--	1																																		GCC2_uc002ted.2_Missense_Mutation_p.A1200T	1	1		benign(0.038)	p.A1301T	NM_181453	NP_852118		tolerated(0.63)	1	GCC2_HUMAN	GCC2	HGNC	Q8IWJ2	GCC2_HUMAN			B8ZZW2_HUMAN,B3KR21_HUMAN		16	4055	+			UPI000049DF0C	1301			Potential.		SNV	GCC2,missense_variant,p.Ala1301Thr,ENST00000309863,NM_181453.3;GCC2,3_prime_UTR_variant,,ENST00000482325,;GCC2,3_prime_UTR_variant,,ENST00000393321,;GCC2,downstream_gene_variant,,ENST00000481729,;GCC2,downstream_gene_variant,,ENST00000447558,;	uc002tec.2	c.3901G>A	4615/7537	1	1			c.3901G>A						2	SNP	c.(3901-3903)GCA>ACA	59	59			ovary(1)	1	Broad	GRIP and coiled-coil domain-containing 2			109103075		0.512	ENSG00000135968	6173	g.chr2:109103075G>A	Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding							-13.85531	KEEP	0	3	-1	47	41	0	3	-1	6.384949	47	41	0.034884	1	0	0	0	0	1	0	0	0	--	--		0	A			GCC2_uc002ted.2_Missense_Mutation_p.A1200T	243	GBM-32-4208-TP	p.A1301T	G	GAGAGTGACAGCACTACAGGA	NM_181453	NP_852118	109103075	Q8IWJ2	GCC2_HUMAN	0			16	4055	+	A	A			Missense_Mutation	1301			Potential.			
GCC2	0	broad.mit.edu	GRCh37	2	109087883	109087884	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-41-2571-01	TCGA-41-2571-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309863.6:c.2106dupA	p.Gln703ThrfsTer4	p.Q703Tfs*4	ENST00000309863	NM_181453.3	700	gaa/gAaa	0			1			A	E/EX	uc002tec.2	protein_coding	YES	CCDS33268.1			2098-2099/5055									ovary(1)	1	c.(2098-2100)GAAfs			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF23	GRIP and coiled-coil domain-containing 2				ENSP00000307939		23-Jun	4.94E-05					4.57E-05		6.14E-05	rs756364486,COSM1721232	23-Jun	.		ENST00000309863	Transcript			Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	ENSG00000135968	g.chr2:109087883_109087884insA	23218	8		HIGH								--	--	1																																		GCC2_uc002ted.2_Frame_Shift_Ins_p.E599fs	0,1	1			p.E700fs	NM_181453	NP_852118			0,1	GCC2_HUMAN	GCC2	HGNC	Q8IWJ2	GCC2_HUMAN			B8ZZW2_HUMAN,B3KR21_HUMAN		6	2252_2253	+			UPI000049DF0C	700			Potential.		insertion	GCC2,frameshift_variant,p.Gln703ThrfsTer4,ENST00000309863,NM_181453.3;GCC2,frameshift_variant,p.Gln666ThrfsTer4,ENST00000409896,;GCC2,upstream_gene_variant,,ENST00000462897,;GCC2,downstream_gene_variant,,ENST00000409821,;GCC2,upstream_gene_variant,,ENST00000492785,;GCC2,downstream_gene_variant,,ENST00000485546,;GCC2,downstream_gene_variant,,ENST00000478207,;GCC2,3_prime_UTR_variant,,ENST00000482325,;GCC2,upstream_gene_variant,,ENST00000447558,;	uc002tec.2	c.2098_2099insA	2812-2813/7537	5	5			c.2098_2099insA						2	INS	c.(2098-2100)GAAfs	8	8			ovary(1)	1	Broad	GRIP and coiled-coil domain-containing 2			109087884		0.307	ENSG00000135968	6173	g.chr2:109087883_109087884insA	Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding																				0.02	1	0	0	1	1	0	0	0	0	--	--		0	A			GCC2_uc002ted.2_Frame_Shift_Ins_p.E599fs	250	GBM-41-2571-TP	p.E700fs	-	ACTCAGTTCAGAAAAAAAACAG	NM_181453	NP_852118	109087883	Q8IWJ2	GCC2_HUMAN	0			6	2252_2253	+	A	A			Frame_Shift_Ins	700			Potential.			
GCC2	9648		GRCh37	2	109103046	109103046	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000309863.6:c.3872C>T	p.Thr1291Met	p.T1291M	ENST00000309863	NM_181453.3	1291	aCg/aTg	0																																																																																																																																																																																																																																												
GCC2	9648		GRCh37	2	109087914	109087914	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000309863.6:c.2135del	p.Leu712CysfsTer16	p.L712Cfs*16	ENST00000309863	NM_181453.3	710	gTt/gt	0																																																																																																																																																																																																																																												
GCG	2641		GRCh37	2	163005628	163005628	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000418842.2:c.61C>T	p.Arg21Cys	p.R21C	ENST00000418842	NM_002054.4	21	Cgt/Tgt	0																																																																																																																																																																																																																																												
GCN1L1	0	broad.mit.edu	GRCh37	12	120599767	120599767	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-12-3649-01	TCGA-12-3649-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300648.6:c.2259T>A	p.Pro753=	p.P753=	ENST00000300648	NM_006836.1	753	ccT/ccA	0			1			T	P	uc001txo.2	protein_coding	YES	CCDS41847.1			2259/8016									ovary(4)	4	c.(2257-2259)CCT>CCA			Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF7	GCN1 general control of amino-acid synthesis				ENSP00000300648		21/58									COSM3398432	21/58	.		ENST00000300648	Transcript			regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	ENSG00000089154	g.chr12:120599767A>T	4199			LOW								--	--	1																																			1	1			p.P753P	NM_006836	NP_006827			1	GCN1L_HUMAN	GCN1L1	HGNC	Q92616	GCN1L_HUMAN			B4DM32_HUMAN		21	2272	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		UPI00001FBC69	753					SNV	GCN1L1,synonymous_variant,p.=,ENST00000300648,NM_006836.1;GCN1L1,non_coding_transcript_exon_variant,,ENST00000550471,;GCN1L1,upstream_gene_variant,,ENST00000547369,;GCN1L1,upstream_gene_variant,,ENST00000551920,;GCN1L1,downstream_gene_variant,,ENST00000551549,;	uc001txo.2	c.2259T>A	2272/8675	2	2			c.2259T>A						12	SNP	c.(2257-2259)CCT>CCA	17	17			ovary(4)	4	Broad	GCN1 general control of amino-acid synthesis			120599767		0.592	ENSG00000089154	6186	g.chr12:120599767A>T	regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding							89.446806	KEEP	17	14	-1	36	30	17	14	-1	91.586657	36	30	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	T				125	GBM-12-3649-TP	p.P753P	A	GGCGCAGTGCAGGGTTCTGCA	NM_006836	NP_006827	120599767	Q92616	GCN1L_HUMAN	0			21	2272	-	T	T	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		Silent	753						
GCN1L1	0	broad.mit.edu	GRCh37	12	120628101	120628101	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01	TCGA-28-2509-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300648.6:c.121G>A	p.Asp41Asn	p.D41N	ENST00000300648	NM_006836.1	41	Gat/Aat	0			1			T	D/N	uc001txo.2	protein_coding	YES	CCDS41847.1			121/8016									ovary(4)	4	c.(121-123)GAT>AAT			hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF7	GCN1 general control of amino-acid synthesis				ENSP00000300648		Feb-58									COSM3747913	Feb-58	.		ENST00000300648	Transcript			regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	ENSG00000089154	g.chr12:120628101C>T	4199			MODERATE		0.205	neutral	getma.org/?cm=msa&ty=f&p=GCN1L_HUMAN&rb=1&re=200&var=D41N	NA	getma.org/?cm=var&var=hg19,12,120628101,C,T&fts=all	D41N	--	--	1																																			1	1		benign(0.165)	p.D41N	NM_006836	NP_006827			1	GCN1L_HUMAN	GCN1L1	HGNC	Q92616	GCN1L_HUMAN			B4DM32_HUMAN		2	134	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		UPI00001FBC69	41					SNV	GCN1L1,missense_variant,p.Asp41Asn,ENST00000300648,NM_006836.1;	uc001txo.2	c.121G>A	134/8675	2	2			c.121G>A						12	SNP	c.(121-123)GAT>AAT	20	20			ovary(4)	4	Broad	GCN1 general control of amino-acid synthesis			120628101		0.303	ENSG00000089154	6186	g.chr12:120628101C>T	regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding							231.328781	KEEP	32	36	-1	38	34	32	36	-1	231.342819	38	34	0.489051	1	0	0	0	0	1	0	0	0	--	--		0	T				211	GBM-28-2509-TP	p.D41N	C	AAATAAATACCTTTTCCAGCA	NM_006836	NP_006827	120628101	Q92616	GCN1L_HUMAN	0			2	134	-	T	T	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		Missense_Mutation	41						
GCN1L1	0	broad.mit.edu	GRCh37	12	120596393	120596393	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01	TCGA-32-4211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300648.6:c.2776C>T	p.Arg926Cys	p.R926C	ENST00000300648	NM_006836.1	926	Cgc/Tgc	0			1			A	R/C	uc001txo.2	protein_coding	YES	CCDS41847.1			2776/8016									ovary(4)	4	c.(2776-2778)CGC>TGC			Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF7	GCN1 general control of amino-acid synthesis				ENSP00000300648		25/58									COSM2157390	25/58	.		ENST00000300648	Transcript			regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	ENSG00000089154	g.chr12:120596393G>A	4199			MODERATE		2.51	medium	getma.org/?cm=msa&ty=f&p=GCN1L_HUMAN&rb=908&re=1107&var=R926C	NA	getma.org/?cm=var&var=hg19,12,120596393,G,A&fts=all	R926C	--	--	1																																			1	1		probably_damaging(0.976)	p.R926C	NM_006836	NP_006827			1	GCN1L_HUMAN	GCN1L1	HGNC	Q92616	GCN1L_HUMAN			B4DM32_HUMAN		25	2789	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		UPI00001FBC69	926					SNV	GCN1L1,missense_variant,p.Arg926Cys,ENST00000300648,NM_006836.1;MIR4498,upstream_gene_variant,,ENST00000577599,;GCN1L1,non_coding_transcript_exon_variant,,ENST00000550471,;GCN1L1,non_coding_transcript_exon_variant,,ENST00000547369,;GCN1L1,upstream_gene_variant,,ENST00000551920,;GCN1L1,upstream_gene_variant,,ENST00000548132,;	uc001txo.2	c.2776C>T	2789/8675	2	2			c.2776C>T						12	SNP	c.(2776-2778)CGC>TGC	43	43			ovary(4)	4	Broad	GCN1 general control of amino-acid synthesis			120596393		0.582	ENSG00000089154	6186	g.chr12:120596393G>A	regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding							17.011962	KEEP	2	6	-1	16	10	2	6	-1	18.602614	16	10	0.25	1	0	0	0	0	1	0	0	0	--	--		0	A				246	GBM-32-4211-TP	p.R926C	G	TTCAGCAGGCGCAGGGTCACG	NM_006836	NP_006827	120596393	Q92616	GCN1L_HUMAN	0			25	2789	-	A	A	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		Missense_Mutation	926						
GCN1L1			GRCh37	12	120582480	120582480	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000300648.6:c.5315C>T	p.Thr1772Ile	p.T1772I	ENST00000300648	NM_006836.1	1772	aCt/aTt	0																																																																																																																																																																																																																																												
GCNT1	2650	broad.mit.edu	GRCh37	9	79118132	79118132	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs656106		TCGA-06-5413-01	TCGA-06-5413-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000442371.1:c.835G>T	p.Glu279Ter	p.E279*	ENST00000442371	NM_001097634.1	279	Gaa/Taa	0			1			T	E/*	uc010mpf.2	protein_coding		CCDS6653.1			835/1287										0	c.(835-837)GAA>TAA			hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF71,Pfam_domain:PF02485	beta-1,3-galactosyl-O-glycosyl-glycoprotein				ENSP00000365920		4-Apr									rs656106,COSM2153179	4-Apr	.		ENST00000376730	Transcript			protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	ENSG00000187210	g.chr9:79118132G>T	4203			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,9,79118132,G,T&fts=all	E279*	--	--	1																																		GCNT1_uc010mpg.2_Nonsense_Mutation_p.E279*|GCNT1_uc010mph.2_Nonsense_Mutation_p.E279*|GCNT1_uc004akf.3_Nonsense_Mutation_p.E279*|GCNT1_uc010mpi.2_Nonsense_Mutation_p.E279*|GCNT1_uc004akh.3_Nonsense_Mutation_p.E279*	0,1				p.E279*	NM_001490	NP_001481			0,1	GCNT1_HUMAN	GCNT1	HGNC	Q02742	GCNT1_HUMAN					3	1176	+			UPI000013CF63	279			Lumenal (Potential).|Catalytic (By similarity).		SNV	GCNT1,stop_gained,p.Glu279Ter,ENST00000442371,NM_001097634.1;GCNT1,stop_gained,p.Glu279Ter,ENST00000376730,NM_001490.4,NM_001097636.1;GCNT1,stop_gained,p.Glu279Ter,ENST00000444201,NM_001097633.1,NM_001097635.1;GCNT1,stop_gained,p.Glu279Ter,ENST00000536223,;GCNT1,downstream_gene_variant,,ENST00000488136,;GCNT1,downstream_gene_variant,,ENST00000480311,;	uc010mpf.2	c.835G>T	1318/5518	5	2			c.835G>T						9	SNP	c.(835-837)GAA>TAA	29	29				0	Broad	beta-1,3-galactosyl-O-glycosyl-glycoprotein			79118132		0.463	ENSG00000187210	6187	g.chr9:79118132G>T	protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity							73.989966	KEEP	19	9	0.678571429	20	27	19	9	0.678571429	74.865625	20	27	0.375	1	0	0	0	0	0	1	0	0	--	--		0	T			GCNT1_uc010mpg.2_Nonsense_Mutation_p.E279*|GCNT1_uc010mph.2_Nonsense_Mutation_p.E279*|GCNT1_uc004akf.3_Nonsense_Mutation_p.E279*|GCNT1_uc010mpi.2_Nonsense_Mutation_p.E279*|GCNT1_uc004akh.3_Nonsense_Mutation_p.E279*	96	GBM-06-5413-TP	p.E279*	G	TCCTCCACTCGAAACACCTCT	NM_001490	NP_001481	79118132	Q02742	GCNT1_HUMAN	0			3	1176	+	T	T			Nonsense_Mutation	279			Lumenal (Potential).|Catalytic (By similarity).			
GCNT2	0	broad.mit.edu	GRCh37	6	10529185	10529186	+	frameshift_variant	Frame_Shift_Del	DEL	TT	TT	-			TCGA-14-0781-01	TCGA-14-0781-01	TT	TT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379597.3:c.41_42delTT	p.Leu14HisfsTer13	p.L14Hfs*13	ENST00000379597		14	cTT/c	0			1			-	L/X	uc010joo.2	protein_coding	YES	CCDS34338.1			41-42/1209									ovary(2)	2	c.(40-42)CTTfs			hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF78,Transmembrane_helices:TMhelix	glucosaminyl (N-acetyl) transferase 2,				ENSP00000368917		3-Jan										3-Jan	.		ENST00000379597	Transcript	1			Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	ENSG00000111846	g.chr6:10529185_10529186delTT	4204			HIGH								--	--	1																																		GCNT2_uc010jol.2_Intron|GCNT2_uc010jom.2_Intron|GCNT2_uc010jop.2_Intron|GCNT2_uc003mza.2_Intron|GCNT2_uc003mzc.3_Frame_Shift_Del_p.L13fs|GCNT2_uc010jon.2_Frame_Shift_Del_p.L13fs		1			p.L14fs	NM_145649	NP_663624				GNT2A_HUMAN	GCNT2	HGNC	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	Q8N7N7_HUMAN,Q08M29_HUMAN		3	592_593	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	UPI000006E705	14			Helical; Signal-anchor for type II membrane protein; (Potential).		deletion	GCNT2,frameshift_variant,p.Leu14HisfsTer13,ENST00000379597,;GCNT2,frameshift_variant,p.Leu14HisfsTer13,ENST00000495262,NM_145649.4;GCNT2,intron_variant,,ENST00000410107,;GCNT2,intron_variant,,ENST00000397423,;GCNT2,intron_variant,,ENST00000489225,;GCNT2,intron_variant,,ENST00000474518,;GCNT2,intron_variant,,ENST00000475577,;GCNT2,intron_variant,,ENST00000498320,;GCNT2,intron_variant,,ENST00000489819,;GCNT2,upstream_gene_variant,,ENST00000485764,;GCNT2,downstream_gene_variant,,ENST00000488742,;GCNT2,non_coding_transcript_exon_variant,,ENST00000474983,;GCNT2,non_coding_transcript_exon_variant,,ENST00000483204,;GCNT2,upstream_gene_variant,,ENST00000461400,;	uc010joo.2	c.41_42delTT	597-598/4525	5	5			c.41_42delTT						6	DEL	c.(40-42)CTTfs	22	22			ovary(2)	2	Broad	glucosaminyl (N-acetyl) transferase 2,			10529186		0.401	ENSG00000111846	6188	g.chr6:10529185_10529186delTT		Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			312			312														0.13	1	1	0	1	0	0	0	0	0	--	--		0	-			GCNT2_uc010jol.2_Intron|GCNT2_uc010jom.2_Intron|GCNT2_uc010jop.2_Intron|GCNT2_uc003mza.2_Intron|GCNT2_uc003mzc.3_Frame_Shift_Del_p.L13fs|GCNT2_uc010jon.2_Frame_Shift_Del_p.L13fs	133	GBM-14-0781-TP	p.L14fs	TT	AGCGCGTCTCTTATCTCTGCCC	NM_145649	NP_663624	10529185	Q8N0V5	GNT2A_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	3	592_593	+	-	-	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	Frame_Shift_Del	14			Helical; Signal-anchor for type II membrane protein; (Potential).			
GCNT3	9245	broad.mit.edu	GRCh37	15	59911701	59911701	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0166-01	TCGA-06-0166-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396065.1:c.1264C>T	p.Gln422Ter	p.Q422*	ENST00000396065	NM_004751.2	422	Cag/Tag	0			1			T	Q/*	uc002age.2	protein_coding	YES	CCDS10172.1			1264/1317									ovary(1)|central_nervous_system(1)	2	c.(1264-1266)CAG>TAG			hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF81	glucosaminyl (N-acetyl) transferase 3, mucin				ENSP00000379377		3-Mar									COSM2150187	3-Mar	.		ENST00000396065	Transcript			protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	ENSG00000140297	g.chr15:59911701C>T	4205			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,15,59911701,C,T&fts=all	Q422*	--	--	1																																		GCNT3_uc002agd.2_Nonsense_Mutation_p.Q422*	1	1			p.Q422*	NM_004751	NP_004742			1	GCNT3_HUMAN	GCNT3	HGNC	O95395	GCNT3_HUMAN			H0YNA3_HUMAN,H0YMW7_HUMAN,H0YM40_HUMAN		3	1713	+			UPI0000034962	422			Lumenal (Potential).		SNV	GCNT3,stop_gained,p.Gln422Ter,ENST00000396065,NM_004751.2;GCNT3,stop_gained,p.Gln422Ter,ENST00000560585,;GCNT3,downstream_gene_variant,,ENST00000559189,;GCNT3,downstream_gene_variant,,ENST00000559626,;GCNT3,downstream_gene_variant,,ENST00000559200,;GCNT3,intron_variant,,ENST00000560210,;GCNT3,downstream_gene_variant,,ENST00000560580,;GCNT3,downstream_gene_variant,,ENST00000560874,;GCNT3,downstream_gene_variant,,ENST00000558721,;	uc002age.2	c.1264C>T	1712/3034	5	2			c.1264C>T						15	SNP	c.(1264-1266)CAG>TAG	21	21			ovary(1)|central_nervous_system(1)	2	Broad	glucosaminyl (N-acetyl) transferase 3, mucin			59911701		0.458	ENSG00000140297	6189	g.chr15:59911701C>T	protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity							339.116417	KEEP	63	69	-1	111	149	63	69	-1	347.149116	111	149	0.340782	1	0	0	0	0	0	1	0	0	--	--		0	T			GCNT3_uc002agd.2_Nonsense_Mutation_p.Q422*	31	GBM-06-0166-TP	p.Q422*	C	TAATGCTCTTCAGTGCTTAGA	NM_004751	NP_004742	59911701	O95395	GCNT3_HUMAN	0			3	1713	+	T	T			Nonsense_Mutation	422			Lumenal (Potential).			
GCNT4	51301		GRCh37	5	74325583	74325583	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000322348.4:c.280G>T	p.Asp94Tyr	p.D94Y	ENST00000322348	NM_016591.2	94	Gac/Tac	0																																																																																																																																																																																																																																												
GCSAM	257144	broad.mit.edu	GRCh37	3	111842417	111842417	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0221-01	TCGA-06-0221-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000484193.1:c.428C>T	p.Ala143Val	p.A143V	ENST00000484193		143	gCc/gTc	0			1			A	A/V	uc003dys.1	protein_coding		CCDS2964.1			422/537										0	c.(421-423)GCC>GTC				germinal center expressed transcript 2 isoform				ENSP00000309487		6-Jun									COSM3408131	6-Jun	.		ENST00000308910	Transcript				mitochondrion		ENSG00000174500	g.chr3:111842417G>A	20253			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=GCET2_HUMAN&rb=49&re=176&var=A141V	NA	getma.org/?cm=var&var=hg19,3,111842417,G,A&fts=all	A141V	--	--	1																																		C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron|GCET2_uc003dyt.1_Missense_Mutation_p.A75V	1			benign(0.366)	p.A141V	NM_152785	NP_689998		tolerated(1)	1	GCSAM_HUMAN	GCSAM	HGNC	Q8N6F7	GCET2_HUMAN			C9JY41_HUMAN,C9IY73_HUMAN		6	572	-			UPI000000D7DB	141					SNV	GCSAM,missense_variant,p.Ala141Val,ENST00000308910,NM_001190259.1,NM_001190260.1,NM_152785.4;GCSAM,missense_variant,p.Ala143Val,ENST00000484193,;GCSAM,missense_variant,p.Ala124Val,ENST00000488580,;GCSAM,missense_variant,p.Ala126Val,ENST00000460387,;GCSAM,downstream_gene_variant,,ENST00000487901,;C3orf52,downstream_gene_variant,,ENST00000430855,;C3orf52,intron_variant,,ENST00000467942,;GCSAM,3_prime_UTR_variant,,ENST00000470085,;GCSAM,3_prime_UTR_variant,,ENST00000495418,;C3orf52,intron_variant,,ENST00000480282,;	uc003dys.1	c.422C>T	607/3336	2	2			c.422C>T						3	SNP	c.(421-423)GCC>GTC	18	18				0	Broad	germinal center expressed transcript 2 isoform			111842417		0.458	ENSG00000174500	6175	g.chr3:111842417G>A		mitochondrion								-45.993485	KEEP	2	5	-1	101	114	2	5	-1	6.869983	101	114	0.019608	1	0	0	0	0	1	0	0	0	--	--		0	A			C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron|GCET2_uc003dyt.1_Missense_Mutation_p.A75V	53	GBM-06-0221-TP	p.A141V	G	TGGGGATCGGGCATGCCTGGG	NM_152785	NP_689998	111842417	Q8N6F7	GCET2_HUMAN	0			6	572	-	A	A			Missense_Mutation	141						
GCSAM	257144	broad.mit.edu	GRCh37	3	111842437	111842437	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0648-01	TCGA-06-0648-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000484193.1:c.408T>C	p.Pro136=	p.P136=	ENST00000484193		136	ccT/ccC	0			1			G	P	uc003dys.1	protein_coding		CCDS2964.1			402/537										0	c.(400-402)CCT>CCC				germinal center expressed transcript 2 isoform				ENSP00000309487		6-Jun									COSM3408132	6-Jun	.		ENST00000308910	Transcript				mitochondrion		ENSG00000174500	g.chr3:111842437A>G	20253			LOW								--	--	1																																		C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron|GCET2_uc003dyt.1_Silent_p.P68P	1				p.P134P	NM_152785	NP_689998			1	GCSAM_HUMAN	GCSAM	HGNC	Q8N6F7	GCET2_HUMAN			C9JY41_HUMAN,C9IY73_HUMAN		6	552	-			UPI000000D7DB	134					SNV	GCSAM,synonymous_variant,p.=,ENST00000308910,NM_001190259.1,NM_001190260.1,NM_152785.4;GCSAM,synonymous_variant,p.=,ENST00000484193,;GCSAM,synonymous_variant,p.=,ENST00000488580,;GCSAM,synonymous_variant,p.=,ENST00000460387,;GCSAM,downstream_gene_variant,,ENST00000487901,;C3orf52,downstream_gene_variant,,ENST00000430855,;C3orf52,intron_variant,,ENST00000467942,;GCSAM,3_prime_UTR_variant,,ENST00000470085,;GCSAM,3_prime_UTR_variant,,ENST00000495418,;C3orf52,intron_variant,,ENST00000480282,;	uc003dys.1	c.402T>C	587/3336	3	3			c.402T>C						3	SNP	c.(400-402)CCT>CCC	55	55				0	Broad	germinal center expressed transcript 2 isoform			111842437		0.483	ENSG00000174500	6175	g.chr3:111842437A>G		mitochondrion								39.19795	KEEP	20	14	-1	160	192	20	14	-1	96.303495	160	192	0.095101	1	0	0	0	0	0	0	1	0	--	--		0	G			C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron|GCET2_uc003dyt.1_Silent_p.P68P	61	GBM-06-0648-TP	p.P134P	A	GGTCTGTAGAAGGCATATGTA	NM_152785	NP_689998	111842437	Q8N6F7	GCET2_HUMAN	0			6	552	-	G	G			Silent	134						
GCSAM	0	broad.mit.edu	GRCh37	3	111846908	111846908	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C			TCGA-12-5301-01	TCGA-12-5301-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308910.4:c.99A>G	p.Arg33=	p.R33=	ENST00000308910	NM_001190259.1	33	agA/agG	0			1			C	R	uc003dys.1	protein_coding		CCDS2964.1			99/537										0	c.(97-99)AGA>AGG				germinal center expressed transcript 2 isoform				ENSP00000309487		6-Mar									COSM3408133	6-Mar	.		ENST00000308910	Transcript				mitochondrion		ENSG00000174500	g.chr3:111846908T>C	20253			LOW								--	--	1																																		C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron|GCET2_uc003dyt.1_5'UTR	1				p.R33R	NM_152785	NP_689998			1	GCSAM_HUMAN	GCSAM	HGNC	Q8N6F7	GCET2_HUMAN			C9JY41_HUMAN,C9IY73_HUMAN		3	249	-			UPI000000D7DB	33					SNV	GCSAM,splice_region_variant,p.=,ENST00000308910,NM_001190259.1,NM_001190260.1,NM_152785.4;GCSAM,splice_region_variant,p.=,ENST00000484193,;GCSAM,splice_region_variant,p.=,ENST00000488580,;GCSAM,splice_region_variant,p.=,ENST00000487901,;GCSAM,intron_variant,,ENST00000460387,;C3orf52,intron_variant,,ENST00000467942,;GCSAM,3_prime_UTR_variant,,ENST00000470085,;GCSAM,3_prime_UTR_variant,,ENST00000495418,;C3orf52,intron_variant,,ENST00000480282,;	uc003dys.1	c.99A>G	284/3336	3	3			c.99A>G						3	SNP	c.(97-99)AGA>AGG	54	54				0	Broad	germinal center expressed transcript 2 isoform			111846908		0.408	ENSG00000174500	6175	g.chr3:111846908T>C		mitochondrion								-8.268187	KEEP	3	1	-1	43	51	3	1	-1	10.026627	43	51	0.047619	1	0	0	0	0	0	0	1	0	--	--		0	C			C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron|GCET2_uc003dyt.1_5'UTR	131	GBM-12-5301-TP	p.R33R	T	GATCCCAGCATCTAAAATACC	NM_152785	NP_689998	111846908	Q8N6F7	GCET2_HUMAN	0			3	249	-	C	C			Silent	33						
GCSAM	0	broad.mit.edu	GRCh37	3	111852081	111852081	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A			TCGA-32-1970-01	TCGA-32-1970-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308910.4:c.-114C>T		*38*	ENST00000308910	NM_001190259.1			0			1			A		uc003dys.1	protein_coding		CCDS2964.1			-/537										0	c.(-115--111)CACGG>CATGG				germinal center expressed transcript 2 isoform				ENSP00000309487		6-Jan									rs775541706	6-Jan	.		ENST00000308910	Transcript				mitochondrion		ENSG00000174500	g.chr3:111852081G>A	20253			MODIFIER								--	--	1																																		GCET2_uc003dyt.1_Translation_Start_Site						NM_152785	NP_689998				GCSAM_HUMAN	GCSAM	HGNC	Q8N6F7	GCET2_HUMAN			C9JY41_HUMAN,C9IY73_HUMAN		1	37	-			UPI000000D7DB						SNV	GCSAM,5_prime_UTR_variant,,ENST00000308910,NM_001190259.1,NM_001190260.1,NM_152785.4;GCSAM,5_prime_UTR_variant,,ENST00000484193,;GCSAM,5_prime_UTR_variant,,ENST00000487901,;GCSAM,5_prime_UTR_variant,,ENST00000460387,;GCSAM,upstream_gene_variant,,ENST00000488580,;RP11-757F18.5,upstream_gene_variant,,ENST00000563632,;C3orf52,downstream_gene_variant,,ENST00000467942,;GCSAM,5_prime_UTR_variant,,ENST00000470085,;C3orf52,downstream_gene_variant,,ENST00000480282,;GCSAM,upstream_gene_variant,,ENST00000495418,;	uc003dys.1	c.-113C>T	72/3336	2	2			c.-113C>T						3	SNP	c.(-115--111)CACGG>CATGG	22	22				0	Broad	germinal center expressed transcript 2 isoform			111852081		0.557	ENSG00000174500	6175	g.chr3:111852081G>A		mitochondrion								100.442042	KEEP	15	19	-1	18	19	15	19	-1	100.469824	18	19	0.478873	1	0	0	0	0	0	0	0	0	--	--		0	A			GCET2_uc003dyt.1_Translation_Start_Site	228	GBM-32-1970-TP		G	CTGGCCACCCGTGCAGAGACA	NM_152785	NP_689998	111852081	Q8N6F7	GCET2_HUMAN	0			1	37	-	A	A			Translation_Start_Site							
GCSAML	148823		GRCh37	1	247712504	247712504	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000366488.4:c.11A>T	p.Tyr4Phe	p.Y4F	ENST00000366488	NM_145278.3	4	tAt/tTt	0																																																																																																																																																																																																																																												
GCSH	2653	broad.mit.edu	GRCh37	16	81134885	81134885	+	upstream_gene_variant	5'Flank	SNP	G	G	A			TCGA-06-2570-01	TCGA-06-2570-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.				ENST00000315467	NM_004483.4			0	A:0.0018	A:0.0008	1	A:0		A		uc002fgh.1	protein_coding	YES	CCDS10933.1			-/522									ovary(1)|central_nervous_system(1)|pancreas(1)	3	c.(7222-7224)TCG>TTG	4877			polycystin 1-like 2 isoform a		A:0	A:0.0006	ENSP00000319531	A:0		0.000819	0.00104	8.83E-05			0.00133			rs201386227		common_variant		ENST00000315467	Transcript	1	A:0.0002	neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	ENSG00000140905	g.chr16:81134885G>A	4208			MODIFIER								--	--	1																																		PKD1L2_uc002fgf.1_Missense_Mutation_p.S208L|PKD1L2_uc002fgg.1_RNA		1			p.S2408L	NM_052892	NP_443124	A:0			GCSH_HUMAN	GCSH	HGNC	Q7Z442	PK1L2_HUMAN			Q6QN92_HUMAN		45	7223	-			UPI000013FAFB	2408			Extracellular (Potential).|Interaction with GNAS and GNAI1.		SNV	GCSH,upstream_gene_variant,,ENST00000315467,NM_004483.4;GCSH,upstream_gene_variant,,ENST00000566566,;PKD1L2,non_coding_transcript_exon_variant,,ENST00000534142,;PKD1L2,non_coding_transcript_exon_variant,,ENST00000534447,;GCSH,upstream_gene_variant,,ENST00000564477,;PKD1L2,missense_variant,p.Arg2408Trp,ENST00000525539,NM_052892.3;PKD1L2,missense_variant,p.Arg1723Trp,ENST00000533478,NM_001278425.1;	uc002fgh.1	c.7223C>T	-/1552	2	2			c.7223C>T						16	SNP	c.(7222-7224)TCG>TTG	33	33			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Broad	polycystin 1-like 2 isoform a			81134885		0.443	ENSG00000140905	11768	g.chr16:81134885G>A	neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding							70.551328	KEEP	9	18	-1	7	17	9	18	-1	70.598888	7	17	0.536585	1	0	0	0	0	1	0	0	0	--	--		0	A			PKD1L2_uc002fgf.1_Missense_Mutation_p.S208L|PKD1L2_uc002fgg.1_RNA	91	GBM-06-2570-TP	p.S2408L	G	CCCTTCCTCCGACAGCTGCAA	NM_052892	NP_443124	81134885	Q7Z442	PK1L2_HUMAN	0			45	7223	-	A	A			Missense_Mutation	2408			Extracellular (Potential).|Interaction with GNAS and GNAI1.			
GDA	9615	broad.mit.edu	GRCh37	9	74863239	74863239	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01	TCGA-06-0939-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000238018.4:c.1346C>T	p.Pro449Leu	p.P449L	ENST00000238018		449	cCg/cTg	0			1			T	P/L	uc004aiq.2	protein_coding		CCDS6641.1			1346/1365									ovary(2)|central_nervous_system(2)|skin(1)	5	c.(1345-1347)CCG>CTG				guanine deaminase				ENSP00000351170		14/14									COSM2152407,COSM2152408	14/14	.		ENST00000358399	Transcript			nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	ENSG00000119125	g.chr9:74863239C>T	4212			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=GUAD_HUMAN&rb=402&re=454&var=P449L	getma.org/pdb.php?prot=GUAD_HUMAN&from=402&to=454&var=P449L	getma.org/?cm=var&var=hg19,9,74863239,C,T&fts=all	P449L	--	--	1																																		GDA_uc011lse.1_Missense_Mutation_p.P375L|GDA_uc011lsf.1_Missense_Mutation_p.P375L|GDA_uc004air.2_Missense_Mutation_p.P449L|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Missense_Mutation_p.P371L	1,1			probably_damaging(0.921)	p.P449L	NM_004293	NP_004284		deleterious(0.01)	1,1	GUAD_HUMAN	GDA	HGNC	Q9Y2T3	GUAD_HUMAN		Lung(182;0.0583)	B4DIP8_HUMAN,B3KUM3_HUMAN		14	1529	+		Myeloproliferative disorder(762;0.0122)	UPI000012BD83	449					SNV	GDA,missense_variant,p.Pro449Leu,ENST00000358399,NM_001242506.2,NM_001242505.2,NM_004293.4;GDA,missense_variant,p.Pro371Leu,ENST00000376986,;GDA,missense_variant,p.Pro449Leu,ENST00000238018,;GDA,missense_variant,p.Pro375Leu,ENST00000545168,NM_001242507.2;GDA,missense_variant,p.Pro388Leu,ENST00000376989,;GDA,missense_variant,p.Pro157Leu,ENST00000436438,;GDA,missense_variant,p.Pro449Leu,ENST00000475764,;GDA,missense_variant,p.Pro171Leu,ENST00000489618,;	uc004aiq.2	c.1346C>T	1439/5340	2	2			c.1346C>T						9	SNP	c.(1345-1347)CCG>CTG	33	33			ovary(2)|central_nervous_system(2)|skin(1)	5	Broad	guanine deaminase			74863239		0.443	ENSG00000119125	6193	g.chr9:74863239C>T	nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding							152.788028	KEEP	23	46	-1	91	72	23	46	-1	161.089654	91	72	0.285	1	0	0	0	0	1	0	0	0	--	--		0	T			GDA_uc011lse.1_Missense_Mutation_p.P375L|GDA_uc011lsf.1_Missense_Mutation_p.P375L|GDA_uc004air.2_Missense_Mutation_p.P449L|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Missense_Mutation_p.P371L	78	GBM-06-0939-TP	p.P449L	C	CAGGTGGTTCCGTTTTCCAGC	NM_004293	NP_004284	74863239	Q9Y2T3	GUAD_HUMAN	0		Lung(182;0.0583)	14	1529	+	T	T		Myeloproliferative disorder(762;0.0122)	Missense_Mutation	449						
GDF10	0	broad.mit.edu	GRCh37	10	48429388	48429388	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-1838-01	TCGA-27-1838-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000224605.2:c.498G>A	p.Pro166=	p.P166=	ENST00000224605	NM_004962.3	166	ccG/ccA	0			1			T	P	uc001jfb.2	protein_coding	YES	CCDS7220.1			498/1437									lung(1)|central_nervous_system(1)	2	c.(496-498)CCG>CCA			hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF145,PIRSF_domain:PIRSF037403	growth differentiation factor 10 precursor				ENSP00000224605		3-Feb									COSM3397146	3-Feb	.		ENST00000224605	Transcript			growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	ENSG00000107623	g.chr10:48429388C>T	4215			LOW								--	--	1																																		GDF10_uc009xnp.2_Silent_p.P165P|GDF10_uc009xnq.1_Silent_p.P166P	1	1			p.P166P	NM_004962	NP_004953			1	BMP3B_HUMAN	GDF10	HGNC	P55107	BMP3B_HUMAN			Q8N6T2_HUMAN		2	954	-			UPI0000126A13	166					SNV	GDF10,synonymous_variant,p.=,ENST00000224605,NM_004962.3;	uc001jfb.2	c.498G>A	764/2458	2	2			c.498G>A						10	SNP	c.(496-498)CCG>CCA	25	25			lung(1)|central_nervous_system(1)	2	Broad	growth differentiation factor 10 precursor			48429388		0.726	ENSG00000107623	6198	g.chr10:48429388C>T	growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity							38.506712	KEEP	7	7	-1	2	1	7	7	-1	40.224919	2	1	0.857143	1	0	0	0	0	0	0	1	0	--	--		0	T			GDF10_uc009xnp.2_Silent_p.P165P|GDF10_uc009xnq.1_Silent_p.P166P	197	GBM-27-1838-TP	p.P166P	C	GGCGTGTGGGCGGGCCCAGGG	NM_004962	NP_004953	48429388	P55107	BMP3B_HUMAN	0			2	954	-	T	T			Silent	166						
GDF2	0	broad.mit.edu	GRCh37	10	48413956	48413956	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000249598.1:c.912G>A	p.Thr304=	p.T304=	ENST00000249598	NM_016204.1	304	acG/acA	0			1			T	T	uc001jfa.1	protein_coding	YES	CCDS7219.1			912/1290									ovary(2)|skin(1)	3	c.(910-912)ACG>ACA			hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF127	growth differentiation factor 2 precursor				ENSP00000249598		2-Feb	8.24E-06							6.06E-05	rs201627211,COSM2154761	2-Feb	.		ENST00000249598	Transcript			activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	ENSG00000128802	g.chr10:48413956C>T	4217			LOW								--	--	1																																			0,1	1			p.T304T	NM_016204	NP_057288			0,1	GDF2_HUMAN	GDF2	HGNC	Q9UK05	GDF2_HUMAN					2	1075	-			UPI000012B394	304					SNV	GDF2,synonymous_variant,p.=,ENST00000249598,NM_016204.1;	uc001jfa.1	c.912G>A	1072/1936	2	2			c.912G>A						10	SNP	c.(910-912)ACG>ACA	20	20			ovary(2)|skin(1)	3	Broad	growth differentiation factor 2 precursor			48413956		0.607	ENSG00000128802	6201	g.chr10:48413956C>T	activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity							103.339256	KEEP	20	18	-1	13	11	20	18	-1	104.768976	13	11	0.688889	1	0	0	0	0	0	0	1	0	--	--		0	T				138	GBM-14-0813-TP	p.T304T	C	CGTGGCCATCCGTGTCCTCCT	NM_016204	NP_057288	48413956	Q9UK05	GDF2_HUMAN	0			2	1075	-	T	T			Silent	304						
GDF3	0	broad.mit.edu	GRCh37	12	7848193	7848193	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-1450-01	TCGA-14-1450-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329913.3:c.132C>T	p.Phe44=	p.F44=	ENST00000329913	NM_020634.1	44	ttC/ttT	0			1			A	F	uc001qte.2	protein_coding	YES	CCDS8581.1			132/1095									skin(3)|ovary(1)|lung(1)|central_nervous_system(1)	6	c.(130-132)TTC>TTT			hmmpanther:PTHR11848:SF38,hmmpanther:PTHR11848,Pfam_domain:PF00688	growth differentiation factor 3 precursor				ENSP00000331745		2-Jan									COSM3399120	2-Jan	.		ENST00000329913	Transcript	1		eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	ENSG00000184344	g.chr12:7848193G>A	4218			LOW								--	--	1																																			1	1			p.F44F	NM_020634	NP_065685			1	GDF3_HUMAN	GDF3	HGNC	Q9NR23	GDF3_HUMAN					1	168	-			UPI0000049E0E	44					SNV	GDF3,synonymous_variant,p.=,ENST00000329913,NM_020634.1;	uc001qte.2	c.132C>T	180/1239	2	2			c.132C>T						12	SNP	c.(130-132)TTC>TTT	17	17			skin(3)|ovary(1)|lung(1)|central_nervous_system(1)	6	Broad	growth differentiation factor 3 precursor			7848193		0.498	ENSG00000184344	6202	g.chr12:7848193G>A	eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity							28.137717	KEEP	6	9	-1	27	29	6	9	-1	32.780121	27	29	0.213115	1	0	0	0	0	0	0	1	0	--	--		0	A				145	GBM-14-1450-TP	p.F44F	G	GCACAGGTTGGAACTTCTGGG	NM_020634	NP_065685	7848193	Q9NR23	GDF3_HUMAN	0			1	168	-	A	A			Silent	44						
GDF3	9573		GRCh37	12	7842975	7842975	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000329913.3:c.594C>T	p.Phe198=	p.F198=	ENST00000329913	NM_020634.1	198	ttC/ttT	0																																																																																																																																																																																																																																												
GDF6	0	broad.mit.edu	GRCh37	8	97157751	97157751	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C			TCGA-27-2521-01	TCGA-27-2521-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000287020.5:c.408C>G	p.Asp136Glu	p.D136E	ENST00000287020	NM_001001557.2	136	gaC/gaG	0			1			C	D/E	uc003yhp.2	protein_coding	YES	CCDS34926.1			408/1368									ovary(1)|breast(1)|pancreas(1)	3	c.(406-408)GAC>GAG			Pfam_domain:PF00688,hmmpanther:PTHR11848:SF129,hmmpanther:PTHR11848	growth differentiation factor 6 precursor				ENSP00000287020		2-Feb									COSM3413181	2-Feb	.		ENST00000287020	Transcript	1		activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	ENSG00000156466	g.chr8:97157751G>C	4221			MODERATE		2.265	medium	getma.org/?cm=msa&ty=f&p=GDF6_HUMAN&rb=52&re=281&var=D136E	NA	getma.org/?cm=var&var=hg19,8,97157751,G,C&fts=all	D136E	--	--	1																																			1	1		benign(0.261)	p.D136E	NM_001001557	NP_001001557		deleterious(0.04)	1	GDF6_HUMAN	GDF6	HGNC	Q6KF10	GDF6_HUMAN			M1L5L6_HUMAN,M1L0V3_HUMAN		2	508	-	Breast(36;2.67e-05)		UPI0000047253	136					SNV	GDF6,missense_variant,p.Asp136Glu,ENST00000287020,NM_001001557.2;KB-1043D8.8,upstream_gene_variant,,ENST00000602571,;	uc003yhp.2	c.408C>G	508/3697	3	3			c.408C>G						8	SNP	c.(406-408)GAC>GAG	2	2			ovary(1)|breast(1)|pancreas(1)	3	Broad	growth differentiation factor 6 precursor			97157751		0.557	ENSG00000156466	6204	g.chr8:97157751G>C	activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity							15.128156	KEEP	4	7	-1	19	18	4	7	-1	19.141368	19	18	0.162162	1	0	0	0	0	1	0	0	0	--	--		0	C				200	GBM-27-2521-TP	p.D136E	G	GCGAGAGATCGTCTGCGAGAT	NM_001001557	NP_001001557	97157751	Q6KF10	GDF6_HUMAN	0			2	508	-	C	C	Breast(36;2.67e-05)		Missense_Mutation	136						
GDI1	0	broad.mit.edu	GRCh37	X	153666947	153666947	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01	TCGA-19-5951-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000447750.2:c.124G>A	p.Glu42Lys	p.E42K	ENST00000447750	NM_001493.2	42	Gag/Aag	0			1			A	E/K	uc004fli.3	protein_coding	YES	CCDS35452.1			124/1344										0	c.(124-126)GAG>AAG			hmmpanther:PTHR11787:SF3,hmmpanther:PTHR11787,Pfam_domain:PF00996,Gene3D:3.50.50.60,Superfamily_domains:SSF51905	GDP dissociation inhibitor 1				ENSP00000394071		11-Feb									COSM2156604	11-Feb	.		ENST00000447750	Transcript	1		protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	ENSG00000203879	g.chrX:153666947G>A	4226			MODERATE		3.31	medium	getma.org/?cm=msa&ty=f&p=GDIA_HUMAN&rb=1&re=438&var=E42K	getma.org/pdb.php?prot=GDIA_HUMAN&from=1&to=438&var=E42K	getma.org/?cm=var&var=hg19,X,153666947,G,A&fts=all	E42K	--	--	1																																		GDI1_uc011mzo.1_Missense_Mutation_p.E42K	1	1		benign(0.09)	p.E42K	NM_001493	NP_001484		deleterious(0)	1	GDIA_HUMAN	GDI1	HGNC	P31150	GDIA_HUMAN			B4E070_HUMAN,B4DHX4_HUMAN		2	466	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		UPI000012B39B	42					SNV	GDI1,missense_variant,p.Glu42Lys,ENST00000447750,NM_001493.2;ATP6AP1,downstream_gene_variant,,ENST00000369762,NM_001183.4;ATP6AP1,downstream_gene_variant,,ENST00000422890,;ATP6AP1,downstream_gene_variant,,ENST00000449556,;GDI1,non_coding_transcript_exon_variant,,ENST00000475976,;GDI1,non_coding_transcript_exon_variant,,ENST00000485143,;GDI1,upstream_gene_variant,,ENST00000465640,;ATP6AP1,downstream_gene_variant,,ENST00000484908,;GDI1,upstream_gene_variant,,ENST00000471972,;GDI1,missense_variant,p.Glu42Lys,ENST00000434049,;GDI1,3_prime_UTR_variant,,ENST00000445564,;GDI1,3_prime_UTR_variant,,ENST00000415109,;GDI1,non_coding_transcript_exon_variant,,ENST00000491154,;GDI1,non_coding_transcript_exon_variant,,ENST00000481304,;ATP6AP1,downstream_gene_variant,,ENST00000455205,;GDI1,upstream_gene_variant,,ENST00000468483,;ATP6AP1,downstream_gene_variant,,ENST00000491569,;GDI1,upstream_gene_variant,,ENST00000476540,;GDI1,upstream_gene_variant,,ENST00000489589,;ATP6AP1,downstream_gene_variant,,ENST00000429585,;GDI1,upstream_gene_variant,,ENST00000460984,;	uc004fli.3	c.124G>A	459/2474	2	2			c.124G>A						23	SNP	c.(124-126)GAG>AAG	20	20				0	Broad	GDP dissociation inhibitor 1			153666947		0.617	ENSG00000203879	6207	g.chrX:153666947G>A	protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding							158.863401	KEEP	25	28	-1	33	28	25	28	-1	158.863401	33	28	0.5	1	0	0	0	0	1	0	0	0	--	--		0	A			GDI1_uc011mzo.1_Missense_Mutation_p.E42K	171	GBM-19-5951-TP	p.E42K	G	CTACGGGGGCGAGAGCTCCTC	NM_001493	NP_001484	153666947	P31150	GDIA_HUMAN	0			2	466	+	A	A	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		Missense_Mutation	42						
GDNF	0	broad.mit.edu	GRCh37	5	37815950	37815950	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-3653-01	TCGA-12-3653-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326524.2:c.439G>A	p.Gly147Ser	p.G147S	ENST00000326524	NM_000514.3	147	Ggc/Agc	0			1			T	G/S	uc011cpi.1	protein_coding		CCDS3922.1			439/636										0	c.(439-441)GGC>AGC			PROSITE_profiles:PS51362,hmmpanther:PTHR12173,hmmpanther:PTHR12173:SF1,Gene3D:2.10.90.10,Pfam_domain:PF00019,SMART_domains:SM00204,PIRSF_domain:PIRSF016238,Superfamily_domains:SSF57501	glial cell derived neurotrophic factor isoform 1				ENSP00000317145		3-Mar									COSM3410260,COSM3410259	3-Mar	.		ENST00000326524	Transcript	1		adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity	ENSG00000168621	g.chr5:37815950C>T	4232			MODERATE		2.605	medium	getma.org/?cm=msa&ty=f&p=GDNF_HUMAN&rb=115&re=211&var=G147S	getma.org/pdb.php?prot=GDNF_HUMAN&from=115&to=211&var=G147S	getma.org/?cm=var&var=hg19,5,37815950,C,T&fts=all	G147S	--	--	1																																		GDNF_uc011cpc.1_Missense_Mutation_p.G69S|GDNF_uc011cpd.1_Missense_Mutation_p.G95S|GDNF_uc011cpe.1_Missense_Mutation_p.G121S|GDNF_uc011cpf.1_Missense_Mutation_p.G121S|GDNF_uc011cpg.1_Missense_Mutation_p.G164S|GDNF_uc011cph.1_Missense_Mutation_p.G138S	1,1			probably_damaging(1)	p.G147S	NM_000514	NP_000505		deleterious(0)	1,1	GDNF_HUMAN	GDNF	HGNC	P39905	GDNF_HUMAN					3	639	-	all_lung(31;0.00118)		UPI00000326A1	147					SNV	GDNF,missense_variant,p.Gly147Ser,ENST00000326524,NM_000514.3;GDNF,missense_variant,p.Gly121Ser,ENST00000344622,NM_199231.2,NM_001278098.1;GDNF,missense_variant,p.Gly164Ser,ENST00000427982,NM_001190468.1;GDNF,missense_variant,p.Gly138Ser,ENST00000381826,NM_001190469.1;GDNF,missense_variant,p.Gly121Ser,ENST00000515058,;GDNF,downstream_gene_variant,,ENST00000502572,;GDNF,downstream_gene_variant,,ENST00000510177,;	uc011cpi.1	c.439G>A	639/3810	1	1			c.439G>A						5	SNP	c.(439-441)GGC>AGC	16	16				0	Broad	glial cell derived neurotrophic factor isoform 1			37815950		0.443	ENSG00000168621	6209	g.chr5:37815950C>T	adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity							-30.933352	KEEP	4	0	-1	90	68	4	0	-1	8.224259	90	68	0.025478	1	0	0	0	0	1	0	0	0	--	--		0	T			GDNF_uc011cpc.1_Missense_Mutation_p.G69S|GDNF_uc011cpd.1_Missense_Mutation_p.G95S|GDNF_uc011cpe.1_Missense_Mutation_p.G121S|GDNF_uc011cpf.1_Missense_Mutation_p.G121S|GDNF_uc011cpg.1_Missense_Mutation_p.G164S|GDNF_uc011cph.1_Missense_Mutation_p.G138S	128	GBM-12-3653-TP	p.G147S	C	TCGCAAGAGCCGCTGCAGTAC	NM_000514	NP_000505	37815950	P39905	GDNF_HUMAN	0			3	639	-	T	T	all_lung(31;0.00118)		Missense_Mutation	147						
GDNF	0	broad.mit.edu	GRCh37	5	37816010	37816010	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01	TCGA-19-5951-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326524.2:c.379G>A	p.Val127Ile	p.V127I	ENST00000326524	NM_000514.3	127	Gtc/Atc	0			1			T	V/I	uc011cpi.1	protein_coding		CCDS3922.1			379/636										0	c.(379-381)GTC>ATC			PROSITE_profiles:PS51362,hmmpanther:PTHR12173,hmmpanther:PTHR12173:SF1,Gene3D:2.10.90.10,Pfam_domain:PF00019,SMART_domains:SM00204,PIRSF_domain:PIRSF016238,Superfamily_domains:SSF57501	glial cell derived neurotrophic factor isoform 1				ENSP00000317145		3-Mar									COSM2156663,COSM2156662	3-Mar	.		ENST00000326524	Transcript	1		adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity	ENSG00000168621	g.chr5:37816010C>T	4232			MODERATE		2.545	medium	getma.org/?cm=msa&ty=f&p=GDNF_HUMAN&rb=115&re=211&var=V127I	getma.org/pdb.php?prot=GDNF_HUMAN&from=115&to=211&var=V127I	getma.org/?cm=var&var=hg19,5,37816010,C,T&fts=all	V127I	--	--	1																																		GDNF_uc011cpc.1_Missense_Mutation_p.V49I|GDNF_uc011cpd.1_Missense_Mutation_p.V75I|GDNF_uc011cpe.1_Missense_Mutation_p.V101I|GDNF_uc011cpf.1_Missense_Mutation_p.V101I|GDNF_uc011cpg.1_Missense_Mutation_p.V144I|GDNF_uc011cph.1_Missense_Mutation_p.V118I	1,1			probably_damaging(0.998)	p.V127I	NM_000514	NP_000505		tolerated(0.05)	1,1	GDNF_HUMAN	GDNF	HGNC	P39905	GDNF_HUMAN					3	579	-	all_lung(31;0.00118)		UPI00000326A1	127					SNV	GDNF,missense_variant,p.Val127Ile,ENST00000326524,NM_000514.3;GDNF,missense_variant,p.Val101Ile,ENST00000344622,NM_199231.2,NM_001278098.1;GDNF,missense_variant,p.Val144Ile,ENST00000427982,NM_001190468.1;GDNF,missense_variant,p.Val118Ile,ENST00000381826,NM_001190469.1;GDNF,missense_variant,p.Val101Ile,ENST00000515058,;GDNF,downstream_gene_variant,,ENST00000502572,;GDNF,downstream_gene_variant,,ENST00000510177,;	uc011cpi.1	c.379G>A	579/3810	2	2			c.379G>A						5	SNP	c.(379-381)GTC>ATC	24	24				0	Broad	glial cell derived neurotrophic factor isoform 1			37816010		0.493	ENSG00000168621	6209	g.chr5:37816010C>T	adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity							88.337387	KEEP	23	14	-1	33	40	23	14	-1	90.530506	33	40	0.340206	1	0	0	0	0	1	0	0	0	--	--		0	T			GDNF_uc011cpc.1_Missense_Mutation_p.V49I|GDNF_uc011cpd.1_Missense_Mutation_p.V75I|GDNF_uc011cpe.1_Missense_Mutation_p.V101I|GDNF_uc011cpf.1_Missense_Mutation_p.V101I|GDNF_uc011cpg.1_Missense_Mutation_p.V144I|GDNF_uc011cph.1_Missense_Mutation_p.V118I	171	GBM-19-5951-TP	p.V127I	C	AAGTCAGTGACATTTAAATGT	NM_000514	NP_000505	37816010	P39905	GDNF_HUMAN	0			3	579	-	T	T	all_lung(31;0.00118)		Missense_Mutation	127						
GDPD2	0	broad.mit.edu	GRCh37	X	69652284	69652284	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374382.3:c.1435C>T	p.Arg479Cys	p.R479C	ENST00000374382	NM_017711.3	479	Cgt/Tgt	0			1			T	R/C	uc004dyh.2	protein_coding		CCDS14402.1			1435/1620									ovary(2)	2	c.(1435-1437)CGT>TGT			Gene3D:3.20.20.190,PROSITE_profiles:PS51704,hmmpanther:PTHR23344,hmmpanther:PTHR23344:SF1	osteoblast differentiation promoting factor				ENSP00000363503		13/16	8.24E-06							0.000102	rs745627490,COSM194957,COSM3095014	13/16	.		ENST00000374382	Transcript			glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding	ENSG00000130055	g.chrX:69652284C>T	25974			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=GDPD2_HUMAN&rb=390&re=539&var=R479C	NA	getma.org/?cm=var&var=hg19,X,69652284,C,T&fts=all	R479C	--	--	1																																		GDPD2_uc010nky.1_3'UTR|GDPD2_uc011mpk.1_Missense_Mutation_p.R530C|GDPD2_uc011mpl.1_Missense_Mutation_p.R400C|GDPD2_uc011mpm.1_Missense_Mutation_p.R400C	0,1,1			benign(0.368)	p.R479C	NM_017711	NP_060181		deleterious(0.01)	0,1,1	GDPD2_HUMAN	GDPD2	HGNC	Q9HCC8	GDPD2_HUMAN					13	1686	+	Renal(35;0.156)		UPI000004C627	479			Extracellular (Potential).		SNV	GDPD2,missense_variant,p.Arg530Cys,ENST00000453994,NM_001171192.1;GDPD2,missense_variant,p.Arg400Cys,ENST00000536730,NM_001171193.1;GDPD2,missense_variant,p.Arg479Cys,ENST00000374382,NM_017711.3;GDPD2,missense_variant,p.Arg400Cys,ENST00000538649,NM_001171191.1;GDPD2,non_coding_transcript_exon_variant,,ENST00000472623,;	uc004dyh.2	c.1435C>T	1686/2169	1	1			c.1435C>T						23	SNP	c.(1435-1437)CGT>TGT	4	4			ovary(2)	2	Broad	osteoblast differentiation promoting factor			69652284		0.522	ENSG00000130055	6211	g.chrX:69652284C>T	glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding							229.494211	KEEP	45	46	-1	30	34	45	46	-1	230.348489	30	34	0.587302	1	0	0	0	0	1	0	0	0	--	--		0	T			GDPD2_uc010nky.1_3'UTR|GDPD2_uc011mpk.1_Missense_Mutation_p.R530C|GDPD2_uc011mpl.1_Missense_Mutation_p.R400C|GDPD2_uc011mpm.1_Missense_Mutation_p.R400C	207	GBM-28-1753-TP	p.R479C	C	GCAGCAGATGCGTTACCCTAT	NM_017711	NP_060181	69652284	Q9HCC8	GDPD2_HUMAN	0			13	1686	+	T	T	Renal(35;0.156)		Missense_Mutation	479			Extracellular (Potential).			
GDPD3	0	broad.mit.edu	GRCh37	16	30124034	30124036	+	inframe_deletion	In_Frame_Del	DEL	TCA	TCA	-			TCGA-19-5954-01	TCGA-19-5954-01	TCA	TCA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000406256.3:c.261_263delTGA	p.Asp87del	p.D87del	ENST00000406256	NM_024307.2	87	gaTGAg/gag	0			1			-	DE/E	uc002dwp.2	protein_coding	YES	CCDS10671.2			261-263/957										0	c.(259-264)GATGAG>GAG			Gene3D:3.20.20.190,Pfam_domain:PF03009,PROSITE_profiles:PS51704,hmmpanther:PTHR23344,hmmpanther:PTHR23344:SF12,Superfamily_domains:SSF51695	glycerophosphodiester phosphodiesterase domain				ENSP00000384363		10-Mar									COSM2156748	10-Mar	.		ENST00000406256	Transcript			glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	ENSG00000102886	g.chr16:30124034_30124036delTCA	28638			MODERATE								--	--	1																																OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.2_In_Frame_Del_p.D25del|LOC100271831_uc010vei.1_5'Flank	1	1			p.D87del	NM_024307	NP_077283			1	GDPD3_HUMAN	GDPD3	HGNC	Q7L5L3	GDPD3_HUMAN					3	340_342	-			UPI00001FFEC4	87			Extracellular (Potential).|GDPD.		deletion	GDPD3,inframe_deletion,p.Asp87del,ENST00000406256,NM_024307.2;MAPK3,downstream_gene_variant,,ENST00000484663,;MAPK3,downstream_gene_variant,,ENST00000403394,;MAPK3,downstream_gene_variant,,ENST00000263025,NM_002746.2;MAPK3,downstream_gene_variant,,ENST00000322266,NM_001109891.1;MAPK3,downstream_gene_variant,,ENST00000395199,NM_001040056.2;MAPK3,downstream_gene_variant,,ENST00000395202,;MAPK3,downstream_gene_variant,,ENST00000395200,;MAPK3,downstream_gene_variant,,ENST00000478356,;GDPD3,upstream_gene_variant,,ENST00000566613,;RP11-455F5.4,downstream_gene_variant,,ENST00000566190,;MAPK3,downstream_gene_variant,,ENST00000494643,;GDPD3,non_coding_transcript_exon_variant,,ENST00000360688,;MAPK3,downstream_gene_variant,,ENST00000466521,;MAPK3,downstream_gene_variant,,ENST00000490298,;MAPK3,downstream_gene_variant,,ENST00000485579,;MAPK3,downstream_gene_variant,,ENST00000461737,;GDPD3,upstream_gene_variant,,ENST00000565704,;GDPD3,upstream_gene_variant,,ENST00000566434,;MAPK3,downstream_gene_variant,,ENST00000473431,;	uc002dwp.2	c.261_263delTGA	639-641/1397	5	5			c.261_263delTGA						16	DEL	c.(259-264)GATGAG>GAG	42	42				0	Broad	glycerophosphodiester phosphodiesterase domain			30124036		0.645	ENSG00000102886	6212	g.chr16:30124034_30124036delTCA	glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding																				0.28	1	1	0	1	0	0	0	0	0	--	--		0	-	OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.2_In_Frame_Del_p.D25del|LOC100271831_uc010vei.1_5'Flank	174	GBM-19-5954-TP	p.D87del	TCA	GCACAGGTTCTCATCATGTGACA	NM_024307	NP_077283	30124034	Q7L5L3	GDPD3_HUMAN	0			3	340_342	-	-	-			In_Frame_Del	87			Extracellular (Potential).|GDPD.			
GDPD3	0	broad.mit.edu	GRCh37	16	30123709	30123709	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs76435425		TCGA-76-4926-01	TCGA-76-4926-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000406256.3:c.401G>A	p.Arg134His	p.R134H	ENST00000406256	NM_024307.2	134	cGt/cAt	0	T:0	T:0	1	T:0		T	R/H	uc002dwp.2	protein_coding	YES	CCDS10671.2			401/957										0	c.(400-402)CGT>CAT			Gene3D:3.20.20.190,Pfam_domain:PF03009,PROSITE_profiles:PS51704,hmmpanther:PTHR23344,hmmpanther:PTHR23344:SF12,Superfamily_domains:SSF51695	glycerophosphodiester phosphodiesterase domain		T:0.002	T:0.0001	ENSP00000384363	T:0	10-May	0.000231			0.000231	0.00106	0.000285			rs76435425,COSM3402265	10-May	common_variant		ENST00000406256	Transcript		T:0.0004	glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	ENSG00000102886	g.chr16:30123709C>T	28638			MODERATE		2.31	medium	getma.org/?cm=msa&ty=f&p=GDPD3_HUMAN&rb=44&re=303&var=R134H	getma.org/pdb.php?prot=GDPD3_HUMAN&from=44&to=303&var=R134H	getma.org/?cm=var&var=hg19,16,30123709,C,T&fts=all	R134H	--	--	1																																OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.2_Missense_Mutation_p.R72H|LOC100271831_uc010vei.1_5'Flank	0,1	1		possibly_damaging(0.903)	p.R134H	NM_024307	NP_077283	T:0	tolerated(0.06)	0,1	GDPD3_HUMAN	GDPD3	HGNC	Q7L5L3	GDPD3_HUMAN					5	480	-			UPI00001FFEC4	134			Extracellular (Potential).|GDPD.		SNV	GDPD3,missense_variant,p.Arg134His,ENST00000406256,NM_024307.2;MAPK3,downstream_gene_variant,,ENST00000484663,;MAPK3,downstream_gene_variant,,ENST00000403394,;MAPK3,downstream_gene_variant,,ENST00000263025,NM_002746.2;MAPK3,downstream_gene_variant,,ENST00000322266,NM_001109891.1;MAPK3,downstream_gene_variant,,ENST00000395199,NM_001040056.2;MAPK3,downstream_gene_variant,,ENST00000395202,;MAPK3,downstream_gene_variant,,ENST00000395200,;MAPK3,downstream_gene_variant,,ENST00000478356,;GDPD3,upstream_gene_variant,,ENST00000566613,;RP11-455F5.4,downstream_gene_variant,,ENST00000566190,;MAPK3,downstream_gene_variant,,ENST00000494643,;GDPD3,non_coding_transcript_exon_variant,,ENST00000360688,;MAPK3,downstream_gene_variant,,ENST00000466521,;MAPK3,downstream_gene_variant,,ENST00000490298,;MAPK3,downstream_gene_variant,,ENST00000485579,;MAPK3,downstream_gene_variant,,ENST00000461737,;GDPD3,upstream_gene_variant,,ENST00000565704,;GDPD3,upstream_gene_variant,,ENST00000566434,;MAPK3,downstream_gene_variant,,ENST00000473431,;	uc002dwp.2	c.401G>A	779/1397	2	2			c.401G>A						16	SNP	c.(400-402)CGT>CAT	43	43				0	Broad	glycerophosphodiester phosphodiesterase domain			30123709		0.602	ENSG00000102886	6212	g.chr16:30123709C>T	glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding							162.237341	KEEP	36	43	-1	72	69	36	43	-1	166.351772	72	69	0.342246	1	0	0	0	0	1	0	0	0	--	--		0	T	OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.2_Missense_Mutation_p.R72H|LOC100271831_uc010vei.1_5'Flank	266	GBM-76-4926-TP	p.R134H	C	GTCCTCCAGACGAACCATGCG	NM_024307	NP_077283	30123709	Q7L5L3	GDPD3_HUMAN	0			5	480	-	T	T			Missense_Mutation	134			Extracellular (Potential).|GDPD.			
GDPD4	220032	broad.mit.edu	GRCh37	11	76956338	76956338	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0158-01	TCGA-06-0158-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315938.4:c.1074C>T	p.Ile358=	p.I358=	ENST00000315938	NM_182833.1	358	atC/atT	0			1			A	I	uc001oyf.2	protein_coding					1074/1872									skin(1)	1	c.(1072-1074)ATC>ATT			Gene3D:3.20.20.190,PROSITE_profiles:PS51704,hmmpanther:PTHR23344,hmmpanther:PTHR23344:SF13,Superfamily_domains:SSF51695	glycerophosphodiester phosphodiesterase domain				ENSP00000365390		17-Nov	4.94E-05					3.00E-05		0.000243	rs766657500,COSM2150108,COSM3398145	17-Nov	.		ENST00000376217	Transcript			glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	ENSG00000178795	g.chr11:76956338G>A	24849			LOW								--	--	1																																			0,1,1				p.I358I	NM_182833	NP_878253			0,1,1	GDPD4_HUMAN	GDPD4	HGNC	Q6W3E5	GDPD4_HUMAN					11	1325	-			UPI00001C1220	358			GDPD.|Extracellular (Potential).		SNV	GDPD4,synonymous_variant,p.=,ENST00000315938,NM_182833.1;GDPD4,synonymous_variant,p.=,ENST00000376217,;	uc001oyf.2	c.1074C>T	1325/2502	2	2			c.1074C>T						11	SNP	c.(1072-1074)ATC>ATT	28	28			skin(1)	1	Broad	glycerophosphodiester phosphodiesterase domain			76956338		0.438	ENSG00000178795	6213	g.chr11:76956338G>A	glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding							155.387629	KEEP	26	33	-1	70	61	26	33	-1	160.961476	70	61	0.310345	1	0	0	0	0	0	0	1	0	--	--		0	A				29	GBM-06-0158-TP	p.I358I	G	GATGTTGCTCGATTTTAGAGG	NM_182833	NP_878253	76956338	Q6W3E5	GDPD4_HUMAN	0			11	1325	-	A	A			Silent	358			GDPD.|Extracellular (Potential).			
GDPD4	220032		GRCh37	11	76990356	76990356	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000315938.4:c.142C>T	p.Leu48=	p.L48=	ENST00000315938	NM_182833.1	48	Ctg/Ttg	0																																																																																																																																																																																																																																												
GDPD5	0	broad.mit.edu	GRCh37	11	75160035	75160035	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01	TCGA-28-5216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336898.3:c.701G>A	p.Arg234His	p.R234H	ENST00000336898	NM_030792.6	234	cGc/cAc	0			1			T	R/H	uc001owo.3	protein_coding	YES	CCDS8238.1			701/1818									ovary(1)	1	c.(700-702)CGC>CAC			Gene3D:3.20.20.190,Pfam_domain:PF03009,PROSITE_profiles:PS51704,hmmpanther:PTHR23344,hmmpanther:PTHR23344:SF6,Superfamily_domains:SSF51695	glycerophosphodiester phosphodiesterase domain				ENSP00000337972		17-Sep									COSM690664	17-Sep	.		ENST00000336898	Transcript			glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	ENSG00000158555	g.chr11:75160035C>T	28804			MODERATE		4.075	high	getma.org/?cm=msa&ty=f&p=GDPD5_HUMAN&rb=233&re=376&var=R234H	getma.org/pdb.php?prot=GDPD5_HUMAN&from=233&to=376&var=R234H	getma.org/?cm=var&var=hg19,11,75160035,C,T&fts=all	R234H	--	--	1																																		GDPD5_uc001owp.3_Missense_Mutation_p.R234H|GDPD5_uc001own.3_5'UTR|GDPD5_uc009yuc.2_Missense_Mutation_p.R96H|GDPD5_uc009yud.2_Missense_Mutation_p.R115H|GDPD5_uc009yue.1_Missense_Mutation_p.R122H	1	1		probably_damaging(0.973)	p.R234H	NM_030792	NP_110419		deleterious(0)	1	GDPD5_HUMAN	GDPD5	HGNC	Q8WTR4	GDPD5_HUMAN			E9PJU5_HUMAN		10	1238	-			UPI000013FB97	234			Extracellular (Potential).|GDPD.		SNV	GDPD5,missense_variant,p.Arg96His,ENST00000526177,;GDPD5,missense_variant,p.Arg234His,ENST00000336898,NM_030792.6;GDPD5,missense_variant,p.Arg234His,ENST00000529721,;GDPD5,missense_variant,p.Arg115His,ENST00000376282,;GDPD5,missense_variant,p.Arg115His,ENST00000533784,;GDPD5,3_prime_UTR_variant,,ENST00000443276,;GDPD5,5_prime_UTR_variant,,ENST00000533805,;GDPD5,non_coding_transcript_exon_variant,,ENST00000527322,;GDPD5,non_coding_transcript_exon_variant,,ENST00000533911,;GDPD5,3_prime_UTR_variant,,ENST00000527820,;	uc001owo.3	c.701G>A	1539/3523	2	2			c.701G>A						11	SNP	c.(700-702)CGC>CAC	43	43			ovary(1)	1	Broad	glycerophosphodiester phosphodiesterase domain			75160035		0.607	ENSG00000158555	6214	g.chr11:75160035C>T	glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity							83.873765	KEEP	22	15	-1	16	20	22	15	-1	83.877601	16	20	0.508772	1	0	0	0	0	1	0	0	0	--	--		0	T			GDPD5_uc001owp.3_Missense_Mutation_p.R234H|GDPD5_uc001own.3_5'UTR|GDPD5_uc009yuc.2_Missense_Mutation_p.R96H|GDPD5_uc009yud.2_Missense_Mutation_p.R115H|GDPD5_uc009yue.1_Missense_Mutation_p.R122H	223	GBM-28-5216-TP	p.R234H	C	GGGGGCCCCGCGGTGGCCAAT	NM_030792	NP_110419	75160035	Q8WTR4	GDPD5_HUMAN	0			10	1238	-	T	T			Missense_Mutation	234			Extracellular (Potential).|GDPD.			
GDPGP1	390637	broad.mit.edu	GRCh37	15	90784827	90784827	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0644-01	TCGA-06-0644-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000558017.1:c.687C>T	p.Pro229=	p.P229=	ENST00000558017	NM_001013657.2	229	ccC/ccT	0			1			T	P	uc002bpc.2	protein_coding		CCDS32327.1			687/1158										0	c.(685-687)CCC>CCT			hmmpanther:PTHR20884	hypothetical protein LOC390637				ENSP00000368405		1-Jan									COSM2151223	1-Jan	.		ENST00000329600	Transcript			glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity	ENSG00000183208	g.chr15:90784827C>T	34360			LOW								--	--	1																																			1				p.P229P	NM_001013657	NP_001013679			1	GDPP1_HUMAN	GDPGP1	HGNC	Q6ZNW5	VTC2_HUMAN			H0YN11_HUMAN,H0YL31_HUMAN		4	866	+			UPI00002378F3	229					SNV	GDPGP1,synonymous_variant,p.=,ENST00000558017,NM_001013657.2;GDPGP1,synonymous_variant,p.=,ENST00000329600,;GDPGP1,downstream_gene_variant,,ENST00000559204,;GDPGP1,downstream_gene_variant,,ENST00000558291,;GDPGP1,downstream_gene_variant,,ENST00000561433,;RP11-697E2.4,upstream_gene_variant,,ENST00000565730,;	uc002bpc.2	c.687C>T	687/1158	2	2			c.687C>T						15	SNP	c.(685-687)CCC>CCT	20	20				0	Broad	hypothetical protein LOC390637			90784827		0.637	ENSG00000183208	1767	g.chr15:90784827C>T	glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity							75.494889	KEEP	18	12	-1	28	27	18	12	-1	76.447651	28	27	0.375	1	0	0	0	0	0	0	1	0	--	--		0	T				58	GBM-06-0644-TP	p.P229P	C	ACAGACTGCCCGTGGAGCAGG	NM_001013657	NP_001013679	90784827	Q6ZNW5	VTC2_HUMAN	0			4	866	+	T	T			Silent	229						
GEM	2669	broad.mit.edu	GRCh37	8	95262754	95262754	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5408-01	TCGA-06-5408-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297596.2:c.675G>A	p.Gln225=	p.Q225=	ENST00000297596	NM_005261.3	225	caG/caA	0			1			T	Q	uc003ygj.2	protein_coding	YES	CCDS6261.1			675/891									lung(1)	1	c.(673-675)CAG>CAA			PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF192,hmmpanther:PTHR24070,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,Gene3D:3.40.50.300,SMART_domains:SM00174,SMART_domains:SM00175,PIRSF_domain:PIRSF038017,SMART_domains:SM00173,Superfamily_domains:SSF52540,Prints_domain:PR00449	GTP-binding mitogen-induced T-cell protein				ENSP00000297596		5-May									COSM3413165	5-May	.		ENST00000297596	Transcript			cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding	ENSG00000164949	g.chr8:95262754C>T	4234			LOW								--	--	1																																		GEM_uc003ygi.2_Silent_p.Q225Q	1	1			p.Q225Q	NM_005261	NP_005252			1	GEM_HUMAN	GEM	HGNC	P55040	GEM_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		E5RJF9_HUMAN		5	924	-	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	UPI000012B3BC	225					SNV	GEM,synonymous_variant,p.=,ENST00000297596,NM_005261.3;GEM,synonymous_variant,p.=,ENST00000396194,NM_181702.2;	uc003ygj.2	c.675G>A	940/2208	2	2			c.675G>A						8	SNP	c.(673-675)CAG>CAA	30	30			lung(1)	1	Broad	GTP-binding mitogen-induced T-cell protein			95262754		0.562	ENSG00000164949	6216	g.chr8:95262754C>T	cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding	GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)			GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)			4.370818	KEEP	3	2	-1	13	26	3	2	-1	10.005588	13	26	0.108108	1	0	0	0	0	0	0	1	0	--	--		0	T			GEM_uc003ygi.2_Silent_p.Q225Q	92	GBM-06-5408-TP	p.Q225Q	C	TCACGTTGTGCTGGACAGCTG	NM_005261	NP_005252	95262754	P55040	GEM_HUMAN	0	BRCA - Breast invasive adenocarcinoma(8;0.00691)		5	924	-	T	T	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	Silent	225						
GEM	0	broad.mit.edu	GRCh37	8	95264452	95264452	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T			TCGA-14-0740-01	TCGA-14-0740-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297596.2:c.409-1G>A		p.X137_splice	ENST00000297596	NM_005261.3			0			1			T		uc003ygj.2	protein_coding	YES	CCDS6261.1			409/891									lung(1)	1	c.e4-1				GTP-binding mitogen-induced T-cell protein				ENSP00000297596											COSM3413166		.		ENST00000297596	Transcript			cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding	ENSG00000164949	g.chr8:95264452C>T	4234			HIGH	4-Mar							--	--	1																																		GEM_uc003ygi.2_Splice_Site_p.G137_splice	1	1			p.G137_splice	NM_005261	NP_005252			1	GEM_HUMAN	GEM	HGNC	P55040	GEM_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		E5RJF9_HUMAN		4	658	-	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	UPI000012B3BC						SNV	GEM,splice_acceptor_variant,,ENST00000297596,NM_005261.3;GEM,splice_acceptor_variant,,ENST00000396194,NM_181702.2;	uc003ygj.2	c.409_splice	-/2208	5	1			c.409_splice						8	SNP	c.e4-1	5	5			lung(1)	1	Broad	GTP-binding mitogen-induced T-cell protein			95264452		0.453	ENSG00000164949	6216	g.chr8:95264452C>T	cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding	GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)			GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)			94.171925	KEEP	16	14	-1	17	17	16	14	-1	94.186479	17	17	0.483333	1	0	0	0	0	0	0	0	1	--	--		0	T			GEM_uc003ygi.2_Splice_Site_p.G137_splice	132	GBM-14-0740-TP	p.G137_splice	C	CATTTTCCCCCTAATGAAACA	NM_005261	NP_005252	95264452	P55040	GEM_HUMAN	0	BRCA - Breast invasive adenocarcinoma(8;0.00691)		4	658	-	T	T	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	Splice_Site							
GEMIN4	50628	broad.mit.edu	GRCh37	17	649261	649261	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-5418-01	TCGA-06-5418-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319004.5:c.2022C>A	p.Phe674Leu	p.F674L	ENST00000319004	NM_015721.2	674	ttC/ttA	0			1			T	F/L	uc002frs.1	protein_coding	YES	CCDS45559.1			2022/3177									ovary(2)|kidney(1)|skin(1)	4	c.(2020-2022)TTC>TTA			hmmpanther:PTHR15571,hmmpanther:PTHR15571:SF2	gemin 4				ENSP00000321706		2-Feb									COSM3403131,COSM3403130	2-Feb	.		ENST00000319004	Transcript			rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	ENSG00000179409	g.chr17:649261G>T	15717			MODERATE		0.29	neutral	getma.org/?cm=msa&ty=f&p=GEMI4_HUMAN&rb=1&re=1056&var=F674L	NA	getma.org/?cm=var&var=hg19,17,649261,G,T&fts=all	F674L	--	--	1																																			1,1	1		benign(0.006)	p.F674L	NM_015721	NP_056536		tolerated(1)	1,1	GEMI4_HUMAN	GEMIN4	HGNC	P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	I3L4M4_HUMAN,I3L2C7_HUMAN		2	2141	-		Myeloproliferative disorder(207;0.204)	UPI000020001F	674					SNV	GEMIN4,missense_variant,p.Phe663Leu,ENST00000576778,;GEMIN4,missense_variant,p.Phe674Leu,ENST00000319004,NM_015721.2;FAM57A,downstream_gene_variant,,ENST00000308278,NM_024792.1;FAM57A,downstream_gene_variant,,ENST00000301324,;GEMIN4,downstream_gene_variant,,ENST00000437269,;GEMIN4,downstream_gene_variant,,ENST00000570364,;GEMIN4,downstream_gene_variant,,ENST00000573482,;FAM57A,downstream_gene_variant,,ENST00000577008,;GEMIN4,downstream_gene_variant,,ENST00000574958,;GEMIN4,downstream_gene_variant,,ENST00000576383,;FAM57A,downstream_gene_variant,,ENST00000572018,;FAM57A,downstream_gene_variant,,ENST00000570892,;FAM57A,downstream_gene_variant,,ENST00000570699,;	uc002frs.1	c.2022C>A	2141/3748	2	2			c.2022C>A						17	SNP	c.(2020-2022)TTC>TTA	26	26			ovary(2)|kidney(1)|skin(1)	4	Broad	gemin 4			649261		0.537	ENSG00000179409	6217	g.chr17:649261G>T	rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding							53.273002	KEEP	6	14	0.3	19	28	6	14	0.3	55.278084	19	28	0.3125	1	0	0	0	0	1	0	0	0	--	--		0	T				100	GBM-06-5418-TP	p.F674L	G	GAGTCTGGATGAAGATCCTCA	NM_015721	NP_056536	649261	P57678	GEMI4_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	2	2141	-	T	T		Myeloproliferative disorder(207;0.204)	Missense_Mutation	674						
GEMIN5	0	broad.mit.edu	GRCh37	5	154275813	154275813	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-4209-01	TCGA-32-4209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285873.7:c.3436C>G	p.His1146Asp	p.H1146D	ENST00000285873	NM_001252156.1	1146	Cac/Gac	0			1			C	H/D	uc003lvx.3	protein_coding	YES	CCDS4330.1			3436/4527									skin(2)|ovary(1)	3	c.(3436-3438)CAC>GAC				gemin 5				ENSP00000285873		24/28									COSM3410033	24/28	.		ENST00000285873	Transcript			ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	ENSG00000082516	g.chr5:154275813G>C	20043			MODERATE		1.955	medium	getma.org/?cm=msa&ty=f&p=GEMI5_HUMAN&rb=729&re=1505&var=H1146D	NA	getma.org/?cm=var&var=hg19,5,154275813,G,C&fts=all	H1146D	--	--	1																																		GEMIN5_uc011ddk.1_Missense_Mutation_p.H1145D	1	1		benign(0.371)	p.H1146D	NM_015465	NP_056280		deleterious(0.03)	1	GEMI5_HUMAN	GEMIN5	HGNC	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		Q58EZ8_HUMAN		24	3519	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	UPI000020D072	1146					SNV	GEMIN5,missense_variant,p.His1146Asp,ENST00000285873,NM_001252156.1,NM_015465.4;GEMIN5,upstream_gene_variant,,ENST00000522075,;	uc003lvx.3	c.3436C>G	3512/5397	3	3			c.3436C>G						5	SNP	c.(3436-3438)CAC>GAC	64	64			skin(2)|ovary(1)	3	Broad	gemin 5			154275813		0.547	ENSG00000082516	6218	g.chr5:154275813G>C	ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding							107.093816	KEEP	18	24	-1	40	90	18	24	-1	115.718296	40	90	0.25625	1	0	0	0	0	1	0	0	0	--	--		0	C			GEMIN5_uc011ddk.1_Missense_Mutation_p.H1145D	244	GBM-32-4209-TP	p.H1146D	G	TTCCAAGTGTGGTAAGAGGAG	NM_015465	NP_056280	154275813	Q8TEQ6	GEMI5_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		24	3519	-	C	C	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Missense_Mutation	1146						
GEMIN8	54960	broad.mit.edu	GRCh37	X	14027285	14027285	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-0055-01	TCGA-02-0055-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380523.4:c.476G>A	p.Arg159Gln	p.R159Q	ENST00000380523	NM_017856.2	159	cGg/cAg	0			1			T	R/Q	uc004cwb.2	protein_coding	YES	CCDS14159.1			476/729										0	c.(475-477)CGG>CAG			Low_complexity_(Seg):seg,hmmpanther:PTHR16238:SF7,hmmpanther:PTHR16238,Pfam_domain:PF15348	gem (nuclear organelle) associated protein 8				ENSP00000369895		5-May	1.65E-05							0.000106	rs749314407,COSM2149052	5-May	.		ENST00000380523	Transcript			spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding	ENSG00000046647	g.chrX:14027285C>T	26044			MODERATE		1.73	low	getma.org/?cm=msa&ty=f&p=GEMI8_HUMAN&rb=3&re=240&var=R159Q	NA	getma.org/?cm=var&var=hg19,X,14027285,C,T&fts=all	R159Q	--	--	1																																		GEMIN8_uc004cwc.2_Missense_Mutation_p.R159Q|GEMIN8_uc004cwd.2_Missense_Mutation_p.R159Q	0,1	1		benign(0.286)	p.R159Q	NM_017856	NP_060326		tolerated(0.06)	0,1	GEMI8_HUMAN	GEMIN8	HGNC	Q9NWZ8	GEMI8_HUMAN			H7BYE2_HUMAN		5	819	-			UPI0000070657	159			Potential.		SNV	GEMIN8,missense_variant,p.Arg159Gln,ENST00000380523,NM_017856.2;GEMIN8,missense_variant,p.Arg159Gln,ENST00000398355,;GEMIN8,missense_variant,p.Arg159Gln,ENST00000332885,;	uc004cwb.2	c.476G>A	795/1682	1	1			c.476G>A						23	SNP	c.(475-477)CGG>CAG	8	8				0	Broad	gem (nuclear organelle) associated protein 8			14027285		0.582	ENSG00000046647	6221	g.chrX:14027285C>T	spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding							241.971131	KEEP	45	56	-1	66	87	45	56	-1	243.486656	66	87	0.406091	1	0	0	0	0	1	0	0	0	--	--		0	T			GEMIN8_uc004cwc.2_Missense_Mutation_p.R159Q|GEMIN8_uc004cwd.2_Missense_Mutation_p.R159Q	4	GBM-02-0055-TP	p.R159Q	C	CTGCTGCTGCCGCCCTGAGAA	NM_017856	NP_060326	14027285	Q9NWZ8	GEMI8_HUMAN	0			5	819	-	T	T			Missense_Mutation	159			Potential.			
GEMIN8	54960	broad.mit.edu	GRCh37	X	14027172	14027172	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5417-01	TCGA-06-5417-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380523.4:c.589C>T	p.Arg197Cys	p.R197C	ENST00000380523	NM_017856.2	197	Cgc/Tgc	0			1			A	R/C	uc004cwb.2	protein_coding	YES	CCDS14159.1			589/729										0	c.(589-591)CGC>TGC			hmmpanther:PTHR16238:SF7,hmmpanther:PTHR16238,Pfam_domain:PF15348	gem (nuclear organelle) associated protein 8				ENSP00000369895		5-May									COSM2153298	5-May	.		ENST00000380523	Transcript			spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding	ENSG00000046647	g.chrX:14027172G>A	26044			MODERATE		2.465	medium	getma.org/?cm=msa&ty=f&p=GEMI8_HUMAN&rb=3&re=240&var=R197C	NA	getma.org/?cm=var&var=hg19,X,14027172,G,A&fts=all	R197C	--	--	1																																		GEMIN8_uc004cwc.2_Missense_Mutation_p.R197C|GEMIN8_uc004cwd.2_Missense_Mutation_p.R197C	1	1		benign(0.259)	p.R197C	NM_017856	NP_060326		deleterious(0.04)	1	GEMI8_HUMAN	GEMIN8	HGNC	Q9NWZ8	GEMI8_HUMAN			H7BYE2_HUMAN		5	932	-			UPI0000070657	197					SNV	GEMIN8,missense_variant,p.Arg197Cys,ENST00000380523,NM_017856.2;GEMIN8,missense_variant,p.Arg197Cys,ENST00000398355,;GEMIN8,downstream_gene_variant,,ENST00000332885,;	uc004cwb.2	c.589C>T	908/1682	1	1			c.589C>T						23	SNP	c.(589-591)CGC>TGC	56	56				0	Broad	gem (nuclear organelle) associated protein 8			14027172		0.612	ENSG00000046647	6221	g.chrX:14027172G>A	spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding							84.524876	KEEP	13	26	-1	58	45	13	26	-1	89.31398	58	45	0.289256	1	0	0	0	0	1	0	0	0	--	--		0	A			GEMIN8_uc004cwc.2_Missense_Mutation_p.R197C|GEMIN8_uc004cwd.2_Missense_Mutation_p.R197C	99	GBM-06-5417-TP	p.R197C	G	TCGGCCTGGCGCCGCTCACCA	NM_017856	NP_060326	14027172	Q9NWZ8	GEMI8_HUMAN	0			5	932	-	A	A			Missense_Mutation	197						
GFI1	2672	broad.mit.edu	GRCh37	1	92946526	92946526	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0686-01	TCGA-06-0686-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370332.1:c.418C>T	p.Arg140Ter	p.R140*	ENST00000370332	NM_001127215.1	140	Cga/Tga	0			1			A	R/*	uc001dou.3	protein_coding		CCDS30773.1			418/1269									large_intestine(1)	1	c.(418-420)CGA>TGA			hmmpanther:PTHR23228:SF106,hmmpanther:PTHR23228	growth factor independent 1				ENSP00000294702		7-Apr									COSM3401089	7-Apr	.		ENST00000294702	Transcript	1		negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	ENSG00000162676	g.chr1:92946526G>A	4237			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,92946526,G,A&fts=all	R140*	--	--	1																																		GFI1_uc001dov.3_Nonsense_Mutation_p.R140*|GFI1_uc001dow.3_Nonsense_Mutation_p.R140*	1				p.R140*	NM_001127215	NP_001120687			1	GFI1_HUMAN	GFI1	HGNC	Q99684	GFI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)	D3DT36_HUMAN		4	582	-		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)	UPI000006D7FD	140					SNV	GFI1,stop_gained,p.Arg140Ter,ENST00000370332,NM_001127215.1;GFI1,stop_gained,p.Arg140Ter,ENST00000294702,NM_005263.3;GFI1,stop_gained,p.Arg140Ter,ENST00000427103,NM_001127216.1;GFI1,downstream_gene_variant,,ENST00000483490,;	uc001dou.3	c.418C>T	668/2784	5	2			c.418C>T						1	SNP	c.(418-420)CGA>TGA	29	29			large_intestine(1)	1	Broad	growth factor independent 1			92946526		0.716	ENSG00000162676	6226	g.chr1:92946526G>A	negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding							68.785336	KEEP	9	12	-1	8	4	9	12	-1	69.476965	8	4	0.65625	1	0	0	0	0	0	1	0	0	--	--		0	A			GFI1_uc001dov.3_Nonsense_Mutation_p.R140*|GFI1_uc001dow.3_Nonsense_Mutation_p.R140*	64	GBM-06-0686-TP	p.R140*	G	CCACACGGTCGGTAGCTCTGC	NM_001127215	NP_001120687	92946526	Q99684	GFI1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)	4	582	-	A	A		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)	Nonsense_Mutation	140						
GFI1B	0	broad.mit.edu	GRCh37	9	135866288	135866288	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01	TCGA-06-6695-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339463.3:c.844G>A	p.Gly282Arg	p.G282R	ENST00000339463		282	Gga/Aga	0			1			A	G/R	uc004ccg.2	protein_coding	YES	CCDS6957.1			844/993									large_intestine(1)|ovary(1)|central_nervous_system(1)	3	c.(844-846)GGA>AGA			PROSITE_profiles:PS50157,hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF126,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	growth factor independent 1B transcription				ENSP00000344782		11-Nov	1.65E-05					3.01E-05			rs762113108,COSM3413407	11-Nov	.		ENST00000339463	Transcript	1		cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	ENSG00000165702	g.chr9:135866288G>A	4238			MODERATE		2.905	medium	getma.org/?cm=msa&ty=f&p=GFI1B_HUMAN&rb=242&re=307&var=G282R	getma.org/pdb.php?prot=GFI1B_HUMAN&from=262&to=287&var=G282R	getma.org/?cm=var&var=hg19,9,135866288,G,A&fts=all	G282R	--	--	1																																		GFI1B_uc010mzy.2_Missense_Mutation_p.G236R	0,1	1		probably_damaging(0.981)	p.G282R	NM_004188	NP_004179		deleterious(0)	0,1	GFI1B_HUMAN	GFI1B	HGNC	Q5VTD9	GFI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)			7	995	+			UPI000013E4EE	282			C2H2-type 5.|Mediates interaction with GATA1.|Interaction with ARIH2.		SNV	GFI1B,missense_variant,p.Gly282Arg,ENST00000339463,;GFI1B,missense_variant,p.Gly236Arg,ENST00000372124,;GFI1B,missense_variant,p.Gly282Arg,ENST00000450530,NM_004188.4;GFI1B,missense_variant,p.Gly282Arg,ENST00000372122,;GFI1B,missense_variant,p.Gly236Arg,ENST00000534944,NM_001135031.1;GFI1B,missense_variant,p.Gly236Arg,ENST00000372123,;	uc004ccg.2	c.844G>A	1663/2449	2	2			c.844G>A						9	SNP	c.(844-846)GGA>AGA	47	47			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Broad	growth factor independent 1B transcription			135866288		0.647	ENSG00000165702	6227	g.chr9:135866288G>A	cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding							28.003789	KEEP	9	8	-1	19	16	9	8	-1	30.330697	19	16	0.255814	1	0	0	0	0	1	0	0	0	--	--		0	A			GFI1B_uc010mzy.2_Missense_Mutation_p.G236R	110	GBM-06-6695-TP	p.G282R	G	CCAGGTGTGCGGAAAGGCCTT	NM_004188	NP_004179	135866288	Q5VTD9	GFI1B_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	7	995	+	A	A			Missense_Mutation	282			C2H2-type 5.|Mediates interaction with GATA1.|Interaction with ARIH2.			
GFI1B	0	broad.mit.edu	GRCh37	9	135863634	135863634	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs145562579		TCGA-26-5133-01	TCGA-26-5133-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339463.3:c.289G>A	p.Asp97Asn	p.D97N	ENST00000339463		97	Gac/Aac	0	A:0.0005	A:0.0008	1	A:0		A	D/N	uc004ccg.2	protein_coding	YES	CCDS6957.1			289/993									large_intestine(1)|ovary(1)|central_nervous_system(1)	3	c.(289-291)GAC>AAC			hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF126	growth factor independent 1B transcription		A:0	A:0	ENSP00000344782	A:0	11-Aug	0.00594	0.000769	0.000605			4.50E-05	0.00551	0.0423	rs145562579,COSM3212876	11-Aug	common_variant		ENST00000339463	Transcript	1	A:0.0118	cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	ENSG00000165702	g.chr9:135863634G>A	4238			MODERATE		0.41	neutral	getma.org/?cm=msa&ty=f&p=GFI1B_HUMAN&rb=78&re=176&var=D97N	NA	getma.org/?cm=var&var=hg19,9,135863634,G,A&fts=all	D97N	--	--	1																																		GFI1B_uc010mzy.2_Missense_Mutation_p.D97N	0,1	1		benign(0.001)	p.D97N	NM_004188	NP_004179	A:0.0593	tolerated(0.27)	0,1	GFI1B_HUMAN	GFI1B	HGNC	Q5VTD9	GFI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)			4	440	+			UPI000013E4EE	97			Interaction with ARIH2.		SNV	GFI1B,missense_variant,p.Asp97Asn,ENST00000339463,;GFI1B,missense_variant,p.Asp97Asn,ENST00000372124,;GFI1B,missense_variant,p.Asp97Asn,ENST00000450530,NM_004188.4;GFI1B,missense_variant,p.Asp97Asn,ENST00000372122,;GFI1B,missense_variant,p.Asp97Asn,ENST00000534944,NM_001135031.1;GFI1B,missense_variant,p.Asp97Asn,ENST00000372123,;	uc004ccg.2	c.289G>A	1108/2449	1	1			c.289G>A						9	SNP	c.(289-291)GAC>AAC	63	63			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Broad	growth factor independent 1B transcription			135863634		0.587	ENSG00000165702	6227	g.chr9:135863634G>A	cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding							-5.751025	KEEP	6	5	-1	72	76	6	5	-1	21.809411	72	76	0.069444	1	0	0	0	0	1	0	0	0	--	--		0	A			GFI1B_uc010mzy.2_Missense_Mutation_p.D97N	182	GBM-26-5133-TP	p.D97N	G	TCCACTGTCCGACTCACCCCC	NM_004188	NP_004179	135863634	Q5VTD9	GFI1B_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	4	440	+	A	A			Missense_Mutation	97			Interaction with ARIH2.			
GFM1	0	broad.mit.edu	GRCh37	3	158378683	158378683	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5952-01	TCGA-19-5952-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000486715.1:c.1242C>T	p.Ala414=	p.A414=	ENST00000486715	NM_024996.5	414	gcC/gcT	0			1			T	A	uc003fce.2	protein_coding	YES	CCDS33885.1			1242/2256									ovary(3)|central_nervous_system(1)	4	c.(1240-1242)GCC>GCT			Superfamily_domains:SSF50447,TIGRFAM_domain:TIGR00484,Gene3D:2.40.30.10,Pfam_domain:PF03144,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF66,HAMAP:MF_00054_B	G elongation factor, mitochondrial 1 precursor				ENSP00000419038		18-Oct	2.47E-05							0.000182	rs575709528,COSM2156676	18-Oct	.		ENST00000486715	Transcript	1		mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity	ENSG00000168827	g.chr3:158378683C>T	13780			LOW								--	--	1																																		GFM1_uc003fcd.2_Silent_p.A414A|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Silent_p.A345A	0,1	1			p.A414A	NM_024996	NP_079272			0,1	EFGM_HUMAN	GFM1	HGNC	Q96RP9	EFGM_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		E5KND5_HUMAN,C9JA25_HUMAN		10	1349	+			UPI000006232D	414					SNV	GFM1,synonymous_variant,p.=,ENST00000486715,NM_024996.5;GFM1,synonymous_variant,p.=,ENST00000264263,;GFM1,synonymous_variant,p.=,ENST00000478576,;LXN,intron_variant,,ENST00000482640,;GFM1,non_coding_transcript_exon_variant,,ENST00000490261,;GFM1,missense_variant,p.Pro415Leu,ENST00000478254,;GFM1,downstream_gene_variant,,ENST00000312756,;	uc003fce.2	c.1242C>T	1599/3721	1	1			c.1242C>T						3	SNP	c.(1240-1242)GCC>GCT	4	4			ovary(3)|central_nervous_system(1)	4	Broad	G elongation factor, mitochondrial 1 precursor			158378683		0.353	ENSG00000168827	6228	g.chr3:158378683C>T	mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity							149.748261	KEEP	27	25	-1	78	49	27	25	-1	154.608169	78	49	0.311688	1	0	0	0	0	0	0	1	0	--	--		0	T			GFM1_uc003fcd.2_Silent_p.A414A|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Silent_p.A345A	172	GBM-19-5952-TP	p.A414A	C	AAGTATATGCCGGAGACATCT	NM_024996	NP_079272	158378683	Q96RP9	EFGM_HUMAN	0	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		10	1349	+	T	T			Silent	414						
GFM2	84340	broad.mit.edu	GRCh37	5	74028894	74028894	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs139234343		TCGA-02-0047-01	TCGA-02-0047-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296805.3:c.1540C>T	p.Arg514Cys	p.R514C	ENST00000296805	NM_032380.4	514	Cgt/Tgt	0	A:0.0002	A:0.0008	1	A:0		A	R/C	uc003kdh.1	protein_coding	YES	CCDS4023.1			1540/2340										0	c.(1540-1542)CGT>TGT			hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF13,Gene3D:3.30.70.870,Pfam_domain:PF14492,Superfamily_domains:SSF54980	mitochondrial elongation factor G2 isoform 1		A:0	A:0	ENSP00000296805	A:0.001	16/21	4.12E-05	9.62E-05	8.66E-05			4.50E-05			rs139234343,COSM2149012	16/21	.		ENST00000296805	Transcript		A:0.0004	mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity	ENSG00000164347	g.chr5:74028894G>A	29682			MODERATE		2.66	medium	getma.org/?cm=msa&ty=f&p=RRF2M_HUMAN&rb=449&re=559&var=R514C	getma.org/pdb.php?prot=RRF2M_HUMAN&from=449&to=559&var=R514C	getma.org/?cm=var&var=hg19,5,74028894,G,A&fts=all	R514C	--	--	1																																		GFM2_uc003kdi.1_Missense_Mutation_p.R467C|GFM2_uc010izj.1_Missense_Mutation_p.R546C|GFM2_uc010izk.1_RNA	0,1	1		benign(0.052)	p.R514C	NM_032380	NP_115756	A:0	deleterious(0)	0,1	RRF2M_HUMAN	GFM2	HGNC	Q969S9	RRF2M_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)	D6RF75_HUMAN		16	1844	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)	UPI0000129CA7	514					SNV	GFM2,missense_variant,p.Arg514Cys,ENST00000296805,NM_032380.4;GFM2,missense_variant,p.Arg514Cys,ENST00000509430,NM_001281302.1;GFM2,missense_variant,p.Arg467Cys,ENST00000345239,NM_170691.2;GFM2,downstream_gene_variant,,ENST00000427854,NM_170681.2;GFM2,non_coding_transcript_exon_variant,,ENST00000515125,;GFM2,non_coding_transcript_exon_variant,,ENST00000514734,;GFM2,non_coding_transcript_exon_variant,,ENST00000506263,;	uc003kdh.1	c.1540C>T	1998/3249	2	2			c.1540C>T						5	SNP	c.(1540-1542)CGT>TGT	33	33				0	Broad	mitochondrial elongation factor G2 isoform 1			74028894		0.289	ENSG00000164347	6229	g.chr5:74028894G>A	mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity							77.20098	KEEP	27	14	-1	56	76	27	14	-1	85.780375	56	76	0.23913	1	0	0	0	0	1	0	0	0	--	--		0	A			GFM2_uc003kdi.1_Missense_Mutation_p.R467C|GFM2_uc010izj.1_Missense_Mutation_p.R546C|GFM2_uc010izk.1_RNA	3	GBM-02-0047-TP	p.R514C	G	GGATCTTCACGCTGAAGACAT	NM_032380	NP_115756	74028894	Q969S9	RRF2M_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)	16	1844	-	A	A		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)	Missense_Mutation	514						
GFM2	0	broad.mit.edu	GRCh37	5	74056813	74056813	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C			TCGA-27-1832-01	TCGA-27-1832-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296805.3:c.64-2A>G		p.X22_splice	ENST00000296805	NM_032380.4			0			1			C		uc003kdh.1	protein_coding	YES	CCDS4023.1			64/2340										0	c.e3-1				mitochondrial elongation factor G2 isoform 1				ENSP00000296805											COSM3410411		.		ENST00000296805	Transcript			mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity	ENSG00000164347	g.chr5:74056813T>C	29682			HIGH	20-Feb							--	--	1																																		GFM2_uc003kdi.1_Splice_Site_p.N22_splice|GFM2_uc010izj.1_Splice_Site_p.N54_splice|GFM2_uc010izk.1_Splice_Site|GFM2_uc003kdj.1_Splice_Site_p.N22_splice|GFM2_uc010izl.1_Splice_Site_p.N22_splice	1	1			p.N22_splice	NM_032380	NP_115756			1	RRF2M_HUMAN	GFM2	HGNC	Q969S9	RRF2M_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)	D6RF75_HUMAN		3	368	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)	UPI0000129CA7						SNV	GFM2,splice_acceptor_variant,,ENST00000296805,NM_032380.4;GFM2,splice_acceptor_variant,,ENST00000509430,NM_001281302.1;GFM2,splice_acceptor_variant,,ENST00000345239,NM_170691.2;GFM2,splice_acceptor_variant,,ENST00000427854,NM_170681.2;GFM2,splice_acceptor_variant,,ENST00000509097,;GFM2,splice_acceptor_variant,,ENST00000506778,;	uc003kdh.1	c.64_splice	-/3249	5	3			c.64_splice						5	SNP	c.e3-1	54	54				0	Broad	mitochondrial elongation factor G2 isoform 1			74056813		0.294	ENSG00000164347	6229	g.chr5:74056813T>C	mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity							-25.884044	KEEP	3	0	-1	63	67	3	0	-1	6.458063	63	67	0.023437	1	0	0	0	0	0	0	0	1	--	--		0	C			GFM2_uc003kdi.1_Splice_Site_p.N22_splice|GFM2_uc010izj.1_Splice_Site_p.N54_splice|GFM2_uc010izk.1_Splice_Site|GFM2_uc003kdj.1_Splice_Site_p.N22_splice|GFM2_uc010izl.1_Splice_Site_p.N22_splice	191	GBM-27-1832-TP	p.N22_splice	T	GCATATATTCTAGTAAAGAGA	NM_032380	NP_115756	74056813	Q969S9	RRF2M_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)	3	368	-	C	C		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)	Splice_Site							
GFOD2	0	broad.mit.edu	GRCh37	16	67709764	67709764	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2624-01	TCGA-19-2624-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268797.7:c.452G>A	p.Arg151His	p.R151H	ENST00000268797	NM_030819.3	151	cGc/cAc	0			1			T	R/H	uc002eub.2	protein_coding	YES	CCDS10845.1			452/1158									ovary(2)|skin(1)	3	c.(451-453)CGC>CAC			hmmpanther:PTHR22604,hmmpanther:PTHR22604:SF90,Gene3D:3.30.360.10,Superfamily_domains:SSF51735,Superfamily_domains:SSF55347	glucose-fructose oxidoreductase domain				ENSP00000268797		3-Mar	4.12E-05					7.51E-05			rs762598999,COSM3402431	3-Mar	.		ENST00000268797	Transcript				proteinaceous extracellular matrix	binding|oxidoreductase activity	ENSG00000141098	g.chr16:67709764C>T	28159			MODERATE		1.78	low	getma.org/?cm=msa&ty=f&p=GFOD2_HUMAN&rb=120&re=319&var=R151H	NA	getma.org/?cm=var&var=hg19,16,67709764,C,T&fts=all	R151H	--	--	1																																		GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Missense_Mutation_p.R46H	0,1	1		benign(0.033)	p.R151H	NM_030819	NP_110446		deleterious(0.02)	0,1	GFOD2_HUMAN	GFOD2	HGNC	Q3B7J2	GFOD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)			3	747	-		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	UPI000013D7DD	151					SNV	GFOD2,missense_variant,p.Arg151His,ENST00000268797,NM_030819.3;GFOD2,non_coding_transcript_exon_variant,,ENST00000602377,;GFOD2,downstream_gene_variant,,ENST00000602627,;GFOD2,non_coding_transcript_exon_variant,,ENST00000602522,;GFOD2,downstream_gene_variant,,ENST00000602279,;GFOD2,downstream_gene_variant,,ENST00000602496,NM_001243650.1;	uc002eub.2	c.452G>A	798/2126	1	1			c.452G>A						16	SNP	c.(451-453)CGC>CAC	7	7			ovary(2)|skin(1)	3	Broad	glucose-fructose oxidoreductase domain			67709764		0.592	ENSG00000141098	6231	g.chr16:67709764C>T		proteinaceous extracellular matrix	binding|oxidoreductase activity							-16.667676	KEEP	0	4	-1	47	56	0	4	-1	6.977805	47	56	0.038835	1	0	0	0	0	1	0	0	0	--	--		0	T			GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Missense_Mutation_p.R46H	164	GBM-19-2624-TP	p.R151H	C	TGAGTAGATGCGGGCATCACA	NM_030819	NP_110446	67709764	Q3B7J2	GFOD2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)	3	747	-	T	T		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	Missense_Mutation	151						
GFPT1	2673	broad.mit.edu	GRCh37	2	69583664	69583664	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0141-01	TCGA-06-0141-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357308.4:c.569A>G	p.Lys190Arg	p.K190R	ENST00000357308	NM_001244710.1	190	aAa/aGa	0			1			C	K/R	uc002sfh.2	protein_coding	YES	CCDS58713.1			569/2100									skin(1)	1	c.(568-570)AAA>AGA			Superfamily_domains:SSF56235,Gene3D:3.60.20.10,Pfam_domain:PF00310,hmmpanther:PTHR10937,hmmpanther:PTHR10937:SF2,PROSITE_profiles:PS51278	glucosamine-fructose-6-phosphate				ENSP00000349860		20-Jul									COSM3407947,COSM3407948	20-Jul	.		ENST00000357308	Transcript	1		dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	ENSG00000198380	g.chr2:69583664T>C	4241			MODERATE		2.875	medium	getma.org/?cm=msa&ty=f&p=GFPT1_HUMAN&rb=76&re=220&var=K190R	getma.org/pdb.php?prot=GFPT1_HUMAN&from=76&to=220&var=K190R	getma.org/?cm=var&var=hg19,2,69583664,T,C&fts=all	K190R	--	--	1																																		GFPT1_uc002sfi.1_Missense_Mutation_p.K32R	1,1	1		probably_damaging(0.912)	p.K190R	NM_002056	NP_002047		tolerated(0.07)	1,1	GFPT1_HUMAN	GFPT1	HGNC	Q06210	GFPT1_HUMAN					7	748	-			UPI000015C8AD	190			Glutamine amidotransferase type-2.		SNV	GFPT1,missense_variant,p.Lys190Arg,ENST00000357308,NM_001244710.1;GFPT1,missense_variant,p.Lys190Arg,ENST00000361060,NM_002056.3;GFPT1,non_coding_transcript_exon_variant,,ENST00000493759,;	uc002sfh.2	c.569A>G	748/8695	3	3			c.569A>G						2	SNP	c.(568-570)AAA>AGA	1	1			skin(1)	1	Broad	glucosamine-fructose-6-phosphate			69583664		0.358	ENSG00000198380	6232	g.chr2:69583664T>C	dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding							13.566763	KEEP	14	4	-1	106	98	14	4	-1	46.113074	106	98	0.085561	1	0	0	0	0	1	0	0	0	--	--		0	C			GFPT1_uc002sfi.1_Missense_Mutation_p.K32R	21	GBM-06-0141-TP	p.K190R	T	ATGAACACTTTTAAACACAAG	NM_002056	NP_002047	69583664	Q06210	GFPT1_HUMAN	0			7	748	-	C	C			Missense_Mutation	190			Glutamine amidotransferase type-2.			
GFPT2	0	broad.mit.edu	GRCh37	5	179731784	179731784	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-2518-01	TCGA-27-2518-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000253778.8:c.1830C>T	p.Val610=	p.V610=	ENST00000253778	NM_005110.2	610	gtC/gtT	0			1			A	V	uc003mlw.1	protein_coding	YES	CCDS43411.1			1830/2049									ovary(1)|skin(1)	2	c.(1828-1830)GTC>GTT			Gene3D:3.40.50.10490,Pfam_domain:PF01380,PROSITE_profiles:PS51464,hmmpanther:PTHR10937,hmmpanther:PTHR10937:SF10,Superfamily_domains:SSF53697,TIGRFAM_domain:TIGR01135	glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)			ENSP00000253778		17/19									COSM2157297	17/19	.		ENST00000253778	Transcript			dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	ENSG00000131459	g.chr5:179731784G>A	4242			LOW								--	--	1																																			1	1			p.V610V	NM_005110	NP_005101			1	GFPT2_HUMAN	GFPT2	HGNC	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		B3KM63_HUMAN		17	1928	-	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	UPI000014F5AC	610			SIS 2.		SNV	GFPT2,synonymous_variant,p.=,ENST00000253778,NM_005110.2;	uc003mlw.1	c.1830C>T	2000/3093	1	1			c.1830C>T						5	SNP	c.(1828-1830)GTC>GTT	54	54			ovary(1)|skin(1)	2	Broad	glutamine-fructose-6-phosphate transaminase 2		L-Glutamine(DB00130)	179731784		0.592	ENSG00000131459	6233	g.chr5:179731784G>A	dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding							217.162471	KEEP	53	51	-1	121	110	53	51	-1	226.808775	121	110	0.303571	1	0	0	0	0	0	0	1	0	--	--		0	A				198	GBM-27-2518-TP	p.V610V	G	GGCGGGCCGTGACTTGCTGCA	NM_005110	NP_005101	179731784	O94808	GFPT2_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		17	1928	-	A	A	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Silent	610			SIS 2.			
GFPT2	0	broad.mit.edu	GRCh37	5	179731922	179731922	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-27-2518-01	TCGA-27-2518-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000253778.8:c.1692C>G	p.Thr564=	p.T564=	ENST00000253778	NM_005110.2	564	acC/acG	0			1			C	T	uc003mlw.1	protein_coding	YES	CCDS43411.1			1692/2049									ovary(1)|skin(1)	2	c.(1690-1692)ACC>ACG			Gene3D:3.40.50.10490,Pfam_domain:PF01380,PROSITE_profiles:PS51464,hmmpanther:PTHR10937,hmmpanther:PTHR10937:SF10,Superfamily_domains:SSF53697,TIGRFAM_domain:TIGR01135	glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)			ENSP00000253778		17/19									COSM2157295	17/19	.		ENST00000253778	Transcript			dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	ENSG00000131459	g.chr5:179731922G>C	4242			LOW								--	--	1																																			1	1			p.T564T	NM_005110	NP_005101			1	GFPT2_HUMAN	GFPT2	HGNC	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		B3KM63_HUMAN		17	1790	-	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	UPI000014F5AC	564			SIS 2.		SNV	GFPT2,synonymous_variant,p.=,ENST00000253778,NM_005110.2;	uc003mlw.1	c.1692C>G	1862/3093	4	4			c.1692C>G						5	SNP	c.(1690-1692)ACC>ACG	35	35			ovary(1)|skin(1)	2	Broad	glutamine-fructose-6-phosphate transaminase 2		L-Glutamine(DB00130)	179731922		0.537	ENSG00000131459	6233	g.chr5:179731922G>C	dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding							255.26858	KEEP	44	58	-1	114	93	44	58	-1	262.607191	114	93	0.326007	1	0	0	0	0	0	0	1	0	--	--		0	C				198	GBM-27-2518-TP	p.T564T	G	AGTGCATGTAGGTTATCTCTT	NM_005110	NP_005101	179731922	O94808	GFPT2_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		17	1790	-	C	C	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Silent	564			SIS 2.			
GFRA1	0	broad.mit.edu	GRCh37	10	117884937	117884937	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01	TCGA-14-1450-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355422.6:c.565C>T	p.Arg189Cys	p.R189C	ENST00000355422	NM_005264.4	189	Cgc/Tgc	0			1			A	R/C	uc001lcj.2	protein_coding	YES	CCDS44481.1			565/1398									ovary(1)|pancreas(1)	2	c.(565-567)CGC>TGC			hmmpanther:PTHR10269,hmmpanther:PTHR10269:SF3,Pfam_domain:PF02351,SMART_domains:SM00907,PIRSF_domain:PIRSF038071,Prints_domain:PR01316	GDNF family receptor alpha 1 isoform a				ENSP00000347591		11-Jun									COSM3396927,COSM3396926	11-Jun	.		ENST00000355422	Transcript			axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	ENSG00000151892	g.chr10:117884937G>A	4243			MODERATE		2.815	medium	getma.org/?cm=msa&ty=f&p=GFRA1_HUMAN&rb=154&re=233&var=R189C	getma.org/pdb.php?prot=GFRA1_HUMAN&from=154&to=233&var=R189C	getma.org/?cm=var&var=hg19,10,117884937,G,A&fts=all	R189C	--	--	1																																		GFRA1_uc001lci.2_Missense_Mutation_p.R184C|GFRA1_uc009xyr.2_Missense_Mutation_p.R184C	1,1	1		probably_damaging(0.998)	p.R189C	NM_005264	NP_005255		deleterious(0)	1,1	GFRA1_HUMAN	GFRA1	HGNC	P56159	GFRA1_HUMAN		all cancers(201;0.0337)			6	1263	-		Lung NSC(174;0.21)	UPI000012B3A8	189			2		SNV	GFRA1,missense_variant,p.Arg184Cys,ENST00000439649,NM_001145453.1;GFRA1,missense_variant,p.Arg184Cys,ENST00000369236,NM_145793.3;GFRA1,missense_variant,p.Arg189Cys,ENST00000355422,NM_005264.4;GFRA1,missense_variant,p.Arg189Cys,ENST00000369234,;GFRA1,missense_variant,p.Arg68Cys,ENST00000544592,;	uc001lcj.2	c.565C>T	1116/2583	1	1			c.565C>T						10	SNP	c.(565-567)CGC>TGC	52	52			ovary(1)|pancreas(1)	2	Broad	GDNF family receptor alpha 1 isoform a			117884937		0.607	ENSG00000151892	6234	g.chr10:117884937G>A	axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	Ovarian(128;329 1725 45498 46808 50759)			Ovarian(128;329 1725 45498 46808 50759)			33.024421	KEEP	7	5	-1	4	7	7	5	-1	33.034692	4	7	0.52381	1	0	0	0	0	1	0	0	0	--	--		0	A			GFRA1_uc001lci.2_Missense_Mutation_p.R184C|GFRA1_uc009xyr.2_Missense_Mutation_p.R184C	145	GBM-14-1450-TP	p.R189C	G	CACTTGCGGCGGTTGCAGACA	NM_005264	NP_005255	117884937	P56159	GFRA1_HUMAN	0		all cancers(201;0.0337)	6	1263	-	A	A		Lung NSC(174;0.21)	Missense_Mutation	189			2			
GFRA2	2675	broad.mit.edu	GRCh37	8	21608207	21608207	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000524240.1:c.687C>T	p.Cys229=	p.C229=	ENST00000524240	NM_001495.4	229	tgC/tgT	0			1			A	C	uc003wzu.1	protein_coding		CCDS47816.1			687/1395										0	c.(685-687)TGC>TGT			Prints_domain:PR01316,SMART_domains:SM00907,PIRSF_domain:PIRSF038071,Pfam_domain:PF02351,hmmpanther:PTHR10269,hmmpanther:PTHR10269:SF4	GDNF family receptor alpha 2 isoform a				ENSP00000429445		11-Jun	2.47E-05					3.03E-05		6.06E-05	rs778196839,COSM3412909	11-Jun	.		ENST00000517328	Transcript				anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	ENSG00000168546	g.chr8:21608207G>A	4244			LOW								--	--	1																																		GFRA2_uc003wzv.1_Silent_p.C124C|GFRA2_uc003wzw.1_Silent_p.C96C|DOK2_uc003wzx.1_Intron	0,1				p.C229C	NM_001495	NP_001486			0,1	GFRA2_HUMAN	GFRA2	HGNC	O00451	GFRA2_HUMAN		Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)	E5RJ44_HUMAN,E5RGR6_HUMAN		4	1362	-			UPI000000D9B1	229					SNV	GFRA2,synonymous_variant,p.=,ENST00000524240,NM_001495.4;GFRA2,synonymous_variant,p.=,ENST00000400782,NM_001165039.1,NM_001165038.1;GFRA2,synonymous_variant,p.=,ENST00000517328,;GFRA2,synonymous_variant,p.=,ENST00000518077,;GFRA2,synonymous_variant,p.=,ENST00000517892,;GFRA2,synonymous_variant,p.=,ENST00000522071,;GFRA2,3_prime_UTR_variant,,ENST00000306793,;	uc003wzu.1	c.687C>T	961/2104	2	2			c.687C>T						8	SNP	c.(685-687)TGC>TGT	42	42				0	Broad	GDNF family receptor alpha 2 isoform a			21608207		0.657	ENSG00000168546	6235	g.chr8:21608207G>A		anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity							57.240486	KEEP	14	16	-1	16	20	14	16	-1	57.517496	16	20	0.416667	1	0	0	0	0	0	0	1	0	--	--		0	A			GFRA2_uc003wzv.1_Silent_p.C124C|GFRA2_uc003wzw.1_Silent_p.C96C|DOK2_uc003wzx.1_Intron	8	GBM-02-2486-TP	p.C229C	G	GGCGCTCAGCGCACGCCTGGT	NM_001495	NP_001486	21608207	O00451	GFRA2_HUMAN	0		Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)	4	1362	-	A	A			Silent	229						
GFRAL	389400	broad.mit.edu	GRCh37	6	55223736	55223736	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-02-2483-01	TCGA-02-2483-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340465.2:c.752A>T	p.Lys251Met	p.K251M	ENST00000340465	NM_207410.2	251	aAg/aTg	0			1			T	K/M	uc003pcm.1	protein_coding	YES	CCDS4957.1			752/1185									ovary(1)|breast(1)	2	c.(751-753)AAG>ATG			Superfamily_domains:0042655,Pfam_domain:PF02351,hmmpanther:PTHR10269,hmmpanther:PTHR10269:SF1,SMART_domains:SM00907	GDNF family receptor alpha like precursor				ENSP00000343636		9-Jun									COSM3411211	9-Jun	.		ENST00000340465	Transcript				integral to membrane	receptor activity	ENSG00000187871	g.chr6:55223736A>T	32789			MODERATE		1.955	medium	getma.org/?cm=msa&ty=f&p=GFRAL_HUMAN&rb=220&re=316&var=K251M	NA	getma.org/?cm=var&var=hg19,6,55223736,A,T&fts=all	K251M	--	--	1																																			1	1		probably_damaging(0.976)	p.K251M	NM_207410	NP_997293		deleterious(0)	1	GFRAL_HUMAN	GFRAL	HGNC	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)				6	838	+	Lung NSC(77;0.0875)|Renal(3;0.122)		UPI000023780D	251			Extracellular (Potential).		SNV	GFRAL,missense_variant,p.Lys251Met,ENST00000340465,NM_207410.2;	uc003pcm.1	c.752A>T	838/1911	1	1			c.752A>T						6	SNP	c.(751-753)AAG>ATG	13	13			ovary(1)|breast(1)	2	Broad	GDNF family receptor alpha like precursor			55223736		0.393	ENSG00000187871	6237	g.chr6:55223736A>T		integral to membrane	receptor activity							-28.12465	KEEP	3	5	-1	105	90	3	5	-1	15.752593	105	90	0.041237	1	0	0	0	0	1	0	0	0	--	--		0	T				6	GBM-02-2483-TP	p.K251M	A	GTGACTAGAAAGTGCCATGAA	NM_207410	NP_997293	55223736	Q6UXV0	GFRAL_HUMAN	0	LUSC - Lung squamous cell carcinoma(124;0.23)		6	838	+	T	T	Lung NSC(77;0.0875)|Renal(3;0.122)		Missense_Mutation	251			Extracellular (Potential).			
GFRAL	389400	broad.mit.edu	GRCh37	6	55198620	55198620	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0210-01	TCGA-06-0210-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340465.2:c.194A>G	p.Tyr65Cys	p.Y65C	ENST00000340465	NM_207410.2	65	tAc/tGc	0			1			G	Y/C	uc003pcm.1	protein_coding	YES	CCDS4957.1			194/1185									ovary(1)|breast(1)	2	c.(193-195)TAC>TGC			hmmpanther:PTHR10269,hmmpanther:PTHR10269:SF1,SMART_domains:SM00907	GDNF family receptor alpha like precursor				ENSP00000343636		9-Mar									COSM3411210	9-Mar	.		ENST00000340465	Transcript				integral to membrane	receptor activity	ENSG00000187871	g.chr6:55198620A>G	32789			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=GFRAL_HUMAN&rb=1&re=130&var=Y65C	NA	getma.org/?cm=var&var=hg19,6,55198620,A,G&fts=all	Y65C	--	--	1																																			1	1		possibly_damaging(0.497)	p.Y65C	NM_207410	NP_997293		tolerated(0.17)	1	GFRAL_HUMAN	GFRAL	HGNC	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)				3	280	+	Lung NSC(77;0.0875)|Renal(3;0.122)		UPI000023780D	65			Extracellular (Potential).		SNV	GFRAL,missense_variant,p.Tyr65Cys,ENST00000340465,NM_207410.2;	uc003pcm.1	c.194A>G	280/1911	3	3			c.194A>G						6	SNP	c.(193-195)TAC>TGC	16	16			ovary(1)|breast(1)	2	Broad	GDNF family receptor alpha like precursor			55198620		0.373	ENSG00000187871	6237	g.chr6:55198620A>G		integral to membrane	receptor activity							60.872718	KEEP	14	15	-1	83	58	14	15	-1	75.824675	83	58	0.171233	1	0	0	0	0	1	0	0	0	--	--		0	G				47	GBM-06-0210-TP	p.Y65C	A	AATTCATCATACTGTAACCTG	NM_207410	NP_997293	55198620	Q6UXV0	GFRAL_HUMAN	0	LUSC - Lung squamous cell carcinoma(124;0.23)		3	280	+	G	G	Lung NSC(77;0.0875)|Renal(3;0.122)		Missense_Mutation	65			Extracellular (Potential).			
GFRAL	0	broad.mit.edu	GRCh37	6	55264168	55264168	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	T			TCGA-06-6700-01	TCGA-06-6700-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340465.2:c.1050A>T	p.Gly350=	p.G350=	ENST00000340465	NM_207410.2	350	ggA/ggT	0			1			T	G	uc003pcm.1	protein_coding	YES	CCDS4957.1			1050/1185									ovary(1)|breast(1)	2	c.(1048-1050)GGA>GGT			hmmpanther:PTHR10269,hmmpanther:PTHR10269:SF1	GDNF family receptor alpha like precursor				ENSP00000343636		9-Aug									COSM3411212	9-Aug	.		ENST00000340465	Transcript				integral to membrane	receptor activity	ENSG00000187871	g.chr6:55264168A>T	32789			LOW								--	--	1																																			1	1			p.G350G	NM_207410	NP_997293			1	GFRAL_HUMAN	GFRAL	HGNC	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)				8	1136	+	Lung NSC(77;0.0875)|Renal(3;0.122)		UPI000023780D	350			Extracellular (Potential).		SNV	GFRAL,splice_region_variant,p.=,ENST00000340465,NM_207410.2;	uc003pcm.1	c.1050A>T	1136/1911	2	2			c.1050A>T						6	SNP	c.(1048-1050)GGA>GGT	21	21			ovary(1)|breast(1)	2	Broad	GDNF family receptor alpha like precursor			55264168		0.313	ENSG00000187871	6237	g.chr6:55264168A>T		integral to membrane	receptor activity							25.144322	KEEP	8	6	-1	26	29	8	6	-1	30.382233	26	29	0.203125	1	0	0	0	0	0	0	1	0	--	--		0	T				114	GBM-06-6700-TP	p.G350G	A	TTTTTCTAGGAGAAGTAATCT	NM_207410	NP_997293	55264168	Q6UXV0	GFRAL_HUMAN	0	LUSC - Lung squamous cell carcinoma(124;0.23)		8	1136	+	T	T	Lung NSC(77;0.0875)|Renal(3;0.122)		Silent	350			Extracellular (Potential).			
GGA1	26088	broad.mit.edu	GRCh37	22	38016850	38016850	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0128-01	TCGA-06-0128-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343632.4:c.458A>G	p.Asp153Gly	p.D153G	ENST00000343632	NM_013365.4	153	gAt/gGt	0			1			G	D/G	uc003atc.2	protein_coding	YES	CCDS13951.1			458/1920									breast(2)|ovary(1)	3	c.(457-459)GAT>GGT			hmmpanther:PTHR13856,hmmpanther:PTHR13856:SF82,Low_complexity_(Seg):seg,Superfamily_domains:SSF48464	golgi associated, gamma adaptin ear containing,				ENSP00000341344		17-Jun									COSM2149465	17-Jun	.		ENST00000343632	Transcript			intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding	ENSG00000100083	g.chr22:38016850A>G	17842			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=GGA1_HUMAN&rb=144&re=205&var=D153G	NA	getma.org/?cm=var&var=hg19,22,38016850,A,G&fts=all	D153G	--	--	1																																		GGA1_uc003atd.2_Missense_Mutation_p.D153G|GGA1_uc003ate.2_Missense_Mutation_p.D153G|GGA1_uc003atf.2_Missense_Mutation_p.D80G	1	1		benign(0.16)	p.D153G	NM_013365	NP_037497		tolerated(0.21)	1	GGA1_HUMAN	GGA1	HGNC	Q9UJY5	GGA1_HUMAN			B0QYS5_HUMAN,B0QYS4_HUMAN,B0QYS3_HUMAN,B0QYS2_HUMAN,B0QYS1_HUMAN,B0QYS0_HUMAN,B0QYR9_HUMAN,B0QYR8_HUMAN		6	823	+	Melanoma(58;0.0574)		UPI0000001BEE	153			Interaction with ARF3.		SNV	GGA1,missense_variant,p.Asp80Gly,ENST00000406772,NM_001172688.1;GGA1,missense_variant,p.Asp153Gly,ENST00000343632,NM_013365.4,NM_001172687.1;GGA1,missense_variant,p.Asp120Gly,ENST00000337437,;GGA1,missense_variant,p.Asp153Gly,ENST00000325180,NM_001001560.2;GGA1,missense_variant,p.Asp170Gly,ENST00000381756,;GGA1,missense_variant,p.Asp145Gly,ENST00000449944,;GGA1,missense_variant,p.Asp80Gly,ENST00000429218,;GGA1,missense_variant,p.Asp80Gly,ENST00000413251,;GGA1,missense_variant,p.Asp80Gly,ENST00000423024,;GGA1,downstream_gene_variant,,ENST00000414350,NM_001001561.2;GGA1,downstream_gene_variant,,ENST00000326597,;GGA1,downstream_gene_variant,,ENST00000411501,;GGA1,downstream_gene_variant,,ENST00000453208,;GGA1,downstream_gene_variant,,ENST00000447515,;GGA1,downstream_gene_variant,,ENST00000405147,;GGA1,downstream_gene_variant,,ENST00000439161,;GGA1,downstream_gene_variant,,ENST00000431745,;GGA1,upstream_gene_variant,,ENST00000475445,;GGA1,downstream_gene_variant,,ENST00000489772,;GGA1,upstream_gene_variant,,ENST00000481613,;GGA1,downstream_gene_variant,,ENST00000491295,;	uc003atc.2	c.458A>G	844/3159	3	3			c.458A>G						22	SNP	c.(457-459)GAT>GGT	58	58			breast(2)|ovary(1)	3	Broad	golgi associated, gamma adaptin ear containing,			38016850		0.522	ENSG00000100083	6238	g.chr22:38016850A>G	intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding							171.497656	KEEP	31	42	-1	81	70	31	42	-1	177.519368	81	70	0.307692	1	0	0	0	0	1	0	0	0	--	--		0	G			GGA1_uc003atd.2_Missense_Mutation_p.D153G|GGA1_uc003ate.2_Missense_Mutation_p.D153G|GGA1_uc003atf.2_Missense_Mutation_p.D80G	14	GBM-06-0128-TP	p.D153G	A	AAGCTTCCAGATGACACTACC	NM_013365	NP_037497	38016850	Q9UJY5	GGA1_HUMAN	0			6	823	+	G	G	Melanoma(58;0.0574)		Missense_Mutation	153			Interaction with ARF3.			
GGA1	0	broad.mit.edu	GRCh37	22	38016358	38016366	+	inframe_deletion,splice_region_variant	In_Frame_Del	DEL	AAAGAAGCA	AAAGAAGCA	-			TCGA-28-5204-01	TCGA-28-5204-01	AAAGAAGCA	AAAGAAGCA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343632.4:c.417_425delAAAGAAGCA	p.Lys140_Gln142del	p.K140_Q142del	ENST00000343632	NM_013365.4	139	ctAAAGAAGCAg/ctg	0			1			-	LKKQ/L	uc003atc.2	protein_coding	YES	CCDS13951.1			417-425/1920									breast(2)|ovary(1)	3	c.(415-426)CTAAAGAAGCAG>CTG			Gene3D:1.25.40.90,Pfam_domain:PF00790,PROSITE_profiles:PS50179,hmmpanther:PTHR13856,hmmpanther:PTHR13856:SF82,SMART_domains:SM00288,Superfamily_domains:SSF48464	golgi associated, gamma adaptin ear containing,				ENSP00000341344		17-May										17-May	.		ENST00000343632	Transcript			intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding	ENSG00000100083	g.chr22:38016358_38016366delAAAGAAGCA	17842			MODERATE								--	--	1																																		GGA1_uc003atd.2_In_Frame_Del_p.KKQ140del|GGA1_uc003ate.2_In_Frame_Del_p.KKQ140del|GGA1_uc003atf.2_In_Frame_Del_p.KKQ67del		1			p.KKQ140del	NM_013365	NP_037497				GGA1_HUMAN	GGA1	HGNC	Q9UJY5	GGA1_HUMAN			B0QYS5_HUMAN,B0QYS4_HUMAN,B0QYS3_HUMAN,B0QYS2_HUMAN,B0QYS1_HUMAN,B0QYS0_HUMAN,B0QYR9_HUMAN,B0QYR8_HUMAN		5	782_790	+	Melanoma(58;0.0574)		UPI0000001BEE	140_142			Interaction with ARF3.|VHS.		deletion	GGA1,inframe_deletion,p.Lys67_Gln69del,ENST00000406772,NM_001172688.1;GGA1,inframe_deletion,p.Lys140_Gln142del,ENST00000343632,NM_013365.4,NM_001172687.1;GGA1,inframe_deletion,p.Lys107_Gln109del,ENST00000337437,;GGA1,inframe_deletion,p.Lys140_Gln142del,ENST00000325180,NM_001001560.2;GGA1,inframe_deletion,p.Lys157_Gln159del,ENST00000381756,;GGA1,inframe_deletion,p.Lys132_Gln134del,ENST00000449944,;GGA1,inframe_deletion,p.Lys67_Gln69del,ENST00000453208,;GGA1,inframe_deletion,p.Lys67_Gln69del,ENST00000429218,;GGA1,inframe_deletion,p.Lys67_Gln69del,ENST00000413251,;GGA1,inframe_deletion,p.Lys67_Gln69del,ENST00000423024,;GGA1,downstream_gene_variant,,ENST00000414350,NM_001001561.2;GGA1,downstream_gene_variant,,ENST00000326597,;GGA1,downstream_gene_variant,,ENST00000411501,;GGA1,downstream_gene_variant,,ENST00000447515,;GGA1,downstream_gene_variant,,ENST00000405147,;GGA1,downstream_gene_variant,,ENST00000439161,;GGA1,downstream_gene_variant,,ENST00000431745,;GGA1,upstream_gene_variant,,ENST00000475445,;GGA1,downstream_gene_variant,,ENST00000489772,;GGA1,upstream_gene_variant,,ENST00000481613,;GGA1,downstream_gene_variant,,ENST00000491295,;	uc003atc.2	c.417_425delAAAGAAGCA	803-811/3159	5	5			c.417_425delAAAGAAGCA						22	DEL	c.(415-426)CTAAAGAAGCAG>CTG	42	42			breast(2)|ovary(1)	3	Broad	golgi associated, gamma adaptin ear containing,			38016366		0.617	ENSG00000100083	6238	g.chr22:38016358_38016366delAAAGAAGCA	intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding																				0.24	1	1	0	1	0	0	0	0	0	--	--		0	-			GGA1_uc003atd.2_In_Frame_Del_p.KKQ140del|GGA1_uc003ate.2_In_Frame_Del_p.KKQ140del|GGA1_uc003atf.2_In_Frame_Del_p.KKQ67del	215	GBM-28-5204-TP	p.KKQ140del	AAAGAAGCA	ACCAGATGCTAAAGAAGCAGGGTGAGGCA	NM_013365	NP_037497	38016358	Q9UJY5	GGA1_HUMAN	0			5	782_790	+	-	-	Melanoma(58;0.0574)		In_Frame_Del	140_142			Interaction with ARF3.|VHS.			
GGA2	23062	broad.mit.edu	GRCh37	16	23505700	23505700	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T			TCGA-06-1804-01	TCGA-06-1804-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309859.4:c.177-1G>A		p.X59_splice	ENST00000309859	NM_015044.4	59		0			1			T		uc002dlq.2	protein_coding	YES	CCDS10611.1			177/1842									ovary(1)|central_nervous_system(1)	2	c.e3-1				ADP-ribosylation factor binding protein 2				ENSP00000311962											COSM3402194		.		ENST00000309859	Transcript			intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	ENSG00000103365	g.chr16:23505700C>T	16064			HIGH	16-Feb							--	--	1																																		GGA2_uc010bxo.1_Splice_Site	1	1			p.G59_splice	NM_015044	NP_055859			1	GGA2_HUMAN	GGA2	HGNC	Q9UJY4	GGA2_HUMAN		GBM - Glioblastoma multiforme(48;0.0386)	H3BMN6_HUMAN		3	253	-			UPI000013EF46						SNV	GGA2,splice_acceptor_variant,,ENST00000309859,NM_015044.4;GGA2,splice_acceptor_variant,,ENST00000567468,;GGA2,splice_acceptor_variant,,ENST00000569300,;GGA2,splice_acceptor_variant,,ENST00000562944,;GGA2,splice_acceptor_variant,,ENST00000562117,;GGA2,splice_acceptor_variant,,ENST00000568799,;GGA2,splice_acceptor_variant,,ENST00000569189,;GGA2,splice_acceptor_variant,,ENST00000570111,;GGA2,splice_acceptor_variant,,ENST00000563494,;GGA2,splice_acceptor_variant,,ENST00000563047,;GGA2,splice_acceptor_variant,,ENST00000566651,;GGA2,non_coding_transcript_exon_variant,,ENST00000567201,;GGA2,downstream_gene_variant,,ENST00000566547,;	uc002dlq.2	c.177_splice	-/5973	5	2			c.177_splice						16	SNP	c.e3-1	18	18			ovary(1)|central_nervous_system(1)	2	Broad	ADP-ribosylation factor binding protein 2			23505700		0.522	ENSG00000103365	6239	g.chr16:23505700C>T	intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding							-4.293307	KEEP	3	5	-1	52	63	3	5	-1	17.17684	52	63	0.070796	1	0	0	0	0	0	0	0	1	--	--		0	T			GGA2_uc010bxo.1_Splice_Site	79	GBM-06-1804-TP	p.G59_splice	C	ATGTGTGGGGCTACAGGGAAA	NM_015044	NP_055859	23505700	Q9UJY4	GGA2_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0386)	3	253	-	T	T			Splice_Site							
GGNBP2	79893	broad.mit.edu	GRCh37	17	34943625	34943625	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-02-2470-01	TCGA-02-2470-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304718.4:c.1841del	p.Leu614CysfsTer13	p.L614Cfs*13	ENST00000304718	NM_024835.4	614	Ttg/tg	0			1			-	L/X	uc002hnb.2	protein_coding	YES	CCDS11314.1			1840/2094									ovary(2)	2	c.(1840-1842)TTGfs			hmmpanther:PTHR13601	zinc finger protein 403				ENSP00000307617		13/14										13/14	.		ENST00000304718	Transcript			cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		ENSG00000005955	g.chr17:34943625delT	19357	1		HIGH								--	--	1																																				1			p.L614fs	NM_024835	NP_079111				GGNB2_HUMAN	GGNBP2	HGNC	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	K7ELA8_HUMAN,B4DWN7_HUMAN		13	2089	+		Breast(25;0.00957)|Ovarian(249;0.17)	UPI00000728CB	614					deletion	GGNBP2,frameshift_variant,p.Leu614CysfsTer13,ENST00000304718,NM_024835.4;GGNBP2,frameshift_variant,p.Leu89CysfsTer13,ENST00000588222,;DHRS11,upstream_gene_variant,,ENST00000251312,NM_024308.3;DHRS11,upstream_gene_variant,,ENST00000590554,;DHRS11,upstream_gene_variant,,ENST00000394445,;GGNBP2,non_coding_transcript_exon_variant,,ENST00000589269,;GGNBP2,downstream_gene_variant,,ENST00000486208,;GGNBP2,downstream_gene_variant,,ENST00000495023,;GGNBP2,downstream_gene_variant,,ENST00000483256,;GGNBP2,downstream_gene_variant,,ENST00000586045,;DHRS11,upstream_gene_variant,,ENST00000590527,;	uc002hnb.2	c.1840delT	2156/2847	5	5			c.1840delT						17	DEL	c.(1840-1842)TTGfs	35	35			ovary(2)	2	Broad	zinc finger protein 403			34943625		0.463	ENSG00000005955	6245	g.chr17:34943625delT	cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle																					0.02	1	1	0	1	0	0	0	0	0	--	--		0	-				5	GBM-02-2470-TP	p.L614fs	T	TACAGAAACGTTGTTTGGTCC	NM_024835	NP_079111	34943625	Q9H3C7	GGNB2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	13	2089	+	-	-		Breast(25;0.00957)|Ovarian(249;0.17)	Frame_Shift_Del	614						
GGT1	2678	broad.mit.edu	GRCh37	22	25023517	25023517	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0238-01	TCGA-06-0238-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400382.1:c.1139G>A	p.Gly380Asp	p.G380D	ENST00000400382	NM_001288833.1	380	gGc/gAc	0		A:0	1	A:0		A	G/D	uc003aan.1	protein_coding		CCDS42992.1			1139/1710										0	c.(1138-1140)GGC>GAC			Superfamily_domains:SSF56235,TIGRFAM_domain:TIGR00066,Pfam_domain:PF01019,hmmpanther:PTHR11686:SF1,hmmpanther:PTHR11686	gamma-glutamyltransferase 1 precursor	Glutathione(DB00143)	A:0		ENSP00000248923	A:0.004	16-Dec	0.00033				0.00596	0.000145	0.00265		rs547395033,COSM3405555	16-Dec	common_variant		ENST00000248923	Transcript	1	A:0.0008	glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	ENSG00000100031	g.chr22:25023517G>A	4250			MODERATE		2.42	medium	getma.org/?cm=msa&ty=f&p=GGT1_HUMAN&rb=55&re=564&var=G380D	getma.org/pdb.php?prot=GGT1_HUMAN&from=55&to=564&var=G380D	getma.org/?cm=var&var=hg19,22,25023517,G,A&fts=all	G380D	--	--	1																																		GGT1_uc003aas.1_Missense_Mutation_p.G380D|GGT1_uc003aat.1_Missense_Mutation_p.G380D|GGT1_uc003aau.1_Missense_Mutation_p.G380D|GGT1_uc003aav.1_Missense_Mutation_p.G380D|GGT1_uc003aaw.1_Missense_Mutation_p.G380D|GGT1_uc003aax.1_Missense_Mutation_p.G380D|GGT1_uc003aay.1_Missense_Mutation_p.G36D	0,1			probably_damaging(0.996)	p.G380D	NM_013430	NP_038347	A:0	deleterious(0)	0,1	GGT1_HUMAN	GGT1	HGNC	P19440	GGT1_HUMAN			Q9UEN9_HUMAN,Q9UEN8_HUMAN,Q6NZY2_HUMAN,O76033_HUMAN,O75693_HUMAN,E9PHP2_HUMAN,E7EVF8_HUMAN,E7ETU4_HUMAN,E7ETR7_HUMAN,E7ETN1_HUMAN,E7ETJ6_HUMAN,E7ET76_HUMAN,E7ESL5_HUMAN,E7ERN9_HUMAN,E7ENJ5_HUMAN,E7EM62_HUMAN,C9JIY6_HUMAN,C9JGF3_HUMAN		12	1626	+			UPI000007080C	380			Extracellular (Potential).		SNV	GGT1,missense_variant,p.Gly380Asp,ENST00000400382,NM_001288833.1;GGT1,missense_variant,p.Gly380Asp,ENST00000400380,NM_013421.2;GGT1,missense_variant,p.Gly380Asp,ENST00000400383,NM_005265.2,NM_001032364.2;GGT1,missense_variant,p.Gly380Asp,ENST00000406383,NM_001032365.2;GGT1,missense_variant,p.Gly380Asp,ENST00000248923,NM_013430.2;GGT1,missense_variant,p.Gly380Asp,ENST00000412658,;GGT1,missense_variant,p.Gly36Asp,ENST00000403838,;GGT1,missense_variant,p.Gly36Asp,ENST00000401885,;GGT1,missense_variant,p.Gly36Asp,ENST00000404223,NM_001282879.1;GGT1,missense_variant,p.Gly36Asp,ENST00000404532,;GGT1,missense_variant,p.Gly36Asp,ENST00000404920,;GGT1,non_coding_transcript_exon_variant,,ENST00000466310,;GGT1,upstream_gene_variant,,ENST00000490087,;GGT1,3_prime_UTR_variant,,ENST00000425895,;	uc003aan.1	c.1139G>A	1626/2326	1	1			c.1139G>A						22	SNP	c.(1138-1140)GGC>GAC	62	62				0	Broad	gamma-glutamyltransferase 1 precursor		Glutathione(DB00143)	25023517		0.632	ENSG00000100031	6247	g.chr22:25023517G>A	glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding							2.078552	KEEP	3	1	-1	27	29	3	1	-1	8.720553	27	29	0.097561	1	0	0	0	0	1	0	0	0	--	--		0	A			GGT1_uc003aas.1_Missense_Mutation_p.G380D|GGT1_uc003aat.1_Missense_Mutation_p.G380D|GGT1_uc003aau.1_Missense_Mutation_p.G380D|GGT1_uc003aav.1_Missense_Mutation_p.G380D|GGT1_uc003aaw.1_Missense_Mutation_p.G380D|GGT1_uc003aax.1_Missense_Mutation_p.G380D|GGT1_uc003aay.1_Missense_Mutation_p.G36D	55	GBM-06-0238-TP	p.G380D	G	GATGACGGGGGCACTGCTCAC	NM_013430	NP_038347	25023517	P19440	GGT1_HUMAN	0			12	1626	+	A	A			Missense_Mutation	380			Extracellular (Potential).			
GGT5	2687	broad.mit.edu	GRCh37	22	24622188	24622188	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149456868		TCGA-06-0750-01	TCGA-06-0750-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398292.3:c.1085G>A	p.Arg362His	p.R362H	ENST00000398292		362	cGc/cAc	0	T:0	T:0.0015	1	T:0		T	R/H	uc002zzo.3	protein_coding		CCDS13825.1			1085/1761									ovary(2)|skin(1)	3	c.(1084-1086)CGC>CAC			Superfamily_domains:SSF56235,Pfam_domain:PF01019,hmmpanther:PTHR11686,hmmpanther:PTHR11686:SF5	gamma-glutamyltransferase 5 isoform b		T:0	T:0.0001	ENSP00000330080	T:0	12-Aug	6.59E-05	0.000207				6.21E-05		0.000126	rs149456868,COSM2151969	12-Aug	.		ENST00000327365	Transcript		T:0.0004	glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	ENSG00000099998	g.chr22:24622188C>T	4260			MODERATE		3.23	medium	getma.org/?cm=msa&ty=f&p=GGT5_HUMAN&rb=58&re=581&var=R362H	getma.org/pdb.php?prot=GGT5_HUMAN&from=58&to=581&var=R362H	getma.org/?cm=var&var=hg19,22,24622188,C,T&fts=all	R362H	--	--	1																																		GGT5_uc002zzp.3_Missense_Mutation_p.R362H|GGT5_uc002zzr.3_Missense_Mutation_p.R330H|GGT5_uc002zzq.3_Missense_Mutation_p.R330H|GGT5_uc011ajm.1_Missense_Mutation_p.R285H|GGT5_uc011ajn.1_RNA	0,1			benign(0.351)	p.R362H	NM_004121	NP_004112	T:0	deleterious(0.02)	0,1	GGT5_HUMAN	GGT5	HGNC	P36269	GGT5_HUMAN			B4DND4_HUMAN		8	1502	-			UPI000013D3A9	362			Extracellular (Potential).		SNV	GGT5,missense_variant,p.Arg362His,ENST00000327365,NM_001099781.1,NM_004121.2;GGT5,missense_variant,p.Arg362His,ENST00000398292,;GGT5,missense_variant,p.Arg330His,ENST00000263112,NM_001099782.1;GGT5,missense_variant,p.Arg285His,ENST00000418439,;GGT5,upstream_gene_variant,,ENST00000425408,;	uc002zzo.3	c.1085G>A	1502/2494	2	2			c.1085G>A						22	SNP	c.(1084-1086)CGC>CAC	19	19			ovary(2)|skin(1)	3	Broad	gamma-glutamyltransferase 5 isoform b			24622188		0.692	ENSG00000099998	6248	g.chr22:24622188C>T	glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity							67.8511	KEEP	13	13	-1	23	24	13	13	-1	69.221568	23	24	0.352113	1	0	0	0	0	1	0	0	0	--	--		0	T			GGT5_uc002zzp.3_Missense_Mutation_p.R362H|GGT5_uc002zzr.3_Missense_Mutation_p.R330H|GGT5_uc002zzq.3_Missense_Mutation_p.R330H|GGT5_uc011ajm.1_Missense_Mutation_p.R285H|GGT5_uc011ajn.1_RNA	70	GBM-06-0750-TP	p.R362H	C	GATCTGTTGGCGGATGAGCTG	NM_004121	NP_004112	24622188	P36269	GGT5_HUMAN	0			8	1502	-	T	T			Missense_Mutation	362			Extracellular (Potential).			
GGTLC1	0	broad.mit.edu	GRCh37	20	23967182	23967182	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-26-5135-01	TCGA-26-5135-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278765.4:c.67T>C	p.Ser23Pro	p.S23P	ENST00000278765	NM_178312.2	23	Tcc/Ccc	0			1			G	S/P	uc002wts.2	protein_coding		CCDS13163.1			67/678									ovary(1)	1	c.(67-69)TCC>CCC			Superfamily_domains:SSF56235,Pfam_domain:PF01019,hmmpanther:PTHR11686:SF1,hmmpanther:PTHR11686	gamma-glutamyltransferase light chain 1				ENSP00000278765		6-Feb									COSM2157084,COSM2157085	6-Feb	.		ENST00000278765	Transcript					gamma-glutamyltransferase activity	ENSG00000149435	g.chr20:23967182A>G	16437			MODERATE		2.025	medium	getma.org/?cm=msa&ty=f&p=GGTL1_HUMAN&rb=1&re=220&var=S23P	getma.org/pdb.php?prot=GGTL1_HUMAN&from=1&to=220&var=S23P	getma.org/?cm=var&var=hg19,20,23967182,A,G&fts=all	S23P	--	--	1																																		GGTLC1_uc002wtu.2_Missense_Mutation_p.S23P	1,1			benign(0.053)	p.S23P	NM_178312	NP_842564		tolerated(0.22)	1,1	GGTL1_HUMAN	GGTLC1	HGNC	Q9BX51	GGTL1_HUMAN					2	200	-			UPI0000073C4D	23					SNV	GGTLC1,missense_variant,p.Ser23Pro,ENST00000335694,NM_178311.2;GGTLC1,missense_variant,p.Ser23Pro,ENST00000286890,;GGTLC1,missense_variant,p.Ser23Pro,ENST00000278765,NM_178312.2;POM121L3P,upstream_gene_variant,,ENST00000419331,;	uc002wts.2	c.67T>C	200/974	3	3			c.67T>C						20	SNP	c.(67-69)TCC>CCC	3	3			ovary(1)	1	Broad	gamma-glutamyltransferase light chain 1			23967182		0.632	ENSG00000149435	6251	g.chr20:23967182A>G			gamma-glutamyltransferase activity							155.742182	KEEP	39	21	-1	61	39	39	21	-1	158.572779	61	39	0.343511	1	0	0	0	0	1	0	0	0	--	--		0	G			GGTLC1_uc002wtu.2_Missense_Mutation_p.S23P	184	GBM-26-5135-TP	p.S23P	A	TTGTAGTAGGAGATCGGGTGA	NM_178312	NP_842564	23967182	Q9BX51	GGTL1_HUMAN	0			2	200	-	G	G			Missense_Mutation	23						
GGTLC1	0	broad.mit.edu	GRCh37	20	23966561	23966561	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01	TCGA-76-4927-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278765.4:c.355G>A	p.Gly119Ser	p.G119S	ENST00000278765	NM_178312.2	119	Ggc/Agc	0			1			T	G/S	uc002wts.2	protein_coding		CCDS13163.1			355/678									ovary(1)	1	c.(355-357)GGC>AGC			Superfamily_domains:SSF56235,Pfam_domain:PF01019,hmmpanther:PTHR11686:SF1,hmmpanther:PTHR11686	gamma-glutamyltransferase light chain 1				ENSP00000278765		6-Apr	4.12E-05			0.000463		1.51E-05			rs746307097,COSM2887063,COSM2887064	6-Apr	common_variant		ENST00000278765	Transcript					gamma-glutamyltransferase activity	ENSG00000149435	g.chr20:23966561C>T	16437			MODERATE		2.24	medium	getma.org/?cm=msa&ty=f&p=GGTL1_HUMAN&rb=1&re=220&var=G119S	getma.org/pdb.php?prot=GGTL1_HUMAN&from=1&to=220&var=G119S	getma.org/?cm=var&var=hg19,20,23966561,C,T&fts=all	G119S	--	--	1																																		GGTLC1_uc002wtu.2_Missense_Mutation_p.G119S	0,1,1			benign(0.327)	p.G119S	NM_178312	NP_842564		tolerated(0.07)	0,1,1	GGTL1_HUMAN	GGTLC1	HGNC	Q9BX51	GGTL1_HUMAN					4	488	-			UPI0000073C4D	119					SNV	GGTLC1,missense_variant,p.Gly119Ser,ENST00000335694,NM_178311.2;GGTLC1,missense_variant,p.Gly119Ser,ENST00000286890,;GGTLC1,missense_variant,p.Gly119Ser,ENST00000278765,NM_178312.2;POM121L3P,upstream_gene_variant,,ENST00000419331,;	uc002wts.2	c.355G>A	488/974	2	2			c.355G>A						20	SNP	c.(355-357)GGC>AGC	25	25			ovary(1)	1	Broad	gamma-glutamyltransferase light chain 1			23966561		0.662	ENSG00000149435	6251	g.chr20:23966561C>T			gamma-glutamyltransferase activity							198.975002	KEEP	37	52	-1	99	101	37	52	-1	204.018759	99	101	0.336449	1	0	0	0	0	1	0	0	0	--	--		0	T			GGTLC1_uc002wtu.2_Missense_Mutation_p.G119S	267	GBM-76-4927-TP	p.G119S	C	CGGACCTGGCCGTCCTGGCCC	NM_178312	NP_842564	23966561	Q9BX51	GGTL1_HUMAN	0			4	488	-	T	T			Missense_Mutation	119						
GGTLC2	0	broad.mit.edu	GRCh37	22	22989259	22989259	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-19-1790-01	TCGA-19-1790-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000480559.1:c.212T>A	p.Ile71Asn	p.I71N	ENST00000480559	NM_199127.2	71	aTc/aAc	0			1			A	I/N	uc010gtt.2	protein_coding	YES	CCDS13802.2			212/657									ovary(1)	1	c.(211-213)ATC>AAC			Pfam_domain:PF01019,Prints_domain:PR01210,hmmpanther:PTHR11686,hmmpanther:PTHR11686:SF1,Superfamily_domains:SSF56235	gamma-glutamyltransferase-like 4 isoform 1				ENSP00000419751		5-Feb									COSM3405543	5-Feb	.		ENST00000480559	Transcript			glutathione biosynthetic process		gamma-glutamyltransferase activity	ENSG00000100121	g.chr22:22989259T>A	18596			MODERATE		4.165	high	getma.org/?cm=msa&ty=f&p=GGTL2_HUMAN&rb=1&re=213&var=I71N	getma.org/pdb.php?prot=GGTL2_HUMAN&from=1&to=213&var=I71N	getma.org/?cm=var&var=hg19,22,22989259,T,A&fts=all	I71N	--	--	1																																		LOC96610_uc011aim.1_Intron|POM121L1P_uc011ait.1_5'Flank|GGTLC2_uc010gts.2_Missense_Mutation_p.I71N	1	1		probably_damaging(0.995)	p.I71N	NM_199127	NP_954578		deleterious(0)	1	GGTL2_HUMAN	GGTLC2	HGNC	Q14390	GGTL2_HUMAN		READ - Rectum adenocarcinoma(21;0.145)			2	246	+	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)	UPI00004210AD	71					SNV	GGTLC2,missense_variant,p.Ile71Asn,ENST00000448514,;GGTLC2,missense_variant,p.Ile71Asn,ENST00000480559,NM_199127.2;POM121L1P,upstream_gene_variant,,ENST00000402027,;GGTLC2,non_coding_transcript_exon_variant,,ENST00000417145,;POM121L1P,upstream_gene_variant,,ENST00000605258,;	uc010gtt.2	c.212T>A	212/657	2	2			c.212T>A						22	SNP	c.(211-213)ATC>AAC	21	21			ovary(1)	1	Broad	gamma-glutamyltransferase-like 4 isoform 1			22989259		0.592	ENSG00000100121	6252	g.chr22:22989259T>A	glutathione biosynthetic process		gamma-glutamyltransferase activity							-24.744099	KEEP	2	3	-1	81	83	2	3	-1	10.301945	81	83	0.033784	1	0	0	0	0	1	0	0	0	--	--		0	A			LOC96610_uc011aim.1_Intron|POM121L1P_uc011ait.1_5'Flank|GGTLC2_uc010gts.2_Missense_Mutation_p.I71N	160	GBM-19-1790-TP	p.I71N	T	GTCAGCGAGATCCTGTTCAAT	NM_199127	NP_954578	22989259	Q14390	GGTL2_HUMAN	0		READ - Rectum adenocarcinoma(21;0.145)	2	246	+	A	A	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)	Missense_Mutation	71						
GH1	2688		GRCh37	17	61995152	61995152	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000323322.5:c.424G>A	p.Asp142Asn	p.D142N	ENST00000323322	NM_000515.3	142	Gac/Aac	0																																																																																																																																																																																																																																												
GH1	2688		GRCh37	17	61995751	61995751	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000323322.5:c.126C>T	p.Arg42=	p.R42=	ENST00000323322	NM_000515.3	42	cgC/cgT	0																																																																																																																																																																																																																																												
GHRHR	2692	broad.mit.edu	GRCh37	7	31016925	31016925	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0878-01	TCGA-06-0878-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326139.2:c.1134C>T	p.Phe378=	p.F378=	ENST00000326139	NM_000823.3	378	ttC/ttT	0			1			T	F	uc003tbx.2	protein_coding	YES	CCDS5432.1			1134/1272									ovary(2)|lung(1)|breast(1)|large_intestine(1)	5	c.(1132-1134)TTC>TTT			Prints_domain:PR00249,PROSITE_patterns:PS00650,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF209,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	growth hormone releasing hormone receptor	Sermorelin(DB00010)			ENSP00000320180		13-Dec									COSM3411983	13-Dec	.		ENST00000326139	Transcript	1		activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	ENSG00000106128	g.chr7:31016925C>T	4266			LOW								--	--	1																																		GHRHR_uc003tby.2_Silent_p.F314F|GHRHR_uc003tbz.2_Missense_Mutation_p.P145S	1	1			p.F378F	NM_000823	NP_000814			1	GHRHR_HUMAN	GHRHR	HGNC	Q02643	GHRHR_HUMAN			P78471_HUMAN,P78470_HUMAN		12	1182	+			UPI0000061EE1	378			Helical; Name=7; (Potential).		SNV	GHRHR,missense_variant,p.Pro145Ser,ENST00000409316,;GHRHR,synonymous_variant,p.=,ENST00000409904,;GHRHR,synonymous_variant,p.=,ENST00000326139,NM_000823.3;GHRHR,intron_variant,,ENST00000461424,;GHRHR,intron_variant,,ENST00000463164,;GHRHR,3_prime_UTR_variant,,ENST00000396227,;GHRHR,3_prime_UTR_variant,,ENST00000337750,;GHRHR,downstream_gene_variant,,ENST00000461390,;GHRHR,downstream_gene_variant,,ENST00000489974,;	uc003tbx.2	c.1134C>T	1180/1602	1	1			c.1134C>T						7	SNP	c.(1132-1134)TTC>TTT	6	6			ovary(2)|lung(1)|breast(1)|large_intestine(1)	5	Broad	growth hormone releasing hormone receptor		Sermorelin(DB00010)	31016925		0.552	ENSG00000106128	6259	g.chr7:31016925C>T	activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding							-18.887484	KEEP	14	6	-1	156	112	14	6	-1	31.730402	156	112	0.06	1	0	0	0	0	0	0	1	0	--	--		0	T			GHRHR_uc003tby.2_Silent_p.F314F|GHRHR_uc003tbz.2_Missense_Mutation_p.P145S	74	GBM-06-0878-TP	p.F378F	C	TCTACTGCTTCCTCAACCAAG	NM_000823	NP_000814	31016925	Q02643	GHRHR_HUMAN	0			12	1182	+	T	T			Silent	378			Helical; Name=7; (Potential).			
GHRHR	0	broad.mit.edu	GRCh37	7	31009513	31009513	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-27-1838-01	TCGA-27-1838-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326139.2:c.300C>A	p.Gly100=	p.G100=	ENST00000326139	NM_000823.3	100	ggC/ggA	0			1			A	G	uc003tbx.2	protein_coding	YES	CCDS5432.1			300/1272									ovary(2)|lung(1)|breast(1)|large_intestine(1)	5	c.(298-300)GGC>GGA			Pfam_domain:PF02793,PROSITE_profiles:PS50227,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF209,SMART_domains:SM00008,Superfamily_domains:SSF111418	growth hormone releasing hormone receptor	Sermorelin(DB00010)			ENSP00000320180		13-Apr									COSM3411981	13-Apr	.		ENST00000326139	Transcript	1		activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	ENSG00000106128	g.chr7:31009513C>A	4266			LOW								--	--	1																																		GHRHR_uc003tbw.1_Silent_p.G100G|GHRHR_uc003tby.2_Silent_p.G36G|GHRHR_uc003tbz.2_Translation_Start_Site	1	1			p.G100G	NM_000823	NP_000814			1	GHRHR_HUMAN	GHRHR	HGNC	Q02643	GHRHR_HUMAN			P78471_HUMAN,P78470_HUMAN		4	348	+			UPI0000061EE1	100			Extracellular (Potential).		SNV	GHRHR,synonymous_variant,p.=,ENST00000409904,;GHRHR,synonymous_variant,p.=,ENST00000326139,NM_000823.3;GHRHR,5_prime_UTR_variant,,ENST00000409316,;GHRHR,upstream_gene_variant,,ENST00000461424,;GHRHR,downstream_gene_variant,,ENST00000466427,;GHRHR,synonymous_variant,p.=,ENST00000396227,;GHRHR,synonymous_variant,p.=,ENST00000337750,;GHRHR,upstream_gene_variant,,ENST00000461390,;GHRHR,upstream_gene_variant,,ENST00000489974,;	uc003tbx.2	c.300C>A	346/1602	2	2			c.300C>A						7	SNP	c.(298-300)GGC>GGA	32	32			ovary(2)|lung(1)|breast(1)|large_intestine(1)	5	Broad	growth hormone releasing hormone receptor		Sermorelin(DB00010)	31009513		0.582	ENSG00000106128	6259	g.chr7:31009513C>A	activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding							80.514361	KEEP	34	25	0.423728814	197	205	34	25	0.423728814	114.28222	197	205	0.156667	1	0	0	0	0	0	0	1	0	--	--		0	A			GHRHR_uc003tbw.1_Silent_p.G100G|GHRHR_uc003tby.2_Silent_p.G36G|GHRHR_uc003tbz.2_Translation_Start_Site	197	GBM-27-1838-TP	p.G100G	C	CTATCACTGGCTGGTCTGAGC	NM_000823	NP_000814	31009513	Q02643	GHRHR_HUMAN	0			4	348	+	A	A			Silent	100			Extracellular (Potential).			
GHRHR	0	broad.mit.edu	GRCh37	7	31014610	31014610	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-5651-01	TCGA-41-5651-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326139.2:c.837C>T	p.Ser279=	p.S279=	ENST00000326139	NM_000823.3	279	tcC/tcT	0			1			T	S	uc003tbx.2	protein_coding	YES	CCDS5432.1			837/1272									ovary(2)|lung(1)|breast(1)|large_intestine(1)	5	c.(835-837)TCC>TCT			Pfam_domain:PF00002,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF209,Superfamily_domains:SSF81321	growth hormone releasing hormone receptor	Sermorelin(DB00010)			ENSP00000320180		13-Sep	3.29E-05					3.00E-05		0.000121	rs748290640,COSM3411982	13-Sep	.		ENST00000326139	Transcript	1		activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	ENSG00000106128	g.chr7:31014610C>T	4266			LOW								--	--	1																																OREG0017943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	GHRHR_uc003tbw.1_Silent_p.S279S|GHRHR_uc003tby.2_Silent_p.S215S|GHRHR_uc003tbz.2_Missense_Mutation_p.P46S	0,1	1			p.S279S	NM_000823	NP_000814			0,1	GHRHR_HUMAN	GHRHR	HGNC	Q02643	GHRHR_HUMAN			P78471_HUMAN,P78470_HUMAN		9	885	+			UPI0000061EE1	279			Extracellular (Potential).		SNV	GHRHR,missense_variant,p.Pro46Ser,ENST00000409316,;GHRHR,synonymous_variant,p.=,ENST00000409904,;GHRHR,synonymous_variant,p.=,ENST00000326139,NM_000823.3;GHRHR,non_coding_transcript_exon_variant,,ENST00000461424,;GHRHR,upstream_gene_variant,,ENST00000463164,;GHRHR,3_prime_UTR_variant,,ENST00000396227,;GHRHR,3_prime_UTR_variant,,ENST00000337750,;GHRHR,non_coding_transcript_exon_variant,,ENST00000461390,;GHRHR,downstream_gene_variant,,ENST00000489974,;	uc003tbx.2	c.837C>T	883/1602	2	2			c.837C>T						7	SNP	c.(835-837)TCC>TCT	32	32			ovary(2)|lung(1)|breast(1)|large_intestine(1)	5	Broad	growth hormone releasing hormone receptor		Sermorelin(DB00010)	31014610		0.587	ENSG00000106128	6259	g.chr7:31014610C>T	activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding							131.583122	KEEP	26	28	-1	32	63	26	28	-1	133.988725	32	63	0.352	1	0	0	0	0	0	0	1	0	--	--		0	T	OREG0017943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	GHRHR_uc003tbw.1_Silent_p.S279S|GHRHR_uc003tby.2_Silent_p.S215S|GHRHR_uc003tbz.2_Missense_Mutation_p.P46S	258	GBM-41-5651-TP	p.S279S	C	ACGACACCTCCCCCTACTGGT	NM_000823	NP_000814	31014610	Q02643	GHRHR_HUMAN	0			9	885	+	T	T			Silent	279			Extracellular (Potential).			
GHSR	2693	broad.mit.edu	GRCh37	3	172165997	172165997	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0686-01	TCGA-06-0686-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000241256.2:c.207G>A	p.Ser69=	p.S69=	ENST00000241256	NM_198407.2	69	tcG/tcA	0			1			T	S	uc003fib.1	protein_coding	YES	CCDS3218.1			207/1101									lung(3)|ovary(1)|central_nervous_system(1)	5	c.(205-207)TCG>TCA			Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24243:SF7,hmmpanther:PTHR24243,PROSITE_profiles:PS50262	growth hormone secretagogue receptor isoform 1a				ENSP00000241256		2-Jan									COSM2151586,COSM2151587	2-Jan	.		ENST00000241256	Transcript	1		actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	ENSG00000121853	g.chr3:172165997C>T	4267			LOW								--	--	1																																		GHSR_uc011bpv.1_Silent_p.S69S	1,1	1			p.S69S	NM_198407	NP_940799			1,1	GHSR_HUMAN	GHSR	HGNC	Q92847	GHSR_HUMAN	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		A2T3X1_HUMAN		1	207	-	Ovarian(172;0.00143)|Breast(254;0.197)		UPI000003C2FA	69			Cytoplasmic (Potential).		SNV	GHSR,synonymous_variant,p.=,ENST00000241256,NM_198407.2;GHSR,synonymous_variant,p.=,ENST00000427970,NM_004122.2;	uc003fib.1	c.207G>A	250/1172	2	2			c.207G>A						3	SNP	c.(205-207)TCG>TCA	21	21			lung(3)|ovary(1)|central_nervous_system(1)	5	Broad	growth hormone secretagogue receptor isoform 1a			172165997		0.657	ENSG00000121853	6261	g.chr3:172165997C>T	actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	Esophageal Squamous(93;641 1401 20883 29581 34638)			Esophageal Squamous(93;641 1401 20883 29581 34638)			116.674301	KEEP	24	19	-1	27	29	24	19	-1	116.908037	27	29	0.445652	1	0	0	0	0	0	0	1	0	--	--		0	T			GHSR_uc011bpv.1_Silent_p.S69S	64	GBM-06-0686-TP	p.S69S	C	CGCGGAAGCGCGACACCACCA	NM_198407	NP_940799	172165997	Q92847	GHSR_HUMAN	0	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		1	207	-	T	T	Ovarian(172;0.00143)|Breast(254;0.197)		Silent	69			Cytoplasmic (Potential).			
GHSR	2693	broad.mit.edu	GRCh37	3	172165997	172165997	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2564-01	TCGA-06-2564-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000241256.2:c.207G>A	p.Ser69=	p.S69=	ENST00000241256	NM_198407.2	69	tcG/tcA	0			1			T	S	uc003fib.1	protein_coding	YES	CCDS3218.1			207/1101									lung(3)|ovary(1)|central_nervous_system(1)	5	c.(205-207)TCG>TCA			Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24243:SF7,hmmpanther:PTHR24243,PROSITE_profiles:PS50262	growth hormone secretagogue receptor isoform 1a				ENSP00000241256		2-Jan									COSM2151586,COSM2151587	2-Jan	.		ENST00000241256	Transcript	1		actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	ENSG00000121853	g.chr3:172165997C>T	4267			LOW								--	--	1																																		GHSR_uc011bpv.1_Silent_p.S69S	1,1	1			p.S69S	NM_198407	NP_940799			1,1	GHSR_HUMAN	GHSR	HGNC	Q92847	GHSR_HUMAN	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		A2T3X1_HUMAN		1	207	-	Ovarian(172;0.00143)|Breast(254;0.197)		UPI000003C2FA	69			Cytoplasmic (Potential).		SNV	GHSR,synonymous_variant,p.=,ENST00000241256,NM_198407.2;GHSR,synonymous_variant,p.=,ENST00000427970,NM_004122.2;	uc003fib.1	c.207G>A	250/1172	2	2			c.207G>A						3	SNP	c.(205-207)TCG>TCA	21	21			lung(3)|ovary(1)|central_nervous_system(1)	5	Broad	growth hormone secretagogue receptor isoform 1a			172165997		0.657	ENSG00000121853	6261	g.chr3:172165997C>T	actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	Esophageal Squamous(93;641 1401 20883 29581 34638)			Esophageal Squamous(93;641 1401 20883 29581 34638)			67.918889	KEEP	16	13	-1	12	15	16	13	-1	67.954529	12	15	0.470588	1	0	0	0	0	0	0	1	0	--	--		0	T			GHSR_uc011bpv.1_Silent_p.S69S	87	GBM-06-2564-TP	p.S69S	C	CGCGGAAGCGCGACACCACCA	NM_198407	NP_940799	172165997	Q92847	GHSR_HUMAN	0	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		1	207	-	T	T	Ovarian(172;0.00143)|Breast(254;0.197)		Silent	69			Cytoplasmic (Potential).			
GIF	0	broad.mit.edu	GRCh37	11	59610023	59610023	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-14-0787-01	TCGA-14-0787-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257248.2:c.404C>A	p.Pro135His	p.P135H	ENST00000257248	NM_005142.2	135	cCc/cAc	0			1			T	P/H	uc001noi.2	protein_coding	YES	CCDS7977.1			404/1254									ovary(1)|liver(1)	2	c.(403-405)CCC>CAC			hmmpanther:PTHR10559,hmmpanther:PTHR10559:SF15,Pfam_domain:PF01122	gastric intrinsic factor (vitamin B synthesis)				ENSP00000257248		9-Apr									COSM3397930	9-Apr	.		ENST00000257248	Transcript	1		cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	ENSG00000134812	g.chr11:59610023G>T	4268			MODERATE		2.2	medium	getma.org/?cm=msa&ty=f&p=IF_HUMAN&rb=6&re=313&var=P135H	getma.org/pdb.php?prot=IF_HUMAN&from=6&to=313&var=P135H	getma.org/?cm=var&var=hg19,11,59610023,G,T&fts=all	P135H	--	--	1																																		GIF_uc010rkz.1_3'UTR	1	1		probably_damaging(0.995)	p.P135H	NM_005142	NP_005133		deleterious(0.01)	1	IF_HUMAN	GIF	HGNC	P27352	IF_HUMAN					4	452	-			UPI0000001C67	135					SNV	GIF,missense_variant,p.Pro110His,ENST00000541311,;GIF,missense_variant,p.Pro135His,ENST00000257248,NM_005142.2;GIF,3_prime_UTR_variant,,ENST00000525058,;GIF,non_coding_transcript_exon_variant,,ENST00000532070,;GIF,upstream_gene_variant,,ENST00000533847,;	uc001noi.2	c.404C>A	452/1518	1	1			c.404C>A						11	SNP	c.(403-405)CCC>CAC	1	1			ovary(1)|liver(1)	2	Broad	gastric intrinsic factor (vitamin B synthesis)			59610023		0.562	ENSG00000134812	6262	g.chr11:59610023G>T	cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	NSCLC(53;1139 1245 16872 38474 42853)			NSCLC(53;1139 1245 16872 38474 42853)			113.243937	KEEP	21	21	0.5	62	45	21	21	0.5	118.758496	62	45	0.29078	1	0	0	0	0	1	0	0	0	--	--		0	T			GIF_uc010rkz.1_3'UTR	135	GBM-14-0787-TP	p.P135H	G	CGCTAGACTGGGCCCATAGAA	NM_005142	NP_005133	59610023	P27352	IF_HUMAN	0			4	452	-	T	T			Missense_Mutation	135						
GIGYF2	26058	broad.mit.edu	GRCh37	2	233710565	233710565	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0122-01	TCGA-06-0122-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409451.3:c.3492T>C	p.Leu1164=	p.L1164=	ENST00000409451		1164	ctT/ctC	0			1			C	L	uc002vti.3	protein_coding		CCDS33401.1			3429/3900									ovary(4)|central_nervous_system(3)	7	c.(3427-3429)CTT>CTC			hmmpanther:PTHR14445,hmmpanther:PTHR14445:SF38	GRB10 interacting GYF protein 2 isoform b				ENSP00000362664		26/29									COSM3407672,COSM3407671	26/29	.		ENST00000373563	Transcript	1		cell death		protein binding	ENSG00000204120	g.chr2:233710565T>C	11960			LOW								--	--	1																																		GIGYF2_uc002vtj.3_Silent_p.L1164L|GIGYF2_uc002vtk.3_Silent_p.L1143L|GIGYF2_uc002vth.3_Silent_p.L1137L|GIGYF2_uc010zmk.1_Intron|GIGYF2_uc002vtq.3_Silent_p.L476L	1,1				p.L1143L	NM_015575	NP_056390			1,1	PERQ2_HUMAN	GIGYF2	HGNC	Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	C9JZC0_HUMAN,C9JXQ0_HUMAN,C9JRZ2_HUMAN,C9JPV7_HUMAN,C9JHT0_HUMAN,C9JH18_HUMAN,C9J7G1_HUMAN,C9J1A6_HUMAN,C9J0V6_HUMAN,B9EG55_HUMAN		28	3766	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	UPI00001BD8AE	1143					SNV	GIGYF2,synonymous_variant,p.=,ENST00000373566,;GIGYF2,synonymous_variant,p.=,ENST00000409547,NM_015575.3;GIGYF2,synonymous_variant,p.=,ENST00000409480,NM_001103147.1;GIGYF2,synonymous_variant,p.=,ENST00000409451,;GIGYF2,synonymous_variant,p.=,ENST00000373563,NM_001103146.1;GIGYF2,synonymous_variant,p.=,ENST00000409196,NM_001103148.1;GIGYF2,downstream_gene_variant,,ENST00000452341,;GIGYF2,downstream_gene_variant,,ENST00000426102,;GIGYF2,downstream_gene_variant,,ENST00000469843,;GIGYF2,non_coding_transcript_exon_variant,,ENST00000474312,;GIGYF2,downstream_gene_variant,,ENST00000471011,;	uc002vti.3	c.3429T>C	3624/5847	3	3			c.3429T>C						2	SNP	c.(3427-3429)CTT>CTC	16	16			ovary(4)|central_nervous_system(3)	7	Broad	GRB10 interacting GYF protein 2 isoform b			233710565		0.249	ENSG00000204120	6264	g.chr2:233710565T>C	cell death		protein binding							-7.128617	KEEP	3	0	-1	43	25	3	0	-1	7.712792	43	25	0.044776	1	0	0	0	0	0	0	1	0	--	--		0	C			GIGYF2_uc002vtj.3_Silent_p.L1164L|GIGYF2_uc002vtk.3_Silent_p.L1143L|GIGYF2_uc002vth.3_Silent_p.L1137L|GIGYF2_uc010zmk.1_Intron|GIGYF2_uc002vtq.3_Silent_p.L476L	10	GBM-06-0122-TP	p.L1143L	T	AACAGATGCTTCATGCCCTTA	NM_015575	NP_056390	233710565	Q6Y7W6	PERQ2_HUMAN	0		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	28	3766	+	C	C		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	Silent	1143						
GIMAP1	0	broad.mit.edu	GRCh37	7	150417944	150417944	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-3476-01	TCGA-14-3476-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307194.5:c.852C>T	p.Gly284=	p.G284=	ENST00000307194	NM_130759.3	284	ggC/ggT	0			1			T	G	uc003whq.2	protein_coding	YES	CCDS5906.1			852/921									ovary(1)|breast(1)|central_nervous_system(1)	3	c.(850-852)GGC>GGT			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10903,hmmpanther:PTHR10903:SF46	GTPase, IMAP family member 1				ENSP00000302833		3-Mar	2.51E-05					2.13E-05		8.38E-05	rs770099581,COSM1312832	3-Mar	.		ENST00000307194	Transcript				endoplasmic reticulum membrane|integral to membrane	GTP binding	ENSG00000213203	g.chr7:150417944C>T	23237			LOW								--	--	1																																		GIMAP1_uc003whp.2_Silent_p.G292G	0,1	1			p.G284G	NM_130759	NP_570115			0,1	GIMA1_HUMAN	GIMAP1	HGNC	Q8WWP7	GIMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)			3	939	+			UPI0000073C9B	284			Helical; Anchor for type IV membrane protein; (Potential).		SNV	GIMAP1,synonymous_variant,p.=,ENST00000307194,NM_130759.3;GIMAP5,upstream_gene_variant,,ENST00000498181,;GIMAP1,downstream_gene_variant,,ENST00000464461,;	uc003whq.2	c.852C>T	992/4420	2	2			c.852C>T						7	SNP	c.(850-852)GGC>GGT	35	35			ovary(1)|breast(1)|central_nervous_system(1)	3	Broad	GTPase, IMAP family member 1			150417944		0.687	ENSG00000213203	6265	g.chr7:150417944C>T		endoplasmic reticulum membrane|integral to membrane	GTP binding							20.494316	KEEP	7	8	-1	21	20	7	8	-1	21.407667	21	20	0.310345	1	0	0	0	0	0	0	1	0	--	--		0	T			GIMAP1_uc003whp.2_Silent_p.G292G	151	GBM-14-3476-TP	p.G284G	C	TGCTGGGGGGCGCGCTCCTGT	NM_130759	NP_570115	150417944	Q8WWP7	GIMA1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	939	+	T	T			Silent	284			Helical; Anchor for type IV membrane protein; (Potential).			
GIMAP1	0	broad.mit.edu	GRCh37	7	150417468	150417468	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01	TCGA-76-4935-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307194.5:c.376G>A	p.Ala126Thr	p.A126T	ENST00000307194	NM_130759.3	126	Gcc/Acc	0	A:0.0002		1			A	A/T	uc003whq.2	protein_coding	YES	CCDS5906.1			376/921									ovary(1)|breast(1)|central_nervous_system(1)	3	c.(376-378)GCC>ACC			PROSITE_profiles:PS51720,hmmpanther:PTHR10903,hmmpanther:PTHR10903:SF46,Gene3D:3.40.50.300,Pfam_domain:PF04548,Superfamily_domains:SSF52540	GTPase, IMAP family member 1			A:0.0001	ENSP00000302833		3-Mar	8.24E-06					1.54E-05			rs374968861,COSM206061	3-Mar	.		ENST00000307194	Transcript				endoplasmic reticulum membrane|integral to membrane	GTP binding	ENSG00000213203	g.chr7:150417468G>A	23237			MODERATE		0.395	neutral	getma.org/?cm=msa&ty=f&p=GIMA1_HUMAN&rb=28&re=238&var=A126T	getma.org/pdb.php?prot=GIMA1_HUMAN&from=28&to=238&var=A126T	getma.org/?cm=var&var=hg19,7,150417468,G,A&fts=all	A126T	--	--	1																																		GIMAP1_uc003whp.2_Missense_Mutation_p.A134T	0,1	1		benign(0.053)	p.A126T	NM_130759	NP_570115		tolerated(0.52)	0,1	GIMA1_HUMAN	GIMAP1	HGNC	Q8WWP7	GIMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)			3	463	+			UPI0000073C9B	126			Cytoplasmic (Potential).		SNV	GIMAP1,missense_variant,p.Ala126Thr,ENST00000307194,NM_130759.3;GIMAP5,upstream_gene_variant,,ENST00000498181,;GIMAP1,downstream_gene_variant,,ENST00000464461,;	uc003whq.2	c.376G>A	516/4420	1	1			c.376G>A						7	SNP	c.(376-378)GCC>ACC	54	54			ovary(1)|breast(1)|central_nervous_system(1)	3	Broad	GTPase, IMAP family member 1			150417468		0.637	ENSG00000213203	6265	g.chr7:150417468G>A		endoplasmic reticulum membrane|integral to membrane	GTP binding							26.442624	KEEP	9	12	-1	55	61	9	12	-1	39.874277	55	61	0.149123	1	0	0	0	0	1	0	0	0	--	--		0	A			GIMAP1_uc003whp.2_Missense_Mutation_p.A134T	273	GBM-76-4935-TP	p.A126T	G	TCGGTTCACCGCCCAGGACCA	NM_130759	NP_570115	150417468	Q8WWP7	GIMA1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	463	+	A	A			Missense_Mutation	126			Cytoplasmic (Potential).			
GIMAP2	0	broad.mit.edu	GRCh37	7	150390248	150390248	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0871-01	TCGA-14-0871-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000223293.5:c.874C>T	p.His292Tyr	p.H292Y	ENST00000223293	NM_015660.2	292	Cac/Tac	0			1			T	H/Y	uc003who.2	protein_coding	YES	CCDS5905.1			874/1014									skin(1)	1	c.(874-876)CAC>TAC			hmmpanther:PTHR10903:SF28,hmmpanther:PTHR10903	GTPase, IMAP family member 2				ENSP00000223293		3-Mar									COSM3411791	3-Mar	.		ENST00000223293	Transcript				integral to membrane	GTP binding	ENSG00000106560	g.chr7:150390248C>T	21789			MODERATE		-0.255	neutral	getma.org/?cm=msa&ty=f&p=GIMA2_HUMAN&rb=254&re=335&var=H292Y	NA	getma.org/?cm=var&var=hg19,7,150390248,C,T&fts=all	H292Y	--	--	1																																		GIMAP1_uc003whp.2_Intron	1	1		benign(0)	p.H292Y	NM_015660	NP_056475		tolerated(1)	1	GIMA2_HUMAN	GIMAP2	HGNC	Q9UG22	GIMA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)			3	962	+			UPI000006D114	292					SNV	GIMAP2,missense_variant,p.His292Tyr,ENST00000223293,NM_015660.2;GIMAP2,downstream_gene_variant,,ENST00000474605,;	uc003who.2	c.874C>T	968/1449	2	2			c.874C>T						7	SNP	c.(874-876)CAC>TAC	32	32			skin(1)	1	Broad	GTPase, IMAP family member 2			150390248		0.328	ENSG00000106560	6266	g.chr7:150390248C>T		integral to membrane	GTP binding							-5.040804	KEEP	7	9	-1	116	76	7	9	-1	30.44386	116	76	0.07732	1	0	0	0	0	1	0	0	0	--	--		0	T			GIMAP1_uc003whp.2_Intron	141	GBM-14-0871-TP	p.H292Y	C	TTGCATACTGCACAGCATGTG	NM_015660	NP_056475	150390248	Q9UG22	GIMA2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	962	+	T	T			Missense_Mutation	292						
GIMAP4	55303	broad.mit.edu	GRCh37	7	150269791	150269791	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255945.2:c.633C>T	p.Arg211=	p.R211=	ENST00000255945	NM_018326.2	211	cgC/cgT	0			1			T	R	uc003whl.2	protein_coding	YES	CCDS5904.1			633/990									ovary(1)	1	c.(631-633)CGC>CGT			Superfamily_domains:SSF52540,Pfam_domain:PF04548,Gene3D:3.40.50.300,hmmpanther:PTHR10903,hmmpanther:PTHR10903:SF38,PROSITE_profiles:PS51720	GTPase, IMAP family member 4				ENSP00000255945		3-Mar									COSM2151504	3-Mar	.		ENST00000255945	Transcript					GTP binding	ENSG00000133574	g.chr7:150269791C>T	21872			LOW								--	--	1																																		GIMAP4_uc011kuu.1_Silent_p.R72R|GIMAP4_uc011kuv.1_Silent_p.R225R	1	1			p.R211R	NM_018326	NP_060796			1	GIMA4_HUMAN	GIMAP4	HGNC	Q9NUV9	GIMA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)			3	715	+			UPI0000073CB0	211			Potential.		SNV	GIMAP4,synonymous_variant,p.=,ENST00000255945,NM_018326.2;GIMAP4,synonymous_variant,p.=,ENST00000461940,;GIMAP4,downstream_gene_variant,,ENST00000479232,;GIMAP4,non_coding_transcript_exon_variant,,ENST00000494750,;GIMAP4,downstream_gene_variant,,ENST00000478135,;	uc003whl.2	c.633C>T	808/2058	2	2			c.633C>T						7	SNP	c.(631-633)CGC>CGT	46	46			ovary(1)	1	Broad	GTPase, IMAP family member 4			150269791		0.542	ENSG00000133574	6267	g.chr7:150269791C>T			GTP binding							80.892028	KEEP	26	20	-1	67	55	26	20	-1	87.742516	67	55	0.276316	1	0	0	0	0	0	0	1	0	--	--		0	T			GIMAP4_uc011kuu.1_Silent_p.R72R|GIMAP4_uc011kuv.1_Silent_p.R225R	62	GBM-06-0649-TP	p.R211R	C	TGATCCAGCGCGTGGTGAGGG	NM_018326	NP_060796	150269791	Q9NUV9	GIMA4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	715	+	T	T			Silent	211			Potential.			
GIMAP4	0	broad.mit.edu	GRCh37	7	150269429	150269429	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs137872040		TCGA-06-6695-01	TCGA-06-6695-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255945.2:c.271G>A	p.Asp91Asn	p.D91N	ENST00000255945	NM_018326.2	91	Gac/Aac	0			1			A	D/N	uc003whl.2	protein_coding	YES	CCDS5904.1			271/990									ovary(1)	1	c.(271-273)GAC>AAC			Superfamily_domains:SSF52540,Pfam_domain:PF04548,Gene3D:3.40.50.300,hmmpanther:PTHR10903,hmmpanther:PTHR10903:SF38,PROSITE_profiles:PS51720	GTPase, IMAP family member 4				ENSP00000255945		3-Mar	8.24E-06	9.73E-05							rs753376384,COSM1087237,COSM3411788	3-Mar	.		ENST00000255945	Transcript					GTP binding	ENSG00000133574	g.chr7:150269429G>A	21872			MODERATE		2.455	medium	getma.org/?cm=msa&ty=f&p=GIMA4_HUMAN&rb=31&re=241&var=D91N	getma.org/pdb.php?prot=GIMA4_HUMAN&from=31&to=241&var=D91N	getma.org/?cm=var&var=hg19,7,150269429,G,A&fts=all	D91N	--	--	1																																		GIMAP4_uc011kuu.1_Intron|GIMAP4_uc011kuv.1_Missense_Mutation_p.D105N	0,1,1	1		possibly_damaging(0.777)	p.D91N	NM_018326	NP_060796		tolerated(0.06)	0,1,1	GIMA4_HUMAN	GIMAP4	HGNC	Q9NUV9	GIMA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)			3	353	+			UPI0000073CB0	91					SNV	GIMAP4,missense_variant,p.Asp91Asn,ENST00000255945,NM_018326.2;GIMAP4,missense_variant,p.Asp105Asn,ENST00000461940,;GIMAP4,missense_variant,p.Asp105Asn,ENST00000479232,;GIMAP4,non_coding_transcript_exon_variant,,ENST00000494750,;GIMAP4,non_coding_transcript_exon_variant,,ENST00000478135,;	uc003whl.2	c.271G>A	446/2058	2	2			c.271G>A						7	SNP	c.(271-273)GAC>AAC	27	27			ovary(1)	1	Broad	GTPase, IMAP family member 4			150269429		0.507	ENSG00000133574	6267	g.chr7:150269429G>A			GTP binding							39.65844	KEEP	12	9	-1	35	39	12	9	-1	45.46974	35	39	0.22619	1	0	0	0	0	1	0	0	0	--	--		0	A			GIMAP4_uc011kuu.1_Intron|GIMAP4_uc011kuv.1_Missense_Mutation_p.D105N	110	GBM-06-6695-TP	p.D91N	G	AGGCATTTTCGACACAGAGGT	NM_018326	NP_060796	150269429	Q9NUV9	GIMA4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	353	+	A	A			Missense_Mutation	91						
GIMAP5	55340	broad.mit.edu	GRCh37	7	150439564	150439564	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01	TCGA-06-2562-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358647.3:c.337G>A	p.Val113Ile	p.V113I	ENST00000358647	NM_018384.4	113	Gtc/Atc	0	A:0	A:0	1	A:0		A	V/I	uc003whr.1	protein_coding	YES	CCDS5907.1			337/924									ovary(1)|central_nervous_system(1)	2	c.(337-339)GTC>ATC			PROSITE_profiles:PS51720,hmmpanther:PTHR10903:SF7,hmmpanther:PTHR10903,Pfam_domain:PF04548,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	GTPase, IMAP family member 5		A:0	A:0.0002	ENSP00000351473	A:0	3-Mar	0.000412	9.62E-05			0.00181	0.000495		0.000242	rs201011395,COSM1087258	3-Mar	common_variant		ENST00000358647	Transcript		A:0.0002		integral to membrane|mitochondrial outer membrane	GTP binding	ENSG00000196329	g.chr7:150439564G>A	18005			MODERATE		2.11	medium	getma.org/?cm=msa&ty=f&p=GIMA5_HUMAN&rb=28&re=239&var=V113I	getma.org/pdb.php?prot=GIMA5_HUMAN&from=28&to=239&var=V113I	getma.org/?cm=var&var=hg19,7,150439564,G,A&fts=all	V113I	--	--	1																																		GIMAP5_uc010lpu.2_5'UTR	0,1	1		probably_damaging(0.964)	p.V113I	NM_018384	NP_060854	A:0.001	deleterious(0)	0,1	GIMA5_HUMAN	GIMAP5	HGNC	Q96F15	GIMA5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	B4DNE2_HUMAN		3	689	+			UPI000004EC77	113			Cytoplasmic (Potential).		SNV	GIMAP5,missense_variant,p.Val113Ile,ENST00000358647,NM_018384.4;GIMAP5,non_coding_transcript_exon_variant,,ENST00000479556,;GIMAP5,non_coding_transcript_exon_variant,,ENST00000493304,;GIMAP5,intron_variant,,ENST00000466347,;GIMAP5,downstream_gene_variant,,ENST00000498181,;GIMAP5,non_coding_transcript_exon_variant,,ENST00000476324,;GIMAP5,downstream_gene_variant,,ENST00000469272,;RP5-1051J4.6,downstream_gene_variant,,ENST00000495150,;RP5-1051J4.6,downstream_gene_variant,,ENST00000313192,;	uc003whr.1	c.337G>A	704/2291	2	2			c.337G>A						7	SNP	c.(337-339)GTC>ATC	21	21			ovary(1)|central_nervous_system(1)	2	Broad	GTPase, IMAP family member 5			150439564		0.587	ENSG00000196329	6268	g.chr7:150439564G>A		integral to membrane|mitochondrial outer membrane	GTP binding							182.552734	KEEP	37	42	-1	88	108	37	42	-1	193.428481	88	108	0.28	1	0	0	0	0	1	0	0	0	--	--		0	A			GIMAP5_uc010lpu.2_5'UTR	85	GBM-06-2562-TP	p.V113I	G	GGGGCCCCACGTCCTGCTTCT	NM_018384	NP_060854	150439564	Q96F15	GIMA5_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	689	+	A	A			Missense_Mutation	113			Cytoplasmic (Potential).			
GIMAP5	0	broad.mit.edu	GRCh37	7	150440111	150440111	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-14-0871-01	TCGA-14-0871-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358647.3:c.884T>A	p.Leu295His	p.L295H	ENST00000358647	NM_018384.4	295	cTt/cAt	0			1			A	L/H	uc003whr.1	protein_coding	YES	CCDS5907.1			884/924									ovary(1)|central_nervous_system(1)	2	c.(883-885)CTT>CAT			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10903:SF7,hmmpanther:PTHR10903	GTPase, IMAP family member 5				ENSP00000351473		3-Mar									COSM3411792	3-Mar	.		ENST00000358647	Transcript				integral to membrane|mitochondrial outer membrane	GTP binding	ENSG00000196329	g.chr7:150440111T>A	18005			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=GIMA5_HUMAN&rb=240&re=307&var=L295H	NA	getma.org/?cm=var&var=hg19,7,150440111,T,A&fts=all	L295H	--	--	1																																		GIMAP5_uc010lpu.2_Missense_Mutation_p.L153H	1	1		benign(0.184)	p.L295H	NM_018384	NP_060854		deleterious(0.01)	1	GIMA5_HUMAN	GIMAP5	HGNC	Q96F15	GIMA5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	B4DNE2_HUMAN		3	1236	+			UPI000004EC77	295			Helical; Anchor for type IV membrane protein; (Potential).		SNV	GIMAP5,missense_variant,p.Leu295His,ENST00000358647,NM_018384.4;GIMAP5,non_coding_transcript_exon_variant,,ENST00000479556,;GIMAP5,intron_variant,,ENST00000466347,;GIMAP5,downstream_gene_variant,,ENST00000493304,;GIMAP5,downstream_gene_variant,,ENST00000498181,;GIMAP5,non_coding_transcript_exon_variant,,ENST00000476324,;GIMAP5,downstream_gene_variant,,ENST00000469272,;RP5-1051J4.6,downstream_gene_variant,,ENST00000495150,;RP5-1051J4.6,downstream_gene_variant,,ENST00000313192,;	uc003whr.1	c.884T>A	1251/2291	2	2			c.884T>A						7	SNP	c.(883-885)CTT>CAT	33	33			ovary(1)|central_nervous_system(1)	2	Broad	GTPase, IMAP family member 5			150440111		0.368	ENSG00000196329	6268	g.chr7:150440111T>A		integral to membrane|mitochondrial outer membrane	GTP binding							162.247485	KEEP	37	22	-1	70	68	37	22	-1	168.327378	70	68	0.310526	1	0	0	0	0	1	0	0	0	--	--		0	A			GIMAP5_uc010lpu.2_Missense_Mutation_p.L153H	141	GBM-14-0871-TP	p.L295H	T	TGCAGCATACTTTTTTTCATT	NM_018384	NP_060854	150440111	Q96F15	GIMA5_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1236	+	A	A			Missense_Mutation	295			Helical; Anchor for type IV membrane protein; (Potential).			
GIMAP6	474344	broad.mit.edu	GRCh37	7	150325381	150325381	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0216-01	TCGA-06-0216-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328902.5:c.305C>T	p.Pro102Leu	p.P102L	ENST00000328902	NM_024711.5	102	cCc/cTc	0			1			A	P/L	uc003whn.2	protein_coding	YES	CCDS34778.1			305/879									upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	c.(304-306)CCC>CTC			PROSITE_profiles:PS51720,hmmpanther:PTHR10903:SF51,hmmpanther:PTHR10903,Pfam_domain:PF04548,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	GTPase, IMAP family member 6				ENSP00000330374		3-Mar									COSM3411790	3-Mar	.		ENST00000328902	Transcript					GTP binding	ENSG00000133561	g.chr7:150325381G>A	21918			MODERATE		1.895	low	getma.org/?cm=msa&ty=f&p=GIMA6_HUMAN&rb=41&re=252&var=P102L	getma.org/pdb.php?prot=GIMA6_HUMAN&from=41&to=252&var=P102L	getma.org/?cm=var&var=hg19,7,150325381,G,A&fts=all	P102L	--	--	1																																		GIMAP6_uc003whm.2_Intron	1	1		benign(0.113)	p.P102L	NM_024711	NP_078987		tolerated(0.19)	1	GIMA6_HUMAN	GIMAP6	HGNC	Q6P9H5	GIMA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)			3	729	-			UPI00001AE78F	102					SNV	GIMAP6,missense_variant,p.Pro102Leu,ENST00000328902,NM_024711.5,NM_001244072.1;GIMAP6,splice_region_variant,,ENST00000493969,NM_001244071.1;	uc003whn.2	c.305C>T	522/3440	2	2			c.305C>T						7	SNP	c.(304-306)CCC>CTC	47	47			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	Broad	GTPase, IMAP family member 6			150325381		0.622	ENSG00000133561	6269	g.chr7:150325381G>A			GTP binding							85.176549	KEEP	23	21	-1	127	59	23	21	-1	103.985986	127	59	0.190476	1	0	0	0	0	1	0	0	0	--	--		0	A			GIMAP6_uc003whm.2_Intron	51	GBM-06-0216-TP	p.P102L	G	CGAGACCTGGGGGGACAGAAT	NM_024711	NP_078987	150325381	Q6P9H5	GIMA6_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	729	-	A	A			Missense_Mutation	102						
GIMAP6	474344	broad.mit.edu	GRCh37	7	150324938	150324938	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328902.5:c.748G>A	p.Glu250Lys	p.E250K	ENST00000328902	NM_024711.5	250	Gaa/Aaa	0			1			T	E/K	uc003whn.2	protein_coding	YES	CCDS34778.1			748/879									upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	c.(748-750)GAA>AAA			hmmpanther:PTHR10903:SF51,hmmpanther:PTHR10903	GTPase, IMAP family member 6				ENSP00000330374		3-Mar									COSM3411789	3-Mar	.		ENST00000328902	Transcript					GTP binding	ENSG00000133561	g.chr7:150324938C>T	21918			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=GIMA6_HUMAN&rb=41&re=252&var=E250K	getma.org/pdb.php?prot=GIMA6_HUMAN&from=41&to=252&var=E250K	getma.org/?cm=var&var=hg19,7,150324938,C,T&fts=all	E250K	--	--	1																																		GIMAP6_uc003whm.2_Missense_Mutation_p.E170K	1	1		benign(0.15)	p.E250K	NM_024711	NP_078987		tolerated(0.07)	1	GIMA6_HUMAN	GIMAP6	HGNC	Q6P9H5	GIMA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)			3	1172	-			UPI00001AE78F	250					SNV	GIMAP6,missense_variant,p.Glu250Lys,ENST00000328902,NM_024711.5,NM_001244072.1;GIMAP6,3_prime_UTR_variant,,ENST00000493969,NM_001244071.1;	uc003whn.2	c.748G>A	965/3440	1	1			c.748G>A						7	SNP	c.(748-750)GAA>AAA	9	9			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	Broad	GTPase, IMAP family member 6			150324938		0.493	ENSG00000133561	6269	g.chr7:150324938C>T			GTP binding							212.928672	KEEP	42	40	-1	110	107	42	40	-1	225.437245	110	107	0.27758	1	0	0	0	0	1	0	0	0	--	--		0	T			GIMAP6_uc003whm.2_Missense_Mutation_p.E170K	65	GBM-06-0743-TP	p.E250K	C	ACTTGCCTTTCCTGTAGTTCT	NM_024711	NP_078987	150324938	Q6P9H5	GIMA6_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1172	-	T	T			Missense_Mutation	250						
GIMAP8	0	broad.mit.edu	GRCh37	7	150171329	150171329	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-1830-01	TCGA-27-1830-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307271.3:c.912G>A	p.Pro304=	p.P304=	ENST00000307271	NM_175571.2	304	ccG/ccA	0			1			A	P	uc003whj.2	protein_coding	YES	CCDS34777.1			912/1998									skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	c.(910-912)CCG>CCA			Superfamily_domains:SSF52540,Gene3D:3.40.50.300,Pfam_domain:PF04548,hmmpanther:PTHR10903,hmmpanther:PTHR10903:SF45,PROSITE_profiles:PS51720	GTPase, IMAP family member 8				ENSP00000305107		5-Apr	2.47E-05					4.50E-05			rs768970689,COSM1087222	5-Apr	.		ENST00000307271	Transcript				endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	ENSG00000171115	g.chr7:150171329G>A	21792			LOW								--	--	1																																			0,1	1			p.P304P	NM_175571	NP_783161			0,1	GIMA8_HUMAN	GIMAP8	HGNC	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)			4	1242	+			UPI0000168646	304					SNV	GIMAP8,synonymous_variant,p.=,ENST00000307271,NM_175571.2;	uc003whj.2	c.912G>A	1486/4184	2	2			c.912G>A						7	SNP	c.(910-912)CCG>CCA	42	42			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Broad	GTPase, IMAP family member 8			150171329		0.458	ENSG00000171115	6271	g.chr7:150171329G>A		endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding							105.503435	KEEP	28	22	-1	99	106	28	22	-1	126.766645	99	106	0.189873	1	0	0	0	0	0	0	1	0	--	--		0	A				189	GBM-27-1830-TP	p.P304P	G	TTGATGCTCCGGACATCTCAT	NM_175571	NP_783161	150171329	Q8ND71	GIMA8_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	4	1242	+	A	A			Silent	304						
GIPC1	0	broad.mit.edu	GRCh37	19	14591540	14591540	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-14-0789-01	TCGA-14-0789-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345425.2:c.339G>C	p.Leu113=	p.L113=	ENST00000345425	NM_202470.2	113	ctG/ctC	0			1			G	L	uc002myt.2	protein_coding		CCDS12310.1			339/1002										0	c.(337-339)CTG>CTC			PIRSF_domain:PIRSF038083,hmmpanther:PTHR12259,hmmpanther:PTHR12259:SF4,Superfamily_domains:SSF50156	regulator of G-protein signalling 19 interacting				ENSP00000340698		7-Mar									COSM3403830	7-Mar	.		ENST00000345425	Transcript			endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding	ENSG00000123159	g.chr19:14591540C>G	1226			LOW								--	--	1																																OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	GIPC1_uc002myu.2_Silent_p.L113L|GIPC1_uc002myv.2_Silent_p.L16L|GIPC1_uc002myw.2_Silent_p.L16L|GIPC1_uc002myx.2_Silent_p.L113L|GIPC1_uc002myy.2_Silent_p.L16L	1				p.L113L	NM_005716	NP_005707			1	GIPC1_HUMAN	GIPC1	HGNC	O14908	GIPC1_HUMAN			K7ESN1_HUMAN,K7ELJ2_HUMAN,K7EIT0_HUMAN		5	609	-			UPI000012B4BB	113					SNV	GIPC1,synonymous_variant,p.=,ENST00000393033,NM_005716.3;GIPC1,synonymous_variant,p.=,ENST00000345425,NM_202470.2;GIPC1,synonymous_variant,p.=,ENST00000393029,;GIPC1,synonymous_variant,p.=,ENST00000393028,NM_202494.2;GIPC1,synonymous_variant,p.=,ENST00000586027,NM_202468.2;GIPC1,synonymous_variant,p.=,ENST00000591349,NM_202469.2;GIPC1,synonymous_variant,p.=,ENST00000587210,;GIPC1,synonymous_variant,p.=,ENST00000587969,;GIPC1,upstream_gene_variant,,ENST00000589631,;GIPC1,downstream_gene_variant,,ENST00000587934,;GIPC1,downstream_gene_variant,,ENST00000591245,;GIPC1,synonymous_variant,p.=,ENST00000589497,;GIPC1,upstream_gene_variant,,ENST00000585606,;GIPC1,downstream_gene_variant,,ENST00000587811,;	uc002myt.2	c.339G>C	465/1782	3	3			c.339G>C						19	SNP	c.(337-339)CTG>CTC	64	64				0	Broad	regulator of G-protein signalling 19 interacting			14591540		0.612	ENSG00000123159	6278	g.chr19:14591540C>G	endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding	Pancreas(33;78 923 2910 41023 52850)			Pancreas(33;78 923 2910 41023 52850)			97.740458	KEEP	33	24	-1	145	132	33	24	-1	129.230749	145	132	0.162069	1	0	0	0	0	0	0	1	0	--	--		0	G	OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	GIPC1_uc002myu.2_Silent_p.L113L|GIPC1_uc002myv.2_Silent_p.L16L|GIPC1_uc002myw.2_Silent_p.L16L|GIPC1_uc002myx.2_Silent_p.L113L|GIPC1_uc002myy.2_Silent_p.L16L	136	GBM-14-0789-TP	p.L113L	C	TCTGGCCCCCCAGGAGCTTGT	NM_005716	NP_005707	14591540	O14908	GIPC1_HUMAN	0			5	609	-	G	G			Silent	113						
GJA10	0	broad.mit.edu	GRCh37	6	90605129	90605129	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-28-5213-01	TCGA-28-5213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369352.1:c.942C>A	p.Asp314Glu	p.D314E	ENST00000369352	NM_032602.1	314	gaC/gaA	0			1			A	D/E	uc011eaa.1	protein_coding	YES	CCDS5025.1			942/1632										0	c.(940-942)GAC>GAA			hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF9	gap junction protein, alpha 10				ENSP00000358358		1-Jan									COSM3411337	1-Jan	.		ENST00000369352	Transcript			synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	ENSG00000135355	g.chr6:90605129C>A	16995			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=CXA10_HUMAN&rb=234&re=541&var=D314E	NA	getma.org/?cm=var&var=hg19,6,90605129,C,A&fts=all	D314E	--	--	1																																			1	1		benign(0.156)	p.D314E	NM_032602	NP_115991		tolerated(0.3)	1	CXA10_HUMAN	GJA10	HGNC	Q969M2	CXA10_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0915)			1	942	+		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	UPI0000049B8F	314			Cytoplasmic (Potential).		SNV	GJA10,missense_variant,p.Asp314Glu,ENST00000369352,NM_032602.1;Y_RNA,downstream_gene_variant,,ENST00000517082,;	uc011eaa.1	c.942C>A	942/1652	2	2			c.942C>A						6	SNP	c.(940-942)GAC>GAA	41	41				0	Broad	gap junction protein, alpha 10			90605129		0.498	ENSG00000135355	6285	g.chr6:90605129C>A	synaptic transmission	connexon complex|integral to membrane	gap junction channel activity							-9.843147	KEEP	3	0	-1	44	30	3	0	-1	7.262762	44	30	0.04	1	0	0	0	0	1	0	0	0	--	--		0	A				220	GBM-28-5213-TP	p.D314E	C	TTGAAGTAGACCCTTCCAATG	NM_032602	NP_115991	90605129	Q969M2	CXA10_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.0915)	1	942	+	A	A		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	Missense_Mutation	314			Cytoplasmic (Potential).			
GJA8	0	broad.mit.edu	GRCh37	1	147380346	147380346	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0786-01	TCGA-14-0786-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369235.1:c.264G>A	p.Pro88=	p.P88=	ENST00000369235		88	ccG/ccA	0			1			A	P	uc001epu.1	protein_coding		CCDS30834.1			264/1302									ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	c.(262-264)CCG>CCA			Gene3D:2zw3A00,Pfam_domain:PF00029,Prints_domain:PR00206,hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF19,Transmembrane_helices:TMhelix	connexin 50				ENSP00000358238		1-Jan									COSM3399677	1-Jan	.		ENST00000369235	Transcript	1		cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	ENSG00000121634	g.chr1:147380346G>A	4281			LOW								--	--	1																																			1				p.P88P	NM_005267	NP_005258			1	CXA8_HUMAN	GJA8	HGNC	P48165	CXA8_HUMAN					2	327	+	all_hematologic(923;0.0276)		UPI0000049BA0	88		P -> S (in CZP1).	Helical; (Potential).		SNV	GJA8,synonymous_variant,p.=,ENST00000240986,NM_005267.4;GJA8,synonymous_variant,p.=,ENST00000369235,;	uc001epu.1	c.264G>A	264/1302	2	2			c.264G>A						1	SNP	c.(262-264)CCG>CCA	21	21			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	Broad	connexin 50			147380346		0.642	ENSG00000121634	6289	g.chr1:147380346G>A	cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	Melanoma(76;1255 1795 8195 52096)			Melanoma(76;1255 1795 8195 52096)			172.178805	KEEP	30	36	-1	28	31	30	36	-1	172.279711	28	31	0.53271	1	0	0	0	0	0	0	1	0	--	--		0	A				134	GBM-14-0786-TP	p.P88P	G	TCTCCACCCCGTCCCTGATGT	NM_005267	NP_005258	147380346	P48165	CXA8_HUMAN	0			2	327	+	A	A	all_hematologic(923;0.0276)		Silent	88		P -> S (in CZP1).	Helical; (Potential).			
GJA8	0	broad.mit.edu	GRCh37	1	147380211	147380211	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-3392-01	TCGA-41-3392-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369235.1:c.129C>T	p.Phe43=	p.F43=	ENST00000369235		43	ttC/ttT	0			1			T	F	uc001epu.1	protein_coding		CCDS30834.1			129/1302						not_provided			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	c.(127-129)TTC>TTT			Gene3D:2zw3A00,Pfam_domain:PF00029,Prints_domain:PR00206,hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF19,SMART_domains:SM00037,Transmembrane_helices:TMhelix	connexin 50				ENSP00000358238		1-Jan									rs267598000,COSM2121846	1-Jan	.		ENST00000369235	Transcript	1		cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	ENSG00000121634	g.chr1:147380211C>T	4281			LOW								--	--	1																																			1,1				p.F43F	NM_005267	NP_005258			0,1	CXA8_HUMAN	GJA8	HGNC	P48165	CXA8_HUMAN					2	192	+	all_hematologic(923;0.0276)		UPI0000049BA0	43			Helical; (Potential).		SNV	GJA8,synonymous_variant,p.=,ENST00000240986,NM_005267.4;GJA8,synonymous_variant,p.=,ENST00000369235,;	uc001epu.1	c.129C>T	129/1302	2	2			c.129C>T						1	SNP	c.(127-129)TTC>TTT	45	45			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	Broad	connexin 50			147380211		0.592	ENSG00000121634	6289	g.chr1:147380211C>T	cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	Melanoma(76;1255 1795 8195 52096)			Melanoma(76;1255 1795 8195 52096)			173.207978	KEEP	30	29	-1	29	30	30	29	-1	173.207978	29	30	0.5	1	0	0	0	0	0	0	1	0	--	--		0	T				254	GBM-41-3392-TP	p.F43F	C	CCGCAGAGTTCGTGTGGGGGG	NM_005267	NP_005258	147380211	P48165	CXA8_HUMAN	0			2	192	+	T	T	all_hematologic(923;0.0276)		Silent	43			Helical; (Potential).			
GJA8	0	broad.mit.edu	GRCh37	1	147380445	147380445	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4927-01	TCGA-76-4927-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369235.1:c.363C>T	p.Asn121=	p.N121=	ENST00000369235		121	aaC/aaT	0			1			T	N	uc001epu.1	protein_coding		CCDS30834.1			363/1302									ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	c.(361-363)AAC>AAT			Gene3D:2zw3A00,hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF19	connexin 50				ENSP00000358238		1-Jan									COSM895331	1-Jan	.		ENST00000369235	Transcript	1		cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	ENSG00000121634	g.chr1:147380445C>T	4281			LOW								--	--	1																																			1				p.N121N	NM_005267	NP_005258			1	CXA8_HUMAN	GJA8	HGNC	P48165	CXA8_HUMAN					2	426	+	all_hematologic(923;0.0276)		UPI0000049BA0	121			Cytoplasmic (Potential).		SNV	GJA8,synonymous_variant,p.=,ENST00000240986,NM_005267.4;GJA8,synonymous_variant,p.=,ENST00000369235,;	uc001epu.1	c.363C>T	363/1302	1	1			c.363C>T						1	SNP	c.(361-363)AAC>AAT	4	4			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	Broad	connexin 50			147380445		0.657	ENSG00000121634	6289	g.chr1:147380445C>T	cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	Melanoma(76;1255 1795 8195 52096)			Melanoma(76;1255 1795 8195 52096)			73.173184	KEEP	21	30	-1	46	50	21	30	-1	74.762378	46	50	0.35	1	0	0	0	0	0	0	1	0	--	--		0	T				267	GBM-76-4927-TP	p.N121N	C	CGGGGACTAACGGCGGCCCGG	NM_005267	NP_005258	147380445	P48165	CXA8_HUMAN	0			2	426	+	T	T	all_hematologic(923;0.0276)		Silent	121			Cytoplasmic (Potential).			
GJA9	0	broad.mit.edu	GRCh37	1	39340374	39340374	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-4211-01	TCGA-32-4211-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357771.3:c.1397A>G	p.Asp466Gly	p.D466G	ENST00000357771	NM_030772.4	466	gAc/gGc	0			1			C	D/G	uc001cct.1	protein_coding	YES	CCDS432.1			1397/1548										0	c.(1396-1398)GAC>GGC				gap junction protein, alpha 9, 59kDa				ENSP00000350415		2-Feb									COSM2157362	2-Feb	.		ENST00000357771	Transcript			cell communication	connexon complex|integral to membrane		ENSG00000131233	g.chr1:39340374T>C	19155			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=CXA9_HUMAN&rb=402&re=513&var=D466G	NA	getma.org/?cm=var&var=hg19,1,39340374,T,C&fts=all	D466G	--	--	1																																		RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank	1	1		benign(0.027)	p.D466G	NM_030772	NP_110399		tolerated(0.15)	1	CXA9_HUMAN	GJA9	HGNC	P57773	CXA9_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)				2	1678	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	UPI000006E09A	466			Cytoplasmic (Potential).		SNV	GJA9,missense_variant,p.Asp466Gly,ENST00000357771,NM_030772.4;GJA9,missense_variant,p.Asp466Gly,ENST00000360786,;GJA9,intron_variant,,ENST00000454994,;MYCBP,upstream_gene_variant,,ENST00000397572,NM_012333.4;RP5-864K19.4,intron_variant,,ENST00000433671,;RP5-864K19.4,intron_variant,,ENST00000456813,;RP5-864K19.4,intron_variant,,ENST00000443161,;MYCBP,non_coding_transcript_exon_variant,,ENST00000489803,;MYCBP,intron_variant,,ENST00000489575,;MYCBP,upstream_gene_variant,,ENST00000462027,;MYCBP,upstream_gene_variant,,ENST00000495043,;MYCBP,upstream_gene_variant,,ENST00000494695,;MYCBP,upstream_gene_variant,,ENST00000465771,;	uc001cct.1	c.1397A>G	1678/2313	3	3			c.1397A>G						1	SNP	c.(1396-1398)GAC>GGC	55	55				0	Broad	gap junction protein, alpha 9, 59kDa			39340374		0.493	ENSG00000131233	6290	g.chr1:39340374T>C	cell communication	connexon complex|integral to membrane								130.546423	KEEP	27	15	-1	58	56	27	15	-1	136.78023	58	56	0.27972	1	0	0	0	0	1	0	0	0	--	--		0	C			RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank	246	GBM-32-4211-TP	p.D466G	T	GTTTGGAATGTCAAGTGATTG	NM_030772	NP_110399	39340374	P57773	CXA9_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)		2	1678	-	C	C	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	Missense_Mutation	466			Cytoplasmic (Potential).			
GJB3	2707	broad.mit.edu	GRCh37	1	35250842	35250842	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01	TCGA-02-0055-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373366.2:c.479G>A	p.Arg160His	p.R160H	ENST00000373366	NM_024009.2	160	cGc/cAc	0	A:0.0005	A:0	1	A:0.0014		A	R/H	uc001bxx.2	protein_coding		CCDS384.1			479/813						uncertain_significance				0	c.(478-480)CGC>CAC			hmmpanther:PTHR11984:SF29,hmmpanther:PTHR11984,Pfam_domain:PF10582,Gene3D:2zw3A00,SMART_domains:SM01089	connexin 31		A:0	A:0.0005	ENSP00000362460	A:0	2-Feb	0.00139	0.000289	0.0115		0.000151	0.000465	0.0011		rs200055020,COSM908580	2-Feb	common_variant		ENST00000373362	Transcript	1	A:0.0002	cell communication	connexon complex|integral to membrane	gap junction channel activity	ENSG00000188910	g.chr1:35250842G>A	4285			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=CXB3_HUMAN&rb=141&re=209&var=R160H	getma.org/pdb.php?prot=CXB3_HUMAN&from=141&to=209&var=R160H	getma.org/?cm=var&var=hg19,1,35250842,G,A&fts=all	R160H	--	--	1																																		GJB3_uc001bxy.2_Missense_Mutation_p.R160H|GJB3_uc001bxz.3_Missense_Mutation_p.R160H|uc010ohs.1_RNA	1,1			probably_damaging(0.977)	p.R160H	NM_024009	NP_076872	A:0	tolerated(0.18)	0,1	CXB3_HUMAN	GJB3	HGNC	O75712	CXB3_HUMAN			A1YRJ5_HUMAN		2	1094	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	UPI00001287EC	160			Extracellular (Potential).		SNV	GJB3,missense_variant,p.Arg160His,ENST00000373366,NM_024009.2;GJB3,missense_variant,p.Arg160His,ENST00000373362,NM_001005752.1;RP1-34M23.5,intron_variant,,ENST00000542839,;SMIM12,intron_variant,,ENST00000426886,;	uc001bxx.2	c.479G>A	669/1797	2	2			c.479G>A						1	SNP	c.(478-480)CGC>CAC	33	33				0	Broad	connexin 31			35250842		0.552	ENSG00000188910	6293	g.chr1:35250842G>A	cell communication	connexon complex|integral to membrane	gap junction channel activity							152.121817	KEEP	34	30	-1	60	63	34	30	-1	155.664236	60	63	0.345238	1	0	0	0	0	1	0	0	0	--	--		0	A			GJB3_uc001bxy.2_Missense_Mutation_p.R160H|GJB3_uc001bxz.3_Missense_Mutation_p.R160H|uc010ohs.1_RNA	4	GBM-02-0055-TP	p.R160H	G	AATATGCCGCGCCTGGTGCAG	NM_024009	NP_076872	35250842	O75712	CXB3_HUMAN	0			2	1094	+	A	A		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	Missense_Mutation	160			Extracellular (Potential).			
GJB3	0	broad.mit.edu	GRCh37	1	35250842	35250842	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1833-01	TCGA-27-1833-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373362.3:c.479G>A	p.Arg160His	p.R160H	ENST00000373362	NM_001005752.1	160	cGc/cAc	0	A:0.0005	A:0	1	A:0.0014		A	R/H	uc001bxx.2	protein_coding		CCDS384.1			479/813						uncertain_significance				0	c.(478-480)CGC>CAC			hmmpanther:PTHR11984:SF29,hmmpanther:PTHR11984,Pfam_domain:PF10582,Gene3D:2zw3A00,SMART_domains:SM01089	connexin 31		A:0	A:0.0005	ENSP00000362460	A:0	2-Feb	0.00139	0.000289	0.0115		0.000151	0.000465	0.0011		rs200055020,COSM908580	2-Feb	common_variant		ENST00000373362	Transcript	1	A:0.0002	cell communication	connexon complex|integral to membrane	gap junction channel activity	ENSG00000188910	g.chr1:35250842G>A	4285			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=CXB3_HUMAN&rb=141&re=209&var=R160H	getma.org/pdb.php?prot=CXB3_HUMAN&from=141&to=209&var=R160H	getma.org/?cm=var&var=hg19,1,35250842,G,A&fts=all	R160H	--	--	1																																		GJB3_uc001bxy.2_Missense_Mutation_p.R160H|GJB3_uc001bxz.3_Missense_Mutation_p.R160H|uc010ohs.1_RNA	1,1			probably_damaging(0.977)	p.R160H	NM_024009	NP_076872	A:0	tolerated(0.18)	0,1	CXB3_HUMAN	GJB3	HGNC	O75712	CXB3_HUMAN			A1YRJ5_HUMAN		2	1094	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	UPI00001287EC	160			Extracellular (Potential).		SNV	GJB3,missense_variant,p.Arg160His,ENST00000373366,NM_024009.2;GJB3,missense_variant,p.Arg160His,ENST00000373362,NM_001005752.1;RP1-34M23.5,intron_variant,,ENST00000542839,;SMIM12,intron_variant,,ENST00000426886,;	uc001bxx.2	c.479G>A	669/1797	2	2			c.479G>A						1	SNP	c.(478-480)CGC>CAC	33	33				0	Broad	connexin 31			35250842		0.552	ENSG00000188910	6293	g.chr1:35250842G>A	cell communication	connexon complex|integral to membrane	gap junction channel activity							-29.737028	KEEP	1	4	-1	78	92	1	4	-1	8.171897	78	92	0.031646	1	0	0	0	0	1	0	0	0	--	--		0	A			GJB3_uc001bxy.2_Missense_Mutation_p.R160H|GJB3_uc001bxz.3_Missense_Mutation_p.R160H|uc010ohs.1_RNA	192	GBM-27-1833-TP	p.R160H	G	AATATGCCGCGCCTGGTGCAG	NM_024009	NP_076872	35250842	O75712	CXB3_HUMAN	0			2	1094	+	A	A		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	Missense_Mutation	160			Extracellular (Potential).			
GJB4	127534	broad.mit.edu	GRCh37	1	35227182	35227182	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2557-01	TCGA-06-2557-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339480.1:c.327C>T	p.His109=	p.H109=	ENST00000339480	NM_153212.2	109	caC/caT	0	T:0.0002		1			T	H	uc001bxv.1	protein_coding	YES	CCDS383.1			327/801									ovary(2)|central_nervous_system(1)	3	c.(325-327)CAC>CAT			Gene3D:2zw3A00,hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF30	gap junction protein, beta 4			T:0	ENSP00000345868		2-Feb	4.12E-05	0.000385						6.06E-05	rs374919180,COSM3400709	2-Feb	.		ENST00000339480	Transcript	1		cell communication	connexon complex|integral to membrane	gap junction channel activity	ENSG00000189433	g.chr1:35227182C>T	4286			LOW								--	--	1																																		GJB4_uc001bxw.3_Silent_p.H109H	0,1	1			p.H109H	NM_153212	NP_694944			0,1	CXB4_HUMAN	GJB4	HGNC	Q9NTQ9	CXB4_HUMAN					2	697	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	UPI0000051E4B	109			Cytoplasmic (Potential).		SNV	GJB4,synonymous_variant,p.=,ENST00000339480,NM_153212.2;GJB5,downstream_gene_variant,,ENST00000338513,NM_005268.3;RP1-34M23.5,non_coding_transcript_exon_variant,,ENST00000542839,;SMIM12,intron_variant,,ENST00000426886,;	uc001bxv.1	c.327C>T	697/2840	2	2			c.327C>T						1	SNP	c.(325-327)CAC>CAT	48	48			ovary(2)|central_nervous_system(1)	3	Broad	gap junction protein, beta 4			35227182		0.632	ENSG00000189433	6294	g.chr1:35227182C>T	cell communication	connexon complex|integral to membrane	gap junction channel activity							-5.472571	KEEP	4	2	-1	43	37	4	2	-1	10.199355	43	37	0.063291	1	0	0	0	0	0	0	1	0	--	--		0	T			GJB4_uc001bxw.3_Silent_p.H109H	81	GBM-06-2557-TP	p.H109H	C	ACCTGAAACACGGGCCCAATG	NM_153212	NP_694944	35227182	Q9NTQ9	CXB4_HUMAN	0			2	697	+	T	T		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	Silent	109			Cytoplasmic (Potential).			
GJB5	2709	broad.mit.edu	GRCh37	1	35223555	35223555	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0195-01	TCGA-06-0195-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338513.1:c.624G>A	p.Leu208=	p.L208=	ENST00000338513	NM_005268.3	208	ctG/ctA	0			1			A	L	uc001bxu.2	protein_coding	YES	CCDS382.1			624/822									ovary(1)	1	c.(622-624)CTG>CTA			Gene3D:2zw3A00,Pfam_domain:PF10582,Prints_domain:PR00206,hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF28,SMART_domains:SM01089,Transmembrane_helices:TMhelix	gap junction protein, beta 5, 31.1kDa				ENSP00000340811		2-Feb									COSM3400708	2-Feb	.		ENST00000338513	Transcript			cell communication|epidermis development	connexon complex|integral to membrane		ENSG00000189280	g.chr1:35223555G>A	4287			LOW								--	--	1																																		GJB4_uc001bxv.1_5'Flank	1	1			p.L208L	NM_005268	NP_005259			1	CXB5_HUMAN	GJB5	HGNC	O95377	CXB5_HUMAN					2	724	+		Myeloproliferative disorder(586;0.0393)	UPI0000051E62	208			Helical; (Potential).		SNV	GJB5,synonymous_variant,p.=,ENST00000338513,NM_005268.3;GJB4,upstream_gene_variant,,ENST00000339480,NM_153212.2;RP1-34M23.5,downstream_gene_variant,,ENST00000542839,;SMIM12,intron_variant,,ENST00000426886,;	uc001bxu.2	c.624G>A	797/1355	1	1			c.624G>A						1	SNP	c.(622-624)CTG>CTA	64	64			ovary(1)	1	Broad	gap junction protein, beta 5, 31.1kDa			35223555		0.552	ENSG00000189280	6295	g.chr1:35223555G>A	cell communication|epidermis development	connexon complex|integral to membrane								186.921097	KEEP	32	35	-1	48	69	32	35	-1	189.565805	48	69	0.369318	1	0	0	0	0	0	0	1	0	--	--		0	A			GJB4_uc001bxv.1_5'Flank	45	GBM-06-0195-TP	p.L208L	G	TCATCTACCTGGTGAGCAAGA	NM_005268	NP_005259	35223555	O95377	CXB5_HUMAN	0			2	724	+	A	A		Myeloproliferative disorder(586;0.0393)	Silent	208			Helical; (Potential).			
GJC1	0	broad.mit.edu	GRCh37	17	42882694	42882694	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0616-01	TCGA-12-0616-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330514.4:c.492C>T	p.Gly164=	p.G164=	ENST00000330514		164	ggC/ggT	0			1			A	G	uc002ihj.2	protein_coding		CCDS11487.1			492/1191										0	c.(490-492)GGC>GGT			Gene3D:2zw3A00,hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF6	connexin 45				ENSP00000333193		2-Feb									COSM3402939	2-Feb	.		ENST00000330514	Transcript			cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		ENSG00000182963	g.chr17:42882694G>A	4280			LOW								--	--	1																																		GJC1_uc002ihk.2_Silent_p.G164G|GJC1_uc002ihl.2_Silent_p.G164G|GJC1_uc010czx.2_Silent_p.G164G|GJC1_uc010czy.1_Silent_p.G25G	1				p.G164G	NM_005497	NP_005488			1	CXG1_HUMAN	GJC1	HGNC	P36383	CXG1_HUMAN			Q5H9P2_HUMAN,K7EQ14_HUMAN,K7ENT9_HUMAN,K7EM78_HUMAN		2	1003	-		Prostate(33;0.0959)	UPI000013C62A	164			Cytoplasmic (Potential).		SNV	GJC1,synonymous_variant,p.=,ENST00000426548,NM_001080383.1,NM_005497.3;GJC1,synonymous_variant,p.=,ENST00000330514,;GJC1,synonymous_variant,p.=,ENST00000587113,;GJC1,synonymous_variant,p.=,ENST00000592524,;GJC1,synonymous_variant,p.=,ENST00000590758,;GJC1,downstream_gene_variant,,ENST00000591424,;GJC1,downstream_gene_variant,,ENST00000587239,;GJC1,upstream_gene_variant,,ENST00000586347,;GJC1,downstream_gene_variant,,ENST00000586267,;	uc002ihj.2	c.492C>T	1003/3295	2	2			c.492C>T						17	SNP	c.(490-492)GGC>GGT	28	28				0	Broad	connexin 45			42882694		0.468	ENSG00000182963	6298	g.chr17:42882694G>A	cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane								-73.673772	KEEP	4	2	-1	158	175	4	2	-1	7.331458	158	175	0.01634	1	0	0	0	0	0	0	1	0	--	--		0	A			GJC1_uc002ihk.2_Silent_p.G164G|GJC1_uc002ihl.2_Silent_p.G164G|GJC1_uc010czx.2_Silent_p.G164G|GJC1_uc010czy.1_Silent_p.G25G	118	GBM-12-0616-TP	p.G164G	G	TCCGTCGTCGGCCATCATGCT	NM_005497	NP_005488	42882694	P36383	CXG1_HUMAN	0			2	1003	-	A	A		Prostate(33;0.0959)	Silent	164			Cytoplasmic (Potential).			
GJC1	0	broad.mit.edu	GRCh37	17	42882259	42882259	+	synonymous_variant	Silent	SNP	G	G	T	rs138440006		TCGA-27-2524-01	TCGA-27-2524-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330514.4:c.927C>A	p.Ile309=	p.I309=	ENST00000330514		309	atC/atA	0			1			T	I	uc002ihj.2	protein_coding		CCDS11487.1			927/1191										0	c.(925-927)ATC>ATA			hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF6	connexin 45				ENSP00000333193		2-Feb									COSM3402937	2-Feb	.		ENST00000330514	Transcript			cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		ENSG00000182963	g.chr17:42882259G>T	4280			LOW								--	--	1																																		GJC1_uc002ihk.2_Silent_p.I309I|GJC1_uc002ihl.2_Silent_p.I309I|GJC1_uc010czx.2_Silent_p.I309I|GJC1_uc010czy.1_Silent_p.I170I	1				p.I309I	NM_005497	NP_005488			1	CXG1_HUMAN	GJC1	HGNC	P36383	CXG1_HUMAN			Q5H9P2_HUMAN,K7EQ14_HUMAN,K7ENT9_HUMAN,K7EM78_HUMAN		2	1438	-		Prostate(33;0.0959)	UPI000013C62A	309			Cytoplasmic (Potential).		SNV	GJC1,synonymous_variant,p.=,ENST00000426548,NM_001080383.1,NM_005497.3;GJC1,synonymous_variant,p.=,ENST00000330514,;GJC1,synonymous_variant,p.=,ENST00000587113,;GJC1,synonymous_variant,p.=,ENST00000592524,;GJC1,synonymous_variant,p.=,ENST00000590758,;GJC1,synonymous_variant,p.=,ENST00000586347,;GJC1,downstream_gene_variant,,ENST00000591424,;GJC1,downstream_gene_variant,,ENST00000587239,;GJC1,downstream_gene_variant,,ENST00000586267,;	uc002ihj.2	c.927C>A	1438/3295	2	2			c.927C>A						17	SNP	c.(925-927)ATC>ATA	17	17				0	Broad	connexin 45			42882259		0.507	ENSG00000182963	6298	g.chr17:42882259G>T	cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane								349.938161	KEEP	56	65	0.462809917	106	94	56	65	0.462809917	353.589831	106	94	0.380952	1	0	0	0	0	0	0	1	0	--	--		0	T			GJC1_uc002ihk.2_Silent_p.I309I|GJC1_uc002ihl.2_Silent_p.I309I|GJC1_uc010czx.2_Silent_p.I309I|GJC1_uc010czy.1_Silent_p.I170I	202	GBM-27-2524-TP	p.I309I	G	GCTTGTAGGCGATCTTAGCAT	NM_005497	NP_005488	42882259	P36383	CXG1_HUMAN	0			2	1438	-	T	T		Prostate(33;0.0959)	Silent	309			Cytoplasmic (Potential).			
GJC1	0	broad.mit.edu	GRCh37	17	42882434	42882434	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-5214-01	TCGA-28-5214-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330514.4:c.752T>C	p.Leu251Pro	p.L251P	ENST00000330514		251	cTt/cCt	0			1			G	L/P	uc002ihj.2	protein_coding		CCDS11487.1			752/1191										0	c.(751-753)CTT>CCT			Gene3D:2zw3A00,Pfam_domain:PF10582,Prints_domain:PR00206,hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF6,SMART_domains:SM01089	connexin 45				ENSP00000333193		2-Feb									COSM3402938	2-Feb	.		ENST00000330514	Transcript			cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		ENSG00000182963	g.chr17:42882434A>G	4280			MODERATE		2.69	medium	getma.org/?cm=msa&ty=f&p=CXG1_HUMAN&rb=187&re=253&var=L251P	getma.org/pdb.php?prot=CXG1_HUMAN&from=187&to=253&var=L251P	getma.org/?cm=var&var=hg19,17,42882434,A,G&fts=all	L251P	--	--	1																																		GJC1_uc002ihk.2_Missense_Mutation_p.L251P|GJC1_uc002ihl.2_Missense_Mutation_p.L251P|GJC1_uc010czx.2_Missense_Mutation_p.L251P|GJC1_uc010czy.1_Missense_Mutation_p.L112P	1			probably_damaging(0.934)	p.L251P	NM_005497	NP_005488		deleterious(0.01)	1	CXG1_HUMAN	GJC1	HGNC	P36383	CXG1_HUMAN			Q5H9P2_HUMAN,K7EQ14_HUMAN,K7ENT9_HUMAN,K7EM78_HUMAN		2	1263	-		Prostate(33;0.0959)	UPI000013C62A	251			Cytoplasmic (Potential).		SNV	GJC1,missense_variant,p.Leu251Pro,ENST00000426548,NM_001080383.1,NM_005497.3;GJC1,missense_variant,p.Leu251Pro,ENST00000330514,;GJC1,missense_variant,p.Leu115Pro,ENST00000587113,;GJC1,missense_variant,p.Leu251Pro,ENST00000592524,;GJC1,missense_variant,p.Leu251Pro,ENST00000590758,;GJC1,downstream_gene_variant,,ENST00000591424,;GJC1,downstream_gene_variant,,ENST00000587239,;GJC1,upstream_gene_variant,,ENST00000586347,;GJC1,downstream_gene_variant,,ENST00000586267,;	uc002ihj.2	c.752T>C	1263/3295	4	4			c.752T>C						17	SNP	c.(751-753)CTT>CCT	30	30				0	Broad	connexin 45			42882434		0.413	ENSG00000182963	6298	g.chr17:42882434A>G	cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane								307.601712	KEEP	60	50	-1	156	199	60	50	-1	333.359573	156	199	0.239808	1	0	0	0	0	1	0	0	0	--	--		0	G			GJC1_uc002ihk.2_Missense_Mutation_p.L251P|GJC1_uc002ihl.2_Missense_Mutation_p.L251P|GJC1_uc010czx.2_Missense_Mutation_p.L251P|GJC1_uc010czy.1_Missense_Mutation_p.L112P	221	GBM-28-5214-TP	p.L251P	A	CCCTAAATGAAGCATCTCCCA	NM_005497	NP_005488	42882434	P36383	CXG1_HUMAN	0			2	1263	-	G	G		Prostate(33;0.0959)	Missense_Mutation	251			Cytoplasmic (Potential).			
GJC2	57165	broad.mit.edu	GRCh37	1	228345795	228345795	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2558-01	TCGA-06-2558-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366714.2:c.336C>T	p.Arg112=	p.R112=	ENST00000366714	NM_020435.3	112	cgC/cgT	0			1			T	R	uc001hsk.2	protein_coding	YES	CCDS1569.1			336/1320										0	c.(334-336)CGC>CGT			Gene3D:2zw3A00,hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF52,Low_complexity_(Seg):seg	gap junction protein, gamma 2, 47kDa				ENSP00000355675		2-Feb									COSM3400377	2-Feb	.		ENST00000366714	Transcript	1		cell death	connexon complex|integral to membrane		ENSG00000198835	g.chr1:228345795C>T	17494			LOW								--	--	1																																			1	1			p.R112R	NM_020435	NP_065168			1	CXG2_HUMAN	GJC2	HGNC	Q5T442	CXG2_HUMAN					2	511	+		Prostate(94;0.0405)	UPI000034ECE8	112			Cytoplasmic (Potential).		SNV	GJC2,synonymous_variant,p.=,ENST00000366714,NM_020435.3;	uc001hsk.2	c.336C>T	511/2243	2	2			c.336C>T						1	SNP	c.(334-336)CGC>CGT	48	48				0	Broad	gap junction protein, gamma 2, 47kDa			228345795		0.537	ENSG00000198835	6299	g.chr1:228345795C>T	cell death	connexon complex|integral to membrane								15.977199	KEEP	3	2	-1	7	0	3	2	-1	15.977199	7	0	0.5	1	0	0	0	0	0	0	1	0	--	--		0	T				82	GBM-06-2558-TP	p.R112R	C	Agcggcgccgcgccctccgcc	NM_020435	NP_065168	228345795	Q5T442	CXG2_HUMAN	0			2	511	+	T	T		Prostate(94;0.0405)	Silent	112			Cytoplasmic (Potential).			
GJC3	0	broad.mit.edu	GRCh37	7	99521178	99521178	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-28-5204-01	TCGA-28-5204-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312891.2:c.830G>C	p.Arg277Thr	p.R277T	ENST00000312891	NM_181538.2	277	aGa/aCa	0			1			G	R/T	uc011kjd.1	protein_coding	YES	CCDS34697.1			830/840									ovary(1)	1	c.(829-831)AGA>ACA			hmmpanther:PTHR11984:SF40,hmmpanther:PTHR11984	gap junction protein, gamma 3, 30.2kDa				ENSP00000325775		2-Feb	8.24E-06					1.50E-05			rs201992631,COSM3412572	2-Feb	.		ENST00000312891	Transcript				connexon complex|integral to membrane		ENSG00000176402	g.chr7:99521178C>G	17495			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CXG3_HUMAN&rb=214&re=279&var=R277T	NA	getma.org/?cm=var&var=hg19,7,99521178,C,G&fts=all	R277T	--	--	1																																			0,1	1		benign(0)	p.R277T	NM_181538	NP_853516		tolerated_low_confidence(0.6)	0,1	CXG3_HUMAN	GJC3	HGNC	Q8NFK1	CXG3_HUMAN					2	830	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		UPI0000071F87	277			Cytoplasmic (Potential).		SNV	GJC3,missense_variant,p.Arg277Thr,ENST00000312891,NM_181538.2;TRIM4,upstream_gene_variant,,ENST00000355947,NM_033017.3;TRIM4,upstream_gene_variant,,ENST00000349062,NM_033091.2;TRIM4,upstream_gene_variant,,ENST00000354241,;TRIM4,upstream_gene_variant,,ENST00000447480,;	uc011kjd.1	c.830G>C	830/1116	3	3			c.830G>C						7	SNP	c.(829-831)AGA>ACA	56	56			ovary(1)	1	Broad	gap junction protein, gamma 3, 30.2kDa			99521178		0	ENSG00000176402	6300	g.chr7:99521178C>G		connexon complex|integral to membrane								178.5725	KEEP	31	33	-1	90	103	31	33	-1	189.629037	90	103	0.262673	1	0	0	0	0	1	0	0	0	--	--		0	G				215	GBM-28-5204-TP	p.R277T	C	tcaggcatctctgggtccaac	NM_181538	NP_853516	99521178	Q8NFK1	CXG3_HUMAN	0			2	830	-	G	G	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		Missense_Mutation	277			Cytoplasmic (Potential).			
GJD2	57369	broad.mit.edu	GRCh37	15	35044812	35044812	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01	TCGA-06-2565-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290374.4:c.833G>A	p.Arg278His	p.R278H	ENST00000290374	NM_020660.2	278	cGc/cAc	0	T:0		1			T	R/H	uc001zis.1	protein_coding	YES	CCDS10040.1			833/966										0	c.(832-834)CGC>CAC			hmmpanther:PTHR11984:SF32,hmmpanther:PTHR11984,Gene3D:2zw3A00	gap junction protein, delta 2, 36kDa			T:0.0001	ENSP00000290374		2-Feb	4.12E-05	0.000192				4.50E-05			rs376923298,COSM1253265	2-Feb	.		ENST00000290374	Transcript			synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	ENSG00000159248	g.chr15:35044812C>T	19154			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=CXD2_HUMAN&rb=276&re=321&var=R278H	NA	getma.org/?cm=var&var=hg19,15,35044812,C,T&fts=all	R278H	--	--	1																																		uc001zit.1_5'Flank	0,1	1		benign(0.023)	p.R278H	NM_020660	NP_065711		tolerated(0.12)	0,1	CXD2_HUMAN	GJD2	HGNC	Q9UKL4	CXD2_HUMAN		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)			2	833	-		all_lung(180;9.67e-07)	UPI00001287E3	278			Cytoplasmic (Potential).		SNV	GJD2,missense_variant,p.Arg278His,ENST00000290374,NM_020660.2;RP11-814P5.1,upstream_gene_variant,,ENST00000503496,;RP11-814P5.1,upstream_gene_variant,,ENST00000558707,;	uc001zis.1	c.833G>A	1310/2889	1	1			c.833G>A						15	SNP	c.(832-834)CGC>CAC	12	12				0	Broad	gap junction protein, delta 2, 36kDa			35044812		0.512	ENSG00000159248	6301	g.chr15:35044812C>T	synaptic transmission	connexon complex|integral to membrane	gap junction channel activity							-41.011435	KEEP	1	4	-1	110	102	1	4	-1	6.824542	110	102	0.02139	1	0	0	0	0	1	0	0	0	--	--		0	T			uc001zit.1_5'Flank	88	GBM-06-2565-TP	p.R278H	C	CTTGATCTTGCGCCATCCCAG	NM_020660	NP_065711	35044812	Q9UKL4	CXD2_HUMAN	0		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)	2	833	-	T	T		all_lung(180;9.67e-07)	Missense_Mutation	278			Cytoplasmic (Potential).			
GJD2	57369		GRCh37	15	35045056	35045056	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000290374.4:c.589C>T	p.Arg197Cys	p.R197C	ENST00000290374	NM_020660.2	197	Cgc/Tgc	0																																																																																																																																																																																																																																												
GK2	2712		GRCh37	4	80328891	80328891	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000358842.3:c.464G>T	p.Arg155Leu	p.R155L	ENST00000358842	NM_033214.2	155	cGt/cTt	0																																																																																																																																																																																																																																												
GKN1	56287	broad.mit.edu	GRCh37	2	69207121	69207121	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0644-01	TCGA-06-0644-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377938.2:c.434T>A	p.Leu145Gln	p.L145Q	ENST00000377938	NM_019617.3	145	cTg/cAg	0			1			A	L/Q	uc002sfc.2	protein_coding	YES	CCDS1891.2			434/600									breast(1)	1	c.(433-435)CTG>CAG			PROSITE_profiles:PS50869,hmmpanther:PTHR16483,hmmpanther:PTHR16483:SF1,Pfam_domain:PF04089,SMART_domains:SM01039	18 kDa antrum mucosa protein precursor				ENSP00000367172		6-May									COSM2151208	6-May	.		ENST00000377938	Transcript			digestion|positive regulation of cell division	extracellular region		ENSG00000169605	g.chr2:69207121T>A	23217			MODERATE		2.425	medium	getma.org/?cm=msa&ty=f&p=GKN1_HUMAN&rb=68&re=164&var=L145Q	NA	getma.org/?cm=var&var=hg19,2,69207121,T,A&fts=all	L145Q	--	--	1																																			1	1		probably_damaging(0.993)	p.L145Q	NM_019617	NP_062563		tolerated(0.06)	1	GKN1_HUMAN	GKN1	HGNC	Q9NS71	GKN1_HUMAN			Q53YU7_HUMAN		5	497	+			UPI0000126BA7	145			BRICHOS.		SNV	GKN1,missense_variant,p.Leu145Gln,ENST00000377938,NM_019617.3;GKN1,downstream_gene_variant,,ENST00000478888,;	uc002sfc.2	c.434T>A	497/814	1	1			c.434T>A						2	SNP	c.(433-435)CTG>CAG	55	55			breast(1)	1	Broad	18 kDa antrum mucosa protein precursor			69207121		0.502	ENSG00000169605	6307	g.chr2:69207121T>A	digestion|positive regulation of cell division	extracellular region								148.4958	KEEP	26	26	-1	56	63	26	26	-1	153.22791	56	63	0.316456	1	0	0	0	0	1	0	0	0	--	--		0	A				58	GBM-06-0644-TP	p.L145Q	T	GTCGATGACCTGAGCAAGTTC	NM_019617	NP_062563	69207121	Q9NS71	GKN1_HUMAN	0			5	497	+	A	A			Missense_Mutation	145			BRICHOS.			
GLB1L	0	broad.mit.edu	GRCh37	2	220108249	220108249	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-41-5651-01	TCGA-41-5651-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295759.7:c.47T>A	p.Leu16His	p.L16H	ENST00000295759	NM_001286423.1	16	cTc/cAc	0			1			T	L/H	uc002vkm.2	protein_coding	YES	CCDS2437.1			47/1965										0	c.(46-48)CTC>CAC			PIRSF_domain:PIRSF006336,hmmpanther:PTHR23421,hmmpanther:PTHR23421:SF50,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	galactosidase, beta 1-like precursor				ENSP00000295759		17-Feb									COSM3407590	17-Feb	.		ENST00000295759	Transcript			carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	ENSG00000163521	g.chr2:220108249A>T	28129			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=GLB1L_HUMAN&rb=1&re=37&var=L16H	NA	getma.org/?cm=var&var=hg19,2,220108249,A,T&fts=all	L16H	--	--	1																																		GLB1L_uc010zkx.1_Missense_Mutation_p.L16H|GLB1L_uc002vkn.2_Missense_Mutation_p.L16H|STK16_uc002vko.2_5'Flank|STK16_uc002vks.2_5'Flank|STK16_uc010zky.1_5'Flank|STK16_uc010fwf.2_5'Flank|STK16_uc002vkp.2_5'Flank|STK16_uc002vkr.2_5'Flank|STK16_uc002vkq.2_5'Flank	1	1		possibly_damaging(0.869)	p.L16H	NM_024506	NP_078782		tolerated(0.24)	1	GLB1L_HUMAN	GLB1L	HGNC	Q6UWU2	GLB1L_HUMAN		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	C9JE41_HUMAN,C9J1Y9_HUMAN		2	286	-		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	UPI000003ED32	16					SNV	GLB1L,missense_variant,p.Leu16His,ENST00000295759,NM_001286423.1;GLB1L,missense_variant,p.Leu16His,ENST00000392089,NM_024506.3;GLB1L,missense_variant,p.Leu16His,ENST00000356283,NM_001286427.1;GLB1L,missense_variant,p.Leu16His,ENST00000409640,NM_001286427.1;GLB1L,missense_variant,p.Leu16His,ENST00000428427,;GLB1L,missense_variant,p.Leu16His,ENST00000424620,;STK16,upstream_gene_variant,,ENST00000409638,NM_001008910.2;STK16,upstream_gene_variant,,ENST00000396738,;STK16,upstream_gene_variant,,ENST00000409260,;STK16,upstream_gene_variant,,ENST00000409743,;STK16,upstream_gene_variant,,ENST00000409516,;GLB1L,downstream_gene_variant,,ENST00000432839,;GLB1L,upstream_gene_variant,,ENST00000440853,;GLB1L,upstream_gene_variant,,ENST00000497855,;STK16,upstream_gene_variant,,ENST00000486813,;GLB1L,missense_variant,p.Leu16His,ENST00000447002,;GLB1L,non_coding_transcript_exon_variant,,ENST00000467548,;STK16,upstream_gene_variant,,ENST00000496443,;STK16,upstream_gene_variant,,ENST00000478018,;STK16,upstream_gene_variant,,ENST00000475696,;STK16,upstream_gene_variant,,ENST00000496800,;STK16,upstream_gene_variant,,ENST00000475342,;STK16,upstream_gene_variant,,ENST00000491697,;GLB1L,upstream_gene_variant,,ENST00000459951,;STK16,upstream_gene_variant,,ENST00000461417,;GLB1L,upstream_gene_variant,,ENST00000471516,;	uc002vkm.2	c.47T>A	361/2745	2	2			c.47T>A						2	SNP	c.(46-48)CTC>CAC	44	44				0	Broad	galactosidase, beta 1-like precursor			220108249		0.612	ENSG00000163521	6311	g.chr2:220108249A>T	carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds							87.235004	KEEP	16	16	-1	21	30	16	16	-1	87.813673	21	30	0.405405	1	0	0	0	0	1	0	0	0	--	--		0	T			GLB1L_uc010zkx.1_Missense_Mutation_p.L16H|GLB1L_uc002vkn.2_Missense_Mutation_p.L16H|STK16_uc002vko.2_5'Flank|STK16_uc002vks.2_5'Flank|STK16_uc010zky.1_5'Flank|STK16_uc010fwf.2_5'Flank|STK16_uc002vkp.2_5'Flank|STK16_uc002vkr.2_5'Flank|STK16_uc002vkq.2_5'Flank	258	GBM-41-5651-TP	p.L16H	A	CGTCAGGCTGAGCGGCAGCAG	NM_024506	NP_078782	220108249	Q6UWU2	GLB1L_HUMAN	0		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	286	-	T	T		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	Missense_Mutation	16						
GLB1L3	112937	broad.mit.edu	GRCh37	11	134182345	134182345	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5413-01	TCGA-06-5413-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000431683.2:c.1390G>A	p.Gly464Arg	p.G464R	ENST00000431683	NM_001080407.2	464	Gga/Aga	0	A:0.0026	A:0.0023	1	A:0		A	G/R	uc009zdf.2	protein_coding	YES	CCDS44780.1			1390/1962									pancreas(1)	1	c.(1390-1392)GGA>AGA			PIRSF_domain:PIRSF006336,hmmpanther:PTHR23421,hmmpanther:PTHR23421:SF59	galactosidase, beta 1 like 3		A:0	A:0	ENSP00000396615	A:0	14/20	0.000306	0.00328	0.000346			1.51E-05			rs200296164,COSM3397580,COSM3397579	14/20	common_variant		ENST00000431683	Transcript		A:0.0006	carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	ENSG00000166105	g.chr11:134182345G>A	25147			MODERATE		2.715	medium	getma.org/?cm=msa&ty=f&p=GLBL3_HUMAN&rb=393&re=592&var=G464R	getma.org/pdb.php?prot=GLBL3_HUMAN&from=393&to=592&var=G464R	getma.org/?cm=var&var=hg19,11,134182345,G,A&fts=all	G464R	--	--	1																																		GLB1L3_uc001qho.3_RNA	0,1,1	1		benign(0.131)	p.G464R	NM_001080407	NP_001073876	A:0	deleterious(0.01)	0,1,1	GLBL3_HUMAN	GLB1L3	HGNC	Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)			14	1750	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	UPI0001633637	464					SNV	GLB1L3,missense_variant,p.Gly464Arg,ENST00000431683,NM_001080407.2;GLB1L3,missense_variant,p.Gly149Arg,ENST00000455971,;GLB1L3,non_coding_transcript_exon_variant,,ENST00000467068,;GLB1L3,non_coding_transcript_exon_variant,,ENST00000486034,;GLB1L3,non_coding_transcript_exon_variant,,ENST00000498012,;GLB1L3,non_coding_transcript_exon_variant,,ENST00000410100,;AP000859.4,downstream_gene_variant,,ENST00000525536,;	uc009zdf.2	c.1390G>A	1390/2583	1	1			c.1390G>A						11	SNP	c.(1390-1392)GGA>AGA	58	58			pancreas(1)	1	Broad	galactosidase, beta 1 like 3			134182345		0.607	ENSG00000166105	6313	g.chr11:134182345G>A	carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds							43.278627	KEEP	10	6	-1	23	26	10	6	-1	46.225717	23	26	0.266667	1	0	0	0	0	1	0	0	0	--	--		0	A			GLB1L3_uc001qho.3_RNA	96	GBM-06-5413-TP	p.G464R	G	CATCTGCTCCGGAGGCCGCCT	NM_001080407	NP_001073876	134182345	Q8NCI6	GLBL3_HUMAN	0		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	14	1750	+	A	A	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	Missense_Mutation	464						
GLDC	2731		GRCh37	9	6592871	6592871	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000321612.6:c.1381C>T	p.Arg461Trp	p.R461W	ENST00000321612	NM_000170.2	461	Cgg/Tgg	0																																																																																																																																																																																																																																												
GLI1	2735	broad.mit.edu	GRCh37	12	57863263	57863263	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0879-01	TCGA-06-0879-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000228682.2:c.1358C>T	p.Ser453Phe	p.S453F	ENST00000228682	NM_005269.2	453	tCc/tTc	0			1			T	S/F	uc001snx.2	protein_coding	YES	CCDS8940.1			1358/3321									skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15	c.(1357-1359)TCC>TTC			hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF2	GLI family zinc finger 1 isoform 1				ENSP00000228682		12-Nov									COSM2152313	12-Nov	.		ENST00000228682	Transcript			epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	ENSG00000111087	g.chr12:57863263C>T	4317			MODERATE		2.19	medium	getma.org/?cm=msa&ty=f&p=GLI1_HUMAN&rb=399&re=851&var=S453F	NA	getma.org/?cm=var&var=hg19,12,57863263,C,T&fts=all	S453F	--	--	1																																		GLI1_uc009zpq.2_Missense_Mutation_p.S325F	1	1		probably_damaging(0.997)	p.S453F	NM_005269	NP_005260		deleterious(0)	1	GLI1_HUMAN	GLI1	HGNC	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		F5H6H8_HUMAN,E9PQQ1_HUMAN,E9PIB9_HUMAN,B1Q2M2_HUMAN		11	1436	+			UPI000012B607	453					SNV	GLI1,missense_variant,p.Ser453Phe,ENST00000228682,NM_005269.2;GLI1,missense_variant,p.Ser412Phe,ENST00000546141,NM_001167609.1;GLI1,missense_variant,p.Ser325Phe,ENST00000543426,NM_001160045.1;GLI1,missense_variant,p.Ser412Phe,ENST00000528467,;ARHGAP9,downstream_gene_variant,,ENST00000393797,;ARHGAP9,downstream_gene_variant,,ENST00000550288,;ARHGAP9,downstream_gene_variant,,ENST00000356411,;ARHGAP9,downstream_gene_variant,,ENST00000393791,NM_032496.2;ARHGAP9,downstream_gene_variant,,ENST00000424809,NM_001080157.1;ARHGAP9,downstream_gene_variant,,ENST00000430041,NM_001080156.1;GLI1,downstream_gene_variant,,ENST00000532291,;ARHGAP9,downstream_gene_variant,,ENST00000550399,;ARHGAP9,downstream_gene_variant,,ENST00000550130,;GLI1,downstream_gene_variant,,ENST00000528432,;ARHGAP9,downstream_gene_variant,,ENST00000546200,;ARHGAP9,downstream_gene_variant,,ENST00000552953,;ARHGAP9,downstream_gene_variant,,ENST00000550440,;GLI1,downstream_gene_variant,,ENST00000527742,;ARHGAP9,downstream_gene_variant,,ENST00000546704,;GLI1,downstream_gene_variant,,ENST00000530789,;	uc001snx.2	c.1358C>T	1449/3613	1	1			c.1358C>T						12	SNP	c.(1357-1359)TCC>TTC	6	6			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15	Broad	GLI family zinc finger 1 isoform 1			57863263		0.602	ENSG00000111087	6320	g.chr12:57863263C>T	epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	Pancreas(157;841 1936 10503 41495 50368)		277	Pancreas(157;841 1936 10503 41495 50368)		277	101.064274	KEEP	15	24	-1	42	49	15	24	-1	103.239563	42	49	0.346154	1	0	0	0	0	1	0	0	0	--	--		0	T			GLI1_uc009zpq.2_Missense_Mutation_p.S325F	75	GBM-06-0879-TP	p.S453F	C	AGTGACCACTCCCCGGCAGGG	NM_005269	NP_005260	57863263	P08151	GLI1_HUMAN	0	GBM - Glioblastoma multiforme(3;3.99e-32)		11	1436	+	T	T			Missense_Mutation	453						
GLI1	0	broad.mit.edu	GRCh37	12	57861990	57861990	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-14-1450-01	TCGA-14-1450-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000228682.2:c.1291G>C	p.Val431Leu	p.V431L	ENST00000228682	NM_005269.2	431	Gtg/Ctg	0			1			C	V/L	uc001snx.2	protein_coding	YES	CCDS8940.1			1291/3321									skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15	c.(1291-1293)GTG>CTG			hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF2	GLI family zinc finger 1 isoform 1				ENSP00000228682		12-Oct									COSM3398927	12-Oct	.		ENST00000228682	Transcript			epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	ENSG00000111087	g.chr12:57861990G>C	4317			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=GLI1_HUMAN&rb=399&re=851&var=V431L	NA	getma.org/?cm=var&var=hg19,12,57861990,G,C&fts=all	V431L	--	--	1																																		GLI1_uc009zpq.2_Missense_Mutation_p.V303L	1	1		probably_damaging(0.989)	p.V431L	NM_005269	NP_005260		tolerated(0.09)	1	GLI1_HUMAN	GLI1	HGNC	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		F5H6H8_HUMAN,E9PQQ1_HUMAN,E9PIB9_HUMAN,B1Q2M2_HUMAN		10	1369	+			UPI000012B607	431					SNV	GLI1,missense_variant,p.Val431Leu,ENST00000228682,NM_005269.2;GLI1,missense_variant,p.Val390Leu,ENST00000546141,NM_001167609.1;GLI1,missense_variant,p.Val303Leu,ENST00000543426,NM_001160045.1;GLI1,missense_variant,p.Val390Leu,ENST00000528467,;ARHGAP9,downstream_gene_variant,,ENST00000393797,;ARHGAP9,downstream_gene_variant,,ENST00000550288,;ARHGAP9,downstream_gene_variant,,ENST00000356411,;ARHGAP9,downstream_gene_variant,,ENST00000393791,NM_032496.2;ARHGAP9,downstream_gene_variant,,ENST00000424809,NM_001080157.1;ARHGAP9,downstream_gene_variant,,ENST00000430041,NM_001080156.1;GLI1,downstream_gene_variant,,ENST00000532291,;ARHGAP9,downstream_gene_variant,,ENST00000550399,;ARHGAP9,downstream_gene_variant,,ENST00000550130,;GLI1,downstream_gene_variant,,ENST00000528432,;ARHGAP9,downstream_gene_variant,,ENST00000546200,;ARHGAP9,downstream_gene_variant,,ENST00000552953,;ARHGAP9,downstream_gene_variant,,ENST00000550440,;GLI1,downstream_gene_variant,,ENST00000527742,;GLI1,downstream_gene_variant,,ENST00000530789,;	uc001snx.2	c.1291G>C	1382/3613	3	3			c.1291G>C						12	SNP	c.(1291-1293)GTG>CTG	57	57			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15	Broad	GLI family zinc finger 1 isoform 1			57861990		0.602	ENSG00000111087	6320	g.chr12:57861990G>C	epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	Pancreas(157;841 1936 10503 41495 50368)		277	Pancreas(157;841 1936 10503 41495 50368)		277	31.606923	KEEP	4	9	-1	17	16	4	9	-1	33.430993	17	16	0.275	1	0	0	0	0	1	0	0	0	--	--		0	C			GLI1_uc009zpq.2_Missense_Mutation_p.V303L	145	GBM-14-1450-TP	p.V431L	G	CAGACTGACTGTGCCAGAGGG	NM_005269	NP_005260	57861990	P08151	GLI1_HUMAN	0	GBM - Glioblastoma multiforme(3;3.99e-32)		10	1369	+	C	C			Missense_Mutation	431						
GLI1	0	broad.mit.edu	GRCh37	12	57864118	57864118	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01	TCGA-76-4928-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000228682.2:c.1595G>A	p.Arg532His	p.R532H	ENST00000228682	NM_005269.2	532	cGc/cAc	0	A:0.0002	A:0	1	A:0		A	R/H	uc001snx.2	protein_coding	YES	CCDS8940.1			1595/3321									skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15	c.(1594-1596)CGC>CAC			hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF2	GLI family zinc finger 1 isoform 1		A:0.003	A:0.0001	ENSP00000228682	A:0	12-Dec	0.000231	0.000195		0.0028		1.56E-05		0.000101	rs200306754,COSM3398928	12-Dec	common_variant		ENST00000228682	Transcript		A:0.0006	epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	ENSG00000111087	g.chr12:57864118G>A	4317			MODERATE		1.24	low	getma.org/?cm=msa&ty=f&p=GLI1_HUMAN&rb=399&re=851&var=R532H	NA	getma.org/?cm=var&var=hg19,12,57864118,G,A&fts=all	R532H	--	--	1																																		GLI1_uc009zpq.2_Missense_Mutation_p.R404H	0,1	1		possibly_damaging(0.816)	p.R532H	NM_005269	NP_005260	A:0	tolerated(0.15)	0,1	GLI1_HUMAN	GLI1	HGNC	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		F5H6H8_HUMAN,E9PQQ1_HUMAN,E9PIB9_HUMAN,B1Q2M2_HUMAN		12	1673	+			UPI000012B607	532					SNV	GLI1,missense_variant,p.Arg532His,ENST00000228682,NM_005269.2;GLI1,missense_variant,p.Arg491His,ENST00000546141,NM_001167609.1;GLI1,missense_variant,p.Arg404His,ENST00000543426,NM_001160045.1;GLI1,missense_variant,p.Arg491His,ENST00000528467,;ARHGAP9,downstream_gene_variant,,ENST00000393797,;ARHGAP9,downstream_gene_variant,,ENST00000550288,;ARHGAP9,downstream_gene_variant,,ENST00000356411,;ARHGAP9,downstream_gene_variant,,ENST00000393791,NM_032496.2;ARHGAP9,downstream_gene_variant,,ENST00000424809,NM_001080157.1;ARHGAP9,downstream_gene_variant,,ENST00000430041,NM_001080156.1;GLI1,downstream_gene_variant,,ENST00000532291,;ARHGAP9,downstream_gene_variant,,ENST00000550399,;ARHGAP9,downstream_gene_variant,,ENST00000550130,;ARHGAP9,downstream_gene_variant,,ENST00000546200,;ARHGAP9,downstream_gene_variant,,ENST00000552953,;ARHGAP9,downstream_gene_variant,,ENST00000550440,;GLI1,downstream_gene_variant,,ENST00000527742,;ARHGAP9,downstream_gene_variant,,ENST00000546704,;	uc001snx.2	c.1595G>A	1686/3613	2	2			c.1595G>A						12	SNP	c.(1594-1596)CGC>CAC	28	28			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15	Broad	GLI family zinc finger 1 isoform 1			57864118		0.602	ENSG00000111087	6320	g.chr12:57864118G>A	epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	Pancreas(157;841 1936 10503 41495 50368)		277	Pancreas(157;841 1936 10503 41495 50368)		277	108.38216	KEEP	30	34	-1	120	141	30	34	-1	129.394699	120	141	0.208955	1	0	0	0	0	1	0	0	0	--	--		0	A			GLI1_uc009zpq.2_Missense_Mutation_p.R404H	268	GBM-76-4928-TP	p.R532H	G	GTGTCCCGCCGCGTGGGCCCC	NM_005269	NP_005260	57864118	P08151	GLI1_HUMAN	0	GBM - Glioblastoma multiforme(3;3.99e-32)		12	1673	+	A	A			Missense_Mutation	532						
GLI1	2735		GRCh37	12	57864141	57864141	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000228682.2:c.1618G>A	p.Glu540Lys	p.E540K	ENST00000228682	NM_005269.2	540	Gaa/Aaa	0																																																																																																																																																																																																																																												
GLI2	2736	broad.mit.edu	GRCh37	2	121747197	121747197	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000452319.1:c.3707G>A	p.Gly1236Asp	p.G1236D	ENST00000452319		1236	gGc/gAc	0			1			A	G/D	uc010flp.2	protein_coding		CCDS33283.1			3707/4761									ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	c.(3706-3708)GGC>GAC			hmmpanther:PTHR19818:SF73,hmmpanther:PTHR19818	GLI-Kruppel family member GLI2				ENSP00000354586		13/13									COSM3406825	13/13	.		ENST00000361492	Transcript	1		axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000074047	g.chr2:121747197G>A	4318			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=GLI2_HUMAN&rb=1094&re=1584&var=G1236D	NA	getma.org/?cm=var&var=hg19,2,121747197,G,A&fts=all	G1236D	--	--	1																																		GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Missense_Mutation_p.G908D|GLI2_uc002tmu.3_Missense_Mutation_p.G891D	1			benign(0.036)	p.G1236D	NM_005270	NP_005261		tolerated_low_confidence(0.25)	1	GLI2_HUMAN	GLI2	HGNC	P10070	GLI2_HUMAN			Q6RSW2_HUMAN,Q59FV5_HUMAN,Q1PSW9_HUMAN		13	3737	+	Renal(3;0.0496)	Prostate(154;0.0623)	UPI000053FCB4	1236					SNV	GLI2,missense_variant,p.Gly1236Asp,ENST00000452319,;GLI2,missense_variant,p.Gly1236Asp,ENST00000361492,NM_005270.4;GLI2,intron_variant,,ENST00000314490,;GLI2,downstream_gene_variant,,ENST00000435313,;GLI2,3_prime_UTR_variant,,ENST00000445186,;GLI2,3_prime_UTR_variant,,ENST00000341310,;GLI2,intron_variant,,ENST00000438299,;GLI2,intron_variant,,ENST00000452692,;GLI2,downstream_gene_variant,,ENST00000437950,;	uc010flp.2	c.3707G>A	3737/6768	1	1			c.3707G>A						2	SNP	c.(3706-3708)GGC>GAC	61	61			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Broad	GLI-Kruppel family member GLI2			121747197		0.652	ENSG00000074047	6321	g.chr2:121747197G>A	axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			376			376	18.326978	KEEP	5	7	-1	22	28	5	7	-1	22.109158	22	28	0.208333	1	0	0	0	0	1	0	0	0	--	--		0	A			GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Missense_Mutation_p.G908D|GLI2_uc002tmu.3_Missense_Mutation_p.G891D	46	GBM-06-0209-TP	p.G1236D	G	CAGTGTCCTGGCATGACTACC	NM_005270	NP_005261	121747197	P10070	GLI2_HUMAN	0			13	3737	+	A	A	Renal(3;0.0496)	Prostate(154;0.0623)	Missense_Mutation	1236						
GLI2	0	broad.mit.edu	GRCh37	2	121744096	121744096	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-28-5219-01	TCGA-28-5219-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361492.4:c.2199delG	p.Lys734ArgfsTer63	p.K734Rfs*63	ENST00000361492	NM_005270.4	733	aaG/aa	0			1			-	K/X	uc010flp.2	protein_coding		CCDS33283.1			2199/4761									ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	c.(2197-2199)AAGfs			hmmpanther:PTHR19818:SF73,hmmpanther:PTHR19818,Low_complexity_(Seg):seg	GLI-Kruppel family member GLI2				ENSP00000354586		13-Dec										13-Dec	.		ENST00000361492	Transcript	1		axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000074047	g.chr2:121744096delG	4318			HIGH								--	--	1																																		GLI2_uc002tmq.1_Frame_Shift_Del_p.K405fs|GLI2_uc002tmr.1_Frame_Shift_Del_p.K388fs|GLI2_uc002tmt.3_Frame_Shift_Del_p.K405fs|GLI2_uc002tmu.3_Frame_Shift_Del_p.K388fs|GLI2_uc002tmw.1_Frame_Shift_Del_p.K716fs					p.K733fs	NM_005270	NP_005261				GLI2_HUMAN	GLI2	HGNC	P10070	GLI2_HUMAN			Q6RSW2_HUMAN,Q59FV5_HUMAN,Q1PSW9_HUMAN		12	2229	+	Renal(3;0.0496)	Prostate(154;0.0623)	UPI000053FCB4	733					deletion	GLI2,frameshift_variant,p.Lys734ArgfsTer63,ENST00000452319,;GLI2,frameshift_variant,p.Lys734ArgfsTer63,ENST00000361492,NM_005270.4;GLI2,frameshift_variant,p.Lys406ArgfsTer63,ENST00000314490,;GLI2,downstream_gene_variant,,ENST00000435313,;GLI2,3_prime_UTR_variant,,ENST00000445186,;GLI2,3_prime_UTR_variant,,ENST00000341310,;GLI2,3_prime_UTR_variant,,ENST00000438299,;GLI2,3_prime_UTR_variant,,ENST00000452692,;GLI2,3_prime_UTR_variant,,ENST00000437950,;	uc010flp.2	c.2199delG	2229/6768	5	5			c.2199delG						2	DEL	c.(2197-2199)AAGfs	35	35			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Broad	GLI-Kruppel family member GLI2			121744096		0.647	ENSG00000074047	6321	g.chr2:121744096delG	axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			376			376														0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			GLI2_uc002tmq.1_Frame_Shift_Del_p.K405fs|GLI2_uc002tmr.1_Frame_Shift_Del_p.K388fs|GLI2_uc002tmt.3_Frame_Shift_Del_p.K405fs|GLI2_uc002tmu.3_Frame_Shift_Del_p.K388fs|GLI2_uc002tmw.1_Frame_Shift_Del_p.K716fs	225	GBM-28-5219-TP	p.K733fs	G	AGCAGCTCAAGAAGGAGAAGC	NM_005270	NP_005261	121744096	P10070	GLI2_HUMAN	0			12	2229	+	-	-	Renal(3;0.0496)	Prostate(154;0.0623)	Frame_Shift_Del	733						
GLI2	0	broad.mit.edu	GRCh37	2	121726342	121726342	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4934-01	TCGA-76-4934-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361492.4:c.696G>A	p.Ala232=	p.A232=	ENST00000361492	NM_005270.4	232	gcG/gcA	0			1			A	A	uc010flp.2	protein_coding		CCDS33283.1			696/4761									ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	c.(694-696)GCG>GCA			hmmpanther:PTHR19818:SF73,hmmpanther:PTHR19818	GLI-Kruppel family member GLI2				ENSP00000354586		13-May									COSM3406824	13-May	.		ENST00000361492	Transcript	1		axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000074047	g.chr2:121726342G>A	4318			LOW								--	--	1																																		GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Missense_Mutation_p.A103T|GLI2_uc010flo.1_Silent_p.A107A|GLI2_uc002tmw.1_Silent_p.A232A	1				p.A232A	NM_005270	NP_005261			1	GLI2_HUMAN	GLI2	HGNC	P10070	GLI2_HUMAN			Q6RSW2_HUMAN,Q59FV5_HUMAN,Q1PSW9_HUMAN		5	726	+	Renal(3;0.0496)	Prostate(154;0.0623)	UPI000053FCB4	232					SNV	GLI2,missense_variant,p.Ala95Thr,ENST00000360874,;GLI2,synonymous_variant,p.=,ENST00000452319,;GLI2,synonymous_variant,p.=,ENST00000361492,NM_005270.4;GLI2,5_prime_UTR_variant,,ENST00000314490,;GLI2,non_coding_transcript_exon_variant,,ENST00000435313,;GLI2,3_prime_UTR_variant,,ENST00000433812,;GLI2,intron_variant,,ENST00000445186,;GLI2,intron_variant,,ENST00000341310,;GLI2,intron_variant,,ENST00000438299,;GLI2,intron_variant,,ENST00000452692,;GLI2,intron_variant,,ENST00000437950,;	uc010flp.2	c.696G>A	726/6768	2	2			c.696G>A						2	SNP	c.(694-696)GCG>GCA	24	24			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Broad	GLI-Kruppel family member GLI2			121726342		0.632	ENSG00000074047	6321	g.chr2:121726342G>A	axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			376			376	301.400523	KEEP	59	53	-1	64	47	59	53	-1	301.516766	64	47	0.526042	1	0	0	0	0	0	0	1	0	--	--		0	A			GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Missense_Mutation_p.A103T|GLI2_uc010flo.1_Silent_p.A107A|GLI2_uc002tmw.1_Silent_p.A232A	272	GBM-76-4934-TP	p.A232A	G	GCAAGCGGGCGCTGTCCATCT	NM_005270	NP_005261	121726342	P10070	GLI2_HUMAN	0			5	726	+	A	A	Renal(3;0.0496)	Prostate(154;0.0623)	Silent	232						
GLI2	2736		GRCh37	2	121748070	121748070	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000452319.1:c.4580G>T	p.Gly1527Val	p.G1527V	ENST00000452319		1527	gGt/gTt	0																																																																																																																																																																																																																																												
GLI3	0	broad.mit.edu	GRCh37	7	42004153	42004153	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-2527-01	TCGA-27-2527-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395925.3:c.4518C>T	p.Phe1506=	p.F1506=	ENST00000395925	NM_000168.5	1506	ttC/ttT	0	A:0		1			A	F	uc011kbh.1	protein_coding	YES	CCDS5465.1			4518/4743									lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19	c.(4516-4518)TTC>TTT			hmmpanther:PTHR19818:SF5,hmmpanther:PTHR19818	GLI-Kruppel family member GLI3			A:0.0001	ENSP00000379258		15/15	1.65E-05			0.000116		1.50E-05			rs377186629,COSM1089627	15/15	.	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	ENST00000395925	Transcript	1		negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000106571	g.chr7:42004153G>A	4319			LOW								--	--	1																																		GLI3_uc011kbg.1_Silent_p.F1447F	0,1	1			p.F1506F	NM_000168	NP_000159			0,1	GLI3_HUMAN	GLI3	HGNC	P10071	GLI3_HUMAN			C9J9N4_HUMAN		15	4609	-			UPI000020EE4C	1506			Asp/Glu-rich (acidic).		SNV	GLI3,synonymous_variant,p.=,ENST00000395925,NM_000168.5;GLI3,non_coding_transcript_exon_variant,,ENST00000479210,;	uc011kbh.1	c.4518C>T	4603/8208	1	1			c.4518C>T						7	SNP	c.(4516-4518)TTC>TTT	64	64			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19	Broad	GLI-Kruppel family member GLI3			42004153	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	0.552	ENSG00000106571	6322	g.chr7:42004153G>A	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		p.F1506F(HT115-Tumor)|p.F1506F(SNU81-Tumor)	806		p.F1506F(HT115-Tumor)|p.F1506F(SNU81-Tumor)	806	33.519728	KEEP	8	13	-1	46	57	8	13	-1	42.735182	46	57	0.178947	1	0	0	0	0	0	0	1	0	--	--		0	A			GLI3_uc011kbg.1_Silent_p.F1447F	204	GBM-27-2527-TP	p.F1506F	G	TGATGGCATCGAAGTCAATCT	NM_000168	NP_000159	42004153	P10071	GLI3_HUMAN	0			15	4609	-	A	A			Silent	1506			Asp/Glu-rich (acidic).			
GLIS1	0	broad.mit.edu	GRCh37	1	53995480	53995480	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01	TCGA-41-2572-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312233.2:c.941G>A	p.Arg314His	p.R314H	ENST00000312233	NM_147193.2	314	cGc/cAc	0			1			T	R/H	uc001cvr.1	protein_coding	YES	CCDS582.1			941/1863									skin(1)	1	c.(940-942)CGC>CAC			Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF75,SMART_domains:SM00355,Superfamily_domains:SSF57667	GLIS family zinc finger 1				ENSP00000309653		10-Apr	1.65E-05					3.02E-05			rs758828860,COSM3400881	10-Apr	.		ENST00000312233	Transcript			negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	ENSG00000174332	g.chr1:53995480C>T	29525			MODERATE		2.825	medium	getma.org/?cm=msa&ty=f&p=GLIS1_HUMAN&rb=276&re=351&var=R314H	getma.org/pdb.php?prot=GLIS1_HUMAN&from=306&to=321&var=R314H	getma.org/?cm=var&var=hg19,1,53995480,C,T&fts=all	R314H	--	--	1																																			0,1	1		probably_damaging(0.991)	p.R314H	NM_147193	NP_671726		deleterious(0)	0,1	GLIS1_HUMAN	GLIS1	HGNC	Q8NBF1	GLIS1_HUMAN					4	1508	-			UPI000013F293	314			C2H2-type 4.		SNV	GLIS1,missense_variant,p.Arg314His,ENST00000312233,NM_147193.2;	uc001cvr.1	c.941G>A	1508/2812	2	2			c.941G>A						1	SNP	c.(940-942)CGC>CAC	47	47			skin(1)	1	Broad	GLIS family zinc finger 1			53995480		0.657	ENSG00000174332	6328	g.chr1:53995480C>T	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding							115.260771	KEEP	27	31	-1	40	59	27	31	-1	117.286633	40	59	0.361345	1	0	0	0	0	1	0	0	0	--	--		0	T				251	GBM-41-2572-TP	p.R314H	C	TAGGTGGGTGCGCTGGTGCTT	NM_147193	NP_671726	53995480	Q8NBF1	GLIS1_HUMAN	0			4	1508	-	T	T			Missense_Mutation	314			C2H2-type 4.			
GLIS1	0	broad.mit.edu	GRCh37	1	54060541	54060541	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-74-6573-01	TCGA-74-6573-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312233.2:c.35G>T	p.Cys12Phe	p.C12F	ENST00000312233	NM_147193.2	12	tGt/tTt	0			1			A	C/F	uc001cvr.1	protein_coding	YES	CCDS582.1			35/1863									skin(1)	1	c.(34-36)TGT>TTT			hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF75	GLIS family zinc finger 1				ENSP00000309653		10-Mar									COSM3400883	10-Mar	.		ENST00000312233	Transcript			negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	ENSG00000174332	g.chr1:54060541C>A	29525			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=GLIS1_HUMAN&rb=1&re=159&var=C12F	NA	getma.org/?cm=var&var=hg19,1,54060541,C,A&fts=all	C12F	--	--	1																																			1	1		possibly_damaging(0.602)	p.C12F	NM_147193	NP_671726		deleterious_low_confidence(0)	1	GLIS1_HUMAN	GLIS1	HGNC	Q8NBF1	GLIS1_HUMAN					3	602	-			UPI000013F293	12					SNV	GLIS1,missense_variant,p.Cys12Phe,ENST00000312233,NM_147193.2;	uc001cvr.1	c.35G>T	602/2812	2	2			c.35G>T						1	SNP	c.(34-36)TGT>TTT	34	34			skin(1)	1	Broad	GLIS family zinc finger 1			54060541		0.657	ENSG00000174332	6328	g.chr1:54060541C>A	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding							20.418747	KEEP	6	4	0.4	10	8	6	4	0.4	20.815894	10	8	0.35	1	0	0	0	0	1	0	0	0	--	--		0	A				260	GBM-74-6573-TP	p.C12F	C	CGGGCCCCGACAGTGGGCAGA	NM_147193	NP_671726	54060541	Q8NBF1	GLIS1_HUMAN	0			3	602	-	A	A			Missense_Mutation	12						
GLIS3	0	broad.mit.edu	GRCh37	9	4117963	4117963	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324333.10:c.1050C>T	p.Ile350=	p.I350=	ENST00000324333	NM_152629.3	350	atC/atT	0			1			A	I	uc003zhw.1	protein_coding		CCDS6451.1			1050/2328									ovary(1)	1	c.(1048-1050)ATC>ATT			Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13894,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR19818:SF71,hmmpanther:PTHR19818,PROSITE_profiles:PS50157	GLIS family zinc finger 3 isoform b				ENSP00000325494		10-Mar	0.000675		0.00709						rs752036990,COSM3413667,COSM3413666	10-Mar	common_variant		ENST00000324333	Transcript	1		negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	ENSG00000107249	g.chr9:4117963G>A	28510			LOW								--	--	1																																		GLIS3_uc003zhx.1_Silent_p.I505I|GLIS3_uc003zic.1_Silent_p.I505I|GLIS3_uc003zie.1_Silent_p.I505I|GLIS3_uc010mhh.1_Silent_p.I380I|GLIS3_uc003zid.1_Silent_p.I283I|GLIS3_uc010mhi.1_Silent_p.I312I|GLIS3_uc003zif.1_Silent_p.I283I|GLIS3_uc003zig.1_Silent_p.I349I|GLIS3_uc003zih.1_Silent_p.I283I|GLIS3_uc003zhy.1_Silent_p.I283I|GLIS3_uc003zhz.1_Silent_p.I283I|GLIS3_uc003zib.1_Silent_p.I349I|GLIS3_uc010mhg.1_Silent_p.I283I	0,1,1				p.I350I	NM_152629	NP_689842			0,1,1	GLIS3_HUMAN	GLIS3	HGNC	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	Q1PHK4_HUMAN,Q1PHJ2_HUMAN,Q1PHI3_HUMAN		3	1244	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	UPI00003675FE	350			C2H2-type 1.		SNV	GLIS3,synonymous_variant,p.=,ENST00000324333,NM_152629.3;GLIS3,synonymous_variant,p.=,ENST00000381971,NM_001042413.1;GLIS3,downstream_gene_variant,,ENST00000477901,;GLIS3,downstream_gene_variant,,ENST00000481827,;GLIS3,downstream_gene_variant,,ENST00000462164,;GLIS3,downstream_gene_variant,,ENST00000478315,;GLIS3,downstream_gene_variant,,ENST00000478844,;GLIS3,downstream_gene_variant,,ENST00000490709,;GLIS3,downstream_gene_variant,,ENST00000473846,;GLIS3,non_coding_transcript_exon_variant,,ENST00000467497,;GLIS3,downstream_gene_variant,,ENST00000491889,;	uc003zhw.1	c.1050C>T	1244/6667	2	2			c.1050C>T						9	SNP	c.(1048-1050)ATC>ATT	17	17			ovary(1)	1	Broad	GLIS family zinc finger 3 isoform b			4117963		0.667	ENSG00000107249	6330	g.chr9:4117963G>A	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding							66.769852	KEEP	17	14	-1	40	30	17	14	-1	69.628251	40	30	0.3	1	0	0	0	0	0	0	1	0	--	--		0	A			GLIS3_uc003zhx.1_Silent_p.I505I|GLIS3_uc003zic.1_Silent_p.I505I|GLIS3_uc003zie.1_Silent_p.I505I|GLIS3_uc010mhh.1_Silent_p.I380I|GLIS3_uc003zid.1_Silent_p.I283I|GLIS3_uc010mhi.1_Silent_p.I312I|GLIS3_uc003zif.1_Silent_p.I283I|GLIS3_uc003zig.1_Silent_p.I349I|GLIS3_uc003zih.1_Silent_p.I283I|GLIS3_uc003zhy.1_Silent_p.I283I|GLIS3_uc003zhz.1_Silent_p.I283I|GLIS3_uc003zib.1_Silent_p.I349I|GLIS3_uc010mhg.1_Silent_p.I283I	125	GBM-12-3649-TP	p.I350I	G	CGCTGCAGTCGATCCAGCGGC	NM_152629	NP_689842	4117963	Q8NEA6	GLIS3_HUMAN	0		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	3	1244	-	A	A		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	Silent	350			C2H2-type 1.			
GLP1R	2740	broad.mit.edu	GRCh37	6	39024212	39024212	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs141990898		TCGA-06-0155-01	TCGA-06-0155-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373256.4:c.118C>T	p.Arg40Ter	p.R40*	ENST00000373256	NM_002062.3	40	Cga/Tga	0	T:0.0005		1			T	R/*	uc003ooj.3	protein_coding	YES	CCDS4839.1			118/1392									lung(3)|breast(1)|pancreas(1)	5	c.(118-120)CGA>TGA			Prints_domain:PR01353,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF232,Superfamily_domains:SSF111418	glucagon-like peptide 1 receptor precursor	Exenatide(DB01276)|Glucagon recombinant(DB00040)		T:0	ENSP00000362353		13-Feb	2.47E-05					4.55E-05			rs141990898,COSM187476	13-Feb	.		ENST00000373256	Transcript			activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled	ENSG00000112164	g.chr6:39024212C>T	4324			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,6,39024212,C,T&fts=all	R40*	--	--	1																																		GLP1R_uc003ooh.2_RNA|GLP1R_uc003ooi.2_RNA	0,1	1			p.R40*	NM_002062	NP_002053			0,1	GLP1R_HUMAN	GLP1R	HGNC	P43220	GLP1R_HUMAN					2	178	+			UPI0000061F20	40			Extracellular (Potential).		SNV	GLP1R,stop_gained,p.Arg40Ter,ENST00000373256,NM_002062.3;	uc003ooj.3	c.118C>T	161/3105	5	2			c.118C>T						6	SNP	c.(118-120)CGA>TGA	26	26			lung(3)|breast(1)|pancreas(1)	5	Broad	glucagon-like peptide 1 receptor precursor		Exenatide(DB01276)|Glucagon recombinant(DB00040)	39024212		0.632	ENSG00000112164	6335	g.chr6:39024212C>T	activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled							50.600745	KEEP	16	8	-1	15	32	16	8	-1	52.672487	15	32	0.306452	1	0	0	0	0	0	1	0	0	--	--		0	T			GLP1R_uc003ooh.2_RNA|GLP1R_uc003ooi.2_RNA	27	GBM-06-0155-TP	p.R40*	C	GCAGAAATGGCGAGAATACCG	NM_002062	NP_002053	39024212	P43220	GLP1R_HUMAN	0			2	178	+	T	T			Nonsense_Mutation	40			Extracellular (Potential).			
GLP1R	0	broad.mit.edu	GRCh37	6	39033981	39033981	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0615-01	TCGA-12-0615-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373256.4:c.411G>A	p.Pro137=	p.P137=	ENST00000373256	NM_002062.3	137	ccG/ccA	0			1			A	P	uc003ooj.3	protein_coding	YES	CCDS4839.1			411/1392									lung(3)|breast(1)|pancreas(1)	5	c.(409-411)CCG>CCA			Prints_domain:PR01355,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF232,Superfamily_domains:SSF111418,Superfamily_domains:SSF81321	glucagon-like peptide 1 receptor precursor	Exenatide(DB01276)|Glucagon recombinant(DB00040)			ENSP00000362353		13-May	3.29E-05	9.79E-05						0.000201	rs766037799,COSM2153506	13-May	.		ENST00000373256	Transcript			activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled	ENSG00000112164	g.chr6:39033981G>A	4324			LOW								--	--	1																																		GLP1R_uc003ooh.2_RNA|GLP1R_uc003ooi.2_RNA	0,1	1			p.P137P	NM_002062	NP_002053			0,1	GLP1R_HUMAN	GLP1R	HGNC	P43220	GLP1R_HUMAN					5	471	+			UPI0000061F20	137	P -> R (in Ref. 4; no nucleotide entry).|SP -> WG (in Ref. 1; AAA03614).		Extracellular (Potential).		SNV	GLP1R,synonymous_variant,p.=,ENST00000373256,NM_002062.3;	uc003ooj.3	c.411G>A	454/3105	2	2			c.411G>A						6	SNP	c.(409-411)CCG>CCA	33	33			lung(3)|breast(1)|pancreas(1)	5	Broad	glucagon-like peptide 1 receptor precursor		Exenatide(DB01276)|Glucagon recombinant(DB00040)	39033981		0.597	ENSG00000112164	6335	g.chr6:39033981G>A	activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled							65.936777	KEEP	11	12	-1	31	13	11	12	-1	67.086136	31	13	0.354839	1	0	0	0	0	0	0	1	0	--	--		0	A			GLP1R_uc003ooh.2_RNA|GLP1R_uc003ooi.2_RNA	117	GBM-12-0615-TP	p.P137P	G	AGAGCTCCCCGGAGGAGCAGC	NM_002062	NP_002053	39033981	P43220	GLP1R_HUMAN	0			5	471	+	A	A			Silent	137	P -> R (in Ref. 4; no nucleotide entry).|SP -> WG (in Ref. 1; AAA03614).		Extracellular (Potential).			
GLP2R	0	broad.mit.edu	GRCh37	17	9792806	9792806	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5211-01	TCGA-28-5211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262441.5:c.1446G>A	p.Ser482=	p.S482=	ENST00000262441	NM_004246.1	482	tcG/tcA	0	A:0	A:0	1	A:0		A	S	uc002gmd.1	protein_coding	YES	CCDS11150.1			1446/1662									lung(2)|ovary(1)	3	c.(1444-1446)TCG>TCA			hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF269	glucagon-like peptide 2 receptor precursor	Glucagon recombinant(DB00040)	A:0	A:0.0001	ENSP00000262441	A:0.001	13/13	0.000115					0.000151		0.000242	rs184873596,COSM3403425	13/13	.		ENST00000262441	Transcript		A:0.0002	G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		ENSG00000065325	g.chr17:9792806G>A	4325			LOW								--	--	1																																			0,1	1			p.S482S	NM_004246	NP_004237	A:0		0,1	GLP2R_HUMAN	GLP2R	HGNC	O95838	GLP2R_HUMAN			I3L151_HUMAN,I3L0P5_HUMAN,E9PC86_HUMAN		13	1446	+			UPI0000050469	482			Cytoplasmic (Potential).		SNV	GLP2R,synonymous_variant,p.=,ENST00000262441,NM_004246.1;GLP2R,synonymous_variant,p.=,ENST00000574745,;	uc002gmd.1	c.1446G>A	1959/4572	1	1			c.1446G>A						17	SNP	c.(1444-1446)TCG>TCA	54	54			lung(2)|ovary(1)	3	Broad	glucagon-like peptide 2 receptor precursor		Glucagon recombinant(DB00040)	9792806		0.597	ENSG00000065325	6336	g.chr17:9792806G>A	G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane								34.542131	KEEP	8	14	-1	31	35	8	14	-1	38.933559	31	35	0.253165	1	0	0	0	0	0	0	1	0	--	--		0	A				219	GBM-28-5211-TP	p.S482S	G	AGAAGCTCTCGGAAGGAGATG	NM_004246	NP_004237	9792806	O95838	GLP2R_HUMAN	0			13	1446	+	A	A			Silent	482			Cytoplasmic (Potential).			
GLP2R	0	broad.mit.edu	GRCh37	17	9737155	9737155	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs147858947	byFrequency	TCGA-32-4210-01	TCGA-32-4210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262441.5:c.221G>A	p.Arg74Gln	p.R74Q	ENST00000262441	NM_004246.1	74	cGg/cAg	0	A:0		1			A	R/Q	uc002gmd.1	protein_coding	YES	CCDS11150.1			221/1662									lung(2)|ovary(1)	3	c.(220-222)CGG>CAG			hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF269,Superfamily_domains:SSF111418	glucagon-like peptide 2 receptor precursor	Glucagon recombinant(DB00040)		A:0.0003	ENSP00000262441		13-Feb	0.000132			0.000116		7.52E-05		0.00062	rs147858947,COSM3403423	13-Feb	common_variant		ENST00000262441	Transcript			G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		ENSG00000065325	g.chr17:9737155G>A	4325			MODERATE		-0.11	neutral	getma.org/?cm=msa&ty=f&p=GLP2R_HUMAN&rb=1&re=92&var=R74Q	NA	getma.org/?cm=var&var=hg19,17,9737155,G,A&fts=all	R74Q	--	--	1																																		GLP2R_uc010cog.1_RNA	0,1	1		benign(0.005)	p.R74Q	NM_004246	NP_004237		tolerated(1)	0,1	GLP2R_HUMAN	GLP2R	HGNC	O95838	GLP2R_HUMAN			I3L151_HUMAN,I3L0P5_HUMAN,E9PC86_HUMAN		2	221	+			UPI0000050469	74			Extracellular (Potential).		SNV	GLP2R,missense_variant,p.Arg74Gln,ENST00000262441,NM_004246.1;GLP2R,5_prime_UTR_variant,,ENST00000574745,;GLP2R,missense_variant,p.Arg74Gln,ENST00000458005,;	uc002gmd.1	c.221G>A	734/4572	2	2			c.221G>A						17	SNP	c.(220-222)CGG>CAG	47	47			lung(2)|ovary(1)	3	Broad	glucagon-like peptide 2 receptor precursor		Glucagon recombinant(DB00040)	9737155		0.413	ENSG00000065325	6336	g.chr17:9737155G>A	G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane								132.164368	KEEP	28	21	-1	34	25	28	21	-1	132.358254	34	25	0.450549	1	0	0	0	0	1	0	0	0	--	--		0	A			GLP2R_uc010cog.1_RNA	245	GBM-32-4210-TP	p.R74Q	G	GAAACGACTCGGAAGTGGGCT	NM_004246	NP_004237	9737155	O95838	GLP2R_HUMAN	0			2	221	+	A	A			Missense_Mutation	74			Extracellular (Potential).			
GLP2R	0	broad.mit.edu	GRCh37	17	9783793	9783793	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-81-5910-01	TCGA-81-5910-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262441.5:c.1244T>G	p.Leu415Arg	p.L415R	ENST00000262441	NM_004246.1	415	cTt/cGt	0			1			G	L/R	uc002gmd.1	protein_coding	YES	CCDS11150.1			1244/1662									lung(2)|ovary(1)	3	c.(1243-1245)CTT>CGT			PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF269,Pfam_domain:PF00002,Superfamily_domains:SSF81321	glucagon-like peptide 2 receptor precursor	Glucagon recombinant(DB00040)			ENSP00000262441		13-Nov									COSM3403424	13-Nov	.		ENST00000262441	Transcript			G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		ENSG00000065325	g.chr17:9783793T>G	4325			MODERATE		1.33	low	getma.org/?cm=msa&ty=f&p=GLP2R_HUMAN&rb=175&re=432&var=L415R	NA	getma.org/?cm=var&var=hg19,17,9783793,T,G&fts=all	L415R	--	--	1																																			1	1		benign(0.029)	p.L415R	NM_004246	NP_004237		tolerated(0.32)	1	GLP2R_HUMAN	GLP2R	HGNC	O95838	GLP2R_HUMAN			I3L151_HUMAN,I3L0P5_HUMAN,E9PC86_HUMAN		11	1244	+			UPI0000050469	415			Extracellular (Potential).		SNV	GLP2R,missense_variant,p.Leu415Arg,ENST00000262441,NM_004246.1;GLP2R,missense_variant,p.Leu235Arg,ENST00000574745,;	uc002gmd.1	c.1244T>G	1757/4572	3	3			c.1244T>G						17	SNP	c.(1243-1245)CTT>CGT	7	7			lung(2)|ovary(1)	3	Broad	glucagon-like peptide 2 receptor precursor		Glucagon recombinant(DB00040)	9783793		0.393	ENSG00000065325	6336	g.chr17:9783793T>G	G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane								-26.518351	KEEP	2	5	-1	59	85	2	5	-1	7.88972	59	85	0.034722	1	0	0	0	0	1	0	0	0	--	--		0	G				289	GBM-81-5910-TP	p.L415R	T	TTTGCAAAACTTATACGACTT	NM_004246	NP_004237	9783793	O95838	GLP2R_HUMAN	0			11	1244	+	G	G			Missense_Mutation	415			Extracellular (Potential).			
GLRA1	0	broad.mit.edu	GRCh37	5	151230995	151230995	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-6391-01	TCGA-06-6391-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000455880.2:c.868A>T	p.Thr290Ser	p.T290S	ENST00000455880		290	Acc/Tcc	0			1			A	T/S	uc003lut.2	protein_coding	YES	CCDS54942.1			868/1374									ovary(1)|central_nervous_system(1)	2	c.(868-870)ACC>TCC			Gene3D:1.20.58.390,Pfam_domain:PF02932,Prints_domain:PR00253,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF213,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860	glycine receptor, alpha 1 isoform 1 precursor	Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)			ENSP00000411593		9-Jul										9-Jul	.		ENST00000455880	Transcript	1		muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	ENSG00000145888	g.chr5:151230995T>A	4326			MODERATE		2.13	medium	getma.org/?cm=msa&ty=f&p=GLRA1_HUMAN&rb=255&re=368&var=T290S	getma.org/pdb.php?prot=GLRA1_HUMAN&from=255&to=368&var=T290S	getma.org/?cm=var&var=hg19,5,151230995,T,A&fts=all	T290S	--	--	1																																		GLRA1_uc003lur.2_Missense_Mutation_p.T290S|GLRA1_uc003lus.2_Missense_Mutation_p.T207S		1		probably_damaging(0.998)	p.T290S	NM_001146040	NP_001139512		tolerated(0.13)		GLRA1_HUMAN	GLRA1	HGNC	P23415	GLRA1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)				7	1155	-		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	UPI0000DA6BF2	290			Helical; (Probable).		SNV	GLRA1,missense_variant,p.Thr290Ser,ENST00000274576,NM_001146040.1,NM_000171.3;GLRA1,missense_variant,p.Thr290Ser,ENST00000455880,;GLRA1,missense_variant,p.Thr207Ser,ENST00000545569,;GLRA1,non_coding_transcript_exon_variant,,ENST00000471351,;GLRA1,3_prime_UTR_variant,,ENST00000462581,;RP11-54C4.2,downstream_gene_variant,,ENST00000603996,;	uc003lut.2	c.868A>T	1155/1707	1	1			c.868A>T						5	SNP	c.(868-870)ACC>TCC	54	54			ovary(1)|central_nervous_system(1)	2	Broad	glycine receptor, alpha 1 isoform 1 precursor		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	151230995		0.547	ENSG00000145888	6337	g.chr5:151230995T>A	muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity							-1.541269	KEEP	1	3	-1	28	30	1	3	-1	9.053661	28	30	0.071429	1	0	0	0	0	1	0	0	0	--	--		0	A			GLRA1_uc003lur.2_Missense_Mutation_p.T290S|GLRA1_uc003lus.2_Missense_Mutation_p.T207S	107	GBM-06-6391-TP	p.T290S	T	GTGGTCATGGTGAGCACAGTG	NM_001146040	NP_001139512	151230995	P23415	GLRA1_HUMAN	0	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		7	1155	-	A	A		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Missense_Mutation	290			Helical; (Probable).			
GLS	0	broad.mit.edu	GRCh37	2	191769831	191769831	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-27-1832-01	TCGA-27-1832-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320717.3:c.917A>T	p.His306Leu	p.H306L	ENST00000320717	NM_014905.4	306	cAt/cTt	0			1			T	H/L	uc002usf.2	protein_coding	YES	CCDS2308.1			917/2010									ovary(1)|skin(1)	2	c.(916-918)CAT>CTT			HAMAP:MF_00313,hmmpanther:PTHR12544,Gene3D:3.40.710.10,TIGRFAM_domain:TIGR03814,Pfam_domain:PF04960,Superfamily_domains:SSF56601	glutaminase precursor	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)			ENSP00000317379		18-Jun									COSM3407421,COSM3407422	18-Jun	.		ENST00000320717	Transcript			cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity	ENSG00000115419	g.chr2:191769831A>T	4331			MODERATE		1.715	low	getma.org/?cm=msa&ty=f&p=GLSK_HUMAN&rb=244&re=530&var=H306L	getma.org/pdb.php?prot=GLSK_HUMAN&from=244&to=530&var=H306L	getma.org/?cm=var&var=hg19,2,191769831,A,T&fts=all	H306L	--	--	1																																		GLS_uc002use.2_Missense_Mutation_p.H306L	1,1	1		possibly_damaging(0.793)	p.H306L	NM_014905	NP_055720		deleterious(0)	1,1	GLSK_HUMAN	GLS	HGNC	O94925	GLSK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		Q53TX0_HUMAN,Q53S89_HUMAN,Q53RX0_HUMAN,C9JIJ6_HUMAN,B7Z509_HUMAN		6	1181	+			UPI000012B7F6	306					SNV	GLS,missense_variant,p.His306Leu,ENST00000320717,NM_014905.4;GLS,missense_variant,p.His306Leu,ENST00000338435,NM_001256310.1;GLS,missense_variant,p.His71Leu,ENST00000417154,;GLS,non_coding_transcript_exon_variant,,ENST00000469774,;	uc002usf.2	c.917A>T	1175/4834	2	2			c.917A>T						2	SNP	c.(916-918)CAT>CTT	45	45			ovary(1)|skin(1)	2	Broad	glutaminase precursor		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	191769831		0.348	ENSG00000115419	6346	g.chr2:191769831A>T	cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity							-11.743169	KEEP	4	2	-1	65	46	4	2	-1	12.086772	65	46	0.053097	1	0	0	0	0	1	0	0	0	--	--		0	T			GLS_uc002use.2_Missense_Mutation_p.H306L	191	GBM-27-1832-TP	p.H306L	A	GAATATGTGCATCGATATGTT	NM_014905	NP_055720	191769831	O94925	GLSK_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		6	1181	+	T	T			Missense_Mutation	306						
GLS	0	broad.mit.edu	GRCh37	2	191765419	191765419	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A			TCGA-32-1970-01	TCGA-32-1970-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320717.3:c.735G>A	p.Lys245=	p.K245=	ENST00000320717	NM_014905.4	245	aaG/aaA	0			1			A	K	uc002usf.2	protein_coding	YES	CCDS2308.1			735/2010									ovary(1)|skin(1)	2	c.(733-735)AAG>AAA			HAMAP:MF_00313,hmmpanther:PTHR12544,Gene3D:3.40.710.10,TIGRFAM_domain:TIGR03814,Pfam_domain:PF04960,Superfamily_domains:SSF56601	glutaminase precursor	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)			ENSP00000317379		18-Apr									COSM3407419,COSM3407420	18-Apr	.		ENST00000320717	Transcript			cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity	ENSG00000115419	g.chr2:191765419G>A	4331			LOW								--	--	1																																		GLS_uc002use.2_Silent_p.K245K	1,1	1			p.K245K	NM_014905	NP_055720			1,1	GLSK_HUMAN	GLS	HGNC	O94925	GLSK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		Q53TX0_HUMAN,Q53S89_HUMAN,Q53RX0_HUMAN,C9JIJ6_HUMAN,B7Z509_HUMAN		4	999	+			UPI000012B7F6	245					SNV	GLS,splice_region_variant,p.=,ENST00000320717,NM_014905.4;GLS,splice_region_variant,p.=,ENST00000338435,NM_001256310.1;GLS,splice_region_variant,p.=,ENST00000417154,;GLS,splice_region_variant,,ENST00000469774,;GLS,downstream_gene_variant,,ENST00000479552,;GLS,downstream_gene_variant,,ENST00000496170,;	uc002usf.2	c.735G>A	993/4834	2	2			c.735G>A						2	SNP	c.(733-735)AAG>AAA	28	28			ovary(1)|skin(1)	2	Broad	glutaminase precursor		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	191765419		0.323	ENSG00000115419	6346	g.chr2:191765419G>A	cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity							39.87052	KEEP	10	7	-1	48	35	10	7	-1	48.22051	48	35	0.181818	1	0	0	0	0	0	0	1	0	--	--		0	A			GLS_uc002use.2_Silent_p.K245K	228	GBM-32-1970-TP	p.K245K	G	CTGGAGGAAAGGTAATGCTTT	NM_014905	NP_055720	191765419	O94925	GLSK_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		4	999	+	A	A			Silent	245						
GLT1D1	144423	broad.mit.edu	GRCh37	12	129360558	129360558	+	synonymous_variant	Silent	SNP	C	C	T	rs144231014		TCGA-06-0174-01	TCGA-06-0174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281703.6:c.168C>T	p.Cys56=	p.C56=	ENST00000281703	NM_144669.1	56	tgC/tgT	0	T:0.0007		1			T	C	uc010tbh.1	protein_coding					168/1041										0	c.(133-135)TGC>TGT			Superfamily_domains:SSF53756,hmmpanther:PTHR12526:SF331,hmmpanther:PTHR12526	glycosyltransferase 1 domain containing 1			T:0	ENSP00000394692		12-Feb	0.000115	0.000769		0.000347		4.50E-05			rs144231014,COSM2227944	12-Feb	common_variant		ENST00000442111	Transcript			biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups	ENSG00000151948	g.chr12:129360558C>T	26483			LOW								--	--	1																																		GLT1D1_uc001uhx.1_Silent_p.C56C|GLT1D1_uc001uhy.1_RNA	0,1				p.C45C	NM_144669	NP_653270			0,1	GL1D1_HUMAN	GLT1D1	HGNC	Q96MS3	GL1D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)	B4DI76_HUMAN		2	144	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		UPI00015F45E5	56					SNV	GLT1D1,synonymous_variant,p.=,ENST00000442111,;GLT1D1,synonymous_variant,p.=,ENST00000281703,NM_144669.1;GLT1D1,synonymous_variant,p.=,ENST00000537468,;GLT1D1,5_prime_UTR_variant,,ENST00000542193,;GLT1D1,synonymous_variant,p.=,ENST00000441390,;GLT1D1,synonymous_variant,p.=,ENST00000413816,;GLT1D1,synonymous_variant,p.=,ENST00000539044,;	uc010tbh.1	c.135C>T	256/2995	1	1			c.135C>T						12	SNP	c.(133-135)TGC>TGT	8	8				0	Broad	glycosyltransferase 1 domain containing 1			129360558		0.483	ENSG00000151948	6348	g.chr12:129360558C>T	biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups							426.703355	KEEP	86	74	-1	115	121	86	74	-1	428.43587	115	121	0.422018	1	0	0	0	0	0	0	1	0	--	--		0	T			GLT1D1_uc001uhx.1_Silent_p.C56C|GLT1D1_uc001uhy.1_RNA	37	GBM-06-0174-TP	p.C45C	C	CTGAGAACTGCGAGGCTGCCC	NM_144669	NP_653270	129360558	Q96MS3	GL1D1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)	2	144	+	T	T	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Silent	56						
GLT1D1	144423	broad.mit.edu	GRCh37	12	129360490	129360490	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs146263464	byFrequency	TCGA-06-0189-01	TCGA-06-0189-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281703.6:c.100G>A	p.Val34Ile	p.V34I	ENST00000281703	NM_144669.1	34	Gtt/Att	0	A:0.0009	A:0.0015	1	A:0		A	V/I	uc010tbh.1	protein_coding					100/1041										0	c.(67-69)GTT>ATT			hmmpanther:PTHR12526:SF331,hmmpanther:PTHR12526	glycosyltransferase 1 domain containing 1		A:0	A:0.0015	ENSP00000394692	A:0	12-Feb	0.000305	0.000865		0.000116		0.000405			rs146263464,COSM3398516	12-Feb	common_variant		ENST00000442111	Transcript		A:0.0004	biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups	ENSG00000151948	g.chr12:129360490G>A	26483			MODERATE		0.025	neutral	getma.org/?cm=msa&ty=f&p=GL1D1_HUMAN&rb=1&re=153&var=V34I	NA	getma.org/?cm=var&var=hg19,12,129360490,G,A&fts=all	V34I	--	--	1																																		GLT1D1_uc001uhx.1_Missense_Mutation_p.V34I|GLT1D1_uc001uhy.1_RNA	0,1			benign(0.003)	p.V23I	NM_144669	NP_653270	A:0	tolerated(1)	0,1	GL1D1_HUMAN	GLT1D1	HGNC	Q96MS3	GL1D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)	B4DI76_HUMAN		2	76	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		UPI00015F45E5	34					SNV	GLT1D1,missense_variant,p.Val34Ile,ENST00000442111,;GLT1D1,missense_variant,p.Val34Ile,ENST00000281703,NM_144669.1;GLT1D1,missense_variant,p.Val23Ile,ENST00000537468,;GLT1D1,5_prime_UTR_variant,,ENST00000542193,;GLT1D1,missense_variant,p.Val34Ile,ENST00000441390,;GLT1D1,missense_variant,p.Val27Ile,ENST00000413816,;GLT1D1,missense_variant,p.Val34Ile,ENST00000539044,;	uc010tbh.1	c.67G>A	188/2995	1	1			c.67G>A						12	SNP	c.(67-69)GTT>ATT	61	61				0	Broad	glycosyltransferase 1 domain containing 1			129360490		0.473	ENSG00000151948	6348	g.chr12:129360490G>A	biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups							-23.371727	KEEP	12	11	-1	185	154	12	11	-1	42.459906	185	154	0.065476	1	0	0	0	0	1	0	0	0	--	--		0	A			GLT1D1_uc001uhx.1_Missense_Mutation_p.V34I|GLT1D1_uc001uhy.1_RNA	42	GBM-06-0189-TP	p.V23I	G	GCACGTGTGCGTTTTGAAGGA	NM_144669	NP_653270	129360490	Q96MS3	GL1D1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)	2	76	+	A	A	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Missense_Mutation	34						
GLT1D1	0	broad.mit.edu	GRCh37	12	129360521	129360521	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2518-01	TCGA-27-2518-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000442111.2:c.131G>A	p.Arg44Gln	p.R44Q	ENST00000442111		44	cGa/cAa	0			1			A	R/Q	uc010tbh.1	protein_coding					131/1041										0	c.(97-99)CGA>CAA			Superfamily_domains:SSF53756,hmmpanther:PTHR12526:SF331,hmmpanther:PTHR12526	glycosyltransferase 1 domain containing 1				ENSP00000394692		12-Feb	6.59E-05		0.000173	0.000347		1.50E-05		0.000121	rs765354223,COSM2227942,COSM3718446	12-Feb	.		ENST00000442111	Transcript			biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups	ENSG00000151948	g.chr12:129360521G>A	26483			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=GL1D1_HUMAN&rb=1&re=153&var=R44Q	NA	getma.org/?cm=var&var=hg19,12,129360521,G,A&fts=all	R44Q	--	--	1																																		GLT1D1_uc001uhx.1_Missense_Mutation_p.R44Q|GLT1D1_uc001uhy.1_RNA	0,1,1			benign(0)	p.R33Q	NM_144669	NP_653270		deleterious(0.04)	0,1,1	GL1D1_HUMAN	GLT1D1	HGNC	Q96MS3	GL1D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)	B4DI76_HUMAN		2	107	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		UPI00015F45E5	44					SNV	GLT1D1,missense_variant,p.Arg44Gln,ENST00000442111,;GLT1D1,missense_variant,p.Arg44Gln,ENST00000281703,NM_144669.1;GLT1D1,missense_variant,p.Arg33Gln,ENST00000537468,;GLT1D1,5_prime_UTR_variant,,ENST00000542193,;GLT1D1,missense_variant,p.Arg44Gln,ENST00000441390,;GLT1D1,missense_variant,p.Arg37Gln,ENST00000413816,;GLT1D1,missense_variant,p.Arg44Gln,ENST00000539044,;	uc010tbh.1	c.98G>A	219/2995	1	1			c.98G>A						12	SNP	c.(97-99)CGA>CAA	64	64				0	Broad	glycosyltransferase 1 domain containing 1			129360521		0.488	ENSG00000151948	6348	g.chr12:129360521G>A	biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups							95.735807	KEEP	41	19	-1	153	152	41	19	-1	133.505678	153	152	0.155689	1	0	0	0	0	1	0	0	0	--	--		0	A			GLT1D1_uc001uhx.1_Missense_Mutation_p.R44Q|GLT1D1_uc001uhy.1_RNA	198	GBM-27-2518-TP	p.R33Q	G	TTTGAAAGCCGATCTGAGATT	NM_144669	NP_653270	129360521	Q96MS3	GL1D1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)	2	107	+	A	A	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Missense_Mutation	44						
GLT1D1	0	broad.mit.edu	GRCh37	12	129360490	129360490	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs146263464	byFrequency	TCGA-32-4213-01	TCGA-32-4213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000442111.2:c.100G>A	p.Val34Ile	p.V34I	ENST00000442111		34	Gtt/Att	0	A:0.0009	A:0.0015	1	A:0		A	V/I	uc010tbh.1	protein_coding					100/1041										0	c.(67-69)GTT>ATT			hmmpanther:PTHR12526:SF331,hmmpanther:PTHR12526	glycosyltransferase 1 domain containing 1		A:0	A:0.0015	ENSP00000394692	A:0	12-Feb	0.000305	0.000865		0.000116		0.000405			rs146263464,COSM3398516	12-Feb	common_variant		ENST00000442111	Transcript		A:0.0004	biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups	ENSG00000151948	g.chr12:129360490G>A	26483			MODERATE		0.025	neutral	getma.org/?cm=msa&ty=f&p=GL1D1_HUMAN&rb=1&re=153&var=V34I	NA	getma.org/?cm=var&var=hg19,12,129360490,G,A&fts=all	V34I	--	--	1																																		GLT1D1_uc001uhx.1_Missense_Mutation_p.V34I|GLT1D1_uc001uhy.1_RNA	0,1			benign(0.003)	p.V23I	NM_144669	NP_653270	A:0	tolerated(1)	0,1	GL1D1_HUMAN	GLT1D1	HGNC	Q96MS3	GL1D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)	B4DI76_HUMAN		2	76	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		UPI00015F45E5	34					SNV	GLT1D1,missense_variant,p.Val34Ile,ENST00000442111,;GLT1D1,missense_variant,p.Val34Ile,ENST00000281703,NM_144669.1;GLT1D1,missense_variant,p.Val23Ile,ENST00000537468,;GLT1D1,5_prime_UTR_variant,,ENST00000542193,;GLT1D1,missense_variant,p.Val34Ile,ENST00000441390,;GLT1D1,missense_variant,p.Val27Ile,ENST00000413816,;GLT1D1,missense_variant,p.Val34Ile,ENST00000539044,;	uc010tbh.1	c.67G>A	188/2995	1	1			c.67G>A						12	SNP	c.(67-69)GTT>ATT	61	61				0	Broad	glycosyltransferase 1 domain containing 1			129360490		0.473	ENSG00000151948	6348	g.chr12:129360490G>A	biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups							301.124404	KEEP	51	68	-1	111	135	51	68	-1	308.278676	111	135	0.342508	1	0	0	0	0	1	0	0	0	--	--		0	A			GLT1D1_uc001uhx.1_Missense_Mutation_p.V34I|GLT1D1_uc001uhy.1_RNA	247	GBM-32-4213-TP	p.V23I	G	GCACGTGTGCGTTTTGAAGGA	NM_144669	NP_653270	129360490	Q96MS3	GL1D1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)	2	76	+	A	A	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Missense_Mutation	34						
GLT6D1	0	broad.mit.edu	GRCh37	9	138517954	138517954	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2521-01	TCGA-27-2521-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371763.1:c.218G>A	p.Arg73Gln	p.R73Q	ENST00000371763	NM_182974.2	73	cGg/cAg	0			1			T	R/Q	uc010nbd.1	protein_coding	YES	CCDS43900.1			218/831									ovary(1)	1	c.(217-219)CGG>CAG			Superfamily_domains:SSF53448,Gene3D:3.90.550.10,Pfam_domain:PF03414,hmmpanther:PTHR10462,hmmpanther:PTHR10462:SF27	glycosyltransferase 6 domain containing 1				ENSP00000360829		5-Apr	5.79E-05	0.000102				7.49E-05		6.06E-05	rs756944725,COSM3413449	5-Apr	.		ENST00000371763	Transcript			carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	ENSG00000204007	g.chr9:138517954C>T	23671			MODERATE		-0.635	neutral	getma.org/?cm=msa&ty=f&p=GL6D1_HUMAN&rb=15&re=307&var=R73Q	getma.org/pdb.php?prot=GL6D1_HUMAN&from=15&to=307&var=R73Q	getma.org/?cm=var&var=hg19,9,138517954,C,T&fts=all	R73Q	--	--	1																																			0,1	1		benign(0.013)	p.R73Q	NM_182974	NP_892019		tolerated(0.8)	0,1	GL6D1_HUMAN	GLT6D1	HGNC	Q7Z4J2	GL6D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)			4	472	-		Myeloproliferative disorder(178;0.0821)	UPI0000246F68	73			Lumenal (Potential).		SNV	GLT6D1,missense_variant,p.Arg73Gln,ENST00000371763,NM_182974.2;	uc010nbd.1	c.218G>A	472/1526	1	1			c.218G>A						9	SNP	c.(217-219)CGG>CAG	7	7			ovary(1)	1	Broad	glycosyltransferase 6 domain containing 1			138517954		0.498	ENSG00000204007	6351	g.chr9:138517954C>T	carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups							0.19088	KEEP	6	2	-1	45	32	6	2	-1	13.952118	45	32	0.078947	1	0	0	0	0	1	0	0	0	--	--		0	T				200	GBM-27-2521-TP	p.R73Q	C	AGTGATATTCCGCCTTCTGTA	NM_182974	NP_892019	138517954	Q7Z4J2	GL6D1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)	4	472	-	T	T		Myeloproliferative disorder(178;0.0821)	Missense_Mutation	73			Lumenal (Potential).			
GLT8D2	83468	broad.mit.edu	GRCh37	12	104390580	104390580	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0211-01	TCGA-06-0211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360814.4:c.533C>T	p.Ala178Val	p.A178V	ENST00000360814	NM_031302.3	178	gCg/gTg	0	A:0.0002		1			A	A/V	uc001tkh.1	protein_coding	YES	CCDS9096.1			533/1050									ovary(1)|skin(1)	2	c.(532-534)GCG>GTG			hmmpanther:PTHR13778,hmmpanther:PTHR13778:SF2,Gene3D:3.90.550.10,Pfam_domain:PF01501,Superfamily_domains:SSF53448	glycosyltransferase 8 domain containing 2			A:0	ENSP00000354053		11-Aug									rs373952967,COSM2064444	11-Aug	.		ENST00000360814	Transcript				integral to membrane	transferase activity, transferring glycosyl groups	ENSG00000120820	g.chr12:104390580G>A	24890			MODERATE		0.58	neutral	getma.org/?cm=msa&ty=f&p=GL8D2_HUMAN&rb=52&re=325&var=A178V	getma.org/pdb.php?prot=GL8D2_HUMAN&from=52&to=325&var=A178V	getma.org/?cm=var&var=hg19,12,104390580,G,A&fts=all	A178V	--	--	1																																		GLT8D2_uc001tki.1_Missense_Mutation_p.A178V	0,1	1		possibly_damaging(0.483)	p.A178V	NM_031302	NP_112592		tolerated(0.29)	0,1	GL8D2_HUMAN	GLT8D2	HGNC	Q9H1C3	GL8D2_HUMAN			F8VZP2_HUMAN		8	939	-			UPI000004B633	178			Lumenal (Potential).		SNV	GLT8D2,missense_variant,p.Ala178Val,ENST00000360814,NM_031302.3;GLT8D2,missense_variant,p.Ala178Val,ENST00000548660,;GLT8D2,missense_variant,p.Ala178Val,ENST00000546436,;GLT8D2,downstream_gene_variant,,ENST00000546851,;GLT8D2,non_coding_transcript_exon_variant,,ENST00000552572,;GLT8D2,downstream_gene_variant,,ENST00000550816,;	uc001tkh.1	c.533C>T	939/1880	1	1			c.533C>T						12	SNP	c.(532-534)GCG>GTG	64	64			ovary(1)|skin(1)	2	Broad	glycosyltransferase 8 domain containing 2			104390580		0.483	ENSG00000120820	6353	g.chr12:104390580G>A		integral to membrane	transferase activity, transferring glycosyl groups							165.307259	KEEP	34	37	-1	45	65	34	37	-1	167.054846	45	65	0.385621	1	0	0	0	0	1	0	0	0	--	--		0	A			GLT8D2_uc001tki.1_Missense_Mutation_p.A178V	48	GBM-06-0211-TP	p.A178V	G	GAAAGCCGCCGCGTGGCCCAG	NM_031302	NP_112592	104390580	Q9H1C3	GL8D2_HUMAN	0			8	939	-	A	A			Missense_Mutation	178			Lumenal (Potential).			
GLT8D2	0	broad.mit.edu	GRCh37	12	104390580	104390580	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-87-5896-01	TCGA-87-5896-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360814.4:c.533C>T	p.Ala178Val	p.A178V	ENST00000360814	NM_031302.3	178	gCg/gTg	0	A:0.0002		1			A	A/V	uc001tkh.1	protein_coding	YES	CCDS9096.1			533/1050									ovary(1)|skin(1)	2	c.(532-534)GCG>GTG			hmmpanther:PTHR13778,hmmpanther:PTHR13778:SF2,Gene3D:3.90.550.10,Pfam_domain:PF01501,Superfamily_domains:SSF53448	glycosyltransferase 8 domain containing 2			A:0	ENSP00000354053		11-Aug									rs373952967,COSM2064444	11-Aug	.		ENST00000360814	Transcript				integral to membrane	transferase activity, transferring glycosyl groups	ENSG00000120820	g.chr12:104390580G>A	24890			MODERATE		0.58	neutral	getma.org/?cm=msa&ty=f&p=GL8D2_HUMAN&rb=52&re=325&var=A178V	getma.org/pdb.php?prot=GL8D2_HUMAN&from=52&to=325&var=A178V	getma.org/?cm=var&var=hg19,12,104390580,G,A&fts=all	A178V	--	--	1																																		GLT8D2_uc001tki.1_Missense_Mutation_p.A178V	0,1	1		possibly_damaging(0.483)	p.A178V	NM_031302	NP_112592		tolerated(0.29)	0,1	GL8D2_HUMAN	GLT8D2	HGNC	Q9H1C3	GL8D2_HUMAN			F8VZP2_HUMAN		8	939	-			UPI000004B633	178			Lumenal (Potential).		SNV	GLT8D2,missense_variant,p.Ala178Val,ENST00000360814,NM_031302.3;GLT8D2,missense_variant,p.Ala178Val,ENST00000548660,;GLT8D2,missense_variant,p.Ala178Val,ENST00000546436,;GLT8D2,downstream_gene_variant,,ENST00000546851,;GLT8D2,non_coding_transcript_exon_variant,,ENST00000552572,;GLT8D2,downstream_gene_variant,,ENST00000550816,;	uc001tkh.1	c.533C>T	939/1880	1	1			c.533C>T						12	SNP	c.(532-534)GCG>GTG	64	64			ovary(1)|skin(1)	2	Broad	glycosyltransferase 8 domain containing 2			104390580		0.483	ENSG00000120820	6353	g.chr12:104390580G>A		integral to membrane	transferase activity, transferring glycosyl groups							101.575907	KEEP	12	31	-1	29	43	12	31	-1	102.797519	29	43	0.378947	1	0	0	0	0	1	0	0	0	--	--		0	A			GLT8D2_uc001tki.1_Missense_Mutation_p.A178V	291	GBM-87-5896-TP	p.A178V	G	GAAAGCCGCCGCGTGGCCCAG	NM_031302	NP_112592	104390580	Q9H1C3	GL8D2_HUMAN	0			8	939	-	A	A			Missense_Mutation	178			Lumenal (Potential).			
GLT8D2	83468		GRCh37	12	104387178	104387178	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000360814.4:c.872G>C	p.Arg291Thr	p.R291T	ENST00000360814	NM_031302.3	291	aGg/aCg	0																																																																																																																																																																																																																																												
GLTSCR2	0	broad.mit.edu	GRCh37	19	48259848	48259848	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs141718194		TCGA-06-0216-01	TCGA-06-0216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000246802.5:c.1360C>T	p.Arg454Ter	p.R454*	ENST00000246802	NM_015710.4	454	Cga/Tga	0	T:0		1			T	R/*	uc002phm.2	protein_coding	YES	CCDS12705.1			1360/1437									central_nervous_system(1)	1	c.(1360-1362)CGA>TGA			PIRSF_domain:PIRSF017302,hmmpanther:PTHR14211	glioma tumor suppressor candidate region gene 2			T:0.0001	ENSP00000246802		13-Nov	1.65E-05				0.000151	1.50E-05			rs141718194,COSM2150923	13-Nov	.		ENST00000246802	Transcript				nucleolus		ENSG00000105373	g.chr19:48259848C>T	4333			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,19,48259848,C,T&fts=all	R454*	--	--	1																																		GLTSCR2_uc002phk.2_3'UTR|GLTSCR2_uc002phl.2_Nonsense_Mutation_p.R454*|GLTSCR2_uc010elj.2_Intron|GLTSCR2_uc010elk.1_RNA	0,1	1			p.R454*	NM_015710	NP_056525			0,1	GSCR2_HUMAN	GLTSCR2	HGNC	Q9NZM5	GSCR2_HUMAN		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)			11	1384	+		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)	UPI0000054111	454	EGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAFR EIQL -> RGQHSFETGSRAFRGGI (in Ref. 3; AAG30413).|PEGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAF REIQ -> VLTVSCRGAPCPVMTPSLLPVPPRGYGRHHGCP WAGPVGPMPRG (in Ref. 5).				SNV	GLTSCR2,stop_gained,p.Arg454Ter,ENST00000246802,NM_015710.4;GLTSCR2,stop_gained,p.Arg176Ter,ENST00000597985,;GLTSCR2,stop_gained,p.Arg125Ter,ENST00000598959,;GLTSCR2,stop_gained,p.Arg61Ter,ENST00000594182,;GLTSCR2,missense_variant,p.Ser245Leu,ENST00000595143,;SNORD23,downstream_gene_variant,,ENST00000408876,NR_003048.1;CTD-2571L23.6,downstream_gene_variant,,ENST00000602048,;GLTSCR2,non_coding_transcript_exon_variant,,ENST00000598681,;GLTSCR2,downstream_gene_variant,,ENST00000599582,;GLTSCR2,non_coding_transcript_exon_variant,,ENST00000600410,;GLTSCR2,non_coding_transcript_exon_variant,,ENST00000598285,;GLTSCR2,downstream_gene_variant,,ENST00000594525,;	uc002phm.2	c.1360C>T	1398/1528	5	2			c.1360C>T						19	SNP	c.(1360-1362)CGA>TGA	35	35			central_nervous_system(1)	1	Broad	glioma tumor suppressor candidate region gene 2			48259848		0.632	ENSG00000105373	6357	g.chr19:48259848C>T		nucleolus		Colon(58;613 1041 9473 10089 15241)			Colon(58;613 1041 9473 10089 15241)			76.438096	KEEP	18	17	-1	27	22	18	17	-1	76.790225	27	22	0.419355	1	0	0	0	0	0	1	0	0	--	--		0	T			GLTSCR2_uc002phk.2_3'UTR|GLTSCR2_uc002phl.2_Nonsense_Mutation_p.R454*|GLTSCR2_uc010elj.2_Intron|GLTSCR2_uc010elk.1_RNA	51	GBM-06-0216-TP	p.R454*	C	GATCGAGCCTCGAGAGAGAGC	NM_015710	NP_056525	48259848	Q9NZM5	GSCR2_HUMAN	0		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)	11	1384	+	T	T		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)	Nonsense_Mutation	454	EGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAFR EIQL -> RGQHSFETGSRAFRGGI (in Ref. 3; AAG30413).|PEGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAF REIQ -> VLTVSCRGAPCPVMTPSLLPVPPRGYGRHHGCP WAGPVGPMPRG (in Ref. 5).					
GLUD2	0	broad.mit.edu	GRCh37	X	120183085	120183085	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328078.1:c.1547G>A	p.Arg516His	p.R516H	ENST00000328078	NM_012084.3	516	cGt/cAt	0			1			A	R/H	uc004eto.2	protein_coding	YES	CCDS14603.1			1547/1677									pancreas(1)	1	c.(1546-1548)CGT>CAT			hmmpanther:PTHR11606:SF10,hmmpanther:PTHR11606,Gene3D:3.40.50.720,SMART_domains:SM00839,Superfamily_domains:SSF51735	glutamate dehydrogenase 2 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)			ENSP00000327589		1-Jan	0.000115					2.08E-05		0.000691	rs201021827,COSM2154822	1-Jan	common_variant		ENST00000328078	Transcript			glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	ENSG00000182890	g.chrX:120183085G>A	4336			MODERATE		2.165	medium	getma.org/?cm=msa&ty=f&p=DHE4_HUMAN&rb=477&re=558&var=R516H	getma.org/pdb.php?prot=DHE4_HUMAN&from=477&to=558&var=R516H	getma.org/?cm=var&var=hg19,X,120183085,G,A&fts=all	R516H	--	--	1																																			0,1	1		benign(0.012)	p.R516H	NM_012084	NP_036216		deleterious(0.03)	0,1	DHE4_HUMAN	GLUD2	HGNC	P49448	DHE4_HUMAN			Q9BSD0_HUMAN		1	1624	+			UPI0000129301	516					SNV	GLUD2,missense_variant,p.Arg516His,ENST00000328078,NM_012084.3;	uc004eto.2	c.1547G>A	1624/2333	2	2			c.1547G>A						23	SNP	c.(1546-1548)CGT>CAT	24	24			pancreas(1)	1	Broad	glutamate dehydrogenase 2 precursor		L-Glutamic Acid(DB00142)|NADH(DB00157)	120183085		0.468	ENSG00000182890	6359	g.chrX:120183085G>A	glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding							291.878127	KEEP	45	60	-1	47	71	45	60	-1	292.172153	47	71	0.459716	1	0	0	0	0	1	0	0	0	--	--		0	A				139	GBM-14-0817-TP	p.R516H	G	ACAATGGAGCGTTCTGCCAGG	NM_012084	NP_036216	120183085	P49448	DHE4_HUMAN	0			1	1624	+	A	A			Missense_Mutation	516						
GLUD2	0	broad.mit.edu	GRCh37	X	120181970	120181970	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-16-1045-01	TCGA-16-1045-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328078.1:c.432G>A	p.Thr144=	p.T144=	ENST00000328078	NM_012084.3	144	acG/acA	0			1			A	T	uc004eto.2	protein_coding	YES	CCDS14603.1			432/1677									pancreas(1)	1	c.(430-432)ACG>ACA			hmmpanther:PTHR11606:SF10,hmmpanther:PTHR11606,Gene3D:3.40.192.10,Pfam_domain:PF02812,Superfamily_domains:SSF53223	glutamate dehydrogenase 2 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)			ENSP00000327589		1-Jan	8.24E-06					2.10E-05			rs772586560,COSM1114199	1-Jan	.		ENST00000328078	Transcript			glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	ENSG00000182890	g.chrX:120181970G>A	4336			LOW								--	--	1																																			0,1	1			p.T144T	NM_012084	NP_036216			0,1	DHE4_HUMAN	GLUD2	HGNC	P49448	DHE4_HUMAN			Q9BSD0_HUMAN		1	509	+			UPI0000129301	144					SNV	GLUD2,synonymous_variant,p.=,ENST00000328078,NM_012084.3;	uc004eto.2	c.432G>A	509/2333	2	2			c.432G>A						23	SNP	c.(430-432)ACG>ACA	44	44			pancreas(1)	1	Broad	glutamate dehydrogenase 2 precursor		L-Glutamic Acid(DB00142)|NADH(DB00157)	120181970		0.572	ENSG00000182890	6359	g.chrX:120181970G>A	glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding							63.604765	KEEP	18	16	-1	67	58	18	16	-1	74.746101	67	58	0.207143	1	0	0	0	0	0	0	1	0	--	--		0	A				157	GBM-16-1045-TP	p.T144T	G	AGCACCGCACGCCCTGCAAGG	NM_012084	NP_036216	120181970	P49448	DHE4_HUMAN	0			1	509	+	A	A			Silent	144						
GLUL	0	broad.mit.edu	GRCh37	1	182356407	182356407	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01	TCGA-12-3652-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311223.5:c.187G>A	p.Asp63Asn	p.D63N	ENST00000311223	NM_002065.5	63	Gat/Aat	0			1			T	D/N	uc001gpa.1	protein_coding	YES	CCDS1344.1			187/1122										0	c.(187-189)GAT>AAT			Gene3D:2bvcA01,Pfam_domain:PF03951,PROSITE_patterns:PS00180,hmmpanther:PTHR20852,hmmpanther:PTHR20852:SF45,Superfamily_domains:SSF54368	glutamine synthetase	Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)			ENSP00000307900		8-Apr									COSM3400072	8-Apr	.		ENST00000311223	Transcript	1		cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding	ENSG00000135821	g.chr1:182356407C>T	4341			MODERATE		3.58	high	getma.org/?cm=msa&ty=f&p=GLNA_HUMAN&rb=24&re=104&var=D63N	getma.org/pdb.php?prot=GLNA_HUMAN&from=24&to=104&var=D63N	getma.org/?cm=var&var=hg19,1,182356407,C,T&fts=all	D63N	--	--	1																																		GLUL_uc010pnt.1_5'Flank|GLUL_uc001gpb.1_Missense_Mutation_p.D63N|GLUL_uc001gpc.1_Missense_Mutation_p.D63N|GLUL_uc001gpd.1_Missense_Mutation_p.D63N	1	1		probably_damaging(0.998)	p.D63N	NM_001033056	NP_001028228		deleterious(0)	1	GLNA_HUMAN	GLUL	HGNC	P15104	GLNA_HUMAN			B4DWM6_HUMAN,A8YXX4_HUMAN		3	399	-			UPI000012B6E3	63					SNV	GLUL,missense_variant,p.Asp63Asn,ENST00000311223,NM_002065.5;GLUL,missense_variant,p.Asp63Asn,ENST00000331872,NM_001033044.2;GLUL,missense_variant,p.Asp63Asn,ENST00000417584,NM_001033056.2;GLUL,missense_variant,p.Asp63Asn,ENST00000339526,;GLUL,non_coding_transcript_exon_variant,,ENST00000491322,;GLUL,non_coding_transcript_exon_variant,,ENST00000484996,;GLUL,non_coding_transcript_exon_variant,,ENST00000480604,;GLUL,non_coding_transcript_exon_variant,,ENST00000475808,;GLUL,non_coding_transcript_exon_variant,,ENST00000462444,;GLUL,non_coding_transcript_exon_variant,,ENST00000489818,;GLUL,intron_variant,,ENST00000463851,;GLUL,upstream_gene_variant,,ENST00000461447,;	uc001gpa.1	c.187G>A	1084/4719	1	1			c.187G>A						1	SNP	c.(187-189)GAT>AAT	16	16				0	Broad	glutamine synthetase		Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	182356407		0.473	ENSG00000135821	6360	g.chr1:182356407C>T	cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding							176.389693	KEEP	27	34	-1	44	31	27	34	-1	176.603424	44	31	0.455285	1	0	0	0	0	1	0	0	0	--	--		0	T			GLUL_uc010pnt.1_5'Flank|GLUL_uc001gpb.1_Missense_Mutation_p.D63N|GLUL_uc001gpc.1_Missense_Mutation_p.D63N|GLUL_uc001gpd.1_Missense_Mutation_p.D63N	127	GBM-12-3652-TP	p.D63N	C	CTAGAGCCATCGAAATTCCAC	NM_001033056	NP_001028228	182356407	P15104	GLNA_HUMAN	0			3	399	-	T	T			Missense_Mutation	63						
GLYAT	0	broad.mit.edu	GRCh37	11	58478160	58478160	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5960-01	TCGA-19-5960-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344743.3:c.391C>T	p.Arg131Cys	p.R131C	ENST00000344743	NM_201648.2	131	Cgc/Tgc	0		A:0	1	A:0		A	R/C	uc001nnb.2	protein_coding	YES	CCDS7970.1			391/891										0	c.(391-393)CGC>TGC			hmmpanther:PTHR15298,hmmpanther:PTHR15298:SF5,Pfam_domain:PF06021,Superfamily_domains:SSF55729	glycine-N-acyltransferase isoform a	Glycine(DB00145)	A:0		ENSP00000340200	A:0	6-May	0.00116	9.61E-05	8.66E-05		0.000151			0.00836	rs200442404,COSM192884	6-May	common_variant		ENST00000344743	Transcript		A:0.0022	acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	ENSG00000149124	g.chr11:58478160G>A	13734			MODERATE		-1.005	neutral	getma.org/?cm=msa&ty=f&p=GLYAT_HUMAN&rb=2&re=206&var=R131C	NA	getma.org/?cm=var&var=hg19,11,58478160,G,A&fts=all	R131C	--	--	1																																		GLYAT_uc001nnc.2_Missense_Mutation_p.R131C	0,1	1		benign(0.001)	p.R131C	NM_201648	NP_964011	A:0.0112	tolerated(0.58)	0,1	GLYAT_HUMAN	GLYAT	HGNC	Q6IB77	GLYAT_HUMAN					5	546	-		Breast(21;0.0044)|all_epithelial(135;0.0157)	UPI00003667C7	131					SNV	GLYAT,missense_variant,p.Arg131Cys,ENST00000344743,NM_201648.2;GLYAT,missense_variant,p.Arg131Cys,ENST00000278400,NM_005838.3;GLYAT,missense_variant,p.Arg131Cys,ENST00000529732,;GLYAT,intron_variant,,ENST00000586098,;	uc001nnb.2	c.391C>T	533/1735	2	2			c.391C>T						11	SNP	c.(391-393)CGC>TGC	36	36				0	Broad	glycine-N-acyltransferase isoform a		Glycine(DB00145)	58478160		0.428	ENSG00000149124	6361	g.chr11:58478160G>A	acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity		p.R131C(SNU1105-Tumor)|p.R131C(REH-Tumor)	191		p.R131C(SNU1105-Tumor)|p.R131C(REH-Tumor)	191	238.514072	KEEP	31	48	-1	4	4	31	48	-1	251.292902	4	4	0.9	1	0	0	0	0	1	0	0	0	--	--		0	A			GLYAT_uc001nnc.2_Missense_Mutation_p.R131C	178	GBM-19-5960-TP	p.R131C	G	TAGAGAATGCGTTGTGTTTGT	NM_201648	NP_964011	58478160	Q6IB77	GLYAT_HUMAN	0			5	546	-	A	A		Breast(21;0.0044)|all_epithelial(135;0.0157)	Missense_Mutation	131						
GLYATL1	92292	broad.mit.edu	GRCh37	11	58723492	58723492	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0213-01	TCGA-06-0213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300079.5:c.994C>T	p.Pro332Ser	p.P332S	ENST00000300079	NM_001220496.1	332	Cca/Tca	0			1			T	P/S	uc001nnf.2	protein_coding		CCDS55768.1			901/909									ovary(1)	1	c.(901-903)CCA>TCA			hmmpanther:PTHR15298,hmmpanther:PTHR15298:SF7	SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a;	Glycine(DB00145)			ENSP00000322223		8-Aug									COSM2150848,COSM2150849	8-Aug	.		ENST00000317391	Transcript				mitochondrion	glycine N-acyltransferase activity	ENSG00000166840	g.chr11:58723492C>T	30519			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=GLYL1_HUMAN&rb=267&re=302&var=P301S	NA	getma.org/?cm=var&var=hg19,11,58723492,C,T&fts=all	P301S	--	--	1																																		uc001nng.1_Intron|GLYATL1_uc001nnh.1_Missense_Mutation_p.P332S|GLYATL1_uc001nni.1_Missense_Mutation_p.P301S|GLYATL1_uc001nnj.1_Missense_Mutation_p.P301S	1,1			benign(0.383)	p.P301S				tolerated_low_confidence(0.06)	1,1	GLYL1_HUMAN	GLYATL1	HGNC	Q969I3	GLYL1_HUMAN			E9PR27_HUMAN,E9PJV1_HUMAN,B4DU33_HUMAN,A9ZM15_HUMAN		8	1277	+			UPI000003B00E	301					SNV	GLYATL1,missense_variant,p.Pro332Ser,ENST00000300079,NM_001220496.1,NM_080661.3;GLYATL1,missense_variant,p.Pro301Ser,ENST00000317391,NM_001220494.1;GLYATL1,downstream_gene_variant,,ENST00000526351,;GLYATL1,downstream_gene_variant,,ENST00000525608,;GLYATL1,downstream_gene_variant,,ENST00000532726,;RP11-142C4.6,intron_variant,,ENST00000533954,;RP11-142C4.6,downstream_gene_variant,,ENST00000525714,;GLYATL1,intron_variant,,ENST00000534063,;GLYATL1,downstream_gene_variant,,ENST00000533864,;GLYATL1,downstream_gene_variant,,ENST00000524403,;GLYATL1,3_prime_UTR_variant,,ENST00000530240,;GLYATL1,3_prime_UTR_variant,,ENST00000527708,;GLYATL1,non_coding_transcript_exon_variant,,ENST00000534119,;GLYATL1,downstream_gene_variant,,ENST00000524881,;GLYATL1,downstream_gene_variant,,ENST00000530774,;	uc001nnf.2	c.901C>T	1241/1627	1	1			c.901C>T						11	SNP	c.(901-903)CCA>TCA	3	3			ovary(1)	1	Broad	SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a;		Glycine(DB00145)	58723492		0.388	ENSG00000166840	6362	g.chr11:58723492C>T		mitochondrion	glycine N-acyltransferase activity							71.544725	KEEP	14	21	-1	48	47	14	21	-1	77.908702	48	47	0.25	1	0	0	0	0	1	0	0	0	--	--		0	T			uc001nng.1_Intron|GLYATL1_uc001nnh.1_Missense_Mutation_p.P332S|GLYATL1_uc001nni.1_Missense_Mutation_p.P301S|GLYATL1_uc001nnj.1_Missense_Mutation_p.P301S	49	GBM-06-0213-TP	p.P301S	C	GAATCTAGTTCCATTTTAGAC			58723492	Q969I3	GLYL1_HUMAN	0			8	1277	+	T	T			Missense_Mutation	301						
GLYATL1	92292		GRCh37	11	58722269	58722269	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000300079.5:c.306C>A	p.Tyr102Ter	p.Y102*	ENST00000300079	NM_001220496.1	102	taC/taA	0																																																																																																																																																																																																																																												
GLYATL2	0	broad.mit.edu	GRCh37	11	58605817	58605817	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-14-1450-01	TCGA-14-1450-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000287275.1:c.103A>G	p.Lys35Glu	p.K35E	ENST00000287275	NM_145016.3	35	Aaa/Gaa	0			1			C	K/E	uc001nnd.3	protein_coding	YES	CCDS41649.1			103/885									ovary(1)|skin(1)	2	c.(103-105)AAA>GAA			hmmpanther:PTHR15298:SF4,hmmpanther:PTHR15298,Pfam_domain:PF06021	glycine-N-acyltransferase-like 2	Glycine(DB00145)			ENSP00000287275		6-Mar									COSM3397900	6-Mar	.		ENST00000287275	Transcript				mitochondrion	glycine N-acyltransferase activity	ENSG00000156689	g.chr11:58605817T>C	24178			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=GLYL2_HUMAN&rb=1&re=201&var=K35E	NA	getma.org/?cm=var&var=hg19,11,58605817,T,C&fts=all	K35E	--	--	1																																		GLYATL2_uc009ymq.2_Missense_Mutation_p.K35E	1	1		benign(0.131)	p.K35E	NM_145016	NP_659453		tolerated(0.16)	1	GLYL2_HUMAN	GLYATL2	HGNC	Q8WU03	GLYL2_HUMAN					3	234	-		Breast(21;0.0044)|all_epithelial(135;0.0216)	UPI000003FFB7	35					SNV	GLYATL2,missense_variant,p.Lys35Glu,ENST00000287275,NM_145016.3;GLYATL2,missense_variant,p.Lys35Glu,ENST00000532258,;GLYATL2,non_coding_transcript_exon_variant,,ENST00000533636,;	uc001nnd.3	c.103A>G	494/1636	3	3			c.103A>G						11	SNP	c.(103-105)AAA>GAA	54	54			ovary(1)|skin(1)	2	Broad	glycine-N-acyltransferase-like 2		Glycine(DB00145)	58605817		0.423	ENSG00000156689	6363	g.chr11:58605817T>C		mitochondrion	glycine N-acyltransferase activity			196			196	87.435739	KEEP	15	14	-1	20	16	15	14	-1	87.538056	20	16	0.454545	1	0	0	0	0	1	0	0	0	--	--		0	C			GLYATL2_uc009ymq.2_Missense_Mutation_p.K35E	145	GBM-14-1450-TP	p.K35E	T	TTTTTATCTTTTATGTTGAAA	NM_145016	NP_659453	58605817	Q8WU03	GLYL2_HUMAN	0			3	234	-	C	C		Breast(21;0.0044)|all_epithelial(135;0.0216)	Missense_Mutation	35						
GLYR1	0	broad.mit.edu	GRCh37	16	4863830	4863830	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01	TCGA-19-2631-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321919.9:c.1027G>A	p.Gly343Ser	p.G343S	ENST00000321919	NM_032569.3	343	Ggc/Agc	0			1			T	G/S	uc002cxx.3	protein_coding	YES	CCDS10524.1			1027/1662										0	c.(1027-1029)GGC>AGC			hmmpanther:PTHR22981,hmmpanther:PTHR22981:SF56,Gene3D:3.40.50.720,Pfam_domain:PF03446,Superfamily_domains:SSF51735	cytokine-like nuclear factor n-pac				ENSP00000322716		16-Dec									COSM2156385	16-Dec	.		ENST00000321919	Transcript			pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	ENSG00000140632	g.chr16:4863830C>T	24434			MODERATE		2.36	medium	getma.org/?cm=msa&ty=f&p=GLYR1_HUMAN&rb=267&re=429&var=G343S	getma.org/pdb.php?prot=GLYR1_HUMAN&from=267&to=429&var=G343S	getma.org/?cm=var&var=hg19,16,4863830,C,T&fts=all	G343S	--	--	1																																		GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Missense_Mutation_p.G257S|GLYR1_uc002cya.2_Missense_Mutation_p.G337S|GLYR1_uc010uxv.1_Missense_Mutation_p.G262S	1	1		probably_damaging(0.972)	p.G343S	NM_032569	NP_115958		deleterious(0)	1	GLYR1_HUMAN	GLYR1	HGNC	Q49A26	GLYR1_HUMAN			K7EPU6_HUMAN		12	1064	-			UPI00001FF8EE	343					SNV	GLYR1,missense_variant,p.Gly343Ser,ENST00000321919,NM_032569.3;GLYR1,missense_variant,p.Gly326Ser,ENST00000381983,;GLYR1,missense_variant,p.Gly314Ser,ENST00000589389,;GLYR1,missense_variant,p.Gly262Ser,ENST00000436648,;GLYR1,missense_variant,p.Gly337Ser,ENST00000591451,;GLYR1,downstream_gene_variant,,ENST00000588297,;GLYR1,3_prime_UTR_variant,,ENST00000588732,;GLYR1,3_prime_UTR_variant,,ENST00000587936,;GLYR1,downstream_gene_variant,,ENST00000591846,;GLYR1,downstream_gene_variant,,ENST00000586095,;	uc002cxx.3	c.1027G>A	1104/3772	1	1			c.1027G>A						16	SNP	c.(1027-1029)GGC>AGC	4	4				0	Broad	cytokine-like nuclear factor n-pac			4863830		0.612	ENSG00000140632	6365	g.chr16:4863830C>T	pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity							22.790304	KEEP	3	8	-1	14	10	3	8	-1	23.647414	14	10	0.307692	1	0	0	0	0	1	0	0	0	--	--		0	T			GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Missense_Mutation_p.G257S|GLYR1_uc002cya.2_Missense_Mutation_p.G337S|GLYR1_uc010uxv.1_Missense_Mutation_p.G262S	167	GBM-19-2631-TP	p.G343S	C	CCACTGGGGCCCAGCACCAGC	NM_032569	NP_115958	4863830	Q49A26	GLYR1_HUMAN	0			12	1064	-	T	T			Missense_Mutation	343						
GMIP	51291	broad.mit.edu	GRCh37	19	19745707	19745707	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000203556.4:c.1781G>A	p.Arg594His	p.R594H	ENST00000203556	NM_016573.2	594	cGt/cAt	0			1			T	R/H	uc002nnd.2	protein_coding	YES	CCDS12408.1			1781/2913									ovary(1)	1	c.(1780-1782)CGT>CAT			PROSITE_profiles:PS50238,hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF16,Pfam_domain:PF00620,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350	GEM interacting protein				ENSP00000203556		17/21									COSM2152187	17/21	.		ENST00000203556	Transcript			negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	ENSG00000089639	g.chr19:19745707C>T	24852			MODERATE		2.21	medium	getma.org/?cm=msa&ty=f&p=GMIP_HUMAN&rb=565&re=728&var=R594H	getma.org/pdb.php?prot=GMIP_HUMAN&from=565&to=728&var=R594H	getma.org/?cm=var&var=hg19,19,19745707,C,T&fts=all	R594H	--	--	1																																		GMIP_uc010xrb.1_Missense_Mutation_p.R568H|GMIP_uc010xrc.1_Missense_Mutation_p.R565H	1	1		probably_damaging(1)	p.R594H	NM_016573	NP_057657		deleterious(0)	1	GMIP_HUMAN	GMIP	HGNC	Q9P107	GMIP_HUMAN			K7EQR5_HUMAN		17	1898	-			UPI0000203862	594			Rho-GAP.		SNV	GMIP,missense_variant,p.Arg594His,ENST00000203556,NM_016573.2;GMIP,missense_variant,p.Arg565His,ENST00000445806,;GMIP,missense_variant,p.Arg568His,ENST00000587238,;GMIP,downstream_gene_variant,,ENST00000593186,;GMIP,non_coding_transcript_exon_variant,,ENST00000586269,;GMIP,downstream_gene_variant,,ENST00000588171,;GMIP,downstream_gene_variant,,ENST00000587713,;GMIP,downstream_gene_variant,,ENST00000591047,;	uc002nnd.2	c.1781G>A	1919/3538	2	2			c.1781G>A						19	SNP	c.(1780-1782)CGT>CAT	45	45			ovary(1)	1	Broad	GEM interacting protein			19745707		0.592	ENSG00000089639	6373	g.chr19:19745707C>T	negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity							83.057917	KEEP	21	25	-1	71	84	21	25	-1	93.750699	71	84	0.225806	1	0	0	0	0	1	0	0	0	--	--		0	T			GMIP_uc010xrb.1_Missense_Mutation_p.R568H|GMIP_uc010xrc.1_Missense_Mutation_p.R565H	73	GBM-06-0877-TP	p.R594H	C	CCGCTCCACACGGACCCGGGA	NM_016573	NP_057657	19745707	Q9P107	GMIP_HUMAN	0			17	1898	-	T	T			Missense_Mutation	594			Rho-GAP.			
GMPR2	0	broad.mit.edu	GRCh37	14	24707579	24707581	+	inframe_deletion	In_Frame_Del	DEL	GAA	GAA	-			TCGA-19-2629-01	TCGA-19-2629-01	GAA	GAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355299.4:c.829_831delAAG	p.Lys277del	p.K277del	ENST00000355299	NM_001002000.1	275	atGAAg/atg	0			1			-	MK/M	uc001wnr.2	protein_coding		CCDS41935.1			825-827/1047									ovary(3)	3	c.(823-828)ATGAAG>ATG			hmmpanther:PTHR11911:SF81,hmmpanther:PTHR11911,TIGRFAM_domain:TIGR01305,Pfam_domain:PF00478,Gene3D:3.20.20.70,PIRSF_domain:PIRSF000235,Superfamily_domains:SSF51412	guanosine monophosphate reductase 2 isoform 2				ENSP00000347449		10-Sep									COSM2156329,COSM2156330,COSM2156328	10-Sep	.		ENST00000355299	Transcript			nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding	ENSG00000100938	g.chr14:24707579_24707581delGAA	4377	4		MODERATE								--	--	1																																		GMPR2_uc001wnv.2_In_Frame_Del_p.K114del|GMPR2_uc001wns.2_In_Frame_Del_p.K277del|GMPR2_uc001wnt.2_In_Frame_Del_p.K244del|GMPR2_uc001wnu.2_In_Frame_Del_p.K241del|GMPR2_uc001wnw.2_In_Frame_Del_p.K277del|GMPR2_uc010all.2_In_Frame_Del_p.K249del|GMPR2_uc001wnx.2_In_Frame_Del_p.K295del|GMPR2_uc010tod.1_In_Frame_Del_p.K244del|GMPR2_uc010alk.1_In_Frame_Del_p.K277del|GMPR2_uc010toe.1_In_Frame_Del_p.K277del	1,1,1				p.K277del	NM_001002001	NP_001002001			1,1,1	GMPR2_HUMAN	GMPR2	HGNC	Q9P2T1	GMPR2_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	Q86SZ5_HUMAN,H0YNS9_HUMAN,H0YL68_HUMAN		9	1207_1209	+			UPI000000CC1C	277					deletion	GMPR2,inframe_deletion,p.Lys295del,ENST00000557854,NM_001283022.1;GMPR2,inframe_deletion,p.Lys277del,ENST00000348719,;GMPR2,inframe_deletion,p.Lys277del,ENST00000355299,NM_001002000.1;GMPR2,inframe_deletion,p.Lys277del,ENST00000559836,NM_001002001.1;GMPR2,inframe_deletion,p.Lys295del,ENST00000420554,NM_016576.3;GMPR2,inframe_deletion,p.Lys262del,ENST00000559104,;GMPR2,inframe_deletion,p.Lys277del,ENST00000399440,NM_001002002.1;GMPR2,inframe_deletion,p.Lys244del,ENST00000559910,;GMPR2,inframe_deletion,p.Lys249del,ENST00000456667,NM_001283023.1;GMPR2,inframe_deletion,p.Lys137del,ENST00000558483,;GMPR2,inframe_deletion,p.Lys123del,ENST00000558865,;GMPR2,inframe_deletion,p.Lys45del,ENST00000558748,;GMPR2,inframe_deletion,p.Lys17del,ENST00000559479,;GMPR2,intron_variant,,ENST00000559943,;TINF2,downstream_gene_variant,,ENST00000399423,NM_012461.2;TINF2,downstream_gene_variant,,ENST00000558566,;TINF2,downstream_gene_variant,,ENST00000538777,;TINF2,downstream_gene_variant,,ENST00000267415,NM_001099274.1;TINF2,downstream_gene_variant,,ENST00000540705,;TINF2,downstream_gene_variant,,ENST00000559969,;TINF2,downstream_gene_variant,,ENST00000558476,;TINF2,downstream_gene_variant,,ENST00000559019,;GMPR2,downstream_gene_variant,,ENST00000561035,;TINF2,downstream_gene_variant,,ENST00000560019,;GMPR2,downstream_gene_variant,,ENST00000559409,;GMPR2,downstream_gene_variant,,ENST00000560139,;GMPR2,upstream_gene_variant,,ENST00000558788,;TINF2,downstream_gene_variant,,ENST00000557921,;GMPR2,downstream_gene_variant,,ENST00000558279,;GMPR2,upstream_gene_variant,,ENST00000558932,;GMPR2,downstream_gene_variant,,ENST00000560517,;TINF2,downstream_gene_variant,,ENST00000558510,;GMPR2,downstream_gene_variant,,ENST00000558701,;GMPR2,3_prime_UTR_variant,,ENST00000561038,NM_001283021.1;GMPR2,3_prime_UTR_variant,,ENST00000559287,;GMPR2,non_coding_transcript_exon_variant,,ENST00000558007,;GMPR2,downstream_gene_variant,,ENST00000561130,;GMPR2,downstream_gene_variant,,ENST00000558760,;GMPR2,downstream_gene_variant,,ENST00000559606,;GMPR2,downstream_gene_variant,,ENST00000559102,;TINF2,downstream_gene_variant,,ENST00000559549,;TINF2,downstream_gene_variant,,ENST00000559147,;TINF2,downstream_gene_variant,,ENST00000557830,;TINF2,downstream_gene_variant,,ENST00000557915,;TINF2,downstream_gene_variant,,ENST00000558703,;GMPR2,downstream_gene_variant,,ENST00000559801,;	uc001wnr.2	c.825_827delGAA	1286-1288/1972	5	5			c.825_827delGAA						14	DEL	c.(823-828)ATGAAG>ATG	13	13			ovary(3)	3	Broad	guanosine monophosphate reductase 2 isoform 2			24707581		0.537	ENSG00000100938	6379	g.chr14:24707579_24707581delGAA	nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			35			35														0.21	1	1	0	1	0	0	0	0	0	--	--		0	-			GMPR2_uc001wnv.2_In_Frame_Del_p.K114del|GMPR2_uc001wns.2_In_Frame_Del_p.K277del|GMPR2_uc001wnt.2_In_Frame_Del_p.K244del|GMPR2_uc001wnu.2_In_Frame_Del_p.K241del|GMPR2_uc001wnw.2_In_Frame_Del_p.K277del|GMPR2_uc010all.2_In_Frame_Del_p.K249del|GMPR2_uc001wnx.2_In_Frame_Del_p.K295del|GMPR2_uc010tod.1_In_Frame_Del_p.K244del|GMPR2_uc010alk.1_In_Frame_Del_p.K277del|GMPR2_uc010toe.1_In_Frame_Del_p.K277del	166	GBM-19-2629-TP	p.K277del	GAA	AAATGGCCATGAAGAAGTATGCT	NM_001002001	NP_001002001	24707579	Q9P2T1	GMPR2_HUMAN	0		GBM - Glioblastoma multiforme(265;0.0181)	9	1207_1209	+	-	-			In_Frame_Del	277						
GNA11	2767		GRCh37	19	3113330	3113330	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000078429.4:c.324C>T		p.X108_splice	ENST00000078429	NM_002067.2	108	gcC/gcT	0																																																																																																																																																																																																																																												
GNAO1	0	broad.mit.edu	GRCh37	16	56374784	56374784	+	intron_variant	Intron	SNP	C	C	G			TCGA-12-1597-01	TCGA-12-1597-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262493.6:c.723+4012C>G		*241*	ENST00000262493	NM_020988.2			0			1			G		uc002eit.3	protein_coding		CCDS10756.1			-/1065									lung(1)|breast(1)	2	c.(760-762)ATC>ATG				guanine nucleotide binding protein, alpha				ENSP00000262493											COSM3402371		.		ENST00000262493	Transcript	1		dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	ENSG00000087258	g.chr16:56374784C>G	4389			MODIFIER	8-Jun	3.965	high	getma.org/?cm=msa&ty=f&p=Q6AWC5_HUMAN&rb=1&re=113&var=I13M	getma.org/pdb.php?prot=Q6AWC5_HUMAN&from=1&to=113&var=I13M	getma.org/?cm=var&var=hg19,16,56374784,C,G&fts=all	I13M	--	--	1																																		GNAO1_uc002eiu.3_Intron	1				p.I254M	NM_138736	NP_620073			1	GNAO_HUMAN	GNAO1	HGNC	P09471	GNAO_HUMAN			Q8N6I9_HUMAN,H3BTM2_HUMAN,H3BQG8_HUMAN,H3BNR5_HUMAN		7	1659	+		all_neural(199;0.159)	UPI000004D206	254					SNV	GNAO1,missense_variant,p.Ile254Met,ENST00000262494,NM_138736.2;GNAO1,intron_variant,,ENST00000262493,NM_020988.2;GNAO1,intron_variant,,ENST00000568375,;GNAO1,non_coding_transcript_exon_variant,,ENST00000564798,;	uc002eit.3	c.762C>G	-/3281	3	3			c.762C>G						16	SNP	c.(760-762)ATC>ATG	63	63			lung(1)|breast(1)	2	Broad	guanine nucleotide binding protein, alpha			56374784		0.527	ENSG00000087258	6390	g.chr16:56374784C>G	dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity							723.534359	KEEP	106	105	-1	117	148	106	105	-1	724.805521	117	148	0.442697	1	0	0	0	0	1	0	0	0	--	--		0	G			GNAO1_uc002eiu.3_Intron	124	GBM-12-1597-TP	p.I254M	C	TTGACAGCATCTGCAACAACA	NM_138736	NP_620073	56374784	P09471	GNAO_HUMAN	0			7	1659	+	G	G		all_neural(199;0.159)	Missense_Mutation	254						
GNAT3	346562	broad.mit.edu	GRCh37	7	80088110	80088110	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0184-01	TCGA-06-0184-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398291.3:c.942del	p.Glu315LysfsTer9	p.E315Kfs*9	ENST00000398291	NM_001102386.1	314	aaA/aa	0			1			-	K/X	uc011kgu.1	protein_coding	YES	CCDS47625.1			942/1065									ovary(1)	1	c.(940-942)AAAfs			Superfamily_domains:SSF52540,SMART_domains:SM00275,Pfam_domain:PF00503,Gene3D:3.40.50.300,hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF66	guanine nucleotide binding protein, alpha				ENSP00000381339		8-Aug									COSM2150453,COSM2150454	8-Aug	.		ENST00000398291	Transcript			detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	ENSG00000214415	g.chr7:80088110delT	22800			HIGH								--	--	1																																		CD36_uc003uhc.2_Intron	1,1	1			p.K314fs	NM_001102386	NP_001095856			1,1	GNAT3_HUMAN	GNAT3	HGNC	A8MTJ3	GNAT3_HUMAN					8	942	-			UPI0000198E14	314					deletion	GNAT3,frameshift_variant,p.Glu315LysfsTer9,ENST00000398291,NM_001102386.1;CD36,intron_variant,,ENST00000435819,;	uc011kgu.1	c.942delA	1036/1159	5	5			c.942delA						7	DEL	c.(940-942)AAAfs	17	17			ovary(1)	1	Broad	guanine nucleotide binding protein, alpha			80088110		0.328	ENSG00000214415	6395	g.chr7:80088110delT	detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity																				0.25	1	1	0	1	0	0	0	0	0	--	--		0	-			CD36_uc003uhc.2_Intron	39	GBM-06-0184-TP	p.K314fs	T	CCTTATCTTCTTTTTTTAAAT	NM_001102386	NP_001095856	80088110	A8MTJ3	GNAT3_HUMAN	0			8	942	-	-	-			Frame_Shift_Del	314						
GNAT3	346562	broad.mit.edu	GRCh37	7	80091827	80091827	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2558-01	TCGA-06-2558-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398291.3:c.711C>T	p.Asp237=	p.D237=	ENST00000398291	NM_001102386.1	237	gaC/gaT	0			1			A	D	uc011kgu.1	protein_coding	YES	CCDS47625.1			711/1065									ovary(1)	1	c.(709-711)GAC>GAT			Prints_domain:PR00318,Superfamily_domains:SSF52540,SMART_domains:SM00275,Pfam_domain:PF00503,Gene3D:3.40.50.300,hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF66	guanine nucleotide binding protein, alpha				ENSP00000381339		8-Jun	1.65E-05			0.000116		1.50E-05			rs766464364,COSM3412320,COSM3412321	8-Jun	.		ENST00000398291	Transcript			detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	ENSG00000214415	g.chr7:80091827G>A	22800			LOW								--	--	1																																		CD36_uc003uhc.2_Intron	0,1,1	1			p.D237D	NM_001102386	NP_001095856			0,1,1	GNAT3_HUMAN	GNAT3	HGNC	A8MTJ3	GNAT3_HUMAN					6	711	-			UPI0000198E14	237					SNV	GNAT3,synonymous_variant,p.=,ENST00000398291,NM_001102386.1;CD36,intron_variant,,ENST00000435819,;	uc011kgu.1	c.711C>T	805/1159	1	1			c.711C>T						7	SNP	c.(709-711)GAC>GAT	61	61			ovary(1)	1	Broad	guanine nucleotide binding protein, alpha			80091827		0.408	ENSG00000214415	6395	g.chr7:80091827G>A	detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity							162.364275	KEEP	43	33	-1	112	104	43	33	-1	176.431444	112	104	0.25	1	0	0	0	0	0	0	1	0	--	--		0	A			CD36_uc003uhc.2_Intron	82	GBM-06-2558-TP	p.D237D	G	CCACTTCTTCGTCTTCCACGA	NM_001102386	NP_001095856	80091827	A8MTJ3	GNAT3_HUMAN	0			6	711	-	A	A			Silent	237						
GNAT3	0	broad.mit.edu	GRCh37	7	80117947	80117947	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-1834-01	TCGA-27-1834-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398291.3:c.207C>T	p.Phe69=	p.F69=	ENST00000398291	NM_001102386.1	69	ttC/ttT	0			1			A	F	uc011kgu.1	protein_coding	YES	CCDS47625.1			207/1065									ovary(1)	1	c.(205-207)TTC>TTT			Superfamily_domains:SSF47895,SMART_domains:SM00275,Pfam_domain:PF00503,Gene3D:1.10.400.10,hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF66	guanine nucleotide binding protein, alpha				ENSP00000381339		8-Mar									COSM3412322,COSM3412323	8-Mar	.		ENST00000398291	Transcript			detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	ENSG00000214415	g.chr7:80117947G>A	22800			LOW								--	--	1																																		CD36_uc003uhc.2_Intron	1,1	1			p.F69F	NM_001102386	NP_001095856			1,1	GNAT3_HUMAN	GNAT3	HGNC	A8MTJ3	GNAT3_HUMAN					3	207	-			UPI0000198E14	69					SNV	GNAT3,synonymous_variant,p.=,ENST00000398291,NM_001102386.1;CD36,intron_variant,,ENST00000435819,;	uc011kgu.1	c.207C>T	301/1159	1	1			c.207C>T						7	SNP	c.(205-207)TTC>TTT	57	57			ovary(1)	1	Broad	guanine nucleotide binding protein, alpha			80117947		0.338	ENSG00000214415	6395	g.chr7:80117947G>A	detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity							14.299184	KEEP	3	6	-1	20	17	3	6	-1	18.28537	20	17	0.175	1	0	0	0	0	0	0	1	0	--	--		0	A			CD36_uc003uhc.2_Intron	193	GBM-27-1834-TP	p.F69F	G	TTACTGCTTTGAACTCCATGC	NM_001102386	NP_001095856	80117947	A8MTJ3	GNAT3_HUMAN	0			3	207	-	A	A			Silent	69						
GNAT3	0	broad.mit.edu	GRCh37	7	80103615	80103615	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5204-01	TCGA-28-5204-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398291.3:c.542C>T	p.Thr181Met	p.T181M	ENST00000398291	NM_001102386.1	181	aCg/aTg	0			1			A	T/M	uc011kgu.1	protein_coding	YES	CCDS47625.1			542/1065									ovary(1)	1	c.(541-543)ACG>ATG			Prints_domain:PR00318,Superfamily_domains:SSF52540,Superfamily_domains:SSF47895,SMART_domains:SM00275,Pfam_domain:PF00503,Gene3D:3.40.50.300,hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF66	guanine nucleotide binding protein, alpha				ENSP00000381339		8-May	2.49E-05					3.58E-05		0.000103	rs775635099,COSM3029698,COSM3029699	8-May	.		ENST00000398291	Transcript			detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	ENSG00000214415	g.chr7:80103615G>A	22800			MODERATE		4.565	high	getma.org/?cm=msa&ty=f&p=GNAT3_HUMAN&rb=4&re=354&var=T181M	getma.org/pdb.php?prot=GNAT3_HUMAN&from=4&to=354&var=T181M	getma.org/?cm=var&var=hg19,7,80103615,G,A&fts=all	T181M	--	--	1																																		CD36_uc003uhc.2_Intron	0,1,1	1		probably_damaging(0.996)	p.T181M	NM_001102386	NP_001095856		deleterious(0)	0,1,1	GNAT3_HUMAN	GNAT3	HGNC	A8MTJ3	GNAT3_HUMAN					5	542	-			UPI0000198E14	181			GTP (By similarity).	Magnesium (By similarity).	SNV	GNAT3,missense_variant,p.Thr181Met,ENST00000398291,NM_001102386.1;CD36,intron_variant,,ENST00000435819,;	uc011kgu.1	c.542C>T	636/1159	2	2			c.542C>T						7	SNP	c.(541-543)ACG>ATG	42	42			ovary(1)	1	Broad	guanine nucleotide binding protein, alpha			80103615		0.343	ENSG00000214415	6395	g.chr7:80103615G>A	detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity							31.11821	KEEP	6	9	-1	30	17	6	9	-1	34.480491	30	17	0.245614	1	0	0	0	0	1	0	0	0	--	--		0	A			CD36_uc003uhc.2_Intron	215	GBM-28-5204-TP	p.T181M	G	GATTCCAGTCGTTTTCACTCG	NM_001102386	NP_001095856	80103615	A8MTJ3	GNAT3_HUMAN	0			5	542	-	A	A			Missense_Mutation	181			GTP (By similarity).	Magnesium (By similarity).		
GNAT3	0	broad.mit.edu	GRCh37	7	80088106	80088106	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398291.3:c.946G>A	p.Asp316Asn	p.D316N	ENST00000398291	NM_001102386.1	316	Gat/Aat	0			1			T	D/N	uc011kgu.1	protein_coding	YES	CCDS47625.1			946/1065									ovary(1)	1	c.(946-948)GAT>AAT			Superfamily_domains:SSF52540,SMART_domains:SM00275,Pfam_domain:PF00503,Gene3D:3.40.50.300,hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF66	guanine nucleotide binding protein, alpha				ENSP00000381339		8-Aug									COSM3412316,COSM3412317	8-Aug	.		ENST00000398291	Transcript			detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	ENSG00000214415	g.chr7:80088106C>T	22800			MODERATE		-0.43	neutral	getma.org/?cm=msa&ty=f&p=GNAT3_HUMAN&rb=4&re=354&var=D316N	getma.org/pdb.php?prot=GNAT3_HUMAN&from=4&to=354&var=D316N	getma.org/?cm=var&var=hg19,7,80088106,C,T&fts=all	D316N	--	--	1																																		CD36_uc003uhc.2_Intron	1,1	1		possibly_damaging(0.493)	p.D316N	NM_001102386	NP_001095856		tolerated(0.44)	1,1	GNAT3_HUMAN	GNAT3	HGNC	A8MTJ3	GNAT3_HUMAN					8	946	-			UPI0000198E14	316					SNV	GNAT3,missense_variant,p.Asp316Asn,ENST00000398291,NM_001102386.1;CD36,intron_variant,,ENST00000435819,;	uc011kgu.1	c.946G>A	1040/1159	2	2			c.946G>A						7	SNP	c.(946-948)GAT>AAT	40	40			ovary(1)	1	Broad	guanine nucleotide binding protein, alpha			80088106		0.323	ENSG00000214415	6395	g.chr7:80088106C>T	detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity							12.388513	KEEP	5	4	-1	22	24	5	4	-1	18.647633	22	24	0.14	1	0	0	0	0	1	0	0	0	--	--		0	T			CD36_uc003uhc.2_Intron	246	GBM-32-4211-TP	p.D316N	C	ATTTCCTTATCTTCTTTTTTT	NM_001102386	NP_001095856	80088106	A8MTJ3	GNAT3_HUMAN	0			8	946	-	T	T			Missense_Mutation	316						
GNAT3	0	broad.mit.edu	GRCh37	7	80091548	80091548	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-4925-01	TCGA-76-4925-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398291.3:c.801C>G	p.Phe267Leu	p.F267L	ENST00000398291	NM_001102386.1	267	ttC/ttG	0			1			C	F/L	uc011kgu.1	protein_coding	YES	CCDS47625.1			801/1065									ovary(1)	1	c.(799-801)TTC>TTG			Prints_domain:PR00318,Superfamily_domains:SSF52540,SMART_domains:SM00275,Pfam_domain:PF00503,Gene3D:3.40.50.300,hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF66	guanine nucleotide binding protein, alpha				ENSP00000381339		8-Jul									COSM3412318,COSM3412319	8-Jul	.		ENST00000398291	Transcript			detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	ENSG00000214415	g.chr7:80091548G>C	22800			MODERATE		2.89	medium	getma.org/?cm=msa&ty=f&p=GNAT3_HUMAN&rb=4&re=354&var=F267L	getma.org/pdb.php?prot=GNAT3_HUMAN&from=4&to=354&var=F267L	getma.org/?cm=var&var=hg19,7,80091548,G,C&fts=all	F267L	--	--	1																																		CD36_uc003uhc.2_Intron	1,1	1		benign(0.38)	p.F267L	NM_001102386	NP_001095856		deleterious(0.01)	1,1	GNAT3_HUMAN	GNAT3	HGNC	A8MTJ3	GNAT3_HUMAN					7	801	-			UPI0000198E14	267					SNV	GNAT3,missense_variant,p.Phe267Leu,ENST00000398291,NM_001102386.1;CD36,intron_variant,,ENST00000435819,;	uc011kgu.1	c.801C>G	895/1159	3	3			c.801C>G						7	SNP	c.(799-801)TTC>TTG	56	56			ovary(1)	1	Broad	guanine nucleotide binding protein, alpha			80091548		0.343	ENSG00000214415	6395	g.chr7:80091548G>C	detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity							57.356403	KEEP	8	9	-1	24	15	8	9	-1	59.003371	24	15	0.314815	1	0	0	0	0	1	0	0	0	--	--		0	C			CD36_uc003uhc.2_Intron	265	GBM-76-4925-TP	p.F267L	G	TTTTGTTGAGGAACAGGACAA	NM_001102386	NP_001095856	80091548	A8MTJ3	GNAT3_HUMAN	0			7	801	-	C	C			Missense_Mutation	267						
GNB1L	54584	broad.mit.edu	GRCh37	22	19799872	19799872	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329517.6:c.353G>A	p.Ser118Asn	p.S118N	ENST00000329517	NM_053004.2	118	aGc/aAc	0			1			T	S/N	uc002zqe.1	protein_coding	YES	CCDS13768.1			353/984									breast(1)	1	c.(352-354)AGC>AAC			hmmpanther:PTHR19854	guanine nucleotide binding protein				ENSP00000331313		8-May									COSM2151848,COSM3405512	8-May	.		ENST00000329517	Transcript			G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular		ENSG00000185838	g.chr22:19799872C>T	4397			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=GNB1L_HUMAN&rb=54&re=232&var=S118N	getma.org/pdb.php?prot=GNB1L_HUMAN&from=54&to=232&var=S118N	getma.org/?cm=var&var=hg19,22,19799872,C,T&fts=all	S118N	--	--	1																																		GNB1L_uc002zqd.1_5'UTR|GNB1L_uc002zqf.1_Missense_Mutation_p.S118N	1,1	1		benign(0.093)	p.S118N	NM_053004	NP_443730		tolerated(0.06)	1,1	GNB1L_HUMAN	GNB1L	HGNC	Q9BYB4	GNB1L_HUMAN					4	747	-	Colorectal(54;0.0993)		UPI00000474FA	118					SNV	GNB1L,missense_variant,p.Ser118Asn,ENST00000329517,NM_053004.2;GNB1L,missense_variant,p.Ser118Asn,ENST00000403325,;GNB1L,missense_variant,p.Ser118Asn,ENST00000405009,;GNB1L,missense_variant,p.Ser76Asn,ENST00000453108,;GNB1L,non_coding_transcript_exon_variant,,ENST00000460402,;GNB1L,non_coding_transcript_exon_variant,,ENST00000481086,;	uc002zqe.1	c.353G>A	590/6706	2	2			c.353G>A						22	SNP	c.(352-354)AGC>AAC	45	45			breast(1)	1	Broad	guanine nucleotide binding protein			19799872		0.692	ENSG00000185838	6398	g.chr22:19799872C>T	G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular								101.573727	KEEP	21	21	-1	13	15	21	21	-1	101.812986	13	15	0.568966	1	0	0	0	0	1	0	0	0	--	--		0	T			GNB1L_uc002zqd.1_5'UTR|GNB1L_uc002zqf.1_Missense_Mutation_p.S118N	68	GBM-06-0747-TP	p.S118N	C	CAGGATGCTGCTCCGGCAGAA	NM_053004	NP_443730	19799872	Q9BYB4	GNB1L_HUMAN	0			4	747	-	T	T	Colorectal(54;0.0993)		Missense_Mutation	118						
GNB1L	0	broad.mit.edu	GRCh37	22	19794193	19794193	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-26-1439-01	TCGA-26-1439-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329517.6:c.505C>G	p.Arg169Gly	p.R169G	ENST00000329517	NM_053004.2	169	Cgg/Ggg	0			1			C	R/G	uc002zqe.1	protein_coding	YES	CCDS13768.1			505/984									breast(1)	1	c.(505-507)CGG>GGG			Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR19854	guanine nucleotide binding protein				ENSP00000331313		8-Jun									COSM3748164,COSM3748165	8-Jun	.		ENST00000329517	Transcript			G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular		ENSG00000185838	g.chr22:19794193G>C	4397			MODERATE		-0.55	neutral	getma.org/?cm=msa&ty=f&p=GNB1L_HUMAN&rb=54&re=232&var=R169G	getma.org/pdb.php?prot=GNB1L_HUMAN&from=54&to=232&var=R169G	getma.org/?cm=var&var=hg19,22,19794193,G,C&fts=all	R169G	--	--	1																																		GNB1L_uc002zqd.1_Missense_Mutation_p.R25G|GNB1L_uc002zqf.1_Missense_Mutation_p.R169G	1,1	1		benign(0.002)	p.R169G	NM_053004	NP_443730		tolerated(0.22)	1,1	GNB1L_HUMAN	GNB1L	HGNC	Q9BYB4	GNB1L_HUMAN					5	899	-	Colorectal(54;0.0993)		UPI00000474FA	169			WD 3.		SNV	GNB1L,missense_variant,p.Arg169Gly,ENST00000329517,NM_053004.2;GNB1L,missense_variant,p.Arg169Gly,ENST00000403325,;GNB1L,missense_variant,p.Arg169Gly,ENST00000405009,;GNB1L,non_coding_transcript_exon_variant,,ENST00000460402,;GNB1L,non_coding_transcript_exon_variant,,ENST00000481086,;	uc002zqe.1	c.505C>G	742/6706	4	4			c.505C>G						22	SNP	c.(505-507)CGG>GGG	48	48			breast(1)	1	Broad	guanine nucleotide binding protein			19794193		0.607	ENSG00000185838	6398	g.chr22:19794193G>C	G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular								0.024116	KEEP	2	0	-1	21	19	2	0	-1	6.678005	21	19	0.060606	1	0	0	0	0	1	0	0	0	--	--		0	C			GNB1L_uc002zqd.1_Missense_Mutation_p.R25G|GNB1L_uc002zqf.1_Missense_Mutation_p.R169G	179	GBM-26-1439-TP	p.R169G	G	TGCCACAGCCGCAGGCACATG	NM_053004	NP_443730	19794193	Q9BYB4	GNB1L_HUMAN	0			5	899	-	C	C	Colorectal(54;0.0993)		Missense_Mutation	169			WD 3.			
GNB4	0	broad.mit.edu	GRCh37	3	179137188	179137189	+	frameshift_variant,splice_region_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-12-0619-01	TCGA-12-0619-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000232564.3:c.201dupC	p.Arg68GlnfsTer17	p.R68Qfs*17	ENST00000232564	NM_021629.3	67	-/C	0			1			G	-/X	uc003fjv.3	protein_coding	YES	CCDS3230.1			201-202/1023									skin(2)	2	c.(199-204)TCCAGGfs			PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR19850:SF28,hmmpanther:PTHR19850,Pfam_domain:PF00400,Gene3D:2.130.10.10,PIRSF_domain:PIRSF002394,SMART_domains:SM00320,Superfamily_domains:SSF50978	guanine nucleotide-binding protein, beta-4				ENSP00000232564		10-Apr										10-Apr	.		ENST00000232564	Transcript	1		cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity	ENSG00000114450	g.chr3:179137188_179137189insG	20731			HIGH								--	--	1																																		GNB4_uc003fju.3_5'Flank		1			p.S67fs	NM_021629	NP_067642				GBB4_HUMAN	GNB4	HGNC	Q9HAV0	GBB4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)		C9JD14_HUMAN,B4DLV5_HUMAN		4	481_482	-	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		UPI000012B21A	67_68			WD 1.		insertion	GNB4,frameshift_variant,p.Arg68GlnfsTer17,ENST00000232564,NM_021629.3;GNB4,frameshift_variant,p.Arg68GlnfsTer17,ENST00000468623,;GNB4,frameshift_variant,p.Arg68GlnfsTer?,ENST00000497513,;GNB4,upstream_gene_variant,,ENST00000466899,;	uc003fjv.3	c.201_202insC	488-489/3321	5	5			c.201_202insC						3	INS	c.(199-204)TCCAGGfs	64	64			skin(2)	2	Broad	guanine nucleotide-binding protein, beta-4			179137189		0.361	ENSG00000114450	6402	g.chr3:179137188_179137189insG	cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity	Melanoma(105;1405 1491 7265 20440 33721)			Melanoma(105;1405 1491 7265 20440 33721)																0.38	1	0	0	1	1	0	0	0	0	--	--		0	G			GNB4_uc003fju.3_5'Flank	120	GBM-12-0619-TP	p.S67fs	-	GGTACAAACCTGGAATCGTATC	NM_021629	NP_067642	179137188	Q9HAV0	GBB4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)		4	481_482	-	G	G	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		Frame_Shift_Ins	67_68			WD 1.			
GNG2	54331	broad.mit.edu	GRCh37	14	52433353	52433353	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs139067662	by1000genomes	TCGA-06-0209-01	TCGA-06-0209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335281.4:c.164C>T	p.Pro55Leu	p.P55L	ENST00000335281	NM_001243774.1	55	cCg/cTg	0		T:0	1	T:0		T	P/L	uc001wzi.2	protein_coding	YES	CCDS32082.1			164/216										0	c.(163-165)CCG>CTG			PROSITE_profiles:PS50058,hmmpanther:PTHR13809,hmmpanther:PTHR13809:SF25,Gene3D:4.10.260.10,Pfam_domain:PF00631,SMART_domains:SM00224,Superfamily_domains:SSF48670,Prints_domain:PR00321	guanine nucleotide binding protein (G protein),	Halothane(DB01159)	T:0		ENSP00000334448	T:0.001	3-Mar	3.29E-05		8.64E-05			4.50E-05			rs139067662,COSM123400	3-Mar	.		ENST00000335281	Transcript		T:0.0002	cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity	ENSG00000186469	g.chr14:52433353C>T	4404			MODERATE								--	--	1																																		GNG2_uc001wzh.2_RNA|GNG2_uc010aoc.1_RNA|GNG2_uc001wzj.2_RNA|GNG2_uc001wzk.2_Missense_Mutation_p.P55L	0,1	1		probably_damaging(1)	p.P55L	NM_053064	NP_444292	T:0	deleterious(0.02)	0,1	GBG2_HUMAN	GNG2	HGNC	P59768	GBG2_HUMAN					4	693	+	all_epithelial(31;0.0659)|Breast(41;0.0684)		UPI0000001245	55					SNV	GNG2,missense_variant,p.Pro55Leu,ENST00000335281,NM_001243774.1;GNG2,missense_variant,p.Pro55Leu,ENST00000556752,NM_001243773.1,NM_053064.4;GNG2,missense_variant,p.Pro55Leu,ENST00000556766,;GNG2,missense_variant,p.Pro55Leu,ENST00000555472,;GNG2,missense_variant,p.Pro86Leu,ENST00000553432,;GNG2,missense_variant,p.Pro94Leu,ENST00000557376,;GNG2,missense_variant,p.Pro55Leu,ENST00000554736,;GNG2,intron_variant,,ENST00000553560,;AL358333.1,downstream_gene_variant,,ENST00000597846,;RP11-463J10.3,downstream_gene_variant,,ENST00000553603,;GNG2,non_coding_transcript_exon_variant,,ENST00000553299,;GNG2,intron_variant,,ENST00000554840,;GNG2,3_prime_UTR_variant,,ENST00000556522,;	uc001wzi.2	c.164C>T	570/3729	1	1			c.164C>T						14	SNP	c.(163-165)CCG>CTG	14	14				0	Broad	guanine nucleotide binding protein (G protein),		Halothane(DB01159)	52433353		0.527	ENSG00000186469	6409	g.chr14:52433353C>T	cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity							173.876219	KEEP	35	34	-1	115	101	35	34	-1	189.482449	115	101	0.244275	1	0	0	0	0	1	0	0	0	--	--		0	T			GNG2_uc001wzh.2_RNA|GNG2_uc010aoc.1_RNA|GNG2_uc001wzj.2_RNA|GNG2_uc001wzk.2_Missense_Mutation_p.P55L	46	GBM-06-0209-TP	p.P55L	C	ACCCCTGTTCCGGCTTCAGAA	NM_053064	NP_444292	52433353	P59768	GBG2_HUMAN	0			4	693	+	T	T	all_epithelial(31;0.0659)|Breast(41;0.0684)		Missense_Mutation	55						
GNG5	2787	broad.mit.edu	GRCh37	1	84967630	84967630	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-5856-01	TCGA-06-5856-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370641.3:c.105G>T	p.Leu35Phe	p.L35F	ENST00000370641		35	ttG/ttT	0			1			A	L/F	uc001djw.3	protein_coding	YES	CCDS696.1			105/207										0	c.(103-105)TTG>TTT			Prints_domain:PR00321,Superfamily_domains:SSF48670,SMART_domains:SM00224,Gene3D:4.10.260.10,Pfam_domain:PF00631,hmmpanther:PTHR13809,hmmpanther:PTHR13809:SF24,PROSITE_profiles:PS50058	guanine nucleotide binding protein (G protein),				ENSP00000359675		3-Feb									COSM3401041	3-Feb	.		ENST00000370641	Transcript			cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity	ENSG00000174021	g.chr1:84967630C>A	4408			MODERATE								--	--	1																																			1	1		possibly_damaging(0.469)	p.L35F	NM_005274	NP_005265		deleterious(0.02)	1	GBG5_HUMAN	GNG5	HGNC	P63218	GBG5_HUMAN		all cancers(265;0.00634)|Epithelial(280;0.0175)|OV - Ovarian serous cystadenocarcinoma(397;0.159)			3	459	-			UPI000002514C	35					SNV	GNG5,missense_variant,p.Leu35Phe,ENST00000370641,;GNG5,missense_variant,p.Leu35Phe,ENST00000370645,NM_005274.2;RPF1,downstream_gene_variant,,ENST00000370654,NM_025065.6;GNG5,non_coding_transcript_exon_variant,,ENST00000487806,;SPATA1,upstream_gene_variant,,ENST00000370638,;SPATA1,upstream_gene_variant,,ENST00000490879,;SPATA1,upstream_gene_variant,,ENST00000431031,;SPATA1,upstream_gene_variant,,ENST00000484939,;SPATA1,upstream_gene_variant,,ENST00000468437,;SPATA1,upstream_gene_variant,,ENST00000263717,;	uc001djw.3	c.105G>T	579/920	1	1			c.105G>T						1	SNP	c.(103-105)TTG>TTT	51	51				0	Broad	guanine nucleotide binding protein (G protein),			84967630		0.433	ENSG00000174021	6412	g.chr1:84967630C>A	cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity							11.352882	KEEP	8	4	0.333333333	32	30	8	4	0.333333333	20.14732	32	30	0.125	1	0	0	0	0	1	0	0	0	--	--		0	A				101	GBM-06-5856-TP	p.L35F	C	AGAACTGTTTCAAGTCTGCAG	NM_005274	NP_005265	84967630	P63218	GBG5_HUMAN	0		all cancers(265;0.00634)|Epithelial(280;0.0175)|OV - Ovarian serous cystadenocarcinoma(397;0.159)	3	459	-	A	A			Missense_Mutation	35						
GNGT2	0	broad.mit.edu	GRCh37	17	47284162	47284162	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-27-2521-01	TCGA-27-2521-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300406.2:c.167A>G	p.Asp56Gly	p.D56G	ENST00000300406	NM_001198755.1	56	gAc/gGc	0			1			C	D/G	uc002ioo.1	protein_coding		CCDS11545.1			167/210										0	c.(166-168)GAC>GGC			Gene3D:4.10.260.10,Pfam_domain:PF00631,Prints_domain:PR00321,PROSITE_profiles:PS50058,hmmpanther:PTHR13809,hmmpanther:PTHR13809:SF22,SMART_domains:SM00224,Superfamily_domains:SSF48670	guanine nucleotide binding protein-gamma				ENSP00000300406		4-Apr									COSM3402982	4-Apr	.		ENST00000300406	Transcript			G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity	ENSG00000167083	g.chr17:47284162T>C	4412			MODERATE								--	--	1																																			1			possibly_damaging(0.897)	p.D56G	NM_031498	NP_113686		deleterious(0.04)	1	GBGT2_HUMAN	GNGT2	HGNC	O14610	GBGT2_HUMAN	Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)				4	474	-			UPI000012B236	56					SNV	GNGT2,missense_variant,p.Asp56Gly,ENST00000511277,NM_001198756.1;GNGT2,missense_variant,p.Asp56Gly,ENST00000300406,NM_001198755.1,NM_031498.2;GNGT2,missense_variant,p.Asp56Gly,ENST00000515635,;GNGT2,missense_variant,p.Asp56Gly,ENST00000507680,NM_001198754.1;GNGT2,missense_variant,p.Asp56Gly,ENST00000503070,;GNGT2,missense_variant,p.Asp56Gly,ENST00000511673,;ABI3,upstream_gene_variant,,ENST00000225941,NM_016428.2,NM_001135186.1;ABI3,upstream_gene_variant,,ENST00000419580,;	uc002ioo.1	c.167A>G	478/889	3	3			c.167A>G						17	SNP	c.(166-168)GAC>GGC	61	61				0	Broad	guanine nucleotide binding protein-gamma			47284162		0.507	ENSG00000167083	6416	g.chr17:47284162T>C	G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity							17.879809	KEEP	13	9	-1	99	82	13	9	-1	47.26334	99	82	0.102151	1	0	0	0	0	1	0	0	0	--	--		0	C				200	GBM-27-2521-TP	p.D56G	T	GGGATTCTTGTCCTCAGGGAT	NM_031498	NP_113686	47284162	O14610	GBGT2_HUMAN	0	Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)		4	474	-	C	C			Missense_Mutation	56						
GNL2	29889	broad.mit.edu	GRCh37	1	38049466	38049466	+	splice_donor_variant	Splice_Site	DEL	A	A	-			TCGA-06-0173-01	TCGA-06-0173-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373062.3:c.636+2del		p.X212_splice	ENST00000373062	NM_013285.2	212		0			1			-		uc001cbk.2	protein_coding	YES	CCDS421.1			636/2196									ovary(1)|central_nervous_system(1)	2	c.e6+1				guanine nucleotide binding protein-like 2				ENSP00000362153													.		ENST00000373062	Transcript			ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding	ENSG00000134697	g.chr1:38049466delA	29925			HIGH	15-Jun							--	--	1																																		GNL2_uc010oif.1_Splice_Site_p.K53_splice|GNL2_uc009vve.2_3'UTR		1			p.K212_splice	NM_013285	NP_037417				NOG2_HUMAN	GNL2	HGNC	Q13823	NOG2_HUMAN			Q5T0F3_HUMAN		6	799	-		Myeloproliferative disorder(586;0.0393)	UPI0000000C9E						deletion	GNL2,splice_donor_variant,,ENST00000373062,NM_013285.2;GNL2,upstream_gene_variant,,ENST00000538069,;GNL2,upstream_gene_variant,,ENST00000489146,;GNL2,upstream_gene_variant,,ENST00000469191,;	uc001cbk.2	c.636_splice	-/2334	5	5			c.636_splice						1	DEL	c.e6+1	9	9			ovary(1)|central_nervous_system(1)	2	Broad	guanine nucleotide binding protein-like 2			38049466		0.383	ENSG00000134697	6418	g.chr1:38049466delA	ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding																				0.1	1	1	0	1	0	0	0	0	1	--	--		0	-			GNL2_uc010oif.1_Splice_Site_p.K53_splice|GNL2_uc009vve.2_3'UTR	36	GBM-06-0173-TP	p.K212_splice	A	TAGGAGTCTTACCTTGTAGAG	NM_013285	NP_037417	38049466	Q13823	NOG2_HUMAN	0			6	799	-	-	-		Myeloproliferative disorder(586;0.0393)	Splice_Site							
GNPAT	8443	broad.mit.edu	GRCh37	1	231401503	231401503	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366647.4:c.742C>T	p.Arg248Cys	p.R248C	ENST00000366647	NM_014236.3	248	Cgc/Tgc	0			1			T	R/C	uc001hup.3	protein_coding	YES	CCDS1592.1			742/2043									ovary(3)|breast(1)	4	c.(742-744)CGC>TGC			Superfamily_domains:0039877,PIRSF_domain:PIRSF000437,PIRSF_domain:PIRSF500063,SMART_domains:SM00563,Pfam_domain:PF01553,Gene3D:1iuqA02,hmmpanther:PTHR12563:SF9,hmmpanther:PTHR12563	glyceronephosphate O-acyltransferase				ENSP00000355607		16-Jun									COSM3400460	16-Jun	.		ENST00000366647	Transcript	1		ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	ENSG00000116906	g.chr1:231401503C>T	4416			MODERATE		3.505	high	getma.org/?cm=msa&ty=f&p=GNPAT_HUMAN&rb=138&re=283&var=R248C	NA	getma.org/?cm=var&var=hg19,1,231401503,C,T&fts=all	R248C	--	--	1																																		GNPAT_uc009xfo.1_Missense_Mutation_p.R139C|GNPAT_uc009xfp.2_Missense_Mutation_p.R187C	1	1		probably_damaging(0.982)	p.R248C	NM_014236	NP_055051		deleterious(0)	1	GNPAT_HUMAN	GNPAT	HGNC	O15228	GNPAT_HUMAN			Q71V38_HUMAN		6	948	+	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	UPI0000000A2A	248					SNV	GNPAT,missense_variant,p.Arg248Cys,ENST00000366647,NM_014236.3;GNPAT,missense_variant,p.Arg187Cys,ENST00000366646,;GNPAT,missense_variant,p.Arg238Cys,ENST00000416000,;GNPAT,missense_variant,p.Arg187Cys,ENST00000436239,;GNPAT,upstream_gene_variant,,ENST00000492459,;	uc001hup.3	c.742C>T	911/2643	2	2			c.742C>T						1	SNP	c.(742-744)CGC>TGC	46	46			ovary(3)|breast(1)	4	Broad	glyceronephosphate O-acyltransferase			231401503		0.378	ENSG00000116906	6423	g.chr1:231401503C>T	ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity							242.235152	KEEP	30	46	-1	10	15	30	46	-1	247.588277	10	15	0.755556	1	0	0	0	0	1	0	0	0	--	--		0	T			GNPAT_uc009xfo.1_Missense_Mutation_p.R139C|GNPAT_uc009xfp.2_Missense_Mutation_p.R187C	102	GBM-06-5858-TP	p.R248C	C	GACAAGAAGCCGCTCTGCCAA	NM_014236	NP_055051	231401503	O15228	GNPAT_HUMAN	0			6	948	+	T	T	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	Missense_Mutation	248						
GNPDA1	10007	broad.mit.edu	GRCh37	5	141385836	141385838	+	inframe_deletion	In_Frame_Del	DEL	GAA	GAA	-			TCGA-06-0747-01	TCGA-06-0747-01	GAA	GAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000508177.1:c.280_282del	p.Phe94del	p.F94del	ENST00000508177		94	TTC/-	0			1			-	F/-	uc003lmf.3	protein_coding		CCDS4272.1			280-282/870										0	c.(280-282)TTCdel			HAMAP:MF_01241,hmmpanther:PTHR11280,hmmpanther:PTHR11280:SF3,TIGRFAM_domain:TIGR00502,Gene3D:3.40.50.1360,Pfam_domain:PF01182,Superfamily_domains:SSF100950	glucosamine-6-phosphate deaminase 1				ENSP00000311876		7-Apr									COSM2151823	7-Apr	.		ENST00000311337	Transcript			generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity	ENSG00000113552	g.chr5:141385836_141385838delGAA	4417			MODERATE								--	--	1																																		GNPDA1_uc003lmg.3_In_Frame_Del_p.F94del|GNPDA1_uc010jgh.2_In_Frame_Del_p.F94del|GNPDA1_uc003lmh.3_In_Frame_Del_p.F60del	1				p.F94del	NM_005471	NP_005462			1	GNPI1_HUMAN	GNPDA1	HGNC	P46926	GNPI1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		D6RFK5_HUMAN,D6RB13_HUMAN,D6R917_HUMAN		3	1039_1041	-		all_hematologic(541;0.118)	UPI000004D014	94					deletion	GNPDA1,inframe_deletion,p.Phe94del,ENST00000508177,;GNPDA1,inframe_deletion,p.Phe94del,ENST00000503794,;GNPDA1,inframe_deletion,p.Phe94del,ENST00000500692,;GNPDA1,inframe_deletion,p.Phe94del,ENST00000311337,NM_005471.4;GNPDA1,inframe_deletion,p.Phe60del,ENST00000458112,;GNPDA1,inframe_deletion,p.Phe94del,ENST00000513454,;GNPDA1,inframe_deletion,p.Phe115del,ENST00000505689,;GNPDA1,inframe_deletion,p.Phe94del,ENST00000504139,;GNPDA1,inframe_deletion,p.Phe94del,ENST00000510194,;GNPDA1,inframe_deletion,p.Phe94del,ENST00000503229,;GNPDA1,intron_variant,,ENST00000542860,;GNPDA1,non_coding_transcript_exon_variant,,ENST00000507107,;GNPDA1,non_coding_transcript_exon_variant,,ENST00000507559,;GNPDA1,upstream_gene_variant,,ENST00000515747,;	uc003lmf.3	c.280_282delTTC	323-325/2273	5	5			c.280_282delTTC						5	DEL	c.(280-282)TTCdel	63	63				0	Broad	glucosamine-6-phosphate deaminase 1			141385838		0.527	ENSG00000113552	6424	g.chr5:141385836_141385838delGAA	generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity																				0.35	1	1	0	1	0	0	0	0	0	--	--		0	-			GNPDA1_uc003lmg.3_In_Frame_Del_p.F94del|GNPDA1_uc010jgh.2_In_Frame_Del_p.F94del|GNPDA1_uc003lmh.3_In_Frame_Del_p.F60del	68	GBM-06-0747-TP	p.F94del	GAA	CAATGTGCTTGAAGAAGTTGTTC	NM_005471	NP_005462	141385836	P46926	GNPI1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	1039_1041	-	-	-		all_hematologic(541;0.118)	In_Frame_Del	94						
GNPTG	84572	broad.mit.edu	GRCh37	16	1412529	1412529	+	synonymous_variant	Silent	SNP	C	C	T	rs146171435	byFrequency	TCGA-02-0003-01	TCGA-02-0003-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000204679.4:c.603C>T	p.Thr201=	p.T201=	ENST00000204679	NM_032520.4	201	acC/acT	0	T:0.0009	T:0.0045	1	T:0		T	T	uc002clm.2	protein_coding	YES	CCDS10436.1			603/918									central_nervous_system(1)	1	c.(601-603)ACC>ACT			hmmpanther:PTHR12630,hmmpanther:PTHR12630:SF6	N-acetylglucosamine-1-phosphotransferase, gamma		T:0	T:0	ENSP00000204679	T:0	11-Aug	0.000124	0.00127	8.67E-05			1.51E-05			rs146171435,COSM2148936	11-Aug	common_variant		ENST00000204679	Transcript	1	T:0.0012		extracellular region|Golgi apparatus	protein binding	ENSG00000090581	g.chr16:1412529C>T	23026			LOW								--	--	1																																			0,1	1			p.T201T	NM_032520	NP_115909	T:0		0,1	GNPTG_HUMAN	GNPTG	HGNC	Q9UJJ9	GNPTG_HUMAN			Q96RZ2_HUMAN		8	638	+		Hepatocellular(780;0.0893)	UPI0000073F3C	201					SNV	GNPTG,synonymous_variant,p.=,ENST00000204679,NM_032520.4;UNKL,downstream_gene_variant,,ENST00000389221,NM_001193388.3;UNKL,downstream_gene_variant,,ENST00000248104,NM_001276414.1;UNKL,downstream_gene_variant,,ENST00000403703,;UNKL,downstream_gene_variant,,ENST00000391893,;UNKL,downstream_gene_variant,,ENST00000508903,;UNKL,downstream_gene_variant,,ENST00000397464,NM_001193389.1;UNKL,downstream_gene_variant,,ENST00000402641,;GNPTG,downstream_gene_variant,,ENST00000529110,;LA16c-316G12.2,upstream_gene_variant,,ENST00000569831,;UNKL,downstream_gene_variant,,ENST00000562537,;GNPTG,non_coding_transcript_exon_variant,,ENST00000527076,;GNPTG,non_coding_transcript_exon_variant,,ENST00000527168,;GNPTG,non_coding_transcript_exon_variant,,ENST00000529957,;UNKL,downstream_gene_variant,,ENST00000511095,;GNPTG,downstream_gene_variant,,ENST00000526820,;GNPTG,downstream_gene_variant,,ENST00000527876,;GNPTG,downstream_gene_variant,,ENST00000534197,;	uc002clm.2	c.603C>T	646/1221	1	1			c.603C>T						16	SNP	c.(601-603)ACC>ACT	7	7			central_nervous_system(1)	1	Broad	N-acetylglucosamine-1-phosphotransferase, gamma			1412529		0.667	ENSG00000090581	6428	g.chr16:1412529C>T		extracellular region|Golgi apparatus	protein binding							160.447347	KEEP	24	28	-1	28	22	24	28	-1	160.531253	28	22	0.53125	1	0	0	0	0	0	0	1	0	--	--		0	T				1	GBM-02-0003-TP	p.T201T	C	AGCTGATCACCCCCCAGGTAA	NM_032520	NP_115909	1412529	Q9UJJ9	GNPTG_HUMAN	0			8	638	+	T	T		Hepatocellular(780;0.0893)	Silent	201						
GNPTG	0	broad.mit.edu	GRCh37	16	1412483	1412483	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs139997459		TCGA-19-5959-01	TCGA-19-5959-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000204679.4:c.557G>A	p.Arg186Gln	p.R186Q	ENST00000204679	NM_032520.4	186	cGg/cAg	0	C:0.0002	A:0	1	A:0.0014		A	R/Q	uc002clm.2	protein_coding	YES	CCDS10436.1			557/918									central_nervous_system(1)	1	c.(556-558)CGG>CAG			hmmpanther:PTHR12630,hmmpanther:PTHR12630:SF6	N-acetylglucosamine-1-phosphotransferase, gamma		A:0	C:0	ENSP00000204679	A:0	11-Aug	7.41E-05	0.000296	8.67E-05			4.56E-05		0.000121	rs139997459,COSM3402081	11-Aug	.		ENST00000204679	Transcript	1	A:0.0002		extracellular region|Golgi apparatus	protein binding	ENSG00000090581	g.chr16:1412483G>A	23026			MODERATE		-1.175	neutral	getma.org/?cm=msa&ty=f&p=GNPTG_HUMAN&rb=48&re=211&var=R186Q	NA	getma.org/?cm=var&var=hg19,16,1412483,G,A&fts=all	R186Q	--	--	1																																			0,1	1		benign(0.01)	p.R186Q	NM_032520	NP_115909	A:0	tolerated(1)	0,1	GNPTG_HUMAN	GNPTG	HGNC	Q9UJJ9	GNPTG_HUMAN			Q96RZ2_HUMAN		8	592	+		Hepatocellular(780;0.0893)	UPI0000073F3C	186					SNV	GNPTG,missense_variant,p.Arg186Gln,ENST00000204679,NM_032520.4;UNKL,downstream_gene_variant,,ENST00000389221,NM_001193388.3;UNKL,downstream_gene_variant,,ENST00000248104,NM_001276414.1;UNKL,downstream_gene_variant,,ENST00000403703,;UNKL,downstream_gene_variant,,ENST00000391893,;UNKL,downstream_gene_variant,,ENST00000508903,;UNKL,downstream_gene_variant,,ENST00000397464,NM_001193389.1;UNKL,downstream_gene_variant,,ENST00000402641,;GNPTG,downstream_gene_variant,,ENST00000529110,;LA16c-316G12.2,upstream_gene_variant,,ENST00000569831,;UNKL,downstream_gene_variant,,ENST00000562537,;GNPTG,non_coding_transcript_exon_variant,,ENST00000527076,;GNPTG,non_coding_transcript_exon_variant,,ENST00000527168,;GNPTG,non_coding_transcript_exon_variant,,ENST00000529957,;UNKL,downstream_gene_variant,,ENST00000511095,;GNPTG,downstream_gene_variant,,ENST00000526820,;GNPTG,downstream_gene_variant,,ENST00000527876,;GNPTG,downstream_gene_variant,,ENST00000534197,;	uc002clm.2	c.557G>A	600/1221	1	1			c.557G>A						16	SNP	c.(556-558)CGG>CAG	62	62			central_nervous_system(1)	1	Broad	N-acetylglucosamine-1-phosphotransferase, gamma			1412483		0.682	ENSG00000090581	6428	g.chr16:1412483G>A		extracellular region|Golgi apparatus	protein binding							70.714424	KEEP	17	9	-1	15	17	17	9	-1	70.732883	15	17	0.479167	1	0	0	0	0	1	0	0	0	--	--		0	A				177	GBM-19-5959-TP	p.R186Q	G	GCCCTGCAGCGGCAGTGGGAC	NM_032520	NP_115909	1412483	Q9UJJ9	GNPTG_HUMAN	0			8	592	+	A	A		Hepatocellular(780;0.0893)	Missense_Mutation	186						
GOLGA1	2800	broad.mit.edu	GRCh37	9	127670739	127670739	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0878-01	TCGA-06-0878-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373555.4:c.982G>A	p.Glu328Lys	p.E328K	ENST00000373555	NM_002077.3	328	Gag/Aag	0			1			T	E/K	uc004bpc.2	protein_coding	YES	CCDS6860.1			982/2304									ovary(1)	1	c.(982-984)GAG>AAG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23157,hmmpanther:PTHR23157:SF24	golgin 97				ENSP00000362656		23-Dec	8.24E-06							6.06E-05	rs754268503,COSM2152215	23-Dec	.		ENST00000373555	Transcript				Golgi cisterna membrane		ENSG00000136935	g.chr9:127670739C>T	4424			MODERATE		2.425	medium	getma.org/?cm=msa&ty=f&p=GOGA1_HUMAN&rb=201&re=400&var=E328K	NA	getma.org/?cm=var&var=hg19,9,127670739,C,T&fts=all	E328K	--	--	1																																		GOLGA1_uc010mws.2_RNA	0,1	1		possibly_damaging(0.786)	p.E328K	NM_002077	NP_002068		deleterious(0)	0,1	GOGA1_HUMAN	GOLGA1	HGNC	Q92805	GOGA1_HUMAN			Q5T165_HUMAN		12	1324	-			UPI000013D059	328			Potential.		SNV	GOLGA1,missense_variant,p.Glu328Lys,ENST00000373555,NM_002077.3;GOLGA1,missense_variant,p.Glu104Lys,ENST00000485337,;GOLGA1,3_prime_UTR_variant,,ENST00000475407,;GOLGA1,non_coding_transcript_exon_variant,,ENST00000373551,;	uc004bpc.2	c.982G>A	1316/4801	1	1			c.982G>A						9	SNP	c.(982-984)GAG>AAG	7	7			ovary(1)	1	Broad	golgin 97			127670739		0.343	ENSG00000136935	6433	g.chr9:127670739C>T		Golgi cisterna membrane								157.3903	KEEP	41	24	-1	59	60	41	24	-1	160.716897	59	60	0.349398	1	0	0	0	0	1	0	0	0	--	--		0	T			GOLGA1_uc010mws.2_RNA	74	GBM-06-0878-TP	p.E328K	C	AAATTCTGCTCAGCAAGTGTT	NM_002077	NP_002068	127670739	Q92805	GOGA1_HUMAN	0			12	1324	-	T	T			Missense_Mutation	328			Potential.			
GOLGA2	2801	broad.mit.edu	GRCh37	9	131020819	131020821	+	inframe_deletion	In_Frame_Del	DEL	TCC	TCC	-			TCGA-06-0152-01	TCGA-06-0152-01	TCC	TCC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000421699.2:c.2121_2123del	p.Glu707del	p.E707del	ENST00000421699	NM_004486.4	707	gaGGAt/gat	0			1			-	ED/D	uc011maw.1	protein_coding	YES	CCDS6896.2			2121-2123/3009									ovary(1)	1	c.(2119-2124)GAGGAT>GAT			Low_complexity_(Seg):seg,Pfam_domain:PF15070,hmmpanther:PTHR10881,hmmpanther:PTHR10881:SF45	Golgi autoantigen, golgin subfamily a, 2				ENSP00000416097		21/26									rs769059373	21/26	.		ENST00000421699	Transcript				Golgi cisterna membrane	protein binding	ENSG00000167110	g.chr9:131020819_131020821delTCC	4425			MODERATE								--	--	1																																		GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004buh.2_In_Frame_Del_p.E180del		1			p.E707del	NM_004486	NP_004477				GOGA2_HUMAN	GOLGA2	HGNC	Q08379	GOGA2_HUMAN			Q5PXD5_HUMAN		21	2134_2136	-			UPI0000D4C11A	707			Potential.|Poly-Glu.		deletion	GOLGA2,inframe_deletion,p.Glu707del,ENST00000421699,NM_004486.4;GOLGA2,inframe_deletion,p.Glu695del,ENST00000609374,;DNM1,downstream_gene_variant,,ENST00000341179,NM_001005336.1;DNM1,downstream_gene_variant,,ENST00000372923,NM_004408.2,NM_001288739.1;DNM1,downstream_gene_variant,,ENST00000393594,NM_001288737.1;DNM1,downstream_gene_variant,,ENST00000486160,;DNM1,downstream_gene_variant,,ENST00000475805,NM_001288738.1;GOLGA2,downstream_gene_variant,,ENST00000450617,;GOLGA2,downstream_gene_variant,,ENST00000458730,;AL590708.1,upstream_gene_variant,,ENST00000408370,;GOLGA2,downstream_gene_variant,,ENST00000490257,;GOLGA2,downstream_gene_variant,,ENST00000462089,;GOLGA2,downstream_gene_variant,,ENST00000486411,;GOLGA2,downstream_gene_variant,,ENST00000470630,;GOLGA2,downstream_gene_variant,,ENST00000468488,;GOLGA2,downstream_gene_variant,,ENST00000461031,;GOLGA2,downstream_gene_variant,,ENST00000496221,;	uc011maw.1	c.2121_2123delGGA	2134-2136/4260	5	5			c.2121_2123delGGA						9	DEL	c.(2119-2124)GAGGAT>GAT	64	64			ovary(1)	1	Broad	Golgi autoantigen, golgin subfamily a, 2			131020821		0.527	ENSG00000167110	6434	g.chr9:131020819_131020821delTCC		Golgi cisterna membrane	protein binding																				0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004buh.2_In_Frame_Del_p.E180del	25	GBM-06-0152-TP	p.E707del	TCC	ctcctcctcatcctcctcctcct	NM_004486	NP_004477	131020819	Q08379	GOGA2_HUMAN	0			21	2134_2136	-	-	-			In_Frame_Del	707			Potential.|Poly-Glu.			
GOLGA3	2802		GRCh37	12	133373156	133373156	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000204726.3:c.2069C>T	p.Ser690Leu	p.S690L	ENST00000204726	NM_005895.3	690	tCg/tTg	0																																																																																																																																																																																																																																												
GOLGA4	2803	broad.mit.edu	GRCh37	3	37369037	37369037	+	stop_gained	Nonsense_Mutation	SNP	T	T	G			TCGA-06-0192-01	TCGA-06-0192-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356847.4:c.5726T>G	p.Leu1909Ter	p.L1909*	ENST00000356847	NM_001172713.1	1909	tTa/tGa	0			1			G	L/*	uc003cgv.2	protein_coding		CCDS2666.1			5660/6693									ovary(2)|breast(1)|central_nervous_system(1)	4	c.(5659-5661)TTA>TGA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19327	golgi autoantigen, golgin subfamily a, 4				ENSP00000354486		14/24									COSM3408617	14/24	.		ENST00000361924	Transcript			Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	ENSG00000144674	g.chr3:37369037T>G	4427			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,3,37369037,T,G&fts=all	L1887*	--	--	1																																		GOLGA4_uc010hgr.1_Nonsense_Mutation_p.L1448*|GOLGA4_uc003cgw.2_Nonsense_Mutation_p.L1909*|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Nonsense_Mutation_p.L1768*	1				p.L1887*	NM_002078	NP_002069			1	GOGA4_HUMAN	GOLGA4	HGNC	Q13439	GOGA4_HUMAN			A8K3D5_HUMAN		14	5964	+			UPI000012B8DE	1887			Potential.|Glu-rich.		SNV	GOLGA4,stop_gained,p.Leu1887Ter,ENST00000361924,NM_002078.4;GOLGA4,stop_gained,p.Leu1909Ter,ENST00000356847,NM_001172713.1;GOLGA4,stop_gained,p.Leu1758Ter,ENST00000437131,;GOLGA4,intron_variant,,ENST00000444882,;GOLGA4,downstream_gene_variant,,ENST00000429018,;GOLGA4,upstream_gene_variant,,ENST00000498250,;GOLGA4,downstream_gene_variant,,ENST00000497537,;	uc003cgv.2	c.5660T>G	6034/7772	5	4			c.5660T>G						3	SNP	c.(5659-5661)TTA>TGA	18	18			ovary(2)|breast(1)|central_nervous_system(1)	4	Broad	golgi autoantigen, golgin subfamily a, 4			37369037		0.353	ENSG00000144674	6437	g.chr3:37369037T>G	Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding							9.516792	KEEP	4	4	-1	21	19	4	4	-1	14.69443	21	19	0.142857	1	0	0	0	0	0	1	0	0	--	--		0	G			GOLGA4_uc010hgr.1_Nonsense_Mutation_p.L1448*|GOLGA4_uc003cgw.2_Nonsense_Mutation_p.L1909*|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Nonsense_Mutation_p.L1768*	44	GBM-06-0192-TP	p.L1887*	T	TTACAGGCTTTACAACAGATG	NM_002078	NP_002069	37369037	Q13439	GOGA4_HUMAN	0			14	5964	+	G	G			Nonsense_Mutation	1887			Potential.|Glu-rich.			
GOLGA4	0	broad.mit.edu	GRCh37	3	37360647	37360647	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5955-01	TCGA-19-5955-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361924.2:c.1507C>T	p.Arg503Ter	p.R503*	ENST00000361924	NM_002078.4	503	Cga/Tga	0			1			T	R/*	uc003cgv.2	protein_coding		CCDS2666.1			1507/6693									ovary(2)|breast(1)|central_nervous_system(1)	4	c.(1507-1509)CGA>TGA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19327	golgi autoantigen, golgin subfamily a, 4				ENSP00000354486		24-Dec									COSM3408615	24-Dec	.		ENST00000361924	Transcript			Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	ENSG00000144674	g.chr3:37360647C>T	4427			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,3,37360647,C,T&fts=all	R503*	--	--	1																																		GOLGA4_uc010hgr.1_Intron|GOLGA4_uc003cgw.2_Nonsense_Mutation_p.R525*|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Nonsense_Mutation_p.R384*	1				p.R503*	NM_002078	NP_002069			1	GOGA4_HUMAN	GOLGA4	HGNC	Q13439	GOGA4_HUMAN			A8K3D5_HUMAN		12	1811	+			UPI000012B8DE	503			Potential.|Glu-rich.		SNV	GOLGA4,stop_gained,p.Arg503Ter,ENST00000361924,NM_002078.4;GOLGA4,stop_gained,p.Arg525Ter,ENST00000356847,NM_001172713.1;GOLGA4,stop_gained,p.Arg374Ter,ENST00000437131,;GOLGA4,intron_variant,,ENST00000429018,;GOLGA4,intron_variant,,ENST00000444882,;GOLGA4,downstream_gene_variant,,ENST00000450863,;GOLGA4,non_coding_transcript_exon_variant,,ENST00000435830,;GOLGA4,upstream_gene_variant,,ENST00000497537,;	uc003cgv.2	c.1507C>T	1881/7772	5	1			c.1507C>T						3	SNP	c.(1507-1509)CGA>TGA	11	11			ovary(2)|breast(1)|central_nervous_system(1)	4	Broad	golgi autoantigen, golgin subfamily a, 4			37360647		0.378	ENSG00000144674	6437	g.chr3:37360647C>T	Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding							28.433589	KEEP	6	11	-1	42	54	6	11	-1	41.035567	42	54	0.149533	1	0	0	0	0	0	1	0	0	--	--		0	T			GOLGA4_uc010hgr.1_Intron|GOLGA4_uc003cgw.2_Nonsense_Mutation_p.R525*|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Nonsense_Mutation_p.R384*	175	GBM-19-5955-TP	p.R503*	C	GCTTCAGACCCGAGAAAGGGA	NM_002078	NP_002069	37360647	Q13439	GOGA4_HUMAN	0			12	1811	+	T	T			Nonsense_Mutation	503			Potential.|Glu-rich.			
GOLGA6A	342096	broad.mit.edu	GRCh37	15	74365151	74365151	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-2561-01	TCGA-06-2561-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290438.3:c.1433T>G	p.Leu478Arg	p.L478R	ENST00000290438	NM_001038640.2	478	cTa/cGa	0			1			C	L/R	uc002axa.1	protein_coding	YES	CCDS32290.1			1433/2082										0	c.(1432-1434)CTA>CGA			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF15070,hmmpanther:PTHR10881	golgi autoantigen, golgin subfamily a, 6				ENSP00000290438		13/18									COSM3747978	13/18	.		ENST00000290438	Transcript						ENSG00000159289	g.chr15:74365151A>C	13567			MODERATE		2.285	medium	getma.org/?cm=msa&ty=f&p=GOG6A_HUMAN&rb=1&re=691&var=L478R	NA	getma.org/?cm=var&var=hg19,15,74365151,A,C&fts=all	L478R	--	--	1																																			1	1		possibly_damaging(0.771)	p.L478R	NM_001038640	NP_001033729		deleterious(0)	1	GOG6A_HUMAN	GOLGA6A	HGNC	Q9NYA3	GOG6A_HUMAN			A2VDJ1_HUMAN		13	1474	-			UPI00001AEB5B	478			Potential.		SNV	GOLGA6A,missense_variant,p.Leu478Arg,ENST00000290438,NM_001038640.2;RN7SL429P,upstream_gene_variant,,ENST00000479090,;GOLGA6A,non_coding_transcript_exon_variant,,ENST00000569486,;GOLGA6A,upstream_gene_variant,,ENST00000562157,;GOLGA6A,downstream_gene_variant,,ENST00000568723,;	uc002axa.1	c.1433T>G	1474/3176	3	3			c.1433T>G						15	SNP	c.(1432-1434)CTA>CGA	8	8				0	Broad	golgi autoantigen, golgin subfamily a, 6			74365151		0.612	ENSG00000159289	6439	g.chr15:74365151A>C										23.518552	KEEP	10	6	-1	41	50	10	6	-1	33.923891	41	50	0.153846	1	0	0	0	0	1	0	0	0	--	--		0	C				84	GBM-06-2561-TP	p.L478R	A	GGCAGCTTCTAGGTGCTCCTA	NM_001038640	NP_001033729	74365151	Q9NYA3	GOG6A_HUMAN	0			13	1474	-	C	C			Missense_Mutation	478			Potential.			
GOLGA6B	0	broad.mit.edu	GRCh37	15	72954655	72954655	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000421285.3:c.910G>A	p.Ala304Thr	p.A304T	ENST00000421285	NM_018652.4	304	Gcc/Acc	0			1			A	A/T	uc010uks.1	protein_coding	YES	CCDS10245.2			910/2082										0	c.(910-912)GCC>ACC			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF15070,hmmpanther:PTHR10881	golgi autoantigen, golgin subfamily a, 6B				ENSP00000408132		18-Nov									COSM1743425	18-Nov	.		ENST00000421285	Transcript						ENSG00000215186	g.chr15:72954655G>A	32205			MODERATE		0.735	neutral	getma.org/?cm=msa&ty=f&p=GOG6B_HUMAN&rb=1&re=691&var=A304T	NA	getma.org/?cm=var&var=hg19,15,72954655,G,A&fts=all	A304T	--	--	1																																			1	1		possibly_damaging(0.682)	p.A304T	NM_018652	NP_061122		tolerated(0.26)	1	GOG6B_HUMAN	GOLGA6B	HGNC	A6NDN3	GOG6B_HUMAN					11	951	+			UPI0000D74C4D	304			Potential.		SNV	GOLGA6B,missense_variant,p.Ala304Thr,ENST00000421285,NM_018652.4;RN7SL853P,upstream_gene_variant,,ENST00000477951,;GOLGA6B,downstream_gene_variant,,ENST00000568532,;	uc010uks.1	c.910G>A	910/2134	2	2			c.910G>A						15	SNP	c.(910-912)GCC>ACC	22	22				0	Broad	golgi autoantigen, golgin subfamily a, 6B			72954655		0.542	ENSG00000215186	6440	g.chr15:72954655G>A										211.592163	KEEP	38	54	-1	72	77	38	54	-1	211.630776	72	77	0.48227	1	0	0	0	0	1	0	0	0	--	--		0	A				139	GBM-14-0817-TP	p.A304T	G	ACAAGATGAGGCCAAACACCT	NM_018652	NP_061122	72954655	A6NDN3	GOG6B_HUMAN	0			11	951	+	A	A			Missense_Mutation	304			Potential.			
GOLGA6B	0	broad.mit.edu	GRCh37	15	72954612	72954612	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-1395-01	TCGA-14-1395-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000421285.3:c.867G>A	p.Ala289=	p.A289=	ENST00000421285	NM_018652.4	289	gcG/gcA	0			1			A	A	uc010uks.1	protein_coding	YES	CCDS10245.2			867/2082										0	c.(865-867)GCG>GCA			Pfam_domain:PF15070,hmmpanther:PTHR10881	golgi autoantigen, golgin subfamily a, 6B				ENSP00000408132		18-Nov	0.000623					5.48E-05		0.000159	rs201791007,COSM128073	18-Nov	common_variant		ENST00000421285	Transcript						ENSG00000215186	g.chr15:72954612G>A	32205			LOW								--	--	1																																			0,1	1			p.A289A	NM_018652	NP_061122			0,1	GOG6B_HUMAN	GOLGA6B	HGNC	A6NDN3	GOG6B_HUMAN					11	908	+			UPI0000D74C4D	289			Potential.		SNV	GOLGA6B,synonymous_variant,p.=,ENST00000421285,NM_018652.4;RN7SL853P,upstream_gene_variant,,ENST00000477951,;GOLGA6B,downstream_gene_variant,,ENST00000568532,;	uc010uks.1	c.867G>A	867/2134	2	2			c.867G>A						15	SNP	c.(865-867)GCG>GCA	36	36				0	Broad	golgi autoantigen, golgin subfamily a, 6B			72954612		0.537	ENSG00000215186	6440	g.chr15:72954612G>A										-15.36091	KEEP	5	1	-1	63	50	5	1	-1	6.862757	63	50	0.040816	1	0	0	0	0	0	0	1	0	--	--		0	A				144	GBM-14-1395-TP	p.A289A	G	CATCCCTGGCGCCCCCAGCAG	NM_018652	NP_061122	72954612	A6NDN3	GOG6B_HUMAN	0			11	908	+	A	A			Silent	289			Potential.			
GOLGA8I			GRCh37	15	23261850	23261850	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000450802.3:c.962C>A	p.Ala321Glu	p.A321E	ENST00000450802		321	gCg/gAg	0																																																																																																																																																																																																																																												
GOLGB1	2804	broad.mit.edu	GRCh37	3	121413146	121413146	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01	TCGA-06-2562-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393667.3:c.6224G>A	p.Arg2075His	p.R2075H	ENST00000393667	NM_001256486.1	2075	cGc/cAc	0		T:0.0008	1	T:0		T	R/H	uc003eei.3	protein_coding		CCDS3004.1			6209/9780									ovary(6)|breast(2)|skin(2)	10	c.(6208-6210)CGC>CAC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18887:SF2,hmmpanther:PTHR18887	golgi autoantigen, golgin subfamily b,		T:0		ENSP00000341848	T:0	13/22	3.29E-05	0.0001		0.000232		1.50E-05			rs372538328,COSM1536249	13/22	.		ENST00000340645	Transcript		T:0.0002	Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	ENSG00000173230	g.chr3:121413146C>T	4429			MODERATE		1.175	low	getma.org/?cm=msa&ty=f&p=GOGB1_HUMAN&rb=1356&re=2374&var=R2070H	NA	getma.org/?cm=var&var=hg19,3,121413146,C,T&fts=all	R2070H	--	--	1																																		GOLGB1_uc010hrc.2_Missense_Mutation_p.R2075H|GOLGB1_uc003eej.3_Missense_Mutation_p.R2036H|GOLGB1_uc011bjm.1_Missense_Mutation_p.R1956H|GOLGB1_uc010hrd.1_Missense_Mutation_p.R2034H	0,1			benign(0.013)	p.R2070H	NM_004487	NP_004478	T:0		0,1	GOGB1_HUMAN	GOLGB1	HGNC	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	C9J8Q0_HUMAN		13	6335	-			UPI000013F0A1	2070			Cytoplasmic (Potential).|Potential.		SNV	GOLGB1,missense_variant,p.Arg2075His,ENST00000393667,NM_001256486.1;GOLGB1,missense_variant,p.Arg2070His,ENST00000340645,NM_001256487.1,NM_004487.4,NM_001256488.1;GOLGB1,downstream_gene_variant,,ENST00000494517,;GOLGB1,downstream_gene_variant,,ENST00000489400,;GOLGB1,3_prime_UTR_variant,,ENST00000482512,;	uc003eei.3	c.6209G>A	6335/11187	1	1			c.6209G>A						3	SNP	c.(6208-6210)CGC>CAC	16	16			ovary(6)|breast(2)|skin(2)	10	Broad	golgi autoantigen, golgin subfamily b,			121413146		0.403	ENSG00000173230	6443	g.chr3:121413146C>T	Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding							-79.940116	KEEP	3	3	-1	166	185	3	3	-1	9.003606	166	185	0.017699	1	0	0	0	0	1	0	0	0	--	--		0	T			GOLGB1_uc010hrc.2_Missense_Mutation_p.R2075H|GOLGB1_uc003eej.3_Missense_Mutation_p.R2036H|GOLGB1_uc011bjm.1_Missense_Mutation_p.R1956H|GOLGB1_uc010hrd.1_Missense_Mutation_p.R2034H	85	GBM-06-2562-TP	p.R2070H	C	TGCCTTTTTGCGGTGTTCAAC	NM_004487	NP_004478	121413146	Q14789	GOGB1_HUMAN	0		GBM - Glioblastoma multiforme(114;0.0989)	13	6335	-	T	T			Missense_Mutation	2070			Cytoplasmic (Potential).|Potential.			
GOLGB1	0	broad.mit.edu	GRCh37	3	121410932	121410932	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340645.5:c.7264G>A	p.Glu2422Lys	p.E2422K	ENST00000340645	NM_001256487.1	2422	Gag/Aag	0			1			T	E/K	uc003eei.3	protein_coding		CCDS3004.1			7264/9780									ovary(6)|breast(2)|skin(2)	10	c.(7264-7266)GAG>AAG			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18887:SF2,hmmpanther:PTHR18887	golgi autoantigen, golgin subfamily b,				ENSP00000341848		14/22									COSM3408167	14/22	.		ENST00000340645	Transcript			Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	ENSG00000173230	g.chr3:121410932C>T	4429			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=GOGB1_HUMAN&rb=2375&re=2474&var=E2422K	NA	getma.org/?cm=var&var=hg19,3,121410932,C,T&fts=all	E2422K	--	--	1																																		GOLGB1_uc010hrc.2_Missense_Mutation_p.E2427K|GOLGB1_uc003eej.3_Missense_Mutation_p.E2388K	1			possibly_damaging(0.603)	p.E2422K	NM_004487	NP_004478			1	GOGB1_HUMAN	GOLGB1	HGNC	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	C9J8Q0_HUMAN		14	7390	-			UPI000013F0A1	2422			Cytoplasmic (Potential).|Potential.|Poly-Glu.		SNV	GOLGB1,missense_variant,p.Glu2427Lys,ENST00000393667,NM_001256486.1;GOLGB1,missense_variant,p.Glu2422Lys,ENST00000340645,NM_001256487.1,NM_004487.4,NM_001256488.1;GOLGB1,downstream_gene_variant,,ENST00000494517,;GOLGB1,downstream_gene_variant,,ENST00000489400,;GOLGB1,3_prime_UTR_variant,,ENST00000482512,;	uc003eei.3	c.7264G>A	7390/11187	1	1			c.7264G>A						3	SNP	c.(7264-7266)GAG>AAG	13	13			ovary(6)|breast(2)|skin(2)	10	Broad	golgi autoantigen, golgin subfamily b,			121410932		0.398	ENSG00000173230	6443	g.chr3:121410932C>T	Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding							315.193407	KEEP	50	52	-1	59	54	50	52	-1	315.30061	59	54	0.475248	1	0	0	0	0	1	0	0	0	--	--		0	T			GOLGB1_uc010hrc.2_Missense_Mutation_p.E2427K|GOLGB1_uc003eej.3_Missense_Mutation_p.E2388K	159	GBM-19-1390-TP	p.E2422K	C	ATATTCTCCTCTTCCTCCTGG	NM_004487	NP_004478	121410932	Q14789	GOGB1_HUMAN	0		GBM - Glioblastoma multiforme(114;0.0989)	14	7390	-	T	T			Missense_Mutation	2422			Cytoplasmic (Potential).|Potential.|Poly-Glu.			
GOLGB1	0	broad.mit.edu	GRCh37	3	121413693	121413693	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-32-2495-01	TCGA-32-2495-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340645.5:c.5662delC	p.Gln1888ArgfsTer4	p.Q1888Rfs*4	ENST00000340645	NM_001256487.1	1888	Cag/ag	0			1			-	Q/X	uc003eei.3	protein_coding		CCDS3004.1			5662/9780									ovary(6)|breast(2)|skin(2)	10	c.(5662-5664)CAGfs			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18887:SF2,hmmpanther:PTHR18887	golgi autoantigen, golgin subfamily b,				ENSP00000341848		13/22										13/22	.		ENST00000340645	Transcript			Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	ENSG00000173230	g.chr3:121413693delG	4429			HIGH								--	--	1																																		GOLGB1_uc010hrc.2_Frame_Shift_Del_p.Q1893fs|GOLGB1_uc003eej.3_Frame_Shift_Del_p.Q1854fs|GOLGB1_uc011bjm.1_Frame_Shift_Del_p.Q1774fs|GOLGB1_uc010hrd.1_Frame_Shift_Del_p.Q1852fs					p.Q1888fs	NM_004487	NP_004478				GOGB1_HUMAN	GOLGB1	HGNC	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	C9J8Q0_HUMAN		13	5788	-			UPI000013F0A1	1888			Cytoplasmic (Potential).|Potential.		deletion	GOLGB1,frameshift_variant,p.Gln1893ArgfsTer4,ENST00000393667,NM_001256486.1;GOLGB1,frameshift_variant,p.Gln1888ArgfsTer4,ENST00000340645,NM_001256487.1,NM_004487.4,NM_001256488.1;GOLGB1,downstream_gene_variant,,ENST00000494517,;GOLGB1,downstream_gene_variant,,ENST00000489400,;GOLGB1,3_prime_UTR_variant,,ENST00000482512,;	uc003eei.3	c.5662delC	5788/11187	5	5			c.5662delC						3	DEL	c.(5662-5664)CAGfs	3	3			ovary(6)|breast(2)|skin(2)	10	Broad	golgi autoantigen, golgin subfamily b,			121413693		0.368	ENSG00000173230	6443	g.chr3:121413693delG	Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding																				0.05	1	1	0	1	0	0	0	0	0	--	--		0	-			GOLGB1_uc010hrc.2_Frame_Shift_Del_p.Q1893fs|GOLGB1_uc003eej.3_Frame_Shift_Del_p.Q1854fs|GOLGB1_uc011bjm.1_Frame_Shift_Del_p.Q1774fs|GOLGB1_uc010hrd.1_Frame_Shift_Del_p.Q1852fs	237	GBM-32-2495-TP	p.Q1888fs	G	ACTTCCTCCTGAAGCATTTTT	NM_004487	NP_004478	121413693	Q14789	GOGB1_HUMAN	0		GBM - Glioblastoma multiforme(114;0.0989)	13	5788	-	-	-			Frame_Shift_Del	1888			Cytoplasmic (Potential).|Potential.			
GOLT1A	0	broad.mit.edu	GRCh37	1	204170871	204170871	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-5299-01	TCGA-12-5299-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308302.3:c.186G>A	p.Arg62=	p.R62=	ENST00000308302	NM_198447.1	62	cgG/cgA	0			1			T	R	uc001has.1	protein_coding	YES	CCDS1443.1			186/399										0	c.(184-186)CGG>CGA			hmmpanther:PTHR21493:SF86,hmmpanther:PTHR21493,Pfam_domain:PF04178	golgi transport 1 homolog A				ENSP00000308535		5-Mar									COSM414684	5-Mar	.		ENST00000308302	Transcript			protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		ENSG00000174567	g.chr1:204170871C>T	24766			LOW								--	--	1																																		GOLT1A_uc001hat.1_Silent_p.R62R	1	1			p.R62R	NM_198447	NP_940849			1	GOT1A_HUMAN	GOLT1A	HGNC	Q6ZVE7	GOT1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)				3	372	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		UPI000005287E	62			Cytoplasmic (Potential).		SNV	GOLT1A,synonymous_variant,p.=,ENST00000308302,NM_198447.1;GOLT1A,upstream_gene_variant,,ENST00000475517,;	uc001has.1	c.186G>A	372/883	1	1			c.186G>A						1	SNP	c.(184-186)CGG>CGA	5	5				0	Broad	golgi transport 1 homolog A			204170871		0.567	ENSG00000174567	6448	g.chr1:204170871C>T	protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane								-46.417467	KEEP	3	3	-1	112	134	3	3	-1	10.421703	112	134	0.026201	1	0	0	0	0	0	0	1	0	--	--		0	T			GOLT1A_uc001hat.1_Silent_p.R62R	130	GBM-12-5299-TP	p.R62R	C	TGAGTTTGTGCCGTTGGAAGA	NM_198447	NP_940849	204170871	Q6ZVE7	GOT1A_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)		3	372	-	T	T	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		Silent	62			Cytoplasmic (Potential).			
GON4L	0	broad.mit.edu	GRCh37	1	155792117	155792117	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-12-0692-01	TCGA-12-0692-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368331.1:c.848A>C	p.Gln283Pro	p.Q283P	ENST00000368331	NM_001037533.1	283	cAg/cCg	0			1			G	Q/P	uc001flz.2	protein_coding		CCDS60296.1			848/6726									ovary(3)	3	c.(847-849)CAG>CCG			hmmpanther:PTHR16088:SF10,hmmpanther:PTHR16088	gon-4-like isoform a				ENSP00000357315		Apr-32									COSM2154285,COSM2154286,COSM2154284	Apr-32	.		ENST00000368331	Transcript			regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	ENSG00000116580	g.chr1:155792117T>G	25973			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=GON4L_HUMAN&rb=260&re=1579&var=Q283P	NA	getma.org/?cm=var&var=hg19,1,155792117,T,G&fts=all	Q283P	--	--	1																																		GON4L_uc001fly.1_Missense_Mutation_p.Q283P|GON4L_uc009wrh.1_Missense_Mutation_p.Q283P|GON4L_uc001fma.1_Missense_Mutation_p.Q283P|GON4L_uc001fmc.2_Missense_Mutation_p.Q283P|GON4L_uc001fmd.3_Missense_Mutation_p.Q283P|GON4L_uc009wri.2_5'UTR|GON4L_uc001fme.2_Missense_Mutation_p.Q111P|GON4L_uc001fmf.2_5'Flank	1,1,1			probably_damaging(0.972)	p.Q283P	NM_001037533	NP_001032622		deleterious(0.01)	1,1,1	GON4L_HUMAN	GON4L	HGNC	Q3T8J9	GON4L_HUMAN					4	945	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		UPI0000351551	283					SNV	GON4L,missense_variant,p.Gln283Pro,ENST00000437809,;GON4L,missense_variant,p.Gln283Pro,ENST00000368331,NM_001037533.1,NM_001282858.1,NM_001282856.1,NM_001282860.1;GON4L,missense_variant,p.Gln283Pro,ENST00000271883,;GON4L,missense_variant,p.Gln283Pro,ENST00000361040,NM_032292.4,NM_001282861.1;GON4L,non_coding_transcript_exon_variant,,ENST00000471341,;GON4L,upstream_gene_variant,,ENST00000467009,;GON4L,downstream_gene_variant,,ENST00000488251,;GON4L,downstream_gene_variant,,ENST00000468867,;	uc001flz.2	c.848A>C	897/7640	3	3			c.848A>C						1	SNP	c.(847-849)CAG>CCG	52	52			ovary(3)	3	Broad	gon-4-like isoform a			155792117		0.458	ENSG00000116580	6450	g.chr1:155792117T>G	regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding							367.8466	KEEP	85	60	-1	99	60	85	60	-1	368.461996	99	60	0.447876	1	0	0	0	0	1	0	0	0	--	--		0	G			GON4L_uc001fly.1_Missense_Mutation_p.Q283P|GON4L_uc009wrh.1_Missense_Mutation_p.Q283P|GON4L_uc001fma.1_Missense_Mutation_p.Q283P|GON4L_uc001fmc.2_Missense_Mutation_p.Q283P|GON4L_uc001fmd.3_Missense_Mutation_p.Q283P|GON4L_uc009wri.2_5'UTR|GON4L_uc001fme.2_Missense_Mutation_p.Q111P|GON4L_uc001fmf.2_5'Flank	122	GBM-12-0692-TP	p.Q283P	T	TAGATTGTGCTGCTTGGCACC	NM_001037533	NP_001032622	155792117	Q3T8J9	GON4L_HUMAN	0			4	945	-	G	G	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		Missense_Mutation	283						
GON4L	0	broad.mit.edu	GRCh37	1	155791284	155791284	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01	TCGA-26-5135-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368331.1:c.944C>T	p.Thr315Met	p.T315M	ENST00000368331	NM_001037533.1	315	aCg/aTg	0			1			A	T/M	uc001flz.2	protein_coding		CCDS60296.1			944/6726									ovary(3)	3	c.(943-945)ACG>ATG			hmmpanther:PTHR16088:SF10,hmmpanther:PTHR16088	gon-4-like isoform a				ENSP00000357315		May-32	1.65E-05					3.00E-05			rs772087475,COSM2157090,COSM2157091,COSM2157089	May-32	.		ENST00000368331	Transcript			regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	ENSG00000116580	g.chr1:155791284G>A	25973			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=GON4L_HUMAN&rb=260&re=1579&var=T315M	NA	getma.org/?cm=var&var=hg19,1,155791284,G,A&fts=all	T315M	--	--	1																																		GON4L_uc001fly.1_Missense_Mutation_p.T315M|GON4L_uc009wrh.1_Missense_Mutation_p.T315M|GON4L_uc001fma.1_Missense_Mutation_p.T315M|GON4L_uc001fmc.2_Missense_Mutation_p.T315M|GON4L_uc001fmd.3_Missense_Mutation_p.T315M|GON4L_uc009wri.2_Translation_Start_Site|GON4L_uc001fme.2_Missense_Mutation_p.T143M|GON4L_uc001fmf.2_Missense_Mutation_p.T9M	0,1,1,1			probably_damaging(0.988)	p.T315M	NM_001037533	NP_001032622		deleterious(0)	0,1,1,1	GON4L_HUMAN	GON4L	HGNC	Q3T8J9	GON4L_HUMAN					5	1041	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		UPI0000351551	315					SNV	GON4L,missense_variant,p.Thr315Met,ENST00000437809,;GON4L,missense_variant,p.Thr315Met,ENST00000368331,NM_001037533.1,NM_001282858.1,NM_001282856.1,NM_001282860.1;GON4L,missense_variant,p.Thr315Met,ENST00000271883,;GON4L,missense_variant,p.Thr315Met,ENST00000361040,NM_032292.4,NM_001282861.1;GON4L,non_coding_transcript_exon_variant,,ENST00000471341,;GON4L,non_coding_transcript_exon_variant,,ENST00000467009,;GON4L,downstream_gene_variant,,ENST00000468867,;	uc001flz.2	c.944C>T	993/7640	2	2			c.944C>T						1	SNP	c.(943-945)ACG>ATG	18	18			ovary(3)	3	Broad	gon-4-like isoform a			155791284		0.398	ENSG00000116580	6450	g.chr1:155791284G>A	regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding							168.744592	KEEP	32	37	-1	78	58	32	37	-1	172.563445	78	58	0.342857	1	0	0	0	0	1	0	0	0	--	--		0	A			GON4L_uc001fly.1_Missense_Mutation_p.T315M|GON4L_uc009wrh.1_Missense_Mutation_p.T315M|GON4L_uc001fma.1_Missense_Mutation_p.T315M|GON4L_uc001fmc.2_Missense_Mutation_p.T315M|GON4L_uc001fmd.3_Missense_Mutation_p.T315M|GON4L_uc009wri.2_Translation_Start_Site|GON4L_uc001fme.2_Missense_Mutation_p.T143M|GON4L_uc001fmf.2_Missense_Mutation_p.T9M	184	GBM-26-5135-TP	p.T315M	G	CATATCTTCCGTCTCACTGAT	NM_001037533	NP_001032622	155791284	Q3T8J9	GON4L_HUMAN	0			5	1041	-	A	A	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		Missense_Mutation	315						
GOPC	0	broad.mit.edu	GRCh37	6	117892118	117892118	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368498.2:c.817G>T	p.Asp273Tyr	p.D273Y	ENST00000368498	NM_020399.3	273	Gat/Tat	0			1			A	D/Y	uc003pxu.2	protein_coding	YES	CCDS5117.1			817/1389	O		ROS1		glioblastoma				ovary(1)	1	c.(817-819)GAT>TAT			hmmpanther:PTHR16528	golgi associated PDZ and coiled-coil motif				ENSP00000357484		9-Jun									COSM3410552,COSM3410553	9-Jun	.		ENST00000368498	Transcript			apical protein localization|cytoplasmic sequestering of CFTR protein|ER to Golgi vesicle-mediated transport|Golgi to plasma membrane transport|protein homooligomerization|protein transport	cell junction|dendrite|Golgi membrane|postsynaptic density|postsynaptic membrane|trans-Golgi network transport vesicle	cystic fibrosis transmembrane conductance regulator binding	ENSG00000047932	g.chr6:117892118C>A	17643			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=GOPC_HUMAN&rb=1&re=275&var=D273Y	NA	getma.org/?cm=var&var=hg19,6,117892118,C,A&fts=all	D273Y	--	--	1																																		GOPC_uc003pxq.1_Missense_Mutation_p.D46Y|GOPC_uc003pxv.2_Missense_Mutation_p.D265Y	1,1	1		possibly_damaging(0.707)	p.D273Y	NM_020399	NP_065132		deleterious(0)	1,1	GOPC_HUMAN	GOPC	HGNC	Q9HD26	GOPC_HUMAN		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)			6	1047	-		all_cancers(87;0.00844)|all_epithelial(87;0.0242)	UPI0000070C27	273					SNV	GOPC,missense_variant,p.Asp273Tyr,ENST00000535237,;GOPC,missense_variant,p.Asp265Tyr,ENST00000052569,NM_001017408.2;GOPC,missense_variant,p.Asp273Tyr,ENST00000368498,NM_020399.3;DCBLD1,downstream_gene_variant,,ENST00000296955,NM_173674.1;GOPC,splice_region_variant,,ENST00000467125,;DCBLD1,downstream_gene_variant,,ENST00000533453,;	uc003pxu.2	c.817G>T	893/4450	1	1			c.817G>T	O		ROS1		glioblastoma	6	SNP	c.(817-819)GAT>TAT	56	56			ovary(1)	1	Broad	golgi associated PDZ and coiled-coil motif			117892118		0.328	ENSG00000047932	6451	g.chr6:117892118C>A	apical protein localization|cytoplasmic sequestering of CFTR protein|ER to Golgi vesicle-mediated transport|Golgi to plasma membrane transport|protein homooligomerization|protein transport	cell junction|dendrite|Golgi membrane|postsynaptic density|postsynaptic membrane|trans-Golgi network transport vesicle	cystic fibrosis transmembrane conductance regulator binding			74			74	-18.30151	KEEP	2	2	0.5	44	76	2	2	0.5	6.813631	44	76	0.037037	1	0	0	0	0	1	0	0	0	--	--		0	A			GOPC_uc003pxq.1_Missense_Mutation_p.D46Y|GOPC_uc003pxv.2_Missense_Mutation_p.D265Y	160	GBM-19-1790-TP	p.D273Y	C	GAATCTTGATCCTTATTGGGA	NM_020399	NP_065132	117892118	Q9HD26	GOPC_HUMAN	0		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)	6	1047	-	A	A		all_cancers(87;0.00844)|all_epithelial(87;0.0242)	Missense_Mutation	273						
GORAB	0	broad.mit.edu	GRCh37	1	170511696	170511696	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367763.3:c.559C>T	p.Arg187Cys	p.R187C	ENST00000367763	NM_152281.2	187	Cgt/Tgt	0	T:0.0005		1			T	R/C	uc001gha.2	protein_coding	YES	CCDS1289.1			559/1185										0	c.(559-561)CGT>TGT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21470,hmmpanther:PTHR21470:SF2,Low_complexity_(Seg):seg	golgin, RAB6-interacting isoform a			T:0	ENSP00000356737		5-Mar	4.12E-05	0.000289				1.50E-05		6.06E-05	rs368371528,COSM2154736	5-Mar	.		ENST00000367763	Transcript	1			Golgi apparatus|nucleus		ENSG00000120370	g.chr1:170511696C>T	25676			MODERATE		2.34	medium	getma.org/?cm=msa&ty=f&p=GORAB_HUMAN&rb=1&re=392&var=R187C	NA	getma.org/?cm=var&var=hg19,1,170511696,C,T&fts=all	R187C	--	--	1																																		GORAB_uc001ggz.3_Missense_Mutation_p.R187C|GORAB_uc009wvx.2_Missense_Mutation_p.R7C|GORAB_uc001ghb.2_Missense_Mutation_p.R7C|GORAB_uc001ghc.2_Missense_Mutation_p.R7C|GORAB_uc001ghd.2_5'Flank	0,1	1		probably_damaging(0.983)	p.R187C	NM_152281	NP_689494		deleterious(0.01)	0,1	GORAB_HUMAN	GORAB	HGNC	Q5T7V8	GORAB_HUMAN					3	586	+			UPI000013FDCA	187			Potential.		SNV	GORAB,missense_variant,p.Arg187Cys,ENST00000367763,NM_152281.2;GORAB,missense_variant,p.Arg187Cys,ENST00000367762,NM_001146039.1;GORAB,downstream_gene_variant,,ENST00000465717,;GORAB,3_prime_UTR_variant,,ENST00000498166,;GORAB,non_coding_transcript_exon_variant,,ENST00000498600,;GORAB,upstream_gene_variant,,ENST00000475113,;	uc001gha.2	c.559C>T	579/2189	2	2			c.559C>T						1	SNP	c.(559-561)CGT>TGT	33	33				0	Broad	golgin, RAB6-interacting isoform a			170511696		0.398	ENSG00000120370	6452	g.chr1:170511696C>T		Golgi apparatus|nucleus								162.909924	KEEP	44	27	-1	95	66	44	27	-1	170.260551	95	66	0.303738	1	0	0	0	0	1	0	0	0	--	--		0	T			GORAB_uc001ggz.3_Missense_Mutation_p.R187C|GORAB_uc009wvx.2_Missense_Mutation_p.R7C|GORAB_uc001ghb.2_Missense_Mutation_p.R7C|GORAB_uc001ghc.2_Missense_Mutation_p.R7C|GORAB_uc001ghd.2_5'Flank	138	GBM-14-0813-TP	p.R187C	C	GAAAAATAAACGTAAAAAAGC	NM_152281	NP_689494	170511696	Q5T7V8	GORAB_HUMAN	0			3	586	+	T	T			Missense_Mutation	187			Potential.			
GORAB	0	broad.mit.edu	GRCh37	1	170508571	170508571	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-2521-01	TCGA-27-2521-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367763.3:c.357C>T	p.Pro119=	p.P119=	ENST00000367763	NM_152281.2	119	ccC/ccT	0			1			T	P	uc001gha.2	protein_coding	YES	CCDS1289.1			357/1185										0	c.(355-357)CCC>CCT			hmmpanther:PTHR21470,hmmpanther:PTHR21470:SF2	golgin, RAB6-interacting isoform a				ENSP00000356737		5-Feb	4.12E-05	0.000192				4.50E-05			rs767686838,COSM3399976	5-Feb	.		ENST00000367763	Transcript	1			Golgi apparatus|nucleus		ENSG00000120370	g.chr1:170508571C>T	25676			LOW								--	--	1																																		GORAB_uc009wvw.2_3'UTR|GORAB_uc001ggz.3_Silent_p.P119P|GORAB_uc009wvx.2_5'UTR|GORAB_uc001ghb.2_5'UTR|GORAB_uc001ghc.2_5'UTR	0,1	1			p.P119P	NM_152281	NP_689494			0,1	GORAB_HUMAN	GORAB	HGNC	Q5T7V8	GORAB_HUMAN					2	384	+			UPI000013FDCA	119					SNV	GORAB,synonymous_variant,p.=,ENST00000367763,NM_152281.2;GORAB,synonymous_variant,p.=,ENST00000367762,NM_001146039.1;GORAB,non_coding_transcript_exon_variant,,ENST00000465717,;GORAB,3_prime_UTR_variant,,ENST00000498166,;GORAB,non_coding_transcript_exon_variant,,ENST00000498600,;	uc001gha.2	c.357C>T	377/2189	1	1			c.357C>T						1	SNP	c.(355-357)CCC>CCT	16	16				0	Broad	golgin, RAB6-interacting isoform a			170508571		0.468	ENSG00000120370	6452	g.chr1:170508571C>T		Golgi apparatus|nucleus								23.996307	KEEP	11	15	-1	87	109	11	15	-1	53.903521	87	109	0.110553	1	0	0	0	0	0	0	1	0	--	--		0	T			GORAB_uc009wvw.2_3'UTR|GORAB_uc001ggz.3_Silent_p.P119P|GORAB_uc009wvx.2_5'UTR|GORAB_uc001ghb.2_5'UTR|GORAB_uc001ghc.2_5'UTR	200	GBM-27-2521-TP	p.P119P	C	TCACCTCCCCCGTTGGTGATG	NM_152281	NP_689494	170508571	Q5T7V8	GORAB_HUMAN	0			2	384	+	T	T			Silent	119						
GORAB	92344		GRCh37	1	170521169	170521169	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000367763.3:c.751A>G	p.Arg251Gly	p.R251G	ENST00000367763	NM_152281.2	251	Agg/Ggg	0																																																																																																																																																																																																																																												
GOT2	2806		GRCh37	16	58752174	58752174	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000245206.5:c.628C>T	p.His210Tyr	p.H210Y	ENST00000245206	NM_002080.2	210	Cat/Tat	0																																																																																																																																																																																																																																												
GP2	0	broad.mit.edu	GRCh37	16	20328646	20328646	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-19-2620-01	TCGA-19-2620-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381362.4:c.1314C>A	p.Ser438=	p.S438=	ENST00000381362	NM_001007240.1	438	tcC/tcA	0			1			T	S	uc002dgv.2	protein_coding	YES	CCDS42128.1			1314/1614									ovary(3)|skin(1)	4	c.(1312-1314)TCC>TCA			PROSITE_profiles:PS51034,hmmpanther:PTHR22962:SF129,hmmpanther:PTHR22962,Pfam_domain:PF00100,SMART_domains:SM00241	zymogen granule membrane glycoprotein 2 isoform				ENSP00000370767		12-Sep									COSM3402132	12-Sep	.		ENST00000381362	Transcript				anchored to membrane|extracellular region|plasma membrane		ENSG00000169347	g.chr16:20328646G>T	4441			LOW								--	--	1																																		GP2_uc002dgw.2_Silent_p.S435S|GP2_uc002dgx.2_Silent_p.S291S|GP2_uc002dgy.2_Silent_p.S288S	1	1			p.S438S	NM_001007240	NP_001007241			1	GP2_HUMAN	GP2	HGNC	P55259	GP2_HUMAN			I3L2Z7_HUMAN		9	1397	-			UPI000059D333	438			ZP.		SNV	GP2,synonymous_variant,p.=,ENST00000302555,;GP2,synonymous_variant,p.=,ENST00000381362,NM_001007240.1,NM_001502.2;GP2,synonymous_variant,p.=,ENST00000381360,NM_001007241.1;GP2,synonymous_variant,p.=,ENST00000341642,NM_001007242.1;GP2,downstream_gene_variant,,ENST00000572347,;GP2,downstream_gene_variant,,ENST00000575582,;GP2,downstream_gene_variant,,ENST00000572478,;GP2,downstream_gene_variant,,ENST00000573897,;GP2,downstream_gene_variant,,ENST00000574982,;	uc002dgv.2	c.1314C>A	1391/2425	2	2			c.1314C>A						16	SNP	c.(1312-1314)TCC>TCA	44	44			ovary(3)|skin(1)	4	Broad	zymogen granule membrane glycoprotein 2 isoform			20328646		0.468	ENSG00000169347	6461	g.chr16:20328646G>T		anchored to membrane|extracellular region|plasma membrane								99.080109	KEEP	26	12	0.684210526	50	36	26	12	0.684210526	103.008671	50	36	0.304348	1	0	0	0	0	0	0	1	0	--	--		0	T			GP2_uc002dgw.2_Silent_p.S435S|GP2_uc002dgx.2_Silent_p.S291S|GP2_uc002dgy.2_Silent_p.S288S	162	GBM-19-2620-TP	p.S438S	G	GGCTTTCCGAGGACTGCCCAT	NM_001007240	NP_001007241	20328646	P55259	GP2_HUMAN	0			9	1397	-	T	T			Silent	438			ZP.			
GPALPP1	55425	broad.mit.edu	GRCh37	13	45580365	45580367	+	inframe_deletion	In_Frame_Del	DEL	GAT	GAT	-	rs138421508		TCGA-02-2485-01	TCGA-02-2485-01	GAT	GAT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361121.2:c.263_265del	p.Asp88del	p.D88del	ENST00000361121		84	GAT/-	0	-:0.0729		1			-	D/-	uc001uzq.2	protein_coding		CCDS9394.1			250-252/1023									pancreas(1)|skin(1)	2	c.(250-252)GATdel			hmmpanther:PTHR15606,Low_complexity_(Seg):seg	hypothetical protein LOC55425			-:0.0792	ENSP00000368447		8-Mar									rs764252971,COSM1255747	8-Mar	.		ENST00000379151	Transcript						ENSG00000133114	g.chr13:45580365_45580367delGAT	20298	13		MODERATE								--	--	1																																		KIAA1704_uc010tfo.1_RNA|KIAA1704_uc001uzr.1_In_Frame_Del_p.D88del|KIAA1704_uc001uzs.2_5'UTR|KIAA1704_uc001uzt.2_5'UTR	0,1				p.D88del	NM_018559	NP_061029			0,1	GPAM1_HUMAN	GPALPP1	HGNC	Q8IXQ4	K1704_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)			3	353_355	+		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	UPI000007435F	88			Poly-Asp.		deletion	GPALPP1,inframe_deletion,p.Asp88del,ENST00000361121,;GPALPP1,inframe_deletion,p.Asp88del,ENST00000379151,NM_018559.2;GPALPP1,5_prime_UTR_variant,,ENST00000357537,;RP11-321C24.1,intron_variant,,ENST00000437748,;RN7SL49P,downstream_gene_variant,,ENST00000581392,;GPALPP1,downstream_gene_variant,,ENST00000479068,;GPALPP1,inframe_deletion,p.Asp88del,ENST00000497558,;	uc001uzq.2	c.250_252delGAT	353-355/1393	5	5			c.250_252delGAT						13	DEL	c.(250-252)GATdel	36	36			pancreas(1)|skin(1)	2	Broad	hypothetical protein LOC55425			45580367		0.286	ENSG00000133114	8113	g.chr13:45580365_45580367delGAT																							0.02	1	1	0	1	0	0	0	0	0	--	--		0	-			KIAA1704_uc010tfo.1_RNA|KIAA1704_uc001uzr.1_In_Frame_Del_p.D88del|KIAA1704_uc001uzs.2_5'UTR|KIAA1704_uc001uzt.2_5'UTR	7	GBM-02-2485-TP	p.D88del	GAT	Ggatgatgacgatgatgatgatg	NM_018559	NP_061029	45580365	Q8IXQ4	K1704_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)	3	353_355	+	-	-		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	In_Frame_Del	88			Poly-Asp.			
GPALPP1	0	broad.mit.edu	GRCh37	13	45580365	45580367	+	inframe_deletion	In_Frame_Del	DEL	GAT	GAT	-	rs138421508		TCGA-76-4928-01	TCGA-76-4928-01	GAT	GAT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379151.4:c.263_265delATG	p.Asp88del	p.D88del	ENST00000379151	NM_018559.2	84	GAT/-	0	-:0.0729		1			-	D/-	uc001uzq.2	protein_coding		CCDS9394.1			250-252/1023									pancreas(1)|skin(1)	2	c.(250-252)GATdel			hmmpanther:PTHR15606,Low_complexity_(Seg):seg	hypothetical protein LOC55425			-:0.0792	ENSP00000368447		8-Mar									rs764252971,COSM1255747	8-Mar	.		ENST00000379151	Transcript						ENSG00000133114	g.chr13:45580365_45580367delGAT	20298	13		MODERATE								--	--	1																																		KIAA1704_uc010tfo.1_RNA|KIAA1704_uc001uzr.1_In_Frame_Del_p.D88del|KIAA1704_uc001uzs.2_5'UTR|KIAA1704_uc001uzt.2_5'UTR	0,1				p.D88del	NM_018559	NP_061029			0,1	GPAM1_HUMAN	GPALPP1	HGNC	Q8IXQ4	K1704_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)			3	353_355	+		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	UPI000007435F	88			Poly-Asp.		deletion	GPALPP1,inframe_deletion,p.Asp88del,ENST00000361121,;GPALPP1,inframe_deletion,p.Asp88del,ENST00000379151,NM_018559.2;GPALPP1,5_prime_UTR_variant,,ENST00000357537,;RP11-321C24.1,intron_variant,,ENST00000437748,;RN7SL49P,downstream_gene_variant,,ENST00000581392,;GPALPP1,downstream_gene_variant,,ENST00000479068,;GPALPP1,inframe_deletion,p.Asp88del,ENST00000497558,;	uc001uzq.2	c.250_252delGAT	353-355/1393	5	5			c.250_252delGAT						13	DEL	c.(250-252)GATdel	36	36			pancreas(1)|skin(1)	2	Broad	hypothetical protein LOC55425			45580367		0.286	ENSG00000133114	8113	g.chr13:45580365_45580367delGAT																							0.02	1	1	0	1	0	0	0	0	0	--	--		0	-			KIAA1704_uc010tfo.1_RNA|KIAA1704_uc001uzr.1_In_Frame_Del_p.D88del|KIAA1704_uc001uzs.2_5'UTR|KIAA1704_uc001uzt.2_5'UTR	268	GBM-76-4928-TP	p.D88del	GAT	Ggatgatgacgatgatgatgatg	NM_018559	NP_061029	45580365	Q8IXQ4	K1704_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)	3	353_355	+	-	-		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	In_Frame_Del	88			Poly-Asp.			
GPAT2	150763		GRCh37	2	96691751	96691751	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000434632.1:c.1165G>A	p.Val389Ile	p.V389I	ENST00000434632		389	Gtc/Atc	0																																																																																																																																																																																																																																												
GPATCH1	0	broad.mit.edu	GRCh37	19	33585093	33585093	+	synonymous_variant	Silent	SNP	C	C	T	rs149673951		TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000170564.2:c.471C>T	p.Phe157=	p.F157=	ENST00000170564	NM_018025.2	157	ttC/ttT	0	T:0.0005		1			T	F	uc002nug.1	protein_coding	YES	CCDS12428.1			471/2796									skin(1)	1	c.(469-471)TTC>TTT			PROSITE_profiles:PS50174,hmmpanther:PTHR13384:SF19,hmmpanther:PTHR13384,Pfam_domain:PF01585	G patch domain containing 1			T:0.0001	ENSP00000170564		20-May	2.47E-05	9.61E-05				3.00E-05			rs149673951,COSM3404083	20-May	.		ENST00000170564	Transcript				catalytic step 2 spliceosome	nucleic acid binding	ENSG00000076650	g.chr19:33585093C>T	24658			LOW								--	--	1																																			0,1	1			p.F157F	NM_018025	NP_060495			0,1	GPTC1_HUMAN	GPATCH1	HGNC	Q9BRR8	GPTC1_HUMAN					5	785	+	Esophageal squamous(110;0.137)		UPI000004EC71	157			G-patch.		SNV	GPATCH1,synonymous_variant,p.=,ENST00000170564,NM_018025.2;GPATCH1,intron_variant,,ENST00000592165,;	uc002nug.1	c.471C>T	785/3492	2	2			c.471C>T						19	SNP	c.(469-471)TTC>TTT	36	36			skin(1)	1	Broad	G patch domain containing 1			33585093		0.393	ENSG00000076650	6469	g.chr19:33585093C>T		catalytic step 2 spliceosome	nucleic acid binding	Pancreas(67;88 1713 4567 18227)			Pancreas(67;88 1713 4567 18227)			223.004575	KEEP	51	30	-1	76	79	51	30	-1	227.14891	76	79	0.353211	1	0	0	0	0	0	0	1	0	--	--		0	T				218	GBM-28-5209-TP	p.F157F	C	CTGTTGGTTTCGAATTGCTAA	NM_018025	NP_060495	33585093	Q9BRR8	GPTC1_HUMAN	0			5	785	+	T	T	Esophageal squamous(110;0.137)		Silent	157			G-patch.			
GPATCH1	0	broad.mit.edu	GRCh37	19	33579113	33579113	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-76-4934-01	TCGA-76-4934-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000170564.2:c.148delC	p.His50ThrfsTer56	p.H50Tfs*56	ENST00000170564	NM_018025.2	49	ttC/tt	0			1			-	F/X	uc002nug.1	protein_coding	YES	CCDS12428.1			147/2796									skin(1)	1	c.(145-147)TTCfs			hmmpanther:PTHR13384:SF19,hmmpanther:PTHR13384,Pfam_domain:PF07713	G patch domain containing 1				ENSP00000170564		20-Feb										20-Feb	.		ENST00000170564	Transcript				catalytic step 2 spliceosome	nucleic acid binding	ENSG00000076650	g.chr19:33579113delC	24658	1		HIGH								--	--	1																																				1			p.F49fs	NM_018025	NP_060495				GPTC1_HUMAN	GPATCH1	HGNC	Q9BRR8	GPTC1_HUMAN					2	461	+	Esophageal squamous(110;0.137)		UPI000004EC71	49					deletion	GPATCH1,frameshift_variant,p.His50ThrfsTer56,ENST00000170564,NM_018025.2;GPATCH1,frameshift_variant,p.His50ThrfsTer68,ENST00000592165,;	uc002nug.1	c.147delC	461/3492	5	5			c.147delC						19	DEL	c.(145-147)TTCfs	11	11			skin(1)	1	Broad	G patch domain containing 1			33579113		0.353	ENSG00000076650	6469	g.chr19:33579113delC		catalytic step 2 spliceosome	nucleic acid binding	Pancreas(67;88 1713 4567 18227)			Pancreas(67;88 1713 4567 18227)																0.44	1	1	0	1	0	0	0	0	0	--	--		0	-				272	GBM-76-4934-TP	p.F49fs	C	ATAAACGATTCCACGGGGCCT	NM_018025	NP_060495	33579113	Q9BRR8	GPTC1_HUMAN	0			2	461	+	-	-	Esophageal squamous(110;0.137)		Frame_Shift_Del	49						
GPATCH1	55094		GRCh37	19	33604693	33604693	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000170564.2:c.1913C>T	p.Pro638Leu	p.P638L	ENST00000170564	NM_018025.2	638	cCa/cTa	0																																																																																																																																																																																																																																												
GPATCH2	0	broad.mit.edu	GRCh37	1	217688167	217688167	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-2623-01	TCGA-19-2623-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366935.3:c.1163A>G	p.His388Arg	p.H388R	ENST00000366935	NM_018040.2	388	cAt/cGt	0			1			C	H/R	uc001hlf.1	protein_coding	YES	CCDS1518.1			1163/1587									ovary(1)	1	c.(1162-1164)CAT>CGT			hmmpanther:PTHR14195,hmmpanther:PTHR14195:SF4	G patch domain containing 2				ENSP00000355902		10-Jun									COSM3400332	10-Jun	.		ENST00000366935	Transcript				intracellular	nucleic acid binding	ENSG00000092978	g.chr1:217688167T>C	25499			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=GPTC2_HUMAN&rb=201&re=400&var=H388R	NA	getma.org/?cm=var&var=hg19,1,217688167,T,C&fts=all	H388R	--	--	1																																			1	1		benign(0.218)	p.H388R	NM_018040	NP_060510		tolerated(0.71)	1	GPTC2_HUMAN	GPATCH2	HGNC	Q9NW75	GPTC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)			6	1259	-			UPI000004A012	388					SNV	GPATCH2,missense_variant,p.His388Arg,ENST00000366935,NM_018040.2;GPATCH2,non_coding_transcript_exon_variant,,ENST00000470014,;GPATCH2,non_coding_transcript_exon_variant,,ENST00000485274,;	uc001hlf.1	c.1163A>G	1274/5851	3	3			c.1163A>G						1	SNP	c.(1162-1164)CAT>CGT	55	55			ovary(1)	1	Broad	G patch domain containing 2			217688167		0.353	ENSG00000092978	6470	g.chr1:217688167T>C		intracellular	nucleic acid binding							53.291093	KEEP	6	14	-1	15	13	6	14	-1	53.723653	15	13	0.390244	1	0	0	0	0	1	0	0	0	--	--		0	C				163	GBM-19-2623-TP	p.H388R	T	TACTCACTCATGGTGATGAGA	NM_018040	NP_060510	217688167	Q9NW75	GPTC2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)	6	1259	-	C	C			Missense_Mutation	388						
GPATCH4	0	broad.mit.edu	GRCh37	1	156565503	156565504	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-32-2494-01	TCGA-32-2494-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000438976.2:c.629dupA	p.Lys211GlufsTer16	p.K211Efs*16	ENST00000438976		210	aag/aaAg	0			1			T	K/KX	uc001fpm.2	protein_coding	YES	CCDS44245.1			629-630/1128									ovary(1)	1	c.(628-630)AAGfs			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23149,hmmpanther:PTHR23149:SF8,Low_complexity_(Seg):seg	G patch domain containing 4 isoform 1				ENSP00000396441		8-Aug	9.06E-05	0.000196		0.000116		4.53E-05		0.000122	rs754640631	8-Aug	.		ENST00000438976	Transcript				intracellular	nucleic acid binding	ENSG00000160818	g.chr1:156565503_156565504insT	25982			HIGH								--	--	1																																		APOA1BP_uc010php.1_Intron|GPATCH4_uc001fpl.2_Frame_Shift_Ins_p.K205fs		1			p.K210fs	NM_015590	NP_056405					GPATCH4	HGNC	Q5T3I0	GPTC4_HUMAN			E9PAV9_HUMAN		8	668_669	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		UPI00001B55A9	205			Potential.		insertion	GPATCH4,frameshift_variant,p.Lys206GlufsTer16,ENST00000368232,NM_015590.3,NM_182679.2;GPATCH4,frameshift_variant,p.Lys211GlufsTer16,ENST00000438976,;GPATCH4,frameshift_variant,p.Lys177GlufsTer16,ENST00000415314,;APOA1BP,downstream_gene_variant,,ENST00000368235,NM_144772.2;APOA1BP,downstream_gene_variant,,ENST00000368233,;APOA1BP,downstream_gene_variant,,ENST00000368234,;GPATCH4,downstream_gene_variant,,ENST00000334588,;GPATCH4,non_coding_transcript_exon_variant,,ENST00000497287,;APOA1BP,downstream_gene_variant,,ENST00000467374,;GPATCH4,downstream_gene_variant,,ENST00000531129,;APOA1BP,downstream_gene_variant,,ENST00000488840,;GPATCH4,3_prime_UTR_variant,,ENST00000463513,;GPATCH4,non_coding_transcript_exon_variant,,ENST00000494414,;GPATCH4,downstream_gene_variant,,ENST00000473910,;GPATCH4,downstream_gene_variant,,ENST00000506832,;GPATCH4,downstream_gene_variant,,ENST00000527691,;GPATCH4,downstream_gene_variant,,ENST00000474904,;GPATCH4,downstream_gene_variant,,ENST00000531900,;GPATCH4,downstream_gene_variant,,ENST00000498756,;GPATCH4,downstream_gene_variant,,ENST00000529520,;GPATCH4,downstream_gene_variant,,ENST00000498641,;GPATCH4,downstream_gene_variant,,ENST00000525375,;	uc001fpm.2	c.629_630insA	660-661/1159	5	5			c.629_630insA						1	INS	c.(628-630)AAGfs	18	18			ovary(1)	1	Broad	G patch domain containing 4 isoform 1			156565504		0.535	ENSG00000160818	6472	g.chr1:156565503_156565504insT		intracellular	nucleic acid binding																				0.03	1	0	0	1	1	0	0	0	0	--	--		0	T			APOA1BP_uc010php.1_Intron|GPATCH4_uc001fpl.2_Frame_Shift_Ins_p.K205fs	236	GBM-32-2494-TP	p.K210fs	-	TTTTCTTTTTCTTTTTTTTGGG	NM_015590	NP_056405	156565503	Q5T3I0	GPTC4_HUMAN	0			8	668_669	-	T	T	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		Frame_Shift_Ins	205			Potential.			
GPC2	0	broad.mit.edu	GRCh37	7	99773980	99773980	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01	TCGA-74-6573-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000292377.2:c.175C>T	p.Leu59Phe	p.L59F	ENST00000292377	NM_152742.1	59	Ctc/Ttc	0			1			A	L/F	uc003utv.2	protein_coding	YES	CCDS5689.1			175/1740									breast(1)|pancreas(1)	2	c.(175-177)CTC>TTC			Pfam_domain:PF01153,hmmpanther:PTHR10822,hmmpanther:PTHR10822:SF24	glypican 2 precursor				ENSP00000292377		10-Feb									COSM3412588	10-Feb	.		ENST00000292377	Transcript				anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	ENSG00000213420	g.chr7:99773980G>A	4450			MODERATE		2.42	medium	getma.org/?cm=msa&ty=f&p=GPC2_HUMAN&rb=7&re=573&var=L59F	getma.org/pdb.php?prot=GPC2_HUMAN&from=7&to=573&var=L59F	getma.org/?cm=var&var=hg19,7,99773980,G,A&fts=all	L59F	--	--	1																																		GPC2_uc010lgr.2_RNA|GPC2_uc003utw.1_Missense_Mutation_p.L59F|STAG3_uc010lgs.1_5'Flank|STAG3_uc003utx.1_5'Flank|STAG3_uc011kjk.1_5'Flank	1	1		probably_damaging(0.998)	p.L59F	NM_152742	NP_689955		deleterious(0)	1	GPC2_HUMAN	GPC2	HGNC	Q8N158	GPC2_HUMAN					2	343	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		UPI000005340D	59					SNV	GPC2,missense_variant,p.Leu59Phe,ENST00000292377,NM_152742.1;STAG3,upstream_gene_variant,,ENST00000426455,NM_001282716.1;STAG3,upstream_gene_variant,,ENST00000317296,NM_012447.2,NM_001282717.1;STAG3,upstream_gene_variant,,ENST00000394018,NM_001282718.1;STAG3,upstream_gene_variant,,ENST00000439782,;STAG3,upstream_gene_variant,,ENST00000416412,;STAG3,upstream_gene_variant,,ENST00000422690,;GPC2,non_coding_transcript_exon_variant,,ENST00000480087,;GPC2,non_coding_transcript_exon_variant,,ENST00000482569,;GPC2,upstream_gene_variant,,ENST00000471050,;GPC2,non_coding_transcript_exon_variant,,ENST00000471717,;STAG3,upstream_gene_variant,,ENST00000496157,;GPC2,upstream_gene_variant,,ENST00000490629,;GPC2,upstream_gene_variant,,ENST00000486702,;STAG3,upstream_gene_variant,,ENST00000482546,;	uc003utv.2	c.175C>T	343/2532	2	2			c.175C>T						7	SNP	c.(175-177)CTC>TTC	36	36			breast(1)|pancreas(1)	2	Broad	glypican 2 precursor			99773980		0.567	ENSG00000213420	6478	g.chr7:99773980G>A		anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding							114.17784	KEEP	28	19	-1	50	51	28	19	-1	117.839135	50	51	0.317073	1	0	0	0	0	1	0	0	0	--	--		0	A			GPC2_uc010lgr.2_RNA|GPC2_uc003utw.1_Missense_Mutation_p.L59F|STAG3_uc010lgs.1_5'Flank|STAG3_uc003utx.1_5'Flank|STAG3_uc011kjk.1_5'Flank	260	GBM-74-6573-TP	p.L59F	G	CAGACCCGGAGGTGCTCACCT	NM_152742	NP_689955	99773980	Q8N158	GPC2_HUMAN	0			2	343	-	A	A	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		Missense_Mutation	59						
GPC3	0	broad.mit.edu	GRCh37	X	133087081	133087081	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-4210-01	TCGA-32-4210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370818.3:c.333C>G	p.Phe111Leu	p.F111L	ENST00000370818	NM_001164618.1	111	ttC/ttG	0			1			C	F/L	uc004exe.1	protein_coding		CCDS14638.1			333/1743	T|D|Mis|N|F|S			Wilms tumour					lung(2)|prostate(1)|breast(1)|skin(1)	5	c.(331-333)TTC>TTG			hmmpanther:PTHR10822:SF4,hmmpanther:PTHR10822,Pfam_domain:PF01153	glypican 3 isoform 2 precursor				ENSP00000359854		8-Feb									COSM3405979,COSM3405978	8-Feb	.	Simpson-Golabi-Behmel_syndrome	ENST00000370818	Transcript	1			extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	ENSG00000147257	g.chrX:133087081G>C	4451			MODERATE		2.05	medium	getma.org/?cm=msa&ty=f&p=GPC3_HUMAN&rb=10&re=578&var=F111L	getma.org/pdb.php?prot=GPC3_HUMAN&from=10&to=578&var=F111L	getma.org/?cm=var&var=hg19,X,133087081,G,C&fts=all	F111L	--	--	1																																		GPC3_uc010nrn.1_Missense_Mutation_p.F111L|GPC3_uc011mvh.1_Intron|GPC3_uc010nro.1_Intron|GPC3_uc010nrp.1_5'UTR	1,1			probably_damaging(0.925)	p.F111L	NM_004484	NP_004475		tolerated(0.05)	1,1	GPC3_HUMAN	GPC3	HGNC	P51654	GPC3_HUMAN			I6QTG3_HUMAN		2	523	-	Acute lymphoblastic leukemia(192;0.000127)		UPI0000032F5E	111					SNV	GPC3,missense_variant,p.Phe111Leu,ENST00000370818,NM_001164618.1,NM_004484.3;GPC3,missense_variant,p.Phe111Leu,ENST00000394299,NM_001164617.1;GPC3,intron_variant,,ENST00000543339,NM_001164619.1;	uc004exe.1	c.333C>G	779/2568	3	3			c.333C>G	T|D|Mis|N|F|S			Wilms tumour		23	SNP	c.(331-333)TTC>TTG	11	11			lung(2)|prostate(1)|breast(1)|skin(1)	5	Broad	glypican 3 isoform 2 precursor			133087081	Simpson-Golabi-Behmel_syndrome	0.373	ENSG00000147257	6479	g.chrX:133087081G>C		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			125			125	-51.403846	KEEP	9	5	-1	189	194	9	5	-1	30.957373	189	194	0.034384	1	0	0	0	0	1	0	0	0	--	--		0	C			GPC3_uc010nrn.1_Missense_Mutation_p.F111L|GPC3_uc011mvh.1_Intron|GPC3_uc010nro.1_Intron|GPC3_uc010nrp.1_5'UTR	245	GBM-32-4210-TP	p.F111L	G	ACTCACCTTGGAAAACCGCAG	NM_004484	NP_004475	133087081	P51654	GPC3_HUMAN	0			2	523	-	C	C	Acute lymphoblastic leukemia(192;0.000127)		Missense_Mutation	111						
GPC6	0	broad.mit.edu	GRCh37	13	94680086	94680086	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-0871-01	TCGA-14-0871-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377047.4:c.815A>G	p.Asn272Ser	p.N272S	ENST00000377047	NM_005708.3	272	aAc/aGc	0			1			G	N/S	uc001vlt.2	protein_coding	YES	CCDS9469.1			815/1668										0	c.(814-816)AAC>AGC			hmmpanther:PTHR10822:SF26,hmmpanther:PTHR10822,PROSITE_patterns:PS01207,Pfam_domain:PF01153	glypican 6 precursor				ENSP00000366246		9-Apr									COSM3399456	9-Apr	.		ENST00000377047	Transcript	1			anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	ENSG00000183098	g.chr13:94680086A>G	4454			MODERATE		3.435	medium	getma.org/?cm=msa&ty=f&p=GPC6_HUMAN&rb=7&re=554&var=N272S	getma.org/pdb.php?prot=GPC6_HUMAN&from=7&to=554&var=N272S	getma.org/?cm=var&var=hg19,13,94680086,A,G&fts=all	N272S	--	--	1																																		GPC6_uc010tig.1_Missense_Mutation_p.N272S	1	1		possibly_damaging(0.461)	p.N272S	NM_005708	NP_005699		deleterious(0.01)	1	GPC6_HUMAN	GPC6	HGNC	Q9Y625	GPC6_HUMAN					4	1447	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)	UPI0000032F5B	272					SNV	GPC6,missense_variant,p.Asn272Ser,ENST00000377047,NM_005708.3;RNA5SP35,upstream_gene_variant,,ENST00000391257,;	uc001vlt.2	c.815A>G	1430/6467	3	3			c.815A>G						13	SNP	c.(814-816)AAC>AGC	50	50				0	Broad	glypican 6 precursor			94680086		0.527	ENSG00000183098	6482	g.chr13:94680086A>G		anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding							1072.390156	KEEP	152	139	-1	2	9	152	139	-1	1095.232367	2	9	0.959707	1	0	0	0	0	1	0	0	0	--	--		0	G			GPC6_uc010tig.1_Missense_Mutation_p.N272S	141	GBM-14-0871-TP	p.N272S	A	TACTGTCTCAACGTCATGAAG	NM_005708	NP_005699	94680086	Q9Y625	GPC6_HUMAN	0			4	1447	+	G	G	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)	Missense_Mutation	272						
GPD1L	0	broad.mit.edu	GRCh37	3	32180198	32180198	+	synonymous_variant	Silent	SNP	G	G	A	rs149167213		TCGA-28-6450-01	TCGA-28-6450-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282541.5:c.345G>A	p.Ala115=	p.A115=	ENST00000282541	NM_015141.3	115	gcG/gcA	0	A:0.0005		1			A	A	uc003cew.2	protein_coding	YES	CCDS33729.1			345/1056										0	c.(343-345)GCG>GCA			hmmpanther:PTHR11728,hmmpanther:PTHR11728:SF7,Gene3D:3.40.50.720,Pfam_domain:PF01210,TIGRFAM_domain:TIGR03376,PIRSF_domain:PIRSF000114,Superfamily_domains:SSF51735	glycerol-3-phosphate dehydrogenase 1-like			A:0	ENSP00000282541		8-Mar	8.24E-05	0.000192		0.000116		0.000105			rs149167213,COSM3408596	8-Mar	.		ENST00000282541	Transcript	1		glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity	ENSG00000152642	g.chr3:32180198G>A	28956			LOW								--	--	1																																			0,1	1			p.A115A	NM_015141	NP_055956			0,1	GPD1L_HUMAN	GPD1L	HGNC	Q8N335	GPD1L_HUMAN			C9K0P5_HUMAN,C9JFA7_HUMAN,B3KWN2_HUMAN		3	405	+			UPI000006E26D	115					SNV	GPD1L,synonymous_variant,p.=,ENST00000282541,NM_015141.3;GPD1L,synonymous_variant,p.=,ENST00000431009,;GPD1L,synonymous_variant,p.=,ENST00000429432,;GPD1L,intron_variant,,ENST00000425459,;GPD1L,missense_variant,p.Arg56His,ENST00000428684,;	uc003cew.2	c.345G>A	546/4060	2	2			c.345G>A						3	SNP	c.(343-345)GCG>GCA	45	45				0	Broad	glycerol-3-phosphate dehydrogenase 1-like			32180198		0.502	ENSG00000152642	6485	g.chr3:32180198G>A	glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity							105.043518	KEEP	17	21	-1	30	35	17	21	-1	106.151199	30	35	0.385417	1	0	0	0	0	0	0	1	0	--	--		0	A				227	GBM-28-6450-TP	p.A115A	G	CCAAGAAAGCGCTGGGAATCA	NM_015141	NP_055956	32180198	Q8N335	GPD1L_HUMAN	0			3	405	+	A	A			Silent	115						
GPD2	0	broad.mit.edu	GRCh37	2	157407115	157407115	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310454.6:c.828G>A	p.Gly276=	p.G276=	ENST00000310454	NM_001083112.2	276	ggG/ggA	0			1			A	G	uc002tzf.3	protein_coding	YES	CCDS2202.1			828/2184									ovary(1)	1	c.(826-828)GGG>GGA			hmmpanther:PTHR11985:SF1,hmmpanther:PTHR11985,Pfam_domain:PF01266,Gene3D:3.50.50.60,Superfamily_domains:SSF51905	glycerol-3-phosphate dehydrogenase 2,				ENSP00000308610		17-Aug									COSM3406955	17-Aug	.		ENST00000310454	Transcript			cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity	ENSG00000115159	g.chr2:157407115G>A	4456			LOW								--	--	1																																		GPD2_uc010zch.1_Silent_p.G49G|GPD2_uc002tzd.3_Silent_p.G276G|GPD2_uc002tze.1_RNA	1	1			p.G276G	NM_001083112	NP_001076581			1	GPDM_HUMAN	GPD2	HGNC	P43304	GPDM_HUMAN			Q53T76_HUMAN,Q53RD0_HUMAN,F8W6E4_HUMAN,F5GYK7_HUMAN,E7EM56_HUMAN		8	1188	+			UPI000013F012	276					SNV	GPD2,splice_region_variant,p.=,ENST00000310454,NM_001083112.2;GPD2,splice_region_variant,p.=,ENST00000438166,NM_000408.4;GPD2,splice_region_variant,p.=,ENST00000409674,;GPD2,splice_region_variant,p.=,ENST00000540309,;GPD2,splice_region_variant,p.=,ENST00000409125,;GPD2,splice_region_variant,p.=,ENST00000409861,;	uc002tzf.3	c.828G>A	1200/6041	1	1			c.828G>A						2	SNP	c.(826-828)GGG>GGA	54	54			ovary(1)	1	Broad	glycerol-3-phosphate dehydrogenase 2,			157407115		0.438	ENSG00000115159	6486	g.chr2:157407115G>A	cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity							-31.237686	KEEP	2	3	-1	87	94	2	3	-1	6.776305	87	94	0.026144	1	0	0	0	0	0	0	1	0	--	--		0	A			GPD2_uc010zch.1_Silent_p.G49G|GPD2_uc002tzd.3_Silent_p.G276G|GPD2_uc002tze.1_RNA	190	GBM-27-1831-TP	p.G276G	G	CTTTCACAGGGCAGGAATTTG	NM_001083112	NP_001076581	157407115	P43304	GPDM_HUMAN	0			8	1188	+	A	A			Silent	276						
GPD2	0	broad.mit.edu	GRCh37	2	157439407	157439407	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1834-01	TCGA-27-1834-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310454.6:c.2161G>A	p.Asp721Asn	p.D721N	ENST00000310454	NM_001083112.2	721	Gac/Aac	0			1			A	D/N	uc002tzf.3	protein_coding	YES	CCDS2202.1			2161/2184									ovary(1)	1	c.(2161-2163)GAC>AAC			hmmpanther:PTHR11985:SF1,hmmpanther:PTHR11985	glycerol-3-phosphate dehydrogenase 2,				ENSP00000308610		17/17									COSM3406956	17/17	.		ENST00000310454	Transcript			cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity	ENSG00000115159	g.chr2:157439407G>A	4456			MODERATE		1.545	low	getma.org/?cm=msa&ty=f&p=GPDM_HUMAN&rb=642&re=727&var=D721N	NA	getma.org/?cm=var&var=hg19,2,157439407,G,A&fts=all	D721N	--	--	1																																		GPD2_uc010zch.1_Missense_Mutation_p.D494N|GPD2_uc002tzd.3_Missense_Mutation_p.D721N|GPD2_uc002tze.1_RNA	1	1		benign(0.022)	p.D721N	NM_001083112	NP_001076581		tolerated(0.1)	1	GPDM_HUMAN	GPD2	HGNC	P43304	GPDM_HUMAN			Q53T76_HUMAN,Q53RD0_HUMAN,F8W6E4_HUMAN,F5GYK7_HUMAN,E7EM56_HUMAN		17	2521	+			UPI000013F012	721					SNV	GPD2,missense_variant,p.Asp721Asn,ENST00000310454,NM_001083112.2;GPD2,missense_variant,p.Asp721Asn,ENST00000438166,NM_000408.4;GPD2,missense_variant,p.Asp721Asn,ENST00000409674,;GPD2,missense_variant,p.Asp494Asn,ENST00000409125,;GPD2,3_prime_UTR_variant,,ENST00000540309,;GPD2,non_coding_transcript_exon_variant,,ENST00000496190,;GPD2,non_coding_transcript_exon_variant,,ENST00000492005,;GPD2,missense_variant,p.Asp721Asn,ENST00000409861,;GPD2,non_coding_transcript_exon_variant,,ENST00000464846,;	uc002tzf.3	c.2161G>A	2533/6041	2	2			c.2161G>A						2	SNP	c.(2161-2163)GAC>AAC	41	41			ovary(1)	1	Broad	glycerol-3-phosphate dehydrogenase 2,			157439407		0.443	ENSG00000115159	6486	g.chr2:157439407G>A	cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity							33.240538	KEEP	8	8	-1	42	40	8	8	-1	42.693914	42	40	0.172043	1	0	0	0	0	1	0	0	0	--	--		0	A			GPD2_uc010zch.1_Missense_Mutation_p.D494N|GPD2_uc002tzd.3_Missense_Mutation_p.D721N|GPD2_uc002tze.1_RNA	193	GBM-27-1834-TP	p.D721N	G	AATTCCAGTGGACCGTAGTTG	NM_001083112	NP_001076581	157439407	P43304	GPDM_HUMAN	0			17	2521	+	A	A			Missense_Mutation	721						
GPM6A	0	broad.mit.edu	GRCh37	4	176594942	176594942	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-4211-01	TCGA-32-4211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000280187.7:c.276C>G	p.Phe92Leu	p.F92L	ENST00000280187	NM_005277.4	92	ttC/ttG	0			1			C	F/L	uc003iuf.2	protein_coding	YES	CCDS3824.1			276/837										0	c.(274-276)TTC>TTG			Pfam_domain:PF01275,Prints_domain:PR00214,hmmpanther:PTHR11683,hmmpanther:PTHR11683:SF4,Transmembrane_helices:TMhelix	glycoprotein M6A isoform 2				ENSP00000280187		8-Apr									COSM2157365	8-Apr	.		ENST00000280187	Transcript				cell surface|integral to membrane		ENSG00000150625	g.chr4:176594942G>C	4460			MODERATE		2.305	medium	getma.org/?cm=msa&ty=f&p=GPM6A_HUMAN&rb=13&re=254&var=F92L	NA	getma.org/?cm=var&var=hg19,4,176594942,G,C&fts=all	F92L	--	--	1																																		GPM6A_uc011ckj.1_Missense_Mutation_p.F85L|GPM6A_uc003iug.2_Missense_Mutation_p.F92L|GPM6A_uc003iuh.2_Missense_Mutation_p.F81L	1	1		probably_damaging(0.964)	p.F92L	NM_201591	NP_963885		deleterious(0.04)	1	GPM6A_HUMAN	GPM6A	HGNC	P51674	GPM6A_HUMAN		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)	Q49AH3_HUMAN,D6RIF4_HUMAN,D6RFZ3_HUMAN,D6RFY0_HUMAN,D6REJ8_HUMAN,D6RD95_HUMAN,D6RBM6_HUMAN,D6RBH3_HUMAN,D6RAE4_HUMAN,D6R9T7_HUMAN		3	1080	-		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	UPI000012EAE1	92			Helical; (Potential).		SNV	GPM6A,missense_variant,p.Phe92Leu,ENST00000280187,NM_005277.4;GPM6A,missense_variant,p.Phe92Leu,ENST00000393658,NM_201591.2;GPM6A,missense_variant,p.Phe81Leu,ENST00000506894,NM_201592.2;GPM6A,missense_variant,p.Phe85Leu,ENST00000515090,NM_001261448.1;GPM6A,missense_variant,p.Phe84Leu,ENST00000503397,;GPM6A,missense_variant,p.Phe92Leu,ENST00000513365,;GPM6A,missense_variant,p.Phe29Leu,ENST00000505561,;GPM6A,missense_variant,p.Phe29Leu,ENST00000502754,;GPM6A,missense_variant,p.Phe29Leu,ENST00000512897,;GPM6A,missense_variant,p.Phe29Leu,ENST00000513667,;GPM6A,missense_variant,p.Phe29Leu,ENST00000512610,;GPM6A,missense_variant,p.Phe29Leu,ENST00000507540,;GPM6A,missense_variant,p.Phe29Leu,ENST00000507520,;GPM6A,missense_variant,p.Phe29Leu,ENST00000512509,;GPM6A,missense_variant,p.Phe29Leu,ENST00000505375,;GPM6A,missense_variant,p.Phe29Leu,ENST00000509865,;	uc003iuf.2	c.276C>G	322/2854	3	3			c.276C>G						4	SNP	c.(274-276)TTC>TTG	64	64				0	Broad	glycoprotein M6A isoform 2			176594942		0.418	ENSG00000150625	6495	g.chr4:176594942G>C		cell surface|integral to membrane								123.390753	KEEP	19	17	-1	49	33	19	17	-1	126.098898	49	33	0.330189	1	0	0	0	0	1	0	0	0	--	--		0	C			GPM6A_uc011ckj.1_Missense_Mutation_p.F85L|GPM6A_uc003iug.2_Missense_Mutation_p.F92L|GPM6A_uc003iuh.2_Missense_Mutation_p.F81L	246	GBM-32-4211-TP	p.F92L	G	CATACACAAAGAACGCAGCTG	NM_201591	NP_963885	176594942	P51674	GPM6A_HUMAN	0		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)	3	1080	-	C	C		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	Missense_Mutation	92			Helical; (Potential).			
GPN1	0	broad.mit.edu	GRCh37	2	27861753	27861753	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01	TCGA-28-5216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000610189.1:c.572C>T	p.Thr191Ile	p.T191I	ENST00000610189	NM_007266.3	191	aCt/aTt	0			1			T	T/I	uc010ymc.1	protein_coding					572/1125										0	c.(613-615)ACT>ATT			hmmpanther:PTHR21231,hmmpanther:PTHR21231:SF7,Gene3D:3.40.50.300,Pfam_domain:PF03029,Superfamily_domains:SSF52540	GPN-loop GTPase 1 isoform a				ENSP00000476446		14-Sep									COSM3407803,COSM3407801,COSM3407802	14-Sep	.		ENST00000610189	Transcript				cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding	ENSG00000198522	g.chr2:27861753C>T	17030			MODERATE		-0.88	neutral	getma.org/?cm=msa&ty=f&p=GPN1_HUMAN&rb=24&re=264&var=T191I	getma.org/pdb.php?prot=GPN1_HUMAN&from=24&to=264&var=T191I	getma.org/?cm=var&var=hg19,2,27861753,C,T&fts=all	T191I	--	--	1																																		GPN1_uc010ezf.2_Missense_Mutation_p.T179I|GPN1_uc010yma.1_Missense_Mutation_p.T112I|GPN1_uc010ymb.1_Missense_Mutation_p.T96I|GPN1_uc010ymd.1_Missense_Mutation_p.T86I|GPN1_uc010yme.1_Missense_Mutation_p.T205I|GPN1_uc010ezg.1_Missense_Mutation_p.T86I	1,1,1			benign(0.123)	p.T205I	NM_007266	NP_009197		tolerated(0.26)	1,1,1		GPN1	HGNC	Q9HCN4	GPN1_HUMAN			Q53RZ9_HUMAN		9	635	+			UPI000006E7AC	191					SNV	GPN1,missense_variant,p.Thr205Ile,ENST00000264718,;GPN1,missense_variant,p.Thr191Ile,ENST00000610189,NM_007266.3;GPN1,missense_variant,p.Thr112Ile,ENST00000424214,NM_001145048.1;GPN1,missense_variant,p.Thr112Ile,ENST00000515877,;GPN1,missense_variant,p.Thr96Ile,ENST00000458167,NM_001145049.1;GPN1,missense_variant,p.Thr179Ile,ENST00000407583,NM_001145047.1;GPN1,missense_variant,p.Thr96Ile,ENST00000503738,;ZNF512,downstream_gene_variant,,ENST00000556601,;SNORA36,downstream_gene_variant,,ENST00000384004,;GPN1,splice_region_variant,,ENST00000461249,;RP11-158I13.2,downstream_gene_variant,,ENST00000505973,;GPN1,splice_region_variant,,ENST00000436280,;	uc010ymc.1	c.614C>T	579/1778	1	1			c.614C>T						2	SNP	c.(613-615)ACT>ATT	1	1				0	Broad	GPN-loop GTPase 1 isoform a			27861753		0.393	ENSG00000198522	6497	g.chr2:27861753C>T		cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding							2.617783	KEEP	7	5	-1	77	58	7	5	-1	24.866303	77	58	0.085937	1	0	0	0	0	1	0	0	0	--	--		0	T			GPN1_uc010ezf.2_Missense_Mutation_p.T179I|GPN1_uc010yma.1_Missense_Mutation_p.T112I|GPN1_uc010ymb.1_Missense_Mutation_p.T96I|GPN1_uc010ymd.1_Missense_Mutation_p.T86I|GPN1_uc010yme.1_Missense_Mutation_p.T205I|GPN1_uc010ezg.1_Missense_Mutation_p.T86I	223	GBM-28-5216-TP	p.T205I	C	CTGGTACAGACTGACATCATT	NM_007266	NP_009197	27861753	Q9HCN4	GPN1_HUMAN	0			9	635	+	T	T			Missense_Mutation	191						
GPNMB	0	broad.mit.edu	GRCh37	7	23309680	23309680	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-0821-01	TCGA-12-0821-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381990.2:c.1351C>T	p.Leu451=	p.L451=	ENST00000381990	NM_002510.2	451	Ctg/Ttg	0			1			T	L	uc003swc.2	protein_coding	YES	CCDS34610.1			1351/1719									ovary(3)|breast(2)	5	c.(1351-1353)CTG>TTG			hmmpanther:PTHR11861,hmmpanther:PTHR11861:SF11	glycoprotein (transmembrane) nmb isoform a				ENSP00000371420		11-Sep									COSM3411941	11-Sep	.		ENST00000381990	Transcript			negative regulation of cell proliferation	melanosome		ENSG00000136235	g.chr7:23309680C>T	4462			LOW								--	--	1																																		GPNMB_uc003swb.2_Silent_p.L439L|GPNMB_uc011jyy.1_Silent_p.L393L|GPNMB_uc011jyz.1_Silent_p.L340L	1	1			p.L451L	NM_001005340	NP_001005340			1	GPNMB_HUMAN	GPNMB	HGNC	Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)				9	1512	+			UPI000007158E	451			Extracellular (Potential).		SNV	GPNMB,synonymous_variant,p.=,ENST00000258733,;GPNMB,synonymous_variant,p.=,ENST00000381990,NM_002510.2,NM_001005340.1;GPNMB,synonymous_variant,p.=,ENST00000453162,;GPNMB,synonymous_variant,p.=,ENST00000539136,;GPNMB,non_coding_transcript_exon_variant,,ENST00000470994,;GPNMB,upstream_gene_variant,,ENST00000478451,;GPNMB,upstream_gene_variant,,ENST00000463011,;GPNMB,non_coding_transcript_exon_variant,,ENST00000479625,;GPNMB,upstream_gene_variant,,ENST00000468723,;	uc003swc.2	c.1351C>T	1512/2763	2	2			c.1351C>T						7	SNP	c.(1351-1353)CTG>TTG	26	26			ovary(3)|breast(2)	5	Broad	glycoprotein (transmembrane) nmb isoform a			23309680		0.557	ENSG00000136235	6500	g.chr7:23309680C>T	negative regulation of cell proliferation	melanosome								321.71992	KEEP	66	49	-1	149	92	66	49	-1	330.285247	149	92	0.330357	1	0	0	0	0	0	0	1	0	--	--		0	T			GPNMB_uc003swb.2_Silent_p.L439L|GPNMB_uc011jyy.1_Silent_p.L393L|GPNMB_uc011jyz.1_Silent_p.L340L	123	GBM-12-0821-TP	p.L451L	C	TGAGATGTGTCTGCTGACTGT	NM_001005340	NP_001005340	23309680	Q14956	GPNMB_HUMAN	0	GBM - Glioblastoma multiforme(13;0.154)		9	1512	+	T	T			Silent	451			Extracellular (Potential).			
GPNMB	0	broad.mit.edu	GRCh37	7	23286464	23286464	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A			TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381990.2:c.-13G>A		*5*	ENST00000381990	NM_002510.2			0			1			A		uc003swc.2	protein_coding	YES	CCDS34610.1			-/1719									ovary(3)|breast(2)	5	c.(-14--10)CCGTG>CCATG				glycoprotein (transmembrane) nmb isoform a				ENSP00000371420		11-Jan	8.24E-06					1.50E-05			rs754508413	11-Jan	.		ENST00000381990	Transcript			negative regulation of cell proliferation	melanosome		ENSG00000136235	g.chr7:23286464G>A	4462			MODIFIER								--	--	1																																		GPNMB_uc003swa.2_Translation_Start_Site|GPNMB_uc003swb.2_Translation_Start_Site|GPNMB_uc011jyy.1_Translation_Start_Site|GPNMB_uc011jyz.1_Translation_Start_Site		1				NM_001005340	NP_001005340				GPNMB_HUMAN	GPNMB	HGNC	Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)				1	149	+			UPI000007158E						SNV	GPNMB,5_prime_UTR_variant,,ENST00000258733,;GPNMB,5_prime_UTR_variant,,ENST00000381990,NM_002510.2,NM_001005340.1;GPNMB,5_prime_UTR_variant,,ENST00000453162,;GPNMB,5_prime_UTR_variant,,ENST00000539136,;GPNMB,5_prime_UTR_variant,,ENST00000409458,;GPNMB,non_coding_transcript_exon_variant,,ENST00000487890,;GPNMB,non_coding_transcript_exon_variant,,ENST00000459927,;GPNMB,non_coding_transcript_exon_variant,,ENST00000474157,;GPNMB,intron_variant,,ENST00000465673,;GPNMB,intron_variant,,ENST00000492858,;GPNMB,upstream_gene_variant,,ENST00000492512,;	uc003swc.2	c.-12G>A	149/2763	2	2			c.-12G>A						7	SNP	c.(-14--10)CCGTG>CCATG	33	33			ovary(3)|breast(2)	5	Broad	glycoprotein (transmembrane) nmb isoform a			23286464		0.488	ENSG00000136235	6500	g.chr7:23286464G>A	negative regulation of cell proliferation	melanosome								114.742334	KEEP	23	23	-1	57	51	23	23	-1	120.614758	57	51	0.287671	1	0	0	0	0	0	0	0	0	--	--		0	A			GPNMB_uc003swa.2_Translation_Start_Site|GPNMB_uc003swb.2_Translation_Start_Site|GPNMB_uc011jyy.1_Translation_Start_Site|GPNMB_uc011jyz.1_Translation_Start_Site	142	GBM-14-1034-TP		G	GCCTGCGTCCGTGAGAATTCA	NM_001005340	NP_001005340	23286464	Q14956	GPNMB_HUMAN	0	GBM - Glioblastoma multiforme(13;0.154)		1	149	+	A	A			Translation_Start_Site							
GPR101	83550	broad.mit.edu	GRCh37	X	136113330	136113330	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0216-01	TCGA-06-0216-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298110.1:c.504C>T	p.Tyr168=	p.Y168=	ENST00000298110	NM_054021.1	168	taC/taT	0			1			A	Y	uc011mwh.1	protein_coding	YES	CCDS14662.1			504/1527									ovary(3)|lung(1)|skin(1)	5	c.(502-504)TAC>TAT			Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF2,PROSITE_profiles:PS50262	G protein-coupled receptor 101				ENSP00000298110		1-Jan	1.65E-05		0.000108						rs755317343,COSM3231809	1-Jan	.		ENST00000298110	Transcript	1			integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000165370	g.chrX:136113330G>A	14963			LOW								--	--	1																																			0,1	1			p.Y168Y	NM_054021	NP_473362			0,1	GP101_HUMAN	GPR101	HGNC	Q96P66	GP101_HUMAN					1	504	-	Acute lymphoblastic leukemia(192;0.000127)		UPI000003BCCD	168			Helical; Name=4; (Potential).		SNV	GPR101,synonymous_variant,p.=,ENST00000298110,NM_054021.1;	uc011mwh.1	c.504C>T	504/1527	2	2			c.504C>T						23	SNP	c.(502-504)TAC>TAT	30	30			ovary(3)|lung(1)|skin(1)	5	Broad	G protein-coupled receptor 101			136113330		0.607	ENSG00000165370	6502	g.chrX:136113330G>A		integral to membrane|plasma membrane	G-protein coupled receptor activity							-3.745911	KEEP	2	5	-1	41	35	2	5	-1	7.400149	41	35	0.068966	1	0	0	0	0	0	0	1	0	--	--		0	A				51	GBM-06-0216-TP	p.Y168Y	G	GGCCCCAGCCGTAGAGTGGAG	NM_054021	NP_473362	136113330	Q96P66	GP101_HUMAN	0			1	504	-	A	A	Acute lymphoblastic leukemia(192;0.000127)		Silent	168			Helical; Name=4; (Potential).			
GPR101	83550		GRCh37	X	136113427	136113427	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000298110.1:c.407C>T	p.Pro136Leu	p.P136L	ENST00000298110	NM_054021.1	136	cCt/cTt	0																																																																																																																																																																																																																																												
GPR107	0	broad.mit.edu	GRCh37	9	132842036	132842036	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-28-6450-01	TCGA-28-6450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372406.1:c.514C>G	p.Gln172Glu	p.Q172E	ENST00000372406	NM_001136557.1	172	Cag/Gag	0			1			G	Q/E	uc004bze.2	protein_coding	YES	CCDS48041.1			514/1803									upper_aerodigestive_tract(1)	1	c.(514-516)CAG>GAG			hmmpanther:PTHR21229:SF12,hmmpanther:PTHR21229	G protein-coupled receptor 107 isoform 1				ENSP00000361483		20-May									COSM3413379	20-May	.		ENST00000372406	Transcript				integral to membrane		ENSG00000148358	g.chr9:132842036C>G	17830			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=GP107_HUMAN&rb=1&re=200&var=Q172E	NA	getma.org/?cm=var&var=hg19,9,132842036,C,G&fts=all	Q172E	--	--	1																																		GPR107_uc004bzb.2_5'UTR|GPR107_uc004bzc.3_RNA|GPR107_uc011mbx.1_Missense_Mutation_p.Q172E|GPR107_uc004bzd.2_Missense_Mutation_p.Q172E	1	1		benign(0.002)	p.Q172E	NM_001136557	NP_001130029		tolerated(0.83)	1	GP107_HUMAN	GPR107	HGNC	Q5VW38	GP107_HUMAN			B7ZL93_HUMAN		5	741	+		Ovarian(14;0.000531)	UPI00004589E0	172					SNV	GPR107,missense_variant,p.Gln172Glu,ENST00000372406,NM_001136557.1;GPR107,missense_variant,p.Gln172Glu,ENST00000347136,NM_020960.4;GPR107,missense_variant,p.Gln172Glu,ENST00000372410,NM_001136558.1;GPR107,upstream_gene_variant,,ENST00000462907,;GPR107,3_prime_UTR_variant,,ENST00000493417,NM_001287346.1;	uc004bze.2	c.514C>G	1021/7353	3	3			c.514C>G						9	SNP	c.(514-516)CAG>GAG	2	2			upper_aerodigestive_tract(1)	1	Broad	G protein-coupled receptor 107 isoform 1			132842036		0.433	ENSG00000148358	6503	g.chr9:132842036C>G		integral to membrane								33.645765	KEEP	6	4	-1	7	7	6	4	-1	33.731183	7	7	0.434783	1	0	0	0	0	1	0	0	0	--	--		0	G			GPR107_uc004bzb.2_5'UTR|GPR107_uc004bzc.3_RNA|GPR107_uc011mbx.1_Missense_Mutation_p.Q172E|GPR107_uc004bzd.2_Missense_Mutation_p.Q172E	227	GBM-28-6450-TP	p.Q172E	C	CAACCAGACCCAGAAGACACA	NM_001136557	NP_001130029	132842036	Q5VW38	GP107_HUMAN	0			5	741	+	G	G		Ovarian(14;0.000531)	Missense_Mutation	172						
GPR111	0	broad.mit.edu	GRCh37	6	47647995	47647995	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs141145040	by1000genomes	TCGA-76-4927-01	TCGA-76-4927-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296862.1:c.660C>A	p.Asn220Lys	p.N220K	ENST00000296862		220	aaC/aaA	0			1			A	N/K	uc010jzj.1	protein_coding	YES				660/2127									skin(1)	1	c.(658-660)AAC>AAA			hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF54	G-protein coupled receptor 111				ENSP00000296862		6-May									COSM3411155,COSM3411156	6-May	.		ENST00000296862	Transcript			neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000164393	g.chr6:47647995C>A	18991			MODERATE		2.195	medium	getma.org/?cm=msa&ty=f&p=GP111_HUMAN&rb=201&re=389&var=N220K	NA	getma.org/?cm=var&var=hg19,6,47647995,C,A&fts=all	N220K	--	--	1																																		GPR111_uc010jzk.1_Missense_Mutation_p.N152K|GPR111_uc003oyy.2_RNA	1,1	1		probably_damaging(0.998)	p.N220K	NM_153839	NP_722581		tolerated(0.5)	1,1	GP111_HUMAN	GPR111	HGNC	Q8IZF7	GP111_HUMAN					5	661	+			UPI000007411C	220			Extracellular (Potential).		SNV	GPR111,missense_variant,p.Asn152Lys,ENST00000398742,;GPR111,missense_variant,p.Asn152Lys,ENST00000507065,;GPR111,missense_variant,p.Asn220Lys,ENST00000296862,;GPR111,missense_variant,p.Asn152Lys,ENST00000467205,NM_153839.6;	uc010jzj.1	c.660C>A	660/2127	2	2			c.660C>A						6	SNP	c.(658-660)AAC>AAA	45	45			skin(1)	1	Broad	G-protein coupled receptor 111			47647995		0.438	ENSG00000164393	6508	g.chr6:47647995C>A	neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity							-38.872301	KEEP	2	2	0.5	86	121	2	2	0.5	6.701536	86	121	0.022346	1	0	0	0	0	1	0	0	0	--	--		0	A			GPR111_uc010jzk.1_Missense_Mutation_p.N152K|GPR111_uc003oyy.2_RNA	267	GBM-76-4927-TP	p.N220K	C	TCTTACACAACATATCAACAG	NM_153839	NP_722581	47647995	Q8IZF7	GP111_HUMAN	0			5	661	+	A	A			Missense_Mutation	220			Extracellular (Potential).			
GPR112	0	broad.mit.edu	GRCh37	X	135430793	135430793	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs146283448		TCGA-06-0645-01	TCGA-06-0645-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394143.1:c.4928C>T	p.Thr1643Met	p.T1643M	ENST00000394143	NM_153834.3	1643	aCg/aTg	0	T:0	T:0	1	T:0		T	T/M	uc004ezu.1	protein_coding		CCDS35409.1			4928/9243									ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	c.(4927-4929)ACG>ATG			hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF225	G-protein coupled receptor 112		T:0	T:0.0006	ENSP00000359686	T:0	24-Apr	0.000362		0.000432			0.000501		9.90E-05	rs146283448,COSM2151291	24-Apr	common_variant		ENST00000370652	Transcript		T:0.0003	neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000156920	g.chrX:135430793C>T	18992			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=GP112_HUMAN&rb=221&re=2382&var=T1643M	NA	getma.org/?cm=var&var=hg19,X,135430793,C,T&fts=all	T1643M	--	--	1																																		GPR112_uc010nsb.1_Missense_Mutation_p.T1438M|GPR112_uc010nsc.1_Missense_Mutation_p.T1410M	0,1			possibly_damaging(0.893)	p.T1643M	NM_153834	NP_722576	T:0.001	deleterious(0)	0,1	GP112_HUMAN	GPR112	HGNC	Q8IZF6	GP112_HUMAN					6	5219	+	Acute lymphoblastic leukemia(192;0.000127)		UPI00004CEC5B	1643			Extracellular (Potential).		SNV	GPR112,missense_variant,p.Thr1643Met,ENST00000394143,NM_153834.3;GPR112,missense_variant,p.Thr1643Met,ENST00000370652,;GPR112,missense_variant,p.Thr1438Met,ENST00000412101,;GPR112,missense_variant,p.Thr1438Met,ENST00000394141,;GPR112,missense_variant,p.Thr1580Met,ENST00000287534,;	uc004ezu.1	c.4928C>T	5108/9820	2	2			c.4928C>T						23	SNP	c.(4927-4929)ACG>ATG	25	25			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Broad	G-protein coupled receptor 112			135430793		0.468	ENSG00000156920	6509	g.chrX:135430793C>T	neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			487			487	321.175931	KEEP	61	60	-1	122	121	61	60	-1	328.533752	122	121	0.34139	1	0	0	0	0	1	0	0	0	--	--		0	T			GPR112_uc010nsb.1_Missense_Mutation_p.T1438M|GPR112_uc010nsc.1_Missense_Mutation_p.T1410M	59	GBM-06-0645-TP	p.T1643M	C	ATCACACCTACGACCTTTCTC	NM_153834	NP_722576	135430793	Q8IZF6	GP112_HUMAN	0			6	5219	+	T	T	Acute lymphoblastic leukemia(192;0.000127)		Missense_Mutation	1643			Extracellular (Potential).			
GPR112	0	broad.mit.edu	GRCh37	X	135455198	135455198	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-1034-01	TCGA-14-1034-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370652.1:c.7751C>A	p.Ser2584Tyr	p.S2584Y	ENST00000370652		2584	tCc/tAc	0			1			A	S/Y	uc004ezu.1	protein_coding		CCDS35409.1			7751/9243									ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	c.(7750-7752)TCC>TAC			hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF225	G-protein coupled receptor 112				ENSP00000359686		13/24									COSM2155252	13/24	.		ENST00000370652	Transcript			neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000156920	g.chrX:135455198C>A	18992			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=GP112_HUMAN&rb=2583&re=2680&var=S2584Y	NA	getma.org/?cm=var&var=hg19,X,135455198,C,A&fts=all	S2584Y	--	--	1																																		GPR112_uc010nsb.1_Missense_Mutation_p.S2379Y	1			benign(0.4)	p.S2584Y	NM_153834	NP_722576		deleterious(0.02)	1	GP112_HUMAN	GPR112	HGNC	Q8IZF6	GP112_HUMAN					15	8042	+	Acute lymphoblastic leukemia(192;0.000127)		UPI00004CEC5B	2584			Extracellular (Potential).		SNV	GPR112,missense_variant,p.Ser2584Tyr,ENST00000394143,NM_153834.3;GPR112,missense_variant,p.Ser2584Tyr,ENST00000370652,;GPR112,missense_variant,p.Ser2379Tyr,ENST00000412101,;GPR112,missense_variant,p.Ser2379Tyr,ENST00000394141,;GPR112,missense_variant,p.Ser2382Tyr,ENST00000287534,;	uc004ezu.1	c.7751C>A	7931/9820	1	1			c.7751C>A						23	SNP	c.(7750-7752)TCC>TAC	59	59			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Broad	G-protein coupled receptor 112			135455198		0.537	ENSG00000156920	6509	g.chrX:135455198C>A	neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			487			487	379.409714	KEEP	73	81	0.525974026	190	157	73	81	0.525974026	393.382441	190	157	0.315217	1	0	0	0	0	1	0	0	0	--	--		0	A			GPR112_uc010nsb.1_Missense_Mutation_p.S2379Y	142	GBM-14-1034-TP	p.S2584Y	C	AGCATTCACTCCTATGAAGAA	NM_153834	NP_722576	135455198	Q8IZF6	GP112_HUMAN	0			15	8042	+	A	A	Acute lymphoblastic leukemia(192;0.000127)		Missense_Mutation	2584			Extracellular (Potential).			
GPR112	0	broad.mit.edu	GRCh37	X	135431775	135431775	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370652.1:c.5910C>T	p.Asp1970=	p.D1970=	ENST00000370652		1970	gaC/gaT	0			1			T	D	uc004ezu.1	protein_coding		CCDS35409.1			5910/9243									ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	c.(5908-5910)GAC>GAT			hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF225	G-protein coupled receptor 112				ENSP00000359686		24-Apr	3.29E-05					6.27E-05			rs760543724,COSM611184	24-Apr	.		ENST00000370652	Transcript			neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000156920	g.chrX:135431775C>T	18992			LOW								--	--	1																																		GPR112_uc010nsb.1_Silent_p.D1765D|GPR112_uc010nsc.1_Silent_p.D1737D	0,1				p.D1970D	NM_153834	NP_722576			0,1	GP112_HUMAN	GPR112	HGNC	Q8IZF6	GP112_HUMAN					6	6201	+	Acute lymphoblastic leukemia(192;0.000127)		UPI00004CEC5B	1970			Extracellular (Potential).		SNV	GPR112,synonymous_variant,p.=,ENST00000394143,NM_153834.3;GPR112,synonymous_variant,p.=,ENST00000370652,;GPR112,synonymous_variant,p.=,ENST00000412101,;GPR112,synonymous_variant,p.=,ENST00000394141,;GPR112,synonymous_variant,p.=,ENST00000287534,;	uc004ezu.1	c.5910C>T	6090/9820	1	1			c.5910C>T						23	SNP	c.(5908-5910)GAC>GAT	4	4			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Broad	G-protein coupled receptor 112			135431775		0.413	ENSG00000156920	6509	g.chrX:135431775C>T	neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity		p.D1970D(DMS114-Tumor)	487		p.D1970D(DMS114-Tumor)	487	194.394943	KEEP	34	33	-1	36	56	34	33	-1	194.875075	36	56	0.438356	1	0	0	0	0	0	0	1	0	--	--		0	T			GPR112_uc010nsb.1_Silent_p.D1765D|GPR112_uc010nsc.1_Silent_p.D1737D	177	GBM-19-5959-TP	p.D1970D	C	CATTGGCTGACGTTAAGCACA	NM_153834	NP_722576	135431775	Q8IZF6	GP112_HUMAN	0			6	6201	+	T	T	Acute lymphoblastic leukemia(192;0.000127)		Silent	1970			Extracellular (Potential).			
GPR112	0	broad.mit.edu	GRCh37	X	135496349	135496349	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-2495-01	TCGA-32-2495-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370652.1:c.9068G>C	p.Gly3023Ala	p.G3023A	ENST00000370652		3023	gGa/gCa	0			1			C	G/A	uc004ezu.1	protein_coding		CCDS35409.1			9068/9243									ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	c.(9067-9069)GGA>GCA				G-protein coupled receptor 112				ENSP00000359686		23/24									COSM3405995	23/24	.		ENST00000370652	Transcript			neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000156920	g.chrX:135496349G>C	18992			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=GP112_HUMAN&rb=2983&re=3080&var=G3023A	NA	getma.org/?cm=var&var=hg19,X,135496349,G,C&fts=all	G3023A	--	--	1																																		GPR112_uc010nsb.1_Missense_Mutation_p.G2818A	1			benign(0.196)	p.G3023A	NM_153834	NP_722576		deleterious(0.03)	1	GP112_HUMAN	GPR112	HGNC	Q8IZF6	GP112_HUMAN					25	9359	+	Acute lymphoblastic leukemia(192;0.000127)		UPI00004CEC5B	3023			Cytoplasmic (Potential).		SNV	GPR112,missense_variant,p.Gly3023Ala,ENST00000394143,NM_153834.3;GPR112,missense_variant,p.Gly3023Ala,ENST00000370652,;GPR112,missense_variant,p.Gly2818Ala,ENST00000412101,;GPR112,missense_variant,p.Gly2818Ala,ENST00000394141,;GPR112,missense_variant,p.Gly2742Ala,ENST00000287534,;	uc004ezu.1	c.9068G>C	9248/9820	4	4			c.9068G>C						23	SNP	c.(9067-9069)GGA>GCA	44	44			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Broad	G-protein coupled receptor 112			135496349		0.318	ENSG00000156920	6509	g.chrX:135496349G>C	neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			487			487	-109.333954	KEEP	3	2	-1	261	258	3	2	-1	10.032514	261	258	0.011468	1	0	0	0	0	1	0	0	0	--	--		0	C			GPR112_uc010nsb.1_Missense_Mutation_p.G2818A	237	GBM-32-2495-TP	p.G3023A	G	ATAAAGGTTGGATATAAACAG	NM_153834	NP_722576	135496349	Q8IZF6	GP112_HUMAN	0			25	9359	+	C	C	Acute lymphoblastic leukemia(192;0.000127)		Missense_Mutation	3023			Cytoplasmic (Potential).			
GPR113	0	broad.mit.edu	GRCh37	2	26533656	26533656	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-0173-01	TCGA-06-0173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311519.1:c.2940C>A	p.Pro980=	p.P980=	ENST00000311519	NM_001145168.1	980	ccC/ccA	0			1			T	P	uc002rhe.3	protein_coding	YES	CCDS46239.1			2940/3240									ovary(4)	4	c.(2938-2940)CCC>CCA			Pfam_domain:PF00002,Prints_domain:PR00249,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF214,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	G-protein coupled receptor 113 isoform 1				ENSP00000307831		13-Nov									COSM2150402,COSM2150401	13-Nov	.		ENST00000311519	Transcript			neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000173567	g.chr2:26533656G>T	18989			LOW								--	--	1																																		GPR113_uc010yky.1_Silent_p.P911P|GPR113_uc002rhb.1_Silent_p.P583P|GPR113_uc010eyk.1_Silent_p.P781P|GPR113_uc002rhc.1_Silent_p.P583P|GPR113_uc002rhd.1_RNA	1,1	1			p.P980P	NM_001145168	NP_001138640			1,1	GP113_HUMAN	GPR113	HGNC	Q8IZF5	GP113_HUMAN					11	2940	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		UPI000007411E	980			Helical; Name=6; (Potential).		SNV	GPR113,synonymous_variant,p.=,ENST00000333478,NM_153835.3;GPR113,synonymous_variant,p.=,ENST00000541401,;GPR113,synonymous_variant,p.=,ENST00000421160,NM_001145169.1;GPR113,synonymous_variant,p.=,ENST00000311519,NM_001145168.1;EPT1,intron_variant,,ENST00000442141,;GPR113,non_coding_transcript_exon_variant,,ENST00000459892,;GPR113,synonymous_variant,p.=,ENST00000447444,;GPR113,3_prime_UTR_variant,,ENST00000435303,;	uc002rhe.3	c.2940C>A	2940/3240	2	2			c.2940C>A						2	SNP	c.(2938-2940)CCC>CCA	35	35			ovary(4)	4	Broad	G-protein coupled receptor 113 isoform 1			26533656		0.572	ENSG00000173567	6510	g.chr2:26533656G>T	neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity							30.709633	KEEP	4	8	0.333333333	15	12	4	8	0.333333333	32.069408	15	12	0.297297	1	0	0	0	0	0	0	1	0	--	--		0	T			GPR113_uc010yky.1_Silent_p.P911P|GPR113_uc002rhb.1_Silent_p.P583P|GPR113_uc010eyk.1_Silent_p.P781P|GPR113_uc002rhc.1_Silent_p.P583P|GPR113_uc002rhd.1_RNA	36	GBM-06-0173-TP	p.P980P	G	GGCCAAAGATGGGTGTAAGAA	NM_001145168	NP_001138640	26533656	Q8IZF5	GP113_HUMAN	0			11	2940	-	T	T	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Silent	980			Helical; Name=6; (Potential).			
GPR114	0	broad.mit.edu	GRCh37	16	57609404	57609404	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01	TCGA-06-1804-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340339.4:c.1541C>T	p.Ala514Val	p.A514V	ENST00000340339	NM_153837.1	514	gCc/gTc	0			1			T	A/V	uc002elx.3	protein_coding	YES	CCDS10785.1			1541/1587									central_nervous_system(1)	1	c.(1540-1542)GCC>GTC			hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF230	G protein-coupled receptor 114 precursor				ENSP00000342981		12-Dec									COSM2152449	12-Dec	.		ENST00000340339	Transcript			neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000159618	g.chr16:57609404C>T	19010			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=GP114_HUMAN&rb=480&re=528&var=A514V	NA	getma.org/?cm=var&var=hg19,16,57609404,C,T&fts=all	A514V	--	--	1																																		GPR114_uc010vhr.1_3'UTR|GPR114_uc002ely.2_Missense_Mutation_p.A514V	1	1		benign(0.037)	p.A514V	NM_153837	NP_722579		tolerated(0.16)	1	GP114_HUMAN	GPR114	HGNC	Q8IZF4	GP114_HUMAN					12	1626	+			UPI0000039944	514			Cytoplasmic (Potential).		SNV	GPR114,missense_variant,p.Ala514Val,ENST00000340339,NM_153837.1;GPR114,missense_variant,p.Ala514Val,ENST00000349457,;GPR114,non_coding_transcript_exon_variant,,ENST00000394361,;GPR114,intron_variant,,ENST00000569839,;GPR114,non_coding_transcript_exon_variant,,ENST00000564607,;	uc002elx.3	c.1541C>T	2064/3767	2	2			c.1541C>T						16	SNP	c.(1540-1542)GCC>GTC	45	45			central_nervous_system(1)	1	Broad	G protein-coupled receptor 114 precursor			57609404		0.612	ENSG00000159618	6511	g.chr16:57609404C>T	neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity							80.176683	KEEP	11	21	-1	22	37	11	21	-1	81.543373	22	37	0.358974	1	0	0	0	0	1	0	0	0	--	--		0	T			GPR114_uc010vhr.1_3'UTR|GPR114_uc002ely.2_Missense_Mutation_p.A514V	79	GBM-06-1804-TP	p.A514V	C	GAAGCAGAGGCCAAGGCACAG	NM_153837	NP_722579	57609404	Q8IZF4	GP114_HUMAN	0			12	1626	+	T	T			Missense_Mutation	514			Cytoplasmic (Potential).			
GPR116	0	broad.mit.edu	GRCh37	6	46856078	46856078	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-12-0619-01	TCGA-12-0619-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265417.7:c.322A>G	p.Thr108Ala	p.T108A	ENST00000265417	NM_015234.4	108	Aca/Gca	0			1			C	T/A	uc003oyo.3	protein_coding		CCDS4919.1			322/4041									central_nervous_system(1)|skin(1)	2	c.(322-324)ACA>GCA			hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF272	G-protein coupled receptor 116 precursor				ENSP00000265417		21-Apr									COSM2153674	21-Apr	.		ENST00000265417	Transcript			neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000069122	g.chr6:46856078T>C	19030			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=GP116_HUMAN&rb=35&re=165&var=T108A	NA	getma.org/?cm=var&var=hg19,6,46856078,T,C&fts=all	T108A	--	--	1																																		GPR116_uc003oyp.3_Missense_Mutation_p.T108A|GPR116_uc003oyq.3_Missense_Mutation_p.T108A|GPR116_uc003oyr.2_Missense_Mutation_p.T108A	1			possibly_damaging(0.844)	p.T108A	NM_001098518	NP_001091988		deleterious(0)	1	GP116_HUMAN	GPR116	HGNC	Q8IZF2	GP116_HUMAN	Lung(136;0.192)				4	611	-			UPI000007075A	108			Extracellular (Potential).		SNV	GPR116,missense_variant,p.Thr108Ala,ENST00000283296,NM_001098518.1;GPR116,missense_variant,p.Thr108Ala,ENST00000362015,;GPR116,missense_variant,p.Thr108Ala,ENST00000265417,NM_015234.4;GPR116,missense_variant,p.Thr108Ala,ENST00000456426,;GPR116,non_coding_transcript_exon_variant,,ENST00000478711,;	uc003oyo.3	c.322A>G	556/5668	3	3			c.322A>G						6	SNP	c.(322-324)ACA>GCA	1	1			central_nervous_system(1)|skin(1)	2	Broad	G-protein coupled receptor 116 precursor			46856078		0.403	ENSG00000069122	6513	g.chr6:46856078T>C	neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	NSCLC(59;410 1274 8751 36715 50546)			NSCLC(59;410 1274 8751 36715 50546)			167.792804	KEEP	25	32	-1	51	48	25	32	-1	170.310611	51	48	0.353383	1	0	0	0	0	1	0	0	0	--	--		0	C			GPR116_uc003oyp.3_Missense_Mutation_p.T108A|GPR116_uc003oyq.3_Missense_Mutation_p.T108A|GPR116_uc003oyr.2_Missense_Mutation_p.T108A	120	GBM-12-0619-TP	p.T108A	T	TCACCTGTTGTCACATTTATG	NM_001098518	NP_001091988	46856078	Q8IZF2	GP116_HUMAN	0	Lung(136;0.192)		4	611	-	C	C			Missense_Mutation	108			Extracellular (Potential).			
GPR116	0	broad.mit.edu	GRCh37	6	46826114	46826114	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01	TCGA-27-1835-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265417.7:c.3526G>A	p.Ala1176Thr	p.A1176T	ENST00000265417	NM_015234.4	1176	Gcc/Acc	0		T:0	1	T:0		T	A/T	uc003oyo.3	protein_coding		CCDS4919.1			3526/4041									central_nervous_system(1)|skin(1)	2	c.(3526-3528)GCC>ACC			Pfam_domain:PF00002,Prints_domain:PR00249,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF272,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	G-protein coupled receptor 116 precursor		T:0		ENSP00000265417	T:0	17/21	3.29E-05					1.50E-05		0.000182	rs573068708,COSM2157211	17/21	.		ENST00000265417	Transcript		T:0.0006	neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000069122	g.chr6:46826114C>T	19030			MODERATE		1.385	low	getma.org/?cm=msa&ty=f&p=GP116_HUMAN&rb=1010&re=1262&var=A1176T	NA	getma.org/?cm=var&var=hg19,6,46826114,C,T&fts=all	A1176T	--	--	1																																		GPR116_uc011dwj.1_Missense_Mutation_p.A731T|GPR116_uc011dwk.1_Missense_Mutation_p.A605T|GPR116_uc003oyp.3_Missense_Mutation_p.A1034T|GPR116_uc003oyq.3_Missense_Mutation_p.A1176T|GPR116_uc010jzi.1_Missense_Mutation_p.A848T	0,1			benign(0.327)	p.A1176T	NM_001098518	NP_001091988	T:0.0031	deleterious(0)	0,1	GP116_HUMAN	GPR116	HGNC	Q8IZF2	GP116_HUMAN	Lung(136;0.192)				17	3815	-			UPI000007075A	1176			Helical; Name=5; (Potential).		SNV	GPR116,missense_variant,p.Ala1176Thr,ENST00000283296,NM_001098518.1;GPR116,missense_variant,p.Ala1176Thr,ENST00000362015,;GPR116,missense_variant,p.Ala1176Thr,ENST00000265417,NM_015234.4;GPR116,missense_variant,p.Ala1034Thr,ENST00000456426,;GPR116,missense_variant,p.Ala605Thr,ENST00000545669,;GPR116,downstream_gene_variant,,ENST00000498632,;	uc003oyo.3	c.3526G>A	3760/5668	2	2			c.3526G>A						6	SNP	c.(3526-3528)GCC>ACC	20	20			central_nervous_system(1)|skin(1)	2	Broad	G-protein coupled receptor 116 precursor			46826114		0.547	ENSG00000069122	6513	g.chr6:46826114C>T	neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	NSCLC(59;410 1274 8751 36715 50546)			NSCLC(59;410 1274 8751 36715 50546)			107.285297	KEEP	17	20	-1	27	28	17	20	-1	107.994008	27	28	0.404494	1	0	0	0	0	1	0	0	0	--	--		0	T			GPR116_uc011dwj.1_Missense_Mutation_p.A731T|GPR116_uc011dwk.1_Missense_Mutation_p.A605T|GPR116_uc003oyp.3_Missense_Mutation_p.A1034T|GPR116_uc003oyq.3_Missense_Mutation_p.A1176T|GPR116_uc010jzi.1_Missense_Mutation_p.A848T	194	GBM-27-1835-TP	p.A1176T	C	GCTGGGATGGCGAAAGCCAGC	NM_001098518	NP_001091988	46826114	Q8IZF2	GP116_HUMAN	0	Lung(136;0.192)		17	3815	-	T	T			Missense_Mutation	1176			Helical; Name=5; (Potential).			
GPR116	0	broad.mit.edu	GRCh37	6	46845996	46845996	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-28-2502-01	TCGA-28-2502-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265417.7:c.1183G>T	p.Gly395Cys	p.G395C	ENST00000265417	NM_015234.4	395	Ggt/Tgt	0			1			A	G/C	uc003oyo.3	protein_coding		CCDS4919.1			1183/4041									central_nervous_system(1)|skin(1)	2	c.(1183-1185)GGT>TGT			PROSITE_profiles:PS50835,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF272	G-protein coupled receptor 116 precursor				ENSP00000265417		21-Oct									COSM3411153	21-Oct	.		ENST00000265417	Transcript			neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000069122	g.chr6:46845996C>A	19030			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=GP116_HUMAN&rb=369&re=466&var=G395C	NA	getma.org/?cm=var&var=hg19,6,46845996,C,A&fts=all	G395C	--	--	1																																		GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Missense_Mutation_p.G395C|GPR116_uc010jzi.1_Missense_Mutation_p.G67C|GPR116_uc003oyr.2_Missense_Mutation_p.G395C	1			benign(0.246)	p.G395C	NM_001098518	NP_001091988		tolerated(0.05)	1	GP116_HUMAN	GPR116	HGNC	Q8IZF2	GP116_HUMAN	Lung(136;0.192)				10	1472	-			UPI000007075A	395			Ig-like 2.|Extracellular (Potential).		SNV	GPR116,missense_variant,p.Gly395Cys,ENST00000283296,NM_001098518.1;GPR116,missense_variant,p.Gly395Cys,ENST00000362015,;GPR116,missense_variant,p.Gly395Cys,ENST00000265417,NM_015234.4;GPR116,intron_variant,,ENST00000456426,;	uc003oyo.3	c.1183G>T	1417/5668	1	1			c.1183G>T						6	SNP	c.(1183-1185)GGT>TGT	60	60			central_nervous_system(1)|skin(1)	2	Broad	G-protein coupled receptor 116 precursor			46845996		0.373	ENSG00000069122	6513	g.chr6:46845996C>A	neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	NSCLC(59;410 1274 8751 36715 50546)			NSCLC(59;410 1274 8751 36715 50546)			59.242334	KEEP	15	20	0.571428571	77	80	15	20	0.571428571	75.801257	77	80	0.177515	1	0	0	0	0	1	0	0	0	--	--		0	A			GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Missense_Mutation_p.G395C|GPR116_uc010jzi.1_Missense_Mutation_p.G67C|GPR116_uc003oyr.2_Missense_Mutation_p.G395C	210	GBM-28-2502-TP	p.G395C	C	TTAACATTACCCTGACTGCAG	NM_001098518	NP_001091988	46845996	Q8IZF2	GP116_HUMAN	0	Lung(136;0.192)		10	1472	-	A	A			Missense_Mutation	395			Ig-like 2.|Extracellular (Potential).			
GPR116			GRCh37	6	46826522	46826522	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000283296.7:c.3118T>A	p.Ser1040Thr	p.S1040T	ENST00000283296	NM_001098518.1	1040	Tcg/Acg	0																																																																																																																																																																																																																																												
GPR12	0	broad.mit.edu	GRCh37	13	27332980	27332980	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381436.2:c.985C>T	p.Arg329Cys	p.R329C	ENST00000381436		329	Cgc/Tgc	0			1			A	R/C	uc010aal.2	protein_coding		CCDS9319.1			985/1005										0	c.(985-987)CGC>TGC			hmmpanther:PTHR22750:SF8,hmmpanther:PTHR22750,Superfamily_domains:SSF81321	G protein-coupled receptor 12				ENSP00000370844		1-Jan	8.24E-06			0.000116					rs753635977,COSM292999	1-Jan	.		ENST00000381436	Transcript				integral to plasma membrane		ENSG00000132975	g.chr13:27332980G>A	4466			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=GPR12_HUMAN&rb=302&re=334&var=R329C	NA	getma.org/?cm=var&var=hg19,13,27332980,G,A&fts=all	R329C	--	--	1																																		GPR12_uc010tdl.1_Missense_Mutation_p.R170C	0,1			benign(0.11)	p.R329C	NM_005288	NP_005279		deleterious(0.01)	0,1	GPR12_HUMAN	GPR12	HGNC	P47775	GPR12_HUMAN		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)	B4DG25_HUMAN,A8K2F5_HUMAN		2	1207	-	Colorectal(5;5.77e-05)	Breast(139;0.198)	UPI000003EC24	329			Cytoplasmic (Potential).		SNV	GPR12,missense_variant,p.Arg329Cys,ENST00000405846,NM_005288.3;GPR12,missense_variant,p.Arg329Cys,ENST00000381436,;	uc010aal.2	c.985C>T	1448/1981	1	1			c.985C>T						13	SNP	c.(985-987)CGC>TGC	52	52				0	Broad	G protein-coupled receptor 12			27332980		0.537	ENSG00000132975	6515	g.chr13:27332980G>A		integral to plasma membrane								95.558683	KEEP	9	22	-1	20	16	9	22	-1	95.558683	20	16	0.5	1	0	0	0	0	1	0	0	0	--	--		0	A			GPR12_uc010tdl.1_Missense_Mutation_p.R170C	270	GBM-76-4931-TP	p.R329C	G	CTGGGCGAGCGCGCTCTCTGG	NM_005288	NP_005279	27332980	P47775	GPR12_HUMAN	0		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)	2	1207	-	A	A	Colorectal(5;5.77e-05)	Breast(139;0.198)	Missense_Mutation	329			Cytoplasmic (Potential).			
GPR126	0	broad.mit.edu	GRCh37	6	142736937	142736937	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0152-01	TCGA-06-0152-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367609.3:c.2674T>C	p.Leu892=	p.L892=	ENST00000367609	NM_198569.2	892	Ttg/Ctg	0			1			C	L	uc010khc.2	protein_coding		CCDS47490.1			2674/3666									ovary(1)	1	c.(2674-2676)TTG>CTG			PROSITE_profiles:PS50261,hmmpanther:PTHR12011:SF47,hmmpanther:PTHR12011,Pfam_domain:PF00002,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	G protein-coupled receptor 126 alpha 1				ENSP00000230173		20/26									COSM2149856,COSM2149855	20/26	.		ENST00000230173	Transcript	1		neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000112414	g.chr6:142736937T>C	13841			LOW								--	--	1																																		GPR126_uc010khd.2_Silent_p.L864L|GPR126_uc010khe.2_Silent_p.L892L|GPR126_uc010khf.2_Silent_p.L864L	1,1				p.L892L	NM_020455	NP_065188			1,1	GP126_HUMAN	GPR126	HGNC	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	F5H2L1_HUMAN		20	3085	+	Breast(32;0.176)		UPI000046FFCF	892			Cytoplasmic (Potential).		SNV	GPR126,synonymous_variant,p.=,ENST00000230173,NM_020455.5;GPR126,synonymous_variant,p.=,ENST00000367609,NM_198569.2;GPR126,synonymous_variant,p.=,ENST00000367608,NM_001032395.2;GPR126,synonymous_variant,p.=,ENST00000296932,NM_001032394.2;GPR126,upstream_gene_variant,,ENST00000472054,;GPR126,downstream_gene_variant,,ENST00000540208,;	uc010khc.2	c.2674T>C	3150/7026	3	3			c.2674T>C						6	SNP	c.(2674-2676)TTG>CTG	12	12			ovary(1)	1	Broad	G protein-coupled receptor 126 alpha 1			142736937		0.403	ENSG00000112414	6520	g.chr6:142736937T>C	neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity							156.934148	KEEP	32	18	-1	37	40	32	18	-1	158.100363	37	40	0.393162	1	0	0	0	0	0	0	1	0	--	--		0	C			GPR126_uc010khd.2_Silent_p.L864L|GPR126_uc010khe.2_Silent_p.L892L|GPR126_uc010khf.2_Silent_p.L864L	25	GBM-06-0152-TP	p.L892L	T	TTTTAGGAAATTGCGAAGGGA	NM_020455	NP_065188	142736937	Q86SQ4	GP126_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	20	3085	+	C	C	Breast(32;0.176)		Silent	892			Cytoplasmic (Potential).			
GPR126			GRCh37	6	142736934	142736934	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000367609.3:c.2673del	p.Lys891AsnfsTer11	p.K891Nfs*11	ENST00000367609	NM_198569.2	891	Aaa/aa	0																																																																																																																																																																																																																																												
GPR128	0	broad.mit.edu	GRCh37	3	100365559	100365559	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-28-2502-01	TCGA-28-2502-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273352.3:c.1257T>C	p.Ala419=	p.A419=	ENST00000273352	NM_032787.2	419	gcT/gcC	0			1			C	A	uc003duc.2	protein_coding	YES	CCDS2938.1			1257/2394									ovary(3)|skin(1)	4	c.(1255-1257)GCT>GCC			Pfam_domain:PF01825,PROSITE_profiles:PS50221,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF43,SMART_domains:SM00303	G protein-coupled receptor 128 precursor				ENSP00000273352		16-Oct									COSM3408065	16-Oct	.		ENST00000273352	Transcript			neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000144820	g.chr3:100365559T>C	19241			LOW								--	--	1																																		GPR128_uc011bhc.1_Silent_p.A120A	1	1			p.A419A	NM_032787	NP_116176			1	GP128_HUMAN	GPR128	HGNC	Q96K78	GP128_HUMAN			Q6ZMH0_HUMAN		10	1525	+			UPI000004B6DF	419			GPS.|Extracellular (Potential).		SNV	GPR128,synonymous_variant,p.=,ENST00000273352,NM_032787.2;GPR128,synonymous_variant,p.=,ENST00000475887,;SNORA31,downstream_gene_variant,,ENST00000517180,;GPR128,downstream_gene_variant,,ENST00000481361,;	uc003duc.2	c.1257T>C	1525/3140	3	3			c.1257T>C						3	SNP	c.(1255-1257)GCT>GCC	62	62			ovary(3)|skin(1)	4	Broad	G protein-coupled receptor 128 precursor			100365559		0.413	ENSG00000144820	6521	g.chr3:100365559T>C	neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	Pancreas(87;185 1975 7223 18722)			Pancreas(87;185 1975 7223 18722)			70.061769	KEEP	15	25	-1	48	69	15	25	-1	77.650094	48	69	0.232759	1	0	0	0	0	0	0	1	0	--	--		0	C			GPR128_uc011bhc.1_Silent_p.A120A	210	GBM-28-2502-TP	p.A419A	T	CTAATTTTGCTGTATTAATGG	NM_032787	NP_116176	100365559	Q96K78	GP128_HUMAN	0			10	1525	+	C	C			Silent	419			GPS.|Extracellular (Potential).			
GPR128	0	broad.mit.edu	GRCh37	3	100349573	100349573	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-5214-01	TCGA-28-5214-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273352.3:c.254A>G	p.Tyr85Cys	p.Y85C	ENST00000273352	NM_032787.2	85	tAt/tGt	0			1			G	Y/C	uc003duc.2	protein_coding	YES	CCDS2938.1			254/2394									ovary(3)|skin(1)	4	c.(253-255)TAT>TGT			hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF43	G protein-coupled receptor 128 precursor				ENSP00000273352		16-Mar	8.24E-06	0.0001							rs771209708,COSM3408064	16-Mar	.		ENST00000273352	Transcript			neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000144820	g.chr3:100349573A>G	19241			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=GP128_HUMAN&rb=1&re=200&var=Y85C	NA	getma.org/?cm=var&var=hg19,3,100349573,A,G&fts=all	Y85C	--	--	1																																			0,1	1		possibly_damaging(0.711)	p.Y85C	NM_032787	NP_116176		tolerated(0.08)	0,1	GP128_HUMAN	GPR128	HGNC	Q96K78	GP128_HUMAN			Q6ZMH0_HUMAN		3	522	+			UPI000004B6DF	85			Extracellular (Potential).		SNV	GPR128,missense_variant,p.Tyr85Cys,ENST00000273352,NM_032787.2;GPR128,upstream_gene_variant,,ENST00000475887,;GPR128,upstream_gene_variant,,ENST00000481361,;GPR128,upstream_gene_variant,,ENST00000493081,;	uc003duc.2	c.254A>G	522/3140	3	3			c.254A>G						3	SNP	c.(253-255)TAT>TGT	10	10			ovary(3)|skin(1)	4	Broad	G protein-coupled receptor 128 precursor			100349573		0.318	ENSG00000144820	6521	g.chr3:100349573A>G	neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	Pancreas(87;185 1975 7223 18722)			Pancreas(87;185 1975 7223 18722)			179.820701	KEEP	26	26	-1	43	26	26	26	-1	180.115065	43	26	0.443396	1	0	0	0	0	1	0	0	0	--	--		0	G				221	GBM-28-5214-TP	p.Y85C	A	AATAGTACCTATATGGGTTTT	NM_032787	NP_116176	100349573	Q96K78	GP128_HUMAN	0			3	522	+	G	G			Missense_Mutation	85			Extracellular (Potential).			
GPR132	29933	broad.mit.edu	GRCh37	14	105517549	105517549	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329797.3:c.925G>A	p.Val309Met	p.V309M	ENST00000329797	NM_013345.3	309	Gtg/Atg	0			1			T	V/M	uc001yqd.2	protein_coding	YES	CCDS9997.1			925/1143									ovary(2)|central_nervous_system(1)	3	c.(925-927)GTG>ATG			Transmembrane_helices:TMhelix,hmmpanther:PTHR24237,hmmpanther:PTHR24237:SF2,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	G protein-coupled receptor 132				ENSP00000328818		4-Apr	3.29E-05					1.50E-05		0.000182	rs757850974,COSM2149392	4-Apr	.		ENST00000329797	Transcript			response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000183484	g.chr14:105517549C>T	17482			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=GP132_HUMAN&rb=309&re=380&var=V309M	NA	getma.org/?cm=var&var=hg19,14,105517549,C,T&fts=all	V309M	--	--	1																																		GPR132_uc001yqc.2_Missense_Mutation_p.V121M|GPR132_uc001yqe.2_Missense_Mutation_p.V300M	0,1	1		possibly_damaging(0.593)	p.V309M	NM_013345	NP_037477		tolerated(0.06)	0,1	GP132_HUMAN	GPR132	HGNC	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	A8K7X7_HUMAN		4	1824	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	UPI0000050461	309			Helical; Name=7; (Potential).		SNV	GPR132,missense_variant,p.Val309Met,ENST00000329797,NM_013345.3,NM_001278696.1,NM_001278694.1;GPR132,missense_variant,p.Val300Met,ENST00000392585,NM_001278695.1;GPR132,missense_variant,p.Val309Met,ENST00000539291,;GPR132,downstream_gene_variant,,ENST00000549990,;GPR132,downstream_gene_variant,,ENST00000546679,;GPR132,3_prime_UTR_variant,,ENST00000551869,;	uc001yqd.2	c.925G>A	1837/3658	2	2			c.925G>A						14	SNP	c.(925-927)GTG>ATG	33	33			ovary(2)|central_nervous_system(1)	3	Broad	G protein-coupled receptor 132			105517549		0.577	ENSG00000183484	6522	g.chr14:105517549C>T	response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity							101.121542	KEEP	18	19	-1	26	32	18	19	-1	102.088265	26	32	0.388889	1	0	0	0	0	1	0	0	0	--	--		0	T			GPR132_uc001yqc.2_Missense_Mutation_p.V121M|GPR132_uc001yqe.2_Missense_Mutation_p.V300M	12	GBM-06-0125-TP	p.V309M	C	GTGGCCAGCACGTAGATAATG	NM_013345	NP_037477	105517549	Q9UNW8	GP132_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	4	1824	-	T	T		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	Missense_Mutation	309			Helical; Name=7; (Potential).			
GPR132	0	broad.mit.edu	GRCh37	14	105518249	105518249	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5216-01	TCGA-28-5216-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329797.3:c.225C>T	p.Asn75=	p.N75=	ENST00000329797	NM_013345.3	75	aaC/aaT	0	A:0.0002		1			A	N	uc001yqd.2	protein_coding	YES	CCDS9997.1			225/1143									ovary(2)|central_nervous_system(1)	3	c.(223-225)AAC>AAT			PROSITE_profiles:PS50262,hmmpanther:PTHR24237,hmmpanther:PTHR24237:SF2,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	G protein-coupled receptor 132			A:0	ENSP00000328818		4-Apr	4.12E-05			0.00058					rs371334440,COSM3401168	4-Apr	common_variant		ENST00000329797	Transcript			response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000183484	g.chr14:105518249G>A	17482			LOW								--	--	1																																		GPR132_uc001yqc.2_Translation_Start_Site|GPR132_uc001yqe.2_Silent_p.N66N	0,1	1			p.N75N	NM_013345	NP_037477			0,1	GP132_HUMAN	GPR132	HGNC	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	A8K7X7_HUMAN		4	1124	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	UPI0000050461	75			Cytoplasmic (Potential).		SNV	GPR132,synonymous_variant,p.=,ENST00000329797,NM_013345.3,NM_001278696.1,NM_001278694.1;GPR132,synonymous_variant,p.=,ENST00000392585,NM_001278695.1;GPR132,synonymous_variant,p.=,ENST00000539291,;GPR132,downstream_gene_variant,,ENST00000549990,;GPR132,non_coding_transcript_exon_variant,,ENST00000546679,;GPR132,3_prime_UTR_variant,,ENST00000551869,;	uc001yqd.2	c.225C>T	1137/3658	2	2			c.225C>T						14	SNP	c.(223-225)AAC>AAT	21	21			ovary(2)|central_nervous_system(1)	3	Broad	G protein-coupled receptor 132			105518249		0.647	ENSG00000183484	6522	g.chr14:105518249G>A	response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity							203.929503	KEEP	35	37	-1	7	6	35	37	-1	214.431865	7	6	0.871795	1	0	0	0	0	0	0	1	0	--	--		0	A			GPR132_uc001yqc.2_Translation_Start_Site|GPR132_uc001yqe.2_Silent_p.N66N	223	GBM-28-5216-TP	p.N75N	G	CGGCCAGCACGTTGCCCTGCA	NM_013345	NP_037477	105518249	Q9UNW8	GP132_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	4	1124	-	A	A		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	Silent	75			Cytoplasmic (Potential).			
GPR133	0	broad.mit.edu	GRCh37	12	131487816	131487816	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0648-01	TCGA-06-0648-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261654.5:c.1113G>T	p.Gln371His	p.Q371H	ENST00000261654	NM_198827.3	371	caG/caT	0			1			T	Q/H	uc001uit.3	protein_coding	YES	CCDS9272.1			1113/2625									pancreas(5)|ovary(3)|skin(2)	10	c.(1111-1113)CAG>CAT			hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF216	G protein-coupled receptor 133 precursor				ENSP00000261654		25-Oct									COSM333867	25-Oct	.		ENST00000261654	Transcript			neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000111452	g.chr12:131487816G>T	19893			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=GP133_HUMAN&rb=242&re=441&var=Q371H	NA	getma.org/?cm=var&var=hg19,12,131487816,G,T&fts=all	Q371H	--	--	1																																		GPR133_uc010tbm.1_Missense_Mutation_p.Q403H	1	1		benign(0.002)	p.Q371H	NM_198827	NP_942122		tolerated(0.29)	1	GP133_HUMAN	GPR133	HGNC	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	F5H4Y0_HUMAN,B2CKK9_HUMAN		10	1672	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		UPI0000241C7A	371			Extracellular (Potential).		SNV	GPR133,missense_variant,p.Gln371His,ENST00000261654,NM_198827.3;GPR133,missense_variant,p.Gln57His,ENST00000376682,;GPR133,missense_variant,p.Gln403His,ENST00000535015,;GPR133,missense_variant,p.Gln67His,ENST00000545900,;GPR133,missense_variant,p.Gln62His,ENST00000544673,;	uc001uit.3	c.1113G>T	1672/5168	2	2			c.1113G>T						12	SNP	c.(1111-1113)CAG>CAT	24	24			pancreas(5)|ovary(3)|skin(2)	10	Broad	G protein-coupled receptor 133 precursor			131487816		0.617	ENSG00000111452	6523	g.chr12:131487816G>T	neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity							211.852255	KEEP	40	34	0.540540541	46	49	40	34	0.540540541	212.173032	46	49	0.45098	1	0	0	0	0	1	0	0	0	--	--		0	T			GPR133_uc010tbm.1_Missense_Mutation_p.Q403H	61	GBM-06-0648-TP	p.Q371H	G	GCACGCCCCAGGTCACCGTGG	NM_198827	NP_942122	131487816	Q6QNK2	GP133_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	10	1672	+	T	T	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		Missense_Mutation	371			Extracellular (Potential).			
GPR133	0	broad.mit.edu	GRCh37	12	131487822	131487822	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261654.5:c.1119C>T	p.Thr373=	p.T373=	ENST00000261654	NM_198827.3	373	acC/acT	0		T:0	1	T:0		T	T	uc001uit.3	protein_coding	YES	CCDS9272.1			1119/2625									pancreas(5)|ovary(3)|skin(2)	10	c.(1117-1119)ACC>ACT			hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF216	G protein-coupled receptor 133 precursor		T:0		ENSP00000261654	T:0.001	25-Oct	4.12E-05		0.000173			4.50E-05			rs549833008,COSM3398530	25-Oct	.		ENST00000261654	Transcript		T:0.0002	neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000111452	g.chr12:131487822C>T	19893			LOW								--	--	1																																		GPR133_uc010tbm.1_Silent_p.T405T	0,1	1			p.T373T	NM_198827	NP_942122	T:0		0,1	GP133_HUMAN	GPR133	HGNC	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	F5H4Y0_HUMAN,B2CKK9_HUMAN		10	1678	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		UPI0000241C7A	373			Extracellular (Potential).		SNV	GPR133,synonymous_variant,p.=,ENST00000261654,NM_198827.3;GPR133,synonymous_variant,p.=,ENST00000376682,;GPR133,synonymous_variant,p.=,ENST00000535015,;GPR133,synonymous_variant,p.=,ENST00000545900,;GPR133,synonymous_variant,p.=,ENST00000544673,;	uc001uit.3	c.1119C>T	1678/5168	1	1			c.1119C>T						12	SNP	c.(1117-1119)ACC>ACT	9	9			pancreas(5)|ovary(3)|skin(2)	10	Broad	G protein-coupled receptor 133 precursor			131487822		0.612	ENSG00000111452	6523	g.chr12:131487822C>T	neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity							172.256435	KEEP	26	34	-1	39	31	26	34	-1	172.302456	39	31	0.478992	1	0	0	0	0	0	0	1	0	--	--		0	T			GPR133_uc010tbm.1_Silent_p.T405T	65	GBM-06-0743-TP	p.T373T	C	CCCAGGTCACCGTGGAGGGCT	NM_198827	NP_942122	131487822	Q6QNK2	GP133_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	10	1678	+	T	T	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		Silent	373			Extracellular (Potential).			
GPR133	0	broad.mit.edu	GRCh37	12	131622720	131622720	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0749-01	TCGA-06-0749-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261654.5:c.2475G>A	p.Ser825=	p.S825=	ENST00000261654	NM_198827.3	825	tcG/tcA	0			1			A	S	uc001uit.3	protein_coding	YES	CCDS9272.1			2475/2625									pancreas(5)|ovary(3)|skin(2)	10	c.(2473-2475)TCG>TCA			hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF216,Superfamily_domains:SSF81321	G protein-coupled receptor 133 precursor				ENSP00000261654		24/25	8.24E-06				0.000151				rs754268247,COSM3398532	24/25	.		ENST00000261654	Transcript			neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000111452	g.chr12:131622720G>A	19893			LOW								--	--	1																																		GPR133_uc010tbm.1_Silent_p.S857S|GPR133_uc009zyo.2_Silent_p.S107S|GPR133_uc009zyp.2_RNA	0,1	1			p.S825S	NM_198827	NP_942122			0,1	GP133_HUMAN	GPR133	HGNC	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	F5H4Y0_HUMAN,B2CKK9_HUMAN		24	3034	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		UPI0000241C7A	825			Cytoplasmic (Potential).		SNV	GPR133,synonymous_variant,p.=,ENST00000261654,NM_198827.3;GPR133,synonymous_variant,p.=,ENST00000376682,;GPR133,synonymous_variant,p.=,ENST00000335486,;GPR133,synonymous_variant,p.=,ENST00000535015,;GPR133,synonymous_variant,p.=,ENST00000543617,;GPR133,non_coding_transcript_exon_variant,,ENST00000540207,;GPR133,non_coding_transcript_exon_variant,,ENST00000446583,;GPR133,downstream_gene_variant,,ENST00000537489,;	uc001uit.3	c.2475G>A	3034/5168	2	2			c.2475G>A						12	SNP	c.(2473-2475)TCG>TCA	48	48			pancreas(5)|ovary(3)|skin(2)	10	Broad	G protein-coupled receptor 133 precursor			131622720		0.597	ENSG00000111452	6523	g.chr12:131622720G>A	neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity							10.874485	KEEP	6	2	-1	31	26	6	2	-1	19.169676	31	26	0.129032	1	0	0	0	0	0	0	1	0	--	--		0	A			GPR133_uc010tbm.1_Silent_p.S857S|GPR133_uc009zyo.2_Silent_p.S107S|GPR133_uc009zyp.2_RNA	69	GBM-06-0749-TP	p.S825S	G	AGGTCTGGTCGCTCACGAGCA	NM_198827	NP_942122	131622720	Q6QNK2	GP133_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	24	3034	+	A	A	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		Silent	825			Cytoplasmic (Potential).			
GPR133	0	broad.mit.edu	GRCh37	12	131487809	131487809	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs142314859		TCGA-06-2559-01	TCGA-06-2559-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261654.5:c.1106C>T	p.Thr369Met	p.T369M	ENST00000261654	NM_198827.3	369	aCg/aTg	0	T:0.0002		1			T	T/M	uc001uit.3	protein_coding	YES	CCDS9272.1			1106/2625									pancreas(5)|ovary(3)|skin(2)	10	c.(1105-1107)ACG>ATG			hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF216	G protein-coupled receptor 133 precursor			T:0	ENSP00000261654		25-Oct	8.24E-05	9.62E-05	8.64E-05			3.00E-05		0.000363	rs142314859,COSM2152707	25-Oct	.		ENST00000261654	Transcript			neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000111452	g.chr12:131487809C>T	19893			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=GP133_HUMAN&rb=242&re=441&var=T369M	NA	getma.org/?cm=var&var=hg19,12,131487809,C,T&fts=all	T369M	--	--	1																																		GPR133_uc010tbm.1_Missense_Mutation_p.T401M	0,1	1		benign(0.2)	p.T369M	NM_198827	NP_942122		deleterious(0.05)	0,1	GP133_HUMAN	GPR133	HGNC	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	F5H4Y0_HUMAN,B2CKK9_HUMAN		10	1665	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		UPI0000241C7A	369			Extracellular (Potential).		SNV	GPR133,missense_variant,p.Thr369Met,ENST00000261654,NM_198827.3;GPR133,missense_variant,p.Thr55Met,ENST00000376682,;GPR133,missense_variant,p.Thr401Met,ENST00000535015,;GPR133,missense_variant,p.Thr65Met,ENST00000545900,;GPR133,missense_variant,p.Thr60Met,ENST00000544673,;	uc001uit.3	c.1106C>T	1665/5168	2	2			c.1106C>T						12	SNP	c.(1105-1107)ACG>ATG	29	29			pancreas(5)|ovary(3)|skin(2)	10	Broad	G protein-coupled receptor 133 precursor			131487809		0.622	ENSG00000111452	6523	g.chr12:131487809C>T	neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity							78.665911	KEEP	19	18	-1	57	49	19	18	-1	85.229157	57	49	0.258065	1	0	0	0	0	1	0	0	0	--	--		0	T			GPR133_uc010tbm.1_Missense_Mutation_p.T401M	83	GBM-06-2559-TP	p.T369M	C	CACGGCAGCACGCCCCAGGTC	NM_198827	NP_942122	131487809	Q6QNK2	GP133_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	10	1665	+	T	T	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		Missense_Mutation	369			Extracellular (Potential).			
GPR133	0	broad.mit.edu	GRCh37	12	131475583	131475583	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01	TCGA-19-2620-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261654.5:c.770C>T	p.Thr257Met	p.T257M	ENST00000261654	NM_198827.3	257	aCg/aTg	0		T:0.0008	1	T:0		T	T/M	uc001uit.3	protein_coding	YES	CCDS9272.1			770/2625									pancreas(5)|ovary(3)|skin(2)	10	c.(769-771)ACG>ATG			hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF216	G protein-coupled receptor 133 precursor		T:0		ENSP00000261654	T:0	25-Jul	8.24E-05	9.62E-05	0.000173			6.00E-05		0.000182	rs535355861,COSM1662038	25-Jul	.		ENST00000261654	Transcript		T:0.0002	neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000111452	g.chr12:131475583C>T	19893			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=GP133_HUMAN&rb=242&re=441&var=T257M	NA	getma.org/?cm=var&var=hg19,12,131475583,C,T&fts=all	T257M	--	--	1																																		GPR133_uc010tbm.1_Missense_Mutation_p.T289M	0,1	1		benign(0.4)	p.T257M	NM_198827	NP_942122	T:0	deleterious(0)	0,1	GP133_HUMAN	GPR133	HGNC	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	F5H4Y0_HUMAN,B2CKK9_HUMAN		7	1329	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		UPI0000241C7A	257			Extracellular (Potential).		SNV	GPR133,missense_variant,p.Thr257Met,ENST00000261654,NM_198827.3;GPR133,missense_variant,p.Thr289Met,ENST00000535015,;GPR133,missense_variant,p.Thr197Met,ENST00000542091,;GPR133,missense_variant,p.Thr16Met,ENST00000537600,;GPR133,upstream_gene_variant,,ENST00000545900,;GPR133,upstream_gene_variant,,ENST00000544673,;RP11-76C10.5,non_coding_transcript_exon_variant,,ENST00000542980,;RP11-76C10.5,non_coding_transcript_exon_variant,,ENST00000536673,;GPR133,downstream_gene_variant,,ENST00000541143,;	uc001uit.3	c.770C>T	1329/5168	1	1			c.770C>T						12	SNP	c.(769-771)ACG>ATG	11	11			pancreas(5)|ovary(3)|skin(2)	10	Broad	G protein-coupled receptor 133 precursor			131475583		0.478	ENSG00000111452	6523	g.chr12:131475583C>T	neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity							31.316733	KEEP	9	2	-1	10	10	9	2	-1	31.785806	10	10	0.366667	1	0	0	0	0	1	0	0	0	--	--		0	T			GPR133_uc010tbm.1_Missense_Mutation_p.T289M	162	GBM-19-2620-TP	p.T257M	C	TTGTCTTCAACGCTGCCAAGC	NM_198827	NP_942122	131475583	Q6QNK2	GP133_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	7	1329	+	T	T	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		Missense_Mutation	257			Extracellular (Potential).			
GPR137	0	broad.mit.edu	GRCh37	11	64056613	64056613	+	splice_acceptor_variant	Splice_Site	SNP	A	A	C			TCGA-76-4926-01	TCGA-76-4926-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313074.3:c.1032-2A>C		p.X344_splice	ENST00000313074	NM_020155.3			0			1			C		uc001nzg.1	protein_coding		CCDS8066.1			1032/1254									central_nervous_system(1)	1	c.e8-2				G protein-coupled receptor 137				ENSP00000321698											COSM3398012,COSM3398013		.		ENST00000313074	Transcript				integral to membrane		ENSG00000173264	g.chr11:64056613A>C	24300			HIGH	6-Jun							--	--	1																																		GPR137_uc010rni.1_Splice_Site_p.R402_splice|GPR137_uc001nzf.2_Missense_Mutation_p.Q329P|GPR137_uc001nzi.2_Missense_Mutation_p.Q379P|GPR137_uc010rnj.1_3'UTR|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank|KCNK4_uc001nzl.1_5'Flank|KCNK4_uc001nzm.3_5'Flank|KCNK4_uc001nzn.1_5'Flank	1,1				p.R344_splice	NM_020155	NP_064540			1,1	G137A_HUMAN	GPR137	HGNC	Q96N19	G137A_HUMAN			F5H7S0_HUMAN,F5H4R8_HUMAN,F5H1V9_HUMAN,F5H1T3_HUMAN,F5H0Q1_HUMAN,F5GXW8_HUMAN,F5GXI8_HUMAN		8	1340	+			UPI000013EC96						SNV	GPR137,splice_acceptor_variant,,ENST00000411458,NM_001170726.1;GPR137,splice_acceptor_variant,,ENST00000313074,NM_020155.3;GPR137,missense_variant,p.Gln379Pro,ENST00000438980,NM_001170880.1;GPR137,missense_variant,p.Gln329Pro,ENST00000377702,NM_001170881.1;GPR137,missense_variant,p.Gln71Pro,ENST00000536282,;GPR137,3_prime_UTR_variant,,ENST00000539851,NM_001177358.1;KCNK4,upstream_gene_variant,,ENST00000539216,;KCNK4,upstream_gene_variant,,ENST00000422670,NM_033310.2;KCNK4,upstream_gene_variant,,ENST00000394525,;KCNK4,upstream_gene_variant,,ENST00000538767,;GPR137,downstream_gene_variant,,ENST00000546139,;BAD,upstream_gene_variant,,ENST00000394532,NM_004322.3;GPR137,downstream_gene_variant,,ENST00000539833,;BAD,upstream_gene_variant,,ENST00000309032,NM_032989.2;GPR137,downstream_gene_variant,,ENST00000543383,;GPR137,downstream_gene_variant,,ENST00000536667,;BAD,upstream_gene_variant,,ENST00000394531,;GPR137,downstream_gene_variant,,ENST00000538032,;GPR137,downstream_gene_variant,,ENST00000535675,;GPR137,downstream_gene_variant,,ENST00000540370,;BAD,upstream_gene_variant,,ENST00000544785,;GPR137,downstream_gene_variant,,ENST00000541952,;GPR137,downstream_gene_variant,,ENST00000542190,;GPR137,downstream_gene_variant,,ENST00000538244,;RP11-783K16.10,upstream_gene_variant,,ENST00000539086,;KCNK4,upstream_gene_variant,,ENST00000539651,;KCNK4,upstream_gene_variant,,ENST00000541349,;GPR137,downstream_gene_variant,,ENST00000536017,;KCNK4,upstream_gene_variant,,ENST00000453423,;KCNK4,upstream_gene_variant,,ENST00000538846,;GPR137,downstream_gene_variant,,ENST00000546201,;BAD,upstream_gene_variant,,ENST00000544271,;KCNK4,upstream_gene_variant,,ENST00000545838,;GPR137,downstream_gene_variant,,ENST00000545366,;	uc001nzg.1	c.1032_splice	-/1485	5	3			c.1032_splice						11	SNP	c.e8-2	7	7			central_nervous_system(1)	1	Broad	G protein-coupled receptor 137			64056613		0.657	ENSG00000173264	6525	g.chr11:64056613A>C		integral to membrane				60			60	147.741919	KEEP	34	26	-1	46	44	34	26	-1	149.161572	46	44	0.387597	1	0	0	0	0	0	0	0	1	--	--		0	C			GPR137_uc010rni.1_Splice_Site_p.R402_splice|GPR137_uc001nzf.2_Missense_Mutation_p.Q329P|GPR137_uc001nzi.2_Missense_Mutation_p.Q379P|GPR137_uc010rnj.1_3'UTR|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank|KCNK4_uc001nzl.1_5'Flank|KCNK4_uc001nzm.3_5'Flank|KCNK4_uc001nzn.1_5'Flank	266	GBM-76-4926-TP	p.R344_splice	A	CTCTTCTCCCAGGTGCCAGGA	NM_020155	NP_064540	64056613	Q96N19	G137A_HUMAN	0			8	1340	+	C	C			Splice_Site							
GPR137B	7107		GRCh37	1	236343286	236343286	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000366592.3:c.795C>T	p.Ser265=	p.S265=	ENST00000366592	NM_003272.3	265	agC/agT	0																																																																																																																																																																																																																																												
GPR139	124274	broad.mit.edu	GRCh37	16	20043354	20043354	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0169-01	TCGA-06-0169-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000570682.1:c.765G>A	p.Ala255=	p.A255=	ENST00000570682	NM_001002911.2	255	gcG/gcA	0			1			T	A	uc002dgu.1	protein_coding	YES	CCDS32398.1			765/1062									ovary(2)	2	c.(763-765)GCG>GCA			PROSITE_profiles:PS50262,hmmpanther:PTHR22751:SF49,hmmpanther:PTHR22751,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	G protein-coupled receptor 139				ENSP00000458791		2-Feb									COSM2129367	2-Feb	.		ENST00000570682	Transcript				integral to membrane|plasma membrane		ENSG00000180269	g.chr16:20043354C>T	19995			LOW								--	--	1																																		GPR139_uc010vaw.1_Silent_p.A162A	1	1			p.A255A	NM_001002911	NP_001002911			1	GP139_HUMAN	GPR139	HGNC	Q6DWJ6	GP139_HUMAN					2	927	-			UPI000004C566	255			Extracellular (Potential).		SNV	GPR139,synonymous_variant,p.=,ENST00000570682,NM_001002911.2;GPR139,3_prime_UTR_variant,,ENST00000326571,;	uc002dgu.1	c.765G>A	1066/1613	2	2			c.765G>A						16	SNP	c.(763-765)GCG>GCA	42	42			ovary(2)	2	Broad	G protein-coupled receptor 139			20043354		0.532	ENSG00000180269	6528	g.chr16:20043354C>T		integral to membrane|plasma membrane								67.389611	KEEP	15	16	-1	45	56	15	16	-1	75.745181	45	56	0.230159	1	0	0	0	0	0	0	1	0	--	--		0	T			GPR139_uc010vaw.1_Silent_p.A162A	34	GBM-06-0169-TP	p.A255A	C	TCTGGATGGGCGCCCCATAGA	NM_001002911	NP_001002911	20043354	Q6DWJ6	GP139_HUMAN	0			2	927	-	T	T			Silent	255			Extracellular (Potential).			
GPR141	353345	broad.mit.edu	GRCh37	7	37780069	37780069	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0875-01	TCGA-06-0875-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000447769.1:c.74T>A	p.Phe25Tyr	p.F25Y	ENST00000447769		25	tTc/tAc	0			1			A	F/Y	uc003tfm.1	protein_coding		CCDS5451.1			74/918									ovary(3)	3	c.(73-75)TTC>TAC			Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR24237,hmmpanther:PTHR24237:SF0,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	G protein-coupled receptor 141				ENSP00000334540		1-Jan									COSM3412013	1-Jan	.		ENST00000334425	Transcript				integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000187037	g.chr7:37780069T>A	19997			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=GP141_HUMAN&rb=1&re=33&var=F25Y	NA	getma.org/?cm=var&var=hg19,7,37780069,T,A&fts=all	F25Y	--	--	1																																		uc003tfl.2_Intron	1			benign(0.127)	p.F25Y	NM_181791	NP_861456		tolerated(1)	1	GP141_HUMAN	GPR141	HGNC	Q7Z602	GP141_HUMAN			C9JDP7_HUMAN		1	74	+			UPI000004B92B	25			Helical; Name=1; (Potential).		SNV	GPR141,missense_variant,p.Phe25Tyr,ENST00000447769,;GPR141,missense_variant,p.Phe25Tyr,ENST00000334425,NM_181791.1;GPR141,missense_variant,p.Phe25Tyr,ENST00000450180,;EPDR1,intron_variant,,ENST00000476620,;GPR141,intron_variant,,ENST00000461610,;	uc003tfm.1	c.74T>A	74/918	2	2			c.74T>A						7	SNP	c.(73-75)TTC>TAC	43	43			ovary(3)	3	Broad	G protein-coupled receptor 141			37780069		0.493	ENSG00000187037	6529	g.chr7:37780069T>A		integral to membrane|plasma membrane	G-protein coupled receptor activity			74			74	59.015033	KEEP	39	23	-1	296	239	39	23	-1	124.74703	296	239	0.117904	1	0	0	0	0	1	0	0	0	--	--		0	A			uc003tfl.2_Intron	71	GBM-06-0875-TP	p.F25Y	T	AGCCTCTACTTCATAGTGCTT	NM_181791	NP_861456	37780069	Q7Z602	GP141_HUMAN	0			1	74	+	A	A			Missense_Mutation	25			Helical; Name=1; (Potential).			
GPR141	0	broad.mit.edu	GRCh37	7	37780665	37780665	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-27-2527-01	TCGA-27-2527-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334425.1:c.670C>G	p.Gln224Glu	p.Q224E	ENST00000334425	NM_181791.1	224	Cag/Gag	0			1			G	Q/E	uc003tfm.1	protein_coding		CCDS5451.1			670/918									ovary(3)	3	c.(670-672)CAG>GAG			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24237,hmmpanther:PTHR24237:SF0,Superfamily_domains:SSF81321	G protein-coupled receptor 141				ENSP00000334540		1-Jan									COSM3412014	1-Jan	.		ENST00000334425	Transcript				integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000187037	g.chr7:37780665C>G	19997			MODERATE		2.25	medium	getma.org/?cm=msa&ty=f&p=GP141_HUMAN&rb=34&re=279&var=Q224E	getma.org/pdb.php?prot=GP141_HUMAN&from=34&to=279&var=Q224E	getma.org/?cm=var&var=hg19,7,37780665,C,G&fts=all	Q224E	--	--	1																																		uc003tfl.2_Intron	1			probably_damaging(0.995)	p.Q224E	NM_181791	NP_861456		deleterious(0)	1	GP141_HUMAN	GPR141	HGNC	Q7Z602	GP141_HUMAN			C9JDP7_HUMAN		1	670	+			UPI000004B92B	224			Cytoplasmic (Potential).		SNV	GPR141,missense_variant,p.Gln224Glu,ENST00000447769,;GPR141,missense_variant,p.Gln224Glu,ENST00000334425,NM_181791.1;EPDR1,intron_variant,,ENST00000476620,;GPR141,downstream_gene_variant,,ENST00000450180,;GPR141,intron_variant,,ENST00000461610,;	uc003tfm.1	c.670C>G	670/918	3	3			c.670C>G						7	SNP	c.(670-672)CAG>GAG	64	64			ovary(3)	3	Broad	G protein-coupled receptor 141			37780665		0.438	ENSG00000187037	6529	g.chr7:37780665C>G		integral to membrane|plasma membrane	G-protein coupled receptor activity			74			74	-24.039949	KEEP	10	8	-1	168	198	10	8	-1	49.652242	168	198	0.051873	1	0	0	0	0	1	0	0	0	--	--		0	G			uc003tfl.2_Intron	204	GBM-27-2527-TP	p.Q224E	C	GTTCTGGGCTCAGCTGAAAAA	NM_181791	NP_861456	37780665	Q7Z602	GP141_HUMAN	0			1	670	+	G	G			Missense_Mutation	224			Cytoplasmic (Potential).			
GPR141	0	broad.mit.edu	GRCh37	7	37780661	37780661	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-32-4211-01	TCGA-32-4211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334425.1:c.666G>A	p.Trp222Ter	p.W222*	ENST00000334425	NM_181791.1	222	tgG/tgA	0			1			A	W/*	uc003tfm.1	protein_coding		CCDS5451.1			666/918									ovary(3)	3	c.(664-666)TGG>TGA			Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24237,hmmpanther:PTHR24237:SF0,Superfamily_domains:SSF81321	G protein-coupled receptor 141				ENSP00000334540		1-Jan									COSM2157397	1-Jan	.		ENST00000334425	Transcript				integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000187037	g.chr7:37780661G>A	19997			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,37780661,G,A&fts=all	W222*	--	--	1																																		uc003tfl.2_Intron	1				p.W222*	NM_181791	NP_861456			1	GP141_HUMAN	GPR141	HGNC	Q7Z602	GP141_HUMAN			C9JDP7_HUMAN		1	666	+			UPI000004B92B	222			Cytoplasmic (Potential).		SNV	GPR141,stop_gained,p.Trp222Ter,ENST00000447769,;GPR141,stop_gained,p.Trp222Ter,ENST00000334425,NM_181791.1;EPDR1,intron_variant,,ENST00000476620,;GPR141,downstream_gene_variant,,ENST00000450180,;GPR141,intron_variant,,ENST00000461610,;	uc003tfm.1	c.666G>A	666/918	5	2			c.666G>A						7	SNP	c.(664-666)TGG>TGA	21	21			ovary(3)	3	Broad	G protein-coupled receptor 141			37780661		0.433	ENSG00000187037	6529	g.chr7:37780661G>A		integral to membrane|plasma membrane	G-protein coupled receptor activity			74			74	263.898152	KEEP	55	65	-1	218	226	55	65	-1	303.602052	218	226	0.209073	1	0	0	0	0	0	1	0	0	--	--		0	A			uc003tfl.2_Intron	246	GBM-32-4211-TP	p.W222*	G	AGGAGTTCTGGGCTCAGCTGA	NM_181791	NP_861456	37780661	Q7Z602	GP141_HUMAN	0			1	666	+	A	A			Nonsense_Mutation	222			Cytoplasmic (Potential).			
GPR142	0	broad.mit.edu	GRCh37	17	72368116	72368116	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149042051	byFrequency	TCGA-32-5222-01	TCGA-32-5222-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335666.4:c.766C>T	p.Arg256Cys	p.R256C	ENST00000335666	NM_181790.1	256	Cgc/Tgc	0	T:0		1			T	R/C	uc010wqy.1	protein_coding	YES	CCDS11698.1			766/1389									ovary(2)|central_nervous_system(1)|skin(1)	4	c.(766-768)CGC>TGC			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR22751,hmmpanther:PTHR22751:SF48,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	G protein-coupled receptor 142			T:0.0019	ENSP00000335158		4-Apr	0.000865	9.76E-05	0.000261			0.0015	0.00113	6.08E-05	rs149042051,COSM984032	4-Apr	common_variant		ENST00000335666	Transcript				cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	ENSG00000257008	g.chr17:72368116C>T	20088			MODERATE		2.545	medium	getma.org/?cm=msa&ty=f&p=GP142_HUMAN&rb=175&re=414&var=R256C	getma.org/pdb.php?prot=GP142_HUMAN&from=175&to=414&var=R256C	getma.org/?cm=var&var=hg19,17,72368116,C,T&fts=all	R256C	--	--	1																																		GPR142_uc010wqx.1_Missense_Mutation_p.R168C	0,1	1		probably_damaging(0.96)	p.R256C	NM_181790	NP_861455		deleterious(0)	0,1	GP142_HUMAN	GPR142	HGNC	Q7Z601	GP142_HUMAN					4	766	+			UPI00001AA7F1	256			Cytoplasmic (Potential).		SNV	GPR142,missense_variant,p.Arg256Cys,ENST00000335666,NM_181790.1;GPR142,3_prime_UTR_variant,,ENST00000582579,;GPR142,downstream_gene_variant,,ENST00000585308,;	uc010wqy.1	c.766C>T	814/1437	2	2			c.766C>T						17	SNP	c.(766-768)CGC>TGC	21	21			ovary(2)|central_nervous_system(1)|skin(1)	4	Broad	G protein-coupled receptor 142			72368116		0.687	ENSG00000257008	6530	g.chr17:72368116C>T		cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity							113.246178	KEEP	13	30	-1	17	29	13	30	-1	113.320502	17	29	0.465753	1	0	0	0	0	1	0	0	0	--	--		0	T			GPR142_uc010wqx.1_Missense_Mutation_p.R168C	249	GBM-32-5222-TP	p.R256C	C	CACGGTTGACCGCTACACTGC	NM_181790	NP_861455	72368116	Q7Z601	GP142_HUMAN	0			4	766	+	T	T			Missense_Mutation	256			Cytoplasmic (Potential).			
GPR143	4935	broad.mit.edu	GRCh37	X	9711643	9711643	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0145-01	TCGA-06-0145-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000467482.1:c.729del	p.Ile244SerfsTer10	p.I244Sfs*10	ENST00000467482		243	aaG/aa	0			1			-	K/X	uc004cst.1	protein_coding	YES	CCDS14134.2			729/1215									ovary(1)	1	c.(787-789)AAGfs			hmmpanther:PTHR15177,hmmpanther:PTHR15177:SF1,Pfam_domain:PF02101,Prints_domain:PR00965	G protein-coupled receptor 143				ENSP00000417161		9-Jun									COSM2149729	9-Jun	.		ENST00000467482	Transcript	1		calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding	ENSG00000101850	g.chrX:9711643delC	20145			HIGH								--	--	1																																			1	1			p.K263fs	NM_000273	NP_000264			1	GP143_HUMAN	GPR143	HGNC	P51810	GP143_HUMAN			C9J9N1_HUMAN		6	789	-		Hepatocellular(5;0.000888)	UPI0000130B4E	243			Cytoplasmic (Potential).		deletion	GPR143,frameshift_variant,p.Ile244SerfsTer10,ENST00000467482,;GPR143,frameshift_variant,p.Ile264SerfsTer10,ENST00000380929,NM_000273.2;GPR143,frameshift_variant,p.Ile180SerfsTer10,ENST00000447366,;GPR143,frameshift_variant,p.Ile160SerfsTer10,ENST00000431126,;GPR143,upstream_gene_variant,,ENST00000487206,;GPR143,downstream_gene_variant,,ENST00000480178,;	uc004cst.1	c.789delG	876/1762	5	5			c.789delG						23	DEL	c.(787-789)AAGfs	1	1			ovary(1)	1	Broad	G protein-coupled receptor 143			9711643		0.393	ENSG00000101850	6531	g.chrX:9711643delC	calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding																				0.38	1	1	0	1	0	0	0	0	0	--	--		0	-				23	GBM-06-0145-TP	p.K263fs	C	AAAATCGGATCTTGATCACGG	NM_000273	NP_000264	9711643	P51810	GP143_HUMAN	0			6	789	-	-	-		Hepatocellular(5;0.000888)	Frame_Shift_Del	243			Cytoplasmic (Potential).			
GPR143	4935	broad.mit.edu	GRCh37	X	9711677	9711677	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs137852297		TCGA-06-0650-01	TCGA-06-0650-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000467482.1:c.695C>T	p.Thr232Met	p.T232M	ENST00000467482		232	aCg/aTg	0			1			A	T/M	uc004cst.1	protein_coding	YES	CCDS14134.2			695/1215						not_provided,pathogenic			ovary(1)	1	c.(754-756)ACG>ATG			hmmpanther:PTHR15177,hmmpanther:PTHR15177:SF1,Pfam_domain:PF02101	G protein-coupled receptor 143				ENSP00000417161		9-Jun	8.24E-06					2.08E-05			rs137852297,COSM3406688	9-Jun	.		ENST00000467482	Transcript	1		calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding	ENSG00000101850	g.chrX:9711677G>A	20145			MODERATE		2.465	medium	getma.org/?cm=msa&ty=f&p=GP143_HUMAN&rb=1&re=404&var=T232M	NA	getma.org/?cm=var&var=hg19,X,9711677,G,A&fts=all	T232M	--	--	1																																			1,1	1		probably_damaging(1)	p.T252M	NM_000273	NP_000264		deleterious(0)	0,1	GP143_HUMAN	GPR143	HGNC	P51810	GP143_HUMAN			C9J9N1_HUMAN		6	755	-		Hepatocellular(5;0.000888)	UPI0000130B4E	232		T -> K (in OA1; abnormal distribution of melanosomes; Not delivered at the cell surface of melanocytic and non- melanocytic cells).	Cytoplasmic (Potential).|Necessary for its G protein-activation ability and normal distribution of melanosomes.		SNV	GPR143,missense_variant,p.Thr232Met,ENST00000467482,;GPR143,missense_variant,p.Thr252Met,ENST00000380929,NM_000273.2;GPR143,missense_variant,p.Thr168Met,ENST00000447366,;GPR143,missense_variant,p.Thr148Met,ENST00000431126,;GPR143,upstream_gene_variant,,ENST00000487206,;GPR143,downstream_gene_variant,,ENST00000480178,;	uc004cst.1	c.755C>T	842/1762	2	2			c.755C>T						23	SNP	c.(754-756)ACG>ATG	18	18			ovary(1)	1	Broad	G protein-coupled receptor 143			9711677		0.383	ENSG00000101850	6531	g.chrX:9711677G>A	calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding							18.908666	KEEP	12	10	-1	82	72	12	10	-1	40.016183	82	72	0.116438	1	0	0	0	0	1	0	0	0	--	--		0	A				63	GBM-06-0650-TP	p.T252M	G	CTCGTTCTCCGTGTAAATGCC	NM_000273	NP_000264	9711677	P51810	GP143_HUMAN	0			6	755	-	A	A		Hepatocellular(5;0.000888)	Missense_Mutation	232		T -> K (in OA1; abnormal distribution of melanosomes; Not delivered at the cell surface of melanocytic and non- melanocytic cells).	Cytoplasmic (Potential).|Necessary for its G protein-activation ability and normal distribution of melanosomes.			
GPR143	0	broad.mit.edu	GRCh37	X	9693807	9693807	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-41-3393-01	TCGA-41-3393-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000467482.1:c.1194C>G	p.Leu398=	p.L398=	ENST00000467482		398	ctC/ctG	0			1			C	L	uc004cst.1	protein_coding	YES	CCDS14134.2			1194/1215									ovary(1)	1	c.(1252-1254)CTC>CTG			hmmpanther:PTHR15177,hmmpanther:PTHR15177:SF1,Pfam_domain:PF02101	G protein-coupled receptor 143				ENSP00000417161		9-Sep									COSM3406687	9-Sep	.		ENST00000467482	Transcript	1		calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding	ENSG00000101850	g.chrX:9693807G>C	20145			LOW								--	--	1																																			1	1			p.L418L	NM_000273	NP_000264			1	GP143_HUMAN	GPR143	HGNC	P51810	GP143_HUMAN			C9J9N1_HUMAN		9	1254	-		Hepatocellular(5;0.000888)	UPI0000130B4E	398			Cytoplasmic (Potential).		SNV	GPR143,synonymous_variant,p.=,ENST00000467482,;GPR143,synonymous_variant,p.=,ENST00000380929,NM_000273.2;	uc004cst.1	c.1254C>G	1341/1762	4	4			c.1254C>G						23	SNP	c.(1252-1254)CTC>CTG	47	47			ovary(1)	1	Broad	G protein-coupled receptor 143			9693807		0.473	ENSG00000101850	6531	g.chrX:9693807G>C	calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding							44.366913	KEEP	6	10	-1	38	42	6	10	-1	51.668428	38	42	0.192771	1	0	0	0	0	0	0	1	0	--	--		0	C				255	GBM-41-3393-TP	p.L418L	G	CATGGGTTGGGAGAGCAGGGT	NM_000273	NP_000264	9693807	P51810	GP143_HUMAN	0			9	1254	-	C	C		Hepatocellular(5;0.000888)	Silent	398			Cytoplasmic (Potential).			
GPR146	0	broad.mit.edu	GRCh37	7	1098107	1098107	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs147446123		TCGA-19-5951-01	TCGA-19-5951-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297468.3:c.957delG	p.His320ThrfsTer24	p.H320Tfs*24	ENST00000297468	NM_138445.2	319	cGg/cg	0			1			-	R/X	uc003sjw.2	protein_coding		CCDS5321.1			956/1002									ovary(1)	1	c.(955-957)CGGfs			hmmpanther:PTHR24237,hmmpanther:PTHR24237:SF12,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	G protein-coupled receptor 146				ENSP00000297468		1-Jan									rs775654196,COSM2156629	1-Jan	.		ENST00000297468	Transcript				integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000164849	g.chr7:1098107delG	21718	1		HIGH								--	--	1																																		C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPR146_uc003sjx.3_Frame_Shift_Del_p.R319fs|GPR146_uc003sjy.1_Frame_Shift_Del_p.R319fs	0,1				p.R319fs	NM_138445	NP_612454			0,1	GP146_HUMAN	GPR146	HGNC	Q96CH1	GP146_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)	C9JAQ6_HUMAN,C9J5X5_HUMAN,A4D2Q3_HUMAN		2	1032	+		Ovarian(82;0.0779)	UPI0000040BAB	319			Cytoplasmic (Potential).		deletion	GPR146,frameshift_variant,p.His320ThrfsTer24,ENST00000397095,;GPR146,frameshift_variant,p.His320ThrfsTer24,ENST00000297468,NM_138445.2;C7orf50,intron_variant,,ENST00000397098,;C7orf50,intron_variant,,ENST00000357429,NM_001134395.1,NM_032350.5;C7orf50,intron_variant,,ENST00000397100,NM_001134396.1;C7orf50,intron_variant,,ENST00000491163,;GPR146,downstream_gene_variant,,ENST00000444847,;C7orf50,upstream_gene_variant,,ENST00000444428,;GPR146,downstream_gene_variant,,ENST00000427680,;RP11-449P15.1,non_coding_transcript_exon_variant,,ENST00000549241,;C7orf50,intron_variant,,ENST00000488073,;GPR146,downstream_gene_variant,,ENST00000474396,;	uc003sjw.2	c.956delG	967/1757	5	5			c.956delG						7	DEL	c.(955-957)CGGfs	39	39			ovary(1)	1	Broad	G protein-coupled receptor 146			1098107		0.617	ENSG00000164849	6532	g.chr7:1098107delG		integral to membrane|plasma membrane	G-protein coupled receptor activity																				0.37	1	1	0	1	0	0	0	0	0	--	--		0	-			C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPR146_uc003sjx.3_Frame_Shift_Del_p.R319fs|GPR146_uc003sjy.1_Frame_Shift_Del_p.R319fs	171	GBM-19-5951-TP	p.R319fs	G	TGCGGGGACCGGCACTGCTCC	NM_138445	NP_612454	1098107	Q96CH1	GP146_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)	2	1032	+	-	-		Ovarian(82;0.0779)	Frame_Shift_Del	319			Cytoplasmic (Potential).			
GPR148	344561	broad.mit.edu	GRCh37	2	131486773	131486773	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0152-01	TCGA-06-0152-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309926.4:c.49G>A	p.Ala17Thr	p.A17T	ENST00000309926	NM_207364.2	17	Gcc/Acc	0			1			A	A/T	uc002trv.1	protein_coding	YES	CCDS2163.1			49/1044									skin(1)	1	c.(49-51)GCC>ACC				G protein-coupled receptor 148				ENSP00000308908		1-Jan									COSM2149827	1-Jan	.		ENST00000309926	Transcript				integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000173302	g.chr2:131486773G>A	23623			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=GP148_HUMAN&rb=1&re=67&var=A17T	NA	getma.org/?cm=var&var=hg19,2,131486773,G,A&fts=all	A17T	--	--	1																																			1	1		benign(0.002)	p.A17T	NM_207364	NP_997247		tolerated(0.41)	1	GP148_HUMAN	GPR148	HGNC	Q8TDV2	GP148_HUMAN					1	51	+	Colorectal(110;0.1)		UPI0000048E0D	17			Extracellular (Potential).		SNV	GPR148,missense_variant,p.Ala17Thr,ENST00000309926,NM_207364.2;	uc002trv.1	c.49G>A	131/1267	2	2			c.49G>A						2	SNP	c.(49-51)GCC>ACC	46	46			skin(1)	1	Broad	G protein-coupled receptor 148			131486773		0.612	ENSG00000173302	6533	g.chr2:131486773G>A		integral to membrane|plasma membrane	G-protein coupled receptor activity							82.358529	KEEP	21	16	-1	63	48	21	16	-1	89.111523	63	48	0.263158	1	0	0	0	0	1	0	0	0	--	--		0	A				25	GBM-06-0152-TP	p.A17T	G	AGCTTGGCCGGCCCTGATCCA	NM_207364	NP_997247	131486773	Q8TDV2	GP148_HUMAN	0			1	51	+	A	A	Colorectal(110;0.1)		Missense_Mutation	17			Extracellular (Potential).			
GPR149	0	broad.mit.edu	GRCh37	3	154139085	154139085	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-87-5896-01	TCGA-87-5896-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389740.2:c.1366A>G	p.Ile456Val	p.I456V	ENST00000389740	NM_001038705.1	456	Atc/Gtc	0			1			C	I/V	uc003faa.2	protein_coding	YES	CCDS43162.1			1366/2196									ovary(6)	6	c.(1366-1368)ATC>GTC			hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF32	G protein-coupled receptor 149				ENSP00000374390		4-Mar									COSM3408372	4-Mar	.		ENST00000389740	Transcript				integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000174948	g.chr3:154139085T>C	23627			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=GP149_HUMAN&rb=362&re=561&var=I456V	NA	getma.org/?cm=var&var=hg19,3,154139085,T,C&fts=all	I456V	--	--	1																																			1	1		benign(0.019)	p.I456V	NM_001038705	NP_001033794		tolerated(0.18)	1	GP149_HUMAN	GPR149	HGNC	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		Q2MKA6_HUMAN		3	1466	-			UPI00001AEEA9	456			Cytoplasmic (Potential).		SNV	GPR149,missense_variant,p.Ile456Val,ENST00000389740,NM_001038705.1;	uc003faa.2	c.1366A>G	1466/2323	3	3			c.1366A>G						3	SNP	c.(1366-1368)ATC>GTC	49	49			ovary(6)	6	Broad	G protein-coupled receptor 149			154139085		0.393	ENSG00000174948	6534	g.chr3:154139085T>C		integral to membrane|plasma membrane	G-protein coupled receptor activity							224.173617	KEEP	39	32	-1	64	58	39	32	-1	226.85627	64	58	0.370166	1	0	0	0	0	1	0	0	0	--	--		0	C				291	GBM-87-5896-TP	p.I456V	T	GTGGTGCTGATTTCTACTTTT	NM_001038705	NP_001033794	154139085	Q86SP6	GP149_HUMAN	0	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		3	1466	-	C	C			Missense_Mutation	456			Cytoplasmic (Potential).			
GPR15	2838	broad.mit.edu	GRCh37	3	98251271	98251271	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0171-01	TCGA-06-0171-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284311.3:c.394T>A	p.Tyr132Asn	p.Y132N	ENST00000284311	NM_005290.2	132	Tac/Aac	0			1			A	Y/N	uc011bgy.1	protein_coding	YES	CCDS2931.1			394/1083									ovary(1)	1	c.(394-396)TAC>AAC			Prints_domain:PR00237,Prints_domain:PR01157,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,PROSITE_patterns:PS00237,hmmpanther:PTHR24228:SF10,hmmpanther:PTHR24228,PROSITE_profiles:PS50262	G protein-coupled receptor 15				ENSP00000284311		1-Jan									COSM3408930	1-Jan	.		ENST00000284311	Transcript				integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	ENSG00000154165	g.chr3:98251271T>A	4469			MODERATE		3.85	high	getma.org/?cm=msa&ty=f&p=GPR15_HUMAN&rb=50&re=302&var=Y132N	getma.org/pdb.php?prot=GPR15_HUMAN&from=50&to=302&var=Y132N	getma.org/?cm=var&var=hg19,3,98251271,T,A&fts=all	Y132N	--	--	1																																			1	1		probably_damaging(0.984)	p.Y132N	NM_005290	NP_005281		deleterious(0)	1	GPR15_HUMAN	GPR15	HGNC	P49685	GPR15_HUMAN		Lung(72;0.246)	B6V9G9_HUMAN		1	394	+		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)	UPI0000000EAC	132			Helical; Name=3; (Potential).		SNV	GPR15,missense_variant,p.Tyr132Asn,ENST00000284311,NM_005290.2;CPOX,intron_variant,,ENST00000512905,;	uc011bgy.1	c.394T>A	529/1218	2	2			c.394T>A						3	SNP	c.(394-396)TAC>AAC	21	21			ovary(1)	1	Broad	G protein-coupled receptor 15			98251271		0.537	ENSG00000154165	6535	g.chr3:98251271T>A		integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled							-0.278168	KEEP	5	4	-1	47	50	5	4	-1	17.980761	47	50	0.079208	1	0	0	0	0	1	0	0	0	--	--		0	A				35	GBM-06-0171-TP	p.Y132N	T	TGTTGACCGCTACCTGGCCAT	NM_005290	NP_005281	98251271	P49685	GPR15_HUMAN	0		Lung(72;0.246)	1	394	+	A	A		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)	Missense_Mutation	132			Helical; Name=3; (Potential).			
GPR15	0	broad.mit.edu	GRCh37	3	98251885	98251885	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-2625-01	TCGA-19-2625-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284311.3:c.1008C>G	p.His336Gln	p.H336Q	ENST00000284311	NM_005290.2	336	caC/caG	0			1			G	H/Q	uc011bgy.1	protein_coding	YES	CCDS2931.1			1008/1083									ovary(1)	1	c.(1006-1008)CAC>CAG			Gene3D:1.20.1070.10,hmmpanther:PTHR24228:SF10,hmmpanther:PTHR24228	G protein-coupled receptor 15				ENSP00000284311		1-Jan									COSM3408931	1-Jan	.		ENST00000284311	Transcript				integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	ENSG00000154165	g.chr3:98251885C>G	4469			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=GPR15_HUMAN&rb=303&re=360&var=H336Q	NA	getma.org/?cm=var&var=hg19,3,98251885,C,G&fts=all	H336Q	--	--	1																																			1	1		possibly_damaging(0.546)	p.H336Q	NM_005290	NP_005281		tolerated(0.19)	1	GPR15_HUMAN	GPR15	HGNC	P49685	GPR15_HUMAN		Lung(72;0.246)	B6V9G9_HUMAN		1	1008	+		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)	UPI0000000EAC	336			Cytoplasmic (Potential).		SNV	GPR15,missense_variant,p.His336Gln,ENST00000284311,NM_005290.2;CPOX,intron_variant,,ENST00000512905,;	uc011bgy.1	c.1008C>G	1143/1218	3	3			c.1008C>G						3	SNP	c.(1006-1008)CAC>CAG	53	53			ovary(1)	1	Broad	G protein-coupled receptor 15			98251885		0.483	ENSG00000154165	6535	g.chr3:98251885C>G		integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled							124.24769	KEEP	19	21	-1	70	47	19	21	-1	131.079205	70	47	0.270833	1	0	0	0	0	1	0	0	0	--	--		0	G				165	GBM-19-2625-TP	p.H336Q	C	CAGATAGTCACCTCACTAAGG	NM_005290	NP_005281	98251885	P49685	GPR15_HUMAN	0		Lung(72;0.246)	1	1008	+	G	G		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)	Missense_Mutation	336			Cytoplasmic (Potential).			
GPR153	387509	broad.mit.edu	GRCh37	1	6311445	6311445	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs139457263		TCGA-06-5418-01	TCGA-06-5418-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377893.2:c.932G>A	p.Arg311Gln	p.R311Q	ENST00000377893	NM_207370.2	311	cGg/cAg	0	T:0.0005	T:0.0015	1	T:0		T	R/Q	uc001amp.1	protein_coding	YES	CCDS64.1			932/1830										0	c.(931-933)CGG>CAG			Gene3D:1.20.1070.10,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16518,hmmpanther:PTHR16518:SF5	G protein-coupled receptor 153		T:0	T:0	ENSP00000367125	T:0	6-Apr	9.88E-05	0.000967				3.03E-05			rs139457263,COSM2153352	6-Apr	common_variant		ENST00000377893	Transcript		T:0.0004		integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000158292	g.chr1:6311445C>T	23618			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=GP153_HUMAN&rb=24&re=312&var=R311Q	NA	getma.org/?cm=var&var=hg19,1,6311445,C,T&fts=all	R311Q	--	--	1																																		GPR153_uc001amo.1_5'Flank	0,1	1		benign(0.272)	p.R311Q	NM_207370	NP_997253	T:0	deleterious(0)	0,1	GP153_HUMAN	GPR153	HGNC	Q6NV75	GP153_HUMAN		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)			4	1192	-	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	UPI000040E9D7	311			Cytoplasmic (Potential).		SNV	GPR153,missense_variant,p.Arg311Gln,ENST00000377893,NM_207370.2;	uc001amp.1	c.932G>A	1192/4082	2	2			c.932G>A						1	SNP	c.(931-933)CGG>CAG	29	29				0	Broad	G protein-coupled receptor 153			6311445		0.637	ENSG00000158292	6539	g.chr1:6311445C>T		integral to membrane|plasma membrane	G-protein coupled receptor activity							158.442942	KEEP	18	44	-1	56	53	18	44	-1	160.850399	56	53	0.363014	1	0	0	0	0	1	0	0	0	--	--		0	T			GPR153_uc001amo.1_5'Flank	100	GBM-06-5418-TP	p.R311Q	C	GCACTTCTCCCGGACAGCTTT	NM_207370	NP_997253	6311445	Q6NV75	GP153_HUMAN	0		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)	4	1192	-	T	T	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	Missense_Mutation	311			Cytoplasmic (Potential).			
GPR156	0	broad.mit.edu	GRCh37	3	119962857	119962857	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01	TCGA-19-5955-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315843.3:c.89C>T	p.Thr30Ile	p.T30I	ENST00000315843	NM_153002.2	30	aCa/aTa	0			1			A	T/I	uc011bjf.1	protein_coding		CCDS2997.1			89/2445									ovary(1)|skin(1)	2	c.(88-90)ACA>ATA			Low_complexity_(Seg):seg	G protein-coupled receptor 156				ENSP00000324553		9-Jan	8.24E-06		8.69E-05						rs768172387,COSM3408154	9-Jan	.		ENST00000315843	Transcript				integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	ENSG00000175697	g.chr3:119962857G>A	20844			MODERATE		0.46	neutral	getma.org/?cm=msa&ty=f&p=GP156_HUMAN&rb=1&re=58&var=T30I	NA	getma.org/?cm=var&var=hg19,3,119962857,G,A&fts=all	T30I	--	--	1																																		GPR156_uc011bjg.1_Missense_Mutation_p.T30I	0,1			possibly_damaging(0.894)	p.T30I	NM_153002	NP_694547		tolerated(0.33)	0,1	GP156_HUMAN	GPR156	HGNC	Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)			1	89	-			UPI000004731C	30			Extracellular (Potential).		SNV	GPR156,missense_variant,p.Thr30Ile,ENST00000464295,;GPR156,missense_variant,p.Thr30Ile,ENST00000315843,NM_153002.2,NM_001168271.1;GPR156,missense_variant,p.Thr30Ile,ENST00000461057,;GPR156,missense_variant,p.Thr30Ile,ENST00000495912,;GPR156,non_coding_transcript_exon_variant,,ENST00000481907,;	uc011bjf.1	c.89C>T	286/4193	1	1			c.89C>T						3	SNP	c.(88-90)ACA>ATA	50	50			ovary(1)|skin(1)	2	Broad	G protein-coupled receptor 156			119962857		0.433	ENSG00000175697	6541	g.chr3:119962857G>A		integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity							11.7463	KEEP	4	5	-1	23	38	4	5	-1	20.185669	23	38	0.136364	1	0	0	0	0	1	0	0	0	--	--		0	A			GPR156_uc011bjg.1_Missense_Mutation_p.T30I	175	GBM-19-5955-TP	p.T30I	G	TACAATTGTTGTCTTGCAGAG	NM_153002	NP_694547	119962857	Q8NFN8	GP156_HUMAN	0		GBM - Glioblastoma multiforme(114;0.19)	1	89	-	A	A			Missense_Mutation	30			Extracellular (Potential).			
GPR158	57512	broad.mit.edu	GRCh37	10	25886887	25886887	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-02-0047-01	TCGA-02-0047-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376351.3:c.2332G>T	p.Asp778Tyr	p.D778Y	ENST00000376351	NM_020752.2	778	Gac/Tac	0			1			T	D/Y	uc001isj.2	protein_coding	YES	CCDS31166.1			2332/3648									ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8	c.(2332-2334)GAC>TAC			hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546	G protein-coupled receptor 158 precursor				ENSP00000365529		11-Nov									COSM3397063	11-Nov	.		ENST00000376351	Transcript				integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000151025	g.chr10:25886887G>T	23689			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=GP158_HUMAN&rb=670&re=869&var=D778Y	NA	getma.org/?cm=var&var=hg19,10,25886887,G,T&fts=all	D778Y	--	--	1																																		GPR158_uc001isk.2_Missense_Mutation_p.D153Y	1	1		benign(0.374)	p.D778Y	NM_020752	NP_065803		tolerated(0.3)	1	GP158_HUMAN	GPR158	HGNC	Q5T848	GP158_HUMAN					11	2392	+			UPI0000199875	778			Cytoplasmic (Potential).		SNV	GPR158,missense_variant,p.Asp778Tyr,ENST00000376351,NM_020752.2;GPR158,non_coding_transcript_exon_variant,,ENST00000490549,;	uc001isj.2	c.2332G>T	2691/6959	2	2			c.2332G>T						10	SNP	c.(2332-2334)GAC>TAC	25	25			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8	Broad	G protein-coupled receptor 158 precursor			25886887		0.567	ENSG00000151025	6543	g.chr10:25886887G>T		integral to membrane|plasma membrane	G-protein coupled receptor activity							-6.778411	KEEP	6	11	0.352941176	81	134	6	11	0.352941176	35.83402	81	134	0.074236	1	0	0	0	0	1	0	0	0	--	--		0	T			GPR158_uc001isk.2_Missense_Mutation_p.D153Y	3	GBM-02-0047-TP	p.D778Y	G	GGAGGGCGCCGACCATGGCAC	NM_020752	NP_065803	25886887	Q5T848	GP158_HUMAN	0			11	2392	+	T	T			Missense_Mutation	778			Cytoplasmic (Potential).			
GPR158	57512	broad.mit.edu	GRCh37	10	25886905	25886905	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-02-0047-01	TCGA-02-0047-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376351.3:c.2350G>C	p.Gly784Arg	p.G784R	ENST00000376351	NM_020752.2	784	Ggc/Cgc	0			1			C	G/R	uc001isj.2	protein_coding	YES	CCDS31166.1			2350/3648									ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8	c.(2350-2352)GGC>CGC			hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546	G protein-coupled receptor 158 precursor				ENSP00000365529		11-Nov									COSM3397064	11-Nov	.		ENST00000376351	Transcript				integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000151025	g.chr10:25886905G>C	23689			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=GP158_HUMAN&rb=670&re=869&var=G784R	NA	getma.org/?cm=var&var=hg19,10,25886905,G,C&fts=all	G784R	--	--	1																																		GPR158_uc001isk.2_Missense_Mutation_p.G159R	1	1		benign(0.004)	p.G784R	NM_020752	NP_065803		tolerated(0.05)	1	GP158_HUMAN	GPR158	HGNC	Q5T848	GP158_HUMAN					11	2410	+			UPI0000199875	784			Cytoplasmic (Potential).		SNV	GPR158,missense_variant,p.Gly784Arg,ENST00000376351,NM_020752.2;GPR158,non_coding_transcript_exon_variant,,ENST00000490549,;	uc001isj.2	c.2350G>C	2709/6959	3	3			c.2350G>C						10	SNP	c.(2350-2352)GGC>CGC	63	63			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8	Broad	G protein-coupled receptor 158 precursor			25886905		0.547	ENSG00000151025	6543	g.chr10:25886905G>C		integral to membrane|plasma membrane	G-protein coupled receptor activity							8.684807	KEEP	8	14	-1	96	139	8	14	-1	50.526197	96	139	0.086777	1	0	0	0	0	1	0	0	0	--	--		0	C			GPR158_uc001isk.2_Missense_Mutation_p.G159R	3	GBM-02-0047-TP	p.G784R	G	CACAGCCAAAGGCACTGCCCT	NM_020752	NP_065803	25886905	Q5T848	GP158_HUMAN	0			11	2410	+	C	C			Missense_Mutation	784			Cytoplasmic (Potential).			
GPR161	0	broad.mit.edu	GRCh37	1	168066138	168066138	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-12-3649-01	TCGA-12-3649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367835.1:c.707G>C	p.Arg236Thr	p.R236T	ENST00000367835	NM_001267610.1	236	aGg/aCg	0			1			G	R/T	uc001gfc.2	protein_coding		CCDS1268.1			707/1590										0	c.(706-708)AGG>ACG			Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF246,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321	G protein-coupled receptor 161 isoform 2				ENSP00000356809		7-Apr									COSM3399962,COSM3399963	7-Apr	.		ENST00000367835	Transcript	1		multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000143147	g.chr1:168066138C>G	23694			MODERATE		1.745	low	getma.org/?cm=msa&ty=f&p=GP161_HUMAN&rb=44&re=324&var=R236T	getma.org/pdb.php?prot=GP161_HUMAN&from=44&to=324&var=R236T	getma.org/?cm=var&var=hg19,1,168066138,C,G&fts=all	R236T	--	--	1																																		GPR161_uc001gfb.2_Missense_Mutation_p.R104T|GPR161_uc010pll.1_Missense_Mutation_p.R146T|GPR161_uc010plm.1_Missense_Mutation_p.R122T|GPR161_uc009wvo.2_Missense_Mutation_p.R253T|GPR161_uc001gfd.2_Missense_Mutation_p.R236T|GPR161_uc010pln.1_Missense_Mutation_p.R256T|GPR161_uc001gfe.1_Missense_Mutation_p.R236T	1,1			benign(0.207)	p.R236T	NM_153832	NP_722561		tolerated(0.54)	1,1	GP161_HUMAN	GPR161	HGNC	Q8N6U8	GP161_HUMAN					5	1021	-	all_hematologic(923;0.215)		UPI00000725FD	236			Cytoplasmic (Potential).		SNV	GPR161,missense_variant,p.Arg236Thr,ENST00000367838,NM_153832.2,NM_001267611.1;GPR161,missense_variant,p.Arg236Thr,ENST00000271357,;GPR161,missense_variant,p.Arg236Thr,ENST00000367835,NM_001267610.1;GPR161,missense_variant,p.Arg256Thr,ENST00000537209,NM_001267609.1;GPR161,missense_variant,p.Arg236Thr,ENST00000361697,;GPR161,missense_variant,p.Arg104Thr,ENST00000367836,NM_001267612.1;GPR161,missense_variant,p.Arg158Thr,ENST00000539777,NM_001267613.1;GPR161,missense_variant,p.Arg122Thr,ENST00000546300,NM_001267614.1;GPR161,non_coding_transcript_exon_variant,,ENST00000493800,;	uc001gfc.2	c.707G>C	1264/2400	3	3			c.707G>C						1	SNP	c.(706-708)AGG>ACG	52	52				0	Broad	G protein-coupled receptor 161 isoform 2			168066138		0.597	ENSG00000143147	6545	g.chr1:168066138C>G	multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity							107.471819	KEEP	18	18	-1	40	48	18	18	-1	111.749782	40	48	0.3	1	0	0	0	0	1	0	0	0	--	--		0	G			GPR161_uc001gfb.2_Missense_Mutation_p.R104T|GPR161_uc010pll.1_Missense_Mutation_p.R146T|GPR161_uc010plm.1_Missense_Mutation_p.R122T|GPR161_uc009wvo.2_Missense_Mutation_p.R253T|GPR161_uc001gfd.2_Missense_Mutation_p.R236T|GPR161_uc010pln.1_Missense_Mutation_p.R256T|GPR161_uc001gfe.1_Missense_Mutation_p.R236T	125	GBM-12-3649-TP	p.R236T	C	CCTCCCGGTCCTCTGAGCATC	NM_153832	NP_722561	168066138	Q8N6U8	GP161_HUMAN	0			5	1021	-	G	G	all_hematologic(923;0.215)		Missense_Mutation	236			Cytoplasmic (Potential).			
GPR17	2840	broad.mit.edu	GRCh37	2	128408380	128408380	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0750-01	TCGA-06-0750-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000544369.1:c.155G>T	p.Gly52Val	p.G52V	ENST00000544369	NM_001161415.1	52	gGc/gTc	0			1			T	G/V	uc010yzn.1	protein_coding		CCDS2148.1			155/1104										0	c.(154-156)GGC>GTC			hmmpanther:PTHR24232:SF44,hmmpanther:PTHR24232,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	G protein-coupled receptor 17 isoform a				ENSP00000272644		3-Mar									COSM2151941	3-Mar	.		ENST00000272644	Transcript				integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	ENSG00000144230	g.chr2:128408380G>T	4471			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=GPR17_HUMAN&rb=26&re=65&var=G52V	NA	getma.org/?cm=var&var=hg19,2,128408380,G,T&fts=all	G52V	--	--	1																																OREG0014966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	LIMS2_uc002tow.2_5'Flank|LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Missense_Mutation_p.G52V|GPR17_uc010yzo.1_Missense_Mutation_p.G24V|GPR17_uc002tpd.2_Missense_Mutation_p.G24V	1			benign(0.039)	p.G52V	NM_001161415	NP_001154887		tolerated(0.53)	1	GPR17_HUMAN	GPR17	HGNC	Q13304	GPR17_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0677)	G4XH68_HUMAN,C9JWY5_HUMAN		4	766	+	Colorectal(110;0.1)	Ovarian(717;0.15)	UPI0000050432	52			Extracellular (Potential).		SNV	GPR17,missense_variant,p.Gly52Val,ENST00000544369,NM_001161415.1;GPR17,missense_variant,p.Gly52Val,ENST00000272644,NM_001161417.1,NM_005291.2,NM_001161416.1;GPR17,missense_variant,p.Gly52Val,ENST00000393018,;GPR17,missense_variant,p.Gly52Val,ENST00000423019,;LIMS2,intron_variant,,ENST00000409455,;LIMS2,intron_variant,,ENST00000410011,NM_001161404.1;LIMS2,intron_variant,,ENST00000409808,;LIMS2,intron_variant,,ENST00000324938,NM_017980.4;LIMS2,intron_variant,,ENST00000355119,NM_001161403.1;LIMS2,intron_variant,,ENST00000545738,NM_001136037.2;LIMS2,upstream_gene_variant,,ENST00000410038,NM_001256542.1;LIMS2,upstream_gene_variant,,ENST00000409254,;GPR17,non_coding_transcript_exon_variant,,ENST00000486700,;GPR17,non_coding_transcript_exon_variant,,ENST00000496086,;LIMS2,upstream_gene_variant,,ENST00000582671,;LIMS2,intron_variant,,ENST00000469300,;LIMS2,intron_variant,,ENST00000466410,;LIMS2,intron_variant,,ENST00000476932,;LIMS2,upstream_gene_variant,,ENST00000413578,;	uc010yzn.1	c.155G>T	229/2062	2	2			c.155G>T						2	SNP	c.(154-156)GGC>GTC	32	32				0	Broad	G protein-coupled receptor 17 isoform a			128408380		0.08	ENSG00000144230	6547	g.chr2:128408380G>T		integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled							190.15382	KEEP	41	38	0.518987342	66	74	41	38	0.518987342	192.804286	66	74	0.371585	1	0	0	0	0	1	0	0	0	--	--		0	T	OREG0014966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	LIMS2_uc002tow.2_5'Flank|LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Missense_Mutation_p.G52V|GPR17_uc010yzo.1_Missense_Mutation_p.G24V|GPR17_uc002tpd.2_Missense_Mutation_p.G24V	70	GBM-06-0750-TP	p.G52V	G	gagcaatgtggccaggagacg	NM_001161415	NP_001154887	128408380	Q13304	GPR17_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.0677)	4	766	+	T	T	Colorectal(110;0.1)	Ovarian(717;0.15)	Missense_Mutation	52			Extracellular (Potential).			
GPR17	0	broad.mit.edu	GRCh37	2	128408657	128408657	+	synonymous_variant	Silent	SNP	C	C	T	rs61749508		TCGA-19-5952-01	TCGA-19-5952-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000272644.3:c.432C>T	p.Tyr144=	p.Y144=	ENST00000272644	NM_001161417.1	144	taC/taT	0		T:0	1	T:0		T	Y	uc010yzn.1	protein_coding		CCDS2148.1			432/1104										0	c.(430-432)TAC>TAT			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24232:SF44,hmmpanther:PTHR24232,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01157,Prints_domain:PR00237	G protein-coupled receptor 17 isoform a		T:0.001		ENSP00000272644	T:0	3-Mar	1.65E-05					3.01E-05			rs61749508,COSM2156704	3-Mar	.		ENST00000272644	Transcript		T:0.0002		integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	ENSG00000144230	g.chr2:128408657C>T	4471			LOW								--	--	1																																		LIMS2_uc002tow.2_5'Flank|LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Silent_p.Y144Y|GPR17_uc010yzo.1_Silent_p.Y116Y|GPR17_uc002tpd.2_Silent_p.Y116Y	0,1				p.Y144Y	NM_001161415	NP_001154887	T:0		0,1	GPR17_HUMAN	GPR17	HGNC	Q13304	GPR17_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0677)	G4XH68_HUMAN,C9JWY5_HUMAN		4	1043	+	Colorectal(110;0.1)	Ovarian(717;0.15)	UPI0000050432	144			Helical; Name=3; (Potential).		SNV	GPR17,synonymous_variant,p.=,ENST00000544369,NM_001161415.1;GPR17,synonymous_variant,p.=,ENST00000272644,NM_001161417.1,NM_005291.2,NM_001161416.1;GPR17,synonymous_variant,p.=,ENST00000393018,;LIMS2,intron_variant,,ENST00000409455,;LIMS2,intron_variant,,ENST00000410011,NM_001161404.1;LIMS2,intron_variant,,ENST00000409808,;LIMS2,intron_variant,,ENST00000324938,NM_017980.4;LIMS2,intron_variant,,ENST00000355119,NM_001161403.1;LIMS2,intron_variant,,ENST00000545738,NM_001136037.2;LIMS2,upstream_gene_variant,,ENST00000410038,NM_001256542.1;LIMS2,upstream_gene_variant,,ENST00000409254,;GPR17,downstream_gene_variant,,ENST00000423019,;GPR17,non_coding_transcript_exon_variant,,ENST00000486700,;GPR17,non_coding_transcript_exon_variant,,ENST00000496086,;LIMS2,upstream_gene_variant,,ENST00000582671,;LIMS2,intron_variant,,ENST00000469300,;LIMS2,intron_variant,,ENST00000466410,;LIMS2,intron_variant,,ENST00000476932,;LIMS2,upstream_gene_variant,,ENST00000413578,;	uc010yzn.1	c.432C>T	506/2062	1	1			c.432C>T						2	SNP	c.(430-432)TAC>TAT	6	6				0	Broad	G protein-coupled receptor 17 isoform a			128408657		0.602	ENSG00000144230	6547	g.chr2:128408657C>T		integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled							97.056991	KEEP	18	24	-1	34	44	18	24	-1	99.783356	34	44	0.330189	1	0	0	0	0	0	0	1	0	--	--		0	T			LIMS2_uc002tow.2_5'Flank|LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Silent_p.Y144Y|GPR17_uc010yzo.1_Silent_p.Y116Y|GPR17_uc002tpd.2_Silent_p.Y116Y	172	GBM-19-5952-TP	p.Y144Y	C	TCAACATGTACGCCAGCATCT	NM_001161415	NP_001154887	128408657	Q13304	GPR17_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.0677)	4	1043	+	T	T	Colorectal(110;0.1)	Ovarian(717;0.15)	Silent	144			Helical; Name=3; (Potential).			
GPR174	84636	broad.mit.edu	GRCh37	X	78427380	78427380	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0241-01	TCGA-06-0241-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276077.1:c.876C>T	p.Tyr292=	p.Y292=	ENST00000276077	NM_032553.1	292	taC/taT	0			1			T	Y	uc004edg.1	protein_coding	YES	CCDS14443.1			876/1002									lung(1)|central_nervous_system(1)	2	c.(874-876)TAC>TAT			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24237,hmmpanther:PTHR24237:SF4,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	putative purinergic receptor FKSG79				ENSP00000276077		1-Jan									COSM2151188	1-Jan	.		ENST00000276077	Transcript				integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	ENSG00000147138	g.chrX:78427380C>T	30245			LOW								--	--	1				HNSCC(63;0.18)																															1	1			p.Y292Y	NM_032553	NP_115942			1	GP174_HUMAN	GPR174	HGNC	Q9BXC1	GP174_HUMAN					1	912	+			UPI0000050477	292			Cytoplasmic (Potential).		SNV	GPR174,synonymous_variant,p.=,ENST00000276077,NM_032553.1;	uc004edg.1	c.876C>T	912/1258	2	2			c.876C>T						23	SNP	c.(874-876)TAC>TAT	17	17			lung(1)|central_nervous_system(1)	2	Broad	putative purinergic receptor FKSG79			78427380		0.398	ENSG00000147138	6552	g.chrX:78427380C>T		integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled							226.337331	KEEP	42	39	-1	58	72	42	39	-1	228.005645	58	72	0.4	1	0	0	0	0	0	0	1	0	--	--	HNSCC(63;0.18)	0	T				57	GBM-06-0241-TP	p.Y292Y	C	CAGTCATATACTACTTTTCCA	NM_032553	NP_115942	78427380	Q9BXC1	GP174_HUMAN	0			1	912	+	T	T			Silent	292			Cytoplasmic (Potential).			
GPR174	0	broad.mit.edu	GRCh37	X	78427065	78427065	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276077.1:c.561C>A	p.Thr187=	p.T187=	ENST00000276077	NM_032553.1	187	acC/acA	0			1			A	T	uc004edg.1	protein_coding	YES	CCDS14443.1			561/1002									lung(1)|central_nervous_system(1)	2	c.(559-561)ACC>ACA			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24237,hmmpanther:PTHR24237:SF4,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	putative purinergic receptor FKSG79				ENSP00000276077		1-Jan									COSM3406614	1-Jan	.		ENST00000276077	Transcript				integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	ENSG00000147138	g.chrX:78427065C>A	30245			LOW								--	--	1				HNSCC(63;0.18)																															1	1			p.T187T	NM_032553	NP_115942			1	GP174_HUMAN	GPR174	HGNC	Q9BXC1	GP174_HUMAN					1	597	+			UPI0000050477	187			Helical; Name=5; (Potential).		SNV	GPR174,synonymous_variant,p.=,ENST00000276077,NM_032553.1;	uc004edg.1	c.561C>A	597/1258	1	1			c.561C>A						23	SNP	c.(559-561)ACC>ACA	52	52			lung(1)|central_nervous_system(1)	2	Broad	putative purinergic receptor FKSG79			78427065		0.458	ENSG00000147138	6552	g.chrX:78427065C>A		integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled							340.524069	KEEP	58	61	0.512605042	69	69	58	61	0.512605042	340.760754	69	69	0.466102	1	0	0	0	0	0	0	1	0	--	--	HNSCC(63;0.18)	0	A				218	GBM-28-5209-TP	p.T187T	C	TTATGATGACCATTGGCGAGT	NM_032553	NP_115942	78427065	Q9BXC1	GP174_HUMAN	0			1	597	+	A	A			Silent	187			Helical; Name=5; (Potential).			
GPR176	0	broad.mit.edu	GRCh37	15	40093624	40093624	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-2623-01	TCGA-19-2623-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000561100.1:c.1257G>A	p.Ala419=	p.A419=	ENST00000561100	NM_007223.2	419	gcG/gcA	0			1			T	A	uc001zkj.1	protein_coding	YES	CCDS10051.1			1257/1548									ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6	c.(1255-1257)GCG>GCA			hmmpanther:PTHR22752:SF1,hmmpanther:PTHR22752	G protein-coupled receptor 176				ENSP00000453076		3-Mar	1.65E-05	9.63E-05						6.06E-05	rs758625482,COSM3401694	3-Mar	.		ENST00000561100	Transcript			synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	ENSG00000166073	g.chr15:40093624C>T	32370			LOW								--	--	1																																		GPR176_uc010uck.1_Silent_p.A359A	0,1	1			p.A419A	NM_007223	NP_009154			0,1	GP176_HUMAN	GPR176	HGNC	Q14439	GP176_HUMAN		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)	H9NIL9_HUMAN		3	2123	-		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	UPI0000041346	419			Cytoplasmic (Potential).		SNV	GPR176,synonymous_variant,p.=,ENST00000299092,NM_001271854.1;GPR176,synonymous_variant,p.=,ENST00000561100,NM_007223.2;GPR176,synonymous_variant,p.=,ENST00000543580,NM_001271855.1;GPR176,downstream_gene_variant,,ENST00000560729,;GPR176,downstream_gene_variant,,ENST00000558041,;RP11-37C7.1,upstream_gene_variant,,ENST00000558616,;	uc001zkj.1	c.1257G>A	2123/2816	2	2			c.1257G>A						15	SNP	c.(1255-1257)GCG>GCA	21	21			ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6	Broad	G protein-coupled receptor 176			40093624		0.572	ENSG00000166073	6553	g.chr15:40093624C>T	synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity							318.530013	KEEP	69	51	-1	102	105	69	51	-1	323.682874	102	105	0.363057	1	0	0	0	0	0	0	1	0	--	--		0	T			GPR176_uc010uck.1_Silent_p.A359A	163	GBM-19-2623-TP	p.A419A	C	GGGCAGAGGGCGCAAACTGTG	NM_007223	NP_009154	40093624	Q14439	GP176_HUMAN	0		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)	3	2123	-	T	T		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	Silent	419			Cytoplasmic (Potential).			
GPR179	0	broad.mit.edu	GRCh37	17	36486234	36486234	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-14-0787-01	TCGA-14-0787-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342292.4:c.3218A>G	p.His1073Arg	p.H1073R	ENST00000342292	NM_001004334.2	1073	cAc/cGc	0			1			C	H/R	uc002hpz.2	protein_coding	YES	CCDS42308.1			3218/7104									ovary(3)	3	c.(3217-3219)CAC>CGC			hmmpanther:PTHR32546,hmmpanther:PTHR32546:SF7	GPR158-like 1 precursor				ENSP00000345060		11-Nov	8.26E-06					1.50E-05			rs754835795,COSM3402818	11-Nov	.		ENST00000342292	Transcript	1			integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000188888	g.chr17:36486234T>C	31371			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=GP179_HUMAN&rb=884&re=1196&var=H1073R	NA	getma.org/?cm=var&var=hg19,17,36486234,T,C&fts=all	H1073R	--	--	1																																			0,1	1		probably_damaging(0.999)	p.H1073R	NM_001004334	NP_001004334		deleterious(0.04)	0,1	GP179_HUMAN	GPR179	HGNC	Q6PRD1	GP179_HUMAN					11	3239	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	UPI000041A9C2	1073			Cytoplasmic (Potential).		SNV	GPR179,missense_variant,p.His1073Arg,ENST00000342292,NM_001004334.2;GPR179,upstream_gene_variant,,ENST00000584976,;	uc002hpz.2	c.3218A>G	3239/7980	4	4			c.3218A>G						17	SNP	c.(3217-3219)CAC>CGC	48	48			ovary(3)	3	Broad	GPR158-like 1 precursor			36486234		0.567	ENSG00000188888	6554	g.chr17:36486234T>C		integral to membrane|plasma membrane	G-protein coupled receptor activity							160.592565	KEEP	31	24	-1	27	27	31	24	-1	160.702157	27	27	0.536082	1	0	0	0	0	1	0	0	0	--	--		0	C				135	GBM-14-0787-TP	p.H1073R	T	CTTGAGGCTGTGGGATTTAGG	NM_001004334	NP_001004334	36486234	Q6PRD1	GP179_HUMAN	0			11	3239	-	C	C	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	Missense_Mutation	1073			Cytoplasmic (Potential).			
GPR179	0	broad.mit.edu	GRCh37	17	36499303	36499303	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-2624-01	TCGA-19-2624-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342292.4:c.370G>C	p.Glu124Gln	p.E124Q	ENST00000342292	NM_001004334.2	124	Gag/Cag	0			1			G	E/Q	uc002hpz.2	protein_coding	YES	CCDS42308.1			370/7104									ovary(3)	3	c.(370-372)GAG>CAG			hmmpanther:PTHR32546,hmmpanther:PTHR32546:SF7	GPR158-like 1 precursor				ENSP00000345060		11-Jan									COSM2156207	11-Jan	.		ENST00000342292	Transcript	1			integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000188888	g.chr17:36499303C>G	31371			MODERATE		1.24	low	getma.org/?cm=msa&ty=f&p=GP179_HUMAN&rb=1&re=200&var=E124Q	NA	getma.org/?cm=var&var=hg19,17,36499303,C,G&fts=all	E124Q	--	--	1																																			1	1		benign(0.354)	p.E124Q	NM_001004334	NP_001004334		deleterious(0.01)	1	GP179_HUMAN	GPR179	HGNC	Q6PRD1	GP179_HUMAN					1	391	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	UPI000041A9C2	124			Extracellular (Potential).		SNV	GPR179,missense_variant,p.Glu124Gln,ENST00000342292,NM_001004334.2;GPR179,non_coding_transcript_exon_variant,,ENST00000494542,;	uc002hpz.2	c.370G>C	391/7980	3	3			c.370G>C						17	SNP	c.(370-372)GAG>CAG	16	16			ovary(3)	3	Broad	GPR158-like 1 precursor			36499303		0.627	ENSG00000188888	6554	g.chr17:36499303C>G		integral to membrane|plasma membrane	G-protein coupled receptor activity							148.74488	KEEP	23	20	-1	29	29	23	20	-1	149.070052	29	29	0.4375	1	0	0	0	0	1	0	0	0	--	--		0	G				164	GBM-19-2624-TP	p.E124Q	C	ACATCCTCCTCCACACTGGAC	NM_001004334	NP_001004334	36499303	Q6PRD1	GP179_HUMAN	0			1	391	-	G	G	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	Missense_Mutation	124			Extracellular (Potential).			
GPR179	440435		GRCh37	17	36499092	36499092	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000342292.4:c.581C>T	p.Thr194Ile	p.T194I	ENST00000342292	NM_001004334.2	194	aCc/aTc	0																																																																																																																																																																																																																																												
GPR180	0	broad.mit.edu	GRCh37	13	95275364	95275364	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C			TCGA-16-0861-01	TCGA-16-0861-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376958.4:c.896G>C	p.Ser299Thr	p.S299T	ENST00000376958	NM_180989.5	299	aGt/aCt	0			1			C	S/T	uc001vly.2	protein_coding	YES	CCDS9472.1			896/1323									breast(1)	1	c.(895-897)AGT>ACT			Transmembrane_helices:TMhelix,Pfam_domain:PF10192,hmmpanther:PTHR23252:SF26,hmmpanther:PTHR23252	G protein-coupled receptor 180 precursor				ENSP00000366157		9-Jul									COSM3399460	9-Jul	.		ENST00000376958	Transcript				integral to membrane		ENSG00000152749	g.chr13:95275364G>C	28899			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=GP180_HUMAN&rb=141&re=405&var=S299T	NA	getma.org/?cm=var&var=hg19,13,95275364,G,C&fts=all	S299T	--	--	1																																		GPR180_uc001vlz.2_Missense_Mutation_p.S198T|GPR180_uc010afi.2_Missense_Mutation_p.S60T	1	1		benign(0.026)	p.S299T	NM_180989	NP_851320		tolerated(0.15)	1	GP180_HUMAN	GPR180	HGNC	Q86V85	GP180_HUMAN					7	974	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		UPI00001969C8	299			Helical; (Potential).		SNV	GPR180,missense_variant,p.Ser299Thr,ENST00000376958,NM_180989.5;	uc001vly.2	c.896G>C	921/8822	3	3			c.896G>C						13	SNP	c.(895-897)AGT>ACT	60	60			breast(1)	1	Broad	G protein-coupled receptor 180 precursor			95275364		0.299	ENSG00000152749	6556	g.chr13:95275364G>C		integral to membrane								-45.431928	KEEP	3	3	-1	113	125	3	3	-1	12.564024	113	125	0.025751	1	0	0	0	0	1	0	0	0	--	--		0	C			GPR180_uc001vlz.2_Missense_Mutation_p.S198T|GPR180_uc010afi.2_Missense_Mutation_p.S60T	156	GBM-16-0861-TP	p.S299T	G	CTTTTGCAGAGTGTTTTGCTA	NM_180989	NP_851320	95275364	Q86V85	GP180_HUMAN	0			7	974	+	C	C	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		Missense_Mutation	299			Helical; (Potential).			
GPR19	2842	broad.mit.edu	GRCh37	12	12814147	12814155	+	inframe_deletion	In_Frame_Del	DEL	ATTTGGTGG	ATTTGGTGG	-	rs61733942		TCGA-02-0033-01	TCGA-02-0033-01	ATTTGGTGG	ATTTGGTGG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000540510.1:c.1228_1236del	p.Pro410_Asn412del	p.P410_N412del	ENST00000540510		410	CCACCAAAT/-	0			1			-	PPN/-	uc001rar.3	protein_coding		CCDS8652.1			1228-1236/1248									ovary(1)	1	c.(1228-1236)CCACCAAATdel				G protein-coupled receptor 19				ENSP00000333744		4-Apr										4-Apr	.		ENST00000332427	Transcript				integral to plasma membrane	G-protein coupled receptor activity	ENSG00000183150	g.chr12:12814147_12814155delATTTGGTGG	4473			MODERATE								--	--	1																																		GPR19_uc001raq.2_In_Frame_Del_p.PPN410del					p.PPN410del	NM_006143	NP_006134				GPR19_HUMAN	GPR19	HGNC	Q15760	GPR19_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.048)	F5GWU2_HUMAN		2	1421_1429	-		Prostate(47;0.0802)	UPI000013CAB3	410_412			Cytoplasmic (Potential).		deletion	GPR19,inframe_deletion,p.Pro410_Asn412del,ENST00000540510,;GPR19,inframe_deletion,p.Pro410_Asn412del,ENST00000332427,NM_006143.2;GPR19,downstream_gene_variant,,ENST00000540796,;	uc001rar.3	c.1228_1236delCCACCAAAT	1583-1591/1743	5	5			c.1228_1236delCCACCAAAT						12	DEL	c.(1228-1236)CCACCAAATdel	50	50			ovary(1)	1	Broad	G protein-coupled receptor 19			12814155		0.34	ENSG00000183150	6559	g.chr12:12814147_12814155delATTTGGTGG		integral to plasma membrane	G-protein coupled receptor activity																				0.14	1	1	0	1	0	0	0	0	0	--	--		0	-			GPR19_uc001raq.2_In_Frame_Del_p.PPN410del	2	GBM-02-0033-TP	p.PPN410del	ATTTGGTGG	AGACAAAAGTATTTGGTGGATTTGAGTTA	NM_006143	NP_006134	12814147	Q15760	GPR19_HUMAN	0		BRCA - Breast invasive adenocarcinoma(232;0.048)	2	1421_1429	-	-	-		Prostate(47;0.0802)	In_Frame_Del	410_412			Cytoplasmic (Potential).			
GPR20	2843	broad.mit.edu	GRCh37	8	142366995	142366995	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0169-01	TCGA-06-0169-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377741.3:c.1029C>T	p.Ala343=	p.A343=	ENST00000377741	NM_005293.2	343	gcC/gcT	0			1			A	A	uc003ywf.2	protein_coding	YES	CCDS34949.1			1029/1077									upper_aerodigestive_tract(1)	1	c.(1027-1029)GCC>GCT			hmmpanther:PTHR24232,hmmpanther:PTHR24232:SF7	G protein-coupled receptor 20				ENSP00000366970		2-Feb	8.24E-05					6.23E-05		0.000385	rs778872590,COSM2150253	2-Feb	.		ENST00000377741	Transcript				integral to plasma membrane	G-protein coupled receptor activity	ENSG00000204882	g.chr8:142366995G>A	4475			LOW								--	--	1																																			0,1	1			p.A343A	NM_005293	NP_005284			0,1	GPR20_HUMAN	GPR20	HGNC	Q99678	GPR20_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0415)		Q59GP3_HUMAN		2	1118	-	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		UPI00001404A8	343			Cytoplasmic (Potential).		SNV	GPR20,synonymous_variant,p.=,ENST00000377741,NM_005293.2;CTD-3064M3.3,upstream_gene_variant,,ENST00000562459,;	uc003ywf.2	c.1029C>T	1120/1515	2	2			c.1029C>T						8	SNP	c.(1027-1029)GCC>GCT	21	21			upper_aerodigestive_tract(1)	1	Broad	G protein-coupled receptor 20			142366995		0.667	ENSG00000204882	6560	g.chr8:142366995G>A		integral to plasma membrane	G-protein coupled receptor activity							25.595916	KEEP	6	5	-1	20	25	6	5	-1	29.995519	20	25	0.203704	1	0	0	0	0	0	0	1	0	--	--		0	A				34	GBM-06-0169-TP	p.A343A	G	CGTGAGGGCCGGCACTGAGGA	NM_005293	NP_005284	142366995	Q99678	GPR20_HUMAN	0	BRCA - Breast invasive adenocarcinoma(115;0.0415)		2	1118	-	A	A	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		Silent	343			Cytoplasmic (Potential).			
GPR20	2843	broad.mit.edu	GRCh37	8	142367229	142367229	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377741.3:c.795G>T	p.Ala265=	p.A265=	ENST00000377741	NM_005293.2	265	gcG/gcT	0			1			A	A	uc003ywf.2	protein_coding	YES	CCDS34949.1			795/1077									upper_aerodigestive_tract(1)	1	c.(793-795)GCG>GCT			Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24232,hmmpanther:PTHR24232:SF7,Superfamily_domains:SSF81321	G protein-coupled receptor 20				ENSP00000366970		2-Feb									COSM3412787	2-Feb	.		ENST00000377741	Transcript				integral to plasma membrane	G-protein coupled receptor activity	ENSG00000204882	g.chr8:142367229C>A	4475			LOW								--	--	1																																			1	1			p.A265A	NM_005293	NP_005284			1	GPR20_HUMAN	GPR20	HGNC	Q99678	GPR20_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0415)		Q59GP3_HUMAN		2	884	-	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		UPI00001404A8	265			Extracellular (Potential).		SNV	GPR20,synonymous_variant,p.=,ENST00000377741,NM_005293.2;CTD-3064M3.3,upstream_gene_variant,,ENST00000562459,;	uc003ywf.2	c.795G>T	886/1515	2	2			c.795G>T						8	SNP	c.(793-795)GCG>GCT	43	43			upper_aerodigestive_tract(1)	1	Broad	G protein-coupled receptor 20			142367229		0.657	ENSG00000204882	6560	g.chr8:142367229C>A		integral to plasma membrane	G-protein coupled receptor activity							34.5391	KEEP	12	5	0.294117647	18	14	12	5	0.294117647	35.448894	18	14	0.341463	1	0	0	0	0	0	0	1	0	--	--		0	A				62	GBM-06-0649-TP	p.A265A	C	CGGGCCACAGCGCCACGGCCA	NM_005293	NP_005284	142367229	Q99678	GPR20_HUMAN	0	BRCA - Breast invasive adenocarcinoma(115;0.0415)		2	884	-	A	A	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		Silent	265			Extracellular (Potential).			
GPR20	2843		GRCh37	8	142367058	142367058	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000377741.3:c.966C>T	p.Ser322=	p.S322=	ENST00000377741	NM_005293.2	322	agC/agT	0																																																																																																																																																																																																																																												
GPR25	0	broad.mit.edu	GRCh37	1	200842843	200842843	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304244.2:c.678G>A	p.Ser226=	p.S226=	ENST00000304244	NM_005298.3	226	tcG/tcA	0			1			A	S	uc001gvn.1	protein_coding	YES	CCDS1405.1			678/1086									ovary(1)	1	c.(676-678)TCG>TCA			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24228,hmmpanther:PTHR24228:SF9,Superfamily_domains:SSF81321	G protein-coupled receptor 25				ENSP00000301917		1-Jan									COSM3400185	1-Jan	.		ENST00000304244	Transcript				integral to plasma membrane		ENSG00000170128	g.chr1:200842843G>A	4480			LOW								--	--	1																																			1	1			p.S226S	NM_005298	NP_005289			1	GPR25_HUMAN	GPR25	HGNC	O00155	GPR25_HUMAN					1	678	+			UPI000013E957	226			Cytoplasmic (Potential).		SNV	GPR25,synonymous_variant,p.=,ENST00000304244,NM_005298.3;	uc001gvn.1	c.678G>A	761/1224	2	2			c.678G>A						1	SNP	c.(676-678)TCG>TCA	48	48			ovary(1)	1	Broad	G protein-coupled receptor 25			200842843		0.682	ENSG00000170128	6563	g.chr1:200842843G>A		integral to plasma membrane								47.091359	KEEP	12	10	-1	20	16	12	10	-1	47.670538	20	16	0.377778	1	0	0	0	0	0	0	1	0	--	--		0	A				230	GBM-32-1979-TP	p.S226S	G	GCCGCATCTCGCGCCGCCTGC	NM_005298	NP_005289	200842843	O00155	GPR25_HUMAN	0			1	678	+	A	A			Silent	226			Cytoplasmic (Potential).			
GPR27	2850	broad.mit.edu	GRCh37	3	71804047	71804047	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-2565-01	TCGA-06-2565-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304411.2:c.847T>G	p.Cys283Gly	p.C283G	ENST00000304411	NM_018971.1	283	Tgc/Ggc	0			1			G	C/G	uc011bge.1	protein_coding	YES	CCDS2915.1			847/1128									ovary(1)	1	c.(847-849)TGC>GGC			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR19268,hmmpanther:PTHR19268:SF6,Superfamily_domains:SSF81321	G protein-coupled receptor 27				ENSP00000303149		1-Jan	0.000437	0.0009			0.00138	0.000396			rs201847276,COSM1131358	1-Jan	common_variant		ENST00000304411	Transcript				integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000170837	g.chr3:71804047T>G	4482			MODERATE		-0.56	neutral	getma.org/?cm=msa&ty=f&p=GPR27_HUMAN&rb=35&re=337&var=C283G	getma.org/pdb.php?prot=GPR27_HUMAN&from=35&to=337&var=C283G	getma.org/?cm=var&var=hg19,3,71804047,T,G&fts=all	C283G	--	--	1																																		EIF4E3_uc003dox.2_5'Flank|EIF4E3_uc011bgd.1_5'Flank|EIF4E3_uc010hoc.2_5'Flank	0,1	1		benign(0.009)	p.C283G	NM_018971	NP_061844		tolerated(0.58)	0,1	GPR27_HUMAN	GPR27	HGNC	Q9NS67	GPR27_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)	F1DAM3_HUMAN		1	847	+		Prostate(10;0.00899)	UPI0000049802	283			Cytoplasmic (Potential).		SNV	GPR27,missense_variant,p.Cys283Gly,ENST00000304411,NM_018971.1;EIF4E3,upstream_gene_variant,,ENST00000448225,NM_001134649.1,NM_001282886.1;EIF4E3,upstream_gene_variant,,ENST00000295612,;EIF4E3,upstream_gene_variant,,ENST00000421769,NM_173359.4;EIF4E3,upstream_gene_variant,,ENST00000496214,;	uc011bge.1	c.847T>G	847/2447	3	3			c.847T>G						3	SNP	c.(847-849)TGC>GGC	53	53			ovary(1)	1	Broad	G protein-coupled receptor 27			71804047		0.552	ENSG00000170837	6565	g.chr3:71804047T>G		integral to membrane|plasma membrane	G-protein coupled receptor activity							5.852638	KEEP	8	10	-1	16	26	8	10	-1	8.877644	16	26	0.232558	1	0	0	0	0	1	0	0	0	--	--		0	G			EIF4E3_uc003dox.2_5'Flank|EIF4E3_uc011bgd.1_5'Flank|EIF4E3_uc010hoc.2_5'Flank	88	GBM-06-2565-TP	p.C283G	T	GAAGAGGCTGTGCAAGATGTT	NM_018971	NP_061844	71804047	Q9NS67	GPR27_HUMAN	0		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)	1	847	+	G	G		Prostate(10;0.00899)	Missense_Mutation	283			Cytoplasmic (Potential).			
GPR31	0	broad.mit.edu	GRCh37	6	167571202	167571202	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-27-1836-01	TCGA-27-1836-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366834.1:c.118C>G	p.Leu40Val	p.L40V	ENST00000366834	NM_005299.2	40	Ctg/Gtg	0			1			C	L/V	uc011egq.1	protein_coding	YES	CCDS5299.1			118/960										0	c.(118-120)CTG>GTG			PROSITE_profiles:PS50262,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF37,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	G protein-coupled receptor 31				ENSP00000355799		1-Jan									COSM3410785	1-Jan	.		ENST00000366834	Transcript				integral to plasma membrane	G-protein coupled receptor activity	ENSG00000120436	g.chr6:167571202G>C	4486			MODERATE		0.83	low	getma.org/?cm=msa&ty=f&p=GPR31_HUMAN&rb=31&re=282&var=L40V	getma.org/pdb.php?prot=GPR31_HUMAN&from=31&to=282&var=L40V	getma.org/?cm=var&var=hg19,6,167571202,G,C&fts=all	L40V	--	--	1																																			1	1		benign(0.038)	p.L40V	NM_005299	NP_005290		tolerated(0.4)	1	GPR31_HUMAN	GPR31	HGNC	O00270	GPR31_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)			1	118	-		Breast(66;1.53e-05)|Ovarian(120;0.0606)	UPI000007390A	40			Cytoplasmic (Potential).		SNV	GPR31,missense_variant,p.Leu40Val,ENST00000366834,NM_005299.2;TCP10L2,intron_variant,,ENST00000486697,;TCP10L2,intron_variant,,ENST00000539001,;	uc011egq.1	c.118C>G	616/2059	4	4			c.118C>G						6	SNP	c.(118-120)CTG>GTG	34	34				0	Broad	G protein-coupled receptor 31			167571202		0.662	ENSG00000120436	6567	g.chr6:167571202G>C		integral to plasma membrane	G-protein coupled receptor activity							26.632472	KEEP	5	7	-1	16	18	5	7	-1	28.394703	16	18	0.27027	1	0	0	0	0	1	0	0	0	--	--		0	C				195	GBM-27-1836-TP	p.L40V	G	ACCCGGAACAGGAAGGTCCAC	NM_005299	NP_005290	167571202	O00270	GPR31_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)	1	118	-	C	C		Breast(66;1.53e-05)|Ovarian(120;0.0606)	Missense_Mutation	40			Cytoplasmic (Potential).			
GPR32	0	broad.mit.edu	GRCh37	19	51274077	51274077	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01	TCGA-12-0619-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000270590.4:c.220C>T	p.Arg74Cys	p.R74C	ENST00000270590	NM_001506.2	74	Cgc/Tgc	0			1			T	R/C	uc010ycf.1	protein_coding	YES	CCDS12801.1			220/1071									upper_aerodigestive_tract(1)	1	c.(220-222)CGC>TGC			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00526,PROSITE_profiles:PS50262,hmmpanther:PTHR24225,hmmpanther:PTHR24225:SF27,Superfamily_domains:SSF81321	G protein-coupled receptor 32				ENSP00000270590		1-Jan									COSM2153664	1-Jan	.		ENST00000270590	Transcript				integral to plasma membrane	N-formyl peptide receptor activity	ENSG00000142511	g.chr19:51274077C>T	4487			MODERATE		2.06	medium	getma.org/?cm=msa&ty=f&p=GPR32_HUMAN&rb=60&re=316&var=R74C	getma.org/pdb.php?prot=GPR32_HUMAN&from=60&to=316&var=R74C	getma.org/?cm=var&var=hg19,19,51274077,C,T&fts=all	R74C	--	--	1																																			1	1		benign(0.262)	p.R74C	NM_001506	NP_001497		tolerated(0.06)	1	GPR32_HUMAN	GPR32	HGNC	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	H9NIL6_HUMAN		1	220	+		all_neural(266;0.131)	UPI000005045C	74			Cytoplasmic (Potential).		SNV	GPR32,missense_variant,p.Arg74Cys,ENST00000270590,NM_001506.2;	uc010ycf.1	c.220C>T	357/1269	2	2			c.220C>T						19	SNP	c.(220-222)CGC>TGC	35	35			upper_aerodigestive_tract(1)	1	Broad	G protein-coupled receptor 32			51274077		0.572	ENSG00000142511	6568	g.chr19:51274077C>T		integral to plasma membrane	N-formyl peptide receptor activity	Esophageal Squamous(113;152 1581 5732 15840 44398)			Esophageal Squamous(113;152 1581 5732 15840 44398)			147.476047	KEEP	27	24	-1	25	36	27	24	-1	147.682237	25	36	0.45283	1	0	0	0	0	1	0	0	0	--	--		0	T				120	GBM-12-0619-TP	p.R74C	C	CCGTATGGCACGCACGGTCTC	NM_001506	NP_001497	51274077	O75388	GPR32_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	220	+	T	T		all_neural(266;0.131)	Missense_Mutation	74			Cytoplasmic (Potential).			
GPR32	2854		GRCh37	19	51274617	51274617	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000270590.4:c.760C>T	p.Pro254Ser	p.P254S	ENST00000270590	NM_001506.2	254	Ccc/Tcc	0																																																																																																																																																																																																																																												
GPR34	0	broad.mit.edu	GRCh37	X	41555890	41555890	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01	TCGA-19-5954-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378138.5:c.1004G>A	p.Arg335His	p.R335H	ENST00000378138		335	cGc/cAc	0			1			A	R/H	uc004dfp.3	protein_coding		CCDS14258.1			1004/1146									ovary(1)	1	c.(1003-1005)CGC>CAC			Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR24233,hmmpanther:PTHR24233:SF1,Superfamily_domains:SSF81321	G protein-coupled receptor 34				ENSP00000367378		3-Mar									COSM2156761	3-Mar	.		ENST00000378138	Transcript				integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	ENSG00000171659	g.chrX:41555890G>A	4490			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=GPR34_HUMAN&rb=328&re=381&var=R335H	NA	getma.org/?cm=var&var=hg19,X,41555890,G,A&fts=all	R335H	--	--	1																																		CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR34_uc004dfq.3_Missense_Mutation_p.R335H|GPR34_uc010nhg.2_Missense_Mutation_p.R335H|GPR34_uc004dfr.3_Missense_Mutation_p.R335H	1			probably_damaging(0.997)	p.R335H	NM_001097579	NP_001091048		deleterious(0)	1	GPR34_HUMAN	GPR34	HGNC	Q9UPC5	GPR34_HUMAN			Q5VT14_HUMAN,Q3SAH0_HUMAN		3	1288	+			UPI000005044D	335			Cytoplasmic (Potential).		SNV	GPR34,missense_variant,p.Arg335His,ENST00000378142,NM_001097579.1,NM_005300.3;GPR34,missense_variant,p.Arg335His,ENST00000378138,;CASK,intron_variant,,ENST00000318588,;CASK,intron_variant,,ENST00000361962,;CASK,intron_variant,,ENST00000421587,NM_001126055.2;CASK,intron_variant,,ENST00000378163,;CASK,intron_variant,,ENST00000378158,;CASK,intron_variant,,ENST00000378166,NM_003688.3;CASK,intron_variant,,ENST00000442742,NM_001126054.2;CASK,intron_variant,,ENST00000378154,;	uc004dfp.3	c.1004G>A	1179/1815	2	2			c.1004G>A						23	SNP	c.(1003-1005)CGC>CAC	34	34			ovary(1)	1	Broad	G protein-coupled receptor 34			41555890		0.373	ENSG00000171659	6569	g.chrX:41555890G>A		integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled							48.794338	KEEP	9	9	-1	21	18	9	9	-1	49.85379	21	18	0.346154	1	0	0	0	0	1	0	0	0	--	--		0	A			CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR34_uc004dfq.3_Missense_Mutation_p.R335H|GPR34_uc010nhg.2_Missense_Mutation_p.R335H|GPR34_uc004dfr.3_Missense_Mutation_p.R335H	174	GBM-19-5954-TP	p.R335H	G	AGTAACATTCGCAAAATAATG	NM_001097579	NP_001091048	41555890	Q9UPC5	GPR34_HUMAN	0			3	1288	+	A	A			Missense_Mutation	335			Cytoplasmic (Potential).			
GPR34	0	broad.mit.edu	GRCh37	X	41555067	41555067	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-6450-01	TCGA-28-6450-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378138.5:c.181T>C	p.Tyr61His	p.Y61H	ENST00000378138		61	Tac/Cac	0			1			C	Y/H	uc004dfp.3	protein_coding		CCDS14258.1			181/1146									ovary(1)	1	c.(181-183)TAC>CAC			Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR24233,hmmpanther:PTHR24233:SF1,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	G protein-coupled receptor 34				ENSP00000367378		3-Mar									COSM3406375	3-Mar	.		ENST00000378138	Transcript				integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	ENSG00000171659	g.chrX:41555067T>C	4490			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=GPR34_HUMAN&rb=1&re=70&var=Y61H	NA	getma.org/?cm=var&var=hg19,X,41555067,T,C&fts=all	Y61H	--	--	1																																		CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR34_uc004dfq.3_Missense_Mutation_p.Y61H|GPR34_uc010nhg.2_Missense_Mutation_p.Y61H|GPR34_uc004dfr.3_Missense_Mutation_p.Y61H	1			probably_damaging(0.992)	p.Y61H	NM_001097579	NP_001091048		deleterious(0)	1	GPR34_HUMAN	GPR34	HGNC	Q9UPC5	GPR34_HUMAN			Q5VT14_HUMAN,Q3SAH0_HUMAN		3	465	+			UPI000005044D	61			Extracellular (Potential).		SNV	GPR34,missense_variant,p.Tyr61His,ENST00000378142,NM_001097579.1,NM_005300.3;GPR34,missense_variant,p.Tyr61His,ENST00000378138,;CASK,intron_variant,,ENST00000318588,;CASK,intron_variant,,ENST00000361962,;CASK,intron_variant,,ENST00000421587,NM_001126055.2;CASK,intron_variant,,ENST00000378163,;CASK,intron_variant,,ENST00000378158,;CASK,intron_variant,,ENST00000378166,NM_003688.3;CASK,intron_variant,,ENST00000442742,NM_001126054.2;CASK,intron_variant,,ENST00000378154,;	uc004dfp.3	c.181T>C	356/1815	3	3			c.181T>C						23	SNP	c.(181-183)TAC>CAC	4	4			ovary(1)	1	Broad	G protein-coupled receptor 34			41555067		0.398	ENSG00000171659	6569	g.chrX:41555067T>C		integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled							139.90359	KEEP	26	11	-1	7	6	26	11	-1	143.136528	7	6	0.770833	1	0	0	0	0	1	0	0	0	--	--		0	C			CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR34_uc004dfq.3_Missense_Mutation_p.Y61H|GPR34_uc010nhg.2_Missense_Mutation_p.Y61H|GPR34_uc004dfr.3_Missense_Mutation_p.Y61H	227	GBM-28-6450-TP	p.Y61H	T	AACCACATCCTACTCTGTTAT	NM_001097579	NP_001091048	41555067	Q9UPC5	GPR34_HUMAN	0			3	465	+	C	C			Missense_Mutation	61			Extracellular (Potential).			
GPR35	0	broad.mit.edu	GRCh37	2	241556394	241556394	+	intron_variant	Intron	SNP	C	C	T			TCGA-16-1045-01	TCGA-16-1045-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000438013.2:c.-245-227C>T		*82*	ENST00000438013				0			1			T		uc002vzq.1	protein_coding	YES	CCDS56174.1			-/1023									ovary(3)|large_intestine(2)|lung(1)	6	c.(397-399)GCC>GCT				calpain 10 isoform g				ENSP00000415890											COSM3407738		.		ENST00000438013	Transcript	1		actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	ENSG00000178623	g.chr2:241556394C>T	4492			MODIFIER	5-Mar							--	--	1																																		GPR35_uc010fzh.1_Intron|GPR35_uc010fzi.1_Intron	1	1			p.A133A	NM_023089	NP_075577			1	GPR35_HUMAN	GPR35	HGNC	Q9HC96	CAN10_HUMAN		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)			4	576	+		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	UPI0000E6291C	Error:Variant_position_missing_in_Q9HC96_after_alignment					SNV	CAPN10,splice_region_variant,p.=,ENST00000270364,;GPR35,intron_variant,,ENST00000319838,NM_001195381.1;GPR35,intron_variant,,ENST00000438013,;GPR35,intron_variant,,ENST00000403859,NM_001195382.1;	uc002vzq.1	c.399C>T	-/2032	1	1			c.399C>T						2	SNP	c.(397-399)GCC>GCT	2	2			ovary(3)|large_intestine(2)|lung(1)	6	Broad	calpain 10 isoform g			241556394		0	ENSG00000178623	2574	g.chr2:241556394C>T	actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding							30.149565	KEEP	5	6	-1	10	9	5	6	-1	30.450916	10	9	0.384615	1	0	0	0	0	0	0	1	0	--	--		0	T			GPR35_uc010fzh.1_Intron|GPR35_uc010fzi.1_Intron	157	GBM-16-1045-TP	p.A133A	C	taccaacagccacctggggga	NM_023089	NP_075577	241556394	Q9HC96	CAN10_HUMAN	0		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)	4	576	+	T	T		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	Silent	Error:Variant_position_missing_in_Q9HC96_after_alignment						
GPR4	0	broad.mit.edu	GRCh37	19	46094672	46094672	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-0821-01	TCGA-12-0821-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323040.4:c.453G>A	p.Ala151=	p.A151=	ENST00000323040	NM_005282.2	151	gcG/gcA	0			1			T	A	uc002pcm.2	protein_coding	YES	CCDS12669.1			453/1089									ovary(2)	2	c.(451-453)GCG>GCA			Transmembrane_helices:TMhelix,Prints_domain:PR01147,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24232:SF42,hmmpanther:PTHR24232,PROSITE_profiles:PS50262	G protein-coupled receptor 4				ENSP00000319744		2-Feb	5.77E-05					0.000108			rs759854339,COSM3404386	2-Feb	.		ENST00000323040	Transcript				integral to plasma membrane	G-protein coupled receptor activity	ENSG00000177464	g.chr19:46094672C>T	4497			LOW								--	--	1																																		OPA3_uc010xxk.1_Intron	0,1	1			p.A151A	NM_005282	NP_005273			0,1	GPR4_HUMAN	GPR4	HGNC	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)			2	1398	-			UPI0000050428	151			Helical; Name=4; (Potential).		SNV	GPR4,synonymous_variant,p.=,ENST00000323040,NM_005282.2;OPA3,intron_variant,,ENST00000544371,;GPR4,downstream_gene_variant,,ENST00000591614,;	uc002pcm.2	c.453G>A	1398/3048	2	2			c.453G>A						19	SNP	c.(451-453)GCG>GCA	20	20			ovary(2)	2	Broad	G protein-coupled receptor 4			46094672		0.657	ENSG00000177464	6574	g.chr19:46094672C>T		integral to plasma membrane	G-protein coupled receptor activity	Esophageal Squamous(117;181 1612 1673 14956 42937)			Esophageal Squamous(117;181 1612 1673 14956 42937)			379.167606	KEEP	97	51	-1	142	86	97	51	-1	382.059636	142	86	0.398773	1	0	0	0	0	0	0	1	0	--	--		0	T			OPA3_uc010xxk.1_Intron	123	GBM-12-0821-TP	p.A151A	C	GGAACAGGGGCGCCGAGTTGG	NM_005282	NP_005273	46094672	P46093	GPR4_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	2	1398	-	T	T			Silent	151			Helical; Name=4; (Potential).			
GPR4	0	broad.mit.edu	GRCh37	19	46094683	46094683	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1833-01	TCGA-27-1833-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323040.4:c.442G>A	p.Ala148Thr	p.A148T	ENST00000323040	NM_005282.2	148	Gcc/Acc	0			1			T	A/T	uc002pcm.2	protein_coding	YES	CCDS12669.1			442/1089									ovary(2)	2	c.(442-444)GCC>ACC			Transmembrane_helices:TMhelix,Prints_domain:PR01147,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24232:SF42,hmmpanther:PTHR24232,PROSITE_profiles:PS50262	G protein-coupled receptor 4				ENSP00000319744		2-Feb									COSM3404387	2-Feb	.		ENST00000323040	Transcript				integral to plasma membrane	G-protein coupled receptor activity	ENSG00000177464	g.chr19:46094683C>T	4497			MODERATE		1.11	low	getma.org/?cm=msa&ty=f&p=GPR4_HUMAN&rb=34&re=286&var=A148T	getma.org/pdb.php?prot=GPR4_HUMAN&from=34&to=286&var=A148T	getma.org/?cm=var&var=hg19,19,46094683,C,T&fts=all	A148T	--	--	1																																		OPA3_uc010xxk.1_Intron	1	1		probably_damaging(0.98)	p.A148T	NM_005282	NP_005273		tolerated(0.45)	1	GPR4_HUMAN	GPR4	HGNC	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)			2	1387	-			UPI0000050428	148			Helical; Name=4; (Potential).		SNV	GPR4,missense_variant,p.Ala148Thr,ENST00000323040,NM_005282.2;OPA3,intron_variant,,ENST00000544371,;GPR4,downstream_gene_variant,,ENST00000591614,;	uc002pcm.2	c.442G>A	1387/3048	1	1			c.442G>A						19	SNP	c.(442-444)GCC>ACC	13	13			ovary(2)	2	Broad	G protein-coupled receptor 4			46094683		0.672	ENSG00000177464	6574	g.chr19:46094683C>T		integral to plasma membrane	G-protein coupled receptor activity	Esophageal Squamous(117;181 1612 1673 14956 42937)			Esophageal Squamous(117;181 1612 1673 14956 42937)			228.493248	KEEP	42	55	-1	115	106	42	55	-1	238.3502	115	106	0.304498	1	0	0	0	0	1	0	0	0	--	--		0	T			OPA3_uc010xxk.1_Intron	192	GBM-27-1833-TP	p.A148T	C	GCCGAGTTGGCGCCCAGCTCC	NM_005282	NP_005273	46094683	P46093	GPR4_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	2	1387	-	T	T			Missense_Mutation	148			Helical; Name=4; (Potential).			
GPR4	0	broad.mit.edu	GRCh37	19	46094825	46094825	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-27-1833-01	TCGA-27-1833-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323040.4:c.300T>C	p.Asn100=	p.N100=	ENST00000323040	NM_005282.2	100	aaT/aaC	0			1			G	N	uc002pcm.2	protein_coding	YES	CCDS12669.1			300/1089									ovary(2)	2	c.(298-300)AAT>AAC			Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24232:SF42,hmmpanther:PTHR24232,PROSITE_profiles:PS50262	G protein-coupled receptor 4				ENSP00000319744		2-Feb									COSM3404388	2-Feb	.		ENST00000323040	Transcript				integral to plasma membrane	G-protein coupled receptor activity	ENSG00000177464	g.chr19:46094825A>G	4497			LOW								--	--	1																																		OPA3_uc010xxk.1_Intron	1	1			p.N100N	NM_005282	NP_005273			1	GPR4_HUMAN	GPR4	HGNC	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)			2	1245	-			UPI0000050428	100			Helical; Name=3; (Potential).		SNV	GPR4,synonymous_variant,p.=,ENST00000323040,NM_005282.2;OPA3,intron_variant,,ENST00000544371,;GPR4,downstream_gene_variant,,ENST00000591614,;	uc002pcm.2	c.300T>C	1245/3048	4	4			c.300T>C						19	SNP	c.(298-300)AAT>AAC	26	26			ovary(2)	2	Broad	G protein-coupled receptor 4			46094825		0.622	ENSG00000177464	6574	g.chr19:46094825A>G		integral to plasma membrane	G-protein coupled receptor activity	Esophageal Squamous(117;181 1612 1673 14956 42937)			Esophageal Squamous(117;181 1612 1673 14956 42937)			171.15962	KEEP	28	38	-1	95	113	28	38	-1	187.077046	95	113	0.237154	1	0	0	0	0	0	0	1	0	--	--		0	G			OPA3_uc010xxk.1_Intron	192	GBM-27-1833-TP	p.N100N	A	TGATGTAGATATTGGTGTAGA	NM_005282	NP_005273	46094825	P46093	GPR4_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	2	1245	-	G	G			Silent	100			Helical; Name=3; (Potential).			
GPR45	11250	broad.mit.edu	GRCh37	2	105859310	105859310	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258456.1:c.995G>A	p.Arg332His	p.R332H	ENST00000258456	NM_007227.3	332	cGc/cAc	0			1			A	R/H	uc002tco.1	protein_coding	YES	CCDS2066.1			995/1119									ovary(1)|breast(1)|central_nervous_system(1)	3	c.(994-996)CGC>CAC			Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR24245,hmmpanther:PTHR24245:SF4,Superfamily_domains:SSF81321	G protein-coupled receptor 45				ENSP00000258456		1-Jan									COSM148920	1-Jan	.		ENST00000258456	Transcript				integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	ENSG00000135973	g.chr2:105859310G>A	4503			MODERATE		0.83	low	getma.org/?cm=msa&ty=f&p=GPR45_HUMAN&rb=325&re=372&var=R332H	NA	getma.org/?cm=var&var=hg19,2,105859310,G,A&fts=all	R332H	--	--	1																																			1	1		probably_damaging(0.909)	p.R332H	NM_007227	NP_009158		tolerated(0.11)	1	GPR45_HUMAN	GPR45	HGNC	Q9Y5Y3	GPR45_HUMAN			B5B0C1_HUMAN		1	1111	+			UPI000013CFD3	332			Cytoplasmic (Potential).		SNV	GPR45,missense_variant,p.Arg332His,ENST00000258456,NM_007227.3;	uc002tco.1	c.995G>A	1111/1725	1	1			c.995G>A						2	SNP	c.(994-996)CGC>CAC	64	64			ovary(1)|breast(1)|central_nervous_system(1)	3	Broad	G protein-coupled receptor 45			105859310		0.557	ENSG00000135973	6575	g.chr2:105859310G>A		integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding							167.300246	KEEP	27	39	-1	74	92	27	39	-1	174.717346	74	92	0.299517	1	0	0	0	0	1	0	0	0	--	--		0	A				39	GBM-06-0184-TP	p.R332H	G	AAAAAATTCCGCGAGGCCTGC	NM_007227	NP_009158	105859310	Q9Y5Y3	GPR45_HUMAN	0			1	1111	+	A	A			Missense_Mutation	332			Cytoplasmic (Potential).			
GPR45	0	broad.mit.edu	GRCh37	2	105858641	105858641	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-27-2526-01	TCGA-27-2526-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258456.1:c.326T>C	p.Leu109Pro	p.L109P	ENST00000258456	NM_007227.3	109	cTc/cCc	0			1			C	L/P	uc002tco.1	protein_coding	YES	CCDS2066.1			326/1119									ovary(1)|breast(1)|central_nervous_system(1)	3	c.(325-327)CTC>CCC			Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24245,hmmpanther:PTHR24245:SF4,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	G protein-coupled receptor 45				ENSP00000258456		1-Jan									COSM3748086	1-Jan	.		ENST00000258456	Transcript				integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	ENSG00000135973	g.chr2:105858641T>C	4503			MODERATE		1.965	medium	getma.org/?cm=msa&ty=f&p=GPR45_HUMAN&rb=51&re=324&var=L109P	getma.org/pdb.php?prot=GPR45_HUMAN&from=51&to=324&var=L109P	getma.org/?cm=var&var=hg19,2,105858641,T,C&fts=all	L109P	--	--	1																																			1	1		probably_damaging(0.951)	p.L109P	NM_007227	NP_009158		deleterious(0)	1	GPR45_HUMAN	GPR45	HGNC	Q9Y5Y3	GPR45_HUMAN			B5B0C1_HUMAN		1	442	+			UPI000013CFD3	109			Extracellular (Potential).		SNV	GPR45,missense_variant,p.Leu109Pro,ENST00000258456,NM_007227.3;	uc002tco.1	c.326T>C	442/1725	4	4			c.326T>C						2	SNP	c.(325-327)CTC>CCC	48	48			ovary(1)|breast(1)|central_nervous_system(1)	3	Broad	G protein-coupled receptor 45			105858641		0.612	ENSG00000135973	6575	g.chr2:105858641T>C		integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding							-17.854473	KEEP	1	2	-1	69	68	1	2	-1	6.956285	69	68	0.029412	1	0	0	0	0	1	0	0	0	--	--		0	C				203	GBM-27-2526-TP	p.L109P	T	TTCTGCCGCCTCTCAGCCACG	NM_007227	NP_009158	105858641	Q9Y5Y3	GPR45_HUMAN	0			1	442	+	C	C			Missense_Mutation	109			Extracellular (Potential).			
GPR50	9248	broad.mit.edu	GRCh37	X	150348278	150348278	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0216-01	TCGA-06-0216-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000218316.3:c.223A>G	p.Met75Val	p.M75V	ENST00000218316	NM_004224.3	75	Atg/Gtg	0			1			G	M/V	uc010ntg.1	protein_coding	YES	CCDS44012.1			223/1854									large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	c.(223-225)ATG>GTG			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF51,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	G protein-coupled receptor 50				ENSP00000218316		2-Feb									COSM2150891,COSM2150890	2-Feb	.		ENST00000218316	Transcript			cell-cell signaling	integral to plasma membrane	melatonin receptor activity	ENSG00000102195	g.chrX:150348278A>G	4506			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=MTR1L_HUMAN&rb=45&re=294&var=M75V	getma.org/pdb.php?prot=MTR1L_HUMAN&from=45&to=294&var=M75V	getma.org/?cm=var&var=hg19,X,150348278,A,G&fts=all	M75V	--	--	1																																		uc004fes.1_5'Flank|GPR50_uc011myc.1_Missense_Mutation_p.M75V	1,1	1		benign(0.02)	p.M75V	NM_004224	NP_004215		tolerated(0.13)	1,1	MTR1L_HUMAN	GPR50	HGNC	Q13585	MTR1L_HUMAN					2	358	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000013C755	75			Helical; Name=2; (Potential).		SNV	GPR50,missense_variant,p.Met75Val,ENST00000218316,NM_004224.3;AF003625.3,upstream_gene_variant,,ENST00000602313,;GPR50-AS1,upstream_gene_variant,,ENST00000454196,;	uc010ntg.1	c.223A>G	292/1951	4	4			c.223A>G						23	SNP	c.(223-225)ATG>GTG	17	17			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Broad	G protein-coupled receptor 50			150348278		0.507	ENSG00000102195	6576	g.chrX:150348278A>G	cell-cell signaling	integral to plasma membrane	melatonin receptor activity							479.174321	KEEP	121	68	-1	276	151	121	68	-1	493.941614	276	151	0.318091	1	0	0	0	0	1	0	0	0	--	--		0	G			uc004fes.1_5'Flank|GPR50_uc011myc.1_Missense_Mutation_p.M75V	51	GBM-06-0216-TP	p.M75V	A	TGTGGCCGATATGCTGGTGGC	NM_004224	NP_004215	150348278	Q13585	MTR1L_HUMAN	0			2	358	+	G	G	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	75			Helical; Name=2; (Potential).			
GPR50	0	broad.mit.edu	GRCh37	X	150349759	150349759	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-2527-01	TCGA-27-2527-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000218316.3:c.1704C>T	p.Ala568=	p.A568=	ENST00000218316	NM_004224.3	568	gcC/gcT	0			1			T	A	uc010ntg.1	protein_coding	YES	CCDS44012.1			1704/1854									large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	c.(1702-1704)GCC>GCT				G protein-coupled receptor 50				ENSP00000218316		2-Feb	2.48E-05	0.000127		0.000151					rs780914031,COSM2157300,COSM2157299	2-Feb	.		ENST00000218316	Transcript			cell-cell signaling	integral to plasma membrane	melatonin receptor activity	ENSG00000102195	g.chrX:150349759C>T	4506			LOW								--	--	1																																			0,1,1	1			p.A568A	NM_004224	NP_004215			0,1,1	MTR1L_HUMAN	GPR50	HGNC	Q13585	MTR1L_HUMAN					2	1839	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000013C755	568			Cytoplasmic (Potential).|Pro-rich.		SNV	GPR50,synonymous_variant,p.=,ENST00000218316,NM_004224.3;AF003625.3,upstream_gene_variant,,ENST00000602313,;GPR50-AS1,upstream_gene_variant,,ENST00000454196,;	uc010ntg.1	c.1704C>T	1773/1951	2	2			c.1704C>T						23	SNP	c.(1702-1704)GCC>GCT	33	33			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Broad	G protein-coupled receptor 50			150349759		0.602	ENSG00000102195	6576	g.chrX:150349759C>T	cell-cell signaling	integral to plasma membrane	melatonin receptor activity							109.978475	KEEP	15	24	-1	31	44	15	24	-1	111.595842	31	44	0.363636	1	0	0	0	0	0	0	1	0	--	--		0	T				204	GBM-27-2527-TP	p.A568A	C	CTAGCCCTGCCGCTGGGCCCA	NM_004224	NP_004215	150349759	Q13585	MTR1L_HUMAN	0			2	1839	+	T	T	Acute lymphoblastic leukemia(192;6.56e-05)		Silent	568			Cytoplasmic (Potential).|Pro-rich.			
GPR52	9293	broad.mit.edu	GRCh37	1	174417940	174417940	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01	TCGA-02-2486-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367685.2:c.691C>T	p.Arg231Cys	p.R231C	ENST00000367685	NM_005684.4	231	Cgt/Tgt	0			1			T	R/C	uc001gka.1	protein_coding	YES	CCDS30941.1			691/1086									skin(1)	1	c.(691-693)CGT>TGT			Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF248,Superfamily_domains:SSF81321	G protein-coupled receptor 52				ENSP00000356658		1-Jan	2.47E-05					3.00E-05		6.06E-05	rs746603649,COSM3400012	1-Jan	.		ENST00000367685	Transcript				integral to plasma membrane	G-protein coupled receptor activity	ENSG00000203737	g.chr1:174417940C>T	4508			MODERATE		1.505	low	getma.org/?cm=msa&ty=f&p=GPR52_HUMAN&rb=57&re=317&var=R231C	getma.org/pdb.php?prot=GPR52_HUMAN&from=57&to=317&var=R231C	getma.org/?cm=var&var=hg19,1,174417940,C,T&fts=all	R231C	--	--	1																																		RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron|uc010pmu.1_RNA	0,1	1		probably_damaging(0.932)	p.R231C	NM_005684	NP_005675		deleterious(0)	0,1	GPR52_HUMAN	GPR52	HGNC	Q9Y2T5	GPR52_HUMAN			F2YGU0_HUMAN		1	729	+			UPI0000153A3C	231			Cytoplasmic (Potential).		SNV	GPR52,missense_variant,p.Arg231Cys,ENST00000367685,NM_005684.4;RABGAP1L,intron_variant,,ENST00000251507,NM_014857.4;RABGAP1L,intron_variant,,ENST00000357444,;RABGAP1L,intron_variant,,ENST00000367689,;RABGAP1L,intron_variant,,ENST00000367690,;RABGAP1L,intron_variant,,ENST00000526253,;	uc001gka.1	c.691C>T	729/1472	1	1			c.691C>T						1	SNP	c.(691-693)CGT>TGT	2	2			skin(1)	1	Broad	G protein-coupled receptor 52			174417940		0.463	ENSG00000203737	6577	g.chr1:174417940C>T		integral to plasma membrane	G-protein coupled receptor activity	Ovarian(92;924 1390 1930 16467 40583)			Ovarian(92;924 1390 1930 16467 40583)			399.87898	KEEP	68	73	-1	139	138	68	73	-1	409.050509	139	138	0.339152	1	0	0	0	0	1	0	0	0	--	--		0	T			RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron|uc010pmu.1_RNA	8	GBM-02-2486-TP	p.R231C	C	CAAAATTTGCCGTCAGCACAC	NM_005684	NP_005675	174417940	Q9Y2T5	GPR52_HUMAN	0			1	729	+	T	T			Missense_Mutation	231			Cytoplasmic (Potential).			
GPR52	9293		GRCh37	1	174417320	174417320	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000367685.2:c.71G>A	p.Arg24His	p.R24H	ENST00000367685	NM_005684.4	24	cGt/cAt	0																																																																																																																																																																																																																																												
GPR56	0	broad.mit.edu	GRCh37	16	57688009	57688009	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5412-01	TCGA-06-5412-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388812.4:c.732C>T	p.Ala244=	p.A244=	ENST00000388812		244	gcC/gcT	0	T:0.0002	T:0	1	T:0.0014		T	A	uc002emb.2	protein_coding		CCDS32460.1			732/2082										0	c.(730-732)GCC>GCT			hmmpanther:PTHR12011:SF45,hmmpanther:PTHR12011	G protein-coupled receptor 56 isoform a		T:0	T:0.0001	ENSP00000456794	T:0	15-Jun	2.47E-05	9.81E-05	8.67E-05			1.52E-05			rs374209597,COSM3402387	15-Jun	.		ENST00000567835	Transcript	1	T:0.0002	brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity	ENSG00000205336	g.chr16:57688009C>T	4512			LOW								--	--	1																																		GPR56_uc002elz.1_Silent_p.A74A|GPR56_uc002ema.1_Silent_p.A69A|GPR56_uc002emc.2_Silent_p.A244A|GPR56_uc002emf.2_Silent_p.A244A|GPR56_uc010vhs.1_Silent_p.A244A|GPR56_uc002emd.2_Silent_p.A244A|GPR56_uc002eme.2_Silent_p.A244A|GPR56_uc010vht.1_Silent_p.A249A|GPR56_uc002emg.3_Silent_p.A244A|GPR56_uc010vhu.1_Silent_p.A69A	0,1				p.A244A	NM_005682	NP_005673	T:0		0,1	GPR56_HUMAN	GPR56	HGNC	Q9Y653	GPR56_HUMAN			H3BVE9_HUMAN,H3BVD3_HUMAN,H3BV72_HUMAN,H3BV52_HUMAN,H3BUH2_HUMAN,H3BTK9_HUMAN,H3BTH7_HUMAN,H3BTD2_HUMAN,H3BT88_HUMAN,H3BSR1_HUMAN,H3BSN7_HUMAN,H3BSN3_HUMAN,H3BSB8_HUMAN,H3BS94_HUMAN,H3BS14_HUMAN,H3BRZ4_HUMAN,H3BRI7_HUMAN,H3BRH0_HUMAN,H3BRB4_HUMAN,H3BRA1_HUMAN,H3BQZ1_HUMAN,H3BQW4_HUMAN,H3BQ46_HUMAN,H3BNN3_HUMAN,H3BMF8_HUMAN		6	1024	+			UPI0000047817	244			Extracellular (Potential).		SNV	GPR56,synonymous_variant,p.=,ENST00000562631,;GPR56,synonymous_variant,p.=,ENST00000388812,;GPR56,synonymous_variant,p.=,ENST00000538815,NM_001145772.1,NM_001145771.1,NM_201524.2;GPR56,synonymous_variant,p.=,ENST00000388813,;GPR56,synonymous_variant,p.=,ENST00000456916,NM_201525.2,NM_001145773.1;GPR56,synonymous_variant,p.=,ENST00000562558,;GPR56,synonymous_variant,p.=,ENST00000568908,NM_005682.5,NM_001145770.1;GPR56,synonymous_variant,p.=,ENST00000540164,NM_001145774.1;GPR56,synonymous_variant,p.=,ENST00000567835,;GPR56,synonymous_variant,p.=,ENST00000568909,;GPR56,synonymous_variant,p.=,ENST00000379696,;GPR56,synonymous_variant,p.=,ENST00000379694,;GPR56,synonymous_variant,p.=,ENST00000544297,;GPR56,synonymous_variant,p.=,ENST00000561988,;GPR56,synonymous_variant,p.=,ENST00000565391,;GPR56,downstream_gene_variant,,ENST00000566271,;GPR56,downstream_gene_variant,,ENST00000561833,;GPR56,downstream_gene_variant,,ENST00000566169,;GPR56,downstream_gene_variant,,ENST00000569101,;GPR56,downstream_gene_variant,,ENST00000562467,;GPR56,downstream_gene_variant,,ENST00000567154,;GPR56,downstream_gene_variant,,ENST00000568234,;GPR56,downstream_gene_variant,,ENST00000561969,;GPR56,downstream_gene_variant,,ENST00000567915,;GPR56,downstream_gene_variant,,ENST00000565314,;GPR56,downstream_gene_variant,,ENST00000563862,;GPR56,downstream_gene_variant,,ENST00000566164,;GPR56,downstream_gene_variant,,ENST00000561696,;GPR56,downstream_gene_variant,,ENST00000567702,;GPR56,downstream_gene_variant,,ENST00000563445,;GPR56,downstream_gene_variant,,ENST00000565770,;GPR56,downstream_gene_variant,,ENST00000568791,;GPR56,downstream_gene_variant,,ENST00000569494,;GPR56,downstream_gene_variant,,ENST00000563414,;GPR56,downstream_gene_variant,,ENST00000561782,;GPR56,downstream_gene_variant,,ENST00000566123,;GPR56,downstream_gene_variant,,ENST00000569154,;GPR56,downstream_gene_variant,,ENST00000564729,;GPR56,downstream_gene_variant,,ENST00000565976,;GPR56,downstream_gene_variant,,ENST00000567553,;GPR56,downstream_gene_variant,,ENST00000566508,;GPR56,downstream_gene_variant,,ENST00000563548,;GPR56,downstream_gene_variant,,ENST00000563374,;GPR56,downstream_gene_variant,,ENST00000565013,;GPR56,downstream_gene_variant,,ENST00000567397,;GPR56,downstream_gene_variant,,ENST00000568074,;GPR56,downstream_gene_variant,,ENST00000565587,;GPR56,downstream_gene_variant,,ENST00000569372,;GPR56,downstream_gene_variant,,ENST00000565338,;GPR56,downstream_gene_variant,,ENST00000568531,;GPR56,downstream_gene_variant,,ENST00000564103,;GPR56,downstream_gene_variant,,ENST00000566778,;GPR56,downstream_gene_variant,,ENST00000568618,;GPR56,downstream_gene_variant,,ENST00000570044,;GPR56,downstream_gene_variant,,ENST00000568979,;GPR56,downstream_gene_variant,,ENST00000564783,;GPR56,downstream_gene_variant,,ENST00000564338,;GPR56,downstream_gene_variant,,ENST00000566187,;GPR56,downstream_gene_variant,,ENST00000568157,;GPR56,downstream_gene_variant,,ENST00000564722,;GPR56,downstream_gene_variant,,ENST00000564360,;GPR56,downstream_gene_variant,,ENST00000569158,;GPR56,downstream_gene_variant,,ENST00000562003,;GPR56,downstream_gene_variant,,ENST00000562414,;GPR56,downstream_gene_variant,,ENST00000562682,;GPR56,downstream_gene_variant,,ENST00000569531,;GPR56,downstream_gene_variant,,ENST00000564912,;GPR56,downstream_gene_variant,,ENST00000566888,;GPR56,downstream_gene_variant,,ENST00000569132,;GPR56,downstream_gene_variant,,ENST00000569992,;GPR56,downstream_gene_variant,,ENST00000568700,;GPR56,downstream_gene_variant,,ENST00000562673,;GPR56,downstream_gene_variant,,ENST00000562608,;GPR56,downstream_gene_variant,,ENST00000561872,;GPR56,downstream_gene_variant,,ENST00000562101,;GPR56,3_prime_UTR_variant,,ENST00000564907,;GPR56,3_prime_UTR_variant,,ENST00000565539,;GPR56,downstream_gene_variant,,ENST00000568645,;GPR56,downstream_gene_variant,,ENST00000563007,;GPR56,downstream_gene_variant,,ENST00000565505,;	uc002emb.2	c.732C>T	945/3741	1	1			c.732C>T						16	SNP	c.(730-732)GCC>GCT	11	11				0	Broad	G protein-coupled receptor 56 isoform a			57688009		0.662	ENSG00000205336	6579	g.chr16:57688009C>T	brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity							11.418522	KEEP	7	4	-1	45	46	7	4	-1	25.433205	45	46	0.114583	1	0	0	0	0	0	0	1	0	--	--		0	T			GPR56_uc002elz.1_Silent_p.A74A|GPR56_uc002ema.1_Silent_p.A69A|GPR56_uc002emc.2_Silent_p.A244A|GPR56_uc002emf.2_Silent_p.A244A|GPR56_uc010vhs.1_Silent_p.A244A|GPR56_uc002emd.2_Silent_p.A244A|GPR56_uc002eme.2_Silent_p.A244A|GPR56_uc010vht.1_Silent_p.A249A|GPR56_uc002emg.3_Silent_p.A244A|GPR56_uc010vhu.1_Silent_p.A69A	95	GBM-06-5412-TP	p.A244A	C	AGCCCACAGCCGGCCTCCAGG	NM_005682	NP_005673	57688009	Q9Y653	GPR56_HUMAN	0			6	1024	+	T	T			Silent	244			Extracellular (Potential).			
GPR61	0	broad.mit.edu	GRCh37	1	110086728	110086728	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01	TCGA-14-3476-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000404129.2:c.1084C>A	p.Pro362Thr	p.P362T	ENST00000404129		362	Cca/Aca	0			1			A	P/T	uc001dxy.2	nonsense_mediated_decay		CCDS801.1			1084/1356									central_nervous_system(2)	2	c.(1084-1086)CCA>ACA			Gene3D:1.20.1070.10,hmmpanther:PTHR22752,hmmpanther:PTHR22752:SF5,Superfamily_domains:SSF81321	G protein-coupled receptor 61				ENSP00000385422		3-Feb									COSM3399527	3-Feb	.		ENST00000404129	Transcript				integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000156097	g.chr1:110086728C>A	13300			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=GPR61_HUMAN&rb=342&re=451&var=P362T	NA	getma.org/?cm=var&var=hg19,1,110086728,C,A&fts=all	P362T	--	--	1																																			1			benign(0.001)	p.P362T	NM_031936	NP_114142		tolerated(0.63)	1	GPR61_HUMAN	GPR61	HGNC	Q9BZJ8	GPR61_HUMAN		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	Q59GL3_HUMAN,G4XH66_HUMAN		2	1767	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	UPI000003BCCB	362			Cytoplasmic (Potential).		SNV	GPR61,missense_variant,p.Pro362Thr,ENST00000527748,NM_031936.4;GNAI3,upstream_gene_variant,,ENST00000369851,NM_006496.3;RP5-1160K1.8,upstream_gene_variant,,ENST00000526411,;GPR61,downstream_gene_variant,,ENST00000533959,;GPR61,upstream_gene_variant,,ENST00000526744,;GPR61,missense_variant,p.Pro362Thr,ENST00000404129,;GPR61,missense_variant,p.Pro362Thr,ENST00000469383,;	uc001dxy.2	c.1084C>A	1767/2834	2	2			c.1084C>A						1	SNP	c.(1084-1086)CCA>ACA	17	17			central_nervous_system(2)	2	Broad	G protein-coupled receptor 61			110086728		0.557	ENSG00000156097	6581	g.chr1:110086728C>A		integral to membrane|plasma membrane	G-protein coupled receptor activity							-21.288602	KEEP	2	2	0.5	70	71	2	2	0.5	7.21326	70	71	0.033333	1	0	0	0	0	1	0	0	0	--	--		0	A				151	GBM-14-3476-TP	p.P362T	C	CTTCTTCAAGCCAGCTCCAGA	NM_031936	NP_114142	110086728	Q9BZJ8	GPR61_HUMAN	0		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	1767	+	A	A		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	Missense_Mutation	362			Cytoplasmic (Potential).			
GPR61	0	broad.mit.edu	GRCh37	1	110086040	110086040	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	G	G	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000404129.2:c.396G>A	p.Ser132=	p.S132=	ENST00000404129		132	tcG/tcA	0			1			A	S	uc001dxy.2	nonsense_mediated_decay		CCDS801.1			396/1356									central_nervous_system(2)	2	c.(394-396)TCG>TCA			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR22752,hmmpanther:PTHR22752:SF5,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	G protein-coupled receptor 61				ENSP00000385422		3-Feb	8.24E-06				0.000151				rs747436555,COSM3399526	3-Feb	.		ENST00000404129	Transcript				integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000156097	g.chr1:110086040G>A	13300			LOW								--	--	1																																			0,1				p.S132S	NM_031936	NP_114142			0,1	GPR61_HUMAN	GPR61	HGNC	Q9BZJ8	GPR61_HUMAN		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	Q59GL3_HUMAN,G4XH66_HUMAN		2	1079	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	UPI000003BCCB	132			Helical; Name=3; (Potential).		SNV	GPR61,synonymous_variant,p.=,ENST00000527748,NM_031936.4;RP5-1160K1.8,non_coding_transcript_exon_variant,,ENST00000526411,;GPR61,upstream_gene_variant,,ENST00000526744,;GPR61,downstream_gene_variant,,ENST00000533959,;GPR61,synonymous_variant,p.=,ENST00000404129,;GPR61,synonymous_variant,p.=,ENST00000469383,;	uc001dxy.2	c.396G>A	1079/2834	1	1			c.396G>A						1	SNP	c.(394-396)TCG>TCA	53	53			central_nervous_system(2)	2	Broad	G protein-coupled receptor 61			110086040		0.607	ENSG00000156097	6581	g.chr1:110086040G>A		integral to membrane|plasma membrane	G-protein coupled receptor activity							154.279462	KEEP	38	19	-1	79	45	38	19	-1	158.165761	79	45	0.331169	1	0	0	0	0	0	0	1	0	--	--		0	A				162	GBM-19-2620-TP	p.S132S	G	CCATCCTCTCGGTGTCAGCCA	NM_031936	NP_114142	110086040	Q9BZJ8	GPR61_HUMAN	0		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	1079	+	A	A		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	Silent	132			Helical; Name=3; (Potential).			
GPR64	0	broad.mit.edu	GRCh37	X	19025360	19025360	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-27-1836-01	TCGA-27-1836-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379869.3:c.1682delC	p.Pro561ArgfsTer6	p.P561Rfs*6	ENST00000379869	NM_001079858.2	561	cCg/cg	0			1			-	P/X	uc004cyx.2	protein_coding	YES	CCDS43923.1			1682/3054										0	c.(1681-1683)CCGfs			hmmpanther:PTHR12011:SF264,hmmpanther:PTHR12011	G protein-coupled receptor 64 isoform 1				ENSP00000369198		20/29										20/29	.		ENST00000379869	Transcript			neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	ENSG00000173698	g.chrX:19025360delG	4516			HIGH								--	--	1																																		GPR64_uc004cyy.2_Frame_Shift_Del_p.P558fs|GPR64_uc004cyz.2_Frame_Shift_Del_p.P547fs|GPR64_uc004czb.2_Frame_Shift_Del_p.P561fs|GPR64_uc004czc.2_Frame_Shift_Del_p.P545fs|GPR64_uc004czd.2_Frame_Shift_Del_p.P537fs|GPR64_uc004cze.2_Frame_Shift_Del_p.P531fs|GPR64_uc004czf.2_Frame_Shift_Del_p.P523fs|GPR64_uc004cza.2_Frame_Shift_Del_p.P539fs|GPR64_uc004cyw.2_Frame_Shift_Del_p.P545fs|GPR64_uc010nfj.2_Intron		1			p.P561fs	NM_001079858	NP_001073327				GPR64_HUMAN	GPR64	HGNC	Q8IZP9	GPR64_HUMAN					20	1846	-	Hepatocellular(33;0.183)		UPI000021246C	561			Extracellular (Potential).		deletion	GPR64,frameshift_variant,p.Pro545ArgfsTer6,ENST00000379878,NM_001184833.1;GPR64,frameshift_variant,p.Pro545ArgfsTer6,ENST00000354791,;GPR64,frameshift_variant,p.Pro537ArgfsTer6,ENST00000379876,NM_001184836.1,NM_001184835.1;GPR64,frameshift_variant,p.Pro561ArgfsTer6,ENST00000379869,NM_001079858.2,NM_005756.3;GPR64,frameshift_variant,p.Pro539ArgfsTer6,ENST00000360279,NM_001079860.2;GPR64,frameshift_variant,p.Pro561ArgfsTer6,ENST00000379873,NM_001184834.1;GPR64,frameshift_variant,p.Pro531ArgfsTer6,ENST00000357544,NM_001184837.1;GPR64,frameshift_variant,p.Pro558ArgfsTer6,ENST00000357991,;GPR64,frameshift_variant,p.Pro547ArgfsTer6,ENST00000356606,NM_001079859.2;GPR64,intron_variant,,ENST00000340581,;	uc004cyx.2	c.1682delC	1846/4768	5	5			c.1682delC						23	DEL	c.(1681-1683)CCGfs	47	47				0	Broad	G protein-coupled receptor 64 isoform 1			19025360		0.502	ENSG00000173698	6584	g.chrX:19025360delG	neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity																				0.27	1	1	0	1	0	0	0	0	0	--	--		0	-			GPR64_uc004cyy.2_Frame_Shift_Del_p.P558fs|GPR64_uc004cyz.2_Frame_Shift_Del_p.P547fs|GPR64_uc004czb.2_Frame_Shift_Del_p.P561fs|GPR64_uc004czc.2_Frame_Shift_Del_p.P545fs|GPR64_uc004czd.2_Frame_Shift_Del_p.P537fs|GPR64_uc004cze.2_Frame_Shift_Del_p.P531fs|GPR64_uc004czf.2_Frame_Shift_Del_p.P523fs|GPR64_uc004cza.2_Frame_Shift_Del_p.P539fs|GPR64_uc004cyw.2_Frame_Shift_Del_p.P545fs|GPR64_uc010nfj.2_Intron	195	GBM-27-1836-TP	p.P561fs	G	CACCTGGCTCGGGTTGATGTG	NM_001079858	NP_001073327	19025360	Q8IZP9	GPR64_HUMAN	0			20	1846	-	-	-	Hepatocellular(33;0.183)		Frame_Shift_Del	561			Extracellular (Potential).			
GPR65	8477	broad.mit.edu	GRCh37	14	88478002	88478002	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0125-01	TCGA-06-0125-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267549.3:c.811A>T	p.Met271Leu	p.M271L	ENST00000267549	NM_003608.3	271	Atg/Ttg	0			1			T	M/L	uc001xvv.2	protein_coding	YES	CCDS9879.1			811/1014										0	c.(811-813)ATG>TTG			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR01649,PROSITE_profiles:PS50262,hmmpanther:PTHR24232,hmmpanther:PTHR24232:SF36,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	G protein-coupled receptor 65				ENSP00000267549		2-Feb									COSM2149357	2-Feb	.		ENST00000267549	Transcript			actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	ENSG00000140030	g.chr14:88478002A>T	4517			MODERATE		0.06	neutral	getma.org/?cm=msa&ty=f&p=PSYR_HUMAN&rb=31&re=290&var=M271L	getma.org/pdb.php?prot=PSYR_HUMAN&from=31&to=290&var=M271L	getma.org/?cm=var&var=hg19,14,88478002,A,T&fts=all	M271L	--	--	1																																			1	1		benign(0.003)	p.M271L	NM_003608	NP_003599		tolerated(0.41)	1	PSYR_HUMAN	GPR65	HGNC	Q8IYL9	PSYR_HUMAN			B5B0C2_HUMAN		2	1341	+			UPI000007422C	271			Extracellular (Potential).		SNV	GPR65,missense_variant,p.Met271Leu,ENST00000267549,NM_003608.3;RP11-300J18.2,intron_variant,,ENST00000554433,;	uc001xvv.2	c.811A>T	1369/1786	1	1			c.811A>T						14	SNP	c.(811-813)ATG>TTG	1	1				0	Broad	G protein-coupled receptor 65			88478002		0.383	ENSG00000140030	6585	g.chr14:88478002A>T	actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity							187.974202	KEEP	34	28	-1	48	41	34	28	-1	188.985098	48	41	0.410959	1	0	0	0	0	1	0	0	0	--	--		0	T				12	GBM-06-0125-TP	p.M271L	A	AACTTACACAATGTATAGAAT	NM_003608	NP_003599	88478002	Q8IYL9	PSYR_HUMAN	0			2	1341	+	T	T			Missense_Mutation	271			Extracellular (Potential).			
GPR68	8111	broad.mit.edu	GRCh37	14	91700713	91700713	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-01	TCGA-06-0190-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000531499.2:c.682C>T	p.Arg228Trp	p.R228W	ENST00000531499		228	Cgg/Tgg	0			1			A	R/W	uc001xzg.2	protein_coding	YES	CCDS9894.2			682/1098									kidney(1)	1	c.(682-684)CGG>TGG			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24234,hmmpanther:PTHR24234:SF5,Superfamily_domains:SSF81321	G protein-coupled receptor 68				ENSP00000434045		2-Feb									COSM3401514	2-Feb	.		ENST00000531499	Transcript			inflammatory response	integral to plasma membrane	G-protein coupled receptor activity	ENSG00000119714	g.chr14:91700713G>A	4519			MODERATE		2.38	medium	getma.org/?cm=msa&ty=f&p=OGR1_HUMAN&rb=38&re=286&var=R228W	getma.org/pdb.php?prot=OGR1_HUMAN&from=38&to=286&var=R228W	getma.org/?cm=var&var=hg19,14,91700713,G,A&fts=all	R228W	--	--	1																																		GPR68_uc001xzh.2_Missense_Mutation_p.R238W	1	1		benign(0.429)	p.R228W	NM_003485	NP_003476		deleterious(0)	1	OGR1_HUMAN	GPR68	HGNC	Q15743	OGR1_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	E9PNU7_HUMAN		2	1023	-		all_cancers(154;0.0555)	UPI000005042A	228			Cytoplasmic (Potential).		SNV	GPR68,missense_variant,p.Arg228Trp,ENST00000531499,;GPR68,missense_variant,p.Arg228Trp,ENST00000535815,NM_001177676.1;GPR68,missense_variant,p.Arg238Trp,ENST00000238699,NM_003485.3;GPR68,missense_variant,p.Arg228Trp,ENST00000529102,;GPR68,downstream_gene_variant,,ENST00000529300,;	uc001xzg.2	c.682C>T	1022/2859	1	1			c.682C>T						14	SNP	c.(682-684)CGG>TGG	61	61			kidney(1)	1	Broad	G protein-coupled receptor 68			91700713		0.677	ENSG00000119714	6586	g.chr14:91700713G>A	inflammatory response	integral to plasma membrane	G-protein coupled receptor activity							24.799126	KEEP	4	7	-1	9	7	4	7	-1	24.81188	9	7	0.470588	1	0	0	0	0	1	0	0	0	--	--		0	A			GPR68_uc001xzh.2_Missense_Mutation_p.R238W	43	GBM-06-0190-TP	p.R228W	G	AGCACCAGCCGCTGGATCTGG	NM_003485	NP_003476	91700713	Q15743	OGR1_HUMAN	0		COAD - Colon adenocarcinoma(157;0.21)	2	1023	-	A	A		all_cancers(154;0.0555)	Missense_Mutation	228			Cytoplasmic (Potential).			
GPR75	10936	broad.mit.edu	GRCh37	2	54080319	54080320	+	inframe_insertion	In_Frame_Ins	INS	-	-	TGCACTAAG			TCGA-06-0195-01	TCGA-06-0195-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394705.2:c.1566_1574dup	p.Val524_Gln525insHisLeuVal	p.V524_Q525insHLV	ENST00000394705	NM_006794.3	525	cag/caCTTAGTGCAg	0			1			TGCACTAAG	Q/HLVQ	uc002rxo.3	protein_coding	YES	CCDS1849.1			1574-1575/1623									ovary(1)|skin(1)	2	c.(1573-1575)CAG>CACTTAGTGCAG				G protein-coupled receptor 75				ENSP00000378195		2-Feb										2-Feb	.		ENST00000394705	Transcript				integral to plasma membrane	G-protein coupled receptor activity	ENSG00000119737	g.chr2:54080319_54080320insTGCACTAAG	4526			MODERATE								--	--	1																																		ASB3_uc002rxi.3_Intron		1			p.524_525insHLV	NM_006794	NP_006785				GPR75_HUMAN	GPR75	HGNC	O95800	GPR75_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)				2	1845_1846	-			UPI0000050454	524_525			Cytoplasmic (Potential).		insertion	GPR75,inframe_insertion,p.Val524_Gln525insHisLeuVal,ENST00000394705,NM_006794.3;ASB3,intron_variant,,ENST00000406625,;GPR75-ASB3,intron_variant,,ENST00000352846,NM_001164165.1;MIR3682,upstream_gene_variant,,ENST00000581338,;ASB3,intron_variant,,ENST00000498475,;ASB3,intron_variant,,ENST00000459916,;	uc002rxo.3	c.1574_1575insCTTAGTGCA	1845-1846/2115	5	5			c.1574_1575insCTTAGTGCA						2	INS	c.(1573-1575)CAG>CACTTAGTGCAG	1	1			ovary(1)|skin(1)	2	Broad	G protein-coupled receptor 75			54080320		0.411	ENSG00000119737	6587	g.chr2:54080319_54080320insTGCACTAAG		integral to plasma membrane	G-protein coupled receptor activity																				0.12	1	0	0	1	1	0	0	0	0	--	--		0	TGCACTAAG			ASB3_uc002rxi.3_Intron	45	GBM-06-0195-TP	p.524_525insHLV	-	TGTCATATTCCTGCACTAAGTC	NM_006794	NP_006785	54080319	O95800	GPR75_HUMAN	0	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		2	1845_1846	-	TGCACTAAG	TGCACTAAG			In_Frame_Ins	524_525			Cytoplasmic (Potential).			
GPR75-ASB3	0	broad.mit.edu	GRCh37	2	53941692	53941692	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01	TCGA-12-0692-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263634.3:c.809C>T	p.Thr270Ile	p.T270I	ENST00000263634	NM_016115.4	270	aCt/aTt	0			1			A	T/I	uc002rxg.1	protein_coding		CCDS1846.1			809/1557									ovary(1)|kidney(1)	2	c.(808-810)ACT>ATT			Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50297,hmmpanther:PTHR24188,hmmpanther:PTHR24188:SF24,SMART_domains:SM00248,Superfamily_domains:SSF48403	ankyrin repeat and SOCS box-containing protein 3				ENSP00000263634		10-Jul									COSM3407911	10-Jul	.		ENST00000263634	Transcript			intracellular signal transduction			ENSG00000115239	g.chr2:53941692G>A	40043			MODERATE		2.375	medium	getma.org/?cm=msa&ty=f&p=ASB3_HUMAN&rb=243&re=442&var=T270I	getma.org/pdb.php?prot=ASB3_HUMAN&from=243&to=442&var=T270I	getma.org/?cm=var&var=hg19,2,53941692,G,A&fts=all	T270I	--	--	1																																		ASB3_uc002rxh.1_Missense_Mutation_p.T197I|ASB3_uc002rxi.3_Missense_Mutation_p.T308I|ASB3_uc010yoo.1_Missense_Mutation_p.T187I	1			probably_damaging(0.992)	p.T270I	NM_016115	NP_057199		deleterious(0)	1	ASB3_HUMAN	GPR75-ASB3	HGNC	Q9Y575	ASB3_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)				7	944	-			UPI00001260E7	270			ANK 8.		SNV	GPR75-ASB3,missense_variant,p.Thr263Ile,ENST00000406053,;GPR75-ASB3,missense_variant,p.Thr270Ile,ENST00000263634,NM_016115.4;GPR75-ASB3,missense_variant,p.Thr197Ile,ENST00000406687,NM_001201965.1;ASB3,missense_variant,p.Thr305Ile,ENST00000406625,;GPR75-ASB3,missense_variant,p.Thr308Ile,ENST00000352846,NM_001164165.1;GPR75-ASB3,missense_variant,p.Thr197Ile,ENST00000394717,NM_145863.2;GPR75-ASB3,non_coding_transcript_exon_variant,,ENST00000482829,;ASB3,non_coding_transcript_exon_variant,,ENST00000498475,;GPR75-ASB3,downstream_gene_variant,,ENST00000470916,;	uc002rxg.1	c.809C>T	944/2214	2	2			c.809C>T						2	SNP	c.(808-810)ACT>ATT	47	47			ovary(1)|kidney(1)	2	Broad	ankyrin repeat and SOCS box-containing protein 3			53941692		0.393	ENSG00000115239	1003	g.chr2:53941692G>A	intracellular signal transduction									-29.709381	KEEP	3	4	-1	110	72	3	4	-1	11.058069	110	72	0.034682	1	0	0	0	0	1	0	0	0	--	--		0	A			ASB3_uc002rxh.1_Missense_Mutation_p.T197I|ASB3_uc002rxi.3_Missense_Mutation_p.T308I|ASB3_uc010yoo.1_Missense_Mutation_p.T187I	122	GBM-12-0692-TP	p.T270I	G	GGCCCGGTTAGTAAGTGGTAT	NM_016115	NP_057199	53941692	Q9Y575	ASB3_HUMAN	0	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		7	944	-	A	A			Missense_Mutation	270			ANK 8.			
GPR78	0	broad.mit.edu	GRCh37	4	8582980	8582980	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-2623-01	TCGA-19-2623-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382487.4:c.271T>C	p.Ser91Pro	p.S91P	ENST00000382487	NM_080819.4	91	Tcc/Ccc	0			1			C	S/P	uc003glk.2	protein_coding	YES	CCDS3403.1			271/1092									central_nervous_system(4)|ovary(2)	6	c.(271-273)TCC>CCC			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24245,hmmpanther:PTHR24245:SF5,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	G protein-coupled receptor 78				ENSP00000371927		3-Jan									COSM3748280	3-Jan	.		ENST00000382487	Transcript			activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000155269	g.chr4:8582980T>C	4528			MODERATE		1.32	low	getma.org/?cm=msa&ty=f&p=GPR78_HUMAN&rb=22&re=294&var=S91P	getma.org/pdb.php?prot=GPR78_HUMAN&from=22&to=294&var=S91P	getma.org/?cm=var&var=hg19,4,8582980,T,C&fts=all	S91P	--	--	1																																		CPZ_uc003gll.2_RNA	1	1		probably_damaging(0.968)	p.S91P	NM_080819	NP_543009		tolerated(0.05)	1	GPR78_HUMAN	GPR78	HGNC	Q96P69	GPR78_HUMAN			D6RB95_HUMAN,B2R7M4_HUMAN		1	690	+			UPI0000037A5F	91			Helical; Name=3; (Potential).		SNV	GPR78,missense_variant,p.Ser91Pro,ENST00000382487,NM_080819.4;GPR78,intron_variant,,ENST00000509216,;GPR78,upstream_gene_variant,,ENST00000504255,;GPR78,downstream_gene_variant,,ENST00000503448,;GPR78,downstream_gene_variant,,ENST00000503981,;GPR78,missense_variant,p.Ser91Pro,ENST00000514302,;	uc003glk.2	c.271T>C	688/1694	4	4			c.271T>C						4	SNP	c.(271-273)TCC>CCC	46	46			central_nervous_system(4)|ovary(2)	6	Broad	G protein-coupled receptor 78			8582980		0.706	ENSG00000155269	6589	g.chr4:8582980T>C	activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity							3.637693	KEEP	2	0	-1	9	11	2	0	-1	6.327702	9	11	0.111111	1	0	0	0	0	1	0	0	0	--	--		0	C			CPZ_uc003gll.2_RNA	163	GBM-19-2623-TP	p.S91P	T	CTTCCTGGCGTCCAACGCGGC	NM_080819	NP_543009	8582980	Q96P69	GPR78_HUMAN	0			1	690	+	C	C			Missense_Mutation	91			Helical; Name=3; (Potential).			
GPR78	0	broad.mit.edu	GRCh37	4	8583361	8583361	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01	TCGA-32-1970-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382487.4:c.652G>A	p.Ala218Thr	p.A218T	ENST00000382487	NM_080819.4	218	Gcc/Acc	0			1			A	A/T	uc003glk.2	protein_coding	YES	CCDS3403.1			652/1092									central_nervous_system(4)|ovary(2)	6	c.(652-654)GCC>ACC			PROSITE_profiles:PS50262,hmmpanther:PTHR24245,hmmpanther:PTHR24245:SF5,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	G protein-coupled receptor 78				ENSP00000371927		3-Jan									COSM3409590	3-Jan	.		ENST00000382487	Transcript			activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000155269	g.chr4:8583361G>A	4528			MODERATE		-0.69	neutral	getma.org/?cm=msa&ty=f&p=GPR78_HUMAN&rb=22&re=294&var=A218T	getma.org/pdb.php?prot=GPR78_HUMAN&from=22&to=294&var=A218T	getma.org/?cm=var&var=hg19,4,8583361,G,A&fts=all	A218T	--	--	1																																		CPZ_uc003gll.2_RNA	1	1		benign(0.007)	p.A218T	NM_080819	NP_543009		tolerated(0.13)	1	GPR78_HUMAN	GPR78	HGNC	Q96P69	GPR78_HUMAN			D6RB95_HUMAN,B2R7M4_HUMAN		1	1071	+			UPI0000037A5F	218			Cytoplasmic (Potential).		SNV	GPR78,missense_variant,p.Ala218Thr,ENST00000382487,NM_080819.4;GPR78,intron_variant,,ENST00000509216,;GPR78,upstream_gene_variant,,ENST00000504255,;GPR78,downstream_gene_variant,,ENST00000503448,;GPR78,downstream_gene_variant,,ENST00000503981,;GPR78,missense_variant,p.Ala218Thr,ENST00000514302,;	uc003glk.2	c.652G>A	1069/1694	2	2			c.652G>A						4	SNP	c.(652-654)GCC>ACC	17	17			central_nervous_system(4)|ovary(2)	6	Broad	G protein-coupled receptor 78			8583361		0.687	ENSG00000155269	6589	g.chr4:8583361G>A	activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity							11.398565	KEEP	1	3	-1	2	2	1	3	-1	11.398565	2	2	0.5	1	0	0	0	0	1	0	0	0	--	--		0	A			CPZ_uc003gll.2_RNA	228	GBM-32-1970-TP	p.A218T	G	CGCGCTGCTCGCCGACCTGCA	NM_080819	NP_543009	8583361	Q96P69	GPR78_HUMAN	0			1	1071	+	A	A			Missense_Mutation	218			Cytoplasmic (Potential).			
GPR78	0	broad.mit.edu	GRCh37	4	8588808	8588808	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2632-01	TCGA-32-2632-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382487.4:c.810C>T	p.Thr270=	p.T270=	ENST00000382487	NM_080819.4	270	acC/acT	0			1			T	T	uc003glk.2	protein_coding	YES	CCDS3403.1			810/1092									central_nervous_system(4)|ovary(2)	6	c.(808-810)ACC>ACT			PROSITE_profiles:PS50262,hmmpanther:PTHR24245,hmmpanther:PTHR24245:SF5,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	G protein-coupled receptor 78				ENSP00000371927		3-Mar	4.12E-05		8.70E-05			3.11E-05		0.000123	rs760367219,COSM3409591	3-Mar	.		ENST00000382487	Transcript			activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000155269	g.chr4:8588808C>T	4528			LOW								--	--	1																																		CPZ_uc003gll.2_Intron	0,1	1			p.T270T	NM_080819	NP_543009			0,1	GPR78_HUMAN	GPR78	HGNC	Q96P69	GPR78_HUMAN			D6RB95_HUMAN,B2R7M4_HUMAN		3	1229	+			UPI0000037A5F	270			Extracellular (Potential).		SNV	GPR78,synonymous_variant,p.=,ENST00000382487,NM_080819.4;GPR78,non_coding_transcript_exon_variant,,ENST00000509216,;GPR78,non_coding_transcript_exon_variant,,ENST00000504255,;GPR78,intron_variant,,ENST00000514302,;	uc003glk.2	c.810C>T	1227/1694	2	2			c.810C>T						4	SNP	c.(808-810)ACC>ACT	48	48			central_nervous_system(4)|ovary(2)	6	Broad	G protein-coupled receptor 78			8588808		0.662	ENSG00000155269	6589	g.chr4:8588808C>T	activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity							-1.204645	KEEP	0	3	-1	17	25	0	3	-1	7.277013	17	25	0.068182	1	0	0	0	0	0	0	1	0	--	--		0	T			CPZ_uc003gll.2_Intron	240	GBM-32-2632-TP	p.T270T	C	CCTTCGTCACCGTGAACGCCC	NM_080819	NP_543009	8588808	Q96P69	GPR78_HUMAN	0			3	1229	+	T	T			Silent	270			Extracellular (Potential).			
GPR82	27197		GRCh37	X	41587247	41587247	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000302548.4:c.968T>G	p.Leu323Arg	p.L323R	ENST00000302548	NM_080817.4	323	cTc/cGc	0																																																																																																																																																																																																																																												
GPR83	0	broad.mit.edu	GRCh37	11	94113665	94113665	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5960-01	TCGA-19-5960-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000243673.2:c.922C>T	p.Leu308Phe	p.L308F	ENST00000243673	NM_016540.3	308	Ctc/Ttc	0			1			A	L/F	uc001pet.2	protein_coding	YES	CCDS8297.1			922/1272									central_nervous_system(2)|ovary(1)	3	c.(922-924)CTC>TTC			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF174,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	G protein-coupled receptor 83 precursor				ENSP00000243673		4-Apr									COSM3398217	4-Apr	.		ENST00000243673	Transcript				integral to membrane|plasma membrane	neuropeptide Y receptor activity	ENSG00000123901	g.chr11:94113665G>A	4523			MODERATE		1.44	low	getma.org/?cm=msa&ty=f&p=GPR83_HUMAN&rb=88&re=345&var=L308F	getma.org/pdb.php?prot=GPR83_HUMAN&from=88&to=345&var=L308F	getma.org/?cm=var&var=hg19,11,94113665,G,A&fts=all	L308F	--	--	1																																			1	1		probably_damaging(1)	p.L308F	NM_016540	NP_057624		deleterious(0)	1	GPR83_HUMAN	GPR83	HGNC	Q9NYM4	GPR83_HUMAN			Q9H011_HUMAN		4	1094	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	UPI000013CB3F	308			Helical; Name=6; (Potential).		SNV	GPR83,missense_variant,p.Leu308Phe,ENST00000243673,NM_016540.3;GPR83,missense_variant,p.Leu266Phe,ENST00000539203,;	uc001pet.2	c.922C>T	1094/4282	2	2			c.922C>T						11	SNP	c.(922-924)CTC>TTC	23	23			central_nervous_system(2)|ovary(1)	3	Broad	G protein-coupled receptor 83 precursor			94113665		0.532	ENSG00000123901	6592	g.chr11:94113665G>A		integral to membrane|plasma membrane	neuropeptide Y receptor activity							103.424023	KEEP	16	15	-1	2	3	16	15	-1	107.820433	2	3	0.875	1	0	0	0	0	1	0	0	0	--	--		0	A				178	GBM-19-5960-TP	p.L308F	G	TAGCAGTTGAGGGGGAACCAG	NM_016540	NP_057624	94113665	Q9NYM4	GPR83_HUMAN	0			4	1094	-	A	A		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	Missense_Mutation	308			Helical; Name=6; (Potential).			
GPR83	0	broad.mit.edu	GRCh37	11	94113625	94113625	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs145628763	byFrequency	TCGA-27-1831-01	TCGA-27-1831-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000243673.2:c.962G>A	p.Arg321His	p.R321H	ENST00000243673	NM_016540.3	321	cGc/cAc	0	A:0	T:0	1	T:0		T	R/H	uc001pet.2	protein_coding	YES	CCDS8297.1			962/1272									central_nervous_system(2)|ovary(1)	3	c.(961-963)CGC>CAC			PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF174,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	G protein-coupled receptor 83 precursor		T:0.001	A:0.0003	ENSP00000243673	T:0	4-Apr	4.94E-05	0.000288			0.000151			0.000121	rs145628763,COSM933476	4-Apr	.		ENST00000243673	Transcript		T:0.0004		integral to membrane|plasma membrane	neuropeptide Y receptor activity	ENSG00000123901	g.chr11:94113625C>T	4523			MODERATE		0.31	neutral	getma.org/?cm=msa&ty=f&p=GPR83_HUMAN&rb=88&re=345&var=R321H	getma.org/pdb.php?prot=GPR83_HUMAN&from=88&to=345&var=R321H	getma.org/?cm=var&var=hg19,11,94113625,C,T&fts=all	R321H	--	--	1																																			0,1	1		benign(0.001)	p.R321H	NM_016540	NP_057624	T:0.001	tolerated(0.67)	0,1	GPR83_HUMAN	GPR83	HGNC	Q9NYM4	GPR83_HUMAN			Q9H011_HUMAN		4	1134	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	UPI000013CB3F	321			Extracellular (Potential).		SNV	GPR83,missense_variant,p.Arg321His,ENST00000243673,NM_016540.3;GPR83,missense_variant,p.Arg279His,ENST00000539203,;	uc001pet.2	c.962G>A	1134/4282	2	2			c.962G>A						11	SNP	c.(961-963)CGC>CAC	35	35			central_nervous_system(2)|ovary(1)	3	Broad	G protein-coupled receptor 83 precursor			94113625		0.517	ENSG00000123901	6592	g.chr11:94113625C>T		integral to membrane|plasma membrane	neuropeptide Y receptor activity							216.276956	KEEP	36	45	-1	65	69	36	45	-1	219.315023	65	69	0.369458	1	0	0	0	0	1	0	0	0	--	--		0	T				190	GBM-27-1831-TP	p.R321H	C	ATTGTTGGTGCGGATGACCTT	NM_016540	NP_057624	94113625	Q9NYM4	GPR83_HUMAN	0			4	1134	-	T	T		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	Missense_Mutation	321			Extracellular (Potential).			
GPR85	54329	broad.mit.edu	GRCh37	7	112724285	112724288	+	frameshift_variant	Frame_Shift_Del	DEL	TGAG	TGAG	-			TCGA-06-0216-01	TCGA-06-0216-01	TGAG	TGAG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297146.3:c.489_492del	p.Phe165LeufsTer20	p.F165Lfs*20	ENST00000297146	NM_001146266.1	163	taCTCA/ta	0			1			-	YS/X	uc010ljv.2	protein_coding	YES	CCDS5758.1			489-492/1113									ovary(1)|central_nervous_system(1)	2	c.(487-492)TACTCAfs			PROSITE_profiles:PS50262,hmmpanther:PTHR19268,hmmpanther:PTHR19268:SF7,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	G protein-coupled receptor 85				ENSP00000297146		3-Mar										3-Mar	.		ENST00000297146	Transcript				integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000164604	g.chr7:112724285_112724288delTGAG	4536			HIGH								--	--	1																																		GPR85_uc003vgp.1_Frame_Shift_Del_p.Y163fs|GPR85_uc003vgq.2_Frame_Shift_Del_p.Y163fs|GPR85_uc010ljw.1_Frame_Shift_Del_p.Y163fs		1			p.Y163fs	NM_001146266	NP_001139738				GPR85_HUMAN	GPR85	HGNC	P60893	GPR85_HUMAN			C9JDK8_HUMAN,C9JBQ9_HUMAN,A4D0T8_HUMAN		2	1006_1009	-			UPI0000004048	163_164			Extracellular (Potential).		deletion	GPR85,frameshift_variant,p.Phe165LeufsTer20,ENST00000297146,NM_001146266.1;GPR85,frameshift_variant,p.Phe165LeufsTer20,ENST00000501255,NM_018970.6,NM_001146265.1;GPR85,frameshift_variant,p.Phe165LeufsTer20,ENST00000424100,NM_001146267.1;GPR85,frameshift_variant,p.Phe165LeufsTer20,ENST00000449591,;GPR85,downstream_gene_variant,,ENST00000438062,;GPR85,downstream_gene_variant,,ENST00000449735,;GPR85,downstream_gene_variant,,ENST00000487573,;GPR85,frameshift_variant,p.Phe165LeufsTer20,ENST00000610164,;	uc010ljv.2	c.489_492delCTCA	1093-1096/5079	5	5			c.489_492delCTCA						7	DEL	c.(487-492)TACTCAfs	35	35			ovary(1)|central_nervous_system(1)	2	Broad	G protein-coupled receptor 85			112724288		0.5	ENSG00000164604	6594	g.chr7:112724285_112724288delTGAG		integral to membrane|plasma membrane	G-protein coupled receptor activity																				0.27	1	1	0	1	0	0	0	0	0	--	--		0	-			GPR85_uc003vgp.1_Frame_Shift_Del_p.Y163fs|GPR85_uc003vgq.2_Frame_Shift_Del_p.Y163fs|GPR85_uc010ljw.1_Frame_Shift_Del_p.Y163fs	51	GBM-06-0216-TP	p.Y163fs	TGAG	CCCTAATGAATGAGTAAGTGCCCA	NM_001146266	NP_001139738	112724285	P60893	GPR85_HUMAN	0			2	1006_1009	-	-	-			Frame_Shift_Del	163_164			Extracellular (Potential).			
GPR85	54329	broad.mit.edu	GRCh37	7	112724771	112724771	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297146.3:c.6G>A	p.Ala2=	p.A2=	ENST00000297146	NM_001146266.1	2	gcG/gcA	0			1			T	A	uc010ljv.2	protein_coding	YES	CCDS5758.1			6/1113									ovary(1)|central_nervous_system(1)	2	c.(4-6)GCG>GCA			hmmpanther:PTHR19268,hmmpanther:PTHR19268:SF7	G protein-coupled receptor 85				ENSP00000297146		3-Mar	2.47E-05					3.17E-05		7.32E-05	rs767852001,COSM2151771	3-Mar	.		ENST00000297146	Transcript				integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000164604	g.chr7:112724771C>T	4536			LOW								--	--	1																																		GPR85_uc003vgp.1_Silent_p.A2A|GPR85_uc003vgq.2_Silent_p.A2A|GPR85_uc010ljw.1_Silent_p.A2A	0,1	1			p.A2A	NM_001146266	NP_001139738			0,1	GPR85_HUMAN	GPR85	HGNC	P60893	GPR85_HUMAN			C9JDK8_HUMAN,C9JBQ9_HUMAN,A4D0T8_HUMAN		2	523	-			UPI0000004048	2			Extracellular (Potential).		SNV	GPR85,synonymous_variant,p.=,ENST00000297146,NM_001146266.1;GPR85,synonymous_variant,p.=,ENST00000501255,NM_018970.6,NM_001146265.1;GPR85,synonymous_variant,p.=,ENST00000424100,NM_001146267.1;GPR85,synonymous_variant,p.=,ENST00000449591,;GPR85,synonymous_variant,p.=,ENST00000438062,;GPR85,synonymous_variant,p.=,ENST00000449735,;GPR85,downstream_gene_variant,,ENST00000487573,;GPR85,synonymous_variant,p.=,ENST00000610164,;	uc010ljv.2	c.6G>A	610/5079	2	2			c.6G>A						7	SNP	c.(4-6)GCG>GCA	35	35			ovary(1)|central_nervous_system(1)	2	Broad	G protein-coupled receptor 85			112724771		0.403	ENSG00000164604	6594	g.chr7:112724771C>T		integral to membrane|plasma membrane	G-protein coupled receptor activity							41.708663	KEEP	7	10	-1	23	16	7	10	-1	43.641074	23	16	0.294118	1	0	0	0	0	0	0	1	0	--	--		0	T			GPR85_uc003vgp.1_Silent_p.A2A|GPR85_uc003vgq.2_Silent_p.A2A|GPR85_uc010ljw.1_Silent_p.A2A	68	GBM-06-0747-TP	p.A2A	C	GGCTATAGTTCGCCATAGATG	NM_001146266	NP_001139738	112724771	P60893	GPR85_HUMAN	0			2	523	-	T	T			Silent	2			Extracellular (Potential).			
GPR85	0	broad.mit.edu	GRCh37	7	112724397	112724397	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01	TCGA-19-2631-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297146.3:c.380G>A	p.Arg127His	p.R127H	ENST00000297146	NM_001146266.1	127	cGc/cAc	0			1			T	R/H	uc010ljv.2	protein_coding	YES	CCDS5758.1			380/1113									ovary(1)|central_nervous_system(1)	2	c.(379-381)CGC>CAC			PROSITE_profiles:PS50262,hmmpanther:PTHR19268,hmmpanther:PTHR19268:SF7,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	G protein-coupled receptor 85				ENSP00000297146		3-Mar	8.24E-06					1.50E-05			rs748949997,COSM2156411	3-Mar	.		ENST00000297146	Transcript				integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000164604	g.chr7:112724397C>T	4536			MODERATE		1.965	medium	getma.org/?cm=msa&ty=f&p=GPR85_HUMAN&rb=37&re=338&var=R127H	getma.org/pdb.php?prot=GPR85_HUMAN&from=37&to=338&var=R127H	getma.org/?cm=var&var=hg19,7,112724397,C,T&fts=all	R127H	--	--	1																																		GPR85_uc003vgp.1_Missense_Mutation_p.R127H|GPR85_uc003vgq.2_Missense_Mutation_p.R127H|GPR85_uc010ljw.1_Missense_Mutation_p.R127H	0,1	1		probably_damaging(0.953)	p.R127H	NM_001146266	NP_001139738		deleterious(0)	0,1	GPR85_HUMAN	GPR85	HGNC	P60893	GPR85_HUMAN			C9JDK8_HUMAN,C9JBQ9_HUMAN,A4D0T8_HUMAN		2	897	-			UPI0000004048	127			Cytoplasmic (Potential).		SNV	GPR85,missense_variant,p.Arg127His,ENST00000297146,NM_001146266.1;GPR85,missense_variant,p.Arg127His,ENST00000501255,NM_018970.6,NM_001146265.1;GPR85,missense_variant,p.Arg127His,ENST00000424100,NM_001146267.1;GPR85,missense_variant,p.Arg127His,ENST00000449591,;GPR85,downstream_gene_variant,,ENST00000438062,;GPR85,downstream_gene_variant,,ENST00000449735,;GPR85,downstream_gene_variant,,ENST00000487573,;GPR85,missense_variant,p.Arg127His,ENST00000610164,;	uc010ljv.2	c.380G>A	984/5079	2	2			c.380G>A						7	SNP	c.(379-381)CGC>CAC	45	45			ovary(1)|central_nervous_system(1)	2	Broad	G protein-coupled receptor 85			112724397		0.493	ENSG00000164604	6594	g.chr7:112724397C>T		integral to membrane|plasma membrane	G-protein coupled receptor activity							104.390899	KEEP	17	29	-1	70	67	17	29	-1	113.190992	70	67	0.254658	1	0	0	0	0	1	0	0	0	--	--		0	T			GPR85_uc003vgp.1_Missense_Mutation_p.R127H|GPR85_uc003vgq.2_Missense_Mutation_p.R127H|GPR85_uc010ljw.1_Missense_Mutation_p.R127H	167	GBM-19-2631-TP	p.R127H	C	TGTATAGAAGCGGTGATGGGC	NM_001146266	NP_001139738	112724397	P60893	GPR85_HUMAN	0			2	897	-	T	T			Missense_Mutation	127			Cytoplasmic (Potential).			
GPR98	0	broad.mit.edu	GRCh37	5	89969926	89969926	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0169-01	TCGA-06-0169-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000405460.2:c.4985G>A	p.Arg1662His	p.R1662H	ENST00000405460	NM_032119.3	1662	cGt/cAt	0		A:0	1	A:0.0014		A	R/H	uc003kju.2	protein_coding	YES	CCDS47246.1			4985/18921									ovary(11)|central_nervous_system(3)|pancreas(2)	16	c.(4984-4986)CGT>CAT			Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,Superfamily_domains:SSF141072	G protein-coupled receptor 98 precursor		A:0		ENSP00000384582	A:0	23/90	4.97E-05		9.07E-05			7.74E-05			rs193222107,COSM198117	23/90	.		ENST00000405460	Transcript	1	A:0.0002	cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	ENSG00000164199	g.chr5:89969926G>A	17416			MODERATE		2.075	medium	getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=1561&re=1666&var=R1662H	NA	getma.org/?cm=var&var=hg19,5,89969926,G,A&fts=all	R1662H	--	--	1																																		GPR98_uc003kjt.2_Translation_Start_Site|GPR98_uc010jba.1_RNA	0,1	1		probably_damaging(0.991)	p.R1662H	NM_032119	NP_115495	A:0		0,1	GPR98_HUMAN	GPR98	HGNC	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)			23	5081	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	UPI00002127A7	1662			Calx-beta 11.|Extracellular (Potential).		SNV	GPR98,missense_variant,p.Arg1662His,ENST00000405460,NM_032119.3;GPR98,non_coding_transcript_exon_variant,,ENST00000450321,;	uc003kju.2	c.4985G>A	5081/19338	2	2			c.4985G>A						5	SNP	c.(4984-4986)CGT>CAT	17	17			ovary(11)|central_nervous_system(3)|pancreas(2)	16	Broad	G protein-coupled receptor 98 precursor			89969926		0.393	ENSG00000164199	6600	g.chr5:89969926G>A	cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity							48.631264	KEEP	13	8	-1	28	32	13	8	-1	52.315552	28	32	0.263889	1	0	0	0	0	1	0	0	0	--	--		0	A			GPR98_uc003kjt.2_Translation_Start_Site|GPR98_uc010jba.1_RNA	34	GBM-06-0169-TP	p.R1662H	G	GAGTATTTCCGTGTGACATTG	NM_032119	NP_115495	89969926	Q8WXG9	GPR98_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	23	5081	+	A	A		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	Missense_Mutation	1662			Calx-beta 11.|Extracellular (Potential).			
GPR98	0	broad.mit.edu	GRCh37	5	89981650	89981650	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0745-01	TCGA-06-0745-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000405460.2:c.6328A>G	p.Ile2110Val	p.I2110V	ENST00000405460	NM_032119.3	2110	Atc/Gtc	0			1			G	I/V	uc003kju.2	protein_coding	YES	CCDS47246.1			6328/18921									ovary(11)|central_nervous_system(3)|pancreas(2)	16	c.(6328-6330)ATC>GTC			Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,SMART_domains:SM00237,Superfamily_domains:SSF141072	G protein-coupled receptor 98 precursor				ENSP00000384582		29/90									COSM2151716	29/90	.		ENST00000405460	Transcript	1		cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	ENSG00000164199	g.chr5:89981650A>G	17416			MODERATE		2.135	medium	getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=2106&re=2206&var=I2110V	NA	getma.org/?cm=var&var=hg19,5,89981650,A,G&fts=all	I2110V	--	--	1																																		GPR98_uc003kjt.2_5'UTR	1	1		possibly_damaging(0.768)	p.I2110V	NM_032119	NP_115495			1	GPR98_HUMAN	GPR98	HGNC	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)			29	6424	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	UPI00002127A7	2110			Extracellular (Potential).		SNV	GPR98,missense_variant,p.Ile2110Val,ENST00000405460,NM_032119.3;	uc003kju.2	c.6328A>G	6424/19338	3	3			c.6328A>G						5	SNP	c.(6328-6330)ATC>GTC	64	64			ovary(11)|central_nervous_system(3)|pancreas(2)	16	Broad	G protein-coupled receptor 98 precursor			89981650		0.413	ENSG00000164199	6600	g.chr5:89981650A>G	cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity							99.393873	KEEP	23	11	-1	22	21	23	11	-1	99.78664	22	21	0.41791	1	0	0	0	0	1	0	0	0	--	--		0	G			GPR98_uc003kjt.2_5'UTR	67	GBM-06-0745-TP	p.I2110V	A	GCAACTAATTATCATTGCCAA	NM_032119	NP_115495	89981650	Q8WXG9	GPR98_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	29	6424	+	G	G		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	Missense_Mutation	2110			Extracellular (Potential).			
GPR98	0	broad.mit.edu	GRCh37	5	89989726	89989726	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2559-01	TCGA-06-2559-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000405460.2:c.7153C>T	p.Leu2385=	p.L2385=	ENST00000405460	NM_032119.3	2385	Ctg/Ttg	0			1			T	L	uc003kju.2	protein_coding	YES	CCDS47246.1			7153/18921									ovary(11)|central_nervous_system(3)|pancreas(2)	16	c.(7153-7155)CTG>TTG			hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,Superfamily_domains:SSF141072	G protein-coupled receptor 98 precursor				ENSP00000384582		33/90									COSM3410468	33/90	.		ENST00000405460	Transcript	1		cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	ENSG00000164199	g.chr5:89989726C>T	17416			LOW								--	--	1																																		GPR98_uc003kjt.2_Silent_p.L91L|GPR98_uc003kjv.2_5'UTR	1	1			p.L2385L	NM_032119	NP_115495			1	GPR98_HUMAN	GPR98	HGNC	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)			33	7249	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	UPI00002127A7	2385			Extracellular (Potential).		SNV	GPR98,synonymous_variant,p.=,ENST00000405460,NM_032119.3;GPR98,upstream_gene_variant,,ENST00000509621,;	uc003kju.2	c.7153C>T	7249/19338	2	2			c.7153C>T						5	SNP	c.(7153-7155)CTG>TTG	32	32			ovary(11)|central_nervous_system(3)|pancreas(2)	16	Broad	G protein-coupled receptor 98 precursor			89989726		0.428	ENSG00000164199	6600	g.chr5:89989726C>T	cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity							41.142884	KEEP	10	6	-1	10	10	10	6	-1	41.206508	10	10	0.451613	1	0	0	0	0	0	0	1	0	--	--		0	T			GPR98_uc003kjt.2_Silent_p.L91L|GPR98_uc003kjv.2_5'UTR	83	GBM-06-2559-TP	p.L2385L	C	CTTTGGTCGGCTGTTGTTGTT	NM_032119	NP_115495	89989726	Q8WXG9	GPR98_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	33	7249	+	T	T		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	Silent	2385			Extracellular (Potential).			
GPR98	0	broad.mit.edu	GRCh37	5	89986845	89986845	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01	TCGA-06-5415-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000405460.2:c.6938C>T	p.Pro2313Leu	p.P2313L	ENST00000405460	NM_032119.3	2313	cCg/cTg	0			1			T	P/L	uc003kju.2	protein_coding	YES	CCDS47246.1			6938/18921									ovary(11)|central_nervous_system(3)|pancreas(2)	16	c.(6937-6939)CCG>CTG			hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,SMART_domains:SM00237,Superfamily_domains:SSF141072	G protein-coupled receptor 98 precursor				ENSP00000384582		31/90	4.96E-05		8.67E-05			7.49E-05			rs199571511,COSM1208765	31/90	.		ENST00000405460	Transcript	1		cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	ENSG00000164199	g.chr5:89986845C>T	17416			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=2283&re=2323&var=P2313L	NA	getma.org/?cm=var&var=hg19,5,89986845,C,T&fts=all	P2313L	--	--	1																																		GPR98_uc003kjt.2_Intron|GPR98_uc003kjv.2_5'Flank	0,1	1		probably_damaging(0.913)	p.P2313L	NM_032119	NP_115495			0,1	GPR98_HUMAN	GPR98	HGNC	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)			31	7034	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	UPI00002127A7	2313			Calx-beta 16.|Extracellular (Potential).		SNV	GPR98,missense_variant,p.Pro2313Leu,ENST00000405460,NM_032119.3;GPR98,upstream_gene_variant,,ENST00000509621,;	uc003kju.2	c.6938C>T	7034/19338	1	1			c.6938C>T						5	SNP	c.(6937-6939)CCG>CTG	4	4			ovary(11)|central_nervous_system(3)|pancreas(2)	16	Broad	G protein-coupled receptor 98 precursor			89986845		0.468	ENSG00000164199	6600	g.chr5:89986845C>T	cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity							135.575053	KEEP	33	28	-1	49	48	33	28	-1	136.873979	49	48	0.385965	1	0	0	0	0	1	0	0	0	--	--		0	T			GPR98_uc003kjt.2_Intron|GPR98_uc003kjv.2_5'Flank	98	GBM-06-5415-TP	p.P2313L	C	GACGACGTTCCGGAGATTGAA	NM_032119	NP_115495	89986845	Q8WXG9	GPR98_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	31	7034	+	T	T		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	Missense_Mutation	2313			Calx-beta 16.|Extracellular (Potential).			
GPR98	0	broad.mit.edu	GRCh37	5	90136528	90136528	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0616-01	TCGA-12-0616-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000405460.2:c.16745C>T	p.Thr5582Met	p.T5582M	ENST00000405460	NM_032119.3	5582	aCg/aTg	0			1			T	T/M	uc003kju.2	protein_coding	YES	CCDS47246.1			16745/18921						uncertain_significance			ovary(11)|central_nervous_system(3)|pancreas(2)	16	c.(16744-16746)ACG>ATG			hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,Superfamily_domains:SSF141072	G protein-coupled receptor 98 precursor				ENSP00000384582		78/90	3.31E-05			0.000232	0.000151			6.06E-05	rs771468922,COSM2153575	78/90	.		ENST00000405460	Transcript	1		cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	ENSG00000164199	g.chr5:90136528C>T	17416			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=5534&re=5733&var=T5582M	NA	getma.org/?cm=var&var=hg19,5,90136528,C,T&fts=all	T5582M	--	--	1																																		GPR98_uc003kjt.2_Missense_Mutation_p.T3288M|GPR98_uc003kjw.2_Missense_Mutation_p.T1243M	1,1	1		probably_damaging(0.93)	p.T5582M	NM_032119	NP_115495			0,1	GPR98_HUMAN	GPR98	HGNC	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)			78	16841	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	UPI00002127A7	5582			Extracellular (Potential).		SNV	GPR98,missense_variant,p.Thr5582Met,ENST00000405460,NM_032119.3;GPR98,missense_variant,p.Thr1243Met,ENST00000425867,;	uc003kju.2	c.16745C>T	16841/19338	2	2			c.16745C>T						5	SNP	c.(16744-16746)ACG>ATG	41	41			ovary(11)|central_nervous_system(3)|pancreas(2)	16	Broad	G protein-coupled receptor 98 precursor			90136528		0.423	ENSG00000164199	6600	g.chr5:90136528C>T	cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity							293.480302	KEEP	66	63	-1	137	143	66	63	-1	305.33046	137	143	0.303207	1	0	0	0	0	1	0	0	0	--	--		0	T			GPR98_uc003kjt.2_Missense_Mutation_p.T3288M|GPR98_uc003kjw.2_Missense_Mutation_p.T1243M	118	GBM-12-0616-TP	p.T5582M	C	GTCATCCTAACGCCAGAGACA	NM_032119	NP_115495	90136528	Q8WXG9	GPR98_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	78	16841	+	T	T		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	Missense_Mutation	5582			Extracellular (Potential).			
GPR98	0	broad.mit.edu	GRCh37	5	89943466	89943466	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-12-3652-01	TCGA-12-3652-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000405460.2:c.3174A>G	p.Gly1058=	p.G1058=	ENST00000405460	NM_032119.3	1058	ggA/ggG	0			1			G	G	uc003kju.2	protein_coding	YES	CCDS47246.1			3174/18921									ovary(11)|central_nervous_system(3)|pancreas(2)	16	c.(3172-3174)GGA>GGG			Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,SMART_domains:SM00237,Superfamily_domains:SSF141072	G protein-coupled receptor 98 precursor				ENSP00000384582		17/90									COSM3410463	17/90	.		ENST00000405460	Transcript	1		cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	ENSG00000164199	g.chr5:89943466A>G	17416			LOW								--	--	1																																		GPR98_uc003kjt.2_5'UTR	1	1			p.G1058G	NM_032119	NP_115495			1	GPR98_HUMAN	GPR98	HGNC	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)			17	3270	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	UPI00002127A7	1058			Calx-beta 8.|Extracellular (Potential).		SNV	GPR98,synonymous_variant,p.=,ENST00000405460,NM_032119.3;GPR98,synonymous_variant,p.=,ENST00000504142,;GPR98,downstream_gene_variant,,ENST00000512205,;	uc003kju.2	c.3174A>G	3270/19338	3	3			c.3174A>G						5	SNP	c.(3172-3174)GGA>GGG	57	57			ovary(11)|central_nervous_system(3)|pancreas(2)	16	Broad	G protein-coupled receptor 98 precursor			89943466		0.413	ENSG00000164199	6600	g.chr5:89943466A>G	cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity							226.8316	KEEP	32	39	-1	55	55	32	39	-1	228.805389	55	55	0.384615	1	0	0	0	0	0	0	1	0	--	--		0	G			GPR98_uc003kjt.2_5'UTR	127	GBM-12-3652-TP	p.G1058G	A	TTGAAAAAGGAGAAACGCTCA	NM_032119	NP_115495	89943466	Q8WXG9	GPR98_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	17	3270	+	G	G		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	Silent	1058			Calx-beta 8.|Extracellular (Potential).			
GPR98	0	broad.mit.edu	GRCh37	5	89954051	89954051	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-0817-01	TCGA-14-0817-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000405460.2:c.4708A>G	p.Asn1570Asp	p.N1570D	ENST00000405460	NM_032119.3	1570	Aat/Gat	0		G:0.0008	1	G:0		G	N/D	uc003kju.2	protein_coding	YES	CCDS47246.1			4708/18921									ovary(11)|central_nervous_system(3)|pancreas(2)	16	c.(4708-4710)AAT>GAT			Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,Superfamily_domains:SSF141072	G protein-coupled receptor 98 precursor		G:0		ENSP00000384582	G:0	21/90	1.67E-05	0.000208							rs537211169,COSM2154803	21/90	.		ENST00000405460	Transcript	1	G:0.0002	cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	ENSG00000164199	g.chr5:89954051A>G	17416			MODERATE		1.025	low	getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=1561&re=1666&var=N1570D	NA	getma.org/?cm=var&var=hg19,5,89954051,A,G&fts=all	N1570D	--	--	1																																		GPR98_uc003kjt.2_5'UTR	0,1	1		probably_damaging(0.973)	p.N1570D	NM_032119	NP_115495	G:0		0,1	GPR98_HUMAN	GPR98	HGNC	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)			21	4804	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	UPI00002127A7	1570			Extracellular (Potential).		SNV	GPR98,missense_variant,p.Asn1570Asp,ENST00000405460,NM_032119.3;GPR98,downstream_gene_variant,,ENST00000504142,;	uc003kju.2	c.4708A>G	4804/19338	3	3			c.4708A>G						5	SNP	c.(4708-4710)AAT>GAT	16	16			ovary(11)|central_nervous_system(3)|pancreas(2)	16	Broad	G protein-coupled receptor 98 precursor			89954051		0.343	ENSG00000164199	6600	g.chr5:89954051A>G	cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity							71.566958	KEEP	20	18	-1	37	48	20	18	-1	74.8738	37	48	0.289157	1	0	0	0	0	1	0	0	0	--	--		0	G			GPR98_uc003kjt.2_5'UTR	139	GBM-14-0817-TP	p.N1570D	A	AAAAAGTGACAATGCAAATGG	NM_032119	NP_115495	89954051	Q8WXG9	GPR98_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	21	4804	+	G	G		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	Missense_Mutation	1570			Extracellular (Potential).			
GPR98	0	broad.mit.edu	GRCh37	5	90055389	90055389	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-14-1829-01	TCGA-14-1829-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000405460.2:c.12104G>T	p.Gly4035Val	p.G4035V	ENST00000405460	NM_032119.3	4035	gGa/gTa	0			1			T	G/V	uc003kju.2	protein_coding	YES	CCDS47246.1			12104/18921									ovary(11)|central_nervous_system(3)|pancreas(2)	16	c.(12103-12105)GGA>GTA			Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,SMART_domains:SM00237,Superfamily_domains:SSF141072	G protein-coupled receptor 98 precursor				ENSP00000384582		58/90									COSM3410473	58/90	.		ENST00000405460	Transcript	1		cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	ENSG00000164199	g.chr5:90055389G>T	17416			MODERATE		2.155	medium	getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=4020&re=4123&var=G4035V	getma.org/pdb.php?prot=GPR98_HUMAN&from=4020&to=4123&var=G4035V	getma.org/?cm=var&var=hg19,5,90055389,G,T&fts=all	G4035V	--	--	1																																		GPR98_uc003kjt.2_Missense_Mutation_p.G1741V|GPR98_uc003kjv.2_Missense_Mutation_p.G1635V	1	1		probably_damaging(0.999)	p.G4035V	NM_032119	NP_115495			1	GPR98_HUMAN	GPR98	HGNC	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)			58	12200	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	UPI00002127A7	4035			Extracellular (Potential).		SNV	GPR98,missense_variant,p.Gly4035Val,ENST00000405460,NM_032119.3;GPR98,missense_variant,p.Gly1601Val,ENST00000509621,;	uc003kju.2	c.12104G>T	12200/19338	1	1			c.12104G>T						5	SNP	c.(12103-12105)GGA>GTA	1	1			ovary(11)|central_nervous_system(3)|pancreas(2)	16	Broad	G protein-coupled receptor 98 precursor			90055389		0.368	ENSG00000164199	6600	g.chr5:90055389G>T	cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity							48.561425	KEEP	8	10	0.444444444	16	14	8	10	0.444444444	49.249856	16	14	0.369565	1	0	0	0	0	1	0	0	0	--	--		0	T			GPR98_uc003kjt.2_Missense_Mutation_p.G1741V|GPR98_uc003kjv.2_Missense_Mutation_p.G1635V	149	GBM-14-1829-TP	p.G4035V	G	GGAGTATTTGGATTTGAAGAA	NM_032119	NP_115495	90055389	Q8WXG9	GPR98_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	58	12200	+	T	T		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	Missense_Mutation	4035			Extracellular (Potential).			
GPR98	0	broad.mit.edu	GRCh37	5	89990447	89990447	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01	TCGA-32-1970-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000405460.2:c.7874G>A	p.Arg2625His	p.R2625H	ENST00000405460	NM_032119.3	2625	cGt/cAt	0	A:0.0005	A:0	1	A:0		A	R/H	uc003kju.2	protein_coding	YES	CCDS47246.1			7874/18921						likely_benign			ovary(11)|central_nervous_system(3)|pancreas(2)	16	c.(7873-7875)CGT>CAT			Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,SMART_domains:SM00237,Superfamily_domains:SSF141072	G protein-coupled receptor 98 precursor		A:0	A:0.0031	ENSP00000384582	A:0.002	33/90	0.00231	0.000408	0.000784	0.00128	0.000151	0.00319	0.00337	0.00254	rs201214794,COSM3410469	33/90	common_variant		ENST00000405460	Transcript	1	A:0.0006	cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	ENSG00000164199	g.chr5:89990447G>A	17416			MODERATE		1.09	low	getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=2595&re=2676&var=R2625H	getma.org/pdb.php?prot=GPR98_HUMAN&from=2595&to=2676&var=R2625H	getma.org/?cm=var&var=hg19,5,89990447,G,A&fts=all	R2625H	--	--	1																																		GPR98_uc003kjt.2_Missense_Mutation_p.R331H|GPR98_uc003kjv.2_Missense_Mutation_p.R225H	1,1	1		benign(0.018)	p.R2625H	NM_032119	NP_115495	A:0.001		0,1	GPR98_HUMAN	GPR98	HGNC	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)			33	7970	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	UPI00002127A7	2625			Extracellular (Potential).		SNV	GPR98,missense_variant,p.Arg2625His,ENST00000405460,NM_032119.3;GPR98,missense_variant,p.Arg191His,ENST00000509621,;	uc003kju.2	c.7874G>A	7970/19338	1	1			c.7874G>A						5	SNP	c.(7873-7875)CGT>CAT	51	51			ovary(11)|central_nervous_system(3)|pancreas(2)	16	Broad	G protein-coupled receptor 98 precursor			89990447		0.473	ENSG00000164199	6600	g.chr5:89990447G>A	cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity							5.461841	KEEP	5	11	-1	80	87	5	11	-1	34.390444	80	87	0.092486	1	0	0	0	0	1	0	0	0	--	--		0	A			GPR98_uc003kjt.2_Missense_Mutation_p.R331H|GPR98_uc003kjv.2_Missense_Mutation_p.R225H	228	GBM-32-1970-TP	p.R2625H	G	GTCGAATGGCGTGTTGTTGGT	NM_032119	NP_115495	89990447	Q8WXG9	GPR98_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	33	7970	+	A	A		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	Missense_Mutation	2625			Extracellular (Potential).			
GPR98	0	broad.mit.edu	GRCh37	5	90021005	90021005	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-4210-01	TCGA-32-4210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000405460.2:c.10009C>A	p.Leu3337Ile	p.L3337I	ENST00000405460	NM_032119.3	3337	Ctt/Att	0			1			A	L/I	uc003kju.2	protein_coding	YES	CCDS47246.1			10009/18921									ovary(11)|central_nervous_system(3)|pancreas(2)	16	c.(10009-10011)CTT>ATT			PROSITE_profiles:PS50912,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20	G protein-coupled receptor 98 precursor				ENSP00000384582		47/90									COSM3410471	47/90	.		ENST00000405460	Transcript	1		cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	ENSG00000164199	g.chr5:90021005C>A	17416			MODERATE		0.205	neutral	getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=3249&re=3393&var=L3337I	NA	getma.org/?cm=var&var=hg19,5,90021005,C,A&fts=all	L3337I	--	--	1																																		GPR98_uc003kjt.2_Missense_Mutation_p.L1043I|GPR98_uc003kjv.2_Missense_Mutation_p.L937I	1	1		benign(0)	p.L3337I	NM_032119	NP_115495			1	GPR98_HUMAN	GPR98	HGNC	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)			47	10105	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	UPI00002127A7	3337			Extracellular (Potential).|EAR 2.		SNV	GPR98,missense_variant,p.Leu3337Ile,ENST00000405460,NM_032119.3;GPR98,missense_variant,p.Leu903Ile,ENST00000509621,;	uc003kju.2	c.10009C>A	10105/19338	2	2			c.10009C>A						5	SNP	c.(10009-10011)CTT>ATT	29	29			ovary(11)|central_nervous_system(3)|pancreas(2)	16	Broad	G protein-coupled receptor 98 precursor			90021005		0.264	ENSG00000164199	6600	g.chr5:90021005C>A	cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity							4.2054	KEEP	2	1	0.333333333	11	11	2	1	0.333333333	7.748735	11	11	0.12	1	0	0	0	0	1	0	0	0	--	--		0	A			GPR98_uc003kjt.2_Missense_Mutation_p.L1043I|GPR98_uc003kjv.2_Missense_Mutation_p.L937I	245	GBM-32-4210-TP	p.L3337I	C	AAAGCCTTCTCTTAACAGTGT	NM_032119	NP_115495	90021005	Q8WXG9	GPR98_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	47	10105	+	A	A		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	Missense_Mutation	3337			Extracellular (Potential).|EAR 2.			
GPR98	0	broad.mit.edu	GRCh37	5	89985863	89985863	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-41-2573-01	TCGA-41-2573-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000405460.2:c.6676G>C	p.Glu2226Gln	p.E2226Q	ENST00000405460	NM_032119.3	2226	Gag/Cag	0			1			C	E/Q	uc003kju.2	protein_coding	YES	CCDS47246.1			6676/18921									ovary(11)|central_nervous_system(3)|pancreas(2)	16	c.(6676-6678)GAG>CAG			hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,SMART_domains:SM00237,Superfamily_domains:SSF141072	G protein-coupled receptor 98 precursor				ENSP00000384582		30/90									COSM3410466	30/90	.		ENST00000405460	Transcript	1		cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	ENSG00000164199	g.chr5:89985863G>C	17416			MODERATE		1.52	low	getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=2207&re=2406&var=E2226Q	NA	getma.org/?cm=var&var=hg19,5,89985863,G,C&fts=all	E2226Q	--	--	1																																		GPR98_uc003kjt.2_5'UTR	1	1		possibly_damaging(0.727)	p.E2226Q	NM_032119	NP_115495			1	GPR98_HUMAN	GPR98	HGNC	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)			30	6772	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	UPI00002127A7	2226			Extracellular (Potential).		SNV	GPR98,missense_variant,p.Glu2226Gln,ENST00000405460,NM_032119.3;GPR98,upstream_gene_variant,,ENST00000509621,;	uc003kju.2	c.6676G>C	6772/19338	3	3			c.6676G>C						5	SNP	c.(6676-6678)GAG>CAG	12	12			ovary(11)|central_nervous_system(3)|pancreas(2)	16	Broad	G protein-coupled receptor 98 precursor			89985863		0.378	ENSG00000164199	6600	g.chr5:89985863G>C	cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity							5.541149	KEEP	2	0	-1	7	4	2	0	-1	7.030459	7	4	0.153846	1	0	0	0	0	1	0	0	0	--	--		0	C			GPR98_uc003kjt.2_5'UTR	252	GBM-41-2573-TP	p.E2226Q	G	CATTATTATTGAGGCCTCTGA	NM_032119	NP_115495	89985863	Q8WXG9	GPR98_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	30	6772	+	C	C		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	Missense_Mutation	2226			Extracellular (Potential).			
GPR98			GRCh37	5	90046453	90046453	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000405460.2:c.11060G>A	p.Arg3687His	p.R3687H	ENST00000405460	NM_032119.3	3687	cGt/cAt	0																																																																																																																																																																																																																																												
GPR98			GRCh37	5	90144497	90144497	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000405460.2:c.17063G>A	p.Arg5688Gln	p.R5688Q	ENST00000405460	NM_032119.3	5688	cGa/cAa	0																																																																																																																																																																																																																																												
GPR98			GRCh37	5	90159635	90159635	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000405460.2:c.17817A>T	p.Lys5939Asn	p.K5939N	ENST00000405460	NM_032119.3	5939	aaA/aaT	0																																																																																																																																																																																																																																												
GPR98			GRCh37	5	89992775	89992775	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000405460.2:c.7967T>C	p.Ile2656Thr	p.I2656T	ENST00000405460	NM_032119.3	2656	aTt/aCt	0																																																																																																																																																																																																																																												
GPR98			GRCh37	5	89953946	89953946	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000405460.2:c.4603G>A	p.Glu1535Lys	p.E1535K	ENST00000405460	NM_032119.3	1535	Gag/Aag	0																																																																																																																																																																																																																																												
GPR98			GRCh37	5	89986756	89986756	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000405460.2:c.6849C>T	p.Gly2283=	p.G2283=	ENST00000405460	NM_032119.3	2283	ggC/ggT	0																																																																																																																																																																																																																																												
GPRASP2	114928	broad.mit.edu	GRCh37	X	101972203	101972203	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0168-01	TCGA-06-0168-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000543253.1:c.2406T>C	p.Asp802=	p.D802=	ENST00000543253	NM_001184874.2	802	gaT/gaC	0			1			C	D	uc004ejk.2	protein_coding		CCDS14501.1			2406/2517									ovary(1)	1	c.(2404-2406)GAT>GAC			hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF10,Pfam_domain:PF04826,Superfamily_domains:SSF48371	G protein-coupled receptor associated sorting				ENSP00000339057		4-Apr									COSM2150213	4-Apr	.		ENST00000332262	Transcript				cytoplasm	protein binding	ENSG00000158301	g.chrX:101972203T>C	25169			LOW								--	--	1																																		GPRASP2_uc004ejl.2_Silent_p.D802D|GPRASP2_uc004ejm.2_Silent_p.D802D|GPRASP2_uc011mrp.1_Silent_p.D141D	1				p.D802D	NM_138437	NP_612446			1	GASP2_HUMAN	GPRASP2	HGNC	Q96D09	GASP2_HUMAN					4	3740	+			UPI000006F01A	802					SNV	GPRASP2,synonymous_variant,p.=,ENST00000543253,NM_001184874.2,NM_001184876.2,NM_001004051.3;GPRASP2,synonymous_variant,p.=,ENST00000535209,;GPRASP2,synonymous_variant,p.=,ENST00000332262,NM_138437.5,NM_001184875.2;BHLHB9,upstream_gene_variant,,ENST00000457056,NM_001142527.1,NM_001142526.1,NM_001142525.1,NM_001142528.1,NM_001142524.1;BHLHB9,upstream_gene_variant,,ENST00000361229,NM_030639.2;RP4-769N13.6,downstream_gene_variant,,ENST00000486740,;GPRASP2,downstream_gene_variant,,ENST00000486814,;GPRASP2,downstream_gene_variant,,ENST00000483720,;RP4-769N13.6,downstream_gene_variant,,ENST00000602366,;RP4-769N13.6,downstream_gene_variant,,ENST00000602463,;BHLHB9,upstream_gene_variant,,ENST00000483294,;BHLHB9,upstream_gene_variant,,ENST00000486988,;	uc004ejk.2	c.2406T>C	3262/3720	3	3			c.2406T>C						23	SNP	c.(2404-2406)GAT>GAC	53	53			ovary(1)	1	Broad	G protein-coupled receptor associated sorting			101972203		0.333	ENSG00000158301	6602	g.chrX:101972203T>C		cytoplasm	protein binding							438.578651	KEEP	76	55	-1	66	64	76	55	-1	438.602386	66	64	0.510917	1	0	0	0	0	0	0	1	0	--	--		0	C			GPRASP2_uc004ejl.2_Silent_p.D802D|GPRASP2_uc004ejm.2_Silent_p.D802D|GPRASP2_uc011mrp.1_Silent_p.D141D	33	GBM-06-0168-TP	p.D802D	T	TTGATGATGATTTCAGTCTTG	NM_138437	NP_612446	101972203	Q96D09	GASP2_HUMAN	0			4	3740	+	C	C			Silent	802						
GPRASP2	114928	broad.mit.edu	GRCh37	X	101971308	101971308	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0750-01	TCGA-06-0750-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000543253.1:c.1511A>G	p.His504Arg	p.H504R	ENST00000543253	NM_001184874.2	504	cAt/cGt	0			1			G	H/R	uc004ejk.2	protein_coding		CCDS14501.1			1511/2517									ovary(1)	1	c.(1510-1512)CAT>CGT			hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF10	G protein-coupled receptor associated sorting				ENSP00000339057		4-Apr									COSM3748176	4-Apr	.		ENST00000332262	Transcript				cytoplasm	protein binding	ENSG00000158301	g.chrX:101971308A>G	25169			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=GASP2_HUMAN&rb=360&re=559&var=H504R	NA	getma.org/?cm=var&var=hg19,X,101971308,A,G&fts=all	H504R	--	--	1																																		GPRASP2_uc004ejl.2_Missense_Mutation_p.H504R|GPRASP2_uc004ejm.2_Missense_Mutation_p.H504R|GPRASP2_uc011mrp.1_5'Flank	1			benign(0.002)	p.H504R	NM_138437	NP_612446		tolerated(0.22)	1	GASP2_HUMAN	GPRASP2	HGNC	Q96D09	GASP2_HUMAN					4	2845	+			UPI000006F01A	504					SNV	GPRASP2,missense_variant,p.His504Arg,ENST00000543253,NM_001184874.2,NM_001184876.2,NM_001004051.3;GPRASP2,missense_variant,p.His504Arg,ENST00000535209,;GPRASP2,missense_variant,p.His504Arg,ENST00000332262,NM_138437.5,NM_001184875.2;BHLHB9,upstream_gene_variant,,ENST00000457056,NM_001142527.1,NM_001142526.1,NM_001142525.1,NM_001142528.1,NM_001142524.1;BHLHB9,upstream_gene_variant,,ENST00000361229,NM_030639.2;RP4-769N13.6,downstream_gene_variant,,ENST00000486740,;GPRASP2,downstream_gene_variant,,ENST00000486814,;GPRASP2,downstream_gene_variant,,ENST00000483720,;RP4-769N13.6,downstream_gene_variant,,ENST00000602366,;RP4-769N13.6,downstream_gene_variant,,ENST00000602463,;BHLHB9,upstream_gene_variant,,ENST00000483294,;BHLHB9,upstream_gene_variant,,ENST00000486988,;	uc004ejk.2	c.1511A>G	2367/3720	3	3			c.1511A>G						23	SNP	c.(1510-1512)CAT>CGT	58	58			ovary(1)	1	Broad	G protein-coupled receptor associated sorting			101971308		0.512	ENSG00000158301	6602	g.chrX:101971308A>G		cytoplasm	protein binding							-20.479596	KEEP	3	3	-1	88	42	3	3	-1	6.864878	88	42	0.034483	1	0	0	0	0	1	0	0	0	--	--		0	G			GPRASP2_uc004ejl.2_Missense_Mutation_p.H504R|GPRASP2_uc004ejm.2_Missense_Mutation_p.H504R|GPRASP2_uc011mrp.1_5'Flank	70	GBM-06-0750-TP	p.H504R	A	GGTCTTTTTCATGGGGTTGGC	NM_138437	NP_612446	101971308	Q96D09	GASP2_HUMAN	0			4	2845	+	G	G			Missense_Mutation	504						
GPRASP2	0	broad.mit.edu	GRCh37	X	101972268	101972268	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01	TCGA-32-2491-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332262.5:c.2471C>G	p.Ala824Gly	p.A824G	ENST00000332262	NM_138437.5	824	gCc/gGc	0			1			G	A/G	uc004ejk.2	protein_coding		CCDS14501.1			2471/2517									ovary(1)	1	c.(2470-2472)GCC>GGC			hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF10,Pfam_domain:PF04826,Superfamily_domains:SSF48371	G protein-coupled receptor associated sorting				ENSP00000339057		4-Apr									COSM3405785	4-Apr	.		ENST00000332262	Transcript				cytoplasm	protein binding	ENSG00000158301	g.chrX:101972268C>G	25169			MODERATE		-1.04	neutral	getma.org/?cm=msa&ty=f&p=GASP2_HUMAN&rb=584&re=838&var=A824G	NA	getma.org/?cm=var&var=hg19,X,101972268,C,G&fts=all	A824G	--	--	1																																		GPRASP2_uc004ejl.2_Missense_Mutation_p.A824G|GPRASP2_uc004ejm.2_Missense_Mutation_p.A824G|GPRASP2_uc011mrp.1_Missense_Mutation_p.A163G	1			benign(0)	p.A824G	NM_138437	NP_612446		tolerated(0.61)	1	GASP2_HUMAN	GPRASP2	HGNC	Q96D09	GASP2_HUMAN					4	3805	+			UPI000006F01A	824					SNV	GPRASP2,missense_variant,p.Ala824Gly,ENST00000543253,NM_001184874.2,NM_001184876.2,NM_001004051.3;GPRASP2,missense_variant,p.Ala824Gly,ENST00000535209,;GPRASP2,missense_variant,p.Ala824Gly,ENST00000332262,NM_138437.5,NM_001184875.2;BHLHB9,upstream_gene_variant,,ENST00000457056,NM_001142527.1,NM_001142526.1,NM_001142525.1,NM_001142528.1,NM_001142524.1;BHLHB9,upstream_gene_variant,,ENST00000361229,NM_030639.2;RP4-769N13.6,downstream_gene_variant,,ENST00000486740,;GPRASP2,downstream_gene_variant,,ENST00000486814,;GPRASP2,downstream_gene_variant,,ENST00000483720,;RP4-769N13.6,downstream_gene_variant,,ENST00000602366,;RP4-769N13.6,downstream_gene_variant,,ENST00000602463,;BHLHB9,upstream_gene_variant,,ENST00000483294,;BHLHB9,upstream_gene_variant,,ENST00000486988,;	uc004ejk.2	c.2471C>G	3327/3720	3	3			c.2471C>G						23	SNP	c.(2470-2472)GCC>GGC	13	13			ovary(1)	1	Broad	G protein-coupled receptor associated sorting			101972268		0.403	ENSG00000158301	6602	g.chrX:101972268C>G		cytoplasm	protein binding							-16.941472	KEEP	3	2	-1	68	68	3	2	-1	12.418784	68	68	0.039062	1	0	0	0	0	1	0	0	0	--	--		0	G			GPRASP2_uc004ejl.2_Missense_Mutation_p.A824G|GPRASP2_uc004ejm.2_Missense_Mutation_p.A824G|GPRASP2_uc011mrp.1_Missense_Mutation_p.A163G	235	GBM-32-2491-TP	p.A824G	C	CAACTACAAGCCCAAATAGAC	NM_138437	NP_612446	101972268	Q96D09	GASP2_HUMAN	0			4	3805	+	G	G			Missense_Mutation	824						
GPRASP2	114928		GRCh37	X	101970131	101970131	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000543253.1:c.334A>G	p.Thr112Ala	p.T112A	ENST00000543253	NM_001184874.2	112	Act/Gct	0																																																																																																																																																																																																																																												
GPRC5A	0	broad.mit.edu	GRCh37	12	13061399	13061399	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-0688-01	TCGA-12-0688-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000014914.5:c.216C>T	p.Leu72=	p.L72=	ENST00000014914	NM_003979.3	72	ctC/ctT	0			1			T	L	uc001rba.2	protein_coding	YES	CCDS8657.1			216/1074										0	c.(214-216)CTC>CTT			Pfam_domain:PF00003,hmmpanther:PTHR14511,hmmpanther:PTHR14511:SF8,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	G protein-coupled receptor, family C, group 5,	Tretinoin(DB00755)			ENSP00000014914		4-Feb									COSM2153904	4-Feb	.		ENST00000014914	Transcript				cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity	ENSG00000013588	g.chr12:13061399C>T	9836			LOW								--	--	1																																		GPRC5A_uc001raz.2_Silent_p.L72L	1	1			p.L72L	NM_003979	NP_003970			1	RAI3_HUMAN	GPRC5A	HGNC	Q8NFJ5	RAI3_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0708)	F5GWG3_HUMAN		2	866	+		Prostate(47;0.141)	UPI00000373F7	72			Helical; Name=2; (Potential).		SNV	GPRC5A,synonymous_variant,p.=,ENST00000014914,NM_003979.3;GPRC5A,synonymous_variant,p.=,ENST00000534831,;GPRC5A,upstream_gene_variant,,ENST00000540125,;GPRC5A,intron_variant,,ENST00000542056,;GPRC5A,non_coding_transcript_exon_variant,,ENST00000537783,;	uc001rba.2	c.216C>T	1106/7362	2	2			c.216C>T						12	SNP	c.(214-216)CTC>CTT	29	29				0	Broad	G protein-coupled receptor, family C, group 5,		Tretinoin(DB00755)	13061399		0.557	ENSG00000013588	6603	g.chr12:13061399C>T		cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity							360.472355	KEEP	77	54	-1	102	87	77	54	-1	362.614601	102	87	0.409396	1	0	0	0	0	0	0	1	0	--	--		0	T			GPRC5A_uc001raz.2_Silent_p.L72L	121	GBM-12-0688-TP	p.L72L	C	TTCTCTTCCTCCTGGGTGTGT	NM_003979	NP_003970	13061399	Q8NFJ5	RAI3_HUMAN	0		BRCA - Breast invasive adenocarcinoma(232;0.0708)	2	866	+	T	T		Prostate(47;0.141)	Silent	72			Helical; Name=2; (Potential).			
GPRC6A	0	broad.mit.edu	GRCh37	6	117128089	117128089	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01	TCGA-14-0789-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310357.3:c.779G>A	p.Arg260Gln	p.R260Q	ENST00000310357	NM_148963.2	260	cGg/cAg	0	T:0.0002		1			T	R/Q	uc003pxj.1	protein_coding	YES	CCDS5112.1			779/2781									ovary(4)|skin(2)	6	c.(778-780)CGG>CAG			Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF5,Superfamily_domains:SSF53822	G protein-coupled receptor, family C, group 6,			T:0	ENSP00000309493		6-Mar	3.29E-05	9.68E-05	8.76E-05			1.50E-05		6.06E-05	rs368860950,COSM3410547	6-Mar	.		ENST00000310357	Transcript			response to amino acid stimulus		G-protein coupled receptor activity	ENSG00000173612	g.chr6:117128089C>T	18510			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=GPC6A_HUMAN&rb=73&re=482&var=R260Q	getma.org/pdb.php?prot=GPC6A_HUMAN&from=73&to=482&var=R260Q	getma.org/?cm=var&var=hg19,6,117128089,C,T&fts=all	R260Q	--	--	1																																		GPRC6A_uc003pxk.1_Missense_Mutation_p.R260Q|GPRC6A_uc003pxl.1_Missense_Mutation_p.R260Q	0,1	1		benign(0.001)	p.R260Q	NM_148963	NP_683766		tolerated(1)	0,1	GPC6A_HUMAN	GPRC6A	HGNC	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)			3	801	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	UPI000013EFF9	260			Extracellular (Potential).		SNV	GPRC6A,missense_variant,p.Arg260Gln,ENST00000310357,NM_148963.2;GPRC6A,missense_variant,p.Arg260Gln,ENST00000368549,NM_001286355.1;GPRC6A,missense_variant,p.Arg260Gln,ENST00000530250,NM_001286354.1;	uc003pxj.1	c.779G>A	801/2860	1	1			c.779G>A						6	SNP	c.(778-780)CGG>CAG	9	9			ovary(4)|skin(2)	6	Broad	G protein-coupled receptor, family C, group 6,			117128089		0.363	ENSG00000173612	6607	g.chr6:117128089C>T	response to amino acid stimulus		G-protein coupled receptor activity							94.693196	KEEP	23	17	-1	70	61	23	17	-1	105.466406	70	61	0.229814	1	0	0	0	0	1	0	0	0	--	--		0	T			GPRC6A_uc003pxk.1_Missense_Mutation_p.R260Q|GPRC6A_uc003pxl.1_Missense_Mutation_p.R260Q	136	GBM-14-0789-TP	p.R260Q	C	CTTCAGTGTCCGATTGATTCT	NM_148963	NP_683766	117128089	Q5T6X5	GPC6A_HUMAN	0		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	3	801	-	T	T		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	Missense_Mutation	260			Extracellular (Potential).			
GPRC6A	0	broad.mit.edu	GRCh37	6	117150029	117150031	+	inframe_deletion	In_Frame_Del	DEL	ACA	ACA	-			TCGA-32-1982-01	TCGA-32-1982-01	ACA	ACA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310357.3:c.146_148delTGT	p.Leu49del	p.L49del	ENST00000310357	NM_148963.2	49	tTGTcc/tcc	0			1			-	LS/S	uc003pxj.1	protein_coding	YES	CCDS5112.1			146-148/2781									ovary(4)|skin(2)	6	c.(145-150)TTGTCC>TCC			Gene3D:3.40.50.2300,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF5,Superfamily_domains:SSF53822	G protein-coupled receptor, family C, group 6,				ENSP00000309493		6-Jan										6-Jan	.		ENST00000310357	Transcript			response to amino acid stimulus		G-protein coupled receptor activity	ENSG00000173612	g.chr6:117150029_117150031delACA	18510			MODERATE								--	--	1																																		GPRC6A_uc003pxk.1_In_Frame_Del_p.L49del|GPRC6A_uc003pxl.1_In_Frame_Del_p.L49del		1			p.L49del	NM_148963	NP_683766				GPC6A_HUMAN	GPRC6A	HGNC	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)			1	168_170	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	UPI000013EFF9	49			Extracellular (Potential).		deletion	GPRC6A,inframe_deletion,p.Leu49del,ENST00000310357,NM_148963.2;GPRC6A,inframe_deletion,p.Leu49del,ENST00000368549,NM_001286355.1;GPRC6A,inframe_deletion,p.Leu49del,ENST00000530250,NM_001286354.1;	uc003pxj.1	c.146_148delTGT	168-170/2860	5	5			c.146_148delTGT						6	DEL	c.(145-150)TTGTCC>TCC	18	18			ovary(4)|skin(2)	6	Broad	G protein-coupled receptor, family C, group 6,			117150031		0.443	ENSG00000173612	6607	g.chr6:117150029_117150031delACA	response to amino acid stimulus		G-protein coupled receptor activity																				0.26	1	1	0	1	0	0	0	0	0	--	--		0	-			GPRC6A_uc003pxk.1_In_Frame_Del_p.L49del|GPRC6A_uc003pxl.1_In_Frame_Del_p.L49del	232	GBM-32-1982-TP	p.L49del	ACA	TCTTCTGAGGACAACATTTTTTC	NM_148963	NP_683766	117150029	Q5T6X5	GPC6A_HUMAN	0		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	1	168_170	-	-	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	In_Frame_Del	49			Extracellular (Potential).			
GPRC6A	222545		GRCh37	6	117113591	117113591	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000310357.3:c.2495C>A	p.Pro832His	p.P832H	ENST00000310357	NM_148963.2	832	cCc/cAc	0																																																																																																																																																																																																																																												
GPRIN2	0	broad.mit.edu	GRCh37	10	47000008	47000008	+	synonymous_variant	Silent	SNP	G	G	A	rs111800394		TCGA-19-1390-01	TCGA-19-1390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374314.4:c.1128G>A	p.Pro376=	p.P376=	ENST00000374314		376	ccG/ccA	0		A:0	1	A:0		A	P	uc001jec.2	protein_coding	YES	CCDS31192.1			1128/1377										0	c.(1126-1128)CCG>CCA			Pfam_domain:PF15235,hmmpanther:PTHR15718	G protein-regulated inducer of neurite outgrowth		A:0		ENSP00000363433	A:0.001	1-Jan	0.000115	0.000192	0.000691			3.00E-05		0.000121	rs111800394,COSM3397139	1-Jan	common_variant		ENST00000374314	Transcript		A:0.0002				ENSG00000204175	g.chr10:47000008G>A	23730			LOW								--	--	1																																		GPRIN2_uc010qfq.1_Silent_p.P139P	0,1	1			p.P376P	NM_014696	NP_055511	A:0		0,1	GRIN2_HUMAN	GPRIN2	HGNC	O60269	GRIN2_HUMAN					3	1263	+			UPI000013ECB4	376					SNV	GPRIN2,synonymous_variant,p.=,ENST00000374314,;GPRIN2,synonymous_variant,p.=,ENST00000374317,NM_014696.3;	uc001jec.2	c.1128G>A	2083/7718	2	2			c.1128G>A						10	SNP	c.(1126-1128)CCG>CCA	30	30				0	Broad	G protein-regulated inducer of neurite outgrowth			47000008		0.657	ENSG00000204175	6609	g.chr10:47000008G>A										54.355891	KEEP	21	14	-1	78	80	21	14	-1	69.862898	78	80	0.174194	1	0	0	0	0	0	0	1	0	--	--		0	A			GPRIN2_uc010qfq.1_Silent_p.P139P	159	GBM-19-1390-TP	p.P376P	G	AGGAGGTGCCGTCCCCTGTGC	NM_014696	NP_055511	47000008	O60269	GRIN2_HUMAN	0			3	1263	+	A	A			Silent	376						
GPRIN2	0	broad.mit.edu	GRCh37	10	46999948	46999948	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-4213-01	TCGA-32-4213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374314.4:c.1068G>A	p.Ala356=	p.A356=	ENST00000374314		356	gcG/gcA	0			1			A	A	uc001jec.2	protein_coding	YES	CCDS31192.1			1068/1377										0	c.(1066-1068)GCG>GCA			Pfam_domain:PF15235,hmmpanther:PTHR15718	G protein-regulated inducer of neurite outgrowth				ENSP00000363433		1-Jan	0.000107					0.00015		0.000182	rs782016007,COSM3397138	1-Jan	.		ENST00000374314	Transcript						ENSG00000204175	g.chr10:46999948G>A	23730			LOW								--	--	1																																		GPRIN2_uc010qfq.1_Silent_p.A119A	0,1	1			p.A356A	NM_014696	NP_055511			0,1	GRIN2_HUMAN	GPRIN2	HGNC	O60269	GRIN2_HUMAN					3	1203	+			UPI000013ECB4	356					SNV	GPRIN2,synonymous_variant,p.=,ENST00000374314,;GPRIN2,synonymous_variant,p.=,ENST00000374317,NM_014696.3;	uc001jec.2	c.1068G>A	2023/7718	2	2			c.1068G>A						10	SNP	c.(1066-1068)GCG>GCA	34	34				0	Broad	G protein-regulated inducer of neurite outgrowth			46999948		0.677	ENSG00000204175	6609	g.chr10:46999948G>A										41.037428	KEEP	9	13	-1	59	46	9	13	-1	50.653267	59	46	0.188679	1	0	0	0	0	0	0	1	0	--	--		0	A			GPRIN2_uc010qfq.1_Silent_p.A119A	247	GBM-32-4213-TP	p.A356A	G	CCCTGGAAGCGCCTGCAGCCC	NM_014696	NP_055511	46999948	O60269	GRIN2_HUMAN	0			3	1203	+	A	A			Silent	356						
GPRIN2	9721		GRCh37	10	46999114	46999114	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000374314.4:c.234T>G	p.Ser78=	p.S78=	ENST00000374314		78	tcT/tcG	0																																																																																																																																																																																																																																												
GPRIN3	285513	broad.mit.edu	GRCh37	4	90170302	90170302	+	synonymous_variant	Silent	SNP	C	C	T	rs145721148	byFrequency	TCGA-06-5410-01	TCGA-06-5410-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000609438.1:c.960G>A	p.Ala320=	p.A320=	ENST00000609438	NM_198281.2	320	gcG/gcA	0	T:0.0036	T:0.0015	1	T:0.0014		T	A	uc003hsm.1	protein_coding		CCDS34030.1			960/2331									ovary(3)	3	c.(958-960)GCG>GCA			hmmpanther:PTHR15718,hmmpanther:PTHR15718:SF2,Low_complexity_(Seg):seg	G protein-regulated inducer of neurite outgrowth		T:0	T:0	ENSP00000328672	T:0	1-Jan	0.000362	0.00232	0.000346			0.00015		0.000363	rs145721148,COSM3409615	1-Jan	common_variant		ENST00000333209	Transcript		T:0.0006				ENSG00000185477	g.chr4:90170302C>T	27733			LOW								--	--	1																																			0,1				p.A320A	NM_198281	NP_938022	T:0		0,1	GRIN3_HUMAN	GPRIN3	HGNC	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)			2	1479	-		Hepatocellular(203;0.114)	UPI00001C1E20	320					SNV	GPRIN3,synonymous_variant,p.=,ENST00000609438,NM_198281.2;GPRIN3,synonymous_variant,p.=,ENST00000333209,;	uc003hsm.1	c.960G>A	2044/6260	1	1			c.960G>A						4	SNP	c.(958-960)GCG>GCA	16	16			ovary(3)	3	Broad	G protein-regulated inducer of neurite outgrowth			90170302		0.537	ENSG00000185477	6610	g.chr4:90170302C>T										-19.271804	KEEP	3	4	-1	57	87	3	4	-1	12.955891	57	87	0.041958	1	0	0	0	0	0	0	1	0	--	--		0	T				93	GBM-06-5410-TP	p.A320A	C	CCTGCACCTCCGCATCTTGCC	NM_198281	NP_938022	90170302	Q6ZVF9	GRIN3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	1479	-	T	T		Hepatocellular(203;0.114)	Silent	320						
GPSM1	26086		GRCh37	9	139250804	139250804	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000440944.1:c.1623G>A	p.Ser541=	p.S541=	ENST00000440944	NM_001145638.2	541	tcG/tcA	0																																																																																																																																																																																																																																												
GPX1	0	broad.mit.edu	GRCh37	3	49395545	49395545	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-41-2572-01	TCGA-41-2572-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000419783.1:c.167A>C	p.Tyr56Ser	p.Y56S	ENST00000419783	NM_000581.2	56	tAc/tCc	0			1			G	Y/S	uc011bcl.1	protein_coding	YES	CCDS43091.1			167/612									large_intestine(1)	1	c.(166-168)TAC>TCC			Gene3D:3.40.30.10,Pfam_domain:PF00255,PIRSF_domain:PIRSF000303,PROSITE_profiles:PS51355,hmmpanther:PTHR11592,hmmpanther:PTHR11592:SF24,Superfamily_domains:SSF52833	glutathione peroxidase 1 isoform 1	Glutathione(DB00143)			ENSP00000407375		2-Jan									COSM3408740	2-Jan	.		ENST00000419783	Transcript			anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding	ENSG00000233276	g.chr3:49395545T>G	4553			MODERATE		3.965	high	getma.org/?cm=msa&ty=f&p=GPX1_HUMAN&rb=16&re=130&var=Y56S	getma.org/pdb.php?prot=GPX1_HUMAN&from=16&to=130&var=Y56S	getma.org/?cm=var&var=hg19,3,49395545,T,G&fts=all	Y56S	--	--	1																																		GPX1_uc011bcm.1_Missense_Mutation_p.Y56S	1	1		benign(0.232)	p.Y56S	NM_000581	NP_000572		tolerated(0.06)	1	GPX1_HUMAN	GPX1	HGNC	P07203	GPX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Q7L4Q3_HUMAN		2	247	-			UPI00001B07C3	56					SNV	GPX1,missense_variant,p.Tyr56Ser,ENST00000419783,NM_000581.2;GPX1,missense_variant,p.Tyr56Ser,ENST00000419349,NM_201397.1;RHOA,downstream_gene_variant,,ENST00000418115,NM_001664.2;RHOA,downstream_gene_variant,,ENST00000422781,;RHOA,downstream_gene_variant,,ENST00000454011,;RHOA,downstream_gene_variant,,ENST00000445425,;GPX1,non_coding_transcript_exon_variant,,ENST00000496791,;	uc011bcl.1	c.167A>C	489/1146	3	3			c.167A>C						3	SNP	c.(166-168)TAC>TCC	6	6			large_intestine(1)	1	Broad	glutathione peroxidase 1 isoform 1		Glutathione(DB00143)	49395545		0.657	ENSG00000233276	6618	g.chr3:49395545T>G	anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding							21.815338	KEEP	4	3	-1	14	11	4	3	-1	23.403324	14	11	0.25	1	0	0	0	0	1	0	0	0	--	--		0	G			GPX1_uc011bcm.1_Missense_Mutation_p.Y56S	251	GBM-41-2572-TP	p.Y56S	T	CATCTGGGTGTAGTCCCGGAC	NM_000581	NP_000572	49395545	P07203	GPX1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	247	-	G	G			Missense_Mutation	56						
GPX4	0	broad.mit.edu	GRCh37	19	1105195	1105195	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01	TCGA-19-4068-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354171.8:c.95G>A	p.Arg32Gln	p.R32Q	ENST00000354171	NM_001039847.1	32	cGg/cAg	0	A:0		1			A	R/Q	uc010xgg.1	protein_coding	YES	CCDS42457.1			95/594										0	c.(94-96)CGG>CAG			PIRSF_domain:PIRSF000303,PROSITE_profiles:PS51355,hmmpanther:PTHR11592	glutathione peroxidase 4 isoform A precursor	Glutathione(DB00143)		A:0.0001	ENSP00000346103		7-Feb	1.66E-05					3.13E-05			rs369712159,COSM2156483	7-Feb	.		ENST00000354171	Transcript	1		multicellular organismal development|phospholipid metabolic process		glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity	ENSG00000167468	g.chr19:1105195G>A	4556			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=GPX4_HUMAN&rb=1&re=40&var=R32Q	NA	getma.org/?cm=var&var=hg19,19,1105195,G,A&fts=all	R32Q	--	--	1																																		GPX4_uc010xgh.1_Missense_Mutation_p.R32Q|GPX4_uc010xgi.1_Missense_Mutation_p.R69Q	0,1	1		benign(0.008)	p.R32Q	NM_002085	NP_002076		tolerated(0.64)	0,1	GPX4_HUMAN	GPX4	HGNC	P36969	GPX4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Q6PJX4_HUMAN		2	202	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	UPI00001AAC3F	32					SNV	GPX4,missense_variant,p.Arg32Gln,ENST00000354171,NM_001039847.1,NM_002085.3;GPX4,missense_variant,p.Arg32Gln,ENST00000589115,;GPX4,missense_variant,p.Arg23Gln,ENST00000588919,;GPX4,missense_variant,p.Arg69Gln,ENST00000585362,;GPX4,missense_variant,p.Arg24Gln,ENST00000593032,;GPX4,5_prime_UTR_variant,,ENST00000587648,;SBNO2,downstream_gene_variant,,ENST00000361757,NM_014963.2;SBNO2,downstream_gene_variant,,ENST00000587024,;SBNO2,downstream_gene_variant,,ENST00000438103,NM_001100122.1;GPX4,non_coding_transcript_exon_variant,,ENST00000592940,;SBNO2,downstream_gene_variant,,ENST00000587673,;GPX4,upstream_gene_variant,,ENST00000585480,;SBNO2,downstream_gene_variant,,ENST00000586109,;GPX4,upstream_gene_variant,,ENST00000587932,;	uc010xgg.1	c.95G>A	202/908	2	2			c.95G>A						19	SNP	c.(94-96)CGG>CAG	27	27				0	Broad	glutathione peroxidase 4 isoform A precursor		Glutathione(DB00143)	1105195		0.672	ENSG00000167468	6621	g.chr19:1105195G>A	multicellular organismal development|phospholipid metabolic process		glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity							71.48893	KEEP	18	9	-1	16	24	18	9	-1	71.865376	16	24	0.413793	1	0	0	0	0	1	0	0	0	--	--		0	A			GPX4_uc010xgh.1_Missense_Mutation_p.R32Q|GPX4_uc010xgi.1_Missense_Mutation_p.R69Q	168	GBM-19-4068-TP	p.R32Q	G	TGCGCGTCCCGGGACGACTGG	NM_002085	NP_002076	1105195	P36969	GPX4_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	202	+	A	A		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	Missense_Mutation	32						
GPX5	2880	broad.mit.edu	GRCh37	6	28497370	28497370	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs145161873	byFrequency	TCGA-06-0171-01	TCGA-06-0171-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000412168.2:c.230C>T	p.Ala77Val	p.A77V	ENST00000412168	NM_001509.2	77	gCg/gTg	0	T:0	T:0	1	T:0		T	A/V	uc003nll.2	protein_coding	YES	CCDS4652.1			230/666									skin(1)	1	c.(229-231)GCG>GTG			PROSITE_profiles:PS51355,hmmpanther:PTHR11592,hmmpanther:PTHR11592:SF9,Pfam_domain:PF00255,Gene3D:3.40.30.10,PIRSF_domain:PIRSF000303,Superfamily_domains:SSF52833	glutathione peroxidase 5 isoform 1 precursor	Glutathione(DB00143)	T:0	T:0.0021	ENSP00000392398	T:0.001	5-Feb	0.00279		0.00148	0.000347		0.00248	0.00665	0.00895	rs145161873,COSM2150303	5-Feb	common_variant		ENST00000412168	Transcript		T:0.0016	lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity	ENSG00000224586	g.chr6:28497370C>T	4557			MODERATE		0.515	neutral	getma.org/?cm=msa&ty=f&p=GPX5_HUMAN&rb=40&re=153&var=A77V	getma.org/pdb.php?prot=GPX5_HUMAN&from=40&to=153&var=A77V	getma.org/?cm=var&var=hg19,6,28497370,C,T&fts=all	A77V	--	--	1																																		GPX5_uc003nlm.2_Missense_Mutation_p.A77V|GPX5_uc003nln.2_RNA	0,1	1		benign(0.007)	p.A77V	NM_001509	NP_001500	T:0.0072	tolerated(0.73)	0,1	GPX5_HUMAN	GPX5	HGNC	O75715	GPX5_HUMAN					2	232	+			UPI0000031FD7	77					SNV	GPX5,missense_variant,p.Ala77Val,ENST00000412168,NM_001509.2;GPX5,missense_variant,p.Ala77Val,ENST00000469384,NM_003996.3;GPX5,non_coding_transcript_exon_variant,,ENST00000442674,;GPX5,non_coding_transcript_exon_variant,,ENST00000483784,;GPX6,upstream_gene_variant,,ENST00000483058,;	uc003nll.2	c.230C>T	319/1540	1	1			c.230C>T						6	SNP	c.(229-231)GCG>GTG	1	1			skin(1)	1	Broad	glutathione peroxidase 5 isoform 1 precursor		Glutathione(DB00143)	28497370		0.378	ENSG00000224586	6622	g.chr6:28497370C>T	lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity							103.196738	KEEP	25	21	-1	49	62	25	21	-1	108.676042	49	62	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	T			GPX5_uc003nlm.2_Missense_Mutation_p.A77V|GPX5_uc003nln.2_RNA	35	GBM-06-0171-TP	p.A77V	C	GGTCTGACAGCGCAATATCCT	NM_001509	NP_001500	28497370	O75715	GPX5_HUMAN	0			2	232	+	T	T			Missense_Mutation	77						
GPX5	0	broad.mit.edu	GRCh37	6	28497327	28497327	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-1747-01	TCGA-28-1747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000412168.2:c.187C>T	p.His63Tyr	p.H63Y	ENST00000412168	NM_001509.2	63	Cac/Tac	0			1			T	H/Y	uc003nll.2	protein_coding	YES	CCDS4652.1			187/666									skin(1)	1	c.(187-189)CAC>TAC			PROSITE_profiles:PS51355,hmmpanther:PTHR11592,hmmpanther:PTHR11592:SF9,PROSITE_patterns:PS00460,Pfam_domain:PF00255,Gene3D:3.40.30.10,PIRSF_domain:PIRSF000303,Superfamily_domains:SSF52833,Prints_domain:PR01011	glutathione peroxidase 5 isoform 1 precursor	Glutathione(DB00143)			ENSP00000392398		5-Feb									COSM3410873	5-Feb	.		ENST00000412168	Transcript			lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity	ENSG00000224586	g.chr6:28497327C>T	4557			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=GPX5_HUMAN&rb=40&re=153&var=H63Y	getma.org/pdb.php?prot=GPX5_HUMAN&from=40&to=153&var=H63Y	getma.org/?cm=var&var=hg19,6,28497327,C,T&fts=all	H63Y	--	--	1																																		GPX5_uc003nlm.2_Missense_Mutation_p.H63Y|GPX5_uc003nln.2_RNA	1	1		benign(0.017)	p.H63Y	NM_001509	NP_001500		tolerated(1)	1	GPX5_HUMAN	GPX5	HGNC	O75715	GPX5_HUMAN					2	189	+			UPI0000031FD7	63					SNV	GPX5,missense_variant,p.His63Tyr,ENST00000412168,NM_001509.2;GPX5,missense_variant,p.His63Tyr,ENST00000469384,NM_003996.3;GPX5,non_coding_transcript_exon_variant,,ENST00000442674,;GPX5,non_coding_transcript_exon_variant,,ENST00000483784,;GPX6,upstream_gene_variant,,ENST00000483058,;	uc003nll.2	c.187C>T	276/1540	2	2			c.187C>T						6	SNP	c.(187-189)CAC>TAC	21	21			skin(1)	1	Broad	glutathione peroxidase 5 isoform 1 precursor		Glutathione(DB00143)	28497327		0.443	ENSG00000224586	6622	g.chr6:28497327C>T	lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity							202.619932	KEEP	41	38	-1	63	57	41	38	-1	204.341294	63	57	0.396739	1	0	0	0	0	1	0	0	0	--	--		0	T			GPX5_uc003nlm.2_Missense_Mutation_p.H63Y|GPX5_uc003nln.2_RNA	206	GBM-28-1747-TP	p.H63Y	C	TGTGGGCAAGCACATCCTCTT	NM_001509	NP_001500	28497327	O75715	GPX5_HUMAN	0			2	189	+	T	T			Missense_Mutation	63						
GRAMD1A	0	broad.mit.edu	GRCh37	19	35500871	35500871	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-1747-01	TCGA-28-1747-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317991.5:c.320T>C	p.Ile107Thr	p.I107T	ENST00000317991	NM_020895.3	107	aTt/aCt	0			1			C	I/T	uc010xse.1	protein_coding	YES	CCDS42546.1			320/2175										0	c.(319-321)ATT>ACT			hmmpanther:PTHR23319:SF8,hmmpanther:PTHR23319,Pfam_domain:PF02893,SMART_domains:SM00568	GRAM domain containing 1A isoform 1				ENSP00000441032		20-Apr									COSM3404107	20-Apr	.		ENST00000317991	Transcript				integral to membrane		ENSG00000089351	g.chr19:35500871T>C	29305			MODERATE		3.355	medium	getma.org/?cm=msa&ty=f&p=GRM1A_HUMAN&rb=91&re=158&var=I107T	NA	getma.org/?cm=var&var=hg19,19,35500871,T,C&fts=all	I107T	--	--	1																																		GRAMD1A_uc002nxi.1_Missense_Mutation_p.I194T|GRAMD1A_uc002nxk.2_Missense_Mutation_p.I100T|GRAMD1A_uc002nxl.2_5'UTR|GRAMD1A_uc010xsf.1_Missense_Mutation_p.I112T	1	1		possibly_damaging(0.874)	p.I107T	NM_020895	NP_065946		deleterious(0.01)	1	GRM1A_HUMAN	GRAMD1A	HGNC	Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)				4	457	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		UPI00000377B4	107			GRAM.		SNV	GRAMD1A,missense_variant,p.Ile194Thr,ENST00000599564,;GRAMD1A,missense_variant,p.Ile107Thr,ENST00000317991,NM_020895.3;GRAMD1A,missense_variant,p.Ile100Thr,ENST00000411896,NM_001136199.1;GRAMD1A,missense_variant,p.Ile107Thr,ENST00000424536,;GRAMD1A,5_prime_UTR_variant,,ENST00000504615,;CTD-2527I21.14,downstream_gene_variant,,ENST00000605640,;GRAMD1A,non_coding_transcript_exon_variant,,ENST00000598073,;GRAMD1A,non_coding_transcript_exon_variant,,ENST00000594597,;GRAMD1A,downstream_gene_variant,,ENST00000603669,;GRAMD1A,missense_variant,p.Ile107Thr,ENST00000600231,;GRAMD1A,non_coding_transcript_exon_variant,,ENST00000599476,;GRAMD1A,upstream_gene_variant,,ENST00000595596,;GRAMD1A,upstream_gene_variant,,ENST00000598362,;GRAMD1A,upstream_gene_variant,,ENST00000598580,;	uc010xse.1	c.320T>C	512/2695	3	3			c.320T>C						19	SNP	c.(319-321)ATT>ACT	64	64				0	Broad	GRAM domain containing 1A isoform 1			35500871		0.607	ENSG00000089351	6626	g.chr19:35500871T>C		integral to membrane								246.421727	KEEP	34	40	-1	61	57	34	40	-1	247.87231	61	57	0.402299	1	0	0	0	0	1	0	0	0	--	--		0	C			GRAMD1A_uc002nxi.1_Missense_Mutation_p.I194T|GRAMD1A_uc002nxk.2_Missense_Mutation_p.I100T|GRAMD1A_uc002nxl.2_5'UTR|GRAMD1A_uc010xsf.1_Missense_Mutation_p.I112T	206	GBM-28-1747-TP	p.I107T	T	GAACGCCTCATTGTGGGTGAG	NM_020895	NP_065946	35500871	Q96CP6	GRM1A_HUMAN	0	LUSC - Lung squamous cell carcinoma(66;0.0849)		4	457	+	C	C	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		Missense_Mutation	107			GRAM.			
GRAMD1B	57476	broad.mit.edu	GRCh37	11	123485469	123485469	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5412-01	TCGA-06-5412-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000529750.1:c.1815G>A	p.Arg605=	p.R605=	ENST00000529750	NM_020716.1	605	cgG/cgA	0			1			A	R	uc001pyx.2	protein_coding	YES	CCDS53720.1			1815/2217									ovary(1)	1	c.(1813-1815)CGG>CGA			hmmpanther:PTHR23319,hmmpanther:PTHR23319:SF3	GRAM domain containing 1B				ENSP00000436500		16/20									COSM3397498,COSM3397497	16/20	.		ENST00000529750	Transcript				integral to membrane		ENSG00000023171	g.chr11:123485469G>A	29214			LOW								--	--	1																																		GRAMD1B_uc001pyw.2_Silent_p.R612R|GRAMD1B_uc010rzw.1_Silent_p.R565R|GRAMD1B_uc010rzx.1_Silent_p.R565R|GRAMD1B_uc001pyy.2_Silent_p.R296R	1,1	1			p.R605R	NM_020716	NP_065767			1,1	GRM1B_HUMAN	GRAMD1B	HGNC	Q3KR37	GRM1B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)			16	2144	+		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	UPI00005C3025	605					SNV	GRAMD1B,synonymous_variant,p.=,ENST00000529750,NM_020716.1;GRAMD1B,synonymous_variant,p.=,ENST00000529432,NM_001286564.1;GRAMD1B,synonymous_variant,p.=,ENST00000456860,NM_001286563.1;GRAMD1B,synonymous_variant,p.=,ENST00000322282,;GRAMD1B,synonymous_variant,p.=,ENST00000450171,;GRAMD1B,downstream_gene_variant,,ENST00000534764,;GRAMD1B,non_coding_transcript_exon_variant,,ENST00000532581,;GRAMD1B,non_coding_transcript_exon_variant,,ENST00000525945,;	uc001pyx.2	c.1815G>A	2142/7723	2	2			c.1815G>A						11	SNP	c.(1813-1815)CGG>CGA	33	33			ovary(1)	1	Broad	GRAM domain containing 1B			123485469		0.537	ENSG00000023171	6627	g.chr11:123485469G>A		integral to membrane				1503			1503	-2.408882	KEEP	1	3	-1	27	23	1	3	-1	6.348009	27	23	0.066667	1	0	0	0	0	0	0	1	0	--	--		0	A			GRAMD1B_uc001pyw.2_Silent_p.R612R|GRAMD1B_uc010rzw.1_Silent_p.R565R|GRAMD1B_uc010rzx.1_Silent_p.R565R|GRAMD1B_uc001pyy.2_Silent_p.R296R	95	GBM-06-5412-TP	p.R605R	G	CACAGACGCGGCATATCCCGG	NM_020716	NP_065767	123485469	Q3KR37	GRM1B_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)	16	2144	+	A	A		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	Silent	605						
GRAMD1B	57476		GRCh37	11	123471245	123471245	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000529750.1:c.610C>G	p.Leu204Val	p.L204V	ENST00000529750	NM_020716.1	204	Ctc/Gtc	0																																																																																																																																																																																																																																												
GRAMD2	0	broad.mit.edu	GRCh37	15	72460907	72460907	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01	TCGA-02-2483-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309731.7:c.193A>G	p.Ile65Val	p.I65V	ENST00000309731	NM_001012642.2	65	Ata/Gta	0			1			C	I/V	uc002atq.2	protein_coding	YES	CCDS32283.1			193/1065										0	c.(193-195)ATA>GTA			hmmpanther:PTHR23319,hmmpanther:PTHR23319:SF7	GRAM domain containing 2				ENSP00000311657		12-Apr									COSM2149132	12-Apr	.		ENST00000309731	Transcript				integral to membrane		ENSG00000175318	g.chr15:72460907T>C	27287			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=GRAM2_HUMAN&rb=21&re=101&var=I65V	NA	getma.org/?cm=var&var=hg19,15,72460907,T,C&fts=all	I65V	--	--	1																																		GRAMD2_uc010bis.2_Missense_Mutation_p.I65V	1	1		benign(0.002)	p.I65V	NM_001012642	NP_001012660		tolerated(0.56)	1	GRAM2_HUMAN	GRAMD2	HGNC	Q8IUY3	GRAM2_HUMAN			B4E188_HUMAN		4	217	-			UPI00001FE7DE	65					SNV	GRAMD2,missense_variant,p.Ile65Val,ENST00000309731,NM_001012642.2;GRAMD2,missense_variant,p.Ile55Val,ENST00000564129,;GRAMD2,missense_variant,p.Ile58Val,ENST00000568594,;GRAMD2,missense_variant,p.Ile53Val,ENST00000570275,;GRAMD2,upstream_gene_variant,,ENST00000564184,;GRAMD2,downstream_gene_variant,,ENST00000563133,;GRAMD2,downstream_gene_variant,,ENST00000569450,;GRAMD2,splice_region_variant,,ENST00000567637,;GRAMD2,splice_region_variant,,ENST00000562288,;GRAMD2,upstream_gene_variant,,ENST00000567662,;GRAMD2,upstream_gene_variant,,ENST00000565233,;GRAMD2,upstream_gene_variant,,ENST00000567029,;GRAMD2,upstream_gene_variant,,ENST00000564773,;	uc002atq.2	c.193A>G	207/3281	3	3			c.193A>G						15	SNP	c.(193-195)ATA>GTA	64	64				0	Broad	GRAM domain containing 2			72460907		0.542	ENSG00000175318	6629	g.chr15:72460907T>C		integral to membrane								108.006172	KEEP	10	22	-1	22	37	10	22	-1	109.075915	22	37	0.378049	1	0	0	0	0	1	0	0	0	--	--		0	C			GRAMD2_uc010bis.2_Missense_Mutation_p.I65V	6	GBM-02-2483-TP	p.I65V	T	TTCAGTGTTATCTGCAAACAC	NM_001012642	NP_001012660	72460907	Q8IUY3	GRAM2_HUMAN	0			4	217	-	C	C			Missense_Mutation	65						
GRAMD3	0	broad.mit.edu	GRCh37	5	125821443	125821443	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-12-0619-01	TCGA-12-0619-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285689.3:c.1036A>T	p.Ile346Phe	p.I346F	ENST00000285689	NM_023927.2	346	Att/Ttt	0			1			T	I/F	uc003ktu.2	protein_coding		CCDS4136.1			1036/1299									central_nervous_system(1)	1	c.(1036-1038)ATT>TTT			Transmembrane_helices:TMhelix,hmmpanther:PTHR23319,hmmpanther:PTHR23319:SF5	GRAM domain containing 3 isoform 2				ENSP00000285689		14-Nov									COSM2153637	14-Nov	.		ENST00000285689	Transcript						ENSG00000155324	g.chr5:125821443A>T	24911			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=GRAM3_HUMAN&rb=178&re=377&var=I346F	NA	getma.org/?cm=var&var=hg19,5,125821443,A,T&fts=all	I346F	--	--	1																																		GRAMD3_uc011cwt.1_Missense_Mutation_p.I361F|GRAMD3_uc011cwv.1_Missense_Mutation_p.I354F|GRAMD3_uc011cww.1_Missense_Mutation_p.I242F|GRAMD3_uc011cwx.1_RNA|GRAMD3_uc011cwy.1_Missense_Mutation_p.I237F|GRAMD3_uc011cwz.1_Missense_Mutation_p.I330F	1			benign(0.439)	p.I346F	NM_023927	NP_076416		deleterious(0.01)	1	GRAM3_HUMAN	GRAMD3	HGNC	Q96HH9	GRAM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)	Q9BYJ8_HUMAN,B7Z4W8_HUMAN		11	1466	+		Prostate(80;0.0928)	UPI000006F43A	346					SNV	GRAMD3,missense_variant,p.Ile346Phe,ENST00000285689,NM_023927.2;GRAMD3,missense_variant,p.Ile324Phe,ENST00000515200,;GRAMD3,missense_variant,p.Ile354Phe,ENST00000542322,NM_001146321.1;GRAMD3,missense_variant,p.Ile242Phe,ENST00000544396,NM_001146320.1;GRAMD3,missense_variant,p.Ile361Phe,ENST00000513040,NM_001146319.1;GRAMD3,missense_variant,p.Ile330Phe,ENST00000511134,NM_001146322.1;GRAMD3,missense_variant,p.Ile324Phe,ENST00000543198,;GRAMD3,missense_variant,p.Ile237Phe,ENST00000502348,;GRAMD3,downstream_gene_variant,,ENST00000506445,;RP11-517I3.1,intron_variant,,ENST00000515808,;RP11-517I3.1,intron_variant,,ENST00000512500,;GRAMD3,non_coding_transcript_exon_variant,,ENST00000512579,;GRAMD3,3_prime_UTR_variant,,ENST00000513978,;GRAMD3,3_prime_UTR_variant,,ENST00000514099,;GRAMD3,downstream_gene_variant,,ENST00000508523,;GRAMD3,downstream_gene_variant,,ENST00000504859,;	uc003ktu.2	c.1036A>T	1497/3175	2	2			c.1036A>T						5	SNP	c.(1036-1038)ATT>TTT	28	28			central_nervous_system(1)	1	Broad	GRAM domain containing 3 isoform 2			125821443		0.348	ENSG00000155324	6630	g.chr5:125821443A>T										122.32948	KEEP	24	21	-1	39	39	24	21	-1	124.088326	39	39	0.361905	1	0	0	0	0	1	0	0	0	--	--		0	T			GRAMD3_uc011cwt.1_Missense_Mutation_p.I361F|GRAMD3_uc011cwv.1_Missense_Mutation_p.I354F|GRAMD3_uc011cww.1_Missense_Mutation_p.I242F|GRAMD3_uc011cwx.1_RNA|GRAMD3_uc011cwy.1_Missense_Mutation_p.I237F|GRAMD3_uc011cwz.1_Missense_Mutation_p.I330F	120	GBM-12-0619-TP	p.I346F	A	GCTTCACCATATTCTTATATT	NM_023927	NP_076416	125821443	Q96HH9	GRAM3_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)	11	1466	+	T	T		Prostate(80;0.0928)	Missense_Mutation	346						
GRAMD3	0	broad.mit.edu	GRCh37	5	125822670	125822670	+	splice_donor_variant	Splice_Site	SNP	G	G	T			TCGA-32-4211-01	TCGA-32-4211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285689.3:c.1163+1G>T		p.X388_splice	ENST00000285689	NM_023927.2			0			1			T		uc003ktu.2	protein_coding		CCDS4136.1			1163/1299									central_nervous_system(1)	1	c.e12+1				GRAM domain containing 3 isoform 2				ENSP00000285689											COSM3409691		.		ENST00000285689	Transcript						ENSG00000155324	g.chr5:125822670G>T	24911			HIGH	13-Dec							--	--	1																																		GRAMD3_uc011cwt.1_Splice_Site_p.E403_splice|GRAMD3_uc011cwv.1_Splice_Site_p.E396_splice|GRAMD3_uc011cww.1_Splice_Site_p.E284_splice|GRAMD3_uc011cwx.1_Splice_Site|GRAMD3_uc011cwy.1_Splice_Site_p.E279_splice|GRAMD3_uc011cwz.1_Splice_Site_p.E372_splice	1				p.E388_splice	NM_023927	NP_076416			1	GRAM3_HUMAN	GRAMD3	HGNC	Q96HH9	GRAM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)	Q9BYJ8_HUMAN,B7Z4W8_HUMAN		12	1593	+		Prostate(80;0.0928)	UPI000006F43A						SNV	GRAMD3,splice_donor_variant,,ENST00000285689,NM_023927.2;GRAMD3,splice_donor_variant,,ENST00000515200,;GRAMD3,splice_donor_variant,,ENST00000542322,NM_001146321.1;GRAMD3,splice_donor_variant,,ENST00000544396,NM_001146320.1;GRAMD3,splice_donor_variant,,ENST00000513040,NM_001146319.1;GRAMD3,splice_donor_variant,,ENST00000511134,NM_001146322.1;GRAMD3,splice_donor_variant,,ENST00000543198,;GRAMD3,splice_donor_variant,,ENST00000502348,;GRAMD3,downstream_gene_variant,,ENST00000506445,;RP11-517I3.1,intron_variant,,ENST00000515808,;RP11-517I3.1,intron_variant,,ENST00000512500,;GRAMD3,downstream_gene_variant,,ENST00000512579,;GRAMD3,splice_donor_variant,,ENST00000513978,;GRAMD3,splice_donor_variant,,ENST00000514099,;GRAMD3,downstream_gene_variant,,ENST00000508523,;GRAMD3,downstream_gene_variant,,ENST00000504859,;	uc003ktu.2	c.1163_splice	-/3175	5	1			c.1163_splice						5	SNP	c.e12+1	1	1			central_nervous_system(1)	1	Broad	GRAM domain containing 3 isoform 2			125822670		0.403	ENSG00000155324	6630	g.chr5:125822670G>T										-6.131931	KEEP	2	2	0.5	39	29	2	2	0.5	7.873839	39	29	0.046875	1	0	0	0	0	0	0	0	1	--	--		0	T			GRAMD3_uc011cwt.1_Splice_Site_p.E403_splice|GRAMD3_uc011cwv.1_Splice_Site_p.E396_splice|GRAMD3_uc011cww.1_Splice_Site_p.E284_splice|GRAMD3_uc011cwx.1_Splice_Site|GRAMD3_uc011cwy.1_Splice_Site_p.E279_splice|GRAMD3_uc011cwz.1_Splice_Site_p.E372_splice	246	GBM-32-4211-TP	p.E388_splice	G	ATAATACTGAGTAAGACGATT	NM_023927	NP_076416	125822670	Q96HH9	GRAM3_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)	12	1593	+	T	T		Prostate(80;0.0928)	Splice_Site							
GRB10	2887	broad.mit.edu	GRCh37	7	50742172	50742172	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0169-01	TCGA-06-0169-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398812.2:c.323G>C	p.Arg108Thr	p.R108T	ENST00000398812	NM_005311.4	108	aGg/aCg	0			1			G	R/T	uc003tpi.2	protein_coding	YES	CCDS43582.1			323/1785									lung(3)|ovary(2)|upper_aerodigestive_tract(1)	6	c.(322-324)AGG>ACG			hmmpanther:PTHR11243,hmmpanther:PTHR11243:SF4,Low_complexity_(Seg):seg	growth factor receptor-bound protein 10 isoform				ENSP00000381793		16-Mar									COSM2150289,COSM2150290	16-Mar	.	Russell-Silver_syndrome	ENST00000398812	Transcript			insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity	ENSG00000106070	g.chr7:50742172C>G	4564			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=GRB10_HUMAN&rb=1&re=165&var=R108T	NA	getma.org/?cm=var&var=hg19,7,50742172,C,G&fts=all	R108T	--	--	1																																		GRB10_uc003tph.3_Missense_Mutation_p.R50T|GRB10_uc003tpj.2_Missense_Mutation_p.R108T|GRB10_uc003tpk.2_Missense_Mutation_p.R108T|GRB10_uc010kzb.2_Missense_Mutation_p.R50T|GRB10_uc003tpl.2_Missense_Mutation_p.R102T|GRB10_uc003tpm.2_Missense_Mutation_p.R50T|GRB10_uc003tpn.2_Missense_Mutation_p.R50T	1,1	1		benign(0.027)	p.R108T	NM_005311	NP_005302		tolerated(0.2)	1,1	GRB10_HUMAN	GRB10	HGNC	Q13322	GRB10_HUMAN			Q75MT1_HUMAN,Q75M93_HUMAN		3	354	-	Glioma(55;0.08)|all_neural(89;0.245)		UPI000012BA84	108					SNV	GRB10,missense_variant,p.Arg102Thr,ENST00000403097,;GRB10,missense_variant,p.Arg50Thr,ENST00000335866,NM_001001555.2;GRB10,missense_variant,p.Arg50Thr,ENST00000398810,NM_001001550.2;GRB10,missense_variant,p.Arg50Thr,ENST00000402578,;GRB10,missense_variant,p.Arg108Thr,ENST00000398812,NM_005311.4;GRB10,missense_variant,p.Arg102Thr,ENST00000439599,;GRB10,missense_variant,p.Arg50Thr,ENST00000406641,;GRB10,missense_variant,p.Arg108Thr,ENST00000401949,;GRB10,missense_variant,p.Arg50Thr,ENST00000402497,;GRB10,missense_variant,p.Arg50Thr,ENST00000407526,;GRB10,missense_variant,p.Arg108Thr,ENST00000357271,NM_001001549.2;GRB10,missense_variant,p.Arg102Thr,ENST00000439044,;	uc003tpi.2	c.323G>C	354/4705	3	3			c.323G>C						7	SNP	c.(322-324)AGG>ACG	3	3			lung(3)|ovary(2)|upper_aerodigestive_tract(1)	6	Broad	growth factor receptor-bound protein 10 isoform			50742172	Russell-Silver_syndrome	0.657	ENSG00000106070	6635	g.chr7:50742172C>G	insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity							43.538563	KEEP	10	11	-1	36	28	10	11	-1	47.940203	36	28	0.239437	1	0	0	0	0	1	0	0	0	--	--		0	G			GRB10_uc003tph.3_Missense_Mutation_p.R50T|GRB10_uc003tpj.2_Missense_Mutation_p.R108T|GRB10_uc003tpk.2_Missense_Mutation_p.R108T|GRB10_uc010kzb.2_Missense_Mutation_p.R50T|GRB10_uc003tpl.2_Missense_Mutation_p.R102T|GRB10_uc003tpm.2_Missense_Mutation_p.R50T|GRB10_uc003tpn.2_Missense_Mutation_p.R50T	34	GBM-06-0169-TP	p.R108T	C	GCGCTGCACCCTCTGCCTCGG	NM_005311	NP_005302	50742172	Q13322	GRB10_HUMAN	0			3	354	-	G	G	Glioma(55;0.08)|all_neural(89;0.245)		Missense_Mutation	108						
GRB10	0	broad.mit.edu	GRCh37	7	50674041	50674041	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5211-01	TCGA-28-5211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398812.2:c.1265C>T	p.Thr422Met	p.T422M	ENST00000398812	NM_005311.4	422	aCg/aTg	0			1			A	T/M	uc003tpi.2	protein_coding	YES	CCDS43582.1			1265/1785									lung(3)|ovary(2)|upper_aerodigestive_tract(1)	6	c.(1264-1266)ACG>ATG			hmmpanther:PTHR11243,hmmpanther:PTHR11243:SF4	growth factor receptor-bound protein 10 isoform				ENSP00000381793		16-Nov									COSM1090639,COSM1090640	16-Nov	.	Russell-Silver_syndrome	ENST00000398812	Transcript			insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity	ENSG00000106070	g.chr7:50674041G>A	4564			MODERATE		0.97	low	getma.org/?cm=msa&ty=f&p=GRB10_HUMAN&rb=370&re=454&var=T422M	getma.org/pdb.php?prot=GRB10_HUMAN&from=400&to=424&var=T422M	getma.org/?cm=var&var=hg19,7,50674041,G,A&fts=all	T422M	--	--	1																																		GRB10_uc003tph.3_Missense_Mutation_p.T364M|GRB10_uc003tpj.2_Missense_Mutation_p.T376M|GRB10_uc003tpk.2_Missense_Mutation_p.T422M|GRB10_uc010kzb.2_Missense_Mutation_p.T364M|GRB10_uc003tpl.2_Missense_Mutation_p.T416M|GRB10_uc003tpm.2_Missense_Mutation_p.T364M|GRB10_uc003tpn.2_Missense_Mutation_p.T364M	1,1	1		benign(0.028)	p.T422M	NM_005311	NP_005302		deleterious(0.04)	1,1	GRB10_HUMAN	GRB10	HGNC	Q13322	GRB10_HUMAN			Q75MT1_HUMAN,Q75M93_HUMAN		11	1296	-	Glioma(55;0.08)|all_neural(89;0.245)		UPI000012BA84	422					SNV	GRB10,missense_variant,p.Thr416Met,ENST00000403097,;GRB10,missense_variant,p.Thr364Met,ENST00000335866,NM_001001555.2;GRB10,missense_variant,p.Thr364Met,ENST00000398810,NM_001001550.2;GRB10,missense_variant,p.Thr364Met,ENST00000402578,;GRB10,missense_variant,p.Thr422Met,ENST00000398812,NM_005311.4;GRB10,missense_variant,p.Thr416Met,ENST00000439599,;GRB10,missense_variant,p.Thr364Met,ENST00000406641,;GRB10,missense_variant,p.Thr422Met,ENST00000401949,;GRB10,missense_variant,p.Thr364Met,ENST00000402497,;GRB10,missense_variant,p.Thr364Met,ENST00000407526,;GRB10,missense_variant,p.Thr376Met,ENST00000357271,NM_001001549.2;GRB10,non_coding_transcript_exon_variant,,ENST00000473696,;GRB10,non_coding_transcript_exon_variant,,ENST00000482397,;	uc003tpi.2	c.1265C>T	1296/4705	1	1			c.1265C>T						7	SNP	c.(1264-1266)ACG>ATG	50	50			lung(3)|ovary(2)|upper_aerodigestive_tract(1)	6	Broad	growth factor receptor-bound protein 10 isoform			50674041	Russell-Silver_syndrome	0.517	ENSG00000106070	6635	g.chr7:50674041G>A	insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity							33.618889	KEEP	15	20	-1	63	65	15	20	-1	44.162943	63	65	0.206107	1	0	0	0	0	1	0	0	0	--	--		0	A			GRB10_uc003tph.3_Missense_Mutation_p.T364M|GRB10_uc003tpj.2_Missense_Mutation_p.T376M|GRB10_uc003tpk.2_Missense_Mutation_p.T422M|GRB10_uc010kzb.2_Missense_Mutation_p.T364M|GRB10_uc003tpl.2_Missense_Mutation_p.T416M|GRB10_uc003tpm.2_Missense_Mutation_p.T364M|GRB10_uc003tpn.2_Missense_Mutation_p.T364M	219	GBM-28-5211-TP	p.T422M	G	TACCACTGGCGTCGAGAACGG	NM_005311	NP_005302	50674041	Q13322	GRB10_HUMAN	0			11	1296	-	A	A	Glioma(55;0.08)|all_neural(89;0.245)		Missense_Mutation	422						
GRB7	2886	broad.mit.edu	GRCh37	17	37902194	37902194	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-2558-01	TCGA-06-2558-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000445327.2:c.1368C>A	p.His456Gln	p.H456Q	ENST00000445327	NM_001242442.1	456	caC/caA	0			1			A	H/Q	uc002hsr.2	protein_coding		CCDS11345.1			1299/1599									lung(2)|ovary(1)|breast(1)|skin(1)	5	c.(1297-1299)CAC>CAA			PROSITE_profiles:PS50001,hmmpanther:PTHR11243,hmmpanther:PTHR11243:SF24,Gene3D:3.30.505.10,Pfam_domain:PF00017,SMART_domains:SM00252,Superfamily_domains:SSF55550,Prints_domain:PR00401	growth factor receptor-bound protein 7				ENSP00000310771		13/15									COSM3402831,COSM3402830	13/15	.		ENST00000309156	Transcript			blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	ENSG00000141738	g.chr17:37902194C>A	4567			MODERATE		3.1	medium	getma.org/?cm=msa&ty=f&p=GRB7_HUMAN&rb=431&re=512&var=H433Q	getma.org/pdb.php?prot=GRB7_HUMAN&from=431&to=512&var=H433Q	getma.org/?cm=var&var=hg19,17,37902194,C,A&fts=all	H433Q	--	--	1																																		GRB7_uc002hss.2_Missense_Mutation_p.H433Q|GRB7_uc010cwc.2_Missense_Mutation_p.H433Q|GRB7_uc002hst.2_Intron	1,1			probably_damaging(0.983)	p.H433Q	NM_005310	NP_005301		deleterious(0)	1,1	GRB7_HUMAN	GRB7	HGNC	Q14451	GRB7_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)				13	1549	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UPI000013D841	433			SH2.		SNV	GRB7,missense_variant,p.His433Gln,ENST00000309156,NM_005310.3;GRB7,missense_variant,p.His456Gln,ENST00000445327,NM_001242442.1;GRB7,missense_variant,p.His433Gln,ENST00000394211,NM_001030002.2;GRB7,missense_variant,p.His433Gln,ENST00000394209,NM_001242443.1;GRB7,intron_variant,,ENST00000309185,;GRB7,intron_variant,,ENST00000394204,;GRB7,downstream_gene_variant,,ENST00000577695,;GRB7,downstream_gene_variant,,ENST00000578702,;GRB7,downstream_gene_variant,,ENST00000584819,;GRB7,downstream_gene_variant,,ENST00000485182,;GRB7,downstream_gene_variant,,ENST00000584053,;GRB7,downstream_gene_variant,,ENST00000583813,;GRB7,downstream_gene_variant,,ENST00000461756,;GRB7,downstream_gene_variant,,ENST00000473071,;	uc002hsr.2	c.1299C>A	1556/2243	2	2			c.1299C>A						17	SNP	c.(1297-1299)CAC>CAA	47	47			lung(2)|ovary(1)|breast(1)|skin(1)	5	Broad	growth factor receptor-bound protein 7			37902194		0.617	ENSG00000141738	6638	g.chr17:37902194C>A	blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			187			187	-65.460741	KEEP	4	4	0.5	192	180	4	4	0.5	11.511402	192	180	0.023026	1	0	0	0	0	1	0	0	0	--	--		0	A			GRB7_uc002hss.2_Missense_Mutation_p.H433Q|GRB7_uc010cwc.2_Missense_Mutation_p.H433Q|GRB7_uc002hst.2_Intron	82	GBM-06-2558-TP	p.H433Q	C	TCTGGTTCCACGGGCGCATTT	NM_005310	NP_005301	37902194	Q14451	GRB7_HUMAN	0	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		13	1549	+	A	A	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		Missense_Mutation	433			SH2.			
GRB7	2886		GRCh37	17	37901165	37901165	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000445327.2:c.1008G>C	p.Lys336Asn	p.K336N	ENST00000445327	NM_001242442.1	336	aaG/aaC	0																																																																																																																																																																																																																																												
GREB1	9687	broad.mit.edu	GRCh37	2	11706613	11706613	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0213-01	TCGA-06-0213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381486.2:c.285C>T	p.Cys95=	p.C95=	ENST00000381486	NM_014668.3	95	tgC/tgT	0			1			T	C	uc002rbk.1	protein_coding		CCDS42655.1			285/5850									ovary(1)	1	c.(283-285)TGC>TGT			hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF13	growth regulation by estrogen in breast cancer 1				ENSP00000234142		Mar-32									COSM3406814,COSM3406815,COSM3406813	Mar-32	.		ENST00000234142	Transcript				integral to membrane		ENSG00000196208	g.chr2:11706613C>T	24885			LOW								--	--	1																																		GREB1_uc002rbl.2_Silent_p.C95C|GREB1_uc002rbm.2_5'UTR|GREB1_uc002rbn.1_Silent_p.C95C	1,1,1				p.C95C	NM_014668	NP_055483			1,1,1	GREB1_HUMAN	GREB1	HGNC	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)			4	585	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		UPI0000163937	95					SNV	GREB1,synonymous_variant,p.=,ENST00000381486,NM_014668.3;GREB1,synonymous_variant,p.=,ENST00000234142,;GREB1,synonymous_variant,p.=,ENST00000263834,NM_148903.2;GREB1,synonymous_variant,p.=,ENST00000381483,NM_033090.2;GREB1,5_prime_UTR_variant,,ENST00000389825,;RNA5SP85,upstream_gene_variant,,ENST00000365378,;GREB1,downstream_gene_variant,,ENST00000470980,;	uc002rbk.1	c.285C>T	547/8444	2	2			c.285C>T						2	SNP	c.(283-285)TGC>TGT	17	17			ovary(1)	1	Broad	growth regulation by estrogen in breast cancer 1			11706613		0.642	ENSG00000196208	6639	g.chr2:11706613C>T		integral to membrane		Ovarian(39;850 945 2785 23371 33093)			Ovarian(39;850 945 2785 23371 33093)			-19.199524	KEEP	4	1	-1	68	54	4	1	-1	7.02425	68	54	0.035714	1	0	0	0	0	0	0	1	0	--	--		0	T			GREB1_uc002rbl.2_Silent_p.C95C|GREB1_uc002rbm.2_5'UTR|GREB1_uc002rbn.1_Silent_p.C95C	49	GBM-06-0213-TP	p.C95C	C	TAGGGTTTTGCCAGGCCGGGA	NM_014668	NP_055483	11706613	Q4ZG55	GREB1_HUMAN	0		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	4	585	+	T	T	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		Silent	95						
GRHL1	0	broad.mit.edu	GRCh37	2	10102621	10102621	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324907.9:c.707G>A	p.Gly236Asp	p.G236D	ENST00000324907	NM_198182.2	236	gGc/gAc	0			1			A	G/D	uc002raa.2	protein_coding	YES	CCDS33144.2			707/1857									pancreas(1)|skin(1)	2	c.(706-708)GGC>GAC			hmmpanther:PTHR11037,hmmpanther:PTHR11037:SF16	grainyhead-like 1				ENSP00000324693		16-May									COSM2979820,COSM3390821	16-May	.		ENST00000324907	Transcript			cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding	ENSG00000134317	g.chr2:10102621G>A	17923			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=GRHL1_HUMAN&rb=215&re=444&var=G236D	NA	getma.org/?cm=var&var=hg19,2,10102621,G,A&fts=all	G236D	--	--	1																																		GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Intron|GRHL1_uc010yjb.1_Missense_Mutation_p.G85D	1,1	1		benign(0.111)	p.G236D	NM_198182	NP_937825		tolerated(0.33)	1,1	GRHL1_HUMAN	GRHL1	HGNC	Q9NZI5	GRHL1_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)	F8WFB0_HUMAN,C9JYY8_HUMAN		5	878	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		UPI00001E0586	236					SNV	GRHL1,missense_variant,p.Gly236Asp,ENST00000324907,NM_198182.2;GRHL1,missense_variant,p.Gly236Asp,ENST00000405379,;GRHL1,intron_variant,,ENST00000324883,;GRHL1,missense_variant,p.Gly236Asp,ENST00000472167,;GRHL1,non_coding_transcript_exon_variant,,ENST00000497403,;GRHL1,non_coding_transcript_exon_variant,,ENST00000494520,;GRHL1,intron_variant,,ENST00000464418,;GRHL1,downstream_gene_variant,,ENST00000439493,;	uc002raa.2	c.707G>A	843/3563	2	2			c.707G>A						2	SNP	c.(706-708)GGC>GAC	35	35			pancreas(1)|skin(1)	2	Broad	grainyhead-like 1			10102621		0.358	ENSG00000134317	6642	g.chr2:10102621G>A	cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding							-0.408058	KEEP	2	1	-1	24	17	2	1	-1	6.740154	24	17	0.076923	1	0	0	0	0	1	0	0	0	--	--		0	A			GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Intron|GRHL1_uc010yjb.1_Missense_Mutation_p.G85D	125	GBM-12-3649-TP	p.G236D	G	CGGATGCCTGGCATGAATTCA	NM_198182	NP_937825	10102621	Q9NZI5	GRHL1_HUMAN	0		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)	5	878	+	A	A	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		Missense_Mutation	236						
GRHL2	0	broad.mit.edu	GRCh37	8	102649132	102649132	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-41-2575-01	TCGA-41-2575-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251808.3:c.1493A>G	p.Tyr498Cys	p.Y498C	ENST00000251808	NM_024915.3	498	tAc/tGc	0			1			G	Y/C	uc010mbu.2	protein_coding	YES	CCDS34931.1			1493/1878									ovary(2)|skin(1)	3	c.(1492-1494)TAC>TGC			hmmpanther:PTHR11037,hmmpanther:PTHR11037:SF17	transcription factor CP2-like 3				ENSP00000251808		16-Dec									COSM3412613	16-Dec	.		ENST00000251808	Transcript	1			cytoplasm|nucleus	DNA binding	ENSG00000083307	g.chr8:102649132A>G	2799			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=GRHL2_HUMAN&rb=441&re=625&var=Y498C	NA	getma.org/?cm=var&var=hg19,8,102649132,A,G&fts=all	Y498C	--	--	1																																			1	1		benign(0.353)	p.Y498C	NM_024915	NP_079191		tolerated(0.17)	1	GRHL2_HUMAN	GRHL2	HGNC	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)				12	1823	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		UPI000013CD16	498					SNV	GRHL2,missense_variant,p.Tyr498Cys,ENST00000251808,NM_024915.3;GRHL2,missense_variant,p.Tyr482Cys,ENST00000395927,;GRHL2,non_coding_transcript_exon_variant,,ENST00000517674,;GRHL2,non_coding_transcript_exon_variant,,ENST00000474338,;	uc010mbu.2	c.1493A>G	1831/5239	3	3			c.1493A>G						8	SNP	c.(1492-1494)TAC>TGC	4	4			ovary(2)|skin(1)	3	Broad	transcription factor CP2-like 3			102649132		0.408	ENSG00000083307	6643	g.chr8:102649132A>G		cytoplasm|nucleus	DNA binding							410.633873	KEEP	74	56	-1	70	54	74	56	-1	410.633873	70	54	0.5	1	0	0	0	0	1	0	0	0	--	--		0	G				253	GBM-41-2575-TP	p.Y498C	A	CAGGTGTATTACAACACGGAT	NM_024915	NP_079191	102649132	Q6ISB3	GRHL2_HUMAN	0	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		12	1823	+	G	G	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Missense_Mutation	498						
GRHL3	57822	broad.mit.edu	GRCh37	1	24663202	24663202	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000350501.5:c.497C>T	p.Pro166Leu	p.P166L	ENST00000350501	NM_198174.2	166	cCc/cTc	0			1			T	P/L	uc001biy.2	protein_coding	YES	CCDS252.2			497/1881									ovary(1)	1	c.(511-513)CCC>CTC			hmmpanther:PTHR11037:SF6,hmmpanther:PTHR11037	sister-of-mammalian grainyhead protein isoform				ENSP00000288955		16-Apr									COSM2149734,COSM2149733	16-Apr	.		ENST00000350501	Transcript	1		regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	ENSG00000158055	g.chr1:24663202C>T	25839			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=GRHL3_HUMAN&rb=1&re=195&var=P166L	NA	getma.org/?cm=var&var=hg19,1,24663202,C,T&fts=all	P166L	--	--	1																																		GRHL3_uc001bix.2_Missense_Mutation_p.P166L|GRHL3_uc001biz.2_Missense_Mutation_p.P73L	1,1	1		benign(0.231)	p.P171L	NM_021180	NP_067003		tolerated(0.27)	1,1	GRHL3_HUMAN	GRHL3	HGNC	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	E9PLT6_HUMAN		4	558	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	UPI000049DC7B	166					SNV	GRHL3,missense_variant,p.Pro166Leu,ENST00000361548,NM_198173.2;GRHL3,missense_variant,p.Pro120Leu,ENST00000356046,NM_001195010.1;GRHL3,missense_variant,p.Pro73Leu,ENST00000342072,;GRHL3,missense_variant,p.Pro166Leu,ENST00000350501,NM_198174.2;GRHL3,missense_variant,p.Pro171Leu,ENST00000236255,NM_021180.3;GRHL3,downstream_gene_variant,,ENST00000524724,;GRHL3,non_coding_transcript_exon_variant,,ENST00000530984,;GRHL3,3_prime_UTR_variant,,ENST00000528064,;GRHL3,upstream_gene_variant,,ENST00000528181,;	uc001biy.2	c.512C>T	624/2119	2	2			c.512C>T						1	SNP	c.(511-513)CCC>CTC	35	35			ovary(1)	1	Broad	sister-of-mammalian grainyhead protein isoform			24663202		0.602	ENSG00000158055	6644	g.chr1:24663202C>T	regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding							213.374882	KEEP	37	43	-1	68	75	37	43	-1	216.542005	68	75	0.364103	1	0	0	0	0	1	0	0	0	--	--		0	T			GRHL3_uc001bix.2_Missense_Mutation_p.P166L|GRHL3_uc001biz.2_Missense_Mutation_p.P73L	23	GBM-06-0145-TP	p.P171L	C	TACCTGTTACCCACCACTGAT	NM_021180	NP_067003	24663202	Q8TE85	GRHL3_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	4	558	+	T	T		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	Missense_Mutation	166						
GRHL3	57822	broad.mit.edu	GRCh37	1	24657929	24657929	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01	TCGA-06-0645-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000350501.5:c.31C>T	p.Arg11Trp	p.R11W	ENST00000350501	NM_198174.2	11	Cgg/Tgg	0		A:0	1	A:0		T	R/W	uc001biy.2	protein_coding	YES	CCDS252.2			31/1881									ovary(1)	1	c.(46-48)CGG>TGG			hmmpanther:PTHR11037:SF6,hmmpanther:PTHR11037	sister-of-mammalian grainyhead protein isoform		A:0		ENSP00000288955	A:0.001	16-Feb	2.47E-05		8.64E-05			1.51E-05		6.64E-05	rs202164828,COSM2151273,COSM2151272	16-Feb	.		ENST00000350501	Transcript	1	A:0.0002	regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	ENSG00000158055	g.chr1:24657929C>T	25839			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=GRHL3_HUMAN&rb=1&re=195&var=R11W	NA	getma.org/?cm=var&var=hg19,1,24657929,C,T&fts=all	R11W	--	--	1																																		GRHL3_uc001bix.2_Missense_Mutation_p.R11W|GRHL3_uc001biz.2_Intron	0,1,1	1		possibly_damaging(0.623)	p.R16W	NM_021180	NP_067003	A:0	deleterious(0.01)	0,1,1	GRHL3_HUMAN	GRHL3	HGNC	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	E9PLT6_HUMAN		2	92	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	UPI000049DC7B	11					SNV	GRHL3,missense_variant,p.Arg11Trp,ENST00000361548,NM_198173.2;GRHL3,missense_variant,p.Arg11Trp,ENST00000350501,NM_198174.2;GRHL3,missense_variant,p.Arg16Trp,ENST00000236255,NM_021180.3;GRHL3,5_prime_UTR_variant,,ENST00000356046,NM_001195010.1;GRHL3,5_prime_UTR_variant,,ENST00000342072,;GRHL3,5_prime_UTR_variant,,ENST00000524724,;GRHL3,non_coding_transcript_exon_variant,,ENST00000530984,;GRHL3,intron_variant,,ENST00000528064,;	uc001biy.2	c.46C>T	158/2119	2	2			c.46C>T						1	SNP	c.(46-48)CGG>TGG	30	30			ovary(1)	1	Broad	sister-of-mammalian grainyhead protein isoform			24657929		0.512	ENSG00000158055	6644	g.chr1:24657929C>T	regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding							57.761626	KEEP	17	15	-1	27	35	17	15	-1	60.70325	27	35	0.287671	1	0	0	0	0	1	0	0	0	--	--		0	T			GRHL3_uc001bix.2_Missense_Mutation_p.R11W|GRHL3_uc001biz.2_Intron	59	GBM-06-0645-TP	p.R16W	C	CAGGTCTGTGCGGCTGCTAAA	NM_021180	NP_067003	24657929	Q8TE85	GRHL3_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	2	92	+	T	T		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	Missense_Mutation	11						
GRHL3	57822	broad.mit.edu	GRCh37	1	24661135	24661135	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-5417-01	TCGA-06-5417-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000350501.5:c.205G>T	p.Gly69Cys	p.G69C	ENST00000350501	NM_198174.2	69	Ggt/Tgt	0			1			T	G/C	uc001biy.2	protein_coding	YES	CCDS252.2			205/1881									ovary(1)	1	c.(220-222)GGT>TGT			hmmpanther:PTHR11037:SF6,hmmpanther:PTHR11037	sister-of-mammalian grainyhead protein isoform				ENSP00000288955		16-Mar									COSM3400567,COSM3400566	16-Mar	.		ENST00000350501	Transcript	1		regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	ENSG00000158055	g.chr1:24661135G>T	25839			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=GRHL3_HUMAN&rb=1&re=195&var=G69C	NA	getma.org/?cm=var&var=hg19,1,24661135,G,T&fts=all	G69C	--	--	1																																		GRHL3_uc001bix.2_Missense_Mutation_p.G69C|GRHL3_uc001biz.2_5'UTR	1,1	1		possibly_damaging(0.885)	p.G74C	NM_021180	NP_067003		deleterious(0.05)	1,1	GRHL3_HUMAN	GRHL3	HGNC	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	E9PLT6_HUMAN		3	266	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	UPI000049DC7B	69			Transcription activation.		SNV	GRHL3,missense_variant,p.Gly69Cys,ENST00000361548,NM_198173.2;GRHL3,missense_variant,p.Gly23Cys,ENST00000356046,NM_001195010.1;GRHL3,missense_variant,p.Gly69Cys,ENST00000350501,NM_198174.2;GRHL3,missense_variant,p.Gly74Cys,ENST00000236255,NM_021180.3;GRHL3,missense_variant,p.Gly23Cys,ENST00000524724,;GRHL3,splice_region_variant,,ENST00000342072,;GRHL3,intron_variant,,ENST00000530984,;GRHL3,splice_region_variant,p.=,ENST00000528064,;GRHL3,upstream_gene_variant,,ENST00000528181,;	uc001biy.2	c.220G>T	332/2119	1	1			c.220G>T						1	SNP	c.(220-222)GGT>TGT	2	2			ovary(1)	1	Broad	sister-of-mammalian grainyhead protein isoform			24661135		0.552	ENSG00000158055	6644	g.chr1:24661135G>T	regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding							-31.017425	KEEP	6	10	0.375	162	158	6	10	0.375	30.362983	162	158	0.051903	1	0	0	0	0	1	0	0	0	--	--		0	T			GRHL3_uc001bix.2_Missense_Mutation_p.G69C|GRHL3_uc001biz.2_5'UTR	99	GBM-06-5417-TP	p.G74C	G	CTCTTCTCAGGGTCCCAAGGA	NM_021180	NP_067003	24661135	Q8TE85	GRHL3_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	3	266	+	T	T		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	Missense_Mutation	69			Transcription activation.			
GRIA1	0	broad.mit.edu	GRCh37	5	153065877	153065877	+	synonymous_variant	Silent	SNP	C	C	T	rs140876127		TCGA-12-0688-01	TCGA-12-0688-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285900.5:c.1122C>T	p.Asp374=	p.D374=	ENST00000285900	NM_000827.3	374	gaC/gaT	0	T:0	T:0	1	T:0		T	D	uc003lva.3	protein_coding		CCDS4322.1			1122/2721									ovary(4)|skin(2)	6	c.(1120-1122)GAC>GAT			Gene3D:3.40.190.10,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF157,Superfamily_domains:SSF53822	glutamate receptor, ionotropic, AMPA 1 isoform	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	T:0.001	T:0.0001	ENSP00000285900	T:0	16-Aug	4.12E-05			0.000468		1.50E-05			rs140876127,COSM292344,COSM2153894	16-Aug	common_variant		ENST00000285900	Transcript		T:0.0002	synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	ENSG00000155511	g.chr5:153065877C>T	4571			LOW								--	--	1																																		GRIA1_uc003luy.3_Silent_p.D374D|GRIA1_uc003luz.3_Silent_p.D279D|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Silent_p.D294D|GRIA1_uc011dcx.1_Silent_p.D305D|GRIA1_uc011dcy.1_Silent_p.D384D|GRIA1_uc011dcz.1_Silent_p.D384D|GRIA1_uc010jia.1_Silent_p.D354D	0,1,1				p.D374D	NM_001114183	NP_001107655	T:0		0,1,1	GRIA1_HUMAN	GRIA1	HGNC	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)				8	1487	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	UPI000013DE17	374			Extracellular (Potential).		SNV	GRIA1,synonymous_variant,p.=,ENST00000285900,NM_000827.3,NM_001258019.1;GRIA1,synonymous_variant,p.=,ENST00000518783,NM_001258021.1;GRIA1,synonymous_variant,p.=,ENST00000340592,NM_001258020.1,NM_001114183.1;GRIA1,synonymous_variant,p.=,ENST00000521843,NM_001258023.1;GRIA1,synonymous_variant,p.=,ENST00000448073,NM_001258022.1;GRIA1,synonymous_variant,p.=,ENST00000518142,;GRIA1,non_coding_transcript_exon_variant,,ENST00000481559,;	uc003lva.3	c.1122C>T	1465/5708	2	2			c.1122C>T						5	SNP	c.(1120-1122)GAC>GAT	48	48			ovary(4)|skin(2)	6	Broad	glutamate receptor, ionotropic, AMPA 1 isoform		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	153065877		0.502	ENSG00000155511	6646	g.chr5:153065877C>T	synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding							75.500643	KEEP	14	13	-1	28	32	14	13	-1	78.010264	28	32	0.317647	1	0	0	0	0	0	0	1	0	--	--		0	T			GRIA1_uc003luy.3_Silent_p.D374D|GRIA1_uc003luz.3_Silent_p.D279D|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Silent_p.D294D|GRIA1_uc011dcx.1_Silent_p.D305D|GRIA1_uc011dcy.1_Silent_p.D384D|GRIA1_uc011dcz.1_Silent_p.D384D|GRIA1_uc010jia.1_Silent_p.D354D	121	GBM-12-0688-TP	p.D374D	C	TGAAACATGACGGCATCCGAA	NM_001114183	NP_001107655	153065877	P42261	GRIA1_HUMAN	0	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		8	1487	+	T	T		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Silent	374			Extracellular (Potential).			
GRIA1	0	broad.mit.edu	GRCh37	5	153030021	153030021	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285900.5:c.592C>T	p.Arg198Trp	p.R198W	ENST00000285900	NM_000827.3	198	Cgg/Tgg	0			1			T	R/W	uc003lva.3	protein_coding		CCDS4322.1			592/2721									ovary(4)|skin(2)	6	c.(592-594)CGG>TGG			Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF157,Superfamily_domains:SSF53822	glutamate receptor, ionotropic, AMPA 1 isoform	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)			ENSP00000285900		16-Apr	7.41E-05	9.61E-05	0.00026	0.000116		6.00E-05			rs766140803,COSM3245253,COSM3245254	16-Apr	.		ENST00000285900	Transcript			synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	ENSG00000155511	g.chr5:153030021C>T	4571			MODERATE		1.24	low	getma.org/?cm=msa&ty=f&p=GRIA1_HUMAN&rb=37&re=372&var=R198W	getma.org/pdb.php?prot=GRIA1_HUMAN&from=37&to=372&var=R198W	getma.org/?cm=var&var=hg19,5,153030021,C,T&fts=all	R198W	--	--	1																																		GRIA1_uc003luy.3_Missense_Mutation_p.R198W|GRIA1_uc003luz.3_Missense_Mutation_p.R103W|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.R118W|GRIA1_uc011dcx.1_Missense_Mutation_p.R129W|GRIA1_uc011dcy.1_Missense_Mutation_p.R208W|GRIA1_uc011dcz.1_Missense_Mutation_p.R208W|GRIA1_uc010jia.1_Missense_Mutation_p.R178W	0,1,1			probably_damaging(0.984)	p.R198W	NM_001114183	NP_001107655		deleterious(0)	0,1,1	GRIA1_HUMAN	GRIA1	HGNC	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)				4	957	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	UPI000013DE17	198			Extracellular (Potential).		SNV	GRIA1,missense_variant,p.Arg198Trp,ENST00000285900,NM_000827.3,NM_001258019.1;GRIA1,missense_variant,p.Arg208Trp,ENST00000518783,NM_001258021.1;GRIA1,missense_variant,p.Arg198Trp,ENST00000340592,NM_001258020.1,NM_001114183.1;GRIA1,missense_variant,p.Arg129Trp,ENST00000521843,NM_001258023.1;GRIA1,missense_variant,p.Arg208Trp,ENST00000448073,NM_001258022.1;GRIA1,missense_variant,p.Arg118Trp,ENST00000518142,;GRIA1,non_coding_transcript_exon_variant,,ENST00000518862,;GRIA1,non_coding_transcript_exon_variant,,ENST00000520966,;GRIA1,non_coding_transcript_exon_variant,,ENST00000481559,;	uc003lva.3	c.592C>T	935/5708	2	2			c.592C>T						5	SNP	c.(592-594)CGG>TGG	20	20			ovary(4)|skin(2)	6	Broad	glutamate receptor, ionotropic, AMPA 1 isoform		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	153030021		0.542	ENSG00000155511	6646	g.chr5:153030021C>T	synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding							104.814124	KEEP	25	25	-1	52	64	25	25	-1	107.196398	52	64	0.345133	1	0	0	0	0	1	0	0	0	--	--		0	T			GRIA1_uc003luy.3_Missense_Mutation_p.R198W|GRIA1_uc003luz.3_Missense_Mutation_p.R103W|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.R118W|GRIA1_uc011dcx.1_Missense_Mutation_p.R129W|GRIA1_uc011dcy.1_Missense_Mutation_p.R208W|GRIA1_uc011dcz.1_Missense_Mutation_p.R208W|GRIA1_uc010jia.1_Missense_Mutation_p.R178W	129	GBM-12-5295-TP	p.R198W	C	GAAAAAGGAGCGGCTGGTGGT	NM_001114183	NP_001107655	153030021	P42261	GRIA1_HUMAN	0	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		4	957	+	T	T		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Missense_Mutation	198			Extracellular (Potential).			
GRIA1	0	broad.mit.edu	GRCh37	5	153149798	153149798	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5214-01	TCGA-28-5214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285900.5:c.2093G>A	p.Arg698Gln	p.R698Q	ENST00000285900	NM_000827.3	698	cGg/cAg	0			1			A	R/Q	uc003lva.3	protein_coding		CCDS4322.1			2093/2721									ovary(4)|skin(2)	6	c.(2092-2094)CGG>CAG			Pfam_domain:PF00060,Pfam_domain:PF00497,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF157,SMART_domains:SM00079,Superfamily_domains:SSF53850	glutamate receptor, ionotropic, AMPA 1 isoform	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)			ENSP00000285900		13/16	3.29E-05					1.50E-05		0.000182	rs531706550,COSM3410022,COSM3410023	13/16	.		ENST00000285900	Transcript			synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	ENSG00000155511	g.chr5:153149798G>A	4571			MODERATE		0.03	neutral	getma.org/?cm=msa&ty=f&p=GRIA1_HUMAN&rb=536&re=817&var=R698Q	getma.org/pdb.php?prot=GRIA1_HUMAN&from=536&to=817&var=R698Q	getma.org/?cm=var&var=hg19,5,153149798,G,A&fts=all	R698Q	--	--	1																																		GRIA1_uc003luy.3_Missense_Mutation_p.R698Q|GRIA1_uc003luz.3_Missense_Mutation_p.R603Q|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.R618Q|GRIA1_uc011dcx.1_Missense_Mutation_p.R629Q|GRIA1_uc011dcy.1_Missense_Mutation_p.R708Q|GRIA1_uc011dcz.1_Missense_Mutation_p.R708Q	0,1,1			possibly_damaging(0.705)	p.R698Q	NM_001114183	NP_001107655		tolerated(0.09)	0,1,1	GRIA1_HUMAN	GRIA1	HGNC	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)				13	2458	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	UPI000013DE17	698			Extracellular (Potential).		SNV	GRIA1,missense_variant,p.Arg698Gln,ENST00000285900,NM_000827.3,NM_001258019.1;GRIA1,missense_variant,p.Arg708Gln,ENST00000518783,NM_001258021.1;GRIA1,missense_variant,p.Arg698Gln,ENST00000340592,NM_001258020.1,NM_001114183.1;GRIA1,missense_variant,p.Arg629Gln,ENST00000521843,NM_001258023.1;GRIA1,missense_variant,p.Arg708Gln,ENST00000448073,NM_001258022.1;GRIA1,missense_variant,p.Arg618Gln,ENST00000518142,;	uc003lva.3	c.2093G>A	2436/5708	1	1			c.2093G>A						5	SNP	c.(2092-2094)CGG>CAG	53	53			ovary(4)|skin(2)	6	Broad	glutamate receptor, ionotropic, AMPA 1 isoform		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	153149798		0.468	ENSG00000155511	6646	g.chr5:153149798G>A	synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding							-38.062974	KEEP	3	2	-1	87	94	3	2	-1	7.496198	87	94	0.022346	1	0	0	0	0	1	0	0	0	--	--		0	A			GRIA1_uc003luy.3_Missense_Mutation_p.R698Q|GRIA1_uc003luz.3_Missense_Mutation_p.R603Q|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.R618Q|GRIA1_uc011dcx.1_Missense_Mutation_p.R629Q|GRIA1_uc011dcy.1_Missense_Mutation_p.R708Q|GRIA1_uc011dcz.1_Missense_Mutation_p.R708Q	221	GBM-28-5214-TP	p.R698Q	G	GTTTTTGTGCGGACCACAGAG	NM_001114183	NP_001107655	153149798	P42261	GRIA1_HUMAN	0	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		13	2458	+	A	A		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Missense_Mutation	698			Extracellular (Potential).			
GRIA1	2890		GRCh37	5	153190767	153190767	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000518783.1:c.2733G>A	p.Leu911=	p.L911=	ENST00000518783	NM_001258021.1	911	ttG/ttA	0																																																																																																																																																																																																																																												
GRIA2	2891	broad.mit.edu	GRCh37	4	158234012	158234012	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0126-01	TCGA-06-0126-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296526.7:c.651C>T	p.Asn217=	p.N217=	ENST00000296526	NM_000826.3	217	aaC/aaT	0			1			T	N	uc003ipm.3	protein_coding		CCDS43274.1			651/2652								p.N217N(1)	central_nervous_system(3)|ovary(1)	4	c.(649-651)AAC>AAT			hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF99,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822	glutamate receptor, ionotropic, AMPA 2 isoform 2	L-Glutamic Acid(DB00142)			ENSP00000264426		16-Apr	8.24E-05	9.70E-05		0.000116		6.08E-05		0.000279	rs774807805,COSM35357,COSM2149417	16-Apr	.		ENST00000264426	Transcript			synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	ENSG00000120251	g.chr4:158234012C>T	4572			LOW								--	--	1																																		GRIA2_uc011cit.1_Silent_p.N170N|GRIA2_uc003ipl.3_Silent_p.N217N|GRIA2_uc003ipk.3_Silent_p.N170N|GRIA2_uc010iqh.1_RNA	0,1,1				p.N217N	NM_001083619	NP_001077088			0,1,1	GRIA2_HUMAN	GRIA2	HGNC	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	D6RFM6_HUMAN,D6REK8_HUMAN,D6RDX5_HUMAN,D6RBV7_HUMAN,D6R9Z0_HUMAN		4	1110	+	all_hematologic(180;0.24)	Renal(120;0.0458)	UPI000012B7C2	217			Extracellular (Potential).		SNV	GRIA2,synonymous_variant,p.=,ENST00000296526,NM_000826.3;GRIA2,synonymous_variant,p.=,ENST00000393815,NM_001083620.1;GRIA2,synonymous_variant,p.=,ENST00000449365,;GRIA2,synonymous_variant,p.=,ENST00000264426,NM_001083619.1;GRIA2,synonymous_variant,p.=,ENST00000507898,;GRIA2,synonymous_variant,p.=,ENST00000503437,;GRIA2,downstream_gene_variant,,ENST00000505888,;GRIA2,synonymous_variant,p.=,ENST00000323661,;GRIA2,non_coding_transcript_exon_variant,,ENST00000471736,;	uc003ipm.3	c.651C>T	930/3445	1	1			c.651C>T						4	SNP	c.(649-651)AAC>AAT	12	12		p.N217N(1)	central_nervous_system(3)|ovary(1)	4	Broad	glutamate receptor, ionotropic, AMPA 2 isoform 2		L-Glutamic Acid(DB00142)	158234012		0.373	ENSG00000120251	6647	g.chr4:158234012C>T	synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity							153.74754	KEEP	25	33	-1	70	54	25	33	-1	158.356379	70	54	0.320988	1	0	0	0	0	0	0	1	0	--	--		0	T			GRIA2_uc011cit.1_Silent_p.N170N|GRIA2_uc003ipl.3_Silent_p.N217N|GRIA2_uc003ipk.3_Silent_p.N170N|GRIA2_uc010iqh.1_RNA	13	GBM-06-0126-TP	p.N217N	C	ATAAAGTAAACGACATTGTAG	NM_001083619	NP_001077088	158234012	P42262	GRIA2_HUMAN	0		COAD - Colon adenocarcinoma(41;0.0294)	4	1110	+	T	T	all_hematologic(180;0.24)	Renal(120;0.0458)	Silent	217			Extracellular (Potential).			
GRIA2	0	broad.mit.edu	GRCh37	4	158284178	158284178	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-0619-01	TCGA-12-0619-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264426.9:c.2634C>T	p.Ile878=	p.I878=	ENST00000264426	NM_001083619.1	878	atC/atT	0			1			T	I	uc003ipm.3	protein_coding		CCDS43274.1			2634/2652								p.I878I(1)	central_nervous_system(3)|ovary(1)	4	c.(2632-2634)ATC>ATT				glutamate receptor, ionotropic, AMPA 2 isoform 2	L-Glutamic Acid(DB00142)			ENSP00000264426		15/16									COSM42892,COSM1052624	15/16	.		ENST00000264426	Transcript			synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	ENSG00000120251	g.chr4:158284178C>T	4572			LOW								--	--	1																																		GRIA2_uc011cit.1_Silent_p.I831I|GRIA2_uc003ipl.3_Silent_p.I878I|GRIA2_uc003ipk.3_Silent_p.I831I|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_RNA	1,1				p.I878I	NM_001083619	NP_001077088			1,1	GRIA2_HUMAN	GRIA2	HGNC	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	D6RFM6_HUMAN,D6REK8_HUMAN,D6RDX5_HUMAN,D6RBV7_HUMAN,D6R9Z0_HUMAN		15	3093	+	all_hematologic(180;0.24)	Renal(120;0.0458)	UPI000012B7C2	878			Cytoplasmic (Potential).		SNV	GRIA2,synonymous_variant,p.=,ENST00000296526,NM_000826.3;GRIA2,synonymous_variant,p.=,ENST00000393815,NM_001083620.1;GRIA2,synonymous_variant,p.=,ENST00000449365,;GRIA2,synonymous_variant,p.=,ENST00000264426,NM_001083619.1;GRIA2,synonymous_variant,p.=,ENST00000507898,;GRIA2,synonymous_variant,p.=,ENST00000510854,;AC079233.1,downstream_gene_variant,,ENST00000578227,;GRIA2,non_coding_transcript_exon_variant,,ENST00000471736,;GRIA2,downstream_gene_variant,,ENST00000323661,;GRIA2,downstream_gene_variant,,ENST00000503980,;	uc003ipm.3	c.2634C>T	2913/3445	1	1			c.2634C>T						4	SNP	c.(2632-2634)ATC>ATT	16	16		p.I878I(1)	central_nervous_system(3)|ovary(1)	4	Broad	glutamate receptor, ionotropic, AMPA 2 isoform 2		L-Glutamic Acid(DB00142)	158284178		0.378	ENSG00000120251	6647	g.chr4:158284178C>T	synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity							186.242238	KEEP	41	42	-1	118	126	41	42	-1	201.746343	118	126	0.250909	1	0	0	0	0	0	0	1	0	--	--		0	T			GRIA2_uc011cit.1_Silent_p.I831I|GRIA2_uc003ipl.3_Silent_p.I878I|GRIA2_uc003ipk.3_Silent_p.I831I|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_RNA	120	GBM-12-0619-TP	p.I878I	C	TATATGGCATCGAAAGTGTTA	NM_001083619	NP_001077088	158284178	P42262	GRIA2_HUMAN	0		COAD - Colon adenocarcinoma(41;0.0294)	15	3093	+	T	T	all_hematologic(180;0.24)	Renal(120;0.0458)	Silent	878			Cytoplasmic (Potential).			
GRIA3	2892	broad.mit.edu	GRCh37	X	122528885	122528885	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01	TCGA-06-0213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264357.5:c.817G>A	p.Val273Ile	p.V273I	ENST00000264357	NM_000828.4	273	Gtc/Atc	0			1			A	V/I	uc004etq.3	protein_coding					769/1989									ovary(3)|central_nervous_system(1)|pancreas(1)	5	c.(817-819)GTC>ATC			hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF151,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822	glutamate receptor, ionotrophic, AMPA 3 isoform	L-Glutamic Acid(DB00142)			ENSP00000446440		11-Jun									COSM3405902,COSM3405903,COSM3405901,COSM3405904	11-Jun	.		ENST00000541091	Transcript	1		glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	ENSG00000125675	g.chrX:122528885G>A	4573			MODERATE		1.585	low	getma.org/?cm=msa&ty=f&p=GRIA3_HUMAN&rb=46&re=389&var=V273I	getma.org/pdb.php?prot=GRIA3_HUMAN&from=46&to=389&var=V273I	getma.org/?cm=var&var=hg19,X,122528885,G,A&fts=all	V273I	--	--	1																																		GRIA3_uc004etr.3_Missense_Mutation_p.V273I|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.V257I	1,1,1,1			benign(0.045)	p.V273I	NM_007325	NP_015564		tolerated(0.07)	1,1,1,1		GRIA3	HGNC	P42263	GRIA3_HUMAN			B7Z4C0_HUMAN		7	1110	+			UPI0001915068	273			Extracellular (Potential).		SNV	GRIA3,missense_variant,p.Val273Ile,ENST00000264357,NM_000828.4;GRIA3,missense_variant,p.Val273Ile,ENST00000371256,NM_007325.4;GRIA3,missense_variant,p.Val273Ile,ENST00000542149,;GRIA3,missense_variant,p.Val273Ile,ENST00000371251,;GRIA3,missense_variant,p.Val257Ile,ENST00000541091,;	uc004etq.3	c.817G>A	796/2169	2	2			c.817G>A						23	SNP	c.(817-819)GTC>ATC	21	21			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Broad	glutamate receptor, ionotrophic, AMPA 3 isoform		L-Glutamic Acid(DB00142)	122528885		0.438	ENSG00000125675	6648	g.chrX:122528885G>A	glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			217			217	170.026276	KEEP	48	22	-1	83	85	48	22	-1	177.39184	83	85	0.305936	1	0	0	0	0	1	0	0	0	--	--		0	A			GRIA3_uc004etr.3_Missense_Mutation_p.V273I|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.V257I	49	GBM-06-0213-TP	p.V273I	G	TTTCCAGATTGTCAACAATGA	NM_007325	NP_015564	122528885	P42263	GRIA3_HUMAN	0			7	1110	+	A	A			Missense_Mutation	273			Extracellular (Potential).			
GRIA3	0	broad.mit.edu	GRCh37	X	122460032	122460032	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01	TCGA-15-0742-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000541091.1:c.616G>A	p.Glu206Lys	p.E206K	ENST00000541091		206	Gaa/Aaa	0			1			A	E/K	uc004etq.3	protein_coding					616/1989									ovary(3)|central_nervous_system(1)|pancreas(1)	5	c.(664-666)GAA>AAA			hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF151,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822	glutamate receptor, ionotrophic, AMPA 3 isoform	L-Glutamic Acid(DB00142)			ENSP00000446440		11-Apr	1.65E-05	0.000117							rs778052374,COSM1114250,COSM1114252,COSM1598753,COSM3405900	11-Apr	.		ENST00000541091	Transcript	1		glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	ENSG00000125675	g.chrX:122460032G>A	4573			MODERATE		2.005	medium	getma.org/?cm=msa&ty=f&p=GRIA3_HUMAN&rb=46&re=389&var=E222K	getma.org/pdb.php?prot=GRIA3_HUMAN&from=46&to=389&var=E222K	getma.org/?cm=var&var=hg19,X,122460032,G,A&fts=all	E222K	--	--	1																																		GRIA3_uc004etr.3_Missense_Mutation_p.E222K|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.E206K	0,1,1,1,1			probably_damaging(0.98)	p.E222K	NM_007325	NP_015564		tolerated(0.05)	0,1,1,1,1		GRIA3	HGNC	P42263	GRIA3_HUMAN			B7Z4C0_HUMAN		5	957	+			UPI0001915068	222			Extracellular (Potential).		SNV	GRIA3,missense_variant,p.Glu222Lys,ENST00000264357,NM_000828.4;GRIA3,missense_variant,p.Glu222Lys,ENST00000371256,NM_007325.4;GRIA3,missense_variant,p.Glu222Lys,ENST00000542149,;GRIA3,missense_variant,p.Glu222Lys,ENST00000371251,;GRIA3,missense_variant,p.Glu206Lys,ENST00000541091,;	uc004etq.3	c.664G>A	643/2169	1	1			c.664G>A						23	SNP	c.(664-666)GAA>AAA	56	56			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Broad	glutamate receptor, ionotrophic, AMPA 3 isoform		L-Glutamic Acid(DB00142)	122460032		0.423	ENSG00000125675	6648	g.chrX:122460032G>A	glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			217			217	318.697396	KEEP	59	44	-1	4	4	59	44	-1	333.270913	4	4	0.938776	1	0	0	0	0	1	0	0	0	--	--		0	A			GRIA3_uc004etr.3_Missense_Mutation_p.E222K|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.E206K	153	GBM-15-0742-TP	p.E222K	G	GATTGACTGCGAAGTCGAAAG	NM_007325	NP_015564	122460032	P42263	GRIA3_HUMAN	0			5	957	+	A	A			Missense_Mutation	222			Extracellular (Potential).			
GRIA3	0	broad.mit.edu	GRCh37	X	122538688	122538688	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01	TCGA-32-2495-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000541091.1:c.1375G>A	p.Val459Ile	p.V459I	ENST00000541091		459	Gtt/Att	0			1			A	V/I	uc004etq.3	protein_coding					1375/1989									ovary(3)|central_nervous_system(1)|pancreas(1)	5	c.(1423-1425)GTT>ATT			hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF151,Pfam_domain:PF10613,Gene3D:3.40.190.10,SMART_domains:SM00918,SMART_domains:SM00079,Superfamily_domains:SSF53850	glutamate receptor, ionotrophic, AMPA 3 isoform	L-Glutamic Acid(DB00142)			ENSP00000446440		11-Oct									COSM3405907,COSM3405908,COSM3405906,COSM3405909	11-Oct	.		ENST00000541091	Transcript	1		glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	ENSG00000125675	g.chrX:122538688G>A	4573			MODERATE		3.55	high	getma.org/?cm=msa&ty=f&p=GRIA3_HUMAN&rb=434&re=499&var=V475I	getma.org/pdb.php?prot=GRIA3_HUMAN&from=434&to=499&var=V475I	getma.org/?cm=var&var=hg19,X,122538688,G,A&fts=all	V475I	--	--	1																																		GRIA3_uc004etr.3_Missense_Mutation_p.V475I|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.V459I	1,1,1,1			possibly_damaging(0.729)	p.V475I	NM_007325	NP_015564		deleterious(0.02)	1,1,1,1		GRIA3	HGNC	P42263	GRIA3_HUMAN			B7Z4C0_HUMAN		11	1716	+			UPI0001915068	475			Extracellular (Potential).		SNV	GRIA3,missense_variant,p.Val475Ile,ENST00000264357,NM_000828.4;GRIA3,missense_variant,p.Val475Ile,ENST00000371256,NM_007325.4;GRIA3,missense_variant,p.Val475Ile,ENST00000542149,;GRIA3,missense_variant,p.Val475Ile,ENST00000371251,;GRIA3,missense_variant,p.Val459Ile,ENST00000541091,;	uc004etq.3	c.1423G>A	1402/2169	1	1			c.1423G>A						23	SNP	c.(1423-1425)GTT>ATT	53	53			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Broad	glutamate receptor, ionotrophic, AMPA 3 isoform		L-Glutamic Acid(DB00142)	122538688		0.418	ENSG00000125675	6648	g.chrX:122538688G>A	glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			217			217	782.505207	KEEP	134	144	-1	121	109	134	144	-1	783.450314	121	109	0.549327	1	0	0	0	0	1	0	0	0	--	--		0	A			GRIA3_uc004etr.3_Missense_Mutation_p.V475I|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.V459I	237	GBM-32-2495-TP	p.V475I	G	ATTGTCCATCGTTGGTGACGG	NM_007325	NP_015564	122538688	P42263	GRIA3_HUMAN	0			11	1716	+	A	A			Missense_Mutation	475			Extracellular (Potential).			
GRID1	2894		GRCh37	10	87628864	87628864	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000327946.7:c.854T>C	p.Phe285Ser	p.F285S	ENST00000327946	NM_017551.2	285	tTt/tCt	0																																																																																																																																																																																																																																												
GRID2	0	broad.mit.edu	GRCh37	4	94316790	94316790	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-12-0692-01	TCGA-12-0692-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282020.4:c.1278T>G	p.Asn426Lys	p.N426K	ENST00000282020	NM_001510.2	426	aaT/aaG	0			1			G	N/K	uc011cdt.1	protein_coding	YES	CCDS3637.1			1278/3024									ovary(3)|skin(2)|large_intestine(1)	6	c.(1276-1278)AAT>AAG			hmmpanther:PTHR18966:SF109,hmmpanther:PTHR18966,Gene3D:3.40.190.10,Superfamily_domains:SSF53822	glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)			ENSP00000282020		16-Sep									COSM3409623	16-Sep	.		ENST00000282020	Transcript	1		glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	ENSG00000152208	g.chr4:94316790T>G	4576			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=GRID2_HUMAN&rb=405&re=442&var=N426K	NA	getma.org/?cm=var&var=hg19,4,94316790,T,G&fts=all	N426K	--	--	1																																		GRID2_uc011cdu.1_Missense_Mutation_p.N331K	1	1		possibly_damaging(0.864)	p.N426K	NM_001510	NP_001501		deleterious(0.01)	1	GRID2_HUMAN	GRID2	HGNC	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	Q4W5S4_HUMAN,Q4W5L9_HUMAN,Q4W5F4_HUMAN,Q4W5B7_HUMAN,D6R976_HUMAN		9	1536	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	UPI00001AEA78	426			Extracellular (Potential).		SNV	GRID2,missense_variant,p.Asn426Lys,ENST00000282020,NM_001510.2;GRID2,missense_variant,p.Asn331Lys,ENST00000510992,NM_001286838.1;	uc011cdt.1	c.1278T>G	1536/5340	3	3			c.1278T>G						4	SNP	c.(1276-1278)AAT>AAG	1	1			ovary(3)|skin(2)|large_intestine(1)	6	Broad	glutamate receptor, ionotropic, delta 2		L-Glutamic Acid(DB00142)	94316790		0.433	ENSG00000152208	6651	g.chr4:94316790T>G	glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity							-0.247762	KEEP	3	3	-1	35	29	3	3	-1	11.157669	35	29	0.067797	1	0	0	0	0	1	0	0	0	--	--		0	G			GRID2_uc011cdu.1_Missense_Mutation_p.N331K	122	GBM-12-0692-TP	p.N426K	T	CAGGTCTGAATGGGTCACTGA	NM_001510	NP_001501	94316790	O43424	GRID2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	9	1536	+	G	G		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	Missense_Mutation	426			Extracellular (Potential).			
GRIK1	0	broad.mit.edu	GRCh37	21	30949385	30949385	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399907.1:c.2029G>C	p.Glu677Gln	p.E677Q	ENST00000399907	NM_000830.3	677	Gag/Cag	0			1			G	E/Q	uc002yno.1	protein_coding	YES	CCDS42913.1			2029/2757									large_intestine(1)|ovary(1)|skin(1)	3	c.(2029-2031)GAG>CAG			Prints_domain:PR00177,SMART_domains:SM00079,Gene3D:1.10.287.70,Pfam_domain:PF00060,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF36	glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)			ENSP00000382791		14/17									COSM1307705,COSM1307704,COSM3405337	14/17	.		ENST00000399907	Transcript			central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	ENSG00000171189	g.chr21:30949385C>G	4579			MODERATE		2.205	medium	getma.org/?cm=msa&ty=f&p=GRIK1_HUMAN&rb=575&re=846&var=E677Q	getma.org/pdb.php?prot=GRIK1_HUMAN&from=575&to=846&var=E677Q	getma.org/?cm=var&var=hg19,21,30949385,C,G&fts=all	E677Q	--	--	1																																		GRIK1_uc002ynn.2_Missense_Mutation_p.E662Q|GRIK1_uc011acs.1_Missense_Mutation_p.E677Q|GRIK1_uc011act.1_Missense_Mutation_p.E538Q	1,1,1	1		probably_damaging(0.998)	p.E677Q	NM_000830	NP_000821		deleterious(0)	1,1,1	GRIK1_HUMAN	GRIK1	HGNC	P39086	GRIK1_HUMAN			Q9UNN1_HUMAN,Q71UA3_HUMAN		14	2493	-			UPI000012B612	677			Extracellular (Potential).		SNV	GRIK1,missense_variant,p.Glu662Gln,ENST00000399914,;GRIK1,missense_variant,p.Glu677Gln,ENST00000399907,NM_000830.3;GRIK1,missense_variant,p.Glu662Gln,ENST00000399909,;GRIK1,missense_variant,p.Glu677Gln,ENST00000399913,;GRIK1,missense_variant,p.Glu677Gln,ENST00000327783,;GRIK1,missense_variant,p.Glu662Gln,ENST00000389125,NM_175611.2;GRIK1,missense_variant,p.Glu679Gln,ENST00000535441,;GRIK1,missense_variant,p.Glu679Gln,ENST00000309434,;GRIK1,missense_variant,p.Glu677Gln,ENST00000389124,;BACH1,intron_variant,,ENST00000422809,;BACH1,intron_variant,,ENST00000468059,;	uc002yno.1	c.2029G>C	2441/3472	4	4			c.2029G>C						21	SNP	c.(2029-2031)GAG>CAG	25	25			large_intestine(1)|ovary(1)|skin(1)	3	Broad	glutamate receptor, ionotropic, kainate 1		L-Glutamic Acid(DB00142)|Topiramate(DB00273)	30949385		0.448	ENSG00000171189	6652	g.chr21:30949385C>G	central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			608			608	292.842615	KEEP	40	47	-1	43	58	40	47	-1	292.967343	43	58	0.471264	1	0	0	0	0	1	0	0	0	--	--		0	G			GRIK1_uc002ynn.2_Missense_Mutation_p.E662Q|GRIK1_uc011acs.1_Missense_Mutation_p.E677Q|GRIK1_uc011act.1_Missense_Mutation_p.E538Q	159	GBM-19-1390-TP	p.E677Q	C	TCCATTCTCTCTACTGTCAAG	NM_000830	NP_000821	30949385	P39086	GRIK1_HUMAN	0			14	2493	-	G	G			Missense_Mutation	677			Extracellular (Potential).			
GRIK2	0	broad.mit.edu	GRCh37	6	102483322	102483322	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-12-3649-01	TCGA-12-3649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000421544.1:c.2192C>G	p.Ser731Cys	p.S731C	ENST00000421544	NM_021956.4	731	tCt/tGt	0			1			G	S/C	uc003pqp.3	protein_coding	YES	CCDS5048.1			2192/2727									ovary(2)|pancreas(1)|breast(1)|skin(1)	5	c.(2191-2193)TCT>TGT			Pfam_domain:PF00060,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF38,SMART_domains:SM00079,Superfamily_domains:SSF53850	glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)			ENSP00000397026		14/16									COSM3410512,COSM3410511,COSM3410510	14/16	.		ENST00000421544	Transcript	1		glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	ENSG00000164418	g.chr6:102483322C>G	4580			MODERATE		2.39	medium	getma.org/?cm=msa&ty=f&p=GRIK2_HUMAN&rb=560&re=831&var=S731C	getma.org/pdb.php?prot=GRIK2_HUMAN&from=560&to=831&var=S731C	getma.org/?cm=var&var=hg19,6,102483322,C,G&fts=all	S731C	--	--	1																																		GRIK2_uc003pqo.3_Missense_Mutation_p.S731C|GRIK2_uc010kcw.2_Missense_Mutation_p.S731C	1,1,1	1		possibly_damaging(0.906)	p.S731C	NM_021956	NP_068775		deleterious(0)	1,1,1	GRIK2_HUMAN	GRIK2	HGNC	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Q9BZ15_HUMAN,Q6P3V6_HUMAN,H7C2P5_HUMAN,F8WEZ8_HUMAN,D7RWZ8_HUMAN		14	2441	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	UPI000012B617	731			Extracellular (Potential).		SNV	GRIK2,missense_variant,p.Ser731Cys,ENST00000369138,NM_001166247.1;GRIK2,missense_variant,p.Ser731Cys,ENST00000413795,NM_175768.3;GRIK2,missense_variant,p.Ser731Cys,ENST00000421544,NM_021956.4;GRIK2,missense_variant,p.Ser682Cys,ENST00000369134,;GRIK2,missense_variant,p.Ser731Cys,ENST00000318991,;GRIK2,missense_variant,p.Ser655Cys,ENST00000369137,;GRIK2,non_coding_transcript_exon_variant,,ENST00000487161,;	uc003pqp.3	c.2192C>G	2682/4789	3	3			c.2192C>G						6	SNP	c.(2191-2193)TCT>TGT	16	16			ovary(2)|pancreas(1)|breast(1)|skin(1)	5	Broad	glutamate receptor, ionotropic, kainate 2		L-Glutamic Acid(DB00142)	102483322		0.443	ENSG00000164418	6653	g.chr6:102483322C>G	glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity							342.01592	KEEP	50	55	-1	100	99	50	55	-1	348.12419	100	99	0.342857	1	0	0	0	0	1	0	0	0	--	--		0	G			GRIK2_uc003pqo.3_Missense_Mutation_p.S731C|GRIK2_uc010kcw.2_Missense_Mutation_p.S731C	125	GBM-12-3649-TP	p.S731C	C	GTCCTCACCTCTGATTATGCT	NM_021956	NP_068775	102483322	Q13002	GRIK2_HUMAN	0		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	14	2441	+	G	G		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	Missense_Mutation	731			Extracellular (Potential).			
GRIK3	2899	broad.mit.edu	GRCh37	1	37307528	37307528	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs114307108	by1000genomes	TCGA-06-0644-01	TCGA-06-0644-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373091.3:c.1339G>A	p.Val447Ile	p.V447I	ENST00000373091	NM_000831.3	447	Gtc/Atc	0	T:0.0002	T:0.0008	1	T:0		T	V/I	uc001caz.2	protein_coding	YES	CCDS416.1			1339/2760									ovary(3)|skin(2)|large_intestine(1)|breast(1)	7	c.(1339-1341)GTC>ATC			Superfamily_domains:SSF53850,SMART_domains:SM00079,SMART_domains:SM00918,Pfam_domain:PF10613,Gene3D:3.40.190.10,hmmpanther:PTHR18966:SF174,hmmpanther:PTHR18966	glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)	T:0	T:0.0001	ENSP00000362183	T:0	16-Oct	9.06E-05	0.000865	8.64E-05			1.50E-05			rs114307108,COSM2081732,COSM3400723	16-Oct	common_variant		ENST00000373091	Transcript		T:0.0002	negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	ENSG00000163873	g.chr1:37307528C>T	4581			MODERATE		1.35	low	getma.org/?cm=msa&ty=f&p=GRIK3_HUMAN&rb=445&re=509&var=V447I	getma.org/pdb.php?prot=GRIK3_HUMAN&from=445&to=509&var=V447I	getma.org/?cm=var&var=hg19,1,37307528,C,T&fts=all	V447I	--	--	1																																		GRIK3_uc001cba.1_Missense_Mutation_p.V447I	0,1,1	1		probably_damaging(0.99)	p.V447I	NM_000831	NP_000822	T:0	deleterious(0.04)	0,1,1	GRIK3_HUMAN	GRIK3	HGNC	Q13003	GRIK3_HUMAN			Q96SC0_HUMAN		10	1474	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	UPI000013E311	447			Extracellular (Potential).		SNV	GRIK3,missense_variant,p.Val447Ile,ENST00000373091,NM_000831.3;GRIK3,missense_variant,p.Val447Ile,ENST00000373093,;	uc001caz.2	c.1339G>A	1356/9101	2	2			c.1339G>A						1	SNP	c.(1339-1341)GTC>ATC	29	29			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7	Broad	glutamate receptor, ionotropic, kainate 3		L-Glutamic Acid(DB00142)	37307528		0.577	ENSG00000163873	6654	g.chr1:37307528C>T	negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity							245.655728	KEEP	50	44	-1	84	97	50	44	-1	250.410449	84	97	0.352227	1	0	0	0	0	1	0	0	0	--	--		0	T			GRIK3_uc001cba.1_Missense_Mutation_p.V447I	58	GBM-06-0644-TP	p.V447I	C	CGAAACATGACGAAGGGCTCC	NM_000831	NP_000822	37307528	Q13003	GRIK3_HUMAN	0			10	1474	-	T	T		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	Missense_Mutation	447			Extracellular (Potential).			
GRIK3	0	broad.mit.edu	GRCh37	1	37285426	37285426	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-12-5299-01	TCGA-12-5299-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373091.3:c.1784A>G	p.His595Arg	p.H595R	ENST00000373091	NM_000831.3	595	cAc/cGc	0			1			C	H/R	uc001caz.2	protein_coding	YES	CCDS416.1			1784/2760									ovary(3)|skin(2)|large_intestine(1)|breast(1)	7	c.(1783-1785)CAC>CGC			SMART_domains:SM00079,Pfam_domain:PF00060,Gene3D:1.10.287.70,hmmpanther:PTHR18966:SF174,hmmpanther:PTHR18966	glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)			ENSP00000362183		16-Dec									COSM3400721,COSM3400722	16-Dec	.		ENST00000373091	Transcript			negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	ENSG00000163873	g.chr1:37285426T>C	4581			MODERATE		2.195	medium	getma.org/?cm=msa&ty=f&p=GRIK3_HUMAN&rb=562&re=832&var=H595R	getma.org/pdb.php?prot=GRIK3_HUMAN&from=562&to=832&var=H595R	getma.org/?cm=var&var=hg19,1,37285426,T,C&fts=all	H595R	--	--	1																																		GRIK3_uc001cba.1_Missense_Mutation_p.H595R	1,1	1		probably_damaging(0.978)	p.H595R	NM_000831	NP_000822		deleterious(0.01)	1,1	GRIK3_HUMAN	GRIK3	HGNC	Q13003	GRIK3_HUMAN			Q96SC0_HUMAN		12	1919	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	UPI000013E311	595			Cytoplasmic (Potential).		SNV	GRIK3,missense_variant,p.His595Arg,ENST00000373091,NM_000831.3;GRIK3,missense_variant,p.His595Arg,ENST00000373093,;	uc001caz.2	c.1784A>G	1801/9101	3	3			c.1784A>G						1	SNP	c.(1783-1785)CAC>CGC	62	62			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7	Broad	glutamate receptor, ionotropic, kainate 3		L-Glutamic Acid(DB00142)	37285426		0.562	ENSG00000163873	6654	g.chr1:37285426T>C	negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity							7.986176	KEEP	2	3	-1	7	13	2	3	-1	10.295019	7	13	0.173913	1	0	0	0	0	1	0	0	0	--	--		0	C			GRIK3_uc001cba.1_Missense_Mutation_p.H595R	130	GBM-12-5299-TP	p.H595R	T	GTTGCAGGGGTGAGCATCGTA	NM_000831	NP_000822	37285426	Q13003	GRIK3_HUMAN	0			12	1919	-	C	C		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	Missense_Mutation	595			Cytoplasmic (Potential).			
GRIK3	0	broad.mit.edu	GRCh37	1	37356541	37356541	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-5950-01	TCGA-19-5950-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373091.3:c.272G>C	p.Ser91Thr	p.S91T	ENST00000373091	NM_000831.3	91	aGc/aCc	0			1			G	S/T	uc001caz.2	protein_coding	YES	CCDS416.1			272/2760									ovary(3)|skin(2)|large_intestine(1)|breast(1)	7	c.(271-273)AGC>ACC			Superfamily_domains:SSF53822,Pfam_domain:PF01094,Gene3D:3.40.50.2300,hmmpanther:PTHR18966:SF174,hmmpanther:PTHR18966	glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)			ENSP00000362183		16-Feb									COSM2156577,COSM3400725	16-Feb	.		ENST00000373091	Transcript			negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	ENSG00000163873	g.chr1:37356541C>G	4581			MODERATE		2.67	medium	getma.org/?cm=msa&ty=f&p=GRIK3_HUMAN&rb=55&re=398&var=S91T	getma.org/pdb.php?prot=GRIK3_HUMAN&from=55&to=398&var=S91T	getma.org/?cm=var&var=hg19,1,37356541,C,G&fts=all	S91T	--	--	1																																		GRIK3_uc001cba.1_Missense_Mutation_p.S91T	1,1	1		probably_damaging(0.959)	p.S91T	NM_000831	NP_000822		deleterious(0.02)	1,1	GRIK3_HUMAN	GRIK3	HGNC	Q13003	GRIK3_HUMAN			Q96SC0_HUMAN		2	407	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	UPI000013E311	91			Extracellular (Potential).		SNV	GRIK3,missense_variant,p.Ser91Thr,ENST00000373091,NM_000831.3;GRIK3,missense_variant,p.Ser91Thr,ENST00000373093,;	uc001caz.2	c.272G>C	289/9101	4	4			c.272G>C						1	SNP	c.(271-273)AGC>ACC	23	23			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7	Broad	glutamate receptor, ionotropic, kainate 3		L-Glutamic Acid(DB00142)	37356541		0.527	ENSG00000163873	6654	g.chr1:37356541C>G	negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity							97.952514	KEEP	13	19	-1	43	46	13	19	-1	102.723232	43	46	0.283186	1	0	0	0	0	1	0	0	0	--	--		0	G			GRIK3_uc001cba.1_Missense_Mutation_p.S91T	170	GBM-19-5950-TP	p.S91T	C	CGCCTCGAAGCTGTCATGGAA	NM_000831	NP_000822	37356541	Q13003	GRIK3_HUMAN	0			2	407	-	G	G		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	Missense_Mutation	91			Extracellular (Potential).			
GRIK3	0	broad.mit.edu	GRCh37	1	37282846	37282846	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373091.3:c.1906C>T	p.Arg636Cys	p.R636C	ENST00000373091	NM_000831.3	636	Cgc/Tgc	0			1			A	R/C	uc001caz.2	protein_coding	YES	CCDS416.1			1906/2760									ovary(3)|skin(2)|large_intestine(1)|breast(1)	7	c.(1906-1908)CGC>TGC			SMART_domains:SM00079,Pfam_domain:PF00060,Gene3D:1.10.287.70,hmmpanther:PTHR18966:SF174,hmmpanther:PTHR18966	glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)			ENSP00000362183		13/16	4.12E-05					7.49E-05			rs751498132,COSM908948,COSM3400720	13/16	.		ENST00000373091	Transcript			negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	ENSG00000163873	g.chr1:37282846G>A	4581			MODERATE		3.64	high	getma.org/?cm=msa&ty=f&p=GRIK3_HUMAN&rb=562&re=832&var=R636C	getma.org/pdb.php?prot=GRIK3_HUMAN&from=562&to=832&var=R636C	getma.org/?cm=var&var=hg19,1,37282846,G,A&fts=all	R636C	--	--	1																																		GRIK3_uc001cba.1_Missense_Mutation_p.R636C	0,1,1	1		probably_damaging(1)	p.R636C	NM_000831	NP_000822		deleterious(0)	0,1,1	GRIK3_HUMAN	GRIK3	HGNC	Q13003	GRIK3_HUMAN			Q96SC0_HUMAN		13	2041	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	UPI000013E311	636			Cytoplasmic (Potential).		SNV	GRIK3,missense_variant,p.Arg636Cys,ENST00000373091,NM_000831.3;GRIK3,missense_variant,p.Arg636Cys,ENST00000373093,;	uc001caz.2	c.1906C>T	1923/9101	1	1			c.1906C>T						1	SNP	c.(1906-1908)CGC>TGC	64	64			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7	Broad	glutamate receptor, ionotropic, kainate 3		L-Glutamic Acid(DB00142)	37282846		0.547	ENSG00000163873	6654	g.chr1:37282846G>A	negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity							40.4023	KEEP	9	11	-1	33	49	9	11	-1	46.736098	33	49	0.214286	1	0	0	0	0	1	0	0	0	--	--		0	A			GRIK3_uc001cba.1_Missense_Mutation_p.R636C	235	GBM-32-2491-TP	p.R636C	G	CCAATGATGCGTGTGGACAGG	NM_000831	NP_000822	37282846	Q13003	GRIK3_HUMAN	0			13	2041	-	A	A		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	Missense_Mutation	636			Cytoplasmic (Potential).			
GRIK3	2899		GRCh37	1	37356675	37356675	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000373091.3:c.138C>T	p.Asp46=	p.D46=	ENST00000373091	NM_000831.3	46	gaC/gaT	0																																																																																																																																																																																																																																												
GRIK5	2901	broad.mit.edu	GRCh37	19	42558502	42558502	+	synonymous_variant	Silent	SNP	G	G	A	rs140981334	by1000genomes	TCGA-06-2567-01	TCGA-06-2567-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262895.3:c.1026C>T	p.His342=	p.H342=	ENST00000262895	NM_002088.4	342	caC/caT	0		A:0	1	A:0		A	H	uc002osj.1	protein_coding	YES	CCDS12595.1			1026/2943										0	c.(1024-1026)CAC>CAT			hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF34,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822	glutamate receptor KA2 precursor	L-Glutamic Acid(DB00142)	A:0.001		ENSP00000262895	A:0.001	19-Aug	0.000198			0.000116	0.000151	0.000331			rs140981334,COSM2153053,COSM2153054	19-Aug	.		ENST00000262895	Transcript		A:0.0004		cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	ENSG00000105737	g.chr19:42558502G>A	4583			LOW								--	--	1																																		GRIK5_uc010eib.1_Silent_p.H261H	0,1,1	1			p.H342H	NM_002088	NP_002079	A:0		0,1,1	GRIK5_HUMAN	GRIK5	HGNC	Q16478	GRIK5_HUMAN					8	1061	-		Prostate(69;0.059)	UPI000013D353	342			Extracellular (Potential).		SNV	GRIK5,synonymous_variant,p.=,ENST00000262895,NM_002088.4;GRIK5,synonymous_variant,p.=,ENST00000301218,;GRIK5,synonymous_variant,p.=,ENST00000593562,;GRIK5,3_prime_UTR_variant,,ENST00000594528,;	uc002osj.1	c.1026C>T	1026/3493	2	2			c.1026C>T						19	SNP	c.(1024-1026)CAC>CAT	48	48				0	Broad	glutamate receptor KA2 precursor		L-Glutamic Acid(DB00142)	42558502		0.652	ENSG00000105737	6656	g.chr19:42558502G>A		cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity							80.635173	KEEP	17	23	-1	42	46	17	23	-1	83.966007	42	46	0.306931	1	0	0	0	0	0	0	1	0	--	--		0	A			GRIK5_uc010eib.1_Silent_p.H261H	89	GBM-06-2567-TP	p.H342H	G	GGCTGGTCCCGTGGGGCCAAA	NM_002088	NP_002079	42558502	Q16478	GRIK5_HUMAN	0			8	1061	-	A	A		Prostate(69;0.059)	Silent	342			Extracellular (Potential).			
GRIN2A	2903	broad.mit.edu	GRCh37	16	9858210	9858210	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01	TCGA-06-0192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330684.3:c.3191C>T	p.Thr1064Met	p.T1064M	ENST00000330684	NM_001134407.1	1064	aCg/aTg	0			1			A	T/M	uc002czo.3	protein_coding		CCDS10539.1			3191/4395									skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45	c.(3190-3192)ACG>ATG			Pfam_domain:PF10565	N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)			ENSP00000332549		13/13	8.24E-06					1.50E-05			rs756930722,COSM2150675	13/13	.		ENST00000330684	Transcript	1		response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	ENSG00000183454	g.chr16:9858210G>A	4585			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=NMDE1_HUMAN&rb=839&re=1464&var=T1064M	NA	getma.org/?cm=var&var=hg19,16,9858210,G,A&fts=all	T1064M	--	--	1																																		GRIN2A_uc010uym.1_Missense_Mutation_p.T1064M|GRIN2A_uc010uyn.1_Missense_Mutation_p.T907M|GRIN2A_uc002czr.3_Missense_Mutation_p.T1064M	0,1			possibly_damaging(0.555)	p.T1064M	NM_001134407	NP_001127879		deleterious(0.01)	0,1	NMDE1_HUMAN	GRIN2A	HGNC	Q12879	NMDE1_HUMAN			Q547U9_HUMAN		13	3739	-			UPI000000D7AB	1064			Cytoplasmic (Potential).		SNV	GRIN2A,missense_variant,p.Thr1064Met,ENST00000396573,NM_000833.3;GRIN2A,missense_variant,p.Thr1064Met,ENST00000330684,NM_001134407.1;GRIN2A,missense_variant,p.Thr1064Met,ENST00000404927,NM_001134408.1;GRIN2A,missense_variant,p.Thr1064Met,ENST00000562109,;GRIN2A,missense_variant,p.Thr1064Met,ENST00000396575,;GRIN2A,missense_variant,p.Thr907Met,ENST00000535259,;GRIN2A,downstream_gene_variant,,ENST00000463531,;GRIN2A,upstream_gene_variant,,ENST00000461292,;	uc002czo.3	c.3191C>T	3739/5031	2	2			c.3191C>T						16	SNP	c.(3190-3192)ACG>ATG	32	32			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45	Broad	N-methyl-D-aspartate receptor subunit 2A isoform		Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	9858210		0.507	ENSG00000183454	6658	g.chr16:9858210G>A	response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding		p.T1064K(MEC1-Tumor)	324		p.T1064K(MEC1-Tumor)	324	207.169966	KEEP	59	31	-1	173	118	59	31	-1	228.503346	173	118	0.242938	1	0	0	0	0	1	0	0	0	--	--		0	A			GRIN2A_uc010uym.1_Missense_Mutation_p.T1064M|GRIN2A_uc010uyn.1_Missense_Mutation_p.T907M|GRIN2A_uc002czr.3_Missense_Mutation_p.T1064M	44	GBM-06-0192-TP	p.T1064M	G	CCGATTTGACGTTTCTGAAAT	NM_001134407	NP_001127879	9858210	Q12879	NMDE1_HUMAN	0			13	3739	-	A	A			Missense_Mutation	1064			Cytoplasmic (Potential).			
GRIN2A	2903	broad.mit.edu	GRCh37	16	10274212	10274212	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-1804-01	TCGA-06-1804-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330684.3:c.57C>T	p.Arg19=	p.R19=	ENST00000330684	NM_001134407.1	19	cgC/cgT	0			1			A	R	uc002czo.3	protein_coding		CCDS10539.1			57/4395									skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45	c.(55-57)CGC>CGT			Cleavage_site_(Signalp):SignalP-noTM	N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)			ENSP00000332549		13-Feb									COSM3402048	13-Feb	.		ENST00000330684	Transcript	1		response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	ENSG00000183454	g.chr16:10274212G>A	4585			LOW								--	--	1																																		GRIN2A_uc010uym.1_Silent_p.R19R|GRIN2A_uc002czr.3_Silent_p.R19R|GRIN2A_uc010buk.2_Silent_p.R19R	1				p.R19R	NM_001134407	NP_001127879			1	NMDE1_HUMAN	GRIN2A	HGNC	Q12879	NMDE1_HUMAN			Q547U9_HUMAN		2	605	-			UPI000000D7AB	19					SNV	GRIN2A,synonymous_variant,p.=,ENST00000396573,NM_000833.3;GRIN2A,synonymous_variant,p.=,ENST00000330684,NM_001134407.1;GRIN2A,synonymous_variant,p.=,ENST00000404927,NM_001134408.1;GRIN2A,synonymous_variant,p.=,ENST00000562109,;GRIN2A,synonymous_variant,p.=,ENST00000396575,;GRIN2A,non_coding_transcript_exon_variant,,ENST00000566665,;	uc002czo.3	c.57C>T	605/5031	2	2			c.57C>T						16	SNP	c.(55-57)CGC>CGT	26	26			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45	Broad	N-methyl-D-aspartate receptor subunit 2A isoform		Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	10274212		0.657	ENSG00000183454	6658	g.chr16:10274212G>A	response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			324			324	21.179865	KEEP	2	12	-1	23	43	2	12	-1	28.525988	23	43	0.169014	1	0	0	0	0	0	0	1	0	--	--		0	A			GRIN2A_uc010uym.1_Silent_p.R19R|GRIN2A_uc002czr.3_Silent_p.R19R|GRIN2A_uc010buk.2_Silent_p.R19R	79	GBM-06-1804-TP	p.R19R	G	GCGCCGGACCGCGCCAGACCA	NM_001134407	NP_001127879	10274212	Q12879	NMDE1_HUMAN	0			2	605	-	A	A			Silent	19						
GRIN2A	0	broad.mit.edu	GRCh37	16	9862916	9862916	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-6698-01	TCGA-06-6698-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330684.3:c.2387T>A	p.Leu796His	p.L796H	ENST00000330684	NM_001134407.1	796	cTc/cAc	0			1			T	L/H	uc002czo.3	protein_coding		CCDS10539.1			2387/4395									skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45	c.(2386-2388)CTC>CAC			Pfam_domain:PF00060,Pfam_domain:PF00497,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF107,SMART_domains:SM00079,Superfamily_domains:SSF53850	N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)			ENSP00000332549		13-Dec									COSM3402559	13-Dec	.		ENST00000330684	Transcript	1		response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	ENSG00000183454	g.chr16:9862916A>T	4585			MODERATE		2.31	medium	getma.org/?cm=msa&ty=f&p=NMDE1_HUMAN&rb=554&re=828&var=L796H	getma.org/pdb.php?prot=NMDE1_HUMAN&from=554&to=828&var=L796H	getma.org/?cm=var&var=hg19,16,9862916,A,T&fts=all	L796H	--	--	1																																		GRIN2A_uc010uym.1_Missense_Mutation_p.L796H|GRIN2A_uc010uyn.1_Missense_Mutation_p.L639H|GRIN2A_uc002czr.3_Missense_Mutation_p.L796H	1			probably_damaging(0.995)	p.L796H	NM_001134407	NP_001127879		deleterious(0)	1	NMDE1_HUMAN	GRIN2A	HGNC	Q12879	NMDE1_HUMAN			Q547U9_HUMAN		12	2935	-			UPI000000D7AB	796			Extracellular (Potential).		SNV	GRIN2A,missense_variant,p.Leu796His,ENST00000396573,NM_000833.3;GRIN2A,missense_variant,p.Leu796His,ENST00000330684,NM_001134407.1;GRIN2A,missense_variant,p.Leu796His,ENST00000404927,NM_001134408.1;GRIN2A,missense_variant,p.Leu796His,ENST00000562109,;GRIN2A,missense_variant,p.Leu796His,ENST00000396575,;GRIN2A,missense_variant,p.Leu639His,ENST00000535259,;GRIN2A,non_coding_transcript_exon_variant,,ENST00000463531,;	uc002czo.3	c.2387T>A	2935/5031	1	1			c.2387T>A						16	SNP	c.(2386-2388)CTC>CAC	2	2			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45	Broad	N-methyl-D-aspartate receptor subunit 2A isoform		Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	9862916		0.478	ENSG00000183454	6658	g.chr16:9862916A>T	response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			324			324	169.789935	KEEP	31	33	-1	29	13	31	33	-1	170.846414	29	13	0.615385	1	0	0	0	0	1	0	0	0	--	--		0	T			GRIN2A_uc010uym.1_Missense_Mutation_p.L796H|GRIN2A_uc010uyn.1_Missense_Mutation_p.L639H|GRIN2A_uc002czr.3_Missense_Mutation_p.L796H	112	GBM-06-6698-TP	p.L796H	A	GATCCCAGTGAGCCACAGGGT	NM_001134407	NP_001127879	9862916	Q12879	NMDE1_HUMAN	0			12	2935	-	T	T			Missense_Mutation	796			Extracellular (Potential).			
GRIN2A	0	broad.mit.edu	GRCh37	16	9858195	9858195	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01	TCGA-14-0790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330684.3:c.3206C>T	p.Thr1069Met	p.T1069M	ENST00000330684	NM_001134407.1	1069	aCg/aTg	0			1			A	T/M	uc002czo.3	protein_coding		CCDS10539.1			3206/4395									skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45	c.(3205-3207)ACG>ATG			Pfam_domain:PF10565	N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)			ENSP00000332549		13/13	8.24E-06							6.06E-05	rs777249842,COSM333162	13/13	.		ENST00000330684	Transcript	1		response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	ENSG00000183454	g.chr16:9858195G>A	4585			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=NMDE1_HUMAN&rb=839&re=1464&var=T1069M	NA	getma.org/?cm=var&var=hg19,16,9858195,G,A&fts=all	T1069M	--	--	1																																		GRIN2A_uc010uym.1_Missense_Mutation_p.T1069M|GRIN2A_uc010uyn.1_Missense_Mutation_p.T912M|GRIN2A_uc002czr.3_Missense_Mutation_p.T1069M	0,1			possibly_damaging(0.718)	p.T1069M	NM_001134407	NP_001127879		tolerated_low_confidence(0.07)	0,1	NMDE1_HUMAN	GRIN2A	HGNC	Q12879	NMDE1_HUMAN			Q547U9_HUMAN		13	3754	-			UPI000000D7AB	1069			Cytoplasmic (Potential).		SNV	GRIN2A,missense_variant,p.Thr1069Met,ENST00000396573,NM_000833.3;GRIN2A,missense_variant,p.Thr1069Met,ENST00000330684,NM_001134407.1;GRIN2A,missense_variant,p.Thr1069Met,ENST00000404927,NM_001134408.1;GRIN2A,missense_variant,p.Thr1069Met,ENST00000562109,;GRIN2A,missense_variant,p.Thr1069Met,ENST00000396575,;GRIN2A,missense_variant,p.Thr912Met,ENST00000535259,;GRIN2A,downstream_gene_variant,,ENST00000463531,;GRIN2A,upstream_gene_variant,,ENST00000461292,;	uc002czo.3	c.3206C>T	3754/5031	2	2			c.3206C>T						16	SNP	c.(3205-3207)ACG>ATG	41	41			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45	Broad	N-methyl-D-aspartate receptor subunit 2A isoform		Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	9858195		0.502	ENSG00000183454	6658	g.chr16:9858195G>A	response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			324			324	442.399793	KEEP	73	83	-1	93	98	73	83	-1	443.009602	93	98	0.45283	1	0	0	0	0	1	0	0	0	--	--		0	A			GRIN2A_uc010uym.1_Missense_Mutation_p.T1069M|GRIN2A_uc010uyn.1_Missense_Mutation_p.T912M|GRIN2A_uc002czr.3_Missense_Mutation_p.T1069M	137	GBM-14-0790-TP	p.T1069M	G	CCTGTGGCACGTGGCCCGATT	NM_001134407	NP_001127879	9858195	Q12879	NMDE1_HUMAN	0			13	3754	-	A	A			Missense_Mutation	1069			Cytoplasmic (Potential).			
GRIN2A	0	broad.mit.edu	GRCh37	16	9857448	9857448	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149745535		TCGA-27-2518-01	TCGA-27-2518-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330684.3:c.3953G>A	p.Arg1318Gln	p.R1318Q	ENST00000330684	NM_001134407.1	1318	cGg/cAg	0	T:0.0002		1			T	R/Q	uc002czo.3	protein_coding		CCDS10539.1			3953/4395								p.R1318W(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45	c.(3952-3954)CGG>CAG			Pfam_domain:PF10565	N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)		T:0	ENSP00000332549		13/13	2.47E-05	0.000193		0.000117					rs149745535,COSM3402558	13/13	.		ENST00000330684	Transcript	1		response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	ENSG00000183454	g.chr16:9857448C>T	4585			MODERATE		2.36	medium	getma.org/?cm=msa&ty=f&p=NMDE1_HUMAN&rb=839&re=1464&var=R1318Q	NA	getma.org/?cm=var&var=hg19,16,9857448,C,T&fts=all	R1318Q	--	--	1																																		GRIN2A_uc010uym.1_Missense_Mutation_p.R1318Q|GRIN2A_uc010uyn.1_Intron|GRIN2A_uc002czr.3_Intron	0,1			benign(0.058)	p.R1318Q	NM_001134407	NP_001127879		tolerated(0.06)	0,1	NMDE1_HUMAN	GRIN2A	HGNC	Q12879	NMDE1_HUMAN			Q547U9_HUMAN		13	4501	-			UPI000000D7AB	1318			Cytoplasmic (Potential).		SNV	GRIN2A,missense_variant,p.Arg1318Gln,ENST00000396573,NM_000833.3;GRIN2A,missense_variant,p.Arg1318Gln,ENST00000330684,NM_001134407.1;GRIN2A,missense_variant,p.Arg1318Gln,ENST00000396575,;GRIN2A,intron_variant,,ENST00000404927,NM_001134408.1;GRIN2A,intron_variant,,ENST00000562109,;GRIN2A,intron_variant,,ENST00000535259,;GRIN2A,intron_variant,,ENST00000461292,;GRIN2A,downstream_gene_variant,,ENST00000463531,;	uc002czo.3	c.3953G>A	4501/5031	1	1			c.3953G>A						16	SNP	c.(3952-3954)CGG>CAG	8	8		p.R1318W(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45	Broad	N-methyl-D-aspartate receptor subunit 2A isoform		Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	9857448		0.527	ENSG00000183454	6658	g.chr16:9857448C>T	response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			324			324	42.859263	KEEP	24	8	-1	143	117	24	8	-1	71.931646	143	117	0.129032	1	0	0	0	0	1	0	0	0	--	--		0	T			GRIN2A_uc010uym.1_Missense_Mutation_p.R1318Q|GRIN2A_uc010uyn.1_Intron|GRIN2A_uc002czr.3_Intron	198	GBM-27-2518-TP	p.R1318Q	C	CTCCAGAAGCCGTTCCCTGTC	NM_001134407	NP_001127879	9857448	Q12879	NMDE1_HUMAN	0			13	4501	-	T	T			Missense_Mutation	1318			Cytoplasmic (Potential).			
GRIN2A	0	broad.mit.edu	GRCh37	16	10273879	10273879	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-1747-01	TCGA-28-1747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330684.3:c.390C>T	p.Gly130=	p.G130=	ENST00000330684	NM_001134407.1	130	ggC/ggT	0			1			A	G	uc002czo.3	protein_coding		CCDS10539.1			390/4395									skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45	c.(388-390)GGC>GGT			Pfam_domain:PF01094,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF107,Superfamily_domains:SSF53822	N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)			ENSP00000332549		13-Feb									COSM3402047	13-Feb	.		ENST00000330684	Transcript	1		response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	ENSG00000183454	g.chr16:10273879G>A	4585			LOW								--	--	1																																		GRIN2A_uc010uym.1_Silent_p.G130G|GRIN2A_uc002czr.3_Silent_p.G130G|GRIN2A_uc010buk.2_Silent_p.G130G	1				p.G130G	NM_001134407	NP_001127879			1	NMDE1_HUMAN	GRIN2A	HGNC	Q12879	NMDE1_HUMAN			Q547U9_HUMAN		2	938	-			UPI000000D7AB	130			Extracellular (Potential).		SNV	GRIN2A,synonymous_variant,p.=,ENST00000396573,NM_000833.3;GRIN2A,synonymous_variant,p.=,ENST00000330684,NM_001134407.1;GRIN2A,synonymous_variant,p.=,ENST00000404927,NM_001134408.1;GRIN2A,synonymous_variant,p.=,ENST00000562109,;GRIN2A,synonymous_variant,p.=,ENST00000396575,;GRIN2A,non_coding_transcript_exon_variant,,ENST00000566665,;	uc002czo.3	c.390C>T	938/5031	1	1			c.390C>T						16	SNP	c.(388-390)GGC>GGT	61	61			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45	Broad	N-methyl-D-aspartate receptor subunit 2A isoform		Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	10273879		0.597	ENSG00000183454	6658	g.chr16:10273879G>A	response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			324			324	94.951707	KEEP	17	20	-1	36	38	17	20	-1	97.320313	36	38	0.336634	1	0	0	0	0	0	0	1	0	--	--		0	A			GRIN2A_uc010uym.1_Silent_p.G130G|GRIN2A_uc002czr.3_Silent_p.G130G|GRIN2A_uc010buk.2_Silent_p.G130G	206	GBM-28-1747-TP	p.G130G	G	TCATAGATGCGCCCCCATGAA	NM_001134407	NP_001127879	10273879	Q12879	NMDE1_HUMAN	0			2	938	-	A	A			Silent	130			Extracellular (Potential).			
GRIN2A	0	broad.mit.edu	GRCh37	16	9857047	9857047	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330684.3:c.4354C>T	p.Arg1452Cys	p.R1452C	ENST00000330684	NM_001134407.1	1452	Cgc/Tgc	0		A:0	1	A:0		A	R/C	uc002czo.3	protein_coding		CCDS10539.1			4354/4395									skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45	c.(4354-4356)CGC>TGC			Pfam_domain:PF10565	N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	A:0		ENSP00000332549	A:0	13/13	1.65E-05					1.50E-05		6.06E-05	rs568622613,COSM3402556	13/13	.		ENST00000330684	Transcript	1	A:0.0002	response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	ENSG00000183454	g.chr16:9857047G>A	4585			MODERATE		2.24	medium	getma.org/?cm=msa&ty=f&p=NMDE1_HUMAN&rb=839&re=1464&var=R1452C	NA	getma.org/?cm=var&var=hg19,16,9857047,G,A&fts=all	R1452C	--	--	1																																		GRIN2A_uc010uym.1_Missense_Mutation_p.R1452C|GRIN2A_uc010uyn.1_3'UTR|GRIN2A_uc002czr.3_3'UTR	0,1			probably_damaging(0.961)	p.R1452C	NM_001134407	NP_001127879	A:0.001	deleterious(0)	0,1	NMDE1_HUMAN	GRIN2A	HGNC	Q12879	NMDE1_HUMAN			Q547U9_HUMAN		13	4902	-			UPI000000D7AB	1452			Cytoplasmic (Potential).		SNV	GRIN2A,missense_variant,p.Arg1452Cys,ENST00000396573,NM_000833.3;GRIN2A,missense_variant,p.Arg1452Cys,ENST00000330684,NM_001134407.1;GRIN2A,missense_variant,p.Arg1452Cys,ENST00000396575,;GRIN2A,3_prime_UTR_variant,,ENST00000404927,NM_001134408.1;GRIN2A,3_prime_UTR_variant,,ENST00000562109,;GRIN2A,3_prime_UTR_variant,,ENST00000535259,;GRIN2A,non_coding_transcript_exon_variant,,ENST00000461292,;GRIN2A,downstream_gene_variant,,ENST00000463531,;	uc002czo.3	c.4354C>T	4902/5031	1	1			c.4354C>T						16	SNP	c.(4354-4356)CGC>TGC	59	59			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45	Broad	N-methyl-D-aspartate receptor subunit 2A isoform		Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	9857047		0.363	ENSG00000183454	6658	g.chr16:9857047G>A	response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			324			324	82.16972	KEEP	21	15	-1	52	62	21	15	-1	90.619818	52	62	0.242857	1	0	0	0	0	1	0	0	0	--	--		0	A			GRIN2A_uc010uym.1_Missense_Mutation_p.R1452C|GRIN2A_uc010uyn.1_3'UTR|GRIN2A_uc002czr.3_3'UTR	220	GBM-28-5213-TP	p.R1452C	G	TTGTACACGCGTCTATTGCTG	NM_001134407	NP_001127879	9857047	Q12879	NMDE1_HUMAN	0			13	4902	-	A	A			Missense_Mutation	1452			Cytoplasmic (Potential).			
GRIN2A	0	broad.mit.edu	GRCh37	16	9934645	9934645	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330684.3:c.1510C>T	p.Arg504Trp	p.R504W	ENST00000330684	NM_001134407.1	504	Cgg/Tgg	0			1			A	R/W	uc002czo.3	protein_coding		CCDS10539.1			1510/4395									skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45	c.(1510-1512)CGG>TGG			Gene3D:3.40.190.10,Pfam_domain:PF00497,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF107,SMART_domains:SM00079,Superfamily_domains:SSF53850	N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)			ENSP00000332549		13-Jul									COSM1208970	13-Jul	.		ENST00000330684	Transcript	1		response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	ENSG00000183454	g.chr16:9934645G>A	4585			MODERATE		2.735	medium	getma.org/?cm=msa&ty=f&p=NMDE1_HUMAN&rb=448&re=798&var=R504W	getma.org/pdb.php?prot=NMDE1_HUMAN&from=448&to=798&var=R504W	getma.org/?cm=var&var=hg19,16,9934645,G,A&fts=all	R504W	--	--	1																																		GRIN2A_uc010uym.1_Missense_Mutation_p.R504W|GRIN2A_uc010uyn.1_Missense_Mutation_p.R347W|GRIN2A_uc002czr.3_Missense_Mutation_p.R504W	1			probably_damaging(0.956)	p.R504W	NM_001134407	NP_001127879		deleterious(0)	1	NMDE1_HUMAN	GRIN2A	HGNC	Q12879	NMDE1_HUMAN			Q547U9_HUMAN		7	2058	-			UPI000000D7AB	504			Extracellular (Potential).		SNV	GRIN2A,missense_variant,p.Arg504Trp,ENST00000396573,NM_000833.3;GRIN2A,missense_variant,p.Arg504Trp,ENST00000330684,NM_001134407.1;GRIN2A,missense_variant,p.Arg504Trp,ENST00000404927,NM_001134408.1;GRIN2A,missense_variant,p.Arg504Trp,ENST00000562109,;GRIN2A,missense_variant,p.Arg504Trp,ENST00000396575,;GRIN2A,missense_variant,p.Arg347Trp,ENST00000535259,;	uc002czo.3	c.1510C>T	2058/5031	2	2			c.1510C>T						16	SNP	c.(1510-1512)CGG>TGG	25	25			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45	Broad	N-methyl-D-aspartate receptor subunit 2A isoform		Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	9934645		0.453	ENSG00000183454	6658	g.chr16:9934645G>A	response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			324			324	41.940424	KEEP	12	11	-1	29	42	12	11	-1	45.805198	29	42	0.25	1	0	0	0	0	1	0	0	0	--	--		0	A			GRIN2A_uc010uym.1_Missense_Mutation_p.R504W|GRIN2A_uc010uyn.1_Missense_Mutation_p.R347W|GRIN2A_uc002czr.3_Missense_Mutation_p.R504W	220	GBM-28-5213-TP	p.R504W	G	ATGACTGCCCGTTGATAGACC	NM_001134407	NP_001127879	9934645	Q12879	NMDE1_HUMAN	0			7	2058	-	A	A			Missense_Mutation	504			Extracellular (Potential).			
GRIN2A	0	broad.mit.edu	GRCh37	16	9943739	9943739	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330684.3:c.1202C>T	p.Pro401Leu	p.P401L	ENST00000330684	NM_001134407.1	401	cCg/cTg	0			1			A	P/L	uc002czo.3	protein_coding		CCDS10539.1			1202/4395									skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45	c.(1201-1203)CCG>CTG			Gene3D:3.40.190.10,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF107	N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)			ENSP00000332549		13-May									COSM3402561	13-May	.		ENST00000330684	Transcript	1		response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	ENSG00000183454	g.chr16:9943739G>A	4585			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=NMDE1_HUMAN&rb=312&re=447&var=P401L	NA	getma.org/?cm=var&var=hg19,16,9943739,G,A&fts=all	P401L	--	--	1																																		GRIN2A_uc010uym.1_Missense_Mutation_p.P401L|GRIN2A_uc010uyn.1_Missense_Mutation_p.P244L|GRIN2A_uc002czr.3_Missense_Mutation_p.P401L	1			benign(0.006)	p.P401L	NM_001134407	NP_001127879		tolerated(0.44)	1	NMDE1_HUMAN	GRIN2A	HGNC	Q12879	NMDE1_HUMAN			Q547U9_HUMAN		5	1750	-			UPI000000D7AB	401			Extracellular (Potential).		SNV	GRIN2A,missense_variant,p.Pro401Leu,ENST00000396573,NM_000833.3;GRIN2A,missense_variant,p.Pro401Leu,ENST00000330684,NM_001134407.1;GRIN2A,missense_variant,p.Pro401Leu,ENST00000404927,NM_001134408.1;GRIN2A,missense_variant,p.Pro401Leu,ENST00000562109,;GRIN2A,missense_variant,p.Pro401Leu,ENST00000396575,;GRIN2A,missense_variant,p.Pro244Leu,ENST00000535259,;GRIN2A,downstream_gene_variant,,ENST00000566683,;	uc002czo.3	c.1202C>T	1750/5031	2	2			c.1202C>T						16	SNP	c.(1201-1203)CCG>CTG	18	18			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45	Broad	N-methyl-D-aspartate receptor subunit 2A isoform		Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	9943739		0.587	ENSG00000183454	6658	g.chr16:9943739G>A	response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			324			324	139.117695	KEEP	23	25	-1	49	37	23	25	-1	141.453022	49	37	0.356589	1	0	0	0	0	1	0	0	0	--	--		0	A			GRIN2A_uc010uym.1_Missense_Mutation_p.P401L|GRIN2A_uc010uyn.1_Missense_Mutation_p.P244L|GRIN2A_uc002czr.3_Missense_Mutation_p.P401L	240	GBM-32-2632-TP	p.P401L	G	GTTGTCATCCGGCTCACAGTC	NM_001134407	NP_001127879	9943739	Q12879	NMDE1_HUMAN	0			5	1750	-	A	A			Missense_Mutation	401			Extracellular (Potential).			
GRIN2A	0	broad.mit.edu	GRCh37	16	9858638	9858638	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-76-6191-01	TCGA-76-6191-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330684.3:c.2763T>A	p.Ala921=	p.A921=	ENST00000330684	NM_001134407.1	921	gcT/gcA	0			1			T	A	uc002czo.3	protein_coding		CCDS10539.1			2763/4395									skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45	c.(2761-2763)GCT>GCA			Pfam_domain:PF10565,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF107	N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)			ENSP00000332549		13/13										13/13	.		ENST00000330684	Transcript	1		response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	ENSG00000183454	g.chr16:9858638A>T	4585			LOW								--	--	1																																		GRIN2A_uc010uym.1_Silent_p.A921A|GRIN2A_uc010uyn.1_Silent_p.A764A|GRIN2A_uc002czr.3_Silent_p.A921A					p.A921A	NM_001134407	NP_001127879				NMDE1_HUMAN	GRIN2A	HGNC	Q12879	NMDE1_HUMAN			Q547U9_HUMAN		13	3311	-			UPI000000D7AB	921			Cytoplasmic (Potential).		SNV	GRIN2A,synonymous_variant,p.=,ENST00000396573,NM_000833.3;GRIN2A,synonymous_variant,p.=,ENST00000330684,NM_001134407.1;GRIN2A,synonymous_variant,p.=,ENST00000404927,NM_001134408.1;GRIN2A,synonymous_variant,p.=,ENST00000562109,;GRIN2A,synonymous_variant,p.=,ENST00000396575,;GRIN2A,synonymous_variant,p.=,ENST00000535259,;GRIN2A,downstream_gene_variant,,ENST00000463531,;GRIN2A,upstream_gene_variant,,ENST00000461292,;	uc002czo.3	c.2763T>A	3311/5031	1	1			c.2763T>A						16	SNP	c.(2761-2763)GCT>GCA	9	9			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45	Broad	N-methyl-D-aspartate receptor subunit 2A isoform		Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	9858638		0.468	ENSG00000183454	6658	g.chr16:9858638A>T	response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			324			324	288.004903	KEEP	44	53	-1	68	79	44	53	-1	289.869653	68	79	0.402655	1	0	0	0	0	0	0	1	0	--	--		0	T			GRIN2A_uc010uym.1_Silent_p.A921A|GRIN2A_uc010uyn.1_Silent_p.A764A|GRIN2A_uc002czr.3_Silent_p.A921A	274	GBM-76-6191-TP	p.A921A	A	TGAAGTCAGCAGCTCTTTTGG	NM_001134407	NP_001127879	9858638	Q12879	NMDE1_HUMAN	0			13	3311	-	T	T			Silent	921			Cytoplasmic (Potential).			
GRIN2A	0	broad.mit.edu	GRCh37	16	9857538	9857538	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6282-01	TCGA-76-6282-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330684.3:c.3863G>A	p.Arg1288His	p.R1288H	ENST00000330684	NM_001134407.1	1288	cGt/cAt	0			1			T	R/H	uc002czo.3	protein_coding		CCDS10539.1			3863/4395									skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45	c.(3862-3864)CGT>CAT			Pfam_domain:PF10565	N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)			ENSP00000332549		13/13	8.24E-06					1.50E-05			rs778951185,COSM1380653	13/13	.		ENST00000330684	Transcript	1		response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	ENSG00000183454	g.chr16:9857538C>T	4585			MODERATE		2.585	medium	getma.org/?cm=msa&ty=f&p=NMDE1_HUMAN&rb=839&re=1464&var=R1288H	NA	getma.org/?cm=var&var=hg19,16,9857538,C,T&fts=all	R1288H	--	--	1																																		GRIN2A_uc010uym.1_Missense_Mutation_p.R1288H|GRIN2A_uc010uyn.1_Intron|GRIN2A_uc002czr.3_Intron	0,1			probably_damaging(1)	p.R1288H	NM_001134407	NP_001127879		deleterious(0)	0,1	NMDE1_HUMAN	GRIN2A	HGNC	Q12879	NMDE1_HUMAN			Q547U9_HUMAN		13	4411	-			UPI000000D7AB	1288			Cytoplasmic (Potential).		SNV	GRIN2A,missense_variant,p.Arg1288His,ENST00000396573,NM_000833.3;GRIN2A,missense_variant,p.Arg1288His,ENST00000330684,NM_001134407.1;GRIN2A,missense_variant,p.Arg1288His,ENST00000396575,;GRIN2A,intron_variant,,ENST00000404927,NM_001134408.1;GRIN2A,intron_variant,,ENST00000562109,;GRIN2A,intron_variant,,ENST00000535259,;GRIN2A,intron_variant,,ENST00000461292,;GRIN2A,downstream_gene_variant,,ENST00000463531,;	uc002czo.3	c.3863G>A	4411/5031	1	1			c.3863G>A						16	SNP	c.(3862-3864)CGT>CAT	1	1			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45	Broad	N-methyl-D-aspartate receptor subunit 2A isoform		Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	9857538		0.537	ENSG00000183454	6658	g.chr16:9857538C>T	response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			324			324	52.453492	KEEP	13	9	-1	32	46	13	9	-1	59.06209	32	46	0.226804	1	0	0	0	0	1	0	0	0	--	--		0	T			GRIN2A_uc010uym.1_Missense_Mutation_p.R1288H|GRIN2A_uc010uyn.1_Intron|GRIN2A_uc002czr.3_Intron	278	GBM-76-6282-TP	p.R1288H	C	GGAATGCTGACGGCTAATCCT	NM_001134407	NP_001127879	9857538	Q12879	NMDE1_HUMAN	0			13	4411	-	T	T			Missense_Mutation	1288			Cytoplasmic (Potential).			
GRIN2B	0	broad.mit.edu	GRCh37	12	13716218	13716218	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-19-5959-01	TCGA-19-5959-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000609686.1:c.3954C>G	p.Ala1318=	p.A1318=	ENST00000609686	NM_000834.3	1318	gcC/gcG	0			1			C	A	uc001rbt.2	protein_coding	YES	CCDS8662.1			3954/4455									central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12	c.(3952-3954)GCC>GCG			Pfam_domain:PF10565	N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)			ENSP00000477455		13/13									COSM3398563	13/13	.		ENST00000609686	Transcript	1		response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	ENSG00000273079	g.chr12:13716218G>C	4586			LOW								--	--	1																																			1	1			p.A1318A	NM_000834	NP_000825			1	NMDE2_HUMAN	GRIN2B	HGNC	Q13224	NMDE2_HUMAN			Q59HA9_HUMAN		13	4133	-			UPI000013026C	1318			Cytoplasmic (Potential).		SNV	GRIN2B,synonymous_variant,p.=,ENST00000609686,NM_000834.3;	uc001rbt.2	c.3954C>G	4164/27217	3	3			c.3954C>G						12	SNP	c.(3952-3954)GCC>GCG	55	55			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12	Broad	N-methyl-D-aspartate receptor subunit 2B		Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	13716218		0.587	ENSG00000273079	6659	g.chr12:13716218G>C	response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			371			371	93.824231	KEEP	12	22	-1	26	20	12	22	-1	94.035389	26	20	0.442857	1	0	0	0	0	0	0	1	0	--	--		0	C				177	GBM-19-5959-TP	p.A1318A	G	CGCTGCGCGGGGCCAGGGCGG	NM_000834	NP_000825	13716218	Q13224	NMDE2_HUMAN	0			13	4133	-	C	C			Silent	1318			Cytoplasmic (Potential).			
GRIN2B	0	broad.mit.edu	GRCh37	12	13716353	13716353	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-1831-01	TCGA-27-1831-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000609686.1:c.3819G>A	p.Thr1273=	p.T1273=	ENST00000609686	NM_000834.3	1273	acG/acA	0			1			T	T	uc001rbt.2	protein_coding	YES	CCDS8662.1			3819/4455									central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12	c.(3817-3819)ACG>ACA			Pfam_domain:PF10565	N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)			ENSP00000477455		13/13									COSM3398564	13/13	.		ENST00000609686	Transcript	1		response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	ENSG00000273079	g.chr12:13716353C>T	4586			LOW								--	--	1																																			1	1			p.T1273T	NM_000834	NP_000825			1	NMDE2_HUMAN	GRIN2B	HGNC	Q13224	NMDE2_HUMAN			Q59HA9_HUMAN		13	3998	-			UPI000013026C	1273			Cytoplasmic (Potential).		SNV	GRIN2B,synonymous_variant,p.=,ENST00000609686,NM_000834.3;	uc001rbt.2	c.3819G>A	4029/27217	1	1			c.3819G>A						12	SNP	c.(3817-3819)ACG>ACA	12	12			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12	Broad	N-methyl-D-aspartate receptor subunit 2B		Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	13716353		0.582	ENSG00000273079	6659	g.chr12:13716353C>T	response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			371			371	40.390477	KEEP	11	11	-1	33	26	11	11	-1	42.845807	33	26	0.280702	1	0	0	0	0	0	0	1	0	--	--		0	T				190	GBM-27-1831-TP	p.T1273T	C	AGGCGTTTGACGTCACCGCCA	NM_000834	NP_000825	13716353	Q13224	NMDE2_HUMAN	0			13	3998	-	T	T			Silent	1273			Cytoplasmic (Potential).			
GRIN2B	0	broad.mit.edu	GRCh37	12	13906747	13906747	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1991-01	TCGA-32-1991-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000609686.1:c.514G>A	p.Val172Ile	p.V172I	ENST00000609686	NM_000834.3	172	Gtc/Atc	0			1			T	V/I	uc001rbt.2	protein_coding	YES	CCDS8662.1			514/4455									central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12	c.(514-516)GTC>ATC			hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF16,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822	N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)			ENSP00000477455		13-Mar	8.24E-06							6.06E-05	rs201377003,COSM2153880	13-Mar	.		ENST00000609686	Transcript	1		response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	ENSG00000273079	g.chr12:13906747C>T	4586			MODERATE		1.195	low	getma.org/?cm=msa&ty=f&p=NMDE2_HUMAN&rb=66&re=319&var=V172I	getma.org/pdb.php?prot=NMDE2_HUMAN&from=66&to=319&var=V172I	getma.org/?cm=var&var=hg19,12,13906747,C,T&fts=all	V172I	--	--	1																																			0,1	1		probably_damaging(0.985)	p.V172I	NM_000834	NP_000825		tolerated(0.39)	0,1	NMDE2_HUMAN	GRIN2B	HGNC	Q13224	NMDE2_HUMAN			Q59HA9_HUMAN		3	693	-			UPI000013026C	172			Extracellular (Potential).		SNV	GRIN2B,missense_variant,p.Val172Ile,ENST00000609686,NM_000834.3;	uc001rbt.2	c.514G>A	724/27217	2	2			c.514G>A						12	SNP	c.(514-516)GTC>ATC	21	21			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12	Broad	N-methyl-D-aspartate receptor subunit 2B		Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	13906747		0.463	ENSG00000273079	6659	g.chr12:13906747C>T	response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			371			371	204.02991	KEEP	35	43	-1	83	94	35	43	-1	209.528452	83	94	0.331818	1	0	0	0	0	1	0	0	0	--	--		0	T				234	GBM-32-1991-TP	p.V172I	C	TAGGTGGTGACGATAGAAAAG	NM_000834	NP_000825	13906747	Q13224	NMDE2_HUMAN	0			3	693	-	T	T			Missense_Mutation	172			Extracellular (Potential).			
GRIN2B	2904		GRCh37	12	13720091	13720091	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000609686.1:c.2466C>G	p.Phe822Leu	p.F822L	ENST00000609686	NM_000834.3	822	ttC/ttG	0																																																																																																																																																																																																																																												
GRIN2C	0	broad.mit.edu	GRCh37	17	72845978	72845978	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01	TCGA-76-4935-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000293190.5:c.1586C>T	p.Thr529Met	p.T529M	ENST00000293190	NM_000835.4	529	aCg/aTg	0			1			A	T/M	uc002jlt.1	protein_coding	YES	CCDS32724.1			1586/3702									ovary(2)|breast(2)	4	c.(1585-1587)ACG>ATG			hmmpanther:PTHR18966:SF179,hmmpanther:PTHR18966,Gene3D:3.40.190.10,Pfam_domain:PF00497,SMART_domains:SM00079,Superfamily_domains:SSF53850	N-methyl-D-aspartate receptor subunit 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)			ENSP00000293190		13-Jul	4.94E-05	9.62E-05	8.64E-05		0.000151	1.50E-05		0.000121	rs769299994,COSM3403197,COSM3403196	13-Jul	.		ENST00000293190	Transcript			glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	ENSG00000161509	g.chr17:72845978G>A	4587			MODERATE		3.035	medium	getma.org/?cm=msa&ty=f&p=NMDE3_HUMAN&rb=449&re=796&var=T529M	getma.org/pdb.php?prot=NMDE3_HUMAN&from=449&to=796&var=T529M	getma.org/?cm=var&var=hg19,17,72845978,G,A&fts=all	T529M	--	--	1																																		GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.T529M	0,1,1	1		probably_damaging(0.998)	p.T529M	NM_000835	NP_000826		deleterious(0)	0,1,1	NMDE3_HUMAN	GRIN2C	HGNC	Q14957	NMDE3_HUMAN					7	1742	-	all_lung(278;0.172)|Lung NSC(278;0.207)		UPI00001AEBA4	529			Extracellular (Potential).		SNV	GRIN2C,missense_variant,p.Thr529Met,ENST00000293190,NM_000835.4;GRIN2C,missense_variant,p.Thr529Met,ENST00000347612,NM_001278553.1;GRIN2C,downstream_gene_variant,,ENST00000578159,;GRIN2C,non_coding_transcript_exon_variant,,ENST00000584176,;GRIN2C,downstream_gene_variant,,ENST00000584496,;	uc002jlt.1	c.1586C>T	1733/4261	1	1			c.1586C>T						17	SNP	c.(1585-1587)ACG>ATG	62	62			ovary(2)|breast(2)	4	Broad	N-methyl-D-aspartate receptor subunit 2C		Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	72845978		0.627	ENSG00000161509	6660	g.chr17:72845978G>A	glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity							-16.755646	KEEP	4	2	-1	69	60	4	2	-1	12.091729	69	60	0.045802	1	0	0	0	0	1	0	0	0	--	--		0	A			GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.T529M	273	GBM-76-4935-TP	p.T529M	G	ACTGATGCCCGTCTCCACAAA	NM_000835	NP_000826	72845978	Q14957	NMDE3_HUMAN	0			7	1742	-	A	A	all_lung(278;0.172)|Lung NSC(278;0.207)		Missense_Mutation	529			Extracellular (Potential).			
GRIN2D	2906	broad.mit.edu	GRCh37	19	48945047	48945047	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263269.3:c.2274C>T	p.Tyr758=	p.Y758=	ENST00000263269	NM_000836.2	758	taC/taT	0			1			T	Y	uc002pjc.3	protein_coding	YES	CCDS12719.1			2274/4011									ovary(3)|breast(3)	6	c.(2272-2274)TAC>TAT			hmmpanther:PTHR18966:SF105,hmmpanther:PTHR18966,Pfam_domain:PF00497,Pfam_domain:PF00060,Gene3D:3.40.190.10,SMART_domains:SM00079,Superfamily_domains:SSF53850	N-methyl-D-aspartate receptor subunit 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)			ENSP00000263269		13-Nov	5.77E-05			0.000349				0.000255	rs749410602,COSM3107348	13-Nov	.		ENST00000263269	Transcript				cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	ENSG00000105464	g.chr19:48945047C>T	4588			LOW								--	--	1																																		GRIN2D_uc010elx.2_Translation_Start_Site	0,1	1			p.Y758Y	NM_000836	NP_000827			0,1	NMDE4_HUMAN	GRIN2D	HGNC	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)			11	2362	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	UPI000013D3DA	758			Extracellular (Potential).		SNV	GRIN2D,synonymous_variant,p.=,ENST00000263269,NM_000836.2;GRWD1,upstream_gene_variant,,ENST00000253237,NM_031485.3;GRWD1,upstream_gene_variant,,ENST00000598711,;GRWD1,upstream_gene_variant,,ENST00000599949,;	uc002pjc.3	c.2274C>T	2362/5093	2	2			c.2274C>T						19	SNP	c.(2272-2274)TAC>TAT	21	21			ovary(3)|breast(3)	6	Broad	N-methyl-D-aspartate receptor subunit 2D		L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	48945047		0.622	ENSG00000105464	6661	g.chr19:48945047C>T		cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding							41.113276	KEEP	8	8	-1	24	17	8	8	-1	43.193867	24	17	0.288462	1	0	0	0	0	0	0	1	0	--	--		0	T			GRIN2D_uc010elx.2_Translation_Start_Site	102	GBM-06-5858-TP	p.Y758Y	C	CCTTCATCTACGATGCTGCAG	NM_000836	NP_000827	48945047	O15399	NMDE4_HUMAN	0		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	11	2362	+	T	T		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	Silent	758			Extracellular (Potential).			
GRIN2D	0	broad.mit.edu	GRCh37	19	48919313	48919313	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01	TCGA-14-1395-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263269.3:c.1636C>T	p.Arg546Cys	p.R546C	ENST00000263269	NM_000836.2	546	Cgc/Tgc	0			1			T	R/C	uc002pjc.3	protein_coding	YES	CCDS12719.1			1636/4011									ovary(3)|breast(3)	6	c.(1636-1638)CGC>TGC			hmmpanther:PTHR18966:SF105,hmmpanther:PTHR18966,Pfam_domain:PF00497,Gene3D:3.40.190.10,SMART_domains:SM00079,Superfamily_domains:SSF53850	N-methyl-D-aspartate receptor subunit 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)			ENSP00000263269		13-Jul									COSM3404426	13-Jul	.		ENST00000263269	Transcript				cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	ENSG00000105464	g.chr19:48919313C>T	4588			MODERATE		3.895	high	getma.org/?cm=msa&ty=f&p=NMDE4_HUMAN&rb=473&re=826&var=R546C	getma.org/pdb.php?prot=NMDE4_HUMAN&from=473&to=826&var=R546C	getma.org/?cm=var&var=hg19,19,48919313,C,T&fts=all	R546C	--	--	1																																			1	1		possibly_damaging(0.769)	p.R546C	NM_000836	NP_000827		deleterious(0)	1	NMDE4_HUMAN	GRIN2D	HGNC	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)			7	1724	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	UPI000013D3DA	546			Extracellular (Potential).		SNV	GRIN2D,missense_variant,p.Arg546Cys,ENST00000263269,NM_000836.2;	uc002pjc.3	c.1636C>T	1724/5093	2	2			c.1636C>T						19	SNP	c.(1636-1638)CGC>TGC	30	30			ovary(3)|breast(3)	6	Broad	N-methyl-D-aspartate receptor subunit 2D		L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	48919313		0.672	ENSG00000105464	6661	g.chr19:48919313C>T		cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding							139.958419	KEEP	31	21	-1	33	33	31	21	-1	140.243154	33	33	0.445455	1	0	0	0	0	1	0	0	0	--	--		0	T				144	GBM-14-1395-TP	p.R546C	C	CAACGAGGAGCGCTCCGAGAT	NM_000836	NP_000827	48919313	O15399	NMDE4_HUMAN	0		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	7	1724	+	T	T		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	Missense_Mutation	546			Extracellular (Potential).			
GRIN3A	116443	broad.mit.edu	GRCh37	9	104499635	104499635	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0744-01	TCGA-06-0744-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361820.3:c.627C>T	p.Leu209=	p.L209=	ENST00000361820	NM_133445.2	209	ctC/ctT	0			1			A	L	uc004bbp.1	protein_coding	YES	CCDS6758.1			627/3348									ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	c.(625-627)CTC>CTT			Superfamily_domains:SSF53822,Gene3D:3.40.50.2300,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF163	glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)			ENSP00000355155		9-Jan									COSM2151638	9-Jan	.		ENST00000361820	Transcript			response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	ENSG00000198785	g.chr9:104499635G>A	16767			LOW								--	--	1																																		GRIN3A_uc004bbq.1_Silent_p.L209L	1	1			p.L209L	NM_133445	NP_597702			1	NMD3A_HUMAN	GRIN3A	HGNC	Q8TCU5	NMD3A_HUMAN					1	1228	-		Acute lymphoblastic leukemia(62;0.0568)	UPI0000367661	209			Extracellular (Potential).		SNV	GRIN3A,synonymous_variant,p.=,ENST00000361820,NM_133445.2;	uc004bbp.1	c.627C>T	1228/7770	2	2			c.627C>T						9	SNP	c.(625-627)CTC>CTT	45	45			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	Broad	glutamate receptor, ionotropic,		Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	104499635		0.597	ENSG00000198785	6662	g.chr9:104499635G>A	response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			27			27	107.10091	KEEP	17	18	-1	6	5	17	18	-1	109.725608	6	5	0.761905	1	0	0	0	0	0	0	1	0	--	--		0	A			GRIN3A_uc004bbq.1_Silent_p.L209L	66	GBM-06-0744-TP	p.L209L	G	TGACCAAGTCGAGCTCCATCA	NM_133445	NP_597702	104499635	Q8TCU5	NMD3A_HUMAN	0			1	1228	-	A	A		Acute lymphoblastic leukemia(62;0.0568)	Silent	209			Extracellular (Potential).			
GRIN3A	0	broad.mit.edu	GRCh37	9	104432454	104432454	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-14-0813-01	TCGA-14-0813-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361820.3:c.2240A>C	p.Asn747Thr	p.N747T	ENST00000361820	NM_133445.2	747	aAc/aCc	0			1			G	N/T	uc004bbp.1	protein_coding	YES	CCDS6758.1			2240/3348									ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	c.(2239-2241)AAC>ACC			Prints_domain:PR00177,SMART_domains:SM00079,Gene3D:1.10.287.70,Pfam_domain:PF00060,Pfam_domain:PF00497,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF163	glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)			ENSP00000355155		9-Mar									COSM3413203	9-Mar	.		ENST00000361820	Transcript			response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	ENSG00000198785	g.chr9:104432454T>G	16767			MODERATE		2.19	medium	getma.org/?cm=msa&ty=f&p=NMD3A_HUMAN&rb=674&re=942&var=N747T	getma.org/pdb.php?prot=NMD3A_HUMAN&from=674&to=942&var=N747T	getma.org/?cm=var&var=hg19,9,104432454,T,G&fts=all	N747T	--	--	1																																		GRIN3A_uc004bbq.1_Missense_Mutation_p.N747T	1	1		probably_damaging(1)	p.N747T	NM_133445	NP_597702		deleterious(0.01)	1	NMD3A_HUMAN	GRIN3A	HGNC	Q8TCU5	NMD3A_HUMAN					3	2841	-		Acute lymphoblastic leukemia(62;0.0568)	UPI0000367661	747			Cytoplasmic (Potential).		SNV	GRIN3A,missense_variant,p.Asn747Thr,ENST00000361820,NM_133445.2;	uc004bbp.1	c.2240A>C	2841/7770	4	4			c.2240A>C						9	SNP	c.(2239-2241)AAC>ACC	17	17			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	Broad	glutamate receptor, ionotropic,		Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	104432454		0.433	ENSG00000198785	6662	g.chr9:104432454T>G	response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			27			27	-26.725022	KEEP	4	1	-1	72	73	4	1	-1	9.250036	72	73	0.027397	1	0	0	0	0	1	0	0	0	--	--		0	G			GRIN3A_uc004bbq.1_Missense_Mutation_p.N747T	138	GBM-14-0813-TP	p.N747T	T	GGCCCAAAGGTTCATTAGAAA	NM_133445	NP_597702	104432454	Q8TCU5	NMD3A_HUMAN	0			3	2841	-	G	G		Acute lymphoblastic leukemia(62;0.0568)	Missense_Mutation	747			Cytoplasmic (Potential).			
GRIN3B	116444	broad.mit.edu	GRCh37	19	1004870	1004870	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-02-2483-01	TCGA-02-2483-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000234389.3:c.1370A>G	p.Asp457Gly	p.D457G	ENST00000234389	NM_138690.1	457	gAc/gGc	0			1			G	D/G	uc002lqo.1	protein_coding	YES	CCDS32861.1			1370/3132										0	c.(1369-1371)GAC>GGC			hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF154	glutamate receptor, ionotropic,	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)			ENSP00000234389		9-Mar									COSM2149124	9-Mar	.		ENST00000234389	Transcript			ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	ENSG00000116032	g.chr19:1004870A>G	16768			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=NMD3B_HUMAN&rb=401&re=474&var=D457G	getma.org/pdb.php?prot=NMD3B_HUMAN&from=401&to=474&var=D457G	getma.org/?cm=var&var=hg19,19,1004870,A,G&fts=all	D457G	--	--	1																																			1	1		benign(0.02)	p.D457G	NM_138690	NP_619635		deleterious(0.04)	1	NMD3B_HUMAN	GRIN3B	HGNC	O60391	NMD3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)			3	1370	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	UPI000004064B	457			Extracellular (Potential).		SNV	GRIN3B,missense_variant,p.Asp457Gly,ENST00000234389,NM_138690.1;TMEM259,downstream_gene_variant,,ENST00000356663,NM_001033026.1;TMEM259,downstream_gene_variant,,ENST00000333175,NM_033420.3;TMEM259,downstream_gene_variant,,ENST00000593068,;AC004528.1,downstream_gene_variant,,ENST00000594393,;AC004528.4,upstream_gene_variant,,ENST00000588380,;GRIN3B,non_coding_transcript_exon_variant,,ENST00000588335,;TMEM259,downstream_gene_variant,,ENST00000592052,;TMEM259,downstream_gene_variant,,ENST00000592618,;	uc002lqo.1	c.1370A>G	1389/3281	4	4			c.1370A>G						19	SNP	c.(1369-1371)GAC>GGC	30	30				0	Broad	glutamate receptor, ionotropic,		Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	1004870		0.672	ENSG00000116032	6663	g.chr19:1004870A>G	ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity							77.791013	KEEP	15	25	-1	38	36	15	25	-1	80.811131	38	36	0.3125	1	0	0	0	0	1	0	0	0	--	--		0	G				6	GBM-02-2483-TP	p.D457G	A	GCCACCCTGGACGCACTGTTC	NM_138690	NP_619635	1004870	O60391	NMD3B_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1370	+	G	G		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	Missense_Mutation	457			Extracellular (Potential).			
GRIP1	23426	broad.mit.edu	GRCh37	12	66911726	66911726	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398016.3:c.533G>A	p.Arg178His	p.R178H	ENST00000398016	NM_021150.3	178	cGt/cAt	0	T:0.0003	T:0.0008	1	T:0		T	R/H	uc001stk.2	protein_coding					533/3387									ovary(2)	2	c.(532-534)CGT>CAT			PROSITE_profiles:PS50106,hmmpanther:PTHR10316:SF39,hmmpanther:PTHR10316,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156	glutamate receptor interacting protein 1		T:0	T:0	ENSP00000352780	T:0	25-Jun	3.31E-05	0.000204	0.000175						rs367635870,COSM2098354,COSM3399011	25-Jun	.		ENST00000359742	Transcript	1	T:0.0002	androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	ENSG00000155974	g.chr12:66911726C>T	18708			MODERATE		1.835	low	getma.org/?cm=msa&ty=f&p=GRIP1_HUMAN&rb=152&re=235&var=R178H	getma.org/pdb.php?prot=GRIP1_HUMAN&from=152&to=235&var=R178H	getma.org/?cm=var&var=hg19,12,66911726,C,T&fts=all	R178H	--	--	1																																		GRIP1_uc010sta.1_Missense_Mutation_p.R122H|GRIP1_uc001stl.1_Missense_Mutation_p.R122H|GRIP1_uc001stm.2_Missense_Mutation_p.R178H	0,1,1			probably_damaging(1)	p.R178H	NM_021150	NP_066973	T:0	deleterious(0.03)	0,1,1	GRIP1_HUMAN	GRIP1	HGNC	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	F5H5I0_HUMAN,F5H424_HUMAN		6	774	-			UPI00001D798A	178			PDZ 2.		SNV	GRIP1,missense_variant,p.Arg178His,ENST00000359742,;GRIP1,missense_variant,p.Arg178His,ENST00000286445,;GRIP1,missense_variant,p.Arg178His,ENST00000398016,NM_021150.3;GRIP1,missense_variant,p.Arg178His,ENST00000538211,NM_001178074.1;GRIP1,missense_variant,p.Arg122His,ENST00000540433,;GRIP1,missense_variant,p.Arg122His,ENST00000536215,;GRIP1,missense_variant,p.Arg49His,ENST00000540854,;GRIP1,missense_variant,p.Arg151His,ENST00000545666,;GRIP1,missense_variant,p.Arg122His,ENST00000542309,;GRIP1,upstream_gene_variant,,ENST00000538164,;GRIP1,upstream_gene_variant,,ENST00000543172,;GRIP1,downstream_gene_variant,,ENST00000539540,;	uc001stk.2	c.533G>A	774/5216	2	2			c.533G>A						12	SNP	c.(532-534)CGT>CAT	48	48			ovary(2)	2	Broad	glutamate receptor interacting protein 1			66911726		0.388	ENSG00000155974	6666	g.chr12:66911726C>T	androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity							36.397376	KEEP	6	14	-1	37	37	6	14	-1	43.265844	37	37	0.197531	1	0	0	0	0	1	0	0	0	--	--		0	T			GRIP1_uc010sta.1_Missense_Mutation_p.R122H|GRIP1_uc001stl.1_Missense_Mutation_p.R122H|GRIP1_uc001stm.2_Missense_Mutation_p.R178H	46	GBM-06-0209-TP	p.R178H	C	CACAACTGGACGAGATTTATT	NM_021150	NP_066973	66911726	Q9Y3R0	GRIP1_HUMAN	0	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	6	774	-	T	T			Missense_Mutation	178			PDZ 2.			
GRIP1	0	broad.mit.edu	GRCh37	12	66788078	66788078	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01	TCGA-06-6695-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359742.4:c.2039G>A	p.Gly680Glu	p.G680E	ENST00000359742		680	gGg/gAg	0			1			T	G/E	uc001stk.2	protein_coding					2039/3387									ovary(2)	2	c.(1882-1884)GGG>GAG			PROSITE_profiles:PS50106,hmmpanther:PTHR10316:SF39,hmmpanther:PTHR10316,Pfam_domain:PF00595,Gene3D:2.30.42.10,Superfamily_domains:SSF50156	glutamate receptor interacting protein 1				ENSP00000352780		17/25	8.28E-06					1.50E-05			rs778468744,COSM3399005,COSM3399006	17/25	.		ENST00000359742	Transcript	1		androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	ENSG00000155974	g.chr12:66788078C>T	18708			MODERATE		2.04	medium	getma.org/?cm=msa&ty=f&p=GRIP1_HUMAN&rb=673&re=752&var=G680E	getma.org/pdb.php?prot=GRIP1_HUMAN&from=673&to=752&var=G680E	getma.org/?cm=var&var=hg19,12,66788078,C,T&fts=all	G680E	--	--	1																																		GRIP1_uc010sta.1_Missense_Mutation_p.G572E|GRIP1_uc001stj.2_Missense_Mutation_p.G410E|GRIP1_uc001stl.1_Missense_Mutation_p.G520E|GRIP1_uc001stm.2_Missense_Mutation_p.G628E	0,1,1			probably_damaging(0.991)	p.G628E	NM_021150	NP_066973		deleterious(0)	0,1,1	GRIP1_HUMAN	GRIP1	HGNC	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	F5H5I0_HUMAN,F5H424_HUMAN		16	2124	-			UPI00001D798A	680			PDZ 6.		SNV	GRIP1,missense_variant,p.Gly680Glu,ENST00000359742,;GRIP1,missense_variant,p.Gly680Glu,ENST00000286445,;GRIP1,missense_variant,p.Gly628Glu,ENST00000398016,NM_021150.3;GRIP1,missense_variant,p.Gly628Glu,ENST00000538211,NM_001178074.1;GRIP1,missense_variant,p.Gly495Glu,ENST00000538164,;GRIP1,missense_variant,p.Gly572Glu,ENST00000540433,;GRIP1,missense_variant,p.Gly520Glu,ENST00000536215,;GRIP1,intron_variant,,ENST00000540854,;GRIP1,downstream_gene_variant,,ENST00000542021,;GRIP1,upstream_gene_variant,,ENST00000541299,;	uc001stk.2	c.1883G>A	2280/5216	1	1			c.1883G>A						12	SNP	c.(1882-1884)GGG>GAG	14	14			ovary(2)	2	Broad	glutamate receptor interacting protein 1			66788078		0.413	ENSG00000155974	6666	g.chr12:66788078C>T	androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity							108.762016	KEEP	11	25	-1	7	12	11	25	-1	109.847752	7	12	0.653846	1	0	0	0	0	1	0	0	0	--	--		0	T			GRIP1_uc010sta.1_Missense_Mutation_p.G572E|GRIP1_uc001stj.2_Missense_Mutation_p.G410E|GRIP1_uc001stl.1_Missense_Mutation_p.G520E|GRIP1_uc001stm.2_Missense_Mutation_p.G628E	110	GBM-06-6695-TP	p.G628E	C	AAGGGGCCCCCCGTAGCGTTT	NM_021150	NP_066973	66788078	Q9Y3R0	GRIP1_HUMAN	0	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	16	2124	-	T	T			Missense_Mutation	680			PDZ 6.			
GRIP1	0	broad.mit.edu	GRCh37	12	66786170	66786170	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2521-01	TCGA-27-2521-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359742.4:c.2382G>A	p.Met794Ile	p.M794I	ENST00000359742		794	atG/atA	0			1			T	M/I	uc001stk.2	protein_coding					2382/3387									ovary(2)	2	c.(2224-2226)ATG>ATA			hmmpanther:PTHR10316:SF39,hmmpanther:PTHR10316	glutamate receptor interacting protein 1				ENSP00000352780		19/25									COSM3399001,COSM3399002	19/25	.		ENST00000359742	Transcript	1		androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	ENSG00000155974	g.chr12:66786170C>T	18708			MODERATE		-1.32	neutral	getma.org/?cm=msa&ty=f&p=GRIP1_HUMAN&rb=753&re=952&var=M794I	NA	getma.org/?cm=var&var=hg19,12,66786170,C,T&fts=all	M794I	--	--	1																																		GRIP1_uc010sta.1_Missense_Mutation_p.M686I|GRIP1_uc001stj.2_Missense_Mutation_p.M524I|GRIP1_uc001stl.1_Missense_Mutation_p.M634I|GRIP1_uc001stm.2_Missense_Mutation_p.M742I	1,1			benign(0)	p.M742I	NM_021150	NP_066973		tolerated(0.74)	1,1	GRIP1_HUMAN	GRIP1	HGNC	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	F5H5I0_HUMAN,F5H424_HUMAN		18	2467	-			UPI00001D798A	794					SNV	GRIP1,missense_variant,p.Met794Ile,ENST00000359742,;GRIP1,missense_variant,p.Met794Ile,ENST00000286445,;GRIP1,missense_variant,p.Met742Ile,ENST00000398016,NM_021150.3;GRIP1,missense_variant,p.Met742Ile,ENST00000538211,NM_001178074.1;GRIP1,missense_variant,p.Met609Ile,ENST00000538164,;GRIP1,missense_variant,p.Met686Ile,ENST00000540433,;GRIP1,missense_variant,p.Met634Ile,ENST00000536215,;GRIP1,intron_variant,,ENST00000540854,;GRIP1,downstream_gene_variant,,ENST00000542021,;GRIP1,non_coding_transcript_exon_variant,,ENST00000541299,;	uc001stk.2	c.2226G>A	2623/5216	2	2			c.2226G>A						12	SNP	c.(2224-2226)ATG>ATA	17	17			ovary(2)	2	Broad	glutamate receptor interacting protein 1			66786170		0.537	ENSG00000155974	6666	g.chr12:66786170C>T	androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity							-34.990653	KEEP	7	6	-1	110	143	7	6	-1	19.005835	110	143	0.045082	1	0	0	0	0	1	0	0	0	--	--		0	T			GRIP1_uc010sta.1_Missense_Mutation_p.M686I|GRIP1_uc001stj.2_Missense_Mutation_p.M524I|GRIP1_uc001stl.1_Missense_Mutation_p.M634I|GRIP1_uc001stm.2_Missense_Mutation_p.M742I	200	GBM-27-2521-TP	p.M742I	C	TGGAGGGGTACATGTCGGAGA	NM_021150	NP_066973	66786170	Q9Y3R0	GRIP1_HUMAN	0	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	18	2467	-	T	T			Missense_Mutation	794						
GRIP1	23426		GRCh37	12	66786464	66786464	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000398016.3:c.2106G>C	p.Gln702His	p.Q702H	ENST00000398016	NM_021150.3	702	caG/caC	0																																																																																																																																																																																																																																												
GRIP2	80852	broad.mit.edu	GRCh37	3	14558595	14558595	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T			TCGA-06-2563-01	TCGA-06-2563-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273083.3:n.1348G>A		p.*450*	ENST00000273083				0			1			T		uc011avi.1	processed_transcript	YES													pancreas(1)	1	c.(1576-1578)CGA>CAA				glutamate receptor interacting protein 2						24-Nov									COSM3408313	24-Nov	.		ENST00000273083	Transcript			synaptic transmission	cytosol|plasma membrane	protein binding	ENSG00000144596	g.chr3:14558595C>T	23841			MODIFIER		1.735	low	getma.org/?cm=msa&ty=f&p=GRIP2_HUMAN&rb=330&re=455&var=R428Q	NA	getma.org/?cm=var&var=hg19,3,14558595,C,T&fts=all	R428Q	--	--	1																																		GRIP2_uc011avh.1_Missense_Mutation_p.R57Q	1	1			p.R526Q	NM_001080423	NP_001073892			1		GRIP2	HGNC	Q9C0E4	GRIP2_HUMAN					12	1577	-				428					SNV	GRIP2,non_coding_transcript_exon_variant,,ENST00000273083,;GRIP2,non_coding_transcript_exon_variant,,ENST00000443613,;GRIP2,non_coding_transcript_exon_variant,,ENST00000507975,;GRIP2,non_coding_transcript_exon_variant,,ENST00000383795,;GRIP2,upstream_gene_variant,,ENST00000430219,;GRIP2,downstream_gene_variant,,ENST00000422481,;GRIP2,downstream_gene_variant,,ENST00000413414,;	uc011avi.1	c.1577G>A	1348/7751	2	2			c.1577G>A						3	SNP	c.(1576-1578)CGA>CAA	25	25			pancreas(1)	1	Broad	glutamate receptor interacting protein 2			14558595		0.572	ENSG00000144596	6667	g.chr3:14558595C>T	synaptic transmission	cytosol|plasma membrane	protein binding							17.042976	KEEP	4	2	-1	8	6	4	2	-1	17.616537	8	6	0.315789	1	0	0	0	0	1	0	0	0	--	--		0	T			GRIP2_uc011avh.1_Missense_Mutation_p.R57Q	86	GBM-06-2563-TP	p.R526Q	C	TTCCCTTCTTCGCTGCCTCCT	NM_001080423	NP_001073892	14558595	Q9C0E4	GRIP2_HUMAN	0			12	1577	-	T	T			Missense_Mutation	428						
GRIP2	0	broad.mit.edu	GRCh37	3	14555293	14555293	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A			TCGA-06-6695-01	TCGA-06-6695-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273083.3:n.1584C>T		*528*	ENST00000273083				0			1			A		uc011avi.1	processed_transcript	YES													pancreas(1)	1	c.(1813-1815)CGT>TGT				glutamate receptor interacting protein 2						13/24									COSM3408312	13/24	.		ENST00000273083	Transcript			synaptic transmission	cytosol|plasma membrane	protein binding	ENSG00000144596	g.chr3:14555293G>A	23841			MODIFIER		2.74	medium	getma.org/?cm=msa&ty=f&p=GRIP2_HUMAN&rb=456&re=542&var=R507C	getma.org/pdb.php?prot=GRIP2_HUMAN&from=456&to=542&var=R507C	getma.org/?cm=var&var=hg19,3,14555293,G,A&fts=all	R507C	--	--	1																																		GRIP2_uc010heh.2_RNA|GRIP2_uc011avh.1_Missense_Mutation_p.R136C	1	1			p.R605C	NM_001080423	NP_001073892			1		GRIP2	HGNC	Q9C0E4	GRIP2_HUMAN					14	1813	-				507			PDZ 4.		SNV	GRIP2,non_coding_transcript_exon_variant,,ENST00000273083,;GRIP2,non_coding_transcript_exon_variant,,ENST00000443613,;GRIP2,non_coding_transcript_exon_variant,,ENST00000507975,;GRIP2,non_coding_transcript_exon_variant,,ENST00000383795,;GRIP2,upstream_gene_variant,,ENST00000430219,;	uc011avi.1	c.1813C>T	1584/7751	2	2			c.1813C>T						3	SNP	c.(1813-1815)CGT>TGT	25	25			pancreas(1)	1	Broad	glutamate receptor interacting protein 2			14555293		0.647	ENSG00000144596	6667	g.chr3:14555293G>A	synaptic transmission	cytosol|plasma membrane	protein binding							9.894635	KEEP	2	3	-1	1	11	2	3	-1	10.631479	1	11	0.266667	1	0	0	0	0	1	0	0	0	--	--		0	A			GRIP2_uc010heh.2_RNA|GRIP2_uc011avh.1_Missense_Mutation_p.R136C	110	GBM-06-6695-TP	p.R605C	G	GACAGGACACGGTCCCCCACC	NM_001080423	NP_001073892	14555293	Q9C0E4	GRIP2_HUMAN	0			14	1813	-	A	A			Missense_Mutation	507			PDZ 4.			
GRIP2	0	broad.mit.edu	GRCh37	3	14552933	14552933	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T			TCGA-19-5954-01	TCGA-19-5954-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273083.3:n.1840G>A		*614*	ENST00000273083				0			1			T		uc011avi.1	processed_transcript	YES													pancreas(1)	1	c.(2068-2070)AGC>AAC				glutamate receptor interacting protein 2						15/24									COSM3408311	15/24	.		ENST00000273083	Transcript			synaptic transmission	cytosol|plasma membrane	protein binding	ENSG00000144596	g.chr3:14552933C>T	23841			MODIFIER		3.81	high	getma.org/?cm=msa&ty=f&p=GRIP2_HUMAN&rb=557&re=638&var=S592N	getma.org/pdb.php?prot=GRIP2_HUMAN&from=557&to=638&var=S592N	getma.org/?cm=var&var=hg19,3,14552933,C,T&fts=all	S592N	--	--	1																																		GRIP2_uc010heh.2_RNA|GRIP2_uc011avh.1_Missense_Mutation_p.S221N	1	1			p.S690N	NM_001080423	NP_001073892			1		GRIP2	HGNC	Q9C0E4	GRIP2_HUMAN					16	2069	-				592			PDZ 5.		SNV	GRIP2,non_coding_transcript_exon_variant,,ENST00000273083,;GRIP2,non_coding_transcript_exon_variant,,ENST00000443613,;GRIP2,non_coding_transcript_exon_variant,,ENST00000430219,;GRIP2,non_coding_transcript_exon_variant,,ENST00000507975,;GRIP2,non_coding_transcript_exon_variant,,ENST00000383795,;	uc011avi.1	c.2069G>A	1840/7751	1	1			c.2069G>A						3	SNP	c.(2068-2070)AGC>AAC	1	1			pancreas(1)	1	Broad	glutamate receptor interacting protein 2			14552933		0.597	ENSG00000144596	6667	g.chr3:14552933C>T	synaptic transmission	cytosol|plasma membrane	protein binding							54.037658	KEEP	10	10	-1	19	22	10	10	-1	54.795428	19	22	0.367347	1	0	0	0	0	1	0	0	0	--	--		0	T			GRIP2_uc010heh.2_RNA|GRIP2_uc011avh.1_Missense_Mutation_p.S221N	174	GBM-19-5954-TP	p.S690N	C	GTGTGCCACGCTGCCTTTCTT	NM_001080423	NP_001073892	14552933	Q9C0E4	GRIP2_HUMAN	0			16	2069	-	T	T			Missense_Mutation	592			PDZ 5.			
GRIPAP1	56850	broad.mit.edu	GRCh37	X	48847434	48847434	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0650-01	TCGA-06-0650-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376441.1:c.546C>T	p.Thr182=	p.T182=	ENST00000376441	NM_020137.3	182	acC/acT	0			1			A	T	uc004dly.1	protein_coding					387/1878									breast(2)|kidney(1)	3	c.(544-546)ACC>ACT			hmmpanther:PTHR18978,hmmpanther:PTHR18978:SF1	GRIP1 associated protein 1 isoform 1				ENSP00000365606		20-Jun									COSM3406438,COSM3406437	20-Jun	.		ENST00000376423	Transcript				early endosome		ENSG00000068400	g.chrX:48847434G>A	18706			LOW								--	--	1																																		GRIPAP1_uc004dlz.2_Silent_p.T72T|GRIPAP1_uc004dma.2_Silent_p.T129T	1,1				p.T182T	NM_020137	NP_064522			1,1	GRAP1_HUMAN	GRIPAP1	HGNC	Q4V328	GRAP1_HUMAN					7	581	-			UPI000035AC77	182					SNV	GRIPAP1,synonymous_variant,p.=,ENST00000376423,NM_207672.1;GRIPAP1,synonymous_variant,p.=,ENST00000376441,NM_020137.3;GRIPAP1,synonymous_variant,p.=,ENST00000376425,;GRIPAP1,synonymous_variant,p.=,ENST00000376444,;GRIPAP1,non_coding_transcript_exon_variant,,ENST00000473581,;GRIPAP1,upstream_gene_variant,,ENST00000474512,;	uc004dly.1	c.546C>T	420/3255	1	1			c.546C>T						23	SNP	c.(544-546)ACC>ACT	55	55			breast(2)|kidney(1)	3	Broad	GRIP1 associated protein 1 isoform 1			48847434		0.607	ENSG00000068400	6668	g.chrX:48847434G>A		early endosome								13.60437	KEEP	6	7	-1	31	42	6	7	-1	23.658009	31	42	0.131579	1	0	0	0	0	0	0	1	0	--	--		0	A			GRIPAP1_uc004dlz.2_Silent_p.T72T|GRIPAP1_uc004dma.2_Silent_p.T129T	63	GBM-06-0650-TP	p.T182T	G	GGGCCAGGACGGTGGGGGCCG	NM_020137	NP_064522	48847434	Q4V328	GRAP1_HUMAN	0			7	581	-	A	A			Silent	182						
GRIPAP1	0	broad.mit.edu	GRCh37	X	48839756	48839756	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01	TCGA-41-5651-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376423.4:c.1210C>T	p.Arg404Trp	p.R404W	ENST00000376423	NM_207672.1	404	Cgg/Tgg	0			1			A	R/W	uc004dly.1	protein_coding					1210/1878									breast(2)|kidney(1)	3	c.(1369-1371)CGG>TGG			hmmpanther:PTHR18978,hmmpanther:PTHR18978:SF1	GRIP1 associated protein 1 isoform 1				ENSP00000365606		15/20	4.94E-05			0.000151	0.000221	2.08E-05			rs782302254,COSM3406436,COSM3406435,COSM3406434	15/20	.		ENST00000376423	Transcript				early endosome		ENSG00000068400	g.chrX:48839756G>A	18706			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=GRAP1_HUMAN&rb=331&re=589&var=R457W	NA	getma.org/?cm=var&var=hg19,X,48839756,G,A&fts=all	R457W	--	--	1																																		GRIPAP1_uc004dlz.2_Missense_Mutation_p.R347W|GRIPAP1_uc004dma.2_Missense_Mutation_p.R404W	0,1,1,1			probably_damaging(0.99)	p.R457W	NM_020137	NP_064522		deleterious(0)	0,1,1,1	GRAP1_HUMAN	GRIPAP1	HGNC	Q4V328	GRAP1_HUMAN					16	1404	-			UPI000035AC77	457			Potential.		SNV	GRIPAP1,missense_variant,p.Arg404Trp,ENST00000376423,NM_207672.1;GRIPAP1,missense_variant,p.Arg457Trp,ENST00000376441,NM_020137.3;GRIPAP1,missense_variant,p.Arg426Trp,ENST00000376425,;GRIPAP1,missense_variant,p.Arg412Trp,ENST00000376444,;GRIPAP1,non_coding_transcript_exon_variant,,ENST00000473581,;GRIPAP1,downstream_gene_variant,,ENST00000474512,;GRIPAP1,upstream_gene_variant,,ENST00000488361,;	uc004dly.1	c.1369C>T	1243/3255	2	2			c.1369C>T						23	SNP	c.(1369-1371)CGG>TGG	32	32			breast(2)|kidney(1)	3	Broad	GRIP1 associated protein 1 isoform 1			48839756		0.597	ENSG00000068400	6668	g.chrX:48839756G>A		early endosome								92.918816	KEEP	14	25	-1	47	74	14	25	-1	101.317242	47	74	0.25	1	0	0	0	0	1	0	0	0	--	--		0	A			GRIPAP1_uc004dlz.2_Missense_Mutation_p.R347W|GRIPAP1_uc004dma.2_Missense_Mutation_p.R404W	258	GBM-41-5651-TP	p.R457W	G	TTCTCATGCCGTAGACGAACT	NM_020137	NP_064522	48839756	Q4V328	GRAP1_HUMAN	0			16	1404	-	A	A			Missense_Mutation	457			Potential.			
GRIPAP1	56850	broad.mit.edu	GRCh37	X	48831638	48831638	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4929-01	TCGA-76-4929-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376441.1:c.2362C>T	p.Leu788Phe	p.L788F	ENST00000376441	NM_020137.3	788	Ctt/Ttt	0			1			A		uc004dly.1	protein_coding					-/1878									breast(2)|kidney(1)	3	c.(2362-2364)CTT>TTT	1681			GRIP1 associated protein 1 isoform 1				ENSP00000365606											COSM3406433,COSM3406432		.		ENST00000376423	Transcript				early endosome		ENSG00000068400	g.chrX:48831638G>A	18706			MODIFIER		2.39	medium	getma.org/?cm=msa&ty=f&p=GRAP1_HUMAN&rb=591&re=840&var=L788F	NA	getma.org/?cm=var&var=hg19,X,48831638,G,A&fts=all	L788F	--	--	1																																			1,1				p.L788F	NM_020137	NP_064522			1,1	GRAP1_HUMAN	GRIPAP1	HGNC	Q4V328	GRAP1_HUMAN					25	2397	-			UPI000035AC77	788			Potential.		SNV	GRIPAP1,missense_variant,p.Leu788Phe,ENST00000376441,NM_020137.3;GRIPAP1,missense_variant,p.Leu757Phe,ENST00000376425,;GRIPAP1,missense_variant,p.Leu743Phe,ENST00000376444,;KCND1,upstream_gene_variant,,ENST00000218176,NM_004979.4;GRIPAP1,downstream_gene_variant,,ENST00000376423,NM_207672.1;GRIPAP1,downstream_gene_variant,,ENST00000473581,;GRIPAP1,downstream_gene_variant,,ENST00000488361,;	uc004dly.1	c.2362C>T	-/3255	1	1			c.2362C>T						23	SNP	c.(2362-2364)CTT>TTT	50	50			breast(2)|kidney(1)	3	Broad	GRIP1 associated protein 1 isoform 1			48831638		0.592	ENSG00000068400	6668	g.chrX:48831638G>A		early endosome								64.180241	KEEP	15	9	-1	42	30	15	9	-1	68.718871	42	30	0.261364	1	0	0	0	0	1	0	0	0	--	--		0	A				269	GBM-76-4929-TP	p.L788F	G	ATCTCCCGAAGGTTCTCGTCG	NM_020137	NP_064522	48831638	Q4V328	GRAP1_HUMAN	0			25	2397	-	A	A			Missense_Mutation	788			Potential.			
GRM1	2911	broad.mit.edu	GRCh37	6	146720521	146720521	+	synonymous_variant	Silent	SNP	C	C	T	rs145874853	byFrequency	TCGA-06-0145-01	TCGA-06-0145-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361719.2:c.2346C>T	p.Asn782=	p.N782=	ENST00000361719		782	aaC/aaT	0	T:0.0007	T:0	1	T:0		T	N	uc010khw.1	protein_coding		CCDS5209.1			2346/3585									lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19	c.(2344-2346)AAC>AAT			PROSITE_profiles:PS50259,hmmpanther:PTHR24060:SF29,hmmpanther:PTHR24060,PROSITE_patterns:PS00981,Pfam_domain:PF00003,Prints_domain:PR00248,Prints_domain:PR00248	glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	T:0.001	T:0	ENSP00000282753	T:0	8-Jul	6.59E-05	0.000288		0.000231		4.50E-05			rs145874853	8-Jul	.		ENST00000282753	Transcript	1	T:0.0002	synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	ENSG00000152822	g.chr6:146720521C>T	4593			LOW								--	--	1																																		GRM1_uc010khv.1_Silent_p.N782N|GRM1_uc003qll.2_Silent_p.N782N|GRM1_uc011edz.1_Silent_p.N782N|GRM1_uc011eea.1_Silent_p.N782N					p.N782N	NM_000838	NP_000829	T:0			GRM1_HUMAN	GRM1	HGNC	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)			8	2816	+		Ovarian(120;0.0387)	UPI000013DCFD	782			Cytoplasmic (Potential).		SNV	GRM1,synonymous_variant,p.=,ENST00000392299,;GRM1,synonymous_variant,p.=,ENST00000361719,;GRM1,synonymous_variant,p.=,ENST00000492807,NM_001278066.1,NM_001278065.1;GRM1,synonymous_variant,p.=,ENST00000282753,NM_001278067.1,NM_001278064.1;GRM1,synonymous_variant,p.=,ENST00000355289,;GRM1,synonymous_variant,p.=,ENST00000507907,;	uc010khw.1	c.2346C>T	2581/6622	1	1			c.2346C>T						6	SNP	c.(2344-2346)AAC>AAT	13	13			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19	Broad	glutamate receptor, metabotropic 1 isoform alpha		Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	146720521		0.502	ENSG00000152822	6675	g.chr6:146720521C>T	synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity							36.603679	KEEP	10	18	-1	76	86	10	18	-1	58.885532	76	86	0.137143	1	0	0	0	0	0	0	1	0	--	--		0	T			GRM1_uc010khv.1_Silent_p.N782N|GRM1_uc003qll.2_Silent_p.N782N|GRM1_uc011edz.1_Silent_p.N782N|GRM1_uc011eea.1_Silent_p.N782N	23	GBM-06-0145-TP	p.N782N	C	CCAACTTCAACGAGGCCAAAT	NM_000838	NP_000829	146720521	Q13255	GRM1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	2816	+	T	T		Ovarian(120;0.0387)	Silent	782			Cytoplasmic (Potential).			
GRM1	2911	broad.mit.edu	GRCh37	6	146755247	146755247	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361719.2:c.2900G>A	p.Arg967His	p.R967H	ENST00000361719		967	cGc/cAc	0			1			A	R/H	uc010khw.1	protein_coding		CCDS5209.1			2900/3585								p.R967H(1)	lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19	c.(2899-2901)CGC>CAC				glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)			ENSP00000282753		8-Aug									COSM42917	8-Aug	.		ENST00000282753	Transcript	1		synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	ENSG00000152822	g.chr6:146755247G>A	4593			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=GRM1_HUMAN&rb=839&re=973&var=R967H	NA	getma.org/?cm=var&var=hg19,6,146755247,G,A&fts=all	R967H	--	--	1																																		GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	1			benign(0.002)	p.R967H	NM_000838	NP_000829		tolerated_low_confidence(0.32)	1	GRM1_HUMAN	GRM1	HGNC	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)			9	3370	+		Ovarian(120;0.0387)	UPI000013DCFD	967			Cytoplasmic (Potential).		SNV	GRM1,missense_variant,p.Arg967His,ENST00000361719,;GRM1,missense_variant,p.Arg967His,ENST00000282753,NM_001278067.1,NM_001278064.1;GRM1,3_prime_UTR_variant,,ENST00000392299,;GRM1,3_prime_UTR_variant,,ENST00000492807,NM_001278066.1,NM_001278065.1;GRM1,3_prime_UTR_variant,,ENST00000355289,;GRM1,3_prime_UTR_variant,,ENST00000507907,;	uc010khw.1	c.2900G>A	3135/6622	1	1			c.2900G>A						6	SNP	c.(2899-2901)CGC>CAC	63	63		p.R967H(1)	lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19	Broad	glutamate receptor, metabotropic 1 isoform alpha		Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	146755247		0.602	ENSG00000152822	6675	g.chr6:146755247G>A	synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity							171.836007	KEEP	44	41	-1	63	69	44	41	-1	174.295798	63	69	0.369697	1	0	0	0	0	1	0	0	0	--	--		0	A			GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	23	GBM-06-0145-TP	p.R967H	G	CAGCCGATTCGCTTTAGCCCG	NM_000838	NP_000829	146755247	Q13255	GRM1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3370	+	A	A		Ovarian(120;0.0387)	Missense_Mutation	967			Cytoplasmic (Potential).			
GRM1	2911	broad.mit.edu	GRCh37	6	146350618	146350618	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T			TCGA-06-0192-01	TCGA-06-0192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361719.2:c.-36C>T		p.*12*	ENST00000361719				0			1			T		uc010khw.1	protein_coding		CCDS5209.1			-/3585									lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19	c.(-37--33)AACGC>AATGC				glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)			ENSP00000282753		8-Jan										8-Jan	.		ENST00000282753	Transcript	1		synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	ENSG00000152822	g.chr6:146350618C>T	4593			MODIFIER								--	--	1																																		GRM1_uc010khu.1_Translation_Start_Site|GRM1_uc010khv.1_Translation_Start_Site|GRM1_uc003qll.2_Translation_Start_Site|GRM1_uc011edz.1_Translation_Start_Site|GRM1_uc011eea.1_Translation_Start_Site						NM_000838	NP_000829				GRM1_HUMAN	GRM1	HGNC	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)			2	435	+		Ovarian(120;0.0387)	UPI000013DCFD						SNV	GRM1,5_prime_UTR_variant,,ENST00000392299,;GRM1,5_prime_UTR_variant,,ENST00000361719,;GRM1,5_prime_UTR_variant,,ENST00000492807,NM_001278066.1,NM_001278065.1;GRM1,5_prime_UTR_variant,,ENST00000282753,NM_001278067.1,NM_001278064.1;GRM1,5_prime_UTR_variant,,ENST00000355289,;GRM1,upstream_gene_variant,,ENST00000507907,;GRM1,non_coding_transcript_exon_variant,,ENST00000502405,;GRM1,non_coding_transcript_exon_variant,,ENST00000507005,;	uc010khw.1	c.-35C>T	200/6622	1	1			c.-35C>T						6	SNP	c.(-37--33)AACGC>AATGC	4	4			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19	Broad	glutamate receptor, metabotropic 1 isoform alpha		Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	146350618		0.647	ENSG00000152822	6675	g.chr6:146350618C>T	synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity							55.106556	KEEP	25	29	-1	100	46	25	29	-1	63.970669	100	46	0.213675	1	0	0	0	0	0	0	0	0	--	--		0	T			GRM1_uc010khu.1_Translation_Start_Site|GRM1_uc010khv.1_Translation_Start_Site|GRM1_uc003qll.2_Translation_Start_Site|GRM1_uc011edz.1_Translation_Start_Site|GRM1_uc011eea.1_Translation_Start_Site	44	GBM-06-0192-TP		C	AGCGTGGGAACGCGGCTGGCA	NM_000838	NP_000829	146350618	Q13255	GRM1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	2	435	+	T	T		Ovarian(120;0.0387)	Translation_Start_Site							
GRM1	0	broad.mit.edu	GRCh37	6	146755476	146755476	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-14-0790-01	TCGA-14-0790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282753.1:c.3129C>A	p.Thr1043=	p.T1043=	ENST00000282753	NM_001278067.1	1043	acC/acA	0			1			A	T	uc010khw.1	protein_coding		CCDS5209.1			3129/3585									lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19	c.(3127-3129)ACC>ACA				glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)			ENSP00000282753		8-Aug									COSM3410648	8-Aug	.		ENST00000282753	Transcript	1		synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	ENSG00000152822	g.chr6:146755476C>A	4593			LOW								--	--	1																																		GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	1				p.T1043T	NM_000838	NP_000829			1	GRM1_HUMAN	GRM1	HGNC	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)			9	3599	+		Ovarian(120;0.0387)	UPI000013DCFD	1043			Cytoplasmic (Potential).		SNV	GRM1,synonymous_variant,p.=,ENST00000361719,;GRM1,synonymous_variant,p.=,ENST00000282753,NM_001278067.1,NM_001278064.1;GRM1,3_prime_UTR_variant,,ENST00000392299,;GRM1,3_prime_UTR_variant,,ENST00000492807,NM_001278066.1,NM_001278065.1;GRM1,3_prime_UTR_variant,,ENST00000355289,;GRM1,3_prime_UTR_variant,,ENST00000507907,;	uc010khw.1	c.3129C>A	3364/6622	1	1			c.3129C>A						6	SNP	c.(3127-3129)ACC>ACA	50	50			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19	Broad	glutamate receptor, metabotropic 1 isoform alpha		Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	146755476		0.672	ENSG00000152822	6675	g.chr6:146755476C>A	synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity							146.943662	KEEP	19	30	0.612244898	26	41	19	30	0.612244898	147.457806	26	41	0.425926	1	0	0	0	0	0	0	1	0	--	--		0	A			GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	137	GBM-14-0790-TP	p.T1043T	C	ACTTCAGTACCGCGATCCCGG	NM_000838	NP_000829	146755476	Q13255	GRM1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3599	+	A	A		Ovarian(120;0.0387)	Silent	1043			Cytoplasmic (Potential).			
GRM1	0	broad.mit.edu	GRCh37	6	146720758	146720758	+	synonymous_variant	Silent	SNP	C	C	T	rs148042148		TCGA-14-0817-01	TCGA-14-0817-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282753.1:c.2583C>T	p.Gly861=	p.G861=	ENST00000282753	NM_001278067.1	861	ggC/ggT	0	T:0.0002		1			T	G	uc010khw.1	protein_coding		CCDS5209.1			2583/3585									lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19	c.(2581-2583)GGC>GGT			hmmpanther:PTHR24060:SF29,hmmpanther:PTHR24060	glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)		T:0	ENSP00000282753		8-Jul	8.24E-06							6.11E-05	rs148042148,COSM2154795,COSM2154796	8-Jul	.		ENST00000282753	Transcript	1		synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	ENSG00000152822	g.chr6:146720758C>T	4593			LOW								--	--	1																																		GRM1_uc010khv.1_Silent_p.G861G|GRM1_uc003qll.2_Silent_p.G861G|GRM1_uc011edz.1_Silent_p.G861G|GRM1_uc011eea.1_Silent_p.G861G	0,1,1				p.G861G	NM_000838	NP_000829			0,1,1	GRM1_HUMAN	GRM1	HGNC	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)			8	3053	+		Ovarian(120;0.0387)	UPI000013DCFD	861			Cytoplasmic (Potential).		SNV	GRM1,synonymous_variant,p.=,ENST00000392299,;GRM1,synonymous_variant,p.=,ENST00000361719,;GRM1,synonymous_variant,p.=,ENST00000492807,NM_001278066.1,NM_001278065.1;GRM1,synonymous_variant,p.=,ENST00000282753,NM_001278067.1,NM_001278064.1;GRM1,synonymous_variant,p.=,ENST00000355289,;GRM1,synonymous_variant,p.=,ENST00000507907,;	uc010khw.1	c.2583C>T	2818/6622	1	1			c.2583C>T						6	SNP	c.(2581-2583)GGC>GGT	4	4			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19	Broad	glutamate receptor, metabotropic 1 isoform alpha		Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	146720758		0.517	ENSG00000152822	6675	g.chr6:146720758C>T	synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity							14.503931	KEEP	4	4	-1	15	15	4	4	-1	17.639701	15	15	0.194444	1	0	0	0	0	0	0	1	0	--	--		0	T			GRM1_uc010khv.1_Silent_p.G861G|GRM1_uc003qll.2_Silent_p.G861G|GRM1_uc011edz.1_Silent_p.G861G|GRM1_uc011eea.1_Silent_p.G861G	139	GBM-14-0817-TP	p.G861G	C	TGCATGTTGGCGATGGCAAGC	NM_000838	NP_000829	146720758	Q13255	GRM1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	3053	+	T	T		Ovarian(120;0.0387)	Silent	861			Cytoplasmic (Potential).			
GRM1	0	broad.mit.edu	GRCh37	6	146708084	146708084	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-32-4210-01	TCGA-32-4210-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282753.1:c.1661A>T	p.Glu554Val	p.E554V	ENST00000282753	NM_001278067.1	554	gAa/gTa	0			1			T	E/V	uc010khw.1	protein_coding		CCDS5209.1			1661/3585									lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19	c.(1660-1662)GAA>GTA			hmmpanther:PTHR24060:SF29,hmmpanther:PTHR24060,PROSITE_patterns:PS00980,Pfam_domain:PF07562	glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)			ENSP00000282753		8-Jun									COSM3410646,COSM3410647	8-Jun	.		ENST00000282753	Transcript	1		synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	ENSG00000152822	g.chr6:146708084A>T	4593			MODERATE		3.785	high	getma.org/?cm=msa&ty=f&p=GRM1_HUMAN&rb=520&re=571&var=E554V	getma.org/pdb.php?prot=GRM1_HUMAN&from=520&to=571&var=E554V	getma.org/?cm=var&var=hg19,6,146708084,A,T&fts=all	E554V	--	--	1																																		GRM1_uc010khv.1_Missense_Mutation_p.E554V|GRM1_uc003qll.2_Missense_Mutation_p.E554V|GRM1_uc011edz.1_Missense_Mutation_p.E554V|GRM1_uc011eea.1_Missense_Mutation_p.E554V	1,1			probably_damaging(0.999)	p.E554V	NM_000838	NP_000829		deleterious(0)	1,1	GRM1_HUMAN	GRM1	HGNC	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)			7	2131	+		Ovarian(120;0.0387)	UPI000013DCFD	554			Extracellular (Potential).		SNV	GRM1,missense_variant,p.Glu554Val,ENST00000392299,;GRM1,missense_variant,p.Glu554Val,ENST00000361719,;GRM1,missense_variant,p.Glu554Val,ENST00000492807,NM_001278066.1,NM_001278065.1;GRM1,missense_variant,p.Glu554Val,ENST00000282753,NM_001278067.1,NM_001278064.1;GRM1,missense_variant,p.Glu554Val,ENST00000355289,;GRM1,missense_variant,p.Glu554Val,ENST00000507907,;	uc010khw.1	c.1661A>T	1896/6622	2	2			c.1661A>T						6	SNP	c.(1660-1662)GAA>GTA	41	41			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19	Broad	glutamate receptor, metabotropic 1 isoform alpha		Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	146708084		0.438	ENSG00000152822	6675	g.chr6:146708084A>T	synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity							61.064019	KEEP	16	18	-1	78	80	16	18	-1	77.381893	78	80	0.186441	1	0	0	0	0	1	0	0	0	--	--		0	T			GRM1_uc010khv.1_Missense_Mutation_p.E554V|GRM1_uc003qll.2_Missense_Mutation_p.E554V|GRM1_uc011edz.1_Missense_Mutation_p.E554V|GRM1_uc011eea.1_Missense_Mutation_p.E554V	245	GBM-32-4210-TP	p.E554V	A	AAAGAGAATGAATATGTGCAA	NM_000838	NP_000829	146708084	Q13255	GRM1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	7	2131	+	T	T		Ovarian(120;0.0387)	Missense_Mutation	554			Extracellular (Potential).			
GRM1	2911		GRCh37	6	146350671	146350672	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000361719.2:c.26dup	p.Ala11SerfsTer78	p.A11Sfs*78	ENST00000361719		6	-/T	0																																																																																																																																																																																																																																												
GRM2	0	broad.mit.edu	GRCh37	3	51746533	51746533	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5955-01	TCGA-19-5955-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395052.3:c.495C>T	p.Tyr165=	p.Y165=	ENST00000395052	NM_000839.3	165	taC/taT	0	T:0		1			T	Y	uc010hlv.2	protein_coding	YES	CCDS2834.1			495/2619									lung(1)	1	c.(493-495)TAC>TAT			hmmpanther:PTHR24060,PROSITE_patterns:PS00979,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822,Prints_domain:PR00248	glutamate receptor, metabotropic 2 isoform a	Acamprosate(DB00659)|Nicotine(DB00184)		T:0.0005	ENSP00000378492		6-Mar	0.000371		8.64E-05	0.000809	0.000605	0.000406		0.000364	rs200050063,COSM2156808	6-Mar	common_variant		ENST00000395052	Transcript			synaptic transmission	integral to plasma membrane		ENSG00000164082	g.chr3:51746533C>T	4594			LOW								--	--	1																																		GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	0,1	1			p.Y165Y	NM_000839	NP_000830			0,1	GRM2_HUMAN	GRM2	HGNC	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	C9JD41_HUMAN		3	734	+			UPI000013E346	165			Extracellular (Potential).		SNV	GRM2,synonymous_variant,p.=,ENST00000395052,NM_000839.3;GRM2,synonymous_variant,p.=,ENST00000442933,;GRM2,downstream_gene_variant,,ENST00000419928,;GRM2,non_coding_transcript_exon_variant,,ENST00000496661,;GRM2,non_coding_transcript_exon_variant,,ENST00000477330,;GRM2,intron_variant,,ENST00000475478,;GRM2,synonymous_variant,p.=,ENST00000296479,;GRM2,non_coding_transcript_exon_variant,,ENST00000464585,;	uc010hlv.2	c.495C>T	729/3151	2	2			c.495C>T						3	SNP	c.(493-495)TAC>TAT	45	45			lung(1)	1	Broad	glutamate receptor, metabotropic 2 isoform a		Acamprosate(DB00659)|Nicotine(DB00184)	51746533		0.532	ENSG00000164082	6676	g.chr3:51746533C>T	synaptic transmission	integral to plasma membrane								61.577906	KEEP	14	13	-1	35	65	14	13	-1	70.671449	35	65	0.217742	1	0	0	0	0	0	0	1	0	--	--		0	T			GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	175	GBM-19-5955-TP	p.Y165Y	C	AGATTAGCTACGCCTCTACCA	NM_000839	NP_000830	51746533	Q14416	GRM2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	734	+	T	T			Silent	165			Extracellular (Potential).			
GRM3	2913	broad.mit.edu	GRCh37	7	86415679	86415679	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01	TCGA-06-0168-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361669.2:c.571G>A	p.Val191Met	p.V191M	ENST00000361669	NM_000840.2	191	Gtg/Atg	0			1			A	V/M	uc003uid.2	protein_coding	YES	CCDS5600.1			571/2640									lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	c.(571-573)GTG>ATG			Gene3D:3.40.50.2300,Pfam_domain:PF01094,Prints_domain:PR00248,hmmpanther:PTHR24060,Superfamily_domains:SSF53822	glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)			ENSP00000355316		6-Mar									COSM2150250,COSM3412420	6-Mar	.		ENST00000361669	Transcript			synaptic transmission	integral to plasma membrane		ENSG00000198822	g.chr7:86415679G>A	4595			MODERATE		3.075	medium	getma.org/?cm=msa&ty=f&p=GRM3_HUMAN&rb=67&re=473&var=V191M	getma.org/pdb.php?prot=GRM3_HUMAN&from=67&to=473&var=V191M	getma.org/?cm=var&var=hg19,7,86415679,G,A&fts=all	V191M	--	--	1																																		GRM3_uc010lef.2_Missense_Mutation_p.V189M|GRM3_uc010leg.2_Missense_Mutation_p.V63M|GRM3_uc010leh.2_Intron	1,1	1		probably_damaging(1)	p.V191M	NM_000840	NP_000831		deleterious(0)	1,1	GRM3_HUMAN	GRM3	HGNC	Q14832	GRM3_HUMAN			C9JUH9_HUMAN,C9JIT1_HUMAN,A4D1D0_HUMAN		3	1670	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		UPI0000153EFC	191			Extracellular (Potential).		SNV	GRM3,missense_variant,p.Val191Met,ENST00000361669,NM_000840.2;GRM3,missense_variant,p.Val63Met,ENST00000536043,;GRM3,missense_variant,p.Val189Met,ENST00000394720,;GRM3,missense_variant,p.Val191Met,ENST00000439827,;GRM3,missense_variant,p.Val63Met,ENST00000454217,;GRM3,intron_variant,,ENST00000546348,;AC005009.2,non_coding_transcript_exon_variant,,ENST00000418031,;AC005009.2,intron_variant,,ENST00000452471,;	uc003uid.2	c.571G>A	1670/4268	1	1			c.571G>A						7	SNP	c.(571-573)GTG>ATG	64	64			lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Broad	glutamate receptor, metabotropic 3 precursor		Acamprosate(DB00659)|Nicotine(DB00184)	86415679		0.567	ENSG00000198822	6677	g.chr7:86415679G>A	synaptic transmission	integral to plasma membrane		GBM(52;969 1098 3139 52280)			GBM(52;969 1098 3139 52280)			158.577485	KEEP	31	42	-1	134	115	31	42	-1	178.649432	134	115	0.226027	1	0	0	0	0	1	0	0	0	--	--		0	A			GRM3_uc010lef.2_Missense_Mutation_p.V189M|GRM3_uc010leg.2_Missense_Mutation_p.V63M|GRM3_uc010leh.2_Intron	33	GBM-06-0168-TP	p.V191M	G	TGCCAGGACCGTGCCCCCCGA	NM_000840	NP_000831	86415679	Q14832	GRM3_HUMAN	0			3	1670	+	A	A	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		Missense_Mutation	191			Extracellular (Potential).			
GRM3	2913	broad.mit.edu	GRCh37	7	86468833	86468833	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01	TCGA-06-5414-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361669.2:c.2003G>A	p.Arg668His	p.R668H	ENST00000361669	NM_000840.2	668	cGc/cAc	0			1			A	R/H	uc003uid.2	protein_coding	YES	CCDS5600.1			2003/2640									lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	c.(2002-2004)CGC>CAC			Pfam_domain:PF00003,Prints_domain:PR00248,PROSITE_profiles:PS50259,hmmpanther:PTHR24060	glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)			ENSP00000355316		6-Apr	8.24E-06							6.83E-05	rs755884573,COSM1452514	6-Apr	.		ENST00000361669	Transcript			synaptic transmission	integral to plasma membrane		ENSG00000198822	g.chr7:86468833G>A	4595			MODERATE		3.09	medium	getma.org/?cm=msa&ty=f&p=GRM3_HUMAN&rb=586&re=826&var=R668H	NA	getma.org/?cm=var&var=hg19,7,86468833,G,A&fts=all	R668H	--	--	1																																		GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Missense_Mutation_p.R540H|GRM3_uc010leh.2_Missense_Mutation_p.R260H	0,1	1		probably_damaging(1)	p.R668H	NM_000840	NP_000831		deleterious(0)	0,1	GRM3_HUMAN	GRM3	HGNC	Q14832	GRM3_HUMAN			C9JUH9_HUMAN,C9JIT1_HUMAN,A4D1D0_HUMAN		4	3102	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		UPI0000153EFC	668			Cytoplasmic (Potential).		SNV	GRM3,missense_variant,p.Arg668His,ENST00000361669,NM_000840.2;GRM3,missense_variant,p.Arg540His,ENST00000536043,;GRM3,missense_variant,p.Arg260His,ENST00000546348,;GRM3,intron_variant,,ENST00000439827,;GRM3,intron_variant,,ENST00000394720,;	uc003uid.2	c.2003G>A	3102/4268	2	2			c.2003G>A						7	SNP	c.(2002-2004)CGC>CAC	41	41			lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Broad	glutamate receptor, metabotropic 3 precursor		Acamprosate(DB00659)|Nicotine(DB00184)	86468833		0.537	ENSG00000198822	6677	g.chr7:86468833G>A	synaptic transmission	integral to plasma membrane		GBM(52;969 1098 3139 52280)			GBM(52;969 1098 3139 52280)			-72.108579	KEEP	2	4	-1	169	146	2	4	-1	8.039553	169	146	0.016502	1	0	0	0	0	1	0	0	0	--	--		0	A			GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Missense_Mutation_p.R540H|GRM3_uc010leh.2_Missense_Mutation_p.R260H	97	GBM-06-5414-TP	p.R668H	G	TGCATTGCCCGCATCTTCGAT	NM_000840	NP_000831	86468833	Q14832	GRM3_HUMAN	0			4	3102	+	A	A	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		Missense_Mutation	668			Cytoplasmic (Potential).			
GRM3	0	broad.mit.edu	GRCh37	7	86415877	86415877	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-3653-01	TCGA-12-3653-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361669.2:c.769G>A	p.Asp257Asn	p.D257N	ENST00000361669	NM_000840.2	257	Gac/Aac	0		A:0	1	A:0		A	D/N	uc003uid.2	protein_coding	YES	CCDS5600.1			769/2640									lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	c.(769-771)GAC>AAC			Gene3D:3.40.50.2300,Pfam_domain:PF01094,Prints_domain:PR00593,Prints_domain:PR01053,hmmpanther:PTHR24060,Superfamily_domains:SSF53822	glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)	A:0		ENSP00000355316	A:0.001	6-Mar	1.65E-05		8.66E-05			1.52E-05			rs571579021,COSM3412421,COSM3412422	6-Mar	.		ENST00000361669	Transcript		A:0.0002	synaptic transmission	integral to plasma membrane		ENSG00000198822	g.chr7:86415877G>A	4595			MODERATE		2.15	medium	getma.org/?cm=msa&ty=f&p=GRM3_HUMAN&rb=67&re=473&var=D257N	getma.org/pdb.php?prot=GRM3_HUMAN&from=67&to=473&var=D257N	getma.org/?cm=var&var=hg19,7,86415877,G,A&fts=all	D257N	--	--	1																																		GRM3_uc010lef.2_Missense_Mutation_p.D255N|GRM3_uc010leg.2_Missense_Mutation_p.D129N|GRM3_uc010leh.2_Intron	0,1,1	1		probably_damaging(0.916)	p.D257N	NM_000840	NP_000831	A:0	tolerated(0.06)	0,1,1	GRM3_HUMAN	GRM3	HGNC	Q14832	GRM3_HUMAN			C9JUH9_HUMAN,C9JIT1_HUMAN,A4D1D0_HUMAN		3	1868	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		UPI0000153EFC	257			Extracellular (Potential).		SNV	GRM3,missense_variant,p.Asp257Asn,ENST00000361669,NM_000840.2;GRM3,missense_variant,p.Asp129Asn,ENST00000536043,;GRM3,missense_variant,p.Asp255Asn,ENST00000394720,;GRM3,missense_variant,p.Asp257Asn,ENST00000439827,;GRM3,missense_variant,p.Asp129Asn,ENST00000454217,;GRM3,intron_variant,,ENST00000546348,;AC005009.2,non_coding_transcript_exon_variant,,ENST00000452471,;AC005009.2,non_coding_transcript_exon_variant,,ENST00000418031,;	uc003uid.2	c.769G>A	1868/4268	1	1			c.769G>A						7	SNP	c.(769-771)GAC>AAC	58	58			lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Broad	glutamate receptor, metabotropic 3 precursor		Acamprosate(DB00659)|Nicotine(DB00184)	86415877		0.647	ENSG00000198822	6677	g.chr7:86415877G>A	synaptic transmission	integral to plasma membrane		GBM(52;969 1098 3139 52280)			GBM(52;969 1098 3139 52280)			21.717033	KEEP	10	10	-1	83	66	10	10	-1	44.554524	83	66	0.11875	1	0	0	0	0	1	0	0	0	--	--		0	A			GRM3_uc010lef.2_Missense_Mutation_p.D255N|GRM3_uc010leg.2_Missense_Mutation_p.D129N|GRM3_uc010leh.2_Intron	128	GBM-12-3653-TP	p.D257N	G	CAAGTCCTACGACAGCGTGAT	NM_000840	NP_000831	86415877	Q14832	GRM3_HUMAN	0			3	1868	+	A	A	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		Missense_Mutation	257			Extracellular (Potential).			
GRM3	0	broad.mit.edu	GRCh37	7	86415655	86415655	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01	TCGA-14-0789-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361669.2:c.547C>T	p.Arg183Cys	p.R183C	ENST00000361669	NM_000840.2	183	Cgc/Tgc	0			1			T	R/C	uc003uid.2	protein_coding	YES	CCDS5600.1			547/2640									lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	c.(547-549)CGC>TGC			Gene3D:3.40.50.2300,Pfam_domain:PF01094,Prints_domain:PR00248,hmmpanther:PTHR24060,Superfamily_domains:SSF53822	glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)			ENSP00000355316		6-Mar									COSM218933,COSM3412419	6-Mar	.		ENST00000361669	Transcript			synaptic transmission	integral to plasma membrane		ENSG00000198822	g.chr7:86415655C>T	4595			MODERATE		3.46	medium	getma.org/?cm=msa&ty=f&p=GRM3_HUMAN&rb=67&re=473&var=R183C	getma.org/pdb.php?prot=GRM3_HUMAN&from=67&to=473&var=R183C	getma.org/?cm=var&var=hg19,7,86415655,C,T&fts=all	R183C	--	--	1																																		GRM3_uc010lef.2_Missense_Mutation_p.R181C|GRM3_uc010leg.2_Missense_Mutation_p.R55C|GRM3_uc010leh.2_Intron	1,1	1		probably_damaging(1)	p.R183C	NM_000840	NP_000831		deleterious(0)	1,1	GRM3_HUMAN	GRM3	HGNC	Q14832	GRM3_HUMAN			C9JUH9_HUMAN,C9JIT1_HUMAN,A4D1D0_HUMAN		3	1646	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		UPI0000153EFC	183			Extracellular (Potential).		SNV	GRM3,missense_variant,p.Arg183Cys,ENST00000361669,NM_000840.2;GRM3,missense_variant,p.Arg55Cys,ENST00000536043,;GRM3,missense_variant,p.Arg181Cys,ENST00000394720,;GRM3,missense_variant,p.Arg183Cys,ENST00000439827,;GRM3,missense_variant,p.Arg55Cys,ENST00000454217,;GRM3,intron_variant,,ENST00000546348,;AC005009.2,non_coding_transcript_exon_variant,,ENST00000418031,;AC005009.2,intron_variant,,ENST00000452471,;	uc003uid.2	c.547C>T	1646/4268	1	1			c.547C>T						7	SNP	c.(547-549)CGC>TGC	10	10			lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Broad	glutamate receptor, metabotropic 3 precursor		Acamprosate(DB00659)|Nicotine(DB00184)	86415655		0.562	ENSG00000198822	6677	g.chr7:86415655C>T	synaptic transmission	integral to plasma membrane		GBM(52;969 1098 3139 52280)			GBM(52;969 1098 3139 52280)			243.743657	KEEP	56	52	-1	169	160	56	52	-1	268.727685	169	160	0.241463	1	0	0	0	0	1	0	0	0	--	--		0	T			GRM3_uc010lef.2_Missense_Mutation_p.R181C|GRM3_uc010leg.2_Missense_Mutation_p.R55C|GRM3_uc010leh.2_Intron	136	GBM-14-0789-TP	p.R183C	C	TGATAAGTCGCGCTATGATTA	NM_000840	NP_000831	86415655	Q14832	GRM3_HUMAN	0			3	1646	+	T	T	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		Missense_Mutation	183			Extracellular (Potential).			
GRM3	0	broad.mit.edu	GRCh37	7	86416220	86416220	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01	TCGA-32-1970-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361669.2:c.1112G>A	p.Arg371His	p.R371H	ENST00000361669	NM_000840.2	371	cGc/cAc	0			1			A	R/H	uc003uid.2	protein_coding	YES	CCDS5600.1			1112/2640									lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	c.(1111-1113)CGC>CAC			Gene3D:3.40.50.2300,Pfam_domain:PF01094,Prints_domain:PR01053,hmmpanther:PTHR24060,Superfamily_domains:SSF53822	glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)			ENSP00000355316		6-Mar									COSM3032178,COSM3412424	6-Mar	.		ENST00000361669	Transcript			synaptic transmission	integral to plasma membrane		ENSG00000198822	g.chr7:86416220G>A	4595			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=GRM3_HUMAN&rb=67&re=473&var=R371H	getma.org/pdb.php?prot=GRM3_HUMAN&from=67&to=473&var=R371H	getma.org/?cm=var&var=hg19,7,86416220,G,A&fts=all	R371H	--	--	1																																		GRM3_uc010lef.2_Missense_Mutation_p.R369H|GRM3_uc010leg.2_Missense_Mutation_p.R243H|GRM3_uc010leh.2_Intron	1,1	1		benign(0.005)	p.R371H	NM_000840	NP_000831		deleterious(0.03)	1,1	GRM3_HUMAN	GRM3	HGNC	Q14832	GRM3_HUMAN			C9JUH9_HUMAN,C9JIT1_HUMAN,A4D1D0_HUMAN		3	2211	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		UPI0000153EFC	371			Extracellular (Potential).		SNV	GRM3,missense_variant,p.Arg371His,ENST00000361669,NM_000840.2;GRM3,missense_variant,p.Arg243His,ENST00000536043,;GRM3,missense_variant,p.Arg369His,ENST00000394720,;GRM3,missense_variant,p.Arg371His,ENST00000439827,;GRM3,intron_variant,,ENST00000546348,;GRM3,downstream_gene_variant,,ENST00000454217,;AC005009.2,upstream_gene_variant,,ENST00000452471,;AC005009.2,upstream_gene_variant,,ENST00000418031,;	uc003uid.2	c.1112G>A	2211/4268	1	1			c.1112G>A						7	SNP	c.(1111-1113)CGC>CAC	56	56			lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Broad	glutamate receptor, metabotropic 3 precursor		Acamprosate(DB00659)|Nicotine(DB00184)	86416220		0.567	ENSG00000198822	6677	g.chr7:86416220G>A	synaptic transmission	integral to plasma membrane		GBM(52;969 1098 3139 52280)			GBM(52;969 1098 3139 52280)			58.786181	KEEP	16	13	-1	60	52	16	13	-1	68.062059	60	52	0.213115	1	0	0	0	0	1	0	0	0	--	--		0	A			GRM3_uc010lef.2_Missense_Mutation_p.R369H|GRM3_uc010leg.2_Missense_Mutation_p.R243H|GRM3_uc010leh.2_Intron	228	GBM-32-1970-TP	p.R371H	G	AACCACAGGCGCGTCTGCGAC	NM_000840	NP_000831	86416220	Q14832	GRM3_HUMAN	0			3	2211	+	A	A	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		Missense_Mutation	371			Extracellular (Potential).			
GRM3	0	broad.mit.edu	GRCh37	7	86468918	86468918	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-1970-01	TCGA-32-1970-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361669.2:c.2088C>T	p.Ile696=	p.I696=	ENST00000361669	NM_000840.2	696	atC/atT	0			1			T	I	uc003uid.2	protein_coding	YES	CCDS5600.1			2088/2640								p.I696T(1)	lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	c.(2086-2088)ATC>ATT			Pfam_domain:PF00003,Prints_domain:PR00248,PROSITE_profiles:PS50259,hmmpanther:PTHR24060,Transmembrane_helices:TMhelix	glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)			ENSP00000355316		6-Apr									COSM3412426	6-Apr	.		ENST00000361669	Transcript			synaptic transmission	integral to plasma membrane		ENSG00000198822	g.chr7:86468918C>T	4595			LOW								--	--	1																																		GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Silent_p.I568I|GRM3_uc010leh.2_Silent_p.I288I	1	1			p.I696I	NM_000840	NP_000831			1	GRM3_HUMAN	GRM3	HGNC	Q14832	GRM3_HUMAN			C9JUH9_HUMAN,C9JIT1_HUMAN,A4D1D0_HUMAN		4	3187	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		UPI0000153EFC	696			Helical; Name=4; (Potential).		SNV	GRM3,synonymous_variant,p.=,ENST00000361669,NM_000840.2;GRM3,synonymous_variant,p.=,ENST00000536043,;GRM3,synonymous_variant,p.=,ENST00000546348,;GRM3,intron_variant,,ENST00000439827,;GRM3,intron_variant,,ENST00000394720,;	uc003uid.2	c.2088C>T	3187/4268	2	2			c.2088C>T						7	SNP	c.(2086-2088)ATC>ATT	35	35		p.I696T(1)	lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Broad	glutamate receptor, metabotropic 3 precursor		Acamprosate(DB00659)|Nicotine(DB00184)	86468918		0.527	ENSG00000198822	6677	g.chr7:86468918C>T	synaptic transmission	integral to plasma membrane		GBM(52;969 1098 3139 52280)			GBM(52;969 1098 3139 52280)			-10.589304	KEEP	4	9	-1	94	100	4	9	-1	27.644337	94	100	0.066327	1	0	0	0	0	0	0	1	0	--	--		0	T			GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Silent_p.I568I|GRM3_uc010leh.2_Silent_p.I288I	228	GBM-32-1970-TP	p.I696I	C	TGGGTCTGATCCTGGTGCAAA	NM_000840	NP_000831	86468918	Q14832	GRM3_HUMAN	0			4	3187	+	T	T	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		Silent	696			Helical; Name=4; (Potential).			
GRM3	0	broad.mit.edu	GRCh37	7	86415655	86415655	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1986-01	TCGA-32-1986-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361669.2:c.547C>T	p.Arg183Cys	p.R183C	ENST00000361669	NM_000840.2	183	Cgc/Tgc	0			1			T	R/C	uc003uid.2	protein_coding	YES	CCDS5600.1			547/2640									lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	c.(547-549)CGC>TGC			Gene3D:3.40.50.2300,Pfam_domain:PF01094,Prints_domain:PR00248,hmmpanther:PTHR24060,Superfamily_domains:SSF53822	glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)			ENSP00000355316		6-Mar									COSM218933,COSM3412419	6-Mar	.		ENST00000361669	Transcript			synaptic transmission	integral to plasma membrane		ENSG00000198822	g.chr7:86415655C>T	4595			MODERATE		3.46	medium	getma.org/?cm=msa&ty=f&p=GRM3_HUMAN&rb=67&re=473&var=R183C	getma.org/pdb.php?prot=GRM3_HUMAN&from=67&to=473&var=R183C	getma.org/?cm=var&var=hg19,7,86415655,C,T&fts=all	R183C	--	--	1																																		GRM3_uc010lef.2_Missense_Mutation_p.R181C|GRM3_uc010leg.2_Missense_Mutation_p.R55C|GRM3_uc010leh.2_Intron	1,1	1		probably_damaging(1)	p.R183C	NM_000840	NP_000831		deleterious(0)	1,1	GRM3_HUMAN	GRM3	HGNC	Q14832	GRM3_HUMAN			C9JUH9_HUMAN,C9JIT1_HUMAN,A4D1D0_HUMAN		3	1646	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		UPI0000153EFC	183			Extracellular (Potential).		SNV	GRM3,missense_variant,p.Arg183Cys,ENST00000361669,NM_000840.2;GRM3,missense_variant,p.Arg55Cys,ENST00000536043,;GRM3,missense_variant,p.Arg181Cys,ENST00000394720,;GRM3,missense_variant,p.Arg183Cys,ENST00000439827,;GRM3,missense_variant,p.Arg55Cys,ENST00000454217,;GRM3,intron_variant,,ENST00000546348,;AC005009.2,non_coding_transcript_exon_variant,,ENST00000418031,;AC005009.2,intron_variant,,ENST00000452471,;	uc003uid.2	c.547C>T	1646/4268	1	1			c.547C>T						7	SNP	c.(547-549)CGC>TGC	10	10			lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Broad	glutamate receptor, metabotropic 3 precursor		Acamprosate(DB00659)|Nicotine(DB00184)	86415655		0.562	ENSG00000198822	6677	g.chr7:86415655C>T	synaptic transmission	integral to plasma membrane		GBM(52;969 1098 3139 52280)			GBM(52;969 1098 3139 52280)			169.075155	KEEP	42	42	-1	158	203	42	42	-1	207.513756	158	203	0.185542	1	0	0	0	0	1	0	0	0	--	--		0	T			GRM3_uc010lef.2_Missense_Mutation_p.R181C|GRM3_uc010leg.2_Missense_Mutation_p.R55C|GRM3_uc010leh.2_Intron	233	GBM-32-1986-TP	p.R183C	C	TGATAAGTCGCGCTATGATTA	NM_000840	NP_000831	86415655	Q14832	GRM3_HUMAN	0			3	1646	+	T	T	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		Missense_Mutation	183			Extracellular (Potential).			
GRM3	2913		GRCh37	7	86468659	86468659	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000361669.2:c.1829C>T	p.Ser610Leu	p.S610L	ENST00000361669	NM_000840.2	610	tCg/tTg	0																																																																																																																																																																																																																																												
GRM4	2914	broad.mit.edu	GRCh37	6	34004373	34004373	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs142049660	by1000genomes	TCGA-06-0152-01	TCGA-06-0152-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000538487.2:c.1514G>A	p.Arg505Gln	p.R505Q	ENST00000538487	NM_000841.2	505	cGg/cAg	0		T:0.0008	1	T:0		T	R/Q	uc003oir.3	protein_coding	YES	CCDS4787.1			1514/2739									lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6	c.(1513-1515)CGG>CAG			hmmpanther:PTHR24060:SF23,hmmpanther:PTHR24060,Superfamily_domains:SSF53822,Prints_domain:PR01054	glutamate receptor, metabotropic 4 precursor	L-Glutamic Acid(DB00142)	T:0		ENSP00000440556	T:0	11-Sep	2.49E-05	0.000119						9.10E-05	rs561013910,COSM2149879,COSM2149881,COSM2149880	11-Sep	.		ENST00000538487	Transcript		T:0.0002	activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	ENSG00000124493	g.chr6:34004373C>T	4596			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=GRM4_HUMAN&rb=483&re=515&var=R505Q	NA	getma.org/?cm=var&var=hg19,6,34004373,C,T&fts=all	R505Q	--	--	1																																		GRM4_uc011dsn.1_Missense_Mutation_p.R458Q|GRM4_uc010jvh.2_Missense_Mutation_p.R505Q|GRM4_uc010jvi.2_Missense_Mutation_p.R197Q|GRM4_uc003oio.2_Missense_Mutation_p.R197Q|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Missense_Mutation_p.R365Q|GRM4_uc003oiq.2_Missense_Mutation_p.R372Q|GRM4_uc011dsm.1_Missense_Mutation_p.R336Q	0,1,1,1	1		benign(0)	p.R505Q	NM_000841	NP_000832	T:0	tolerated(0.53)	0,1,1,1	GRM4_HUMAN	GRM4	HGNC	Q14833	GRM4_HUMAN			A8K0J8_HUMAN,A1L4F9_HUMAN		8	1684	-			UPI000004A7DE	505			Extracellular (Potential).		SNV	GRM4,missense_variant,p.Arg505Gln,ENST00000538487,NM_000841.2,NM_001256811.1;GRM4,missense_variant,p.Arg505Gln,ENST00000374181,;GRM4,missense_variant,p.Arg389Gln,ENST00000374177,NM_001256809.1;GRM4,missense_variant,p.Arg372Gln,ENST00000609222,NM_001256813.1;GRM4,missense_variant,p.Arg372Gln,ENST00000535756,;GRM4,missense_variant,p.Arg336Gln,ENST00000544773,NM_001256812.1;GRM4,missense_variant,p.Arg365Gln,ENST00000455714,NM_001256814.1;GRM4,downstream_gene_variant,,ENST00000609443,;GRM4,non_coding_transcript_exon_variant,,ENST00000545715,;GRM4,downstream_gene_variant,,ENST00000609915,;GRM4,3_prime_UTR_variant,,ENST00000609278,NM_001282847.1;GRM4,non_coding_transcript_exon_variant,,ENST00000609860,;	uc003oir.3	c.1514G>A	1958/4153	1	1			c.1514G>A						6	SNP	c.(1513-1515)CGG>CAG	7	7			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6	Broad	glutamate receptor, metabotropic 4 precursor		L-Glutamic Acid(DB00142)	34004373		0.647	ENSG00000124493	6678	g.chr6:34004373C>T	activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity							54.278778	KEEP	15	16	-1	23	37	15	16	-1	54.41641	23	37	0.435897	1	0	0	0	0	1	0	0	0	--	--		0	T			GRM4_uc011dsn.1_Missense_Mutation_p.R458Q|GRM4_uc010jvh.2_Missense_Mutation_p.R505Q|GRM4_uc010jvi.2_Missense_Mutation_p.R197Q|GRM4_uc003oio.2_Missense_Mutation_p.R197Q|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Missense_Mutation_p.R365Q|GRM4_uc003oiq.2_Missense_Mutation_p.R372Q|GRM4_uc011dsm.1_Missense_Mutation_p.R336Q	25	GBM-06-0152-TP	p.R505Q	C	CCAGTGCATCCGCTCTATCTG	NM_000841	NP_000832	34004373	Q14833	GRM4_HUMAN	0			8	1684	-	T	T			Missense_Mutation	505			Extracellular (Potential).			
GRM4	2914	broad.mit.edu	GRCh37	6	34008523	34008523	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01	TCGA-06-5408-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000538487.2:c.1171C>T	p.Arg391Cys	p.R391C	ENST00000538487	NM_000841.2	391	Cgt/Tgt	0			1			A	R/C	uc003oir.3	protein_coding	YES	CCDS4787.1			1171/2739									lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6	c.(1171-1173)CGT>TGT			hmmpanther:PTHR24060:SF23,hmmpanther:PTHR24060,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822	glutamate receptor, metabotropic 4 precursor	L-Glutamic Acid(DB00142)			ENSP00000440556		11-Jul	8.24E-06					1.51E-05			rs766080813,COSM3411022,COSM3411024,COSM3411023	11-Jul	.		ENST00000538487	Transcript			activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	ENSG00000124493	g.chr6:34008523G>A	4596			MODERATE		1.24	low	getma.org/?cm=msa&ty=f&p=GRM4_HUMAN&rb=77&re=482&var=R391C	getma.org/pdb.php?prot=GRM4_HUMAN&from=77&to=482&var=R391C	getma.org/?cm=var&var=hg19,6,34008523,G,A&fts=all	R391C	--	--	1																																		GRM4_uc011dsn.1_Missense_Mutation_p.R344C|GRM4_uc010jvh.2_Missense_Mutation_p.R391C|GRM4_uc010jvi.2_Missense_Mutation_p.R83C|GRM4_uc003oio.2_Missense_Mutation_p.R83C|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Missense_Mutation_p.R251C|GRM4_uc003oiq.2_Missense_Mutation_p.R258C|GRM4_uc011dsm.1_Missense_Mutation_p.R222C	0,1,1,1	1		probably_damaging(0.912)	p.R391C	NM_000841	NP_000832		deleterious(0.03)	0,1,1,1	GRM4_HUMAN	GRM4	HGNC	Q14833	GRM4_HUMAN			A8K0J8_HUMAN,A1L4F9_HUMAN		6	1341	-			UPI000004A7DE	391			Extracellular (Potential).		SNV	GRM4,missense_variant,p.Arg391Cys,ENST00000538487,NM_000841.2,NM_001256811.1;GRM4,missense_variant,p.Arg391Cys,ENST00000374181,;GRM4,missense_variant,p.Arg275Cys,ENST00000374177,NM_001256809.1;GRM4,missense_variant,p.Arg258Cys,ENST00000609222,NM_001256813.1;GRM4,missense_variant,p.Arg258Cys,ENST00000535756,;GRM4,missense_variant,p.Arg222Cys,ENST00000544773,NM_001256812.1;GRM4,missense_variant,p.Arg251Cys,ENST00000455714,NM_001256814.1;GRM4,missense_variant,p.Arg83Cys,ENST00000609443,;GRM4,splice_region_variant,,ENST00000545715,;GRM4,splice_region_variant,,ENST00000609915,;GRM4,splice_region_variant,,ENST00000609860,;GRM4,splice_region_variant,,ENST00000609278,NM_001282847.1;	uc003oir.3	c.1171C>T	1615/4153	2	2			c.1171C>T						6	SNP	c.(1171-1173)CGT>TGT	17	17			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6	Broad	glutamate receptor, metabotropic 4 precursor		L-Glutamic Acid(DB00142)	34008523		0.597	ENSG00000124493	6678	g.chr6:34008523G>A	activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity							-2.251862	KEEP	1	5	-1	28	33	1	5	-1	9.698616	28	33	0.065574	1	0	0	0	0	1	0	0	0	--	--		0	A			GRM4_uc011dsn.1_Missense_Mutation_p.R344C|GRM4_uc010jvh.2_Missense_Mutation_p.R391C|GRM4_uc010jvi.2_Missense_Mutation_p.R83C|GRM4_uc003oio.2_Missense_Mutation_p.R83C|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Missense_Mutation_p.R251C|GRM4_uc003oiq.2_Missense_Mutation_p.R258C|GRM4_uc011dsm.1_Missense_Mutation_p.R222C	92	GBM-06-5408-TP	p.R391C	G	ATTCGCTCACGGTCTGCAATG	NM_000841	NP_000832	34008523	Q14833	GRM4_HUMAN	0			6	1341	-	A	A			Missense_Mutation	391			Extracellular (Potential).			
GRM4	0	broad.mit.edu	GRCh37	6	34004117	34004117	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-26-5133-01	TCGA-26-5133-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000538487.2:c.1770G>A	p.Leu590=	p.L590=	ENST00000538487	NM_000841.2	590	ctG/ctA	0			1			T	L	uc003oir.3	protein_coding	YES	CCDS4787.1			1770/2739									lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6	c.(1768-1770)CTG>CTA			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50259,hmmpanther:PTHR24060:SF23,hmmpanther:PTHR24060	glutamate receptor, metabotropic 4 precursor	L-Glutamic Acid(DB00142)			ENSP00000440556		11-Sep									COSM2156964,COSM2156966,COSM2156965	11-Sep	.		ENST00000538487	Transcript			activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	ENSG00000124493	g.chr6:34004117C>T	4596			LOW								--	--	1																																		GRM4_uc011dsn.1_Silent_p.L543L|GRM4_uc010jvh.2_Silent_p.L590L|GRM4_uc010jvi.2_Silent_p.L282L|GRM4_uc003oio.2_Silent_p.L282L|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Silent_p.L450L|GRM4_uc003oiq.2_Silent_p.L457L|GRM4_uc011dsm.1_Silent_p.L421L	1,1,1	1			p.L590L	NM_000841	NP_000832			1,1,1	GRM4_HUMAN	GRM4	HGNC	Q14833	GRM4_HUMAN			A8K0J8_HUMAN,A1L4F9_HUMAN		8	1940	-			UPI000004A7DE	590			Helical; Name=1; (Potential).		SNV	GRM4,synonymous_variant,p.=,ENST00000538487,NM_000841.2,NM_001256811.1;GRM4,synonymous_variant,p.=,ENST00000374181,;GRM4,synonymous_variant,p.=,ENST00000374177,NM_001256809.1;GRM4,synonymous_variant,p.=,ENST00000609222,NM_001256813.1;GRM4,synonymous_variant,p.=,ENST00000535756,;GRM4,synonymous_variant,p.=,ENST00000544773,NM_001256812.1;GRM4,synonymous_variant,p.=,ENST00000455714,NM_001256814.1;GRM4,downstream_gene_variant,,ENST00000609443,;GRM4,non_coding_transcript_exon_variant,,ENST00000545715,;GRM4,downstream_gene_variant,,ENST00000609915,;GRM4,3_prime_UTR_variant,,ENST00000609278,NM_001282847.1;GRM4,non_coding_transcript_exon_variant,,ENST00000609860,;	uc003oir.3	c.1770G>A	2214/4153	1	1			c.1770G>A						6	SNP	c.(1768-1770)CTG>CTA	2	2			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6	Broad	glutamate receptor, metabotropic 4 precursor		L-Glutamic Acid(DB00142)	34004117		0.647	ENSG00000124493	6678	g.chr6:34004117C>T	activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity							46.290874	KEEP	13	14	-1	38	36	13	14	-1	50.67147	38	36	0.264368	1	0	0	0	0	0	0	1	0	--	--		0	T			GRM4_uc011dsn.1_Silent_p.L543L|GRM4_uc010jvh.2_Silent_p.L590L|GRM4_uc010jvi.2_Silent_p.L282L|GRM4_uc003oio.2_Silent_p.L282L|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Silent_p.L450L|GRM4_uc003oiq.2_Silent_p.L457L|GRM4_uc011dsm.1_Silent_p.L421L	182	GBM-26-5133-TP	p.L590L	C	GGAAGAGGGGCAGCACGGCCC	NM_000841	NP_000832	34004117	Q14833	GRM4_HUMAN	0			8	1940	-	T	T			Silent	590			Helical; Name=1; (Potential).			
GRM4	0	broad.mit.edu	GRCh37	6	34003985	34003985	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-2521-01	TCGA-27-2521-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000538487.2:c.1902C>T	p.Phe634=	p.F634=	ENST00000538487	NM_000841.2	634	ttC/ttT	0			1			A	F	uc003oir.3	protein_coding	YES	CCDS4787.1			1902/2739									lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6	c.(1900-1902)TTC>TTT			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50259,hmmpanther:PTHR24060:SF23,hmmpanther:PTHR24060,Pfam_domain:PF00003,Prints_domain:PR00248	glutamate receptor, metabotropic 4 precursor	L-Glutamic Acid(DB00142)			ENSP00000440556		11-Sep									COSM3411019,COSM3411021,COSM3411020	11-Sep	.		ENST00000538487	Transcript			activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	ENSG00000124493	g.chr6:34003985G>A	4596			LOW								--	--	1																																		GRM4_uc011dsn.1_Silent_p.F587F|GRM4_uc010jvh.2_Silent_p.F634F|GRM4_uc010jvi.2_Silent_p.F326F|GRM4_uc003oio.2_Silent_p.F326F|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Silent_p.F494F|GRM4_uc003oiq.2_Silent_p.F501F|GRM4_uc011dsm.1_Silent_p.F465F	1,1,1	1			p.F634F	NM_000841	NP_000832			1,1,1	GRM4_HUMAN	GRM4	HGNC	Q14833	GRM4_HUMAN			A8K0J8_HUMAN,A1L4F9_HUMAN		8	2072	-			UPI000004A7DE	634			Helical; Name=2; (Potential).		SNV	GRM4,synonymous_variant,p.=,ENST00000538487,NM_000841.2,NM_001256811.1;GRM4,synonymous_variant,p.=,ENST00000374181,;GRM4,synonymous_variant,p.=,ENST00000374177,NM_001256809.1;GRM4,synonymous_variant,p.=,ENST00000609222,NM_001256813.1;GRM4,synonymous_variant,p.=,ENST00000535756,;GRM4,synonymous_variant,p.=,ENST00000544773,NM_001256812.1;GRM4,synonymous_variant,p.=,ENST00000455714,NM_001256814.1;GRM4,downstream_gene_variant,,ENST00000609443,;GRM4,non_coding_transcript_exon_variant,,ENST00000545715,;GRM4,downstream_gene_variant,,ENST00000609915,;GRM4,3_prime_UTR_variant,,ENST00000609278,NM_001282847.1;GRM4,non_coding_transcript_exon_variant,,ENST00000609860,;	uc003oir.3	c.1902C>T	2346/4153	1	1			c.1902C>T						6	SNP	c.(1900-1902)TTC>TTT	51	51			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6	Broad	glutamate receptor, metabotropic 4 precursor		L-Glutamic Acid(DB00142)	34003985		0.592	ENSG00000124493	6678	g.chr6:34003985G>A	activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity							65.915128	KEEP	13	14	-1	22	20	13	14	-1	66.819544	22	20	0.370968	1	0	0	0	0	0	0	1	0	--	--		0	A			GRM4_uc011dsn.1_Silent_p.F587F|GRM4_uc010jvh.2_Silent_p.F634F|GRM4_uc010jvi.2_Silent_p.F326F|GRM4_uc003oio.2_Silent_p.F326F|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Silent_p.F494F|GRM4_uc003oiq.2_Silent_p.F501F|GRM4_uc011dsm.1_Silent_p.F465F	200	GBM-27-2521-TP	p.F634F	G	CATAGCACAGGAAGATGCCTG	NM_000841	NP_000832	34003985	Q14833	GRM4_HUMAN	0			8	2072	-	A	A			Silent	634			Helical; Name=2; (Potential).			
GRM5	2915	broad.mit.edu	GRCh37	11	88338071	88338071	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0158-01	TCGA-06-0158-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000418177.2:c.1209C>T	p.Ala403=	p.A403=	ENST00000418177		403	gcC/gcT	0			1			A	A	uc001pcq.2	protein_coding		CCDS44694.1			1209/3639									central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9	c.(1207-1209)GCC>GCT			Gene3D:3.40.50.2300,Pfam_domain:PF01094,Prints_domain:PR00593,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF30,Superfamily_domains:SSF53822	glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)			ENSP00000306138		9-Apr									COSM2150099,COSM2150098	9-Apr	.		ENST00000305447	Transcript			activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	ENSG00000168959	g.chr11:88338071G>A	4597			LOW								--	--	1																																		GRM5_uc009yvm.2_Silent_p.A403A	1,1				p.A403A	NM_001143831	NP_001137303			1,1	GRM5_HUMAN	GRM5	HGNC	P41594	GRM5_HUMAN					4	1409	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	UPI000012F081	403			Extracellular (Potential).		SNV	GRM5,synonymous_variant,p.=,ENST00000418177,;GRM5,synonymous_variant,p.=,ENST00000455756,NM_000842.3;GRM5,synonymous_variant,p.=,ENST00000305447,NM_001143831.2;GRM5,synonymous_variant,p.=,ENST00000305432,;GRM5,synonymous_variant,p.=,ENST00000393297,;	uc001pcq.2	c.1209C>T	1359/4571	2	2			c.1209C>T						11	SNP	c.(1207-1209)GCC>GCT	36	36			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9	Broad	glutamate receptor, metabotropic 5 isoform a		Acamprosate(DB00659)	88338071		0.458	ENSG00000168959	6679	g.chr11:88338071G>A	activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity							242.355438	KEEP	38	46	-1	44	47	38	46	-1	242.422208	44	47	0.478261	1	0	0	0	0	0	0	1	0	--	--		0	A			GRM5_uc009yvm.2_Silent_p.A403A	29	GBM-06-0158-TP	p.A403A	G	TCGAATAGATGGCGTTGATCA	NM_001143831	NP_001137303	88338071	P41594	GRM5_HUMAN	0			4	1409	-	A	A		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	Silent	403			Extracellular (Potential).			
GRM5	2915	broad.mit.edu	GRCh37	11	88242179	88242179	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0939-01	TCGA-06-0939-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000418177.2:c.3220G>C	p.Glu1074Gln	p.E1074Q	ENST00000418177		1074	Gag/Cag	0			1			G	E/Q	uc001pcq.2	protein_coding		CCDS44694.1			3220/3639									central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9	c.(3220-3222)GAG>CAG				glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)			ENSP00000306138		9-Sep									COSM3398182,COSM3398181	9-Sep	.		ENST00000305447	Transcript			activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	ENSG00000168959	g.chr11:88242179C>G	4597			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=GRM5_HUMAN&rb=1026&re=1161&var=E1074Q	NA	getma.org/?cm=var&var=hg19,11,88242179,C,G&fts=all	E1074Q	--	--	1																																		GRM5_uc009yvm.2_Missense_Mutation_p.E1042Q	1,1			probably_damaging(0.962)	p.E1074Q	NM_001143831	NP_001137303		deleterious_low_confidence(0.02)	1,1	GRM5_HUMAN	GRM5	HGNC	P41594	GRM5_HUMAN					9	3420	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	UPI000012F081	1074			Cytoplasmic (Potential).		SNV	GRM5,missense_variant,p.Glu1074Gln,ENST00000418177,;GRM5,missense_variant,p.Glu1042Gln,ENST00000455756,NM_000842.3;GRM5,missense_variant,p.Glu1074Gln,ENST00000305447,NM_001143831.2;GRM5,missense_variant,p.Glu1042Gln,ENST00000305432,;GRM5,intron_variant,,ENST00000393297,;GRM5-AS1,intron_variant,,ENST00000526448,;GRM5-AS1,upstream_gene_variant,,ENST00000531994,;	uc001pcq.2	c.3220G>C	3370/4571	3	3			c.3220G>C						11	SNP	c.(3220-3222)GAG>CAG	61	61			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9	Broad	glutamate receptor, metabotropic 5 isoform a		Acamprosate(DB00659)	88242179		0.667	ENSG00000168959	6679	g.chr11:88242179C>G	activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity							7.24953	KEEP	3	0	-1	2	1	3	0	-1	7.2931	2	1	0.4	1	0	0	0	0	1	0	0	0	--	--		0	G			GRM5_uc009yvm.2_Missense_Mutation_p.E1042Q	78	GBM-06-0939-TP	p.E1074Q	C	GAGTTGAGCTCGCTGATGTTG	NM_001143831	NP_001137303	88242179	P41594	GRM5_HUMAN	0			9	3420	-	G	G		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	Missense_Mutation	1074			Cytoplasmic (Potential).			
GRM5	0	broad.mit.edu	GRCh37	11	88780659	88780659	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01	TCGA-27-2519-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305447.4:c.382C>T	p.Arg128Cys	p.R128C	ENST00000305447	NM_001143831.2	128	Cgc/Tgc	0			1			A	R/C	uc001pcq.2	protein_coding		CCDS44694.1			382/3639								p.R128H(1)	central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9	c.(382-384)CGC>TGC			Gene3D:3.40.50.2300,Pfam_domain:PF01094,Prints_domain:PR01055,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF30,Superfamily_domains:SSF53822	glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)			ENSP00000306138		9-Jan									COSM3398184,COSM3398183	9-Jan	.		ENST00000305447	Transcript			activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	ENSG00000168959	g.chr11:88780659G>A	4597			MODERATE		1.75	low	getma.org/?cm=msa&ty=f&p=GRM5_HUMAN&rb=67&re=472&var=R128C	getma.org/pdb.php?prot=GRM5_HUMAN&from=67&to=472&var=R128C	getma.org/?cm=var&var=hg19,11,88780659,G,A&fts=all	R128C	--	--	1																																		GRM5_uc009yvm.2_Missense_Mutation_p.R128C|GRM5_uc009yvn.1_Missense_Mutation_p.R128C	1,1			probably_damaging(0.956)	p.R128C	NM_001143831	NP_001137303		deleterious(0.01)	1,1	GRM5_HUMAN	GRM5	HGNC	P41594	GRM5_HUMAN					1	582	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	UPI000012F081	128			Extracellular (Potential).		SNV	GRM5,missense_variant,p.Arg128Cys,ENST00000418177,;GRM5,missense_variant,p.Arg128Cys,ENST00000455756,NM_000842.3;GRM5,missense_variant,p.Arg128Cys,ENST00000305447,NM_001143831.2;GRM5,missense_variant,p.Arg128Cys,ENST00000305432,;GRM5,missense_variant,p.Arg128Cys,ENST00000393297,;GRM5,missense_variant,p.Arg128Cys,ENST00000393294,;GRM5,upstream_gene_variant,,ENST00000449371,;	uc001pcq.2	c.382C>T	532/4571	1	1			c.382C>T						11	SNP	c.(382-384)CGC>TGC	64	64		p.R128H(1)	central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9	Broad	glutamate receptor, metabotropic 5 isoform a		Acamprosate(DB00659)	88780659		0.522	ENSG00000168959	6679	g.chr11:88780659G>A	activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity							50.291619	KEEP	7	18	-1	40	55	7	18	-1	59.091266	40	55	0.203704	1	0	0	0	0	1	0	0	0	--	--		0	A			GRM5_uc009yvm.2_Missense_Mutation_p.R128C|GRM5_uc009yvn.1_Missense_Mutation_p.R128C	199	GBM-27-2519-TP	p.R128C	G	TCCACACAGCGTACCAAGCCT	NM_001143831	NP_001137303	88780659	P41594	GRM5_HUMAN	0			1	582	-	A	A		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	Missense_Mutation	128			Extracellular (Potential).			
GRM6	2916	broad.mit.edu	GRCh37	5	178413868	178413868	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0211-01	TCGA-06-0211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000231188.5:c.1471G>C	p.Gly491Arg	p.G491R	ENST00000231188	NM_000843.3	491	Ggc/Cgc	0			1			G	G/R	uc003mjr.2	protein_coding	YES	CCDS4442.1			1471/2634									lung(4)|ovary(2)|breast(1)|pancreas(1)	8	c.(1471-1473)GGC>CGC			Superfamily_domains:SSF53822,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF24	glutamate receptor, metabotropic 6 precursor				ENSP00000231188		10-Jul									COSM2150741	10-Jul	.		ENST00000231188	Transcript	1		detection of visible light|visual perception	integral to plasma membrane		ENSG00000113262	g.chr5:178413868C>G	4598			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=GRM6_HUMAN&rb=478&re=513&var=G491R	NA	getma.org/?cm=var&var=hg19,5,178413868,C,G&fts=all	G491R	--	--	1																																		GRM6_uc003mjq.2_5'Flank|GRM6_uc010jla.1_Missense_Mutation_p.G74R|GRM6_uc003mjs.1_Missense_Mutation_p.G111R	1	1		probably_damaging(1)	p.G491R	NM_000843	NP_000834		deleterious(0)	1	GRM6_HUMAN	GRM6	HGNC	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)			7	1650	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	UPI000013C947	491			Extracellular (Potential).		SNV	GRM6,missense_variant,p.Gly491Arg,ENST00000231188,NM_000843.3;GRM6,missense_variant,p.Gly491Arg,ENST00000517717,;RP11-281O15.4,intron_variant,,ENST00000519491,;GRM6,non_coding_transcript_exon_variant,,ENST00000518082,;GRM6,upstream_gene_variant,,ENST00000519003,;	uc003mjr.2	c.1471G>C	1650/6143	4	4			c.1471G>C						5	SNP	c.(1471-1473)GGC>CGC	30	30			lung(4)|ovary(2)|breast(1)|pancreas(1)	8	Broad	glutamate receptor, metabotropic 6 precursor			178413868		0.642	ENSG00000113262	6680	g.chr5:178413868C>G	detection of visible light|visual perception	integral to plasma membrane								56.62097	KEEP	10	11	-1	16	6	10	11	-1	56.623715	16	6	0.513514	1	0	0	0	0	1	0	0	0	--	--		0	G			GRM6_uc003mjq.2_5'Flank|GRM6_uc010jla.1_Missense_Mutation_p.G74R|GRM6_uc003mjs.1_Missense_Mutation_p.G111R	48	GBM-06-0211-TP	p.G491R	C	GCCCACTGGCCCACTGCCTGG	NM_000843	NP_000834	178413868	O15303	GRM6_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	7	1650	-	G	G	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Missense_Mutation	491			Extracellular (Potential).			
GRM6	2916	broad.mit.edu	GRCh37	5	178416095	178416095	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01	TCGA-06-0214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000231188.5:c.1195G>A	p.Gly399Ser	p.G399S	ENST00000231188	NM_000843.3	399	Ggc/Agc	0			1			T	G/S	uc003mjr.2	protein_coding	YES	CCDS4442.1			1195/2634									lung(4)|ovary(2)|breast(1)|pancreas(1)	8	c.(1195-1197)GGC>AGC			Prints_domain:PR00593,Superfamily_domains:SSF53822,Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF24	glutamate receptor, metabotropic 6 precursor				ENSP00000231188		10-Jun									COSM3410178	10-Jun	.		ENST00000231188	Transcript	1		detection of visible light|visual perception	integral to plasma membrane		ENSG00000113262	g.chr5:178416095C>T	4598			MODERATE		1.18	low	getma.org/?cm=msa&ty=f&p=GRM6_HUMAN&rb=67&re=477&var=G399S	getma.org/pdb.php?prot=GRM6_HUMAN&from=67&to=477&var=G399S	getma.org/?cm=var&var=hg19,5,178416095,C,T&fts=all	G399S	--	--	1																																		GRM6_uc010jla.1_Intron|GRM6_uc003mjs.1_Missense_Mutation_p.G19S	1	1		possibly_damaging(0.817)	p.G399S	NM_000843	NP_000834		tolerated(0.55)	1	GRM6_HUMAN	GRM6	HGNC	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)			6	1374	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	UPI000013C947	399			Extracellular (Potential).		SNV	GRM6,missense_variant,p.Gly399Ser,ENST00000231188,NM_000843.3;GRM6,missense_variant,p.Gly399Ser,ENST00000517717,;RP11-281O15.4,intron_variant,,ENST00000519491,;GRM6,upstream_gene_variant,,ENST00000518082,;GRM6,upstream_gene_variant,,ENST00000519003,;	uc003mjr.2	c.1195G>A	1374/6143	2	2			c.1195G>A						5	SNP	c.(1195-1197)GGC>AGC	28	28			lung(4)|ovary(2)|breast(1)|pancreas(1)	8	Broad	glutamate receptor, metabotropic 6 precursor			178416095		0.667	ENSG00000113262	6680	g.chr5:178416095C>T	detection of visible light|visual perception	integral to plasma membrane								25.300911	KEEP	3	9	-1	25	23	3	9	-1	29.29857	25	23	0.211538	1	0	0	0	0	1	0	0	0	--	--		0	T			GRM6_uc010jla.1_Intron|GRM6_uc003mjs.1_Missense_Mutation_p.G19S	50	GBM-06-0214-TP	p.G399S	C	TGCACCTTGCCCTCCTGCTCG	NM_000843	NP_000834	178416095	O15303	GRM6_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	6	1374	-	T	T	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Missense_Mutation	399			Extracellular (Potential).			
GRM6	2916	broad.mit.edu	GRCh37	5	178415969	178415969	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01	TCGA-06-0686-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000231188.5:c.1321C>T	p.Leu441Phe	p.L441F	ENST00000231188	NM_000843.3	441	Ctt/Ttt	0			1			A	L/F	uc003mjr.2	protein_coding	YES	CCDS4442.1			1321/2634									lung(4)|ovary(2)|breast(1)|pancreas(1)	8	c.(1321-1323)CTT>TTT			Superfamily_domains:SSF53822,Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF24	glutamate receptor, metabotropic 6 precursor				ENSP00000231188		10-Jun									COSM3410177	10-Jun	.		ENST00000231188	Transcript	1		detection of visible light|visual perception	integral to plasma membrane		ENSG00000113262	g.chr5:178415969G>A	4598			MODERATE		2.055	medium	getma.org/?cm=msa&ty=f&p=GRM6_HUMAN&rb=67&re=477&var=L441F	getma.org/pdb.php?prot=GRM6_HUMAN&from=67&to=477&var=L441F	getma.org/?cm=var&var=hg19,5,178415969,G,A&fts=all	L441F	--	--	1																																		GRM6_uc010jla.1_Missense_Mutation_p.L24F|GRM6_uc003mjs.1_Missense_Mutation_p.L61F	1	1		probably_damaging(0.942)	p.L441F	NM_000843	NP_000834		tolerated(0.14)	1	GRM6_HUMAN	GRM6	HGNC	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)			6	1500	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	UPI000013C947	441			Extracellular (Potential).		SNV	GRM6,missense_variant,p.Leu441Phe,ENST00000231188,NM_000843.3;GRM6,missense_variant,p.Leu441Phe,ENST00000517717,;RP11-281O15.4,intron_variant,,ENST00000519491,;GRM6,non_coding_transcript_exon_variant,,ENST00000518082,;GRM6,upstream_gene_variant,,ENST00000519003,;	uc003mjr.2	c.1321C>T	1500/6143	2	2			c.1321C>T						5	SNP	c.(1321-1323)CTT>TTT	17	17			lung(4)|ovary(2)|breast(1)|pancreas(1)	8	Broad	glutamate receptor, metabotropic 6 precursor			178415969		0.642	ENSG00000113262	6680	g.chr5:178415969G>A	detection of visible light|visual perception	integral to plasma membrane								-1.7128	KEEP	2	2	-1	35	20	2	2	-1	7.587446	35	20	0.06383	1	0	0	0	0	1	0	0	0	--	--		0	A			GRM6_uc010jla.1_Missense_Mutation_p.L24F|GRM6_uc003mjs.1_Missense_Mutation_p.L61F	64	GBM-06-0686-TP	p.L441F	G	TACTGCAGAAGCATCCGCCCA	NM_000843	NP_000834	178415969	O15303	GRM6_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	6	1500	-	A	A	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Missense_Mutation	441			Extracellular (Potential).			
GRM7	2917	broad.mit.edu	GRCh37	3	6903093	6903093	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0145-01	TCGA-06-0145-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357716.4:c.18G>T	p.Lys6Asn	p.K6N	ENST00000357716	NM_000844.3	6	aaG/aaT	0			1			T	K/N	uc003bqm.2	protein_coding	YES	CCDS43042.1			18/2748									ovary(4)|lung(3)	7	c.(16-18)AAG>AAT			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24060:SF104,hmmpanther:PTHR24060,Prints_domain:PR01057	glutamate receptor, metabotropic 7 isoform a	L-Glutamic Acid(DB00142)			ENSP00000350348		10-Jan									COSM2149720	10-Jan	.		ENST00000357716	Transcript			negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	ENSG00000196277	g.chr3:6903093G>T	4599			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=GRM7_HUMAN&rb=1&re=76&var=K6N	NA	getma.org/?cm=var&var=hg19,3,6903093,G,T&fts=all	K6N	--	--	1																																		GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.K6N|GRM7_uc003bql.2_Missense_Mutation_p.K6N	1	1		benign(0.004)	p.K6N	NM_000844	NP_000835		tolerated_low_confidence(0.32)	1	GRM7_HUMAN	GRM7	HGNC	Q14831	GRM7_HUMAN			C9JU97_HUMAN		1	292	+			UPI000004A7E3	6					SNV	GRM7,missense_variant,p.Lys6Asn,ENST00000486284,NM_181874.2;GRM7,missense_variant,p.Lys6Asn,ENST00000357716,NM_000844.3;GRM7,missense_variant,p.Lys6Asn,ENST00000389336,;GRM7,missense_variant,p.Lys6Asn,ENST00000402647,;GRM7,missense_variant,p.Lys6Asn,ENST00000403881,;GRM7,intron_variant,,ENST00000448328,;GRM7,missense_variant,p.Lys6Asn,ENST00000467425,;GRM7,missense_variant,p.Lys6Asn,ENST00000440923,;GRM7,missense_variant,p.Lys6Asn,ENST00000389335,;GRM7,intron_variant,,ENST00000443259,;GRM7,upstream_gene_variant,,ENST00000435689,;	uc003bqm.2	c.18G>T	292/4127	2	2			c.18G>T						3	SNP	c.(16-18)AAG>AAT	45	45			ovary(4)|lung(3)	7	Broad	glutamate receptor, metabotropic 7 isoform a		L-Glutamic Acid(DB00142)	6903093		0.721	ENSG00000196277	6681	g.chr3:6903093G>T	negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding							15.943057	KEEP	5	2	0.714285714	12	2	5	2	0.714285714	16.38634	12	2	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	T			GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.K6N|GRM7_uc003bql.2_Missense_Mutation_p.K6N	23	GBM-06-0145-TP	p.K6N	G	AGCTGAGGAAGCTGCTCCGCG	NM_000844	NP_000835	6903093	Q14831	GRM7_HUMAN	0			1	292	+	T	T			Missense_Mutation	6						
GRM7	0	broad.mit.edu	GRCh37	3	6903256	6903256	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-16-0846-01	TCGA-16-0846-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357716.4:c.181G>T	p.Gly61Cys	p.G61C	ENST00000357716	NM_000844.3	61	Ggt/Tgt	0			1			T	G/C	uc003bqm.2	protein_coding	YES	CCDS43042.1			181/2748									ovary(4)|lung(3)	7	c.(181-183)GGT>TGT			hmmpanther:PTHR24060:SF104,hmmpanther:PTHR24060,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822	glutamate receptor, metabotropic 7 isoform a	L-Glutamic Acid(DB00142)			ENSP00000350348		10-Jan									COSM3408869,COSM3408870,COSM3408871	10-Jan	.		ENST00000357716	Transcript			negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	ENSG00000196277	g.chr3:6903256G>T	4599			MODERATE		2.385	medium	getma.org/?cm=msa&ty=f&p=GRM7_HUMAN&rb=1&re=76&var=G61C	getma.org/pdb.php?prot=GRM7_HUMAN&from=1&to=76&var=G61C	getma.org/?cm=var&var=hg19,3,6903256,G,T&fts=all	G61C	--	--	1																																		GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.G61C|GRM7_uc003bql.2_Missense_Mutation_p.G61C	1,1,1	1		probably_damaging(1)	p.G61C	NM_000844	NP_000835		deleterious(0)	1,1,1	GRM7_HUMAN	GRM7	HGNC	Q14831	GRM7_HUMAN			C9JU97_HUMAN		1	455	+			UPI000004A7E3	61			Extracellular (Potential).		SNV	GRM7,missense_variant,p.Gly61Cys,ENST00000486284,NM_181874.2;GRM7,missense_variant,p.Gly61Cys,ENST00000357716,NM_000844.3;GRM7,missense_variant,p.Gly61Cys,ENST00000389336,;GRM7,missense_variant,p.Gly61Cys,ENST00000402647,;GRM7,missense_variant,p.Gly61Cys,ENST00000403881,;GRM7,intron_variant,,ENST00000448328,;GRM7,missense_variant,p.Gly61Cys,ENST00000467425,;GRM7,missense_variant,p.Gly61Cys,ENST00000440923,;GRM7,missense_variant,p.Gly61Cys,ENST00000389335,;GRM7,intron_variant,,ENST00000443259,;GRM7,upstream_gene_variant,,ENST00000435689,;	uc003bqm.2	c.181G>T	455/4127	1	1			c.181G>T						3	SNP	c.(181-183)GGT>TGT	4	4			ovary(4)|lung(3)	7	Broad	glutamate receptor, metabotropic 7 isoform a		L-Glutamic Acid(DB00142)	6903256		0.672	ENSG00000196277	6681	g.chr3:6903256G>T	negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding							19.891211	KEEP	6	3	0.666666667	11	10	6	3	0.666666667	21.043425	11	10	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	T			GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.G61C|GRM7_uc003bql.2_Missense_Mutation_p.G61C	155	GBM-16-0846-TP	p.G61C	G	GCACGCCAAGGGTCCCAGCGG	NM_000844	NP_000835	6903256	Q14831	GRM7_HUMAN	0			1	455	+	T	T			Missense_Mutation	61			Extracellular (Potential).			
GRM8	2918	broad.mit.edu	GRCh37	7	126882805	126882805	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0189-01	TCGA-06-0189-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339582.2:c.454G>C	p.Gly152Arg	p.G152R	ENST00000339582		152	Ggt/Cgt	0			1			G	G/R	uc003vlr.2	protein_coding	YES	CCDS5794.1			454/2727									lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23	c.(454-456)GGT>CGT			Gene3D:3.40.50.2300,Pfam_domain:PF01094,Prints_domain:PR00248,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF26,Low_complexity_(Seg):seg,Superfamily_domains:SSF53822	glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)			ENSP00000344173		11-Feb	8.24E-06					1.50E-05			rs769982247,COSM3411558,COSM3411559,COSM3411560	11-Feb	.		ENST00000339582	Transcript			negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		ENSG00000179603	g.chr7:126882805C>G	4600			MODERATE		3.855	high	getma.org/?cm=msa&ty=f&p=GRM8_HUMAN&rb=74&re=478&var=G152R	getma.org/pdb.php?prot=GRM8_HUMAN&from=74&to=478&var=G152R	getma.org/?cm=var&var=hg19,7,126882805,C,G&fts=all	G152R	--	--	1				HNSCC(24;0.065)																														GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.G152R|GRM8_uc010lkz.1_RNA	0,1,1,1	1		probably_damaging(1)	p.G152R	NM_000845	NP_000836		deleterious(0)	0,1,1,1	GRM8_HUMAN	GRM8	HGNC	O00222	GRM8_HUMAN			E7ETK3_HUMAN,C9J7I1_HUMAN		1	765	-		Prostate(267;0.186)	UPI000012F085	152			Extracellular (Potential).		SNV	GRM8,missense_variant,p.Gly152Arg,ENST00000339582,;GRM8,missense_variant,p.Gly152Arg,ENST00000358373,NM_001127323.1;GRM8,missense_variant,p.Gly152Arg,ENST00000444921,NM_000845.2;GRM8,missense_variant,p.Gly152Arg,ENST00000405249,;GRM8,missense_variant,p.Gly152Arg,ENST00000457830,;GRM8,downstream_gene_variant,,ENST00000412160,;GRM8,missense_variant,p.Gly152Arg,ENST00000472701,;GRM8,missense_variant,p.Gly152Arg,ENST00000341617,;	uc003vlr.2	c.454G>C	1263/4057	4	4			c.454G>C						7	SNP	c.(454-456)GGT>CGT	22	22			lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23	Broad	glutamate receptor, metabotropic 8 isoform a		L-Glutamic Acid(DB00142)	126882805		0.433	ENSG00000179603	6682	g.chr7:126882805C>G	negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane								6.813389	KEEP	12	5	-1	88	108	12	5	-1	39.426089	88	108	0.089005	1	0	0	0	0	1	0	0	0	--	--	HNSCC(24;0.065)	0	G			GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.G152R|GRM8_uc010lkz.1_RNA	42	GBM-06-0189-TP	p.G152R	C	GCTGCAGCACCTATGACGCCA	NM_000845	NP_000836	126882805	O00222	GRM8_HUMAN	0			1	765	-	G	G		Prostate(267;0.186)	Missense_Mutation	152			Extracellular (Potential).			
GRM8	2918	broad.mit.edu	GRCh37	7	126086220	126086220	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0882-01	TCGA-06-0882-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339582.2:c.2637C>T	p.Gly879=	p.G879=	ENST00000339582		879	ggC/ggT	0			1			A	G	uc003vlr.2	protein_coding	YES	CCDS5794.1			2637/2727									lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23	c.(2635-2637)GGC>GGT			hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF26	glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)			ENSP00000344173		11-Oct	4.12E-05			0.000116	0.000606				rs762951215,COSM2152351,COSM3411543	11-Oct	common_variant		ENST00000339582	Transcript			negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		ENSG00000179603	g.chr7:126086220G>A	4600			LOW								--	--	1				HNSCC(24;0.065)																														GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.G879G|GRM8_uc010lkz.1_RNA	0,1,1	1			p.G879G	NM_000845	NP_000836			0,1,1	GRM8_HUMAN	GRM8	HGNC	O00222	GRM8_HUMAN			E7ETK3_HUMAN,C9J7I1_HUMAN		9	2948	-		Prostate(267;0.186)	UPI000012F085	879			Cytoplasmic (Potential).		SNV	GRM8,synonymous_variant,p.=,ENST00000339582,;GRM8,synonymous_variant,p.=,ENST00000358373,NM_001127323.1;GRM8,synonymous_variant,p.=,ENST00000444921,NM_000845.2;GRM8,non_coding_transcript_exon_variant,,ENST00000489939,;GRM8,non_coding_transcript_exon_variant,,ENST00000495315,;GRM8,synonymous_variant,p.=,ENST00000472701,;GRM8,3_prime_UTR_variant,,ENST00000341617,;	uc003vlr.2	c.2637C>T	3446/4057	2	2			c.2637C>T						7	SNP	c.(2635-2637)GGC>GGT	26	26			lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23	Broad	glutamate receptor, metabotropic 8 isoform a		L-Glutamic Acid(DB00142)	126086220		0.453	ENSG00000179603	6682	g.chr7:126086220G>A	negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane								137.870945	KEEP	34	34	-1	130	123	34	34	-1	160.324426	130	123	0.217105	1	0	0	0	0	0	0	1	0	--	--	HNSCC(24;0.065)	0	A			GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.G879G|GRM8_uc010lkz.1_RNA	77	GBM-06-0882-TP	p.G879G	G	TTTTCACCTCGCCATTTGGTC	NM_000845	NP_000836	126086220	O00222	GRM8_HUMAN	0			9	2948	-	A	A		Prostate(267;0.186)	Silent	879			Cytoplasmic (Potential).			
GRM8	2918	broad.mit.edu	GRCh37	7	126173406	126173406	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-2559-01	TCGA-06-2559-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339582.2:c.2030T>C	p.Phe677Ser	p.F677S	ENST00000339582		677	tTt/tCt	0			1			G	F/S	uc003vlr.2	protein_coding	YES	CCDS5794.1			2030/2727									lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23	c.(2029-2031)TTT>TCT			Pfam_domain:PF00003,Prints_domain:PR00248,PROSITE_profiles:PS50259,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF26	glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)			ENSP00000344173		11-Sep									COSM2152664,COSM3411544	11-Sep	.		ENST00000339582	Transcript			negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		ENSG00000179603	g.chr7:126173406A>G	4600			MODERATE		3.5	medium	getma.org/?cm=msa&ty=f&p=GRM8_HUMAN&rb=593&re=841&var=F677S	NA	getma.org/?cm=var&var=hg19,7,126173406,A,G&fts=all	F677S	--	--	1				HNSCC(24;0.065)																														GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.F677S|GRM8_uc010lkz.1_RNA	1,1	1		probably_damaging(0.999)	p.F677S	NM_000845	NP_000836		deleterious(0)	1,1	GRM8_HUMAN	GRM8	HGNC	O00222	GRM8_HUMAN			E7ETK3_HUMAN,C9J7I1_HUMAN		8	2341	-		Prostate(267;0.186)	UPI000012F085	677			Cytoplasmic (Potential).		SNV	GRM8,missense_variant,p.Phe677Ser,ENST00000339582,;GRM8,missense_variant,p.Phe677Ser,ENST00000358373,NM_001127323.1;GRM8,missense_variant,p.Phe677Ser,ENST00000444921,NM_000845.2;GRM8,non_coding_transcript_exon_variant,,ENST00000480995,;GRM8,missense_variant,p.Phe677Ser,ENST00000472701,;GRM8,3_prime_UTR_variant,,ENST00000341617,;	uc003vlr.2	c.2030T>C	2839/4057	3	3			c.2030T>C						7	SNP	c.(2029-2031)TTT>TCT	64	64			lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23	Broad	glutamate receptor, metabotropic 8 isoform a		L-Glutamic Acid(DB00142)	126173406		0.502	ENSG00000179603	6682	g.chr7:126173406A>G	negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane								149.821815	KEEP	27	26	-1	54	62	27	26	-1	154.89043	54	62	0.304054	1	0	0	0	0	1	0	0	0	--	--	HNSCC(24;0.065)	0	G			GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.F677S|GRM8_uc010lkz.1_RNA	83	GBM-06-2559-TP	p.F677S	A	CCCCTGCTCAAATATTCGGTG	NM_000845	NP_000836	126173406	O00222	GRM8_HUMAN	0			8	2341	-	G	G		Prostate(267;0.186)	Missense_Mutation	677			Cytoplasmic (Potential).			
GRM8	0	broad.mit.edu	GRCh37	7	126542691	126542691	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339582.2:c.1061G>A	p.Arg354Gln	p.R354Q	ENST00000339582		354	cGa/cAa	0			1			T	R/Q	uc003vlr.2	protein_coding	YES	CCDS5794.1			1061/2727									lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23	c.(1060-1062)CGA>CAA			Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF26,Superfamily_domains:SSF53822	glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)			ENSP00000344173		11-Jun									COSM3411553,COSM3411554,COSM3411555	11-Jun	.		ENST00000339582	Transcript			negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		ENSG00000179603	g.chr7:126542691C>T	4600			MODERATE		2.07	medium	getma.org/?cm=msa&ty=f&p=GRM8_HUMAN&rb=74&re=478&var=R354Q	getma.org/pdb.php?prot=GRM8_HUMAN&from=74&to=478&var=R354Q	getma.org/?cm=var&var=hg19,7,126542691,C,T&fts=all	R354Q	--	--	1				HNSCC(24;0.065)																														GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.R354Q|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Missense_Mutation_p.R75Q	1,1,1	1		possibly_damaging(0.794)	p.R354Q	NM_000845	NP_000836		tolerated(0.17)	1,1,1	GRM8_HUMAN	GRM8	HGNC	O00222	GRM8_HUMAN			E7ETK3_HUMAN,C9J7I1_HUMAN		5	1372	-		Prostate(267;0.186)	UPI000012F085	354			Extracellular (Potential).		SNV	GRM8,missense_variant,p.Arg354Gln,ENST00000339582,;GRM8,missense_variant,p.Arg354Gln,ENST00000358373,NM_001127323.1;GRM8,missense_variant,p.Arg354Gln,ENST00000444921,NM_000845.2;GRM8,missense_variant,p.Arg354Gln,ENST00000405249,;GRM8,downstream_gene_variant,,ENST00000457830,;GRM8,non_coding_transcript_exon_variant,,ENST00000480995,;GRM8,non_coding_transcript_exon_variant,,ENST00000448250,;GRM8,missense_variant,p.Arg354Gln,ENST00000472701,;GRM8,missense_variant,p.Arg354Gln,ENST00000341617,;	uc003vlr.2	c.1061G>A	1870/4057	1	1			c.1061G>A						7	SNP	c.(1060-1062)CGA>CAA	1	1			lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23	Broad	glutamate receptor, metabotropic 8 isoform a		L-Glutamic Acid(DB00142)	126542691		0.348	ENSG00000179603	6682	g.chr7:126542691C>T	negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane								130.935054	KEEP	22	33	-1	58	65	22	33	-1	135.690939	58	65	0.310811	1	0	0	0	0	1	0	0	0	--	--	HNSCC(24;0.065)	0	T			GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.R354Q|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Missense_Mutation_p.R75Q	159	GBM-19-1390-TP	p.R354Q	C	CACATTTCTTCGATTATTGGC	NM_000845	NP_000836	126542691	O00222	GRM8_HUMAN	0			5	1372	-	T	T		Prostate(267;0.186)	Missense_Mutation	354			Extracellular (Potential).			
GRM8	0	broad.mit.edu	GRCh37	7	126173579	126173579	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2631-01	TCGA-19-2631-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339582.2:c.1857C>T	p.Arg619=	p.R619=	ENST00000339582		619	cgC/cgT	0			1			A	R	uc003vlr.2	protein_coding	YES	CCDS5794.1			1857/2727									lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23	c.(1855-1857)CGC>CGT			Pfam_domain:PF00003,Prints_domain:PR00248,PROSITE_profiles:PS50259,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF26	glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)			ENSP00000344173		11-Sep									COSM296098,COSM3411545	11-Sep	.		ENST00000339582	Transcript			negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		ENSG00000179603	g.chr7:126173579G>A	4600			LOW								--	--	1				HNSCC(24;0.065)																														GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.R619R|GRM8_uc010lkz.1_RNA	1,1	1			p.R619R	NM_000845	NP_000836			1,1	GRM8_HUMAN	GRM8	HGNC	O00222	GRM8_HUMAN			E7ETK3_HUMAN,C9J7I1_HUMAN		8	2168	-		Prostate(267;0.186)	UPI000012F085	619			Cytoplasmic (Potential).		SNV	GRM8,synonymous_variant,p.=,ENST00000339582,;GRM8,synonymous_variant,p.=,ENST00000358373,NM_001127323.1;GRM8,synonymous_variant,p.=,ENST00000444921,NM_000845.2;GRM8,non_coding_transcript_exon_variant,,ENST00000480995,;GRM8,synonymous_variant,p.=,ENST00000472701,;GRM8,3_prime_UTR_variant,,ENST00000341617,;	uc003vlr.2	c.1857C>T	2666/4057	1	1			c.1857C>T						7	SNP	c.(1855-1857)CGC>CGT	62	62			lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23	Broad	glutamate receptor, metabotropic 8 isoform a		L-Glutamic Acid(DB00142)	126173579		0.458	ENSG00000179603	6682	g.chr7:126173579G>A	negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane								-22.973378	KEEP	4	1	-1	66	64	4	1	-1	6.754276	66	64	0.02521	1	0	0	0	0	0	0	1	0	--	--	HNSCC(24;0.065)	0	A			GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.R619R|GRM8_uc010lkz.1_RNA	167	GBM-19-2631-TP	p.R619R	G	AACTAAGTTCGCGTCCTGAAG	NM_000845	NP_000836	126173579	O00222	GRM8_HUMAN	0			8	2168	-	A	A		Prostate(267;0.186)	Silent	619			Cytoplasmic (Potential).			
GRM8	0	broad.mit.edu	GRCh37	7	126409978	126409978	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01	TCGA-19-5955-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339582.2:c.1298G>A	p.Arg433Gln	p.R433Q	ENST00000339582		433	cGa/cAa	0			1			T	R/Q	uc003vlr.2	protein_coding	YES	CCDS5794.1			1298/2727									lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23	c.(1297-1299)CGA>CAA			Gene3D:3.40.50.2300,Pfam_domain:PF01094,Prints_domain:PR01058,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF26,Superfamily_domains:SSF53822	glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)			ENSP00000344173		11-Jul	8.24E-06							6.06E-05	rs780568800,COSM2768183,COSM3411552,COSM2768184	11-Jul	.		ENST00000339582	Transcript			negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		ENSG00000179603	g.chr7:126409978C>T	4600			MODERATE		0.22	neutral	getma.org/?cm=msa&ty=f&p=GRM8_HUMAN&rb=74&re=478&var=R433Q	getma.org/pdb.php?prot=GRM8_HUMAN&from=74&to=478&var=R433Q	getma.org/?cm=var&var=hg19,7,126409978,C,T&fts=all	R433Q	--	--	1				HNSCC(24;0.065)																														GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.R433Q|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Missense_Mutation_p.R154Q	0,1,1,1	1		benign(0.01)	p.R433Q	NM_000845	NP_000836		tolerated(0.53)	0,1,1,1	GRM8_HUMAN	GRM8	HGNC	O00222	GRM8_HUMAN			E7ETK3_HUMAN,C9J7I1_HUMAN		6	1609	-		Prostate(267;0.186)	UPI000012F085	433			Extracellular (Potential).		SNV	GRM8,missense_variant,p.Arg433Gln,ENST00000339582,;GRM8,missense_variant,p.Arg433Gln,ENST00000358373,NM_001127323.1;GRM8,missense_variant,p.Arg433Gln,ENST00000444921,NM_000845.2;GRM8,missense_variant,p.Arg433Gln,ENST00000405249,;GRM8,non_coding_transcript_exon_variant,,ENST00000480995,;GRM8,non_coding_transcript_exon_variant,,ENST00000448250,;GRM8,missense_variant,p.Arg433Gln,ENST00000472701,;GRM8,missense_variant,p.Arg433Gln,ENST00000341617,;	uc003vlr.2	c.1298G>A	2107/4057	1	1			c.1298G>A						7	SNP	c.(1297-1299)CGA>CAA	5	5			lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23	Broad	glutamate receptor, metabotropic 8 isoform a		L-Glutamic Acid(DB00142)	126409978		0.403	ENSG00000179603	6682	g.chr7:126409978C>T	negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane								56.063152	KEEP	17	15	-1	90	80	17	15	-1	74.83899	90	80	0.164773	1	0	0	0	0	1	0	0	0	--	--	HNSCC(24;0.065)	0	T			GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.R433Q|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Missense_Mutation_p.R154Q	175	GBM-19-5955-TP	p.R433Q	C	GGTACTCATTCGTGGACAAAG	NM_000845	NP_000836	126409978	O00222	GRM8_HUMAN	0			6	1609	-	T	T		Prostate(267;0.186)	Missense_Mutation	433			Extracellular (Potential).			
GRM8	0	broad.mit.edu	GRCh37	7	126249517	126249517	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01	TCGA-28-2514-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339582.2:c.1393G>A	p.Gly465Arg	p.G465R	ENST00000339582		465	Gga/Aga	0			1			T	G/R	uc003vlr.2	protein_coding	YES	CCDS5794.1			1393/2727									lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23	c.(1393-1395)GGA>AGA			Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF26,Superfamily_domains:SSF53822	glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)			ENSP00000344173		11-Aug	8.24E-06	9.62E-05							rs760631675,COSM3411549,COSM3411550,COSM3411551	11-Aug	.		ENST00000339582	Transcript			negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		ENSG00000179603	g.chr7:126249517C>T	4600			MODERATE		3.81	high	getma.org/?cm=msa&ty=f&p=GRM8_HUMAN&rb=74&re=478&var=G465R	getma.org/pdb.php?prot=GRM8_HUMAN&from=74&to=478&var=G465R	getma.org/?cm=var&var=hg19,7,126249517,C,T&fts=all	G465R	--	--	1				HNSCC(24;0.065)																														GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.G465R|GRM8_uc010lkz.1_RNA	0,1,1,1	1		probably_damaging(0.99)	p.G465R	NM_000845	NP_000836		deleterious(0.02)	0,1,1,1	GRM8_HUMAN	GRM8	HGNC	O00222	GRM8_HUMAN			E7ETK3_HUMAN,C9J7I1_HUMAN		7	1704	-		Prostate(267;0.186)	UPI000012F085	465			Extracellular (Potential).		SNV	GRM8,missense_variant,p.Gly465Arg,ENST00000339582,;GRM8,missense_variant,p.Gly465Arg,ENST00000358373,NM_001127323.1;GRM8,missense_variant,p.Gly465Arg,ENST00000444921,NM_000845.2;GRM8,synonymous_variant,p.=,ENST00000405249,;GRM8,intron_variant,,ENST00000480995,;GRM8,missense_variant,p.Gly465Arg,ENST00000472701,;GRM8,synonymous_variant,p.=,ENST00000341617,;	uc003vlr.2	c.1393G>A	2202/4057	2	2			c.1393G>A						7	SNP	c.(1393-1395)GGA>AGA	30	30			lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23	Broad	glutamate receptor, metabotropic 8 isoform a		L-Glutamic Acid(DB00142)	126249517		0.378	ENSG00000179603	6682	g.chr7:126249517C>T	negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane								279.747331	KEEP	45	52	-1	47	50	45	52	-1	279.748506	47	50	0.497238	1	0	0	0	0	1	0	0	0	--	--	HNSCC(24;0.065)	0	T			GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.G465R|GRM8_uc010lkz.1_RNA	214	GBM-28-2514-TP	p.G465R	C	GGAGCATCTCCGTTTTCATTA	NM_000845	NP_000836	126249517	O00222	GRM8_HUMAN	0			7	1704	-	T	T		Prostate(267;0.186)	Missense_Mutation	465			Extracellular (Potential).			
GRM8	0	broad.mit.edu	GRCh37	7	126882860	126882860	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-76-4925-01	TCGA-76-4925-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339582.2:c.399T>C	p.Cys133=	p.C133=	ENST00000339582		133	tgT/tgC	0			1			G	C	uc003vlr.2	protein_coding	YES	CCDS5794.1			399/2727									lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23	c.(397-399)TGT>TGC			Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF26,Superfamily_domains:SSF53822	glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)			ENSP00000344173		11-Feb									COSM2157463,COSM3411561,COSM2157464	11-Feb	.		ENST00000339582	Transcript			negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		ENSG00000179603	g.chr7:126882860A>G	4600			LOW								--	--	1				HNSCC(24;0.065)																														GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.C133C|GRM8_uc010lkz.1_RNA	1,1,1	1			p.C133C	NM_000845	NP_000836			1,1,1	GRM8_HUMAN	GRM8	HGNC	O00222	GRM8_HUMAN			E7ETK3_HUMAN,C9J7I1_HUMAN		1	710	-		Prostate(267;0.186)	UPI000012F085	133			Extracellular (Potential).		SNV	GRM8,synonymous_variant,p.=,ENST00000339582,;GRM8,synonymous_variant,p.=,ENST00000358373,NM_001127323.1;GRM8,synonymous_variant,p.=,ENST00000444921,NM_000845.2;GRM8,synonymous_variant,p.=,ENST00000405249,;GRM8,synonymous_variant,p.=,ENST00000457830,;GRM8,downstream_gene_variant,,ENST00000412160,;GRM8,synonymous_variant,p.=,ENST00000472701,;GRM8,synonymous_variant,p.=,ENST00000341617,;	uc003vlr.2	c.399T>C	1208/4057	4	4			c.399T>C						7	SNP	c.(397-399)TGT>TGC	29	29			lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23	Broad	glutamate receptor, metabotropic 8 isoform a		L-Glutamic Acid(DB00142)	126882860		0.483	ENSG00000179603	6682	g.chr7:126882860A>G	negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane								184.822008	KEEP	29	38	-1	86	97	29	38	-1	195.623649	86	97	0.273504	1	0	0	0	0	0	0	1	0	--	--	HNSCC(24;0.065)	0	G			GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.C133C|GRM8_uc010lkz.1_RNA	265	GBM-76-4925-TP	p.C133C	A	CTCCATTAGCACACTTCACAT	NM_000845	NP_000836	126882860	O00222	GRM8_HUMAN	0			1	710	-	G	G		Prostate(267;0.186)	Silent	133			Extracellular (Potential).			
GRM8	2918		GRCh37	7	126173900	126173900	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000339582.2:c.1536G>A	p.Pro512=	p.P512=	ENST00000339582		512	ccG/ccA	0																																																																																																																																																																																																																																												
GRPR	2925	broad.mit.edu	GRCh37	X	16142187	16142187	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380289.2:c.111G>A	p.Pro37=	p.P37=	ENST00000380289	NM_005314.2	37	ccG/ccA	0			1			A	P	uc004cxj.2	protein_coding	YES	CCDS14174.1			111/1155									ovary(3)|lung(1)	4	c.(109-111)CCG>CCA			Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF116	gastrin-releasing peptide receptor				ENSP00000369643		3-Jan									COSM3406197	3-Jan	.		ENST00000380289	Transcript			cell proliferation	integral to plasma membrane	bombesin receptor activity	ENSG00000126010	g.chrX:16142187G>A	4609			LOW								--	--	1																																OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1	1			p.P37P	NM_005314	NP_005305			1	GRPR_HUMAN	GRPR	HGNC	P30550	GRPR_HUMAN					1	764	+	Hepatocellular(33;0.183)		UPI00000503FE	37			Extracellular (Potential).		SNV	GRPR,synonymous_variant,p.=,ENST00000380289,NM_005314.2;	uc004cxj.2	c.111G>A	509/1929	2	2			c.111G>A						23	SNP	c.(109-111)CCG>CCA	48	48			ovary(3)|lung(1)	4	Broad	gastrin-releasing peptide receptor			16142187		0.488	ENSG00000126010	6687	g.chrX:16142187G>A	cell proliferation	integral to plasma membrane	bombesin receptor activity							610.658752	KEEP	94	101	-1	46	46	94	101	-1	618.017163	46	46	0.678161	1	0	0	0	0	0	0	1	0	--	--		0	A	OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		8	GBM-02-2486-TP	p.P37P	G	GGTCCCACCCGGGGATCCTCT	NM_005314	NP_005305	16142187	P30550	GRPR_HUMAN	0			1	764	+	A	A	Hepatocellular(33;0.183)		Silent	37			Extracellular (Potential).			
GRPR	0	broad.mit.edu	GRCh37	X	16142166	16142166	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0740-01	TCGA-14-0740-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380289.2:c.90G>A	p.Val30=	p.V30=	ENST00000380289	NM_005314.2	30	gtG/gtA	0			1			A	V	uc004cxj.2	protein_coding	YES	CCDS14174.1			90/1155									ovary(3)|lung(1)	4	c.(88-90)GTG>GTA			Prints_domain:PR00640,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF116	gastrin-releasing peptide receptor				ENSP00000369643		3-Jan									COSM3406196	3-Jan	.		ENST00000380289	Transcript			cell proliferation	integral to plasma membrane	bombesin receptor activity	ENSG00000126010	g.chrX:16142166G>A	4609			LOW								--	--	1																																OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1	1			p.V30V	NM_005314	NP_005305			1	GRPR_HUMAN	GRPR	HGNC	P30550	GRPR_HUMAN					1	743	+	Hepatocellular(33;0.183)		UPI00000503FE	30			Extracellular (Potential).		SNV	GRPR,synonymous_variant,p.=,ENST00000380289,NM_005314.2;	uc004cxj.2	c.90G>A	488/1929	1	1			c.90G>A						23	SNP	c.(88-90)GTG>GTA	62	62			ovary(3)|lung(1)	4	Broad	gastrin-releasing peptide receptor			16142166		0.478	ENSG00000126010	6687	g.chrX:16142166G>A	cell proliferation	integral to plasma membrane	bombesin receptor activity							-28.633074	KEEP	2	2	-1	79	73	2	2	-1	6.496716	79	73	0.027972	1	0	0	0	0	0	0	1	0	--	--		0	A	OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		132	GBM-14-0740-TP	p.V30V	G	ATCTCCCCGTGAACGATGACT	NM_005314	NP_005305	16142166	P30550	GRPR_HUMAN	0			1	743	+	A	A	Hepatocellular(33;0.183)		Silent	30			Extracellular (Potential).			
GRTP1	0	broad.mit.edu	GRCh37	13	114009782	114009782	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6700-01	TCGA-06-6700-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375431.4:c.196C>T	p.Arg66Trp	p.R66W	ENST00000375431	NM_024719.2	66	Cgg/Tgg	0	A:0		1			A	R/W	uc001vtn.2	protein_coding	YES	CCDS9534.2			196/1011										0	c.(196-198)CGG>TGG			hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF232,Gene3D:2qq8A02,SMART_domains:SM00164,Superfamily_domains:SSF47923	growth hormone regulated TBC protein 1			A:0.0001	ENSP00000364580		8-Mar	2.47E-05					4.72E-05			rs376648575,COSM945593,COSM3399252	8-Mar	.		ENST00000375431	Transcript				intracellular	Rab GTPase activator activity	ENSG00000139835	g.chr13:114009782G>A	20310			MODERATE		3.475	medium	getma.org/?cm=msa&ty=f&p=GRTP1_HUMAN&rb=1&re=70&var=R66W	NA	getma.org/?cm=var&var=hg19,13,114009782,G,A&fts=all	R66W	--	--	1																																		GRTP1_uc010tkb.1_5'UTR|GRTP1_uc010tkc.1_Missense_Mutation_p.R66W|GRTP1_uc010agv.1_RNA	0,1,1	1		probably_damaging(1)	p.R66W	NM_024719	NP_078995		deleterious(0)	0,1,1	GRTP1_HUMAN	GRTP1	HGNC	Q5TC63	GRTP1_HUMAN	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)				3	293	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	UPI00003E2A97	66					SNV	GRTP1,missense_variant,p.Arg66Trp,ENST00000375430,NM_001286732.1;GRTP1,missense_variant,p.Arg66Trp,ENST00000375431,NM_024719.2;GRTP1,upstream_gene_variant,,ENST00000326039,;GRTP1-AS1,non_coding_transcript_exon_variant,,ENST00000419199,;GRTP1-AS1,intron_variant,,ENST00000423246,;GRTP1,downstream_gene_variant,,ENST00000476439,;	uc001vtn.2	c.196C>T	271/1384	2	2			c.196C>T						13	SNP	c.(196-198)CGG>TGG	39	39				0	Broad	growth hormone regulated TBC protein 1			114009782		0.657	ENSG00000139835	6689	g.chr13:114009782G>A		intracellular	Rab GTPase activator activity							7.749649	KEEP	3	3	-1	19	20	3	3	-1	12.523623	19	20	0.135135	1	0	0	0	0	1	0	0	0	--	--		0	A			GRTP1_uc010tkb.1_5'UTR|GRTP1_uc010tkc.1_Missense_Mutation_p.R66W|GRTP1_uc010agv.1_RNA	114	GBM-06-6700-TP	p.R66W	G	ACCCCTTTCCGGACATAGCGC	NM_024719	NP_078995	114009782	Q5TC63	GRTP1_HUMAN	0	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)		3	293	-	A	A	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	Missense_Mutation	66						
GSDMA	284110	broad.mit.edu	GRCh37	17	38122551	38122551	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-02-0047-01	TCGA-02-0047-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301659.4:c.253C>T	p.Leu85=	p.L85=	ENST00000301659	NM_178171.4	85	Ctg/Ttg	0			1			T	L	uc002htl.1	protein_coding	YES	CCDS45669.1			253/1338										0	c.(253-255)CTG>TTG			hmmpanther:PTHR16399,hmmpanther:PTHR16399:SF18,Pfam_domain:PF04598	gasdermin 1				ENSP00000301659		12-Mar									COSM2148995,COSM3402836	12-Mar	.		ENST00000301659	Transcript			apoptosis|induction of apoptosis	perinuclear region of cytoplasm		ENSG00000167914	g.chr17:38122551C>T	13311			LOW								--	--	1																																		GSDMA_uc002htm.1_Silent_p.L85L	1,1	1			p.L85L	NM_178171	NP_835465			1,1	GSDMA_HUMAN	GSDMA	HGNC	Q96QA5	GSDMA_HUMAN			J3KRG2_HUMAN		3	371	+			UPI0000140D2A	85					SNV	GSDMA,synonymous_variant,p.=,ENST00000301659,NM_178171.4;GSDMA,synonymous_variant,p.=,ENST00000577447,;	uc002htl.1	c.253C>T	371/2164	2	2			c.253C>T						17	SNP	c.(253-255)CTG>TTG	47	47				0	Broad	gasdermin 1			38122551		0.463	ENSG00000167914	6694	g.chr17:38122551C>T	apoptosis|induction of apoptosis	perinuclear region of cytoplasm								105.101694	KEEP	20	26	-1	39	63	20	26	-1	108.964915	39	63	0.311475	1	0	0	0	0	0	0	1	0	--	--		0	T			GSDMA_uc002htm.1_Silent_p.L85L	3	GBM-02-0047-TP	p.L85L	C	TAAGAATATGCTGGACACCCG	NM_178171	NP_835465	38122551	Q96QA5	GSDMA_HUMAN	0			3	371	+	T	T			Silent	85						
GSDMA	284110	broad.mit.edu	GRCh37	17	38133285	38133285	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01	TCGA-06-2558-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301659.4:c.1312C>T	p.Leu438Phe	p.L438F	ENST00000301659	NM_178171.4	438	Ctt/Ttt	0			1			T	L/F	uc002htl.1	protein_coding	YES	CCDS45669.1			1312/1338										0	c.(1312-1314)CTT>TTT			hmmpanther:PTHR16399,hmmpanther:PTHR16399:SF18	gasdermin 1				ENSP00000301659		12-Dec									COSM3402838,COSM3402837	12-Dec	.		ENST00000301659	Transcript			apoptosis|induction of apoptosis	perinuclear region of cytoplasm		ENSG00000167914	g.chr17:38133285C>T	13311			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=GSDMA_HUMAN&rb=391&re=445&var=L438F	NA	getma.org/?cm=var&var=hg19,17,38133285,C,T&fts=all	L438F	--	--	1																																		GSDMA_uc002htm.1_Missense_Mutation_p.L438F	1,1	1		benign(0.027)	p.L438F	NM_178171	NP_835465		tolerated(0.26)	1,1	GSDMA_HUMAN	GSDMA	HGNC	Q96QA5	GSDMA_HUMAN			J3KRG2_HUMAN		12	1430	+			UPI0000140D2A	438					SNV	GSDMA,missense_variant,p.Leu438Phe,ENST00000301659,NM_178171.4;PSMD3,upstream_gene_variant,,ENST00000264639,NM_002809.3;PSMD3,upstream_gene_variant,,ENST00000541736,;PSMD3,upstream_gene_variant,,ENST00000415039,;	uc002htl.1	c.1312C>T	1430/2164	2	2			c.1312C>T						17	SNP	c.(1312-1314)CTT>TTT	46	46				0	Broad	gasdermin 1			38133285		0.557	ENSG00000167914	6694	g.chr17:38133285C>T	apoptosis|induction of apoptosis	perinuclear region of cytoplasm								38.996037	KEEP	11	15	-1	73	79	11	15	-1	57.617129	73	79	0.136986	1	0	0	0	0	1	0	0	0	--	--		0	T			GSDMA_uc002htm.1_Missense_Mutation_p.L438F	82	GBM-06-2558-TP	p.L438F	C	CCTCTCTCTCCTTCAGCAGCT	NM_178171	NP_835465	38133285	Q96QA5	GSDMA_HUMAN	0			12	1430	+	T	T			Missense_Mutation	438						
GSDMC	0	broad.mit.edu	GRCh37	8	130762682	130762682	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-5207-01	TCGA-28-5207-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276708.4:c.1078A>G	p.Asn360Asp	p.N360D	ENST00000276708	NM_031415.2	360	Aac/Gac	0			1			C	N/D	uc003ysr.2	protein_coding	YES	CCDS6360.1			1078/1527									ovary(2)|skin(1)	3	c.(1078-1080)AAC>GAC			Pfam_domain:PF04598,hmmpanther:PTHR16399,hmmpanther:PTHR16399:SF17	melanoma-derived leucine zipper, extra-nuclear				ENSP00000276708		14-Nov									COSM3412751	14-Nov	.		ENST00000276708	Transcript				mitochondrion		ENSG00000147697	g.chr8:130762682T>C	7151			MODERATE		-0.55	neutral	getma.org/?cm=msa&ty=f&p=GSDMC_HUMAN&rb=4&re=484&var=N360D	NA	getma.org/?cm=var&var=hg19,8,130762682,T,C&fts=all	N360D	--	--	1																																			1	1		benign(0)	p.N360D	NM_031415	NP_113603		tolerated(1)	1	GSDMC_HUMAN	GSDMC	HGNC	Q9BYG8	GSDMC_HUMAN					11	1960	-			UPI0000071445	360					SNV	GSDMC,missense_variant,p.Asn360Asp,ENST00000276708,NM_031415.2;GSDMC,non_coding_transcript_exon_variant,,ENST00000522273,;GSDMC,downstream_gene_variant,,ENST00000521365,;	uc003ysr.2	c.1078A>G	1960/2714	3	3			c.1078A>G						8	SNP	c.(1078-1080)AAC>GAC	49	49			ovary(2)|skin(1)	3	Broad	melanoma-derived leucine zipper, extra-nuclear			130762682		0.468	ENSG00000147697	6696	g.chr8:130762682T>C		mitochondrion								-25.024553	KEEP	3	1	-1	65	94	3	1	-1	9.797595	65	94	0.028169	1	0	0	0	0	1	0	0	0	--	--		0	C				216	GBM-28-5207-TP	p.N360D	T	CTCACCATGTTCATCAGGTCC	NM_031415	NP_113603	130762682	Q9BYG8	GSDMC_HUMAN	0			11	1960	-	C	C			Missense_Mutation	360						
GSE1	0	broad.mit.edu	GRCh37	16	85701868	85701868	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-41-2571-01	TCGA-41-2571-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000253458.7:c.3258delC	p.Thr1087LeufsTer51	p.T1087Lfs*51	ENST00000253458	NM_014615.3	1085	Ccc/cc	0			1			-	P/X	uc002fix.2	protein_coding	YES	CCDS10952.1			3253/3654									large_intestine(3)|ovary(1)|skin(1)	5	c.(3253-3255)CCCfs			hmmpanther:PTHR17608,hmmpanther:PTHR17608:SF3	genetic suppressor element 1 isoform 1				ENSP00000253458		14/16										14/16	.		ENST00000253458	Transcript					protein binding	ENSG00000131149	g.chr16:85701868delC	28979	5		HIGH								--	--	1																																		KIAA0182_uc002fiw.2_Frame_Shift_Del_p.P981fs|KIAA0182_uc002fiy.2_Frame_Shift_Del_p.P1012fs|KIAA0182_uc002fiz.2_Frame_Shift_Del_p.P227fs|KIAA0182_uc010cho.2_Frame_Shift_Del_p.P265fs		1			p.P1085fs	NM_014615	NP_055430				GSE1_HUMAN	GSE1	HGNC	Q14687	GSE1_HUMAN			C9JLW9_HUMAN		14	3327	+			UPI0000185F04	1085					deletion	GSE1,frameshift_variant,p.Thr1087LeufsTer51,ENST00000253458,NM_014615.3;GSE1,frameshift_variant,p.Thr1014LeufsTer51,ENST00000393243,NM_001278184.1;GSE1,frameshift_variant,p.Thr856LeufsTer51,ENST00000412692,;GSE1,frameshift_variant,p.Thr983LeufsTer51,ENST00000405402,NM_001134473.2;GSE1,frameshift_variant,p.Thr289LeufsTer51,ENST00000438180,;GSE1,upstream_gene_variant,,ENST00000471070,;GSE1,non_coding_transcript_exon_variant,,ENST00000469381,;GSE1,downstream_gene_variant,,ENST00000562659,;GSE1,downstream_gene_variant,,ENST00000479488,;GSE1,downstream_gene_variant,,ENST00000495192,;GSE1,upstream_gene_variant,,ENST00000496345,;	uc002fix.2	c.3253delC	3429/7495	5	5			c.3253delC						16	DEL	c.(3253-3255)CCCfs	47	47			large_intestine(3)|ovary(1)|skin(1)	5	Broad	genetic suppressor element 1 isoform 1			85701868		0.483	ENSG00000131149	8020	g.chr16:85701868delC			protein binding																				0.35	1	1	0	1	0	0	0	0	0	--	--		0	-			KIAA0182_uc002fiw.2_Frame_Shift_Del_p.P981fs|KIAA0182_uc002fiy.2_Frame_Shift_Del_p.P1012fs|KIAA0182_uc002fiz.2_Frame_Shift_Del_p.P227fs|KIAA0182_uc010cho.2_Frame_Shift_Del_p.P265fs	250	GBM-41-2571-TP	p.P1085fs	C	GCAGCAGGAGCCCCCCACTGC	NM_014615	NP_055430	85701868	Q14687	GSE1_HUMAN	0			14	3327	+	-	-			Frame_Shift_Del	1085						
GSK3B	0	broad.mit.edu	GRCh37	3	119812236	119812236	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-27-1831-01	TCGA-27-1831-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264235.8:c.46C>G	p.Pro16Ala	p.P16A	ENST00000264235	NM_001146156.1	16	Ccg/Gcg	0			1			C	P/A	uc003edo.2	protein_coding		CCDS54628.1			46/1263									lung(2)	2	c.(46-48)CCG>GCG			hmmpanther:PTHR24057,hmmpanther:PTHR24057:SF8	glycogen synthase kinase 3 beta isoform 2	Lithium(DB01356)			ENSP00000264235		11-Jan									COSM3408152,COSM3408153	11-Jan	.		ENST00000264235	Transcript			axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding	ENSG00000082701	g.chr3:119812236G>C	4617			MODERATE		1.32	low	getma.org/?cm=msa&ty=f&p=GSK3B_HUMAN&rb=1&re=55&var=P16A	NA	getma.org/?cm=var&var=hg19,3,119812236,G,C&fts=all	P16A	--	--	1																																		GSK3B_uc003edn.2_Missense_Mutation_p.P16A|uc003edp.2_5'Flank	1,1			benign(0)	p.P16A	NM_001146156	NP_001139628		tolerated_low_confidence(0.37)	1,1	GSK3B_HUMAN	GSK3B	HGNC	P49841	GSK3B_HUMAN		GBM - Glioblastoma multiforme(114;0.24)	Q6FI27_HUMAN		1	1029	-			UPI000004DAA4	16					SNV	GSK3B,missense_variant,p.Pro16Ala,ENST00000264235,NM_001146156.1,NM_002093.3;GSK3B,missense_variant,p.Pro16Ala,ENST00000316626,;RP11-18H7.1,upstream_gene_variant,,ENST00000469070,;RP11-18H7.1,upstream_gene_variant,,ENST00000484076,;RP11-18H7.1,upstream_gene_variant,,ENST00000485898,;	uc003edo.2	c.46C>G	1029/7711	3	3			c.46C>G						3	SNP	c.(46-48)CCG>GCG	13	13			lung(2)	2	Broad	glycogen synthase kinase 3 beta isoform 2		Lithium(DB01356)	119812236		0.483	ENSG00000082701	6702	g.chr3:119812236G>C	axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			159			159	-44.728046	KEEP	2	4	-1	131	150	2	4	-1	8.647082	131	150	0.019417	1	0	0	0	0	1	0	0	0	--	--		0	C			GSK3B_uc003edn.2_Missense_Mutation_p.P16A|uc003edp.2_5'Flank	190	GBM-27-1831-TP	p.P16A	G	TGCTGCACCGGCTTGCAGCTC	NM_001146156	NP_001139628	119812236	P49841	GSK3B_HUMAN	0		GBM - Glioblastoma multiforme(114;0.24)	1	1029	-	C	C			Missense_Mutation	16						
GSN	2934	broad.mit.edu	GRCh37	9	124062285	124062285	+	splice_donor_variant	Splice_Site	SNP	T	T	G			TCGA-06-5412-01	TCGA-06-5412-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373818.4:c.144+2T>G		p.X48_splice	ENST00000373818	NM_000177.4	48		0			1			G		uc004blf.1	protein_coding	YES	CCDS6828.1			144/2349									breast(2)|ovary(1)	3	c.e1+2				gelsolin isoform a precursor				ENSP00000362924			0.0046	0.00221	0.000562	0.00201	0.0944	0.00289	0.0133	0.00106	rs779039279,COSM1285287		common_variant		ENST00000373818	Transcript	1		actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	ENSG00000148180	g.chr9:124062285T>G	4620			HIGH	16-Jan							--	--	1																																		GSN_uc004bld.1_Intron|GSN_uc010mvq.1_Intron|GSN_uc010mvr.1_Intron|GSN_uc010mvu.1_Intron|GSN_uc010mvt.1_Intron|GSN_uc010mvs.1_Intron|GSN_uc004ble.1_Intron|GSN_uc010mvv.1_Intron|GSN_uc011lyh.1_Intron|GSN_uc011lyi.1_Intron|GSN_uc011lyj.1_5'Flank	0,1	1			p.R48_splice	NM_000177	NP_000168			0,1	GELS_HUMAN	GSN	HGNC	P06396	GELS_HUMAN			Q5T0I0_HUMAN		1	205	+			UPI000012B3B4						SNV	GSN,splice_donor_variant,,ENST00000373818,NM_000177.4,NM_001258029.1;GSN,intron_variant,,ENST00000373823,;GSN,intron_variant,,ENST00000449733,NM_001127663.1;GSN,intron_variant,,ENST00000412819,NM_001127664.1;GSN,intron_variant,,ENST00000436847,NM_001127666.1;GSN,intron_variant,,ENST00000394353,NM_001127667.1;GSN,intron_variant,,ENST00000341272,NM_001127665.1,NM_198252.2;GSN,intron_variant,,ENST00000373808,NM_001127662.1;GSN,intron_variant,,ENST00000545652,NM_001258030.1;GSN,intron_variant,,ENST00000432226,;GSN,intron_variant,,ENST00000449773,;GSN,intron_variant,,ENST00000475428,;GSN,intron_variant,,ENST00000477104,;GSN,intron_variant,,ENST00000483960,;GSN,intron_variant,,ENST00000477863,;	uc004blf.1	c.144_splice	-/2657	5	3			c.144_splice						9	SNP	c.e1+2	13	13			breast(2)|ovary(1)	3	Broad	gelsolin isoform a precursor			124062285		0.348	ENSG00000148180	6703	g.chr9:124062285T>G	actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding							5.313474	KEEP	5	10	-1	8	11	5	10	-1	6.439973	8	11	0.296296	1	0	0	0	0	0	0	0	1	--	--		0	G			GSN_uc004bld.1_Intron|GSN_uc010mvq.1_Intron|GSN_uc010mvr.1_Intron|GSN_uc010mvu.1_Intron|GSN_uc010mvt.1_Intron|GSN_uc010mvs.1_Intron|GSN_uc004ble.1_Intron|GSN_uc010mvv.1_Intron|GSN_uc011lyh.1_Intron|GSN_uc011lyi.1_Intron|GSN_uc011lyj.1_5'Flank	95	GBM-06-5412-TP	p.R48_splice	T	gaggcgcgggtgagtgcccgg	NM_000177	NP_000168	124062285	P06396	GELS_HUMAN	0			1	205	+	G	G			Splice_Site							
GSPT2	0	broad.mit.edu	GRCh37	X	51487380	51487380	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01	TCGA-14-1450-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340438.4:c.658G>A	p.Gly220Arg	p.G220R	ENST00000340438	NM_018094.4	220	Gga/Aga	0			1			A	G/R	uc004dpl.2	protein_coding	YES	CCDS14336.1			658/1887									ovary(1)	1	c.(658-660)GGA>AGA			Gene3D:3.40.50.300,Pfam_domain:PF00009,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF119,Superfamily_domains:SSF52540	peptide chain release factor 3				ENSP00000341247		1-Jan									COSM3406459	1-Jan	.		ENST00000340438	Transcript	1		cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding	ENSG00000189369	g.chrX:51487380G>A	4622			MODERATE		3.35	medium	getma.org/?cm=msa&ty=f&p=ERF3B_HUMAN&rb=201&re=473&var=G220R	getma.org/pdb.php?prot=ERF3B_HUMAN&from=201&to=473&var=G220R	getma.org/?cm=var&var=hg19,X,51487380,G,A&fts=all	G220R	--	--	1																																			1	1		probably_damaging(0.953)	p.G220R	NM_018094	NP_060564		deleterious(0)	1	ERF3B_HUMAN	GSPT2	HGNC	Q8IYD1	ERF3B_HUMAN					1	884	+	Ovarian(276;0.236)		UPI0000073899	220					SNV	GSPT2,missense_variant,p.Gly220Arg,ENST00000340438,NM_018094.4;	uc004dpl.2	c.658G>A	900/2844	2	2			c.658G>A						23	SNP	c.(658-660)GGA>AGA	36	36			ovary(1)	1	Broad	peptide chain release factor 3			51487380		0.398	ENSG00000189369	6705	g.chrX:51487380G>A	cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding							41.30862	KEEP	6	12	-1	14	21	6	12	-1	42.674593	14	21	0.319149	1	0	0	0	0	1	0	0	0	--	--		0	A				145	GBM-14-1450-TP	p.G220R	G	GTCAACCATCGGAGGACAGAT	NM_018094	NP_060564	51487380	Q8IYD1	ERF3B_HUMAN	0			1	884	+	A	A	Ovarian(276;0.236)		Missense_Mutation	220						
GSTA1	0	broad.mit.edu	GRCh37	6	52658945	52658945	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-87-5896-01	TCGA-87-5896-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334575.5:c.392G>A	p.Arg131His	p.R131H	ENST00000334575	NM_145740.3	131	cGc/cAc	0	T:0		1			T	R/H	uc003paz.2	protein_coding	YES	CCDS4945.1			392/669									ovary(1)	1	c.(391-393)CGC>CAC			PROSITE_profiles:PS50405,hmmpanther:PTHR11571,hmmpanther:PTHR11571:SF115,Gene3D:1.20.1050.10,Pfam_domain:PF00043,Superfamily_domains:SSF47616	glutathione S-transferase alpha 1	Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)		T:0.0001	ENSP00000335620		7-May	2.47E-05		0.000173			1.50E-05			rs374431368,COSM3355168	7-May	.		ENST00000334575	Transcript			glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	ENSG00000243955	g.chr6:52658945C>T	4626			MODERATE		2.775	medium	getma.org/?cm=msa&ty=f&p=GSTA1_HUMAN&rb=99&re=192&var=R131H	getma.org/pdb.php?prot=GSTA1_HUMAN&from=99&to=192&var=R131H	getma.org/?cm=var&var=hg19,6,52658945,C,T&fts=all	R131H	--	--	1																																			0,1	1		benign(0.056)	p.R131H	NM_145740	NP_665683		tolerated(0.07)	0,1	GSTA1_HUMAN	GSTA1	HGNC	P08263	GSTA1_HUMAN					5	504	-	Lung NSC(77;0.118)		UPI000013DA34	131			GST C-terminal.		SNV	GSTA1,missense_variant,p.Arg131His,ENST00000334575,NM_145740.3;GSTA1,non_coding_transcript_exon_variant,,ENST00000493331,;GSTA1,non_coding_transcript_exon_variant,,ENST00000476213,;	uc003paz.2	c.392G>A	548/1019	1	1			c.392G>A						6	SNP	c.(391-393)CGC>CAC	15	15			ovary(1)	1	Broad	glutathione S-transferase alpha 1		Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	52658945		0.438	ENSG00000243955	6708	g.chr6:52658945C>T	glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity							233.804375	KEEP	50	53	-1	87	87	50	53	-1	239.102512	87	87	0.34413	1	0	0	0	0	1	0	0	0	--	--		0	T				291	GBM-87-5896-TP	p.R131H	C	AGGGAAGTAGCGATTTTTTAT	NM_145740	NP_665683	52658945	P08263	GSTA1_HUMAN	0			5	504	-	T	T	Lung NSC(77;0.118)		Missense_Mutation	131			GST C-terminal.			
GSTA4	2941	broad.mit.edu	GRCh37	6	52850344	52850344	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0877-01	TCGA-06-0877-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370963.4:c.177A>C	p.Glu59Asp	p.E59D	ENST00000370963	NM_001512.3	59	gaA/gaC	0			1			G	E/D	uc003pbc.2	protein_coding		CCDS4948.1			177/669										0	c.(175-177)GAA>GAC			Superfamily_domains:SSF52833,Gene3D:3.40.30.10,Pfam_domain:PF02798,hmmpanther:PTHR11571:SF123,hmmpanther:PTHR11571,PROSITE_profiles:PS50404	glutathione S-transferase alpha 4	Glutathione(DB00143)			ENSP00000359998		7-Apr									COSM2152135	7-Apr	.		ENST00000370959	Transcript			glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity	ENSG00000170899	g.chr6:52850344T>G	4629			MODERATE		3.165	medium	getma.org/?cm=msa&ty=f&p=GSTA4_HUMAN&rb=5&re=77&var=E59D	getma.org/pdb.php?prot=GSTA4_HUMAN&from=5&to=77&var=E59D	getma.org/?cm=var&var=hg19,6,52850344,T,G&fts=all	E59D	--	--	1																																		GSTA4_uc003pbd.2_5'UTR|GSTA4_uc003pbe.2_Intron|GSTA4_uc003pbf.2_Missense_Mutation_p.E59D	1			probably_damaging(0.977)	p.E59D	NM_001512	NP_001503		deleterious(0.01)	1	GSTA4_HUMAN	GSTA4	HGNC	O15217	GSTA4_HUMAN			Q6P4G1_HUMAN,Q5JW88_HUMAN,B3KNR3_HUMAN		3	241	-	Lung NSC(77;0.103)		UPI00001119FD	59			GST N-terminal.		SNV	GSTA4,missense_variant,p.Glu59Asp,ENST00000370963,NM_001512.3;GSTA4,missense_variant,p.Glu59Asp,ENST00000370959,;GSTA4,5_prime_UTR_variant,,ENST00000541324,;GSTA4,intron_variant,,ENST00000370960,;GSTA4,intron_variant,,ENST00000457564,;GSTA4,non_coding_transcript_exon_variant,,ENST00000486559,;GSTA4,intron_variant,,ENST00000477599,;	uc003pbc.2	c.177A>C	295/793	3	3			c.177A>C						6	SNP	c.(175-177)GAA>GAC	4	4				0	Broad	glutathione S-transferase alpha 4		Glutathione(DB00143)	52850344		0.468	ENSG00000170899	6711	g.chr6:52850344T>G	glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity							206.545883	KEEP	37	29	-1	65	70	37	29	-1	211.096069	65	70	0.331492	1	0	0	0	0	1	0	0	0	--	--		0	G			GSTA4_uc003pbd.2_5'UTR|GSTA4_uc003pbe.2_Intron|GSTA4_uc003pbf.2_Missense_Mutation_p.E59D	73	GBM-06-0877-TP	p.E59D	T	TCCCGTCAATTTCAACCATGG	NM_001512	NP_001503	52850344	O15217	GSTA4_HUMAN	0			3	241	-	G	G	Lung NSC(77;0.103)		Missense_Mutation	59			GST N-terminal.			
GSTA4	0	broad.mit.edu	GRCh37	6	52850376	52850376	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01	TCGA-19-2625-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370959.1:c.145C>T	p.His49Tyr	p.H49Y	ENST00000370959		49	Cac/Tac	0			1			A	H/Y	uc003pbc.2	protein_coding		CCDS4948.1			145/669										0	c.(145-147)CAC>TAC			Superfamily_domains:SSF52833,Gene3D:3.40.30.10,Pfam_domain:PF02798,hmmpanther:PTHR11571:SF123,hmmpanther:PTHR11571,PROSITE_profiles:PS50404	glutathione S-transferase alpha 4	Glutathione(DB00143)			ENSP00000359998		7-Apr	8.24E-06							6.11E-05	rs775060558,COSM3411199	7-Apr	.		ENST00000370959	Transcript			glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity	ENSG00000170899	g.chr6:52850376G>A	4629			MODERATE		0.755	neutral	getma.org/?cm=msa&ty=f&p=GSTA4_HUMAN&rb=5&re=77&var=H49Y	getma.org/pdb.php?prot=GSTA4_HUMAN&from=5&to=77&var=H49Y	getma.org/?cm=var&var=hg19,6,52850376,G,A&fts=all	H49Y	--	--	1																																		GSTA4_uc003pbd.2_5'UTR|GSTA4_uc003pbe.2_Intron|GSTA4_uc003pbf.2_Missense_Mutation_p.H49Y	0,1			benign(0.015)	p.H49Y	NM_001512	NP_001503		tolerated(1)	0,1	GSTA4_HUMAN	GSTA4	HGNC	O15217	GSTA4_HUMAN			Q6P4G1_HUMAN,Q5JW88_HUMAN,B3KNR3_HUMAN		3	209	-	Lung NSC(77;0.103)		UPI00001119FD	49			GST N-terminal.		SNV	GSTA4,missense_variant,p.His49Tyr,ENST00000370963,NM_001512.3;GSTA4,missense_variant,p.His49Tyr,ENST00000370959,;GSTA4,5_prime_UTR_variant,,ENST00000541324,;GSTA4,intron_variant,,ENST00000370960,;GSTA4,intron_variant,,ENST00000457564,;GSTA4,non_coding_transcript_exon_variant,,ENST00000486559,;GSTA4,intron_variant,,ENST00000477599,;	uc003pbc.2	c.145C>T	263/793	2	2			c.145C>T						6	SNP	c.(145-147)CAC>TAC	32	32				0	Broad	glutathione S-transferase alpha 4		Glutathione(DB00143)	52850376		0.458	ENSG00000170899	6711	g.chr6:52850376G>A	glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity							129.505433	KEEP	33	19	-1	63	65	33	19	-1	136.230695	63	65	0.283019	1	0	0	0	0	1	0	0	0	--	--		0	A			GSTA4_uc003pbd.2_5'UTR|GSTA4_uc003pbe.2_Intron|GSTA4_uc003pbf.2_Missense_Mutation_p.H49Y	165	GBM-19-2625-TP	p.H49Y	G	AACAGCAGGTGGTTACCTGAG	NM_001512	NP_001503	52850376	O15217	GSTA4_HUMAN	0			3	209	-	A	A	Lung NSC(77;0.103)		Missense_Mutation	49			GST N-terminal.			
GSTA5	221357		GRCh37	6	52699018	52699018	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000370989.2:c.335G>A	p.Cys112Tyr	p.C112Y	ENST00000370989		112	tGt/tAt	0																																																																																																																																																																																																																																												
GSTK1	373156	broad.mit.edu	GRCh37	7	142964771	142964771	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs41275042	byFrequency;by1000genomes	TCGA-06-0209-01	TCGA-06-0209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000479303.1:c.650C>T	p.Thr217Met	p.T217M	ENST00000479303	NM_001143679.1	217	aCg/aTg	0	T:0.0005	T:0	1	T:0		T	T/M	uc003wci.2	protein_coding		CCDS5877.1			482/681										0	c.(481-483)ACG>ATG			Superfamily_domains:SSF52833,PIRSF_domain:PIRSF006386,Pfam_domain:PF01323,Gene3D:3.40.30.10,hmmpanther:PTHR13887	glutathione S-transferase kappa 1 isoform a	Glutathione(DB00143)	T:0	T:0.0006	ENSP00000351181	T:0.001	8-Jun	0.000272	0.000481				0.000375		0.000182	rs41275042,COSM3411719,COSM3411718	8-Jun	common_variant		ENST00000358406	Transcript		T:0.0004		outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity	ENSG00000197448	g.chr7:142964771C>T	16906			MODERATE		2.395	medium	getma.org/?cm=msa&ty=f&p=GSTK1_HUMAN&rb=7&re=211&var=T161M	getma.org/pdb.php?prot=GSTK1_HUMAN&from=7&to=211&var=T161M	getma.org/?cm=var&var=hg19,7,142964771,C,T&fts=all	T161M	--	--	1																																		GSTK1_uc011ksy.1_Missense_Mutation_p.T118M|GSTK1_uc003wcj.2_Missense_Mutation_p.T217M|GSTK1_uc011ksz.1_Missense_Mutation_p.T149M	0,1,1			benign(0.195)	p.T161M	NM_015917	NP_057001	T:0.001	deleterious(0.01)	0,1,1	GSTK1_HUMAN	GSTK1	HGNC	Q9Y2Q3	GSTK1_HUMAN			Q6FII1_HUMAN		6	567	+	Melanoma(164;0.059)		UPI000013C81A	161					SNV	GSTK1,missense_variant,p.Thr217Met,ENST00000479303,NM_001143679.1;GSTK1,missense_variant,p.Thr161Met,ENST00000358406,NM_015917.2;GSTK1,missense_variant,p.Thr149Met,ENST00000409500,NM_001143680.1;GSTK1,missense_variant,p.Thr118Met,ENST00000443571,NM_001143681.1;GSTK1,downstream_gene_variant,,ENST00000436038,;AC073342.12,intron_variant,,ENST00000427392,;GSTK1,downstream_gene_variant,,ENST00000494735,;GSTK1,missense_variant,p.Thr161Met,ENST00000442394,;GSTK1,non_coding_transcript_exon_variant,,ENST00000473649,;GSTK1,downstream_gene_variant,,ENST00000489654,;	uc003wci.2	c.482C>T	553/1044	1	1			c.482C>T						7	SNP	c.(481-483)ACG>ATG	11	11				0	Broad	glutathione S-transferase kappa 1 isoform a		Glutathione(DB00143)	142964771		0.512	ENSG00000197448	6714	g.chr7:142964771C>T		outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity							81.77135	KEEP	20	26	-1	103	89	20	26	-1	102.058538	103	89	0.184332	1	0	0	0	0	1	0	0	0	--	--		0	T			GSTK1_uc011ksy.1_Missense_Mutation_p.T118M|GSTK1_uc003wcj.2_Missense_Mutation_p.T217M|GSTK1_uc011ksz.1_Missense_Mutation_p.T149M	46	GBM-06-0209-TP	p.T161M	C	AAGATCGCAACGCCAAAGGTG	NM_015917	NP_057001	142964771	Q9Y2Q3	GSTK1_HUMAN	0			6	567	+	T	T	Melanoma(164;0.059)		Missense_Mutation	161						
GSX1	0	broad.mit.edu	GRCh37	13	28367747	28367747	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01	TCGA-41-4097-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302945.2:c.457G>A	p.Ala153Thr	p.A153T	ENST00000302945	NM_145657.1	153	Gct/Act	0			1			A	A/T	uc001urr.1	protein_coding	YES	CCDS9326.1			457/795									ovary(1)	1	c.(457-459)GCT>ACT			PROSITE_profiles:PS50071,hmmpanther:PTHR24337,hmmpanther:PTHR24337:SF4,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689	GS homeobox 1				ENSP00000304331		2-Feb									COSM3399302	2-Feb	.		ENST00000302945	Transcript			positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000169840	g.chr13:28367747G>A	20374			MODERATE		0.555	neutral	getma.org/?cm=msa&ty=f&p=GSX1_HUMAN&rb=148&re=204&var=A153T	getma.org/pdb.php?prot=GSX1_HUMAN&from=148&to=204&var=A153T	getma.org/?cm=var&var=hg19,13,28367747,G,A&fts=all	A153T	--	--	1																																			1	1		probably_damaging(1)	p.A153T	NM_145657	NP_663632		deleterious(0)	1	GSX1_HUMAN	GSX1	HGNC	Q9H4S2	GSX1_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)			2	505	+		Lung SC(185;0.0161)	UPI000012BBF5	153			Homeobox.		SNV	GSX1,missense_variant,p.Ala153Thr,ENST00000302945,NM_145657.1;	uc001urr.1	c.457G>A	505/1663	1	1			c.457G>A						13	SNP	c.(457-459)GCT>ACT	49	49			ovary(1)	1	Broad	GS homeobox 1			28367747		0.577	ENSG00000169840	6725	g.chr13:28367747G>A	positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							-9.639052	KEEP	2	1	-1	36	49	2	1	-1	7.182623	36	49	0.040541	1	0	0	0	0	1	0	0	0	--	--		0	A				257	GBM-41-4097-TP	p.A153T	G	GATGCGCACGGCTTTCACCAG	NM_145657	NP_663632	28367747	Q9H4S2	GSX1_HUMAN	0	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)	2	505	+	A	A		Lung SC(185;0.0161)	Missense_Mutation	153			Homeobox.			
GTDC1	79712	broad.mit.edu	GRCh37	2	144899603	144899603	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392869.2:c.367G>A	p.Val123Ile	p.V123I	ENST00000392869	NM_001284234.1	123	Gta/Ata	0			1			T	V/I	uc002tvp.2	protein_coding		CCDS33300.1			367/1377									ovary(1)	1	c.(367-369)GTA>ATA			Pfam_domain:PF12038,hmmpanther:PTHR13615,hmmpanther:PTHR13615:SF1	glycosyltransferase-like domain containing 1				ENSP00000339750		12-Jun									COSM2153362	12-Jun	.		ENST00000344850	Transcript			biosynthetic process		transferase activity, transferring glycosyl groups	ENSG00000121964	g.chr2:144899603C>T	20887			MODERATE		1.62	low	getma.org/?cm=msa&ty=f&p=GTDC1_HUMAN&rb=1&re=167&var=V123I	NA	getma.org/?cm=var&var=hg19,2,144899603,C,T&fts=all	V123I	--	--	1																																		GTDC1_uc002tvo.2_Missense_Mutation_p.V123I|GTDC1_uc002tvq.2_Missense_Mutation_p.V123I|GTDC1_uc002tvr.2_Missense_Mutation_p.V123I|GTDC1_uc010fnn.2_Missense_Mutation_p.V123I|GTDC1_uc002tvs.2_Missense_Mutation_p.V91I|GTDC1_uc010fno.2_5'UTR|GTDC1_uc002tvt.1_Missense_Mutation_p.V123I	1			possibly_damaging(0.759)	p.V123I	NM_001006636	NP_001006637		tolerated(0.17)	1	GTDC1_HUMAN	GTDC1	HGNC	Q4AE62	GTDC1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0914)	G5EA49_HUMAN,G1UFN1_HUMAN,C9JIH3_HUMAN,C9J2C5_HUMAN		6	646	-			UPI000022BC3B	123					SNV	GTDC1,missense_variant,p.Val123Ile,ENST00000392869,NM_001284234.1;GTDC1,missense_variant,p.Val123Ile,ENST00000409214,NM_001006636.3,NM_001284234.1;GTDC1,missense_variant,p.Val123Ile,ENST00000542155,NM_001164629.2;GTDC1,missense_variant,p.Val123Ile,ENST00000344850,;GTDC1,missense_variant,p.Val123Ile,ENST00000392867,NM_024659.4;GTDC1,missense_variant,p.Val123Ile,ENST00000241391,;GTDC1,missense_variant,p.Val123Ile,ENST00000409298,;GTDC1,missense_variant,p.Val123Ile,ENST00000437114,;GTDC1,5_prime_UTR_variant,,ENST00000463875,;GTDC1,downstream_gene_variant,,ENST00000417450,;GTDC1,non_coding_transcript_exon_variant,,ENST00000482601,;GTDC1,non_coding_transcript_exon_variant,,ENST00000476958,;GTDC1,missense_variant,p.Val123Ile,ENST00000392871,NM_001284233.1;GTDC1,3_prime_UTR_variant,,ENST00000415569,NM_001284238.1;GTDC1,non_coding_transcript_exon_variant,,ENST00000491448,;	uc002tvp.2	c.367G>A	561/2607	1	1			c.367G>A						2	SNP	c.(367-369)GTA>ATA	7	7			ovary(1)	1	Broad	glycosyltransferase-like domain containing 1			144899603		0.383	ENSG00000121964	6727	g.chr2:144899603C>T	biosynthetic process		transferase activity, transferring glycosyl groups							42.499488	KEEP	5	15	-1	22	26	5	15	-1	45.011683	22	26	0.292308	1	0	0	0	0	1	0	0	0	--	--		0	T			GTDC1_uc002tvo.2_Missense_Mutation_p.V123I|GTDC1_uc002tvq.2_Missense_Mutation_p.V123I|GTDC1_uc002tvr.2_Missense_Mutation_p.V123I|GTDC1_uc010fnn.2_Missense_Mutation_p.V123I|GTDC1_uc002tvs.2_Missense_Mutation_p.V91I|GTDC1_uc010fno.2_5'UTR|GTDC1_uc002tvt.1_Missense_Mutation_p.V123I	100	GBM-06-5418-TP	p.V123I	C	GAGTTGAATACAACCACATCA	NM_001006636	NP_001006637	144899603	Q4AE62	GTDC1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.0914)	6	646	-	T	T			Missense_Mutation	123						
GTDC1	0	broad.mit.edu	GRCh37	2	144765034	144765034	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-14-0787-01	TCGA-14-0787-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344850.4:c.590T>A	p.Val197Asp	p.V197D	ENST00000344850		197	gTt/gAt	0			1			T	V/D	uc002tvp.2	protein_coding		CCDS33300.1			590/1377									ovary(1)	1	c.(589-591)GTT>GAT			hmmpanther:PTHR13615,hmmpanther:PTHR13615:SF1	glycosyltransferase-like domain containing 1				ENSP00000339750		12-Jul									COSM3406917	12-Jul	.		ENST00000344850	Transcript			biosynthetic process		transferase activity, transferring glycosyl groups	ENSG00000121964	g.chr2:144765034A>T	20887			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=GTDC1_HUMAN&rb=168&re=280&var=V197D	NA	getma.org/?cm=var&var=hg19,2,144765034,A,T&fts=all	V197D	--	--	1																																		GTDC1_uc002tvo.2_Missense_Mutation_p.V197D|GTDC1_uc002tvq.2_Intron|GTDC1_uc002tvr.2_Missense_Mutation_p.V197D|GTDC1_uc010fnn.2_Missense_Mutation_p.V197D|GTDC1_uc002tvs.2_Missense_Mutation_p.V165D|GTDC1_uc010fno.2_Missense_Mutation_p.V68D|GTDC1_uc002tvt.1_Missense_Mutation_p.V197D	1			benign(0.028)	p.V197D	NM_001006636	NP_001006637		tolerated_low_confidence(0.3)	1	GTDC1_HUMAN	GTDC1	HGNC	Q4AE62	GTDC1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0914)	G5EA49_HUMAN,G1UFN1_HUMAN,C9JIH3_HUMAN,C9J2C5_HUMAN		7	869	-			UPI000022BC3B	197					SNV	GTDC1,missense_variant,p.Val197Asp,ENST00000392869,NM_001284234.1;GTDC1,missense_variant,p.Val197Asp,ENST00000409214,NM_001006636.3,NM_001284234.1;GTDC1,missense_variant,p.Val197Asp,ENST00000542155,NM_001164629.2;GTDC1,missense_variant,p.Val197Asp,ENST00000344850,;GTDC1,missense_variant,p.Val197Asp,ENST00000392867,NM_024659.4;GTDC1,missense_variant,p.Val197Asp,ENST00000241391,;GTDC1,missense_variant,p.Val68Asp,ENST00000463875,;GTDC1,intron_variant,,ENST00000409298,;GTDC1,non_coding_transcript_exon_variant,,ENST00000476958,;GTDC1,missense_variant,p.Val197Asp,ENST00000392871,NM_001284233.1;GTDC1,3_prime_UTR_variant,,ENST00000415569,NM_001284238.1;GTDC1,non_coding_transcript_exon_variant,,ENST00000491448,;	uc002tvp.2	c.590T>A	784/2607	1	1			c.590T>A						2	SNP	c.(589-591)GTT>GAT	9	9			ovary(1)	1	Broad	glycosyltransferase-like domain containing 1			144765034		0.403	ENSG00000121964	6727	g.chr2:144765034A>T	biosynthetic process		transferase activity, transferring glycosyl groups							94.192271	KEEP	22	15	-1	39	43	22	15	-1	97.027232	39	43	0.327103	1	0	0	0	0	1	0	0	0	--	--		0	T			GTDC1_uc002tvo.2_Missense_Mutation_p.V197D|GTDC1_uc002tvq.2_Intron|GTDC1_uc002tvr.2_Missense_Mutation_p.V197D|GTDC1_uc010fnn.2_Missense_Mutation_p.V197D|GTDC1_uc002tvs.2_Missense_Mutation_p.V165D|GTDC1_uc010fno.2_Missense_Mutation_p.V68D|GTDC1_uc002tvt.1_Missense_Mutation_p.V197D	135	GBM-14-0787-TP	p.V197D	A	CATGGACAGAACCGCACCGCC	NM_001006636	NP_001006637	144765034	Q4AE62	GTDC1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.0914)	7	869	-	T	T			Missense_Mutation	197						
GTF2H1	0	broad.mit.edu	GRCh37	11	18369162	18369162	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-06-6701-01	TCGA-06-6701-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265963.4:c.865delG	p.Ala289LeufsTer7	p.A289Lfs*7	ENST00000265963	NM_005316.3	289	Gct/ct	0			1			-	A/X	uc001moi.2	protein_coding	YES	CCDS7838.1			865/1647										0	c.(865-867)GCTfs		NER	hmmpanther:PTHR12856	general transcription factor IIH, polypeptide 1,				ENSP00000265963		15-Aug										15-Aug	.		ENST00000265963	Transcript			mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding	ENSG00000110768	g.chr11:18369162delG	4655			HIGH								--	--	1																																		GTF2H1_uc001moh.2_Frame_Shift_Del_p.A289fs|GTF2H1_uc009yhm.2_Frame_Shift_Del_p.A173fs|GTF2H1_uc001moj.2_5'UTR		1			p.A289fs	NM_001142307	NP_001135779				TF2H1_HUMAN	GTF2H1	HGNC	P32780	TF2H1_HUMAN			F5H0Y9_HUMAN,E9PM51_HUMAN,E9PL58_HUMAN,B4DSG6_HUMAN,B3KXE0_HUMAN		9	1559	+			UPI0000136C8A	289					deletion	GTF2H1,frameshift_variant,p.Ala289LeufsTer7,ENST00000265963,NM_005316.3;GTF2H1,frameshift_variant,p.Ala289LeufsTer7,ENST00000453096,NM_001142307.1;GTF2H1,frameshift_variant,p.Ala173LeufsTer7,ENST00000534641,;GTF2H1,frameshift_variant,p.Ala85LeufsTer7,ENST00000524753,;GTF2H1,5_prime_UTR_variant,,ENST00000530496,;GTF2H1,upstream_gene_variant,,ENST00000526630,;GTF2H1,non_coding_transcript_exon_variant,,ENST00000418116,;GTF2H1,upstream_gene_variant,,ENST00000528427,;GTF2H1,upstream_gene_variant,,ENST00000526282,;	uc001moi.2	c.865delG	1025/2982	5	5			c.865delG						11	DEL	c.(865-867)GCTfs	29	29				0	Broad	general transcription factor IIH, polypeptide 1,	NER		18369162		0.368	ENSG00000110768	6736	g.chr11:18369162delG	mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding																				0.32	1	1	0	1	0	0	0	0	0	--	--		0	-			GTF2H1_uc001moh.2_Frame_Shift_Del_p.A289fs|GTF2H1_uc009yhm.2_Frame_Shift_Del_p.A173fs|GTF2H1_uc001moj.2_5'UTR	115	GBM-06-6701-TP	p.A289fs	G	TGTGCCATCTGCTTCCAATTC	NM_001142307	NP_001135779	18369162	P32780	TF2H1_HUMAN	0			9	1559	+	-	-			Frame_Shift_Del	289						
GTF2H1	0	broad.mit.edu	GRCh37	11	18369172	18369172	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-28-2502-01	TCGA-28-2502-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265963.4:c.875C>G	p.Ser292Cys	p.S292C	ENST00000265963	NM_005316.3	292	tCt/tGt	0			1			G	S/C	uc001moi.2	protein_coding	YES	CCDS7838.1			875/1647										0	c.(874-876)TCT>TGT		NER	hmmpanther:PTHR12856	general transcription factor IIH, polypeptide 1,				ENSP00000265963		15-Aug									COSM3397597	15-Aug	.		ENST00000265963	Transcript			mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding	ENSG00000110768	g.chr11:18369172C>G	4655			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=TF2H1_HUMAN&rb=238&re=437&var=S292C	NA	getma.org/?cm=var&var=hg19,11,18369172,C,G&fts=all	S292C	--	--	1																																		GTF2H1_uc001moh.2_Missense_Mutation_p.S292C|GTF2H1_uc009yhm.2_Missense_Mutation_p.S176C|GTF2H1_uc001moj.2_5'UTR	1	1		possibly_damaging(0.469)	p.S292C	NM_001142307	NP_001135779		deleterious(0.01)	1	TF2H1_HUMAN	GTF2H1	HGNC	P32780	TF2H1_HUMAN			F5H0Y9_HUMAN,E9PM51_HUMAN,E9PL58_HUMAN,B4DSG6_HUMAN,B3KXE0_HUMAN		9	1569	+			UPI0000136C8A	292	S -> P (in Ref. 2; BAB15621).				SNV	GTF2H1,missense_variant,p.Ser292Cys,ENST00000265963,NM_005316.3;GTF2H1,missense_variant,p.Ser292Cys,ENST00000453096,NM_001142307.1;GTF2H1,missense_variant,p.Ser176Cys,ENST00000534641,;GTF2H1,missense_variant,p.Ser88Cys,ENST00000524753,;GTF2H1,5_prime_UTR_variant,,ENST00000530496,;GTF2H1,upstream_gene_variant,,ENST00000526630,;GTF2H1,non_coding_transcript_exon_variant,,ENST00000418116,;GTF2H1,upstream_gene_variant,,ENST00000528427,;GTF2H1,upstream_gene_variant,,ENST00000526282,;	uc001moi.2	c.875C>G	1035/2982	3	3			c.875C>G						11	SNP	c.(874-876)TCT>TGT	64	64				0	Broad	general transcription factor IIH, polypeptide 1,	NER		18369172		0.358	ENSG00000110768	6736	g.chr11:18369172C>G	mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding							55.669556	KEEP	17	12	-1	34	46	17	12	-1	63.620753	34	46	0.2	1	0	0	0	0	1	0	0	0	--	--		0	G			GTF2H1_uc001moh.2_Missense_Mutation_p.S292C|GTF2H1_uc009yhm.2_Missense_Mutation_p.S176C|GTF2H1_uc001moj.2_5'UTR	210	GBM-28-2502-TP	p.S292C	C	GCTTCCAATTCTAAATCCATA	NM_001142307	NP_001135779	18369172	P32780	TF2H1_HUMAN	0			9	1569	+	G	G			Missense_Mutation	292	S -> P (in Ref. 2; BAB15621).					
GTF2IRD1	0	broad.mit.edu	GRCh37	7	74004217	74004217	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265755.3:c.2403C>T	p.Ile801=	p.I801=	ENST00000265755	NM_005685.3	801	atC/atT	0			1			T	I	uc003uaq.2	protein_coding		CCDS5571.1			2403/2880									ovary(4)	4	c.(2401-2403)ATC>ATT			Superfamily_domains:0048894,Gene3D:1q60A00,PIRSF_domain:PIRSF016441,PROSITE_profiles:PS51139,hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF84	GTF2I repeat domain containing 1 isoform 1				ENSP00000265755		23/27									COSM3412288	23/27	.		ENST00000265755	Transcript	1			nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	ENSG00000006704	g.chr7:74004217C>T	4661			LOW								--	--	1																																		GTF2IRD1_uc010lbq.2_Silent_p.I818I|GTF2IRD1_uc003uap.2_Silent_p.I786I|GTF2IRD1_uc003uar.1_Silent_p.I786I	1				p.I801I	NM_016328	NP_057412			1	GT2D1_HUMAN	GTF2IRD1	HGNC	Q9UHL9	GT2D1_HUMAN			Q75MX6_HUMAN		23	2796	+			UPI000012AE30	801			GTF2I-like 5.		SNV	GTF2IRD1,synonymous_variant,p.=,ENST00000476977,;GTF2IRD1,synonymous_variant,p.=,ENST00000265755,NM_005685.3,NM_016328.2;GTF2IRD1,synonymous_variant,p.=,ENST00000455841,NM_001199207.1;GTF2IRD1,synonymous_variant,p.=,ENST00000424337,;GTF2IRD1,synonymous_variant,p.=,ENST00000470715,;	uc003uaq.2	c.2403C>T	2796/3430	2	2			c.2403C>T						7	SNP	c.(2401-2403)ATC>ATT	27	27			ovary(4)	4	Broad	GTF2I repeat domain containing 1 isoform 1			74004217		0.592	ENSG00000006704	6744	g.chr7:74004217C>T		nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity							8.218605	KEEP	6	3	-1	45	56	6	3	-1	20.579022	45	56	0.109756	1	0	0	0	0	0	0	1	0	--	--		0	T			GTF2IRD1_uc010lbq.2_Silent_p.I818I|GTF2IRD1_uc003uap.2_Silent_p.I786I|GTF2IRD1_uc003uar.1_Silent_p.I786I	229	GBM-32-1977-TP	p.I801I	C	AGAAGGTGATCCTGCGGGAGC	NM_016328	NP_057412	74004217	Q9UHL9	GT2D1_HUMAN	0			23	2796	+	T	T			Silent	801			GTF2I-like 5.			
GTF2IRD1	9569		GRCh37	7	73922465	73922465	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000455841.2:c.55C>T	p.Arg19Cys	p.R19C	ENST00000455841	NM_001199207.1	19	Cgc/Tgc	0																																																																																																																																																																																																																																												
GTF2IRD2	84163	broad.mit.edu	GRCh37	7	74234528	74234528	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000405086.2:c.597G>A	p.Ala199=	p.A199=	ENST00000405086	NM_173537.3	199	gcG/gcA	0			1			T	A	uc003ubd.1	protein_coding	YES	CCDS5576.1			597/2850									ovary(1)	1	c.(595-597)GCG>GCA			hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF35	GTF2I repeat domain containing 2				ENSP00000385491		16-Jul	0.000119			0.0017					rs782592175	16-Jul	common_variant		ENST00000405086	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000196275	g.chr7:74234528C>T	30775			LOW								--	--	1																																		GTF2IRD2_uc011kfi.1_Silent_p.A199A|uc003ube.1_5'Flank|GTF2IRD2_uc003ubf.1_Silent_p.A199A		1			p.A199A	NM_173537	NP_775808				GTD2A_HUMAN	GTF2IRD2	HGNC	Q86UP8	GTD2A_HUMAN					7	781	-			UPI0000246D34	199					SNV	GTF2IRD2,synonymous_variant,p.=,ENST00000405086,NM_173537.3;GTF2IRD2,synonymous_variant,p.=,ENST00000361071,;GTF2IRD2,synonymous_variant,p.=,ENST00000453619,;GTF2IRD2,non_coding_transcript_exon_variant,,ENST00000484624,;GTF2IRD2,downstream_gene_variant,,ENST00000457594,;STAG3L2,intron_variant,,ENST00000380775,;	uc003ubd.1	c.597G>A	787/3558	2	2			c.597G>A						7	SNP	c.(595-597)GCG>GCA	22	22			ovary(1)	1	Broad	GTF2I repeat domain containing 2			74234528		0.443	ENSG00000196275	6745	g.chr7:74234528C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	NSCLC(40;560 1096 7501 40315 49546)			NSCLC(40;560 1096 7501 40315 49546)			23.962542	KEEP	15	4	-1	67	66	15	4	-1	31.985586	67	66	0.162162	1	0	0	0	0	0	0	1	0	--	--		0	T			GTF2IRD2_uc011kfi.1_Silent_p.A199A|uc003ube.1_5'Flank|GTF2IRD2_uc003ubf.1_Silent_p.A199A	18	GBM-06-0137-TP	p.A199A	C	TGGATCTCTCCGCATCTGTTA	NM_173537	NP_775808	74234528	Q86UP8	GTD2A_HUMAN	0			7	781	-	T	T			Silent	199						
GTF3C1	2975	broad.mit.edu	GRCh37	16	27518426	27518426	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01	TCGA-06-0174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356183.4:c.1294G>A	p.Val432Met	p.V432M	ENST00000356183	NM_001520.3	432	Gtg/Atg	0			1			T	V/M	uc002dov.1	protein_coding	YES	CCDS32414.1			1294/6330									ovary(2)|pancreas(1)|breast(1)|skin(1)	5	c.(1294-1296)GTG>ATG			hmmpanther:PTHR15180	general transcription factor IIIC, polypeptide				ENSP00000348510		Sep-37	8.24E-06					1.50E-05			rs773213449,COSM3402226	Sep-37	.		ENST00000356183	Transcript				transcription factor TFIIIC complex	DNA binding|protein binding	ENSG00000077235	g.chr16:27518426C>T	4664			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=TF3C1_HUMAN&rb=251&re=450&var=V432M	NA	getma.org/?cm=var&var=hg19,16,27518426,C,T&fts=all	V432M	--	--	1																																		GTF3C1_uc002dou.2_Missense_Mutation_p.V432M	0,1	1		possibly_damaging(0.73)	p.V432M	NM_001520	NP_001511		deleterious(0.03)	0,1	TF3C1_HUMAN	GTF3C1	HGNC	Q12789	TF3C1_HUMAN			Q7Z7H4_HUMAN,I3L1Z3_HUMAN		9	1334	-			UPI00001FF123	432					SNV	GTF3C1,missense_variant,p.Val432Met,ENST00000356183,NM_001520.3;GTF3C1,missense_variant,p.Val432Met,ENST00000561623,NM_001286242.1;GTF3C1,upstream_gene_variant,,ENST00000569653,;	uc002dov.1	c.1294G>A	1310/7018	2	2			c.1294G>A						16	SNP	c.(1294-1296)GTG>ATG	29	29			ovary(2)|pancreas(1)|breast(1)|skin(1)	5	Broad	general transcription factor IIIC, polypeptide			27518426		0.552	ENSG00000077235	6748	g.chr16:27518426C>T		transcription factor TFIIIC complex	DNA binding|protein binding							188.502228	KEEP	39	32	-1	46	50	39	32	-1	189.099385	46	50	0.431507	1	0	0	0	0	1	0	0	0	--	--		0	T			GTF3C1_uc002dou.2_Missense_Mutation_p.V432M	37	GBM-06-0174-TP	p.V432M	C	TCTGCAAACACGCAGGAAATG	NM_001520	NP_001511	27518426	Q12789	TF3C1_HUMAN	0			9	1334	-	T	T			Missense_Mutation	432						
GTF3C1	2975	broad.mit.edu	GRCh37	16	27483187	27483187	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0745-01	TCGA-06-0745-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356183.4:c.4408G>C	p.Glu1470Gln	p.E1470Q	ENST00000356183	NM_001520.3	1470	Gag/Cag	0			1			G	E/Q	uc002dov.1	protein_coding	YES	CCDS32414.1			4408/6330									ovary(2)|pancreas(1)|breast(1)|skin(1)	5	c.(4408-4410)GAG>CAG			hmmpanther:PTHR15180	general transcription factor IIIC, polypeptide				ENSP00000348510		30/37									COSM2151704	30/37	.		ENST00000356183	Transcript				transcription factor TFIIIC complex	DNA binding|protein binding	ENSG00000077235	g.chr16:27483187C>G	4664			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=TF3C1_HUMAN&rb=602&re=2107&var=E1470Q	NA	getma.org/?cm=var&var=hg19,16,27483187,C,G&fts=all	E1470Q	--	--	1																																		GTF3C1_uc002dou.2_Missense_Mutation_p.E1470Q	1	1		benign(0.358)	p.E1470Q	NM_001520	NP_001511		tolerated(0.26)	1	TF3C1_HUMAN	GTF3C1	HGNC	Q12789	TF3C1_HUMAN			Q7Z7H4_HUMAN,I3L1Z3_HUMAN		30	4448	-			UPI00001FF123	1470					SNV	GTF3C1,missense_variant,p.Glu1470Gln,ENST00000356183,NM_001520.3;GTF3C1,missense_variant,p.Glu1470Gln,ENST00000561623,NM_001286242.1;GTF3C1,intron_variant,,ENST00000569653,;GTF3C1,upstream_gene_variant,,ENST00000567843,;GTF3C1,missense_variant,p.Glu45Gln,ENST00000571886,;GTF3C1,3_prime_UTR_variant,,ENST00000564664,;GTF3C1,non_coding_transcript_exon_variant,,ENST00000569394,;	uc002dov.1	c.4408G>C	4424/7018	3	3			c.4408G>C						16	SNP	c.(4408-4410)GAG>CAG	11	11			ovary(2)|pancreas(1)|breast(1)|skin(1)	5	Broad	general transcription factor IIIC, polypeptide			27483187		0.617	ENSG00000077235	6748	g.chr16:27483187C>G		transcription factor TFIIIC complex	DNA binding|protein binding							104.071419	KEEP	21	12	-1	37	33	21	12	-1	106.684631	37	33	0.326531	1	0	0	0	0	1	0	0	0	--	--		0	G			GTF3C1_uc002dou.2_Missense_Mutation_p.E1470Q	67	GBM-06-0745-TP	p.E1470Q	C	TTCTGGCACTCCATGAAGGCC	NM_001520	NP_001511	27483187	Q12789	TF3C1_HUMAN	0			30	4448	-	G	G			Missense_Mutation	1470						
GTF3C1	0	broad.mit.edu	GRCh37	16	27499713	27499713	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-28-5219-01	TCGA-28-5219-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356183.4:c.3535G>C	p.Gly1179Arg	p.G1179R	ENST00000356183	NM_001520.3	1179	Ggg/Cgg	0			1			G	G/R	uc002dov.1	protein_coding	YES	CCDS32414.1			3535/6330									ovary(2)|pancreas(1)|breast(1)|skin(1)	5	c.(3535-3537)GGG>CGG			hmmpanther:PTHR15180	general transcription factor IIIC, polypeptide				ENSP00000348510		23/37									COSM3402225	23/37	.		ENST00000356183	Transcript				transcription factor TFIIIC complex	DNA binding|protein binding	ENSG00000077235	g.chr16:27499713C>G	4664			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=TF3C1_HUMAN&rb=602&re=2107&var=G1179R	NA	getma.org/?cm=var&var=hg19,16,27499713,C,G&fts=all	G1179R	--	--	1																																		GTF3C1_uc002dou.2_Missense_Mutation_p.G1179R	1	1		possibly_damaging(0.779)	p.G1179R	NM_001520	NP_001511		tolerated(0.08)	1	TF3C1_HUMAN	GTF3C1	HGNC	Q12789	TF3C1_HUMAN			Q7Z7H4_HUMAN,I3L1Z3_HUMAN		23	3575	-			UPI00001FF123	1179					SNV	GTF3C1,missense_variant,p.Gly1179Arg,ENST00000356183,NM_001520.3;GTF3C1,missense_variant,p.Gly1179Arg,ENST00000561623,NM_001286242.1;GTF3C1,intron_variant,,ENST00000569653,;GTF3C1,upstream_gene_variant,,ENST00000568569,;GTF3C1,upstream_gene_variant,,ENST00000570129,;GTF3C1,missense_variant,p.Gly63Arg,ENST00000564664,;GTF3C1,upstream_gene_variant,,ENST00000566779,;	uc002dov.1	c.3535G>C	3551/7018	3	3			c.3535G>C						16	SNP	c.(3535-3537)GGG>CGG	16	16			ovary(2)|pancreas(1)|breast(1)|skin(1)	5	Broad	general transcription factor IIIC, polypeptide			27499713		0.552	ENSG00000077235	6748	g.chr16:27499713C>G		transcription factor TFIIIC complex	DNA binding|protein binding							259.977646	KEEP	50	45	-1	104	131	50	45	-1	271.32791	104	131	0.290657	1	0	0	0	0	1	0	0	0	--	--		0	G			GTF3C1_uc002dou.2_Missense_Mutation_p.G1179R	225	GBM-28-5219-TP	p.G1179R	C	CTTGCTTCCCCCCAAATATTC	NM_001520	NP_001511	27499713	Q12789	TF3C1_HUMAN	0			23	3575	-	G	G			Missense_Mutation	1179						
GTF3C1	2975		GRCh37	16	27480738	27480738	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2510-01	TCGA-28-2510-01																				ENST00000356183.4:c.4948G>A	p.Gly1650Ser	p.G1650S	ENST00000356183	NM_001520.3	1650	Ggc/Agc	0																																																																																																																																																																																																																																												
GTF3C4	0	broad.mit.edu	GRCh37	9	135546145	135546145	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01	TCGA-27-1834-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372146.4:c.160C>T	p.Arg54Trp	p.R54W	ENST00000372146	NM_012204.2	54	Cgg/Tgg	0			1			T	R/W	uc010mzv.2	protein_coding	YES	CCDS6953.1			160/2469									ovary(1)|central_nervous_system(1)	2	c.(160-162)CGG>TGG			hmmpanther:PTHR15496,hmmpanther:PTHR15496:SF1	general transcription factor IIIC 4				ENSP00000361219		5-Jan									COSM3413406	5-Jan	.		ENST00000372146	Transcript			transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding	ENSG00000125484	g.chr9:135546145C>T	4667			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TF3C4_HUMAN&rb=1&re=60&var=R54W	NA	getma.org/?cm=var&var=hg19,9,135546145,C,T&fts=all	R54W	--	--	1																																		DDX31_uc004cbq.1_5'Flank|DDX31_uc010mzu.1_5'Flank|DDX31_uc004cbr.1_5'Flank|DDX31_uc004cbs.1_5'Flank|GTF3C4_uc010mzw.2_RNA	1	1		benign(0.412)	p.R54W	NM_012204	NP_036336		deleterious(0)	1	TF3C4_HUMAN	GTF3C4	HGNC	Q9UKN8	TF3C4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)	B3KNH2_HUMAN		1	418	+			UPI000013CBAB	54					SNV	GTF3C4,missense_variant,p.Arg54Trp,ENST00000372146,NM_012204.2;GTF3C4,missense_variant,p.Arg54Trp,ENST00000483873,;DDX31,upstream_gene_variant,,ENST00000372159,NM_022779.7;DDX31,upstream_gene_variant,,ENST00000372153,;DDX31,upstream_gene_variant,,ENST00000310532,NM_138620.1;DDX31,upstream_gene_variant,,ENST00000544003,;DDX31,upstream_gene_variant,,ENST00000480876,;DDX31,upstream_gene_variant,,ENST00000482620,;	uc010mzv.2	c.160C>T	724/9043	1	1			c.160C>T						9	SNP	c.(160-162)CGG>TGG	6	6			ovary(1)|central_nervous_system(1)	2	Broad	general transcription factor IIIC 4			135546145		0.567	ENSG00000125484	6751	g.chr9:135546145C>T	transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding	Pancreas(142;417 1875 11086 31973 47667)			Pancreas(142;417 1875 11086 31973 47667)			9.846888	KEEP	7	3	-1	1	1	7	3	-1	9.728894	1	1	1	1	0	0	0	0	1	0	0	0	--	--		0	T			DDX31_uc004cbq.1_5'Flank|DDX31_uc010mzu.1_5'Flank|DDX31_uc004cbr.1_5'Flank|DDX31_uc004cbs.1_5'Flank|GTF3C4_uc010mzw.2_RNA	193	GBM-27-1834-TP	p.R54W	C	GGTGACTCGGCGGGAGCCGGC	NM_012204	NP_036336	135546145	Q9UKN8	TF3C4_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)	1	418	+	T	T			Missense_Mutation	54						
GTF3C6	112495		GRCh37	6	111288823	111288823	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000329970.7:c.472G>T	p.Asp158Tyr	p.D158Y	ENST00000329970	NM_138408.3	158	Gat/Tat	0																																																																																																																																																																																																																																												
GTPBP3	0	broad.mit.edu	GRCh37	19	17450006	17450006	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-28-2513-01	TCGA-28-2513-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324894.8:c.739C>A	p.Arg247Ser	p.R247S	ENST00000324894	NM_133644.3	247	Cgc/Agc	0			1			A	R/S	uc010eas.2	protein_coding		CCDS32951.1			739/1479									skin(1)	1	c.(739-741)CGC>AGC			HAMAP:MF_00379,hmmpanther:PTHR11649:SF56,hmmpanther:PTHR11649,Superfamily_domains:SSF52540,Superfamily_domains:0051155	GTP binding protein 3 (mitochondrial) isoform V				ENSP00000313818		9-Jun									COSM3403917	9-Jun	.		ENST00000324894	Transcript	1		tRNA modification	mitochondrion	GTP binding|GTPase activity	ENSG00000130299	g.chr19:17450006C>A	14880			MODERATE		3.19	medium	getma.org/?cm=msa&ty=f&p=GTPB3_HUMAN&rb=153&re=250&var=R247S	getma.org/pdb.php?prot=GTPB3_HUMAN&from=153&to=250&var=R247S	getma.org/?cm=var&var=hg19,19,17450006,C,A&fts=all	R247S	--	--	1																																		GTPBP3_uc010xpo.1_Missense_Mutation_p.R269S|GTPBP3_uc010ear.1_RNA|GTPBP3_uc002ngh.3_Missense_Mutation_p.R247S|GTPBP3_uc002ngg.3_Missense_Mutation_p.R279S|GTPBP3_uc002ngi.3_5'UTR	1			probably_damaging(0.978)	p.R247S	NM_032620	NP_116009		deleterious(0)	1	GTPB3_HUMAN	GTPBP3	HGNC	Q969Y2	GTPB3_HUMAN					6	804	+			UPI0000071EBF	247					SNV	GTPBP3,missense_variant,p.Arg247Ser,ENST00000324894,NM_133644.3,NM_032620.3;GTPBP3,missense_variant,p.Arg247Ser,ENST00000600625,NM_001128855.2;GTPBP3,missense_variant,p.Arg279Ser,ENST00000358792,;GTPBP3,missense_variant,p.Arg269Ser,ENST00000361619,NM_001195422.1;ANO8,upstream_gene_variant,,ENST00000159087,NM_020959.2;GTPBP3,non_coding_transcript_exon_variant,,ENST00000598038,;GTPBP3,non_coding_transcript_exon_variant,,ENST00000596166,;GTPBP3,downstream_gene_variant,,ENST00000594345,;GTPBP3,downstream_gene_variant,,ENST00000596218,;GTPBP3,downstream_gene_variant,,ENST00000600995,;GTPBP3,downstream_gene_variant,,ENST00000596941,;GTPBP3,downstream_gene_variant,,ENST00000595381,;GTPBP3,downstream_gene_variant,,ENST00000598532,;GTPBP3,downstream_gene_variant,,ENST00000593297,;GTPBP3,downstream_gene_variant,,ENST00000595951,;GTPBP3,synonymous_variant,p.=,ENST00000594018,;GTPBP3,synonymous_variant,p.=,ENST00000598493,;GTPBP3,3_prime_UTR_variant,,ENST00000600610,;GTPBP3,non_coding_transcript_exon_variant,,ENST00000602056,;GTPBP3,non_coding_transcript_exon_variant,,ENST00000594703,;ANO8,upstream_gene_variant,,ENST00000597643,;GTPBP3,downstream_gene_variant,,ENST00000596001,;ANO8,upstream_gene_variant,,ENST00000600711,;GTPBP3,upstream_gene_variant,,ENST00000596125,;GTPBP3,downstream_gene_variant,,ENST00000602165,;GTPBP3,downstream_gene_variant,,ENST00000601261,;GTPBP3,downstream_gene_variant,,ENST00000599429,;GTPBP3,downstream_gene_variant,,ENST00000601213,;GTPBP3,downstream_gene_variant,,ENST00000599329,;GTPBP3,upstream_gene_variant,,ENST00000595194,;GTPBP3,downstream_gene_variant,,ENST00000601983,;	uc010eas.2	c.739C>A	807/2579	1	1			c.739C>A						19	SNP	c.(739-741)CGC>AGC	59	59			skin(1)	1	Broad	GTP binding protein 3 (mitochondrial) isoform V			17450006		0.662	ENSG00000130299	6757	g.chr19:17450006C>A	tRNA modification	mitochondrion	GTP binding|GTPase activity							9.501541	KEEP	4	3	0.428571429	29	25	4	3	0.428571429	17.912552	29	25	0.118644	1	0	0	0	0	1	0	0	0	--	--		0	A			GTPBP3_uc010xpo.1_Missense_Mutation_p.R269S|GTPBP3_uc010ear.1_RNA|GTPBP3_uc002ngh.3_Missense_Mutation_p.R247S|GTPBP3_uc002ngg.3_Missense_Mutation_p.R279S|GTPBP3_uc002ngi.3_5'UTR	213	GBM-28-2513-TP	p.R247S	C	GCAGAGGCTCCGCTCAGGGGT	NM_032620	NP_116009	17450006	Q969Y2	GTPB3_HUMAN	0			6	804	+	A	A			Missense_Mutation	247						
GTSE1	51512	broad.mit.edu	GRCh37	22	46708130	46708130	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0879-01	TCGA-06-0879-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000454366.1:c.855G>A	p.Pro285=	p.P285=	ENST00000454366	NM_016426.6	285	ccG/ccA	0			1			A	P	uc011aqy.1	protein_coding	YES	CCDS14074.2			855/2220									ovary(1)	1	c.(853-855)CCG>CCA			Low_complexity_(Seg):seg,hmmpanther:PTHR21584:SF8,hmmpanther:PTHR21584	G-2 and S-phase expressed 1				ENSP00000415430		12-May	8.24E-06	9.65E-05							rs749506319,COSM2152306,COSM2152305	12-May	.		ENST00000454366	Transcript			DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		ENSG00000075218	g.chr22:46708130G>A	13698			LOW								--	--	1																																		GTSE1_uc011aqz.1_Silent_p.P132P	0,1,1	1			p.P285P	NM_016426	NP_057510			0,1,1	GTSE1_HUMAN	GTSE1	HGNC	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)			5	1067	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	UPI000021D19B	266					SNV	GTSE1,synonymous_variant,p.=,ENST00000454366,NM_016426.6;GTSE1,upstream_gene_variant,,ENST00000466510,;GTSE1,upstream_gene_variant,,ENST00000479645,;	uc011aqy.1	c.855G>A	1067/3112	1	1			c.855G>A						22	SNP	c.(853-855)CCG>CCA	53	53			ovary(1)	1	Broad	G-2 and S-phase expressed 1			46708130		0.577	ENSG00000075218	6761	g.chr22:46708130G>A	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		GBM(153;542 1915 12487 29016 50495)		471	GBM(153;542 1915 12487 29016 50495)		471	97.04909	KEEP	22	21	-1	22	24	22	21	-1	97.132125	22	24	0.461538	1	0	0	0	0	0	0	1	0	--	--		0	A			GTSE1_uc011aqz.1_Silent_p.P132P	75	GBM-06-0879-TP	p.P285P	G	AACCTGCCCCGGGTGCTGTCA	NM_016426	NP_057510	46708130	Q9NYZ3	GTSE1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	5	1067	+	A	A		Ovarian(80;0.00965)|all_neural(38;0.0416)	Silent	266						
GTSE1	51512	broad.mit.edu	GRCh37	22	46725343	46725343	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-2565-01	TCGA-06-2565-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000454366.1:c.2015T>C	p.Phe672Ser	p.F672S	ENST00000454366	NM_016426.6	672	tTc/tCc	0			1			C	F/S	uc011aqy.1	protein_coding	YES	CCDS14074.2			2015/2220									ovary(1)	1	c.(2014-2016)TTC>TCC			hmmpanther:PTHR21584:SF8,hmmpanther:PTHR21584	G-2 and S-phase expressed 1				ENSP00000415430		12-Nov									COSM2152994,COSM2152993	12-Nov	.		ENST00000454366	Transcript			DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		ENSG00000075218	g.chr22:46725343T>C	13698			MODERATE		2.19	medium	getma.org/?cm=msa&ty=f&p=GTSE1_HUMAN&rb=601&re=720&var=F653S	NA	getma.org/?cm=var&var=hg19,22,46725343,T,C&fts=all	F653S	--	--	1																																		GTSE1_uc011aqz.1_Missense_Mutation_p.F519S|GTSE1_uc003bhn.2_RNA|uc011ara.1_5'Flank|uc003bho.3_5'Flank	1,1	1		probably_damaging(0.945)	p.F672S	NM_016426	NP_057510		deleterious(0)	1,1	GTSE1_HUMAN	GTSE1	HGNC	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)			11	2227	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	UPI000021D19B	653					SNV	GTSE1,missense_variant,p.Phe672Ser,ENST00000454366,NM_016426.6;TRMU,upstream_gene_variant,,ENST00000476901,;TRMU,upstream_gene_variant,,ENST00000486620,;GTSE1,non_coding_transcript_exon_variant,,ENST00000491863,;GTSE1,downstream_gene_variant,,ENST00000466510,;GTSE1,downstream_gene_variant,,ENST00000479645,;	uc011aqy.1	c.2015T>C	2227/3112	3	3			c.2015T>C						22	SNP	c.(2014-2016)TTC>TCC	7	7			ovary(1)	1	Broad	G-2 and S-phase expressed 1			46725343		0.498	ENSG00000075218	6761	g.chr22:46725343T>C	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		GBM(153;542 1915 12487 29016 50495)		471	GBM(153;542 1915 12487 29016 50495)		471	425.835236	KEEP	73	76	-1	75	98	73	76	-1	426.207415	75	98	0.459144	1	0	0	0	0	1	0	0	0	--	--		0	C			GTSE1_uc011aqz.1_Missense_Mutation_p.F519S|GTSE1_uc003bhn.2_RNA|uc011ara.1_5'Flank|uc003bho.3_5'Flank	88	GBM-06-2565-TP	p.F672S	T	CTCATCGACTTCTGCGATACC	NM_016426	NP_057510	46725343	Q9NYZ3	GTSE1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	11	2227	+	C	C		Ovarian(80;0.00965)|all_neural(38;0.0416)	Missense_Mutation	653						
GTSF1L	149699		GRCh37	20	42355070	42355070	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000373003.1:c.265G>A	p.Asp89Asn	p.D89N	ENST00000373003	NM_176791.3	89	Gat/Aat	0																																																																																																																																																																																																																																												
GUCA1C	9626	broad.mit.edu	GRCh37	3	108627021	108627021	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0173-01	TCGA-06-0173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261047.3:c.478G>T	p.Ala160Ser	p.A160S	ENST00000261047	NM_005459.3	160	Gca/Tca	0			1			A	A/S	uc003dxj.2	protein_coding	YES	CCDS2954.1			478/630										0	c.(478-480)GCA>TCA			PROSITE_profiles:PS50222,hmmpanther:PTHR23055:SF80,hmmpanther:PTHR23055,Gene3D:1.10.238.10,SMART_domains:SM00054,Superfamily_domains:SSF47473,Prints_domain:PR00450	guanylate cyclase activator 1C				ENSP00000261047		4-Apr									COSM2150356,COSM2150357	4-Apr	.		ENST00000261047	Transcript			signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity	ENSG00000138472	g.chr3:108627021C>A	4680			MODERATE		-0.64	neutral	getma.org/?cm=msa&ty=f&p=GUC1C_HUMAN&rb=130&re=165&var=A160S	getma.org/pdb.php?prot=GUC1C_HUMAN&from=130&to=165&var=A160S	getma.org/?cm=var&var=hg19,3,108627021,C,A&fts=all	A160S	--	--	1																																		GUCA1C_uc003dxk.2_Missense_Mutation_p.G173V	1,1	1		benign(0.006)	p.A160S	NM_005459	NP_005450		deleterious(0.03)	1,1	GUC1C_HUMAN	GUCA1C	HGNC	O95843	GUC1C_HUMAN					4	546	-			UPI000013D131	160			EF-hand 4.		SNV	GUCA1C,missense_variant,p.Ala160Ser,ENST00000261047,NM_005459.3;GUCA1C,missense_variant,p.Gly173Val,ENST00000393963,;	uc003dxj.2	c.478G>T	611/982	2	2			c.478G>T						3	SNP	c.(478-480)GCA>TCA	48	48				0	Broad	guanylate cyclase activator 1C			108627021		0.398	ENSG00000138472	6766	g.chr3:108627021C>A	signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity	NSCLC(157;1360 1999 30631 40189 44208)			NSCLC(157;1360 1999 30631 40189 44208)			90.133419	KEEP	18	19	0.513513514	25	26	18	19	0.513513514	90.712898	25	26	0.405405	1	0	0	0	0	1	0	0	0	--	--		0	A			GUCA1C_uc003dxk.2_Missense_Mutation_p.G173V	36	GBM-06-0173-TP	p.A160S	C	TGATCTTTTGCCATGCCATTG	NM_005459	NP_005450	108627021	O95843	GUC1C_HUMAN	0			4	546	-	A	A			Missense_Mutation	160			EF-hand 4.			
GUCY1A3	0	broad.mit.edu	GRCh37	4	156632019	156632019	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-1804-01	TCGA-06-1804-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296518.7:c.702G>A	p.Ser234=	p.S234=	ENST00000296518		234	tcG/tcA	0		A:0	1	A:0		A	S	uc003iov.2	protein_coding	YES	CCDS34085.1			702/2073									central_nervous_system(2)|ovary(1)|skin(1)	4	c.(700-702)TCG>TCA			hmmpanther:PTHR11920:SF226,hmmpanther:PTHR11920,Pfam_domain:PF07700,Superfamily_domains:SSF111126	guanylate cyclase 1, soluble, alpha 3 isoform A		A:0		ENSP00000296518	A:0	10-Jun	5.77E-05					4.50E-05		0.000242	rs545740746,COSM2152505	10-Jun	.		ENST00000296518	Transcript	1	A:0.0002	blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	ENSG00000164116	g.chr4:156632019G>A	4685			LOW								--	--	1																																		GUCY1A3_uc003iou.2_Silent_p.S234S|GUCY1A3_uc010iqc.2_Silent_p.S234S|GUCY1A3_uc003iow.2_Silent_p.S234S|GUCY1A3_uc010iqd.2_Silent_p.S233S|GUCY1A3_uc003iox.2_Silent_p.S234S|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Silent_p.S234S|GUCY1A3_uc010iqe.2_5'UTR|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Silent_p.S234S	0,1	1			p.S234S	NM_000856	NP_000847	A:0.001		0,1	GCYA3_HUMAN	GUCY1A3	HGNC	Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	Q9NNW8_HUMAN,J3KPQ8_HUMAN		7	1238	+	all_hematologic(180;0.24)	Renal(120;0.0854)	UPI0000033343	234					SNV	GUCY1A3,synonymous_variant,p.=,ENST00000296518,;GUCY1A3,synonymous_variant,p.=,ENST00000511108,NM_000856.5;GUCY1A3,synonymous_variant,p.=,ENST00000506455,NM_001130682.2;GUCY1A3,synonymous_variant,p.=,ENST00000513574,NM_001130684.2;GUCY1A3,synonymous_variant,p.=,ENST00000455639,NM_001130683.3,NM_001256449.1;GUCY1A3,synonymous_variant,p.=,ENST00000511507,NM_001130687.2;GUCY1A3,5_prime_UTR_variant,,ENST00000393832,NM_001130685.2;GUCY1A3,downstream_gene_variant,,ENST00000515602,;GUCY1A3,3_prime_UTR_variant,,ENST00000443668,;GUCY1A3,non_coding_transcript_exon_variant,,ENST00000512983,;GUCY1A3,intron_variant,,ENST00000515201,;GUCY1A3,intron_variant,,ENST00000509901,;	uc003iov.2	c.702G>A	911/4400	2	2			c.702G>A						4	SNP	c.(700-702)TCG>TCA	34	34			central_nervous_system(2)|ovary(1)|skin(1)	4	Broad	guanylate cyclase 1, soluble, alpha 3 isoform A			156632019		0.468	ENSG00000164116	6770	g.chr4:156632019G>A	blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity							44.38599	KEEP	9	9	-1	20	17	9	9	-1	45.565825	20	17	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	A			GUCY1A3_uc003iou.2_Silent_p.S234S|GUCY1A3_uc010iqc.2_Silent_p.S234S|GUCY1A3_uc003iow.2_Silent_p.S234S|GUCY1A3_uc010iqd.2_Silent_p.S233S|GUCY1A3_uc003iox.2_Silent_p.S234S|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Silent_p.S234S|GUCY1A3_uc010iqe.2_5'UTR|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Silent_p.S234S	79	GBM-06-1804-TP	p.S234S	G	TGGAAGTGTCGTTAATGCCTC	NM_000856	NP_000847	156632019	Q02108	GCYA3_HUMAN	0		COAD - Colon adenocarcinoma(41;0.17)	7	1238	+	A	A	all_hematologic(180;0.24)	Renal(120;0.0854)	Silent	234						
GUCY1B3	0	broad.mit.edu	GRCh37	4	156721201	156721201	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0939-01	TCGA-06-0939-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264424.8:c.1150G>T	p.Glu384Ter	p.E384*	ENST00000264424	NM_000857.2	384	Gaa/Taa	0			1			T	E/*	uc003ipc.2	protein_coding	YES	CCDS47154.1			1150/1860										0	c.(1150-1152)GAA>TAA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11920:SF30,hmmpanther:PTHR11920,Pfam_domain:PF07701	guanylate cyclase 1, soluble, beta 3				ENSP00000264424		14-Sep									COSM3409126	14-Sep	.		ENST00000264424	Transcript			blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity	ENSG00000061918	g.chr4:156721201G>T	4687			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,4,156721201,G,T&fts=all	E384*	--	--	1																																		GUCY1B3_uc011cio.1_Nonsense_Mutation_p.E406*|GUCY1B3_uc011cip.1_Nonsense_Mutation_p.E364*|GUCY1B3_uc003ipd.2_Nonsense_Mutation_p.E312*|GUCY1B3_uc010iqf.2_Nonsense_Mutation_p.E384*|GUCY1B3_uc010iqg.2_Nonsense_Mutation_p.E312*|GUCY1B3_uc011ciq.1_Nonsense_Mutation_p.E312*	1	1			p.E384*	NM_000857	NP_000848			1	GCYB1_HUMAN	GUCY1B3	HGNC	Q02153	GCYB1_HUMAN		COAD - Colon adenocarcinoma(41;0.148)	B7Z685_HUMAN		9	1317	+	all_hematologic(180;0.24)	Renal(120;0.0854)	UPI0000033344	384					SNV	GUCY1B3,stop_gained,p.Glu384Ter,ENST00000264424,NM_000857.2;GUCY1B3,stop_gained,p.Glu316Ter,ENST00000507146,;GUCY1B3,stop_gained,p.Glu364Ter,ENST00000505764,;GUCY1B3,stop_gained,p.Glu316Ter,ENST00000513437,;GUCY1B3,stop_gained,p.Glu316Ter,ENST00000505154,;GUCY1B3,stop_gained,p.Glu406Ter,ENST00000502959,;GUCY1B3,stop_gained,p.Glu384Ter,ENST00000503520,;	uc003ipc.2	c.1150G>T	1232/3124	5	2			c.1150G>T						4	SNP	c.(1150-1152)GAA>TAA	34	34				0	Broad	guanylate cyclase 1, soluble, beta 3			156721201		0.393	ENSG00000061918	6771	g.chr4:156721201G>T	blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity							54.246062	KEEP	11	11	0.5	24	27	11	11	0.5	56.18851	24	27	0.318182	1	0	0	0	0	0	1	0	0	--	--		0	T			GUCY1B3_uc011cio.1_Nonsense_Mutation_p.E406*|GUCY1B3_uc011cip.1_Nonsense_Mutation_p.E364*|GUCY1B3_uc003ipd.2_Nonsense_Mutation_p.E312*|GUCY1B3_uc010iqf.2_Nonsense_Mutation_p.E384*|GUCY1B3_uc010iqg.2_Nonsense_Mutation_p.E312*|GUCY1B3_uc011ciq.1_Nonsense_Mutation_p.E312*	78	GBM-06-0939-TP	p.E384*	G	AAGAGCCCTGGAAGATGAAAA	NM_000857	NP_000848	156721201	Q02153	GCYB1_HUMAN	0		COAD - Colon adenocarcinoma(41;0.148)	9	1317	+	T	T	all_hematologic(180;0.24)	Renal(120;0.0854)	Nonsense_Mutation	384						
GUCY2C	2984	broad.mit.edu	GRCh37	12	14840978	14840978	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6391-01	TCGA-06-6391-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261170.3:c.237C>T	p.Asn79=	p.N79=	ENST00000261170	NM_004963.3	79	aaC/aaT	0			1			A	N	uc001rcd.2	protein_coding	YES	CCDS8664.1			237/3222									ovary(4)|skin(2)	6	c.(235-237)AAC>AAT			Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF41,Superfamily_domains:SSF53822	guanylate cyclase 2C precursor				ENSP00000261170		27-Feb	2.47E-05			0.000232		1.50E-05			rs765471670	27-Feb	.		ENST00000261170	Transcript	1		intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	ENSG00000070019	g.chr12:14840978G>A	4688			LOW								--	--	1																																		GUCY2C_uc009zhz.2_Silent_p.N79N		1			p.N79N	NM_004963	NP_004954				GUC2C_HUMAN	GUCY2C	HGNC	P25092	GUC2C_HUMAN					2	374	-			UPI000013D135	79			Extracellular (Potential).		SNV	GUCY2C,synonymous_variant,p.=,ENST00000261170,NM_004963.3;RP11-174G6.1,intron_variant,,ENST00000501178,;GUCY2C,non_coding_transcript_exon_variant,,ENST00000535803,;	uc001rcd.2	c.237C>T	374/3834	1	1			c.237C>T						12	SNP	c.(235-237)AAC>AAT	60	60			ovary(4)|skin(2)	6	Broad	guanylate cyclase 2C precursor			14840978		0.433	ENSG00000070019	6772	g.chr12:14840978G>A	intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			889			889	11.825984	KEEP	4	5	-1	26	42	4	5	-1	20.284771	26	42	0.136364	1	0	0	0	0	0	0	1	0	--	--		0	A			GUCY2C_uc009zhz.2_Silent_p.N79N	107	GBM-06-6391-TP	p.N79N	G	TGAAAGTAGCGTTCACAGTCA	NM_004963	NP_004954	14840978	P25092	GUC2C_HUMAN	0			2	374	-	A	A			Silent	79			Extracellular (Potential).			
GUCY2F	2986	broad.mit.edu	GRCh37	X	108673542	108673542	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2563-01	TCGA-06-2563-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000218006.2:c.1785C>T	p.Phe595=	p.F595=	ENST00000218006	NM_001522.2	595	ttC/ttT	0			1			A	F	uc004eod.3	protein_coding	YES	CCDS14545.1			1785/3327									lung(4)|breast(3)|central_nervous_system(1)	8	c.(1783-1785)TTC>TTT			PROSITE_profiles:PS50011,hmmpanther:PTHR11920:SF278,hmmpanther:PTHR11920,Pfam_domain:PF07714,Gene3D:3.30.200.20,Superfamily_domains:SSF56112	guanylate cyclase 2F precursor				ENSP00000218006		20-Aug									COSM2152850	20-Aug	.		ENST00000218006	Transcript			intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	ENSG00000101890	g.chrX:108673542G>A	4691			LOW								--	--	1																																		GUCY2F_uc011msq.1_RNA	1	1			p.F595F	NM_001522	NP_001513			1	GUC2F_HUMAN	GUCY2F	HGNC	P51841	GUC2F_HUMAN					8	2061	-			UPI000013C740	595			Protein kinase.|Cytoplasmic (Potential).		SNV	GUCY2F,synonymous_variant,p.=,ENST00000218006,NM_001522.2;	uc004eod.3	c.1785C>T	2077/3714	2	2			c.1785C>T						23	SNP	c.(1783-1785)TTC>TTT	21	21			lung(4)|breast(3)|central_nervous_system(1)	8	Broad	guanylate cyclase 2F precursor			108673542		0.388	ENSG00000101890	6774	g.chrX:108673542G>A	intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			308			308	570.614403	KEEP	110	112	-1	195	156	110	112	-1	576.818308	195	156	0.380081	1	0	0	0	0	0	0	1	0	--	--		0	A			GUCY2F_uc011msq.1_RNA	86	GBM-06-2563-TP	p.F595F	G	ATACCATTTCGAACACATCAC	NM_001522	NP_001513	108673542	P51841	GUC2F_HUMAN	0			8	2061	-	A	A			Silent	595			Protein kinase.|Cytoplasmic (Potential).			
GUCY2F	2986	broad.mit.edu	GRCh37	X	108708484	108708484	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5417-01	TCGA-06-5417-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000218006.2:c.919G>A	p.Ala307Thr	p.A307T	ENST00000218006	NM_001522.2	307	Gcc/Acc	0			1			T	A/T	uc004eod.3	protein_coding	YES	CCDS14545.1			919/3327									lung(4)|breast(3)|central_nervous_system(1)	8	c.(919-921)GCC>ACC			hmmpanther:PTHR11920:SF278,hmmpanther:PTHR11920,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822	guanylate cyclase 2F precursor				ENSP00000218006		20-Mar									COSM2153263	20-Mar	.		ENST00000218006	Transcript			intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	ENSG00000101890	g.chrX:108708484C>T	4691			MODERATE		2.56	medium	getma.org/?cm=msa&ty=f&p=GUC2F_HUMAN&rb=72&re=412&var=A307T	getma.org/pdb.php?prot=GUC2F_HUMAN&from=72&to=412&var=A307T	getma.org/?cm=var&var=hg19,X,108708484,C,T&fts=all	A307T	--	--	1																																		GUCY2F_uc011msq.1_RNA	1	1		possibly_damaging(0.61)	p.A307T	NM_001522	NP_001513		deleterious(0)	1	GUC2F_HUMAN	GUCY2F	HGNC	P51841	GUC2F_HUMAN					3	1195	-			UPI000013C740	307			Extracellular (Potential).		SNV	GUCY2F,missense_variant,p.Ala307Thr,ENST00000218006,NM_001522.2;	uc004eod.3	c.919G>A	1211/3714	2	2			c.919G>A						23	SNP	c.(919-921)GCC>ACC	44	44			lung(4)|breast(3)|central_nervous_system(1)	8	Broad	guanylate cyclase 2F precursor			108708484		0.488	ENSG00000101890	6774	g.chrX:108708484C>T	intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			308			308	459.799787	KEEP	71	81	-1	50	57	71	81	-1	461.400815	50	57	0.5875	1	0	0	0	0	1	0	0	0	--	--		0	T			GUCY2F_uc011msq.1_RNA	99	GBM-06-5417-TP	p.A307T	C	GCATCATAGGCTTCCCGGAGC	NM_001522	NP_001513	108708484	P51841	GUC2F_HUMAN	0			3	1195	-	T	T			Missense_Mutation	307			Extracellular (Potential).			
GYG2	0	broad.mit.edu	GRCh37	X	2799206	2799206	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4929-01	TCGA-76-4929-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381163.3:c.1458G>A	p.Lys486=	p.K486=	ENST00000381163	NM_001079855.1	486	aaG/aaA	0			1			A	K	uc004cqs.1	protein_coding	YES	CCDS14121.1			1458/1506									ovary(1)|kidney(1)	2	c.(1456-1458)AAG>AAA			hmmpanther:PTHR11183:SF41,hmmpanther:PTHR11183	glycogenin 2 isoform b				ENSP00000370555		12-Dec									COSM3406255	12-Dec	.		ENST00000381163	Transcript			glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity	ENSG00000056998	g.chrX:2799206G>A	4700			LOW								--	--	1																																		GYG2_uc004cqt.1_Silent_p.K455K|GYG2_uc004cqu.1_Silent_p.K454K|GYG2_uc004cqv.1_Silent_p.K229K|GYG2_uc004cqw.1_Silent_p.K446K|GYG2_uc004cqx.1_Silent_p.K384K|GYG2_uc010ndc.1_Silent_p.K264K	1	1			p.K486K	NM_003918	NP_003909			1	GLYG2_HUMAN	GYG2	HGNC	O15488	GLYG2_HUMAN					12	1740	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	UPI000049E10B	486					SNV	GYG2,synonymous_variant,p.=,ENST00000381163,NM_001079855.1,NM_001184702.1,NM_003918.2;GYG2,synonymous_variant,p.=,ENST00000338623,;GYG2,synonymous_variant,p.=,ENST00000542787,NM_001184703.1,NM_001184704.1;GYG2,synonymous_variant,p.=,ENST00000398806,;GYG2,downstream_gene_variant,,ENST00000381157,;GYG2,non_coding_transcript_exon_variant,,ENST00000381161,;GYG2,non_coding_transcript_exon_variant,,ENST00000353656,;GYG2,downstream_gene_variant,,ENST00000453106,;	uc004cqs.1	c.1458G>A	1740/3393	2	2			c.1458G>A						23	SNP	c.(1456-1458)AAG>AAA	28	28			ovary(1)|kidney(1)	2	Broad	glycogenin 2 isoform b			2799206		0.552	ENSG00000056998	6782	g.chrX:2799206G>A	glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity							34.980387	KEEP	7	7	-1	21	16	7	7	-1	37.192741	21	16	0.266667	1	0	0	0	0	0	0	1	0	--	--		0	A			GYG2_uc004cqt.1_Silent_p.K455K|GYG2_uc004cqu.1_Silent_p.K454K|GYG2_uc004cqv.1_Silent_p.K229K|GYG2_uc004cqw.1_Silent_p.K446K|GYG2_uc004cqx.1_Silent_p.K384K|GYG2_uc010ndc.1_Silent_p.K264K	269	GBM-76-4929-TP	p.K486K	G	ACATGGGGAAGGACGCGTTTG	NM_003918	NP_003909	2799206	O15488	GLYG2_HUMAN	0			12	1740	+	A	A		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	Silent	486						
GYG2	0	broad.mit.edu	GRCh37	X	2799104	2799104	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4931-01	TCGA-76-4931-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381163.3:c.1356C>T	p.Ala452=	p.A452=	ENST00000381163	NM_001079855.1	452	gcC/gcT	0			1			T	A	uc004cqs.1	protein_coding	YES	CCDS14121.1			1356/1506									ovary(1)|kidney(1)	2	c.(1354-1356)GCC>GCT			hmmpanther:PTHR11183:SF41,hmmpanther:PTHR11183	glycogenin 2 isoform b				ENSP00000370555		12-Dec									COSM3406254	12-Dec	.		ENST00000381163	Transcript			glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity	ENSG00000056998	g.chrX:2799104C>T	4700			LOW								--	--	1																																		GYG2_uc004cqt.1_Silent_p.A421A|GYG2_uc004cqu.1_Silent_p.A420A|GYG2_uc004cqv.1_Silent_p.A195A|GYG2_uc004cqw.1_Silent_p.A412A|GYG2_uc004cqx.1_Silent_p.A350A|GYG2_uc010ndc.1_Silent_p.A230A	1	1			p.A452A	NM_003918	NP_003909			1	GLYG2_HUMAN	GYG2	HGNC	O15488	GLYG2_HUMAN					12	1638	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	UPI000049E10B	452					SNV	GYG2,synonymous_variant,p.=,ENST00000381163,NM_001079855.1,NM_001184702.1,NM_003918.2;GYG2,synonymous_variant,p.=,ENST00000338623,;GYG2,synonymous_variant,p.=,ENST00000542787,NM_001184703.1,NM_001184704.1;GYG2,synonymous_variant,p.=,ENST00000398806,;GYG2,synonymous_variant,p.=,ENST00000381157,;GYG2,non_coding_transcript_exon_variant,,ENST00000381161,;GYG2,non_coding_transcript_exon_variant,,ENST00000353656,;GYG2,downstream_gene_variant,,ENST00000453106,;	uc004cqs.1	c.1356C>T	1638/3393	2	2			c.1356C>T						23	SNP	c.(1354-1356)GCC>GCT	26	26			ovary(1)|kidney(1)	2	Broad	glycogenin 2 isoform b			2799104		0.542	ENSG00000056998	6782	g.chrX:2799104C>T	glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity							61.857549	KEEP	10	14	-1	7	9	10	14	-1	62.360809	7	9	0.642857	1	0	0	0	0	0	0	1	0	--	--		0	T			GYG2_uc004cqt.1_Silent_p.A421A|GYG2_uc004cqu.1_Silent_p.A420A|GYG2_uc004cqv.1_Silent_p.A195A|GYG2_uc004cqw.1_Silent_p.A412A|GYG2_uc004cqx.1_Silent_p.A350A|GYG2_uc010ndc.1_Silent_p.A230A	270	GBM-76-4931-TP	p.A452A	C	TCGACCTGGCCGTCTCTGTTT	NM_003918	NP_003909	2799104	O15488	GLYG2_HUMAN	0			12	1638	+	T	T		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	Silent	452						
GYLTL1B	0	broad.mit.edu	GRCh37	11	45945056	45945056	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-2570-01	TCGA-06-2570-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000531526.1:c.318T>C	p.His106=	p.H106=	ENST00000531526	NM_152312.3	106	caT/caC	0			1			C	H	uc001nbv.1	protein_coding		CCDS31473.1			318/2166									ovary(2)|central_nervous_system(1)	3	c.(316-318)CAT>CAC			Gene3D:3.90.550.10,Superfamily_domains:SSF53448	glycosyltransferase-like 1B				ENSP00000324570		13-Feb									COSM2153115	13-Feb	.		ENST00000325468	Transcript			muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	ENSG00000165905	g.chr11:45945056T>C	16522			LOW								--	--	1																																		GYLTL1B_uc001nbw.1_Silent_p.H75H|GYLTL1B_uc001nbx.1_Silent_p.H106H|GYLTL1B_uc001nby.1_5'Flank	1				p.H106H	NM_152312	NP_689525			1	LARG2_HUMAN	GYLTL1B	HGNC	Q8N3Y3	LARG2_HUMAN		GBM - Glioblastoma multiforme(35;0.226)			3	429	+			UPI000004B639	106			Lumenal (Potential).		SNV	GYLTL1B,synonymous_variant,p.=,ENST00000531526,NM_152312.3;GYLTL1B,synonymous_variant,p.=,ENST00000325468,;GYLTL1B,synonymous_variant,p.=,ENST00000401752,;GYLTL1B,synonymous_variant,p.=,ENST00000529052,;GYLTL1B,synonymous_variant,p.=,ENST00000536139,;GYLTL1B,5_prime_UTR_variant,,ENST00000389968,;PEX16,upstream_gene_variant,,ENST00000532681,;GYLTL1B,upstream_gene_variant,,ENST00000531847,;GYLTL1B,upstream_gene_variant,,ENST00000534410,;GYLTL1B,upstream_gene_variant,,ENST00000528236,;GYLTL1B,upstream_gene_variant,,ENST00000530437,;GYLTL1B,upstream_gene_variant,,ENST00000414027,;GYLTL1B,upstream_gene_variant,,ENST00000525609,;	uc001nbv.1	c.318T>C	423/2522	3	3			c.318T>C						11	SNP	c.(316-318)CAT>CAC	64	64			ovary(2)|central_nervous_system(1)	3	Broad	glycosyltransferase-like 1B			45945056		0.627	ENSG00000165905	6783	g.chr11:45945056T>C	muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups							103.118326	KEEP	13	20	-1	7	7	13	20	-1	104.786236	7	7	0.717949	1	0	0	0	0	0	0	1	0	--	--		0	C			GYLTL1B_uc001nbw.1_Silent_p.H75H|GYLTL1B_uc001nbx.1_Silent_p.H106H|GYLTL1B_uc001nby.1_5'Flank	91	GBM-06-2570-TP	p.H106H	T	GTGCGGGGCATAACTCCAGCC	NM_152312	NP_689525	45945056	Q8N3Y3	LARG2_HUMAN	0		GBM - Glioblastoma multiforme(35;0.226)	3	429	+	C	C			Silent	106			Lumenal (Potential).			
GYLTL1B	0	broad.mit.edu	GRCh37	11	45950278	45950278	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000531526.1:c.2048G>A	p.Arg683His	p.R683H	ENST00000531526	NM_152312.3	683	cGt/cAt	0			1			A	R/H	uc001nbv.1	protein_coding		CCDS31473.1			2048/2166									ovary(2)|central_nervous_system(1)	3	c.(2047-2049)CGT>CAT			hmmpanther:PTHR12270,hmmpanther:PTHR12270:SF23	glycosyltransferase-like 1B				ENSP00000324570		13/13	2.47E-05			0.000116		3.00E-05			rs766932489,COSM3397694	13/13	.		ENST00000325468	Transcript			muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	ENSG00000165905	g.chr11:45950278G>A	16522			MODERATE		2.885	medium	getma.org/?cm=msa&ty=f&p=LARG2_HUMAN&rb=495&re=702&var=R683H	NA	getma.org/?cm=var&var=hg19,11,45950278,G,A&fts=all	R683H	--	--	1																																		GYLTL1B_uc001nbw.1_Missense_Mutation_p.R652H|GYLTL1B_uc001nbx.1_Missense_Mutation_p.R683H|GYLTL1B_uc001nby.1_Missense_Mutation_p.R366H|GYLTL1B_uc001nbz.1_Missense_Mutation_p.V32M	0,1			probably_damaging(0.95)	p.R683H	NM_152312	NP_689525		deleterious(0)	0,1	LARG2_HUMAN	GYLTL1B	HGNC	Q8N3Y3	LARG2_HUMAN		GBM - Glioblastoma multiforme(35;0.226)			14	2159	+			UPI000004B639	683			Lumenal (Potential).		SNV	GYLTL1B,missense_variant,p.Arg683His,ENST00000531526,NM_152312.3;GYLTL1B,missense_variant,p.Arg683His,ENST00000325468,;GYLTL1B,missense_variant,p.Arg683His,ENST00000401752,;GYLTL1B,missense_variant,p.Arg652His,ENST00000529052,;GYLTL1B,missense_variant,p.Arg652His,ENST00000536139,;GYLTL1B,missense_variant,p.Val45Met,ENST00000531847,;PHF21A,downstream_gene_variant,,ENST00000257821,NM_001101802.1;PHF21A,downstream_gene_variant,,ENST00000323180,NM_016621.3;PHF21A,downstream_gene_variant,,ENST00000418153,;GYLTL1B,downstream_gene_variant,,ENST00000389968,;GYLTL1B,downstream_gene_variant,,ENST00000534410,;GYLTL1B,non_coding_transcript_exon_variant,,ENST00000528236,;GYLTL1B,non_coding_transcript_exon_variant,,ENST00000530437,;PHF21A,downstream_gene_variant,,ENST00000527401,;PHF21A,downstream_gene_variant,,ENST00000530587,;GYLTL1B,downstream_gene_variant,,ENST00000414027,;GYLTL1B,downstream_gene_variant,,ENST00000525609,;	uc001nbv.1	c.2048G>A	2153/2522	2	2			c.2048G>A						11	SNP	c.(2047-2049)CGT>CAT	17	17			ovary(2)|central_nervous_system(1)	3	Broad	glycosyltransferase-like 1B			45950278		0.637	ENSG00000165905	6783	g.chr11:45950278G>A	muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups							-23.393206	KEEP	1	3	-1	53	86	1	3	-1	6.819642	53	86	0.031746	1	0	0	0	0	1	0	0	0	--	--		0	A			GYLTL1B_uc001nbw.1_Missense_Mutation_p.R652H|GYLTL1B_uc001nbx.1_Missense_Mutation_p.R683H|GYLTL1B_uc001nby.1_Missense_Mutation_p.R366H|GYLTL1B_uc001nbz.1_Missense_Mutation_p.V32M	102	GBM-06-5858-TP	p.R683H	G	CCCACCTATCGTGACTGCCTC	NM_152312	NP_689525	45950278	Q8N3Y3	LARG2_HUMAN	0		GBM - Glioblastoma multiforme(35;0.226)	14	2159	+	A	A			Missense_Mutation	683			Lumenal (Potential).			
GYPE	2996		GRCh37	4	144826671	144826671	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000358615.4:c.-11G>A		p.*4*	ENST00000358615	NM_198682.2			0																																																																																																																																																																																																																																												
GYS2	0	broad.mit.edu	GRCh37	12	21733300	21733300	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-16-1045-01	TCGA-16-1045-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261195.2:c.279C>T	p.Asp93=	p.D93=	ENST00000261195	NM_021957.3	93	gaC/gaT	0			1			A	D	uc001rfb.2	protein_coding	YES	CCDS8690.1			279/2112									lung(1)|skin(1)	2	c.(277-279)GAC>GAT			Pfam_domain:PF05693,hmmpanther:PTHR10176,hmmpanther:PTHR10176:SF1,Superfamily_domains:SSF53756	glycogen synthase 2				ENSP00000261195		16-Feb	4.94E-05		0.000173	0.000231				0.000121	rs779704436,COSM3384239	16-Feb	.		ENST00000261195	Transcript	1		glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	ENSG00000111713	g.chr12:21733300G>A	4707			LOW								--	--	1																																			0,1	1			p.D93D	NM_021957	NP_068776			0,1	GYS2_HUMAN	GYS2	HGNC	P54840	GYS2_HUMAN					2	534	-			UPI000013D13D	93					SNV	GYS2,synonymous_variant,p.=,ENST00000261195,NM_021957.3;	uc001rfb.2	c.279C>T	534/3132	1	1			c.279C>T						12	SNP	c.(277-279)GAC>GAT	62	62			lung(1)|skin(1)	2	Broad	glycogen synthase 2			21733300		0.403	ENSG00000111713	6789	g.chr12:21733300G>A	glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	Colon(149;9 1820 3690 10544 50424)			Colon(149;9 1820 3690 10544 50424)			298.817767	KEEP	55	62	-1	139	131	55	62	-1	308.498856	139	131	0.316923	1	0	0	0	0	0	0	1	0	--	--		0	A				157	GBM-16-1045-TP	p.D93D	G	TATTCATTGCGTCCACTGCTC	NM_021957	NP_068776	21733300	P54840	GYS2_HUMAN	0			2	534	-	A	A			Silent	93						
GZMB	3002	broad.mit.edu	GRCh37	14	25102156	25102156	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5417-01	TCGA-06-5417-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216341.4:c.168C>T	p.Asp56=	p.D56=	ENST00000216341		56	gaC/gaT	0			1			A	D	uc001wps.2	protein_coding	YES	CCDS9633.1			168/744										0	c.(166-168)GAC>GAT			Gene3D:2.40.10.10,Pfam_domain:PF00089,Prints_domain:PR00722,PROSITE_profiles:PS50240,hmmpanther:PTHR24271,hmmpanther:PTHR24271:SF15,SMART_domains:SM00020,Superfamily_domains:SSF50494	granzyme B precursor				ENSP00000216341		5-Feb									COSM2153268,COSM3401277,COSM2153269	5-Feb	.		ENST00000216341	Transcript			activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity	ENSG00000100453	g.chr14:25102156G>A	4709			LOW								--	--	1																																		GZMB_uc010ama.2_Silent_p.D44D|GZMB_uc010amb.2_RNA	1,1,1	1			p.D56D	NM_004131	NP_004122			1,1,1	GRAB_HUMAN	GZMB	HGNC	P10144	GRAB_HUMAN		GBM - Glioblastoma multiforme(265;0.028)			2	234	-			UPI000004E7FD	56			Peptidase S1.		SNV	GZMB,synonymous_variant,p.=,ENST00000216341,;GZMB,synonymous_variant,p.=,ENST00000382542,;GZMB,synonymous_variant,p.=,ENST00000415355,NM_004131.4;GZMB,synonymous_variant,p.=,ENST00000526004,;GZMB,synonymous_variant,p.=,ENST00000382540,;RP11-104E19.1,intron_variant,,ENST00000557736,;RP11-104E19.1,intron_variant,,ENST00000555300,;GZMB,synonymous_variant,p.=,ENST00000554242,;GZMB,3_prime_UTR_variant,,ENST00000530830,;GZMB,intron_variant,,ENST00000532263,;	uc001wps.2	c.168C>T	275/968	1	1			c.168C>T						14	SNP	c.(166-168)GAC>GAT	61	61				0	Broad	granzyme B precursor			25102156		0.572	ENSG00000100453	6792	g.chr14:25102156G>A	activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity							165.042866	KEEP	34	25	-1	33	32	34	25	-1	165.071713	33	32	0.482456	1	0	0	0	0	0	0	1	0	--	--		0	A			GZMB_uc010ama.2_Silent_p.D44D|GZMB_uc010amb.2_RNA	99	GBM-06-5417-TP	p.D56D	G	GCACGAAGTCGTCTCGTATCA	NM_004131	NP_004122	25102156	P10144	GRAB_HUMAN	0		GBM - Glioblastoma multiforme(265;0.028)	2	234	-	A	A			Silent	56			Peptidase S1.			
GZMK	3003		GRCh37	5	54329635	54329635	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000231009.2:c.676G>A	p.Ala226Thr	p.A226T	ENST00000231009	NM_002104.2	226	Gct/Act	0																																																																																																																																																																																																																																												
GZMM	0	broad.mit.edu	GRCh37	19	547333	547333	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs148691419	byFrequency	TCGA-32-2494-01	TCGA-32-2494-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264553.3:c.109C>T	p.Arg37Cys	p.R37C	ENST00000264553	NM_001258351.1	37	Cgc/Tgc	0	T:0.0011	T:0.0015	1	T:0		T	R/C	uc002low.1	protein_coding	YES	CCDS12031.1			109/774										0	c.(109-111)CGC>TGC			Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24259,hmmpanther:PTHR24259:SF33,SMART_domains:SM00020,Superfamily_domains:SSF50494	granzyme M precursor		T:0	T:0.0001	ENSP00000264553	T:0	5-Feb	0.000115	0.00111				4.68E-05			rs148691419,COSM3404573	5-Feb	common_variant		ENST00000264553	Transcript		T:0.0004	apoptosis|cytolysis|innate immune response|proteolysis	extracellular region	serine-type endopeptidase activity	ENSG00000197540	g.chr19:547333C>T	4712			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=GRAM_HUMAN&rb=26&re=249&var=R37C	getma.org/pdb.php?prot=GRAM_HUMAN&from=26&to=249&var=R37C	getma.org/?cm=var&var=hg19,19,547333,C,T&fts=all	R37C	--	--	1																																			0,1	1		probably_damaging(0.997)	p.R37C	NM_005317	NP_005308	T:0	deleterious(0)	0,1	GRAM_HUMAN	GZMM	HGNC	P51124	GRAM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)			2	154	+		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	UPI000013D531	37			Peptidase S1.		SNV	GZMM,missense_variant,p.Arg37Cys,ENST00000264553,NM_001258351.1,NM_005317.3;GZMM,missense_variant,p.Arg49Cys,ENST00000592501,;	uc002low.1	c.109C>T	147/940	2	2			c.109C>T						19	SNP	c.(109-111)CGC>TGC	23	23				0	Broad	granzyme M precursor			547333		0.662	ENSG00000197540	6795	g.chr19:547333C>T	apoptosis|cytolysis|innate immune response|proteolysis	extracellular region	serine-type endopeptidase activity							152.499312	KEEP	29	40	-1	59	103	29	40	-1	160.333014	59	103	0.28934	1	0	0	0	0	1	0	0	0	--	--		0	T				236	GBM-32-2494-TP	p.R37C	C	CCCCCACTCGCGCCCGTACAT	NM_005317	NP_005308	547333	P51124	GRAM_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	154	+	T	T		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	Missense_Mutation	37			Peptidase S1.			
H1FNT	0	broad.mit.edu	GRCh37	12	48723149	48723149	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335017.1:c.75G>A	p.Ala25=	p.A25=	ENST00000335017	NM_181788.1	25	gcG/gcA	0			1			A	A	uc001rrm.2	protein_coding	YES	CCDS8762.1			75/768									pancreas(1)	1	c.(73-75)GCG>GCA			hmmpanther:PTHR11467,hmmpanther:PTHR11467:SF14	H1 histone family, member N, testis-specific				ENSP00000334805		1-Jan									COSM3398747	1-Jan	.		ENST00000335017	Transcript			chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding	ENSG00000187166	g.chr12:48723149G>A	24893			LOW								--	--	1																																			1	1			p.A25A	NM_181788	NP_861453			1	H1FNT_HUMAN	H1FNT	HGNC	Q75WM6	H1FNT_HUMAN					1	387	+			UPI00001AA15C	25					SNV	H1FNT,synonymous_variant,p.=,ENST00000335017,NM_181788.1;RP11-370I10.4,downstream_gene_variant,,ENST00000549699,;	uc001rrm.2	c.75G>A	387/1300	2	2			c.75G>A						12	SNP	c.(73-75)GCG>GCA	24	24			pancreas(1)	1	Broad	H1 histone family, member N, testis-specific			48723149		0.657	ENSG00000187166	6797	g.chr12:48723149G>A	chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding							11.600036	KEEP	3	2	-1	4	5	3	2	-1	11.778704	4	5	0.363636	1	0	0	0	0	0	0	1	0	--	--		0	A				162	GBM-19-2620-TP	p.A25A	G	TGGCTGAGGCGCCTGGGCCCA	NM_181788	NP_861453	48723149	Q75WM6	H1FNT_HUMAN	0			1	387	+	A	A			Silent	25						
H2BFM	286436		GRCh37	X	103294801	103294801	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000355016.3:c.259del	p.Ser87LeufsTer2	p.S87Lfs*2	ENST00000355016	NM_001164416.1	86	gaT/ga	0																																																																																																																																																																																																																																												
H2BFWT	158983	broad.mit.edu	GRCh37	X	103267902	103267902	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01	TCGA-02-0055-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217926.5:c.331C>T	p.His111Tyr	p.H111Y	ENST00000217926	NM_001002916.4	111	Cat/Tat	0			1			A	H/Y	uc004elr.2	protein_coding	YES	CCDS35362.1			331/528									ovary(1)	1	c.(331-333)CAT>TAT			Gene3D:1.10.20.10,Pfam_domain:PF00125,Prints_domain:PR00621,hmmpanther:PTHR23428,hmmpanther:PTHR23428:SF27,SMART_domains:SM00427,Superfamily_domains:SSF47113	H2B histone family, member W, testis-specific				ENSP00000354723		3-Jan									COSM2149033	3-Jan	.		ENST00000217926	Transcript			nucleosome assembly	nuclear membrane|nucleosome	DNA binding	ENSG00000123569	g.chrX:103267902G>A	27252			MODERATE		1.155	low	getma.org/?cm=msa&ty=f&p=H2BWT_HUMAN&rb=75&re=145&var=H111Y	getma.org/pdb.php?prot=H2BWT_HUMAN&from=75&to=145&var=H111Y	getma.org/?cm=var&var=hg19,X,103267902,G,A&fts=all	H111Y	--	--	1																																			1	1		possibly_damaging(0.834)	p.H111Y	NM_001002916	NP_001002916		tolerated(0.09)	1	H2BWT_HUMAN	H2BFWT	HGNC	Q7Z2G1	H2BWT_HUMAN					1	355	-			UPI000019736A	111					SNV	H2BFWT,missense_variant,p.His111Tyr,ENST00000217926,NM_001002916.4;H2BFM,upstream_gene_variant,,ENST00000243297,;	uc004elr.2	c.331C>T	358/894	1	1			c.331C>T						23	SNP	c.(331-333)CAT>TAT	54	54			ovary(1)	1	Broad	H2B histone family, member W, testis-specific			103267902		0.637	ENSG00000123569	6806	g.chrX:103267902G>A	nucleosome assembly	nuclear membrane|nucleosome	DNA binding							131.574089	KEEP	25	27	-1	30	39	25	27	-1	132.029038	30	39	0.431193	1	0	0	0	0	1	0	0	0	--	--		0	A				4	GBM-02-0055-TP	p.H111Y	G	AATATGTCATGAACCAAAGAA	NM_001002916	NP_001002916	103267902	Q7Z2G1	H2BWT_HUMAN	0			1	355	-	A	A			Missense_Mutation	111						
H3F3C	440093	broad.mit.edu	GRCh37	12	31944878	31944878	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs141415515		TCGA-06-5856-01	TCGA-06-5856-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340398.3:c.223G>A	p.Ala75Thr	p.A75T	ENST00000340398	NM_001013699.2	75	Gcg/Acg	0	G:0.0002	T:0.0008	1	T:0		T	A/T	uc001rkr.2	protein_coding	YES	CCDS31769.1			223/408										0	c.(223-225)GCG>ACG			Gene3D:1.10.20.10,Pfam_domain:PF00125,hmmpanther:PTHR11426,SMART_domains:SM00428,Superfamily_domains:SSF47113	histone H3-like		T:0	G:0	ENSP00000339835	T:0	1-Jan	8.24E-06	9.61E-05							rs141415515,COSM3398668	1-Jan	.		ENST00000340398	Transcript		T:0.0002	nucleosome assembly	nucleosome|nucleus	DNA binding	ENSG00000188375	g.chr12:31944878C>T	33164			MODERATE		2.2	medium	getma.org/?cm=msa&ty=f&p=H3C_HUMAN&rb=57&re=131&var=A75T	getma.org/pdb.php?prot=H3C_HUMAN&from=57&to=131&var=A75T	getma.org/?cm=var&var=hg19,12,31944878,C,T&fts=all	A75T	--	--	1				HNSCC(67;0.2)																															0,1	1		benign(0.346)	p.A75T	NM_001013699	NP_001013721	T:0	deleterious_low_confidence(0.01)	0,1	H3C_HUMAN	H3F3C	HGNC	Q6NXT2	H3C_HUMAN					1	298	-			UPI0000185FBF	75					SNV	H3F3C,missense_variant,p.Ala75Thr,ENST00000340398,NM_001013699.2;	uc001rkr.2	c.223G>A	298/1053	2	2			c.223G>A						12	SNP	c.(223-225)GCG>ACG	35	35				0	Broad	histone H3-like			31944878		0.587	ENSG00000188375	6809	g.chr12:31944878C>T	nucleosome assembly	nucleosome|nucleus	DNA binding							-23.736936	KEEP	1	5	-1	71	79	1	5	-1	8.483155	71	79	0.036232	1	0	0	0	0	1	0	0	0	--	--	HNSCC(67;0.2)	0	T				101	GBM-06-5856-TP	p.A75T	C	AAATCCTGCGCGATCTCCCTC	NM_001013699	NP_001013721	31944878	Q6NXT2	H3C_HUMAN	0			1	298	-	T	T			Missense_Mutation	75						
H3F3C	440093		GRCh37	12	31944946	31944946	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000340398.3:c.155G>A	p.Arg52His	p.R52H	ENST00000340398	NM_001013699.2	52	cGt/cAt	0																																																																																																																																																																																																																																												
HABP2	3026		GRCh37	10	115341658	115341658	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000351270.3:c.862C>A	p.Pro288Thr	p.P288T	ENST00000351270	NM_004132.3	288	Ccc/Acc	0																																																																																																																																																																																																																																												
HAGH	0	broad.mit.edu	GRCh37	16	1867224	1867224	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs150713216		TCGA-32-4719-01	TCGA-32-4719-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397356.3:c.590C>T	p.Ala197Val	p.A197V	ENST00000397356	NM_005326.4	197	gCg/gTg	0	A:0.0002		1			A	A/V	uc002cna.2	protein_coding	YES	CCDS10447.2			590/927									ovary(1)	1	c.(589-591)GCG>GTG			HAMAP:MF_01374,hmmpanther:PTHR11935,hmmpanther:PTHR11935:SF80,Pfam_domain:PF00753,Gene3D:3.60.15.10,TIGRFAM_domain:TIGR03413,PIRSF_domain:PIRSF005457,SMART_domains:SM00849,Superfamily_domains:SSF56281	hydroxyacylglutathione hydrolase isoform 1	Glutathione(DB00143)		A:0	ENSP00000380514		9-Jun									rs150713216,COSM2157403,COSM2157402	9-Jun	.		ENST00000397356	Transcript			glutathione biosynthetic process	cytoplasm|mitochondrial matrix|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding	ENSG00000063854	g.chr16:1867224G>A	4805			MODERATE		2.67	medium	getma.org/?cm=msa&ty=f&p=GLO2_HUMAN&rb=55&re=221&var=A197V	getma.org/pdb.php?prot=GLO2_HUMAN&from=55&to=221&var=A197V	getma.org/?cm=var&var=hg19,16,1867224,G,A&fts=all	A197V	--	--	1																																		HAGH_uc002cmz.2_Missense_Mutation_p.A149V|HAGH_uc010uvp.1_Missense_Mutation_p.R161W|HAGH_uc002cnb.1_Missense_Mutation_p.A149V	0,1,1	1		probably_damaging(0.991)	p.A197V	NM_005326	NP_005317		deleterious(0.01)	0,1,1	GLO2_HUMAN	HAGH	HGNC	Q16775	GLO2_HUMAN			H3BV79_HUMAN,H3BQW8_HUMAN,B4DT01_HUMAN		6	997	-		Hepatocellular(780;0.00335)	UPI00001FFAD0	197					SNV	HAGH,missense_variant,p.Ala197Val,ENST00000397356,NM_005326.4;HAGH,missense_variant,p.Ala149Val,ENST00000566709,;HAGH,missense_variant,p.Arg161Trp,ENST00000455446,NM_001286249.1;HAGH,missense_variant,p.Ala149Val,ENST00000397353,NM_001040427.1;HAGH,missense_variant,p.Ala128Val,ENST00000564445,;HAGH,missense_variant,p.Ala149Val,ENST00000569339,;HAGH,upstream_gene_variant,,ENST00000566644,;HAGH,upstream_gene_variant,,ENST00000567398,;HAGH,downstream_gene_variant,,ENST00000569700,;HAGH,downstream_gene_variant,,ENST00000565097,;HAGH,downstream_gene_variant,,ENST00000564518,;HAGH,downstream_gene_variant,,ENST00000567190,;	uc002cna.2	c.590C>T	997/1744	2	2			c.590C>T						16	SNP	c.(589-591)GCG>GTG	27	27			ovary(1)	1	Broad	hydroxyacylglutathione hydrolase isoform 1		Glutathione(DB00143)	1867224		0.637	ENSG00000063854	6819	g.chr16:1867224G>A	glutathione biosynthetic process	cytoplasm|mitochondrial matrix|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding	Pancreas(55;1048 1176 25227 40124 41333)			Pancreas(55;1048 1176 25227 40124 41333)			91.254563	KEEP	18	18	-1	24	19	18	18	-1	91.50692	24	19	0.434783	1	0	0	0	0	1	0	0	0	--	--		0	A			HAGH_uc002cmz.2_Missense_Mutation_p.A149V|HAGH_uc010uvp.1_Missense_Mutation_p.R161W|HAGH_uc002cnb.1_Missense_Mutation_p.A149V	248	GBM-32-4719-TP	p.A197V	G	CATCTCATCCGCAGTCCCTTC	NM_005326	NP_005317	1867224	Q16775	GLO2_HUMAN	0			6	997	-	A	A		Hepatocellular(780;0.00335)	Missense_Mutation	197						
HAL	3034	broad.mit.edu	GRCh37	12	96389631	96389631	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01	TCGA-06-0195-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261208.3:c.58G>A	p.Ala20Thr	p.A20T	ENST00000261208	NM_002108.3	20	Gcg/Acg	0			1			T	A/T	uc001tem.1	protein_coding	YES	CCDS9058.1			58/1974									ovary(2)|skin(1)	3	c.(58-60)GCG>ACG			hmmpanther:PTHR10362,hmmpanther:PTHR10362:SF7	histidine ammonia-lyase	L-Histidine(DB00117)			ENSP00000261208		21-Feb									COSM3399201	21-Feb	.		ENST00000261208	Transcript	1		biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	ENSG00000084110	g.chr12:96389631C>T	4806			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=HUTH_HUMAN&rb=1&re=89&var=A20T	NA	getma.org/?cm=var&var=hg19,12,96389631,C,T&fts=all	A20T	--	--	1																																		HAL_uc009zti.1_RNA|HAL_uc010suw.1_5'UTR|HAL_uc010sux.1_Missense_Mutation_p.A20T	1	1		benign(0.002)	p.A20T	NM_002108	NP_002099		tolerated_low_confidence(0.85)	1	HUTH_HUMAN	HAL	HGNC	P42357	HUTH_HUMAN			Q2PH61_HUMAN,Q2PH60_HUMAN,Q2PH56_HUMAN		2	355	-			UPI000012CE8E	20					SNV	HAL,missense_variant,p.Ala20Thr,ENST00000261208,NM_002108.3;HAL,missense_variant,p.Ala20Thr,ENST00000538703,NM_001258334.1;HAL,missense_variant,p.Ala20Thr,ENST00000552509,;HAL,5_prime_UTR_variant,,ENST00000541929,NM_001258333.1;LTA4H,downstream_gene_variant,,ENST00000228740,NM_000895.2;LTA4H,downstream_gene_variant,,ENST00000552789,NM_001256643.1;HAL,upstream_gene_variant,,ENST00000546579,;RP11-256L6.3,upstream_gene_variant,,ENST00000551849,;HAL,missense_variant,p.Ala20Thr,ENST00000544080,;HAL,missense_variant,p.Ala20Thr,ENST00000546999,;LTA4H,downstream_gene_variant,,ENST00000553041,;LTA4H,downstream_gene_variant,,ENST00000537111,;HAL,upstream_gene_variant,,ENST00000549376,;	uc001tem.1	c.58G>A	427/3913	2	2			c.58G>A						12	SNP	c.(58-60)GCG>ACG	45	45			ovary(2)|skin(1)	3	Broad	histidine ammonia-lyase		L-Histidine(DB00117)	96389631		0.642	ENSG00000084110	6821	g.chr12:96389631C>T	biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	NSCLC(169;943 2815 23563 30031)			NSCLC(169;943 2815 23563 30031)			31.320804	KEEP	9	7	-1	15	9	9	7	-1	31.357224	15	9	0.458333	1	0	0	0	0	1	0	0	0	--	--		0	T			HAL_uc009zti.1_RNA|HAL_uc010suw.1_5'UTR|HAL_uc010sux.1_Missense_Mutation_p.A20T	45	GBM-06-0195-TP	p.A20T	C	GTGAGCTGCGCGTCCTGGCAG	NM_002108	NP_002099	96389631	P42357	HUTH_HUMAN	0			2	355	-	T	T			Missense_Mutation	20						
HAL	0	broad.mit.edu	GRCh37	12	96389510	96389510	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01	TCGA-06-6391-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261208.3:c.179G>A	p.Gly60Asp	p.G60D	ENST00000261208	NM_002108.3	60	gGc/gAc	0			1			T	G/D	uc001tem.1	protein_coding	YES	CCDS9058.1			179/1974									ovary(2)|skin(1)	3	c.(178-180)GGC>GAC			hmmpanther:PTHR10362,hmmpanther:PTHR10362:SF7	histidine ammonia-lyase	L-Histidine(DB00117)			ENSP00000261208		21-Feb										21-Feb	.		ENST00000261208	Transcript	1		biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	ENSG00000084110	g.chr12:96389510C>T	4806			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=HUTH_HUMAN&rb=1&re=89&var=G60D	NA	getma.org/?cm=var&var=hg19,12,96389510,C,T&fts=all	G60D	--	--	1																																		HAL_uc009zti.1_RNA|HAL_uc010suw.1_5'UTR|HAL_uc010sux.1_Missense_Mutation_p.G60D		1		benign(0.078)	p.G60D	NM_002108	NP_002099		tolerated_low_confidence(0.1)		HUTH_HUMAN	HAL	HGNC	P42357	HUTH_HUMAN			Q2PH61_HUMAN,Q2PH60_HUMAN,Q2PH56_HUMAN		2	476	-			UPI000012CE8E	60					SNV	HAL,missense_variant,p.Gly60Asp,ENST00000261208,NM_002108.3;HAL,missense_variant,p.Gly60Asp,ENST00000538703,NM_001258334.1;HAL,missense_variant,p.Gly60Asp,ENST00000552509,;HAL,5_prime_UTR_variant,,ENST00000541929,NM_001258333.1;HAL,upstream_gene_variant,,ENST00000546579,;RP11-256L6.3,upstream_gene_variant,,ENST00000551849,;HAL,missense_variant,p.Gly60Asp,ENST00000544080,;HAL,missense_variant,p.Gly60Asp,ENST00000546999,;HAL,upstream_gene_variant,,ENST00000549376,;	uc001tem.1	c.179G>A	548/3913	2	2			c.179G>A						12	SNP	c.(178-180)GGC>GAC	42	42			ovary(2)|skin(1)	3	Broad	histidine ammonia-lyase		L-Histidine(DB00117)	96389510		0.642	ENSG00000084110	6821	g.chr12:96389510C>T	biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	NSCLC(169;943 2815 23563 30031)			NSCLC(169;943 2815 23563 30031)			45.312653	KEEP	11	11	-1	28	40	11	11	-1	49.940037	28	40	0.24	1	0	0	0	0	1	0	0	0	--	--		0	T			HAL_uc009zti.1_RNA|HAL_uc010suw.1_5'UTR|HAL_uc010sux.1_Missense_Mutation_p.G60D	107	GBM-06-6391-TP	p.G60D	C	CAGGCCCAGGCCCTTGCACCG	NM_002108	NP_002099	96389510	P42357	HUTH_HUMAN	0			2	476	-	T	T			Missense_Mutation	60						
HAO1	54363	broad.mit.edu	GRCh37	20	7864254	7864254	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0157-01	TCGA-06-0157-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378789.3:c.1099G>A	p.Val367Ile	p.V367I	ENST00000378789	NM_017545.2	367	Gtt/Att	0	T:0		1			T	V/I	uc002wmw.1	protein_coding	YES	CCDS13100.1			1099/1113									ovary(3)	3	c.(1099-1101)GTT>ATT				hydroxyacid oxidase 1			T:0.0001	ENSP00000368066		8-Aug	9.06E-05					0.00015		6.06E-05	rs373454999,COSM2150091	8-Aug	.		ENST00000378789	Transcript			cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	ENSG00000101323	g.chr20:7864254C>T	4809			MODERATE		-0.55	neutral	getma.org/?cm=msa&ty=f&p=HAOX1_HUMAN&rb=333&re=370&var=V367I	getma.org/pdb.php?prot=HAOX1_HUMAN&from=363&to=370&var=V367I	getma.org/?cm=var&var=hg19,20,7864254,C,T&fts=all	V367I	--	--	1																																			0,1	1		benign(0.001)	p.V367I	NM_017545	NP_060015		tolerated(0.55)	0,1	HAOX1_HUMAN	HAO1	HGNC	Q9UJM8	HAOX1_HUMAN			A8K058_HUMAN		8	1123	-			UPI000012C08B	367					SNV	HAO1,missense_variant,p.Val367Ile,ENST00000378789,NM_017545.2;	uc002wmw.1	c.1099G>A	1151/1777	1	1			c.1099G>A						20	SNP	c.(1099-1101)GTT>ATT	10	10			ovary(3)	3	Broad	hydroxyacid oxidase 1			7864254		0.373	ENSG00000101323	6825	g.chr20:7864254C>T	cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity							122.344523	KEEP	33	26	-1	64	54	33	26	-1	126.360176	64	54	0.321678	1	0	0	0	0	1	0	0	0	--	--		0	T				28	GBM-06-0157-TP	p.V367I	C	ATCTTGGAAACGGCCAAAGGA	NM_017545	NP_060015	7864254	Q9UJM8	HAOX1_HUMAN	0			8	1123	-	T	T			Missense_Mutation	367						
HAO1	0	broad.mit.edu	GRCh37	20	7915230	7915230	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-27-1834-01	TCGA-27-1834-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378789.3:c.190A>C	p.Thr64Pro	p.T64P	ENST00000378789	NM_017545.2	64	Act/Cct	0			1			G	T/P	uc002wmw.1	protein_coding	YES	CCDS13100.1			190/1113									ovary(3)	3	c.(190-192)ACT>CCT			PROSITE_profiles:PS51349,hmmpanther:PTHR10578,hmmpanther:PTHR10578:SF63,Gene3D:3.20.20.70,Pfam_domain:PF01070,PIRSF_domain:PIRSF000138,Superfamily_domains:SSF51395	hydroxyacid oxidase 1				ENSP00000368066		8-Feb									COSM3405299	8-Feb	.		ENST00000378789	Transcript			cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	ENSG00000101323	g.chr20:7915230T>G	4809			MODERATE		3.76	high	getma.org/?cm=msa&ty=f&p=HAOX1_HUMAN&rb=15&re=362&var=T64P	getma.org/pdb.php?prot=HAOX1_HUMAN&from=15&to=362&var=T64P	getma.org/?cm=var&var=hg19,20,7915230,T,G&fts=all	T64P	--	--	1																																		HAO1_uc010gbu.2_Missense_Mutation_p.T64P	1	1		probably_damaging(0.958)	p.T64P	NM_017545	NP_060015		deleterious(0)	1	HAOX1_HUMAN	HAO1	HGNC	Q9UJM8	HAOX1_HUMAN			A8K058_HUMAN		2	214	-			UPI000012C08B	64			FMN hydroxy acid dehydrogenase.		SNV	HAO1,missense_variant,p.Thr64Pro,ENST00000378789,NM_017545.2;	uc002wmw.1	c.190A>C	242/1777	3	3			c.190A>C						20	SNP	c.(190-192)ACT>CCT	61	61			ovary(3)	3	Broad	hydroxyacid oxidase 1			7915230		0.458	ENSG00000101323	6825	g.chr20:7915230T>G	cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity							-37.963647	KEEP	4	0	-1	73	112	4	0	-1	8.174678	73	112	0.022099	1	0	0	0	0	1	0	0	0	--	--		0	G			HAO1_uc010gbu.2_Missense_Mutation_p.T64P	193	GBM-27-1834-TP	p.T64P	T	AAAACAGAAGTCGACAGATCT	NM_017545	NP_060015	7915230	Q9UJM8	HAOX1_HUMAN	0			2	214	-	G	G			Missense_Mutation	64			FMN hydroxy acid dehydrogenase.			
HAO2	51179		GRCh37	1	119925581	119925581	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000325945.3:c.175G>T	p.Asp59Tyr	p.D59Y	ENST00000325945	NM_016527.2	59	Gac/Tac	0																																																																																																																																																																																																																																												
HAPLN3	145864	broad.mit.edu	GRCh37	15	89421300	89421300	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2562-01	TCGA-06-2562-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359595.3:c.984G>A	p.Pro328=	p.P328=	ENST00000359595	NM_178232.2	328	ccG/ccA	0			1			T	P	uc002bnc.2	protein_coding	YES	CCDS10346.1			984/1083										0	c.(982-984)CCG>CCA			Gene3D:3.10.100.10,Pfam_domain:PF00193,PROSITE_patterns:PS01241,PROSITE_profiles:PS50963,hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF40,SMART_domains:SM00445,Superfamily_domains:SSF56436	hyaluronan and proteoglycan link protein 3				ENSP00000352606		5-May									rs528539488,COSM3401997	5-May	.		ENST00000359595	Transcript			cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	ENSG00000140511	g.chr15:89421300C>T	21446			LOW								--	--	1																																		HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Silent_p.P390P	0,1	1			p.P328P	NM_178232	NP_839946			0,1	HPLN3_HUMAN	HAPLN3	HGNC	Q96S86	HPLN3_HUMAN					5	1112	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		UPI0000048EB3	328			Link 2.		SNV	HAPLN3,synonymous_variant,p.=,ENST00000359595,NM_178232.2;HAPLN3,synonymous_variant,p.=,ENST00000562889,;ACAN,downstream_gene_variant,,ENST00000439576,NM_013227.3;ACAN,downstream_gene_variant,,ENST00000559004,;ACAN,downstream_gene_variant,,ENST00000561243,;ACAN,downstream_gene_variant,,ENST00000352105,NM_001135.3;HAPLN3,downstream_gene_variant,,ENST00000562281,;ACAN,downstream_gene_variant,,ENST00000558704,;HAPLN3,3_prime_UTR_variant,,ENST00000558770,;HAPLN3,downstream_gene_variant,,ENST00000563808,;ACAN,downstream_gene_variant,,ENST00000558604,;	uc002bnc.2	c.984G>A	1199/1980	1	1			c.984G>A						15	SNP	c.(982-984)CCG>CCA	1	1				0	Broad	hyaluronan and proteoglycan link protein 3			89421300		0.642	ENSG00000140511	6830	g.chr15:89421300C>T	cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding							-38.290945	KEEP	2	3	-1	123	113	2	3	-1	8.474659	123	113	0.026455	1	0	0	0	0	0	0	1	0	--	--		0	T			HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Silent_p.P390P	85	GBM-06-2562-TP	p.P328P	C	AGTTAGGATGCGGGTGAACCA	NM_178232	NP_839946	89421300	Q96S86	HPLN3_HUMAN	0			5	1112	-	T	T	Lung NSC(78;0.0392)|all_lung(78;0.077)		Silent	328			Link 2.			
HARBI1	0	broad.mit.edu	GRCh37	11	46637480	46637480	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01	TCGA-14-0790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326737.3:c.308G>A	p.Cys103Tyr	p.C103Y	ENST00000326737	NM_173811.3	103	tGt/tAt	0			1			T	C/Y	uc001ncy.2	protein_coding	YES	CCDS7920.1			308/1050										0	c.(307-309)TGT>TAT			Prints_domain:PR02086,hmmpanther:PTHR22930,hmmpanther:PTHR22930:SF8	harbinger transposase derived 1				ENSP00000317743		3-Feb									COSM3397706	3-Feb	.		ENST00000326737	Transcript				cytoplasm|nucleus	metal ion binding|nuclease activity	ENSG00000180423	g.chr11:46637480C>T	26522			MODERATE		2.475	medium	getma.org/?cm=msa&ty=f&p=HARB1_HUMAN&rb=52&re=147&var=C103Y	NA	getma.org/?cm=var&var=hg19,11,46637480,C,T&fts=all	C103Y	--	--	1																																		KIAA0652_uc009yld.2_5'Flank|KIAA0652_uc001nda.2_5'Flank|KIAA0652_uc001ndb.2_5'Flank|KIAA0652_uc001ncz.2_5'Flank|KIAA0652_uc001ndc.2_5'Flank|KIAA0652_uc010rgv.1_5'Flank	1	1		probably_damaging(0.997)	p.C103Y	NM_173811	NP_776172		tolerated(0.09)	1	HARB1_HUMAN	HARBI1	HGNC	Q96MB7	HARB1_HUMAN			E9PQI1_HUMAN,E9PK24_HUMAN		2	556	-			UPI000004D30B	103					SNV	HARBI1,missense_variant,p.Cys103Tyr,ENST00000326737,NM_173811.3;ATG13,upstream_gene_variant,,ENST00000434074,NM_001205120.1;ATG13,upstream_gene_variant,,ENST00000312040,NM_001142673.2;ATG13,upstream_gene_variant,,ENST00000451945,;ATG13,upstream_gene_variant,,ENST00000359513,;ATG13,upstream_gene_variant,,ENST00000526508,;ATG13,upstream_gene_variant,,ENST00000524625,NM_014741.4;ATG13,upstream_gene_variant,,ENST00000529655,NM_001205121.1;ATG13,upstream_gene_variant,,ENST00000528494,NM_001205119.1;ATG13,upstream_gene_variant,,ENST00000530500,NM_001205122.1;ATG13,upstream_gene_variant,,ENST00000533325,;ATG13,upstream_gene_variant,,ENST00000395549,;ATG13,upstream_gene_variant,,ENST00000581416,;HARBI1,downstream_gene_variant,,ENST00000529192,;ATG13,upstream_gene_variant,,ENST00000580238,;HARBI1,downstream_gene_variant,,ENST00000532281,;ATG13,upstream_gene_variant,,ENST00000581438,;ATG13,upstream_gene_variant,,ENST00000577256,;ATG13,upstream_gene_variant,,ENST00000582547,;ATG13,upstream_gene_variant,,ENST00000578626,;ATG13,upstream_gene_variant,,ENST00000583249,;ATG13,upstream_gene_variant,,ENST00000526715,;ATG13,upstream_gene_variant,,ENST00000530942,;ATG13,upstream_gene_variant,,ENST00000579280,;ATG13,upstream_gene_variant,,ENST00000534610,;	uc001ncy.2	c.308G>A	556/1967	2	2			c.308G>A						11	SNP	c.(307-309)TGT>TAT	18	18				0	Broad	harbinger transposase derived 1			46637480		0.488	ENSG00000180423	6832	g.chr11:46637480C>T		cytoplasm|nucleus	metal ion binding|nuclease activity							319.44368	KEEP	45	73	-1	78	83	45	73	-1	320.170928	78	83	0.442688	1	0	0	0	0	1	0	0	0	--	--		0	T			KIAA0652_uc009yld.2_5'Flank|KIAA0652_uc001nda.2_5'Flank|KIAA0652_uc001ndb.2_5'Flank|KIAA0652_uc001ncz.2_5'Flank|KIAA0652_uc001ndc.2_5'Flank|KIAA0652_uc010rgv.1_5'Flank	137	GBM-14-0790-TP	p.C103Y	C	ATTGGCAACACAACGACTCAT	NM_173811	NP_776172	46637480	Q96MB7	HARB1_HUMAN	0			2	556	-	T	T			Missense_Mutation	103						
HARS	0	broad.mit.edu	GRCh37	5	140056309	140056309	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs151258227		TCGA-27-2524-01	TCGA-27-2524-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504156.1:c.1124G>A	p.Arg375His	p.R375H	ENST00000504156	NM_002109.4	375	cGc/cAc	0	T:0		1			T	R/H	uc003lgv.2	protein_coding	YES	CCDS4237.1			1124/1530									ovary(1)|skin(1)	2	c.(1123-1125)CGC>CAC			Gene3D:3.30.930.10,HAMAP:MF_00127,Pfam_domain:PF13393,PIRSF_domain:PIRSF001549,PROSITE_profiles:PS50862,hmmpanther:PTHR11476,hmmpanther:PTHR11476:SF3,Superfamily_domains:SSF55681,TIGRFAM_domain:TIGR00442	histidyl-tRNA synthetase	L-Histidine(DB00117)		T:0.0001	ENSP00000425634		13-Oct	9.88E-05			0.00127		1.50E-05			rs151258227,COSM1209302,COSM1209303	13-Oct	common_variant		ENST00000504156	Transcript	1		histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity	ENSG00000170445	g.chr5:140056309C>T	4816			MODERATE		1.11	low	getma.org/?cm=msa&ty=f&p=SYHC_HUMAN&rb=235&re=409&var=R375H	getma.org/pdb.php?prot=SYHC_HUMAN&from=235&to=409&var=R375H	getma.org/?cm=var&var=hg19,5,140056309,C,T&fts=all	R375H	--	--	1																																		HARS_uc003lgu.2_Missense_Mutation_p.R306H|HARS_uc011czm.1_Missense_Mutation_p.R335H|HARS_uc003lgw.2_Missense_Mutation_p.R355H|HARS_uc011czn.1_Missense_Mutation_p.R315H|HARS_uc010jfu.2_Missense_Mutation_p.R375H|HARS_uc011czo.1_Missense_Mutation_p.R301H|HARS_uc011czp.1_Missense_Mutation_p.R261H|HARS_uc011czq.1_Missense_Mutation_p.R265H	0,1,1	1		benign(0.008)	p.R375H	NM_002109	NP_002100		tolerated(0.28)	0,1,1	SYHC_HUMAN	HARS	HGNC	P12081	SYHC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		D6RF05_HUMAN,B3KWE1_HUMAN		10	1206	-			UPI00001364CE	375					SNV	HARS,missense_variant,p.Arg306His,ENST00000504366,;HARS,missense_variant,p.Arg375His,ENST00000504156,NM_002109.4;HARS,missense_variant,p.Arg355His,ENST00000457527,NM_001258041.1;HARS,missense_variant,p.Arg180His,ENST00000448240,;HARS,missense_variant,p.Arg335His,ENST00000438307,NM_001258040.1;HARS,missense_variant,p.Arg315His,ENST00000307633,NM_001258042.1;HARS,missense_variant,p.Arg261His,ENST00000431330,;HARS,missense_variant,p.Arg301His,ENST00000415192,;HARS,missense_variant,p.Arg265His,ENST00000507746,;WDR55,downstream_gene_variant,,ENST00000358337,NM_017706.4;DND1,upstream_gene_variant,,ENST00000542735,NM_194249.2;WDR55,downstream_gene_variant,,ENST00000520764,;HARS,non_coding_transcript_exon_variant,,ENST00000506579,;WDR55,downstream_gene_variant,,ENST00000511232,;WDR55,downstream_gene_variant,,ENST00000504897,;WDR55,downstream_gene_variant,,ENST00000506393,;HARS,downstream_gene_variant,,ENST00000518126,;HARS,upstream_gene_variant,,ENST00000509087,;HARS,downstream_gene_variant,,ENST00000512396,;	uc003lgv.2	c.1124G>A	1844/3334	2	2			c.1124G>A						5	SNP	c.(1123-1125)CGC>CAC	33	33			ovary(1)|skin(1)	2	Broad	histidyl-tRNA synthetase		L-Histidine(DB00117)	140056309		0.597	ENSG00000170445	6833	g.chr5:140056309C>T	histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity							-61.88592	KEEP	4	2	-1	129	152	4	2	-1	10.371153	129	152	0.021277	1	0	0	0	0	1	0	0	0	--	--		0	T			HARS_uc003lgu.2_Missense_Mutation_p.R306H|HARS_uc011czm.1_Missense_Mutation_p.R335H|HARS_uc003lgw.2_Missense_Mutation_p.R355H|HARS_uc011czn.1_Missense_Mutation_p.R315H|HARS_uc010jfu.2_Missense_Mutation_p.R375H|HARS_uc011czo.1_Missense_Mutation_p.R301H|HARS_uc011czp.1_Missense_Mutation_p.R261H|HARS_uc011czq.1_Missense_Mutation_p.R265H	202	GBM-27-2524-TP	p.R375H	C	TGGCACCTTGCGCCCTTTGGG	NM_002109	NP_002100	140056309	P12081	SYHC_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	1206	-	T	T			Missense_Mutation	375						
HAS2	3037	broad.mit.edu	GRCh37	8	122641322	122641322	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6389-01	TCGA-06-6389-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303924.4:c.259C>T	p.Leu87Phe	p.L87F	ENST00000303924	NM_005328.2	87	Ctt/Ttt	0			1			A	L/F	uc003yph.2	protein_coding	YES	CCDS6335.1			259/1659							HAS2/PLAG1(10)		soft_tissue(10)|ovary(5)	15	c.(259-261)CTT>TTT			Gene3D:3.90.550.10,hmmpanther:PTHR22913,hmmpanther:PTHR22913:SF7,Superfamily_domains:SSF53448	hyaluronan synthase 2				ENSP00000306991		4-Feb										4-Feb	.		ENST00000303924	Transcript				integral to plasma membrane	hyaluronan synthase activity	ENSG00000170961	g.chr8:122641322G>A	4819			MODERATE		1.955	medium	getma.org/?cm=msa&ty=f&p=HAS2_HUMAN&rb=1&re=198&var=L87F	NA	getma.org/?cm=var&var=hg19,8,122641322,G,A&fts=all	L87F	--	--	1																																				1		probably_damaging(0.999)	p.L87F	NM_005328	NP_005319		tolerated(0.1)		HYAS2_HUMAN	HAS2	HGNC	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)				2	797	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		UPI000012C0A9	87			Cytoplasmic (Potential).		SNV	HAS2,missense_variant,p.Leu87Phe,ENST00000303924,NM_005328.2;	uc003yph.2	c.259C>T	797/4190	2	2			c.259C>T						8	SNP	c.(259-261)CTT>TTT	33	33	HAS2/PLAG1(10)		soft_tissue(10)|ovary(5)	15	Broad	hyaluronan synthase 2			122641322		0.423	ENSG00000170961	6836	g.chr8:122641322G>A		integral to plasma membrane	hyaluronan synthase activity							-106.221298	KEEP	13	17	-1	392	384	13	17	-1	55.057038	392	384	0.036179	1	0	0	0	0	1	0	0	0	--	--		0	A				105	GBM-06-6389-TP	p.L87F	G	GCGATGCAAAGGGCAACTGTT	NM_005328	NP_005319	122641322	Q92819	HAS2_HUMAN	0	STAD - Stomach adenocarcinoma(47;0.00503)		2	797	-	A	A	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		Missense_Mutation	87			Cytoplasmic (Potential).			
HAS2	0	broad.mit.edu	GRCh37	8	122641443	122641443	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-19-5959-01	TCGA-19-5959-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303924.4:c.138T>C	p.Phe46=	p.F46=	ENST00000303924	NM_005328.2	46	ttT/ttC	0			1			G	F	uc003yph.2	protein_coding	YES	CCDS6335.1			138/1659							HAS2/PLAG1(10)		soft_tissue(10)|ovary(5)	15	c.(136-138)TTT>TTC			hmmpanther:PTHR22913,hmmpanther:PTHR22913:SF7,Transmembrane_helices:TMhelix	hyaluronan synthase 2				ENSP00000306991		4-Feb									COSM3412734	4-Feb	.		ENST00000303924	Transcript				integral to plasma membrane	hyaluronan synthase activity	ENSG00000170961	g.chr8:122641443A>G	4819			LOW								--	--	1																																			1	1			p.F46F	NM_005328	NP_005319			1	HYAS2_HUMAN	HAS2	HGNC	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)				2	676	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		UPI000012C0A9	46			Helical; Name=2; (Potential).		SNV	HAS2,synonymous_variant,p.=,ENST00000303924,NM_005328.2;	uc003yph.2	c.138T>C	676/4190	3	3			c.138T>C						8	SNP	c.(136-138)TTT>TTC	52	52	HAS2/PLAG1(10)		soft_tissue(10)|ovary(5)	15	Broad	hyaluronan synthase 2			122641443		0.418	ENSG00000170961	6836	g.chr8:122641443A>G		integral to plasma membrane	hyaluronan synthase activity							166.021093	KEEP	23	30	-1	53	58	23	30	-1	170.073892	53	58	0.329114	1	0	0	0	0	0	0	1	0	--	--		0	G				177	GBM-19-5959-TP	p.F46F	A	CATACAGTCCAAAAGAGAAAT	NM_005328	NP_005319	122641443	Q92819	HAS2_HUMAN	0	STAD - Stomach adenocarcinoma(47;0.00503)		2	676	-	G	G	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		Silent	46			Helical; Name=2; (Potential).			
HAS3	0	broad.mit.edu	GRCh37	16	69148326	69148326	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4927-01	TCGA-76-4927-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306560.1:c.819C>T	p.Cys273=	p.C273=	ENST00000306560	NM_005329.2	273	tgC/tgT	0			1			T	C	uc010cfh.2	protein_coding	YES	CCDS10871.1			819/1662										0	c.(817-819)TGC>TGT			hmmpanther:PTHR22913,hmmpanther:PTHR22913:SF6,Pfam_domain:PF13641,Gene3D:3.90.550.10,Superfamily_domains:SSF53448	hyaluronan synthase 3 isoform a				ENSP00000304440		4-Apr									COSM3402440	4-Apr	.		ENST00000306560	Transcript			carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	ENSG00000103044	g.chr16:69148326C>T	4820			LOW								--	--	1																																		HAS3_uc002ewk.2_Intron|HAS3_uc002ewl.2_Silent_p.C273C	1	1			p.C273C	NM_005329	NP_005320			1	HYAS3_HUMAN	HAS3	HGNC	O00219	HAS3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0694)	H3BRH5_HUMAN,C0KZD9_HUMAN		4	1043	+		Ovarian(137;0.101)	UPI000013EB57	273			Cytoplasmic (Potential).		SNV	HAS3,synonymous_variant,p.=,ENST00000306560,NM_005329.2;HAS3,synonymous_variant,p.=,ENST00000569188,NM_001199280.1;HAS3,intron_variant,,ENST00000219322,NM_138612.2;CHTF8,downstream_gene_variant,,ENST00000306585,NM_001040146.3;CHTF8,downstream_gene_variant,,ENST00000448552,NM_001039690.3,NM_001040146.3;CHTF8,downstream_gene_variant,,ENST00000574807,;HAS3,downstream_gene_variant,,ENST00000566118,;CHTF8,downstream_gene_variant,,ENST00000523421,;CHTF8,downstream_gene_variant,,ENST00000518041,;CHTF8,downstream_gene_variant,,ENST00000519534,;	uc010cfh.2	c.819C>T	975/4220	2	2			c.819C>T						16	SNP	c.(817-819)TGC>TGT	34	34				0	Broad	hyaluronan synthase 3 isoform a			69148326		0.552	ENSG00000103044	6837	g.chr16:69148326C>T	carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity							-31.671254	KEEP	3	2	-1	150	152	3	2	-1	9.12679	150	152	0.029762	1	0	0	0	0	0	0	1	0	--	--		0	T			HAS3_uc002ewk.2_Intron|HAS3_uc002ewl.2_Silent_p.C273C	267	GBM-76-4927-TP	p.C273C	C	AGCGGGCCTGCCAGTCCTACT	NM_005329	NP_005320	69148326	O00219	HAS3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.0694)	4	1043	+	T	T		Ovarian(137;0.101)	Silent	273			Cytoplasmic (Potential).			
HAT1	8520	broad.mit.edu	GRCh37	2	172841151	172841157	+	frameshift_variant	Frame_Shift_Del	DEL	TTGTCAA	TTGTCAA	-			TCGA-06-0190-01	TCGA-06-0190-01	TTGTCAA	TTGTCAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264108.4:c.879_885del	p.Cys294IlefsTer10	p.C294Ifs*10	ENST00000264108	NM_003642.3	293	ctTTGTCAA/ct	0			1			-	LCQ/X	uc002uhi.2	protein_coding	YES	CCDS2245.1			879-885/1260									large_intestine(1)|ovary(1)	2	c.(877-885)CTTTGTCAAfs			hmmpanther:PTHR12046,PIRSF_domain:PIRSF038084,Superfamily_domains:SSF55729	histone acetyltransferase 1				ENSP00000264108		11-Sep										11-Sep	.		ENST00000264108	Transcript			chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding	ENSG00000128708	g.chr2:172841151_172841157delTTGTCAA	4821			HIGH								--	--	1																																		HAT1_uc010fqi.2_Frame_Shift_Del_p.L128fs|HAT1_uc002uhj.2_Frame_Shift_Del_p.L208fs		1			p.L293fs	NM_003642	NP_003633				HAT1_HUMAN	HAT1	HGNC	O14929	HAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)				9	955_961	+			UPI000012C0B2	293_295					deletion	HAT1,frameshift_variant,p.Cys294IlefsTer10,ENST00000264108,NM_003642.3;HAT1,frameshift_variant,p.Cys209IlefsTer10,ENST00000392584,;SLC25A12,intron_variant,,ENST00000472748,;SLC25A12,intron_variant,,ENST00000484227,;SLC25A12,intron_variant,,ENST00000464063,;HAT1,3_prime_UTR_variant,,ENST00000457761,;HAT1,3_prime_UTR_variant,,ENST00000412731,;HAT1,non_coding_transcript_exon_variant,,ENST00000494601,;HAT1,non_coding_transcript_exon_variant,,ENST00000477327,;	uc002uhi.2	c.879_885delTTGTCAA	915-921/1626	5	5			c.879_885delTTGTCAA						2	DEL	c.(877-885)CTTTGTCAAfs	49	49			large_intestine(1)|ovary(1)	2	Broad	histone acetyltransferase 1			172841157		0.338	ENSG00000128708	6838	g.chr2:172841151_172841157delTTGTCAA	chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding																				0.13	1	1	0	1	0	0	0	0	0	--	--		0	-			HAT1_uc010fqi.2_Frame_Shift_Del_p.L128fs|HAT1_uc002uhj.2_Frame_Shift_Del_p.L208fs	43	GBM-06-0190-TP	p.L293fs	TTGTCAA	TTGTGAAGCTTTGTCAAGATTTGCCCT	NM_003642	NP_003633	172841151	O14929	HAT1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.216)		9	955_961	+	-	-			Frame_Shift_Del	293_295						
HAUS6	54801		GRCh37	9	19089520	19089520	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000380502.3:c.474A>C	p.Lys158Asn	p.K158N	ENST00000380502	NM_017645.4	158	aaA/aaC	0																																																																																																																																																																																																																																												
HAUS7	0	broad.mit.edu	GRCh37	X	152735936	152735936	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01	TCGA-12-0616-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370211.4:c.110C>T	p.Ala37Val	p.A37V	ENST00000370211	NM_017518.7	37	gCg/gTg	0			1			A	A/V	uc004fho.1	protein_coding	YES	CCDS35438.1			110/1107										0	c.(109-111)GCG>GTG			hmmpanther:PTHR14352,hmmpanther:PTHR14352:SF2	HAUS augmin-like complex subunit 7				ENSP00000359230		10-Jan									COSM2153542	10-Jan	.		ENST00000370211	Transcript			cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding	ENSG00000213397	g.chrX:152735936G>A	32979			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=HAUS7_HUMAN&rb=11&re=358&var=A37V	NA	getma.org/?cm=var&var=hg19,X,152735936,G,A&fts=all	A37V	--	--	1																																		HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA|HAUS7_uc004fhn.1_Missense_Mutation_p.A37V|HAUS7_uc004fhp.1_RNA|HAUS7_uc011myq.1_RNA	1	1		possibly_damaging(0.876)	p.A37V	NM_017518	NP_059988		tolerated(0.07)	1	HAUS7_HUMAN	HAUS7	HGNC	Q99871	HAUS7_HUMAN					1	668	-			UPI00000731E0	37					SNV	HAUS7,missense_variant,p.Ala27Val,ENST00000370210,;HAUS7,missense_variant,p.Ala37Val,ENST00000370211,NM_017518.7;HAUS7,missense_variant,p.Ala37Val,ENST00000370212,;TREX2,5_prime_UTR_variant,,ENST00000330912,;HAUS7,5_prime_UTR_variant,,ENST00000421080,;TREX2,5_prime_UTR_variant,,ENST00000338525,;TREX2,5_prime_UTR_variant,,ENST00000334497,;TREX2,5_prime_UTR_variant,,ENST00000370232,;HAUS7,non_coding_transcript_exon_variant,,ENST00000464993,;HAUS7,non_coding_transcript_exon_variant,,ENST00000490165,;HAUS7,non_coding_transcript_exon_variant,,ENST00000490453,;	uc004fho.1	c.110C>T	154/1363	2	2			c.110C>T						23	SNP	c.(109-111)GCG>GTG	33	33				0	Broad	HAUS augmin-like complex subunit 7			152735936		0.726	ENSG00000213397	6845	g.chrX:152735936G>A	cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding							30.412352	KEEP	4	7	-1	13	14	4	7	-1	31.352708	13	14	0.323529	1	0	0	0	0	1	0	0	0	--	--		0	A			HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA|HAUS7_uc004fhn.1_Missense_Mutation_p.A37V|HAUS7_uc004fhp.1_RNA|HAUS7_uc011myq.1_RNA	118	GBM-12-0616-TP	p.A37V	G	CTCCACAGCCGCCCTGGACAC	NM_017518	NP_059988	152735936	Q99871	HAUS7_HUMAN	0			1	668	-	A	A			Missense_Mutation	37						
HAUS8	93323	broad.mit.edu	GRCh37	19	17160706	17160707	+	frameshift_variant	Frame_Shift_Del	DEL	GA	GA	-			TCGA-06-5418-01	TCGA-06-5418-01	GA	GA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000253669.5:c.1209_1210del	p.Arg404PhefsTer16	p.R404Ffs*16	ENST00000253669		403	tcTCgt/tcgt	0			1			-	SR/SX	uc002nfe.2	protein_coding	YES	CCDS32948.1			1209-1210/1233										0	c.(1207-1212)TCTCGTfs				sarcoma antigen NY-SAR-48 isoform a				ENSP00000253669		11-Nov									rs758657291,COSM992644	11-Nov	.		ENST00000253669	Transcript			cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		ENSG00000131351	g.chr19:17160706_17160707delGA	30532			HIGH								--	--	1																																		HAUS8_uc002nff.2_Frame_Shift_Del_p.S402fs|HAUS8_uc002nfg.1_Frame_Shift_Del_p.S341fs|HAUS8_uc002nfh.1_Frame_Shift_Del_p.S402fs	0,1	1			p.S403fs	NM_033417	NP_219485			0,1	HAUS8_HUMAN	HAUS8	HGNC	Q9BT25	HAUS8_HUMAN					11	1320_1321	-			UPI000015FED6	403_404					deletion	HAUS8,frameshift_variant,p.Arg343PhefsTer16,ENST00000593360,;HAUS8,frameshift_variant,p.Arg404PhefsTer16,ENST00000253669,;HAUS8,frameshift_variant,p.Arg403PhefsTer16,ENST00000448593,NM_033417.1,NM_001011699.1;CTD-2528A14.3,upstream_gene_variant,,ENST00000598893,;HAUS8,non_coding_transcript_exon_variant,,ENST00000597917,;HAUS8,downstream_gene_variant,,ENST00000597479,;HAUS8,downstream_gene_variant,,ENST00000598517,;HAUS8,downstream_gene_variant,,ENST00000601564,;	uc002nfe.2	c.1209_1210delTC	1400-1401/1568	5	5			c.1209_1210delTC						19	DEL	c.(1207-1212)TCTCGTfs	21	21				0	Broad	sarcoma antigen NY-SAR-48 isoform a			17160707		0.495	ENSG00000131351	6846	g.chr19:17160706_17160707delGA	cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole																					0.02	1	1	0	1	0	0	0	0	0	--	--		0	-			HAUS8_uc002nff.2_Frame_Shift_Del_p.S402fs|HAUS8_uc002nfg.1_Frame_Shift_Del_p.S341fs|HAUS8_uc002nfh.1_Frame_Shift_Del_p.S402fs	100	GBM-06-5418-TP	p.S403fs	GA	CTCCCTGAACGAGAGAGAGAGG	NM_033417	NP_219485	17160706	Q9BT25	HAUS8_HUMAN	0			11	1320_1321	-	-	-			Frame_Shift_Del	403_404						
HAVCR1	0	broad.mit.edu	GRCh37	5	156476070	156476070	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01	TCGA-14-3476-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339252.3:c.760C>T	p.Pro254Ser	p.P254S	ENST00000339252	NM_012206.2	254	Cca/Tca	0			1			A	P/S	uc010jij.1	protein_coding	YES	CCDS43392.1			760/1095									ovary(1)|skin(1)	2	c.(760-762)CCA>TCA			hmmpanther:PTHR15498:SF8,hmmpanther:PTHR15498	hepatitis A virus cellular receptor 1				ENSP00000344844		8-Apr									COSM3410050,COSM3410051	8-Apr	.		ENST00000339252	Transcript			interspecies interaction between organisms	integral to membrane	receptor activity	ENSG00000113249	g.chr5:156476070G>A	17866			MODERATE		1.665	low	getma.org/?cm=msa&ty=f&p=HAVR1_HUMAN&rb=143&re=357&var=P249S	NA	getma.org/?cm=var&var=hg19,5,156476070,G,A&fts=all	P249S	--	--	1																																		HAVCR1_uc011ddl.1_Missense_Mutation_p.P85S|HAVCR1_uc003lwi.2_Missense_Mutation_p.P254S	1,1	1		probably_damaging(0.932)	p.P254S	NM_001099414	NP_001092884		deleterious(0.02)	1,1	HAVR1_HUMAN	HAVCR1	HGNC	Q96D42	HAVR1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		E5RIF6_HUMAN		5	945	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	UPI000006EEEC	249			Extracellular (Potential).		SNV	HAVCR1,missense_variant,p.Pro254Ser,ENST00000339252,NM_012206.2;HAVCR1,missense_variant,p.Pro254Ser,ENST00000425854,;HAVCR1,missense_variant,p.Pro254Ser,ENST00000522693,;HAVCR1,missense_variant,p.Pro254Ser,ENST00000544197,NM_001099414.1;HAVCR1,missense_variant,p.Pro254Ser,ENST00000523175,NM_001173393.1;HAVCR1,downstream_gene_variant,,ENST00000518745,;HAVCR1,non_coding_transcript_exon_variant,,ENST00000517644,;	uc010jij.1	c.760C>T	1293/1845	2	2			c.760C>T						5	SNP	c.(760-762)CCA>TCA	24	24			ovary(1)|skin(1)	2	Broad	hepatitis A virus cellular receptor 1			156476070		0.438	ENSG00000113249	6847	g.chr5:156476070G>A	interspecies interaction between organisms	integral to membrane	receptor activity							141.927645	KEEP	24	38	-1	74	106	24	38	-1	154.772788	74	106	0.247748	1	0	0	0	0	1	0	0	0	--	--		0	A			HAVCR1_uc011ddl.1_Missense_Mutation_p.P85S|HAVCR1_uc003lwi.2_Missense_Mutation_p.P254S	151	GBM-14-3476-TP	p.P254S	G	GAGTACAATGGTGAGCTGGTG	NM_001099414	NP_001092884	156476070	Q96D42	HAVR1_HUMAN	0	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		5	945	-	A	A	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Missense_Mutation	249			Extracellular (Potential).			
HBE1	0	broad.mit.edu	GRCh37	11	5290821	5290821	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01	TCGA-19-1790-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000292896.2:c.178A>G	p.Lys60Glu	p.K60E	ENST00000292896	NM_005330.3	60	Aag/Gag	0			1			C	K/E	uc001mal.1	protein_coding		CCDS7756.1			178/444										0	c.(178-180)AAG>GAG			PROSITE_profiles:PS01033,hmmpanther:PTHR11442:SF7,hmmpanther:PTHR11442,Pfam_domain:PF00042,Gene3D:1.10.490.10,Superfamily_domains:SSF46458,Prints_domain:PR00814	epsilon globin				ENSP00000292896		3-Feb									COSM2156073	3-Feb	.		ENST00000292896	Transcript			blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	ENSG00000213931	g.chr11:5290821T>C	4830			MODERATE		3.11	medium	getma.org/?cm=msa&ty=f&p=HBE_HUMAN&rb=8&re=112&var=K60E	getma.org/pdb.php?prot=HBE_HUMAN&from=8&to=112&var=K60E	getma.org/?cm=var&var=hg19,11,5290821,T,C&fts=all	K60E	--	--	1																																		HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Missense_Mutation_p.K60E	1			benign(0.384)	p.K60E	NM_005330	NP_005321		deleterious(0.01)	1	HBE_HUMAN	HBE1	HGNC	P02100	HBE_HUMAN		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	D9YZU7_HUMAN,A8MUF7_HUMAN		2	431	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	UPI00000004B9	60					SNV	HBE1,missense_variant,p.Lys60Glu,ENST00000380237,;HBE1,missense_variant,p.Lys60Glu,ENST00000292896,NM_005330.3;HBE1,missense_variant,p.Lys60Glu,ENST00000396895,;HBG2,intron_variant,,ENST00000380259,;HBG2,intron_variant,,ENST00000380252,;	uc001mal.1	c.178A>G	446/827	3	3			c.178A>G						11	SNP	c.(178-180)AAG>GAG	53	53				0	Broad	epsilon globin			5290821		0.507	ENSG00000213931	6854	g.chr11:5290821T>C	blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity							97.346668	KEEP	16	19	-1	28	38	16	19	-1	99.416553	28	38	0.34375	1	0	0	0	0	1	0	0	0	--	--		0	C			HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Missense_Mutation_p.K60E	160	GBM-19-1790-TP	p.K60E	T	GCCTTGACCTTGGGGTTGCCC	NM_005330	NP_005321	5290821	P02100	HBE_HUMAN	0		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	431	-	C	C		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	Missense_Mutation	60						
HBG2	0	broad.mit.edu	GRCh37	11	5275527	5275527	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-12-0618-01	TCGA-12-0618-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336906.4:c.310T>C	p.Phe104Leu	p.F104L	ENST00000336906	NM_000184.2	104	Ttc/Ctc	0			1			G	F/L	uc001mai.1	protein_coding		CCDS7755.1			310/444									skin(1)	1	c.(310-312)TTC>CTC			PROSITE_profiles:PS01033,hmmpanther:PTHR11442:SF34,hmmpanther:PTHR11442,Gene3D:1.10.490.10,Pfam_domain:PF00042,Superfamily_domains:SSF46458	A-gamma globin				ENSP00000338082		3-Feb									COSM3397764	3-Feb	.		ENST00000336906	Transcript	1		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	ENSG00000196565	g.chr11:5275527A>G	4832			MODERATE		4.12	high	getma.org/?cm=msa&ty=f&p=HBG2_HUMAN&rb=8&re=112&var=F104L	getma.org/pdb.php?prot=HBG2_HUMAN&from=8&to=112&var=F104L	getma.org/?cm=var&var=hg19,11,5275527,A,G&fts=all	F104L	--	--	1																																		HBG2_uc001mak.1_RNA|HBG2_uc001maj.1_Missense_Mutation_p.F104L	1			probably_damaging(0.973)	p.F104L	NM_000559	NP_000550		deleterious(0.01)	1	HBG2_HUMAN	HBG2	HGNC	P69892	HBG2_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Q9UNL6_HUMAN,Q9UJ01_HUMAN,Q14476_HUMAN,Q14474_HUMAN,Q14402_HUMAN,D9YZU9_HUMAN,A1EGU3_HUMAN		2	747	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	UPI00000012DA	104					SNV	HBG2,missense_variant,p.Phe104Leu,ENST00000380259,;HBG2,missense_variant,p.Phe94Leu,ENST00000380252,;HBG2,missense_variant,p.Phe104Leu,ENST00000336906,NM_000184.2;HBG1,upstream_gene_variant,,ENST00000330597,NM_000559.2;HBG2,3_prime_UTR_variant,,ENST00000444587,;	uc001mai.1	c.310T>C	393/602	4	4			c.310T>C						11	SNP	c.(310-312)TTC>CTC	30	30			skin(1)	1	Broad	A-gamma globin			5275527		0.498	ENSG00000196565	6857	g.chr11:5275527A>G	blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity							-27.213206	KEEP	5	3	-1	135	131	5	3	-1	15.255872	135	131	0.03352	1	0	0	0	0	1	0	0	0	--	--		0	G			HBG2_uc001mak.1_RNA|HBG2_uc001maj.1_Missense_Mutation_p.F104L	119	GBM-12-0618-TP	p.F104L	A	CTCACCTTGAAGTTCTCAGGA	NM_000559	NP_000550	5275527	P69892	HBG2_HUMAN	0		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	747	-	G	G		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	Missense_Mutation	104						
HBS1L	0	broad.mit.edu	GRCh37	6	135318720	135318720	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367837.5:c.614C>G	p.Ser205Cys	p.S205C	ENST00000367837	NM_006620.3	205	tCt/tGt	0			1			C	S/C	uc003qez.2	protein_coding	YES	CCDS5173.1			614/2055									skin(2)	2	c.(613-615)TCT>TGT			hmmpanther:PTHR23115:SF38,hmmpanther:PTHR23115	Hsp70 subfamily B suppressor 1-like protein				ENSP00000356811		18-Jun									COSM3410604	18-Jun	.		ENST00000367837	Transcript			signal transduction		GTP binding|GTPase activity|translation elongation factor activity	ENSG00000112339	g.chr6:135318720G>C	4834			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=HBS1L_HUMAN&rb=139&re=257&var=S205C	NA	getma.org/?cm=var&var=hg19,6,135318720,G,C&fts=all	S205C	--	--	1																																		HBS1L_uc003qey.2_Missense_Mutation_p.S41C|HBS1L_uc011ecy.1_Intron|HBS1L_uc011ecz.1_Missense_Mutation_p.S41C|HBS1L_uc011eda.1_Missense_Mutation_p.S163C	1	1		benign(0.214)	p.S205C	NM_006620	NP_006611		deleterious(0.04)	1	HBS1L_HUMAN	HBS1L	HGNC	Q9Y450	HBS1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)	E9PS53_HUMAN,E9PHZ9_HUMAN,D9YZV0_HUMAN,B7Z524_HUMAN,B7Z1K2_HUMAN		6	821	-	Colorectal(23;0.221)		UPI00000372EA	205					SNV	HBS1L,missense_variant,p.Ser205Cys,ENST00000367837,NM_006620.3,NM_001145158.1;HBS1L,missense_variant,p.Ser163Cys,ENST00000367826,;HBS1L,missense_variant,p.Ser140Cys,ENST00000415177,;HBS1L,missense_variant,p.Ser41Cys,ENST00000527578,;HBS1L,missense_variant,p.Ser41Cys,ENST00000367824,;HBS1L,missense_variant,p.Ser75Cys,ENST00000533274,;HBS1L,missense_variant,p.Ser41Cys,ENST00000529641,;HBS1L,missense_variant,p.Ser41Cys,ENST00000527507,;HBS1L,intron_variant,,ENST00000445176,;HBS1L,intron_variant,,ENST00000526100,;	uc003qez.2	c.614C>G	821/7163	4	4			c.614C>G						6	SNP	c.(613-615)TCT>TGT	41	41			skin(2)	2	Broad	Hsp70 subfamily B suppressor 1-like protein			135318720		0.443	ENSG00000112339	6861	g.chr6:135318720G>C	signal transduction		GTP binding|GTPase activity|translation elongation factor activity							162.17325	KEEP	33	21	-1	79	78	33	21	-1	172.498297	79	78	0.262376	1	0	0	0	0	1	0	0	0	--	--		0	C			HBS1L_uc003qey.2_Missense_Mutation_p.S41C|HBS1L_uc011ecy.1_Intron|HBS1L_uc011ecz.1_Missense_Mutation_p.S41C|HBS1L_uc011eda.1_Missense_Mutation_p.S163C	232	GBM-32-1982-TP	p.S205C	G	AACATCGGAAGAAGCAATGGC	NM_006620	NP_006611	135318720	Q9Y450	HBS1L_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)	6	821	-	C	C	Colorectal(23;0.221)		Missense_Mutation	205						
HCAR1	27198	broad.mit.edu	GRCh37	12	123214503	123214503	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0210-01	TCGA-06-0210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000432564.1:c.384C>T	p.Ser128=	p.S128=	ENST00000432564	NM_032554.3	128	tcC/tcT	0			1			A	S	uc001ucz.2	protein_coding	YES	CCDS9236.1			384/1041										0	c.(382-384)TCC>TCT			PROSITE_profiles:PS50262,hmmpanther:PTHR24231:SF29,hmmpanther:PTHR24231,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	G protein-coupled receptor 81				ENSP00000389255		2-Jan									COSM2150716	2-Jan	.		ENST00000432564	Transcript			response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000196917	g.chr12:123214503G>A	4532			LOW								--	--	1																																		GPR81_uc001ucw.1_RNA	1	1			p.S128S	NM_032554	NP_115943			1	HCAR1_HUMAN	HCAR1	HGNC	Q9BXC0	HCAR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197)			1	627	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		UPI000003BC7A	128			Cytoplasmic (Potential).		SNV	HCAR1,synonymous_variant,p.=,ENST00000432564,NM_032554.3;HCAR1,synonymous_variant,p.=,ENST00000356987,;HCAR1,synonymous_variant,p.=,ENST00000436083,;RP11-324E6.9,upstream_gene_variant,,ENST00000602891,;	uc001ucz.2	c.384C>T	627/3612	1	1			c.384C>T						12	SNP	c.(382-384)TCC>TCT	62	62				0	Broad	G protein-coupled receptor 81			123214503		0.602	ENSG00000196917	6590	g.chr12:123214503G>A	response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity							103.315254	KEEP	35	28	-1	111	101	35	28	-1	117.729547	111	101	0.218274	1	0	0	0	0	0	0	1	0	--	--		0	A			GPR81_uc001ucw.1_RNA	47	GBM-06-0210-TP	p.S128S	G	CCACCCGGGTGGAGATAGTGT	NM_032554	NP_115943	123214503	Q9BXC0	HCAR1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197)	1	627	-	A	A	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		Silent	128			Cytoplasmic (Potential).			
HCAR1	27198	broad.mit.edu	GRCh37	12	123214178	123214178	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01	TCGA-06-2564-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000432564.1:c.709G>A	p.Val237Met	p.V237M	ENST00000432564	NM_032554.3	237	Gtg/Atg	0	T:0.0002		1			T	V/M	uc001ucz.2	protein_coding	YES	CCDS9236.1			709/1041										0	c.(709-711)GTG>ATG			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24231:SF29,hmmpanther:PTHR24231,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	G protein-coupled receptor 81			T:0.0002	ENSP00000389255		2-Jan	6.59E-05	0.000192				8.99E-05			rs371072988,COSM1208744	2-Jan	.		ENST00000432564	Transcript			response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000196917	g.chr12:123214178C>T	4532			MODERATE		2.34	medium	getma.org/?cm=msa&ty=f&p=HCAR1_HUMAN&rb=201&re=346&var=V237M	getma.org/pdb.php?prot=HCAR1_HUMAN&from=201&to=346&var=V237M	getma.org/?cm=var&var=hg19,12,123214178,C,T&fts=all	V237M	--	--	1																																		GPR81_uc001ucw.1_RNA	0,1	1		probably_damaging(0.951)	p.V237M	NM_032554	NP_115943		deleterious(0.03)	0,1	HCAR1_HUMAN	HCAR1	HGNC	Q9BXC0	HCAR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197)			1	952	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		UPI000003BC7A	237			Helical; Name=6; (Potential).		SNV	HCAR1,missense_variant,p.Val237Met,ENST00000432564,NM_032554.3;HCAR1,missense_variant,p.Val237Met,ENST00000356987,;HCAR1,missense_variant,p.Val237Met,ENST00000436083,;RP11-324E6.9,upstream_gene_variant,,ENST00000602891,;	uc001ucz.2	c.709G>A	952/3612	1	1			c.709G>A						12	SNP	c.(709-711)GTG>ATG	5	5				0	Broad	G protein-coupled receptor 81			123214178		0.582	ENSG00000196917	6590	g.chr12:123214178C>T	response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity							142.685271	KEEP	23	28	-1	28	27	23	28	-1	142.706047	28	27	0.516129	1	0	0	0	0	1	0	0	0	--	--		0	T			GPR81_uc001ucw.1_RNA	87	GBM-06-2564-TP	p.V237M	C	CTAGCAGACACGCTGGGCAGG	NM_032554	NP_115943	123214178	Q9BXC0	HCAR1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197)	1	952	-	T	T	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		Missense_Mutation	237			Helical; Name=6; (Potential).			
HCAR2	0	broad.mit.edu	GRCh37	12	123187080	123187080	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01	TCGA-27-2527-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328880.5:c.751C>T	p.Arg251Trp	p.R251W	ENST00000328880	NM_177551.3	251	Cgg/Tgg	0			1			A	R/W	uc001ucx.1	protein_coding	YES	CCDS9235.1			751/1092										0	c.(751-753)CGG>TGG			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF0,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01157,Prints_domain:PR00237	G protein-coupled receptor 109A	Mepenzolate(DB04843)|Niacin(DB00627)			ENSP00000375066		1-Jan	3.29E-05	9.61E-05	8.65E-05		0.000151			6.06E-05	rs776840309,COSM3398469	1-Jan	.		ENST00000328880	Transcript			negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled	ENSG00000182782	g.chr12:123187080G>A	24827			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=HCAR2_HUMAN&rb=201&re=363&var=R251W	getma.org/pdb.php?prot=HCAR2_HUMAN&from=201&to=363&var=R251W	getma.org/?cm=var&var=hg19,12,123187080,G,A&fts=all	R251W	--	--	1																																		GPR81_uc001ucw.1_Intron	0,1	1		probably_damaging(0.995)	p.R251W	NM_177551	NP_808219		deleterious(0.03)	0,1	HCAR2_HUMAN	HCAR2	HGNC	Q8TDS4	HCAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)			1	825	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		UPI000003BCD5	251			Extracellular (Potential).		SNV	HCAR2,missense_variant,p.Arg251Trp,ENST00000328880,NM_177551.3;HCAR1,intron_variant,,ENST00000356987,;RP11-324E6.6,intron_variant,,ENST00000543611,;	uc001ucx.1	c.751C>T	811/2051	1	1			c.751C>T						12	SNP	c.(751-753)CGG>TGG	52	52				0	Broad	G protein-coupled receptor 109A		Mepenzolate(DB04843)|Niacin(DB00627)	123187080		0.542	ENSG00000182782	6505	g.chr12:123187080G>A	negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled							30.512648	KEEP	8	11	-1	52	69	8	11	-1	43.965473	52	69	0.149123	1	0	0	0	0	1	0	0	0	--	--		0	A			GPR81_uc001ucw.1_Intron	204	GBM-27-2527-TP	p.R251W	G	ATGCGGATCCGCACAACCACG	NM_177551	NP_808219	123187080	Q8TDS4	HCAR2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	1	825	-	A	A	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		Missense_Mutation	251			Extracellular (Potential).			
HCAR2	338442		GRCh37	12	123187006	123187006	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000328880.5:c.825G>A	p.Ala275=	p.A275=	ENST00000328880	NM_177551.3	275	gcG/gcA	0																																																																																																																																																																																																																																												
HCAR3	0	broad.mit.edu	GRCh37	12	123200903	123200903	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6701-01	TCGA-06-6701-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000528880.2:c.382C>T	p.Arg128Trp	p.R128W	ENST00000528880	NM_006018.2	128	Cgg/Tgg	0	A:0		1			A	R/W	uc001ucy.3	protein_coding	YES	CCDS53842.1			382/1164									ovary(1)|skin(1)	2	c.(382-384)CGG>TGG			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,Prints_domain:PR01157,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF0,Superfamily_domains:SSF81321	G protein-coupled receptor 109B	Mepenzolate(DB04843)|Niacin(DB00627)		A:0.0002	ENSP00000436714		1-Jan	0.00028					0.000494		6.06E-05	rs371876470,COSM2225241,COSM2225240,COSM2225239	1-Jan	common_variant		ENST00000528880	Transcript				integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	ENSG00000255398	g.chr12:123200903G>A	16824			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=HCAR3_HUMAN&rb=1&re=200&var=R128W	getma.org/pdb.php?prot=HCAR3_HUMAN&from=1&to=200&var=R128W	getma.org/?cm=var&var=hg19,12,123200903,G,A&fts=all	R128W	--	--	1																																		GPR81_uc001ucw.1_Intron	0,1,1,1	1		probably_damaging(1)	p.R128W	NM_006018	NP_006009		deleterious(0)	0,1,1,1	HCAR3_HUMAN	HCAR3	HGNC	P49019	HCAR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)			1	537	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		UPI00001AFD35	128			Cytoplasmic (Potential).		SNV	HCAR3,missense_variant,p.Arg128Trp,ENST00000528880,NM_006018.2;HCAR1,intron_variant,,ENST00000356987,;RP11-324E6.6,downstream_gene_variant,,ENST00000543611,;RP11-324E6.6,downstream_gene_variant,,ENST00000545293,;	uc001ucy.3	c.382C>T	537/2137	2	2			c.382C>T						12	SNP	c.(382-384)CGG>TGG	41	41			ovary(1)|skin(1)	2	Broad	G protein-coupled receptor 109B		Mepenzolate(DB04843)|Niacin(DB00627)	123200903		0.562	ENSG00000255398	6506	g.chr12:123200903G>A		integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled							-12.057289	KEEP	1	3	-1	50	53	1	3	-1	7.629992	50	53	0.044944	1	0	0	0	0	1	0	0	0	--	--		0	A			GPR81_uc001ucw.1_Intron	115	GBM-06-6701-TP	p.R128W	G	TGGACCACCCGGAAATACCTG	NM_006018	NP_006009	123200903	P49019	HCAR3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	1	537	-	A	A	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		Missense_Mutation	128			Cytoplasmic (Potential).			
HCAR3	0	broad.mit.edu	GRCh37	12	123200222	123200222	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6285-01	TCGA-76-6285-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000528880.2:c.1063C>T	p.Pro355Ser	p.P355S	ENST00000528880	NM_006018.2	355	Ccc/Tcc	0			1			A	P/S	uc001ucy.3	protein_coding	YES	CCDS53842.1			1063/1164									ovary(1)|skin(1)	2	c.(1063-1065)CCC>TCC			hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF0	G protein-coupled receptor 109B	Mepenzolate(DB04843)|Niacin(DB00627)			ENSP00000436714		1-Jan	8.24E-06					1.50E-05			rs745907085,COSM3398471,COSM3398472,COSM3398470	1-Jan	.		ENST00000528880	Transcript				integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	ENSG00000255398	g.chr12:123200222G>A	16824			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=HCAR3_HUMAN&rb=201&re=387&var=P355S	NA	getma.org/?cm=var&var=hg19,12,123200222,G,A&fts=all	P355S	--	--	1																																		GPR81_uc001ucw.1_Intron	0,1,1,1	1		benign(0.041)	p.P355S	NM_006018	NP_006009		tolerated_low_confidence(0.05)	0,1,1,1	HCAR3_HUMAN	HCAR3	HGNC	P49019	HCAR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)			1	1218	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		UPI00001AFD35	355			Cytoplasmic (Potential).		SNV	HCAR3,missense_variant,p.Pro355Ser,ENST00000528880,NM_006018.2;HCAR1,intron_variant,,ENST00000356987,;RP11-324E6.6,non_coding_transcript_exon_variant,,ENST00000543611,;RP11-324E6.6,non_coding_transcript_exon_variant,,ENST00000545293,;	uc001ucy.3	c.1063C>T	1218/2137	2	2			c.1063C>T						12	SNP	c.(1063-1065)CCC>TCC	17	17			ovary(1)|skin(1)	2	Broad	G protein-coupled receptor 109B		Mepenzolate(DB04843)|Niacin(DB00627)	123200222		0.537	ENSG00000255398	6506	g.chr12:123200222G>A		integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled							180.829156	KEEP	26	37	-1	51	45	26	37	-1	181.609187	51	45	0.419118	1	0	0	0	0	1	0	0	0	--	--		0	A			GPR81_uc001ucw.1_Intron	280	GBM-76-6285-TP	p.P355S	G	AGATAAGAGGGGCTCCATGGC	NM_006018	NP_006009	123200222	P49019	HCAR3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	1	1218	-	A	A	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		Missense_Mutation	355			Cytoplasmic (Potential).			
HCAR3	8843		GRCh37	12	123200283	123200283	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000528880.2:c.1002C>T	p.Asp334=	p.D334=	ENST00000528880	NM_006018.2	334	gaC/gaT	0																																																																																																																																																																																																																																												
HCFC1	0	broad.mit.edu	GRCh37	X	153236126	153236126	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-4931-01	TCGA-76-4931-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310441.7:c.166G>C	p.Val56Leu	p.V56L	ENST00000310441	NM_005334.2	56	Gtg/Ctg	0			1			G	V/L	uc004fjp.2	protein_coding	YES	CCDS44020.1			166/6108									ovary(2)	2	c.(166-168)GTG>CTG			Superfamily_domains:0052715,Gene3D:1k3iA02,Pfam_domain:PF01344,hmmpanther:PTHR23244,hmmpanther:PTHR23244:SF266	host cell factor 1				ENSP00000309555		26-Jan									COSM3406131	26-Jan	.		ENST00000310441	Transcript	1		cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	ENSG00000172534	g.chrX:153236126C>G	4839			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=HCFC1_HUMAN&rb=32&re=71&var=V56L	NA	getma.org/?cm=var&var=hg19,X,153236126,C,G&fts=all	V56L	--	--	1																																		TMEM187_uc004fjq.2_5'Flank	1	1		probably_damaging(0.97)	p.V56L	NM_005334	NP_005325		deleterious(0.04)	1	HCFC1_HUMAN	HCFC1	HGNC	P51610	HCFC1_HUMAN			Q05C05_HUMAN		1	694	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		UPI0000142F1F	56			Kelch 1.		SNV	HCFC1,missense_variant,p.Val56Leu,ENST00000310441,NM_005334.2;HCFC1,missense_variant,p.Val56Leu,ENST00000369984,;HCFC1,missense_variant,p.Val56Leu,ENST00000354233,;TMEM187,upstream_gene_variant,,ENST00000369982,NM_003492.2;TMEM187,upstream_gene_variant,,ENST00000425274,;HCFC1-AS1,downstream_gene_variant,,ENST00000438219,;	uc004fjp.2	c.166G>C	1133/8869	4	4			c.166G>C						23	SNP	c.(166-168)GTG>CTG	29	29			ovary(2)	2	Broad	host cell factor 1			153236126		0.532	ENSG00000172534	6864	g.chrX:153236126C>G	cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity							80.881237	KEEP	20	12	-1	27	26	20	12	-1	82.407178	27	26	0.342857	1	0	0	0	0	1	0	0	0	--	--		0	G			TMEM187_uc004fjq.2_5'Flank	270	GBM-76-4931-TP	p.V56L	C	AGTTCGTCCACTATTCCCTCG	NM_005334	NP_005325	153236126	P51610	HCFC1_HUMAN	0			1	694	-	G	G	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	56			Kelch 1.			
HCFC2	0	broad.mit.edu	GRCh37	12	104461817	104461817	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-32-2634-01	TCGA-32-2634-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000229330.4:c.405T>C	p.Tyr135=	p.Y135=	ENST00000229330	NM_013320.2	135	taT/taC	0			1			C	Y	uc001tkj.3	protein_coding	YES	CCDS9097.1			405/2379									ovary(2)|central_nervous_system(1)	3	c.(403-405)TAT>TAC			Superfamily_domains:0047741,Superfamily_domains:0052715,Gene3D:1k3iA02,hmmpanther:PTHR23244,hmmpanther:PTHR23244:SF288	host cell factor C2				ENSP00000229330		15-Mar									COSM3398268	15-Mar	.		ENST00000229330	Transcript			regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	ENSG00000111727	g.chr12:104461817T>C	24972			LOW								--	--	1																																		HCFC2_uc009zul.2_RNA	1	1			p.Y135Y	NM_013320	NP_037452			1	HCFC2_HUMAN	HCFC2	HGNC	Q9Y5Z7	HCFC2_HUMAN			F8VU09_HUMAN		3	508	+			UPI000006CF31	135					SNV	HCFC2,synonymous_variant,p.=,ENST00000229330,NM_013320.2;HCFC2,synonymous_variant,p.=,ENST00000550444,;GLT8D2,upstream_gene_variant,,ENST00000548660,;HCFC2,synonymous_variant,p.=,ENST00000544223,;	uc001tkj.3	c.405T>C	509/4071	4	4			c.405T>C						12	SNP	c.(403-405)TAT>TAC	34	34			ovary(2)|central_nervous_system(1)	3	Broad	host cell factor C2			104461817		0.418	ENSG00000111727	6866	g.chr12:104461817T>C	regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	Esophageal Squamous(184;1814 2036 4771 6974 15702)			Esophageal Squamous(184;1814 2036 4771 6974 15702)			494.144363	KEEP	100	70	-1	115	109	100	70	-1	495.278323	115	109	0.44086	1	0	0	0	0	0	0	1	0	--	--		0	C			HCFC2_uc009zul.2_RNA	241	GBM-32-2634-TP	p.Y135Y	T	TCTCTTTATATGGTAACAAAT	NM_013320	NP_037452	104461817	Q9Y5Z7	HCFC2_HUMAN	0			3	508	+	C	C			Silent	135						
HCK	3055	broad.mit.edu	GRCh37	20	30689234	30689234	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0646-01	TCGA-06-0646-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375852.2:c.1493C>T	p.Pro498Leu	p.P498L	ENST00000375852		498	cCg/cTg	0			1			T	P/L	uc002wxh.2	protein_coding		CCDS54454.1			1433/1521								p.P477L(1)	lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9	c.(1492-1494)CCG>CTG			Gene3D:1.10.510.10,Pfam_domain:PF07714,Prints_domain:PR00109,PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF181,SMART_domains:SM00219,Superfamily_domains:SSF56112	hemopoietic cell kinase isoform p61HCK				ENSP00000444986		14/14	8.24E-06					1.52E-05			COSM42855,COSM1411040	14/14	.		ENST00000534862	Transcript			interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	ENSG00000101336	g.chr20:30689234C>T	4840			MODERATE		3.38	medium	getma.org/?cm=msa&ty=f&p=HCK_HUMAN&rb=262&re=511&var=P498L	getma.org/pdb.php?prot=HCK_HUMAN&from=262&to=511&var=P498L	getma.org/?cm=var&var=hg19,20,30689234,C,T&fts=all	P498L	--	--	1																																		HCK_uc010gdy.2_Missense_Mutation_p.P477L|HCK_uc002wxi.2_Missense_Mutation_p.P476L	1,1			probably_damaging(0.994)	p.P498L	NM_002110	NP_002101		deleterious(0)	1,1		HCK	HGNC	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		A8K4G3_HUMAN		13	1664	+			UPI00015DA782	498			Protein kinase.		SNV	HCK,missense_variant,p.Pro478Leu,ENST00000534862,NM_001172132.1;HCK,missense_variant,p.Pro477Leu,ENST00000538448,NM_001172133.1;HCK,missense_variant,p.Pro477Leu,ENST00000520553,NM_001172129.1,NM_001172130.1,NM_002110.3,NM_001172131.1;HCK,missense_variant,p.Pro498Leu,ENST00000375852,;HCK,missense_variant,p.Pro497Leu,ENST00000375862,;HCK,missense_variant,p.Pro476Leu,ENST00000518730,;HCK,3_prime_UTR_variant,,ENST00000262651,;HCK,3_prime_UTR_variant,,ENST00000486475,;	uc002wxh.2	c.1493C>T	1796/2217	2	2			c.1493C>T						20	SNP	c.(1492-1494)CCG>CTG	46	46		p.P477L(1)	lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9	Broad	hemopoietic cell kinase isoform p61HCK			30689234		0.572	ENSG00000101336	6867	g.chr20:30689234C>T	interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			262			262	102.097987	KEEP	15	19	-1	20	24	15	19	-1	102.290217	20	24	0.444444	1	0	0	0	0	1	0	0	0	--	--		0	T			HCK_uc010gdy.2_Missense_Mutation_p.P477L|HCK_uc002wxi.2_Missense_Mutation_p.P476L	60	GBM-06-0646-TP	p.P498L	C	AAAAACCGTCCGGAGGAGCGG	NM_002110	NP_002101	30689234	P08631	HCK_HUMAN	0	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		13	1664	+	T	T			Missense_Mutation	498			Protein kinase.			
HCK	3055	broad.mit.edu	GRCh37	20	30674471	30674471	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01	TCGA-06-5414-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375852.2:c.876G>A	p.Met292Ile	p.M292I	ENST00000375852		292	atG/atA	0			1			A	M/I	uc002wxh.2	protein_coding		CCDS54454.1			816/1521									lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9	c.(874-876)ATG>ATA			Gene3D:3.30.200.20,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF181,SMART_domains:SM00219,Superfamily_domains:SSF56112	hemopoietic cell kinase isoform p61HCK				ENSP00000444986		14-Oct									COSM3405010,COSM3405009	14-Oct	.		ENST00000534862	Transcript			interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	ENSG00000101336	g.chr20:30674471G>A	4840			MODERATE		0.495	neutral	getma.org/?cm=msa&ty=f&p=HCK_HUMAN&rb=262&re=511&var=M292I	getma.org/pdb.php?prot=HCK_HUMAN&from=262&to=511&var=M292I	getma.org/?cm=var&var=hg19,20,30674471,G,A&fts=all	M292I	--	--	1																																		HCK_uc010gdy.2_Missense_Mutation_p.M271I|HCK_uc002wxi.2_Missense_Mutation_p.M270I	1,1			possibly_damaging(0.768)	p.M292I	NM_002110	NP_002101		deleterious(0.01)	1,1		HCK	HGNC	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		A8K4G3_HUMAN		9	1047	+			UPI00015DA782	292			Protein kinase.		SNV	HCK,missense_variant,p.Met272Ile,ENST00000534862,NM_001172132.1;HCK,missense_variant,p.Met271Ile,ENST00000538448,NM_001172133.1;HCK,missense_variant,p.Met271Ile,ENST00000520553,NM_001172129.1,NM_001172130.1,NM_002110.3,NM_001172131.1;HCK,missense_variant,p.Met292Ile,ENST00000375852,;HCK,missense_variant,p.Met291Ile,ENST00000375862,;HCK,missense_variant,p.Met270Ile,ENST00000518730,;HCK,3_prime_UTR_variant,,ENST00000262651,;HCK,3_prime_UTR_variant,,ENST00000486475,;	uc002wxh.2	c.876G>A	1179/2217	1	1			c.876G>A						20	SNP	c.(874-876)ATG>ATA	64	64			lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9	Broad	hemopoietic cell kinase isoform p61HCK			30674471		0.577	ENSG00000101336	6867	g.chr20:30674471G>A	interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			262			262	30.646597	KEEP	3	12	-1	19	22	3	12	-1	33.429758	19	22	0.254902	1	0	0	0	0	1	0	0	0	--	--		0	A			HCK_uc010gdy.2_Missense_Mutation_p.M271I|HCK_uc002wxi.2_Missense_Mutation_p.M270I	97	GBM-06-5414-TP	p.M292I	G	TGAAGACGATGAAGCCAGGGA	NM_002110	NP_002101	30674471	P08631	HCK_HUMAN	0	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		9	1047	+	A	A			Missense_Mutation	292			Protein kinase.			
HCK	3055	broad.mit.edu	GRCh37	20	30661155	30661155	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-5856-01	TCGA-06-5856-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375852.2:c.217A>T	p.Ile73Phe	p.I73F	ENST00000375852		73	Atc/Ttc	0			1			T	I/F	uc002wxh.2	protein_coding		CCDS54454.1			157/1521									lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9	c.(217-219)ATC>TTC			hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF181	hemopoietic cell kinase isoform p61HCK				ENSP00000444986		14-Apr									COSM3405008,COSM3405007	14-Apr	.		ENST00000534862	Transcript			interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	ENSG00000101336	g.chr20:30661155A>T	4840			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=HCK_HUMAN&rb=1&re=83&var=I73F	getma.org/pdb.php?prot=HCK_HUMAN&from=1&to=83&var=I73F	getma.org/?cm=var&var=hg19,20,30661155,A,T&fts=all	I73F	--	--	1																																		HCK_uc010gdy.2_Missense_Mutation_p.I52F|HCK_uc002wxi.2_Missense_Mutation_p.I52F	1,1			benign(0.001)	p.I73F	NM_002110	NP_002101		tolerated(0.76)	1,1		HCK	HGNC	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		A8K4G3_HUMAN		3	388	+			UPI00015DA782	73					SNV	HCK,missense_variant,p.Ile53Phe,ENST00000534862,NM_001172132.1;HCK,missense_variant,p.Ile52Phe,ENST00000538448,NM_001172133.1;HCK,missense_variant,p.Ile52Phe,ENST00000520553,NM_001172129.1,NM_001172130.1,NM_002110.3,NM_001172131.1;HCK,missense_variant,p.Ile73Phe,ENST00000375852,;HCK,missense_variant,p.Ile73Phe,ENST00000375862,;HCK,missense_variant,p.Ile52Phe,ENST00000518730,;HCK,3_prime_UTR_variant,,ENST00000262651,;HCK,3_prime_UTR_variant,,ENST00000486475,;HCK,downstream_gene_variant,,ENST00000470092,;	uc002wxh.2	c.217A>T	520/2217	2	2			c.217A>T						20	SNP	c.(217-219)ATC>TTC	26	26			lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9	Broad	hemopoietic cell kinase isoform p61HCK			30661155		0.468	ENSG00000101336	6867	g.chr20:30661155A>T	interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			262			262	43.977136	KEEP	9	9	-1	23	24	9	9	-1	46.599094	23	24	0.275862	1	0	0	0	0	1	0	0	0	--	--		0	T			HCK_uc010gdy.2_Missense_Mutation_p.I52F|HCK_uc002wxi.2_Missense_Mutation_p.I52F	101	GBM-06-5856-TP	p.I73F	A	CACACCAGGAATCAGGGAGGG	NM_002110	NP_002101	30661155	P08631	HCK_HUMAN	0	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	388	+	T	T			Missense_Mutation	73						
HCLS1	0	broad.mit.edu	GRCh37	3	121356079	121356079	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs142478875	by1000genomes	TCGA-14-1829-01	TCGA-14-1829-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314583.3:c.479G>A	p.Arg160Gln	p.R160Q	ENST00000314583	NM_005335.4	160	cGg/cAg	0	T:0.0002	T:0	1	T:0		T	R/Q	uc003eeh.3	protein_coding	YES	CCDS3003.1			479/1461										0	c.(478-480)CGG>CAG			Pfam_domain:PF02218,PROSITE_profiles:PS51090,hmmpanther:PTHR10829,hmmpanther:PTHR10829:SF5	hematopoietic cell-specific Lyn substrate 1		T:0	T:0	ENSP00000320176	T:0.001	14-Jul	0.000346	0.000192				0.000599			rs142478875,COSM3408165,COSM3408166	14-Jul	common_variant		ENST00000314583	Transcript		T:0.0002	erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000180353	g.chr3:121356079C>T	4844			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=HCLS1_HUMAN&rb=156&re=192&var=R160Q	NA	getma.org/?cm=var&var=hg19,3,121356079,C,T&fts=all	R160Q	--	--	1																																		HCLS1_uc011bjj.1_Intron|HCLS1_uc011bjk.1_RNA	0,1,1	1		unknown(0)	p.R160Q	NM_005335	NP_005326	T:0	deleterious(0.03)	0,1,1	HCLS1_HUMAN	HCLS1	HGNC	P14317	HCLS1_HUMAN		GBM - Glioblastoma multiforme(114;0.0912)			7	604	-			UPI000013F884	160			Cortactin 3.		SNV	HCLS1,missense_variant,p.Arg160Gln,ENST00000314583,NM_005335.4;HCLS1,intron_variant,,ENST00000428394,;HCLS1,non_coding_transcript_exon_variant,,ENST00000473883,;HCLS1,missense_variant,p.Gly142Ser,ENST00000495491,;HCLS1,3_prime_UTR_variant,,ENST00000464274,;	uc003eeh.3	c.479G>A	571/2000	2	2			c.479G>A						3	SNP	c.(478-480)CGG>CAG	30	30				0	Broad	hematopoietic cell-specific Lyn substrate 1			121356079		0.557	ENSG00000180353	6868	g.chr3:121356079C>T	erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity							188.238884	KEEP	30	37	-1	42	48	30	37	-1	188.660076	42	48	0.439394	1	0	0	0	0	1	0	0	0	--	--		0	T			HCLS1_uc011bjj.1_Intron|HCLS1_uc011bjk.1_RNA	149	GBM-14-1829-TP	p.R160Q	C	CACCCCGTACCGGCCACCAAA	NM_005335	NP_005326	121356079	P14317	HCLS1_HUMAN	0		GBM - Glioblastoma multiforme(114;0.0912)	7	604	-	T	T			Missense_Mutation	160			Cortactin 3.			
HCLS1	0	broad.mit.edu	GRCh37	3	121351248	121351248	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01	TCGA-41-2573-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314583.3:c.1171G>A	p.Asp391Asn	p.D391N	ENST00000314583	NM_005335.4	391	Gat/Aat	0			1			T	D/N	uc003eeh.3	protein_coding	YES	CCDS3003.1			1171/1461										0	c.(1171-1173)GAT>AAT			hmmpanther:PTHR10829,hmmpanther:PTHR10829:SF5,Low_complexity_(Seg):seg	hematopoietic cell-specific Lyn substrate 1				ENSP00000320176		14-Dec	8.24E-06					1.50E-05			rs766873481,COSM3408163,COSM3408164	14-Dec	.		ENST00000314583	Transcript			erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000180353	g.chr3:121351248C>T	4844			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=HCLS1_HUMAN&rb=218&re=417&var=D391N	NA	getma.org/?cm=var&var=hg19,3,121351248,C,T&fts=all	D391N	--	--	1																																		HCLS1_uc011bjj.1_Missense_Mutation_p.D354N|HCLS1_uc011bjk.1_RNA	0,1,1	1		possibly_damaging(0.539)	p.D391N	NM_005335	NP_005326		tolerated(0.39)	0,1,1	HCLS1_HUMAN	HCLS1	HGNC	P14317	HCLS1_HUMAN		GBM - Glioblastoma multiforme(114;0.0912)			12	1296	-			UPI000013F884	391					SNV	HCLS1,missense_variant,p.Asp391Asn,ENST00000314583,NM_005335.4;HCLS1,missense_variant,p.Asp354Asn,ENST00000428394,;FBXO40,downstream_gene_variant,,ENST00000338040,NM_016298.3;HCLS1,non_coding_transcript_exon_variant,,ENST00000473883,;HCLS1,downstream_gene_variant,,ENST00000495491,;HCLS1,downstream_gene_variant,,ENST00000464274,;	uc003eeh.3	c.1171G>A	1263/2000	2	2			c.1171G>A						3	SNP	c.(1171-1173)GAT>AAT	20	20				0	Broad	hematopoietic cell-specific Lyn substrate 1			121351248		0.413	ENSG00000180353	6868	g.chr3:121351248C>T	erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity							727.962227	KEEP	136	126	-1	61	50	136	126	-1	738.378082	61	50	0.693291	1	0	0	0	0	1	0	0	0	--	--		0	T			HCLS1_uc011bjj.1_Missense_Mutation_p.D354N|HCLS1_uc011bjk.1_RNA	252	GBM-41-2573-TP	p.D391N	C	TCTGGTTCATCCTCCTGCTCA	NM_005335	NP_005326	121351248	P14317	HCLS1_HUMAN	0		GBM - Glioblastoma multiforme(114;0.0912)	12	1296	-	T	T			Missense_Mutation	391						
HCN1	348980	broad.mit.edu	GRCh37	5	45462085	45462085	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0122-01	TCGA-06-0122-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303230.4:c.874G>C	p.Ala292Pro	p.A292P	ENST00000303230	NM_021072.3	292	Gcc/Ccc	0			1			G	A/P	uc003jok.2	protein_coding	YES	CCDS3952.1			874/2673									ovary(1)	1	c.(874-876)GCC>CCC			Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF373,Superfamily_domains:SSF81324	hyperpolarization activated cyclic				ENSP00000307342		8-Mar									COSM3410295	8-Mar	.		ENST00000303230	Transcript	1			integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	ENSG00000164588	g.chr5:45462085C>G	4845			MODERATE		2.5	medium	getma.org/?cm=msa&ty=f&p=HCN1_HUMAN&rb=177&re=393&var=A292P	NA	getma.org/?cm=var&var=hg19,5,45462085,C,G&fts=all	A292P	--	--	1																																			1	1		probably_damaging(0.996)	p.A292P	NM_021072	NP_066550		deleterious(0.01)	1	HCN1_HUMAN	HCN1	HGNC	O60741	HCN1_HUMAN					3	899	-			UPI00001AED69	292			Cytoplasmic (Potential).		SNV	HCN1,missense_variant,p.Ala292Pro,ENST00000303230,NM_021072.3;	uc003jok.2	c.874G>C	932/5405	4	4			c.874G>C						5	SNP	c.(874-876)GCC>CCC	30	30			ovary(1)	1	Broad	hyperpolarization activated cyclic			45462085		0.378	ENSG00000164588	6869	g.chr5:45462085C>G		integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity							12.429543	KEEP	5	2	-1	16	13	5	2	-1	15.514092	16	13	0.1875	1	0	0	0	0	1	0	0	0	--	--		0	G				10	GBM-06-0122-TP	p.A292P	C	ACTGCACTGGCGAGATCATAT	NM_021072	NP_066550	45462085	O60741	HCN1_HUMAN	0			3	899	-	G	G			Missense_Mutation	292			Cytoplasmic (Potential).			
HCN1	348980	broad.mit.edu	GRCh37	5	45267351	45267351	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-06-0211-01	TCGA-06-0211-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303230.4:c.1623T>A	p.Ile541=	p.I541=	ENST00000303230	NM_021072.3	541	atT/atA	0			1			T	I	uc003jok.2	protein_coding	YES	CCDS3952.1			1623/2673									ovary(1)	1	c.(1621-1623)ATT>ATA			Gene3D:2.60.120.10,Pfam_domain:PF00027,PROSITE_profiles:PS50042,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF373,SMART_domains:SM00100,Superfamily_domains:SSF51206	hyperpolarization activated cyclic				ENSP00000307342		8-Jul									COSM2150747	8-Jul	.		ENST00000303230	Transcript	1			integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	ENSG00000164588	g.chr5:45267351A>T	4845			LOW								--	--	1																																			1	1			p.I541I	NM_021072	NP_066550			1	HCN1_HUMAN	HCN1	HGNC	O60741	HCN1_HUMAN					7	1648	-			UPI00001AED69	541			cAMP.|Cytoplasmic (Potential).		SNV	HCN1,synonymous_variant,p.=,ENST00000303230,NM_021072.3;	uc003jok.2	c.1623T>A	1681/5405	2	2			c.1623T>A						5	SNP	c.(1621-1623)ATT>ATA	45	45			ovary(1)	1	Broad	hyperpolarization activated cyclic			45267351		0.403	ENSG00000164588	6869	g.chr5:45267351A>T		integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity							147.425205	KEEP	28	34	-1	41	44	28	34	-1	148.123245	41	44	0.420635	1	0	0	0	0	0	0	1	0	--	--		0	T				48	GBM-06-0211-TP	p.I541I	A	TCAGCAGGCAAATCTCTATAA	NM_021072	NP_066550	45267351	O60741	HCN1_HUMAN	0			7	1648	-	T	T			Silent	541			cAMP.|Cytoplasmic (Potential).			
HCN1	348980	broad.mit.edu	GRCh37	5	45262309	45262309	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0747-01	TCGA-06-0747-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303230.4:c.2387A>T	p.Glu796Val	p.E796V	ENST00000303230	NM_021072.3	796	gAg/gTg	0			1			A	E/V	uc003jok.2	protein_coding	YES	CCDS3952.1			2387/2673									ovary(1)	1	c.(2386-2388)GAG>GTG			hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF373	hyperpolarization activated cyclic				ENSP00000307342		8-Aug									COSM2151796	8-Aug	.		ENST00000303230	Transcript	1			integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	ENSG00000164588	g.chr5:45262309T>A	4845			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=HCN1_HUMAN&rb=779&re=890&var=E796V	NA	getma.org/?cm=var&var=hg19,5,45262309,T,A&fts=all	E796V	--	--	1																																			1	1		benign(0.348)	p.E796V	NM_021072	NP_066550		deleterious_low_confidence(0.02)	1	HCN1_HUMAN	HCN1	HGNC	O60741	HCN1_HUMAN					8	2412	-			UPI00001AED69	796			Cytoplasmic (Potential).		SNV	HCN1,missense_variant,p.Glu796Val,ENST00000303230,NM_021072.3;	uc003jok.2	c.2387A>T	2445/5405	2	2			c.2387A>T						5	SNP	c.(2386-2388)GAG>GTG	21	21			ovary(1)	1	Broad	hyperpolarization activated cyclic			45262309		0.632	ENSG00000164588	6869	g.chr5:45262309T>A		integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity							114.908271	KEEP	29	17	-1	51	15	29	17	-1	115.720904	51	15	0.402062	1	0	0	0	0	1	0	0	0	--	--		0	A				68	GBM-06-0747-TP	p.E796V	T	AGTGGACACCTCATGGGGCAG	NM_021072	NP_066550	45262309	O60741	HCN1_HUMAN	0			8	2412	-	A	A			Missense_Mutation	796			Cytoplasmic (Potential).			
HCN1	0	broad.mit.edu	GRCh37	5	45262443	45262443	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-1597-01	TCGA-12-1597-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303230.4:c.2253G>A	p.Pro751=	p.P751=	ENST00000303230	NM_021072.3	751	ccG/ccA	0			1			T	P	uc003jok.2	protein_coding	YES	CCDS3952.1			2253/2673									ovary(1)	1	c.(2251-2253)CCG>CCA			hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF373,Low_complexity_(Seg):seg	hyperpolarization activated cyclic				ENSP00000307342		8-Aug									COSM1543896	8-Aug	.		ENST00000303230	Transcript	1			integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	ENSG00000164588	g.chr5:45262443C>T	4845			LOW								--	--	1																																			1	1			p.P751P	NM_021072	NP_066550			1	HCN1_HUMAN	HCN1	HGNC	O60741	HCN1_HUMAN					8	2278	-			UPI00001AED69	751			Gln-rich.|Cytoplasmic (Potential).		SNV	HCN1,synonymous_variant,p.=,ENST00000303230,NM_021072.3;	uc003jok.2	c.2253G>A	2311/5405	1	1			c.2253G>A						5	SNP	c.(2251-2253)CCG>CCA	6	6			ovary(1)	1	Broad	hyperpolarization activated cyclic			45262443		0.428	ENSG00000164588	6869	g.chr5:45262443C>T		integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity							73.501714	KEEP	23	3	-1	16	14	23	3	-1	73.505997	16	14	0.489796	1	0	0	0	0	0	0	1	0	--	--		0	T				124	GBM-12-1597-TP	p.P751P	C	GCTGCGGGGACGgctgctgtg	NM_021072	NP_066550	45262443	O60741	HCN1_HUMAN	0			8	2278	-	T	T			Silent	751			Gln-rich.|Cytoplasmic (Potential).			
HCN1	0	broad.mit.edu	GRCh37	5	45262901	45262901	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-1034-01	TCGA-14-1034-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303230.4:c.1795T>C	p.Ser599Pro	p.S599P	ENST00000303230	NM_021072.3	599	Tca/Cca	0			1			G	S/P	uc003jok.2	protein_coding	YES	CCDS3952.1			1795/2673									ovary(1)	1	c.(1795-1797)TCA>CCA			hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF373	hyperpolarization activated cyclic				ENSP00000307342		8-Aug									COSM2155254	8-Aug	.		ENST00000303230	Transcript	1			integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	ENSG00000164588	g.chr5:45262901A>G	4845			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=HCN1_HUMAN&rb=579&re=778&var=S599P	getma.org/pdb.php?prot=HCN1_HUMAN&from=579&to=778&var=S599P	getma.org/?cm=var&var=hg19,5,45262901,A,G&fts=all	S599P	--	--	1																																			1	1		possibly_damaging(0.499)	p.S599P	NM_021072	NP_066550		deleterious(0)	1	HCN1_HUMAN	HCN1	HGNC	O60741	HCN1_HUMAN					8	1820	-			UPI00001AED69	599			Cytoplasmic (Potential).		SNV	HCN1,missense_variant,p.Ser599Pro,ENST00000303230,NM_021072.3;	uc003jok.2	c.1795T>C	1853/5405	4	4			c.1795T>C						5	SNP	c.(1795-1797)TCA>CCA	20	20			ovary(1)	1	Broad	hyperpolarization activated cyclic			45262901		0.413	ENSG00000164588	6869	g.chr5:45262901A>G		integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity							103.963219	KEEP	23	13	-1	42	38	23	13	-1	107.675523	42	38	0.301887	1	0	0	0	0	1	0	0	0	--	--		0	G				142	GBM-14-1034-TP	p.S599P	A	AGAAGAATTGAATTTTTCTTT	NM_021072	NP_066550	45262901	O60741	HCN1_HUMAN	0			8	1820	-	G	G			Missense_Mutation	599			Cytoplasmic (Potential).			
HCN1	0	broad.mit.edu	GRCh37	5	45262136	45262136	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-26-5135-01	TCGA-26-5135-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303230.4:c.2560C>T	p.Arg854Ter	p.R854*	ENST00000303230	NM_021072.3	854	Cga/Tga	0		A:0.0008	1	A:0		A	R/*	uc003jok.2	protein_coding	YES	CCDS3952.1			2560/2673									ovary(1)	1	c.(2560-2562)CGA>TGA			hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF373,Low_complexity_(Seg):seg	hyperpolarization activated cyclic		A:0		ENSP00000307342	A:0	8-Aug									rs534013981,COSM2157080	8-Aug	.		ENST00000303230	Transcript	1	A:0.0002		integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	ENSG00000164588	g.chr5:45262136G>A	4845			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,5,45262136,G,A&fts=all	R854*	--	--	1																																			0,1	1			p.R854*	NM_021072	NP_066550	A:0		0,1	HCN1_HUMAN	HCN1	HGNC	O60741	HCN1_HUMAN					8	2585	-			UPI00001AED69	854			Cytoplasmic (Potential).		SNV	HCN1,stop_gained,p.Arg854Ter,ENST00000303230,NM_021072.3;	uc003jok.2	c.2560C>T	2618/5405	5	2			c.2560C>T						5	SNP	c.(2560-2562)CGA>TGA	26	26			ovary(1)	1	Broad	hyperpolarization activated cyclic			45262136		0.632	ENSG00000164588	6869	g.chr5:45262136G>A		integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity							233.291035	KEEP	44	41	-1	73	45	44	41	-1	234.351051	73	45	0.419355	1	0	0	0	0	0	1	0	0	--	--		0	A				184	GBM-26-5135-TP	p.R854*	G	GGGACTCCTCGGTTCGGGGGG	NM_021072	NP_066550	45262136	O60741	HCN1_HUMAN	0			8	2585	-	A	A			Nonsense_Mutation	854			Cytoplasmic (Potential).			
HCN1	0	broad.mit.edu	GRCh37	5	45353296	45353296	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01	TCGA-26-5135-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303230.4:c.1283G>A	p.Arg428His	p.R428H	ENST00000303230	NM_021072.3	428	cGt/cAt	0			1			T	R/H	uc003jok.2	protein_coding	YES	CCDS3952.1			1283/2673									ovary(1)	1	c.(1282-1284)CGT>CAT			Gene3D:3bpzA01,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF373,Superfamily_domains:SSF51206	hyperpolarization activated cyclic				ENSP00000307342		8-May									COSM240080	8-May	.		ENST00000303230	Transcript	1			integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	ENSG00000164588	g.chr5:45353296C>T	4845			MODERATE		2.83	medium	getma.org/?cm=msa&ty=f&p=HCN1_HUMAN&rb=394&re=492&var=R428H	getma.org/pdb.php?prot=HCN1_HUMAN&from=394&to=492&var=R428H	getma.org/?cm=var&var=hg19,5,45353296,C,T&fts=all	R428H	--	--	1																																			1	1		possibly_damaging(0.637)	p.R428H	NM_021072	NP_066550		deleterious(0)	1	HCN1_HUMAN	HCN1	HGNC	O60741	HCN1_HUMAN					5	1308	-			UPI00001AED69	428			Cytoplasmic (Potential).		SNV	HCN1,missense_variant,p.Arg428His,ENST00000303230,NM_021072.3;	uc003jok.2	c.1283G>A	1341/5405	2	2			c.1283G>A						5	SNP	c.(1282-1284)CGT>CAT	48	48			ovary(1)	1	Broad	hyperpolarization activated cyclic			45353296		0.338	ENSG00000164588	6869	g.chr5:45353296C>T		integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity							221.653487	KEEP	39	54	-1	81	82	39	54	-1	226.054969	81	82	0.351111	1	0	0	0	0	1	0	0	0	--	--		0	T				184	GBM-26-5135-TP	p.R428H	C	TATCTTCTGACGCATATCAGC	NM_021072	NP_066550	45353296	O60741	HCN1_HUMAN	0			5	1308	-	T	T			Missense_Mutation	428			Cytoplasmic (Potential).			
HCN1	0	broad.mit.edu	GRCh37	5	45695952	45695952	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5211-01	TCGA-28-5211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303230.4:c.244G>A	p.Glu82Lys	p.E82K	ENST00000303230	NM_021072.3	82	Gaa/Aaa	0			1			T	E/K	uc003jok.2	protein_coding	YES	CCDS3952.1			244/2673									ovary(1)	1	c.(244-246)GAA>AAA			hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF373,Low_complexity_(Seg):seg	hyperpolarization activated cyclic				ENSP00000307342		8-Jan									COSM3410297	8-Jan	.		ENST00000303230	Transcript	1			integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	ENSG00000164588	g.chr5:45695952C>T	4845			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=HCN1_HUMAN&rb=1&re=96&var=E82K	NA	getma.org/?cm=var&var=hg19,5,45695952,C,T&fts=all	E82K	--	--	1																																			1	1		benign(0.027)	p.E82K	NM_021072	NP_066550		tolerated_low_confidence(0.29)	1	HCN1_HUMAN	HCN1	HGNC	O60741	HCN1_HUMAN					1	269	-			UPI00001AED69	82			Cytoplasmic (Potential).		SNV	HCN1,missense_variant,p.Glu82Lys,ENST00000303230,NM_021072.3;	uc003jok.2	c.244G>A	302/5405	1	1			c.244G>A						5	SNP	c.(244-246)GAA>AAA	2	2			ovary(1)	1	Broad	hyperpolarization activated cyclic			45695952		0.478	ENSG00000164588	6869	g.chr5:45695952C>T		integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity							7.334919	KEEP	3	7	-1	15	10	3	7	-1	9.452571	15	10	0.214286	1	0	0	0	0	1	0	0	0	--	--		0	T				219	GBM-28-5211-TP	p.E82K	C	TCGGCGTCTTCGAAGCCCCCC	NM_021072	NP_066550	45695952	O60741	HCN1_HUMAN	0			1	269	-	T	T			Missense_Mutation	82			Cytoplasmic (Potential).			
HCN1	0	broad.mit.edu	GRCh37	5	45262526	45262526	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs141383188	byFrequency	TCGA-28-6450-01	TCGA-28-6450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303230.4:c.2170G>A	p.Ala724Thr	p.A724T	ENST00000303230	NM_021072.3	724	Gcc/Acc	0	T:0.0014	T:0.0008	1	T:0		T	A/T	uc003jok.2	protein_coding	YES	CCDS3952.1			2170/2673									ovary(1)	1	c.(2170-2172)GCC>ACC			hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF373	hyperpolarization activated cyclic		T:0	T:0	ENSP00000307342	T:0	8-Aug	5.77E-05	0.000689							rs141383188,COSM1543895	8-Aug	common_variant		ENST00000303230	Transcript	1	T:0.0002		integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	ENSG00000164588	g.chr5:45262526C>T	4845			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=HCN1_HUMAN&rb=579&re=778&var=A724T	NA	getma.org/?cm=var&var=hg19,5,45262526,C,T&fts=all	A724T	--	--	1																																			0,1	1		probably_damaging(0.978)	p.A724T	NM_021072	NP_066550	T:0	deleterious_low_confidence(0.04)	0,1	HCN1_HUMAN	HCN1	HGNC	O60741	HCN1_HUMAN					8	2195	-			UPI00001AED69	724			Cytoplasmic (Potential).		SNV	HCN1,missense_variant,p.Ala724Thr,ENST00000303230,NM_021072.3;	uc003jok.2	c.2170G>A	2228/5405	1	1			c.2170G>A						5	SNP	c.(2170-2172)GCC>ACC	3	3			ovary(1)	1	Broad	hyperpolarization activated cyclic			45262526		0.443	ENSG00000164588	6869	g.chr5:45262526C>T		integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity							11.82821	KEEP	5	1	-1	9	7	5	1	-1	12.552328	9	7	0.3	1	0	0	0	0	1	0	0	0	--	--		0	T				227	GBM-28-6450-TP	p.A724T	C	AGCTGGGAGGCGGTGGGGGAG	NM_021072	NP_066550	45262526	O60741	HCN1_HUMAN	0			8	2195	-	T	T			Missense_Mutation	724			Cytoplasmic (Potential).			
HCN1	0	broad.mit.edu	GRCh37	5	45262592	45262592	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01	TCGA-76-4935-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303230.4:c.2104G>A	p.Ala702Thr	p.A702T	ENST00000303230	NM_021072.3	702	Gcg/Acg	0			1			T	A/T	uc003jok.2	protein_coding	YES	CCDS3952.1			2104/2673									ovary(1)	1	c.(2104-2106)GCG>ACG			hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF373	hyperpolarization activated cyclic				ENSP00000307342		8-Aug									COSM1311167	8-Aug	.		ENST00000303230	Transcript	1			integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	ENSG00000164588	g.chr5:45262592C>T	4845			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=HCN1_HUMAN&rb=579&re=778&var=A702T	NA	getma.org/?cm=var&var=hg19,5,45262592,C,T&fts=all	A702T	--	--	1																																			1	1		benign(0.041)	p.A702T	NM_021072	NP_066550		deleterious_low_confidence(0.04)	1	HCN1_HUMAN	HCN1	HGNC	O60741	HCN1_HUMAN					8	2129	-			UPI00001AED69	702			Cytoplasmic (Potential).		SNV	HCN1,missense_variant,p.Ala702Thr,ENST00000303230,NM_021072.3;	uc003jok.2	c.2104G>A	2162/5405	2	2			c.2104G>A						5	SNP	c.(2104-2106)GCG>ACG	29	29			ovary(1)	1	Broad	hyperpolarization activated cyclic			45262592		0.592	ENSG00000164588	6869	g.chr5:45262592C>T		integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity							94.993484	KEEP	17	17	-1	20	24	17	17	-1	95.044709	20	24	0.470588	1	0	0	0	0	1	0	0	0	--	--		0	T				273	GBM-76-4935-TP	p.A702T	C	CTGCAGACCGCGGTGGTGTAG	NM_021072	NP_066550	45262592	O60741	HCN1_HUMAN	0			8	2129	-	T	T			Missense_Mutation	702			Cytoplasmic (Potential).			
HCN1	348980		GRCh37	5	45695840	45695840	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000303230.4:c.356C>T	p.Ala119Val	p.A119V	ENST00000303230	NM_021072.3	119	gCg/gTg	0																																																																																																																																																																																																																																												
HCN1	348980		GRCh37	5	45262329	45262329	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000303230.4:c.2367G>A	p.Ser789=	p.S789=	ENST00000303230	NM_021072.3	789	tcG/tcA	0																																																																																																																																																																																																																																												
HCN2	0	broad.mit.edu	GRCh37	19	605149	605149	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01	TCGA-16-0846-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251287.2:c.1145G>A	p.Gly382Asp	p.G382D	ENST00000251287	NM_001194.3	382	gGc/gAc	0			1			A	G/D	uc002lpe.2	protein_coding	YES	CCDS12035.1			1145/2670										0	c.(1144-1146)GGC>GAC			Gene3D:1.10.287.70,Pfam_domain:PF00520,Prints_domain:PR01463,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF372,Superfamily_domains:SSF81324	hyperpolarization activated cyclic				ENSP00000251287		8-Mar									COSM3404736	8-Mar	.		ENST00000251287	Transcript			cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	ENSG00000099822	g.chr19:605149G>A	4846			MODERATE		3.3	medium	getma.org/?cm=msa&ty=f&p=HCN2_HUMAN&rb=246&re=462&var=G382D	NA	getma.org/?cm=var&var=hg19,19,605149,G,A&fts=all	G382D	--	--	1																																			1	1		probably_damaging(0.995)	p.G382D	NM_001194	NP_001185		deleterious(0)	1	HCN2_HUMAN	HCN2	HGNC	Q9UL51	HCN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Q09ND3_HUMAN		3	1198	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	UPI000013CCF6	382			Helical; Name=Segment S5; (Potential).		SNV	HCN2,missense_variant,p.Gly382Asp,ENST00000251287,NM_001194.3;	uc002lpe.2	c.1145G>A	1198/3408	2	2			c.1145G>A						19	SNP	c.(1144-1146)GGC>GAC	24	24				0	Broad	hyperpolarization activated cyclic			605149		0.617	ENSG00000099822	6870	g.chr19:605149G>A	cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	Melanoma(145;1175 2427 8056 36306)			Melanoma(145;1175 2427 8056 36306)			-18.266957	KEEP	3	2	-1	98	44	3	2	-1	7.638764	98	44	0.036036	1	0	0	0	0	1	0	0	0	--	--		0	A				155	GBM-16-0846-TP	p.G382D	G	CACTGGGACGGCTGCCTGCAG	NM_001194	NP_001185	605149	Q9UL51	HCN2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1198	+	A	A		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	Missense_Mutation	382			Helical; Name=Segment S5; (Potential).			
HCN3	0	broad.mit.edu	GRCh37	1	155254428	155254428	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-76-6193-01	TCGA-76-6193-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368358.3:c.969C>G	p.Pro323=	p.P323=	ENST00000368358	NM_020897.2	323	ccC/ccG	0			1			G	P	uc001fjz.1	protein_coding	YES	CCDS1108.1			969/2325									ovary(1)|breast(1)	2	c.(967-969)CCC>CCG			hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF374,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324	hyperpolarization activated cyclic				ENSP00000357342		8-Apr									COSM3399797	8-Apr	.		ENST00000368358	Transcript				integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	ENSG00000143630	g.chr1:155254428C>G	19183			LOW								--	--	1																																		RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Intron	1	1			p.P323P	NM_020897	NP_065948			1	HCN3_HUMAN	HCN3	HGNC	Q9P1Z3	HCN3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)				4	977	+	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		UPI00000559A6	323			Extracellular (Potential).		SNV	HCN3,synonymous_variant,p.=,ENST00000368358,NM_020897.2;HCN3,non_coding_transcript_exon_variant,,ENST00000496230,;HCN3,non_coding_transcript_exon_variant,,ENST00000467204,;HCN3,upstream_gene_variant,,ENST00000492035,;	uc001fjz.1	c.969C>G	977/3718	4	4			c.969C>G						1	SNP	c.(967-969)CCC>CCG	32	32			ovary(1)|breast(1)	2	Broad	hyperpolarization activated cyclic			155254428		0.597	ENSG00000143630	6871	g.chr1:155254428C>G		integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity							31.280589	KEEP	5	7	-1	12	21	5	7	-1	33.329268	12	21	0.272727	1	0	0	0	0	0	0	1	0	--	--		0	G			RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Intron	276	GBM-76-6193-TP	p.P323P	C	TAGGCATGCCCGACGTCTGGC	NM_020897	NP_065948	155254428	Q9P1Z3	HCN3_HUMAN	0	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		4	977	+	G	G	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Silent	323			Extracellular (Potential).			
HCN4	10021	broad.mit.edu	GRCh37	15	73614906	73614906	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-02-0033-01	TCGA-02-0033-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261917.3:c.3528G>A	p.Gly1176=	p.G1176=	ENST00000261917	NM_005477.2	1176	ggG/ggA	0			1			T	G	uc002avp.2	protein_coding	YES	CCDS10248.1			3528/3612									ovary(5)|liver(1)	6	c.(3526-3528)GGG>GGA				hyperpolarization activated cyclic				ENSP00000261917		8-Aug									COSM3401907	8-Aug	.		ENST00000261917	Transcript	1		blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	ENSG00000138622	g.chr15:73614906C>T	16882			LOW								--	--	1																																			1	1			p.G1176G	NM_005477	NP_005468			1	HCN4_HUMAN	HCN4	HGNC	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)			8	4522	-			UPI000003FFB5	1176			Cytoplasmic (Potential).		SNV	HCN4,synonymous_variant,p.=,ENST00000261917,NM_005477.2;	uc002avp.2	c.3528G>A	4522/7228	2	2			c.3528G>A						15	SNP	c.(3526-3528)GGG>GGA	33	33			ovary(5)|liver(1)	6	Broad	hyperpolarization activated cyclic			73614906		0.602	ENSG00000138622	6872	g.chr15:73614906C>T	blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity							11.262876	KEEP	2	4	-1	10	15	2	4	-1	13.35405	10	15	0.2	1	0	0	0	0	0	0	1	0	--	--		0	T				2	GBM-02-0033-TP	p.G1176G	C	GAGGGGGCCCCCCAGAAGAGG	NM_005477	NP_005468	73614906	Q9Y3Q4	HCN4_HUMAN	0		COAD - Colon adenocarcinoma(1;0.142)	8	4522	-	T	T			Silent	1176			Cytoplasmic (Potential).			
HCRTR1	0	broad.mit.edu	GRCh37	1	32086485	32086485	+	synonymous_variant	Silent	SNP	C	C	T	rs140406432		TCGA-28-1753-01	TCGA-28-1753-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373706.5:c.420C>T	p.Ile140=	p.I140=	ENST00000373706		140	atC/atT	0	T:0		1			T	I	uc009vtx.2	protein_coding		CCDS344.1			420/1278									ovary(1)	1	c.(418-420)ATC>ATT			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24241:SF30,hmmpanther:PTHR24241,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	orexin receptor 1			T:0.0002	ENSP00000362810		7-Mar	4.12E-05					6.00E-05		6.06E-05	rs140406432,COSM3400668,COSM3400669	7-Mar	.		ENST00000373706	Transcript			feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane		ENSG00000121764	g.chr1:32086485C>T	4848			LOW								--	--	1																																		HCRTR1_uc001btb.2_5'UTR|HCRTR1_uc001btc.3_Silent_p.I54I|HCRTR1_uc001btd.2_Silent_p.I140I|HCRTR1_uc010ogl.1_Silent_p.I140I	0,1,1				p.I140I	NM_001525	NP_001516			0,1,1	OX1R_HUMAN	HCRTR1	HGNC	O43613	OX1R_HUMAN		STAD - Stomach adenocarcinoma(196;0.053)			5	805	+		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)	UPI0000038135	140			Helical; Name=3; (Potential).		SNV	HCRTR1,synonymous_variant,p.=,ENST00000403528,NM_001525.2;HCRTR1,synonymous_variant,p.=,ENST00000373706,;HCRTR1,synonymous_variant,p.=,ENST00000373705,;HCRTR1,non_coding_transcript_exon_variant,,ENST00000468521,;HCRTR1,non_coding_transcript_exon_variant,,ENST00000485464,;	uc009vtx.2	c.420C>T	573/1642	2	2			c.420C>T						1	SNP	c.(418-420)ATC>ATT	33	33			ovary(1)	1	Broad	orexin receptor 1			32086485		0.612	ENSG00000121764	6874	g.chr1:32086485C>T	feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane								44.908358	KEEP	14	16	-1	67	87	14	16	-1	65.589669	67	87	0.148571	1	0	0	0	0	0	0	1	0	--	--		0	T			HCRTR1_uc001btb.2_5'UTR|HCRTR1_uc001btc.3_Silent_p.I54I|HCRTR1_uc001btd.2_Silent_p.I140I|HCRTR1_uc010ogl.1_Silent_p.I140I	207	GBM-28-1753-TP	p.I140I	C	TCAGCTTCATCGCCCTGGACC	NM_001525	NP_001516	32086485	O43613	OX1R_HUMAN	0		STAD - Stomach adenocarcinoma(196;0.053)	5	805	+	T	T		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)	Silent	140			Helical; Name=3; (Potential).			
HCRTR2	3062	broad.mit.edu	GRCh37	6	55142306	55142306	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0878-01	TCGA-06-0878-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370862.3:c.891A>G	p.Arg297=	p.R297=	ENST00000370862	NM_001526.3	297	cgA/cgG	0			1			G	R	uc003pcl.2	protein_coding	YES	CCDS4956.1			891/1335									ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6	c.(889-891)CGA>CGG			PROSITE_profiles:PS50262,hmmpanther:PTHR24241:SF56,hmmpanther:PTHR24241,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR01064	orexin receptor 2				ENSP00000359899		7-May									COSM2152251	7-May	.		ENST00000370862	Transcript			feeding behavior	integral to plasma membrane	neuropeptide receptor activity	ENSG00000137252	g.chr6:55142306A>G	4849			LOW								--	--	1																																		HCRTR2_uc010jzv.2_RNA	1	1			p.R297R	NM_001526	NP_001517			1	OX2R_HUMAN	HCRTR2	HGNC	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		S4X0W3_HUMAN,A6N9G8_HUMAN		5	1206	+	Lung NSC(77;0.107)|Renal(3;0.122)		UPI000013D07A	297			Cytoplasmic (Potential).		SNV	HCRTR2,synonymous_variant,p.=,ENST00000370862,NM_001526.3;	uc003pcl.2	c.891A>G	1227/1837	3	3			c.891A>G						6	SNP	c.(889-891)CGA>CGG	59	59			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6	Broad	orexin receptor 2			55142306		0.493	ENSG00000137252	6875	g.chr6:55142306A>G	feeding behavior	integral to plasma membrane	neuropeptide receptor activity							77.080019	KEEP	13	11	-1	25	28	13	11	-1	78.48998	25	28	0.347826	1	0	0	0	0	0	0	1	0	--	--		0	G			HCRTR2_uc010jzv.2_RNA	74	GBM-06-0878-TP	p.R297R	A	AGCAGATCCGAGCCAGAAGGA	NM_001526	NP_001517	55142306	O43614	OX2R_HUMAN	0	LUSC - Lung squamous cell carcinoma(124;0.23)		5	1206	+	G	G	Lung NSC(77;0.107)|Renal(3;0.122)		Silent	297			Cytoplasmic (Potential).			
HCRTR2	3062	broad.mit.edu	GRCh37	6	55113582	55113582	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-2558-01	TCGA-06-2558-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370862.3:c.369A>G	p.Gly123=	p.G123=	ENST00000370862	NM_001526.3	123	ggA/ggG	0			1			G	G	uc003pcl.2	protein_coding	YES	CCDS4956.1			369/1335									ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6	c.(367-369)GGA>GGG			PROSITE_profiles:PS50262,hmmpanther:PTHR24241:SF56,hmmpanther:PTHR24241,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01064	orexin receptor 2				ENSP00000359899		7-Feb									COSM3411207	7-Feb	.		ENST00000370862	Transcript			feeding behavior	integral to plasma membrane	neuropeptide receptor activity	ENSG00000137252	g.chr6:55113582A>G	4849			LOW								--	--	1																																		HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzw.1_Silent_p.G58G	1	1			p.G123G	NM_001526	NP_001517			1	OX2R_HUMAN	HCRTR2	HGNC	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		S4X0W3_HUMAN,A6N9G8_HUMAN		2	684	+	Lung NSC(77;0.107)|Renal(3;0.122)		UPI000013D07A	123			Extracellular (Potential).		SNV	HCRTR2,synonymous_variant,p.=,ENST00000370862,NM_001526.3;	uc003pcl.2	c.369A>G	705/1837	3	3			c.369A>G						6	SNP	c.(367-369)GGA>GGG	50	50			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6	Broad	orexin receptor 2			55113582		0.428	ENSG00000137252	6875	g.chr6:55113582A>G	feeding behavior	integral to plasma membrane	neuropeptide receptor activity							-62.208055	KEEP	8	12	-1	234	262	8	12	-1	40.108674	234	262	0.038288	1	0	0	0	0	0	0	1	0	--	--		0	G			HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzw.1_Silent_p.G58G	82	GBM-06-2558-TP	p.G123G	A	GGTTTTTTGGACAGTCCCTTT	NM_001526	NP_001517	55113582	O43614	OX2R_HUMAN	0	LUSC - Lung squamous cell carcinoma(124;0.23)		2	684	+	G	G	Lung NSC(77;0.107)|Renal(3;0.122)		Silent	123			Extracellular (Potential).			
HDAC2	3066	broad.mit.edu	GRCh37	6	114266601	114266601	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01	TCGA-06-0195-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000519065.1:c.1016G>A	p.Gly339Glu	p.G339E	ENST00000519065		339	gGa/gAa	0			1			T	G/E	uc003pwd.1	protein_coding	YES	CCDS43493.2			1016/1467									skin(2)|ovary(1)|central_nervous_system(1)	4	c.(1297-1299)GGA>GAA			Gene3D:3.40.800.20,PIRSF_domain:PIRSF037913,hmmpanther:PTHR10625,hmmpanther:PTHR10625:SF60,Superfamily_domains:SSF52768	histone deacetylase 2	Vorinostat(DB02546)			ENSP00000430432		14-Oct									COSM3410541,COSM3410540	14-Oct	.		ENST00000519065	Transcript			blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	ENSG00000196591	g.chr6:114266601C>T	4853			MODERATE		3.085	medium	getma.org/?cm=msa&ty=f&p=HDAC2_HUMAN&rb=322&re=488&var=G339E	getma.org/pdb.php?prot=HDAC2_HUMAN&from=322&to=488&var=G339E	getma.org/?cm=var&var=hg19,6,114266601,C,T&fts=all	G339E	--	--	1																																		HDAC2_uc003pwc.1_Missense_Mutation_p.G309E|HDAC2_uc003pwe.1_Missense_Mutation_p.G309E	1,1	1		benign(0.13)	p.G433E	NM_001527	NP_001518		deleterious(0.01)	1,1	HDAC2_HUMAN	HDAC2	HGNC	Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	E5RK19_HUMAN,E5RJ04_HUMAN,E5RHE7_HUMAN,E5RH52_HUMAN,E5RGV4_HUMAN,E5RG37_HUMAN,E5RFI6_HUMAN,B3KRS5_HUMAN		10	1298	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	UPI000020E11B	339					SNV	HDAC2,missense_variant,p.Gly339Glu,ENST00000519065,;HDAC2,missense_variant,p.Gly433Glu,ENST00000398283,NM_001527.3;HDAC2,missense_variant,p.Gly309Glu,ENST00000368632,;HDAC2,missense_variant,p.Gly309Glu,ENST00000519108,;HDAC2,non_coding_transcript_exon_variant,,ENST00000523334,;HDAC2,non_coding_transcript_exon_variant,,ENST00000520746,;	uc003pwd.1	c.1298G>A	1393/9874	1	1			c.1298G>A						6	SNP	c.(1297-1299)GGA>GAA	5	5			skin(2)|ovary(1)|central_nervous_system(1)	4	Broad	histone deacetylase 2		Vorinostat(DB02546)	114266601		0.299	ENSG00000196591	6880	g.chr6:114266601C>T	blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			302			302	297.572107	KEEP	52	57	-1	71	71	52	57	-1	298.074849	71	71	0.447115	1	0	0	0	0	1	0	0	0	--	--		0	T			HDAC2_uc003pwc.1_Missense_Mutation_p.G309E|HDAC2_uc003pwe.1_Missense_Mutation_p.G309E	45	GBM-06-0195-TP	p.G433E	C	GAAGTCTGGTCCAAAATACTC	NM_001527	NP_001518	114266601	Q92769	HDAC2_HUMAN	0		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	10	1298	-	T	T		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	Missense_Mutation	339						
HDAC2	0	broad.mit.edu	GRCh37	6	114264560	114264563	+	frameshift_variant	Frame_Shift_Del	DEL	CTTT	CTTT	-			TCGA-26-5132-01	TCGA-26-5132-01	CTTT	CTTT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000519065.1:c.1330_1333delAAAG	p.Lys444LeufsTer61	p.K444Lfs*61	ENST00000519065		444	AAAGct/ct	0			1			-	KA/X	uc003pwd.1	protein_coding	YES	CCDS43493.2			1330-1333/1467									skin(2)|ovary(1)|central_nervous_system(1)	4	c.(1612-1617)AAAGCTfs			Coiled-coils_(Ncoils):Coil,PIRSF_domain:PIRSF037913,hmmpanther:PTHR10625,hmmpanther:PTHR10625:SF60	histone deacetylase 2	Vorinostat(DB02546)			ENSP00000430432		14-Dec										14-Dec	.		ENST00000519065	Transcript			blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	ENSG00000196591	g.chr6:114264560_114264563delCTTT	4853			HIGH								--	--	1																																		HDAC2_uc003pwc.1_Frame_Shift_Del_p.K414fs|HDAC2_uc003pwe.1_Frame_Shift_Del_p.K414fs		1			p.K538fs	NM_001527	NP_001518				HDAC2_HUMAN	HDAC2	HGNC	Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	E5RK19_HUMAN,E5RJ04_HUMAN,E5RHE7_HUMAN,E5RH52_HUMAN,E5RGV4_HUMAN,E5RG37_HUMAN,E5RFI6_HUMAN,B3KRS5_HUMAN		12	1612_1615	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	UPI000020E11B	444_445					deletion	HDAC2,frameshift_variant,p.Lys444LeufsTer61,ENST00000519065,;HDAC2,frameshift_variant,p.Lys538LeufsTer61,ENST00000398283,NM_001527.3;HDAC2,frameshift_variant,p.Lys414LeufsTer61,ENST00000368632,;HDAC2,frameshift_variant,p.Lys414LeufsTer61,ENST00000519108,;HDAC2,non_coding_transcript_exon_variant,,ENST00000523334,;HDAC2,downstream_gene_variant,,ENST00000520746,;	uc003pwd.1	c.1612_1615delAAAG	1707-1710/9874	5	5			c.1612_1615delAAAG						6	DEL	c.(1612-1617)AAAGCTfs	5	5			skin(2)|ovary(1)|central_nervous_system(1)	4	Broad	histone deacetylase 2		Vorinostat(DB02546)	114264563		0.26	ENSG00000196591	6880	g.chr6:114264560_114264563delCTTT	blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			302			302														0.41	1	1	0	1	0	0	0	0	0	--	--		0	-			HDAC2_uc003pwc.1_Frame_Shift_Del_p.K414fs|HDAC2_uc003pwe.1_Frame_Shift_Del_p.K414fs	181	GBM-26-5132-TP	p.K538fs	CTTT	tcaattctagctttctttgctcct	NM_001527	NP_001518	114264560	Q92769	HDAC2_HUMAN	0		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	12	1612_1615	-	-	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	Frame_Shift_Del	444_445						
HDAC2	0	broad.mit.edu	GRCh37	6	114265495	114265495	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000519065.1:c.1171C>G	p.His391Asp	p.H391D	ENST00000519065		391	Cat/Gat	0			1			C	H/D	uc003pwd.1	protein_coding	YES	CCDS43493.2			1171/1467									skin(2)|ovary(1)|central_nervous_system(1)	4	c.(1453-1455)CAT>GAT			PIRSF_domain:PIRSF037913,hmmpanther:PTHR10625,hmmpanther:PTHR10625:SF60	histone deacetylase 2	Vorinostat(DB02546)			ENSP00000430432		14-Nov									COSM3410539,COSM3410538	14-Nov	.		ENST00000519065	Transcript			blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	ENSG00000196591	g.chr6:114265495G>C	4853			MODERATE		-1.27	neutral	getma.org/?cm=msa&ty=f&p=HDAC2_HUMAN&rb=322&re=488&var=H391D	NA	getma.org/?cm=var&var=hg19,6,114265495,G,C&fts=all	H391D	--	--	1																																		HDAC2_uc003pwc.1_Missense_Mutation_p.H361D|HDAC2_uc003pwe.1_Missense_Mutation_p.H361D	1,1	1		benign(0)	p.H485D	NM_001527	NP_001518		tolerated(0.32)	1,1	HDAC2_HUMAN	HDAC2	HGNC	Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	E5RK19_HUMAN,E5RJ04_HUMAN,E5RHE7_HUMAN,E5RH52_HUMAN,E5RGV4_HUMAN,E5RG37_HUMAN,E5RFI6_HUMAN,B3KRS5_HUMAN		11	1453	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	UPI000020E11B	391					SNV	HDAC2,missense_variant,p.His391Asp,ENST00000519065,;HDAC2,missense_variant,p.His485Asp,ENST00000398283,NM_001527.3;HDAC2,missense_variant,p.His361Asp,ENST00000368632,;HDAC2,missense_variant,p.His361Asp,ENST00000519108,;HDAC2,non_coding_transcript_exon_variant,,ENST00000523334,;HDAC2,downstream_gene_variant,,ENST00000520746,;	uc003pwd.1	c.1453C>G	1548/9874	4	4			c.1453C>G						6	SNP	c.(1453-1455)CAT>GAT	45	45			skin(2)|ovary(1)|central_nervous_system(1)	4	Broad	histone deacetylase 2		Vorinostat(DB02546)	114265495		0.363	ENSG00000196591	6880	g.chr6:114265495G>C	blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			302			302	177.43219	KEEP	39	17	-1	41	34	39	17	-1	178.093833	41	34	0.420168	1	0	0	0	0	1	0	0	0	--	--		0	C			HDAC2_uc003pwc.1_Missense_Mutation_p.H361D|HDAC2_uc003pwe.1_Missense_Mutation_p.H361D	240	GBM-32-2632-TP	p.H485D	G	CTGTCTTCATGAACAGCATCT	NM_001527	NP_001518	114265495	Q92769	HDAC2_HUMAN	0		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	11	1453	-	C	C		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	Missense_Mutation	391						
HDAC4	0	broad.mit.edu	GRCh37	2	240061423	240061423	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4927-01	TCGA-76-4927-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345617.3:c.935C>T	p.Ala312Val	p.A312V	ENST00000345617	NM_006037.3	312	gCg/gTg	0			1			A	A/V	uc002vyk.3	protein_coding	YES	CCDS2529.1			935/3255									breast(3)|skin(2)|ovary(1)	6	c.(934-936)GCG>GTG			PIRSF_domain:PIRSF037911,hmmpanther:PTHR10625,hmmpanther:PTHR10625:SF100,Low_complexity_(Seg):seg	histone deacetylase 4				ENSP00000264606		27-Sep	8.24E-06					1.51E-05			rs752406118,COSM3407734,COSM3407735	27-Sep	.		ENST00000345617	Transcript	1		B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	ENSG00000068024	g.chr2:240061423G>A	14063			MODERATE		0.85	low	getma.org/?cm=msa&ty=f&p=HDAC4_HUMAN&rb=153&re=352&var=A312V	NA	getma.org/?cm=var&var=hg19,2,240061423,G,A&fts=all	A312V	--	--	1																																		HDAC4_uc010fyz.1_Missense_Mutation_p.A307V|HDAC4_uc010zoa.1_Missense_Mutation_p.A307V|HDAC4_uc010fza.2_Missense_Mutation_p.A312V|HDAC4_uc010fyy.2_Missense_Mutation_p.A264V|HDAC4_uc010znz.1_Missense_Mutation_p.A195V|HDAC4_uc010fzb.1_RNA	0,1,1	1		benign(0.043)	p.A312V	NM_006037	NP_006028		tolerated(0.07)	0,1,1	HDAC4_HUMAN	HDAC4	HGNC	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	Q53SM2_HUMAN,Q53SB4_HUMAN,F5H0B1_HUMAN,F5GX36_HUMAN,C9J0X4_HUMAN		9	1727	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	UPI000013D541	312			Interaction with MEF2A.		SNV	HDAC4,missense_variant,p.Ala312Val,ENST00000345617,NM_006037.3;HDAC4,missense_variant,p.Ala281Val,ENST00000541256,;HDAC4,missense_variant,p.Ala56Val,ENST00000445704,;HDAC4,5_prime_UTR_variant,,ENST00000543185,;HDAC4,non_coding_transcript_exon_variant,,ENST00000553145,;HDAC4,non_coding_transcript_exon_variant,,ENST00000493582,;HDAC4,non_coding_transcript_exon_variant,,ENST00000463007,;HDAC4,non_coding_transcript_exon_variant,,ENST00000535493,;HDAC4,non_coding_transcript_exon_variant,,ENST00000461113,;	uc002vyk.3	c.935C>T	1727/8976	1	1			c.935C>T						2	SNP	c.(934-936)GCG>GTG	64	64			breast(3)|skin(2)|ovary(1)	6	Broad	histone deacetylase 4			240061423		0.662	ENSG00000068024	6882	g.chr2:240061423G>A	B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			606			606	-47.948514	KEEP	6	7	-1	149	159	6	7	-1	15.320555	149	159	0.036765	1	0	0	0	0	1	0	0	0	--	--		0	A			HDAC4_uc010fyz.1_Missense_Mutation_p.A307V|HDAC4_uc010zoa.1_Missense_Mutation_p.A307V|HDAC4_uc010fza.2_Missense_Mutation_p.A312V|HDAC4_uc010fyy.2_Missense_Mutation_p.A264V|HDAC4_uc010znz.1_Missense_Mutation_p.A195V|HDAC4_uc010fzb.1_RNA	267	GBM-76-4927-TP	p.A312V	G	ACCGTTCTCCGCGCTGACGCT	NM_006037	NP_006028	240061423	P56524	HDAC4_HUMAN	0		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	9	1727	-	A	A		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	Missense_Mutation	312			Interaction with MEF2A.			
HDAC6	10013	broad.mit.edu	GRCh37	X	48681101	48681101	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-06-5856-01	TCGA-06-5856-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334136.5:c.2409A>C	p.Pro803=	p.P803=	ENST00000334136		803	ccA/ccC	0			1			C	P	uc011mmi.1	protein_coding	YES	CCDS14306.1			2409/3648									ovary(3)|upper_aerodigestive_tract(1)	4	c.(2407-2409)CCA>CCC			Low_complexity_(Seg):seg,hmmpanther:PTHR10625:SF102,hmmpanther:PTHR10625,Gene3D:3.40.800.20,Superfamily_domains:SSF52768	histone deacetylase 6	Vorinostat(DB02546)			ENSP00000334061		24/29	0.00121	0.00063		0.00192	0.00542	0.000551		0.000218	rs781835040,COSM311726,COSM3748200	24/29	common_variant		ENST00000334136	Transcript	1		aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	ENSG00000094631	g.chrX:48681101A>C	14064			LOW								--	--	1																																		HDAC6_uc004dks.1_Silent_p.P803P|HDAC6_uc010nig.1_Silent_p.P651P|HDAC6_uc004dkt.1_Silent_p.P803P|HDAC6_uc011mmk.1_Silent_p.P784P|HDAC6_uc004dkv.1_Silent_p.P451P|HDAC6_uc004dkw.1_Silent_p.P451P|HDAC6_uc004dkx.1_Silent_p.P166P	0,1,1	1			p.P803P	NM_006044	NP_006035			0,1,1	HDAC6_HUMAN	HDAC6	HGNC	Q9UBN7	HDAC6_HUMAN			E9PEH1_HUMAN,E7ER52_HUMAN,E7EP63_HUMAN,C9JEF4_HUMAN,C9J172_HUMAN,A6NDI8_HUMAN		24	2504	+			UPI0000073E04	803					SNV	HDAC6,synonymous_variant,p.=,ENST00000334136,;HDAC6,synonymous_variant,p.=,ENST00000376619,NM_006044.2;HDAC6,synonymous_variant,p.=,ENST00000444343,;HDAC6,upstream_gene_variant,,ENST00000430858,;HDAC6,non_coding_transcript_exon_variant,,ENST00000498808,;HDAC6,non_coding_transcript_exon_variant,,ENST00000480525,;HDAC6,downstream_gene_variant,,ENST00000486665,;HDAC6,non_coding_transcript_exon_variant,,ENST00000477528,;HDAC6,non_coding_transcript_exon_variant,,ENST00000486227,;HDAC6,non_coding_transcript_exon_variant,,ENST00000488543,;HDAC6,downstream_gene_variant,,ENST00000470942,;HDAC6,downstream_gene_variant,,ENST00000483506,;HDAC6,downstream_gene_variant,,ENST00000489053,;	uc011mmi.1	c.2409A>C	2587/4190	4	4			c.2409A>C						23	SNP	c.(2407-2409)CCA>CCC	45	45			ovary(3)|upper_aerodigestive_tract(1)	4	Broad	histone deacetylase 6		Vorinostat(DB02546)	48681101		0.587	ENSG00000094631	6884	g.chrX:48681101A>C	aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	Pancreas(112;205 1675 2305 8976 15959)		170	Pancreas(112;205 1675 2305 8976 15959)		170	5.553697	KEEP	3	9	-1	13	8	3	9	-1	7.38174	13	8	0.230769	1	0	0	0	0	0	0	1	0	--	--		0	C			HDAC6_uc004dks.1_Silent_p.P803P|HDAC6_uc010nig.1_Silent_p.P651P|HDAC6_uc004dkt.1_Silent_p.P803P|HDAC6_uc011mmk.1_Silent_p.P784P|HDAC6_uc004dkv.1_Silent_p.P451P|HDAC6_uc004dkw.1_Silent_p.P451P|HDAC6_uc004dkx.1_Silent_p.P166P	101	GBM-06-5856-TP	p.P803P	A	GAGACCCACCACCCCTGCTGA	NM_006044	NP_006035	48681101	Q9UBN7	HDAC6_HUMAN	0			24	2504	+	C	C			Silent	803						
HDAC6	0	broad.mit.edu	GRCh37	X	48661362	48661362	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334136.5:c.178G>A	p.Gly60Ser	p.G60S	ENST00000334136		60	Ggc/Agc	0			1			A	G/S	uc011mmi.1	protein_coding	YES	CCDS14306.1			178/3648									ovary(3)|upper_aerodigestive_tract(1)	4	c.(178-180)GGC>AGC				histone deacetylase 6	Vorinostat(DB02546)			ENSP00000334061		29-Mar									COSM3406422,COSM3406423	29-Mar	.		ENST00000334136	Transcript	1		aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	ENSG00000094631	g.chrX:48661362G>A	14064			MODERATE		-0.55	neutral	getma.org/?cm=msa&ty=f&p=HDAC6_HUMAN&rb=31&re=91&var=G60S	NA	getma.org/?cm=var&var=hg19,X,48661362,G,A&fts=all	G60S	--	--	1																																		HDAC6_uc004dkr.1_Missense_Mutation_p.G60S|HDAC6_uc004dks.1_Missense_Mutation_p.G60S|HDAC6_uc010nig.1_5'UTR|HDAC6_uc004dkt.1_Missense_Mutation_p.G60S|HDAC6_uc004dku.3_Missense_Mutation_p.G60S|HDAC6_uc011mmj.1_Missense_Mutation_p.G5S|HDAC6_uc011mmk.1_Missense_Mutation_p.G41S	1,1	1		benign(0.002)	p.G60S	NM_006044	NP_006035		tolerated(1)	1,1	HDAC6_HUMAN	HDAC6	HGNC	Q9UBN7	HDAC6_HUMAN			E9PEH1_HUMAN,E7ER52_HUMAN,E7EP63_HUMAN,C9JEF4_HUMAN,C9J172_HUMAN,A6NDI8_HUMAN		3	273	+			UPI0000073E04	60					SNV	HDAC6,missense_variant,p.Gly60Ser,ENST00000334136,;HDAC6,missense_variant,p.Gly60Ser,ENST00000376619,NM_006044.2;HDAC6,missense_variant,p.Gly74Ser,ENST00000444343,;HDAC6,missense_variant,p.Gly5Ser,ENST00000413163,;HDAC6,missense_variant,p.Gly60Ser,ENST00000376643,;HDAC6,missense_variant,p.Gly60Ser,ENST00000426196,;HDAC6,missense_variant,p.Gly60Ser,ENST00000376610,;HDAC6,missense_variant,p.Gly60Ser,ENST00000440653,;HDAC6,missense_variant,p.Gly60Ser,ENST00000441703,;HDAC6,missense_variant,p.Gly60Ser,ENST00000423941,;HDAC6,missense_variant,p.Gly60Ser,ENST00000443563,;HDAC6,downstream_gene_variant,,ENST00000438518,;HDAC6,non_coding_transcript_exon_variant,,ENST00000469223,;HDAC6,non_coding_transcript_exon_variant,,ENST00000477561,;HDAC6,non_coding_transcript_exon_variant,,ENST00000483656,;HDAC6,non_coding_transcript_exon_variant,,ENST00000477528,;HDAC6,non_coding_transcript_exon_variant,,ENST00000462730,;HDAC6,non_coding_transcript_exon_variant,,ENST00000465269,;HDAC6,non_coding_transcript_exon_variant,,ENST00000476625,;HDAC6,non_coding_transcript_exon_variant,,ENST00000481929,;HDAC6,non_coding_transcript_exon_variant,,ENST00000489352,;HDAC6,non_coding_transcript_exon_variant,,ENST00000468949,;HDAC6,non_coding_transcript_exon_variant,,ENST00000493923,;HDAC6,upstream_gene_variant,,ENST00000461608,;	uc011mmi.1	c.178G>A	356/4190	1	1			c.178G>A						23	SNP	c.(178-180)GGC>AGC	52	52			ovary(3)|upper_aerodigestive_tract(1)	4	Broad	histone deacetylase 6		Vorinostat(DB02546)	48661362		0.488	ENSG00000094631	6884	g.chrX:48661362G>A	aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	Pancreas(112;205 1675 2305 8976 15959)		170	Pancreas(112;205 1675 2305 8976 15959)		170	20.582924	KEEP	2	6	-1	17	11	2	6	-1	22.761468	17	11	0.235294	1	0	0	0	0	1	0	0	0	--	--		0	A			HDAC6_uc004dkr.1_Missense_Mutation_p.G60S|HDAC6_uc004dks.1_Missense_Mutation_p.G60S|HDAC6_uc010nig.1_5'UTR|HDAC6_uc004dkt.1_Missense_Mutation_p.G60S|HDAC6_uc004dku.3_Missense_Mutation_p.G60S|HDAC6_uc011mmj.1_Missense_Mutation_p.G5S|HDAC6_uc011mmk.1_Missense_Mutation_p.G41S	232	GBM-32-1982-TP	p.G60S	G	GAAGAAGCTCGGCCAAGCAAT	NM_006044	NP_006035	48661362	Q9UBN7	HDAC6_HUMAN	0			3	273	+	A	A			Missense_Mutation	60						
HDAC7	51564		GRCh37	12	48181754	48181754	+	intron_variant	Intron	SNP	G	G	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000080059.7:c.2355+74C>T		p.*785*	ENST00000080059	NM_015401.3			0																																																																																																																																																																																																																																												
HDAC9	9734	broad.mit.edu	GRCh37	7	18788727	18788727	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000441542.2:c.2009G>A	p.Arg670Gln	p.R670Q	ENST00000441542	NM_178425.2	670	cGa/cAa	0			1			A	R/Q	uc003suh.2	protein_coding		CCDS47555.1			2000/3036									lung(2)|central_nervous_system(2)|kidney(1)	5	c.(1999-2001)CGA>CAA			Gene3D:3.40.800.20,Pfam_domain:PF00850,PIRSF_domain:PIRSF037911,hmmpanther:PTHR10625,hmmpanther:PTHR10625:SF116,Superfamily_domains:SSF52768	histone deacetylase 9 isoform 1	Valproic Acid(DB00313)			ENSP00000410337		13/23									COSM3307232,COSM3307231	13/23	.		ENST00000432645	Transcript	1		B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	ENSG00000048052	g.chr7:18788727G>A	14065			MODERATE		1.74	low	getma.org/?cm=msa&ty=f&p=HDAC9_HUMAN&rb=643&re=973&var=R667Q	getma.org/pdb.php?prot=HDAC9_HUMAN&from=643&to=973&var=R667Q	getma.org/?cm=var&var=hg19,7,18788727,G,A&fts=all	R667Q	--	--	1																																		HDAC9_uc003sue.2_Missense_Mutation_p.R667Q|HDAC9_uc011jyd.1_Missense_Mutation_p.R667Q|HDAC9_uc003sui.2_Missense_Mutation_p.R670Q|HDAC9_uc003suj.2_Missense_Mutation_p.R626Q|HDAC9_uc003sua.1_Missense_Mutation_p.R645Q|HDAC9_uc010kue.1_Missense_Mutation_p.R322Q	1,1			probably_damaging(0.985)	p.R667Q	NM_058176	NP_478056		deleterious(0)	1,1	HDAC9_HUMAN	HDAC9	HGNC	Q9UKV0	HDAC9_HUMAN			Q75N15_HUMAN,Q75N14_HUMAN,Q75N10_HUMAN,Q75N08_HUMAN,C9JLX1_HUMAN,C9JD56_HUMAN		13	2041	+	all_lung(11;0.187)		UPI000012C3B3	667			Histone deacetylase.		SNV	HDAC9,missense_variant,p.Arg667Gln,ENST00000406451,NM_178423.1;HDAC9,missense_variant,p.Arg626Gln,ENST00000401921,;HDAC9,missense_variant,p.Arg670Gln,ENST00000441542,NM_178425.2;HDAC9,missense_variant,p.Arg667Gln,ENST00000432645,NM_058176.2;HDAC9,non_coding_transcript_exon_variant,,ENST00000523867,;HDAC9,non_coding_transcript_exon_variant,,ENST00000461159,;	uc003suh.2	c.2000G>A	2000/3099	1	1			c.2000G>A						7	SNP	c.(1999-2001)CGA>CAA	51	51			lung(2)|central_nervous_system(2)|kidney(1)	5	Broad	histone deacetylase 9 isoform 1		Valproic Acid(DB00313)	18788727		0.438	ENSG00000048052	6887	g.chr7:18788727G>A	B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity							50.773097	KEEP	11	11	-1	14	18	11	11	-1	51.456771	14	18	0.369565	1	0	0	0	0	1	0	0	0	--	--		0	A			HDAC9_uc003sue.2_Missense_Mutation_p.R667Q|HDAC9_uc011jyd.1_Missense_Mutation_p.R667Q|HDAC9_uc003sui.2_Missense_Mutation_p.R670Q|HDAC9_uc003suj.2_Missense_Mutation_p.R626Q|HDAC9_uc003sua.1_Missense_Mutation_p.R645Q|HDAC9_uc010kue.1_Missense_Mutation_p.R322Q	23	GBM-06-0145-TP	p.R667Q	G	ATCTGGTCACGACTGCAAGAA	NM_058176	NP_478056	18788727	Q9UKV0	HDAC9_HUMAN	0			13	2041	+	A	A	all_lung(11;0.187)		Missense_Mutation	667			Histone deacetylase.			
HDAC9	9734	broad.mit.edu	GRCh37	7	18868807	18868807	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-0211-01	TCGA-06-0211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000441542.2:c.2346C>A	p.Pro782=	p.P782=	ENST00000441542	NM_178425.2	782	ccC/ccA	0			1			A	P	uc003suh.2	protein_coding		CCDS47555.1			2337/3036									lung(2)|central_nervous_system(2)|kidney(1)	5	c.(2335-2337)CCC>CCA			Gene3D:3.40.800.20,Pfam_domain:PF00850,PIRSF_domain:PIRSF037911,Prints_domain:PR01270,hmmpanther:PTHR10625,hmmpanther:PTHR10625:SF116,Superfamily_domains:SSF52768	histone deacetylase 9 isoform 1	Valproic Acid(DB00313)			ENSP00000410337		17/23									COSM2150774,COSM2150773	17/23	.		ENST00000432645	Transcript	1		B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	ENSG00000048052	g.chr7:18868807C>A	14065			LOW								--	--	1																																		HDAC9_uc003sue.2_Silent_p.P779P|HDAC9_uc011jyd.1_Silent_p.P779P|HDAC9_uc003sui.2_Silent_p.P782P|HDAC9_uc003suj.2_Silent_p.P738P|HDAC9_uc003suk.2_Silent_p.P27P|HDAC9_uc003sua.1_Silent_p.P757P	1,1				p.P779P	NM_058176	NP_478056			1,1	HDAC9_HUMAN	HDAC9	HGNC	Q9UKV0	HDAC9_HUMAN			Q75N15_HUMAN,Q75N14_HUMAN,Q75N10_HUMAN,Q75N08_HUMAN,C9JLX1_HUMAN,C9JD56_HUMAN		17	2378	+	all_lung(11;0.187)		UPI000012C3B3	779			Histone deacetylase.		SNV	HDAC9,synonymous_variant,p.=,ENST00000406451,NM_178423.1;HDAC9,synonymous_variant,p.=,ENST00000401921,;HDAC9,synonymous_variant,p.=,ENST00000441542,NM_178425.2;HDAC9,synonymous_variant,p.=,ENST00000432645,NM_058176.2;HDAC9,non_coding_transcript_exon_variant,,ENST00000523867,;HDAC9,non_coding_transcript_exon_variant,,ENST00000461159,;HDAC9,non_coding_transcript_exon_variant,,ENST00000490851,;	uc003suh.2	c.2337C>A	2337/3099	2	2			c.2337C>A						7	SNP	c.(2335-2337)CCC>CCA	44	44			lung(2)|central_nervous_system(2)|kidney(1)	5	Broad	histone deacetylase 9 isoform 1		Valproic Acid(DB00313)	18868807		0.537	ENSG00000048052	6887	g.chr7:18868807C>A	B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity							161.849867	KEEP	39	37	0.486842105	121	101	39	37	0.486842105	173.934712	121	101	0.267206	1	0	0	0	0	0	0	1	0	--	--		0	A			HDAC9_uc003sue.2_Silent_p.P779P|HDAC9_uc011jyd.1_Silent_p.P779P|HDAC9_uc003sui.2_Silent_p.P782P|HDAC9_uc003suj.2_Silent_p.P738P|HDAC9_uc003suk.2_Silent_p.P27P|HDAC9_uc003sua.1_Silent_p.P757P	48	GBM-06-0211-TP	p.P779P	C	TTGTGAGGCCCCCTGGCCATC	NM_058176	NP_478056	18868807	Q9UKV0	HDAC9_HUMAN	0			17	2378	+	A	A	all_lung(11;0.187)		Silent	779			Histone deacetylase.			
HDAC9	0	broad.mit.edu	GRCh37	7	18624954	18624954	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01	TCGA-76-4926-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000432645.2:c.73G>A	p.Asp25Asn	p.D25N	ENST00000432645	NM_058176.2	25	Gac/Aac	0			1			A	D/N	uc003suh.2	protein_coding		CCDS47555.1			73/3036									lung(2)|central_nervous_system(2)|kidney(1)	5	c.(73-75)GAC>AAC			PIRSF_domain:PIRSF037911	histone deacetylase 9 isoform 1	Valproic Acid(DB00313)			ENSP00000410337		23-Feb									COSM3411890,COSM3411887,COSM3411888,COSM3411889	23-Feb	.		ENST00000432645	Transcript	1		B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	ENSG00000048052	g.chr7:18624954G>A	14065			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=HDAC9_HUMAN&rb=1&re=35&var=D25N	NA	getma.org/?cm=var&var=hg19,7,18624954,G,A&fts=all	D25N	--	--	1																																		HDAC9_uc003sue.2_Missense_Mutation_p.D25N|HDAC9_uc011jyd.1_Missense_Mutation_p.D25N|HDAC9_uc003sui.2_Missense_Mutation_p.D25N|HDAC9_uc003suj.2_Missense_Mutation_p.D25N|HDAC9_uc011jya.1_Missense_Mutation_p.D66N|HDAC9_uc003sua.1_Missense_Mutation_p.D44N|HDAC9_uc011jyb.1_Missense_Mutation_p.D25N|HDAC9_uc003sud.1_Missense_Mutation_p.D25N|HDAC9_uc011jyc.1_Missense_Mutation_p.D25N|HDAC9_uc003suf.1_Missense_Mutation_p.D53N|HDAC9_uc010kud.1_Missense_Mutation_p.D25N|HDAC9_uc011jye.1_5'UTR|HDAC9_uc011jyf.1_5'UTR	1,1,1,1			probably_damaging(0.922)	p.D25N	NM_058176	NP_478056		deleterious(0)	1,1,1,1	HDAC9_HUMAN	HDAC9	HGNC	Q9UKV0	HDAC9_HUMAN			Q75N15_HUMAN,Q75N14_HUMAN,Q75N10_HUMAN,Q75N08_HUMAN,C9JLX1_HUMAN,C9JD56_HUMAN		2	114	+	all_lung(11;0.187)		UPI000012C3B3	25			Interaction with CTBP1 (By similarity).		SNV	HDAC9,missense_variant,p.Asp25Asn,ENST00000406451,NM_178423.1;HDAC9,missense_variant,p.Asp25Asn,ENST00000405010,NM_014707.1;HDAC9,missense_variant,p.Asp53Asn,ENST00000406072,;HDAC9,missense_variant,p.Asp25Asn,ENST00000401921,;HDAC9,missense_variant,p.Asp25Asn,ENST00000441542,NM_178425.2;HDAC9,missense_variant,p.Asp25Asn,ENST00000432645,NM_058176.2;HDAC9,missense_variant,p.Asp67Asn,ENST00000417496,NM_001204144.1;HDAC9,missense_variant,p.Asp25Asn,ENST00000428307,NM_001204145.1,NM_001204146.1;HDAC9,missense_variant,p.Asp25Asn,ENST00000413380,;HDAC9,missense_variant,p.Asp25Asn,ENST00000413509,;HDAC9,5_prime_UTR_variant,,ENST00000456174,NM_001204148.1;HDAC9,5_prime_UTR_variant,,ENST00000524023,NM_001204147.1;HDAC9,5_prime_UTR_variant,,ENST00000441986,;HDAC9,5_prime_UTR_variant,,ENST00000430454,;HDAC9,downstream_gene_variant,,ENST00000433709,;HDAC9,non_coding_transcript_exon_variant,,ENST00000476135,;HDAC9,missense_variant,p.Arg21Lys,ENST00000446646,;HDAC9,non_coding_transcript_exon_variant,,ENST00000523867,;HDAC9,non_coding_transcript_exon_variant,,ENST00000461159,;	uc003suh.2	c.73G>A	73/3099	2	2			c.73G>A						7	SNP	c.(73-75)GAC>AAC	17	17			lung(2)|central_nervous_system(2)|kidney(1)	5	Broad	histone deacetylase 9 isoform 1		Valproic Acid(DB00313)	18624954		0.498	ENSG00000048052	6887	g.chr7:18624954G>A	B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity							340.17894	KEEP	75	73	-1	211	204	75	73	-1	368.260319	211	204	0.258912	1	0	0	0	0	1	0	0	0	--	--		0	A			HDAC9_uc003sue.2_Missense_Mutation_p.D25N|HDAC9_uc011jyd.1_Missense_Mutation_p.D25N|HDAC9_uc003sui.2_Missense_Mutation_p.D25N|HDAC9_uc003suj.2_Missense_Mutation_p.D25N|HDAC9_uc011jya.1_Missense_Mutation_p.D66N|HDAC9_uc003sua.1_Missense_Mutation_p.D44N|HDAC9_uc011jyb.1_Missense_Mutation_p.D25N|HDAC9_uc003sud.1_Missense_Mutation_p.D25N|HDAC9_uc011jyc.1_Missense_Mutation_p.D25N|HDAC9_uc003suf.1_Missense_Mutation_p.D53N|HDAC9_uc010kud.1_Missense_Mutation_p.D25N|HDAC9_uc011jye.1_5'UTR|HDAC9_uc011jyf.1_5'UTR	266	GBM-76-4926-TP	p.D25N	G	CTCACCTTTAGACCTAAGGAC	NM_058176	NP_478056	18624954	Q9UKV0	HDAC9_HUMAN	0			2	114	+	A	A	all_lung(11;0.187)		Missense_Mutation	25			Interaction with CTBP1 (By similarity).			
HDC	3067	broad.mit.edu	GRCh37	15	50549631	50549631	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267845.3:c.432C>T	p.Gly144=	p.G144=	ENST00000267845	NM_002112.3	144	ggC/ggT	0			1			A	G	uc001zxz.2	protein_coding	YES	CCDS10134.1			432/1989									large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	c.(430-432)GGC>GGT			hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF68,Pfam_domain:PF00282,Gene3D:3.40.640.10,Superfamily_domains:SSF53383,Prints_domain:PR00800	histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)			ENSP00000267845		12-Apr	2.47E-05					3.00E-05		6.06E-05	rs757801293,COSM2149704	12-Apr	.		ENST00000267845	Transcript			catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	ENSG00000140287	g.chr15:50549631G>A	4855			LOW								--	--	1																																		HDC_uc010uff.1_Silent_p.G144G|HDC_uc010bet.1_Intron|HDC_uc010beu.1_Silent_p.G144G	0,1	1			p.G144G	NM_002112	NP_002103			0,1	DCHS_HUMAN	HDC	HGNC	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)			4	538	-		all_lung(180;0.0138)	UPI0000128FB4	144					SNV	HDC,synonymous_variant,p.=,ENST00000267845,NM_002112.3;HDC,synonymous_variant,p.=,ENST00000543581,;HDC,synonymous_variant,p.=,ENST00000559683,;HDC,non_coding_transcript_exon_variant,,ENST00000558679,;HDC,intron_variant,,ENST00000558761,;HDC,intron_variant,,ENST00000559190,;HDC,upstream_gene_variant,,ENST00000559816,;	uc001zxz.2	c.432C>T	835/2705	1	1			c.432C>T						15	SNP	c.(430-432)GGC>GGT	60	60			large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Broad	histidine decarboxylase		L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	50549631		0.562	ENSG00000140287	6888	g.chr15:50549631G>A	catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	GBM(95;1627 1936 6910 9570)			GBM(95;1627 1936 6910 9570)			122.694	KEEP	28	27	-1	45	39	28	27	-1	124.203949	45	39	0.377193	1	0	0	0	0	0	0	1	0	--	--		0	A			HDC_uc010uff.1_Silent_p.G144G|HDC_uc010bet.1_Intron|HDC_uc010beu.1_Silent_p.G144G	23	GBM-06-0145-TP	p.G144G	G	CCTGCAGGACGCCTCCGCCCT	NM_002112	NP_002103	50549631	P19113	DCHS_HUMAN	0		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	4	538	-	A	A		all_lung(180;0.0138)	Silent	144						
HDC	3067	broad.mit.edu	GRCh37	15	50535347	50535347	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267845.3:c.1235G>A	p.Arg412His	p.R412H	ENST00000267845	NM_002112.3	412	cGt/cAt	0			1			T	R/H	uc001zxz.2	protein_coding	YES	CCDS10134.1			1235/1989									large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	c.(1234-1236)CGT>CAT			hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF68,Pfam_domain:PF00282,Gene3D:3.90.1150.10,Superfamily_domains:SSF53383,Prints_domain:PR00800	histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)			ENSP00000267845		12-Nov	1.65E-05					1.50E-05		6.06E-05	rs764847892,COSM3401803	12-Nov	.		ENST00000267845	Transcript			catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	ENSG00000140287	g.chr15:50535347C>T	4855			MODERATE		3.92	high	getma.org/?cm=msa&ty=f&p=DCHS_HUMAN&rb=36&re=414&var=R412H	getma.org/pdb.php?prot=DCHS_HUMAN&from=36&to=414&var=R412H	getma.org/?cm=var&var=hg19,15,50535347,C,T&fts=all	R412H	--	--	1																																		HDC_uc001zxy.2_Missense_Mutation_p.R155H|HDC_uc010uff.1_Missense_Mutation_p.R379H	0,1	1		probably_damaging(0.999)	p.R412H	NM_002112	NP_002103		deleterious(0)	0,1	DCHS_HUMAN	HDC	HGNC	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)			11	1341	-		all_lung(180;0.0138)	UPI0000128FB4	412					SNV	HDC,missense_variant,p.Arg412His,ENST00000267845,NM_002112.3;HDC,missense_variant,p.Arg379His,ENST00000543581,;RN7SL494P,downstream_gene_variant,,ENST00000461517,;HDC,non_coding_transcript_exon_variant,,ENST00000559816,;	uc001zxz.2	c.1235G>A	1638/2705	2	2			c.1235G>A						15	SNP	c.(1234-1236)CGT>CAT	17	17			large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Broad	histidine decarboxylase		L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	50535347		0.483	ENSG00000140287	6888	g.chr15:50535347C>T	catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	GBM(95;1627 1936 6910 9570)			GBM(95;1627 1936 6910 9570)			9.584322	KEEP	7	5	-1	41	47	7	5	-1	22.795976	41	47	0.11236	1	0	0	0	0	1	0	0	0	--	--		0	T			HDC_uc001zxy.2_Missense_Mutation_p.R155H|HDC_uc010uff.1_Missense_Mutation_p.R379H	46	GBM-06-0209-TP	p.R412H	C	TACCTTTAGACGAAAAACCAC	NM_002112	NP_002103	50535347	P19113	DCHS_HUMAN	0		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	11	1341	-	T	T		all_lung(180;0.0138)	Missense_Mutation	412						
HDC	3067		GRCh37	15	50534686	50534686	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000267845.3:c.1760G>T	p.Cys587Phe	p.C587F	ENST00000267845	NM_002112.3	587	tGc/tTc	0																																																																																																																																																																																																																																												
HDC	3067		GRCh37	15	50534668	50534668	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000267845.3:c.1778G>T	p.Ser593Ile	p.S593I	ENST00000267845	NM_002112.3	593	aGt/aTt	0																																																																																																																																																																																																																																												
HDGF	3068		GRCh37	1	156713958	156713958	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000368206.5:c.534G>A	p.Leu178=	p.L178=	ENST00000368206	NM_001126050.1	178	ctG/ctA	0																																																																																																																																																																																																																																												
HDGFL2	0	broad.mit.edu	GRCh37	19	4475292	4475292	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-5214-01	TCGA-28-5214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301284.4:c.93C>T	p.Gly31=	p.G31=	ENST00000301284	NM_001001520.1	31	ggC/ggT	0			1			T	G	uc002mao.2	protein_coding	YES	CCDS42472.1			93/2031										0	c.(91-93)GGC>GGT			Gene3D:2.30.30.160,Pfam_domain:PF00855,PROSITE_profiles:PS50812,hmmpanther:PTHR12550,hmmpanther:PTHR12550:SF18,SMART_domains:SM00293,Superfamily_domains:SSF63748	hepatoma-derived growth factor-related protein 2				ENSP00000301284		16-Feb	1.65E-05		0.000173						rs775237759,COSM3404357	16-Feb	.		ENST00000301284	Transcript			transcription, DNA-dependent	nucleus	DNA binding|protein binding	ENSG00000167674	g.chr19:4475292C>T				LOW								--	--	1																																		HDGFRP2_uc002map.2_Silent_p.G31G|HDGFRP2_uc010dtz.1_5'Flank	0,1	1			p.G31G	NM_001001520	NP_001001520			0,1	HDGR2_HUMAN	HDGFRP2	Uniprot_gn	Q7Z4V5	HDGR2_HUMAN			K7EQ06_HUMAN,K7EJP7_HUMAN,K7EIG6_HUMAN		2	186	+			UPI000013E6F7	31			PWWP.		SNV	HDGFRP2,synonymous_variant,p.=,ENST00000301284,NM_001001520.1,NM_032631.2;HDGFRP2,synonymous_variant,p.=,ENST00000586684,;HDGFRP2,5_prime_UTR_variant,,ENST00000589486,;HDGFRP2,5_prime_UTR_variant,,ENST00000592691,;CTB-50L17.16,upstream_gene_variant,,ENST00000589066,;CTB-50L17.16,upstream_gene_variant,,ENST00000590989,;HDGFRP2,synonymous_variant,p.=,ENST00000601353,;HDGFRP2,upstream_gene_variant,,ENST00000590872,;AC011498.1,upstream_gene_variant,,ENST00000403568,;	uc002mao.2	c.93C>T	157/2296	2	2			c.93C>T						19	SNP	c.(91-93)GGC>GGT	39	39				0	Broad	hepatoma-derived growth factor-related protein 2			4475292		0.562	ENSG00000167674	6893	g.chr19:4475292C>T	transcription, DNA-dependent	nucleus	DNA binding|protein binding							9.091533	KEEP	7	8	-1	61	65	7	8	-1	26.435241	61	65	0.116667	1	0	0	0	0	0	0	1	0	--	--		0	T			HDGFRP2_uc002map.2_Silent_p.G31G|HDGFRP2_uc010dtz.1_5'Flank	221	GBM-28-5214-TP	p.G31G	C	TCGCGGATGGCGCCGTGAAGC	NM_001001520	NP_001001520	4475292	Q7Z4V5	HDGR2_HUMAN	0			2	186	+	T	T			Silent	31			PWWP.			
HDHD1	0	broad.mit.edu	GRCh37	X	6995419	6995419	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000424830.2:c.421G>A	p.Ala141Thr	p.A141T	ENST00000424830	NM_001135565.1	141	Gcg/Acg	0			1			T	A/T	uc004crv.2	protein_coding		CCDS48075.1			352/687										0	c.(352-354)GCG>ACG			hmmpanther:PTHR18901:SF10,hmmpanther:PTHR18901,TIGRFAM_domain:TIGR01509,Pfam_domain:PF13419,Gene3D:3.40.50.1000,Superfamily_domains:SSF56784	haloacid dehalogenase-like hydrolase domain				ENSP00000370467		4-Mar	9.93E-05					0.000148			rs182257555,COSM3406550	4-Mar	.		ENST00000381077	Transcript			nucleotide metabolic process		metal ion binding|phosphatase activity	ENSG00000130021	g.chrX:6995419C>T	16818			MODERATE		1.37	low	getma.org/?cm=msa&ty=f&p=HDHD1_HUMAN&rb=11&re=194&var=A118T	getma.org/pdb.php?prot=HDHD1_HUMAN&from=11&to=194&var=A118T	getma.org/?cm=var&var=hg19,X,6995419,C,T&fts=all	A118T	--	--	1																																		HDHD1A_uc011mhm.1_Missense_Mutation_p.A141T|HDHD1A_uc011mhn.1_Missense_Mutation_p.A75T|HDHD1A_uc010ndl.2_Intron|HDHD1A_uc011mho.1_Missense_Mutation_p.A118T	0,1			benign(0.009)	p.A118T	NM_012080	NP_036212		tolerated(0.7)	0,1	HDHD1_HUMAN	HDHD1	HGNC	Q08623	HDHD1_HUMAN					3	429	-		Colorectal(8;0.0114)|Medulloblastoma(8;0.184)	UPI000013CD53	118					SNV	HDHD1,missense_variant,p.Ala118Thr,ENST00000381077,NM_012080.4,NM_001178136.1;HDHD1,missense_variant,p.Ala75Thr,ENST00000412827,;HDHD1,missense_variant,p.Ala141Thr,ENST00000424830,NM_001135565.1;HDHD1,missense_variant,p.Ala118Thr,ENST00000540122,NM_001178135.1;HDHD1,missense_variant,p.Ala118Thr,ENST00000486446,;	uc004crv.2	c.352G>A	429/2140	2	2			c.352G>A						23	SNP	c.(352-354)GCG>ACG	22	22				0	Broad	haloacid dehalogenase-like hydrolase domain			6995419		0.582	ENSG00000130021	6895	g.chrX:6995419C>T	nucleotide metabolic process		metal ion binding|phosphatase activity							52.237567	KEEP	14	12	-1	3	11	14	12	-1	52.498253	3	11	0.6	1	0	0	0	0	1	0	0	0	--	--		0	T			HDHD1A_uc011mhm.1_Missense_Mutation_p.A141T|HDHD1A_uc011mhn.1_Missense_Mutation_p.A75T|HDHD1A_uc010ndl.2_Intron|HDHD1A_uc011mho.1_Missense_Mutation_p.A118T	102	GBM-06-5858-TP	p.A118T	C	TCGAACGACGCGGACCCCGAG	NM_012080	NP_036212	6995419	Q08623	HDHD1_HUMAN	0			3	429	-	T	T		Colorectal(8;0.0114)|Medulloblastoma(8;0.184)	Missense_Mutation	118						
HDHD2	84064	broad.mit.edu	GRCh37	18	44635107	44635110	+	frameshift_variant	Frame_Shift_Del	DEL	TAAG	TAAG	-			TCGA-06-0744-01	TCGA-06-0744-01	TAAG	TAAG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300605.6:c.723_726del	p.Tyr241Ter	p.Y241*	ENST00000300605	NM_032124.4	241	taCTTA/ta	0			1			-	YL/X	uc002lcs.2	protein_coding	YES	CCDS32829.1			723-726/780										0	c.(721-726)TACTTAfs			hmmpanther:PTHR19288:SF36,hmmpanther:PTHR19288,Pfam_domain:PF13242,TIGRFAM_domain:TIGR01458,Gene3D:3.40.50.1000,Superfamily_domains:SSF56784	haloacid dehalogenase-like hydrolase domain				ENSP00000300605		7-Jul										7-Jul	.		ENST00000300605	Transcript					hydrolase activity	ENSG00000167220	g.chr18:44635107_44635110delTAAG	25364			HIGH								--	--	1																																		HDHD2_uc002lct.2_Frame_Shift_Del_p.Y151fs		1			p.Y241fs	NM_032124	NP_115500				HDHD2_HUMAN	HDHD2	HGNC	Q9H0R4	HDHD2_HUMAN			K7ER15_HUMAN,K7EQD2_HUMAN		7	856_859	-			UPI0000037B93	241_242					deletion	HDHD2,frameshift_variant,p.Tyr241Ter,ENST00000300605,NM_032124.4;RP11-49K24.8,downstream_gene_variant,,ENST00000591183,;HDHD2,non_coding_transcript_exon_variant,,ENST00000587841,;HDHD2,3_prime_UTR_variant,,ENST00000588183,;HDHD2,non_coding_transcript_exon_variant,,ENST00000588861,;	uc002lcs.2	c.723_726delCTTA	876-879/2212	5	5			c.723_726delCTTA						18	DEL	c.(721-726)TACTTAfs	49	49				0	Broad	haloacid dehalogenase-like hydrolase domain			44635110		0.407	ENSG00000167220	6896	g.chr18:44635107_44635110delTAAG			hydrolase activity																				0.42	1	1	0	1	0	0	0	0	0	--	--		0	-			HDHD2_uc002lct.2_Frame_Shift_Del_p.Y151fs	66	GBM-06-0744-TP	p.Y241fs	TAAG	TCTCACAAGTTAAGTAAGGAGGTG	NM_032124	NP_115500	44635107	Q9H0R4	HDHD2_HUMAN	0			7	856_859	-	-	-			Frame_Shift_Del	241_242						
HDLBP	3069	broad.mit.edu	GRCh37	2	242173290	242173290	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0169-01	TCGA-06-0169-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000391975.1:c.3233T>C	p.Ile1078Thr	p.I1078T	ENST00000391975	NM_203346.3	1078	aTc/aCc	0			1			G	I/T	uc002waz.2	protein_coding	YES	CCDS2547.1			3233/3807									breast(3)|skin(1)	4	c.(3232-3234)ATC>ACC			PROSITE_profiles:PS50084,hmmpanther:PTHR10627:SF34,hmmpanther:PTHR10627,Pfam_domain:PF00013,Gene3D:3.30.1370.10,SMART_domains:SM00322,Superfamily_domains:SSF54791	high density lipoprotein binding protein				ENSP00000375836		24/28									COSM2150263,COSM3407754	24/28	.		ENST00000391975	Transcript			cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	ENSG00000115677	g.chr2:242173290A>G	4857			MODERATE		3.03	medium	getma.org/?cm=msa&ty=f&p=VIGLN_HUMAN&rb=1054&re=1117&var=I1078T	getma.org/pdb.php?prot=VIGLN_HUMAN&from=1054&to=1117&var=I1078T	getma.org/?cm=var&var=hg19,2,242173290,A,G&fts=all	I1078T	--	--	1																																		HDLBP_uc002wba.2_Missense_Mutation_p.I1078T|HDLBP_uc002wbb.2_Missense_Mutation_p.I1030T	1,1	1		probably_damaging(0.996)	p.I1078T	NM_203346	NP_976221		deleterious(0)	1,1	VIGLN_HUMAN	HDLBP	HGNC	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	Q96CF6_HUMAN,C9JZI8_HUMAN,C9JT62_HUMAN,C9JQ82_HUMAN,C9JMQ6_HUMAN,C9JKQ5_HUMAN,C9JIZ1_HUMAN,C9JHZ8_HUMAN,C9JHS7_HUMAN,C9JHN6_HUMAN,C9JES8_HUMAN,C9JEJ8_HUMAN,C9JBS3_HUMAN,C9J5E5_HUMAN		24	3461	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	UPI00001AEF85	1078			KH 13.		SNV	HDLBP,missense_variant,p.Ile1078Thr,ENST00000391975,NM_203346.3;HDLBP,missense_variant,p.Ile1078Thr,ENST00000310931,NM_005336.4;HDLBP,missense_variant,p.Ile1078Thr,ENST00000391976,;HDLBP,missense_variant,p.Ile1045Thr,ENST00000427183,NM_001243900.1;HDLBP,missense_variant,p.Ile887Thr,ENST00000373292,;AC104841.2,downstream_gene_variant,,ENST00000601871,;HDLBP,downstream_gene_variant,,ENST00000427487,;HDLBP,upstream_gene_variant,,ENST00000442730,;HDLBP,non_coding_transcript_exon_variant,,ENST00000470482,;HDLBP,upstream_gene_variant,,ENST00000484412,;HDLBP,downstream_gene_variant,,ENST00000483086,;HDLBP,non_coding_transcript_exon_variant,,ENST00000487169,;HDLBP,downstream_gene_variant,,ENST00000479169,;HDLBP,downstream_gene_variant,,ENST00000479894,;HDLBP,upstream_gene_variant,,ENST00000488013,;HDLBP,upstream_gene_variant,,ENST00000494862,;	uc002waz.2	c.3233T>C	3461/6372	4	4			c.3233T>C						2	SNP	c.(3232-3234)ATC>ACC	32	32			breast(3)|skin(1)	4	Broad	high density lipoprotein binding protein			242173290		0.498	ENSG00000115677	6898	g.chr2:242173290A>G	cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			532			532	94.868922	KEEP	25	12	-1	76	73	25	12	-1	109.909474	76	73	0.195402	1	0	0	0	0	1	0	0	0	--	--		0	G			HDLBP_uc002wba.2_Missense_Mutation_p.I1078T|HDLBP_uc002wbb.2_Missense_Mutation_p.I1030T	34	GBM-06-0169-TP	p.I1078T	A	CTCCAACCGGATTTGGGTAAT	NM_203346	NP_976221	242173290	Q00341	VIGLN_HUMAN	0		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	24	3461	-	G	G		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	Missense_Mutation	1078			KH 13.			
HDLBP	3069	broad.mit.edu	GRCh37	2	242202197	242202197	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-5413-01	TCGA-06-5413-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000391975.1:c.379A>G	p.Ile127Val	p.I127V	ENST00000391975	NM_203346.3	127	Atc/Gtc	0			1			C	I/V	uc002waz.2	protein_coding	YES	CCDS2547.1			379/3807									breast(3)|skin(1)	4	c.(379-381)ATC>GTC			hmmpanther:PTHR10627:SF34,hmmpanther:PTHR10627	high density lipoprotein binding protein				ENSP00000375836		28-May									COSM2153185,COSM3407755	28-May	.		ENST00000391975	Transcript			cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	ENSG00000115677	g.chr2:242202197T>C	4857			MODERATE		1.425	low	getma.org/?cm=msa&ty=f&p=VIGLN_HUMAN&rb=1&re=151&var=I127V	NA	getma.org/?cm=var&var=hg19,2,242202197,T,C&fts=all	I127V	--	--	1																																		HDLBP_uc002wba.2_Missense_Mutation_p.I127V|HDLBP_uc002wbb.2_Missense_Mutation_p.I148V|HDLBP_uc010fzn.1_Intron|uc010zoo.1_5'Flank	1,1	1		benign(0.07)	p.I127V	NM_203346	NP_976221		tolerated(0.45)	1,1	VIGLN_HUMAN	HDLBP	HGNC	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	Q96CF6_HUMAN,C9JZI8_HUMAN,C9JT62_HUMAN,C9JQ82_HUMAN,C9JMQ6_HUMAN,C9JKQ5_HUMAN,C9JIZ1_HUMAN,C9JHZ8_HUMAN,C9JHS7_HUMAN,C9JHN6_HUMAN,C9JES8_HUMAN,C9JEJ8_HUMAN,C9JBS3_HUMAN,C9J5E5_HUMAN		5	607	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	UPI00001AEF85	127					SNV	HDLBP,missense_variant,p.Ile127Val,ENST00000391975,NM_203346.3;HDLBP,missense_variant,p.Ile127Val,ENST00000310931,NM_005336.4;HDLBP,missense_variant,p.Ile127Val,ENST00000391976,;HDLBP,missense_variant,p.Ile163Val,ENST00000427183,NM_001243900.1;HDLBP,missense_variant,p.Ile5Val,ENST00000373292,;HDLBP,missense_variant,p.Ile127Val,ENST00000428482,;HDLBP,missense_variant,p.Ile28Val,ENST00000453141,;HDLBP,missense_variant,p.Ile127Val,ENST00000452065,;HDLBP,missense_variant,p.Ile127Val,ENST00000422933,;HDLBP,missense_variant,p.Ile127Val,ENST00000430918,;HDLBP,missense_variant,p.Ile127Val,ENST00000444092,;HDLBP,incomplete_terminal_codon_variant,p.=,ENST00000441124,;HDLBP,intron_variant,,ENST00000442714,;HDLBP,downstream_gene_variant,,ENST00000426343,;HDLBP,downstream_gene_variant,,ENST00000413241,;HDLBP,downstream_gene_variant,,ENST00000422080,;HDLBP,downstream_gene_variant,,ENST00000449504,;HDLBP,downstream_gene_variant,,ENST00000420451,;HDLBP,downstream_gene_variant,,ENST00000423693,;HDLBP,downstream_gene_variant,,ENST00000425989,;HDLBP,downstream_gene_variant,,ENST00000449864,;HDLBP,downstream_gene_variant,,ENST00000417540,;HDLBP,downstream_gene_variant,,ENST00000427007,;HDLBP,downstream_gene_variant,,ENST00000458564,;HDLBP,downstream_gene_variant,,ENST00000462130,;	uc002waz.2	c.379A>G	607/6372	4	4			c.379A>G						2	SNP	c.(379-381)ATC>GTC	38	38			breast(3)|skin(1)	4	Broad	high density lipoprotein binding protein			242202197		0.512	ENSG00000115677	6898	g.chr2:242202197T>C	cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			532			532	115.24927	KEEP	21	21	-1	31	41	21	21	-1	116.734329	31	41	0.37	1	0	0	0	0	1	0	0	0	--	--		0	C			HDLBP_uc002wba.2_Missense_Mutation_p.I127V|HDLBP_uc002wbb.2_Missense_Mutation_p.I148V|HDLBP_uc010fzn.1_Intron|uc010zoo.1_5'Flank	96	GBM-06-5413-TP	p.I127V	T	GACACCATGATGGAGAGGCCT	NM_203346	NP_976221	242202197	Q00341	VIGLN_HUMAN	0		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	5	607	-	C	C		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	Missense_Mutation	127						
HDX	139324	broad.mit.edu	GRCh37	X	83724095	83724095	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-06-5417-01	TCGA-06-5417-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297977.5:c.636del	p.Lys212AsnfsTer105	p.K212Nfs*105	ENST00000297977	NM_001177479.1	212	aaG/aa	0			1			-	K/X	uc004eek.1	protein_coding	YES	CCDS35342.1			636/2073									upper_aerodigestive_tract(1)|ovary(1)	2	c.(634-636)AAGfs			hmmpanther:PTHR11636:SF80,hmmpanther:PTHR11636	highly divergent homeobox				ENSP00000297977		10-Mar									COSM2153284	10-Mar	.		ENST00000297977	Transcript				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000165259	g.chrX:83724095delC	26411			HIGH								--	--	1																																		HDX_uc011mqv.1_Frame_Shift_Del_p.K212fs|HDX_uc004eel.1_Frame_Shift_Del_p.K154fs	1	1			p.K212fs	NM_144657	NP_653258			1	HDX_HUMAN	HDX	HGNC	Q7Z353	HDX_HUMAN			E2QRN0_HUMAN		3	745	-			UPI00001A9DA4	212					deletion	HDX,frameshift_variant,p.Lys212AsnfsTer105,ENST00000297977,NM_001177479.1,NM_144657.4;HDX,frameshift_variant,p.Lys154AsnfsTer105,ENST00000506585,NM_001177478.1;HDX,frameshift_variant,p.Lys212AsnfsTer105,ENST00000373177,;HDX,frameshift_variant,p.Lys154AsnfsTer?,ENST00000449553,;HDX,non_coding_transcript_exon_variant,,ENST00000472135,;	uc004eek.1	c.636delG	748/6200	5	5			c.636delG						23	DEL	c.(634-636)AAGfs	9	9			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	highly divergent homeobox			83724095		0.418	ENSG00000165259	6899	g.chrX:83724095delC		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	Pancreas(53;231 1169 36156 43751 51139)			Pancreas(53;231 1169 36156 43751 51139)																0.34	1	1	0	1	0	0	0	0	0	--	--		0	-			HDX_uc011mqv.1_Frame_Shift_Del_p.K212fs|HDX_uc004eel.1_Frame_Shift_Del_p.K154fs	99	GBM-06-5417-TP	p.K212fs	C	ACACAGAAGGCTTTTGAGGTA	NM_144657	NP_653258	83724095	Q7Z353	HDX_HUMAN	0			3	745	-	-	-			Frame_Shift_Del	212						
HEATR1	0	broad.mit.edu	GRCh37	1	236749663	236749663	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-4157-01	TCGA-14-4157-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366582.3:c.1805G>T	p.Cys602Phe	p.C602F	ENST00000366582	NM_018072.5	602	tGt/tTt	0			1			A	C/F	uc001hyd.1	protein_coding	YES	CCDS31066.1			1805/6435									ovary(2)|skin(1)	3	c.(1804-1806)TGT>TTT			hmmpanther:PTHR13457,hmmpanther:PTHR13457:SF1,Superfamily_domains:SSF48371	protein BAP28				ENSP00000355541		15/45									COSM3400485	15/45	.		ENST00000366582	Transcript			rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	ENSG00000119285	g.chr1:236749663C>A	25517			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=HEAT1_HUMAN&rb=568&re=767&var=C602F	NA	getma.org/?cm=var&var=hg19,1,236749663,C,A&fts=all	C602F	--	--	1																																			1	1		benign(0)	p.C602F	NM_018072	NP_060542		tolerated(0.17)	1	HEAT1_HUMAN	HEATR1	HGNC	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		Q6P664_HUMAN		15	1930	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	UPI000013D4D4	602					SNV	HEATR1,missense_variant,p.Cys602Phe,ENST00000366582,NM_018072.5;HEATR1,missense_variant,p.Cys602Phe,ENST00000366581,;	uc001hyd.1	c.1805G>T	1920/8447	1	1			c.1805G>T						1	SNP	c.(1804-1806)TGT>TTT	50	50			ovary(2)|skin(1)	3	Broad	protein BAP28			236749663		0.358	ENSG00000119285	6900	g.chr1:236749663C>A	rRNA processing	nucleolus|ribonucleoprotein complex	protein binding							-32.413701	KEEP	5	0	-1	88	76	5	0	-1	6.350144	88	76	0.02	1	0	0	0	0	1	0	0	0	--	--		0	A				152	GBM-14-4157-TP	p.C602F	C	TGGCAGCAAACATACAACCAC	NM_018072	NP_060542	236749663	Q9H583	HEAT1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		15	1930	-	A	A	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	Missense_Mutation	602						
HEATR3	55027	broad.mit.edu	GRCh37	16	50106625	50106625	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01	TCGA-06-2557-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299192.7:c.622G>A	p.Ala208Thr	p.A208T	ENST00000299192	NM_182922.2	208	Gca/Aca	0			1			A	A/T	uc002efw.2	protein_coding	YES	CCDS10739.1			622/2043									ovary(1)|skin(1)	2	c.(622-624)GCA>ACA			hmmpanther:PTHR13347:SF1,hmmpanther:PTHR13347,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	HEAT repeat containing 3				ENSP00000299192		15-May	8.24E-06		8.67E-05						rs756461740,COSM2152522	15-May	.		ENST00000299192	Transcript					binding	ENSG00000155393	g.chr16:50106625G>A	26087			MODERATE		2.455	medium	getma.org/?cm=msa&ty=f&p=HEAT3_HUMAN&rb=107&re=306&var=A208T	NA	getma.org/?cm=var&var=hg19,16,50106625,G,A&fts=all	A208T	--	--	1																																		HEATR3_uc002efx.2_Missense_Mutation_p.A122T	0,1	1		probably_damaging(0.949)	p.A208T	NM_182922	NP_891552		deleterious(0)	0,1	HEAT3_HUMAN	HEATR3	HGNC	Q7Z4Q2	HEAT3_HUMAN					5	784	+			UPI0000071B6C	208					SNV	HEATR3,missense_variant,p.Ala208Thr,ENST00000299192,NM_182922.2;HEATR3,missense_variant,p.Ala122Thr,ENST00000285767,;HEATR3,downstream_gene_variant,,ENST00000561819,;	uc002efw.2	c.622G>A	813/3560	2	2			c.622G>A						16	SNP	c.(622-624)GCA>ACA	43	43			ovary(1)|skin(1)	2	Broad	HEAT repeat containing 3			50106625		0.348	ENSG00000155393	6902	g.chr16:50106625G>A			binding							179.070491	KEEP	23	29	-1	12	18	23	29	-1	180.297065	12	18	0.632911	1	0	0	0	0	1	0	0	0	--	--		0	A			HEATR3_uc002efx.2_Missense_Mutation_p.A122T	81	GBM-06-2557-TP	p.A208T	G	TATTTCAGTAGGTAAGTGAAG	NM_182922	NP_891552	50106625	Q7Z4Q2	HEAT3_HUMAN	0			5	784	+	A	A			Missense_Mutation	208						
HEATR3	0	broad.mit.edu	GRCh37	16	50112858	50112858	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-4934-01	TCGA-76-4934-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299192.7:c.970G>C	p.Asp324His	p.D324H	ENST00000299192	NM_182922.2	324	Gat/Cat	0			1			C	D/H	uc002efw.2	protein_coding	YES	CCDS10739.1			970/2043									ovary(1)|skin(1)	2	c.(970-972)GAT>CAT			hmmpanther:PTHR13347:SF1,hmmpanther:PTHR13347	HEAT repeat containing 3				ENSP00000299192		15-Jul									COSM3402343	15-Jul	.		ENST00000299192	Transcript					binding	ENSG00000155393	g.chr16:50112858G>C	26087			MODERATE		2.075	medium	getma.org/?cm=msa&ty=f&p=HEAT3_HUMAN&rb=307&re=506&var=D324H	NA	getma.org/?cm=var&var=hg19,16,50112858,G,C&fts=all	D324H	--	--	1																																		HEATR3_uc002efx.2_Missense_Mutation_p.D238H	1	1		possibly_damaging(0.778)	p.D324H	NM_182922	NP_891552		deleterious(0.01)	1	HEAT3_HUMAN	HEATR3	HGNC	Q7Z4Q2	HEAT3_HUMAN					7	1132	+			UPI0000071B6C	324					SNV	HEATR3,missense_variant,p.Asp324His,ENST00000299192,NM_182922.2;HEATR3,missense_variant,p.Asp238His,ENST00000285767,;HEATR3,upstream_gene_variant,,ENST00000564942,;HEATR3,non_coding_transcript_exon_variant,,ENST00000561525,;	uc002efw.2	c.970G>C	1161/3560	3	3			c.970G>C						16	SNP	c.(970-972)GAT>CAT	55	55			ovary(1)|skin(1)	2	Broad	HEAT repeat containing 3			50112858		0.368	ENSG00000155393	6902	g.chr16:50112858G>C			binding							297.295013	KEEP	49	36	-1	50	46	49	36	-1	297.328007	50	46	0.484848	1	0	0	0	0	1	0	0	0	--	--		0	C			HEATR3_uc002efx.2_Missense_Mutation_p.D238H	272	GBM-76-4934-TP	p.D324H	G	TTTGATTGAAGATGATGAAAT	NM_182922	NP_891552	50112858	Q7Z4Q2	HEAT3_HUMAN	0			7	1132	+	C	C			Missense_Mutation	324						
HEATR4	399671	broad.mit.edu	GRCh37	14	73974950	73974950	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01	TCGA-06-2567-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000553558.1:c.1769G>A	p.Gly590Asp	p.G590D	ENST00000553558	NM_001220484.1	590	gGt/gAt	0			1			T	G/D	uc010tub.1	protein_coding		CCDS9815.2			1769/3081									ovary(1)	1	c.(1768-1770)GGT>GAT			hmmpanther:PTHR12697,hmmpanther:PTHR12697:SF14,Superfamily_domains:SSF48371	HEAT repeat containing 4				ENSP00000335447		17-Aug									COSM2153051,COSM2153050	17-Aug	.		ENST00000334988	Transcript						ENSG00000187105	g.chr14:73974950C>T	16761			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=HEAT4_HUMAN&rb=513&re=712&var=G590D	NA	getma.org/?cm=var&var=hg19,14,73974950,C,T&fts=all	G590D	--	--	1																																		HEATR4_uc010tua.1_Missense_Mutation_p.G543D	1,1			probably_damaging(1)	p.G590D	NM_203309	NP_976054		deleterious(0)	1,1	HEAT4_HUMAN	HEATR4	HGNC				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)	H3BSP2_HUMAN,G3V5L2_HUMAN,G3V3Q5_HUMAN		9	2091	-			UPI00001FD7FD						SNV	HEATR4,missense_variant,p.Gly590Asp,ENST00000553558,NM_001220484.1;HEATR4,missense_variant,p.Gly590Asp,ENST00000334988,NM_203309.2;HEATR4,missense_variant,p.Gly543Asp,ENST00000560393,;	uc010tub.1	c.1769G>A	2038/3469	2	2			c.1769G>A						14	SNP	c.(1768-1770)GGT>GAT	18	18			ovary(1)	1	Broad	HEAT repeat containing 4			73974950		0.478	ENSG00000187105	6903	g.chr14:73974950C>T										116.871459	KEEP	28	22	-1	52	66	28	22	-1	123.096185	52	66	0.288462	1	0	0	0	0	1	0	0	0	--	--		0	T			HEATR4_uc010tua.1_Missense_Mutation_p.G543D	89	GBM-06-2567-TP	p.G590D	C	AGTAGCAGTACCTTCCAGAGC	NM_203309	NP_976054	73974950			0		BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)	9	2091	-	T	T			Missense_Mutation							
HEATR4	0	broad.mit.edu	GRCh37	14	73989140	73989140	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-26-5133-01	TCGA-26-5133-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334988.2:c.717G>T	p.Gln239His	p.Q239H	ENST00000334988	NM_203309.2	239	caG/caT	0			1			A	Q/H	uc010tub.1	protein_coding		CCDS9815.2			717/3081									ovary(1)	1	c.(715-717)CAG>CAT			hmmpanther:PTHR12697,hmmpanther:PTHR12697:SF14	HEAT repeat containing 4				ENSP00000335447		17-Feb									COSM3401456,COSM3401455	17-Feb	.		ENST00000334988	Transcript						ENSG00000187105	g.chr14:73989140C>A	16761			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=HEAT4_HUMAN&rb=201&re=400&var=Q239H	NA	getma.org/?cm=var&var=hg19,14,73989140,C,A&fts=all	Q239H	--	--	1																																		HEATR4_uc010tua.1_Missense_Mutation_p.Q192H	1,1			benign(0.022)	p.Q239H	NM_203309	NP_976054		tolerated(0.21)	1,1	HEAT4_HUMAN	HEATR4	HGNC				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)	H3BSP2_HUMAN,G3V5L2_HUMAN,G3V3Q5_HUMAN		3	1039	-			UPI00001FD7FD						SNV	HEATR4,missense_variant,p.Gln239His,ENST00000553558,NM_001220484.1;HEATR4,missense_variant,p.Gln239His,ENST00000334988,NM_203309.2;HEATR4,missense_variant,p.Gln192His,ENST00000560393,;HEATR4,downstream_gene_variant,,ENST00000556455,;HEATR4,downstream_gene_variant,,ENST00000563329,;HEATR4,downstream_gene_variant,,ENST00000557603,;RP3-414A15.11,upstream_gene_variant,,ENST00000553394,;RP3-414A15.2,upstream_gene_variant,,ENST00000555972,;	uc010tub.1	c.717G>T	986/3469	1	1			c.717G>T						14	SNP	c.(715-717)CAG>CAT	54	54			ovary(1)	1	Broad	HEAT repeat containing 4			73989140		0.582	ENSG00000187105	6903	g.chr14:73989140C>A										4.03327	KEEP	7	3	0.3	37	43	7	3	0.3	17.593428	37	43	0.096386	1	0	0	0	0	1	0	0	0	--	--		0	A			HEATR4_uc010tua.1_Missense_Mutation_p.Q192H	182	GBM-26-5133-TP	p.Q239H	C	AGTCGTACTGCTGGCGCAGGA	NM_203309	NP_976054	73989140			0		BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)	3	1039	-	A	A			Missense_Mutation							
HEATR5A	0	broad.mit.edu	GRCh37	14	31852888	31852888	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01	TCGA-12-3652-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389961.3:c.1417G>A	p.Ala473Thr	p.A473T	ENST00000389961		473	Gca/Aca	0			1			T	A/T	uc001wrf.3	protein_coding					1435/6141									ovary(1)	1	c.(556-558)GCA>ACA			hmmpanther:PTHR21663:SF1,hmmpanther:PTHR21663,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	HEAT repeat containing 5A				ENSP00000437968		Oct-36									COSM3401291,COSM3401292,COSM3401293	Oct-36	.		ENST00000543095	Transcript					binding	ENSG00000129493	g.chr14:31852888C>T	20276			MODERATE		2.405	medium	getma.org/?cm=msa&ty=f&p=HTR5A_HUMAN&rb=401&re=600&var=A473T	NA	getma.org/?cm=var&var=hg19,14,31852888,C,T&fts=all	A473T	--	--	1																																		HEATR5A_uc010ami.2_Missense_Mutation_p.A84T|HEATR5A_uc001wrg.1_Missense_Mutation_p.A68T|HEATR5A_uc010tpk.1_Missense_Mutation_p.A479T	1,1,1	1		possibly_damaging(0.901)	p.A186T	NM_015473	NP_056288		deleterious(0)	1,1,1		HEATR5A	HGNC	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	F8VQQ6_HUMAN,F5H619_HUMAN,E9PB09_HUMAN		4	633	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		UPI0001890E04	473					SNV	HEATR5A,missense_variant,p.Ala479Thr,ENST00000543095,NM_015473.3;HEATR5A,missense_variant,p.Ala473Thr,ENST00000389961,;HEATR5A,missense_variant,p.Ala473Thr,ENST00000439348,;HEATR5A,missense_variant,p.Ala186Thr,ENST00000439727,;HEATR5A,missense_variant,p.Ala107Thr,ENST00000538864,;HEATR5A,missense_variant,p.Ala479Thr,ENST00000404677,;HEATR5A,missense_variant,p.Ala122Thr,ENST00000550366,;RP11-176H8.1,3_prime_UTR_variant,,ENST00000549185,;	uc001wrf.3	c.556G>A	1620/7840	1	1			c.556G>A						14	SNP	c.(556-558)GCA>ACA	8	8			ovary(1)	1	Broad	HEAT repeat containing 5A			31852888		0.468	ENSG00000129493	6904	g.chr14:31852888C>T			binding							-40.860845	KEEP	3	3	-1	86	112	3	3	-1	7.021881	86	112	0.02139	1	0	0	0	0	1	0	0	0	--	--		0	T			HEATR5A_uc010ami.2_Missense_Mutation_p.A84T|HEATR5A_uc001wrg.1_Missense_Mutation_p.A68T|HEATR5A_uc010tpk.1_Missense_Mutation_p.A479T	127	GBM-12-3652-TP	p.A186T	C	GAGGGTAATGCCACGGCAATG	NM_015473	NP_056288	31852888	Q86XA9	HTR5A_HUMAN	0	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	4	633	-	T	T	Hepatocellular(127;0.0877)|Breast(36;0.137)		Missense_Mutation	473						
HEATR5A	0	broad.mit.edu	GRCh37	14	31852819	31852835	+	frameshift_variant	Frame_Shift_Del	DEL	GTGAAGACTTATGTCCA	GTGAAGACTTATGTCCA	-			TCGA-16-0861-01	TCGA-16-0861-01	GTGAAGACTTATGTCCA	GTGAAGACTTATGTCCA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389961.3:c.1470_1486delTGGACATAAGTCTTCAC	p.Gly491Ter	p.G491*	ENST00000389961		490	acTGGACATAAGTCTTCACct/acct	0			1			-	TGHKSSP/TX	uc001wrf.3	protein_coding					1488-1504/6141									ovary(1)	1	c.(607-627)ACTGGACATAAGTCTTCACCTfs			hmmpanther:PTHR21663:SF1,hmmpanther:PTHR21663,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	HEAT repeat containing 5A				ENSP00000437968		Oct-36										Oct-36	.		ENST00000543095	Transcript					binding	ENSG00000129493	g.chr14:31852819_31852835delGTGAAGACTTATGTCCA	20276			HIGH								--	--	1																																		HEATR5A_uc010ami.2_Frame_Shift_Del_p.T101fs|HEATR5A_uc001wrg.1_Frame_Shift_Del_p.T85fs|HEATR5A_uc010tpk.1_Frame_Shift_Del_p.T496fs		1			p.T203fs	NM_015473	NP_056288					HEATR5A	HGNC	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	F8VQQ6_HUMAN,F5H619_HUMAN,E9PB09_HUMAN		4	686_702	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		UPI0001890E04	490_496					deletion	HEATR5A,frameshift_variant,p.Gly497Ter,ENST00000543095,NM_015473.3;HEATR5A,frameshift_variant,p.Gly491Ter,ENST00000389961,;HEATR5A,frameshift_variant,p.Gly491Ter,ENST00000439348,;HEATR5A,frameshift_variant,p.Gly204Ter,ENST00000439727,;HEATR5A,frameshift_variant,p.Gly125Ter,ENST00000538864,;HEATR5A,frameshift_variant,p.Gly497Ter,ENST00000404677,;HEATR5A,frameshift_variant,p.Gly140Ter,ENST00000550366,;RP11-176H8.1,3_prime_UTR_variant,,ENST00000549185,;	uc001wrf.3	c.609_625delTGGACATAAGTCTTCAC	1673-1689/7840	5	5			c.609_625delTGGACATAAGTCTTCAC						14	DEL	c.(607-627)ACTGGACATAAGTCTTCACCTfs	14	14			ovary(1)	1	Broad	HEAT repeat containing 5A			31852835		0.461	ENSG00000129493	6904	g.chr14:31852819_31852835delGTGAAGACTTATGTCCA			binding																				0.49	1	1	0	1	0	0	0	0	0	--	--		0	-			HEATR5A_uc010ami.2_Frame_Shift_Del_p.T101fs|HEATR5A_uc001wrg.1_Frame_Shift_Del_p.T85fs|HEATR5A_uc010tpk.1_Frame_Shift_Del_p.T496fs	156	GBM-16-0861-TP	p.T203fs	GTGAAGACTTATGTCCA	ACTGCTTCAGGTGAAGACTTATGTCCAGTAAGCCGTT	NM_015473	NP_056288	31852819	Q86XA9	HTR5A_HUMAN	0	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	4	686_702	-	-	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		Frame_Shift_Del	490_496						
HEATR5A	0	broad.mit.edu	GRCh37	14	31816973	31816973	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01	TCGA-28-5216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389961.3:c.2831G>A	p.Ser944Asn	p.S944N	ENST00000389961		944	aGc/aAc	0		T:0	1	T:0		T	S/N	uc001wrf.3	protein_coding					2849/6141									ovary(1)	1	c.(1969-1971)AGC>AAC			hmmpanther:PTHR21663:SF1,hmmpanther:PTHR21663,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	HEAT repeat containing 5A		T:0		ENSP00000437968	T:0	19/36	2.48E-05							0.000146	rs569072683,COSM3401288,COSM3401289,COSM3401290	19/36	.		ENST00000543095	Transcript		T:0.0002			binding	ENSG00000129493	g.chr14:31816973C>T	20276			MODERATE		0.64	neutral	getma.org/?cm=msa&ty=f&p=HTR5A_HUMAN&rb=801&re=1000&var=S944N	NA	getma.org/?cm=var&var=hg19,14,31816973,C,T&fts=all	S944N	--	--	1																																		HEATR5A_uc010ami.2_Missense_Mutation_p.S555N|HEATR5A_uc001wrg.1_Missense_Mutation_p.S539N|HEATR5A_uc010tpk.1_Missense_Mutation_p.S950N	0,1,1,1	1		benign(0.003)	p.S657N	NM_015473	NP_056288	T:0.001	tolerated(0.26)	0,1,1,1		HEATR5A	HGNC	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	F8VQQ6_HUMAN,F5H619_HUMAN,E9PB09_HUMAN		13	2047	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		UPI0001890E04	944					SNV	HEATR5A,missense_variant,p.Ser950Asn,ENST00000543095,NM_015473.3;HEATR5A,missense_variant,p.Ser944Asn,ENST00000389961,;HEATR5A,missense_variant,p.Ser944Asn,ENST00000439348,;HEATR5A,missense_variant,p.Ser657Asn,ENST00000439727,;HEATR5A,missense_variant,p.Ser578Asn,ENST00000538864,;HEATR5A,missense_variant,p.Ser950Asn,ENST00000404677,;HEATR5A,missense_variant,p.Ser593Asn,ENST00000550366,;HEATR5A,upstream_gene_variant,,ENST00000549719,;RP11-176H8.1,3_prime_UTR_variant,,ENST00000549185,;	uc001wrf.3	c.1970G>A	3034/7840	2	2			c.1970G>A						14	SNP	c.(1969-1971)AGC>AAC	33	33			ovary(1)	1	Broad	HEAT repeat containing 5A			31816973		0.383	ENSG00000129493	6904	g.chr14:31816973C>T			binding							41.478518	KEEP	8	8	-1	2	6	8	8	-1	41.739516	2	6	0.619048	1	0	0	0	0	1	0	0	0	--	--		0	T			HEATR5A_uc010ami.2_Missense_Mutation_p.S555N|HEATR5A_uc001wrg.1_Missense_Mutation_p.S539N|HEATR5A_uc010tpk.1_Missense_Mutation_p.S950N	223	GBM-28-5216-TP	p.S657N	C	AGGAGAAGTGCTGTCCTGCGC	NM_015473	NP_056288	31816973	Q86XA9	HTR5A_HUMAN	0	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	13	2047	-	T	T	Hepatocellular(127;0.0877)|Breast(36;0.137)		Missense_Mutation	944						
HEATR5B	0	broad.mit.edu	GRCh37	2	37215846	37215846	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01	TCGA-14-1450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000233099.5:c.5854G>A	p.Val1952Ile	p.V1952I	ENST00000233099	NM_019024.1	1952	Gtt/Att	0			1			T	V/I	uc002rpp.1	protein_coding	YES	CCDS33181.1			5854/6216									ovary(5)|skin(2)|breast(1)	8	c.(5854-5856)GTT>ATT			Gene3D:1.25.10.10,hmmpanther:PTHR21663,hmmpanther:PTHR21663:SF2	HEAT repeat containing 5B				ENSP00000233099		35/36									COSM3407848	35/36	.		ENST00000233099	Transcript					binding	ENSG00000008869	g.chr2:37215846C>T	29273			MODERATE		1.265	low	getma.org/?cm=msa&ty=f&p=HTR5B_HUMAN&rb=1801&re=2000&var=V1952I	NA	getma.org/?cm=var&var=hg19,2,37215846,C,T&fts=all	V1952I	--	--	1																																		HEATR5B_uc002rpo.1_Missense_Mutation_p.V264I|HEATR5B_uc010ezy.1_Missense_Mutation_p.V447I	1	1		benign(0.012)	p.V1952I	NM_019024	NP_061897		tolerated(0.47)	1	HTR5B_HUMAN	HEATR5B	HGNC	Q9P2D3	HTR5B_HUMAN					35	5950	-		all_hematologic(82;0.21)	UPI0000160DCD	1952					SNV	HEATR5B,missense_variant,p.Val1952Ile,ENST00000233099,NM_019024.1;HEATR5B,missense_variant,p.Val1863Ile,ENST00000354531,;HEATR5B,missense_variant,p.Val53Ile,ENST00000425467,;	uc002rpp.1	c.5854G>A	5950/6905	2	2			c.5854G>A						2	SNP	c.(5854-5856)GTT>ATT	24	24			ovary(5)|skin(2)|breast(1)	8	Broad	HEAT repeat containing 5B			37215846		0.348	ENSG00000008869	6905	g.chr2:37215846C>T			binding							49.704122	KEEP	15	9	-1	30	29	15	9	-1	52.533198	30	29	0.291667	1	0	0	0	0	1	0	0	0	--	--		0	T			HEATR5B_uc002rpo.1_Missense_Mutation_p.V264I|HEATR5B_uc010ezy.1_Missense_Mutation_p.V447I	145	GBM-14-1450-TP	p.V1952I	C	CCTTCTTGAACCGCTAAAAGC	NM_019024	NP_061897	37215846	Q9P2D3	HTR5B_HUMAN	0			35	5950	-	T	T		all_hematologic(82;0.21)	Missense_Mutation	1952						
HEATR6	0	broad.mit.edu	GRCh37	17	58137429	58137429	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-27-1838-01	TCGA-27-1838-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000184956.6:c.1445C>G	p.Ser482Cys	p.S482C	ENST00000184956	NM_022070.4	482	tCt/tGt	0			1			C	S/C	uc002iyk.1	protein_coding	YES	CCDS11623.1			1445/3546									ovary(1)|skin(1)	2	c.(1444-1446)TCT>TGT			hmmpanther:PTHR13366,Gene3D:1.25.10.10,Pfam_domain:PF13251,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371	HEAT repeat containing 6				ENSP00000184956		20-Oct									COSM3403072	20-Oct	.		ENST00000184956	Transcript					binding	ENSG00000068097	g.chr17:58137429G>C	24076			MODERATE		2.005	medium	getma.org/?cm=msa&ty=f&p=HEAT6_HUMAN&rb=418&re=599&var=S482C	NA	getma.org/?cm=var&var=hg19,17,58137429,G,C&fts=all	S482C	--	--	1																																		HEATR6_uc010ddk.1_Missense_Mutation_p.S21C|HEATR6_uc010wos.1_Missense_Mutation_p.S314C	1	1		probably_damaging(0.986)	p.S482C	NM_022070	NP_071353		deleterious(0.02)	1	HEAT6_HUMAN	HEATR6	HGNC	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		K7ELR8_HUMAN		10	1462	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		UPI0000366C37	482			HEAT 2.		SNV	HEATR6,missense_variant,p.Ser482Cys,ENST00000184956,NM_022070.4;HEATR6,missense_variant,p.Ser482Cys,ENST00000585976,;HEATR6,3_prime_UTR_variant,,ENST00000587003,;HEATR6,upstream_gene_variant,,ENST00000591683,;RP11-178C3.6,downstream_gene_variant,,ENST00000585345,;	uc002iyk.1	c.1445C>G	1462/3932	4	4			c.1445C>G						17	SNP	c.(1444-1446)TCT>TGT	46	46			ovary(1)|skin(1)	2	Broad	HEAT repeat containing 6			58137429		0.433	ENSG00000068097	6906	g.chr17:58137429G>C			binding							289.747959	KEEP	37	55	-1	63	61	37	55	-1	291.033699	63	61	0.413265	1	0	0	0	0	1	0	0	0	--	--		0	C			HEATR6_uc010ddk.1_Missense_Mutation_p.S21C|HEATR6_uc010wos.1_Missense_Mutation_p.S314C	197	GBM-27-1838-TP	p.S482C	G	CAAGATGGCAGATAAAACTTG	NM_022070	NP_071353	58137429	Q6AI08	HEAT6_HUMAN	0	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		10	1462	-	C	C	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Missense_Mutation	482			HEAT 2.			
HECA	51696	broad.mit.edu	GRCh37	6	139487771	139487771	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01	TCGA-02-2485-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367658.2:c.622G>A	p.Glu208Lys	p.E208K	ENST00000367658	NM_016217.2	208	Gag/Aag	0			1			A	E/K	uc003qin.2	protein_coding	YES	CCDS5194.1			622/1632										0	c.(622-624)GAG>AAG			hmmpanther:PTHR13425	headcase				ENSP00000356630		4-Feb									COSM3410628	4-Feb	.		ENST00000367658	Transcript			respiratory tube development			ENSG00000112406	g.chr6:139487771G>A	21041			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=HDC_HUMAN&rb=201&re=400&var=E208K	NA	getma.org/?cm=var&var=hg19,6,139487771,G,A&fts=all	E208K	--	--	1																																			1	1		probably_damaging(0.992)	p.E208K	NM_016217	NP_057301		tolerated(0.23)	1	HDC_HUMAN	HECA	HGNC	Q9UBI9	HDC_HUMAN		GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)			2	907	+			UPI000006D0F2	208					SNV	HECA,missense_variant,p.Glu208Lys,ENST00000367658,NM_016217.2;RP1-225E12.2,intron_variant,,ENST00000588529,;RP1-225E12.2,intron_variant,,ENST00000587577,;RP1-225E12.2,intron_variant,,ENST00000589192,;RP1-225E12.2,intron_variant,,ENST00000588638,;RP1-225E12.2,intron_variant,,ENST00000590679,;RP1-225E12.2,intron_variant,,ENST00000586229,;RP1-225E12.2,intron_variant,,ENST00000586266,;RP1-225E12.2,intron_variant,,ENST00000415194,;RP1-225E12.2,downstream_gene_variant,,ENST00000585447,;RP1-225E12.2,downstream_gene_variant,,ENST00000591102,;RP1-225E12.3,intron_variant,,ENST00000585874,;	uc003qin.2	c.622G>A	907/5614	2	2			c.622G>A						6	SNP	c.(622-624)GAG>AAG	32	32				0	Broad	headcase			139487771		0.592	ENSG00000112406	6910	g.chr6:139487771G>A	respiratory tube development									121.21539	KEEP	22	19	-1	22	28	22	19	-1	121.377005	22	28	0.453488	1	0	0	0	0	1	0	0	0	--	--		0	A				7	GBM-02-2485-TP	p.E208K	G	GTCTGGCTCCGAGAAGAACAC	NM_016217	NP_057301	139487771	Q9UBI9	HDC_HUMAN	0		GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)	2	907	+	A	A			Missense_Mutation	208						
HECA	51696	broad.mit.edu	GRCh37	6	139488187	139488187	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0939-01	TCGA-06-0939-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367658.2:c.1038G>A	p.Arg346=	p.R346=	ENST00000367658	NM_016217.2	346	cgG/cgA	0			1			A	R	uc003qin.2	protein_coding	YES	CCDS5194.1			1038/1632										0	c.(1036-1038)CGG>CGA			hmmpanther:PTHR13425	headcase				ENSP00000356630		4-Feb									COSM3410629	4-Feb	.		ENST00000367658	Transcript			respiratory tube development			ENSG00000112406	g.chr6:139488187G>A	21041			LOW								--	--	1																																			1	1			p.R346R	NM_016217	NP_057301			1	HDC_HUMAN	HECA	HGNC	Q9UBI9	HDC_HUMAN		GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)			2	1323	+			UPI000006D0F2	346					SNV	HECA,synonymous_variant,p.=,ENST00000367658,NM_016217.2;RP1-225E12.2,intron_variant,,ENST00000588529,;RP1-225E12.2,intron_variant,,ENST00000587577,;RP1-225E12.2,intron_variant,,ENST00000589192,;RP1-225E12.2,intron_variant,,ENST00000588638,;RP1-225E12.2,intron_variant,,ENST00000590679,;RP1-225E12.2,intron_variant,,ENST00000586229,;RP1-225E12.2,intron_variant,,ENST00000586266,;RP1-225E12.2,intron_variant,,ENST00000415194,;RP1-225E12.2,downstream_gene_variant,,ENST00000585447,;RP1-225E12.2,downstream_gene_variant,,ENST00000591102,;RP1-225E12.3,intron_variant,,ENST00000585874,;	uc003qin.2	c.1038G>A	1323/5614	1	1			c.1038G>A						6	SNP	c.(1036-1038)CGG>CGA	61	61				0	Broad	headcase			139488187		0.597	ENSG00000112406	6910	g.chr6:139488187G>A	respiratory tube development									-18.898806	KEEP	3	2	-1	80	58	3	2	-1	6.757686	80	58	0.036364	1	0	0	0	0	0	0	1	0	--	--		0	A				78	GBM-06-0939-TP	p.R346R	G	TCCTTCGGCGGCTGGACCTCT	NM_016217	NP_057301	139488187	Q9UBI9	HDC_HUMAN	0		GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)	2	1323	+	A	A			Silent	346						
HECTD1	25831	broad.mit.edu	GRCh37	14	31582555	31582555	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0174-01	TCGA-06-0174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399332.1:c.5992del	p.Glu1998LysfsTer12	p.E1998Kfs*12	ENST00000399332	NM_015382.2	1998	Gaa/aa	0			1			-	E/X	uc001wrc.1	protein_coding	YES	CCDS41939.1			5992/7833									ovary(3)|large_intestine(1)|lung(1)	5	c.(5992-5994)GAAfs			hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF75	HECT domain containing 1				ENSP00000382269		33/43										33/43	.		ENST00000399332	Transcript			protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	ENSG00000092148	g.chr14:31582555delC	20157			HIGH								--	--	1																																		HECTD1_uc001wra.1_Frame_Shift_Del_p.E124fs|HECTD1_uc001wrb.1_Frame_Shift_Del_p.E124fs|HECTD1_uc001wrd.1_Frame_Shift_Del_p.E1466fs		1			p.E1998fs	NM_015382	NP_056197				HECD1_HUMAN	HECTD1	HGNC	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	G3V4V5_HUMAN		33	6481	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		UPI0000E8AC98	1998					deletion	HECTD1,frameshift_variant,p.Glu1998LysfsTer12,ENST00000399332,NM_015382.2;HECTD1,frameshift_variant,p.Glu1998LysfsTer12,ENST00000553700,;HECTD1,frameshift_variant,p.Glu1425LysfsTer12,ENST00000553957,;HECTD1,frameshift_variant,p.Glu364LysfsTer12,ENST00000554882,;HECTD1,non_coding_transcript_exon_variant,,ENST00000555843,;HECTD1,downstream_gene_variant,,ENST00000557321,;HECTD1,downstream_gene_variant,,ENST00000554027,;HECTD1,upstream_gene_variant,,ENST00000555311,;RPL21P5,upstream_gene_variant,,ENST00000554662,;	uc001wrc.1	c.5992delG	6481/9134	5	5			c.5992delG						14	DEL	c.(5992-5994)GAAfs	9	9			ovary(3)|large_intestine(1)|lung(1)	5	Broad	HECT domain containing 1			31582555		0.403	ENSG00000092148	6911	g.chr14:31582555delC	protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity																				0.46	1	1	0	1	0	0	0	0	0	--	--		0	-			HECTD1_uc001wra.1_Frame_Shift_Del_p.E124fs|HECTD1_uc001wrb.1_Frame_Shift_Del_p.E124fs|HECTD1_uc001wrd.1_Frame_Shift_Del_p.E1466fs	37	GBM-06-0174-TP	p.E1998fs	C	AGGACATCTTCTACTCCACAA	NM_015382	NP_056197	31582555	Q9ULT8	HECD1_HUMAN	0	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	33	6481	-	-	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		Frame_Shift_Del	1998						
HECTD1	0	broad.mit.edu	GRCh37	14	31675061	31675061	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01	TCGA-41-3393-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399332.1:c.82C>T	p.Leu28Phe	p.L28F	ENST00000399332	NM_015382.2	28	Ctt/Ttt	0			1			A	L/F	uc001wrc.1	protein_coding	YES	CCDS41939.1			82/7833									ovary(3)|large_intestine(1)|lung(1)	5	c.(82-84)CTT>TTT			Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF75	HECT domain containing 1				ENSP00000382269		Feb-43									COSM3401287	Feb-43	.		ENST00000399332	Transcript			protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	ENSG00000092148	g.chr14:31675061G>A	20157			MODERATE		2.745	medium	getma.org/?cm=msa&ty=f&p=HECD1_HUMAN&rb=1&re=338&var=L28F	NA	getma.org/?cm=var&var=hg19,14,31675061,G,A&fts=all	L28F	--	--	1																																		HECTD1_uc001wre.2_RNA	1	1		probably_damaging(0.998)	p.L28F	NM_015382	NP_056197		deleterious(0)	1	HECD1_HUMAN	HECTD1	HGNC	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	G3V4V5_HUMAN		2	571	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		UPI0000E8AC98	28					SNV	HECTD1,missense_variant,p.Leu28Phe,ENST00000399332,NM_015382.2;HECTD1,missense_variant,p.Leu28Phe,ENST00000553700,;HECTD1,missense_variant,p.Leu28Phe,ENST00000556224,;HECTD1,non_coding_transcript_exon_variant,,ENST00000556474,;HECTD1,non_coding_transcript_exon_variant,,ENST00000553616,;	uc001wrc.1	c.82C>T	571/9134	2	2			c.82C>T						14	SNP	c.(82-84)CTT>TTT	22	22			ovary(3)|large_intestine(1)|lung(1)	5	Broad	HECT domain containing 1			31675061		0.428	ENSG00000092148	6911	g.chr14:31675061G>A	protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity							68.522891	KEEP	14	14	-1	47	37	14	14	-1	74.738925	47	37	0.242718	1	0	0	0	0	1	0	0	0	--	--		0	A			HECTD1_uc001wre.2_RNA	255	GBM-41-3393-TP	p.L28F	G	AGCTGTTCAAGGGCTATTAGT	NM_015382	NP_056197	31675061	Q9ULT8	HECD1_HUMAN	0	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	2	571	-	A	A	Hepatocellular(127;0.0877)|Breast(36;0.176)		Missense_Mutation	28						
HECTD2	0	broad.mit.edu	GRCh37	10	93244394	93244394	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-4208-01	TCGA-32-4208-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298068.5:c.952A>G	p.Lys318Glu	p.K318E	ENST00000298068	NM_182765.3	318	Aaa/Gaa	0			1			G	K/E	uc001khl.2	protein_coding	YES	CCDS7414.1			952/2331									skin(1)	1	c.(952-954)AAA>GAA			Low_complexity_(Seg):seg,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF69	HECT domain containing 2 isoform a				ENSP00000298068		21-Sep									COSM3397301	21-Sep	.		ENST00000298068	Transcript			protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	ENSG00000165338	g.chr10:93244394A>G	26736			MODERATE		2.425	medium	getma.org/?cm=msa&ty=f&p=HECD2_HUMAN&rb=201&re=400&var=K318E	NA	getma.org/?cm=var&var=hg19,10,93244394,A,G&fts=all	K318E	--	--	1																																		LOC100188947_uc010qnl.1_Intron|HECTD2_uc010qnm.1_Missense_Mutation_p.K322E|HECTD2_uc001khm.2_RNA|HECTD2_uc009xty.1_5'UTR|HECTD2_uc001khn.1_5'UTR	1	1		probably_damaging(0.983)	p.K318E	NM_182765	NP_877497		deleterious(0)	1	HECD2_HUMAN	HECTD2	HGNC	Q5U5R9	HECD2_HUMAN			B3KV18_HUMAN		9	1052	+			UPI0000246D14	318					SNV	HECTD2,missense_variant,p.Lys322Glu,ENST00000446394,NM_001284274.1;HECTD2,missense_variant,p.Lys318Glu,ENST00000298068,NM_182765.3;HECTD2,5_prime_UTR_variant,,ENST00000371667,;HECTD2,5_prime_UTR_variant,,ENST00000536715,;HECTD2,non_coding_transcript_exon_variant,,ENST00000498446,;	uc001khl.2	c.952A>G	1046/4802	3	3			c.952A>G						10	SNP	c.(952-954)AAA>GAA	58	58			skin(1)	1	Broad	HECT domain containing 2 isoform a			93244394		0.333	ENSG00000165338	6912	g.chr10:93244394A>G	protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	NSCLC(12;376 469 1699 39910 41417)			NSCLC(12;376 469 1699 39910 41417)			-8.233875	KEEP	2	1	-1	47	60	2	1	-1	7.174077	47	60	0.043478	1	0	0	0	0	1	0	0	0	--	--		0	G			LOC100188947_uc010qnl.1_Intron|HECTD2_uc010qnm.1_Missense_Mutation_p.K322E|HECTD2_uc001khm.2_RNA|HECTD2_uc009xty.1_5'UTR|HECTD2_uc001khn.1_5'UTR	243	GBM-32-4208-TP	p.K318E	A	ATCAGCCGCTAAAGTGTTGGC	NM_182765	NP_877497	93244394	Q5U5R9	HECD2_HUMAN	0			9	1052	+	G	G			Missense_Mutation	318						
HECTD4	283450	broad.mit.edu	GRCh37	12	112703783	112703783	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0878-01	TCGA-06-0878-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000550722.1:c.1965G>A	p.Glu655=	p.E655=	ENST00000550722	NM_001109662.3	655	gaG/gaA	0			1			T	E	uc009zwc.2	protein_coding	YES				1965/12819									ovary(1)|lung(1)	2	c.(1099-1101)GAG>GAA				chromosome 12 open reading frame 51				ENSP00000449784		15/76									COSM3398362,COSM3398363	15/76	.		ENST00000550722	Transcript						ENSG00000173064	g.chr12:112703783C>T	26611			LOW								--	--	1																																		C12orf51_uc010syk.1_Silent_p.E190E|C12orf51_uc001tts.2_Silent_p.E190E|C12orf51_uc001ttt.3_Silent_p.E190E	1,1	1			p.E367E	NM_001109662	NP_001103132			1,1		HECTD4	HGNC					F8VWT9_HUMAN,F8VU57_HUMAN		8	1119	-			UPI00020CE513						SNV	HECTD4,synonymous_variant,p.=,ENST00000550722,NM_001109662.3;HECTD4,synonymous_variant,p.=,ENST00000377560,;HECTD4,synonymous_variant,p.=,ENST00000430131,;HECTD4,synonymous_variant,p.=,ENST00000550724,;RN7SKP71,upstream_gene_variant,,ENST00000364558,;HECTD4,non_coding_transcript_exon_variant,,ENST00000311694,;HECTD4,upstream_gene_variant,,ENST00000547352,;	uc009zwc.2	c.1101G>A	2361/15405	1	1			c.1101G>A						12	SNP	c.(1099-1101)GAG>GAA	5	5			ovary(1)|lung(1)	2	Broad	chromosome 12 open reading frame 51			112703783		0.418	ENSG00000173064	1659	g.chr12:112703783C>T										-3.088661	KEEP	2	3	-1	40	29	2	3	-1	10.975447	40	29	0.068493	1	0	0	0	0	0	0	1	0	--	--		0	T			C12orf51_uc010syk.1_Silent_p.E190E|C12orf51_uc001tts.2_Silent_p.E190E|C12orf51_uc001ttt.3_Silent_p.E190E	74	GBM-06-0878-TP	p.E367E	C	CACTGTTTCTCTCTCCTAACA	NM_001109662	NP_001103132	112703783			0			8	1119	-	T	T			Silent							
HECTD4	0	broad.mit.edu	GRCh37	12	112622897	112622897	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-1450-01	TCGA-14-1450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000550722.1:c.9435G>A	p.Ser3145=	p.S3145=	ENST00000550722	NM_001109662.3	3145	tcG/tcA	0			1			T	S	uc009zwc.2	protein_coding	YES				9435/12819									ovary(1)|lung(1)	2	c.(8605-8607)TCG>TCA			Low_complexity_(Seg):seg,hmmpanther:PTHR11254:SF286,hmmpanther:PTHR11254	chromosome 12 open reading frame 51				ENSP00000449784		61/76									COSM3398360,COSM3398361	61/76	.		ENST00000550722	Transcript						ENSG00000173064	g.chr12:112622897C>T	26611			LOW								--	--	1																																			1,1	1			p.S2869S	NM_001109662	NP_001103132			1,1		HECTD4	HGNC					F8VWT9_HUMAN,F8VU57_HUMAN		54	8625	-			UPI00020CE513						SNV	HECTD4,synonymous_variant,p.=,ENST00000550722,NM_001109662.3;HECTD4,synonymous_variant,p.=,ENST00000430131,;HECTD4,synonymous_variant,p.=,ENST00000377560,;	uc009zwc.2	c.8607G>A	9831/15405	1	1			c.8607G>A						12	SNP	c.(8605-8607)TCG>TCA	12	12			ovary(1)|lung(1)	2	Broad	chromosome 12 open reading frame 51			112622897		0.592	ENSG00000173064	1659	g.chr12:112622897C>T										17.350687	KEEP	2	4	-1	3	1	2	4	-1	17.437974	3	1	0.6	1	0	0	0	0	0	0	1	0	--	--		0	T				145	GBM-14-1450-TP	p.S2869S	C	AGGAGGAGGACGAGTCACTGA	NM_001109662	NP_001103132	112622897			0			54	8625	-	T	T			Silent							
HECTD4	0	broad.mit.edu	GRCh37	12	112620944	112620944	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-41-3392-01	TCGA-41-3392-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000550722.1:c.10468G>C	p.Val3490Leu	p.V3490L	ENST00000550722	NM_001109662.3	3490	Gtg/Ctg	0			1			G	V/L	uc009zwc.2	protein_coding	YES				10468/12819									ovary(1)|lung(1)	2	c.(9640-9642)GTG>CTG			hmmpanther:PTHR11254:SF286,hmmpanther:PTHR11254	chromosome 12 open reading frame 51				ENSP00000449784		62/76									COSM3747909,COSM3747910	62/76	.		ENST00000550722	Transcript						ENSG00000173064	g.chr12:112620944C>G	26611			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=K0614_HUMAN&rb=3170&re=3369&var=V3214L	NA	getma.org/?cm=var&var=hg19,12,112620944,C,G&fts=all	V3214L	--	--	1																																			1,1	1		benign(0.317)	p.V3214L	NM_001109662	NP_001103132			1,1		HECTD4	HGNC					F8VWT9_HUMAN,F8VU57_HUMAN		55	9658	-			UPI00020CE513						SNV	HECTD4,missense_variant,p.Val3490Leu,ENST00000550722,NM_001109662.3;HECTD4,missense_variant,p.Val3464Leu,ENST00000377560,;HECTD4,missense_variant,p.Val3214Leu,ENST00000430131,;	uc009zwc.2	c.9640G>C	10864/15405	3	3			c.9640G>C						12	SNP	c.(9640-9642)GTG>CTG	54	54			ovary(1)|lung(1)	2	Broad	chromosome 12 open reading frame 51			112620944		0.353	ENSG00000173064	1659	g.chr12:112620944C>G										356.940022	KEEP	56	50	-1	92	100	56	50	-1	361.965784	92	100	0.357143	1	0	0	0	0	1	0	0	0	--	--		0	G				254	GBM-41-3392-TP	p.V3214L	C	ACTACAGACACGGTTAGAATC	NM_001109662	NP_001103132	112620944			0			55	9658	-	G	G			Missense_Mutation							
HECTD4	0	broad.mit.edu	GRCh37	12	112605619	112605619	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A			TCGA-76-4925-01	TCGA-76-4925-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000550722.1:c.11873A>T	p.Lys3958Met	p.K3958M	ENST00000550722	NM_001109662.3	3958	aAg/aTg	0			1			A	K/M	uc009zwc.2	protein_coding	YES				11873/12819									ovary(1)|lung(1)	2	c.(11044-11046)AAG>ATG			PROSITE_profiles:PS50237,hmmpanther:PTHR11254:SF286,hmmpanther:PTHR11254,Pfam_domain:PF00632,SMART_domains:SM00119,Superfamily_domains:SSF56204	chromosome 12 open reading frame 51				ENSP00000449784		71/76									COSM3398356,COSM3398357	71/76	.		ENST00000550722	Transcript						ENSG00000173064	g.chr12:112605619T>A	26611			MODERATE		1.555	low	getma.org/?cm=msa&ty=f&p=K0614_HUMAN&rb=3656&re=3993&var=K3682M	getma.org/pdb.php?prot=K0614_HUMAN&from=3656&to=3993&var=K3682M	getma.org/?cm=var&var=hg19,12,112605619,T,A&fts=all	K3682M	--	--	1																																			1,1	1		probably_damaging(0.992)	p.K3682M	NM_001109662	NP_001103132			1,1		HECTD4	HGNC					F8VWT9_HUMAN,F8VU57_HUMAN		64	11063	-			UPI00020CE513						SNV	HECTD4,missense_variant,p.Lys3958Met,ENST00000550722,NM_001109662.3;HECTD4,missense_variant,p.Lys3682Met,ENST00000430131,;HECTD4,missense_variant,p.Lys3932Met,ENST00000377560,;HECTD4,downstream_gene_variant,,ENST00000548588,;HECTD4,splice_region_variant,,ENST00000547085,;HECTD4,splice_region_variant,,ENST00000548140,;	uc009zwc.2	c.11045A>T	12269/15405	2	2			c.11045A>T						12	SNP	c.(11044-11046)AAG>ATG	35	35			ovary(1)|lung(1)	2	Broad	chromosome 12 open reading frame 51			112605619		0.617	ENSG00000173064	1659	g.chr12:112605619T>A										-8.409133	KEEP	5	5	-1	72	71	5	5	-1	16.317876	72	71	0.064	1	0	0	0	0	1	0	0	0	--	--		0	A				265	GBM-76-4925-TP	p.K3682M	T	TCTGCCTACCTTGTTCTTATT	NM_001109662	NP_001103132	112605619			0			64	11063	-	A	A			Missense_Mutation							
HECTD4	283450		GRCh37	12	112721040	112721040	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000550722.1:c.970G>A	p.Glu324Lys	p.E324K	ENST00000550722	NM_001109662.3	324	Gaa/Aaa	0																																																																																																																																																																																																																																												
HECW1	23072	broad.mit.edu	GRCh37	7	43360248	43360248	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395891.2:c.367G>A	p.Glu123Lys	p.E123K	ENST00000395891	NM_015052.3	123	Gaa/Aaa	0			1			A	E/K	uc003tid.1	protein_coding	YES	CCDS5469.2			367/4821									ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23	c.(367-369)GAA>AAA			hmmpanther:PTHR11254:SF79,hmmpanther:PTHR11254	NEDD4-like ubiquitin-protein ligase 1				ENSP00000379228		30-May	8.28E-06					1.50E-05			rs779527048,COSM3412055,COSM3412054	30-May	.		ENST00000395891	Transcript			protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	ENSG00000002746	g.chr7:43360248G>A	22195			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=HECW1_HUMAN&rb=1&re=200&var=E123K	getma.org/pdb.php?prot=HECW1_HUMAN&from=1&to=200&var=E123K	getma.org/?cm=var&var=hg19,7,43360248,G,A&fts=all	E123K	--	--	1																																		HECW1_uc011kbi.1_Missense_Mutation_p.E123K|HECW1_uc003tie.1_Missense_Mutation_p.E155K	0,1,1	1		probably_damaging(0.998)	p.E123K	NM_015052	NP_055867		tolerated(0.19)	0,1,1	HECW1_HUMAN	HECW1	HGNC	Q76N89	HECW1_HUMAN			A4D1V5_HUMAN		5	972	+			UPI0000D74C41	123					SNV	HECW1,missense_variant,p.Glu123Lys,ENST00000395891,NM_015052.3;HECW1,missense_variant,p.Glu123Lys,ENST00000453890,NM_001287059.1;HECW1,non_coding_transcript_exon_variant,,ENST00000492310,;	uc003tid.1	c.367G>A	972/9501	2	2			c.367G>A						7	SNP	c.(367-369)GAA>AAA	41	41			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23	Broad	NEDD4-like ubiquitin-protein ligase 1			43360248		0.428	ENSG00000002746	6914	g.chr7:43360248G>A	protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			944			944	47.765795	KEEP	9	12	-1	37	45	9	12	-1	54.724327	37	45	0.215054	1	0	0	0	0	1	0	0	0	--	--		0	A			HECW1_uc011kbi.1_Missense_Mutation_p.E123K|HECW1_uc003tie.1_Missense_Mutation_p.E155K	8	GBM-02-2486-TP	p.E123K	G	GGTCTTGTCCGAAAACTTTCT	NM_015052	NP_055867	43360248	Q76N89	HECW1_HUMAN	0			5	972	+	A	A			Missense_Mutation	123						
HECW1	23072	broad.mit.edu	GRCh37	7	43519279	43519279	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01	TCGA-06-0173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395891.2:c.3170G>A	p.Arg1057His	p.R1057H	ENST00000395891	NM_015052.3	1057	cGt/cAt	0	A:0		1			A	R/H	uc003tid.1	protein_coding	YES	CCDS5469.2			3170/4821									ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23	c.(3169-3171)CGT>CAT			hmmpanther:PTHR11254:SF79,hmmpanther:PTHR11254	NEDD4-like ubiquitin-protein ligase 1			A:0.0001	ENSP00000379228		17/30	5.79E-05		0.000346			4.50E-05			rs374489291,COSM2150404,COSM2150405	17/30	.		ENST00000395891	Transcript			protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	ENSG00000002746	g.chr7:43519279G>A	22195			MODERATE		2.14	medium	getma.org/?cm=msa&ty=f&p=HECW1_HUMAN&rb=861&re=1060&var=R1057H	getma.org/pdb.php?prot=HECW1_HUMAN&from=861&to=1060&var=R1057H	getma.org/?cm=var&var=hg19,7,43519279,G,A&fts=all	R1057H	--	--	1																																		HECW1_uc011kbi.1_Missense_Mutation_p.R1023H	0,1,1	1		probably_damaging(0.953)	p.R1057H	NM_015052	NP_055867		deleterious(0.03)	0,1,1	HECW1_HUMAN	HECW1	HGNC	Q76N89	HECW1_HUMAN			A4D1V5_HUMAN		17	3775	+			UPI0000D74C41	1057					SNV	HECW1,missense_variant,p.Arg1057His,ENST00000395891,NM_015052.3;HECW1,missense_variant,p.Arg1023His,ENST00000453890,NM_001287059.1;HECW1,missense_variant,p.Arg10His,ENST00000429529,;HECW1,non_coding_transcript_exon_variant,,ENST00000461842,;	uc003tid.1	c.3170G>A	3775/9501	1	1			c.3170G>A						7	SNP	c.(3169-3171)CGT>CAT	52	52			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23	Broad	NEDD4-like ubiquitin-protein ligase 1			43519279		0.542	ENSG00000002746	6914	g.chr7:43519279G>A	protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity		p.R1057P(NCIH1048-Tumor)	944		p.R1057P(NCIH1048-Tumor)	944	323.235239	KEEP	59	71	-1	145	138	59	71	-1	333.684049	145	138	0.320548	1	0	0	0	0	1	0	0	0	--	--		0	A			HECW1_uc011kbi.1_Missense_Mutation_p.R1023H	36	GBM-06-0173-TP	p.R1057H	G	CAGAACGGTCGTCTTCCCAAT	NM_015052	NP_055867	43519279	Q76N89	HECW1_HUMAN	0			17	3775	+	A	A			Missense_Mutation	1057						
HECW1	23072	broad.mit.edu	GRCh37	7	43485067	43485067	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01	TCGA-06-2563-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395891.2:c.2296G>A	p.Ala766Thr	p.A766T	ENST00000395891	NM_015052.3	766	Gct/Act	0			1			A	A/T	uc003tid.1	protein_coding	YES	CCDS5469.2			2296/4821									ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23	c.(2296-2298)GCT>ACT			hmmpanther:PTHR11254:SF79,hmmpanther:PTHR11254	NEDD4-like ubiquitin-protein ligase 1				ENSP00000379228		30-Nov									COSM2152835,COSM2152836	30-Nov	.		ENST00000395891	Transcript			protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	ENSG00000002746	g.chr7:43485067G>A	22195			MODERATE		0.205	neutral	getma.org/?cm=msa&ty=f&p=HECW1_HUMAN&rb=703&re=830&var=A766T	NA	getma.org/?cm=var&var=hg19,7,43485067,G,A&fts=all	A766T	--	--	1																																		HECW1_uc011kbi.1_Missense_Mutation_p.A766T	1,1	1		benign(0.001)	p.A766T	NM_015052	NP_055867		tolerated_low_confidence(0.41)	1,1	HECW1_HUMAN	HECW1	HGNC	Q76N89	HECW1_HUMAN			A4D1V5_HUMAN		11	2901	+			UPI0000D74C41	766					SNV	HECW1,missense_variant,p.Ala766Thr,ENST00000395891,NM_015052.3;HECW1,missense_variant,p.Ala766Thr,ENST00000453890,NM_001287059.1;HECW1,downstream_gene_variant,,ENST00000471043,;	uc003tid.1	c.2296G>A	2901/9501	1	1			c.2296G>A						7	SNP	c.(2296-2298)GCT>ACT	55	55			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23	Broad	NEDD4-like ubiquitin-protein ligase 1			43485067		0.652	ENSG00000002746	6914	g.chr7:43485067G>A	protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			944			944	80.361277	KEEP	19	14	-1	24	23	19	14	-1	80.726065	24	23	0.422535	1	0	0	0	0	1	0	0	0	--	--		0	A			HECW1_uc011kbi.1_Missense_Mutation_p.A766T	86	GBM-06-2563-TP	p.A766T	G	CACGAACGGCGCTGGGCCGTG	NM_015052	NP_055867	43485067	Q76N89	HECW1_HUMAN	0			11	2901	+	A	A			Missense_Mutation	766						
HECW1	0	broad.mit.edu	GRCh37	7	43360338	43360338	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-12-0821-01	TCGA-12-0821-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395891.2:c.457G>C	p.Glu153Gln	p.E153Q	ENST00000395891	NM_015052.3	153	Gaa/Caa	0			1			C	E/Q	uc003tid.1	protein_coding	YES	CCDS5469.2			457/4821									ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23	c.(457-459)GAA>CAA			hmmpanther:PTHR11254:SF79,hmmpanther:PTHR11254	NEDD4-like ubiquitin-protein ligase 1				ENSP00000379228		30-May									COSM3412057,COSM3412056	30-May	.		ENST00000395891	Transcript			protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	ENSG00000002746	g.chr7:43360338G>C	22195			MODERATE		2.085	medium	getma.org/?cm=msa&ty=f&p=HECW1_HUMAN&rb=1&re=200&var=E153Q	getma.org/pdb.php?prot=HECW1_HUMAN&from=1&to=200&var=E153Q	getma.org/?cm=var&var=hg19,7,43360338,G,C&fts=all	E153Q	--	--	1																																		HECW1_uc011kbi.1_Missense_Mutation_p.E153Q|HECW1_uc003tie.1_Missense_Mutation_p.E185Q	1,1	1		possibly_damaging(0.52)	p.E153Q	NM_015052	NP_055867		deleterious(0.01)	1,1	HECW1_HUMAN	HECW1	HGNC	Q76N89	HECW1_HUMAN			A4D1V5_HUMAN		5	1062	+			UPI0000D74C41	153					SNV	HECW1,missense_variant,p.Glu153Gln,ENST00000395891,NM_015052.3;HECW1,missense_variant,p.Glu153Gln,ENST00000453890,NM_001287059.1;HECW1,non_coding_transcript_exon_variant,,ENST00000492310,;	uc003tid.1	c.457G>C	1062/9501	3	3			c.457G>C						7	SNP	c.(457-459)GAA>CAA	3	3			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23	Broad	NEDD4-like ubiquitin-protein ligase 1			43360338		0.458	ENSG00000002746	6914	g.chr7:43360338G>C	protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			944			944	-27.594515	KEEP	2	1	-1	102	46	2	1	-1	6.496544	102	46	0.022388	1	0	0	0	0	1	0	0	0	--	--		0	C			HECW1_uc011kbi.1_Missense_Mutation_p.E153Q|HECW1_uc003tie.1_Missense_Mutation_p.E185Q	123	GBM-12-0821-TP	p.E153Q	G	GTACTTTGTGGAACGTGAGTA	NM_015052	NP_055867	43360338	Q76N89	HECW1_HUMAN	0			5	1062	+	C	C			Missense_Mutation	153						
HECW1	0	broad.mit.edu	GRCh37	7	43484403	43484403	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395891.2:c.1632G>A	p.Thr544=	p.T544=	ENST00000395891	NM_015052.3	544	acG/acA	0			1			A	T	uc003tid.1	protein_coding	YES	CCDS5469.2			1632/4821									ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23	c.(1630-1632)ACG>ACA			hmmpanther:PTHR11254:SF79,hmmpanther:PTHR11254	NEDD4-like ubiquitin-protein ligase 1				ENSP00000379228		30-Nov									COSM3412061,COSM3412060	30-Nov	.		ENST00000395891	Transcript			protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	ENSG00000002746	g.chr7:43484403G>A	22195			LOW								--	--	1																																		HECW1_uc011kbi.1_Silent_p.T544T	1,1	1			p.T544T	NM_015052	NP_055867			1,1	HECW1_HUMAN	HECW1	HGNC	Q76N89	HECW1_HUMAN			A4D1V5_HUMAN		11	2237	+			UPI0000D74C41	544					SNV	HECW1,synonymous_variant,p.=,ENST00000395891,NM_015052.3;HECW1,synonymous_variant,p.=,ENST00000453890,NM_001287059.1;HECW1,downstream_gene_variant,,ENST00000471043,;	uc003tid.1	c.1632G>A	2237/9501	2	2			c.1632G>A						7	SNP	c.(1630-1632)ACG>ACA	47	47			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23	Broad	NEDD4-like ubiquitin-protein ligase 1			43484403		0.672	ENSG00000002746	6914	g.chr7:43484403G>A	protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			944			944	54.472686	KEEP	9	22	-1	56	81	9	22	-1	67.430904	56	81	0.185714	1	0	0	0	0	0	0	1	0	--	--		0	A			HECW1_uc011kbi.1_Silent_p.T544T	249	GBM-32-5222-TP	p.T544T	G	AGCTGGAGACGGTGATCGCGT	NM_015052	NP_055867	43484403	Q76N89	HECW1_HUMAN	0			11	2237	+	A	A			Silent	544						
HECW1	0	broad.mit.edu	GRCh37	7	43484236	43484236	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-41-3393-01	TCGA-41-3393-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395891.2:c.1465G>T	p.Glu489Ter	p.E489*	ENST00000395891	NM_015052.3	489	Gag/Tag	0			1			T	E/*	uc003tid.1	protein_coding	YES	CCDS5469.2			1465/4821									ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23	c.(1465-1467)GAG>TAG			hmmpanther:PTHR11254:SF79,hmmpanther:PTHR11254	NEDD4-like ubiquitin-protein ligase 1				ENSP00000379228		30-Nov									COSM3412059,COSM3412058	30-Nov	.		ENST00000395891	Transcript			protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	ENSG00000002746	g.chr7:43484236G>T	22195			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,43484236,G,T&fts=all	E489*	--	--	1																																		HECW1_uc011kbi.1_Nonsense_Mutation_p.E489*	1,1	1			p.E489*	NM_015052	NP_055867			1,1	HECW1_HUMAN	HECW1	HGNC	Q76N89	HECW1_HUMAN			A4D1V5_HUMAN		11	2070	+			UPI0000D74C41	489			Glu-rich.		SNV	HECW1,stop_gained,p.Glu489Ter,ENST00000395891,NM_015052.3;HECW1,stop_gained,p.Glu489Ter,ENST00000453890,NM_001287059.1;HECW1,downstream_gene_variant,,ENST00000471043,;	uc003tid.1	c.1465G>T	2070/9501	5	1			c.1465G>T						7	SNP	c.(1465-1467)GAG>TAG	3	3			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23	Broad	NEDD4-like ubiquitin-protein ligase 1			43484236		0.537	ENSG00000002746	6914	g.chr7:43484236G>T	protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			944			944	9.959913	KEEP	3	3	0.5	10	17	3	3	0.5	12.053623	10	17	0.2	1	0	0	0	0	0	1	0	0	--	--		0	T			HECW1_uc011kbi.1_Nonsense_Mutation_p.E489*	255	GBM-41-3393-TP	p.E489*	G	GCCCTTGGAGGAGGAAGCAAC	NM_015052	NP_055867	43484236	Q76N89	HECW1_HUMAN	0			11	2070	+	T	T			Nonsense_Mutation	489			Glu-rich.			
HECW1	23072		GRCh37	7	43351508	43351508	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000395891.2:c.174C>T	p.His58=	p.H58=	ENST00000395891	NM_015052.3	58	caC/caT	0																																																																																																																																																																																																																																												
HECW2	57520	broad.mit.edu	GRCh37	2	197183877	197183877	+	synonymous_variant	Silent	SNP	G	G	A	rs111271189	byFrequency	TCGA-06-0192-01	TCGA-06-0192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260983.3:c.1737C>T	p.Gly579=	p.G579=	ENST00000260983	NM_020760.1	579	ggC/ggT	0	A:0.0005		1			A	G	uc002utm.1	protein_coding	YES	CCDS33354.1			1737/4719									skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18	c.(1735-1737)GGC>GGT			hmmpanther:PTHR11254:SF127,hmmpanther:PTHR11254	HECT, C2 and WW domain containing E3 ubiquitin			A:0.0001	ENSP00000260983		29-Sep	3.30E-05	0.00039							rs111271189,COSM2150647	29-Sep	.		ENST00000260983	Transcript			protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	ENSG00000138411	g.chr2:197183877G>A	29853			LOW								--	--	1																																		HECW2_uc002utl.1_Silent_p.G223G	0,1	1			p.G579G	NM_020760	NP_065811			0,1	HECW2_HUMAN	HECW2	HGNC	Q9P2P5	HECW2_HUMAN			C9JPI9_HUMAN,C9JHL2_HUMAN		9	1920	-			UPI00001A75E8	579					SNV	HECW2,synonymous_variant,p.=,ENST00000260983,NM_020760.1;HECW2,synonymous_variant,p.=,ENST00000409111,;	uc002utm.1	c.1737C>T	1920/11809	2	2			c.1737C>T						2	SNP	c.(1735-1737)GGC>GGT	32	32			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18	Broad	HECT, C2 and WW domain containing E3 ubiquitin			197183877		0.607	ENSG00000138411	6915	g.chr2:197183877G>A	protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity							69.459642	KEEP	21	10	-1	48	32	21	10	-1	74.129156	48	32	0.27451	1	0	0	0	0	0	0	1	0	--	--		0	A			HECW2_uc002utl.1_Silent_p.G223G	44	GBM-06-0192-TP	p.G579G	G	CTGTGTCTGCGCCACTTGTGG	NM_020760	NP_065811	197183877	Q9P2P5	HECW2_HUMAN	0			9	1920	-	A	A			Silent	579						
HELB	0	broad.mit.edu	GRCh37	12	66698566	66698566	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5218-01	TCGA-28-5218-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000247815.4:c.243G>A	p.Pro81=	p.P81=	ENST00000247815	NM_033647.3	81	ccG/ccA	0			1			A	P	uc001sti.2	protein_coding	YES	CCDS8976.1			243/3264									central_nervous_system(1)|pancreas(1)	2	c.(241-243)CCG>CCA			hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF97	helicase (DNA) B				ENSP00000247815		13-Feb									COSM3398998	13-Feb	.		ENST00000247815	Transcript			DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	ENSG00000127311	g.chr12:66698566G>A	17196			LOW								--	--	1																																		HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	1	1			p.P81P	NM_033647	NP_387467			1	HELB_HUMAN	HELB	HGNC	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)			2	271	+			UPI000013CC2D	81					SNV	HELB,synonymous_variant,p.=,ENST00000247815,NM_033647.3;HELB,synonymous_variant,p.=,ENST00000545134,;HELB,synonymous_variant,p.=,ENST00000542394,;HELB,synonymous_variant,p.=,ENST00000440906,;	uc001sti.2	c.243G>A	302/3420	2	2			c.243G>A						12	SNP	c.(241-243)CCG>CCA	42	42			central_nervous_system(1)|pancreas(1)	2	Broad	helicase (DNA) B			66698566		0.378	ENSG00000127311	6917	g.chr12:66698566G>A	DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity							-43.579932	KEEP	4	3	-1	104	116	4	3	-1	6.651251	104	116	0.020513	1	0	0	0	0	0	0	1	0	--	--		0	A			HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	224	GBM-28-5218-TP	p.P81P	G	GACGTTTTCCGATAACAGGTG	NM_033647	NP_387467	66698566	Q8NG08	HELB_HUMAN	0	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	2	271	+	A	A			Silent	81						
HELQ	113510		GRCh37	4	84368060	84368060	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000295488.3:c.1320A>G	p.Lys440=	p.K440=	ENST00000295488	NM_133636.2	440	aaA/aaG	0																																																																																																																																																																																																																																												
HELT	391723	broad.mit.edu	GRCh37	4	185940979	185940979	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs147187823	byFrequency	TCGA-02-2485-01	TCGA-02-2485-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338875.4:c.466C>T	p.Pro156Ser	p.P156S	ENST00000338875	NM_001029887.1	156	Ccc/Tcc	0	T:0.0007	T:0.0008	1	T:0		T	P/S	uc011ckq.1	protein_coding					211/729										0	c.(466-468)CCC>TCC			hmmpanther:PTHR10985:SF8,hmmpanther:PTHR10985,SMART_domains:SM00353	HES/HEY-like transcription factor		T:0	T:0	ENSP00000426033	T:0	4-Mar	0.000124	0.00148	9.50E-05			1.64E-05			rs147187823,COSM3409195	4-Mar	common_variant		ENST00000515777	Transcript		T:0.0002			DNA binding	ENSG00000187821	g.chr4:185940979C>T	33783			MODERATE		1.18	low	getma.org/?cm=msa&ty=f&p=HELT_HUMAN&rb=122&re=199&var=P156S	NA	getma.org/?cm=var&var=hg19,4,185940979,C,T&fts=all	P156S	--	--	1																																		HELT_uc011cko.1_Missense_Mutation_p.P71S|HELT_uc003ixa.3_Missense_Mutation_p.P71S|HELT_uc011ckp.1_Missense_Mutation_p.P15S	0,1			benign(0.058)	p.P156S	NM_001029887	NP_001025058	T:0	tolerated(0.15)	0,1		HELT	HGNC	A6NFD8	HELT_HUMAN		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	B7ZMI7_HUMAN		3	466	+		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	UPI000189A80D	156					SNV	HELT,missense_variant,p.Pro156Ser,ENST00000338875,NM_001029887.1;HELT,missense_variant,p.Pro71Ser,ENST00000505610,;HELT,missense_variant,p.Pro71Ser,ENST00000515777,;HELT,non_coding_transcript_exon_variant,,ENST00000513599,;	uc011ckq.1	c.466C>T	299/841	2	2			c.466C>T						4	SNP	c.(466-468)CCC>TCC	39	39				0	Broad	HES/HEY-like transcription factor			185940979		0.632	ENSG00000187821	6920	g.chr4:185940979C>T			DNA binding							6.11521	KEEP	2	1	-1	7	10	2	1	-1	7.791707	7	10	0.176471	1	0	0	0	0	1	0	0	0	--	--		0	T			HELT_uc011cko.1_Missense_Mutation_p.P71S|HELT_uc003ixa.3_Missense_Mutation_p.P71S|HELT_uc011ckp.1_Missense_Mutation_p.P15S	7	GBM-02-2485-TP	p.P156S	C	CGCTGATTTTCCCCGGGGAAG	NM_001029887	NP_001025058	185940979	A6NFD8	HELT_HUMAN	0		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	3	466	+	T	T		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	Missense_Mutation	156						
HELZ	9931	broad.mit.edu	GRCh37	17	65104714	65104714	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01	TCGA-06-2567-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358691.5:c.4618C>T	p.Leu1540Phe	p.L1540F	ENST00000358691	NM_014877.3	1540	Ctc/Ttc	0			1			A	L/F	uc010wqk.1	protein_coding	YES	CCDS42374.1			4618/5829									ovary(1)|pancreas(1)	2	c.(4621-4623)CTC>TTC			Low_complexity_(Seg):seg	helicase with zinc finger domain				ENSP00000351524		30/33									COSM2153058	30/33	.		ENST00000358691	Transcript						ENSG00000198265	g.chr17:65104714G>A	16878			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=HELZ_HUMAN&rb=1453&re=1652&var=L1540F	NA	getma.org/?cm=var&var=hg19,17,65104714,G,A&fts=all	L1540F	--	--	1																																		HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.L1540F|HELZ_uc010der.2_Missense_Mutation_p.L84F	1	1		unknown(0)	p.L1541F	NM_014877	NP_055692		deleterious_low_confidence(0)	1	HELZ_HUMAN	HELZ	HGNC					J3KT20_HUMAN,J3KS59_HUMAN		30	4808	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)		UPI000013D7F5						SNV	HELZ,missense_variant,p.Leu1540Phe,ENST00000358691,NM_014877.3;HELZ,missense_variant,p.Leu1541Phe,ENST00000580168,;HELZ,3_prime_UTR_variant,,ENST00000579953,;	uc010wqk.1	c.4621C>T	4785/13810	1	1			c.4621C>T						17	SNP	c.(4621-4623)CTC>TTC	51	51			ovary(1)|pancreas(1)	2	Broad	helicase with zinc finger domain			65104714		0.577	ENSG00000198265	6921	g.chr17:65104714G>A										110.828343	KEEP	20	22	-1	27	39	20	22	-1	111.793062	27	39	0.388889	1	0	0	0	0	1	0	0	0	--	--		0	A			HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.L1540F|HELZ_uc010der.2_Missense_Mutation_p.L84F	89	GBM-06-2567-TP	p.L1541F	G	AGATGCTGGAGGTGAGGATGG	NM_014877	NP_055692	65104714			0			30	4808	-	A	A	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)		Missense_Mutation							
HELZ	0	broad.mit.edu	GRCh37	17	65119252	65119252	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-1977-01	TCGA-32-1977-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358691.5:c.3464T>C	p.Ile1155Thr	p.I1155T	ENST00000358691	NM_014877.3	1155	aTt/aCt	0	G:0		1			G	I/T	uc010wqk.1	protein_coding	YES	CCDS42374.1			3464/5829									ovary(1)|pancreas(1)	2	c.(3466-3468)ATT>ACT			hmmpanther:PTHR10887:SF9,hmmpanther:PTHR10887	helicase with zinc finger domain			G:0.0001	ENSP00000351524		26/33	1.66E-05					3.04E-05			rs373787062,COSM3403133	26/33	.		ENST00000358691	Transcript						ENSG00000198265	g.chr17:65119252A>G	16878			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=HELZ_HUMAN&rb=1053&re=1252&var=I1155T	NA	getma.org/?cm=var&var=hg19,17,65119252,A,G&fts=all	I1155T	--	--	1																																		HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.I1155T	0,1	1		benign(0.428)	p.I1156T	NM_014877	NP_055692		deleterious_low_confidence(0.01)	0,1	HELZ_HUMAN	HELZ	HGNC					J3KT20_HUMAN,J3KS59_HUMAN		26	3654	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)		UPI000013D7F5						SNV	HELZ,missense_variant,p.Ile1155Thr,ENST00000358691,NM_014877.3;HELZ,missense_variant,p.Ile1156Thr,ENST00000580168,;HELZ,3_prime_UTR_variant,,ENST00000579953,;	uc010wqk.1	c.3467T>C	3631/13810	3	3			c.3467T>C						17	SNP	c.(3466-3468)ATT>ACT	63	63			ovary(1)|pancreas(1)	2	Broad	helicase with zinc finger domain			65119252		0.388	ENSG00000198265	6921	g.chr17:65119252A>G										87.496659	KEEP	13	17	-1	36	30	13	17	-1	90.14401	36	30	0.313953	1	0	0	0	0	1	0	0	0	--	--		0	G			HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.I1155T	229	GBM-32-1977-TP	p.I1156T	A	AGGATTGCCAATAAGTACAGA	NM_014877	NP_055692	65119252			0			26	3654	-	G	G	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)		Missense_Mutation							
HELZ2	85441	broad.mit.edu	GRCh37	20	62198633	62198633	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2558-01	TCGA-06-2558-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000467148.1:c.2078C>T	p.Ala693Val	p.A693V	ENST00000467148	NM_001037335.2	693	gCg/gTg	0			1			A	A/V	uc002yfm.2	protein_coding	YES	CCDS33508.1			2078/7950									central_nervous_system(2)	2	c.(2077-2079)GCG>GTG			hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF332,Gene3D:3.40.50.300,Pfam_domain:PF13086,Superfamily_domains:SSF52540	PPAR-alpha interacting complex protein 285				ENSP00000417401		19-Jun									COSM2152574	19-Jun	.		ENST00000467148	Transcript			cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	ENSG00000130589	g.chr20:62198633G>A	30021			MODERATE		1.12	low	getma.org/?cm=msa&ty=f&p=PR285_HUMAN&rb=516&re=706&var=A693V	getma.org/pdb.php?prot=PR285_HUMAN&from=516&to=706&var=A693V	getma.org/?cm=var&var=hg19,20,62198633,G,A&fts=all	A693V	--	--	1																																		PRIC285_uc002yfl.1_Missense_Mutation_p.A124V	1	1		probably_damaging(1)	p.A693V	NM_001037335	NP_001032412		deleterious(0)	1	HELZ2_HUMAN	HELZ2	HGNC	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		Q3C1U4_HUMAN		7	2970	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		UPI0000246BF7	693					SNV	HELZ2,missense_variant,p.Ala693Val,ENST00000467148,NM_001037335.2;HELZ2,missense_variant,p.Ala124Val,ENST00000427522,NM_033405.3;HELZ2,downstream_gene_variant,,ENST00000479540,;HELZ2,downstream_gene_variant,,ENST00000454223,;HELZ2,downstream_gene_variant,,ENST00000370082,;	uc002yfm.2	c.2078C>T	2148/8064	1	1			c.2078C>T						20	SNP	c.(2077-2079)GCG>GTG	50	50			central_nervous_system(2)	2	Broad	PPAR-alpha interacting complex protein 285			62198633		0.682	ENSG00000130589	12277	g.chr20:62198633G>A	cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding							48.101424	KEEP	8	8	-1	10	13	8	8	-1	48.225702	10	13	0.571429	1	0	0	0	0	1	0	0	0	--	--		0	A			PRIC285_uc002yfl.1_Missense_Mutation_p.A124V	82	GBM-06-2558-TP	p.A693V	G	GTGGTCGCCCGCCAGCACGAG	NM_001037335	NP_001032412	62198633	Q9BYK8	PR285_HUMAN	0	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		7	2970	-	A	A	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Missense_Mutation	693						
HELZ2	0	broad.mit.edu	GRCh37	20	62195800	62195800	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01	TCGA-12-3649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000467148.1:c.4375G>A	p.Glu1459Lys	p.E1459K	ENST00000467148	NM_001037335.2	1459	Gag/Aag	0			1			T	E/K	uc002yfm.2	protein_coding	YES	CCDS33508.1			4375/7950									central_nervous_system(2)	2	c.(4375-4377)GAG>AAG			hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF332,Pfam_domain:PF00773,SMART_domains:SM00955,Superfamily_domains:SSF50249	PPAR-alpha interacting complex protein 285				ENSP00000417401		19-Aug									COSM3405283	19-Aug	.		ENST00000467148	Transcript			cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	ENSG00000130589	g.chr20:62195800C>T	30021			MODERATE		2.63	medium	getma.org/?cm=msa&ty=f&p=PR285_HUMAN&rb=1334&re=1693&var=E1459K	getma.org/pdb.php?prot=PR285_HUMAN&from=1334&to=1693&var=E1459K	getma.org/?cm=var&var=hg19,20,62195800,C,T&fts=all	E1459K	--	--	1																																		PRIC285_uc002yfl.1_Missense_Mutation_p.E890K	1	1		probably_damaging(0.935)	p.E1459K	NM_001037335	NP_001032412		deleterious(0)	1	HELZ2_HUMAN	HELZ2	HGNC	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		Q3C1U4_HUMAN		9	5267	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		UPI0000246BF7	1459					SNV	HELZ2,missense_variant,p.Glu1459Lys,ENST00000467148,NM_001037335.2;HELZ2,missense_variant,p.Glu890Lys,ENST00000427522,NM_033405.3;HELZ2,upstream_gene_variant,,ENST00000478861,;HELZ2,downstream_gene_variant,,ENST00000454223,;	uc002yfm.2	c.4375G>A	4445/8064	2	2			c.4375G>A						20	SNP	c.(4375-4377)GAG>AAG	47	47			central_nervous_system(2)	2	Broad	PPAR-alpha interacting complex protein 285			62195800		0.682	ENSG00000130589	12277	g.chr20:62195800C>T	cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding							6.349018	KEEP	2	0	-1	2	1	2	0	-1	6.392749	2	1	0.4	1	0	0	0	0	1	0	0	0	--	--		0	T			PRIC285_uc002yfl.1_Missense_Mutation_p.E890K	125	GBM-12-3649-TP	p.E1459K	C	TCCGCCTCCTCGTAGGACAGC	NM_001037335	NP_001032412	62195800	Q9BYK8	PR285_HUMAN	0	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		9	5267	-	T	T	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Missense_Mutation	1459						
HELZ2	0	broad.mit.edu	GRCh37	20	62200284	62200284	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01	TCGA-32-1970-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000467148.1:c.1157C>T	p.Ala386Val	p.A386V	ENST00000467148	NM_001037335.2	386	gCg/gTg	0			1			A	A/V	uc002yfm.2	protein_coding	YES	CCDS33508.1			1157/7950									central_nervous_system(2)	2	c.(1156-1158)GCG>GTG			hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF332	PPAR-alpha interacting complex protein 285				ENSP00000417401		19-May	3.30E-05					4.79E-05		6.14E-05	rs748068037,COSM3405286	19-May	.		ENST00000467148	Transcript			cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	ENSG00000130589	g.chr20:62200284G>A	30021			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=PR285_HUMAN&rb=1&re=493&var=A386V	NA	getma.org/?cm=var&var=hg19,20,62200284,G,A&fts=all	A386V	--	--	1																																		PRIC285_uc002yfl.1_5'Flank	0,1	1		possibly_damaging(0.691)	p.A386V	NM_001037335	NP_001032412		deleterious(0.02)	0,1	HELZ2_HUMAN	HELZ2	HGNC	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		Q3C1U4_HUMAN		6	2049	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		UPI0000246BF7	386					SNV	HELZ2,missense_variant,p.Ala386Val,ENST00000467148,NM_001037335.2;HELZ2,upstream_gene_variant,,ENST00000427522,NM_033405.3;HELZ2,downstream_gene_variant,,ENST00000479540,;HELZ2,upstream_gene_variant,,ENST00000454223,;HELZ2,downstream_gene_variant,,ENST00000370082,;	uc002yfm.2	c.1157C>T	1227/8064	2	2			c.1157C>T						20	SNP	c.(1156-1158)GCG>GTG	47	47			central_nervous_system(2)	2	Broad	PPAR-alpha interacting complex protein 285			62200284		0.677	ENSG00000130589	12277	g.chr20:62200284G>A	cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding							75.982292	KEEP	14	17	-1	26	34	14	17	-1	77.682339	26	34	0.345679	1	0	0	0	0	1	0	0	0	--	--		0	A			PRIC285_uc002yfl.1_5'Flank	228	GBM-32-1970-TP	p.A386V	G	TCCCGGAGGCGCGAAGAGCAT	NM_001037335	NP_001032412	62200284	Q9BYK8	PR285_HUMAN	0	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		6	2049	-	A	A	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Missense_Mutation	386						
HELZ2	0	broad.mit.edu	GRCh37	20	62198405	62198405	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000467148.1:c.2306G>A	p.Gly769Asp	p.G769D	ENST00000467148	NM_001037335.2	769	gGc/gAc	0			1			T	G/D	uc002yfm.2	protein_coding	YES	CCDS33508.1			2306/7950									central_nervous_system(2)	2	c.(2305-2307)GGC>GAC			hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF332,Pfam_domain:PF13087,Superfamily_domains:SSF52540	PPAR-alpha interacting complex protein 285				ENSP00000417401		19-Jun									COSM3405285	19-Jun	.		ENST00000467148	Transcript			cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	ENSG00000130589	g.chr20:62198405C>T	30021			MODERATE		2.345	medium	getma.org/?cm=msa&ty=f&p=PR285_HUMAN&rb=712&re=916&var=G769D	getma.org/pdb.php?prot=PR285_HUMAN&from=712&to=916&var=G769D	getma.org/?cm=var&var=hg19,20,62198405,C,T&fts=all	G769D	--	--	1																																		PRIC285_uc002yfl.1_Missense_Mutation_p.G200D	1	1		probably_damaging(1)	p.G769D	NM_001037335	NP_001032412		deleterious(0)	1	HELZ2_HUMAN	HELZ2	HGNC	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		Q3C1U4_HUMAN		7	3198	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		UPI0000246BF7	769					SNV	HELZ2,missense_variant,p.Gly769Asp,ENST00000467148,NM_001037335.2;HELZ2,missense_variant,p.Gly200Asp,ENST00000427522,NM_033405.3;HELZ2,downstream_gene_variant,,ENST00000479540,;HELZ2,downstream_gene_variant,,ENST00000454223,;HELZ2,downstream_gene_variant,,ENST00000370082,;	uc002yfm.2	c.2306G>A	2376/8064	2	2			c.2306G>A						20	SNP	c.(2305-2307)GGC>GAC	41	41			central_nervous_system(2)	2	Broad	PPAR-alpha interacting complex protein 285			62198405		0.652	ENSG00000130589	12277	g.chr20:62198405C>T	cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding							-11.776044	KEEP	3	5	-1	60	81	3	5	-1	15.233772	60	81	0.054264	1	0	0	0	0	1	0	0	0	--	--		0	T			PRIC285_uc002yfl.1_Missense_Mutation_p.G200D	246	GBM-32-4211-TP	p.G769D	C	CGGAACCTTGCCCCTGGCGTG	NM_001037335	NP_001032412	62198405	Q9BYK8	PR285_HUMAN	0	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		7	3198	-	T	T	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Missense_Mutation	769						
HELZ2	0	broad.mit.edu	GRCh37	20	62197056	62197056	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6285-01	TCGA-76-6285-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000467148.1:c.3119C>T	p.Ala1040Val	p.A1040V	ENST00000467148	NM_001037335.2	1040	gCg/gTg	0	A:0.0002		1			A	A/V	uc002yfm.2	protein_coding	YES	CCDS33508.1			3119/7950									central_nervous_system(2)	2	c.(3118-3120)GCG>GTG			Low_complexity_(Seg):seg,hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF332	PPAR-alpha interacting complex protein 285			A:0	ENSP00000417401		19-Aug	2.48E-05	0.000106				3.17E-05			rs374824256,COSM3405284	19-Aug	.		ENST00000467148	Transcript			cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	ENSG00000130589	g.chr20:62197056G>A	30021			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=PR285_HUMAN&rb=917&re=1116&var=A1040V	NA	getma.org/?cm=var&var=hg19,20,62197056,G,A&fts=all	A1040V	--	--	1																																		PRIC285_uc002yfl.1_Missense_Mutation_p.A471V	0,1	1		benign(0.006)	p.A1040V	NM_001037335	NP_001032412		tolerated(0.39)	0,1	HELZ2_HUMAN	HELZ2	HGNC	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		Q3C1U4_HUMAN		9	4011	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		UPI0000246BF7	1040			Ala-rich.		SNV	HELZ2,missense_variant,p.Ala1040Val,ENST00000467148,NM_001037335.2;HELZ2,missense_variant,p.Ala471Val,ENST00000427522,NM_033405.3;HELZ2,downstream_gene_variant,,ENST00000479540,;HELZ2,upstream_gene_variant,,ENST00000478861,;HELZ2,downstream_gene_variant,,ENST00000454223,;HELZ2,downstream_gene_variant,,ENST00000370082,;	uc002yfm.2	c.3119C>T	3189/8064	2	2			c.3119C>T						20	SNP	c.(3118-3120)GCG>GTG	41	41			central_nervous_system(2)	2	Broad	PPAR-alpha interacting complex protein 285			62197056		0.687	ENSG00000130589	12277	g.chr20:62197056G>A	cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding							34.0261	KEEP	10	6	-1	4	10	10	6	-1	34.129359	4	10	0.578947	1	0	0	0	0	1	0	0	0	--	--		0	A			PRIC285_uc002yfl.1_Missense_Mutation_p.A471V	280	GBM-76-6285-TP	p.A1040V	G	CGCTCCTGCCGCACAGGCCCC	NM_001037335	NP_001032412	62197056	Q9BYK8	PR285_HUMAN	0	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		9	4011	-	A	A	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Missense_Mutation	1040			Ala-rich.			
HEMGN	55363	broad.mit.edu	GRCh37	9	100698486	100698486	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-2565-01	TCGA-06-2565-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259456.3:c.140T>C	p.Val47Ala	p.V47A	ENST00000259456	NM_018437.4	47	gTg/gCg	0			1			G	V/A	uc004axy.2	protein_coding	YES	CCDS6731.1			140/1455									ovary(1)	1	c.(139-141)GTG>GCG			hmmpanther:PTHR15993:SF6,hmmpanther:PTHR15993	hemogen				ENSP00000259456		5-Mar									COSM3413191	5-Mar	.		ENST00000259456	Transcript			cell differentiation|multicellular organismal development			ENSG00000136929	g.chr9:100698486A>G	17509			MODERATE		-0.285	neutral	getma.org/?cm=msa&ty=f&p=HEMGN_HUMAN&rb=1&re=483&var=V47A	NA	getma.org/?cm=var&var=hg19,9,100698486,A,G&fts=all	V47A	--	--	1																																		HEMGN_uc004axz.2_Missense_Mutation_p.V47A	1	1		benign(0.08)	p.V47A	NM_197978	NP_932095		tolerated(1)	1	HEMGN_HUMAN	HEMGN	HGNC	Q9BXL5	HEMGN_HUMAN					2	248	-		Acute lymphoblastic leukemia(62;0.0559)	UPI000004D311	47			Necessary for nuclear localization.		SNV	HEMGN,missense_variant,p.Val47Ala,ENST00000259456,NM_018437.4,NM_197978.2;	uc004axy.2	c.140T>C	284/2192	4	4			c.140T>C						9	SNP	c.(139-141)GTG>GCG	25	25			ovary(1)	1	Broad	hemogen			100698486		0.299	ENSG00000136929	6922	g.chr9:100698486A>G	cell differentiation|multicellular organismal development									-50.571145	KEEP	2	5	-1	141	141	2	5	-1	12.380438	141	141	0.024	1	0	0	0	0	1	0	0	0	--	--		0	G			HEMGN_uc004axz.2_Missense_Mutation_p.V47A	88	GBM-06-2565-TP	p.V47A	A	CTTTTCATGCACTTCAGCTTT	NM_197978	NP_932095	100698486	Q9BXL5	HEMGN_HUMAN	0			2	248	-	G	G		Acute lymphoblastic leukemia(62;0.0559)	Missense_Mutation	47			Necessary for nuclear localization.			
HEMGN	0	broad.mit.edu	GRCh37	9	100700360	100700360	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-16-1045-01	TCGA-16-1045-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259456.3:c.59A>G	p.Gln20Arg	p.Q20R	ENST00000259456	NM_018437.4	20	cAa/cGa	0			1			C	Q/R	uc004axy.2	protein_coding	YES	CCDS6731.1			59/1455									ovary(1)	1	c.(58-60)CAA>CGA			hmmpanther:PTHR15993:SF6,hmmpanther:PTHR15993	hemogen				ENSP00000259456		5-Feb									COSM3413192	5-Feb	.		ENST00000259456	Transcript			cell differentiation|multicellular organismal development			ENSG00000136929	g.chr9:100700360T>C	17509			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=HEMGN_HUMAN&rb=1&re=483&var=Q20R	NA	getma.org/?cm=var&var=hg19,9,100700360,T,C&fts=all	Q20R	--	--	1																																		HEMGN_uc004axz.2_Missense_Mutation_p.Q20R	1	1		possibly_damaging(0.607)	p.Q20R	NM_197978	NP_932095		tolerated(0.27)	1	HEMGN_HUMAN	HEMGN	HGNC	Q9BXL5	HEMGN_HUMAN					1	167	-		Acute lymphoblastic leukemia(62;0.0559)	UPI000004D311	20			Necessary for nuclear localization.		SNV	HEMGN,missense_variant,p.Gln20Arg,ENST00000259456,NM_018437.4,NM_197978.2;	uc004axy.2	c.59A>G	203/2192	4	4			c.59A>G						9	SNP	c.(58-60)CAA>CGA	33	33			ovary(1)	1	Broad	hemogen			100700360		0.423	ENSG00000136929	6922	g.chr9:100700360T>C	cell differentiation|multicellular organismal development									-54.687636	KEEP	1	2	-1	141	120	1	2	-1	6.409876	141	120	0.013274	1	0	0	0	0	1	0	0	0	--	--		0	C			HEMGN_uc004axz.2_Missense_Mutation_p.Q20R	157	GBM-16-1045-TP	p.Q20R	T	GTTCTCTTCTTGATGAGGGTC	NM_197978	NP_932095	100700360	Q9BXL5	HEMGN_HUMAN	0			1	167	-	C	C		Acute lymphoblastic leukemia(62;0.0559)	Missense_Mutation	20			Necessary for nuclear localization.			
HEMGN	0	broad.mit.edu	GRCh37	9	100692686	100692686	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259456.3:c.991G>A	p.Glu331Lys	p.E331K	ENST00000259456	NM_018437.4	331	Gaa/Aaa	0			1			T	E/K	uc004axy.2	protein_coding	YES	CCDS6731.1			991/1455									ovary(1)	1	c.(991-993)GAA>AAA			hmmpanther:PTHR15993:SF6,hmmpanther:PTHR15993	hemogen				ENSP00000259456		5-Apr									COSM1103064	5-Apr	.		ENST00000259456	Transcript			cell differentiation|multicellular organismal development			ENSG00000136929	g.chr9:100692686C>T	17509			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=HEMGN_HUMAN&rb=1&re=483&var=E331K	NA	getma.org/?cm=var&var=hg19,9,100692686,C,T&fts=all	E331K	--	--	1																																		HEMGN_uc004axz.2_Missense_Mutation_p.E331K	1	1		benign(0.003)	p.E331K	NM_197978	NP_932095		tolerated(0.1)	1	HEMGN_HUMAN	HEMGN	HGNC	Q9BXL5	HEMGN_HUMAN					3	1099	-		Acute lymphoblastic leukemia(62;0.0559)	UPI000004D311	331					SNV	HEMGN,missense_variant,p.Glu331Lys,ENST00000259456,NM_018437.4,NM_197978.2;	uc004axy.2	c.991G>A	1135/2192	2	2			c.991G>A						9	SNP	c.(991-993)GAA>AAA	42	42			ovary(1)	1	Broad	hemogen			100692686		0.358	ENSG00000136929	6922	g.chr9:100692686C>T	cell differentiation|multicellular organismal development									508.692893	KEEP	87	97	-1	180	160	87	97	-1	518.271605	180	160	0.352113	1	0	0	0	0	1	0	0	0	--	--		0	T			HEMGN_uc004axz.2_Missense_Mutation_p.E331K	249	GBM-32-5222-TP	p.E331K	C	ACAATAATTTCGTTACATGTT	NM_197978	NP_932095	100692686	Q9BXL5	HEMGN_HUMAN	0			3	1099	-	T	T		Acute lymphoblastic leukemia(62;0.0559)	Missense_Mutation	331						
HEPACAM2	253012	broad.mit.edu	GRCh37	7	92848596	92848596	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01	TCGA-06-0649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394468.2:c.248C>T	p.Ser83Phe	p.S83F	ENST00000394468	NM_001039372.1	83	tCt/tTt	0			1			A	S/F	uc003umm.2	protein_coding	YES	CCDS43616.1			248/1389									ovary(3)|breast(1)|kidney(1)	5	c.(247-249)TCT>TTT			hmmpanther:PTHR19955:SF125,hmmpanther:PTHR19955,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726	HEPACAM family member 2 isoform 1				ENSP00000377980		10-Feb									COSM2151516,COSM2151515	10-Feb	.		ENST00000394468	Transcript				integral to membrane		ENSG00000188175	g.chr7:92848596G>A	27364			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=HECA2_HUMAN&rb=31&re=142&var=S83F	NA	getma.org/?cm=var&var=hg19,7,92848596,G,A&fts=all	S83F	--	--	1																																		HEPACAM2_uc003uml.2_Missense_Mutation_p.S71F|HEPACAM2_uc010lff.2_Missense_Mutation_p.S71F|HEPACAM2_uc011khy.1_Missense_Mutation_p.S106F	1,1	1		probably_damaging(0.997)	p.S83F	NM_001039372	NP_001034461		tolerated(0.25)	1,1	HECA2_HUMAN	HEPACAM2	HGNC	A8MVW5	HECA2_HUMAN					2	271	-			UPI000013DA71	83			Extracellular (Potential).		SNV	HEPACAM2,missense_variant,p.Ser83Phe,ENST00000394468,NM_001039372.1;HEPACAM2,missense_variant,p.Ser71Phe,ENST00000341723,NM_198151.1,NM_001288804.1;HEPACAM2,missense_variant,p.Ser71Phe,ENST00000440868,NM_001288810.1;HEPACAM2,missense_variant,p.Ser106Phe,ENST00000453812,;	uc003umm.2	c.248C>T	326/2148	1	1			c.248C>T						7	SNP	c.(247-249)TCT>TTT	51	51			ovary(3)|breast(1)|kidney(1)	5	Broad	HEPACAM family member 2 isoform 1			92848596		0.478	ENSG00000188175	6925	g.chr7:92848596G>A		integral to membrane								79.846174	KEEP	24	14	-1	63	50	24	14	-1	87.117634	63	50	0.257353	1	0	0	0	0	1	0	0	0	--	--		0	A			HEPACAM2_uc003uml.2_Missense_Mutation_p.S71F|HEPACAM2_uc010lff.2_Missense_Mutation_p.S71F|HEPACAM2_uc011khy.1_Missense_Mutation_p.S106F	62	GBM-06-0649-TP	p.S83F	G	CTTATTCACAGAGCCCAGTAA	NM_001039372	NP_001034461	92848596	A8MVW5	HECA2_HUMAN	0			2	271	-	A	A			Missense_Mutation	83			Extracellular (Potential).			
HEPACAM2	0	broad.mit.edu	GRCh37	7	92821587	92821587	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-4210-01	TCGA-32-4210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394468.2:c.1365C>T	p.Ala455=	p.A455=	ENST00000394468	NM_001039372.1	455	gcC/gcT	0			1			A	A	uc003umm.2	protein_coding	YES	CCDS43616.1			1365/1389									ovary(3)|breast(1)|kidney(1)	5	c.(1363-1365)GCC>GCT			hmmpanther:PTHR19955:SF125,hmmpanther:PTHR19955	HEPACAM family member 2 isoform 1				ENSP00000377980		10-Sep									COSM3412485,COSM3412484	10-Sep	.		ENST00000394468	Transcript				integral to membrane		ENSG00000188175	g.chr7:92821587G>A	27364			LOW								--	--	1																																		HEPACAM2_uc003uml.2_Silent_p.A443A|HEPACAM2_uc010lff.2_Missense_Mutation_p.P435L|HEPACAM2_uc011khy.1_Silent_p.A478A	1,1	1			p.A455A	NM_001039372	NP_001034461			1,1	HECA2_HUMAN	HEPACAM2	HGNC	A8MVW5	HECA2_HUMAN					9	1388	-			UPI000013DA71	455			Cytoplasmic (Potential).		SNV	HEPACAM2,missense_variant,p.Pro435Leu,ENST00000440868,NM_001288810.1;HEPACAM2,synonymous_variant,p.=,ENST00000394468,NM_001039372.1;HEPACAM2,synonymous_variant,p.=,ENST00000341723,NM_198151.1,NM_001288804.1;HEPACAM2,synonymous_variant,p.=,ENST00000453812,;HEPACAM2,non_coding_transcript_exon_variant,,ENST00000492616,;	uc003umm.2	c.1365C>T	1443/2148	2	2			c.1365C>T						7	SNP	c.(1363-1365)GCC>GCT	42	42			ovary(3)|breast(1)|kidney(1)	5	Broad	HEPACAM family member 2 isoform 1			92821587		0.453	ENSG00000188175	6925	g.chr7:92821587G>A		integral to membrane								239.463625	KEEP	41	51	-1	89	124	41	51	-1	247.983627	89	124	0.3125	1	0	0	0	0	0	0	1	0	--	--		0	A			HEPACAM2_uc003uml.2_Silent_p.A443A|HEPACAM2_uc010lff.2_Missense_Mutation_p.P435L|HEPACAM2_uc011khy.1_Silent_p.A478A	245	GBM-32-4210-TP	p.A455A	G	CTTGCTGCTGGGCAGGGATGT	NM_001039372	NP_001034461	92821587	A8MVW5	HECA2_HUMAN	0			9	1388	-	A	A			Silent	455			Cytoplasmic (Potential).			
HEPH	9843	broad.mit.edu	GRCh37	X	65486458	65486458	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-2485-01	TCGA-02-2485-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000519389.1:c.3583C>T	p.Arg1195Cys	p.R1195C	ENST00000519389		1195	Cgc/Tgc	0			1			T	R/C	uc011moz.1	protein_coding					3421/3477									lung(5)|ovary(4)	9	c.(3430-3432)CGC>TGC			Low_complexity_(Seg):seg	hephaestin isoform a				ENSP00000343939		20/20	1.65E-05		0.000219						rs781742782,COSM3406528,COSM3406527	20/20	.		ENST00000343002	Transcript			cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	ENSG00000089472	g.chrX:65486458C>T	4866			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=HEPH_HUMAN&rb=1066&re=1158&var=R1141C	NA	getma.org/?cm=var&var=hg19,X,65486458,C,T&fts=all	R1141C	--	--	1																																		HEPH_uc004dwn.2_Missense_Mutation_p.R1143C|HEPH_uc004dwo.2_Missense_Mutation_p.R874C|HEPH_uc010nkr.2_Missense_Mutation_p.R952C|HEPH_uc011mpa.1_Missense_Mutation_p.R1144C	0,1,1			probably_damaging(0.964)	p.R1144C	NM_138737	NP_620074		deleterious_low_confidence(0)	0,1,1	HEPH_HUMAN	HEPH	HGNC	Q9BQS7	HEPH_HUMAN			Q5JZ07_HUMAN,Q1HE23_HUMAN,B4DFV3_HUMAN		21	3490	+			UPI000004D26F	1141			Cytoplasmic (Potential).		SNV	HEPH,missense_variant,p.Arg1195Cys,ENST00000519389,;HEPH,missense_variant,p.Arg1141Cys,ENST00000343002,;HEPH,missense_variant,p.Arg1144Cys,ENST00000374727,NM_138737.3;HEPH,missense_variant,p.Arg1143Cys,ENST00000441993,NM_001130860.2;HEPH,missense_variant,p.Arg874Cys,ENST00000336279,NM_014799.2;HEPH,missense_variant,p.Arg952Cys,ENST00000419594,NM_001282141.1;	uc011moz.1	c.3430C>T	4085/4854	1	1			c.3430C>T						23	SNP	c.(3430-3432)CGC>TGC	4	4			lung(5)|ovary(4)	9	Broad	hephaestin isoform a			65486458		0.498	ENSG00000089472	6926	g.chrX:65486458C>T	cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			386			386	18.913221	KEEP	5	5	-1	28	29	5	5	-1	25.013712	28	29	0.169492	1	0	0	0	0	1	0	0	0	--	--		0	T			HEPH_uc004dwn.2_Missense_Mutation_p.R1143C|HEPH_uc004dwo.2_Missense_Mutation_p.R874C|HEPH_uc010nkr.2_Missense_Mutation_p.R952C|HEPH_uc011mpa.1_Missense_Mutation_p.R1144C	7	GBM-02-2485-TP	p.R1144C	C	AAAGCTACGACGCAATAGGAG	NM_138737	NP_620074	65486458	Q9BQS7	HEPH_HUMAN	0			21	3490	+	T	T			Missense_Mutation	1141			Cytoplasmic (Potential).			
HEPHL1	0	broad.mit.edu	GRCh37	11	93826783	93826783	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-3653-01	TCGA-12-3653-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315765.9:c.2411G>A	p.Arg804Gln	p.R804Q	ENST00000315765	NM_001098672.1	804	cGa/cAa	0			1			A	R/Q	uc001pep.2	protein_coding	YES	CCDS44710.1			2411/3480									ovary(3)	3	c.(2410-2412)CGA>CAA			hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF615,Gene3D:2.60.40.420,Superfamily_domains:SSF49503	hephaestin-like 1 precursor				ENSP00000313699		13/20									COSM933457	13/20	.		ENST00000315765	Transcript			copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	ENSG00000181333	g.chr11:93826783G>A	30477			MODERATE		0.685	neutral	getma.org/?cm=msa&ty=f&p=HPHL1_HUMAN&rb=731&re=907&var=R804Q	getma.org/pdb.php?prot=HPHL1_HUMAN&from=731&to=907&var=R804Q	getma.org/?cm=var&var=hg19,11,93826783,G,A&fts=all	R804Q	--	--	1																																		uc001pen.1_Intron	1	1		benign(0.001)	p.R804Q	NM_001098672	NP_001092142		tolerated(0.32)	1	HPHL1_HUMAN	HEPHL1	HGNC	Q6MZM0	HPHL1_HUMAN					13	2568	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	UPI0000237563	804			Plastocyanin-like 5.|Extracellular (Potential).		SNV	HEPHL1,missense_variant,p.Arg804Gln,ENST00000315765,NM_001098672.1;	uc001pep.2	c.2411G>A	2419/5345	2	2			c.2411G>A						11	SNP	c.(2410-2412)CGA>CAA	18	18			ovary(3)	3	Broad	hephaestin-like 1 precursor			93826783		0.483	ENSG00000181333	6927	g.chr11:93826783G>A	copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity							263.861713	KEEP	44	38	-1	18	21	44	38	-1	267.238635	18	21	0.681034	1	0	0	0	0	1	0	0	0	--	--		0	A			uc001pen.1_Intron	128	GBM-12-3653-TP	p.R804Q	G	CGACCACCACGAGAGGAGCAC	NM_001098672	NP_001092142	93826783	Q6MZM0	HPHL1_HUMAN	0			13	2568	+	A	A		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	Missense_Mutation	804			Plastocyanin-like 5.|Extracellular (Potential).			
HEPHL1	0	broad.mit.edu	GRCh37	11	93844970	93844970	+	synonymous_variant	Silent	SNP	G	G	A	rs118037969	by1000genomes	TCGA-15-1444-01	TCGA-15-1444-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315765.9:c.3390G>A	p.Thr1130=	p.T1130=	ENST00000315765	NM_001098672.1	1130	acG/acA	0	A:0.0015	A:0.0008	1	A:0.0043		A	T	uc001pep.2	protein_coding	YES	CCDS44710.1			3390/3480									ovary(3)	3	c.(3388-3390)ACG>ACA			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	hephaestin-like 1 precursor		A:0	A:0.0089	ENSP00000313699	A:0.005	20/20	0.00643	0.00148	0.00349		0.00363	0.0107	0.00884	0.000207	rs118037969,COSM3747905	20/20	common_variant		ENST00000315765	Transcript		A:0.0018	copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	ENSG00000181333	g.chr11:93844970G>A	30477			LOW								--	--	1																																		uc001pen.1_Intron	0,1	1			p.T1130T	NM_001098672	NP_001092142	A:0		0,1	HPHL1_HUMAN	HEPHL1	HGNC	Q6MZM0	HPHL1_HUMAN					20	3547	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	UPI0000237563	1130			Helical; (Potential).		SNV	HEPHL1,synonymous_variant,p.=,ENST00000315765,NM_001098672.1;	uc001pep.2	c.3390G>A	3398/5345	2	2			c.3390G>A						11	SNP	c.(3388-3390)ACG>ACA	30	30			ovary(3)	3	Broad	hephaestin-like 1 precursor			93844970		0.507	ENSG00000181333	6927	g.chr11:93844970G>A	copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity							4.171522	KEEP	5	5	-1	47	68	5	5	-1	24.022201	47	68	0.086957	1	0	0	0	0	0	0	1	0	--	--		0	A			uc001pen.1_Intron	154	GBM-15-1444-TP	p.T1130T	G	TAATCACCACGGTGATTCTCT	NM_001098672	NP_001092142	93844970	Q6MZM0	HPHL1_HUMAN	0			20	3547	+	A	A		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	Silent	1130			Helical; (Potential).			
HEPHL1	0	broad.mit.edu	GRCh37	11	93803618	93803618	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5216-01	TCGA-28-5216-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315765.9:c.1142G>A	p.Arg381His	p.R381H	ENST00000315765	NM_001098672.1	381	cGc/cAc	0	A:0		1			A	R/H	uc001pep.2	protein_coding	YES	CCDS44710.1			1142/3480									ovary(3)	3	c.(1141-1143)CGC>CAC			hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF615,Gene3D:2.60.40.420,Superfamily_domains:SSF49503	hephaestin-like 1 precursor			A:0.0005	ENSP00000313699		20-Jun	0.000149					0.000366		0.000174	rs200398960,COSM3398211	20-Jun	.		ENST00000315765	Transcript			copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	ENSG00000181333	g.chr11:93803618G>A	30477			MODERATE		0.325	neutral	getma.org/?cm=msa&ty=f&p=HPHL1_HUMAN&rb=379&re=561&var=R381H	getma.org/pdb.php?prot=HPHL1_HUMAN&from=379&to=561&var=R381H	getma.org/?cm=var&var=hg19,11,93803618,G,A&fts=all	R381H	--	--	1																																		uc001pen.1_Intron	0,1	1		benign(0.001)	p.R381H	NM_001098672	NP_001092142		tolerated(1)	0,1	HPHL1_HUMAN	HEPHL1	HGNC	Q6MZM0	HPHL1_HUMAN					6	1299	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	UPI0000237563	381			Plastocyanin-like 3.|Extracellular (Potential).		SNV	HEPHL1,missense_variant,p.Arg381His,ENST00000315765,NM_001098672.1;	uc001pep.2	c.1142G>A	1150/5345	1	1			c.1142G>A						11	SNP	c.(1141-1143)CGC>CAC	62	62			ovary(3)	3	Broad	hephaestin-like 1 precursor			93803618		0.443	ENSG00000181333	6927	g.chr11:93803618G>A	copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity							42.01934	KEEP	12	4	-1	9	11	12	4	-1	42.078894	9	11	0.454545	1	0	0	0	0	1	0	0	0	--	--		0	A			uc001pen.1_Intron	223	GBM-28-5216-TP	p.R381H	G	CAACAGAGGCGCTACTTTATA	NM_001098672	NP_001092142	93803618	Q6MZM0	HPHL1_HUMAN	0			6	1299	+	A	A		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	Missense_Mutation	381			Plastocyanin-like 3.|Extracellular (Potential).			
HEPHL1	0	broad.mit.edu	GRCh37	11	93839268	93839268	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-2491-01	TCGA-32-2491-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315765.9:c.3017A>G	p.His1006Arg	p.H1006R	ENST00000315765	NM_001098672.1	1006	cAt/cGt	0			1			G	H/R	uc001pep.2	protein_coding	YES	CCDS44710.1			3017/3480									ovary(3)	3	c.(3016-3018)CAT>CGT			hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF615,Pfam_domain:PF07731,Gene3D:2.60.40.420,Superfamily_domains:SSF49503	hephaestin-like 1 precursor				ENSP00000313699		17/20									COSM3398213	17/20	.		ENST00000315765	Transcript			copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	ENSG00000181333	g.chr11:93839268A>G	30477			MODERATE		4.195	high	getma.org/?cm=msa&ty=f&p=HPHL1_HUMAN&rb=947&re=1068&var=H1006R	getma.org/pdb.php?prot=HPHL1_HUMAN&from=947&to=1068&var=H1006R	getma.org/?cm=var&var=hg19,11,93839268,A,G&fts=all	H1006R	--	--	1																																		uc001pen.1_Intron	1	1		probably_damaging(1)	p.H1006R	NM_001098672	NP_001092142		deleterious(0)	1	HPHL1_HUMAN	HEPHL1	HGNC	Q6MZM0	HPHL1_HUMAN					17	3174	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	UPI0000237563	1006			Extracellular (Potential).|Plastocyanin-like 6.	Copper 1; type 2 (By similarity).	SNV	HEPHL1,missense_variant,p.His1006Arg,ENST00000315765,NM_001098672.1;	uc001pep.2	c.3017A>G	3025/5345	3	3			c.3017A>G						11	SNP	c.(3016-3018)CAT>CGT	2	2			ovary(3)	3	Broad	hephaestin-like 1 precursor			93839268		0.353	ENSG00000181333	6927	g.chr11:93839268A>G	copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity							41.530823	KEEP	8	12	-1	37	41	8	12	-1	47.642239	37	41	0.2125	1	0	0	0	0	1	0	0	0	--	--		0	G			uc001pen.1_Intron	235	GBM-32-2491-TP	p.H1006R	A	CATACCATCCATTATCATGCT	NM_001098672	NP_001092142	93839268	Q6MZM0	HPHL1_HUMAN	0			17	3174	+	G	G		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	Missense_Mutation	1006			Extracellular (Potential).|Plastocyanin-like 6.	Copper 1; type 2 (By similarity).		
HEPHL1	0	broad.mit.edu	GRCh37	11	93778980	93778980	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315765.9:c.312G>A	p.Leu104=	p.L104=	ENST00000315765	NM_001098672.1	104	ttG/ttA	0			1			A	L	uc001pep.2	protein_coding	YES	CCDS44710.1			312/3480									ovary(3)	3	c.(310-312)TTG>TTA			hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF615,Pfam_domain:PF07732,Gene3D:2.60.40.420,Superfamily_domains:SSF49503	hephaestin-like 1 precursor				ENSP00000313699		20-Feb									COSM415693	20-Feb	.		ENST00000315765	Transcript			copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	ENSG00000181333	g.chr11:93778980G>A	30477			LOW								--	--	1																																			1	1			p.L104L	NM_001098672	NP_001092142			1	HPHL1_HUMAN	HEPHL1	HGNC	Q6MZM0	HPHL1_HUMAN					2	469	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	UPI0000237563	104			Plastocyanin-like 1.|Extracellular (Potential).		SNV	HEPHL1,synonymous_variant,p.=,ENST00000315765,NM_001098672.1;	uc001pep.2	c.312G>A	320/5345	2	2			c.312G>A						11	SNP	c.(310-312)TTG>TTA	24	24			ovary(3)	3	Broad	hephaestin-like 1 precursor			93778980		0.468	ENSG00000181333	6927	g.chr11:93778980G>A	copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity							116.615994	KEEP	17	25	-1	22	23	17	25	-1	116.618863	22	23	0.493671	1	0	0	0	0	0	0	1	0	--	--		0	A				270	GBM-76-4931-TP	p.L104L	G	GCCCCATCTTGAGGGCCGAAG	NM_001098672	NP_001092142	93778980	Q6MZM0	HPHL1_HUMAN	0			2	469	+	A	A		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	Silent	104			Plastocyanin-like 1.|Extracellular (Potential).			
HEPHL1	341208		GRCh37	11	93808410	93808410	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000315765.9:c.1575C>T	p.Ser525=	p.S525=	ENST00000315765	NM_001098672.1	525	agC/agT	0																																																																																																																																																																																																																																												
HERC1	8925	broad.mit.edu	GRCh37	15	63948072	63948072	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01	TCGA-06-2558-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000443617.2:c.9953G>A	p.Arg3318Gln	p.R3318Q	ENST00000443617	NM_003922.3	3318	cGa/cAa	0			1			T	R/Q	uc002amp.2	protein_coding	YES	CCDS45277.1			9953/14586									ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19	c.(9952-9954)CGA>CAA			hmmpanther:PTHR22870:SF156,hmmpanther:PTHR22870	hect domain and RCC1-like domain 1				ENSP00000390158		50/78									COSM3401864,COSM3401863	50/78	.		ENST00000443617	Transcript			protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	ENSG00000103657	g.chr15:63948072C>T	4867			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=HERC1_HUMAN&rb=2736&re=3397&var=R3318Q	NA	getma.org/?cm=var&var=hg19,15,63948072,C,T&fts=all	R3318Q	--	--	1																																			1,1	1		probably_damaging(0.99)	p.R3318Q	NM_003922	NP_003913			1,1	HERC1_HUMAN	HERC1	HGNC	Q15751	HERC1_HUMAN			H0YL74_HUMAN,H0YL07_HUMAN,H0YKW7_HUMAN		50	10101	-			UPI0000212760	3318					SNV	HERC1,missense_variant,p.Arg3318Gln,ENST00000443617,NM_003922.3;	uc002amp.2	c.9953G>A	10041/15137	2	2			c.9953G>A						15	SNP	c.(9952-9954)CGA>CAA	45	45			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19	Broad	hect domain and RCC1-like domain 1			63948072		0.448	ENSG00000103657	6929	g.chr15:63948072C>T	protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity							61.163294	KEEP	6	15	-1	2	1	6	15	-1	63.743857	2	1	0.857143	1	0	0	0	0	1	0	0	0	--	--		0	T				82	GBM-06-2558-TP	p.R3318Q	C	AGCAATTCCTCGGAGAAAGCT	NM_003922	NP_003913	63948072	Q15751	HERC1_HUMAN	0			50	10101	-	T	T			Missense_Mutation	3318						
HERC2	8924	broad.mit.edu	GRCh37	15	28518115	28518115	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0214-01	TCGA-06-0214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261609.7:c.836del	p.Gly279GlufsTer25	p.G279Efs*25	ENST00000261609	NM_004667.5	279	gGa/ga	0			1			-	G/X	uc001zbj.2	protein_coding	YES	CCDS10021.1			836/14505									ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13	c.(835-837)GGAfs			hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308	hect domain and RLD 2				ENSP00000261609		Aug-93	0.171	0.173	0.224	0.176	0.193	0.16	0.181	0.166	rs756835034,COSM236299	Aug-93	common_variant		ENST00000261609	Transcript	1		DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000128731	g.chr15:28518115delC	4868			HIGH								--	--	1																																		HERC2_uc001zbl.1_5'UTR	0,1	1			p.G279fs	NM_004667	NP_004658			0,1	HERC2_HUMAN	HERC2	HGNC	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)			8	942	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	UPI00004578F7	279					deletion	HERC2,frameshift_variant,p.Gly279GlufsTer25,ENST00000261609,NM_004667.5;HERC2,3_prime_UTR_variant,,ENST00000564734,;HERC2,non_coding_transcript_exon_variant,,ENST00000563670,;	uc001zbj.2	c.836delG	945/15337	5	5			c.836delG						15	DEL	c.(835-837)GGAfs	33	33			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13	Broad	hect domain and RLD 2			28518115		0.592	ENSG00000128731	6930	g.chr15:28518115delC	DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			1580			1580														0.05	1	1	0	1	0	0	0	0	0	--	--		0	-			HERC2_uc001zbl.1_5'UTR	50	GBM-06-0214-TP	p.G279fs	C	GGGGATGCTTCCTGGCCCTTT	NM_004667	NP_004658	28518115	O95714	HERC2_HUMAN	0		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	8	942	-	-	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	Frame_Shift_Del	279						
HERC2	0	broad.mit.edu	GRCh37	15	28389261	28389261	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5218-01	TCGA-28-5218-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261609.7:c.11261C>T	p.Ala3754Val	p.A3754V	ENST00000261609	NM_004667.5	3754	gCg/gTg	0		A:0	1	A:0		A	A/V	uc001zbj.2	protein_coding	YES	CCDS10021.1			11261/14505									ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13	c.(11260-11262)GCG>GTG			hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308,Low_complexity_(Seg):seg	hect domain and RLD 2		A:0		ENSP00000261609	A:0	73/93	1.65E-05					1.50E-05		6.06E-05	rs575646071,COSM433663	73/93	.		ENST00000261609	Transcript	1	A:0.0002	DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000128731	g.chr15:28389261G>A	4868			MODERATE		1.4	low	getma.org/?cm=msa&ty=f&p=HERC2_HUMAN&rb=3725&re=3924&var=A3754V	NA	getma.org/?cm=var&var=hg19,15,28389261,G,A&fts=all	A3754V	--	--	1																																			0,1	1		benign(0.367)	p.A3754V	NM_004667	NP_004658	A:0.001		0,1	HERC2_HUMAN	HERC2	HGNC	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)			73	11367	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	UPI00004578F7	3754					SNV	HERC2,missense_variant,p.Ala3754Val,ENST00000261609,NM_004667.5;HERC2,upstream_gene_variant,,ENST00000564519,;	uc001zbj.2	c.11261C>T	11370/15337	2	2			c.11261C>T						15	SNP	c.(11260-11262)GCG>GTG	35	35			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13	Broad	hect domain and RLD 2			28389261		0.537	ENSG00000128731	6930	g.chr15:28389261G>A	DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			1580			1580	-40.922731	KEEP	3	4	-1	103	127	3	4	-1	9.323307	103	127	0.029126	1	0	0	0	0	1	0	0	0	--	--		0	A				224	GBM-28-5218-TP	p.A3754V	G	CAGCGAGGCCGCAAGGCGAGG	NM_004667	NP_004658	28389261	O95714	HERC2_HUMAN	0		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	73	11367	-	A	A		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	Missense_Mutation	3754						
HERC2	0	broad.mit.edu	GRCh37	15	28474893	28474893	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-4208-01	TCGA-32-4208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261609.7:c.4910G>T	p.Ser1637Ile	p.S1637I	ENST00000261609	NM_004667.5	1637	aGt/aTt	0			1			A	S/I	uc001zbj.2	protein_coding	YES	CCDS10021.1			4910/14505									ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13	c.(4909-4911)AGT>ATT			hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308	hect domain and RLD 2				ENSP00000261609		32/93									COSM3401661	32/93	.		ENST00000261609	Transcript	1		DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000128731	g.chr15:28474893C>A	4868			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=HERC2_HUMAN&rb=1484&re=1683&var=S1637I	NA	getma.org/?cm=var&var=hg19,15,28474893,C,A&fts=all	S1637I	--	--	1																																			1	1		benign(0.001)	p.S1637I	NM_004667	NP_004658			1	HERC2_HUMAN	HERC2	HGNC	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)			32	5016	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	UPI00004578F7	1637					SNV	HERC2,missense_variant,p.Ser1637Ile,ENST00000261609,NM_004667.5;HERC2,upstream_gene_variant,,ENST00000569335,;	uc001zbj.2	c.4910G>T	5019/15337	2	2			c.4910G>T						15	SNP	c.(4909-4911)AGT>ATT	43	43			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13	Broad	hect domain and RLD 2			28474893		0.428	ENSG00000128731	6930	g.chr15:28474893C>A	DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			1580			1580	-71.101312	KEEP	9	5	0.357142857	298	402	9	5	0.357142857	13.342348	298	402	0.023881	1	0	0	0	0	1	0	0	0	--	--		0	A				243	GBM-32-4208-TP	p.S1637I	C	AGCAATTGTACTGAGGAGTGG	NM_004667	NP_004658	28474893	O95714	HERC2_HUMAN	0		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	32	5016	-	A	A		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	Missense_Mutation	1637						
HERC2	0	broad.mit.edu	GRCh37	15	28514552	28514553	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C			TCGA-41-3392-01	TCGA-41-3392-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261609.7:c.1287dupG	p.Leu430ValfsTer49	p.L430Vfs*49	ENST00000261609	NM_004667.5	429	-/G	0			1			C	-/X	uc001zbj.2	protein_coding	YES	CCDS10021.1			1287-1288/14505									ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13	c.(1285-1290)GGGTTAfs			hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308,Superfamily_domains:SSF50985	hect domain and RLD 2				ENSP00000261609		Nov-93										Nov-93	.		ENST00000261609	Transcript	1		DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000128731	g.chr15:28514552_28514553insC	4868			HIGH								--	--	1																																		HERC2_uc001zbl.1_Frame_Shift_Ins_p.G124fs		1			p.G429fs	NM_004667	NP_004658				HERC2_HUMAN	HERC2	HGNC	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)			11	1393_1394	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	UPI00004578F7	429_430					insertion	HERC2,frameshift_variant,p.Leu430ValfsTer49,ENST00000261609,NM_004667.5;HERC2,3_prime_UTR_variant,,ENST00000564734,;HERC2,downstream_gene_variant,,ENST00000563670,;	uc001zbj.2	c.1287_1288insG	1396-1397/15337	5	5			c.1287_1288insG						15	INS	c.(1285-1290)GGGTTAfs	54	54			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13	Broad	hect domain and RLD 2			28514553		0.436	ENSG00000128731	6930	g.chr15:28514552_28514553insC	DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			1580			1580														0.76	1	0	0	1	1	0	0	0	0	--	--		0	C			HERC2_uc001zbl.1_Frame_Shift_Ins_p.G124fs	254	GBM-41-3392-TP	p.G429fs	-	CATCCTATTAACCCCCAACCTA	NM_004667	NP_004658	28514552	O95714	HERC2_HUMAN	0		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	11	1393_1394	-	C	C		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	Frame_Shift_Ins	429_430						
HERPUD1	0	broad.mit.edu	GRCh37	16	56970643	56970643	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-4935-01	TCGA-76-4935-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000439977.2:c.345G>C	p.Gln115His	p.Q115H	ENST00000439977	NM_014685.3	115	caG/caC	0			1			C	Q/H	uc002eke.1	protein_coding	YES	CCDS10771.1			345/1176	T		ERG		prostate					0	c.(343-345)CAG>CAC			hmmpanther:PTHR12943,hmmpanther:PTHR12943:SF7	homocysteine-inducible, endoplasmic reticulum				ENSP00000409555		8-Apr									COSM3402379	8-Apr	.		ENST00000439977	Transcript				endoplasmic reticulum membrane|integral to membrane	protein binding	ENSG00000051108	g.chr16:56970643G>C	13744			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=HERP1_HUMAN&rb=90&re=289&var=Q115H	NA	getma.org/?cm=var&var=hg19,16,56970643,G,C&fts=all	Q115H	--	--	1																																		HERPUD1_uc010vhj.1_Missense_Mutation_p.Q176H|HERPUD1_uc002ekf.1_Missense_Mutation_p.Q114H|HERPUD1_uc002ekg.1_Missense_Mutation_p.Q90H|HERPUD1_uc010cco.1_Missense_Mutation_p.Q176H|HERPUD1_uc010ccp.1_Missense_Mutation_p.Q175H|HERPUD1_uc002ekh.1_5'UTR	1	1		benign(0.022)	p.Q115H	NM_014685	NP_055500		tolerated(0.47)	1	HERP1_HUMAN	HERPUD1	HGNC	Q15011	HERP1_HUMAN			Q9HBR2_HUMAN,B4E3N8_HUMAN		4	754	+			UPI0000000B03	115			Cytoplasmic (Potential).		SNV	HERPUD1,missense_variant,p.Gln115His,ENST00000439977,NM_014685.3,NM_001272103.1,NM_001010989.2;HERPUD1,missense_variant,p.Gln114His,ENST00000300302,;HERPUD1,missense_variant,p.Gln90His,ENST00000379792,;HERPUD1,missense_variant,p.Gln114His,ENST00000344114,;HERPUD1,missense_variant,p.Gln3His,ENST00000563911,;HERPUD1,missense_variant,p.Gln40His,ENST00000568358,;HERPUD1,missense_variant,p.Gln73His,ENST00000563343,;HERPUD1,missense_variant,p.Gln48His,ENST00000569429,;HERPUD1,upstream_gene_variant,,ENST00000568651,;RP11-325K4.2,upstream_gene_variant,,ENST00000570210,;RP11-325K4.3,upstream_gene_variant,,ENST00000565861,;HERPUD1,non_coding_transcript_exon_variant,,ENST00000570273,;HERPUD1,non_coding_transcript_exon_variant,,ENST00000563781,;HERPUD1,3_prime_UTR_variant,,ENST00000565966,;HERPUD1,non_coding_transcript_exon_variant,,ENST00000564678,;HERPUD1,non_coding_transcript_exon_variant,,ENST00000569569,;HERPUD1,downstream_gene_variant,,ENST00000568676,;HERPUD1,downstream_gene_variant,,ENST00000562914,;HERPUD1,downstream_gene_variant,,ENST00000566550,;HERPUD1,upstream_gene_variant,,ENST00000567944,;	uc002eke.1	c.345G>C	542/1964	3	3			c.345G>C	T		ERG		prostate	16	SNP	c.(343-345)CAG>CAC	55	55				0	Broad	homocysteine-inducible, endoplasmic reticulum			56970643		0.448	ENSG00000051108	6935	g.chr16:56970643G>C		endoplasmic reticulum membrane|integral to membrane	protein binding							269.678689	KEEP	34	46	-1	54	56	34	46	-1	270.447461	54	56	0.429379	1	0	0	0	0	1	0	0	0	--	--		0	C			HERPUD1_uc010vhj.1_Missense_Mutation_p.Q176H|HERPUD1_uc002ekf.1_Missense_Mutation_p.Q114H|HERPUD1_uc002ekg.1_Missense_Mutation_p.Q90H|HERPUD1_uc010cco.1_Missense_Mutation_p.Q176H|HERPUD1_uc010ccp.1_Missense_Mutation_p.Q175H|HERPUD1_uc002ekh.1_5'UTR	273	GBM-76-4935-TP	p.Q115H	G	ATCGGGGACAGTATCCTGAGG	NM_014685	NP_055500	56970643	Q15011	HERP1_HUMAN	0			4	754	+	C	C			Missense_Mutation	115			Cytoplasmic (Potential).			
HES1	0	broad.mit.edu	GRCh37	3	193855643	193855643	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-19-2624-01	TCGA-19-2624-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000232424.3:c.464A>C	p.Tyr155Ser	p.Y155S	ENST00000232424	NM_005524.3	155	tAc/tCc	0			1			C	Y/S	uc003ftq.1	protein_coding	YES	CCDS3305.1			464/843									ovary(1)|lung(1)	2	c.(463-465)TAC>TCC			hmmpanther:PTHR10985,hmmpanther:PTHR10985:SF19	hairy and enhancer of split 1				ENSP00000232424		4-Apr	4.96E-05				0.000641	1.61E-05			rs770004050,COSM3748224	4-Apr	common_variant		ENST00000232424	Transcript			endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity	ENSG00000114315	g.chr3:193855643A>C	5192			MODERATE		1.24	low	getma.org/?cm=msa&ty=f&p=HES1_HUMAN&rb=151&re=280&var=Y155S	NA	getma.org/?cm=var&var=hg19,3,193855643,A,C&fts=all	Y155S	--	--	1																																			0,1	1		benign(0.068)	p.Y155S	NM_005524	NP_005515		tolerated(0.13)	0,1	HES1_HUMAN	HES1	HGNC	Q14469	HES1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)	Q8IXV0_HUMAN		4	700	+	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		UPI0000037B01	155					SNV	HES1,missense_variant,p.Tyr155Ser,ENST00000232424,NM_005524.3;HES1,downstream_gene_variant,,ENST00000476918,;	uc003ftq.1	c.464A>C	700/1578	3	3			c.464A>C						3	SNP	c.(463-465)TAC>TCC	59	59			ovary(1)|lung(1)	2	Broad	hairy and enhancer of split 1			193855643		0.731	ENSG00000114315	6937	g.chr3:193855643A>C	endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity							2.722108	KEEP	9	10	-1	18	26	9	10	-1	8.543176	18	26	0.16	1	0	0	0	0	1	0	0	0	--	--		0	C				164	GBM-19-2624-TP	p.Y155S	A	GCCATGACCTACCCCGGGCAG	NM_005524	NP_005515	193855643	Q14469	HES1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)	4	700	+	C	C	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		Missense_Mutation	155						
HEXA	3073	broad.mit.edu	GRCh37	15	72645470	72645470	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121907957		TCGA-06-0210-01	TCGA-06-0210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268097.5:c.509G>A	p.Arg170Gln	p.R170Q	ENST00000268097	NM_000520.4	170	cGg/cAg	0			1			T	R/Q	uc002aun.3	protein_coding	YES	CCDS10243.1			509/1590						pathogenic			ovary(3)|upper_aerodigestive_tract(1)	4	c.(508-510)CGG>CAG			Prints_domain:PR00738,Superfamily_domains:SSF51445,PIRSF_domain:PIRSF001093,Gene3D:3.20.20.80,Pfam_domain:PF00728,hmmpanther:PTHR22600,hmmpanther:PTHR22600:SF7	hexosaminidase A preproprotein				ENSP00000268097		14-May									rs121907957,COSM3401904	14-May	.		ENST00000268097	Transcript	1		cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity	ENSG00000213614	g.chr15:72645470C>T	4878			MODERATE		4.865	high	getma.org/?cm=msa&ty=f&p=HEXA_HUMAN&rb=167&re=488&var=R170Q	getma.org/pdb.php?prot=HEXA_HUMAN&from=167&to=488&var=R170Q	getma.org/?cm=var&var=hg19,15,72645470,C,T&fts=all	R170Q	--	--	1																																		CELF6_uc002auk.3_Intron|HEXA_uc010ukn.1_Missense_Mutation_p.R181Q|HEXA_uc002auo.3_Missense_Mutation_p.R33Q|HEXA_uc010bix.2_Missense_Mutation_p.R170Q|HEXA_uc010biy.2_Missense_Mutation_p.R33Q|HEXA_uc010uko.1_Intron|HEXA_uc010biz.1_RNA	1,1	1		probably_damaging(1)	p.R170Q	NM_000520	NP_000511		deleterious(0)	0,1	HEXA_HUMAN	HEXA	HGNC	P06865	HEXA_HUMAN			H3BS10_HUMAN,G3XL83_HUMAN		5	716	-			UPI000013D798	170		R -> W (in GM2G1; infantile).|R -> Q (in GM2G1; infantile; inactive or unstable protein).			SNV	HEXA,missense_variant,p.Arg170Gln,ENST00000268097,NM_000520.4;HEXA,missense_variant,p.Arg181Gln,ENST00000566304,;HEXA,missense_variant,p.Arg170Gln,ENST00000567159,;HEXA,5_prime_UTR_variant,,ENST00000457859,;HEXA,intron_variant,,ENST00000429918,;RP11-106M3.3,downstream_gene_variant,,ENST00000570175,;RP11-106M3.2,intron_variant,,ENST00000379915,;HEXA,intron_variant,,ENST00000569509,;HEXA,missense_variant,p.Arg128Gln,ENST00000567027,;HEXA,missense_variant,p.Arg170Gln,ENST00000569410,;HEXA,3_prime_UTR_variant,,ENST00000567411,;HEXA,3_prime_UTR_variant,,ENST00000568260,;HEXA,non_coding_transcript_exon_variant,,ENST00000568777,;HEXA,intron_variant,,ENST00000566672,;HEXA,intron_variant,,ENST00000563762,;HEXA,downstream_gene_variant,,ENST00000563908,;	uc002aun.3	c.509G>A	1013/2737	1	1			c.509G>A						15	SNP	c.(508-510)CGG>CAG	12	12			ovary(3)|upper_aerodigestive_tract(1)	4	Broad	hexosaminidase A preproprotein			72645470		0.468	ENSG00000213614	6944	g.chr15:72645470C>T	cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity							30.178398	KEEP	7	9	-1	33	42	7	9	-1	38.34385	33	42	0.178571	1	0	0	0	0	1	0	0	0	--	--		0	T			CELF6_uc002auk.3_Intron|HEXA_uc010ukn.1_Missense_Mutation_p.R181Q|HEXA_uc002auo.3_Missense_Mutation_p.R33Q|HEXA_uc010bix.2_Missense_Mutation_p.R170Q|HEXA_uc010biy.2_Missense_Mutation_p.R33Q|HEXA_uc010uko.1_Intron|HEXA_uc010biz.1_RNA	47	GBM-06-0210-TP	p.R170Q	C	CAGCAAGCCCCGGTGAGGAAA	NM_000520	NP_000511	72645470	P06865	HEXA_HUMAN	0			5	716	-	T	T			Missense_Mutation	170		R -> W (in GM2G1; infantile).|R -> Q (in GM2G1; infantile; inactive or unstable protein).				
HEXIM1	0	broad.mit.edu	GRCh37	17	43226653	43226653	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-28-1747-01	TCGA-28-1747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332499.2:c.101delC	p.Pro34GlnfsTer52	p.P34Qfs*52	ENST00000332499	NM_006460.2	32	cgC/cg	0			1			-	R/X	uc002iig.2	protein_coding	YES	CCDS11495.1			96/1080									ovary(1)	1	c.(94-96)CGCfs			hmmpanther:PTHR13469,hmmpanther:PTHR13469:SF7	hexamethylene bis-acetamide inducible 1				ENSP00000328773		1-Jan										1-Jan	.		ENST00000332499	Transcript			negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding	ENSG00000186834	g.chr17:43226653delC	24953	5		HIGH								--	--	1																																OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)			1			p.R32fs	NM_006460	NP_006451				HEXI1_HUMAN	HEXIM1	HGNC	O94992	HEXI1_HUMAN					1	1970	+			UPI000006E405	32					deletion	HEXIM1,frameshift_variant,p.Pro34GlnfsTer52,ENST00000332499,NM_006460.2;AC002117.1,downstream_gene_variant,,ENST00000589950,;AC002117.1,downstream_gene_variant,,ENST00000452741,;	uc002iig.2	c.96delC	1970/4785	5	5			c.96delC						17	DEL	c.(94-96)CGCfs	27	27			ovary(1)	1	Broad	hexamethylene bis-acetamide inducible 1			43226653		0.632	ENSG00000186834	6947	g.chr17:43226653delC	negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding																				0.35	1	1	0	1	0	0	0	0	0	--	--		0	-	OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		206	GBM-28-1747-TP	p.R32fs	C	ACCCTGAGCGCCCCCCAGGCG	NM_006460	NP_006451	43226653	O94992	HEXI1_HUMAN	0			1	1970	+	-	-			Frame_Shift_Del	32						
HEXIM2	124790	broad.mit.edu	GRCh37	17	43246862	43246862	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0126-01	TCGA-06-0126-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307275.3:c.547C>T	p.Arg183Ter	p.R183*	ENST00000307275	NM_144608.1	183	Cga/Tga	0			1			T	R/*	uc002iih.1	protein_coding	YES	CCDS11496.1			547/861										0	c.(547-549)CGA>TGA			Pfam_domain:PF15313,hmmpanther:PTHR13469,hmmpanther:PTHR13469:SF3	hexamthylene bis-acetamide inducible 2				ENSP00000302276		4-Apr									COSM2149430	4-Apr	.		ENST00000307275	Transcript			negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding	ENSG00000168517	g.chr17:43246862C>T	28591			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,17,43246862,C,T&fts=all	R183*	--	--	1																																		HEXIM2_uc010daf.1_Nonsense_Mutation_p.R205*|HEXIM2_uc002iii.1_Nonsense_Mutation_p.R183*|HEXIM2_uc002iij.1_Nonsense_Mutation_p.R183*|uc002iik.1_RNA	1	1			p.R183*	NM_144608	NP_653209			1	HEXI2_HUMAN	HEXIM2	HGNC	Q96MH2	HEXI2_HUMAN			K7ESM2_HUMAN,K7ELS4_HUMAN,K7EJA3_HUMAN,K7EIM4_HUMAN		4	786	+			UPI00000730EA	183					SNV	HEXIM2,stop_gained,p.Arg183Ter,ENST00000307275,NM_144608.1;HEXIM2,stop_gained,p.Arg183Ter,ENST00000592695,;HEXIM2,stop_gained,p.Arg183Ter,ENST00000591576,;HEXIM2,downstream_gene_variant,,ENST00000585340,;HEXIM2,downstream_gene_variant,,ENST00000589230,;HEXIM2,downstream_gene_variant,,ENST00000586681,;HEXIM2,downstream_gene_variant,,ENST00000593138,;HEXIM2,downstream_gene_variant,,ENST00000591070,;RP13-890H12.2,non_coding_transcript_exon_variant,,ENST00000589796,;RP13-890H12.2,downstream_gene_variant,,ENST00000589451,;	uc002iih.1	c.547C>T	983/1528	5	2			c.547C>T						17	SNP	c.(547-549)CGA>TGA	22	22				0	Broad	hexamthylene bis-acetamide inducible 2			43246862		0.647	ENSG00000168517	6948	g.chr17:43246862C>T	negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding							31.416367	KEEP	9	3	-1	13	10	9	3	-1	32.105932	13	10	0.34375	1	0	0	0	0	0	1	0	0	--	--		0	T			HEXIM2_uc010daf.1_Nonsense_Mutation_p.R205*|HEXIM2_uc002iii.1_Nonsense_Mutation_p.R183*|HEXIM2_uc002iij.1_Nonsense_Mutation_p.R183*|uc002iik.1_RNA	13	GBM-06-0126-TP	p.R183*	C	TGGGCGGGGCCGAGCGCACGG	NM_144608	NP_653209	43246862	Q96MH2	HEXI2_HUMAN	0			4	786	+	T	T			Nonsense_Mutation	183						
HEY2	0	broad.mit.edu	GRCh37	6	126080793	126080793	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01	TCGA-26-5132-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368364.3:c.859C>T	p.Pro287Ser	p.P287S	ENST00000368364	NM_012259.2	287	Ccc/Tcc	0			1			T	P/S	uc003qad.2	protein_coding	YES	CCDS5131.1			859/1014									breast(1)	1	c.(859-861)CCC>TCC			hmmpanther:PTHR10985,hmmpanther:PTHR10985:SF79	hairy/enhancer-of-split related with YRPW motif				ENSP00000357348		5-May									COSM2156933	5-May	.		ENST00000368364	Transcript			negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	ENSG00000135547	g.chr6:126080793C>T	4881			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=HEY2_HUMAN&rb=165&re=337&var=P287S	NA	getma.org/?cm=var&var=hg19,6,126080793,C,T&fts=all	P287S	--	--	1																																		HEY2_uc011ebr.1_Missense_Mutation_p.P241S	1	1		possibly_damaging(0.87)	p.P287S	NM_012259	NP_036391		tolerated(0.24)	1	HEY2_HUMAN	HEY2	HGNC	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	Q5TF93_HUMAN,B4E1L3_HUMAN		5	1050	+			UPI0000037AFE	287			Ala-rich.		SNV	HEY2,missense_variant,p.Pro287Ser,ENST00000368364,NM_012259.2;HEY2,missense_variant,p.Pro241Ser,ENST00000368365,;	uc003qad.2	c.859C>T	1056/2678	1	1			c.859C>T						6	SNP	c.(859-861)CCC>TCC	4	4			breast(1)	1	Broad	hairy/enhancer-of-split related with YRPW motif			126080793		0.667	ENSG00000135547	6950	g.chr6:126080793C>T	negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding							334.613582	KEEP	60	75	-1	113	127	60	75	-1	341.07948	113	127	0.352239	1	0	0	0	0	1	0	0	0	--	--		0	T			HEY2_uc011ebr.1_Missense_Mutation_p.P241S	181	GBM-26-5132-TP	p.P287S	C	GGGGGCATTCCCCATGCTTCC	NM_012259	NP_036391	126080793	Q9UBP5	HEY2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	5	1050	+	T	T			Missense_Mutation	287			Ala-rich.			
HEY2	0	broad.mit.edu	GRCh37	6	126080811	126080811	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01	TCGA-32-4213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368364.3:c.877G>A	p.Ala293Thr	p.A293T	ENST00000368364	NM_012259.2	293	Gca/Aca	0			1			A	A/T	uc003qad.2	protein_coding	YES	CCDS5131.1			877/1014									breast(1)	1	c.(877-879)GCA>ACA			Low_complexity_(Seg):seg,hmmpanther:PTHR10985,hmmpanther:PTHR10985:SF79	hairy/enhancer-of-split related with YRPW motif				ENSP00000357348		5-May									COSM3410569	5-May	.		ENST00000368364	Transcript			negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	ENSG00000135547	g.chr6:126080811G>A	4881			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=HEY2_HUMAN&rb=165&re=337&var=A293T	NA	getma.org/?cm=var&var=hg19,6,126080811,G,A&fts=all	A293T	--	--	1																																		HEY2_uc011ebr.1_Missense_Mutation_p.A247T	1	1		probably_damaging(0.978)	p.A293T	NM_012259	NP_036391		deleterious(0.02)	1	HEY2_HUMAN	HEY2	HGNC	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	Q5TF93_HUMAN,B4E1L3_HUMAN		5	1068	+			UPI0000037AFE	293			Ala-rich.		SNV	HEY2,missense_variant,p.Ala293Thr,ENST00000368364,NM_012259.2;HEY2,missense_variant,p.Ala247Thr,ENST00000368365,;	uc003qad.2	c.877G>A	1074/2678	1	1			c.877G>A						6	SNP	c.(877-879)GCA>ACA	55	55			breast(1)	1	Broad	hairy/enhancer-of-split related with YRPW motif			126080811		0.647	ENSG00000135547	6950	g.chr6:126080811G>A	negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding							183.889327	KEEP	36	57	-1	92	91	36	57	-1	190.15125	92	91	0.32618	1	0	0	0	0	1	0	0	0	--	--		0	A			HEY2_uc011ebr.1_Missense_Mutation_p.A247T	247	GBM-32-4213-TP	p.A293T	G	TCCCCCAAACGCAGCAGCAGC	NM_012259	NP_036391	126080811	Q9UBP5	HEY2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	5	1068	+	A	A			Missense_Mutation	293			Ala-rich.			
HFE	0	broad.mit.edu	GRCh37	6	26091215	26091215	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01	TCGA-14-1825-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357618.5:c.223G>A	p.Val75Ile	p.V75I	ENST00000357618	NM_000410.3	75	Gtt/Att	0			1			A	V/I	uc003nfx.1	protein_coding	YES	CCDS4578.1			223/1047										0	c.(223-225)GTT>ATT			Gene3D:3.30.500.10,Pfam_domain:PF00129,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF139,Superfamily_domains:SSF54452	hemochromatosis protein isoform 1 precursor				ENSP00000417404		6-Feb									COSM3410844,COSM3410845	6-Feb	.	Hemochromatosis	ENST00000357618	Transcript	1		antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding	ENSG00000010704	g.chr6:26091215G>A	4886			MODERATE		0.285	neutral	getma.org/?cm=msa&ty=f&p=HFE_HUMAN&rb=26&re=202&var=V75I	getma.org/pdb.php?prot=HFE_HUMAN&from=26&to=202&var=V75I	getma.org/?cm=var&var=hg19,6,26091215,G,A&fts=all	V75I	--	--	1																																		HFE_uc003nfy.1_Missense_Mutation_p.V52I|HFE_uc010jqe.1_Missense_Mutation_p.V75I|HFE_uc003nfz.1_Intron|HFE_uc003ngd.1_Intron|HFE_uc003nga.1_Missense_Mutation_p.V75I|HFE_uc003ngb.1_Missense_Mutation_p.V75I|HFE_uc003ngc.1_Missense_Mutation_p.V75I|HFE_uc003nge.1_Intron|HFE_uc003ngf.1_Intron	1,1	1		benign(0.007)	p.V75I	NM_000410	NP_000401		tolerated(0.53)	1,1	HFE_HUMAN	HFE	HGNC	Q30201	HFE_HUMAN			Q9UK37_HUMAN,Q9BXI5_HUMAN,Q8MH46_HUMAN,Q86WL1_HUMAN,I1VA72_HUMAN,I1VA66_HUMAN,I1VA63_HUMAN,I1VA60_HUMAN,I1VA56_HUMAN,I1VA55_HUMAN,H2E8T5_HUMAN,G3LGR1_HUMAN,G3LGR0_HUMAN,G3LGQ9_HUMAN,G3LGQ6_HUMAN,F5B2M9_HUMAN		2	383	+			UPI0000001700	75			Extracellular (Potential).|Alpha-1.		SNV	HFE,missense_variant,p.Val75Ile,ENST00000357618,NM_000410.3,NM_139006.2;HFE,missense_variant,p.Val75Ile,ENST00000317896,NM_139004.2,NM_139003.2;HFE,missense_variant,p.Val52Ile,ENST00000397022,NM_139009.2;HFE,missense_variant,p.Val75Ile,ENST00000309234,;HFE,missense_variant,p.Val75Ile,ENST00000470149,;HFE,missense_variant,p.Val75Ile,ENST00000461397,;HFE,missense_variant,p.Val75Ile,ENST00000336625,;HFE,intron_variant,,ENST00000349999,NM_139008.2,NM_139007.2;HFE,intron_variant,,ENST00000353147,NM_139010.2;HFE,intron_variant,,ENST00000488199,;HFE,intron_variant,,ENST00000352392,NM_139011.2;HFE,upstream_gene_variant,,ENST00000485729,;HFE,non_coding_transcript_exon_variant,,ENST00000483782,;HFE,non_coding_transcript_exon_variant,,ENST00000486147,;	uc003nfx.1	c.223G>A	345/5286	2	2			c.223G>A						6	SNP	c.(223-225)GTT>ATT	45	45				0	Broad	hemochromatosis protein isoform 1 precursor			26091215	Hemochromatosis	0.488	ENSG00000010704	6952	g.chr6:26091215G>A	antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding							138.4361	KEEP	29	29	-1	50	25	29	29	-1	138.641295	50	25	0.451923	1	0	0	0	0	1	0	0	0	--	--		0	A			HFE_uc003nfy.1_Missense_Mutation_p.V52I|HFE_uc010jqe.1_Missense_Mutation_p.V75I|HFE_uc003nfz.1_Intron|HFE_uc003ngd.1_Intron|HFE_uc003nga.1_Missense_Mutation_p.V75I|HFE_uc003ngb.1_Missense_Mutation_p.V75I|HFE_uc003ngc.1_Missense_Mutation_p.V75I|HFE_uc003nge.1_Intron|HFE_uc003ngf.1_Intron	148	GBM-14-1825-TP	p.V75I	G	AACTCCATGGGTTTCCAGTAG	NM_000410	NP_000401	26091215	Q30201	HFE_HUMAN	0			2	383	+	A	A			Missense_Mutation	75			Extracellular (Potential).|Alpha-1.			
HFE	3077		GRCh37	6	26093160	26093160	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000357618.5:c.864C>A	p.Gly288=	p.G288=	ENST00000357618	NM_000410.3	288	ggC/ggA	0																																																																																																																																																																																																																																												
HFM1	164045	broad.mit.edu	GRCh37	1	91784871	91784871	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0171-01	TCGA-06-0171-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370425.3:c.2659C>T	p.His887Tyr	p.H887Y	ENST00000370425	NM_001017975.3	887	Cat/Tat	0			1			A	H/Y	uc001doa.3	protein_coding	YES	CCDS30769.2			2659/4308										0	c.(2659-2661)CAT>TAT			Gene3D:2q0zX01,Pfam_domain:PF02889,hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF47,SMART_domains:SM00973,Superfamily_domains:SSF158702	HFM1 protein				ENSP00000359454		24/39									COSM3401083	24/39	.		ENST00000370425	Transcript					ATP binding|ATP-dependent helicase activity|nucleic acid binding	ENSG00000162669	g.chr1:91784871G>A	20193			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=HFM1_HUMAN&rb=777&re=1092&var=H887Y	NA	getma.org/?cm=var&var=hg19,1,91784871,G,A&fts=all	H887Y	--	--	1																																		HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.H566Y|HFM1_uc001dob.3_Missense_Mutation_p.H119Y|HFM1_uc010osv.1_Missense_Mutation_p.H571Y	1	1		benign(0.015)	p.H887Y	NM_001017975	NP_001017975		tolerated(0.18)	1	HFM1_HUMAN	HFM1	HGNC	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	D2KTB2_HUMAN,C9JQP7_HUMAN,B7ZM00_HUMAN,A6NGI5_HUMAN		24	2759	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	UPI0000F51F79	887			SEC63.		SNV	HFM1,missense_variant,p.His887Tyr,ENST00000370425,NM_001017975.3;HFM1,missense_variant,p.His119Tyr,ENST00000294696,;HFM1,missense_variant,p.His566Tyr,ENST00000370424,;HFM1,missense_variant,p.His143Tyr,ENST00000430465,;HFM1,non_coding_transcript_exon_variant,,ENST00000462405,;HFM1,non_coding_transcript_exon_variant,,ENST00000497520,;	uc001doa.3	c.2659C>T	2758/4931	2	2			c.2659C>T						1	SNP	c.(2659-2661)CAT>TAT	25	25				0	Broad	HFM1 protein			91784871		0.323	ENSG00000162669	6954	g.chr1:91784871G>A			ATP binding|ATP-dependent helicase activity|nucleic acid binding							35.012764	KEEP	17	10	-1	70	56	17	10	-1	48.332192	70	56	0.162602	1	0	0	0	0	1	0	0	0	--	--		0	A			HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.H566Y|HFM1_uc001dob.3_Missense_Mutation_p.H119Y|HFM1_uc010osv.1_Missense_Mutation_p.H571Y	35	GBM-06-0171-TP	p.H887Y	G	CGGGAGCCATGTCTGAAAATC	NM_001017975	NP_001017975	91784871	A2PYH4	HFM1_HUMAN	0		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	24	2759	-	A	A		all_lung(203;0.00961)|Lung NSC(277;0.0351)	Missense_Mutation	887			SEC63.			
HFM1	0	broad.mit.edu	GRCh37	1	91840986	91840986	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5960-01	TCGA-19-5960-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370425.3:c.1614G>A	p.Lys538=	p.K538=	ENST00000370425	NM_001017975.3	538	aaG/aaA	0			1			T	K	uc001doa.3	protein_coding	YES	CCDS30769.2			1614/4308										0	c.(1612-1614)AAG>AAA			Gene3D:3.40.50.300,PROSITE_profiles:PS51194,hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF47,Superfamily_domains:SSF52540	HFM1 protein				ENSP00000359454		13/39									COSM3401084	13/39	.		ENST00000370425	Transcript					ATP binding|ATP-dependent helicase activity|nucleic acid binding	ENSG00000162669	g.chr1:91840986C>T	20193			LOW								--	--	1																																		HFM1_uc010osu.1_Silent_p.K217K|HFM1_uc010osv.1_Silent_p.K222K	1	1			p.K538K	NM_001017975	NP_001017975			1	HFM1_HUMAN	HFM1	HGNC	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	D2KTB2_HUMAN,C9JQP7_HUMAN,B7ZM00_HUMAN,A6NGI5_HUMAN		13	1714	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	UPI0000F51F79	538			Helicase C-terminal.		SNV	HFM1,synonymous_variant,p.=,ENST00000370425,NM_001017975.3;HFM1,synonymous_variant,p.=,ENST00000370424,;HFM1,5_prime_UTR_variant,,ENST00000294696,;HFM1,downstream_gene_variant,,ENST00000448819,;HFM1,downstream_gene_variant,,ENST00000481900,;HFM1,downstream_gene_variant,,ENST00000488023,;	uc001doa.3	c.1614G>A	1713/4931	1	1			c.1614G>A						1	SNP	c.(1612-1614)AAG>AAA	16	16				0	Broad	HFM1 protein			91840986		0.308	ENSG00000162669	6954	g.chr1:91840986C>T			ATP binding|ATP-dependent helicase activity|nucleic acid binding							120.867033	KEEP	17	21	-1	25	25	17	21	-1	120.998722	25	25	0.45679	1	0	0	0	0	0	0	1	0	--	--		0	T			HFM1_uc010osu.1_Silent_p.K217K|HFM1_uc010osv.1_Silent_p.K222K	178	GBM-19-5960-TP	p.K538K	C	GTTGCACACCCTTCCTTGTTG	NM_001017975	NP_001017975	91840986	A2PYH4	HFM1_HUMAN	0		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	13	1714	-	T	T		all_lung(203;0.00961)|Lung NSC(277;0.0351)	Silent	538			Helicase C-terminal.			
HFM1	164045		GRCh37	1	91740328	91740328	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000370425.3:c.3627G>A	p.Glu1209=	p.E1209=	ENST00000370425	NM_001017975.3	1209	gaG/gaA	0																																																																																																																																																																																																																																												
HGF	3082	broad.mit.edu	GRCh37	7	81386513	81386513	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6388-01	TCGA-06-6388-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222390.5:c.474C>T	p.His158=	p.H158=	ENST00000222390	NM_000601.4	158	caC/caT	0	A:0.0002		1			A	H	uc003uhl.2	protein_coding	YES	CCDS5597.1			474/2187									ovary(2)|central_nervous_system(2)	4	c.(472-474)CAC>CAT			PROSITE_profiles:PS50070,hmmpanther:PTHR24272:SF3,hmmpanther:PTHR24272,Pfam_domain:PF00051,Gene3D:2.40.20.10,PIRSF_domain:PIRSF500183,PIRSF_domain:PIRSF001152,SMART_domains:SM00130,Superfamily_domains:SSF57440	hepatocyte growth factor isoform 1			A:0	ENSP00000222390		18-Apr	6.59E-05	9.62E-05		0.000116		9.00E-05			rs367553438,COSM1452246	18-Apr	.		ENST00000222390	Transcript	1		epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	ENSG00000019991	g.chr7:81386513G>A	4893			LOW								--	--	1																																		HGF_uc003uhm.2_Silent_p.H158H|HGF_uc003uhn.1_Silent_p.H158H|HGF_uc003uho.1_Silent_p.H158H|HGF_uc003uhp.2_Silent_p.H158H	0,1	1			p.H158H	NM_000601	NP_000592			0,1	HGF_HUMAN	HGF	HGNC	P14210	HGF_HUMAN			C9JS80_HUMAN,C9JDP4_HUMAN		4	639	-			UPI000000D92B	158			Kringle 1.		SNV	HGF,synonymous_variant,p.=,ENST00000222390,NM_000601.4;HGF,synonymous_variant,p.=,ENST00000457544,NM_001010932.1;HGF,synonymous_variant,p.=,ENST00000423064,NM_001010934.1;HGF,synonymous_variant,p.=,ENST00000354224,;HGF,synonymous_variant,p.=,ENST00000444829,NM_001010931.1,NM_001010933.1;HGF,synonymous_variant,p.=,ENST00000453411,;HGF,synonymous_variant,p.=,ENST00000453018,;HGF,downstream_gene_variant,,ENST00000412881,;HGF,downstream_gene_variant,,ENST00000421558,;HGF,non_coding_transcript_exon_variant,,ENST00000465234,;	uc003uhl.2	c.474C>T	701/5989	1	1			c.474C>T						7	SNP	c.(472-474)CAC>CAT	54	54			ovary(2)|central_nervous_system(2)	4	Broad	hepatocyte growth factor isoform 1			81386513		0.393	ENSG00000019991	6955	g.chr7:81386513G>A	epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity		p.H158H(MELJUSO-Tumor)|p.H158H(SKUT1-Tumor)	800		p.H158H(MELJUSO-Tumor)|p.H158H(SKUT1-Tumor)	800	66.789029	KEEP	13	15	-1	35	35	13	15	-1	70.152918	35	35	0.296703	1	0	0	0	0	0	0	1	0	--	--		0	A			HGF_uc003uhm.2_Silent_p.H158H|HGF_uc003uhn.1_Silent_p.H158H|HGF_uc003uho.1_Silent_p.H158H|HGF_uc003uhp.2_Silent_p.H158H	104	GBM-06-6388-TP	p.H158H	G	ACCTGTGTTCGTGTGGTATCA	NM_000601	NP_000592	81386513	P14210	HGF_HUMAN	0			4	639	-	A	A			Silent	158			Kringle 1.			
HGF	0	broad.mit.edu	GRCh37	7	81331979	81331979	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01	TCGA-15-0742-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222390.5:c.2105G>A	p.Arg702His	p.R702H	ENST00000222390	NM_000601.4	702	cGt/cAt	0			1			T	R/H	uc003uhl.2	protein_coding	YES	CCDS5597.1			2105/2187									ovary(2)|central_nervous_system(2)	4	c.(2104-2106)CGT>CAT			PROSITE_profiles:PS50240,hmmpanther:PTHR24272:SF3,hmmpanther:PTHR24272,Pfam_domain:PF00089,Gene3D:2.40.10.10,PIRSF_domain:PIRSF500183,SMART_domains:SM00020,PIRSF_domain:PIRSF001152,Superfamily_domains:SSF50494	hepatocyte growth factor isoform 1				ENSP00000222390		18/18	8.24E-06							6.07E-05	rs763933267,COSM3412339	18/18	.		ENST00000222390	Transcript	1		epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	ENSG00000019991	g.chr7:81331979C>T	4893			MODERATE		1.045	low	getma.org/?cm=msa&ty=f&p=HGF_HUMAN&rb=495&re=716&var=R702H	getma.org/pdb.php?prot=HGF_HUMAN&from=495&to=716&var=R702H	getma.org/?cm=var&var=hg19,7,81331979,C,T&fts=all	R702H	--	--	1																																		HGF_uc003uhm.2_Missense_Mutation_p.R697H	0,1	1		probably_damaging(0.999)	p.R702H	NM_000601	NP_000592		tolerated(0.07)	0,1	HGF_HUMAN	HGF	HGNC	P14210	HGF_HUMAN			C9JS80_HUMAN,C9JDP4_HUMAN		18	2270	-			UPI000000D92B	702			Peptidase S1.		SNV	HGF,missense_variant,p.Arg702His,ENST00000222390,NM_000601.4;HGF,missense_variant,p.Arg697His,ENST00000457544,NM_001010932.1;	uc003uhl.2	c.2105G>A	2332/5989	2	2			c.2105G>A						7	SNP	c.(2104-2106)CGT>CAT	45	45			ovary(2)|central_nervous_system(2)	4	Broad	hepatocyte growth factor isoform 1			81331979		0.403	ENSG00000019991	6955	g.chr7:81331979C>T	epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			800			800	116.769793	KEEP	26	22	-1	49	59	26	22	-1	121.69898	49	59	0.302817	1	0	0	0	0	1	0	0	0	--	--		0	T			HGF_uc003uhm.2_Missense_Mutation_p.R697H	153	GBM-15-0742-TP	p.R702H	C	AATACCAGGACGATTTGGAAT	NM_000601	NP_000592	81331979	P14210	HGF_HUMAN	0			18	2270	-	T	T			Missense_Mutation	702			Peptidase S1.			
HGFAC	3083	broad.mit.edu	GRCh37	4	3449235	3449235	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01	TCGA-02-0055-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382774.3:c.1372G>A	p.Val458Ile	p.V458I	ENST00000382774	NM_001528.2	458	Gtc/Atc	0			1			A	V/I	uc003ghc.2	protein_coding	YES	CCDS3369.1			1372/1968									central_nervous_system(2)	2	c.(1372-1374)GTC>ATC			PROSITE_profiles:PS50240,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF11,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,PIRSF_domain:PIRSF001146,Superfamily_domains:SSF50494	HGF activator preproprotein				ENSP00000372224		14-Nov	8.24E-06					1.55E-05			rs759171739,COSM2149065	14-Nov	.		ENST00000382774	Transcript			proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	ENSG00000109758	g.chr4:3449235G>A	4894			MODERATE		0.035	neutral	getma.org/?cm=msa&ty=f&p=HGFA_HUMAN&rb=408&re=641&var=V458I	getma.org/pdb.php?prot=HGFA_HUMAN&from=408&to=641&var=V458I	getma.org/?cm=var&var=hg19,4,3449235,G,A&fts=all	V458I	--	--	1																																		HGFAC_uc010icw.2_Missense_Mutation_p.V465I	0,1	1		benign(0.016)	p.V458I	NM_001528	NP_001519		tolerated(1)	0,1	HGFA_HUMAN	HGFAC	HGNC	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)			11	1375	+			UPI0000000826	458			Peptidase S1.		SNV	HGFAC,missense_variant,p.Val458Ile,ENST00000382774,NM_001528.2;HGFAC,missense_variant,p.Val465Ile,ENST00000511533,;HGFAC,non_coding_transcript_exon_variant,,ENST00000509689,;HGFAC,non_coding_transcript_exon_variant,,ENST00000506132,;	uc003ghc.2	c.1372G>A	1487/2148	2	2			c.1372G>A						4	SNP	c.(1372-1374)GTC>ATC	32	32			central_nervous_system(2)	2	Broad	HGF activator preproprotein			3449235		0.667	ENSG00000109758	6956	g.chr4:3449235G>A	proteolysis	extracellular space	protein binding|serine-type endopeptidase activity							253.087646	KEEP	44	56	-1	112	111	44	56	-1	262.58389	112	111	0.311037	1	0	0	0	0	1	0	0	0	--	--		0	A			HGFAC_uc010icw.2_Missense_Mutation_p.V465I	4	GBM-02-0055-TP	p.V458I	G	CAGGGACAGCGTCTCCGTGGT	NM_001528	NP_001519	3449235	Q04756	HGFA_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	11	1375	+	A	A			Missense_Mutation	458			Peptidase S1.			
HGFAC	0	broad.mit.edu	GRCh37	4	3451018	3451018	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01	TCGA-27-2526-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382774.3:c.1840G>A	p.Gly614Ser	p.G614S	ENST00000382774	NM_001528.2	614	Ggc/Agc	0			1			A	G/S	uc003ghc.2	protein_coding	YES	CCDS3369.1			1840/1968									central_nervous_system(2)	2	c.(1840-1842)GGC>AGC			PROSITE_profiles:PS50240,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF11,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,PIRSF_domain:PIRSF001146,Superfamily_domains:SSF50494	HGF activator preproprotein				ENSP00000372224		14/14	8.24E-06					1.54E-05			rs769181942,COSM3409261	14/14	.		ENST00000382774	Transcript			proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	ENSG00000109758	g.chr4:3451018G>A	4894			MODERATE		4.19	high	getma.org/?cm=msa&ty=f&p=HGFA_HUMAN&rb=408&re=641&var=G614S	getma.org/pdb.php?prot=HGFA_HUMAN&from=408&to=641&var=G614S	getma.org/?cm=var&var=hg19,4,3451018,G,A&fts=all	G614S	--	--	1																																		HGFAC_uc010icw.2_Missense_Mutation_p.G621S	0,1	1		probably_damaging(1)	p.G614S	NM_001528	NP_001519		deleterious(0)	0,1	HGFA_HUMAN	HGFAC	HGNC	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)			14	1843	+			UPI0000000826	614			Peptidase S1.		SNV	HGFAC,missense_variant,p.Gly614Ser,ENST00000382774,NM_001528.2;HGFAC,missense_variant,p.Gly621Ser,ENST00000511533,;HGFAC,non_coding_transcript_exon_variant,,ENST00000509689,;HGFAC,downstream_gene_variant,,ENST00000506132,;	uc003ghc.2	c.1840G>A	1955/2148	2	2			c.1840G>A						4	SNP	c.(1840-1842)GGC>AGC	36	36			central_nervous_system(2)	2	Broad	HGF activator preproprotein			3451018		0.672	ENSG00000109758	6956	g.chr4:3451018G>A	proteolysis	extracellular space	protein binding|serine-type endopeptidase activity							100.041064	KEEP	30	17	-1	39	51	30	17	-1	102.537872	39	51	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	A			HGFAC_uc010icw.2_Missense_Mutation_p.G621S	203	GBM-27-2526-TP	p.G614S	G	TTACCTCTACGGCATCATCAG	NM_001528	NP_001519	3451018	Q04756	HGFA_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	14	1843	+	A	A			Missense_Mutation	614			Peptidase S1.			
HGSNAT	138050	broad.mit.edu	GRCh37	8	43048945	43048945	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-5412-01	TCGA-06-5412-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379644.4:c.1423G>C	p.Gly475Arg	p.G475R	ENST00000379644	NM_152419.2	475	Ggc/Cgc	0			1			C	G/R	uc003xpx.3	protein_coding	YES	CCDS47852.1			1423/1908										0	c.(1423-1425)GGC>CGC			hmmpanther:PTHR31061,hmmpanther:PTHR31061:SF2,Transmembrane_helices:TMhelix	heparan-alpha-glucosaminide N-acetyltransferase				ENSP00000368965		14/18									COSM3413037,COSM3413036	14/18	.		ENST00000379644	Transcript	1		lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity	ENSG00000165102	g.chr8:43048945G>C	26527			MODERATE		3.34	medium	getma.org/?cm=msa&ty=f&p=HGNAT_HUMAN&rb=501&re=662&var=G503R	NA	getma.org/?cm=var&var=hg19,8,43048945,G,C&fts=all	G503R	--	--	1																																			1,1	1		probably_damaging(0.997)	p.G475R	NM_152419	NP_689632		deleterious(0)	1,1	HGNAT_HUMAN	HGSNAT	HGNC	Q68CP4	HGNAT_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)				14	1471	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	UPI000057A06E	503			Helical; (Potential).		SNV	HGSNAT,missense_variant,p.Gly503Arg,ENST00000458501,;HGSNAT,missense_variant,p.Gly475Arg,ENST00000379644,NM_152419.2;HGSNAT,missense_variant,p.Gly192Arg,ENST00000521576,;HGSNAT,missense_variant,p.Gly207Arg,ENST00000297798,;HGSNAT,missense_variant,p.Gly177Arg,ENST00000524016,;HGSNAT,downstream_gene_variant,,ENST00000522082,;HGSNAT,non_coding_transcript_exon_variant,,ENST00000520678,;HGSNAT,upstream_gene_variant,,ENST00000523989,;HGSNAT,upstream_gene_variant,,ENST00000519705,;HGSNAT,downstream_gene_variant,,ENST00000519000,;	uc003xpx.3	c.1423G>C	1465/5236	3	3			c.1423G>C						8	SNP	c.(1423-1425)GGC>CGC	61	61				0	Broad	heparan-alpha-glucosaminide N-acetyltransferase			43048945		0.428	ENSG00000165102	6958	g.chr8:43048945G>C	lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity							-10.311574	KEEP	2	6	-1	61	86	2	6	-1	15.799943	61	86	0.061538	1	0	0	0	0	1	0	0	0	--	--		0	C				95	GBM-06-5412-TP	p.G475R	G	GGGCATCCTGGGCACCATCAA	NM_152419	NP_689632	43048945	Q68CP4	HGNAT_HUMAN	0	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		14	1471	+	C	C	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Missense_Mutation	503			Helical; (Potential).			
HHIPL1	84439	broad.mit.edu	GRCh37	14	100118715	100118715	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0644-01	TCGA-06-0644-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330710.5:c.410C>T	p.Ala137Val	p.A137V	ENST00000330710	NM_001127258.1	137	gCg/gTg	0			1			T	A/V	uc010avs.2	protein_coding	YES	CCDS45162.1			410/2349									skin(2)	2	c.(409-411)GCG>GTG			Pfam_domain:PF03024,hmmpanther:PTHR19328:SF32,hmmpanther:PTHR19328	HHIP-like protein 1 isoform a				ENSP00000330601		9-Feb	4.12E-05	0.000192			0.000151	1.50E-05		6.06E-05	rs753488026,COSM2151190,COSM2151189	9-Feb	.		ENST00000330710	Transcript			carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	ENSG00000182218	g.chr14:100118715C>T	19710			MODERATE		1.825	low	getma.org/?cm=msa&ty=f&p=HIPL1_HUMAN&rb=22&re=186&var=A137V	NA	getma.org/?cm=var&var=hg19,14,100118715,C,T&fts=all	A137V	--	--	1																																		HHIPL1_uc001ygl.1_Missense_Mutation_p.A137V	0,1,1	1		possibly_damaging(0.612)	p.A137V	NM_001127258	NP_001120730		tolerated(0.13)	0,1,1	HIPL1_HUMAN	HHIPL1	HGNC	Q96JK4	HIPL1_HUMAN			F1T0G3_HUMAN		2	475	+		Melanoma(154;0.128)	UPI000022988D	137					SNV	HHIPL1,missense_variant,p.Ala137Val,ENST00000330710,NM_001127258.1;HHIPL1,missense_variant,p.Ala137Val,ENST00000357223,NM_032425.4;	uc010avs.2	c.410C>T	508/7390	2	2			c.410C>T						14	SNP	c.(409-411)GCG>GTG	36	36			skin(2)	2	Broad	HHIP-like protein 1 isoform a			100118715		0.602	ENSG00000182218	6963	g.chr14:100118715C>T	carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity							97.642348	KEEP	14	21	-1	24	15	14	21	-1	97.670007	24	15	0.478873	1	0	0	0	0	1	0	0	0	--	--		0	T			HHIPL1_uc001ygl.1_Missense_Mutation_p.A137V	58	GBM-06-0644-TP	p.A137V	C	GAGCTCTGGGCGCTGGAGGGC	NM_001127258	NP_001120730	100118715	Q96JK4	HIPL1_HUMAN	0			2	475	+	T	T		Melanoma(154;0.128)	Missense_Mutation	137						
HHIPL2	79802	broad.mit.edu	GRCh37	1	222717477	222717477	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0686-01	TCGA-06-0686-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343410.6:c.376C>G	p.Leu126Val	p.L126V	ENST00000343410	NM_024746.3	126	Ctc/Gtc	0			1			C	L/V	uc001hnh.1	protein_coding	YES	CCDS1530.2			376/2175									ovary(1)	1	c.(376-378)CTC>GTC			Pfam_domain:PF03024,hmmpanther:PTHR19328:SF31,hmmpanther:PTHR19328	HHIP-like 2 precursor				ENSP00000342118		9-Feb									COSM2151554	9-Feb	.		ENST00000343410	Transcript			carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	ENSG00000143512	g.chr1:222717477G>C	25842			MODERATE		1.42	low	getma.org/?cm=msa&ty=f&p=HIPL2_HUMAN&rb=44&re=206&var=L126V	NA	getma.org/?cm=var&var=hg19,1,222717477,G,C&fts=all	L126V	--	--	1																																			1	1		benign(0.099)	p.L126V	NM_024746	NP_079022		tolerated(0.36)	1	HIPL2_HUMAN	HHIPL2	HGNC	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)			2	434	-			UPI000004C60D	126					SNV	HHIPL2,missense_variant,p.Leu126Val,ENST00000343410,NM_024746.3;HHIPL2,upstream_gene_variant,,ENST00000494899,;	uc001hnh.1	c.376C>G	435/2575	3	3			c.376C>G						1	SNP	c.(376-378)CTC>GTC	54	54			ovary(1)	1	Broad	HHIP-like 2 precursor			222717477		0.587	ENSG00000143512	6964	g.chr1:222717477G>C	carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding							306.114215	KEEP	67	36	-1	78	61	67	36	-1	307.700983	78	61	0.409091	1	0	0	0	0	1	0	0	0	--	--		0	C				64	GBM-06-0686-TP	p.L126V	G	AGATTCCGGAGAGGCGTCTGG	NM_024746	NP_079022	222717477	Q6UWX4	HIPL2_HUMAN	0		GBM - Glioblastoma multiforme(131;0.0185)	2	434	-	C	C			Missense_Mutation	126						
HHIPL2	0	broad.mit.edu	GRCh37	1	222713493	222713493	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-14-0789-01	TCGA-14-0789-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343410.6:c.1309C>T	p.Arg437Ter	p.R437*	ENST00000343410	NM_024746.3	437	Cga/Tga	0			1			A	R/*	uc001hnh.1	protein_coding	YES	CCDS1530.2			1309/2175									ovary(1)	1	c.(1309-1311)CGA>TGA			Superfamily_domains:0046203,Pfam_domain:PF07995,Gene3D:2.120.10.30,hmmpanther:PTHR19328:SF31,hmmpanther:PTHR19328	HHIP-like 2 precursor				ENSP00000342118		9-Apr	8.24E-06					1.50E-05			rs778287202,COSM3400351	9-Apr	.		ENST00000343410	Transcript			carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	ENSG00000143512	g.chr1:222713493G>A	25842			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,222713493,G,A&fts=all	R437*	--	--	1																																			0,1	1			p.R437*	NM_024746	NP_079022			0,1	HIPL2_HUMAN	HHIPL2	HGNC	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)			4	1367	-			UPI000004C60D	437					SNV	HHIPL2,stop_gained,p.Arg437Ter,ENST00000343410,NM_024746.3;HHIPL2,upstream_gene_variant,,ENST00000468172,;HHIPL2,upstream_gene_variant,,ENST00000494899,;	uc001hnh.1	c.1309C>T	1368/2575	5	1			c.1309C>T						1	SNP	c.(1309-1311)CGA>TGA	56	56			ovary(1)	1	Broad	HHIP-like 2 precursor			222713493		0.577	ENSG00000143512	6964	g.chr1:222713493G>A	carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding							158.089931	KEEP	29	30	-1	77	69	29	30	-1	165.970402	77	69	0.287179	1	0	0	0	0	0	1	0	0	--	--		0	A				136	GBM-14-0789-TP	p.R437*	G	ATCCGGCCTCGGCCCTGGCGC	NM_024746	NP_079022	222713493	Q6UWX4	HIPL2_HUMAN	0		GBM - Glioblastoma multiforme(131;0.0185)	4	1367	-	A	A			Nonsense_Mutation	437						
HHIPL2	0	broad.mit.edu	GRCh37	1	222717502	222717502	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-1829-01	TCGA-14-1829-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343410.6:c.351C>T	p.Tyr117=	p.Y117=	ENST00000343410	NM_024746.3	117	taC/taT	0			1			A	Y	uc001hnh.1	protein_coding	YES	CCDS1530.2			351/2175									ovary(1)	1	c.(349-351)TAC>TAT			Pfam_domain:PF03024,hmmpanther:PTHR19328:SF31,hmmpanther:PTHR19328	HHIP-like 2 precursor				ENSP00000342118		9-Feb									COSM369125	9-Feb	.		ENST00000343410	Transcript			carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	ENSG00000143512	g.chr1:222717502G>A	25842			LOW								--	--	1																																			1	1			p.Y117Y	NM_024746	NP_079022			1	HIPL2_HUMAN	HHIPL2	HGNC	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)			2	409	-			UPI000004C60D	117					SNV	HHIPL2,synonymous_variant,p.=,ENST00000343410,NM_024746.3;HHIPL2,upstream_gene_variant,,ENST00000494899,;	uc001hnh.1	c.351C>T	410/2575	1	1			c.351C>T						1	SNP	c.(349-351)TAC>TAT	59	59			ovary(1)	1	Broad	HHIP-like 2 precursor			222717502		0.567	ENSG00000143512	6964	g.chr1:222717502G>A	carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding							298.177306	KEEP	65	48	-1	80	91	65	48	-1	300.907181	80	91	0.390805	1	0	0	0	0	0	0	1	0	--	--		0	A				149	GBM-14-1829-TP	p.Y117Y	G	TTTCGGCGTCGTAGAGGTGGG	NM_024746	NP_079022	222717502	Q6UWX4	HIPL2_HUMAN	0		GBM - Glioblastoma multiforme(131;0.0185)	2	409	-	A	A			Silent	117						
HHIPL2	0	broad.mit.edu	GRCh37	1	222717273	222717273	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-28-5216-01	TCGA-28-5216-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343410.6:c.580C>G	p.Leu194Val	p.L194V	ENST00000343410	NM_024746.3	194	Ctg/Gtg	0			1			C	L/V	uc001hnh.1	protein_coding	YES	CCDS1530.2			580/2175									ovary(1)	1	c.(580-582)CTG>GTG			Pfam_domain:PF03024,hmmpanther:PTHR19328:SF31,hmmpanther:PTHR19328	HHIP-like 2 precursor				ENSP00000342118		9-Feb									COSM3400352	9-Feb	.		ENST00000343410	Transcript			carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	ENSG00000143512	g.chr1:222717273G>C	25842			MODERATE		3.005	medium	getma.org/?cm=msa&ty=f&p=HIPL2_HUMAN&rb=44&re=206&var=L194V	NA	getma.org/?cm=var&var=hg19,1,222717273,G,C&fts=all	L194V	--	--	1																																			1	1		probably_damaging(0.987)	p.L194V	NM_024746	NP_079022		deleterious(0)	1	HIPL2_HUMAN	HHIPL2	HGNC	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)			2	638	-			UPI000004C60D	194					SNV	HHIPL2,missense_variant,p.Leu194Val,ENST00000343410,NM_024746.3;HHIPL2,upstream_gene_variant,,ENST00000494899,;	uc001hnh.1	c.580C>G	639/2575	3	3			c.580C>G						1	SNP	c.(580-582)CTG>GTG	55	55			ovary(1)	1	Broad	HHIP-like 2 precursor			222717273		0.607	ENSG00000143512	6964	g.chr1:222717273G>C	carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding							-11.01466	KEEP	7	2	-1	51	82	7	2	-1	15.084554	51	82	0.061538	1	0	0	0	0	1	0	0	0	--	--		0	C				223	GBM-28-5216-TP	p.L194V	G	ACCATGCCCAGGTGGCGGTTG	NM_024746	NP_079022	222717273	Q6UWX4	HIPL2_HUMAN	0		GBM - Glioblastoma multiforme(131;0.0185)	2	638	-	C	C			Missense_Mutation	194						
HHIPL2	79802		GRCh37	1	222717002	222717002	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000343410.6:c.851G>A	p.Arg284His	p.R284H	ENST00000343410	NM_024746.3	284	cGc/cAc	0																																																																																																																																																																																																																																												
HHLA2	11148		GRCh37	3	108076824	108076824	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000357759.5:c.819C>T	p.Tyr273=	p.Y273=	ENST00000357759	NM_007072.2	273	taC/taT	0																																																																																																																																																																																																																																												
HIBCH	0	broad.mit.edu	GRCh37	2	191110923	191110923	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359678.5:c.766G>A	p.Asp256Asn	p.D256N	ENST00000359678	NM_198047.2	256	Gac/Aac	0			1			T	D/N	uc002uru.2	protein_coding	YES	CCDS2304.1			766/1161										0	c.(766-768)GAC>AAC			hmmpanther:PTHR11941:SF53,hmmpanther:PTHR11941	3-hydroxyisobutyryl-Coenzyme A hydrolase isoform				ENSP00000352706		14-Oct	8.24E-06					1.70E-05			rs765232044,COSM2157359	14-Oct	.		ENST00000359678	Transcript	1		branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding	ENSG00000198130	g.chr2:191110923C>T	4908			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=HIBCH_HUMAN&rb=201&re=259&var=D256N	getma.org/pdb.php?prot=HIBCH_HUMAN&from=201&to=259&var=D256N	getma.org/?cm=var&var=hg19,2,191110923,C,T&fts=all	D256N	--	--	1																																		HIBCH_uc002urv.2_Missense_Mutation_p.D256N	0,1	1		benign(0.001)	p.D256N	NM_014362	NP_055177		tolerated(0.28)	0,1	HIBCH_HUMAN	HIBCH	HGNC	Q6NVY1	HIBCH_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)		B9A058_HUMAN		10	849	-			UPI000013F16E	256					SNV	HIBCH,missense_variant,p.Asp256Asn,ENST00000392332,;HIBCH,missense_variant,p.Asp256Asn,ENST00000359678,NM_198047.2,NM_014362.3;HIBCH,missense_variant,p.Asp33Asn,ENST00000410045,;HIBCH,missense_variant,p.Asp36Asn,ENST00000409820,;HIBCH,missense_variant,p.Asp7Asn,ENST00000416732,;HIBCH,non_coding_transcript_exon_variant,,ENST00000485992,;HIBCH,3_prime_UTR_variant,,ENST00000392333,;	uc002uru.2	c.766G>A	1061/1939	1	1			c.766G>A						2	SNP	c.(766-768)GAC>AAC	6	6				0	Broad	3-hydroxyisobutyryl-Coenzyme A hydrolase isoform			191110923		0.254	ENSG00000198130	6970	g.chr2:191110923C>T	branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding							29.154855	KEEP	5	7	-1	23	19	5	7	-1	31.728669	23	19	0.255319	1	0	0	0	0	1	0	0	0	--	--		0	T			HIBCH_uc002urv.2_Missense_Mutation_p.D256N	246	GBM-32-4211-TP	p.D256N	C	AAAGACTTGTCTCGATCAATC	NM_014362	NP_055177	191110923	Q6NVY1	HIBCH_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)		10	849	-	T	T			Missense_Mutation	256						
HIF3A	0	broad.mit.edu	GRCh37	19	46832519	46832519	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-5959-01	TCGA-19-5959-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377670.4:c.1496A>G	p.Asp499Gly	p.D499G	ENST00000377670	NM_152795.3	499	gAc/gGc	0			1			G	D/G	uc002peh.2	protein_coding	YES	CCDS12681.2			1496/2010									upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3	c.(1495-1497)GAC>GGC			hmmpanther:PTHR23043:SF18,hmmpanther:PTHR23043,Pfam_domain:PF11413	hypoxia inducible factor 3, alpha subunit				ENSP00000366898		15-Dec									COSM3404405,COSM3404404,COSM3404406	15-Dec	.		ENST00000377670	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	ENSG00000124440	g.chr19:46832519A>G	15825			MODERATE		2.095	medium	getma.org/?cm=msa&ty=f&p=HIF3A_HUMAN&rb=477&re=510&var=D499G	NA	getma.org/?cm=var&var=hg19,19,46832519,A,G&fts=all	D499G	--	--	1																																		HIF3A_uc002peg.3_Missense_Mutation_p.D499G|HIF3A_uc002pei.3_Missense_Mutation_p.D443G|HIF3A_uc002pej.1_Intron|HIF3A_uc002pek.2_Missense_Mutation_p.D443G|HIF3A_uc010xxy.1_Missense_Mutation_p.D430G|HIF3A_uc002pel.2_Missense_Mutation_p.D497G|HIF3A_uc010xxz.1_Missense_Mutation_p.D448G	1,1,1	1		probably_damaging(0.995)	p.D499G	NM_152795	NP_690008		deleterious(0.01)	1,1,1	HIF3A_HUMAN	HIF3A	HGNC	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	Q9UPH7_HUMAN,O95262_HUMAN,E9PB04_HUMAN		12	1525	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	UPI00002026E2	499			NTAD.|ODD.		SNV	HIF3A,missense_variant,p.Asp443Gly,ENST00000339613,;HIF3A,missense_variant,p.Asp499Gly,ENST00000377670,NM_152795.3;HIF3A,missense_variant,p.Asp497Gly,ENST00000300862,NM_152794.3;HIF3A,missense_variant,p.Asp430Gly,ENST00000244303,NM_022462.4;HIF3A,missense_variant,p.Asp430Gly,ENST00000600383,;HIF3A,missense_variant,p.Asp448Gly,ENST00000420102,;HIF3A,intron_variant,,ENST00000472815,NM_152796.2;AC007193.10,intron_variant,,ENST00000596807,;HIF3A,non_coding_transcript_exon_variant,,ENST00000244302,;HIF3A,non_coding_transcript_exon_variant,,ENST00000291300,;HIF3A,non_coding_transcript_exon_variant,,ENST00000529542,;HIF3A,downstream_gene_variant,,ENST00000528563,;	uc002peh.2	c.1496A>G	1527/5852	4	4			c.1496A>G						19	SNP	c.(1495-1497)GAC>GGC	21	21			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3	Broad	hypoxia inducible factor 3, alpha subunit			46832519		0.552	ENSG00000124440	6975	g.chr19:46832519A>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity							77.034038	KEEP	10	20	-1	33	47	10	20	-1	81.242959	33	47	0.276596	1	0	0	0	0	1	0	0	0	--	--		0	G			HIF3A_uc002peg.3_Missense_Mutation_p.D499G|HIF3A_uc002pei.3_Missense_Mutation_p.D443G|HIF3A_uc002pej.1_Intron|HIF3A_uc002pek.2_Missense_Mutation_p.D443G|HIF3A_uc010xxy.1_Missense_Mutation_p.D430G|HIF3A_uc002pel.2_Missense_Mutation_p.D497G|HIF3A_uc010xxz.1_Missense_Mutation_p.D448G	177	GBM-19-5959-TP	p.D499G	A	ATGGATGATGACTTCCAGCTC	NM_152795	NP_690008	46832519	Q9Y2N7	HIF3A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	12	1525	+	G	G		Ovarian(192;0.00965)|all_neural(266;0.0887)	Missense_Mutation	499			NTAD.|ODD.			
HIF3A	0	broad.mit.edu	GRCh37	19	46807322	46807322	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01	TCGA-76-6192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377670.4:c.194G>A	p.Arg65His	p.R65H	ENST00000377670	NM_152795.3	65	cGc/cAc	0			1			A	R/H	uc002peh.2	protein_coding	YES	CCDS12681.2			194/2010									upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3	c.(193-195)CGC>CAC			PROSITE_profiles:PS50888,hmmpanther:PTHR23043:SF18,hmmpanther:PTHR23043,SMART_domains:SM00353,Superfamily_domains:SSF47459	hypoxia inducible factor 3, alpha subunit				ENSP00000366898		15-Feb									COSM3404402,COSM3404401,COSM3404403	15-Feb	.		ENST00000377670	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	ENSG00000124440	g.chr19:46807322G>A	15825			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=HIF3A_HUMAN&rb=28&re=68&var=R65H	NA	getma.org/?cm=var&var=hg19,19,46807322,G,A&fts=all	R65H	--	--	1																																		HIF3A_uc002pef.1_Missense_Mutation_p.R65H|HIF3A_uc002peg.3_Missense_Mutation_p.R65H|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Missense_Mutation_p.R9H|HIF3A_uc002pej.1_Missense_Mutation_p.A45T|HIF3A_uc002pek.2_Missense_Mutation_p.R9H|HIF3A_uc010xxy.1_Missense_Mutation_p.A45T|HIF3A_uc002pel.2_Missense_Mutation_p.R63H|HIF3A_uc010xxz.1_Missense_Mutation_p.A63T	1,1,1	1		probably_damaging(0.999)	p.R65H	NM_152795	NP_690008		deleterious(0.01)	1,1,1	HIF3A_HUMAN	HIF3A	HGNC	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	Q9UPH7_HUMAN,O95262_HUMAN,E9PB04_HUMAN		2	223	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	UPI00002026E2	65			Helix-loop-helix motif.		SNV	HIF3A,missense_variant,p.Arg9His,ENST00000339613,;HIF3A,missense_variant,p.Arg65His,ENST00000377670,NM_152795.3;HIF3A,missense_variant,p.Arg63His,ENST00000300862,NM_152794.3;HIF3A,missense_variant,p.Ala45Thr,ENST00000244303,NM_022462.4;HIF3A,missense_variant,p.Ala45Thr,ENST00000600383,;HIF3A,missense_variant,p.Ala63Thr,ENST00000420102,;HIF3A,missense_variant,p.Ala45Thr,ENST00000472815,NM_152796.2;HIF3A,missense_variant,p.Ala45Thr,ENST00000533145,;RNU6-924P,downstream_gene_variant,,ENST00000362926,;HIF3A,upstream_gene_variant,,ENST00000525854,;HIF3A,missense_variant,p.Ala45Thr,ENST00000528563,;HIF3A,missense_variant,p.Ala45Thr,ENST00000600879,;HIF3A,missense_variant,p.Arg65His,ENST00000533789,;HIF3A,missense_variant,p.Ala45Thr,ENST00000526506,;HIF3A,non_coding_transcript_exon_variant,,ENST00000291300,;HIF3A,non_coding_transcript_exon_variant,,ENST00000244302,;HIF3A,non_coding_transcript_exon_variant,,ENST00000475432,;HIF3A,non_coding_transcript_exon_variant,,ENST00000524533,;HIF3A,upstream_gene_variant,,ENST00000529205,;	uc002peh.2	c.194G>A	225/5852	1	1			c.194G>A						19	SNP	c.(193-195)CGC>CAC	49	49			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3	Broad	hypoxia inducible factor 3, alpha subunit			46807322		0.672	ENSG00000124440	6975	g.chr19:46807322G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity							6.651415	KEEP	1	1	-1	1	0	1	1	-1	6.724624	1	0	0.666667	1	0	0	0	0	1	0	0	0	--	--		0	A			HIF3A_uc002pef.1_Missense_Mutation_p.R65H|HIF3A_uc002peg.3_Missense_Mutation_p.R65H|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Missense_Mutation_p.R9H|HIF3A_uc002pej.1_Missense_Mutation_p.A45T|HIF3A_uc002pek.2_Missense_Mutation_p.R9H|HIF3A_uc010xxy.1_Missense_Mutation_p.A45T|HIF3A_uc002pel.2_Missense_Mutation_p.R63H|HIF3A_uc010xxz.1_Missense_Mutation_p.A63T	275	GBM-76-6192-TP	p.R65H	G	AGCTACCTGCGCATGCACCGC	NM_152795	NP_690008	46807322	Q9Y2N7	HIF3A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	2	223	+	A	A		Ovarian(192;0.00965)|all_neural(266;0.0887)	Missense_Mutation	65			Helix-loop-helix motif.			
HIP1R	9026	broad.mit.edu	GRCh37	12	123346052	123346052	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0129-01	TCGA-06-0129-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000253083.4:c.3150G>A	p.Gln1050=	p.Q1050=	ENST00000253083	NM_003959.1	1050	caG/caA	0			1			A	Q	uc001udj.1	protein_coding	YES	CCDS31922.1			3150/3207									ovary(1)	1	c.(3148-3150)CAG>CAA				huntingtin interacting protein-1-related				ENSP00000253083		31/32									COSM3398477	31/32	.		ENST00000253083	Transcript			receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding	ENSG00000130787	g.chr12:123346052G>A	18415			LOW								--	--	1																																		HIP1R_uc001udk.1_Silent_p.Q315Q	1	1			p.Q1050Q	NM_003959	NP_003950			1	HIP1R_HUMAN	HIP1R	HGNC	O75146	HIP1R_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)	B3KN98_HUMAN		31	3209	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		UPI000012C72C	1050					SNV	HIP1R,synonymous_variant,p.=,ENST00000253083,NM_003959.1;HIP1R,synonymous_variant,p.=,ENST00000535012,;VPS37B,downstream_gene_variant,,ENST00000267202,NM_024667.2;RP11-463O12.3,upstream_gene_variant,,ENST00000537827,;HIP1R,upstream_gene_variant,,ENST00000537322,;HIP1R,non_coding_transcript_exon_variant,,ENST00000536617,;HIP1R,non_coding_transcript_exon_variant,,ENST00000538236,;HIP1R,downstream_gene_variant,,ENST00000535831,;HIP1R,downstream_gene_variant,,ENST00000452196,;HIP1R,downstream_gene_variant,,ENST00000541712,;	uc001udj.1	c.3150G>A	3275/4539	1	1			c.3150G>A						12	SNP	c.(3148-3150)CAG>CAA	54	54			ovary(1)	1	Broad	huntingtin interacting protein-1-related			123346052		0.677	ENSG00000130787	6985	g.chr12:123346052G>A	receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding							7.57621	KEEP	2	7	-1	22	43	2	7	-1	17.498048	22	43	0.107692	1	0	0	0	0	0	0	1	0	--	--		0	A			HIP1R_uc001udk.1_Silent_p.Q315Q	15	GBM-06-0129-TP	p.Q1050Q	G	CCCCCAGACAGGACCACCAGG	NM_003959	NP_003950	123346052	O75146	HIP1R_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)	31	3209	+	A	A	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		Silent	1050						
HIP1R	9026		GRCh37	12	123339938	123339938	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000253083.4:c.979G>A	p.Ala327Thr	p.A327T	ENST00000253083	NM_003959.1	327	Gcg/Acg	0																																																																																																																																																																																																																																												
HIPK1	204851	broad.mit.edu	GRCh37	1	114515777	114515777	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-0216-01	TCGA-06-0216-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369558.1:c.3276G>T	p.Ser1092=	p.S1092=	ENST00000369558		1092	tcG/tcT	0			1			T	S	uc001eem.2	protein_coding	YES	CCDS867.1			3276/3633									ovary(4)	4	c.(3274-3276)TCG>TCT				homeodomain-interacting protein kinase 1 isoform				ENSP00000358571		16/16									COSM2150929	16/16	.		ENST00000369558	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	ENSG00000163349	g.chr1:114515777G>T	19006			LOW								--	--	1																																		HIPK1_uc001een.2_Silent_p.S1092S|HIPK1_uc001eeo.2_Silent_p.S718S|HIPK1_uc001eep.2_Silent_p.S698S|HIPK1_uc001eeq.2_Silent_p.S384S	1	1			p.S1092S	NM_198268	NP_938009			1	HIPK1_HUMAN	HIPK1	HGNC	Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	D6RF28_HUMAN,D6RC95_HUMAN		16	3437	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	UPI000000D74E	1092			Interaction with TP53.		SNV	HIPK1,synonymous_variant,p.=,ENST00000369558,;HIPK1,synonymous_variant,p.=,ENST00000369554,NM_198268.2;HIPK1,synonymous_variant,p.=,ENST00000340480,NM_198269.2;HIPK1,synonymous_variant,p.=,ENST00000406344,;HIPK1,synonymous_variant,p.=,ENST00000361587,;HIPK1,synonymous_variant,p.=,ENST00000426820,;HIPK1,synonymous_variant,p.=,ENST00000369555,;HIPK1,synonymous_variant,p.=,ENST00000369561,;HIPK1,synonymous_variant,p.=,ENST00000369553,NM_181358.2;HIPK1,downstream_gene_variant,,ENST00000369559,NM_152696.3;	uc001eem.2	c.3276G>T	3508/8157	1	1			c.3276G>T						1	SNP	c.(3274-3276)TCG>TCT	3	3			ovary(4)	4	Broad	homeodomain-interacting protein kinase 1 isoform			114515777		0.647	ENSG00000163349	6986	g.chr1:114515777G>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity		p.S1092S(MFE319-Tumor)	365		p.S1092S(MFE319-Tumor)	365	208.020513	KEEP	34	59	0.365591398	49	76	34	59	0.365591398	209.795869	49	76	0.395722	1	0	0	0	0	0	0	1	0	--	--		0	T			HIPK1_uc001een.2_Silent_p.S1092S|HIPK1_uc001eeo.2_Silent_p.S718S|HIPK1_uc001eep.2_Silent_p.S698S|HIPK1_uc001eeq.2_Silent_p.S384S	51	GBM-06-0216-TP	p.S1092S	G	CGCTACACTCGACAGGGCACC	NM_198268	NP_938009	114515777	Q86Z02	HIPK1_HUMAN	0		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	16	3437	+	T	T	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	Silent	1092			Interaction with TP53.			
HIPK1	204851	broad.mit.edu	GRCh37	1	114508833	114508833	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-2562-01	TCGA-06-2562-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369558.1:c.2320G>T	p.Val774Phe	p.V774F	ENST00000369558		774	Gtc/Ttc	0			1			T	V/F	uc001eem.2	protein_coding	YES	CCDS867.1			2320/3633									ovary(4)	4	c.(2320-2322)GTC>TTC				homeodomain-interacting protein kinase 1 isoform				ENSP00000358571		16-Nov									COSM2152823,COSM2152822	16-Nov	.		ENST00000369558	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	ENSG00000163349	g.chr1:114508833G>T	19006			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=HIPK1_HUMAN&rb=742&re=805&var=V774F	NA	getma.org/?cm=var&var=hg19,1,114508833,G,T&fts=all	V774F	--	--	1																																		HIPK1_uc001eel.2_Missense_Mutation_p.V774F|HIPK1_uc001een.2_Missense_Mutation_p.V774F|HIPK1_uc001eeo.2_Missense_Mutation_p.V400F|HIPK1_uc001eep.2_Missense_Mutation_p.V380F|HIPK1_uc001eeq.2_Missense_Mutation_p.V66F	1,1	1		probably_damaging(0.921)	p.V774F	NM_198268	NP_938009		tolerated(0.2)	1,1	HIPK1_HUMAN	HIPK1	HGNC	Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	D6RF28_HUMAN,D6RC95_HUMAN		11	2481	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	UPI000000D74E	774					SNV	HIPK1,missense_variant,p.Val774Phe,ENST00000369558,;HIPK1,missense_variant,p.Val729Phe,ENST00000369554,NM_198268.2;HIPK1,missense_variant,p.Val400Phe,ENST00000340480,NM_198269.2;HIPK1,missense_variant,p.Val380Phe,ENST00000406344,;HIPK1,missense_variant,p.Val55Phe,ENST00000361587,;HIPK1,missense_variant,p.Val774Phe,ENST00000426820,;HIPK1,missense_variant,p.Val729Phe,ENST00000369555,;HIPK1,missense_variant,p.Val740Phe,ENST00000369561,;HIPK1,missense_variant,p.Val774Phe,ENST00000369559,NM_152696.3;HIPK1,missense_variant,p.Val380Phe,ENST00000369553,NM_181358.2;	uc001eem.2	c.2320G>T	2552/8157	1	1			c.2320G>T						1	SNP	c.(2320-2322)GTC>TTC	8	8			ovary(4)	4	Broad	homeodomain-interacting protein kinase 1 isoform			114508833		0.542	ENSG00000163349	6986	g.chr1:114508833G>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			365			365	126.911922	KEEP	23	21	0.522727273	38	45	23	21	0.522727273	129.295076	38	45	0.35	1	0	0	0	0	1	0	0	0	--	--		0	T			HIPK1_uc001eel.2_Missense_Mutation_p.V774F|HIPK1_uc001een.2_Missense_Mutation_p.V774F|HIPK1_uc001eeo.2_Missense_Mutation_p.V400F|HIPK1_uc001eep.2_Missense_Mutation_p.V380F|HIPK1_uc001eeq.2_Missense_Mutation_p.V66F	85	GBM-06-2562-TP	p.V774F	G	ACACAACTCTGTCCAGCCCAC	NM_198268	NP_938009	114508833	Q86Z02	HIPK1_HUMAN	0		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	11	2481	+	T	T	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	Missense_Mutation	774						
HIPK1	204851	broad.mit.edu	GRCh37	1	114508840	114508840	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-2562-01	TCGA-06-2562-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369558.1:c.2327C>A	p.Pro776His	p.P776H	ENST00000369558		776	cCc/cAc	0			1			A	P/H	uc001eem.2	protein_coding	YES	CCDS867.1			2327/3633									ovary(4)	4	c.(2326-2328)CCC>CAC				homeodomain-interacting protein kinase 1 isoform				ENSP00000358571		16-Nov									COSM2152793,COSM2152792	16-Nov	.		ENST00000369558	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	ENSG00000163349	g.chr1:114508840C>A	19006			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=HIPK1_HUMAN&rb=776&re=1208&var=P776H	NA	getma.org/?cm=var&var=hg19,1,114508840,C,A&fts=all	P776H	--	--	1																																		HIPK1_uc001eel.2_Missense_Mutation_p.P776H|HIPK1_uc001een.2_Missense_Mutation_p.P776H|HIPK1_uc001eeo.2_Missense_Mutation_p.P402H|HIPK1_uc001eep.2_Missense_Mutation_p.P382H|HIPK1_uc001eeq.2_Missense_Mutation_p.P68H	1,1	1		benign(0.013)	p.P776H	NM_198268	NP_938009		tolerated(0.38)	1,1	HIPK1_HUMAN	HIPK1	HGNC	Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	D6RF28_HUMAN,D6RC95_HUMAN		11	2488	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	UPI000000D74E	776					SNV	HIPK1,missense_variant,p.Pro776His,ENST00000369558,;HIPK1,missense_variant,p.Pro731His,ENST00000369554,NM_198268.2;HIPK1,missense_variant,p.Pro402His,ENST00000340480,NM_198269.2;HIPK1,missense_variant,p.Pro382His,ENST00000406344,;HIPK1,missense_variant,p.Pro57His,ENST00000361587,;HIPK1,missense_variant,p.Pro776His,ENST00000426820,;HIPK1,missense_variant,p.Pro731His,ENST00000369555,;HIPK1,missense_variant,p.Pro742His,ENST00000369561,;HIPK1,missense_variant,p.Pro776His,ENST00000369559,NM_152696.3;HIPK1,missense_variant,p.Pro382His,ENST00000369553,NM_181358.2;	uc001eem.2	c.2327C>A	2559/8157	1	1			c.2327C>A						1	SNP	c.(2326-2328)CCC>CAC	54	54			ovary(4)	4	Broad	homeodomain-interacting protein kinase 1 isoform			114508840		0.552	ENSG00000163349	6986	g.chr1:114508840C>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			365			365	128.463304	KEEP	25	22	0.468085106	37	43	25	22	0.468085106	130.102158	37	43	0.375	1	0	0	0	0	1	0	0	0	--	--		0	A			HIPK1_uc001eel.2_Missense_Mutation_p.P776H|HIPK1_uc001een.2_Missense_Mutation_p.P776H|HIPK1_uc001eeo.2_Missense_Mutation_p.P402H|HIPK1_uc001eep.2_Missense_Mutation_p.P382H|HIPK1_uc001eeq.2_Missense_Mutation_p.P68H	85	GBM-06-2562-TP	p.P776H	C	TCTGTCCAGCCCACAGCAATG	NM_198268	NP_938009	114508840	Q86Z02	HIPK1_HUMAN	0		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	11	2488	+	A	A	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	Missense_Mutation	776						
HIPK1	0	broad.mit.edu	GRCh37	1	114500841	114500841	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1836-01	TCGA-27-1836-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369558.1:c.1909G>A	p.Gly637Arg	p.G637R	ENST00000369558		637	Gga/Aga	0			1			A	G/R	uc001eem.2	protein_coding	YES	CCDS867.1			1909/3633									ovary(4)	4	c.(1909-1911)GGA>AGA			hmmpanther:PTHR24058,hmmpanther:PTHR24058:SF43	homeodomain-interacting protein kinase 1 isoform				ENSP00000358571		16-Aug									COSM3399551,COSM3399550	16-Aug	.		ENST00000369558	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	ENSG00000163349	g.chr1:114500841G>A	19006			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=HIPK1_HUMAN&rb=519&re=698&var=G637R	NA	getma.org/?cm=var&var=hg19,1,114500841,G,A&fts=all	G637R	--	--	1																																		HIPK1_uc001eel.2_Missense_Mutation_p.G637R|HIPK1_uc001een.2_Missense_Mutation_p.G637R|HIPK1_uc001eeo.2_Missense_Mutation_p.G263R|HIPK1_uc001eep.2_Missense_Mutation_p.G243R	1,1	1		benign(0.225)	p.G637R	NM_198268	NP_938009		tolerated(0.33)	1,1	HIPK1_HUMAN	HIPK1	HGNC	Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	D6RF28_HUMAN,D6RC95_HUMAN		8	2070	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	UPI000000D74E	637					SNV	HIPK1,missense_variant,p.Gly637Arg,ENST00000369558,;HIPK1,missense_variant,p.Gly637Arg,ENST00000369554,NM_198268.2;HIPK1,missense_variant,p.Gly263Arg,ENST00000340480,NM_198269.2;HIPK1,missense_variant,p.Gly243Arg,ENST00000406344,;HIPK1,missense_variant,p.Gly637Arg,ENST00000426820,;HIPK1,missense_variant,p.Gly637Arg,ENST00000369555,;HIPK1,missense_variant,p.Gly603Arg,ENST00000369561,;HIPK1,missense_variant,p.Gly637Arg,ENST00000369559,NM_152696.3;HIPK1,missense_variant,p.Gly243Arg,ENST00000369553,NM_181358.2;	uc001eem.2	c.1909G>A	2141/8157	1	1			c.1909G>A						1	SNP	c.(1909-1911)GGA>AGA	60	60			ovary(4)	4	Broad	homeodomain-interacting protein kinase 1 isoform			114500841		0.463	ENSG00000163349	6986	g.chr1:114500841G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			365			365	110.168688	KEEP	22	18	-1	36	36	22	18	-1	112.227011	36	36	0.349515	1	0	0	0	0	1	0	0	0	--	--		0	A			HIPK1_uc001eel.2_Missense_Mutation_p.G637R|HIPK1_uc001een.2_Missense_Mutation_p.G637R|HIPK1_uc001eeo.2_Missense_Mutation_p.G263R|HIPK1_uc001eep.2_Missense_Mutation_p.G243R	195	GBM-27-1836-TP	p.G637R	G	CTTGCAGCCTGGAACCACCCA	NM_198268	NP_938009	114500841	Q86Z02	HIPK1_HUMAN	0		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	8	2070	+	A	A	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	Missense_Mutation	637						
HIPK2	28996	broad.mit.edu	GRCh37	7	139281490	139281490	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01	TCGA-02-2483-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000406875.3:c.2690A>G	p.Glu897Gly	p.E897G	ENST00000406875	NM_022740.4	897	gAg/gGg	0			1			C	E/G	uc003vvf.3	protein_coding	YES				2690/3597									ovary(3)|central_nervous_system(3)|skin(1)	7	c.(2689-2691)GAG>GGG				homeodomain interacting protein kinase 2 isoform				ENSP00000385571		15-Dec									COSM3748355,COSM3748356	15-Dec	.		ENST00000406875	Transcript			apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	ENSG00000064393	g.chr7:139281490T>C	14402			MODERATE								--	--	1																																		HIPK2_uc003vvd.3_Missense_Mutation_p.E870G	1,1	1		benign(0.117)	p.E897G	NM_022740	NP_073577		deleterious(0)	1,1	HIPK2_HUMAN	HIPK2	HGNC	Q9H2X6	HIPK2_HUMAN			A4D1R9_HUMAN		12	2864	-	Melanoma(164;0.205)		UPI000012C71E	897	DTDEEEE->NFNQQQQ: Loss of SUMO and CBX4 interaction, and impaired nuclear and PML-nuclear bodies localization.		Interaction with TP53 and TP73.|Required for localization to nuclear speckles (By similarity).|Interaction with UBE2I (By similarity).|SUMO interaction motifs (SIM); required for nuclear localization and kinase activity.|Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).		SNV	HIPK2,missense_variant,p.Glu897Gly,ENST00000406875,NM_022740.4;HIPK2,missense_variant,p.Glu870Gly,ENST00000428878,;HIPK2,intron_variant,,ENST00000342645,;	uc003vvf.3	c.2690A>G	2785/15049	3	3			c.2690A>G						7	SNP	c.(2689-2691)GAG>GGG	56	56			ovary(3)|central_nervous_system(3)|skin(1)	7	Broad	homeodomain interacting protein kinase 2 isoform			139281490		0.602	ENSG00000064393	6987	g.chr7:139281490T>C	apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			363			363	255.635443	KEEP	40	48	-1	48	57	40	48	-1	256.10465	48	57	0.443114	1	0	0	0	0	1	0	0	0	--	--		0	C			HIPK2_uc003vvd.3_Missense_Mutation_p.E870G	6	GBM-02-2483-TP	p.E897G	T	CTGTTCCTCCTCCTCGTCCGT	NM_022740	NP_073577	139281490	Q9H2X6	HIPK2_HUMAN	0			12	2864	-	C	C	Melanoma(164;0.205)		Missense_Mutation	897	DTDEEEE->NFNQQQQ: Loss of SUMO and CBX4 interaction, and impaired nuclear and PML-nuclear bodies localization.		Interaction with TP53 and TP73.|Required for localization to nuclear speckles (By similarity).|Interaction with UBE2I (By similarity).|SUMO interaction motifs (SIM); required for nuclear localization and kinase activity.|Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).			
HIPK2	28996	broad.mit.edu	GRCh37	7	139316027	139316027	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01	TCGA-06-0192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000406875.3:c.1231C>T	p.Arg411Trp	p.R411W	ENST00000406875	NM_022740.4	411	Cgg/Tgg	0			1			A	R/W	uc003vvf.3	protein_coding	YES				1231/3597									ovary(3)|central_nervous_system(3)|skin(1)	7	c.(1231-1233)CGG>TGG			PROSITE_profiles:PS50011,hmmpanther:PTHR24058:SF45,hmmpanther:PTHR24058,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	homeodomain interacting protein kinase 2 isoform				ENSP00000385571		15-Apr	2.48E-05					4.32E-05			rs762809580,COSM3411649,COSM3411651,COSM3411650	15-Apr	.		ENST00000406875	Transcript			apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	ENSG00000064393	g.chr7:139316027G>A	14402			MODERATE								--	--	1																																		HIPK2_uc003vvd.3_Missense_Mutation_p.R411W	0,1,1,1	1		probably_damaging(0.997)	p.R411W	NM_022740	NP_073577		deleterious(0)	0,1,1,1	HIPK2_HUMAN	HIPK2	HGNC	Q9H2X6	HIPK2_HUMAN			A4D1R9_HUMAN		4	1405	-	Melanoma(164;0.205)		UPI000012C71E	411			Protein kinase.|Interaction with DAXX.		SNV	HIPK2,missense_variant,p.Arg411Trp,ENST00000406875,NM_022740.4;HIPK2,missense_variant,p.Arg411Trp,ENST00000428878,;HIPK2,missense_variant,p.Arg411Trp,ENST00000342645,;	uc003vvf.3	c.1231C>T	1326/15049	2	2			c.1231C>T						7	SNP	c.(1231-1233)CGG>TGG	29	29			ovary(3)|central_nervous_system(3)|skin(1)	7	Broad	homeodomain interacting protein kinase 2 isoform			139316027		0.408	ENSG00000064393	6987	g.chr7:139316027G>A	apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			363			363	10.256023	KEEP	4	3	-1	17	8	4	3	-1	13.196815	17	8	0.172414	1	0	0	0	0	1	0	0	0	--	--		0	A			HIPK2_uc003vvd.3_Missense_Mutation_p.R411W	44	GBM-06-0192-TP	p.R411W	G	GAAATATACCGAATCTGCAAG	NM_022740	NP_073577	139316027	Q9H2X6	HIPK2_HUMAN	0			4	1405	-	A	A	Melanoma(164;0.205)		Missense_Mutation	411			Protein kinase.|Interaction with DAXX.			
HIPK2	28996	broad.mit.edu	GRCh37	7	139416214	139416214	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0749-01	TCGA-06-0749-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000406875.3:c.620G>A	p.Arg207Gln	p.R207Q	ENST00000406875	NM_022740.4	207	cGa/cAa	0			1			T	R/Q	uc003vvf.3	protein_coding	YES				620/3597									ovary(3)|central_nervous_system(3)|skin(1)	7	c.(619-621)CGA>CAA			PROSITE_profiles:PS50011,hmmpanther:PTHR24058:SF45,hmmpanther:PTHR24058,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	homeodomain interacting protein kinase 2 isoform				ENSP00000385571		15-Feb									rs778077114,COSM3411652,COSM3411654,COSM3411653	15-Feb	.		ENST00000406875	Transcript			apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	ENSG00000064393	g.chr7:139416214C>T	14402			MODERATE								--	--	1																																		HIPK2_uc003vvd.3_Missense_Mutation_p.R207Q	0,1,1,1	1		probably_damaging(0.979)	p.R207Q	NM_022740	NP_073577		deleterious(0)	0,1,1,1	HIPK2_HUMAN	HIPK2	HGNC	Q9H2X6	HIPK2_HUMAN			A4D1R9_HUMAN		2	794	-	Melanoma(164;0.205)		UPI000012C71E	207			ATP (Probable).|Protein kinase.|Transcriptional corepression (By similarity).|Interaction with DAXX.		SNV	HIPK2,missense_variant,p.Arg207Gln,ENST00000406875,NM_022740.4;HIPK2,missense_variant,p.Arg207Gln,ENST00000428878,;HIPK2,missense_variant,p.Arg207Gln,ENST00000342645,;	uc003vvf.3	c.620G>A	715/15049	2	2			c.620G>A						7	SNP	c.(619-621)CGA>CAA	46	46			ovary(3)|central_nervous_system(3)|skin(1)	7	Broad	homeodomain interacting protein kinase 2 isoform			139416214		0.552	ENSG00000064393	6987	g.chr7:139416214C>T	apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			363			363	-20.137829	KEEP	3	5	-1	100	63	3	5	-1	15.354533	100	63	0.04878	1	0	0	0	0	1	0	0	0	--	--		0	T			HIPK2_uc003vvd.3_Missense_Mutation_p.R207Q	69	GBM-06-0749-TP	p.R207Q	C	AAACGTCCCTCGGCCCAAGAA	NM_022740	NP_073577	139416214	Q9H2X6	HIPK2_HUMAN	0			2	794	-	T	T	Melanoma(164;0.205)		Missense_Mutation	207			ATP (Probable).|Protein kinase.|Transcriptional corepression (By similarity).|Interaction with DAXX.			
HIPK2	28996	broad.mit.edu	GRCh37	7	139259877	139259877	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000406875.3:c.3123C>G	p.Ser1041Arg	p.S1041R	ENST00000406875	NM_022740.4	1041	agC/agG	0			1			C	S/R	uc003vvf.3	protein_coding	YES				3123/3597									ovary(3)|central_nervous_system(3)|skin(1)	7	c.(3121-3123)AGC>AGG			Low_complexity_(Seg):seg	homeodomain interacting protein kinase 2 isoform				ENSP00000385571		14/15									COSM3411647,COSM3411648	14/15	.		ENST00000406875	Transcript			apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	ENSG00000064393	g.chr7:139259877G>C	14402			MODERATE								--	--	1																																		HIPK2_uc003vvd.3_Missense_Mutation_p.S1014R	1,1	1		possibly_damaging(0.791)	p.S1041R	NM_022740	NP_073577		deleterious(0)	1,1	HIPK2_HUMAN	HIPK2	HGNC	Q9H2X6	HIPK2_HUMAN			A4D1R9_HUMAN		14	3297	-	Melanoma(164;0.205)		UPI000012C71E	1041			Autoinhibitory domain (AID).|Interaction with AXIN1 (By similarity).		SNV	HIPK2,missense_variant,p.Ser1041Arg,ENST00000406875,NM_022740.4;HIPK2,missense_variant,p.Ser1014Arg,ENST00000428878,;	uc003vvf.3	c.3123C>G	3218/15049	3	3			c.3123C>G						7	SNP	c.(3121-3123)AGC>AGG	6	6			ovary(3)|central_nervous_system(3)|skin(1)	7	Broad	homeodomain interacting protein kinase 2 isoform			139259877		0.672	ENSG00000064393	6987	g.chr7:139259877G>C	apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			363			363	8.483126	KEEP	2	4	-1	11	13	2	4	-1	11.23544	11	13	0.16	1	0	0	0	0	1	0	0	0	--	--		0	C			HIPK2_uc003vvd.3_Missense_Mutation_p.S1014R	102	GBM-06-5858-TP	p.S1041R	G	GGCTTACCTGGCTGAGATTGA	NM_022740	NP_073577	139259877	Q9H2X6	HIPK2_HUMAN	0			14	3297	-	C	C	Melanoma(164;0.205)		Missense_Mutation	1041			Autoinhibitory domain (AID).|Interaction with AXIN1 (By similarity).			
HIPK2	0	broad.mit.edu	GRCh37	7	139416741	139416741	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-16-0861-01	TCGA-16-0861-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000406875.3:c.93G>A	p.Leu31=	p.L31=	ENST00000406875	NM_022740.4	31	ctG/ctA	0			1			T	L	uc003vvf.3	protein_coding	YES				93/3597									ovary(3)|central_nervous_system(3)|skin(1)	7	c.(91-93)CTG>CTA			hmmpanther:PTHR24058:SF45,hmmpanther:PTHR24058	homeodomain interacting protein kinase 2 isoform				ENSP00000385571		15-Feb									COSM3411655,COSM2860907	15-Feb	.		ENST00000406875	Transcript			apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	ENSG00000064393	g.chr7:139416741C>T	14402			LOW								--	--	1																																		HIPK2_uc003vvd.3_Silent_p.L31L	1,1	1			p.L31L	NM_022740	NP_073577			1,1	HIPK2_HUMAN	HIPK2	HGNC	Q9H2X6	HIPK2_HUMAN			A4D1R9_HUMAN		2	267	-	Melanoma(164;0.205)		UPI000012C71E	31					SNV	HIPK2,synonymous_variant,p.=,ENST00000406875,NM_022740.4;HIPK2,synonymous_variant,p.=,ENST00000428878,;HIPK2,synonymous_variant,p.=,ENST00000342645,;	uc003vvf.3	c.93G>A	188/15049	1	1			c.93G>A						7	SNP	c.(91-93)CTG>CTA	9	9			ovary(3)|central_nervous_system(3)|skin(1)	7	Broad	homeodomain interacting protein kinase 2 isoform			139416741		0.493	ENSG00000064393	6987	g.chr7:139416741C>T	apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			363			363	1.931177	KEEP	3	3	-1	30	25	3	3	-1	10.954664	30	25	0.092593	1	0	0	0	0	0	0	1	0	--	--		0	T			HIPK2_uc003vvd.3_Silent_p.L31L	156	GBM-16-0861-TP	p.L31L	C	GCTCTATTTTCAGTTTCTTCA	NM_022740	NP_073577	139416741	Q9H2X6	HIPK2_HUMAN	0			2	267	-	T	T	Melanoma(164;0.205)		Silent	31						
HIPK3	10114	broad.mit.edu	GRCh37	11	33375092	33375092	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0747-01	TCGA-06-0747-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303296.4:c.3626T>C	p.Leu1209Pro	p.L1209P	ENST00000303296	NM_005734.4	1209	cTc/cCc	0			1			C	L/P	uc001mul.1	protein_coding	YES	CCDS7884.1			3626/3648									large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5	c.(3625-3627)CTC>CCC				homeodomain interacting protein kinase 3 isoform				ENSP00000304226		17/17	0.000148	0.000687				0.000136			rs762078398,COSM3747873	17/17	common_variant		ENST00000303296	Transcript			anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	ENSG00000110422	g.chr11:33375092T>C	4915			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=HIPK3_HUMAN&rb=1139&re=1215&var=L1209P	NA	getma.org/?cm=var&var=hg19,11,33375092,T,C&fts=all	L1209P	--	--	1																																		HIPK3_uc001mum.1_Missense_Mutation_p.L1188P|HIPK3_uc009yjv.1_Missense_Mutation_p.L1188P	0,1	1		probably_damaging(0.959)	p.L1209P	NM_005734	NP_005725		deleterious(0.04)	0,1	HIPK3_HUMAN	HIPK3	HGNC	Q9H422	HIPK3_HUMAN			E9PKD7_HUMAN		17	3896	+			UPI000006D7F8	1209					SNV	HIPK3,missense_variant,p.Leu1209Pro,ENST00000303296,NM_005734.4;HIPK3,missense_variant,p.Leu1188Pro,ENST00000379016,NM_001048200.2;HIPK3,missense_variant,p.Leu1188Pro,ENST00000456517,NM_001278162.1;HIPK3,missense_variant,p.Leu1188Pro,ENST00000525975,NM_001278163.1;AL122015.1,upstream_gene_variant,,ENST00000411202,;	uc001mul.1	c.3626T>C	3931/7408	3	3			c.3626T>C						11	SNP	c.(3625-3627)CTC>CCC	5	5			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5	Broad	homeodomain interacting protein kinase 3 isoform			33375092		0.363	ENSG00000110422	6988	g.chr11:33375092T>C	anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			376			376	-3.75315	KEEP	20	5	-1	38	55	20	5	-1	6.923972	38	55	0.152941	1	0	0	0	0	1	0	0	0	--	--		0	C			HIPK3_uc001mum.1_Missense_Mutation_p.L1188P|HIPK3_uc009yjv.1_Missense_Mutation_p.L1188P	68	GBM-06-0747-TP	p.L1209P	T	CCAACAAAACTCAGCCAGTAT	NM_005734	NP_005725	33375092	Q9H422	HIPK3_HUMAN	0			17	3896	+	C	C			Missense_Mutation	1209						
HIPK3	0	broad.mit.edu	GRCh37	11	33362619	33362619	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-27-2523-01	TCGA-27-2523-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303296.4:c.1719C>A	p.Ser573Arg	p.S573R	ENST00000303296	NM_005734.4	573	agC/agA	0			1			A	S/R	uc001mul.1	protein_coding	YES	CCDS7884.1			1719/3648									large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5	c.(1717-1719)AGC>AGA			hmmpanther:PTHR24058:SF29,hmmpanther:PTHR24058	homeodomain interacting protein kinase 3 isoform				ENSP00000304226		17-Jul									COSM3397642	17-Jul	.		ENST00000303296	Transcript			anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	ENSG00000110422	g.chr11:33362619C>A	4915			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=HIPK3_HUMAN&rb=526&re=705&var=S573R	NA	getma.org/?cm=var&var=hg19,11,33362619,C,A&fts=all	S573R	--	--	1																																		HIPK3_uc001mum.1_Missense_Mutation_p.S573R|HIPK3_uc009yjv.1_Missense_Mutation_p.S573R	1	1		benign(0.043)	p.S573R	NM_005734	NP_005725		deleterious(0.01)	1	HIPK3_HUMAN	HIPK3	HGNC	Q9H422	HIPK3_HUMAN			E9PKD7_HUMAN		7	1989	+			UPI000006D7F8	573					SNV	HIPK3,missense_variant,p.Ser573Arg,ENST00000303296,NM_005734.4;HIPK3,missense_variant,p.Ser573Arg,ENST00000379016,NM_001048200.2;HIPK3,missense_variant,p.Ser573Arg,ENST00000456517,NM_001278162.1;HIPK3,missense_variant,p.Ser573Arg,ENST00000525975,NM_001278163.1;HIPK3,downstream_gene_variant,,ENST00000534262,;	uc001mul.1	c.1719C>A	2024/7408	2	2			c.1719C>A						11	SNP	c.(1717-1719)AGC>AGA	32	32			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5	Broad	homeodomain interacting protein kinase 3 isoform			33362619		0.318	ENSG00000110422	6988	g.chr11:33362619C>A	anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			376			376	-19.106006	KEEP	2	2	0.5	47	74	2	2	0.5	7.690023	47	74	0.035088	1	0	0	0	0	1	0	0	0	--	--		0	A			HIPK3_uc001mum.1_Missense_Mutation_p.S573R|HIPK3_uc009yjv.1_Missense_Mutation_p.S573R	201	GBM-27-2523-TP	p.S573R	C	TTGCTTCAAGCAGTACTGCTA	NM_005734	NP_005725	33362619	Q9H422	HIPK3_HUMAN	0			7	1989	+	A	A			Missense_Mutation	573						
HIPK4	147746		GRCh37	19	40890043	40890043	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-2510-01	TCGA-28-2510-01																				ENST00000291823.2:c.469A>G	p.Ile157Val	p.I157V	ENST00000291823	NM_144685.3	157	Att/Gtt	0																																																																																																																																																																																																																																												
HIRA	7290	broad.mit.edu	GRCh37	22	19318996	19318996	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0877-01	TCGA-06-0877-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263208.5:c.3021T>C	p.Cys1007=	p.C1007=	ENST00000263208	NM_003325.3	1007	tgT/tgC	0			1			G	C	uc002zpf.1	protein_coding	YES	CCDS13759.1			3021/3054									ovary(1)	1	c.(3019-3021)TGT>TGC			hmmpanther:PTHR13831,hmmpanther:PTHR13831:SF0	HIR histone cell cycle regulation defective				ENSP00000263208		25/25									COSM3748163	25/25	.		ENST00000263208	Transcript	1		chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	ENSG00000100084	g.chr22:19318996A>G	4916			LOW								--	--	1																																		HIRA_uc011agx.1_Missense_Mutation_p.S844P|HIRA_uc010grn.1_Silent_p.C800C|HIRA_uc010gro.1_Silent_p.C963C	1	1			p.C1007C	NM_003325	NP_003316			1	HIRA_HUMAN	HIRA	HGNC	P54198	HIRA_HUMAN			F5H4M2_HUMAN		25	3241	-	Colorectal(54;0.0993)		UPI0000074373	1007			Interaction with histone H4.		SNV	HIRA,synonymous_variant,p.=,ENST00000263208,NM_003325.3;HIRA,synonymous_variant,p.=,ENST00000541063,;HIRA,synonymous_variant,p.=,ENST00000340170,;	uc002zpf.1	c.3021T>C	3278/4053	3	3			c.3021T>C						22	SNP	c.(3019-3021)TGT>TGC	3	3			ovary(1)	1	Broad	HIR histone cell cycle regulation defective			19318996		0.617	ENSG00000100084	6990	g.chr22:19318996A>G	chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity							-20.559135	KEEP	3	0	-1	64	76	3	0	-1	7.132563	64	76	0.026786	1	0	0	0	0	0	0	1	0	--	--		0	G			HIRA_uc011agx.1_Missense_Mutation_p.S844P|HIRA_uc010grn.1_Silent_p.C800C|HIRA_uc010gro.1_Silent_p.C963C	73	GBM-06-0877-TP	p.C1007C	A	GCTGTTCCTGACACTCGGTGA	NM_003325	NP_003316	19318996	P54198	HIRA_HUMAN	0			25	3241	-	G	G	Colorectal(54;0.0993)		Silent	1007			Interaction with histone H4.			
HIRA	0	broad.mit.edu	GRCh37	22	19365576	19365576	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1991-01	TCGA-32-1991-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263208.5:c.1429G>A	p.Ala477Thr	p.A477T	ENST00000263208	NM_003325.3	477	Gca/Aca	0			1			T	A/T	uc002zpf.1	protein_coding	YES	CCDS13759.1			1429/3054									ovary(1)	1	c.(1429-1431)GCA>ACA			hmmpanther:PTHR13831,hmmpanther:PTHR13831:SF0	HIR histone cell cycle regulation defective				ENSP00000263208		14/25									COSM3405507	14/25	.		ENST00000263208	Transcript	1		chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	ENSG00000100084	g.chr22:19365576C>T	4916			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=HIRA_HUMAN&rb=472&re=671&var=A477T	NA	getma.org/?cm=var&var=hg19,22,19365576,C,T&fts=all	A477T	--	--	1																																		HIRA_uc011agx.1_Missense_Mutation_p.A343T|HIRA_uc010grn.1_Missense_Mutation_p.A477T|HIRA_uc010gro.1_Missense_Mutation_p.A433T|HIRA_uc010grp.2_RNA	1	1		possibly_damaging(0.784)	p.A477T	NM_003325	NP_003316		tolerated(0.3)	1	HIRA_HUMAN	HIRA	HGNC	P54198	HIRA_HUMAN			F5H4M2_HUMAN		14	1649	-	Colorectal(54;0.0993)		UPI0000074373	477			Interaction with CCNA1.|Interaction with ASF1A.		SNV	HIRA,missense_variant,p.Ala477Thr,ENST00000263208,NM_003325.3;HIRA,missense_variant,p.Ala433Thr,ENST00000541063,;HIRA,missense_variant,p.Ala477Thr,ENST00000340170,;HIRA,missense_variant,p.Ala433Thr,ENST00000546308,;C22orf39,3_prime_UTR_variant,,ENST00000509549,;	uc002zpf.1	c.1429G>A	1686/4053	2	2			c.1429G>A						22	SNP	c.(1429-1431)GCA>ACA	32	32			ovary(1)	1	Broad	HIR histone cell cycle regulation defective			19365576		0.468	ENSG00000100084	6990	g.chr22:19365576C>T	chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity							-85.443105	KEEP	3	3	-1	203	199	3	3	-1	8.76552	203	199	0.016807	1	0	0	0	0	1	0	0	0	--	--		0	T			HIRA_uc011agx.1_Missense_Mutation_p.A343T|HIRA_uc010grn.1_Missense_Mutation_p.A477T|HIRA_uc010gro.1_Missense_Mutation_p.A433T|HIRA_uc010grp.2_RNA	234	GBM-32-1991-TP	p.A477T	C	TTAAAGAATGCCGTGGAGAAG	NM_003325	NP_003316	19365576	P54198	HIRA_HUMAN	0			14	1649	-	T	T	Colorectal(54;0.0993)		Missense_Mutation	477			Interaction with CCNA1.|Interaction with ASF1A.			
HIST1H1C	0	broad.mit.edu	GRCh37	6	26056384	26056385	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C			TCGA-14-1395-01	TCGA-14-1395-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343677.2:c.272dupG	p.Thr92HisfsTer15	p.T92Hfs*15	ENST00000343677	NM_005319.3	91	ggc/ggGc	0			1			C	G/GX	uc003nfw.2	protein_coding	YES	CCDS4577.1			272-273/642									ovary(3)|skin(2)	5	c.(271-273)GGCfs			PROSITE_profiles:PS51504,hmmpanther:PTHR11467:SF23,hmmpanther:PTHR11467,Pfam_domain:PF00538,Gene3D:1.10.10.10,SMART_domains:SM00526,Superfamily_domains:SSF46785,Prints_domain:PR00624	histone cluster 1, H1c				ENSP00000339566		1-Jan										1-Jan	.		ENST00000343677	Transcript			nucleosome assembly	nucleosome|nucleus	DNA binding	ENSG00000187837	g.chr6:26056384_26056385insC	4716			HIGH								--	--	1																																				1			p.G91fs	NM_005319	NP_005310				H12_HUMAN	HIST1H1C	HGNC	P16403	H12_HUMAN					1	315_316	-			UPI0000001BD9	91			H15.		insertion	HIST1H1C,frameshift_variant,p.Thr92HisfsTer15,ENST00000343677,NM_005319.3;	uc003nfw.2	c.272_273insG	315-316/732	5	5			c.272_273insG						6	INS	c.(271-273)GGCfs	17	17			ovary(3)|skin(2)	5	Broad	histone cluster 1, H1c			26056385		0.545	ENSG00000187837	6994	g.chr6:26056384_26056385insC	nucleosome assembly	nucleosome|nucleus	DNA binding																				0.4	1	0	0	1	1	0	0	0	0	--	--		0	C				144	GBM-14-1395-TP	p.G91fs	-	GCACCAGAGTGCCCTTGCTCAC	NM_005319	NP_005310	26056384	P16403	H12_HUMAN	0			1	315_316	-	C	C			Frame_Shift_Ins	91			H15.			
HIST1H1C	0	broad.mit.edu	GRCh37	6	26056237	26056245	+	inframe_deletion	In_Frame_Del	DEL	CTTCTTGGG	CTTCTTGGG	-	rs149712381	by1000genomes	TCGA-27-2526-01	TCGA-27-2526-01	CTTCTTGGG	CTTCTTGGG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343677.2:c.412_420delCCCAAGAAG	p.Pro138_Lys140del	p.P138_K140del	ENST00000343677	NM_005319.3	138	CCCAAGAAG/-	0	-:0.0005		1			-	PKK/-	uc003nfw.2	protein_coding	YES	CCDS4577.1			412-420/642									ovary(3)|skin(2)	5	c.(412-420)CCCAAGAAGdel			Low_complexity_(Seg):seg,hmmpanther:PTHR11467:SF23,hmmpanther:PTHR11467,Prints_domain:PR00624	histone cluster 1, H1c			-:0.0005	ENSP00000339566		1-Jan	0.000214	0.000305	0.000605	0.000231	0.000151	0.000195			rs749190253	1-Jan	common_variant		ENST00000343677	Transcript			nucleosome assembly	nucleosome|nucleus	DNA binding	ENSG00000187837	g.chr6:26056237_26056245delCTTCTTGGG	4716			MODERATE								--	--	1																																				1			p.PKK138del	NM_005319	NP_005310				H12_HUMAN	HIST1H1C	HGNC	P16403	H12_HUMAN					1	455_463	-			UPI0000001BD9	138_140					deletion	HIST1H1C,inframe_deletion,p.Pro138_Lys140del,ENST00000343677,NM_005319.3;	uc003nfw.2	c.412_420delCCCAAGAAG	455-463/732	5	5			c.412_420delCCCAAGAAG						6	DEL	c.(412-420)CCCAAGAAGdel	49	49			ovary(3)|skin(2)	5	Broad	histone cluster 1, H1c			26056245		0.565	ENSG00000187837	6994	g.chr6:26056237_26056245delCTTCTTGGG	nucleosome assembly	nucleosome|nucleus	DNA binding																				0.25	1	1	0	1	0	0	0	0	0	--	--		0	-				203	GBM-27-2526-TP	p.PKK138del	CTTCTTGGG	CGCCAGCCGCCTTCTTGGGCTTCTTGGCT	NM_005319	NP_005310	26056237	P16403	H12_HUMAN	0			1	455_463	-	-	-			In_Frame_Del	138_140						
HIST1H2AA	221613	broad.mit.edu	GRCh37	6	25726579	25726579	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-5856-01	TCGA-06-5856-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297012.3:c.177C>A	p.Leu59=	p.L59=	ENST00000297012	NM_170745.3	59	ctC/ctA	0			1			T	L	uc003nfc.2	protein_coding	YES	CCDS4562.1			177/396										0	c.(175-177)CTC>CTA			hmmpanther:PTHR23430:SF19,hmmpanther:PTHR23430,Gene3D:1.10.20.10,Pfam_domain:PF00125,SMART_domains:SM00414,Superfamily_domains:SSF47113,Prints_domain:PR00620	histone cluster 1, H2aa				ENSP00000297012		1-Jan									COSM3410838	1-Jan	.		ENST00000297012	Transcript			nucleosome assembly	nucleosome|nucleus	DNA binding	ENSG00000164508	g.chr6:25726579G>T	18729			LOW								--	--	1																																		HIST1H2BA_uc003nfd.2_5'Flank	1	1			p.L59L	NM_170745	NP_734466			1	H2A1A_HUMAN	HIST1H2AA	HGNC	Q96QV6	H2A1A_HUMAN					1	212	-			UPI0000073CDD	59					SNV	HIST1H2AA,synonymous_variant,p.=,ENST00000297012,NM_170745.3;HIST1H2BA,upstream_gene_variant,,ENST00000274764,NM_170610.2;	uc003nfc.2	c.177C>A	212/500	2	2			c.177C>A						6	SNP	c.(175-177)CTC>CTA	30	30				0	Broad	histone cluster 1, H2aa			25726579		0.537	ENSG00000164508	6998	g.chr6:25726579G>T	nucleosome assembly	nucleosome|nucleus	DNA binding							117.892506	KEEP	14	27	0.341463415	4	8	14	27	0.341463415	120.75391	4	8	0.755102	1	0	0	0	0	0	0	1	0	--	--		0	T			HIST1H2BA_uc003nfd.2_5'Flank	101	GBM-06-5856-TP	p.L59L	G	TTTCTGCTGTGAGATACTCTA	NM_170745	NP_734466	25726579	Q96QV6	H2A1A_HUMAN	0			1	212	-	T	T			Silent	59						
HIST1H2AA	0	broad.mit.edu	GRCh37	6	25726720	25726720	+	synonymous_variant	Silent	SNP	G	G	A	rs150563946	byFrequency	TCGA-14-0786-01	TCGA-14-0786-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297012.3:c.36C>T	p.Arg12=	p.R12=	ENST00000297012	NM_170745.3	12	cgC/cgT	0	A:0.0007	A:0	1	A:0.0014		A	R	uc003nfc.2	protein_coding	YES	CCDS4562.1			36/396										0	c.(34-36)CGC>CGT			Low_complexity_(Seg):seg,hmmpanther:PTHR23430:SF19,hmmpanther:PTHR23430,Gene3D:1.10.20.10,SMART_domains:SM00414,Superfamily_domains:SSF47113	histone cluster 1, H2aa		A:0	A:0.002	ENSP00000297012	A:0.001	1-Jan	0.00117	0.000595	0.00104	0.000116		0.0017	0.00224	0.000497	rs150563946,COSM3410839	1-Jan	common_variant		ENST00000297012	Transcript		A:0.0004	nucleosome assembly	nucleosome|nucleus	DNA binding	ENSG00000164508	g.chr6:25726720G>A	18729			LOW								--	--	1																																		HIST1H2BA_uc003nfd.2_5'Flank	0,1	1			p.R12R	NM_170745	NP_734466	A:0		0,1	H2A1A_HUMAN	HIST1H2AA	HGNC	Q96QV6	H2A1A_HUMAN					1	71	-			UPI0000073CDD	12					SNV	HIST1H2AA,synonymous_variant,p.=,ENST00000297012,NM_170745.3;HIST1H2BA,upstream_gene_variant,,ENST00000274764,NM_170610.2;	uc003nfc.2	c.36C>T	71/500	1	1			c.36C>T						6	SNP	c.(34-36)CGC>CGT	50	50				0	Broad	histone cluster 1, H2aa			25726720		0.532	ENSG00000164508	6998	g.chr6:25726720G>A	nucleosome assembly	nucleosome|nucleus	DNA binding							138.466305	KEEP	25	31	-1	54	46	25	31	-1	141.460214	54	46	0.34507	1	0	0	0	0	0	0	1	0	--	--		0	A			HIST1H2BA_uc003nfd.2_5'Flank	134	GBM-14-0786-TP	p.R12R	G	TAGACTTGGCGCGTGCTTTTC	NM_170745	NP_734466	25726720	Q96QV6	H2A1A_HUMAN	0			1	71	-	A	A			Silent	12						
HIST1H2AM	0	broad.mit.edu	GRCh37	6	27860752	27860752	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-27-2527-01	TCGA-27-2527-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359611.2:c.176T>A	p.Leu59Gln	p.L59Q	ENST00000359611	NM_003514.2	59	cTa/cAa	0			1			T	L/Q	uc003nkb.1	protein_coding	YES	CCDS4639.1			176/393									ovary(2)	2	c.(175-177)CTA>CAA			Gene3D:1.10.20.10,Pfam_domain:PF00125,Prints_domain:PR00620,hmmpanther:PTHR23430,hmmpanther:PTHR23430:SF24,SMART_domains:SM00414,Superfamily_domains:SSF47113	histone cluster 1, H2am				ENSP00000352627		1-Jan									COSM3410860	1-Jan	.		ENST00000359611	Transcript			nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	ENSG00000233224	g.chr6:27860752A>T	4735			MODERATE		4.425	high	getma.org/?cm=msa&ty=f&p=H2A1_HUMAN&rb=18&re=91&var=L59Q	getma.org/pdb.php?prot=H2A1_HUMAN&from=18&to=91&var=L59Q	getma.org/?cm=var&var=hg19,6,27860752,A,T&fts=all	L59Q	--	--	1																																		HIST1H3J_uc003nka.2_5'Flank|HIST1H2BO_uc003nkc.1_5'Flank	1	1		probably_damaging(0.998)	p.L59Q	NM_003514	NP_003505		deleterious_low_confidence(0)	1	H2A1_HUMAN	HIST1H2AM	HGNC	P0C0S8	H2A1_HUMAN			A4FTV9_HUMAN,A3KPC7_HUMAN		1	212	-			UPI0000000E01	59					SNV	HIST1H2AM,missense_variant,p.Leu59Gln,ENST00000359611,NM_003514.2;HIST1H3J,upstream_gene_variant,,ENST00000359303,NM_003535.2;HIST1H2BO,upstream_gene_variant,,ENST00000303806,NM_003527.4;RNU7-26P,downstream_gene_variant,,ENST00000458980,;HIST1H3J,non_coding_transcript_exon_variant,,ENST00000479986,;	uc003nkb.1	c.176T>A	212/487	2	2			c.176T>A						6	SNP	c.(175-177)CTA>CAA	32	32			ovary(2)	2	Broad	histone cluster 1, H2am			27860752		0.662	ENSG00000233224	7009	g.chr6:27860752A>T	nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding							2.083567	KEEP	14	2	-1	74	91	14	2	-1	28.016099	74	91	0.086667	1	0	0	0	0	1	0	0	0	--	--		0	T			HIST1H3J_uc003nka.2_5'Flank|HIST1H2BO_uc003nkc.1_5'Flank	204	GBM-27-2527-TP	p.L59Q	A	CTCGGCAGTTAGGTACTCCAG	NM_003514	NP_003505	27860752	P0C0S8	H2A1_HUMAN	0			1	212	-	T	T			Missense_Mutation	59						
HIST1H2BA	0	broad.mit.edu	GRCh37	6	25727485	25727485	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-1034-01	TCGA-14-1034-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274764.2:c.349A>G	p.Thr117Ala	p.T117A	ENST00000274764	NM_170610.2	117	Acc/Gcc	0			1			G	T/A	uc003nfd.2	protein_coding	YES	CCDS4563.1			349/384									kidney(1)	1	c.(349-351)ACC>GCC			Gene3D:1.10.20.10,Prints_domain:PR00621,hmmpanther:PTHR23428,SMART_domains:SM00427,Superfamily_domains:SSF47113	histone cluster 1, H2ba				ENSP00000274764		1-Jan									COSM2155259	1-Jan	.		ENST00000274764	Transcript			nucleosome assembly	nucleosome|nucleus	DNA binding	ENSG00000146047	g.chr6:25727485A>G	18730			MODERATE		4.045	high	getma.org/?cm=msa&ty=f&p=H2B1A_HUMAN&rb=74&re=127&var=T117A	getma.org/pdb.php?prot=H2B1A_HUMAN&from=104&to=127&var=T117A	getma.org/?cm=var&var=hg19,6,25727485,A,G&fts=all	T117A	--	--	1																																		HIST1H2AA_uc003nfc.2_5'Flank	1	1		probably_damaging(0.992)	p.T117A	NM_170610	NP_733759		deleterious_low_confidence(0.02)	1	H2B1A_HUMAN	HIST1H2BA	HGNC	Q96A08	H2B1A_HUMAN					1	349	+			UPI0000073C6D	117					SNV	HIST1H2BA,missense_variant,p.Thr117Ala,ENST00000274764,NM_170610.2;HIST1H2AA,upstream_gene_variant,,ENST00000297012,NM_170745.3;HIST1H2BPS1,downstream_gene_variant,,ENST00000319443,;HIST1H2BPS1,downstream_gene_variant,,ENST00000369177,;	uc003nfd.2	c.349A>G	349/437	3	3			c.349A>G						6	SNP	c.(349-351)ACC>GCC	8	8			kidney(1)	1	Broad	histone cluster 1, H2ba			25727485		0.488	ENSG00000146047	7010	g.chr6:25727485A>G	nucleosome assembly	nucleosome|nucleus	DNA binding							28.594568	KEEP	5	9	-1	22	34	5	9	-1	33.102509	22	34	0.216667	1	0	0	0	0	1	0	0	0	--	--		0	G			HIST1H2AA_uc003nfc.2_5'Flank	142	GBM-14-1034-TP	p.T117A	A	GTCTGAGGGCACCAAGGCTGT	NM_170610	NP_733759	25727485	Q96A08	H2B1A_HUMAN	0			1	349	+	G	G			Missense_Mutation	117						
HIST1H2BE	8344	broad.mit.edu	GRCh37	6	26184184	26184184	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-01	TCGA-06-0190-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356530.3:c.161G>A	p.Gly54Asp	p.G54D	ENST00000356530	NM_003523.2	54	gGc/gAc	0			1			A	G/D	uc003ngt.2	protein_coding	YES	CCDS4588.1			161/381										0	c.(160-162)GGC>GAC			hmmpanther:PTHR23428,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00427,Superfamily_domains:SSF47113,Prints_domain:PR00621	histone cluster 1, H2be				ENSP00000348924		1-Jan									COSM3410847	1-Jan	.		ENST00000356530	Transcript			defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	ENSG00000197697	g.chr6:26184184G>A	4753			MODERATE								--	--	1																																			1	1		benign(0.264)	p.G54D	NM_003523	NP_003514		deleterious_low_confidence(0)	1	H2B1C_HUMAN	HIST1H2BE	HGNC	P62807	H2B1C_HUMAN			B2R4S9_HUMAN		1	161	+			UPI0000000C24	54					SNV	HIST1H2BE,missense_variant,p.Gly54Asp,ENST00000356530,NM_003523.2;HIST1H4D,downstream_gene_variant,,ENST00000340756,NM_003539.3;	uc003ngt.2	c.161G>A	227/497	1	1			c.161G>A						6	SNP	c.(160-162)GGC>GAC	57	57				0	Broad	histone cluster 1, H2be			26184184		0.577	ENSG00000197697	7014	g.chr6:26184184G>A	defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding							-96.940643	KEEP	3	3	-1	215	204	3	3	-1	7.906399	215	204	0.01292	1	0	0	0	0	1	0	0	0	--	--		0	A				43	GBM-06-0190-TP	p.G54D	G	CCCGACACCGGCATCTCCTCT	NM_003523	NP_003514	26184184	P62807	H2B1C_HUMAN	0			1	161	+	A	A			Missense_Mutation	54						
HIST1H2BE	0	broad.mit.edu	GRCh37	6	26184206	26184207	+	inframe_insertion	In_Frame_Ins	INS	-	-	ATC			TCGA-27-2528-01	TCGA-27-2528-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356530.3:c.186_188dupCAT	p.Ile62dup	p.I62dup	ENST00000356530	NM_003523.2	61	-/ATC	0			1			ATC	-/I	uc003ngt.2	protein_coding	YES	CCDS4588.1			183-184/381										0	c.(181-186)insATC			hmmpanther:PTHR23428,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00427,Superfamily_domains:SSF47113,Prints_domain:PR00621	histone cluster 1, H2be				ENSP00000348924		1-Jan										1-Jan	.		ENST00000356530	Transcript			defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	ENSG00000197697	g.chr6:26184206_26184207insATC	4753	5		MODERATE								--	--	1																																				1			p.62_63insI	NM_003523	NP_003514				H2B1C_HUMAN	HIST1H2BE	HGNC	P62807	H2B1C_HUMAN			B2R4S9_HUMAN		1	183_184	+			UPI0000000C24	62_63					insertion	HIST1H2BE,inframe_insertion,p.Ile62dup,ENST00000356530,NM_003523.2;HIST1H4D,downstream_gene_variant,,ENST00000340756,NM_003539.3;	uc003ngt.2	c.183_184insATC	249-250/497	5	5			c.183_184insATC						6	INS	c.(181-186)insATC	8	8				0	Broad	histone cluster 1, H2be			26184207		0.574	ENSG00000197697	7014	g.chr6:26184206_26184207insATC	defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding																				0.26	1	0	0	1	1	0	0	0	0	--	--		0	ATC				205	GBM-27-2528-TP	p.62_63insI	-	AAGCCATGGGGATCATGAATTC	NM_003523	NP_003514	26184206	P62807	H2B1C_HUMAN	0			1	183_184	+	ATC	ATC			In_Frame_Ins	62_63						
HIST1H2BE	0	broad.mit.edu	GRCh37	6	26184091	26184093	+	inframe_deletion	In_Frame_Del	DEL	AGA	AGA	-			TCGA-28-2502-01	TCGA-28-2502-01	AGA	AGA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356530.3:c.73_75delAAG	p.Lys25del	p.K25del	ENST00000356530	NM_003523.2	23	cAGAag/cag	0		-:0	1	-:0		-	QK/Q	uc003ngt.2	protein_coding	YES	CCDS4588.1			68-70/381										0	c.(67-72)CAGAAG>CAG			Low_complexity_(Seg):seg,hmmpanther:PTHR23428,Gene3D:1.10.20.10,Superfamily_domains:SSF47113	histone cluster 1, H2be		-:0.001		ENSP00000348924	-:0	1-Jan									rs549755584	1-Jan	.		ENST00000356530	Transcript		-:0.0006	defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	ENSG00000197697	g.chr6:26184091_26184093delAGA	4753	5		MODERATE								--	--	1																																				1			p.K25del	NM_003523	NP_003514	-:0.002			H2B1C_HUMAN	HIST1H2BE	HGNC	P62807	H2B1C_HUMAN			B2R4S9_HUMAN		1	68_70	+			UPI0000000C24	25					deletion	HIST1H2BE,inframe_deletion,p.Lys25del,ENST00000356530,NM_003523.2;HIST1H4D,downstream_gene_variant,,ENST00000340756,NM_003539.3;	uc003ngt.2	c.68_70delAGA	134-136/497	5	5			c.68_70delAGA						6	DEL	c.(67-72)CAGAAG>CAG	2	2				0	Broad	histone cluster 1, H2be			26184093		0.576	ENSG00000197697	7014	g.chr6:26184091_26184093delAGA	defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding																				0.21	1	1	0	1	0	0	0	0	0	--	--		0	-				210	GBM-28-2502-TP	p.K25del	AGA	ACCAAGGCGCAGAAGAAGGACGG	NM_003523	NP_003514	26184091	P62807	H2B1C_HUMAN	0			1	68_70	+	-	-			In_Frame_Del	25						
HIST1H2BF	8343	broad.mit.edu	GRCh37	6	26199947	26199947	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01	TCGA-02-2485-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359985.1:c.161G>A	p.Gly54Asp	p.G54D	ENST00000359985	NM_003522.3	54	gGc/gAc	0			1			A	G/D	uc003ngx.2	protein_coding	YES	CCDS4592.1			161/381										0	c.(160-162)GGC>GAC			Gene3D:1.10.20.10,Pfam_domain:PF00125,Prints_domain:PR00621,hmmpanther:PTHR23428,SMART_domains:SM00427,Superfamily_domains:SSF47113	histone cluster 1, H2bf				ENSP00000353074		1-Jan									COSM3410848	1-Jan	.		ENST00000359985	Transcript			defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	ENSG00000197846	g.chr6:26199947G>A	4752			MODERATE								--	--	1																																		HIST1H3D_uc003ngv.2_5'Flank|HIST1H2AD_uc003ngw.2_5'Flank	1	1		benign(0.264)	p.G54D	NM_003522	NP_003513		deleterious_low_confidence(0)	1	H2B1C_HUMAN	HIST1H2BF	HGNC	P62807	H2B1C_HUMAN			B2R4S9_HUMAN		1	161	+		all_hematologic(11;0.196)	UPI0000000C24	54					SNV	HIST1H2BF,missense_variant,p.Gly54Asp,ENST00000359985,NM_003522.3;HIST1H4E,upstream_gene_variant,,ENST00000360441,NM_003545.3;HIST1H3D,upstream_gene_variant,,ENST00000377831,NM_003530.4;HIST1H3D,upstream_gene_variant,,ENST00000356476,;HIST1H2AD,upstream_gene_variant,,ENST00000341023,NM_021065.3;RP1-34B20.4,upstream_gene_variant,,ENST00000405418,;HIST1H1PS1,downstream_gene_variant,,ENST00000404269,;	uc003ngx.2	c.161G>A	200/1195	1	1			c.161G>A						6	SNP	c.(160-162)GGC>GAC	53	53				0	Broad	histone cluster 1, H2bf			26199947		0.567	ENSG00000197846	7015	g.chr6:26199947G>A	defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding							-94.377834	KEEP	1	6	-1	194	237	1	6	-1	9.235078	194	237	0.015424	1	0	0	0	0	1	0	0	0	--	--		0	A			HIST1H3D_uc003ngv.2_5'Flank|HIST1H2AD_uc003ngw.2_5'Flank	7	GBM-02-2485-TP	p.G54D	G	CCCGACACCGGCATCTCATCC	NM_003522	NP_003513	26199947	P62807	H2B1C_HUMAN	0			1	161	+	A	A		all_hematologic(11;0.196)	Missense_Mutation	54						
HIST1H2BL	8340	broad.mit.edu	GRCh37	6	27775524	27775524	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377401.2:c.161G>A	p.Gly54Asp	p.G54D	ENST00000377401	NM_003519.3	54	gGc/gAc	0			1			T	G/D	uc003njl.2	protein_coding	YES	CCDS4625.1			161/381										0	c.(160-162)GGC>GAC			hmmpanther:PTHR23428,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00427,Superfamily_domains:SSF47113,Prints_domain:PR00621	histone cluster 1, H2bl				ENSP00000366618		1-Jan									COSM1496321	1-Jan	.		ENST00000377401	Transcript			nucleosome assembly	nucleosome|nucleus	DNA binding	ENSG00000185130	g.chr6:27775524C>T	4748			MODERATE		4.23	high	getma.org/?cm=msa&ty=f&p=H2B1L_HUMAN&rb=32&re=102&var=G54D	getma.org/pdb.php?prot=H2B1L_HUMAN&from=32&to=102&var=G54D	getma.org/?cm=var&var=hg19,6,27775524,C,T&fts=all	G54D	--	--	1																																		HIST1H3H_uc003njm.2_5'Flank	1	1		benign(0.081)	p.G54D	NM_003519	NP_003510		deleterious_low_confidence(0)	1	H2B1L_HUMAN	HIST1H2BL	HGNC	Q99880	H2B1L_HUMAN					1	186	-			UPI0000001BD6	54					SNV	HIST1H2BL,missense_variant,p.Gly54Asp,ENST00000377401,NM_003519.3;HIST1H2AI,upstream_gene_variant,,ENST00000358739,NM_003509.2;HIST1H3H,upstream_gene_variant,,ENST00000369163,NM_003536.2;HIST1H4PS1,downstream_gene_variant,,ENST00000406085,;	uc003njl.2	c.161G>A	186/453	2	2			c.161G>A						6	SNP	c.(160-162)GGC>GAC	25	25				0	Broad	histone cluster 1, H2bl			27775524		0.582	ENSG00000185130	7021	g.chr6:27775524C>T	nucleosome assembly	nucleosome|nucleus	DNA binding							-88.33274	KEEP	3	4	-1	223	190	3	4	-1	8.508779	223	190	0.016393	1	0	0	0	0	1	0	0	0	--	--		0	T			HIST1H3H_uc003njm.2_5'Flank	12	GBM-06-0125-TP	p.G54D	C	AGAAGAGATGCCGGTGTCGGG	NM_003519	NP_003510	27775524	Q99880	H2B1L_HUMAN	0			1	186	-	T	T			Missense_Mutation	54						
HIST1H3F	0	broad.mit.edu	GRCh37	6	26250643	26250643	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01	TCGA-19-2629-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000446824.2:c.191G>A	p.Arg64His	p.R64H	ENST00000446824	NM_021018.2	64	cGc/cAc	0			1			T	R/H	uc003nhg.1	protein_coding	YES	CCDS4600.1			191/411										0	c.(190-192)CGC>CAC			Gene3D:1.10.20.10,Pfam_domain:PF00125,Prints_domain:PR00622,hmmpanther:PTHR11426,SMART_domains:SM00428,Superfamily_domains:SSF47113	histone cluster 1, H3f				ENSP00000444823		1-Jan									COSM3410849	1-Jan	.		ENST00000446824	Transcript			blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	ENSG00000256316	g.chr6:26250643C>T	4773			MODERATE								--	--	1																																OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	HIST1H2BH_uc003nhh.2_5'Flank	1	1		possibly_damaging(0.464)	p.R64H	NM_021018	NP_066298		deleterious_low_confidence(0.05)	1	H31_HUMAN	HIST1H3F	HGNC	P68431	H31_HUMAN					1	193	-			UPI00000003C7	64					SNV	HIST1H3F,missense_variant,p.Arg64His,ENST00000446824,NM_021018.2;HIST1H2BH,upstream_gene_variant,,ENST00000356350,NM_003524.2;HIST1H4G,upstream_gene_variant,,ENST00000244537,NM_003547.2;	uc003nhg.1	c.191G>A	193/466	2	2			c.191G>A						6	SNP	c.(190-192)CGC>CAC	21	21				0	Broad	histone cluster 1, H3f			26250643		0.612	ENSG00000256316	7030	g.chr6:26250643C>T	blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding							93.223361	KEEP	26	23	-1	114	75	26	23	-1	105.461831	114	75	0.229508	1	0	0	0	0	1	0	0	0	--	--		0	T	OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	HIST1H2BH_uc003nhh.2_5'Flank	166	GBM-19-2629-TP	p.R64H	C	TGGTAGCTTGCGAATCAGTAG	NM_021018	NP_066298	26250643	P68431	H31_HUMAN	0			1	193	-	T	T			Missense_Mutation	64						
HIST1H3J	8356	broad.mit.edu	GRCh37	6	27858448	27858451	+	frameshift_variant	Frame_Shift_Del	DEL	GCGG	GCGG	-			TCGA-06-0875-01	TCGA-06-0875-01	GCGG	GCGG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359303.2:c.120_123del	p.Arg41ThrfsTer49	p.R41Tfs*49	ENST00000359303	NM_003535.2	40	caCCGC/ca	0			1			-	HR/X	uc003nka.2	protein_coding	YES	CCDS4638.1			120-123/411									ovary(1)	1	c.(118-123)CACCGCfs			Gene3D:1.10.20.10,Prints_domain:PR00622,hmmpanther:PTHR11426,SMART_domains:SM00428,Superfamily_domains:SSF47113	histone cluster 1, H3j				ENSP00000352252		1-Jan										1-Jan	.		ENST00000359303	Transcript			blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	ENSG00000197153	g.chr6:27858448_27858451delGCGG	4774			HIGH								--	--	1																																		HIST1H2BO_uc003nkc.1_5'Flank		1			p.H40fs	NM_003535	NP_003526				H31_HUMAN	HIST1H3J	HGNC	P68431	H31_HUMAN					1	120_123	-			UPI00000003C7	40_41					deletion	HIST1H3J,frameshift_variant,p.Arg41ThrfsTer49,ENST00000359303,NM_003535.2;HIST1H2AM,downstream_gene_variant,,ENST00000359611,NM_003514.2;HIST1H2BO,upstream_gene_variant,,ENST00000303806,NM_003527.4;HIST1H3J,non_coding_transcript_exon_variant,,ENST00000479986,;	uc003nka.2	c.120_123delCCGC	120-123/478	5	5			c.120_123delCCGC						6	DEL	c.(118-123)CACCGCfs	64	64			ovary(1)	1	Broad	histone cluster 1, H3j			27858451		0.632	ENSG00000197153	7034	g.chr6:27858448_27858451delGCGG	blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding																				0.15	1	1	0	1	0	0	0	0	0	--	--		0	-			HIST1H2BO_uc003nkc.1_5'Flank	71	GBM-06-0875-TP	p.H40fs	GCGG	CTGGCCTGTAGCGGTGGGGCTTCT	NM_003535	NP_003526	27858448	P68431	H31_HUMAN	0			1	120_123	-	-	-			Frame_Shift_Del	40_41						
HIST2H3D	0	broad.mit.edu	GRCh37	1	149785226	149785226	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-4928-01	TCGA-76-4928-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331491.1:c.11C>G	p.Thr4Ser	p.T4S	ENST00000331491	NM_001123375.2	4	aCt/aGt	0			1			C	T/S	uc010pbl.1	protein_coding	YES	CCDS41388.1			11/411										0	c.(10-12)ACT>AGT			hmmpanther:PTHR11426,Gene3D:1.10.20.10,Superfamily_domains:SSF47113,Prints_domain:PR00622	histone cluster 2, H3d				ENSP00000333277		1-Jan									COSM3399678	1-Jan	.		ENST00000331491	Transcript			blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding	ENSG00000183598	g.chr1:149785226G>C	25311			MODERATE								--	--	1																																		HIST2H2BF_uc010pbj.1_5'Flank|HIST2H2BF_uc010pbk.1_5'Flank|HIST2H2BF_uc001esr.2_5'Flank	1	1		benign(0)	p.T4S	NM_001123375	NP_001116847		deleterious_low_confidence(0)	1	H32_HUMAN	HIST2H3D	HGNC	Q71DI3	H32_HUMAN					1	11	-			UPI0000000586	4					SNV	HIST2H3D,missense_variant,p.Thr4Ser,ENST00000331491,NM_001123375.2;HIST2H2BF,upstream_gene_variant,,ENST00000427880,;HIST2H2BF,upstream_gene_variant,,ENST00000545683,NM_001161334.1;HIST2H2BF,upstream_gene_variant,,ENST00000369167,NM_001024599.4;RP11-196G18.21,upstream_gene_variant,,ENST00000420462,;HIST2H2BF,upstream_gene_variant,,ENST00000469483,;	uc010pbl.1	c.11C>G	11/411	3	3			c.11C>G						1	SNP	c.(10-12)ACT>AGT	64	64				0	Broad	histone cluster 2, H3d			149785226		0.567	ENSG00000183598	7051	g.chr1:149785226G>C	blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding							39.578218	KEEP	7	11	-1	50	46	7	11	-1	46.682601	50	46	0.189873	1	0	0	0	0	1	0	0	0	--	--		0	C			HIST2H2BF_uc010pbj.1_5'Flank|HIST2H2BF_uc010pbk.1_5'Flank|HIST2H2BF_uc001esr.2_5'Flank	268	GBM-76-4928-TP	p.T4S	G	AGTCTGCTTAGTACGGGCCAT	NM_001123375	NP_001116847	149785226	Q71DI3	H32_HUMAN	0			1	11	-	C	C			Missense_Mutation	4						
HIST3H3	8290	broad.mit.edu	GRCh37	1	228612678	228612678	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01	TCGA-06-2563-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366696.1:c.349C>T	p.Arg117Trp	p.R117W	ENST00000366696	NM_003493.2	117	Cgg/Tgg	0	A:0		1			A	R/W	uc001hsx.1	protein_coding	YES	CCDS1572.1			349/411										0	c.(349-351)CGG>TGG			hmmpanther:PTHR11426,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00428,Superfamily_domains:SSF47113,Prints_domain:PR00622	histone cluster 3, H3			A:0.0002	ENSP00000355657		1-Jan	1.65E-05					3.00E-05			rs368511457,COSM1997173	1-Jan	.		ENST00000366696	Transcript			nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	ENSG00000168148	g.chr1:228612678G>A	4778			MODERATE		5.07	high	getma.org/?cm=msa&ty=f&p=H31T_HUMAN&rb=58&re=132&var=R117W	getma.org/pdb.php?prot=H31T_HUMAN&from=58&to=132&var=R117W	getma.org/?cm=var&var=hg19,1,228612678,G,A&fts=all	R117W	--	--	1																																			0,1	1		probably_damaging(0.958)	p.R117W	NM_003493	NP_003484		deleterious_low_confidence(0)	0,1	H31T_HUMAN	HIST3H3	HGNC	Q16695	H31T_HUMAN					1	349	-		Prostate(94;0.0724)	UPI000000D7E2	117					SNV	HIST3H3,missense_variant,p.Arg117Trp,ENST00000366696,NM_003493.2;	uc001hsx.1	c.349C>T	349/481	2	2			c.349C>T						1	SNP	c.(349-351)CGG>TGG	30	30				0	Broad	histone cluster 3, H3			228612678		0.627	ENSG00000168148	7054	g.chr1:228612678G>A	nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding							113.83458	KEEP	21	20	-1	34	25	21	20	-1	114.586865	34	25	0.404255	1	0	0	0	0	1	0	0	0	--	--		0	A				86	GBM-06-2563-TP	p.R117W	G	ATGGTGACCCGTTTGGCATGG	NM_003493	NP_003484	228612678	Q16695	H31T_HUMAN	0			1	349	-	A	A		Prostate(94;0.0724)	Missense_Mutation	117						
HIST4H4	0	broad.mit.edu	GRCh37	12	14923761	14923761	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-19-2629-01	TCGA-19-2629-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000539745.1:c.258T>C	p.Asp86=	p.D86=	ENST00000539745	NM_175054.2	86	gaT/gaC	0			1			G	D	uc001rcf.3	protein_coding	YES	CCDS8665.1			258/312									ovary(2)	2	c.(256-258)GAT>GAC			Gene3D:1.10.20.10,Pfam_domain:PF00125,Prints_domain:PR00623,hmmpanther:PTHR10484,SMART_domains:SM00417,SMART_domains:SM00803,Superfamily_domains:SSF47113	histone cluster 4, H4				ENSP00000443017		1-Jan	8.24E-06	9.64E-05							rs759672780,COSM3398569	1-Jan	.		ENST00000539745	Transcript			CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	ENSG00000197837	g.chr12:14923761A>G	20510			LOW								--	--	1																																OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	HIST4H4_uc001rce.2_RNA	0,1	1			p.D86D	NM_175054	NP_778224			0,1	H4_HUMAN	HIST4H4	HGNC	P62805	H4_HUMAN			Q6B823_HUMAN,B2R4R0_HUMAN		1	305	-			UPI000000003C	86					SNV	HIST4H4,synonymous_variant,p.=,ENST00000539745,NM_175054.2;H2AFJ,upstream_gene_variant,,ENST00000544848,NM_177925.2;RP11-174G6.5,upstream_gene_variant,,ENST00000562691,;HIST4H4,upstream_gene_variant,,ENST00000541592,;HIST4H4,upstream_gene_variant,,ENST00000540565,;HIST4H4,upstream_gene_variant,,ENST00000537853,;HIST4H4,upstream_gene_variant,,ENST00000537096,;HIST4H4,synonymous_variant,p.=,ENST00000358064,NM_175054.2;H2AFJ,upstream_gene_variant,,ENST00000501744,;H2AFJ,upstream_gene_variant,,ENST00000389078,;	uc001rcf.3	c.258T>C	305/577	3	3			c.258T>C						12	SNP	c.(256-258)GAT>GAC	3	3			ovary(2)	2	Broad	histone cluster 4, H4			14923761		0.587	ENSG00000197837	7055	g.chr12:14923761A>G	CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding							20.114573	KEEP	8	10	-1	55	75	8	10	-1	38.432595	55	75	0.122137	1	0	0	0	0	0	0	1	0	--	--		0	G	OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	HIST4H4_uc001rce.2_RNA	166	GBM-19-2629-TP	p.D86D	A	CGTACACCACATCCATGGCCG	NM_175054	NP_778224	14923761	P62805	H4_HUMAN	0			1	305	-	G	G			Silent	86						
HIVEP1	0	broad.mit.edu	GRCh37	6	12164550	12164550	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-19-1390-01	TCGA-19-1390-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379388.2:c.8013T>C	p.Val2671=	p.V2671=	ENST00000379388	NM_002114.2	2671	gtT/gtC	0			1			C	V	uc003nac.2	protein_coding	YES	CCDS43426.1			8013/8157									ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	c.(8011-8013)GTT>GTC			hmmpanther:PTHR23233:SF48,hmmpanther:PTHR23233	human immunodeficiency virus type I enhancer				ENSP00000368698		9-Sep									COSM3410561	9-Sep	.		ENST00000379388	Transcript			transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	ENSG00000095951	g.chr6:12164550T>C	4920			LOW								--	--	1																																		HIVEP1_uc011diq.1_RNA	1	1			p.V2671V	NM_002114	NP_002105			1	ZEP1_HUMAN	HIVEP1	HGNC	P15822	ZEP1_HUMAN			C9JZF8_HUMAN,C9JAW2_HUMAN,C9J2N3_HUMAN		9	8192	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	UPI000020D52B	2671					SNV	HIVEP1,synonymous_variant,p.=,ENST00000379388,NM_002114.2;HIVEP1,synonymous_variant,p.=,ENST00000541134,;HIVEP1,downstream_gene_variant,,ENST00000442081,;HIVEP1,3_prime_UTR_variant,,ENST00000399469,;	uc003nac.2	c.8013T>C	8345/9027	4	4			c.8013T>C						6	SNP	c.(8011-8013)GTT>GTC	41	41			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Broad	human immunodeficiency virus type I enhancer			12164550		0.577	ENSG00000095951	7056	g.chr6:12164550T>C	transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding							42.070559	KEEP	6	9	-1	5	14	6	9	-1	42.186744	5	14	0.433333	1	0	0	0	0	0	0	1	0	--	--		0	C			HIVEP1_uc011diq.1_RNA	159	GBM-19-1390-TP	p.V2671V	T	ATTCTGAAGTTTTTACAAAGC	NM_002114	NP_002105	12164550	P15822	ZEP1_HUMAN	0			9	8192	+	C	C	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	Silent	2671						
HIVEP1	0	broad.mit.edu	GRCh37	6	12121493	12121493	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01	TCGA-32-2494-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379388.2:c.1465G>A	p.Val489Ile	p.V489I	ENST00000379388	NM_002114.2	489	Gta/Ata	0			1			A	V/I	uc003nac.2	protein_coding	YES	CCDS43426.1			1465/8157									ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	c.(1465-1467)GTA>ATA			Low_complexity_(Seg):seg,hmmpanther:PTHR23233:SF48,hmmpanther:PTHR23233	human immunodeficiency virus type I enhancer				ENSP00000368698		9-Apr	2.48E-05					3.01E-05		6.07E-05	rs199639832,COSM210979	9-Apr	.		ENST00000379388	Transcript			transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	ENSG00000095951	g.chr6:12121493G>A	4920			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=ZEP1_HUMAN&rb=446&re=512&var=V489I	NA	getma.org/?cm=var&var=hg19,6,12121493,G,A&fts=all	V489I	--	--	1																																		HIVEP1_uc011diq.1_RNA	0,1	1		benign(0.013)	p.V489I	NM_002114	NP_002105		tolerated(0.1)	0,1	ZEP1_HUMAN	HIVEP1	HGNC	P15822	ZEP1_HUMAN			C9JZF8_HUMAN,C9JAW2_HUMAN,C9J2N3_HUMAN		4	1644	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	UPI000020D52B	489					SNV	HIVEP1,missense_variant,p.Val489Ile,ENST00000379388,NM_002114.2;HIVEP1,intron_variant,,ENST00000442081,;HIVEP1,upstream_gene_variant,,ENST00000541134,;HIVEP1,downstream_gene_variant,,ENST00000487103,;HIVEP1,downstream_gene_variant,,ENST00000491710,;HIVEP1,downstream_gene_variant,,ENST00000478545,;HIVEP1,upstream_gene_variant,,ENST00000399469,;	uc003nac.2	c.1465G>A	1797/9027	2	2			c.1465G>A						6	SNP	c.(1465-1467)GTA>ATA	28	28			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Broad	human immunodeficiency virus type I enhancer			12121493		0.527	ENSG00000095951	7056	g.chr6:12121493G>A	transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding							93.482673	KEEP	11	28	-1	40	47	11	28	-1	96.851943	40	47	0.315315	1	0	0	0	0	1	0	0	0	--	--		0	A			HIVEP1_uc011diq.1_RNA	236	GBM-32-2494-TP	p.V489I	G	TCATTCAGACGTAGAAGACAG	NM_002114	NP_002105	12121493	P15822	ZEP1_HUMAN	0			4	1644	+	A	A	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	Missense_Mutation	489						
HIVEP2	3097	broad.mit.edu	GRCh37	6	143074691	143074691	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0241-01	TCGA-06-0241-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367603.2:c.6894T>C	p.Thr2298=	p.T2298=	ENST00000367603	NM_006734.3	2298	acT/acC	0			1			G	T	uc003qjd.2	protein_coding		CCDS43510.1			6894/7341									ovary(3)|skin(2)|central_nervous_system(1)	6	c.(6892-6894)ACT>ACC			Low_complexity_(Seg):seg,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF53	human immunodeficiency virus type I enhancer				ENSP00000012134		8-Aug									COSM2151174	8-Aug	.		ENST00000012134	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000010818	g.chr6:143074691A>G	4921			LOW								--	--	1																																			1				p.T2298T	NM_006734	NP_006725			1	ZEP2_HUMAN	HIVEP2	HGNC	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	B4DKE9_HUMAN		10	7637	-			UPI00004708DD	2298					SNV	HIVEP2,synonymous_variant,p.=,ENST00000367603,NM_006734.3;HIVEP2,synonymous_variant,p.=,ENST00000367604,;HIVEP2,synonymous_variant,p.=,ENST00000012134,;RP1-67K17.3,non_coding_transcript_exon_variant,,ENST00000437067,;	uc003qjd.2	c.6894T>C	7439/9524	3	3			c.6894T>C						6	SNP	c.(6892-6894)ACT>ACC	16	16			ovary(3)|skin(2)|central_nervous_system(1)	6	Broad	human immunodeficiency virus type I enhancer			143074691		0.527	ENSG00000010818	7057	g.chr6:143074691A>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	Esophageal Squamous(107;843 1510 13293 16805 42198)			Esophageal Squamous(107;843 1510 13293 16805 42198)			174.479618	KEEP	34	28	-1	51	54	34	28	-1	176.218371	51	54	0.379562	1	0	0	0	0	0	0	1	0	--	--		0	G				57	GBM-06-0241-TP	p.T2298T	A	GAGAGGAGGGAGTGCTAGGTG	NM_006734	NP_006725	143074691	P31629	ZEP2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	10	7637	-	G	G			Silent	2298						
HIVEP3	0	broad.mit.edu	GRCh37	1	42048030	42048030	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000247584.5:c.2439G>A	p.Glu813=	p.E813=	ENST00000247584		813	gaG/gaA	0			1			T	E	uc001cgz.3	protein_coding		CCDS463.1			2439/7221									ovary(4)|large_intestine(1)|central_nervous_system(1)	6	c.(2437-2439)GAG>GAA			hmmpanther:PTHR23233:SF50,hmmpanther:PTHR23233	human immunodeficiency virus type I enhancer				ENSP00000247584		8-Mar									COSM2169667	8-Mar	.		ENST00000247584	Transcript			positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	ENSG00000127124	g.chr1:42048030C>T	13561			LOW								--	--	1																																		HIVEP3_uc001cha.3_Silent_p.E813E|HIVEP3_uc001cgy.2_RNA	1				p.E813E	NM_024503	NP_078779			1	ZEP3_HUMAN	HIVEP3	HGNC	Q5T1R4	ZEP3_HUMAN					4	3652	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	UPI000013CC24	813			Ser-rich.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		SNV	HIVEP3,synonymous_variant,p.=,ENST00000372584,NM_001127714.2;HIVEP3,synonymous_variant,p.=,ENST00000372583,NM_024503.4;HIVEP3,synonymous_variant,p.=,ENST00000247584,;HIVEP3,synonymous_variant,p.=,ENST00000429157,;HIVEP3,upstream_gene_variant,,ENST00000460604,;	uc001cgz.3	c.2439G>A	3245/8465	1	1			c.2439G>A						1	SNP	c.(2437-2439)GAG>GAA	7	7			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Broad	human immunodeficiency virus type I enhancer			42048030		0.557	ENSG00000127124	7058	g.chr1:42048030C>T	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding							98.888007	KEEP	20	23	-1	16	34	20	23	-1	98.967336	16	34	0.463768	1	0	0	0	0	0	0	1	0	--	--		0	T			HIVEP3_uc001cha.3_Silent_p.E813E|HIVEP3_uc001cgy.2_RNA	177	GBM-19-5959-TP	p.E813E	C	CACTCGGCTGCTCGAGAGAAT	NM_024503	NP_078779	42048030	Q5T1R4	ZEP3_HUMAN	0			4	3652	-	T	T	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	Silent	813			Ser-rich.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).			
HK2	0	broad.mit.edu	GRCh37	2	75081444	75081444	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01	TCGA-14-2554-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290573.2:c.88C>T	p.Arg30Cys	p.R30C	ENST00000290573	NM_000189.4	30	Cgc/Tgc	0			1			T	R/C	uc002snd.2	protein_coding	YES	CCDS1956.1			88/2754									ovary(1)|lung(1)	2	c.(88-90)CGC>TGC			Pfam_domain:PF00349,Superfamily_domains:SSF53067	hexokinase 2				ENSP00000290573		18-Feb	8.24E-06					1.50E-05			rs567201785,COSM1023101	18-Feb	.		ENST00000290573	Transcript			apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	ENSG00000159399	g.chr2:75081444C>T	4923			MODERATE		2.505	medium	getma.org/?cm=msa&ty=f&p=HXK2_HUMAN&rb=16&re=221&var=R30C	getma.org/pdb.php?prot=HXK2_HUMAN&from=16&to=221&var=R30C	getma.org/?cm=var&var=hg19,2,75081444,C,T&fts=all	R30C	--	--	1																																			0,1	1		possibly_damaging(0.815)	p.R30C	NM_000189	NP_000180		tolerated(0.06)	0,1	HXK2_HUMAN	HK2	HGNC	P52789	HXK2_HUMAN			Q7Z7Q6_HUMAN,Q53SG7_HUMAN,Q53QX9_HUMAN,Q09LL6_HUMAN,E9PB90_HUMAN		2	2014	+			UPI00000706E4	30			Regulatory.	ATP 1 (By similarity).	SNV	HK2,missense_variant,p.Arg30Cys,ENST00000290573,NM_000189.4;HK2,missense_variant,p.Arg2Cys,ENST00000409174,;HK2,upstream_gene_variant,,ENST00000472302,;	uc002snd.2	c.88C>T	688/5772	1	1			c.88C>T						2	SNP	c.(88-90)CGC>TGC	2	2			ovary(1)|lung(1)	2	Broad	hexokinase 2			75081444		0.403	ENSG00000159399	7061	g.chr2:75081444C>T	apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity							-18.480871	KEEP	36	21	-1	346	321	36	21	-1	98.588666	346	321	0.072347	1	0	0	0	0	1	0	0	0	--	--		0	T				150	GBM-14-2554-TP	p.R30C	C	CTACCACATGCGCCTCTCTGA	NM_000189	NP_000180	75081444	P52789	HXK2_HUMAN	0			2	2014	+	T	T			Missense_Mutation	30			Regulatory.	ATP 1 (By similarity).		
HK2	0	broad.mit.edu	GRCh37	2	75081480	75081480	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01	TCGA-27-2523-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290573.2:c.124C>T	p.Arg42Trp	p.R42W	ENST00000290573	NM_000189.4	42	Cgg/Tgg	0	T:0.0007		1			T	R/W	uc002snd.2	protein_coding	YES	CCDS1956.1			124/2754									ovary(1)|lung(1)	2	c.(124-126)CGG>TGG			Pfam_domain:PF00349,Superfamily_domains:SSF53067	hexokinase 2			T:0	ENSP00000290573		18-Feb	3.29E-05	0.000288	8.64E-05						rs372666431,COSM3407996	18-Feb	.		ENST00000290573	Transcript			apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	ENSG00000159399	g.chr2:75081480C>T	4923			MODERATE		3.55	high	getma.org/?cm=msa&ty=f&p=HXK2_HUMAN&rb=16&re=221&var=R42W	getma.org/pdb.php?prot=HXK2_HUMAN&from=16&to=221&var=R42W	getma.org/?cm=var&var=hg19,2,75081480,C,T&fts=all	R42W	--	--	1																																			0,1	1		probably_damaging(0.999)	p.R42W	NM_000189	NP_000180		deleterious(0)	0,1	HXK2_HUMAN	HK2	HGNC	P52789	HXK2_HUMAN			Q7Z7Q6_HUMAN,Q53SG7_HUMAN,Q53QX9_HUMAN,Q09LL6_HUMAN,E9PB90_HUMAN		2	2050	+			UPI00000706E4	42			Regulatory.		SNV	HK2,missense_variant,p.Arg42Trp,ENST00000290573,NM_000189.4;HK2,missense_variant,p.Arg14Trp,ENST00000409174,;HK2,non_coding_transcript_exon_variant,,ENST00000472302,;	uc002snd.2	c.124C>T	724/5772	1	1			c.124C>T						2	SNP	c.(124-126)CGG>TGG	9	9			ovary(1)|lung(1)	2	Broad	hexokinase 2			75081480		0.512	ENSG00000159399	7061	g.chr2:75081480C>T	apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity							-125.416747	KEEP	2	5	-1	257	264	2	5	-1	7.374736	257	264	0.012295	1	0	0	0	0	1	0	0	0	--	--		0	T				201	GBM-27-2523-TP	p.R42W	C	GATCTCTAAGCGGTTCCGCAA	NM_000189	NP_000180	75081480	P52789	HXK2_HUMAN	0			2	2050	+	T	T			Missense_Mutation	42			Regulatory.			
HK3	0	broad.mit.edu	GRCh37	5	176314737	176314737	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0787-01	TCGA-14-0787-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000292432.5:c.1315G>A	p.Val439Ile	p.V439I	ENST00000292432	NM_002115.2	439	Gtc/Atc	0	T:0		1			T	V/I	uc003mfa.2	protein_coding	YES	CCDS4407.1			1315/2772									ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	c.(1315-1317)GTC>ATC			hmmpanther:PTHR19443:SF1,hmmpanther:PTHR19443,Pfam_domain:PF03727,Gene3D:3.40.367.20,Superfamily_domains:SSF53067	hexokinase 3			T:0.0003	ENSP00000292432		19-Nov	0.000354		8.73E-05	0.000117		0.000545		0.000281	rs367991681,COSM1209759,COSM1209760	19-Nov	common_variant		ENST00000292432	Transcript			glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	ENSG00000160883	g.chr5:176314737C>T	4925			MODERATE		-0.85	neutral	getma.org/?cm=msa&ty=f&p=HXK3_HUMAN&rb=236&re=475&var=V439I	getma.org/pdb.php?prot=HXK3_HUMAN&from=236&to=475&var=V439I	getma.org/?cm=var&var=hg19,5,176314737,C,T&fts=all	V439I	--	--	1																																		HK3_uc003mez.2_5'UTR	0,1,1	1		benign(0.002)	p.V439I	NM_002115	NP_002106		tolerated(0.56)	0,1,1	HXK3_HUMAN	HK3	HGNC	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)				11	1407	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	UPI000006E237	439	V -> I (in Ref. 4; AAC50422).		Regulatory.		SNV	HK3,missense_variant,p.Val439Ile,ENST00000292432,NM_002115.2;HK3,upstream_gene_variant,,ENST00000514058,;HK3,non_coding_transcript_exon_variant,,ENST00000506834,;HK3,intron_variant,,ENST00000509717,;HK3,downstream_gene_variant,,ENST00000504910,;	uc003mfa.2	c.1315G>A	1407/3066	2	2			c.1315G>A						5	SNP	c.(1315-1317)GTC>ATC	17	17			ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	Broad	hexokinase 3			176314737		0.622	ENSG00000160883	7062	g.chr5:176314737C>T	glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity							79.921025	KEEP	14	23	-1	30	28	14	23	-1	81.541873	30	28	0.346154	1	0	0	0	0	1	0	0	0	--	--		0	T			HK3_uc003mez.2_5'UTR	135	GBM-14-0787-TP	p.V439I	C	CCCTGCAGGACGCTGCAGAAC	NM_002115	NP_002106	176314737	P52790	HXK3_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	1407	-	T	T	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Missense_Mutation	439	V -> I (in Ref. 4; AAC50422).		Regulatory.			
HKDC1	80201	broad.mit.edu	GRCh37	10	71025477	71025477	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0221-01	TCGA-06-0221-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354624.5:c.2509C>T	p.Leu837=	p.L837=	ENST00000354624	NM_025130.3	837	Ctg/Ttg	0			1			T	L	uc001jpf.3	protein_coding	YES	CCDS7288.1			2509/2754									ovary(4)|skin(1)	5	c.(2509-2511)CTG>TTG			Prints_domain:PR00475,Superfamily_domains:SSF53067,Gene3D:3.40.367.20,Pfam_domain:PF03727,hmmpanther:PTHR19443,hmmpanther:PTHR19443:SF12	hexokinase domain containing 1				ENSP00000346643		17/18	0.000206	0.000103	8.72E-05		0.000791	0.000155	0.00117		rs772861518,COSM3747859	17/18	common_variant		ENST00000354624	Transcript			glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	ENSG00000156510	g.chr10:71025477C>T	23302			LOW								--	--	1																																		HKDC1_uc010qje.1_Silent_p.L700L|HKDC1_uc009xqb.2_RNA	0,1	1			p.L837L	NM_025130	NP_079406			0,1	HKDC1_HUMAN	HKDC1	HGNC	Q2TB90	HKDC1_HUMAN					17	2642	+			UPI00003666D2	837					SNV	HKDC1,synonymous_variant,p.=,ENST00000354624,NM_025130.3;HK1,upstream_gene_variant,,ENST00000448642,;HK1,upstream_gene_variant,,ENST00000360289,NM_033498.2,NM_033500.2,NM_033497.2;HKDC1,downstream_gene_variant,,ENST00000395086,;HK1,upstream_gene_variant,,ENST00000450646,;RP11-227H15.5,non_coding_transcript_exon_variant,,ENST00000413220,;HK1,upstream_gene_variant,,ENST00000483077,;HK1,upstream_gene_variant,,ENST00000479594,;HK1,upstream_gene_variant,,ENST00000476368,;HKDC1,downstream_gene_variant,,ENST00000470920,;HK1,upstream_gene_variant,,ENST00000480047,;HK1,upstream_gene_variant,,ENST00000464803,;	uc001jpf.3	c.2509C>T	2642/3689	2	2			c.2509C>T						10	SNP	c.(2509-2511)CTG>TTG	33	33			ovary(4)|skin(1)	5	Broad	hexokinase domain containing 1			71025477		0.642	ENSG00000156510	7063	g.chr10:71025477C>T	glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity							2.727097	KEEP	7	5	-1	26	27	7	5	-1	6.596308	26	27	0.166667	1	0	0	0	0	0	0	1	0	--	--		0	T			HKDC1_uc010qje.1_Silent_p.L700L|HKDC1_uc009xqb.2_RNA	53	GBM-06-0221-TP	p.L837L	C	CGGTGCTGGCCTGGCCGCTAT	NM_025130	NP_079406	71025477	Q2TB90	HKDC1_HUMAN	0			17	2642	+	T	T			Silent	837						
HKDC1	0	broad.mit.edu	GRCh37	10	71025477	71025477	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-3915-01	TCGA-41-3915-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354624.5:c.2509C>T	p.Leu837=	p.L837=	ENST00000354624	NM_025130.3	837	Ctg/Ttg	0			1			T	L	uc001jpf.3	protein_coding	YES	CCDS7288.1			2509/2754									ovary(4)|skin(1)	5	c.(2509-2511)CTG>TTG			Prints_domain:PR00475,Superfamily_domains:SSF53067,Gene3D:3.40.367.20,Pfam_domain:PF03727,hmmpanther:PTHR19443,hmmpanther:PTHR19443:SF12	hexokinase domain containing 1				ENSP00000346643		17/18	0.000206	0.000103	8.72E-05		0.000791	0.000155	0.00117		rs772861518,COSM3747859	17/18	common_variant		ENST00000354624	Transcript			glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	ENSG00000156510	g.chr10:71025477C>T	23302			LOW								--	--	1																																		HKDC1_uc010qje.1_Silent_p.L700L|HKDC1_uc009xqb.2_RNA	0,1	1			p.L837L	NM_025130	NP_079406			0,1	HKDC1_HUMAN	HKDC1	HGNC	Q2TB90	HKDC1_HUMAN					17	2642	+			UPI00003666D2	837					SNV	HKDC1,synonymous_variant,p.=,ENST00000354624,NM_025130.3;HK1,upstream_gene_variant,,ENST00000448642,;HK1,upstream_gene_variant,,ENST00000360289,NM_033498.2,NM_033500.2,NM_033497.2;HKDC1,downstream_gene_variant,,ENST00000395086,;HK1,upstream_gene_variant,,ENST00000450646,;RP11-227H15.5,non_coding_transcript_exon_variant,,ENST00000413220,;HK1,upstream_gene_variant,,ENST00000483077,;HK1,upstream_gene_variant,,ENST00000479594,;HK1,upstream_gene_variant,,ENST00000476368,;HKDC1,downstream_gene_variant,,ENST00000470920,;HK1,upstream_gene_variant,,ENST00000480047,;HK1,upstream_gene_variant,,ENST00000464803,;	uc001jpf.3	c.2509C>T	2642/3689	2	2			c.2509C>T						10	SNP	c.(2509-2511)CTG>TTG	33	33			ovary(4)|skin(1)	5	Broad	hexokinase domain containing 1			71025477		0.642	ENSG00000156510	7063	g.chr10:71025477C>T	glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity							3.134299	KEEP	11	8	-1	32	26	11	8	-1	7.193452	32	26	0.215686	1	0	0	0	0	0	0	1	0	--	--		0	T			HKDC1_uc010qje.1_Silent_p.L700L|HKDC1_uc009xqb.2_RNA	256	GBM-41-3915-TP	p.L837L	C	CGGTGCTGGCCTGGCCGCTAT	NM_025130	NP_079406	71025477	Q2TB90	HKDC1_HUMAN	0			17	2642	+	T	T			Silent	837						
HLA-B	3106	broad.mit.edu	GRCh37	6	31322411	31322411	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T			TCGA-06-0169-01	TCGA-06-0169-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000412585.2:c.1044G>A		p.X348_splice	ENST00000412585	NM_005514.6	348	gcG/gcA	0			1			T	A	uc003nth.2	protein_coding	YES	CCDS34394.1			1044/1089										0	c.(1042-1044)GCG>GCA			Pfam_domain:PF06623,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF157	major histocompatibility complex, class I, B				ENSP00000399168		8-Jun	2.47E-05					4.50E-05			rs750871285,COSM3410931	8-Jun	.	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of	ENST00000412585	Transcript	1		antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	ENSG00000234745	g.chr6:31322411C>T	4932			LOW								--	--	1																																		HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Silent_p.A227A|HLA-B_uc003nti.1_RNA	0,1	1			p.A348A	NM_005514	NP_005505			0,1	1B73_HUMAN,1B07_HUMAN,1B42_HUMAN,1B67_HUMAN,1B81_HUMAN,1B48_HUMAN	HLA-B	HGNC	P01889	1B07_HUMAN			T1R372_HUMAN,R4QQU0_HUMAN,N0A4A9_HUMAN,N0A0K3_HUMAN,M9XMA8_HUMAN,M9PAL2_HUMAN,M9P9U8_HUMAN,M9P9C4_HUMAN,M9P9A4_HUMAN,M9P990_HUMAN,M9P8G8_HUMAN,M1FXF1_HUMAN,M1FWX2_HUMAN,M1F4D0_HUMAN,E5FQ95_HUMAN,Q9UIP1_HUMAN,Q9TQC5_HUMAN,Q9TQC2_HUMAN,Q9TPU4_HUMAN,Q9GIM0_HUMAN,Q95IE1_HUMAN,Q95HL7_HUMAN,Q8SP64_HUMAN,Q8HWQ3_HUMAN,Q861E5_HUMAN,Q861D6_HUMAN,Q861D4_HUMAN,Q7YP17_HUMAN,Q7YNX2_HUMAN,Q7JGR7_HUMAN,Q710M8_HUMAN,Q710M7_HUMAN,Q70HJ6_HUMAN,Q709M5_HUMAN,Q6ZXT6_HUMAN,Q5QR88_HUMAN,Q5QR87_HUMAN,Q5QR86_HUMAN,Q5QR85_HUMAN,Q5QR84_HUMAN,Q5QR83_HUMAN,Q5QR76_HUMAN,Q5QR73_HUMAN,Q5QR69_HUMAN,Q5QR62_HUMAN,Q5QR60_HUMAN,Q5QR59_HUMAN,Q5QR58_HUMAN,Q5QR57_HUMAN,Q5QR48_HUMAN,Q5QR47_HUMAN,Q5QR46_HUMAN,Q5QR36_HUMAN,Q5QR34_HUMAN,Q5QR33_HUMAN,Q5QR31_HUMAN,Q5F311_HUMAN,Q53ZP0_HUMAN,Q29923_HUMAN,Q29843_HUMAN,Q256S0_HUMAN,O19782_HUMAN,O19746_HUMAN,O19644_HUMAN,O19638_HUMAN,O19563_HUMAN,L0RH50_HUMAN,L0BXM2_HUMAN,K9LCN4_HUMAN,K9L8E6_HUMAN,K7QT39_HUMAN,K7P5R9_HUMAN,K4JQY2_HUMAN,J9UP90_HUMAN,J9PWQ9_HUMAN,J9PW07_HUMAN,J7K017_HUMAN,J7F682_HUMAN,J7F577_HUMAN,I7A4E3_HUMAN,I6TRW4_HUMAN,I6RCX9_HUMAN,I6NXG0_HUMAN,I6NWI0_HUMAN,I6NVS4_HUMAN,I4EC43_HUMAN,I3VZ13_HUMAN,I3UI65_HUMAN,I3QHR8_HUMAN,I2B2Z4_HUMAN,I2B2W6_HUMAN,H9C5J4_HUMAN,H9BQ86_HUMAN,H9BQ83_HUMAN,H9BQ82_HUMAN,G9I2L1_HUMAN,G3D6I7_HUMAN,G1EPU3_HUMAN,G1EPN0_HUMAN,G1EPJ1_HUMAN,G1ENJ6_HUMAN,G1ENJ0_HUMAN,G1EMP0_HUMAN,G1EMK6_HUMAN,G0ZMJ0_HUMAN,G0ZMH5_HUMAN,G0Z8C9_HUMAN,G0WVB6_HUMAN,F8SKV9_HUMAN,F8RHF3_HUMAN,F6KRS1_HUMAN,F6KRR7_HUMAN,F6KRQ7_HUMAN,F4YU56_HUMAN,F4YTC4_HUMAN,F4NBP2_HUMAN,F4NBP0_HUMAN,F2X5W5_HUMAN,F2X5T3_HUMAN,F2VNN2_HUMAN,E9LY38_HUMAN,E7BYA5_HUMAN,E3SWI1_HUMAN,E3SWH9_HUMAN,E2GJN0_HUMAN,E2DH92_HUMAN,E2D5Q2_HUMAN,E2D5P9_HUMAN,E2D5N8_HUMAN,D9U3G7_HUMAN,D7NSR4_HUMAN,D5L9C9_HUMAN,D5FWA6_HUMAN,D5FI14_HUMAN,D5FHY1_HUMAN,D5FHV8_HUMAN,D5FHU6_HUMAN,D4HPL2_HUMAN,D4HPB9_HUMAN,D4HPB2_HUMAN,D4HP81_HUMAN,D3Y5Y4_HUMAN,D3U4B8_HUMAN,D2DL25_HUMAN,D2DKQ8_HUMAN,D2DKN8_HUMAN,D2DKN6_HUMAN,D2DKF7_HUMAN,D2DKF6_HUMAN,C9WEP9_HUMAN,C9WEN6_HUMAN,C9WD06_HUMAN,C9WCZ5_HUMAN,C9WCQ2_HUMAN,C9E1H2_HUMAN,C8CH80_HUMAN,C8CAX9_HUMAN,C7FDQ9_HUMAN,C6L830_HUMAN,C5JA70_HUMAN,C3VIU8_HUMAN,B9VWB1_HUMAN,B4DUK6_HUMAN,B2YG95_HUMAN,A7E1C3_HUMAN,A5PHP5_HUMAN,A2VC07_HUMAN		6	1098	-			UPI0000000B17	348			Cytoplasmic (Potential).		SNV	HLA-B,splice_region_variant,p.=,ENST00000412585,NM_005514.6;HLA-B,downstream_gene_variant,,ENST00000434333,;HLA-B,splice_region_variant,,ENST00000497377,;HLA-B,non_coding_transcript_exon_variant,,ENST00000481849,;HLA-B,downstream_gene_variant,,ENST00000474381,;HLA-B,downstream_gene_variant,,ENST00000498007,;HLA-B,downstream_gene_variant,,ENST00000463574,;XXbac-BPG248L24.12,upstream_gene_variant,,ENST00000603274,;	uc003nth.2	c.1044G>A	1073/1547	2	2			c.1044G>A						6	SNP	c.(1042-1044)GCG>GCA	17	17				0	Broad	major histocompatibility complex, class I, B			31322411	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of	0.572	ENSG00000234745	7066	g.chr6:31322411C>T	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity							52.811746	KEEP	13	10	-1	56	48	13	10	-1	59.449384	56	48	0.226804	1	0	0	0	0	0	0	1	0	--	--		0	T			HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Silent_p.A227A|HLA-B_uc003nti.1_RNA	34	GBM-06-0169-TP	p.A348A	C	ACCACTTACACGCAGCCTGAG	NM_005514	NP_005505	31322411	P01889	1B07_HUMAN	0			6	1098	-	T	T			Silent	348			Cytoplasmic (Potential).			
HLA-DMB	0	broad.mit.edu	GRCh37	6	32903319	32903319	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-5133-01	TCGA-26-5133-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000418107.2:c.733C>T	p.His245Tyr	p.H245Y	ENST00000418107	NM_002118.4	245	Cac/Tac	0			1			A	H/Y	uc003ocl.1	protein_coding	YES	CCDS4760.1			733/792										0	c.(733-735)CAC>TAC			hmmpanther:PTHR19944:SF51,hmmpanther:PTHR19944	major histocompatibility complex, class II, DM				ENSP00000398890		6-Apr									COSM2156954,COSM2156955	6-Apr	.		ENST00000418107	Transcript			antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		ENSG00000242574	g.chr6:32903319G>A	4935			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=DMB_HUMAN&rb=205&re=263&var=H245Y	NA	getma.org/?cm=var&var=hg19,6,32903319,G,A&fts=all	H245Y	--	--	1																																		HLA-DMB_uc003ocj.1_3'UTR|HLA-DMB_uc003ock.1_RNA|HLA-DMB_uc010jud.1_Missense_Mutation_p.H114Y|HLA-DMB_uc010jue.1_Intron|HLA-DMB_uc010juf.1_Intron	1,1	1		benign(0.004)	p.H245Y	NM_002118	NP_002109		tolerated(1)	1,1	DMB_HUMAN	HLA-DMB	HGNC	P28068	DMB_HUMAN			B4DVC2_HUMAN		4	966	-			UPI0000140DCC	245			Cytoplasmic (Potential).		SNV	HLA-DMB,missense_variant,p.His245Tyr,ENST00000418107,NM_002118.4;HLA-DMB,missense_variant,p.His135Tyr,ENST00000414017,;HLA-DMB,intron_variant,,ENST00000438510,;HLA-DMB,downstream_gene_variant,,ENST00000416244,;XXbac-BPG181M17.5,downstream_gene_variant,,ENST00000429234,;AL645941.1,downstream_gene_variant,,ENST00000390777,;HLA-DMB,non_coding_transcript_exon_variant,,ENST00000498020,;HLA-DMB,non_coding_transcript_exon_variant,,ENST00000477537,;HLA-DMB,non_coding_transcript_exon_variant,,ENST00000487996,;	uc003ocl.1	c.733C>T	996/1397	1	1			c.733C>T						6	SNP	c.(733-735)CAC>TAC	55	55				0	Broad	major histocompatibility complex, class II, DM			32903319		0.537	ENSG00000242574	7069	g.chr6:32903319G>A	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex								164.698283	KEEP	40	37	-1	71	60	40	37	-1	167.907961	71	60	0.351515	1	0	0	0	0	1	0	0	0	--	--		0	A			HLA-DMB_uc003ocj.1_3'UTR|HLA-DMB_uc003ock.1_RNA|HLA-DMB_uc010jud.1_Missense_Mutation_p.H114Y|HLA-DMB_uc010jue.1_Intron|HLA-DMB_uc010juf.1_Intron	182	GBM-26-5133-TP	p.H245Y	G	TCACTAGAGTGGCCAGCTCTC	NM_002118	NP_002109	32903319	P28068	DMB_HUMAN	0			4	966	-	A	A			Missense_Mutation	245			Cytoplasmic (Potential).			
HLA-DOA	0	broad.mit.edu	GRCh37	6	32974898	32974898	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5207-01	TCGA-28-5207-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000229829.5:c.708C>T	p.Thr236=	p.T236=	ENST00000229829	NM_002119.3	236	acC/acT	0		A:0	1	A:0		A	T	uc003ocr.2	protein_coding	YES	CCDS4763.1			708/753										0	c.(706-708)ACC>ACT			hmmpanther:PTHR19944,hmmpanther:PTHR19944:SF44,Transmembrane_helices:TMhelix	major histocompatibility complex, class II, DO		A:0.001		ENSP00000229829	A:0	5-Apr	3.29E-05			0.000465					rs570962980,COSM1158953	5-Apr	common_variant		ENST00000229829	Transcript		A:0.0002	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	ENSG00000204252	g.chr6:32974898G>A	4936			LOW								--	--	1																																		HLA-DOA_uc010juj.2_Intron|HLA-DOA_uc010jui.2_3'UTR	0,1	1			p.T236T	NM_002119	NP_002110	A:0		0,1	DOA_HUMAN	HLA-DOA	HGNC	P06340	DOA_HUMAN					4	784	-			UPI0000000CD0	236			Helical; (Potential).		SNV	HLA-DOA,synonymous_variant,p.=,ENST00000229829,NM_002119.3;HLA-DOA,intron_variant,,ENST00000450833,;HLA-DOA,downstream_gene_variant,,ENST00000374813,;HLA-DOA,non_coding_transcript_exon_variant,,ENST00000490305,;HLA-DOA,downstream_gene_variant,,ENST00000495532,;HLA-DOA,downstream_gene_variant,,ENST00000467465,;HLA-DOA,non_coding_transcript_exon_variant,,ENST00000485901,;	uc003ocr.2	c.708C>T	784/3489	1	1			c.708C>T						6	SNP	c.(706-708)ACC>ACT	60	60				0	Broad	major histocompatibility complex, class II, DO			32974898		0.627	ENSG00000204252	7070	g.chr6:32974898G>A	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity							174.379897	KEEP	27	34	-1	35	55	27	34	-1	175.261889	35	55	0.414286	1	0	0	0	0	0	0	1	0	--	--		0	A			HLA-DOA_uc010juj.2_Intron|HLA-DOA_uc010jui.2_3'UTR	216	GBM-28-5207-TP	p.T236T	G	TGATGAGGACGGTGCCCACGA	NM_002119	NP_002110	32974898	P06340	DOA_HUMAN	0			4	784	-	A	A			Silent	236			Helical; (Potential).			
HLA-DRA	0	broad.mit.edu	GRCh37	6	32410459	32410459	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01	TCGA-32-4213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395388.2:c.317C>T	p.Pro106Leu	p.P106L	ENST00000395388	NM_019111.4	106	cCg/cTg	0			1			T	P/L	uc003obh.2	protein_coding	YES	CCDS4750.1			317/765									ovary(1)|skin(1)	2	c.(316-318)CCG>CTG			Gene3D:3.10.320.10,Pfam_domain:PF00993,hmmpanther:PTHR19944,hmmpanther:PTHR19944:SF47,SMART_domains:SM00920,Superfamily_domains:SSF54452	major histocompatibility complex, class II, DR				ENSP00000378786		5-Feb									rs754838655,COSM3410983	5-Feb	.	T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Kaposi_Sarcoma_Familial_Clustering_of	ENST00000395388	Transcript	1		antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	ENSG00000204287	g.chr6:32410459C>T	4947			MODERATE		3.195	medium	getma.org/?cm=msa&ty=f&p=DRA_HUMAN&rb=29&re=109&var=P106L	getma.org/pdb.php?prot=DRA_HUMAN&from=29&to=109&var=P106L	getma.org/?cm=var&var=hg19,6,32410459,C,T&fts=all	P106L	--	--	1																																		HLA-DRA_uc003obi.2_Missense_Mutation_p.P106L	0,1	1		benign(0.109)	p.P106L	NM_019111	NP_061984		tolerated(0.09)	0,1	DRA_HUMAN	HLA-DRA	HGNC	P01903	DRA_HUMAN			Q29868_HUMAN,O19720_HUMAN,O19670_HUMAN,A1A436_HUMAN		2	398	+			UPI000000160D	106			Extracellular (Potential).|Alpha-1.		SNV	HLA-DRA,missense_variant,p.Pro106Leu,ENST00000395388,NM_019111.4;HLA-DRA,missense_variant,p.Pro106Leu,ENST00000374982,;	uc003obh.2	c.317C>T	426/1280	2	2			c.317C>T						6	SNP	c.(316-318)CCG>CTG	24	24			ovary(1)|skin(1)	2	Broad	major histocompatibility complex, class II, DR			32410459	T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Kaposi_Sarcoma_Familial_Clustering_of	0.463	ENSG00000204287	7077	g.chr6:32410459C>T	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity							220.62644	KEEP	40	52	-1	94	116	40	52	-1	229.762463	94	116	0.299213	1	0	0	0	0	1	0	0	0	--	--		0	T			HLA-DRA_uc003obi.2_Missense_Mutation_p.P106L	247	GBM-32-4213-TP	p.P106L	C	AACTATACTCCGATCACCAAT	NM_019111	NP_061984	32410459	P01903	DRA_HUMAN	0			2	398	+	T	T			Missense_Mutation	106			Extracellular (Potential).|Alpha-1.			
HLA-E	0	broad.mit.edu	GRCh37	6	30458930	30458930	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-2571-01	TCGA-41-2571-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376630.4:c.627C>T	p.His209=	p.H209=	ENST00000376630	NM_005516.5	209	caC/caT	0			1			T	H	uc003nqg.2	protein_coding	YES	CCDS34379.1			627/1077									central_nervous_system(4)|ovary(1)	5	c.(625-627)CAC>CAT			Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF133,Superfamily_domains:SSF48726	major histocompatibility complex, class I, E				ENSP00000365817		8-Apr	8.24E-06					1.51E-05			rs774785851,COSM3410907	8-Apr	.		ENST00000376630	Transcript			antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	ENSG00000204592	g.chr6:30458930C>T	4962			LOW								--	--	1																																		HLA-E_uc011dmg.1_RNA|HLA-E_uc011dmh.1_Silent_p.H250H	0,1	1			p.H209H	NM_005516	NP_005507			0,1		HLA-E	HGNC	P13747	HLAE_HUMAN			Q9TNU8_HUMAN,Q9MW44_HUMAN,Q7Z367_HUMAN,Q6KBZ5_HUMAN,Q6DU44_HUMAN,Q59EE1_HUMAN,Q30168_HUMAN,Q2L6I5_HUMAN,Q29896_HUMAN,O19744_HUMAN,O19683_HUMAN,O19682_HUMAN,I3RW89_HUMAN,E2G051_HUMAN		4	665	+			UPI000000DD70	209			Ig-like C1-type.|Alpha-3.|Extracellular (Potential).		SNV	HLA-E,synonymous_variant,p.=,ENST00000376630,NM_005516.5;HLA-E,non_coding_transcript_exon_variant,,ENST00000493699,;HLA-E,downstream_gene_variant,,ENST00000484194,;RANP1,downstream_gene_variant,,ENST00000455094,;RANP1,downstream_gene_variant,,ENST00000437856,;	uc003nqg.2	c.627C>T	692/2601	1	1			c.627C>T						6	SNP	c.(625-627)CAC>CAT	10	10			central_nervous_system(4)|ovary(1)	5	Broad	major histocompatibility complex, class I, E			30458930		0.582	ENSG00000204592	7080	g.chr6:30458930C>T	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity							225.304483	KEEP	55	40	-1	64	81	55	40	-1	227.871283	64	81	0.380488	1	0	0	0	0	0	0	1	0	--	--		0	T			HLA-E_uc011dmg.1_RNA|HLA-E_uc011dmh.1_Silent_p.H250H	250	GBM-41-2571-TP	p.H209H	C	CAAAGACACACGTGACTCACC	NM_005516	NP_005507	30458930	P13747	HLAE_HUMAN	0			4	665	+	T	T			Silent	209			Ig-like C1-type.|Alpha-3.|Extracellular (Potential).			
HLA-F	3134	broad.mit.edu	GRCh37	6	29694676	29694676	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0158-01	TCGA-06-0158-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259951.7:c.1053C>T	p.Ser351=	p.S351=	ENST00000259951	NM_001098479.1	351	agC/agT	0			1			T		uc003nno.3	protein_coding		CCDS43438.1			-/1041										0	c.(1051-1053)AGC>AGT	376			major histocompatibility complex, class I, F				ENSP00000334263			8.41E-06		8.79E-05						rs778687923,COSM3250861		.		ENST00000334668	Transcript			antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	ENSG00000204642	g.chr6:29694676C>T	4963			MODIFIER								--	--	1																																		HLA-F_uc011dlx.1_Silent_p.S351S|HLA-F_uc011dly.1_RNA|LOC285830_uc003nnp.2_RNA|LOC285830_uc011dlz.1_RNA	0,1				p.S351S	NM_001098479	NP_001091949			0,1	HLAF_HUMAN	HLA-F	HGNC	P30511	HLAF_HUMAN			O78094_HUMAN,F6T2Q8_HUMAN		7	1177	+			UPI00000894FC	Error:Variant_position_missing_in_P30511_after_alignment					SNV	HLA-F,synonymous_variant,p.=,ENST00000440587,;HLA-F,synonymous_variant,p.=,ENST00000259951,NM_001098479.1;HLA-F,synonymous_variant,p.=,ENST00000444621,;HLA-F,downstream_gene_variant,,ENST00000376861,;HLA-F,downstream_gene_variant,,ENST00000334668,NM_018950.2;HLA-F,downstream_gene_variant,,ENST00000434407,NM_001098478.1;HLA-F,downstream_gene_variant,,ENST00000429294,;HLA-F,downstream_gene_variant,,ENST00000414333,;HLA-F-AS1,non_coding_transcript_exon_variant,,ENST00000399247,;HLA-F,intron_variant,,ENST00000475996,;HLA-F,intron_variant,,ENST00000465459,;HLA-F,downstream_gene_variant,,ENST00000484704,;HLA-F,downstream_gene_variant,,ENST00000462777,;HLA-F,downstream_gene_variant,,ENST00000485513,;HLA-F,downstream_gene_variant,,ENST00000486194,;HLA-F,downstream_gene_variant,,ENST00000482257,;HLA-F,downstream_gene_variant,,ENST00000606273,;HLA-F,downstream_gene_variant,,ENST00000489502,;RPL23AP1,non_coding_transcript_exon_variant,,ENST00000428990,;HCG4P11,upstream_gene_variant,,ENST00000427340,;	uc003nno.3	c.1053C>T	-/1281	2	2			c.1053C>T						6	SNP	c.(1051-1053)AGC>AGT	21	21				0	Broad	major histocompatibility complex, class I, F			29694676		0.493	ENSG00000204642	7081	g.chr6:29694676C>T	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity							71.398404	KEEP	19	25	-1	128	109	19	25	-1	96.036737	128	109	0.166667	1	0	0	0	0	0	0	1	0	--	--		0	T			HLA-F_uc011dlx.1_Silent_p.S351S|HLA-F_uc011dly.1_RNA|LOC285830_uc003nnp.2_RNA|LOC285830_uc011dlz.1_RNA	29	GBM-06-0158-TP	p.S351S	C	CAGTGGTCAGCGGAAACTTGA	NM_001098479	NP_001091949	29694676	P30511	HLAF_HUMAN	0			7	1177	+	T	T			Silent	Error:Variant_position_missing_in_P30511_after_alignment						
HLA-F	3134	broad.mit.edu	GRCh37	6	29691648	29691648	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0192-01	TCGA-06-0192-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259951.7:c.278A>G	p.Gln93Arg	p.Q93R	ENST00000259951	NM_001098479.1	93	cAg/cGg	0			1			G	Q/R	uc010jrl.2	protein_coding		CCDS43438.1			278/1041										0	c.(277-279)CAG>CGG			hmmpanther:PTHR16675:SF152,hmmpanther:PTHR16675,Gene3D:3.30.500.10,Pfam_domain:PF00129,Superfamily_domains:SSF54452,Prints_domain:PR01638	major histocompatibility complex, class I, F				ENSP00000334263		7-Feb									COSM3410889,COSM3410888	7-Feb	.		ENST00000334668	Transcript			antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	ENSG00000204642	g.chr6:29691648A>G	4963			MODERATE		3.27	medium	getma.org/?cm=msa&ty=f&p=HLAF_HUMAN&rb=22&re=200&var=Q93R	getma.org/pdb.php?prot=HLAF_HUMAN&from=22&to=200&var=Q93R	getma.org/?cm=var&var=hg19,6,29691648,A,G&fts=all	Q93R	--	--	1																																		HLA-F_uc003nnm.3_Missense_Mutation_p.Q93R|HLA-F_uc003nno.3_Missense_Mutation_p.Q93R|HLA-F_uc011dlx.1_Missense_Mutation_p.Q93R|HLA-F_uc011dly.1_RNA	1,1			probably_damaging(0.996)	p.Q93R	NM_018950	NP_061823		deleterious_low_confidence(0.03)	1,1	HLAF_HUMAN	HLA-F	HGNC	P30511	HLAF_HUMAN			O78094_HUMAN,F6T2Q8_HUMAN		2	402	+			UPI00000894FC	93			Alpha-1.|Extracellular (Potential).		SNV	HLA-F,missense_variant,p.Gln93Arg,ENST00000376861,;HLA-F,missense_variant,p.Gln93Arg,ENST00000259951,NM_001098479.1;HLA-F,missense_variant,p.Gln93Arg,ENST00000334668,NM_018950.2;HLA-F,missense_variant,p.Gln93Arg,ENST00000434407,NM_001098478.1;HLA-F,missense_variant,p.Gln93Arg,ENST00000414333,;HLA-F,5_prime_UTR_variant,,ENST00000440587,;HLA-F,upstream_gene_variant,,ENST00000429294,;HLA-F,upstream_gene_variant,,ENST00000444621,;HLA-F,non_coding_transcript_exon_variant,,ENST00000462777,;HLA-F,non_coding_transcript_exon_variant,,ENST00000486194,;HLA-F,non_coding_transcript_exon_variant,,ENST00000482257,;HLA-F,intron_variant,,ENST00000489502,;HLA-F-AS1,downstream_gene_variant,,ENST00000399247,;HLA-F,upstream_gene_variant,,ENST00000475996,;HLA-F,upstream_gene_variant,,ENST00000484704,;HLA-F,upstream_gene_variant,,ENST00000485513,;HLA-F,upstream_gene_variant,,ENST00000465459,;HLA-F,upstream_gene_variant,,ENST00000606273,;HCG4P11,non_coding_transcript_exon_variant,,ENST00000427340,;RPL23AP1,downstream_gene_variant,,ENST00000428990,;	uc010jrl.2	c.278A>G	402/1281	4	4			c.278A>G						6	SNP	c.(277-279)CAG>CGG	18	18				0	Broad	major histocompatibility complex, class I, F			29691648		0.682	ENSG00000204642	7081	g.chr6:29691648A>G	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity							17.142587	KEEP	1	5	-1	6	9	1	5	-1	17.85712	6	9	0.3	1	0	0	0	0	1	0	0	0	--	--		0	G			HLA-F_uc003nnm.3_Missense_Mutation_p.Q93R|HLA-F_uc003nno.3_Missense_Mutation_p.Q93R|HLA-F_uc011dlx.1_Missense_Mutation_p.Q93R|HLA-F_uc011dly.1_RNA	44	GBM-06-0192-TP	p.Q93R	A	GCCAACGCACAGACTGACCGA	NM_018950	NP_061823	29691648	P30511	HLAF_HUMAN	0			2	402	+	G	G			Missense_Mutation	93			Alpha-1.|Extracellular (Potential).			
HLA-G	0	broad.mit.edu	GRCh37	6	29797340	29797340	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-26-5135-01	TCGA-26-5135-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360323.6:c.765G>C	p.Val255=	p.V255=	ENST00000360323		255	gtG/gtC	0			1			C	V	uc003nnw.2	protein_coding		CCDS4668.1			765/1017									ovary(3)|central_nervous_system(1)	4	c.(763-765)GTG>GTC			Gene3D:2.60.40.10,Pfam_domain:PF07654,PROSITE_profiles:PS50835,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF149,SMART_domains:SM00407,Superfamily_domains:SSF48726	major histocompatibility complex, class I, G				ENSP00000353472		7-Apr									COSM2157096	7-Apr	.		ENST00000360323	Transcript			antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	ENSG00000204632	g.chr6:29797340G>C	4964			LOW								--	--	1																																		HLA-G_uc011dmb.1_Silent_p.V227V|HLA-G_uc003raj.3_Silent_p.V260V|HLA-G_uc003nnz.3_Silent_p.V163V|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_RNA|HLA-G_uc003ran.1_5'Flank	1				p.V255V	NM_002127	NP_002118			1	HLAG_HUMAN	HLA-G	HGNC	P17693	HLAG_HUMAN			Q6DU14_HUMAN,M9TK49_HUMAN,Q9UM45_HUMAN,Q9TP14_HUMAN,Q9TP13_HUMAN,Q9TP12_HUMAN,Q9TP11_HUMAN,Q9TP10_HUMAN,Q95356_HUMAN,Q7JFN0_HUMAN,Q6DL89_HUMAN,Q6DL88_HUMAN,Q6DL87_HUMAN,Q6DL86_HUMAN,Q6DL85_HUMAN,Q6B9Y6_HUMAN,Q6B9Y4_HUMAN,Q6B9Y3_HUMAN,Q6B9Y2_HUMAN,Q6B9Y1_HUMAN,Q6B845_HUMAN,Q68YS4_HUMAN,Q68YS3_HUMAN,Q68YS2_HUMAN,Q68YS1_HUMAN,Q68YS0_HUMAN,Q68YR9_HUMAN,Q68YR8_HUMAN,Q30182_HUMAN,O78136_HUMAN,O78135_HUMAN,O78134_HUMAN,O78133_HUMAN,O78131_HUMAN,O19809_HUMAN,O19807_HUMAN,O19806_HUMAN,O19805_HUMAN,O19768_HUMAN,O19767_HUMAN,O19766_HUMAN,O19745_HUMAN,O19684_HUMAN,O19659_HUMAN,O19658_HUMAN,O02928_HUMAN,O02927_HUMAN,O02926_HUMAN,O02923_HUMAN,J3JRT1_HUMAN,C7SJ32_HUMAN,C0JTC7_HUMAN,C0JT30_HUMAN,C0JT28_HUMAN,C0JSV3_HUMAN,C0JSV2_HUMAN,B5LFX9_HUMAN,B1P198_HUMAN,A5HSK0_HUMAN		5	943	+			UPI000000166E	255			Extracellular (Potential).|Ig-like C1-type.|Alpha-3.		SNV	HLA-G,synonymous_variant,p.=,ENST00000428701,NM_002127.5;HLA-G,synonymous_variant,p.=,ENST00000376828,;HLA-G,synonymous_variant,p.=,ENST00000360323,;HLA-G,synonymous_variant,p.=,ENST00000376818,;HLA-G,intron_variant,,ENST00000376815,;HLA-G,synonymous_variant,p.=,ENST00000478519,;HLA-G,non_coding_transcript_exon_variant,,ENST00000478355,;HCG4P8,upstream_gene_variant,,ENST00000443049,;	uc003nnw.2	c.765G>C	789/1427	3	3			c.765G>C						6	SNP	c.(763-765)GTG>GTC	11	11			ovary(3)|central_nervous_system(1)	4	Broad	major histocompatibility complex, class I, G			29797340		0.632	ENSG00000204632	7082	g.chr6:29797340G>C	antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity							231.789299	KEEP	48	36	-1	89	78	48	36	-1	237.108415	89	78	0.339056	1	0	0	0	0	0	0	1	0	--	--		0	C			HLA-G_uc011dmb.1_Silent_p.V227V|HLA-G_uc003raj.3_Silent_p.V260V|HLA-G_uc003nnz.3_Silent_p.V163V|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_RNA|HLA-G_uc003ran.1_5'Flank	184	GBM-26-5135-TP	p.V255V	G	TGGAGCTCGTGGAGACCAGGC	NM_002127	NP_002118	29797340	P17693	HLAG_HUMAN	0			5	943	+	C	C			Silent	255			Extracellular (Potential).|Ig-like C1-type.|Alpha-3.			
HLA-H	3136		GRCh37	6	29855999	29855999	+	splice_region_variant,non_coding_transcript_exon_variant	Splice_Region	SNP	G	G	A			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000383326.4:n.526G>A		p.X176_splice	ENST00000383326		176		0																																																																																																																																																																																																																																												
HLA-J	3137		GRCh37	6	29977342	29977342	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000462773.1:n.915A>T		p.*305*	ENST00000462773				0																																																																																																																																																																																																																																												
HLF	3131	broad.mit.edu	GRCh37	17	53398080	53398080	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01	TCGA-06-0939-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000226067.5:c.728G>A	p.Arg243His	p.R243H	ENST00000226067	NM_002126.4	243	cGc/cAc	0			1			A	R/H	uc002iug.1	protein_coding	YES	CCDS11585.1			728/888	T		TCF3		ALL				ovary(2)	2	c.(727-729)CGC>CAC			Low_complexity_(Seg):seg,PROSITE_profiles:PS50217,hmmpanther:PTHR11988,hmmpanther:PTHR11988:SF28,Gene3D:1.20.5.170,Pfam_domain:PF07716,SMART_domains:SM00338,Superfamily_domains:SSF57959	hepatic leukemia factor				ENSP00000226067		4-Apr									COSM2152414	4-Apr	.		ENST00000226067	Transcript	1		multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000108924	g.chr17:53398080G>A	4977			MODERATE		4.1	high	getma.org/?cm=msa&ty=f&p=HLF_HUMAN&rb=224&re=277&var=R243H	NA	getma.org/?cm=var&var=hg19,17,53398080,G,A&fts=all	R243H	--	--	1																																		HLF_uc010dce.1_Missense_Mutation_p.R158H|HLF_uc002iuh.2_Missense_Mutation_p.R158H|HLF_uc010wni.1_Missense_Mutation_p.R190H	1	1		probably_damaging(1)	p.R243H	NM_002126	NP_002117		deleterious(0)	1	HLF_HUMAN	HLF	HGNC	Q16534	HLF_HUMAN			Q6FHS9_HUMAN,A8K1X8_HUMAN		4	1253	+			UPI0000001C51	243			Basic motif.		SNV	HLF,missense_variant,p.Arg243His,ENST00000226067,NM_002126.4;HLF,missense_variant,p.Arg158His,ENST00000575345,;HLF,missense_variant,p.Arg158His,ENST00000573945,;HLF,missense_variant,p.Arg158His,ENST00000430986,;HLF,missense_variant,p.Arg184His,ENST00000572002,;HLF,non_coding_transcript_exon_variant,,ENST00000575307,;HLF,non_coding_transcript_exon_variant,,ENST00000573422,;HLF,downstream_gene_variant,,ENST00000575868,;HLF,3_prime_UTR_variant,,ENST00000570962,;	uc002iug.1	c.728G>A	1201/5547	2	2			c.728G>A	T		TCF3		ALL	17	SNP	c.(727-729)CGC>CAC	30	30			ovary(2)	2	Broad	hepatic leukemia factor			53398080		0.547	ENSG00000108924	7084	g.chr17:53398080G>A	multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			60			60	34.59921	KEEP	9	10	-1	25	24	9	10	-1	37.325118	25	24	0.267857	1	0	0	0	0	1	0	0	0	--	--		0	A			HLF_uc010dce.1_Missense_Mutation_p.R158H|HLF_uc002iuh.2_Missense_Mutation_p.R158H|HLF_uc010wni.1_Missense_Mutation_p.R190H	78	GBM-06-0939-TP	p.R243H	G	AAGCGCTCCCGCGACGCCCGG	NM_002126	NP_002117	53398080	Q16534	HLF_HUMAN	0			4	1253	+	A	A			Missense_Mutation	243			Basic motif.			
HLTF	6596	broad.mit.edu	GRCh37	3	148804115	148804115	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-02-0033-01	TCGA-02-0033-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310053.5:c.9G>A	p.Trp3Ter	p.W3*	ENST00000310053	NM_003071.3	3	tgG/tgA	0			1			T	W/*	uc003ewq.1	protein_coding	YES	CCDS33875.1			30-Sep									ovary(1)	1	c.(7-9)TGG>TGA				helicase-like transcription factor				ENSP00000308944		25-Jan									COSM3408336	25-Jan	.		ENST00000310053	Transcript			chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	ENSG00000071794	g.chr3:148804115C>T	11099			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,3,148804115,C,T&fts=all	W3*	--	--	1																																		HLTF_uc003ewr.1_Nonsense_Mutation_p.W3*|HLTF_uc003ews.1_Nonsense_Mutation_p.W3*|HLTF_uc010hve.1_Nonsense_Mutation_p.W3*	1	1			p.W3*	NM_139048	NP_620636			1	HLTF_HUMAN	HLTF	HGNC	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)				1	227	-			UPI0000161FA7	3					SNV	HLTF,stop_gained,p.Trp3Ter,ENST00000310053,NM_003071.3,NM_139048.2;HLTF,stop_gained,p.Trp3Ter,ENST00000465259,;HLTF,stop_gained,p.Trp3Ter,ENST00000392912,;HLTF,stop_gained,p.Trp3Ter,ENST00000494055,;HLTF-AS1,upstream_gene_variant,,ENST00000492461,;HLTF,non_coding_transcript_exon_variant,,ENST00000481663,;	uc003ewq.1	c.9G>A	203/5317	5	1			c.9G>A						3	SNP	c.(7-9)TGG>TGA	5	5			ovary(1)	1	Broad	helicase-like transcription factor			148804115		0.652	ENSG00000071794	7085	g.chr3:148804115C>T	chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding							6.814951	KEEP	1	2	-1	11	6	1	2	-1	8.278403	11	6	0.1875	1	0	0	0	0	0	1	0	0	--	--		0	T			HLTF_uc003ewr.1_Nonsense_Mutation_p.W3*|HLTF_uc003ews.1_Nonsense_Mutation_p.W3*|HLTF_uc010hve.1_Nonsense_Mutation_p.W3*	2	GBM-02-0033-TP	p.W3*	C	TCTTGAACATCCAGGACATGG	NM_139048	NP_620636	148804115	Q14527	HLTF_HUMAN	0	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		1	227	-	T	T			Nonsense_Mutation	3						
HLTF	0	broad.mit.edu	GRCh37	3	148768105	148768105	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01	TCGA-76-6285-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310053.5:c.1531G>A	p.Gly511Ser	p.G511S	ENST00000310053	NM_003071.3	511	Ggt/Agt	0			1			T	G/S	uc003ewq.1	protein_coding	YES	CCDS33875.1			1531/3030									ovary(1)	1	c.(1531-1533)GGT>AGT			PROSITE_profiles:PS51192,hmmpanther:PTHR10799:SF596,hmmpanther:PTHR10799,Gene3D:3.40.50.300,Pfam_domain:PF00176,SMART_domains:SM00487,Superfamily_domains:SSF52540	helicase-like transcription factor				ENSP00000308944		15/25									COSM3408335	15/25	.		ENST00000310053	Transcript			chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	ENSG00000071794	g.chr3:148768105C>T	11099			MODERATE		2.5	medium	getma.org/?cm=msa&ty=f&p=HLTF_HUMAN&rb=243&re=722&var=G511S	getma.org/pdb.php?prot=HLTF_HUMAN&from=243&to=722&var=G511S	getma.org/?cm=var&var=hg19,3,148768105,C,T&fts=all	G511S	--	--	1																																		HLTF_uc003ewr.1_Missense_Mutation_p.G511S|HLTF_uc003ews.1_Missense_Mutation_p.G510S|HLTF_uc010hve.1_Missense_Mutation_p.G510S	1	1		probably_damaging(1)	p.G511S	NM_139048	NP_620636		deleterious(0)	1	HLTF_HUMAN	HLTF	HGNC	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)				15	1749	-			UPI0000161FA7	511			Helicase ATP-binding.		SNV	HLTF,missense_variant,p.Gly511Ser,ENST00000310053,NM_003071.3,NM_139048.2;HLTF,missense_variant,p.Gly510Ser,ENST00000465259,;HLTF,missense_variant,p.Gly511Ser,ENST00000392912,;HLTF,missense_variant,p.Gly511Ser,ENST00000494055,;HLTF,upstream_gene_variant,,ENST00000467858,;HLTF,non_coding_transcript_exon_variant,,ENST00000493881,;	uc003ewq.1	c.1531G>A	1725/5317	2	2			c.1531G>A						3	SNP	c.(1531-1533)GGT>AGT	17	17			ovary(1)	1	Broad	helicase-like transcription factor			148768105		0.299	ENSG00000071794	7085	g.chr3:148768105C>T	chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding							104.192434	KEEP	12	26	-1	45	48	12	26	-1	109.067848	45	48	0.294574	1	0	0	0	0	1	0	0	0	--	--		0	T			HLTF_uc003ewr.1_Missense_Mutation_p.G511S|HLTF_uc003ews.1_Missense_Mutation_p.G510S|HLTF_uc010hve.1_Missense_Mutation_p.G510S	280	GBM-76-6285-TP	p.G511S	C	CGATCAGGACCATAATAAACA	NM_139048	NP_620636	148768105	Q14527	HLTF_HUMAN	0	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		15	1749	-	T	T			Missense_Mutation	511			Helicase ATP-binding.			
HM13	81502	broad.mit.edu	GRCh37	20	30136902	30136902	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-5413-01	TCGA-06-5413-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398174.3:c.525G>T	p.Trp175Cys	p.W175C	ENST00000398174	NM_178581.1	175	tgG/tgT	0			1			T	W/C	uc002wwe.2	protein_coding		CCDS13182.1			525/1134									breast(1)	1	c.(523-525)TGG>TGT			SMART_domains:SM00730,Pfam_domain:PF04258,hmmpanther:PTHR12174,hmmpanther:PTHR12174:SF23	minor histocompatibility antigen 13 isoform 1				ENSP00000343032		12-May									COSM2153213,COSM2153212	12-May	.		ENST00000340852	Transcript			membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding	ENSG00000101294	g.chr20:30136902G>T	16435			MODERATE		3.105	medium	getma.org/?cm=msa&ty=f&p=HM13_HUMAN&rb=62&re=345&var=W175C	NA	getma.org/?cm=var&var=hg19,20,30136902,G,T&fts=all	W175C	--	--	1																																		HM13_uc002wwc.2_Missense_Mutation_p.W175C|HM13_uc002wwd.2_Missense_Mutation_p.W175C|HM13_uc002wwf.2_Missense_Mutation_p.W51C|HM13_uc010gdu.2_Missense_Mutation_p.W51C	1,1			probably_damaging(0.998)	p.W175C	NM_030789	NP_110416		deleterious(0)	1,1	HM13_HUMAN	HM13	HGNC	Q8TCT9	HM13_HUMAN	all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)				5	639	+	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		UPI000000D7D8	175			Cytoplasmic (Potential).		SNV	HM13,missense_variant,p.Trp175Cys,ENST00000335574,NM_178580.1;HM13,missense_variant,p.Trp175Cys,ENST00000398174,NM_178581.1;HM13,missense_variant,p.Trp175Cys,ENST00000340852,NM_030789.2;HM13,missense_variant,p.Trp175Cys,ENST00000376127,;HM13,missense_variant,p.Trp175Cys,ENST00000344042,;HM13,non_coding_transcript_exon_variant,,ENST00000492709,;HM13,non_coding_transcript_exon_variant,,ENST00000460389,;HM13,non_coding_transcript_exon_variant,,ENST00000464661,;HM13,non_coding_transcript_exon_variant,,ENST00000487964,;HM13,non_coding_transcript_exon_variant,,ENST00000472128,;HM13,non_coding_transcript_exon_variant,,ENST00000469097,;HM13,non_coding_transcript_exon_variant,,ENST00000494153,;HM13,non_coding_transcript_exon_variant,,ENST00000469126,;HM13,non_coding_transcript_exon_variant,,ENST00000483310,;HM13,non_coding_transcript_exon_variant,,ENST00000496438,;HM13,non_coding_transcript_exon_variant,,ENST00000464173,;HM13,intron_variant,,ENST00000460225,;HM13,downstream_gene_variant,,ENST00000464508,;HM13,downstream_gene_variant,,ENST00000479096,;RP3-324O17.4,downstream_gene_variant,,ENST00000394552,;	uc002wwe.2	c.525G>T	649/1606	2	2			c.525G>T						20	SNP	c.(523-525)TGG>TGT	21	21			breast(1)	1	Broad	minor histocompatibility antigen 13 isoform 1			30136902		0.577	ENSG00000101294	7087	g.chr20:30136902G>T	membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding							299.614868	KEEP	62	59	0.512396694	145	143	62	59	0.512396694	314.851917	145	143	0.288714	1	0	0	0	0	1	0	0	0	--	--		0	T			HM13_uc002wwc.2_Missense_Mutation_p.W175C|HM13_uc002wwd.2_Missense_Mutation_p.W175C|HM13_uc002wwf.2_Missense_Mutation_p.W51C|HM13_uc010gdu.2_Missense_Mutation_p.W51C	96	GBM-06-5413-TP	p.W175C	G	TTGGCGTCTGGTACCTGCTGA	NM_030789	NP_110416	30136902	Q8TCT9	HM13_HUMAN	0	all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)		5	639	+	T	T	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Missense_Mutation	175			Cytoplasmic (Potential).			
HMBS	3145	broad.mit.edu	GRCh37	11	118962836	118962836	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0126-01	TCGA-06-0126-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278715.3:c.614T>G	p.Ile205Ser	p.I205S	ENST00000278715	NM_000190.3	205	aTc/aGc	0			1			G	I/S	uc001puz.1	protein_coding	YES	CCDS8409.1			614/1086										0	c.(613-615)ATC>AGC			Superfamily_domains:SSF53850,PIRSF_domain:PIRSF001438,Pfam_domain:PF01379,Gene3D:3.40.190.10,TIGRFAM_domain:TIGR00212,hmmpanther:PTHR11557,HAMAP:MF_00260	hydroxymethylbilane synthase isoform 1				ENSP00000278715		14-Oct									COSM2149409	14-Oct	.	Porphyria_Acute_Intermittent	ENST00000278715	Transcript	1		peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity	ENSG00000256269	g.chr11:118962836T>G	4982			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=HEM3_HUMAN&rb=20&re=236&var=I205S	getma.org/pdb.php?prot=HEM3_HUMAN&from=20&to=236&var=I205S	getma.org/?cm=var&var=hg19,11,118962836,T,G&fts=all	I205S	--	--	1																																		HMBS_uc009zao.1_Missense_Mutation_p.I150S|HMBS_uc001pvc.1_Missense_Mutation_p.I150S|HMBS_uc009zap.1_Missense_Mutation_p.I188S|HMBS_uc001pva.1_Missense_Mutation_p.I205S|HMBS_uc001pvb.1_Intron|HMBS_uc001pvd.1_Missense_Mutation_p.I188S|HMBS_uc001pve.1_Missense_Mutation_p.I188S|HMBS_uc001pvf.1_Missense_Mutation_p.I188S	1	1		benign(0.12)	p.I205S	NM_000190	NP_000181		tolerated(0.06)	1	HEM3_HUMAN	HMBS	HGNC	P08397	HEM3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)	Q68Y91_HUMAN,Q0G847_HUMAN,F5GY90_HUMAN,B5U9V4_HUMAN		10	771	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	UPI000012C47A	205					SNV	HMBS,missense_variant,p.Ile188Ser,ENST00000537841,;HMBS,missense_variant,p.Ile188Ser,ENST00000442944,;HMBS,missense_variant,p.Ile205Ser,ENST00000278715,NM_000190.3;HMBS,missense_variant,p.Ile188Ser,ENST00000542729,NM_001258209.1;HMBS,missense_variant,p.Ile188Ser,ENST00000392841,NM_001024382.1;HMBS,missense_variant,p.Ile205Ser,ENST00000544387,NM_001258208.1;HMBS,missense_variant,p.Ile179Ser,ENST00000546302,;HMBS,intron_variant,,ENST00000543090,;DPAGT1,downstream_gene_variant,,ENST00000409993,;DPAGT1,downstream_gene_variant,,ENST00000354202,NM_001382.3;DPAGT1,downstream_gene_variant,,ENST00000432443,;H2AFX,downstream_gene_variant,,ENST00000530167,NM_002105.2;HMBS,downstream_gene_variant,,ENST00000539986,;HMBS,downstream_gene_variant,,ENST00000535253,;HMBS,downstream_gene_variant,,ENST00000536813,;HMBS,downstream_gene_variant,,ENST00000534956,;HMBS,downstream_gene_variant,,ENST00000536185,;HMBS,splice_region_variant,,ENST00000546226,;HMBS,splice_region_variant,,ENST00000543543,;HMBS,splice_region_variant,,ENST00000542044,;HMBS,splice_region_variant,,ENST00000545621,;HMBS,splice_region_variant,,ENST00000542345,;HMBS,non_coding_transcript_exon_variant,,ENST00000544182,;DPAGT1,downstream_gene_variant,,ENST00000481084,;DPAGT1,downstream_gene_variant,,ENST00000461999,;DPAGT1,downstream_gene_variant,,ENST00000392834,;DPAGT1,downstream_gene_variant,,ENST00000414373,;H2AFX,downstream_gene_variant,,ENST00000375167,;DPAGT1,downstream_gene_variant,,ENST00000442480,;HMBS,downstream_gene_variant,,ENST00000542822,;HMBS,upstream_gene_variant,,ENST00000539045,;HMBS,downstream_gene_variant,,ENST00000535793,;HMBS,downstream_gene_variant,,ENST00000544360,;HMBS,downstream_gene_variant,,ENST00000545901,;HMBS,downstream_gene_variant,,ENST00000543821,;	uc001puz.1	c.614T>G	765/1501	4	4			c.614T>G						11	SNP	c.(613-615)ATC>AGC	20	20				0	Broad	hydroxymethylbilane synthase isoform 1			118962836	Porphyria_Acute_Intermittent	0.537	ENSG00000256269	7089	g.chr11:118962836T>G	peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity							77.741207	KEEP	13	12	-1	24	14	13	12	-1	78.303048	24	14	0.392857	1	0	0	0	0	1	0	0	0	--	--		0	G			HMBS_uc009zao.1_Missense_Mutation_p.I150S|HMBS_uc001pvc.1_Missense_Mutation_p.I150S|HMBS_uc009zap.1_Missense_Mutation_p.I188S|HMBS_uc001pva.1_Missense_Mutation_p.I205S|HMBS_uc001pvb.1_Intron|HMBS_uc001pvd.1_Missense_Mutation_p.I188S|HMBS_uc001pve.1_Missense_Mutation_p.I188S|HMBS_uc001pvf.1_Missense_Mutation_p.I188S	13	GBM-06-0126-TP	p.I205S	T	CCTCCACAGATCCTGCACCCT	NM_000190	NP_000181	118962836	P08397	HEM3_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)	10	771	+	G	G	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	Missense_Mutation	205						
HMCN1	83872	broad.mit.edu	GRCh37	1	186092143	186092143	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01	TCGA-06-0122-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271588.4:c.12290C>T	p.Thr4097Met	p.T4097M	ENST00000271588	NM_031935.2	4097	aCg/aTg	0	T:0		1			T	T/M	uc001grq.1	protein_coding	YES	CCDS30956.1			12290/16908									ovary(22)|skin(1)	23	c.(12289-12291)ACG>ATG			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	hemicentin 1 precursor			T:0.0001	ENSP00000271588		81/107	1.65E-05					1.50E-05		6.06E-05	rs370916387,COSM265447	81/107	.		ENST00000271588	Transcript	1		response to stimulus|visual perception	basement membrane	calcium ion binding	ENSG00000143341	g.chr1:186092143C>T	19194			MODERATE		2.025	medium	getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=4079&re=4165&var=T4097M	getma.org/pdb.php?prot=HMCN1_HUMAN&from=4079&to=4165&var=T4097M	getma.org/?cm=var&var=hg19,1,186092143,C,T&fts=all	T4097M	--	--	1																																			0,1	1		benign(0.031)	p.T4097M	NM_031935	NP_114141			0,1	HMCN1_HUMAN	HMCN1	HGNC	Q96RW7	HMCN1_HUMAN					81	12519	+			UPI0000458C0E	4097			Ig-like C2-type 40.		SNV	HMCN1,missense_variant,p.Thr4097Met,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Thr4097Met,ENST00000367492,;	uc001grq.1	c.12290C>T	12519/18208	2	2			c.12290C>T						1	SNP	c.(12289-12291)ACG>ATG	20	20			ovary(22)|skin(1)	23	Broad	hemicentin 1 precursor			186092143		0.433	ENSG00000143341	7090	g.chr1:186092143C>T	response to stimulus|visual perception	basement membrane	calcium ion binding							89.342995	KEEP	25	10	-1	47	31	25	10	-1	92.160982	47	31	0.323529	1	0	0	0	0	1	0	0	0	--	--		0	T				10	GBM-06-0122-TP	p.T4097M	C	AAGCCCATCACGTTATCCTGT	NM_031935	NP_114141	186092143	Q96RW7	HMCN1_HUMAN	0			81	12519	+	T	T			Missense_Mutation	4097			Ig-like C2-type 40.			
HMCN1	83872	broad.mit.edu	GRCh37	1	186017944	186017945	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-06-0152-01	TCGA-06-0152-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271588.4:c.6557dup	p.Asn2186LysfsTer16	p.N2186Kfs*16	ENST00000271588	NM_031935.2	2184	gaa/gAaa	0			1			A	E/EX	uc001grq.1	protein_coding	YES	CCDS30956.1			6550-6551/16908									ovary(22)|skin(1)	23	c.(6550-6552)GAAfs			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158,SMART_domains:SM00409,Superfamily_domains:SSF48726	hemicentin 1 precursor				ENSP00000271588		42/107										42/107	.		ENST00000271588	Transcript	1		response to stimulus|visual perception	basement membrane	calcium ion binding	ENSG00000143341	g.chr1:186017944_186017945insA	19194	7		HIGH								--	--	1																																				1			p.E2184fs	NM_031935	NP_114141				HMCN1_HUMAN	HMCN1	HGNC	Q96RW7	HMCN1_HUMAN					42	6779_6780	+			UPI0000458C0E	2184	E -> EK (in Ref. 1).		Ig-like C2-type 19.		insertion	HMCN1,frameshift_variant,p.Asn2186LysfsTer16,ENST00000271588,NM_031935.2;HMCN1,frameshift_variant,p.Asn2186LysfsTer16,ENST00000367492,;	uc001grq.1	c.6550_6551insA	6779-6780/18208	5	5			c.6550_6551insA						1	INS	c.(6550-6552)GAAfs	1	1			ovary(22)|skin(1)	23	Broad	hemicentin 1 precursor			186017945		0.361	ENSG00000143341	7090	g.chr1:186017944_186017945insA	response to stimulus|visual perception	basement membrane	calcium ion binding																				0.53	1	0	0	1	1	0	0	0	0	--	--		0	A				25	GBM-06-0152-TP	p.E2184fs	-	TGGAAAAACTGAAAAAAACTAC	NM_031935	NP_114141	186017944	Q96RW7	HMCN1_HUMAN	0			42	6779_6780	+	A	A			Frame_Shift_Ins	2184	E -> EK (in Ref. 1).		Ig-like C2-type 19.			
HMCN1	83872	broad.mit.edu	GRCh37	1	186008959	186008959	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0184-01	TCGA-06-0184-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271588.4:c.6128T>C	p.Leu2043Pro	p.L2043P	ENST00000271588	NM_031935.2	2043	cTg/cCg	0			1			C	L/P	uc001grq.1	protein_coding	YES	CCDS30956.1			6128/16908									ovary(22)|skin(1)	23	c.(6127-6129)CTG>CCG			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	hemicentin 1 precursor				ENSP00000271588		39/107	8.24E-06					1.50E-05			rs760267580,COSM3400101	39/107	.		ENST00000271588	Transcript	1		response to stimulus|visual perception	basement membrane	calcium ion binding	ENSG00000143341	g.chr1:186008959T>C	19194			MODERATE		2.45	medium	getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=2012&re=2100&var=L2043P	getma.org/pdb.php?prot=HMCN1_HUMAN&from=2012&to=2100&var=L2043P	getma.org/?cm=var&var=hg19,1,186008959,T,C&fts=all	L2043P	--	--	1																																			0,1	1		probably_damaging(0.999)	p.L2043P	NM_031935	NP_114141			0,1	HMCN1_HUMAN	HMCN1	HGNC	Q96RW7	HMCN1_HUMAN					39	6357	+			UPI0000458C0E	2043			Ig-like C2-type 18.		SNV	HMCN1,missense_variant,p.Leu2043Pro,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Leu2043Pro,ENST00000367492,;	uc001grq.1	c.6128T>C	6357/18208	4	4			c.6128T>C						1	SNP	c.(6127-6129)CTG>CCG	41	41			ovary(22)|skin(1)	23	Broad	hemicentin 1 precursor			186008959		0.443	ENSG00000143341	7090	g.chr1:186008959T>C	response to stimulus|visual perception	basement membrane	calcium ion binding							-14.880396	KEEP	7	6	-1	119	107	7	6	-1	28.632921	119	107	0.056872	1	0	0	0	0	1	0	0	0	--	--		0	C				39	GBM-06-0184-TP	p.L2043P	T	GCCCCAAGTCTGACCTGGTTG	NM_031935	NP_114141	186008959	Q96RW7	HMCN1_HUMAN	0			39	6357	+	C	C			Missense_Mutation	2043			Ig-like C2-type 18.			
HMCN1	83872	broad.mit.edu	GRCh37	1	185815175	185815175	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0189-01	TCGA-06-0189-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271588.4:c.286A>T	p.Ile96Phe	p.I96F	ENST00000271588	NM_031935.2	96	Att/Ttt	0			1			T	I/F	uc001grq.1	protein_coding	YES	CCDS30956.1			286/16908									ovary(22)|skin(1)	23	c.(286-288)ATT>TTT			Gene3D:3.40.50.410,Pfam_domain:PF13519,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158,Superfamily_domains:SSF53300	hemicentin 1 precursor				ENSP00000271588		2/107									COSM3400097	2/107	.		ENST00000271588	Transcript	1		response to stimulus|visual perception	basement membrane	calcium ion binding	ENSG00000143341	g.chr1:185815175A>T	19194			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=41&re=212&var=I96F	NA	getma.org/?cm=var&var=hg19,1,185815175,A,T&fts=all	I96F	--	--	1																																			1	1		benign(0.165)	p.I96F	NM_031935	NP_114141			1	HMCN1_HUMAN	HMCN1	HGNC	Q96RW7	HMCN1_HUMAN					2	515	+			UPI0000458C0E	96			VWFA.		SNV	HMCN1,missense_variant,p.Ile96Phe,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Ile96Phe,ENST00000367492,;	uc001grq.1	c.286A>T	515/18208	2	2			c.286A>T						1	SNP	c.(286-288)ATT>TTT	29	29			ovary(22)|skin(1)	23	Broad	hemicentin 1 precursor			185815175		0.358	ENSG00000143341	7090	g.chr1:185815175A>T	response to stimulus|visual perception	basement membrane	calcium ion binding							11.280351	KEEP	8	3	-1	54	46	8	3	-1	24.989865	54	46	0.10989	1	0	0	0	0	1	0	0	0	--	--		0	T				42	GBM-06-0189-TP	p.I96F	A	CCCAGTGACAATTACCACAGA	NM_031935	NP_114141	185815175	Q96RW7	HMCN1_HUMAN	0			2	515	+	T	T			Missense_Mutation	96			VWFA.			
HMCN1	83872	broad.mit.edu	GRCh37	1	186088926	186088926	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271588.4:c.12006C>T	p.Asn4002=	p.N4002=	ENST00000271588	NM_031935.2	4002	aaC/aaT	0			1			T	N	uc001grq.1	protein_coding	YES	CCDS30956.1			12006/16908									ovary(22)|skin(1)	23	c.(12004-12006)AAC>AAT			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	hemicentin 1 precursor				ENSP00000271588		79/107									COSM2151483	79/107	.		ENST00000271588	Transcript	1		response to stimulus|visual perception	basement membrane	calcium ion binding	ENSG00000143341	g.chr1:186088926C>T	19194			LOW								--	--	1																																			1	1			p.N4002N	NM_031935	NP_114141			1	HMCN1_HUMAN	HMCN1	HGNC	Q96RW7	HMCN1_HUMAN					79	12235	+			UPI0000458C0E	4002			Ig-like C2-type 39.		SNV	HMCN1,synonymous_variant,p.=,ENST00000271588,NM_031935.2;HMCN1,synonymous_variant,p.=,ENST00000367492,;	uc001grq.1	c.12006C>T	12235/18208	1	1			c.12006C>T						1	SNP	c.(12004-12006)AAC>AAT	7	7			ovary(22)|skin(1)	23	Broad	hemicentin 1 precursor			186088926		0.388	ENSG00000143341	7090	g.chr1:186088926C>T	response to stimulus|visual perception	basement membrane	calcium ion binding							72.816484	KEEP	15	19	-1	31	32	15	19	-1	74.236056	31	32	0.366667	1	0	0	0	0	0	0	1	0	--	--		0	T				62	GBM-06-0649-TP	p.N4002N	C	TCATTCTGAACAATCCTATTT	NM_031935	NP_114141	186088926	Q96RW7	HMCN1_HUMAN	0			79	12235	+	T	T			Silent	4002			Ig-like C2-type 39.			
HMCN1	0	broad.mit.edu	GRCh37	1	186106708	186106708	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6700-01	TCGA-06-6700-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271588.4:c.13661G>A	p.Arg4554His	p.R4554H	ENST00000271588	NM_031935.2	4554	cGt/cAt	0			1			A	R/H	uc001grq.1	protein_coding	YES	CCDS30956.1			13661/16908									ovary(22)|skin(1)	23	c.(13660-13662)CGT>CAT			Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158,SMART_domains:SM00209,Superfamily_domains:SSF82895	hemicentin 1 precursor				ENSP00000271588		88/107	8.24E-06		8.86E-05						rs755169660,COSM3400108	88/107	.		ENST00000271588	Transcript	1		response to stimulus|visual perception	basement membrane	calcium ion binding	ENSG00000143341	g.chr1:186106708G>A	19194			MODERATE		4.305	high	getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=4533&re=4583&var=R4554H	getma.org/pdb.php?prot=HMCN1_HUMAN&from=4533&to=4583&var=R4554H	getma.org/?cm=var&var=hg19,1,186106708,G,A&fts=all	R4554H	--	--	1																																		HMCN1_uc001grs.1_Missense_Mutation_p.R123H	0,1	1		probably_damaging(0.996)	p.R4554H	NM_031935	NP_114141			0,1	HMCN1_HUMAN	HMCN1	HGNC	Q96RW7	HMCN1_HUMAN					88	13890	+			UPI0000458C0E	4554			TSP type-1 1.		SNV	HMCN1,missense_variant,p.Arg4554His,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Arg4554His,ENST00000367492,;	uc001grq.1	c.13661G>A	13890/18208	2	2			c.13661G>A						1	SNP	c.(13660-13662)CGT>CAT	29	29			ovary(22)|skin(1)	23	Broad	hemicentin 1 precursor			186106708		0.488	ENSG00000143341	7090	g.chr1:186106708G>A	response to stimulus|visual perception	basement membrane	calcium ion binding							5.449053	KEEP	3	3	-1	14	23	3	3	-1	11.430936	14	23	0.119048	1	0	0	0	0	1	0	0	0	--	--		0	A			HMCN1_uc001grs.1_Missense_Mutation_p.R123H	114	GBM-06-6700-TP	p.R4554H	G	AAGAGGAGTCGTCTGTGCAAC	NM_031935	NP_114141	186106708	Q96RW7	HMCN1_HUMAN	0			88	13890	+	A	A			Missense_Mutation	4554			TSP type-1 1.			
HMCN1	0	broad.mit.edu	GRCh37	1	186099788	186099788	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0787-01	TCGA-14-0787-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271588.4:c.13189C>T	p.Arg4397Trp	p.R4397W	ENST00000271588	NM_031935.2	4397	Cgg/Tgg	0			1			T	R/W	uc001grq.1	protein_coding	YES	CCDS30956.1			13189/16908									ovary(22)|skin(1)	23	c.(13189-13191)CGG>TGG			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	hemicentin 1 precursor				ENSP00000271588		85/107	8.24E-06							6.06E-05	rs776115129,COSM3400107	85/107	.		ENST00000271588	Transcript	1		response to stimulus|visual perception	basement membrane	calcium ion binding	ENSG00000143341	g.chr1:186099788C>T	19194			MODERATE		1.76	low	getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=4355&re=4436&var=R4397W	getma.org/pdb.php?prot=HMCN1_HUMAN&from=4355&to=4436&var=R4397W	getma.org/?cm=var&var=hg19,1,186099788,C,T&fts=all	R4397W	--	--	1																																		HMCN1_uc001grs.1_5'UTR	0,1	1		possibly_damaging(0.863)	p.R4397W	NM_031935	NP_114141			0,1	HMCN1_HUMAN	HMCN1	HGNC	Q96RW7	HMCN1_HUMAN					85	13418	+			UPI0000458C0E	4397			Ig-like C2-type 43.		SNV	HMCN1,missense_variant,p.Arg4397Trp,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Arg4397Trp,ENST00000367492,;	uc001grq.1	c.13189C>T	13418/18208	1	1			c.13189C>T						1	SNP	c.(13189-13191)CGG>TGG	10	10			ovary(22)|skin(1)	23	Broad	hemicentin 1 precursor			186099788		0.507	ENSG00000143341	7090	g.chr1:186099788C>T	response to stimulus|visual perception	basement membrane	calcium ion binding							106.33928	KEEP	24	18	-1	47	52	24	18	-1	110.123755	47	52	0.310924	1	0	0	0	0	1	0	0	0	--	--		0	T			HMCN1_uc001grs.1_5'UTR	135	GBM-14-0787-TP	p.R4397W	C	CCACAGAATCCGGCAACTGGG	NM_031935	NP_114141	186099788	Q96RW7	HMCN1_HUMAN	0			85	13418	+	T	T			Missense_Mutation	4397			Ig-like C2-type 43.			
HMCN1	0	broad.mit.edu	GRCh37	1	186052023	186052023	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-14-0789-01	TCGA-14-0789-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271588.4:c.8814C>A	p.Ile2938=	p.I2938=	ENST00000271588	NM_031935.2	2938	atC/atA	0			1			A	I	uc001grq.1	protein_coding	YES	CCDS30956.1			8814/16908									ovary(22)|skin(1)	23	c.(8812-8814)ATC>ATA			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	hemicentin 1 precursor				ENSP00000271588		57/107									COSM3400103	57/107	.		ENST00000271588	Transcript	1		response to stimulus|visual perception	basement membrane	calcium ion binding	ENSG00000143341	g.chr1:186052023C>A	19194			LOW								--	--	1																																			1	1			p.I2938I	NM_031935	NP_114141			1	HMCN1_HUMAN	HMCN1	HGNC	Q96RW7	HMCN1_HUMAN					57	9043	+			UPI0000458C0E	2938			Ig-like C2-type 27.		SNV	HMCN1,synonymous_variant,p.=,ENST00000271588,NM_031935.2;HMCN1,synonymous_variant,p.=,ENST00000367492,;	uc001grq.1	c.8814C>A	9043/18208	1	1			c.8814C>A						1	SNP	c.(8812-8814)ATC>ATA	51	51			ovary(22)|skin(1)	23	Broad	hemicentin 1 precursor			186052023		0.323	ENSG00000143341	7090	g.chr1:186052023C>A	response to stimulus|visual perception	basement membrane	calcium ion binding							38.667046	KEEP	12	6	0.333333333	26	18	12	6	0.333333333	38.992286	26	18	0.393939	1	0	0	0	0	0	0	1	0	--	--		0	A				136	GBM-14-0789-TP	p.I2938I	C	TAACAGATATCGGCAGGTATG	NM_031935	NP_114141	186052023	Q96RW7	HMCN1_HUMAN	0			57	9043	+	A	A			Silent	2938			Ig-like C2-type 27.			
HMCN1	0	broad.mit.edu	GRCh37	1	186062774	186062774	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs143555094		TCGA-14-0813-01	TCGA-14-0813-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271588.4:c.10169G>A	p.Arg3390Gln	p.R3390Q	ENST00000271588	NM_031935.2	3390	cGg/cAg	0			1			A	R/Q	uc001grq.1	protein_coding	YES	CCDS30956.1			10169/16908									ovary(22)|skin(1)	23	c.(10168-10170)CGG>CAG			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	hemicentin 1 precursor				ENSP00000271588		66/107	6.59E-05					0.000105	0.0011		rs369620574,COSM2154743	66/107	.		ENST00000271588	Transcript	1		response to stimulus|visual perception	basement membrane	calcium ion binding	ENSG00000143341	g.chr1:186062774G>A	19194			MODERATE		1.22	low	getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=3346&re=3430&var=R3390Q	getma.org/pdb.php?prot=HMCN1_HUMAN&from=3346&to=3430&var=R3390Q	getma.org/?cm=var&var=hg19,1,186062774,G,A&fts=all	R3390Q	--	--	1																																			0,1	1		probably_damaging(0.993)	p.R3390Q	NM_031935	NP_114141			0,1	HMCN1_HUMAN	HMCN1	HGNC	Q96RW7	HMCN1_HUMAN					66	10398	+			UPI0000458C0E	3390			Ig-like C2-type 32.		SNV	HMCN1,missense_variant,p.Arg3390Gln,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Arg3390Gln,ENST00000367492,;	uc001grq.1	c.10169G>A	10398/18208	2	2			c.10169G>A						1	SNP	c.(10168-10170)CGG>CAG	34	34			ovary(22)|skin(1)	23	Broad	hemicentin 1 precursor			186062774		0.428	ENSG00000143341	7090	g.chr1:186062774G>A	response to stimulus|visual perception	basement membrane	calcium ion binding							93.714607	KEEP	25	16	-1	66	59	25	16	-1	101.420589	66	59	0.25	1	0	0	0	0	1	0	0	0	--	--		0	A				138	GBM-14-0813-TP	p.R3390Q	G	TCCCATATCCGGTTACTGGCA	NM_031935	NP_114141	186062774	Q96RW7	HMCN1_HUMAN	0			66	10398	+	A	A			Missense_Mutation	3390			Ig-like C2-type 32.			
HMCN1	0	broad.mit.edu	GRCh37	1	185956668	185956668	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-14-1395-01	TCGA-14-1395-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271588.4:c.3040T>C	p.Trp1014Arg	p.W1014R	ENST00000271588	NM_031935.2	1014	Tgg/Cgg	0			1			C	W/R	uc001grq.1	protein_coding	YES	CCDS30956.1			3040/16908									ovary(22)|skin(1)	23	c.(3040-3042)TGG>CGG			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	hemicentin 1 precursor				ENSP00000271588		20/107									COSM3400100	20/107	.		ENST00000271588	Transcript	1		response to stimulus|visual perception	basement membrane	calcium ion binding	ENSG00000143341	g.chr1:185956668T>C	19194			MODERATE		4.365	high	getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=981&re=1068&var=W1014R	getma.org/pdb.php?prot=HMCN1_HUMAN&from=981&to=1068&var=W1014R	getma.org/?cm=var&var=hg19,1,185956668,T,C&fts=all	W1014R	--	--	1																																		HMCN1_uc001grr.1_Missense_Mutation_p.W355R	1	1		probably_damaging(0.998)	p.W1014R	NM_031935	NP_114141			1	HMCN1_HUMAN	HMCN1	HGNC	Q96RW7	HMCN1_HUMAN					20	3269	+			UPI0000458C0E	1014			Ig-like C2-type 7.		SNV	HMCN1,missense_variant,p.Trp1014Arg,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Trp1014Arg,ENST00000367492,;HMCN1,non_coding_transcript_exon_variant,,ENST00000485744,;	uc001grq.1	c.3040T>C	3269/18208	3	3			c.3040T>C						1	SNP	c.(3040-3042)TGG>CGG	52	52			ovary(22)|skin(1)	23	Broad	hemicentin 1 precursor			185956668		0.453	ENSG00000143341	7090	g.chr1:185956668T>C	response to stimulus|visual perception	basement membrane	calcium ion binding							18.09055	KEEP	13	10	-1	97	90	13	10	-1	47.746067	97	90	0.104712	1	0	0	0	0	1	0	0	0	--	--		0	C			HMCN1_uc001grr.1_Missense_Mutation_p.W355R	144	GBM-14-1395-TP	p.W1014R	T	GTCTGTCATCTGGTCCAAGGT	NM_031935	NP_114141	185956668	Q96RW7	HMCN1_HUMAN	0			20	3269	+	C	C			Missense_Mutation	1014			Ig-like C2-type 7.			
HMCN1	0	broad.mit.edu	GRCh37	1	186050515	186050515	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs142475663		TCGA-19-2620-01	TCGA-19-2620-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271588.4:c.8776C>T	p.Arg2926Ter	p.R2926*	ENST00000271588	NM_031935.2	2926	Cga/Tga	0	T:0.0002		1			T	R/*	uc001grq.1	protein_coding	YES	CCDS30956.1			8776/16908									ovary(22)|skin(1)	23	c.(8776-8778)CGA>TGA			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	hemicentin 1 precursor			T:0.0001	ENSP00000271588		56/107	2.47E-05	9.68E-05				3.00E-05			rs142475663,COSM3400102	56/107	.		ENST00000271588	Transcript	1		response to stimulus|visual perception	basement membrane	calcium ion binding	ENSG00000143341	g.chr1:186050515C>T	19194			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,186050515,C,T&fts=all	R2926*	--	--	1																																			0,1	1			p.R2926*	NM_031935	NP_114141			0,1	HMCN1_HUMAN	HMCN1	HGNC	Q96RW7	HMCN1_HUMAN					56	9005	+			UPI0000458C0E	2926			Ig-like C2-type 27.		SNV	HMCN1,stop_gained,p.Arg2926Ter,ENST00000271588,NM_031935.2;HMCN1,stop_gained,p.Arg2926Ter,ENST00000367492,;	uc001grq.1	c.8776C>T	9005/18208	5	2			c.8776C>T						1	SNP	c.(8776-8778)CGA>TGA	24	24			ovary(22)|skin(1)	23	Broad	hemicentin 1 precursor			186050515		0.338	ENSG00000143341	7090	g.chr1:186050515C>T	response to stimulus|visual perception	basement membrane	calcium ion binding							122.419987	KEEP	29	15	-1	49	38	29	15	-1	125.268356	49	38	0.33871	1	0	0	0	0	0	1	0	0	--	--		0	T				162	GBM-19-2620-TP	p.R2926*	C	ATCTAATGGACGAATTCTGCA	NM_031935	NP_114141	186050515	Q96RW7	HMCN1_HUMAN	0			56	9005	+	T	T			Nonsense_Mutation	2926			Ig-like C2-type 27.			
HMCN1	0	broad.mit.edu	GRCh37	1	186083185	186083185	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs138190200	byFrequency	TCGA-19-2620-01	TCGA-19-2620-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271588.4:c.11206G>A	p.Ala3736Thr	p.A3736T	ENST00000271588	NM_031935.2	3736	Gct/Act	0	A:0.0025	A:0.003	1	A:0.0014		A	A/T	uc001grq.1	protein_coding	YES	CCDS30956.1			11206/16908									ovary(22)|skin(1)	23	c.(11206-11208)GCT>ACT			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	hemicentin 1 precursor		A:0	A:0	ENSP00000271588	A:0	73/107	0.000346	0.00292	0.000259	0.000116		0.00012			rs138190200,COSM208941	73/107	common_variant		ENST00000271588	Transcript	1	A:0.0010	response to stimulus|visual perception	basement membrane	calcium ion binding	ENSG00000143341	g.chr1:186083185G>A	19194			MODERATE		2.8	medium	getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=3713&re=3800&var=A3736T	getma.org/pdb.php?prot=HMCN1_HUMAN&from=3713&to=3800&var=A3736T	getma.org/?cm=var&var=hg19,1,186083185,G,A&fts=all	A3736T	--	--	1																																			0,1	1		benign(0.101)	p.A3736T	NM_031935	NP_114141	A:0		0,1	HMCN1_HUMAN	HMCN1	HGNC	Q96RW7	HMCN1_HUMAN					73	11435	+			UPI0000458C0E	3736			Ig-like C2-type 36.		SNV	HMCN1,missense_variant,p.Ala3736Thr,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Ala3736Thr,ENST00000367492,;	uc001grq.1	c.11206G>A	11435/18208	2	2			c.11206G>A						1	SNP	c.(11206-11208)GCT>ACT	29	29			ovary(22)|skin(1)	23	Broad	hemicentin 1 precursor			186083185		0.408	ENSG00000143341	7090	g.chr1:186083185G>A	response to stimulus|visual perception	basement membrane	calcium ion binding							115.307422	KEEP	25	22	-1	81	53	25	22	-1	124.523604	81	53	0.259887	1	0	0	0	0	1	0	0	0	--	--		0	A				162	GBM-19-2620-TP	p.A3736T	G	GGAATGCATCGCTGAAGGTGT	NM_031935	NP_114141	186083185	Q96RW7	HMCN1_HUMAN	0			73	11435	+	A	A			Missense_Mutation	3736			Ig-like C2-type 36.			
HMCN1	0	broad.mit.edu	GRCh37	1	185958748	185958748	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-4068-01	TCGA-19-4068-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271588.4:c.3177C>T	p.Tyr1059=	p.Y1059=	ENST00000271588	NM_031935.2	1059	taC/taT	0			1			T	Y	uc001grq.1	protein_coding	YES	CCDS30956.1			3177/16908									ovary(22)|skin(1)	23	c.(3175-3177)TAC>TAT			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158,SMART_domains:SM00409,Superfamily_domains:SSF48726	hemicentin 1 precursor				ENSP00000271588		21/107	9.88E-05	0.000192	0.000867						rs757058220,COSM2156507	21/107	common_variant		ENST00000271588	Transcript	1		response to stimulus|visual perception	basement membrane	calcium ion binding	ENSG00000143341	g.chr1:185958748C>T	19194			LOW								--	--	1																																		HMCN1_uc001grr.1_Silent_p.Y400Y	0,1	1			p.Y1059Y	NM_031935	NP_114141			0,1	HMCN1_HUMAN	HMCN1	HGNC	Q96RW7	HMCN1_HUMAN					21	3406	+			UPI0000458C0E	1059			Ig-like C2-type 7.		SNV	HMCN1,synonymous_variant,p.=,ENST00000271588,NM_031935.2;HMCN1,synonymous_variant,p.=,ENST00000367492,;HMCN1,non_coding_transcript_exon_variant,,ENST00000485744,;	uc001grq.1	c.3177C>T	3406/18208	1	1			c.3177C>T						1	SNP	c.(3175-3177)TAC>TAT	10	10			ovary(22)|skin(1)	23	Broad	hemicentin 1 precursor			185958748		0.483	ENSG00000143341	7090	g.chr1:185958748C>T	response to stimulus|visual perception	basement membrane	calcium ion binding							103.743628	KEEP	21	21	-1	28	22	21	21	-1	103.771276	28	22	0.478873	1	0	0	0	0	0	0	1	0	--	--		0	T			HMCN1_uc001grr.1_Silent_p.Y400Y	168	GBM-19-4068-TP	p.Y1059Y	C	CAGCCGGCTACGCCAAAAGGA	NM_031935	NP_114141	185958748	Q96RW7	HMCN1_HUMAN	0			21	3406	+	T	T			Silent	1059			Ig-like C2-type 7.			
HMCN1	0	broad.mit.edu	GRCh37	1	186045741	186045741	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-19-5951-01	TCGA-19-5951-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271588.4:c.8472A>G	p.Val2824=	p.V2824=	ENST00000271588	NM_031935.2	2824	gtA/gtG	0			1			G	V	uc001grq.1	protein_coding	YES	CCDS30956.1			8472/16908									ovary(22)|skin(1)	23	c.(8470-8472)GTA>GTG			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	hemicentin 1 precursor				ENSP00000271588		54/107									COSM2156668	54/107	.		ENST00000271588	Transcript	1		response to stimulus|visual perception	basement membrane	calcium ion binding	ENSG00000143341	g.chr1:186045741A>G	19194			LOW								--	--	1																																			1	1			p.V2824V	NM_031935	NP_114141			1	HMCN1_HUMAN	HMCN1	HGNC	Q96RW7	HMCN1_HUMAN					54	8701	+			UPI0000458C0E	2824			Ig-like C2-type 26.		SNV	HMCN1,synonymous_variant,p.=,ENST00000271588,NM_031935.2;HMCN1,synonymous_variant,p.=,ENST00000367492,;	uc001grq.1	c.8472A>G	8701/18208	3	3			c.8472A>G						1	SNP	c.(8470-8472)GTA>GTG	51	51			ovary(22)|skin(1)	23	Broad	hemicentin 1 precursor			186045741		0.428	ENSG00000143341	7090	g.chr1:186045741A>G	response to stimulus|visual perception	basement membrane	calcium ion binding							71.056886	KEEP	6	17	-1	21	28	6	17	-1	72.731383	21	28	0.328125	1	0	0	0	0	0	0	1	0	--	--		0	G				171	GBM-19-5951-TP	p.V2824V	A	GTGATAAAGTATTGATTTTGC	NM_031935	NP_114141	186045741	Q96RW7	HMCN1_HUMAN	0			54	8701	+	G	G			Silent	2824			Ig-like C2-type 26.			
HMCN1	0	broad.mit.edu	GRCh37	1	186097315	186097315	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-26-5133-01	TCGA-26-5133-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271588.4:c.12796C>A	p.Pro4266Thr	p.P4266T	ENST00000271588	NM_031935.2	4266	Cct/Act	0			1			A	P/T	uc001grq.1	protein_coding	YES	CCDS30956.1			12796/16908									ovary(22)|skin(1)	23	c.(12796-12798)CCT>ACT			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158,SMART_domains:SM00409,Superfamily_domains:SSF48726	hemicentin 1 precursor				ENSP00000271588		83/107									COSM3400106	83/107	.		ENST00000271588	Transcript	1		response to stimulus|visual perception	basement membrane	calcium ion binding	ENSG00000143341	g.chr1:186097315C>A	19194			MODERATE		2.74	medium	getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=4260&re=4345&var=P4266T	getma.org/pdb.php?prot=HMCN1_HUMAN&from=4260&to=4345&var=P4266T	getma.org/?cm=var&var=hg19,1,186097315,C,A&fts=all	P4266T	--	--	1																																		HMCN1_uc001grs.1_5'UTR	1	1		probably_damaging(0.999)	p.P4266T	NM_031935	NP_114141			1	HMCN1_HUMAN	HMCN1	HGNC	Q96RW7	HMCN1_HUMAN					83	13025	+			UPI0000458C0E	4266			Ig-like C2-type 42.		SNV	HMCN1,missense_variant,p.Pro4266Thr,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Pro4266Thr,ENST00000367492,;	uc001grq.1	c.12796C>A	13025/18208	1	1			c.12796C>A						1	SNP	c.(12796-12798)CCT>ACT	64	64			ovary(22)|skin(1)	23	Broad	hemicentin 1 precursor			186097315		0.418	ENSG00000143341	7090	g.chr1:186097315C>A	response to stimulus|visual perception	basement membrane	calcium ion binding							-37.393642	KEEP	3	2	0.4	87	102	3	2	0.4	7.749342	87	102	0.027322	1	0	0	0	0	1	0	0	0	--	--		0	A			HMCN1_uc001grs.1_5'UTR	182	GBM-26-5133-TP	p.P4266T	C	TACTGAACTTCCTGGAGACGT	NM_031935	NP_114141	186097315	Q96RW7	HMCN1_HUMAN	0			83	13025	+	A	A			Missense_Mutation	4266			Ig-like C2-type 42.			
HMCN1	0	broad.mit.edu	GRCh37	1	185878633	185878633	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-27-2523-01	TCGA-27-2523-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271588.4:c.786T>A	p.Asn262Lys	p.N262K	ENST00000271588	NM_031935.2	262	aaT/aaA	0			1			A	N/K	uc001grq.1	protein_coding	YES	CCDS30956.1			786/16908									ovary(22)|skin(1)	23	c.(784-786)AAT>AAA			hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158	hemicentin 1 precursor				ENSP00000271588		5/107									COSM3400099	5/107	.		ENST00000271588	Transcript	1		response to stimulus|visual perception	basement membrane	calcium ion binding	ENSG00000143341	g.chr1:185878633T>A	19194			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=213&re=342&var=N262K	NA	getma.org/?cm=var&var=hg19,1,185878633,T,A&fts=all	N262K	--	--	1																																			1	1		benign(0.021)	p.N262K	NM_031935	NP_114141			1	HMCN1_HUMAN	HMCN1	HGNC	Q96RW7	HMCN1_HUMAN					5	1015	+			UPI0000458C0E	262					SNV	HMCN1,missense_variant,p.Asn262Lys,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Asn262Lys,ENST00000367492,;	uc001grq.1	c.786T>A	1015/18208	1	1			c.786T>A						1	SNP	c.(784-786)AAT>AAA	62	62			ovary(22)|skin(1)	23	Broad	hemicentin 1 precursor			185878633		0.363	ENSG00000143341	7090	g.chr1:185878633T>A	response to stimulus|visual perception	basement membrane	calcium ion binding							120.730941	KEEP	24	25	-1	32	33	24	25	-1	121.167592	32	33	0.428571	1	0	0	0	0	1	0	0	0	--	--		0	A				201	GBM-27-2523-TP	p.N262K	T	AAATTCGCAATCCTTTAGGTG	NM_031935	NP_114141	185878633	Q96RW7	HMCN1_HUMAN	0			5	1015	+	A	A			Missense_Mutation	262						
HMCN1	0	broad.mit.edu	GRCh37	1	186114957	186114957	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271588.4:c.14510G>A	p.Arg4837Gln	p.R4837Q	ENST00000271588	NM_031935.2	4837	cGg/cAg	0			1			A	R/Q	uc001grq.1	protein_coding	YES	CCDS30956.1			14510/16908									ovary(22)|skin(1)	23	c.(14509-14511)CGG>CAG			Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158,SMART_domains:SM00209,Superfamily_domains:SSF82895	hemicentin 1 precursor				ENSP00000271588		93/107	8.24E-06					1.50E-05			rs752242653,COSM1668290	93/107	.		ENST00000271588	Transcript	1		response to stimulus|visual perception	basement membrane	calcium ion binding	ENSG00000143341	g.chr1:186114957G>A	19194			MODERATE		2.855	medium	getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=4818&re=4868&var=R4837Q	getma.org/pdb.php?prot=HMCN1_HUMAN&from=4818&to=4868&var=R4837Q	getma.org/?cm=var&var=hg19,1,186114957,G,A&fts=all	R4837Q	--	--	1																																		HMCN1_uc001grs.1_Missense_Mutation_p.R406Q	0,1	1		probably_damaging(0.979)	p.R4837Q	NM_031935	NP_114141			0,1	HMCN1_HUMAN	HMCN1	HGNC	Q96RW7	HMCN1_HUMAN					93	14739	+			UPI0000458C0E	4837			TSP type-1 6.		SNV	HMCN1,missense_variant,p.Arg4837Gln,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Arg4837Gln,ENST00000367492,;	uc001grq.1	c.14510G>A	14739/18208	2	2			c.14510G>A						1	SNP	c.(14509-14511)CGG>CAG	32	32			ovary(22)|skin(1)	23	Broad	hemicentin 1 precursor			186114957		0.552	ENSG00000143341	7090	g.chr1:186114957G>A	response to stimulus|visual perception	basement membrane	calcium ion binding							10.611252	KEEP	7	8	-1	58	68	7	8	-1	29.78924	58	68	0.1	1	0	0	0	0	1	0	0	0	--	--		0	A			HMCN1_uc001grs.1_Missense_Mutation_p.R406Q	213	GBM-28-2513-TP	p.R4837Q	G	GAAAAGACTCGGAAGCGGCTG	NM_031935	NP_114141	186114957	Q96RW7	HMCN1_HUMAN	0			93	14739	+	A	A			Missense_Mutation	4837			TSP type-1 6.			
HMCN1	0	broad.mit.edu	GRCh37	1	186121993	186121993	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-28-5218-01	TCGA-28-5218-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271588.4:c.15008T>G	p.Val5003Gly	p.V5003G	ENST00000271588	NM_031935.2	5003	gTc/gGc	0			1			G	V/G	uc001grq.1	protein_coding	YES	CCDS30956.1			15008/16908									ovary(22)|skin(1)	23	c.(15007-15009)GTC>GGC			Gene3D:2.40.155.10,Pfam_domain:PF07474,PROSITE_profiles:PS50993,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158,SMART_domains:SM00682,Superfamily_domains:SSF54511	hemicentin 1 precursor				ENSP00000271588		96/107									COSM3747816	96/107	.		ENST00000271588	Transcript	1		response to stimulus|visual perception	basement membrane	calcium ion binding	ENSG00000143341	g.chr1:186121993T>G	19194			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=4869&re=5056&var=V5003G	getma.org/pdb.php?prot=HMCN1_HUMAN&from=4869&to=5056&var=V5003G	getma.org/?cm=var&var=hg19,1,186121993,T,G&fts=all	V5003G	--	--	1																																		HMCN1_uc001grs.1_Missense_Mutation_p.V572G	1	1		probably_damaging(0.992)	p.V5003G	NM_031935	NP_114141			1	HMCN1_HUMAN	HMCN1	HGNC	Q96RW7	HMCN1_HUMAN					96	15237	+			UPI0000458C0E	5003			Nidogen G2 beta-barrel.		SNV	HMCN1,missense_variant,p.Val5003Gly,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Val5003Gly,ENST00000367492,;HMCN1,upstream_gene_variant,,ENST00000475585,;	uc001grq.1	c.15008T>G	15237/18208	3	3			c.15008T>G						1	SNP	c.(15007-15009)GTC>GGC	16	16			ovary(22)|skin(1)	23	Broad	hemicentin 1 precursor			186121993		0.438	ENSG00000143341	7090	g.chr1:186121993T>G	response to stimulus|visual perception	basement membrane	calcium ion binding							122.825148	KEEP	27	34	-1	142	142	27	34	-1	154.090868	142	142	0.171053	1	0	0	0	0	1	0	0	0	--	--		0	G			HMCN1_uc001grs.1_Missense_Mutation_p.V572G	224	GBM-28-5218-TP	p.V5003G	T	CCTGCTGAAGTCACTGTAAAG	NM_031935	NP_114141	186121993	Q96RW7	HMCN1_HUMAN	0			96	15237	+	G	G			Missense_Mutation	5003			Nidogen G2 beta-barrel.			
HMCN1	0	broad.mit.edu	GRCh37	1	186107024	186107024	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-32-2494-01	TCGA-32-2494-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271588.4:c.13844A>T	p.Asn4615Ile	p.N4615I	ENST00000271588	NM_031935.2	4615	aAt/aTt	0			1			T	N/I	uc001grq.1	protein_coding	YES	CCDS30956.1			13844/16908									ovary(22)|skin(1)	23	c.(13843-13845)AAT>ATT			Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158,SMART_domains:SM00209,Superfamily_domains:SSF82895	hemicentin 1 precursor				ENSP00000271588		89/107									COSM3400109	89/107	.		ENST00000271588	Transcript	1		response to stimulus|visual perception	basement membrane	calcium ion binding	ENSG00000143341	g.chr1:186107024A>T	19194			MODERATE		3.435	medium	getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=4590&re=4640&var=N4615I	getma.org/pdb.php?prot=HMCN1_HUMAN&from=4590&to=4640&var=N4615I	getma.org/?cm=var&var=hg19,1,186107024,A,T&fts=all	N4615I	--	--	1																																		HMCN1_uc001grs.1_Missense_Mutation_p.N184I	1	1		possibly_damaging(0.505)	p.N4615I	NM_031935	NP_114141			1	HMCN1_HUMAN	HMCN1	HGNC	Q96RW7	HMCN1_HUMAN					89	14073	+			UPI0000458C0E	4615			TSP type-1 2.		SNV	HMCN1,missense_variant,p.Asn4615Ile,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Asn4615Ile,ENST00000367492,;	uc001grq.1	c.13844A>T	14073/18208	1	1			c.13844A>T						1	SNP	c.(13843-13845)AAT>ATT	4	4			ovary(22)|skin(1)	23	Broad	hemicentin 1 precursor			186107024		0.493	ENSG00000143341	7090	g.chr1:186107024A>T	response to stimulus|visual perception	basement membrane	calcium ion binding							106.2325	KEEP	29	21	-1	68	85	29	21	-1	118.3599	68	85	0.232432	1	0	0	0	0	1	0	0	0	--	--		0	T			HMCN1_uc001grs.1_Missense_Mutation_p.N184I	236	GBM-32-2494-TP	p.N4615I	A	ACTTGCAATAATCCATCAGTT	NM_031935	NP_114141	186107024	Q96RW7	HMCN1_HUMAN	0			89	14073	+	T	T			Missense_Mutation	4615			TSP type-1 2.			
HMCN1	0	broad.mit.edu	GRCh37	1	185878606	185878606	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-4208-01	TCGA-32-4208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271588.4:c.759G>A	p.Gly253=	p.G253=	ENST00000271588	NM_031935.2	253	ggG/ggA	0			1			A	G	uc001grq.1	protein_coding	YES	CCDS30956.1			759/16908									ovary(22)|skin(1)	23	c.(757-759)GGG>GGA			hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158	hemicentin 1 precursor				ENSP00000271588		5/107									COSM3400098	5/107	.		ENST00000271588	Transcript	1		response to stimulus|visual perception	basement membrane	calcium ion binding	ENSG00000143341	g.chr1:185878606G>A	19194			LOW								--	--	1																																			1	1			p.G253G	NM_031935	NP_114141			1	HMCN1_HUMAN	HMCN1	HGNC	Q96RW7	HMCN1_HUMAN					5	988	+			UPI0000458C0E	253					SNV	HMCN1,synonymous_variant,p.=,ENST00000271588,NM_031935.2;HMCN1,synonymous_variant,p.=,ENST00000367492,;	uc001grq.1	c.759G>A	988/18208	2	2			c.759G>A						1	SNP	c.(757-759)GGG>GGA	44	44			ovary(22)|skin(1)	23	Broad	hemicentin 1 precursor			185878606		0.363	ENSG00000143341	7090	g.chr1:185878606G>A	response to stimulus|visual perception	basement membrane	calcium ion binding							-34.422959	KEEP	3	1	-1	84	102	3	1	-1	6.755297	84	102	0.02439	1	0	0	0	0	0	0	1	0	--	--		0	A				243	GBM-32-4208-TP	p.G253G	G	CTTTGAGTGGGCCTTCTCCAA	NM_031935	NP_114141	185878606	Q96RW7	HMCN1_HUMAN	0			5	988	+	A	A			Silent	253						
HMCN1	83872		GRCh37	1	186056355	186056355	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000271588.4:c.9053G>A	p.Arg3018Gln	p.R3018Q	ENST00000271588	NM_031935.2	3018	cGa/cAa	0																																																																																																																																																																																																																																												
HMCN1	83872		GRCh37	1	186092310	186092310	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000271588.4:c.12457G>A	p.Val4153Ile	p.V4153I	ENST00000271588	NM_031935.2	4153	Gta/Ata	0																																																																																																																																																																																																																																												
HMCN1	83872		GRCh37	1	185956672	185956672	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000271588.4:c.3044C>G	p.Ser1015Cys	p.S1015C	ENST00000271588	NM_031935.2	1015	tCc/tGc	0																																																																																																																																																																																																																																												
HMCN1	83872		GRCh37	1	186057366	186057366	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2510-01	TCGA-28-2510-01																				ENST00000271588.4:c.9535C>T	p.Pro3179Ser	p.P3179S	ENST00000271588	NM_031935.2	3179	Cca/Tca	0																																																																																																																																																																																																																																												
HMCN1	83872		GRCh37	1	186134268	186134268	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000271588.4:c.15282C>T	p.Ser5094=	p.S5094=	ENST00000271588	NM_031935.2	5094	tcC/tcT	0																																																																																																																																																																																																																																												
HMGB4	0	broad.mit.edu	GRCh37	1	34330273	34330273	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-81-5910-01	TCGA-81-5910-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000519684.1:c.481C>T	p.Arg161Cys	p.R161C	ENST00000519684	NM_145205.4	161	Cgt/Tgt	0		T:0	1	T:0		T	R/C	uc001bxp.2	protein_coding		CCDS30668.1			481/561										0	c.(481-483)CGT>TGT			PROSITE_profiles:PS50118,hmmpanther:PTHR13711:SF152,hmmpanther:PTHR13711,Pfam_domain:PF00505,Gene3D:1.10.30.10,SMART_domains:SM00398,Superfamily_domains:SSF47095,Prints_domain:PR00886	HMG2 like isoform 1		T:0		ENSP00000429214	T:0.003	2-Feb	0.000478	9.84E-05			0.00348	0.000511			rs192690973,COSM3400707	2-Feb	common_variant		ENST00000519684	Transcript		T:0.0006		nucleus	DNA binding	ENSG00000176256	g.chr1:34330273C>T	24954			MODERATE		2.025	medium	getma.org/?cm=msa&ty=f&p=HMGB4_HUMAN&rb=93&re=161&var=R161C	getma.org/pdb.php?prot=HMGB4_HUMAN&from=93&to=161&var=R161C	getma.org/?cm=var&var=hg19,1,34330273,C,T&fts=all	R161C	--	--	1																																		CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxq.2_Missense_Mutation_p.R87C	0,1			possibly_damaging(0.88)	p.R161C	NM_145205	NP_660206	T:0	deleterious(0.05)	0,1	HMGB4_HUMAN	HMGB4	HGNC	Q8WW32	HMGB4_HUMAN					2	2224	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	UPI000011E2F1	161					SNV	HMGB4,missense_variant,p.Arg161Cys,ENST00000522796,;HMGB4,missense_variant,p.Arg161Cys,ENST00000519684,NM_145205.4;CSMD2,intron_variant,,ENST00000373381,NM_052896.3,NM_001281956.1;RP5-1007G16.1,upstream_gene_variant,,ENST00000425631,;HMGB4,non_coding_transcript_exon_variant,,ENST00000425537,;HMGB4,downstream_gene_variant,,ENST00000458277,;CSMD2,intron_variant,,ENST00000241312,;	uc001bxp.2	c.481C>T	2224/2343	2	2			c.481C>T						1	SNP	c.(481-483)CGT>TGT	33	33				0	Broad	HMG2 like isoform 1			34330273		0.478	ENSG00000176256	7098	g.chr1:34330273C>T		nucleus	DNA binding							47.384641	KEEP	11	7	-1	17	18	11	7	-1	48.442961	17	18	0.340426	1	0	0	0	0	1	0	0	0	--	--		0	T			CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxq.2_Missense_Mutation_p.R87C	289	GBM-81-5910-TP	p.R161C	C	TGAACTCTACCGTAAACAATG	NM_145205	NP_660206	34330273	Q8WW32	HMGB4_HUMAN	0			2	2224	+	T	T		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	Missense_Mutation	161						
HMGCLL1	0	broad.mit.edu	GRCh37	6	55360237	55360237	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-26-5135-01	TCGA-26-5135-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398661.2:c.865A>G	p.Asn289Asp	p.N289D	ENST00000398661	NM_019036.2	289	Aat/Gat	0			1			C	N/D	uc003pcn.2	protein_coding	YES	CCDS43475.1			865/1113									skin(2)|ovary(1)|pancreas(1)	4	c.(865-867)AAT>GAT			PROSITE_profiles:PS50991,hmmpanther:PTHR10277:SF33,hmmpanther:PTHR10277,Pfam_domain:PF00682,Gene3D:3.20.20.70,Superfamily_domains:SSF51569	3-hydroxymethyl-3-methylglutaryl-Coenzyme A				ENSP00000381654		10-Aug									COSM2157054	10-Aug	.		ENST00000398661	Transcript					hydroxymethylglutaryl-CoA lyase activity|metal ion binding	ENSG00000146151	g.chr6:55360237T>C	21359			MODERATE		4.41	high	getma.org/?cm=msa&ty=f&p=HMGC2_HUMAN&rb=86&re=334&var=N289D	getma.org/pdb.php?prot=HMGC2_HUMAN&from=86&to=334&var=N289D	getma.org/?cm=var&var=hg19,6,55360237,T,C&fts=all	N289D	--	--	1																																		HMGCLL1_uc003pco.2_Missense_Mutation_p.N259D|HMGCLL1_uc010jzx.2_Missense_Mutation_p.N160D|HMGCLL1_uc011dxc.1_Missense_Mutation_p.N227D|HMGCLL1_uc011dxd.1_Missense_Mutation_p.N156D|HMGCLL1_uc011dxe.1_Intron	1	1		probably_damaging(0.966)	p.N289D	NM_019036	NP_061909		deleterious(0)	1	HMGC2_HUMAN	HMGCLL1	HGNC	Q8TB92	HMGC2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)				8	1024	-	Lung NSC(77;0.0875)		UPI000023780E	289					SNV	HMGCLL1,missense_variant,p.Asn289Asp,ENST00000398661,NM_019036.2;HMGCLL1,missense_variant,p.Asn259Asp,ENST00000274901,NM_001042406.1;HMGCLL1,missense_variant,p.Asn227Asp,ENST00000308161,;HMGCLL1,missense_variant,p.Asn156Asp,ENST00000370850,;HMGCLL1,intron_variant,,ENST00000508459,;HMGCLL1,3_prime_UTR_variant,,ENST00000370852,NM_001287746.1;	uc003pcn.2	c.865A>G	997/2532	3	3			c.865A>G						6	SNP	c.(865-867)AAT>GAT	2	2			skin(2)|ovary(1)|pancreas(1)	4	Broad	3-hydroxymethyl-3-methylglutaryl-Coenzyme A			55360237		0.398	ENSG00000146151	7100	g.chr6:55360237T>C			hydroxymethylglutaryl-CoA lyase activity|metal ion binding	Ovarian(35;840 893 7837 15538 42887)			Ovarian(35;840 893 7837 15538 42887)			94.497741	KEEP	17	18	-1	46	51	17	18	-1	100.962265	46	51	0.254237	1	0	0	0	0	1	0	0	0	--	--		0	C			HMGCLL1_uc003pco.2_Missense_Mutation_p.N259D|HMGCLL1_uc010jzx.2_Missense_Mutation_p.N160D|HMGCLL1_uc011dxc.1_Missense_Mutation_p.N227D|HMGCLL1_uc011dxd.1_Missense_Mutation_p.N156D|HMGCLL1_uc011dxe.1_Intron	184	GBM-26-5135-TP	p.N289D	T	GTAAGGATATTTGCTAAGGCT	NM_019036	NP_061909	55360237	Q8TB92	HMGC2_HUMAN	0	LUSC - Lung squamous cell carcinoma(124;0.23)		8	1024	-	C	C	Lung NSC(77;0.0875)		Missense_Mutation	289						
HMHA1	0	broad.mit.edu	GRCh37	19	1083208	1083208	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2558-01	TCGA-06-2558-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000539243.2:c.2859G>A	p.Thr953=	p.T953=	ENST00000539243	NM_001258328.1	953	acG/acA	0			1			A	T	uc002lqz.1	protein_coding		CCDS32863.1			2811/3411									lung(1)	1	c.(2809-2811)ACG>ACA			PROSITE_profiles:PS50238,hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF18,Pfam_domain:PF00620,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350	minor histocompatibility antigen HA-1				ENSP00000316772		21/23									COSM2152651,COSM3403736	21/23	.		ENST00000313093	Transcript			regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	ENSG00000180448	g.chr19:1083208G>A	17102			LOW								--	--	1																																		HMHA1_uc010xgd.1_Silent_p.T953T|HMHA1_uc010xge.1_Silent_p.T805T|HMHA1_uc002lra.1_Silent_p.T777T|HMHA1_uc002lrb.1_Silent_p.T820T|HMHA1_uc002lrc.1_Silent_p.T572T|HMHA1_uc002lrd.1_Silent_p.T13T|HMHA1_uc010dsd.1_Silent_p.T43T	1,1				p.T937T	NM_012292	NP_036424			1,1	HMHA1_HUMAN	HMHA1	HGNC	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	O78181_HUMAN		21	3042	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	UPI000008AF58	937			Rho-GAP.		SNV	HMHA1,synonymous_variant,p.=,ENST00000313093,NM_012292.3;HMHA1,synonymous_variant,p.=,ENST00000590214,;HMHA1,synonymous_variant,p.=,ENST00000586866,;HMHA1,synonymous_variant,p.=,ENST00000539243,NM_001258328.1;HMHA1,synonymous_variant,p.=,ENST00000543365,NM_001282335.1;HMHA1,synonymous_variant,p.=,ENST00000536472,;HMHA1,synonymous_variant,p.=,ENST00000590577,NM_001282334.1;POLR2E,downstream_gene_variant,,ENST00000215587,;POLR2E,downstream_gene_variant,,ENST00000586746,NM_002695.3;HMHA1,non_coding_transcript_exon_variant,,ENST00000590512,;HMHA1,intron_variant,,ENST00000591169,;POLR2E,downstream_gene_variant,,ENST00000590060,;HMHA1,3_prime_UTR_variant,,ENST00000587602,;HMHA1,non_coding_transcript_exon_variant,,ENST00000592297,;HMHA1,non_coding_transcript_exon_variant,,ENST00000586378,;POLR2E,downstream_gene_variant,,ENST00000586817,;HMHA1,downstream_gene_variant,,ENST00000586937,;HMHA1,downstream_gene_variant,,ENST00000591293,;	uc002lqz.1	c.2811G>A	3042/4264	2	2			c.2811G>A						19	SNP	c.(2809-2811)ACG>ACA	25	25			lung(1)	1	Broad	minor histocompatibility antigen HA-1			1083208		0.672	ENSG00000180448	7110	g.chr19:1083208G>A	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding							23.199323	KEEP	5	6	-1	13	4	5	6	-1	23.301696	13	4	0.421053	1	0	0	0	0	0	0	1	0	--	--		0	A			HMHA1_uc010xgd.1_Silent_p.T953T|HMHA1_uc010xge.1_Silent_p.T805T|HMHA1_uc002lra.1_Silent_p.T777T|HMHA1_uc002lrb.1_Silent_p.T820T|HMHA1_uc002lrc.1_Silent_p.T572T|HMHA1_uc002lrd.1_Silent_p.T13T|HMHA1_uc010dsd.1_Silent_p.T43T	82	GBM-06-2558-TP	p.T937T	G	TCGGGCCCACGCTGCTTCGGC	NM_012292	NP_036424	1083208	Q92619	HMHA1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	21	3042	+	A	A		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	Silent	937			Rho-GAP.			
HMHA1	0	broad.mit.edu	GRCh37	19	1080274	1080274	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313093.2:c.1724G>A	p.Arg575Gln	p.R575Q	ENST00000313093	NM_012292.3	575	cGg/cAg	0			1			A	R/Q	uc002lqz.1	protein_coding		CCDS32863.1			1724/3411									lung(1)	1	c.(1723-1725)CGG>CAG			hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF18	minor histocompatibility antigen HA-1				ENSP00000316772		14/23									COSM2155244,COSM3748041	14/23	.		ENST00000313093	Transcript			regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	ENSG00000180448	g.chr19:1080274G>A	17102			MODERATE		1.91	medium	getma.org/?cm=msa&ty=f&p=HMHA1_HUMAN&rb=1&re=709&var=R575Q	NA	getma.org/?cm=var&var=hg19,19,1080274,G,A&fts=all	R575Q	--	--	1																																		HMHA1_uc010xgd.1_Missense_Mutation_p.R591Q|HMHA1_uc010xge.1_Missense_Mutation_p.R415Q|HMHA1_uc002lra.1_Missense_Mutation_p.R415Q|HMHA1_uc002lrb.1_Missense_Mutation_p.R458Q|HMHA1_uc002lrc.1_Missense_Mutation_p.R210Q|HMHA1_uc002lrd.1_5'Flank|HMHA1_uc010dsd.1_5'Flank	1,1			possibly_damaging(0.666)	p.R575Q	NM_012292	NP_036424		tolerated(0.06)	1,1	HMHA1_HUMAN	HMHA1	HGNC	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	O78181_HUMAN		14	1955	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	UPI000008AF58	575					SNV	HMHA1,missense_variant,p.Arg575Gln,ENST00000313093,NM_012292.3;HMHA1,missense_variant,p.Arg602Gln,ENST00000590214,;HMHA1,missense_variant,p.Arg579Gln,ENST00000586866,;HMHA1,missense_variant,p.Arg591Gln,ENST00000539243,NM_001258328.1;HMHA1,missense_variant,p.Arg458Gln,ENST00000543365,NM_001282335.1;HMHA1,missense_variant,p.Arg415Gln,ENST00000536472,;HMHA1,missense_variant,p.Arg210Gln,ENST00000590577,NM_001282334.1;HMHA1,upstream_gene_variant,,ENST00000591169,;HMHA1,upstream_gene_variant,,ENST00000590512,;HMHA1,3_prime_UTR_variant,,ENST00000587602,;HMHA1,non_coding_transcript_exon_variant,,ENST00000591293,;HMHA1,upstream_gene_variant,,ENST00000592297,;HMHA1,upstream_gene_variant,,ENST00000586378,;HMHA1,upstream_gene_variant,,ENST00000586937,;	uc002lqz.1	c.1724G>A	1955/4264	2	2			c.1724G>A						19	SNP	c.(1723-1725)CGG>CAG	17	17			lung(1)	1	Broad	minor histocompatibility antigen HA-1			1080274		0.642	ENSG00000180448	7110	g.chr19:1080274G>A	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding							140.817656	KEEP	24	41	-1	74	109	24	41	-1	153.538624	74	109	0.24537	1	0	0	0	0	1	0	0	0	--	--		0	A			HMHA1_uc010xgd.1_Missense_Mutation_p.R591Q|HMHA1_uc010xge.1_Missense_Mutation_p.R415Q|HMHA1_uc002lra.1_Missense_Mutation_p.R415Q|HMHA1_uc002lrb.1_Missense_Mutation_p.R458Q|HMHA1_uc002lrc.1_Missense_Mutation_p.R210Q|HMHA1_uc002lrd.1_5'Flank|HMHA1_uc010dsd.1_5'Flank	142	GBM-14-1034-TP	p.R575Q	G	ATGCGTGCCCGGAAGAGCAGC	NM_012292	NP_036424	1080274	Q92619	HMHA1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1955	+	A	A		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	Missense_Mutation	575						
HMHA1	0	broad.mit.edu	GRCh37	19	1068628	1068628	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-2554-01	TCGA-14-2554-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313093.2:c.306G>A	p.Glu102=	p.E102=	ENST00000313093	NM_012292.3	102	gaG/gaA	0			1			A	E	uc002lqz.1	protein_coding		CCDS32863.1			306/3411									lung(1)	1	c.(304-306)GAG>GAA			hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF18	minor histocompatibility antigen HA-1				ENSP00000316772		23-Feb									COSM3403726	23-Feb	.		ENST00000313093	Transcript			regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	ENSG00000180448	g.chr19:1068628G>A	17102			LOW								--	--	1																																		HMHA1_uc010xgd.1_Silent_p.E118E|HMHA1_uc010xge.1_Intron|HMHA1_uc002lra.1_5'UTR|HMHA1_uc002lrb.1_5'Flank	1				p.E102E	NM_012292	NP_036424			1	HMHA1_HUMAN	HMHA1	HGNC	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	O78181_HUMAN		2	537	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	UPI000008AF58	102					SNV	HMHA1,synonymous_variant,p.=,ENST00000313093,NM_012292.3;HMHA1,synonymous_variant,p.=,ENST00000590214,;HMHA1,synonymous_variant,p.=,ENST00000586866,;HMHA1,synonymous_variant,p.=,ENST00000539243,NM_001258328.1;HMHA1,synonymous_variant,p.=,ENST00000587186,;HMHA1,intron_variant,,ENST00000536472,;ABCA7,downstream_gene_variant,,ENST00000263094,NM_019112.3;ABCA7,downstream_gene_variant,,ENST00000433129,;ABCA7,downstream_gene_variant,,ENST00000435683,;HMHA1,upstream_gene_variant,,ENST00000543365,NM_001282335.1;ABCA7,downstream_gene_variant,,ENST00000525073,;HMHA1,upstream_gene_variant,,ENST00000592335,;ABCA7,downstream_gene_variant,,ENST00000524383,;HMHA1,intron_variant,,ENST00000587602,;HMHA1,intron_variant,,ENST00000591293,;ABCA7,downstream_gene_variant,,ENST00000531478,;HMHA1,upstream_gene_variant,,ENST00000586033,;ABCA7,downstream_gene_variant,,ENST00000525939,;	uc002lqz.1	c.306G>A	537/4264	2	2			c.306G>A						19	SNP	c.(304-306)GAG>GAA	46	46			lung(1)	1	Broad	minor histocompatibility antigen HA-1			1068628		0.716	ENSG00000180448	7110	g.chr19:1068628G>A	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding							32.451081	KEEP	6	8	-1	26	19	6	8	-1	35.231181	26	19	0.254902	1	0	0	0	0	0	0	1	0	--	--		0	A			HMHA1_uc010xgd.1_Silent_p.E118E|HMHA1_uc010xge.1_Intron|HMHA1_uc002lra.1_5'UTR|HMHA1_uc002lrb.1_5'Flank	150	GBM-14-2554-TP	p.E102E	G	GCCCGGGCGAGCTGCCCACCG	NM_012292	NP_036424	1068628	Q92619	HMHA1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	537	+	A	A		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	Silent	102						
HMHA1	0	broad.mit.edu	GRCh37	19	1080969	1080969	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01	TCGA-32-2632-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313093.2:c.2096C>T	p.Ala699Val	p.A699V	ENST00000313093	NM_012292.3	699	gCg/gTg	0			1			T	A/V	uc002lqz.1	protein_coding		CCDS32863.1			2096/3411									lung(1)	1	c.(2095-2097)GCG>GTG			hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF18,Superfamily_domains:SSF57889	minor histocompatibility antigen HA-1				ENSP00000316772		17/23									COSM3403733,COSM3403734	17/23	.		ENST00000313093	Transcript			regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	ENSG00000180448	g.chr19:1080969C>T	17102			MODERATE		2.83	medium	getma.org/?cm=msa&ty=f&p=HMHA1_HUMAN&rb=1&re=709&var=A699V	NA	getma.org/?cm=var&var=hg19,19,1080969,C,T&fts=all	A699V	--	--	1																																		HMHA1_uc010xgd.1_Missense_Mutation_p.A715V|HMHA1_uc010xge.1_Missense_Mutation_p.A567V|HMHA1_uc002lra.1_Missense_Mutation_p.A539V|HMHA1_uc002lrb.1_Missense_Mutation_p.A582V|HMHA1_uc002lrc.1_Missense_Mutation_p.A334V|HMHA1_uc002lrd.1_5'Flank|HMHA1_uc010dsd.1_5'Flank	1,1			possibly_damaging(0.82)	p.A699V	NM_012292	NP_036424		deleterious(0)	1,1	HMHA1_HUMAN	HMHA1	HGNC	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	O78181_HUMAN		17	2327	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	UPI000008AF58	699					SNV	HMHA1,missense_variant,p.Ala699Val,ENST00000313093,NM_012292.3;HMHA1,missense_variant,p.Ala726Val,ENST00000590214,;HMHA1,missense_variant,p.Ala703Val,ENST00000586866,;HMHA1,missense_variant,p.Ala715Val,ENST00000539243,NM_001258328.1;HMHA1,missense_variant,p.Ala582Val,ENST00000543365,NM_001282335.1;HMHA1,missense_variant,p.Ala567Val,ENST00000536472,;HMHA1,missense_variant,p.Ala334Val,ENST00000590577,NM_001282334.1;HMHA1,upstream_gene_variant,,ENST00000591169,;HMHA1,upstream_gene_variant,,ENST00000590512,;HMHA1,3_prime_UTR_variant,,ENST00000587602,;HMHA1,upstream_gene_variant,,ENST00000592297,;HMHA1,upstream_gene_variant,,ENST00000586378,;HMHA1,upstream_gene_variant,,ENST00000586937,;HMHA1,downstream_gene_variant,,ENST00000591293,;	uc002lqz.1	c.2096C>T	2327/4264	2	2			c.2096C>T						19	SNP	c.(2095-2097)GCG>GTG	21	21			lung(1)	1	Broad	minor histocompatibility antigen HA-1			1080969		0.682	ENSG00000180448	7110	g.chr19:1080969C>T	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding							15.844847	KEEP	2	5	-1	9	5	2	5	-1	16.287235	9	5	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	T			HMHA1_uc010xgd.1_Missense_Mutation_p.A715V|HMHA1_uc010xge.1_Missense_Mutation_p.A567V|HMHA1_uc002lra.1_Missense_Mutation_p.A539V|HMHA1_uc002lrb.1_Missense_Mutation_p.A582V|HMHA1_uc002lrc.1_Missense_Mutation_p.A334V|HMHA1_uc002lrd.1_5'Flank|HMHA1_uc010dsd.1_5'Flank	240	GBM-32-2632-TP	p.A699V	C	CTGTCCAAGGCGGCCCGTACT	NM_012292	NP_036424	1080969	Q92619	HMHA1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	17	2327	+	T	T		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	Missense_Mutation	699						
HMOX1	3162	broad.mit.edu	GRCh37	22	35783113	35783113	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0129-01	TCGA-06-0129-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216117.8:c.580G>A	p.Ala194Thr	p.A194T	ENST00000216117	NM_002133.2	194	Gca/Aca	0			1			A	A/T	uc003ant.1	protein_coding	YES	CCDS13914.1			580/867									ovary(1)	1	c.(580-582)GCA>ACA			hmmpanther:PTHR10720,hmmpanther:PTHR10720:SF1,Pfam_domain:PF01126,Gene3D:1.20.910.10,PIRSF_domain:PIRSF000343,Superfamily_domains:SSF48613	heme oxygenase (decyclizing) 1	NADH(DB00157)			ENSP00000216117		5-Mar	2.47E-05			0.000352					rs775119762,COSM2149494	5-Mar	.		ENST00000216117	Transcript	1		angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity	ENSG00000100292	g.chr22:35783113G>A	5013			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=HMOX1_HUMAN&rb=11&re=216&var=A194T	getma.org/pdb.php?prot=HMOX1_HUMAN&from=11&to=216&var=A194T	getma.org/?cm=var&var=hg19,22,35783113,G,A&fts=all	A194T	--	--	1																																			0,1	1		benign(0.001)	p.A194T	NM_002133	NP_002124		deleterious(0.04)	0,1	HMOX1_HUMAN	HMOX1	HGNC	P09601	HMOX1_HUMAN			Q6FH11_HUMAN,D2K7W4_HUMAN,B1AHA8_HUMAN		3	660	+			UPI000012CAA8	194					SNV	HMOX1,missense_variant,p.Ala194Thr,ENST00000216117,NM_002133.2;HMOX1,downstream_gene_variant,,ENST00000412893,;HMOX1,non_coding_transcript_exon_variant,,ENST00000494998,;HMOX1,downstream_gene_variant,,ENST00000481190,;	uc003ant.1	c.580G>A	919/1822	2	2			c.580G>A						22	SNP	c.(580-582)GCA>ACA	18	18			ovary(1)	1	Broad	heme oxygenase (decyclizing) 1		NADH(DB00157)	35783113		0.622	ENSG00000100292	7113	g.chr22:35783113G>A	angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity							178.246367	KEEP	34	29	-1	31	39	34	29	-1	178.357698	31	39	0.467742	1	0	0	0	0	1	0	0	0	--	--		0	A				15	GBM-06-0129-TP	p.A194T	G	GATGACTCCCGCAGTCAGGCA	NM_002133	NP_002124	35783113	P09601	HMOX1_HUMAN	0			3	660	+	A	A			Missense_Mutation	194						
HMX3	0	broad.mit.edu	GRCh37	10	124896723	124896723	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-26-5136-01	TCGA-26-5136-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357878.5:c.550G>C	p.Glu184Gln	p.E184Q	ENST00000357878	NM_001105574.1	184	Gaa/Caa	0			1			C	E/Q	uc010quc.1	protein_coding	YES	CCDS41575.1			550/1074										0	c.(550-552)GAA>CAA			Low_complexity_(Seg):seg,hmmpanther:PTHR24325,hmmpanther:PTHR24325:SF19	H6 family homeobox 3				ENSP00000350549		2-Feb									COSM3396969	2-Feb	.		ENST00000357878	Transcript			cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity	ENSG00000188620	g.chr10:124896723G>C	5019			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=HMX3_HUMAN&rb=133&re=227&var=E184Q	NA	getma.org/?cm=var&var=hg19,10,124896723,G,C&fts=all	E184Q	--	--	1																																			1	1		probably_damaging(0.922)	p.E184Q	NM_001105574	NP_001099044		deleterious(0)	1	HMX3_HUMAN	HMX3	HGNC	A6NHT5	HMX3_HUMAN		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)			2	550	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	UPI000047C635	184					SNV	HMX3,missense_variant,p.Glu184Gln,ENST00000357878,NM_001105574.1;	uc010quc.1	c.550G>C	639/1173	3	3			c.550G>C						10	SNP	c.(550-552)GAA>CAA	16	16				0	Broad	H6 family homeobox 3			124896723		0.677	ENSG00000188620	7118	g.chr10:124896723G>C	cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity							5.242265	KEEP	1	1	-1	3	8	1	1	-1	6.506287	3	8	0.166667	1	0	0	0	0	1	0	0	0	--	--		0	C				185	GBM-26-5136-TP	p.E184Q	G	CGACTCCGAGGAAAGCAAAAA	NM_001105574	NP_001099044	124896723	A6NHT5	HMX3_HUMAN	0		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)	2	550	+	C	C		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	Missense_Mutation	184						
HNF1A	0	broad.mit.edu	GRCh37	12	121437175	121437175	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01	TCGA-76-4935-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257555.6:c.1606C>T	p.Leu536Phe	p.L536F	ENST00000257555		536	Ctc/Ttc	0			1			T	L/F	uc001tzg.2	protein_coding	YES	CCDS9209.1			1606/1896									liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1)	116	c.(1606-1608)CTC>TTC			hmmpanther:PTHR11568:SF4,hmmpanther:PTHR11568,Pfam_domain:PF04812	hepatic nuclear factor-1-alpha				ENSP00000257555		10-Aug									COSM3398442	10-Aug	.	Hepatic_Adenoma_Familial_Clustering_of	ENST00000257555	Transcript	1		glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	ENSG00000135100	g.chr12:121437175C>T	11621			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=HNF1A_HUMAN&rb=282&re=541&var=L536F	NA	getma.org/?cm=var&var=hg19,12,121437175,C,T&fts=all	L536F	--	--	1																																		HNF1A_uc010szn.1_Missense_Mutation_p.L536F	1	1		probably_damaging(0.999)	p.L536F	NM_000545	NP_000536		deleterious(0.01)	1		HNF1A	HGNC	P20823	HNF1A_HUMAN			E0YMJ2_HUMAN,E0YMJ1_HUMAN,B8YNW1_HUMAN,B8YNU9_HUMAN		8	1629	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		UPI000013CF6C	536					SNV	HNF1A,missense_variant,p.Leu536Phe,ENST00000257555,;HNF1A,missense_variant,p.Leu536Phe,ENST00000541395,NM_000545.5;HNF1A,missense_variant,p.Leu536Phe,ENST00000544413,;HNF1A,downstream_gene_variant,,ENST00000402929,;C12orf43,downstream_gene_variant,,ENST00000445832,NM_001286197.1,NM_001286191.1,NM_001286192.1;HNF1A,downstream_gene_variant,,ENST00000400024,;C12orf43,downstream_gene_variant,,ENST00000288757,NM_022895.1;HNF1A,downstream_gene_variant,,ENST00000543427,;C12orf43,downstream_gene_variant,,ENST00000366211,NM_001286198.1;C12orf43,downstream_gene_variant,,ENST00000537817,;C12orf43,downstream_gene_variant,,ENST00000539736,NM_001286195.1;C12orf43,downstream_gene_variant,,ENST00000546272,;C12orf43,downstream_gene_variant,,ENST00000536407,;C12orf43,downstream_gene_variant,,ENST00000535367,;C12orf43,downstream_gene_variant,,ENST00000538296,;HNF1A,downstream_gene_variant,,ENST00000538626,;HNF1A,downstream_gene_variant,,ENST00000535955,;RP11-216P16.2,downstream_gene_variant,,ENST00000606238,;HNF1A,3_prime_UTR_variant,,ENST00000540108,;HNF1A,3_prime_UTR_variant,,ENST00000560968,;C12orf43,downstream_gene_variant,,ENST00000502891,;HNF1A,downstream_gene_variant,,ENST00000538646,;HNF1A,downstream_gene_variant,,ENST00000541924,;HNF1A,downstream_gene_variant,,ENST00000543255,;HNF1A,downstream_gene_variant,,ENST00000544574,;C12orf43,downstream_gene_variant,,ENST00000539088,;	uc001tzg.2	c.1606C>T	1832/3442	1	1			c.1606C>T						12	SNP	c.(1606-1608)CTC>TTC	9	9			liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1)	116	Broad	hepatic nuclear factor-1-alpha			121437175	Hepatic_Adenoma_Familial_Clustering_of	0.672	ENSG00000135100	7121	g.chr12:121437175C>T	glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			239			239	242.868622	KEEP	40	46	-1	54	74	40	46	-1	243.639123	54	74	0.429379	1	0	0	0	0	1	0	0	0	--	--		0	T			HNF1A_uc010szn.1_Missense_Mutation_p.L536F	273	GBM-76-4935-TP	p.L536F	C	CCTGGCCAGCCTCACGCCCAC	NM_000545	NP_000536	121437175	P20823	HNF1A_HUMAN	0			8	1629	+	T	T	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		Missense_Mutation	536						
HNF1B	6928		GRCh37	17	36059152	36059152	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000225893.4:c.1583T>C	p.Phe528Ser	p.F528S	ENST00000225893	NM_001165923.1	528	tTt/tCt	0																																																																																																																																																																																																																																												
HNF4A	0	broad.mit.edu	GRCh37	20	43042366	43042366	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-12-3650-01	TCGA-12-3650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316099.4:c.418C>T	p.Arg140Ter	p.R140*	ENST00000316099	NM_001258355.1	140	Cga/Tga	0			1			T	R/*	uc002xma.2	protein_coding	YES	CCDS13330.1			418/1425									ovary(1)|lung(1)|skin(1)	3	c.(418-420)CGA>TGA			hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF41,Superfamily_domains:SSF48508,Superfamily_domains:SSF57716	hepatocyte nuclear factor 4 alpha isoform b				ENSP00000312987		10-Apr									COSM3405111,COSM3405113,COSM3405112	10-Apr	.		ENST00000316099	Transcript	1		blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	ENSG00000101076	g.chr20:43042366C>T	5024			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,20,43042366,C,T&fts=all	R140*	--	--	1																																		HNF4A_uc002xlt.2_Nonsense_Mutation_p.R118*|HNF4A_uc002xlu.2_Nonsense_Mutation_p.R118*|HNF4A_uc002xlv.2_Nonsense_Mutation_p.R118*|HNF4A_uc002xly.2_Nonsense_Mutation_p.R140*|HNF4A_uc002xlz.2_Nonsense_Mutation_p.R140*|HNF4A_uc010ggq.2_Nonsense_Mutation_p.R133*	1,1,1	1			p.R140*	NM_000457	NP_000448			1,1,1	HNF4A_HUMAN	HNF4A	HGNC	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		F1D8T1_HUMAN		4	507	+		Myeloproliferative disorder(115;0.0122)	UPI000016A0BA	140					SNV	HNF4A,stop_gained,p.Arg140Ter,ENST00000316099,NM_001258355.1,NM_178849.2,NM_000457.4,NM_001287183.1;HNF4A,stop_gained,p.Arg140Ter,ENST00000415691,;HNF4A,stop_gained,p.Arg140Ter,ENST00000443598,NM_178850.2;HNF4A,stop_gained,p.Arg118Ter,ENST00000316673,;HNF4A,stop_gained,p.Arg118Ter,ENST00000457232,NM_175914.4,NM_001030003.2;HNF4A,stop_gained,p.Arg118Ter,ENST00000609795,NM_001030004.2;HNF4A,3_prime_UTR_variant,,ENST00000372920,;	uc002xma.2	c.418C>T	507/4694	5	2			c.418C>T						20	SNP	c.(418-420)CGA>TGA	48	48			ovary(1)|lung(1)|skin(1)	3	Broad	hepatocyte nuclear factor 4 alpha isoform b			43042366		0.632	ENSG00000101076	7123	g.chr20:43042366C>T	blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	Colon(79;2 1269 8820 14841 52347)			Colon(79;2 1269 8820 14841 52347)			38.067752	KEEP	9	6	-1	9	13	9	6	-1	38.392674	9	13	0.393939	1	0	0	0	0	0	1	0	0	--	--		0	T			HNF4A_uc002xlt.2_Nonsense_Mutation_p.R118*|HNF4A_uc002xlu.2_Nonsense_Mutation_p.R118*|HNF4A_uc002xlv.2_Nonsense_Mutation_p.R118*|HNF4A_uc002xly.2_Nonsense_Mutation_p.R140*|HNF4A_uc002xlz.2_Nonsense_Mutation_p.R140*|HNF4A_uc010ggq.2_Nonsense_Mutation_p.R133*	126	GBM-12-3650-TP	p.R140*	C	GATCAGCACTCGAAGGTCAAG	NM_000457	NP_000448	43042366	P41235	HNF4A_HUMAN	0	COAD - Colon adenocarcinoma(18;0.00189)		4	507	+	T	T		Myeloproliferative disorder(115;0.0122)	Nonsense_Mutation	140						
HNF4A	0	broad.mit.edu	GRCh37	20	43052742	43052742	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316099.4:c.977G>A	p.Arg326His	p.R326H	ENST00000316099	NM_001258355.1	326	cGc/cAc	0			1			A	R/H	uc002xma.2	protein_coding	YES	CCDS13330.1			977/1425									ovary(1)|lung(1)|skin(1)	3	c.(976-978)CGC>CAC			Gene3D:1.10.565.10,Pfam_domain:PF00104,hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF41,SMART_domains:SM00430,Superfamily_domains:SSF48508	hepatocyte nuclear factor 4 alpha isoform b				ENSP00000312987		10-Aug	8.24E-06		8.93E-05						rs753027685,COSM3405117,COSM3405119,COSM3405118	10-Aug	.		ENST00000316099	Transcript	1		blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	ENSG00000101076	g.chr20:43052742G>A	5024			MODERATE		1.175	low	getma.org/?cm=msa&ty=f&p=HNF4A_HUMAN&rb=166&re=361&var=R326H	getma.org/pdb.php?prot=HNF4A_HUMAN&from=166&to=361&var=R326H	getma.org/?cm=var&var=hg19,20,43052742,G,A&fts=all	R326H	--	--	1																																		HNF4A_uc002xlt.2_Missense_Mutation_p.R304H|HNF4A_uc002xlu.2_Missense_Mutation_p.R304H|HNF4A_uc002xlv.2_Missense_Mutation_p.R304H|HNF4A_uc002xly.2_Missense_Mutation_p.R326H|HNF4A_uc002xlz.2_Missense_Mutation_p.R326H|HNF4A_uc010ggq.2_Missense_Mutation_p.R319H	0,1,1,1	1		probably_damaging(0.998)	p.R326H	NM_000457	NP_000448		deleterious(0.04)	0,1,1,1	HNF4A_HUMAN	HNF4A	HGNC	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		F1D8T1_HUMAN		8	1066	+		Myeloproliferative disorder(115;0.0122)	UPI000016A0BA	326					SNV	HNF4A,missense_variant,p.Arg326His,ENST00000316099,NM_001258355.1,NM_178849.2,NM_000457.4,NM_001287183.1;HNF4A,missense_variant,p.Arg326His,ENST00000415691,;HNF4A,missense_variant,p.Arg326His,ENST00000443598,NM_178850.2;HNF4A,missense_variant,p.Arg304His,ENST00000316673,;HNF4A,missense_variant,p.Arg304His,ENST00000457232,NM_175914.4,NM_001030003.2;HNF4A,missense_variant,p.Arg304His,ENST00000609795,NM_001030004.2;AL132772.1,downstream_gene_variant,,ENST00000581483,;HNF4A,3_prime_UTR_variant,,ENST00000372920,;	uc002xma.2	c.977G>A	1066/4694	1	1			c.977G>A						20	SNP	c.(976-978)CGC>CAC	54	54			ovary(1)|lung(1)|skin(1)	3	Broad	hepatocyte nuclear factor 4 alpha isoform b			43052742		0.582	ENSG00000101076	7123	g.chr20:43052742G>A	blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	Colon(79;2 1269 8820 14841 52347)			Colon(79;2 1269 8820 14841 52347)			20.390297	KEEP	7	4	-1	10	12	7	4	-1	21.247485	10	12	0.307692	1	0	0	0	0	1	0	0	0	--	--		0	A			HNF4A_uc002xlt.2_Missense_Mutation_p.R304H|HNF4A_uc002xlu.2_Missense_Mutation_p.R304H|HNF4A_uc002xlv.2_Missense_Mutation_p.R304H|HNF4A_uc002xly.2_Missense_Mutation_p.R326H|HNF4A_uc002xlz.2_Missense_Mutation_p.R326H|HNF4A_uc010ggq.2_Missense_Mutation_p.R319H	230	GBM-32-1979-TP	p.R326H	G	ATCAACGACCGCCAGTATGAC	NM_000457	NP_000448	43052742	P41235	HNF4A_HUMAN	0	COAD - Colon adenocarcinoma(18;0.00189)		8	1066	+	A	A		Myeloproliferative disorder(115;0.0122)	Missense_Mutation	326						
HNF4A	0	broad.mit.edu	GRCh37	20	43057004	43057004	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1986-01	TCGA-32-1986-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316099.4:c.1159C>T	p.His387Tyr	p.H387Y	ENST00000316099	NM_001258355.1	387	Cac/Tac	0			1			T	H/Y	uc002xma.2	protein_coding	YES	CCDS13330.1			1159/1425									ovary(1)|lung(1)|skin(1)	3	c.(1159-1161)CAC>TAC			hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF41,Low_complexity_(Seg):seg	hepatocyte nuclear factor 4 alpha isoform b				ENSP00000312987		10-Sep									COSM3405120,COSM3405121	10-Sep	.		ENST00000316099	Transcript	1		blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	ENSG00000101076	g.chr20:43057004C>T	5024			MODERATE		2.38	medium	getma.org/?cm=msa&ty=f&p=HNF4A_HUMAN&rb=362&re=397&var=H387Y	NA	getma.org/?cm=var&var=hg19,20,43057004,C,T&fts=all	H387Y	--	--	1																																		HNF4A_uc002xlu.2_Missense_Mutation_p.H365Y|HNF4A_uc002xlv.2_Missense_Mutation_p.H365Y|HNF4A_uc002xlz.2_Missense_Mutation_p.H387Y|HNF4A_uc010ggq.2_Missense_Mutation_p.H380Y	1,1	1		possibly_damaging(0.608)	p.H387Y	NM_000457	NP_000448		deleterious(0.01)	1,1	HNF4A_HUMAN	HNF4A	HGNC	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		F1D8T1_HUMAN		9	1248	+		Myeloproliferative disorder(115;0.0122)	UPI000016A0BA	387					SNV	HNF4A,missense_variant,p.His387Tyr,ENST00000316099,NM_001258355.1,NM_178849.2,NM_000457.4,NM_001287183.1;HNF4A,missense_variant,p.His387Tyr,ENST00000415691,;HNF4A,missense_variant,p.His365Tyr,ENST00000316673,;HNF4A,missense_variant,p.His365Tyr,ENST00000457232,NM_175914.4,NM_001030003.2;HNF4A,downstream_gene_variant,,ENST00000443598,NM_178850.2;HNF4A,downstream_gene_variant,,ENST00000609795,NM_001030004.2;AL132772.1,upstream_gene_variant,,ENST00000581483,;HNF4A,3_prime_UTR_variant,,ENST00000372920,;	uc002xma.2	c.1159C>T	1248/4694	2	2			c.1159C>T						20	SNP	c.(1159-1161)CAC>TAC	17	17			ovary(1)|lung(1)|skin(1)	3	Broad	hepatocyte nuclear factor 4 alpha isoform b			43057004		0.587	ENSG00000101076	7123	g.chr20:43057004C>T	blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	Colon(79;2 1269 8820 14841 52347)			Colon(79;2 1269 8820 14841 52347)			58.435812	KEEP	14	13	-1	41	62	14	13	-1	66.504943	41	62	0.221239	1	0	0	0	0	1	0	0	0	--	--		0	T			HNF4A_uc002xlu.2_Missense_Mutation_p.H365Y|HNF4A_uc002xlv.2_Missense_Mutation_p.H365Y|HNF4A_uc002xlz.2_Missense_Mutation_p.H387Y|HNF4A_uc010ggq.2_Missense_Mutation_p.H380Y	233	GBM-32-1986-TP	p.H387Y	C	CCATGCCCACCACCCCCTGCA	NM_000457	NP_000448	43057004	P41235	HNF4A_HUMAN	0	COAD - Colon adenocarcinoma(18;0.00189)		9	1248	+	T	T		Myeloproliferative disorder(115;0.0122)	Missense_Mutation	387						
HNF4A	3172		GRCh37	20	43034798	43034798	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000316099.4:c.216C>T	p.Tyr72=	p.Y72=	ENST00000316099	NM_001258355.1	72	taC/taT	0																																																																																																																																																																																																																																												
HNRNPA2B1	3181	broad.mit.edu	GRCh37	7	26236176	26236178	+	splice_donor_variant,coding_sequence_variant	Splice_Site	DEL	CCT	CCT	-			TCGA-06-0155-01	TCGA-06-0155-01	CCT	CCT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354667.4:c.612_613+1del		p.X204_splice	ENST00000354667	NM_031243.2	204		0			1			-		uc003sxr.3	protein_coding	YES	CCDS43557.1			612-?/1062	T		ETV1		prostate				ovary(1)|central_nervous_system(1)|skin(1)	3	c.e6+1				heterogeneous nuclear ribonucleoprotein A2/B1				ENSP00000346694		12-Jun									COSM2149987,COSM2149986	12-Jun	.		ENST00000354667	Transcript	1		RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding	ENSG00000122566	g.chr7:26236176_26236178delCCT	5033			HIGH	11-Jun							--	--	1																																		HNRNPA2B1_uc003sxs.3_Splice_Site_p.G193_splice	1,1	1			p.G205_splice	NM_031243	NP_112533			1,1	ROA2_HUMAN	HNRNPA2B1	HGNC	P22626	ROA2_HUMAN					6	829	-			UPI000002F091						deletion	HNRNPA2B1,splice_donor_variant,,ENST00000354667,NM_031243.2;HNRNPA2B1,splice_donor_variant,,ENST00000356674,NM_002137.3;CBX3,upstream_gene_variant,,ENST00000337620,NM_007276.4;HNRNPA2B1,upstream_gene_variant,,ENST00000476233,;HNRNPA2B1,splice_donor_variant,,ENST00000463181,;HNRNPA2B1,splice_donor_variant,,ENST00000490912,;HNRNPA2B1,splice_donor_variant,,ENST00000360787,;HNRNPA2B1,splice_donor_variant,,ENST00000495810,;	uc003sxr.3	c.613_splice	781-?/3664	5	5			c.613_splice	T		ETV1		prostate	7	DEL	c.e6+1	41	41			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	heterogeneous nuclear ribonucleoprotein A2/B1			26236178		0.379	ENSG00000122566	7129	g.chr7:26236176_26236178delCCT	RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding			717			717														0.23	1	1	0	1	0	0	0	0	1	--	--		0	-			HNRNPA2B1_uc003sxs.3_Splice_Site_p.G193_splice	27	GBM-06-0155-TP	p.G205_splice	CCT	ATTAAAATTACCTCCTCTTCCAC	NM_031243	NP_112533	26236176	P22626	ROA2_HUMAN	0			6	829	-	-	-			Splice_Site							
HNRNPCL1	343069	broad.mit.edu	GRCh37	1	12907709	12907709	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs4026148		TCGA-02-2486-01	TCGA-02-2486-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317869.6:c.434G>A	p.Arg145His	p.R145H	ENST00000317869	NM_001013631.1	145	cGt/cAt	0		A:0	1	A:0.0014		T	R/H	uc009vno.2	protein_coding	YES	CCDS30591.1			434/882										0	c.(433-435)CGC>CAC			hmmpanther:PTHR13968:SF17,hmmpanther:PTHR13968,PIRSF_domain:PIRSF037992	heterogeneous nuclear ribonucleoprotein C-like		A:0		ENSP00000365370	A:0	2-Feb									rs4026148,COSM894927	2-Feb	.		ENST00000317869	Transcript		A:0.0002			nucleic acid binding|nucleotide binding	ENSG00000179172	g.chr1:12907709C>T	29295			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=HNRCL_HUMAN&rb=82&re=281&var=R145H	NA	getma.org/?cm=var&var=hg19,1,12907709,C,T&fts=all	R145H	--	--	1																																		HNRNPCL1_uc010obf.1_Missense_Mutation_p.R145H	0,1	1		benign(0.013)	p.R145H	NM_001146181	NP_001139653	A:0	tolerated(0.11)	0,1	HNRCL_HUMAN	HNRNPCL1	HGNC	B7ZW38	B7ZW38_HUMAN					1	529	-			UPI0000134525	145					SNV	HNRNPCL1,missense_variant,p.Arg145His,ENST00000317869,NM_001013631.1,NM_001136561.2,NM_001146181.1;	uc009vno.2	c.434G>A	660/1108	1	1			c.434G>A						1	SNP	c.(433-435)CGC>CAC	13	13				0	Broad	heterogeneous nuclear ribonucleoprotein C-like			12907709		0.483	ENSG00000179172	8720	g.chr1:12907709C>T			nucleic acid binding|nucleotide binding							301.429575	KEEP	56	67	-1	91	121	56	67	-1	306.529498	91	121	0.358621	1	0	0	0	0	1	0	0	0	--	--		0	T			HNRNPCL1_uc010obf.1_Missense_Mutation_p.R145H	8	GBM-02-2486-TP	p.R145H	C	TAGACGTTGACGTTTCGAGGG	NM_001146181	NP_001139653	12907709	B7ZW38	B7ZW38_HUMAN	0			1	529	-	T	T			Missense_Mutation	145						
HNRNPCL1	343069	broad.mit.edu	GRCh37	1	12907886	12907886	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317869.6:c.257C>T	p.Ala86Val	p.A86V	ENST00000317869	NM_001013631.1	86	gCa/gTa	0			1			A	A/V	uc009vno.2	protein_coding	YES	CCDS30591.1			257/882										0	c.(256-258)GCA>GTA			PROSITE_profiles:PS50102,hmmpanther:PTHR13968:SF17,hmmpanther:PTHR13968,Gene3D:3.30.70.330,PIRSF_domain:PIRSF037992,Superfamily_domains:SSF54928	heterogeneous nuclear ribonucleoprotein C-like				ENSP00000365370		2-Feb									COSM2229389	2-Feb	.		ENST00000317869	Transcript					nucleic acid binding|nucleotide binding	ENSG00000179172	g.chr1:12907886G>A	29295			MODERATE		0.205	neutral	getma.org/?cm=msa&ty=f&p=HNRCL_HUMAN&rb=16&re=87&var=A86V	getma.org/pdb.php?prot=HNRCL_HUMAN&from=16&to=87&var=A86V	getma.org/?cm=var&var=hg19,1,12907886,G,A&fts=all	A86V	--	--	1																																		HNRNPCL1_uc010obf.1_Missense_Mutation_p.A86V	1	1		benign(0.082)	p.A86V	NM_001146181	NP_001139653		tolerated(0.11)	1	HNRCL_HUMAN	HNRNPCL1	HGNC	B7ZW38	B7ZW38_HUMAN					1	352	-			UPI0000134525	86					SNV	HNRNPCL1,missense_variant,p.Ala86Val,ENST00000317869,NM_001013631.1,NM_001136561.2,NM_001146181.1;	uc009vno.2	c.257C>T	483/1108	2	2			c.257C>T						1	SNP	c.(256-258)GCA>GTA	43	43				0	Broad	heterogeneous nuclear ribonucleoprotein C-like			12907886		0.488	ENSG00000179172	8720	g.chr1:12907886G>A			nucleic acid binding|nucleotide binding							79.616782	KEEP	21	28	-1	115	129	21	28	-1	104.641836	115	129	0.175299	1	0	0	0	0	1	0	0	0	--	--		0	A			HNRNPCL1_uc010obf.1_Missense_Mutation_p.A86V	8	GBM-02-2486-TP	p.A86V	G	TTTTGGCTCTGCAGCCAGGTT	NM_001146181	NP_001139653	12907886	B7ZW38	B7ZW38_HUMAN	0			1	352	-	A	A			Missense_Mutation	86						
HNRNPCL1	0	broad.mit.edu	GRCh37	1	12907821	12907821	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-27-2518-01	TCGA-27-2518-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317869.6:c.322T>A	p.Ser108Thr	p.S108T	ENST00000317869	NM_001013631.1	108	Tct/Act	0			1			T	S/T	uc009vno.2	protein_coding	YES	CCDS30591.1			322/882										0	c.(322-324)TCT>ACT			hmmpanther:PTHR13968:SF17,hmmpanther:PTHR13968,PIRSF_domain:PIRSF037992	heterogeneous nuclear ribonucleoprotein C-like				ENSP00000365370		2-Feb									COSM3399634	2-Feb	.		ENST00000317869	Transcript					nucleic acid binding|nucleotide binding	ENSG00000179172	g.chr1:12907821A>T	29295			MODERATE		1.9	low	getma.org/?cm=msa&ty=f&p=HNRCL_HUMAN&rb=82&re=281&var=S108T	NA	getma.org/?cm=var&var=hg19,1,12907821,A,T&fts=all	S108T	--	--	1																																		HNRNPCL1_uc010obf.1_Missense_Mutation_p.S108T	1	1		benign(0.035)	p.S108T	NM_001146181	NP_001139653		tolerated(0.23)	1	HNRCL_HUMAN	HNRNPCL1	HGNC	B7ZW38	B7ZW38_HUMAN					1	417	-			UPI0000134525	108					SNV	HNRNPCL1,missense_variant,p.Ser108Thr,ENST00000317869,NM_001013631.1,NM_001136561.2,NM_001146181.1;	uc009vno.2	c.322T>A	548/1108	2	2			c.322T>A						1	SNP	c.(322-324)TCT>ACT	44	44				0	Broad	heterogeneous nuclear ribonucleoprotein C-like			12907821		0.493	ENSG00000179172	8720	g.chr1:12907821A>T			nucleic acid binding|nucleotide binding							53.954169	KEEP	14	18	-1	78	67	14	18	-1	66.278966	78	67	0.192857	1	0	0	0	0	1	0	0	0	--	--		0	T			HNRNPCL1_uc010obf.1_Missense_Mutation_p.S108T	198	GBM-27-2518-TP	p.S108T	A	AAGTCAAAAGAGGAGCCGTAC	NM_001146181	NP_001139653	12907821	B7ZW38	B7ZW38_HUMAN	0			1	417	-	T	T			Missense_Mutation	108						
HNRNPCP5			GRCh37	1	13183578	13183578	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000449855.2:n.538C>T		p.*180*	ENST00000449855				0																																																																																																																																																																																																																																												
HNRNPDL	9987		GRCh37	4	83348672	83348672	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000295470.5:c.820A>G	p.Arg274Gly	p.R274G	ENST00000295470	NM_001207000.1	274	Aga/Gga	0																																																																																																																																																																																																																																												
HNRNPF	0	broad.mit.edu	GRCh37	10	43882701	43882701	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-5209-01	TCGA-28-5209-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337970.3:c.632A>G	p.Asp211Gly	p.D211G	ENST00000337970	NM_004966.3	211	gAc/gGc	0			1			C	D/G	uc009xmh.1	protein_coding		CCDS7204.1			632/1248										0	c.(631-633)GAC>GGC			hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF32	heterogeneous nuclear ribonucleoprotein F				ENSP00000338477		4-Apr									COSM3397126,COSM3397125	4-Apr	.		ENST00000337970	Transcript			regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	ENSG00000169813	g.chr10:43882701T>C	5039			MODERATE		2.285	medium	getma.org/?cm=msa&ty=f&p=HNRPF_HUMAN&rb=183&re=254&var=D211G	NA	getma.org/?cm=var&var=hg19,10,43882701,T,C&fts=all	D211G	--	--	1																																		HNRNPF_uc001jar.2_Missense_Mutation_p.D211G|HNRNPF_uc001jas.2_Missense_Mutation_p.D211G|HNRNPF_uc001jat.2_Missense_Mutation_p.D211G|HNRNPF_uc001jav.2_Missense_Mutation_p.D211G|HNRNPF_uc001jau.2_Missense_Mutation_p.D211G|uc010qfa.1_Missense_Mutation_p.V128A	1,1			probably_damaging(0.988)	p.D211G	NM_001098208	NP_001091678		deleterious(0)	1,1	HNRPF_HUMAN	HNRNPF	HGNC	P52597	HNRPF_HUMAN			Q8NI96_HUMAN,B4DKS8_HUMAN		3	1119	-			UPI0000000C5C	211					SNV	HNRNPF,missense_variant,p.Asp211Gly,ENST00000443950,NM_001098208.1;HNRNPF,missense_variant,p.Asp211Gly,ENST00000544000,NM_001098207.1;HNRNPF,missense_variant,p.Asp211Gly,ENST00000356053,NM_001098205.1;HNRNPF,missense_variant,p.Asp211Gly,ENST00000357065,NM_001098206.1,NM_001098204.1;HNRNPF,missense_variant,p.Asp211Gly,ENST00000337970,NM_004966.3;HNRNPF,downstream_gene_variant,,ENST00000498176,;HNRNPF,downstream_gene_variant,,ENST00000477108,;	uc009xmh.1	c.632A>G	955/2186	4	4			c.632A>G						10	SNP	c.(631-633)GAC>GGC	33	33				0	Broad	heterogeneous nuclear ribonucleoprotein F			43882701		0.592	ENSG00000169813	7135	g.chr10:43882701T>C	regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding							-9.732338	KEEP	2	1	-1	36	47	2	1	-1	7.363192	36	47	0.04	1	0	0	0	0	1	0	0	0	--	--		0	C			HNRNPF_uc001jar.2_Missense_Mutation_p.D211G|HNRNPF_uc001jas.2_Missense_Mutation_p.D211G|HNRNPF_uc001jat.2_Missense_Mutation_p.D211G|HNRNPF_uc001jav.2_Missense_Mutation_p.D211G|HNRNPF_uc001jau.2_Missense_Mutation_p.D211G|uc010qfa.1_Missense_Mutation_p.V128A	218	GBM-28-5209-TP	p.D211G	T	CCCGGGCCGGTCATAGGGCCC	NM_001098208	NP_001091678	43882701	P52597	HNRPF_HUMAN	0			3	1119	-	C	C			Missense_Mutation	211						
HNRNPH2	3188		GRCh37	X	100667805	100667805	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000316594.5:c.829G>A	p.Gly277Arg	p.G277R	ENST00000316594	NM_001199974.1	277	Gga/Aga	0																																																																																																																																																																																																																																												
HNRNPH3	3189	broad.mit.edu	GRCh37	10	70097039	70097039	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265866.7:c.61C>T	p.Arg21Cys	p.R21C	ENST00000265866	NM_012207.2	21	Cgt/Tgt	0			1			T	R/C	uc001jnw.3	protein_coding	YES	CCDS7278.1			61/1041									ovary(2)	2	c.(61-63)CGT>TGT			Gene3D:3.30.70.330,Pfam_domain:PF14259,PROSITE_profiles:PS50102,hmmpanther:PTHR13976,SMART_domains:SM00360,Superfamily_domains:SSF54928	heterogeneous nuclear ribonucleoprotein H3				ENSP00000265866		10-Feb									COSM3397211	10-Feb	.		ENST00000265866	Transcript			nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding	ENSG00000096746	g.chr10:70097039C>T	5043			MODERATE		3.075	medium	getma.org/?cm=msa&ty=f&p=HNRH3_HUMAN&rb=18&re=87&var=R21C	getma.org/pdb.php?prot=HNRH3_HUMAN&from=18&to=87&var=R21C	getma.org/?cm=var&var=hg19,10,70097039,C,T&fts=all	R21C	--	--	1																																		HNRNPH3_uc001jnx.3_Missense_Mutation_p.R21C|HNRNPH3_uc009xpu.2_5'UTR|HNRNPH3_uc010qiv.1_Missense_Mutation_p.R21C|HNRNPH3_uc001jny.3_5'Flank	1	1		unknown(0)	p.R21C	NM_012207	NP_036339		deleterious(0)	1	HNRH3_HUMAN	HNRNPH3	HGNC	P31942	HNRH3_HUMAN					2	290	+			UPI0000134539	21			RRM 1.		SNV	HNRNPH3,missense_variant,p.Arg21Cys,ENST00000265866,NM_012207.2,NM_021644.3;HNRNPH3,missense_variant,p.Arg21Cys,ENST00000354695,;HNRNPH3,missense_variant,p.Arg21Cys,ENST00000441000,;PBLD,upstream_gene_variant,,ENST00000358769,NM_022129.3;PBLD,upstream_gene_variant,,ENST00000309049,;PBLD,upstream_gene_variant,,ENST00000495025,;PBLD,upstream_gene_variant,,ENST00000432941,NM_001033083.1;RUFY2,downstream_gene_variant,,ENST00000463210,;HNRNPH3,non_coding_transcript_exon_variant,,ENST00000469172,;HNRNPH3,non_coding_transcript_exon_variant,,ENST00000481819,;HNRNPH3,non_coding_transcript_exon_variant,,ENST00000480987,;HNRNPH3,non_coding_transcript_exon_variant,,ENST00000461310,;HNRNPH3,non_coding_transcript_exon_variant,,ENST00000486854,;HNRNPH3,non_coding_transcript_exon_variant,,ENST00000467249,;HNRNPH3,upstream_gene_variant,,ENST00000491200,;HNRNPH3,upstream_gene_variant,,ENST00000490442,;HNRNPH3,upstream_gene_variant,,ENST00000478698,;RUFY2,downstream_gene_variant,,ENST00000484083,;RUFY2,downstream_gene_variant,,ENST00000466493,;	uc001jnw.3	c.61C>T	226/2339	1	1			c.61C>T						10	SNP	c.(61-63)CGT>TGT	14	14			ovary(2)	2	Broad	heterogeneous nuclear ribonucleoprotein H3			70097039		0.338	ENSG00000096746	7138	g.chr10:70097039C>T	nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding							360.74131	KEEP	54	73	-1	15	31	54	73	-1	368.999345	15	31	0.755396	1	0	0	0	0	1	0	0	0	--	--		0	T			HNRNPH3_uc001jnx.3_Missense_Mutation_p.R21C|HNRNPH3_uc009xpu.2_5'UTR|HNRNPH3_uc010qiv.1_Missense_Mutation_p.R21C|HNRNPH3_uc001jny.3_5'Flank	102	GBM-06-5858-TP	p.R21C	C	AGTACGACTTCGTGGACTACC	NM_012207	NP_036339	70097039	P31942	HNRH3_HUMAN	0			2	290	+	T	T			Missense_Mutation	21			RRM 1.			
HNRNPL	3191	broad.mit.edu	GRCh37	19	39330868	39330868	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-06-0650-01	TCGA-06-0650-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221419.5:c.1101A>C	p.Pro367=	p.P367=	ENST00000221419	NM_001533.2	367	ccA/ccC	0			1			G	P	uc010xul.1	protein_coding	YES	CCDS33015.1			1101/1770										0	c.(1099-1101)CCA>CCC			hmmpanther:PTHR11546,hmmpanther:PTHR11546:SF19,Low_complexity_(Seg):seg,Superfamily_domains:SSF54928,TIGRFAM_domain:TIGR01649	heterogeneous nuclear ribonucleoprotein L				ENSP00000221419		13-Aug	0.0132	0.126	0.28	0.223	0.00926	0.128	0.1	0.362	rs757247424,COSM302383,COSM302384	13-Aug	common_variant		ENST00000221419	Transcript			nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	ENSG00000104824	g.chr19:39330868T>G	5045			LOW								--	--	1																																		HNRNPL_uc010ege.1_Silent_p.P23P|HNRNPL_uc002ojj.1_Silent_p.P23P|HNRNPL_uc002ojo.1_5'Flank|HNRNPL_uc002ojk.2_Silent_p.P23P|HNRNPL_uc002ojl.2_Silent_p.P23P|HNRNPL_uc010xum.1_Silent_p.P234P|HNRNPL_uc002ojp.1_Silent_p.P23P|HNRNPL_uc010xun.1_Missense_Mutation_p.H75P	0,1,1	1			p.P367P	NM_001533	NP_001524			0,1,1	HNRPL_HUMAN	HNRNPL	HGNC	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		Q6NTA2_HUMAN		8	1112	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		UPI00004432FA	367			Pro-rich.		SNV	HNRNPL,synonymous_variant,p.=,ENST00000221419,NM_001533.2;HNRNPL,synonymous_variant,p.=,ENST00000601449,;HNRNPL,synonymous_variant,p.=,ENST00000600873,NM_001005335.1;AC104534.3,upstream_gene_variant,,ENST00000594769,;HNRNPL,downstream_gene_variant,,ENST00000600233,;HNRNPL,downstream_gene_variant,,ENST00000601813,;AC104534.3,upstream_gene_variant,,ENST00000602021,;AC008982.2,downstream_gene_variant,,ENST00000600473,;HNRNPL,3_prime_UTR_variant,,ENST00000388749,;HNRNPL,non_coding_transcript_exon_variant,,ENST00000597731,;HNRNPL,non_coding_transcript_exon_variant,,ENST00000595164,;HNRNPL,upstream_gene_variant,,ENST00000595443,;HNRNPL,downstream_gene_variant,,ENST00000601047,;HNRNPL,downstream_gene_variant,,ENST00000598985,;HNRNPL,upstream_gene_variant,,ENST00000595804,;HNRNPL,upstream_gene_variant,,ENST00000601664,;	uc010xul.1	c.1101A>C	1468/2471	3	3			c.1101A>C						19	SNP	c.(1099-1101)CCA>CCC	16	16				0	Broad	heterogeneous nuclear ribonucleoprotein L			39330868		0.642	ENSG00000104824	7140	g.chr19:39330868T>G	nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding							6.584833	KEEP	5	2	-1	7	3	5	2	-1	6.769272	7	3	0.363636	1	0	0	0	0	0	0	1	0	--	--		0	G			HNRNPL_uc010ege.1_Silent_p.P23P|HNRNPL_uc002ojj.1_Silent_p.P23P|HNRNPL_uc002ojo.1_5'Flank|HNRNPL_uc002ojk.2_Silent_p.P23P|HNRNPL_uc002ojl.2_Silent_p.P23P|HNRNPL_uc010xum.1_Silent_p.P234P|HNRNPL_uc002ojp.1_Silent_p.P23P|HNRNPL_uc010xun.1_Missense_Mutation_p.H75P	63	GBM-06-0650-TP	p.P367P	T	GGGGAGGGGGTGGGGGGTGCC	NM_001533	NP_001524	39330868	P14866	HNRPL_HUMAN	0	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		8	1112	-	G	G	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Silent	367			Pro-rich.			
HNRNPL	0	broad.mit.edu	GRCh37	19	39330868	39330868	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-12-0821-01	TCGA-12-0821-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221419.5:c.1101A>C	p.Pro367=	p.P367=	ENST00000221419	NM_001533.2	367	ccA/ccC	0			1			G	P	uc010xul.1	protein_coding	YES	CCDS33015.1			1101/1770										0	c.(1099-1101)CCA>CCC			hmmpanther:PTHR11546,hmmpanther:PTHR11546:SF19,Low_complexity_(Seg):seg,Superfamily_domains:SSF54928,TIGRFAM_domain:TIGR01649	heterogeneous nuclear ribonucleoprotein L				ENSP00000221419		13-Aug	0.0132	0.126	0.28	0.223	0.00926	0.128	0.1	0.362	rs757247424,COSM302383,COSM302384	13-Aug	common_variant		ENST00000221419	Transcript			nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	ENSG00000104824	g.chr19:39330868T>G	5045			LOW								--	--	1																																		HNRNPL_uc010ege.1_Silent_p.P23P|HNRNPL_uc002ojj.1_Silent_p.P23P|HNRNPL_uc002ojo.1_5'Flank|HNRNPL_uc002ojk.2_Silent_p.P23P|HNRNPL_uc002ojl.2_Silent_p.P23P|HNRNPL_uc010xum.1_Silent_p.P234P|HNRNPL_uc002ojp.1_Silent_p.P23P|HNRNPL_uc010xun.1_Missense_Mutation_p.H75P	0,1,1	1			p.P367P	NM_001533	NP_001524			0,1,1	HNRPL_HUMAN	HNRNPL	HGNC	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		Q6NTA2_HUMAN		8	1112	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		UPI00004432FA	367			Pro-rich.		SNV	HNRNPL,synonymous_variant,p.=,ENST00000221419,NM_001533.2;HNRNPL,synonymous_variant,p.=,ENST00000601449,;HNRNPL,synonymous_variant,p.=,ENST00000600873,NM_001005335.1;AC104534.3,upstream_gene_variant,,ENST00000594769,;HNRNPL,downstream_gene_variant,,ENST00000600233,;HNRNPL,downstream_gene_variant,,ENST00000601813,;AC104534.3,upstream_gene_variant,,ENST00000602021,;AC008982.2,downstream_gene_variant,,ENST00000600473,;HNRNPL,3_prime_UTR_variant,,ENST00000388749,;HNRNPL,non_coding_transcript_exon_variant,,ENST00000597731,;HNRNPL,non_coding_transcript_exon_variant,,ENST00000595164,;HNRNPL,upstream_gene_variant,,ENST00000595443,;HNRNPL,downstream_gene_variant,,ENST00000601047,;HNRNPL,downstream_gene_variant,,ENST00000598985,;HNRNPL,upstream_gene_variant,,ENST00000595804,;HNRNPL,upstream_gene_variant,,ENST00000601664,;	uc010xul.1	c.1101A>C	1468/2471	3	3			c.1101A>C						19	SNP	c.(1099-1101)CCA>CCC	16	16				0	Broad	heterogeneous nuclear ribonucleoprotein L			39330868		0.642	ENSG00000104824	7140	g.chr19:39330868T>G	nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding							16.155778	KEEP	22	4	-1	26	5	22	4	-1	16.825168	26	5	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	G			HNRNPL_uc010ege.1_Silent_p.P23P|HNRNPL_uc002ojj.1_Silent_p.P23P|HNRNPL_uc002ojo.1_5'Flank|HNRNPL_uc002ojk.2_Silent_p.P23P|HNRNPL_uc002ojl.2_Silent_p.P23P|HNRNPL_uc010xum.1_Silent_p.P234P|HNRNPL_uc002ojp.1_Silent_p.P23P|HNRNPL_uc010xun.1_Missense_Mutation_p.H75P	123	GBM-12-0821-TP	p.P367P	T	GGGGAGGGGGTGGGGGGTGCC	NM_001533	NP_001524	39330868	P14866	HNRPL_HUMAN	0	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		8	1112	-	G	G	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Silent	367			Pro-rich.			
HNRNPLL	92906	broad.mit.edu	GRCh37	2	38812883	38812883	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0650-01	TCGA-06-0650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409636.1:c.434del	p.Ser145ThrfsTer88	p.S145Tfs*88	ENST00000409636		145	aGc/ac	0			1			-	S/X	uc002rqw.2	protein_coding		CCDS1796.2			449/1629									skin(1)	1	c.(448-450)AGCfs			PROSITE_profiles:PS50102,hmmpanther:PTHR11546,hmmpanther:PTHR11546:SF15,Gene3D:3.30.70.330,TIGRFAM_domain:TIGR01649,Superfamily_domains:SSF54928	heterogeneous nuclear ribonucleoprotein L-like				ENSP00000390625		13-Mar										13-Mar	.		ENST00000449105	Transcript			mRNA processing|positive regulation of RNA splicing	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	ENSG00000143889	g.chr2:38812883delC	25127			HIGH								--	--	1																																		HNRPLL_uc002rqx.2_Frame_Shift_Del_p.S145fs					p.S150fs	NM_138394	NP_612403					HNRNPLL	HGNC	Q8WVV9	HNRLL_HUMAN					3	859	-		all_hematologic(82;0.248)	UPI0000073754	150			RRM 1.		deletion	HNRNPLL,frameshift_variant,p.Ser150ThrfsTer88,ENST00000449105,;HNRNPLL,frameshift_variant,p.Ser145ThrfsTer88,ENST00000409636,;HNRNPLL,frameshift_variant,p.Ser150ThrfsTer88,ENST00000608859,NM_138394.3,NM_001142650.1;HNRNPLL,frameshift_variant,p.Ser150ThrfsTer64,ENST00000378915,;HNRNPLL,frameshift_variant,p.Ser150ThrfsTer64,ENST00000409328,;HNRNPLL,frameshift_variant,p.Ser145ThrfsTer88,ENST00000410076,;HNRNPLL,frameshift_variant,p.Ser150ThrfsTer88,ENST00000358367,;HNRNPLL,frameshift_variant,p.Ser89ThrfsTer?,ENST00000425682,;HNRNPLL,frameshift_variant,p.Ser85ThrfsTer88,ENST00000272249,;HNRNPLL,non_coding_transcript_exon_variant,,ENST00000488099,;	uc002rqw.2	c.449delG	789/4173	5	5			c.449delG						2	DEL	c.(448-450)AGCfs	15	15			skin(1)	1	Broad	heterogeneous nuclear ribonucleoprotein L-like			38812883		0.408	ENSG00000143889	7147	g.chr2:38812883delC	mRNA processing|positive regulation of RNA splicing	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding																				0.1	1	1	0	1	0	0	0	0	0	--	--		0	-			HNRPLL_uc002rqx.2_Frame_Shift_Del_p.S145fs	63	GBM-06-0650-TP	p.S150fs	C	GATCCTTTTGCTTGTAGAATA	NM_138394	NP_612403	38812883	Q8WVV9	HNRLL_HUMAN	0			3	859	-	-	-		all_hematologic(82;0.248)	Frame_Shift_Del	150			RRM 1.			
HNRNPR	0	broad.mit.edu	GRCh37	1	23648083	23648083	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-12-5295-01	TCGA-12-5295-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302271.6:c.749T>G	p.Val250Gly	p.V250G	ENST00000302271		250	gTt/gGt	0			1			C	V/G	uc001bgr.3	protein_coding		CCDS232.1			749/1902									upper_aerodigestive_tract(1)|skin(1)	2	c.(748-750)GTT>GGT			PROSITE_profiles:PS50102,hmmpanther:PTHR24011:SF131,hmmpanther:PTHR24011,Gene3D:3.30.70.330,Pfam_domain:PF00076,TIGRFAM_domain:TIGR01648,SMART_domains:SM00360,Superfamily_domains:SSF54928	heterogeneous nuclear ribonucleoprotein R				ENSP00000304405		11-Jul									COSM3400482,COSM3400481	11-Jul	.		ENST00000302271	Transcript				catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	ENSG00000125944	g.chr1:23648083A>C	5047			MODERATE		4.22	high	getma.org/?cm=msa&ty=f&p=HNRPR_HUMAN&rb=248&re=315&var=V250G	getma.org/pdb.php?prot=HNRPR_HUMAN&from=248&to=315&var=V250G	getma.org/?cm=var&var=hg19,1,23648083,A,C&fts=all	V250G	--	--	1																																		HNRNPR_uc001bgp.3_Missense_Mutation_p.V250G|HNRNPR_uc009vqk.2_Missense_Mutation_p.V149G|HNRNPR_uc001bgs.3_Missense_Mutation_p.V149G|HNRNPR_uc010odw.1_Missense_Mutation_p.V212G|HNRNPR_uc010odx.1_Missense_Mutation_p.V90G|HNRNPR_uc009vql.2_Missense_Mutation_p.V111G	1,1			probably_damaging(0.992)	p.V250G	NM_005826	NP_005817		deleterious(0)	1,1	HNRPR_HUMAN	HNRNPR	HGNC	O43390	HNRPR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	Q7Z334_HUMAN		7	908	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	UPI000013454C	250			RRM 2.		SNV	HNRNPR,missense_variant,p.Val149Gly,ENST00000478691,NM_001102399.1,NM_001102397.1;HNRNPR,missense_variant,p.Val250Gly,ENST00000374612,NM_005826.3,NM_001102398.1;HNRNPR,missense_variant,p.Val250Gly,ENST00000374616,;HNRNPR,missense_variant,p.Val250Gly,ENST00000302271,;HNRNPR,missense_variant,p.Val212Gly,ENST00000427764,;HNRNPR,missense_variant,p.Val111Gly,ENST00000606561,;HNRNPR,missense_variant,p.Val90Gly,ENST00000426846,;HNRNPR,non_coding_transcript_exon_variant,,ENST00000463552,;HNRNPR,non_coding_transcript_exon_variant,,ENST00000476451,;HNRNPR,non_coding_transcript_exon_variant,,ENST00000470941,;	uc001bgr.3	c.749T>G	810/2629	3	3			c.749T>G						1	SNP	c.(748-750)GTT>GGT	54	54			upper_aerodigestive_tract(1)|skin(1)	2	Broad	heterogeneous nuclear ribonucleoprotein R			23648083		0.363	ENSG00000125944	7142	g.chr1:23648083A>C		catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding							5.07324	KEEP	11	15	-1	171	155	11	15	-1	63.857303	171	155	0.073248	1	0	0	0	0	1	0	0	0	--	--		0	C			HNRNPR_uc001bgp.3_Missense_Mutation_p.V250G|HNRNPR_uc009vqk.2_Missense_Mutation_p.V149G|HNRNPR_uc001bgs.3_Missense_Mutation_p.V149G|HNRNPR_uc010odw.1_Missense_Mutation_p.V212G|HNRNPR_uc010odx.1_Missense_Mutation_p.V90G|HNRNPR_uc009vql.2_Missense_Mutation_p.V111G	129	GBM-12-5295-TP	p.V250G	A	AATGGATCCAACAAAAAGTCT	NM_005826	NP_005817	23648083	O43390	HNRPR_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	7	908	-	C	C		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	250			RRM 2.			
HNRNPR	0	broad.mit.edu	GRCh37	1	23660032	23660032	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-4213-01	TCGA-32-4213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302271.6:c.477G>A	p.Val159=	p.V159=	ENST00000302271		159	gtG/gtA	0			1			T	V	uc001bgr.3	protein_coding		CCDS232.1			477/1902									upper_aerodigestive_tract(1)|skin(1)	2	c.(475-477)GTG>GTA			hmmpanther:PTHR24011:SF131,hmmpanther:PTHR24011,TIGRFAM_domain:TIGR01648,Superfamily_domains:SSF54928	heterogeneous nuclear ribonucleoprotein R				ENSP00000304405		11-May									COSM3400484,COSM3400483	11-May	.		ENST00000302271	Transcript				catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	ENSG00000125944	g.chr1:23660032C>T	5047			LOW								--	--	1																																		HNRNPR_uc001bgp.3_Silent_p.V159V|HNRNPR_uc009vqk.2_Silent_p.V58V|HNRNPR_uc001bgs.3_Silent_p.V58V|HNRNPR_uc010odw.1_Intron|HNRNPR_uc010odx.1_Silent_p.V58V|HNRNPR_uc009vql.2_Intron	1,1				p.V159V	NM_005826	NP_005817			1,1	HNRPR_HUMAN	HNRNPR	HGNC	O43390	HNRPR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	Q7Z334_HUMAN		5	636	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	UPI000013454C	159					SNV	HNRNPR,synonymous_variant,p.=,ENST00000478691,NM_001102399.1,NM_001102397.1;HNRNPR,synonymous_variant,p.=,ENST00000374612,NM_005826.3,NM_001102398.1;HNRNPR,synonymous_variant,p.=,ENST00000374616,;HNRNPR,synonymous_variant,p.=,ENST00000302271,;HNRNPR,synonymous_variant,p.=,ENST00000426846,;HNRNPR,intron_variant,,ENST00000427764,;HNRNPR,intron_variant,,ENST00000606561,;HNRNPR,non_coding_transcript_exon_variant,,ENST00000476451,;HNRNPR,non_coding_transcript_exon_variant,,ENST00000470941,;HNRNPR,intron_variant,,ENST00000463552,;HNRNPR,downstream_gene_variant,,ENST00000490652,;	uc001bgr.3	c.477G>A	538/2629	1	1			c.477G>A						1	SNP	c.(475-477)GTG>GTA	9	9			upper_aerodigestive_tract(1)|skin(1)	2	Broad	heterogeneous nuclear ribonucleoprotein R			23660032		0.453	ENSG00000125944	7142	g.chr1:23660032C>T		catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding							92.445412	KEEP	27	18	-1	46	43	27	18	-1	95.759005	46	43	0.318584	1	0	0	0	0	0	0	1	0	--	--		0	T			HNRNPR_uc001bgp.3_Silent_p.V159V|HNRNPR_uc009vqk.2_Silent_p.V58V|HNRNPR_uc001bgs.3_Silent_p.V58V|HNRNPR_uc010odw.1_Intron|HNRNPR_uc010odx.1_Silent_p.V58V|HNRNPR_uc009vql.2_Intron	247	GBM-32-4213-TP	p.V159V	C	TTCCAGGTTGCACGCCAGAGT	NM_005826	NP_005817	23660032	O43390	HNRPR_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	5	636	-	T	T		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	Silent	159						
HNRNPU	3192	broad.mit.edu	GRCh37	1	245022048	245022050	+	inframe_deletion	In_Frame_Del	DEL	CAT	CAT	-			TCGA-06-0155-01	TCGA-06-0155-01	CAT	CAT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283179.9:c.1211_1213del	p.Asp404del	p.D404del	ENST00000283179		404	gATGtg/gtg	0			1			-	DV/V	uc001iaz.1	protein_coding	YES	CCDS41479.1			1211-1213/2478										0	c.(1210-1215)GATGTG>GTG			Pfam_domain:PF00622,PROSITE_profiles:PS50188,hmmpanther:PTHR12381,hmmpanther:PTHR12381:SF11,SMART_domains:SM00449,Superfamily_domains:SSF49899	heterogeneous nuclear ribonucleoprotein U				ENSP00000283179		14-Jun									COSM2149984,COSM2149983	14-Jun	.		ENST00000283179	Transcript	1		CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	ENSG00000153187	g.chr1:245022048_245022050delCAT	5048			MODERATE								--	--	1																																		HNRNPU_uc001iaw.1_5'Flank|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_In_Frame_Del_p.D128del|HNRNPU_uc001iba.1_In_Frame_Del_p.D385del|HNRNPU_uc001ibb.1_In_Frame_Del_p.D92del	1,1	1			p.D404del	NM_031844	NP_114032			1,1	HNRPU_HUMAN	HNRNPU	HGNC	Q00839	HNRPU_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		Q9UEL2_HUMAN,Q96BA7_HUMAN,Q7Z4Q5_HUMAN		6	1429_1431	-	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		UPI000040E1C8	404			B30.2/SPRY.		deletion	HNRNPU,inframe_deletion,p.Asp385del,ENST00000444376,NM_004501.3,NM_031844.2;HNRNPU,inframe_deletion,p.Asp404del,ENST00000283179,;HNRNPU,inframe_deletion,p.Asp181del,ENST00000440865,;HNRNPU-AS1,upstream_gene_variant,,ENST00000475997,;HNRNPU-AS1,upstream_gene_variant,,ENST00000489705,;HNRNPU,non_coding_transcript_exon_variant,,ENST00000366525,;HNRNPU,non_coding_transcript_exon_variant,,ENST00000483966,;HNRNPU,non_coding_transcript_exon_variant,,ENST00000465881,;HNRNPU,downstream_gene_variant,,ENST00000476241,;HNRNPU,upstream_gene_variant,,ENST00000468690,;	uc001iaz.1	c.1211_1213delATG	1375-1377/3704	5	5			c.1211_1213delATG						1	DEL	c.(1210-1215)GATGTG>GTG	24	24				0	Broad	heterogeneous nuclear ribonucleoprotein U			245022050		0.31	ENSG00000153187	7143	g.chr1:245022048_245022050delCAT	CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	NSCLC(33;911 1010 3329 23631 49995)			NSCLC(33;911 1010 3329 23631 49995)																0.26	1	1	0	1	0	0	0	0	0	--	--		0	-			HNRNPU_uc001iaw.1_5'Flank|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_In_Frame_Del_p.D128del|HNRNPU_uc001iba.1_In_Frame_Del_p.D385del|HNRNPU_uc001ibb.1_In_Frame_Del_p.D92del	27	GBM-06-0155-TP	p.D404del	CAT	CATGTAATCACATCATTTTCATC	NM_031844	NP_114032	245022048	Q00839	HNRPU_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		6	1429_1431	-	-	-	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		In_Frame_Del	404			B30.2/SPRY.			
HOMER1	0	broad.mit.edu	GRCh37	5	78752779	78752781	+	inframe_deletion	In_Frame_Del	DEL	TTC	TTC	-			TCGA-19-2629-01	TCGA-19-2629-01	TTC	TTC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334082.6:c.66_68delGAA	p.Lys22del	p.K22del	ENST00000334082	NM_004272.4	22	aaGAAc/aac	0			1			-	KN/N	uc003kfy.2	protein_coding	YES	CCDS43335.1			66-68/1065										0	c.(64-69)AAGAAC>AAC			PROSITE_profiles:PS50229,hmmpanther:PTHR10918:SF3,hmmpanther:PTHR10918,Gene3D:2.30.29.30,Pfam_domain:PF00568,SMART_domains:SM00461,Superfamily_domains:SSF50729	homer 1				ENSP00000334382		9-Feb									COSM2156332	9-Feb	.		ENST00000334082	Transcript			activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane		ENSG00000152413	g.chr5:78752779_78752781delTTC	17512			MODERATE								--	--	1																																		HOMER1_uc010jab.2_In_Frame_Del_p.K22del|HOMER1_uc010jac.2_In_Frame_Del_p.K22del|HOMER1_uc010jad.2_Intron	1	1			p.K22del	NM_004272	NP_004263			1	HOME1_HUMAN	HOMER1	HGNC	Q86YM7	HOME1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)			2	1169_1171	-		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)	UPI000006D8F2	22			WH1.		deletion	HOMER1,inframe_deletion,p.Lys22del,ENST00000334082,NM_004272.4;HOMER1,inframe_deletion,p.Lys22del,ENST00000508576,NM_001277078.1;HOMER1,inframe_deletion,p.Lys22del,ENST00000282260,NM_001277077.1;HOMER1,intron_variant,,ENST00000535690,;	uc003kfy.2	c.66_68delGAA	1509-1511/5881	5	5			c.66_68delGAA						5	DEL	c.(64-69)AAGAAC>AAC	60	60				0	Broad	homer 1			78752781		0.433	ENSG00000152413	7148	g.chr5:78752779_78752781delTTC	activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane																					0.4	1	1	0	1	0	0	0	0	0	--	--		0	-			HOMER1_uc010jab.2_In_Frame_Del_p.K22del|HOMER1_uc010jac.2_In_Frame_Del_p.K22del|HOMER1_uc010jad.2_Intron	166	GBM-19-2629-TP	p.K22del	TTC	GGGTACCCAGTTCTTCTTTGTGT	NM_004272	NP_004263	78752779	Q86YM7	HOME1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)	2	1169_1171	-	-	-		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)	In_Frame_Del	22			WH1.			
HOMER3	9454	broad.mit.edu	GRCh37	19	19049592	19049592	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0221-01	TCGA-06-0221-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000539827.1:c.116A>G	p.Tyr39Cys	p.Y39C	ENST00000539827		39	tAt/tGt	0	C:0		1			C	Y/C	uc002nku.2	protein_coding		CCDS12391.1			116/1086										0	c.(115-117)TAT>TGT			PROSITE_profiles:PS50229,hmmpanther:PTHR10918:SF4,hmmpanther:PTHR10918,Gene3D:2.30.29.30,Pfam_domain:PF00568,SMART_domains:SM00461,Superfamily_domains:SSF50729	Homer, neuronal immediate early gene, 3 isoform			C:0.0001	ENSP00000376162		10-Mar	7.42E-05					9.29E-05	0.00242	0.000293	rs374896199,COSM3403975	10-Mar	.		ENST00000392351	Transcript			metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding	ENSG00000051128	g.chr19:19049592T>C	17514			MODERATE		2.075	medium	getma.org/?cm=msa&ty=f&p=HOME3_HUMAN&rb=1&re=110&var=Y39C	getma.org/pdb.php?prot=HOME3_HUMAN&from=1&to=110&var=Y39C	getma.org/?cm=var&var=hg19,19,19049592,T,C&fts=all	Y39C	--	--	1																																		HOMER3_uc010eby.2_Missense_Mutation_p.Y39C|HOMER3_uc010ebz.2_Missense_Mutation_p.Y39C|HOMER3_uc002nkw.2_Missense_Mutation_p.Y39C|HOMER3_uc002nkv.2_Missense_Mutation_p.Y39C	0,1			probably_damaging(0.999)	p.Y39C	NM_004838	NP_004829		deleterious(0)	0,1	HOME3_HUMAN	HOMER3	HGNC	Q9NSC5	HOME3_HUMAN	Epithelial(12;0.0107)		M0R2U7_HUMAN,M0R2T8_HUMAN,M0QZN1_HUMAN		2	769	-			UPI0000140C32	39			WH1.		SNV	HOMER3,missense_variant,p.Tyr39Cys,ENST00000539827,;HOMER3,missense_variant,p.Tyr39Cys,ENST00000542541,NM_001145722.1;HOMER3,missense_variant,p.Tyr39Cys,ENST00000392351,NM_004838.3;HOMER3,missense_variant,p.Tyr39Cys,ENST00000433218,NM_001145721.1;HOMER3,missense_variant,p.Tyr39Cys,ENST00000221222,NM_001145724.1;HOMER3,missense_variant,p.Tyr39Cys,ENST00000355887,;HOMER3,missense_variant,p.Tyr39Cys,ENST00000594439,;HOMER3,missense_variant,p.Tyr39Cys,ENST00000596482,;HOMER3,missense_variant,p.Tyr39Cys,ENST00000599097,;HOMER3,missense_variant,p.Tyr39Cys,ENST00000600077,;HOMER3,intron_variant,,ENST00000594794,;AC005932.1,upstream_gene_variant,,ENST00000601106,;HOMER3,non_coding_transcript_exon_variant,,ENST00000599808,;AC002985.3,upstream_gene_variant,,ENST00000596918,;AC002985.3,upstream_gene_variant,,ENST00000593484,;	uc002nku.2	c.116A>G	347/1557	3	3			c.116A>G						19	SNP	c.(115-117)TAT>TGT	11	11				0	Broad	Homer, neuronal immediate early gene, 3 isoform			19049592		0.562	ENSG00000051128	7150	g.chr19:19049592T>C	metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding							9.324376	KEEP	1	2	-1	4	6	1	2	-1	10.002595	4	6	0.25	1	0	0	0	0	1	0	0	0	--	--		0	C			HOMER3_uc010eby.2_Missense_Mutation_p.Y39C|HOMER3_uc010ebz.2_Missense_Mutation_p.Y39C|HOMER3_uc002nkw.2_Missense_Mutation_p.Y39C|HOMER3_uc002nkv.2_Missense_Mutation_p.Y39C	53	GBM-06-0221-TP	p.Y39C	T	ATCGTAGAAATAGGAGACAGT	NM_004838	NP_004829	19049592	Q9NSC5	HOME3_HUMAN	0	Epithelial(12;0.0107)		2	769	-	C	C			Missense_Mutation	39			WH1.			
HOMER3	0	broad.mit.edu	GRCh37	19	19043763	19043784	+	frameshift_variant	Frame_Shift_Del	DEL	CGCTCTGTGGGGCCGGGGGCAT	CGCTCTGTGGGGCCGGGGGCAT	-	rs147820524	byFrequency	TCGA-19-5950-01	TCGA-19-5950-01	CGCTCTGTGGGGCCGGGGGCAT	CGCTCTGTGGGGCCGGGGGCAT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392351.3:c.482_503delATGCCCCCGGCCCCACAGAGCG	p.Asp161AlafsTer4	p.D161Afs*4	ENST00000392351	NM_004838.3	161	gATGCCCCCGGCCCCACAGAGCGc/gc	0			1			-	DAPGPTER/X	uc002nku.2	protein_coding		CCDS12391.1			482-503/1086										0	c.(481-504)GATGCCCCCGGCCCCACAGAGCGCfs			hmmpanther:PTHR10918:SF4,hmmpanther:PTHR10918	Homer, neuronal immediate early gene, 3 isoform				ENSP00000376162		10-Jun										10-Jun	.		ENST00000392351	Transcript			metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding	ENSG00000051128	g.chr19:19043763_19043784delCGCTCTGTGGGGCCGGGGGCAT	17514			HIGH								--	--	1																																		HOMER3_uc002nko.1_RNA|HOMER3_uc002nkp.1_RNA|HOMER3_uc010eby.2_Frame_Shift_Del_p.D125fs|HOMER3_uc010ebz.2_Frame_Shift_Del_p.D161fs|HOMER3_uc002nkw.2_Frame_Shift_Del_p.D161fs|HOMER3_uc002nkv.2_Frame_Shift_Del_p.D161fs					p.D161fs	NM_004838	NP_004829				HOME3_HUMAN	HOMER3	HGNC	Q9NSC5	HOME3_HUMAN	Epithelial(12;0.0107)		M0R2U7_HUMAN,M0R2T8_HUMAN,M0QZN1_HUMAN		5	1135_1156	-			UPI0000140C32	161_168					deletion	HOMER3,frameshift_variant,p.Asp161AlafsTer4,ENST00000539827,;HOMER3,frameshift_variant,p.Asp161AlafsTer4,ENST00000542541,NM_001145722.1;HOMER3,frameshift_variant,p.Asp161AlafsTer4,ENST00000392351,NM_004838.3;HOMER3,frameshift_variant,p.Asp161AlafsTer4,ENST00000433218,NM_001145721.1;HOMER3,frameshift_variant,p.Asp161AlafsTer4,ENST00000221222,NM_001145724.1;HOMER3,frameshift_variant,p.Asp161AlafsTer4,ENST00000355887,;HOMER3,frameshift_variant,p.Asp125AlafsTer4,ENST00000594439,;HOMER3,frameshift_variant,p.Asp161AlafsTer4,ENST00000596482,;HOMER3,intron_variant,,ENST00000594794,;DDX49,downstream_gene_variant,,ENST00000438170,;DDX49,downstream_gene_variant,,ENST00000247003,NM_019070.4;HOMER3,downstream_gene_variant,,ENST00000600077,;AC002985.3,frameshift_variant,p.Asp56AlafsTer4,ENST00000596918,;AC002985.3,frameshift_variant,p.Asp56AlafsTer4,ENST00000593484,;HOMER3,non_coding_transcript_exon_variant,,ENST00000595756,;DDX49,downstream_gene_variant,,ENST00000595858,;DDX49,downstream_gene_variant,,ENST00000602113,;DDX49,downstream_gene_variant,,ENST00000598277,;DDX49,downstream_gene_variant,,ENST00000596502,;	uc002nku.2	c.482_503delATGCCCCCGGCCCCACAGAGCG	713-734/1557	5	5			c.482_503delATGCCCCCGGCCCCACAGAGCG						19	DEL	c.(481-504)GATGCCCCCGGCCCCACAGAGCGCfs	15	15				0	Broad	Homer, neuronal immediate early gene, 3 isoform			19043784		0.437	ENSG00000051128	7150	g.chr19:19043763_19043784delCGCTCTGTGGGGCCGGGGGCAT	metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding																				0.12	1	1	0	1	0	0	0	0	0	--	--		0	-			HOMER3_uc002nko.1_RNA|HOMER3_uc002nkp.1_RNA|HOMER3_uc010eby.2_Frame_Shift_Del_p.D125fs|HOMER3_uc010ebz.2_Frame_Shift_Del_p.D161fs|HOMER3_uc002nkw.2_Frame_Shift_Del_p.D161fs|HOMER3_uc002nkv.2_Frame_Shift_Del_p.D161fs	170	GBM-19-5950-TP	p.D161fs	CGCTCTGTGGGGCCGGGGGCAT	TAGCCGCTCGCGCTCTGTGGGGCCGGGGGCATCAGCGCTCTG	NM_004838	NP_004829	19043763	Q9NSC5	HOME3_HUMAN	0	Epithelial(12;0.0107)		5	1135_1156	-	-	-			Frame_Shift_Del	161_168						
HOMEZ	0	broad.mit.edu	GRCh37	14	23746303	23746303	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01	TCGA-32-4213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357460.5:c.134C>T	p.Pro45Leu	p.P45L	ENST00000357460	NM_020834.2	45	cCt/cTt	0			1			A	P/L	uc001wja.2	protein_coding	YES	CCDS45085.1			134/1653										0	c.(133-135)CCT>CTT			hmmpanther:PTHR15467	homeodomain leucine zipper protein				ENSP00000350049		2-Feb									COSM3401242,COSM3401241	2-Feb	.		ENST00000357460	Transcript				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000215271	g.chr14:23746303G>A	20164			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=HOMEZ_HUMAN&rb=1&re=68&var=P45L	NA	getma.org/?cm=var&var=hg19,14,23746303,G,A&fts=all	P45L	--	--	1																																		HOMEZ_uc001wjb.2_Missense_Mutation_p.P47L	1,1	1		probably_damaging(0.999)	p.P45L	NM_020834	NP_065885		deleterious(0)	1,1	HOMEZ_HUMAN	HOMEZ	HGNC	Q8IX15	HOMEZ_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	B4DLB7_HUMAN		2	282	-	all_cancers(95;5.54e-06)		UPI0000EE4A53	45					SNV	HOMEZ,missense_variant,p.Pro45Leu,ENST00000357460,NM_020834.2;HOMEZ,missense_variant,p.Pro47Leu,ENST00000561013,;HOMEZ,missense_variant,p.Pro47Leu,ENST00000431326,;HOMEZ,missense_variant,p.Pro46Leu,ENST00000606006,;C14orf164,downstream_gene_variant,,ENST00000399910,;C14orf164,downstream_gene_variant,,ENST00000399905,;C14orf164,downstream_gene_variant,,ENST00000430154,;HOMEZ,upstream_gene_variant,,ENST00000606731,;C14orf164,downstream_gene_variant,,ENST00000492621,;C14orf164,downstream_gene_variant,,ENST00000492355,;C14orf164,downstream_gene_variant,,ENST00000470818,;	uc001wja.2	c.134C>T	299/4936	1	1			c.134C>T						14	SNP	c.(133-135)CCT>CTT	56	56				0	Broad	homeodomain leucine zipper protein			23746303		0.532	ENSG00000215271	7151	g.chr14:23746303G>A		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							-9.631672	KEEP	1	3	-1	43	30	1	3	-1	6.618626	43	30	0.041667	1	0	0	0	0	1	0	0	0	--	--		0	A			HOMEZ_uc001wjb.2_Missense_Mutation_p.P47L	247	GBM-32-4213-TP	p.P45L	G	AGAGATTGGAGGGAGGCAGAT	NM_020834	NP_065885	23746303	Q8IX15	HOMEZ_HUMAN	0		GBM - Glioblastoma multiforme(265;0.00643)	2	282	-	A	A	all_cancers(95;5.54e-06)		Missense_Mutation	45						
HOOK1	51361	broad.mit.edu	GRCh37	1	60299185	60299185	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01	TCGA-06-0185-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371208.3:c.382G>A	p.Ala128Thr	p.A128T	ENST00000371208	NM_015888.4	128	Gcg/Acg	0			1			A	A/T	uc009wad.2	protein_coding	YES	CCDS612.1			382/2187									ovary(1)|breast(1)	2	c.(382-384)GCG>ACG			hmmpanther:PTHR18947,hmmpanther:PTHR18947:SF33,Pfam_domain:PF05622,Superfamily_domains:0050601	hook homolog 1				ENSP00000360252		22-May									COSM3400924	22-May	.		ENST00000371208	Transcript			early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	ENSG00000134709	g.chr1:60299185G>A	19884			MODERATE		2.955	medium	getma.org/?cm=msa&ty=f&p=HOOK1_HUMAN&rb=7&re=728&var=A128T	getma.org/pdb.php?prot=HOOK1_HUMAN&from=7&to=728&var=A128T	getma.org/?cm=var&var=hg19,1,60299185,G,A&fts=all	A128T	--	--	1																																		HOOK1_uc001czo.2_Missense_Mutation_p.A128T|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Missense_Mutation_p.A86T	1	1		probably_damaging(0.984)	p.A128T	NM_015888	NP_056972		deleterious(0)	1	HOOK1_HUMAN	HOOK1	HGNC	Q9UJC3	HOOK1_HUMAN			B1AK95_HUMAN,A8MU44_HUMAN		6	484	+	all_cancers(7;0.000129)		UPI0000071E61	128			Sufficient for interaction with microtubules.		SNV	HOOK1,missense_variant,p.Ala128Thr,ENST00000371208,NM_015888.4;HOOK1,missense_variant,p.Ala86Thr,ENST00000395561,;HOOK1,missense_variant,p.Ala128Thr,ENST00000455990,;HOOK1,non_coding_transcript_exon_variant,,ENST00000465876,;	uc009wad.2	c.382G>A	639/5857	1	1			c.382G>A						1	SNP	c.(382-384)GCG>ACG	64	64			ovary(1)|breast(1)	2	Broad	hook homolog 1			60299185		0.373	ENSG00000134709	7152	g.chr1:60299185G>A	early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding							152.892841	KEEP	29	41	-1	45	42	29	41	-1	153.566204	45	42	0.423077	1	0	0	0	0	1	0	0	0	--	--		0	A			HOOK1_uc001czo.2_Missense_Mutation_p.A128T|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Missense_Mutation_p.A86T	40	GBM-06-0185-TP	p.A128T	G	TTTAGGTTGTGCGATCAACTG	NM_015888	NP_056972	60299185	Q9UJC3	HOOK1_HUMAN	0			6	484	+	A	A	all_cancers(7;0.000129)		Missense_Mutation	128			Sufficient for interaction with microtubules.			
HOOK1	0	broad.mit.edu	GRCh37	1	60312821	60312821	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-27-2521-01	TCGA-27-2521-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371208.3:c.893A>T	p.Glu298Val	p.E298V	ENST00000371208	NM_015888.4	298	gAa/gTa	0			1			T	E/V	uc009wad.2	protein_coding	YES	CCDS612.1			893/2187									ovary(1)|breast(1)	2	c.(892-894)GAA>GTA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18947,hmmpanther:PTHR18947:SF33,Pfam_domain:PF05622	hook homolog 1				ENSP00000360252		22-Oct									COSM3400925	22-Oct	.		ENST00000371208	Transcript			early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	ENSG00000134709	g.chr1:60312821A>T	19884			MODERATE		2.87	medium	getma.org/?cm=msa&ty=f&p=HOOK1_HUMAN&rb=7&re=728&var=E298V	NA	getma.org/?cm=var&var=hg19,1,60312821,A,T&fts=all	E298V	--	--	1																																		HOOK1_uc001czo.2_Missense_Mutation_p.E298V|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Missense_Mutation_p.E256V	1	1		probably_damaging(1)	p.E298V	NM_015888	NP_056972		deleterious(0)	1	HOOK1_HUMAN	HOOK1	HGNC	Q9UJC3	HOOK1_HUMAN			B1AK95_HUMAN,A8MU44_HUMAN		11	995	+	all_cancers(7;0.000129)		UPI0000071E61	298			Potential.|Sufficient for interaction with microtubules.		SNV	HOOK1,missense_variant,p.Glu298Val,ENST00000371208,NM_015888.4;HOOK1,missense_variant,p.Glu256Val,ENST00000395561,;HOOK1,non_coding_transcript_exon_variant,,ENST00000465876,;	uc009wad.2	c.893A>T	1150/5857	2	2			c.893A>T						1	SNP	c.(892-894)GAA>GTA	18	18			ovary(1)|breast(1)	2	Broad	hook homolog 1			60312821		0.348	ENSG00000134709	7152	g.chr1:60312821A>T	early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding							169.500016	KEEP	36	27	-1	51	37	36	27	-1	169.967262	51	37	0.437037	1	0	0	0	0	1	0	0	0	--	--		0	T			HOOK1_uc001czo.2_Missense_Mutation_p.E298V|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Missense_Mutation_p.E256V	200	GBM-27-2521-TP	p.E298V	A	CTTGCAGAAGAAACAAGAGCC	NM_015888	NP_056972	60312821	Q9UJC3	HOOK1_HUMAN	0			11	995	+	T	T	all_cancers(7;0.000129)		Missense_Mutation	298			Potential.|Sufficient for interaction with microtubules.			
HOOK2	0	broad.mit.edu	GRCh37	19	12874555	12874555	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01	TCGA-14-1395-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397668.3:c.1865C>T	p.Ala622Val	p.A622V	ENST00000397668	NM_013312.2	622	gCg/gTg	0			1			A	A/V	uc002muy.2	protein_coding	YES	CCDS42508.1			1865/2160									ovary(1)|breast(1)|skin(1)	3	c.(1864-1866)GCG>GTG			Pfam_domain:PF05622,hmmpanther:PTHR18947	hook homolog 2 isoform 1				ENSP00000380785		21/23									rs751517458,COSM3403787	21/23	.		ENST00000397668	Transcript			early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	ENSG00000095066	g.chr19:12874555G>A	19885			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=HOOK2_HUMAN&rb=1&re=717&var=A622V	NA	getma.org/?cm=var&var=hg19,19,12874555,G,A&fts=all	A622V	--	--	1																																		HOOK2_uc010xmq.1_Missense_Mutation_p.A27V|HOOK2_uc002muz.2_Missense_Mutation_p.A620V	0,1	1		benign(0.009)	p.A622V	NM_013312	NP_037444		tolerated(0.22)	0,1	HOOK2_HUMAN	HOOK2	HGNC	Q96ED9	HOOK2_HUMAN			K7ENU5_HUMAN,K7EMR5_HUMAN,K7EJ48_HUMAN		21	2036	-			UPI00003D0BC0	622			Sufficient for interaction with CEP110.|Required for localization to the centrosome and induction of aggresome formation.		SNV	HOOK2,missense_variant,p.Ala620Val,ENST00000264827,NM_001100176.1;HOOK2,missense_variant,p.Ala622Val,ENST00000397668,NM_013312.2;HOOK2,downstream_gene_variant,,ENST00000589965,;HOOK2,non_coding_transcript_exon_variant,,ENST00000586710,;HOOK2,downstream_gene_variant,,ENST00000592259,;HOOK2,downstream_gene_variant,,ENST00000591839,;HOOK2,downstream_gene_variant,,ENST00000589398,;HOOK2,downstream_gene_variant,,ENST00000586188,;HOOK2,upstream_gene_variant,,ENST00000589915,;	uc002muy.2	c.1865C>T	1939/2513	2	2			c.1865C>T						19	SNP	c.(1864-1866)GCG>GTG	35	35			ovary(1)|breast(1)|skin(1)	3	Broad	hook homolog 2 isoform 1			12874555		0.602	ENSG00000095066	7153	g.chr19:12874555G>A	early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding							48.796452	KEEP	10	10	-1	21	23	10	10	-1	50.203486	21	23	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	A			HOOK2_uc010xmq.1_Missense_Mutation_p.A27V|HOOK2_uc002muz.2_Missense_Mutation_p.A620V	144	GBM-14-1395-TP	p.A622V	G	AGGTGCCCCCGCAGCTGGCCG	NM_013312	NP_037444	12874555	Q96ED9	HOOK2_HUMAN	0			21	2036	-	A	A			Missense_Mutation	622			Sufficient for interaction with CEP110.|Required for localization to the centrosome and induction of aggresome formation.			
HOOK2	0	broad.mit.edu	GRCh37	19	12876795	12876795	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-16-1045-01	TCGA-16-1045-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397668.3:c.1545C>T	p.Ala515=	p.A515=	ENST00000397668	NM_013312.2	515	gcC/gcT	0			1			A	A	uc002muy.2	protein_coding	YES	CCDS42508.1			1545/2160									ovary(1)|breast(1)|skin(1)	3	c.(1543-1545)GCC>GCT			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF05622,hmmpanther:PTHR18947	hook homolog 2 isoform 1				ENSP00000380785		16/23									COSM3403788	16/23	.		ENST00000397668	Transcript			early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	ENSG00000095066	g.chr19:12876795G>A	19885			LOW								--	--	1																																OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	HOOK2_uc010xmq.1_5'UTR|HOOK2_uc002muz.2_Silent_p.A515A	1	1			p.A515A	NM_013312	NP_037444			1	HOOK2_HUMAN	HOOK2	HGNC	Q96ED9	HOOK2_HUMAN			K7ENU5_HUMAN,K7EMR5_HUMAN,K7EJ48_HUMAN		16	1716	-			UPI00003D0BC0	515			Sufficient for interaction with microtubules.|Potential.		SNV	HOOK2,synonymous_variant,p.=,ENST00000264827,NM_001100176.1;HOOK2,synonymous_variant,p.=,ENST00000397668,NM_013312.2;HOOK2,downstream_gene_variant,,ENST00000589400,;HOOK2,downstream_gene_variant,,ENST00000592079,;HOOK2,intron_variant,,ENST00000589965,;HOOK2,non_coding_transcript_exon_variant,,ENST00000592259,;HOOK2,non_coding_transcript_exon_variant,,ENST00000591839,;HOOK2,non_coding_transcript_exon_variant,,ENST00000589398,;HOOK2,intron_variant,,ENST00000586188,;HOOK2,upstream_gene_variant,,ENST00000586710,;HOOK2,upstream_gene_variant,,ENST00000589915,;	uc002muy.2	c.1545C>T	1619/2513	2	2			c.1545C>T						19	SNP	c.(1543-1545)GCC>GCT	44	44			ovary(1)|breast(1)|skin(1)	3	Broad	hook homolog 2 isoform 1			12876795		0.672	ENSG00000095066	7153	g.chr19:12876795G>A	early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding							-25.379985	KEEP	0	3	-1	73	73	0	3	-1	6.378301	73	73	0.02381	1	0	0	0	0	0	0	1	0	--	--		0	A	OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	HOOK2_uc010xmq.1_5'UTR|HOOK2_uc002muz.2_Silent_p.A515A	157	GBM-16-1045-TP	p.A515A	G	CCTCCACCTGGGCCCGCAGCT	NM_013312	NP_037444	12876795	Q96ED9	HOOK2_HUMAN	0			16	1716	-	A	A			Silent	515			Sufficient for interaction with microtubules.|Potential.			
HOOK3	0	broad.mit.edu	GRCh37	8	42841865	42841866	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-14-1034-01	TCGA-14-1034-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307602.4:c.1465dupA	p.Ile489AsnfsTer10	p.I489Nfs*10	ENST00000307602	NM_032410.3	487	gaa/gAaa	0			1			A	E/EX	uc003xpr.2	protein_coding	YES	CCDS6139.1			1459-1460/2157	T		RET		papillary thyroid				ovary(1)|breast(1)	2	c.(1459-1461)GAAfs			hmmpanther:PTHR18947,hmmpanther:PTHR18947:SF9,Pfam_domain:PF05622	golgi-associated microtubule-binding protein				ENSP00000305699		15/22										15/22	.		ENST00000307602	Transcript			cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	ENSG00000168172	g.chr8:42841865_42841866insA	23576	6		HIGH								--	--	1																																		HOOK3_uc010lxq.1_Frame_Shift_Ins_p.E487fs		1			p.E487fs	NM_032410	NP_115786				HOOK3_HUMAN	HOOK3	HGNC	Q86VS8	HOOK3_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)				15	1701_1702	+	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	UPI000006DD7B	487			Potential.		insertion	HOOK3,frameshift_variant,p.Ile489AsnfsTer10,ENST00000307602,NM_032410.3;HOOK3,frameshift_variant,p.Ile75AsnfsTer10,ENST00000526882,;HOOK3,non_coding_transcript_exon_variant,,ENST00000527306,;	uc003xpr.2	c.1459_1460insA	1659-1660/14398	5	5			c.1459_1460insA	T		RET		papillary thyroid	8	INS	c.(1459-1461)GAAfs	35	35			ovary(1)|breast(1)	2	Broad	golgi-associated microtubule-binding protein			42841866		0.361	ENSG00000168172	7154	g.chr8:42841865_42841866insA	cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding																				0.35	1	0	0	1	1	0	0	0	0	--	--		0	A			HOOK3_uc010lxq.1_Frame_Shift_Ins_p.E487fs	142	GBM-14-1034-TP	p.E487fs	-	TTCGGACAATGAAAAAATAGCC	NM_032410	NP_115786	42841865	Q86VS8	HOOK3_HUMAN	0	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		15	1701_1702	+	A	A	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Frame_Shift_Ins	487			Potential.			
HOXA13	0	broad.mit.edu	GRCh37	7	27238936	27238936	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-2494-01	TCGA-32-2494-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222753.4:c.761T>C	p.Val254Ala	p.V254A	ENST00000222753	NM_000522.4	254	gTg/gCg	0			1			G	V/A	uc003szb.1	protein_coding	YES	CCDS5412.1			761/1167	T		NUP98		AML				breast(1)	1	c.(760-762)GTG>GCG			hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF119	homeobox A13				ENSP00000222753		2-Jan									COSM3411957	2-Jan	.		ENST00000222753	Transcript	1		skeletal system development	nucleus	sequence-specific DNA binding	ENSG00000106031	g.chr7:27238936A>G	5102			MODERATE		2.93	medium	getma.org/?cm=msa&ty=f&p=HXA13_HUMAN&rb=225&re=322&var=V254A	NA	getma.org/?cm=var&var=hg19,7,27238936,A,G&fts=all	V254A	--	--	1																																		uc003szc.1_5'Flank	1	1		possibly_damaging(0.817)	p.V254A	NM_000522	NP_000513		deleterious(0.02)	1	HXA13_HUMAN	HOXA13	HGNC	P31271	HXA13_HUMAN					1	790	-			UPI000013C812	254					SNV	HOXA13,missense_variant,p.Val254Ala,ENST00000222753,NM_000522.4;HOTTIP,intron_variant,,ENST00000421733,;HOTTIP,upstream_gene_variant,,ENST00000521028,;HOTTIP,upstream_gene_variant,,ENST00000472494,;HOTTIP,upstream_gene_variant,,ENST00000605136,;HOXA13,upstream_gene_variant,,ENST00000518136,;	uc003szb.1	c.761T>C	790/4376	4	4			c.761T>C	T		NUP98		AML	7	SNP	c.(760-762)GTG>GCG	17	17			breast(1)	1	Broad	homeobox A13			27238936		0.672	ENSG00000106031	7161	g.chr7:27238936A>G	skeletal system development	nucleus	sequence-specific DNA binding			52			52	23.593273	KEEP	8	7	-1	23	29	8	7	-1	29.23937	23	29	0.183333	1	0	0	0	0	1	0	0	0	--	--		0	G			uc003szc.1_5'Flank	236	GBM-32-2494-TP	p.V254A	A	GCCCGGCACCACTGGCATATC	NM_000522	NP_000513	27238936	P31271	HXA13_HUMAN	0			1	790	-	G	G			Missense_Mutation	254						
HOXA2	3199	broad.mit.edu	GRCh37	7	27142031	27142031	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0128-01	TCGA-06-0128-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222718.5:c.89A>T	p.Asp30Val	p.D30V	ENST00000222718	NM_006735.3	30	gAt/gTt	0			1			A	D/V	uc003syh.2	protein_coding	YES	CCDS5403.1			89/1131									ovary(1)|skin(1)	2	c.(88-90)GAT>GTT				homeobox A2				ENSP00000222718		2-Jan									COSM3411956	2-Jan	.		ENST00000222718	Transcript	1			nucleus	sequence-specific DNA binding transcription factor activity	ENSG00000105996	g.chr7:27142031T>A	5103			MODERATE		2.89	medium	getma.org/?cm=msa&ty=f&p=HXA2_HUMAN&rb=1&re=143&var=D30V	NA	getma.org/?cm=var&var=hg19,7,27142031,T,A&fts=all	D30V	--	--	1																																			1	1		probably_damaging(0.959)	p.D30V	NM_006735	NP_006726		deleterious(0)	1	HXA2_HUMAN	HOXA2	HGNC	O43364	HXA2_HUMAN					1	364	-			UPI0000049C49	30					SNV	HOXA2,missense_variant,p.Asp30Val,ENST00000222718,NM_006735.3;HOXA3,downstream_gene_variant,,ENST00000396352,NM_030661.4;HOXA3,downstream_gene_variant,,ENST00000317201,NM_153631.2;HOTAIRM1,downstream_gene_variant,,ENST00000428939,;HOTAIRM1,downstream_gene_variant,,ENST00000429611,;HOTAIRM1,downstream_gene_variant,,ENST00000434063,;HOTAIRM1,downstream_gene_variant,,ENST00000593300,;HOTAIRM1,downstream_gene_variant,,ENST00000425358,;	uc003syh.2	c.89A>T	400/2066	1	1			c.89A>T						7	SNP	c.(88-90)GAT>GTT	62	62			ovary(1)|skin(1)	2	Broad	homeobox A2			27142031		0.493	ENSG00000105996	7162	g.chr7:27142031T>A		nucleus	sequence-specific DNA binding transcription factor activity							52.228452	KEEP	16	20	-1	133	126	16	20	-1	86.18153	133	126	0.12749	1	0	0	0	0	1	0	0	0	--	--		0	A				14	GBM-06-0128-TP	p.D30V	T	TTGAAATGTATCAGCGACAGG	NM_006735	NP_006726	27142031	O43364	HXA2_HUMAN	0			1	364	-	A	A			Missense_Mutation	30						
HOXA6	0	broad.mit.edu	GRCh37	7	27185435	27185435	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-5132-01	TCGA-26-5132-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222728.3:c.544C>T	p.Arg182Trp	p.R182W	ENST00000222728	NM_024014.3	182	Cgg/Tgg	0			1			A	R/W	uc003syo.1	protein_coding	YES	CCDS5407.1			544/702									ovary(1)|central_nervous_system(1)	2	c.(544-546)CGG>TGG			Gene3D:1.10.10.60,Pfam_domain:PF00046,Prints_domain:PR00024,PROSITE_profiles:PS50071,hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF142,SMART_domains:SM00389,Superfamily_domains:SSF46689	homeobox A6				ENSP00000222728		2-Feb									COSM2156940	2-Feb	.		ENST00000222728	Transcript				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000106006	g.chr7:27185435G>A	5107			MODERATE		3.575	high	getma.org/?cm=msa&ty=f&p=HXA6_HUMAN&rb=156&re=212&var=R182W	getma.org/pdb.php?prot=HXA6_HUMAN&from=156&to=212&var=R182W	getma.org/?cm=var&var=hg19,7,27185435,G,A&fts=all	R182W	--	--	1																																		HOXA5_uc003syn.1_5'Flank|uc003syp.1_5'Flank	1	1		probably_damaging(0.993)	p.R182W	NM_024014	NP_076919		deleterious(0)	1	HXA6_HUMAN	HOXA6	HGNC	P31267	HXA6_HUMAN					2	544	-			UPI000012CF32	182			Homeobox.		SNV	HOXA6,missense_variant,p.Arg182Trp,ENST00000222728,NM_024014.3;HOXA5,upstream_gene_variant,,ENST00000222726,NM_019102.3;HOXA-AS3,intron_variant,,ENST00000521197,;HOXA-AS3,intron_variant,,ENST00000518848,;HOXA-AS3,upstream_gene_variant,,ENST00000518947,;HOXA-AS3,upstream_gene_variant,,ENST00000524304,;HOXA-AS3,upstream_gene_variant,,ENST00000521231,;HOXA6,non_coding_transcript_exon_variant,,ENST00000521478,;RP1-170O19.22,intron_variant,,ENST00000467897,;HOXA3,intron_variant,,ENST00000518451,;RP1-170O19.23,downstream_gene_variant,,ENST00000498652,;HOXA5,upstream_gene_variant,,ENST00000520854,;	uc003syo.1	c.544C>T	569/989	1	1			c.544C>T						7	SNP	c.(544-546)CGG>TGG	64	64			ovary(1)|central_nervous_system(1)	2	Broad	homeobox A6			27185435		0.602	ENSG00000106006	7166	g.chr7:27185435G>A		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							344.987795	KEEP	82	69	-1	156	174	82	69	-1	356.61688	156	174	0.322967	1	0	0	0	0	1	0	0	0	--	--		0	A			HOXA5_uc003syn.1_5'Flank|uc003syp.1_5'Flank	181	GBM-26-5132-TP	p.R182W	G	CGGCGGCGCCGTGTCAGGTAG	NM_024014	NP_076919	27185435	P31267	HXA6_HUMAN	0			2	544	-	A	A			Missense_Mutation	182			Homeobox.			
HOXA6	0	broad.mit.edu	GRCh37	7	27186942	27186942	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-27-1835-01	TCGA-27-1835-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222728.3:c.427A>C	p.Met143Leu	p.M143L	ENST00000222728	NM_024014.3	143	Atg/Ctg	0			1			G	M/L	uc003syo.1	protein_coding	YES	CCDS5407.1			427/702									ovary(1)|central_nervous_system(1)	2	c.(427-429)ATG>CTG			hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF142,Superfamily_domains:SSF46689	homeobox A6				ENSP00000222728		2-Jan									COSM2157240	2-Jan	.		ENST00000222728	Transcript				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000106006	g.chr7:27186942T>G	5107			MODERATE		1.055	low	getma.org/?cm=msa&ty=f&p=HXA6_HUMAN&rb=101&re=185&var=M143L	NA	getma.org/?cm=var&var=hg19,7,27186942,T,G&fts=all	M143L	--	--	1																																		uc003syp.1_Missense_Mutation_p.S9A	1	1		benign(0.267)	p.M143L	NM_024014	NP_076919		deleterious(0.03)	1	HXA6_HUMAN	HOXA6	HGNC	P31267	HXA6_HUMAN					1	427	-			UPI000012CF32	143					SNV	HOXA6,missense_variant,p.Met143Leu,ENST00000222728,NM_024014.3;HOXA5,upstream_gene_variant,,ENST00000222726,NM_019102.3;HOXA-AS3,non_coding_transcript_exon_variant,,ENST00000518947,;HOXA-AS3,intron_variant,,ENST00000521197,;HOXA-AS3,intron_variant,,ENST00000518848,;HOXA-AS3,upstream_gene_variant,,ENST00000524304,;HOXA-AS3,upstream_gene_variant,,ENST00000521231,;HOXA6,non_coding_transcript_exon_variant,,ENST00000521478,;RP1-170O19.22,intron_variant,,ENST00000467897,;HOXA3,intron_variant,,ENST00000518451,;RP1-170O19.23,downstream_gene_variant,,ENST00000498652,;HOXA5,upstream_gene_variant,,ENST00000520854,;	uc003syo.1	c.427A>C	452/989	3	3			c.427A>C						7	SNP	c.(427-429)ATG>CTG	6	6			ovary(1)|central_nervous_system(1)	2	Broad	homeobox A6			27186942		0.493	ENSG00000106006	7166	g.chr7:27186942T>G		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							151.078099	KEEP	26	31	-1	85	86	26	31	-1	160.706947	85	86	0.263158	1	0	0	0	0	1	0	0	0	--	--		0	G			uc003syp.1_Missense_Mutation_p.S9A	194	GBM-27-1835-TP	p.M143L	T	CAGGAGTTCATCCGCTGCATC	NM_024014	NP_076919	27186942	P31267	HXA6_HUMAN	0			1	427	-	G	G			Missense_Mutation	143						
HOXA9	0	broad.mit.edu	GRCh37	7	27204781	27204781	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01	TCGA-14-0813-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343483.6:c.296C>T	p.Ala99Val	p.A99V	ENST00000343483	NM_152739.3	99	gCg/gTg	0			1			A	A/V	uc003syt.2	protein_coding	YES	CCDS5409.1			296/819	T		NUP98|MSI2		AML*				lung(1)|central_nervous_system(1)	2	c.(295-297)GCG>GTG			Pfam_domain:PF04617,PIRSF_domain:PIRSF037109,hmmpanther:PTHR24325,hmmpanther:PTHR24325:SF9,Low_complexity_(Seg):seg	homeobox A9				ENSP00000343619		2-Jan									COSM2154682	2-Jan	.		ENST00000343483	Transcript					protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000078399	g.chr7:27204781G>A	5109			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=HXA9_HUMAN&rb=1&re=193&var=A99V	NA	getma.org/?cm=var&var=hg19,7,27204781,G,A&fts=all	A99V	--	--	1																																			1	1		benign(0.043)	p.A99V	NM_152739	NP_689952		tolerated(0.12)	1	HXA9_HUMAN	HOXA9	HGNC	P31269	HXA9_HUMAN					1	369	-			UPI0000000CA4	99					SNV	HOXA9,missense_variant,p.Ala99Val,ENST00000343483,NM_152739.3;HOXA9,missense_variant,p.Ala99Val,ENST00000396345,;RP1-170O19.20,intron_variant,,ENST00000470747,;MIR196B,downstream_gene_variant,,ENST00000384852,;HOXA10-AS,upstream_gene_variant,,ENST00000519935,;HOXA10-AS,upstream_gene_variant,,ENST00000523790,;HOXA10-AS,upstream_gene_variant,,ENST00000519694,;HOXA9,intron_variant,,ENST00000497089,;HOXA9,intron_variant,,ENST00000487384,;RP1-170O19.20,intron_variant,,ENST00000465941,;HOXA9,intron_variant,,ENST00000489695,;	uc003syt.2	c.296C>T	369/2060	2	2			c.296C>T	T		NUP98|MSI2		AML*	7	SNP	c.(295-297)GCG>GTG	35	35			lung(1)|central_nervous_system(1)	2	Broad	homeobox A9			27204781		0.721	ENSG00000078399	7168	g.chr7:27204781G>A			protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			22			22	13.035815	KEEP	7	7	-1	29	15	7	7	-1	14.952965	29	15	0.222222	1	0	0	0	0	1	0	0	0	--	--		0	A				138	GBM-14-0813-TP	p.A99V	G	CGCCGCCGCCGCCACGGGCGC	NM_152739	NP_689952	27204781	P31269	HXA9_HUMAN	0			1	369	-	A	A			Missense_Mutation	99						
HOXB1	3211	broad.mit.edu	GRCh37	17	46607715	46607715	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-02-0003-01	TCGA-02-0003-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000239174.6:c.552G>T	p.Lys184Asn	p.K184N	ENST00000239174	NM_002144.3	184	aaG/aaT	0			1			A	K/N	uc002ink.1	protein_coding	YES	CCDS32675.1			552/906									ovary(1)	1	c.(550-552)AAG>AAT			hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF167	homeobox B1				ENSP00000355140		2-Jan									COSM2148898	2-Jan	.		ENST00000239174	Transcript	1			nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	ENSG00000120094	g.chr17:46607715C>A	5111			MODERATE		2.135	medium	getma.org/?cm=msa&ty=f&p=HXB1_HUMAN&rb=1&re=190&var=K184N	NA	getma.org/?cm=var&var=hg19,17,46607715,C,A&fts=all	K184N	--	--	1																																			1	1		probably_damaging(0.997)	p.K184N	NM_002144	NP_002135		deleterious(0)	1	HXB1_HUMAN	HOXB1	HGNC	P14653	HXB1_HUMAN					1	558	-			UPI0000163BFF	184			Antp-type hexapeptide.		SNV	HOXB1,missense_variant,p.Lys184Asn,ENST00000239174,NM_002144.3;HOXB1,missense_variant,p.Lys184Asn,ENST00000577092,;	uc002ink.1	c.552G>T	645/2020	2	2			c.552G>T						17	SNP	c.(550-552)AAG>AAT	20	20			ovary(1)	1	Broad	homeobox B1			46607715		0.592	ENSG00000120094	7169	g.chr17:46607715C>A		nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity							97.580983	KEEP	22	22	0.5	32	18	22	22	0.5	97.756166	32	18	0.45	1	0	0	0	0	1	0	0	0	--	--		0	A				1	GBM-02-0003-TP	p.K184N	C	TTCTCTTAACCTTCATCCAGT	NM_002144	NP_002135	46607715	P14653	HXB1_HUMAN	0			1	558	-	A	A			Missense_Mutation	184			Antp-type hexapeptide.			
HOXB13	10481	broad.mit.edu	GRCh37	17	46804366	46804366	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0192-01	TCGA-06-0192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290295.7:c.641G>A	p.Arg214His	p.R214H	ENST00000290295	NM_006361.5	214	cGt/cAt	0			1			T	R/H	uc002ioa.2	protein_coding	YES	CCDS11536.1			641/855										0	c.(640-642)CGT>CAT			PROSITE_profiles:PS50071,hmmpanther:PTHR24326:SF47,hmmpanther:PTHR24326,Gene3D:1.10.10.60,Superfamily_domains:SSF46689	homeobox B13				ENSP00000290295		2-Feb									COSM2150664	2-Feb	.		ENST00000290295	Transcript	1		angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000159184	g.chr17:46804366C>T	5112			MODERATE		2.525	medium	getma.org/?cm=msa&ty=f&p=HXB13_HUMAN&rb=124&re=216&var=R214H	NA	getma.org/?cm=var&var=hg19,17,46804366,C,T&fts=all	R214H	--	--	1																																		hsa-mir-3185|MI0014227_5'Flank	1	1		benign(0.012)	p.R214H	NM_006361	NP_006352		deleterious(0.03)	1	HXB13_HUMAN	HOXB13	HGNC	Q92826	HXB13_HUMAN					2	797	-			UPI000006F288	214					SNV	HOXB13,missense_variant,p.Arg214His,ENST00000290295,NM_006361.5;PRAC1,upstream_gene_variant,,ENST00000290294,NM_032391.2;MIR3185,upstream_gene_variant,,ENST00000583892,;PRAC2,downstream_gene_variant,,ENST00000422730,;PRAC2,downstream_gene_variant,,ENST00000432056,;	uc002ioa.2	c.641G>A	1226/3467	2	2			c.641G>A						17	SNP	c.(640-642)CGT>CAT	30	30				0	Broad	homeobox B13			46804366		0.622	ENSG00000159184	7170	g.chr17:46804366C>T	angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							58.942786	KEEP	13	17	-1	51	41	13	17	-1	64.968898	51	41	0.245098	1	0	0	0	0	1	0	0	0	--	--		0	T			hsa-mir-3185|MI0014227_5'Flank	44	GBM-06-0192-TP	p.R214H	C	GCGGCCGCGACGAAAGGCGCA	NM_006361	NP_006352	46804366	Q92826	HXB13_HUMAN	0			2	797	-	T	T			Missense_Mutation	214						
HOXB13	0	broad.mit.edu	GRCh37	17	46805737	46805737	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-14-1823-01	TCGA-14-1823-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290295.7:c.219G>T	p.Thr73=	p.T73=	ENST00000290295	NM_006361.5	73	acG/acT	0			1			A	T	uc002ioa.2	protein_coding	YES	CCDS11536.1			219/855										0	c.(217-219)ACG>ACT			hmmpanther:PTHR24326:SF47,hmmpanther:PTHR24326,Pfam_domain:PF12284	homeobox B13				ENSP00000290295		2-Jan									COSM3402974	2-Jan	.		ENST00000290295	Transcript	1		angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000159184	g.chr17:46805737C>A	5112			LOW								--	--	1																																			1	1			p.T73T	NM_006361	NP_006352			1	HXB13_HUMAN	HOXB13	HGNC	Q92826	HXB13_HUMAN					1	375	-			UPI000006F288	73					SNV	HOXB13,synonymous_variant,p.=,ENST00000290295,NM_006361.5;CTD-2377D24.4,upstream_gene_variant,,ENST00000495536,;MIR3185,upstream_gene_variant,,ENST00000583892,;PRAC2,downstream_gene_variant,,ENST00000422730,;PRAC2,downstream_gene_variant,,ENST00000432056,;	uc002ioa.2	c.219G>T	804/3467	2	2			c.219G>T						17	SNP	c.(217-219)ACG>ACT	25	25				0	Broad	homeobox B13			46805737		0.652	ENSG00000159184	7170	g.chr17:46805737C>A	angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							-10.213369	KEEP	6	5	0.454545455	93	83	6	5	0.454545455	19.154153	93	83	0.056338	1	0	0	0	0	0	0	1	0	--	--		0	A				147	GBM-14-1823-TP	p.T73T	C	GAGCTGGGGACGTCCCCTGGG	NM_006361	NP_006352	46805737	Q92826	HXB13_HUMAN	0			1	375	-	A	A			Silent	73						
HOXB3	0	broad.mit.edu	GRCh37	17	46628102	46628102	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311626.4:c.890C>T	p.Ala297Val	p.A297V	ENST00000311626	NM_002146.4	297	gCc/gTc	0			1			A	A/V	uc002inn.2	protein_coding		CCDS11528.1			890/1296										0	c.(889-891)GCC>GTC			hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF10	homeobox B3				ENSP00000308252		4-Apr									COSM3402969	4-Apr	.		ENST00000311626	Transcript			angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000120093	g.chr17:46628102G>A	5114			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=HXB3_HUMAN&rb=246&re=363&var=A297V	NA	getma.org/?cm=var&var=hg19,17,46628102,G,A&fts=all	A297V	--	--	1																																OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	HOXB3_uc010wlm.1_Missense_Mutation_p.A224V|HOXB3_uc010dbf.2_Missense_Mutation_p.A297V|HOXB3_uc010dbg.2_Missense_Mutation_p.A297V|HOXB3_uc002ino.2_Missense_Mutation_p.A297V|HOXB3_uc010wlk.1_Missense_Mutation_p.A165V|HOXB3_uc010wll.1_Missense_Mutation_p.A224V	1			benign(0.044)	p.A297V	NM_002146	NP_002137		deleterious(0.01)	1	HXB3_HUMAN	HOXB3	HGNC	P14651	HXB3_HUMAN			C9J2I3_HUMAN,B7ZAD0_HUMAN,B7Z5N8_HUMAN		2	1290	-			UPI00001AEFBF	297					SNV	HOXB3,missense_variant,p.Ala297Val,ENST00000470495,;HOXB3,missense_variant,p.Ala297Val,ENST00000311626,NM_002146.4;HOXB3,missense_variant,p.Ala297Val,ENST00000498678,;HOXB3,missense_variant,p.Ala224Val,ENST00000472863,;HOXB3,missense_variant,p.Ala224Val,ENST00000489475,;HOXB3,missense_variant,p.Ala165Val,ENST00000460160,;HOXB3,missense_variant,p.Ala297Val,ENST00000476342,;HOXB3,missense_variant,p.Ala165Val,ENST00000485909,;HOXB3,missense_variant,p.Ala163Val,ENST00000490677,;HOXB2,upstream_gene_variant,,ENST00000330070,NM_002145.3;HOXB3,downstream_gene_variant,,ENST00000465120,;HOXB3,downstream_gene_variant,,ENST00000471459,;HOXB-AS1,intron_variant,,ENST00000435312,;HOXB-AS1,intron_variant,,ENST00000502764,;HOXB-AS3,intron_variant,,ENST00000465846,;HOXB-AS1,intron_variant,,ENST00000508688,;HOXB-AS1,downstream_gene_variant,,ENST00000504972,;HOXB3,downstream_gene_variant,,ENST00000478644,;	uc002inn.2	c.890C>T	1787/2642	1	1			c.890C>T						17	SNP	c.(889-891)GCC>GTC	61	61				0	Broad	homeobox B3			46628102		0.672	ENSG00000120093	7172	g.chr17:46628102G>A	angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							-28.2839	KEEP	3	1	-1	88	70	3	1	-1	6.803763	88	70	0.027972	1	0	0	0	0	1	0	0	0	--	--		0	A	OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	HOXB3_uc010wlm.1_Missense_Mutation_p.A224V|HOXB3_uc010dbf.2_Missense_Mutation_p.A297V|HOXB3_uc010dbg.2_Missense_Mutation_p.A297V|HOXB3_uc002ino.2_Missense_Mutation_p.A297V|HOXB3_uc010wlk.1_Missense_Mutation_p.A165V|HOXB3_uc010wll.1_Missense_Mutation_p.A224V	139	GBM-14-0817-TP	p.A297V	G	ATTCTGGTGGGCTTTACCGAA	NM_002146	NP_002137	46628102	P14651	HXB3_HUMAN	0			2	1290	-	A	A			Missense_Mutation	297						
HOXB5	3215		GRCh37	17	46670992	46670992	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0240-01	TCGA-06-0240-01																				ENST00000239151.5:c.53A>G	p.Asp18Gly	p.D18G	ENST00000239151	NM_002147.3	18	gAc/gGc	0																																																																																																																																																																																																																																												
HOXB8	0	broad.mit.edu	GRCh37	17	46692020	46692020	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-14-1043-01	TCGA-14-1043-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000239144.4:c.47G>C	p.Gly16Ala	p.G16A	ENST00000239144	NM_024016.3	16	gGg/gCg	0			1			G	G/A	uc002inw.2	protein_coding	YES	CCDS11533.1			47/732										0	c.(46-48)GGG>GCG			hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF46	homeobox B8				ENSP00000239144		2-Jan									COSM3402971	2-Jan	.		ENST00000239144	Transcript				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000120068	g.chr17:46692020C>G	5119			MODERATE		1.585	low	getma.org/?cm=msa&ty=f&p=HXB8_HUMAN&rb=1&re=146&var=G16A	NA	getma.org/?cm=var&var=hg19,17,46692020,C,G&fts=all	G16A	--	--	1																																			1	1		probably_damaging(0.998)	p.G16A	NM_024016	NP_076921		tolerated(0.2)	1	HXB8_HUMAN	HOXB8	HGNC	P17481	HXB8_HUMAN			I3L221_HUMAN		1	282	-			UPI000012CF63	16					SNV	HOXB8,missense_variant,p.Gly16Ala,ENST00000239144,NM_024016.3;HOXB8,missense_variant,p.Gly16Ala,ENST00000576562,;HOXB8,missense_variant,p.Gly16Ala,ENST00000468443,;HOXB7,upstream_gene_variant,,ENST00000239165,NM_004502.3;HOXB8,upstream_gene_variant,,ENST00000498634,;HOXB7,intron_variant,,ENST00000567101,;	uc002inw.2	c.47G>C	282/1823	4	4			c.47G>C						17	SNP	c.(46-48)GGG>GCG	18	18				0	Broad	homeobox B8			46692020		0.582	ENSG00000120068	7177	g.chr17:46692020C>G		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							19.047865	KEEP	3	3	-1	3	7	3	3	-1	19.11014	3	7	0.428571	1	0	0	0	0	1	0	0	0	--	--		0	G				143	GBM-14-1043-TP	p.G16A	C	CAGGGACTCCCCGGTTTTGTA	NM_024016	NP_076921	46692020	P17481	HXB8_HUMAN	0			1	282	-	G	G			Missense_Mutation	16						
HOXC11	0	broad.mit.edu	GRCh37	12	54369092	54369092	+	synonymous_variant	Silent	SNP	C	C	T	rs141170619		TCGA-41-3392-01	TCGA-41-3392-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000546378.1:c.810C>T	p.Asn270=	p.N270=	ENST00000546378		270	aaC/aaT	0			1			T	N	uc001sem.2	protein_coding	YES	CCDS8867.1			810/915	T		NUP98		AML				ovary(1)	1	c.(808-810)AAC>AAT			Gene3D:1.10.10.60,Pfam_domain:PF00046,Prints_domain:PR00024,PROSITE_patterns:PS00027,PROSITE_profiles:PS50071,hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF172,SMART_domains:SM00389,Superfamily_domains:SSF46689	homeobox C11				ENSP00000446680		2-Feb									COSM3398859	2-Feb	.		ENST00000546378	Transcript			endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000123388	g.chr12:54369092C>T	5123			LOW								--	--	1																																			1	1			p.N270N	NM_014212	NP_055027			1	HXC11_HUMAN	HOXC11	HGNC	O43248	HXC11_HUMAN					2	926	+			UPI000012CF7D	270			Homeobox.		SNV	HOXC11,missense_variant,p.Pro272Ser,ENST00000243082,NM_014212.3;HOXC11,synonymous_variant,p.=,ENST00000546378,;HOTAIR,upstream_gene_variant,,ENST00000424518,;HOTAIR,upstream_gene_variant,,ENST00000455246,;	uc001sem.2	c.810C>T	926/3261	2	2			c.810C>T	T		NUP98		AML	12	SNP	c.(808-810)AAC>AAT	24	24			ovary(1)	1	Broad	homeobox C11			54369092		0.478	ENSG00000123388	7180	g.chr12:54369092C>T	endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			53			53	87.293681	KEEP	16	16	-1	18	42	16	16	-1	88.46386	18	42	0.373494	1	0	0	0	0	0	0	1	0	--	--		0	T				254	GBM-41-3392-TP	p.N270N	C	GGATGCTGAACCTGACGGACC	NM_014212	NP_055027	54369092	O43248	HXC11_HUMAN	0			2	926	+	T	T			Silent	270			Homeobox.			
HOXC11	0	broad.mit.edu	GRCh37	12	54367099	54367099	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01	TCGA-76-4935-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000546378.1:c.74G>A	p.Arg25Gln	p.R25Q	ENST00000546378		25	cGa/cAa	0		A:0	1	A:0		A	R/Q	uc001sem.2	protein_coding	YES	CCDS8867.1			74/915	T		NUP98		AML				ovary(1)	1	c.(73-75)CGA>CAA			hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF172	homeobox C11		A:0.001		ENSP00000446680	A:0	2-Jan	1.65E-05	9.61E-05		0.000116					rs199765463,COSM3398858	2-Jan	.		ENST00000546378	Transcript		A:0.0002	endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000123388	g.chr12:54367099G>A	5123			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=HXC11_HUMAN&rb=1&re=41&var=R25Q	NA	getma.org/?cm=var&var=hg19,12,54367099,G,A&fts=all	R25Q	--	--	1																																			0,1	1		probably_damaging(0.961)	p.R25Q	NM_014212	NP_055027	A:0	deleterious(0.02)	0,1	HXC11_HUMAN	HOXC11	HGNC	O43248	HXC11_HUMAN					1	190	+			UPI000012CF7D	25					SNV	HOXC11,missense_variant,p.Arg25Gln,ENST00000546378,;HOXC11,missense_variant,p.Arg25Gln,ENST00000243082,NM_014212.3;HOTAIR,intron_variant,,ENST00000424518,;HOTAIR,intron_variant,,ENST00000455246,;HOTAIR,upstream_gene_variant,,ENST00000439545,;	uc001sem.2	c.74G>A	190/3261	2	2			c.74G>A	T		NUP98		AML	12	SNP	c.(73-75)CGA>CAA	22	22			ovary(1)	1	Broad	homeobox C11			54367099		0.617	ENSG00000123388	7180	g.chr12:54367099G>A	endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			53			53	-17.084862	KEEP	4	3	-1	61	73	4	3	-1	11.626272	61	73	0.051852	1	0	0	0	0	1	0	0	0	--	--		0	A				273	GBM-76-4935-TP	p.R25Q	G	TTCGGCGAGCGAGGGAGCTGC	NM_014212	NP_055027	54367099	O43248	HXC11_HUMAN	0			1	190	+	A	A			Missense_Mutation	25						
HOXC11	3227		GRCh37	12	54367422	54367422	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0151-01	TCGA-06-0151-01																				ENST00000546378.1:c.397A>C	p.Thr133Pro	p.T133P	ENST00000546378		133	Acc/Ccc	0																																																																																																																																																																																																																																												
HOXC5	3222	broad.mit.edu	GRCh37	12	54427115	54427115	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-6391-01	TCGA-06-6391-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312492.2:c.209A>C	p.His70Pro	p.H70P	ENST00000312492	NM_018953.2	70	cAc/cCc	0			1			C	H/P	uc001sew.2	protein_coding	YES	CCDS8872.1			209/669										0	c.(208-210)CAC>CCC			Low_complexity_(Seg):seg,hmmpanther:PTHR24326:SF152,hmmpanther:PTHR24326	homeobox C5				ENSP00000309336		2-Jan	0.00207	0.000693	0.000186	0.00154	0.00979	0.00206	0.00277	0.000186	rs779715231,COSM548948	2-Jan	common_variant		ENST00000312492	Transcript			regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000172789	g.chr12:54427115A>C	5127			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=HXC5_HUMAN&rb=1&re=155&var=H70P	NA	getma.org/?cm=var&var=hg19,12,54427115,A,C&fts=all	H70P	--	--	1																																		HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron|MIR615_hsa-mir-615|MI0003628_5'Flank	0,1	1		benign(0.042)	p.H70P	NM_018953	NP_061826		tolerated(0.34)	0,1	HXC5_HUMAN	HOXC5	HGNC	Q00444	HXC5_HUMAN					1	284	+			UPI000012CF6F	70					SNV	HOXC5,missense_variant,p.His70Pro,ENST00000312492,NM_018953.2;HOXC4,intron_variant,,ENST00000303406,NM_014620.4;RP11-834C11.12,intron_variant,,ENST00000513209,;HOXC6,downstream_gene_variant,,ENST00000394331,NM_153693.4;HOXC6,downstream_gene_variant,,ENST00000243108,NM_004503.3;HOXC6,downstream_gene_variant,,ENST00000504315,;HOXC6,downstream_gene_variant,,ENST00000509328,;MIR615,upstream_gene_variant,,ENST00000384839,;RP11-834C11.14,intron_variant,,ENST00000512206,;HOXC4,upstream_gene_variant,,ENST00000507650,;	uc001sew.2	c.209A>C	479/1805	3	3			c.209A>C						12	SNP	c.(208-210)CAC>CCC	14	14				0	Broad	homeobox C5			54427115		0.672	ENSG00000172789	7184	g.chr12:54427115A>C	regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							0.032464	KEEP	7	24	-1	31	26	7	24	-1	6.821377	31	26	0.148148	1	0	0	0	0	1	0	0	0	--	--		0	C			HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron|MIR615_hsa-mir-615|MI0003628_5'Flank	107	GBM-06-6391-TP	p.H70P	A	CCCCGGGCTCACCCCGACCGC	NM_018953	NP_061826	54427115	Q00444	HXC5_HUMAN	0			1	284	+	C	C			Missense_Mutation	70						
HOXC9	3225		GRCh37	12	54396220	54396220	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000303450.4:c.545C>T	p.Pro182Leu	p.P182L	ENST00000303450	NM_006897.1	182	cCc/cTc	0																																																																																																																																																																																																																																												
HOXD10	3236	broad.mit.edu	GRCh37	2	176981726	176981726	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5412-01	TCGA-06-5412-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000249501.4:c.165G>A	p.Pro55=	p.P55=	ENST00000249501	NM_002148.3	55	ccG/ccA	0			1			A	P	uc002ukj.2	protein_coding	YES	CCDS2266.1			165/1023									ovary(1)	1	c.(163-165)CCG>CCA			hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF49	homeobox D10				ENSP00000249501		2-Jan									COSM208264	2-Jan	.		ENST00000249501	Transcript	1			nucleus	sequence-specific DNA binding	ENSG00000128710	g.chr2:176981726G>A	5133			LOW								--	--	1																																			1	1			p.P55P	NM_002148	NP_002139			1	HXD10_HUMAN	HOXD10	HGNC	P28358	HXD10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)			1	235	+			UPI000013CC87	55					SNV	HOXD10,synonymous_variant,p.=,ENST00000249501,NM_002148.3;HOXD-AS2,downstream_gene_variant,,ENST00000440016,;HOXD10,intron_variant,,ENST00000490088,;HOXD10,intron_variant,,ENST00000549469,;	uc002ukj.2	c.165G>A	420/1989	2	2			c.165G>A						2	SNP	c.(163-165)CCG>CCA	32	32			ovary(1)	1	Broad	homeobox D10			176981726		0.488	ENSG00000128710	7189	g.chr2:176981726G>A		nucleus	sequence-specific DNA binding			294			294	-2.201296	KEEP	1	8	-1	43	75	1	8	-1	18.699154	43	75	0.078261	1	0	0	0	0	0	0	1	0	--	--		0	A				95	GBM-06-5412-TP	p.P55P	G	GACTGCTCCCGTCTCTGGCCA	NM_002148	NP_002139	176981726	P28358	HXD10_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	1	235	+	A	A			Silent	55						
HOXD8	3234	broad.mit.edu	GRCh37	2	176996300	176996301	+	frameshift_variant	Frame_Shift_Del	DEL	AA	AA	-			TCGA-06-2569-01	TCGA-06-2569-01	AA	AA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313173.4:c.833_834del	p.Gln278ArgfsTer62	p.Q278Rfs*62	ENST00000313173	NM_019558.3	278	cAA/c	0			1			-	Q/X	uc002uko.2	protein_coding	YES	CCDS2268.1			833-834/873										0	c.(832-834)CAAfs			hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF110	homeobox D8				ENSP00000315949		2-Feb										2-Feb	.		ENST00000313173	Transcript			anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000175879	g.chr2:176996300_176996301delAA	5139			HIGH								--	--	1																																		uc002ukm.1_5'Flank|HOXD8_uc002ukn.2_Frame_Shift_Del_p.Q94fs|HOXD8_uc002ukp.2_Frame_Shift_Del_p.Q277fs		1			p.Q278fs	NM_019558	NP_062458				HXD8_HUMAN	HOXD8	HGNC	P13378	HXD8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)			2	1451_1452	+			UPI000012CF8B	278					deletion	HOXD8,frameshift_variant,p.Gln278ArgfsTer62,ENST00000313173,NM_019558.3,NM_001199746.1;HOXD8,frameshift_variant,p.Gln277ArgfsTer62,ENST00000544999,;HOXD8,frameshift_variant,p.Gln94ArgfsTer62,ENST00000429017,NM_001199747.1;HOXD8,frameshift_variant,p.Gln277ArgfsTer62,ENST00000450510,;HOXD8,frameshift_variant,p.Gln174ArgfsTer?,ENST00000548663,;HOXD-AS2,intron_variant,,ENST00000440016,;HOXD-AS2,downstream_gene_variant,,ENST00000426965,;	uc002uko.2	c.833_834delAA	1460-1461/2583	5	5			c.833_834delAA						2	DEL	c.(832-834)CAAfs	59	59				0	Broad	homeobox D8			176996301		0.426	ENSG00000175879	7195	g.chr2:176996300_176996301delAA	anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity																				0.34	1	1	0	1	0	0	0	0	0	--	--		0	-			uc002ukm.1_5'Flank|HOXD8_uc002ukn.2_Frame_Shift_Del_p.Q94fs|HOXD8_uc002ukp.2_Frame_Shift_Del_p.Q277fs	90	GBM-06-2569-TP	p.Q278fs	AA	AAGGAAGCCCAAGAGCTGGAGG	NM_019558	NP_062458	176996300	P13378	HXD8_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	2	1451_1452	+	-	-			Frame_Shift_Del	278						
HP1BP3	0	broad.mit.edu	GRCh37	1	21106920	21106921	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-41-3915-01	TCGA-41-3915-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312239.5:c.13dupA	p.Thr5AsnfsTer5	p.T5Nfs*5	ENST00000312239	NM_016287.3	5	acg/aAcg	0			1			T	T/NX	uc001bdw.1	protein_coding	YES	CCDS30621.1			13-14/1662									central_nervous_system(1)|skin(1)	2	c.(13-15)ACGfs			hmmpanther:PTHR15832,hmmpanther:PTHR15832:SF1	HP1-BP74				ENSP00000312625		13-Feb										13-Feb	.		ENST00000312239	Transcript			nucleosome assembly	nucleosome|nucleus	DNA binding	ENSG00000127483	g.chr1:21106920_21106921insT	24973			HIGH								--	--	1																																		HP1BP3_uc001bdv.1_5'UTR|HP1BP3_uc010odh.1_Intron|HP1BP3_uc001bdy.1_Frame_Shift_Ins_p.T5fs|HP1BP3_uc001bdz.2_RNA|HP1BP3_uc001bea.2_Frame_Shift_Ins_p.T5fs|HP1BP3_uc001beb.2_Frame_Shift_Ins_p.T5fs		1			p.T5fs	NM_016287	NP_057371				HP1B3_HUMAN	HP1BP3	HGNC	Q5SSJ5	HP1B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)	Q5SWC8_HUMAN,B4E0N8_HUMAN,B0QZK9_HUMAN,B0QZK8_HUMAN,B0QZK6_HUMAN,B0QZK5_HUMAN		2	153_154	-		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	UPI0000036038	5					insertion	HP1BP3,frameshift_variant,p.Thr5AsnfsTer5,ENST00000312239,NM_016287.3;HP1BP3,frameshift_variant,p.Thr5AsnfsTer5,ENST00000438032,;HP1BP3,frameshift_variant,p.Thr5AsnfsTer5,ENST00000375000,;HP1BP3,frameshift_variant,p.Thr5AsnfsTer5,ENST00000414993,;HP1BP3,frameshift_variant,p.Thr5AsnfsTer5,ENST00000417710,;HP1BP3,5_prime_UTR_variant,,ENST00000437575,;HP1BP3,intron_variant,,ENST00000424732,;HP1BP3,intron_variant,,ENST00000443615,;HP1BP3,intron_variant,,ENST00000419490,;HP1BP3,upstream_gene_variant,,ENST00000419948,;HP1BP3,non_coding_transcript_exon_variant,,ENST00000487117,;	uc001bdw.1	c.13_14insA	153-154/3938	5	5			c.13_14insA						1	INS	c.(13-15)ACGfs	46	46			central_nervous_system(1)|skin(1)	2	Broad	HP1-BP74			21106921		0.475	ENSG00000127483	7198	g.chr1:21106920_21106921insT	nucleosome assembly	nucleosome|nucleus	DNA binding																				0.45	1	0	0	1	1	0	0	0	0	--	--		0	T			HP1BP3_uc001bdv.1_5'UTR|HP1BP3_uc010odh.1_Intron|HP1BP3_uc001bdy.1_Frame_Shift_Ins_p.T5fs|HP1BP3_uc001bdz.2_RNA|HP1BP3_uc001bea.2_Frame_Shift_Ins_p.T5fs|HP1BP3_uc001beb.2_Frame_Shift_Ins_p.T5fs	256	GBM-41-3915-TP	p.T5fs	-	ACCTTGAGACGTATCAGTCGCC	NM_016287	NP_057371	21106920	Q5SSJ5	HP1B3_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)	2	153_154	-	T	T		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	Frame_Shift_Ins	5						
HP1BP3	50809		GRCh37	1	21071371	21071371	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000312239.5:c.1581T>C	p.Pro527=	p.P527=	ENST00000312239	NM_016287.3	527	ccT/ccC	0																																																																																																																																																																																																																																												
HPCA	0	broad.mit.edu	GRCh37	1	33354728	33354728	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01	TCGA-28-5219-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373467.3:c.229G>A	p.Asp77Asn	p.D77N	ENST00000373467	NM_002143.2	77	Gat/Aat	0			1			A	D/N	uc001bwh.2	protein_coding	YES	CCDS370.1			229/582									ovary(1)	1	c.(229-231)GAT>AAT			Prints_domain:PR00450,Superfamily_domains:SSF47473,SMART_domains:SM00054,Gene3D:1.10.238.10,Pfam_domain:PF00036,PROSITE_patterns:PS00018,hmmpanther:PTHR23055:SF57,hmmpanther:PTHR23055,PROSITE_profiles:PS50222	hippocalcin				ENSP00000362566		4-Feb									COSM3400686	4-Feb	.		ENST00000373467	Transcript	1				actin binding|calcium ion binding	ENSG00000121905	g.chr1:33354728G>A	5144			MODERATE		1.435	low	getma.org/?cm=msa&ty=f&p=HPCA_HUMAN&rb=44&re=112&var=D77N	getma.org/pdb.php?prot=HPCA_HUMAN&from=64&to=92&var=D77N	getma.org/?cm=var&var=hg19,1,33354728,G,A&fts=all	D77N	--	--	1																																			1	1		probably_damaging(0.995)	p.D77N	NM_002143	NP_002134		tolerated(0.26)	1	HPCA_HUMAN	HPCA	HGNC	P84074	HPCA_HUMAN					2	269	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	UPI0000022FC5	77			EF-hand 2.|1 (Potential).		SNV	HPCA,missense_variant,p.Asp77Asn,ENST00000373467,NM_002143.2;HPCA,non_coding_transcript_exon_variant,,ENST00000480118,;HPCA,intron_variant,,ENST00000459874,;HPCA,intron_variant,,ENST00000470166,;HPCA,upstream_gene_variant,,ENST00000470896,;	uc001bwh.2	c.229G>A	331/1468	1	1			c.229G>A						1	SNP	c.(229-231)GAT>AAT	52	52			ovary(1)	1	Broad	hippocalcin			33354728		0.547	ENSG00000121905	7199	g.chr1:33354728G>A			actin binding|calcium ion binding							-49.127404	KEEP	2	6	-1	145	147	2	6	-1	14.195394	145	147	0.030534	1	0	0	0	0	1	0	0	0	--	--		0	A				225	GBM-28-5219-TP	p.D77N	G	CACCAACAGCGATGGCACCAT	NM_002143	NP_002134	33354728	P84074	HPCA_HUMAN	0			2	269	+	A	A		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	Missense_Mutation	77			EF-hand 2.|1 (Potential).			
HPCAL1	3241	broad.mit.edu	GRCh37	2	10560060	10560060	+	synonymous_variant	Silent	SNP	C	C	T	rs142524922		TCGA-06-0192-01	TCGA-06-0192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381765.3:c.177C>T	p.Gly59=	p.G59=	ENST00000381765	NM_134421.2	59	ggC/ggT	0	T:0.0002		1			T	G	uc002raj.2	protein_coding		CCDS1671.1			177/582									pancreas(1)	1	c.(175-177)GGC>GGT			hmmpanther:PTHR23055:SF79,hmmpanther:PTHR23055,Gene3D:1.10.238.10,Pfam_domain:PF13499,Superfamily_domains:SSF47473	hippocalcin-like 1			T:0	ENSP00000310749		5-Mar	8.24E-06	9.67E-05							rs142524922,COSM3406739	5-Mar	.		ENST00000307845	Transcript					calcium ion binding	ENSG00000115756	g.chr2:10560060C>T	5145			LOW								--	--	1																																		HPCAL1_uc002rak.2_Silent_p.G59G|HPCAL1_uc002ral.2_Silent_p.G59G|HPCAL1_uc010exe.2_RNA|HPCAL1_uc010exf.2_Silent_p.G59G	0,1				p.G59G	NM_002149	NP_002140			0,1	HPCL1_HUMAN	HPCAL1	HGNC	P37235	HPCL1_HUMAN		Epithelial(75;0.214)	Q6FGY1_HUMAN,O75544_HUMAN,C9JW46_HUMAN		3	551	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		UPI0000167B8D	59					SNV	HPCAL1,synonymous_variant,p.=,ENST00000381765,NM_134421.2;HPCAL1,synonymous_variant,p.=,ENST00000307845,NM_002149.3,NM_001258358.1,NM_001258357.1;HPCAL1,upstream_gene_variant,,ENST00000422133,;HPCAL1,downstream_gene_variant,,ENST00000423674,;HPCAL1,synonymous_variant,p.=,ENST00000419810,;	uc002raj.2	c.177C>T	558/1751	2	2			c.177C>T						2	SNP	c.(175-177)GGC>GGT	34	34			pancreas(1)	1	Broad	hippocalcin-like 1			10560060		0.602	ENSG00000115756	7200	g.chr2:10560060C>T			calcium ion binding	Pancreas(70;1384 1800 31595 46836)			Pancreas(70;1384 1800 31595 46836)			-6.321634	KEEP	5	4	-1	76	53	5	4	-1	16.732344	76	53	0.073171	1	0	0	0	0	0	0	1	0	--	--		0	T			HPCAL1_uc002rak.2_Silent_p.G59G|HPCAL1_uc002ral.2_Silent_p.G59G|HPCAL1_uc010exe.2_RNA|HPCAL1_uc010exf.2_Silent_p.G59G	44	GBM-06-0192-TP	p.G59G	C	TCCCCTACGGCGACGCTTCCA	NM_002149	NP_002140	10560060	P37235	HPCL1_HUMAN	0		Epithelial(75;0.214)	3	551	+	T	T	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		Silent	59						
HPCAL4	0	broad.mit.edu	GRCh37	1	40149794	40149794	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01	TCGA-14-0789-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372844.3:c.193G>A	p.Ala65Thr	p.A65T	ENST00000372844	NM_016257.2	65	Gcg/Acg	0			1			T	A/T	uc001cdr.2	protein_coding	YES	CCDS441.1			193/576									central_nervous_system(1)	1	c.(193-195)GCG>ACG			Gene3D:1.10.238.10,PROSITE_profiles:PS50222,hmmpanther:PTHR23055,hmmpanther:PTHR23055:SF84,SMART_domains:SM00054,Superfamily_domains:SSF47473	hippocalcin-like protein 4				ENSP00000361935		4-Mar									COSM3400773	4-Mar	.		ENST00000372844	Transcript			central nervous system development	intracellular	calcium ion binding	ENSG00000116983	g.chr1:40149794C>T	18212			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=HPCL4_HUMAN&rb=64&re=125&var=A65T	getma.org/pdb.php?prot=HPCL4_HUMAN&from=64&to=125&var=A65T	getma.org/?cm=var&var=hg19,1,40149794,C,T&fts=all	A65T	--	--	1																																		HPCAL4_uc010oix.1_Intron	1	1		possibly_damaging(0.89)	p.A65T	NM_016257	NP_057341		deleterious(0.01)	1	HPCL4_HUMAN	HPCAL4	HGNC	Q9UM19	HPCL4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		B4DG51_HUMAN		3	313	-	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	UPI0000073F20	65			EF-hand 2.		SNV	HPCAL4,missense_variant,p.Ala65Thr,ENST00000372844,NM_016257.2,NM_001282397.1,NM_001282396.1;	uc001cdr.2	c.193G>A	585/4856	2	2			c.193G>A						1	SNP	c.(193-195)GCG>ACG	42	42			central_nervous_system(1)	1	Broad	hippocalcin-like protein 4			40149794		0.682	ENSG00000116983	7201	g.chr1:40149794C>T	central nervous system development	intracellular	calcium ion binding							74.831402	KEEP	13	14	-1	23	31	13	14	-1	76.272063	23	31	0.351351	1	0	0	0	0	1	0	0	0	--	--		0	T			HPCAL4_uc010oix.1_Intron	136	GBM-14-0789-TP	p.A65T	C	GCGTGCTGCGCGAACTTGGAG	NM_016257	NP_057341	40149794	Q9UM19	HPCL4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		3	313	-	T	T	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	Missense_Mutation	65			EF-hand 2.			
HPCAL4	0	broad.mit.edu	GRCh37	1	40150150	40150150	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-2518-01	TCGA-27-2518-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372844.3:c.126C>T	p.Ile42=	p.I42=	ENST00000372844	NM_016257.2	42	atC/atT	0			1			A	I	uc001cdr.2	protein_coding	YES	CCDS441.1			126/576									central_nervous_system(1)	1	c.(124-126)ATC>ATT			Gene3D:1.10.238.10,hmmpanther:PTHR23055,hmmpanther:PTHR23055:SF84,Superfamily_domains:SSF47473	hippocalcin-like protein 4				ENSP00000361935		4-Feb	1.65E-05					3.11E-05			rs758441133,COSM3400774	4-Feb	.		ENST00000372844	Transcript			central nervous system development	intracellular	calcium ion binding	ENSG00000116983	g.chr1:40150150G>A	18212			LOW								--	--	1																																		HPCAL4_uc010oix.1_Silent_p.I42I	0,1	1			p.I42I	NM_016257	NP_057341			0,1	HPCL4_HUMAN	HPCAL4	HGNC	Q9UM19	HPCL4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		B4DG51_HUMAN		2	246	-	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	UPI0000073F20	42			EF-hand 1.		SNV	HPCAL4,synonymous_variant,p.=,ENST00000372844,NM_016257.2,NM_001282397.1,NM_001282396.1;	uc001cdr.2	c.126C>T	518/4856	2	2			c.126C>T						1	SNP	c.(124-126)ATC>ATT	17	17			central_nervous_system(1)	1	Broad	hippocalcin-like protein 4			40150150		0.627	ENSG00000116983	7201	g.chr1:40150150G>A	central nervous system development	intracellular	calcium ion binding							11.632431	KEEP	4	4	-1	14	20	4	4	-1	15.420899	14	20	0.166667	1	0	0	0	0	0	0	1	0	--	--		0	A			HPCAL4_uc010oix.1_Silent_p.I42I	198	GBM-27-2518-TP	p.I42I	G	CCAGGTTGAGGATGCCGCTGG	NM_016257	NP_057341	40150150	Q9UM19	HPCL4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		2	246	-	A	A	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	Silent	42			EF-hand 1.			
HPGD	3248		GRCh37	4	175439163	175439163	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000296522.6:c.283A>T	p.Asn95Tyr	p.N95Y	ENST00000296522	NM_001256307.1	95	Aat/Tat	0																																																																																																																																																																																																																																												
HPS3	84343	broad.mit.edu	GRCh37	3	148868439	148868439	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0210-01	TCGA-06-0210-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296051.2:c.1217A>G	p.Glu406Gly	p.E406G	ENST00000296051	NM_032383.3	406	gAg/gGg	0			1			G	E/G	uc003ewu.1	protein_coding	YES	CCDS3140.1			1217/3015									ovary(5)|large_intestine(1)	6	c.(1216-1218)GAG>GGG			Pfam_domain:PF14762,PIRSF_domain:PIRSF037473	Hermansky-Pudlak syndrome 3 protein				ENSP00000296051		17-Jun									COSM3748216	17-Jun	.	Hermansky-Pudlak_syndrome	ENST00000296051	Transcript	1			cytoplasm		ENSG00000163755	g.chr3:148868439A>G	15597			MODERATE		1.955	medium	getma.org/?cm=msa&ty=f&p=HPS3_HUMAN&rb=1&re=591&var=E406G	NA	getma.org/?cm=var&var=hg19,3,148868439,A,G&fts=all	E406G	--	--	1																																		HPS3_uc003ewt.1_Missense_Mutation_p.E406G|HPS3_uc011bnq.1_Missense_Mutation_p.E241G	1	1		benign(0.002)	p.E406G	NM_032383	NP_115759		deleterious(0.03)	1	HPS3_HUMAN	HPS3	HGNC	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Q8N3N1_HUMAN		6	1357	+			UPI000000D989	406					SNV	HPS3,missense_variant,p.Glu406Gly,ENST00000296051,NM_032383.3;HPS3,missense_variant,p.Glu241Gly,ENST00000460120,;HPS3,non_coding_transcript_exon_variant,,ENST00000462030,;HPS3,non_coding_transcript_exon_variant,,ENST00000486530,;	uc003ewu.1	c.1217A>G	1357/4665	4	4			c.1217A>G						3	SNP	c.(1216-1218)GAG>GGG	28	28			ovary(5)|large_intestine(1)	6	Broad	Hermansky-Pudlak syndrome 3 protein			148868439	Hermansky-Pudlak_syndrome	0.512	ENSG00000163755	7210	g.chr3:148868439A>G		cytoplasm								-43.079391	KEEP	2	3	-1	92	125	2	3	-1	6.459421	92	125	0.016043	1	0	0	0	0	1	0	0	0	--	--		0	G			HPS3_uc003ewt.1_Missense_Mutation_p.E406G|HPS3_uc011bnq.1_Missense_Mutation_p.E241G	47	GBM-06-0210-TP	p.E406G	A	GCTCGTGAGGAGGACCCGTAC	NM_032383	NP_115759	148868439	Q969F9	HPS3_HUMAN	0	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		6	1357	+	G	G			Missense_Mutation	406						
HPS4	89781		GRCh37	22	26860320	26860320	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000398145.2:c.1276C>T	p.Arg426Cys	p.R426C	ENST00000398145	NM_022081.5	426	Cgc/Tgc	0																																																																																																																																																																																																																																												
HPS6	79803	broad.mit.edu	GRCh37	10	103827534	103827534	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01	TCGA-06-0124-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299238.5:c.2303C>T	p.Pro768Leu	p.P768L	ENST00000299238	NM_024747.5	768	cCc/cTc	0			1			T	P/L	uc001kuj.2	protein_coding	YES	CCDS7527.1			2303/2328										0	c.(2302-2304)CCC>CTC			Low_complexity_(Seg):seg,hmmpanther:PTHR14696:SF1,hmmpanther:PTHR14696,PIRSF_domain:PIRSF037476	Hermansky-Pudlak syndrome-6				ENSP00000299238		1-Jan									COSM2149299	1-Jan	.	Hermansky-Pudlak_syndrome	ENST00000299238	Transcript	1			cytosol|early endosome membrane|endoplasmic reticulum|microsome		ENSG00000166189	g.chr10:103827534C>T	18817			MODERATE		2.095	medium	getma.org/?cm=msa&ty=f&p=HPS6_HUMAN&rb=1&re=771&var=P768L	NA	getma.org/?cm=var&var=hg19,10,103827534,C,T&fts=all	P768L	--	--	1																																			1	1		possibly_damaging(0.851)	p.P768L	NM_024747	NP_079023		deleterious(0)	1	HPS6_HUMAN	HPS6	HGNC	Q86YV9	HPS6_HUMAN		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)			1	2388	+		Colorectal(252;0.122)	UPI000000D7EB	768					SNV	HPS6,missense_variant,p.Pro768Leu,ENST00000299238,NM_024747.5;	uc001kuj.2	c.2303C>T	2388/2646	1	1			c.2303C>T						10	SNP	c.(2302-2304)CCC>CTC	2	2				0	Broad	Hermansky-Pudlak syndrome-6			103827534	Hermansky-Pudlak_syndrome	0.592	ENSG00000166189	7213	g.chr10:103827534C>T		cytosol|early endosome membrane|endoplasmic reticulum|microsome								47.663266	KEEP	14	7	-1	36	38	14	7	-1	52.564855	36	38	0.243902	1	0	0	0	0	1	0	0	0	--	--		0	T				11	GBM-06-0124-TP	p.P768L	C	AGCACTCCACCCCCGACTCCA	NM_024747	NP_079023	103827534	Q86YV9	HPS6_HUMAN	0		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)	1	2388	+	T	T		Colorectal(252;0.122)	Missense_Mutation	768						
HPS6	0	broad.mit.edu	GRCh37	10	103825336	103825336	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-26-1439-01	TCGA-26-1439-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299238.5:c.105T>C	p.Arg35=	p.R35=	ENST00000299238	NM_024747.5	35	cgT/cgC	0		C:0	1	C:0		C	R	uc001kuj.2	protein_coding	YES	CCDS7527.1			105/2328										0	c.(103-105)CGT>CGC			hmmpanther:PTHR14696:SF1,hmmpanther:PTHR14696,PIRSF_domain:PIRSF037476	Hermansky-Pudlak syndrome-6		C:0		ENSP00000299238	C:0	1-Jan	0.000787					0.000114		0.00776	rs573488604,COSM3396883	1-Jan	common_variant	Hermansky-Pudlak_syndrome	ENST00000299238	Transcript	1	C:0.0016		cytosol|early endosome membrane|endoplasmic reticulum|microsome		ENSG00000166189	g.chr10:103825336T>C	18817			LOW								--	--	1																																			0,1	1			p.R35R	NM_024747	NP_079023	C:0.0082		0,1	HPS6_HUMAN	HPS6	HGNC	Q86YV9	HPS6_HUMAN		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)			1	190	+		Colorectal(252;0.122)	UPI000000D7EB	35					SNV	HPS6,synonymous_variant,p.=,ENST00000299238,NM_024747.5;	uc001kuj.2	c.105T>C	190/2646	4	4			c.105T>C						10	SNP	c.(103-105)CGT>CGC	35	35				0	Broad	Hermansky-Pudlak syndrome-6			103825336	Hermansky-Pudlak_syndrome	0.756	ENSG00000166189	7213	g.chr10:103825336T>C		cytosol|early endosome membrane|endoplasmic reticulum|microsome								6.94953	KEEP	0	2	-1	1	3	0	2	-1	7.096369	1	3	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	C				179	GBM-26-1439-TP	p.R35R	T	TCCGAGTCCGTGGCAGTCCGG	NM_024747	NP_079023	103825336	Q86YV9	HPS6_HUMAN	0		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)	1	190	+	C	C		Colorectal(252;0.122)	Silent	35						
HPSE	10855	broad.mit.edu	GRCh37	4	84223361	84223361	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs138550346		TCGA-06-0237-01	TCGA-06-0237-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000405413.2:c.1267G>A	p.Val423Met	p.V423M	ENST00000405413	NM_006665.5	423	Gtg/Atg	0	T:0.0005		1			T	V/M	uc003hoj.3	protein_coding		CCDS3602.1			1267/1632									ovary(1)	1	c.(1267-1269)GTG>ATG			hmmpanther:PTHR14363,hmmpanther:PTHR14363:SF10	heparanase precursor	Heparin(DB01109)		T:0	ENSP00000308107		12-Oct	5.77E-05	0.00048				3.00E-05			rs138550346,COSM2151073	12-Oct	common_variant		ENST00000311412	Transcript			carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding	ENSG00000173083	g.chr4:84223361C>T	5164			MODERATE		2.77	medium	getma.org/?cm=msa&ty=f&p=HPSE_HUMAN&rb=371&re=543&var=V423M	NA	getma.org/?cm=var&var=hg19,4,84223361,C,T&fts=all	V423M	--	--	1																																		HPSE_uc010ika.2_Missense_Mutation_p.V365M|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_Missense_Mutation_p.V166M|HPSE_uc011cct.1_Missense_Mutation_p.V349M|HPSE_uc003hok.3_Missense_Mutation_p.V423M	0,1			possibly_damaging(0.894)	p.V423M	NM_001098540	NP_001092010		deleterious(0)	0,1	HPSE_HUMAN	HPSE	HGNC	Q9Y251	HPSE_HUMAN		COAD - Colon adenocarcinoma(81;0.141)			10	1366	-		Hepatocellular(203;0.114)	UPI000013F168	423					SNV	HPSE,missense_variant,p.Val423Met,ENST00000405413,NM_006665.5;HPSE,missense_variant,p.Val423Met,ENST00000311412,NM_001098540.2;HPSE,missense_variant,p.Val349Met,ENST00000512196,NM_001166498.2;HPSE,missense_variant,p.Val365Met,ENST00000513463,NM_001199830.1;HPSE,3_prime_UTR_variant,,ENST00000509906,;HPSE,3_prime_UTR_variant,,ENST00000507150,;HPSE,3_prime_UTR_variant,,ENST00000508891,;	uc003hoj.3	c.1267G>A	1367/4615	2	2			c.1267G>A						4	SNP	c.(1267-1269)GTG>ATG	34	34			ovary(1)	1	Broad	heparanase precursor		Heparin(DB01109)	84223361		0.408	ENSG00000173083	7214	g.chr4:84223361C>T	carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding							180.700894	KEEP	32	28	-1	37	52	32	28	-1	181.654667	37	52	0.412587	1	0	0	0	0	1	0	0	0	--	--		0	T			HPSE_uc010ika.2_Missense_Mutation_p.V365M|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_Missense_Mutation_p.V166M|HPSE_uc011cct.1_Missense_Mutation_p.V349M|HPSE_uc003hok.3_Missense_Mutation_p.V423M	54	GBM-06-0237-TP	p.V423M	C	GAACCTTGCACGCTTGCCATT	NM_001098540	NP_001092010	84223361	Q9Y251	HPSE_HUMAN	0		COAD - Colon adenocarcinoma(81;0.141)	10	1366	-	T	T		Hepatocellular(203;0.114)	Missense_Mutation	423						
HPSE	0	broad.mit.edu	GRCh37	4	84223384	84223384	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01	TCGA-14-0790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311412.5:c.1244G>A	p.Gly415Asp	p.G415D	ENST00000311412	NM_001098540.2	415	gGc/gAc	0			1			T	G/D	uc003hoj.3	protein_coding		CCDS3602.1			1244/1632									ovary(1)	1	c.(1243-1245)GGC>GAC			hmmpanther:PTHR14363,hmmpanther:PTHR14363:SF10	heparanase precursor	Heparin(DB01109)			ENSP00000308107		12-Oct									COSM3748279	12-Oct	.		ENST00000311412	Transcript			carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding	ENSG00000173083	g.chr4:84223384C>T	5164			MODERATE		3.38	medium	getma.org/?cm=msa&ty=f&p=HPSE_HUMAN&rb=371&re=543&var=G415D	NA	getma.org/?cm=var&var=hg19,4,84223384,C,T&fts=all	G415D	--	--	1																																		HPSE_uc010ika.2_Missense_Mutation_p.G357D|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_Missense_Mutation_p.G158D|HPSE_uc011cct.1_Missense_Mutation_p.G341D|HPSE_uc003hok.3_Missense_Mutation_p.G415D	1			probably_damaging(0.999)	p.G415D	NM_001098540	NP_001092010		deleterious(0)	1	HPSE_HUMAN	HPSE	HGNC	Q9Y251	HPSE_HUMAN		COAD - Colon adenocarcinoma(81;0.141)			10	1343	-		Hepatocellular(203;0.114)	UPI000013F168	415					SNV	HPSE,missense_variant,p.Gly415Asp,ENST00000405413,NM_006665.5;HPSE,missense_variant,p.Gly415Asp,ENST00000311412,NM_001098540.2;HPSE,missense_variant,p.Gly341Asp,ENST00000512196,NM_001166498.2;HPSE,missense_variant,p.Gly357Asp,ENST00000513463,NM_001199830.1;HPSE,missense_variant,p.Ala377Thr,ENST00000509906,;HPSE,3_prime_UTR_variant,,ENST00000507150,;HPSE,3_prime_UTR_variant,,ENST00000508891,;	uc003hoj.3	c.1244G>A	1344/4615	2	2			c.1244G>A						4	SNP	c.(1243-1245)GGC>GAC	25	25			ovary(1)	1	Broad	heparanase precursor		Heparin(DB01109)	84223384		0.403	ENSG00000173083	7214	g.chr4:84223384C>T	carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding							274.162439	KEEP	52	46	-1	47	43	52	46	-1	274.193283	47	43	0.514451	1	0	0	0	0	1	0	0	0	--	--		0	T			HPSE_uc010ika.2_Missense_Mutation_p.G357D|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_Missense_Mutation_p.G158D|HPSE_uc011cct.1_Missense_Mutation_p.G341D|HPSE_uc003hok.3_Missense_Mutation_p.G415D	137	GBM-14-0790-TP	p.G415D	C	CACCTTGGTGCCCACCAATTT	NM_001098540	NP_001092010	84223384	Q9Y251	HPSE_HUMAN	0		COAD - Colon adenocarcinoma(81;0.141)	10	1343	-	T	T		Hepatocellular(203;0.114)	Missense_Mutation	415						
HPSE2	0	broad.mit.edu	GRCh37	10	100374687	100374687	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370552.3:c.1294G>A	p.Val432Met	p.V432M	ENST00000370552	NM_021828.4	432	Gtg/Atg	0			1			T	V/M	uc001kpn.1	protein_coding	YES	CCDS7477.1			1294/1779									ovary(1)	1	c.(1294-1296)GTG>ATG			Gene3D:3.20.20.80,hmmpanther:PTHR14363,hmmpanther:PTHR14363:SF2,Superfamily_domains:SSF51445	heparanase 2				ENSP00000359583		12-Sep	1.65E-05					1.50E-05		6.06E-05	rs775572245,COSM3396859,COSM3396860	12-Sep	.		ENST00000370552	Transcript	1		carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	ENSG00000172987	g.chr10:100374687C>T	18374			MODERATE		1.62	low	getma.org/?cm=msa&ty=f&p=HPSE2_HUMAN&rb=409&re=592&var=V432M	NA	getma.org/?cm=var&var=hg19,10,100374687,C,T&fts=all	V432M	--	--	1																																		HPSE2_uc009xwc.1_Missense_Mutation_p.V422M|HPSE2_uc001kpo.1_Missense_Mutation_p.V364M|HPSE2_uc009xwd.1_Missense_Mutation_p.V310M	0,1,1	1		possibly_damaging(0.748)	p.V432M	NM_021828	NP_068600		deleterious(0.02)	0,1,1	HPSE2_HUMAN	HPSE2	HGNC	Q8WWQ2	HPSE2_HUMAN		Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)			9	1354	-			UPI00001AEEC0	432					SNV	HPSE2,missense_variant,p.Val432Met,ENST00000370552,NM_021828.4;HPSE2,missense_variant,p.Val374Met,ENST00000370549,NM_001166244.1;HPSE2,missense_variant,p.Val432Met,ENST00000370546,NM_001166246.1;HPSE2,missense_variant,p.Val320Met,ENST00000404542,NM_001166245.1;	uc001kpn.1	c.1294G>A	1354/2295	1	1			c.1294G>A						10	SNP	c.(1294-1296)GTG>ATG	15	15			ovary(1)	1	Broad	heparanase 2			100374687		0.418	ENSG00000172987	7215	g.chr10:100374687C>T	carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity							-18.6033	KEEP	6	2	-1	72	83	6	2	-1	13.429811	72	83	0.047619	1	0	0	0	0	1	0	0	0	--	--		0	T			HPSE2_uc009xwc.1_Missense_Mutation_p.V422M|HPSE2_uc001kpo.1_Missense_Mutation_p.V364M|HPSE2_uc009xwd.1_Missense_Mutation_p.V310M	229	GBM-32-1977-TP	p.V432M	C	TTCTGGTCCACGAGGTGATTG	NM_021828	NP_068600	100374687	Q8WWQ2	HPSE2_HUMAN	0		Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)	9	1354	-	T	T			Missense_Mutation	432						
HPSE2	0	broad.mit.edu	GRCh37	10	100249866	100249866	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-41-3392-01	TCGA-41-3392-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370552.3:c.1408C>A	p.Pro470Thr	p.P470T	ENST00000370552	NM_021828.4	470	Cct/Act	0			1			T	P/T	uc001kpn.1	protein_coding	YES	CCDS7477.1			1408/1779									ovary(1)	1	c.(1408-1410)CCT>ACT			hmmpanther:PTHR14363,hmmpanther:PTHR14363:SF2	heparanase 2				ENSP00000359583		12-Oct									COSM3396857,COSM3396858	12-Oct	.		ENST00000370552	Transcript	1		carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	ENSG00000172987	g.chr10:100249866G>T	18374			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=HPSE2_HUMAN&rb=409&re=592&var=P470T	NA	getma.org/?cm=var&var=hg19,10,100249866,G,T&fts=all	P470T	--	--	1																																		HPSE2_uc009xwc.1_Missense_Mutation_p.P460T|HPSE2_uc001kpo.1_Missense_Mutation_p.P402T|HPSE2_uc009xwd.1_Missense_Mutation_p.P348T	1,1	1		probably_damaging(0.998)	p.P470T	NM_021828	NP_068600		tolerated(0.07)	1,1	HPSE2_HUMAN	HPSE2	HGNC	Q8WWQ2	HPSE2_HUMAN		Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)			10	1468	-			UPI00001AEEC0	470					SNV	HPSE2,missense_variant,p.Pro470Thr,ENST00000370552,NM_021828.4;HPSE2,missense_variant,p.Pro412Thr,ENST00000370549,NM_001166244.1;HPSE2,missense_variant,p.Pro470Thr,ENST00000370546,NM_001166246.1;HPSE2,missense_variant,p.Pro358Thr,ENST00000404542,NM_001166245.1;	uc001kpn.1	c.1408C>A	1468/2295	2	2			c.1408C>A						10	SNP	c.(1408-1410)CCT>ACT	33	33			ovary(1)	1	Broad	heparanase 2			100249866		0.562	ENSG00000172987	7215	g.chr10:100249866G>T	carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity							25.347422	KEEP	10	9	0.526315789	34	35	10	9	0.526315789	32.221427	34	35	0.186667	1	0	0	0	0	1	0	0	0	--	--		0	T			HPSE2_uc009xwc.1_Missense_Mutation_p.P460T|HPSE2_uc001kpo.1_Missense_Mutation_p.P402T|HPSE2_uc009xwd.1_Missense_Mutation_p.P348T	254	GBM-41-3392-TP	p.P470T	G	ACTCGGCCAGGCCGTGGCTTC	NM_021828	NP_068600	100249866	Q8WWQ2	HPSE2_HUMAN	0		Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)	10	1468	-	T	T			Missense_Mutation	470						
HPX	3263		GRCh37	11	6462111	6462111	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000265983.3:c.83C>T	p.Pro28Leu	p.P28L	ENST00000265983	NM_000613.2	28	cCg/cTg	0																																																																																																																																																																																																																																												
HR	0	broad.mit.edu	GRCh37	8	21983183	21983183	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-27-1834-01	TCGA-27-1834-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381418.4:c.1468C>A	p.Leu490Ile	p.L490I	ENST00000381418	NM_005144.4	490	Ctc/Atc	0			1			T	L/I	uc003xas.2	protein_coding	YES	CCDS6022.1			1468/3570									large_intestine(1)|ovary(1)	2	c.(1468-1470)CTC>ATC			hmmpanther:PTHR12549:SF4,hmmpanther:PTHR12549	hairless protein isoform a				ENSP00000370826		19-Apr									COSM3412910	19-Apr	.		ENST00000381418	Transcript	1				DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	ENSG00000168453	g.chr8:21983183G>T	5172			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=HAIR_HUMAN&rb=476&re=675&var=L490I	NA	getma.org/?cm=var&var=hg19,8,21983183,G,T&fts=all	L490I	--	--	1																																		HR_uc003xat.2_Missense_Mutation_p.L490I	1	1		benign(0.15)	p.L490I	NM_005144	NP_005135		tolerated(0.42)	1	HAIR_HUMAN	HR	HGNC	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	E5RK80_HUMAN		4	2133	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	UPI000013EB0B	490					SNV	HR,missense_variant,p.Leu490Ile,ENST00000381418,NM_005144.4;HR,missense_variant,p.Leu490Ile,ENST00000312841,NM_018411.4;HR,upstream_gene_variant,,ENST00000517699,;HR,downstream_gene_variant,,ENST00000518377,;HR,downstream_gene_variant,,ENST00000519619,;HR,downstream_gene_variant,,ENST00000522759,;HR,upstream_gene_variant,,ENST00000518461,;	uc003xas.2	c.1468C>A	2949/6336	2	2			c.1468C>A						8	SNP	c.(1468-1470)CTC>ATC	22	22			large_intestine(1)|ovary(1)	2	Broad	hairless protein isoform a			21983183		0.602	ENSG00000168453	7217	g.chr8:21983183G>T			DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity							10.592406	KEEP	2	5	0.285714286	23	21	2	5	0.285714286	16.15232	23	21	0.148936	1	0	0	0	0	1	0	0	0	--	--		0	T			HR_uc003xat.2_Missense_Mutation_p.L490I	193	GBM-27-1834-TP	p.L490I	G	TTTGCAGGGAGAGCCAGGCAT	NM_005144	NP_005135	21983183	O43593	HAIR_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	4	2133	-	T	T		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	Missense_Mutation	490						
HRASLS5	0	broad.mit.edu	GRCh37	11	63257740	63257740	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-26-1442-01	TCGA-26-1442-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301790.4:c.244G>C	p.Glu82Gln	p.E82Q	ENST00000301790		82	Gaa/Caa	0			1			G	E/Q	uc001nwy.2	protein_coding	YES	CCDS8044.1			244/840									ovary(1)	1	c.(244-246)GAA>CAA				HRAS-like suppressor family, member 5 isoform 1				ENSP00000301790		6-Feb									COSM3398008	6-Feb	.		ENST00000301790	Transcript						ENSG00000168004	g.chr11:63257740C>G	24978			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=HRSL5_HUMAN&rb=33&re=122&var=E82Q	NA	getma.org/?cm=var&var=hg19,11,63257740,C,G&fts=all	E82Q	--	--	1																																		HRASLS5_uc001nwz.2_Missense_Mutation_p.E72Q|HRASLS5_uc010rmq.1_Missense_Mutation_p.E82Q|HRASLS5_uc009yos.2_RNA	1	1		possibly_damaging(0.886)	p.E82Q	NM_054108	NP_473449		tolerated_low_confidence(0.05)	1	HRSL5_HUMAN	HRASLS5	HGNC	Q96KN8	HRSL5_HUMAN			F5H4Q3_HUMAN		2	418	-			UPI000013E758	82					SNV	HRASLS5,missense_variant,p.Glu72Gln,ENST00000540857,NM_001146729.1,NM_001146728.1,NM_054108.3;HRASLS5,missense_variant,p.Glu82Gln,ENST00000539221,;HRASLS5,missense_variant,p.Glu82Gln,ENST00000301790,;HRASLS5,5_prime_UTR_variant,,ENST00000538712,;HRASLS5,missense_variant,p.Glu41Gln,ENST00000536887,;HRASLS5,intron_variant,,ENST00000394615,;	uc001nwy.2	c.244G>C	404/1166	3	3			c.244G>C						11	SNP	c.(244-246)GAA>CAA	11	11			ovary(1)	1	Broad	HRAS-like suppressor family, member 5 isoform 1			63257740		0.498	ENSG00000168004	7221	g.chr11:63257740C>G										-89.351542	KEEP	2	11	-1	206	280	2	11	-1	23.329411	206	280	0.024499	1	0	0	0	0	1	0	0	0	--	--		0	G			HRASLS5_uc001nwz.2_Missense_Mutation_p.E72Q|HRASLS5_uc010rmq.1_Missense_Mutation_p.E82Q|HRASLS5_uc009yos.2_RNA	180	GBM-26-1442-TP	p.E82Q	C	CTGCCCTGTTCTAATGTGCCC	NM_054108	NP_473449	63257740	Q96KN8	HRSL5_HUMAN	0			2	418	-	G	G			Missense_Mutation	82						
HRCT1	0	broad.mit.edu	GRCh37	9	35906348	35906350	+	inframe_deletion	In_Frame_Del	DEL	CTG	CTG	-			TCGA-14-1043-01	TCGA-14-1043-01	CTG	CTG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354323.2:c.82_84delCTG	p.Leu28del	p.L28del	ENST00000354323	NM_001039792.1	22	CTG/-	0	-:0.0873		1			-	L/-	uc003zyr.1	protein_coding	YES	CCDS35012.1			64-66/348										0	c.(64-66)CTGdel			hmmpanther:PTHR23009,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	histidine rich carboxyl terminus 1			-:0.0907	ENSP00000346283		1-Jan									rs370606246,COSM1490012	1-Jan	.		ENST00000354323	Transcript				integral to membrane		ENSG00000196196	g.chr9:35906348_35906350delCTG	33872	18		MODERATE								--	--	1																																			0,1	1			p.L28del	NM_001039792	NP_001034881			0,1	HRCT1_HUMAN	HRCT1	HGNC	Q6UXD1	HRCT1_HUMAN					1	160_162	+			UPI0000048EC9	28			Helical; (Potential).		deletion	HRCT1,inframe_deletion,p.Leu28del,ENST00000354323,NM_001039792.1;LINC00961,upstream_gene_variant,,ENST00000443779,;	uc003zyr.1	c.64_66delCTG	160-162/950	5	5			c.64_66delCTG						9	DEL	c.(64-66)CTGdel	1	1				0	Broad	histidine rich carboxyl terminus 1			35906350		0.601	ENSG00000196196	7223	g.chr9:35906348_35906350delCTG		integral to membrane																					0.19	1	1	0	1	0	0	0	0	0	--	--		0	-				143	GBM-14-1043-TP	p.L28del	CTG	TGTGGCGGTCctgctgctgctgc	NM_001039792	NP_001034881	35906348	Q6UXD1	HRCT1_HUMAN	0			1	160_162	+	-	-			In_Frame_Del	28			Helical; (Potential).			
HRG	0	broad.mit.edu	GRCh37	3	186390618	186390618	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140916341		TCGA-28-5204-01	TCGA-28-5204-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000232003.4:c.601C>T	p.Arg201Trp	p.R201W	ENST00000232003	NM_000412.2	201	Cgg/Tgg	0	T:0		1			T	R/W	uc003fqq.2	protein_coding	YES	CCDS3280.1			601/1578									ovary(1)|central_nervous_system(1)	2	c.(601-603)CGG>TGG			hmmpanther:PTHR13814,hmmpanther:PTHR13814:SF3,SMART_domains:SM00043,Superfamily_domains:SSF54403	histidine-rich glycoprotein precursor			T:0.0006	ENSP00000232003		7-May	0.000247	9.63E-05				0.000435			rs140916341,COSM3408499	7-May	common_variant		ENST00000232003	Transcript	1		fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	ENSG00000113905	g.chr3:186390618C>T	5181			MODERATE		1.895	low	getma.org/?cm=msa&ty=f&p=HRG_HUMAN&rb=137&re=254&var=R201W	NA	getma.org/?cm=var&var=hg19,3,186390618,C,T&fts=all	R201W	--	--	1																																			0,1	1		possibly_damaging(0.689)	p.R201W	NM_000412	NP_000403		deleterious(0)	0,1	HRG_HUMAN	HRG	HGNC	P04196	HRG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)			5	624	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		UPI000012CBC3	201			Cystatin 2.		SNV	HRG,missense_variant,p.Arg201Trp,ENST00000232003,NM_000412.2;HRG,non_coding_transcript_exon_variant,,ENST00000495413,;	uc003fqq.2	c.601C>T	681/2015	2	2			c.601C>T						3	SNP	c.(601-603)CGG>TGG	18	18			ovary(1)|central_nervous_system(1)	2	Broad	histidine-rich glycoprotein precursor			186390618		0.403	ENSG00000113905	7224	g.chr3:186390618C>T	fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding							116.272315	KEEP	40	15	-1	36	41	40	15	-1	116.750629	36	41	0.427184	1	0	0	0	0	1	0	0	0	--	--		0	T				215	GBM-28-5204-TP	p.R201W	C	CTTCTCTGTGCGGAACTGCCC	NM_000412	NP_000403	186390618	P04196	HRG_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)	5	624	+	T	T	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		Missense_Mutation	201			Cystatin 2.			
HRH2	3274	broad.mit.edu	GRCh37	5	175110363	175110363	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0033-01	TCGA-02-0033-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377291.2:c.127G>A	p.Val43Met	p.V43M	ENST00000377291	NM_001131055.1	43	Gtg/Atg	0			1			A	V/M	uc003mdd.2	protein_coding		CCDS4395.1			127/1080									ovary(1)	1	c.(127-129)GTG>ATG			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF222,Superfamily_domains:SSF81321	histamine receptor H2 isoform 2	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)			ENSP00000231683		1-Jan									COSM3410154,COSM3410153	1-Jan	.		ENST00000231683	Transcript			G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	ENSG00000113749	g.chr5:175110363G>A	5183			MODERATE		3.78	high	getma.org/?cm=msa&ty=f&p=HRH2_HUMAN&rb=35&re=288&var=V43M	getma.org/pdb.php?prot=HRH2_HUMAN&from=35&to=288&var=V43M	getma.org/?cm=var&var=hg19,5,175110363,G,A&fts=all	V43M	--	--	1																																		HRH2_uc003mdc.3_Missense_Mutation_p.V43M	1,1			probably_damaging(1)	p.V43M	NM_022304	NP_071640		deleterious(0)	1,1	HRH2_HUMAN	HRH2	HGNC	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)			1	1900	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	UPI00000007CC	43			Helical; Name=1; (Potential).		SNV	HRH2,missense_variant,p.Val43Met,ENST00000231683,NM_022304.2;HRH2,missense_variant,p.Val43Met,ENST00000377291,NM_001131055.1;	uc003mdd.2	c.127G>A	1900/3095	2	2			c.127G>A						5	SNP	c.(127-129)GTG>ATG	32	32			ovary(1)	1	Broad	histamine receptor H2 isoform 2		Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	175110363		0.587	ENSG00000113749	7226	g.chr5:175110363G>A	G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity							114.568725	KEEP	26	41	-1	139	147	26	41	-1	138.95072	139	147	0.195035	1	0	0	0	0	1	0	0	0	--	--		0	A			HRH2_uc003mdc.3_Missense_Mutation_p.V43M	2	GBM-02-0033-TP	p.V43M	G	CTGTCTGGCCGTGGGCTTGAA	NM_022304	NP_071640	175110363	P25021	HRH2_HUMAN	0	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	1900	+	A	A	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Missense_Mutation	43			Helical; Name=1; (Potential).			
HRH2	3274	broad.mit.edu	GRCh37	5	175110333	175110333	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377291.2:c.97G>A	p.Val33Ile	p.V33I	ENST00000377291	NM_001131055.1	33	Gtt/Att	0	A:0.0002		1			A	V/I	uc003mdd.2	protein_coding		CCDS4395.1			97/1080									ovary(1)	1	c.(97-99)GTT>ATT			Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF222,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	histamine receptor H2 isoform 2	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)		A:0	ENSP00000231683		1-Jan	0.000165		8.64E-05	0.000116				0.00109	rs372317500,COSM3410152,COSM3410151	1-Jan	common_variant		ENST00000231683	Transcript			G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	ENSG00000113749	g.chr5:175110333G>A	5183			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=HRH2_HUMAN&rb=1&re=34&var=V33I	NA	getma.org/?cm=var&var=hg19,5,175110333,G,A&fts=all	V33I	--	--	1																																		HRH2_uc003mdc.3_Missense_Mutation_p.V33I	0,1,1			benign(0.001)	p.V33I	NM_022304	NP_071640		tolerated(1)	0,1,1	HRH2_HUMAN	HRH2	HGNC	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)			1	1870	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	UPI00000007CC	33			Helical; Name=1; (Potential).		SNV	HRH2,missense_variant,p.Val33Ile,ENST00000231683,NM_022304.2;HRH2,missense_variant,p.Val33Ile,ENST00000377291,NM_001131055.1;	uc003mdd.2	c.97G>A	1870/3095	2	2			c.97G>A						5	SNP	c.(97-99)GTT>ATT	22	22			ovary(1)	1	Broad	histamine receptor H2 isoform 2		Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	175110333		0.572	ENSG00000113749	7226	g.chr5:175110333G>A	G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity							343.28424	KEEP	76	66	-1	170	127	76	66	-1	353.16681	170	127	0.32987	1	0	0	0	0	1	0	0	0	--	--		0	A			HRH2_uc003mdc.3_Missense_Mutation_p.V33I	8	GBM-02-2486-TP	p.V33I	G	CCTCATCACCGTTGCTGGCAA	NM_022304	NP_071640	175110333	P25021	HRH2_HUMAN	0	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	1870	+	A	A	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Missense_Mutation	33			Helical; Name=1; (Potential).			
HRH3	11255		GRCh37	20	60793588	60793588	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000340177.5:c.376G>A	p.Val126Met	p.V126M	ENST00000340177	NM_007232.2	126	Gtg/Atg	0																																																																																																																																																																																																																																												
HRH3	11255		GRCh37	20	60791534	60791534	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000340177.5:c.866C>T	p.Ala289Val	p.A289V	ENST00000340177	NM_007232.2	289	gCg/gTg	0																																																																																																																																																																																																																																												
HRNR	388697	broad.mit.edu	GRCh37	1	152188002	152188002	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0169-01	TCGA-06-0169-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368801.2:c.6103A>G	p.Ser2035Gly	p.S2035G	ENST00000368801	NM_001009931.2	2035	Agc/Ggc	0			1			C	S/G	uc001ezt.1	protein_coding	YES	CCDS30859.1			6103/8553									skin(2)|ovary(1)	3	c.(6103-6105)AGC>GGC			Low_complexity_(Seg):seg	hornerin				ENSP00000357791		3-Mar	4.30E-05		0.000352			3.27E-05			rs779825418,COSM3747791	3-Mar	.		ENST00000368801	Transcript			keratinization		calcium ion binding|protein binding	ENSG00000197915	g.chr1:152188002T>C	20846			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=HORN_HUMAN&rb=161&re=2805&var=S2035G	NA	getma.org/?cm=var&var=hg19,1,152188002,T,C&fts=all	S2035G	--	--	1																																			0,1	1		unknown(0)	p.S2035G	NM_001009931	NP_001009931			0,1	HORN_HUMAN	HRNR	HGNC	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q5W8V9_HUMAN		3	6179	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI00001D7CAD	2035			22		SNV	HRNR,missense_variant,p.Ser2035Gly,ENST00000368801,NM_001009931.2;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	uc001ezt.1	c.6103A>G	6179/9623	3	3			c.6103A>G						1	SNP	c.(6103-6105)AGC>GGC	55	55			skin(2)|ovary(1)	3	Broad	hornerin			152188002		0.567	ENSG00000197915	7229	g.chr1:152188002T>C	keratinization		calcium ion binding|protein binding							-41.492138	KEEP	22	14	-1	478	486	22	14	-1	98.964869	478	486	0.056047	1	0	0	0	0	1	0	0	0	--	--		0	C				34	GBM-06-0169-TP	p.S2035G	T	TGACCTGAGCTAGCTCCATGT	NM_001009931	NP_001009931	152188002	Q86YZ3	HORN_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6179	-	C	C	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	2035			22			
HRNR	388697	broad.mit.edu	GRCh37	1	152192393	152192393	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01	TCGA-06-0214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368801.2:c.1712G>A	p.Arg571His	p.R571H	ENST00000368801	NM_001009931.2	571	cGt/cAt	0	T:0		1			T	R/H	uc001ezt.1	protein_coding	YES	CCDS30859.1			1712/8553									skin(2)|ovary(1)	3	c.(1711-1713)CGT>CAT			Low_complexity_(Seg):seg,hmmpanther:PTHR22571:SF23,hmmpanther:PTHR22571	hornerin			T:0.0002	ENSP00000357791		3-Mar	0.00014			0.0015		5.99E-05			rs375817815,COSM206110	3-Mar	common_variant		ENST00000368801	Transcript			keratinization		calcium ion binding|protein binding	ENSG00000197915	g.chr1:152192393C>T	20846			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=HORN_HUMAN&rb=161&re=2805&var=R571H	NA	getma.org/?cm=var&var=hg19,1,152192393,C,T&fts=all	R571H	--	--	1																																			0,1	1		unknown(0)	p.R571H	NM_001009931	NP_001009931			0,1	HORN_HUMAN	HRNR	HGNC	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q5W8V9_HUMAN		3	1788	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI00001D7CAD	571					SNV	HRNR,missense_variant,p.Arg571His,ENST00000368801,NM_001009931.2;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	uc001ezt.1	c.1712G>A	1788/9623	2	2			c.1712G>A						1	SNP	c.(1711-1713)CGT>CAT	41	41			skin(2)|ovary(1)	3	Broad	hornerin			152192393		0.592	ENSG00000197915	7229	g.chr1:152192393C>T	keratinization		calcium ion binding|protein binding							250.475959	KEEP	51	49	-1	119	108	51	49	-1	258.685345	119	108	0.321918	1	0	0	0	0	1	0	0	0	--	--		0	T				50	GBM-06-0214-TP	p.R571H	C	ATATGGGCCACGGCTTGAAGA	NM_001009931	NP_001009931	152192393	Q86YZ3	HORN_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1788	-	T	T	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	571						
HRNR	388697	broad.mit.edu	GRCh37	1	152192836	152192836	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-2559-01	TCGA-06-2559-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368801.2:c.1269T>C	p.Ser423=	p.S423=	ENST00000368801	NM_001009931.2	423	tcT/tcC	0			1			G	S	uc001ezt.1	protein_coding	YES	CCDS30859.1			1269/8553									skin(2)|ovary(1)	3	c.(1267-1269)TCT>TCC			Low_complexity_(Seg):seg,hmmpanther:PTHR22571:SF23,hmmpanther:PTHR22571	hornerin				ENSP00000357791		3-Mar									COSM2152704	3-Mar	.		ENST00000368801	Transcript			keratinization		calcium ion binding|protein binding	ENSG00000197915	g.chr1:152192836A>G	20846			LOW								--	--	1																																			1	1			p.S423S	NM_001009931	NP_001009931			1	HORN_HUMAN	HRNR	HGNC	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q5W8V9_HUMAN		3	1345	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI00001D7CAD	423			4		SNV	HRNR,synonymous_variant,p.=,ENST00000368801,NM_001009931.2;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	uc001ezt.1	c.1269T>C	1345/9623	4	4			c.1269T>C						1	SNP	c.(1267-1269)TCT>TCC	32	32			skin(2)|ovary(1)	3	Broad	hornerin			152192836		0.617	ENSG00000197915	7229	g.chr1:152192836A>G	keratinization		calcium ion binding|protein binding							78.251221	KEEP	20	12	-1	26	36	20	12	-1	80.143931	26	36	0.3375	1	0	0	0	0	0	0	1	0	--	--		0	G				83	GBM-06-2559-TP	p.S423S	A	CGTGGCCTGGAGACTGGCCAG	NM_001009931	NP_001009931	152192836	Q86YZ3	HORN_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1345	-	G	G	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Silent	423			4			
HRNR	388697	broad.mit.edu	GRCh37	1	152187706	152187706	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5414-01	TCGA-06-5414-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368801.2:c.6399C>T	p.Tyr2133=	p.Y2133=	ENST00000368801	NM_001009931.2	2133	taC/taT	0			1			A	Y	uc001ezt.1	protein_coding	YES	CCDS30859.1			6399/8553									skin(2)|ovary(1)	3	c.(6397-6399)TAC>TAT			Low_complexity_(Seg):seg	hornerin				ENSP00000357791		3-Mar	0.000157	0.00216			0.0087	0.000585			rs746727722,COSM528839	3-Mar	common_variant		ENST00000368801	Transcript			keratinization		calcium ion binding|protein binding	ENSG00000197915	g.chr1:152187706G>A	20846			LOW								--	--	1																																			0,1	1			p.Y2133Y	NM_001009931	NP_001009931			0,1	HORN_HUMAN	HRNR	HGNC	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q5W8V9_HUMAN		3	6475	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI00001D7CAD	2133					SNV	HRNR,synonymous_variant,p.=,ENST00000368801,NM_001009931.2;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	uc001ezt.1	c.6399C>T	6475/9623	2	2			c.6399C>T						1	SNP	c.(6397-6399)TAC>TAT	21	21			skin(2)|ovary(1)	3	Broad	hornerin			152187706		0.567	ENSG00000197915	7229	g.chr1:152187706G>A	keratinization		calcium ion binding|protein binding							-111.727781	KEEP	16	18	-1	449	516	16	18	-1	32.836363	449	516	0.032949	1	0	0	0	0	0	0	1	0	--	--		0	A				97	GBM-06-5414-TP	p.Y2133Y	G	CGTGTTGTCCGTAGCCAGAGG	NM_001009931	NP_001009931	152187706	Q86YZ3	HORN_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6475	-	A	A	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Silent	2133						
HRNR	388697	broad.mit.edu	GRCh37	1	152188024	152188024	+	synonymous_variant	Silent	SNP	C	C	G	rs142170860		TCGA-06-5415-01	TCGA-06-5415-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368801.2:c.6081G>C	p.Ser2027=	p.S2027=	ENST00000368801	NM_001009931.2	2027	tcG/tcC	0	T:0	T:0.0008	1	T:0		G	S	uc001ezt.1	protein_coding	YES	CCDS30859.1			6081/8553									skin(2)|ovary(1)	3	c.(6079-6081)TCG>TCC			Low_complexity_(Seg):seg	hornerin		T:0	T:0.0001	ENSP00000357791	T:0	3-Mar	0.000342	0.000206	0.000679		0.000163	0.000436	0.00123	7.65E-05	rs142170860,COSM462971	3-Mar	common_variant		ENST00000368801	Transcript		T:0.0002	keratinization		calcium ion binding|protein binding	ENSG00000197915	g.chr1:152188024C>G	20846			LOW								--	--	1																																			0,1	1			p.S2027S	NM_001009931	NP_001009931	T:0		0,1	HORN_HUMAN	HRNR	HGNC	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q5W8V9_HUMAN		3	6157	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI00001D7CAD	2027			22		SNV	HRNR,synonymous_variant,p.=,ENST00000368801,NM_001009931.2;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	uc001ezt.1	c.6081G>C	6157/9623	3	3			c.6081G>C						1	SNP	c.(6079-6081)TCG>TCC	11	11			skin(2)|ovary(1)	3	Broad	hornerin			152188024		0.562	ENSG00000197915	7229	g.chr1:152188024C>G	keratinization		calcium ion binding|protein binding							58.111461	KEEP	30	39	-1	429	501	30	39	-1	196.014134	429	501	0.08575	1	0	0	0	0	0	0	1	0	--	--		0	G				98	GBM-06-5415-TP	p.S2027S	C	GGCCACAGCTCGATGACTGTC	NM_001009931	NP_001009931	152188024	Q86YZ3	HORN_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6157	-	G	G	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Silent	2027			22			
HRNR	0	broad.mit.edu	GRCh37	1	152193139	152193139	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-16-0846-01	TCGA-16-0846-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368801.2:c.966C>T	p.His322=	p.H322=	ENST00000368801	NM_001009931.2	322	caC/caT	0	A:0.0002		1			A	H	uc001ezt.1	protein_coding	YES	CCDS30859.1			966/8553									skin(2)|ovary(1)	3	c.(964-966)CAC>CAT			Low_complexity_(Seg):seg,hmmpanther:PTHR22571:SF23,hmmpanther:PTHR22571	hornerin			A:0	ENSP00000357791		3-Mar	4.12E-05	9.61E-05		0.000231		1.50E-05		6.06E-05	rs373322403,COSM2184866	3-Mar	.		ENST00000368801	Transcript			keratinization		calcium ion binding|protein binding	ENSG00000197915	g.chr1:152193139G>A	20846			LOW								--	--	1																																			0,1	1			p.H322H	NM_001009931	NP_001009931			0,1	HORN_HUMAN	HRNR	HGNC	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q5W8V9_HUMAN		3	1042	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI00001D7CAD	322			3		SNV	HRNR,synonymous_variant,p.=,ENST00000368801,NM_001009931.2;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	uc001ezt.1	c.966C>T	1042/9623	1	1			c.966C>T						1	SNP	c.(964-966)CAC>CAT	55	55			skin(2)|ovary(1)	3	Broad	hornerin			152193139		0.607	ENSG00000197915	7229	g.chr1:152193139G>A	keratinization		calcium ion binding|protein binding							-18.091281	KEEP	4	0	-1	85	76	4	0	-1	7.271977	85	76	0.036697	1	0	0	0	0	0	0	1	0	--	--		0	A				155	GBM-16-0846-TP	p.H322H	G	CGTGTTGGCCGTGGCTGGAGG	NM_001009931	NP_001009931	152193139	Q86YZ3	HORN_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1042	-	A	A	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Silent	322			3			
HRNR	0	broad.mit.edu	GRCh37	1	152192865	152192865	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-6173-01	TCGA-26-6173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368801.2:c.1240G>A	p.Gly414Ser	p.G414S	ENST00000368801	NM_001009931.2	414	Ggc/Agc	0			1			T	G/S	uc001ezt.1	protein_coding	YES	CCDS30859.1			1240/8553									skin(2)|ovary(1)	3	c.(1240-1242)GGC>AGC			Low_complexity_(Seg):seg,hmmpanther:PTHR22571:SF23,hmmpanther:PTHR22571	hornerin				ENSP00000357791		3-Mar	5.77E-05			0.000462		4.50E-05			rs767373809,COSM3399716	3-Mar	common_variant		ENST00000368801	Transcript			keratinization		calcium ion binding|protein binding	ENSG00000197915	g.chr1:152192865C>T	20846			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=HORN_HUMAN&rb=161&re=2805&var=G414S	NA	getma.org/?cm=var&var=hg19,1,152192865,C,T&fts=all	G414S	--	--	1																																			0,1	1		unknown(0)	p.G414S	NM_001009931	NP_001009931			0,1	HORN_HUMAN	HRNR	HGNC	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q5W8V9_HUMAN		3	1316	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI00001D7CAD	414			4		SNV	HRNR,missense_variant,p.Gly414Ser,ENST00000368801,NM_001009931.2;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	uc001ezt.1	c.1240G>A	1316/9623	1	1			c.1240G>A						1	SNP	c.(1240-1242)GGC>AGC	10	10			skin(2)|ovary(1)	3	Broad	hornerin			152192865		0.632	ENSG00000197915	7229	g.chr1:152192865C>T	keratinization		calcium ion binding|protein binding							91.669203	KEEP	21	15	-1	30	37	21	15	-1	93.437079	30	37	0.351648	1	0	0	0	0	1	0	0	0	--	--		0	T				187	GBM-26-6173-TP	p.G414S	C	CTGTGTTGGCCGCGGCCTGAA	NM_001009931	NP_001009931	152192865	Q86YZ3	HORN_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1316	-	T	T	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	414			4			
HRNR	0	broad.mit.edu	GRCh37	1	152187663	152187663	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-27-2523-01	TCGA-27-2523-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368801.2:c.6442C>T	p.Arg2148Ter	p.R2148*	ENST00000368801	NM_001009931.2	2148	Cga/Tga	0			1			A	R/*	uc001ezt.1	protein_coding	YES	CCDS30859.1			6442/8553									skin(2)|ovary(1)	3	c.(6442-6444)CGA>TGA			Low_complexity_(Seg):seg	hornerin				ENSP00000357791		3-Mar	3.32E-05	0.000106	8.65E-05			1.53E-05		6.06E-05	rs761290226,COSM896036	3-Mar	.		ENST00000368801	Transcript			keratinization		calcium ion binding|protein binding	ENSG00000197915	g.chr1:152187663G>A	20846			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,152187663,G,A&fts=all	R2148*	--	--	1																																			0,1	1			p.R2148*	NM_001009931	NP_001009931			0,1	HORN_HUMAN	HRNR	HGNC	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q5W8V9_HUMAN		3	6518	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI00001D7CAD	2148					SNV	HRNR,stop_gained,p.Arg2148Ter,ENST00000368801,NM_001009931.2;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	uc001ezt.1	c.6442C>T	6518/9623	5	2			c.6442C>T						1	SNP	c.(6442-6444)CGA>TGA	24	24			skin(2)|ovary(1)	3	Broad	hornerin			152187663		0.587	ENSG00000197915	7229	g.chr1:152187663G>A	keratinization		calcium ion binding|protein binding							-104.956417	KEEP	8	14	-1	453	524	8	14	-1	51.878906	453	524	0.041727	1	0	0	0	0	0	1	0	0	--	--		0	A				201	GBM-27-2523-TP	p.R2148*	G	GATCCGTGTCGTTCACCCCTA	NM_001009931	NP_001009931	152187663	Q86YZ3	HORN_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6518	-	A	A	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Nonsense_Mutation	2148						
HRNR	0	broad.mit.edu	GRCh37	1	152193260	152193260	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-1970-01	TCGA-32-1970-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368801.2:c.845G>C	p.Ser282Thr	p.S282T	ENST00000368801	NM_001009931.2	282	aGc/aCc	0			1			G	S/T	uc001ezt.1	protein_coding	YES	CCDS30859.1			845/8553									skin(2)|ovary(1)	3	c.(844-846)AGC>ACC			Low_complexity_(Seg):seg,hmmpanther:PTHR22571:SF23,hmmpanther:PTHR22571	hornerin				ENSP00000357791		3-Mar	8.24E-06					1.50E-05			rs777994503,COSM3399718	3-Mar	.		ENST00000368801	Transcript			keratinization		calcium ion binding|protein binding	ENSG00000197915	g.chr1:152193260C>G	20846			MODERATE		0.205	neutral	getma.org/?cm=msa&ty=f&p=HORN_HUMAN&rb=161&re=2805&var=S282T	NA	getma.org/?cm=var&var=hg19,1,152193260,C,G&fts=all	S282T	--	--	1																																			0,1	1		unknown(0)	p.S282T	NM_001009931	NP_001009931			0,1	HORN_HUMAN	HRNR	HGNC	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q5W8V9_HUMAN		3	921	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI00001D7CAD	282			3		SNV	HRNR,missense_variant,p.Ser282Thr,ENST00000368801,NM_001009931.2;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	uc001ezt.1	c.845G>C	921/9623	3	3			c.845G>C						1	SNP	c.(844-846)AGC>ACC	15	15			skin(2)|ovary(1)	3	Broad	hornerin			152193260		0.587	ENSG00000197915	7229	g.chr1:152193260C>G	keratinization		calcium ion binding|protein binding							229.289404	KEEP	95	94	-1	100	123	95	94	-1	240.887481	100	123	0.288194	1	0	0	0	0	1	0	0	0	--	--		0	G				228	GBM-32-1970-TP	p.S282T	C	CTGACCATAGCTGGAAGACGA	NM_001009931	NP_001009931	152193260	Q86YZ3	HORN_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		3	921	-	G	G	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	282			3			
HRNR	388697		GRCh37	1	152185734	152185734	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000368801.2:c.8371G>A	p.Gly2791Ser	p.G2791S	ENST00000368801	NM_001009931.2	2791	Ggc/Agc	0																																																																																																																																																																																																																																												
HRNR	388697		GRCh37	1	152193180	152193180	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000368801.2:c.925C>T	p.His309Tyr	p.H309Y	ENST00000368801	NM_001009931.2	309	Cac/Tac	0																																																																																																																																																																																																																																												
HRNR	388697		GRCh37	1	152185788	152185788	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000368801.2:c.8317G>A	p.Gly2773Ser	p.G2773S	ENST00000368801	NM_001009931.2	2773	Ggc/Agc	0																																																																																																																																																																																																																																												
HS3ST1	0	broad.mit.edu	GRCh37	4	11401289	11401289	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-41-2572-01	TCGA-41-2572-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000002596.5:c.341A>G	p.Gln114Arg	p.Q114R	ENST00000002596	NM_005114.2	114	cAg/cGg	0			1			C	Q/R	uc003gmq.2	protein_coding	YES	CCDS3408.1			341/924									skin(1)	1	c.(340-342)CAG>CGG			hmmpanther:PTHR10605:SF16,hmmpanther:PTHR10605,Gene3D:3.40.50.300,Pfam_domain:PF00685,Superfamily_domains:SSF52540	heparan sulfate D-glucosaminyl				ENSP00000002596		2-Feb									COSM3409004	2-Feb	.		ENST00000002596	Transcript				Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	ENSG00000002587	g.chr4:11401289T>C	5194			MODERATE		2.5	medium	getma.org/?cm=msa&ty=f&p=HS3S1_HUMAN&rb=54&re=298&var=Q114R	getma.org/pdb.php?prot=HS3S1_HUMAN&from=54&to=298&var=Q114R	getma.org/?cm=var&var=hg19,4,11401289,T,C&fts=all	Q114R	--	--	1																																			1	1		possibly_damaging(0.89)	p.Q114R	NM_005114	NP_005105		deleterious(0.02)	1	HS3S1_HUMAN	HS3ST1	HGNC	O14792	HS3S1_HUMAN			Q05CH3_HUMAN,E9PDE3_HUMAN		2	664	-			UPI0000072A23	114					SNV	HS3ST1,missense_variant,p.Gln114Arg,ENST00000002596,NM_005114.2;HS3ST1,downstream_gene_variant,,ENST00000510712,;HS3ST1,downstream_gene_variant,,ENST00000514690,;	uc003gmq.2	c.341A>G	1516/8031	3	3			c.341A>G						4	SNP	c.(340-342)CAG>CGG	16	16			skin(1)	1	Broad	heparan sulfate D-glucosaminyl			11401289		0.617	ENSG00000002587	7233	g.chr4:11401289T>C		Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity							234.979735	KEEP	37	45	-1	67	72	37	45	-1	237.107977	67	72	0.387435	1	0	0	0	0	1	0	0	0	--	--		0	C				251	GBM-41-2572-TP	p.Q114R	T	CACTGTGAGCTGGTGTGGCCA	NM_005114	NP_005105	11401289	O14792	HS3S1_HUMAN	0			2	664	-	C	C			Missense_Mutation	114						
HS3ST3A1	0	broad.mit.edu	GRCh37	17	13400013	13400013	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-16-0861-01	TCGA-16-0861-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284110.1:c.722T>C	p.Val241Ala	p.V241A	ENST00000284110	NM_006042.1	241	gTg/gCg	0			1			G	V/A	uc002gob.1	protein_coding	YES	CCDS11165.1			722/1221									ovary(1)|central_nervous_system(1)	2	c.(721-723)GTG>GCG			Superfamily_domains:SSF52540,Pfam_domain:PF00685,Gene3D:3.40.50.300,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF35	heparan sulfate D-glucosaminyl				ENSP00000284110		2-Feb									COSM3402617	2-Feb	.		ENST00000284110	Transcript				Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	ENSG00000153976	g.chr17:13400013A>G	5196			MODERATE		3.835	high	getma.org/?cm=msa&ty=f&p=HS3SA_HUMAN&rb=152&re=400&var=V241A	getma.org/pdb.php?prot=HS3SA_HUMAN&from=152&to=400&var=V241A	getma.org/?cm=var&var=hg19,17,13400013,A,G&fts=all	V241A	--	--	1																																			1	1		probably_damaging(0.984)	p.V241A	NM_006042	NP_006033		deleterious(0)	1	HS3SA_HUMAN	HS3ST3A1	HGNC	Q9Y663	HS3SA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	J3KSX5_HUMAN		2	1520	-		all_lung(20;0.114)	UPI000000DAA6	241			Lumenal (Potential).		SNV	HS3ST3A1,missense_variant,p.Val241Ala,ENST00000284110,NM_006042.1;HS3ST3A1,missense_variant,p.Val39Ala,ENST00000578576,;AC005375.1,downstream_gene_variant,,ENST00000578401,;	uc002gob.1	c.722T>C	1520/2527	4	4			c.722T>C						17	SNP	c.(721-723)GTG>GCG	32	32			ovary(1)|central_nervous_system(1)	2	Broad	heparan sulfate D-glucosaminyl			13400013		0.632	ENSG00000153976	7235	g.chr17:13400013A>G		Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity							47.183786	KEEP	17	29	-1	122	78	17	29	-1	64.074162	122	78	0.16875	1	0	0	0	0	1	0	0	0	--	--		0	G				156	GBM-16-0861-TP	p.V241A	A	GTCCCGCACCACCACGATGAG	NM_006042	NP_006033	13400013	Q9Y663	HS3SA_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	2	1520	-	G	G		all_lung(20;0.114)	Missense_Mutation	241			Lumenal (Potential).			
HS3ST3A1	0	broad.mit.edu	GRCh37	17	13400088	13400088	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-1747-01	TCGA-28-1747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284110.1:c.647C>T	p.Thr216Met	p.T216M	ENST00000284110	NM_006042.1	216	aCg/aTg	0			1			A	T/M	uc002gob.1	protein_coding	YES	CCDS11165.1			647/1221									ovary(1)|central_nervous_system(1)	2	c.(646-648)ACG>ATG			Superfamily_domains:SSF52540,Pfam_domain:PF00685,Gene3D:3.40.50.300,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF35	heparan sulfate D-glucosaminyl				ENSP00000284110		2-Feb									COSM3402618	2-Feb	.		ENST00000284110	Transcript				Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	ENSG00000153976	g.chr17:13400088G>A	5196			MODERATE		3.965	high	getma.org/?cm=msa&ty=f&p=HS3SA_HUMAN&rb=152&re=400&var=T216M	getma.org/pdb.php?prot=HS3SA_HUMAN&from=152&to=400&var=T216M	getma.org/?cm=var&var=hg19,17,13400088,G,A&fts=all	T216M	--	--	1																																			1	1		probably_damaging(0.982)	p.T216M	NM_006042	NP_006033		deleterious(0)	1	HS3SA_HUMAN	HS3ST3A1	HGNC	Q9Y663	HS3SA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	J3KSX5_HUMAN		2	1445	-		all_lung(20;0.114)	UPI000000DAA6	216			Substrate binding.|Lumenal (Potential).		SNV	HS3ST3A1,missense_variant,p.Thr216Met,ENST00000284110,NM_006042.1;HS3ST3A1,missense_variant,p.Thr14Met,ENST00000578576,;AC005375.1,downstream_gene_variant,,ENST00000578401,;	uc002gob.1	c.647C>T	1445/2527	2	2			c.647C>T						17	SNP	c.(646-648)ACG>ATG	26	26			ovary(1)|central_nervous_system(1)	2	Broad	heparan sulfate D-glucosaminyl			13400088		0.622	ENSG00000153976	7235	g.chr17:13400088G>A		Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity							125.629015	KEEP	29	22	-1	47	38	29	22	-1	126.579663	47	38	0.401786	1	0	0	0	0	1	0	0	0	--	--		0	A				206	GBM-28-1747-TP	p.T216M	G	GTAACTGGGCGTCTTCTCCAT	NM_006042	NP_006033	13400088	Q9Y663	HS3SA_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	2	1445	-	A	A		all_lung(20;0.114)	Missense_Mutation	216			Substrate binding.|Lumenal (Potential).			
HS3ST4	0	broad.mit.edu	GRCh37	16	26147419	26147419	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331351.5:c.1221G>A	p.Arg407=	p.R407=	ENST00000331351	NM_006040.2	407	agG/agA	0			1			A	R	uc002dof.2	protein_coding	YES	CCDS53995.1			1221/1371									large_intestine(1)|breast(1)	2	c.(1219-1221)AGG>AGA			Gene3D:3.40.50.300,Pfam_domain:PF00685,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF11,Superfamily_domains:SSF52540	heparan sulfate D-glucosaminyl				ENSP00000330606		2-Feb									COSM3402214,COSM3402213	2-Feb	.		ENST00000331351	Transcript			heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	ENSG00000182601	g.chr16:26147419G>A	5200			LOW								--	--	1																																			1,1	1			p.R407R	NM_006040	NP_006031			1,1	HS3S4_HUMAN	HS3ST4	HGNC	Q9Y661	HS3S4_HUMAN		GBM - Glioblastoma multiforme(48;0.0988)	A5H458_HUMAN		2	1613	+			UPI000040938A	407			Lumenal (Potential).		SNV	HS3ST4,synonymous_variant,p.=,ENST00000331351,NM_006040.2;HS3ST4,non_coding_transcript_exon_variant,,ENST00000475436,;	uc002dof.2	c.1221G>A	1613/3203	2	2			c.1221G>A						16	SNP	c.(1219-1221)AGG>AGA	18	18			large_intestine(1)|breast(1)	2	Broad	heparan sulfate D-glucosaminyl			26147419		0.473	ENSG00000182601	7237	g.chr16:26147419G>A	heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity							27.837597	KEEP	7	4	-1	12	16	7	4	-1	29.278514	12	16	0.285714	1	0	0	0	0	0	0	1	0	--	--		0	A				120	GBM-12-0619-TP	p.R407R	G	GTGCCCCGAGGTGCTTAGGCA	NM_006040	NP_006031	26147419	Q9Y661	HS3S4_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0988)	2	1613	+	A	A			Silent	407			Lumenal (Potential).			
HS3ST4	0	broad.mit.edu	GRCh37	16	26147153	26147153	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01	TCGA-76-6285-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331351.5:c.955C>T	p.Arg319Trp	p.R319W	ENST00000331351	NM_006040.2	319	Cgg/Tgg	0		T:0.0015	1	T:0		T	R/W	uc002dof.2	protein_coding	YES	CCDS53995.1			955/1371									large_intestine(1)|breast(1)	2	c.(955-957)CGG>TGG			Gene3D:3.40.50.300,Pfam_domain:PF00685,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF11,Superfamily_domains:SSF52540	heparan sulfate D-glucosaminyl		T:0		ENSP00000330606	T:0	2-Feb	2.48E-05	0.000205			0.000151				rs578031781,COSM3402212,COSM3402211	2-Feb	.		ENST00000331351	Transcript		T:0.0004	heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	ENSG00000182601	g.chr16:26147153C>T	5200			MODERATE		2.64	medium	getma.org/?cm=msa&ty=f&p=HS3S4_HUMAN&rb=197&re=446&var=R319W	getma.org/pdb.php?prot=HS3S4_HUMAN&from=197&to=446&var=R319W	getma.org/?cm=var&var=hg19,16,26147153,C,T&fts=all	R319W	--	--	1																																			0,1,1	1		probably_damaging(0.992)	p.R319W	NM_006040	NP_006031	T:0	deleterious(0)	0,1,1	HS3S4_HUMAN	HS3ST4	HGNC	Q9Y661	HS3S4_HUMAN		GBM - Glioblastoma multiforme(48;0.0988)	A5H458_HUMAN		2	1347	+			UPI000040938A	319			Lumenal (Potential).		SNV	HS3ST4,missense_variant,p.Arg319Trp,ENST00000331351,NM_006040.2;HS3ST4,non_coding_transcript_exon_variant,,ENST00000475436,;	uc002dof.2	c.955C>T	1347/3203	2	2			c.955C>T						16	SNP	c.(955-957)CGG>TGG	36	36			large_intestine(1)|breast(1)	2	Broad	heparan sulfate D-glucosaminyl			26147153		0.552	ENSG00000182601	7237	g.chr16:26147153C>T	heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity							284.345052	KEEP	48	51	-1	51	73	48	51	-1	284.964709	51	73	0.440594	1	0	0	0	0	1	0	0	0	--	--		0	T				280	GBM-76-6285-TP	p.R319W	C	CTTCAAAAACCGGACCCTCGG	NM_006040	NP_006031	26147153	Q9Y661	HS3S4_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0988)	2	1347	+	T	T			Missense_Mutation	319			Lumenal (Potential).			
HS3ST6	0	broad.mit.edu	GRCh37	16	1962053	1962053	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5954-01	TCGA-19-5954-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000293937.3:c.567C>T	p.Ser189=	p.S189=	ENST00000293937		189	tcC/tcT	0			1			A	S	uc002cnf.2	protein_coding					567/1029										0	c.(472-474)TCC>TCT			hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF7,Gene3D:3.40.50.300,Pfam_domain:PF00685,Superfamily_domains:SSF52540	heparan sulfate (glucosamine)				ENSP00000293937		2-Feb	5.04E-05					1.63E-05		0.000224	rs764098722,COSM3402125,COSM3402126	2-Feb	.		ENST00000293937	Transcript						ENSG00000162040	g.chr16:1962053G>A	14178			LOW								--	--	1																																			0,1,1				p.S158S	NM_001009606	NP_001009606			0,1,1	HS3S6_HUMAN	HS3ST6	HGNC	C9JH64	C9JH64_HUMAN			C9JH64_HUMAN		2	474	-			UPI00004E18B8	158					SNV	HS3ST6,synonymous_variant,p.=,ENST00000454677,;HS3ST6,synonymous_variant,p.=,ENST00000293937,;HS3ST6,synonymous_variant,p.=,ENST00000443547,NM_001009606.2;	uc002cnf.2	c.474C>T	567/1156	1	1			c.474C>T						16	SNP	c.(472-474)TCC>TCT	50	50				0	Broad	heparan sulfate (glucosamine)			1962053		0.721	ENSG00000162040	7239	g.chr16:1962053G>A										20.718645	KEEP	8	3	-1	9	8	8	3	-1	21.364314	9	8	0.318182	1	0	0	0	0	0	0	1	0	--	--		0	A				174	GBM-19-5954-TP	p.S158S	G	GGGCGTAGTCGGAGATGGCCC	NM_001009606	NP_001009606	1962053	C9JH64	C9JH64_HUMAN	0			2	474	-	A	A			Silent	158						
HS3ST6	0	broad.mit.edu	GRCh37	16	1962204	1962204	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-5955-01	TCGA-19-5955-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000293937.3:c.416G>T	p.Ser139Ile	p.S139I	ENST00000293937		139	aGt/aTt	0			1			A	S/I	uc002cnf.2	protein_coding					416/1029										0	c.(322-324)AGT>ATT			hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF7,Gene3D:3.40.50.300,Pfam_domain:PF00685,Superfamily_domains:SSF52540	heparan sulfate (glucosamine)				ENSP00000293937		2-Feb									COSM3402127,COSM3402128	2-Feb	.		ENST00000293937	Transcript						ENSG00000162040	g.chr16:1962204C>A	14178			MODERATE		2.765	medium	getma.org/?cm=msa&ty=f&p=HS3S6_HUMAN&rb=90&re=337&var=S139I	getma.org/pdb.php?prot=HS3S6_HUMAN&from=90&to=337&var=S139I	getma.org/?cm=var&var=hg19,16,1962204,C,A&fts=all	S139I	2.14	medium	1																																			1,1			probably_damaging(0.938)	p.S108I	NM_001009606	NP_001009606		deleterious(0.04)	1,1	HS3S6_HUMAN	HS3ST6	HGNC	C9JH64	C9JH64_HUMAN			C9JH64_HUMAN		2	323	-			UPI00004E18B8	108					SNV	HS3ST6,missense_variant,p.Ser156Ile,ENST00000454677,;HS3ST6,missense_variant,p.Ser139Ile,ENST00000293937,;HS3ST6,missense_variant,p.Ser108Ile,ENST00000443547,NM_001009606.2;	uc002cnf.2	c.323G>T	416/1156	2	2			c.323G>T						16	SNP	c.(322-324)AGT>ATT	18	18				0	Broad	heparan sulfate (glucosamine)			1962204		0.706	ENSG00000162040	7239	g.chr16:1962204C>A										14.172331	KEEP	3	3	0.5	3	7	3	3	0.5	14.323886	3	7	0.384615	1	0	0	0	0	1	0	0	0	2.14	medium		0	A				175	GBM-19-5955-TP	p.S108I	C	GGGCATCAGACTCCTGCGGGA	NM_001009606	NP_001009606	1962204	C9JH64	C9JH64_HUMAN	0			2	323	-	A	A			Missense_Mutation	108						
HSCB	0	broad.mit.edu	GRCh37	22	29147228	29147228	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A			TCGA-32-2495-01	TCGA-32-2495-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216027.3:c.569-1G>A		p.X190_splice	ENST00000216027	NM_172002.3			0			1			A		uc003aea.2	protein_coding	YES	CCDS13845.1			569/708									kidney(1)	1	c.e5-1				J-type co-chaperone HSC20 precursor				ENSP00000216027											COSM3405573		.		ENST00000216027	Transcript			iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding	ENSG00000100209	g.chr22:29147228G>A	28913			HIGH	5-Apr							--	--	1																																			1	1			p.A190_splice	NM_172002	NP_741999			1	HSC20_HUMAN	HSCB	HGNC	Q8IWL3	HSC20_HUMAN					5	610	+			UPI000013C6B6						SNV	HSCB,splice_acceptor_variant,,ENST00000216027,NM_172002.3;HSCB,splice_acceptor_variant,,ENST00000398941,;HSCB,splice_acceptor_variant,,ENST00000495977,;HSCB,splice_acceptor_variant,,ENST00000483861,;HSCB,splice_acceptor_variant,,ENST00000450178,;HSCB,splice_acceptor_variant,,ENST00000420442,;	uc003aea.2	c.569_splice	-/1114	5	1			c.569_splice						22	SNP	c.e5-1	64	64			kidney(1)	1	Broad	J-type co-chaperone HSC20 precursor			29147228		0.299	ENSG00000100209	7244	g.chr22:29147228G>A	iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding							2.631356	KEEP	4	0	-1	9	14	4	0	-1	6.60348	9	14	0.086957	1	0	0	0	0	0	0	0	1	--	--		0	A				237	GBM-32-2495-TP	p.A190_splice	G	TTCTTTTTCAGCTAAACAGAA	NM_172002	NP_741999	29147228	Q8IWL3	HSC20_HUMAN	0			5	610	+	A	A			Splice_Site							
HSD11B1	0	broad.mit.edu	GRCh37	1	209880164	209880164	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-32-2495-01	TCGA-32-2495-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367027.3:c.331+1delG		M110fs	ENST00000367027	NM_005525.3	110	atG/at	0			1			-	M/X	uc001hhj.2	protein_coding		CCDS1489.1			330/879									breast(1)	1	c.(328-330)ATGfs			hmmpanther:PTHR24322:SF249,hmmpanther:PTHR24322,Pfam_domain:PF00106,Gene3D:3.40.50.720,Superfamily_domains:SSF51735	11-beta-hydroxysteroid dehydrogenase 1	NADH(DB00157)			ENSP00000355994		6-Mar										6-Mar	.		ENST00000367027	Transcript	1		glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase (NADP+) activity|11-beta-hydroxysteroid dehydrogenase|binding	ENSG00000117594	g.chr1:209880164delG	5208	2		HIGH								--	--	1																																		HSD11B1_uc001hhk.2_Frame_Shift_Del_p.M110fs					p.M110fs	NM_181755	NP_861420				DHI1_HUMAN	HSD11B1	HGNC	P28845	DHI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)			4	437	+			UPI000004C796	110			Lumenal (Potential).		deletion	HSD11B1,frameshift_variant,,ENST00000367028,NM_001206741.1;HSD11B1,frameshift_variant,,ENST00000261465,NM_181755.2;HSD11B1,frameshift_variant,,ENST00000367027,NM_005525.3;RP1-28O10.1,intron_variant,,ENST00000441672,;	uc001hhj.2	c.330delG	427/1319	5	5			c.330delG						1	DEL	c.(328-330)ATGfs	56	56			breast(1)	1	Broad	11-beta-hydroxysteroid dehydrogenase 1		NADH(DB00157)	209880164		0.517	ENSG00000117594	7245	g.chr1:209880164delG	glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase (NADP+) activity|11-beta-hydroxysteroid dehydrogenase|binding																				0.04	1	1	0	1	0	0	0	0	0	--	--		0	-			HSD11B1_uc001hhk.2_Frame_Shift_Del_p.M110fs	237	GBM-32-2495-TP	p.M110fs	G	GAAAGCTCATGGGTGAGGCTG	NM_181755	NP_861420	209880164	P28845	DHI1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	4	437	+	-	-			Frame_Shift_Del	110			Lumenal (Potential).			
HSD17B13	0	broad.mit.edu	GRCh37	4	88239495	88239495	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6282-01	TCGA-76-6282-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328546.4:c.304C>T	p.Arg102Cys	p.R102C	ENST00000328546	NM_178135.3	102	Cgc/Tgc	0			1			A	R/C	uc003hqo.2	protein_coding	YES	CCDS3618.1			304/903										0	c.(304-306)CGC>TGC			Superfamily_domains:SSF51735,PIRSF_domain:PIRSF000126,Pfam_domain:PF00106,Gene3D:3.40.50.720,hmmpanther:PTHR24316,hmmpanther:PTHR24316:SF247	hydroxysteroid (17-beta) dehydrogenase 13				ENSP00000333300		7-Feb	1.65E-05					3.00E-05			rs778806212,COSM2957044	7-Feb	.		ENST00000328546	Transcript				extracellular region	binding|oxidoreductase activity	ENSG00000170509	g.chr4:88239495G>A	18685			MODERATE		2.52	medium	getma.org/?cm=msa&ty=f&p=DHB13_HUMAN&rb=37&re=204&var=R102C	getma.org/pdb.php?prot=DHB13_HUMAN&from=37&to=204&var=R102C	getma.org/?cm=var&var=hg19,4,88239495,G,A&fts=all	R102C	--	--	1																																		HSD17B13_uc010ikk.2_Intron	0,1	1		possibly_damaging(0.791)	p.R102C	NM_178135	NP_835236		deleterious(0.01)	0,1	DHB13_HUMAN	HSD17B13	HGNC	Q7Z5P4	DHB13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000308)			2	367	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	UPI00000350AE	102					SNV	HSD17B13,missense_variant,p.Arg102Cys,ENST00000328546,NM_178135.3;HSD17B13,intron_variant,,ENST00000302219,NM_001136230.1;RP11-529H2.2,non_coding_transcript_exon_variant,,ENST00000508163,;	uc003hqo.2	c.304C>T	369/2397	1	1			c.304C>T						4	SNP	c.(304-306)CGC>TGC	59	59				0	Broad	hydroxysteroid (17-beta) dehydrogenase 13			88239495		0.468	ENSG00000170509	7252	g.chr4:88239495G>A		extracellular region	binding|oxidoreductase activity							59.793089	KEEP	16	7	-1	33	36	16	7	-1	63.502239	33	36	0.277108	1	0	0	0	0	1	0	0	0	--	--		0	A			HSD17B13_uc010ikk.2_Intron	278	GBM-76-6282-TP	p.R102C	G	TTTAGAGAGCGATAGATCTCT	NM_178135	NP_835236	88239495	Q7Z5P4	DHB13_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;0.000308)	2	367	-	A	A		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	Missense_Mutation	102						
HSD17B3	0	broad.mit.edu	GRCh37	9	99064323	99064323	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01	TCGA-14-3476-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375263.3:c.64G>A	p.Ala22Thr	p.A22T	ENST00000375263	NM_000197.1	22	Gcg/Acg	0			1			T	A/T	uc004awa.1	protein_coding	YES	CCDS6716.1			64/933										0	c.(64-66)GCG>ACG			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PIRSF_domain:PIRSF000126,hmmpanther:PTHR24316:SF296,hmmpanther:PTHR24316	estradiol 17 beta-dehydrogenase 3	NADH(DB00157)			ENSP00000364412		11-Jan									COSM3413859	11-Jan	.		ENST00000375263	Transcript	1		androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity	ENSG00000130948	g.chr9:99064323C>T	5212			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=DHB3_HUMAN&rb=1&re=48&var=A22T	NA	getma.org/?cm=var&var=hg19,9,99064323,C,T&fts=all	A22T	--	--	1																																		HSD17B3_uc010msc.1_Missense_Mutation_p.A22T	1	1		benign(0.001)	p.A22T	NM_000197	NP_000188		deleterious(0.02)	1	DHB3_HUMAN	HSD17B3	HGNC	P37058	DHB3_HUMAN			Q6FH62_HUMAN		1	112	-		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)	UPI0000001643	22					SNV	HSD17B3,missense_variant,p.Ala22Thr,ENST00000375263,NM_000197.1;HSD17B3,missense_variant,p.Ala22Thr,ENST00000375262,;	uc004awa.1	c.64G>A	112/1135	2	2			c.64G>A						9	SNP	c.(64-66)GCG>ACG	48	48				0	Broad	estradiol 17 beta-dehydrogenase 3		NADH(DB00157)	99064323		0.547	ENSG00000130948	7255	g.chr9:99064323C>T	androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity							-25.393157	KEEP	0	3	-1	62	74	0	3	-1	6.669736	62	74	0.023622	1	0	0	0	0	1	0	0	0	--	--		0	T			HSD17B3_uc010msc.1_Missense_Mutation_p.A22T	151	GBM-14-3476-TP	p.A22T	C	ACGCACTTCGCCAGGCAGGCC	NM_000197	NP_000188	99064323	P37058	DHB3_HUMAN	0			1	112	-	T	T		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)	Missense_Mutation	22						
HSD17B4	3295	broad.mit.edu	GRCh37	5	118810095	118810095	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C			TCGA-06-0237-01	TCGA-06-0237-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504811.1:c.296-1G>C		p.X99_splice	ENST00000504811	NM_001199291.1	99		0			1			C		uc003ksj.2	protein_coding		CCDS4126.1			221/2211									ovary(1)|pancreas(1)	2	c.e4-1				hydroxysteroid (17-beta) dehydrogenase 4	NADH(DB00157)			ENSP00000256216											COSM2151069		.		ENST00000256216	Transcript	1		bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	ENSG00000133835	g.chr5:118810095G>C	5213			HIGH	23-Mar							--	--	1																																		HSD17B4_uc011cwg.1_Splice_Site_p.D50_splice|HSD17B4_uc011cwh.1_Splice_Site_p.D56_splice|HSD17B4_uc011cwi.1_Splice_Site_p.D99_splice|HSD17B4_uc003ksk.3_Splice_Site|HSD17B4_uc011cwj.1_5'Flank|HSD17B4_uc010jcn.1_5'Flank	1				p.D74_splice	NM_000414	NP_000405			1	DHB4_HUMAN	HSD17B4	HGNC	P51659	DHB4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	Q9UBA4_HUMAN,E7ET17_HUMAN		4	344	+		all_cancers(142;0.0206)|Prostate(80;0.0322)	UPI0000000C4F						SNV	HSD17B4,splice_acceptor_variant,,ENST00000504811,NM_001199291.1;HSD17B4,splice_acceptor_variant,,ENST00000256216,NM_000414.3;HSD17B4,splice_acceptor_variant,,ENST00000510025,;HSD17B4,splice_acceptor_variant,,ENST00000414835,;HSD17B4,splice_acceptor_variant,,ENST00000515320,NM_001199292.1;HSD17B4,upstream_gene_variant,,ENST00000509514,;HSD17B4,upstream_gene_variant,,ENST00000513628,;HSD17B4,splice_acceptor_variant,,ENST00000512841,;HSD17B4,upstream_gene_variant,,ENST00000508788,;HSD17B4,upstream_gene_variant,,ENST00000505181,;HSD17B4,downstream_gene_variant,,ENST00000519184,;HSD17B4,splice_acceptor_variant,,ENST00000515235,;HSD17B4,splice_acceptor_variant,,ENST00000442060,;HSD17B4,splice_acceptor_variant,,ENST00000503168,;HSD17B4,splice_acceptor_variant,,ENST00000511186,;HSD17B4,splice_acceptor_variant,,ENST00000507695,;HSD17B4,upstream_gene_variant,,ENST00000512644,;	uc003ksj.2	c.221_splice	-/2683	5	3			c.221_splice						5	SNP	c.e4-1	2	2			ovary(1)|pancreas(1)	2	Broad	hydroxysteroid (17-beta) dehydrogenase 4		NADH(DB00157)	118810095		0.428	ENSG00000133835	7256	g.chr5:118810095G>C	bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	Colon(35;490 801 34689 41394 43344)			Colon(35;490 801 34689 41394 43344)			227.123007	KEEP	31	38	-1	47	29	31	38	-1	227.124746	47	29	0.496063	1	0	0	0	0	0	0	0	1	--	--		0	C			HSD17B4_uc011cwg.1_Splice_Site_p.D50_splice|HSD17B4_uc011cwh.1_Splice_Site_p.D56_splice|HSD17B4_uc011cwi.1_Splice_Site_p.D99_splice|HSD17B4_uc003ksk.3_Splice_Site|HSD17B4_uc011cwj.1_5'Flank|HSD17B4_uc010jcn.1_5'Flank	54	GBM-06-0237-TP	p.D74_splice	G	CTTTCCCTCAGATTCAGTGGA	NM_000414	NP_000405	118810095	P51659	DHB4_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	4	344	+	C	C		all_cancers(142;0.0206)|Prostate(80;0.0322)	Splice_Site							
HSD17B6	8630		GRCh37	12	57167873	57167873	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000554643.1:c.237G>A	p.Thr79=	p.T79=	ENST00000554643		79	acG/acA	0																																																																																																																																																																																																																																												
HSD17B7P2	158160		GRCh37	10	38654432	38654432	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000494540.1:n.599A>G		p.*200*	ENST00000494540				0																																																																																																																																																																																																																																												
HSD3B1	3283		GRCh37	1	120056674	120056674	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000369413.3:c.528C>T	p.Asn176=	p.N176=	ENST00000369413		176	aaC/aaT	0																																																																																																																																																																																																																																												
HSD3BP2	440606	broad.mit.edu	GRCh37	1	119985601	119985601	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T			TCGA-06-0211-01	TCGA-06-0211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000457615.1:n.245C>T		p.*82*	ENST00000457615				0		T:0,T:0	1	T:0,T:0		T		uc001ehu.2	unprocessed_pseudogene	YES													ovary(2)	2	c.(406-408)ACC>ACT				RecName: Full=3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2; AltName: Full=3-beta-HSD II; Includes:   RecName: Full=3-beta-hydroxy-Delta(5)-steroid dehydrogenase;            EC=1.1.1.145;   AltName: Full=3-beta-hydroxy-5-ene steroid dehydrogenase;   AltName: Full=Progesterone reductase; Includes:   RecName: Full=Steroid Delta-isomerase;            EC=5.3.3.1;   AltName: Full=Delta-5-3-ketosteroid isomerase;	NADH(DB00157)|Trilostane(DB01108)	T:0.001,T:0.001			T:0,T:0	3-Feb	0.000618		8.74E-05	0.000583		4.52E-05		0.00403	rs587710814,rs767801662	3-Feb	common_variant		ENST00000457615	Transcript		T:0.0022	androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	ENSG00000203858	g.chr1:119985601C>T	5220			MODIFIER								--	--	1																																				1			p.T136T			T:0.0102,T:0.0102				HSD3BP2	HGNC	P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)			4	550	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Error:Variant_position_missing_in_P26439_after_alignment					SNV	HSD3BP2,non_coding_transcript_exon_variant,,ENST00000457615,;HSD3BP2,non_coding_transcript_exon_variant,,ENST00000369414,;	uc001ehu.2	c.408C>T	245/1118	1	1			c.408C>T						1	SNP	c.(406-408)ACC>ACT	1	1			ovary(2)	2	Broad	RecName: Full=3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2; AltName: Full=3-beta-HSD II; Includes:   RecName: Full=3-beta-hydroxy-Delta(5)-steroid dehydrogenase;            EC=1.1.1.145;   AltName: Full=3-beta-hydroxy-5-ene steroid dehydrogenase;   AltName: Full=Progesterone reductase; Includes:   RecName: Full=Steroid Delta-isomerase;            EC=5.3.3.1;   AltName: Full=Delta-5-3-ketosteroid isomerase;		NADH(DB00157)|Trilostane(DB01108)	119985601		0.507	ENSG00000203858	7261	g.chr1:119985601C>T	androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity							46.918505	KEEP	6	13	-1	19	12	6	13	-1	47.136849	19	12	0.416667	1	0	0	0	0	0	0	1	0	--	--		0	T				48	GBM-06-0211-TP	p.T136T	C	TCATCCACACCGCCTGTATCA			119985601	P26439	3BHS2_HUMAN	0		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	4	550	+	T	T	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	Silent	Error:Variant_position_missing_in_P26439_after_alignment						
HSDL2	0	broad.mit.edu	GRCh37	9	115181194	115181194	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-19-2629-01	TCGA-19-2629-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398805.3:c.555delA	p.Glu185AspfsTer65	p.E185Dfs*65	ENST00000398805	NM_032303.4	185	gAa/ga	0			1			-	E/X	uc004bga.1	protein_coding	YES	CCDS43864.1			554/1257										0	c.(553-555)GAAfs			Prints_domain:PR00081,Superfamily_domains:SSF51735,Pfam_domain:PF00106,Gene3D:3.40.50.720,hmmpanther:PTHR24322,hmmpanther:PTHR24322:SF273	hydroxysteroid dehydrogenase like 2				ENSP00000381785		11-Jun										11-Jun	.		ENST00000398805	Transcript				peroxisome	oxidoreductase activity|sterol binding	ENSG00000119471	g.chr9:115181194delA	18572	1		HIGH								--	--	1																																		HSDL2_uc011lwv.1_Frame_Shift_Del_p.E64fs|HSDL2_uc004bgb.1_Frame_Shift_Del_p.N36fs|HSDL2_uc004bgc.1_Frame_Shift_Del_p.E112fs|HSDL2_uc011lww.1_Intron		1			p.E185fs	NM_032303	NP_115679				HSDL2_HUMAN	HSDL2	HGNC	Q6YN16	HSDL2_HUMAN			B4E136_HUMAN,B4DWC7_HUMAN		6	647	+			UPI0000039E52	185					deletion	HSDL2,frameshift_variant,p.Glu185AspfsTer65,ENST00000398805,NM_032303.4;HSDL2,frameshift_variant,p.Glu112AspfsTer65,ENST00000398803,NM_001195822.1;HSDL2,frameshift_variant,p.Glu65AspfsTer65,ENST00000262542,;HSDL2,intron_variant,,ENST00000539114,;HSDL2,non_coding_transcript_exon_variant,,ENST00000488101,;HSDL2,non_coding_transcript_exon_variant,,ENST00000467434,;HSDL2,non_coding_transcript_exon_variant,,ENST00000480881,;	uc004bga.1	c.554delA	781/3350	5	5			c.554delA						9	DEL	c.(553-555)GAAfs	57	57				0	Broad	hydroxysteroid dehydrogenase like 2			115181194		0.279	ENSG00000119471	7264	g.chr9:115181194delA		peroxisome	oxidoreductase activity|sterol binding																				0.29	1	1	0	1	0	0	0	0	0	--	--		0	-			HSDL2_uc011lwv.1_Frame_Shift_Del_p.E64fs|HSDL2_uc004bgb.1_Frame_Shift_Del_p.N36fs|HSDL2_uc004bgc.1_Frame_Shift_Del_p.E112fs|HSDL2_uc011lww.1_Intron	166	GBM-19-2629-TP	p.E185fs	A	ATGGCAGAAGAATTTAAAGGT	NM_032303	NP_115679	115181194	Q6YN16	HSDL2_HUMAN	0			6	647	+	-	-			Frame_Shift_Del	185						
HSF2	3298	broad.mit.edu	GRCh37	6	122744040	122744040	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-0155-01	TCGA-06-0155-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368455.4:c.1008C>A	p.Thr336=	p.T336=	ENST00000368455	NM_004506.3	336	acC/acA	0			1			A	T	uc003pyu.2	protein_coding	YES	CCDS5124.1			1008/1611										0	c.(1006-1008)ACC>ACA			hmmpanther:PTHR10015:SF144,hmmpanther:PTHR10015,Pfam_domain:PF06546	heat shock transcription factor 2 isoform a				ENSP00000357440		13-Sep									COSM2150018	13-Sep	.		ENST00000368455	Transcript			response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	ENSG00000025156	g.chr6:122744040C>A	5225			LOW								--	--	1																																		HSF2_uc003pyv.2_Silent_p.T336T	1	1			p.T336T	NM_004506	NP_004497			1	HSF2_HUMAN	HSF2	HGNC	Q03933	HSF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)			9	1195	+			UPI000012CCE8	336					SNV	HSF2,synonymous_variant,p.=,ENST00000452194,NM_001135564.1;HSF2,synonymous_variant,p.=,ENST00000368455,NM_004506.3;HSF2,synonymous_variant,p.=,ENST00000465214,;	uc003pyu.2	c.1008C>A	1200/2549	1	1			c.1008C>A						6	SNP	c.(1006-1008)ACC>ACA	64	64				0	Broad	heat shock transcription factor 2 isoform a			122744040		0.433	ENSG00000025156	7265	g.chr6:122744040C>A	response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity							165.807265	KEEP	28	32	0.533333333	40	58	28	32	0.533333333	167.67905	40	58	0.381579	1	0	0	0	0	0	0	1	0	--	--		0	A			HSF2_uc003pyv.2_Silent_p.T336T	27	GBM-06-0155-TP	p.T336T	C	CCAGTCTGACCTCAGAAGATC	NM_004506	NP_004497	122744040	Q03933	HSF2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)	9	1195	+	A	A			Silent	336						
HSH2D	84941	broad.mit.edu	GRCh37	19	16259656	16259656	+	intron_variant,NMD_transcript_variant	Intron	SNP	C	C	T	rs77723805		TCGA-06-0137-01	TCGA-06-0137-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000535834.1:c.-104-2601C>T		p.*35*	ENST00000535834				0	T:0		1			T		uc002ndp.3	nonsense_mediated_decay	YES				-/489										0	c.(94-96)CCC>CCT				hematopoietic SH2 domain containing			T:0.0001	ENSP00000442140			9.93E-05		8.66E-05	0.000117	0.000151	0.000136			rs77723805		.		ENST00000535834	Transcript				cytoplasm|nucleus		ENSG00000196684	g.chr19:16259656C>T	24920			MODIFIER	4-Jan							--	--	1																																		HSH2D_uc002ndr.2_5'UTR|HSH2D_uc010ead.2_RNA		1			p.P32P	NM_032855	NP_116244					HSH2D	HGNC	Q96JZ2	HSH2D_HUMAN			B4DT26_HUMAN		4	627	+			UPI00017A7AD4	32					SNV	HSH2D,synonymous_variant,p.=,ENST00000593154,NM_032855.2;HSH2D,synonymous_variant,p.=,ENST00000253680,;HSH2D,synonymous_variant,p.=,ENST00000588246,;HSH2D,intron_variant,,ENST00000397372,;HSH2D,intron_variant,,ENST00000593031,;HSH2D,synonymous_variant,p.=,ENST00000589463,;HSH2D,synonymous_variant,p.=,ENST00000587963,;HSH2D,synonymous_variant,p.=,ENST00000586872,;HSH2D,intron_variant,,ENST00000535834,;HSH2D,upstream_gene_variant,,ENST00000591154,;	uc002ndp.3	c.96C>T	-/982	2	2			c.96C>T						19	SNP	c.(94-96)CCC>CCT	45	45				0	Broad	hematopoietic SH2 domain containing			16259656		0.637	ENSG00000196684	7269	g.chr19:16259656C>T		cytoplasm|nucleus								111.852833	KEEP	13	24	-1	35	39	13	24	-1	113.755847	35	39	0.355769	1	0	0	0	0	0	0	1	0	--	--		0	T			HSH2D_uc002ndr.2_5'UTR|HSH2D_uc010ead.2_RNA	18	GBM-06-0137-TP	p.P32P	C	ACGGGGTCCCCGAGTGGTTCC	NM_032855	NP_116244	16259656	Q96JZ2	HSH2D_HUMAN	0			4	627	+	T	T			Silent	32						
HSPA12A	259217	broad.mit.edu	GRCh37	10	118464692	118464692	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01	TCGA-06-2567-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369209.3:c.224C>T	p.Thr75Ile	p.T75I	ENST00000369209	NM_025015.2	75	aCc/aTc	0			1			A	T/I	uc001lct.2	protein_coding	YES	CCDS41569.1			224/2028									ovary(1)	1	c.(223-225)ACC>ATC			hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF46,Gene3D:3.30.420.40,Superfamily_domains:SSF53067	heat shock 70kDa protein 12A				ENSP00000358211		12-Mar									COSM2153097	12-Mar	.		ENST00000369209	Transcript					ATP binding	ENSG00000165868	g.chr10:118464692G>A	19022			MODERATE		0.4	neutral	getma.org/?cm=msa&ty=f&p=HS12A_HUMAN&rb=1&re=200&var=T75I	NA	getma.org/?cm=var&var=hg19,10,118464692,G,A&fts=all	T75I	--	--	1																																		HSPA12A_uc001lcu.2_5'UTR	1	1		benign(0.021)	p.T75I	NM_025015	NP_079291		tolerated(0.11)	1	HS12A_HUMAN	HSPA12A	HGNC	O43301	HS12A_HUMAN		all cancers(201;0.0158)			3	329	-			UPI00001B3DE3	75					SNV	HSPA12A,missense_variant,p.Thr75Ile,ENST00000369209,NM_025015.2;HSPA12A,missense_variant,p.Thr68Ile,ENST00000468935,;HSPA12A,upstream_gene_variant,,ENST00000481291,;	uc001lct.2	c.224C>T	329/5722	1	1			c.224C>T						10	SNP	c.(223-225)ACC>ATC	64	64			ovary(1)	1	Broad	heat shock 70kDa protein 12A			118464692		0.582	ENSG00000165868	7273	g.chr10:118464692G>A			ATP binding							61.396071	KEEP	9	15	-1	12	13	9	15	-1	61.441624	12	13	0.465116	1	0	0	0	0	1	0	0	0	--	--		0	A			HSPA12A_uc001lcu.2_5'UTR	89	GBM-06-2567-TP	p.T75I	G	CGGCTCCTTGGTGAAGCTGTA	NM_025015	NP_079291	118464692	O43301	HS12A_HUMAN	0		all cancers(201;0.0158)	3	329	-	A	A			Missense_Mutation	75						
HSPA12A	259217		GRCh37	10	118434624	118434624	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000369209.3:c.1696G>A	p.Asp566Asn	p.D566N	ENST00000369209	NM_025015.2	566	Gac/Aac	0																																																																																																																																																																																																																																												
HSPA14	0	broad.mit.edu	GRCh37	10	14891809	14891809	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-5132-01	TCGA-26-5132-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378372.3:c.466G>A	p.Gly156Arg	p.G156R	ENST00000378372	NM_016299.3	156	Gga/Aga	0			1			A	G/R	uc001inf.2	protein_coding	YES	CCDS7103.1			466/1530									ovary(2)|breast(2)|lung(1)	5	c.(466-468)GGA>AGA			Gene3D:3.30.420.40,Pfam_domain:PF00012,Prints_domain:PR00301,hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF158,Superfamily_domains:SSF53067	heat shock 70kDa protein 14 isoform 1				ENSP00000367623		14-Jun									COSM3397017	14-Jun	.		ENST00000378372	Transcript			'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding	ENSG00000187522	g.chr10:14891809G>A	29526			MODERATE		-1.305	neutral	getma.org/?cm=msa&ty=f&p=HSP7E_HUMAN&rb=3&re=509&var=G156R	getma.org/pdb.php?prot=HSP7E_HUMAN&from=3&to=509&var=G156R	getma.org/?cm=var&var=hg19,10,14891809,G,A&fts=all	G156R	--	--	1																																		HSPA14_uc010qbw.1_Missense_Mutation_p.G156R	1	1		benign(0.022)	p.G156R	NM_016299	NP_057383		tolerated(0.88)	1	HSP7E_HUMAN	HSPA14	HGNC	Q0VDF9	HSP7E_HUMAN			B4DYI5_HUMAN		6	607	+			UPI000013D6A8	156					SNV	HSPA14,missense_variant,p.Gly156Arg,ENST00000378372,NM_016299.3;HSPA14,downstream_gene_variant,,ENST00000441647,;HSPA14,upstream_gene_variant,,ENST00000470430,;	uc001inf.2	c.466G>A	705/1904	2	2			c.466G>A						10	SNP	c.(466-468)GGA>AGA	42	42			ovary(2)|breast(2)|lung(1)	5	Broad	heat shock 70kDa protein 14 isoform 1			14891809		0.338	ENSG00000187522	7276	g.chr10:14891809G>A	'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding							-6.429324	KEEP	1	2	-1	33	30	1	2	-1	6.462074	33	30	0.05	1	0	0	0	0	1	0	0	0	--	--		0	A			HSPA14_uc010qbw.1_Missense_Mutation_p.G156R	181	GBM-26-5132-TP	p.G156R	G	AAATGCTCTTGGGTAAGTATA	NM_016299	NP_057383	14891809	Q0VDF9	HSP7E_HUMAN	0			6	607	+	A	A			Missense_Mutation	156						
HSPA1L	0	broad.mit.edu	GRCh37	6	31778907	31778907	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-26-5134-01	TCGA-26-5134-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375654.4:c.843G>T	p.Gln281His	p.Q281H	ENST00000375654	NM_005527.3	281	caG/caT	0			1			A	Q/H	uc003nxh.2	protein_coding	YES	CCDS34413.1			843/1926									ovary(3)|pleura(1)|kidney(1)|skin(1)	6	c.(841-843)CAG>CAT			Superfamily_domains:SSF53067,Pfam_domain:PF00012,Gene3D:3.90.640.10,hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF137	heat shock 70kDa protein 1-like				ENSP00000364805		2-Feb									COSM2157007	2-Feb	.		ENST00000375654	Transcript			response to unfolded protein		ATP binding	ENSG00000204390	g.chr6:31778907C>A	5234			MODERATE		4.48	high	getma.org/?cm=msa&ty=f&p=HS71L_HUMAN&rb=8&re=614&var=Q281H	getma.org/pdb.php?prot=HS71L_HUMAN&from=8&to=614&var=Q281H	getma.org/?cm=var&var=hg19,6,31778907,C,A&fts=all	Q281H	1.61	low	1																																		HSPA1L_uc010jte.2_Missense_Mutation_p.Q281H	1	1		probably_damaging(0.998)	p.Q281H	NM_005527	NP_005518		deleterious_low_confidence(0)	1	HS71L_HUMAN	HSPA1L	HGNC	P34931	HS71L_HUMAN					2	1026	-			UPI000012CC97	281					SNV	HSPA1L,missense_variant,p.Gln281His,ENST00000375654,NM_005527.3;HSPA1L,missense_variant,p.Gln281His,ENST00000417199,;HSPA1A,upstream_gene_variant,,ENST00000375651,NM_005345.5;HSPA1A,upstream_gene_variant,,ENST00000608703,;HSPA1A,upstream_gene_variant,,ENST00000458062,;LSM2,upstream_gene_variant,,ENST00000375661,NM_021177.4;LSM2,upstream_gene_variant,,ENST00000491421,;LSM2,upstream_gene_variant,,ENST00000493387,;LSM2,upstream_gene_variant,,ENST00000477182,;LSM2,upstream_gene_variant,,ENST00000470086,;LSM2,upstream_gene_variant,,ENST00000470083,;LSM2,upstream_gene_variant,,ENST00000475835,;	uc003nxh.2	c.843G>T	1033/2544	2	2			c.843G>T						6	SNP	c.(841-843)CAG>CAT	21	21			ovary(3)|pleura(1)|kidney(1)|skin(1)	6	Broad	heat shock 70kDa protein 1-like			31778907		0.522	ENSG00000204390	7279	g.chr6:31778907C>A	response to unfolded protein		ATP binding			2			2	273.926168	KEEP	45	52	0.536082474	76	48	45	52	0.536082474	274.274802	76	48	0.455882	1	0	0	0	0	1	0	0	0	1.61	low		0	A			HSPA1L_uc010jte.2_Missense_Mutation_p.Q281H	183	GBM-26-5134-TP	p.Q281H	C	CTAGGTTGGCCTGGGTGCTGG	NM_005527	NP_005518	31778907	P34931	HS71L_HUMAN	0			2	1026	-	A	A			Missense_Mutation	281						
HSPA6	0	broad.mit.edu	GRCh37	1	161495457	161495457	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01	TCGA-12-3650-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309758.4:c.1009G>A	p.Val337Ile	p.V337I	ENST00000309758	NM_002155.3	337	Gtc/Atc	0			1			A	V/I	uc001gap.2	protein_coding	YES	CCDS1231.1			1009/1932									skin(1)	1	c.(1009-1011)GTC>ATC			Gene3D:3.30.420.40,Pfam_domain:PF00012,Prints_domain:PR00301,PROSITE_patterns:PS01036,hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF168,Superfamily_domains:SSF53067	heat shock 70kDa protein 6 (HSP70B')				ENSP00000310219		1-Jan									COSM3399920	1-Jan	.		ENST00000309758	Transcript			response to unfolded protein		ATP binding	ENSG00000173110	g.chr1:161495457G>A	5239			MODERATE		2.1	medium	getma.org/?cm=msa&ty=f&p=HSP76_HUMAN&rb=8&re=614&var=V337I	getma.org/pdb.php?prot=HSP76_HUMAN&from=8&to=614&var=V337I	getma.org/?cm=var&var=hg19,1,161495457,G,A&fts=all	V337I	--	--	1																																		HSPA6_uc001gaq.2_Missense_Mutation_p.V337I	1	1		benign(0.258)	p.V337I	NM_002155	NP_002146		deleterious_low_confidence(0)	1	HSP76_HUMAN	HSPA6	HGNC	P17066	HSP76_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)				2	1669	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		UPI0000074238	337					SNV	HSPA6,missense_variant,p.Val337Ile,ENST00000309758,NM_002155.3;RP11-25K21.6,intron_variant,,ENST00000537821,;FCGR2A,downstream_gene_variant,,ENST00000491841,;FCGR2A,downstream_gene_variant,,ENST00000467525,;	uc001gap.2	c.1009G>A	1422/2646	1	1			c.1009G>A						1	SNP	c.(1009-1011)GTC>ATC	51	51			skin(1)	1	Broad	heat shock 70kDa protein 6 (HSP70B')			161495457		0.597	ENSG00000173110	7284	g.chr1:161495457G>A	response to unfolded protein		ATP binding							103.272692	KEEP	16	22	-1	20	11	16	22	-1	103.452567	20	11	0.559322	1	0	0	0	0	1	0	0	0	--	--		0	A			HSPA6_uc001gaq.2_Missense_Mutation_p.V337I	126	GBM-12-3650-TP	p.V337I	G	TCATGACGTCGTCCTGGTGGG	NM_002155	NP_002146	161495457	P17066	HSP76_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.00376)		2	1669	+	A	A	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		Missense_Mutation	337						
HSPB2	3316	broad.mit.edu	GRCh37	11	111784541	111784541	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0185-01	TCGA-06-0185-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304298.3:c.471C>T	p.Val157=	p.V157=	ENST00000304298	NM_001541.3	157	gtC/gtT	0			1			T	V	uc001pmg.2	protein_coding	YES	CCDS8352.1			471/549									ovary(2)|skin(1)	3	c.(469-471)GTC>GTT			hmmpanther:PTHR11527,hmmpanther:PTHR11527:SF30,Pfam_domain:PF00011,PIRSF_domain:PIRSF036514	heat shock 27kDa protein 2				ENSP00000302476		2-Feb									COSM3397413	2-Feb	.		ENST00000304298	Transcript			response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding	ENSG00000170276	g.chr11:111784541C>T				LOW								--	--	1																																		CRYAB_uc001pmf.1_5'Flank|CRYAB_uc010rwp.1_5'Flank|HSPB2_uc009yyj.2_RNA|C11orf52_uc001pmh.2_Intron	1	1			p.V157V	NM_001541	NP_001532			1	HSPB2_HUMAN	HSPB2	Uniprot_gn	Q16082	HSPB2_HUMAN		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)	A8KAH6_HUMAN		2	565	+		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	UPI000000D8EF	157					SNV	HSPB2,synonymous_variant,p.=,ENST00000304298,NM_001541.3;HSPB2,synonymous_variant,p.=,ENST00000537382,;CRYAB,5_prime_UTR_variant,,ENST00000533475,NM_001885.1;CRYAB,intron_variant,,ENST00000527950,NM_001885.1;CRYAB,upstream_gene_variant,,ENST00000526180,NM_001885.1;CRYAB,upstream_gene_variant,,ENST00000531198,;CRYAB,upstream_gene_variant,,ENST00000533971,;CRYAB,upstream_gene_variant,,ENST00000527899,;CRYAB,upstream_gene_variant,,ENST00000525823,;CRYAB,upstream_gene_variant,,ENST00000227251,;CRYAB,upstream_gene_variant,,ENST00000529647,;CRYAB,upstream_gene_variant,,ENST00000528628,;C11orf52,upstream_gene_variant,,ENST00000529342,;CRYAB,upstream_gene_variant,,ENST00000533280,;CRYAB,upstream_gene_variant,,ENST00000526167,;CRYAB,upstream_gene_variant,,ENST00000533879,;CRYAB,upstream_gene_variant,,ENST00000524660,;CRYAB,upstream_gene_variant,,ENST00000528961,;HSPB2-C11orf52,synonymous_variant,p.=,ENST00000527616,;HSPB2-C11orf52,intron_variant,,ENST00000534100,;	uc001pmg.2	c.471C>T	1059/1335	2	2			c.471C>T						11	SNP	c.(469-471)GTC>GTT	34	34			ovary(2)|skin(1)	3	Broad	heat shock 27kDa protein 2			111784541		0.592	ENSG00000170276	7289	g.chr11:111784541C>T	response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding							19.413439	KEEP	9	6	-1	48	31	9	6	-1	29.445583	48	31	0.151163	1	0	0	0	0	0	0	1	0	--	--		0	T			CRYAB_uc001pmf.1_5'Flank|CRYAB_uc010rwp.1_5'Flank|HSPB2_uc009yyj.2_RNA|C11orf52_uc001pmh.2_Intron	40	GBM-06-0185-TP	p.V157V	C	ACACAGAGGTCAATGAGGTCT	NM_001541	NP_001532	111784541	Q16082	HSPB2_HUMAN	0		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)	2	565	+	T	T		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	Silent	157						
HSPB7	27129		GRCh37	1	16342135	16342135	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000311890.9:c.453A>G	p.Ala151=	p.A151=	ENST00000311890	NM_014424.4	151	gcA/gcG	0																																																																																																																																																																																																																																												
HSPBAP1	79663	broad.mit.edu	GRCh37	3	122459902	122459902	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0241-01	TCGA-06-0241-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306103.2:c.884T>C	p.Leu295Pro	p.L295P	ENST00000306103	NM_024610.5	295	cTg/cCg	0			1			G	L/P	uc003efu.1	protein_coding	YES	CCDS3017.1			884/1467									ovary(1)|lung(1)	2	c.(883-885)CTG>CCG			Prints_domain:PR01886,Superfamily_domains:SSF51197,hmmpanther:PTHR12461,hmmpanther:PTHR12461:SF28	Hspb associated protein 1				ENSP00000302562		8-Jul									COSM3408183	8-Jul	.		ENST00000306103	Transcript	1			cytoplasm		ENSG00000169087	g.chr3:122459902A>G	16389			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=HBAP1_HUMAN&rb=280&re=479&var=L295P	NA	getma.org/?cm=var&var=hg19,3,122459902,A,G&fts=all	L295P	--	--	1																																		HSPBAP1_uc003eft.1_Missense_Mutation_p.L6P	1	1		probably_damaging(0.95)	p.L295P	NM_024610	NP_078886		deleterious(0)	1	HBAP1_HUMAN	HSPBAP1	HGNC	Q96EW2	HBAP1_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	Q9H641_HUMAN		7	1007	-			UPI00000715E9	295					SNV	HSPBAP1,missense_variant,p.Leu295Pro,ENST00000306103,NM_024610.5;HSPBAP1,3_prime_UTR_variant,,ENST00000383659,;HSPBAP1,non_coding_transcript_exon_variant,,ENST00000471534,;	uc003efu.1	c.884T>C	1028/1953	3	3			c.884T>C						3	SNP	c.(883-885)CTG>CCG	15	15			ovary(1)|lung(1)	2	Broad	Hspb associated protein 1			122459902		0.458	ENSG00000169087	7294	g.chr3:122459902A>G		cytoplasm								-38.10274	KEEP	0	5	-1	110	121	0	5	-1	11.070536	110	121	0.025381	1	0	0	0	0	1	0	0	0	--	--		0	G			HSPBAP1_uc003eft.1_Missense_Mutation_p.L6P	57	GBM-06-0241-TP	p.L295P	A	TGCAGTTTTCAGGGCACACAC	NM_024610	NP_078886	122459902	Q96EW2	HBAP1_HUMAN	0		GBM - Glioblastoma multiforme(114;0.0531)	7	1007	-	G	G			Missense_Mutation	295						
HSPG2	3339	broad.mit.edu	GRCh37	1	22206668	22206668	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0878-01	TCGA-06-0878-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374695.3:c.2275G>A	p.Gly759Ser	p.G759S	ENST00000374695	NM_005529.5	759	Ggc/Agc	0			1			T	G/S	uc001bfj.2	protein_coding	YES	CCDS30625.1			2275/13176									ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9	c.(2275-2277)GGC>AGC			hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF252,PROSITE_patterns:PS01248	heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)			ENSP00000363827		17/97									COSM3400346	17/97	.		ENST00000374695	Transcript	1		angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	ENSG00000142798	g.chr1:22206668C>T	5273			MODERATE		2.165	medium	getma.org/?cm=msa&ty=f&p=PGBM_HUMAN&rb=731&re=763&var=G759S	NA	getma.org/?cm=var&var=hg19,1,22206668,C,T&fts=all	G759S	--	--	1																																		HSPG2_uc009vqd.2_Missense_Mutation_p.G760S	1	1		probably_damaging(1)	p.G759S	NM_005529	NP_005520			1	PGBM_HUMAN	HSPG2	HGNC	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	B6EU51_HUMAN		17	2315	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	UPI0000212778	759			Laminin EGF-like 1; second part.		SNV	HSPG2,missense_variant,p.Gly759Ser,ENST00000374695,NM_005529.5;HSPG2,upstream_gene_variant,,ENST00000498495,;HSPG2,upstream_gene_variant,,ENST00000480900,;	uc001bfj.2	c.2275G>A	2355/14327	2	2			c.2275G>A						1	SNP	c.(2275-2277)GGC>AGC	35	35			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9	Broad	heparan sulfate proteoglycan 2 precursor		Becaplermin(DB00102)|Palifermin(DB00039)	22206668		0.577	ENSG00000142798	7299	g.chr1:22206668C>T	angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding							68.272071	KEEP	18	10	-1	28	43	18	10	-1	72.617395	28	43	0.273684	1	0	0	0	0	1	0	0	0	--	--		0	T			HSPG2_uc009vqd.2_Missense_Mutation_p.G760S	74	GBM-06-0878-TP	p.G759S	C	GAGCAGGTGCCCAGGTAGGGC	NM_005529	NP_005520	22206668	P98160	PGBM_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	17	2315	-	T	T		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	759			Laminin EGF-like 1; second part.			
HSPG2	3339	broad.mit.edu	GRCh37	1	22154901	22154901	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs146179360	byFrequency	TCGA-06-5417-01	TCGA-06-5417-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374695.3:c.12256C>T	p.Arg4086Trp	p.R4086W	ENST00000374695	NM_005529.5	4086	Cgg/Tgg	0	A:0.0002	A:0	1	A:0.0014		A	R/W	uc001bfj.2	protein_coding	YES	CCDS30625.1			12256/13176									ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9	c.(12256-12258)CGG>TGG			PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF252,Pfam_domain:PF00054,Gene3D:2.60.120.200,Superfamily_domains:SSF49899	heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)	A:0	A:0.0012	ENSP00000363827	A:0.003	89/97	0.000618	0.00029	8.66E-05		0.000919	0.000877	0.00223	0.000303	rs146179360,COSM2153299	89/97	common_variant		ENST00000374695	Transcript	1	A:0.0010	angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	ENSG00000142798	g.chr1:22154901G>A	5273			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=PGBM_HUMAN&rb=3957&re=4088&var=R4086W	getma.org/pdb.php?prot=PGBM_HUMAN&from=3957&to=4088&var=R4086W	getma.org/?cm=var&var=hg19,1,22154901,G,A&fts=all	R4086W	--	--	1																																		HSPG2_uc001bfi.2_Missense_Mutation_p.R103W|HSPG2_uc009vqd.2_Missense_Mutation_p.R4087W	0,1	1		probably_damaging(0.997)	p.R4086W	NM_005529	NP_005520	A:0.001		0,1	PGBM_HUMAN	HSPG2	HGNC	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	B6EU51_HUMAN		89	12296	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	UPI0000212778	4086			Laminin G-like 2.		SNV	HSPG2,missense_variant,p.Arg4086Trp,ENST00000374695,NM_005529.5;LDLRAD2,downstream_gene_variant,,ENST00000344642,NM_001013693.2;LDLRAD2,downstream_gene_variant,,ENST00000543870,;HSPG2,non_coding_transcript_exon_variant,,ENST00000486901,;HSPG2,upstream_gene_variant,,ENST00000481644,;HSPG2,downstream_gene_variant,,ENST00000469378,;	uc001bfj.2	c.12256C>T	12336/14327	2	2			c.12256C>T						1	SNP	c.(12256-12258)CGG>TGG	26	26			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9	Broad	heparan sulfate proteoglycan 2 precursor		Becaplermin(DB00102)|Palifermin(DB00039)	22154901		0.597	ENSG00000142798	7299	g.chr1:22154901G>A	angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding							94.792911	KEEP	18	18	-1	20	20	18	18	-1	94.844212	20	20	0.470588	1	0	0	0	0	1	0	0	0	--	--		0	A			HSPG2_uc001bfi.2_Missense_Mutation_p.R103W|HSPG2_uc009vqd.2_Missense_Mutation_p.R4087W	99	GBM-06-5417-TP	p.R4086W	G	AGGTCCAGCCGTTTGCCATTC	NM_005529	NP_005520	22154901	P98160	PGBM_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	89	12296	-	A	A		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	4086			Laminin G-like 2.			
HSPG2	0	broad.mit.edu	GRCh37	1	22186712	22186712	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs143523507		TCGA-12-0616-01	TCGA-12-0616-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374695.3:c.4972G>A	p.Val1658Met	p.V1658M	ENST00000374695	NM_005529.5	1658	Gtg/Atg	0	T:0.0018	T:0.0008	1	T:0		T	V/M	uc001bfj.2	protein_coding	YES	CCDS30625.1			4972/13176									ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9	c.(4972-4974)GTG>ATG			PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF252,PROSITE_patterns:PS01248,Gene3D:2.10.25.10,Pfam_domain:PF00053,SMART_domains:SM00180,Superfamily_domains:SSF57196	heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)	T:0	T:0	ENSP00000363827	T:0	40/97	0.000173	0.00167	0.000183			3.20E-05			rs143523507,COSM3400344	40/97	common_variant		ENST00000374695	Transcript	1	T:0.0002	angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	ENSG00000142798	g.chr1:22186712C>T	5273			MODERATE		1.175	low	getma.org/?cm=msa&ty=f&p=PGBM_HUMAN&rb=1613&re=1668&var=V1658M	NA	getma.org/?cm=var&var=hg19,1,22186712,C,T&fts=all	V1658M	--	--	1																																		HSPG2_uc009vqd.2_Missense_Mutation_p.V1659M	0,1	1		benign(0.384)	p.V1658M	NM_005529	NP_005520	T:0		0,1	PGBM_HUMAN	HSPG2	HGNC	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	B6EU51_HUMAN		40	5012	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	UPI0000212778	1658			Laminin EGF-like 11.		SNV	HSPG2,missense_variant,p.Val1658Met,ENST00000374695,NM_005529.5;HSPG2,upstream_gene_variant,,ENST00000430507,;	uc001bfj.2	c.4972G>A	5052/14327	2	2			c.4972G>A						1	SNP	c.(4972-4974)GTG>ATG	43	43			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9	Broad	heparan sulfate proteoglycan 2 precursor		Becaplermin(DB00102)|Palifermin(DB00039)	22186712		0.637	ENSG00000142798	7299	g.chr1:22186712C>T	angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding							49.663062	KEEP	9	11	-1	15	23	9	11	-1	51.041645	15	23	0.326923	1	0	0	0	0	1	0	0	0	--	--		0	T			HSPG2_uc009vqd.2_Missense_Mutation_p.V1659M	118	GBM-12-0616-TP	p.V1658M	C	GGGTTACCCACGTAACCTGGG	NM_005529	NP_005520	22186712	P98160	PGBM_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	40	5012	-	T	T		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	1658			Laminin EGF-like 11.			
HSPG2	0	broad.mit.edu	GRCh37	1	22163397	22163397	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-19-1790-01	TCGA-19-1790-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374695.3:c.10253A>T	p.Glu3418Val	p.E3418V	ENST00000374695	NM_005529.5	3418	gAg/gTg	0			1			A	E/V	uc001bfj.2	protein_coding	YES	CCDS30625.1			10253/13176									ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9	c.(10252-10254)GAG>GTG			PROSITE_profiles:PS50835,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF252,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)			ENSP00000363827		75/97									COSM3400341	75/97	.		ENST00000374695	Transcript	1		angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	ENSG00000142798	g.chr1:22163397T>A	5273			MODERATE		1.365	low	getma.org/?cm=msa&ty=f&p=PGBM_HUMAN&rb=3400&re=3483&var=E3418V	getma.org/pdb.php?prot=PGBM_HUMAN&from=3400&to=3483&var=E3418V	getma.org/?cm=var&var=hg19,1,22163397,T,A&fts=all	E3418V	--	--	1																																		HSPG2_uc009vqd.2_Missense_Mutation_p.E3419V	1	1		possibly_damaging(0.861)	p.E3418V	NM_005529	NP_005520			1	PGBM_HUMAN	HSPG2	HGNC	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	B6EU51_HUMAN		75	10293	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	UPI0000212778	3418			Ig-like C2-type 20.		SNV	HSPG2,missense_variant,p.Glu3418Val,ENST00000374695,NM_005529.5;HSPG2,intron_variant,,ENST00000374676,;HSPG2,upstream_gene_variant,,ENST00000426143,;HSPG2,non_coding_transcript_exon_variant,,ENST00000471322,;HSPG2,upstream_gene_variant,,ENST00000469378,;	uc001bfj.2	c.10253A>T	10333/14327	2	2			c.10253A>T						1	SNP	c.(10252-10254)GAG>GTG	48	48			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9	Broad	heparan sulfate proteoglycan 2 precursor		Becaplermin(DB00102)|Palifermin(DB00039)	22163397		0.662	ENSG00000142798	7299	g.chr1:22163397T>A	angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding							5.946505	KEEP	2	0	-1	2	4	2	0	-1	6.400739	2	4	0.25	1	0	0	0	0	1	0	0	0	--	--		0	A			HSPG2_uc009vqd.2_Missense_Mutation_p.E3419V	160	GBM-19-1790-TP	p.E3418V	T	ACAGTGGAACTCAACGCTGGC	NM_005529	NP_005520	22163397	P98160	PGBM_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	75	10293	-	A	A		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	3418			Ig-like C2-type 20.			
HSPG2	0	broad.mit.edu	GRCh37	1	22165399	22165399	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01	TCGA-32-2494-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374695.3:c.10069C>T	p.Pro3357Ser	p.P3357S	ENST00000374695	NM_005529.5	3357	Cct/Tct	0			1			A	P/S	uc001bfj.2	protein_coding	YES	CCDS30625.1			10069/13176									ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9	c.(10069-10071)CCT>TCT			PROSITE_profiles:PS50835,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF252,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726	heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)			ENSP00000363827		74/97	3.30E-05					6.69E-05			rs759825090,COSM3400342	74/97	.		ENST00000374695	Transcript	1		angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	ENSG00000142798	g.chr1:22165399G>A	5273			MODERATE		0.26	neutral	getma.org/?cm=msa&ty=f&p=PGBM_HUMAN&rb=3299&re=3382&var=P3357S	getma.org/pdb.php?prot=PGBM_HUMAN&from=3299&to=3382&var=P3357S	getma.org/?cm=var&var=hg19,1,22165399,G,A&fts=all	P3357S	--	--	1																																		HSPG2_uc009vqd.2_Missense_Mutation_p.P3358S	0,1	1		benign(0.098)	p.P3357S	NM_005529	NP_005520			0,1	PGBM_HUMAN	HSPG2	HGNC	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	B6EU51_HUMAN		74	10109	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	UPI0000212778	3357			Ig-like C2-type 19.		SNV	HSPG2,missense_variant,p.Pro3357Ser,ENST00000374695,NM_005529.5;HSPG2,synonymous_variant,p.=,ENST00000374676,;HSPG2,upstream_gene_variant,,ENST00000426143,;HSPG2,upstream_gene_variant,,ENST00000471322,;	uc001bfj.2	c.10069C>T	10149/14327	1	1			c.10069C>T						1	SNP	c.(10069-10071)CCT>TCT	59	59			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9	Broad	heparan sulfate proteoglycan 2 precursor		Becaplermin(DB00102)|Palifermin(DB00039)	22165399		0.682	ENSG00000142798	7299	g.chr1:22165399G>A	angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding							5.024738	KEEP	4	3	-1	23	14	4	3	-1	7.82902	23	14	0.136364	1	0	0	0	0	1	0	0	0	--	--		0	A			HSPG2_uc009vqd.2_Missense_Mutation_p.P3358S	236	GBM-32-2494-TP	p.P3357S	G	GAGTCCTCAGGGGCTGCACGC	NM_005529	NP_005520	22165399	P98160	PGBM_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	74	10109	-	A	A		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	3357			Ig-like C2-type 19.			
HSPH1	0	broad.mit.edu	GRCh37	13	31713139	31713139	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A			TCGA-14-3476-01	TCGA-14-3476-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320027.5:c.2086A>T	p.Met696Leu	p.M696L	ENST00000320027	NM_006644.2	696	Atg/Ttg	0		A:0	1	A:0		A	M/L	uc001utj.2	protein_coding	YES	CCDS9340.1			2086/2577										0	c.(2086-2088)ATG>TTG			Gene3D:1.20.1270.10,Pfam_domain:PF00012,hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF18,Superfamily_domains:SSF100934	heat shock 105kD		A:0		ENSP00000318687	A:0	15/18	1.65E-05							0.000121	rs548315411,COSM3399333	15/18	.		ENST00000320027	Transcript		A:0.0002	positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	ENSG00000120694	g.chr13:31713139T>A	16969			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=HS105_HUMAN&rb=3&re=708&var=M696L	getma.org/pdb.php?prot=HS105_HUMAN&from=3&to=708&var=M696L	getma.org/?cm=var&var=hg19,13,31713139,T,A&fts=all	M696L	--	--	1																																		HSPH1_uc001utk.2_Missense_Mutation_p.M652L|HSPH1_uc010aaw.2_Missense_Mutation_p.M655L|HSPH1_uc001utl.2_Missense_Mutation_p.M698L|HSPH1_uc010tds.1_Missense_Mutation_p.M620L	0,1	1		benign(0.086)	p.M696L	NM_006644	NP_006635	A:0.001	deleterious(0.03)	0,1	HS105_HUMAN	HSPH1	HGNC	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)			15	2484	-		Lung SC(185;0.0257)	UPI0000001C62	696					SNV	HSPH1,missense_variant,p.Met696Leu,ENST00000320027,NM_006644.2;HSPH1,missense_variant,p.Met655Leu,ENST00000380406,;HSPH1,missense_variant,p.Met652Leu,ENST00000380405,NM_001286503.1;HSPH1,missense_variant,p.Met698Leu,ENST00000445273,NM_001286504.1;HSPH1,missense_variant,p.Met515Leu,ENST00000429785,;HSPH1,upstream_gene_variant,,ENST00000435381,;HSPH1,splice_region_variant,,ENST00000602786,;HSPH1,splice_region_variant,,ENST00000469538,;	uc001utj.2	c.2086A>T	2431/3612	2	2			c.2086A>T						13	SNP	c.(2086-2088)ATG>TTG	34	34				0	Broad	heat shock 105kD			31713139		0.299	ENSG00000120694	7300	g.chr13:31713139T>A	positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding							183.380971	KEEP	25	36	-1	47	76	25	36	-1	186.773159	47	76	0.349112	1	0	0	0	0	1	0	0	0	--	--		0	A			HSPH1_uc001utk.2_Missense_Mutation_p.M652L|HSPH1_uc010aaw.2_Missense_Mutation_p.M655L|HSPH1_uc001utl.2_Missense_Mutation_p.M698L|HSPH1_uc010tds.1_Missense_Mutation_p.M620L	151	GBM-14-3476-TP	p.M696L	T	CGACCTACCATTAATTCTTCC	NM_006644	NP_006635	31713139	Q92598	HS105_HUMAN	0		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	15	2484	-	A	A		Lung SC(185;0.0257)	Missense_Mutation	696						
HTATSF1	0	broad.mit.edu	GRCh37	X	135593609	135593609	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-1390-01	TCGA-19-1390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000218364.4:c.1705G>T	p.Gly569Cys	p.G569C	ENST00000218364	NM_014500.4	569	Ggt/Tgt	0			1			T	G/C	uc004ezw.2	protein_coding		CCDS14657.1			1705/2268									ovary(2)|breast(1)	3	c.(1705-1707)GGT>TGT				HIV-1 Tat specific factor 1				ENSP00000218364		9-Sep									COSM3405996	9-Sep	.		ENST00000218364	Transcript			regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	ENSG00000102241	g.chrX:135593609G>T	5276			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=HTSF1_HUMAN&rb=421&re=599&var=G569C	NA	getma.org/?cm=var&var=hg19,X,135593609,G,T&fts=all	G569C	--	--	1																																		HTATSF1_uc004ezx.2_Missense_Mutation_p.G569C	1			benign(0.086)	p.G569C	NM_001163280	NP_001156752		deleterious_low_confidence(0.02)	1	HTSF1_HUMAN	HTATSF1	HGNC	O43719	HTSF1_HUMAN			Q5H919_HUMAN,Q5H918_HUMAN		10	2127	+	Acute lymphoblastic leukemia(192;0.000127)		UPI000006D876	569			Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.		SNV	HTATSF1,missense_variant,p.Gly569Cys,ENST00000535601,NM_001163280.1;HTATSF1,missense_variant,p.Gly569Cys,ENST00000218364,NM_014500.4;	uc004ezw.2	c.1705G>T	1879/2775	1	1			c.1705G>T						23	SNP	c.(1705-1707)GGT>TGT	11	11			ovary(2)|breast(1)	3	Broad	HIV-1 Tat specific factor 1			135593609		0.393	ENSG00000102241	7302	g.chrX:135593609G>T	regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding							81.102559	KEEP	16	12	0.571428571	18	35	16	12	0.571428571	82.397505	18	35	0.36	1	0	0	0	0	1	0	0	0	--	--		0	T			HTATSF1_uc004ezx.2_Missense_Mutation_p.G569C	159	GBM-19-1390-TP	p.G569C	G	TGAAGAAAATGGTCTCGAGAA	NM_001163280	NP_001156752	135593609	O43719	HTSF1_HUMAN	0			10	2127	+	T	T	Acute lymphoblastic leukemia(192;0.000127)		Missense_Mutation	569			Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.			
HTR1B	3351	broad.mit.edu	GRCh37	6	78172165	78172165	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0195-01	TCGA-06-0195-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369947.2:c.956T>G	p.Ile319Ser	p.I319S	ENST00000369947	NM_000863.1	319	aTt/aGt	0			1			C	I/S	uc003pil.1	protein_coding	YES	CCDS4986.1			956/1173										0	c.(955-957)ATT>AGT			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF16,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	5-hydroxytryptamine (serotonin) receptor 1B	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)			ENSP00000358963		1-Jan									COSM3411301	1-Jan	.		ENST00000369947	Transcript			G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity	ENSG00000135312	g.chr6:78172165A>C	5287			MODERATE		4.135	high	getma.org/?cm=msa&ty=f&p=5HT1B_HUMAN&rb=66&re=369&var=I319S	getma.org/pdb.php?prot=5HT1B_HUMAN&from=66&to=369&var=I319S	getma.org/?cm=var&var=hg19,6,78172165,A,C&fts=all	I319S	--	--	1																																			1	1		probably_damaging(0.998)	p.I319S	NM_000863	NP_000854		deleterious(0)	1	5HT1B_HUMAN	HTR1B	HGNC	P28222	5HT1B_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.205)			1	956	-		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)	UPI00000007CB	319			Helical; Name=6; (By similarity).		SNV	HTR1B,missense_variant,p.Ile319Ser,ENST00000369947,NM_000863.1;	uc003pil.1	c.956T>G	1326/1543	4	4			c.956T>G						6	SNP	c.(955-957)ATT>AGT	48	48				0	Broad	5-hydroxytryptamine (serotonin) receptor 1B		Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	78172165		0.507	ENSG00000135312	7306	g.chr6:78172165A>C	G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity							-73.505741	KEEP	3	4	-1	162	175	3	4	-1	8.446723	162	175	0.016181	1	0	0	0	0	1	0	0	0	--	--		0	C				45	GBM-06-0195-TP	p.I319S	A	GGCTCCCAAAATGATCCCTAG	NM_000863	NP_000854	78172165	P28222	5HT1B_HUMAN	0		BRCA - Breast invasive adenocarcinoma(397;0.205)	1	956	-	C	C		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)	Missense_Mutation	319			Helical; Name=6; (By similarity).			
HTR1D	3352	broad.mit.edu	GRCh37	1	23520158	23520158	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01	TCGA-06-6391-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374619.1:c.555G>A	p.Met185Ile	p.M185I	ENST00000374619	NM_000864.4	185	atG/atA	0			1			T	M/I	uc001bgn.2	protein_coding	YES	CCDS231.1			555/1134										0	c.(553-555)ATG>ATA			PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF17,hmmpanther:PTHR24247,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	5-hydroxytryptamine (serotonin) receptor 1D	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)			ENSP00000363748		1-Jan										1-Jan	.		ENST00000374619	Transcript			G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity	ENSG00000179546	g.chr1:23520158C>T	5289			MODERATE		-1.125	neutral	getma.org/?cm=msa&ty=f&p=5HT1D_HUMAN&rb=55&re=356&var=M185I	getma.org/pdb.php?prot=5HT1D_HUMAN&from=55&to=356&var=M185I	getma.org/?cm=var&var=hg19,1,23520158,C,T&fts=all	M185I	--	--	1																																				1		benign(0.001)	p.M185I	NM_000864	NP_000855		tolerated(0.42)		5HT1D_HUMAN	HTR1D	HGNC	P28221	5HT1D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)			1	1065	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)	UPI00000503DE	185			Extracellular (By similarity).		SNV	HTR1D,missense_variant,p.Met185Ile,ENST00000374619,NM_000864.4;HTR1D,missense_variant,p.Met185Ile,ENST00000314113,;	uc001bgn.2	c.555G>A	1065/2835	2	2			c.555G>A						1	SNP	c.(553-555)ATG>ATA	46	46				0	Broad	5-hydroxytryptamine (serotonin) receptor 1D		Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	23520158		0.592	ENSG00000179546	7307	g.chr1:23520158C>T	G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity							42.20625	KEEP	11	9	-1	33	36	11	9	-1	47.577417	33	36	0.227848	1	0	0	0	0	1	0	0	0	--	--		0	T				107	GBM-06-6391-TP	p.M185I	C	GACAGTCCGACATCTCCTCCT	NM_000864	NP_000855	23520158	P28221	5HT1D_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	1	1065	-	T	T		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)	Missense_Mutation	185			Extracellular (By similarity).			
HTR1E	3354	broad.mit.edu	GRCh37	6	87725488	87725488	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305344.5:c.436G>A	p.Val146Ile	p.V146I	ENST00000305344	NM_000865.2	146	Gtc/Atc	0			1			A	V/I	uc003pli.2	protein_coding	YES	CCDS5006.1			436/1098									ovary(2)|skin(1)	3	c.(436-438)GTC>ATC			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF33,hmmpanther:PTHR24247,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	5-hydroxytryptamine (serotonin) receptor 1E	Eletriptan(DB00216)			ENSP00000307766		2-Feb	6.59E-05					0.000121			rs200719637,COSM177305	2-Feb	.		ENST00000305344	Transcript			G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	ENSG00000168830	g.chr6:87725488G>A	5291			MODERATE		2.11	medium	getma.org/?cm=msa&ty=f&p=5HT1E_HUMAN&rb=39&re=344&var=V146I	getma.org/pdb.php?prot=5HT1E_HUMAN&from=39&to=344&var=V146I	getma.org/?cm=var&var=hg19,6,87725488,G,A&fts=all	V146I	--	--	1																																			0,1	1		probably_damaging(0.958)	p.V146I	NM_000865	NP_000856		deleterious(0.03)	0,1	5HT1E_HUMAN	HTR1E	HGNC	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)			2	1139	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	UPI000000126D	146			Helical; Name=4; (By similarity).		SNV	HTR1E,missense_variant,p.Val146Ile,ENST00000305344,NM_000865.2;	uc003pli.2	c.436G>A	1139/2000	2	2			c.436G>A						6	SNP	c.(436-438)GTC>ATC	32	32			ovary(2)|skin(1)	3	Broad	5-hydroxytryptamine (serotonin) receptor 1E		Eletriptan(DB00216)	87725488		0.582	ENSG00000168830	7308	g.chr6:87725488G>A	G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity							43.51045	KEEP	17	11	-1	79	90	17	11	-1	64.65204	79	90	0.15	1	0	0	0	0	1	0	0	0	--	--		0	A				58	GBM-06-0644-TP	p.V146I	G	GATCCTTACCGTCTGGACCAT	NM_000865	NP_000856	87725488	P28566	5HT1E_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1139	+	A	A		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	Missense_Mutation	146			Helical; Name=4; (By similarity).			
HTR1E	0	broad.mit.edu	GRCh37	6	87725312	87725312	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305344.5:c.260G>A	p.Arg87His	p.R87H	ENST00000305344	NM_000865.2	87	cGc/cAc	0			1			A	R/H	uc003pli.2	protein_coding	YES	CCDS5006.1			260/1098									ovary(2)|skin(1)	3	c.(259-261)CGC>CAC			PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF33,hmmpanther:PTHR24247,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	5-hydroxytryptamine (serotonin) receptor 1E	Eletriptan(DB00216)			ENSP00000307766		2-Feb	2.47E-05					4.51E-05			rs749518023,COSM304496	2-Feb	.		ENST00000305344	Transcript			G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	ENSG00000168830	g.chr6:87725312G>A	5291			MODERATE		0.4	neutral	getma.org/?cm=msa&ty=f&p=5HT1E_HUMAN&rb=39&re=344&var=R87H	getma.org/pdb.php?prot=5HT1E_HUMAN&from=39&to=344&var=R87H	getma.org/?cm=var&var=hg19,6,87725312,G,A&fts=all	R87H	--	--	1																																			0,1	1		benign(0.329)	p.R87H	NM_000865	NP_000856		tolerated(0.06)	0,1	5HT1E_HUMAN	HTR1E	HGNC	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)			2	963	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	UPI000000126D	87			Extracellular (By similarity).		SNV	HTR1E,missense_variant,p.Arg87His,ENST00000305344,NM_000865.2;	uc003pli.2	c.260G>A	963/2000	2	2			c.260G>A						6	SNP	c.(259-261)CGC>CAC	28	28			ovary(2)|skin(1)	3	Broad	5-hydroxytryptamine (serotonin) receptor 1E		Eletriptan(DB00216)	87725312		0.572	ENSG00000168830	7308	g.chr6:87725312G>A	G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity							286.199991	KEEP	54	56	-1	72	85	54	56	-1	287.012446	72	85	0.433333	1	0	0	0	0	1	0	0	0	--	--		0	A				120	GBM-12-0619-TP	p.R87H	G	GTCATGGATCGCTGGAAGCTT	NM_000865	NP_000856	87725312	P28566	5HT1E_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	963	+	A	A		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	Missense_Mutation	87			Extracellular (By similarity).			
HTR2A	3356	broad.mit.edu	GRCh37	13	47466570	47466570	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0216-01	TCGA-06-0216-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378688.4:c.568A>G	p.Thr190Ala	p.T190A	ENST00000378688		190	Act/Gct	0			1			C	T/A	uc001vbq.2	protein_coding	YES	CCDS9405.1			568/1416									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6	c.(568-570)ACT>GCT			PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF30,hmmpanther:PTHR24247,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	5-hydroxytryptamine receptor 2A isoform 1	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)			ENSP00000367959		3-Feb									COSM2150933	3-Feb	.		ENST00000378688	Transcript			ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	ENSG00000102468	g.chr13:47466570T>C	5293			MODERATE		0.665	neutral	getma.org/?cm=msa&ty=f&p=5HT2A_HUMAN&rb=91&re=380&var=T190A	getma.org/pdb.php?prot=5HT2A_HUMAN&from=91&to=380&var=T190A	getma.org/?cm=var&var=hg19,13,47466570,T,C&fts=all	T190A	--	--	1																																		HTR2A_uc001vbr.2_Missense_Mutation_p.T90A|HTR2A_uc010acr.2_Missense_Mutation_p.T190A	1	1		benign(0.094)	p.T190A	NM_000621	NP_000612		tolerated(0.54)	1	5HT2A_HUMAN	HTR2A	HGNC	P28223	5HT2A_HUMAN		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Q9P2Q9_HUMAN,B3VRC0_HUMAN,B3VRB5_HUMAN,B3VRB0_HUMAN		2	702	-		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)	UPI000000126E	190			Cytoplasmic (By similarity).		SNV	HTR2A,missense_variant,p.Thr190Ala,ENST00000378688,;HTR2A,missense_variant,p.Thr190Ala,ENST00000542664,NM_000621.4;HTR2A,missense_variant,p.Thr106Ala,ENST00000543956,NM_001165947.2;	uc001vbq.2	c.568A>G	700/4835	4	4			c.568A>G						13	SNP	c.(568-570)ACT>GCT	47	47			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6	Broad	5-hydroxytryptamine receptor 2A isoform 1		Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	47466570		0.493	ENSG00000102468	7310	g.chr13:47466570T>C	ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity							424.99186	KEEP	88	69	-1	195	120	88	69	-1	433.985264	195	120	0.338462	1	0	0	0	0	1	0	0	0	--	--		0	C			HTR2A_uc001vbr.2_Missense_Mutation_p.T90A|HTR2A_uc010acr.2_Missense_Mutation_p.T190A	51	GBM-06-0216-TP	p.T190A	T	AATGCCTTAGTTCTGGAGTTG	NM_000621	NP_000612	47466570	P28223	5HT2A_HUMAN	0		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	2	702	-	C	C		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)	Missense_Mutation	190			Cytoplasmic (By similarity).			
HTR2C	0	broad.mit.edu	GRCh37	X	114082719	114082719	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01	TCGA-19-2631-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276198.1:c.503G>A	p.Arg168Gln	p.R168Q	ENST00000276198	NM_000868.2	168	cGg/cAg	0			1			A	R/Q	uc004epu.1	protein_coding	YES	CCDS14564.1			503/1377									ovary(3)	3	c.(502-504)CGG>CAG			Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF32,Superfamily_domains:SSF81321	5-hydroxytryptamine (serotonin) receptor 2C	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)			ENSP00000276198		6-May	4.12E-05							0.000297	rs376838998,COSM1113413	6-May	.		ENST00000276198	Transcript			cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	ENSG00000147246	g.chrX:114082719G>A	5295			MODERATE		2.135	medium	getma.org/?cm=msa&ty=f&p=5HT2C_HUMAN&rb=70&re=368&var=R168Q	getma.org/pdb.php?prot=5HT2C_HUMAN&from=70&to=368&var=R168Q	getma.org/?cm=var&var=hg19,X,114082719,G,A&fts=all	R168Q	--	--	1																																		HTR2C_uc010nqc.1_Missense_Mutation_p.R168Q|HTR2C_uc004epv.1_Intron	0,1	1		probably_damaging(0.928)	p.R168Q	NM_000868	NP_000859		deleterious(0.01)	0,1	5HT2C_HUMAN	HTR2C	HGNC	P28335	5HT2C_HUMAN			B3VRF0_HUMAN,B3VRE5_HUMAN,B3VRE0_HUMAN		5	1231	+			UPI000000126F	168			Cytoplasmic (By similarity).		SNV	HTR2C,missense_variant,p.Arg168Gln,ENST00000276198,NM_000868.2;HTR2C,missense_variant,p.Arg168Gln,ENST00000371951,NM_001256760.1;HTR2C,intron_variant,,ENST00000371950,NM_001256761.1;	uc004epu.1	c.503G>A	1231/4751	2	2			c.503G>A						23	SNP	c.(502-504)CGG>CAG	42	42			ovary(3)	3	Broad	5-hydroxytryptamine (serotonin) receptor 2C		Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	114082719		0.408	ENSG00000147246	7312	g.chrX:114082719G>A	cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity							213.938395	KEEP	35	45	-1	88	85	35	45	-1	221.552657	88	85	0.30531	1	0	0	0	0	1	0	0	0	--	--		0	A			HTR2C_uc010nqc.1_Missense_Mutation_p.R168Q|HTR2C_uc004epv.1_Intron	167	GBM-19-2631-TP	p.R168Q	G	TTCAATTCGCGGACTAAGGCC	NM_000868	NP_000859	114082719	P28335	5HT2C_HUMAN	0			5	1231	+	A	A			Missense_Mutation	168			Cytoplasmic (By similarity).			
HTR3A	3359	broad.mit.edu	GRCh37	11	113853886	113853886	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs149715642		TCGA-06-0155-01	TCGA-06-0155-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355556.2:c.437G>A	p.Arg146Gln	p.R146Q	ENST00000355556	NM_213621.3	146	cGg/cAg	0	A:0		1			A	R/Q	uc010rxb.1	protein_coding					419/1437										0	c.(436-438)CGG>CAG			hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF52,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Superfamily_domains:0038932	5-hydroxytryptamine (serotonin) receptor 3A	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)		A:0.0002	ENSP00000424189		9-May	4.94E-05			0.000116		4.50E-05		0.000121	rs149715642,COSM2149996	9-May	.		ENST00000504030	Transcript			digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	ENSG00000166736	g.chr11:113853886G>A	5297			MODERATE		0.985	low	getma.org/?cm=msa&ty=f&p=5HT3A_HUMAN&rb=34&re=242&var=R140Q	getma.org/pdb.php?prot=5HT3A_HUMAN&from=34&to=242&var=R140Q	getma.org/?cm=var&var=hg19,11,113853886,G,A&fts=all	R140Q	--	--	1																																		HTR3A_uc010rxa.1_Missense_Mutation_p.R146Q|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Missense_Mutation_p.R125Q	0,1			benign(0.007)	p.R146Q	NM_213621	NP_998786		tolerated(0.15)	0,1	5HT3A_HUMAN	HTR3A	HGNC	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Q9UEP2_HUMAN,B3VRK0_HUMAN,B3VRJ5_HUMAN,B3VRI5_HUMAN,B3VRI0_HUMAN,B3VRH5_HUMAN,B3VRH0_HUMAN,B3VRG5_HUMAN,B3VRG0_HUMAN		5	670	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	UPI0000049A7E	140			Extracellular (Potential).		SNV	HTR3A,missense_variant,p.Arg140Gln,ENST00000504030,;HTR3A,missense_variant,p.Arg146Gln,ENST00000355556,NM_213621.3;HTR3A,missense_variant,p.Arg146Gln,ENST00000375498,NM_000869.5;HTR3A,missense_variant,p.Arg140Gln,ENST00000506841,;HTR3A,missense_variant,p.Arg125Gln,ENST00000299961,NM_001161772.2;HTR3A,5_prime_UTR_variant,,ENST00000535865,;HTR3A,missense_variant,p.Arg140Gln,ENST00000510849,;HTR3A,non_coding_transcript_exon_variant,,ENST00000502622,;	uc010rxb.1	c.437G>A	864/2432	2	2			c.437G>A						11	SNP	c.(436-438)CGG>CAG	44	44				0	Broad	5-hydroxytryptamine (serotonin) receptor 3A		Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	113853886		0.542	ENSG00000166736	7313	g.chr11:113853886G>A	digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity							319.23145	KEEP	51	58	-1	74	89	51	58	-1	321.724579	74	89	0.396226	1	0	0	0	0	1	0	0	0	--	--		0	A			HTR3A_uc010rxa.1_Missense_Mutation_p.R146Q|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Missense_Mutation_p.R125Q	27	GBM-06-0155-TP	p.R146Q	G	GTGTATATTCGGCATCAAGGC	NM_213621	NP_998786	113853886	P46098	5HT3A_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	5	670	+	A	A		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	Missense_Mutation	140			Extracellular (Potential).			
HTR3A	3359	broad.mit.edu	GRCh37	11	113860380	113860380	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0744-01	TCGA-06-0744-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355556.2:c.1446C>T	p.Arg482=	p.R482=	ENST00000355556	NM_213621.3	482	cgC/cgT	0			1			T	R	uc010rxb.1	protein_coding					1332/1437										0	c.(1444-1446)CGC>CGT			hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF52,Gene3D:1.20.120.370,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Superfamily_domains:SSF90112	5-hydroxytryptamine (serotonin) receptor 3A	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)			ENSP00000424189		9-Sep	1.65E-05							0.000121	rs766338857,COSM2151672	9-Sep	.		ENST00000504030	Transcript			digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	ENSG00000166736	g.chr11:113860380C>T	5297			LOW								--	--	1																																		HTR3A_uc010rxa.1_Silent_p.R450R|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Silent_p.R429R	0,1				p.R482R	NM_213621	NP_998786			0,1	5HT3A_HUMAN	HTR3A	HGNC	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Q9UEP2_HUMAN,B3VRK0_HUMAN,B3VRJ5_HUMAN,B3VRI5_HUMAN,B3VRI0_HUMAN,B3VRH5_HUMAN,B3VRH0_HUMAN,B3VRG5_HUMAN,B3VRG0_HUMAN		8	1679	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	UPI0000049A7E	444			HA-stretch.|Cytoplasmic (Potential).		SNV	HTR3A,synonymous_variant,p.=,ENST00000504030,;HTR3A,synonymous_variant,p.=,ENST00000355556,NM_213621.3;HTR3A,synonymous_variant,p.=,ENST00000375498,NM_000869.5;HTR3A,synonymous_variant,p.=,ENST00000506841,;HTR3A,synonymous_variant,p.=,ENST00000299961,NM_001161772.2;HTR3A,synonymous_variant,p.=,ENST00000535865,;HTR3A,3_prime_UTR_variant,,ENST00000510849,;HTR3A,downstream_gene_variant,,ENST00000502622,;	uc010rxb.1	c.1446C>T	1777/2432	2	2			c.1446C>T						11	SNP	c.(1444-1446)CGC>CGT	22	22				0	Broad	5-hydroxytryptamine (serotonin) receptor 3A		Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	113860380		0.612	ENSG00000166736	7313	g.chr11:113860380C>T	digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity							67.154818	KEEP	22	13	-1	37	30	22	13	-1	68.997459	37	30	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	T			HTR3A_uc010rxa.1_Silent_p.R450R|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Silent_p.R429R	66	GBM-06-0744-TP	p.R482R	C	ACTGGCTGCGCGTGGGCTCCG	NM_213621	NP_998786	113860380	P46098	5HT3A_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	8	1679	+	T	T		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	Silent	444			HA-stretch.|Cytoplasmic (Potential).			
HTR3A	0	broad.mit.edu	GRCh37	11	113857602	113857602	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-27-2521-01	TCGA-27-2521-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504030.2:c.972C>A	p.Ile324=	p.I324=	ENST00000504030		324	atC/atA	0			1			A	I	uc010rxb.1	protein_coding					972/1437										0	c.(1084-1086)ATC>ATA			Transmembrane_helices:TMhelix,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF52,Gene3D:1.20.120.370,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Superfamily_domains:SSF90112	5-hydroxytryptamine (serotonin) receptor 3A	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)			ENSP00000424189		9-Aug									COSM3397422	9-Aug	.		ENST00000504030	Transcript			digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	ENSG00000166736	g.chr11:113857602C>A	5297			LOW								--	--	1																																		HTR3A_uc010rxa.1_Silent_p.I330I|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Silent_p.I309I	1				p.I362I	NM_213621	NP_998786			1	5HT3A_HUMAN	HTR3A	HGNC	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Q9UEP2_HUMAN,B3VRK0_HUMAN,B3VRJ5_HUMAN,B3VRI5_HUMAN,B3VRI0_HUMAN,B3VRH5_HUMAN,B3VRH0_HUMAN,B3VRG5_HUMAN,B3VRG0_HUMAN		7	1319	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	UPI0000049A7E	324			Cytoplasmic (Potential).		SNV	HTR3A,synonymous_variant,p.=,ENST00000504030,;HTR3A,synonymous_variant,p.=,ENST00000355556,NM_213621.3;HTR3A,synonymous_variant,p.=,ENST00000375498,NM_000869.5;HTR3A,synonymous_variant,p.=,ENST00000506841,;HTR3A,synonymous_variant,p.=,ENST00000299961,NM_001161772.2;HTR3A,synonymous_variant,p.=,ENST00000535865,;HTR3A,3_prime_UTR_variant,,ENST00000510849,;HTR3A,non_coding_transcript_exon_variant,,ENST00000502622,;	uc010rxb.1	c.1086C>A	1417/2432	1	1			c.1086C>A						11	SNP	c.(1084-1086)ATC>ATA	50	50				0	Broad	5-hydroxytryptamine (serotonin) receptor 3A		Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	113857602		0.582	ENSG00000166736	7313	g.chr11:113857602C>A	digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity							137.170395	KEEP	25	30	0.545454545	54	65	25	30	0.545454545	140.100354	54	65	0.349315	1	0	0	0	0	0	0	1	0	--	--		0	A			HTR3A_uc010rxa.1_Silent_p.I330I|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Silent_p.I309I	200	GBM-27-2521-TP	p.I362I	C	CCGAGACCATCTTCATTGTGC	NM_213621	NP_998786	113857602	P46098	5HT3A_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	7	1319	+	A	A		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	Silent	324			Cytoplasmic (Potential).			
HTR3A	0	broad.mit.edu	GRCh37	11	113857614	113857614	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-27-2521-01	TCGA-27-2521-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504030.2:c.984G>C	p.Arg328=	p.R328=	ENST00000504030		328	cgG/cgC	0			1			C	R	uc010rxb.1	protein_coding					984/1437										0	c.(1096-1098)CGG>CGC			hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF52,Gene3D:1.20.120.370,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Superfamily_domains:SSF90112	5-hydroxytryptamine (serotonin) receptor 3A	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)			ENSP00000424189		9-Aug									COSM3397423	9-Aug	.		ENST00000504030	Transcript			digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	ENSG00000166736	g.chr11:113857614G>C	5297			LOW								--	--	1																																		HTR3A_uc010rxa.1_Silent_p.R334R|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Silent_p.R313R	1				p.R366R	NM_213621	NP_998786			1	5HT3A_HUMAN	HTR3A	HGNC	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Q9UEP2_HUMAN,B3VRK0_HUMAN,B3VRJ5_HUMAN,B3VRI5_HUMAN,B3VRI0_HUMAN,B3VRH5_HUMAN,B3VRH0_HUMAN,B3VRG5_HUMAN,B3VRG0_HUMAN		7	1331	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	UPI0000049A7E	328			Cytoplasmic (Potential).		SNV	HTR3A,synonymous_variant,p.=,ENST00000504030,;HTR3A,synonymous_variant,p.=,ENST00000355556,NM_213621.3;HTR3A,synonymous_variant,p.=,ENST00000375498,NM_000869.5;HTR3A,synonymous_variant,p.=,ENST00000506841,;HTR3A,synonymous_variant,p.=,ENST00000299961,NM_001161772.2;HTR3A,synonymous_variant,p.=,ENST00000535865,;HTR3A,3_prime_UTR_variant,,ENST00000510849,;HTR3A,non_coding_transcript_exon_variant,,ENST00000502622,;	uc010rxb.1	c.1098G>C	1429/2432	4	4			c.1098G>C						11	SNP	c.(1096-1098)CGG>CGC	36	36				0	Broad	5-hydroxytryptamine (serotonin) receptor 3A		Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	113857614		0.572	ENSG00000166736	7313	g.chr11:113857614G>C	digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity							143.282338	KEEP	21	27	-1	49	58	21	27	-1	145.577019	49	58	0.354839	1	0	0	0	0	0	0	1	0	--	--		0	C			HTR3A_uc010rxa.1_Silent_p.R334R|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Silent_p.R313R	200	GBM-27-2521-TP	p.R366R	G	TCATTGTGCGGCTGGTGCACA	NM_213621	NP_998786	113857614	P46098	5HT3A_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	7	1331	+	C	C		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	Silent	328			Cytoplasmic (Potential).			
HTR3A	0	broad.mit.edu	GRCh37	11	113853896	113853896	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2615-01	TCGA-32-2615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504030.2:c.429C>T	p.Gly143=	p.G143=	ENST00000504030		143	ggC/ggT	0		T:0	1	T:0		T	G	uc010rxb.1	protein_coding					429/1437										0	c.(445-447)GGC>GGT			hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF52,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Superfamily_domains:0038932	5-hydroxytryptamine (serotonin) receptor 3A	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	T:0.001		ENSP00000424189	T:0	9-May	3.29E-05					5.99E-05			rs573001897,COSM1254506	9-May	.		ENST00000504030	Transcript		T:0.0002	digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	ENSG00000166736	g.chr11:113853896C>T	5297			LOW								--	--	1																																		HTR3A_uc010rxa.1_Silent_p.G149G|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Silent_p.G128G	0,1				p.G149G	NM_213621	NP_998786	T:0		0,1	5HT3A_HUMAN	HTR3A	HGNC	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Q9UEP2_HUMAN,B3VRK0_HUMAN,B3VRJ5_HUMAN,B3VRI5_HUMAN,B3VRI0_HUMAN,B3VRH5_HUMAN,B3VRH0_HUMAN,B3VRG5_HUMAN,B3VRG0_HUMAN		5	680	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	UPI0000049A7E	143			Extracellular (Potential).		SNV	HTR3A,synonymous_variant,p.=,ENST00000504030,;HTR3A,synonymous_variant,p.=,ENST00000355556,NM_213621.3;HTR3A,synonymous_variant,p.=,ENST00000375498,NM_000869.5;HTR3A,synonymous_variant,p.=,ENST00000506841,;HTR3A,synonymous_variant,p.=,ENST00000299961,NM_001161772.2;HTR3A,5_prime_UTR_variant,,ENST00000535865,;HTR3A,synonymous_variant,p.=,ENST00000510849,;HTR3A,non_coding_transcript_exon_variant,,ENST00000502622,;	uc010rxb.1	c.447C>T	874/2432	1	1			c.447C>T						11	SNP	c.(445-447)GGC>GGT	1	1				0	Broad	5-hydroxytryptamine (serotonin) receptor 3A		Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	113853896		0.537	ENSG00000166736	7313	g.chr11:113853896C>T	digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity							161.651335	KEEP	35	32	-1	79	73	35	32	-1	168.71943	79	73	0.304348	1	0	0	0	0	0	0	1	0	--	--		0	T			HTR3A_uc010rxa.1_Silent_p.G149G|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Silent_p.G128G	239	GBM-32-2615-TP	p.G149G	C	GGCATCAAGGCGAAGTTCAGA	NM_213621	NP_998786	113853896	P46098	5HT3A_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	5	680	+	T	T		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	Silent	143			Extracellular (Potential).			
HTR3A	3359		GRCh37	11	113857684	113857684	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000355556.2:c.1168G>A	p.Ala390Thr	p.A390T	ENST00000355556	NM_213621.3	390	Gcc/Acc	0																																																																																																																																																																																																																																												
HTR3B	9177	broad.mit.edu	GRCh37	11	113815368	113815368	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-06-0877-01	TCGA-06-0877-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260191.2:c.981C>G	p.Leu327=	p.L327=	ENST00000260191	NM_006028.4	327	ctC/ctG	0			1			G	L	uc001pok.2	protein_coding	YES	CCDS8364.1			981/1326										0	c.(979-981)CTC>CTG			hmmpanther:PTHR18945:SF53,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Gene3D:1.20.120.370,Superfamily_domains:SSF90112	5-hydroxytryptamine (serotonin) receptor 3B				ENSP00000260191		9-Aug									COSM2152154	9-Aug	.		ENST00000260191	Transcript			synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	ENSG00000149305	g.chr11:113815368C>G	5298			LOW								--	--	1																																		HTR3B_uc001pol.2_Silent_p.L316L	1	1			p.L327L	NM_006028	NP_006019			1	5HT3B_HUMAN	HTR3B	HGNC	O95264	5HT3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	B3VRP0_HUMAN,B3VRN0_HUMAN,B3VRM0_HUMAN,B3VRL5_HUMAN,B3VRL0_HUMAN,B3VRK5_HUMAN		8	1048	+		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	UPI0000073DA3	327			Cytoplasmic (Potential).		SNV	HTR3B,synonymous_variant,p.=,ENST00000260191,NM_006028.4;HTR3B,synonymous_variant,p.=,ENST00000537778,;HTR3B,3_prime_UTR_variant,,ENST00000543092,;	uc001pok.2	c.981C>G	1238/2011	3	3			c.981C>G						11	SNP	c.(979-981)CTC>CTG	59	59				0	Broad	5-hydroxytryptamine (serotonin) receptor 3B			113815368		0.557	ENSG00000149305	7314	g.chr11:113815368C>G	synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity							131.982927	KEEP	24	17	-1	44	53	24	17	-1	136.335309	44	53	0.304687	1	0	0	0	0	0	0	1	0	--	--		0	G			HTR3B_uc001pol.2_Silent_p.L316L	73	GBM-06-0877-TP	p.L327L	C	TCAAATTCCTCCATGATGAGC	NM_006028	NP_006019	113815368	O95264	5HT3B_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	8	1048	+	G	G		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	Silent	327			Cytoplasmic (Potential).			
HTR3B	0	broad.mit.edu	GRCh37	11	113813844	113813844	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-16-1045-01	TCGA-16-1045-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260191.2:c.837G>T	p.Val279=	p.V279=	ENST00000260191	NM_006028.4	279	gtG/gtT	0			1			T	V	uc001pok.2	protein_coding	YES	CCDS8364.1			837/1326										0	c.(835-837)GTG>GTT			Transmembrane_helices:TMhelix,hmmpanther:PTHR18945:SF53,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Gene3D:1.20.120.370,Superfamily_domains:SSF90112	5-hydroxytryptamine (serotonin) receptor 3B				ENSP00000260191		9-Jul									COSM3397421	9-Jul	.		ENST00000260191	Transcript			synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	ENSG00000149305	g.chr11:113813844G>T	5298			LOW								--	--	1																																		HTR3B_uc001pol.2_Silent_p.V268V	1	1			p.V279V	NM_006028	NP_006019			1	5HT3B_HUMAN	HTR3B	HGNC	O95264	5HT3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	B3VRP0_HUMAN,B3VRN0_HUMAN,B3VRM0_HUMAN,B3VRL5_HUMAN,B3VRL0_HUMAN,B3VRK5_HUMAN		7	904	+		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	UPI0000073DA3	279			Helical; Name=2; (Potential).		SNV	HTR3B,synonymous_variant,p.=,ENST00000260191,NM_006028.4;HTR3B,synonymous_variant,p.=,ENST00000537778,;HTR3B,intron_variant,,ENST00000543092,;	uc001pok.2	c.837G>T	1094/2011	2	2			c.837G>T						11	SNP	c.(835-837)GTG>GTT	17	17				0	Broad	5-hydroxytryptamine (serotonin) receptor 3B			113813844		0.572	ENSG00000149305	7314	g.chr11:113813844G>T	synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity							-7.928381	KEEP	0	3	-1	41	40	0	3	-1	6.634159	41	40	0.045455	1	0	0	0	0	0	0	1	0	--	--		0	T			HTR3B_uc001pol.2_Silent_p.V268V	157	GBM-16-1045-TP	p.V279V	G	GTGTGCTGGTGGGCTACACCG	NM_006028	NP_006019	113813844	O95264	5HT3B_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	7	904	+	T	T		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	Silent	279			Helical; Name=2; (Potential).			
HTR3E	285242	broad.mit.edu	GRCh37	3	183822631	183822631	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01	TCGA-06-0195-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000440596.2:c.524G>A	p.Arg175His	p.R175H	ENST00000440596	NM_001256614.1	175	cGc/cAc	0			1			A	R/H	uc010hxq.2	protein_coding		CCDS58868.1			446/1371									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(445-447)CGC>CAC			hmmpanther:PTHR18945:SF378,hmmpanther:PTHR18945,Gene3D:2.70.170.10,Pfam_domain:PF02931,Superfamily_domains:0038932	5-hydroxytryptamine receptor 3 subunit E				ENSP00000401444		9-May									COSM3408470	9-May	.		ENST00000415389	Transcript				integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	ENSG00000186038	g.chr3:183822631G>A	24005			MODERATE		0.71	neutral	getma.org/?cm=msa&ty=f&p=5HT3E_HUMAN&rb=43&re=247&var=R149H	getma.org/pdb.php?prot=5HT3E_HUMAN&from=43&to=247&var=R149H	getma.org/?cm=var&var=hg19,3,183822631,G,A&fts=all	R149H	--	--	1																																		HTR3E_uc003fml.3_Missense_Mutation_p.R134H|HTR3E_uc003fmm.2_Missense_Mutation_p.R164H|HTR3E_uc010hxr.2_Missense_Mutation_p.R175H|HTR3E_uc003fmn.2_Missense_Mutation_p.R149H	1			benign(0.021)	p.R149H	NM_182589	NP_872395		tolerated(0.86)	1	5HT3E_HUMAN	HTR3E	HGNC	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		C9J420_HUMAN		5	912	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		UPI000156575F	149			Extracellular (Potential).		SNV	HTR3E,missense_variant,p.Arg149His,ENST00000415389,NM_001256613.1,NM_198313.2;HTR3E,missense_variant,p.Arg164His,ENST00000335304,NM_182589.2,NM_198314.2;HTR3E,missense_variant,p.Arg175His,ENST00000440596,NM_001256614.1;HTR3E,missense_variant,p.Arg149His,ENST00000436361,;HTR3E,missense_variant,p.Arg134His,ENST00000425359,;HTR3E,missense_variant,p.Arg78His,ENST00000431041,;HTR3E-AS1,intron_variant,,ENST00000431427,;	uc010hxq.2	c.446G>A	912/2139	1	1			c.446G>A						3	SNP	c.(445-447)CGC>CAC	60	60			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	5-hydroxytryptamine receptor 3 subunit E			183822631		0.488	ENSG00000186038	7317	g.chr3:183822631G>A		integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	Melanoma(7;227 727 6634 44770)			Melanoma(7;227 727 6634 44770)			181.788151	KEEP	27	42	-1	38	41	27	42	-1	181.950134	38	41	0.463235	1	0	0	0	0	1	0	0	0	--	--		0	A			HTR3E_uc003fml.3_Missense_Mutation_p.R134H|HTR3E_uc003fmm.2_Missense_Mutation_p.R164H|HTR3E_uc010hxr.2_Missense_Mutation_p.R175H|HTR3E_uc003fmn.2_Missense_Mutation_p.R149H	45	GBM-06-0195-TP	p.R149H	G	AATGAAGGTCGCATCAGGTAT	NM_182589	NP_872395	183822631	A5X5Y0	5HT3E_HUMAN	0	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		5	912	+	A	A	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Missense_Mutation	149			Extracellular (Potential).			
HTR3E	285242	broad.mit.edu	GRCh37	3	183823993	183823993	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01	TCGA-06-1804-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000440596.2:c.1081G>A	p.Val361Met	p.V361M	ENST00000440596	NM_001256614.1	361	Gtg/Atg	0			1			A	V/M	uc010hxq.2	protein_coding		CCDS58868.1			1003/1371									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(1003-1005)GTG>ATG			hmmpanther:PTHR18945:SF378,hmmpanther:PTHR18945,Pfam_domain:PF02932,Gene3D:1.20.120.370,Superfamily_domains:SSF90112	5-hydroxytryptamine receptor 3 subunit E				ENSP00000401444		9-Aug									COSM2152517	9-Aug	.		ENST00000415389	Transcript				integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	ENSG00000186038	g.chr3:183823993G>A	24005			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=5HT3E_HUMAN&rb=254&re=454&var=V335M	NA	getma.org/?cm=var&var=hg19,3,183823993,G,A&fts=all	V335M	--	--	1																																		HTR3E_uc003fml.3_Missense_Mutation_p.V320M|HTR3E_uc003fmm.2_Missense_Mutation_p.V350M|HTR3E_uc010hxr.2_Missense_Mutation_p.V361M|HTR3E_uc003fmn.2_Missense_Mutation_p.V335M	1			benign(0.223)	p.V335M	NM_182589	NP_872395		tolerated(0.16)	1	5HT3E_HUMAN	HTR3E	HGNC	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		C9J420_HUMAN		8	1469	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		UPI000156575F	335			Cytoplasmic (Potential).		SNV	HTR3E,missense_variant,p.Val335Met,ENST00000415389,NM_001256613.1,NM_198313.2;HTR3E,missense_variant,p.Val350Met,ENST00000335304,NM_182589.2,NM_198314.2;HTR3E,missense_variant,p.Val361Met,ENST00000440596,NM_001256614.1;HTR3E,missense_variant,p.Val335Met,ENST00000436361,;HTR3E,missense_variant,p.Val320Met,ENST00000425359,;HTR3E,downstream_gene_variant,,ENST00000431041,;HTR3E-AS1,upstream_gene_variant,,ENST00000431427,;	uc010hxq.2	c.1003G>A	1469/2139	1	1			c.1003G>A						3	SNP	c.(1003-1005)GTG>ATG	53	53			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	5-hydroxytryptamine receptor 3 subunit E			183823993		0.667	ENSG00000186038	7317	g.chr3:183823993G>A		integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	Melanoma(7;227 727 6634 44770)			Melanoma(7;227 727 6634 44770)			157.763622	KEEP	33	34	-1	40	72	33	34	-1	159.779565	40	72	0.375839	1	0	0	0	0	1	0	0	0	--	--		0	A			HTR3E_uc003fml.3_Missense_Mutation_p.V320M|HTR3E_uc003fmm.2_Missense_Mutation_p.V350M|HTR3E_uc010hxr.2_Missense_Mutation_p.V361M|HTR3E_uc003fmn.2_Missense_Mutation_p.V335M	79	GBM-06-1804-TP	p.V335M	G	CCTGCTGCACGTGGCCACCAC	NM_182589	NP_872395	183823993	A5X5Y0	5HT3E_HUMAN	0	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		8	1469	+	A	A	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Missense_Mutation	335			Cytoplasmic (Potential).			
HTR3E	285242	broad.mit.edu	GRCh37	3	183824315	183824315	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-2558-01	TCGA-06-2558-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000440596.2:c.1283G>T	p.Gly428Val	p.G428V	ENST00000440596	NM_001256614.1	428	gGg/gTg	0			1			T	G/V	uc010hxq.2	protein_coding		CCDS58868.1			1205/1371									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(1204-1206)GGG>GTG			hmmpanther:PTHR18945:SF378,hmmpanther:PTHR18945,Superfamily_domains:SSF90112	5-hydroxytryptamine receptor 3 subunit E				ENSP00000401444		9-Sep									COSM2152597	9-Sep	.		ENST00000415389	Transcript				integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	ENSG00000186038	g.chr3:183824315G>T	24005			MODERATE		1.585	low	getma.org/?cm=msa&ty=f&p=5HT3E_HUMAN&rb=254&re=454&var=G402V	NA	getma.org/?cm=var&var=hg19,3,183824315,G,T&fts=all	G402V	--	--	1																																		HTR3E_uc003fml.3_Missense_Mutation_p.G387V|HTR3E_uc003fmm.2_Missense_Mutation_p.G417V|HTR3E_uc010hxr.2_Missense_Mutation_p.G428V|HTR3E_uc003fmn.2_Missense_Mutation_p.G402V	1			benign(0.317)	p.G402V	NM_182589	NP_872395		tolerated(0.11)	1	5HT3E_HUMAN	HTR3E	HGNC	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		C9J420_HUMAN		9	1671	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		UPI000156575F	402			Cytoplasmic (Potential).		SNV	HTR3E,missense_variant,p.Gly402Val,ENST00000415389,NM_001256613.1,NM_198313.2;HTR3E,missense_variant,p.Gly417Val,ENST00000335304,NM_182589.2,NM_198314.2;HTR3E,missense_variant,p.Gly428Val,ENST00000440596,NM_001256614.1;HTR3E,missense_variant,p.Gly402Val,ENST00000436361,;HTR3E,missense_variant,p.Gly387Val,ENST00000425359,;HTR3E,downstream_gene_variant,,ENST00000431041,;HTR3E-AS1,upstream_gene_variant,,ENST00000431427,;	uc010hxq.2	c.1205G>T	1671/2139	2	2			c.1205G>T						3	SNP	c.(1204-1206)GGG>GTG	24	24			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	5-hydroxytryptamine receptor 3 subunit E			183824315		0.612	ENSG00000186038	7317	g.chr3:183824315G>T		integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	Melanoma(7;227 727 6634 44770)			Melanoma(7;227 727 6634 44770)			62.441338	KEEP	13	12	0.52	26	21	13	12	0.52	63.394005	26	21	0.373134	1	0	0	0	0	1	0	0	0	--	--		0	T			HTR3E_uc003fml.3_Missense_Mutation_p.G387V|HTR3E_uc003fmm.2_Missense_Mutation_p.G417V|HTR3E_uc010hxr.2_Missense_Mutation_p.G428V|HTR3E_uc003fmn.2_Missense_Mutation_p.G402V	82	GBM-06-2558-TP	p.G402V	G	GAGCTGACAGGGGGCTCAGAA	NM_182589	NP_872395	183824315	A5X5Y0	5HT3E_HUMAN	0	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		9	1671	+	T	T	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Missense_Mutation	402			Cytoplasmic (Potential).			
HTR3E	285242		GRCh37	3	183824082	183824082	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000440596.2:c.1170G>A	p.Ala390=	p.A390=	ENST00000440596	NM_001256614.1	390	gcG/gcA	0																																																																																																																																																																																																																																												
HTR4	0	broad.mit.edu	GRCh37	5	147830788	147830788	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01	TCGA-74-6573-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354217.2:c.1124C>T	p.Pro375Leu	p.P375L	ENST00000354217		375	cCc/cTc	0			1			A	P/L	uc003lpj.1	protein_coding		CCDS34270.1			1124/1164									ovary(1)	1	c.(1123-1125)CCC>CTC				serotonin 5-HT4 receptor isoform a	Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)			ENSP00000346156		7-Jul									COSM3409980	7-Jul	.		ENST00000354217	Transcript			G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	ENSG00000164270	g.chr5:147830788G>A	5299			MODERATE								--	--	1																																		HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_3'UTR	1	1		benign(0.013)	p.P375L	NM_001040169	NP_001035259		tolerated_low_confidence(0.81)	1	5HT4R_HUMAN	HTR4	HGNC	Q13639	5HT4R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				7	1288	-			UPI000002A2CC	Error:Variant_position_missing_in_Q13639_after_alignment					SNV	HTR4,missense_variant,p.Pro375Leu,ENST00000354217,;HTR4,missense_variant,p.Pro375Leu,ENST00000521530,NM_001040169.2;HTR4,3_prime_UTR_variant,,ENST00000314512,NM_199453.3;HTR4,3_prime_UTR_variant,,ENST00000521735,;HTR4,3_prime_UTR_variant,,ENST00000522588,;	uc003lpj.1	c.1124C>T	1288/1481	1	1			c.1124C>T						5	SNP	c.(1123-1125)CCC>CTC	50	50			ovary(1)	1	Broad	serotonin 5-HT4 receptor isoform a		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	147830788		0.468	ENSG00000164270	7318	g.chr5:147830788G>A	G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	GBM(120;370 1604 14007 17804 41573)			GBM(120;370 1604 14007 17804 41573)			407.286194	KEEP	83	81	-1	126	112	83	81	-1	410.423	126	112	0.39577	1	0	0	0	0	1	0	0	0	--	--		0	A			HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_3'UTR	260	GBM-74-6573-TP	p.P375L	G	ATTGTGTATGGGCAGTTTCTC	NM_001040169	NP_001035259	147830788	Q13639	5HT4R_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1288	-	A	A			Missense_Mutation	Error:Variant_position_missing_in_Q13639_after_alignment						
HTR5A	3361	broad.mit.edu	GRCh37	7	154863097	154863097	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs150537072	byFrequency	TCGA-06-0214-01	TCGA-06-0214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000287907.2:c.488C>T	p.Ala163Val	p.A163V	ENST00000287907	NM_024012.3	163	gCg/gTg	0	T:0.0057	T:0.0045	1	T:0		T	A/V	uc003wlu.1	protein_coding	YES	CCDS5936.1			488/1074									ovary(2)|large_intestine(1)	3	c.(487-489)GCG>GTG			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF14,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	5-hydroxytryptamine receptor 5A		T:0	T:0.0001	ENSP00000287907	T:0	2-Jan	0.00056	0.00558	0.000259	0.000116		7.51E-05	0.0011		rs150537072,COSM1449588	2-Jan	common_variant		ENST00000287907	Transcript		T:0.0012		integral to plasma membrane	serotonin receptor activity	ENSG00000157219	g.chr7:154863097C>T	5300			MODERATE		1.07	low	getma.org/?cm=msa&ty=f&p=5HT5A_HUMAN&rb=57&re=338&var=A163V	getma.org/pdb.php?prot=5HT5A_HUMAN&from=57&to=338&var=A163V	getma.org/?cm=var&var=hg19,7,154863097,C,T&fts=all	A163V	--	--	1																																		uc011kvt.1_5'UTR|uc003wlt.2_5'UTR	0,1	1		benign(0.027)	p.A163V	NM_024012	NP_076917	T:0	tolerated(0.15)	0,1	5HT5A_HUMAN	HTR5A	HGNC	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Q86UN1_HUMAN,Q75LH0_HUMAN,A4D2N2_HUMAN		1	552	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	UPI000004477E	163			Helical; Name=4; (By similarity).		SNV	HTR5A,missense_variant,p.Ala163Val,ENST00000287907,NM_024012.3;HTR5A-AS1,5_prime_UTR_variant,,ENST00000395731,;HTR5A-AS1,5_prime_UTR_variant,,ENST00000543018,;HTR5A-AS1,non_coding_transcript_exon_variant,,ENST00000493904,;	uc003wlu.1	c.488C>T	1064/2912	2	2			c.488C>T						7	SNP	c.(487-489)GCG>GTG	34	34			ovary(2)|large_intestine(1)	3	Broad	5-hydroxytryptamine receptor 5A			154863097		0.627	ENSG00000157219	7319	g.chr7:154863097C>T		integral to plasma membrane	serotonin receptor activity							34.322861	KEEP	13	8	-1	47	34	13	8	-1	42.265301	47	34	0.191011	1	0	0	0	0	1	0	0	0	--	--		0	T			uc011kvt.1_5'UTR|uc003wlt.2_5'UTR	50	GBM-06-0214-TP	p.A163V	C	GTCATGATCGCGCTCACCTGG	NM_024012	NP_076917	154863097	P47898	5HT5A_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	552	+	T	T	all_neural(206;0.119)	all_hematologic(28;0.0592)	Missense_Mutation	163			Helical; Name=4; (By similarity).			
HTR5A	3361	broad.mit.edu	GRCh37	7	154863298	154863298	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000287907.2:c.689G>A	p.Arg230His	p.R230H	ENST00000287907	NM_024012.3	230	cGc/cAc	0			1			A	R/H	uc003wlu.1	protein_coding	YES	CCDS5936.1			689/1074									ovary(2)|large_intestine(1)	3	c.(688-690)CGC>CAC			Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF14,Superfamily_domains:SSF81321	5-hydroxytryptamine receptor 5A				ENSP00000287907		2-Jan									COSM376211	2-Jan	.		ENST00000287907	Transcript				integral to plasma membrane	serotonin receptor activity	ENSG00000157219	g.chr7:154863298G>A	5300			MODERATE		1.305	low	getma.org/?cm=msa&ty=f&p=5HT5A_HUMAN&rb=57&re=338&var=R230H	getma.org/pdb.php?prot=5HT5A_HUMAN&from=57&to=338&var=R230H	getma.org/?cm=var&var=hg19,7,154863298,G,A&fts=all	R230H	--	--	1																																		uc011kvt.1_5'Flank|uc003wlt.2_5'Flank	1	1		possibly_damaging(0.458)	p.R230H	NM_024012	NP_076917		deleterious(0.03)	1	5HT5A_HUMAN	HTR5A	HGNC	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Q86UN1_HUMAN,Q75LH0_HUMAN,A4D2N2_HUMAN		1	753	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	UPI000004477E	230			Cytoplasmic (By similarity).		SNV	HTR5A,missense_variant,p.Arg230His,ENST00000287907,NM_024012.3;HTR5A-AS1,upstream_gene_variant,,ENST00000395731,;HTR5A-AS1,upstream_gene_variant,,ENST00000543018,;HTR5A-AS1,upstream_gene_variant,,ENST00000493904,;	uc003wlu.1	c.689G>A	1265/2912	2	2			c.689G>A						7	SNP	c.(688-690)CGC>CAC	46	46			ovary(2)|large_intestine(1)	3	Broad	5-hydroxytryptamine receptor 5A			154863298		0.542	ENSG00000157219	7319	g.chr7:154863298G>A		integral to plasma membrane	serotonin receptor activity							145.340149	KEEP	28	28	-1	38	48	28	28	-1	146.585113	38	48	0.392	1	0	0	0	0	1	0	0	0	--	--		0	A			uc011kvt.1_5'Flank|uc003wlt.2_5'Flank	102	GBM-06-5858-TP	p.R230H	G	GCCAAGTTCCGCGTGGGCTCC	NM_024012	NP_076917	154863298	P47898	5HT5A_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	753	+	A	A	all_neural(206;0.119)	all_hematologic(28;0.0592)	Missense_Mutation	230			Cytoplasmic (By similarity).			
HTR5A	0	broad.mit.edu	GRCh37	7	154875908	154875908	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01	TCGA-27-2519-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000287907.2:c.785G>A	p.Arg262His	p.R262H	ENST00000287907	NM_024012.3	262	cGc/cAc	0			1			A	R/H	uc003wlu.1	protein_coding	YES	CCDS5936.1			785/1074								p.R262C(1)	ovary(2)|large_intestine(1)	3	c.(784-786)CGC>CAC			Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF14	5-hydroxytryptamine receptor 5A				ENSP00000287907		2-Feb									COSM3394637	2-Feb	.		ENST00000287907	Transcript				integral to plasma membrane	serotonin receptor activity	ENSG00000157219	g.chr7:154875908G>A	5300			MODERATE		2.325	medium	getma.org/?cm=msa&ty=f&p=5HT5A_HUMAN&rb=57&re=338&var=R262H	getma.org/pdb.php?prot=5HT5A_HUMAN&from=57&to=338&var=R262H	getma.org/?cm=var&var=hg19,7,154875908,G,A&fts=all	R262H	--	--	1																																			1	1		benign(0.013)	p.R262H	NM_024012	NP_076917		tolerated(0.11)	1	5HT5A_HUMAN	HTR5A	HGNC	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Q86UN1_HUMAN,Q75LH0_HUMAN,A4D2N2_HUMAN		2	849	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	UPI000004477E	262		R -> C (in a colorectal cancer sample; somatic mutation).	Cytoplasmic (By similarity).		SNV	HTR5A,missense_variant,p.Arg262His,ENST00000287907,NM_024012.3;HTR5A,non_coding_transcript_exon_variant,,ENST00000486819,;	uc003wlu.1	c.785G>A	1361/2912	2	2			c.785G>A						7	SNP	c.(784-786)CGC>CAC	26	26		p.R262C(1)	ovary(2)|large_intestine(1)	3	Broad	5-hydroxytryptamine receptor 5A			154875908		0.607	ENSG00000157219	7319	g.chr7:154875908G>A		integral to plasma membrane	serotonin receptor activity							-1.877431	KEEP	5	2	-1	41	36	5	2	-1	11.634637	41	36	0.070423	1	0	0	0	0	1	0	0	0	--	--		0	A				199	GBM-27-2519-TP	p.R262H	G	TTCACGGTCCGCCACGCCACC	NM_024012	NP_076917	154875908	P47898	5HT5A_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	2	849	+	A	A	all_neural(206;0.119)	all_hematologic(28;0.0592)	Missense_Mutation	262		R -> C (in a colorectal cancer sample; somatic mutation).	Cytoplasmic (By similarity).			
HTR6	0	broad.mit.edu	GRCh37	1	19992747	19992747	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-2623-01	TCGA-19-2623-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000289753.1:c.501C>T	p.His167=	p.H167=	ENST00000289753	NM_000871.1	167	caC/caT	0			1			T	H	uc001bcl.2	protein_coding	YES	CCDS197.1			501/1323									ovary(1)	1	c.(499-501)CAC>CAT			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR01102,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF90,Superfamily_domains:SSF81321	5-hydroxytryptamine (serotonin) receptor 6	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)			ENSP00000289753		3-Jan									COSM3400177	3-Jan	.		ENST00000289753	Transcript			G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	ENSG00000158748	g.chr1:19992747C>T	5301			LOW								--	--	1																																			1	1			p.H167H	NM_000871	NP_000862			1	5HT6R_HUMAN	HTR6	HGNC	P50406	5HT6R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)			1	968	+		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	UPI00000503E0	167			Extracellular (By similarity).		SNV	HTR6,synonymous_variant,p.=,ENST00000289753,NM_000871.1;	uc001bcl.2	c.501C>T	968/1984	2	2			c.501C>T						1	SNP	c.(499-501)CAC>CAT	17	17			ovary(1)	1	Broad	5-hydroxytryptamine (serotonin) receptor 6		Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	19992747		0.711	ENSG00000158748	7320	g.chr1:19992747C>T	G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	Esophageal Squamous(168;1879 2619 6848 21062)			Esophageal Squamous(168;1879 2619 6848 21062)			52.37266	KEEP	9	14	-1	28	22	9	14	-1	54.377999	28	22	0.3125	1	0	0	0	0	0	0	1	0	--	--		0	T				163	GBM-19-2623-TP	p.H167H	C	TGGGCTGGCACGAGCTGGGCC	NM_000871	NP_000862	19992747	P50406	5HT6R_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	1	968	+	T	T		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	Silent	167			Extracellular (By similarity).			
HTR7	3363	broad.mit.edu	GRCh37	10	92509172	92509172	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01	TCGA-06-0649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336152.3:c.719C>T	p.Thr240Met	p.T240M	ENST00000336152	NM_019859.3	240	aCg/aTg	0			1			A	T/M	uc001kha.2	protein_coding	YES	CCDS7408.1			719/1440									ovary(1)	1	c.(718-720)ACG>ATG			Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24247:SF104,hmmpanther:PTHR24247,PROSITE_profiles:PS50262	5-hydroxytryptamine receptor 7 isoform d	Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)			ENSP00000337949		4-Feb	8.24E-06							6.06E-05	rs768133205,COSM1349748,COSM1349749	4-Feb	.		ENST00000336152	Transcript			blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	ENSG00000148680	g.chr10:92509172G>A	5302			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=5HT7R_HUMAN&rb=98&re=384&var=T240M	getma.org/pdb.php?prot=5HT7R_HUMAN&from=98&to=384&var=T240M	getma.org/?cm=var&var=hg19,10,92509172,G,A&fts=all	T240M	--	--	1																																		HTR7_uc001kgz.2_Missense_Mutation_p.T240M|HTR7_uc001khb.2_Missense_Mutation_p.T240M	0,1,1	1		probably_damaging(0.999)	p.T240M	NM_019859	NP_062873		deleterious(0.01)	0,1,1	5HT7R_HUMAN	HTR7	HGNC	P34969	5HT7R_HUMAN					2	962	-			UPI0000049B68	240			Helical; Name=5; (By similarity).		SNV	HTR7,missense_variant,p.Thr240Met,ENST00000371721,;HTR7,missense_variant,p.Thr240Met,ENST00000336152,NM_019859.3;HTR7,missense_variant,p.Thr240Met,ENST00000371719,NM_019860.3;HTR7,missense_variant,p.Thr240Met,ENST00000277874,NM_000872.4;	uc001kha.2	c.719C>T	746/3126	2	2			c.719C>T						10	SNP	c.(718-720)ACG>ATG	29	29			ovary(1)	1	Broad	5-hydroxytryptamine receptor 7 isoform d		Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	92509172		0.473	ENSG00000148680	7321	g.chr10:92509172G>A	blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity							75.691367	KEEP	20	12	-1	18	29	20	12	-1	75.997501	18	29	0.430556	1	0	0	0	0	1	0	0	0	--	--		0	A			HTR7_uc001kgz.2_Missense_Mutation_p.T240M|HTR7_uc001khb.2_Missense_Mutation_p.T240M	62	GBM-06-0649-TP	p.T240M	G	AGAGTAAATCGTATAGCCAAA	NM_019859	NP_062873	92509172	P34969	5HT7R_HUMAN	0			2	962	-	A	A			Missense_Mutation	240			Helical; Name=5; (By similarity).			
HTR7	3363		GRCh37	10	92616992	92616992	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000336152.3:c.437G>A	p.Gly146Asp	p.G146D	ENST00000336152	NM_019859.3	146	gGc/gAc	0																																																																																																																																																																																																																																												
HTRA3	0	broad.mit.edu	GRCh37	4	8307709	8307709	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-6192-01	TCGA-76-6192-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307358.2:c.1208A>G	p.Gln403Arg	p.Q403R	ENST00000307358	NM_053044.3	403	cAa/cGa	0			1			G	Q/R	uc003gla.2	protein_coding	YES	CCDS3400.1			1208/1362									ovary(1)	1	c.(1207-1209)CAA>CGA			Prints_domain:PR00834,Superfamily_domains:SSF50156,SMART_domains:SM00228,Gene3D:2.30.42.10,Pfam_domain:PF13180,hmmpanther:PTHR22939:SF14,hmmpanther:PTHR22939,PROSITE_profiles:PS50106	HtrA serine peptidase 3 precursor				ENSP00000303766		9-Sep									COSM1310309	9-Sep	.		ENST00000307358	Transcript			proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	ENSG00000170801	g.chr4:8307709A>G	30406			MODERATE		-0.055	neutral	getma.org/?cm=msa&ty=f&p=HTRA3_HUMAN&rb=355&re=447&var=Q403R	getma.org/pdb.php?prot=HTRA3_HUMAN&from=355&to=447&var=Q403R	getma.org/?cm=var&var=hg19,4,8307709,A,G&fts=all	Q403R	--	--	1																																			1	1		benign(0.015)	p.Q403R	NM_053044	NP_444272		tolerated(0.93)	1	HTRA3_HUMAN	HTRA3	HGNC	P83110	HTRA3_HUMAN					9	1412	+			UPI0000001647	403			PDZ.		SNV	HTRA3,missense_variant,p.Gln403Arg,ENST00000307358,NM_053044.3;	uc003gla.2	c.1208A>G	1412/2541	4	4			c.1208A>G						4	SNP	c.(1207-1209)CAA>CGA	21	21			ovary(1)	1	Broad	HtrA serine peptidase 3 precursor			8307709		0.647	ENSG00000170801	7324	g.chr4:8307709A>G	proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity							-14.653181	KEEP	1	5	-1	53	51	1	5	-1	6.723243	53	51	0.033333	1	0	0	0	0	1	0	0	0	--	--		0	G				275	GBM-76-6192-TP	p.Q403R	A	GGCGGCATCCAAGATGGTGAC	NM_053044	NP_444272	8307709	P83110	HTRA3_HUMAN	0			9	1412	+	G	G			Missense_Mutation	403			PDZ.			
HTRA3	0	broad.mit.edu	GRCh37	4	8307709	8307709	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-6193-01	TCGA-76-6193-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307358.2:c.1208A>G	p.Gln403Arg	p.Q403R	ENST00000307358	NM_053044.3	403	cAa/cGa	0			1			G	Q/R	uc003gla.2	protein_coding	YES	CCDS3400.1			1208/1362									ovary(1)	1	c.(1207-1209)CAA>CGA			Prints_domain:PR00834,Superfamily_domains:SSF50156,SMART_domains:SM00228,Gene3D:2.30.42.10,Pfam_domain:PF13180,hmmpanther:PTHR22939:SF14,hmmpanther:PTHR22939,PROSITE_profiles:PS50106	HtrA serine peptidase 3 precursor				ENSP00000303766		9-Sep									COSM1310309	9-Sep	.		ENST00000307358	Transcript			proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	ENSG00000170801	g.chr4:8307709A>G	30406			MODERATE		-0.055	neutral	getma.org/?cm=msa&ty=f&p=HTRA3_HUMAN&rb=355&re=447&var=Q403R	getma.org/pdb.php?prot=HTRA3_HUMAN&from=355&to=447&var=Q403R	getma.org/?cm=var&var=hg19,4,8307709,A,G&fts=all	Q403R	--	--	1																																			1	1		benign(0.015)	p.Q403R	NM_053044	NP_444272		tolerated(0.93)	1	HTRA3_HUMAN	HTRA3	HGNC	P83110	HTRA3_HUMAN					9	1412	+			UPI0000001647	403			PDZ.		SNV	HTRA3,missense_variant,p.Gln403Arg,ENST00000307358,NM_053044.3;	uc003gla.2	c.1208A>G	1412/2541	4	4			c.1208A>G						4	SNP	c.(1207-1209)CAA>CGA	21	21			ovary(1)	1	Broad	HtrA serine peptidase 3 precursor			8307709		0.647	ENSG00000170801	7324	g.chr4:8307709A>G	proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity							-14.481517	KEEP	0	5	-1	51	56	0	5	-1	6.56292	51	56	0.043011	1	0	0	0	0	1	0	0	0	--	--		0	G				276	GBM-76-6193-TP	p.Q403R	A	GGCGGCATCCAAGATGGTGAC	NM_053044	NP_444272	8307709	P83110	HTRA3_HUMAN	0			9	1412	+	G	G			Missense_Mutation	403			PDZ.			
HUNK	30811	broad.mit.edu	GRCh37	21	33296873	33296873	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01	TCGA-06-5413-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000270112.2:c.355C>T	p.Arg119Cys	p.R119C	ENST00000270112	NM_014586.1	119	Cgc/Tgc	0			1			T	R/C	uc002yph.2	protein_coding	YES	CCDS13610.1			355/2145									stomach(1)|skin(1)	2	c.(355-357)CGC>TGC			Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:3.30.200.20,hmmpanther:PTHR24343:SF152,hmmpanther:PTHR24343,PROSITE_profiles:PS50011	hormonally upregulated Neu-associated kinase				ENSP00000270112		11-Feb	1.65E-05					1.50E-05		6.06E-05	rs775412939,COSM2153199	11-Feb	.		ENST00000270112	Transcript			multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	ENSG00000142149	g.chr21:33296873C>T	13326			MODERATE		2.295	medium	getma.org/?cm=msa&ty=f&p=HUNK_HUMAN&rb=63&re=320&var=R119C	getma.org/pdb.php?prot=HUNK_HUMAN&from=63&to=320&var=R119C	getma.org/?cm=var&var=hg19,21,33296873,C,T&fts=all	R119C	--	--	1																																			0,1	1		probably_damaging(1)	p.R119C	NM_014586	NP_055401		deleterious(0)	0,1	HUNK_HUMAN	HUNK	HGNC	P57058	HUNK_HUMAN					2	715	+			UPI0000035B66	119			Protein kinase.		SNV	HUNK,missense_variant,p.Arg119Cys,ENST00000270112,NM_014586.1;HUNK,missense_variant,p.Arg4Cys,ENST00000430354,;	uc002yph.2	c.355C>T	715/7385	2	2			c.355C>T						21	SNP	c.(355-357)CGC>TGC	24	24			stomach(1)|skin(1)	2	Broad	hormonally upregulated Neu-associated kinase			33296873		0.488	ENSG00000142149	7327	g.chr21:33296873C>T	multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			285			285	57.276063	KEEP	13	8	-1	27	25	13	8	-1	60.312822	27	25	0.28169	1	0	0	0	0	1	0	0	0	--	--		0	T				96	GBM-06-5413-TP	p.R119C	C	GCAGATGATCCGCCACCCCAA	NM_014586	NP_055401	33296873	P57058	HUNK_HUMAN	0			2	715	+	T	T			Missense_Mutation	119			Protein kinase.			
HUNK	0	broad.mit.edu	GRCh37	21	33370854	33370854	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01	TCGA-27-2519-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000270112.2:c.1502G>A	p.Arg501His	p.R501H	ENST00000270112	NM_014586.1	501	cGc/cAc	0			1			A	R/H	uc002yph.2	protein_coding	YES	CCDS13610.1			1502/2145									stomach(1)|skin(1)	2	c.(1501-1503)CGC>CAC			hmmpanther:PTHR24343:SF152,hmmpanther:PTHR24343	hormonally upregulated Neu-associated kinase				ENSP00000270112		11-Nov	1.65E-05					1.55E-05		9.55E-05	rs748171279,COSM3405357	11-Nov	.		ENST00000270112	Transcript			multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	ENSG00000142149	g.chr21:33370854G>A	13326			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=HUNK_HUMAN&rb=439&re=712&var=R501H	NA	getma.org/?cm=var&var=hg19,21,33370854,G,A&fts=all	R501H	--	--	1																																			0,1	1		possibly_damaging(0.655)	p.R501H	NM_014586	NP_055401		tolerated_low_confidence(0.1)	0,1	HUNK_HUMAN	HUNK	HGNC	P57058	HUNK_HUMAN					11	1862	+			UPI0000035B66	501					SNV	HUNK,missense_variant,p.Arg501His,ENST00000270112,NM_014586.1;HUNK,intron_variant,,ENST00000439107,;HUNK,downstream_gene_variant,,ENST00000465574,;	uc002yph.2	c.1502G>A	1862/7385	2	2			c.1502G>A						21	SNP	c.(1501-1503)CGC>CAC	45	45			stomach(1)|skin(1)	2	Broad	hormonally upregulated Neu-associated kinase			33370854		0.527	ENSG00000142149	7327	g.chr21:33370854G>A	multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			285			285	-52.784442	KEEP	2	3	-1	139	143	2	3	-1	6.686687	139	143	0.017621	1	0	0	0	0	1	0	0	0	--	--		0	A				199	GBM-27-2519-TP	p.R501H	G	TTTGGCTGCCGCAATATTTTC	NM_014586	NP_055401	33370854	P57058	HUNK_HUMAN	0			11	1862	+	A	A			Missense_Mutation	501						
HUS1B	0	broad.mit.edu	GRCh37	6	656375	656375	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0871-01	TCGA-14-0871-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380907.2:c.570C>T	p.Thr190=	p.T190=	ENST00000380907	NM_148959.3	190	acC/acT	0			1			A	T	uc003mtg.2	protein_coding	YES	CCDS4470.1			570/837										0	c.(568-570)ACC>ACT			hmmpanther:PTHR12900,hmmpanther:PTHR12900:SF1,Pfam_domain:PF04005,PIRSF_domain:PIRSF011312	HUS1 checkpoint protein B				ENSP00000370293		1-Jan									COSM3411244	1-Jan	.		ENST00000380907	Transcript						ENSG00000188996	g.chr6:656375G>A	16485			LOW								--	--	1																																		EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron	1	1			p.T190T	NM_148959	NP_683762			1	HUS1B_HUMAN	HUS1B	HGNC	Q8NHY5	HUS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)			1	590	-	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	UPI000019C420	190					SNV	HUS1B,synonymous_variant,p.=,ENST00000380907,NM_148959.3;EXOC2,intron_variant,,ENST00000230449,NM_018303.5;EXOC2,intron_variant,,ENST00000448181,;EXOC2,intron_variant,,ENST00000443083,;	uc003mtg.2	c.570C>T	589/1025	2	2			c.570C>T						6	SNP	c.(568-570)ACC>ACT	24	24				0	Broad	HUS1 checkpoint protein B			656375		0.562	ENSG00000188996	7329	g.chr6:656375G>A										-48.903017	KEEP	6	0	-1	149	107	6	0	-1	8.392241	149	107	0.022222	1	0	0	0	0	0	0	1	0	--	--		0	A			EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron	141	GBM-14-0871-TP	p.T190T	G	CTATACTCAGGGTCATCCTGC	NM_148959	NP_683762	656375	Q8NHY5	HUS1B_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)	1	590	-	A	A	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	Silent	190						
HUWE1	10075	broad.mit.edu	GRCh37	X	53573431	53573431	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0876-01	TCGA-06-0876-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342160.3:c.10881C>T	p.Ala3627=	p.A3627=	ENST00000342160		3627	gcC/gcT	0			1			A	A	uc004dsp.2	protein_coding		CCDS35301.1			10881/13125									ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17	c.(10879-10881)GCC>GCT			hmmpanther:PTHR11254:SF67,hmmpanther:PTHR11254	HECT, UBA and WWE domain containing 1				ENSP00000262854		70/84									COSM2152061,COSM2152060	70/84	.		ENST00000262854	Transcript	1		base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	ENSG00000086758	g.chrX:53573431G>A	30892			LOW								--	--	1																																		HUWE1_uc004dsn.2_Silent_p.A2435A|HUWE1_uc004dsq.1_5'Flank	1,1				p.A3627A	NM_031407	NP_113584			1,1	HUWE1_HUMAN	HUWE1	HGNC	Q7Z6Z7	HUWE1_HUMAN			Q5H963_HUMAN		70	11283	-			UPI00004A0DAC	3627					SNV	HUWE1,synonymous_variant,p.=,ENST00000342160,;HUWE1,synonymous_variant,p.=,ENST00000262854,NM_031407.5;HUWE1,synonymous_variant,p.=,ENST00000427052,;HUWE1,synonymous_variant,p.=,ENST00000426907,;HUWE1,non_coding_transcript_exon_variant,,ENST00000474288,;HUWE1,non_coding_transcript_exon_variant,,ENST00000468322,;HUWE1,upstream_gene_variant,,ENST00000463852,;	uc004dsp.2	c.10881C>T	11283/14692	2	2			c.10881C>T						23	SNP	c.(10879-10881)GCC>GCT	18	18			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17	Broad	HECT, UBA and WWE domain containing 1			53573431		0.403	ENSG00000086758	7330	g.chrX:53573431G>A	base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity							28.097642	KEEP	8	5	-1	32	19	8	5	-1	31.901235	32	19	0.215686	1	0	0	0	0	0	0	1	0	--	--		0	A			HUWE1_uc004dsn.2_Silent_p.A2435A|HUWE1_uc004dsq.1_5'Flank	72	GBM-06-0876-TP	p.A3627A	G	CCAGATGGCGGGCTCCATTCA	NM_031407	NP_113584	53573431	Q7Z6Z7	HUWE1_HUMAN	0			70	11283	-	A	A			Silent	3627						
HUWE1	10075	broad.mit.edu	GRCh37	X	53600812	53600812	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-1804-01	TCGA-06-1804-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342160.3:c.6210T>C	p.Thr2070=	p.T2070=	ENST00000342160		2070	acT/acC	0			1			G	T	uc004dsp.2	protein_coding		CCDS35301.1			6210/13125									ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17	c.(6208-6210)ACT>ACC			hmmpanther:PTHR11254:SF67,hmmpanther:PTHR11254	HECT, UBA and WWE domain containing 1				ENSP00000262854		47/84									COSM3406481,COSM3406480	47/84	.		ENST00000262854	Transcript	1		base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	ENSG00000086758	g.chrX:53600812A>G	30892			LOW								--	--	1																																		HUWE1_uc004dsn.2_Silent_p.T894T	1,1				p.T2070T	NM_031407	NP_113584			1,1	HUWE1_HUMAN	HUWE1	HGNC	Q7Z6Z7	HUWE1_HUMAN			Q5H963_HUMAN		47	6612	-			UPI00004A0DAC	2070					SNV	HUWE1,synonymous_variant,p.=,ENST00000342160,;HUWE1,synonymous_variant,p.=,ENST00000262854,NM_031407.5;HUWE1,synonymous_variant,p.=,ENST00000427052,;	uc004dsp.2	c.6210T>C	6612/14692	3	3			c.6210T>C						23	SNP	c.(6208-6210)ACT>ACC	7	7			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17	Broad	HECT, UBA and WWE domain containing 1			53600812		0.502	ENSG00000086758	7330	g.chrX:53600812A>G	base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity							-16.42398	KEEP	3	2	-1	51	79	3	2	-1	11.509092	51	79	0.04065	1	0	0	0	0	0	0	1	0	--	--		0	G			HUWE1_uc004dsn.2_Silent_p.T894T	79	GBM-06-1804-TP	p.T2070T	A	GACGAAGGATAGTGGAGGTAG	NM_031407	NP_113584	53600812	Q7Z6Z7	HUWE1_HUMAN	0			47	6612	-	G	G			Silent	2070						
HUWE1	0	broad.mit.edu	GRCh37	X	53576344	53576344	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0616-01	TCGA-12-0616-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262854.6:c.9611G>A	p.Arg3204His	p.R3204H	ENST00000262854	NM_031407.5	3204	cGt/cAt	0			1			T	R/H	uc004dsp.2	protein_coding		CCDS35301.1			9611/13125									ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17	c.(9610-9612)CGT>CAT			hmmpanther:PTHR11254:SF67,hmmpanther:PTHR11254	HECT, UBA and WWE domain containing 1				ENSP00000262854		67/84									COSM2153569,COSM2153568	67/84	.		ENST00000262854	Transcript	1		base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	ENSG00000086758	g.chrX:53576344C>T	30892			MODERATE		2.165	medium	getma.org/?cm=msa&ty=f&p=HUWE1_HUMAN&rb=3080&re=3279&var=R3204H	NA	getma.org/?cm=var&var=hg19,X,53576344,C,T&fts=all	R3204H	--	--	1																																		HUWE1_uc004dsn.2_Missense_Mutation_p.R2012H	1,1			possibly_damaging(0.522)	p.R3204H	NM_031407	NP_113584			1,1	HUWE1_HUMAN	HUWE1	HGNC	Q7Z6Z7	HUWE1_HUMAN			Q5H963_HUMAN		67	10013	-			UPI00004A0DAC	3204					SNV	HUWE1,missense_variant,p.Arg3204His,ENST00000342160,;HUWE1,missense_variant,p.Arg3204His,ENST00000262854,NM_031407.5;HUWE1,missense_variant,p.Arg2238His,ENST00000427052,;HUWE1,missense_variant,p.Arg42His,ENST00000426907,;HUWE1,upstream_gene_variant,,ENST00000474288,;HUWE1,upstream_gene_variant,,ENST00000468322,;	uc004dsp.2	c.9611G>A	10013/14692	2	2			c.9611G>A						23	SNP	c.(9610-9612)CGT>CAT	47	47			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17	Broad	HECT, UBA and WWE domain containing 1			53576344		0.557	ENSG00000086758	7330	g.chrX:53576344C>T	base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity							166.990921	KEEP	18	38	-1	50	52	18	38	-1	169.541145	50	52	0.361842	1	0	0	0	0	1	0	0	0	--	--		0	T			HUWE1_uc004dsn.2_Missense_Mutation_p.R2012H	118	GBM-12-0616-TP	p.R3204H	C	TCGGTGTAGACGGCTAGTATT	NM_031407	NP_113584	53576344	Q7Z6Z7	HUWE1_HUMAN	0			67	10013	-	T	T			Missense_Mutation	3204						
HUWE1	0	broad.mit.edu	GRCh37	X	53590731	53590731	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1823-01	TCGA-14-1823-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262854.6:c.7081G>A	p.Gly2361Arg	p.G2361R	ENST00000262854	NM_031407.5	2361	Gga/Aga	0			1			T	G/R	uc004dsp.2	protein_coding		CCDS35301.1			7081/13125									ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17	c.(7081-7083)GGA>AGA			hmmpanther:PTHR11254:SF67,hmmpanther:PTHR11254	HECT, UBA and WWE domain containing 1				ENSP00000262854		52/84									COSM220519,COSM3406479	52/84	.		ENST00000262854	Transcript	1		base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	ENSG00000086758	g.chrX:53590731C>T	30892			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=HUWE1_HUMAN&rb=2280&re=2425&var=G2361R	NA	getma.org/?cm=var&var=hg19,X,53590731,C,T&fts=all	G2361R	--	--	1																																		HUWE1_uc004dsn.2_Missense_Mutation_p.G1185R	1,1			benign(0.161)	p.G2361R	NM_031407	NP_113584			1,1	HUWE1_HUMAN	HUWE1	HGNC	Q7Z6Z7	HUWE1_HUMAN			Q5H963_HUMAN		52	7483	-			UPI00004A0DAC	2361			Glu-rich.		SNV	HUWE1,missense_variant,p.Gly2361Arg,ENST00000342160,;HUWE1,missense_variant,p.Gly2361Arg,ENST00000262854,NM_031407.5;HUWE1,missense_variant,p.Gly1395Arg,ENST00000427052,;	uc004dsp.2	c.7081G>A	7483/14692	1	1			c.7081G>A						23	SNP	c.(7081-7083)GGA>AGA	4	4			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17	Broad	HECT, UBA and WWE domain containing 1			53590731		0.453	ENSG00000086758	7330	g.chrX:53590731C>T	base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity							12.528495	KEEP	6	1	-1	19	18	6	1	-1	16.766363	19	18	0.157895	1	0	0	0	0	1	0	0	0	--	--		0	T			HUWE1_uc004dsn.2_Missense_Mutation_p.G1185R	147	GBM-14-1823-TP	p.G2361R	C	TTCCCAGATCCGCCATCCCTC	NM_031407	NP_113584	53590731	Q7Z6Z7	HUWE1_HUMAN	0			52	7483	-	T	T			Missense_Mutation	2361			Glu-rich.			
HUWE1	0	broad.mit.edu	GRCh37	X	53591568	53591568	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-19-5959-01	TCGA-19-5959-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262854.6:c.6996delG	p.Gln2333SerfsTer19	p.Q2333Sfs*19	ENST00000262854	NM_031407.5	2332	ggG/gg	0			1			-	G/X	uc004dsp.2	protein_coding		CCDS35301.1			6996/13125									ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17	c.(6994-6996)GGGfs			hmmpanther:PTHR11254:SF67,hmmpanther:PTHR11254	HECT, UBA and WWE domain containing 1				ENSP00000262854		51/84										51/84	.		ENST00000262854	Transcript	1		base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	ENSG00000086758	g.chrX:53591568delC	30892			HIGH								--	--	1																																		HUWE1_uc004dsn.2_Frame_Shift_Del_p.G1156fs					p.G2332fs	NM_031407	NP_113584				HUWE1_HUMAN	HUWE1	HGNC	Q7Z6Z7	HUWE1_HUMAN			Q5H963_HUMAN		51	7398	-			UPI00004A0DAC	2332			Glu-rich.		deletion	HUWE1,frameshift_variant,p.Gln2333SerfsTer19,ENST00000342160,;HUWE1,frameshift_variant,p.Gln2333SerfsTer19,ENST00000262854,NM_031407.5;HUWE1,frameshift_variant,p.Gln1367SerfsTer19,ENST00000427052,;	uc004dsp.2	c.6996delG	7398/14692	5	5			c.6996delG						23	DEL	c.(6994-6996)GGGfs	33	33			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17	Broad	HECT, UBA and WWE domain containing 1			53591568		0.562	ENSG00000086758	7330	g.chrX:53591568delC	base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity																				0.36	1	1	0	1	0	0	0	0	0	--	--		0	-			HUWE1_uc004dsn.2_Frame_Shift_Del_p.G1156fs	177	GBM-19-5959-TP	p.G2332fs	C	CCTCAGGCTGCCCAGCAATCA	NM_031407	NP_113584	53591568	Q7Z6Z7	HUWE1_HUMAN	0			51	7398	-	-	-			Frame_Shift_Del	2332			Glu-rich.			
HUWE1	0	broad.mit.edu	GRCh37	X	53569470	53569470	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5218-01	TCGA-28-5218-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262854.6:c.11410C>T	p.Arg3804Trp	p.R3804W	ENST00000262854	NM_031407.5	3804	Cgg/Tgg	0			1			A	R/W	uc004dsp.2	protein_coding		CCDS35301.1			11410/13125									ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17	c.(11410-11412)CGG>TGG			Low_complexity_(Seg):seg,hmmpanther:PTHR11254:SF67,hmmpanther:PTHR11254	HECT, UBA and WWE domain containing 1				ENSP00000262854		74/84	1.65E-05					2.09E-05			rs782423036,COSM3406477,COSM3406476	74/84	.		ENST00000262854	Transcript	1		base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	ENSG00000086758	g.chrX:53569470G>A	30892			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=HUWE1_HUMAN&rb=3680&re=3879&var=R3804W	NA	getma.org/?cm=var&var=hg19,X,53569470,G,A&fts=all	R3804W	--	--	1																																		HUWE1_uc004dsn.2_Missense_Mutation_p.R2612W|HUWE1_uc004dsq.1_Missense_Mutation_p.R104W	0,1,1			unknown(0)	p.R3804W	NM_031407	NP_113584			0,1,1	HUWE1_HUMAN	HUWE1	HGNC	Q7Z6Z7	HUWE1_HUMAN			Q5H963_HUMAN		74	11812	-			UPI00004A0DAC	3804					SNV	HUWE1,missense_variant,p.Arg3804Trp,ENST00000342160,;HUWE1,missense_variant,p.Arg3804Trp,ENST00000262854,NM_031407.5;HUWE1,missense_variant,p.Arg2838Trp,ENST00000427052,;HUWE1,missense_variant,p.Arg627Trp,ENST00000426907,;HUWE1,non_coding_transcript_exon_variant,,ENST00000468322,;HUWE1,non_coding_transcript_exon_variant,,ENST00000463852,;HUWE1,downstream_gene_variant,,ENST00000474288,;HUWE1,upstream_gene_variant,,ENST00000480438,;	uc004dsp.2	c.11410C>T	11812/14692	1	1			c.11410C>T						23	SNP	c.(11410-11412)CGG>TGG	56	56			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17	Broad	HECT, UBA and WWE domain containing 1			53569470		0.502	ENSG00000086758	7330	g.chrX:53569470G>A	base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity							-17.863753	KEEP	1	2	-1	60	55	1	2	-1	6.383217	60	55	0.03	1	0	0	0	0	1	0	0	0	--	--		0	A			HUWE1_uc004dsn.2_Missense_Mutation_p.R2612W|HUWE1_uc004dsq.1_Missense_Mutation_p.R104W	224	GBM-28-5218-TP	p.R3804W	G	TCCTCCCTCCGGACAGACGCC	NM_031407	NP_113584	53569470	Q7Z6Z7	HUWE1_HUMAN	0			74	11812	-	A	A			Missense_Mutation	3804						
HUWE1	0	broad.mit.edu	GRCh37	X	53571567	53571567	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2495-01	TCGA-32-2495-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262854.6:c.11205C>T	p.Asp3735=	p.D3735=	ENST00000262854	NM_031407.5	3735	gaC/gaT	0			1			A	D	uc004dsp.2	protein_coding		CCDS35301.1			11205/13125									ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17	c.(11203-11205)GAC>GAT			hmmpanther:PTHR11254:SF67,hmmpanther:PTHR11254	HECT, UBA and WWE domain containing 1				ENSP00000262854		72/84									COSM191507,COSM3406478	72/84	.		ENST00000262854	Transcript	1		base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	ENSG00000086758	g.chrX:53571567G>A	30892			LOW								--	--	1																																		HUWE1_uc004dsn.2_Silent_p.D2543D|HUWE1_uc004dsq.1_Silent_p.D50D	1,1				p.D3735D	NM_031407	NP_113584			1,1	HUWE1_HUMAN	HUWE1	HGNC	Q7Z6Z7	HUWE1_HUMAN			Q5H963_HUMAN		72	11607	-			UPI00004A0DAC	3735					SNV	HUWE1,synonymous_variant,p.=,ENST00000342160,;HUWE1,synonymous_variant,p.=,ENST00000262854,NM_031407.5;HUWE1,synonymous_variant,p.=,ENST00000427052,;HUWE1,synonymous_variant,p.=,ENST00000426907,;HUWE1,non_coding_transcript_exon_variant,,ENST00000474288,;HUWE1,intron_variant,,ENST00000468322,;HUWE1,upstream_gene_variant,,ENST00000463852,;	uc004dsp.2	c.11205C>T	11607/14692	2	2			c.11205C>T						23	SNP	c.(11203-11205)GAC>GAT	44	44			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17	Broad	HECT, UBA and WWE domain containing 1			53571567		0.552	ENSG00000086758	7330	g.chrX:53571567G>A	base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity							177.182072	KEEP	25	36	-1	23	25	25	36	-1	177.67674	23	25	0.575758	1	0	0	0	0	0	0	1	0	--	--		0	A			HUWE1_uc004dsn.2_Silent_p.D2543D|HUWE1_uc004dsq.1_Silent_p.D50D	237	GBM-32-2495-TP	p.D3735D	G	GGCGCGTGTCGTCCCGGAGCT	NM_031407	NP_113584	53571567	Q7Z6Z7	HUWE1_HUMAN	0			72	11607	-	A	A			Silent	3735						
HVCN1	0	broad.mit.edu	GRCh37	12	111099035	111099035	+	synonymous_variant	Silent	SNP	G	G	A	rs138491014		TCGA-28-5219-01	TCGA-28-5219-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000242607.8:c.240C>T	p.Pro80=	p.P80=	ENST00000242607	NM_032369.3	80	ccC/ccT	0	A:0.0005		1			A	P	uc001trs.1	protein_coding		CCDS31900.1			240/822									skin(1)	1	c.(238-240)CCC>CCT			Low_complexity_(Seg):seg,hmmpanther:PTHR12305,hmmpanther:PTHR12305:SF44	hydrogen voltage-gated channel 1			A:0	ENSP00000242607		8-Apr	6.59E-05	0.000681				1.51E-05			rs138491014,COSM3398344	8-Apr	common_variant		ENST00000242607	Transcript			response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	ENSG00000122986	g.chr12:111099035G>A	28240			LOW								--	--	1																																		HVCN1_uc001trq.1_Silent_p.P80P|HVCN1_uc001trt.1_Silent_p.P80P|HVCN1_uc010syd.1_Silent_p.P60P	0,1				p.P80P	NM_032369	NP_115745			0,1	HVCN1_HUMAN	HVCN1	HGNC	Q96D96	HVCN1_HUMAN			F8W0B3_HUMAN,F8VPF7_HUMAN		4	405	-			UPI0000038CA3	80			Cytoplasmic (Potential).		SNV	HVCN1,synonymous_variant,p.=,ENST00000356742,;HVCN1,synonymous_variant,p.=,ENST00000242607,NM_032369.3,NM_001040107.1;HVCN1,synonymous_variant,p.=,ENST00000548312,;HVCN1,synonymous_variant,p.=,ENST00000439744,NM_001256413.1;HVCN1,synonymous_variant,p.=,ENST00000549442,;HVCN1,downstream_gene_variant,,ENST00000546713,;HVCN1,intron_variant,,ENST00000547887,;	uc001trs.1	c.240C>T	421/1634	2	2			c.240C>T						12	SNP	c.(238-240)CCC>CCT	24	24			skin(1)	1	Broad	hydrogen voltage-gated channel 1			111099035		0.567	ENSG00000122986	7331	g.chr12:111099035G>A	response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity							122.824426	KEEP	28	27	-1	52	40	28	27	-1	124.659627	52	40	0.365217	1	0	0	0	0	0	0	1	0	--	--		0	A			HVCN1_uc001trq.1_Silent_p.P80P|HVCN1_uc001trt.1_Silent_p.P80P|HVCN1_uc010syd.1_Silent_p.P60P	225	GBM-28-5219-TP	p.P80P	G	CCCTGGGTGCGGGGCCAGGGG	NM_032369	NP_115745	111099035	Q96D96	HVCN1_HUMAN	0			4	405	-	A	A			Silent	80			Cytoplasmic (Potential).			
HVCN1	0	broad.mit.edu	GRCh37	12	111099056	111099056	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000242607.8:c.219C>T	p.Asp73=	p.D73=	ENST00000242607	NM_032369.3	73	gaC/gaT	0			1			A	D	uc001trs.1	protein_coding		CCDS31900.1			219/822									skin(1)	1	c.(217-219)GAC>GAT			Low_complexity_(Seg):seg,hmmpanther:PTHR12305,hmmpanther:PTHR12305:SF44	hydrogen voltage-gated channel 1				ENSP00000242607		8-Apr									COSM3398345	8-Apr	.		ENST00000242607	Transcript			response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	ENSG00000122986	g.chr12:111099056G>A	28240			LOW								--	--	1																																		HVCN1_uc001trq.1_Silent_p.D73D|HVCN1_uc001trt.1_Silent_p.D73D|HVCN1_uc010syd.1_Silent_p.D53D	1				p.D73D	NM_032369	NP_115745			1	HVCN1_HUMAN	HVCN1	HGNC	Q96D96	HVCN1_HUMAN			F8W0B3_HUMAN,F8VPF7_HUMAN		4	384	-			UPI0000038CA3	73			Cytoplasmic (Potential).		SNV	HVCN1,synonymous_variant,p.=,ENST00000356742,;HVCN1,synonymous_variant,p.=,ENST00000242607,NM_032369.3,NM_001040107.1;HVCN1,synonymous_variant,p.=,ENST00000548312,;HVCN1,synonymous_variant,p.=,ENST00000439744,NM_001256413.1;HVCN1,synonymous_variant,p.=,ENST00000549442,;HVCN1,synonymous_variant,p.=,ENST00000546713,;HVCN1,intron_variant,,ENST00000547887,;	uc001trs.1	c.219C>T	400/1634	1	1			c.219C>T						12	SNP	c.(217-219)GAC>GAT	60	60			skin(1)	1	Broad	hydrogen voltage-gated channel 1			111099056		0.527	ENSG00000122986	7331	g.chr12:111099056G>A	response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity							45.137169	KEEP	8	13	-1	29	32	8	13	-1	47.57277	29	32	0.290323	1	0	0	0	0	0	0	1	0	--	--		0	A			HVCN1_uc001trq.1_Silent_p.D73D|HVCN1_uc001trt.1_Silent_p.D73D|HVCN1_uc010syd.1_Silent_p.D53D	235	GBM-32-2491-TP	p.D73D	G	CAGGGGCAACGTCAGGGGCTG	NM_032369	NP_115745	111099056	Q96D96	HVCN1_HUMAN	0			4	384	-	A	A			Silent	73			Cytoplasmic (Potential).			
HVCN1	0	broad.mit.edu	GRCh37	12	111089040	111089040	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000242607.8:c.625G>T	p.Val209Leu	p.V209L	ENST00000242607	NM_032369.3	209	Gtg/Ttg	0			1			A	V/L	uc001trs.1	protein_coding		CCDS31900.1			625/822									skin(1)	1	c.(625-627)GTG>TTG			Low_complexity_(Seg):seg,hmmpanther:PTHR12305,hmmpanther:PTHR12305:SF44,Gene3D:1.20.120.350,Pfam_domain:PF00520,Superfamily_domains:SSF81324	hydrogen voltage-gated channel 1				ENSP00000242607		8-Jun									COSM3398343	8-Jun	.		ENST00000242607	Transcript			response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	ENSG00000122986	g.chr12:111089040C>A	28240			MODERATE		1.945	medium	getma.org/?cm=msa&ty=f&p=HVCN1_HUMAN&rb=141&re=229&var=V209L	NA	getma.org/?cm=var&var=hg19,12,111089040,C,A&fts=all	V209L	--	--	1																																		HVCN1_uc001trq.1_Missense_Mutation_p.V209L|HVCN1_uc001trt.1_Missense_Mutation_p.V209L|HVCN1_uc010syd.1_Missense_Mutation_p.V189L	1			probably_damaging(0.998)	p.V209L	NM_032369	NP_115745		deleterious(0)	1	HVCN1_HUMAN	HVCN1	HGNC	Q96D96	HVCN1_HUMAN			F8W0B3_HUMAN,F8VPF7_HUMAN		6	790	-			UPI0000038CA3	209			Helical; Name=Segment S4; (By similarity).		SNV	HVCN1,missense_variant,p.Val209Leu,ENST00000356742,;HVCN1,missense_variant,p.Val209Leu,ENST00000242607,NM_032369.3,NM_001040107.1;HVCN1,missense_variant,p.Val209Leu,ENST00000548312,;HVCN1,missense_variant,p.Val189Leu,ENST00000439744,NM_001256413.1;HVCN1,missense_variant,p.Val209Leu,ENST00000549442,;TCTN1,downstream_gene_variant,,ENST00000551590,;TCTN1,downstream_gene_variant,,ENST00000397659,NM_001173975.1,NM_001082537.2,NM_001082538.2,NM_001173976.1;TCTN1,downstream_gene_variant,,ENST00000397655,NM_024549.5;TCTN1,downstream_gene_variant,,ENST00000377654,;TCTN1,downstream_gene_variant,,ENST00000549123,;TCTN1,downstream_gene_variant,,ENST00000460357,;TCTN1,downstream_gene_variant,,ENST00000397656,;TCTN1,downstream_gene_variant,,ENST00000464809,;TCTN1,downstream_gene_variant,,ENST00000495659,;TCTN1,downstream_gene_variant,,ENST00000480648,;TCTN1,downstream_gene_variant,,ENST00000490514,;TCTN1,downstream_gene_variant,,ENST00000552038,;TCTN1,downstream_gene_variant,,ENST00000481093,;TCTN1,downstream_gene_variant,,ENST00000485445,;TCTN1,downstream_gene_variant,,ENST00000491068,;TCTN1,downstream_gene_variant,,ENST00000463313,;HVCN1,downstream_gene_variant,,ENST00000547887,;TCTN1,downstream_gene_variant,,ENST00000547461,;	uc001trs.1	c.625G>T	806/1634	1	1			c.625G>T						12	SNP	c.(625-627)GTG>TTG	51	51			skin(1)	1	Broad	hydrogen voltage-gated channel 1			111089040		0.602	ENSG00000122986	7331	g.chr12:111089040C>A	response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity							-16.257719	KEEP	2	1	0.333333333	58	45	2	1	0.333333333	6.836743	58	45	0.03125	1	0	0	0	0	1	0	0	0	--	--		0	A			HVCN1_uc001trq.1_Missense_Mutation_p.V209L|HVCN1_uc001trt.1_Missense_Mutation_p.V209L|HVCN1_uc010syd.1_Missense_Mutation_p.V189L	246	GBM-32-4211-TP	p.V209L	C	ATCCGGGCCACCCGCCACAGC	NM_032369	NP_115745	111089040	Q96D96	HVCN1_HUMAN	0			6	790	-	A	A			Missense_Mutation	209			Helical; Name=Segment S4; (By similarity).			
HYAL4	0	broad.mit.edu	GRCh37	7	123508443	123508443	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01	TCGA-28-5207-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000223026.4:c.116G>A	p.Arg39Gln	p.R39Q	ENST00000223026	NM_012269.2	39	cGa/cAa	0			1			A	R/Q	uc003vlc.2	protein_coding	YES	CCDS5789.1			116/1446									skin(1)	1	c.(115-117)CGA>CAA			Gene3D:3.20.20.70,PIRSF_domain:PIRSF038193,hmmpanther:PTHR11769,hmmpanther:PTHR11769:SF7	hyaluronoglucosaminidase 4				ENSP00000223026		5-Mar									COSM1084955	5-Mar	.		ENST00000223026	Transcript			fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	ENSG00000106302	g.chr7:123508443G>A	5323			MODERATE		0.95	low	getma.org/?cm=msa&ty=f&p=HYAL4_HUMAN&rb=37&re=374&var=R39Q	getma.org/pdb.php?prot=HYAL4_HUMAN&from=37&to=374&var=R39Q	getma.org/?cm=var&var=hg19,7,123508443,G,A&fts=all	R39Q	--	--	1																																		HYAL4_uc011knz.1_Missense_Mutation_p.R39Q	1	1		benign(0.008)	p.R39Q	NM_012269	NP_036401		tolerated(0.67)	1	HYAL4_HUMAN	HYAL4	HGNC	Q2M3T9	HYAL4_HUMAN			C9JU18_HUMAN,C9J6F9_HUMAN		3	754	+			UPI000006F62B	39			Extracellular (Potential).		SNV	HYAL4,missense_variant,p.Arg39Gln,ENST00000223026,NM_012269.2;HYAL4,missense_variant,p.Arg39Gln,ENST00000476325,;HYAL4,missense_variant,p.Arg39Gln,ENST00000489978,;HYAL4,missense_variant,p.Arg39Gln,ENST00000488323,;HYAL4,missense_variant,p.Arg39Gln,ENST00000483878,;	uc003vlc.2	c.116G>A	754/2407	1	1			c.116G>A						7	SNP	c.(115-117)CGA>CAA	59	59			skin(1)	1	Broad	hyaluronoglucosaminidase 4			123508443		0.323	ENSG00000106302	7335	g.chr7:123508443G>A	fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity							-30.19948	KEEP	9	8	-1	153	158	9	8	-1	36.171214	153	158	0.053797	1	0	0	0	0	1	0	0	0	--	--		0	A			HYAL4_uc011knz.1_Missense_Mutation_p.R39Q	216	GBM-28-5207-TP	p.R39Q	G	AAACCTGCTCGACTTCCAATT	NM_012269	NP_036401	123508443	Q2M3T9	HYAL4_HUMAN	0			3	754	+	A	A			Missense_Mutation	39			Extracellular (Potential).			
HYAL4	23553		GRCh37	7	123508674	123508674	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000223026.4:c.347T>C	p.Ile116Thr	p.I116T	ENST00000223026	NM_012269.2	116	aTa/aCa	0																																																																																																																																																																																																																																												
HYDIN	54768	broad.mit.edu	GRCh37	16	71004595	71004595	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-2485-01	TCGA-02-2485-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393567.2:c.5447G>A	p.Arg1816His	p.R1816H	ENST00000393567	NM_001270974.1	1816	cGt/cAt	0		T:0	1	T:0		T	R/H	uc002ezr.2	protein_coding	YES	CCDS59269.1			5447/15366									ovary(1)|skin(1)	2	c.(5443-5445)CGT>CAT			hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5	hydrocephalus inducing isoform a		T:0		ENSP00000377197	T:0	36/86	9.95E-05		0.00103			2.34E-05			rs368636754,COSM3402453,COSM3402454	36/86	common_variant		ENST00000393567	Transcript	1	T:0.0002				ENSG00000157423	g.chr16:71004595C>T	19368			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=HYDIN_HUMAN&rb=1&re=1902&var=R1816H	NA	getma.org/?cm=var&var=hg19,16,71004595,C,T&fts=all	R1816H	--	--	1																																			0,1,1	1		benign(0)	p.R1815H	NM_032821	NP_116210	T:0.001		0,1,1	HYDIN_HUMAN	HYDIN	HGNC	Q4G0P3	HYDIN_HUMAN			K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN		36	5572	-		Ovarian(137;0.0654)	UPI0001FEF4F9	1816					SNV	HYDIN,missense_variant,p.Arg1816His,ENST00000393567,NM_001270974.1;HYDIN,non_coding_transcript_exon_variant,,ENST00000309900,;HYDIN,non_coding_transcript_exon_variant,,ENST00000543521,;	uc002ezr.2	c.5444G>A	5598/15719	2	2			c.5444G>A						16	SNP	c.(5443-5445)CGT>CAT	48	48			ovary(1)|skin(1)	2	Broad	hydrocephalus inducing isoform a			71004595		0.507	ENSG00000157423	7336	g.chr16:71004595C>T										48.864176	KEEP	15	21	-1	28	42	15	21	-1	49.362343	28	42	0.386364	1	0	0	0	0	1	0	0	0	--	--		0	T				7	GBM-02-2485-TP	p.R1815H	C	ACCTTGCCCACGTGCCAGGAG	NM_032821	NP_116210	71004595	Q4G0P3	HYDIN_HUMAN	0			36	5572	-	T	T		Ovarian(137;0.0654)	Missense_Mutation	1816						
HYDIN	54768	broad.mit.edu	GRCh37	16	70867931	70867931	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393567.2:c.13538G>A	p.Arg4513His	p.R4513H	ENST00000393567	NM_001270974.1	4513	cGc/cAc	0	T:0	T:0.0008	1	T:0		T	R/H	uc002ezr.2	protein_coding	YES	CCDS59269.1			13538/15366									ovary(1)|skin(1)	2	c.(13534-13536)CGC>CAC			hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5	hydrocephalus inducing isoform a		T:0.001	T:0.0018	ENSP00000377197	T:0.002	79/86	0.000822	0.000443	0.00295	0.00476		0.00279	0.00532	0.000531	rs201554059,COSM558697,COSM558698	79/86	common_variant		ENST00000393567	Transcript	1	T:0.0008				ENSG00000157423	g.chr16:70867931C>T	19368			MODERATE		2.36	medium	getma.org/?cm=msa&ty=f&p=HYDIN_HUMAN&rb=2724&re=4636&var=R4513H	NA	getma.org/?cm=var&var=hg19,16,70867931,C,T&fts=all	R4513H	--	--	1																																		HYDIN_uc010cfy.2_RNA	0,1,1	1		probably_damaging(0.923)	p.R4512H	NM_032821	NP_116210	T:0		0,1,1	HYDIN_HUMAN	HYDIN	HGNC	Q4G0P3	HYDIN_HUMAN			K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN		79	13663	-		Ovarian(137;0.0654)	UPI0001FEF4F9	4513					SNV	HYDIN,missense_variant,p.Arg4513His,ENST00000393567,NM_001270974.1;HYDIN,3_prime_UTR_variant,,ENST00000378856,;	uc002ezr.2	c.13535G>A	13689/15719	2	2			c.13535G>A						16	SNP	c.(13534-13536)CGC>CAC	42	42			ovary(1)|skin(1)	2	Broad	hydrocephalus inducing isoform a			70867931		0.557	ENSG00000157423	7336	g.chr16:70867931C>T										77.524055	KEEP	25	16	-1	37	18	25	16	-1	78.140316	37	18	0.627907	1	0	0	0	0	1	0	0	0	--	--		0	T			HYDIN_uc010cfy.2_RNA	23	GBM-06-0145-TP	p.R4512H	C	GAAGAGGGGGCGCAGGAGCCC	NM_032821	NP_116210	70867931	Q4G0P3	HYDIN_HUMAN	0			79	13663	-	T	T		Ovarian(137;0.0654)	Missense_Mutation	4513						
HYDIN	54768	broad.mit.edu	GRCh37	16	71026070	71026070	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0145-01	TCGA-06-0145-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393567.2:c.3688C>A	p.Gln1230Lys	p.Q1230K	ENST00000393567	NM_001270974.1	1230	Cag/Aag	0			1			T	Q/K	uc002ezr.2	protein_coding	YES	CCDS59269.1			3688/15366									ovary(1)|skin(1)	2	c.(3688-3690)CAG>AAG			hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5	hydrocephalus inducing isoform a				ENSP00000377197		24/86									COSM2149744,COSM2149745	24/86	.		ENST00000393567	Transcript	1					ENSG00000157423	g.chr16:71026070G>T	19368			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=HYDIN_HUMAN&rb=1&re=1902&var=Q1230K	NA	getma.org/?cm=var&var=hg19,16,71026070,G,T&fts=all	Q1230K	--	--	1																																			1,1	1		benign(0.025)	p.Q1230K	NM_032821	NP_116210			1,1	HYDIN_HUMAN	HYDIN	HGNC	Q4G0P3	HYDIN_HUMAN			K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN		24	3816	-		Ovarian(137;0.0654)	UPI0001FEF4F9	1230					SNV	HYDIN,missense_variant,p.Gln1230Lys,ENST00000393567,NM_001270974.1;HYDIN,missense_variant,p.Gln1182Lys,ENST00000448089,;HYDIN,missense_variant,p.Gln800Lys,ENST00000393552,;	uc002ezr.2	c.3688C>A	3839/15719	2	2			c.3688C>A						16	SNP	c.(3688-3690)CAG>AAG	48	48			ovary(1)|skin(1)	2	Broad	hydrocephalus inducing isoform a			71026070		0.498	ENSG00000157423	7336	g.chr16:71026070G>T										152.088539	KEEP	28	23	0.549019608	36	35	28	23	0.549019608	152.334651	36	35	0.448598	1	0	0	0	0	1	0	0	0	--	--		0	T				23	GBM-06-0145-TP	p.Q1230K	G	GACTCCATCTGGGACACTGGG	NM_032821	NP_116210	71026070	Q4G0P3	HYDIN_HUMAN	0			24	3816	-	T	T		Ovarian(137;0.0654)	Missense_Mutation	1230						
HYDIN	54768	broad.mit.edu	GRCh37	16	70913364	70913364	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393567.2:c.10393G>A	p.Val3465Met	p.V3465M	ENST00000393567	NM_001270974.1	3465	Gtg/Atg	0	T:0.0003	T:0	1	T:0		T	V/M	uc002ezr.2	protein_coding	YES	CCDS59269.1			10393/15366									ovary(1)|skin(1)	2	c.(10390-10392)GTG>ATG			hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5	hydrocephalus inducing isoform a		T:0.001	T:0	ENSP00000377197	T:0	62/86	4.14E-05	0.000104		0.000116		4.58E-05			rs373714588,COSM3402451,COSM3402452	62/86	.		ENST00000393567	Transcript	1	T:0.0002				ENSG00000157423	g.chr16:70913364C>T	19368			MODERATE		1.78	low	getma.org/?cm=msa&ty=f&p=HYDIN_HUMAN&rb=2724&re=4636&var=V3465M	NA	getma.org/?cm=var&var=hg19,16,70913364,C,T&fts=all	V3465M	--	--	1																																			0,1,1	1		benign(0.212)	p.V3464M	NM_032821	NP_116210	T:0		0,1,1	HYDIN_HUMAN	HYDIN	HGNC	Q4G0P3	HYDIN_HUMAN			K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN		62	10518	-		Ovarian(137;0.0654)	UPI0001FEF4F9	3465					SNV	HYDIN,missense_variant,p.Val3465Met,ENST00000393567,NM_001270974.1;	uc002ezr.2	c.10390G>A	10544/15719	1	1			c.10390G>A						16	SNP	c.(10390-10392)GTG>ATG	13	13			ovary(1)|skin(1)	2	Broad	hydrocephalus inducing isoform a			70913364		0.567	ENSG00000157423	7336	g.chr16:70913364C>T										52.739775	KEEP	20	8	-1	47	41	20	8	-1	56.16474	47	41	0.276316	1	0	0	0	0	1	0	0	0	--	--		0	T				68	GBM-06-0747-TP	p.V3464M	C	ATGTCAAACACGAGGCCTCGG	NM_032821	NP_116210	70913364	Q4G0P3	HYDIN_HUMAN	0			62	10518	-	T	T		Ovarian(137;0.0654)	Missense_Mutation	3465						
HYDIN	54768	broad.mit.edu	GRCh37	16	70977832	70977832	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6389-01	TCGA-06-6389-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393567.2:c.6552C>T	p.Pro2184=	p.P2184=	ENST00000393567	NM_001270974.1	2184	ccC/ccT	0	A:0		1			A	P	uc002ezr.2	protein_coding	YES	CCDS59269.1			6552/15366									ovary(1)|skin(1)	2	c.(6547-6549)CCC>CCT			hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5	hydrocephalus inducing isoform a			A:0.0001	ENSP00000377197		42/86	1.66E-05					4.41E-05			rs368359335	42/86	.		ENST00000393567	Transcript	1					ENSG00000157423	g.chr16:70977832G>A	19368			LOW								--	--	1																																				1			p.P2183P	NM_032821	NP_116210				HYDIN_HUMAN	HYDIN	HGNC	Q4G0P3	HYDIN_HUMAN			K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN		42	6677	-		Ovarian(137;0.0654)	UPI0001FEF4F9	2184					SNV	HYDIN,synonymous_variant,p.=,ENST00000393567,NM_001270974.1;HYDIN,intron_variant,,ENST00000309900,;HYDIN,intron_variant,,ENST00000543521,;	uc002ezr.2	c.6549C>T	6703/15719	2	2			c.6549C>T						16	SNP	c.(6547-6549)CCC>CCT	29	29			ovary(1)|skin(1)	2	Broad	hydrocephalus inducing isoform a			70977832		0.368	ENSG00000157423	7336	g.chr16:70977832G>A										6.215525	KEEP	3	2	-1	8	4	3	2	-1	7.272872	8	4	0.214286	1	0	0	0	0	0	0	1	0	--	--		0	A				105	GBM-06-6389-TP	p.P2183P	G	TGGGCCCCGGGGGGAGAGGGC	NM_032821	NP_116210	70977832	Q4G0P3	HYDIN_HUMAN	0			42	6677	-	A	A		Ovarian(137;0.0654)	Silent	2184						
HYDIN	0	broad.mit.edu	GRCh37	16	70908762	70908762	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01	TCGA-41-2572-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393567.2:c.10618G>A	p.Ala3540Thr	p.A3540T	ENST00000393567	NM_001270974.1	3540	Gcg/Acg	0			1			T	A/T	uc002ezr.2	protein_coding	YES	CCDS59269.1			10618/15366									ovary(1)|skin(1)	2	c.(10615-10617)GCG>ACG			hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5	hydrocephalus inducing isoform a				ENSP00000377197		63/86	4.14E-05					4.84E-05		0.000139	rs774036864,COSM3273777,COSM3273778	63/86	.		ENST00000393567	Transcript	1					ENSG00000157423	g.chr16:70908762C>T	19368			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=HYDIN_HUMAN&rb=2724&re=4636&var=A3540T	NA	getma.org/?cm=var&var=hg19,16,70908762,C,T&fts=all	A3540T	--	--	1																																			0,1,1	1		benign(0.001)	p.A3539T	NM_032821	NP_116210			0,1,1	HYDIN_HUMAN	HYDIN	HGNC	Q4G0P3	HYDIN_HUMAN			K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN		63	10743	-		Ovarian(137;0.0654)	UPI0001FEF4F9	3540					SNV	HYDIN,missense_variant,p.Ala3540Thr,ENST00000393567,NM_001270974.1;AC027281.1,upstream_gene_variant,,ENST00000411384,;	uc002ezr.2	c.10615G>A	10769/15719	1	1			c.10615G>A						16	SNP	c.(10615-10617)GCG>ACG	4	4			ovary(1)|skin(1)	2	Broad	hydrocephalus inducing isoform a			70908762		0.507	ENSG00000157423	7336	g.chr16:70908762C>T										78.534239	KEEP	19	18	-1	33	28	19	18	-1	79.270032	33	28	0.38806	1	0	0	0	0	1	0	0	0	--	--		0	T				251	GBM-41-2572-TP	p.A3539T	C	TAGATATACGCGGTGGTGGGC	NM_032821	NP_116210	70908762	Q4G0P3	HYDIN_HUMAN	0			63	10743	-	T	T		Ovarian(137;0.0654)	Missense_Mutation	3540						
HYDIN	0	broad.mit.edu	GRCh37	16	70917889	70917889	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01	TCGA-76-4928-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393567.2:c.9913G>A	p.Gly3305Ser	p.G3305S	ENST00000393567	NM_001270974.1	3305	Ggc/Agc	0	T:0	T:0	1	T:0.0014		T	G/S	uc002ezr.2	protein_coding	YES	CCDS59269.1			9913/15366									ovary(1)|skin(1)	2	c.(9910-9912)GGC>AGC			hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5	hydrocephalus inducing isoform a		T:0	T:0.0001	ENSP00000377197	T:0	59/86	9.92E-05		8.66E-05			0.000165			rs185616885,COSM1379396,COSM1379397	59/86	.		ENST00000393567	Transcript	1	T:0.0002				ENSG00000157423	g.chr16:70917889C>T	19368			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=HYDIN_HUMAN&rb=2724&re=4636&var=G3305S	NA	getma.org/?cm=var&var=hg19,16,70917889,C,T&fts=all	G3305S	--	--	1																																			0,1,1	1		benign(0.023)	p.G3304S	NM_032821	NP_116210	T:0		0,1,1	HYDIN_HUMAN	HYDIN	HGNC	Q4G0P3	HYDIN_HUMAN			K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN		59	10038	-		Ovarian(137;0.0654)	UPI0001FEF4F9	3305					SNV	HYDIN,missense_variant,p.Gly3305Ser,ENST00000393567,NM_001270974.1;	uc002ezr.2	c.9910G>A	10064/15719	1	1			c.9910G>A						16	SNP	c.(9910-9912)GGC>AGC	13	13			ovary(1)|skin(1)	2	Broad	hydrocephalus inducing isoform a			70917889		0.532	ENSG00000157423	7336	g.chr16:70917889C>T										45.365157	KEEP	12	11	-1	32	38	12	11	-1	49.458963	32	38	0.253333	1	0	0	0	0	1	0	0	0	--	--		0	T				268	GBM-76-4928-TP	p.G3304S	C	GGGTCTCGGCCGGAGATATCG	NM_032821	NP_116210	70917889	Q4G0P3	HYDIN_HUMAN	0			59	10038	-	T	T		Ovarian(137;0.0654)	Missense_Mutation	3305						
HYI	0	broad.mit.edu	GRCh37	1	43917642	43917642	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-5207-01	TCGA-28-5207-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372425.4:c.469A>G	p.Thr157Ala	p.T157A	ENST00000372425		157	Act/Gct	0			1			C	T/A	uc001cjo.2	protein_coding	YES	CCDS53309.1			469/834									ovary(1)	1	c.(469-471)ACT>GCT			Gene3D:3.20.20.150,Pfam_domain:PF01261,PIRSF_domain:PIRSF006241,hmmpanther:PTHR12110,hmmpanther:PTHR12110:SF3,Superfamily_domains:SSF51658	hydroxypyruvate isomerase homolog				ENSP00000361502		8-Apr									COSM2157350,COSM2157349	8-Apr	.		ENST00000372425	Transcript					hydroxypyruvate isomerase activity	ENSG00000178922	g.chr1:43917642T>C	26948			MODERATE		1.155	low	getma.org/?cm=msa&ty=f&p=HYI_HUMAN&rb=24&re=230&var=T157A	getma.org/pdb.php?prot=HYI_HUMAN&from=24&to=230&var=T157A	getma.org/?cm=var&var=hg19,1,43917642,T,C&fts=all	T157A	--	--	1																																		KIAA0467_uc001cjk.1_3'UTR|KIAA0467_uc001cjl.1_3'UTR|HYI_uc001cjm.2_Missense_Mutation_p.T84A|HYI_uc001cjn.2_Missense_Mutation_p.T157A|HYI_uc001cjp.2_Missense_Mutation_p.T84A	1,1	1		possibly_damaging(0.686)	p.T157A	NM_031207	NP_112484		deleterious(0.01)	1,1	HYI_HUMAN	HYI	HGNC	Q5T013	HYI_HUMAN					4	639	-	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	UPI0000EE302B	157					SNV	HYI,missense_variant,p.Thr84Ala,ENST00000583037,NM_001190880.2;HYI,missense_variant,p.Thr157Ala,ENST00000372425,;HYI,missense_variant,p.Thr157Ala,ENST00000372432,NM_031207.5;HYI,missense_variant,p.Thr182Ala,ENST00000372434,NM_001243526.1;HYI,missense_variant,p.Thr157Ala,ENST00000486909,;HYI,missense_variant,p.Thr123Ala,ENST00000372433,;HYI,missense_variant,p.Thr118Ala,ENST00000372430,;HYI,missense_variant,p.Thr109Ala,ENST00000372426,;HYI,missense_variant,p.Thr76Ala,ENST00000470662,;HYI,missense_variant,p.Thr81Ala,ENST00000487366,;SZT2,3_prime_UTR_variant,,ENST00000562955,NM_015284.3;SZT2,3_prime_UTR_variant,,ENST00000372442,;SZT2-AS1,upstream_gene_variant,,ENST00000396885,;HYI-AS1,upstream_gene_variant,,ENST00000444386,;SZT2,non_coding_transcript_exon_variant,,ENST00000460536,;HYI,non_coding_transcript_exon_variant,,ENST00000372427,;HYI,non_coding_transcript_exon_variant,,ENST00000496142,;HYI,downstream_gene_variant,,ENST00000469587,;HYI,upstream_gene_variant,,ENST00000483618,;	uc001cjo.2	c.469A>G	665/1115	4	4			c.469A>G						1	SNP	c.(469-471)ACT>GCT	47	47			ovary(1)	1	Broad	hydroxypyruvate isomerase homolog			43917642		0.587	ENSG00000178922	7337	g.chr1:43917642T>C			hydroxypyruvate isomerase activity							88.783148	KEEP	18	17	-1	33	28	18	17	-1	90.202614	33	28	0.361446	1	0	0	0	0	1	0	0	0	--	--		0	C			KIAA0467_uc001cjk.1_3'UTR|KIAA0467_uc001cjl.1_3'UTR|HYI_uc001cjm.2_Missense_Mutation_p.T84A|HYI_uc001cjn.2_Missense_Mutation_p.T157A|HYI_uc001cjp.2_Missense_Mutation_p.T84A	216	GBM-28-5207-TP	p.T157A	T	TGGGGGTCAGTGATGCGGGTG	NM_031207	NP_112484	43917642	Q5T013	HYI_HUMAN	0			4	639	-	C	C	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	Missense_Mutation	157						
HYOU1	10525	broad.mit.edu	GRCh37	11	118919049	118919049	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0646-01	TCGA-06-0646-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000404233.3:c.2287del	p.Ser763ProfsTer30	p.S763Pfs*30	ENST00000404233	NM_001130991.1	763	Tcc/cc	0			1			-	S/X	uc001puu.2	protein_coding	YES	CCDS8408.1			2287/3000										0	c.(2287-2289)TCCfs			hmmpanther:PTHR19375:SF90,hmmpanther:PTHR19375,Gene3D:1.20.1270.10,Pfam_domain:PF00012,Superfamily_domains:SSF100934	hypoxia up-regulated 1 precursor				ENSP00000384144		20/26									COSM2151319	20/26	.		ENST00000404233	Transcript				endoplasmic reticulum lumen	ATP binding|protein binding	ENSG00000149428	g.chr11:118919049delA	16931			HIGH								--	--	1																																		HYOU1_uc001put.2_Frame_Shift_Del_p.S728fs|HYOU1_uc010ryu.1_Frame_Shift_Del_p.S721fs|HYOU1_uc010ryv.1_Frame_Shift_Del_p.S652fs|HYOU1_uc001pux.3_Frame_Shift_Del_p.S763fs	1	1			p.S763fs	NM_006389	NP_006380			1	HYOU1_HUMAN	HYOU1	HGNC	Q9Y4L1	HYOU1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)	J3QQH7_HUMAN,J3QLE9_HUMAN,J3QL06_HUMAN,J3KTF1_HUMAN,J3KT27_HUMAN,J3KSJ2_HUMAN,E9PJ21_HUMAN		20	2480	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)	UPI0000130F72	763					deletion	HYOU1,frameshift_variant,p.Ser763ProfsTer30,ENST00000404233,NM_001130991.1,NM_006389.3;HYOU1,frameshift_variant,p.Ser701ProfsTer30,ENST00000529972,;HYOU1,frameshift_variant,p.Ser701ProfsTer30,ENST00000525859,;HYOU1,downstream_gene_variant,,ENST00000543287,;HYOU1,downstream_gene_variant,,ENST00000530473,;RP11-110I1.6,downstream_gene_variant,,ENST00000531886,;HYOU1,downstream_gene_variant,,ENST00000532519,;HYOU1,downstream_gene_variant,,ENST00000531694,;HYOU1,upstream_gene_variant,,ENST00000527738,;HYOU1,downstream_gene_variant,,ENST00000531682,;	uc001puu.2	c.2287delT	2412/4530	5	5			c.2287delT						11	DEL	c.(2287-2289)TCCfs	7	7				0	Broad	hypoxia up-regulated 1 precursor			118919049		0.617	ENSG00000149428	7339	g.chr11:118919049delA		endoplasmic reticulum lumen	ATP binding|protein binding																				0.36	1	1	0	1	0	0	0	0	0	--	--		0	-			HYOU1_uc001put.2_Frame_Shift_Del_p.S728fs|HYOU1_uc010ryu.1_Frame_Shift_Del_p.S721fs|HYOU1_uc010ryv.1_Frame_Shift_Del_p.S652fs|HYOU1_uc001pux.3_Frame_Shift_Del_p.S763fs	60	GBM-06-0646-TP	p.S763fs	A	TCCTCTGTGGACACTTCCTGG	NM_006389	NP_006380	118919049	Q9Y4L1	HYOU1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)	20	2480	-	-	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)	Frame_Shift_Del	763						
IAH1	285148		GRCh37	2	9628296	9628296	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000497473.1:c.585A>G	p.Ser195=	p.S195=	ENST00000497473	NM_001039613.1	195	tcA/tcG	0																																																																																																																																																																																																																																												
IARS	3376	broad.mit.edu	GRCh37	9	95004467	95004467	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0141-01	TCGA-06-0141-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375643.3:c.3146C>G	p.Ser1049Trp	p.S1049W	ENST00000375643	NM_013417.3	1049	tCg/tGg	0			1			C	S/W	uc004art.1	protein_coding	YES	CCDS6694.1			3146/3789									ovary(1)|skin(1)	2	c.(3145-3147)TCG>TGG			HAMAP:MF_02003	isoleucine tRNA synthetase	L-Isoleucine(DB00167)			ENSP00000364794		29/34									COSM3413809,COSM3413810	29/34	.		ENST00000375643	Transcript			isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	ENSG00000196305	g.chr9:95004467G>C	5330			MODERATE		2.425	medium	getma.org/?cm=msa&ty=f&p=SYIC_HUMAN&rb=853&re=1052&var=S1049W	NA	getma.org/?cm=var&var=hg19,9,95004467,G,C&fts=all	S1049W	--	--	1																																		IARS_uc004ars.1_Missense_Mutation_p.S894W|IARS_uc004aru.3_Missense_Mutation_p.S1049W|IARS_uc010mqr.2_Missense_Mutation_p.S939W|IARS_uc010mqt.2_Missense_Mutation_p.S272W	1,1	1		possibly_damaging(0.592)	p.S1049W	NM_013417	NP_038203		deleterious(0)	1,1	SYIC_HUMAN	IARS	HGNC	P41252	SYIC_HUMAN			Q9P1N9_HUMAN,Q7L4K8_HUMAN,Q5TCD1_HUMAN,Q5TCC4_HUMAN,Q59G75_HUMAN,J3KR24_HUMAN		29	3403	-			UPI0000141335	1049					SNV	IARS,missense_variant,p.Ser1049Trp,ENST00000375643,NM_013417.3;IARS,missense_variant,p.Ser1049Trp,ENST00000443024,NM_002161.5;IARS,missense_variant,p.Ser102Trp,ENST00000375629,;IARS,missense_variant,p.Ser939Trp,ENST00000447699,;IARS,missense_variant,p.Ser102Trp,ENST00000375627,;IARS,non_coding_transcript_exon_variant,,ENST00000474340,;IARS,non_coding_transcript_exon_variant,,ENST00000473915,;	uc004art.1	c.3146C>G	3413/4656	4	4			c.3146C>G						9	SNP	c.(3145-3147)TCG>TGG	48	48			ovary(1)|skin(1)	2	Broad	isoleucine tRNA synthetase		L-Isoleucine(DB00167)	95004467		0.388	ENSG00000196305	7342	g.chr9:95004467G>C	isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding							-36.429685	KEEP	3	1	-1	109	82	3	1	-1	6.43127	109	82	0.018293	1	0	0	0	0	1	0	0	0	--	--		0	C			IARS_uc004ars.1_Missense_Mutation_p.S894W|IARS_uc004aru.3_Missense_Mutation_p.S1049W|IARS_uc010mqr.2_Missense_Mutation_p.S939W|IARS_uc010mqt.2_Missense_Mutation_p.S272W	21	GBM-06-0141-TP	p.S1049W	G	GACTTTATCCGATGGAGAAAC	NM_013417	NP_038203	95004467	P41252	SYIC_HUMAN	0			29	3403	-	C	C			Missense_Mutation	1049						
IARS	0	broad.mit.edu	GRCh37	9	95050515	95050515	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01	TCGA-06-6391-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375643.3:c.169G>A	p.Gly57Arg	p.G57R	ENST00000375643	NM_013417.3	57	Gga/Aga	0			1			T	G/R	uc004art.1	protein_coding	YES	CCDS6694.1			169/3789									ovary(1)|skin(1)	2	c.(169-171)GGA>AGA			HAMAP:MF_02003,hmmpanther:PTHR11946:SF11,hmmpanther:PTHR11946,PROSITE_patterns:PS00178,TIGRFAM_domain:TIGR00392,Gene3D:3.40.50.620,Pfam_domain:PF00133,Superfamily_domains:SSF52374	isoleucine tRNA synthetase	L-Isoleucine(DB00167)			ENSP00000364794		Mar-34										Mar-34	.		ENST00000375643	Transcript			isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	ENSG00000196305	g.chr9:95050515C>T	5330			MODERATE		4.95	high	getma.org/?cm=msa&ty=f&p=SYIC_HUMAN&rb=17&re=639&var=G57R	getma.org/pdb.php?prot=SYIC_HUMAN&from=17&to=639&var=G57R	getma.org/?cm=var&var=hg19,9,95050515,C,T&fts=all	G57R	--	--	1																																		IARS_uc004ars.1_5'UTR|IARS_uc004aru.3_Missense_Mutation_p.G57R|IARS_uc010mqr.2_Intron|IARS_uc010mqt.2_Missense_Mutation_p.M12I		1		probably_damaging(1)	p.G57R	NM_013417	NP_038203		deleterious(0)		SYIC_HUMAN	IARS	HGNC	P41252	SYIC_HUMAN			Q9P1N9_HUMAN,Q7L4K8_HUMAN,Q5TCD1_HUMAN,Q5TCC4_HUMAN,Q59G75_HUMAN,J3KR24_HUMAN		3	426	-			UPI0000141335	57			HIGH region.		SNV	IARS,missense_variant,p.Gly57Arg,ENST00000375643,NM_013417.3;IARS,missense_variant,p.Gly57Arg,ENST00000443024,NM_002161.5;IARS,missense_variant,p.Gly57Arg,ENST00000395554,;IARS,5_prime_UTR_variant,,ENST00000375629,;IARS,intron_variant,,ENST00000447699,;IARS,intron_variant,,ENST00000430417,;SNORA84,downstream_gene_variant,,ENST00000459229,NR_003704.2;IARS,non_coding_transcript_exon_variant,,ENST00000490438,;IARS,upstream_gene_variant,,ENST00000498025,;	uc004art.1	c.169G>A	436/4656	2	2			c.169G>A						9	SNP	c.(169-171)GGA>AGA	21	21			ovary(1)|skin(1)	2	Broad	isoleucine tRNA synthetase		L-Isoleucine(DB00167)	95050515		0.368	ENSG00000196305	7342	g.chr9:95050515C>T	isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding							20.407405	KEEP	6	7	-1	46	44	6	7	-1	32.30185	46	44	0.138298	1	0	0	0	0	1	0	0	0	--	--		0	T			IARS_uc004ars.1_5'UTR|IARS_uc004aru.3_Missense_Mutation_p.G57R|IARS_uc010mqr.2_Intron|IARS_uc010mqt.2_Missense_Mutation_p.M12I	107	GBM-06-6391-TP	p.G57R	C	AGTATATGTCCATAGTGAGGC	NM_013417	NP_038203	95050515	P41252	SYIC_HUMAN	0			3	426	-	T	T			Missense_Mutation	57			HIGH region.			
IARS	0	broad.mit.edu	GRCh37	9	95007245	95007246	+	missense_variant	Missense_Mutation	DNP	GC	GC	AA			TCGA-16-0861-01	TCGA-16-0861-01	GC	GC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375643.3:c.2899_2900delGCinsTT	p.Ala967Phe	p.A967F	ENST00000375643	NM_013417.3	967	GCt/TTt	0			1			AA	A/F	uc004art.1	protein_coding	YES	CCDS6694.1			2899-2900/3789									ovary(1)|skin(1)	2	c.(2899-2901)GCT>TTT			HAMAP:MF_02003,hmmpanther:PTHR11946:SF11,hmmpanther:PTHR11946	isoleucine tRNA synthetase	L-Isoleucine(DB00167)			ENSP00000364794		27/34										27/34	.		ENST00000375643	Transcript			isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	ENSG00000196305	g.chr9:95007245_95007246GC>AA	5330			MODERATE								--	--	1																																		IARS_uc004ars.1_Missense_Mutation_p.A812F|IARS_uc004aru.3_Missense_Mutation_p.A967F|IARS_uc010mqr.2_Missense_Mutation_p.A857F|IARS_uc010mqt.2_Missense_Mutation_p.A190F		1		possibly_damaging(0.63)	p.A967F	NM_013417	NP_038203		deleterious(0.03)		SYIC_HUMAN	IARS	HGNC	P41252	SYIC_HUMAN			Q9P1N9_HUMAN,Q7L4K8_HUMAN,Q5TCD1_HUMAN,Q5TCC4_HUMAN,Q59G75_HUMAN,J3KR24_HUMAN		27	3156_3157	-			UPI0000141335	967					substitution	IARS,missense_variant,p.Ala967Phe,ENST00000375643,NM_013417.3;IARS,missense_variant,p.Ala967Phe,ENST00000443024,NM_002161.5;IARS,missense_variant,p.Ala20Phe,ENST00000375629,;IARS,missense_variant,p.Ala857Phe,ENST00000447699,;IARS,missense_variant,p.Ala20Phe,ENST00000375627,;IARS,upstream_gene_variant,,ENST00000474340,;IARS,upstream_gene_variant,,ENST00000473915,;	uc004art.1	c.2899_2900GC>TT	3166-3167/4656	2	2			c.2899_2900GC>TT						9	DNP	c.(2899-2901)GCT>TTT	25	25			ovary(1)|skin(1)	2	Broad	isoleucine tRNA synthetase		L-Isoleucine(DB00167)	95007246		0.446	ENSG00000196305	7342	g.chr9:95007245_95007246GC>AA	isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding							165.875747	KEEP	0	0	-1	0	0	0	0	-1	166.85906	0	0	0.40625	1	0	0	0	0	1	0	0	0	--	--		0	AA			IARS_uc004ars.1_Missense_Mutation_p.A812F|IARS_uc004aru.3_Missense_Mutation_p.A967F|IARS_uc010mqr.2_Missense_Mutation_p.A857F|IARS_uc010mqt.2_Missense_Mutation_p.A190F	156	GBM-16-0861-TP	p.A967F	GC	AAATACCTGAGCATCTGAGTGT	NM_013417	NP_038203	95007245	P41252	SYIC_HUMAN	0			27	3156_3157	-	AA	AA			Missense_Mutation	967						
IBA57	200205	broad.mit.edu	GRCh37	1	228362896	228362896	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5412-01	TCGA-06-5412-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366711.3:c.753C>T	p.Asn251=	p.N251=	ENST00000366711	NM_001010867.2	251	aaC/aaT	0			1			T	N	uc001hsl.3	protein_coding	YES	CCDS31046.1			753/1071										0	c.(751-753)AAC>AAT			hmmpanther:PTHR22602:SF0,hmmpanther:PTHR22602,TIGRFAM_domain:TIGR03317,Superfamily_domains:SSF103025	hypothetical protein LOC200205 precursor				ENSP00000355672		3-Mar	2.47E-05	9.77E-05				3.06E-05			rs375524486,COSM3400379	3-Mar	.		ENST00000366711	Transcript	1		glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity	ENSG00000181873	g.chr1:228362896C>T	27302			LOW								--	--	1																																		C1orf69_uc010pvw.1_Silent_p.N58N	0,1	1			p.N251N	NM_001010867	NP_001010867			0,1	CAF17_HUMAN	IBA57	HGNC	Q5T440	CAF17_HUMAN			G5EA38_HUMAN		3	842	+		Prostate(94;0.0405)	UPI0000160A21	251					SNV	IBA57,synonymous_variant,p.=,ENST00000366711,NM_001010867.2;IBA57,synonymous_variant,p.=,ENST00000546123,;IBA57,non_coding_transcript_exon_variant,,ENST00000484749,;	uc001hsl.3	c.753C>T	755/7817	2	2			c.753C>T						1	SNP	c.(751-753)AAC>AAT	17	17				0	Broad	hypothetical protein LOC200205 precursor			228362896		0.647	ENSG00000181873	2014	g.chr1:228362896C>T	glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity							-17.094929	KEEP	5	7	-1	73	113	5	7	-1	18.960673	73	113	0.057143	1	0	0	0	0	0	0	1	0	--	--		0	T			C1orf69_uc010pvw.1_Silent_p.N58N	95	GBM-06-5412-TP	p.N251N	C	CCTTCATGAACGGCGTGAGCT	NM_001010867	NP_001010867	228362896	Q5T440	CAF17_HUMAN	0			3	842	+	T	T		Prostate(94;0.0405)	Silent	251						
IBA57	0	broad.mit.edu	GRCh37	1	228362831	228362831	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-5133-01	TCGA-26-5133-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366711.3:c.688G>A	p.Glu230Lys	p.E230K	ENST00000366711	NM_001010867.2	230	Gag/Aag	0			1			A	E/K	uc001hsl.3	protein_coding	YES	CCDS31046.1			688/1071										0	c.(688-690)GAG>AAG			hmmpanther:PTHR22602:SF0,hmmpanther:PTHR22602,TIGRFAM_domain:TIGR03317,Pfam_domain:PF01571,Superfamily_domains:SSF103025	hypothetical protein LOC200205 precursor				ENSP00000355672		3-Mar									COSM2156952	3-Mar	.		ENST00000366711	Transcript	1		glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity	ENSG00000181873	g.chr1:228362831G>A	27302			MODERATE		3.045	medium	getma.org/?cm=msa&ty=f&p=CAF17_HUMAN&rb=50&re=250&var=E230K	NA	getma.org/?cm=var&var=hg19,1,228362831,G,A&fts=all	E230K	--	--	1																																		C1orf69_uc010pvw.1_Missense_Mutation_p.E37K	1	1		probably_damaging(0.999)	p.E230K	NM_001010867	NP_001010867		deleterious(0)	1	CAF17_HUMAN	IBA57	HGNC	Q5T440	CAF17_HUMAN			G5EA38_HUMAN		3	777	+		Prostate(94;0.0405)	UPI0000160A21	230					SNV	IBA57,missense_variant,p.Glu230Lys,ENST00000366711,NM_001010867.2;IBA57,missense_variant,p.Glu37Lys,ENST00000546123,;IBA57,non_coding_transcript_exon_variant,,ENST00000484749,;	uc001hsl.3	c.688G>A	690/7817	1	1			c.688G>A						1	SNP	c.(688-690)GAG>AAG	62	62				0	Broad	hypothetical protein LOC200205 precursor			228362831		0.627	ENSG00000181873	2014	g.chr1:228362831G>A	glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity							175.423026	KEEP	30	34	-1	4	6	30	34	-1	184.208257	4	6	0.875	1	0	0	0	0	1	0	0	0	--	--		0	A			C1orf69_uc010pvw.1_Missense_Mutation_p.E37K	182	GBM-26-5133-TP	p.E230K	G	AGGCGTTCCTGAGGGGGTCCG	NM_001010867	NP_001010867	228362831	Q5T440	CAF17_HUMAN	0			3	777	+	A	A		Prostate(94;0.0405)	Missense_Mutation	230						
IBA57	0	broad.mit.edu	GRCh37	1	228362953	228362953	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-2638-01	TCGA-32-2638-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366711.3:c.810C>A	p.His270Gln	p.H270Q	ENST00000366711	NM_001010867.2	270	caC/caA	0			1			A	H/Q	uc001hsl.3	protein_coding	YES	CCDS31046.1			810/1071										0	c.(808-810)CAC>CAA			hmmpanther:PTHR22602:SF0,hmmpanther:PTHR22602,TIGRFAM_domain:TIGR03317,Pfam_domain:PF08669,Superfamily_domains:SSF103025	hypothetical protein LOC200205 precursor				ENSP00000355672		3-Mar									COSM3400380	3-Mar	.		ENST00000366711	Transcript	1		glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity	ENSG00000181873	g.chr1:228362953C>A	27302			MODERATE		1.58	low	getma.org/?cm=msa&ty=f&p=CAF17_HUMAN&rb=258&re=350&var=H270Q	NA	getma.org/?cm=var&var=hg19,1,228362953,C,A&fts=all	H270Q	--	--	1																																		C1orf69_uc010pvw.1_Missense_Mutation_p.H77Q	1	1		possibly_damaging(0.616)	p.H270Q	NM_001010867	NP_001010867		tolerated(0.06)	1	CAF17_HUMAN	IBA57	HGNC	Q5T440	CAF17_HUMAN			G5EA38_HUMAN		3	899	+		Prostate(94;0.0405)	UPI0000160A21	270					SNV	IBA57,missense_variant,p.His270Gln,ENST00000366711,NM_001010867.2;IBA57,missense_variant,p.His77Gln,ENST00000546123,;IBA57,non_coding_transcript_exon_variant,,ENST00000484749,;	uc001hsl.3	c.810C>A	812/7817	2	2			c.810C>A						1	SNP	c.(808-810)CAC>CAA	43	43				0	Broad	hypothetical protein LOC200205 precursor			228362953		0.652	ENSG00000181873	2014	g.chr1:228362953C>A	glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity							-9.932107	KEEP	2	1	0.333333333	55	38	2	1	0.333333333	6.881791	55	38	0.040541	1	0	0	0	0	1	0	0	0	--	--		0	A			C1orf69_uc010pvw.1_Missense_Mutation_p.H77Q	242	GBM-32-2638-TP	p.H270Q	C	CCCGCACCCACCACATGGGCG	NM_001010867	NP_001010867	228362953	Q5T440	CAF17_HUMAN	0			3	899	+	A	A		Prostate(94;0.0405)	Missense_Mutation	270						
IBTK	0	broad.mit.edu	GRCh37	6	82924066	82924066	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-27-1830-01	TCGA-27-1830-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306270.7:c.2082T>G	p.Val694=	p.V694=	ENST00000306270	NM_015525.2	694	gtT/gtG	0			1			C	V	uc003pjl.1	protein_coding	YES	CCDS34490.1			2082/4062									ovary(2)|central_nervous_system(2)	4	c.(2080-2082)GTT>GTG			hmmpanther:PTHR22872,hmmpanther:PTHR22872:SF2,SMART_domains:SM00225	inhibitor of Bruton's tyrosine kinase				ENSP00000305721		29-Dec									COSM3411307	29-Dec	.		ENST00000306270	Transcript			negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	ENSG00000005700	g.chr6:82924066A>C	17853			LOW								--	--	1																																		IBTK_uc011dyv.1_Silent_p.V694V|IBTK_uc011dyw.1_Intron|IBTK_uc010kbi.1_Silent_p.V388V|IBTK_uc003pjm.2_Silent_p.V694V	1	1			p.V694V	NM_015525	NP_056340			1	IBTK_HUMAN	IBTK	HGNC	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)			12	2609	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	UPI000041929F	694					SNV	IBTK,synonymous_variant,p.=,ENST00000306270,NM_015525.2;IBTK,synonymous_variant,p.=,ENST00000510291,;IBTK,intron_variant,,ENST00000503631,;RNU6-130P,upstream_gene_variant,,ENST00000411112,;IBTK,3_prime_UTR_variant,,ENST00000503400,;IBTK,non_coding_transcript_exon_variant,,ENST00000369751,;IBTK,intron_variant,,ENST00000505222,;	uc003pjl.1	c.2082T>G	2632/6054	3	3			c.2082T>G						6	SNP	c.(2080-2082)GTT>GTG	49	49			ovary(2)|central_nervous_system(2)	4	Broad	inhibitor of Bruton's tyrosine kinase			82924066		0.338	ENSG00000005700	7345	g.chr6:82924066A>C	negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity							213.30443	KEEP	40	30	-1	95	68	40	30	-1	220.511208	95	68	0.305164	1	0	0	0	0	0	0	1	0	--	--		0	C			IBTK_uc011dyv.1_Silent_p.V694V|IBTK_uc011dyw.1_Intron|IBTK_uc010kbi.1_Silent_p.V388V|IBTK_uc003pjm.2_Silent_p.V694V	189	GBM-27-1830-TP	p.V694V	A	GCCTCTCACTAACTGTTTGAG	NM_015525	NP_056340	82924066	Q9P2D0	IBTK_HUMAN	0		BRCA - Breast invasive adenocarcinoma(397;0.0901)	12	2609	-	C	C		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	Silent	694						
IBTK	0	broad.mit.edu	GRCh37	6	82924063	82924066	+	frameshift_variant	Frame_Shift_Del	DEL	ACTA	ACTA	-			TCGA-76-4926-01	TCGA-76-4926-01	ACTA	ACTA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306270.7:c.2082_2085delTAGT	p.Ser695ArgfsTer22	p.S695Rfs*22	ENST00000306270	NM_015525.2	694	gtTAGT/gt	0			1			-	VS/X	uc003pjl.1	protein_coding	YES	CCDS34490.1			2082-2085/4062									ovary(2)|central_nervous_system(2)	4	c.(2080-2085)GTTAGTfs			hmmpanther:PTHR22872,hmmpanther:PTHR22872:SF2,SMART_domains:SM00225	inhibitor of Bruton's tyrosine kinase				ENSP00000305721		29-Dec										29-Dec	.		ENST00000306270	Transcript			negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	ENSG00000005700	g.chr6:82924063_82924066delACTA	17853			HIGH								--	--	1																																		IBTK_uc011dyv.1_Frame_Shift_Del_p.V694fs|IBTK_uc011dyw.1_Intron|IBTK_uc010kbi.1_Frame_Shift_Del_p.V388fs|IBTK_uc003pjm.2_Frame_Shift_Del_p.V694fs		1			p.V694fs	NM_015525	NP_056340				IBTK_HUMAN	IBTK	HGNC	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)			12	2609_2612	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	UPI000041929F	694_695					deletion	IBTK,frameshift_variant,p.Ser695ArgfsTer22,ENST00000306270,NM_015525.2;IBTK,frameshift_variant,p.Ser695ArgfsTer22,ENST00000510291,;IBTK,intron_variant,,ENST00000503631,;RNU6-130P,upstream_gene_variant,,ENST00000411112,;IBTK,3_prime_UTR_variant,,ENST00000503400,;IBTK,non_coding_transcript_exon_variant,,ENST00000369751,;IBTK,intron_variant,,ENST00000505222,;	uc003pjl.1	c.2082_2085delTAGT	2632-2635/6054	5	5			c.2082_2085delTAGT						6	DEL	c.(2080-2085)GTTAGTfs	1	1			ovary(2)|central_nervous_system(2)	4	Broad	inhibitor of Bruton's tyrosine kinase			82924066		0.338	ENSG00000005700	7345	g.chr6:82924063_82924066delACTA	negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity																				0.31	1	1	0	1	0	0	0	0	0	--	--		0	-			IBTK_uc011dyv.1_Frame_Shift_Del_p.V694fs|IBTK_uc011dyw.1_Intron|IBTK_uc010kbi.1_Frame_Shift_Del_p.V388fs|IBTK_uc003pjm.2_Frame_Shift_Del_p.V694fs	266	GBM-76-4926-TP	p.V694fs	ACTA	TCTGCCTCTCACTAACTGTTTGAG	NM_015525	NP_056340	82924063	Q9P2D0	IBTK_HUMAN	0		BRCA - Breast invasive adenocarcinoma(397;0.0901)	12	2609_2612	-	-	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	Frame_Shift_Del	694_695						
ICA1L	0	broad.mit.edu	GRCh37	2	203650727	203650727	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-74-6573-01	TCGA-74-6573-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358299.2:c.1247G>C	p.Trp416Ser	p.W416S	ENST00000358299		416	tGg/tCg	0			1			G	W/S	uc002uzh.1	protein_coding		CCDS2354.1			1247/1449										0	c.(1246-1248)TGG>TCG			Pfam_domain:PF04629,hmmpanther:PTHR10164:SF2,hmmpanther:PTHR10164	islet cell autoantigen 1,69kDa-like isoform 1				ENSP00000351047		13-Dec									COSM3407493	13-Dec	.		ENST00000358299	Transcript						ENSG00000163596	g.chr2:203650727C>G	14442			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=ICA1L_HUMAN&rb=254&re=482&var=W416S	NA	getma.org/?cm=var&var=hg19,2,203650727,C,G&fts=all	W416S	--	--	1																																		ICA1L_uc002uzi.1_Missense_Mutation_p.W416S	1			benign(0.016)	p.W416S	NM_138468	NP_612477		tolerated(0.05)	1	ICA1L_HUMAN	ICA1L	HGNC	Q8NDH6	ICA1L_HUMAN			C9JRB6_HUMAN,C9JP49_HUMAN,C9JEP0_HUMAN,C9JEN4_HUMAN,C9JDM8_HUMAN,C9JDK6_HUMAN,C9JAQ4_HUMAN,C9J9Z8_HUMAN,C9J5Z0_HUMAN,C9J1M7_HUMAN		13	1411	-			UPI000007263F	416					SNV	ICA1L,missense_variant,p.Trp416Ser,ENST00000392237,NM_138468.4,NM_001288623.1,NM_001288622.1;ICA1L,missense_variant,p.Trp416Ser,ENST00000358299,;ICA1L,downstream_gene_variant,,ENST00000420558,;ICA1L,3_prime_UTR_variant,,ENST00000438804,;	uc002uzh.1	c.1247G>C	1621/3457	3	3			c.1247G>C						2	SNP	c.(1246-1248)TGG>TCG	62	62				0	Broad	islet cell autoantigen 1,69kDa-like isoform 1			203650727		0.358	ENSG00000163596	7347	g.chr2:203650727C>G										138.297284	KEEP	24	28	-1	54	48	24	28	-1	141.463194	54	48	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	G			ICA1L_uc002uzi.1_Missense_Mutation_p.W416S	260	GBM-74-6573-TP	p.W416S	C	TTGGGAGACCCAGTCTGGGAT	NM_138468	NP_612477	203650727	Q8NDH6	ICA1L_HUMAN	0			13	1411	-	G	G			Missense_Mutation	416						
ICAM1	3383		GRCh37	19	10395175	10395175	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000264832.3:c.1022C>T	p.Thr341Met	p.T341M	ENST00000264832	NM_000201.2	341	aCg/aTg	0																																																																																																																																																																																																																																												
ICAM2	3384		GRCh37	17	62080238	62080238	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000412356.1:c.697G>T	p.Val233Leu	p.V233L	ENST00000412356	NM_001099786.1	233	Gtg/Ttg	0																																																																																																																																																																																																																																												
ICAM5	0	broad.mit.edu	GRCh37	19	10405102	10405102	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-76-4929-01	TCGA-76-4929-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221980.4:c.2016C>A	p.Thr672=	p.T672=	ENST00000221980	NM_003259.3	672	acC/acA	0			1			A	T	uc002mnu.3	protein_coding	YES	CCDS12233.1			2016/2775									breast(3)	3	c.(2014-2016)ACC>ACA			Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR13771,hmmpanther:PTHR13771:SF6	intercellular adhesion molecule 5 precursor				ENSP00000221980		11-Sep									COSM3403710	11-Sep	.		ENST00000221980	Transcript			cell-cell adhesion	integral to plasma membrane		ENSG00000105376	g.chr19:10405102C>A	5348			LOW								--	--	1																																		ICAM5_uc002mnv.3_Silent_p.T547T	1	1			p.T672T	NM_003259	NP_003250			1	ICAM5_HUMAN	ICAM5	HGNC	Q9UMF0	ICAM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		K7EIL3_HUMAN		9	2081	+			UPI000013C7E4	672			Extracellular (Potential).|Ig-like C2-type 8.		SNV	ICAM5,synonymous_variant,p.=,ENST00000221980,NM_003259.3;ICAM5,downstream_gene_variant,,ENST00000587398,;ICAM5,downstream_gene_variant,,ENST00000586004,;ICAM5,non_coding_transcript_exon_variant,,ENST00000586480,;ICAM5,downstream_gene_variant,,ENST00000588912,;	uc002mnu.3	c.2016C>A	2079/3000	2	2			c.2016C>A						19	SNP	c.(2014-2016)ACC>ACA	20	20			breast(3)	3	Broad	intercellular adhesion molecule 5 precursor			10405102		0.692	ENSG00000105376	7352	g.chr19:10405102C>A	cell-cell adhesion	integral to plasma membrane								133.901607	KEEP	14	29	0.674418605	5	5	14	29	0.674418605	138.714651	5	5	0.82	1	0	0	0	0	0	0	1	0	--	--		0	A			ICAM5_uc002mnv.3_Silent_p.T547T	269	GBM-76-4929-TP	p.T672T	C	ATGAATCTACCTGCCCAAGTC	NM_003259	NP_003250	10405102	Q9UMF0	ICAM5_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		9	2081	+	A	A			Silent	672			Extracellular (Potential).|Ig-like C2-type 8.			
ICK	0	broad.mit.edu	GRCh37	6	52883129	52883129	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-27-2523-01	TCGA-27-2523-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000350082.5:c.662delA	p.Lys221ArgfsTer14	p.K221Rfs*14	ENST00000350082	NM_014920.3	221	aAg/ag	0			1			-	K/X	uc003pbh.2	protein_coding		CCDS4949.1			662/1899									ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1)	5	c.(661-663)AAGfs			Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF150,SMART_domains:SM00220,Superfamily_domains:SSF56112	intestinal cell kinase				ENSP00000263043		14-Jul										14-Jul	.		ENST00000350082	Transcript	1		intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	ENSG00000112144	g.chr6:52883129delT	21219			HIGH								--	--	1																																		ICK_uc003pbi.2_Frame_Shift_Del_p.K221fs|ICK_uc003pbj.2_Frame_Shift_Del_p.K221fs					p.K221fs	NM_016513	NP_057597				ICK_HUMAN	ICK	HGNC	Q9UPZ9	ICK_HUMAN					8	1152	-	Lung NSC(77;0.103)		UPI0000073DE8	221			Protein kinase.		deletion	ICK,frameshift_variant,p.Lys221ArgfsTer14,ENST00000356971,NM_016513.4;ICK,frameshift_variant,p.Lys221ArgfsTer14,ENST00000350082,NM_014920.3;	uc003pbh.2	c.662delA	1009/6116	5	5			c.662delA						6	DEL	c.(661-663)AAGfs	63	63			ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1)	5	Broad	intestinal cell kinase			52883129		0.502	ENSG00000112144	7353	g.chr6:52883129delT	intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			283			283														0.01	1	1	0	1	0	0	0	0	0	--	--		0	-			ICK_uc003pbi.2_Frame_Shift_Del_p.K221fs|ICK_uc003pbj.2_Frame_Shift_Del_p.K221fs	201	GBM-27-2523-TP	p.K221fs	T	TATCATTACCTTTTTTGGTGT	NM_016513	NP_057597	52883129	Q9UPZ9	ICK_HUMAN	0			8	1152	-	-	-	Lung NSC(77;0.103)		Frame_Shift_Del	221			Protein kinase.			
ICOSLG	23308	broad.mit.edu	GRCh37	21	45655287	45655287	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01	TCGA-06-0645-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000407780.3:c.565G>A	p.Val189Ile	p.V189I	ENST00000407780	NM_001283052.1	189	Gtc/Atc	0		T:0	1	T:0		T	V/I	uc002zee.2	protein_coding	YES	CCDS42952.1			565/909										0	c.(565-567)GTC>ATC			PROSITE_profiles:PS50835,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF55,Gene3D:2.60.40.10,Pfam_domain:PF08205,Superfamily_domains:SSF48726	inducible T-cell co-stimulator ligand precursor		T:0		ENSP00000384432	T:0	7-Apr	6.60E-05					1.71E-05		0.000457	rs537324360,COSM2820528,COSM3405437	7-Apr	common_variant		ENST00000407780	Transcript		T:0.0002	B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding	ENSG00000160223	g.chr21:45655287C>T	17087			MODERATE		0.95	low	getma.org/?cm=msa&ty=f&p=ICOSL_HUMAN&rb=139&re=225&var=V189I	getma.org/pdb.php?prot=ICOSL_HUMAN&from=139&to=225&var=V189I	getma.org/?cm=var&var=hg19,21,45655287,C,T&fts=all	V189I	--	--	1																																		ICOSLG_uc011afc.1_Missense_Mutation_p.V99I|ICOSLG_uc002zef.2_Missense_Mutation_p.V72I|ICOSLG_uc010gpp.1_Missense_Mutation_p.V189I	0,1,1	1		benign(0.384)	p.V189I	NM_015259	NP_056074	T:0.001	tolerated(0.14)	0,1,1	ICOSL_HUMAN	ICOSLG	HGNC	O75144	ICOSL_HUMAN		Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)	B7Z1W8_HUMAN,A0N0L8_HUMAN		4	699	-			UPI0000049DCB	189			Extracellular (Potential).|Ig-like C2-type.		SNV	ICOSLG,missense_variant,p.Val189Ile,ENST00000407780,NM_001283052.1;ICOSLG,missense_variant,p.Val189Ile,ENST00000400379,NM_015259.4;ICOSLG,missense_variant,p.Val72Ile,ENST00000400377,NM_001283051.1;ICOSLG,missense_variant,p.Val189Ile,ENST00000344330,NM_001283050.1;	uc002zee.2	c.565G>A	693/7080	2	2			c.565G>A						21	SNP	c.(565-567)GTC>ATC	25	25				0	Broad	inducible T-cell co-stimulator ligand precursor			45655287		0.552	ENSG00000160223	7356	g.chr21:45655287C>T	B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding							10.925707	KEEP	3	3	-1	13	20	3	3	-1	14.942034	13	20	0.162162	1	0	0	0	0	1	0	0	0	--	--		0	T			ICOSLG_uc011afc.1_Missense_Mutation_p.V99I|ICOSLG_uc002zef.2_Missense_Mutation_p.V72I|ICOSLG_uc010gpp.1_Missense_Mutation_p.V189I	59	GBM-06-0645-TP	p.V189I	C	TTCAAGAAGACGGTGTCATTC	NM_015259	NP_056074	45655287	O75144	ICOSL_HUMAN	0		Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)	4	699	-	T	T			Missense_Mutation	189			Extracellular (Potential).|Ig-like C2-type.			
ICOSLG	23308	broad.mit.edu	GRCh37	21	45657075	45657075	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000407780.3:c.81G>A	p.Ala27=	p.A27=	ENST00000407780	NM_001283052.1	27	gcG/gcA	0		T:0	1	T:0		T	A	uc002zee.2	protein_coding	YES	CCDS42952.1			81/909										0	c.(79-81)GCG>GCA			PROSITE_profiles:PS50835,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF55,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	inducible T-cell co-stimulator ligand precursor		T:0.0099		ENSP00000384432	T:0	7-Mar	0.000421			0.00582				7.27E-05	rs188124639,COSM2820545,COSM3405440	7-Mar	common_variant		ENST00000407780	Transcript		T:0.0020	B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding	ENSG00000160223	g.chr21:45657075C>T	17087			LOW								--	--	1																																		ICOSLG_uc011afc.1_Intron|ICOSLG_uc002zef.2_Intron|ICOSLG_uc010gpp.1_Silent_p.A27A	0,1,1	1			p.A27A	NM_015259	NP_056074	T:0		0,1,1	ICOSL_HUMAN	ICOSLG	HGNC	O75144	ICOSL_HUMAN		Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)	B7Z1W8_HUMAN,A0N0L8_HUMAN		3	215	-			UPI0000049DCB	27			Ig-like V-type.|Extracellular (Potential).		SNV	ICOSLG,synonymous_variant,p.=,ENST00000407780,NM_001283052.1;ICOSLG,synonymous_variant,p.=,ENST00000400379,NM_015259.4;ICOSLG,synonymous_variant,p.=,ENST00000344330,NM_001283050.1;ICOSLG,intron_variant,,ENST00000400377,NM_001283051.1;	uc002zee.2	c.81G>A	209/7080	1	1			c.81G>A						21	SNP	c.(79-81)GCG>GCA	3	3				0	Broad	inducible T-cell co-stimulator ligand precursor			45657075		0.498	ENSG00000160223	7356	g.chr21:45657075C>T	B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding							16.635578	KEEP	6	6	-1	47	55	6	6	-1	30.064319	47	55	0.123711	1	0	0	0	0	0	0	1	0	--	--		0	T			ICOSLG_uc011afc.1_Intron|ICOSLG_uc002zef.2_Intron|ICOSLG_uc010gpp.1_Silent_p.A27A	102	GBM-06-5858-TP	p.A27A	C	TGCCTACCATCGCTCTGACTT	NM_015259	NP_056074	45657075	O75144	ICOSL_HUMAN	0		Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)	3	215	-	T	T			Silent	27			Ig-like V-type.|Extracellular (Potential).			
ICOSLG	0	broad.mit.edu	GRCh37	21	45657002	45657002	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000407780.3:c.154G>A	p.Val52Ile	p.V52I	ENST00000407780	NM_001283052.1	52	Gta/Ata	0			1			T	V/I	uc002zee.2	protein_coding	YES	CCDS42952.1			154/909										0	c.(154-156)GTA>ATA			PROSITE_profiles:PS50835,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF55,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	inducible T-cell co-stimulator ligand precursor				ENSP00000384432		7-Mar									COSM3405438,COSM3405439	7-Mar	.		ENST00000407780	Transcript			B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding	ENSG00000160223	g.chr21:45657002C>T	17087			MODERATE		1.545	low	getma.org/?cm=msa&ty=f&p=ICOSL_HUMAN&rb=16&re=132&var=V52I	getma.org/pdb.php?prot=ICOSL_HUMAN&from=16&to=132&var=V52I	getma.org/?cm=var&var=hg19,21,45657002,C,T&fts=all	V52I	--	--	1																																		ICOSLG_uc011afc.1_Intron|ICOSLG_uc002zef.2_Intron|ICOSLG_uc010gpp.1_Missense_Mutation_p.V52I	1,1	1		possibly_damaging(0.821)	p.V52I	NM_015259	NP_056074		tolerated(0.07)	1,1	ICOSL_HUMAN	ICOSLG	HGNC	O75144	ICOSL_HUMAN		Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)	B7Z1W8_HUMAN,A0N0L8_HUMAN		3	288	-			UPI0000049DCB	52			Ig-like V-type.|Extracellular (Potential).		SNV	ICOSLG,missense_variant,p.Val52Ile,ENST00000407780,NM_001283052.1;ICOSLG,missense_variant,p.Val52Ile,ENST00000400379,NM_015259.4;ICOSLG,missense_variant,p.Val52Ile,ENST00000344330,NM_001283050.1;ICOSLG,intron_variant,,ENST00000400377,NM_001283051.1;	uc002zee.2	c.154G>A	282/7080	1	1			c.154G>A						21	SNP	c.(154-156)GTA>ATA	4	4				0	Broad	inducible T-cell co-stimulator ligand precursor			45657002		0.522	ENSG00000160223	7356	g.chr21:45657002C>T	B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding							12.039717	KEEP	6	9	-1	59	81	6	9	-1	34.72434	59	81	0.103448	1	0	0	0	0	1	0	0	0	--	--		0	T			ICOSLG_uc011afc.1_Intron|ICOSLG_uc002zef.2_Intron|ICOSLG_uc010gpp.1_Missense_Mutation_p.V52I	246	GBM-32-4211-TP	p.V52I	C	TGCCAATATACGTAAACATCA	NM_015259	NP_056074	45657002	O75144	ICOSL_HUMAN	0		Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)	3	288	-	T	T			Missense_Mutation	52			Ig-like V-type.|Extracellular (Potential).			
ID1	0	broad.mit.edu	GRCh37	20	30193855	30193855	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A			TCGA-41-3915-01	TCGA-41-3915-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376112.3:c.427-1G>A		p.X143_splice	ENST00000376112	NM_002165.3			0			1			A		uc002wwg.1	protein_coding	YES	CCDS13185.1			427/468									ovary(1)	1	c.e2-1				inhibitor of DNA binding 1 isoform a				ENSP00000365280											COSM3405002		.		ENST00000376112	Transcript			angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway	cytoplasm	protein binding	ENSG00000125968	g.chr20:30193855G>A	5360			HIGH	1-Jan							--	--	1																																		ID1_uc002wwh.1_3'UTR|hsa-mir-3193|MI0014238_5'Flank	1	1			p.A143_splice	NM_002165	NP_002156			1	ID1_HUMAN	ID1	HGNC	P41134	ID1_HUMAN	Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)				2	526	+	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		UPI000012D18F						SNV	ID1,splice_acceptor_variant,,ENST00000376112,NM_002165.3;ID1,3_prime_UTR_variant,,ENST00000376105,NM_181353.2;MIR3193,upstream_gene_variant,,ENST00000578262,;	uc002wwg.1	c.427_splice	-/994	5	1			c.427_splice						20	SNP	c.e2-1	62	62			ovary(1)	1	Broad	inhibitor of DNA binding 1 isoform a			30193855		0.652	ENSG00000125968	7358	g.chr20:30193855G>A	angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway	cytoplasm	protein binding	NSCLC(123;1618 1779 21803 28680 33854)		46	NSCLC(123;1618 1779 21803 28680 33854)		46	-3.118327	KEEP	2	1	-1	35	35	2	1	-1	7.277907	35	35	0.058824	1	0	0	0	0	0	0	0	1	--	--		0	A			ID1_uc002wwh.1_3'UTR|hsa-mir-3193|MI0014238_5'Flank	256	GBM-41-3915-TP	p.A143_splice	G	CGTTTTCACAGGCGGCATGCG	NM_002165	NP_002156	30193855	P41134	ID1_HUMAN	0	Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)		2	526	+	A	A	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Splice_Site							
IDE	3416	broad.mit.edu	GRCh37	10	94267958	94267958	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-2563-01	TCGA-06-2563-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265986.6:c.1065G>C	p.Trp355Cys	p.W355C	ENST00000265986	NM_004969.3	355	tgG/tgC	0			1			G	W/C	uc001kia.2	protein_coding	YES	CCDS7421.1			1065/3060									ovary(2)|central_nervous_system(1)	3	c.(1063-1065)TGG>TGC			Superfamily_domains:SSF63411,Gene3D:3.30.830.10,Pfam_domain:PF05193,hmmpanther:PTHR11851:SF85,hmmpanther:PTHR11851	insulin-degrading enzyme isoform 1 precursor	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)			ENSP00000265986		25-Aug									COSM2152918	25-Aug	.		ENST00000265986	Transcript			beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	ENSG00000119912	g.chr10:94267958C>G	5381			MODERATE		3.76	high	getma.org/?cm=msa&ty=f&p=IDE_HUMAN&rb=237&re=418&var=W355C	getma.org/pdb.php?prot=IDE_HUMAN&from=237&to=418&var=W355C	getma.org/?cm=var&var=hg19,10,94267958,C,G&fts=all	W355C	--	--	1																																			1	1		probably_damaging(1)	p.W355C	NM_004969	NP_004960		deleterious(0)	1	IDE_HUMAN	IDE	HGNC	P14735	IDE_HUMAN					8	1141	-			UPI000013D6B6	355					SNV	IDE,missense_variant,p.Trp355Cys,ENST00000265986,NM_004969.3;IDE,downstream_gene_variant,,ENST00000436178,;IDE,3_prime_UTR_variant,,ENST00000478361,;	uc001kia.2	c.1065G>C	1122/5877	3	3			c.1065G>C						10	SNP	c.(1063-1065)TGG>TGC	14	14			ovary(2)|central_nervous_system(1)	3	Broad	insulin-degrading enzyme isoform 1 precursor		Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	94267958		0.358	ENSG00000119912	7362	g.chr10:94267958C>G	beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding							338.941493	KEEP	52	74	-1	84	90	52	74	-1	340.38787	84	90	0.419608	1	0	0	0	0	1	0	0	0	--	--		0	G				86	GBM-06-2563-TP	p.W355C	C	GAGTATTAACCCAGCCTGCAA	NM_004969	NP_004960	94267958	P14735	IDE_HUMAN	0			8	1141	-	G	G			Missense_Mutation	355						
IDH1	3417	broad.mit.edu	GRCh37	2	209113112	209113112	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-02-2483-01	TCGA-02-2483-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345146.2:c.395G>A	p.Arg132His	p.R132H	ENST00000345146	NM_005896.2	132	cGt/cAt	0			1			T	R/H	uc002vcs.2	protein_coding		CCDS2381.1			395/1245	Mis				gliobastoma	pathogenic		p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868	c.(394-396)CGT>CAT			hmmpanther:PTHR11822,Gene3D:3.40.718.10,Pfam_domain:PF00180,TIGRFAM_domain:TIGR00127,PIRSF_domain:PIRSF000108,Superfamily_domains:SSF53659	isocitrate dehydrogenase 1 (NADP+), soluble				ENSP00000260985		10-Apr									rs121913500,COSM28746	10-Apr	.		ENST00000345146	Transcript	1		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	ENSG00000138413	g.chr2:209113112C>T	5382			MODERATE								--	--	1																																		IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	1,1			possibly_damaging(0.813)	p.R132H	NM_005896	NP_005887		deleterious_low_confidence(0.01)	0,1	IDHC_HUMAN	IDH1	HGNC	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	Q6FHQ6_HUMAN,Q0QER2_HUMAN,C9JLU6_HUMAN,C9JJE5_HUMAN,C9J4N6_HUMAN,B4DXS4_HUMAN		4	641	-			UPI000012D1B4	132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		Substrate.	SNV	IDH1,missense_variant,p.Arg132His,ENST00000415913,NM_001282387.1;IDH1,missense_variant,p.Arg132His,ENST00000345146,NM_005896.2;IDH1,missense_variant,p.Arg132His,ENST00000446179,NM_001282386.1;IDH1,missense_variant,p.Arg132His,ENST00000415282,;IDH1,downstream_gene_variant,,ENST00000417583,;IDH1,downstream_gene_variant,,ENST00000451391,;IDH1,non_coding_transcript_exon_variant,,ENST00000462386,;IDH1,downstream_gene_variant,,ENST00000481557,;	uc002vcs.2	c.395G>A	680/2382	2	2			c.395G>A	Mis				gliobastoma	2	SNP	c.(394-396)CGT>CAT	47	47		p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868	Broad	isocitrate dehydrogenase 1 (NADP+), soluble			209113112		0.393	ENSG00000138413	7363	g.chr2:209113112C>T	2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	Pancreas(158;264 1958 3300 35450 36047)		134	Pancreas(158;264 1958 3300 35450 36047)		134	108.10537	KEEP	13	27	-1	41	33	13	27	-1	109.726462	41	33	0.367925	1	0	0	0	0	1	0	0	0	--	--		0	T			IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	6	GBM-02-2483-TP	p.R132H	C	ATAAGCATGACGACCTATGAT	NM_005896	NP_005887	209113112	O75874	IDHC_HUMAN	0		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	641	-	T	T			Missense_Mutation	132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		Substrate.		
IDH1	3417	broad.mit.edu	GRCh37	2	209113112	209113112	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-06-0128-01	TCGA-06-0128-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345146.2:c.395G>A	p.Arg132His	p.R132H	ENST00000345146	NM_005896.2	132	cGt/cAt	0			1			T	R/H	uc002vcs.2	protein_coding		CCDS2381.1			395/1245	Mis				gliobastoma	pathogenic		p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868	c.(394-396)CGT>CAT			hmmpanther:PTHR11822,Gene3D:3.40.718.10,Pfam_domain:PF00180,TIGRFAM_domain:TIGR00127,PIRSF_domain:PIRSF000108,Superfamily_domains:SSF53659	isocitrate dehydrogenase 1 (NADP+), soluble				ENSP00000260985		10-Apr									rs121913500,COSM28746	10-Apr	.		ENST00000345146	Transcript	1		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	ENSG00000138413	g.chr2:209113112C>T	5382			MODERATE								--	--	1																																		IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	1,1			possibly_damaging(0.813)	p.R132H	NM_005896	NP_005887		deleterious_low_confidence(0.01)	0,1	IDHC_HUMAN	IDH1	HGNC	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	Q6FHQ6_HUMAN,Q0QER2_HUMAN,C9JLU6_HUMAN,C9JJE5_HUMAN,C9J4N6_HUMAN,B4DXS4_HUMAN		4	641	-			UPI000012D1B4	132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		Substrate.	SNV	IDH1,missense_variant,p.Arg132His,ENST00000415913,NM_001282387.1;IDH1,missense_variant,p.Arg132His,ENST00000345146,NM_005896.2;IDH1,missense_variant,p.Arg132His,ENST00000446179,NM_001282386.1;IDH1,missense_variant,p.Arg132His,ENST00000415282,;IDH1,downstream_gene_variant,,ENST00000417583,;IDH1,downstream_gene_variant,,ENST00000451391,;IDH1,non_coding_transcript_exon_variant,,ENST00000462386,;IDH1,downstream_gene_variant,,ENST00000481557,;	uc002vcs.2	c.395G>A	680/2382	2	2			c.395G>A	Mis				gliobastoma	2	SNP	c.(394-396)CGT>CAT	47	47		p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868	Broad	isocitrate dehydrogenase 1 (NADP+), soluble			209113112		0.393	ENSG00000138413	7363	g.chr2:209113112C>T	2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	Pancreas(158;264 1958 3300 35450 36047)		134	Pancreas(158;264 1958 3300 35450 36047)		134	168.558543	KEEP	28	33	-1	43	42	28	33	-1	169.26936	43	42	0.422222	1	0	0	0	0	1	0	0	0	--	--		0	T			IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	14	GBM-06-0128-TP	p.R132H	C	ATAAGCATGACGACCTATGAT	NM_005896	NP_005887	209113112	O75874	IDHC_HUMAN	0		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	641	-	T	T			Missense_Mutation	132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		Substrate.		
IDH1	3417	broad.mit.edu	GRCh37	2	209113112	209113112	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-06-0129-01	TCGA-06-0129-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345146.2:c.395G>A	p.Arg132His	p.R132H	ENST00000345146	NM_005896.2	132	cGt/cAt	0			1			T	R/H	uc002vcs.2	protein_coding		CCDS2381.1			395/1245	Mis				gliobastoma	pathogenic		p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868	c.(394-396)CGT>CAT			hmmpanther:PTHR11822,Gene3D:3.40.718.10,Pfam_domain:PF00180,TIGRFAM_domain:TIGR00127,PIRSF_domain:PIRSF000108,Superfamily_domains:SSF53659	isocitrate dehydrogenase 1 (NADP+), soluble				ENSP00000260985		10-Apr									rs121913500,COSM28746	10-Apr	.		ENST00000345146	Transcript	1		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	ENSG00000138413	g.chr2:209113112C>T	5382			MODERATE								--	--	1																																		IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	1,1			possibly_damaging(0.813)	p.R132H	NM_005896	NP_005887		deleterious_low_confidence(0.01)	0,1	IDHC_HUMAN	IDH1	HGNC	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	Q6FHQ6_HUMAN,Q0QER2_HUMAN,C9JLU6_HUMAN,C9JJE5_HUMAN,C9J4N6_HUMAN,B4DXS4_HUMAN		4	641	-			UPI000012D1B4	132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		Substrate.	SNV	IDH1,missense_variant,p.Arg132His,ENST00000415913,NM_001282387.1;IDH1,missense_variant,p.Arg132His,ENST00000345146,NM_005896.2;IDH1,missense_variant,p.Arg132His,ENST00000446179,NM_001282386.1;IDH1,missense_variant,p.Arg132His,ENST00000415282,;IDH1,downstream_gene_variant,,ENST00000417583,;IDH1,downstream_gene_variant,,ENST00000451391,;IDH1,non_coding_transcript_exon_variant,,ENST00000462386,;IDH1,downstream_gene_variant,,ENST00000481557,;	uc002vcs.2	c.395G>A	680/2382	2	2			c.395G>A	Mis				gliobastoma	2	SNP	c.(394-396)CGT>CAT	47	47		p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868	Broad	isocitrate dehydrogenase 1 (NADP+), soluble			209113112		0.393	ENSG00000138413	7363	g.chr2:209113112C>T	2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	Pancreas(158;264 1958 3300 35450 36047)		134	Pancreas(158;264 1958 3300 35450 36047)		134	90.333576	KEEP	21	15	-1	41	37	21	15	-1	93.69546	41	37	0.311321	1	0	0	0	0	1	0	0	0	--	--		0	T			IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	15	GBM-06-0129-TP	p.R132H	C	ATAAGCATGACGACCTATGAT	NM_005896	NP_005887	209113112	O75874	IDHC_HUMAN	0		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	641	-	T	T			Missense_Mutation	132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		Substrate.		
IDH1	3417	broad.mit.edu	GRCh37	2	209113113	209113113	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-06-0221-01	TCGA-06-0221-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345146.2:c.394C>G	p.Arg132Gly	p.R132G	ENST00000345146	NM_005896.2	132	Cgt/Ggt	0			1			C	R/G	uc002vcs.2	protein_coding		CCDS2381.1			394/1245	Mis				gliobastoma			p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868	c.(394-396)CGT>GGT			hmmpanther:PTHR11822,Gene3D:3.40.718.10,Pfam_domain:PF00180,TIGRFAM_domain:TIGR00127,PIRSF_domain:PIRSF000108,Superfamily_domains:SSF53659	isocitrate dehydrogenase 1 (NADP+), soluble				ENSP00000260985		10-Apr									COSM28749	10-Apr	.		ENST00000345146	Transcript	1		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	ENSG00000138413	g.chr2:209113113G>C	5382			MODERATE		4.54	high	getma.org/?cm=msa&ty=f&p=IDHC_HUMAN&rb=9&re=401&var=R132G	getma.org/pdb.php?prot=IDHC_HUMAN&from=9&to=401&var=R132G	getma.org/?cm=var&var=hg19,2,209113113,G,C&fts=all	R132G	--	--	1																																		IDH1_uc002vct.2_Missense_Mutation_p.R132G|IDH1_uc002vcu.2_Missense_Mutation_p.R132G	1			probably_damaging(0.998)	p.R132G	NM_005896	NP_005887		deleterious_low_confidence(0)	1	IDHC_HUMAN	IDH1	HGNC	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	Q6FHQ6_HUMAN,Q0QER2_HUMAN,C9JLU6_HUMAN,C9JJE5_HUMAN,C9J4N6_HUMAN,B4DXS4_HUMAN		4	640	-			UPI000012D1B4	132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		Substrate.	SNV	IDH1,missense_variant,p.Arg132Gly,ENST00000415913,NM_001282387.1;IDH1,missense_variant,p.Arg132Gly,ENST00000345146,NM_005896.2;IDH1,missense_variant,p.Arg132Gly,ENST00000446179,NM_001282386.1;IDH1,missense_variant,p.Arg132Gly,ENST00000415282,;IDH1,downstream_gene_variant,,ENST00000417583,;IDH1,downstream_gene_variant,,ENST00000451391,;IDH1,non_coding_transcript_exon_variant,,ENST00000462386,;IDH1,downstream_gene_variant,,ENST00000481557,;	uc002vcs.2	c.394C>G	679/2382	4	4			c.394C>G	Mis				gliobastoma	2	SNP	c.(394-396)CGT>GGT	42	42		p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868	Broad	isocitrate dehydrogenase 1 (NADP+), soluble			209113113		0.398	ENSG00000138413	7363	g.chr2:209113113G>C	2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	Pancreas(158;264 1958 3300 35450 36047)	p.R132C(SNU1079-Tumor)|p.R132C(HT1080-Tumor)	134	Pancreas(158;264 1958 3300 35450 36047)	p.R132C(SNU1079-Tumor)|p.R132C(HT1080-Tumor)	134	130.774892	KEEP	18	25	-1	38	43	18	25	-1	133.236844	38	43	0.344828	1	0	0	0	0	1	0	0	0	--	--		0	C			IDH1_uc002vct.2_Missense_Mutation_p.R132G|IDH1_uc002vcu.2_Missense_Mutation_p.R132G	53	GBM-06-0221-TP	p.R132G	G	TAAGCATGACGACCTATGATG	NM_005896	NP_005887	209113113	O75874	IDHC_HUMAN	0		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	640	-	C	C			Missense_Mutation	132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		Substrate.		
IDH1	3417	broad.mit.edu	GRCh37	2	209113112	209113112	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-06-2570-01	TCGA-06-2570-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345146.2:c.395G>A	p.Arg132His	p.R132H	ENST00000345146	NM_005896.2	132	cGt/cAt	0			1			T	R/H	uc002vcs.2	protein_coding		CCDS2381.1			395/1245	Mis				gliobastoma	pathogenic		p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868	c.(394-396)CGT>CAT			hmmpanther:PTHR11822,Gene3D:3.40.718.10,Pfam_domain:PF00180,TIGRFAM_domain:TIGR00127,PIRSF_domain:PIRSF000108,Superfamily_domains:SSF53659	isocitrate dehydrogenase 1 (NADP+), soluble				ENSP00000260985		10-Apr									rs121913500,COSM28746	10-Apr	.		ENST00000345146	Transcript	1		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	ENSG00000138413	g.chr2:209113112C>T	5382			MODERATE								--	--	1																																		IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	1,1			possibly_damaging(0.813)	p.R132H	NM_005896	NP_005887		deleterious_low_confidence(0.01)	0,1	IDHC_HUMAN	IDH1	HGNC	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	Q6FHQ6_HUMAN,Q0QER2_HUMAN,C9JLU6_HUMAN,C9JJE5_HUMAN,C9J4N6_HUMAN,B4DXS4_HUMAN		4	641	-			UPI000012D1B4	132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		Substrate.	SNV	IDH1,missense_variant,p.Arg132His,ENST00000415913,NM_001282387.1;IDH1,missense_variant,p.Arg132His,ENST00000345146,NM_005896.2;IDH1,missense_variant,p.Arg132His,ENST00000446179,NM_001282386.1;IDH1,missense_variant,p.Arg132His,ENST00000415282,;IDH1,downstream_gene_variant,,ENST00000417583,;IDH1,downstream_gene_variant,,ENST00000451391,;IDH1,non_coding_transcript_exon_variant,,ENST00000462386,;IDH1,downstream_gene_variant,,ENST00000481557,;	uc002vcs.2	c.395G>A	680/2382	2	2			c.395G>A	Mis				gliobastoma	2	SNP	c.(394-396)CGT>CAT	47	47		p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868	Broad	isocitrate dehydrogenase 1 (NADP+), soluble			209113112		0.393	ENSG00000138413	7363	g.chr2:209113112C>T	2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	Pancreas(158;264 1958 3300 35450 36047)		134	Pancreas(158;264 1958 3300 35450 36047)		134	197.435862	KEEP	36	35	-1	45	40	36	35	-1	197.589134	45	40	0.464789	1	0	0	0	0	1	0	0	0	--	--		0	T			IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	91	GBM-06-2570-TP	p.R132H	C	ATAAGCATGACGACCTATGAT	NM_005896	NP_005887	209113112	O75874	IDHC_HUMAN	0		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	641	-	T	T			Missense_Mutation	132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		Substrate.		
IDH1	3417	broad.mit.edu	GRCh37	2	209113112	209113112	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-06-5417-01	TCGA-06-5417-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345146.2:c.395G>A	p.Arg132His	p.R132H	ENST00000345146	NM_005896.2	132	cGt/cAt	0			1			T	R/H	uc002vcs.2	protein_coding		CCDS2381.1			395/1245	Mis				gliobastoma	pathogenic		p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868	c.(394-396)CGT>CAT			hmmpanther:PTHR11822,Gene3D:3.40.718.10,Pfam_domain:PF00180,TIGRFAM_domain:TIGR00127,PIRSF_domain:PIRSF000108,Superfamily_domains:SSF53659	isocitrate dehydrogenase 1 (NADP+), soluble				ENSP00000260985		10-Apr									rs121913500,COSM28746	10-Apr	.		ENST00000345146	Transcript	1		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	ENSG00000138413	g.chr2:209113112C>T	5382			MODERATE								--	--	1																																		IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	1,1			possibly_damaging(0.813)	p.R132H	NM_005896	NP_005887		deleterious_low_confidence(0.01)	0,1	IDHC_HUMAN	IDH1	HGNC	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	Q6FHQ6_HUMAN,Q0QER2_HUMAN,C9JLU6_HUMAN,C9JJE5_HUMAN,C9J4N6_HUMAN,B4DXS4_HUMAN		4	641	-			UPI000012D1B4	132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		Substrate.	SNV	IDH1,missense_variant,p.Arg132His,ENST00000415913,NM_001282387.1;IDH1,missense_variant,p.Arg132His,ENST00000345146,NM_005896.2;IDH1,missense_variant,p.Arg132His,ENST00000446179,NM_001282386.1;IDH1,missense_variant,p.Arg132His,ENST00000415282,;IDH1,downstream_gene_variant,,ENST00000417583,;IDH1,downstream_gene_variant,,ENST00000451391,;IDH1,non_coding_transcript_exon_variant,,ENST00000462386,;IDH1,downstream_gene_variant,,ENST00000481557,;	uc002vcs.2	c.395G>A	680/2382	2	2			c.395G>A	Mis				gliobastoma	2	SNP	c.(394-396)CGT>CAT	47	47		p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868	Broad	isocitrate dehydrogenase 1 (NADP+), soluble			209113112		0.393	ENSG00000138413	7363	g.chr2:209113112C>T	2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	Pancreas(158;264 1958 3300 35450 36047)		134	Pancreas(158;264 1958 3300 35450 36047)		134	125.806899	KEEP	25	22	-1	38	34	25	22	-1	126.557221	38	34	0.409524	1	0	0	0	0	1	0	0	0	--	--		0	T			IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	99	GBM-06-5417-TP	p.R132H	C	ATAAGCATGACGACCTATGAT	NM_005896	NP_005887	209113112	O75874	IDHC_HUMAN	0		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	641	-	T	T			Missense_Mutation	132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		Substrate.		
IDH1	3417	broad.mit.edu	GRCh37	2	209113112	209113112	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-06-6389-01	TCGA-06-6389-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345146.2:c.395G>A	p.Arg132His	p.R132H	ENST00000345146	NM_005896.2	132	cGt/cAt	0			1			T	R/H	uc002vcs.2	protein_coding		CCDS2381.1			395/1245	Mis				gliobastoma	pathogenic		p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868	c.(394-396)CGT>CAT			hmmpanther:PTHR11822,Gene3D:3.40.718.10,Pfam_domain:PF00180,TIGRFAM_domain:TIGR00127,PIRSF_domain:PIRSF000108,Superfamily_domains:SSF53659	isocitrate dehydrogenase 1 (NADP+), soluble				ENSP00000260985		10-Apr									rs121913500,COSM28746	10-Apr	.		ENST00000345146	Transcript	1		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	ENSG00000138413	g.chr2:209113112C>T	5382			MODERATE								--	--	1																																		IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	1,1			possibly_damaging(0.813)	p.R132H	NM_005896	NP_005887		deleterious_low_confidence(0.01)	0,1	IDHC_HUMAN	IDH1	HGNC	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	Q6FHQ6_HUMAN,Q0QER2_HUMAN,C9JLU6_HUMAN,C9JJE5_HUMAN,C9J4N6_HUMAN,B4DXS4_HUMAN		4	641	-			UPI000012D1B4	132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		Substrate.	SNV	IDH1,missense_variant,p.Arg132His,ENST00000415913,NM_001282387.1;IDH1,missense_variant,p.Arg132His,ENST00000345146,NM_005896.2;IDH1,missense_variant,p.Arg132His,ENST00000446179,NM_001282386.1;IDH1,missense_variant,p.Arg132His,ENST00000415282,;IDH1,downstream_gene_variant,,ENST00000417583,;IDH1,downstream_gene_variant,,ENST00000451391,;IDH1,non_coding_transcript_exon_variant,,ENST00000462386,;IDH1,downstream_gene_variant,,ENST00000481557,;	uc002vcs.2	c.395G>A	680/2382	2	2			c.395G>A	Mis				gliobastoma	2	SNP	c.(394-396)CGT>CAT	47	47		p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868	Broad	isocitrate dehydrogenase 1 (NADP+), soluble			209113112		0.393	ENSG00000138413	7363	g.chr2:209113112C>T	2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	Pancreas(158;264 1958 3300 35450 36047)		134	Pancreas(158;264 1958 3300 35450 36047)		134	74.072682	KEEP	11	18	-1	15	47	11	18	-1	75.608693	15	47	0.346667	1	0	0	0	0	1	0	0	0	--	--		0	T			IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	105	GBM-06-6389-TP	p.R132H	C	ATAAGCATGACGACCTATGAT	NM_005896	NP_005887	209113112	O75874	IDHC_HUMAN	0		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	641	-	T	T			Missense_Mutation	132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		Substrate.		
IDH1	0	broad.mit.edu	GRCh37	2	209113112	209113112	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-06-6701-01	TCGA-06-6701-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345146.2:c.395G>A	p.Arg132His	p.R132H	ENST00000345146	NM_005896.2	132	cGt/cAt	0			1			T	R/H	uc002vcs.2	protein_coding		CCDS2381.1			395/1245	Mis				gliobastoma	pathogenic		p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868	c.(394-396)CGT>CAT			hmmpanther:PTHR11822,Gene3D:3.40.718.10,Pfam_domain:PF00180,TIGRFAM_domain:TIGR00127,PIRSF_domain:PIRSF000108,Superfamily_domains:SSF53659	isocitrate dehydrogenase 1 (NADP+), soluble				ENSP00000260985		10-Apr									rs121913500,COSM28746	10-Apr	.		ENST00000345146	Transcript	1		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	ENSG00000138413	g.chr2:209113112C>T	5382			MODERATE								--	--	1																																		IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	1,1			possibly_damaging(0.813)	p.R132H	NM_005896	NP_005887		deleterious_low_confidence(0.01)	0,1	IDHC_HUMAN	IDH1	HGNC	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	Q6FHQ6_HUMAN,Q0QER2_HUMAN,C9JLU6_HUMAN,C9JJE5_HUMAN,C9J4N6_HUMAN,B4DXS4_HUMAN		4	641	-			UPI000012D1B4	132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		Substrate.	SNV	IDH1,missense_variant,p.Arg132His,ENST00000415913,NM_001282387.1;IDH1,missense_variant,p.Arg132His,ENST00000345146,NM_005896.2;IDH1,missense_variant,p.Arg132His,ENST00000446179,NM_001282386.1;IDH1,missense_variant,p.Arg132His,ENST00000415282,;IDH1,downstream_gene_variant,,ENST00000417583,;IDH1,downstream_gene_variant,,ENST00000451391,;IDH1,non_coding_transcript_exon_variant,,ENST00000462386,;IDH1,downstream_gene_variant,,ENST00000481557,;	uc002vcs.2	c.395G>A	680/2382	2	2			c.395G>A	Mis				gliobastoma	2	SNP	c.(394-396)CGT>CAT	47	47		p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868	Broad	isocitrate dehydrogenase 1 (NADP+), soluble			209113112		0.393	ENSG00000138413	7363	g.chr2:209113112C>T	2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	Pancreas(158;264 1958 3300 35450 36047)		134	Pancreas(158;264 1958 3300 35450 36047)		134	80.205169	KEEP	17	21	-1	29	17	17	21	-1	80.466337	29	17	0.434783	1	0	0	0	0	1	0	0	0	--	--		0	T			IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	115	GBM-06-6701-TP	p.R132H	C	ATAAGCATGACGACCTATGAT	NM_005896	NP_005887	209113112	O75874	IDHC_HUMAN	0		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	641	-	T	T			Missense_Mutation	132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		Substrate.		
IDH1	0	broad.mit.edu	GRCh37	2	209113112	209113112	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-14-1456-01	TCGA-14-1456-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345146.2:c.395G>A	p.Arg132His	p.R132H	ENST00000345146	NM_005896.2	132	cGt/cAt	0			1			T	R/H	uc002vcs.2	protein_coding		CCDS2381.1			395/1245	Mis				gliobastoma	pathogenic		p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868	c.(394-396)CGT>CAT			hmmpanther:PTHR11822,Gene3D:3.40.718.10,Pfam_domain:PF00180,TIGRFAM_domain:TIGR00127,PIRSF_domain:PIRSF000108,Superfamily_domains:SSF53659	isocitrate dehydrogenase 1 (NADP+), soluble				ENSP00000260985		10-Apr									rs121913500,COSM28746	10-Apr	.		ENST00000345146	Transcript	1		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	ENSG00000138413	g.chr2:209113112C>T	5382			MODERATE								--	--	1																																		IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	1,1			possibly_damaging(0.813)	p.R132H	NM_005896	NP_005887		deleterious_low_confidence(0.01)	0,1	IDHC_HUMAN	IDH1	HGNC	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	Q6FHQ6_HUMAN,Q0QER2_HUMAN,C9JLU6_HUMAN,C9JJE5_HUMAN,C9J4N6_HUMAN,B4DXS4_HUMAN		4	641	-			UPI000012D1B4	132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		Substrate.	SNV	IDH1,missense_variant,p.Arg132His,ENST00000415913,NM_001282387.1;IDH1,missense_variant,p.Arg132His,ENST00000345146,NM_005896.2;IDH1,missense_variant,p.Arg132His,ENST00000446179,NM_001282386.1;IDH1,missense_variant,p.Arg132His,ENST00000415282,;IDH1,downstream_gene_variant,,ENST00000417583,;IDH1,downstream_gene_variant,,ENST00000451391,;IDH1,non_coding_transcript_exon_variant,,ENST00000462386,;IDH1,downstream_gene_variant,,ENST00000481557,;	uc002vcs.2	c.395G>A	680/2382	2	2			c.395G>A	Mis				gliobastoma	2	SNP	c.(394-396)CGT>CAT	47	47		p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868	Broad	isocitrate dehydrogenase 1 (NADP+), soluble			209113112		0.393	ENSG00000138413	7363	g.chr2:209113112C>T	2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	Pancreas(158;264 1958 3300 35450 36047)		134	Pancreas(158;264 1958 3300 35450 36047)		134	96.625849	KEEP	16	25	-1	53	53	16	25	-1	102.192497	53	53	0.282443	1	0	0	0	0	1	0	0	0	--	--		0	T			IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	146	GBM-14-1456-TP	p.R132H	C	ATAAGCATGACGACCTATGAT	NM_005896	NP_005887	209113112	O75874	IDHC_HUMAN	0		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	641	-	T	T			Missense_Mutation	132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		Substrate.		
IDH1	0	broad.mit.edu	GRCh37	2	209113112	209113112	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-14-4157-01	TCGA-14-4157-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345146.2:c.395G>A	p.Arg132His	p.R132H	ENST00000345146	NM_005896.2	132	cGt/cAt	0			1			T	R/H	uc002vcs.2	protein_coding		CCDS2381.1			395/1245	Mis				gliobastoma	pathogenic		p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868	c.(394-396)CGT>CAT			hmmpanther:PTHR11822,Gene3D:3.40.718.10,Pfam_domain:PF00180,TIGRFAM_domain:TIGR00127,PIRSF_domain:PIRSF000108,Superfamily_domains:SSF53659	isocitrate dehydrogenase 1 (NADP+), soluble				ENSP00000260985		10-Apr									rs121913500,COSM28746	10-Apr	.		ENST00000345146	Transcript	1		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	ENSG00000138413	g.chr2:209113112C>T	5382			MODERATE								--	--	1																																		IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	1,1			possibly_damaging(0.813)	p.R132H	NM_005896	NP_005887		deleterious_low_confidence(0.01)	0,1	IDHC_HUMAN	IDH1	HGNC	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	Q6FHQ6_HUMAN,Q0QER2_HUMAN,C9JLU6_HUMAN,C9JJE5_HUMAN,C9J4N6_HUMAN,B4DXS4_HUMAN		4	641	-			UPI000012D1B4	132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		Substrate.	SNV	IDH1,missense_variant,p.Arg132His,ENST00000415913,NM_001282387.1;IDH1,missense_variant,p.Arg132His,ENST00000345146,NM_005896.2;IDH1,missense_variant,p.Arg132His,ENST00000446179,NM_001282386.1;IDH1,missense_variant,p.Arg132His,ENST00000415282,;IDH1,downstream_gene_variant,,ENST00000417583,;IDH1,downstream_gene_variant,,ENST00000451391,;IDH1,non_coding_transcript_exon_variant,,ENST00000462386,;IDH1,downstream_gene_variant,,ENST00000481557,;	uc002vcs.2	c.395G>A	680/2382	2	2			c.395G>A	Mis				gliobastoma	2	SNP	c.(394-396)CGT>CAT	47	47		p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868	Broad	isocitrate dehydrogenase 1 (NADP+), soluble			209113112		0.393	ENSG00000138413	7363	g.chr2:209113112C>T	2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	Pancreas(158;264 1958 3300 35450 36047)		134	Pancreas(158;264 1958 3300 35450 36047)		134	119.060906	KEEP	20	28	-1	47	41	20	28	-1	121.148256	47	41	0.360656	1	0	0	0	0	1	0	0	0	--	--		0	T			IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	152	GBM-14-4157-TP	p.R132H	C	ATAAGCATGACGACCTATGAT	NM_005896	NP_005887	209113112	O75874	IDHC_HUMAN	0		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	641	-	T	T			Missense_Mutation	132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		Substrate.		
IDH1	0	broad.mit.edu	GRCh37	2	209113113	209113113	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-15-1444-01	TCGA-15-1444-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345146.2:c.394C>G	p.Arg132Gly	p.R132G	ENST00000345146	NM_005896.2	132	Cgt/Ggt	0			1			C	R/G	uc002vcs.2	protein_coding		CCDS2381.1			394/1245	Mis				gliobastoma			p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868	c.(394-396)CGT>GGT			hmmpanther:PTHR11822,Gene3D:3.40.718.10,Pfam_domain:PF00180,TIGRFAM_domain:TIGR00127,PIRSF_domain:PIRSF000108,Superfamily_domains:SSF53659	isocitrate dehydrogenase 1 (NADP+), soluble				ENSP00000260985		10-Apr									COSM28749	10-Apr	.		ENST00000345146	Transcript	1		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	ENSG00000138413	g.chr2:209113113G>C	5382			MODERATE		4.54	high	getma.org/?cm=msa&ty=f&p=IDHC_HUMAN&rb=9&re=401&var=R132G	getma.org/pdb.php?prot=IDHC_HUMAN&from=9&to=401&var=R132G	getma.org/?cm=var&var=hg19,2,209113113,G,C&fts=all	R132G	--	--	1																																		IDH1_uc002vct.2_Missense_Mutation_p.R132G|IDH1_uc002vcu.2_Missense_Mutation_p.R132G	1			probably_damaging(0.998)	p.R132G	NM_005896	NP_005887		deleterious_low_confidence(0)	1	IDHC_HUMAN	IDH1	HGNC	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	Q6FHQ6_HUMAN,Q0QER2_HUMAN,C9JLU6_HUMAN,C9JJE5_HUMAN,C9J4N6_HUMAN,B4DXS4_HUMAN		4	640	-			UPI000012D1B4	132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		Substrate.	SNV	IDH1,missense_variant,p.Arg132Gly,ENST00000415913,NM_001282387.1;IDH1,missense_variant,p.Arg132Gly,ENST00000345146,NM_005896.2;IDH1,missense_variant,p.Arg132Gly,ENST00000446179,NM_001282386.1;IDH1,missense_variant,p.Arg132Gly,ENST00000415282,;IDH1,downstream_gene_variant,,ENST00000417583,;IDH1,downstream_gene_variant,,ENST00000451391,;IDH1,non_coding_transcript_exon_variant,,ENST00000462386,;IDH1,downstream_gene_variant,,ENST00000481557,;	uc002vcs.2	c.394C>G	679/2382	4	4			c.394C>G	Mis				gliobastoma	2	SNP	c.(394-396)CGT>GGT	42	42		p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868	Broad	isocitrate dehydrogenase 1 (NADP+), soluble			209113113		0.398	ENSG00000138413	7363	g.chr2:209113113G>C	2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	Pancreas(158;264 1958 3300 35450 36047)	p.R132C(SNU1079-Tumor)|p.R132C(HT1080-Tumor)	134	Pancreas(158;264 1958 3300 35450 36047)	p.R132C(SNU1079-Tumor)|p.R132C(HT1080-Tumor)	134	77.410847	KEEP	11	13	-1	31	25	11	13	-1	78.861574	31	25	0.343284	1	0	0	0	0	1	0	0	0	--	--		0	C			IDH1_uc002vct.2_Missense_Mutation_p.R132G|IDH1_uc002vcu.2_Missense_Mutation_p.R132G	154	GBM-15-1444-TP	p.R132G	G	TAAGCATGACGACCTATGATG	NM_005896	NP_005887	209113113	O75874	IDHC_HUMAN	0		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	640	-	C	C			Missense_Mutation	132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		Substrate.		
IDH1	0	broad.mit.edu	GRCh37	2	209113112	209113112	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-19-2629-01	TCGA-19-2629-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345146.2:c.395G>A	p.Arg132His	p.R132H	ENST00000345146	NM_005896.2	132	cGt/cAt	0			1			T	R/H	uc002vcs.2	protein_coding		CCDS2381.1			395/1245	Mis				gliobastoma	pathogenic		p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868	c.(394-396)CGT>CAT			hmmpanther:PTHR11822,Gene3D:3.40.718.10,Pfam_domain:PF00180,TIGRFAM_domain:TIGR00127,PIRSF_domain:PIRSF000108,Superfamily_domains:SSF53659	isocitrate dehydrogenase 1 (NADP+), soluble				ENSP00000260985		10-Apr									rs121913500,COSM28746	10-Apr	.		ENST00000345146	Transcript	1		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	ENSG00000138413	g.chr2:209113112C>T	5382			MODERATE								--	--	1																																		IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	1,1			possibly_damaging(0.813)	p.R132H	NM_005896	NP_005887		deleterious_low_confidence(0.01)	0,1	IDHC_HUMAN	IDH1	HGNC	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	Q6FHQ6_HUMAN,Q0QER2_HUMAN,C9JLU6_HUMAN,C9JJE5_HUMAN,C9J4N6_HUMAN,B4DXS4_HUMAN		4	641	-			UPI000012D1B4	132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		Substrate.	SNV	IDH1,missense_variant,p.Arg132His,ENST00000415913,NM_001282387.1;IDH1,missense_variant,p.Arg132His,ENST00000345146,NM_005896.2;IDH1,missense_variant,p.Arg132His,ENST00000446179,NM_001282386.1;IDH1,missense_variant,p.Arg132His,ENST00000415282,;IDH1,downstream_gene_variant,,ENST00000417583,;IDH1,downstream_gene_variant,,ENST00000451391,;IDH1,non_coding_transcript_exon_variant,,ENST00000462386,;IDH1,downstream_gene_variant,,ENST00000481557,;	uc002vcs.2	c.395G>A	680/2382	2	2			c.395G>A	Mis				gliobastoma	2	SNP	c.(394-396)CGT>CAT	47	47		p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868	Broad	isocitrate dehydrogenase 1 (NADP+), soluble			209113112		0.393	ENSG00000138413	7363	g.chr2:209113112C>T	2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	Pancreas(158;264 1958 3300 35450 36047)		134	Pancreas(158;264 1958 3300 35450 36047)		134	119.214605	KEEP	24	19	-1	38	51	24	19	-1	121.710939	38	51	0.347107	1	0	0	0	0	1	0	0	0	--	--		0	T			IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	166	GBM-19-2629-TP	p.R132H	C	ATAAGCATGACGACCTATGAT	NM_005896	NP_005887	209113112	O75874	IDHC_HUMAN	0		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	641	-	T	T			Missense_Mutation	132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		Substrate.		
IDH1	0	broad.mit.edu	GRCh37	2	209113112	209113112	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-26-1442-01	TCGA-26-1442-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345146.2:c.395G>A	p.Arg132His	p.R132H	ENST00000345146	NM_005896.2	132	cGt/cAt	0			1			T	R/H	uc002vcs.2	protein_coding		CCDS2381.1			395/1245	Mis				gliobastoma	pathogenic		p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868	c.(394-396)CGT>CAT			hmmpanther:PTHR11822,Gene3D:3.40.718.10,Pfam_domain:PF00180,TIGRFAM_domain:TIGR00127,PIRSF_domain:PIRSF000108,Superfamily_domains:SSF53659	isocitrate dehydrogenase 1 (NADP+), soluble				ENSP00000260985		10-Apr									rs121913500,COSM28746	10-Apr	.		ENST00000345146	Transcript	1		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	ENSG00000138413	g.chr2:209113112C>T	5382			MODERATE								--	--	1																																		IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	1,1			possibly_damaging(0.813)	p.R132H	NM_005896	NP_005887		deleterious_low_confidence(0.01)	0,1	IDHC_HUMAN	IDH1	HGNC	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	Q6FHQ6_HUMAN,Q0QER2_HUMAN,C9JLU6_HUMAN,C9JJE5_HUMAN,C9J4N6_HUMAN,B4DXS4_HUMAN		4	641	-			UPI000012D1B4	132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		Substrate.	SNV	IDH1,missense_variant,p.Arg132His,ENST00000415913,NM_001282387.1;IDH1,missense_variant,p.Arg132His,ENST00000345146,NM_005896.2;IDH1,missense_variant,p.Arg132His,ENST00000446179,NM_001282386.1;IDH1,missense_variant,p.Arg132His,ENST00000415282,;IDH1,downstream_gene_variant,,ENST00000417583,;IDH1,downstream_gene_variant,,ENST00000451391,;IDH1,non_coding_transcript_exon_variant,,ENST00000462386,;IDH1,downstream_gene_variant,,ENST00000481557,;	uc002vcs.2	c.395G>A	680/2382	2	2			c.395G>A	Mis				gliobastoma	2	SNP	c.(394-396)CGT>CAT	47	47		p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868	Broad	isocitrate dehydrogenase 1 (NADP+), soluble			209113112		0.393	ENSG00000138413	7363	g.chr2:209113112C>T	2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	Pancreas(158;264 1958 3300 35450 36047)		134	Pancreas(158;264 1958 3300 35450 36047)		134	66.458995	KEEP	11	15	-1	17	12	11	15	-1	66.567343	17	12	0.44898	1	0	0	0	0	1	0	0	0	--	--		0	T			IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	180	GBM-26-1442-TP	p.R132H	C	ATAAGCATGACGACCTATGAT	NM_005896	NP_005887	209113112	O75874	IDHC_HUMAN	0		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	641	-	T	T			Missense_Mutation	132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		Substrate.		
IDH1	0	broad.mit.edu	GRCh37	2	209113112	209113112	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-27-2521-01	TCGA-27-2521-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345146.2:c.395G>A	p.Arg132His	p.R132H	ENST00000345146	NM_005896.2	132	cGt/cAt	0			1			T	R/H	uc002vcs.2	protein_coding		CCDS2381.1			395/1245	Mis				gliobastoma	pathogenic		p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868	c.(394-396)CGT>CAT			hmmpanther:PTHR11822,Gene3D:3.40.718.10,Pfam_domain:PF00180,TIGRFAM_domain:TIGR00127,PIRSF_domain:PIRSF000108,Superfamily_domains:SSF53659	isocitrate dehydrogenase 1 (NADP+), soluble				ENSP00000260985		10-Apr									rs121913500,COSM28746	10-Apr	.		ENST00000345146	Transcript	1		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	ENSG00000138413	g.chr2:209113112C>T	5382			MODERATE								--	--	1																																		IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	1,1			possibly_damaging(0.813)	p.R132H	NM_005896	NP_005887		deleterious_low_confidence(0.01)	0,1	IDHC_HUMAN	IDH1	HGNC	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	Q6FHQ6_HUMAN,Q0QER2_HUMAN,C9JLU6_HUMAN,C9JJE5_HUMAN,C9J4N6_HUMAN,B4DXS4_HUMAN		4	641	-			UPI000012D1B4	132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		Substrate.	SNV	IDH1,missense_variant,p.Arg132His,ENST00000415913,NM_001282387.1;IDH1,missense_variant,p.Arg132His,ENST00000345146,NM_005896.2;IDH1,missense_variant,p.Arg132His,ENST00000446179,NM_001282386.1;IDH1,missense_variant,p.Arg132His,ENST00000415282,;IDH1,downstream_gene_variant,,ENST00000417583,;IDH1,downstream_gene_variant,,ENST00000451391,;IDH1,non_coding_transcript_exon_variant,,ENST00000462386,;IDH1,downstream_gene_variant,,ENST00000481557,;	uc002vcs.2	c.395G>A	680/2382	2	2			c.395G>A	Mis				gliobastoma	2	SNP	c.(394-396)CGT>CAT	47	47		p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868	Broad	isocitrate dehydrogenase 1 (NADP+), soluble			209113112		0.393	ENSG00000138413	7363	g.chr2:209113112C>T	2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	Pancreas(158;264 1958 3300 35450 36047)		134	Pancreas(158;264 1958 3300 35450 36047)		134	140.73942	KEEP	31	21	-1	48	56	31	21	-1	144.043906	48	56	0.340136	1	0	0	0	0	1	0	0	0	--	--		0	T			IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	200	GBM-27-2521-TP	p.R132H	C	ATAAGCATGACGACCTATGAT	NM_005896	NP_005887	209113112	O75874	IDHC_HUMAN	0		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	641	-	T	T			Missense_Mutation	132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		Substrate.		
IDH1	0	broad.mit.edu	GRCh37	2	209113112	209113112	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-32-4208-01	TCGA-32-4208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345146.2:c.395G>A	p.Arg132His	p.R132H	ENST00000345146	NM_005896.2	132	cGt/cAt	0			1			T	R/H	uc002vcs.2	protein_coding		CCDS2381.1			395/1245	Mis				gliobastoma	pathogenic		p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868	c.(394-396)CGT>CAT			hmmpanther:PTHR11822,Gene3D:3.40.718.10,Pfam_domain:PF00180,TIGRFAM_domain:TIGR00127,PIRSF_domain:PIRSF000108,Superfamily_domains:SSF53659	isocitrate dehydrogenase 1 (NADP+), soluble				ENSP00000260985		10-Apr									rs121913500,COSM28746	10-Apr	.		ENST00000345146	Transcript	1		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	ENSG00000138413	g.chr2:209113112C>T	5382			MODERATE								--	--	1																																		IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	1,1			possibly_damaging(0.813)	p.R132H	NM_005896	NP_005887		deleterious_low_confidence(0.01)	0,1	IDHC_HUMAN	IDH1	HGNC	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	Q6FHQ6_HUMAN,Q0QER2_HUMAN,C9JLU6_HUMAN,C9JJE5_HUMAN,C9J4N6_HUMAN,B4DXS4_HUMAN		4	641	-			UPI000012D1B4	132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		Substrate.	SNV	IDH1,missense_variant,p.Arg132His,ENST00000415913,NM_001282387.1;IDH1,missense_variant,p.Arg132His,ENST00000345146,NM_005896.2;IDH1,missense_variant,p.Arg132His,ENST00000446179,NM_001282386.1;IDH1,missense_variant,p.Arg132His,ENST00000415282,;IDH1,downstream_gene_variant,,ENST00000417583,;IDH1,downstream_gene_variant,,ENST00000451391,;IDH1,non_coding_transcript_exon_variant,,ENST00000462386,;IDH1,downstream_gene_variant,,ENST00000481557,;	uc002vcs.2	c.395G>A	680/2382	2	2			c.395G>A	Mis				gliobastoma	2	SNP	c.(394-396)CGT>CAT	47	47		p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868	Broad	isocitrate dehydrogenase 1 (NADP+), soluble			209113112		0.393	ENSG00000138413	7363	g.chr2:209113112C>T	2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	Pancreas(158;264 1958 3300 35450 36047)		134	Pancreas(158;264 1958 3300 35450 36047)		134	113.305797	KEEP	24	26	-1	49	44	24	26	-1	116.658963	49	44	0.328125	1	0	0	0	0	1	0	0	0	--	--		0	T			IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	243	GBM-32-4208-TP	p.R132H	C	ATAAGCATGACGACCTATGAT	NM_005896	NP_005887	209113112	O75874	IDHC_HUMAN	0		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	641	-	T	T			Missense_Mutation	132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		Substrate.		
IDNK	414328		GRCh37	9	86258531	86258531	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000376419.4:c.400C>T	p.Arg134Cys	p.R134C	ENST00000376419	NM_001001551.3	134	Cgc/Tgc	0																																																																																																																																																																																																																																												
IDO1	3620	broad.mit.edu	GRCh37	8	39785510	39785510	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0875-01	TCGA-06-0875-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000518237.1:c.1018G>C	p.Val340Leu	p.V340L	ENST00000518237	NM_002164.5	340	Gtc/Ctc	0			1			C	V/L	uc003xnm.2	protein_coding	YES	CCDS47847.1			1018/1212									central_nervous_system(2)	2	c.(1018-1020)GTC>CTC			Pfam_domain:PF01231,Superfamily_domains:SSF140959	indoleamine 2,3-dioxygenase 1	L-Tryptophan(DB00150)			ENSP00000430950		10-Oct									COSM3413018	10-Oct	.		ENST00000518237	Transcript			female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	ENSG00000131203	g.chr8:39785510G>C	6059			MODERATE		2.105	medium	getma.org/?cm=msa&ty=f&p=I23O1_HUMAN&rb=8&re=400&var=V340L	getma.org/pdb.php?prot=I23O1_HUMAN&from=8&to=400&var=V340L	getma.org/?cm=var&var=hg19,8,39785510,G,C&fts=all	V340L	--	--	1																																		IDO1_uc003xnn.2_RNA	1	1		benign(0.202)	p.V340L	NM_002164	NP_002155		tolerated(0.15)	1	I23O1_HUMAN	IDO1	HGNC	P14902	I23O1_HUMAN			E5RIX2_HUMAN,E5RH36_HUMAN,E5RGR8_HUMAN		10	1132	+			UPI00000012AA	340					SNV	IDO1,missense_variant,p.Val340Leu,ENST00000518237,NM_002164.5;IDO1,missense_variant,p.Val340Leu,ENST00000522495,;RP11-44K6.3,intron_variant,,ENST00000517623,;IDO1,3_prime_UTR_variant,,ENST00000253513,;IDO1,non_coding_transcript_exon_variant,,ENST00000523779,;IDO1,downstream_gene_variant,,ENST00000521480,;	uc003xnm.2	c.1018G>C	1657/2097	3	3			c.1018G>C						8	SNP	c.(1018-1020)GTC>CTC	63	63			central_nervous_system(2)	2	Broad	indoleamine 2,3-dioxygenase 1		L-Tryptophan(DB00150)	39785510		0.498	ENSG00000131203	7370	g.chr8:39785510G>C	female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity							9.384501	KEEP	3	1	-1	9	11	3	1	-1	11.912821	9	11	0.166667	1	0	0	0	0	1	0	0	0	--	--		0	C			IDO1_uc003xnn.2_RNA	71	GBM-06-0875-TP	p.V340L	G	GAAAGCTCTGGTCTCCCTGAG	NM_002164	NP_002155	39785510	P14902	I23O1_HUMAN	0			10	1132	+	C	C			Missense_Mutation	340						
IDO2	0	broad.mit.edu	GRCh37	8	39836613	39836613	+	stop_gained	Nonsense_Mutation	SNP	A	A	T			TCGA-19-5954-01	TCGA-19-5954-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389060.4:c.223A>T	p.Lys75Ter	p.K75*	ENST00000389060		75	Aag/Tag	0			1			T	K/*	uc010lwy.1	protein_coding					223/1224									ovary(2)	2	c.(262-264)AAG>TAG			Pfam_domain:PF01231,Superfamily_domains:SSF140959	indoleamine-pyrrole 2,3 dioxygenase-like 1				ENSP00000426447		10-Mar									COSM3413020,COSM3413019	10-Mar	.		ENST00000389060	Transcript			tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	ENSG00000188676	g.chr8:39836613A>T	27269			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,8,39836613,A,T&fts=all	K75*	--	--	1																																		IDO2_uc003xno.1_RNA|IDO2_uc010lwz.1_5'UTR	1,1				p.K88*	NM_194294	NP_919270			1,1	I23O2_HUMAN	IDO2	HGNC	Q6ZQW0	I23O2_HUMAN					4	504	+			UPI0001502AB1	75					SNV	IDO2,stop_gained,p.Lys88Ter,ENST00000502986,NM_194294.2;IDO2,stop_gained,p.Lys75Ter,ENST00000389060,;RP11-44K6.3,intron_variant,,ENST00000517623,;IDO2,non_coding_transcript_exon_variant,,ENST00000343295,;	uc010lwy.1	c.262A>T	223/1227	5	2			c.262A>T						8	SNP	c.(262-264)AAG>TAG	20	20			ovary(2)	2	Broad	indoleamine-pyrrole 2,3 dioxygenase-like 1			39836613		0.637	ENSG00000188676	7371	g.chr8:39836613A>T	tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity							9.291925	KEEP	0	4	-1	3	9	0	4	-1	10.03069	3	9	0.266667	1	0	0	0	0	0	1	0	0	--	--		0	T			IDO2_uc003xno.1_RNA|IDO2_uc010lwz.1_5'UTR	174	GBM-19-5954-TP	p.K88*	A	CCAGTTCCTGAAGGGTCACCG	NM_194294	NP_919270	39836613	Q6ZQW0	I23O2_HUMAN	0			4	504	+	T	T			Nonsense_Mutation	75						
IDUA	0	broad.mit.edu	GRCh37	4	995507	995507	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0789-01	TCGA-14-0789-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000247933.4:c.630C>T	p.Arg210=	p.R210=	ENST00000247933	NM_000203.3	210	cgC/cgT	0	T:0		1			T	R	uc003gby.2	protein_coding	YES	CCDS3343.1			630/1962										0	c.(628-630)CGC>CGT			hmmpanther:PTHR12631:SF4,hmmpanther:PTHR12631,Gene3D:3.20.20.80,Pfam_domain:PF01229,Superfamily_domains:SSF51445	alpha-L-iduronidase precursor	Laronidase(DB00090)		T:0.0007	ENSP00000247933		14-Jun	0.000184					0.000199	0.00159	0.000548	rs376012666,COSM3409642,COSM3409643	14-Jun	common_variant		ENST00000247933	Transcript	1		disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity	ENSG00000127415	g.chr4:995507C>T	5391			LOW								--	--	1																																		IDUA_uc003gbz.2_RNA|IDUA_uc003gca.2_Silent_p.R163R	0,1,1	1			p.R210R	NM_000203	NP_000194			0,1,1	IDUA_HUMAN	IDUA	HGNC	P35475	IDUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		J9QQV7_HUMAN,D6REB5_HUMAN		6	718	+			UPI00004571D0	210					SNV	IDUA,synonymous_variant,p.=,ENST00000453894,;IDUA,synonymous_variant,p.=,ENST00000247933,NM_000203.3;IDUA,synonymous_variant,p.=,ENST00000514224,;IDUA,synonymous_variant,p.=,ENST00000509948,;IDUA,synonymous_variant,p.=,ENST00000502910,;IDUA,synonymous_variant,p.=,ENST00000514192,;IDUA,downstream_gene_variant,,ENST00000504568,;IDUA,non_coding_transcript_exon_variant,,ENST00000514698,;IDUA,downstream_gene_variant,,ENST00000506561,;IDUA,upstream_gene_variant,,ENST00000502829,;IDUA,downstream_gene_variant,,ENST00000508168,;IDUA,upstream_gene_variant,,ENST00000514417,;	uc003gby.2	c.630C>T	718/2163	2	2			c.630C>T						4	SNP	c.(628-630)CGC>CGT	42	42				0	Broad	alpha-L-iduronidase precursor		Laronidase(DB00090)	995507		0.716	ENSG00000127415	7373	g.chr4:995507C>T	disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity							10.675008	KEEP	3	4	-1	13	13	3	4	-1	12.169218	13	13	0.227273	1	0	0	0	0	0	0	1	0	--	--		0	T			IDUA_uc003gbz.2_RNA|IDUA_uc003gca.2_Silent_p.R163R	136	GBM-14-0789-TP	p.R210R	C	AGGGTCTGCGCGCCGCCAGCC	NM_000203	NP_000194	995507	P35475	IDUA_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		6	718	+	T	T			Silent	210						
IDUA	3425		GRCh37	4	995272	995272	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000247933.4:c.510G>A	p.Ala170=	p.A170=	ENST00000247933	NM_000203.3	170	gcG/gcA	0																																																																																																																																																																																																																																												
IER3	8870		GRCh37	6	30711832	30711832	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000259874.5:c.352G>A	p.Ala118Thr	p.A118T	ENST00000259874	NM_003897.3	118	Gca/Aca	0																																																																																																																																																																																																																																												
IFI16	0	broad.mit.edu	GRCh37	1	159015232	159015232	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-2631-01	TCGA-19-2631-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295809.7:c.1475C>A	p.Pro492Gln	p.P492Q	ENST00000295809		492	cCa/cAa	0			1			A	P/Q	uc010pis.1	protein_coding					1475/2358									ovary(1)	1	c.(1306-1308)CCA>CAA			hmmpanther:PTHR12200,hmmpanther:PTHR12200:SF5,Low_complexity_(Seg):seg	interferon, gamma-inducible protein 16				ENSP00000295809		12-Aug									COSM2156407,COSM2156408	12-Aug	.		ENST00000295809	Transcript			cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	ENSG00000163565	g.chr1:159015232C>A	5395			MODERATE		1.385	low	getma.org/?cm=msa&ty=f&p=IF16_HUMAN&rb=371&re=570&var=P492Q	NA	getma.org/?cm=var&var=hg19,1,159015232,C,A&fts=all	P492Q	--	--	1																																		IFI16_uc001ftg.2_Intron|IFI16_uc001fth.2_Intron|IFI16_uc010pit.1_Missense_Mutation_p.P91Q	1,1			benign(0.193)	p.P436Q	NM_005531	NP_005522		deleterious(0.01)	1,1	IF16_HUMAN	IFI16	HGNC	Q16666	IF16_HUMAN			H3BVE6_HUMAN,H3BR88_HUMAN,H3BR65_HUMAN,H3BM18_HUMAN		7	1486	+	all_hematologic(112;0.0429)		UPI00001412BE	492					SNV	IFI16,missense_variant,p.Pro492Gln,ENST00000295809,;IFI16,missense_variant,p.Pro492Gln,ENST00000368131,NM_005531.2;IFI16,missense_variant,p.Pro440Gln,ENST00000430894,;IFI16,missense_variant,p.Pro436Gln,ENST00000359709,NM_001206567.1;IFI16,intron_variant,,ENST00000368132,;IFI16,intron_variant,,ENST00000340979,;IFI16,intron_variant,,ENST00000448393,;IFI16,non_coding_transcript_exon_variant,,ENST00000493884,;IFI16,intron_variant,,ENST00000483916,;IFI16,intron_variant,,ENST00000562225,;	uc010pis.1	c.1307C>A	1730/2867	2	2			c.1307C>A						1	SNP	c.(1306-1308)CCA>CAA	33	33			ovary(1)	1	Broad	interferon, gamma-inducible protein 16			159015232		0.488	ENSG00000163565	7380	g.chr1:159015232C>A	cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding							226.679241	KEEP	63	55	0.466101695	174	177	63	55	0.466101695	229.518558	174	177	0.373134	1	0	0	0	0	1	0	0	0	--	--		0	A			IFI16_uc001ftg.2_Intron|IFI16_uc001fth.2_Intron|IFI16_uc010pit.1_Missense_Mutation_p.P91Q	167	GBM-19-2631-TP	p.P436Q	C	CCATCAACACCAAGCAGCAGT	NM_005531	NP_005522	159015232	Q16666	IF16_HUMAN	0			7	1486	+	A	A	all_hematologic(112;0.0429)		Missense_Mutation	492						
IFI27	0	broad.mit.edu	GRCh37	14	94582172	94582172	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-12-1597-01	TCGA-12-1597-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298902.5:c.167C>G	p.Ala56Gly	p.A56G	ENST00000298902	NM_005532.3	56	gCg/gGg	0			1			G	A/G	uc010tws.1	protein_coding		CCDS32148.1			167/360										0	c.(232-234)GGC>GGG			Pfam_domain:PF06140,hmmpanther:PTHR16932,hmmpanther:PTHR16932:SF15,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	interferon, alpha-inducible protein 27 isoform				ENSP00000298902		5-Apr									COSM3401540	5-Apr	.		ENST00000298902	Transcript			activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion		ENSG00000165949	g.chr14:94582172C>G	5397			MODERATE		1.46	low	getma.org/?cm=msa&ty=f&p=IFI27_HUMAN&rb=33&re=115&var=A56G	getma.org/pdb.php?prot=IFI27_HUMAN&from=33&to=115&var=A56G	getma.org/?cm=var&var=hg19,14,94582172,C,G&fts=all	A56G	--	--	1																																		IFI27_uc001ycn.1_RNA|IFI27_uc001yco.2_Missense_Mutation_p.A59G	1			benign(0.005)	p.G78G	NM_005532	NP_005523		tolerated(0.09)	1	IFI27_HUMAN	IFI27	HGNC	P40305	IFI27_HUMAN		Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)	Q7Z5R2_HUMAN,G3V4U3_HUMAN,G3V4L7_HUMAN,G3V3Q7_HUMAN,G3V2M7_HUMAN		4	355	+			UPI000013E535	Error:Variant_position_missing_in_P40305_after_alignment					SNV	IFI27,missense_variant,p.Ala56Gly,ENST00000555744,;IFI27,missense_variant,p.Ala56Gly,ENST00000554448,;IFI27,missense_variant,p.Ala59Gly,ENST00000444961,;IFI27,missense_variant,p.Ala59Gly,ENST00000448882,NM_001130080.2;IFI27,missense_variant,p.Ala56Gly,ENST00000298902,NM_005532.3;IFI27,missense_variant,p.Ala46Gly,ENST00000557634,;IFI27,missense_variant,p.Ala11Gly,ENST00000557098,;IFI27,missense_variant,p.Ala56Gly,ENST00000556544,;IFI27,missense_variant,p.Ala56Gly,ENST00000554800,;IFI27,downstream_gene_variant,,ENST00000555819,;IFI27,missense_variant,p.Ala26Gly,ENST00000557035,;IFI27,non_coding_transcript_exon_variant,,ENST00000553285,;IFI27,non_coding_transcript_exon_variant,,ENST00000555121,;IFI27,downstream_gene_variant,,ENST00000557700,;IFI27,downstream_gene_variant,,ENST00000555081,;	uc010tws.1	c.234C>G	274/635	4	4			c.234C>G						14	SNP	c.(232-234)GGC>GGG	22	22				0	Broad	interferon, alpha-inducible protein 27 isoform			94582172		0.642	ENSG00000165949	7381	g.chr14:94582172C>G	activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion		GBM(128;797 1667 20895 29868 47129)			GBM(128;797 1667 20895 29868 47129)			6.152351	KEEP	0	2	-1	10	2	0	2	-1	6.602645	10	2	0.25	1	0	0	0	0	0	0	1	0	--	--		0	G			IFI27_uc001ycn.1_RNA|IFI27_uc001yco.2_Missense_Mutation_p.A59G	124	GBM-12-1597-TP	p.G78G	C	TTCACTGCGGCGGGAATCGCC	NM_005532	NP_005523	94582172	P40305	IFI27_HUMAN	0		Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)	4	355	+	G	G			Silent	Error:Variant_position_missing_in_P40305_after_alignment						
IFI35	0	broad.mit.edu	GRCh37	17	41166266	41166266	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01	TCGA-27-1830-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000415816.2:c.811G>A	p.Val271Ile	p.V271I	ENST00000415816	NM_005533.4	271	Gta/Ata	0	A:0.0002		1			A	V/I	uc010whj.1	protein_coding					811/861									ovary(1)	1	c.(817-819)GTA>ATA			hmmpanther:PTHR15225:SF1,hmmpanther:PTHR15225	interferon-induced protein 35			A:0	ENSP00000394579		7-Jul	8.24E-06	9.73E-05							rs375429330,COSM3402918	7-Jul	.		ENST00000415816	Transcript			response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding	ENSG00000068079	g.chr17:41166266G>A	5399			MODERATE		1.645	low	getma.org/?cm=msa&ty=f&p=IN35_HUMAN&rb=237&re=286&var=V271I	NA	getma.org/?cm=var&var=hg19,17,41166266,G,A&fts=all	V271I	--	--	1																																			0,1			benign(0.032)	p.V273I	NM_005533	NP_005524		tolerated(0.1)	0,1	IN35_HUMAN	IFI35	HGNC	P80217	IN35_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.157)			7	1013	+		Breast(137;0.00499)	UPI0001AE674A	271	EVEALTVVPQGQQGLAVFTSESG -> GRGPDSRTPRTAGP SSLHL (in Ref. 1; no nucleotide entry).				SNV	IFI35,missense_variant,p.Val271Ile,ENST00000415816,NM_005533.4;IFI35,missense_variant,p.Val273Ile,ENST00000438323,;VAT1,downstream_gene_variant,,ENST00000355653,NM_006373.3;VAT1,downstream_gene_variant,,ENST00000587173,;VAT1,downstream_gene_variant,,ENST00000420567,;VAT1,downstream_gene_variant,,ENST00000590924,;VAT1,downstream_gene_variant,,ENST00000587062,;VAT1,downstream_gene_variant,,ENST00000587147,;VAT1,downstream_gene_variant,,ENST00000589709,;VAT1,downstream_gene_variant,,ENST00000589828,;IFI35,downstream_gene_variant,,ENST00000536969,;IFI35,downstream_gene_variant,,ENST00000246911,;IFI35,downstream_gene_variant,,ENST00000396722,;IFI35,downstream_gene_variant,,ENST00000546325,;VAT1,downstream_gene_variant,,ENST00000592388,;IFI35,downstream_gene_variant,,ENST00000538473,;IFI35,downstream_gene_variant,,ENST00000534876,;	uc010whj.1	c.817G>A	1034/1241	2	2			c.817G>A						17	SNP	c.(817-819)GTA>ATA	24	24			ovary(1)	1	Broad	interferon-induced protein 35			41166266		0.632	ENSG00000068079	7385	g.chr17:41166266G>A	response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding							175.684446	KEEP	37	28	-1	22	24	37	28	-1	176.721583	22	24	0.612903	1	0	0	0	0	1	0	0	0	--	--		0	A				189	GBM-27-1830-TP	p.V273I	G	CCTGACAGTCGTACCCCAAGG	NM_005533	NP_005524	41166266	P80217	IN35_HUMAN	0		BRCA - Breast invasive adenocarcinoma(366;0.157)	7	1013	+	A	A		Breast(137;0.00499)	Missense_Mutation	271	EVEALTVVPQGQQGLAVFTSESG -> GRGPDSRTPRTAGP SSLHL (in Ref. 1; no nucleotide entry).					
IFI44L	0	broad.mit.edu	GRCh37	1	79094655	79094655	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-81-5910-01	TCGA-81-5910-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370751.5:c.498C>T	p.Asp166=	p.D166=	ENST00000370751	NM_006820.2	166	gaC/gaT	0			1			T	D	uc010oro.1	protein_coding	YES	CCDS687.2			498/1359										0	c.(496-498)GAC>GAT			hmmpanther:PTHR14241,hmmpanther:PTHR14241:SF2	interferon-induced protein 44-like				ENSP00000359787		9-Mar									COSM3401025,COSM3401024	9-Mar	.		ENST00000370751	Transcript				cytoplasm		ENSG00000137959	g.chr1:79094655C>T	17817			LOW								--	--	1																																		IFI44L_uc010orp.1_Translation_Start_Site|IFI44L_uc010orq.1_Intron	1,1	1			p.D166D	NM_006820	NP_006811			1,1	IF44L_HUMAN	IFI44L	HGNC	Q53G44	IF44L_HUMAN			C9JPJ0_HUMAN,B4E019_HUMAN		3	677	+			UPI0000374C64	166					SNV	IFI44L,synonymous_variant,p.=,ENST00000370751,NM_006820.2;IFI44L,synonymous_variant,p.=,ENST00000450498,;IFI44L,5_prime_UTR_variant,,ENST00000342282,;IFI44L,downstream_gene_variant,,ENST00000452835,;IFI44L,non_coding_transcript_exon_variant,,ENST00000476521,;IFI44L,non_coding_transcript_exon_variant,,ENST00000476876,;IFI44L,non_coding_transcript_exon_variant,,ENST00000459784,;IFI44L,non_coding_transcript_exon_variant,,ENST00000462041,;IFI44L,non_coding_transcript_exon_variant,,ENST00000486882,;IFI44L,upstream_gene_variant,,ENST00000474002,;	uc010oro.1	c.498C>T	677/5874	1	1			c.498C>T						1	SNP	c.(496-498)GAC>GAT	12	12				0	Broad	interferon-induced protein 44-like			79094655		0.294	ENSG00000137959	7387	g.chr1:79094655C>T		cytoplasm								61.294622	KEEP	9	14	-1	9	22	9	14	-1	61.584726	9	22	0.416667	1	0	0	0	0	0	0	1	0	--	--		0	T			IFI44L_uc010orp.1_Translation_Start_Site|IFI44L_uc010orq.1_Intron	289	GBM-81-5910-TP	p.D166D	C	ATAACCTAGACGACATAAAGA	NM_006820	NP_006811	79094655	Q53G44	IF44L_HUMAN	0			3	677	+	T	T			Silent	166						
IFIT2	0	broad.mit.edu	GRCh37	10	91066921	91066921	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-26-6174-01	TCGA-26-6174-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371826.3:c.1208A>T	p.Gln403Leu	p.Q403L	ENST00000371826	NM_001547.4	403	cAg/cTg	0			1			T	Q/L	uc009xts.2	protein_coding	YES	CCDS41548.1			1208/1419									ovary(1)|skin(1)	2	c.(1207-1209)CAG>CTG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10271:SF4,hmmpanther:PTHR10271	interferon-induced protein with				ENSP00000360891		2-Feb									COSM3397292	2-Feb	.		ENST00000371826	Transcript			negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding	ENSG00000119922	g.chr10:91066921A>T	5409			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=IFIT2_HUMAN&rb=298&re=472&var=Q403L	NA	getma.org/?cm=var&var=hg19,10,91066921,A,T&fts=all	Q403L	--	--	1																																		LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron	1	1		benign(0.004)	p.Q403L	NM_001547	NP_001538		tolerated(0.3)	1	IFIT2_HUMAN	IFIT2	HGNC	P09913	IFIT2_HUMAN					2	1383	+		Colorectal(252;0.0161)	UPI000012D3E4	403			TPR 6.		SNV	IFIT2,missense_variant,p.Gln403Leu,ENST00000371826,NM_001547.4;LIPA,intron_variant,,ENST00000371837,;LIPA,intron_variant,,ENST00000282673,;LIPA,intron_variant,,ENST00000487618,;LIPA,intron_variant,,ENST00000463623,;	uc009xts.2	c.1208A>T	1377/3489	2	2			c.1208A>T						10	SNP	c.(1207-1209)CAG>CTG	21	21			ovary(1)|skin(1)	2	Broad	interferon-induced protein with			91066921		0.398	ENSG00000119922	7392	g.chr10:91066921A>T	negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding							106.529098	KEEP	17	18	-1	18	26	17	18	-1	106.672587	18	26	0.453333	1	0	0	0	0	1	0	0	0	--	--		0	T			LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron	188	GBM-26-6174-TP	p.Q403L	A	AAAATAAACCAGAAATCAAGG	NM_001547	NP_001538	91066921	P09913	IFIT2_HUMAN	0			2	1383	+	T	T		Colorectal(252;0.0161)	Missense_Mutation	403			TPR 6.			
IFITM1	0	broad.mit.edu	GRCh37	11	314253	314253	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-12-5301-01	TCGA-12-5301-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328221.5:c.83A>G	p.His28Arg	p.H28R	ENST00000328221		28	cAc/cGc	0			1			G	H/R	uc001loy.3	protein_coding		CCDS41584.1			83/378										0	c.(82-84)CAC>CGC			Pfam_domain:PF04505,hmmpanther:PTHR13999,hmmpanther:PTHR13999:SF6	interferon induced transmembrane protein 1				ENSP00000330825		3-Feb	0.000231			0.000116		0.00039	0.00111		rs201402251,COSM1293364	3-Feb	.		ENST00000328221	Transcript			negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity	ENSG00000185885	g.chr11:314253A>G	5412			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=IFM1_HUMAN&rb=20&re=101&var=H28R	NA	getma.org/?cm=var&var=hg19,11,314253,A,G&fts=all	H28R	--	--	1																																			0,1			benign(0.006)	p.H28R	NM_003641	NP_003632		tolerated(1)	0,1	IFM1_HUMAN	IFITM1	HGNC	P13164	IFM1_HUMAN		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)			1	263	+		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	UPI0000228B1B	28			Extracellular (Potential).		SNV	IFITM1,missense_variant,p.His28Arg,ENST00000408968,NM_003641.3;IFITM1,missense_variant,p.His28Arg,ENST00000328221,;IFITM1,missense_variant,p.His28Arg,ENST00000528780,;IFITM2,intron_variant,,ENST00000399815,;IFITM2,downstream_gene_variant,,ENST00000399817,NM_006435.2;IFITM2,downstream_gene_variant,,ENST00000602569,;RP11-326C3.11,upstream_gene_variant,,ENST00000602429,;RP11-326C3.11,upstream_gene_variant,,ENST00000602756,;RP11-326C3.7,upstream_gene_variant,,ENST00000526612,;RP11-326C3.11,upstream_gene_variant,,ENST00000508004,;IFITM1,upstream_gene_variant,,ENST00000525554,;IFITM2,downstream_gene_variant,,ENST00000527146,;	uc001loy.3	c.83A>G	422/844	4	4			c.83A>G						11	SNP	c.(82-84)CAC>CGC	22	22				0	Broad	interferon induced transmembrane protein 1			314253		0.582	ENSG00000185885	7395	g.chr11:314253A>G	negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity							-45.586337	KEEP	3	5	-1	114	108	3	5	-1	8.211144	114	108	0.023474	1	0	0	0	0	1	0	0	0	--	--		0	G				131	GBM-12-5301-TP	p.H28R	A	ATCAACATCCACAGCGAGACC	NM_003641	NP_003632	314253	P13164	IFM1_HUMAN	0		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	1	263	+	G	G		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	Missense_Mutation	28			Extracellular (Potential).			
IFITM1	0	broad.mit.edu	GRCh37	11	314342	314342	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1835-01	TCGA-27-1835-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328221.5:c.172G>A	p.Ala58Thr	p.A58T	ENST00000328221		58	Gcc/Acc	0			1			A	A/T	uc001loy.3	protein_coding		CCDS41584.1			172/378										0	c.(172-174)GCC>ACC			Pfam_domain:PF04505,hmmpanther:PTHR13999,hmmpanther:PTHR13999:SF6,Transmembrane_helices:TMhelix	interferon induced transmembrane protein 1				ENSP00000330825		3-Feb									COSM2157215	3-Feb	.		ENST00000328221	Transcript			negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity	ENSG00000185885	g.chr11:314342G>A	5412			MODERATE		1.425	low	getma.org/?cm=msa&ty=f&p=IFM1_HUMAN&rb=20&re=101&var=A58T	NA	getma.org/?cm=var&var=hg19,11,314342,G,A&fts=all	A58T	--	--	1																																			1			benign(0)	p.A58T	NM_003641	NP_003632		tolerated(0.09)	1	IFM1_HUMAN	IFITM1	HGNC	P13164	IFM1_HUMAN		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)			1	352	+		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	UPI0000228B1B	58			Cytoplasmic (Potential).		SNV	IFITM1,missense_variant,p.Ala58Thr,ENST00000408968,NM_003641.3;IFITM1,missense_variant,p.Ala58Thr,ENST00000328221,;IFITM1,missense_variant,p.Ala58Thr,ENST00000528780,;IFITM2,intron_variant,,ENST00000399815,;IFITM2,downstream_gene_variant,,ENST00000399817,NM_006435.2;IFITM2,downstream_gene_variant,,ENST00000602569,;RP11-326C3.11,upstream_gene_variant,,ENST00000602429,;RP11-326C3.11,upstream_gene_variant,,ENST00000602756,;RP11-326C3.7,upstream_gene_variant,,ENST00000526612,;RP11-326C3.11,upstream_gene_variant,,ENST00000508004,;IFITM1,upstream_gene_variant,,ENST00000525554,;IFITM2,downstream_gene_variant,,ENST00000527146,;	uc001loy.3	c.172G>A	511/844	1	1			c.172G>A						11	SNP	c.(172-174)GCC>ACC	58	58				0	Broad	interferon induced transmembrane protein 1			314342		0.612	ENSG00000185885	7395	g.chr11:314342G>A	negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity							281.193065	KEEP	58	58	-1	70	66	58	58	-1	281.897817	70	66	0.44	1	0	0	0	0	1	0	0	0	--	--		0	A				194	GBM-27-1835-TP	p.A58T	G	CATAGCATTCGCCTACTCCGT	NM_003641	NP_003632	314342	P13164	IFM1_HUMAN	0		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	1	352	+	A	A		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	Missense_Mutation	58			Cytoplasmic (Potential).			
IFITM3	10410	broad.mit.edu	GRCh37	11	320606	320606	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs149004156	by1000genomes	TCGA-06-0184-01	TCGA-06-0184-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399808.4:c.208C>A	p.Pro70Thr	p.P70T	ENST00000399808	NM_021034.2	70	Ccc/Acc	0			1			T	P/T	uc001lpa.2	protein_coding	YES	CCDS41585.1			208/402								p.P70T(1)	central_nervous_system(7)	7	c.(208-210)CCC>ACC			Pfam_domain:PF04505,hmmpanther:PTHR13999,hmmpanther:PTHR13999:SF8,Transmembrane_helices:TMhelix	interferon-induced transmembrane protein 3				ENSP00000382707		2-Jan	0.0511	0.0604	0.0386	0.0105	0.0265	0.0502	0.0547	0.0776	rs199749095,COSM42691	2-Jan	common_variant		ENST00000399808	Transcript	1		response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane		ENSG00000142089	g.chr11:320606G>T	5414			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=IFM3_HUMAN&rb=41&re=122&var=P70T	NA	getma.org/?cm=var&var=hg19,11,320606,G,T&fts=all	P70T	--	--	1																																		uc001loz.2_Intron	0,1	1	23658454	benign(0.001)	p.P70T	NM_021034	NP_066362		tolerated(0.45)	0,1	IFM3_HUMAN	IFITM3	HGNC	Q01628	IFM3_HUMAN		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	E9PS44_HUMAN		1	309	-		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	UPI00000465C0	70			Interaction with SPP1.|Helical; (Potential).		SNV	IFITM3,missense_variant,p.Pro70Thr,ENST00000399808,NM_021034.2;IFITM3,missense_variant,p.Pro49Thr,ENST00000602735,;IFITM3,missense_variant,p.Pro49Thr,ENST00000526811,;RP11-326C3.14,downstream_gene_variant,,ENST00000602809,;RP11-326C3.11,intron_variant,,ENST00000602429,;RP11-326C3.11,intron_variant,,ENST00000602756,;RP11-326C3.11,downstream_gene_variant,,ENST00000508004,;RP11-326C3.10,upstream_gene_variant,,ENST00000534271,;IFITM3,missense_variant,p.Pro27Thr,ENST00000531688,;	uc001lpa.2	c.208C>A	445/808	2	2			c.208C>A						11	SNP	c.(208-210)CCC>ACC	25	25		p.P70T(1)	central_nervous_system(7)	7	Broad	interferon-induced transmembrane protein 3			320606		0.632	ENSG00000142089	7397	g.chr11:320606G>T	response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane								-31.939759	KEEP	2	4	0.333333333	106	78	2	4	0.333333333	8.548239	106	78	0.02994	1	0	0	0	0	1	0	0	0	--	--		0	T			uc001loz.2_Intron	39	GBM-06-0184-TP	p.P70T	G	AGGCAGCAGGGGTTCATGAAG	NM_021034	NP_066362	320606	Q01628	IFM3_HUMAN	0		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	1	309	-	T	T		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	Missense_Mutation	70			Interaction with SPP1.|Helical; (Potential).			
IFITM3	0	broad.mit.edu	GRCh37	11	320606	320606	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs149004156	by1000genomes	TCGA-19-5959-01	TCGA-19-5959-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399808.4:c.208C>A	p.Pro70Thr	p.P70T	ENST00000399808	NM_021034.2	70	Ccc/Acc	0			1			T	P/T	uc001lpa.2	protein_coding	YES	CCDS41585.1			208/402								p.P70T(1)	central_nervous_system(7)	7	c.(208-210)CCC>ACC			Pfam_domain:PF04505,hmmpanther:PTHR13999,hmmpanther:PTHR13999:SF8,Transmembrane_helices:TMhelix	interferon-induced transmembrane protein 3				ENSP00000382707		2-Jan	0.0511	0.0604	0.0386	0.0105	0.0265	0.0502	0.0547	0.0776	rs199749095,COSM42691	2-Jan	common_variant		ENST00000399808	Transcript	1		response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane		ENSG00000142089	g.chr11:320606G>T	5414			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=IFM3_HUMAN&rb=41&re=122&var=P70T	NA	getma.org/?cm=var&var=hg19,11,320606,G,T&fts=all	P70T	--	--	1																																		uc001loz.2_Intron	0,1	1	23658454	benign(0.001)	p.P70T	NM_021034	NP_066362		tolerated(0.45)	0,1	IFM3_HUMAN	IFITM3	HGNC	Q01628	IFM3_HUMAN		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	E9PS44_HUMAN		1	309	-		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	UPI00000465C0	70			Interaction with SPP1.|Helical; (Potential).		SNV	IFITM3,missense_variant,p.Pro70Thr,ENST00000399808,NM_021034.2;IFITM3,missense_variant,p.Pro49Thr,ENST00000602735,;IFITM3,missense_variant,p.Pro49Thr,ENST00000526811,;RP11-326C3.14,downstream_gene_variant,,ENST00000602809,;RP11-326C3.11,intron_variant,,ENST00000602429,;RP11-326C3.11,intron_variant,,ENST00000602756,;RP11-326C3.11,downstream_gene_variant,,ENST00000508004,;RP11-326C3.10,upstream_gene_variant,,ENST00000534271,;IFITM3,missense_variant,p.Pro27Thr,ENST00000531688,;	uc001lpa.2	c.208C>A	445/808	2	2			c.208C>A						11	SNP	c.(208-210)CCC>ACC	25	25		p.P70T(1)	central_nervous_system(7)	7	Broad	interferon-induced transmembrane protein 3			320606		0.632	ENSG00000142089	7397	g.chr11:320606G>T	response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane								-11.785002	KEEP	2	4	0.333333333	51	55	2	4	0.333333333	9.397653	51	55	0.050505	1	0	0	0	0	1	0	0	0	--	--		0	T			uc001loz.2_Intron	177	GBM-19-5959-TP	p.P70T	G	AGGCAGCAGGGGTTCATGAAG	NM_021034	NP_066362	320606	Q01628	IFM3_HUMAN	0		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	1	309	-	T	T		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	Missense_Mutation	70			Interaction with SPP1.|Helical; (Potential).			
IFLTD1	0	broad.mit.edu	GRCh37	12	25699396	25699396	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-41-3915-01	TCGA-41-3915-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282881.6:c.340A>G	p.Lys114Glu	p.K114E	ENST00000282881	NM_152590.3	114	Aag/Gag	0			1			C	K/E	uc001rgs.2	protein_coding		CCDS8704.1			340/1167									ovary(2)|central_nervous_system(1)	3	c.(340-342)AAG>GAG			hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF66	intermediate filament tail domain containing 1				ENSP00000282881		9-Mar									COSM3398628,COSM3398627	9-Mar	.		ENST00000282881	Transcript				intermediate filament	structural molecule activity	ENSG00000152936	g.chr12:25699396T>C	26683			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=ILFT1_HUMAN&rb=1&re=137&var=K114E	NA	getma.org/?cm=var&var=hg19,12,25699396,T,C&fts=all	K114E	--	--	1																																		IFLTD1_uc001rgt.1_Missense_Mutation_p.K17E|IFLTD1_uc010sji.1_Missense_Mutation_p.K135E|IFLTD1_uc010sjj.1_Missense_Mutation_p.K51E|IFLTD1_uc009zjc.2_Missense_Mutation_p.K135E	1,1			benign(0.036)	p.K114E	NM_152590	NP_689803		tolerated(0.14)	1,1	ILFT1_HUMAN	IFLTD1	HGNC	Q8N9Z9	ILFT1_HUMAN			H0YFE3_HUMAN,F5H8G2_HUMAN,F5H719_HUMAN,F5H5I3_HUMAN,F5H3Q3_HUMAN		3	490	-	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)		UPI000013DD03	114					SNV	IFLTD1,missense_variant,p.Lys17Glu,ENST00000539744,NM_001256266.1;IFLTD1,missense_variant,p.Lys114Glu,ENST00000282881,NM_152590.3;IFLTD1,missense_variant,p.Lys135Glu,ENST00000458174,NM_001145728.2;IFLTD1,missense_variant,p.Lys135Glu,ENST00000413632,NM_001145729.1;IFLTD1,missense_variant,p.Lys51Glu,ENST00000445693,NM_001145727.2;IFLTD1,missense_variant,p.Lys89Glu,ENST00000538178,;IFLTD1,missense_variant,p.Lys89Glu,ENST00000540106,;IFLTD1,intron_variant,,ENST00000545543,;IFLTD1,downstream_gene_variant,,ENST00000542224,;	uc001rgs.2	c.340A>G	490/1718	3	3			c.340A>G						12	SNP	c.(340-342)AAG>GAG	60	60			ovary(2)|central_nervous_system(1)	3	Broad	intermediate filament tail domain containing 1			25699396		0.373	ENSG00000152936	7399	g.chr12:25699396T>C		intermediate filament	structural molecule activity							71.418715	KEEP	13	10	-1	30	36	13	10	-1	75.89161	30	36	0.258824	1	0	0	0	0	1	0	0	0	--	--		0	C			IFLTD1_uc001rgt.1_Missense_Mutation_p.K17E|IFLTD1_uc010sji.1_Missense_Mutation_p.K135E|IFLTD1_uc010sjj.1_Missense_Mutation_p.K51E|IFLTD1_uc009zjc.2_Missense_Mutation_p.K135E	256	GBM-41-3915-TP	p.K114E	T	GTAAGTTTCTTTGAATCACCA	NM_152590	NP_689803	25699396	Q8N9Z9	ILFT1_HUMAN	0			3	490	-	C	C	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)		Missense_Mutation	114						
IFNA10	3446	broad.mit.edu	GRCh37	9	21206859	21206859	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0210-01	TCGA-06-0210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357374.2:c.238C>T	p.Leu80Phe	p.L80F	ENST00000357374	NM_002171.1	80	Ctc/Ttc	0			1			A	L/F	uc003zoq.1	protein_coding	YES	CCDS6499.1			238/570										0	c.(238-240)CTC>TTC			Gene3D:1.20.1250.10,Pfam_domain:PF00143,Prints_domain:PR00266,hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF29,SMART_domains:SM00076,Superfamily_domains:SSF47266	interferon, alpha 10 precursor				ENSP00000369566		1-Jan	8.24E-06					1.52E-05			rs773075224,COSM753779	1-Jan	.		ENST00000357374	Transcript			blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	ENSG00000186803	g.chr9:21206859G>A	5418			MODERATE		2.005	medium	getma.org/?cm=msa&ty=f&p=IFN10_HUMAN&rb=26&re=187&var=L80F	getma.org/pdb.php?prot=IFN10_HUMAN&from=26&to=187&var=L80F	getma.org/?cm=var&var=hg19,9,21206859,G,A&fts=all	L80F	--	--	1																																		IFNA14_uc003zoo.1_Intron	0,1	1		benign(0.197)	p.L80F	NM_002171	NP_002162		deleterious(0.05)	0,1	IFN10_HUMAN	IFNA10	HGNC	P01566	IFN10_HUMAN		Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)	Q9UMJ2_HUMAN		1	284	-			UPI0000047765	80					SNV	IFNA10,missense_variant,p.Leu80Phe,ENST00000357374,NM_002171.1;IFNA7,upstream_gene_variant,,ENST00000239347,NM_021057.2;IFNWP18,downstream_gene_variant,,ENST00000437472,;	uc003zoq.1	c.238C>T	284/963	2	2			c.238C>T						9	SNP	c.(238-240)CTC>TTC	32	32				0	Broad	interferon, alpha 10 precursor			21206859		0.483	ENSG00000186803	7401	g.chr9:21206859G>A	blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding							-3.621541	KEEP	1	2	-1	62	51	1	2	-1	7.051955	62	51	0.057692	1	0	0	0	0	1	0	0	0	--	--		0	A			IFNA14_uc003zoo.1_Intron	47	GBM-06-0210-TP	p.L80F	G	ATCTCATGGAGGACAGAGATG	NM_002171	NP_002162	21206859	P01566	IFN10_HUMAN	0		Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)	1	284	-	A	A			Missense_Mutation	80						
IFNA10	3446	broad.mit.edu	GRCh37	9	21206861	21206861	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0210-01	TCGA-06-0210-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357374.2:c.236T>C	p.Val79Ala	p.V79A	ENST00000357374	NM_002171.1	79	gTc/gCc	0			1			G	V/A	uc003zoq.1	protein_coding	YES	CCDS6499.1			236/570										0	c.(235-237)GTC>GCC			Gene3D:1.20.1250.10,Pfam_domain:PF00143,Prints_domain:PR00266,hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF29,SMART_domains:SM00076,Superfamily_domains:SSF47266	interferon, alpha 10 precursor				ENSP00000369566		1-Jan									COSM753778	1-Jan	.		ENST00000357374	Transcript			blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	ENSG00000186803	g.chr9:21206861A>G	5418			MODERATE		1.705	low	getma.org/?cm=msa&ty=f&p=IFN10_HUMAN&rb=26&re=187&var=V79A	getma.org/pdb.php?prot=IFN10_HUMAN&from=26&to=187&var=V79A	getma.org/?cm=var&var=hg19,9,21206861,A,G&fts=all	V79A	--	--	1																																		IFNA14_uc003zoo.1_Intron	1	1		benign(0.241)	p.V79A	NM_002171	NP_002162		deleterious(0.02)	1	IFN10_HUMAN	IFNA10	HGNC	P01566	IFN10_HUMAN		Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)	Q9UMJ2_HUMAN		1	282	-			UPI0000047765	79					SNV	IFNA10,missense_variant,p.Val79Ala,ENST00000357374,NM_002171.1;IFNA7,upstream_gene_variant,,ENST00000239347,NM_021057.2;IFNWP18,downstream_gene_variant,,ENST00000437472,;	uc003zoq.1	c.236T>C	282/963	3	3			c.236T>C						9	SNP	c.(235-237)GTC>GCC	64	64				0	Broad	interferon, alpha 10 precursor			21206861		0.488	ENSG00000186803	7401	g.chr9:21206861A>G	blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding							-4.218685	KEEP	1	2	-1	60	49	1	2	-1	6.460617	60	49	0.057692	1	0	0	0	0	1	0	0	0	--	--		0	G			IFNA14_uc003zoo.1_Intron	47	GBM-06-0210-TP	p.V79A	A	CTCATGGAGGACAGAGATGGC	NM_002171	NP_002162	21206861	P01566	IFN10_HUMAN	0		Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)	1	282	-	G	G			Missense_Mutation	79						
IFNA10	0	broad.mit.edu	GRCh37	9	21206859	21206859	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01	TCGA-14-0790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357374.2:c.238C>T	p.Leu80Phe	p.L80F	ENST00000357374	NM_002171.1	80	Ctc/Ttc	0			1			A	L/F	uc003zoq.1	protein_coding	YES	CCDS6499.1			238/570										0	c.(238-240)CTC>TTC			Gene3D:1.20.1250.10,Pfam_domain:PF00143,Prints_domain:PR00266,hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF29,SMART_domains:SM00076,Superfamily_domains:SSF47266	interferon, alpha 10 precursor				ENSP00000369566		1-Jan	8.24E-06					1.52E-05			rs773075224,COSM753779	1-Jan	.		ENST00000357374	Transcript			blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	ENSG00000186803	g.chr9:21206859G>A	5418			MODERATE		2.005	medium	getma.org/?cm=msa&ty=f&p=IFN10_HUMAN&rb=26&re=187&var=L80F	getma.org/pdb.php?prot=IFN10_HUMAN&from=26&to=187&var=L80F	getma.org/?cm=var&var=hg19,9,21206859,G,A&fts=all	L80F	--	--	1																																		IFNA14_uc003zoo.1_Intron	0,1	1		benign(0.197)	p.L80F	NM_002171	NP_002162		deleterious(0.05)	0,1	IFN10_HUMAN	IFNA10	HGNC	P01566	IFN10_HUMAN		Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)	Q9UMJ2_HUMAN		1	284	-			UPI0000047765	80					SNV	IFNA10,missense_variant,p.Leu80Phe,ENST00000357374,NM_002171.1;IFNA7,upstream_gene_variant,,ENST00000239347,NM_021057.2;IFNWP18,downstream_gene_variant,,ENST00000437472,;	uc003zoq.1	c.238C>T	284/963	2	2			c.238C>T						9	SNP	c.(238-240)CTC>TTC	32	32				0	Broad	interferon, alpha 10 precursor			21206859		0.483	ENSG00000186803	7401	g.chr9:21206859G>A	blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding							-3.757879	KEEP	2	2	-1	73	75	2	2	-1	9.557511	73	75	0.060606	1	0	0	0	0	1	0	0	0	--	--		0	A			IFNA14_uc003zoo.1_Intron	137	GBM-14-0790-TP	p.L80F	G	ATCTCATGGAGGACAGAGATG	NM_002171	NP_002162	21206859	P01566	IFN10_HUMAN	0		Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)	1	284	-	A	A			Missense_Mutation	80						
IFNA10	0	broad.mit.edu	GRCh37	9	21206861	21206861	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-0790-01	TCGA-14-0790-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357374.2:c.236T>C	p.Val79Ala	p.V79A	ENST00000357374	NM_002171.1	79	gTc/gCc	0			1			G	V/A	uc003zoq.1	protein_coding	YES	CCDS6499.1			236/570										0	c.(235-237)GTC>GCC			Gene3D:1.20.1250.10,Pfam_domain:PF00143,Prints_domain:PR00266,hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF29,SMART_domains:SM00076,Superfamily_domains:SSF47266	interferon, alpha 10 precursor				ENSP00000369566		1-Jan									COSM753778	1-Jan	.		ENST00000357374	Transcript			blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	ENSG00000186803	g.chr9:21206861A>G	5418			MODERATE		1.705	low	getma.org/?cm=msa&ty=f&p=IFN10_HUMAN&rb=26&re=187&var=V79A	getma.org/pdb.php?prot=IFN10_HUMAN&from=26&to=187&var=V79A	getma.org/?cm=var&var=hg19,9,21206861,A,G&fts=all	V79A	--	--	1																																		IFNA14_uc003zoo.1_Intron	1	1		benign(0.241)	p.V79A	NM_002171	NP_002162		deleterious(0.02)	1	IFN10_HUMAN	IFNA10	HGNC	P01566	IFN10_HUMAN		Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)	Q9UMJ2_HUMAN		1	282	-			UPI0000047765	79					SNV	IFNA10,missense_variant,p.Val79Ala,ENST00000357374,NM_002171.1;IFNA7,upstream_gene_variant,,ENST00000239347,NM_021057.2;IFNWP18,downstream_gene_variant,,ENST00000437472,;	uc003zoq.1	c.236T>C	282/963	3	3			c.236T>C						9	SNP	c.(235-237)GTC>GCC	64	64				0	Broad	interferon, alpha 10 precursor			21206861		0.488	ENSG00000186803	7401	g.chr9:21206861A>G	blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding							-3.246908	KEEP	2	2	-1	72	74	2	2	-1	10.05771	72	74	0.060606	1	0	0	0	0	1	0	0	0	--	--		0	G			IFNA14_uc003zoo.1_Intron	137	GBM-14-0790-TP	p.V79A	A	CTCATGGAGGACAGAGATGGC	NM_002171	NP_002162	21206861	P01566	IFN10_HUMAN	0		Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)	1	282	-	G	G			Missense_Mutation	79						
IFNA21	0	broad.mit.edu	GRCh37	9	21166247	21166247	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-15-0742-01	TCGA-15-0742-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380225.1:c.365G>C	p.Cys122Ser	p.C122S	ENST00000380225	NM_002175.2	122	tGc/tCc	0			1			G	C/S	uc003zom.2	protein_coding	YES	CCDS6497.1			365/570									central_nervous_system(1)|skin(1)	2	c.(364-366)TGC>TCC			Gene3D:1.20.1250.10,Pfam_domain:PF00143,hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF23,SMART_domains:SM00076,Superfamily_domains:SSF47266	interferon, alpha 21 precursor				ENSP00000369574		1-Jan									COSM3413561	1-Jan	.		ENST00000380225	Transcript			blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	ENSG00000137080	g.chr9:21166247C>G	5424			MODERATE		3.35	medium	getma.org/?cm=msa&ty=f&p=IFN21_HUMAN&rb=26&re=187&var=C122S	getma.org/pdb.php?prot=IFN21_HUMAN&from=26&to=187&var=C122S	getma.org/?cm=var&var=hg19,9,21166247,C,G&fts=all	C122S	--	--	1																																			1	1		probably_damaging(1)	p.C122S	NM_002175	NP_002166		deleterious(0)	1	IFN21_HUMAN	IFNA21	HGNC	P01568	IFN21_HUMAN		GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	Q9UMJ2_HUMAN		1	413	-			UPI000002C35A	122					SNV	IFNA21,missense_variant,p.Cys122Ser,ENST00000380225,NM_002175.2;	uc003zom.2	c.365G>C	413/1024	3	3			c.365G>C						9	SNP	c.(364-366)TGC>TCC	51	51			central_nervous_system(1)|skin(1)	2	Broad	interferon, alpha 21 precursor			21166247		0.463	ENSG00000137080	7407	g.chr9:21166247C>G	blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding							685.269348	KEEP	100	91	-1	5	10	100	91	-1	720.477452	5	10	0.925926	1	0	0	0	0	1	0	0	0	--	--		0	G				153	GBM-15-0742-TP	p.C122S	C	CTGTATCACGCAGGCTTCCAG	NM_002175	NP_002166	21166247	P01568	IFN21_HUMAN	0		GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	413	-	G	G			Missense_Mutation	122						
IFNB1	0	broad.mit.edu	GRCh37	9	21077338	21077338	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2619-01	TCGA-19-2619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380232.2:c.531C>T	p.Phe177=	p.F177=	ENST00000380232	NM_002176.2	177	ttC/ttT	0			1			A	F	uc003zok.2	protein_coding	YES	CCDS6495.1			531/564									ovary(1)|breast(1)|kidney(1)	3	c.(529-531)TTC>TTT			Superfamily_domains:SSF47266,Pfam_domain:PF00143,Gene3D:1.20.1250.10,hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF7	interferon, beta 1, fibroblast precursor	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)			ENSP00000369581		1-Jan									COSM3413556	1-Jan	.		ENST00000380232	Transcript			activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity	ENSG00000171855	g.chr9:21077338G>A	5434			LOW								--	--	1																																			1	1			p.F177F	NM_002176	NP_002167			1	IFNB_HUMAN	IFNB1	HGNC	P01574	IFNB_HUMAN		GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Q5VWC9_HUMAN,B5BUQ5_HUMAN		1	606	-			UPI000004775D	177					SNV	IFNB1,synonymous_variant,p.=,ENST00000380232,NM_002176.2;	uc003zok.2	c.531C>T	606/840	1	1			c.531C>T						9	SNP	c.(529-531)TTC>TTT	49	49			ovary(1)|breast(1)|kidney(1)	3	Broad	interferon, beta 1, fibroblast precursor		Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	21077338		0.453	ENSG00000171855	7415	g.chr9:21077338G>A	activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			45			45	5.576542	KEEP	2	2	-1	23	8	2	2	-1	9.732857	23	8	0.129032	1	0	0	0	0	0	0	1	0	--	--		0	A				161	GBM-19-2619-TP	p.F177F	G	GTCTGTTAATGAAGTAAAAGT	NM_002176	NP_002167	21077338	P01574	IFNB_HUMAN	0		GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	1	606	-	A	A			Silent	177						
IFNB1	0	broad.mit.edu	GRCh37	9	21077465	21077465	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-27-1834-01	TCGA-27-1834-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380232.2:c.404G>T	p.Gly135Val	p.G135V	ENST00000380232	NM_002176.2	135	gGa/gTa	0			1			A	G/V	uc003zok.2	protein_coding	YES	CCDS6495.1			404/564									ovary(1)|breast(1)|kidney(1)	3	c.(403-405)GGA>GTA			Superfamily_domains:SSF47266,SMART_domains:SM00076,Pfam_domain:PF00143,Gene3D:1.20.1250.10,hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF7	interferon, beta 1, fibroblast precursor	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)			ENSP00000369581		1-Jan									COSM3413557	1-Jan	.		ENST00000380232	Transcript			activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity	ENSG00000171855	g.chr9:21077465C>A	5434			MODERATE		2.05	medium	getma.org/?cm=msa&ty=f&p=IFNB_HUMAN&rb=27&re=187&var=G135V	getma.org/pdb.php?prot=IFNB_HUMAN&from=27&to=187&var=G135V	getma.org/?cm=var&var=hg19,9,21077465,C,A&fts=all	G135V	--	--	1																																			1	1		benign(0.02)	p.G135V	NM_002176	NP_002167		tolerated(0.3)	1	IFNB_HUMAN	IFNB1	HGNC	P01574	IFNB_HUMAN		GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Q5VWC9_HUMAN,B5BUQ5_HUMAN		1	479	-			UPI000004775D	135					SNV	IFNB1,missense_variant,p.Gly135Val,ENST00000380232,NM_002176.2;	uc003zok.2	c.404G>T	479/840	1	1			c.404G>T						9	SNP	c.(403-405)GGA>GTA	50	50			ovary(1)|breast(1)|kidney(1)	3	Broad	interferon, beta 1, fibroblast precursor		Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	21077465		0.443	ENSG00000171855	7415	g.chr9:21077465C>A	activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			45			45	861.664858	KEEP	157	155	0.496794872	60	57	157	155	0.496794872	879.150292	60	57	0.72679	1	0	0	0	0	1	0	0	0	--	--		0	A				193	GBM-27-1834-TP	p.G135V	C	CATGAGTTTTCCCCTGGTGAA	NM_002176	NP_002167	21077465	P01574	IFNB_HUMAN	0		GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	1	479	-	A	A			Missense_Mutation	135						
IFNE	0	broad.mit.edu	GRCh37	9	21481272	21481272	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01	TCGA-27-1831-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000448696.3:c.422G>A	p.Arg141Lys	p.R141K	ENST00000448696	NM_176891.4	141	aGa/aAa	0			1			T	R/K	uc003zpg.2	protein_coding	YES	CCDS34997.1			422/627										0	c.(421-423)AGA>AAA			hmmpanther:PTHR11691:SF8,hmmpanther:PTHR11691,Gene3D:1.20.1250.10,Pfam_domain:PF00143,SMART_domains:SM00076,Superfamily_domains:SSF47266	interferon, epsilon precursor				ENSP00000418018		1-Jan									COSM3413562	1-Jan	.		ENST00000448696	Transcript			defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding	ENSG00000184995	g.chr9:21481272C>T	18163			MODERATE		1.535	low	getma.org/?cm=msa&ty=f&p=IFNE_HUMAN&rb=27&re=188&var=R141K	getma.org/pdb.php?prot=IFNE_HUMAN&from=27&to=188&var=R141K	getma.org/?cm=var&var=hg19,9,21481272,C,T&fts=all	R141K	--	--	1																																		LOC554202_uc003zpe.2_Intron|LOC554202_uc003zpf.2_Intron	1	1		benign(0.354)	p.R141K	NM_176891	NP_795372		tolerated(0.12)	1	IFNE_HUMAN	IFNE	HGNC	Q86WN2	IFNE_HUMAN					1	1041	-			UPI000000D8A7	141					SNV	IFNE,missense_variant,p.Arg141Lys,ENST00000448696,NM_176891.4;MIR31HG,intron_variant,,ENST00000304425,;	uc003zpg.2	c.422G>A	1041/1472	2	2			c.422G>A						9	SNP	c.(421-423)AGA>AAA	47	47				0	Broad	interferon, epsilon precursor			21481272		0.433	ENSG00000184995	7416	g.chr9:21481272C>T	defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding							445.476398	KEEP	70	75	-1	54	85	70	75	-1	445.616315	54	85	0.524904	1	0	0	0	0	1	0	0	0	--	--		0	T			LOC554202_uc003zpe.2_Intron|LOC554202_uc003zpf.2_Intron	190	GBM-27-1831-TP	p.R141K	C	AACTTGTAATCTAAGGTTATC	NM_176891	NP_795372	21481272	Q86WN2	IFNE_HUMAN	0			1	1041	-	T	T			Missense_Mutation	141						
IFNG	3458	broad.mit.edu	GRCh37	12	68551725	68551725	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0876-01	TCGA-06-0876-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000229135.3:c.334C>T	p.Arg112Ter	p.R112*	ENST00000229135	NM_000619.2	112	Cga/Tga	0			1			A	R/*	uc001stw.1	protein_coding	YES	CCDS8980.1			334/501										0	c.(334-336)CGA>TGA			hmmpanther:PTHR11419,Pfam_domain:PF00714,Gene3D:1.20.1250.10,PIRSF_domain:PIRSF001936,Superfamily_domains:SSF47266	interferon, gamma precursor	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)			ENSP00000229135		4-Mar									COSM2152106	4-Mar	.		ENST00000229135	Transcript	1		cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding	ENSG00000111537	g.chr12:68551725G>A	5438			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,12,68551725,G,A&fts=all	R112*	--	--	1																																			1	1			p.R112*	NM_000619	NP_000610			1	IFNG_HUMAN	IFNG	HGNC	P01579	IFNG_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	A1Z2M2_HUMAN		3	460	-			UPI000002C7C8	112					SNV	IFNG,stop_gained,p.Arg112Ter,ENST00000229135,NM_000619.2;IFNG-AS1,intron_variant,,ENST00000536914,;	uc001stw.1	c.334C>T	466/1218	5	1			c.334C>T						12	SNP	c.(334-336)CGA>TGA	62	62				0	Broad	interferon, gamma precursor		Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	68551725		0.358	ENSG00000111537	7417	g.chr12:68551725G>A	cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding			63			63	217.53821	KEEP	49	37	-1	94	63	49	37	-1	221.170534	94	63	0.36019	1	0	0	0	0	0	1	0	0	--	--		0	A				72	GBM-06-0876-TP	p.R112*	G	AAGTCATCTCGTTTCTTTTTG	NM_000619	NP_000610	68551725	P01579	IFNG_HUMAN	0	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	3	460	-	A	A			Nonsense_Mutation	112						
IFNG	3458	broad.mit.edu	GRCh37	12	68552011	68552011	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-5856-01	TCGA-06-5856-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000229135.3:c.143A>G	p.Asn48Ser	p.N48S	ENST00000229135	NM_000619.2	48	aAt/aGt	0			1			C	N/S	uc001stw.1	protein_coding	YES	CCDS8980.1			143/501										0	c.(142-144)AAT>AGT			hmmpanther:PTHR11419,Pfam_domain:PF00714,Gene3D:1.20.1250.10,PIRSF_domain:PIRSF001936,Superfamily_domains:SSF47266	interferon, gamma precursor	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)			ENSP00000229135		4-Feb									COSM3399014	4-Feb	.		ENST00000229135	Transcript	1		cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding	ENSG00000111537	g.chr12:68552011T>C	5438			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=IFNG_HUMAN&rb=15&re=152&var=N48S	getma.org/pdb.php?prot=IFNG_HUMAN&from=15&to=152&var=N48S	getma.org/?cm=var&var=hg19,12,68552011,T,C&fts=all	N48S	--	--	1																																			1	1		benign(0.015)	p.N48S	NM_000619	NP_000610		tolerated(0.06)	1	IFNG_HUMAN	IFNG	HGNC	P01579	IFNG_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	A1Z2M2_HUMAN		2	269	-			UPI000002C7C8	48					SNV	IFNG,missense_variant,p.Asn48Ser,ENST00000229135,NM_000619.2;IFNG-AS1,intron_variant,,ENST00000536914,;	uc001stw.1	c.143A>G	275/1218	3	3			c.143A>G						12	SNP	c.(142-144)AAT>AGT	53	53				0	Broad	interferon, gamma precursor		Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	68552011		0.308	ENSG00000111537	7417	g.chr12:68552011T>C	cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding		p.N48S(PF382-Tumor)	63		p.N48S(PF382-Tumor)	63	1426.07815	KEEP	208	234	-1	51	79	208	234	-1	1459.376378	51	79	0.768924	1	0	0	0	0	1	0	0	0	--	--		0	C				101	GBM-06-5856-TP	p.N48S	T	AAGAGTTCCATTATCCGCTAC	NM_000619	NP_000610	68552011	P01579	IFNG_HUMAN	0	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	2	269	-	C	C			Missense_Mutation	48						
IFNGR2	0	broad.mit.edu	GRCh37	21	34805024	34805024	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-2631-01	TCGA-19-2631-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290219.6:c.725C>G	p.Ser242Cys	p.S242C	ENST00000290219	NM_005534.3	242	tCc/tGc	0			1			G	S/C	uc002yrp.3	protein_coding	YES	CCDS33544.1			725/1014										0	c.(724-726)TCC>TGC			hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF9	interferon gamma receptor 2 precursor	Interferon gamma-1b(DB00033)			ENSP00000290219		7-Jun									COSM3405363	7-Jun	.		ENST00000290219	Transcript	1		regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	ENSG00000159128	g.chr21:34805024C>G	5440			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=INGR2_HUMAN&rb=239&re=337&var=S242C	NA	getma.org/?cm=var&var=hg19,21,34805024,C,G&fts=all	S242C	--	--	1																																		IFNGR2_uc002yrq.3_Missense_Mutation_p.S261C|IFNGR2_uc010gma.2_Missense_Mutation_p.S163C|IFNGR2_uc002yrr.3_Missense_Mutation_p.S163C|TMEM50B_uc002yrs.1_RNA	1	1		possibly_damaging(0.907)	p.S242C	NM_005534	NP_005525		deleterious(0.02)	1	INGR2_HUMAN	IFNGR2	HGNC	P38484	INGR2_HUMAN			B5MCZ0_HUMAN,A8K881_HUMAN,A1Z2N6_HUMAN		6	1373	+			UPI00001514B0	242			Extracellular (Potential).		SNV	IFNGR2,missense_variant,p.Ser242Cys,ENST00000290219,NM_005534.3;IFNGR2,missense_variant,p.Ser261Cys,ENST00000381995,;IFNGR2,missense_variant,p.Ser163Cys,ENST00000405436,;IFNGR2,missense_variant,p.Ser8Cys,ENST00000421802,;TMEM50B,non_coding_transcript_exon_variant,,ENST00000484377,;TMEM50B,downstream_gene_variant,,ENST00000468874,;TMEM50B,downstream_gene_variant,,ENST00000470682,;TMEM50B,3_prime_UTR_variant,,ENST00000420455,;IFNGR2,3_prime_UTR_variant,,ENST00000545369,;IFNGR2,downstream_gene_variant,,ENST00000439213,;	uc002yrp.3	c.725C>G	1373/2221	4	4			c.725C>G						21	SNP	c.(724-726)TCC>TGC	26	26				0	Broad	interferon gamma receptor 2 precursor		Interferon gamma-1b(DB00033)	34805024		0.468	ENSG00000159128	7419	g.chr21:34805024C>G	regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity							-57.369195	KEEP	0	3	-1	141	146	0	3	-1	6.656831	141	146	0.012712	1	0	0	0	0	1	0	0	0	--	--		0	G			IFNGR2_uc002yrq.3_Missense_Mutation_p.S261C|IFNGR2_uc010gma.2_Missense_Mutation_p.S163C|IFNGR2_uc002yrr.3_Missense_Mutation_p.S163C|TMEM50B_uc002yrs.1_RNA	167	GBM-19-2631-TP	p.S242C	C	TTTTTAGCCTCCACTGAGCTT	NM_005534	NP_005525	34805024	P38484	INGR2_HUMAN	0			6	1373	+	G	G			Missense_Mutation	242			Extracellular (Potential).			
IFNGR2	0	broad.mit.edu	GRCh37	21	34799266	34799266	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-2502-01	TCGA-28-2502-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290219.6:c.488T>C	p.Phe163Ser	p.F163S	ENST00000290219	NM_005534.3	163	tTt/tCt	0			1			C	F/S	uc002yrp.3	protein_coding	YES	CCDS33544.1			488/1014										0	c.(487-489)TTT>TCT			PROSITE_profiles:PS50853,hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF9,Gene3D:2.60.40.10,Pfam_domain:PF09294,Superfamily_domains:SSF49265	interferon gamma receptor 2 precursor	Interferon gamma-1b(DB00033)			ENSP00000290219		7-Apr									COSM3405362	7-Apr	.		ENST00000290219	Transcript	1		regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	ENSG00000159128	g.chr21:34799266T>C	5440			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=INGR2_HUMAN&rb=138&re=238&var=F163S	NA	getma.org/?cm=var&var=hg19,21,34799266,T,C&fts=all	F163S	--	--	1																																		IFNGR2_uc002yrq.3_Missense_Mutation_p.F182S|IFNGR2_uc010gma.2_Missense_Mutation_p.F84S|IFNGR2_uc002yrr.3_Missense_Mutation_p.F84S	1	1		probably_damaging(1)	p.F163S	NM_005534	NP_005525		deleterious(0)	1	INGR2_HUMAN	IFNGR2	HGNC	P38484	INGR2_HUMAN			B5MCZ0_HUMAN,A8K881_HUMAN,A1Z2N6_HUMAN		4	1136	+			UPI00001514B0	163			Extracellular (Potential).|Fibronectin type-III 2.		SNV	IFNGR2,missense_variant,p.Phe163Ser,ENST00000290219,NM_005534.3;IFNGR2,missense_variant,p.Phe182Ser,ENST00000381995,;IFNGR2,missense_variant,p.Phe84Ser,ENST00000405436,;IFNGR2,3_prime_UTR_variant,,ENST00000545369,;IFNGR2,3_prime_UTR_variant,,ENST00000439213,;	uc002yrp.3	c.488T>C	1136/2221	3	3			c.488T>C						21	SNP	c.(487-489)TTT>TCT	13	13				0	Broad	interferon gamma receptor 2 precursor		Interferon gamma-1b(DB00033)	34799266		0.443	ENSG00000159128	7419	g.chr21:34799266T>C	regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity							404.678766	KEEP	68	87	-1	280	273	68	87	-1	446.982238	280	273	0.224959	1	0	0	0	0	1	0	0	0	--	--		0	C			IFNGR2_uc002yrq.3_Missense_Mutation_p.F182S|IFNGR2_uc010gma.2_Missense_Mutation_p.F84S|IFNGR2_uc002yrr.3_Missense_Mutation_p.F84S	210	GBM-28-2502-TP	p.F163S	T	TCCTCTCCCTTTGACATCGCT	NM_005534	NP_005525	34799266	P38484	INGR2_HUMAN	0			4	1136	+	C	C			Missense_Mutation	163			Extracellular (Potential).|Fibronectin type-III 2.			
IFNGR2	3460		GRCh37	21	34809223	34809223	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000290219.6:c.968T>C	p.Ile323Thr	p.I323T	ENST00000290219	NM_005534.3	323	aTc/aCc	0																																																																																																																																																																																																																																												
IFNL3	0	broad.mit.edu	GRCh37	19	39734655	39734655	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01	TCGA-19-5955-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000413851.2:c.401G>A	p.Arg134Gln	p.R134Q	ENST00000413851	NM_172139.2	134	cGg/cAg	0		T:0	1	T:0		T	R/Q	uc010xut.1	protein_coding	YES	CCDS12530.1			401/591										0	c.(400-402)CGG>CAG			Pfam_domain:PF15177,hmmpanther:PTHR31943,hmmpanther:PTHR31943:SF3	interleukin 28B		T:0		ENSP00000409000	T:0	5-Mar	0.000115							0.000855	rs540120208,COSM3404213	5-Mar	common_variant		ENST00000413851	Transcript	1	T:0.0004	response to virus	extracellular space	cytokine activity	ENSG00000197110	g.chr19:39734655C>T	18365			MODERATE		-1.1	neutral	getma.org/?cm=msa&ty=f&p=IL28B_HUMAN&rb=15&re=194&var=R134Q	getma.org/pdb.php?prot=IL28B_HUMAN&from=15&to=194&var=R134Q	getma.org/?cm=var&var=hg19,19,39734655,C,T&fts=all	R134Q	--	--	1																																		IL28B_uc010xuu.1_Missense_Mutation_p.R134Q	0,1	1		benign(0.002)	p.R134Q	NM_172139	NP_742151	T:0.002	tolerated(1)	0,1	IFNL3_HUMAN	IFNL3	HGNC	Q8IZI9	IL28B_HUMAN	Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)				3	405	-	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		UPI0000161897	134					SNV	IFNL3,missense_variant,p.Arg134Gln,ENST00000413851,NM_172139.2;IFNL4,downstream_gene_variant,,ENST00000606380,NM_001276254.2;	uc010xut.1	c.401G>A	440/656	2	2			c.401G>A						19	SNP	c.(400-402)CGG>CAG	36	36				0	Broad	interleukin 28B			39734655		0.667	ENSG00000197110	7550	g.chr19:39734655C>T	response to virus	extracellular space	cytokine activity							2.176545	KEEP	4	5	-1	49	46	4	5	-1	18.545318	49	46	0.085106	1	0	0	0	0	1	0	0	0	--	--		0	T			IL28B_uc010xuu.1_Missense_Mutation_p.R134Q	175	GBM-19-5955-TP	p.R134Q	C	CACACAGGCCCGGAGCTGGGA	NM_172139	NP_742151	39734655	Q8IZI9	IL28B_HUMAN	0	Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		3	405	-	T	T	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		Missense_Mutation	134						
IFNLR1	0	broad.mit.edu	GRCh37	1	24507335	24507335	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01	TCGA-12-0615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327535.1:c.68G>A	p.Arg23His	p.R23H	ENST00000327535	NM_170743.3	23	cGt/cAt	0		T:0.0008	1	T:0		T	R/H	uc001bis.2	protein_coding	YES	CCDS248.1			68/1563										0	c.(67-69)CGT>CAT			hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF46,Pfam_domain:PF01108,Gene3D:2.60.40.10	interleukin 28 receptor, alpha isoform 1		T:0.001		ENSP00000327824	T:0.001	7-Feb	9.88E-05	9.96E-05		0.000706		6.10E-05		6.23E-05	rs200375008,COSM2153516	7-Feb	common_variant		ENST00000327535	Transcript		T:0.0006	cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host	interleukin-28 receptor complex	protein binding|receptor activity	ENSG00000185436	g.chr1:24507335C>T	18584			MODERATE		0.6	neutral	getma.org/?cm=msa&ty=f&p=I28RA_HUMAN&rb=7&re=111&var=R23H	getma.org/pdb.php?prot=I28RA_HUMAN&from=7&to=111&var=R23H	getma.org/?cm=var&var=hg19,1,24507335,C,T&fts=all	R23H	--	--	1																																		IL28RA_uc001bir.2_Missense_Mutation_p.R23H|IL28RA_uc001bit.2_Missense_Mutation_p.R23H|IL28RA_uc001biu.2_Intron|IL28RA_uc001biv.2_Missense_Mutation_p.R23H	0,1	1		benign(0.006)	p.R23H	NM_170743	NP_734464	T:0	tolerated(0.74)	0,1	INLR1_HUMAN	IFNLR1	HGNC	Q8IU57	I28RA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185)	A4QPA4_HUMAN		2	81	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	UPI000004D3FC	23			Extracellular (Potential).|Fibronectin type-III.		SNV	IFNLR1,missense_variant,p.Arg23His,ENST00000327535,NM_170743.3,NM_173064.2;IFNLR1,missense_variant,p.Arg23His,ENST00000374421,;IFNLR1,missense_variant,p.Arg23His,ENST00000327575,NM_173065.2;IFNLR1,missense_variant,p.Arg23His,ENST00000374418,;IFNLR1,5_prime_UTR_variant,,ENST00000374419,;	uc001bis.2	c.68G>A	81/4549	2	2			c.68G>A						1	SNP	c.(67-69)CGT>CAT	36	36				0	Broad	interleukin 28 receptor, alpha isoform 1			24507335		0.612	ENSG00000185436	7551	g.chr1:24507335C>T	cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host	interleukin-28 receptor complex	protein binding|receptor activity							99.392628	KEEP	21	15	-1	23	29	21	15	-1	99.869967	23	29	0.415584	1	0	0	0	0	1	0	0	0	--	--		0	T			IL28RA_uc001bir.2_Missense_Mutation_p.R23H|IL28RA_uc001bit.2_Missense_Mutation_p.R23H|IL28RA_uc001biu.2_Intron|IL28RA_uc001biv.2_Missense_Mutation_p.R23H	117	GBM-12-0615-TP	p.R23H	C	AGGGGCCAGACGGGGCCTCCC	NM_170743	NP_734464	24507335	Q8IU57	I28RA_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185)	2	81	-	T	T		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	23			Extracellular (Potential).|Fibronectin type-III.			
IFNW1	0	broad.mit.edu	GRCh37	9	21141108	21141108	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-27-2521-01	TCGA-27-2521-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380229.2:c.462G>C	p.Leu154=	p.L154=	ENST00000380229	NM_002177.1	154	ctG/ctC	0			1			G	L	uc003zol.1	protein_coding	YES	CCDS6496.1			462/588										0	c.(460-462)CTG>CTC			Prints_domain:PR00266,Superfamily_domains:SSF47266,SMART_domains:SM00076,Pfam_domain:PF00143,Gene3D:1.20.1250.10,PROSITE_patterns:PS00252,hmmpanther:PTHR11691	interferon, omega 1 precursor				ENSP00000369578		1-Jan									COSM3413559	1-Jan	.		ENST00000380229	Transcript			cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding	ENSG00000177047	g.chr9:21141108C>G	5448			LOW								--	--	1																																			1	1			p.L154L	NM_002177	NP_002168			1	IFNW1_HUMAN	IFNW1	HGNC	P05000	IFNW1_HUMAN		GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)			1	1037	-			UPI000002C6DC	154					SNV	IFNW1,synonymous_variant,p.=,ENST00000380229,NM_002177.1;	uc003zol.1	c.462G>C	1037/1514	3	3			c.462G>C						9	SNP	c.(460-462)CTG>CTC	52	52				0	Broad	interferon, omega 1 precursor			21141108		0.473	ENSG00000177047	7421	g.chr9:21141108C>G	cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding							150.847681	KEEP	18	22	-1	6	14	18	22	-1	152.568154	6	14	0.684211	1	0	0	0	0	0	0	1	0	--	--		0	G				200	GBM-27-2521-TP	p.L154L	C	TCTTCTCTTTCAGGTAGACAC	NM_002177	NP_002168	21141108	P05000	IFNW1_HUMAN	0		GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	1037	-	G	G			Silent	154						
IFRD1	3475	broad.mit.edu	GRCh37	7	112097053	112097053	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-06-5415-01	TCGA-06-5415-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000403825.3:c.370del	p.Met124Ter	p.M124*	ENST00000403825	NM_001550.3	123	agA/ag	0			1			-	R/X	uc003vgh.2	protein_coding		CCDS34736.1			369/1356									kidney(1)|central_nervous_system(1)	2	c.(367-369)AGAfs			Superfamily_domains:SSF48371,Pfam_domain:PF05004,Gene3D:1.25.10.10,hmmpanther:PTHR12354:SF6,hmmpanther:PTHR12354	interferon-related developmental regulator 1				ENSP00000005558		13-May									COSM2153235	13-May	.		ENST00000005558	Transcript	1		multicellular organismal development|myoblast cell fate determination		binding	ENSG00000006652	g.chr7:112097053delA	5456	1		HIGH								--	--	1																																		IFRD1_uc011kmn.1_Frame_Shift_Del_p.R73fs|IFRD1_uc003vgi.2_Frame_Shift_Del_p.R123fs|IFRD1_uc003vgj.2_Frame_Shift_Del_p.R123fs|IFRD1_uc011kmo.1_RNA|IFRD1_uc011kmp.1_Frame_Shift_Del_p.R73fs	1				p.R123fs	NM_001007245	NP_001007246			1	IFRD1_HUMAN	IFRD1	HGNC	O00458	IFRD1_HUMAN			A4D0U1_HUMAN,Q75MS4_HUMAN,Q75M99_HUMAN,Q75M98_HUMAN,E9PMY4_HUMAN,C9JNM6_HUMAN,C9JLG5_HUMAN,C9JFH1_HUMAN,C9J7U6_HUMAN,C9J311_HUMAN,B7Z4L0_HUMAN		5	812	+			UPI00000304DC	123					deletion	IFRD1,frameshift_variant,p.Met124Ter,ENST00000403825,NM_001550.3;IFRD1,frameshift_variant,p.Met124Ter,ENST00000429071,;IFRD1,frameshift_variant,p.Met124Ter,ENST00000005558,NM_001007245.2,NM_001197080.1;IFRD1,frameshift_variant,p.Met74Ter,ENST00000535603,NM_001197079.1;IFRD1,frameshift_variant,p.Met74Ter,ENST00000440625,;IFRD1,frameshift_variant,p.Met74Ter,ENST00000476927,;IFRD1,upstream_gene_variant,,ENST00000421296,;IFRD1,downstream_gene_variant,,ENST00000445335,;IFRD1,downstream_gene_variant,,ENST00000443101,;IFRD1,non_coding_transcript_exon_variant,,ENST00000466459,;IFRD1,upstream_gene_variant,,ENST00000486688,;	uc003vgh.2	c.369delA	839/1834	5	5			c.369delA						7	DEL	c.(367-369)AGAfs	49	49			kidney(1)|central_nervous_system(1)	2	Broad	interferon-related developmental regulator 1			112097053		0.368	ENSG00000006652	7422	g.chr7:112097053delA	multicellular organismal development|myoblast cell fate determination		binding																				0.26	1	1	0	1	0	0	0	0	0	--	--		0	-			IFRD1_uc011kmn.1_Frame_Shift_Del_p.R73fs|IFRD1_uc003vgi.2_Frame_Shift_Del_p.R123fs|IFRD1_uc003vgj.2_Frame_Shift_Del_p.R123fs|IFRD1_uc011kmo.1_RNA|IFRD1_uc011kmp.1_Frame_Shift_Del_p.R73fs	98	GBM-06-5415-TP	p.R123fs	A	TGGAAAGGAGAATGACTTTAA	NM_001007245	NP_001007246	112097053	O00458	IFRD1_HUMAN	0			5	812	+	-	-			Frame_Shift_Del	123						
IFT122	55764	broad.mit.edu	GRCh37	3	129195512	129195512	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296266.3:c.1168G>A	p.Gly390Ser	p.G390S	ENST00000296266	NM_052985.3	390	Ggc/Agc	0			1			A	G/S	uc003emm.2	protein_coding		CCDS3061.1			1015/3726									ovary(1)|skin(1)	2	c.(1015-1017)GGC>AGC			Superfamily_domains:SSF50978,SMART_domains:SM00320,Pfam_domain:PF00400,Gene3D:2.130.10.10,hmmpanther:PTHR12764:SF4,hmmpanther:PTHR12764	WD repeat domain 10 isoform 2				ENSP00000324005		30-Nov	8.24E-06							6.06E-05	rs749146926,COSM3408216	30-Nov	.		ENST00000348417	Transcript	1		camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		ENSG00000163913	g.chr3:129195512G>A	13556			MODERATE		3.03	medium	getma.org/?cm=msa&ty=f&p=IF122_HUMAN&rb=311&re=349&var=G339S	NA	getma.org/?cm=var&var=hg19,3,129195512,G,A&fts=all	G339S	--	--	1																																		IFT122_uc003eml.2_Missense_Mutation_p.G390S|IFT122_uc003emn.2_Missense_Mutation_p.G280S|IFT122_uc003emo.2_Missense_Mutation_p.G228S|IFT122_uc003emp.2_Missense_Mutation_p.G189S|IFT122_uc010htc.2_Missense_Mutation_p.G331S|IFT122_uc011bky.1_Missense_Mutation_p.G130S|IFT122_uc003emq.2_Missense_Mutation_p.G179S|IFT122_uc003emr.2_Missense_Mutation_p.G130S|IFT122_uc011bla.1_Missense_Mutation_p.G130S|IFT122_uc011bkx.1_Missense_Mutation_p.G179S|IFT122_uc011bkz.1_RNA	0,1			probably_damaging(0.982)	p.G339S	NM_052989	NP_443715		deleterious(0.02)	0,1	IF122_HUMAN	IFT122	HGNC	Q9HBG6	IF122_HUMAN			Q7L8K0_HUMAN,H7C3C0_HUMAN		11	1221	+			UPI000006E33C	339			WD 6.		SNV	IFT122,missense_variant,p.Gly390Ser,ENST00000296266,NM_052985.3;IFT122,missense_variant,p.Gly189Ser,ENST00000431818,NM_001280545.1;IFT122,missense_variant,p.Gly339Ser,ENST00000348417,NM_052989.2;IFT122,missense_variant,p.Gly280Ser,ENST00000347300,NM_018262.3;IFT122,missense_variant,p.Gly331Ser,ENST00000507564,NM_001280541.1;IFT122,missense_variant,p.Gly228Ser,ENST00000349441,NM_052990.2;IFT122,missense_variant,p.Gly130Ser,ENST00000440957,NM_001280546.1;IFT122,missense_variant,p.Gly233Ser,ENST00000504021,;IFT122,missense_variant,p.Gly166Ser,ENST00000515783,;IFT122,missense_variant,p.Gly218Ser,ENST00000512157,;IFT122,upstream_gene_variant,,ENST00000509522,;IFT122,downstream_gene_variant,,ENST00000511498,;IFT122,downstream_gene_variant,,ENST00000509815,;IFT122,3_prime_UTR_variant,,ENST00000512220,;IFT122,non_coding_transcript_exon_variant,,ENST00000506507,;IFT122,non_coding_transcript_exon_variant,,ENST00000508654,;IFT122,upstream_gene_variant,,ENST00000513891,;IFT122,upstream_gene_variant,,ENST00000448668,;IFT122,upstream_gene_variant,,ENST00000512814,;	uc003emm.2	c.1015G>A	1092/3877	1	1			c.1015G>A						3	SNP	c.(1015-1017)GGC>AGC	51	51			ovary(1)|skin(1)	2	Broad	WD repeat domain 10 isoform 2			129195512		0.527	ENSG00000163913	7424	g.chr3:129195512G>A	camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium								232.943808	KEEP	37	46	-1	26	27	37	46	-1	233.972672	26	27	0.6	1	0	0	0	0	1	0	0	0	--	--		0	A			IFT122_uc003eml.2_Missense_Mutation_p.G390S|IFT122_uc003emn.2_Missense_Mutation_p.G280S|IFT122_uc003emo.2_Missense_Mutation_p.G228S|IFT122_uc003emp.2_Missense_Mutation_p.G189S|IFT122_uc010htc.2_Missense_Mutation_p.G331S|IFT122_uc011bky.1_Missense_Mutation_p.G130S|IFT122_uc003emq.2_Missense_Mutation_p.G179S|IFT122_uc003emr.2_Missense_Mutation_p.G130S|IFT122_uc011bla.1_Missense_Mutation_p.G130S|IFT122_uc011bkx.1_Missense_Mutation_p.G179S|IFT122_uc011bkz.1_RNA	102	GBM-06-5858-TP	p.G339S	G	GCAGGTGGTCGGCTGCCAGGA	NM_052989	NP_443715	129195512	Q9HBG6	IF122_HUMAN	0			11	1221	+	A	A			Missense_Mutation	339			WD 6.			
IFT122	0	broad.mit.edu	GRCh37	3	129214370	129214370	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2638-01	TCGA-32-2638-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000348417.2:c.2128G>A	p.Ala710Thr	p.A710T	ENST00000348417	NM_052989.2	710	Gcc/Acc	0			1			A	A/T	uc003emm.2	protein_coding		CCDS3061.1			2128/3726									ovary(1)|skin(1)	2	c.(2128-2130)GCC>ACC			Gene3D:1.25.40.10,hmmpanther:PTHR12764:SF4,hmmpanther:PTHR12764	WD repeat domain 10 isoform 2				ENSP00000324005		18/30									COSM3408217	18/30	.		ENST00000348417	Transcript	1		camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		ENSG00000163913	g.chr3:129214370G>A	13556			MODERATE		3.24	medium	getma.org/?cm=msa&ty=f&p=IF122_HUMAN&rb=550&re=749&var=A710T	NA	getma.org/?cm=var&var=hg19,3,129214370,G,A&fts=all	A710T	--	--	1																																		IFT122_uc003eml.2_Missense_Mutation_p.A761T|IFT122_uc003emn.2_Missense_Mutation_p.A651T|IFT122_uc003emo.2_Missense_Mutation_p.A599T|IFT122_uc003emp.2_Missense_Mutation_p.A560T|IFT122_uc010htc.2_Missense_Mutation_p.A702T|IFT122_uc011bky.1_Missense_Mutation_p.A501T|IFT122_uc003emq.2_Missense_Mutation_p.A550T|IFT122_uc003emr.2_Missense_Mutation_p.A462T|IFT122_uc011bla.1_Missense_Mutation_p.A483T|IFT122_uc010hte.2_Intron|IFT122_uc003ems.2_Missense_Mutation_p.A91T|IFT122_uc011bkx.1_Missense_Mutation_p.A550T|IFT122_uc010htd.1_Missense_Mutation_p.A189T	1			probably_damaging(0.962)	p.A710T	NM_052989	NP_443715		deleterious(0)	1	IF122_HUMAN	IFT122	HGNC	Q9HBG6	IF122_HUMAN			Q7L8K0_HUMAN,H7C3C0_HUMAN		18	2334	+			UPI000006E33C	710					SNV	IFT122,missense_variant,p.Ala761Thr,ENST00000296266,NM_052985.3;IFT122,missense_variant,p.Ala560Thr,ENST00000431818,NM_001280545.1;IFT122,missense_variant,p.Ala710Thr,ENST00000348417,NM_052989.2;IFT122,missense_variant,p.Ala651Thr,ENST00000347300,NM_018262.3;IFT122,missense_variant,p.Ala702Thr,ENST00000507564,NM_001280541.1;IFT122,missense_variant,p.Ala599Thr,ENST00000349441,NM_052990.2;IFT122,missense_variant,p.Ala501Thr,ENST00000440957,NM_001280546.1;IFT122,missense_variant,p.Ala586Thr,ENST00000504021,;IFT122,missense_variant,p.Ala207Thr,ENST00000509522,;IFT122,missense_variant,p.Ala72Thr,ENST00000507221,;IFT122,non_coding_transcript_exon_variant,,ENST00000513932,;IFT122,3_prime_UTR_variant,,ENST00000512220,;IFT122,non_coding_transcript_exon_variant,,ENST00000506507,;IFT122,intron_variant,,ENST00000511425,;IFT122,downstream_gene_variant,,ENST00000512814,;	uc003emm.2	c.2128G>A	2205/3877	2	2			c.2128G>A						3	SNP	c.(2128-2130)GCC>ACC	30	30			ovary(1)|skin(1)	2	Broad	WD repeat domain 10 isoform 2			129214370		0.512	ENSG00000163913	7424	g.chr3:129214370G>A	camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium								-18.496536	KEEP	0	4	-1	63	50	0	4	-1	7.439074	63	50	0.036036	1	0	0	0	0	1	0	0	0	--	--		0	A			IFT122_uc003eml.2_Missense_Mutation_p.A761T|IFT122_uc003emn.2_Missense_Mutation_p.A651T|IFT122_uc003emo.2_Missense_Mutation_p.A599T|IFT122_uc003emp.2_Missense_Mutation_p.A560T|IFT122_uc010htc.2_Missense_Mutation_p.A702T|IFT122_uc011bky.1_Missense_Mutation_p.A501T|IFT122_uc003emq.2_Missense_Mutation_p.A550T|IFT122_uc003emr.2_Missense_Mutation_p.A462T|IFT122_uc011bla.1_Missense_Mutation_p.A483T|IFT122_uc010hte.2_Intron|IFT122_uc003ems.2_Missense_Mutation_p.A91T|IFT122_uc011bkx.1_Missense_Mutation_p.A550T|IFT122_uc010htd.1_Missense_Mutation_p.A189T	242	GBM-32-2638-TP	p.A710T	G	CCATGAGGCCGCCAAACTGTA	NM_052989	NP_443715	129214370	Q9HBG6	IF122_HUMAN	0			18	2334	+	A	A			Missense_Mutation	710						
IFT172	26160	broad.mit.edu	GRCh37	2	27669199	27669200	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	-			TCGA-06-6389-01	TCGA-06-6389-01	AG	AG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260570.3:c.4682_4683del	p.Ser1561CysfsTer18	p.S1561Cfs*18	ENST00000260570	NM_015662.1	1561	tCT/t	0			1			-	S/X	uc002rku.2	protein_coding	YES	CCDS1755.1			4682-4683/5250									large_intestine(1)|ovary(1)	2	c.(4681-4683)TCTfs			hmmpanther:PTHR15722,hmmpanther:PTHR15722:SF2	selective LIM binding factor homolog				ENSP00000260570		43/48										43/48	.		ENST00000260570	Transcript	1		cilium assembly	cilium	binding	ENSG00000138002	g.chr2:27669199_27669200delAG	30391			HIGH								--	--	1																																		IFT172_uc010ezb.2_RNA		1			p.S1561fs	NM_015662	NP_056477				IF172_HUMAN	IFT172	HGNC	Q9UG01	IF172_HUMAN			H7C161_HUMAN		43	4733_4734	-	Acute lymphoblastic leukemia(172;0.155)		UPI0000353ABB	1561					deletion	IFT172,frameshift_variant,p.Ser1561CysfsTer18,ENST00000260570,NM_015662.1;KRTCAP3,3_prime_UTR_variant,,ENST00000543753,NM_001168364.1;KRTCAP3,3_prime_UTR_variant,,ENST00000452499,;NRBP1,downstream_gene_variant,,ENST00000233557,;NRBP1,downstream_gene_variant,,ENST00000379863,;NRBP1,downstream_gene_variant,,ENST00000379852,NM_013392.2;KRTCAP3,downstream_gene_variant,,ENST00000407293,;KRTCAP3,downstream_gene_variant,,ENST00000288873,NM_173853.3;IFT172,frameshift_variant,p.Ser85CysfsTer18,ENST00000420854,;IFT172,3_prime_UTR_variant,,ENST00000509128,;IFT172,non_coding_transcript_exon_variant,,ENST00000507184,;IFT172,non_coding_transcript_exon_variant,,ENST00000480892,;NRBP1,downstream_gene_variant,,ENST00000460499,;NRBP1,downstream_gene_variant,,ENST00000486701,;IFT172,downstream_gene_variant,,ENST00000450564,;KRTCAP3,downstream_gene_variant,,ENST00000464699,;KRTCAP3,downstream_gene_variant,,ENST00000453171,;IFT172,upstream_gene_variant,,ENST00000494163,;KRTCAP3,downstream_gene_variant,,ENST00000494572,;IFT172,upstream_gene_variant,,ENST00000479419,;	uc002rku.2	c.4682_4683delCT	4786-4787/5415	5	5			c.4682_4683delCT						2	DEL	c.(4681-4683)TCTfs	35	35			large_intestine(1)|ovary(1)	2	Broad	selective LIM binding factor homolog			27669200		0.505	ENSG00000138002	7426	g.chr2:27669199_27669200delAG	cilium assembly	cilium	binding																				0.13	1	1	0	1	0	0	0	0	0	--	--		0	-			IFT172_uc010ezb.2_RNA	105	GBM-06-6389-TP	p.S1561fs	AG	AGAGTGAAACAGAAAGCCTGGC	NM_015662	NP_056477	27669199	Q9UG01	IF172_HUMAN	0			43	4733_4734	-	-	-	Acute lymphoblastic leukemia(172;0.155)		Frame_Shift_Del	1561						
IFT172	0	broad.mit.edu	GRCh37	2	27682592	27682592	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-12-0618-01	TCGA-12-0618-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260570.3:c.2626C>A	p.His876Asn	p.H876N	ENST00000260570	NM_015662.1	876	Cac/Aac	0			1			T	H/N	uc002rku.2	protein_coding	YES	CCDS1755.1			2626/5250									large_intestine(1)|ovary(1)	2	c.(2626-2628)CAC>AAC			hmmpanther:PTHR15722,hmmpanther:PTHR15722:SF2	selective LIM binding factor homolog				ENSP00000260570		24/48									COSM2153594	24/48	.		ENST00000260570	Transcript	1		cilium assembly	cilium	binding	ENSG00000138002	g.chr2:27682592G>T	30391			MODERATE		3.085	medium	getma.org/?cm=msa&ty=f&p=IF172_HUMAN&rb=801&re=1000&var=H876N	NA	getma.org/?cm=var&var=hg19,2,27682592,G,T&fts=all	H876N	--	--	1																																			1	1		probably_damaging(0.971)	p.H876N	NM_015662	NP_056477		deleterious(0)	1	IF172_HUMAN	IFT172	HGNC	Q9UG01	IF172_HUMAN			H7C161_HUMAN		24	2677	-	Acute lymphoblastic leukemia(172;0.155)		UPI0000353ABB	876			TPR 4.		SNV	IFT172,missense_variant,p.His876Asn,ENST00000260570,NM_015662.1;IFT172,non_coding_transcript_exon_variant,,ENST00000507184,;IFT172,upstream_gene_variant,,ENST00000476693,;AC074117.13,downstream_gene_variant,,ENST00000417130,;	uc002rku.2	c.2626C>A	2730/5415	1	1			c.2626C>A						2	SNP	c.(2626-2628)CAC>AAC	12	12			large_intestine(1)|ovary(1)	2	Broad	selective LIM binding factor homolog			27682592		0.522	ENSG00000138002	7426	g.chr2:27682592G>T	cilium assembly	cilium	binding							692.564109	KEEP	142	116	0.550387597	130	157	142	116	0.550387597	693.136451	130	157	0.46371	1	0	0	0	0	1	0	0	0	--	--		0	T				119	GBM-12-0618-TP	p.H876N	G	TCGATGTAGTGATTAATGGCT	NM_015662	NP_056477	27682592	Q9UG01	IF172_HUMAN	0			24	2677	-	T	T	Acute lymphoblastic leukemia(172;0.155)		Missense_Mutation	876			TPR 4.			
IFT172	0	broad.mit.edu	GRCh37	2	27670769	27670769	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-27-1835-01	TCGA-27-1835-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260570.3:c.4449G>T	p.Arg1483Ser	p.R1483S	ENST00000260570	NM_015662.1	1483	agG/agT	0			1			A	R/S	uc002rku.2	protein_coding	YES	CCDS1755.1			4449/5250									large_intestine(1)|ovary(1)	2	c.(4447-4449)AGG>AGT			hmmpanther:PTHR15722,hmmpanther:PTHR15722:SF2	selective LIM binding factor homolog				ENSP00000260570		41/48									COSM2157253	41/48	.		ENST00000260570	Transcript	1		cilium assembly	cilium	binding	ENSG00000138002	g.chr2:27670769C>A	30391			MODERATE		2.545	medium	getma.org/?cm=msa&ty=f&p=IF172_HUMAN&rb=1401&re=1600&var=R1483S	NA	getma.org/?cm=var&var=hg19,2,27670769,C,A&fts=all	R1483S	--	--	1																																		IFT172_uc010ezb.2_RNA	1	1		possibly_damaging(0.686)	p.R1483S	NM_015662	NP_056477		deleterious(0.01)	1	IF172_HUMAN	IFT172	HGNC	Q9UG01	IF172_HUMAN			H7C161_HUMAN		41	4500	-	Acute lymphoblastic leukemia(172;0.155)		UPI0000353ABB	1483					SNV	IFT172,missense_variant,p.Arg1483Ser,ENST00000260570,NM_015662.1;KRTCAP3,downstream_gene_variant,,ENST00000543753,NM_001168364.1;KRTCAP3,downstream_gene_variant,,ENST00000407293,;KRTCAP3,downstream_gene_variant,,ENST00000288873,NM_173853.3;KRTCAP3,downstream_gene_variant,,ENST00000452499,;IFT172,missense_variant,p.Arg282Ser,ENST00000509128,;IFT172,missense_variant,p.Arg7Ser,ENST00000420854,;IFT172,non_coding_transcript_exon_variant,,ENST00000507184,;IFT172,downstream_gene_variant,,ENST00000450564,;KRTCAP3,downstream_gene_variant,,ENST00000464699,;KRTCAP3,downstream_gene_variant,,ENST00000453171,;IFT172,upstream_gene_variant,,ENST00000494163,;KRTCAP3,downstream_gene_variant,,ENST00000494572,;IFT172,upstream_gene_variant,,ENST00000480892,;IFT172,upstream_gene_variant,,ENST00000479419,;	uc002rku.2	c.4449G>T	4553/5415	2	2			c.4449G>T						2	SNP	c.(4447-4449)AGG>AGT	28	28			large_intestine(1)|ovary(1)	2	Broad	selective LIM binding factor homolog			27670769		0.502	ENSG00000138002	7426	g.chr2:27670769C>A	cilium assembly	cilium	binding							152.624557	KEEP	34	32	0.484848485	36	66	34	32	0.484848485	154.713926	36	66	0.375	1	0	0	0	0	1	0	0	0	--	--		0	A			IFT172_uc010ezb.2_RNA	194	GBM-27-1835-TP	p.R1483S	C	CAGTGAAGATCCTTTTGTAGA	NM_015662	NP_056477	27670769	Q9UG01	IF172_HUMAN	0			41	4500	-	A	A	Acute lymphoblastic leukemia(172;0.155)		Missense_Mutation	1483						
IFT172	0	broad.mit.edu	GRCh37	2	27688614	27688614	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01	TCGA-32-4208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260570.3:c.1828C>T	p.Arg610Trp	p.R610W	ENST00000260570	NM_015662.1	610	Cgg/Tgg	0	A:0		1			A	R/W	uc002rku.2	protein_coding	YES	CCDS1755.1			1828/5250									large_intestine(1)|ovary(1)	2	c.(1828-1830)CGG>TGG			hmmpanther:PTHR15722,hmmpanther:PTHR15722:SF2	selective LIM binding factor homolog			A:0.0001	ENSP00000260570		17/48	1.65E-05		8.64E-05			1.50E-05			rs376749789,COSM3407793	17/48	.		ENST00000260570	Transcript	1		cilium assembly	cilium	binding	ENSG00000138002	g.chr2:27688614G>A	30391			MODERATE		2.915	medium	getma.org/?cm=msa&ty=f&p=IF172_HUMAN&rb=601&re=800&var=R610W	NA	getma.org/?cm=var&var=hg19,2,27688614,G,A&fts=all	R610W	--	--	1																																			0,1	1		probably_damaging(1)	p.R610W	NM_015662	NP_056477		deleterious(0)	0,1	IF172_HUMAN	IFT172	HGNC	Q9UG01	IF172_HUMAN			H7C161_HUMAN		17	1879	-	Acute lymphoblastic leukemia(172;0.155)		UPI0000353ABB	610			TPR 1.		SNV	IFT172,missense_variant,p.Arg610Trp,ENST00000260570,NM_015662.1;IFT172,splice_region_variant,,ENST00000507184,;IFT172,splice_region_variant,,ENST00000489492,;	uc002rku.2	c.1828C>T	1932/5415	2	2			c.1828C>T						2	SNP	c.(1828-1830)CGG>TGG	24	24			large_intestine(1)|ovary(1)	2	Broad	selective LIM binding factor homolog			27688614		0.537	ENSG00000138002	7426	g.chr2:27688614G>A	cilium assembly	cilium	binding							-121.936497	KEEP	13	25	-1	418	540	13	25	-1	48.94261	418	540	0.036735	1	0	0	0	0	1	0	0	0	--	--		0	A				243	GBM-32-4208-TP	p.R610W	G	GCCTCTCACCGGATGTAGTTG	NM_015662	NP_056477	27688614	Q9UG01	IF172_HUMAN	0			17	1879	-	A	A	Acute lymphoblastic leukemia(172;0.155)		Missense_Mutation	610			TPR 1.			
IFT57	55081	broad.mit.edu	GRCh37	3	107938379	107938379	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0209-01	TCGA-06-0209-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264538.3:c.253T>A	p.Tyr85Asn	p.Y85N	ENST00000264538	NM_018010.3	85	Tac/Aac	0			1			T	Y/N	uc003dwx.3	protein_coding	YES	CCDS2951.1			253/1290									ovary(1)|skin(1)|pancreas(1)	3	c.(253-255)TAC>AAC			Pfam_domain:PF10498,hmmpanther:PTHR16011	estrogen-related receptor beta like 1				ENSP00000264538		11-Feb									COSM3408094	11-Feb	.		ENST00000264538	Transcript			activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding	ENSG00000114446	g.chr3:107938379A>T	17367			MODERATE		2.325	medium	getma.org/?cm=msa&ty=f&p=IFT57_HUMAN&rb=44&re=402&var=Y85N	NA	getma.org/?cm=var&var=hg19,3,107938379,A,T&fts=all	Y85N	--	--	1																																			1	1		benign(0.292)	p.Y85N	NM_018010	NP_060480		deleterious(0.05)	1	IFT57_HUMAN	IFT57	HGNC	Q9NWB7	IFT57_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)				2	501	-			UPI0000039E8B	85					SNV	IFT57,missense_variant,p.Tyr85Asn,ENST00000264538,NM_018010.3;IFT57,missense_variant,p.Tyr116Asn,ENST00000492106,;IFT57,non_coding_transcript_exon_variant,,ENST00000465024,;IFT57,non_coding_transcript_exon_variant,,ENST00000485979,;IFT57,intron_variant,,ENST00000478157,;	uc003dwx.3	c.253T>A	501/3203	2	2			c.253T>A						3	SNP	c.(253-255)TAC>AAC	44	44			ovary(1)|skin(1)|pancreas(1)	3	Broad	estrogen-related receptor beta like 1			107938379		0.408	ENSG00000114446	7431	g.chr3:107938379A>T	activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding							101.192069	KEEP	17	25	-1	60	49	17	25	-1	106.675185	60	49	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	T				46	GBM-06-0209-TP	p.Y85N	A	CAAAACATGTAGAACTGTTCG	NM_018010	NP_060480	107938379	Q9NWB7	IFT57_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)		2	501	-	T	T			Missense_Mutation	85						
IGDCC3	0	broad.mit.edu	GRCh37	15	65621380	65621380	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-19-5947-01	TCGA-19-5947-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327987.4:c.2312A>T	p.Glu771Val	p.E771V	ENST00000327987	NM_004884.3	771	gAg/gTg	0			1			A	E/V	uc002aos.2	protein_coding	YES	CCDS10205.1			2312/2445									ovary(3)	3	c.(2311-2313)GAG>GTG			Low_complexity_(Seg):seg	putative neuronal cell adhesion molecule				ENSP00000332773		14/14									COSM3401874	14/14	.		ENST00000327987	Transcript						ENSG00000174498	g.chr15:65621380T>A	9700			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=IGDC3_HUMAN&rb=771&re=812&var=E771V	NA	getma.org/?cm=var&var=hg19,15,65621380,T,A&fts=all	E771V	--	--	1																																		IGDCC3_uc002aor.1_Missense_Mutation_p.E57V	1	1		benign(0)	p.E771V	NM_004884	NP_004875		tolerated_low_confidence(0.16)	1	IGDC3_HUMAN	IGDCC3	HGNC	Q8IVU1	IGDC3_HUMAN			H0YNQ1_HUMAN		14	2564	-			UPI000019908F	771			Cytoplasmic (Potential).		SNV	IGDCC3,missense_variant,p.Glu771Val,ENST00000327987,NM_004884.3;IGDCC3,downstream_gene_variant,,ENST00000558354,;IGDCC3,downstream_gene_variant,,ENST00000559231,;	uc002aos.2	c.2312A>T	2564/4479	1	1			c.2312A>T						15	SNP	c.(2311-2313)GAG>GTG	49	49			ovary(3)	3	Broad	putative neuronal cell adhesion molecule			65621380		0.716	ENSG00000174498	7437	g.chr15:65621380T>A										2.449349	KEEP	3	2	-1	11	15	3	2	-1	6.69851	11	15	0.107143	1	0	0	0	0	1	0	0	0	--	--		0	A			IGDCC3_uc002aor.1_Missense_Mutation_p.E57V	169	GBM-19-5947-TP	p.E771V	T	AGCCGTGGCCTCTGTGGTCTT	NM_004884	NP_004875	65621380	Q8IVU1	IGDC3_HUMAN	0			14	2564	-	A	A			Missense_Mutation	771			Cytoplasmic (Potential).			
IGDCC3	0	broad.mit.edu	GRCh37	15	65667680	65667680	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01	TCGA-76-4928-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327987.4:c.164C>T	p.Pro55Leu	p.P55L	ENST00000327987	NM_004884.3	55	cCc/cTc	0			1			A	P/L	uc002aos.2	protein_coding	YES	CCDS10205.1			164/2445									ovary(3)	3	c.(163-165)CCC>CTC			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF106,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	putative neuronal cell adhesion molecule				ENSP00000332773		14-Feb									COSM3401875	14-Feb	.		ENST00000327987	Transcript						ENSG00000174498	g.chr15:65667680G>A	9700			MODERATE		-0.135	neutral	getma.org/?cm=msa&ty=f&p=IGDC3_HUMAN&rb=42&re=134&var=P55L	getma.org/pdb.php?prot=IGDC3_HUMAN&from=42&to=134&var=P55L	getma.org/?cm=var&var=hg19,15,65667680,G,A&fts=all	P55L	--	--	1																																			1	1		benign(0.013)	p.P55L	NM_004884	NP_004875		tolerated(0.05)	1	IGDC3_HUMAN	IGDCC3	HGNC	Q8IVU1	IGDC3_HUMAN			H0YNQ1_HUMAN		2	416	-			UPI000019908F	55			Extracellular (Potential).|Ig-like C2-type 1.		SNV	IGDCC3,missense_variant,p.Pro55Leu,ENST00000327987,NM_004884.3;IGDCC3,upstream_gene_variant,,ENST00000559947,;	uc002aos.2	c.164C>T	416/4479	1	1			c.164C>T						15	SNP	c.(163-165)CCC>CTC	64	64			ovary(3)	3	Broad	putative neuronal cell adhesion molecule			65667680		0.582	ENSG00000174498	7437	g.chr15:65667680G>A										0.598233	KEEP	1	2	-1	11	34	1	2	-1	7.475066	11	34	0.078947	1	0	0	0	0	1	0	0	0	--	--		0	A				268	GBM-76-4928-TP	p.P55L	G	AGGCTGCCCGGGGACGGCAAC	NM_004884	NP_004875	65667680	Q8IVU1	IGDC3_HUMAN	0			2	416	-	A	A			Missense_Mutation	55			Extracellular (Potential).|Ig-like C2-type 1.			
IGF1	0	broad.mit.edu	GRCh37	12	102813354	102813354	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-12-0619-01	TCGA-12-0619-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307046.8:c.335T>C	p.Leu112Pro	p.L112P	ENST00000307046	NM_001111285.1	112	cTc/cCc	0			1			G	L/P	uc001tjp.3	protein_coding	YES	CCDS44962.1			335/588									central_nervous_system(1)|pancreas(1)	2	c.(334-336)CTC>CCC			hmmpanther:PTHR11454,hmmpanther:PTHR11454:SF4,Gene3D:1.10.100.10,Superfamily_domains:SSF56994,Prints_domain:PR02005,Prints_domain:PR02002	insulin-like growth factor 1 isoform 3				ENSP00000302665		4-Mar									COSM3747907,COSM3747906	4-Mar	.		ENST00000307046	Transcript	1		anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding	ENSG00000017427	g.chr12:102813354A>G	5464			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=IGF1_HUMAN&rb=110&re=195&var=L112P	NA	getma.org/?cm=var&var=hg19,12,102813354,A,G&fts=all	L112P	--	--	1																																		IGF1_uc001tjn.2_Missense_Mutation_p.L96P|IGF1_uc001tjm.2_Missense_Mutation_p.L112P|IGF1_uc001tjo.2_Missense_Mutation_p.L112P	1,1	1		benign(0.02)	p.L112P	NM_001111285	NP_001104755		tolerated(0.07)	1,1	IGF1_HUMAN	IGF1	HGNC	P05019	IGF1_HUMAN			Q6LD41_HUMAN		3	554	-			UPI0000115ED4	112			D.		SNV	IGF1,missense_variant,p.Leu112Pro,ENST00000456098,NM_001111283.1;IGF1,missense_variant,p.Leu112Pro,ENST00000337514,NM_000618.3;IGF1,missense_variant,p.Leu112Pro,ENST00000307046,NM_001111285.1;IGF1,missense_variant,p.Leu112Pro,ENST00000392904,;IGF1,missense_variant,p.Leu96Pro,ENST00000424202,NM_001111284.1;IGF1,missense_variant,p.Leu93Pro,ENST00000392905,;IGF1,upstream_gene_variant,,ENST00000481539,;	uc001tjp.3	c.335T>C	517/1097	3	3			c.335T>C						12	SNP	c.(334-336)CTC>CCC	52	52			central_nervous_system(1)|pancreas(1)	2	Broad	insulin-like growth factor 1 isoform 3			102813354		0.617	ENSG00000017427	7439	g.chr12:102813354A>G	anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding							-9.125092	KEEP	1	2	-1	39	38	1	2	-1	6.83692	39	38	0.042254	1	0	0	0	0	1	0	0	0	--	--		0	G			IGF1_uc001tjn.2_Missense_Mutation_p.L96P|IGF1_uc001tjm.2_Missense_Mutation_p.L112P|IGF1_uc001tjo.2_Missense_Mutation_p.L112P	120	GBM-12-0619-TP	p.L112P	A	GGCAGGCTTGAGGGGTGCGCA	NM_001111285	NP_001104755	102813354	P05019	IGF1_HUMAN	0			3	554	-	G	G			Missense_Mutation	112			D.			
IGF1	0	broad.mit.edu	GRCh37	12	102869429	102869429	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-14-3476-01	TCGA-14-3476-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307046.8:c.212T>G	p.Phe71Cys	p.F71C	ENST00000307046	NM_001111285.1	71	tTt/tGt	0			1			C	F/C	uc001tjp.3	protein_coding	YES	CCDS44962.1			212/588									central_nervous_system(1)|pancreas(1)	2	c.(211-213)TTT>TGT			hmmpanther:PTHR11454,hmmpanther:PTHR11454:SF4,Gene3D:1.10.100.10,Pfam_domain:PF00049,SMART_domains:SM00078,Superfamily_domains:SSF56994	insulin-like growth factor 1 isoform 3				ENSP00000302665		4-Feb									COSM3398260,COSM3398259	4-Feb	.		ENST00000307046	Transcript	1		anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding	ENSG00000017427	g.chr12:102869429A>C	5464			MODERATE		3.66	high	getma.org/?cm=msa&ty=f&p=IGF1_HUMAN&rb=51&re=109&var=F71C	getma.org/pdb.php?prot=IGF1_HUMAN&from=51&to=109&var=F71C	getma.org/?cm=var&var=hg19,12,102869429,A,C&fts=all	F71C	--	--	1																																		IGF1_uc001tjn.2_Missense_Mutation_p.F55C|IGF1_uc001tjm.2_Missense_Mutation_p.F71C|IGF1_uc001tjo.2_Missense_Mutation_p.F71C	1,1	1		possibly_damaging(0.617)	p.F71C	NM_001111285	NP_001104755		deleterious(0.02)	1,1	IGF1_HUMAN	IGF1	HGNC	P05019	IGF1_HUMAN			Q6LD41_HUMAN		2	431	-			UPI0000115ED4	71			B.		SNV	IGF1,missense_variant,p.Phe71Cys,ENST00000456098,NM_001111283.1;IGF1,missense_variant,p.Phe71Cys,ENST00000337514,NM_000618.3;IGF1,missense_variant,p.Phe71Cys,ENST00000307046,NM_001111285.1;IGF1,missense_variant,p.Phe71Cys,ENST00000392904,;IGF1,missense_variant,p.Phe55Cys,ENST00000424202,NM_001111284.1;IGF1,missense_variant,p.Phe52Cys,ENST00000392905,;	uc001tjp.3	c.212T>G	394/1097	3	3			c.212T>G						12	SNP	c.(211-213)TTT>TGT	15	15			central_nervous_system(1)|pancreas(1)	2	Broad	insulin-like growth factor 1 isoform 3			102869429		0.537	ENSG00000017427	7439	g.chr12:102869429A>C	anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding							-21.315265	KEEP	5	1	-1	72	71	5	1	-1	10.05286	72	71	0.030769	1	0	0	0	0	1	0	0	0	--	--		0	C			IGF1_uc001tjn.2_Missense_Mutation_p.F55C|IGF1_uc001tjm.2_Missense_Mutation_p.F71C|IGF1_uc001tjo.2_Missense_Mutation_p.F71C	151	GBM-14-3476-TP	p.F71C	A	ACTGAAATAAAAGCCCCTGTC	NM_001111285	NP_001104755	102869429	P05019	IGF1_HUMAN	0			2	431	-	C	C			Missense_Mutation	71			B.			
IGF1R	3480	broad.mit.edu	GRCh37	15	99250943	99250943	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0157-01	TCGA-06-0157-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268035.6:c.247G>T	p.Glu83Ter	p.E83*	ENST00000268035	NM_000875.3	83	Gag/Tag	0			1			T	E/*	uc002bul.2	protein_coding	YES	CCDS10378.1			247/4104									lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	c.(247-249)GAG>TAG			Superfamily_domains:SSF52058,PIRSF_domain:PIRSF000620,Pfam_domain:PF01030,Gene3D:3.80.20.20,hmmpanther:PTHR24416:SF106,hmmpanther:PTHR24416	insulin-like growth factor 1 receptor precursor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)			ENSP00000268035		21-Feb									COSM3402035	21-Feb	.		ENST00000268035	Transcript	1		anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	ENSG00000140443	g.chr15:99250943G>T	5465			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,15,99250943,G,T&fts=all	E83*	--	--	1																																		IGF1R_uc010urq.1_Nonsense_Mutation_p.E83*|IGF1R_uc010bon.2_Nonsense_Mutation_p.E83*	1	1			p.E83*	NM_000875	NP_000866			1	IGF1R_HUMAN	IGF1R	HGNC	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		H0YNR0_HUMAN,H0YMJ5_HUMAN		2	297	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		UPI000012D3EA	83					SNV	IGF1R,stop_gained,p.Glu83Ter,ENST00000268035,NM_000875.3;IGF1R,stop_gained,p.Glu83Ter,ENST00000558762,;IGF1R,upstream_gene_variant,,ENST00000558355,;IGF1R,non_coding_transcript_exon_variant,,ENST00000559925,;	uc002bul.2	c.247G>T	858/11803	5	2			c.247G>T						15	SNP	c.(247-249)GAG>TAG	17	17			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	Broad	insulin-like growth factor 1 receptor precursor		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	99250943		0.597	ENSG00000140443	7440	g.chr15:99250943G>T	anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			471			471	-10.638641	KEEP	2	2	0.5	47	63	2	2	0.5	6.746272	47	63	0.039474	1	0	0	0	0	0	1	0	0	--	--		0	T			IGF1R_uc010urq.1_Nonsense_Mutation_p.E83*|IGF1R_uc010bon.2_Nonsense_Mutation_p.E83*	28	GBM-06-0157-TP	p.E83*	G	GGTCATTACCGAGTACTTGCT	NM_000875	NP_000866	99250943	P08069	IGF1R_HUMAN	0	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		2	297	+	T	T	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Nonsense_Mutation	83						
IGF1R	0	broad.mit.edu	GRCh37	15	99251008	99251008	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-2526-01	TCGA-27-2526-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268035.6:c.312G>A	p.Thr104=	p.T104=	ENST00000268035	NM_000875.3	104	acG/acA	0			1			A	T	uc002bul.2	protein_coding	YES	CCDS10378.1			312/4104									lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	c.(310-312)ACG>ACA			Superfamily_domains:SSF52058,PIRSF_domain:PIRSF000620,Pfam_domain:PF01030,Gene3D:3.80.20.20,hmmpanther:PTHR24416:SF106,hmmpanther:PTHR24416	insulin-like growth factor 1 receptor precursor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)			ENSP00000268035		21-Feb									COSM2141332	21-Feb	.		ENST00000268035	Transcript	1		anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	ENSG00000140443	g.chr15:99251008G>A	5465			LOW								--	--	1																																		IGF1R_uc010urq.1_Silent_p.T104T|IGF1R_uc010bon.2_Silent_p.T104T	1	1			p.T104T	NM_000875	NP_000866			1	IGF1R_HUMAN	IGF1R	HGNC	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		H0YNR0_HUMAN,H0YMJ5_HUMAN		2	362	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		UPI000012D3EA	104					SNV	IGF1R,synonymous_variant,p.=,ENST00000268035,NM_000875.3;IGF1R,synonymous_variant,p.=,ENST00000558762,;IGF1R,upstream_gene_variant,,ENST00000558355,;IGF1R,non_coding_transcript_exon_variant,,ENST00000559925,;	uc002bul.2	c.312G>A	923/11803	2	2			c.312G>A						15	SNP	c.(310-312)ACG>ACA	32	32			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	Broad	insulin-like growth factor 1 receptor precursor		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	99251008		0.547	ENSG00000140443	7440	g.chr15:99251008G>A	anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			471			471	61.69328	KEEP	9	12	-1	11	17	9	12	-1	61.863833	11	17	0.434783	1	0	0	0	0	0	0	1	0	--	--		0	A			IGF1R_uc010urq.1_Silent_p.T104T|IGF1R_uc010bon.2_Silent_p.T104T	203	GBM-27-2526-TP	p.T104T	G	CCAACCTCACGGTCATCCGCG	NM_000875	NP_000866	99251008	P08069	IGF1R_HUMAN	0	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		2	362	+	A	A	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Silent	104						
IGF1R	3480		GRCh37	15	99251218	99251218	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000268035.6:c.522C>T	p.Pro174=	p.P174=	ENST00000268035	NM_000875.3	174	ccC/ccT	0																																																																																																																																																																																																																																												
IGF1R	3480		GRCh37	15	99456497	99456497	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000268035.6:c.1814G>T	p.Arg605Leu	p.R605L	ENST00000268035	NM_000875.3	605	cGc/cTc	0																																																																																																																																																																																																																																												
IGF2BP1	0	broad.mit.edu	GRCh37	17	47115627	47115627	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290341.3:c.499C>T	p.Arg167Cys	p.R167C	ENST00000290341	NM_006546.3	167	Cgc/Tgc	0			1			T	R/C	uc002iom.2	protein_coding	YES	CCDS11543.1			499/1734									kidney(1)	1	c.(499-501)CGC>TGC			hmmpanther:PTHR10288:SF136,hmmpanther:PTHR10288,Gene3D:3.30.70.330	insulin-like growth factor 2 mRNA binding				ENSP00000290341		15-Jun									COSM2154294	15-Jun	.		ENST00000290341	Transcript			CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	ENSG00000159217	g.chr17:47115627C>T	28866			MODERATE		0.97	low	getma.org/?cm=msa&ty=f&p=IF2B1_HUMAN&rb=151&re=196&var=R167C	NA	getma.org/?cm=var&var=hg19,17,47115627,C,T&fts=all	R167C	--	--	1																																		IGF2BP1_uc010dbj.2_Intron	1	1		benign(0.022)	p.R167C	NM_006546	NP_006537		tolerated(0.06)	1	IF2B1_HUMAN	IGF2BP1	HGNC	Q9NZI8	IF2B1_HUMAN			D3DTW3_HUMAN		6	833	+			UPI0000117170	167					SNV	IGF2BP1,missense_variant,p.Arg167Cys,ENST00000290341,NM_006546.3;IGF2BP1,intron_variant,,ENST00000431824,NM_001160423.1;RNU6-826P,downstream_gene_variant,,ENST00000516827,;IGF2BP1,downstream_gene_variant,,ENST00000515586,;IGF2BP1,downstream_gene_variant,,ENST00000499130,;IGF2BP1,non_coding_transcript_exon_variant,,ENST00000505562,;RP11-501C14.7,downstream_gene_variant,,ENST00000511142,;	uc002iom.2	c.499C>T	833/8274	2	2			c.499C>T						17	SNP	c.(499-501)CGC>TGC	45	45			kidney(1)	1	Broad	insulin-like growth factor 2 mRNA binding			47115627		0.637	ENSG00000159217	7442	g.chr17:47115627C>T	CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	Esophageal Squamous(198;1041 2123 8248 37119 38268)			Esophageal Squamous(198;1041 2123 8248 37119 38268)			126.943	KEEP	23	24	-1	34	24	23	24	-1	127.360428	34	24	0.43	1	0	0	0	0	1	0	0	0	--	--		0	T			IGF2BP1_uc010dbj.2_Intron	122	GBM-12-0692-TP	p.R167C	C	TGAGAATGGGCGCCGAGGGGG	NM_006546	NP_006537	47115627	Q9NZI8	IF2B1_HUMAN	0			6	833	+	T	T			Missense_Mutation	167						
IGF2BP1	0	broad.mit.edu	GRCh37	17	47115648	47115648	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1833-01	TCGA-27-1833-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290341.3:c.520C>T	p.Arg174Trp	p.R174W	ENST00000290341	NM_006546.3	174	Cgg/Tgg	0			1			T	R/W	uc002iom.2	protein_coding	YES	CCDS11543.1			520/1734									kidney(1)	1	c.(520-522)CGG>TGG			hmmpanther:PTHR10288:SF136,hmmpanther:PTHR10288	insulin-like growth factor 2 mRNA binding				ENSP00000290341		15-Jun	8.24E-06					1.53E-05			rs779507141,COSM3402976	15-Jun	.		ENST00000290341	Transcript			CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	ENSG00000159217	g.chr17:47115648C>T	28866			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=IF2B1_HUMAN&rb=151&re=196&var=R174W	NA	getma.org/?cm=var&var=hg19,17,47115648,C,T&fts=all	R174W	--	--	1																																		IGF2BP1_uc010dbj.2_Intron	0,1	1		benign(0.246)	p.R174W	NM_006546	NP_006537		deleterious(0)	0,1	IF2B1_HUMAN	IGF2BP1	HGNC	Q9NZI8	IF2B1_HUMAN			D3DTW3_HUMAN		6	854	+			UPI0000117170	174					SNV	IGF2BP1,missense_variant,p.Arg174Trp,ENST00000290341,NM_006546.3;IGF2BP1,intron_variant,,ENST00000431824,NM_001160423.1;RNU6-826P,downstream_gene_variant,,ENST00000516827,;IGF2BP1,downstream_gene_variant,,ENST00000515586,;IGF2BP1,downstream_gene_variant,,ENST00000499130,;IGF2BP1,non_coding_transcript_exon_variant,,ENST00000505562,;RP11-501C14.7,downstream_gene_variant,,ENST00000511142,;	uc002iom.2	c.520C>T	854/8274	2	2			c.520C>T						17	SNP	c.(520-522)CGG>TGG	41	41			kidney(1)	1	Broad	insulin-like growth factor 2 mRNA binding			47115648		0.652	ENSG00000159217	7442	g.chr17:47115648C>T	CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	Esophageal Squamous(198;1041 2123 8248 37119 38268)			Esophageal Squamous(198;1041 2123 8248 37119 38268)			24.764938	KEEP	5	9	-1	45	39	5	9	-1	33.564205	45	39	0.166667	1	0	0	0	0	1	0	0	0	--	--		0	T			IGF2BP1_uc010dbj.2_Intron	192	GBM-27-1833-TP	p.R174W	C	CTTTGGCTCTCGGGGTCAGCC	NM_006546	NP_006537	47115648	Q9NZI8	IF2B1_HUMAN	0			6	854	+	T	T			Missense_Mutation	174						
IGF2BP3	0	broad.mit.edu	GRCh37	7	23509595	23509595	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-1834-01	TCGA-27-1834-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258729.3:c.135G>A	p.Pro45=	p.P45=	ENST00000258729	NM_006547.2	45	ccG/ccA	0			1			T	P	uc003swg.2	protein_coding	YES	CCDS5382.1			135/1740									ovary(2)	2	c.(133-135)CCG>CCA			Gene3D:3.30.70.330,Pfam_domain:PF14259,PROSITE_profiles:PS50102,hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF92,SMART_domains:SM00360,Superfamily_domains:SSF54928	insulin-like growth factor 2 mRNA binding				ENSP00000258729		15-Jan									COSM3411942	15-Jan	.		ENST00000258729	Transcript			anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	ENSG00000136231	g.chr7:23509595C>T	28868			LOW								--	--	1																																		IGF2BP3_uc003swh.1_RNA	1	1			p.P45P	NM_006547	NP_006538			1	IF2B3_HUMAN	IGF2BP3	HGNC	O00425	IF2B3_HUMAN					1	401	-			UPI0000117172	45			RRM 1.		SNV	IGF2BP3,synonymous_variant,p.=,ENST00000258729,NM_006547.2;IGF2BP3,upstream_gene_variant,,ENST00000491719,;IGF2BP3,upstream_gene_variant,,ENST00000468263,;IGF2BP3,synonymous_variant,p.=,ENST00000421467,;IGF2BP3,non_coding_transcript_exon_variant,,ENST00000468005,;IGF2BP3,non_coding_transcript_exon_variant,,ENST00000476938,;	uc003swg.2	c.135G>A	492/4250	1	1			c.135G>A						7	SNP	c.(133-135)CCG>CCA	3	3			ovary(2)	2	Broad	insulin-like growth factor 2 mRNA binding			23509595		0.697	ENSG00000136231	7444	g.chr7:23509595C>T	anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity							152.883908	KEEP	24	39	-1	68	120	24	39	-1	166.678656	68	120	0.243478	1	0	0	0	0	0	0	1	0	--	--		0	T			IGF2BP3_uc003swh.1_RNA	193	GBM-27-1834-TP	p.P45P	C	AGCTCTCGTCCGGGCAGTCCA	NM_006547	NP_006538	23509595	O00425	IF2B3_HUMAN	0			1	401	-	T	T			Silent	45			RRM 1.			
IGF2R	0	broad.mit.edu	GRCh37	6	160445736	160445736	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356956.1:c.646G>T	p.Asp216Tyr	p.D216Y	ENST00000356956	NM_000876.2	216	Gac/Tac	0			1			T	D/Y	uc003qta.2	protein_coding	YES	CCDS5273.1			646/7476									ovary(3)	3	c.(646-648)GAC>TAC			hmmpanther:PTHR10439:SF4,hmmpanther:PTHR10439,Pfam_domain:PF00878,Gene3D:2.70.130.10,Superfamily_domains:SSF50911	insulin-like growth factor 2 receptor precursor				ENSP00000349437		May-48									COSM3410749	May-48	.		ENST00000356956	Transcript			receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	ENSG00000197081	g.chr6:160445736G>T	5467			MODERATE		2.4	medium	getma.org/?cm=msa&ty=f&p=MPRI_HUMAN&rb=123&re=270&var=D216Y	getma.org/pdb.php?prot=MPRI_HUMAN&from=123&to=270&var=D216Y	getma.org/?cm=var&var=hg19,6,160445736,G,T&fts=all	D216Y	2.585	medium	1																																			1	1		possibly_damaging(0.905)	p.D216Y	NM_000876	NP_000867		deleterious(0.01)	1	MPRI_HUMAN	IGF2R	HGNC	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	A0N9R7_HUMAN,A0N9R6_HUMAN		5	794	+		Breast(66;0.000777)|Ovarian(120;0.0305)	UPI0000072478	216			2.|Lumenal (Potential).		SNV	IGF2R,missense_variant,p.Asp216Tyr,ENST00000356956,NM_000876.2;IGF2R,downstream_gene_variant,,ENST00000464636,;	uc003qta.2	c.646G>T	794/9091	2	2			c.646G>T						6	SNP	c.(646-648)GAC>TAC	47	47			ovary(3)	3	Broad	insulin-like growth factor 2 receptor precursor			160445736		0.438	ENSG00000197081	7445	g.chr6:160445736G>T	receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity							-23.923129	KEEP	2	2	0.5	63	79	2	2	0.5	7.458805	63	79	0.030769	1	0	0	0	0	1	0	0	0	2.585	medium		0	T				160	GBM-19-1790-TP	p.D216Y	G	TAGAGACATAGGTATGAATCT	NM_000876	NP_000867	160445736	P11717	MPRI_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	5	794	+	T	T		Breast(66;0.000777)|Ovarian(120;0.0305)	Missense_Mutation	216			2.|Lumenal (Potential).			
IGF2R	0	broad.mit.edu	GRCh37	6	160501272	160501272	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-1979-01	TCGA-32-1979-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356956.1:c.5798A>G	p.Tyr1933Cys	p.Y1933C	ENST00000356956	NM_000876.2	1933	tAc/tGc	0			1			G	Y/C	uc003qta.2	protein_coding	YES	CCDS5273.1			5798/7476									ovary(3)	3	c.(5797-5799)TAC>TGC			PROSITE_profiles:PS51092,hmmpanther:PTHR10439:SF4,hmmpanther:PTHR10439,PROSITE_patterns:PS00023,Pfam_domain:PF00040,Gene3D:2.10.10.10,SMART_domains:SM00059,Superfamily_domains:SSF57440,Prints_domain:PR00013	insulin-like growth factor 2 receptor precursor				ENSP00000349437		39/48									COSM3410750	39/48	.		ENST00000356956	Transcript			receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	ENSG00000197081	g.chr6:160501272A>G	5467			MODERATE		3.94	high	getma.org/?cm=msa&ty=f&p=MPRI_HUMAN&rb=1903&re=1942&var=Y1933C	getma.org/pdb.php?prot=MPRI_HUMAN&from=1903&to=1942&var=Y1933C	getma.org/?cm=var&var=hg19,6,160501272,A,G&fts=all	Y1933C	--	--	1																																			1	1		probably_damaging(0.998)	p.Y1933C	NM_000876	NP_000867		deleterious(0)	1	MPRI_HUMAN	IGF2R	HGNC	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	A0N9R7_HUMAN,A0N9R6_HUMAN		39	5946	+		Breast(66;0.000777)|Ovarian(120;0.0305)	UPI0000072478	1933			13.|Lumenal (Potential).|Fibronectin type-II.		SNV	IGF2R,missense_variant,p.Tyr1933Cys,ENST00000356956,NM_000876.2;IGF2R,upstream_gene_variant,,ENST00000475834,;	uc003qta.2	c.5798A>G	5946/9091	3	3			c.5798A>G						6	SNP	c.(5797-5799)TAC>TGC	9	9			ovary(3)	3	Broad	insulin-like growth factor 2 receptor precursor			160501272		0.577	ENSG00000197081	7445	g.chr6:160501272A>G	receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity							96.808173	KEEP	16	15	-1	41	36	16	15	-1	100.012959	41	36	0.31	1	0	0	0	0	1	0	0	0	--	--		0	G				230	GBM-32-1979-TP	p.Y1933C	A	ACTGCGGACTACGACAGAGAC	NM_000876	NP_000867	160501272	P11717	MPRI_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	39	5946	+	G	G		Breast(66;0.000777)|Ovarian(120;0.0305)	Missense_Mutation	1933			13.|Lumenal (Potential).|Fibronectin type-II.			
IGF2R	3482		GRCh37	6	160506085	160506085	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000356956.1:c.6127G>A	p.Ala2043Thr	p.A2043T	ENST00000356956	NM_000876.2	2043	Gcc/Acc	0																																																																																																																																																																																																																																												
IGFALS	0	broad.mit.edu	GRCh37	16	1841525	1841525	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1977-01	TCGA-32-1977-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000215539.3:c.894C>T	p.Ser298=	p.S298=	ENST00000215539		298	tcC/tcT	0			1			A	S	uc002cmy.2	protein_coding		CCDS10446.1			894/1818										0	c.(892-894)TCC>TCT			Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF67,SMART_domains:SM00369,Superfamily_domains:SSF52058,Superfamily_domains:SSF52058	insulin-like growth factor binding protein, acid				ENSP00000215539		2-Feb	8.32E-06					3.19E-05			rs759846527,COSM3402117,COSM3402116	2-Feb	.		ENST00000215539	Transcript	1		cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding	ENSG00000099769	g.chr16:1841525G>A	5468			LOW								--	--	1																																		IGFALS_uc010uvn.1_Silent_p.S336S|IGFALS_uc010uvo.1_5'UTR	0,1,1				p.S298S	NM_004970	NP_004961			0,1,1	ALS_HUMAN	IGFALS	HGNC	P35858	ALS_HUMAN					2	975	-			UPI000000088A	298			LRR 10.		SNV	IGFALS,synonymous_variant,p.=,ENST00000415638,NM_001146006.1,NM_004970.2;IGFALS,synonymous_variant,p.=,ENST00000215539,;SPSB3,intron_variant,,ENST00000569769,;NUBP2,downstream_gene_variant,,ENST00000262302,NM_012225.2;NUBP2,downstream_gene_variant,,ENST00000565987,NM_001284501.1;NUBP2,downstream_gene_variant,,ENST00000543305,;NUBP2,downstream_gene_variant,,ENST00000568706,;HAGH,downstream_gene_variant,,ENST00000564445,;NUBP2,downstream_gene_variant,,ENST00000568287,;NUBP2,downstream_gene_variant,,ENST00000565134,;NUBP2,downstream_gene_variant,,ENST00000562263,;IGFALS,downstream_gene_variant,,ENST00000568221,;NUBP2,downstream_gene_variant,,ENST00000563136,;NUBP2,downstream_gene_variant,,ENST00000563821,;NUBP2,downstream_gene_variant,,ENST00000567700,;NUBP2,downstream_gene_variant,,ENST00000568834,NM_001284502.1;NUBP2,downstream_gene_variant,,ENST00000565603,;NUBP2,downstream_gene_variant,,ENST00000564227,;NUBP2,downstream_gene_variant,,ENST00000566090,;NUBP2,downstream_gene_variant,,ENST00000569898,;NUBP2,downstream_gene_variant,,ENST00000566447,;	uc002cmy.2	c.894C>T	1005/2116	2	2			c.894C>T						16	SNP	c.(892-894)TCC>TCT	46	46				0	Broad	insulin-like growth factor binding protein, acid			1841525		0.687	ENSG00000099769	7446	g.chr16:1841525G>A	cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding							15.072633	KEEP	1	4	-1	4	6	1	4	-1	15.145455	4	6	0.416667	1	0	0	0	0	0	0	1	0	--	--		0	A			IGFALS_uc010uvn.1_Silent_p.S336S|IGFALS_uc010uvo.1_5'UTR	229	GBM-32-1977-TP	p.S298S	G	TGGCGTTGTGGGACAGCCGCA	NM_004970	NP_004961	1841525	P35858	ALS_HUMAN	0			2	975	-	A	A			Silent	298			LRR 10.			
IGFBP1	3484	broad.mit.edu	GRCh37	7	45932660	45932660	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275525.3:c.750C>T	p.Asn250=	p.N250=	ENST00000275525	NM_000596.2	250	aaC/aaT	0			1			T	N	uc003tnp.2	protein_coding	YES	CCDS5504.1			750/780									lung(1)	1	c.(748-750)AAC>AAT			Pfam_domain:PF00086,PROSITE_profiles:PS51162,hmmpanther:PTHR11551,hmmpanther:PTHR11551:SF6,SMART_domains:SM00211,Superfamily_domains:SSF57610	insulin-like growth factor binding protein 1				ENSP00000275525		4-Apr									COSM3412102	4-Apr	.		ENST00000275525	Transcript				extracellular space	insulin-like growth factor binding	ENSG00000146678	g.chr7:45932660C>T	5469			LOW								--	--	1																																		IGFBP1_uc003tno.3_Silent_p.N248N|IGFBP1_uc010kyn.2_Silent_p.N207N	1	1			p.N250N	NM_000596	NP_000587			1	IBP1_HUMAN	IGFBP1	HGNC	P08833	IBP1_HUMAN			C1K3N3_HUMAN		4	1043	+			UPI000012D10E	250			Thyroglobulin type-1.		SNV	IGFBP1,synonymous_variant,p.=,ENST00000275525,NM_000596.2;IGFBP1,synonymous_variant,p.=,ENST00000457280,;IGFBP1,synonymous_variant,p.=,ENST00000468955,;	uc003tnp.2	c.750C>T	1046/1653	2	2			c.750C>T						7	SNP	c.(748-750)AAC>AAT	46	46			lung(1)	1	Broad	insulin-like growth factor binding protein 1			45932660		0.433	ENSG00000146678	7447	g.chr7:45932660C>T		extracellular space	insulin-like growth factor binding							-26.670621	KEEP	3	2	-1	81	102	3	2	-1	10.399162	81	102	0.032258	1	0	0	0	0	0	0	1	0	--	--		0	T			IGFBP1_uc003tno.3_Silent_p.N248N|IGFBP1_uc010kyn.2_Silent_p.N207N	5	GBM-02-2470-TP	p.N250N	C	GAGACCCCAACTGCCAGATAT	NM_000596	NP_000587	45932660	P08833	IBP1_HUMAN	0			4	1043	+	T	T			Silent	250			Thyroglobulin type-1.			
IGFBP1	3484	broad.mit.edu	GRCh37	7	45930223	45930223	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6390-01	TCGA-06-6390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275525.3:c.426C>T	p.Ala142=	p.A142=	ENST00000275525	NM_000596.2	142	gcC/gcT	0			1			T	A	uc003tnp.2	protein_coding	YES	CCDS5504.1			426/780									lung(1)	1	c.(424-426)GCC>GCT			hmmpanther:PTHR11551,hmmpanther:PTHR11551:SF6	insulin-like growth factor binding protein 1				ENSP00000275525		4-Feb									COSM2153428	4-Feb	.		ENST00000275525	Transcript				extracellular space	insulin-like growth factor binding	ENSG00000146678	g.chr7:45930223C>T	5469			LOW								--	--	1																																OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	IGFBP1_uc003tno.3_Silent_p.A142A|IGFBP1_uc010kyn.2_Silent_p.A142A	1	1			p.A142A	NM_000596	NP_000587			1	IBP1_HUMAN	IGFBP1	HGNC	P08833	IBP1_HUMAN			C1K3N3_HUMAN		2	719	+			UPI000012D10E	142					SNV	IGFBP1,synonymous_variant,p.=,ENST00000275525,NM_000596.2;IGFBP1,synonymous_variant,p.=,ENST00000457280,;IGFBP1,synonymous_variant,p.=,ENST00000468955,;	uc003tnp.2	c.426C>T	722/1653	2	2			c.426C>T						7	SNP	c.(424-426)GCC>GCT	30	30			lung(1)	1	Broad	insulin-like growth factor binding protein 1			45930223		0.517	ENSG00000146678	7447	g.chr7:45930223C>T		extracellular space	insulin-like growth factor binding							97.58801	KEEP	12	29	-1	75	77	12	29	-1	111.459458	75	77	0.213115	1	0	0	0	0	0	0	1	0	--	--		0	T	OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	IGFBP1_uc003tno.3_Silent_p.A142A|IGFBP1_uc010kyn.2_Silent_p.A142A	106	GBM-06-6390-TP	p.A142A	C	ATCTGATGGCCCCTTCTGAAG	NM_000596	NP_000587	45930223	P08833	IBP1_HUMAN	0			2	719	+	T	T			Silent	142						
IGFBP3	0	broad.mit.edu	GRCh37	7	45956872	45956872	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275521.6:c.570C>T	p.Tyr190=	p.Y190=	ENST00000275521	NM_001013398.1	190	taC/taT	0			1			A	Y	uc003tns.2	protein_coding		CCDS5505.1			570/876									large_intestine(2)|lung(1)	3	c.(568-570)TAC>TAT			hmmpanther:PTHR11551:SF3,hmmpanther:PTHR11551	insulin-like growth factor binding protein 3	Mecasermin(DB01277)			ENSP00000275521		5-Feb	8.24E-06							6.06E-05	rs766767739,COSM1568953	5-Feb	.		ENST00000275521	Transcript			negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity	ENSG00000146674	g.chr7:45956872G>A	5472			LOW								--	--	1																																OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	IGFBP3_uc003tnq.2_RNA|IGFBP3_uc003tnr.2_Silent_p.Y196Y|IGFBP3_uc003tnt.2_Silent_p.Y93Y	0,1				p.Y190Y	NM_000598	NP_000589			0,1	IBP3_HUMAN	IGFBP3	HGNC	P17936	IBP3_HUMAN			B3KPF0_HUMAN,B4DN53_HUMAN		2	702	-			UPI000013DA64	190					SNV	IGFBP3,synonymous_variant,p.=,ENST00000275521,NM_001013398.1,NM_000598.4;IGFBP3,synonymous_variant,p.=,ENST00000381086,;IGFBP3,synonymous_variant,p.=,ENST00000381083,;IGFBP3,synonymous_variant,p.=,ENST00000428530,;IGFBP3,synonymous_variant,p.=,ENST00000417621,;IGFBP3,synonymous_variant,p.=,ENST00000448817,;IGFBP3,non_coding_transcript_exon_variant,,ENST00000465642,;IGFBP3,non_coding_transcript_exon_variant,,ENST00000460477,;IGFBP3,upstream_gene_variant,,ENST00000460209,;	uc003tns.2	c.570C>T	704/2262	2	2			c.570C>T						7	SNP	c.(568-570)TAC>TAT	25	25			large_intestine(2)|lung(1)	3	Broad	insulin-like growth factor binding protein 3		Mecasermin(DB01277)	45956872		0.502	ENSG00000146674	7449	g.chr7:45956872G>A	negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity							370.334571	KEEP	80	68	-1	151	167	80	68	-1	381.425614	151	167	0.325183	1	0	0	0	0	0	0	1	0	--	--		0	A	OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	IGFBP3_uc003tnq.2_RNA|IGFBP3_uc003tnr.2_Silent_p.Y196Y|IGFBP3_uc003tnt.2_Silent_p.Y93Y	271	GBM-76-4932-TP	p.Y190Y	G	TCTGAGACTCGTAGTCAACTT	NM_000598	NP_000589	45956872	P17936	IBP3_HUMAN	0			2	702	-	A	A			Silent	190						
IGFL1	0	broad.mit.edu	GRCh37	19	46733408	46733408	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6698-01	TCGA-06-6698-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000437936.1:c.69C>T	p.His23=	p.H23=	ENST00000437936	NM_198541.1	23	caC/caT	0			1			T	H	uc002pee.2	protein_coding	YES	CCDS46123.1			69/333										0	c.(67-69)CAC>CAT			Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM	IGF-like family member 1 precursor				ENSP00000415823		4-Feb	8.27E-06		8.64E-05						rs758857747,COSM3404400	4-Feb	.		ENST00000437936	Transcript				extracellular space	protein binding	ENSG00000188293	g.chr19:46733408C>T	24093			LOW								--	--	1																																			0,1	1			p.H23H	NM_198541	NP_940943			0,1	IGFL1_HUMAN	IGFL1	HGNC	Q6UW32	IGFL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201)			2	92	+		Ovarian(192;0.0731)|all_neural(266;0.196)	UPI000003C715	23					SNV	IGFL1,synonymous_variant,p.=,ENST00000437936,NM_198541.1;AC006262.10,intron_variant,,ENST00000597337,;	uc002pee.2	c.69C>T	92/769	1	1			c.69C>T						19	SNP	c.(67-69)CAC>CAT	5	5				0	Broad	IGF-like family member 1 precursor			46733408		0.597	ENSG00000188293	7455	g.chr19:46733408C>T		extracellular space	protein binding							-15.32155	KEEP	10	5	-1	101	99	10	5	-1	21.158769	101	99	0.060773	1	0	0	0	0	0	0	1	0	--	--		0	T				112	GBM-06-6698-TP	p.H23H	C	TCTGCTCACACGGAGCCCCAG	NM_198541	NP_940943	46733408	Q6UW32	IGFL1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201)	2	92	+	T	T		Ovarian(192;0.0731)|all_neural(266;0.196)	Silent	23						
IGFL3	388555		GRCh37	19	46627409	46627409	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000341415.2:c.84T>A	p.Ala28=	p.A28=	ENST00000341415	NM_207393.1	28	gcT/gcA	0																																																																																																																																																																																																																																												
IGFLR1	0	broad.mit.edu	GRCh37	19	36230669	36230669	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-1830-01	TCGA-27-1830-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000246532.1:c.663C>T	p.Gly221=	p.G221=	ENST00000246532	NM_024660.2	221	ggC/ggT	0	A:0.0002		1			A	G	uc002obc.2	protein_coding		CCDS12472.1			663/1068										0	c.(661-663)GGC>GGT			hmmpanther:PTHR14657	transmembrane protein 149 precursor			A:0	ENSP00000246532		5-Apr	1.65E-05	0.000201							rs377303186,COSM3404143	5-Apr	.		ENST00000246532	Transcript				integral to membrane|plasma membrane	protein binding|receptor activity	ENSG00000126246	g.chr19:36230669G>A	23620			LOW								--	--	1																																		TMEM149_uc002obb.2_Intron|TMEM149_uc002obd.3_Silent_p.G221G|TMEM149_uc010xsy.1_RNA|TMEM149_uc010eej.2_Silent_p.G301G	0,1				p.G221G	NM_024660	NP_078936			0,1	IGFR1_HUMAN	IGFLR1	HGNC	Q9H665	IGFR1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		K7ESC2_HUMAN		4	764	-	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		UPI0000049B26	221			Cytoplasmic (Potential).		SNV	IGFLR1,missense_variant,p.Ala58Val,ENST00000591748,;IGFLR1,splice_region_variant,p.=,ENST00000588992,;IGFLR1,synonymous_variant,p.=,ENST00000592537,;IGFLR1,synonymous_variant,p.=,ENST00000246532,NM_024660.2;IGFLR1,intron_variant,,ENST00000592889,;IGFLR1,intron_variant,,ENST00000344990,;KMT2B,downstream_gene_variant,,ENST00000420124,;KMT2B,downstream_gene_variant,,ENST00000222270,NM_014727.1;U2AF1L4,downstream_gene_variant,,ENST00000412391,;U2AF1L4,downstream_gene_variant,,ENST00000378975,NM_001040425.1;U2AF1L4,downstream_gene_variant,,ENST00000292879,NM_144987.2;IGFLR1,downstream_gene_variant,,ENST00000591277,;IGFLR1,downstream_gene_variant,,ENST00000586140,;KMT2B,downstream_gene_variant,,ENST00000607650,;IGFLR1,downstream_gene_variant,,ENST00000587101,;U2AF1L4,downstream_gene_variant,,ENST00000588100,;AD000671.6,3_prime_UTR_variant,,ENST00000589807,;IGFLR1,3_prime_UTR_variant,,ENST00000588018,;IGFLR1,3_prime_UTR_variant,,ENST00000592693,;KMT2B,downstream_gene_variant,,ENST00000585476,;U2AF1L4,downstream_gene_variant,,ENST00000588892,;U2AF1L4,downstream_gene_variant,,ENST00000588980,;U2AF1L4,downstream_gene_variant,,ENST00000586476,;U2AF1L4,downstream_gene_variant,,ENST00000590135,;U2AF1L4,downstream_gene_variant,,ENST00000585554,;U2AF1L4,downstream_gene_variant,,ENST00000587987,;U2AF1L4,downstream_gene_variant,,ENST00000592913,;KMT2B,downstream_gene_variant,,ENST00000592092,;U2AF1L4,downstream_gene_variant,,ENST00000591855,;U2AF1L4,downstream_gene_variant,,ENST00000591084,;KMT2B,downstream_gene_variant,,ENST00000586308,;U2AF1L4,downstream_gene_variant,,ENST00000594792,;U2AF1L4,downstream_gene_variant,,ENST00000585771,;U2AF1L4,downstream_gene_variant,,ENST00000591057,;IGFLR1,downstream_gene_variant,,ENST00000589175,;U2AF1L4,downstream_gene_variant,,ENST00000589429,;U2AF1L4,downstream_gene_variant,,ENST00000600296,;U2AF1L4,downstream_gene_variant,,ENST00000601236,;U2AF1L4,downstream_gene_variant,,ENST00000587886,;	uc002obc.2	c.663C>T	761/1194	1	1			c.663C>T						19	SNP	c.(661-663)GGC>GGT	64	64				0	Broad	transmembrane protein 149 precursor			36230669		0.642	ENSG00000126246	15814	g.chr19:36230669G>A		integral to membrane|plasma membrane	protein binding|receptor activity							229.202788	KEEP	43	46	-1	105	105	43	46	-1	238.059773	105	105	0.308824	1	0	0	0	0	0	0	1	0	--	--		0	A			TMEM149_uc002obb.2_Intron|TMEM149_uc002obd.3_Silent_p.G221G|TMEM149_uc010xsy.1_RNA|TMEM149_uc010eej.2_Silent_p.G301G	189	GBM-27-1830-TP	p.G221G	G	TCTCCAGGGCGCCTGGGGAGG	NM_024660	NP_078936	36230669	Q9H665	IGFR1_HUMAN	0	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	764	-	A	A	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		Silent	221			Cytoplasmic (Potential).			
IGFN1	91156		GRCh37	1	201190709	201190709	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000335211.4:c.10036C>T	p.Leu3346Phe	p.L3346F	ENST00000335211	NM_001164586.1	3346	Ctc/Ttc	0																																																																																																																																																																																																																																												
IGHD2-21	28502		GRCh37	14	106357638	106357638	+	upstream_gene_variant	5'Flank	SNP	G	G	A			TCGA-76-6664-01	TCGA-76-6664-01																							ENST00000390572				0																																																																																																																																																																																																																																												
IGHMBP2	3508	broad.mit.edu	GRCh37	11	68704092	68704092	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-2483-01	TCGA-02-2483-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255078.3:c.2144G>A	p.Gly715Asp	p.G715D	ENST00000255078	NM_002180.2	715	gGc/gAc	0			1			A	G/D	uc001ook.1	protein_coding	YES	CCDS8187.1			2144/2982										0	c.(2143-2145)GGC>GAC			hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF140,SMART_domains:SM00393	immunoglobulin mu binding protein 2				ENSP00000255078		13/15									COSM2149127	13/15	.		ENST00000255078	Transcript	1		cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	ENSG00000132740	g.chr11:68704092G>A	5542			MODERATE		1.78	low	getma.org/?cm=msa&ty=f&p=SMBP2_HUMAN&rb=616&re=729&var=G715D	NA	getma.org/?cm=var&var=hg19,11,68704092,G,A&fts=all	G715D	--	--	1																																		IGHMBP2_uc001ool.1_Missense_Mutation_p.G339D|IGHMBP2_uc001oom.1_Missense_Mutation_p.G293D	1	1		benign(0.006)	p.G715D	NM_002180	NP_002171		tolerated(0.57)	1	SMBP2_HUMAN	IGHMBP2	HGNC	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		F5H5K3_HUMAN		13	2246	+			UPI000013CE82	715			SS DNA-binding (By similarity).		SNV	IGHMBP2,missense_variant,p.Gly715Asp,ENST00000255078,NM_002180.2;RP11-757G1.5,downstream_gene_variant,,ENST00000542410,;IGHMBP2,downstream_gene_variant,,ENST00000541229,;IGHMBP2,downstream_gene_variant,,ENST00000568742,;IGHMBP2,downstream_gene_variant,,ENST00000536803,;IGHMBP2,non_coding_transcript_exon_variant,,ENST00000543739,;IGHMBP2,non_coding_transcript_exon_variant,,ENST00000539064,;IGHMBP2,upstream_gene_variant,,ENST00000544521,;IGHMBP2,downstream_gene_variant,,ENST00000537458,;IGHMBP2,downstream_gene_variant,,ENST00000545475,;	uc001ook.1	c.2144G>A	2255/3961	2	2			c.2144G>A						11	SNP	c.(2143-2145)GGC>GAC	42	42				0	Broad	immunoglobulin mu binding protein 2			68704092		0.617	ENSG00000132740	7459	g.chr11:68704092G>A	cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding							47.592649	KEEP	8	12	-1	13	24	8	12	-1	47.799543	13	24	0.421053	1	0	0	0	0	1	0	0	0	--	--		0	A			IGHMBP2_uc001ool.1_Missense_Mutation_p.G339D|IGHMBP2_uc001oom.1_Missense_Mutation_p.G293D	6	GBM-02-2483-TP	p.G715D	G	CTCAACGGAGGCAGCCCAGAG	NM_002180	NP_002171	68704092	P38935	SMBP2_HUMAN	0	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		13	2246	+	A	A			Missense_Mutation	715			SS DNA-binding (By similarity).			
IGJ	0	broad.mit.edu	GRCh37	4	71527860	71527860	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254801.4:c.137G>A	p.Arg46His	p.R46H	ENST00000254801	NM_144646.3	46	cGt/cAt	0			1			T	R/H	uc003hfn.3	protein_coding	YES	CCDS3545.1			137/480										0	c.(136-138)CGT>CAT			hmmpanther:PTHR10070,hmmpanther:PTHR10070:SF2,Pfam_domain:PF15097	immunoglobulin J chain				ENSP00000254801		4-Feb									COSM3409456	4-Feb	.		ENST00000254801	Transcript			immune response	extracellular region	antigen binding	ENSG00000132465	g.chr4:71527860C>T	5713			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=IGJ_HUMAN&rb=1&re=157&var=R46H	NA	getma.org/?cm=var&var=hg19,4,71527860,C,T&fts=all	R46H	--	--	1																																		IGJ_uc010ihz.2_Missense_Mutation_p.R62H	1	1		possibly_damaging(0.591)	p.R46H	NM_144646	NP_653247		deleterious(0.01)	1	IGJ_HUMAN	IGJ	HGNC	P01591	IGJ_HUMAN	Lung(101;0.235)		C9JA05_HUMAN		2	278	-			UPI00000700B2	46					SNV	IGJ,missense_variant,p.Arg46His,ENST00000254801,NM_144646.3;IGJ,missense_variant,p.Arg46His,ENST00000510437,;IGJ,missense_variant,p.Arg55His,ENST00000510614,;IGJ,missense_variant,p.Arg62His,ENST00000543780,;IGJ,missense_variant,p.Arg62His,ENST00000391614,;IGJ,missense_variant,p.Arg46His,ENST00000470866,;ENAM,non_coding_transcript_exon_variant,,ENST00000472903,;ENAM,non_coding_transcript_exon_variant,,ENST00000509221,;	uc003hfn.3	c.137G>A	307/1438	2	2			c.137G>A						4	SNP	c.(136-138)CGT>CAT	25	25				0	Broad	immunoglobulin J chain			71527860		0.383	ENSG00000132465	7460	g.chr4:71527860C>T	immune response	extracellular region	antigen binding							176.429354	KEEP	29	35	-1	36	50	29	35	-1	176.942708	36	50	0.433824	1	0	0	0	0	1	0	0	0	--	--		0	T			IGJ_uc010ihz.2_Missense_Mutation_p.R62H	65	GBM-06-0743-TP	p.R46H	C	TTCGGAAGAACGGATGATCCT	NM_144646	NP_653247	71527860	P01591	IGJ_HUMAN	0	Lung(101;0.235)		2	278	-	T	T			Missense_Mutation	46						
IGSF1	0	broad.mit.edu	GRCh37	X	130416634	130416634	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-28-2509-01	TCGA-28-2509-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361420.3:c.1030C>T	p.Arg344Ter	p.R344*	ENST00000361420		344	Cga/Tga	0			1			A	R/*	uc004ewd.2	protein_coding		CCDS14629.1			1030/4011									ovary(3)|lung(1)|central_nervous_system(1)	5	c.(1030-1032)CGA>TGA			PROSITE_profiles:PS50835,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	immunoglobulin superfamily, member 1 isoform 1				ENSP00000355010		20-Jul									COSM3405971	20-Jul	.		ENST00000361420	Transcript	1		regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	ENSG00000147255	g.chrX:130416634G>A	5948			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,X,130416634,G,A&fts=all	R344*	--	--	1																																		IGSF1_uc004ewe.3_Nonsense_Mutation_p.R333*|IGSF1_uc004ewf.2_Nonsense_Mutation_p.R324*	1				p.R344*	NM_001555	NP_001546			1	IGSF1_HUMAN	IGSF1	HGNC	Q8N6C5	IGSF1_HUMAN					7	1268	-			UPI0000227E76	344			Ig-like C2-type 4.|Extracellular (Potential).		SNV	IGSF1,stop_gained,p.Arg335Ter,ENST00000370904,;IGSF1,stop_gained,p.Arg344Ter,ENST00000370903,NM_001555.4,NM_001170961.1;IGSF1,stop_gained,p.Arg335Ter,ENST00000370910,NM_001170962.1;IGSF1,stop_gained,p.Arg344Ter,ENST00000361420,;IGSF1,downstream_gene_variant,,ENST00000370901,NM_205833.3;IGSF1,downstream_gene_variant,,ENST00000370900,NM_001170963.1;IGSF1,upstream_gene_variant,,ENST00000469836,;	uc004ewd.2	c.1030C>T	1110/4378	5	2			c.1030C>T						23	SNP	c.(1030-1032)CGA>TGA	25	25			ovary(3)|lung(1)|central_nervous_system(1)	5	Broad	immunoglobulin superfamily, member 1 isoform 1			130416634		0.488	ENSG00000147255	7464	g.chrX:130416634G>A	regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding							171.978596	KEEP	35	38	-1	68	108	35	38	-1	179.407671	68	108	0.299517	1	0	0	0	0	0	1	0	0	--	--		0	A			IGSF1_uc004ewe.3_Nonsense_Mutation_p.R333*|IGSF1_uc004ewf.2_Nonsense_Mutation_p.R324*	211	GBM-28-2509-TP	p.R344*	G	ACTGGTCCTCGACACCGTAGG	NM_001555	NP_001546	130416634	Q8N6C5	IGSF1_HUMAN	0			7	1268	-	A	A			Nonsense_Mutation	344			Ig-like C2-type 4.|Extracellular (Potential).			
IGSF1	3547		GRCh37	X	130409145	130409145	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000370903.3:c.3315G>A	p.Lys1105=	p.K1105=	ENST00000370903	NM_001555.4	1105	aaG/aaA	0																																																																																																																																																																																																																																												
IGSF10	285313	broad.mit.edu	GRCh37	3	151166049	151166049	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs116716539	byFrequency;by1000genomes	TCGA-06-5418-01	TCGA-06-5418-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282466.3:c.1720G>A	p.Glu574Lys	p.E574K	ENST00000282466	NM_178822.4	574	Gaa/Aaa	0	T:0.0005	T:0	1	T:0		T	E/K	uc011bod.1	protein_coding	YES	CCDS3160.1			1720/7872									skin(7)|ovary(5)|central_nervous_system(1)	13	c.(1720-1722)GAA>AAA			PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF29	immunoglobulin superfamily, member 10 precursor		T:0	T:0.0012	ENSP00000282466	T:0.004	6-Apr	0.00231	0.00048	0.00156		0.0141	0.00234	0.00881		rs116716539,COSM2153321	6-Apr	common_variant		ENST00000282466	Transcript		T:0.0008	cell differentiation|multicellular organismal development|ossification	extracellular region		ENSG00000152580	g.chr3:151166049C>T	26384			MODERATE		1.955	medium	getma.org/?cm=msa&ty=f&p=IGS10_HUMAN&rb=571&re=661&var=E574K	getma.org/pdb.php?prot=IGS10_HUMAN&from=571&to=661&var=E574K	getma.org/?cm=var&var=hg19,3,151166049,C,T&fts=all	E574K	--	--	1																																			0,1	1		benign(0.242)	p.E574K	NM_178822	NP_849144	T:0	deleterious(0.01)	0,1	IGS10_HUMAN	IGSF10	HGNC	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)				4	1720	-			UPI00001D629A	574			Ig-like C2-type 2.		SNV	IGSF10,missense_variant,p.Glu574Lys,ENST00000282466,NM_178822.4,NM_001178145.1,NM_001178146.1;	uc011bod.1	c.1720G>A	1720/11067	1	1			c.1720G>A						3	SNP	c.(1720-1722)GAA>AAA	5	5			skin(7)|ovary(5)|central_nervous_system(1)	13	Broad	immunoglobulin superfamily, member 10 precursor			151166049		0.413	ENSG00000152580	7465	g.chr3:151166049C>T	cell differentiation|multicellular organismal development|ossification	extracellular region								190.879843	KEEP	36	41	-1	72	86	36	41	-1	196.29707	72	86	0.330189	1	0	0	0	0	1	0	0	0	--	--		0	T				100	GBM-06-5418-TP	p.E574K	C	TGATAGGCTTCGACCAAAGGT	NM_178822	NP_849144	151166049	Q6WRI0	IGS10_HUMAN	0	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	1720	-	T	T			Missense_Mutation	574			Ig-like C2-type 2.			
IGSF3	3321		GRCh37	1	117150591	117150591	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000369483.1:c.1195A>T	p.Asn399Tyr	p.N399Y	ENST00000369483	NM_001542.3	399	Aac/Tac	0																																																																																																																																																																																																																																												
IGSF3	3321		GRCh37	1	117142794	117142794	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000369483.1:c.1858C>T	p.Arg620Trp	p.R620W	ENST00000369483	NM_001542.3	620	Cgg/Tgg	0																																																																																																																																																																																																																																												
IGSF8	0	broad.mit.edu	GRCh37	1	160064843	160064843	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2623-01	TCGA-19-2623-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314485.7:c.258C>T	p.Phe86=	p.F86=	ENST00000314485	NM_052868.4	86	ttC/ttT	0			1			A	F	uc001fva.2	protein_coding		CCDS1195.1			258/1842										0	c.(256-258)TTC>TTT			Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF22,SMART_domains:SM00409,Superfamily_domains:SSF48726	immunoglobulin superfamily, member 8				ENSP00000316664		7-Feb	2.47E-05					4.50E-05			rs745418654,COSM3399882	7-Feb	.		ENST00000314485	Transcript			cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	ENSG00000162729	g.chr1:160064843G>A	17813			LOW								--	--	1																																		IGSF8_uc001fuz.2_Silent_p.F86F|IGSF8_uc009wtf.2_Silent_p.F86F	0,1				p.F86F	NM_052868	NP_443100			0,1	IGSF8_HUMAN	IGSF8	HGNC	Q969P0	IGSF8_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		C9J8Z4_HUMAN		2	303	-	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		UPI0000073CBA	86			Ig-like C2-type 1.|Extracellular (Potential).		SNV	IGSF8,synonymous_variant,p.=,ENST00000368086,;IGSF8,synonymous_variant,p.=,ENST00000314485,NM_052868.4,NM_001206665.2;IGSF8,synonymous_variant,p.=,ENST00000448417,;KCNJ9,downstream_gene_variant,,ENST00000368088,NM_004983.2;IGSF8,non_coding_transcript_exon_variant,,ENST00000460351,;	uc001fva.2	c.258C>T	475/2343	2	2			c.258C>T						1	SNP	c.(256-258)TTC>TTT	41	41				0	Broad	immunoglobulin superfamily, member 8			160064843		0.602	ENSG00000162729	7472	g.chr1:160064843G>A	cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding							-17.299472	KEEP	2	2	-1	67	54	2	2	-1	7.502536	67	54	0.037383	1	0	0	0	0	0	0	1	0	--	--		0	A			IGSF8_uc001fuz.2_Silent_p.F86F|IGSF8_uc009wtf.2_Silent_p.F86F	163	GBM-19-2623-TP	p.F86F	G	CAGCATAGGAGAACTGGGTAT	NM_052868	NP_443100	160064843	Q969P0	IGSF8_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		2	303	-	A	A	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		Silent	86			Ig-like C2-type 1.|Extracellular (Potential).			
IGSF9	0	broad.mit.edu	GRCh37	1	159897140	159897140	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2631-01	TCGA-19-2631-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368094.1:c.3535C>T	p.Leu1179=	p.L1179=	ENST00000368094	NM_001135050.1	1179	Ctg/Ttg	0			1			A	L	uc001fur.2	protein_coding	YES	CCDS44254.1			3535/3540									ovary(2)|central_nervous_system(2)|large_intestine(1)	5	c.(3535-3537)CTG>TTG				immunoglobulin superfamily, member 9 isoform a				ENSP00000357073		21/21									COSM3399880,COSM3399879	21/21	.		ENST00000368094	Transcript				cell junction|integral to membrane|synapse		ENSG00000085552	g.chr1:159897140G>A	18132			LOW								--	--	1																																		IGSF9_uc001fuq.2_Silent_p.L1163L|CCDC19_uc001ful.2_5'Flank|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc001fuo.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Silent_p.L325L	1,1	1			p.L1179L	NM_001135050	NP_001128522			1,1	TUTLA_HUMAN	IGSF9	HGNC	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		Q6XYD8_HUMAN		21	3733	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	UPI000004A10B	1179			PDZ-binding (By similarity).|Cytoplasmic (Potential).		SNV	IGSF9,synonymous_variant,p.=,ENST00000368094,NM_001135050.1;IGSF9,synonymous_variant,p.=,ENST00000361509,NM_020789.3;TAGLN2,upstream_gene_variant,,ENST00000368097,NM_003564.2;TAGLN2,upstream_gene_variant,,ENST00000368096,NM_001277224.1;TAGLN2,upstream_gene_variant,,ENST00000397334,;TAGLN2,upstream_gene_variant,,ENST00000320307,NM_001277223.1;IGSF9,non_coding_transcript_exon_variant,,ENST00000493195,;IGSF9,non_coding_transcript_exon_variant,,ENST00000476102,;IGSF9,non_coding_transcript_exon_variant,,ENST00000496645,;TAGLN2,upstream_gene_variant,,ENST00000478033,;	uc001fur.2	c.3535C>T	3733/4044	1	1			c.3535C>T						1	SNP	c.(3535-3537)CTG>TTG	50	50			ovary(2)|central_nervous_system(2)|large_intestine(1)	5	Broad	immunoglobulin superfamily, member 9 isoform a			159897140		0.607	ENSG00000085552	7473	g.chr1:159897140G>A		cell junction|integral to membrane|synapse								-29.641394	KEEP	4	2	-1	118	90	4	2	-1	7.222557	118	90	0.026846	1	0	0	0	0	0	0	1	0	--	--		0	A			IGSF9_uc001fuq.2_Silent_p.L1163L|CCDC19_uc001ful.2_5'Flank|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc001fuo.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Silent_p.L325L	167	GBM-19-2631-TP	p.L1179L	G	GATGTTCACAGCAGAGTGGCC	NM_001135050	NP_001128522	159897140	Q9P2J2	TUTLA_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.111)		21	3733	-	A	A	all_hematologic(112;0.0597)	Breast(1374;0.000126)	Silent	1179			PDZ-binding (By similarity).|Cytoplasmic (Potential).			
IHH	3549		GRCh37	2	219920384	219920384	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000295731.6:c.781G>A	p.Glu261Lys	p.E261K	ENST00000295731	NM_002181.3	261	Gag/Aag	0																																																																																																																																																																																																																																												
IK	0	broad.mit.edu	GRCh37	5	140033536	140033536	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-28-5214-01	TCGA-28-5214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000417647.2:c.418delG	p.Ala140GlnfsTer7	p.A140Qfs*7	ENST00000417647	NM_006083.3	140	Gca/ca	0			1			-	A/X	uc003lgq.2	protein_coding	YES	CCDS47280.1			418/1674									large_intestine(1)	1	c.(418-420)GCAfs			Pfam_domain:PF07808,hmmpanther:PTHR22840,hmmpanther:PTHR22840:SF2	RED protein				ENSP00000396301		20-Jun										20-Jun	.		ENST00000417647	Transcript			cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction		ENSG00000113141	g.chr5:140033536delG	5958			HIGH								--	--	1																																		IK_uc011czk.1_Frame_Shift_Del_p.A140fs		1			p.A140fs	NM_006083	NP_006074				RED_HUMAN	IK	HGNC	Q13123	RED_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		E7EQZ7_HUMAN,B4DEH2_HUMAN		6	528	+		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	UPI0000378337	140					deletion	IK,frameshift_variant,p.Ala140GlnfsTer7,ENST00000417647,NM_006083.3;IK,frameshift_variant,p.Ala140GlnfsTer7,ENST00000508301,;IK,frameshift_variant,p.Ala140GlnfsTer7,ENST00000502899,;IK,downstream_gene_variant,,ENST00000513256,;IK,downstream_gene_variant,,ENST00000507593,;IK,downstream_gene_variant,,ENST00000523672,;IK,downstream_gene_variant,,ENST00000503332,;IK,downstream_gene_variant,,ENST00000512827,;	uc003lgq.2	c.418delG	557/1962	5	5			c.418delG						5	DEL	c.(418-420)GCAfs	11	11			large_intestine(1)	1	Broad	RED protein			140033536		0.328	ENSG00000113141	7476	g.chr5:140033536delG	cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction																					0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			IK_uc011czk.1_Frame_Shift_Del_p.A140fs	221	GBM-28-5214-TP	p.A140fs	G	CAAATCAGCTGCAGAGAAGAG	NM_006083	NP_006074	140033536	Q13123	RED_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	528	+	-	-		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	Frame_Shift_Del	140						
IKBIP	0	broad.mit.edu	GRCh37	12	99007867	99007867	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-32-4209-01	TCGA-32-4209-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342502.2:c.549A>G	p.Ser183=	p.S183=	ENST00000342502	NM_201612.2	183	tcA/tcG	0			1			C	S	uc001tfv.2	protein_coding		CCDS9067.1			549/1053										0	c.(547-549)TCA>TCG			hmmpanther:PTHR21734	IKK interacting protein isoform 2				ENSP00000343471		3-Mar									COSM3399207	3-Mar	.		ENST00000342502	Transcript			induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding	ENSG00000166130	g.chr12:99007867T>C	26430			LOW								--	--	1																																		IKBIP_uc001tfw.2_3'UTR	1	1			p.S183S	NM_201612	NP_963906			1	IKIP_HUMAN	IKBIP	HGNC	Q70UQ0	IKIP_HUMAN					3	659	-			UPI00001FB351	183					SNV	IKBIP,synonymous_variant,p.=,ENST00000342502,NM_201612.2;IKBIP,synonymous_variant,p.=,ENST00000420861,;IKBIP,3_prime_UTR_variant,,ENST00000393042,NM_201613.2;	uc001tfv.2	c.549A>G	961/1645	3	3			c.549A>G						12	SNP	c.(547-549)TCA>TCG	64	64				0	Broad	IKK interacting protein isoform 2			99007867		0.308	ENSG00000166130	7477	g.chr12:99007867T>C	induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding							-29.640152	KEEP	1	3	-1	70	89	1	3	-1	8.369178	70	89	0.026144	1	0	0	0	0	0	0	1	0	--	--		0	C			IKBIP_uc001tfw.2_3'UTR	244	GBM-32-4209-TP	p.S183S	T	TTACTAAACCTGAAATCCGTC	NM_201612	NP_963906	99007867	Q70UQ0	IKIP_HUMAN	0			3	659	-	C	C			Silent	183						
IKBKB	0	broad.mit.edu	GRCh37	8	42163910	42163910	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6282-01	TCGA-76-6282-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000520810.1:c.527G>A	p.Gly176Asp	p.G176D	ENST00000520810	NM_001556.2	176	gGc/gAc	0			1			A	G/D	uc003xow.1	protein_coding	YES	CCDS6128.1			527/2271									breast(3)|ovary(2)|lung(1)|skin(1)	7	c.(526-528)GGC>GAC			Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR22969:SF7,hmmpanther:PTHR22969,PROSITE_profiles:PS50011	inhibitor of nuclear factor kappa B kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)			ENSP00000430684		22-Jul									COSM3413029	22-Jul	.		ENST00000520810	Transcript	1		anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	ENSG00000104365	g.chr8:42163910G>A	5960			MODERATE		1.315	low	getma.org/?cm=msa&ty=f&p=IKKB_HUMAN&rb=15&re=296&var=G176D	getma.org/pdb.php?prot=IKKB_HUMAN&from=15&to=296&var=G176D	getma.org/?cm=var&var=hg19,8,42163910,G,A&fts=all	G176D	--	--	1																																		IKBKB_uc003xov.2_Missense_Mutation_p.G176D|IKBKB_uc010lxh.1_Missense_Mutation_p.G71D|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Intron|IKBKB_uc003xox.1_5'UTR|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Missense_Mutation_p.G174D|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.G117D	1	1		possibly_damaging(0.745)	p.G176D	NM_001556	NP_001547		deleterious(0.03)	1	IKKB_HUMAN	IKBKB	HGNC	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		E5RGW5_HUMAN		7	704	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	UPI0000033729	176			Protein kinase.		SNV	IKBKB,missense_variant,p.Gly176Asp,ENST00000520810,NM_001556.2;IKBKB,missense_variant,p.Gly117Asp,ENST00000416505,NM_001242778.1;IKBKB,missense_variant,p.Gly174Asp,ENST00000520835,NM_001190720.2;IKBKB,missense_variant,p.Gly176Asp,ENST00000519735,;IKBKB,intron_variant,,ENST00000379708,;IKBKB,intron_variant,,ENST00000522147,;IKBKB,missense_variant,p.Gly176Asp,ENST00000520655,;IKBKB,missense_variant,p.Gly176Asp,ENST00000523517,;IKBKB,missense_variant,p.Gly176Asp,ENST00000521661,;IKBKB,3_prime_UTR_variant,,ENST00000342222,;IKBKB,3_prime_UTR_variant,,ENST00000517890,;IKBKB,3_prime_UTR_variant,,ENST00000523105,;IKBKB,3_prime_UTR_variant,,ENST00000517388,;IKBKB,3_prime_UTR_variant,,ENST00000519733,;IKBKB,non_coding_transcript_exon_variant,,ENST00000520201,;IKBKB,non_coding_transcript_exon_variant,,ENST00000517917,;IKBKB,non_coding_transcript_exon_variant,,ENST00000518647,;IKBKB,intron_variant,,ENST00000518679,;IKBKB,downstream_gene_variant,,ENST00000520320,;IKBKB,downstream_gene_variant,,ENST00000517812,;	uc003xow.1	c.527G>A	713/3086	1	1			c.527G>A						8	SNP	c.(526-528)GGC>GAC	53	53			breast(3)|ovary(2)|lung(1)|skin(1)	7	Broad	inhibitor of nuclear factor kappa B kinase beta		Arsenic trioxide(DB01169)|Auranofin(DB00995)	42163910		0.478	ENSG00000104365	7479	g.chr8:42163910G>A	anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			402			402	-2.414495	KEEP	2	2	-1	24	25	2	2	-1	6.617441	24	25	0.065217	1	0	0	0	0	1	0	0	0	--	--		0	A			IKBKB_uc003xov.2_Missense_Mutation_p.G176D|IKBKB_uc010lxh.1_Missense_Mutation_p.G71D|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Intron|IKBKB_uc003xox.1_5'UTR|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Missense_Mutation_p.G174D|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.G117D	278	GBM-76-6282-TP	p.G176D	G	CTGGATCAGGGCAGTCTTTGC	NM_001556	NP_001547	42163910	O14920	IKKB_HUMAN	0	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		7	704	+	A	A	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Missense_Mutation	176			Protein kinase.			
IKZF1	10320	broad.mit.edu	GRCh37	7	50468038	50468038	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331340.3:c.1273G>A	p.Gly425Arg	p.G425R	ENST00000331340	NM_006060.4	425	Ggg/Agg	0			1			A	G/R	uc003tow.3	protein_coding					1273/1560	D				ALL				haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	c.(1273-1275)GGG>AGG			hmmpanther:PTHR24404:SF23,hmmpanther:PTHR24404	zinc finger protein, subfamily 1A, 1 (Ikaros)				ENSP00000331614		8-Aug									COSM3412142	8-Aug	.		ENST00000331340	Transcript	1		cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	ENSG00000185811	g.chr7:50468038G>A	13176			MODERATE								--	--	1																																		IKZF1_uc003tox.3_Missense_Mutation_p.G383R|IKZF1_uc003toy.3_Missense_Mutation_p.G383R|IKZF1_uc011kck.1_Missense_Mutation_p.G338R|IKZF1_uc003toz.3_Missense_Mutation_p.G395R|IKZF1_uc010kyx.2_Missense_Mutation_p.G165R|IKZF1_uc003tpa.3_Missense_Mutation_p.G167R	1			probably_damaging(0.997)	p.G425R	NM_006060	NP_006051		deleterious(0.04)	1	IKZF1_HUMAN	IKZF1	HGNC	Q13422	IKZF1_HUMAN					9	1441	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	UPI000012D465	425	PHARNGL -> RRAQRV (in Ref. 2; AAB50683).				SNV	IKZF1,missense_variant,p.Gly425Arg,ENST00000331340,NM_006060.4,NM_001220772.1,NM_001220775.1,NM_001220773.1,NM_001220769.1;IKZF1,missense_variant,p.Gly338Arg,ENST00000343574,NM_001220772.1,NM_001220775.1,NM_001220773.1,NM_001220769.1,NM_001220766.1;IKZF1,missense_variant,p.Gly338Arg,ENST00000357364,NM_001220768.1;IKZF1,missense_variant,p.Gly282Arg,ENST00000349824,NM_001220767.1,NM_001220776.1,NM_001220774.1,NM_001220770.1,NM_001220771.1;IKZF1,missense_variant,p.Gly195Arg,ENST00000346667,;IKZF1,missense_variant,p.Gly383Arg,ENST00000439701,;IKZF1,missense_variant,p.Gly383Arg,ENST00000359197,;IKZF1,missense_variant,p.Gly338Arg,ENST00000438033,;IKZF1,3_prime_UTR_variant,,ENST00000440768,;IKZF1,downstream_gene_variant,,ENST00000426121,;IKZF1,non_coding_transcript_exon_variant,,ENST00000471793,;	uc003tow.3	c.1273G>A	1428/6189	1	1			c.1273G>A	D				ALL	7	SNP	c.(1273-1275)GGG>AGG	61	61			haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Broad	zinc finger protein, subfamily 1A, 1 (Ikaros)			50468038		0.677	ENSG00000185811	7481	g.chr7:50468038G>A	cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding			226			226	12.031787	KEEP	5	2	-1	24	16	5	2	-1	16.722135	24	16	0.15	1	0	0	0	0	1	0	0	0	--	--		0	A			IKZF1_uc003tox.3_Missense_Mutation_p.G383R|IKZF1_uc003toy.3_Missense_Mutation_p.G383R|IKZF1_uc011kck.1_Missense_Mutation_p.G338R|IKZF1_uc003toz.3_Missense_Mutation_p.G395R|IKZF1_uc010kyx.2_Missense_Mutation_p.G165R|IKZF1_uc003tpa.3_Missense_Mutation_p.G167R	46	GBM-06-0209-TP	p.G425R	G	CGCGCGCAACGGGCTGTCGCT	NM_006060	NP_006051	50468038	Q13422	IKZF1_HUMAN	0			9	1441	+	A	A	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	Missense_Mutation	425	PHARNGL -> RRAQRV (in Ref. 2; AAB50683).					
IKZF1	10320	broad.mit.edu	GRCh37	7	50467932	50467932	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2557-01	TCGA-06-2557-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331340.3:c.1167C>T	p.Ser389=	p.S389=	ENST00000331340	NM_006060.4	389	tcC/tcT	0			1			T	S	uc003tow.3	protein_coding					1167/1560	D				ALL				haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	c.(1165-1167)TCC>TCT			hmmpanther:PTHR24404:SF23,hmmpanther:PTHR24404	zinc finger protein, subfamily 1A, 1 (Ikaros)				ENSP00000331614		8-Aug									COSM3412141	8-Aug	.		ENST00000331340	Transcript	1		cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	ENSG00000185811	g.chr7:50467932C>T	13176			LOW								--	--	1																																		IKZF1_uc003tox.3_Silent_p.S347S|IKZF1_uc003toy.3_Silent_p.S347S|IKZF1_uc011kck.1_Silent_p.S302S|IKZF1_uc003toz.3_Silent_p.S359S|IKZF1_uc010kyx.2_Silent_p.S129S|IKZF1_uc003tpa.3_Silent_p.S131S	1				p.S389S	NM_006060	NP_006051			1	IKZF1_HUMAN	IKZF1	HGNC	Q13422	IKZF1_HUMAN					9	1335	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	UPI000012D465	389					SNV	IKZF1,synonymous_variant,p.=,ENST00000331340,NM_006060.4,NM_001220772.1,NM_001220775.1,NM_001220773.1,NM_001220769.1;IKZF1,synonymous_variant,p.=,ENST00000343574,NM_001220772.1,NM_001220775.1,NM_001220773.1,NM_001220769.1,NM_001220766.1;IKZF1,synonymous_variant,p.=,ENST00000357364,NM_001220768.1;IKZF1,synonymous_variant,p.=,ENST00000349824,NM_001220767.1,NM_001220776.1,NM_001220774.1,NM_001220770.1,NM_001220771.1;IKZF1,synonymous_variant,p.=,ENST00000346667,;IKZF1,synonymous_variant,p.=,ENST00000439701,;IKZF1,synonymous_variant,p.=,ENST00000359197,;IKZF1,synonymous_variant,p.=,ENST00000438033,;IKZF1,3_prime_UTR_variant,,ENST00000440768,;IKZF1,downstream_gene_variant,,ENST00000426121,;IKZF1,non_coding_transcript_exon_variant,,ENST00000471793,;	uc003tow.3	c.1167C>T	1322/6189	1	1			c.1167C>T	D				ALL	7	SNP	c.(1165-1167)TCC>TCT	5	5			haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Broad	zinc finger protein, subfamily 1A, 1 (Ikaros)			50467932		0.672	ENSG00000185811	7481	g.chr7:50467932C>T	cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding			226			226	11.422858	KEEP	5	2	-1	16	20	5	2	-1	16.351232	16	20	0.146341	1	0	0	0	0	0	0	1	0	--	--		0	T			IKZF1_uc003tox.3_Silent_p.S347S|IKZF1_uc003toy.3_Silent_p.S347S|IKZF1_uc011kck.1_Silent_p.S302S|IKZF1_uc003toz.3_Silent_p.S359S|IKZF1_uc010kyx.2_Silent_p.S129S|IKZF1_uc003tpa.3_Silent_p.S131S	81	GBM-06-2557-TP	p.S389S	C	GCGAGGCGTCCCCGAGCAACA	NM_006060	NP_006051	50467932	Q13422	IKZF1_HUMAN	0			9	1335	+	T	T	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	Silent	389						
IKZF1	0	broad.mit.edu	GRCh37	7	50468241	50468241	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-19-5955-01	TCGA-19-5955-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331340.3:c.1476C>A	p.Cys492Ter	p.C492*	ENST00000331340	NM_006060.4	492	tgC/tgA	0			1			A	C/*	uc003tow.3	protein_coding					1476/1560	D				ALL				haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	c.(1474-1476)TGC>TGA			hmmpanther:PTHR24404:SF23,hmmpanther:PTHR24404,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein, subfamily 1A, 1 (Ikaros)				ENSP00000331614		8-Aug									COSM3412143	8-Aug	.		ENST00000331340	Transcript	1		cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	ENSG00000185811	g.chr7:50468241C>A	13176			HIGH								--	--	1																																		IKZF1_uc003tox.3_Nonsense_Mutation_p.C450*|IKZF1_uc003toy.3_Nonsense_Mutation_p.C450*|IKZF1_uc011kck.1_Nonsense_Mutation_p.C405*|IKZF1_uc003toz.3_Nonsense_Mutation_p.C462*|IKZF1_uc010kyx.2_Nonsense_Mutation_p.C232*|IKZF1_uc003tpa.3_Nonsense_Mutation_p.C234*	1				p.C492*	NM_006060	NP_006051			1	IKZF1_HUMAN	IKZF1	HGNC	Q13422	IKZF1_HUMAN					9	1644	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	UPI000012D465	492			C2H2-type 6.		SNV	IKZF1,stop_gained,p.Cys492Ter,ENST00000331340,NM_006060.4,NM_001220772.1,NM_001220775.1,NM_001220773.1,NM_001220769.1;IKZF1,stop_gained,p.Cys405Ter,ENST00000357364,NM_001220768.1;IKZF1,stop_gained,p.Cys405Ter,ENST00000343574,NM_001220772.1,NM_001220775.1,NM_001220773.1,NM_001220769.1,NM_001220766.1;IKZF1,stop_gained,p.Cys349Ter,ENST00000349824,NM_001220767.1,NM_001220776.1,NM_001220774.1,NM_001220770.1,NM_001220771.1;IKZF1,stop_gained,p.Cys262Ter,ENST00000346667,;IKZF1,stop_gained,p.Cys450Ter,ENST00000439701,;IKZF1,stop_gained,p.Cys450Ter,ENST00000359197,;IKZF1,stop_gained,p.Cys405Ter,ENST00000438033,;IKZF1,3_prime_UTR_variant,,ENST00000440768,;IKZF1,downstream_gene_variant,,ENST00000426121,;IKZF1,non_coding_transcript_exon_variant,,ENST00000471793,;	uc003tow.3	c.1476C>A	1631/6189	5	1			c.1476C>A	D				ALL	7	SNP	c.(1474-1476)TGC>TGA	64	64			haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Broad	zinc finger protein, subfamily 1A, 1 (Ikaros)			50468241		0.592	ENSG00000185811	7481	g.chr7:50468241C>A	cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding			226			226	5.526046	KEEP	3	3	0.5	23	34	3	3	0.5	14.087216	23	34	0.107143	1	0	0	0	0	0	1	0	0	--	--		0	A			IKZF1_uc003tox.3_Nonsense_Mutation_p.C450*|IKZF1_uc003toy.3_Nonsense_Mutation_p.C450*|IKZF1_uc011kck.1_Nonsense_Mutation_p.C405*|IKZF1_uc003toz.3_Nonsense_Mutation_p.C462*|IKZF1_uc010kyx.2_Nonsense_Mutation_p.C232*|IKZF1_uc003tpa.3_Nonsense_Mutation_p.C234*	175	GBM-19-5955-TP	p.C492*	C	CTTTTGAGTGCAACATGTGCG	NM_006060	NP_006051	50468241	Q13422	IKZF1_HUMAN	0			9	1644	+	A	A	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	Nonsense_Mutation	492			C2H2-type 6.			
IKZF1	0	broad.mit.edu	GRCh37	7	50450397	50450397	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5133-01	TCGA-26-5133-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331340.3:c.581C>T	p.Thr194Met	p.T194M	ENST00000331340	NM_006060.4	194	aCg/aTg	0			1			T	T/M	uc003tow.3	protein_coding					581/1560	D				ALL			p.?(74)	haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	c.(580-582)ACG>ATG			PROSITE_profiles:PS50157,hmmpanther:PTHR24404:SF23,hmmpanther:PTHR24404,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein, subfamily 1A, 1 (Ikaros)				ENSP00000331614		8-May									COSM3265417	8-May	.		ENST00000331340	Transcript	1		cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	ENSG00000185811	g.chr7:50450397C>T	13176			MODERATE								--	--	1																																		IKZF1_uc003tox.3_Missense_Mutation_p.T194M|IKZF1_uc003toy.3_Missense_Mutation_p.T194M|IKZF1_uc011kck.1_Missense_Mutation_p.T107M|IKZF1_uc003toz.3_Missense_Mutation_p.T164M|IKZF1_uc010kyx.2_Intron	1			probably_damaging(0.999)	p.T194M	NM_006060	NP_006051		deleterious(0)	1	IKZF1_HUMAN	IKZF1	HGNC	Q13422	IKZF1_HUMAN					6	749	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	UPI000012D465	194			C2H2-type 3.|Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity).		SNV	IKZF1,missense_variant,p.Thr194Met,ENST00000331340,NM_006060.4,NM_001220772.1,NM_001220775.1,NM_001220773.1,NM_001220769.1;IKZF1,missense_variant,p.Thr107Met,ENST00000343574,NM_001220772.1,NM_001220775.1,NM_001220773.1,NM_001220769.1,NM_001220766.1;IKZF1,missense_variant,p.Thr194Met,ENST00000357364,NM_001220768.1;IKZF1,missense_variant,p.Thr194Met,ENST00000439701,;IKZF1,missense_variant,p.Thr194Met,ENST00000359197,;IKZF1,missense_variant,p.Thr194Met,ENST00000440768,;IKZF1,missense_variant,p.Thr107Met,ENST00000438033,;IKZF1,intron_variant,,ENST00000349824,NM_001220767.1,NM_001220776.1,NM_001220774.1,NM_001220770.1,NM_001220771.1;IKZF1,intron_variant,,ENST00000346667,;IKZF1,intron_variant,,ENST00000426121,;IKZF1,non_coding_transcript_exon_variant,,ENST00000471793,;	uc003tow.3	c.581C>T	736/6189	1	1			c.581C>T	D				ALL	7	SNP	c.(580-582)ACG>ATG	7	7		p.?(74)	haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Broad	zinc finger protein, subfamily 1A, 1 (Ikaros)			50450397		0.657	ENSG00000185811	7481	g.chr7:50450397C>T	cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding			226			226	7.853056	KEEP	3	3	-1	24	13	3	3	-1	11.921994	24	13	0.147059	1	0	0	0	0	1	0	0	0	--	--		0	T			IKZF1_uc003tox.3_Missense_Mutation_p.T194M|IKZF1_uc003toy.3_Missense_Mutation_p.T194M|IKZF1_uc011kck.1_Missense_Mutation_p.T107M|IKZF1_uc003toz.3_Missense_Mutation_p.T164M|IKZF1_uc010kyx.2_Intron	182	GBM-26-5133-TP	p.T194M	C	CACCTGAGGACGCACTCCGGT	NM_006060	NP_006051	50450397	Q13422	IKZF1_HUMAN	0			6	749	+	T	T	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	Missense_Mutation	194			C2H2-type 3.|Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity).			
IKZF1	0	broad.mit.edu	GRCh37	7	50467929	50467929	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331340.3:c.1164G>A	p.Ala388=	p.A388=	ENST00000331340	NM_006060.4	388	gcG/gcA	0			1			A	A	uc003tow.3	protein_coding					1164/1560	D				ALL				haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	c.(1162-1164)GCG>GCA			hmmpanther:PTHR24404:SF23,hmmpanther:PTHR24404	zinc finger protein, subfamily 1A, 1 (Ikaros)				ENSP00000331614		8-Aug	2.48E-05		0.000842						rs776169668,COSM3412140	8-Aug	common_variant		ENST00000331340	Transcript	1		cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	ENSG00000185811	g.chr7:50467929G>A	13176			LOW								--	--	1																																		IKZF1_uc003tox.3_Silent_p.A346A|IKZF1_uc003toy.3_Silent_p.A346A|IKZF1_uc011kck.1_Silent_p.A301A|IKZF1_uc003toz.3_Silent_p.A358A|IKZF1_uc010kyx.2_Silent_p.A128A|IKZF1_uc003tpa.3_Silent_p.A130A	0,1				p.A388A	NM_006060	NP_006051			0,1	IKZF1_HUMAN	IKZF1	HGNC	Q13422	IKZF1_HUMAN					9	1332	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	UPI000012D465	388					SNV	IKZF1,synonymous_variant,p.=,ENST00000331340,NM_006060.4,NM_001220772.1,NM_001220775.1,NM_001220773.1,NM_001220769.1;IKZF1,synonymous_variant,p.=,ENST00000343574,NM_001220772.1,NM_001220775.1,NM_001220773.1,NM_001220769.1,NM_001220766.1;IKZF1,synonymous_variant,p.=,ENST00000357364,NM_001220768.1;IKZF1,synonymous_variant,p.=,ENST00000349824,NM_001220767.1,NM_001220776.1,NM_001220774.1,NM_001220770.1,NM_001220771.1;IKZF1,synonymous_variant,p.=,ENST00000346667,;IKZF1,synonymous_variant,p.=,ENST00000439701,;IKZF1,synonymous_variant,p.=,ENST00000359197,;IKZF1,synonymous_variant,p.=,ENST00000438033,;IKZF1,3_prime_UTR_variant,,ENST00000440768,;IKZF1,downstream_gene_variant,,ENST00000426121,;IKZF1,non_coding_transcript_exon_variant,,ENST00000471793,;	uc003tow.3	c.1164G>A	1319/6189	2	2			c.1164G>A	D				ALL	7	SNP	c.(1162-1164)GCG>GCA	36	36			haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Broad	zinc finger protein, subfamily 1A, 1 (Ikaros)			50467929		0.672	ENSG00000185811	7481	g.chr7:50467929G>A	cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding		p.A388A(WM88-Tumor)	226		p.A388A(WM88-Tumor)	226	10.293742	KEEP	1	3	-1	4	8	1	3	-1	11.031098	4	8	0.266667	1	0	0	0	0	0	0	1	0	--	--		0	A			IKZF1_uc003tox.3_Silent_p.A346A|IKZF1_uc003toy.3_Silent_p.A346A|IKZF1_uc011kck.1_Silent_p.A301A|IKZF1_uc003toz.3_Silent_p.A358A|IKZF1_uc010kyx.2_Silent_p.A128A|IKZF1_uc003tpa.3_Silent_p.A130A	230	GBM-32-1979-TP	p.A388A	G	AGCGCGAGGCGTCCCCGAGCA	NM_006060	NP_006051	50467929	Q13422	IKZF1_HUMAN	0			9	1332	+	A	A	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	Silent	388						
IKZF1	10320		GRCh37	7	50358674	50358674	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000331340.3:c.17G>T	p.Gly6Val	p.G6V	ENST00000331340	NM_006060.4	6	gGt/gTt	0																																																																																																																																																																																																																																												
IKZF3	0	broad.mit.edu	GRCh37	17	37922611	37922611	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01	TCGA-14-3476-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000346872.3:c.962G>A	p.Arg321His	p.R321H	ENST00000346872	NM_012481.4	321	cGc/cAc	0			1			T	R/H	uc002hsu.2	protein_coding	YES	CCDS11346.1			962/1530									lung(2)|kidney(2)|skin(2)	6	c.(961-963)CGC>CAC			hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF29	aiolos isoform 1				ENSP00000344544		8-Aug									COSM3402832	8-Aug	.		ENST00000346872	Transcript			B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000161405	g.chr17:37922611C>T	13178			MODERATE		1.98	medium	getma.org/?cm=msa&ty=f&p=IKZF3_HUMAN&rb=214&re=413&var=R321H	NA	getma.org/?cm=var&var=hg19,17,37922611,C,T&fts=all	R321H	--	--	1																																		IKZF3_uc002htd.2_Missense_Mutation_p.R287H|IKZF3_uc010cwd.2_Missense_Mutation_p.R178H|IKZF3_uc002hsv.2_Missense_Mutation_p.R248H|IKZF3_uc010cwe.2_Missense_Mutation_p.R187H|IKZF3_uc010cwf.2_Missense_Mutation_p.R139H|IKZF3_uc010cwg.2_Missense_Mutation_p.R100H|IKZF3_uc002hsw.2_Missense_Mutation_p.R282H|IKZF3_uc002hsx.2_Missense_Mutation_p.R265H|IKZF3_uc002hsy.2_Missense_Mutation_p.R282H|IKZF3_uc002hsz.2_Missense_Mutation_p.R226H|IKZF3_uc002hta.2_Missense_Mutation_p.R243H|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Missense_Mutation_p.R234H|IKZF3_uc002htc.2_Missense_Mutation_p.R74H|IKZF3_uc010wel.1_Missense_Mutation_p.R74H	1	1		probably_damaging(0.999)	p.R321H	NM_012481	NP_036613		tolerated(0.13)	1	IKZF3_HUMAN	IKZF3	HGNC	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		B4DVV5_HUMAN		8	1024	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UPI000006E6CC	321	R -> C (in Ref. 1; AAF13493 and 2; CAC80427/CAC80428/CAC80429/CAC80430/ CAC80431).				SNV	IKZF3,missense_variant,p.Arg321His,ENST00000346872,NM_012481.4;IKZF3,missense_variant,p.Arg287His,ENST00000535189,NM_001257408.1;IKZF3,missense_variant,p.Arg248His,ENST00000439167,NM_001257409.1;IKZF3,missense_variant,p.Arg234His,ENST00000377958,NM_001257410.1;IKZF3,missense_variant,p.Arg187His,ENST00000377945,NM_001257414.1;IKZF3,missense_variant,p.Arg178His,ENST00000377944,NM_001257411.1;IKZF3,missense_variant,p.Arg139His,ENST00000394189,NM_001257412.1;IKZF3,missense_variant,p.Arg74His,ENST00000583368,;IKZF3,missense_variant,p.Arg100His,ENST00000377952,NM_001257413.1;IKZF3,missense_variant,p.Arg282His,ENST00000351680,NM_183229.2;IKZF3,missense_variant,p.Arg282His,ENST00000350532,NM_183230.2;IKZF3,missense_variant,p.Arg265His,ENST00000467757,NM_183228.2;IKZF3,missense_variant,p.Arg243His,ENST00000346243,NM_183232.2;IKZF3,missense_variant,p.Arg226His,ENST00000439016,NM_183231.2;RP11-94L15.2,upstream_gene_variant,,ENST00000488188,;IKZF3,3_prime_UTR_variant,,ENST00000293068,NM_001284514.1;IKZF3,3_prime_UTR_variant,,ENST00000348427,NM_001284515.1;	uc002hsu.2	c.962G>A	1024/2437	2	2			c.962G>A						17	SNP	c.(961-963)CGC>CAC	44	44			lung(2)|kidney(2)|skin(2)	6	Broad	aiolos isoform 1			37922611		0.547	ENSG00000161405	7483	g.chr17:37922611C>T	B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			312			312	118.932704	KEEP	17	31	-1	47	41	17	31	-1	121.092432	47	41	0.36	1	0	0	0	0	1	0	0	0	--	--		0	T			IKZF3_uc002htd.2_Missense_Mutation_p.R287H|IKZF3_uc010cwd.2_Missense_Mutation_p.R178H|IKZF3_uc002hsv.2_Missense_Mutation_p.R248H|IKZF3_uc010cwe.2_Missense_Mutation_p.R187H|IKZF3_uc010cwf.2_Missense_Mutation_p.R139H|IKZF3_uc010cwg.2_Missense_Mutation_p.R100H|IKZF3_uc002hsw.2_Missense_Mutation_p.R282H|IKZF3_uc002hsx.2_Missense_Mutation_p.R265H|IKZF3_uc002hsy.2_Missense_Mutation_p.R282H|IKZF3_uc002hsz.2_Missense_Mutation_p.R226H|IKZF3_uc002hta.2_Missense_Mutation_p.R243H|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Missense_Mutation_p.R234H|IKZF3_uc002htc.2_Missense_Mutation_p.R74H|IKZF3_uc010wel.1_Missense_Mutation_p.R74H	151	GBM-14-3476-TP	p.R321H	C	GACCAAGGGGCGCAGGGCTTC	NM_012481	NP_036613	37922611	Q9UKT9	IKZF3_HUMAN	0	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		8	1024	-	T	T	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		Missense_Mutation	321	R -> C (in Ref. 1; AAF13493 and 2; CAC80427/CAC80428/CAC80429/CAC80430/ CAC80431).					
IKZF3	0	broad.mit.edu	GRCh37	17	37985642	37985642	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000346872.3:c.161G>C	p.Gly54Ala	p.G54A	ENST00000346872	NM_012481.4	54	gGa/gCa	0			1			G	G/A	uc002hsu.2	protein_coding	YES	CCDS11346.1			161/1530									lung(2)|kidney(2)|skin(2)	6	c.(160-162)GGA>GCA			hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF29	aiolos isoform 1				ENSP00000344544		8-Mar									COSM2156058	8-Mar	.		ENST00000346872	Transcript			B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000161405	g.chr17:37985642C>G	13178			MODERATE		0.255	neutral	getma.org/?cm=msa&ty=f&p=IKZF3_HUMAN&rb=1&re=131&var=G54A	NA	getma.org/?cm=var&var=hg19,17,37985642,C,G&fts=all	G54A	--	--	1																																		IKZF3_uc002htd.2_Intron|IKZF3_uc010cwd.2_Missense_Mutation_p.G54A|IKZF3_uc002hsv.2_Intron|IKZF3_uc010cwe.2_Missense_Mutation_p.G54A|IKZF3_uc010cwf.2_Missense_Mutation_p.G54A|IKZF3_uc010cwg.2_Missense_Mutation_p.G54A|IKZF3_uc002hsw.2_Missense_Mutation_p.G54A|IKZF3_uc002hsx.2_Missense_Mutation_p.G54A|IKZF3_uc002hsy.2_Missense_Mutation_p.G54A|IKZF3_uc002hsz.2_Missense_Mutation_p.G54A|IKZF3_uc002hta.2_Missense_Mutation_p.G54A|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Missense_Mutation_p.G54A|IKZF3_uc002htc.2_5'UTR	1	1		benign(0.002)	p.G54A	NM_012481	NP_036613		tolerated(0.18)	1	IKZF3_HUMAN	IKZF3	HGNC	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		B4DVV5_HUMAN		3	223	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UPI000006E6CC	54					SNV	IKZF3,missense_variant,p.Gly54Ala,ENST00000346872,NM_012481.4;IKZF3,missense_variant,p.Gly54Ala,ENST00000377958,NM_001257410.1;IKZF3,missense_variant,p.Gly54Ala,ENST00000377945,NM_001257414.1;IKZF3,missense_variant,p.Gly54Ala,ENST00000377944,NM_001257411.1;IKZF3,missense_variant,p.Gly54Ala,ENST00000394189,NM_001257412.1;IKZF3,missense_variant,p.Gly54Ala,ENST00000377952,NM_001257413.1;IKZF3,missense_variant,p.Gly54Ala,ENST00000350532,NM_183230.2;IKZF3,missense_variant,p.Gly54Ala,ENST00000351680,NM_183229.2;IKZF3,missense_variant,p.Gly54Ala,ENST00000467757,NM_183228.2;IKZF3,missense_variant,p.Gly54Ala,ENST00000346243,NM_183232.2;IKZF3,missense_variant,p.Gly54Ala,ENST00000439016,NM_183231.2;IKZF3,intron_variant,,ENST00000535189,NM_001257408.1;IKZF3,intron_variant,,ENST00000439167,NM_001257409.1;IKZF3,missense_variant,p.Gly54Ala,ENST00000293068,NM_001284514.1;IKZF3,missense_variant,p.Gly54Ala,ENST00000348427,NM_001284515.1;	uc002hsu.2	c.161G>C	223/2437	3	3			c.161G>C						17	SNP	c.(160-162)GGA>GCA	64	64			lung(2)|kidney(2)|skin(2)	6	Broad	aiolos isoform 1			37985642		0.428	ENSG00000161405	7483	g.chr17:37985642C>G	B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			312			312	128.51659	KEEP	20	37	-1	45	71	20	37	-1	131.444122	45	71	0.330435	1	0	0	0	0	1	0	0	0	--	--		0	G			IKZF3_uc002htd.2_Intron|IKZF3_uc010cwd.2_Missense_Mutation_p.G54A|IKZF3_uc002hsv.2_Intron|IKZF3_uc010cwe.2_Missense_Mutation_p.G54A|IKZF3_uc010cwf.2_Missense_Mutation_p.G54A|IKZF3_uc010cwg.2_Missense_Mutation_p.G54A|IKZF3_uc002hsw.2_Missense_Mutation_p.G54A|IKZF3_uc002hsx.2_Missense_Mutation_p.G54A|IKZF3_uc002hsy.2_Missense_Mutation_p.G54A|IKZF3_uc002hsz.2_Missense_Mutation_p.G54A|IKZF3_uc002hta.2_Missense_Mutation_p.G54A|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Missense_Mutation_p.G54A|IKZF3_uc002htc.2_5'UTR	160	GBM-19-1790-TP	p.G54A	C	CGGCTCACCTCCTATGTCTTC	NM_012481	NP_036613	37985642	Q9UKT9	IKZF3_HUMAN	0	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		3	223	-	G	G	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		Missense_Mutation	54						
IL10	3586	broad.mit.edu	GRCh37	1	206942020	206942020	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0939-01	TCGA-06-0939-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000423557.1:c.498C>T	p.Asn166=	p.N166=	ENST00000423557	NM_000572.2	166	aaC/aaT	0			1			A	N	uc001hen.1	protein_coding	YES	CCDS1467.1			498/537										0	c.(496-498)AAC>AAT			hmmpanther:PTHR11585,hmmpanther:PTHR11585:SF1,Pfam_domain:PF00726,Gene3D:1.20.1250.10,SMART_domains:SM00188,Superfamily_domains:SSF47266	interleukin 10 precursor				ENSP00000412237		5-May									COSM2152401	5-May	.		ENST00000423557	Transcript	1		anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding	ENSG00000136634	g.chr1:206942020G>A	5962			LOW								--	--	1																																			1	1			p.N166N	NM_000572	NP_000563			1	IL10_HUMAN	IL10	HGNC	P22301	IL10_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		Q71UZ1_HUMAN,Q6LBF4_HUMAN,Q6FGW4_HUMAN		5	557	-	Breast(84;0.183)		UPI0000034E50	166					SNV	IL10,synonymous_variant,p.=,ENST00000423557,NM_000572.2;IL10,downstream_gene_variant,,ENST00000471071,;IL10,downstream_gene_variant,,ENST00000367099,;	uc001hen.1	c.498C>T	557/1630	2	2			c.498C>T						1	SNP	c.(496-498)AAC>AAT	45	45				0	Broad	interleukin 10 precursor			206942020		0.413	ENSG00000136634	7486	g.chr1:206942020G>A	anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding							22.550605	KEEP	5	10	-1	23	22	5	10	-1	25.717348	23	22	0.214286	1	0	0	0	0	0	0	1	0	--	--		0	A				78	GBM-06-0939-TP	p.N166N	G	CTTCTATGTAGTTGATGAAGA	NM_000572	NP_000563	206942020	P22301	IL10_HUMAN	0	BRCA - Breast invasive adenocarcinoma(75;0.211)		5	557	-	A	A	Breast(84;0.183)		Silent	166						
IL10RA	0	broad.mit.edu	GRCh37	11	117860220	117860220	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5954-01	TCGA-19-5954-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000227752.3:c.252C>T	p.Thr84=	p.T84=	ENST00000227752	NM_001558.3	84	acC/acT	0			1			T	T	uc001prv.2	protein_coding	YES	CCDS8388.1			252/1737									ovary(1)	1	c.(250-252)ACC>ACT			Superfamily_domains:SSF49265,Gene3D:2.60.40.10,Pfam_domain:PF01108,hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF43	interleukin 10 receptor, alpha precursor				ENSP00000227752		7-Mar	0.000107	9.61E-05				5.99E-05		0.000484	rs763662644,COSM2156776	7-Mar	common_variant		ENST00000227752	Transcript	1			integral to membrane|plasma membrane	interleukin-10 receptor activity	ENSG00000110324	g.chr11:117860220C>T	5964			LOW								--	--	1																																		IL10RA_uc010rxl.1_Silent_p.T64T|IL10RA_uc010rxm.1_Silent_p.T64T|IL10RA_uc010rxn.1_Intron|IL10RA_uc001prw.2_5'UTR	0,1	1			p.T84T	NM_001558	NP_001549			0,1	I10R1_HUMAN	IL10RA	HGNC	Q13651	I10R1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)	F5H5Y4_HUMAN		3	329	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	UPI000013C8BF	84		T -> I (in IBD28).	Extracellular (Potential).		SNV	IL10RA,synonymous_variant,p.=,ENST00000227752,NM_001558.3;IL10RA,synonymous_variant,p.=,ENST00000541785,;IL10RA,intron_variant,,ENST00000545409,;IL10RA,non_coding_transcript_exon_variant,,ENST00000533700,;IL10RA,non_coding_transcript_exon_variant,,ENST00000534335,;IL10RA,3_prime_UTR_variant,,ENST00000534574,;IL10RA,non_coding_transcript_exon_variant,,ENST00000529924,;IL10RA,non_coding_transcript_exon_variant,,ENST00000530761,;IL10RA,non_coding_transcript_exon_variant,,ENST00000531365,;IL10RA,intron_variant,,ENST00000526544,;IL10RA,upstream_gene_variant,,ENST00000530178,;IL10RA,upstream_gene_variant,,ENST00000532009,;	uc001prv.2	c.252C>T	372/3695	2	2			c.252C>T						11	SNP	c.(250-252)ACC>ACT	35	35			ovary(1)	1	Broad	interleukin 10 receptor, alpha precursor			117860220		0.577	ENSG00000110324	7487	g.chr11:117860220C>T		integral to membrane|plasma membrane	interleukin-10 receptor activity							101.554841	KEEP	10	27	-1	34	35	10	27	-1	102.761441	34	35	0.375	1	0	0	0	0	0	0	1	0	--	--		0	T			IL10RA_uc010rxl.1_Silent_p.T64T|IL10RA_uc010rxm.1_Silent_p.T64T|IL10RA_uc010rxn.1_Intron|IL10RA_uc001prw.2_5'UTR	174	GBM-19-5954-TP	p.T84T	C	ATGACCTTACCGCAGTGACCT	NM_001558	NP_001549	117860220	Q13651	I10R1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)	3	329	+	T	T	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	Silent	84		T -> I (in IBD28).	Extracellular (Potential).			
IL12B	3593		GRCh37	5	158743808	158743808	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000231228.2:c.872C>T	p.Thr291Met	p.T291M	ENST00000231228	NM_002187.2	291	aCg/aTg	0																																																																																																																																																																																																																																												
IL12RB1	0	broad.mit.edu	GRCh37	19	18184347	18184347	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000593993.2:c.763C>T	p.Arg255Trp	p.R255W	ENST00000593993	NM_005535.1	255	Cgg/Tgg	0			1			A	R/W	uc002nhw.1	protein_coding		CCDS54232.1			763/1989									pancreas(1)	1	c.(763-765)CGG>TGG			hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF51	interleukin 12 receptor, beta 1 isoform 1				ENSP00000472165		17-Aug									COSM3403949,COSM3403948,COSM3403950	17-Aug	.		ENST00000593993	Transcript	1		cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	ENSG00000096996	g.chr19:18184347G>A	5971			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=I12R1_HUMAN&rb=237&re=337&var=R255W	NA	getma.org/?cm=var&var=hg19,19,18184347,G,A&fts=all	R255W	--	--	1																																		IL12RB1_uc010xqb.1_Missense_Mutation_p.R255W|IL12RB1_uc002nhx.1_Missense_Mutation_p.R295W|IL12RB1_uc002nhy.2_Missense_Mutation_p.R255W	1,1,1			possibly_damaging(0.634)	p.R255W	NM_005535	NP_005526		deleterious(0.05)	1,1,1	I12R1_HUMAN	IL12RB1	HGNC	P42701	I12R1_HUMAN			M0R382_HUMAN,M0QX06_HUMAN		8	827	-			UPI00000502CE	255			Extracellular (Potential).|Fibronectin type-III 3.		SNV	IL12RB1,missense_variant,p.Arg255Trp,ENST00000600835,;IL12RB1,missense_variant,p.Arg255Trp,ENST00000593993,NM_005535.1;IL12RB1,missense_variant,p.Arg255Trp,ENST00000322153,NM_153701.1;	uc002nhw.1	c.763C>T	943/2782	2	2			c.763C>T						19	SNP	c.(763-765)CGG>TGG	25	25			pancreas(1)	1	Broad	interleukin 12 receptor, beta 1 isoform 1			18184347		0.433	ENSG00000096996	7493	g.chr19:18184347G>A	cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity							26.809256	KEEP	2	14	-1	36	29	2	14	-1	32.473276	36	29	0.202899	1	0	0	0	0	1	0	0	0	--	--		0	A			IL12RB1_uc010xqb.1_Missense_Mutation_p.R255W|IL12RB1_uc002nhx.1_Missense_Mutation_p.R295W|IL12RB1_uc002nhy.2_Missense_Mutation_p.R255W	232	GBM-32-1982-TP	p.R255W	G	AGGGTCAGCCGCCTCCTCCCA	NM_005535	NP_005526	18184347	P42701	I12R1_HUMAN	0			8	827	-	A	A			Missense_Mutation	255			Extracellular (Potential).|Fibronectin type-III 3.			
IL12RB1	3594		GRCh37	19	18174730	18174730	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000600835.2:c.1574C>T	p.Ala525Val	p.A525V	ENST00000600835		525	gCg/gTg	0																																																																																																																																																																																																																																												
IL12RB1	3594		GRCh37	19	18180414	18180414	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000600835.2:c.1131C>T	p.Asp377=	p.D377=	ENST00000600835		377	gaC/gaT	0																																																																																																																																																																																																																																												
IL12RB2	3595	broad.mit.edu	GRCh37	1	67787302	67787302	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01	TCGA-06-0214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262345.1:c.94G>A	p.Asp32Asn	p.D32N	ENST00000262345	NM_001559.2	32	Gat/Aat	0			1			A	D/N	uc001ddu.2	protein_coding	YES	CCDS638.1			94/2589									ovary(2)|central_nervous_system(1)	3	c.(94-96)GAT>AAT			Pfam_domain:PF06328,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF79	interleukin 12 receptor, beta 2 precursor				ENSP00000262345		16-Mar	4.94E-05					1.50E-05		0.000303	rs775778071,COSM3400979	16-Mar	.		ENST00000262345	Transcript	1		positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	ENSG00000081985	g.chr1:67787302G>A	5972			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=I12R2_HUMAN&rb=27&re=111&var=D32N	NA	getma.org/?cm=var&var=hg19,1,67787302,G,A&fts=all	D32N	--	--	1																																		IL12RB2_uc010oqi.1_Missense_Mutation_p.D32N|IL12RB2_uc010oqj.1_Missense_Mutation_p.D32N|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.D32N|IL12RB2_uc010oqm.1_Missense_Mutation_p.D32N|IL12RB2_uc010oqn.1_RNA	0,1	1		benign(0.148)	p.D32N	NM_001559	NP_001550		tolerated(0.15)	0,1	I12R2_HUMAN	IL12RB2	HGNC	Q99665	I12R2_HUMAN					3	734	+			UPI0000046B13	32			Extracellular (Potential).		SNV	IL12RB2,missense_variant,p.Asp32Asn,ENST00000262345,NM_001559.2;IL12RB2,missense_variant,p.Asp32Asn,ENST00000371000,NM_001258216.1,NM_001258214.1;IL12RB2,missense_variant,p.Asp32Asn,ENST00000541374,;IL12RB2,missense_variant,p.Asp32Asn,ENST00000544434,NM_001258215.1;	uc001ddu.2	c.94G>A	734/4040	2	2			c.94G>A						1	SNP	c.(94-96)GAT>AAT	19	19			ovary(2)|central_nervous_system(1)	3	Broad	interleukin 12 receptor, beta 2 precursor			67787302		0.393	ENSG00000081985	7494	g.chr1:67787302G>A	positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity							190.975044	KEEP	37	47	-1	105	103	37	47	-1	201.470388	105	103	0.281633	1	0	0	0	0	1	0	0	0	--	--		0	A			IL12RB2_uc010oqi.1_Missense_Mutation_p.D32N|IL12RB2_uc010oqj.1_Missense_Mutation_p.D32N|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.D32N|IL12RB2_uc010oqm.1_Missense_Mutation_p.D32N|IL12RB2_uc010oqn.1_RNA	50	GBM-06-0214-TP	p.D32N	G	CAAGAGAGGCGATGTGACTGT	NM_001559	NP_001550	67787302	Q99665	I12R2_HUMAN	0			3	734	+	A	A			Missense_Mutation	32			Extracellular (Potential).			
IL13RA1	3597		GRCh37	X	117910474	117910474	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000371666.3:c.1191G>T		p.X397_splice	ENST00000371666	NM_001560.2	397	ctG/ctT	0																																																																																																																																																																																																																																												
IL13RA2	0	broad.mit.edu	GRCh37	X	114248418	114248418	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-2572-01	TCGA-41-2572-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000243213.1:c.435C>T	p.Cys145=	p.C145=	ENST00000243213	NM_000640.2	145	tgC/tgT	0		A:0	1	A:0.0014		A	C	uc004epx.2	protein_coding		CCDS14565.1			435/1143									upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3	c.(433-435)TGC>TGT			Gene3D:2.60.40.10,Pfam_domain:PF09240,PROSITE_profiles:PS50853,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF89,Superfamily_domains:SSF49265	interleukin 13 receptor, alpha 2 precursor		A:0		ENSP00000243213	A:0	10-May	6.59E-05		0.000324			8.40E-05			rs199528071,COSM3405856	10-May	.		ENST00000243213	Transcript		A:0.0003		extracellular space|integral to membrane|soluble fraction	cytokine receptor activity	ENSG00000123496	g.chrX:114248418G>A	5975			LOW								--	--	1																																		IL13RA2_uc010nqd.1_Silent_p.C145C	0,1				p.C145C	NM_000640	NP_000631	A:0		0,1	I13R2_HUMAN	IL13RA2	HGNC	Q14627	I13R2_HUMAN					5	560	-			UPI000002E794	145			Extracellular (Potential).|Fibronectin type-III 2.		SNV	IL13RA2,synonymous_variant,p.=,ENST00000371936,;IL13RA2,synonymous_variant,p.=,ENST00000243213,NM_000640.2;IL13RA2,downstream_gene_variant,,ENST00000468224,;	uc004epx.2	c.435C>T	560/1371	2	2			c.435C>T						23	SNP	c.(433-435)TGC>TGT	30	30			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3	Broad	interleukin 13 receptor, alpha 2 precursor			114248418		0.328	ENSG00000123496	7497	g.chrX:114248418G>A		extracellular space|integral to membrane|soluble fraction	cytokine receptor activity							161.779397	KEEP	15	37	-1	10	9	15	37	-1	165.186805	10	9	0.735294	1	0	0	0	0	0	0	1	0	--	--		0	A			IL13RA2_uc010nqd.1_Silent_p.C145C	251	GBM-41-2572-TP	p.C145C	G	TGTAATATACGCAATCCATAT	NM_000640	NP_000631	114248418	Q14627	I13R2_HUMAN	0			5	560	-	A	A			Silent	145			Extracellular (Potential).|Fibronectin type-III 2.			
IL15RA	3601	broad.mit.edu	GRCh37	10	5995110	5995110	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0686-01	TCGA-06-0686-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379977.3:c.752G>T	p.Trp251Leu	p.W251L	ENST00000379977		251	tGg/tTg	0			1			A	W/L	uc001iiv.2	protein_coding	YES	CCDS7074.1			752/804										0	c.(751-753)TGG>TTG			hmmpanther:PTHR15060,hmmpanther:PTHR15060:SF0	interleukin 15 receptor, alpha isoform 1				ENSP00000369312		7-Jul									COSM2151596	7-Jul	.		ENST00000379977	Transcript			cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity	ENSG00000134470	g.chr10:5995110C>A	5978			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=I15RA_HUMAN&rb=1&re=265&var=W251L	NA	getma.org/?cm=var&var=hg19,10,5995110,C,A&fts=all	W251L	--	--	1																																		IL15RA_uc001iiu.2_Intron|IL15RA_uc010qau.1_Missense_Mutation_p.W218L|IL15RA_uc001iiw.2_Missense_Mutation_p.W215L|IL15RA_uc001iix.2_Missense_Mutation_p.W182L|IL15RA_uc001iiy.2_Missense_Mutation_p.W99L	1	1		benign(0.003)	p.W251L	NM_002189	NP_002180		tolerated(0.3)	1	I15RA_HUMAN	IL15RA	HGNC	Q13261	I15RA_HUMAN					7	834	-			UPI0000073D71	251			Cytoplasmic (Potential).		SNV	IL15RA,missense_variant,p.Trp215Leu,ENST00000525219,NM_001243539.1;IL15RA,missense_variant,p.Trp215Leu,ENST00000397248,NM_002189.3,NM_172200.2,NM_001256765.1;IL15RA,missense_variant,p.Trp251Leu,ENST00000379977,;IL15RA,missense_variant,p.Trp186Leu,ENST00000397251,;IL15RA,missense_variant,p.Trp218Leu,ENST00000528354,;IL15RA,missense_variant,p.Trp193Leu,ENST00000532039,;IL15RA,missense_variant,p.Trp153Leu,ENST00000397250,;IL15RA,3_prime_UTR_variant,,ENST00000447291,;IL15RA,intron_variant,,ENST00000435171,;IL15RA,downstream_gene_variant,,ENST00000397246,;IL15RA,downstream_gene_variant,,ENST00000397255,;IL15RA,downstream_gene_variant,,ENST00000530685,;IL15RA,downstream_gene_variant,,ENST00000379971,;IL15RA,non_coding_transcript_exon_variant,,ENST00000534292,;IL15RA,non_coding_transcript_exon_variant,,ENST00000379972,;IL15RA,non_coding_transcript_exon_variant,,ENST00000532948,;IL15RA,non_coding_transcript_exon_variant,,ENST00000379974,;	uc001iiv.2	c.752G>T	850/1626	2	2			c.752G>T						10	SNP	c.(751-753)TGG>TTG	24	24				0	Broad	interleukin 15 receptor, alpha isoform 1			5995110		0.557	ENSG00000134470	7499	g.chr10:5995110C>A	cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity							166.156903	KEEP	39	20	0.338983051	12	2	39	20	0.338983051	172.696189	12	2	0.836066	1	0	0	0	0	1	0	0	0	--	--		0	A			IL15RA_uc001iiu.2_Intron|IL15RA_uc010qau.1_Missense_Mutation_p.W218L|IL15RA_uc001iiw.2_Missense_Mutation_p.W215L|IL15RA_uc001iix.2_Missense_Mutation_p.W182L|IL15RA_uc001iiy.2_Missense_Mutation_p.W99L	64	GBM-06-0686-TP	p.W251L	C	GCTGGTCCCCCAAGTCACCGG	NM_002189	NP_002180	5995110	Q13261	I15RA_HUMAN	0			7	834	-	A	A			Missense_Mutation	251			Cytoplasmic (Potential).			
IL16	0	broad.mit.edu	GRCh37	15	81598457	81598457	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-4925-01	TCGA-76-4925-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302987.4:c.3629C>G	p.Thr1210Ser	p.T1210S	ENST00000302987		1210	aCt/aGt	0			1			G	T/S	uc002bgh.3	protein_coding	YES	CCDS42069.1			3629/3999									ovary(2)|lung(1)|skin(1)	4	c.(3628-3630)ACT>AGT			Low_complexity_(Seg):seg,hmmpanther:PTHR11324,hmmpanther:PTHR11324:SF2,Gene3D:2.30.42.10,Superfamily_domains:SSF50156	interleukin 16 isoform 2				ENSP00000302935		16/18									COSM2157516,COSM2157515	16/18	.		ENST00000302987	Transcript			immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	ENSG00000172349	g.chr15:81598457C>G	5980			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=IL16_HUMAN&rb=1195&re=1233&var=T1210S	NA	getma.org/?cm=var&var=hg19,15,81598457,C,G&fts=all	T1210S	--	--	1																																		IL16_uc010blq.1_Missense_Mutation_p.T1164S|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.T1252S|IL16_uc002bgg.2_Missense_Mutation_p.T1210S|IL16_uc002bgi.1_Missense_Mutation_p.T600S|IL16_uc002bgj.2_Missense_Mutation_p.T704S|IL16_uc002bgk.2_Missense_Mutation_p.T509S|IL16_uc002bgl.1_Missense_Mutation_p.T509S|IL16_uc010unq.1_Missense_Mutation_p.T509S	1,1	1		benign(0.001)	p.T1210S	NM_172217	NP_757366		tolerated(0.38)	1,1	IL16_HUMAN	IL16	HGNC	Q14005	IL16_HUMAN			H0YLL1_HUMAN		17	4005	+			UPI0000229CE7	1210					SNV	IL16,missense_variant,p.Thr1210Ser,ENST00000394660,NM_172217.3,NM_001172128.1;IL16,missense_variant,p.Thr1210Ser,ENST00000302987,;IL16,missense_variant,p.Thr1164Ser,ENST00000559388,;IL16,missense_variant,p.Thr509Ser,ENST00000394652,NM_004513.5;IL16,missense_variant,p.Thr514Ser,ENST00000558332,;STARD5,downstream_gene_variant,,ENST00000302824,NM_181900.2;RP11-761I4.4,intron_variant,,ENST00000607019,;IL16,non_coding_transcript_exon_variant,,ENST00000559342,;STARD5,downstream_gene_variant,,ENST00000560916,;IL16,3_prime_UTR_variant,,ENST00000360547,;IL16,3_prime_UTR_variant,,ENST00000560115,;IL16,3_prime_UTR_variant,,ENST00000558857,;IL16,non_coding_transcript_exon_variant,,ENST00000559953,;	uc002bgh.3	c.3629C>G	3629/3999	3	3			c.3629C>G						15	SNP	c.(3628-3630)ACT>AGT	55	55			ovary(2)|lung(1)|skin(1)	4	Broad	interleukin 16 isoform 2			81598457		0.562	ENSG00000172349	7500	g.chr15:81598457C>G	immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity							311.566263	KEEP	54	40	-1	50	58	54	40	-1	311.711489	50	58	0.469613	1	0	0	0	0	1	0	0	0	--	--		0	G			IL16_uc010blq.1_Missense_Mutation_p.T1164S|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.T1252S|IL16_uc002bgg.2_Missense_Mutation_p.T1210S|IL16_uc002bgi.1_Missense_Mutation_p.T600S|IL16_uc002bgj.2_Missense_Mutation_p.T704S|IL16_uc002bgk.2_Missense_Mutation_p.T509S|IL16_uc002bgl.1_Missense_Mutation_p.T509S|IL16_uc010unq.1_Missense_Mutation_p.T509S	265	GBM-76-4925-TP	p.T1210S	C	AACTCCTCCACTGACTCTGCA	NM_172217	NP_757366	81598457	Q14005	IL16_HUMAN	0			17	4005	+	G	G			Missense_Mutation	1210						
IL17B	27190	broad.mit.edu	GRCh37	5	148754111	148754111	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6389-01	TCGA-06-6389-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261796.3:c.364C>T	p.Leu122=	p.L122=	ENST00000261796	NM_014443.2	122	Ctg/Ttg	0			1			A	L	uc003lqo.2	protein_coding	YES	CCDS4297.1			364/543									central_nervous_system(1)	1	c.(364-366)CTG>TTG			hmmpanther:PTHR21295:SF3,hmmpanther:PTHR21295,Gene3D:2.10.90.10,Pfam_domain:PF06083,Superfamily_domains:SSF57501,Prints_domain:PR01932	interleukin 17B precursor				ENSP00000261796		3-Mar									COSM2153419	3-Mar	.		ENST00000261796	Transcript			cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity	ENSG00000127743	g.chr5:148754111G>A	5982			LOW								--	--	1																																			1	1			p.L122L	NM_014443	NP_055258			1	IL17B_HUMAN	IL17B	HGNC	Q9UHF5	IL17B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				3	414	-			UPI0000034D64	122					SNV	IL17B,synonymous_variant,p.=,ENST00000261796,NM_014443.2;PCYOX1L,downstream_gene_variant,,ENST00000514349,;PCYOX1L,downstream_gene_variant,,ENST00000274569,NM_024028.3;RP11-394O4.3,intron_variant,,ENST00000521756,;IL17B,non_coding_transcript_exon_variant,,ENST00000505432,;IL17B,upstream_gene_variant,,ENST00000518814,;PCYOX1L,downstream_gene_variant,,ENST00000507621,;PCYOX1L,downstream_gene_variant,,ENST00000503240,;PCYOX1L,downstream_gene_variant,,ENST00000511945,;PCYOX1L,downstream_gene_variant,,ENST00000505669,;	uc003lqo.2	c.364C>T	415/696	1	1			c.364C>T						5	SNP	c.(364-366)CTG>TTG	58	58			central_nervous_system(1)	1	Broad	interleukin 17B precursor			148754111		0.647	ENSG00000127743	7502	g.chr5:148754111G>A	cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity							37.049693	KEEP	5	8	-1	24	23	5	8	-1	39.829888	24	23	0.254902	1	0	0	0	0	0	0	1	0	--	--		0	A				105	GBM-06-6389-TP	p.L122L	G	CCCAGACACAGGCACCGTGCC	NM_014443	NP_055258	148754111	Q9UHF5	IL17B_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	414	-	A	A			Silent	122						
IL17RA	0	broad.mit.edu	GRCh37	22	17586805	17586805	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs138404135		TCGA-76-6285-01	TCGA-76-6285-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319363.6:c.1006G>A	p.Val336Ile	p.V336I	ENST00000319363	NM_014339.6	336	Gtc/Atc	0	A:0		1			A	V/I	uc002zly.2	protein_coding	YES	CCDS13739.1			1006/2601									skin(2)	2	c.(1006-1008)GTC>ATC			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR15583:SF1,hmmpanther:PTHR15583	interleukin 17A receptor precursor			A:0.0001	ENSP00000320936		13-Nov	0.000181				0.000629	7.53E-05	0.00778	0.000365	rs138404135,COSM3405499	13-Nov	common_variant		ENST00000319363	Transcript	1		fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	ENSG00000177663	g.chr22:17586805G>A	5985			MODERATE		2.34	medium	getma.org/?cm=msa&ty=f&p=I17RA_HUMAN&rb=201&re=377&var=V336I	NA	getma.org/?cm=var&var=hg19,22,17586805,G,A&fts=all	V336I	--	--	1																																		IL17RA_uc010gqt.2_Intron	0,1	1		benign(0.029)	p.V336I	NM_014339	NP_055154		tolerated(0.17)	0,1	I17RA_HUMAN	IL17RA	HGNC	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	F1JZ08_HUMAN		11	1139	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	UPI000005031F	336			Helical; (Potential).		SNV	IL17RA,missense_variant,p.Val336Ile,ENST00000319363,NM_014339.6;	uc002zly.2	c.1006G>A	1139/8607	1	1			c.1006G>A						22	SNP	c.(1006-1008)GTC>ATC	62	62			skin(2)	2	Broad	interleukin 17A receptor precursor			17586805		0.423	ENSG00000177663	7506	g.chr22:17586805G>A	fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity							70.751832	KEEP	13	15	-1	10	11	13	15	-1	70.957897	10	11	0.578947	1	0	0	0	0	1	0	0	0	--	--		0	A			IL17RA_uc010gqt.2_Intron	280	GBM-76-6285-TP	p.V336I	G	GGTGGGCTCCGTCATCCTGCT	NM_014339	NP_055154	17586805	Q96F46	I17RA_HUMAN	0		Colorectal(9;0.241)	11	1139	+	A	A		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	Missense_Mutation	336			Helical; (Potential).			
IL17RB	0	broad.mit.edu	GRCh37	3	53891662	53891662	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288167.3:c.692C>T	p.Thr231Met	p.T231M	ENST00000288167	NM_018725.3	231	aCg/aTg	0			1			T	T/M	uc003dha.2	protein_coding	YES	CCDS2874.1			692/1509									ovary(2)|pancreas(1)	3	c.(691-693)ACG>ATG			hmmpanther:PTHR15583,hmmpanther:PTHR15583:SF6	interleukin 17B receptor precursor				ENSP00000288167		11-Aug									COSM3408821	11-Aug	.		ENST00000288167	Transcript			defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity	ENSG00000056736	g.chr3:53891662C>T	18015			MODERATE		1.43	low	getma.org/?cm=msa&ty=f&p=I17RB_HUMAN&rb=201&re=331&var=T231M	NA	getma.org/?cm=var&var=hg19,3,53891662,C,T&fts=all	T231M	--	--	1																																			1	1		benign(0.066)	p.T231M	NM_018725	NP_061195		tolerated(0.05)	1	I17RB_HUMAN	IL17RB	HGNC	Q9NRM6	I17RB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)			8	731	+			UPI0000038A0B	231			Extracellular (Potential).		SNV	IL17RB,missense_variant,p.Thr231Met,ENST00000288167,NM_018725.3;IL17RB,missense_variant,p.Thr215Met,ENST00000494338,;RP11-884K10.7,downstream_gene_variant,,ENST00000607783,;IL17RB,non_coding_transcript_exon_variant,,ENST00000475124,;	uc003dha.2	c.692C>T	701/2010	2	2			c.692C>T						3	SNP	c.(691-693)ACG>ATG	35	35			ovary(2)|pancreas(1)	3	Broad	interleukin 17B receptor precursor			53891662		0.373	ENSG00000056736	7507	g.chr3:53891662C>T	defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity							50.527764	KEEP	10	13	-1	46	31	10	13	-1	56.020209	46	31	0.238636	1	0	0	0	0	1	0	0	0	--	--		0	T				229	GBM-32-1977-TP	p.T231M	C	AAGAAACAAACGCGAGCTTCA	NM_018725	NP_061195	53891662	Q9NRM6	I17RB_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	8	731	+	T	T			Missense_Mutation	231			Extracellular (Potential).			
IL17RD	54756	broad.mit.edu	GRCh37	3	57132318	57132318	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5413-01	TCGA-06-5413-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296318.7:c.1413G>A	p.Ala471=	p.A471=	ENST00000296318	NM_017563.3	471	gcG/gcA	0			1			T	A	uc003dil.2	protein_coding	YES	CCDS2880.2			1413/2220										0	c.(1411-1413)GCG>GCA			Pfam_domain:PF08357,PROSITE_profiles:PS51534,hmmpanther:PTHR15583,hmmpanther:PTHR15583:SF8,Low_complexity_(Seg):seg	interleukin 17 receptor D precursor				ENSP00000296318		13-Dec									COSM1047598,COSM1154235	13-Dec	.		ENST00000296318	Transcript	1			Golgi membrane|integral to membrane|plasma membrane	receptor activity	ENSG00000144730	g.chr3:57132318C>T	17616			LOW								--	--	1																																		IL17RD_uc003dik.2_Silent_p.A447A|IL17RD_uc010hna.2_Silent_p.A327A|IL17RD_uc011bex.1_Silent_p.A327A	1,1	1			p.A471A	NM_017563	NP_060033			1,1	I17RD_HUMAN	IL17RD	HGNC	Q8NFM7	I17RD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)	C9J6R0_HUMAN		12	1502	-			UPI0000047CC3	471			SEFIR.|Cytoplasmic (Potential).		SNV	IL17RD,synonymous_variant,p.=,ENST00000296318,NM_017563.3;IL17RD,synonymous_variant,p.=,ENST00000320057,;IL17RD,synonymous_variant,p.=,ENST00000427856,;IL17RD,synonymous_variant,p.=,ENST00000463523,;IL17RD,non_coding_transcript_exon_variant,,ENST00000469841,;	uc003dil.2	c.1413G>A	1502/8720	1	1			c.1413G>A						3	SNP	c.(1411-1413)GCG>GCA	10	10				0	Broad	interleukin 17 receptor D precursor			57132318		0.572	ENSG00000144730	7509	g.chr3:57132318C>T		Golgi membrane|integral to membrane|plasma membrane	receptor activity			213			213	47.440991	KEEP	11	7	-1	23	15	11	7	-1	48.764973	23	15	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	T			IL17RD_uc003dik.2_Silent_p.A447A|IL17RD_uc010hna.2_Silent_p.A327A|IL17RD_uc011bex.1_Silent_p.A327A	96	GBM-06-5413-TP	p.A471A	C	ACTTGCTGAGCGCCGCGGACG	NM_017563	NP_060033	57132318	Q8NFM7	I17RD_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)	12	1502	-	T	T			Silent	471			SEFIR.|Cytoplasmic (Potential).			
IL18R1	0	broad.mit.edu	GRCh37	2	102984390	102984390	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-14-0813-01	TCGA-14-0813-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000233957.1:c.164G>T	p.Ser55Ile	p.S55I	ENST00000233957	NM_003855.2	55	aGc/aTc	0			1			T	S/I	uc002tbw.3	protein_coding		CCDS2060.1			164/1626									ovary(2)|pancreas(1)	3	c.(163-165)AGC>ATC			hmmpanther:PTHR11890:SF6,hmmpanther:PTHR11890,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	interleukin 18 receptor 1 precursor				ENSP00000233957		10-Feb									COSM2154754	10-Feb	.		ENST00000233957	Transcript			innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	ENSG00000115604	g.chr2:102984390G>T	5988			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=IL18R_HUMAN&rb=33&re=121&var=S55I	NA	getma.org/?cm=var&var=hg19,2,102984390,G,T&fts=all	S55I	--	--	1																																		IL18R1_uc010ywb.1_Missense_Mutation_p.S55I|IL18R1_uc010ywc.1_Missense_Mutation_p.S55I|IL18R1_uc010ywd.1_Intron|IL18R1_uc010fiy.2_Missense_Mutation_p.S55I	1			benign(0.06)	p.S55I	NM_003855	NP_003846		deleterious(0.02)	1	IL18R_HUMAN	IL18R1	HGNC	Q13478	IL18R_HUMAN			B7ZKV7_HUMAN		3	314	+			UPI000012D871	55			Ig-like C2-type 1.|Extracellular (Potential).		SNV	IL18R1,missense_variant,p.Ser55Ile,ENST00000409599,;IL18R1,missense_variant,p.Ser55Ile,ENST00000233957,NM_003855.2;IL18R1,missense_variant,p.Ser55Ile,ENST00000410040,;IL18R1,missense_variant,p.Ser55Ile,ENST00000334376,;	uc002tbw.3	c.164G>T	188/3522	1	1			c.164G>T						2	SNP	c.(163-165)AGC>ATC	4	4			ovary(2)|pancreas(1)	3	Broad	interleukin 18 receptor 1 precursor			102984390		0.448	ENSG00000115604	7514	g.chr2:102984390G>T	innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity							123.524075	KEEP	31	11	0.738095238	36	30	31	11	0.738095238	124.5242	36	30	0.396226	1	0	0	0	0	1	0	0	0	--	--		0	T			IL18R1_uc010ywb.1_Missense_Mutation_p.S55I|IL18R1_uc010ywc.1_Missense_Mutation_p.S55I|IL18R1_uc010ywd.1_Intron|IL18R1_uc010fiy.2_Missense_Mutation_p.S55I	138	GBM-14-0813-TP	p.S55I	G	ACCACCAAAAGCTGGTACAAA	NM_003855	NP_003846	102984390	Q13478	IL18R_HUMAN	0			3	314	+	T	T			Missense_Mutation	55			Ig-like C2-type 1.|Extracellular (Potential).			
IL18R1	0	broad.mit.edu	GRCh37	2	102988458	102988459	+	frameshift_variant	Frame_Shift_Del	DEL	AC	AC	-			TCGA-28-1747-01	TCGA-28-1747-01	AC	AC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000233957.1:c.351_352delCA	p.His117GlnfsTer5	p.H117Qfs*5	ENST00000233957	NM_003855.2	116	aaACac/aaac	0			1			-	KH/KX	uc002tbw.3	protein_coding		CCDS2060.1			348-349/1626									ovary(2)|pancreas(1)	3	c.(346-351)AAACACfs			hmmpanther:PTHR11890:SF6,hmmpanther:PTHR11890,Gene3D:2.60.40.10	interleukin 18 receptor 1 precursor				ENSP00000233957		10-Mar	8.24E-06					1.62E-05			rs750865901	10-Mar	.		ENST00000233957	Transcript			innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	ENSG00000115604	g.chr2:102988458_102988459delAC	5988	3		HIGH								--	--	1																																		IL18R1_uc010ywb.1_Frame_Shift_Del_p.K116fs|IL18R1_uc010ywc.1_Frame_Shift_Del_p.K116fs|IL18R1_uc010ywd.1_5'UTR|IL18R1_uc010fiy.2_Frame_Shift_Del_p.K116fs					p.K116fs	NM_003855	NP_003846				IL18R_HUMAN	IL18R1	HGNC	Q13478	IL18R_HUMAN			B7ZKV7_HUMAN		4	498_499	+			UPI000012D871	116_117			Ig-like C2-type 1.|Extracellular (Potential).		deletion	IL18R1,frameshift_variant,p.His117GlnfsTer5,ENST00000409599,;IL18R1,frameshift_variant,p.His117GlnfsTer5,ENST00000233957,NM_003855.2;IL18R1,frameshift_variant,p.His117GlnfsTer5,ENST00000410040,;IL18R1,frameshift_variant,p.His117GlnfsTer5,ENST00000334376,;	uc002tbw.3	c.348_349delAC	372-373/3522	5	5			c.348_349delAC						2	DEL	c.(346-351)AAACACfs	10	10			ovary(2)|pancreas(1)	3	Broad	interleukin 18 receptor 1 precursor			102988459		0.277	ENSG00000115604	7514	g.chr2:102988458_102988459delAC	innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity																				0.28	1	1	0	1	0	0	0	0	0	--	--		0	-			IL18R1_uc010ywb.1_Frame_Shift_Del_p.K116fs|IL18R1_uc010ywc.1_Frame_Shift_Del_p.K116fs|IL18R1_uc010ywd.1_5'UTR|IL18R1_uc010fiy.2_Frame_Shift_Del_p.K116fs	206	GBM-28-1747-TP	p.K116fs	AC	GAAGAAATAAACACAGCTGTTT	NM_003855	NP_003846	102988458	Q13478	IL18R_HUMAN	0			4	498_499	+	-	-			Frame_Shift_Del	116_117			Ig-like C2-type 1.|Extracellular (Potential).			
IL18RAP	8807	broad.mit.edu	GRCh37	2	103057838	103057838	+	splice_donor_variant	Splice_Site	SNP	G	G	T			TCGA-06-2559-01	TCGA-06-2559-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264260.2:c.796+1G>T		p.X266_splice	ENST00000264260	NM_003853.2	266		0			1			T		uc002tbx.2	protein_coding	YES	CCDS2061.1			796/1800									skin(3)|ovary(2)	5	c.e7+1				interleukin 18 receptor accessory protein				ENSP00000264260											COSM2152705		.		ENST00000264260	Transcript			cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	ENSG00000115607	g.chr2:103057838G>T	5989			HIGH	11-Jul							--	--	1																																		IL18RAP_uc010fiz.2_Splice_Site_p.G124_splice	1	1			p.G266_splice	NM_003853	NP_003844			1	I18RA_HUMAN	IL18RAP	HGNC	O95256	I18RA_HUMAN			Q3KPE8_HUMAN,C9JLE2_HUMAN		7	1280	+			UPI0000071CAF						SNV	IL18RAP,splice_donor_variant,,ENST00000264260,NM_003853.2;IL18RAP,splice_donor_variant,,ENST00000409369,;AC007278.3,downstream_gene_variant,,ENST00000450893,;	uc002tbx.2	c.796_splice	-/2773	5	1			c.796_splice						2	SNP	c.e7+1	13	13			skin(3)|ovary(2)	5	Broad	interleukin 18 receptor accessory protein			103057838		0.343	ENSG00000115607	7515	g.chr2:103057838G>T	cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity							135.674098	KEEP	22	22	0.5	19	22	22	22	0.5	135.698659	19	22	0.518987	1	0	0	0	0	0	0	0	1	--	--		0	T			IL18RAP_uc010fiz.2_Splice_Site_p.G124_splice	83	GBM-06-2559-TP	p.G266_splice	G	GTAGAACTTGGTAAGCTGGGC	NM_003853	NP_003844	103057838	O95256	I18RA_HUMAN	0			7	1280	+	T	T			Splice_Site							
IL18RAP	0	broad.mit.edu	GRCh37	2	103068411	103068411	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01	TCGA-14-0790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264260.2:c.1570C>T	p.Pro524Ser	p.P524S	ENST00000264260	NM_003853.2	524	Cct/Tct	0			1			T	P/S	uc002tbx.2	protein_coding	YES	CCDS2061.1			1570/1800									skin(3)|ovary(2)	5	c.(1570-1572)CCT>TCT			Superfamily_domains:SSF52200,SMART_domains:SM00255,Gene3D:3.40.50.10140,Pfam_domain:PF01582,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF4,PROSITE_profiles:PS50104	interleukin 18 receptor accessory protein				ENSP00000264260		12-Dec									COSM418650	12-Dec	.		ENST00000264260	Transcript			cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	ENSG00000115607	g.chr2:103068411C>T	5989			MODERATE		2.865	medium	getma.org/?cm=msa&ty=f&p=I18RA_HUMAN&rb=410&re=558&var=P524S	getma.org/pdb.php?prot=I18RA_HUMAN&from=410&to=558&var=P524S	getma.org/?cm=var&var=hg19,2,103068411,C,T&fts=all	P524S	--	--	1																																		IL18RAP_uc010fiz.2_Missense_Mutation_p.P382S	1	1		probably_damaging(0.999)	p.P524S	NM_003853	NP_003844		deleterious(0)	1	I18RA_HUMAN	IL18RAP	HGNC	O95256	I18RA_HUMAN			Q3KPE8_HUMAN,C9JLE2_HUMAN		12	2054	+			UPI0000071CAF	524			TIR.|Cytoplasmic (Potential).		SNV	IL18RAP,missense_variant,p.Pro524Ser,ENST00000264260,NM_003853.2;IL18RAP,missense_variant,p.Pro382Ser,ENST00000409369,;	uc002tbx.2	c.1570C>T	2159/2773	2	2			c.1570C>T						2	SNP	c.(1570-1572)CCT>TCT	18	18			skin(3)|ovary(2)	5	Broad	interleukin 18 receptor accessory protein			103068411		0.418	ENSG00000115607	7515	g.chr2:103068411C>T	cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity							61.166493	KEEP	17	24	-1	144	121	17	24	-1	96.106376	144	121	0.139785	1	0	0	0	0	1	0	0	0	--	--		0	T			IL18RAP_uc010fiz.2_Missense_Mutation_p.P382S	137	GBM-14-0790-TP	p.P524S	C	AGAGTCTCTACCTCATCTCGT	NM_003853	NP_003844	103068411	O95256	I18RA_HUMAN	0			12	2054	+	T	T			Missense_Mutation	524			TIR.|Cytoplasmic (Potential).			
IL18RAP	0	broad.mit.edu	GRCh37	2	103040451	103040451	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-5959-01	TCGA-19-5959-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264260.2:c.251G>T	p.Trp84Leu	p.W84L	ENST00000264260	NM_003853.2	84	tGg/tTg	0			1			T	W/L	uc002tbx.2	protein_coding	YES	CCDS2061.1			251/1800									skin(3)|ovary(2)	5	c.(250-252)TGG>TTG			hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF4	interleukin 18 receptor accessory protein				ENSP00000264260		12-Apr									COSM3406729	12-Apr	.		ENST00000264260	Transcript			cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	ENSG00000115607	g.chr2:103040451G>T	5989			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=I18RA_HUMAN&rb=1&re=158&var=W84L	NA	getma.org/?cm=var&var=hg19,2,103040451,G,T&fts=all	W84L	--	--	1																																		IL18RAP_uc010fiz.2_Intron	1	1		probably_damaging(1)	p.W84L	NM_003853	NP_003844		deleterious(0)	1	I18RA_HUMAN	IL18RAP	HGNC	O95256	I18RA_HUMAN			Q3KPE8_HUMAN,C9JLE2_HUMAN		4	735	+			UPI0000071CAF	84			Extracellular (Potential).		SNV	IL18RAP,missense_variant,p.Trp84Leu,ENST00000264260,NM_003853.2;IL18RAP,intron_variant,,ENST00000409369,;IL18RAP,downstream_gene_variant,,ENST00000450855,;IL18RAP,non_coding_transcript_exon_variant,,ENST00000497795,;	uc002tbx.2	c.251G>T	840/2773	2	2			c.251G>T						2	SNP	c.(250-252)TGG>TTG	47	47			skin(3)|ovary(2)	5	Broad	interleukin 18 receptor accessory protein			103040451		0.458	ENSG00000115607	7515	g.chr2:103040451G>T	cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity							67.908415	KEEP	10	15	0.4	17	24	10	15	0.4	68.625356	17	24	0.383333	1	0	0	0	0	1	0	0	0	--	--		0	T			IL18RAP_uc010fiz.2_Intron	177	GBM-19-5959-TP	p.W84L	G	GATGTCCAATGGTACCAACAA	NM_003853	NP_003844	103040451	O95256	I18RA_HUMAN	0			4	735	+	T	T			Missense_Mutation	84			Extracellular (Potential).			
IL18RAP	0	broad.mit.edu	GRCh37	2	103039783	103039783	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-41-5651-01	TCGA-41-5651-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264260.2:c.46C>T	p.Arg16Ter	p.R16*	ENST00000264260	NM_003853.2	16	Cga/Tga	0			1			T	R/*	uc002tbx.2	protein_coding	YES	CCDS2061.1			46/1800									skin(3)|ovary(2)	5	c.(46-48)CGA>TGA			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF4	interleukin 18 receptor accessory protein				ENSP00000264260		12-Mar									COSM3406728	12-Mar	.		ENST00000264260	Transcript			cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	ENSG00000115607	g.chr2:103039783C>T	5989			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,103039783,C,T&fts=all	R16*	--	--	1																																		IL18RAP_uc010fiz.2_5'UTR	1	1			p.R16*	NM_003853	NP_003844			1	I18RA_HUMAN	IL18RAP	HGNC	O95256	I18RA_HUMAN			Q3KPE8_HUMAN,C9JLE2_HUMAN		3	530	+			UPI0000071CAF	16					SNV	IL18RAP,stop_gained,p.Arg16Ter,ENST00000264260,NM_003853.2;IL18RAP,stop_gained,p.Arg16Ter,ENST00000450855,;IL18RAP,5_prime_UTR_variant,,ENST00000409369,;IL18RAP,non_coding_transcript_exon_variant,,ENST00000497795,;	uc002tbx.2	c.46C>T	635/2773	5	1			c.46C>T						2	SNP	c.(46-48)CGA>TGA	13	13			skin(3)|ovary(2)	5	Broad	interleukin 18 receptor accessory protein			103039783		0.408	ENSG00000115607	7515	g.chr2:103039783C>T	cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity							176.850979	KEEP	30	39	-1	51	63	30	39	-1	178.642661	51	63	0.386076	1	0	0	0	0	0	1	0	0	--	--		0	T			IL18RAP_uc010fiz.2_5'UTR	258	GBM-41-5651-TP	p.R16*	C	TGCAGGAGAGCGAATTAAAGG	NM_003853	NP_003844	103039783	O95256	I18RA_HUMAN	0			3	530	+	T	T			Nonsense_Mutation	16						
IL18RAP	8807		GRCh37	2	103040791	103040791	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000264260.2:c.496C>T	p.Leu166Phe	p.L166F	ENST00000264260	NM_003853.2	166	Ctt/Ttt	0																																																																																																																																																																																																																																												
IL1A	0	broad.mit.edu	GRCh37	2	113537182	113537182	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01	TCGA-14-0740-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263339.3:c.381G>A	p.Met127Ile	p.M127I	ENST00000263339	NM_000575.3	127	atG/atA	0			1			T	M/I	uc002tig.2	protein_coding	YES	CCDS2101.1			381/816									lung(1)	1	c.(379-381)ATG>ATA			hmmpanther:PTHR11420,Superfamily_domains:SSF50353,Prints_domain:PR01358	interleukin 1, alpha proprotein				ENSP00000263339		7-May									COSM3406796	7-May	.		ENST00000263339	Transcript			anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding	ENSG00000115008	g.chr2:113537182C>T	5991			MODERATE		-0.27	neutral	getma.org/?cm=msa&ty=f&p=IL1A_HUMAN&rb=110&re=154&var=M127I	getma.org/pdb.php?prot=IL1A_HUMAN&from=110&to=154&var=M127I	getma.org/?cm=var&var=hg19,2,113537182,C,T&fts=all	M127I	--	--	1																																			1	1		benign(0)	p.M127I	NM_000575	NP_000566		tolerated(0.7)	1	IL1A_HUMAN	IL1A	HGNC	P01583	IL1A_HUMAN					5	1341	-			UPI0000000CCF	127					SNV	IL1A,missense_variant,p.Met127Ile,ENST00000263339,NM_000575.3;	uc002tig.2	c.381G>A	537/2124	2	2			c.381G>A						2	SNP	c.(379-381)ATG>ATA	47	47			lung(1)	1	Broad	interleukin 1, alpha proprotein			113537182		0.393	ENSG00000115008	7517	g.chr2:113537182C>T	anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			100			100	37.766507	KEEP	10	8	-1	18	32	10	8	-1	41.230412	18	32	0.253968	1	0	0	0	0	1	0	0	0	--	--		0	T				132	GBM-14-0740-TP	p.M127I	C	TGATGATCCTCATAAAGTTGT	NM_000575	NP_000566	113537182	P01583	IL1A_HUMAN	0			5	1341	-	T	T			Missense_Mutation	127						
IL1B	3553	broad.mit.edu	GRCh37	2	113588108	113588108	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-02-0047-01	TCGA-02-0047-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263341.2:c.640C>T	p.Arg214Ter	p.R214*	ENST00000263341	NM_000576.2	214	Cga/Tga	0			1			A	R/*	uc002tii.1	protein_coding	YES	CCDS2102.1			640/810									lung(3)|breast(1)	4	c.(640-642)CGA>TGA			hmmpanther:PTHR10078,hmmpanther:PTHR10078:SF20,Gene3D:2.80.10.50,Pfam_domain:PF00340,SMART_domains:SM00125,Superfamily_domains:SSF50353,Prints_domain:PR01359,Prints_domain:PR00262,Prints_domain:PR01357,Prints_domain:PR00264	interleukin 1, beta proprotein	Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)			ENSP00000263341		7-Jul									COSM1005625	7-Jul	.		ENST00000263341	Transcript			activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding	ENSG00000125538	g.chr2:113588108G>A	5992			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,113588108,G,A&fts=all	R214*	--	--	1																																		IL1B_uc002tih.1_Nonsense_Mutation_p.R183*	1	1			p.R214*	NM_000576	NP_000567			1	IL1B_HUMAN	IL1B	HGNC	P01584	IL1B_HUMAN			C9JWV2_HUMAN,C9JVK0_HUMAN,C9JSC2_HUMAN,B5BUQ8_HUMAN		7	727	-			UPI0000054161	214					SNV	IL1B,stop_gained,p.Arg214Ter,ENST00000263341,NM_000576.2;IL1B,downstream_gene_variant,,ENST00000432018,;IL1B,downstream_gene_variant,,ENST00000418817,;IL1B,downstream_gene_variant,,ENST00000416750,;IL1B,non_coding_transcript_exon_variant,,ENST00000491056,;IL1B,downstream_gene_variant,,ENST00000496280,;IL1B,downstream_gene_variant,,ENST00000487639,;IL1B,downstream_gene_variant,,ENST00000477398,;	uc002tii.1	c.640C>T	851/1631	5	1			c.640C>T						2	SNP	c.(640-642)CGA>TGA	63	63			lung(3)|breast(1)	4	Broad	interleukin 1, beta proprotein		Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	113588108		0.423	ENSG00000125538	7518	g.chr2:113588108G>A	activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			108			108	-5.778744	KEEP	15	9	-1	135	158	15	9	-1	44.786754	135	158	0.078853	1	0	0	0	0	0	1	0	0	--	--		0	A			IL1B_uc002tih.1_Nonsense_Mutation_p.R183*	3	GBM-02-0047-TP	p.R214*	G	AAGACAAATCGCTTTTCCATC	NM_000576	NP_000567	113588108	P01584	IL1B_HUMAN	0			7	727	-	A	A			Nonsense_Mutation	214						
IL1R1	0	broad.mit.edu	GRCh37	2	102791960	102791960	+	synonymous_variant	Silent	SNP	C	C	T	rs113665542	byFrequency;by1000genomes	TCGA-12-5299-01	TCGA-12-5299-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000410023.1:c.1158C>T	p.Asp386=	p.D386=	ENST00000410023		386	gaC/gaT	0	T:0.0091	T:0.0083	1	T:0		T	D	uc002tbq.2	protein_coding	YES	CCDS2055.1			1158/1710									skin(1)	1	c.(1156-1158)GAC>GAT			Gene3D:3.40.50.10140,Prints_domain:PR01537,PROSITE_profiles:PS50104,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF19,SMART_domains:SM00255,Superfamily_domains:SSF52200	interleukin 1 receptor, type I precursor	Anakinra(DB00026)	T:0	T:0.0007	ENSP00000386380	T:0.001	12-Nov	0.00105	0.00884	0.000432	0.000116		0.000435			rs113665542,COSM3406722	12-Nov	common_variant		ENST00000410023	Transcript		T:0.0024	innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding	ENSG00000115594	g.chr2:102791960C>T	5993			LOW								--	--	1																																		IL1R1_uc010fix.2_Intron|IL1R1_uc002tbp.2_Silent_p.D386D|IL1R1_uc002tbr.2_Silent_p.D386D	0,1	1			p.D386D	NM_000877	NP_000868	T:0		0,1	IL1R1_HUMAN	IL1R1	HGNC	P14778	IL1R1_HUMAN			C9JWB2_HUMAN,C9JW84_HUMAN,C9JQ36_HUMAN,C9J686_HUMAN,C9J3W8_HUMAN		11	1476	+			UPI0000034759	386			TIR.|Cytoplasmic (Potential).		SNV	IL1R1,synonymous_variant,p.=,ENST00000410023,;IL1R1,synonymous_variant,p.=,ENST00000233946,NM_000877.2;IL1R1,synonymous_variant,p.=,ENST00000424272,;IL1R1,synonymous_variant,p.=,ENST00000409329,;IL1R1,synonymous_variant,p.=,ENST00000409288,;IL1R1,synonymous_variant,p.=,ENST00000428279,;IL1R1,intron_variant,,ENST00000409589,;IL1R1,intron_variant,,ENST00000409929,;AC007271.3,intron_variant,,ENST00000428188,;IL1R1,3_prime_UTR_variant,,ENST00000413623,;IL1R1,downstream_gene_variant,,ENST00000422532,;	uc002tbq.2	c.1158C>T	1476/5143	2	2			c.1158C>T						2	SNP	c.(1156-1158)GAC>GAT	33	33			skin(1)	1	Broad	interleukin 1 receptor, type I precursor		Anakinra(DB00026)	102791960		0.363	ENSG00000115594	7525	g.chr2:102791960C>T	innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			429			429	566.487134	KEEP	102	104	-1	138	131	102	104	-1	567.636514	138	131	0.443914	1	0	0	0	0	0	0	1	0	--	--		0	T			IL1R1_uc010fix.2_Intron|IL1R1_uc002tbp.2_Silent_p.D386D|IL1R1_uc002tbr.2_Silent_p.D386D	130	GBM-12-5299-TP	p.D386D	C	AGACCTATGACGCATATATAC	NM_000877	NP_000868	102791960	P14778	IL1R1_HUMAN	0			11	1476	+	T	T			Silent	386			TIR.|Cytoplasmic (Potential).			
IL1R1	0	broad.mit.edu	GRCh37	2	102789175	102789175	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-27-1838-01	TCGA-27-1838-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000410023.1:c.868A>T	p.Ser290Cys	p.S290C	ENST00000410023		290	Agt/Tgt	0			1			T	S/C	uc002tbq.2	protein_coding	YES	CCDS2055.1			868/1710									skin(1)	1	c.(868-870)AGT>TGT			Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF19,SMART_domains:SM00409,Superfamily_domains:SSF48726	interleukin 1 receptor, type I precursor	Anakinra(DB00026)			ENSP00000386380		12-Sep									COSM3406721	12-Sep	.		ENST00000410023	Transcript			innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding	ENSG00000115594	g.chr2:102789175A>T	5993			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=IL1R1_HUMAN&rb=225&re=316&var=S290C	getma.org/pdb.php?prot=IL1R1_HUMAN&from=225&to=316&var=S290C	getma.org/?cm=var&var=hg19,2,102789175,A,T&fts=all	S290C	--	--	1																																		IL1R1_uc010fix.2_Missense_Mutation_p.S290C|IL1R1_uc002tbp.2_Missense_Mutation_p.S290C|IL1R1_uc002tbr.2_Missense_Mutation_p.S290C	1	1		probably_damaging(0.982)	p.S290C	NM_000877	NP_000868		tolerated(0.17)	1	IL1R1_HUMAN	IL1R1	HGNC	P14778	IL1R1_HUMAN			C9JWB2_HUMAN,C9JW84_HUMAN,C9JQ36_HUMAN,C9J686_HUMAN,C9J3W8_HUMAN		9	1186	+			UPI0000034759	290			Ig-like C2-type 3.|Extracellular (Potential).		SNV	IL1R1,missense_variant,p.Ser290Cys,ENST00000410023,;IL1R1,missense_variant,p.Ser290Cys,ENST00000233946,NM_000877.2;IL1R1,missense_variant,p.Ser290Cys,ENST00000424272,;IL1R1,missense_variant,p.Ser290Cys,ENST00000409329,;IL1R1,missense_variant,p.Ser290Cys,ENST00000409929,;IL1R1,missense_variant,p.Ser290Cys,ENST00000409288,;IL1R1,missense_variant,p.Ser146Cys,ENST00000428279,;IL1R1,intron_variant,,ENST00000409589,;AC007271.3,intron_variant,,ENST00000428188,;IL1R1,3_prime_UTR_variant,,ENST00000413623,;IL1R1,downstream_gene_variant,,ENST00000422532,;	uc002tbq.2	c.868A>T	1186/5143	1	1			c.868A>T						2	SNP	c.(868-870)AGT>TGT	14	14			skin(1)	1	Broad	interleukin 1 receptor, type I precursor		Anakinra(DB00026)	102789175		0.348	ENSG00000115594	7525	g.chr2:102789175A>T	innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			429			429	118.755048	KEEP	25	17	-1	27	35	25	17	-1	119.325696	27	35	0.418367	1	0	0	0	0	1	0	0	0	--	--		0	T			IL1R1_uc010fix.2_Missense_Mutation_p.S290C|IL1R1_uc002tbp.2_Missense_Mutation_p.S290C|IL1R1_uc002tbr.2_Missense_Mutation_p.S290C	197	GBM-27-1838-TP	p.S290C	A	CAAAAGAAGGAGTACCCTCAT	NM_000877	NP_000868	102789175	P14778	IL1R1_HUMAN	0			9	1186	+	T	T			Missense_Mutation	290			Ig-like C2-type 3.|Extracellular (Potential).			
IL1R1	0	broad.mit.edu	GRCh37	2	102793083	102793083	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5207-01	TCGA-28-5207-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000410023.1:c.1574C>T	p.Ser525Phe	p.S525F	ENST00000410023		525	tCt/tTt	0			1			T	S/F	uc002tbq.2	protein_coding	YES	CCDS2055.1			1574/1710									skin(1)	1	c.(1573-1575)TCT>TTT			Gene3D:3.40.50.10140,Pfam_domain:PF01582,Prints_domain:PR01537,PROSITE_profiles:PS50104,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF19,SMART_domains:SM00255,Superfamily_domains:SSF52200	interleukin 1 receptor, type I precursor	Anakinra(DB00026)			ENSP00000386380		12-Dec									COSM2157347	12-Dec	.		ENST00000410023	Transcript			innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding	ENSG00000115594	g.chr2:102793083C>T	5993			MODERATE		2.64	medium	getma.org/?cm=msa&ty=f&p=IL1R1_HUMAN&rb=387&re=537&var=S525F	getma.org/pdb.php?prot=IL1R1_HUMAN&from=387&to=537&var=S525F	getma.org/?cm=var&var=hg19,2,102793083,C,T&fts=all	S525F	--	--	1																																		IL1R1_uc010fix.2_Missense_Mutation_p.S494F|IL1R1_uc002tbr.2_Missense_Mutation_p.S525F	1	1		probably_damaging(0.988)	p.S525F	NM_000877	NP_000868		deleterious(0)	1	IL1R1_HUMAN	IL1R1	HGNC	P14778	IL1R1_HUMAN			C9JWB2_HUMAN,C9JW84_HUMAN,C9JQ36_HUMAN,C9J686_HUMAN,C9J3W8_HUMAN		12	1892	+			UPI0000034759	525			TIR.|Cytoplasmic (Potential).		SNV	IL1R1,missense_variant,p.Ser525Phe,ENST00000410023,;IL1R1,missense_variant,p.Ser525Phe,ENST00000233946,NM_000877.2;IL1R1,missense_variant,p.Ser494Phe,ENST00000409929,;IL1R1,3_prime_UTR_variant,,ENST00000424272,;IL1R1,intron_variant,,ENST00000409589,;IL1R1,downstream_gene_variant,,ENST00000409329,;IL1R1,downstream_gene_variant,,ENST00000409288,;IL1R1,downstream_gene_variant,,ENST00000428279,;AC007271.3,intron_variant,,ENST00000428188,;IL1R1,3_prime_UTR_variant,,ENST00000413623,;IL1R1,downstream_gene_variant,,ENST00000422532,;	uc002tbq.2	c.1574C>T	1892/5143	2	2			c.1574C>T						2	SNP	c.(1573-1575)TCT>TTT	46	46			skin(1)	1	Broad	interleukin 1 receptor, type I precursor		Anakinra(DB00026)	102793083		0.468	ENSG00000115594	7525	g.chr2:102793083C>T	innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding		p.S525C(HCC2157-Tumor)	429		p.S525C(HCC2157-Tumor)	429	70.072299	KEEP	16	12	-1	28	21	16	12	-1	71.845397	28	21	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	T			IL1R1_uc010fix.2_Missense_Mutation_p.S494F|IL1R1_uc002tbr.2_Missense_Mutation_p.S525F	216	GBM-28-5207-TP	p.S525F	C	GGACCACAGTCTGCAAAGACA	NM_000877	NP_000868	102793083	P14778	IL1R1_HUMAN	0			12	1892	+	T	T			Missense_Mutation	525			TIR.|Cytoplasmic (Potential).			
IL1R2	0	broad.mit.edu	GRCh37	2	102644815	102644815	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-32-5222-01	TCGA-32-5222-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332549.3:c.1158A>G	p.Leu386=	p.L386=	ENST00000332549	NM_004633.3	386	ctA/ctG	0			1			G	L	uc002tbm.2	protein_coding	YES	CCDS2054.1			1158/1197									ovary(1)|breast(1)	2	c.(1156-1158)CTA>CTG				interleukin 1 receptor, type II precursor	Anakinra(DB00026)			ENSP00000330959		9-Sep									COSM3406718	9-Sep	.		ENST00000332549	Transcript			immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	ENSG00000115590	g.chr2:102644815A>G	5994			LOW								--	--	1																																		IL1R2_uc002tbn.2_Silent_p.L386L	1	1			p.L386L	NM_004633	NP_004624			1	IL1R2_HUMAN	IL1R2	HGNC	P27930	IL1R2_HUMAN			C9JNR0_HUMAN		9	1387	+			UPI0000001C78	386			Cytoplasmic (Potential).		SNV	IL1R2,synonymous_variant,p.=,ENST00000332549,NM_004633.3;IL1R2,synonymous_variant,p.=,ENST00000393414,;IL1R2,downstream_gene_variant,,ENST00000441002,NM_001261419.1;IL1R2,non_coding_transcript_exon_variant,,ENST00000485335,;IL1R2,non_coding_transcript_exon_variant,,ENST00000474085,;	uc002tbm.2	c.1158A>G	1387/1578	4	4			c.1158A>G						2	SNP	c.(1156-1158)CTA>CTG	17	17			ovary(1)|breast(1)	2	Broad	interleukin 1 receptor, type II precursor		Anakinra(DB00026)	102644815		0.448	ENSG00000115590	7526	g.chr2:102644815A>G	immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	Pancreas(106;189 1628 2302 5133 12295)		365	Pancreas(106;189 1628 2302 5133 12295)		365	181.767043	KEEP	24	31	-1	51	42	24	31	-1	183.295572	51	42	0.386861	1	0	0	0	0	0	0	1	0	--	--		0	G			IL1R2_uc002tbn.2_Silent_p.L386L	249	GBM-32-5222-TP	p.L386L	A	TGACTGTGCTATGGCCTCATC	NM_004633	NP_004624	102644815	P27930	IL1R2_HUMAN	0			9	1387	+	G	G			Silent	386			Cytoplasmic (Potential).			
IL1RAP	0	broad.mit.edu	GRCh37	3	190345166	190345166	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs138101360		TCGA-27-2527-01	TCGA-27-2527-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000072516.3:c.830G>A	p.Arg277His	p.R277H	ENST00000072516	NM_001167929.1	277	cGc/cAc	0			1			A	R/H	uc003fsm.1	protein_coding		CCDS3298.1			830/1713									ovary(1)	1	c.(829-831)CGC>CAC			PROSITE_profiles:PS50835,hmmpanther:PTHR11890:SF21,hmmpanther:PTHR11890,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	interleukin 1 receptor accessory protein isoform				ENSP00000072516		11-Jul	4.12E-05	0.000289	8.65E-05					6.06E-05	rs756041268,COSM3333266,COSM3333265	11-Jul	.		ENST00000072516	Transcript			inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane		ENSG00000196083	g.chr3:190345166G>A	5995			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=IL1AP_HUMAN&rb=242&re=348&var=R277H	getma.org/pdb.php?prot=IL1AP_HUMAN&from=242&to=348&var=R277H	getma.org/?cm=var&var=hg19,3,190345166,G,A&fts=all	R277H	--	--	1																																		IL1RAP_uc003fsk.2_Missense_Mutation_p.R277H|IL1RAP_uc003fsl.2_Missense_Mutation_p.R277H|IL1RAP_uc010hzf.2_Missense_Mutation_p.R136H|IL1RAP_uc010hzg.1_Missense_Mutation_p.R277H|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Missense_Mutation_p.R277H|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Missense_Mutation_p.R277H	0,1,1			benign(0.001)	p.R277H	NM_002182	NP_002173		tolerated(0.17)	0,1,1	IL1AP_HUMAN	IL1RAP	HGNC	Q9NPH3	IL1AP_HUMAN	Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)	C9JT28_HUMAN,C9J1D9_HUMAN		8	1036	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		UPI000005416D	277			Extracellular (Potential).|Ig-like C2-type 3.		SNV	IL1RAP,missense_variant,p.Arg277His,ENST00000412504,;IL1RAP,missense_variant,p.Arg277His,ENST00000447382,NM_002182.3;IL1RAP,missense_variant,p.Arg277His,ENST00000072516,NM_001167929.1;IL1RAP,missense_variant,p.Arg277His,ENST00000317757,NM_001167931.1;IL1RAP,missense_variant,p.Arg277His,ENST00000439062,NM_001167928.1;IL1RAP,missense_variant,p.Arg277His,ENST00000443369,;IL1RAP,missense_variant,p.Arg277His,ENST00000422485,NM_134470.3;IL1RAP,missense_variant,p.Arg277His,ENST00000422940,NM_001167930.1;IL1RAP,missense_variant,p.Arg136His,ENST00000434491,;IL1RAP,missense_variant,p.Arg114His,ENST00000412080,;IL1RAP,missense_variant,p.Arg277His,ENST00000413869,;IL1RAP,missense_variant,p.Arg277His,ENST00000342550,;GCNT1P3,downstream_gene_variant,,ENST00000450607,;	uc003fsm.1	c.830G>A	1000/4697	2	2			c.830G>A						3	SNP	c.(829-831)CGC>CAC	17	17			ovary(1)	1	Broad	interleukin 1 receptor accessory protein isoform			190345166		0.348	ENSG00000196083	7527	g.chr3:190345166G>A	inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane			p.R277H(SNUC2A-Tumor)	227		p.R277H(SNUC2A-Tumor)	227	48.409439	KEEP	14	16	-1	90	88	14	16	-1	68.631534	90	88	0.153409	1	0	0	0	0	1	0	0	0	--	--		0	A			IL1RAP_uc003fsk.2_Missense_Mutation_p.R277H|IL1RAP_uc003fsl.2_Missense_Mutation_p.R277H|IL1RAP_uc010hzf.2_Missense_Mutation_p.R136H|IL1RAP_uc010hzg.1_Missense_Mutation_p.R277H|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Missense_Mutation_p.R277H|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Missense_Mutation_p.R277H	204	GBM-27-2527-TP	p.R277H	G	ATGGATTCTCGCAATGAGGTT	NM_002182	NP_002173	190345166	Q9NPH3	IL1AP_HUMAN	0	Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)	8	1036	+	A	A	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Missense_Mutation	277			Extracellular (Potential).|Ig-like C2-type 3.			
IL1RAPL1	0	broad.mit.edu	GRCh37	X	29972739	29972739	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-76-4929-01	TCGA-76-4929-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378993.1:c.1302A>G	p.Leu434=	p.L434=	ENST00000378993	NM_014271.3	434	ctA/ctG	0			1			G	L	uc004dby.2	protein_coding	YES	CCDS14218.1			1302/2091									ovary(3)|lung(1)|pancreas(1)	5	c.(1300-1302)CTA>CTG			Prints_domain:PR01537,Superfamily_domains:SSF52200,SMART_domains:SM00255,Gene3D:3.40.50.10140,Pfam_domain:PF01582,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF20,PROSITE_profiles:PS50104	interleukin 1 receptor accessory protein-like 1				ENSP00000368278		11-Oct									COSM3406269,COSM3406268	11-Oct	.		ENST00000378993	Transcript	1		innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	ENSG00000169306	g.chrX:29972739A>G	5996			LOW								--	--	1																																			1,1	1			p.L434L	NM_014271	NP_055086			1,1	IRPL1_HUMAN	IL1RAPL1	HGNC	Q9NZN1	IRPL1_HUMAN			Q7Z2H0_HUMAN		10	1810	+			UPI000006D1BF	434			Cytoplasmic (Potential).|TIR.		SNV	IL1RAPL1,synonymous_variant,p.=,ENST00000378993,NM_014271.3;IL1RAPL1,synonymous_variant,p.=,ENST00000302196,;	uc004dby.2	c.1302A>G	1975/3667	3	3			c.1302A>G						23	SNP	c.(1300-1302)CTA>CTG	50	50			ovary(3)|lung(1)|pancreas(1)	5	Broad	interleukin 1 receptor accessory protein-like 1			29972739		0.363	ENSG00000169306	7528	g.chrX:29972739A>G	innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity							193.401513	KEEP	30	34	-1	84	108	30	34	-1	206.847491	84	108	0.251046	1	0	0	0	0	0	0	1	0	--	--		0	G				269	GBM-76-4929-TP	p.L434L	A	TTGAAATCCTACCTGATATGC	NM_014271	NP_055086	29972739	Q9NZN1	IRPL1_HUMAN	0			10	1810	+	G	G			Silent	434			Cytoplasmic (Potential).|TIR.			
IL1RAPL2	0	broad.mit.edu	GRCh37	X	105011591	105011591	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-2632-01	TCGA-32-2632-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372582.1:c.1998C>A	p.His666Gln	p.H666Q	ENST00000372582	NM_017416.1	666	caC/caA	0			1			A	H/Q	uc004elz.1	protein_coding	YES	CCDS14517.1			1998/2061									breast(2)|ovary(1)	3	c.(1996-1998)CAC>CAA				interleukin 1 receptor accessory protein-like 2				ENSP00000361663		11-Nov									COSM3405798	11-Nov	.		ENST00000372582	Transcript			central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	ENSG00000189108	g.chrX:105011591C>A	5997			MODERATE		1.655	low	getma.org/?cm=msa&ty=f&p=IRPL2_HUMAN&rb=556&re=686&var=H666Q	NA	getma.org/?cm=var&var=hg19,X,105011591,C,A&fts=all	H666Q	--	--	1																																			1	1		benign(0.374)	p.H666Q	NM_017416	NP_059112		tolerated_low_confidence(0.05)	1	IRPL2_HUMAN	IL1RAPL2	HGNC	Q9NP60	IRPL2_HUMAN					11	2754	+			UPI0000073DF7	666			Cytoplasmic (Potential).		SNV	IL1RAPL2,missense_variant,p.His666Gln,ENST00000372582,NM_017416.1;IL1RAPL2,missense_variant,p.His666Gln,ENST00000344799,;IL1RAPL2,downstream_gene_variant,,ENST00000485671,;	uc004elz.1	c.1998C>A	2754/2985	1	1			c.1998C>A						23	SNP	c.(1996-1998)CAC>CAA	64	64			breast(2)|ovary(1)	3	Broad	interleukin 1 receptor accessory protein-like 2			105011591		0.428	ENSG00000189108	7529	g.chrX:105011591C>A	central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity							311.390398	KEEP	51	49	0.49	24	15	51	49	0.49	316.824562	24	15	0.72	1	0	0	0	0	1	0	0	0	--	--		0	A				240	GBM-32-2632-TP	p.H666Q	C	AGGAATTTCACAGGAACAGTT	NM_017416	NP_059112	105011591	Q9NP60	IRPL2_HUMAN	0			11	2754	+	A	A			Missense_Mutation	666			Cytoplasmic (Potential).			
IL1RAPL2	26280		GRCh37	X	105011554	105011554	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000372582.1:c.1961C>T	p.Pro654Leu	p.P654L	ENST00000372582	NM_017416.1	654	cCc/cTc	0																																																																																																																																																																																																																																												
IL1RL1	0	broad.mit.edu	GRCh37	2	102959595	102959595	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-2620-01	TCGA-19-2620-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000233954.1:c.782T>C	p.Phe261Ser	p.F261S	ENST00000233954	NM_016232.4	261	tTt/tCt	0			1			C	F/S	uc002tbu.1	protein_coding	YES	CCDS2057.1			782/1671									skin(2)|ovary(1)|central_nervous_system(1)	4	c.(781-783)TTT>TCT			PROSITE_profiles:PS50835,hmmpanther:PTHR11890:SF7,hmmpanther:PTHR11890,Pfam_domain:PF13927,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	interleukin 1 receptor-like 1 isoform 1				ENSP00000233954		11-Jul									COSM3406727,COSM3406726	11-Jul	.		ENST00000233954	Transcript			innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	ENSG00000115602	g.chr2:102959595T>C	5998			MODERATE		2.3	medium	getma.org/?cm=msa&ty=f&p=ILRL1_HUMAN&rb=211&re=307&var=F261S	NA	getma.org/?cm=var&var=hg19,2,102959595,T,C&fts=all	F261S	--	--	1																																		IL1RL1_uc010ywa.1_Missense_Mutation_p.F144S|IL18R1_uc002tbw.3_Intron|IL1RL1_uc002tbv.2_Missense_Mutation_p.F261S	1,1	1		benign(0.158)	p.F261S	NM_016232	NP_057316		tolerated(0.09)	1,1	ILRL1_HUMAN	IL1RL1	HGNC	Q01638	ILRL1_HUMAN			C9JSY6_HUMAN,A8VPX0_HUMAN		7	1053	+			UPI000013C992	261			Extracellular (Potential).|Ig-like C2-type 3.		SNV	IL1RL1,missense_variant,p.Phe261Ser,ENST00000311734,NM_001282408.1;IL1RL1,missense_variant,p.Phe247Ser,ENST00000409584,NM_003856.2;IL1RL1,missense_variant,p.Phe261Ser,ENST00000233954,NM_016232.4;IL1RL1,missense_variant,p.Phe144Ser,ENST00000404917,;IL18R1,intron_variant,,ENST00000410040,;IL1RL1,downstream_gene_variant,,ENST00000393393,;IL1RL1,downstream_gene_variant,,ENST00000447231,;IL1RL1,downstream_gene_variant,,ENST00000473175,;IL1RL1,downstream_gene_variant,,ENST00000482701,;IL1RL1,3_prime_UTR_variant,,ENST00000427077,;IL1RL1,downstream_gene_variant,,ENST00000463990,;	uc002tbu.1	c.782T>C	1053/2058	4	4			c.782T>C						2	SNP	c.(781-783)TTT>TCT	36	36			skin(2)|ovary(1)|central_nervous_system(1)	4	Broad	interleukin 1 receptor-like 1 isoform 1			102959595		0.423	ENSG00000115602	7530	g.chr2:102959595T>C	innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity							200.585727	KEEP	29	32	-1	61	48	29	32	-1	203.640001	61	48	0.355422	1	0	0	0	0	1	0	0	0	--	--		0	C			IL1RL1_uc010ywa.1_Missense_Mutation_p.F144S|IL18R1_uc002tbw.3_Intron|IL1RL1_uc002tbv.2_Missense_Mutation_p.F261S	162	GBM-19-2620-TP	p.F261S	T	ATTACAGACTTTGGTGAACCA	NM_016232	NP_057316	102959595	Q01638	ILRL1_HUMAN	0			7	1053	+	C	C			Missense_Mutation	261			Extracellular (Potential).|Ig-like C2-type 3.			
IL1RL2	0	broad.mit.edu	GRCh37	2	102849423	102849423	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T			TCGA-19-5955-01	TCGA-19-5955-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264257.2:c.1136A>T	p.Asp379Val	p.D379V	ENST00000264257	NM_003854.2	379	gAt/gTt	0			1			T	D/V	uc002tbs.2	protein_coding	YES	CCDS2056.1			1136/1728									ovary(2)	2	c.(1135-1137)GAT>GTT			Prints_domain:PR01537,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF9,Superfamily_domains:SSF52200	interleukin 1 receptor-like 2 precursor				ENSP00000264257		12-Oct									COSM3406724,COSM3406725	12-Oct	.		ENST00000264257	Transcript			cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	ENSG00000115598	g.chr2:102849423A>T	5999			MODERATE		2.74	medium	getma.org/?cm=msa&ty=f&p=ILRL2_HUMAN&rb=215&re=384&var=D379V	NA	getma.org/?cm=var&var=hg19,2,102849423,A,T&fts=all	D379V	--	--	1																																		IL1RL2_uc002tbt.2_Missense_Mutation_p.D261V	1,1	1		probably_damaging(0.997)	p.D379V	NM_003854	NP_003845		deleterious(0)	1,1	ILRL2_HUMAN	IL1RL2	HGNC	Q9HB29	ILRL2_HUMAN			C9K0I8_HUMAN		10	1262	+			UPI000013D4ED	379			Cytoplasmic (Potential).		SNV	IL1RL2,missense_variant,p.Asp379Val,ENST00000264257,NM_003854.2;IL1RL2,missense_variant,p.Asp379Val,ENST00000539491,;IL1RL2,missense_variant,p.Asp261Val,ENST00000441515,;IL1RL2,splice_region_variant,,ENST00000481806,;	uc002tbs.2	c.1136A>T	1262/2615	2	2			c.1136A>T						2	SNP	c.(1135-1137)GAT>GTT	48	48			ovary(2)	2	Broad	interleukin 1 receptor-like 2 precursor			102849423		0.507	ENSG00000115598	7531	g.chr2:102849423A>T	cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity							-19.904201	KEEP	0	5	-1	48	82	0	5	-1	8.02856	48	82	0.033898	1	0	0	0	0	1	0	0	0	--	--		0	T			IL1RL2_uc002tbt.2_Missense_Mutation_p.D261V	175	GBM-19-5955-TP	p.D379V	A	TCCTTTTCAGATGGGAAGCTG	NM_003854	NP_003845	102849423	Q9HB29	ILRL2_HUMAN	0			10	1262	+	T	T			Missense_Mutation	379			Cytoplasmic (Potential).			
IL1RL2	8808		GRCh37	2	102805705	102805705	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000264257.2:c.228C>T	p.Asp76=	p.D76=	ENST00000264257	NM_003854.2	76	gaC/gaT	0																																																																																																																																																																																																																																												
IL1RN	3557	broad.mit.edu	GRCh37	2	113890330	113890330	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-02-0055-01	TCGA-02-0055-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259206.5:c.425C>A	p.Ala142Asp	p.A142D	ENST00000259206	NM_173841.2	142	gCc/gAc	0			1			A	A/D	uc002tjb.2	protein_coding		CCDS46396.1			416/534									skin(2)	2	c.(415-417)GCC>GAC			hmmpanther:PTHR10078:SF6,hmmpanther:PTHR10078,PROSITE_patterns:PS00253,Pfam_domain:PF00340,Gene3D:2.80.10.50,SMART_domains:SM00125,Superfamily_domains:SSF50353,Prints_domain:PR00264,Prints_domain:PR01360	interleukin 1 receptor antagonist isoform 1	Anakinra(DB00026)			ENSP00000387173		4-Apr									COSM3406802,COSM3406801	4-Apr	.	Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of	ENST00000409930	Transcript	1		immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity	ENSG00000136689	g.chr2:113890330C>A	6000			MODERATE		3.24	medium	getma.org/?cm=msa&ty=f&p=IL1RA_HUMAN&rb=60&re=173&var=A139D	getma.org/pdb.php?prot=IL1RA_HUMAN&from=60&to=173&var=A139D	getma.org/?cm=var&var=hg19,2,113890330,C,A&fts=all	A139D	--	--	1																																		IL1RN_uc002tix.1_RNA|IL1RN_uc002tiy.2_Missense_Mutation_p.A105D|IL1RN_uc002tiz.2_Missense_Mutation_p.A142D|IL1RN_uc002tja.2_Missense_Mutation_p.A121D	1,1			probably_damaging(0.999)	p.A139D	NM_173842	NP_776214		deleterious(0)	1,1	IL1RA_HUMAN	IL1RN	HGNC	P18510	IL1RA_HUMAN					4	480	+			UPI000003475A	139					SNV	IL1RN,missense_variant,p.Ala105Asp,ENST00000361779,NM_173843.2;IL1RN,missense_variant,p.Ala105Asp,ENST00000409052,;IL1RN,missense_variant,p.Ala142Asp,ENST00000259206,NM_173841.2;IL1RN,missense_variant,p.Ala121Asp,ENST00000354115,NM_000577.4;IL1RN,missense_variant,p.Ala139Asp,ENST00000409930,NM_173842.2;IL1RN,downstream_gene_variant,,ENST00000486167,;IL1RN,downstream_gene_variant,,ENST00000472292,;	uc002tjb.2	c.416C>A	480/848	1	1			c.416C>A						2	SNP	c.(415-417)GCC>GAC	59	59			skin(2)	2	Broad	interleukin 1 receptor antagonist isoform 1		Anakinra(DB00026)	113890330	Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of	0.572	ENSG00000136689	7532	g.chr2:113890330C>A	immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			97			97	-49.672582	KEEP	4	3	0.428571429	125	163	4	3	0.428571429	8.439121	125	163	0.025751	1	0	0	0	0	1	0	0	0	--	--		0	A			IL1RN_uc002tix.1_RNA|IL1RN_uc002tiy.2_Missense_Mutation_p.A105D|IL1RN_uc002tiz.2_Missense_Mutation_p.A142D|IL1RN_uc002tja.2_Missense_Mutation_p.A121D	4	GBM-02-0055-TP	p.A139D	C	TTTGAGTCTGCCGCCTGCCCC	NM_173842	NP_776214	113890330	P18510	IL1RA_HUMAN	0			4	480	+	A	A			Missense_Mutation	139						
IL1RN	0	broad.mit.edu	GRCh37	2	113890404	113890404	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01	TCGA-14-1450-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409930.3:c.490G>A	p.Glu164Lys	p.E164K	ENST00000409930	NM_173842.2	164	Gaa/Aaa	0			1			A	E/K	uc002tjb.2	protein_coding		CCDS46396.1			490/534									skin(2)	2	c.(490-492)GAA>AAA			hmmpanther:PTHR10078:SF6,hmmpanther:PTHR10078,Pfam_domain:PF00340,Gene3D:2.80.10.50,SMART_domains:SM00125,Superfamily_domains:SSF50353,Prints_domain:PR01360	interleukin 1 receptor antagonist isoform 1	Anakinra(DB00026)			ENSP00000387173		4-Apr									COSM3406804,COSM3406803	4-Apr	.	Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of	ENST00000409930	Transcript	1		immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity	ENSG00000136689	g.chr2:113890404G>A	6000			MODERATE		0.63	neutral	getma.org/?cm=msa&ty=f&p=IL1RA_HUMAN&rb=60&re=173&var=E164K	getma.org/pdb.php?prot=IL1RA_HUMAN&from=60&to=173&var=E164K	getma.org/?cm=var&var=hg19,2,113890404,G,A&fts=all	E164K	--	--	1																																		IL1RN_uc002tix.1_RNA|IL1RN_uc002tiy.2_Missense_Mutation_p.E130K|IL1RN_uc002tiz.2_Missense_Mutation_p.E167K|IL1RN_uc002tja.2_Missense_Mutation_p.E146K	1,1			benign(0.013)	p.E164K	NM_173842	NP_776214		tolerated(0.14)	1,1	IL1RA_HUMAN	IL1RN	HGNC	P18510	IL1RA_HUMAN					4	554	+			UPI000003475A	164					SNV	IL1RN,missense_variant,p.Glu130Lys,ENST00000361779,NM_173843.2;IL1RN,missense_variant,p.Glu130Lys,ENST00000409052,;IL1RN,missense_variant,p.Glu167Lys,ENST00000259206,NM_173841.2;IL1RN,missense_variant,p.Glu146Lys,ENST00000354115,NM_000577.4;IL1RN,missense_variant,p.Glu164Lys,ENST00000409930,NM_173842.2;IL1RN,downstream_gene_variant,,ENST00000486167,;IL1RN,downstream_gene_variant,,ENST00000472292,;	uc002tjb.2	c.490G>A	554/848	2	2			c.490G>A						2	SNP	c.(490-492)GAA>AAA	34	34			skin(2)	2	Broad	interleukin 1 receptor antagonist isoform 1		Anakinra(DB00026)	113890404	Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of	0.592	ENSG00000136689	7532	g.chr2:113890404G>A	immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			97			97	102.183351	KEEP	20	26	-1	65	59	20	26	-1	108.244979	65	59	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	A			IL1RN_uc002tix.1_RNA|IL1RN_uc002tiy.2_Missense_Mutation_p.E130K|IL1RN_uc002tiz.2_Missense_Mutation_p.E167K|IL1RN_uc002tja.2_Missense_Mutation_p.E146K	145	GBM-14-1450-TP	p.E164K	G	TATGCCTGACGAAGGCGTCAT	NM_173842	NP_776214	113890404	P18510	IL1RA_HUMAN	0			4	554	+	A	A			Missense_Mutation	164						
IL2	3558	broad.mit.edu	GRCh37	4	123374886	123374886	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-1804-01	TCGA-06-1804-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000226730.4:c.330C>T	p.Asn110=	p.N110=	ENST00000226730	NM_000586.3	110	aaC/aaT	0			1			A	N	uc003ier.2	protein_coding	YES	CCDS3726.1			330/462	T		TNFRSF17		intestinal T-cell lymphoma				skin(1)	1	c.(328-330)AAC>AAT			hmmpanther:PTHR11443,Gene3D:1.20.1250.10,Pfam_domain:PF00715,SMART_domains:SM00189,Superfamily_domains:SSF47266,Prints_domain:PR00265	interleukin 2 precursor				ENSP00000226730		4-Mar									COSM2152478	4-Mar	.		ENST00000226730	Transcript			anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity	ENSG00000109471	g.chr4:123374886G>A	6001			LOW								--	--	1																																			1	1			p.N110N	NM_000586	NP_000577			1	IL2_HUMAN	IL2	HGNC	P60568	IL2_HUMAN		LUSC - Lung squamous cell carcinoma(721;0.185)	Q9C001_HUMAN,Q8NFA4_HUMAN,Q71V48_HUMAN,Q309Q7_HUMAN,Q0GK43_HUMAN		3	385	-			UPI000002BE7B	110					SNV	IL2,synonymous_variant,p.=,ENST00000226730,NM_000586.3;IL2,non_coding_transcript_exon_variant,,ENST00000477645,;	uc003ier.2	c.330C>T	615/1029	1	1			c.330C>T	T		TNFRSF17		intestinal T-cell lymphoma	4	SNP	c.(328-330)AAC>AAT	61	61			skin(1)	1	Broad	interleukin 2 precursor			123374886		0.353	ENSG00000109471	7533	g.chr4:123374886G>A	anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity			34			34	20.219755	KEEP	0	9	-1	5	7	0	9	-1	20.50901	5	7	0.368421	1	0	0	0	0	0	0	1	0	--	--		0	A				79	GBM-06-1804-TP	p.N110N	G	GAACTATTACGTTGATATTGC	NM_000586	NP_000577	123374886	P60568	IL2_HUMAN	0		LUSC - Lung squamous cell carcinoma(721;0.185)	3	385	-	A	A			Silent	110						
IL20	0	broad.mit.edu	GRCh37	1	207039922	207039922	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01	TCGA-41-3393-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367096.3:c.319C>T	p.Arg107Trp	p.R107W	ENST00000367096	NM_018724.3	107	Cgg/Tgg	0	T:0		1			T	R/W	uc001her.2	protein_coding		CCDS1470.1			319/531										0	c.(319-321)CGG>TGG			Gene3D:1.20.1250.10,Pfam_domain:PF00726,hmmpanther:PTHR11585,hmmpanther:PTHR11585:SF4,SMART_domains:SM00188,Superfamily_domains:SSF47266	interleukin 20 precursor			T:0.0001	ENSP00000356063		5-Mar	0.000264			0.000116	0.000151	4.50E-05		0.00164	rs373331152,COSM1927773	5-Mar	common_variant		ENST00000367096	Transcript			positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding	ENSG00000162891	g.chr1:207039922C>T	6002			MODERATE		2.73	medium	getma.org/?cm=msa&ty=f&p=IL20_HUMAN&rb=20&re=175&var=R107W	getma.org/pdb.php?prot=IL20_HUMAN&from=20&to=175&var=R107W	getma.org/?cm=var&var=hg19,1,207039922,C,T&fts=all	R107W	--	--	1																																		IL20_uc010pry.1_Missense_Mutation_p.R178W|IL20_uc009xby.2_Missense_Mutation_p.R107W	0,1			probably_damaging(0.996)	p.R107W	NM_018724	NP_061194		deleterious(0)	0,1	IL20_HUMAN	IL20	HGNC	Q9NYY1	IL20_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00459)			3	363	+	Breast(84;0.201)		UPI000004C618	107					SNV	IL20,missense_variant,p.Arg107Trp,ENST00000367098,;IL20,missense_variant,p.Arg107Trp,ENST00000367096,NM_018724.3;IL20,missense_variant,p.Arg107Trp,ENST00000391930,;	uc001her.2	c.319C>T	363/925	2	2			c.319C>T						1	SNP	c.(319-321)CGG>TGG	33	33				0	Broad	interleukin 20 precursor			207039922		0.512	ENSG00000162891	7534	g.chr1:207039922C>T	positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding							332.140301	KEEP	79	65	-1	182	202	79	65	-1	355.210559	182	202	0.26971	1	0	0	0	0	1	0	0	0	--	--		0	T			IL20_uc010pry.1_Missense_Mutation_p.R178W|IL20_uc009xby.2_Missense_Mutation_p.R107W	255	GBM-41-3393-TP	p.R107W	C	TTATACTCTCCGGAAGATCAG	NM_018724	NP_061194	207039922	Q9NYY1	IL20_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.00459)	3	363	+	T	T	Breast(84;0.201)		Missense_Mutation	107						
IL21R	50615	broad.mit.edu	GRCh37	16	27441407	27441407	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-2558-01	TCGA-06-2558-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337929.3:c.15G>A	p.Trp5Ter	p.W5*	ENST00000337929	NM_181078.2	5	tgG/tgA	0			1			A	W/*	uc002doq.1	protein_coding	YES	CCDS10630.1			15/1617	T		BCL6		NHL				ovary(2)|lung(1)|breast(1)	4	c.(13-15)TGG>TGA			hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF25,Cleavage_site_(Signalp):SignalP-noTM	interleukin 21 receptor precursor				ENSP00000338010		9-Feb									COSM2152653	9-Feb	.		ENST00000337929	Transcript	1		natural killer cell activation	integral to membrane	interleukin-21 receptor activity	ENSG00000103522	g.chr16:27441407G>A	6006			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,16,27441407,G,A&fts=all	W5*	--	--	1																																		IL21R_uc002dor.1_Nonsense_Mutation_p.W5*|IL21R_uc002dos.1_Nonsense_Mutation_p.W5*	1	1			p.W5*	NM_181078	NP_851564			1	IL21R_HUMAN	IL21R	HGNC	Q9HBE5	IL21R_HUMAN					2	248	+			UPI0000043CF0	5					SNV	IL21R,stop_gained,p.Trp5Ter,ENST00000337929,NM_181078.2;IL21R,stop_gained,p.Trp5Ter,ENST00000395755,;IL21R,stop_gained,p.Trp5Ter,ENST00000564089,NM_181079.4;IL21R,stop_gained,p.Trp5Ter,ENST00000395754,NM_021798.3;	uc002doq.1	c.15G>A	488/3365	5	2			c.15G>A	T		BCL6		NHL	16	SNP	c.(13-15)TGG>TGA	44	44			ovary(2)|lung(1)|breast(1)	4	Broad	interleukin 21 receptor precursor			27441407		0.716	ENSG00000103522	7538	g.chr16:27441407G>A	natural killer cell activation	integral to membrane	interleukin-21 receptor activity			423			423	20.887349	KEEP	11	3	-1	13	16	11	3	-1	22.199221	13	16	0.275862	1	0	0	0	0	0	1	0	0	--	--		0	A			IL21R_uc002dor.1_Nonsense_Mutation_p.W5*|IL21R_uc002dos.1_Nonsense_Mutation_p.W5*	82	GBM-06-2558-TP	p.W5*	G	CGCGTGGCTGGGCCGCCCCCT	NM_181078	NP_851564	27441407	Q9HBE5	IL21R_HUMAN	0			2	248	+	A	A			Nonsense_Mutation	5						
IL21R	50615	broad.mit.edu	GRCh37	16	27460197	27460197	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-6390-01	TCGA-06-6390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337929.3:c.1210C>A	p.Leu404Met	p.L404M	ENST00000337929	NM_181078.2	404	Ctg/Atg	0			1			A	L/M	uc002doq.1	protein_coding	YES	CCDS10630.1			1210/1617	T		BCL6		NHL				ovary(2)|lung(1)|breast(1)	4	c.(1210-1212)CTG>ATG			hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF25	interleukin 21 receptor precursor				ENSP00000338010		9-Sep									COSM2153446	9-Sep	.		ENST00000337929	Transcript	1		natural killer cell activation	integral to membrane	interleukin-21 receptor activity	ENSG00000103522	g.chr16:27460197C>A	6006			MODERATE		2.075	medium	getma.org/?cm=msa&ty=f&p=IL21R_HUMAN&rb=1&re=536&var=L404M	NA	getma.org/?cm=var&var=hg19,16,27460197,C,A&fts=all	L404M	--	--	1																																		IL21R_uc002dor.1_Missense_Mutation_p.L404M|IL21R_uc002dos.1_Missense_Mutation_p.L404M|uc002dot.2_RNA	1	1		probably_damaging(0.996)	p.L404M	NM_181078	NP_851564		deleterious(0.01)	1	IL21R_HUMAN	IL21R	HGNC	Q9HBE5	IL21R_HUMAN					9	1443	+			UPI0000043CF0	404			Cytoplasmic (Potential).		SNV	IL21R,missense_variant,p.Leu404Met,ENST00000337929,NM_181078.2;IL21R,missense_variant,p.Leu404Met,ENST00000395755,;IL21R,missense_variant,p.Leu404Met,ENST00000564089,NM_181079.4;IL21R,missense_variant,p.Leu404Met,ENST00000395754,NM_021798.3;IL21R-AS1,non_coding_transcript_exon_variant,,ENST00000563191,;IL21R,downstream_gene_variant,,ENST00000564583,;IL21R,downstream_gene_variant,,ENST00000561953,;	uc002doq.1	c.1210C>A	1683/3365	2	2			c.1210C>A	T		BCL6		NHL	16	SNP	c.(1210-1212)CTG>ATG	43	43			ovary(2)|lung(1)|breast(1)	4	Broad	interleukin 21 receptor precursor			27460197		0.632	ENSG00000103522	7538	g.chr16:27460197C>A	natural killer cell activation	integral to membrane	interleukin-21 receptor activity			423			423	67.262979	KEEP	16	14	0.466666667	41	58	16	14	0.466666667	74.664905	41	58	0.234783	1	0	0	0	0	1	0	0	0	--	--		0	A			IL21R_uc002dor.1_Missense_Mutation_p.L404M|IL21R_uc002dos.1_Missense_Mutation_p.L404M|uc002dot.2_RNA	106	GBM-06-6390-TP	p.L404M	C	AGCCCTGGACCTGGATGCTGG	NM_181078	NP_851564	27460197	Q9HBE5	IL21R_HUMAN	0			9	1443	+	A	A			Missense_Mutation	404			Cytoplasmic (Potential).			
IL22	50616	broad.mit.edu	GRCh37	12	68647046	68647046	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0129-01	TCGA-06-0129-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000538666.1:c.183G>C	p.Lys61Asn	p.K61N	ENST00000538666		61	aaG/aaC	0			1			G	K/N	uc001sty.1	protein_coding		CCDS8982.1			183/540										0	c.(181-183)AAG>AAC			hmmpanther:PTHR14263:SF2,hmmpanther:PTHR14263,Pfam_domain:PF14565,Gene3D:1.20.1250.10,PIRSF_domain:PIRSF037726,Superfamily_domains:SSF47266,Prints_domain:PR01936	interleukin 22 precursor				ENSP00000329384		5-Jan									COSM2149504	5-Jan	.		ENST00000328087	Transcript			acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding	ENSG00000127318	g.chr12:68647046C>G	14900			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=IL22_HUMAN&rb=1&re=178&var=K61N	getma.org/pdb.php?prot=IL22_HUMAN&from=1&to=178&var=K61N	getma.org/?cm=var&var=hg19,12,68647046,C,G&fts=all	K61N	--	--	1																																		IL22_uc010stb.1_Missense_Mutation_p.K61N	1			benign(0.015)	p.K61N	NM_020525	NP_065386		tolerated(0.08)	1	IL22_HUMAN	IL22	HGNC	Q9GZX6	IL22_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)			1	236	-		Myeloproliferative disorder(1001;0.0255)	UPI0000034E46	61					SNV	IL22,missense_variant,p.Lys61Asn,ENST00000538666,;IL22,missense_variant,p.Lys61Asn,ENST00000328087,NM_020525.4;	uc001sty.1	c.183G>C	236/1147	3	3			c.183G>C						12	SNP	c.(181-183)AAG>AAC	56	56				0	Broad	interleukin 22 precursor			68647046		0.483	ENSG00000127318	7539	g.chr12:68647046C>G	acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding							126.815147	KEEP	23	29	-1	42	53	23	29	-1	129.541057	42	53	0.346154	1	0	0	0	0	1	0	0	0	--	--		0	G			IL22_uc010stb.1_Missense_Mutation_p.K61N	15	GBM-06-0129-TP	p.K61N	C	TGTATACCTCCTTAGCCAGCA	NM_020525	NP_065386	68647046	Q9GZX6	IL22_HUMAN	0	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)	1	236	-	G	G		Myeloproliferative disorder(1001;0.0255)	Missense_Mutation	61						
IL22	0	broad.mit.edu	GRCh37	12	68646552	68646552	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01	TCGA-15-0742-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328087.4:c.244G>A	p.Gly82Arg	p.G82R	ENST00000328087	NM_020525.4	82	Gga/Aga	0			1			T	G/R	uc001sty.1	protein_coding		CCDS8982.1			244/540										0	c.(244-246)GGA>AGA			hmmpanther:PTHR14263:SF2,hmmpanther:PTHR14263,Pfam_domain:PF14565,Gene3D:1.20.1250.10,PIRSF_domain:PIRSF037726,Superfamily_domains:SSF47266,Prints_domain:PR01936	interleukin 22 precursor				ENSP00000329384		5-Feb									COSM3368929	5-Feb	.		ENST00000328087	Transcript			acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding	ENSG00000127318	g.chr12:68646552C>T	14900			MODERATE		2.19	medium	getma.org/?cm=msa&ty=f&p=IL22_HUMAN&rb=1&re=178&var=G82R	getma.org/pdb.php?prot=IL22_HUMAN&from=1&to=178&var=G82R	getma.org/?cm=var&var=hg19,12,68646552,C,T&fts=all	G82R	--	--	1																																		IL22_uc010stb.1_Missense_Mutation_p.G82R	1			benign(0.275)	p.G82R	NM_020525	NP_065386		deleterious(0.03)	1	IL22_HUMAN	IL22	HGNC	Q9GZX6	IL22_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)			2	297	-		Myeloproliferative disorder(1001;0.0255)	UPI0000034E46	82					SNV	IL22,missense_variant,p.Gly82Arg,ENST00000538666,;IL22,missense_variant,p.Gly82Arg,ENST00000328087,NM_020525.4;	uc001sty.1	c.244G>A	297/1147	1	1			c.244G>A						12	SNP	c.(244-246)GGA>AGA	1	1				0	Broad	interleukin 22 precursor			68646552		0.498	ENSG00000127318	7539	g.chr12:68646552C>T	acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding							170.989955	KEEP	18	43	-1	39	58	18	43	-1	172.937411	39	58	0.376712	1	0	0	0	0	1	0	0	0	--	--		0	T			IL22_uc010stb.1_Missense_Mutation_p.G82R	153	GBM-15-0742-TP	p.G82R	C	ACACTGACTCCGTGGAACAGT	NM_020525	NP_065386	68646552	Q9GZX6	IL22_HUMAN	0	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)	2	297	-	T	T		Myeloproliferative disorder(1001;0.0255)	Missense_Mutation	82						
IL22RA1	0	broad.mit.edu	GRCh37	1	24465095	24465095	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-2572-01	TCGA-41-2572-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000270800.1:c.153G>A	p.Thr51=	p.T51=	ENST00000270800	NM_021258.3	51	acG/acA	0			1			T	T	uc001biq.1	protein_coding	YES	CCDS247.1			153/1725									skin(1)	1	c.(151-153)ACG>ACA			PROSITE_profiles:PS50853,hmmpanther:PTHR20859:SF20,hmmpanther:PTHR20859,Gene3D:2.60.40.10,Pfam_domain:PF01108,Superfamily_domains:SSF49265	interleukin 22 receptor, alpha 1 precursor				ENSP00000270800		7-Feb	2.47E-05					3.00E-05		6.06E-05	rs780847323,COSM3400562	7-Feb	.		ENST00000270800	Transcript				integral to membrane	interferon receptor activity	ENSG00000142677	g.chr1:24465095C>T	13700			LOW								--	--	1																																		IL22RA1_uc010oeg.1_5'Flank|IL22RA1_uc009vrb.1_5'UTR|IL22RA1_uc010oeh.1_Silent_p.T51T	0,1	1			p.T51T	NM_021258	NP_067081			0,1	I22R1_HUMAN	IL22RA1	HGNC	Q8N6P7	I22R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)			2	192	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	UPI0000071143	51			Extracellular (Potential).|Fibronectin type-III 1.		SNV	IL22RA1,synonymous_variant,p.=,ENST00000270800,NM_021258.3;	uc001biq.1	c.153G>A	192/2798	1	1			c.153G>A						1	SNP	c.(151-153)ACG>ACA	12	12			skin(1)	1	Broad	interleukin 22 receptor, alpha 1 precursor			24465095		0.567	ENSG00000142677	7540	g.chr1:24465095C>T		integral to membrane	interferon receptor activity							39.06468	KEEP	17	11	-1	27	36	17	11	-1	43.982842	27	36	0.225352	1	0	0	0	0	0	0	1	0	--	--		0	T			IL22RA1_uc010oeg.1_5'Flank|IL22RA1_uc009vrb.1_5'UTR|IL22RA1_uc010oeh.1_Silent_p.T51T	251	GBM-41-2572-TP	p.T51T	C	TGCTGTAGACCGTGTCTGGGG	NM_021258	NP_067081	24465095	Q8N6P7	I22R1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)	2	192	-	T	T		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	Silent	51			Extracellular (Potential).|Fibronectin type-III 1.			
IL22RA2	0	broad.mit.edu	GRCh37	6	137482860	137482860	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-3476-01	TCGA-14-3476-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296980.2:c.27C>T	p.Gly9=	p.G9=	ENST00000296980	NM_052962.2	9	ggC/ggT	0			1			A	G	uc003qhl.2	protein_coding	YES	CCDS5182.1			27/792										0	c.(25-27)GGC>GGT			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF51,Pfam_domain:PF01108	interleukin 22-binding protein isoform 1				ENSP00000296980		7-Feb	3.29E-05							0.000255	rs770829398,COSM3410614	7-Feb	.		ENST00000296980	Transcript			regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity	ENSG00000164485	g.chr6:137482860G>A	14901			LOW								--	--	1																																		IL22RA2_uc003qhm.2_Silent_p.G9G|IL22RA2_uc003qhn.2_Silent_p.G9G	0,1	1			p.G9G	NM_052962	NP_443194			0,1	I22R2_HUMAN	IL22RA2	HGNC	Q969J5	I22R2_HUMAN		GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)			2	328	-	Colorectal(23;0.24)		UPI0000062347	9					SNV	IL22RA2,synonymous_variant,p.=,ENST00000296980,NM_052962.2;IL22RA2,synonymous_variant,p.=,ENST00000349184,NM_181309.1;IL22RA2,synonymous_variant,p.=,ENST00000339602,NM_181310.1;	uc003qhl.2	c.27C>T	328/2886	1	1			c.27C>T						6	SNP	c.(25-27)GGC>GGT	51	51				0	Broad	interleukin 22-binding protein isoform 1			137482860		0.413	ENSG00000164485	7541	g.chr6:137482860G>A	regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity							76.329738	KEEP	18	14	-1	30	20	18	14	-1	77.250042	30	20	0.376812	1	0	0	0	0	0	0	1	0	--	--		0	A			IL22RA2_uc003qhm.2_Silent_p.G9G|IL22RA2_uc003qhn.2_Silent_p.G9G	151	GBM-14-3476-TP	p.G9G	G	TGATGAGGAAGCCTAGAAAGC	NM_052962	NP_443194	137482860	Q969J5	I22R2_HUMAN	0		GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)	2	328	-	A	A	Colorectal(23;0.24)		Silent	9						
IL23A	51561		GRCh37	12	56733735	56733735	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000228534.4:c.417T>C	p.Gly139=	p.G139=	ENST00000228534	NM_016584.2	139	ggT/ggC	0																																																																																																																																																																																																																																												
IL26	55801	broad.mit.edu	GRCh37	12	68619233	68619233	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-6388-01	TCGA-06-6388-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000229134.4:c.219G>C	p.Lys73Asn	p.K73N	ENST00000229134	NM_018402.1	73	aaG/aaC	0			1			G	K/N	uc001stx.1	protein_coding	YES	CCDS8981.1			219/516										0	c.(217-219)AAG>AAC			Low_complexity_(Seg):seg,hmmpanther:PTHR11585,hmmpanther:PTHR11585:SF8,Pfam_domain:PF00726,Gene3D:1.20.1250.10,Superfamily_domains:SSF47266	interleukin 26 precursor				ENSP00000229134		5-Feb	8.24E-06			0.000147					rs781449971,COSM3399015	5-Feb	.		ENST00000229134	Transcript			cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity	ENSG00000111536	g.chr12:68619233C>G	17119			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=IL26_HUMAN&rb=5&re=168&var=K73N	getma.org/pdb.php?prot=IL26_HUMAN&from=5&to=168&var=K73N	getma.org/?cm=var&var=hg19,12,68619233,C,G&fts=all	K73N	--	--	1																																			0,1	1		benign(0.037)	p.K73N	NM_018402	NP_060872		tolerated(0.23)	0,1	IL26_HUMAN	IL26	HGNC	Q9NPH9	IL26_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)			2	254	-			UPI0000035828	73					SNV	IL26,missense_variant,p.Lys73Asn,ENST00000229134,NM_018402.1;IFNG-AS1,intron_variant,,ENST00000536914,;	uc001stx.1	c.219G>C	284/1075	4	4			c.219G>C						12	SNP	c.(217-219)AAG>AAC	21	21				0	Broad	interleukin 26 precursor			68619233		0.274	ENSG00000111536	7546	g.chr12:68619233C>G	cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity							13.463067	KEEP	1	4	-1	7	10	1	4	-1	14.965078	7	10	0.227273	1	0	0	0	0	1	0	0	0	--	--		0	G				104	GBM-06-6388-TP	p.K73N	C	CCATAAACTGCTTTTTTGTTT	NM_018402	NP_060872	68619233	Q9NPH9	IL26_HUMAN	0	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)	2	254	-	G	G			Missense_Mutation	73						
IL27	246778	broad.mit.edu	GRCh37	16	28515112	28515112	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T			TCGA-06-2557-01	TCGA-06-2557-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356897.1:c.207G>A		p.X69_splice	ENST00000356897	NM_145659.3	69	gcG/gcA	0			1			T	A	uc002dqc.2	protein_coding	YES	CCDS10633.1			207/732										0	c.(205-207)GCG>GCA			hmmpanther:PTHR20879,hmmpanther:PTHR20879:SF0	interleukin 27 precursor				ENSP00000349365		5-Mar	1.65E-05					3.04E-05			rs764917281,COSM2152523	5-Mar	.		ENST00000356897	Transcript			inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding	ENSG00000197272	g.chr16:28515112C>T	19157			LOW								--	--	1																																		uc010vct.1_Intron	0,1	1			p.A69A	NM_145659	NP_663634			0,1	IL27A_HUMAN	IL27	HGNC	Q8NEV9	IL27A_HUMAN			H3BQY2_HUMAN		3	230	-			UPI0000141330	69					SNV	IL27,splice_region_variant,p.=,ENST00000356897,NM_145659.3;IL27,splice_region_variant,,ENST00000568075,;APOBR,downstream_gene_variant,,ENST00000564831,NM_018690.3;APOBR,downstream_gene_variant,,ENST00000328423,;	uc002dqc.2	c.207G>A	230/1044	2	2			c.207G>A						16	SNP	c.(205-207)GCG>GCA	28	28				0	Broad	interleukin 27 precursor			28515112		0.632	ENSG00000197272	7547	g.chr16:28515112C>T	inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding							36.851222	KEEP	8	9	-1	29	18	8	9	-1	40.014582	29	18	0.25	1	0	0	0	0	0	0	1	0	--	--		0	T			uc010vct.1_Intron	81	GBM-06-2557-TP	p.A69A	C	GGTGAGATTCCGCCTGGGGGG	NM_145659	NP_663634	28515112	Q8NEV9	IL27A_HUMAN	0			3	230	-	T	T			Silent	69						
IL27RA	9466	broad.mit.edu	GRCh37	19	14150709	14150709	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263379.2:c.521C>T	p.Ala174Val	p.A174V	ENST00000263379	NM_004843.3	174	gCg/gTg	0	T:0.0002	T:0	1	T:0		T	A/V	uc002mxx.2	protein_coding	YES	CCDS12303.1			521/1911										0	c.(520-522)GCG>GTG			Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265	class I cytokine receptor precursor		T:0.001	T:0	ENSP00000263379	T:0	14-Apr	8.24E-06		8.69E-05						rs201794701,COSM3281534	14-Apr	.		ENST00000263379	Transcript		T:0.0002	cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	ENSG00000104998	g.chr19:14150709C>T	17290			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=I27RA_HUMAN&rb=135&re=228&var=A174V	getma.org/pdb.php?prot=I27RA_HUMAN&from=135&to=228&var=A174V	getma.org/?cm=var&var=hg19,19,14150709,C,T&fts=all	A174V	--	--	1																																			0,1	1		benign(0.001)	p.A174V	NM_004843	NP_004834	T:0	tolerated(0.29)	0,1	I27RA_HUMAN	IL27RA	HGNC	Q6UWB1	I27RA_HUMAN					4	944	+			UPI0000039E1F	174			Extracellular (Potential).|Fibronectin type-III 1.		SNV	IL27RA,missense_variant,p.Ala174Val,ENST00000263379,NM_004843.3;	uc002mxx.2	c.521C>T	646/2677	2	2			c.521C>T						19	SNP	c.(520-522)GCG>GTG	35	35				0	Broad	class I cytokine receptor precursor			14150709		0.592	ENSG00000104998	7548	g.chr19:14150709C>T	cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	Colon(164;1849 1896 4443 37792 47834)			Colon(164;1849 1896 4443 37792 47834)			225.724227	KEEP	37	46	-1	21	24	37	46	-1	228.033376	21	24	0.657143	1	0	0	0	0	1	0	0	0	--	--		0	T				102	GBM-06-5858-TP	p.A174V	C	TGTCAGGAGGCGGCCTGGACC	NM_004843	NP_004834	14150709	Q6UWB1	I27RA_HUMAN	0			4	944	+	T	T			Missense_Mutation	174			Extracellular (Potential).|Fibronectin type-III 1.			
IL27RA	0	broad.mit.edu	GRCh37	19	14150321	14150321	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01	TCGA-19-5954-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263379.2:c.220C>T	p.Arg74Cys	p.R74C	ENST00000263379	NM_004843.3	74	Cgt/Tgt	0		A:0	1	A:0.0014		T	R/C	uc002mxx.2	protein_coding	YES	CCDS12303.1			220/1911										0	c.(220-222)CGT>TGT			hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF6	class I cytokine receptor precursor		A:0		ENSP00000263379	A:0	14-Mar	1.65E-05					1.52E-05	0.00115		rs201645440,COSM2156766	14-Mar	.		ENST00000263379	Transcript		A:0.0002	cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	ENSG00000104998	g.chr19:14150321C>T	17290			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=I27RA_HUMAN&rb=1&re=200&var=R74C	NA	getma.org/?cm=var&var=hg19,19,14150321,C,T&fts=all	R74C	--	--	1																																			0,1	1		possibly_damaging(0.613)	p.R74C	NM_004843	NP_004834	A:0	deleterious(0)	0,1	I27RA_HUMAN	IL27RA	HGNC	Q6UWB1	I27RA_HUMAN					3	643	+			UPI0000039E1F	74			Extracellular (Potential).		SNV	IL27RA,missense_variant,p.Arg74Cys,ENST00000263379,NM_004843.3;	uc002mxx.2	c.220C>T	345/2677	1	1			c.220C>T						19	SNP	c.(220-222)CGT>TGT	1	1				0	Broad	class I cytokine receptor precursor			14150321		0.547	ENSG00000104998	7548	g.chr19:14150321C>T	cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	Colon(164;1849 1896 4443 37792 47834)			Colon(164;1849 1896 4443 37792 47834)			85.175624	KEEP	17	17	-1	27	37	17	17	-1	86.542687	27	37	0.358974	1	0	0	0	0	1	0	0	0	--	--		0	T				174	GBM-19-5954-TP	p.R74C	C	TCCTCACAGCCGTTCCAACAA	NM_004843	NP_004834	14150321	Q6UWB1	I27RA_HUMAN	0			3	643	+	T	T			Missense_Mutation	74			Extracellular (Potential).			
IL2RB	3560	broad.mit.edu	GRCh37	22	37524874	37524874	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0155-01	TCGA-06-0155-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216223.5:c.918G>A	p.Ser306=	p.S306=	ENST00000216223	NM_000878.3	306	tcG/tcA	0			1			T	S	uc003aqv.1	protein_coding	YES	CCDS13942.1			918/1656										0	c.(916-918)TCG>TCA			hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF23,Low_complexity_(Seg):seg	interleukin 2 receptor beta precursor	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)			ENSP00000216223		10-Oct	8.24E-06					1.57E-05			rs751701712,COSM2150012	10-Oct	.		ENST00000216223	Transcript	1		interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	ENSG00000100385	g.chr22:37524874C>T	6009			LOW								--	--	1																																			0,1	1			p.S306S	NM_000878	NP_000869			0,1	IL2RB_HUMAN	IL2RB	HGNC	P14784	IL2RB_HUMAN			B0QYC2_HUMAN,B0QYC1_HUMAN,B0QYC0_HUMAN		10	1049	-			UPI000000128F	306			Cytoplasmic (Potential).		SNV	IL2RB,synonymous_variant,p.=,ENST00000216223,NM_000878.3;IL2RB,non_coding_transcript_exon_variant,,ENST00000483573,;	uc003aqv.1	c.918G>A	1117/4113	2	2			c.918G>A						22	SNP	c.(916-918)TCG>TCA	46	46				0	Broad	interleukin 2 receptor beta precursor		Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	37524874		0.607	ENSG00000100385	7554	g.chr22:37524874C>T	interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity							90.045017	KEEP	15	18	-1	26	18	15	18	-1	90.128429	26	18	0.461538	1	0	0	0	0	0	0	1	0	--	--		0	T				27	GBM-06-0155-TP	p.S306S	C	AGGGGAAGGGCGAAGAGAGCC	NM_000878	NP_000869	37524874	P14784	IL2RB_HUMAN	0			10	1049	-	T	T			Silent	306			Cytoplasmic (Potential).			
IL2RB	3560	broad.mit.edu	GRCh37	22	37524496	37524496	+	synonymous_variant	Silent	SNP	G	G	T	rs143704470		TCGA-06-2559-01	TCGA-06-2559-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216223.5:c.1296C>A	p.Pro432=	p.P432=	ENST00000216223	NM_000878.3	432	ccC/ccA	0	T:0.0002		1			T	P	uc003aqv.1	protein_coding	YES	CCDS13942.1			1296/1656										0	c.(1294-1296)CCC>CCA			hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF23,Low_complexity_(Seg):seg	interleukin 2 receptor beta precursor	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)		T:0	ENSP00000216223		10-Oct	3.30E-05	0.000247						0.000108	rs143704470,COSM3405653	10-Oct	.		ENST00000216223	Transcript	1		interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	ENSG00000100385	g.chr22:37524496G>T	6009			LOW								--	--	1																																			0,1	1			p.P432P	NM_000878	NP_000869			0,1	IL2RB_HUMAN	IL2RB	HGNC	P14784	IL2RB_HUMAN			B0QYC2_HUMAN,B0QYC1_HUMAN,B0QYC0_HUMAN		10	1427	-			UPI000000128F	432			Cytoplasmic (Potential).		SNV	IL2RB,synonymous_variant,p.=,ENST00000216223,NM_000878.3;IL2RB,downstream_gene_variant,,ENST00000483573,;	uc003aqv.1	c.1296C>A	1495/4113	2	2			c.1296C>A						22	SNP	c.(1294-1296)CCC>CCA	42	42				0	Broad	interleukin 2 receptor beta precursor		Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	37524496		0.662	ENSG00000100385	7554	g.chr22:37524496G>T	interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity							15.833252	KEEP	4	5	0.444444444	22	27	4	5	0.444444444	21.755728	22	27	0.163636	1	0	0	0	0	0	0	1	0	--	--		0	T				83	GBM-06-2559-TP	p.P432P	G	CGAGGAGACTGGGGGAGAAGA	NM_000878	NP_000869	37524496	P14784	IL2RB_HUMAN	0			10	1427	-	T	T			Silent	432			Cytoplasmic (Potential).			
IL3	3562	broad.mit.edu	GRCh37	5	131396547	131396547	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01	TCGA-06-5413-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296870.2:c.148C>T	p.Pro50Ser	p.P50S	ENST00000296870	NM_000588.3	50	Cct/Tct	0			1			T	P/S	uc003kwe.1	protein_coding	YES	CCDS4149.1			148/459									ovary(2)|central_nervous_system(1)	3	c.(148-150)CCT>TCT			Low_complexity_(Seg):seg,hmmpanther:PTHR10079,Pfam_domain:PF02059,Gene3D:1.20.1250.10,PIRSF_domain:PIRSF001939,Superfamily_domains:SSF47266	interleukin 3 precursor	Amlexanox(DB01025)			ENSP00000296870		5-Jan									COSM2153195	5-Jan	.		ENST00000296870	Transcript			cell-cell signaling|immune response|nervous system development|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding	ENSG00000164399	g.chr5:131396547C>T	6011			MODERATE		1.795	low	getma.org/?cm=msa&ty=f&p=IL3_HUMAN&rb=20&re=137&var=P50S	getma.org/pdb.php?prot=IL3_HUMAN&from=20&to=137&var=P50S	getma.org/?cm=var&var=hg19,5,131396547,C,T&fts=all	P50S	--	--	1																																			1	1		possibly_damaging(0.502)	p.P50S	NM_000588	NP_000579		deleterious(0)	1	IL3_HUMAN	IL3	HGNC	P08700	IL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)			1	201	+		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	UPI000002BEA8	50					SNV	IL3,missense_variant,p.Pro50Ser,ENST00000296870,NM_000588.3;	uc003kwe.1	c.148C>T	326/1050	2	2			c.148C>T						5	SNP	c.(148-150)CCT>TCT	35	35			ovary(2)|central_nervous_system(1)	3	Broad	interleukin 3 precursor		Amlexanox(DB01025)	131396547		0.522	ENSG00000164399	7556	g.chr5:131396547C>T	cell-cell signaling|immune response|nervous system development|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding			56			56	125.865558	KEEP	17	29	-1	37	39	17	29	-1	127.541969	37	39	0.372881	1	0	0	0	0	1	0	0	0	--	--		0	T				96	GBM-06-5413-TP	p.P50S	C	AAAGCAGCCACCTTTGCCTTT	NM_000588	NP_000579	131396547	P08700	IL3_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	1	201	+	T	T		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	Missense_Mutation	50						
IL31RA	133396	broad.mit.edu	GRCh37	5	55206410	55206410	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-02-2486-01	TCGA-02-2486-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000447346.2:c.1552C>T	p.Arg518Ter	p.R518*	ENST00000447346	NM_001242636.1	518	Cga/Tga	0			1			T	R/*	uc003jql.2	protein_coding	YES	CCDS3970.2			1552/2295									ovary(1)	1	c.(1552-1554)CGA>TGA			PROSITE_profiles:PS50853,hmmpanther:PTHR23036:SF83,hmmpanther:PTHR23036,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	gp130-like monocyte receptor				ENSP00000415900		15-Dec	8.24E-06					1.50E-05			rs760422651,COSM3344639,COSM3410324	15-Dec	.		ENST00000447346	Transcript	1		anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	ENSG00000164509	g.chr5:55206410C>T	18969			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,5,55206410,C,T&fts=all	R486*	--	--	1																																		IL31RA_uc003jqm.2_Nonsense_Mutation_p.R486*|IL31RA_uc003jqn.2_Nonsense_Mutation_p.R518*|IL31RA_uc010iwa.1_Nonsense_Mutation_p.R481*|IL31RA_uc003jqo.2_Nonsense_Mutation_p.R376*	0,1,1	1			p.R518*	NM_139017	NP_620586			0,1,1	IL31R_HUMAN	IL31RA	HGNC	Q8NI17	IL31R_HUMAN					12	1617	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	UPI00001A41DC	486			Extracellular (Potential).|Fibronectin type-III 5.		SNV	IL31RA,stop_gained,p.Arg499Ter,ENST00000396834,NM_001242638.1;IL31RA,stop_gained,p.Arg518Ter,ENST00000447346,NM_001242636.1,NM_139017.5;IL31RA,stop_gained,p.Arg518Ter,ENST00000359040,NM_001242637.1;IL31RA,stop_gained,p.Arg376Ter,ENST00000490985,NM_001242639.1;IL31RA,stop_gained,p.Arg499Ter,ENST00000354961,;IL31RA,downstream_gene_variant,,ENST00000396836,;IL31RA,downstream_gene_variant,,ENST00000297015,;	uc003jql.2	c.1552C>T	1617/2577	5	1			c.1552C>T						5	SNP	c.(1552-1554)CGA>TGA	4	4			ovary(1)	1	Broad	gp130-like monocyte receptor			55206410		0.458	ENSG00000164509	7558	g.chr5:55206410C>T	anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity							212.314618	KEEP	42	36	-1	53	65	42	36	-1	213.931287	53	65	0.4	1	0	0	0	0	0	1	0	0	--	--		0	T			IL31RA_uc003jqm.2_Nonsense_Mutation_p.R486*|IL31RA_uc003jqn.2_Nonsense_Mutation_p.R518*|IL31RA_uc010iwa.1_Nonsense_Mutation_p.R481*|IL31RA_uc003jqo.2_Nonsense_Mutation_p.R376*	8	GBM-02-2486-TP	p.R518*	C	GTCCCTGAAACGAAAGACCTC	NM_139017	NP_620586	55206410	Q8NI17	IL31R_HUMAN	0			12	1617	+	T	T		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	Nonsense_Mutation	486			Extracellular (Potential).|Fibronectin type-III 5.			
IL31RA	133396	broad.mit.edu	GRCh37	5	55204208	55204208	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-0237-01	TCGA-06-0237-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000447346.2:c.1470C>A	p.Ile490=	p.I490=	ENST00000447346	NM_001242636.1	490	atC/atA	0			1			A	I	uc003jql.2	protein_coding	YES	CCDS3970.2			1470/2295									ovary(1)	1	c.(1468-1470)ATC>ATA			PROSITE_profiles:PS50853,hmmpanther:PTHR23036:SF83,hmmpanther:PTHR23036,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	gp130-like monocyte receptor				ENSP00000415900		15-Nov									COSM2151046,COSM3410323,COSM2151047	15-Nov	.		ENST00000447346	Transcript	1		anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	ENSG00000164509	g.chr5:55204208C>A	18969			LOW								--	--	1																																		IL31RA_uc003jqk.2_Silent_p.I490I|IL31RA_uc011cqj.1_Silent_p.I348I|IL31RA_uc003jqm.2_Silent_p.I458I|IL31RA_uc003jqn.2_Silent_p.I490I|IL31RA_uc010iwa.1_Silent_p.I458I|IL31RA_uc003jqo.2_Silent_p.I348I	1,1,1	1			p.I490I	NM_139017	NP_620586			1,1,1	IL31R_HUMAN	IL31RA	HGNC	Q8NI17	IL31R_HUMAN					11	1535	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	UPI00001A41DC	458			Extracellular (Potential).|Fibronectin type-III 5.		SNV	IL31RA,synonymous_variant,p.=,ENST00000396834,NM_001242638.1;IL31RA,synonymous_variant,p.=,ENST00000447346,NM_001242636.1,NM_139017.5;IL31RA,synonymous_variant,p.=,ENST00000359040,NM_001242637.1;IL31RA,synonymous_variant,p.=,ENST00000396836,;IL31RA,synonymous_variant,p.=,ENST00000490985,NM_001242639.1;IL31RA,synonymous_variant,p.=,ENST00000297015,;IL31RA,synonymous_variant,p.=,ENST00000354961,;	uc003jql.2	c.1470C>A	1535/2577	2	2			c.1470C>A						5	SNP	c.(1468-1470)ATC>ATA	41	41			ovary(1)	1	Broad	gp130-like monocyte receptor			55204208		0.443	ENSG00000164509	7558	g.chr5:55204208C>A	anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity							104.640188	KEEP	17	24	0.585365854	29	47	17	24	0.585365854	106.772693	29	47	0.349057	1	0	0	0	0	0	0	1	0	--	--		0	A			IL31RA_uc003jqk.2_Silent_p.I490I|IL31RA_uc011cqj.1_Silent_p.I348I|IL31RA_uc003jqm.2_Silent_p.I458I|IL31RA_uc003jqn.2_Silent_p.I490I|IL31RA_uc010iwa.1_Silent_p.I458I|IL31RA_uc003jqo.2_Silent_p.I348I	54	GBM-06-0237-TP	p.I490I	C	ACTACACCATCTTTTACCAAG	NM_139017	NP_620586	55204208	Q8NI17	IL31R_HUMAN	0			11	1535	+	A	A		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	Silent	458			Extracellular (Potential).|Fibronectin type-III 5.			
IL31RA	0	broad.mit.edu	GRCh37	5	55210699	55210699	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-4097-01	TCGA-41-4097-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000447346.2:c.1761C>T	p.Pro587=	p.P587=	ENST00000447346	NM_001242636.1	587	ccC/ccT	0			1			T	P	uc003jql.2	protein_coding	YES	CCDS3970.2			1761/2295									ovary(1)	1	c.(1759-1761)CCC>CCT			hmmpanther:PTHR23036:SF83,hmmpanther:PTHR23036	gp130-like monocyte receptor				ENSP00000415900		14/15									COSM3410325,COSM3410326	14/15	.		ENST00000447346	Transcript	1		anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	ENSG00000164509	g.chr5:55210699C>T	18969			LOW								--	--	1																																		IL31RA_uc003jqm.2_Silent_p.P555P|IL31RA_uc003jqn.2_Silent_p.P587P|IL31RA_uc003jqo.2_Silent_p.P445P	1,1	1			p.P587P	NM_139017	NP_620586			1,1	IL31R_HUMAN	IL31RA	HGNC	Q8NI17	IL31R_HUMAN					14	1826	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	UPI00001A41DC	555			Cytoplasmic (Potential).		SNV	IL31RA,synonymous_variant,p.=,ENST00000396834,NM_001242638.1;IL31RA,synonymous_variant,p.=,ENST00000447346,NM_001242636.1,NM_139017.5;IL31RA,synonymous_variant,p.=,ENST00000359040,NM_001242637.1;IL31RA,synonymous_variant,p.=,ENST00000490985,NM_001242639.1;IL31RA,synonymous_variant,p.=,ENST00000354961,;	uc003jql.2	c.1761C>T	1826/2577	2	2			c.1761C>T						5	SNP	c.(1759-1761)CCC>CCT	24	24			ovary(1)	1	Broad	gp130-like monocyte receptor			55210699		0.423	ENSG00000164509	7558	g.chr5:55210699C>T	anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity							-21.980546	KEEP	2	1	-1	61	78	2	1	-1	6.600412	61	78	0.026087	1	0	0	0	0	0	0	1	0	--	--		0	T			IL31RA_uc003jqm.2_Silent_p.P555P|IL31RA_uc003jqn.2_Silent_p.P587P|IL31RA_uc003jqo.2_Silent_p.P445P	257	GBM-41-4097-TP	p.P587P	C	TGTGTTGGCCCACCGTTCCCA	NM_139017	NP_620586	55210699	Q8NI17	IL31R_HUMAN	0			14	1826	+	T	T		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	Silent	555			Cytoplasmic (Potential).			
IL31RA	133396		GRCh37	5	55203287	55203287	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000447346.2:c.1353C>T		p.X451_splice	ENST00000447346	NM_001242636.1	451	ggC/ggT	0																																																																																																																																																																																																																																												
IL32	9235	broad.mit.edu	GRCh37	16	3119304	3119305	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-06-5410-01	TCGA-06-5410-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000525643.2:c.515_516insG	p.Asp172GlufsTer12	p.D172Efs*12	ENST00000525643		172	gac/gaGc	0			1			G	D/EX	uc002cto.2	protein_coding					653-654/705									pancreas(1)	1	c.(652-654)GACfs				interleukin 32 isoform B				ENSP00000380099		6-Jun									rs398100042	6-Jun	.		ENST00000396890	Transcript			cell adhesion|defense response|immune response	extracellular space	cytokine activity	ENSG00000008517	g.chr16:3119304_3119305insG	16830			HIGH								--	--	1																																		IL32_uc002ctk.2_Frame_Shift_Ins_p.D115fs|IL32_uc010uwp.1_Frame_Shift_Ins_p.D152fs|IL32_uc010btb.2_Frame_Shift_Ins_p.D162fs|IL32_uc002ctl.2_Frame_Shift_Ins_p.D172fs|IL32_uc002ctm.2_Frame_Shift_Ins_p.D172fs|IL32_uc002ctn.2_Frame_Shift_Ins_p.D172fs|IL32_uc002cts.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctp.2_Frame_Shift_Ins_p.D152fs|IL32_uc002ctq.2_Frame_Shift_Ins_p.D218fs|IL32_uc002ctr.2_Frame_Shift_Ins_p.D152fs|IL32_uc002ctt.2_Frame_Shift_Ins_p.D172fs|IL32_uc010uwr.1_Frame_Shift_Ins_p.D132fs|IL32_uc002ctu.2_Frame_Shift_Ins_p.D163fs					p.D218fs	NM_004221	NP_004212				IL32_HUMAN	IL32	HGNC	P24001	IL32_HUMAN			F8VSD2_HUMAN,E9PIV2_HUMAN,C6GKH2_HUMAN		6	864_865	+			UPI0000070836	218					insertion	IL32,frameshift_variant,p.Asp172GlufsTer12,ENST00000525643,;IL32,frameshift_variant,p.Asp172GlufsTer12,ENST00000526464,;IL32,frameshift_variant,p.Asp218GlufsTer12,ENST00000534507,;IL32,frameshift_variant,p.Asp172GlufsTer12,ENST00000325568,NM_004221.4,NM_001012633.1,NM_001012718.1;IL32,frameshift_variant,p.Asp218GlufsTer12,ENST00000396890,;IL32,frameshift_variant,p.Asp152GlufsTer12,ENST00000008180,NM_001012634.1;IL32,frameshift_variant,p.Asp218GlufsTer12,ENST00000548476,;IL32,frameshift_variant,p.Asp172GlufsTer12,ENST00000528163,NM_001012631.1;IL32,frameshift_variant,p.Asp172GlufsTer12,ENST00000440815,;IL32,frameshift_variant,p.Asp172GlufsTer12,ENST00000444393,;IL32,frameshift_variant,p.Asp163GlufsTer12,ENST00000382213,NM_001012636.1;IL32,frameshift_variant,p.Asp172GlufsTer12,ENST00000533097,;IL32,frameshift_variant,p.Asp163GlufsTer12,ENST00000548652,;IL32,frameshift_variant,p.Asp218GlufsTer?,ENST00000548807,;IL32,frameshift_variant,p.Asp209GlufsTer12,ENST00000551513,;IL32,frameshift_variant,p.Asp115GlufsTer12,ENST00000396887,;IL32,frameshift_variant,p.Asp152GlufsTer12,ENST00000530890,NM_001012635.1;IL32,frameshift_variant,p.Asp172GlufsTer12,ENST00000529550,;IL32,frameshift_variant,p.Asp162GlufsTer12,ENST00000531965,;IL32,frameshift_variant,p.Asp115GlufsTer12,ENST00000551122,;IL32,frameshift_variant,p.Asp172GlufsTer12,ENST00000552664,NM_001012632.1;IL32,frameshift_variant,p.Asp196GlufsTer12,ENST00000552936,;IL32,frameshift_variant,p.Asp172GlufsTer12,ENST00000530538,;IL32,frameshift_variant,p.Asp152GlufsTer12,ENST00000529699,;IL32,frameshift_variant,p.Asp115GlufsTer12,ENST00000549213,;IL32,frameshift_variant,p.Asp152GlufsTer12,ENST00000552356,;IL32,frameshift_variant,p.Asp132GlufsTer12,ENST00000548246,;IL32,intron_variant,,ENST00000525377,;IL32,downstream_gene_variant,,ENST00000525228,;RNU1-125P,upstream_gene_variant,,ENST00000516752,;IL32,non_coding_transcript_exon_variant,,ENST00000525003,;IL32,non_coding_transcript_exon_variant,,ENST00000528652,;IL32,downstream_gene_variant,,ENST00000532247,;IL32,downstream_gene_variant,,ENST00000532086,;IL32,downstream_gene_variant,,ENST00000534748,;	uc002cto.2	c.653_654insG	730-731/1067	5	5			c.653_654insG						16	INS	c.(652-654)GACfs	33	33			pancreas(1)	1	Broad	interleukin 32 isoform B			3119305		0.574	ENSG00000008517	7559	g.chr16:3119304_3119305insG	cell adhesion|defense response|immune response	extracellular space	cytokine activity																				0.05	1	0	0	1	1	0	0	0	0	--	--		0	G			IL32_uc002ctk.2_Frame_Shift_Ins_p.D115fs|IL32_uc010uwp.1_Frame_Shift_Ins_p.D152fs|IL32_uc010btb.2_Frame_Shift_Ins_p.D162fs|IL32_uc002ctl.2_Frame_Shift_Ins_p.D172fs|IL32_uc002ctm.2_Frame_Shift_Ins_p.D172fs|IL32_uc002ctn.2_Frame_Shift_Ins_p.D172fs|IL32_uc002cts.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctp.2_Frame_Shift_Ins_p.D152fs|IL32_uc002ctq.2_Frame_Shift_Ins_p.D218fs|IL32_uc002ctr.2_Frame_Shift_Ins_p.D152fs|IL32_uc002ctt.2_Frame_Shift_Ins_p.D172fs|IL32_uc010uwr.1_Frame_Shift_Ins_p.D132fs|IL32_uc002ctu.2_Frame_Shift_Ins_p.D163fs	93	GBM-06-5410-TP	p.D218fs	-	CCACGGGGGGACAAGGAGGAGC	NM_004221	NP_004212	3119304	P24001	IL32_HUMAN	0			6	864_865	+	G	G			Frame_Shift_Ins	218						
IL32	0	broad.mit.edu	GRCh37	16	3119233	3119233	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-26-5135-01	TCGA-26-5135-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396890.2:c.582C>T	p.Phe194=	p.F194=	ENST00000396890		194	ttC/ttT	0			1			T	F	uc002cto.2	protein_coding					582/705									pancreas(1)	1	c.(580-582)TTC>TTT			Pfam_domain:PF15225	interleukin 32 isoform B				ENSP00000380099		6-Jun									COSM2157043	6-Jun	.		ENST00000396890	Transcript			cell adhesion|defense response|immune response	extracellular space	cytokine activity	ENSG00000008517	g.chr16:3119233C>T	16830			LOW								--	--	1																																		IL32_uc002ctk.2_Intron|IL32_uc010uwp.1_Silent_p.F128F|IL32_uc010btb.2_Silent_p.F138F|IL32_uc002ctl.2_Silent_p.F148F|IL32_uc002ctm.2_Silent_p.F148F|IL32_uc002ctn.2_Silent_p.F148F|IL32_uc002cts.3_Silent_p.F148F|IL32_uc002ctp.2_Silent_p.F128F|IL32_uc002ctq.2_Silent_p.F194F|IL32_uc002ctr.2_Silent_p.F128F|IL32_uc002ctt.2_Silent_p.F148F|IL32_uc010uwr.1_Silent_p.F108F|IL32_uc002ctu.2_Silent_p.F139F	1				p.F194F	NM_004221	NP_004212			1	IL32_HUMAN	IL32	HGNC	P24001	IL32_HUMAN			F8VSD2_HUMAN,E9PIV2_HUMAN,C6GKH2_HUMAN		6	793	+			UPI0000070836	194					SNV	IL32,synonymous_variant,p.=,ENST00000525643,;IL32,synonymous_variant,p.=,ENST00000526464,;IL32,synonymous_variant,p.=,ENST00000534507,;IL32,synonymous_variant,p.=,ENST00000325568,NM_004221.4,NM_001012633.1,NM_001012718.1;IL32,synonymous_variant,p.=,ENST00000396890,;IL32,synonymous_variant,p.=,ENST00000008180,NM_001012634.1;IL32,synonymous_variant,p.=,ENST00000548476,;IL32,synonymous_variant,p.=,ENST00000528163,NM_001012631.1;IL32,synonymous_variant,p.=,ENST00000440815,;IL32,synonymous_variant,p.=,ENST00000444393,;IL32,synonymous_variant,p.=,ENST00000382213,NM_001012636.1;IL32,synonymous_variant,p.=,ENST00000533097,;IL32,synonymous_variant,p.=,ENST00000548652,;IL32,synonymous_variant,p.=,ENST00000548807,;IL32,synonymous_variant,p.=,ENST00000551513,;IL32,synonymous_variant,p.=,ENST00000530890,NM_001012635.1;IL32,synonymous_variant,p.=,ENST00000529550,;IL32,synonymous_variant,p.=,ENST00000531965,;IL32,synonymous_variant,p.=,ENST00000552664,NM_001012632.1;IL32,synonymous_variant,p.=,ENST00000552936,;IL32,synonymous_variant,p.=,ENST00000530538,;IL32,synonymous_variant,p.=,ENST00000529699,;IL32,synonymous_variant,p.=,ENST00000552356,;IL32,synonymous_variant,p.=,ENST00000525228,;IL32,synonymous_variant,p.=,ENST00000548246,;IL32,intron_variant,,ENST00000396887,;IL32,intron_variant,,ENST00000551122,;IL32,intron_variant,,ENST00000525377,;IL32,intron_variant,,ENST00000549213,;RNU1-125P,upstream_gene_variant,,ENST00000516752,;IL32,non_coding_transcript_exon_variant,,ENST00000525003,;IL32,intron_variant,,ENST00000528652,;IL32,downstream_gene_variant,,ENST00000532247,;IL32,downstream_gene_variant,,ENST00000532086,;IL32,downstream_gene_variant,,ENST00000534748,;	uc002cto.2	c.582C>T	659/1067	2	2			c.582C>T						16	SNP	c.(580-582)TTC>TTT	17	17			pancreas(1)	1	Broad	interleukin 32 isoform B			3119233		0.612	ENSG00000008517	7559	g.chr16:3119233C>T	cell adhesion|defense response|immune response	extracellular space	cytokine activity							213.560261	KEEP	37	46	-1	68	80	37	46	-1	217.122574	68	80	0.360577	1	0	0	0	0	0	0	1	0	--	--		0	T			IL32_uc002ctk.2_Intron|IL32_uc010uwp.1_Silent_p.F128F|IL32_uc010btb.2_Silent_p.F138F|IL32_uc002ctl.2_Silent_p.F148F|IL32_uc002ctm.2_Silent_p.F148F|IL32_uc002ctn.2_Silent_p.F148F|IL32_uc002cts.3_Silent_p.F148F|IL32_uc002ctp.2_Silent_p.F128F|IL32_uc002ctq.2_Silent_p.F194F|IL32_uc002ctr.2_Silent_p.F128F|IL32_uc002ctt.2_Silent_p.F148F|IL32_uc010uwr.1_Silent_p.F108F|IL32_uc002ctu.2_Silent_p.F139F	184	GBM-26-5135-TP	p.F194F	C	GGAAACAGTTCCAGAGTTTCT	NM_004221	NP_004212	3119233	P24001	IL32_HUMAN	0			6	793	+	T	T			Silent	194						
IL34	0	broad.mit.edu	GRCh37	16	70693910	70693910	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-27-2527-01	TCGA-27-2527-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288098.2:c.549C>A	p.Ser183Arg	p.S183R	ENST00000288098	NM_001172772.1	183	agC/agA	0			1			A	S/R	uc002ezh.1	protein_coding		CCDS10895.1			549/729									central_nervous_system(1)|skin(1)	2	c.(547-549)AGC>AGA			Pfam_domain:PF15036	interleukin 34 precursor				ENSP00000288098		6-Jun									COSM3402448	6-Jun	.		ENST00000288098	Transcript			positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding	ENSG00000157368	g.chr16:70693910C>A	28529			MODERATE		2.3	medium	getma.org/?cm=msa&ty=f&p=IL34_HUMAN&rb=1&re=240&var=S183R	getma.org/pdb.php?prot=IL34_HUMAN&from=1&to=240&var=S183R	getma.org/?cm=var&var=hg19,16,70693910,C,A&fts=all	S183R	--	--	1																																		IL34_uc002ezi.1_Missense_Mutation_p.S182R	1			possibly_damaging(0.809)	p.S183R	NM_152456	NP_689669		deleterious(0.02)	1	IL34_HUMAN	IL34	HGNC	Q6ZMJ4	IL34_HUMAN			J3QQT3_HUMAN,H3BPB7_HUMAN		6	932	+			UPI000004C5C6	183					SNV	IL34,missense_variant,p.Ser183Arg,ENST00000429149,NM_152456.2,NM_001172771.1;IL34,missense_variant,p.Ser183Arg,ENST00000288098,NM_001172772.1;IL34,missense_variant,p.Ser158Arg,ENST00000566361,;MTSS1L,downstream_gene_variant,,ENST00000338779,NM_138383.2;FLJ00418,upstream_gene_variant,,ENST00000597002,;IL34,downstream_gene_variant,,ENST00000569641,;IL34,downstream_gene_variant,,ENST00000574181,;	uc002ezh.1	c.549C>A	932/1607	2	2			c.549C>A						16	SNP	c.(547-549)AGC>AGA	29	29			central_nervous_system(1)|skin(1)	2	Broad	interleukin 34 precursor			70693910		0.562	ENSG00000157368	7561	g.chr16:70693910C>A	positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding							89.154235	KEEP	35	36	0.507042254	216	218	35	36	0.507042254	140.075518	216	218	0.143885	1	0	0	0	0	1	0	0	0	--	--		0	A			IL34_uc002ezi.1_Missense_Mutation_p.S182R	204	GBM-27-2527-TP	p.S183R	C	GTAAACAAAGCTCCGTCCTAA	NM_152456	NP_689669	70693910	Q6ZMJ4	IL34_HUMAN	0			6	932	+	A	A			Missense_Mutation	183						
IL36A	0	broad.mit.edu	GRCh37	2	113764258	113764258	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01	TCGA-27-1836-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259211.6:c.208C>T	p.Leu70Phe	p.L70F	ENST00000259211	NM_014440.1	70	Ctc/Ttc	0			1			T	L/F	uc010yxr.1	protein_coding	YES	CCDS42734.1			208/477										0	c.(208-210)CTC>TTC			Low_complexity_(Seg):seg,hmmpanther:PTHR10078:SF14,hmmpanther:PTHR10078,Pfam_domain:PF00340,Gene3D:2.80.10.50,SMART_domains:SM00125,Superfamily_domains:SSF50353,Prints_domain:PR01359,Prints_domain:PR01357,Prints_domain:PR00264	interleukin 1 family, member 6 (epsilon)				ENSP00000259211		4-Mar									COSM3406798	4-Mar	.		ENST00000259211	Transcript			immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding	ENSG00000136694	g.chr2:113764258C>T	15562			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=IL36A_HUMAN&rb=1&re=158&var=L70F	getma.org/pdb.php?prot=IL36A_HUMAN&from=1&to=158&var=L70F	getma.org/?cm=var&var=hg19,2,113764258,C,T&fts=all	L70F	--	--	1																																			1	1		possibly_damaging(0.53)	p.L70F	NM_014440	NP_055255		deleterious(0)	1	IL36A_HUMAN	IL36A	HGNC	Q9UHA7	IL36A_HUMAN					3	208	+			UPI000003C9C1	70					SNV	IL36A,missense_variant,p.Leu70Phe,ENST00000259211,NM_014440.1;	uc010yxr.1	c.208C>T	619/888	2	2			c.208C>T						2	SNP	c.(208-210)CTC>TTC	43	43				0	Broad	interleukin 1 family, member 6 (epsilon)			113764258		0.512	ENSG00000136694	7521	g.chr2:113764258C>T	immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding							351.580929	KEEP	57	68	-1	124	130	57	68	-1	361.549173	124	130	0.32312	1	0	0	0	0	1	0	0	0	--	--		0	T				195	GBM-27-1836-TP	p.L70F	C	CCTGAATGGACTCAATCTCTG	NM_014440	NP_055255	113764258	Q9UHA7	IL36A_HUMAN	0			3	208	+	T	T			Missense_Mutation	70						
IL36B	27177	broad.mit.edu	GRCh37	2	113780342	113780342	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259213.4:c.404G>A	p.Trp135Ter	p.W135*	ENST00000259213	NM_014438.4	135	tGg/tAg	0			1			T	W/*	uc002tiq.1	protein_coding	YES	CCDS2109.1			404/495									ovary(1)	1	c.(403-405)TGG>TAG			Superfamily_domains:SSF50353	interleukin 1 family, member 8 isoform 1				ENSP00000259213		6-Jun									COSM3406800,COSM3406799	6-Jun	.		ENST00000259213	Transcript			immune response	extracellular space	cytokine activity|interleukin-1 receptor binding	ENSG00000136696	g.chr2:113780342C>T	15564			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,113780342,C,T&fts=all	W135*	--	--	1																																			1,1	1			p.W135*	NM_014438	NP_055253			1,1	IL36B_HUMAN	IL36B	HGNC	Q9NZH7	IL36B_HUMAN					6	508	-			UPI000003C9C0	135					SNV	IL36B,stop_gained,p.Trp135Ter,ENST00000259213,NM_014438.4;IL36B,downstream_gene_variant,,ENST00000327407,NM_173178.2;	uc002tiq.1	c.404G>A	512/1186	5	1			c.404G>A						2	SNP	c.(403-405)TGG>TAG	15	15			ovary(1)	1	Broad	interleukin 1 family, member 8 isoform 1			113780342		0.438	ENSG00000136696	7523	g.chr2:113780342C>T	immune response	extracellular space	cytokine activity|interleukin-1 receptor binding							85.057591	KEEP	18	15	-1	20	24	18	15	-1	85.65355	20	24	0.402778	1	0	0	0	0	0	1	0	0	--	--		0	T				65	GBM-06-0743-TP	p.W135*	C	GGAACTCTTCCACTTCTTTCT	NM_014438	NP_055253	113780342	Q9NZH7	IL36B_HUMAN	0			6	508	-	T	T			Nonsense_Mutation	135						
IL4I1	259307	broad.mit.edu	GRCh37	19	50397588	50397588	+	synonymous_variant	Silent	SNP	G	G	A	rs145616852	byFrequency	TCGA-06-0644-01	TCGA-06-0644-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000595948.1:c.570C>T	p.Tyr190=	p.Y190=	ENST00000595948	NM_001258018.1	190	taC/taT	0	A:0.002		1			A	Y	uc002pqt.1	protein_coding		CCDS12787.1			504/1704									lung(1)|ovary(1)|prostate(1)	3	c.(502-504)TAC>TAT			hmmpanther:PTHR10742:SF21,hmmpanther:PTHR10742,Gene3D:1.10.405.10,Pfam_domain:PF01593,Superfamily_domains:SSF51905	interleukin 4 induced 1 isoform 1 precursor			A:0	ENSP00000375702		8-May	0.000239	0.00184	0.000435	0.000348		1.51E-05		6.09E-05	rs145616852,COSM2151244	8-May	common_variant		ENST00000391826	Transcript				lysosome	L-amino-acid oxidase activity	ENSG00000104951	g.chr19:50397588G>A	19094			LOW								--	--	1																																		IL4I1_uc002pqv.1_Silent_p.Y177Y|IL4I1_uc010eno.1_Silent_p.Y176Y|IL4I1_uc002pqw.1_Silent_p.Y176Y|IL4I1_uc002pqu.1_Silent_p.Y190Y	0,1				p.Y168Y	NM_152899	NP_690863			0,1	OXLA_HUMAN	IL4I1	HGNC	Q96RQ9	OXLA_HUMAN		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	M0R2S9_HUMAN,M0QYH9_HUMAN		5	582	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	UPI00000359F4	168					SNV	IL4I1,synonymous_variant,p.=,ENST00000595948,NM_001258018.1;IL4I1,synonymous_variant,p.=,ENST00000341114,NM_001258017.1,NM_172374.2;IL4I1,synonymous_variant,p.=,ENST00000391826,NM_152899.1;IL4I1,synonymous_variant,p.=,ENST00000593956,;IL4I1,downstream_gene_variant,,ENST00000596022,;IL4I1,downstream_gene_variant,,ENST00000596011,;IL4I1,downstream_gene_variant,,ENST00000597295,;IL4I1,3_prime_UTR_variant,,ENST00000601717,;	uc002pqt.1	c.504C>T	647/1863	2	2			c.504C>T						19	SNP	c.(502-504)TAC>TAT	24	24			lung(1)|ovary(1)|prostate(1)	3	Broad	interleukin 4 induced 1 isoform 1 precursor			50397588		0.602	ENSG00000104951	7563	g.chr19:50397588G>A		lysosome	L-amino-acid oxidase activity							72.826793	KEEP	18	11	-1	32	24	18	11	-1	74.870062	32	24	0.329114	1	0	0	0	0	0	0	1	0	--	--		0	A			IL4I1_uc002pqv.1_Silent_p.Y177Y|IL4I1_uc010eno.1_Silent_p.Y176Y|IL4I1_uc002pqw.1_Silent_p.Y176Y|IL4I1_uc002pqu.1_Silent_p.Y190Y	58	GBM-06-0644-TP	p.Y168Y	G	GACGCAAGGCGTAGCCCAGCT	NM_152899	NP_690863	50397588	Q96RQ9	OXLA_HUMAN	0		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	5	582	-	A	A		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	Silent	168						
IL4I1	259307	broad.mit.edu	GRCh37	19	50392981	50392981	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-06-2562-01	TCGA-06-2562-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000595948.1:c.1716A>C	p.Pro572=	p.P572=	ENST00000595948	NM_001258018.1	572	ccA/ccC	0			1			G	P	uc002pqt.1	protein_coding		CCDS12787.1			1650/1704									lung(1)|ovary(1)|prostate(1)	3	c.(1648-1650)CCA>CCC				interleukin 4 induced 1 isoform 1 precursor				ENSP00000375702		8-Aug									COSM2152794	8-Aug	.		ENST00000391826	Transcript				lysosome	L-amino-acid oxidase activity	ENSG00000104951	g.chr19:50392981T>G	19094			LOW								--	--	1																																		IL4I1_uc002pqv.1_Silent_p.P559P|IL4I1_uc010eno.1_Silent_p.P558P|IL4I1_uc002pqw.1_Silent_p.P558P|IL4I1_uc002pqu.1_Silent_p.P572P	1				p.P550P	NM_152899	NP_690863			1	OXLA_HUMAN	IL4I1	HGNC	Q96RQ9	OXLA_HUMAN		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	M0R2S9_HUMAN,M0QYH9_HUMAN		8	1728	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	UPI00000359F4	550					SNV	IL4I1,synonymous_variant,p.=,ENST00000595948,NM_001258018.1;IL4I1,synonymous_variant,p.=,ENST00000341114,NM_001258017.1,NM_172374.2;IL4I1,synonymous_variant,p.=,ENST00000391826,NM_152899.1;TBC1D17,downstream_gene_variant,,ENST00000221543,NM_024682.2;TBC1D17,downstream_gene_variant,,ENST00000535102,NM_001168222.1;TBC1D17,downstream_gene_variant,,ENST00000599049,;IL4I1,downstream_gene_variant,,ENST00000593956,;MIR4750,downstream_gene_variant,,ENST00000584564,;IL4I1,3_prime_UTR_variant,,ENST00000601717,;TBC1D17,downstream_gene_variant,,ENST00000596243,;TBC1D17,downstream_gene_variant,,ENST00000600354,;TBC1D17,downstream_gene_variant,,ENST00000594984,;	uc002pqt.1	c.1650A>C	1793/1863	3	3			c.1650A>C						19	SNP	c.(1648-1650)CCA>CCC	1	1			lung(1)|ovary(1)|prostate(1)	3	Broad	interleukin 4 induced 1 isoform 1 precursor			50392981		0.602	ENSG00000104951	7563	g.chr19:50392981T>G		lysosome	L-amino-acid oxidase activity							96.268562	KEEP	19	25	-1	54	58	19	25	-1	101.012844	54	58	0.291667	1	0	0	0	0	0	0	1	0	--	--		0	G			IL4I1_uc002pqv.1_Silent_p.P559P|IL4I1_uc010eno.1_Silent_p.P558P|IL4I1_uc002pqw.1_Silent_p.P558P|IL4I1_uc002pqu.1_Silent_p.P572P	85	GBM-06-2562-TP	p.P550P	T	GGCCTTGGACTGGAGGGTGGC	NM_152899	NP_690863	50392981	Q96RQ9	OXLA_HUMAN	0		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	8	1728	-	G	G		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	Silent	550						
IL4R	3566	broad.mit.edu	GRCh37	16	27374339	27374339	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-6388-01	TCGA-06-6388-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395762.2:c.1666C>T	p.Arg556Ter	p.R556*	ENST00000395762	NM_000418.3	556	Cga/Tga	0			1			T	R/*	uc002don.2	protein_coding	YES	CCDS10629.1			1666/2478									ovary(1)|skin(1)	2	c.(1666-1668)CGA>TGA			hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF24	interleukin 4 receptor alpha chain isoform a				ENSP00000379111		11-Nov									COSM3402223	11-Nov	.		ENST00000395762	Transcript			immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	ENSG00000077238	g.chr16:27374339C>T	6015			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,16,27374339,C,T&fts=all	R556*	--	--	1																																		IL4R_uc002dop.3_Nonsense_Mutation_p.R541*|IL4R_uc010bxy.2_Nonsense_Mutation_p.R556*|IL4R_uc002doo.2_Nonsense_Mutation_p.R396*	1	1			p.R556*	NM_000418	NP_000409			1	IL4RA_HUMAN	IL4R	HGNC	P24394	IL4RA_HUMAN			J9JII2_HUMAN,H3BTD9_HUMAN,A1Z2K8_HUMAN		11	1908	+			UPI0000044371	556			Cytoplasmic (Potential).|Required for IRS1 activation and IL4- induced cell growth.		SNV	IL4R,stop_gained,p.Arg556Ter,ENST00000395762,NM_000418.3;IL4R,stop_gained,p.Arg556Ter,ENST00000543915,NM_001257997.1,NM_001257406.1;IL4R,stop_gained,p.Arg556Ter,ENST00000170630,;IL4R,stop_gained,p.Arg541Ter,ENST00000380922,NM_001257407.1;IL4R,intron_variant,,ENST00000565352,;IL4R,downstream_gene_variant,,ENST00000565179,;IL4R,downstream_gene_variant,,ENST00000565915,;IL4R,3_prime_UTR_variant,,ENST00000568746,;IL4R,downstream_gene_variant,,ENST00000563886,;	uc002don.2	c.1666C>T	1925/3685	5	2			c.1666C>T						16	SNP	c.(1666-1668)CGA>TGA	36	36			ovary(1)|skin(1)	2	Broad	interleukin 4 receptor alpha chain isoform a			27374339		0.637	ENSG00000077238	7564	g.chr16:27374339C>T	immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity							32.99107	KEEP	5	7	-1	16	12	5	7	-1	34.002511	16	12	0.324324	1	0	0	0	0	0	1	0	0	--	--		0	T			IL4R_uc002dop.3_Nonsense_Mutation_p.R541*|IL4R_uc010bxy.2_Nonsense_Mutation_p.R556*|IL4R_uc002doo.2_Nonsense_Mutation_p.R396*	104	GBM-06-6388-TP	p.R556*	C	GATCCTCCGCCGAAATGTCCT	NM_000418	NP_000409	27374339	P24394	IL4RA_HUMAN	0			11	1908	+	T	T			Nonsense_Mutation	556			Cytoplasmic (Potential).|Required for IRS1 activation and IL4- induced cell growth.			
IL4R	0	broad.mit.edu	GRCh37	16	27357926	27357926	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-16-0846-01	TCGA-16-0846-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395762.2:c.500A>T	p.Asn167Ile	p.N167I	ENST00000395762	NM_000418.3	167	aAc/aTc	0			1			T	N/I	uc002don.2	protein_coding	YES	CCDS10629.1			500/2478									ovary(1)|skin(1)	2	c.(499-501)AAC>ATC			Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF24,Superfamily_domains:SSF49265	interleukin 4 receptor alpha chain isoform a				ENSP00000379111		11-Jun									COSM3402218	11-Jun	.		ENST00000395762	Transcript			immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	ENSG00000077238	g.chr16:27357926A>T	6015			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=IL4RA_HUMAN&rb=123&re=219&var=N167I	getma.org/pdb.php?prot=IL4RA_HUMAN&from=123&to=219&var=N167I	getma.org/?cm=var&var=hg19,16,27357926,A,T&fts=all	N167I	--	--	1																																		IL4R_uc002dom.2_Missense_Mutation_p.N167I|IL4R_uc002dop.3_Missense_Mutation_p.N152I|IL4R_uc010bxy.2_Missense_Mutation_p.N167I|IL4R_uc002doo.2_Missense_Mutation_p.T9S	1	1		benign(0.01)	p.N167I	NM_000418	NP_000409		tolerated(0.07)	1	IL4RA_HUMAN	IL4R	HGNC	P24394	IL4RA_HUMAN			J9JII2_HUMAN,H3BTD9_HUMAN,A1Z2K8_HUMAN		6	742	+			UPI0000044371	167			Extracellular (Potential).|Fibronectin type-III.		SNV	IL4R,missense_variant,p.Asn167Ile,ENST00000395762,NM_000418.3;IL4R,missense_variant,p.Asn167Ile,ENST00000543915,NM_001257997.1,NM_001257406.1;IL4R,missense_variant,p.Asn167Ile,ENST00000170630,;IL4R,missense_variant,p.Asn152Ile,ENST00000380922,NM_001257407.1;IL4R,missense_variant,p.Asn167Ile,ENST00000449195,;IL4R,downstream_gene_variant,,ENST00000563002,;IL4R,downstream_gene_variant,,ENST00000562968,;IL4R,downstream_gene_variant,,ENST00000566117,;IL4R,downstream_gene_variant,,ENST00000562142,;IL4R,3_prime_UTR_variant,,ENST00000568746,;IL4R,non_coding_transcript_exon_variant,,ENST00000565696,;IL4R,intron_variant,,ENST00000566318,;IL4R,downstream_gene_variant,,ENST00000563787,;IL4R,downstream_gene_variant,,ENST00000561946,;IL4R,downstream_gene_variant,,ENST00000563926,;	uc002don.2	c.500A>T	759/3685	2	2			c.500A>T						16	SNP	c.(499-501)AAC>ATC	32	32			ovary(1)|skin(1)	2	Broad	interleukin 4 receptor alpha chain isoform a			27357926		0.542	ENSG00000077238	7564	g.chr16:27357926A>T	immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity							121.354379	KEEP	24	25	-1	49	52	24	25	-1	124.983185	49	52	0.325926	1	0	0	0	0	1	0	0	0	--	--		0	T			IL4R_uc002dom.2_Missense_Mutation_p.N167I|IL4R_uc002dop.3_Missense_Mutation_p.N152I|IL4R_uc010bxy.2_Missense_Mutation_p.N167I|IL4R_uc002doo.2_Missense_Mutation_p.T9S	155	GBM-16-0846-TP	p.N167I	A	TGGAGTGAAAACGACCCGGCA	NM_000418	NP_000409	27357926	P24394	IL4RA_HUMAN	0			6	742	+	T	T			Missense_Mutation	167			Extracellular (Potential).|Fibronectin type-III.			
IL4R	0	broad.mit.edu	GRCh37	16	27357789	27357789	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A			TCGA-27-1833-01	TCGA-27-1833-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395762.2:c.363G>A	p.Val121=	p.V121=	ENST00000395762	NM_000418.3	121	gtG/gtA	0			1			A	V	uc002don.2	protein_coding	YES	CCDS10629.1			363/2478									ovary(1)|skin(1)	2	c.(361-363)GTG>GTA			Gene3D:2.60.40.10,Pfam_domain:PF09238,hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF24,Superfamily_domains:SSF49265,Superfamily_domains:SSF49265	interleukin 4 receptor alpha chain isoform a				ENSP00000379111		11-Jun									COSM3402217	11-Jun	.		ENST00000395762	Transcript			immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	ENSG00000077238	g.chr16:27357789G>A	6015			LOW								--	--	1																																		IL4R_uc002dom.2_Silent_p.V121V|IL4R_uc002dop.3_Silent_p.V106V|IL4R_uc010bxy.2_Silent_p.V121V|IL4R_uc002doo.2_5'UTR	1	1			p.V121V	NM_000418	NP_000409			1	IL4RA_HUMAN	IL4R	HGNC	P24394	IL4RA_HUMAN			J9JII2_HUMAN,H3BTD9_HUMAN,A1Z2K8_HUMAN		6	605	+			UPI0000044371	121			Extracellular (Potential).		SNV	IL4R,splice_region_variant,p.=,ENST00000395762,NM_000418.3;IL4R,splice_region_variant,p.=,ENST00000543915,NM_001257997.1,NM_001257406.1;IL4R,splice_region_variant,p.=,ENST00000170630,;IL4R,splice_region_variant,p.=,ENST00000380922,NM_001257407.1;IL4R,splice_region_variant,p.=,ENST00000449195,;IL4R,downstream_gene_variant,,ENST00000563002,;IL4R,downstream_gene_variant,,ENST00000562968,;IL4R,downstream_gene_variant,,ENST00000566117,;IL4R,downstream_gene_variant,,ENST00000562142,;IL4R,splice_region_variant,,ENST00000568746,;IL4R,splice_region_variant,,ENST00000565696,;IL4R,intron_variant,,ENST00000566318,;IL4R,downstream_gene_variant,,ENST00000563787,;IL4R,downstream_gene_variant,,ENST00000561946,;IL4R,downstream_gene_variant,,ENST00000563926,;	uc002don.2	c.363G>A	622/3685	2	2			c.363G>A						16	SNP	c.(361-363)GTG>GTA	21	21			ovary(1)|skin(1)	2	Broad	interleukin 4 receptor alpha chain isoform a			27357789		0.567	ENSG00000077238	7564	g.chr16:27357789G>A	immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity							63.384806	KEEP	18	8	-1	22	34	18	8	-1	65.672283	22	34	0.315789	1	0	0	0	0	0	0	1	0	--	--		0	A			IL4R_uc002dom.2_Silent_p.V121V|IL4R_uc002dop.3_Silent_p.V106V|IL4R_uc010bxy.2_Silent_p.V121V|IL4R_uc002doo.2_5'UTR	192	GBM-27-1833-TP	p.V121V	G	CTCCCGCAGTGAAACCCAGGG	NM_000418	NP_000409	27357789	P24394	IL4RA_HUMAN	0			6	605	+	A	A			Silent	121			Extracellular (Potential).			
IL4R	0	broad.mit.edu	GRCh37	16	27363906	27363906	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395762.2:c.559G>A	p.Ala187Thr	p.A187T	ENST00000395762	NM_000418.3	187	Gca/Aca	0			1			A	A/T	uc002don.2	protein_coding	YES	CCDS10629.1			559/2478									ovary(1)|skin(1)	2	c.(559-561)GCA>ACA			Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF24,Superfamily_domains:SSF49265	interleukin 4 receptor alpha chain isoform a				ENSP00000379111		11-Jul	1.65E-05							0.000121	rs780006435,COSM3402219	11-Jul	.		ENST00000395762	Transcript			immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	ENSG00000077238	g.chr16:27363906G>A	6015			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=IL4RA_HUMAN&rb=123&re=219&var=A187T	getma.org/pdb.php?prot=IL4RA_HUMAN&from=123&to=219&var=A187T	getma.org/?cm=var&var=hg19,16,27363906,G,A&fts=all	A187T	--	--	1																																		IL4R_uc002dom.2_Missense_Mutation_p.A187T|IL4R_uc002dop.3_Missense_Mutation_p.A172T|IL4R_uc010bxy.2_Missense_Mutation_p.A187T|IL4R_uc002doo.2_Missense_Mutation_p.A27T	0,1	1		benign(0.001)	p.A187T	NM_000418	NP_000409		tolerated(0.42)	0,1	IL4RA_HUMAN	IL4R	HGNC	P24394	IL4RA_HUMAN			J9JII2_HUMAN,H3BTD9_HUMAN,A1Z2K8_HUMAN		7	801	+			UPI0000044371	187			Extracellular (Potential).|Fibronectin type-III.		SNV	IL4R,missense_variant,p.Ala187Thr,ENST00000395762,NM_000418.3;IL4R,missense_variant,p.Ala187Thr,ENST00000543915,NM_001257997.1,NM_001257406.1;IL4R,missense_variant,p.Ala187Thr,ENST00000170630,;IL4R,missense_variant,p.Ala172Thr,ENST00000380922,NM_001257407.1;IL4R,missense_variant,p.Ala187Thr,ENST00000449195,;IL4R,missense_variant,p.Ala13Thr,ENST00000565179,;IL4R,upstream_gene_variant,,ENST00000565352,;IL4R,upstream_gene_variant,,ENST00000565915,;IL4R,3_prime_UTR_variant,,ENST00000568746,;IL4R,3_prime_UTR_variant,,ENST00000566318,;IL4R,upstream_gene_variant,,ENST00000563886,;	uc002don.2	c.559G>A	818/3685	2	2			c.559G>A						16	SNP	c.(559-561)GCA>ACA	21	21			ovary(1)|skin(1)	2	Broad	interleukin 4 receptor alpha chain isoform a			27363906		0.592	ENSG00000077238	7564	g.chr16:27363906G>A	immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity							142.719279	KEEP	31	28	-1	76	72	31	28	-1	150.120478	76	72	0.288043	1	0	0	0	0	1	0	0	0	--	--		0	A			IL4R_uc002dom.2_Missense_Mutation_p.A187T|IL4R_uc002dop.3_Missense_Mutation_p.A172T|IL4R_uc010bxy.2_Missense_Mutation_p.A187T|IL4R_uc002doo.2_Missense_Mutation_p.A27T	232	GBM-32-1982-TP	p.A187T	G	CCTCCGCATCGCAGCCAGCAC	NM_000418	NP_000409	27363906	P24394	IL4RA_HUMAN	0			7	801	+	A	A			Missense_Mutation	187			Extracellular (Potential).|Fibronectin type-III.			
IL4R	0	broad.mit.edu	GRCh37	16	27374437	27374437	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-2575-01	TCGA-41-2575-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395762.2:c.1764G>A	p.Gln588=	p.Q588=	ENST00000395762	NM_000418.3	588	caG/caA	0			1			A	Q	uc002don.2	protein_coding	YES	CCDS10629.1			1764/2478									ovary(1)|skin(1)	2	c.(1762-1764)CAG>CAA			hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF24	interleukin 4 receptor alpha chain isoform a				ENSP00000379111		11-Nov									COSM3402224	11-Nov	.		ENST00000395762	Transcript			immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	ENSG00000077238	g.chr16:27374437G>A	6015			LOW								--	--	1																																		IL4R_uc002dop.3_Silent_p.Q573Q|IL4R_uc010bxy.2_Silent_p.Q588Q|IL4R_uc002doo.2_Silent_p.Q428Q	1	1			p.Q588Q	NM_000418	NP_000409			1	IL4RA_HUMAN	IL4R	HGNC	P24394	IL4RA_HUMAN			J9JII2_HUMAN,H3BTD9_HUMAN,A1Z2K8_HUMAN		11	2006	+			UPI0000044371	588			Required for IL4-induced gene expression.|Cytoplasmic (Potential).		SNV	IL4R,synonymous_variant,p.=,ENST00000395762,NM_000418.3;IL4R,synonymous_variant,p.=,ENST00000543915,NM_001257997.1,NM_001257406.1;IL4R,synonymous_variant,p.=,ENST00000170630,;IL4R,synonymous_variant,p.=,ENST00000380922,NM_001257407.1;IL4R,intron_variant,,ENST00000565352,;IL4R,downstream_gene_variant,,ENST00000565179,;IL4R,downstream_gene_variant,,ENST00000565915,;IL4R,3_prime_UTR_variant,,ENST00000568746,;IL4R,downstream_gene_variant,,ENST00000563886,;	uc002don.2	c.1764G>A	2023/3685	2	2			c.1764G>A						16	SNP	c.(1762-1764)CAG>CAA	45	45			ovary(1)|skin(1)	2	Broad	interleukin 4 receptor alpha chain isoform a			27374437		0.637	ENSG00000077238	7564	g.chr16:27374437G>A	immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity							-11.532056	KEEP	0	3	-1	40	47	0	3	-1	6.695226	40	47	0.037975	1	0	0	0	0	0	0	1	0	--	--		0	A			IL4R_uc002dop.3_Silent_p.Q573Q|IL4R_uc010bxy.2_Silent_p.Q588Q|IL4R_uc002doo.2_Silent_p.Q428Q	253	GBM-41-2575-TP	p.Q588Q	G	GTGGCACCCAGGCCAGTGCGG	NM_000418	NP_000409	27374437	P24394	IL4RA_HUMAN	0			11	2006	+	A	A			Silent	588			Required for IL4-induced gene expression.|Cytoplasmic (Potential).			
IL4R	0	broad.mit.edu	GRCh37	16	27373866	27373866	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-41-5651-01	TCGA-41-5651-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395762.2:c.1193G>C	p.Gly398Ala	p.G398A	ENST00000395762	NM_000418.3	398	gGa/gCa	0			1			C	G/A	uc002don.2	protein_coding	YES	CCDS10629.1			1193/2478									ovary(1)|skin(1)	2	c.(1192-1194)GGA>GCA			hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF24	interleukin 4 receptor alpha chain isoform a				ENSP00000379111		11-Nov									COSM3402221	11-Nov	.		ENST00000395762	Transcript			immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	ENSG00000077238	g.chr16:27373866G>C	6015			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=IL4RA_HUMAN&rb=281&re=824&var=G398A	NA	getma.org/?cm=var&var=hg19,16,27373866,G,C&fts=all	G398A	--	--	1																																		IL4R_uc002dop.3_Missense_Mutation_p.G383A|IL4R_uc010bxy.2_Missense_Mutation_p.G398A|IL4R_uc002doo.2_Missense_Mutation_p.G238A	1	1		benign(0.221)	p.G398A	NM_000418	NP_000409		deleterious(0.03)	1	IL4RA_HUMAN	IL4R	HGNC	P24394	IL4RA_HUMAN			J9JII2_HUMAN,H3BTD9_HUMAN,A1Z2K8_HUMAN		11	1435	+			UPI0000044371	398			Cytoplasmic (Potential).		SNV	IL4R,missense_variant,p.Gly398Ala,ENST00000395762,NM_000418.3;IL4R,missense_variant,p.Gly398Ala,ENST00000543915,NM_001257997.1,NM_001257406.1;IL4R,missense_variant,p.Gly398Ala,ENST00000170630,;IL4R,missense_variant,p.Gly383Ala,ENST00000380922,NM_001257407.1;IL4R,intron_variant,,ENST00000565352,;IL4R,downstream_gene_variant,,ENST00000565179,;IL4R,downstream_gene_variant,,ENST00000565915,;IL4R,3_prime_UTR_variant,,ENST00000568746,;IL4R,downstream_gene_variant,,ENST00000563886,;	uc002don.2	c.1193G>C	1452/3685	3	3			c.1193G>C						16	SNP	c.(1192-1194)GGA>GCA	15	15			ovary(1)|skin(1)	2	Broad	interleukin 4 receptor alpha chain isoform a			27373866		0.597	ENSG00000077238	7564	g.chr16:27373866G>C	immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity							93.82104	KEEP	14	14	-1	20	19	14	14	-1	93.951287	20	19	0.45	1	0	0	0	0	1	0	0	0	--	--		0	C			IL4R_uc002dop.3_Missense_Mutation_p.G383A|IL4R_uc010bxy.2_Missense_Mutation_p.G398A|IL4R_uc002doo.2_Missense_Mutation_p.G238A	258	GBM-41-5651-TP	p.G398A	G	TTCCAGGAGGGAAGGGAGGGC	NM_000418	NP_000409	27373866	P24394	IL4RA_HUMAN	0			11	1435	+	C	C			Missense_Mutation	398			Cytoplasmic (Potential).			
IL5RA	3568	broad.mit.edu	GRCh37	3	3139680	3139680	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000446632.2:c.583G>A	p.Ala195Thr	p.A195T	ENST00000446632	NM_175726.3	195	Gca/Aca	0		T:0	1	T:0		T	A/T	uc011ask.1	protein_coding		CCDS2559.1			583/1263									ovary(1)	1	c.(583-585)GCA>ACA			hmmpanther:PTHR23036:SF17,hmmpanther:PTHR23036,Pfam_domain:PF09240,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	interleukin 5 receptor, alpha isoform 1		T:0		ENSP00000256452	T:0	13-Aug	1.65E-05			0.000116				6.06E-05	rs569914205,COSM3408586,COSM3408587	13-Aug	.		ENST00000256452	Transcript		T:0.0002	cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	ENSG00000091181	g.chr3:3139680C>T	6017			MODERATE		2.52	medium	getma.org/?cm=msa&ty=f&p=IL5RA_HUMAN&rb=128&re=236&var=A195T	getma.org/pdb.php?prot=IL5RA_HUMAN&from=128&to=236&var=A195T	getma.org/?cm=var&var=hg19,3,3139680,C,T&fts=all	A195T	--	--	1																																		IL5RA_uc010hbq.2_Missense_Mutation_p.A195T|IL5RA_uc010hbr.2_Intron|IL5RA_uc010hbs.2_Missense_Mutation_p.A195T|IL5RA_uc011asl.1_Missense_Mutation_p.A195T|IL5RA_uc011asm.1_Missense_Mutation_p.A195T|IL5RA_uc010hbt.2_Missense_Mutation_p.A195T|IL5RA_uc011asn.1_Missense_Mutation_p.A195T|IL5RA_uc010hbu.2_Missense_Mutation_p.A195T	0,1,1			probably_damaging(0.934)	p.A195T	NM_000564	NP_000555	T:0.001	deleterious(0.03)	0,1,1	IL5RA_HUMAN	IL5RA	HGNC	Q01344	IL5RA_HUMAN		Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)	C9J6C4_HUMAN,C9J3K8_HUMAN		8	1227	-			UPI000013C656	195			Extracellular (Potential).		SNV	IL5RA,missense_variant,p.Ala195Thr,ENST00000446632,NM_175726.3;IL5RA,missense_variant,p.Ala195Thr,ENST00000438560,NM_001243099.1;IL5RA,missense_variant,p.Ala195Thr,ENST00000256452,NM_000564.4;IL5RA,missense_variant,p.Ala195Thr,ENST00000383846,NM_175728.2;IL5RA,missense_variant,p.Ala195Thr,ENST00000430514,NM_175724.2;IL5RA,missense_variant,p.Ala195Thr,ENST00000456302,NM_175727.2;IL5RA,missense_variant,p.Ala195Thr,ENST00000311981,NM_175725.2;IL5RA,missense_variant,p.Ala195Thr,ENST00000418488,;IL5RA,missense_variant,p.Ala195Thr,ENST00000445701,;IL5RA,intron_variant,,ENST00000445864,;IL5RA,downstream_gene_variant,,ENST00000427088,;SNORA43,upstream_gene_variant,,ENST00000517240,;	uc011ask.1	c.583G>A	833/2001	1	1			c.583G>A						3	SNP	c.(583-585)GCA>ACA	6	6			ovary(1)	1	Broad	interleukin 5 receptor, alpha isoform 1			3139680		0.483	ENSG00000091181	7566	g.chr3:3139680C>T	cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	GBM(169;430 2801 24955 28528)			GBM(169;430 2801 24955 28528)			292.191276	KEEP	45	55	-1	21	15	45	55	-1	298.151296	21	15	0.731707	1	0	0	0	0	1	0	0	0	--	--		0	T			IL5RA_uc010hbq.2_Missense_Mutation_p.A195T|IL5RA_uc010hbr.2_Intron|IL5RA_uc010hbs.2_Missense_Mutation_p.A195T|IL5RA_uc011asl.1_Missense_Mutation_p.A195T|IL5RA_uc011asm.1_Missense_Mutation_p.A195T|IL5RA_uc010hbt.2_Missense_Mutation_p.A195T|IL5RA_uc011asn.1_Missense_Mutation_p.A195T|IL5RA_uc010hbu.2_Missense_Mutation_p.A195T	102	GBM-06-5858-TP	p.A195T	C	AACCAGCATGCGATATTTCTC	NM_000564	NP_000555	3139680	Q01344	IL5RA_HUMAN	0		Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)	8	1227	-	T	T			Missense_Mutation	195			Extracellular (Potential).			
IL5RA	0	broad.mit.edu	GRCh37	3	3139898	3139898	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-16-1045-01	TCGA-16-1045-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256452.3:c.444A>G	p.Ser148=	p.S148=	ENST00000256452	NM_000564.4	148	tcA/tcG	0			1			C	S	uc011ask.1	protein_coding		CCDS2559.1			444/1263									ovary(1)	1	c.(442-444)TCA>TCG			hmmpanther:PTHR23036:SF17,hmmpanther:PTHR23036,Pfam_domain:PF09240,Gene3D:2.60.40.10,Superfamily_domains:SSF49265	interleukin 5 receptor, alpha isoform 1				ENSP00000256452		13-Jul									COSM3408588,COSM3408589	13-Jul	.		ENST00000256452	Transcript			cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	ENSG00000091181	g.chr3:3139898T>C	6017			LOW								--	--	1																																		IL5RA_uc010hbq.2_Silent_p.S148S|IL5RA_uc010hbr.2_Intron|IL5RA_uc010hbs.2_Silent_p.S148S|IL5RA_uc011asl.1_Silent_p.S148S|IL5RA_uc011asm.1_Silent_p.S148S|IL5RA_uc010hbt.2_Silent_p.S148S|IL5RA_uc011asn.1_Silent_p.S148S|IL5RA_uc010hbu.2_Silent_p.S148S	1,1				p.S148S	NM_000564	NP_000555			1,1	IL5RA_HUMAN	IL5RA	HGNC	Q01344	IL5RA_HUMAN		Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)	C9J6C4_HUMAN,C9J3K8_HUMAN		7	1088	-			UPI000013C656	148			Extracellular (Potential).		SNV	IL5RA,synonymous_variant,p.=,ENST00000446632,NM_175726.3;IL5RA,synonymous_variant,p.=,ENST00000438560,NM_001243099.1;IL5RA,synonymous_variant,p.=,ENST00000256452,NM_000564.4;IL5RA,synonymous_variant,p.=,ENST00000383846,NM_175728.2;IL5RA,synonymous_variant,p.=,ENST00000430514,NM_175724.2;IL5RA,synonymous_variant,p.=,ENST00000456302,NM_175727.2;IL5RA,synonymous_variant,p.=,ENST00000311981,NM_175725.2;IL5RA,synonymous_variant,p.=,ENST00000418488,;IL5RA,synonymous_variant,p.=,ENST00000445701,;IL5RA,intron_variant,,ENST00000445864,;IL5RA,downstream_gene_variant,,ENST00000427088,;SNORA43,upstream_gene_variant,,ENST00000517240,;	uc011ask.1	c.444A>G	694/2001	3	3			c.444A>G						3	SNP	c.(442-444)TCA>TCG	15	15			ovary(1)	1	Broad	interleukin 5 receptor, alpha isoform 1			3139898		0.413	ENSG00000091181	7566	g.chr3:3139898T>C	cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	GBM(169;430 2801 24955 28528)			GBM(169;430 2801 24955 28528)			4.962037	KEEP	6	8	-1	68	80	6	8	-1	31.171926	68	80	0.086093	1	0	0	0	0	0	0	1	0	--	--		0	C			IL5RA_uc010hbq.2_Silent_p.S148S|IL5RA_uc010hbr.2_Intron|IL5RA_uc010hbs.2_Silent_p.S148S|IL5RA_uc011asl.1_Silent_p.S148S|IL5RA_uc011asm.1_Silent_p.S148S|IL5RA_uc010hbt.2_Silent_p.S148S|IL5RA_uc011asn.1_Silent_p.S148S|IL5RA_uc010hbu.2_Silent_p.S148S	157	GBM-16-1045-TP	p.S148S	T	AAACTTGGTATGACCTTAAAC	NM_000564	NP_000555	3139898	Q01344	IL5RA_HUMAN	0		Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)	7	1088	-	C	C			Silent	148			Extracellular (Potential).			
IL6	0	broad.mit.edu	GRCh37	7	22769182	22769182	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-32-2634-01	TCGA-32-2634-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258743.5:c.374A>T	p.Tyr125Phe	p.Y125F	ENST00000258743	NM_000600.3	125	tAc/tTc	0			1			T	Y/F	uc011jyn.1	protein_coding		CCDS5375.1			374/639										0	c.(373-375)TAC>TTC			Gene3D:1.20.1250.10,Pfam_domain:PF00489,PIRSF_domain:PIRSF001935,Prints_domain:PR00433,PROSITE_patterns:PS00254,hmmpanther:PTHR11457,hmmpanther:PTHR11457:SF0,SMART_domains:SM00126,Superfamily_domains:SSF47266	interleukin 6 precursor	Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)			ENSP00000258743		5-Apr									COSM3411934,COSM3411935	5-Apr	.		ENST00000258743	Transcript	1		acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding	ENSG00000136244	g.chr7:22769182A>T	6018			MODERATE		1.645	low	getma.org/?cm=msa&ty=f&p=IL6_HUMAN&rb=57&re=210&var=Y125F	getma.org/pdb.php?prot=IL6_HUMAN&from=57&to=210&var=Y125F	getma.org/?cm=var&var=hg19,7,22769182,A,T&fts=all	Y125F	--	--	1																																		uc010kun.1_5'Flank|IL6_uc011jyo.1_Missense_Mutation_p.Y125F|IL6_uc011jyp.1_Missense_Mutation_p.Y49F|IL6_uc003svj.3_Missense_Mutation_p.Y125F|IL6_uc011jyq.1_Missense_Mutation_p.Y179F	1,1			possibly_damaging(0.831)	p.Y125F	NM_000600	NP_000591		tolerated(0.05)	1,1	IL6_HUMAN	IL6	HGNC	P05231	IL6_HUMAN			Q75MH2_HUMAN,H9C875_HUMAN,C9J5B0_HUMAN,B5MC21_HUMAN		5	833	+			UPI000002C4A6	125					SNV	IL6,missense_variant,p.Tyr125Phe,ENST00000404625,;IL6,missense_variant,p.Tyr179Phe,ENST00000420258,;IL6,missense_variant,p.Tyr125Phe,ENST00000258743,NM_000600.3;IL6,missense_variant,p.Tyr49Phe,ENST00000407492,;IL6,missense_variant,p.Tyr102Phe,ENST00000401630,;IL6,missense_variant,p.Tyr125Phe,ENST00000406575,;IL6,missense_variant,p.Tyr125Phe,ENST00000426291,;IL6,missense_variant,p.Tyr49Phe,ENST00000401651,;AC073072.5,upstream_gene_variant,,ENST00000325042,;IL6,non_coding_transcript_exon_variant,,ENST00000485300,;IL6,non_coding_transcript_exon_variant,,ENST00000464710,;	uc011jyn.1	c.374A>T	490/1170	2	2			c.374A>T						7	SNP	c.(373-375)TAC>TTC	46	46				0	Broad	interleukin 6 precursor		Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	22769182		0.443	ENSG00000136244	7567	g.chr7:22769182A>T	acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding	Esophageal Squamous(47;342 1214 13936 33513)			Esophageal Squamous(47;342 1214 13936 33513)			212.794824	KEEP	32	40	-1	40	45	32	40	-1	213.040119	40	45	0.456376	1	0	0	0	0	1	0	0	0	--	--		0	T			uc010kun.1_5'Flank|IL6_uc011jyo.1_Missense_Mutation_p.Y125F|IL6_uc011jyp.1_Missense_Mutation_p.Y49F|IL6_uc003svj.3_Missense_Mutation_p.Y125F|IL6_uc011jyq.1_Missense_Mutation_p.Y179F	241	GBM-32-2634-TP	p.Y125F	A	TTTGAGGTATACCTAGAGTAC	NM_000600	NP_000591	22769182	P05231	IL6_HUMAN	0			5	833	+	T	T			Missense_Mutation	125						
IL7	3574	broad.mit.edu	GRCh37	8	79710323	79710323	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01	TCGA-06-0169-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263851.4:c.131G>A	p.Ser44Asn	p.S44N	ENST00000263851	NM_001199886.1	44	aGc/aAc	0			1			T	S/N	uc003ybg.2	protein_coding	YES	CCDS6224.1			131/534										0	c.(130-132)AGC>AAC			Pfam_domain:PF01415,PIRSF_domain:PIRSF001942,Prints_domain:PR00435,hmmpanther:PTHR10526,SMART_domains:SM00127	interleukin 7 precursor				ENSP00000263851		6-Feb									rs751462790,COSM2150291,COSM3413127	6-Feb	.		ENST00000263851	Transcript			bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding	ENSG00000104432	g.chr8:79710323C>T	6023			MODERATE		0.625	neutral	getma.org/?cm=msa&ty=f&p=IL7_HUMAN&rb=28&re=173&var=S44N	getma.org/pdb.php?prot=IL7_HUMAN&from=28&to=173&var=S44N	getma.org/?cm=var&var=hg19,8,79710323,C,T&fts=all	S44N	--	--	1																																		IL7_uc003ybe.2_Missense_Mutation_p.S3N|IL7_uc011lfm.1_RNA|IL7_uc003ybh.2_Intron|IL7_uc003ybi.3_RNA	0,1,1	1		possibly_damaging(0.846)	p.S44N	NM_000880	NP_000871		tolerated(0.18)	0,1,1	IL7_HUMAN	IL7	HGNC	P13232	IL7_HUMAN			Q5FBY8_HUMAN,D0EYG7_HUMAN		2	732	-			UPI00000622F3	44					SNV	IL7,missense_variant,p.Ser44Asn,ENST00000263851,NM_001199886.1,NM_000880.3,NM_001199887.1;IL7,missense_variant,p.Ser44Asn,ENST00000379113,;IL7,missense_variant,p.Ser44Asn,ENST00000520269,;IL7,missense_variant,p.Ser44Asn,ENST00000518982,;IL7,non_coding_transcript_exon_variant,,ENST00000521323,;IL7,intron_variant,,ENST00000520317,;IL7,intron_variant,,ENST00000520215,;	uc003ybg.2	c.131G>A	732/2076	1	1			c.131G>A						8	SNP	c.(130-132)AGC>AAC	2	2				0	Broad	interleukin 7 precursor			79710323		0.353	ENSG00000104432	7570	g.chr8:79710323C>T	bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding							88.133341	KEEP	17	24	-1	66	66	17	24	-1	98.84471	66	66	0.225806	1	0	0	0	0	1	0	0	0	--	--		0	T			IL7_uc003ybe.2_Missense_Mutation_p.S3N|IL7_uc011lfm.1_RNA|IL7_uc003ybh.2_Intron|IL7_uc003ybi.3_RNA	34	GBM-06-0169-TP	p.S44N	C	TTGATCGATGCTGACCATTAG	NM_000880	NP_000871	79710323	P13232	IL7_HUMAN	0			2	732	-	T	T			Missense_Mutation	44						
IL7	0	broad.mit.edu	GRCh37	8	79645969	79645969	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-1838-01	TCGA-27-1838-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263851.4:c.513G>A	p.Leu171=	p.L171=	ENST00000263851	NM_001199886.1	171	ttG/ttA	0			1			T	L	uc003ybg.2	protein_coding	YES	CCDS6224.1			513/534										0	c.(511-513)TTG>TTA			Pfam_domain:PF01415,PIRSF_domain:PIRSF001942,Prints_domain:PR00435,hmmpanther:PTHR10526,SMART_domains:SM00127	interleukin 7 precursor				ENSP00000263851		6-Jun									COSM3413126	6-Jun	.		ENST00000263851	Transcript			bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding	ENSG00000104432	g.chr8:79645969C>T	6023			LOW								--	--	1																																		IL7_uc003ybe.2_Silent_p.L86L|IL7_uc011lfm.1_RNA|IL7_uc003ybh.2_RNA|IL7_uc003ybi.3_RNA	1	1			p.L171L	NM_000880	NP_000871			1	IL7_HUMAN	IL7	HGNC	P13232	IL7_HUMAN			Q5FBY8_HUMAN,D0EYG7_HUMAN		6	1114	-			UPI00000622F3	171					SNV	IL7,synonymous_variant,p.=,ENST00000263851,NM_001199886.1,NM_000880.3,NM_001199887.1;IL7,synonymous_variant,p.=,ENST00000520269,;IL7,synonymous_variant,p.=,ENST00000541183,;IL7,intron_variant,,ENST00000519833,;IL7,intron_variant,,ENST00000523959,;IL7,3_prime_UTR_variant,,ENST00000518982,;IL7,3_prime_UTR_variant,,ENST00000520317,;IL7,3_prime_UTR_variant,,ENST00000520215,;	uc003ybg.2	c.513G>A	1114/2076	2	2			c.513G>A						8	SNP	c.(511-513)TTG>TTA	33	33				0	Broad	interleukin 7 precursor			79645969		0.323	ENSG00000104432	7570	g.chr8:79645969C>T	bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding							-48.173086	KEEP	2	4	-1	128	133	2	4	-1	9.591785	128	133	0.025862	1	0	0	0	0	0	0	1	0	--	--		0	T			IL7_uc003ybe.2_Silent_p.L86L|IL7_uc011lfm.1_RNA|IL7_uc003ybh.2_RNA|IL7_uc003ybi.3_RNA	197	GBM-27-1838-TP	p.L171L	C	TAGTGCCCATCAAAATTTTAT	NM_000880	NP_000871	79645969	P13232	IL7_HUMAN	0			6	1114	-	T	T			Silent	171						
IL7R	3575	broad.mit.edu	GRCh37	5	35871249	35871249	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-6389-01	TCGA-06-6389-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303115.3:c.471G>C	p.Lys157Asn	p.K157N	ENST00000303115	NM_002185.3	157	aaG/aaC	0			1			C	K/N	uc003jjs.2	protein_coding	YES	CCDS3911.1			471/1380									ovary(3)|breast(1)|skin(1)	5	c.(469-471)AAG>AAC			Superfamily_domains:SSF49265,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF21,PROSITE_profiles:PS50853	interleukin 7 receptor precursor				ENSP00000306157		8-Apr									COSM2153418	8-Apr	.		ENST00000303115	Transcript	1		immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	ENSG00000168685	g.chr5:35871249G>C	6024			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=IL7RA_HUMAN&rb=130&re=218&var=K157N	getma.org/pdb.php?prot=IL7RA_HUMAN&from=130&to=218&var=K157N	getma.org/?cm=var&var=hg19,5,35871249,G,C&fts=all	K157N	--	--	1																																		IL7R_uc011coo.1_Missense_Mutation_p.K157N|IL7R_uc011cop.1_RNA	1	1		possibly_damaging(0.836)	p.K157N	NM_002185	NP_002176		deleterious(0.01)	1	IL7RA_HUMAN	IL7R	HGNC	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		D6RG28_HUMAN,D6RCR9_HUMAN		4	560	+	all_lung(31;0.00015)		UPI000013E861	157			Extracellular (Potential).|Fibronectin type-III.		SNV	IL7R,missense_variant,p.Lys157Asn,ENST00000303115,NM_002185.3;IL7R,missense_variant,p.Lys157Asn,ENST00000343305,;IL7R,missense_variant,p.Lys157Asn,ENST00000506850,;IL7R,upstream_gene_variant,,ENST00000505093,;IL7R,upstream_gene_variant,,ENST00000505875,;IL7R,downstream_gene_variant,,ENST00000511982,;IL7R,downstream_gene_variant,,ENST00000511031,;IL7R,missense_variant,p.Lys157Asn,ENST00000514217,;IL7R,upstream_gene_variant,,ENST00000509668,;	uc003jjs.2	c.471G>C	600/4626	3	3			c.471G>C						5	SNP	c.(469-471)AAG>AAC	50	50			ovary(3)|breast(1)|skin(1)	5	Broad	interleukin 7 receptor precursor			35871249		0.378	ENSG00000168685	7571	g.chr5:35871249G>C	immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity							35.372793	KEEP	7	6	-1	22	24	7	6	-1	38.826577	22	24	0.230769	1	0	0	0	0	1	0	0	0	--	--		0	C			IL7R_uc011coo.1_Missense_Mutation_p.K157N|IL7R_uc011cop.1_RNA	105	GBM-06-6389-TP	p.K157N	G	ACTTGCAAAAGAAGTATGTAA	NM_002185	NP_002176	35871249	P16871	IL7RA_HUMAN	0	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		4	560	+	C	C	all_lung(31;0.00015)		Missense_Mutation	157			Extracellular (Potential).|Fibronectin type-III.			
IL7R	3575		GRCh37	5	35876389	35876389	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000303115.3:c.1181G>A	p.Gly394Asp	p.G394D	ENST00000303115	NM_002185.3	394	gGc/gAc	0																																																																																																																																																																																																																																												
IL9R	3581		GRCh37	X	155239824	155239824	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000244174.5:c.1316A>G	p.Asn439Ser	p.N439S	ENST00000244174	NM_002186.2	439	aAc/aGc	0																																																																																																																																																																																																																																												
ILDR2	0	broad.mit.edu	GRCh37	1	166904584	166904584	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-27-1833-01	TCGA-27-1833-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271417.3:c.834T>A	p.His278Gln	p.H278Q	ENST00000271417	NM_199351.2	278	caT/caA	0			1			T	H/Q	uc001gdx.1	protein_coding	YES	CCDS1256.1			834/1920									ovary(1)	1	c.(832-834)CAT>CAA			hmmpanther:PTHR15923,hmmpanther:PTHR15923:SF0	immunoglobulin-like domain containing receptor				ENSP00000271417		10-Jun									COSM3399952	10-Jun	.		ENST00000271417	Transcript				integral to membrane		ENSG00000143195	g.chr1:166904584A>T	18131			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=ILDR2_HUMAN&rb=235&re=434&var=H278Q	NA	getma.org/?cm=var&var=hg19,1,166904584,A,T&fts=all	H278Q	--	--	1																																			1	1		probably_damaging(0.996)	p.H278Q	NM_199351	NP_955383		tolerated(0.36)	1	ILDR2_HUMAN	ILDR2	HGNC	Q71H61	ILDR2_HUMAN					6	890	-			UPI00002317DF	278			Cytoplasmic (Potential).		SNV	ILDR2,missense_variant,p.His278Gln,ENST00000271417,NM_199351.2;ILDR2,missense_variant,p.His259Gln,ENST00000529071,;ILDR2,missense_variant,p.His278Gln,ENST00000469934,;ILDR2,intron_variant,,ENST00000528703,;ILDR2,intron_variant,,ENST00000526687,;ILDR2,intron_variant,,ENST00000525740,;ILDR2,intron_variant,,ENST00000529387,;	uc001gdx.1	c.834T>A	890/8125	2	2			c.834T>A						1	SNP	c.(832-834)CAT>CAA	24	24			ovary(1)	1	Broad	immunoglobulin-like domain containing receptor			166904584		0.617	ENSG00000143195	7575	g.chr1:166904584A>T		integral to membrane								98.775793	KEEP	32	14	-1	44	40	32	14	-1	100.770741	44	40	0.344086	1	0	0	0	0	1	0	0	0	--	--		0	T				192	GBM-27-1833-TP	p.H278Q	A	AGGGAGGTGGATGCGGCTTGT	NM_199351	NP_955383	166904584	Q71H61	ILDR2_HUMAN	0			6	890	-	T	T			Missense_Mutation	278			Cytoplasmic (Potential).			
ILDR2	0	broad.mit.edu	GRCh37	1	166888604	166888604	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-2572-01	TCGA-41-2572-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271417.3:c.1908C>T	p.Ser636=	p.S636=	ENST00000271417	NM_199351.2	636	tcC/tcT	0			1			A	S	uc001gdx.1	protein_coding	YES	CCDS1256.1			1908/1920									ovary(1)	1	c.(1906-1908)TCC>TCT			hmmpanther:PTHR15923,hmmpanther:PTHR15923:SF0	immunoglobulin-like domain containing receptor				ENSP00000271417		10-Oct									COSM2185330	10-Oct	.		ENST00000271417	Transcript				integral to membrane		ENSG00000143195	g.chr1:166888604G>A	18131			LOW								--	--	1																																			1	1			p.S636S	NM_199351	NP_955383			1	ILDR2_HUMAN	ILDR2	HGNC	Q71H61	ILDR2_HUMAN					10	1964	-			UPI00002317DF	636			Cytoplasmic (Potential).		SNV	ILDR2,missense_variant,p.Pro412Leu,ENST00000469934,;ILDR2,synonymous_variant,p.=,ENST00000271417,NM_199351.2;ILDR2,synonymous_variant,p.=,ENST00000529071,;ILDR2,synonymous_variant,p.=,ENST00000528703,;ILDR2,synonymous_variant,p.=,ENST00000526687,;ILDR2,synonymous_variant,p.=,ENST00000525740,;ILDR2,3_prime_UTR_variant,,ENST00000529387,;	uc001gdx.1	c.1908C>T	1964/8125	2	2			c.1908C>T						1	SNP	c.(1906-1908)TCC>TCT	24	24			ovary(1)	1	Broad	immunoglobulin-like domain containing receptor			166888604		0.438	ENSG00000143195	7575	g.chr1:166888604G>A		integral to membrane								-6.305224	KEEP	1	2	-1	36	37	1	2	-1	7.024074	36	37	0.048387	1	0	0	0	0	0	0	1	0	--	--		0	A				251	GBM-41-2572-TP	p.S636S	G	AGACCACAAGGGACATCCTGG	NM_199351	NP_955383	166888604	Q71H61	ILDR2_HUMAN	0			10	1964	-	A	A			Silent	636			Cytoplasmic (Potential).			
ILF3	3609	broad.mit.edu	GRCh37	19	10789305	10789305	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-02-0003-01	TCGA-02-0003-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449870.1:c.576C>T	p.Asn192=	p.N192=	ENST00000449870	NM_017620.2	192	aaC/aaT	0			1			T	N	uc002mpn.2	protein_coding		CCDS12246.1			576/2685									ovary(3)	3	c.(574-576)AAC>AAT			PROSITE_profiles:PS51703,hmmpanther:PTHR10910:SF34,hmmpanther:PTHR10910,Pfam_domain:PF07528,SMART_domains:SM00572	interleukin enhancer binding factor 3 isoform a				ENSP00000468156		19-May									COSM1390184,COSM2148903,COSM3371137	19-May	.		ENST00000590261	Transcript			M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding	ENSG00000129351	g.chr19:10789305C>T	6038			LOW								--	--	1																																		ILF3_uc002mpm.2_Silent_p.N192N|ILF3_uc002mpl.2_Silent_p.N192N|ILF3_uc002mpk.2_Silent_p.N192N|ILF3_uc010xli.1_Intron|ILF3_uc002mpo.2_Silent_p.N192N|ILF3_uc002mpp.2_Silent_p.N13N	1,1,1				p.N192N	NM_012218	NP_036350			1,1,1	ILF3_HUMAN	ILF3	HGNC	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		K7ERM6_HUMAN,K7ER69_HUMAN,K7EM82_HUMAN,K7EKJ9_HUMAN,K7EJ09_HUMAN		6	893	+			UPI0000163A87	192			DZF.		SNV	ILF3,synonymous_variant,p.=,ENST00000449870,NM_017620.2;ILF3,synonymous_variant,p.=,ENST00000318511,NM_012218.3;ILF3,synonymous_variant,p.=,ENST00000592763,;ILF3,synonymous_variant,p.=,ENST00000407004,NM_001137673.1;ILF3,synonymous_variant,p.=,ENST00000420083,NM_004516.3,NM_153464.2;ILF3,synonymous_variant,p.=,ENST00000590261,;ILF3,synonymous_variant,p.=,ENST00000250241,;ILF3,synonymous_variant,p.=,ENST00000588657,;ILF3,synonymous_variant,p.=,ENST00000589998,;ILF3,synonymous_variant,p.=,ENST00000590009,;ILF3,downstream_gene_variant,,ENST00000589600,;ILF3,upstream_gene_variant,,ENST00000593061,;ILF3,synonymous_variant,p.=,ENST00000585835,;ILF3,3_prime_UTR_variant,,ENST00000589052,;ILF3,non_coding_transcript_exon_variant,,ENST00000587928,;ILF3,intron_variant,,ENST00000587505,;ILF3,intron_variant,,ENST00000589416,;ILF3,intron_variant,,ENST00000587840,;ILF3,intron_variant,,ENST00000589485,;ILF3,upstream_gene_variant,,ENST00000589173,;	uc002mpn.2	c.576C>T	576/3219	2	2			c.576C>T						19	SNP	c.(574-576)AAC>AAT	19	19			ovary(3)	3	Broad	interleukin enhancer binding factor 3 isoform a			10789305		0.502	ENSG00000129351	7577	g.chr19:10789305C>T	M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding							207.452645	KEEP	48	35	-1	72	58	48	35	-1	208.961678	72	58	0.404255	1	0	0	0	0	0	0	1	0	--	--		0	T			ILF3_uc002mpm.2_Silent_p.N192N|ILF3_uc002mpl.2_Silent_p.N192N|ILF3_uc002mpk.2_Silent_p.N192N|ILF3_uc010xli.1_Intron|ILF3_uc002mpo.2_Silent_p.N192N|ILF3_uc002mpp.2_Silent_p.N13N	1	GBM-02-0003-TP	p.N192N	C	TATCAGTCAACGACCCCCCGG	NM_012218	NP_036350	10789305	Q12906	ILF3_HUMAN	0	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		6	893	+	T	T			Silent	192			DZF.			
ILF3	0	broad.mit.edu	GRCh37	19	10794068	10794068	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-16-0846-01	TCGA-16-0846-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000590261.1:c.1701A>G	p.Gln567=	p.Q567=	ENST00000590261		567	caA/caG	0			1			G	Q	uc002mpn.2	protein_coding		CCDS12246.1			1701/2685									ovary(3)	3	c.(1699-1701)CAA>CAG			PROSITE_profiles:PS50137,hmmpanther:PTHR10910:SF34,hmmpanther:PTHR10910,Pfam_domain:PF00035,Gene3D:3.30.160.20,SMART_domains:SM00358,Superfamily_domains:SSF54768	interleukin enhancer binding factor 3 isoform a				ENSP00000468156		14/19									COSM3403729,COSM3403730,COSM3403731	14/19	.		ENST00000590261	Transcript			M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding	ENSG00000129351	g.chr19:10794068A>G	6038			LOW								--	--	1																																		ILF3_uc002mpm.2_Silent_p.Q571Q|ILF3_uc002mpl.2_Silent_p.Q567Q|ILF3_uc002mpk.2_Silent_p.Q567Q|ILF3_uc010xli.1_Silent_p.Q165Q|ILF3_uc002mpo.2_Silent_p.Q571Q|ILF3_uc002mpp.2_Silent_p.Q392Q|ILF3_uc002mpq.2_5'Flank	1,1,1				p.Q567Q	NM_012218	NP_036350			1,1,1	ILF3_HUMAN	ILF3	HGNC	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		K7ERM6_HUMAN,K7ER69_HUMAN,K7EM82_HUMAN,K7EKJ9_HUMAN,K7EJ09_HUMAN		15	2018	+			UPI0000163A87	567			DRBM 2.		SNV	ILF3,synonymous_variant,p.=,ENST00000449870,NM_017620.2;ILF3,synonymous_variant,p.=,ENST00000318511,NM_012218.3;ILF3,synonymous_variant,p.=,ENST00000592763,;ILF3,synonymous_variant,p.=,ENST00000407004,NM_001137673.1;ILF3,synonymous_variant,p.=,ENST00000420083,NM_004516.3,NM_153464.2;ILF3,synonymous_variant,p.=,ENST00000590261,;ILF3,synonymous_variant,p.=,ENST00000250241,;ILF3,synonymous_variant,p.=,ENST00000588657,;ILF3,synonymous_variant,p.=,ENST00000589998,;ILF3,downstream_gene_variant,,ENST00000590009,;ILF3,upstream_gene_variant,,ENST00000590869,;ILF3,upstream_gene_variant,,ENST00000593061,;ILF3,upstream_gene_variant,,ENST00000586544,;ILF3,non_coding_transcript_exon_variant,,ENST00000587928,;ILF3,upstream_gene_variant,,ENST00000591649,;ILF3,downstream_gene_variant,,ENST00000585835,;ILF3,downstream_gene_variant,,ENST00000587505,;ILF3,downstream_gene_variant,,ENST00000589416,;ILF3,downstream_gene_variant,,ENST00000587840,;ILF3,downstream_gene_variant,,ENST00000589052,;ILF3,downstream_gene_variant,,ENST00000589485,;ILF3,downstream_gene_variant,,ENST00000589173,;	uc002mpn.2	c.1701A>G	1701/3219	3	3			c.1701A>G						19	SNP	c.(1699-1701)CAA>CAG	59	59			ovary(3)	3	Broad	interleukin enhancer binding factor 3 isoform a			10794068		0.572	ENSG00000129351	7577	g.chr19:10794068A>G	M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding							118.784274	KEEP	13	24	-1	40	15	13	24	-1	119.419411	40	15	0.409091	1	0	0	0	0	0	0	1	0	--	--		0	G			ILF3_uc002mpm.2_Silent_p.Q571Q|ILF3_uc002mpl.2_Silent_p.Q567Q|ILF3_uc002mpk.2_Silent_p.Q567Q|ILF3_uc010xli.1_Silent_p.Q165Q|ILF3_uc002mpo.2_Silent_p.Q571Q|ILF3_uc002mpp.2_Silent_p.Q392Q|ILF3_uc002mpq.2_5'Flank	155	GBM-16-0846-TP	p.Q567Q	A	AGAAGTTCCAAGGTGCTGGTT	NM_012218	NP_036350	10794068	Q12906	ILF3_HUMAN	0	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		15	2018	+	G	G			Silent	567			DRBM 2.			
ILKAP	80895		GRCh37	2	239079263	239079263	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000254654.3:c.1093G>A	p.Ala365Thr	p.A365T	ENST00000254654	NM_030768.2	365	Gca/Aca	0																																																																																																																																																																																																																																												
IMPAD1	54928	broad.mit.edu	GRCh37	8	57878872	57878872	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01	TCGA-06-2564-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262644.4:c.686G>A	p.Arg229His	p.R229H	ENST00000262644	NM_017813.4	229	cGc/cAc	0			1			T	R/H	uc003xte.3	protein_coding	YES	CCDS6169.1			686/1080									ovary(1)	1	c.(685-687)CGC>CAC			Gene3D:3.30.540.10,Pfam_domain:PF00459,hmmpanther:PTHR20854,hmmpanther:PTHR20854:SF23,Superfamily_domains:SSF56655	inositol monophosphatase domain containing 1				ENSP00000262644		5-Apr	4.12E-05			0.000116		5.99E-05			rs758965196,COSM2152963	5-Apr	.		ENST00000262644	Transcript	1			Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding	ENSG00000104331	g.chr8:57878872C>T	26019			MODERATE		2.39	medium	getma.org/?cm=msa&ty=f&p=IMPA3_HUMAN&rb=62&re=355&var=R229H	getma.org/pdb.php?prot=IMPA3_HUMAN&from=62&to=355&var=R229H	getma.org/?cm=var&var=hg19,8,57878872,C,T&fts=all	R229H	--	--	1																																			0,1	1		probably_damaging(0.985)	p.R229H	NM_017813	NP_060283		deleterious(0.02)	0,1	IMPA3_HUMAN	IMPAD1	HGNC	Q9NX62	IMPA3_HUMAN					4	969	-		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)	UPI000006DE7A	229					SNV	IMPAD1,missense_variant,p.Arg229His,ENST00000262644,NM_017813.4;IMPAD1,intron_variant,,ENST00000517461,;IMPAD1,3_prime_UTR_variant,,ENST00000520392,;	uc003xte.3	c.686G>A	945/7199	2	2			c.686G>A						8	SNP	c.(685-687)CGC>CAC	45	45			ovary(1)	1	Broad	inositol monophosphatase domain containing 1			57878872		0.423	ENSG00000104331	7590	g.chr8:57878872C>T		Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding							187.538501	KEEP	35	35	-1	50	56	35	35	-1	188.553928	50	56	0.414013	1	0	0	0	0	1	0	0	0	--	--		0	T				87	GBM-06-2564-TP	p.R229H	C	GTAGGAAGAGCGGGCTTTCAC	NM_017813	NP_060283	57878872	Q9NX62	IMPA3_HUMAN	0			4	969	-	T	T		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)	Missense_Mutation	229						
IMPDH1	3614		GRCh37	7	128034510	128034510	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000338791.6:c.1694G>A	p.Arg565Gln	p.R565Q	ENST00000338791	NM_000883.3	565	cGg/cAg	0																																																																																																																																																																																																																																												
IMPDH2	0	broad.mit.edu	GRCh37	3	49062153	49062153	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-2527-01	TCGA-27-2527-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326739.4:c.1378C>T	p.Leu460=	p.L460=	ENST00000326739	NM_000884.2	460	Ctg/Ttg	0			1			A	L	uc003cvt.2	protein_coding	YES	CCDS2786.1			1378/1545									lung(1)	1	c.(1378-1380)CTG>TTG			HAMAP:MF_01964,Pfam_domain:PF00478,TIGRFAM_domain:TIGR01302,Gene3D:3.20.20.70,PIRSF_domain:PIRSF000130,Superfamily_domains:SSF51412	inosine monophosphate dehydrogenase 2	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)			ENSP00000321584		14-Dec									COSM3408735	14-Dec	.		ENST00000326739	Transcript			GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding	ENSG00000178035	g.chr3:49062153G>A	6053			LOW								--	--	1																																			1	1			p.L460L	NM_000884	NP_000875			1	IMDH2_HUMAN	IMPDH2	HGNC	P12268	IMDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Q6RUP9_HUMAN,Q6RUP8_HUMAN		12	1470	-			UPI000004A47A	460					SNV	IMPDH2,synonymous_variant,p.=,ENST00000326739,NM_000884.2;IMPDH2,synonymous_variant,p.=,ENST00000429182,;QRICH1,downstream_gene_variant,,ENST00000395443,NM_198880.1;DALRD3,upstream_gene_variant,,ENST00000440857,;NDUFAF3,downstream_gene_variant,,ENST00000326925,NM_199069.1;DALRD3,upstream_gene_variant,,ENST00000313778,NM_018114.5;IMPDH2,downstream_gene_variant,,ENST00000442157,;NDUFAF3,downstream_gene_variant,,ENST00000395458,NM_199073.1;NDUFAF3,downstream_gene_variant,,ENST00000451378,NM_199070.1;NDUFAF3,downstream_gene_variant,,ENST00000326912,NM_199074.1;MIR191,upstream_gene_variant,,ENST00000384873,;MIR425,upstream_gene_variant,,ENST00000362162,;RP13-131K19.6,upstream_gene_variant,,ENST00000607245,;DALRD3,upstream_gene_variant,,ENST00000496568,;DALRD3,upstream_gene_variant,,ENST00000492585,;IMPDH2,non_coding_transcript_exon_variant,,ENST00000481274,;IMPDH2,non_coding_transcript_exon_variant,,ENST00000466147,;IMPDH2,non_coding_transcript_exon_variant,,ENST00000484872,;IMPDH2,non_coding_transcript_exon_variant,,ENST00000472328,;IMPDH2,non_coding_transcript_exon_variant,,ENST00000463903,;IMPDH2,downstream_gene_variant,,ENST00000462980,;IMPDH2,downstream_gene_variant,,ENST00000485500,;IMPDH2,downstream_gene_variant,,ENST00000491610,;NDUFAF3,downstream_gene_variant,,ENST00000496152,;NDUFAF3,downstream_gene_variant,,ENST00000480392,;IMPDH2,downstream_gene_variant,,ENST00000496837,;	uc003cvt.2	c.1378C>T	1418/1643	1	1			c.1378C>T						3	SNP	c.(1378-1380)CTG>TTG	54	54			lung(1)	1	Broad	inosine monophosphate dehydrogenase 2		Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	49062153		0.552	ENSG00000178035	7592	g.chr3:49062153G>A	GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding							1.615933	KEEP	8	12	-1	113	139	8	12	-1	47.413625	113	139	0.076305	1	0	0	0	0	0	0	1	0	--	--		0	A				204	GBM-27-2527-TP	p.L460L	G	CCAGCAATCAGGTAAGGGACA	NM_000884	NP_000875	49062153	P12268	IMDH2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	12	1470	-	A	A			Silent	460						
IMPDH2	0	broad.mit.edu	GRCh37	3	49064276	49064276	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-2573-01	TCGA-41-2573-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326739.4:c.663C>T	p.Ile221=	p.I221=	ENST00000326739	NM_000884.2	221	atC/atT	0			1			A	I	uc003cvt.2	protein_coding	YES	CCDS2786.1			663/1545									lung(1)	1	c.(661-663)ATC>ATT			HAMAP:MF_01964,PROSITE_profiles:PS51371,hmmpanther:PTHR11911,hmmpanther:PTHR11911:SF64,Pfam_domain:PF00571,Pfam_domain:PF00478,TIGRFAM_domain:TIGR01302,Gene3D:3.20.20.70,PIRSF_domain:PIRSF000130,SMART_domains:SM00116,Superfamily_domains:SSF51412	inosine monophosphate dehydrogenase 2	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)			ENSP00000321584		14-Jul									COSM3408736	14-Jul	.		ENST00000326739	Transcript			GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding	ENSG00000178035	g.chr3:49064276G>A	6053			LOW								--	--	1																																			1	1			p.I221I	NM_000884	NP_000875			1	IMDH2_HUMAN	IMPDH2	HGNC	P12268	IMDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Q6RUP9_HUMAN,Q6RUP8_HUMAN		7	755	-			UPI000004A47A	221			CBS 2.		SNV	IMPDH2,synonymous_variant,p.=,ENST00000326739,NM_000884.2;IMPDH2,synonymous_variant,p.=,ENST00000429182,;IMPDH2,synonymous_variant,p.=,ENST00000442157,;QRICH1,downstream_gene_variant,,ENST00000395443,NM_198880.1;QRICH1,downstream_gene_variant,,ENST00000357496,NM_017730.2;QRICH1,downstream_gene_variant,,ENST00000424300,;NDUFAF3,downstream_gene_variant,,ENST00000326925,NM_199069.1;NDUFAF3,downstream_gene_variant,,ENST00000395458,NM_199073.1;NDUFAF3,downstream_gene_variant,,ENST00000451378,NM_199070.1;NDUFAF3,downstream_gene_variant,,ENST00000326912,NM_199074.1;RP13-131K19.6,upstream_gene_variant,,ENST00000607245,;DALRD3,upstream_gene_variant,,ENST00000496568,;DALRD3,upstream_gene_variant,,ENST00000492585,;IMPDH2,non_coding_transcript_exon_variant,,ENST00000462980,;IMPDH2,non_coding_transcript_exon_variant,,ENST00000491610,;QRICH1,downstream_gene_variant,,ENST00000498392,;QRICH1,downstream_gene_variant,,ENST00000489642,;IMPDH2,downstream_gene_variant,,ENST00000485500,;IMPDH2,upstream_gene_variant,,ENST00000481274,;NDUFAF3,downstream_gene_variant,,ENST00000496152,;NDUFAF3,downstream_gene_variant,,ENST00000480392,;IMPDH2,downstream_gene_variant,,ENST00000496837,;IMPDH2,upstream_gene_variant,,ENST00000466147,;IMPDH2,upstream_gene_variant,,ENST00000484872,;IMPDH2,upstream_gene_variant,,ENST00000472328,;IMPDH2,upstream_gene_variant,,ENST00000463903,;	uc003cvt.2	c.663C>T	703/1643	1	1			c.663C>T						3	SNP	c.(661-663)ATC>ATT	55	55			lung(1)	1	Broad	inosine monophosphate dehydrogenase 2		Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	49064276		0.527	ENSG00000178035	7592	g.chr3:49064276G>A	GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding							573.213035	KEEP	96	90	-1	33	31	96	90	-1	585.9653	33	31	0.744681	1	0	0	0	0	0	0	1	0	--	--		0	A				252	GBM-41-2573-TP	p.I221I	G	TCCGGGCAATGATGGCCACAA	NM_000884	NP_000875	49064276	P12268	IMDH2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	7	755	-	A	A			Silent	221			CBS 2.			
IMPG1	0	broad.mit.edu	GRCh37	6	76731930	76731930	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6700-01	TCGA-06-6700-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369950.3:c.569C>T	p.Ala190Val	p.A190V	ENST00000369950	NM_001563.2	190	gCc/gTc	0			1			A	A/V	uc003pik.1	protein_coding	YES	CCDS4985.1			569/2394									ovary(2)|skin(1)	3	c.(568-570)GCC>GTC			hmmpanther:PTHR12199	interphotoreceptor matrix proteoglycan 1				ENSP00000358966		17-Jun									COSM3411296	17-Jun	.		ENST00000369950	Transcript	1		visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	ENSG00000112706	g.chr6:76731930G>A	6055			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=IMPG1_HUMAN&rb=1&re=200&var=A190V	NA	getma.org/?cm=var&var=hg19,6,76731930,G,A&fts=all	A190V	--	--	1																																			1	1		benign(0.009)	p.A190V	NM_001563	NP_001554		tolerated(0.23)	1	IMPG1_HUMAN	IMPG1	HGNC	Q17R60	IMPG1_HUMAN			H0UI08_HUMAN		6	699	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	UPI0000073F12	190					SNV	IMPG1,missense_variant,p.Ala190Val,ENST00000369950,NM_001563.2,NM_001282368.1;IMPG1,3_prime_UTR_variant,,ENST00000369963,;	uc003pik.1	c.569C>T	759/3558	1	1			c.569C>T						6	SNP	c.(568-570)GCC>GTC	51	51			ovary(2)|skin(1)	3	Broad	interphotoreceptor matrix proteoglycan 1			76731930		0.378	ENSG00000112706	7593	g.chr6:76731930G>A	visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	Pancreas(37;839 1141 2599 26037)			Pancreas(37;839 1141 2599 26037)			25.162801	KEEP	6	6	-1	23	28	6	6	-1	30.392149	23	28	0.196721	1	0	0	0	0	1	0	0	0	--	--		0	A				114	GBM-06-6700-TP	p.A190V	G	TGAGACGTTGGCAACATCTGT	NM_001563	NP_001554	76731930	Q17R60	IMPG1_HUMAN	0			6	699	-	A	A		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	Missense_Mutation	190						
IMPG1	0	broad.mit.edu	GRCh37	6	76744406	76744406	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-14-3476-01	TCGA-14-3476-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369950.3:c.400A>G	p.Thr134Ala	p.T134A	ENST00000369950	NM_001563.2	134	Acc/Gcc	0			1			C	T/A	uc003pik.1	protein_coding	YES	CCDS4985.1			400/2394									ovary(2)|skin(1)	3	c.(400-402)ACC>GCC			hmmpanther:PTHR12199	interphotoreceptor matrix proteoglycan 1				ENSP00000358966		17-Mar									COSM3411297,COSM3411298	17-Mar	.		ENST00000369950	Transcript	1		visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	ENSG00000112706	g.chr6:76744406T>C	6055			MODERATE		1.81	low	getma.org/?cm=msa&ty=f&p=IMPG1_HUMAN&rb=1&re=200&var=T134A	NA	getma.org/?cm=var&var=hg19,6,76744406,T,C&fts=all	T134A	--	--	1																																			1,1	1		possibly_damaging(0.773)	p.T134A	NM_001563	NP_001554		deleterious(0)	1,1	IMPG1_HUMAN	IMPG1	HGNC	Q17R60	IMPG1_HUMAN			H0UI08_HUMAN		3	530	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	UPI0000073F12	134					SNV	IMPG1,missense_variant,p.Thr56Ala,ENST00000369963,;IMPG1,missense_variant,p.Thr134Ala,ENST00000369950,NM_001563.2,NM_001282368.1;	uc003pik.1	c.400A>G	590/3558	4	4			c.400A>G						6	SNP	c.(400-402)ACC>GCC	45	45			ovary(2)|skin(1)	3	Broad	interphotoreceptor matrix proteoglycan 1			76744406		0.498	ENSG00000112706	7593	g.chr6:76744406T>C	visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	Pancreas(37;839 1141 2599 26037)			Pancreas(37;839 1141 2599 26037)			196.248689	KEEP	26	37	-1	51	51	26	37	-1	198.525865	51	51	0.37013	1	0	0	0	0	1	0	0	0	--	--		0	C				151	GBM-14-3476-TP	p.T134A	T	AGGCAGAAGGTCTCCTGCTGG	NM_001563	NP_001554	76744406	Q17R60	IMPG1_HUMAN	0			3	530	-	C	C		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	Missense_Mutation	134						
IMPG1	0	broad.mit.edu	GRCh37	6	76751736	76751736	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-15-0742-01	TCGA-15-0742-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369950.3:c.175C>T	p.Arg59Ter	p.R59*	ENST00000369950	NM_001563.2	59	Cga/Tga	0		A:0	1	A:0		A	R/*	uc003pik.1	protein_coding	YES	CCDS4985.1			175/2394									ovary(2)|skin(1)	3	c.(175-177)CGA>TGA			hmmpanther:PTHR12199	interphotoreceptor matrix proteoglycan 1		A:0.001		ENSP00000358966	A:0	17-Feb	8.24E-06					1.50E-05			rs200651043,COSM3411299	17-Feb	.		ENST00000369950	Transcript	1	A:0.0002	visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	ENSG00000112706	g.chr6:76751736G>A	6055			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,6,76751736,G,A&fts=all	R59*	--	--	1																																			0,1	1			p.R59*	NM_001563	NP_001554	A:0		0,1	IMPG1_HUMAN	IMPG1	HGNC	Q17R60	IMPG1_HUMAN			H0UI08_HUMAN		2	305	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	UPI0000073F12	59					SNV	IMPG1,stop_gained,p.Arg59Ter,ENST00000369950,NM_001563.2,NM_001282368.1;IMPG1,intron_variant,,ENST00000369963,;	uc003pik.1	c.175C>T	365/3558	5	2			c.175C>T						6	SNP	c.(175-177)CGA>TGA	46	46			ovary(2)|skin(1)	3	Broad	interphotoreceptor matrix proteoglycan 1			76751736		0.363	ENSG00000112706	7593	g.chr6:76751736G>A	visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	Pancreas(37;839 1141 2599 26037)			Pancreas(37;839 1141 2599 26037)			338.700606	KEEP	54	52	-1	8	11	54	52	-1	352.628951	8	11	0.853448	1	0	0	0	0	0	1	0	0	--	--		0	A				153	GBM-15-0742-TP	p.R59*	G	TCGAATATTCGTCTCATAGTT	NM_001563	NP_001554	76751736	Q17R60	IMPG1_HUMAN	0			2	305	-	A	A		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	Nonsense_Mutation	59						
IMPG1	0	broad.mit.edu	GRCh37	6	76782168	76782169	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-32-2615-01	TCGA-32-2615-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369950.3:c.37dupT	p.Trp13LeufsTer15	p.W13Lfs*15	ENST00000369950	NM_001563.2	13	tgg/tTgg	0			1			A	W/LX	uc003pik.1	protein_coding	YES	CCDS4985.1			37-38/2394									ovary(2)|skin(1)	3	c.(37-39)TGGfs			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR12199	interphotoreceptor matrix proteoglycan 1				ENSP00000358966		17-Jan										17-Jan	.		ENST00000369950	Transcript	1		visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	ENSG00000112706	g.chr6:76782168_76782169insA	6055			HIGH								--	--	1																																				1			p.W13fs	NM_001563	NP_001554				IMPG1_HUMAN	IMPG1	HGNC	Q17R60	IMPG1_HUMAN			H0UI08_HUMAN		1	167_168	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	UPI0000073F12	13					insertion	IMPG1,frameshift_variant,p.Trp13LeufsTer29,ENST00000369963,;IMPG1,frameshift_variant,p.Trp13LeufsTer15,ENST00000369950,NM_001563.2,NM_001282368.1;	uc003pik.1	c.37_38insT	227-228/3558	5	5			c.37_38insT						6	INS	c.(37-39)TGGfs	27	27			ovary(2)|skin(1)	3	Broad	interphotoreceptor matrix proteoglycan 1			76782169		0.287	ENSG00000112706	7593	g.chr6:76782168_76782169insA	visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	Pancreas(37;839 1141 2599 26037)			Pancreas(37;839 1141 2599 26037)																0.61	1	0	0	1	1	0	0	0	0	--	--		0	A				239	GBM-32-2615-TP	p.W13fs	-	GAGAAAAATCCAAAAAACAAAA	NM_001563	NP_001554	76782168	Q17R60	IMPG1_HUMAN	0			1	167_168	-	A	A		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	Frame_Shift_Ins	13						
IMPG1	3617		GRCh37	6	76715225	76715225	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000369950.3:c.914C>T	p.Thr305Met	p.T305M	ENST00000369950	NM_001563.2	305	aCg/aTg	0																																																																																																																																																																																																																																												
INA	9118		GRCh37	10	105048271	105048273	+	inframe_deletion	In_Frame_Del	DEL	GAG	GAG	-			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000369849.4:c.1361_1363del	p.Glu454del	p.E454del	ENST00000369849	NM_032727.3	449	GAG/-	0																																																																																																																																																																																																																																												
INADL	0	broad.mit.edu	GRCh37	1	62228837	62228837	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-06-5412-01	TCGA-06-5412-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371158.2:c.175del	p.Gln59AsnfsTer2	p.Q59Nfs*2	ENST00000371158	NM_176877.2	59	Caa/aa	0			1			-	Q/X	uc001dab.2	protein_coding	YES	CCDS617.2			175/5406									ovary(3)|skin(1)	4	c.(175-177)CAAfs			Pfam_domain:PF09045,PROSITE_profiles:PS51022,hmmpanther:PTHR19964,hmmpanther:PTHR19964:SF11,SMART_domains:SM00569,Superfamily_domains:SSF101288	InaD-like				ENSP00000360200		Mar-43										Mar-43	.		ENST00000371158	Transcript			intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	ENSG00000132849	g.chr1:62228837delC	28881			HIGH								--	--	1																																		INADL_uc009waf.1_Frame_Shift_Del_p.Q59fs|INADL_uc001daa.2_Frame_Shift_Del_p.Q59fs		1			p.Q59fs	NM_176877	NP_795352				INADL_HUMAN	INADL	HGNC	Q8NI35	INADL_HUMAN					3	289	+			UPI0000204487	59			L27.		deletion	INADL,frameshift_variant,p.Gln59AsnfsTer2,ENST00000371158,NM_176877.2;INADL,frameshift_variant,p.Gln59AsnfsTer2,ENST00000316485,;INADL,non_coding_transcript_exon_variant,,ENST00000484562,;INADL,non_coding_transcript_exon_variant,,ENST00000459752,;	uc001dab.2	c.175delC	289/8505	5	5			c.175delC						1	DEL	c.(175-177)CAAfs	33	33			ovary(3)|skin(1)	4	Broad	InaD-like			62228837		0.363	ENSG00000132849	7596	g.chr1:62228837delC	intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding																				0.1	1	1	0	1	0	0	0	0	0	--	--		0	-			INADL_uc009waf.1_Frame_Shift_Del_p.Q59fs|INADL_uc001daa.2_Frame_Shift_Del_p.Q59fs	95	GBM-06-5412-TP	p.Q59fs	C	GTCCATCAAGCAACTGAAGGG	NM_176877	NP_795352	62228837	Q8NI35	INADL_HUMAN	0			3	289	+	-	-			Frame_Shift_Del	59			L27.			
INADL	0	broad.mit.edu	GRCh37	1	62253476	62253476	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-5213-01	TCGA-28-5213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371158.2:c.900C>T	p.Asn300=	p.N300=	ENST00000371158	NM_176877.2	300	aaC/aaT	0			1			T	N	uc001dab.2	protein_coding	YES	CCDS617.2			900/5406									ovary(3)|skin(1)	4	c.(898-900)AAC>AAT			Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR19964,hmmpanther:PTHR19964:SF11,SMART_domains:SM00228,Superfamily_domains:SSF50156	InaD-like				ENSP00000360200		Aug-43	2.47E-05							0.000182	rs756597467,COSM3400939	Aug-43	.		ENST00000371158	Transcript			intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	ENSG00000132849	g.chr1:62253476C>T	28881			LOW								--	--	1																																		INADL_uc009waf.1_Silent_p.N300N|INADL_uc001daa.2_Silent_p.N300N|INADL_uc001dad.3_Translation_Start_Site	0,1	1			p.N300N	NM_176877	NP_795352			0,1	INADL_HUMAN	INADL	HGNC	Q8NI35	INADL_HUMAN					8	1014	+			UPI0000204487	300			PDZ 2.		SNV	INADL,synonymous_variant,p.=,ENST00000371158,NM_176877.2;INADL,synonymous_variant,p.=,ENST00000316485,;INADL,non_coding_transcript_exon_variant,,ENST00000484562,;INADL,non_coding_transcript_exon_variant,,ENST00000459752,;	uc001dab.2	c.900C>T	1014/8505	1	1			c.900C>T						1	SNP	c.(898-900)AAC>AAT	4	4			ovary(3)|skin(1)	4	Broad	InaD-like			62253476		0.438	ENSG00000132849	7596	g.chr1:62253476C>T	intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding							66.603898	KEEP	13	20	-1	53	62	13	20	-1	75.774155	53	62	0.223077	1	0	0	0	0	0	0	1	0	--	--		0	T			INADL_uc009waf.1_Silent_p.N300N|INADL_uc001daa.2_Silent_p.N300N|INADL_uc001dad.3_Translation_Start_Site	220	GBM-28-5213-TP	p.N300N	C	GTGGCACAAACGTGCAGGGAA	NM_176877	NP_795352	62253476	Q8NI35	INADL_HUMAN	0			8	1014	+	T	T			Silent	300			PDZ 2.			
INCENP	0	broad.mit.edu	GRCh37	11	61898063	61898063	+	splice_donor_variant	Splice_Site	SNP	G	G	A			TCGA-12-0618-01	TCGA-12-0618-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394818.3:c.1063+1G>A		p.X355_splice	ENST00000394818	NM_001040694.1			0			1			A		uc001nsw.1	protein_coding	YES	CCDS44624.1			1063/2757									lung(1)	1	c.e4+1				inner centromere protein antigens 135/155kDa				ENSP00000378295											COSM3397981,COSM3397982		.		ENST00000394818	Transcript			chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding	ENSG00000149503	g.chr11:61898063G>A	6058			HIGH	18-Apr							--	--	1																																		INCENP_uc009ynv.2_Splice_Site_p.C355_splice|INCENP_uc009ynw.1_Splice_Site_p.C355_splice|INCENP_uc001nsx.1_Splice_Site_p.C355_splice	1,1	1			p.C355_splice	NM_001040694	NP_001035784			1,1	INCE_HUMAN	INCENP	HGNC	Q9NQS7	INCE_HUMAN			E9PM67_HUMAN		4	1265	+			UPI0000D7D6F3						SNV	INCENP,splice_donor_variant,,ENST00000394818,NM_001040694.1;INCENP,splice_donor_variant,,ENST00000278849,NM_020238.2;INCENP,downstream_gene_variant,,ENST00000533896,;INCENP,splice_donor_variant,,ENST00000528037,;INCENP,splice_donor_variant,,ENST00000528375,;	uc001nsw.1	c.1063_splice	-/3964	5	1			c.1063_splice						11	SNP	c.e4+1	58	58			lung(1)	1	Broad	inner centromere protein antigens 135/155kDa			61898063		0.537	ENSG00000149503	7598	g.chr11:61898063G>A	chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding							86.765432	KEEP	28	35	-1	31	30	28	35	-1	86.852166	31	30	0.460317	1	0	0	0	0	0	0	0	1	--	--		0	A			INCENP_uc009ynv.2_Splice_Site_p.C355_splice|INCENP_uc009ynw.1_Splice_Site_p.C355_splice|INCENP_uc001nsx.1_Splice_Site_p.C355_splice	119	GBM-12-0618-TP	p.C355_splice	G	CGCATCATCTGTGAGTCTGGG	NM_001040694	NP_001035784	61898063	Q9NQS7	INCE_HUMAN	0			4	1265	+	A	A			Splice_Site							
INCENP	3619		GRCh37	11	61895641	61895641	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000394818.3:c.8C>T	p.Thr3Met	p.T3M	ENST00000394818	NM_001040694.1	3	aCg/aTg	0																																																																																																																																																																																																																																												
INF2	64423	broad.mit.edu	GRCh37	14	105174270	105174271	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0237-01	TCGA-06-0237-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392634.4:c.1669dup	p.Val557GlyfsTer23	p.V557Gfs*23	ENST00000392634	NM_022489.3	556	cgg/cGgg	0			1			G	R/RX	uc001ypb.2	protein_coding	YES	CCDS9989.2			1666-1667/3750										0	c.(1666-1668)CGGfs			PROSITE_profiles:PS51444,hmmpanther:PTHR23213:SF5,hmmpanther:PTHR23213,Pfam_domain:PF02181,SMART_domains:SM00498	inverted formin 2 isoform 1				ENSP00000376410		23-Aug	2.49E-05				0.000173	3.35E-05			rs756888109,COSM1723112,COSM1723113	23-Aug	.		ENST00000392634	Transcript	1		actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	ENSG00000203485	g.chr14:105174270_105174271insG	23791	3		HIGH								--	--	1																																		INF2_uc010tyi.1_Frame_Shift_Ins_p.R556fs|INF2_uc001ypc.2_Frame_Shift_Ins_p.R556fs|INF2_uc010awz.1_RNA	0,1,1	1			p.R556fs	NM_022489	NP_071934			0,1,1	INF2_HUMAN	INF2	HGNC	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)			8	1809_1810	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	UPI000156D0FB	556			FH2.		insertion	INF2,frameshift_variant,p.Val557GlyfsTer23,ENST00000392634,NM_022489.3;INF2,frameshift_variant,p.Val557GlyfsTer23,ENST00000330634,NM_001031714.3;INF2,frameshift_variant,p.Val25GlyfsTer23,ENST00000252527,;INF2,downstream_gene_variant,,ENST00000398337,NM_032714.2;INF2,upstream_gene_variant,,ENST00000474229,;INF2,upstream_gene_variant,,ENST00000480763,;INF2,upstream_gene_variant,,ENST00000477497,;	uc001ypb.2	c.1666_1667insG	1778-1779/4672	5	5			c.1666_1667insG						14	INS	c.(1666-1668)CGGfs	61	61				0	Broad	inverted formin 2 isoform 1			105174271		0.663	ENSG00000203485	7599	g.chr14:105174270_105174271insG	actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding																				0.04	1	0	0	1	1	0	0	0	0	--	--		0	G			INF2_uc010tyi.1_Frame_Shift_Ins_p.R556fs|INF2_uc001ypc.2_Frame_Shift_Ins_p.R556fs|INF2_uc010awz.1_RNA	54	GBM-06-0237-TP	p.R556fs	-	CAGCCATCGGCGGGTGAACCCA	NM_022489	NP_071934	105174270	Q27J81	INF2_HUMAN	0	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	8	1809_1810	+	G	G		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	Frame_Shift_Ins	556			FH2.			
ING2	0	broad.mit.edu	GRCh37	4	184431464	184431464	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302327.3:c.202G>A	p.Glu68Lys	p.E68K	ENST00000302327	NM_001564.2	68	Gaa/Aaa	0			1			A	E/K	uc003ivs.1	protein_coding	YES	CCDS3833.1			202/843									ovary(1)	1	c.(202-204)GAA>AAA			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF12998,hmmpanther:PTHR10333,hmmpanther:PTHR10333:SF37,Low_complexity_(Seg):seg	inhibitor of growth family, member 2				ENSP00000307183		2-Feb									COSM261422	2-Feb	.		ENST00000302327	Transcript			chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	chromatin binding|DNA binding|protein complex binding|zinc ion binding	ENSG00000168556	g.chr4:184431464G>A	6063			MODERATE		2.815	medium	getma.org/?cm=msa&ty=f&p=ING2_HUMAN&rb=26&re=125&var=E68K	getma.org/pdb.php?prot=ING2_HUMAN&from=26&to=125&var=E68K	getma.org/?cm=var&var=hg19,4,184431464,G,A&fts=all	E68K	--	--	1																																		ING2_uc011ckk.1_Missense_Mutation_p.E28K	1	1		probably_damaging(0.995)	p.E68K	NM_001564	NP_001555		deleterious(0.03)	1	ING2_HUMAN	ING2	HGNC	Q9H160	ING2_HUMAN		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)			2	331	+		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)	UPI000003BC86	68			Potential.		SNV	ING2,missense_variant,p.Glu68Lys,ENST00000302327,NM_001564.2;ING2,missense_variant,p.Glu28Lys,ENST00000434682,;ING2,missense_variant,p.Glu28Lys,ENST00000412117,;	uc003ivs.1	c.202G>A	404/1189	2	2			c.202G>A						4	SNP	c.(202-204)GAA>AAA	32	32			ovary(1)	1	Broad	inhibitor of growth family, member 2			184431464		0.318	ENSG00000168556	7601	g.chr4:184431464G>A	chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	chromatin binding|DNA binding|protein complex binding|zinc ion binding							157.226326	KEEP	27	31	-1	65	58	27	31	-1	161.905982	65	58	0.321212	1	0	0	0	0	1	0	0	0	--	--		0	A			ING2_uc011ckk.1_Missense_Mutation_p.E28K	240	GBM-32-2632-TP	p.E68K	G	TGATGTCTACGAAAAATATAA	NM_001564	NP_001555	184431464	Q9H160	ING2_HUMAN	0		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	2	331	+	A	A		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)	Missense_Mutation	68			Potential.			
INHBB	3625	broad.mit.edu	GRCh37	2	121107075	121107075	+	synonymous_variant	Silent	SNP	C	C	T	rs61737548	byFrequency;by1000genomes	TCGA-06-6389-01	TCGA-06-6389-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295228.3:c.849C>T	p.Gly283=	p.G283=	ENST00000295228	NM_002193.2	283	ggC/ggT	0	T:0.1092	T:0.1067	1	T:0.0115		T	G	uc002tmn.2	protein_coding	YES	CCDS2132.1			849/1224								p.G283G(1)	pancreas(2)|skin(1)	3	c.(847-849)GGC>GGT			hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF29	inhibin beta B subunit preproprotein		T:0	T:0.0009	ENSP00000295228	T:0.001	2-Feb	0.0102	0.109	0.0058			0.000454	0.00901	0.000243	rs61737548,COSM84624	2-Feb	common_variant		ENST00000295228	Transcript		T:0.0300	activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity	ENSG00000163083	g.chr2:121107075C>T	6067			LOW								--	--	1																																			0,1	1			p.G283G	NM_002193	NP_002184	T:0		0,1	INHBB_HUMAN	INHBB	HGNC	P09529	INHBB_HUMAN					2	895	+		Prostate(154;0.122)	UPI000012D427	283					SNV	INHBB,synonymous_variant,p.=,ENST00000295228,NM_002193.2;	uc002tmn.2	c.849C>T	895/3204	1	1			c.849C>T						2	SNP	c.(847-849)GGC>GGT	7	7		p.G283G(1)	pancreas(2)|skin(1)	3	Broad	inhibin beta B subunit preproprotein			121107075		0.642	ENSG00000163083	7606	g.chr2:121107075C>T	activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity							19.589443	KEEP	14	5	-1	53	61	14	5	-1	33.258214	53	61	0.144144	1	0	0	0	0	0	0	1	0	--	--		0	T				105	GBM-06-6389-TP	p.G283G	C	CTCGGCTGGGCGACAGCAGGC	NM_002193	NP_002184	121107075	P09529	INHBB_HUMAN	0			2	895	+	T	T		Prostate(154;0.122)	Silent	283						
INHBE	83729	broad.mit.edu	GRCh37	12	57849443	57849443	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0686-01	TCGA-06-0686-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266646.2:c.124C>G	p.Leu42Val	p.L42V	ENST00000266646	NM_031479.3	42	Ctg/Gtg	0			1			G	L/V	uc001snw.2	protein_coding	YES	CCDS8939.1			124/1053									breast(2)|central_nervous_system(1)	3	c.(124-126)CTG>GTG			Pfam_domain:PF00688,Prints_domain:PR00672,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF6	activin beta E precursor				ENSP00000266646		2-Jan									COSM2151557	2-Jan	.		ENST00000266646	Transcript			growth	extracellular region	growth factor activity|hormone activity	ENSG00000139269	g.chr12:57849443C>G	24029			MODERATE		1.91	medium	getma.org/?cm=msa&ty=f&p=INHBE_HUMAN&rb=15&re=222&var=L42V	NA	getma.org/?cm=var&var=hg19,12,57849443,C,G&fts=all	L42V	--	--	1																																			1	1		benign(0.096)	p.L42V	NM_031479	NP_113667		tolerated(0.1)	1	INHBE_HUMAN	INHBE	HGNC	P58166	INHBE_HUMAN					1	348	+			UPI000012D42C	42					SNV	INHBE,missense_variant,p.Leu42Val,ENST00000266646,NM_031479.3;INHBE,intron_variant,,ENST00000547970,;GLI1,upstream_gene_variant,,ENST00000228682,NM_005269.2;GLI1,upstream_gene_variant,,ENST00000546141,NM_001167609.1;GLI1,upstream_gene_variant,,ENST00000543426,NM_001160045.1;INHBC,downstream_gene_variant,,ENST00000309668,NM_005538.2;GLI1,upstream_gene_variant,,ENST00000532291,;GLI1,upstream_gene_variant,,ENST00000528432,;INHBE,intron_variant,,ENST00000551553,;INHBE,upstream_gene_variant,,ENST00000553033,;GLI1,upstream_gene_variant,,ENST00000530789,;	uc001snw.2	c.124C>G	340/2429	4	4			c.124C>G						12	SNP	c.(124-126)CTG>GTG	21	21			breast(2)|central_nervous_system(1)	3	Broad	activin beta E precursor			57849443		0.622	ENSG00000139269	7608	g.chr12:57849443C>G	growth	extracellular region	growth factor activity|hormone activity	GBM(191;1808 2166 15720 36624 50371)			GBM(191;1808 2166 15720 36624 50371)			1311.750377	KEEP	207	164	-1	22	18	207	164	-1	1374.057445	22	18	0.9	1	0	0	0	0	1	0	0	0	--	--		0	G				64	GBM-06-0686-TP	p.L42V	C	AGAACGAGCTCTGGTGCTGGA	NM_031479	NP_113667	57849443	P58166	INHBE_HUMAN	0			1	348	+	G	G			Missense_Mutation	42						
INIP	0	broad.mit.edu	GRCh37	9	115451883	115451883	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-27-1837-01	TCGA-27-1837-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374242.4:c.143G>T	p.Arg48Ile	p.R48I	ENST00000374242	NM_021218.1	48	aGa/aTa	0			1			A	R/I	uc004bgg.2	protein_coding	YES	CCDS6785.1			143/315										0	c.(142-144)AGA>ATA			hmmpanther:PTHR31526	SOSSC protein				ENSP00000363360		5-Apr									COSM3413268	5-Apr	.		ENST00000374242	Transcript			DNA repair|response to ionizing radiation	SOSS complex	protein binding	ENSG00000148153	g.chr9:115451883C>A	24994			MODERATE		1.95	medium	getma.org/?cm=msa&ty=f&p=SOSSC_HUMAN&rb=1&re=102&var=R48I	NA	getma.org/?cm=var&var=hg19,9,115451883,C,A&fts=all	R48I	--	--	1																																		C9orf80_uc010muk.2_Intron	1	1		probably_damaging(0.955)	p.R48I	NM_021218	NP_067041		tolerated(0.05)	1	SOSSC_HUMAN	INIP	HGNC	Q9NRY2	SOSSC_HUMAN					4	320	-			UPI000006FF52	48					SNV	INIP,missense_variant,p.Arg48Ile,ENST00000374242,NM_021218.1;INIP,missense_variant,p.Arg18Ile,ENST00000374236,;INIP,intron_variant,,ENST00000374238,;INIP,intron_variant,,ENST00000374234,;INIP,non_coding_transcript_exon_variant,,ENST00000497712,;INIP,intron_variant,,ENST00000481146,;INIP,downstream_gene_variant,,ENST00000476599,;	uc004bgg.2	c.143G>T	449/4233	1	1			c.143G>T						9	SNP	c.(142-144)AGA>ATA	49	49				0	Broad	SOSSC protein			115451883		0.428	ENSG00000148153	2449	g.chr9:115451883C>A	DNA repair|response to ionizing radiation	SOSS complex	protein binding							103.769518	KEEP	25	19	0.431818182	38	36	25	19	0.431818182	104.896407	38	36	0.38835	1	0	0	0	0	1	0	0	0	--	--		0	A			C9orf80_uc010muk.2_Intron	196	GBM-27-1837-TP	p.R48I	C	AAGAGAGGGTCTCGAGAGTGC	NM_021218	NP_067041	115451883	Q9NRY2	SOSSC_HUMAN	0			4	320	-	A	A			Missense_Mutation	48						
INMT	0	broad.mit.edu	GRCh37	7	30795056	30795056	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000013222.5:c.381G>A	p.Lys127=	p.K127=	ENST00000013222	NM_006774.4	127	aaG/aaA	0			1			A	K	uc003tbs.1	protein_coding	YES	CCDS5430.1			381/792										0	c.(379-381)AAG>AAA			Gene3D:3.40.50.150,Pfam_domain:PF01234,PIRSF_domain:PIRSF000384,PROSITE_profiles:PS51681,hmmpanther:PTHR10867,hmmpanther:PTHR10867:SF6,Superfamily_domains:SSF53335	indolethylamine N-methyltransferase				ENSP00000013222		3-Mar									COSM3411977	3-Mar	.		ENST00000013222	Transcript				cytoplasm	amine N-methyltransferase activity	ENSG00000241644	g.chr7:30795056G>A	6069			LOW								--	--	1																																		FAM188B_uc010kwe.2_Intron|INMT_uc010kwc.1_RNA|INMT_uc010kwd.1_Silent_p.K126K	1	1			p.K127K	NM_006774	NP_006765			1	INMT_HUMAN	INMT	HGNC	O95050	INMT_HUMAN			Q3MIB5_HUMAN		3	397	+			UPI000013C526	127					SNV	INMT,synonymous_variant,p.=,ENST00000013222,NM_006774.4,NM_001199219.1;INMT,synonymous_variant,p.=,ENST00000409539,;INMT,non_coding_transcript_exon_variant,,ENST00000484180,;INMT-FAM188B,intron_variant,,ENST00000458257,;INMT-FAM188B,intron_variant,,ENST00000451002,;	uc003tbs.1	c.381G>A	397/2559	2	2			c.381G>A						7	SNP	c.(379-381)AAG>AAA	45	45				0	Broad	indolethylamine N-methyltransferase			30795056		0.637	ENSG00000241644	7609	g.chr7:30795056G>A		cytoplasm	amine N-methyltransferase activity							3.745687	KEEP	0	2	-1	9	10	0	2	-1	6.428787	9	10	0.111111	1	0	0	0	0	0	0	1	0	--	--		0	A			FAM188B_uc010kwe.2_Intron|INMT_uc010kwc.1_RNA|INMT_uc010kwd.1_Silent_p.K126K	235	GBM-32-2491-TP	p.K127K	G	GGGAGGAGAAGGAGGAGAAGC	NM_006774	NP_006765	30795056	O95050	INMT_HUMAN	0			3	397	+	A	A			Silent	127						
INO80C	125476	broad.mit.edu	GRCh37	18	33077703	33077703	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-5856-01	TCGA-06-5856-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000441607.2:c.136T>A	p.Ser46Thr	p.S46T	ENST00000441607	NM_001098817.1	46	Tcc/Acc	0			1			T	S/T	uc002kyy.3	protein_coding		CCDS11914.1			136/579										0	c.(136-138)TCC>ACC			hmmpanther:PTHR31200,hmmpanther:PTHR31200:SF1,Low_complexity_(Seg):seg	Ies6-similar protein isoform 2				ENSP00000334473		5-Jan									COSM3748035,COSM3748034	5-Jan	.		ENST00000334598	Transcript			DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex		ENSG00000153391	g.chr18:33077703A>T	26994			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=IN80C_HUMAN&rb=1&re=140&var=S46T	NA	getma.org/?cm=var&var=hg19,18,33077703,A,T&fts=all	S46T	--	--	1																																		INO80C_uc002kyw.1_Missense_Mutation_p.S46T|INO80C_uc002kyx.3_5'Flank|INO80C_uc010dmt.2_Missense_Mutation_p.S46T	1,1			benign(0.038)	p.S46T	NM_194281	NP_919257		tolerated_low_confidence(0.53)	1,1	IN80C_HUMAN	INO80C	HGNC	Q6PI98	IN80C_HUMAN			K7EIY8_HUMAN,K7EKI6_HUMAN		1	253	-			UPI0000039EC4	46					SNV	INO80C,missense_variant,p.Ser46Thr,ENST00000592173,;INO80C,missense_variant,p.Ser46Thr,ENST00000334598,NM_194281.3;INO80C,missense_variant,p.Ser46Thr,ENST00000441607,NM_001098817.1;INO80C,missense_variant,p.Ser46Thr,ENST00000590757,;RP11-322E11.6,missense_variant,p.Ser46Thr,ENST00000589258,;INO80C,missense_variant,p.Ser46Thr,ENST00000587450,;INO80C,upstream_gene_variant,,ENST00000586489,;INO80C,upstream_gene_variant,,ENST00000589273,;INO80C,missense_variant,p.Ser46Thr,ENST00000586449,;INO80C,non_coding_transcript_exon_variant,,ENST00000283410,;INO80C,non_coding_transcript_exon_variant,,ENST00000585971,;INO80C,non_coding_transcript_exon_variant,,ENST00000589053,;	uc002kyy.3	c.136T>A	253/974	2	2			c.136T>A						18	SNP	c.(136-138)TCC>ACC	32	32				0	Broad	Ies6-similar protein isoform 2			33077703		0.672	ENSG00000153391	7612	g.chr18:33077703A>T	DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex								1.102472	KEEP	3	0	-1	15	16	3	0	-1	6.667922	15	16	0.090909	1	0	0	0	0	1	0	0	0	--	--		0	T			INO80C_uc002kyw.1_Missense_Mutation_p.S46T|INO80C_uc002kyx.3_5'Flank|INO80C_uc010dmt.2_Missense_Mutation_p.S46T	101	GBM-06-5856-TP	p.S46T	A	CTGGAAGCGGACGCTTTTTTC	NM_194281	NP_919257	33077703	Q6PI98	IN80C_HUMAN	0			1	253	-	T	T			Missense_Mutation	46						
INO80C	0	broad.mit.edu	GRCh37	18	33060423	33060423	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2619-01	TCGA-19-2619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334598.7:c.261C>T	p.Asn87=	p.N87=	ENST00000334598	NM_194281.3	87	aaC/aaT	0			1			A	N	uc002kyy.3	protein_coding		CCDS11914.1			261/579										0	c.(259-261)AAC>AAT			hmmpanther:PTHR31200,hmmpanther:PTHR31200:SF1	Ies6-similar protein isoform 2				ENSP00000334473		5-Feb									COSM2156154	5-Feb	.		ENST00000334598	Transcript			DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex		ENSG00000153391	g.chr18:33060423G>A	26994			LOW								--	--	1																																		INO80C_uc002kyw.1_Silent_p.N87N|INO80C_uc002kyx.3_Silent_p.N32N|INO80C_uc010dmt.2_Silent_p.N123N	1				p.N87N	NM_194281	NP_919257			1	IN80C_HUMAN	INO80C	HGNC	Q6PI98	IN80C_HUMAN			K7EIY8_HUMAN,K7EKI6_HUMAN		2	378	-			UPI0000039EC4	87					SNV	INO80C,synonymous_variant,p.=,ENST00000592173,;INO80C,synonymous_variant,p.=,ENST00000334598,NM_194281.3;INO80C,synonymous_variant,p.=,ENST00000441607,NM_001098817.1;INO80C,synonymous_variant,p.=,ENST00000586489,;INO80C,synonymous_variant,p.=,ENST00000591139,;INO80C,intron_variant,,ENST00000590757,;RP11-322E11.6,intron_variant,,ENST00000589258,;INO80C,intron_variant,,ENST00000587450,;INO80C,downstream_gene_variant,,ENST00000589273,;INO80C,3_prime_UTR_variant,,ENST00000586449,;INO80C,non_coding_transcript_exon_variant,,ENST00000283410,;	uc002kyy.3	c.261C>T	378/974	2	2			c.261C>T						18	SNP	c.(259-261)AAC>AAT	21	21				0	Broad	Ies6-similar protein isoform 2			33060423		0.483	ENSG00000153391	7612	g.chr18:33060423G>A	DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex								54.200864	KEEP	9	17	-1	54	45	9	17	-1	63.805969	54	45	0.196429	1	0	0	0	0	0	0	1	0	--	--		0	A			INO80C_uc002kyw.1_Silent_p.N87N|INO80C_uc002kyx.3_Silent_p.N32N|INO80C_uc010dmt.2_Silent_p.N123N	161	GBM-19-2619-TP	p.N87N	G	TTACCACAAAGTTGGGATCCT	NM_194281	NP_919257	33060423	Q6PI98	IN80C_HUMAN	0			2	378	-	A	A			Silent	87						
INPP1	0	broad.mit.edu	GRCh37	2	191236128	191236128	+	stop_lost	Nonstop_Mutation	SNP	G	G	C			TCGA-12-3652-01	TCGA-12-3652-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322522.4:c.1200G>C	p.Ter400TyrextTer10	p.*400Yext*10	ENST00000322522	NM_002194.3	400	taG/taC	0			1			C	*/Y	uc002ury.3	protein_coding		CCDS2305.1			1200/1200									ovary(1)|lung(1)	2	c.(1198-1200)TAG>TAC				inositol polyphosphate-1-phosphatase	Lithium(DB01356)			ENSP00000325423		6-Jun									COSM3407417	6-Jun	.		ENST00000322522	Transcript			signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding	ENSG00000151689	g.chr2:191236128G>C	6071			HIGH								--	--	1																																		INPP1_uc010fsb.2_Nonstop_Mutation_p.*400Y|INPP1_uc002urx.3_Nonstop_Mutation_p.*400Y	1				p.*400Y	NM_001128928	NP_001122400			1	INPP_HUMAN	INPP1	HGNC	P49441	INPP_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		Q6IBG4_HUMAN,E7EUX4_HUMAN,E7ET59_HUMAN,E7ENF2_HUMAN,C9J2Z6_HUMAN,C9J2N5_HUMAN,C9J173_HUMAN,C9J128_HUMAN,B8ZZF6_HUMAN		7	1900	+			UPI000012D697	400					SNV	INPP1,stop_lost,p.Ter400TyrextTer10,ENST00000392329,NM_001128928.1;INPP1,stop_lost,p.Ter400TyrextTer10,ENST00000541441,;INPP1,stop_lost,p.Ter400TyrextTer10,ENST00000322522,NM_002194.3;INPP1,downstream_gene_variant,,ENST00000423767,;INPP1,downstream_gene_variant,,ENST00000431594,;INPP1,downstream_gene_variant,,ENST00000444194,;INPP1,downstream_gene_variant,,ENST00000409027,;INPP1,downstream_gene_variant,,ENST00000458647,;INPP1,downstream_gene_variant,,ENST00000417336,;INPP1,downstream_gene_variant,,ENST00000470892,;	uc002ury.3	c.1200G>C	1656/1919	5	3			c.1200G>C						2	SNP	c.(1198-1200)TAG>TAC	12	12			ovary(1)|lung(1)	2	Broad	inositol polyphosphate-1-phosphatase		Lithium(DB01356)	191236128		0.493	ENSG00000151689	7615	g.chr2:191236128G>C	signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding	Melanoma(130;184 1743 2185 19805 38428)			Melanoma(130;184 1743 2185 19805 38428)			107.772665	KEEP	15	15	-1	18	16	15	15	-1	107.804728	18	16	0.47541	1	0	0	0	0	0	0	0	0	--	--		0	C			INPP1_uc010fsb.2_Nonstop_Mutation_p.*400Y|INPP1_uc002urx.3_Nonstop_Mutation_p.*400Y	127	GBM-12-3652-TP	p.*400Y	G	CGCATACCTAGAGGAACTCTA	NM_001128928	NP_001122400	191236128	P49441	INPP_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		7	1900	+	C	C			Nonstop_Mutation	400						
INPP4B	0	broad.mit.edu	GRCh37	4	143159105	143159105	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5951-01	TCGA-19-5951-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262992.4:c.748C>T	p.Arg250Ter	p.R250*	ENST00000262992	NM_001101669.1	250	Cga/Tga	0			1			A	R/*	uc003iix.3	protein_coding		CCDS3757.1			748/2775									ovary(1)|lung(1)	2	c.(748-750)CGA>TGA			hmmpanther:PTHR12187:SF3,hmmpanther:PTHR12187	inositol polyphosphate-4-phosphatase, type II,				ENSP00000262992		24-Oct	1.65E-05	9.91E-05				1.53E-05			rs763155133,COSM1051543	24-Oct	.		ENST00000262992	Transcript			signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	ENSG00000109452	g.chr4:143159105G>A	6075			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,4,143159105,G,A&fts=all	R250*	--	--	1																																		INPP4B_uc003iiw.3_Nonsense_Mutation_p.R250*|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Nonsense_Mutation_p.R65*|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Nonsense_Mutation_p.R121*	0,1				p.R250*	NM_003866	NP_003857			0,1	INP4B_HUMAN	INPP4B	HGNC	O15327	INP4B_HUMAN			E9PCZ3_HUMAN,D6RJC3_HUMAN,D6RE59_HUMAN,D6R9J5_HUMAN		13	1343	-	all_hematologic(180;0.158)		UPI000013D37A	250					SNV	INPP4B,stop_gained,p.Arg250Ter,ENST00000513000,NM_003866.2;INPP4B,stop_gained,p.Arg250Ter,ENST00000509777,;INPP4B,stop_gained,p.Arg250Ter,ENST00000262992,NM_001101669.1;INPP4B,stop_gained,p.Arg250Ter,ENST00000508116,;INPP4B,stop_gained,p.Arg250Ter,ENST00000308502,;INPP4B,stop_gained,p.Arg250Ter,ENST00000510812,;INPP4B,stop_gained,p.Arg65Ter,ENST00000511838,;INPP4B,stop_gained,p.Arg121Ter,ENST00000514525,;INPP4B,stop_gained,p.Arg250Ter,ENST00000512630,;INPP4B,3_prime_UTR_variant,,ENST00000506297,;	uc003iix.3	c.748C>T	965/3741	5	2			c.748C>T						4	SNP	c.(748-750)CGA>TGA	45	45			ovary(1)|lung(1)	2	Broad	inositol polyphosphate-4-phosphatase, type II,			143159105		0.318	ENSG00000109452	7617	g.chr4:143159105G>A	signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity		p.R250*(LS411N-Tumor)	564		p.R250*(LS411N-Tumor)	564	47.772678	KEEP	11	7	-1	12	12	11	7	-1	47.872364	12	12	0.444444	1	0	0	0	0	0	1	0	0	--	--		0	A			INPP4B_uc003iiw.3_Nonsense_Mutation_p.R250*|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Nonsense_Mutation_p.R65*|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Nonsense_Mutation_p.R121*	171	GBM-19-5951-TP	p.R250*	G	TCTCGAATTCGCATCCACTTA	NM_003866	NP_003857	143159105	O15327	INP4B_HUMAN	0			13	1343	-	A	A	all_hematologic(180;0.158)		Nonsense_Mutation	250						
INPP5A	0	broad.mit.edu	GRCh37	10	134523875	134523875	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-41-4097-01	TCGA-41-4097-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368594.3:c.562G>C	p.Asp188His	p.D188H	ENST00000368594	NM_005539.3	188	Gat/Cat	0			1			C	D/H	uc001llp.2	protein_coding	YES	CCDS7669.2			562/1239									skin(1)	1	c.(562-564)GAT>CAT			Superfamily_domains:SSF56219,SMART_domains:SM00128,Pfam_domain:PF03372,Gene3D:3.60.10.10,hmmpanther:PTHR12997,hmmpanther:PTHR12997:SF7	inositol polyphosphate-5-phosphatase A				ENSP00000357583		16-Aug									COSM3396999,COSM3396998	16-Aug	.		ENST00000368594	Transcript			cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	ENSG00000068383	g.chr10:134523875G>C	6076			MODERATE		1.775	low	getma.org/?cm=msa&ty=f&p=I5P1_HUMAN&rb=15&re=385&var=D188H	getma.org/pdb.php?prot=I5P1_HUMAN&from=15&to=385&var=D188H	getma.org/?cm=var&var=hg19,10,134523875,G,C&fts=all	D188H	--	--	1																																		INPP5A_uc001llo.1_Missense_Mutation_p.D188H|INPP5A_uc001llq.2_Missense_Mutation_p.D140H	1,1	1		possibly_damaging(0.685)	p.D188H	NM_005539	NP_005530		deleterious(0)	1,1	I5P1_HUMAN	INPP5A	HGNC	Q14642	I5P1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	Q4VAR4_HUMAN,Q149S6_HUMAN		8	810	+		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)	UPI000012D085	188					SNV	INPP5A,missense_variant,p.Asp188His,ENST00000368594,NM_005539.3;INPP5A,missense_variant,p.Asp188His,ENST00000368593,;INPP5A,missense_variant,p.Asp160His,ENST00000342652,;INPP5A,missense_variant,p.Asp111His,ENST00000423490,;INPP5A,non_coding_transcript_exon_variant,,ENST00000487614,;INPP5A,non_coding_transcript_exon_variant,,ENST00000498337,;	uc001llp.2	c.562G>C	839/2962	3	3			c.562G>C						10	SNP	c.(562-564)GAT>CAT	62	62			skin(1)	1	Broad	inositol polyphosphate-5-phosphatase A			134523875		0.488	ENSG00000068383	7618	g.chr10:134523875G>C	cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	Pancreas(63;823 1267 11107 20380 51626)			Pancreas(63;823 1267 11107 20380 51626)			3.933965	KEEP	2	0	-1	15	5	2	0	-1	7.130743	15	5	0.1	1	0	0	0	0	1	0	0	0	--	--		0	C			INPP5A_uc001llo.1_Missense_Mutation_p.D188H|INPP5A_uc001llq.2_Missense_Mutation_p.D140H	257	GBM-41-4097-TP	p.D188H	G	TCTTTTCCATGATGCTTCCAA	NM_005539	NP_005530	134523875	Q14642	I5P1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	8	810	+	C	C		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)	Missense_Mutation	188						
INPP5B	0	broad.mit.edu	GRCh37	1	38345863	38345863	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-1991-01	TCGA-32-1991-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373023.2:c.1675A>G	p.Lys559Glu	p.K559E	ENST00000373023	NM_005540.2	559	Aaa/Gaa	0			1			C	K/E	uc001ccg.1	protein_coding					1675/2982									urinary_tract(1)	1	c.(1435-1437)AAA>GAA			hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF30,Gene3D:3.60.10.10,Pfam_domain:PF03372,SMART_domains:SM00128,Superfamily_domains:SSF56219	inositol polyphosphate-5-phosphatase, 75kDa				ENSP00000362114		15/24									COSM3400746	15/24	.		ENST00000373023	Transcript			regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	ENSG00000204084	g.chr1:38345863T>C	6077			MODERATE		2.195	medium	getma.org/?cm=msa&ty=f&p=I5P2_HUMAN&rb=350&re=629&var=K559E	getma.org/pdb.php?prot=I5P2_HUMAN&from=350&to=629&var=K559E	getma.org/?cm=var&var=hg19,1,38345863,T,C&fts=all	K559E	--	--	1																																		INPP5B_uc009vvk.1_Missense_Mutation_p.K420E|INPP5B_uc001ccf.1_Missense_Mutation_p.K315E|INPP5B_uc010oij.1_RNA	1			benign(0.313)	p.K479E	NM_005540	NP_005531		deleterious(0.04)	1	I5P2_HUMAN	INPP5B	HGNC	P32019	I5P2_HUMAN					15	1529	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	UPI0000458AD6	559					SNV	INPP5B,missense_variant,p.Lys559Glu,ENST00000373023,NM_005540.2;INPP5B,missense_variant,p.Lys315Glu,ENST00000373027,;INPP5B,missense_variant,p.Lys559Glu,ENST00000373026,;INPP5B,missense_variant,p.Lys479Glu,ENST00000373024,;INPP5B,3_prime_UTR_variant,,ENST00000458109,;RNU6-584P,upstream_gene_variant,,ENST00000410350,;SNORA63,upstream_gene_variant,,ENST00000516639,;	uc001ccg.1	c.1435A>G	1769/4694	4	4			c.1435A>G						1	SNP	c.(1435-1437)AAA>GAA	48	48			urinary_tract(1)	1	Broad	inositol polyphosphate-5-phosphatase, 75kDa			38345863		0.398	ENSG00000204084	7619	g.chr1:38345863T>C	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding							255.843638	KEEP	44	37	-1	63	71	44	37	-1	258.039913	63	71	0.386598	1	0	0	0	0	1	0	0	0	--	--		0	C			INPP5B_uc009vvk.1_Missense_Mutation_p.K420E|INPP5B_uc001ccf.1_Missense_Mutation_p.K315E|INPP5B_uc010oij.1_RNA	234	GBM-32-1991-TP	p.K479E	T	ACCTGAATTTTCAGCTATACA	NM_005540	NP_005531	38345863	P32019	I5P2_HUMAN	0			15	1529	-	C	C	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	Missense_Mutation	559						
INPP5D	3635	broad.mit.edu	GRCh37	2	233944058	233944058	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0216-01	TCGA-06-0216-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359570.5:c.148G>A	p.Val50Ile	p.V50I	ENST00000359570		50	Gtt/Att	0			1			A	V/I	uc010zmo.1	protein_coding	YES				148/3534									ovary(1)|central_nervous_system(1)	2	c.(148-150)GTT>ATT			PROSITE_profiles:PS50001,hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF69,Gene3D:3.30.505.10,Pfam_domain:PF00017,SMART_domains:SM00252,Superfamily_domains:SSF55550	SH2 containing inositol phosphatase isoform a				ENSP00000352575		29-Feb	8.28E-06					1.51E-05			rs748315737,COSM1210720	29-Feb	.		ENST00000359570	Transcript			apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	ENSG00000168918	g.chr2:233944058G>A	6079			MODERATE								--	--	1																																		INPP5D_uc010zmp.1_Missense_Mutation_p.V50I	0,1	1		probably_damaging(0.989)	p.V50I	NM_001017915	NP_001017915		deleterious(0)	0,1	SHIP1_HUMAN	INPP5D	HGNC	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	H0Y5Q9_HUMAN,C9JF09_HUMAN		2	301	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	UPI0002065B89	50			SH2.		SNV	INPP5D,missense_variant,p.Val50Ile,ENST00000359570,;INPP5D,missense_variant,p.Val50Ile,ENST00000538935,;INPP5D,missense_variant,p.Val50Ile,ENST00000422935,;INPP5D,missense_variant,p.Val50Ile,ENST00000451407,;INPP5D,non_coding_transcript_exon_variant,,ENST00000467393,;	uc010zmo.1	c.148G>A	148/4728	1	1			c.148G>A						2	SNP	c.(148-150)GTT>ATT	53	53			ovary(1)|central_nervous_system(1)	2	Broad	SH2 containing inositol phosphatase isoform a			233944058		0.403	ENSG00000168918	7620	g.chr2:233944058G>A	apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	NSCLC(82;1215 1426 16163 20348 41018)		816	NSCLC(82;1215 1426 16163 20348 41018)		816	106.653039	KEEP	18	17	-1	26	9	18	17	-1	106.707432	26	9	0.53125	1	0	0	0	0	1	0	0	0	--	--		0	A			INPP5D_uc010zmp.1_Missense_Mutation_p.V50I	51	GBM-06-0216-TP	p.V50I	G	TCGGAATTGCGTTTACACTTA	NM_001017915	NP_001017915	233944058	Q92835	SHIP1_HUMAN	0		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	2	301	+	A	A		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	Missense_Mutation	50			SH2.			
INPP5D	0	broad.mit.edu	GRCh37	2	234106832	234106832	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01	TCGA-19-2625-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000445964.1:c.1648G>A	p.Val550Met	p.V550M	ENST00000445964		550	Gtg/Atg	0			1			A	V/M	uc010zmo.1	protein_coding					1648/2433									ovary(1)|central_nervous_system(1)	2	c.(2785-2787)GTG>ATG			hmmpanther:PTHR11200:SF69,hmmpanther:PTHR11200	SH2 containing inositol phosphatase isoform a				ENSP00000405338		15/17	8.27E-06					1.54E-05			rs760843259,COSM3407677	15/17	.		ENST00000445964	Transcript			apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	ENSG00000168918	g.chr2:234106832G>A	6079			MODERATE								--	--	1																																		INPP5D_uc010zmp.1_Missense_Mutation_p.V928M	0,1			benign(0.007)	p.V929M	NM_001017915	NP_001017915		tolerated(0.22)	0,1		INPP5D	HGNC	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	H0Y5Q9_HUMAN		24	2938	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	UPI000013E977	929			Pro-rich.		SNV	INPP5D,missense_variant,p.Val917Met,ENST00000359570,;INPP5D,missense_variant,p.Val681Met,ENST00000455936,NM_005541.3_dupl7,NM_001017915.1_dupl7;INPP5D,missense_variant,p.Val681Met,ENST00000450745,;INPP5D,missense_variant,p.Val550Met,ENST00000445964,;INPP5D,missense_variant,p.Val550Met,ENST00000415617,;INPP5D,missense_variant,p.Val550Met,ENST00000435188,;INPP5D,missense_variant,p.Val51Met,ENST00000417661,;	uc010zmo.1	c.2785G>A	1648/3628	1	1			c.2785G>A						2	SNP	c.(2785-2787)GTG>ATG	55	55			ovary(1)|central_nervous_system(1)	2	Broad	SH2 containing inositol phosphatase isoform a			234106832		0.647	ENSG00000168918	7620	g.chr2:234106832G>A	apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	NSCLC(82;1215 1426 16163 20348 41018)		816	NSCLC(82;1215 1426 16163 20348 41018)		816	-0.137516	KEEP	3	1	-1	25	22	3	1	-1	8.334307	25	22	0.083333	1	0	0	0	0	1	0	0	0	--	--		0	A			INPP5D_uc010zmp.1_Missense_Mutation_p.V928M	165	GBM-19-2625-TP	p.V929M	G	GCCCCTGCACGTGAAGCAGAC	NM_001017915	NP_001017915	234106832	Q92835	SHIP1_HUMAN	0		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	24	2938	+	A	A		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	Missense_Mutation	929			Pro-rich.			
INPP5D	0	broad.mit.edu	GRCh37	2	234112804	234112804	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs142742228	by1000genomes	TCGA-28-5215-01	TCGA-28-5215-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000445964.1:c.1871C>T	p.Thr624Met	p.T624M	ENST00000445964		624	aCg/aTg	0			1			T	T/M	uc010zmo.1	protein_coding					1871/2433									ovary(1)|central_nervous_system(1)	2	c.(3007-3009)ACG>ATG			hmmpanther:PTHR11200:SF69,hmmpanther:PTHR11200	SH2 containing inositol phosphatase isoform a				ENSP00000405338		16/17	8.31E-06								rs142742228,COSM3407678	16/17	.		ENST00000445964	Transcript			apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	ENSG00000168918	g.chr2:234112804C>T	6079			MODERATE								--	--	1																																		INPP5D_uc010zmp.1_Missense_Mutation_p.T1002M	0,1			benign(0.302)	p.T1003M	NM_001017915	NP_001017915		deleterious(0.02)	0,1		INPP5D	HGNC	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	H0Y5Q9_HUMAN		25	3161	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	UPI000013E977	1003			Pro-rich.		SNV	INPP5D,missense_variant,p.Thr991Met,ENST00000359570,;INPP5D,missense_variant,p.Thr755Met,ENST00000455936,NM_005541.3_dupl7,NM_001017915.1_dupl7;INPP5D,missense_variant,p.Thr755Met,ENST00000450745,;INPP5D,missense_variant,p.Thr624Met,ENST00000445964,;INPP5D,missense_variant,p.Thr624Met,ENST00000415617,;INPP5D,missense_variant,p.Thr624Met,ENST00000435188,;INPP5D,intron_variant,,ENST00000417661,;RN7SL32P,upstream_gene_variant,,ENST00000580514,;INPP5D,upstream_gene_variant,,ENST00000491070,;	uc010zmo.1	c.3008C>T	1871/3628	1	1			c.3008C>T						2	SNP	c.(3007-3009)ACG>ATG	1	1			ovary(1)|central_nervous_system(1)	2	Broad	SH2 containing inositol phosphatase isoform a			234112804		0.517	ENSG00000168918	7620	g.chr2:234112804C>T	apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	NSCLC(82;1215 1426 16163 20348 41018)		816	NSCLC(82;1215 1426 16163 20348 41018)		816	11.568224	KEEP	2	3	-1	5	6	2	3	-1	11.938122	5	6	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	T			INPP5D_uc010zmp.1_Missense_Mutation_p.T1002M	222	GBM-28-5215-TP	p.T1003M	C	GCAGGGGACACGCTGCCTCAG	NM_001017915	NP_001017915	234112804	Q92835	SHIP1_HUMAN	0		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	25	3161	+	T	T		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	Missense_Mutation	1003			Pro-rich.			
INPP5E	0	broad.mit.edu	GRCh37	9	139327520	139327520	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-14-0787-01	TCGA-14-0787-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371712.3:c.1167G>C	p.Glu389Asp	p.E389D	ENST00000371712	NM_019892.4	389	gaG/gaC	0			1			G	E/D	uc004cho.2	protein_coding	YES	CCDS7000.1			1167/1935									skin(1)	1	c.(1165-1167)GAG>GAC			Gene3D:3.60.10.10,Pfam_domain:PF03372,hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF114,SMART_domains:SM00128,Superfamily_domains:SSF56219	inositol polyphosphate-5-phosphatase E				ENSP00000360777		10-May									COSM3413463	10-May	.		ENST00000371712	Transcript	1			cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	ENSG00000148384	g.chr9:139327520C>G	21474			MODERATE		2.01	medium	getma.org/?cm=msa&ty=f&p=INP5E_HUMAN&rb=304&re=584&var=E389D	getma.org/pdb.php?prot=INP5E_HUMAN&from=304&to=584&var=E389D	getma.org/?cm=var&var=hg19,9,139327520,C,G&fts=all	E389D	--	--	1																																		INPP5E_uc010nbm.2_Missense_Mutation_p.E389D	1	1		benign(0.136)	p.E389D	NM_019892	NP_063945		deleterious(0)	1	INP5E_HUMAN	INPP5E	HGNC	Q9NRR6	INP5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)	Q2YD81_HUMAN		5	1552	-		Myeloproliferative disorder(178;0.0511)	UPI000014053C	389					SNV	INPP5E,missense_variant,p.Glu389Asp,ENST00000371712,NM_019892.4;	uc004cho.2	c.1167G>C	1570/3394	3	3			c.1167G>C						9	SNP	c.(1165-1167)GAG>GAC	63	63			skin(1)	1	Broad	inositol polyphosphate-5-phosphatase E			139327520		0.627	ENSG00000148384	7621	g.chr9:139327520C>G		cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity							20.263518	KEEP	5	9	-1	48	38	5	9	-1	31.868881	48	38	0.127907	1	0	0	0	0	1	0	0	0	--	--		0	G			INPP5E_uc010nbm.2_Missense_Mutation_p.E389D	135	GBM-14-0787-TP	p.E389D	C	CCGTGGAGCACTCCACCTCTG	NM_019892	NP_063945	139327520	Q9NRR6	INP5E_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)	5	1552	-	G	G		Myeloproliferative disorder(178;0.0511)	Missense_Mutation	389						
INPP5J	27124	broad.mit.edu	GRCh37	22	31523358	31523358	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01	TCGA-06-2565-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000404390.3:c.523G>A	p.Val175Met	p.V175M	ENST00000404390	NM_001002837.1	175	Gtg/Atg	0		A:0.0008	1	A:0		A	V/M	uc003aju.3	protein_coding		CCDS63453.1			1627/3021									skin(1)	1	c.(1627-1629)GTG>ATG			hmmpanther:PTHR11200:SF127,hmmpanther:PTHR11200,Pfam_domain:PF03372,Gene3D:3.60.10.10,SMART_domains:SM00128,Superfamily_domains:SSF56219	phosphatidylinositol (4,5) bisphosphate		A:0		ENSP00000333262	A:0	13-Jun	1.65E-05	0.00013		0.00013					rs529365616,COSM3405608,COSM3405607	13-Jun	.		ENST00000331075	Transcript		A:0.0002		cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding	ENSG00000185133	g.chr22:31523358G>A	8956			MODERATE		4.025	high	getma.org/?cm=msa&ty=f&p=PI5PA_HUMAN&rb=428&re=721&var=V543M	getma.org/pdb.php?prot=PI5PA_HUMAN&from=428&to=721&var=V543M	getma.org/?cm=var&var=hg19,22,31523358,G,A&fts=all	V543M	--	--	1																																		INPP5J_uc003ajv.3_Missense_Mutation_p.V176M|INPP5J_uc003ajs.3_Missense_Mutation_p.V176M|INPP5J_uc011alk.1_Missense_Mutation_p.V476M|INPP5J_uc010gwg.2_Missense_Mutation_p.V108M|INPP5J_uc003ajw.2_Translation_Start_Site|INPP5J_uc003ajt.3_Missense_Mutation_p.V175M|INPP5J_uc003ajx.2_5'Flank|INPP5J_uc003ajy.2_5'Flank|INPP5J_uc003ajz.2_5'Flank	0,1,1			probably_damaging(0.999)	p.V543M	NM_001002837	NP_001002837	A:0	deleterious(0)	0,1,1	PI5PA_HUMAN	INPP5J	HGNC	Q15735	PI5PA_HUMAN			C9K0M5_HUMAN,C9J0H5_HUMAN,B5MBZ3_HUMAN,B4DF95_HUMAN		6	1719	+			UPI000004CB11	543			Catalytic (Potential).		SNV	INPP5J,missense_variant,p.Val543Met,ENST00000331075,NM_001284285.1;INPP5J,missense_variant,p.Val476Met,ENST00000412277,NM_001284286.1;INPP5J,missense_variant,p.Val176Met,ENST00000405300,NM_001284289.1;INPP5J,missense_variant,p.Val176Met,ENST00000400294,NM_001284288.1;INPP5J,missense_variant,p.Val175Met,ENST00000404390,NM_001002837.1;INPP5J,upstream_gene_variant,,ENST00000401755,;INPP5J,upstream_gene_variant,,ENST00000404453,;INPP5J,upstream_gene_variant,,ENST00000402238,;INPP5J,downstream_gene_variant,,ENST00000412985,;INPP5J,downstream_gene_variant,,ENST00000420017,;INPP5J,downstream_gene_variant,,ENST00000463528,;INPP5J,non_coding_transcript_exon_variant,,ENST00000461241,;	uc003aju.3	c.1627G>A	1676/3347	1	1			c.1627G>A						22	SNP	c.(1627-1629)GTG>ATG	52	52			skin(1)	1	Broad	phosphatidylinositol (4,5) bisphosphate			31523358		0.632	ENSG00000185133	7623	g.chr22:31523358G>A		cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding							30.551008	KEEP	3	7	-1	3	11	3	7	-1	30.635251	3	11	0.434783	1	0	0	0	0	1	0	0	0	--	--		0	A			INPP5J_uc003ajv.3_Missense_Mutation_p.V176M|INPP5J_uc003ajs.3_Missense_Mutation_p.V176M|INPP5J_uc011alk.1_Missense_Mutation_p.V476M|INPP5J_uc010gwg.2_Missense_Mutation_p.V108M|INPP5J_uc003ajw.2_Translation_Start_Site|INPP5J_uc003ajt.3_Missense_Mutation_p.V175M|INPP5J_uc003ajx.2_5'Flank|INPP5J_uc003ajy.2_5'Flank|INPP5J_uc003ajz.2_5'Flank	88	GBM-06-2565-TP	p.V543M	G	CAAGGGTGGCGTGAGCGTGCG	NM_001002837	NP_001002837	31523358	Q15735	PI5PA_HUMAN	0			6	1719	+	A	A			Missense_Mutation	543			Catalytic (Potential).			
INPP5J	0	broad.mit.edu	GRCh37	22	31523945	31523945	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-15-0742-01	TCGA-15-0742-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331075.5:c.1796T>A	p.Phe599Tyr	p.F599Y	ENST00000331075	NM_001284285.1	599	tTc/tAc	0			1			A	F/Y	uc003aju.3	protein_coding		CCDS63453.1			1796/3021									skin(1)	1	c.(1795-1797)TTC>TAC			hmmpanther:PTHR11200:SF127,hmmpanther:PTHR11200,Pfam_domain:PF03372,Gene3D:3.60.10.10,SMART_domains:SM00128,Superfamily_domains:SSF56219	phosphatidylinositol (4,5) bisphosphate				ENSP00000333262		13-Jul									COSM3405610,COSM3405609	13-Jul	.		ENST00000331075	Transcript				cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding	ENSG00000185133	g.chr22:31523945T>A	8956			MODERATE		3.055	medium	getma.org/?cm=msa&ty=f&p=PI5PA_HUMAN&rb=428&re=721&var=F599Y	getma.org/pdb.php?prot=PI5PA_HUMAN&from=428&to=721&var=F599Y	getma.org/?cm=var&var=hg19,22,31523945,T,A&fts=all	F599Y	--	--	1																																		INPP5J_uc003ajv.3_Missense_Mutation_p.F232Y|INPP5J_uc003ajs.3_Missense_Mutation_p.F232Y|INPP5J_uc011alk.1_Missense_Mutation_p.F532Y|INPP5J_uc010gwg.2_Missense_Mutation_p.F164Y|INPP5J_uc003ajw.2_Missense_Mutation_p.F35Y|INPP5J_uc003ajt.3_Missense_Mutation_p.F231Y|INPP5J_uc003ajx.2_5'UTR|INPP5J_uc003ajy.2_5'UTR|INPP5J_uc003ajz.2_5'UTR	1,1			probably_damaging(0.991)	p.F599Y	NM_001002837	NP_001002837		deleterious(0.02)	1,1	PI5PA_HUMAN	INPP5J	HGNC	Q15735	PI5PA_HUMAN			C9K0M5_HUMAN,C9J0H5_HUMAN,B5MBZ3_HUMAN,B4DF95_HUMAN		7	1888	+			UPI000004CB11	599			Catalytic (Potential).		SNV	INPP5J,missense_variant,p.Phe599Tyr,ENST00000331075,NM_001284285.1;INPP5J,missense_variant,p.Phe532Tyr,ENST00000412277,NM_001284286.1;INPP5J,missense_variant,p.Phe232Tyr,ENST00000405300,NM_001284289.1;INPP5J,missense_variant,p.Phe232Tyr,ENST00000400294,NM_001284288.1;INPP5J,missense_variant,p.Phe231Tyr,ENST00000404390,NM_001002837.1;INPP5J,5_prime_UTR_variant,,ENST00000401755,;INPP5J,5_prime_UTR_variant,,ENST00000404453,;INPP5J,5_prime_UTR_variant,,ENST00000402238,;INPP5J,downstream_gene_variant,,ENST00000412985,;INPP5J,downstream_gene_variant,,ENST00000420017,;INPP5J,downstream_gene_variant,,ENST00000463528,;INPP5J,non_coding_transcript_exon_variant,,ENST00000461241,;	uc003aju.3	c.1796T>A	1845/3347	2	2			c.1796T>A						22	SNP	c.(1795-1797)TTC>TAC	25	25			skin(1)	1	Broad	phosphatidylinositol (4,5) bisphosphate			31523945		0.577	ENSG00000185133	7623	g.chr22:31523945T>A		cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding							59.004186	KEEP	6	16	-1	3	0	6	16	-1	62.38413	3	0	0.904762	1	0	0	0	0	1	0	0	0	--	--		0	A			INPP5J_uc003ajv.3_Missense_Mutation_p.F232Y|INPP5J_uc003ajs.3_Missense_Mutation_p.F232Y|INPP5J_uc011alk.1_Missense_Mutation_p.F532Y|INPP5J_uc010gwg.2_Missense_Mutation_p.F164Y|INPP5J_uc003ajw.2_Missense_Mutation_p.F35Y|INPP5J_uc003ajt.3_Missense_Mutation_p.F231Y|INPP5J_uc003ajx.2_5'UTR|INPP5J_uc003ajy.2_5'UTR|INPP5J_uc003ajz.2_5'UTR	153	GBM-15-0742-TP	p.F599Y	T	AGCCTCGTGTTCTGGTTCGGG	NM_001002837	NP_001002837	31523945	Q15735	PI5PA_HUMAN	0			7	1888	+	A	A			Missense_Mutation	599			Catalytic (Potential).			
INPP5K	51763	broad.mit.edu	GRCh37	17	1417264	1417264	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0171-01	TCGA-06-0171-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000421807.2:c.54C>T	p.Val18=	p.V18=	ENST00000421807	NM_016532.3	18	gtC/gtT	0			1			A	V	uc002fsr.2	protein_coding	YES	CCDS11004.1			54/1347										0	c.(52-54)GTC>GTT			hmmpanther:PTHR11200:SF117,hmmpanther:PTHR11200,Gene3D:3.60.10.10,SMART_domains:SM00128,Superfamily_domains:SSF56219	inositol polyphosphate-5-phosphatase K isoform				ENSP00000413937		12-Feb	8.24E-06					1.52E-05			rs752181436,COSM2150351	12-Feb	.		ENST00000421807	Transcript			actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding	ENSG00000132376	g.chr17:1417264G>A	33882			LOW								--	--	1																																		INPP5K_uc002fss.2_5'UTR|INPP5K_uc002fsq.2_5'UTR|INPP5K_uc010cjr.2_5'UTR|INPP5K_uc010vql.1_Intron|INPP5K_uc010vqm.1_Silent_p.V18V|INPP5K_uc010cjs.2_Silent_p.V18V	0,1	1			p.V18V	NM_016532	NP_057616			0,1	INP5K_HUMAN	INPP5K	HGNC	Q9BT40	INP5K_HUMAN			K7EPG6_HUMAN,K7ENF7_HUMAN,I3L0Y0_HUMAN,C9JZB0_HUMAN,B7Z4V9_HUMAN		2	443	-			UPI000006EC12	18			Catalytic (Potential).		SNV	INPP5K,synonymous_variant,p.=,ENST00000421807,NM_016532.3;INPP5K,synonymous_variant,p.=,ENST00000542125,;INPP5K,synonymous_variant,p.=,ENST00000575172,;INPP5K,5_prime_UTR_variant,,ENST00000406424,NM_001135642.1;INPP5K,5_prime_UTR_variant,,ENST00000320345,NM_130766.2;INPP5K,5_prime_UTR_variant,,ENST00000449479,;INPP5K,5_prime_UTR_variant,,ENST00000477910,;INPP5K,5_prime_UTR_variant,,ENST00000498390,;INPP5K,5_prime_UTR_variant,,ENST00000571274,;INPP5K,intron_variant,,ENST00000397335,;INPP5K,intron_variant,,ENST00000574561,;PITPNA,downstream_gene_variant,,ENST00000313486,NM_006224.3;PITPNA,downstream_gene_variant,,ENST00000539476,;PITPNA-AS1,upstream_gene_variant,,ENST00000425081,;INPP5K,synonymous_variant,p.=,ENST00000573790,;INPP5K,synonymous_variant,p.=,ENST00000576646,;INPP5K,synonymous_variant,p.=,ENST00000445774,;INPP5K,3_prime_UTR_variant,,ENST00000574955,;INPP5K,intron_variant,,ENST00000350761,;INPP5K,upstream_gene_variant,,ENST00000460733,;	uc002fsr.2	c.54C>T	443/2988	2	2			c.54C>T						17	SNP	c.(52-54)GTC>GTT	35	35				0	Broad	inositol polyphosphate-5-phosphatase K isoform			1417264		0.448	ENSG00000132376	7624	g.chr17:1417264G>A	actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding							62.486362	KEEP	17	13	-1	45	32	17	13	-1	66.199154	45	32	0.277108	1	0	0	0	0	0	0	1	0	--	--		0	A			INPP5K_uc002fss.2_5'UTR|INPP5K_uc002fsq.2_5'UTR|INPP5K_uc010cjr.2_5'UTR|INPP5K_uc010vql.1_Intron|INPP5K_uc010vqm.1_Silent_p.V18V|INPP5K_uc010cjs.2_Silent_p.V18V	35	GBM-06-0171-TP	p.V18V	G	TCCAAGTCACGACGTGTATGC	NM_016532	NP_057616	1417264	Q9BT40	INP5K_HUMAN	0			2	443	-	A	A			Silent	18			Catalytic (Potential).			
INPP5K	0	broad.mit.edu	GRCh37	17	1419767	1419767	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-26-5134-01	TCGA-26-5134-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000421807.2:c.27G>C	p.Pro9=	p.P9=	ENST00000421807	NM_016532.3	9	ccG/ccC	0			1			G	P	uc002fsr.2	protein_coding	YES	CCDS11004.1			27/1347										0	c.(25-27)CCG>CCC			Gene3D:3.60.10.10	inositol polyphosphate-5-phosphatase K isoform				ENSP00000413937		12-Jan									COSM2157002	12-Jan	.		ENST00000421807	Transcript			actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding	ENSG00000132376	g.chr17:1419767C>G	33882			LOW								--	--	1																																		INPP5K_uc002fss.2_5'UTR|INPP5K_uc002fsq.2_5'UTR|INPP5K_uc010cjr.2_5'UTR|INPP5K_uc010vql.1_5'UTR|INPP5K_uc010vqm.1_Silent_p.P9P|INPP5K_uc010cjs.2_Silent_p.P9P	1	1			p.P9P	NM_016532	NP_057616			1	INP5K_HUMAN	INPP5K	HGNC	Q9BT40	INP5K_HUMAN			K7EPG6_HUMAN,K7ENF7_HUMAN,I3L0Y0_HUMAN,C9JZB0_HUMAN,B7Z4V9_HUMAN		1	416	-			UPI000006EC12	9					SNV	INPP5K,synonymous_variant,p.=,ENST00000421807,NM_016532.3;INPP5K,synonymous_variant,p.=,ENST00000542125,;INPP5K,synonymous_variant,p.=,ENST00000575172,;INPP5K,synonymous_variant,p.=,ENST00000574561,;INPP5K,5_prime_UTR_variant,,ENST00000406424,NM_001135642.1;INPP5K,5_prime_UTR_variant,,ENST00000320345,NM_130766.2;INPP5K,5_prime_UTR_variant,,ENST00000397335,;INPP5K,5_prime_UTR_variant,,ENST00000449479,;INPP5K,5_prime_UTR_variant,,ENST00000477910,;INPP5K,5_prime_UTR_variant,,ENST00000498390,;PITPNA,downstream_gene_variant,,ENST00000313486,NM_006224.3;PITPNA,downstream_gene_variant,,ENST00000539476,;INPP5K,upstream_gene_variant,,ENST00000571274,;PITPNA-AS1,upstream_gene_variant,,ENST00000425081,;INPP5K,synonymous_variant,p.=,ENST00000350761,;INPP5K,synonymous_variant,p.=,ENST00000573790,;INPP5K,synonymous_variant,p.=,ENST00000574955,;INPP5K,synonymous_variant,p.=,ENST00000445774,;PITPNA,downstream_gene_variant,,ENST00000575288,;INPP5K,upstream_gene_variant,,ENST00000576646,;INPP5K,upstream_gene_variant,,ENST00000460733,;	uc002fsr.2	c.27G>C	416/2988	3	3			c.27G>C						17	SNP	c.(25-27)CCG>CCC	2	2				0	Broad	inositol polyphosphate-5-phosphatase K isoform			1419767		0.756	ENSG00000132376	7624	g.chr17:1419767C>G	actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding							33.250566	KEEP	5	9	-1	9	7	5	9	-1	33.250566	9	7	0.5	1	0	0	0	0	0	0	1	0	--	--		0	G			INPP5K_uc002fss.2_5'UTR|INPP5K_uc002fsq.2_5'UTR|INPP5K_uc010cjr.2_5'UTR|INPP5K_uc010vql.1_5'UTR|INPP5K_uc010vqm.1_Silent_p.P9P|INPP5K_uc010cjs.2_Silent_p.P9P	183	GBM-26-5134-TP	p.P9P	C	TCCTGCCTTTCGGCCCGCTCA	NM_016532	NP_057616	1419767	Q9BT40	INP5K_HUMAN	0			1	416	-	G	G			Silent	9						
INPPL1	3636	broad.mit.edu	GRCh37	11	71943788	71943788	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298229.2:c.1831C>T	p.Arg611Cys	p.R611C	ENST00000298229	NM_001567.3	611	Cgc/Tgc	0			1			T	R/C	uc001osf.2	protein_coding	YES	CCDS8213.1			1831/3777									skin(2)|ovary(1)|breast(1)	4	c.(1831-1833)CGC>TGC			Gene3D:3.60.10.10,Pfam_domain:PF03372,hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF15,SMART_domains:SM00128,Superfamily_domains:SSF56219	inositol polyphosphate phosphatase-like 1				ENSP00000298229		15/28	8.24E-06					1.50E-05			rs771815535,COSM3398118	15/28	.		ENST00000298229	Transcript	1		actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	ENSG00000165458	g.chr11:71943788C>T	6080			MODERATE		4.61	high	getma.org/?cm=msa&ty=f&p=SHIP2_HUMAN&rb=429&re=718&var=R611C	getma.org/pdb.php?prot=SHIP2_HUMAN&from=429&to=718&var=R611C	getma.org/?cm=var&var=hg19,11,71943788,C,T&fts=all	R611C	--	--	1																																		INPPL1_uc001osg.2_Missense_Mutation_p.R369C	0,1	1		probably_damaging(1)	p.R611C	NM_001567	NP_001558		deleterious(0)	0,1	SHIP2_HUMAN	INPPL1	HGNC	O15357	SHIP2_HUMAN			H0YFZ4_HUMAN,F5H588_HUMAN,F5GYK9_HUMAN		15	1978	+			UPI000013E4AF	611					SNV	INPPL1,missense_variant,p.Arg369Cys,ENST00000541756,;INPPL1,missense_variant,p.Arg611Cys,ENST00000298229,NM_001567.3;INPPL1,missense_variant,p.Arg369Cys,ENST00000538751,;INPPL1,upstream_gene_variant,,ENST00000541752,;INPPL1,downstream_gene_variant,,ENST00000540329,;INPPL1,upstream_gene_variant,,ENST00000320683,;INPPL1,downstream_gene_variant,,ENST00000537656,;INPPL1,non_coding_transcript_exon_variant,,ENST00000541303,;INPPL1,upstream_gene_variant,,ENST00000545355,;INPPL1,downstream_gene_variant,,ENST00000544806,;INPPL1,downstream_gene_variant,,ENST00000537755,;INPPL1,downstream_gene_variant,,ENST00000541544,;INPPL1,downstream_gene_variant,,ENST00000538339,;INPPL1,upstream_gene_variant,,ENST00000535985,;INPPL1,upstream_gene_variant,,ENST00000542295,;	uc001osf.2	c.1831C>T	2035/4733	2	2			c.1831C>T						11	SNP	c.(1831-1833)CGC>TGC	21	21			skin(2)|ovary(1)|breast(1)	4	Broad	inositol polyphosphate phosphatase-like 1			71943788		0.612	ENSG00000165458	7625	g.chr11:71943788C>T	actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding							295.251378	KEEP	43	52	-1	29	29	43	52	-1	297.185617	29	29	0.625899	1	0	0	0	0	1	0	0	0	--	--		0	T			INPPL1_uc001osg.2_Missense_Mutation_p.R369C	102	GBM-06-5858-TP	p.R611C	C	CCTCAACTACCGCCTGGACAT	NM_001567	NP_001558	71943788	O15357	SHIP2_HUMAN	0			15	1978	+	T	T			Missense_Mutation	611						
INPPL1	3636	broad.mit.edu	GRCh37	11	71942122	71942123	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C			TCGA-06-5858-01	TCGA-06-5858-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298229.2:c.1390dup	p.His464ProfsTer2	p.H464Pfs*2	ENST00000298229	NM_001567.3	462	-/C	0			1			C	-/X	uc001osf.2	protein_coding	YES	CCDS8213.1			1386-1387/3777									skin(2)|ovary(1)|breast(1)	4	c.(1384-1389)ATACCCfs			Gene3D:3.60.10.10,Pfam_domain:PF03372,hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF15,SMART_domains:SM00128,Superfamily_domains:SSF56219	inositol polyphosphate phosphatase-like 1				ENSP00000298229		28-Dec										28-Dec	.		ENST00000298229	Transcript	1		actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	ENSG00000165458	g.chr11:71942122_71942123insC	6080	4		HIGH								--	--	1																																		INPPL1_uc001osg.2_Frame_Shift_Ins_p.I220fs		1			p.I462fs	NM_001567	NP_001558				SHIP2_HUMAN	INPPL1	HGNC	O15357	SHIP2_HUMAN			H0YFZ4_HUMAN,F5H588_HUMAN,F5GYK9_HUMAN		12	1533_1534	+			UPI000013E4AF	462_463					insertion	INPPL1,frameshift_variant,p.His222ProfsTer2,ENST00000541756,;INPPL1,frameshift_variant,p.His464ProfsTer2,ENST00000298229,NM_001567.3;INPPL1,frameshift_variant,p.His222ProfsTer2,ENST00000538751,;INPPL1,downstream_gene_variant,,ENST00000540329,;INPPL1,downstream_gene_variant,,ENST00000537656,;INPPL1,non_coding_transcript_exon_variant,,ENST00000538339,;INPPL1,upstream_gene_variant,,ENST00000541303,;INPPL1,upstream_gene_variant,,ENST00000545355,;INPPL1,upstream_gene_variant,,ENST00000544806,;INPPL1,upstream_gene_variant,,ENST00000537755,;INPPL1,downstream_gene_variant,,ENST00000541544,;INPPL1,upstream_gene_variant,,ENST00000535985,;INPPL1,upstream_gene_variant,,ENST00000542295,;	uc001osf.2	c.1386_1387insC	1590-1591/4733	5	5			c.1386_1387insC						11	INS	c.(1384-1389)ATACCCfs	15	15			skin(2)|ovary(1)|breast(1)	4	Broad	inositol polyphosphate phosphatase-like 1			71942123		0.579	ENSG00000165458	7625	g.chr11:71942122_71942123insC	actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding																				0.07	1	0	0	1	1	0	0	0	0	--	--		0	C			INPPL1_uc001osg.2_Frame_Shift_Ins_p.I220fs	102	GBM-06-5858-TP	p.I462fs	-	CAGTGACCATACCCCATGACAT	NM_001567	NP_001558	71942122	O15357	SHIP2_HUMAN	0			12	1533_1534	+	C	C			Frame_Shift_Ins	462_463						
INPPL1	0	broad.mit.edu	GRCh37	11	71942586	71942586	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-28-5218-01	TCGA-28-5218-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298229.2:c.1542delC	p.Lys515SerfsTer16	p.K515Sfs*16	ENST00000298229	NM_001567.3	514	gtC/gt	0			1			-	V/X	uc001osf.2	protein_coding	YES	CCDS8213.1			1542/3777									skin(2)|ovary(1)|breast(1)	4	c.(1540-1542)GTCfs			Gene3D:3.60.10.10,Pfam_domain:PF03372,hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF15,SMART_domains:SM00128,Superfamily_domains:SSF56219	inositol polyphosphate phosphatase-like 1				ENSP00000298229		13/28										13/28	.		ENST00000298229	Transcript	1		actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	ENSG00000165458	g.chr11:71942586delC	6080			HIGH								--	--	1																																		INPPL1_uc001osg.2_Frame_Shift_Del_p.V272fs		1			p.V514fs	NM_001567	NP_001558				SHIP2_HUMAN	INPPL1	HGNC	O15357	SHIP2_HUMAN			H0YFZ4_HUMAN,F5H588_HUMAN,F5GYK9_HUMAN		13	1689	+			UPI000013E4AF	514					deletion	INPPL1,frameshift_variant,p.Lys515SerfsTer16,ENST00000298229,NM_001567.3;INPPL1,frameshift_variant,p.Lys273SerfsTer16,ENST00000541756,;INPPL1,frameshift_variant,p.Lys273SerfsTer16,ENST00000538751,;INPPL1,downstream_gene_variant,,ENST00000540329,;INPPL1,downstream_gene_variant,,ENST00000537656,;INPPL1,non_coding_transcript_exon_variant,,ENST00000544806,;INPPL1,non_coding_transcript_exon_variant,,ENST00000537755,;INPPL1,upstream_gene_variant,,ENST00000541303,;INPPL1,upstream_gene_variant,,ENST00000545355,;INPPL1,downstream_gene_variant,,ENST00000541544,;INPPL1,downstream_gene_variant,,ENST00000538339,;INPPL1,upstream_gene_variant,,ENST00000535985,;INPPL1,upstream_gene_variant,,ENST00000542295,;	uc001osf.2	c.1542delC	1746/4733	5	5			c.1542delC						11	DEL	c.(1540-1542)GTCfs	43	43			skin(2)|ovary(1)|breast(1)	4	Broad	inositol polyphosphate phosphatase-like 1			71942586		0.567	ENSG00000165458	7625	g.chr11:71942586delC	actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding																				0.59	1	1	0	1	0	0	0	0	0	--	--		0	-			INPPL1_uc001osg.2_Frame_Shift_Del_p.V272fs	224	GBM-28-5218-TP	p.V514fs	C	CAGTGCTGGTCAAGCCAGAGC	NM_001567	NP_001558	71942586	O15357	SHIP2_HUMAN	0			13	1689	+	-	-			Frame_Shift_Del	514						
INS	0	broad.mit.edu	GRCh37	11	2181082	2181082	+	stop_retained_variant	Silent	SNP	C	C	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000250971.3:c.333G>A	p.Ter111=	p.*111=	ENST00000250971	NM_001185097.1	111	taG/taA	0			1			T	*	uc001lvn.1	protein_coding		CCDS7729.1			333/333										0	c.(331-333)TAG>TAA				proinsulin precursor				ENSP00000250971		3-Mar									COSM3397614	3-Mar	.		ENST00000250971	Transcript	1		activation of protein kinase B activity|acute-phase response|alpha-beta T cell activation|endocrine pancreas development|energy reserve metabolic process|fatty acid homeostasis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|glucose metabolic process|glucose transport|insulin receptor signaling pathway|MAPKKK cascade|negative regulation of acute inflammatory response|negative regulation of apoptosis|negative regulation of fatty acid metabolic process|negative regulation of feeding behavior|negative regulation of gluconeogenesis|negative regulation of glycogen catabolic process|negative regulation of lipid catabolic process|negative regulation of NAD(P)H oxidase activity|negative regulation of protein catabolic process|negative regulation of protein secretion|negative regulation of proteolysis|negative regulation of respiratory burst involved in inflammatory response|negative regulation of vasodilation|positive regulation of cell differentiation|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine secretion|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin receptor signaling pathway|positive regulation of lipid biosynthetic process|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of respiratory burst|positive regulation of vasodilation|regulation of cellular amino acid metabolic process|regulation of insulin secretion|regulation of transmembrane transporter activity|wound healing	endoplasmic reticulum lumen|endosome lumen|extracellular space	hormone activity|insulin receptor binding|insulin-like growth factor receptor binding	ENSG00000254647	g.chr11:2181082C>T	6081			LOW								--	--	1																																		INS-IGF2_uc001lvi.2_Intron|INS-IGF2_uc001lvm.2_Intron|INS_uc001lvo.1_Silent_p.*111*|INS_uc009ydg.1_Silent_p.*99*	1				p.*111*	NM_000207	NP_000198			1	INS_HUMAN	INS	HGNC	P01308	INS_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.14)	I3WAC9_HUMAN,F6MZK5_HUMAN		3	388	-		Lung NSC(207;8.94e-06)|all_epithelial(84;3.17e-05)|all_lung(207;3.67e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)	UPI00000017EA	111					SNV	INS,missense_variant,p.Asp70Asn,ENST00000421783,;INS,stop_retained_variant,p.=,ENST00000397262,NM_001185098.1;INS,stop_retained_variant,p.=,ENST00000381330,;INS,stop_retained_variant,p.=,ENST00000250971,NM_001185097.1,NM_000207.2;INS,stop_retained_variant,p.=,ENST00000512523,;INS-IGF2,intron_variant,,ENST00000397270,NM_001042376.2;TH,downstream_gene_variant,,ENST00000381178,NM_199292.2;TH,downstream_gene_variant,,ENST00000381175,NM_199293.2;TH,downstream_gene_variant,,ENST00000352909,NM_000360.3;TH,downstream_gene_variant,,ENST00000333684,;INS-IGF2,upstream_gene_variant,,ENST00000481781,;INS-IGF2,intron_variant,,ENST00000356578,;INS-IGF2,upstream_gene_variant,,ENST00000476874,;	uc001lvn.1	c.333G>A	430/503	2	2			c.333G>A						11	SNP	c.(331-333)TAG>TAA	42	42				0	Broad	proinsulin precursor			2181082		0.612	ENSG00000254647	7626	g.chr11:2181082C>T	activation of protein kinase B activity|acute-phase response|alpha-beta T cell activation|endocrine pancreas development|energy reserve metabolic process|fatty acid homeostasis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|glucose metabolic process|glucose transport|insulin receptor signaling pathway|MAPKKK cascade|negative regulation of acute inflammatory response|negative regulation of apoptosis|negative regulation of fatty acid metabolic process|negative regulation of feeding behavior|negative regulation of gluconeogenesis|negative regulation of glycogen catabolic process|negative regulation of lipid catabolic process|negative regulation of NAD(P)H oxidase activity|negative regulation of protein catabolic process|negative regulation of protein secretion|negative regulation of proteolysis|negative regulation of respiratory burst involved in inflammatory response|negative regulation of vasodilation|positive regulation of cell differentiation|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine secretion|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin receptor signaling pathway|positive regulation of lipid biosynthetic process|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of respiratory burst|positive regulation of vasodilation|regulation of cellular amino acid metabolic process|regulation of insulin secretion|regulation of transmembrane transporter activity|wound healing	endoplasmic reticulum lumen|endosome lumen|extracellular space	hormone activity|insulin receptor binding|insulin-like growth factor receptor binding							7.717882	KEEP	3	1	-1	7	8	3	1	-1	8.581667	7	8	0.230769	1	0	0	0	0	0	0	1	0	--	--		0	T			INS-IGF2_uc001lvi.2_Intron|INS-IGF2_uc001lvm.2_Intron|INS_uc001lvo.1_Silent_p.*111*|INS_uc009ydg.1_Silent_p.*99*	139	GBM-14-0817-TP	p.*111*	C	CGGGCTGCGTCTAGTTGCAGT	NM_000207	NP_000198	2181082	P01308	INS_HUMAN	0	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.14)	3	388	-	T	T		Lung NSC(207;8.94e-06)|all_epithelial(84;3.17e-05)|all_lung(207;3.67e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)	Silent	111						
INSC	0	broad.mit.edu	GRCh37	11	15260573	15260573	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-27-2523-01	TCGA-27-2523-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379554.3:c.1487G>C	p.Arg496Pro	p.R496P	ENST00000379554	NM_001031853.4	496	cGt/cCt	0			1			C	R/P	uc001mly.2	protein_coding	YES	CCDS41621.1			1487/1740									upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5	c.(1486-1488)CGT>CCT			hmmpanther:PTHR21386,hmmpanther:PTHR21386:SF0,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371	inscuteable isoform a				ENSP00000368872		13-Nov									COSM3747867	13-Nov	.		ENST00000379554	Transcript			cell differentiation|nervous system development	cytoplasm	binding	ENSG00000188487	g.chr11:15260573G>C	33116			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=INSC_HUMAN&rb=1&re=577&var=R496P	NA	getma.org/?cm=var&var=hg19,11,15260573,G,C&fts=all	R496P	--	--	1																																		INSC_uc001mlz.2_Missense_Mutation_p.R449P|INSC_uc001mma.2_Missense_Mutation_p.R449P|INSC_uc010rcs.1_Missense_Mutation_p.R484P|INSC_uc001mmb.2_Missense_Mutation_p.R449P|INSC_uc001mmc.2_Missense_Mutation_p.R407P	1	1		probably_damaging(1)	p.R496P	NM_001031853	NP_001027024		deleterious(0)	1	INSC_HUMAN	INSC	HGNC	Q1MX18	INSC_HUMAN					11	1533	+			UPI0000D63F1D	496					SNV	INSC,missense_variant,p.Arg496Pro,ENST00000379554,NM_001031853.4;INSC,missense_variant,p.Arg449Pro,ENST00000379556,NM_001042536.2;INSC,missense_variant,p.Arg407Pro,ENST00000424273,;INSC,missense_variant,p.Arg449Pro,ENST00000528567,NM_001278315.1;INSC,missense_variant,p.Arg449Pro,ENST00000530161,NM_001278313.1,NM_001278314.1;INSC,missense_variant,p.Arg407Pro,ENST00000525218,NM_001278316.1;INSC,non_coding_transcript_exon_variant,,ENST00000447214,;INSC,non_coding_transcript_exon_variant,,ENST00000526102,;	uc001mly.2	c.1487G>C	1533/2954	3	3			c.1487G>C						11	SNP	c.(1486-1488)CGT>CCT	11	11			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5	Broad	inscuteable isoform a			15260573		0.607	ENSG00000188487	7628	g.chr11:15260573G>C	cell differentiation|nervous system development	cytoplasm	binding							0.803195	KEEP	2	1	-1	16	32	2	1	-1	8.472026	16	32	0.073171	1	0	0	0	0	1	0	0	0	--	--		0	C			INSC_uc001mlz.2_Missense_Mutation_p.R449P|INSC_uc001mma.2_Missense_Mutation_p.R449P|INSC_uc010rcs.1_Missense_Mutation_p.R484P|INSC_uc001mmb.2_Missense_Mutation_p.R449P|INSC_uc001mmc.2_Missense_Mutation_p.R407P	201	GBM-27-2523-TP	p.R496P	G	ACCCTGGCTCGTCTCAGCCGA	NM_001031853	NP_001027024	15260573	Q1MX18	INSC_HUMAN	0			11	1533	+	C	C			Missense_Mutation	496						
INSC	387755		GRCh37	11	15198673	15198673	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000379554.3:c.560T>C	p.Met187Thr	p.M187T	ENST00000379554	NM_001031853.4	187	aTg/aCg	0																																																																																																																																																																																																																																												
INSL6	11172	broad.mit.edu	GRCh37	9	5185586	5185586	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01	TCGA-06-0195-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381641.3:c.17G>A	p.Arg6His	p.R6H	ENST00000381641	NM_007179.2	6	cGc/cAc	0			1			T	R/H	uc003zix.2	protein_coding	YES	CCDS6458.1			17/642										0	c.(16-18)CGC>CAC			Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,PIRSF_domain:PIRSF037062,hmmpanther:PTHR12004:SF1,hmmpanther:PTHR12004	insulin-like 6 precursor				ENSP00000371054		2-Jan									COSM3413680	2-Jan	.		ENST00000381641	Transcript				extracellular region	hormone activity	ENSG00000120210	g.chr9:5185586C>T	6089			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=INSL6_HUMAN&rb=1&re=59&var=R6H	NA	getma.org/?cm=var&var=hg19,9,5185586,C,T&fts=all	R6H	--	--	1																																			1	1		benign(0.019)	p.R6H	NM_007179	NP_009110		tolerated(0.2)	1	INSL6_HUMAN	INSL6	HGNC	Q9Y581	INSL6_HUMAN		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)			1	33	-	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)	UPI000012D681	6					SNV	INSL6,missense_variant,p.Arg6His,ENST00000381641,NM_007179.2;	uc003zix.2	c.17G>A	83/758	2	2			c.17G>A						9	SNP	c.(16-18)CGC>CAC	35	35				0	Broad	insulin-like 6 precursor			5185586		0.642	ENSG00000120210	7634	g.chr9:5185586C>T		extracellular region	hormone activity							13.299178	KEEP	9	9	-1	14	18	9	9	-1	14.09582	14	18	0.304348	1	0	0	0	0	1	0	0	0	--	--		0	T				45	GBM-06-0195-TP	p.R6H	C	CAGGGACAAGCGGAGGAGCCG	NM_007179	NP_009110	5185586	Q9Y581	INSL6_HUMAN	0		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)	1	33	-	T	T	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)	Missense_Mutation	6						
INSL6	0	broad.mit.edu	GRCh37	9	5185468	5185468	+	synonymous_variant	Silent	SNP	G	G	A	rs141353328	byFrequency	TCGA-76-4927-01	TCGA-76-4927-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381641.3:c.135C>T	p.Cys45=	p.C45=	ENST00000381641	NM_007179.2	45	tgC/tgT	0	A:0.0057	A:0.0053	1	A:0.0014		A	C	uc003zix.2	protein_coding	YES	CCDS6458.1			135/642										0	c.(133-135)TGC>TGT			Superfamily_domains:SSF56994,PIRSF_domain:PIRSF037062,SMART_domains:SM00078,Gene3D:1.10.100.10,Pfam_domain:PF00049,hmmpanther:PTHR12004:SF1,hmmpanther:PTHR12004	insulin-like 6 precursor		A:0	A:0	ENSP00000371054	A:0	2-Jan	0.00042	0.00423	0.000432					0.000121	rs141353328,COSM1109371	2-Jan	common_variant		ENST00000381641	Transcript		A:0.0016		extracellular region	hormone activity	ENSG00000120210	g.chr9:5185468G>A	6089			LOW								--	--	1																																			0,1	1			p.C45C	NM_007179	NP_009110	A:0		0,1	INSL6_HUMAN	INSL6	HGNC	Q9Y581	INSL6_HUMAN		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)			1	151	-	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)	UPI000012D681	45					SNV	INSL6,synonymous_variant,p.=,ENST00000381641,NM_007179.2;	uc003zix.2	c.135C>T	201/758	2	2			c.135C>T						9	SNP	c.(133-135)TGC>TGT	24	24				0	Broad	insulin-like 6 precursor			5185468		0.542	ENSG00000120210	7634	g.chr9:5185468G>A		extracellular region	hormone activity							194.728061	KEEP	41	37	-1	74	60	41	37	-1	197.626035	74	60	0.370558	1	0	0	0	0	0	0	1	0	--	--		0	A				267	GBM-76-4927-TP	p.C45C	G	TGGCATGGCCGCAGAGTTTTT	NM_007179	NP_009110	5185468	Q9Y581	INSL6_HUMAN	0		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)	1	151	-	A	A	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)	Silent	45						
INSL6	0	broad.mit.edu	GRCh37	9	5185459	5185459	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4929-01	TCGA-76-4929-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381641.3:c.144C>T	p.Ala48=	p.A48=	ENST00000381641	NM_007179.2	48	gcC/gcT	0			1			A	A	uc003zix.2	protein_coding	YES	CCDS6458.1			144/642										0	c.(142-144)GCC>GCT			Superfamily_domains:SSF56994,PIRSF_domain:PIRSF037062,SMART_domains:SM00078,Gene3D:1.10.100.10,Pfam_domain:PF00049,hmmpanther:PTHR12004:SF1,hmmpanther:PTHR12004	insulin-like 6 precursor				ENSP00000371054		2-Jan									COSM3413679	2-Jan	.		ENST00000381641	Transcript				extracellular region	hormone activity	ENSG00000120210	g.chr9:5185459G>A	6089			LOW								--	--	1																																			1	1			p.A48A	NM_007179	NP_009110			1	INSL6_HUMAN	INSL6	HGNC	Q9Y581	INSL6_HUMAN		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)			1	160	-	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)	UPI000012D681	48					SNV	INSL6,synonymous_variant,p.=,ENST00000381641,NM_007179.2;	uc003zix.2	c.144C>T	210/758	2	2			c.144C>T						9	SNP	c.(142-144)GCC>GCT	24	24				0	Broad	insulin-like 6 precursor			5185459		0.532	ENSG00000120210	7634	g.chr9:5185459G>A		extracellular region	hormone activity							211.507592	KEEP	34	33	-1	15	15	34	33	-1	214.436332	15	15	0.693182	1	0	0	0	0	0	0	1	0	--	--		0	A				269	GBM-76-4929-TP	p.A48A	G	GGCTCCAGTTGGCATGGCCGC	NM_007179	NP_009110	5185459	Q9Y581	INSL6_HUMAN	0		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)	1	160	-	A	A	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)	Silent	48						
INSR	0	broad.mit.edu	GRCh37	19	7184472	7184472	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01	TCGA-16-0861-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302850.5:c.829G>A	p.Asp277Asn	p.D277N	ENST00000302850	NM_000208.2	277	Gac/Aac	0			1			T	D/N	uc002mgd.1	protein_coding	YES	CCDS12176.1			829/4149									ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12	c.(829-831)GAC>AAC			Gene3D:2.10.220.10,Pfam_domain:PF00757,PIRSF_domain:PIRSF000620,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF140,SMART_domains:SM00261,Superfamily_domains:SSF57184	insulin receptor isoform Long precursor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)			ENSP00000303830		22-Mar									COSM3404771,COSM3404770	22-Mar	.		ENST00000302850	Transcript	1		activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	ENSG00000171105	g.chr19:7184472C>T	6091			MODERATE		0.2	neutral	getma.org/?cm=msa&ty=f&p=INSR_HUMAN&rb=179&re=340&var=D277N	getma.org/pdb.php?prot=INSR_HUMAN&from=179&to=340&var=D277N	getma.org/?cm=var&var=hg19,19,7184472,C,T&fts=all	D277N	--	--	1																																		INSR_uc002mge.1_Missense_Mutation_p.D277N|INSR_uc002mgf.2_Missense_Mutation_p.D277N	1,1	1		benign(0.341)	p.D277N	NM_000208	NP_000199		tolerated(0.33)	1,1	INSR_HUMAN	INSR	HGNC	P06213	INSR_HUMAN			Q4U0V1_HUMAN,Q2PJC5_HUMAN,Q2PJC4_HUMAN,Q2PJC3_HUMAN,Q2PJC1_HUMAN,Q2MKP2_HUMAN,B4DTR7_HUMAN,A4ZPI8_HUMAN,A4ZPI7_HUMAN,A4ZPI5_HUMAN,A4ZPI3_HUMAN		3	938	-			UPI000020324D	277			Cys-rich.		SNV	INSR,missense_variant,p.Asp277Asn,ENST00000341500,NM_001079817.1;INSR,missense_variant,p.Asp277Asn,ENST00000302850,NM_000208.2;INSR,non_coding_transcript_exon_variant,,ENST00000598216,;	uc002mgd.1	c.829G>A	972/4721	2	2			c.829G>A						19	SNP	c.(829-831)GAC>AAC	17	17			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12	Broad	insulin receptor isoform Long precursor		Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	7184472		0.602	ENSG00000171105	7637	g.chr19:7184472C>T	activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			649			649	95.892391	KEEP	20	19	-1	24	31	20	19	-1	96.75382	24	31	0.390244	1	0	0	0	0	1	0	0	0	--	--		0	T			INSR_uc002mge.1_Missense_Mutation_p.D277N|INSR_uc002mgf.2_Missense_Mutation_p.D277N	156	GBM-16-0861-TP	p.D277N	C	CAGCGCCAGTCCTGGAAGTGG	NM_000208	NP_000199	7184472	P06213	INSR_HUMAN	0			3	938	-	T	T			Missense_Mutation	277			Cys-rich.			
INSR	0	broad.mit.edu	GRCh37	19	7117197	7117197	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01	TCGA-19-2623-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302850.5:c.4019C>T	p.Ala1340Val	p.A1340V	ENST00000302850	NM_000208.2	1340	gCg/gTg	0	A:0		1			A	A/V	uc002mgd.1	protein_coding	YES	CCDS12176.1			4019/4149									ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12	c.(4018-4020)GCG>GTG			PIRSF_domain:PIRSF000620,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF140	insulin receptor isoform Long precursor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)		A:0.0001	ENSP00000303830		22/22	8.24E-05					0.000105		0.000182	rs200400127,COSM240239,COSM1003123	22/22	.		ENST00000302850	Transcript	1		activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	ENSG00000171105	g.chr19:7117197G>A	6091			MODERATE		0.755	neutral	getma.org/?cm=msa&ty=f&p=INSR_HUMAN&rb=1314&re=1380&var=A1340V	NA	getma.org/?cm=var&var=hg19,19,7117197,G,A&fts=all	A1340V	--	--	1																																		INSR_uc002mge.1_Missense_Mutation_p.A1328V	0,1,1	1		benign(0.001)	p.A1340V	NM_000208	NP_000199		tolerated(0.25)	0,1,1	INSR_HUMAN	INSR	HGNC	P06213	INSR_HUMAN			Q4U0V1_HUMAN,Q2PJC5_HUMAN,Q2PJC4_HUMAN,Q2PJC3_HUMAN,Q2PJC1_HUMAN,Q2MKP2_HUMAN,B4DTR7_HUMAN,A4ZPI8_HUMAN,A4ZPI7_HUMAN,A4ZPI5_HUMAN,A4ZPI3_HUMAN		22	4128	-			UPI000020324D	1340			Cytoplasmic (Potential).		SNV	INSR,missense_variant,p.Ala1328Val,ENST00000341500,NM_001079817.1;INSR,missense_variant,p.Ala1340Val,ENST00000302850,NM_000208.2;INSR,downstream_gene_variant,,ENST00000601099,;	uc002mgd.1	c.4019C>T	4162/4721	2	2			c.4019C>T						19	SNP	c.(4018-4020)GCG>GTG	20	20			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12	Broad	insulin receptor isoform Long precursor		Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	7117197		0.592	ENSG00000171105	7637	g.chr19:7117197G>A	activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			649			649	67.394985	KEEP	13	17	-1	65	44	13	17	-1	76.024217	65	44	0.230769	1	0	0	0	0	1	0	0	0	--	--		0	A			INSR_uc002mge.1_Missense_Mutation_p.A1328V	163	GBM-19-2623-TP	p.A1340V	G	CCGGCCCCCCGCCTCCTCCCT	NM_000208	NP_000199	7117197	P06213	INSR_HUMAN	0			22	4128	-	A	A			Missense_Mutation	1340			Cytoplasmic (Potential).			
INSR	0	broad.mit.edu	GRCh37	19	7120678	7120678	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-74-6573-01	TCGA-74-6573-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302850.5:c.3612A>G	p.Ala1204=	p.A1204=	ENST00000302850	NM_000208.2	1204	gcA/gcG	0			1			C	A	uc002mgd.1	protein_coding	YES	CCDS12176.1			3612/4149									ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12	c.(3610-3612)GCA>GCG			Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000620,Prints_domain:PR00109,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF140,SMART_domains:SM00219,Superfamily_domains:SSF56112	insulin receptor isoform Long precursor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)			ENSP00000303830		20/22									COSM3404769,COSM3404768	20/22	.		ENST00000302850	Transcript	1		activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	ENSG00000171105	g.chr19:7120678T>C	6091			LOW								--	--	1																																		INSR_uc002mge.1_Silent_p.A1192A	1,1	1			p.A1204A	NM_000208	NP_000199			1,1	INSR_HUMAN	INSR	HGNC	P06213	INSR_HUMAN			Q4U0V1_HUMAN,Q2PJC5_HUMAN,Q2PJC4_HUMAN,Q2PJC3_HUMAN,Q2PJC1_HUMAN,Q2MKP2_HUMAN,B4DTR7_HUMAN,A4ZPI8_HUMAN,A4ZPI7_HUMAN,A4ZPI5_HUMAN,A4ZPI3_HUMAN		20	3721	-			UPI000020324D	1204			Protein kinase.|Cytoplasmic (Potential).		SNV	INSR,synonymous_variant,p.=,ENST00000341500,NM_001079817.1;INSR,synonymous_variant,p.=,ENST00000302850,NM_000208.2;INSR,non_coding_transcript_exon_variant,,ENST00000601099,;INSR,downstream_gene_variant,,ENST00000593970,;	uc002mgd.1	c.3612A>G	3755/4721	3	3			c.3612A>G						19	SNP	c.(3610-3612)GCA>GCG	2	2			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12	Broad	insulin receptor isoform Long precursor		Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	7120678		0.522	ENSG00000171105	7637	g.chr19:7120678T>C	activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			649			649	69.219755	KEEP	9	15	-1	12	18	9	15	-1	69.289197	12	18	0.46	1	0	0	0	0	0	0	1	0	--	--		0	C			INSR_uc002mge.1_Silent_p.A1192A	260	GBM-74-6573-TP	p.A1204A	T	GGGACTCCGGTGCCATCCACC	NM_000208	NP_000199	7120678	P06213	INSR_HUMAN	0			20	3721	-	C	C			Silent	1204			Protein kinase.|Cytoplasmic (Potential).			
INSRR	3645	broad.mit.edu	GRCh37	1	156823811	156823811	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368195.3:c.370C>T	p.Arg124Cys	p.R124C	ENST00000368195	NM_014215.2	124	Cgt/Tgt	0			1			A	R/C	uc010pht.1	protein_coding	YES	CCDS1160.1			370/3894									lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	c.(370-372)CGT>TGT			hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF107,Gene3D:3.80.20.20,Pfam_domain:PF01030,PIRSF_domain:PIRSF000620,Superfamily_domains:SSF52058	insulin receptor-related receptor precursor				ENSP00000357178		22-Feb	3.29E-05					4.55E-05		6.11E-05	rs769822233,COSM1984565,COSM1984564	22-Feb	.		ENST00000368195	Transcript			protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	ENSG00000027644	g.chr1:156823811G>A	6093			MODERATE								--	--	1																																		NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.R124C	0,1,1	1		probably_damaging(0.991)	p.R124C	NM_014215	NP_055030		deleterious(0)	0,1,1	INSRR_HUMAN	INSRR	HGNC	P14616	INSRR_HUMAN			I6U4P1_HUMAN		2	624	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		UPI000012D8BD	124					SNV	INSRR,missense_variant,p.Arg124Cys,ENST00000368195,NM_014215.2;NTRK1,intron_variant,,ENST00000392302,NM_001007792.1;NTRK1,intron_variant,,ENST00000489021,;NTRK1,intron_variant,,ENST00000530298,;NTRK1,intron_variant,,ENST00000497019,;	uc010pht.1	c.370C>T	767/5101	2	2			c.370C>T						1	SNP	c.(370-372)CGT>TGT	34	34			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	Broad	insulin receptor-related receptor precursor			156823811		0.622	ENSG00000027644	7638	g.chr1:156823811G>A	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			299			299	96.994508	KEEP	10	21	-1	6	6	10	21	-1	99.096925	6	6	0.74359	1	0	0	0	0	1	0	0	0	--	--		0	A			NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.R124C	102	GBM-06-5858-TP	p.R124C	G	GCCACGTCACGCAGATGTGGC	NM_014215	NP_055030	156823811	P14616	INSRR_HUMAN	0			2	624	-	A	A	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		Missense_Mutation	124						
INSRR	0	broad.mit.edu	GRCh37	1	156816384	156816384	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368195.3:c.1737G>A	p.Thr579=	p.T579=	ENST00000368195	NM_014215.2	579	acG/acA	0			1			T	T	uc010pht.1	protein_coding	YES	CCDS1160.1			1737/3894									lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	c.(1735-1737)ACG>ACA			PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF107,Gene3D:2.60.40.10,SMART_domains:SM00060,PIRSF_domain:PIRSF000620,Superfamily_domains:SSF49265	insulin receptor-related receptor precursor				ENSP00000357178		22-Aug	0.000148					3.00E-05		0.000971	rs777041988,COSM2154765,COSM2154764	22-Aug	common_variant		ENST00000368195	Transcript			protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	ENSG00000027644	g.chr1:156816384C>T	6093			LOW								--	--	1																																		NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	0,1,1	1			p.T579T	NM_014215	NP_055030			0,1,1	INSRR_HUMAN	INSRR	HGNC	P14616	INSRR_HUMAN			I6U4P1_HUMAN		8	1991	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		UPI000012D8BD	579			Fibronectin type-III 1.		SNV	INSRR,synonymous_variant,p.=,ENST00000368195,NM_014215.2;NTRK1,intron_variant,,ENST00000392302,NM_001007792.1;NTRK1,intron_variant,,ENST00000489021,;NTRK1,intron_variant,,ENST00000530298,;NTRK1,intron_variant,,ENST00000497019,;	uc010pht.1	c.1737G>A	2134/5101	2	2			c.1737G>A						1	SNP	c.(1735-1737)ACG>ACA	28	28			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	Broad	insulin receptor-related receptor precursor			156816384		0.607	ENSG00000027644	7638	g.chr1:156816384C>T	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			299			299	30.080925	KEEP	10	9	-1	40	26	10	9	-1	37.188085	40	26	0.189873	1	0	0	0	0	0	0	1	0	--	--		0	T			NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	138	GBM-14-0813-TP	p.T579T	C	CAGTGGTTAGCGTGATGGCCC	NM_014215	NP_055030	156816384	P14616	INSRR_HUMAN	0			8	1991	-	T	T	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		Silent	579			Fibronectin type-III 1.			
INTS1	26173		GRCh37	7	1538054	1538054	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000404767.3:c.1419G>A	p.Ala473=	p.A473=	ENST00000404767	NM_001080453.2	473	gcG/gcA	0																																																																																																																																																																																																																																												
INTS10	0	broad.mit.edu	GRCh37	8	19690804	19690804	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01	TCGA-19-2619-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397977.3:c.1502C>T	p.Thr501Met	p.T501M	ENST00000397977	NM_018142.2	501	aCg/aTg	0			1			T	T/M	uc003wzj.2	protein_coding	YES	CCDS6011.2			1502/2133									ovary(1)	1	c.(1501-1503)ACG>ATG			hmmpanther:PTHR16055	integrator complex subunit 10				ENSP00000381064		17-Dec	8.26E-06	0.000106							rs766946946,COSM2156185	17-Dec	.		ENST00000397977	Transcript			snRNA processing	integrator complex	protein binding	ENSG00000104613	g.chr8:19690804C>T	25548			MODERATE		0.205	neutral	getma.org/?cm=msa&ty=f&p=INT10_HUMAN&rb=54&re=708&var=T501M	NA	getma.org/?cm=var&var=hg19,8,19690804,C,T&fts=all	T501M	--	--	1																																			0,1	1		benign(0.417)	p.T501M	NM_018142	NP_060612		deleterious(0.01)	0,1	INT10_HUMAN	INTS10	HGNC	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	E5RJN5_HUMAN		12	1633	+			UPI0000210A61	501					SNV	INTS10,missense_variant,p.Thr501Met,ENST00000397977,NM_018142.2;INTS10,missense_variant,p.Thr84Met,ENST00000518799,;INTS10,downstream_gene_variant,,ENST00000523846,;INTS10,upstream_gene_variant,,ENST00000520670,;INTS10,3_prime_UTR_variant,,ENST00000521357,;INTS10,non_coding_transcript_exon_variant,,ENST00000519493,;INTS10,upstream_gene_variant,,ENST00000521008,;INTS10,downstream_gene_variant,,ENST00000523143,;	uc003wzj.2	c.1502C>T	1900/2804	1	1			c.1502C>T						8	SNP	c.(1501-1503)ACG>ATG	13	13			ovary(1)	1	Broad	integrator complex subunit 10			19690804		0.602	ENSG00000104613	7640	g.chr8:19690804C>T	snRNA processing	integrator complex	protein binding							133.189858	KEEP	18	23	-1	16	18	18	23	-1	133.379986	16	18	0.554054	1	0	0	0	0	1	0	0	0	--	--		0	T				161	GBM-19-2619-TP	p.T501M	C	CAGCTGGCGACGTGCCACTTT	NM_018142	NP_060612	19690804	Q9NVR2	INT10_HUMAN	0		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	12	1633	+	T	T			Missense_Mutation	501						
INTS10	55174		GRCh37	8	19677962	19677962	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000397977.3:c.374C>T	p.Thr125Met	p.T125M	ENST00000397977	NM_018142.2	125	aCg/aTg	0																																																																																																																																																																																																																																												
INTS12	0	broad.mit.edu	GRCh37	4	106604288	106604288	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01	TCGA-28-2502-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340139.5:c.991G>A	p.Val331Met	p.V331M	ENST00000340139	NM_020395.3	331	Gtg/Atg	0			1			T	V/M	uc003hxw.2	protein_coding		CCDS3671.1			991/1389										0	c.(991-993)GTG>ATG			hmmpanther:PTHR13415	integrator complex subunit 12				ENSP00000340737		8-Aug									COSM3408970	8-Aug	.		ENST00000340139	Transcript			snRNA processing	integrator complex	protein binding|zinc ion binding	ENSG00000138785	g.chr4:106604288C>T	25067			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=INT12_HUMAN&rb=255&re=460&var=V331M	NA	getma.org/?cm=var&var=hg19,4,106604288,C,T&fts=all	V331M	--	--	1																																		INTS12_uc010ilr.2_Missense_Mutation_p.V331M	1			benign(0.1)	p.V331M	NM_020395	NP_065128		tolerated(0.08)	1	INT12_HUMAN	INTS12	HGNC	Q96CB8	INT12_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)	E9PGI3_HUMAN,C9JDP3_HUMAN,C9J0M6_HUMAN		8	1249	-			UPI0000072C63	331			Ser-rich.		SNV	INTS12,missense_variant,p.Val331Met,ENST00000451321,NM_001142471.1;INTS12,missense_variant,p.Val331Met,ENST00000394735,;INTS12,missense_variant,p.Val331Met,ENST00000340139,NM_020395.3;ARHGEF38,downstream_gene_variant,,ENST00000420470,NM_001242729.1;ARHGEF38,intron_variant,,ENST00000503289,;INTS12,non_coding_transcript_exon_variant,,ENST00000493425,;RP11-311D14.1,upstream_gene_variant,,ENST00000503155,;	uc003hxw.2	c.991G>A	1206/1710	2	2			c.991G>A						4	SNP	c.(991-993)GTG>ATG	35	35				0	Broad	integrator complex subunit 12			106604288		0.448	ENSG00000138785	7641	g.chr4:106604288C>T	snRNA processing	integrator complex	protein binding|zinc ion binding							206.036281	KEEP	45	53	-1	139	172	45	53	-1	225.999367	139	172	0.249284	1	0	0	0	0	1	0	0	0	--	--		0	T			INTS12_uc010ilr.2_Missense_Mutation_p.V331M	210	GBM-28-2502-TP	p.V331M	C	GTCAAACCCACAGGTTTCTGG	NM_020395	NP_065128	106604288	Q96CB8	INT12_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)	8	1249	-	T	T			Missense_Mutation	331			Ser-rich.			
INTS2	0	broad.mit.edu	GRCh37	17	59952385	59952385	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01	TCGA-19-5952-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000444766.3:c.2495C>T	p.Thr832Met	p.T832M	ENST00000444766	NM_020748.2	832	aCg/aTg	0			1			A	T/M	uc002izn.2	protein_coding	YES	CCDS45750.1			2495/3615									ovary(1)|lung(1)|pancreas(1)	3	c.(2494-2496)ACG>ATG			Pfam_domain:PF14750	integrator complex subunit 2				ENSP00000414237		19/25	2.49E-05		0.000307			7.04E-05			rs770165247,COSM3403081	19/25	.		ENST00000444766	Transcript			snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	ENSG00000108506	g.chr17:59952385G>A	29241			MODERATE		2.085	medium	getma.org/?cm=msa&ty=f&p=INT2_HUMAN&rb=6&re=1202&var=T832M	NA	getma.org/?cm=var&var=hg19,17,59952385,G,A&fts=all	T832M	--	--	1																																		INTS2_uc002izm.2_Missense_Mutation_p.T824M	0,1	1		probably_damaging(0.997)	p.T832M	NM_020748	NP_065799		deleterious(0)	0,1	INT2_HUMAN	INTS2	HGNC	Q9H0H0	INT2_HUMAN			J3KRH0_HUMAN,J3KMZ7_HUMAN		19	2571	-			UPI0000E5A03A	832					SNV	INTS2,missense_variant,p.Thr832Met,ENST00000444766,NM_020748.2;INTS2,missense_variant,p.Thr824Met,ENST00000251334,;Y_RNA,upstream_gene_variant,,ENST00000365491,;INTS2,non_coding_transcript_exon_variant,,ENST00000583822,;INTS2,downstream_gene_variant,,ENST00000584967,;	uc002izn.2	c.2495C>T	2571/5878	2	2			c.2495C>T						17	SNP	c.(2494-2496)ACG>ATG	46	46			ovary(1)|lung(1)|pancreas(1)	3	Broad	integrator complex subunit 2			59952385		0.343	ENSG00000108506	7642	g.chr17:59952385G>A	snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding							19.918742	KEEP	3	4	-1	7	10	3	4	-1	20.434984	7	10	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	A			INTS2_uc002izm.2_Missense_Mutation_p.T824M	172	GBM-19-5952-TP	p.T832M	G	TGCATTAACCGTCATTACCCA	NM_020748	NP_065799	59952385	Q9H0H0	INT2_HUMAN	0			19	2571	-	A	A			Missense_Mutation	832						
INTS2	57508		GRCh37	17	59946709	59946709	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000444766.3:c.3087C>T	p.Val1029=	p.V1029=	ENST00000444766	NM_020748.2	1029	gtC/gtT	0																																																																																																																																																																																																																																												
INTS5	80789	broad.mit.edu	GRCh37	11	62416142	62416142	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-2570-01	TCGA-06-2570-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330574.2:c.1410G>T	p.Leu470Phe	p.L470F	ENST00000330574	NM_030628.1	470	ttG/ttT	0			1			A	L/F	uc001nud.2	protein_coding	YES	CCDS8027.1			1410/3060									ovary(2)	2	c.(1408-1410)TTG>TTT			Pfam_domain:PF14838,hmmpanther:PTHR31697,hmmpanther:PTHR31697:SF2,Low_complexity_(Seg):seg	integrator complex subunit 5				ENSP00000327889		2-Feb									COSM2153116	2-Feb	.		ENST00000330574	Transcript			snRNA processing	integral to membrane|integrator complex	protein binding	ENSG00000185085	g.chr11:62416142C>A	29352			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=INT5_HUMAN&rb=396&re=471&var=L470F	NA	getma.org/?cm=var&var=hg19,11,62416142,C,A&fts=all	L470F	--	--	1																																		GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	1	1		benign(0.053)	p.L470F	NM_030628	NP_085131		tolerated(0.32)	1	INT5_HUMAN	INTS5	HGNC	Q6P9B9	INT5_HUMAN					2	1463	-			UPI0000161948	470					SNV	INTS5,missense_variant,p.Leu470Phe,ENST00000330574,NM_030628.1;GANAB,upstream_gene_variant,,ENST00000346178,NM_198335.3;GANAB,upstream_gene_variant,,ENST00000356638,NM_198334.2;GANAB,upstream_gene_variant,,ENST00000540933,NM_001278194.1;GANAB,upstream_gene_variant,,ENST00000534779,NM_001278193.1,NM_001278192.1;RP11-831H9.11,downstream_gene_variant,,ENST00000528405,;GANAB,upstream_gene_variant,,ENST00000525994,;GANAB,upstream_gene_variant,,ENST00000534419,;GANAB,upstream_gene_variant,,ENST00000532402,;GANAB,upstream_gene_variant,,ENST00000534613,;GANAB,upstream_gene_variant,,ENST00000529737,;GANAB,upstream_gene_variant,,ENST00000526210,;GANAB,upstream_gene_variant,,ENST00000526392,;	uc001nud.2	c.1410G>T	1463/3285	2	2			c.1410G>T						11	SNP	c.(1408-1410)TTG>TTT	29	29			ovary(2)	2	Broad	integrator complex subunit 5			62416142		0.592	ENSG00000185085	7645	g.chr11:62416142C>A	snRNA processing	integral to membrane|integrator complex	protein binding							189.579425	KEEP	30	32	0.516129032	9	15	30	32	0.516129032	193.490378	9	15	0.734177	1	0	0	0	0	1	0	0	0	--	--		0	A			GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	91	GBM-06-2570-TP	p.L470F	C	AAAAGGGCACCAAGCGGGGAG	NM_030628	NP_085131	62416142	Q6P9B9	INT5_HUMAN	0			2	1463	-	A	A			Missense_Mutation	470						
INTS9	0	broad.mit.edu	GRCh37	8	28627526	28627526	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-16-0846-01	TCGA-16-0846-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521022.1:c.1680C>A	p.Ala560=	p.A560=	ENST00000521022	NM_018250.3	560	gcC/gcA	0			1			T	A	uc003xha.2	protein_coding	YES	CCDS34873.1			1680/1977									central_nervous_system(1)|pancreas(1)	2	c.(1678-1680)GCC>GCA			hmmpanther:PTHR11203,hmmpanther:PTHR11203:SF2	integrator complex subunit 9 isoform 1				ENSP00000429065		16/17									COSM3412968	16/17	.		ENST00000521022	Transcript			snRNA processing	integrator complex	protein binding	ENSG00000104299	g.chr8:28627526G>T	25592			LOW								--	--	1																																OREG0018682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	INTS9_uc011lav.1_Silent_p.A536A|INTS9_uc011law.1_Silent_p.A539A|INTS9_uc011lax.1_Silent_p.A453A|INTS9_uc010lvc.2_RNA	1	1			p.A560A	NM_018250	NP_060720			1	INT9_HUMAN	INTS9	HGNC	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	H7BYQ6_HUMAN,E5RJ88_HUMAN		16	1979	-		Ovarian(32;0.0439)	UPI0000071C2E	560					SNV	INTS9,synonymous_variant,p.=,ENST00000416984,NM_001145159.2;INTS9,synonymous_variant,p.=,ENST00000521022,NM_018250.3;INTS9,synonymous_variant,p.=,ENST00000521777,NM_001172562.1;INTS9,synonymous_variant,p.=,ENST00000397363,;INTS9,synonymous_variant,p.=,ENST00000517383,;INTS9,non_coding_transcript_exon_variant,,ENST00000519578,;INTS9,3_prime_UTR_variant,,ENST00000523303,;INTS9,3_prime_UTR_variant,,ENST00000522363,;INTS9,non_coding_transcript_exon_variant,,ENST00000520316,;INTS9,downstream_gene_variant,,ENST00000520005,;	uc003xha.2	c.1680C>A	1762/2544	2	2			c.1680C>A						8	SNP	c.(1678-1680)GCC>GCA	33	33			central_nervous_system(1)|pancreas(1)	2	Broad	integrator complex subunit 9 isoform 1			28627526		0.602	ENSG00000104299	7649	g.chr8:28627526G>T	snRNA processing	integrator complex	protein binding							80.994759	KEEP	15	16	0.483870968	15	16	15	16	0.483870968	80.998611	15	16	0.491228	1	0	0	0	0	0	0	1	0	--	--		0	T	OREG0018682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	INTS9_uc011lav.1_Silent_p.A536A|INTS9_uc011law.1_Silent_p.A539A|INTS9_uc011lax.1_Silent_p.A453A|INTS9_uc010lvc.2_RNA	155	GBM-16-0846-TP	p.A560A	G	TCGTGGGCTGGGCGGGCCGAG	NM_018250	NP_060720	28627526	Q9NV88	INT9_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	16	1979	-	T	T		Ovarian(32;0.0439)	Silent	560						
INTU	27152		GRCh37	4	128564761	128564761	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000335251.6:c.232C>G	p.Leu78Val	p.L78V	ENST00000335251	NM_015693.3	78	Ctc/Gtc	0																																																																																																																																																																																																																																												
IP6K3	0	broad.mit.edu	GRCh37	6	33690701	33690701	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4935-01	TCGA-76-4935-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000293756.4:c.1029G>A	p.Pro343=	p.P343=	ENST00000293756	NM_054111.4	343	ccG/ccA	0			1			T	P	uc010jvf.2	protein_coding		CCDS34435.1			1029/1233										0	c.(1027-1029)CCG>CCA			hmmpanther:PTHR12400,hmmpanther:PTHR12400:SF40,Pfam_domain:PF03770	inositol hexakisphosphate kinase 3				ENSP00000293756		6-Jun	6.59E-05			0.000578		1.50E-05		0.000121	rs756972676,COSM1078161	6-Jun	common_variant		ENST00000293756	Transcript			inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity	ENSG00000161896	g.chr6:33690701C>T	17269			LOW								--	--	1																																		IP6K3_uc003ofb.2_Silent_p.P343P	0,1				p.P343P	NM_001142883	NP_001136355			0,1	IP6K3_HUMAN	IP6K3	HGNC	Q96PC2	IP6K3_HUMAN			Q5TAQ4_HUMAN		7	1565	-			UPI000013E117	343					SNV	IP6K3,synonymous_variant,p.=,ENST00000451316,NM_001142883.1;IP6K3,synonymous_variant,p.=,ENST00000293756,NM_054111.4;	uc010jvf.2	c.1029G>A	1356/2610	2	2			c.1029G>A						6	SNP	c.(1027-1029)CCG>CCA	32	32				0	Broad	inositol hexakisphosphate kinase 3			33690701		0.552	ENSG00000161896	7654	g.chr6:33690701C>T	inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity							-31.322909	KEEP	3	1	-1	86	74	3	1	-1	6.677342	86	74	0.026144	1	0	0	0	0	0	0	1	0	--	--		0	T			IP6K3_uc003ofb.2_Silent_p.P343P	273	GBM-76-4935-TP	p.P343P	C	CGTGAGGATGCGGGCTGCCTG	NM_001142883	NP_001136355	33690701	Q96PC2	IP6K3_HUMAN	0			7	1565	-	T	T			Silent	343						
IPO11	51194	broad.mit.edu	GRCh37	5	61887491	61887491	+	synonymous_variant	Silent	SNP	T	T	A			TCGA-02-0055-01	TCGA-02-0055-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409296.3:c.2790T>A	p.Thr930=	p.T930=	ENST00000409296	NM_001134779.1	930	acT/acA	0			1			A	T	uc003jtc.2	protein_coding		CCDS34167.1			2670/2928									lung(2)|skin(2)	4	c.(2668-2670)ACT>ACA			hmmpanther:PTHR10997,hmmpanther:PTHR10997:SF7,Superfamily_domains:SSF48371	Ran binding protein 11 isoform 2				ENSP00000316651		28/30									COSM3410339,COSM3410338	28/30	.		ENST00000325324	Transcript				cytoplasm|nucleus	protein binding	ENSG00000086200	g.chr5:61887491T>A	20628			LOW								--	--	1																																		IPO11_uc011cqr.1_Silent_p.T930T|IPO11_uc010iwr.2_Silent_p.T155T|IPO11_uc003jte.2_Silent_p.T9T	1,1				p.T890T	NM_016338	NP_057422			1,1	IPO11_HUMAN	IPO11	HGNC	Q9UI26	IPO11_HUMAN		Lung(70;0.0613)	E7EMB7_HUMAN,D6RJB1_HUMAN,D6RCQ2_HUMAN,D6RCN7_HUMAN		28	2860	+		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)	UPI00000737DF	890					SNV	IPO11,synonymous_variant,p.=,ENST00000325324,NM_016338.4;IPO11,synonymous_variant,p.=,ENST00000409296,NM_001134779.1;IPO11,synonymous_variant,p.=,ENST00000511713,;IPO11,synonymous_variant,p.=,ENST00000409534,;IPO11,downstream_gene_variant,,ENST00000511133,;	uc003jtc.2	c.2670T>A	2839/4356	2	2			c.2670T>A						5	SNP	c.(2668-2670)ACT>ACA	29	29			lung(2)|skin(2)	4	Broad	Ran binding protein 11 isoform 2			61887491		0.338	ENSG00000086200	7657	g.chr5:61887491T>A		cytoplasm|nucleus	protein binding							-10.374096	KEEP	3	1	-1	41	52	3	1	-1	7.930323	41	52	0.047619	1	0	0	0	0	0	0	1	0	--	--		0	A			IPO11_uc011cqr.1_Silent_p.T930T|IPO11_uc010iwr.2_Silent_p.T155T|IPO11_uc003jte.2_Silent_p.T9T	4	GBM-02-0055-TP	p.T890T	T	AAACAGGAACTTATAAAGAGT	NM_016338	NP_057422	61887491	Q9UI26	IPO11_HUMAN	0		Lung(70;0.0613)	28	2860	+	A	A		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)	Silent	890						
IPO5	3843	broad.mit.edu	GRCh37	13	98641352	98641352	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0939-01	TCGA-06-0939-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261574.5:c.455A>T	p.Lys152Met	p.K152M	ENST00000261574	NM_002271.4	152	aAg/aTg	0			1			T	K/M	uc001vnf.1	protein_coding					401/3294									ovary(1)|lung(1)|skin(1)	3	c.(400-402)AAG>ATG			Gene3D:1.25.10.10,hmmpanther:PTHR10527,hmmpanther:PTHR10527:SF22,Superfamily_domains:SSF48371	importin 5				ENSP00000350219		29-Jul									COSM2152395	29-Jul	.		ENST00000357602	Transcript			interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	ENSG00000065150	g.chr13:98641352A>T	6402			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=IPO5_HUMAN&rb=1&re=200&var=K134M	getma.org/pdb.php?prot=IPO5_HUMAN&from=1&to=200&var=K134M	getma.org/?cm=var&var=hg19,13,98641352,A,T&fts=all	K134M	--	--	1																																		IPO5_uc001vne.2_Missense_Mutation_p.K152M|IPO5_uc010tik.1_Intron|IPO5_uc010til.1_Missense_Mutation_p.K74M	1			possibly_damaging(0.894)	p.K134M	NM_002271	NP_002262		deleterious(0.01)	1	IPO5_HUMAN	IPO5	HGNC	O00410	IPO5_HUMAN			Q9BVS9_HUMAN,E7ETV3_HUMAN,C9JZD8_HUMAN,C9JZ53_HUMAN,B3KWG6_HUMAN		4	466	+			UPI0000000DBE	134					SNV	IPO5,missense_variant,p.Lys152Met,ENST00000261574,NM_002271.4;IPO5,missense_variant,p.Lys134Met,ENST00000357602,;IPO5,missense_variant,p.Lys136Met,ENST00000469360,;IPO5,missense_variant,p.Lys134Met,ENST00000490680,;IPO5,missense_variant,p.Lys134Met,ENST00000475420,;IPO5,missense_variant,p.Lys105Met,ENST00000403772,;IPO5,missense_variant,p.Lys74Met,ENST00000480641,;IPO5,missense_variant,p.Lys115Met,ENST00000473582,;IPO5,intron_variant,,ENST00000539640,;IPO5,downstream_gene_variant,,ENST00000480611,;IPO5,downstream_gene_variant,,ENST00000481689,;IPO5,downstream_gene_variant,,ENST00000421861,;IPO5,downstream_gene_variant,,ENST00000471898,;IPO5,downstream_gene_variant,,ENST00000481455,;IPO5,downstream_gene_variant,,ENST00000460070,;IPO5,downstream_gene_variant,,ENST00000496368,;IPO5,downstream_gene_variant,,ENST00000463157,;IPO5,3_prime_UTR_variant,,ENST00000497270,;IPO5,upstream_gene_variant,,ENST00000470493,;FTLP8,upstream_gene_variant,,ENST00000446770,;	uc001vnf.1	c.401A>T	775/4335	1	1			c.401A>T						13	SNP	c.(400-402)AAG>ATG	13	13			ovary(1)|lung(1)|skin(1)	3	Broad	importin 5			98641352		0.383	ENSG00000065150	7660	g.chr13:98641352A>T	interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding							80.832457	KEEP	14	25	-1	50	63	14	25	-1	87.589838	50	63	0.256	1	0	0	0	0	1	0	0	0	--	--		0	T			IPO5_uc001vne.2_Missense_Mutation_p.K152M|IPO5_uc010tik.1_Intron|IPO5_uc010til.1_Missense_Mutation_p.K74M	78	GBM-06-0939-TP	p.K134M	A	GAAGGTTTGAAGTTCCTTTTT	NM_002271	NP_002262	98641352	O00410	IPO5_HUMAN	0			4	466	+	T	T			Missense_Mutation	134						
IPO8	10526		GRCh37	12	30809654	30809654	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000256079.4:c.1912C>T	p.Arg638Trp	p.R638W	ENST00000256079	NM_006390.3	638	Cgg/Tgg	0																																																																																																																																																																																																																																												
IPO9	55705	broad.mit.edu	GRCh37	1	201823997	201823997	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361565.4:c.857C>T	p.Ser286Phe	p.S286F	ENST00000361565	NM_018085.4	286	tCc/tTc	0			1			T	S/F	uc001gwz.2	protein_coding	YES	CCDS1415.1			857/3126									ovary(2)	2	c.(856-858)TCC>TTC			Gene3D:1.25.10.10,hmmpanther:PTHR10997,hmmpanther:PTHR10997:SF9,Superfamily_domains:SSF48371	importin 9				ENSP00000354742		24-Aug									COSM2153359	24-Aug	.		ENST00000361565	Transcript			protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	ENSG00000198700	g.chr1:201823997C>T	19425			MODERATE		-0.895	neutral	getma.org/?cm=msa&ty=f&p=IPO9_HUMAN&rb=120&re=319&var=S286F	NA	getma.org/?cm=var&var=hg19,1,201823997,C,T&fts=all	S286F	--	--	1																																			1	1		benign(0.001)	p.S286F	NM_018085	NP_060555		tolerated(0.7)	1	IPO9_HUMAN	IPO9	HGNC	Q96P70	IPO9_HUMAN					8	907	+			UPI000007304B	286					SNV	IPO9,missense_variant,p.Ser286Phe,ENST00000361565,NM_018085.4;IPO9,downstream_gene_variant,,ENST00000464348,;IPO9,downstream_gene_variant,,ENST00000479374,;	uc001gwz.2	c.857C>T	926/11435	1	1			c.857C>T						1	SNP	c.(856-858)TCC>TTC	13	13			ovary(2)	2	Broad	importin 9			201823997		0.403	ENSG00000198700	7663	g.chr1:201823997C>T	protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity							190.360062	KEEP	41	36	-1	50	44	41	36	-1	190.663363	50	44	0.450704	1	0	0	0	0	1	0	0	0	--	--		0	T				100	GBM-06-5418-TP	p.S286F	C	ATGGTGTCCTCCATGCAGCAG	NM_018085	NP_060555	201823997	Q96P70	IPO9_HUMAN	0			8	907	+	T	T			Missense_Mutation	286						
IPP	3652		GRCh37	1	46165793	46165793	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000396478.3:c.1600C>G	p.Leu534Val	p.L534V	ENST00000396478	NM_005897.2	534	Ctt/Gtt	0																																																																																																																																																																																																																																												
IPPK	0	broad.mit.edu	GRCh37	9	95400529	95400529	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs146634367		TCGA-28-1753-01	TCGA-28-1753-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000287996.3:c.670C>T	p.Arg224Trp	p.R224W	ENST00000287996	NM_022755.5	224	Cgg/Tgg	0	A:0.0007	A:0.0008	1	A:0		A	R/W	uc004asl.1	protein_coding	YES	CCDS6699.1			670/1476									ovary(2)	2	c.(670-672)CGG>TGG			Pfam_domain:PF06090,hmmpanther:PTHR14456	inositol 1,3,4,5,6-pentakisphosphate 2-kinase		A:0	A:0	ENSP00000287996	A:0	13-Sep	0.000189	0.000385				1.50E-05		0.0011	rs146634367,COSM3413817	13-Sep	common_variant		ENST00000287996	Transcript		A:0.0006	inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity	ENSG00000127080	g.chr9:95400529G>A	14645			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=IPPK_HUMAN&rb=13&re=458&var=R224W	getma.org/pdb.php?prot=IPPK_HUMAN&from=13&to=458&var=R224W	getma.org/?cm=var&var=hg19,9,95400529,G,A&fts=all	R224W	--	--	1																																		IPPK_uc004ask.1_5'Flank	0,1	1		possibly_damaging(0.766)	p.R224W	NM_022755	NP_073592	A:0.002	deleterious(0.04)	0,1	IPPK_HUMAN	IPPK	HGNC	Q9H8X2	IPPK_HUMAN					9	947	-			UPI000006EBCA	224					SNV	IPPK,missense_variant,p.Arg224Trp,ENST00000287996,NM_022755.5;IPPK,upstream_gene_variant,,ENST00000375522,;	uc004asl.1	c.670C>T	947/4401	2	2			c.670C>T						9	SNP	c.(670-672)CGG>TGG	30	30			ovary(2)	2	Broad	inositol 1,3,4,5,6-pentakisphosphate 2-kinase			95400529		0.562	ENSG00000127080	7665	g.chr9:95400529G>A	inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity							47.131372	KEEP	9	12	-1	28	33	9	12	-1	50.618218	28	33	0.27027	1	0	0	0	0	1	0	0	0	--	--		0	A			IPPK_uc004ask.1_5'Flank	207	GBM-28-1753-TP	p.R224W	G	ACGGGGCTCCGGGCATCTTTG	NM_022755	NP_073592	95400529	Q9H8X2	IPPK_HUMAN	0			9	947	-	A	A			Missense_Mutation	224						
IQCA1	79781	broad.mit.edu	GRCh37	2	237374203	237374203	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01	TCGA-06-2567-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409907.3:c.871G>A	p.Val291Met	p.V291M	ENST00000409907	NM_024726.4	291	Gtg/Atg	0	T:0.0005	T:0	1	T:0		T	V/M	uc002vvz.1	protein_coding	YES	CCDS46549.1			871/2469									ovary(1)	1	c.(871-873)GTG>ATG			hmmpanther:PTHR14690,hmmpanther:PTHR14690:SF2	IQ motif containing with AAA domain 1		T:0	T:0	ENSP00000387347	T:0.001	19-Jun	0.000265	0.000204	8.70E-05			0.000345		0.000305	rs201265396,COSM442545,COSM442544	19-Jun	.		ENST00000409907	Transcript		T:0.0004			ATP binding	ENSG00000132321	g.chr2:237374203C>T	26195			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=IQCA1_HUMAN&rb=5&re=552&var=V291M	NA	getma.org/?cm=var&var=hg19,2,237374203,C,T&fts=all	V291M	--	--	1																																		IQCA1_uc002vwb.2_Missense_Mutation_p.V298M|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Missense_Mutation_p.V291M	0,1,1	1		benign(0.01)	p.V291M	NM_024726	NP_079002	T:0.001	deleterious(0.05)	0,1,1	IQCA1_HUMAN	IQCA1	HGNC	Q86XH1	IQCA1_HUMAN			Q53SG8_HUMAN		6	1053	-			UPI000000DA5B	291					SNV	IQCA1,missense_variant,p.Val291Met,ENST00000409907,NM_024726.4;IQCA1,missense_variant,p.Val287Met,ENST00000309507,NM_001270585.1;IQCA1,missense_variant,p.Val291Met,ENST00000431676,NM_001270584.1;IQCA1,missense_variant,p.Val310Met,ENST00000418802,;IQCA1,missense_variant,p.Val291Met,ENST00000254653,;	uc002vvz.1	c.871G>A	1146/3281	2	2			c.871G>A						2	SNP	c.(871-873)GTG>ATG	47	47			ovary(1)	1	Broad	IQ motif containing with AAA domain 1			237374203		0.473	ENSG00000132321	7666	g.chr2:237374203C>T			ATP binding							114.031036	KEEP	19	24	-1	29	35	19	24	-1	114.784463	29	35	0.404255	1	0	0	0	0	1	0	0	0	--	--		0	T			IQCA1_uc002vwb.2_Missense_Mutation_p.V298M|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Missense_Mutation_p.V291M	89	GBM-06-2567-TP	p.V291M	C	TTGATATCCACGCCTTCTATC	NM_024726	NP_079002	237374203	Q86XH1	IQCA1_HUMAN	0			6	1053	-	T	T			Missense_Mutation	291						
IQCE	23288	broad.mit.edu	GRCh37	7	2611946	2611946	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000402050.2:c.380G>A	p.Arg127His	p.R127H	ENST00000402050	NM_152558.3	127	cGc/cAc	0			1			A	R/H	uc003smo.3	protein_coding	YES	CCDS43542.1			380/2088										0	c.(379-381)CGC>CAC			hmmpanther:PTHR22590	IQ motif containing E isoform 1				ENSP00000385597		22-May	0.000132				0.000615	0.000167		6.13E-05	rs199937900,COSM2149609	22-May	common_variant		ENST00000402050	Transcript						ENSG00000106012	g.chr7:2611946G>A	29171			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=IQCE_HUMAN&rb=1&re=200&var=R127H	NA	getma.org/?cm=var&var=hg19,7,2611946,G,A&fts=all	R127H	--	--	1																																		IQCE_uc010ksm.1_Missense_Mutation_p.R127H|IQCE_uc003sml.1_Missense_Mutation_p.R127H|IQCE_uc011jvy.1_Missense_Mutation_p.R111H|IQCE_uc011jvz.1_Missense_Mutation_p.R62H|IQCE_uc003smk.3_Missense_Mutation_p.R111H|IQCE_uc003smn.3_Missense_Mutation_p.R62H	0,1	1		benign(0.019)	p.R127H	NM_152558	NP_689771		tolerated(0.05)	0,1	IQCE_HUMAN	IQCE	HGNC	Q6IPM2	IQCE_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	C9JX25_HUMAN,C9JP75_HUMAN		5	564	+		Ovarian(82;0.0112)	UPI000020E9EF	127					SNV	IQCE,missense_variant,p.Arg127His,ENST00000402050,NM_152558.3,NM_001100390.1,NM_001287501.1;IQCE,missense_variant,p.Arg76His,ENST00000404984,;IQCE,missense_variant,p.Arg62His,ENST00000325979,;IQCE,missense_variant,p.Arg111His,ENST00000438376,NM_001287500.1;IQCE,missense_variant,p.Arg127His,ENST00000415271,;IQCE,missense_variant,p.Arg62His,ENST00000423395,;IQCE,missense_variant,p.Arg62His,ENST00000422276,;IQCE,3_prime_UTR_variant,,ENST00000325997,;IQCE,non_coding_transcript_exon_variant,,ENST00000476665,;IQCE,non_coding_transcript_exon_variant,,ENST00000470731,;	uc003smo.3	c.380G>A	564/6844	2	2			c.380G>A						7	SNP	c.(379-381)CGC>CAC	22	22				0	Broad	IQ motif containing E isoform 1			2611946		0.617	ENSG00000106012	7670	g.chr7:2611946G>A										54.382115	KEEP	16	12	-1	27	28	16	12	-1	56.891205	27	28	0.306667	1	0	0	0	0	1	0	0	0	--	--		0	A			IQCE_uc010ksm.1_Missense_Mutation_p.R127H|IQCE_uc003sml.1_Missense_Mutation_p.R127H|IQCE_uc011jvy.1_Missense_Mutation_p.R111H|IQCE_uc011jvz.1_Missense_Mutation_p.R62H|IQCE_uc003smk.3_Missense_Mutation_p.R111H|IQCE_uc003smn.3_Missense_Mutation_p.R62H	18	GBM-06-0137-TP	p.R127H	G	CATCTCAGGCGCTCTGCCAGC	NM_152558	NP_689771	2611946	Q6IPM2	IQCE_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	5	564	+	A	A		Ovarian(82;0.0112)	Missense_Mutation	127						
IQCE	0	broad.mit.edu	GRCh37	7	2611279	2611279	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0786-01	TCGA-14-0786-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000402050.2:c.250G>A	p.Ala84Thr	p.A84T	ENST00000402050	NM_152558.3	84	Gca/Aca	0			1			A	A/T	uc003smo.3	protein_coding	YES	CCDS43542.1			250/2088										0	c.(250-252)GCA>ACA			hmmpanther:PTHR22590	IQ motif containing E isoform 1				ENSP00000385597		22-Apr	7.46E-05	0.000227	0.00035			1.58E-05		6.08E-05	rs775525262,COSM3411951	22-Apr	.		ENST00000402050	Transcript						ENSG00000106012	g.chr7:2611279G>A	29171			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=IQCE_HUMAN&rb=1&re=200&var=A84T	NA	getma.org/?cm=var&var=hg19,7,2611279,G,A&fts=all	A84T	--	--	1																																		IQCE_uc010ksm.1_Missense_Mutation_p.A84T|IQCE_uc003sml.1_Missense_Mutation_p.A84T|IQCE_uc011jvy.1_Missense_Mutation_p.A68T|IQCE_uc011jvz.1_Missense_Mutation_p.A19T|IQCE_uc003smk.3_Missense_Mutation_p.A68T|IQCE_uc003smn.3_Missense_Mutation_p.A19T	0,1	1		benign(0.014)	p.A84T	NM_152558	NP_689771		tolerated(0.61)	0,1	IQCE_HUMAN	IQCE	HGNC	Q6IPM2	IQCE_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	C9JX25_HUMAN,C9JP75_HUMAN		4	434	+		Ovarian(82;0.0112)	UPI000020E9EF	84					SNV	IQCE,missense_variant,p.Ala84Thr,ENST00000402050,NM_152558.3,NM_001100390.1,NM_001287501.1;IQCE,missense_variant,p.Ala33Thr,ENST00000404984,;IQCE,missense_variant,p.Ala19Thr,ENST00000325979,;IQCE,missense_variant,p.Ala68Thr,ENST00000438376,NM_001287500.1;IQCE,missense_variant,p.Ala84Thr,ENST00000415271,;IQCE,missense_variant,p.Ala19Thr,ENST00000422276,;IQCE,missense_variant,p.Ala19Thr,ENST00000423395,;IQCE,3_prime_UTR_variant,,ENST00000325997,;IQCE,non_coding_transcript_exon_variant,,ENST00000476665,;IQCE,non_coding_transcript_exon_variant,,ENST00000470731,;	uc003smo.3	c.250G>A	434/6844	2	2			c.250G>A						7	SNP	c.(250-252)GCA>ACA	27	27				0	Broad	IQ motif containing E isoform 1			2611279		0.572	ENSG00000106012	7670	g.chr7:2611279G>A										-27.916748	KEEP	2	2	-1	78	81	2	2	-1	6.621155	78	81	0.028369	1	0	0	0	0	1	0	0	0	--	--		0	A			IQCE_uc010ksm.1_Missense_Mutation_p.A84T|IQCE_uc003sml.1_Missense_Mutation_p.A84T|IQCE_uc011jvy.1_Missense_Mutation_p.A68T|IQCE_uc011jvz.1_Missense_Mutation_p.A19T|IQCE_uc003smk.3_Missense_Mutation_p.A68T|IQCE_uc003smn.3_Missense_Mutation_p.A19T	134	GBM-14-0786-TP	p.A84T	G	GCTGGGAACCGCAAAGCCAGG	NM_152558	NP_689771	2611279	Q6IPM2	IQCE_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	4	434	+	A	A		Ovarian(82;0.0112)	Missense_Mutation	84						
IQCE	0	broad.mit.edu	GRCh37	7	2613077	2613077	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-41-4097-01	TCGA-41-4097-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000402050.2:c.420C>A	p.Tyr140Ter	p.Y140*	ENST00000402050	NM_152558.3	140	taC/taA	0			1			A	Y/*	uc003smo.3	protein_coding	YES	CCDS43542.1			420/2088										0	c.(418-420)TAC>TAA			hmmpanther:PTHR22590	IQ motif containing E isoform 1				ENSP00000385597		22-Jun									COSM3411952	22-Jun	.		ENST00000402050	Transcript						ENSG00000106012	g.chr7:2613077C>A	29171			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,2613077,C,A&fts=all	Y140*	--	--	1																																		IQCE_uc010ksm.1_Nonsense_Mutation_p.Y140*|IQCE_uc003sml.1_Nonsense_Mutation_p.Y140*|IQCE_uc011jvy.1_Nonsense_Mutation_p.Y124*|IQCE_uc011jvz.1_Nonsense_Mutation_p.Y75*|IQCE_uc003smk.3_Nonsense_Mutation_p.Y124*|IQCE_uc003smn.3_Nonsense_Mutation_p.Y75*	1	1			p.Y140*	NM_152558	NP_689771			1	IQCE_HUMAN	IQCE	HGNC	Q6IPM2	IQCE_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	C9JX25_HUMAN,C9JP75_HUMAN		6	604	+		Ovarian(82;0.0112)	UPI000020E9EF	140					SNV	IQCE,stop_gained,p.Tyr140Ter,ENST00000402050,NM_152558.3,NM_001100390.1,NM_001287501.1;IQCE,stop_gained,p.Tyr89Ter,ENST00000404984,;IQCE,stop_gained,p.Tyr75Ter,ENST00000325979,;IQCE,stop_gained,p.Tyr124Ter,ENST00000438376,NM_001287500.1;IQCE,stop_gained,p.Tyr176Ter,ENST00000415271,;IQCE,stop_gained,p.Tyr75Ter,ENST00000423395,;IQCE,stop_gained,p.Tyr75Ter,ENST00000422276,;IQCE,3_prime_UTR_variant,,ENST00000325997,;IQCE,non_coding_transcript_exon_variant,,ENST00000476665,;IQCE,non_coding_transcript_exon_variant,,ENST00000470731,;	uc003smo.3	c.420C>A	604/6844	5	2			c.420C>A						7	SNP	c.(418-420)TAC>TAA	41	41				0	Broad	IQ motif containing E isoform 1			2613077		0.343	ENSG00000106012	7670	g.chr7:2613077C>A										-13.856764	KEEP	2	2	0.5	47	52	2	2	0.5	6.666611	47	52	0.034483	1	0	0	0	0	0	1	0	0	--	--		0	A			IQCE_uc010ksm.1_Nonsense_Mutation_p.Y140*|IQCE_uc003sml.1_Nonsense_Mutation_p.Y140*|IQCE_uc011jvy.1_Nonsense_Mutation_p.Y124*|IQCE_uc011jvz.1_Nonsense_Mutation_p.Y75*|IQCE_uc003smk.3_Nonsense_Mutation_p.Y124*|IQCE_uc003smn.3_Nonsense_Mutation_p.Y75*	257	GBM-41-4097-TP	p.Y140*	C	CTCCTGTCTACAGAGAAAAAG	NM_152558	NP_689771	2613077	Q6IPM2	IQCE_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	6	604	+	A	A		Ovarian(82;0.0112)	Nonsense_Mutation	140						
IQCE	23288		GRCh37	7	2644610	2644610	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000402050.2:c.1728A>G	p.Pro576=	p.P576=	ENST00000402050	NM_152558.3	576	ccA/ccG	0																																																																																																																																																																																																																																												
IQCF3	401067	broad.mit.edu	GRCh37	3	51863721	51863721	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01	TCGA-06-0744-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000456080.1:c.59G>A	p.Arg20Gln	p.R20Q	ENST00000456080		20	cGg/cAg	0			1			A	R/Q	uc010hlx.1	protein_coding		CCDS46837.1			59/465									ovary(1)	1	c.(58-60)CGG>CAG			Low_complexity_(Seg):seg,hmmpanther:PTHR21633:SF5,hmmpanther:PTHR21633	IQ motif containing F3				ENSP00000409373		7-Jun	4.13E-05		0.000183			1.55E-05		0.000132	rs781398221,COSM2151667,COSM2151668	7-Jun	.		ENST00000437810	Transcript						ENSG00000229972	g.chr3:51863721G>A	31816			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=IQCF3_HUMAN&rb=1&re=33&var=R20Q	NA	getma.org/?cm=var&var=hg19,3,51863721,G,A&fts=all	R20Q	--	--	1																																		IQCF1_uc003dbq.3_Intron|IQCF3_uc010hlw.1_RNA|IQCF3_uc011bdw.1_RNA	0,1,1			benign(0)	p.R20Q	NM_001085479	NP_001078948		tolerated(0.67)	0,1,1	IQCF3_HUMAN	IQCF3	HGNC	P0C7M6	IQCF3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	B2RUV0_HUMAN		4	400	+			UPI000015EE9E	20					SNV	IQCF3,missense_variant,p.Arg20Gln,ENST00000456080,;IQCF3,missense_variant,p.Arg20Gln,ENST00000437810,NM_001085479.2;IQCF3,missense_variant,p.Arg20Gln,ENST00000446775,NM_001207023.1;IQCF3,missense_variant,p.Arg20Gln,ENST00000440739,;IQCF3,missense_variant,p.Arg20Gln,ENST00000444293,;IQCF3,non_coding_transcript_exon_variant,,ENST00000472485,;IQCF3,upstream_gene_variant,,ENST00000462079,;IQCF3,non_coding_transcript_exon_variant,,ENST00000474242,;IQCF3,non_coding_transcript_exon_variant,,ENST00000465028,;	uc010hlx.1	c.59G>A	838/1270	2	2			c.59G>A						3	SNP	c.(58-60)CGG>CAG	18	18			ovary(1)	1	Broad	IQ motif containing F3			51863721		0.522	ENSG00000229972	7673	g.chr3:51863721G>A										47.653904	KEEP	6	9	-1	6	11	6	9	-1	47.661051	6	11	0.482759	1	0	0	0	0	1	0	0	0	--	--		0	A			IQCF1_uc003dbq.3_Intron|IQCF3_uc010hlw.1_RNA|IQCF3_uc011bdw.1_RNA	66	GBM-06-0744-TP	p.R20Q	G	AGACAGAGGCGGCAGAAGGTA	NM_001085479	NP_001078948	51863721	P0C7M6	IQCF3_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	400	+	A	A			Missense_Mutation	20						
IQCG	84223		GRCh37	3	197616555	197616555	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000265239.6:c.1228C>T	p.Arg410Trp	p.R410W	ENST00000265239	NM_032263.3	410	Cgg/Tgg	0																																																																																																																																																																																																																																												
IQCH	0	broad.mit.edu	GRCh37	15	67664811	67664811	+	synonymous_variant	Silent	SNP	C	C	T	rs111681102	byFrequency	TCGA-27-1837-01	TCGA-27-1837-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335894.4:c.1116C>T	p.Ala372=	p.A372=	ENST00000335894	NM_001031715.2	372	gcC/gcT	0	T:0.0032	T:0.0068	1	T:0		T	A	uc002aqo.1	protein_coding	YES	CCDS32273.1			1116/3084									skin(3)|ovary(1)	4	c.(1114-1116)GCC>GCT			PROSITE_profiles:PS50096,hmmpanther:PTHR14465,hmmpanther:PTHR14465:SF0	IQ motif containing H isoform 1		T:0	T:0	ENSP00000336861	T:0	21-Sep	0.000379	0.00405	8.66E-05			1.50E-05		0.000121	rs111681102,COSM3401881,COSM3401882	21-Sep	common_variant		ENST00000335894	Transcript		T:0.0018				ENSG00000103599	g.chr15:67664811C>T	25721			LOW								--	--	1																																		IQCH_uc010ujv.1_Silent_p.A191A|IQCH_uc002aqn.1_Silent_p.A199A|IQCH_uc002aqq.1_Silent_p.A120A|IQCH_uc002aqp.1_Silent_p.A124A	0,1,1	1			p.A372A	NM_001031715	NP_001026885	T:0		0,1,1	IQCH_HUMAN	IQCH	HGNC	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	H3BRL4_HUMAN		9	1163	+			UPI000013CCE9	372			IQ.		SNV	IQCH,synonymous_variant,p.=,ENST00000335894,NM_001031715.2;IQCH,synonymous_variant,p.=,ENST00000546225,NM_001284347.1;IQCH,synonymous_variant,p.=,ENST00000358767,;IQCH,synonymous_variant,p.=,ENST00000360277,NM_001284348.1;IQCH,upstream_gene_variant,,ENST00000561357,;IQCH,3_prime_UTR_variant,,ENST00000514049,;IQCH,3_prime_UTR_variant,,ENST00000559568,NM_001284349.1;IQCH,downstream_gene_variant,,ENST00000535744,;IQCH,downstream_gene_variant,,ENST00000561339,;	uc002aqo.1	c.1116C>T	1182/4208	1	1			c.1116C>T						15	SNP	c.(1114-1116)GCC>GCT	7	7			skin(3)|ovary(1)	4	Broad	IQ motif containing H isoform 1			67664811		0.468	ENSG00000103599	7675	g.chr15:67664811C>T										113.196261	KEEP	28	23	-1	42	50	28	23	-1	115.246115	42	50	0.354545	1	0	0	0	0	0	0	1	0	--	--		0	T			IQCH_uc010ujv.1_Silent_p.A191A|IQCH_uc002aqn.1_Silent_p.A199A|IQCH_uc002aqq.1_Silent_p.A120A|IQCH_uc002aqp.1_Silent_p.A124A	196	GBM-27-1837-TP	p.A372A	C	ATTCGGAGGCCGCCATGAAGA	NM_001031715	NP_001026885	67664811	Q86VS3	IQCH_HUMAN	0		Colorectal(3;0.0856)	9	1163	+	T	T			Silent	372			IQ.			
IQCK	124152	broad.mit.edu	GRCh37	16	19729642	19729642	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0645-01	TCGA-06-0645-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320394.6:c.14G>C	p.Arg5Pro	p.R5P	ENST00000320394	NM_153208.1	5	cGg/cCg	0			1			C	R/P	uc002dgr.2	protein_coding	YES	CCDS10580.1			14/864									skin(1)	1	c.(13-15)CGG>CCG				IQ motif containing K				ENSP00000324901		10-Feb									COSM3747986	10-Feb	.		ENST00000320394	Transcript						ENSG00000174628	g.chr16:19729642G>C	28556			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=IQCK_HUMAN&rb=1&re=279&var=R5P	NA	getma.org/?cm=var&var=hg19,16,19729642,G,C&fts=all	R5P	--	--	1																																		IQCK_uc002dgs.2_RNA|IQCK_uc010vat.1_Missense_Mutation_p.R5P|IQCK_uc010bwc.2_RNA|IQCK_uc010vau.1_5'UTR|C16orf88_uc002dgq.2_5'Flank	1	1		benign(0.011)	p.R5P	NM_153208	NP_694940		tolerated_low_confidence(0.25)	1	IQCK_HUMAN	IQCK	HGNC	Q8N0W5	IQCK_HUMAN			B4E1V3_HUMAN		2	713	+			UPI0000072C5C	5					SNV	IQCK,missense_variant,p.Arg5Pro,ENST00000320394,NM_153208.1;IQCK,missense_variant,p.Arg5Pro,ENST00000541926,;IQCK,missense_variant,p.Arg5Pro,ENST00000564186,;IQCK,5_prime_UTR_variant,,ENST00000433597,;KNOP1,upstream_gene_variant,,ENST00000219837,NM_001012991.2;KNOP1,upstream_gene_variant,,ENST00000564480,;KNOP1,upstream_gene_variant,,ENST00000567367,;AC002550.5,downstream_gene_variant,,ENST00000565916,;IQCK,missense_variant,p.Arg5Pro,ENST00000308214,;IQCK,missense_variant,p.Arg5Pro,ENST00000568126,;IQCK,missense_variant,p.Arg3Pro,ENST00000561839,;IQCK,missense_variant,p.Arg5Pro,ENST00000564955,;IQCK,non_coding_transcript_exon_variant,,ENST00000568300,;IQCK,non_coding_transcript_exon_variant,,ENST00000564515,;KNOP1,upstream_gene_variant,,ENST00000565844,;IQCK,upstream_gene_variant,,ENST00000561935,;IQCK,upstream_gene_variant,,ENST00000566312,;	uc002dgr.2	c.14G>C	713/2600	3	3			c.14G>C						16	SNP	c.(13-15)CGG>CCG	9	9			skin(1)	1	Broad	IQ motif containing K			19729642		0.692	ENSG00000174628	7677	g.chr16:19729642G>C										6.04778	KEEP	2	2	-1	6	3	2	2	-1	6.501119	6	3	0.25	1	0	0	0	0	1	0	0	0	--	--		0	C			IQCK_uc002dgs.2_RNA|IQCK_uc010vat.1_Missense_Mutation_p.R5P|IQCK_uc010bwc.2_RNA|IQCK_uc010vau.1_5'UTR|C16orf88_uc002dgq.2_5'Flank	59	GBM-06-0645-TP	p.R5P	G	GCGGCACCGCGGCAAATCCCC	NM_153208	NP_694940	19729642	Q8N0W5	IQCK_HUMAN	0			2	713	+	C	C			Missense_Mutation	5						
IQCK	0	broad.mit.edu	GRCh37	16	19729740	19729740	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-4210-01	TCGA-32-4210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320394.6:c.112G>C	p.Glu38Gln	p.E38Q	ENST00000320394	NM_153208.1	38	Gag/Cag	0		C:0.0008	1	C:0		C	E/Q	uc002dgr.2	protein_coding	YES	CCDS10580.1			112/864									skin(1)	1	c.(112-114)GAG>CAG				IQ motif containing K		C:0		ENSP00000324901	C:0	10-Feb	8.27E-06	0.000161							rs545651391,COSM3402129	10-Feb	.		ENST00000320394	Transcript		C:0.0002				ENSG00000174628	g.chr16:19729740G>C	28556			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=IQCK_HUMAN&rb=1&re=279&var=E38Q	NA	getma.org/?cm=var&var=hg19,16,19729740,G,C&fts=all	E38Q	--	--	1																																		IQCK_uc002dgs.2_RNA|IQCK_uc010vat.1_Missense_Mutation_p.E38Q|IQCK_uc010bwc.2_RNA|IQCK_uc010vau.1_5'UTR|C16orf88_uc002dgq.2_5'Flank	0,1	1		possibly_damaging(0.887)	p.E38Q	NM_153208	NP_694940	C:0	deleterious_low_confidence(0.03)	0,1	IQCK_HUMAN	IQCK	HGNC	Q8N0W5	IQCK_HUMAN			B4E1V3_HUMAN		2	811	+			UPI0000072C5C	38					SNV	IQCK,missense_variant,p.Glu38Gln,ENST00000320394,NM_153208.1;IQCK,missense_variant,p.Glu38Gln,ENST00000541926,;IQCK,missense_variant,p.Glu38Gln,ENST00000564186,;IQCK,5_prime_UTR_variant,,ENST00000433597,;KNOP1,upstream_gene_variant,,ENST00000219837,NM_001012991.2;KNOP1,upstream_gene_variant,,ENST00000564480,;KNOP1,upstream_gene_variant,,ENST00000567367,;AC002550.5,downstream_gene_variant,,ENST00000565916,;IQCK,missense_variant,p.Glu38Gln,ENST00000308214,;IQCK,missense_variant,p.Glu38Gln,ENST00000568126,;IQCK,missense_variant,p.Glu36Gln,ENST00000561839,;IQCK,missense_variant,p.Glu38Gln,ENST00000564955,;IQCK,missense_variant,p.Glu32Gln,ENST00000561935,;IQCK,non_coding_transcript_exon_variant,,ENST00000568300,;IQCK,non_coding_transcript_exon_variant,,ENST00000564515,;IQCK,non_coding_transcript_exon_variant,,ENST00000566312,;KNOP1,upstream_gene_variant,,ENST00000565844,;	uc002dgr.2	c.112G>C	811/2600	3	3			c.112G>C						16	SNP	c.(112-114)GAG>CAG	16	16			skin(1)	1	Broad	IQ motif containing K			19729740		0.652	ENSG00000174628	7677	g.chr16:19729740G>C										6.54911	KEEP	2	0	-1	4	11	2	0	-1	6.836311	4	11	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	C			IQCK_uc002dgs.2_RNA|IQCK_uc010vat.1_Missense_Mutation_p.E38Q|IQCK_uc010bwc.2_RNA|IQCK_uc010vau.1_5'UTR|C16orf88_uc002dgq.2_5'Flank	245	GBM-32-4210-TP	p.E38Q	G	CGCGTCCCGCGAGCTGCCTGT	NM_153208	NP_694940	19729740	Q8N0W5	IQCK_HUMAN	0			2	811	+	C	C			Missense_Mutation	38						
IQGAP2	0	broad.mit.edu	GRCh37	5	75998408	75998408	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-87-5896-01	TCGA-87-5896-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274364.6:c.4607A>G	p.Asn1536Ser	p.N1536S	ENST00000274364	NM_006633.2	1536	aAt/aGt	0			1			G	N/S	uc003kek.2	protein_coding	YES	CCDS34188.1			4607/4728									ovary(6)|central_nervous_system(1)	7	c.(4606-4608)AAT>AGT			Superfamily_domains:0050767,hmmpanther:PTHR14149,hmmpanther:PTHR14149:SF12	IQ motif containing GTPase activating protein 2				ENSP00000274364		35/36	4.12E-05					7.51E-05			rs201167699,COSM3410417	35/36	.		ENST00000274364	Transcript			small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	ENSG00000145703	g.chr5:75998408A>G	6111			MODERATE		0.605	neutral	getma.org/?cm=msa&ty=f&p=IQGA2_HUMAN&rb=1502&re=1575&var=N1536S	getma.org/pdb.php?prot=IQGA2_HUMAN&from=1502&to=1575&var=N1536S	getma.org/?cm=var&var=hg19,5,75998408,A,G&fts=all	N1536S	--	--	1																																		IQGAP2_uc011csv.1_Missense_Mutation_p.N1032S|IQGAP2_uc003kel.2_Missense_Mutation_p.N1032S	0,1	1		benign(0.056)	p.N1536S	NM_006633	NP_006624		tolerated(0.05)	0,1	IQGA2_HUMAN	IQGAP2	HGNC	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	E7EWC2_HUMAN,D6R939_HUMAN		35	4829	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	UPI000020CB2C	1536					SNV	IQGAP2,missense_variant,p.Asn1536Ser,ENST00000274364,NM_006633.2,NM_001285460.1;IQGAP2,missense_variant,p.Asn1038Ser,ENST00000379730,;IQGAP2,missense_variant,p.Asn1032Ser,ENST00000502745,NM_001285462.1;IQGAP2,missense_variant,p.Asn1032Ser,ENST00000396234,NM_001285461.1;IQGAP2,downstream_gene_variant,,ENST00000505766,;CTD-2384B11.2,intron_variant,,ENST00000507514,;IQGAP2,non_coding_transcript_exon_variant,,ENST00000508410,;IQGAP2,3_prime_UTR_variant,,ENST00000504477,;	uc003kek.2	c.4607A>G	4904/5844	3	3			c.4607A>G						5	SNP	c.(4606-4608)AAT>AGT	56	56			ovary(6)|central_nervous_system(1)	7	Broad	IQ motif containing GTPase activating protein 2			75998408		0.353	ENSG00000145703	7679	g.chr5:75998408A>G	small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity							63.804335	KEEP	9	13	-1	15	16	9	13	-1	64.261732	15	16	0.395833	1	0	0	0	0	1	0	0	0	--	--		0	G			IQGAP2_uc011csv.1_Missense_Mutation_p.N1032S|IQGAP2_uc003kel.2_Missense_Mutation_p.N1032S	291	GBM-87-5896-TP	p.N1536S	A	GTGCAACTCAATATTCAGGTA	NM_006633	NP_006624	75998408	Q13576	IQGA2_HUMAN	0		all cancers(79;1.38e-36)	35	4829	+	G	G		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	Missense_Mutation	1536						
IQGAP3	128239	broad.mit.edu	GRCh37	1	156503843	156503843	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-1804-01	TCGA-06-1804-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361170.2:c.3831C>T	p.Pro1277=	p.P1277=	ENST00000361170	NM_178229.4	1277	ccC/ccT	0			1			A	P	uc001fpf.2	protein_coding	YES	CCDS1144.1			3831/4896									ovary(5)|skin(1)	6	c.(3829-3831)CCC>CCT			hmmpanther:PTHR14149,hmmpanther:PTHR14149:SF10,SMART_domains:SM00323,Superfamily_domains:SSF48350	IQ motif containing GTPase activating protein 3				ENSP00000354451		30/38									COSM2152481	30/38	.		ENST00000361170	Transcript			small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	ENSG00000183856	g.chr1:156503843G>A	20669			LOW								--	--	1																																			1	1			p.P1277P	NM_178229	NP_839943			1	IQGA3_HUMAN	IQGAP3	HGNC	Q86VI3	IQGA3_HUMAN			F2Z2E2_HUMAN		30	3906	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		UPI000046FFDD	1277					SNV	IQGAP3,synonymous_variant,p.=,ENST00000361170,NM_178229.4;snoU13,downstream_gene_variant,,ENST00000458777,;IQGAP3,downstream_gene_variant,,ENST00000498755,;IQGAP3,downstream_gene_variant,,ENST00000476565,;IQGAP3,synonymous_variant,p.=,ENST00000491900,;	uc001fpf.2	c.3831C>T	3842/5988	2	2			c.3831C>T						1	SNP	c.(3829-3831)CCC>CCT	45	45			ovary(5)|skin(1)	6	Broad	IQ motif containing GTPase activating protein 3			156503843		0.592	ENSG00000183856	7680	g.chr1:156503843G>A	small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity							135.788394	KEEP	17	35	-1	46	40	17	35	-1	137.34784	46	40	0.382812	1	0	0	0	0	0	0	1	0	--	--		0	A				79	GBM-06-1804-TP	p.P1277P	G	TGTACACCATGGGTTTGGCCA	NM_178229	NP_839943	156503843	Q86VI3	IQGA3_HUMAN	0			30	3906	-	A	A	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		Silent	1277						
IQGAP3	0	broad.mit.edu	GRCh37	1	156524129	156524129	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-6698-01	TCGA-06-6698-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361170.2:c.1346T>C	p.Leu449Pro	p.L449P	ENST00000361170	NM_178229.4	449	cTg/cCg	0			1			G	L/P	uc001fpf.2	protein_coding	YES	CCDS1144.1			1346/4896									ovary(5)|skin(1)	6	c.(1345-1347)CTG>CCG			hmmpanther:PTHR14149,hmmpanther:PTHR14149:SF10	IQ motif containing GTPase activating protein 3				ENSP00000354451		13/38									COSM3747793	13/38	.		ENST00000361170	Transcript			small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	ENSG00000183856	g.chr1:156524129A>G	20669			MODERATE		2.61	medium	getma.org/?cm=msa&ty=f&p=IQGA3_HUMAN&rb=350&re=549&var=L449P	NA	getma.org/?cm=var&var=hg19,1,156524129,A,G&fts=all	L449P	--	--	1																																		IQGAP3_uc009wsb.1_Missense_Mutation_p.L406P	1	1		probably_damaging(0.999)	p.L449P	NM_178229	NP_839943		deleterious(0.02)	1	IQGA3_HUMAN	IQGAP3	HGNC	Q86VI3	IQGA3_HUMAN			F2Z2E2_HUMAN		13	1421	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		UPI000046FFDD	449					SNV	IQGAP3,missense_variant,p.Leu449Pro,ENST00000361170,NM_178229.4;IQGAP3,missense_variant,p.Leu406Pro,ENST00000491900,;	uc001fpf.2	c.1346T>C	1357/5988	3	3			c.1346T>C						1	SNP	c.(1345-1347)CTG>CCG	61	61			ovary(5)|skin(1)	6	Broad	IQ motif containing GTPase activating protein 3			156524129		0.622	ENSG00000183856	7680	g.chr1:156524129A>G	small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity							-20.774381	KEEP	4	0	-1	63	59	4	0	-1	6.357129	63	59	0.027273	1	0	0	0	0	1	0	0	0	--	--		0	G			IQGAP3_uc009wsb.1_Missense_Mutation_p.L406P	112	GBM-06-6698-TP	p.L449P	A	CCGGTTAATCAGGACCACAGC	NM_178229	NP_839943	156524129	Q86VI3	IQGA3_HUMAN	0			13	1421	-	G	G	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		Missense_Mutation	449						
IQGAP3	0	broad.mit.edu	GRCh37	1	156532968	156532968	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361170.2:c.756G>A	p.Leu252=	p.L252=	ENST00000361170	NM_178229.4	252	ctG/ctA	0			1			T	L	uc001fpf.2	protein_coding	YES	CCDS1144.1			756/4896									ovary(5)|skin(1)	6	c.(754-756)CTG>CTA			hmmpanther:PTHR14149,hmmpanther:PTHR14149:SF10	IQ motif containing GTPase activating protein 3				ENSP00000354451		Aug-38									COSM3399811	Aug-38	.		ENST00000361170	Transcript			small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	ENSG00000183856	g.chr1:156532968C>T	20669			LOW								--	--	1																																		IQGAP3_uc009wsb.1_Silent_p.L209L	1	1			p.L252L	NM_178229	NP_839943			1	IQGA3_HUMAN	IQGAP3	HGNC	Q86VI3	IQGA3_HUMAN			F2Z2E2_HUMAN		8	831	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		UPI000046FFDD	252					SNV	IQGAP3,synonymous_variant,p.=,ENST00000361170,NM_178229.4;IQGAP3,synonymous_variant,p.=,ENST00000491900,;	uc001fpf.2	c.756G>A	767/5988	2	2			c.756G>A						1	SNP	c.(754-756)CTG>CTA	30	30			ovary(5)|skin(1)	6	Broad	IQ motif containing GTPase activating protein 3			156532968		0.572	ENSG00000183856	7680	g.chr1:156532968C>T	small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity							285.129009	KEEP	62	65	-1	89	89	62	65	-1	287.599552	89	89	0.39777	1	0	0	0	0	0	0	1	0	--	--		0	T			IQGAP3_uc009wsb.1_Silent_p.L209L	129	GBM-12-5295-TP	p.L252L	C	TGGCCTGGGCCAGCATCTCTT	NM_178229	NP_839943	156532968	Q86VI3	IQGA3_HUMAN	0			8	831	-	T	T	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		Silent	252						
IQGAP3	0	broad.mit.edu	GRCh37	1	156501015	156501015	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-19-2619-01	TCGA-19-2619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361170.2:c.4128C>G	p.Ile1376Met	p.I1376M	ENST00000361170	NM_178229.4	1376	atC/atG	0			1			C	I/M	uc001fpf.2	protein_coding	YES	CCDS1144.1			4128/4896									ovary(5)|skin(1)	6	c.(4126-4128)ATC>ATG			hmmpanther:PTHR14149,hmmpanther:PTHR14149:SF10	IQ motif containing GTPase activating protein 3				ENSP00000354451		33/38									COSM3399809	33/38	.		ENST00000361170	Transcript			small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	ENSG00000183856	g.chr1:156501015G>C	20669			MODERATE		1.21	low	getma.org/?cm=msa&ty=f&p=IQGA3_HUMAN&rb=1222&re=1421&var=I1376M	NA	getma.org/?cm=var&var=hg19,1,156501015,G,C&fts=all	I1376M	--	--	1																																			1	1		benign(0.197)	p.I1376M	NM_178229	NP_839943		deleterious(0.02)	1	IQGA3_HUMAN	IQGAP3	HGNC	Q86VI3	IQGA3_HUMAN			F2Z2E2_HUMAN		33	4203	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		UPI000046FFDD	1376					SNV	IQGAP3,missense_variant,p.Ile1376Met,ENST00000361170,NM_178229.4;snoU13,downstream_gene_variant,,ENST00000458777,;IQGAP3,missense_variant,p.Ile1333Met,ENST00000491900,;	uc001fpf.2	c.4128C>G	4139/5988	3	3			c.4128C>G						1	SNP	c.(4126-4128)ATC>ATG	55	55			ovary(5)|skin(1)	6	Broad	IQ motif containing GTPase activating protein 3			156501015		0.587	ENSG00000183856	7680	g.chr1:156501015G>C	small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity							75.926076	KEEP	34	23	-1	233	254	34	23	-1	151.928889	233	254	0.105691	1	0	0	0	0	1	0	0	0	--	--		0	C				161	GBM-19-2619-TP	p.I1376M	G	GGAACTGTATGATATCGGCCA	NM_178229	NP_839943	156501015	Q86VI3	IQGA3_HUMAN	0			33	4203	-	C	C	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		Missense_Mutation	1376						
IQGAP3	0	broad.mit.edu	GRCh37	1	156518190	156518190	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-1970-01	TCGA-32-1970-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361170.2:c.2083C>G	p.Pro695Ala	p.P695A	ENST00000361170	NM_178229.4	695	Cct/Gct	0			1			C	P/A	uc001fpf.2	protein_coding	YES	CCDS1144.1			2083/4896									ovary(5)|skin(1)	6	c.(2083-2085)CCT>GCT			hmmpanther:PTHR14149,hmmpanther:PTHR14149:SF10	IQ motif containing GTPase activating protein 3				ENSP00000354451		18/38									COSM3399810	18/38	.		ENST00000361170	Transcript			small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	ENSG00000183856	g.chr1:156518190G>C	20669			MODERATE		2.74	medium	getma.org/?cm=msa&ty=f&p=IQGA3_HUMAN&rb=550&re=731&var=P695A	NA	getma.org/?cm=var&var=hg19,1,156518190,G,C&fts=all	P695A	--	--	1																																			1	1		probably_damaging(0.999)	p.P695A	NM_178229	NP_839943		deleterious(0.01)	1	IQGA3_HUMAN	IQGAP3	HGNC	Q86VI3	IQGA3_HUMAN			F2Z2E2_HUMAN		18	2158	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		UPI000046FFDD	695					SNV	IQGAP3,missense_variant,p.Pro695Ala,ENST00000361170,NM_178229.4;IQGAP3,missense_variant,p.Pro652Ala,ENST00000491900,;	uc001fpf.2	c.2083C>G	2094/5988	3	3			c.2083C>G						1	SNP	c.(2083-2085)CCT>GCT	56	56			ovary(5)|skin(1)	6	Broad	IQ motif containing GTPase activating protein 3			156518190		0.557	ENSG00000183856	7680	g.chr1:156518190G>C	small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity							-27.649553	KEEP	3	1	-1	70	75	3	1	-1	6.68767	70	75	0.022222	1	0	0	0	0	1	0	0	0	--	--		0	C				228	GBM-32-1970-TP	p.P695A	G	CAGCCAGGAGGTTGCTCCCAG	NM_178229	NP_839943	156518190	Q86VI3	IQGA3_HUMAN	0			18	2158	-	C	C	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		Missense_Mutation	695						
IQSEC1	0	broad.mit.edu	GRCh37	3	12977752	12977752	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01	TCGA-12-3652-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273221.4:c.806C>T	p.Pro269Leu	p.P269L	ENST00000273221	NM_014869.5	269	cCg/cTg	0			1			A	P/L	uc003bxt.2	protein_coding	YES	CCDS33703.1			806/2892									ovary(1)	1	c.(805-807)CCG>CTG			hmmpanther:PTHR10663:SF63,hmmpanther:PTHR10663	IQ motif and Sec7 domain 1 isoform b				ENSP00000273221		14-Mar	0.00014		0.00026			0.000167		0.000182	rs201771792,COSM3060617,COSM3060618	14-Mar	.		ENST00000273221	Transcript			regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	ENSG00000144711	g.chr3:12977752G>A	29112			MODERATE								--	--	1																																		IQSEC1_uc003bxu.3_Missense_Mutation_p.P147L|IQSEC1_uc011auw.1_Missense_Mutation_p.P255L	0,1,1	1		benign(0.047)	p.P269L	NM_014869	NP_055684		tolerated(0.27)	0,1,1	IQEC1_HUMAN	IQSEC1	HGNC	Q6DN90	IQEC1_HUMAN					3	815	-			UPI00003E1F36	269					SNV	IQSEC1,missense_variant,p.Pro269Leu,ENST00000273221,NM_014869.5;IQSEC1,missense_variant,p.Pro270Leu,ENST00000450726,;IQSEC1,missense_variant,p.Pro255Leu,ENST00000429247,NM_001134382.2;IQSEC1,downstream_gene_variant,,ENST00000473088,;	uc003bxt.2	c.806C>T	1023/5279	1	1			c.806C>T						3	SNP	c.(805-807)CCG>CTG	55	55			ovary(1)	1	Broad	IQ motif and Sec7 domain 1 isoform b			12977752		0.642	ENSG00000144711	7681	g.chr3:12977752G>A	regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity							197.657619	KEEP	39	25	-1	42	22	39	25	-1	197.749166	42	22	0.529915	1	0	0	0	0	1	0	0	0	--	--		0	A			IQSEC1_uc003bxu.3_Missense_Mutation_p.P147L|IQSEC1_uc011auw.1_Missense_Mutation_p.P255L	127	GBM-12-3652-TP	p.P269L	G	ATCCAGGGCCGGTGCCTCCTC	NM_014869	NP_055684	12977752	Q6DN90	IQEC1_HUMAN	0			3	815	-	A	A			Missense_Mutation	269						
IQSEC3	440073	broad.mit.edu	GRCh37	12	274924	274924	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0211-01	TCGA-06-0211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000538872.1:c.2839C>A	p.Pro947Thr	p.P947T	ENST00000538872		947	Ccg/Acg	0			1			A	P/T	uc001qhw.1	protein_coding	YES	CCDS53728.1			2839/3549								p.P644T(1)	central_nervous_system(2)|large_intestine(1)|skin(1)	4	c.(1930-1932)CCG>ACG			hmmpanther:PTHR10663:SF62,hmmpanther:PTHR10663,Gene3D:2.30.29.30,Superfamily_domains:SSF50729	IQ motif and Sec7 domain 3				ENSP00000437554		14-Nov									COSM42713,COSM2150772	14-Nov	.		ENST00000538872	Transcript			regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	ENSG00000120645	g.chr12:274924C>A	29193			MODERATE		1.91	medium	getma.org/?cm=msa&ty=f&p=IQEC3_HUMAN&rb=847&re=1039&var=P947T	getma.org/pdb.php?prot=IQEC3_HUMAN&from=847&to=1039&var=P947T	getma.org/?cm=var&var=hg19,12,274924,C,A&fts=all	P947T	--	--	1																																		IQSEC3_uc001qhu.1_Missense_Mutation_p.P644T	1,1	1		probably_damaging(0.981)	p.P644T	NM_015232	NP_056047		deleterious(0)	1,1	IQEC3_HUMAN	IQSEC3	HGNC	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)			8	1936	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		UPI0000DBEEF0	947			PH.		SNV	IQSEC3,missense_variant,p.Pro947Thr,ENST00000538872,;IQSEC3,missense_variant,p.Pro947Thr,ENST00000326261,NM_001170738.1;IQSEC3,missense_variant,p.Pro644Thr,ENST00000382841,NM_015232.1;RP11-598F7.6,downstream_gene_variant,,ENST00000537295,;RP11-598F7.6,downstream_gene_variant,,ENST00000537961,;RP11-598F7.5,non_coding_transcript_exon_variant,,ENST00000540136,;IQSEC3,upstream_gene_variant,,ENST00000537151,;IQSEC3,upstream_gene_variant,,ENST00000540907,;	uc001qhw.1	c.1930C>A	2957/7094	2	2			c.1930C>A						12	SNP	c.(1930-1932)CCG>ACG	21	21		p.P644T(1)	central_nervous_system(2)|large_intestine(1)|skin(1)	4	Broad	IQ motif and Sec7 domain 3			274924		0.607	ENSG00000120645	7683	g.chr12:274924C>A	regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity							95.625553	KEEP	14	25	0.641025641	21	36	14	25	0.641025641	96.293348	21	36	0.404762	1	0	0	0	0	1	0	0	0	--	--		0	A			IQSEC3_uc001qhu.1_Missense_Mutation_p.P644T	48	GBM-06-0211-TP	p.P644T	C	ACTGGTGACCCCGCTCTCGGG	NM_015232	NP_056047	274924	Q9UPP2	IQEC3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	8	1936	+	A	A	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		Missense_Mutation	947			PH.			
IQSEC3	0	broad.mit.edu	GRCh37	12	247990	247990	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-3650-01	TCGA-12-3650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000538872.1:c.1461C>T	p.Asp487=	p.D487=	ENST00000538872		487	gaC/gaT	0			1			T	D	uc001qhw.1	protein_coding	YES	CCDS53728.1			1461/3549									central_nervous_system(2)|large_intestine(1)|skin(1)	4	c.(550-552)GAC>GAT			hmmpanther:PTHR10663:SF62,hmmpanther:PTHR10663	IQ motif and Sec7 domain 3				ENSP00000437554		14-Apr									COSM2202368,COSM2202367	14-Apr	.		ENST00000538872	Transcript			regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	ENSG00000120645	g.chr12:247990C>T	29193			LOW								--	--	1																																		IQSEC3_uc001qhu.1_Silent_p.D184D|IQSEC3_uc001qht.1_Silent_p.D269D|uc001qhv.1_Intron	1,1	1			p.D184D	NM_015232	NP_056047			1,1	IQEC3_HUMAN	IQSEC3	HGNC	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)			1	558	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		UPI0000DBEEF0	487					SNV	IQSEC3,synonymous_variant,p.=,ENST00000538872,;IQSEC3,synonymous_variant,p.=,ENST00000326261,NM_001170738.1;IQSEC3,synonymous_variant,p.=,ENST00000382841,NM_015232.1;RP11-598F7.4,intron_variant,,ENST00000505893,;RP11-598F7.4,downstream_gene_variant,,ENST00000508953,;	uc001qhw.1	c.552C>T	1579/7094	1	1			c.552C>T						12	SNP	c.(550-552)GAC>GAT	16	16			central_nervous_system(2)|large_intestine(1)|skin(1)	4	Broad	IQ motif and Sec7 domain 3			247990		0.577	ENSG00000120645	7683	g.chr12:247990C>T	regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity							38.571133	KEEP	14	5	-1	9	6	14	5	-1	38.579282	9	6	0.481481	1	0	0	0	0	0	0	1	0	--	--		0	T			IQSEC3_uc001qhu.1_Silent_p.D184D|IQSEC3_uc001qht.1_Silent_p.D269D|uc001qhv.1_Intron	126	GBM-12-3650-TP	p.D184D	C	CTTTCCGGGACGTCACGGTGC	NM_015232	NP_056047	247990	Q9UPP2	IQEC3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	1	558	+	T	T	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		Silent	487						
IQSEC3	0	broad.mit.edu	GRCh37	12	248252	248254	+	inframe_deletion	In_Frame_Del	DEL	GAG	GAG	-			TCGA-27-1835-01	TCGA-27-1835-01	GAG	GAG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000538872.1:c.1735_1737delGAG	p.Glu579del	p.E579del	ENST00000538872		575	GAG/-	0	-:0.0059		1			-	E/-	uc001qhw.1	protein_coding	YES	CCDS53728.1			1723-1725/3549									central_nervous_system(2)|large_intestine(1)|skin(1)	4	c.(814-816)GAGdel			Low_complexity_(Seg):seg,hmmpanther:PTHR10663:SF62,hmmpanther:PTHR10663	IQ motif and Sec7 domain 3			-:0.0072	ENSP00000437554		14-Apr	9.62E-05		0.00407			0.00136		0.00141	rs782644363	14-Apr	common_variant		ENST00000538872	Transcript			regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	ENSG00000120645	g.chr12:248252_248254delGAG	29193	12		MODERATE								--	--	1																																		IQSEC3_uc001qhu.1_In_Frame_Del_p.E276del|IQSEC3_uc001qht.1_In_Frame_Del_p.E361del|uc001qhv.1_Intron		1			p.E276del	NM_015232	NP_056047				IQEC3_HUMAN	IQSEC3	HGNC	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)			1	820_822	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		UPI0000DBEEF0	579			Poly-Glu.		deletion	IQSEC3,inframe_deletion,p.Glu579del,ENST00000538872,;IQSEC3,inframe_deletion,p.Glu579del,ENST00000326261,NM_001170738.1;IQSEC3,inframe_deletion,p.Glu276del,ENST00000382841,NM_015232.1;RP11-598F7.4,intron_variant,,ENST00000505893,;RP11-598F7.4,downstream_gene_variant,,ENST00000508953,;	uc001qhw.1	c.814_816delGAG	1841-1843/7094	5	5			c.814_816delGAG						12	DEL	c.(814-816)GAGdel	18	18			central_nervous_system(2)|large_intestine(1)|skin(1)	4	Broad	IQ motif and Sec7 domain 3			248254		0.586	ENSG00000120645	7683	g.chr12:248252_248254delGAG	regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity																				0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			IQSEC3_uc001qhu.1_In_Frame_Del_p.E276del|IQSEC3_uc001qht.1_In_Frame_Del_p.E361del|uc001qhv.1_Intron	194	GBM-27-1835-TP	p.E276del	GAG	Agaggaggaagaggaggaggagg	NM_015232	NP_056047	248252	Q9UPP2	IQEC3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	1	820_822	+	-	-	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		In_Frame_Del	579			Poly-Glu.			
IQUB	0	broad.mit.edu	GRCh37	7	123152166	123152166	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-16-0861-01	TCGA-16-0861-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324698.6:c.229C>A	p.Gln77Lys	p.Q77K	ENST00000324698	NM_178827.4	77	Caa/Aaa	0	T:0.0002		1			T	Q/K	uc003vkn.2	protein_coding		CCDS5787.1			229/2376									ovary(3)|large_intestine(1)	4	c.(229-231)CAA>AAA			hmmpanther:PTHR21074,hmmpanther:PTHR21074:SF0	IQ motif and ubiquitin domain containing			T:0	ENSP00000324882		13-Feb									rs371332386,COSM3411535	13-Feb	.		ENST00000324698	Transcript						ENSG00000164675	g.chr7:123152166G>T	21995			MODERATE		0.145	neutral	getma.org/?cm=msa&ty=f&p=IQUB_HUMAN&rb=1&re=137&var=Q77K	NA	getma.org/?cm=var&var=hg19,7,123152166,G,T&fts=all	Q77K	--	--	1																																		IQUB_uc003vko.2_Missense_Mutation_p.Q77K|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Missense_Mutation_p.Q77K|IQUB_uc003vkq.2_Missense_Mutation_p.Q77K	0,1			benign(0.004)	p.Q77K	NM_178827	NP_849149		tolerated_low_confidence(0.6)	0,1	IQUB_HUMAN	IQUB	HGNC	Q8NA54	IQUB_HUMAN					2	806	-			UPI000013E3DF	77					SNV	IQUB,missense_variant,p.Gln77Lys,ENST00000466202,NM_001282855.1;IQUB,missense_variant,p.Gln77Lys,ENST00000324698,NM_178827.4;IQUB,missense_variant,p.Gln77Lys,ENST00000434450,;IQUB,intron_variant,,ENST00000488987,;IQUB,missense_variant,p.Gln77Lys,ENST00000484508,;IQUB,missense_variant,p.Gln77Lys,ENST00000469057,;IQUB,non_coding_transcript_exon_variant,,ENST00000483567,;	uc003vkn.2	c.229C>A	406/2891	2	2			c.229C>A						7	SNP	c.(229-231)CAA>AAA	46	46			ovary(3)|large_intestine(1)	4	Broad	IQ motif and ubiquitin domain containing			123152166		0.413	ENSG00000164675	7684	g.chr7:123152166G>T										361.941261	KEEP	80	46	0.634920635	102	87	80	46	0.634920635	364.022528	102	87	0.408451	1	0	0	0	0	1	0	0	0	--	--		0	T			IQUB_uc003vko.2_Missense_Mutation_p.Q77K|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Missense_Mutation_p.Q77K|IQUB_uc003vkq.2_Missense_Mutation_p.Q77K	156	GBM-16-0861-TP	p.Q77K	G	TCCATGAGTTGTTCATTGTCT	NM_178827	NP_849149	123152166	Q8NA54	IQUB_HUMAN	0			2	806	-	T	T			Missense_Mutation	77						
IRAK1	3654	broad.mit.edu	GRCh37	X	153278845	153278845	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369980.3:c.1579G>A	p.Gly527Arg	p.G527R	ENST00000369980	NM_001569.3	527	Ggg/Agg	0			1			T	G/R	uc004fjs.1	protein_coding	YES	CCDS14740.1			1579/2139									lung(5)|ovary(2)|breast(1)|central_nervous_system(1)	9	c.(1579-1581)GGG>AGG			hmmpanther:PTHR24419,hmmpanther:PTHR24419:SF1	interleukin-1 receptor-associated kinase 1				ENSP00000358997		14-Dec									COSM3406133,COSM3406132	14-Dec	.		ENST00000369980	Transcript	1		activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity	ENSG00000184216	g.chrX:153278845C>T	6112			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=IRAK1_HUMAN&rb=519&re=712&var=G527R	NA	getma.org/?cm=var&var=hg19,X,153278845,C,T&fts=all	G527R	--	--	1																																		IRAK1_uc004fjr.1_Intron|IRAK1_uc004fjt.1_Missense_Mutation_p.G448R|IRAK1_uc010nur.2_Intron	1,1	1		possibly_damaging(0.55)	p.G527R	NM_001569	NP_001560		tolerated(0.22)	1,1	IRAK1_HUMAN	IRAK1	HGNC	P51617	IRAK1_HUMAN					12	1658	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		UPI000012D873	527					SNV	IRAK1,missense_variant,p.Gly527Arg,ENST00000369980,NM_001569.3,NM_001025242.1;IRAK1,missense_variant,p.Gly448Arg,ENST00000369974,NM_001025243.1;IRAK1,missense_variant,p.Gly276Arg,ENST00000443220,;IRAK1,missense_variant,p.Gly83Arg,ENST00000444254,;IRAK1,intron_variant,,ENST00000393682,;IRAK1,intron_variant,,ENST00000429936,;IRAK1,intron_variant,,ENST00000393687,;IRAK1,intron_variant,,ENST00000444230,;IRAK1,intron_variant,,ENST00000437278,;IRAK1,intron_variant,,ENST00000455690,;IRAK1,non_coding_transcript_exon_variant,,ENST00000467236,;IRAK1,intron_variant,,ENST00000477274,;IRAK1,3_prime_UTR_variant,,ENST00000369973,;IRAK1,downstream_gene_variant,,ENST00000463031,;	uc004fjs.1	c.1579G>A	1747/3666	2	2			c.1579G>A						23	SNP	c.(1579-1581)GGG>AGG	31	31			lung(5)|ovary(2)|breast(1)|central_nervous_system(1)	9	Broad	interleukin-1 receptor-associated kinase 1			153278845		0.667	ENSG00000184216	7685	g.chrX:153278845C>T	activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			83			83	31.792368	KEEP	10	9	-1	32	30	10	9	-1	35.742258	32	30	0.238095	1	0	0	0	0	1	0	0	0	--	--		0	T			IRAK1_uc004fjr.1_Intron|IRAK1_uc004fjt.1_Missense_Mutation_p.G448R|IRAK1_uc010nur.2_Intron	62	GBM-06-0649-TP	p.G527R	C	CCGGGCACCCCCGCCACCACT	NM_001569	NP_001560	153278845	P51617	IRAK1_HUMAN	0			12	1658	-	T	T	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	527						
IRAK1	3654		GRCh37	X	153283486	153283486	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000369980.3:c.880G>A	p.Gly294Ser	p.G294S	ENST00000369980	NM_001569.3	294	Ggc/Agc	0																																																																																																																																																																																																																																												
IRAK3	11213	broad.mit.edu	GRCh37	12	66638935	66638935	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-02-2483-01	TCGA-02-2483-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261233.4:c.1207C>A	p.Leu403Ile	p.L403I	ENST00000261233	NM_007199.2	403	Cta/Ata	0			1			A	L/I	uc001sth.2	protein_coding	YES	CCDS8975.1			1207/1791									lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8	c.(1207-1209)CTA>ATA			Superfamily_domains:SSF56112,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24419,hmmpanther:PTHR24419:SF7,PROSITE_profiles:PS50011	interleukin-1 receptor-associated kinase 3				ENSP00000261233		12-Nov									COSM942627	12-Nov	.		ENST00000261233	Transcript	1		interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	ENSG00000090376	g.chr12:66638935C>A	17020			MODERATE		1.525	low	getma.org/?cm=msa&ty=f&p=IRAK3_HUMAN&rb=165&re=443&var=L403I	getma.org/pdb.php?prot=IRAK3_HUMAN&from=165&to=443&var=L403I	getma.org/?cm=var&var=hg19,12,66638935,C,A&fts=all	L403I	--	--	1																																		IRAK3_uc010ssy.1_Missense_Mutation_p.L342I	1	1		possibly_damaging(0.873)	p.L403I	NM_007199	NP_009130		deleterious(0.01)	1	IRAK3_HUMAN	IRAK3	HGNC	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)			11	1309	+			UPI000013D14A	403			Protein kinase.		SNV	IRAK3,missense_variant,p.Leu403Ile,ENST00000261233,NM_007199.2;IRAK3,missense_variant,p.Leu342Ile,ENST00000457197,NM_001142523.1;	uc001sth.2	c.1207C>A	1628/8663	1	1			c.1207C>A						12	SNP	c.(1207-1209)CTA>ATA	51	51			lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8	Broad	interleukin-1 receptor-associated kinase 3			66638935		0.478	ENSG00000090376	7688	g.chr12:66638935C>A	interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			206			206	-27.638717	KEEP	6	3	0.333333333	78	97	6	3	0.333333333	12.57417	78	97	0.039773	1	0	0	0	0	1	0	0	0	--	--		0	A			IRAK3_uc010ssy.1_Missense_Mutation_p.L342I	6	GBM-02-2483-TP	p.L403I	C	TCTCTCATTTCTAGATAAGAA	NM_007199	NP_009130	66638935	Q9Y616	IRAK3_HUMAN	0		GBM - Glioblastoma multiforme(28;0.0203)	11	1309	+	A	A			Missense_Mutation	403			Protein kinase.			
IRAK3	11213	broad.mit.edu	GRCh37	12	66597538	66597538	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-2570-01	TCGA-06-2570-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261233.4:c.181T>C	p.Tyr61His	p.Y61H	ENST00000261233	NM_007199.2	61	Tat/Cat	0			1			C	Y/H	uc001sth.2	protein_coding	YES	CCDS8975.1			181/1791									lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8	c.(181-183)TAT>CAT			Superfamily_domains:SSF47986,SMART_domains:SM00005,Pfam_domain:PF00531,Gene3D:1.10.533.10,hmmpanther:PTHR24419,hmmpanther:PTHR24419:SF7,PROSITE_profiles:PS50017	interleukin-1 receptor-associated kinase 3				ENSP00000261233		12-Feb									COSM2153133	12-Feb	.		ENST00000261233	Transcript	1		interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	ENSG00000090376	g.chr12:66597538T>C	17020			MODERATE		1.78	low	getma.org/?cm=msa&ty=f&p=IRAK3_HUMAN&rb=26&re=106&var=Y61H	getma.org/pdb.php?prot=IRAK3_HUMAN&from=26&to=106&var=Y61H	getma.org/?cm=var&var=hg19,12,66597538,T,C&fts=all	Y61H	--	--	1																																		IRAK3_uc010ssy.1_Intron	1	1		benign(0.134)	p.Y61H	NM_007199	NP_009130		tolerated(0.19)	1	IRAK3_HUMAN	IRAK3	HGNC	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)			2	283	+			UPI000013D14A	61			Death.		SNV	IRAK3,missense_variant,p.Tyr61His,ENST00000261233,NM_007199.2;IRAK3,intron_variant,,ENST00000457197,NM_001142523.1;	uc001sth.2	c.181T>C	602/8663	3	3			c.181T>C						12	SNP	c.(181-183)TAT>CAT	60	60			lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8	Broad	interleukin-1 receptor-associated kinase 3			66597538		0.398	ENSG00000090376	7688	g.chr12:66597538T>C	interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			206			206	233.763702	KEEP	46	21	-1	34	28	46	21	-1	233.830621	34	28	0.525424	1	0	0	0	0	1	0	0	0	--	--		0	C			IRAK3_uc010ssy.1_Intron	91	GBM-06-2570-TP	p.Y61H	T	TATTGAAAAGTATGTAGACCA	NM_007199	NP_009130	66597538	Q9Y616	IRAK3_HUMAN	0		GBM - Glioblastoma multiforme(28;0.0203)	2	283	+	C	C			Missense_Mutation	61			Death.			
IRAK3	0	broad.mit.edu	GRCh37	12	66597512	66597512	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1830-01	TCGA-27-1830-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261233.4:c.155G>A	p.Trp52Ter	p.W52*	ENST00000261233	NM_007199.2	52	tGg/tAg	0			1			A	W/*	uc001sth.2	protein_coding	YES	CCDS8975.1			155/1791									lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8	c.(154-156)TGG>TAG			Superfamily_domains:SSF47986,SMART_domains:SM00005,Pfam_domain:PF00531,Gene3D:1.10.533.10,hmmpanther:PTHR24419,hmmpanther:PTHR24419:SF7,PROSITE_profiles:PS50017	interleukin-1 receptor-associated kinase 3				ENSP00000261233		12-Feb									COSM3398997	12-Feb	.		ENST00000261233	Transcript	1		interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	ENSG00000090376	g.chr12:66597512G>A	17020			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,12,66597512,G,A&fts=all	W52*	--	--	1																																		IRAK3_uc010ssy.1_Intron	1	1			p.W52*	NM_007199	NP_009130			1	IRAK3_HUMAN	IRAK3	HGNC	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)			2	257	+			UPI000013D14A	52			Death.		SNV	IRAK3,stop_gained,p.Trp52Ter,ENST00000261233,NM_007199.2;IRAK3,intron_variant,,ENST00000457197,NM_001142523.1;	uc001sth.2	c.155G>A	576/8663	5	1			c.155G>A						12	SNP	c.(154-156)TGG>TAG	49	49			lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8	Broad	interleukin-1 receptor-associated kinase 3			66597512		0.363	ENSG00000090376	7688	g.chr12:66597512G>A	interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			206			206	112.71875	KEEP	22	22	-1	44	31	22	22	-1	114.377715	44	31	0.365385	1	0	0	0	0	0	1	0	0	--	--		0	A			IRAK3_uc010ssy.1_Intron	189	GBM-27-1830-TP	p.W52*	G	TCAAGCAGCTGGCTGGATGTT	NM_007199	NP_009130	66597512	Q9Y616	IRAK3_HUMAN	0		GBM - Glioblastoma multiforme(28;0.0203)	2	257	+	A	A			Nonsense_Mutation	52			Death.			
IRF1	3659		GRCh37	5	131821402	131821402	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000245414.4:c.674C>T	p.Thr225Ile	p.T225I	ENST00000245414	NM_002198.2	225	aCa/aTa	0																																																																																																																																																																																																																																												
IRF2	3660	broad.mit.edu	GRCh37	4	185329382	185329382	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0145-01	TCGA-06-0145-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393593.3:c.459T>C	p.Asp153=	p.D153=	ENST00000393593	NM_002199.3	153	gaT/gaC	0			1			G	D	uc003iwf.3	protein_coding	YES	CCDS3835.1			459/1050									ovary(1)	1	c.(457-459)GAT>GAC			PIRSF_domain:PIRSF038196,hmmpanther:PTHR11949,hmmpanther:PTHR11949:SF22	interferon regulatory factor 2				ENSP00000377218		9-Jun	8.24E-06			0.000116					rs767335959	9-Jun	.		ENST00000393593	Transcript			blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	ENSG00000168310	g.chr4:185329382A>G	6117			LOW								--	--	1																																				1			p.D153D	NM_002199	NP_002190				IRF2_HUMAN	IRF2	HGNC	P14316	IRF2_HUMAN		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)	K4DIA5_HUMAN,D6RB08_HUMAN,D6R9N5_HUMAN		6	659	-		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)	UPI000012D888	153					SNV	IRF2,synonymous_variant,p.=,ENST00000393593,NM_002199.3;IRF2,synonymous_variant,p.=,ENST00000507523,;IRF2,synonymous_variant,p.=,ENST00000505067,;IRF2,synonymous_variant,p.=,ENST00000510814,;IRF2,intron_variant,,ENST00000502750,;IRF2,non_coding_transcript_exon_variant,,ENST00000512020,;	uc003iwf.3	c.459T>C	667/2303	3	3			c.459T>C						4	SNP	c.(457-459)GAT>GAC	10	10			ovary(1)	1	Broad	interferon regulatory factor 2			185329382		0.388	ENSG00000168310	7692	g.chr4:185329382A>G	blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity							1.514188	KEEP	4	5	-1	48	59	4	5	-1	21.105605	48	59	0.075472	1	0	0	0	0	0	0	1	0	--	--		0	G				23	GBM-06-0145-TP	p.D153D	A	CAGGAGAAAGATCACTTACTC	NM_002199	NP_002190	185329382	P14316	IRF2_HUMAN	0		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)	6	659	-	G	G		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)	Silent	153						
IRF2	0	broad.mit.edu	GRCh37	4	185310216	185310216	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01	TCGA-14-2554-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393593.3:c.746G>A	p.Arg249Gln	p.R249Q	ENST00000393593	NM_002199.3	249	cGg/cAg	0			1			T	R/Q	uc003iwf.3	protein_coding	YES	CCDS3835.1			746/1050									ovary(1)	1	c.(745-747)CGG>CAG			PIRSF_domain:PIRSF038196,hmmpanther:PTHR11949,hmmpanther:PTHR11949:SF22	interferon regulatory factor 2				ENSP00000377218		9-Sep	1.65E-05		0.000173						rs754089440,COSM3409192	9-Sep	.		ENST00000393593	Transcript			blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	ENSG00000168310	g.chr4:185310216C>T	6117			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=IRF2_HUMAN&rb=115&re=314&var=R249Q	NA	getma.org/?cm=var&var=hg19,4,185310216,C,T&fts=all	R249Q	--	--	1																																			0,1	1		benign(0.005)	p.R249Q	NM_002199	NP_002190		tolerated(0.72)	0,1	IRF2_HUMAN	IRF2	HGNC	P14316	IRF2_HUMAN		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)	K4DIA5_HUMAN,D6RB08_HUMAN,D6R9N5_HUMAN		9	946	-		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)	UPI000012D888	249					SNV	IRF2,missense_variant,p.Arg249Gln,ENST00000393593,NM_002199.3;IRF2,missense_variant,p.Arg183Gln,ENST00000505067,;IRF2,missense_variant,p.Arg106Gln,ENST00000502750,;	uc003iwf.3	c.746G>A	954/2303	2	2			c.746G>A						4	SNP	c.(745-747)CGG>CAG	42	42			ovary(1)	1	Broad	interferon regulatory factor 2			185310216		0.418	ENSG00000168310	7692	g.chr4:185310216C>T	blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity							261.326805	KEEP	44	49	-1	52	77	44	49	-1	261.426127	52	77	0.474286	1	0	0	0	0	1	0	0	0	--	--		0	T				150	GBM-14-2554-TP	p.R249Q	C	CCAGTGTGGCCGCCCCTTTCA	NM_002199	NP_002190	185310216	P14316	IRF2_HUMAN	0		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)	9	946	-	T	T		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)	Missense_Mutation	249						
IRF4	0	broad.mit.edu	GRCh37	6	397159	397159	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0688-01	TCGA-12-0688-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380956.4:c.544G>A	p.Val182Ile	p.V182I	ENST00000380956	NM_001195286.1	182	Gtc/Atc	0			1			A	V/I	uc003msz.3	protein_coding	YES	CCDS4469.1			544/1356	T		IGH@		MM				ovary(1)	1	c.(544-546)GTC>ATC			hmmpanther:PTHR11949,hmmpanther:PTHR11949:SF6	interferon regulatory factor 4				ENSP00000370343		9-May	8.24E-06					1.50E-05			rs781586995,COSM2153954	9-May	.		ENST00000380956	Transcript	1		interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	ENSG00000137265	g.chr6:397159G>A	6119			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=IRF4_HUMAN&rb=131&re=248&var=V182I	NA	getma.org/?cm=var&var=hg19,6,397159,G,A&fts=all	V182I	--	--	1																																		IRF4_uc010jne.1_Missense_Mutation_p.V182I|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.V181I|IRF4_uc003mtc.1_Missense_Mutation_p.V12I	0,1	1		benign(0.018)	p.V182I	NM_002460	NP_002451		tolerated(0.36)	0,1	IRF4_HUMAN	IRF4	HGNC	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)			5	657	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	UPI000012D88B	182					SNV	IRF4,missense_variant,p.Val182Ile,ENST00000380956,NM_001195286.1,NM_002460.3;IRF4,non_coding_transcript_exon_variant,,ENST00000495137,;IRF4,downstream_gene_variant,,ENST00000468485,;IRF4,downstream_gene_variant,,ENST00000469834,;IRF4,missense_variant,p.Val182Ile,ENST00000493114,;	uc003msz.3	c.544G>A	670/5331	1	1			c.544G>A	T		IGH@		MM	6	SNP	c.(544-546)GTC>ATC	59	59			ovary(1)	1	Broad	interferon regulatory factor 4			397159		0.567	ENSG00000137265	7696	g.chr6:397159G>A	interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			223			223	222.640296	KEEP	46	40	-1	63	72	46	40	-1	224.128573	63	72	0.405263	1	0	0	0	0	1	0	0	0	--	--		0	A			IRF4_uc010jne.1_Missense_Mutation_p.V182I|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.V181I|IRF4_uc003mtc.1_Missense_Mutation_p.V12I	121	GBM-12-0688-TP	p.V182I	G	GAGGGACTACGTCCCGGATCA	NM_002460	NP_002451	397159	Q15306	IRF4_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	5	657	+	A	A		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	Missense_Mutation	182						
IRF4	0	broad.mit.edu	GRCh37	6	398917	398917	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01	TCGA-32-4211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380956.4:c.727G>A	p.Glu243Lys	p.E243K	ENST00000380956	NM_001195286.1	243	Gaa/Aaa	0			1			A	E/K	uc003msz.3	protein_coding	YES	CCDS4469.1			727/1356	T		IGH@		MM				ovary(1)	1	c.(727-729)GAA>AAA			hmmpanther:PTHR11949,hmmpanther:PTHR11949:SF6,Gene3D:2.60.200.10	interferon regulatory factor 4				ENSP00000370343		9-Jun									COSM1079069	9-Jun	.		ENST00000380956	Transcript	1		interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	ENSG00000137265	g.chr6:398917G>A	6119			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=IRF4_HUMAN&rb=131&re=248&var=E243K	NA	getma.org/?cm=var&var=hg19,6,398917,G,A&fts=all	E243K	--	--	1																																		IRF4_uc010jne.1_Missense_Mutation_p.E243K|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.E242K|IRF4_uc003mtc.1_Missense_Mutation_p.E73K	1	1		benign(0.439)	p.E243K	NM_002460	NP_002451		deleterious(0.04)	1	IRF4_HUMAN	IRF4	HGNC	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)			6	840	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	UPI000012D88B	243					SNV	IRF4,missense_variant,p.Glu243Lys,ENST00000380956,NM_001195286.1,NM_002460.3;IRF4,downstream_gene_variant,,ENST00000495137,;IRF4,downstream_gene_variant,,ENST00000468485,;IRF4,downstream_gene_variant,,ENST00000469834,;IRF4,missense_variant,p.Glu243Lys,ENST00000493114,;	uc003msz.3	c.727G>A	853/5331	2	2			c.727G>A	T		IGH@		MM	6	SNP	c.(727-729)GAA>AAA	46	46			ovary(1)	1	Broad	interferon regulatory factor 4			398917		0.592	ENSG00000137265	7696	g.chr6:398917G>A	interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			223			223	25.630183	KEEP	7	4	-1	14	19	7	4	-1	27.729479	14	19	0.25641	1	0	0	0	0	1	0	0	0	--	--		0	A			IRF4_uc010jne.1_Missense_Mutation_p.E243K|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.E242K|IRF4_uc003mtc.1_Missense_Mutation_p.E73K	246	GBM-32-4211-TP	p.E243K	G	AAGGTCTGCCGAAGCCTTGGC	NM_002460	NP_002451	398917	Q15306	IRF4_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	6	840	+	A	A		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	Missense_Mutation	243						
IRF4	3662		GRCh37	6	398928	398928	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000380956.4:c.738G>A	p.Ala246=	p.A246=	ENST00000380956	NM_001195286.1	246	gcG/gcA	0																																																																																																																																																																																																																																												
IRF5	0	broad.mit.edu	GRCh37	7	128585975	128585975	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5950-01	TCGA-19-5950-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000249375.4:c.272G>A	p.Arg91His	p.R91H	ENST00000249375	NM_032643.3	91	cGc/cAc	0			1			A	R/H	uc003vog.2	protein_coding		CCDS5808.1			272/1497										0	c.(271-273)CGC>CAC			PROSITE_profiles:PS51507,hmmpanther:PTHR11949,hmmpanther:PTHR11949:SF10,Gene3D:1.10.10.10,Pfam_domain:PF00605,SMART_domains:SM00348,Superfamily_domains:SSF46785,Prints_domain:PR00267	interferon regulatory factor 5 isoform a				ENSP00000249375		9-Mar									COSM2156568	9-Mar	.		ENST00000249375	Transcript	1		interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000128604	g.chr7:128585975G>A	6120			MODERATE		3.625	high	getma.org/?cm=msa&ty=f&p=IRF5_HUMAN&rb=14&re=123&var=R91H	getma.org/pdb.php?prot=IRF5_HUMAN&from=14&to=123&var=R91H	getma.org/?cm=var&var=hg19,7,128585975,G,A&fts=all	R91H	--	--	1																																		IRF5_uc010llr.1_Missense_Mutation_p.R91H|IRF5_uc011kot.1_Missense_Mutation_p.R91H|IRF5_uc011kou.1_Missense_Mutation_p.R91H|IRF5_uc010lls.1_Missense_Mutation_p.R91H|IRF5_uc003voh.2_Missense_Mutation_p.R91H|IRF5_uc010llt.2_Missense_Mutation_p.R91H|IRF5_uc003voi.2_Missense_Mutation_p.R91H|IRF5_uc010llu.1_Missense_Mutation_p.R91H|IRF5_uc003vok.2_Missense_Mutation_p.R91H|IRF5_uc003voj.3_Missense_Mutation_p.R91H|IRF5_uc010llv.1_Missense_Mutation_p.R91H|IRF5_uc010llw.1_Missense_Mutation_p.R91H	1			probably_damaging(0.999)	p.R91H	NM_002200	NP_002191		deleterious(0)	1	IRF5_HUMAN	IRF5	HGNC	Q13568	IRF5_HUMAN			Q64GB0_HUMAN,I6ZU14_HUMAN,C9JYP7_HUMAN,C9JB67_HUMAN,C9J7M2_HUMAN		3	393	+			UPI000012D88C	91			IRF tryptophan pentad repeat.		SNV	IRF5,missense_variant,p.Arg91His,ENST00000402030,NM_001098630.1,NM_001098629.1;IRF5,missense_variant,p.Arg91His,ENST00000249375,NM_032643.3;IRF5,missense_variant,p.Arg91His,ENST00000473745,NM_001098627.2;IRF5,missense_variant,p.Arg91His,ENST00000357234,;IRF5,missense_variant,p.Arg91His,ENST00000477535,NM_001242452.1;IRF5,missense_variant,p.Arg91His,ENST00000489702,;IRF5,missense_variant,p.Arg91His,ENST00000479582,;IRF5,missense_variant,p.Arg91His,ENST00000464557,;IRF5,downstream_gene_variant,,ENST00000467002,;IRF5,missense_variant,p.Arg91His,ENST00000465603,;IRF5,3_prime_UTR_variant,,ENST00000473787,;IRF5,non_coding_transcript_exon_variant,,ENST00000461416,;IRF5,non_coding_transcript_exon_variant,,ENST00000488569,;	uc003vog.2	c.272G>A	312/2749	2	2			c.272G>A						7	SNP	c.(271-273)CGC>CAC	48	48				0	Broad	interferon regulatory factor 5 isoform a			128585975		0.612	ENSG00000128604	7697	g.chr7:128585975G>A	interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity							79.234045	KEEP	15	17	-1	20	46	15	17	-1	81.506276	20	46	0.329545	1	0	0	0	0	1	0	0	0	--	--		0	A			IRF5_uc010llr.1_Missense_Mutation_p.R91H|IRF5_uc011kot.1_Missense_Mutation_p.R91H|IRF5_uc011kou.1_Missense_Mutation_p.R91H|IRF5_uc010lls.1_Missense_Mutation_p.R91H|IRF5_uc003voh.2_Missense_Mutation_p.R91H|IRF5_uc010llt.2_Missense_Mutation_p.R91H|IRF5_uc003voi.2_Missense_Mutation_p.R91H|IRF5_uc010llu.1_Missense_Mutation_p.R91H|IRF5_uc003vok.2_Missense_Mutation_p.R91H|IRF5_uc003voj.3_Missense_Mutation_p.R91H|IRF5_uc010llv.1_Missense_Mutation_p.R91H|IRF5_uc010llw.1_Missense_Mutation_p.R91H	170	GBM-19-5950-TP	p.R91H	G	GCCAACCTGCGCTGTGCCCTT	NM_002200	NP_002191	128585975	Q13568	IRF5_HUMAN	0			3	393	+	A	A			Missense_Mutation	91			IRF tryptophan pentad repeat.			
IRF6	0	broad.mit.edu	GRCh37	1	209961847	209961847	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5215-01	TCGA-28-5215-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367021.3:c.1322G>A	p.Arg441His	p.R441H	ENST00000367021	NM_006147.3	441	cGc/cAc	0			1			T	R/H	uc001hhq.1	protein_coding	YES	CCDS1492.1			1322/1404									ovary(2)	2	c.(1321-1323)CGC>CAC			hmmpanther:PTHR11949,hmmpanther:PTHR11949:SF9,Gene3D:2.60.200.10,Superfamily_domains:SSF49879	interferon regulatory factor 6				ENSP00000355988		9-Sep	8.24E-06					1.50E-05			rs750021967,COSM3400271	9-Sep	.		ENST00000367021	Transcript	1		cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	ENSG00000117595	g.chr1:209961847C>T	6121			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=IRF6_HUMAN&rb=408&re=467&var=R441H	getma.org/pdb.php?prot=IRF6_HUMAN&from=408&to=467&var=R441H	getma.org/?cm=var&var=hg19,1,209961847,C,T&fts=all	R441H	--	--	1				HNSCC(57;0.16)																														IRF6_uc010psm.1_Missense_Mutation_p.R346H|IRF6_uc009xct.1_Missense_Mutation_p.R441H	0,1	1		benign(0.121)	p.R441H	NM_006147	NP_006138		tolerated(0.4)	0,1	IRF6_HUMAN	IRF6	HGNC	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	G0Z349_HUMAN,B1AJU4_HUMAN		9	1585	-			UPI000012D88D	441					SNV	IRF6,missense_variant,p.Arg441His,ENST00000367021,NM_006147.3;IRF6,missense_variant,p.Arg346His,ENST00000542854,NM_001206696.1;C1orf74,upstream_gene_variant,,ENST00000294811,NM_152485.2;IRF6,downstream_gene_variant,,ENST00000456314,;RP3-434O14.8,upstream_gene_variant,,ENST00000430751,;IRF6,downstream_gene_variant,,ENST00000464698,;	uc001hhq.1	c.1322G>A	1495/4306	1	1			c.1322G>A						1	SNP	c.(1321-1323)CGC>CAC	8	8			ovary(2)	2	Broad	interferon regulatory factor 6			209961847		0.557	ENSG00000117595	7698	g.chr1:209961847C>T	cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity							-6.014369	KEEP	12	7	-1	102	81	12	7	-1	25.249382	102	81	0.08427	1	0	0	0	0	1	0	0	0	--	--	HNSCC(57;0.16)	0	T			IRF6_uc010psm.1_Missense_Mutation_p.R346H|IRF6_uc009xct.1_Missense_Mutation_p.R441H	222	GBM-28-5215-TP	p.R441H	C	TTGAAGGATGCGGTACAGCTG	NM_006147	NP_006138	209961847	O14896	IRF6_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	9	1585	-	T	T			Missense_Mutation	441						
IRF6	0	broad.mit.edu	GRCh37	1	209963984	209963984	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01	TCGA-41-3392-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367021.3:c.916G>A	p.Val306Ile	p.V306I	ENST00000367021	NM_006147.3	306	Gtc/Atc	0			1			T	V/I	uc001hhq.1	protein_coding	YES	CCDS1492.1			916/1404									ovary(2)	2	c.(916-918)GTC>ATC			hmmpanther:PTHR11949,hmmpanther:PTHR11949:SF9,Gene3D:2.60.200.10,Pfam_domain:PF10401,Superfamily_domains:SSF49879	interferon regulatory factor 6				ENSP00000355988		9-Jul									COSM3400272	9-Jul	.		ENST00000367021	Transcript	1		cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	ENSG00000117595	g.chr1:209963984C>T	6121			MODERATE		1.65	low	getma.org/?cm=msa&ty=f&p=IRF6_HUMAN&rb=223&re=407&var=V306I	getma.org/pdb.php?prot=IRF6_HUMAN&from=223&to=407&var=V306I	getma.org/?cm=var&var=hg19,1,209963984,C,T&fts=all	V306I	--	--	1				HNSCC(57;0.16)																														IRF6_uc010psm.1_Missense_Mutation_p.V211I|IRF6_uc009xct.1_Missense_Mutation_p.V306I	1	1		benign(0.062)	p.V306I	NM_006147	NP_006138		tolerated(0.69)	1	IRF6_HUMAN	IRF6	HGNC	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	G0Z349_HUMAN,B1AJU4_HUMAN		7	1179	-			UPI000012D88D	306					SNV	IRF6,missense_variant,p.Val306Ile,ENST00000367021,NM_006147.3;IRF6,missense_variant,p.Val211Ile,ENST00000542854,NM_001206696.1;IRF6,downstream_gene_variant,,ENST00000456314,;RP3-434O14.8,upstream_gene_variant,,ENST00000430751,;IRF6,downstream_gene_variant,,ENST00000464698,;	uc001hhq.1	c.916G>A	1089/4306	2	2			c.916G>A						1	SNP	c.(916-918)GTC>ATC	29	29			ovary(2)	2	Broad	interferon regulatory factor 6			209963984		0.532	ENSG00000117595	7698	g.chr1:209963984C>T	cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity							126.275623	KEEP	20	25	-1	28	37	20	25	-1	126.943971	28	37	0.415094	1	0	0	0	0	1	0	0	0	--	--	HNSCC(57;0.16)	0	T			IRF6_uc010psm.1_Missense_Mutation_p.V211I|IRF6_uc009xct.1_Missense_Mutation_p.V306I	254	GBM-41-3392-TP	p.V306I	C	TGACCGCTGACCTCCAGGATC	NM_006147	NP_006138	209963984	O14896	IRF6_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	7	1179	-	T	T			Missense_Mutation	306						
IRF8	3394	broad.mit.edu	GRCh37	16	85952286	85952286	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0650-01	TCGA-06-0650-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268638.5:c.865G>A	p.Val289Ile	p.V289I	ENST00000268638	NM_002163.2	289	Gtc/Atc	0			1			A	V/I	uc002fjh.2	protein_coding	YES	CCDS10956.1			865/1281									breast(2)|ovary(1)	3	c.(865-867)GTC>ATC			hmmpanther:PTHR11949:SF7,hmmpanther:PTHR11949,Gene3D:2.60.200.10,Pfam_domain:PF10401,Superfamily_domains:SSF49879	interferon regulatory factor 8				ENSP00000268638		9-Jul	7.42E-05		0.000263	0.000472		3.16E-05			rs202107230,COSM3402529	9-Jul	common_variant		ENST00000268638	Transcript	1		interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	ENSG00000140968	g.chr16:85952286G>A	5358			MODERATE		-0.13	neutral	getma.org/?cm=msa&ty=f&p=IRF8_HUMAN&rb=202&re=382&var=V289I	getma.org/pdb.php?prot=IRF8_HUMAN&from=202&to=382&var=V289I	getma.org/?cm=var&var=hg19,16,85952286,G,A&fts=all	V289I	--	--	1																																		IRF8_uc010chp.2_Intron	0,1	1		possibly_damaging(0.47)	p.V289I	NM_002163	NP_002154		tolerated(0.7)	0,1	IRF8_HUMAN	IRF8	HGNC	Q02556	IRF8_HUMAN			H3BT31_HUMAN,H3BRT4_HUMAN,H3BQK3_HUMAN,H3BQH6_HUMAN,H3BPS5_HUMAN		7	922	+		Prostate(104;0.0771)	UPI000012D188	289					SNV	IRF8,missense_variant,p.Val289Ile,ENST00000268638,NM_002163.2;IRF8,missense_variant,p.Val289Ile,ENST00000564803,;IRF8,missense_variant,p.Val85Ile,ENST00000562492,;IRF8,missense_variant,p.Val85Ile,ENST00000569607,;IRF8,intron_variant,,ENST00000566369,;IRF8,downstream_gene_variant,,ENST00000569145,;	uc002fjh.2	c.865G>A	1287/3030	1	1			c.865G>A						16	SNP	c.(865-867)GTC>ATC	59	59			breast(2)|ovary(1)	3	Broad	interferon regulatory factor 8			85952286		0.677	ENSG00000140968	7700	g.chr16:85952286G>A	interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity							-1.608804	KEEP	1	2	-1	18	26	1	2	-1	6.608613	18	26	0.069767	1	0	0	0	0	1	0	0	0	--	--		0	A			IRF8_uc010chp.2_Intron	63	GBM-06-0650-TP	p.V289I	G	GGGCGTGTTCGTCAAGCGGCT	NM_002163	NP_002154	85952286	Q02556	IRF8_HUMAN	0			7	922	+	A	A		Prostate(104;0.0771)	Missense_Mutation	289						
IRF8	0	broad.mit.edu	GRCh37	16	85952071	85952071	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01	TCGA-76-4926-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268638.5:c.650G>A	p.Gly217Asp	p.G217D	ENST00000268638	NM_002163.2	217	gGc/gAc	0			1			A	G/D	uc002fjh.2	protein_coding	YES	CCDS10956.1			650/1281									breast(2)|ovary(1)	3	c.(649-651)GGC>GAC			hmmpanther:PTHR11949:SF7,hmmpanther:PTHR11949,Gene3D:2.60.200.10,Pfam_domain:PF10401,Superfamily_domains:SSF49879	interferon regulatory factor 8				ENSP00000268638		9-Jul									COSM3402528	9-Jul	.		ENST00000268638	Transcript	1		interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	ENSG00000140968	g.chr16:85952071G>A	5358			MODERATE		2.305	medium	getma.org/?cm=msa&ty=f&p=IRF8_HUMAN&rb=202&re=382&var=G217D	getma.org/pdb.php?prot=IRF8_HUMAN&from=202&to=382&var=G217D	getma.org/?cm=var&var=hg19,16,85952071,G,A&fts=all	G217D	--	--	1																																		IRF8_uc010chp.2_Intron	1	1		probably_damaging(1)	p.G217D	NM_002163	NP_002154		tolerated(0.52)	1	IRF8_HUMAN	IRF8	HGNC	Q02556	IRF8_HUMAN			H3BT31_HUMAN,H3BRT4_HUMAN,H3BQK3_HUMAN,H3BQH6_HUMAN,H3BPS5_HUMAN		7	707	+		Prostate(104;0.0771)	UPI000012D188	217					SNV	IRF8,missense_variant,p.Gly217Asp,ENST00000268638,NM_002163.2;IRF8,missense_variant,p.Gly217Asp,ENST00000564803,;IRF8,missense_variant,p.Gly13Asp,ENST00000562492,;IRF8,missense_variant,p.Gly13Asp,ENST00000569607,;IRF8,missense_variant,p.Ala7Thr,ENST00000569145,;IRF8,intron_variant,,ENST00000566369,;	uc002fjh.2	c.650G>A	1072/3030	1	1			c.650G>A						16	SNP	c.(649-651)GGC>GAC	56	56			breast(2)|ovary(1)	3	Broad	interferon regulatory factor 8			85952071		0.662	ENSG00000140968	7700	g.chr16:85952071G>A	interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity							135.307954	KEEP	39	31	-1	67	54	39	31	-1	138.012644	67	54	0.360759	1	0	0	0	0	1	0	0	0	--	--		0	A			IRF8_uc010chp.2_Intron	266	GBM-76-4926-TP	p.G217D	G	AAGCTGGTGGGCCAGGCCACC	NM_002163	NP_002154	85952071	Q02556	IRF8_HUMAN	0			7	707	+	A	A		Prostate(104;0.0771)	Missense_Mutation	217						
IRF9	10379		GRCh37	14	24635334	24635334	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000396864.3:c.1111G>A	p.Glu371Lys	p.E371K	ENST00000396864	NM_006084.4	371	Gag/Aag	0																																																																																																																																																																																																																																												
IRGC	56269	broad.mit.edu	GRCh37	19	44222975	44222975	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01	TCGA-02-2485-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000244314.5:c.265G>A	p.Val89Ile	p.V89I	ENST00000244314	NM_019612.3	89	Gtc/Atc	0			1			A	V/I	uc002oxh.2	protein_coding	YES	CCDS12629.1			265/1392									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(265-267)GTC>ATC			Gene3D:3.40.50.300,Pfam_domain:PF05049,PROSITE_profiles:PS51716,hmmpanther:PTHR32341,hmmpanther:PTHR32341:SF7,Superfamily_domains:SSF52540	immunity-related GTPase family, cinema				ENSP00000244314		2-Feb	1.65E-05					3.11E-05			rs770459179,COSM3404351	2-Feb	.		ENST00000244314	Transcript				membrane	GTP binding|hydrolase activity, acting on acid anhydrides	ENSG00000124449	g.chr19:44222975G>A	28835			MODERATE		2.2	medium	getma.org/?cm=msa&ty=f&p=IIGP5_HUMAN&rb=20&re=402&var=V89I	getma.org/pdb.php?prot=IIGP5_HUMAN&from=20&to=402&var=V89I	getma.org/?cm=var&var=hg19,19,44222975,G,A&fts=all	V89I	--	--	1																																			0,1	1		possibly_damaging(0.477)	p.V89I	NM_019612	NP_062558		tolerated(0.06)	0,1	IIGP5_HUMAN	IRGC	HGNC	Q6NXR0	IIGP5_HUMAN			J7NNX4_HUMAN		2	412	+		Prostate(69;0.0435)	UPI000011DFC0	89			GTP.		SNV	IRGC,missense_variant,p.Val89Ile,ENST00000244314,NM_019612.3;IRGC,missense_variant,p.Val126Ile,ENST00000596627,;	uc002oxh.2	c.265G>A	464/1662	2	2			c.265G>A						19	SNP	c.(265-267)GTC>ATC	28	28			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	immunity-related GTPase family, cinema			44222975		0.701	ENSG00000124449	7702	g.chr19:44222975G>A		membrane	GTP binding|hydrolase activity, acting on acid anhydrides	Colon(189;350 2037 11447 13433 38914)			Colon(189;350 2037 11447 13433 38914)			63.273807	KEEP	15	11	-1	31	30	15	11	-1	66.130111	31	30	0.3	1	0	0	0	0	1	0	0	0	--	--		0	A				7	GBM-02-2485-TP	p.V89I	G	TCTCACGGGCGTCATGGAGAC	NM_019612	NP_062558	44222975	Q6NXR0	IIGP5_HUMAN	0			2	412	+	A	A		Prostate(69;0.0435)	Missense_Mutation	89			GTP.			
IRGC	56269	broad.mit.edu	GRCh37	19	44223553	44223553	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0192-01	TCGA-06-0192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000244314.5:c.843G>A	p.Pro281=	p.P281=	ENST00000244314	NM_019612.3	281	ccG/ccA	0			1			A	P	uc002oxh.2	protein_coding	YES	CCDS12629.1			843/1392									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(841-843)CCG>CCA			Pfam_domain:PF05049,hmmpanther:PTHR32341,hmmpanther:PTHR32341:SF7	immunity-related GTPase family, cinema				ENSP00000244314		2-Feb	3.30E-05				0.000152	4.63E-05			rs201293395,COSM3404352	2-Feb	.		ENST00000244314	Transcript				membrane	GTP binding|hydrolase activity, acting on acid anhydrides	ENSG00000124449	g.chr19:44223553G>A	28835			LOW								--	--	1																																			0,1	1			p.P281P	NM_019612	NP_062558			0,1	IIGP5_HUMAN	IRGC	HGNC	Q6NXR0	IIGP5_HUMAN			J7NNX4_HUMAN		2	990	+		Prostate(69;0.0435)	UPI000011DFC0	281					SNV	IRGC,synonymous_variant,p.=,ENST00000244314,NM_019612.3;IRGC,downstream_gene_variant,,ENST00000596627,;	uc002oxh.2	c.843G>A	1042/1662	1	1			c.843G>A						19	SNP	c.(841-843)CCG>CCA	51	51			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	immunity-related GTPase family, cinema			44223553		0.632	ENSG00000124449	7702	g.chr19:44223553G>A		membrane	GTP binding|hydrolase activity, acting on acid anhydrides	Colon(189;350 2037 11447 13433 38914)			Colon(189;350 2037 11447 13433 38914)			-19.632576	KEEP	5	8	-1	111	112	5	8	-1	16.124447	111	112	0.048485	1	0	0	0	0	0	0	1	0	--	--		0	A				44	GBM-06-0192-TP	p.P281P	G	AGGCCCTGCCGGTCCCAGGGC	NM_019612	NP_062558	44223553	Q6NXR0	IIGP5_HUMAN	0			2	990	+	A	A		Prostate(69;0.0435)	Silent	281						
IRGC	0	broad.mit.edu	GRCh37	19	44223763	44223763	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-3915-01	TCGA-41-3915-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000244314.5:c.1053C>T	p.Ser351=	p.S351=	ENST00000244314	NM_019612.3	351	tcC/tcT	0		T:0	1	T:0.0014		T	S	uc002oxh.2	protein_coding	YES	CCDS12629.1			1053/1392									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(1051-1053)TCC>TCT			hmmpanther:PTHR32341,hmmpanther:PTHR32341:SF7	immunity-related GTPase family, cinema		T:0		ENSP00000244314	T:0	2-Feb	1.65E-05		8.78E-05			1.54E-05			rs543218904,COSM1394310	2-Feb	.		ENST00000244314	Transcript		T:0.0002		membrane	GTP binding|hydrolase activity, acting on acid anhydrides	ENSG00000124449	g.chr19:44223763C>T	28835			LOW								--	--	1																																			0,1	1			p.S351S	NM_019612	NP_062558	T:0		0,1	IIGP5_HUMAN	IRGC	HGNC	Q6NXR0	IIGP5_HUMAN			J7NNX4_HUMAN		2	1200	+		Prostate(69;0.0435)	UPI000011DFC0	351					SNV	IRGC,synonymous_variant,p.=,ENST00000244314,NM_019612.3;IRGC,downstream_gene_variant,,ENST00000596627,;	uc002oxh.2	c.1053C>T	1252/1662	2	2			c.1053C>T						19	SNP	c.(1051-1053)TCC>TCT	28	28			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	immunity-related GTPase family, cinema			44223763		0.657	ENSG00000124449	7702	g.chr19:44223763C>T		membrane	GTP binding|hydrolase activity, acting on acid anhydrides	Colon(189;350 2037 11447 13433 38914)			Colon(189;350 2037 11447 13433 38914)			36.418138	KEEP	13	4	-1	26	14	13	4	-1	38.293363	26	14	0.291667	1	0	0	0	0	0	0	1	0	--	--		0	T				256	GBM-41-3915-TP	p.S351S	C	CCCAGTCGTCCGACGGCGCCA	NM_019612	NP_062558	44223763	Q6NXR0	IIGP5_HUMAN	0			2	1200	+	T	T		Prostate(69;0.0435)	Silent	351						
IRS1	3667	broad.mit.edu	GRCh37	2	227660808	227660810	+	inframe_deletion	In_Frame_Del	DEL	GCT	GCT	-			TCGA-06-0878-01	TCGA-06-0878-01	GCT	GCT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305123.5:c.2645_2647del	p.Gln882del	p.Q882del	ENST00000305123	NM_005544.2	882	cAGCcc/ccc	0			1			-	QP/P	uc002voh.3	protein_coding	YES	CCDS2463.1			2645-2647/3729									lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12	c.(2644-2649)CAGCCC>CCC			Low_complexity_(Seg):seg,hmmpanther:PTHR10614:SF11,hmmpanther:PTHR10614	insulin receptor substrate 1				ENSP00000304895		2-Jan									rs751981561,COSM1724776	2-Jan	.		ENST00000305123	Transcript	1		fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	ENSG00000169047	g.chr2:227660808_227660810delGCT	6125			MODERATE								--	--	1																																			0,1	1			p.Q882del	NM_005544	NP_005535			0,1	IRS1_HUMAN	IRS1	HGNC	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)			1	2697_2699	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	UPI000003BB52	882			Poly-Gln.		deletion	IRS1,inframe_deletion,p.Gln882del,ENST00000305123,NM_005544.2;RP11-395N3.2,upstream_gene_variant,,ENST00000607970,;IRS1,upstream_gene_variant,,ENST00000498335,;	uc002voh.3	c.2645_2647delAGC	3666-3668/9705	5	5			c.2645_2647delAGC						2	DEL	c.(2644-2649)CAGCCC>CCC	24	24			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12	Broad	insulin receptor substrate 1			227660810		0.557	ENSG00000169047	7704	g.chr2:227660808_227660810delGCT	fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			143			143														0.04	1	1	0	1	0	0	0	0	0	--	--		0	-				74	GBM-06-0878-TP	p.Q882del	GCT	TGCAGCAAGGgctgctgctgctg	NM_005544	NP_005535	227660808	P35568	IRS1_HUMAN	0		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	2697_2699	-	-	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	In_Frame_Del	882			Poly-Gln.			
IRS1	0	broad.mit.edu	GRCh37	2	227661259	227661259	+	stop_gained	Nonsense_Mutation	SNP	G	G	C			TCGA-06-6701-01	TCGA-06-6701-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305123.5:c.2196C>G	p.Tyr732Ter	p.Y732*	ENST00000305123	NM_005544.2	732	taC/taG	0			1			C	Y/*	uc002voh.3	protein_coding	YES	CCDS2463.1			2196/3729									lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12	c.(2194-2196)TAC>TAG			hmmpanther:PTHR10614:SF11,hmmpanther:PTHR10614	insulin receptor substrate 1				ENSP00000304895		2-Jan									COSM3407626	2-Jan	.		ENST00000305123	Transcript	1		fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	ENSG00000169047	g.chr2:227661259G>C	6125			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,227661259,G,C&fts=all	Y732*	--	--	1																																OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1	1			p.Y732*	NM_005544	NP_005535			1	IRS1_HUMAN	IRS1	HGNC	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)			1	2248	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	UPI000003BB52	732			YXXM motif 6.		SNV	IRS1,stop_gained,p.Tyr732Ter,ENST00000305123,NM_005544.2;RP11-395N3.2,upstream_gene_variant,,ENST00000607970,;IRS1,upstream_gene_variant,,ENST00000498335,;	uc002voh.3	c.2196C>G	3217/9705	5	3			c.2196C>G						2	SNP	c.(2194-2196)TAC>TAG	13	13			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12	Broad	insulin receptor substrate 1			227661259		0.597	ENSG00000169047	7704	g.chr2:227661259G>C	fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			143			143	-43.847921	KEEP	2	1	-1	105	100	2	1	-1	6.344733	105	100	0.015873	1	0	0	0	0	0	1	0	0	--	--		0	C	OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		115	GBM-06-6701-TP	p.Y732*	G	ACATGTTCATGTAGTCACCTG	NM_005544	NP_005535	227661259	P35568	IRS1_HUMAN	0		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	2248	-	C	C		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	Nonsense_Mutation	732			YXXM motif 6.			
IRS1	0	broad.mit.edu	GRCh37	2	227659846	227659846	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-12-0821-01	TCGA-12-0821-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305123.5:c.3609A>C	p.Pro1203=	p.P1203=	ENST00000305123	NM_005544.2	1203	ccA/ccC	0			1			G	P	uc002voh.3	protein_coding	YES	CCDS2463.1			3609/3729									lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12	c.(3607-3609)CCA>CCC			Low_complexity_(Seg):seg,hmmpanther:PTHR10614:SF11,hmmpanther:PTHR10614	insulin receptor substrate 1				ENSP00000304895		2-Jan	0.00438	0.00293	0.00547	0.00438	0.0042	0.00734	0.00155	0.000901	rs765518355,COSM3748118	2-Jan	common_variant		ENST00000305123	Transcript	1		fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	ENSG00000169047	g.chr2:227659846T>G	6125			LOW								--	--	1																																			0,1	1			p.P1203P	NM_005544	NP_005535			0,1	IRS1_HUMAN	IRS1	HGNC	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)			1	3661	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	UPI000003BB52	1203			Pro-rich.		SNV	IRS1,synonymous_variant,p.=,ENST00000305123,NM_005544.2;IRS1,non_coding_transcript_exon_variant,,ENST00000498335,;	uc002voh.3	c.3609A>C	4630/9705	3	3			c.3609A>C						2	SNP	c.(3607-3609)CCA>CCC	62	62			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12	Broad	insulin receptor substrate 1			227659846		0.582	ENSG00000169047	7704	g.chr2:227659846T>G	fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			143			143	1.904981	KEEP	19	12	-1	87	18	19	12	-1	12.782373	87	18	0.126582	1	0	0	0	0	0	0	1	0	--	--		0	G				123	GBM-12-0821-TP	p.P1203P	T	GGGGTGGGGGTGGGGGAGGCT	NM_005544	NP_005535	227659846	P35568	IRS1_HUMAN	0		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	3661	-	G	G		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	Silent	1203			Pro-rich.			
IRS2	0	broad.mit.edu	GRCh37	13	110436118	110436118	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5958-01	TCGA-19-5958-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375856.3:c.2283G>A	p.Leu761=	p.L761=	ENST00000375856	NM_003749.2	761	ctG/ctA	0			1			T	L	uc001vqv.2	protein_coding	YES	CCDS9510.1			2283/4017									large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8	c.(2281-2283)CTG>CTA			hmmpanther:PTHR10614,hmmpanther:PTHR10614:SF7	insulin receptor substrate 2				ENSP00000365016		2-Jan	1.69E-05							0.000213	rs780182912,COSM3399227	2-Jan	.		ENST00000375856	Transcript			fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	ENSG00000185950	g.chr13:110436118C>T	6126			LOW								--	--	1																																			0,1	1			p.L761L	NM_003749	NP_003740			0,1	IRS2_HUMAN	IRS2	HGNC	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		Q9UP29_HUMAN,Q8TF73_HUMAN		1	2797	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	UPI000006E4A8	761					SNV	IRS2,synonymous_variant,p.=,ENST00000375856,NM_003749.2;	uc001vqv.2	c.2283G>A	2798/6999	1	1			c.2283G>A						13	SNP	c.(2281-2283)CTG>CTA	16	16			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8	Broad	insulin receptor substrate 2			110436118		0.692	ENSG00000185950	7705	g.chr13:110436118C>T	fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	Melanoma(100;613 2409 40847)		156	Melanoma(100;613 2409 40847)		156	10.795496	KEEP	2	3	-1	4	5	2	3	-1	11.090955	4	5	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	T				176	GBM-19-5958-TP	p.L761L	C	CCCCGTTGGGCAGCAGCTTGC	NM_003749	NP_003740	110436118	Q9Y4H2	IRS2_HUMAN	0	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		1	2797	-	T	T	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	Silent	761						
IRS4	0	broad.mit.edu	GRCh37	X	107978476	107978476	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-28-1753-01	TCGA-28-1753-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372129.2:c.1099G>C	p.Glu367Gln	p.E367Q	ENST00000372129	NM_003604.2	367	Gag/Cag	0			1			G	E/Q	uc004eoc.2	protein_coding	YES	CCDS14544.1			1099/3774									ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10	c.(1099-1101)GAG>CAG			hmmpanther:PTHR10614,hmmpanther:PTHR10614:SF2	insulin receptor substrate 4				ENSP00000361202		1-Jan									COSM373446	1-Jan	.		ENST00000372129	Transcript				plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	ENSG00000133124	g.chrX:107978476C>G	6128			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=IRS4_HUMAN&rb=334&re=533&var=E367Q	NA	getma.org/?cm=var&var=hg19,X,107978476,C,G&fts=all	E367Q	--	--	1																																			1	1		benign(0.325)	p.E367Q	NM_003604	NP_003595		tolerated(0.16)	1	IRS4_HUMAN	IRS4	HGNC	O14654	IRS4_HUMAN					1	1132	-			UPI0000073FE7	367					SNV	IRS4,missense_variant,p.Glu367Gln,ENST00000372129,NM_003604.2;RP6-24A23.6,upstream_gene_variant,,ENST00000563887,;RP6-24A23.3,upstream_gene_variant,,ENST00000436013,;RP6-24A23.3,upstream_gene_variant,,ENST00000608811,;	uc004eoc.2	c.1099G>C	1176/3940	3	3			c.1099G>C						23	SNP	c.(1099-1101)GAG>CAG	10	10			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10	Broad	insulin receptor substrate 4			107978476		0.632	ENSG00000133124	7706	g.chrX:107978476C>G		plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity							-14.830382	KEEP	6	1	-1	86	77	6	1	-1	12.543899	86	77	0.041322	1	0	0	0	0	1	0	0	0	--	--		0	G				207	GBM-28-1753-TP	p.E367Q	C	CCTCCCGGCTCGAGCGGCACC	NM_003604	NP_003595	107978476	O14654	IRS4_HUMAN	0			1	1132	-	G	G			Missense_Mutation	367						
IRS4	0	broad.mit.edu	GRCh37	X	107977802	107977803	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C			TCGA-28-2509-01	TCGA-28-2509-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372129.2:c.1772dupG	p.Lys592GlnfsTer12	p.K592Qfs*12	ENST00000372129	NM_003604.2	591	ggc/ggGc	0	C:0.0086		1			C	G/GX	uc004eoc.2	protein_coding	YES	CCDS14544.1			1772-1773/3774									ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10	c.(1771-1773)GGCfs			hmmpanther:PTHR10614,hmmpanther:PTHR10614:SF2,Low_complexity_(Seg):seg	insulin receptor substrate 4			C:0.0039	ENSP00000361202		1-Jan	0.00404	0.00588	0.00107	0.000754		0.00719	0.00477	0.000198	rs780982673,COSM391267	1-Jan	common_variant		ENST00000372129	Transcript				plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	ENSG00000133124	g.chrX:107977802_107977803insC	6128			HIGH								--	--	1																																			0,1	1			p.G591fs	NM_003604	NP_003595			0,1	IRS4_HUMAN	IRS4	HGNC	O14654	IRS4_HUMAN					1	1805_1806	-			UPI0000073FE7	591					insertion	IRS4,frameshift_variant,p.Lys592GlnfsTer12,ENST00000372129,NM_003604.2;RP6-24A23.6,upstream_gene_variant,,ENST00000563887,;RP6-24A23.3,upstream_gene_variant,,ENST00000436013,;RP6-24A23.3,upstream_gene_variant,,ENST00000608811,;	uc004eoc.2	c.1772_1773insG	1849-1850/3940	5	5			c.1772_1773insG						23	INS	c.(1771-1773)GGCfs	53	53			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10	Broad	insulin receptor substrate 4			107977803		0.545	ENSG00000133124	7706	g.chrX:107977802_107977803insC		plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity																				0.01	1	0	0	1	1	0	0	0	0	--	--		0	C				211	GBM-28-2509-TP	p.G591fs	-	CTGAGCCTTTGCCCCCCCCAGA	NM_003604	NP_003595	107977802	O14654	IRS4_HUMAN	0			1	1805_1806	-	C	C			Frame_Shift_Ins	591						
IRX1	79192		GRCh37	5	3600344	3600344	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000302006.3:c.1282G>A	p.Ala428Thr	p.A428T	ENST00000302006	NM_024337.3	428	Gcc/Acc	0																																																																																																																																																																																																																																												
IRX2	0	broad.mit.edu	GRCh37	5	2749779	2749779	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302057.5:c.372C>T	p.Asp124=	p.D124=	ENST00000302057	NM_033267.4	124	gaC/gaT	0			1			A	D	uc003jda.2	protein_coding		CCDS3868.1			372/1416									skin(1)	1	c.(370-372)GAC>GAT			Gene3D:1.10.10.60,PROSITE_profiles:PS50071,hmmpanther:PTHR11211,hmmpanther:PTHR11211:SF15,SMART_domains:SM00389,Superfamily_domains:SSF46689	iroquois homeobox 2				ENSP00000307006		4-Feb									COSM1067191	4-Feb	.		ENST00000302057	Transcript				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000170561	g.chr5:2749779G>A	14359			LOW								--	--	1																																		C5orf38_uc003jdc.2_5'Flank|C5orf38_uc011cmg.1_5'Flank|C5orf38_uc011cmh.1_5'Flank|C5orf38_uc011cmi.1_5'Flank|C5orf38_uc011cmj.1_5'Flank|IRX2_uc003jdb.2_Silent_p.D124D	1				p.D124D	NM_001134222	NP_001127694			1	IRX2_HUMAN	IRX2	HGNC	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)			2	614	-			UPI00001B6456	124			Homeobox; TALE-type.		SNV	IRX2,synonymous_variant,p.=,ENST00000382611,NM_001134222.1;IRX2,synonymous_variant,p.=,ENST00000302057,NM_033267.4;C5orf38,upstream_gene_variant,,ENST00000515640,;C5orf38,upstream_gene_variant,,ENST00000334000,NM_178569.2;C5orf38,upstream_gene_variant,,ENST00000397835,;C5orf38,upstream_gene_variant,,ENST00000505778,;C5orf38,upstream_gene_variant,,ENST00000457752,;IRX2,non_coding_transcript_exon_variant,,ENST00000502957,;C5orf38,upstream_gene_variant,,ENST00000503940,;C5orf38,upstream_gene_variant,,ENST00000505106,;	uc003jda.2	c.372C>T	614/2456	2	2			c.372C>T						5	SNP	c.(370-372)GAC>GAT	42	42			skin(1)	1	Broad	iroquois homeobox 2			2749779		0.652	ENSG00000170561	7708	g.chr5:2749779G>A		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							115.719949	KEEP	28	19	-1	25	30	28	19	-1	115.911322	25	30	0.451613	1	0	0	0	0	0	0	1	0	--	--		0	A			C5orf38_uc003jdc.2_5'Flank|C5orf38_uc011cmg.1_5'Flank|C5orf38_uc011cmh.1_5'Flank|C5orf38_uc011cmi.1_5'Flank|C5orf38_uc011cmj.1_5'Flank|IRX2_uc003jdb.2_Silent_p.D124D	159	GBM-19-1390-TP	p.D124D	G	TGGCCGTGGCGTCCCGCGTGG	NM_001134222	NP_001127694	2749779	Q9BZI1	IRX2_HUMAN	0		GBM - Glioblastoma multiforme(108;0.204)	2	614	-	A	A			Silent	124			Homeobox; TALE-type.			
IRX4	0	broad.mit.edu	GRCh37	5	1880903	1880903	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5952-01	TCGA-19-5952-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000231357.2:c.343C>T	p.Leu115=	p.L115=	ENST00000231357	NM_016358.2	115	Ctg/Ttg	0			1			A	L	uc003jcz.2	protein_coding		CCDS3867.1			343/1560										0	c.(343-345)CTG>TTG			hmmpanther:PTHR11211:SF16,hmmpanther:PTHR11211	iroquois homeobox 4				ENSP00000231357		5-Mar									COSM2156685	5-Mar	.		ENST00000231357	Transcript			heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000113430	g.chr5:1880903G>A	6129			LOW								--	--	1																																		IRX4_uc011cmf.1_5'UTR	1				p.L115L	NM_016358	NP_057442			1	IRX4_HUMAN	IRX4	HGNC	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	H1AFL0_HUMAN		3	462	-			UPI000012D8C7	115					SNV	IRX4,synonymous_variant,p.=,ENST00000505790,NM_001278634.1;IRX4,synonymous_variant,p.=,ENST00000231357,NM_016358.2;IRX4,synonymous_variant,p.=,ENST00000513692,NM_001278632.1;IRX4,synonymous_variant,p.=,ENST00000511126,;CTD-2194D22.3,upstream_gene_variant,,ENST00000506335,;IRX4,non_coding_transcript_exon_variant,,ENST00000505938,;IRX4,synonymous_variant,p.=,ENST00000508261,;	uc003jcz.2	c.343C>T	462/2221	2	2			c.343C>T						5	SNP	c.(343-345)CTG>TTG	41	41				0	Broad	iroquois homeobox 4			1880903		0.622	ENSG00000113430	7710	g.chr5:1880903G>A	heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							164.377144	KEEP	22	40	-1	34	59	22	40	-1	165.559139	34	59	0.396947	1	0	0	0	0	0	0	1	0	--	--		0	A			IRX4_uc011cmf.1_5'UTR	172	GBM-19-5952-TP	p.L115L	G	GCTGGTGCCAGGCCCCCATGC	NM_016358	NP_057442	1880903	P78413	IRX4_HUMAN	0		GBM - Glioblastoma multiforme(108;0.242)	3	462	-	A	A			Silent	115						
IRX5	0	broad.mit.edu	GRCh37	16	54967470	54967470	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394636.4:c.1137C>T	p.Ala379=	p.A379=	ENST00000394636		379	gcC/gcT	0			1			T	A	uc002ehv.2	protein_coding	YES	CCDS10751.1			1137/1452										0	c.(1135-1137)GCC>GCT			hmmpanther:PTHR11211,hmmpanther:PTHR11211:SF17,Low_complexity_(Seg):seg	iroquois homeobox protein 5				ENSP00000378132		3-Mar									COSM3402366	3-Mar	.		ENST00000394636	Transcript	1		response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	ENSG00000176842	g.chr16:54967470C>T	14361			LOW								--	--	1																																		IRX5_uc002ehw.2_Silent_p.A313A	1	1			p.A379A	NM_005853	NP_005844			1	IRX5_HUMAN	IRX5	HGNC	P78411	IRX5_HUMAN					3	1137	+			UPI00001FF1CD	379					SNV	IRX5,synonymous_variant,p.=,ENST00000394636,;IRX5,synonymous_variant,p.=,ENST00000320990,NM_005853.5,NM_001252197.1;IRX5,synonymous_variant,p.=,ENST00000558597,;IRX5,synonymous_variant,p.=,ENST00000560154,;CRNDE,upstream_gene_variant,,ENST00000560208,;CRNDE,upstream_gene_variant,,ENST00000502066,;CRNDE,upstream_gene_variant,,ENST00000558952,;CRNDE,upstream_gene_variant,,ENST00000559432,;CTD-3032H12.1,downstream_gene_variant,,ENST00000559802,;CTD-3032H12.1,downstream_gene_variant,,ENST00000558156,;CRNDE,upstream_gene_variant,,ENST00000557792,;CRNDE,upstream_gene_variant,,ENST00000560912,;CTD-3032H12.2,upstream_gene_variant,,ENST00000560487,;	uc002ehv.2	c.1137C>T	1474/2401	2	2			c.1137C>T						16	SNP	c.(1135-1137)GCC>GCT	30	30				0	Broad	iroquois homeobox protein 5			54967470		0.721	ENSG00000176842	7711	g.chr16:54967470C>T	response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding							24.761132	KEEP	4	7	-1	8	5	4	7	-1	24.805899	8	5	0.45	1	0	0	0	0	0	0	1	0	--	--		0	T			IRX5_uc002ehw.2_Silent_p.A313A	269	GBM-76-4929-TP	p.A379A	C	CGTCGCCGGCCCCGGCGCCGT	NM_005853	NP_005844	54967470	P78411	IRX5_HUMAN	0			3	1137	+	T	T			Silent	379						
IRX6	79190	broad.mit.edu	GRCh37	16	55361572	55361572	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6388-01	TCGA-06-6388-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290552.7:c.488C>T	p.Ala163Val	p.A163V	ENST00000290552	NM_024335.2	163	gCc/gTc	0			1			T	A/V	uc002ehy.2	protein_coding	YES	CCDS32449.1			488/1341									central_nervous_system(5)|ovary(1)	6	c.(487-489)GCC>GTC			Gene3D:1.10.10.60,PROSITE_profiles:PS50071,hmmpanther:PTHR11211,hmmpanther:PTHR11211:SF11,SMART_domains:SM00389,Superfamily_domains:SSF46689	iroquois homeobox protein 6				ENSP00000290552		6-Apr									COSM1242384	6-Apr	.		ENST00000290552	Transcript				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000159387	g.chr16:55361572C>T	14675			MODERATE		2.76	medium	getma.org/?cm=msa&ty=f&p=IRX6_HUMAN&rb=1&re=163&var=A163V	NA	getma.org/?cm=var&var=hg19,16,55361572,C,T&fts=all	A163V	--	--	1																																		IRX6_uc002ehx.2_Missense_Mutation_p.A163V|IRX6_uc010ccb.1_RNA	1	1		probably_damaging(0.978)	p.A163V	NM_024335	NP_077311		deleterious(0)	1	IRX6_HUMAN	IRX6	HGNC	P78412	IRX6_HUMAN			Q9BZI2_HUMAN		4	1021	+			UPI00001C0A88	163			Homeobox; TALE-type.		SNV	IRX6,missense_variant,p.Ala163Val,ENST00000290552,NM_024335.2;RP11-26L20.4,upstream_gene_variant,,ENST00000573934,;RP11-26L20.3,intron_variant,,ENST00000558730,;IRX6,non_coding_transcript_exon_variant,,ENST00000558315,;	uc002ehy.2	c.488C>T	1820/3128	2	2			c.488C>T						16	SNP	c.(487-489)GCC>GTC	33	33			central_nervous_system(5)|ovary(1)	6	Broad	iroquois homeobox protein 6			55361572		0.592	ENSG00000159387	7712	g.chr16:55361572C>T		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							81.76426	KEEP	17	14	-1	12	22	17	14	-1	81.767867	12	22	0.508772	1	0	0	0	0	1	0	0	0	--	--		0	T			IRX6_uc002ehx.2_Missense_Mutation_p.A163V|IRX6_uc010ccb.1_RNA	104	GBM-06-6388-TP	p.A163V	C	ACACTCAAGGCCTGGCTCAAC	NM_024335	NP_077311	55361572	P78412	IRX6_HUMAN	0			4	1021	+	T	T			Missense_Mutation	163			Homeobox; TALE-type.			
ISCU	0	broad.mit.edu	GRCh37	12	108962628	108962628	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-41-4097-01	TCGA-41-4097-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311893.9:c.440A>G	p.Lys147Arg	p.K147R	ENST00000311893	NM_213595.2	147	aAg/aGg	0			1			G	K/R	uc010sxc.1	protein_coding	YES	CCDS44966.1			440/504										0	c.(439-441)AAG>AGG			Gene3D:3.90.1010.10,Pfam_domain:PF01592,hmmpanther:PTHR10093,Superfamily_domains:SSF82649,TIGRFAM_domain:TIGR01999	iron-sulfur cluster assembly enzyme isoform				ENSP00000310623		5-May									COSM3398305,COSM3398304	5-May	.		ENST00000311893	Transcript	1		iron-sulfur cluster assembly|nitrogen fixation	cytosol|mitochondrion|nucleus	iron ion binding|iron-sulfur cluster binding|protein complex scaffold	ENSG00000136003	g.chr12:108962628A>G	29882			MODERATE		1.195	low	getma.org/?cm=msa&ty=f&p=ISCU_HUMAN&rb=34&re=160&var=K147R	getma.org/pdb.php?prot=ISCU_HUMAN&from=34&to=160&var=K147R	getma.org/?cm=var&var=hg19,12,108962628,A,G&fts=all	K147R	--	--	1																																		ISCU_uc010sxb.1_3'UTR|ISCU_uc001tnc.3_Missense_Mutation_p.K122R|ISCU_uc009zuy.2_3'UTR|ISCU_uc010sxd.1_3'UTR	1,1	1		benign(0.085)	p.K147R	NM_213595	NP_998760		tolerated(0.12)	1,1	ISCU_HUMAN	ISCU	HGNC	Q9H1K1	ISCU_HUMAN					5	545	+			UPI000021CA9A	147					SNV	ISCU,missense_variant,p.Lys122Arg,ENST00000392807,NM_014301.3;ISCU,missense_variant,p.Lys147Arg,ENST00000311893,NM_213595.2;ISCU,3_prime_UTR_variant,,ENST00000338291,;ISCU,3_prime_UTR_variant,,ENST00000431221,;ISCU,3_prime_UTR_variant,,ENST00000547005,;ISCU,downstream_gene_variant,,ENST00000535729,;ISCU,downstream_gene_variant,,ENST00000539593,;ISCU,non_coding_transcript_exon_variant,,ENST00000540154,;ISCU,3_prime_UTR_variant,,ENST00000539580,;ISCU,non_coding_transcript_exon_variant,,ENST00000545932,;ISCU,non_coding_transcript_exon_variant,,ENST00000538193,;ISCU,downstream_gene_variant,,ENST00000535405,;ISCU,downstream_gene_variant,,ENST00000552072,;ISCU,downstream_gene_variant,,ENST00000544493,;	uc010sxc.1	c.440A>G	462/994	3	3			c.440A>G						12	SNP	c.(439-441)AAG>AGG	54	54				0	Broad	iron-sulfur cluster assembly enzyme isoform			108962628		0.478	ENSG00000136003	7716	g.chr12:108962628A>G	iron-sulfur cluster assembly|nitrogen fixation	cytosol|mitochondrion|nucleus	iron ion binding|iron-sulfur cluster binding|protein complex scaffold							3.73602	KEEP	0	2	-1	11	9	0	2	-1	6.677953	11	9	0.105263	1	0	0	0	0	1	0	0	0	--	--		0	G			ISCU_uc010sxb.1_3'UTR|ISCU_uc001tnc.3_Missense_Mutation_p.K122R|ISCU_uc009zuy.2_3'UTR|ISCU_uc010sxd.1_3'UTR	257	GBM-41-4097-TP	p.K147R	A	GATGCAATCAAGGCCGCCCTG	NM_213595	NP_998760	108962628	Q9H1K1	ISCU_HUMAN	0			5	545	+	G	G			Missense_Mutation	147						
ISLR	3671	broad.mit.edu	GRCh37	15	74467595	74467595	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0184-01	TCGA-06-0184-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000249842.3:c.396C>T	p.Asn132=	p.N132=	ENST00000249842	NM_005545.3	132	aaC/aaT	0			1			T	N	uc002axg.1	protein_coding	YES	CCDS10260.1			396/1287									large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4	c.(394-396)AAC>AAT			PROSITE_profiles:PS51450,hmmpanther:PTHR24366,hmmpanther:PTHR24366:SF10,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	immunoglobulin superfamily containing				ENSP00000249842		2-Feb	8.24E-06							6.06E-05	rs769729461,COSM964774	2-Feb	.		ENST00000249842	Transcript			cell adhesion	extracellular region		ENSG00000129009	g.chr15:74467595C>T	6133			LOW								--	--	1																																		ISLR_uc002axh.1_Silent_p.N132N	0,1	1			p.N132N	NM_005545	NP_005536			0,1	ISLR_HUMAN	ISLR	HGNC	O14498	ISLR_HUMAN			H0YN67_HUMAN,H0YL90_HUMAN		2	678	+			UPI0000049E09	132			LRR 4.		SNV	ISLR,synonymous_variant,p.=,ENST00000249842,NM_005545.3;ISLR,synonymous_variant,p.=,ENST00000395118,NM_201526.1;ISLR,synonymous_variant,p.=,ENST00000560862,;ISLR,synonymous_variant,p.=,ENST00000559510,;STRA6,downstream_gene_variant,,ENST00000323940,NM_001142618.1,NM_001142619.1,NM_001142617.1;STRA6,downstream_gene_variant,,ENST00000395105,NM_022369.3,NM_001199042.1;STRA6,downstream_gene_variant,,ENST00000423167,;STRA6,downstream_gene_variant,,ENST00000416286,;STRA6,downstream_gene_variant,,ENST00000449139,;STRA6,downstream_gene_variant,,ENST00000535552,NM_001199040.1;STRA6,downstream_gene_variant,,ENST00000563965,;STRA6,downstream_gene_variant,,ENST00000574278,NM_001199041.1;STRA6,downstream_gene_variant,,ENST00000572785,;RP11-665J16.1,intron_variant,,ENST00000561647,;STRA6,downstream_gene_variant,,ENST00000574439,;STRA6,downstream_gene_variant,,ENST00000545137,;	uc002axg.1	c.396C>T	753/2371	2	2			c.396C>T						15	SNP	c.(394-396)AAC>AAT	20	20			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4	Broad	immunoglobulin superfamily containing			74467595		0.592	ENSG00000129009	7722	g.chr15:74467595C>T	cell adhesion	extracellular region								62.946279	KEEP	17	11	-1	41	50	17	11	-1	69.717856	41	50	0.238532	1	0	0	0	0	0	0	1	0	--	--		0	T			ISLR_uc002axh.1_Silent_p.N132N	39	GBM-06-0184-TP	p.N132N	C	TGGACAGCAACGAGCTGACCT	NM_005545	NP_005536	74467595	O14498	ISLR_HUMAN	0			2	678	+	T	T			Silent	132			LRR 4.			
ISLR	3671	broad.mit.edu	GRCh37	15	74468444	74468444	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-06-0686-01	TCGA-06-0686-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000249842.3:c.1245G>C	p.Leu415=	p.L415=	ENST00000249842	NM_005545.3	415	ctG/ctC	0			1			C	L	uc002axg.1	protein_coding	YES	CCDS10260.1			1245/1287									large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4	c.(1243-1245)CTG>CTC			Low_complexity_(Seg):seg,hmmpanther:PTHR24366,hmmpanther:PTHR24366:SF10	immunoglobulin superfamily containing				ENSP00000249842		2-Feb									COSM2151556	2-Feb	.		ENST00000249842	Transcript			cell adhesion	extracellular region		ENSG00000129009	g.chr15:74468444G>C	6133			LOW								--	--	1																																		ISLR_uc002axh.1_Silent_p.L415L	1	1			p.L415L	NM_005545	NP_005536			1	ISLR_HUMAN	ISLR	HGNC	O14498	ISLR_HUMAN			H0YN67_HUMAN,H0YL90_HUMAN		2	1527	+			UPI0000049E09	415					SNV	ISLR,synonymous_variant,p.=,ENST00000249842,NM_005545.3;ISLR,synonymous_variant,p.=,ENST00000395118,NM_201526.1;STRA6,downstream_gene_variant,,ENST00000323940,NM_001142618.1,NM_001142619.1,NM_001142617.1;STRA6,downstream_gene_variant,,ENST00000395105,NM_022369.3,NM_001199042.1;STRA6,downstream_gene_variant,,ENST00000423167,;STRA6,downstream_gene_variant,,ENST00000416286,;STRA6,downstream_gene_variant,,ENST00000449139,;STRA6,downstream_gene_variant,,ENST00000535552,NM_001199040.1;STRA6,downstream_gene_variant,,ENST00000563965,;STRA6,downstream_gene_variant,,ENST00000574278,NM_001199041.1;STRA6,downstream_gene_variant,,ENST00000572785,;ISLR,downstream_gene_variant,,ENST00000560862,;ISLR,downstream_gene_variant,,ENST00000559510,;RP11-665J16.1,intron_variant,,ENST00000561647,;STRA6,downstream_gene_variant,,ENST00000574439,;STRA6,downstream_gene_variant,,ENST00000545137,;	uc002axg.1	c.1245G>C	1602/2371	4	4			c.1245G>C						15	SNP	c.(1243-1245)CTG>CTC	36	36			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4	Broad	immunoglobulin superfamily containing			74468444		0.617	ENSG00000129009	7722	g.chr15:74468444G>C	cell adhesion	extracellular region								82.720119	KEEP	24	9	-1	35	27	24	9	-1	84.232801	35	27	0.357143	1	0	0	0	0	0	0	1	0	--	--		0	C			ISLR_uc002axh.1_Silent_p.L415L	64	GBM-06-0686-TP	p.L415L	G	TGCTCCTGCTGGGCCAAAGCC	NM_005545	NP_005536	74468444	O14498	ISLR_HUMAN	0			2	1527	+	C	C			Silent	415						
ISLR2	57611	broad.mit.edu	GRCh37	15	74425374	74425374	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361742.3:c.279C>T	p.Gly93=	p.G93=	ENST00000361742	NM_001130136.1	93	ggC/ggT	0			1			T	G	uc002axd.2	protein_coding	YES	CCDS10259.1			279/2238										0	c.(277-279)GGC>GGT			PROSITE_profiles:PS51450,hmmpanther:PTHR24366:SF12,hmmpanther:PTHR24366,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,Superfamily_domains:SSF52058	immunoglobulin superfamily containing				ENSP00000355402		4-Apr									COSM2152150	4-Apr	.		ENST00000361742	Transcript			positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		ENSG00000167178	g.chr15:74425374C>T	29286			LOW								--	--	1																																		ISLR2_uc002axe.2_Silent_p.G93G|ISLR2_uc010bjg.2_Silent_p.G93G|ISLR2_uc010bjf.2_Silent_p.G93G	1	1			p.G93G	NM_001130136	NP_001123608			1	ISLR2_HUMAN	ISLR2	HGNC	Q6UXK2	ISLR2_HUMAN			H3BNZ6_HUMAN,H3BM95_HUMAN,H3BM69_HUMAN		4	1048	+			UPI000004C60F	93			Extracellular (Potential).|LRR 2.		SNV	ISLR2,synonymous_variant,p.=,ENST00000361742,NM_001130136.1,NM_020851.2;ISLR2,synonymous_variant,p.=,ENST00000435464,NM_001130138.1;ISLR2,synonymous_variant,p.=,ENST00000445793,;ISLR2,synonymous_variant,p.=,ENST00000419208,;ISLR2,synonymous_variant,p.=,ENST00000565159,NM_001130137.1;ISLR2,synonymous_variant,p.=,ENST00000453268,;ISLR2,synonymous_variant,p.=,ENST00000565540,;ISLR2,synonymous_variant,p.=,ENST00000561740,;ISLR2,synonymous_variant,p.=,ENST00000565332,;RP11-247C2.2,upstream_gene_variant,,ENST00000563727,;RP11-247C2.2,upstream_gene_variant,,ENST00000514871,;ISLR2,downstream_gene_variant,,ENST00000569886,;ISLR2,downstream_gene_variant,,ENST00000567206,;ISLR2,intron_variant,,ENST00000561975,;ISLR2,downstream_gene_variant,,ENST00000565068,;	uc002axd.2	c.279C>T	1048/4817	2	2			c.279C>T						15	SNP	c.(277-279)GGC>GGT	44	44				0	Broad	immunoglobulin superfamily containing			74425374		0.637	ENSG00000167178	7723	g.chr15:74425374C>T	positive regulation of axon extension	cell surface|integral to membrane|plasma membrane								80.317941	KEEP	12	21	-1	32	50	12	21	-1	84.637856	32	50	0.285714	1	0	0	0	0	0	0	1	0	--	--		0	T			ISLR2_uc002axe.2_Silent_p.G93G|ISLR2_uc010bjg.2_Silent_p.G93G|ISLR2_uc010bjf.2_Silent_p.G93G	73	GBM-06-0877-TP	p.G93G	C	TGGAGCCAGGCGCACTGGCCG	NM_001130136	NP_001123608	74425374	Q6UXK2	ISLR2_HUMAN	0			4	1048	+	T	T			Silent	93			Extracellular (Potential).|LRR 2.			
ISM1	0	broad.mit.edu	GRCh37	20	13279761	13279761	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-5214-01	TCGA-28-5214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262487.4:c.1050C>T	p.Asp350=	p.D350=	ENST00000262487	NM_080826.1	350	gaC/gaT	0		T:0.0008	1	T:0		T	D	uc010gce.1	protein_coding	YES	CCDS46579.1			1050/1395										0	c.(1048-1050)GAC>GAT			PROSITE_profiles:PS50856,hmmpanther:PTHR10199,Pfam_domain:PF03782,SMART_domains:SM00723	isthmin 1 homolog precursor		T:0		ENSP00000262487	T:0	6-Jun	8.26E-06	0.000118							rs572363345,COSM3404936	6-Jun	.		ENST00000262487	Transcript		T:0.0002		extracellular region		ENSG00000101230	g.chr20:13279761C>T	16213			LOW								--	--	1																																		TASP1_uc010zri.1_Intron	0,1	1			p.D350D	NM_080826	NP_543016	T:0		0,1	ISM1_HUMAN	ISM1	HGNC	B1AKI9	ISM1_HUMAN					6	1056	+			UPI00004A0D4C	350			AMOP.		SNV	ISM1,synonymous_variant,p.=,ENST00000262487,NM_080826.1;TASP1,intron_variant,,ENST00000539805,;	uc010gce.1	c.1050C>T	1056/2593	1	1			c.1050C>T						20	SNP	c.(1048-1050)GAC>GAT	2	2				0	Broad	isthmin 1 homolog precursor			13279761		0.647	ENSG00000101230	7724	g.chr20:13279761C>T		extracellular region								1.589326	KEEP	2	2	-1	19	23	2	2	-1	8.223053	19	23	0.097561	1	0	0	0	0	0	0	1	0	--	--		0	T			TASP1_uc010zri.1_Intron	221	GBM-28-5214-TP	p.D350D	C	GCTGGAAGGACGCCAGCGGGC	NM_080826	NP_543016	13279761	B1AKI9	ISM1_HUMAN	0			6	1056	+	T	T			Silent	350			AMOP.			
ISM2	0	broad.mit.edu	GRCh37	14	77948978	77948978	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4928-01	TCGA-76-4928-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342219.4:c.660C>T	p.Ala220=	p.A220=	ENST00000342219	NM_199296.2	220	gcC/gcT	0			1			A	A	uc001xtz.2	protein_coding	YES	CCDS9864.1			660/1716									skin(1)	1	c.(658-660)GCC>GCT			hmmpanther:PTHR10239:SF24,hmmpanther:PTHR10239	isthmin 2 homolog isoform 1				ENSP00000341490		7-Apr	8.25E-06							9.66E-05	rs777396047,COSM312045	7-Apr	.		ENST00000342219	Transcript				extracellular region		ENSG00000100593	g.chr14:77948978G>A	23176			LOW								--	--	1																																		ISM2_uc001xua.2_Intron|ISM2_uc001xty.2_Silent_p.A132A|ISM2_uc010tvl.1_Silent_p.A139A	0,1	1			p.A220A	NM_199296	NP_954993			0,1	ISM2_HUMAN	ISM2	HGNC	Q6H9L7	ISM2_HUMAN			G3XAI3_HUMAN		4	734	-			UPI000019950C	220					SNV	ISM2,synonymous_variant,p.=,ENST00000393684,;ISM2,synonymous_variant,p.=,ENST00000342219,NM_199296.2;ISM2,synonymous_variant,p.=,ENST00000412904,;ISM2,synonymous_variant,p.=,ENST00000429906,;ISM2,synonymous_variant,p.=,ENST00000554801,;ISM2,intron_variant,,ENST00000493585,NM_182509.3;ISM2,3_prime_UTR_variant,,ENST00000216481,;ISM2,3_prime_UTR_variant,,ENST00000471734,;ISM2,non_coding_transcript_exon_variant,,ENST00000487738,;ISM2,downstream_gene_variant,,ENST00000472744,;ISM2,downstream_gene_variant,,ENST00000480979,;	uc001xtz.2	c.660C>T	717/2971	1	1			c.660C>T						14	SNP	c.(658-660)GCC>GCT	59	59			skin(1)	1	Broad	isthmin 2 homolog isoform 1			77948978		0.622	ENSG00000100593	7725	g.chr14:77948978G>A		extracellular region								18.597331	KEEP	15	11	-1	122	104	15	11	-1	51.220484	122	104	0.104762	1	0	0	0	0	0	0	1	0	--	--		0	A			ISM2_uc001xua.2_Intron|ISM2_uc001xty.2_Silent_p.A132A|ISM2_uc010tvl.1_Silent_p.A139A	268	GBM-76-4928-TP	p.A220A	G	TCGACACCTCGGCCTGGGGGT	NM_199296	NP_954993	77948978	Q6H9L7	ISM2_HUMAN	0			4	734	-	A	A			Silent	220						
ISM2	145501		GRCh37	14	77942269	77942269	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000342219.4:c.1385G>A	p.Arg462His	p.R462H	ENST00000342219	NM_199296.2	462	cGc/cAc	0																																																																																																																																																																																																																																												
ISX	91464	broad.mit.edu	GRCh37	22	35480407	35480407	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308700.6:c.413G>A	p.Arg138Gln	p.R138Q	ENST00000308700	NM_001008494.1	138	cGg/cAg	0	A:0	A:0	1	A:0.0014		A	R/Q	uc003anj.2	protein_coding	YES	CCDS33640.1			413/738									ovary(3)|skin(2)	5	c.(412-414)CGG>CAG			PROSITE_profiles:PS50071,hmmpanther:PTHR24329:SF272,hmmpanther:PTHR24329,PROSITE_patterns:PS00027,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689	intestine-specific homeobox		A:0.001	A:0.0001	ENSP00000311492	A:0	4-Mar	0.000165		0.000173	0.000695		0.000135	0.00111	0.000123	rs184840753,COSM2149932	4-Mar	common_variant		ENST00000308700	Transcript		A:0.0004		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000175329	g.chr22:35480407G>A	28084			MODERATE		4.245	high	getma.org/?cm=msa&ty=f&p=ISX_HUMAN&rb=83&re=139&var=R138Q	getma.org/pdb.php?prot=ISX_HUMAN&from=83&to=139&var=R138Q	getma.org/?cm=var&var=hg19,22,35480407,G,A&fts=all	R138Q	--	--	1																																		ISX_uc011amg.1_Missense_Mutation_p.R126Q	0,1	1		probably_damaging(1)	p.R138Q	NM_001008494	NP_001008494	A:0	deleterious(0)	0,1	ISX_HUMAN	ISX	HGNC	Q2M1V0	ISX_HUMAN					3	1364	+			UPI00001BE8E5	138			Homeobox.		SNV	ISX,missense_variant,p.Arg138Gln,ENST00000308700,NM_001008494.1;ISX,missense_variant,p.Arg138Gln,ENST00000404699,;	uc003anj.2	c.413G>A	1365/3384	1	1			c.413G>A						22	SNP	c.(412-414)CGG>CAG	64	64			ovary(3)|skin(2)	5	Broad	intestine-specific homeobox			35480407		0.537	ENSG00000175329	7729	g.chr22:35480407G>A		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							39.024627	KEEP	10	6	-1	28	20	10	6	-1	41.859406	28	20	0.259259	1	0	0	0	0	1	0	0	0	--	--		0	A			ISX_uc011amg.1_Missense_Mutation_p.R126Q	26	GBM-06-0154-TP	p.R138Q	G	GCCAAGTGGCGGAAGCAGGAG	NM_001008494	NP_001008494	35480407	Q2M1V0	ISX_HUMAN	0			3	1364	+	A	A			Missense_Mutation	138			Homeobox.			
ISY1-RAB43	0	broad.mit.edu	GRCh37	3	128813923	128813923	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs145101068		TCGA-41-2572-01	TCGA-41-2572-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000418265.1:c.941C>T	p.Thr314Met	p.T314M	ENST00000418265	NM_001204890.1	314	aCg/aTg	0	A:0		1			A	T/M	uc003eln.1	protein_coding	YES	CCDS56276.1			941/996									lung(1)	1	c.(292-294)TAC>TAT				RAB43 protein			A:0.0001	ENSP00000411822		13-Dec									rs145101068,COSM3408211	13-Dec	.		ENST00000418265	Transcript			protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	ENSG00000261796	g.chr3:128813923G>A	42969			MODERATE								--	--	1																																		RAB43_uc003elo.1_Missense_Mutation_p.T314M|RAB43_uc010hsy.1_Silent_p.Y98Y	0,1	1		benign(0)	p.Y98Y	NM_198490	NP_940892		tolerated_low_confidence(1)	0,1		ISY1-RAB43	HGNC	Q86YS6	RAB43_HUMAN			H9XFA1_HUMAN		2	581	-			UPI00005A60DB	98					SNV	ISY1-RAB43,missense_variant,p.Thr314Met,ENST00000418265,NM_001204890.1;RAB43,synonymous_variant,p.=,ENST00000315150,NM_198490.2,NM_001204888.1;RAB43,synonymous_variant,p.=,ENST00000393304,NM_001204886.1;RAB43,synonymous_variant,p.=,ENST00000393305,NM_001204883.1;RAB43,synonymous_variant,p.=,ENST00000393307,NM_001204884.1;RAB43,synonymous_variant,p.=,ENST00000393308,NM_001204885.1;RAB43,synonymous_variant,p.=,ENST00000476465,NM_001204887.1;RAB43,downstream_gene_variant,,ENST00000457077,;	uc003eln.1	c.294C>T	1002/4868	2	2			c.294C>T						3	SNP	c.(292-294)TAC>TAT	45	45			lung(1)	1	Broad	RAB43 protein			128813923		0.572	ENSG00000261796	12735	g.chr3:128813923G>A	protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding							-18.565958	KEEP	1	2	-1	67	75	1	2	-1	7.405625	67	75	0.028302	1	0	0	0	0	0	0	1	0	--	--		0	A			RAB43_uc003elo.1_Missense_Mutation_p.T314M|RAB43_uc010hsy.1_Silent_p.Y98Y	251	GBM-41-2572-TP	p.Y98Y	G	TGGTGATGTCGTAGGCAAGGA	NM_198490	NP_940892	128813923	Q86YS6	RAB43_HUMAN	0			2	581	-	A	A			Silent	98						
ITFG3	0	broad.mit.edu	GRCh37	16	315011	315012	+	frameshift_variant	Frame_Shift_Del	DEL	GT	GT	-			TCGA-06-0878-01	TCGA-06-0878-01	GT	GT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399932.3:c.1650_1651del	p.Ser550ArgfsTer33	p.S550Rfs*33	ENST00000399932	NM_001284497.1	550	aGT/a	0			1			-	S/X	uc002cgf.2	protein_coding		CCDS10402.1			1649-1650/1659									central_nervous_system(1)	1	c.(1648-1650)AGTfs			hmmpanther:PTHR21419,hmmpanther:PTHR21419:SF7	integrin alpha FG-GAP repeat containing 3				ENSP00000301678		13/13										13/13	.		ENST00000301678	Transcript				integral to membrane		ENSG00000167930	g.chr16:315011_315012delGT	14163	1		HIGH								--	--	1																																		ITFG3_uc002cgg.2_Intron|ITFG3_uc010uud.1_Intron|ITFG3_uc002cgh.2_Frame_Shift_Del_p.S550fs					p.S550fs	NM_032039	NP_114428				ITFG3_HUMAN	ITFG3	HGNC	Q9H0X4	ITFG3_HUMAN			C9JR71_HUMAN,C9JJN3_HUMAN,C9J8V3_HUMAN,C9J3Y6_HUMAN,C9J1M4_HUMAN,C9IYB9_HUMAN		13	1844_1845	+		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)	UPI000006DF0D	550			Extracellular (Potential).		deletion	ITFG3,frameshift_variant,p.Ser550ArgfsTer33,ENST00000399932,NM_001284497.1;ITFG3,frameshift_variant,p.Ser550ArgfsTer33,ENST00000301678,NM_032039.2;ITFG3,frameshift_variant,p.Ser190ArgfsTer?,ENST00000424016,;ITFG3,intron_variant,,ENST00000442458,;ITFG3,intron_variant,,ENST00000600536,;ITFG3,intron_variant,,ENST00000301679,;ITFG3,intron_variant,,ENST00000450082,;RGS11,downstream_gene_variant,,ENST00000397770,;RGS11,downstream_gene_variant,,ENST00000316163,NM_183337.1,NM_003834.1;RGS11,downstream_gene_variant,,ENST00000359740,NM_001286485.1;ITFG3,downstream_gene_variant,,ENST00000420046,;ITFG3,downstream_gene_variant,,ENST00000453430,;ITFG3,downstream_gene_variant,,ENST00000449945,;ITFG3,downstream_gene_variant,,ENST00000421000,;ARHGDIG,upstream_gene_variant,,ENST00000435035,;ARHGDIG,upstream_gene_variant,,ENST00000412541,;ARHGDIG,upstream_gene_variant,,ENST00000464609,;RGS11,downstream_gene_variant,,ENST00000477143,;RGS11,downstream_gene_variant,,ENST00000168869,NM_001286486.1;ITFG3,downstream_gene_variant,,ENST00000468354,;	uc002cgf.2	c.1649_1650delGT	1793-1794/2901	5	5			c.1649_1650delGT						16	DEL	c.(1648-1650)AGTfs	38	38			central_nervous_system(1)	1	Broad	integrin alpha FG-GAP repeat containing 3			315012		0.649	ENSG00000167930	7735	g.chr16:315011_315012delGT		integral to membrane																					0.16	1	1	0	1	0	0	0	0	0	--	--		0	-			ITFG3_uc002cgg.2_Intron|ITFG3_uc010uud.1_Intron|ITFG3_uc002cgh.2_Frame_Shift_Del_p.S550fs	74	GBM-06-0878-TP	p.S550fs	GT	CGGTACCAGAGTGAGGCGTAGA	NM_032039	NP_114428	315011	Q9H0X4	ITFG3_HUMAN	0			13	1844_1845	+	-	-		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)	Frame_Shift_Del	550			Extracellular (Potential).			
ITFG3			GRCh37	16	315018	315018	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000399932.3:c.1656G>A	p.Ala552=	p.A552=	ENST00000399932	NM_001284497.1	552	gcG/gcA	0																																																																																																																																																																																																																																												
ITGA1	3672	broad.mit.edu	GRCh37	5	52183784	52183784	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01	TCGA-06-2567-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282588.6:c.911G>A	p.Arg304Gln	p.R304Q	ENST00000282588	NM_181501.1	304	cGg/cAg	0			1			A	R/Q	uc003jou.2	protein_coding	YES	CCDS3955.1			911/3540									ovary(2)|lung(1)	3	c.(910-912)CGG>CAG			PROSITE_profiles:PS50234,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF22,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300	integrin, alpha 1 precursor				ENSP00000282588		29-Aug	8.24E-06			0.000116					rs201172852,COSM2153076	29-Aug	.		ENST00000282588	Transcript			axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	ENSG00000213949	g.chr5:52183784G>A	6134			MODERATE		2.85	medium	getma.org/?cm=msa&ty=f&p=ITA1_HUMAN&rb=172&re=355&var=R304Q	getma.org/pdb.php?prot=ITA1_HUMAN&from=172&to=355&var=R304Q	getma.org/?cm=var&var=hg19,5,52183784,G,A&fts=all	R304Q	--	--	1																																		ITGA1_uc003jov.2_RNA	0,1	1		probably_damaging(1)	p.R304Q	NM_181501	NP_852478		deleterious(0)	0,1	ITA1_HUMAN	ITGA1	HGNC	P56199	ITA1_HUMAN					8	963	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	UPI00001A95E8	304			Extracellular (Potential).|VWFA.		SNV	ITGA1,missense_variant,p.Arg304Gln,ENST00000282588,NM_181501.1;ITGA1,downstream_gene_variant,,ENST00000513737,;CTD-2207L17.2,upstream_gene_variant,,ENST00000509174,;	uc003jou.2	c.911G>A	1369/10757	2	2			c.911G>A						5	SNP	c.(910-912)CGG>CAG	41	41			ovary(2)|lung(1)	3	Broad	integrin, alpha 1 precursor			52183784		0.388	ENSG00000213949	7736	g.chr5:52183784G>A	axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity							152.278068	KEEP	29	31	-1	51	45	29	31	-1	154.226948	51	45	0.369231	1	0	0	0	0	1	0	0	0	--	--		0	A			ITGA1_uc003jov.2_RNA	89	GBM-06-2567-TP	p.R304Q	G	AACATTCAACGGTTTTCCATA	NM_181501	NP_852478	52183784	P56199	ITA1_HUMAN	0			8	963	+	A	A		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	Missense_Mutation	304			Extracellular (Potential).|VWFA.			
ITGA1	0	broad.mit.edu	GRCh37	5	52145207	52145207	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01	TCGA-19-2631-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282588.6:c.70C>T	p.Arg24Cys	p.R24C	ENST00000282588	NM_181501.1	24	Cgc/Tgc	0			1			T	R/C	uc003jou.2	protein_coding	YES	CCDS3955.1			70/3540									ovary(2)|lung(1)	3	c.(70-72)CGC>TGC			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF22	integrin, alpha 1 precursor				ENSP00000282588		29-Feb	2.47E-05			0.000116		3.01E-05			rs764123493,COSM2156419	29-Feb	.		ENST00000282588	Transcript			axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	ENSG00000213949	g.chr5:52145207C>T	6134			MODERATE		0.75	neutral	getma.org/?cm=msa&ty=f&p=ITA1_HUMAN&rb=21&re=144&var=R24C	NA	getma.org/?cm=var&var=hg19,5,52145207,C,T&fts=all	R24C	--	--	1																																		ITGA1_uc003jov.2_RNA	0,1	1		benign(0.205)	p.R24C	NM_181501	NP_852478		tolerated(0.05)	0,1	ITA1_HUMAN	ITGA1	HGNC	P56199	ITA1_HUMAN					2	122	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	UPI00001A95E8	24					SNV	ITGA1,missense_variant,p.Arg24Cys,ENST00000282588,NM_181501.1;	uc003jou.2	c.70C>T	528/10757	2	2			c.70C>T						5	SNP	c.(70-72)CGC>TGC	21	21			ovary(2)|lung(1)	3	Broad	integrin, alpha 1 precursor			52145207		0.373	ENSG00000213949	7736	g.chr5:52145207C>T	axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity							69.951459	KEEP	12	18	-1	27	27	12	18	-1	71.435755	27	27	0.347222	1	0	0	0	0	1	0	0	0	--	--		0	T			ITGA1_uc003jov.2_RNA	167	GBM-19-2631-TP	p.R24C	C	AGTTGTTCTACGCTGCTGCGT	NM_181501	NP_852478	52145207	P56199	ITA1_HUMAN	0			2	122	+	T	T		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	Missense_Mutation	24						
ITGA10	8515	broad.mit.edu	GRCh37	1	145528649	145528649	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0876-01	TCGA-06-0876-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369304.3:c.446T>C	p.Phe149Ser	p.F149S	ENST00000369304	NM_003637.3	149	tTc/tCc	0			1			C	F/S	uc001eoa.2	protein_coding	YES	CCDS918.1			446/3504									lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8	c.(445-447)TTC>TCC			PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF26	integrin, alpha 10 precursor				ENSP00000358310		30-May									COSM3747786	30-May	.		ENST00000369304	Transcript			cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	ENSG00000143127	g.chr1:145528649T>C	6135			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=ITA10_HUMAN&rb=79&re=150&var=F149S	NA	getma.org/?cm=var&var=hg19,1,145528649,T,C&fts=all	F149S	--	--	1																																		NBPF10_uc001emp.3_Intron|ITGA10_uc001enz.1_3'UTR|ITGA10_uc010oyv.1_Intron|ITGA10_uc009wiw.2_Intron|ITGA10_uc010oyw.1_Missense_Mutation_p.F94S	1	1		probably_damaging(0.933)	p.F149S	NM_003637	NP_003628		deleterious(0)	1	ITA10_HUMAN	ITGA10	HGNC	O75578	ITA10_HUMAN					5	522	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		UPI000013D8D1	149			FG-GAP 2.|Extracellular (Potential).		SNV	ITGA10,missense_variant,p.Phe149Ser,ENST00000369304,NM_003637.3;ITGA10,intron_variant,,ENST00000538811,;ITGA10,intron_variant,,ENST00000539363,;PEX11B,downstream_gene_variant,,ENST00000369306,NM_003846.2;PEX11B,downstream_gene_variant,,ENST00000537888,NM_001184795.1;PEX11B,downstream_gene_variant,,ENST00000428634,;ITGA10,upstream_gene_variant,,ENST00000481236,;ITGA10,non_coding_transcript_exon_variant,,ENST00000468261,;	uc001eoa.2	c.446T>C	621/5269	3	3			c.446T>C						1	SNP	c.(445-447)TTC>TCC	52	52			lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8	Broad	integrin, alpha 10 precursor			145528649		0.572	ENSG00000143127	7737	g.chr1:145528649T>C	cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			450			450	1.53506	KEEP	19	3	-1	41	24	19	3	-1	9.618986	41	24	0.151515	1	0	0	0	0	1	0	0	0	--	--		0	C			NBPF10_uc001emp.3_Intron|ITGA10_uc001enz.1_3'UTR|ITGA10_uc010oyv.1_Intron|ITGA10_uc009wiw.2_Intron|ITGA10_uc010oyw.1_Missense_Mutation_p.F94S	72	GBM-06-0876-TP	p.F149S	T	GATGCTTCATTCCAGCCTCAG	NM_003637	NP_003628	145528649	O75578	ITA10_HUMAN	0			5	522	+	C	C	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Missense_Mutation	149			FG-GAP 2.|Extracellular (Potential).			
ITGA10	0	broad.mit.edu	GRCh37	1	145534987	145534988	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-26-5134-01	TCGA-26-5134-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369304.3:c.1891dupG	p.Val631GlyfsTer37	p.V631Gfs*37	ENST00000369304	NM_003637.3	630	-/G	0			1			G	-/X	uc001eoa.2	protein_coding	YES	CCDS918.1			1890-1891/3504									lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8	c.(1888-1893)GCTGTGfs			Gene3D:3nigC00,Prints_domain:PR01185,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF26,Low_complexity_(Seg):seg,SMART_domains:SM00191,Superfamily_domains:SSF69318	integrin, alpha 10 precursor				ENSP00000358310		15/30										15/30	.		ENST00000369304	Transcript			cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	ENSG00000143127	g.chr1:145534987_145534988insG	6135	1		HIGH								--	--	1																																		NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Frame_Shift_Ins_p.A499fs|ITGA10_uc009wiw.2_Frame_Shift_Ins_p.A487fs|ITGA10_uc010oyw.1_Frame_Shift_Ins_p.A575fs		1			p.A630fs	NM_003637	NP_003628				ITA10_HUMAN	ITGA10	HGNC	O75578	ITA10_HUMAN					15	1966_1967	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		UPI000013D8D1	630_631			Extracellular (Potential).|FG-GAP 7.		insertion	ITGA10,frameshift_variant,p.Val631GlyfsTer37,ENST00000369304,NM_003637.3;ITGA10,frameshift_variant,p.Val500GlyfsTer37,ENST00000538811,;ITGA10,frameshift_variant,p.Val488GlyfsTer37,ENST00000539363,;ITGA10,downstream_gene_variant,,ENST00000481236,;	uc001eoa.2	c.1890_1891insG	2065-2066/5269	5	5			c.1890_1891insG						1	INS	c.(1888-1893)GCTGTGfs	6	6			lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8	Broad	integrin, alpha 10 precursor			145534988		0.49	ENSG00000143127	7737	g.chr1:145534987_145534988insG	cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			450			450														0.02	1	0	0	1	1	0	0	0	0	--	--		0	G			NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Frame_Shift_Ins_p.A499fs|ITGA10_uc009wiw.2_Frame_Shift_Ins_p.A487fs|ITGA10_uc010oyw.1_Frame_Shift_Ins_p.A575fs	183	GBM-26-5134-TP	p.A630fs	-	TCGATGTGGCTGTGGGTGCCCA	NM_003637	NP_003628	145534987	O75578	ITA10_HUMAN	0			15	1966_1967	+	G	G	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Frame_Shift_Ins	630_631			Extracellular (Potential).|FG-GAP 7.			
ITGA11	0	broad.mit.edu	GRCh37	15	68612685	68612685	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-2523-01	TCGA-27-2523-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315757.7:c.2454C>T	p.Ser818=	p.S818=	ENST00000315757	NM_001004439.1	818	tcC/tcT	0	A:0		1			A	S	uc002ari.2	protein_coding	YES	CCDS45291.1			2454/3567									kidney(2)|pancreas(1)	3	c.(2452-2454)TCC>TCT			Gene3D:2.60.40.1510,Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF21	integrin, alpha 11 precursor	Tirofiban(DB00775)		A:0.0001	ENSP00000327290		20/30	4.13E-05		0.000143	0.000709					rs376522259,COSM1374260	20/30	common_variant		ENST00000315757	Transcript			cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	ENSG00000137809	g.chr15:68612685G>A	6136			LOW								--	--	1																																		ITGA11_uc010bib.2_Silent_p.S818S	0,1	1			p.S818S	NM_001004439	NP_001004439			0,1	ITA11_HUMAN	ITGA11	HGNC	Q9UKX5	ITA11_HUMAN					20	2541	-			UPI00001FE74D	818			Extracellular (Potential).		SNV	ITGA11,synonymous_variant,p.=,ENST00000423218,;ITGA11,synonymous_variant,p.=,ENST00000315757,NM_001004439.1;	uc002ari.2	c.2454C>T	2541/5001	1	1			c.2454C>T						15	SNP	c.(2452-2454)TCC>TCT	61	61			kidney(2)|pancreas(1)	3	Broad	integrin, alpha 11 precursor		Tirofiban(DB00775)	68612685		0.592	ENSG00000137809	7738	g.chr15:68612685G>A	cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity							24.227906	KEEP	2	5	-1	1	3	2	5	-1	24.407794	1	3	0.636364	1	0	0	0	0	0	0	1	0	--	--		0	A			ITGA11_uc010bib.2_Silent_p.S818S	201	GBM-27-2523-TP	p.S818S	G	GCGTGTATGCGGAGCAGTCCT	NM_001004439	NP_001004439	68612685	Q9UKX5	ITA11_HUMAN	0			20	2541	-	A	A			Silent	818			Extracellular (Potential).			
ITGA11	0	broad.mit.edu	GRCh37	15	68641185	68641185	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-76-6282-01	TCGA-76-6282-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315757.7:c.1114delT	p.Ser372ProfsTer24	p.S372Pfs*24	ENST00000315757	NM_001004439.1	372	Tcc/cc	0			1			-	S/X	uc002ari.2	protein_coding	YES	CCDS45291.1			1114/3567									kidney(2)|pancreas(1)	3	c.(1114-1116)TCCfs			Gene3D:3nigC00,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF21,Superfamily_domains:SSF69318	integrin, alpha 11 precursor	Tirofiban(DB00775)			ENSP00000327290		30-Oct										30-Oct	.		ENST00000315757	Transcript			cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	ENSG00000137809	g.chr15:68641185delA	6136			HIGH								--	--	1																																		ITGA11_uc010bib.2_Frame_Shift_Del_p.S372fs		1			p.S372fs	NM_001004439	NP_001004439				ITA11_HUMAN	ITGA11	HGNC	Q9UKX5	ITA11_HUMAN					10	1201	-			UPI00001FE74D	372			FG-GAP 3.|Extracellular (Potential).		deletion	ITGA11,frameshift_variant,p.Ser372ProfsTer24,ENST00000423218,;ITGA11,frameshift_variant,p.Ser372ProfsTer24,ENST00000315757,NM_001004439.1;ITGA11,downstream_gene_variant,,ENST00000562826,;	uc002ari.2	c.1114delT	1201/5001	5	5			c.1114delT						15	DEL	c.(1114-1116)TCCfs	34	34			kidney(2)|pancreas(1)	3	Broad	integrin, alpha 11 precursor		Tirofiban(DB00775)	68641185		0.562	ENSG00000137809	7738	g.chr15:68641185delA	cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity																				0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			ITGA11_uc010bib.2_Frame_Shift_Del_p.S372fs	278	GBM-76-6282-TP	p.S372fs	A	ACGTGCGAGGAAAAGCCCGTC	NM_001004439	NP_001004439	68641185	Q9UKX5	ITA11_HUMAN	0			10	1201	-	-	-			Frame_Shift_Del	372			FG-GAP 3.|Extracellular (Potential).			
ITGA2	0	broad.mit.edu	GRCh37	5	52344242	52344242	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs148042733		TCGA-76-6285-01	TCGA-76-6285-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296585.5:c.437C>T	p.Thr146Met	p.T146M	ENST00000296585	NM_002203.3	146	aCg/aTg	0	T:0.0002		1			T	T/M	uc003joy.2	protein_coding	YES	CCDS3957.1			437/3546									lung(1)	1	c.(436-438)ACG>ATG			Superfamily_domains:SSF69318,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF23,PROSITE_profiles:PS51470	integrin alpha 2 precursor			T:0	ENSP00000296585		30-May	9.06E-05	9.61E-05				7.49E-05		0.000303	rs148042733,COSM3410305,COSM3410306	30-May	.		ENST00000296585	Transcript	1		axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	ENSG00000164171	g.chr5:52344242C>T	6137			MODERATE		2.455	medium	getma.org/?cm=msa&ty=f&p=ITA2_HUMAN&rb=12&re=155&var=T146M	getma.org/pdb.php?prot=ITA2_HUMAN&from=12&to=155&var=T146M	getma.org/?cm=var&var=hg19,5,52344242,C,T&fts=all	T146M	--	--	1																																		ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.T70M|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	0,1,1	1		probably_damaging(0.999)	p.T146M	NM_002203	NP_002194		deleterious(0.01)	0,1,1	ITA2_HUMAN	ITGA2	HGNC	P17301	ITA2_HUMAN			Q71V33_HUMAN,G3LGR5_HUMAN,F1C629_HUMAN,F1C627_HUMAN,E7ESP4_HUMAN		5	580	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	UPI0000169C36	146			Extracellular (Potential).|FG-GAP 2.		SNV	ITGA2,missense_variant,p.Thr146Met,ENST00000296585,NM_002203.3;ITGA2,missense_variant,p.Thr146Met,ENST00000503810,;ITGA2,missense_variant,p.Thr146Met,ENST00000509960,;ITGA2,missense_variant,p.Thr146Met,ENST00000510722,;ITGA2,missense_variant,p.Thr146Met,ENST00000509814,;ITGA2,3_prime_UTR_variant,,ENST00000513685,;	uc003joy.2	c.437C>T	580/7869	1	1			c.437C>T						5	SNP	c.(436-438)ACG>ATG	13	13			lung(1)	1	Broad	integrin alpha 2 precursor			52344242		0.438	ENSG00000164171	7739	g.chr5:52344242C>T	axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity							74.825871	KEEP	16	16	-1	25	33	16	16	-1	76.500519	25	33	0.342105	1	0	0	0	0	1	0	0	0	--	--		0	T			ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.T70M|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	280	GBM-76-6285-TP	p.T146M	C	TATTACACAACGGGTGTGTGT	NM_002203	NP_002194	52344242	P17301	ITA2_HUMAN	0			5	580	+	T	T		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	Missense_Mutation	146			Extracellular (Potential).|FG-GAP 2.			
ITGA2B	0	broad.mit.edu	GRCh37	17	42457990	42457990	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01	TCGA-76-4927-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262407.5:c.1417G>A	p.Ala473Thr	p.A473T	ENST00000262407	NM_000419.3	473	Gcc/Acc	0			1			T	A/T	uc002igt.1	protein_coding	YES	CCDS32665.1			1417/3120									ovary(2)|lung(1)	3	c.(1417-1419)GCC>ACC			Gene3D:3nigC00,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF73,SMART_domains:SM00191,Superfamily_domains:SSF69318	integrin alpha 2b preproprotein	Tirofiban(DB00775)			ENSP00000262407		14/30									COSM472883	14/30	.		ENST00000262407	Transcript	1		axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	ENSG00000005961	g.chr17:42457990C>T	6138			MODERATE		1.645	low	getma.org/?cm=msa&ty=f&p=ITA2B_HUMAN&rb=363&re=480&var=A473T	getma.org/pdb.php?prot=ITA2B_HUMAN&from=363&to=480&var=A473T	getma.org/?cm=var&var=hg19,17,42457990,C,T&fts=all	A473T	--	--	1																																		ITGA2B_uc002igu.1_5'UTR	1	1		benign(0.446)	p.A473T	NM_000419	NP_000410		deleterious(0)	1	ITA2B_HUMAN	ITGA2B	HGNC	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	Q6LDK5_HUMAN,I6XCH0_HUMAN,F1C626_HUMAN		14	1449	-		Prostate(33;0.0181)	UPI00001868B8	473			Extracellular (Potential).|FG-GAP 7.		SNV	ITGA2B,missense_variant,p.Ala473Thr,ENST00000262407,NM_000419.3;ITGA2B,missense_variant,p.Ala473Thr,ENST00000353281,;ITGA2B,3_prime_UTR_variant,,ENST00000377068,;ITGA2B,upstream_gene_variant,,ENST00000587295,;ITGA2B,non_coding_transcript_exon_variant,,ENST00000592462,;ITGA2B,non_coding_transcript_exon_variant,,ENST00000592226,;ITGA2B,downstream_gene_variant,,ENST00000589645,;ITGA2B,downstream_gene_variant,,ENST00000591990,;ITGA2B,downstream_gene_variant,,ENST00000592944,;ITGA2B,downstream_gene_variant,,ENST00000592253,;ITGA2B,downstream_gene_variant,,ENST00000592075,;	uc002igt.1	c.1417G>A	1449/3333	2	2			c.1417G>A						17	SNP	c.(1417-1419)GCC>ACC	30	30			ovary(2)|lung(1)	3	Broad	integrin alpha 2b preproprotein		Tirofiban(DB00775)	42457990		0.592	ENSG00000005961	7740	g.chr17:42457990C>T	axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity							-34.938761	KEEP	0	5	-1	93	103	0	5	-1	6.545886	93	103	0.024242	1	0	0	0	0	1	0	0	0	--	--		0	T			ITGA2B_uc002igu.1_5'UTR	267	GBM-76-4927-TP	p.A473T	C	ACCTGGTTGGCCCCGTAAGCT	NM_000419	NP_000410	42457990	P08514	ITA2B_HUMAN	0		BRCA - Breast invasive adenocarcinoma(366;0.191)	14	1449	-	T	T		Prostate(33;0.0181)	Missense_Mutation	473			Extracellular (Potential).|FG-GAP 7.			
ITGA3	0	broad.mit.edu	GRCh37	17	48156217	48156217	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2638-01	TCGA-32-2638-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320031.8:c.2327G>A	p.Gly776Glu	p.G776E	ENST00000320031	NM_002204.2	776	gGg/gAg	0			1			A	G/E	uc010dbl.2	protein_coding		CCDS11558.1			2327/3156									ovary(2)|pancreas(1)	3	c.(2326-2328)GGG>GAG			hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF75,Pfam_domain:PF08441,Gene3D:1jv2A04,Superfamily_domains:SSF69179	integrin alpha 3 isoform a precursor				ENSP00000315190		19/26									COSM3402986,COSM3402987	19/26	.		ENST00000320031	Transcript	1		blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	ENSG00000005884	g.chr17:48156217G>A	6139			MODERATE		2.14	medium	getma.org/?cm=msa&ty=f&p=ITA3_HUMAN&rb=462&re=916&var=G776E	getma.org/pdb.php?prot=ITA3_HUMAN&from=462&to=916&var=G776E	getma.org/?cm=var&var=hg19,17,48156217,G,A&fts=all	G776E	--	--	1																																		ITGA3_uc010dbm.2_Missense_Mutation_p.G776E	1,1			possibly_damaging(0.672)	p.G776E	NM_002204	NP_002195		deleterious(0.01)	1,1	ITA3_HUMAN	ITGA3	HGNC	P26006	ITA3_HUMAN			B4E0H8_HUMAN		19	2791	+			UPI000002AC1A	776			Extracellular (Potential).		SNV	ITGA3,missense_variant,p.Gly776Glu,ENST00000320031,NM_002204.2,NM_005501.2;ITGA3,missense_variant,p.Gly776Glu,ENST00000007722,;ITGA3,missense_variant,p.Gly155Glu,ENST00000506827,;ITGA3,downstream_gene_variant,,ENST00000544892,;ITGA3,downstream_gene_variant,,ENST00000512553,;ITGA3,non_coding_transcript_exon_variant,,ENST00000505306,;ITGA3,non_coding_transcript_exon_variant,,ENST00000515147,;ITGA3,non_coding_transcript_exon_variant,,ENST00000507771,;ITGA3,downstream_gene_variant,,ENST00000506401,;ITGA3,downstream_gene_variant,,ENST00000505552,;ITGA3,downstream_gene_variant,,ENST00000505612,;ITGA3,downstream_gene_variant,,ENST00000510809,;ITGA3,upstream_gene_variant,,ENST00000504417,;	uc010dbl.2	c.2327G>A	2657/4888	2	2			c.2327G>A						17	SNP	c.(2326-2328)GGG>GAG	30	30			ovary(2)|pancreas(1)	3	Broad	integrin alpha 3 isoform a precursor			48156217		0.582	ENSG00000005884	7741	g.chr17:48156217G>A	blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity							170.095199	KEEP	43	21	-1	76	56	43	21	-1	173.767625	76	56	0.343195	1	0	0	0	0	1	0	0	0	--	--		0	A			ITGA3_uc010dbm.2_Missense_Mutation_p.G776E	242	GBM-32-2638-TP	p.G776E	G	AGCTTCTTTGGGGGGACAGTG	NM_002204	NP_002195	48156217	P26006	ITA3_HUMAN	0			19	2791	+	A	A			Missense_Mutation	776			Extracellular (Potential).			
ITGA4	3676	broad.mit.edu	GRCh37	2	182358131	182358131	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397033.2:c.1233G>A	p.Ser411=	p.S411=	ENST00000397033	NM_000885.4	411	tcG/tcA	0	A:0		1			A	S	uc002unu.2	protein_coding	YES	CCDS42788.1			1233/3099									ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	c.(1231-1233)TCG>TCA			Gene3D:3nigC00,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF78,SMART_domains:SM00191,Superfamily_domains:SSF69318	integrin alpha 4 precursor	Natalizumab(DB00108)		A:0.0001	ENSP00000380227		28-Nov	2.48E-05					3.00E-05	0.00112		rs368002151,COSM2149628	28-Nov	.		ENST00000397033	Transcript			blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	ENSG00000115232	g.chr2:182358131G>A	6140			LOW								--	--	1																																			0,1	1			p.S411S	NM_000885	NP_000876			0,1	ITA4_HUMAN	ITGA4	HGNC	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Q8IUA2_HUMAN,E7EP60_HUMAN		11	1996	+			UPI000052D444	411			FG-GAP 6.|Extracellular (Potential).		SNV	ITGA4,synonymous_variant,p.=,ENST00000397033,NM_000885.4;ITGA4,synonymous_variant,p.=,ENST00000233573,;ITGA4,non_coding_transcript_exon_variant,,ENST00000473002,;ITGA4,upstream_gene_variant,,ENST00000490435,;	uc002unu.2	c.1233G>A	1663/4189	1	1			c.1233G>A						2	SNP	c.(1231-1233)TCG>TCA	60	60			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	Broad	integrin alpha 4 precursor		Natalizumab(DB00108)	182358131		0.368	ENSG00000115232	7742	g.chr2:182358131G>A	blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity							121.900249	KEEP	30	14	-1	27	21	30	14	-1	121.96345	27	21	0.470588	1	0	0	0	0	0	0	1	0	--	--		0	A				18	GBM-06-0137-TP	p.S411S	G	ATGGGATCTCGTCAACCTTCT	NM_000885	NP_000876	182358131	P13612	ITA4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		11	1996	+	A	A			Silent	411			FG-GAP 6.|Extracellular (Potential).			
ITGA4	3676	broad.mit.edu	GRCh37	2	182360642	182360642	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0184-01	TCGA-06-0184-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397033.2:c.1518C>T	p.Gly506=	p.G506=	ENST00000397033	NM_000885.4	506	ggC/ggT	0			1			T	G	uc002unu.2	protein_coding	YES	CCDS42788.1			1518/3099									ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	c.(1516-1518)GGC>GGT			Gene3D:1jv2A02,Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF78,Superfamily_domains:SSF69179	integrin alpha 4 precursor	Natalizumab(DB00108)			ENSP00000380227		14/28	8.27E-06					1.50E-05			rs200212723,COSM2150440	14/28	.		ENST00000397033	Transcript			blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	ENSG00000115232	g.chr2:182360642C>T	6140			LOW								--	--	1																																		ITGA4_uc010frj.1_5'Flank	0,1	1			p.G506G	NM_000885	NP_000876			0,1	ITA4_HUMAN	ITGA4	HGNC	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Q8IUA2_HUMAN,E7EP60_HUMAN		14	2281	+			UPI000052D444	506			Extracellular (Potential).		SNV	ITGA4,synonymous_variant,p.=,ENST00000397033,NM_000885.4;ITGA4,synonymous_variant,p.=,ENST00000233573,;ITGA4,upstream_gene_variant,,ENST00000476824,;ITGA4,upstream_gene_variant,,ENST00000490435,;ITGA4,downstream_gene_variant,,ENST00000473002,;	uc002unu.2	c.1518C>T	1948/4189	1	1			c.1518C>T						2	SNP	c.(1516-1518)GGC>GGT	14	14			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	Broad	integrin alpha 4 precursor		Natalizumab(DB00108)	182360642		0.428	ENSG00000115232	7742	g.chr2:182360642C>T	blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity							143.132486	KEEP	33	40	-1	108	126	33	40	-1	159.159972	108	126	0.238281	1	0	0	0	0	0	0	1	0	--	--		0	T			ITGA4_uc010frj.1_5'Flank	39	GBM-06-0184-TP	p.G506G	C	CATATAAGGGCAAGGAAGTTC	NM_000885	NP_000876	182360642	P13612	ITA4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		14	2281	+	T	T			Silent	506			Extracellular (Potential).			
ITGA4	3676	broad.mit.edu	GRCh37	2	182374515	182374515	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0645-01	TCGA-06-0645-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397033.2:c.1826A>C	p.Lys609Thr	p.K609T	ENST00000397033	NM_000885.4	609	aAa/aCa	0			1			C	K/T	uc002unu.2	protein_coding	YES	CCDS42788.1			1826/3099									ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	c.(1825-1827)AAA>ACA			Gene3D:1jv2A02,Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF78,Superfamily_domains:SSF69179	integrin alpha 4 precursor	Natalizumab(DB00108)			ENSP00000380227		16/28									COSM2151258	16/28	.		ENST00000397033	Transcript			blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	ENSG00000115232	g.chr2:182374515A>C	6140			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=ITA4_HUMAN&rb=463&re=909&var=K609T	getma.org/pdb.php?prot=ITA4_HUMAN&from=463&to=909&var=K609T	getma.org/?cm=var&var=hg19,2,182374515,A,C&fts=all	K609T	--	--	1																																		ITGA4_uc010frj.1_Missense_Mutation_p.K91T	1	1		probably_damaging(0.932)	p.K609T	NM_000885	NP_000876		tolerated(0.08)	1	ITA4_HUMAN	ITGA4	HGNC	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Q8IUA2_HUMAN,E7EP60_HUMAN		16	2589	+			UPI000052D444	609			SG1.|Extracellular (Potential).		SNV	ITGA4,missense_variant,p.Lys609Thr,ENST00000397033,NM_000885.4;ITGA4,missense_variant,p.Lys609Thr,ENST00000233573,;ITGA4,non_coding_transcript_exon_variant,,ENST00000476824,;ITGA4,non_coding_transcript_exon_variant,,ENST00000490435,;	uc002unu.2	c.1826A>C	2256/4189	3	3			c.1826A>C						2	SNP	c.(1825-1827)AAA>ACA	16	16			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	Broad	integrin alpha 4 precursor		Natalizumab(DB00108)	182374515		0.333	ENSG00000115232	7742	g.chr2:182374515A>C	blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity							61.197694	KEEP	12	13	-1	27	31	12	13	-1	64.171721	27	31	0.279412	1	0	0	0	0	1	0	0	0	--	--		0	C			ITGA4_uc010frj.1_Missense_Mutation_p.K91T	59	GBM-06-0645-TP	p.K609T	A	AAGAAAGAAAAAGACATAATG	NM_000885	NP_000876	182374515	P13612	ITA4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		16	2589	+	C	C			Missense_Mutation	609			SG1.|Extracellular (Potential).			
ITGA4	0	broad.mit.edu	GRCh37	2	182360569	182360569	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397033.2:c.1445C>T	p.Thr482Met	p.T482M	ENST00000397033	NM_000885.4	482	aCg/aTg	0			1			T	T/M	uc002unu.2	protein_coding	YES	CCDS42788.1			1445/3099									ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	c.(1444-1446)ACG>ATG			Gene3D:1jv2A02,Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF78,SMART_domains:SM00191,Superfamily_domains:SSF69179	integrin alpha 4 precursor	Natalizumab(DB00108)			ENSP00000380227		14/28	1.66E-05					1.50E-05		6.06E-05	rs758516673,COSM3407377	14/28	.		ENST00000397033	Transcript			blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	ENSG00000115232	g.chr2:182360569C>T	6140			MODERATE		2.16	medium	getma.org/?cm=msa&ty=f&p=ITA4_HUMAN&rb=463&re=909&var=T482M	getma.org/pdb.php?prot=ITA4_HUMAN&from=463&to=909&var=T482M	getma.org/?cm=var&var=hg19,2,182360569,C,T&fts=all	T482M	--	--	1																																		ITGA4_uc010frj.1_5'Flank	0,1	1		probably_damaging(1)	p.T482M	NM_000885	NP_000876		deleterious(0.02)	0,1	ITA4_HUMAN	ITGA4	HGNC	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Q8IUA2_HUMAN,E7EP60_HUMAN		14	2208	+			UPI000052D444	482			Extracellular (Potential).		SNV	ITGA4,missense_variant,p.Thr482Met,ENST00000397033,NM_000885.4;ITGA4,missense_variant,p.Thr482Met,ENST00000233573,;ITGA4,upstream_gene_variant,,ENST00000476824,;ITGA4,upstream_gene_variant,,ENST00000490435,;ITGA4,downstream_gene_variant,,ENST00000473002,;	uc002unu.2	c.1445C>T	1875/4189	2	2			c.1445C>T						2	SNP	c.(1444-1446)ACG>ATG	32	32			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	Broad	integrin alpha 4 precursor		Natalizumab(DB00108)	182360569		0.388	ENSG00000115232	7742	g.chr2:182360569C>T	blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity							199.275135	KEEP	32	43	-1	69	88	32	43	-1	204.949766	69	88	0.327103	1	0	0	0	0	1	0	0	0	--	--		0	T			ITGA4_uc010frj.1_5'Flank	207	GBM-28-1753-TP	p.T482M	C	GTAAATAGAACGAAATTTGAC	NM_000885	NP_000876	182360569	P13612	ITA4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		14	2208	+	T	T			Missense_Mutation	482			Extracellular (Potential).			
ITGA4	3676		GRCh37	2	182386969	182386969	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000397033.2:c.1974G>A	p.Met658Ile	p.M658I	ENST00000397033	NM_000885.4	658	atG/atA	0																																																																																																																																																																																																																																												
ITGA4	3676		GRCh37	2	182358131	182358131	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000397033.2:c.1233G>A	p.Ser411=	p.S411=	ENST00000397033	NM_000885.4	411	tcG/tcA	0																																																																																																																																																																																																																																												
ITGA5	3678		GRCh37	12	54793512	54793512	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000293379.4:c.2758C>T	p.Arg920Cys	p.R920C	ENST00000293379	NM_002205.2	920	Cgc/Tgc	0																																																																																																																																																																																																																																												
ITGA6	0	broad.mit.edu	GRCh37	2	173338970	173338970	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0813-01	TCGA-14-0813-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000442250.1:c.1080G>A	p.Ala360=	p.A360=	ENST00000442250		360	gcG/gcA	0			1			A	A	uc002uhp.1	protein_coding					1080/3390									ovary(1)|lung(1)	2	c.(961-963)GCG>GCA			PROSITE_profiles:PS51470,hmmpanther:PTHR23220:SF9,hmmpanther:PTHR23220,Gene3D:3nigC00,SMART_domains:SM00191,Superfamily_domains:SSF69318,Prints_domain:PR01185	integrin alpha chain, alpha 6 isoform a				ENSP00000406694		26-Jul	8.24E-06							6.06E-05	rs745506887,COSM2154678,COSM3407057,COSM2154677	26-Jul	.		ENST00000442250	Transcript	1		blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	ENSG00000091409	g.chr2:173338970G>A	6142			LOW								--	--	1																																		ITGA6_uc010fqk.1_Silent_p.A207A|ITGA6_uc010zdy.1_Silent_p.A202A|ITGA6_uc002uho.1_Silent_p.A321A|ITGA6_uc010fqm.1_5'Flank	0,1,1,1				p.A321A	NM_001079818	NP_001073286			0,1,1,1	ITA6_HUMAN	ITGA6	HGNC	P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)				6	1166	+			UPI000013D4BA	360			FG-GAP 5.|Extracellular (Potential).		SNV	ITGA6,synonymous_variant,p.=,ENST00000375221,;ITGA6,synonymous_variant,p.=,ENST00000264106,;ITGA6,synonymous_variant,p.=,ENST00000343713,;ITGA6,synonymous_variant,p.=,ENST00000264107,NM_000210.2;ITGA6,synonymous_variant,p.=,ENST00000409080,NM_001079818.1;ITGA6,synonymous_variant,p.=,ENST00000409532,;ITGA6,synonymous_variant,p.=,ENST00000442250,;ITGA6,synonymous_variant,p.=,ENST00000458358,;ITGA6,synonymous_variant,p.=,ENST00000412899,;ITGA6,downstream_gene_variant,,ENST00000497107,;	uc002uhp.1	c.963G>A	1080/3390	2	2			c.963G>A						2	SNP	c.(961-963)GCG>GCA	44	44			ovary(1)|lung(1)	2	Broad	integrin alpha chain, alpha 6 isoform a			173338970		0.483	ENSG00000091409	7744	g.chr2:173338970G>A	blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity							79.159462	KEEP	16	10	-1	30	21	16	10	-1	80.205782	30	21	0.367647	1	0	0	0	0	0	0	1	0	--	--		0	A			ITGA6_uc010fqk.1_Silent_p.A207A|ITGA6_uc010zdy.1_Silent_p.A202A|ITGA6_uc002uho.1_Silent_p.A321A|ITGA6_uc010fqm.1_5'Flank	138	GBM-14-0813-TP	p.A321A	G	ATGATGTGGCGGTGGTGGACC	NM_001079818	NP_001073286	173338970	P23229	ITA6_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		6	1166	+	A	A			Silent	360			FG-GAP 5.|Extracellular (Potential).			
ITGA6	3655		GRCh37	2	173356005	173356005	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000409080.1:c.2835C>T	p.Asp945=	p.D945=	ENST00000409080	NM_001079818.1	945	gaC/gaT	0																																																																																																																																																																																																																																												
ITGA7	3679	broad.mit.edu	GRCh37	12	56078847	56078847	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-0033-01	TCGA-02-0033-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000553804.1:c.3421G>A	p.Ala1141Thr	p.A1141T	ENST00000553804	NM_001144996.1	1141	Gcc/Acc	0			1			T	A/T	uc001shh.2	protein_coding					3541/3546									ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	c.(3421-3423)GCC>ACC				integrin alpha 7 isoform 1 precursor				ENSP00000452387		26/26	1.65E-05			0.000127		1.73E-05			rs772419744,COSM941356,COSM941355	26/26	.		ENST00000555728	Transcript	1		cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	ENSG00000135424	g.chr12:56078847C>T	6143			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=ITA7_HUMAN&rb=1007&re=1181&var=A1181T	NA	getma.org/?cm=var&var=hg19,12,56078847,C,T&fts=all	A1181T	--	--	1																																		ITGA7_uc001shg.2_Missense_Mutation_p.A1137T|ITGA7_uc010sps.1_Missense_Mutation_p.A1044T|ITGA7_uc001shf.2_3'UTR|ITGA7_uc009znw.2_Missense_Mutation_p.A384T|ITGA7_uc009znx.2_Missense_Mutation_p.A1018T	0,1,1			benign(0.017)	p.A1141T	NM_001144996	NP_001138468		deleterious_low_confidence(0)	0,1,1	ITA7_HUMAN	ITGA7	HGNC	Q13683	ITA7_HUMAN					25	3641	-			UPI000013CF94	1181			Cytoplasmic (Potential).		SNV	ITGA7,missense_variant,p.Ala1137Thr,ENST00000257879,NM_002206.2;ITGA7,missense_variant,p.Ala1131Thr,ENST00000347027,;ITGA7,missense_variant,p.Ala1141Thr,ENST00000553804,NM_001144996.1;ITGA7,missense_variant,p.Ala1181Thr,ENST00000555728,;ITGA7,missense_variant,p.Ala1044Thr,ENST00000452168,NM_001144997.1;ITGA7,missense_variant,p.Ala205Thr,ENST00000557555,;ITGA7,3_prime_UTR_variant,,ENST00000257880,;ITGA7,3_prime_UTR_variant,,ENST00000394230,;ITGA7,3_prime_UTR_variant,,ENST00000394229,;METTL7B,downstream_gene_variant,,ENST00000394252,NM_152637.2;ITGA7,3_prime_UTR_variant,,ENST00000554327,;	uc001shh.2	c.3421G>A	3570/3930	2	2			c.3421G>A						12	SNP	c.(3421-3423)GCC>ACC	24	24			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Broad	integrin alpha 7 isoform 1 precursor			56078847		0.697	ENSG00000135424	7745	g.chr12:56078847C>T	cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			261			261	10.765712	KEEP	4	3	-1	7	15	4	3	-1	12.081122	7	15	0.238095	1	0	0	0	0	1	0	0	0	--	--		0	T			ITGA7_uc001shg.2_Missense_Mutation_p.A1137T|ITGA7_uc010sps.1_Missense_Mutation_p.A1044T|ITGA7_uc001shf.2_3'UTR|ITGA7_uc009znw.2_Missense_Mutation_p.A384T|ITGA7_uc009znx.2_Missense_Mutation_p.A1018T	2	GBM-02-0033-TP	p.A1141T	C	GGAACCTAGGCGGTGCCTGGC	NM_001144996	NP_001138468	56078847	Q13683	ITA7_HUMAN	0			25	3641	-	T	T			Missense_Mutation	1181			Cytoplasmic (Potential).			
ITGA7	0	broad.mit.edu	GRCh37	12	56087909	56087909	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C			TCGA-26-1442-01	TCGA-26-1442-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000555728.1:c.2565-2A>G		p.X855_splice	ENST00000555728				0			1			C		uc001shh.2	protein_coding					2565/3546									ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	c.e19-1				integrin alpha 7 isoform 1 precursor				ENSP00000452387											COSM3398876,COSM3398877,COSM3398875		.		ENST00000555728	Transcript	1		cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	ENSG00000135424	g.chr12:56087909T>C	6143			HIGH	19/25							--	--	1																																		ITGA7_uc001shg.2_Splice_Site_p.G811_splice|ITGA7_uc010sps.1_Splice_Site_p.G718_splice|ITGA7_uc009znw.2_Splice_Site_p.G58_splice|ITGA7_uc009znx.2_Splice_Site_p.G692_splice	1,1,1				p.G815_splice	NM_001144996	NP_001138468			1,1,1	ITA7_HUMAN	ITGA7	HGNC	Q13683	ITA7_HUMAN					19	2665	-			UPI000013CF94						SNV	ITGA7,splice_acceptor_variant,,ENST00000257880,;ITGA7,splice_acceptor_variant,,ENST00000394230,;ITGA7,splice_acceptor_variant,,ENST00000394229,;ITGA7,splice_acceptor_variant,,ENST00000257879,NM_002206.2;ITGA7,splice_acceptor_variant,,ENST00000347027,;ITGA7,splice_acceptor_variant,,ENST00000553804,NM_001144996.1;ITGA7,splice_acceptor_variant,,ENST00000555728,;ITGA7,splice_acceptor_variant,,ENST00000452168,NM_001144997.1;ITGA7,downstream_gene_variant,,ENST00000557257,;ITGA7,splice_acceptor_variant,,ENST00000554327,;ITGA7,downstream_gene_variant,,ENST00000557058,;ITGA7,downstream_gene_variant,,ENST00000553276,;ITGA7,downstream_gene_variant,,ENST00000554543,;ITGA7,downstream_gene_variant,,ENST00000556273,;ITGA7,downstream_gene_variant,,ENST00000557488,;	uc001shh.2	c.2445_splice	-/3930	5	4			c.2445_splice						12	SNP	c.e19-1	43	43			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Broad	integrin alpha 7 isoform 1 precursor			56087909		0.592	ENSG00000135424	7745	g.chr12:56087909T>C	cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			261			261	11.588443	KEEP	1	6	-1	23	26	1	6	-1	18.559341	23	26	0.132075	1	0	0	0	0	0	0	0	1	--	--		0	C			ITGA7_uc001shg.2_Splice_Site_p.G811_splice|ITGA7_uc010sps.1_Splice_Site_p.G718_splice|ITGA7_uc009znw.2_Splice_Site_p.G58_splice|ITGA7_uc009znx.2_Splice_Site_p.G692_splice	180	GBM-26-1442-TP	p.G815_splice	T	ATGGCCATTCTGGCGTGGAGA	NM_001144996	NP_001138468	56087909	Q13683	ITA7_HUMAN	0			19	2665	-	C	C			Splice_Site							
ITGA8	0	broad.mit.edu	GRCh37	10	15701007	15701007	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-4210-01	TCGA-32-4210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378076.3:c.939G>A	p.Thr313=	p.T313=	ENST00000378076	NM_003638.1	313	acG/acA	0			1			T	T	uc001ioc.1	protein_coding	YES	CCDS31155.1			939/3192									ovary(3)|lung(3)	6	c.(937-939)ACG>ACA			Gene3D:3nigC00,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF5,SMART_domains:SM00191,Superfamily_domains:SSF69318	integrin, alpha 8 precursor				ENSP00000367316		30-Oct	8.24E-06							6.18E-05	rs768446593,COSM3397023	30-Oct	.		ENST00000378076	Transcript	1		cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	ENSG00000077943	g.chr10:15701007C>T	6144			LOW								--	--	1																																		ITGA8_uc010qcb.1_Silent_p.T298T	0,1	1			p.T313T	NM_003638	NP_003629			0,1	ITA8_HUMAN	ITGA8	HGNC	P53708	ITA8_HUMAN					10	939	-			UPI00001D80A0	313			Extracellular (Potential).|FG-GAP 5.		SNV	ITGA8,synonymous_variant,p.=,ENST00000378076,NM_003638.1;	uc001ioc.1	c.939G>A	1293/6755	2	2			c.939G>A						10	SNP	c.(937-939)ACG>ACA	36	36			ovary(3)|lung(3)	6	Broad	integrin, alpha 8 precursor			15701007		0.303	ENSG00000077943	7746	g.chr10:15701007C>T	cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity							54.236833	KEEP	12	9	-1	3	0	12	9	-1	56.132805	3	0	0.833333	1	0	0	0	0	0	0	1	0	--	--		0	T			ITGA8_uc010qcb.1_Silent_p.T298T	245	GBM-32-4210-TP	p.T313T	C	CCTGTTCTCCCGTGAAATTCT	NM_003638	NP_003629	15701007	P53708	ITA8_HUMAN	0			10	939	-	T	T			Silent	313			Extracellular (Potential).|FG-GAP 5.			
ITGA8	0	broad.mit.edu	GRCh37	10	15649777	15649777	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01	TCGA-76-6192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378076.3:c.1663C>T	p.Arg555Trp	p.R555W	ENST00000378076	NM_003638.1	555	Cgg/Tgg	0		A:0.0008	1	A:0		A	R/W	uc001ioc.1	protein_coding	YES	CCDS31155.1			1663/3192									ovary(3)|lung(3)	6	c.(1663-1665)CGG>TGG			Gene3D:1jv2A02,Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF5,Superfamily_domains:SSF69179	integrin, alpha 8 precursor		A:0		ENSP00000367316	A:0	17/30	8.24E-06	9.77E-05							rs538437434,COSM3397022	17/30	.		ENST00000378076	Transcript	1	A:0.0002	cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	ENSG00000077943	g.chr10:15649777G>A	6144			MODERATE		2.975	medium	getma.org/?cm=msa&ty=f&p=ITA8_HUMAN&rb=483&re=934&var=R555W	getma.org/pdb.php?prot=ITA8_HUMAN&from=483&to=934&var=R555W	getma.org/?cm=var&var=hg19,10,15649777,G,A&fts=all	R555W	--	--	1																																		ITGA8_uc010qcb.1_Missense_Mutation_p.R540W	0,1	1		probably_damaging(1)	p.R555W	NM_003638	NP_003629	A:0	deleterious(0)	0,1	ITA8_HUMAN	ITGA8	HGNC	P53708	ITA8_HUMAN					17	1663	-			UPI00001D80A0	555			Extracellular (Potential).		SNV	ITGA8,missense_variant,p.Arg555Trp,ENST00000378076,NM_003638.1;ITGA8,upstream_gene_variant,,ENST00000477064,;ITGA8,downstream_gene_variant,,ENST00000468882,;	uc001ioc.1	c.1663C>T	2017/6755	2	2			c.1663C>T						10	SNP	c.(1663-1665)CGG>TGG	28	28			ovary(3)|lung(3)	6	Broad	integrin, alpha 8 precursor			15649777		0.433	ENSG00000077943	7746	g.chr10:15649777G>A	cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity							106.852267	KEEP	14	25	-1	30	33	14	25	-1	108.141235	30	33	0.377551	1	0	0	0	0	1	0	0	0	--	--		0	A			ITGA8_uc010qcb.1_Missense_Mutation_p.R540W	275	GBM-76-6192-TP	p.R555W	G	AAGAGCGTCCGTTTAATAGCT	NM_003638	NP_003629	15649777	P53708	ITA8_HUMAN	0			17	1663	-	A	A			Missense_Mutation	555			Extracellular (Potential).			
ITGA9	3680	broad.mit.edu	GRCh37	3	37547525	37547525	+	synonymous_variant	Silent	SNP	G	G	A	rs145062473		TCGA-06-0241-01	TCGA-06-0241-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264741.5:c.777G>A	p.Pro259=	p.P259=	ENST00000264741	NM_002207.2	259	ccG/ccA	0	A:0	A:0	1	A:0.0014		A	P	uc003chd.2	protein_coding	YES	CCDS2669.1			777/3108									breast(3)|pancreas(1)|lung(1)|skin(1)	6	c.(775-777)CCG>CCA			PROSITE_profiles:PS51470,hmmpanther:PTHR23220:SF69,hmmpanther:PTHR23220,Gene3D:3nigC00,SMART_domains:SM00191,Superfamily_domains:SSF69318	integrin, alpha 9 precursor		A:0	A:0.0001	ENSP00000264741	A:0.001	28-Jul	0.000124		0.000166			0.000254		0.000268	rs145062473,COSM1044040	28-Jul	.		ENST00000264741	Transcript	1	A:0.0006	axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	ENSG00000144668	g.chr3:37547525G>A	6145			LOW								--	--	1																																		ITGA9_uc003chc.2_Silent_p.P259P	0,1	1			p.P259P	NM_002207	NP_002198	A:0.001		0,1	ITA9_HUMAN	ITGA9	HGNC	Q13797	ITA9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)			7	830	+			UPI00001AE8BB	259			Extracellular (Potential).|FG-GAP 4.		SNV	ITGA9,synonymous_variant,p.=,ENST00000264741,NM_002207.2;ITGA9,synonymous_variant,p.=,ENST00000422441,;	uc003chd.2	c.777G>A	1033/7889	2	2			c.777G>A						3	SNP	c.(775-777)CCG>CCA	27	27			breast(3)|pancreas(1)|lung(1)|skin(1)	6	Broad	integrin, alpha 9 precursor			37547525		0.537	ENSG00000144668	7747	g.chr3:37547525G>A	axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity							24.540734	KEEP	6	5	-1	20	12	6	5	-1	26.298151	20	12	0.27027	1	0	0	0	0	0	0	1	0	--	--		0	A			ITGA9_uc003chc.2_Silent_p.P259P	57	GBM-06-0241-TP	p.P259P	G	TCTCTCACCCGTCCACCATTG	NM_002207	NP_002198	37547525	Q13797	ITA9_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	7	830	+	A	A			Silent	259			Extracellular (Potential).|FG-GAP 4.			
ITGA9	0	broad.mit.edu	GRCh37	3	37555330	37555330	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-26-6173-01	TCGA-26-6173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264741.5:c.974C>A	p.Ala325Asp	p.A325D	ENST00000264741	NM_002207.2	325	gCc/gAc	0			1			A	A/D	uc003chd.2	protein_coding	YES	CCDS2669.1			974/3108									breast(3)|pancreas(1)|lung(1)|skin(1)	6	c.(973-975)GCC>GAC			PROSITE_profiles:PS51470,hmmpanther:PTHR23220:SF69,hmmpanther:PTHR23220,Pfam_domain:PF13517,Gene3D:3nigC00,SMART_domains:SM00191,Superfamily_domains:SSF69318	integrin, alpha 9 precursor				ENSP00000264741		28-Sep									COSM3408618	28-Sep	.		ENST00000264741	Transcript	1		axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	ENSG00000144668	g.chr3:37555330C>A	6145			MODERATE		3.335	medium	getma.org/?cm=msa&ty=f&p=ITA9_HUMAN&rb=304&re=340&var=A325D	getma.org/pdb.php?prot=ITA9_HUMAN&from=304&to=340&var=A325D	getma.org/?cm=var&var=hg19,3,37555330,C,A&fts=all	A325D	--	--	1																																		ITGA9_uc003chc.2_Missense_Mutation_p.A325D	1	1		probably_damaging(0.998)	p.A325D	NM_002207	NP_002198		deleterious(0)	1	ITA9_HUMAN	ITGA9	HGNC	Q13797	ITA9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)			9	1027	+			UPI00001AE8BB	325			Extracellular (Potential).|FG-GAP 5.		SNV	ITGA9,missense_variant,p.Ala325Asp,ENST00000264741,NM_002207.2;ITGA9,missense_variant,p.Ala325Asp,ENST00000422441,;	uc003chd.2	c.974C>A	1230/7889	2	2			c.974C>A						3	SNP	c.(973-975)GCC>GAC	43	43			breast(3)|pancreas(1)|lung(1)|skin(1)	6	Broad	integrin, alpha 9 precursor			37555330		0.547	ENSG00000144668	7747	g.chr3:37555330C>A	axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity							66.588456	KEEP	14	16	0.533333333	39	40	14	16	0.533333333	70.766603	39	40	0.282828	1	0	0	0	0	1	0	0	0	--	--		0	A			ITGA9_uc003chc.2_Missense_Mutation_p.A325D	187	GBM-26-6173-TP	p.A325D	C	CTGGTGGGGGCCCCCATGTTT	NM_002207	NP_002198	37555330	Q13797	ITA9_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	9	1027	+	A	A			Missense_Mutation	325			Extracellular (Potential).|FG-GAP 5.			
ITGAD	0	broad.mit.edu	GRCh37	16	31429674	31429674	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-12-0692-01	TCGA-12-0692-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389202.2:c.2669G>T	p.Arg890Met	p.R890M	ENST00000389202	NM_005353.2	890	aGg/aTg	0			1			T	R/M	uc002ebv.1	protein_coding	YES	CCDS32438.1			2669/3486									skin(1)	1	c.(2668-2670)AGG>ATG			Superfamily_domains:SSF69179,Pfam_domain:PF08441,Gene3D:2.60.40.1510,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF19	integrin, alpha D precursor				ENSP00000373854		22/30									COSM2154301	22/30	.		ENST00000389202	Transcript			cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	ENSG00000156886	g.chr16:31429674G>T	6146			MODERATE		1.585	low	getma.org/?cm=msa&ty=f&p=ITAD_HUMAN&rb=614&re=1027&var=R890M	getma.org/pdb.php?prot=ITAD_HUMAN&from=614&to=1027&var=R890M	getma.org/?cm=var&var=hg19,16,31429674,G,T&fts=all	R890M	--	--	1																																		ITGAD_uc010cap.1_Missense_Mutation_p.R891M	1	1		probably_damaging(0.916)	p.R890M	NM_005353	NP_005344		deleterious(0)	1	ITAD_HUMAN	ITGAD	HGNC	Q13349	ITAD_HUMAN			Q59H14_HUMAN		22	2718	+			UPI000004B27A	890			Extracellular (Potential).		SNV	ITGAD,missense_variant,p.Arg890Met,ENST00000389202,NM_005353.2;	uc002ebv.1	c.2669G>T	2718/3912	2	2			c.2669G>T						16	SNP	c.(2668-2670)AGG>ATG	45	45			skin(1)	1	Broad	integrin, alpha D precursor			31429674		0.572	ENSG00000156886	7748	g.chr16:31429674G>T	cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity							127.562329	KEEP	23	26	0.469387755	62	39	23	26	0.469387755	130.440622	62	39	0.341085	1	0	0	0	0	1	0	0	0	--	--		0	T			ITGAD_uc010cap.1_Missense_Mutation_p.R891M	122	GBM-12-0692-TP	p.R890M	G	CTGGGAGACAGGATGCTTATG	NM_005353	NP_005344	31429674	Q13349	ITAD_HUMAN	0			22	2718	+	T	T			Missense_Mutation	890			Extracellular (Potential).			
ITGAD	0	broad.mit.edu	GRCh37	16	31426282	31426282	+	synonymous_variant	Silent	SNP	C	C	T	rs144306080	byFrequency	TCGA-19-2623-01	TCGA-19-2623-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389202.2:c.2253C>T	p.Ala751=	p.A751=	ENST00000389202	NM_005353.2	751	gcC/gcT	0	T:0.0016	T:0.0008	1	T:0		T	A	uc002ebv.1	protein_coding	YES	CCDS32438.1			2253/3486									skin(1)	1	c.(2251-2253)GCC>GCT			Superfamily_domains:SSF69179,Pfam_domain:PF08441,Gene3D:1jv2A02,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF19	integrin, alpha D precursor		T:0	T:0	ENSP00000373854	T:0	18/30	0.000181	0.00163	0.000173			3.00E-05	0.0011		rs144306080,COSM970252	18/30	common_variant		ENST00000389202	Transcript		T:0.0002	cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	ENSG00000156886	g.chr16:31426282C>T	6146			LOW								--	--	1																																		ITGAD_uc010cap.1_Silent_p.A752A	0,1	1			p.A751A	NM_005353	NP_005344	T:0		0,1	ITAD_HUMAN	ITGAD	HGNC	Q13349	ITAD_HUMAN			Q59H14_HUMAN		18	2302	+			UPI000004B27A	751			Extracellular (Potential).		SNV	ITGAD,synonymous_variant,p.=,ENST00000389202,NM_005353.2;	uc002ebv.1	c.2253C>T	2302/3912	1	1			c.2253C>T						16	SNP	c.(2251-2253)GCC>GCT	8	8			skin(1)	1	Broad	integrin, alpha D precursor			31426282		0.537	ENSG00000156886	7748	g.chr16:31426282C>T	cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity							179.33361	KEEP	31	29	-1	51	57	31	29	-1	182.136395	51	57	0.358491	1	0	0	0	0	0	0	1	0	--	--		0	T			ITGAD_uc010cap.1_Silent_p.A752A	163	GBM-19-2623-TP	p.A751A	C	CTGTGCTGGCCGTGGGCTCAC	NM_005353	NP_005344	31426282	Q13349	ITAD_HUMAN	0			18	2302	+	T	T			Silent	751			Extracellular (Potential).			
ITGAD	0	broad.mit.edu	GRCh37	16	31427865	31427865	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389202.2:c.2397C>T	p.Asn799=	p.N799=	ENST00000389202	NM_005353.2	799	aaC/aaT	0			1			T	N	uc002ebv.1	protein_coding	YES	CCDS32438.1			2397/3486									skin(1)	1	c.(2395-2397)AAC>AAT			Superfamily_domains:SSF69179,Pfam_domain:PF08441,Gene3D:2.60.40.1510,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF19	integrin, alpha D precursor				ENSP00000373854		20/30									COSM1158389	20/30	.		ENST00000389202	Transcript			cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	ENSG00000156886	g.chr16:31427865C>T	6146			LOW								--	--	1																																		ITGAD_uc010cap.1_Silent_p.N800N	1	1			p.N799N	NM_005353	NP_005344			1	ITAD_HUMAN	ITGAD	HGNC	Q13349	ITAD_HUMAN			Q59H14_HUMAN		20	2446	+			UPI000004B27A	799			Extracellular (Potential).		SNV	ITGAD,synonymous_variant,p.=,ENST00000389202,NM_005353.2;	uc002ebv.1	c.2397C>T	2446/3912	1	1			c.2397C>T						16	SNP	c.(2395-2397)AAC>AAT	3	3			skin(1)	1	Broad	integrin, alpha D precursor			31427865		0.617	ENSG00000156886	7748	g.chr16:31427865C>T	cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity							150.254752	KEEP	33	36	-1	112	123	33	36	-1	167.147357	112	123	0.237918	1	0	0	0	0	0	0	1	0	--	--		0	T			ITGAD_uc010cap.1_Silent_p.N800N	229	GBM-32-1977-TP	p.N799N	C	TGGAGCTCAACGTGATTGTGA	NM_005353	NP_005344	31427865	Q13349	ITAD_HUMAN	0			20	2446	+	T	T			Silent	799			Extracellular (Potential).			
ITGAD	0	broad.mit.edu	GRCh37	16	31422196	31422196	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389202.2:c.1353G>A	p.Thr451=	p.T451=	ENST00000389202	NM_005353.2	451	acG/acA	0	T:0.0002		1			A	T	uc002ebv.1	protein_coding	YES	CCDS32438.1			1353/3486									skin(1)	1	c.(1351-1353)ACG>ACA			Prints_domain:PR01185,Superfamily_domains:SSF69318,Gene3D:3nigC00,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF19,PROSITE_profiles:PS51470	integrin, alpha D precursor			T:0	ENSP00000373854		30-Dec	5.77E-05	9.89E-05				3.05E-05	0.00113	0.000188	rs374689836,COSM2918136	30-Dec	.		ENST00000389202	Transcript			cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	ENSG00000156886	g.chr16:31422196G>A	6146			LOW								--	--	1																																		ITGAD_uc010cap.1_Silent_p.T451T	0,1	1			p.T451T	NM_005353	NP_005344			0,1	ITAD_HUMAN	ITGAD	HGNC	Q13349	ITAD_HUMAN			Q59H14_HUMAN		12	1402	+			UPI000004B27A	451			Extracellular (Potential).|FG-GAP 5.		SNV	ITGAD,synonymous_variant,p.=,ENST00000389202,NM_005353.2;ITGAD,downstream_gene_variant,,ENST00000444228,;	uc002ebv.1	c.1353G>A	1402/3912	2	2			c.1353G>A						16	SNP	c.(1351-1353)ACG>ACA	47	47			skin(1)	1	Broad	integrin, alpha D precursor			31422196		0.657	ENSG00000156886	7748	g.chr16:31422196G>A	cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity							42.073163	KEEP	10	11	-1	38	39	10	11	-1	48.053774	38	39	0.223529	1	0	0	0	0	0	0	1	0	--	--		0	A			ITGAD_uc010cap.1_Silent_p.T451T	235	GBM-32-2491-TP	p.T451T	G	TCACAGGGACGCAGGTTGGGC	NM_005353	NP_005344	31422196	Q13349	ITAD_HUMAN	0			12	1402	+	A	A			Silent	451			Extracellular (Potential).|FG-GAP 5.			
ITGAD	3681		GRCh37	16	31435264	31435264	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000389202.2:c.3144C>T	p.Phe1048=	p.F1048=	ENST00000389202	NM_005353.2	1048	ttC/ttT	0																																																																																																																																																																																																																																												
ITGAE	0	broad.mit.edu	GRCh37	17	3651273	3651273	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263087.4:c.2098G>A	p.Val700Ile	p.V700I	ENST00000263087	NM_002208.4	700	Gtc/Atc	0			1			T	V/I	uc002fwo.3	protein_coding	YES	CCDS32531.1			2098/3540									large_intestine(2)|breast(1)|pancreas(1)	4	c.(2098-2100)GTC>ATC			Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF74,Superfamily_domains:SSF69179	integrin, alpha E precursor				ENSP00000263087		17/31									COSM2154321	17/31	.		ENST00000263087	Transcript			cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	ENSG00000083457	g.chr17:3651273C>T	6147			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=ITAE_HUMAN&rb=676&re=1112&var=V700I	getma.org/pdb.php?prot=ITAE_HUMAN&from=676&to=1112&var=V700I	getma.org/?cm=var&var=hg19,17,3651273,C,T&fts=all	V700I	--	--	1																																			1	1		benign(0.131)	p.V700I	NM_002208	NP_002199		tolerated(0.29)	1	ITAE_HUMAN	ITGAE	HGNC	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)			17	2197	-			UPI000049DE2D	700			Extracellular (Potential).		SNV	ITGAE,missense_variant,p.Val700Ile,ENST00000263087,NM_002208.4;ITGAE,upstream_gene_variant,,ENST00000574026,;ITGAE,downstream_gene_variant,,ENST00000572121,;	uc002fwo.3	c.2098G>A	2197/3858	1	1			c.2098G>A						17	SNP	c.(2098-2100)GTC>ATC	11	11			large_intestine(2)|breast(1)|pancreas(1)	4	Broad	integrin, alpha E precursor			3651273		0.542	ENSG00000083457	7749	g.chr17:3651273C>T	cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	NSCLC(182;635 2928 8995 38788)		37	NSCLC(182;635 2928 8995 38788)		37	70.788313	KEEP	12	16	-1	22	8	12	16	-1	70.788313	22	8	0.5	1	0	0	0	0	1	0	0	0	--	--		0	T				122	GBM-12-0692-TP	p.V700I	C	ACATTCACGACGCCGTTGAAG	NM_002208	NP_002199	3651273	P38570	ITAE_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	17	2197	-	T	T			Missense_Mutation	700			Extracellular (Potential).			
ITGAM	3684	broad.mit.edu	GRCh37	16	31286996	31286996	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-2485-01	TCGA-02-2485-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000544665.3:c.985C>T	p.Arg329Trp	p.R329W	ENST00000544665	NM_001145808.1	329	Cgg/Tgg	0			1			T	R/W	uc002ebq.2	protein_coding		CCDS45470.1			985/3459									kidney(1)	1	c.(985-987)CGG>TGG			hmmpanther:PTHR23220:SF76,hmmpanther:PTHR23220,Gene3D:3nigC00,SMART_domains:SM00327,Superfamily_domains:SSF53300,Superfamily_domains:SSF69318	integrin alpha M isoform 2 precursor				ENSP00000287497		30-Sep									COSM1518933	30-Sep	.		ENST00000287497	Transcript	1		blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	ENSG00000169896	g.chr16:31286996C>T	6149			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=ITAM_HUMAN&rb=329&re=519&var=R329W	getma.org/pdb.php?prot=ITAM_HUMAN&from=329&to=519&var=R329W	getma.org/?cm=var&var=hg19,16,31286996,C,T&fts=all	R329W	--	--	1																																		ITGAM_uc002ebr.2_Missense_Mutation_p.R329W|ITGAM_uc010cam.1_5'UTR	1			benign(0.396)	p.R329W	NM_000632	NP_000623		deleterious(0)	1	ITAM_HUMAN	ITGAM	HGNC	P11215	ITAM_HUMAN			B3KXM6_HUMAN		9	1083	+			UPI00000498C2	329			Extracellular (Potential).		SNV	ITGAM,missense_variant,p.Arg329Trp,ENST00000544665,NM_001145808.1,NM_000632.3;ITGAM,missense_variant,p.Arg329Trp,ENST00000287497,;ITGAM,missense_variant,p.Arg29Trp,ENST00000567031,;ITGAM,downstream_gene_variant,,ENST00000570242,;	uc002ebq.2	c.985C>T	1060/3595	2	2			c.985C>T						16	SNP	c.(985-987)CGG>TGG	32	32			kidney(1)	1	Broad	integrin alpha M isoform 2 precursor			31286996		0.542	ENSG00000169896	7751	g.chr16:31286996C>T	blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity							96.482566	KEEP	17	18	-1	29	27	17	18	-1	97.434892	29	27	0.385542	1	0	0	0	0	1	0	0	0	--	--		0	T			ITGAM_uc002ebr.2_Missense_Mutation_p.R329W|ITGAM_uc010cam.1_5'UTR	7	GBM-02-2485-TP	p.R329W	C	GAACCAGCTTCGGGAGAAGAT	NM_000632	NP_000623	31286996	P11215	ITAM_HUMAN	0			9	1083	+	T	T			Missense_Mutation	329			Extracellular (Potential).			
ITGAM	3684	broad.mit.edu	GRCh37	16	31338227	31338227	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0137-01	TCGA-06-0137-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000544665.3:c.2682C>A	p.Asn894Lys	p.N894K	ENST00000544665	NM_001145808.1	894	aaC/aaA	0			1			A	N/K	uc002ebq.2	protein_coding		CCDS45470.1			2679/3459									kidney(1)	1	c.(2677-2679)AAC>AAA			hmmpanther:PTHR23220:SF76,hmmpanther:PTHR23220,Gene3D:2.60.40.1510,Pfam_domain:PF08441,Superfamily_domains:SSF69179	integrin alpha M isoform 2 precursor				ENSP00000287497		22/30										22/30	.		ENST00000287497	Transcript	1		blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	ENSG00000169896	g.chr16:31338227C>A	6149			MODERATE		2.035	medium	getma.org/?cm=msa&ty=f&p=ITAM_HUMAN&rb=614&re=1032&var=N893K	getma.org/pdb.php?prot=ITAM_HUMAN&from=614&to=1032&var=N893K	getma.org/?cm=var&var=hg19,16,31338227,C,A&fts=all	N893K	--	--	1																																		ITGAM_uc002ebr.2_Missense_Mutation_p.N894K|ITGAM_uc010can.2_Missense_Mutation_p.N299K|ITGAM_uc002ebs.1_Missense_Mutation_p.N299K				benign(0.02)	p.N893K	NM_000632	NP_000623		tolerated(0.06)		ITAM_HUMAN	ITGAM	HGNC	P11215	ITAM_HUMAN			B3KXM6_HUMAN		22	2777	+			UPI00000498C2	893			Extracellular (Potential).		SNV	ITGAM,missense_variant,p.Asn894Lys,ENST00000544665,NM_001145808.1,NM_000632.3;ITGAM,missense_variant,p.Asn893Lys,ENST00000287497,;ITGAM,upstream_gene_variant,,ENST00000565142,;ITGAM,downstream_gene_variant,,ENST00000567031,;ITGAM,non_coding_transcript_exon_variant,,ENST00000561838,;ITGAM,upstream_gene_variant,,ENST00000569746,;ITGAM,upstream_gene_variant,,ENST00000567178,;	uc002ebq.2	c.2679C>A	2754/3595	2	2			c.2679C>A						16	SNP	c.(2677-2679)AAC>AAA	28	28			kidney(1)	1	Broad	integrin alpha M isoform 2 precursor			31338227		0.478	ENSG00000169896	7751	g.chr16:31338227C>A	blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity							299.074809	KEEP	62	50	0.446428571	103	83	62	50	0.446428571	303.329461	103	83	0.365672	1	0	0	0	0	1	0	0	0	--	--		0	A			ITGAM_uc002ebr.2_Missense_Mutation_p.N894K|ITGAM_uc010can.2_Missense_Mutation_p.N299K|ITGAM_uc002ebs.1_Missense_Mutation_p.N299K	18	GBM-06-0137-TP	p.N893K	C	CCCTTGGAAACAAACTGCTCC	NM_000632	NP_000623	31338227	P11215	ITAM_HUMAN	0			22	2777	+	A	A			Missense_Mutation	893			Extracellular (Potential).			
ITGAM	3684	broad.mit.edu	GRCh37	16	31284722	31284722	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0188-01	TCGA-06-0188-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000544665.3:c.741G>A	p.Lys247=	p.K247=	ENST00000544665	NM_001145808.1	247	aaG/aaA	0			1			A	K	uc002ebq.2	protein_coding		CCDS45470.1			741/3459									kidney(1)	1	c.(739-741)AAG>AAA			PROSITE_profiles:PS50234,hmmpanther:PTHR23220:SF76,hmmpanther:PTHR23220,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300	integrin alpha M isoform 2 precursor				ENSP00000287497		30-Aug									COSM2150576	30-Aug	.		ENST00000287497	Transcript	1		blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	ENSG00000169896	g.chr16:31284722G>A	6149			LOW								--	--	1																																		ITGAM_uc002ebr.2_Silent_p.K247K|ITGAM_uc010cam.1_5'Flank	1				p.K247K	NM_000632	NP_000623			1	ITAM_HUMAN	ITGAM	HGNC	P11215	ITAM_HUMAN			B3KXM6_HUMAN		8	839	+			UPI00000498C2	247			VWFA.|Extracellular (Potential).		SNV	ITGAM,synonymous_variant,p.=,ENST00000544665,NM_001145808.1,NM_000632.3;ITGAM,synonymous_variant,p.=,ENST00000287497,;ITGAM,upstream_gene_variant,,ENST00000567031,;ITGAM,non_coding_transcript_exon_variant,,ENST00000570242,;	uc002ebq.2	c.741G>A	816/3595	2	2			c.741G>A						16	SNP	c.(739-741)AAG>AAA	44	44			kidney(1)	1	Broad	integrin alpha M isoform 2 precursor			31284722		0.453	ENSG00000169896	7751	g.chr16:31284722G>A	blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity							174.60345	KEEP	23	43	-1	52	58	23	43	-1	176.66414	52	58	0.376623	1	0	0	0	0	0	0	1	0	--	--		0	A			ITGAM_uc002ebr.2_Silent_p.K247K|ITGAM_uc010cam.1_5'Flank	41	GBM-06-0188-TP	p.K247K	G	GAGCCCGAAAGAATGCCTTTA	NM_000632	NP_000623	31284722	P11215	ITAM_HUMAN	0			8	839	+	A	A			Silent	247			VWFA.|Extracellular (Potential).			
ITGAM	3684	broad.mit.edu	GRCh37	16	31286937	31286937	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0188-01	TCGA-06-0188-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000544665.3:c.926G>A	p.Arg309His	p.R309H	ENST00000544665	NM_001145808.1	309	cGt/cAt	0			1			A	R/H	uc002ebq.2	protein_coding		CCDS45470.1			926/3459									kidney(1)	1	c.(925-927)CGT>CAT			PROSITE_profiles:PS50234,hmmpanther:PTHR23220:SF76,hmmpanther:PTHR23220,Pfam_domain:PF00092,Gene3D:3nigC00,SMART_domains:SM00327,Superfamily_domains:SSF53300	integrin alpha M isoform 2 precursor				ENSP00000287497		30-Sep	1.65E-05		8.66E-05			1.50E-05			rs759107498,COSM2150592	30-Sep	.		ENST00000287497	Transcript	1		blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	ENSG00000169896	g.chr16:31286937G>A	6149			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=ITAM_HUMAN&rb=150&re=328&var=R309H	getma.org/pdb.php?prot=ITAM_HUMAN&from=150&to=328&var=R309H	getma.org/?cm=var&var=hg19,16,31286937,G,A&fts=all	R309H	--	--	1																																		ITGAM_uc002ebr.2_Missense_Mutation_p.R309H|ITGAM_uc010cam.1_Translation_Start_Site	0,1			benign(0.002)	p.R309H	NM_000632	NP_000623		tolerated(0.27)	0,1	ITAM_HUMAN	ITGAM	HGNC	P11215	ITAM_HUMAN			B3KXM6_HUMAN		9	1024	+			UPI00000498C2	309			VWFA.|Extracellular (Potential).		SNV	ITGAM,missense_variant,p.Arg309His,ENST00000544665,NM_001145808.1,NM_000632.3;ITGAM,missense_variant,p.Arg309His,ENST00000287497,;ITGAM,missense_variant,p.Arg9His,ENST00000567031,;ITGAM,downstream_gene_variant,,ENST00000570242,;	uc002ebq.2	c.926G>A	1001/3595	2	2			c.926G>A						16	SNP	c.(925-927)CGT>CAT	45	45			kidney(1)	1	Broad	integrin alpha M isoform 2 precursor			31286937		0.512	ENSG00000169896	7751	g.chr16:31286937G>A	blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity							114.341064	KEEP	24	19	-1	21	35	24	19	-1	114.506788	21	35	0.452381	1	0	0	0	0	1	0	0	0	--	--		0	A			ITGAM_uc002ebr.2_Missense_Mutation_p.R309H|ITGAM_uc010cam.1_Translation_Start_Site	41	GBM-06-0188-TP	p.R309H	G	AAGCCGCCTCGTGATCACGTG	NM_000632	NP_000623	31286937	P11215	ITAM_HUMAN	0			9	1024	+	A	A			Missense_Mutation	309			VWFA.|Extracellular (Potential).			
ITGAM	3684	broad.mit.edu	GRCh37	16	31308885	31308885	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0241-01	TCGA-06-0241-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000544665.3:c.1407C>T	p.Asn469=	p.N469=	ENST00000544665	NM_001145808.1	469	aaC/aaT	0	T:0		1			T	N	uc002ebq.2	protein_coding		CCDS45470.1			1407/3459									kidney(1)	1	c.(1405-1407)AAC>AAT			PROSITE_profiles:PS51470,hmmpanther:PTHR23220:SF76,hmmpanther:PTHR23220,Gene3D:3nigC00,SMART_domains:SM00191,Superfamily_domains:SSF69318,Prints_domain:PR01185	integrin alpha M isoform 2 precursor			T:0.0001	ENSP00000287497		13/30	4.94E-05	0.000101				4.50E-05		0.000121	rs377233362,COSM2151136	13/30	.		ENST00000287497	Transcript	1		blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	ENSG00000169896	g.chr16:31308885C>T	6149			LOW								--	--	1																																		ITGAM_uc002ebr.2_Silent_p.N469N|ITGAM_uc010cam.1_Missense_Mutation_p.R73W|ITGAM_uc010can.2_Translation_Start_Site	0,1				p.N469N	NM_000632	NP_000623			0,1	ITAM_HUMAN	ITGAM	HGNC	P11215	ITAM_HUMAN			B3KXM6_HUMAN		13	1505	+			UPI00000498C2	469			FG-GAP 5.|Extracellular (Potential).|Potential.		SNV	ITGAM,missense_variant,p.Arg122Trp,ENST00000567031,;ITGAM,synonymous_variant,p.=,ENST00000544665,NM_001145808.1,NM_000632.3;ITGAM,synonymous_variant,p.=,ENST00000287497,;	uc002ebq.2	c.1407C>T	1482/3595	2	2			c.1407C>T						16	SNP	c.(1405-1407)AAC>AAT	21	21			kidney(1)	1	Broad	integrin alpha M isoform 2 precursor			31308885		0.637	ENSG00000169896	7751	g.chr16:31308885C>T	blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity							414.166288	KEEP	82	86	-1	116	105	82	86	-1	414.998999	116	105	0.445483	1	0	0	0	0	0	0	1	0	--	--		0	T			ITGAM_uc002ebr.2_Silent_p.N469N|ITGAM_uc010cam.1_Missense_Mutation_p.R73W|ITGAM_uc010can.2_Translation_Start_Site	57	GBM-06-0241-TP	p.N469N	C	TGGACAGCAACGGCAGCACCG	NM_000632	NP_000623	31308885	P11215	ITAM_HUMAN	0			13	1505	+	T	T			Silent	469			FG-GAP 5.|Extracellular (Potential).|Potential.			
ITGAM	0	broad.mit.edu	GRCh37	16	31309135	31309135	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-26-5135-01	TCGA-26-5135-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000287497.8:c.1567G>T	p.Ala523Ser	p.A523S	ENST00000287497		523	Gcc/Tcc	0			1			T	A/S	uc002ebq.2	protein_coding		CCDS45470.1			1567/3459									kidney(1)	1	c.(1567-1569)GCC>TCC			PROSITE_profiles:PS51470,hmmpanther:PTHR23220:SF76,hmmpanther:PTHR23220,Gene3D:3nigC00,Pfam_domain:PF01839,SMART_domains:SM00191,Superfamily_domains:SSF69318,Prints_domain:PR01185	integrin alpha M isoform 2 precursor				ENSP00000287497		14/30									COSM3402300	14/30	.		ENST00000287497	Transcript	1		blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	ENSG00000169896	g.chr16:31309135G>T	6149			MODERATE		0.75	neutral	getma.org/?cm=msa&ty=f&p=ITAM_HUMAN&rb=520&re=555&var=A523S	getma.org/pdb.php?prot=ITAM_HUMAN&from=520&to=555&var=A523S	getma.org/?cm=var&var=hg19,16,31309135,G,T&fts=all	A523S	--	--	1																																		ITGAM_uc002ebr.2_Missense_Mutation_p.A524S|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.2_Intron	1			probably_damaging(0.997)	p.A523S	NM_000632	NP_000623		tolerated(0.19)	1	ITAM_HUMAN	ITGAM	HGNC	P11215	ITAM_HUMAN			B3KXM6_HUMAN		14	1665	+			UPI00000498C2	523			FG-GAP 6.|Extracellular (Potential).		SNV	ITGAM,missense_variant,p.Ala524Ser,ENST00000544665,NM_001145808.1,NM_000632.3;ITGAM,missense_variant,p.Ala523Ser,ENST00000287497,;ITGAM,intron_variant,,ENST00000567031,;	uc002ebq.2	c.1567G>T	1642/3595	1	1			c.1567G>T						16	SNP	c.(1567-1569)GCC>TCC	12	12			kidney(1)	1	Broad	integrin alpha M isoform 2 precursor			31309135		0.607	ENSG00000169896	7751	g.chr16:31309135G>T	blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity							-27.018904	KEEP	0	4	-1	76	78	0	4	-1	6.94411	76	78	0.028777	1	0	0	0	0	1	0	0	0	--	--		0	T			ITGAM_uc002ebr.2_Missense_Mutation_p.A524S|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.2_Intron	184	GBM-26-5135-TP	p.A523S	G	CTTTGGGGCAGCCCTAACAGT	NM_000632	NP_000623	31309135	P11215	ITAM_HUMAN	0			14	1665	+	T	T			Missense_Mutation	523			FG-GAP 6.|Extracellular (Potential).			
ITGAM	0	broad.mit.edu	GRCh37	16	31308873	31308873	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-2513-01	TCGA-28-2513-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000287497.8:c.1395C>T	p.Asp465=	p.D465=	ENST00000287497		465	gaC/gaT	0	T:0		1			T	D	uc002ebq.2	protein_coding		CCDS45470.1			1395/3459									kidney(1)	1	c.(1393-1395)GAC>GAT			PROSITE_profiles:PS51470,hmmpanther:PTHR23220:SF76,hmmpanther:PTHR23220,Gene3D:3nigC00,SMART_domains:SM00191,Superfamily_domains:SSF69318,Prints_domain:PR01185	integrin alpha M isoform 2 precursor			T:0.0001	ENSP00000287497		13/30	1.65E-05					1.50E-05		6.06E-05	rs377110507,COSM3402299	13/30	.		ENST00000287497	Transcript	1		blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	ENSG00000169896	g.chr16:31308873C>T	6149			LOW								--	--	1																																		ITGAM_uc002ebr.2_Silent_p.D465D|ITGAM_uc010cam.1_Missense_Mutation_p.R69C|ITGAM_uc010can.2_Translation_Start_Site	0,1				p.D465D	NM_000632	NP_000623			0,1	ITAM_HUMAN	ITGAM	HGNC	P11215	ITAM_HUMAN			B3KXM6_HUMAN		13	1493	+			UPI00000498C2	465			FG-GAP 5.|Extracellular (Potential).|Potential.		SNV	ITGAM,missense_variant,p.Arg118Cys,ENST00000567031,;ITGAM,synonymous_variant,p.=,ENST00000544665,NM_001145808.1,NM_000632.3;ITGAM,synonymous_variant,p.=,ENST00000287497,;	uc002ebq.2	c.1395C>T	1470/3595	2	2			c.1395C>T						16	SNP	c.(1393-1395)GAC>GAT	35	35			kidney(1)	1	Broad	integrin alpha M isoform 2 precursor			31308873		0.627	ENSG00000169896	7751	g.chr16:31308873C>T	blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity							67.970506	KEEP	16	26	-1	111	128	16	26	-1	92.950515	111	128	0.159292	1	0	0	0	0	0	0	1	0	--	--		0	T			ITGAM_uc002ebr.2_Silent_p.D465D|ITGAM_uc010cam.1_Missense_Mutation_p.R69C|ITGAM_uc010can.2_Translation_Start_Site	213	GBM-28-2513-TP	p.D465D	C	GCTCCGTGGACGTGGACAGCA	NM_000632	NP_000623	31308873	P11215	ITAM_HUMAN	0			13	1493	+	T	T			Silent	465			FG-GAP 5.|Extracellular (Potential).|Potential.			
ITGAM	3684		GRCh37	16	31286944	31286944	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000544665.3:c.933C>T	p.His311=	p.H311=	ENST00000544665	NM_001145808.1	311	caC/caT	0																																																																																																																																																																																																																																												
ITGAV	3685	broad.mit.edu	GRCh37	2	187506166	187506166	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01	TCGA-06-0168-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261023.3:c.1010G>A	p.Gly337Asp	p.G337D	ENST00000261023	NM_002210.4	337	gGc/gAc	0			1			A	G/D	uc002upq.2	protein_coding	YES	CCDS2292.1			1010/3147									ovary(2)|kidney(1)|skin(1)	4	c.(1009-1011)GGC>GAC			Gene3D:3nigC00,Pfam_domain:PF01839,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF4,SMART_domains:SM00191,Superfamily_domains:SSF69318	integrin alpha-V isoform 1 precursor				ENSP00000261023		30-Dec									COSM3407396,COSM3407397	30-Dec	.		ENST00000261023	Transcript			angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	ENSG00000138448	g.chr2:187506166G>A	6150			MODERATE		3.265	medium	getma.org/?cm=msa&ty=f&p=ITAV_HUMAN&rb=306&re=341&var=G337D	getma.org/pdb.php?prot=ITAV_HUMAN&from=306&to=341&var=G337D	getma.org/?cm=var&var=hg19,2,187506166,G,A&fts=all	G337D	--	--	1																																		ITGAV_uc010frs.2_Missense_Mutation_p.G301D|ITGAV_uc010zfv.1_Missense_Mutation_p.G291D	1,1	1		probably_damaging(1)	p.G337D	NM_002210	NP_002201		deleterious(0.02)	1,1	ITAV_HUMAN	ITGAV	HGNC	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	L7RXH0_HUMAN		12	1286	+			UPI000013D12E	337			FG-GAP 5.|Extracellular (Potential).		SNV	ITGAV,missense_variant,p.Gly337Asp,ENST00000261023,NM_002210.4;ITGAV,missense_variant,p.Gly301Asp,ENST00000374907,NM_001145000.2;ITGAV,missense_variant,p.Gly291Asp,ENST00000433736,NM_001144999.2;AC017101.10,non_coding_transcript_exon_variant,,ENST00000453665,;	uc002upq.2	c.1010G>A	1284/7030	2	2			c.1010G>A						2	SNP	c.(1009-1011)GGC>GAC	35	35			ovary(2)|kidney(1)|skin(1)	4	Broad	integrin alpha-V isoform 1 precursor			187506166		0.458	ENSG00000138448	7752	g.chr2:187506166G>A	angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	Melanoma(58;108 1995 6081)		606	Melanoma(58;108 1995 6081)		606	-46.989429	KEEP	3	1	-1	135	119	3	1	-1	7.326667	135	119	0.019139	1	0	0	0	0	1	0	0	0	--	--		0	A			ITGAV_uc010frs.2_Missense_Mutation_p.G301D|ITGAV_uc010zfv.1_Missense_Mutation_p.G291D	33	GBM-06-0168-TP	p.G337D	G	GGCTCTGATGGCAAACTCCAA	NM_002210	NP_002201	187506166	P06756	ITAV_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	12	1286	+	A	A			Missense_Mutation	337			FG-GAP 5.|Extracellular (Potential).			
ITGAX	3687	broad.mit.edu	GRCh37	16	31368588	31368588	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268296.4:c.333C>T	p.Thr111=	p.T111=	ENST00000268296	NM_000887.3	111	acC/acT	0			1			T	T	uc002ebu.1	protein_coding	YES	CCDS10711.1			333/3492									ovary(2)|central_nervous_system(1)|pancreas(1)	4	c.(331-333)ACC>ACT			Superfamily_domains:SSF53300,Superfamily_domains:SSF69318,Gene3D:3nigC00,hmmpanther:PTHR23220:SF17,hmmpanther:PTHR23220,PROSITE_profiles:PS51470	integrin alpha X precursor				ENSP00000268296		30-May	8.26E-06								rs761480055,COSM3402301	30-May	.		ENST00000268296	Transcript			blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	ENSG00000140678	g.chr16:31368588C>T	6152			LOW								--	--	1																																		ITGAX_uc010cao.1_3'UTR|ITGAX_uc002ebt.2_Silent_p.T111T	0,1	1			p.T111T	NM_000887	NP_000878			0,1	ITAX_HUMAN	ITGAX	HGNC	P20702	ITAX_HUMAN			B4DDX0_HUMAN		5	400	+			UPI00001C0366	111			FG-GAP 2.|Extracellular (Potential).		SNV	ITGAX,synonymous_variant,p.=,ENST00000268296,NM_000887.3;ITGAX,synonymous_variant,p.=,ENST00000562522,NM_001286375.1;ITGAX,intron_variant,,ENST00000562918,;ITGAX,non_coding_transcript_exon_variant,,ENST00000567409,;ITGAX,upstream_gene_variant,,ENST00000571644,;ITGAX,downstream_gene_variant,,ENST00000564308,;RP11-120K18.3,downstream_gene_variant,,ENST00000561830,;	uc002ebu.1	c.333C>T	454/4703	2	2			c.333C>T						16	SNP	c.(331-333)ACC>ACT	25	25			ovary(2)|central_nervous_system(1)|pancreas(1)	4	Broad	integrin alpha X precursor			31368588		0.687	ENSG00000140678	7753	g.chr16:31368588C>T	blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity							9.087737	KEEP	1	4	-1	9	9	1	4	-1	11.179158	9	9	0.181818	1	0	0	0	0	0	0	1	0	--	--		0	T			ITGAX_uc010cao.1_3'UTR|ITGAX_uc002ebt.2_Silent_p.T111T	5	GBM-02-2470-TP	p.T111T	C	GCGGCCCCACCGTGCACCACG	NM_000887	NP_000878	31368588	P20702	ITAX_HUMAN	0			5	400	+	T	T			Silent	111			FG-GAP 2.|Extracellular (Potential).			
ITGAX	3687	broad.mit.edu	GRCh37	16	31392315	31392315	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01	TCGA-06-0195-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268296.4:c.3374C>T	p.Ala1125Val	p.A1125V	ENST00000268296	NM_000887.3	1125	gCg/gTg	0			1			T	A/V	uc002ebu.1	protein_coding	YES	CCDS10711.1			3374/3492									ovary(2)|central_nervous_system(1)|pancreas(1)	4	c.(3373-3375)GCG>GTG			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Prints_domain:PR01185,Gene3D:2k1aA00,hmmpanther:PTHR23220:SF17,hmmpanther:PTHR23220	integrin alpha X precursor				ENSP00000268296		29/30	6.59E-05	9.64E-05		0.000116		6.01E-05		0.000122	rs771872674,COSM3402304	29/30	.		ENST00000268296	Transcript			blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	ENSG00000140678	g.chr16:31392315C>T	6152			MODERATE		1.57	low	getma.org/?cm=msa&ty=f&p=ITAX_HUMAN&rb=1033&re=1128&var=A1125V	NA	getma.org/?cm=var&var=hg19,16,31392315,C,T&fts=all	A1125V	--	--	1																																		ITGAX_uc002ebt.2_Missense_Mutation_p.A1125V	0,1	1		possibly_damaging(0.611)	p.A1125V	NM_000887	NP_000878		deleterious(0.04)	0,1	ITAX_HUMAN	ITGAX	HGNC	P20702	ITAX_HUMAN			B4DDX0_HUMAN		29	3441	+			UPI00001C0366	1125			Helical; (Potential).		SNV	ITGAX,missense_variant,p.Ala1125Val,ENST00000268296,NM_000887.3;ITGAX,missense_variant,p.Ala1125Val,ENST00000562522,NM_001286375.1;ITGAX,non_coding_transcript_exon_variant,,ENST00000571644,;	uc002ebu.1	c.3374C>T	3495/4703	2	2			c.3374C>T						16	SNP	c.(3373-3375)GCG>GTG	43	43			ovary(2)|central_nervous_system(1)|pancreas(1)	4	Broad	integrin alpha X precursor			31392315		0.542	ENSG00000140678	7753	g.chr16:31392315C>T	blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity							132.422313	KEEP	27	20	-1	21	25	27	20	-1	132.422313	21	25	0.5	1	0	0	0	0	1	0	0	0	--	--		0	T			ITGAX_uc002ebt.2_Missense_Mutation_p.A1125V	45	GBM-06-0195-TP	p.A1125V	C	CTCATCACAGCGGTACTGTAC	NM_000887	NP_000878	31392315	P20702	ITAX_HUMAN	0			29	3441	+	T	T			Missense_Mutation	1125			Helical; (Potential).			
ITGAX	3687	broad.mit.edu	GRCh37	16	31382999	31382999	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs146647978	byFrequency	TCGA-06-2562-01	TCGA-06-2562-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268296.4:c.2054G>A	p.Arg685His	p.R685H	ENST00000268296	NM_000887.3	685	cGc/cAc	0	T:0		1			A	R/H	uc002ebu.1	protein_coding	YES	CCDS10711.1			2054/3492									ovary(2)|central_nervous_system(1)|pancreas(1)	4	c.(2053-2055)CGC>CAC			Superfamily_domains:SSF69179,Pfam_domain:PF08441,Gene3D:1jv2A02,hmmpanther:PTHR23220:SF17,hmmpanther:PTHR23220	integrin alpha X precursor			T:0.0005	ENSP00000268296		17/30	0.000313					0.000555	0.00111		rs146647978,COSM703158	17/30	common_variant		ENST00000268296	Transcript			blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	ENSG00000140678	g.chr16:31382999G>A	6152			MODERATE		2.56	medium	getma.org/?cm=msa&ty=f&p=ITAX_HUMAN&rb=615&re=1032&var=R685H	getma.org/pdb.php?prot=ITAX_HUMAN&from=615&to=1032&var=R685H	getma.org/?cm=var&var=hg19,16,31382999,G,A&fts=all	R685H	--	--	1																																		ITGAX_uc002ebt.2_Missense_Mutation_p.R685H	0,1	1		benign(0.187)	p.R685H	NM_000887	NP_000878		deleterious(0.04)	0,1	ITAX_HUMAN	ITGAX	HGNC	P20702	ITAX_HUMAN			B4DDX0_HUMAN		17	2121	+			UPI00001C0366	685			Extracellular (Potential).		SNV	ITGAX,missense_variant,p.Arg685His,ENST00000268296,NM_000887.3;ITGAX,missense_variant,p.Arg685His,ENST00000562522,NM_001286375.1;ITGAX,non_coding_transcript_exon_variant,,ENST00000571644,;ITGAX,non_coding_transcript_exon_variant,,ENST00000562138,;	uc002ebu.1	c.2054G>A	2175/4703	2	2			c.2054G>A						16	SNP	c.(2053-2055)CGC>CAC	28	28			ovary(2)|central_nervous_system(1)|pancreas(1)	4	Broad	integrin alpha X precursor			31382999		0.607	ENSG00000140678	7753	g.chr16:31382999G>A	blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity							132.236535	KEEP	22	33	-1	36	53	22	33	-1	134.10191	36	53	0.370079	1	0	0	0	0	1	0	0	0	--	--		0	A			ITGAX_uc002ebt.2_Missense_Mutation_p.R685H	85	GBM-06-2562-TP	p.R685H	G	GACCCTGGCCGCCTGAGTCCC	NM_000887	NP_000878	31382999	P20702	ITAX_HUMAN	0			17	2121	+	A	A			Missense_Mutation	685			Extracellular (Potential).			
ITGAX	3687	broad.mit.edu	GRCh37	16	31374348	31374348	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2564-01	TCGA-06-2564-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268296.4:c.1452C>T	p.Tyr484=	p.Y484=	ENST00000268296	NM_000887.3	484	taC/taT	0	T:0	T:0	1	T:0.0014		T	Y	uc002ebu.1	protein_coding	YES	CCDS10711.1			1452/3492									ovary(2)|central_nervous_system(1)|pancreas(1)	4	c.(1450-1452)TAC>TAT			Superfamily_domains:SSF69318,SMART_domains:SM00191,Gene3D:3nigC00,hmmpanther:PTHR23220:SF17,hmmpanther:PTHR23220,PROSITE_profiles:PS51470	integrin alpha X precursor		T:0	T:0.0002	ENSP00000268296	T:0	13/30	0.00028		0.000173			0.000273		0.000856	rs199963723,COSM1158335	13/30	common_variant		ENST00000268296	Transcript		T:0.0004	blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	ENSG00000140678	g.chr16:31374348C>T	6152			LOW								--	--	1																																		ITGAX_uc002ebt.2_Silent_p.Y484Y|ITGAX_uc010vfk.1_Silent_p.Y134Y	0,1	1			p.Y484Y	NM_000887	NP_000878	T:0.001		0,1	ITAX_HUMAN	ITGAX	HGNC	P20702	ITAX_HUMAN			B4DDX0_HUMAN		13	1519	+			UPI00001C0366	484			FG-GAP 5.|Extracellular (Potential).		SNV	ITGAX,synonymous_variant,p.=,ENST00000268296,NM_000887.3;ITGAX,synonymous_variant,p.=,ENST00000562522,NM_001286375.1;ITGAX,non_coding_transcript_exon_variant,,ENST00000571644,;RP11-120K18.3,upstream_gene_variant,,ENST00000561830,;	uc002ebu.1	c.1452C>T	1573/4703	2	2			c.1452C>T						16	SNP	c.(1450-1452)TAC>TAT	32	32			ovary(2)|central_nervous_system(1)|pancreas(1)	4	Broad	integrin alpha X precursor			31374348		0.677	ENSG00000140678	7753	g.chr16:31374348C>T	blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity							109.901868	KEEP	22	24	-1	40	34	22	24	-1	111.839788	40	34	0.357798	1	0	0	0	0	0	0	1	0	--	--		0	T			ITGAX_uc002ebt.2_Silent_p.Y484Y|ITGAX_uc010vfk.1_Silent_p.Y134Y	87	GBM-06-2564-TP	p.Y484Y	C	CCCATTACTACGAGCAGACCC	NM_000887	NP_000878	31374348	P20702	ITAX_HUMAN	0			13	1519	+	T	T			Silent	484			FG-GAP 5.|Extracellular (Potential).			
ITGAX	0	broad.mit.edu	GRCh37	16	31384692	31384692	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-5299-01	TCGA-12-5299-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268296.4:c.2489G>A	p.Arg830His	p.R830H	ENST00000268296	NM_000887.3	830	cGc/cAc	0		A:0.0008	1	A:0		A	R/H	uc002ebu.1	protein_coding	YES	CCDS10711.1			2489/3492									ovary(2)|central_nervous_system(1)|pancreas(1)	4	c.(2488-2490)CGC>CAC			Superfamily_domains:SSF69179,Pfam_domain:PF08441,Gene3D:2.60.40.1510,hmmpanther:PTHR23220:SF17,hmmpanther:PTHR23220	integrin alpha X precursor		A:0		ENSP00000268296	A:0	20/30									rs200320669,COSM2918027	20/30	.		ENST00000268296	Transcript		A:0.0002	blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	ENSG00000140678	g.chr16:31384692G>A	6152			MODERATE		2.25	medium	getma.org/?cm=msa&ty=f&p=ITAX_HUMAN&rb=615&re=1032&var=R830H	getma.org/pdb.php?prot=ITAX_HUMAN&from=615&to=1032&var=R830H	getma.org/?cm=var&var=hg19,16,31384692,G,A&fts=all	R830H	--	--	1																																		ITGAX_uc002ebt.2_Missense_Mutation_p.R830H	0,1	1		probably_damaging(0.937)	p.R830H	NM_000887	NP_000878	A:0	deleterious(0)	0,1	ITAX_HUMAN	ITGAX	HGNC	P20702	ITAX_HUMAN			B4DDX0_HUMAN		20	2556	+			UPI00001C0366	830			Extracellular (Potential).		SNV	ITGAX,missense_variant,p.Arg830His,ENST00000268296,NM_000887.3;ITGAX,missense_variant,p.Arg830His,ENST00000562522,NM_001286375.1;ITGAX,intron_variant,,ENST00000571644,;ITGAX,downstream_gene_variant,,ENST00000562138,;	uc002ebu.1	c.2489G>A	2610/4703	2	2			c.2489G>A						16	SNP	c.(2488-2490)CGC>CAC	24	24			ovary(2)|central_nervous_system(1)|pancreas(1)	4	Broad	integrin alpha X precursor			31384692		0.622	ENSG00000140678	7753	g.chr16:31384692G>A	blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity							130.949928	KEEP	29	37	-1	40	40	29	37	-1	131.818898	40	40	0.405405	1	0	0	0	0	1	0	0	0	--	--		0	A			ITGAX_uc002ebt.2_Missense_Mutation_p.R830H	130	GBM-12-5299-TP	p.R830H	G	CTGTCCTACCGCTACGTGGCA	NM_000887	NP_000878	31384692	P20702	ITAX_HUMAN	0			20	2556	+	A	A			Missense_Mutation	830			Extracellular (Potential).			
ITGAX	0	broad.mit.edu	GRCh37	16	31373991	31373991	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01	TCGA-19-2631-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268296.4:c.1276C>T	p.Arg426Cys	p.R426C	ENST00000268296	NM_000887.3	426	Cgc/Tgc	0	T:0	T:0	1	T:0		T	R/C	uc002ebu.1	protein_coding	YES	CCDS10711.1			1276/3492									ovary(2)|central_nervous_system(1)|pancreas(1)	4	c.(1276-1278)CGC>TGC			Prints_domain:PR01185,Superfamily_domains:SSF69318,SMART_domains:SM00191,Gene3D:3nigC00,hmmpanther:PTHR23220:SF17,hmmpanther:PTHR23220,PROSITE_profiles:PS51470	integrin alpha X precursor		T:0.001	T:0.0001	ENSP00000268296	T:0	30-Dec	0.000157	0.000103		0.0014	0.000157	7.76E-05			rs201384441,COSM2156423	30-Dec	common_variant		ENST00000268296	Transcript		T:0.0002	blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	ENSG00000140678	g.chr16:31373991C>T	6152			MODERATE		4.12	high	getma.org/?cm=msa&ty=f&p=ITAX_HUMAN&rb=330&re=520&var=R426C	getma.org/pdb.php?prot=ITAX_HUMAN&from=330&to=520&var=R426C	getma.org/?cm=var&var=hg19,16,31373991,C,T&fts=all	R426C	--	--	1																																		ITGAX_uc002ebt.2_Missense_Mutation_p.R426C|ITGAX_uc010vfk.1_Missense_Mutation_p.R76C	0,1	1		probably_damaging(1)	p.R426C	NM_000887	NP_000878	T:0	deleterious(0)	0,1	ITAX_HUMAN	ITGAX	HGNC	P20702	ITAX_HUMAN			B4DDX0_HUMAN		12	1343	+			UPI00001C0366	426			FG-GAP 4.|Extracellular (Potential).		SNV	ITGAX,missense_variant,p.Arg426Cys,ENST00000268296,NM_000887.3;ITGAX,missense_variant,p.Arg426Cys,ENST00000562522,NM_001286375.1;ITGAX,downstream_gene_variant,,ENST00000562918,;ITGAX,non_coding_transcript_exon_variant,,ENST00000571644,;ITGAX,downstream_gene_variant,,ENST00000567409,;RP11-120K18.3,upstream_gene_variant,,ENST00000561830,;	uc002ebu.1	c.1276C>T	1397/4703	2	2			c.1276C>T						16	SNP	c.(1276-1278)CGC>TGC	35	35			ovary(2)|central_nervous_system(1)|pancreas(1)	4	Broad	integrin alpha X precursor			31373991		0.657	ENSG00000140678	7753	g.chr16:31373991C>T	blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity							77.356155	KEEP	17	11	-1	22	20	17	11	-1	77.64919	22	20	0.421053	1	0	0	0	0	1	0	0	0	--	--		0	T			ITGAX_uc002ebt.2_Missense_Mutation_p.R426C|ITGAX_uc010vfk.1_Missense_Mutation_p.R76C	167	GBM-19-2631-TP	p.R426C	C	GGGGGCCCCCCGCTACCAGCA	NM_000887	NP_000878	31373991	P20702	ITAX_HUMAN	0			12	1343	+	T	T			Missense_Mutation	426			FG-GAP 4.|Extracellular (Potential).			
ITGAX	0	broad.mit.edu	GRCh37	16	31388543	31388543	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-26-5133-01	TCGA-26-5133-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268296.4:c.2746C>A	p.Leu916Met	p.L916M	ENST00000268296	NM_000887.3	916	Ctg/Atg	0			1			A	L/M	uc002ebu.1	protein_coding	YES	CCDS10711.1			2746/3492									ovary(2)|central_nervous_system(1)|pancreas(1)	4	c.(2746-2748)CTG>ATG			Superfamily_domains:SSF69179,Pfam_domain:PF08441,Gene3D:2.60.40.1510,hmmpanther:PTHR23220:SF17,hmmpanther:PTHR23220	integrin alpha X precursor				ENSP00000268296		23/30									COSM3402303	23/30	.		ENST00000268296	Transcript			blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	ENSG00000140678	g.chr16:31388543C>A	6152			MODERATE		2.525	medium	getma.org/?cm=msa&ty=f&p=ITAX_HUMAN&rb=615&re=1032&var=L916M	getma.org/pdb.php?prot=ITAX_HUMAN&from=615&to=1032&var=L916M	getma.org/?cm=var&var=hg19,16,31388543,C,A&fts=all	L916M	--	--	1																																		ITGAX_uc002ebt.2_Missense_Mutation_p.L916M	1	1		probably_damaging(1)	p.L916M	NM_000887	NP_000878		deleterious(0.05)	1	ITAX_HUMAN	ITGAX	HGNC	P20702	ITAX_HUMAN			B4DDX0_HUMAN		23	2813	+			UPI00001C0366	916			Extracellular (Potential).		SNV	ITGAX,missense_variant,p.Leu916Met,ENST00000268296,NM_000887.3;ITGAX,missense_variant,p.Leu916Met,ENST00000562522,NM_001286375.1;ITGAX,non_coding_transcript_exon_variant,,ENST00000571644,;ITGAX,downstream_gene_variant,,ENST00000562138,;	uc002ebu.1	c.2746C>A	2867/4703	2	2			c.2746C>A						16	SNP	c.(2746-2748)CTG>ATG	34	34			ovary(2)|central_nervous_system(1)|pancreas(1)	4	Broad	integrin alpha X precursor			31388543		0.537	ENSG00000140678	7753	g.chr16:31388543C>A	blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity							-48.472671	KEEP	3	3	0.5	133	146	3	3	0.5	10.151787	133	146	0.025532	1	0	0	0	0	1	0	0	0	--	--		0	A			ITGAX_uc002ebt.2_Missense_Mutation_p.L916M	182	GBM-26-5133-TP	p.L916M	C	CACCTTCCAGCTGGAGCTCCC	NM_000887	NP_000878	31388543	P20702	ITAX_HUMAN	0			23	2813	+	A	A			Missense_Mutation	916			Extracellular (Potential).			
ITGAX	0	broad.mit.edu	GRCh37	16	31383748	31383748	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01	TCGA-76-6192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268296.4:c.2210C>T	p.Thr737Met	p.T737M	ENST00000268296	NM_000887.3	737	aCg/aTg	0			1			T	T/M	uc002ebu.1	protein_coding	YES	CCDS10711.1			2210/3492									ovary(2)|central_nervous_system(1)|pancreas(1)	4	c.(2209-2211)ACG>ATG			Prints_domain:PR01185,Superfamily_domains:SSF69179,Pfam_domain:PF08441,Gene3D:1jv2A02,hmmpanther:PTHR23220:SF17,hmmpanther:PTHR23220	integrin alpha X precursor				ENSP00000268296		18/30	8.24E-06					1.50E-05			rs777199815,COSM3402302	18/30	.		ENST00000268296	Transcript			blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	ENSG00000140678	g.chr16:31383748C>T	6152			MODERATE		1.385	low	getma.org/?cm=msa&ty=f&p=ITAX_HUMAN&rb=615&re=1032&var=T737M	getma.org/pdb.php?prot=ITAX_HUMAN&from=615&to=1032&var=T737M	getma.org/?cm=var&var=hg19,16,31383748,C,T&fts=all	T737M	--	--	1																																		ITGAX_uc002ebt.2_Missense_Mutation_p.T737M	0,1	1		possibly_damaging(0.739)	p.T737M	NM_000887	NP_000878		deleterious(0.04)	0,1	ITAX_HUMAN	ITGAX	HGNC	P20702	ITAX_HUMAN			B4DDX0_HUMAN		18	2277	+			UPI00001C0366	737			Extracellular (Potential).		SNV	ITGAX,missense_variant,p.Thr737Met,ENST00000268296,NM_000887.3;ITGAX,missense_variant,p.Thr737Met,ENST00000562522,NM_001286375.1;ITGAX,non_coding_transcript_exon_variant,,ENST00000562138,;ITGAX,intron_variant,,ENST00000571644,;	uc002ebu.1	c.2210C>T	2331/4703	2	2			c.2210C>T						16	SNP	c.(2209-2211)ACG>ATG	45	45			ovary(2)|central_nervous_system(1)|pancreas(1)	4	Broad	integrin alpha X precursor			31383748		0.642	ENSG00000140678	7753	g.chr16:31383748C>T	blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity							79.469238	KEEP	15	17	-1	36	40	15	17	-1	82.666133	36	40	0.305263	1	0	0	0	0	1	0	0	0	--	--		0	T			ITGAX_uc002ebt.2_Missense_Mutation_p.T737M	275	GBM-76-6192-TP	p.T737M	C	CTGAACTTCACGCTGGTGGGC	NM_000887	NP_000878	31383748	P20702	ITAX_HUMAN	0			18	2277	+	T	T			Missense_Mutation	737			Extracellular (Potential).			
ITGB1	0	broad.mit.edu	GRCh37	10	33211272	33211272	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302278.3:c.1041G>T	p.Glu347Asp	p.E347D	ENST00000302278	NM_002211.3	347	gaG/gaT	0			1			A	E/D	uc001iws.3	protein_coding		CCDS7174.1			1041/2397									upper_aerodigestive_tract(1)|ovary(1)	2	c.(1039-1041)GAG>GAT			Gene3D:3.40.50.410,Pfam_domain:PF00362,PIRSF_domain:PIRSF002512,hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF28,SMART_domains:SM00187,Superfamily_domains:SSF53300	integrin beta 1 isoform 1A precursor				ENSP00000303351		16-Sep									COSM3397096,COSM3397097,COSM3397098	16-Sep	.		ENST00000302278	Transcript			axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	ENSG00000150093	g.chr10:33211272C>A	6153			MODERATE		1.77	low	getma.org/?cm=msa&ty=f&p=ITB1_HUMAN&rb=34&re=464&var=E347D	getma.org/pdb.php?prot=ITB1_HUMAN&from=34&to=464&var=E347D	getma.org/?cm=var&var=hg19,10,33211272,C,A&fts=all	E347D	--	--	1																																		ITGB1_uc001iwp.3_Missense_Mutation_p.E347D|ITGB1_uc001iwq.3_Missense_Mutation_p.E347D|ITGB1_uc001iwr.3_Missense_Mutation_p.E347D|ITGB1_uc001iwt.3_Missense_Mutation_p.E347D|ITGB1_uc001iwu.1_Missense_Mutation_p.E347D	1,1,1			probably_damaging(0.932)	p.E347D	NM_133376	NP_596867		tolerated(0.07)	1,1,1	ITB1_HUMAN	ITGB1	HGNC	P05556	ITB1_HUMAN			Q5T3E6_HUMAN,Q5T3E5_HUMAN,Q5T3E4_HUMAN,E9PQJ2_HUMAN,E9PLR6_HUMAN,E7ERX5_HUMAN,E7EQW5_HUMAN,C9JPK5_HUMAN,C9JJP8_HUMAN		9	1177	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	UPI0000070EEB	347			Extracellular (Potential).|VWFA.		SNV	ITGB1,missense_variant,p.Glu347Asp,ENST00000396033,NM_133376.2;ITGB1,missense_variant,p.Glu347Asp,ENST00000374956,;ITGB1,missense_variant,p.Glu347Asp,ENST00000423113,NM_033668.2;ITGB1,missense_variant,p.Glu347Asp,ENST00000302278,NM_002211.3;ITGB1,downstream_gene_variant,,ENST00000484088,;	uc001iws.3	c.1041G>T	1106/3640	2	2			c.1041G>T						10	SNP	c.(1039-1041)GAG>GAT	44	44			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	integrin beta 1 isoform 1A precursor			33211272		0.348	ENSG00000150093	7754	g.chr10:33211272C>A	axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			377			377	-5.628185	KEEP	2	2	0.5	25	37	2	2	0.5	6.983582	25	37	0.050847	1	0	0	0	0	1	0	0	0	--	--		0	A			ITGB1_uc001iwp.3_Missense_Mutation_p.E347D|ITGB1_uc001iwq.3_Missense_Mutation_p.E347D|ITGB1_uc001iwr.3_Missense_Mutation_p.E347D|ITGB1_uc001iwt.3_Missense_Mutation_p.E347D|ITGB1_uc001iwu.1_Missense_Mutation_p.E347D	160	GBM-19-1790-TP	p.E347D	C	AGTTTTTCAGCTCCTGCAATT	NM_133376	NP_596867	33211272	P05556	ITB1_HUMAN	0			9	1177	-	A	A		Ovarian(717;1.34e-05)|Breast(68;0.0634)	Missense_Mutation	347			Extracellular (Potential).|VWFA.			
ITGB1BP1	9270	broad.mit.edu	GRCh37	2	9547680	9547681	+	frameshift_variant	Frame_Shift_Del	DEL	AC	AC	-			TCGA-06-0129-01	TCGA-06-0129-01	AC	AC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360635.3:c.428_429del	p.Cys143LeufsTer3	p.C143Lfs*3	ENST00000360635		143	tGT/t	0			1			-	C/X	uc002qzj.2	protein_coding		CCDS1662.1			428-429/603										0	c.(427-429)TGTfs			hmmpanther:PTHR32055,hmmpanther:PTHR32055:SF1,Pfam_domain:PF10480,Gene3D:2.30.29.30,SMART_domains:SM00462,Superfamily_domains:SSF50729	integrin cytoplasmic domain-associated protein 1				ENSP00000347504		7-Jun										7-Jun	.		ENST00000355346	Transcript			cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding|protein binding	ENSG00000119185	g.chr2:9547680_9547681delAC	23927			HIGH								--	--	1																																		ITGB1BP1_uc002qzk.2_Intron|ITGB1BP1_uc002qzl.2_Intron|ITGB1BP1_uc002qzm.2_RNA|ITGB1BP1_uc010yiy.1_Frame_Shift_Del_p.C99fs|ITGB1BP1_uc002qzn.1_Frame_Shift_Del_p.C143fs					p.C143fs	NM_004763	NP_004754				ITBP1_HUMAN	ITGB1BP1	HGNC	O14713	ITBP1_HUMAN		Epithelial(75;0.23)	C9JZ07_HUMAN,C9JBU8_HUMAN,C9J6Y2_HUMAN,C9J5T5_HUMAN,C9J0J6_HUMAN,C9IZZ8_HUMAN		6	605_606	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		UPI000012DA43	143			PID.		deletion	ITGB1BP1,frameshift_variant,p.Cys143LeufsTer3,ENST00000360635,;ITGB1BP1,frameshift_variant,p.Cys143LeufsTer3,ENST00000359712,;ITGB1BP1,frameshift_variant,p.Cys143LeufsTer3,ENST00000355346,NM_004763.3;ITGB1BP1,frameshift_variant,p.Cys143LeufsTer3,ENST00000456913,;ITGB1BP1,intron_variant,,ENST00000238091,NM_022334.3;ITGB1BP1,intron_variant,,ENST00000488451,;ASAP2,downstream_gene_variant,,ENST00000281419,NM_003887.2;ASAP2,downstream_gene_variant,,ENST00000315273,NM_001135191.1;ITGB1BP1,downstream_gene_variant,,ENST00000492079,;ITGB1BP1,downstream_gene_variant,,ENST00000494563,;ITGB1BP1,downstream_gene_variant,,ENST00000460001,;ITGB1BP1,downstream_gene_variant,,ENST00000497105,;ITGB1BP1,downstream_gene_variant,,ENST00000484735,;ITGB1BP1,downstream_gene_variant,,ENST00000467606,;ITGB1BP1,non_coding_transcript_exon_variant,,ENST00000490426,;ITGB1BP1,non_coding_transcript_exon_variant,,ENST00000482798,;ITGB1BP1,intron_variant,,ENST00000497031,;ITGB1BP1,3_prime_UTR_variant,,ENST00000464228,;ITGB1BP1,non_coding_transcript_exon_variant,,ENST00000460720,;ITGB1BP1,intron_variant,,ENST00000483795,;ITGB1BP1,intron_variant,,ENST00000465527,;ITGB1BP1,intron_variant,,ENST00000470507,;ASAP2,downstream_gene_variant,,ENST00000484590,;ITGB1BP1,downstream_gene_variant,,ENST00000463190,;	uc002qzj.2	c.428_429delGT	638-639/1963	5	5			c.428_429delGT						2	DEL	c.(427-429)TGTfs	49	49				0	Broad	integrin cytoplasmic domain-associated protein 1			9547681		0.48	ENSG00000119185	7755	g.chr2:9547680_9547681delAC	cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding|protein binding																				0.16	1	1	0	1	0	0	0	0	0	--	--		0	-			ITGB1BP1_uc002qzk.2_Intron|ITGB1BP1_uc002qzl.2_Intron|ITGB1BP1_uc002qzm.2_RNA|ITGB1BP1_uc010yiy.1_Frame_Shift_Del_p.C99fs|ITGB1BP1_uc002qzn.1_Frame_Shift_Del_p.C143fs	15	GBM-06-0129-TP	p.C143fs	AC	CGTCATCGTAACACACCATCCG	NM_004763	NP_004754	9547680	O14713	ITBP1_HUMAN	0		Epithelial(75;0.23)	6	605_606	-	-	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		Frame_Shift_Del	143			PID.			
ITGB2	3689	broad.mit.edu	GRCh37	21	46320234	46320234	+	splice_donor_variant	Splice_Site	SNP	C	C	T			TCGA-06-0158-01	TCGA-06-0158-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397850.2:c.897+1G>A		p.X299_splice	ENST00000397850		299		0		T:0.0008,T:0.0008	1	T:0,T:0		T		uc002zgd.2	protein_coding		CCDS13716.1			897/2310						pathogenic		p.?(1)	ovary(4)|central_nervous_system(3)|breast(2)	9	c.e6+1				integrin, beta 2 precursor	Simvastatin(DB00641)	T:0,T:0		ENSP00000303242	T:0,T:0		2.47E-05	9.67E-05		0.000231					rs201752283,ITGB2base_D0052:g.21571G>A,COSM35511		.		ENST00000302347	Transcript	1	T:0.0002	apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	ENSG00000160255	g.chr21:46320234C>T	6155			HIGH	15-Jul							--	--	1																																		ITGB2_uc002zge.2_Splice_Site_p.F299_splice|ITGB2_uc002zgf.3_Splice_Site_p.F299_splice|ITGB2_uc011afl.1_Splice_Site_p.F221_splice|ITGB2_uc010gpw.2_Splice_Site_p.F242_splice|ITGB2_uc002zgg.2_Splice_Site_p.F299_splice	1,0,1				p.F299_splice	NM_001127491	NP_001120963	T:0,T:0		0,0,1	ITB2_HUMAN	ITGB2	HGNC	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	Q96PT7_HUMAN,E7EVZ9_HUMAN,E5RK54_HUMAN,E5RK25_HUMAN,E5RIG7_HUMAN,E5RHT0_HUMAN,E5RHE6_HUMAN,E5RFI0_HUMAN		6	941	-			UPI000016A19B						SNV	ITGB2,splice_donor_variant,,ENST00000397850,;ITGB2,splice_donor_variant,,ENST00000302347,NM_000211.3;ITGB2,splice_donor_variant,,ENST00000355153,NM_001127491.1;ITGB2,splice_donor_variant,,ENST00000397857,;ITGB2,splice_donor_variant,,ENST00000397852,;ITGB2,splice_donor_variant,,ENST00000397854,;ITGB2,splice_donor_variant,,ENST00000320216,;ITGB2,downstream_gene_variant,,ENST00000523663,;ITGB2,downstream_gene_variant,,ENST00000522688,;ITGB2,downstream_gene_variant,,ENST00000522931,;ITGB2,downstream_gene_variant,,ENST00000517563,;ITGB2,downstream_gene_variant,,ENST00000521987,;ITGB2,splice_donor_variant,,ENST00000498666,;ITGB2,splice_donor_variant,,ENST00000523323,;ITGB2,downstream_gene_variant,,ENST00000520389,;	uc002zgd.2	c.897_splice	-/2955	5	1			c.897_splice						21	SNP	c.e6+1	1	1		p.?(1)	ovary(4)|central_nervous_system(3)|breast(2)	9	Broad	integrin, beta 2 precursor		Simvastatin(DB00641)	46320234		0.632	ENSG00000160255	7758	g.chr21:46320234C>T	apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity							102.126405	KEEP	24	19	-1	55	30	24	19	-1	104.497941	55	30	0.342593	1	0	0	0	0	0	0	0	1	--	--		0	T			ITGB2_uc002zge.2_Splice_Site_p.F299_splice|ITGB2_uc002zgf.3_Splice_Site_p.F299_splice|ITGB2_uc011afl.1_Splice_Site_p.F221_splice|ITGB2_uc010gpw.2_Splice_Site_p.F242_splice|ITGB2_uc002zgg.2_Splice_Site_p.F299_splice	29	GBM-06-0158-TP	p.F299_splice	C	TGGGGACTTACGAATTCGTTG	NM_001127491	NP_001120963	46320234	P05107	ITB2_HUMAN	0		Colorectal(79;0.0669)	6	941	-	T	T			Splice_Site							
ITGB2	0	broad.mit.edu	GRCh37	21	46320342	46320342	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-15-0742-01	TCGA-15-0742-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302347.5:c.790G>T	p.Asp264Tyr	p.D264Y	ENST00000302347	NM_000211.3	264	Gat/Tat	0			1			A	D/Y	uc002zgd.2	protein_coding		CCDS13716.1			790/2310									ovary(4)|central_nervous_system(3)|breast(2)	9	c.(790-792)GAT>TAT			hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF15,Gene3D:3.40.50.410,Pfam_domain:PF00362,SMART_domains:SM00187,PIRSF_domain:PIRSF002512,Superfamily_domains:SSF53300,Prints_domain:PR01186	integrin, beta 2 precursor	Simvastatin(DB00641)			ENSP00000303242		16-Jul									COSM3405468	16-Jul	.		ENST00000302347	Transcript	1		apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	ENSG00000160255	g.chr21:46320342C>A	6155			MODERATE		3.83	high	getma.org/?cm=msa&ty=f&p=ITB2_HUMAN&rb=32&re=447&var=D264Y	getma.org/pdb.php?prot=ITB2_HUMAN&from=32&to=447&var=D264Y	getma.org/?cm=var&var=hg19,21,46320342,C,A&fts=all	D264Y	--	--	1																																		ITGB2_uc002zge.2_Missense_Mutation_p.D264Y|ITGB2_uc002zgf.3_Missense_Mutation_p.D264Y|ITGB2_uc011afl.1_Missense_Mutation_p.D186Y|ITGB2_uc010gpw.2_Missense_Mutation_p.D207Y|ITGB2_uc002zgg.2_Missense_Mutation_p.D264Y	1			probably_damaging(1)	p.D264Y	NM_001127491	NP_001120963		deleterious(0)	1	ITB2_HUMAN	ITGB2	HGNC	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	Q96PT7_HUMAN,E7EVZ9_HUMAN,E5RK54_HUMAN,E5RK25_HUMAN,E5RIG7_HUMAN,E5RHT0_HUMAN,E5RHE6_HUMAN,E5RFI0_HUMAN		6	834	-			UPI000016A19B	264			Extracellular (Potential).|VWFA.		SNV	ITGB2,missense_variant,p.Asp264Tyr,ENST00000397850,;ITGB2,missense_variant,p.Asp264Tyr,ENST00000302347,NM_000211.3;ITGB2,missense_variant,p.Asp264Tyr,ENST00000355153,NM_001127491.1;ITGB2,missense_variant,p.Asp264Tyr,ENST00000397857,;ITGB2,missense_variant,p.Asp264Tyr,ENST00000397852,;ITGB2,missense_variant,p.Asp207Tyr,ENST00000397854,;ITGB2,missense_variant,p.Asp255Tyr,ENST00000320216,;ITGB2,downstream_gene_variant,,ENST00000523663,;ITGB2,downstream_gene_variant,,ENST00000522688,;ITGB2,downstream_gene_variant,,ENST00000522931,;ITGB2,downstream_gene_variant,,ENST00000517563,;ITGB2,downstream_gene_variant,,ENST00000521987,;ITGB2,3_prime_UTR_variant,,ENST00000523323,;ITGB2,non_coding_transcript_exon_variant,,ENST00000498666,;ITGB2,downstream_gene_variant,,ENST00000520389,;	uc002zgd.2	c.790G>T	1023/2955	1	1			c.790G>T						21	SNP	c.(790-792)GAT>TAT	55	55			ovary(4)|central_nervous_system(3)|breast(2)	9	Broad	integrin, beta 2 precursor		Simvastatin(DB00641)	46320342		0.627	ENSG00000160255	7758	g.chr21:46320342C>A	apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity							60.768412	KEEP	16	14	0.466666667	27	29	16	14	0.466666667	62.798515	27	29	0.324324	1	0	0	0	0	1	0	0	0	--	--		0	A			ITGB2_uc002zge.2_Missense_Mutation_p.D264Y|ITGB2_uc002zgf.3_Missense_Mutation_p.D264Y|ITGB2_uc011afl.1_Missense_Mutation_p.D186Y|ITGB2_uc010gpw.2_Missense_Mutation_p.D207Y|ITGB2_uc002zgg.2_Missense_Mutation_p.D264Y	153	GBM-15-0742-TP	p.D264Y	C	AAGCCGTCATCAGTGGCAAAC	NM_001127491	NP_001120963	46320342	P05107	ITB2_HUMAN	0		Colorectal(79;0.0669)	6	834	-	A	A			Missense_Mutation	264			Extracellular (Potential).|VWFA.			
ITGB2	0	broad.mit.edu	GRCh37	21	46320316	46320316	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5209-01	TCGA-28-5209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302347.5:c.816C>T	p.Asp272=	p.D272=	ENST00000302347	NM_000211.3	272	gaC/gaT	0			1			A	D	uc002zgd.2	protein_coding		CCDS13716.1			816/2310									ovary(4)|central_nervous_system(3)|breast(2)	9	c.(814-816)GAC>GAT			hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF15,Gene3D:3.40.50.410,Pfam_domain:PF00362,SMART_domains:SM00187,PIRSF_domain:PIRSF002512,Superfamily_domains:SSF53300,Prints_domain:PR01186	integrin, beta 2 precursor	Simvastatin(DB00641)			ENSP00000303242		16-Jul	2.47E-05	9.65E-05				1.50E-05		6.06E-05	rs779979379,COSM1414460	16-Jul	.		ENST00000302347	Transcript	1		apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	ENSG00000160255	g.chr21:46320316G>A	6155			LOW								--	--	1																																		ITGB2_uc002zge.2_Silent_p.D272D|ITGB2_uc002zgf.3_Silent_p.D272D|ITGB2_uc011afl.1_Silent_p.D194D|ITGB2_uc010gpw.2_Silent_p.D215D|ITGB2_uc002zgg.2_Silent_p.D272D	0,1				p.D272D	NM_001127491	NP_001120963			0,1	ITB2_HUMAN	ITGB2	HGNC	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	Q96PT7_HUMAN,E7EVZ9_HUMAN,E5RK54_HUMAN,E5RK25_HUMAN,E5RIG7_HUMAN,E5RHT0_HUMAN,E5RHE6_HUMAN,E5RFI0_HUMAN		6	860	-			UPI000016A19B	272			Extracellular (Potential).|VWFA.		SNV	ITGB2,synonymous_variant,p.=,ENST00000397850,;ITGB2,synonymous_variant,p.=,ENST00000302347,NM_000211.3;ITGB2,synonymous_variant,p.=,ENST00000355153,NM_001127491.1;ITGB2,synonymous_variant,p.=,ENST00000397857,;ITGB2,synonymous_variant,p.=,ENST00000397852,;ITGB2,synonymous_variant,p.=,ENST00000397854,;ITGB2,synonymous_variant,p.=,ENST00000320216,;ITGB2,downstream_gene_variant,,ENST00000523663,;ITGB2,downstream_gene_variant,,ENST00000522688,;ITGB2,downstream_gene_variant,,ENST00000522931,;ITGB2,downstream_gene_variant,,ENST00000517563,;ITGB2,downstream_gene_variant,,ENST00000521987,;ITGB2,3_prime_UTR_variant,,ENST00000523323,;ITGB2,non_coding_transcript_exon_variant,,ENST00000498666,;ITGB2,downstream_gene_variant,,ENST00000520389,;	uc002zgd.2	c.816C>T	1049/2955	1	1			c.816C>T						21	SNP	c.(814-816)GAC>GAT	53	53			ovary(4)|central_nervous_system(3)|breast(2)	9	Broad	integrin, beta 2 precursor		Simvastatin(DB00641)	46320316		0.632	ENSG00000160255	7758	g.chr21:46320316G>A	apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity							152.876569	KEEP	31	26	-1	33	50	31	26	-1	153.476854	33	50	0.427481	1	0	0	0	0	0	0	1	0	--	--		0	A			ITGB2_uc002zge.2_Silent_p.D272D|ITGB2_uc002zgf.3_Silent_p.D272D|ITGB2_uc011afl.1_Silent_p.D194D|ITGB2_uc010gpw.2_Silent_p.D215D|ITGB2_uc002zgg.2_Silent_p.D272D	218	GBM-28-5209-TP	p.D272D	G	CCAGCTTCCCGTCGCCCGCGA	NM_001127491	NP_001120963	46320316	P05107	ITB2_HUMAN	0		Colorectal(79;0.0669)	6	860	-	A	A			Silent	272			Extracellular (Potential).|VWFA.			
ITGB2	3689		GRCh37	21	46330269	46330269	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0151-01	TCGA-06-0151-01																				ENST00000397850.2:c.77C>T	p.Thr26Met	p.T26M	ENST00000397850		26	aCg/aTg	0																																																																																																																																																																																																																																												
ITGB2	3689		GRCh37	21	46326937	46326937	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0167-01	TCGA-06-0167-01																				ENST00000397850.2:c.221C>T	p.Ala74Val	p.A74V	ENST00000397850		74	gCg/gTg	0																																																																																																																																																																																																																																												
ITGB3	3690		GRCh37	17	45376748	45376748	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000559488.1:c.1765C>T	p.Arg589Cys	p.R589C	ENST00000559488	NM_000212.2	589	Cgt/Tgt	0																																																																																																																																																																																																																																												
ITGB4	3691	broad.mit.edu	GRCh37	17	73729694	73729694	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-02-0033-01	TCGA-02-0033-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000200181.3:c.1578C>T	p.Tyr526=	p.Y526=	ENST00000200181	NM_000213.3	526	taC/taT	0		T:0	1	T:0		T	Y	uc002jpg.2	protein_coding	YES	CCDS11727.1			1578/5469									lung(4)	4	c.(1576-1578)TAC>TAT			hmmpanther:PTHR10082:SF6,hmmpanther:PTHR10082,Gene3D:2.10.25.10,PIRSF_domain:PIRSF002513	integrin beta 4 isoform 1 precursor		T:0.002		ENSP00000200181	T:0	13/40	6.59E-05			0.00058		4.53E-05			rs563096686,COSM2148971,COSM2148972	13/40	common_variant		ENST00000200181	Transcript	1	T:0.0004	cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	ENSG00000132470	g.chr17:73729694C>T	6158			LOW								--	--	1																																		ITGB4_uc002jph.2_Silent_p.Y526Y|ITGB4_uc010dgo.2_Silent_p.Y526Y|ITGB4_uc002jpi.3_Silent_p.Y526Y|ITGB4_uc010dgp.1_Silent_p.Y526Y|ITGB4_uc002jpj.2_Silent_p.Y526Y|ITGB4_uc010wsh.1_Silent_p.Y81Y	0,1,1	1			p.Y526Y	NM_000213	NP_000204	T:0		0,1,1	ITB4_HUMAN	ITGB4	HGNC	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)				13	1765	+	all_cancers(13;1.5e-07)		UPI00001AE5C0	526			II.|Extracellular (Potential).|Cysteine-rich tandem repeats.		SNV	ITGB4,synonymous_variant,p.=,ENST00000200181,NM_000213.3;ITGB4,synonymous_variant,p.=,ENST00000339591,;ITGB4,synonymous_variant,p.=,ENST00000449880,NM_001005619.1;ITGB4,synonymous_variant,p.=,ENST00000450894,NM_001005731.1;ITGB4,synonymous_variant,p.=,ENST00000579662,;ITGB4,intron_variant,,ENST00000582629,;ITGB4,non_coding_transcript_exon_variant,,ENST00000584558,;ITGB4,non_coding_transcript_exon_variant,,ENST00000584374,;ITGB4,non_coding_transcript_exon_variant,,ENST00000580542,;	uc002jpg.2	c.1578C>T	1765/5919	2	2			c.1578C>T						17	SNP	c.(1576-1578)TAC>TAT	26	26			lung(4)	4	Broad	integrin beta 4 isoform 1 precursor			73729694		0.642	ENSG00000132470	7761	g.chr17:73729694C>T	cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			754			754	61.89383	KEEP	18	14	-1	64	40	18	14	-1	69.067706	64	40	0.234234	1	0	0	0	0	0	0	1	0	--	--		0	T			ITGB4_uc002jph.2_Silent_p.Y526Y|ITGB4_uc010dgo.2_Silent_p.Y526Y|ITGB4_uc002jpi.3_Silent_p.Y526Y|ITGB4_uc010dgp.1_Silent_p.Y526Y|ITGB4_uc002jpj.2_Silent_p.Y526Y|ITGB4_uc010wsh.1_Silent_p.Y81Y	2	GBM-02-0033-TP	p.Y526Y	C	GTGTGTGCTACGGCGAAGGCC	NM_000213	NP_000204	73729694	P16144	ITB4_HUMAN	0	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		13	1765	+	T	T	all_cancers(13;1.5e-07)		Silent	526			II.|Extracellular (Potential).|Cysteine-rich tandem repeats.			
ITGB4	3691	broad.mit.edu	GRCh37	17	73745120	73745120	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01	TCGA-06-0213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000200181.3:c.3310G>A	p.Asp1104Asn	p.D1104N	ENST00000200181	NM_000213.3	1104	Gac/Aac	0			1			A	D/N	uc002jpg.2	protein_coding	YES	CCDS11727.1			3310/5469									lung(4)	4	c.(3310-3312)GAC>AAC			hmmpanther:PTHR10082:SF6,hmmpanther:PTHR10082,PIRSF_domain:PIRSF002513,Superfamily_domains:SSF141072	integrin beta 4 isoform 1 precursor				ENSP00000200181		27/40									COSM2150810,COSM2150811	27/40	.		ENST00000200181	Transcript	1		cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	ENSG00000132470	g.chr17:73745120G>A	6158			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=ITB4_HUMAN&rb=1085&re=1127&var=D1104N	getma.org/pdb.php?prot=ITB4_HUMAN&from=1085&to=1127&var=D1104N	getma.org/?cm=var&var=hg19,17,73745120,G,A&fts=all	D1104N	--	--	1																																		ITGB4_uc002jph.2_Missense_Mutation_p.D1104N|ITGB4_uc002jpi.3_Missense_Mutation_p.D1104N|ITGB4_uc002jpj.2_Missense_Mutation_p.D1104N	1,1	1		benign(0.005)	p.D1104N	NM_000213	NP_000204		deleterious(0.01)	1,1	ITB4_HUMAN	ITGB4	HGNC	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)				27	3497	+	all_cancers(13;1.5e-07)		UPI00001AE5C0	1104			Cytoplasmic (Potential).		SNV	ITGB4,missense_variant,p.Asp1104Asn,ENST00000200181,NM_000213.3;ITGB4,missense_variant,p.Asp1104Asn,ENST00000339591,;ITGB4,missense_variant,p.Asp1104Asn,ENST00000449880,NM_001005619.1;ITGB4,missense_variant,p.Asp1104Asn,ENST00000450894,NM_001005731.1;ITGB4,missense_variant,p.Asp1104Asn,ENST00000579662,;ITGB4,intron_variant,,ENST00000582629,;GALK1,downstream_gene_variant,,ENST00000225614,;ITGB4,upstream_gene_variant,,ENST00000583327,;ITGB4,non_coding_transcript_exon_variant,,ENST00000584025,;GALK1,downstream_gene_variant,,ENST00000589643,;	uc002jpg.2	c.3310G>A	3497/5919	1	1			c.3310G>A						17	SNP	c.(3310-3312)GAC>AAC	55	55			lung(4)	4	Broad	integrin beta 4 isoform 1 precursor			73745120		0.552	ENSG00000132470	7761	g.chr17:73745120G>A	cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			754			754	21.560338	KEEP	2	8	-1	14	20	2	8	-1	24.147109	14	20	0.230769	1	0	0	0	0	1	0	0	0	--	--		0	A			ITGB4_uc002jph.2_Missense_Mutation_p.D1104N|ITGB4_uc002jpi.3_Missense_Mutation_p.D1104N|ITGB4_uc002jpj.2_Missense_Mutation_p.D1104N	49	GBM-06-0213-TP	p.D1104N	G	CATCATCAGGGACCCAGGTAG	NM_000213	NP_000204	73745120	P16144	ITB4_HUMAN	0	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		27	3497	+	A	A	all_cancers(13;1.5e-07)		Missense_Mutation	1104			Cytoplasmic (Potential).			
ITGB4	0	broad.mit.edu	GRCh37	17	73725429	73725429	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs144968507		TCGA-28-2513-01	TCGA-28-2513-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000200181.3:c.650G>A	p.Arg217Gln	p.R217Q	ENST00000200181	NM_000213.3	217	cGg/cAg	0	A:0		1			A	R/Q	uc002jpg.2	protein_coding	YES	CCDS11727.1			650/5469									lung(4)	4	c.(649-651)CGG>CAG			hmmpanther:PTHR10082:SF6,hmmpanther:PTHR10082,Gene3D:3.40.50.410,Pfam_domain:PF00362,PIRSF_domain:PIRSF002513,SMART_domains:SM00187,Superfamily_domains:SSF53300	integrin beta 4 isoform 1 precursor			A:0.0002	ENSP00000200181		Jul-40	7.41E-05		8.66E-05	0.000116		6.01E-05		0.000182	rs144968507,COSM3403219,COSM3403220	Jul-40	.		ENST00000200181	Transcript	1		cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	ENSG00000132470	g.chr17:73725429G>A	6158			MODERATE		0.79	neutral	getma.org/?cm=msa&ty=f&p=ITB4_HUMAN&rb=37&re=455&var=R217Q	getma.org/pdb.php?prot=ITB4_HUMAN&from=37&to=455&var=R217Q	getma.org/?cm=var&var=hg19,17,73725429,G,A&fts=all	R217Q	--	--	1																																		ITGB4_uc002jph.2_Missense_Mutation_p.R217Q|ITGB4_uc010dgo.2_Missense_Mutation_p.R217Q|ITGB4_uc002jpi.3_Missense_Mutation_p.R217Q|ITGB4_uc010dgp.1_Missense_Mutation_p.R217Q|ITGB4_uc002jpj.2_Missense_Mutation_p.R217Q|ITGB4_uc010wsh.1_5'Flank	0,1,1	1		benign(0.098)	p.R217Q	NM_000213	NP_000204		tolerated(0.16)	0,1,1	ITB4_HUMAN	ITGB4	HGNC	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)				7	837	+	all_cancers(13;1.5e-07)		UPI00001AE5C0	217			VWFA.|Extracellular (Potential).		SNV	ITGB4,missense_variant,p.Arg217Gln,ENST00000200181,NM_000213.3;ITGB4,missense_variant,p.Arg217Gln,ENST00000339591,;ITGB4,missense_variant,p.Arg217Gln,ENST00000449880,NM_001005619.1;ITGB4,missense_variant,p.Arg217Gln,ENST00000450894,NM_001005731.1;ITGB4,missense_variant,p.Arg217Gln,ENST00000579662,;ITGB4,missense_variant,p.Arg79Gln,ENST00000582629,;ITGB4,non_coding_transcript_exon_variant,,ENST00000584558,;ITGB4,upstream_gene_variant,,ENST00000584374,;ITGB4,non_coding_transcript_exon_variant,,ENST00000580542,;	uc002jpg.2	c.650G>A	837/5919	1	1			c.650G>A						17	SNP	c.(649-651)CGG>CAG	54	54			lung(4)	4	Broad	integrin beta 4 isoform 1 precursor			73725429		0.602	ENSG00000132470	7761	g.chr17:73725429G>A	cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			754			754	66.902614	KEEP	15	11	-1	38	33	15	11	-1	71.635985	38	33	0.26087	1	0	0	0	0	1	0	0	0	--	--		0	A			ITGB4_uc002jph.2_Missense_Mutation_p.R217Q|ITGB4_uc010dgo.2_Missense_Mutation_p.R217Q|ITGB4_uc002jpi.3_Missense_Mutation_p.R217Q|ITGB4_uc010dgp.1_Missense_Mutation_p.R217Q|ITGB4_uc002jpj.2_Missense_Mutation_p.R217Q|ITGB4_uc010wsh.1_5'Flank	213	GBM-28-2513-TP	p.R217Q	G	GATGAGTTCCGGAATAAACTG	NM_000213	NP_000204	73725429	P16144	ITB4_HUMAN	0	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		7	837	+	A	A	all_cancers(13;1.5e-07)		Missense_Mutation	217			VWFA.|Extracellular (Potential).			
ITGB6	3694	broad.mit.edu	GRCh37	2	160964323	160964323	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0209-01	TCGA-06-0209-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283249.2:c.2135T>C	p.Met712Thr	p.M712T	ENST00000283249	NM_001282388.1	712	aTg/aCg	0	G:0		1			G	M/T	uc002ubh.2	protein_coding	YES	CCDS2212.1			2135/2367									ovary(1)|lung(1)|skin(1)	3	c.(2134-2136)ATG>ACG			Transmembrane_helices:TMhelix,hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF11,Gene3D:1.20.5.100,PIRSF_domain:PIRSF002512,Prints_domain:PR01186	integrin, beta 6 precursor			G:0.0001	ENSP00000283249		14/15	4.94E-05					9.01E-05			rs367865998,COSM3406967	14/15	.		ENST00000283249	Transcript	1		cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	ENSG00000115221	g.chr2:160964323A>G	6161			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=ITB6_HUMAN&rb=678&re=760&var=M712T	NA	getma.org/?cm=var&var=hg19,2,160964323,A,G&fts=all	M712T	--	--	1																																		ITGB6_uc010fou.2_Missense_Mutation_p.M712T|ITGB6_uc010zcq.1_Missense_Mutation_p.M670T|ITGB6_uc010fov.1_Missense_Mutation_p.M712T	0,1	1		benign(0.027)	p.M712T	NM_000888	NP_000879		deleterious(0)	0,1	ITB6_HUMAN	ITGB6	HGNC	P18564	ITB6_HUMAN					14	2151	-			UPI000012DA13	712			Helical; (Potential).		SNV	ITGB6,missense_variant,p.Met712Thr,ENST00000283249,NM_001282388.1,NM_001282354.1,NM_001282353.1;ITGB6,missense_variant,p.Met670Thr,ENST00000428609,;ITGB6,missense_variant,p.Met712Thr,ENST00000409872,NM_000888.3;ITGB6,missense_variant,p.Met605Thr,ENST00000409967,NM_001282355.1;ITGB6,non_coding_transcript_exon_variant,,ENST00000475438,;ITGB6,3_prime_UTR_variant,,ENST00000409583,NM_001282390.1,NM_001282389.1;	uc002ubh.2	c.2135T>C	2373/4675	3	3			c.2135T>C						2	SNP	c.(2134-2136)ATG>ACG	4	4			ovary(1)|lung(1)|skin(1)	3	Broad	integrin, beta 6 precursor			160964323		0.403	ENSG00000115221	7763	g.chr2:160964323A>G	cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			575			575	-5.230415	KEEP	2	4	-1	45	56	2	4	-1	14.464704	45	56	0.061224	1	0	0	0	0	1	0	0	0	--	--		0	G			ITGB6_uc010fou.2_Missense_Mutation_p.M712T|ITGB6_uc010zcq.1_Missense_Mutation_p.M670T|ITGB6_uc010fov.1_Missense_Mutation_p.M712T	46	GBM-06-0209-TP	p.M712T	A	AACCCCTAACATGATCATGGG	NM_000888	NP_000879	160964323	P18564	ITB6_HUMAN	0			14	2151	-	G	G			Missense_Mutation	712			Helical; (Potential).			
ITGB6	3694	broad.mit.edu	GRCh37	2	161025770	161025770	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0878-01	TCGA-06-0878-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283249.2:c.970G>A	p.Val324Met	p.V324M	ENST00000283249	NM_001282388.1	324	Gtg/Atg	0			1			T	V/M	uc002ubh.2	protein_coding	YES	CCDS2212.1			970/2367									ovary(1)|lung(1)|skin(1)	3	c.(970-972)GTG>ATG			hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF11,Gene3D:3.40.50.410,Pfam_domain:PF00362,PIRSF_domain:PIRSF002512,SMART_domains:SM00187,Superfamily_domains:SSF53300,Prints_domain:PR01186	integrin, beta 6 precursor				ENSP00000283249		15-Jul									rs751699169,COSM2152263	15-Jul	.		ENST00000283249	Transcript	1		cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	ENSG00000115221	g.chr2:161025770C>T	6161			MODERATE		1.23	low	getma.org/?cm=msa&ty=f&p=ITB6_HUMAN&rb=30&re=456&var=V324M	getma.org/pdb.php?prot=ITB6_HUMAN&from=30&to=456&var=V324M	getma.org/?cm=var&var=hg19,2,161025770,C,T&fts=all	V324M	--	--	1																																		ITGB6_uc010fow.1_RNA|ITGB6_uc010fou.2_Missense_Mutation_p.V324M|ITGB6_uc010zcq.1_Missense_Mutation_p.V282M|ITGB6_uc010fov.1_Missense_Mutation_p.V324M	0,1	1		benign(0.058)	p.V324M	NM_000888	NP_000879		deleterious(0.01)	0,1	ITB6_HUMAN	ITGB6	HGNC	P18564	ITB6_HUMAN					7	986	-			UPI000012DA13	324			Extracellular (Potential).|VWFA.		SNV	ITGB6,missense_variant,p.Val324Met,ENST00000283249,NM_001282388.1,NM_001282354.1,NM_001282353.1;ITGB6,missense_variant,p.Val282Met,ENST00000428609,;ITGB6,missense_variant,p.Val324Met,ENST00000409872,NM_000888.3;ITGB6,missense_variant,p.Val324Met,ENST00000409967,NM_001282355.1;ITGB6,non_coding_transcript_exon_variant,,ENST00000485635,;ITGB6,3_prime_UTR_variant,,ENST00000409583,NM_001282390.1,NM_001282389.1;	uc002ubh.2	c.970G>A	1208/4675	2	2			c.970G>A						2	SNP	c.(970-972)GTG>ATG	20	20			ovary(1)|lung(1)|skin(1)	3	Broad	integrin, beta 6 precursor			161025770		0.294	ENSG00000115221	7763	g.chr2:161025770C>T	cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			575			575	262.003947	KEEP	45	54	-1	76	87	45	54	-1	264.382155	76	87	0.38914	1	0	0	0	0	1	0	0	0	--	--		0	T			ITGB6_uc010fow.1_RNA|ITGB6_uc010fou.2_Missense_Mutation_p.V324M|ITGB6_uc010zcq.1_Missense_Mutation_p.V282M|ITGB6_uc010fov.1_Missense_Mutation_p.V324M	74	GBM-06-0878-TP	p.V324M	C	ATCAATAACACGTTGTTTTGT	NM_000888	NP_000879	161025770	P18564	ITB6_HUMAN	0			7	986	-	T	T			Missense_Mutation	324			Extracellular (Potential).|VWFA.			
ITGB6	0	broad.mit.edu	GRCh37	2	160993973	160993973	+	synonymous_variant	Silent	SNP	G	G	A	rs61737765	byFrequency;by1000genomes	TCGA-19-5951-01	TCGA-19-5951-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283249.2:c.1632C>T	p.Cys544=	p.C544=	ENST00000283249	NM_001282388.1	544	tgC/tgT	0	A:0.0052	A:0.0061	1	A:0		A	C	uc002ubh.2	protein_coding	YES	CCDS2212.1			1632/2367									ovary(1)|lung(1)|skin(1)	3	c.(1630-1632)TGC>TGT			hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF11,Gene3D:2.10.25.10,PIRSF_domain:PIRSF002512,Superfamily_domains:SSF57196	integrin, beta 6 precursor		A:0	A:0.0001	ENSP00000283249	A:0	15-Oct	0.000494	0.00558	8.65E-05			1.51E-05			rs61737765,COSM2156595	15-Oct	common_variant		ENST00000283249	Transcript	1	A:0.0016	cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	ENSG00000115221	g.chr2:160993973G>A	6161			LOW								--	--	1																																		ITGB6_uc010fou.2_Silent_p.C544C|ITGB6_uc010zcq.1_Silent_p.C502C|ITGB6_uc010fov.1_Silent_p.C544C	0,1	1			p.C544C	NM_000888	NP_000879	A:0		0,1	ITB6_HUMAN	ITGB6	HGNC	P18564	ITB6_HUMAN					10	1648	-			UPI000012DA13	544			Extracellular (Potential).|III.|Cysteine-rich tandem repeats.		SNV	ITGB6,synonymous_variant,p.=,ENST00000283249,NM_001282388.1,NM_001282354.1,NM_001282353.1;ITGB6,synonymous_variant,p.=,ENST00000428609,;ITGB6,synonymous_variant,p.=,ENST00000409872,NM_000888.3;ITGB6,synonymous_variant,p.=,ENST00000409967,NM_001282355.1;ITGB6,downstream_gene_variant,,ENST00000485635,;ITGB6,3_prime_UTR_variant,,ENST00000409583,NM_001282390.1,NM_001282389.1;	uc002ubh.2	c.1632C>T	1870/4675	2	2			c.1632C>T						2	SNP	c.(1630-1632)TGC>TGT	35	35			ovary(1)|lung(1)|skin(1)	3	Broad	integrin, beta 6 precursor			160993973		0.488	ENSG00000115221	7763	g.chr2:160993973G>A	cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			575			575	115.153728	KEEP	18	25	-1	27	35	18	25	-1	115.825877	27	35	0.408602	1	0	0	0	0	0	0	1	0	--	--		0	A			ITGB6_uc010fou.2_Silent_p.C544C|ITGB6_uc010zcq.1_Silent_p.C502C|ITGB6_uc010fov.1_Silent_p.C544C	171	GBM-19-5951-TP	p.C544C	G	TGTGTCTCACGCAGGAGAAAT	NM_000888	NP_000879	160993973	P18564	ITB6_HUMAN	0			10	1648	-	A	A			Silent	544			Extracellular (Potential).|III.|Cysteine-rich tandem repeats.			
ITGB7	3695	broad.mit.edu	GRCh37	12	53590514	53590514	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0882-01	TCGA-06-0882-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267082.5:c.665G>A	p.Arg222His	p.R222H	ENST00000267082	NM_000889.1	222	cGc/cAc	0			1			T	R/H	uc009zmv.2	protein_coding	YES	CCDS8849.1			665/2397									ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|breast(1)	8	c.(664-666)CGC>CAC			hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF36,Pfam_domain:PF00362,Gene3D:3.40.50.410,SMART_domains:SM00187,PIRSF_domain:PIRSF002512,Superfamily_domains:SSF53300	integrin, beta 7 precursor				ENSP00000267082		16-Jun	0.000313		0.00301			6.46E-05	0.00119		rs755050035,COSM2152366	16-Jun	common_variant		ENST00000267082	Transcript			cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity	ENSG00000139626	g.chr12:53590514C>T	6162			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=ITB7_HUMAN&rb=50&re=476&var=R222H	getma.org/pdb.php?prot=ITB7_HUMAN&from=50&to=476&var=R222H	getma.org/?cm=var&var=hg19,12,53590514,C,T&fts=all	R222H	--	--	1																																		ITGB7_uc001scc.2_Missense_Mutation_p.R222H|ITGB7_uc010snz.1_RNA|ITGB7_uc010soa.1_3'UTR	0,1	1		benign(0.028)	p.R222H	NM_000889	NP_000880		tolerated(0.09)	0,1	ITB7_HUMAN	ITGB7	HGNC	P26010	ITB7_HUMAN			H3BRM2_HUMAN,F8W186_HUMAN,F8VNX4_HUMAN,B7Z506_HUMAN		5	736	-			UPI0000000DF7	222			VWFA.|Extracellular (Potential).		SNV	ITGB7,missense_variant,p.Arg222His,ENST00000267082,NM_000889.1;ITGB7,missense_variant,p.Arg222His,ENST00000422257,;ITGB7,missense_variant,p.Arg222His,ENST00000338737,;ITGB7,missense_variant,p.Arg222His,ENST00000550743,;ITGB7,upstream_gene_variant,,ENST00000551319,;ITGB7,downstream_gene_variant,,ENST00000552972,;ITGB7,downstream_gene_variant,,ENST00000549086,;ITGB7,downstream_gene_variant,,ENST00000552935,;ITGB7,missense_variant,p.Arg222His,ENST00000542497,;ITGB7,non_coding_transcript_exon_variant,,ENST00000589179,;ITGB7,non_coding_transcript_exon_variant,,ENST00000549462,;ITGB7,non_coding_transcript_exon_variant,,ENST00000551887,;ITGB7,non_coding_transcript_exon_variant,,ENST00000549196,;ITGB7,upstream_gene_variant,,ENST00000548706,;ITGB7,upstream_gene_variant,,ENST00000548269,;	uc009zmv.2	c.665G>A	897/2867	2	2			c.665G>A						12	SNP	c.(664-666)CGC>CAC	29	29			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|breast(1)	8	Broad	integrin, beta 7 precursor			53590514		0.622	ENSG00000139626	7764	g.chr12:53590514C>T	cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity							32.810747	KEEP	10	5	-1	8	14	10	5	-1	32.842084	8	14	0.461538	1	0	0	0	0	1	0	0	0	--	--		0	T			ITGB7_uc001scc.2_Missense_Mutation_p.R222H|ITGB7_uc010snz.1_RNA|ITGB7_uc010soa.1_3'UTR	77	GBM-06-0882-TP	p.R222H	C	TGACTGGCAGCGCTCCAGCCG	NM_000889	NP_000880	53590514	P26010	ITB7_HUMAN	0			5	736	-	T	T			Missense_Mutation	222			VWFA.|Extracellular (Potential).			
ITGB8	0	broad.mit.edu	GRCh37	7	20420296	20420296	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-27-2521-01	TCGA-27-2521-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222573.4:c.643A>G	p.Asn215Asp	p.N215D	ENST00000222573	NM_002214.2	215	Aat/Gat	0			1			G	N/D	uc003suu.2	protein_coding	YES	CCDS5370.1			643/2310									skin(3)	3	c.(643-645)AAT>GAT			hmmpanther:PTHR10082:SF9,hmmpanther:PTHR10082,Gene3D:3.40.50.410,Pfam_domain:PF00362,PIRSF_domain:PIRSF002512,SMART_domains:SM00187,Superfamily_domains:SSF53300	integrin, beta 8 precursor				ENSP00000222573		14-May									COSM3411897,COSM3411898	14-May	.		ENST00000222573	Transcript			cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	ENSG00000105855	g.chr7:20420296A>G	6163			MODERATE		0.42	neutral	getma.org/?cm=msa&ty=f&p=ITB8_HUMAN&rb=54&re=469&var=N215D	getma.org/pdb.php?prot=ITB8_HUMAN&from=54&to=469&var=N215D	getma.org/?cm=var&var=hg19,7,20420296,A,G&fts=all	N215D	--	--	1																																		ITGB8_uc011jyh.1_Missense_Mutation_p.N80D|ITGB8_uc003sut.2_Missense_Mutation_p.N215D	1,1	1		benign(0.029)	p.N215D	NM_002214	NP_002205		tolerated(0.62)	1,1	ITB8_HUMAN	ITGB8	HGNC	P26012	ITB8_HUMAN			B4DHD4_HUMAN		5	1348	+			UPI000012DA14	215			VWFA.|Extracellular (Potential).		SNV	ITGB8,missense_variant,p.Asn215Asp,ENST00000222573,NM_002214.2;ITGB8,missense_variant,p.Asn80Asp,ENST00000537992,;SNORD56,downstream_gene_variant,,ENST00000363883,;ITGB8,non_coding_transcript_exon_variant,,ENST00000477859,;ITGB8,non_coding_transcript_exon_variant,,ENST00000478974,;	uc003suu.2	c.643A>G	1327/8751	3	3			c.643A>G						7	SNP	c.(643-645)AAT>GAT	4	4			skin(3)	3	Broad	integrin, beta 8 precursor			20420296		0.388	ENSG00000105855	7765	g.chr7:20420296A>G	cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			842			842	190.701052	KEEP	33	40	-1	60	65	33	40	-1	193.117205	60	65	0.375	1	0	0	0	0	1	0	0	0	--	--		0	G			ITGB8_uc011jyh.1_Missense_Mutation_p.N80D|ITGB8_uc003sut.2_Missense_Mutation_p.N215D	200	GBM-27-2521-TP	p.N215D	A	CAGTGACTACAATTTAGACTG	NM_002214	NP_002205	20420296	P26012	ITB8_HUMAN	0			5	1348	+	G	G			Missense_Mutation	215			VWFA.|Extracellular (Potential).			
ITIH1	0	broad.mit.edu	GRCh37	3	52816072	52816072	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-3649-01	TCGA-12-3649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273283.2:c.804C>T	p.Cys268=	p.C268=	ENST00000273283	NM_002215.3	268	tgC/tgT	0			1			T	C	uc003dfs.2	protein_coding	YES	CCDS2864.1			804/2736									ovary(3)	3	c.(802-804)TGC>TGT			hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF106,Superfamily_domains:SSF53300	inter-alpha (globulin) inhibitor H1				ENSP00000273283		22-Jul	3.29E-05	0.000289		0.000116					rs752722689,COSM3408805	22-Jul	.		ENST00000273283	Transcript			hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	ENSG00000055957	g.chr3:52816072C>T	6166			LOW								--	--	1																																		ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_5'Flank|ITIH1_uc010hmo.1_5'Flank	0,1	1			p.C268C	NM_002215	NP_002206			0,1	ITIH1_HUMAN	ITIH1	HGNC	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)			7	828	+			UPI000012DA1C	268					SNV	ITIH1,synonymous_variant,p.=,ENST00000273283,NM_002215.3;ITIH1,synonymous_variant,p.=,ENST00000542827,;ITIH1,synonymous_variant,p.=,ENST00000540715,NM_001166434.2;ITIH1,5_prime_UTR_variant,,ENST00000537050,NM_001166436.2,NM_001166435.2;ITIH1,upstream_gene_variant,,ENST00000428133,;ITIH1,non_coding_transcript_exon_variant,,ENST00000487686,;ITIH1,non_coding_transcript_exon_variant,,ENST00000478667,;ITIH1,non_coding_transcript_exon_variant,,ENST00000494603,;ITIH1,downstream_gene_variant,,ENST00000480409,;ITIH1,upstream_gene_variant,,ENST00000484844,;	uc003dfs.2	c.804C>T	828/2911	2	2			c.804C>T						3	SNP	c.(802-804)TGC>TGT	47	47			ovary(3)	3	Broad	inter-alpha (globulin) inhibitor H1			52816072		0.587	ENSG00000055957	7767	g.chr3:52816072C>T	hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity							119.168853	KEEP	17	23	-1	33	43	17	23	-1	121.182166	33	43	0.357143	1	0	0	0	0	0	0	1	0	--	--		0	T			ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_5'Flank|ITIH1_uc010hmo.1_5'Flank	125	GBM-12-3649-TP	p.C268C	C	ACAAGATCTGCGACCTCCTGG	NM_002215	NP_002206	52816072	P19827	ITIH1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	7	828	+	T	T			Silent	268						
ITIH1	0	broad.mit.edu	GRCh37	3	52825916	52825916	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-2554-01	TCGA-14-2554-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273283.2:c.2725G>A	p.Asp909Asn	p.D909N	ENST00000273283	NM_002215.3	909	Gac/Aac	0			1			A	D/N	uc003dfs.2	protein_coding	YES	CCDS2864.1			2725/2736									ovary(3)	3	c.(2725-2727)GAC>AAC			hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF106	inter-alpha (globulin) inhibitor H1				ENSP00000273283		22/22	1.65E-05			0.000116					rs752754302,COSM3408807	22/22	.		ENST00000273283	Transcript			hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	ENSG00000055957	g.chr3:52825916G>A	6166			MODERATE		0.92	low	getma.org/?cm=msa&ty=f&p=ITIH1_HUMAN&rb=863&re=911&var=D909N	NA	getma.org/?cm=var&var=hg19,3,52825916,G,A&fts=all	D909N	--	--	1																																		ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_3'UTR|ITIH1_uc010hmo.1_Missense_Mutation_p.D463N|ITIH1_uc003dfu.2_Missense_Mutation_p.D275N|ITIH3_uc003dfv.2_5'Flank|ITIH3_uc011bek.1_5'Flank	0,1	1		benign(0.024)	p.D909N	NM_002215	NP_002206		tolerated(0.41)	0,1	ITIH1_HUMAN	ITIH1	HGNC	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)			22	2749	+			UPI000012DA1C	909			Hyaluronan-binding.		SNV	ITIH1,missense_variant,p.Asp909Asn,ENST00000273283,NM_002215.3;ITIH1,missense_variant,p.Asp767Asn,ENST00000540715,NM_001166434.2;ITIH1,missense_variant,p.Asp621Asn,ENST00000537050,NM_001166436.2,NM_001166435.2;ITIH1,missense_variant,p.Asp462Asn,ENST00000428133,;ITIH1,missense_variant,p.Asp275Asn,ENST00000405128,;ITIH1,3_prime_UTR_variant,,ENST00000542827,;ITIH3,upstream_gene_variant,,ENST00000449956,NM_002217.3;ITIH3,upstream_gene_variant,,ENST00000416872,;ITIH1,non_coding_transcript_exon_variant,,ENST00000494705,;ITIH1,downstream_gene_variant,,ENST00000482836,;ITIH3,upstream_gene_variant,,ENST00000467268,;ITIH1,downstream_gene_variant,,ENST00000484844,;	uc003dfs.2	c.2725G>A	2749/2911	2	2			c.2725G>A						3	SNP	c.(2725-2727)GAC>AAC	22	22			ovary(3)	3	Broad	inter-alpha (globulin) inhibitor H1			52825916		0.607	ENSG00000055957	7767	g.chr3:52825916G>A	hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity							81.314067	KEEP	22	14	-1	39	50	22	14	-1	85.032784	39	50	0.29703	1	0	0	0	0	1	0	0	0	--	--		0	A			ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_3'UTR|ITIH1_uc010hmo.1_Missense_Mutation_p.D463N|ITIH1_uc003dfu.2_Missense_Mutation_p.D275N|ITIH3_uc003dfv.2_5'Flank|ITIH3_uc011bek.1_5'Flank	150	GBM-14-2554-TP	p.D909N	G	TATCGTCCCCGACATCTTCTG	NM_002215	NP_002206	52825916	P19827	ITIH1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	22	2749	+	A	A			Missense_Mutation	909			Hyaluronan-binding.			
ITIH1	0	broad.mit.edu	GRCh37	3	52822082	52822082	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-1442-01	TCGA-26-1442-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273283.2:c.2005G>A	p.Val669Met	p.V669M	ENST00000273283	NM_002215.3	669	Gtg/Atg	0			1			A	V/M	uc003dfs.2	protein_coding	YES	CCDS2864.1			2005/2736									ovary(3)	3	c.(2005-2007)GTG>ATG			hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF106	inter-alpha (globulin) inhibitor H1				ENSP00000273283		17/22	2.47E-05		8.69E-05			3.08E-05			rs746112878,COSM3408806	17/22	.		ENST00000273283	Transcript			hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	ENSG00000055957	g.chr3:52822082G>A	6166			MODERATE		2.97	medium	getma.org/?cm=msa&ty=f&p=ITIH1_HUMAN&rb=475&re=674&var=V669M	NA	getma.org/?cm=var&var=hg19,3,52822082,G,A&fts=all	V669M	--	--	1																																		ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Missense_Mutation_p.V270M|ITIH1_uc010hmo.1_Missense_Mutation_p.V223M|ITIH1_uc003dfu.2_Missense_Mutation_p.V35M	0,1	1		probably_damaging(0.965)	p.V669M	NM_002215	NP_002206		deleterious(0)	0,1	ITIH1_HUMAN	ITIH1	HGNC	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)			17	2029	+			UPI000012DA1C	669			Hyaluronan-binding.		SNV	ITIH1,missense_variant,p.Val669Met,ENST00000273283,NM_002215.3;ITIH1,missense_variant,p.Val527Met,ENST00000540715,NM_001166434.2;ITIH1,missense_variant,p.Val381Met,ENST00000537050,NM_001166436.2,NM_001166435.2;ITIH1,missense_variant,p.Val222Met,ENST00000428133,;ITIH1,missense_variant,p.Val35Met,ENST00000405128,;ITIH1,intron_variant,,ENST00000542827,;ITIH1,downstream_gene_variant,,ENST00000478667,;ITIH1,splice_region_variant,,ENST00000484844,;ITIH1,upstream_gene_variant,,ENST00000482836,;ITIH1,upstream_gene_variant,,ENST00000494705,;ITIH1,downstream_gene_variant,,ENST00000494603,;	uc003dfs.2	c.2005G>A	2029/2911	2	2			c.2005G>A						3	SNP	c.(2005-2007)GTG>ATG	20	20			ovary(3)	3	Broad	inter-alpha (globulin) inhibitor H1			52822082		0.607	ENSG00000055957	7767	g.chr3:52822082G>A	hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity							45.640836	KEEP	8	13	-1	51	41	8	13	-1	55.461236	51	41	0.186916	1	0	0	0	0	1	0	0	0	--	--		0	A			ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Missense_Mutation_p.V270M|ITIH1_uc010hmo.1_Missense_Mutation_p.V223M|ITIH1_uc003dfu.2_Missense_Mutation_p.V35M	180	GBM-26-1442-TP	p.V669M	G	AGTGACCGGCGGTGAGTCCTT	NM_002215	NP_002206	52822082	P19827	ITIH1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	17	2029	+	A	A			Missense_Mutation	669			Hyaluronan-binding.			
ITIH2	0	broad.mit.edu	GRCh37	10	7762869	7762869	+	synonymous_variant	Silent	SNP	C	C	T	rs144114794		TCGA-19-2619-01	TCGA-19-2619-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358415.4:c.681C>T	p.Pro227=	p.P227=	ENST00000358415	NM_002216.2	227	ccC/ccT	0	T:0		1			T	P	uc001ijs.2	protein_coding	YES	CCDS31141.1			681/2841									ovary(1)|pancreas(1)|skin(1)	3	c.(679-681)CCC>CCT			hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF14	inter-alpha globulin inhibitor H2 polypeptide			T:0.0001	ENSP00000351190		21-Jul	7.41E-05					0.00012		6.06E-05	rs144114794,COSM2156156	21-Jul	.		ENST00000358415	Transcript			hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	ENSG00000151655	g.chr10:7762869C>T	6167			LOW								--	--	1																																			0,1	1			p.P227P	NM_002216	NP_002207			0,1	ITIH2_HUMAN	ITIH2	HGNC	P19823	ITIH2_HUMAN					7	843	+			UPI000036665E	227					SNV	ITIH2,synonymous_variant,p.=,ENST00000358415,NM_002216.2;ITIH2,synonymous_variant,p.=,ENST00000379587,;ITIH2,synonymous_variant,p.=,ENST00000429820,;ITIH2,downstream_gene_variant,,ENST00000480387,;	uc001ijs.2	c.681C>T	847/3193	1	1			c.681C>T						10	SNP	c.(679-681)CCC>CCT	4	4			ovary(1)|pancreas(1)|skin(1)	3	Broad	inter-alpha globulin inhibitor H2 polypeptide			7762869		0.453	ENSG00000151655	7768	g.chr10:7762869C>T	hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity							127.301398	KEEP	28	22	-1	59	55	28	22	-1	132.743371	59	55	0.293706	1	0	0	0	0	0	0	1	0	--	--		0	T				161	GBM-19-2619-TP	p.P227P	C	TTCATGTTCCCGACACATTTG	NM_002216	NP_002207	7762869	P19823	ITIH2_HUMAN	0			7	843	+	T	T			Silent	227						
ITIH2	0	broad.mit.edu	GRCh37	10	7759687	7759687	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-26-6174-01	TCGA-26-6174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358415.4:c.566G>T	p.Arg189Met	p.R189M	ENST00000358415	NM_002216.2	189	aGg/aTg	0			1			T	R/M	uc001ijs.2	protein_coding	YES	CCDS31141.1			566/2841									ovary(1)|pancreas(1)|skin(1)	3	c.(565-567)AGG>ATG			hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF14	inter-alpha globulin inhibitor H2 polypeptide				ENSP00000351190		21-Jun									COSM3397257	21-Jun	.		ENST00000358415	Transcript			hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	ENSG00000151655	g.chr10:7759687G>T	6167			MODERATE		3.215	medium	getma.org/?cm=msa&ty=f&p=ITIH2_HUMAN&rb=186&re=309&var=R189M	NA	getma.org/?cm=var&var=hg19,10,7759687,G,T&fts=all	R189M	--	--	1																																			1	1		probably_damaging(0.999)	p.R189M	NM_002216	NP_002207		deleterious(0)	1	ITIH2_HUMAN	ITIH2	HGNC	P19823	ITIH2_HUMAN					6	728	+			UPI000036665E	189					SNV	ITIH2,missense_variant,p.Arg189Met,ENST00000358415,NM_002216.2;ITIH2,missense_variant,p.Arg178Met,ENST00000379587,;ITIH2,missense_variant,p.Arg164Met,ENST00000429820,;ITIH2,non_coding_transcript_exon_variant,,ENST00000480387,;ITIH2,downstream_gene_variant,,ENST00000473227,;	uc001ijs.2	c.566G>T	732/3193	2	2			c.566G>T						10	SNP	c.(565-567)AGG>ATG	34	34			ovary(1)|pancreas(1)|skin(1)	3	Broad	inter-alpha globulin inhibitor H2 polypeptide			7759687		0.522	ENSG00000151655	7768	g.chr10:7759687G>T	hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity							156.484274	KEEP	24	38	0.387096774	58	48	24	38	0.387096774	158.246654	58	48	0.381944	1	0	0	0	0	1	0	0	0	--	--		0	T				188	GBM-26-6174-TP	p.R189M	G	GTGAAGTGGAGGAAGCTGGGC	NM_002216	NP_002207	7759687	P19823	ITIH2_HUMAN	0			6	728	+	T	T			Missense_Mutation	189						
ITIH3	3699	broad.mit.edu	GRCh37	3	52842629	52842629	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01	TCGA-06-0743-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449956.2:c.2605G>A	p.Val869Ile	p.V869I	ENST00000449956	NM_002217.3	869	Gtc/Atc	0	A:0.0002	A:0	1	A:0.0014		A	V/I	uc003dfv.2	protein_coding	YES	CCDS46845.1			2605/2673									ovary(2)|liver(1)	3	c.(2605-2607)GTC>ATC			Pfam_domain:PF06668,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF24	inter-alpha (globulin) inhibitor H3		A:0	A:0	ENSP00000415769	A:0	22/22	0.000149	0.000102	8.64E-05			4.50E-05		0.000787	rs199755994,COSM480470	22/22	common_variant		ENST00000449956	Transcript		A:0.0010	hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	ENSG00000162267	g.chr3:52842629G>A	6168			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=ITIH3_HUMAN&rb=684&re=871&var=V869I	NA	getma.org/?cm=var&var=hg19,3,52842629,G,A&fts=all	V869I	--	--	1																																		ITIH3_uc011bek.1_Missense_Mutation_p.V677I	0,1	1		benign(0.032)	p.V869I	NM_002217	NP_002208	A:0.0041	tolerated(0.57)	0,1	ITIH3_HUMAN	ITIH3	HGNC	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)			22	2641	+			UPI00005CE290	869					SNV	ITIH3,missense_variant,p.Val869Ile,ENST00000449956,NM_002217.3;ITIH3,missense_variant,p.Val677Ile,ENST00000416872,;ITIH4,downstream_gene_variant,,ENST00000266041,NM_002218.4;ITIH4,downstream_gene_variant,,ENST00000346281,NM_001166449.1;ITIH4,downstream_gene_variant,,ENST00000485816,;ITIH4,downstream_gene_variant,,ENST00000406595,;ITIH4,downstream_gene_variant,,ENST00000441637,;ITIH3,non_coding_transcript_exon_variant,,ENST00000493136,;RP5-966M1.6,downstream_gene_variant,,ENST00000468472,;ITIH4,downstream_gene_variant,,ENST00000491663,;ITIH3,downstream_gene_variant,,ENST00000495622,;ITIH3,downstream_gene_variant,,ENST00000475931,;ITIH4,downstream_gene_variant,,ENST00000464000,;	uc003dfv.2	c.2605G>A	2611/3007	2	2			c.2605G>A						3	SNP	c.(2605-2607)GTC>ATC	18	18			ovary(2)|liver(1)	3	Broad	inter-alpha (globulin) inhibitor H3			52842629		0.537	ENSG00000162267	7769	g.chr3:52842629G>A	hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity							57.355931	KEEP	10	14	-1	23	20	10	14	-1	58.547435	23	20	0.35	1	0	0	0	0	1	0	0	0	--	--		0	A			ITIH3_uc011bek.1_Missense_Mutation_p.V677I	65	GBM-06-0743-TP	p.V869I	G	CTGCTGGTTCGTCCACAACAA	NM_002217	NP_002208	52842629	Q06033	ITIH3_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	22	2641	+	A	A			Missense_Mutation	869						
ITIH3	0	broad.mit.edu	GRCh37	3	52828907	52828907	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2615-01	TCGA-32-2615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449956.2:c.88C>T	p.Leu30Phe	p.L30F	ENST00000449956	NM_002217.3	30	Ctt/Ttt	0			1			T	L/F	uc003dfv.2	protein_coding	YES	CCDS46845.1			88/2673									ovary(2)|liver(1)	3	c.(88-90)CTT>TTT			PROSITE_profiles:PS51468,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF24,SMART_domains:SM00609	inter-alpha (globulin) inhibitor H3				ENSP00000415769		22-Jan									COSM3408809,COSM3408808	22-Jan	.		ENST00000449956	Transcript			hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	ENSG00000162267	g.chr3:52828907C>T	6168			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=ITIH3_HUMAN&rb=29&re=158&var=L30F	NA	getma.org/?cm=var&var=hg19,3,52828907,C,T&fts=all	L30F	--	--	1																																		ITIH3_uc011bek.1_Missense_Mutation_p.L30F	1,1	1		benign(0.008)	p.L30F	NM_002217	NP_002208		tolerated(0.41)	1,1	ITIH3_HUMAN	ITIH3	HGNC	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)			1	124	+			UPI00005CE290	30			VIT.		SNV	ITIH3,missense_variant,p.Leu30Phe,ENST00000449956,NM_002217.3;ITIH3,missense_variant,p.Leu30Phe,ENST00000416872,;ITIH1,downstream_gene_variant,,ENST00000273283,NM_002215.3;ITIH1,downstream_gene_variant,,ENST00000542827,;ITIH1,downstream_gene_variant,,ENST00000540715,NM_001166434.2;ITIH1,downstream_gene_variant,,ENST00000537050,NM_001166436.2,NM_001166435.2;ITIH1,downstream_gene_variant,,ENST00000428133,;ITIH1,downstream_gene_variant,,ENST00000405128,;ITIH3,upstream_gene_variant,,ENST00000465243,;ITIH3,upstream_gene_variant,,ENST00000463893,;ITIH3,non_coding_transcript_exon_variant,,ENST00000467268,;ITIH1,downstream_gene_variant,,ENST00000482836,;ITIH1,downstream_gene_variant,,ENST00000494705,;	uc003dfv.2	c.88C>T	94/3007	2	2			c.88C>T						3	SNP	c.(88-90)CTT>TTT	26	26			ovary(2)|liver(1)	3	Broad	inter-alpha (globulin) inhibitor H3			52828907		0.572	ENSG00000162267	7769	g.chr3:52828907C>T	hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity							191.444158	KEEP	46	28	-1	36	36	46	28	-1	191.451615	36	36	0.491525	1	0	0	0	0	1	0	0	0	--	--		0	T			ITIH3_uc011bek.1_Missense_Mutation_p.L30F	239	GBM-32-2615-TP	p.L30F	C	CTTTCGGCTGCTTGGGGTGAG	NM_002217	NP_002208	52828907	Q06033	ITIH3_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	1	124	+	T	T			Missense_Mutation	30			VIT.			
ITIH4	3700	broad.mit.edu	GRCh37	3	52851043	52851043	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266041.4:c.2328G>A	p.Glu776=	p.E776=	ENST00000266041	NM_002218.4	776	gaG/gaA	0			1			T	E	uc003dfz.2	protein_coding	YES	CCDS2865.1			2328/2793									ovary(2)|central_nervous_system(1)	3	c.(2326-2328)GAG>GAA			Pfam_domain:PF06668,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF98	inter-alpha (globulin) inhibitor H4				ENSP00000266041		21/24									COSM2151795	21/24	.		ENST00000266041	Transcript			acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	ENSG00000055955	g.chr3:52851043C>T	6169			LOW								--	--	1																																		ITIH4_uc011bel.1_Silent_p.E490E|ITIH4_uc003dfy.2_Silent_p.E571E|ITIH4_uc011bem.1_Silent_p.E781E|ITIH4_uc011ben.1_Silent_p.E746E	1	1			p.E776E	NM_002218	NP_002209			1	ITIH4_HUMAN	ITIH4	HGNC	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)			21	2364	-			UPI000013D6C3	776					SNV	ITIH4,synonymous_variant,p.=,ENST00000266041,NM_002218.4;ITIH4,synonymous_variant,p.=,ENST00000346281,NM_001166449.1;ITIH4,synonymous_variant,p.=,ENST00000485816,;ITIH4,synonymous_variant,p.=,ENST00000406595,;ITIH4,synonymous_variant,p.=,ENST00000441637,;ITIH4,downstream_gene_variant,,ENST00000434759,;ITIH4,downstream_gene_variant,,ENST00000467462,;ITIH4,downstream_gene_variant,,ENST00000471505,;ITIH4,downstream_gene_variant,,ENST00000484632,;RP5-966M1.6,3_prime_UTR_variant,,ENST00000468472,;ITIH4,non_coding_transcript_exon_variant,,ENST00000491663,;ITIH4,non_coding_transcript_exon_variant,,ENST00000461966,;ITIH4,downstream_gene_variant,,ENST00000537897,;ITIH4,downstream_gene_variant,,ENST00000481977,;ITIH4,upstream_gene_variant,,ENST00000464000,;ITIH4,downstream_gene_variant,,ENST00000485894,;	uc003dfz.2	c.2328G>A	2425/3336	1	1			c.2328G>A						3	SNP	c.(2326-2328)GAG>GAA	16	16			ovary(2)|central_nervous_system(1)	3	Broad	inter-alpha (globulin) inhibitor H4			52851043		0.592	ENSG00000055955	7770	g.chr3:52851043C>T	acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity							225.248308	KEEP	53	33	-1	57	52	53	33	-1	225.876615	57	52	0.434524	1	0	0	0	0	0	0	1	0	--	--		0	T			ITIH4_uc011bel.1_Silent_p.E490E|ITIH4_uc003dfy.2_Silent_p.E571E|ITIH4_uc011bem.1_Silent_p.E781E|ITIH4_uc011ben.1_Silent_p.E746E	68	GBM-06-0747-TP	p.E776E	C	ACCCAGCCTTCTCCCTCTCAT	NM_002218	NP_002209	52851043	Q14624	ITIH4_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	21	2364	-	T	T			Silent	776						
ITIH4	0	broad.mit.edu	GRCh37	3	52857940	52857940	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs141154056	byFrequency	TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266041.4:c.1252G>A	p.Gly418Ser	p.G418S	ENST00000266041	NM_002218.4	418	Ggt/Agt	0	T:0.0007		1			T	G/S	uc003dfz.2	protein_coding	YES	CCDS2865.1			1252/2793									ovary(2)|central_nervous_system(1)	3	c.(1252-1254)GGT>AGT			Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF98,SMART_domains:SM00327,Superfamily_domains:SSF53300	inter-alpha (globulin) inhibitor H4			T:0.0015	ENSP00000266041		24-Oct	0.000708	0.000291	0.000347		0.000605	0.0011		0.000226	rs141154056,COSM3408810	24-Oct	common_variant		ENST00000266041	Transcript			acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	ENSG00000055955	g.chr3:52857940C>T	6169			MODERATE		4.175	high	getma.org/?cm=msa&ty=f&p=ITIH4_HUMAN&rb=274&re=457&var=G418S	getma.org/pdb.php?prot=ITIH4_HUMAN&from=274&to=457&var=G418S	getma.org/?cm=var&var=hg19,3,52857940,C,T&fts=all	G418S	--	--	1																																		ITIH4_uc011bel.1_Missense_Mutation_p.G148S|ITIH4_uc003dfy.2_Missense_Mutation_p.G282S|ITIH4_uc011bem.1_Missense_Mutation_p.G418S|ITIH4_uc011ben.1_Missense_Mutation_p.G418S	0,1	1		probably_damaging(1)	p.G418S	NM_002218	NP_002209		deleterious(0)	0,1	ITIH4_HUMAN	ITIH4	HGNC	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)			10	1288	-			UPI000013D6C3	418			VWFA.		SNV	ITIH4,missense_variant,p.Gly418Ser,ENST00000266041,NM_002218.4;ITIH4,missense_variant,p.Gly418Ser,ENST00000346281,NM_001166449.1;ITIH4,missense_variant,p.Gly418Ser,ENST00000485816,;ITIH4,missense_variant,p.Gly418Ser,ENST00000406595,;ITIH4,missense_variant,p.Gly276Ser,ENST00000441637,;ITIH4,missense_variant,p.Gly330Ser,ENST00000434759,;ITIH4-AS1,upstream_gene_variant,,ENST00000478366,;ITIH4,upstream_gene_variant,,ENST00000467462,;ITIH4,upstream_gene_variant,,ENST00000471505,;ITIH4,upstream_gene_variant,,ENST00000484632,;RP5-966M1.6,3_prime_UTR_variant,,ENST00000468472,;ITIH4,non_coding_transcript_exon_variant,,ENST00000491663,;ITIH4,non_coding_transcript_exon_variant,,ENST00000537897,;ITIH4,upstream_gene_variant,,ENST00000461966,;ITIH4,upstream_gene_variant,,ENST00000481977,;ITIH4,downstream_gene_variant,,ENST00000483372,;ITIH4,upstream_gene_variant,,ENST00000485894,;	uc003dfz.2	c.1252G>A	1349/3336	1	1			c.1252G>A						3	SNP	c.(1252-1254)GGT>AGT	1	1			ovary(2)|central_nervous_system(1)	3	Broad	inter-alpha (globulin) inhibitor H4			52857940		0.612	ENSG00000055955	7770	g.chr3:52857940C>T	acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity							21.539491	KEEP	9	7	-1	27	47	9	7	-1	28.93362	27	47	0.169014	1	0	0	0	0	1	0	0	0	--	--		0	T			ITIH4_uc011bel.1_Missense_Mutation_p.G148S|ITIH4_uc003dfy.2_Missense_Mutation_p.G282S|ITIH4_uc011bem.1_Missense_Mutation_p.G418S|ITIH4_uc011ben.1_Missense_Mutation_p.G418S	229	GBM-32-1977-TP	p.G418S	C	ACGTCGAAACCGAAGCCCAGG	NM_002218	NP_002209	52857940	Q14624	ITIH4_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	10	1288	-	T	T			Missense_Mutation	418			VWFA.			
ITIH4	3700		GRCh37	3	52853785	52853785	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000266041.4:c.1936G>A	p.Gly646Arg	p.G646R	ENST00000266041	NM_002218.4	646	Gga/Aga	0																																																																																																																																																																																																																																												
ITIH5	0	broad.mit.edu	GRCh37	10	7679260	7679260	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0786-01	TCGA-14-0786-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256861.6:c.583G>A	p.Ala195Thr	p.A195T	ENST00000256861	NM_030569.6	195	Gcg/Acg	0			1			T	A/T	uc001ijq.2	protein_coding	YES				583/2871									ovary(2)|central_nervous_system(2)	4	c.(583-585)GCG>ACG			hmmpanther:PTHR10338:SF62,hmmpanther:PTHR10338	inter-alpha trypsin inhibitor heavy chain				ENSP00000256861		14-May	2.47E-05		8.66E-05			3.02E-05			rs747244720,COSM1211076,COSM1211077,COSM3397254	14-May	.		ENST00000256861	Transcript			hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	ENSG00000123243	g.chr10:7679260C>T	21449			MODERATE								--	--	1																																		ITIH5_uc001ijr.1_Missense_Mutation_p.A195T	0,1,1,1	1		benign(0.22)	p.A195T	NM_030569	NP_085046		tolerated(0.62)	0,1,1,1	ITIH5_HUMAN	ITIH5	HGNC	Q86UX2	ITIH5_HUMAN					5	662	-			UPI00001F8AF3	195					SNV	ITIH5,missense_variant,p.Ala195Thr,ENST00000256861,NM_030569.6;ITIH5,missense_variant,p.Ala195Thr,ENST00000397145,NM_001001851.2;ITIH5,missense_variant,p.Ala195Thr,ENST00000397146,;ITIH5,5_prime_UTR_variant,,ENST00000446830,;ITIH5,non_coding_transcript_exon_variant,,ENST00000434980,;	uc001ijq.2	c.583G>A	662/6722	2	2			c.583G>A						10	SNP	c.(583-585)GCG>ACG	30	30			ovary(2)|central_nervous_system(2)	4	Broad	inter-alpha trypsin inhibitor heavy chain			7679260		0.662	ENSG00000123243	7771	g.chr10:7679260C>T	hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity							235.873839	KEEP	30	42	-1	2	11	30	42	-1	245.44273	2	11	0.845238	1	0	0	0	0	1	0	0	0	--	--		0	T			ITIH5_uc001ijr.1_Missense_Mutation_p.A195T	134	GBM-14-0786-TP	p.A195T	C	GCGATGCCCGCGCTCTCCAGG	NM_030569	NP_085046	7679260	Q86UX2	ITIH5_HUMAN	0			5	662	-	T	T			Missense_Mutation	195						
ITIH5	0	broad.mit.edu	GRCh37	10	7605143	7605143	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01	TCGA-32-1970-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256861.6:c.2732C>T	p.Ala911Val	p.A911V	ENST00000256861	NM_030569.6	911	gCc/gTc	0			1			A	A/V	uc001ijq.2	protein_coding	YES				2732/2871									ovary(2)|central_nervous_system(2)	4	c.(2731-2733)GCC>GTC			hmmpanther:PTHR10338:SF62,hmmpanther:PTHR10338	inter-alpha trypsin inhibitor heavy chain				ENSP00000256861		14/14									COSM3397250	14/14	.		ENST00000256861	Transcript			hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	ENSG00000123243	g.chr10:7605143G>A	21449			MODERATE								--	--	1																																		ITIH5_uc001ijp.2_Missense_Mutation_p.A697V	1	1		probably_damaging(0.975)	p.A911V	NM_030569	NP_085046		tolerated(0.21)	1	ITIH5_HUMAN	ITIH5	HGNC	Q86UX2	ITIH5_HUMAN					14	2811	-			UPI00001F8AF3	911					SNV	ITIH5,missense_variant,p.Ala911Val,ENST00000256861,NM_030569.6;ITIH5,missense_variant,p.Ala693Val,ENST00000446830,;ITIH5,missense_variant,p.Ala697Val,ENST00000298441,NM_032817.5;ITIH5,intron_variant,,ENST00000397146,;ITIH5,downstream_gene_variant,,ENST00000473591,;	uc001ijq.2	c.2732C>T	2811/6722	1	1			c.2732C>T						10	SNP	c.(2731-2733)GCC>GTC	60	60			ovary(2)|central_nervous_system(2)	4	Broad	inter-alpha trypsin inhibitor heavy chain			7605143		0.522	ENSG00000123243	7771	g.chr10:7605143G>A	hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity							-28.716973	KEEP	2	2	-1	69	85	2	2	-1	6.408244	69	85	0.027972	1	0	0	0	0	1	0	0	0	--	--		0	A			ITIH5_uc001ijp.2_Missense_Mutation_p.A697V	228	GBM-32-1970-TP	p.A911V	G	CAGTTTGGCGGCATTGTTCCT	NM_030569	NP_085046	7605143	Q86UX2	ITIH5_HUMAN	0			14	2811	-	A	A			Missense_Mutation	911						
ITIH5	0	broad.mit.edu	GRCh37	10	7659109	7659109	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-32-1970-01	TCGA-32-1970-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256861.6:c.789C>A	p.Asp263Glu	p.D263E	ENST00000256861	NM_030569.6	263	gaC/gaA	0			1			T	D/E	uc001ijq.2	protein_coding	YES				789/2871									ovary(2)|central_nervous_system(2)	4	c.(787-789)GAC>GAA			hmmpanther:PTHR10338:SF62,hmmpanther:PTHR10338,Superfamily_domains:SSF53300	inter-alpha trypsin inhibitor heavy chain				ENSP00000256861		14-Jun									COSM372598,COSM3397251,COSM3397252	14-Jun	.		ENST00000256861	Transcript			hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	ENSG00000123243	g.chr10:7659109G>T	21449			MODERATE								--	--	1																																		ITIH5_uc001ijp.2_Missense_Mutation_p.D49E|ITIH5_uc001ijr.1_Missense_Mutation_p.D263E	1,1,1	1		probably_damaging(0.995)	p.D263E	NM_030569	NP_085046		deleterious(0)	1,1,1	ITIH5_HUMAN	ITIH5	HGNC	Q86UX2	ITIH5_HUMAN					6	868	-			UPI00001F8AF3	263					SNV	ITIH5,missense_variant,p.Asp263Glu,ENST00000256861,NM_030569.6;ITIH5,missense_variant,p.Asp263Glu,ENST00000397145,NM_001001851.2;ITIH5,missense_variant,p.Asp45Glu,ENST00000446830,;ITIH5,missense_variant,p.Asp49Glu,ENST00000298441,NM_032817.5;ITIH5,missense_variant,p.Asp263Glu,ENST00000397146,;ITIH5,non_coding_transcript_exon_variant,,ENST00000434980,;ITIH5,missense_variant,p.Asp41Glu,ENST00000461751,;ITIH5,non_coding_transcript_exon_variant,,ENST00000476417,;	uc001ijq.2	c.789C>A	868/6722	2	2			c.789C>A						10	SNP	c.(787-789)GAC>GAA	47	47			ovary(2)|central_nervous_system(2)	4	Broad	inter-alpha trypsin inhibitor heavy chain			7659109		0.388	ENSG00000123243	7771	g.chr10:7659109G>T	hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity							408.680885	KEEP	64	66	0.492307692	21	18	64	66	0.492307692	418.557406	21	18	0.772414	1	0	0	0	0	1	0	0	0	--	--		0	T			ITIH5_uc001ijp.2_Missense_Mutation_p.D49E|ITIH5_uc001ijr.1_Missense_Mutation_p.D263E	228	GBM-32-1970-TP	p.D263E	G	CTCTATTGACGTCATATCTAA	NM_030569	NP_085046	7659109	Q86UX2	ITIH5_HUMAN	0			6	868	-	T	T			Missense_Mutation	263						
ITIH6	0	broad.mit.edu	GRCh37	X	54785423	54785423	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01	TCGA-41-5651-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000218436.6:c.1084G>A	p.Val362Ile	p.V362I	ENST00000218436	NM_198510.2	362	Gtc/Atc	0			1			T	V/I	uc004dtj.2	protein_coding	YES	CCDS14361.1			1084/3942									lung(2)|skin(2)|ovary(1)|breast(1)	6	c.(1084-1086)GTC>ATC			Gene3D:3.40.50.410,Pfam_domain:PF13768,PROSITE_profiles:PS50234,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF10,Low_complexity_(Seg):seg,SMART_domains:SM00327,Superfamily_domains:SSF53300	inter-alpha (globulin) inhibitor H5-like				ENSP00000218436		13-Aug									COSM3406493	13-Aug	.		ENST00000218436	Transcript			hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	ENSG00000102313	g.chrX:54785423C>T	28907			MODERATE		-2.2	neutral	getma.org/?cm=msa&ty=f&p=ITIH6_HUMAN&rb=283&re=469&var=V362I	NA	getma.org/?cm=var&var=hg19,X,54785423,C,T&fts=all	V362I	--	--	1																																			1	1		benign(0)	p.V362I	NM_198510	NP_940912		tolerated(1)	1	ITIH6_HUMAN	ITIH6	HGNC	Q6UXX5	ITH5L_HUMAN					8	1114	-			UPI00000540C8	362			VWFA.		SNV	ITIH6,missense_variant,p.Val362Ile,ENST00000218436,NM_198510.2;	uc004dtj.2	c.1084G>A	1114/4968	2	2			c.1084G>A						23	SNP	c.(1084-1086)GTC>ATC	35	35			lung(2)|skin(2)|ovary(1)|breast(1)	6	Broad	inter-alpha (globulin) inhibitor H5-like			54785423		0.547	ENSG00000102313	7772	g.chrX:54785423C>T	hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			249			249	11.597496	KEEP	2	2	-1	2	5	2	2	-1	11.777251	2	5	0.363636	1	0	0	0	0	1	0	0	0	--	--		0	T				258	GBM-41-5651-TP	p.V362I	C	GCTGAGTTGACGTCTGTCCCT	NM_198510	NP_940912	54785423	Q6UXX5	ITH5L_HUMAN	0			8	1114	-	T	T			Missense_Mutation	362			VWFA.			
ITIH6	0	broad.mit.edu	GRCh37	X	54783873	54783873	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-87-5896-01	TCGA-87-5896-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000218436.6:c.2634C>A	p.Asn878Lys	p.N878K	ENST00000218436	NM_198510.2	878	aaC/aaA	0			1			T	N/K	uc004dtj.2	protein_coding	YES	CCDS14361.1			2634/3942									lung(2)|skin(2)|ovary(1)|breast(1)	6	c.(2632-2634)AAC>AAA			hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF10	inter-alpha (globulin) inhibitor H5-like				ENSP00000218436		13-Aug									COSM3406492	13-Aug	.		ENST00000218436	Transcript			hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	ENSG00000102313	g.chrX:54783873G>T	28907			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=ITIH6_HUMAN&rb=801&re=1000&var=N878K	NA	getma.org/?cm=var&var=hg19,X,54783873,G,T&fts=all	N878K	--	--	1																																			1	1		benign(0)	p.N878K	NM_198510	NP_940912		tolerated(0.95)	1	ITIH6_HUMAN	ITIH6	HGNC	Q6UXX5	ITH5L_HUMAN					8	2664	-			UPI00000540C8	878			Pro-rich.		SNV	ITIH6,missense_variant,p.Asn878Lys,ENST00000218436,NM_198510.2;	uc004dtj.2	c.2634C>A	2664/4968	1	1			c.2634C>A						23	SNP	c.(2632-2634)AAC>AAA	1	1			lung(2)|skin(2)|ovary(1)|breast(1)	6	Broad	inter-alpha (globulin) inhibitor H5-like			54783873		0.483	ENSG00000102313	7772	g.chrX:54783873G>T	hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			249			249	73.85987	KEEP	14	13	0.518518519	19	21	14	13	0.518518519	74.160353	19	21	0.423729	1	0	0	0	0	1	0	0	0	--	--		0	T				291	GBM-87-5896-TP	p.N878K	G	GCATATGGGGGTTTGGGGTCT	NM_198510	NP_940912	54783873	Q6UXX5	ITH5L_HUMAN	0			8	2664	-	T	T			Missense_Mutation	878			Pro-rich.			
ITIH6	347365		GRCh37	X	54777784	54777784	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000218436.6:c.3382G>A	p.Ala1128Thr	p.A1128T	ENST00000218436	NM_198510.2	1128	Gca/Aca	0																																																																																																																																																																																																																																												
ITIH6	347365		GRCh37	X	54784130	54784130	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000218436.6:c.2377C>T	p.Gln793Ter	p.Q793*	ENST00000218436	NM_198510.2	793	Caa/Taa	0																																																																																																																																																																																																																																												
ITLN2	0	broad.mit.edu	GRCh37	1	160920979	160920979	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01	TCGA-76-6193-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368029.3:c.295G>A	p.Glu99Lys	p.E99K	ENST00000368029	NM_080878.2	99	Gag/Aag	0			1			T	E/K	uc001fxd.2	protein_coding	YES	CCDS1212.1			295/978									ovary(1)	1	c.(295-297)GAG>AAG			Gene3D:3.90.215.10,PROSITE_profiles:PS51406,hmmpanther:PTHR16146,hmmpanther:PTHR16146:SF21,Superfamily_domains:SSF56496	intelectin 2 precursor				ENSP00000357008		8-Apr	6.59E-05	9.61E-05		0.000116		3.01E-05		0.000246	rs770677250,COSM3399908	8-Apr	.		ENST00000368029	Transcript			signal transduction	extracellular region	receptor binding|sugar binding	ENSG00000158764	g.chr1:160920979C>T	20599			MODERATE		2.85	medium	getma.org/?cm=msa&ty=f&p=ITLN2_HUMAN&rb=49&re=141&var=E99K	NA	getma.org/?cm=var&var=hg19,1,160920979,C,T&fts=all	E99K	--	--	1																																		ITLN2_uc009wts.2_Missense_Mutation_p.E98K|ITLN2_uc010pju.1_Missense_Mutation_p.E16K	0,1	1		probably_damaging(1)	p.E99K	NM_080878	NP_543154		deleterious(0)	0,1	ITLN2_HUMAN	ITLN2	HGNC	Q8WWU7	ITLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)				4	353	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		UPI0000048F3E	99			Fibrinogen C-terminal.		SNV	ITLN2,missense_variant,p.Glu99Lys,ENST00000368029,NM_080878.2;RP11-544M22.1,downstream_gene_variant,,ENST00000356006,;ITLN2,non_coding_transcript_exon_variant,,ENST00000490489,;ITLN2,upstream_gene_variant,,ENST00000494442,;	uc001fxd.2	c.295G>A	353/1151	2	2			c.295G>A						1	SNP	c.(295-297)GAG>AAG	34	34			ovary(1)	1	Broad	intelectin 2 precursor			160920979		0.582	ENSG00000158764	7775	g.chr1:160920979C>T	signal transduction	extracellular region	receptor binding|sugar binding							6.774363	KEEP	2	5	-1	15	32	2	5	-1	14.297787	15	32	0.115385	1	0	0	0	0	1	0	0	0	--	--		0	T			ITLN2_uc009wts.2_Missense_Mutation_p.E98K|ITLN2_uc010pju.1_Missense_Mutation_p.E16K	276	GBM-76-6193-TP	p.E99K	C	ATGTCATTCTCGTGCACGCTG	NM_080878	NP_543154	160920979	Q8WWU7	ITLN2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.00275)		4	353	-	T	T	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		Missense_Mutation	99			Fibrinogen C-terminal.			
ITM2C	81618	broad.mit.edu	GRCh37	2	231740464	231740464	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01	TCGA-06-1804-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326427.6:c.391G>A	p.Val131Met	p.V131M	ENST00000326427	NM_030926.4	131	Gtg/Atg	0			1			A	V/M	uc002vqz.2	protein_coding	YES	CCDS2479.1			391/804										0	c.(391-393)GTG>ATG			hmmpanther:PTHR10962:SF5,hmmpanther:PTHR10962	integral membrane protein 2C isoform 1				ENSP00000322730		6-Mar	8.24E-06			0.000116					rs753559957,COSM2152515	6-Mar	.		ENST00000326427	Transcript			negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding	ENSG00000135916	g.chr2:231740464G>A	6175			MODERATE		2.305	medium	getma.org/?cm=msa&ty=f&p=ITM2C_HUMAN&rb=1&re=135&var=V131M	NA	getma.org/?cm=var&var=hg19,2,231740464,G,A&fts=all	V131M	--	--	1																																		ITM2C_uc002vra.2_Missense_Mutation_p.V84M|ITM2C_uc002vrb.2_Missense_Mutation_p.V131M|ITM2C_uc002vrc.2_Missense_Mutation_p.V20M|ITM2C_uc002vrd.2_Missense_Mutation_p.V20M	0,1	1		probably_damaging(0.941)	p.V131M	NM_030926	NP_112188		deleterious(0)	0,1	ITM2C_HUMAN	ITM2C	HGNC	Q9NQX7	ITM2C_HUMAN		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	F5H4I5_HUMAN,E7EUS6_HUMAN,C9JG41_HUMAN,B8ZZM6_HUMAN		3	511	+		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)	UPI0000001BF2	131					SNV	ITM2C,missense_variant,p.Val131Met,ENST00000326427,NM_030926.4,NM_001287241.1;ITM2C,missense_variant,p.Val84Met,ENST00000335005,NM_001012514.1;ITM2C,missense_variant,p.Val131Met,ENST00000326407,NM_001012516.1;ITM2C,missense_variant,p.Val69Met,ENST00000409704,;ITM2C,missense_variant,p.Val131Met,ENST00000457215,;ITM2C,missense_variant,p.Val69Met,ENST00000543957,;ITM2C,missense_variant,p.Val69Met,ENST00000541852,;ITM2C,missense_variant,p.Val69Met,ENST00000418408,;ITM2C,non_coding_transcript_exon_variant,,ENST00000492029,;	uc002vqz.2	c.391G>A	517/2078	1	1			c.391G>A						2	SNP	c.(391-393)GTG>ATG	52	52				0	Broad	integral membrane protein 2C isoform 1			231740464		0.617	ENSG00000135916	7778	g.chr2:231740464G>A	negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding							254.442588	KEEP	45	54	-1	82	73	45	54	-1	256.612495	82	73	0.394619	1	0	0	0	0	1	0	0	0	--	--		0	A			ITM2C_uc002vra.2_Missense_Mutation_p.V84M|ITM2C_uc002vrb.2_Missense_Mutation_p.V131M|ITM2C_uc002vrc.2_Missense_Mutation_p.V20M|ITM2C_uc002vrd.2_Missense_Mutation_p.V20M	79	GBM-06-1804-TP	p.V131M	G	GCGCATCAACGTGCCTGTGCC	NM_030926	NP_112188	231740464	Q9NQX7	ITM2C_HUMAN	0		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	3	511	+	A	A		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)	Missense_Mutation	131						
ITPKC	0	broad.mit.edu	GRCh37	19	41245286	41245286	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-41-4097-01	TCGA-41-4097-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263370.2:c.1873G>C	p.Val625Leu	p.V625L	ENST00000263370	NM_025194.2	625	Gtg/Ctg	0			1			C	V/L	uc002oot.2	protein_coding	YES	CCDS12563.1			1873/2052										0	c.(1873-1875)GTG>CTG			Pfam_domain:PF03770,hmmpanther:PTHR12400,hmmpanther:PTHR12400:SF26,Superfamily_domains:SSF56104	inositol 1,4,5-trisphosphate 3-kinase C				ENSP00000263370		7-Jul									COSM3404250	7-Jul	.		ENST00000263370	Transcript	1			cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	ENSG00000086544	g.chr19:41245286G>C	14897			MODERATE		2.39	medium	getma.org/?cm=msa&ty=f&p=IP3KC_HUMAN&rb=467&re=678&var=V625L	getma.org/pdb.php?prot=IP3KC_HUMAN&from=467&to=678&var=V625L	getma.org/?cm=var&var=hg19,19,41245286,G,C&fts=all	V625L	--	--	1																																			1	1		possibly_damaging(0.541)	p.V625L	NM_025194	NP_079470		deleterious(0.02)	1	IP3KC_HUMAN	ITPKC	HGNC	Q96DU7	IP3KC_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)				7	1906	+			UPI000006E1AC	625					SNV	ITPKC,missense_variant,p.Val625Leu,ENST00000263370,NM_025194.2;C19orf54,downstream_gene_variant,,ENST00000378313,NM_198476.3;C19orf54,downstream_gene_variant,,ENST00000470681,;C19orf54,downstream_gene_variant,,ENST00000598729,;C19orf54,downstream_gene_variant,,ENST00000339153,;C19orf54,downstream_gene_variant,,ENST00000598485,;C19orf54,downstream_gene_variant,,ENST00000598352,;C19orf54,downstream_gene_variant,,ENST00000596940,;C19orf54,downstream_gene_variant,,ENST00000594163,;ITPKC,3_prime_UTR_variant,,ENST00000597003,;C19orf54,downstream_gene_variant,,ENST00000469741,;C19orf54,downstream_gene_variant,,ENST00000596809,;C19orf54,downstream_gene_variant,,ENST00000597507,;	uc002oot.2	c.1873G>C	1906/3385	4	4			c.1873G>C						19	SNP	c.(1873-1875)GTG>CTG	43	43				0	Broad	inositol 1,4,5-trisphosphate 3-kinase C			41245286		0.617	ENSG00000086544	7783	g.chr19:41245286G>C		cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity							-1.179152	KEEP	0	3	-1	14	26	0	3	-1	6.300158	14	26	0.055556	1	0	0	0	0	1	0	0	0	--	--		0	C				257	GBM-41-4097-TP	p.V625L	G	CCTCCTCTTCGTGCACGACCA	NM_025194	NP_079470	41245286	Q96DU7	IP3KC_HUMAN	0	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		7	1906	+	C	C			Missense_Mutation	625						
ITPR1	3708	broad.mit.edu	GRCh37	3	4816936	4816936	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01	TCGA-02-0055-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302640.8:c.5945G>A	p.Arg1982His	p.R1982H	ENST00000302640	NM_001168272.1	1982	cGt/cAt	0			1			A	R/H	uc003bqa.2	protein_coding					5945/8232									lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21	c.(5845-5847)CGT>CAT			Superfamily_domains:SSF48371,Pfam_domain:PF08454,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF52	inositol 1,4,5-triphosphate receptor, type 1				ENSP00000346595		46/61									COSM2149055,COSM2149053,COSM2149054	46/61	.		ENST00000354582	Transcript	1		activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	ENSG00000150995	g.chr3:4816936G>A	6180			MODERATE		2.965	medium	getma.org/?cm=msa&ty=f&p=ITPR1_HUMAN&rb=1964&re=2083&var=R1997H	NA	getma.org/?cm=var&var=hg19,3,4816936,G,A&fts=all	R1997H	--	--	1																																		ITPR1_uc010hca.1_Missense_Mutation_p.R1934H|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Missense_Mutation_p.R919H	1,1,1			probably_damaging(1)	p.R1949H	NM_001099952	NP_001093422		deleterious(0)	1,1,1		ITPR1	HGNC	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	E7EVP7_HUMAN		44	6194	+			UPI00015E0852	1997			Cytoplasmic (Potential).		SNV	ITPR1,missense_variant,p.Arg1982His,ENST00000302640,NM_001168272.1;ITPR1,missense_variant,p.Arg1982His,ENST00000354582,;ITPR1,missense_variant,p.Arg1949His,ENST00000423119,NM_001099952.2;ITPR1,missense_variant,p.Arg1949His,ENST00000357086,;ITPR1,missense_variant,p.Arg1934His,ENST00000456211,NM_002222.5;ITPR1,missense_variant,p.Arg1982His,ENST00000443694,;ITPR1,intron_variant,,ENST00000544951,;ITPR1,non_coding_transcript_exon_variant,,ENST00000479831,;	uc003bqa.2	c.5846G>A	6295/10197	1	1			c.5846G>A						3	SNP	c.(5845-5847)CGT>CAT	58	58			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21	Broad	inositol 1,4,5-triphosphate receptor, type 1			4816936		0.483	ENSG00000150995	7784	g.chr3:4816936G>A	activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			2114			2114	238.784747	KEEP	43	59	-1	100	146	43	59	-1	251.623323	100	146	0.28479	1	0	0	0	0	1	0	0	0	--	--		0	A			ITPR1_uc010hca.1_Missense_Mutation_p.R1934H|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Missense_Mutation_p.R919H	4	GBM-02-0055-TP	p.R1949H	G	AACTTCCTCCGTTGCCAAAAT	NM_001099952	NP_001093422	4816936	Q14643	ITPR1_HUMAN	0		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	44	6194	+	A	A			Missense_Mutation	1997			Cytoplasmic (Potential).			
ITPR1	3708	broad.mit.edu	GRCh37	3	4716846	4716846	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0879-01	TCGA-06-0879-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302640.8:c.2648G>A	p.Cys883Tyr	p.C883Y	ENST00000302640	NM_001168272.1	883	tGt/tAt	0			1			A	C/Y	uc003bqa.2	protein_coding					2693/8232									lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21	c.(2692-2694)TGT>TAT			hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF52	inositol 1,4,5-triphosphate receptor, type 1				ENSP00000346595		23/61									COSM2152275,COSM2152273,COSM2152274	23/61	.		ENST00000354582	Transcript	1		activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	ENSG00000150995	g.chr3:4716846G>A	6180			MODERATE		2.305	medium	getma.org/?cm=msa&ty=f&p=ITPR1_HUMAN&rb=878&re=1077&var=C898Y	NA	getma.org/?cm=var&var=hg19,3,4716846,G,A&fts=all	C898Y	--	--	1																																		ITPR1_uc010hca.1_Missense_Mutation_p.C883Y|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.C883Y	1,1,1			benign(0.275)	p.C898Y	NM_001099952	NP_001093422		tolerated(0.07)	1,1,1		ITPR1	HGNC	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	E7EVP7_HUMAN		23	3041	+			UPI00015E0852	898			Cytoplasmic (Potential).		SNV	ITPR1,missense_variant,p.Cys898Tyr,ENST00000354582,;ITPR1,missense_variant,p.Cys883Tyr,ENST00000302640,NM_001168272.1;ITPR1,missense_variant,p.Cys898Tyr,ENST00000423119,NM_001099952.2;ITPR1,missense_variant,p.Cys898Tyr,ENST00000357086,;ITPR1,missense_variant,p.Cys883Tyr,ENST00000456211,NM_002222.5;ITPR1,missense_variant,p.Cys883Tyr,ENST00000443694,;ITPR1,intron_variant,,ENST00000544951,;ITPR1,downstream_gene_variant,,ENST00000477577,;	uc003bqa.2	c.2693G>A	3043/10197	2	2			c.2693G>A						3	SNP	c.(2692-2694)TGT>TAT	32	32			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21	Broad	inositol 1,4,5-triphosphate receptor, type 1			4716846		0.393	ENSG00000150995	7784	g.chr3:4716846G>A	activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			2114			2114	93.747404	KEEP	17	22	-1	34	31	17	22	-1	95.054828	34	31	0.370787	1	0	0	0	0	1	0	0	0	--	--		0	A			ITPR1_uc010hca.1_Missense_Mutation_p.C883Y|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.C883Y	75	GBM-06-0879-TP	p.C898Y	G	ATATTGGACTGTGTACATGTG	NM_001099952	NP_001093422	4716846	Q14643	ITPR1_HUMAN	0		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	23	3041	+	A	A			Missense_Mutation	898			Cytoplasmic (Potential).			
ITPR1	0	broad.mit.edu	GRCh37	3	4699832	4699832	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-14-3476-01	TCGA-14-3476-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354582.6:c.1021C>T	p.Arg341Ter	p.R341*	ENST00000354582		341	Cga/Tga	0			1			T	R/*	uc003bqa.2	protein_coding					1021/8232									lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21	c.(1021-1023)CGA>TGA			Superfamily_domains:SSF82109,SMART_domains:SM00472,Pfam_domain:PF02815,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF52,PROSITE_profiles:PS50919	inositol 1,4,5-triphosphate receptor, type 1				ENSP00000346595		13/61									COSM1045362,COSM1593824,COSM1593825	13/61	.		ENST00000354582	Transcript	1		activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	ENSG00000150995	g.chr3:4699832C>T	6180			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,3,4699832,C,T&fts=all	R341*	--	--	1																																		ITPR1_uc010hca.1_Nonsense_Mutation_p.R326*|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Nonsense_Mutation_p.R326*	1,1,1				p.R341*	NM_001099952	NP_001093422			1,1,1		ITPR1	HGNC	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	E7EVP7_HUMAN		13	1369	+			UPI00015E0852	341			Cytoplasmic (Potential).|MIR 4.		SNV	ITPR1,stop_gained,p.Arg341Ter,ENST00000354582,;ITPR1,stop_gained,p.Arg326Ter,ENST00000302640,NM_001168272.1;ITPR1,stop_gained,p.Arg341Ter,ENST00000423119,NM_001099952.2;ITPR1,stop_gained,p.Arg341Ter,ENST00000357086,;ITPR1,stop_gained,p.Arg326Ter,ENST00000456211,NM_002222.5;ITPR1,stop_gained,p.Arg326Ter,ENST00000443694,;ITPR1,intron_variant,,ENST00000544951,;ITPR1,non_coding_transcript_exon_variant,,ENST00000477577,;	uc003bqa.2	c.1021C>T	1371/10197	5	1			c.1021C>T						3	SNP	c.(1021-1023)CGA>TGA	6	6			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21	Broad	inositol 1,4,5-triphosphate receptor, type 1			4699832		0.488	ENSG00000150995	7784	g.chr3:4699832C>T	activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			2114			2114	-35.219317	KEEP	4	3	-1	109	111	4	3	-1	10.69906	109	111	0.031414	1	0	0	0	0	0	1	0	0	--	--		0	T			ITPR1_uc010hca.1_Nonsense_Mutation_p.R326*|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Nonsense_Mutation_p.R326*	151	GBM-14-3476-TP	p.R341*	C	GGACGCCTCTCGAAGTAGGTT	NM_001099952	NP_001093422	4699832	Q14643	ITPR1_HUMAN	0		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	13	1369	+	T	T			Nonsense_Mutation	341			Cytoplasmic (Potential).|MIR 4.			
ITPR1	0	broad.mit.edu	GRCh37	3	4856788	4856788	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01	TCGA-32-2494-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354582.6:c.7708G>A	p.Val2570Ile	p.V2570I	ENST00000354582		2570	Gtc/Atc	0			1			A	V/I	uc003bqa.2	protein_coding					7708/8232									lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21	c.(7609-7611)GTC>ATC			Transmembrane_helices:TMhelix,Pfam_domain:PF00520,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF52	inositol 1,4,5-triphosphate receptor, type 1				ENSP00000346595		58/61									COSM3408722,COSM3408720,COSM3408721	58/61	.		ENST00000354582	Transcript	1		activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	ENSG00000150995	g.chr3:4856788G>A	6180			MODERATE		1.77	low	getma.org/?cm=msa&ty=f&p=ITPR1_HUMAN&rb=2341&re=2597&var=V2585I	NA	getma.org/?cm=var&var=hg19,3,4856788,G,A&fts=all	V2585I	--	--	1																																		ITPR1_uc010hca.1_Missense_Mutation_p.V2522I|ITPR1_uc011asu.1_Missense_Mutation_p.V548I|ITPR1_uc003bqc.2_Missense_Mutation_p.V1507I|ITPR1_uc010hcc.1_Missense_Mutation_p.V305I|ITPR1_uc011asv.1_Missense_Mutation_p.V261I	1,1,1			probably_damaging(0.986)	p.V2537I	NM_001099952	NP_001093422		tolerated(0.11)	1,1,1		ITPR1	HGNC	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	E7EVP7_HUMAN		56	7957	+			UPI00015E0852	2585			Helical; (Potential).		SNV	ITPR1,missense_variant,p.Val2570Ile,ENST00000354582,;ITPR1,missense_variant,p.Val2570Ile,ENST00000302640,NM_001168272.1;ITPR1,missense_variant,p.Val2537Ile,ENST00000423119,NM_001099952.2;ITPR1,missense_variant,p.Val2537Ile,ENST00000357086,;ITPR1,missense_variant,p.Val2522Ile,ENST00000456211,NM_002222.5;ITPR1,missense_variant,p.Val2570Ile,ENST00000443694,;ITPR1,missense_variant,p.Val548Ile,ENST00000544951,;AC018816.3,intron_variant,,ENST00000449914,;AC018816.3,intron_variant,,ENST00000441894,;ITPR1,non_coding_transcript_exon_variant,,ENST00000463980,;ITPR1,non_coding_transcript_exon_variant,,ENST00000493491,;AC018816.3,non_coding_transcript_exon_variant,,ENST00000474544,;AC018816.3,intron_variant,,ENST00000489771,;AC018816.3,intron_variant,,ENST00000496600,;AC018816.3,intron_variant,,ENST00000465436,;AC018816.3,intron_variant,,ENST00000478724,;ITPR1,downstream_gene_variant,,ENST00000490572,;ITPR1,non_coding_transcript_exon_variant,,ENST00000478515,;ITPR1,non_coding_transcript_exon_variant,,ENST00000472205,;ITPR1,downstream_gene_variant,,ENST00000467545,;	uc003bqa.2	c.7609G>A	8058/10197	1	1			c.7609G>A						3	SNP	c.(7609-7611)GTC>ATC	60	60			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21	Broad	inositol 1,4,5-triphosphate receptor, type 1			4856788		0.448	ENSG00000150995	7784	g.chr3:4856788G>A	activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			2114			2114	-52.015744	KEEP	0	6	-1	104	151	0	6	-1	7.872565	104	151	0.017544	1	0	0	0	0	1	0	0	0	--	--		0	A			ITPR1_uc010hca.1_Missense_Mutation_p.V2522I|ITPR1_uc011asu.1_Missense_Mutation_p.V548I|ITPR1_uc003bqc.2_Missense_Mutation_p.V1507I|ITPR1_uc010hcc.1_Missense_Mutation_p.V305I|ITPR1_uc011asv.1_Missense_Mutation_p.V261I	236	GBM-32-2494-TP	p.V2537I	G	CTTCTTCATGGTCATCATCAT	NM_001099952	NP_001093422	4856788	Q14643	ITPR1_HUMAN	0		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	56	7957	+	A	A			Missense_Mutation	2585			Helical; (Potential).			
ITPR2	3709	broad.mit.edu	GRCh37	12	26864181	26864181	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5415-01	TCGA-06-5415-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381340.3:c.876C>T	p.Cys292=	p.C292=	ENST00000381340	NM_002223.2	292	tgC/tgT	0			1			A	C	uc001rhg.2	protein_coding	YES	CCDS41764.1			876/8106									kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	c.(874-876)TGC>TGT			Gene3D:2.80.10.50,Pfam_domain:PF02815,Prints_domain:PR00779,hmmpanther:PTHR13715,Superfamily_domains:SSF82109	inositol 1,4,5-triphosphate receptor, type 2				ENSP00000370744		Sep-57									COSM3398637	Sep-57	.		ENST00000381340	Transcript			activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	ENSG00000123104	g.chr12:26864181G>A	6181			LOW								--	--	1																																			1	1			p.C292C	NM_002223	NP_002214			1	ITPR2_HUMAN	ITPR2	HGNC	Q14571	ITPR2_HUMAN			I1VE21_HUMAN		9	1293	-	Colorectal(261;0.0847)		UPI00001FB7D2	292			Cytoplasmic (Potential).		SNV	ITPR2,synonymous_variant,p.=,ENST00000381340,NM_002223.2;ITPR2,non_coding_transcript_exon_variant,,ENST00000540791,;ITPR2,downstream_gene_variant,,ENST00000545235,;	uc001rhg.2	c.876C>T	1293/10511	2	2			c.876C>T						12	SNP	c.(874-876)TGC>TGT	33	33			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Broad	inositol 1,4,5-triphosphate receptor, type 2			26864181		0.433	ENSG00000123104	7785	g.chr12:26864181G>A	activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			1600			1600	-14.891952	KEEP	0	5	-1	47	68	0	5	-1	7.639787	47	68	0.040404	1	0	0	0	0	0	0	1	0	--	--		0	A				98	GBM-06-5415-TP	p.C292C	G	CACCCCCACGGCATGGGTCAT	NM_002223	NP_002214	26864181	Q14571	ITPR2_HUMAN	0			9	1293	-	A	A	Colorectal(261;0.0847)		Silent	292			Cytoplasmic (Potential).			
ITPR2	0	broad.mit.edu	GRCh37	12	26835518	26835518	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381340.3:c.1237G>A	p.Val413Ile	p.V413I	ENST00000381340	NM_002223.2	413	Gtt/Att	0			1			T	V/I	uc001rhg.2	protein_coding	YES	CCDS41764.1			1237/8106									kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	c.(1237-1239)GTT>ATT			Gene3D:2.80.10.50,Pfam_domain:PF02815,PROSITE_profiles:PS50919,hmmpanther:PTHR13715,Superfamily_domains:SSF82109	inositol 1,4,5-triphosphate receptor, type 2				ENSP00000370744		Dec-57									COSM3398636	Dec-57	.		ENST00000381340	Transcript			activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	ENSG00000123104	g.chr12:26835518C>T	6181			MODERATE		0.31	neutral	getma.org/?cm=msa&ty=f&p=ITPR2_HUMAN&rb=232&re=432&var=V413I	getma.org/pdb.php?prot=ITPR2_HUMAN&from=232&to=432&var=V413I	getma.org/?cm=var&var=hg19,12,26835518,C,T&fts=all	V413I	--	--	1																																			1	1		benign(0.04)	p.V413I	NM_002223	NP_002214		tolerated(0.47)	1	ITPR2_HUMAN	ITPR2	HGNC	Q14571	ITPR2_HUMAN			I1VE21_HUMAN		12	1654	-	Colorectal(261;0.0847)		UPI00001FB7D2	413			Cytoplasmic (Potential).|MIR 5.		SNV	ITPR2,missense_variant,p.Val413Ile,ENST00000381340,NM_002223.2;	uc001rhg.2	c.1237G>A	1654/10511	1	1			c.1237G>A						12	SNP	c.(1237-1239)GTT>ATT	4	4			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Broad	inositol 1,4,5-triphosphate receptor, type 2			26835518		0.388	ENSG00000123104	7785	g.chr12:26835518C>T	activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			1600			1600	78.731413	KEEP	18	20	-1	79	68	18	20	-1	90.787432	79	68	0.216049	1	0	0	0	0	1	0	0	0	--	--		0	T				129	GBM-12-5295-TP	p.V413I	C	TTTAACATAACAGGCCTCTCT	NM_002223	NP_002214	26835518	Q14571	ITPR2_HUMAN	0			12	1654	-	T	T	Colorectal(261;0.0847)		Missense_Mutation	413			Cytoplasmic (Potential).|MIR 5.			
ITPR2	0	broad.mit.edu	GRCh37	12	26628304	26628304	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-19-2623-01	TCGA-19-2623-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381340.3:c.6267T>C	p.His2089=	p.H2089=	ENST00000381340	NM_002223.2	2089	caT/caC	0			1			G	H	uc001rhg.2	protein_coding	YES	CCDS41764.1			6267/8106									kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	c.(6265-6267)CAT>CAC			hmmpanther:PTHR13715,Low_complexity_(Seg):seg	inositol 1,4,5-triphosphate receptor, type 2				ENSP00000370744		45/57									COSM3398634	45/57	.		ENST00000381340	Transcript			activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	ENSG00000123104	g.chr12:26628304A>G	6181			LOW								--	--	1																																		ITPR2_uc009zjg.1_Silent_p.H240H	1	1			p.H2089H	NM_002223	NP_002214			1	ITPR2_HUMAN	ITPR2	HGNC	Q14571	ITPR2_HUMAN			I1VE21_HUMAN		45	6684	-	Colorectal(261;0.0847)		UPI00001FB7D2	2089			Cytoplasmic (Potential).		SNV	ITPR2,synonymous_variant,p.=,ENST00000381340,NM_002223.2;ITPR2,3_prime_UTR_variant,,ENST00000451599,;	uc001rhg.2	c.6267T>C	6684/10511	3	3			c.6267T>C						12	SNP	c.(6265-6267)CAT>CAC	16	16			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Broad	inositol 1,4,5-triphosphate receptor, type 2			26628304		0.368	ENSG00000123104	7785	g.chr12:26628304A>G	activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			1600			1600	-8.734254	KEEP	0	3	-1	30	39	0	3	-1	6.675249	30	39	0.043478	1	0	0	0	0	0	0	1	0	--	--		0	G			ITPR2_uc009zjg.1_Silent_p.H240H	163	GBM-19-2623-TP	p.H2089H	A	CATCATCCCCATGGTCACATT	NM_002223	NP_002214	26628304	Q14571	ITPR2_HUMAN	0			45	6684	-	G	G	Colorectal(261;0.0847)		Silent	2089			Cytoplasmic (Potential).			
ITPR2	0	broad.mit.edu	GRCh37	12	26808744	26808744	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01	TCGA-26-5132-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381340.3:c.2486G>A	p.Arg829Lys	p.R829K	ENST00000381340	NM_002223.2	829	aGg/aAg	0			1			T	R/K	uc001rhg.2	protein_coding	YES	CCDS41764.1			2486/8106									kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	c.(2485-2487)AGG>AAG			hmmpanther:PTHR13715	inositol 1,4,5-triphosphate receptor, type 2				ENSP00000370744		20/57									COSM3398635	20/57	.		ENST00000381340	Transcript			activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	ENSG00000123104	g.chr12:26808744C>T	6181			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=ITPR2_HUMAN&rb=678&re=877&var=R829K	NA	getma.org/?cm=var&var=hg19,12,26808744,C,T&fts=all	R829K	--	--	1																																			1	1		benign(0.001)	p.R829K	NM_002223	NP_002214		tolerated(0.73)	1	ITPR2_HUMAN	ITPR2	HGNC	Q14571	ITPR2_HUMAN			I1VE21_HUMAN		20	2903	-	Colorectal(261;0.0847)		UPI00001FB7D2	829			Cytoplasmic (Potential).		SNV	ITPR2,missense_variant,p.Arg829Lys,ENST00000381340,NM_002223.2;	uc001rhg.2	c.2486G>A	2903/10511	1	1			c.2486G>A						12	SNP	c.(2485-2487)AGG>AAG	1	1			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Broad	inositol 1,4,5-triphosphate receptor, type 2			26808744		0.313	ENSG00000123104	7785	g.chr12:26808744C>T	activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			1600			1600	7.309235	KEEP	6	11	-1	71	88	6	11	-1	34.136167	71	88	0.089172	1	0	0	0	0	1	0	0	0	--	--		0	T				181	GBM-26-5132-TP	p.R829K	C	GGCAAATTTCCTCTTCATATC	NM_002223	NP_002214	26808744	Q14571	ITPR2_HUMAN	0			20	2903	-	T	T	Colorectal(261;0.0847)		Missense_Mutation	829			Cytoplasmic (Potential).			
ITPR3	3710	broad.mit.edu	GRCh37	6	33653482	33653482	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374316.5:c.5545C>T	p.Arg1849Cys	p.R1849C	ENST00000374316		1849	Cgc/Tgc	0	T:0		1			T	R/C	uc011drk.1	protein_coding	YES	CCDS4783.1			5545/8016								p.R1849C(1)	ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19	c.(5545-5547)CGC>TGC			hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF51	inositol 1,4,5-triphosphate receptor, type 3			T:0.0002	ENSP00000363435		42/59	6.59E-05					0.000124			rs201614062,COSM42931,COSM3411016	42/59	.		ENST00000374316	Transcript			activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	ENSG00000096433	g.chr6:33653482C>T	6182			MODERATE		1.865	low	getma.org/?cm=msa&ty=f&p=ITPR3_HUMAN&rb=1746&re=1859&var=R1849C	NA	getma.org/?cm=var&var=hg19,6,33653482,C,T&fts=all	R1849C	--	--	1																																		ITPR3_uc003oey.2_5'Flank	0,1,1	1		benign(0.001)	p.R1849C	NM_002224	NP_002215		deleterious(0.03)	0,1,1	ITPR3_HUMAN	ITPR3	HGNC	Q14573	ITPR3_HUMAN			A6H8K3_HUMAN		41	5764	+			UPI000013CB74	1849			Cytoplasmic (Potential).		SNV	ITPR3,missense_variant,p.Arg1849Cys,ENST00000374316,;ITPR3,missense_variant,p.Arg1849Cys,ENST00000605930,NM_002224.3;	uc011drk.1	c.5545C>T	6605/9870	2	2			c.5545C>T						6	SNP	c.(5545-5547)CGC>TGC	33	33		p.R1849C(1)	ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19	Broad	inositol 1,4,5-triphosphate receptor, type 3			33653482		0.662	ENSG00000096433	7786	g.chr6:33653482C>T	activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding							67.11685	KEEP	19	17	-1	34	45	19	17	-1	70.117726	34	45	0.302326	1	0	0	0	0	1	0	0	0	--	--		0	T			ITPR3_uc003oey.2_5'Flank	46	GBM-06-0209-TP	p.R1849C	C	CCCCAGCCTGCGCCGGGGGCA	NM_002224	NP_002215	33653482	Q14573	ITPR3_HUMAN	0			41	5764	+	T	T			Missense_Mutation	1849			Cytoplasmic (Potential).			
ITPR3	0	broad.mit.edu	GRCh37	6	33633622	33633622	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-14-0789-01	TCGA-14-0789-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374316.5:c.1420C>T	p.Gln474Ter	p.Q474*	ENST00000374316		474	Cag/Tag	0			1			T	Q/*	uc011drk.1	protein_coding	YES	CCDS4783.1			1420/8016									ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19	c.(1420-1422)CAG>TAG			Superfamily_domains:0048280,Gene3D:1n4kA02,Pfam_domain:PF01365,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF51	inositol 1,4,5-triphosphate receptor, type 3				ENSP00000363435		15/59									COSM3411013,COSM3411012	15/59	.		ENST00000374316	Transcript			activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	ENSG00000096433	g.chr6:33633622C>T	6182			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,6,33633622,C,T&fts=all	Q474*	--	--	1																																			1,1	1			p.Q474*	NM_002224	NP_002215			1,1	ITPR3_HUMAN	ITPR3	HGNC	Q14573	ITPR3_HUMAN			A6H8K3_HUMAN		14	1639	+			UPI000013CB74	474			Cytoplasmic (Potential).		SNV	ITPR3,stop_gained,p.Gln474Ter,ENST00000374316,;ITPR3,stop_gained,p.Gln474Ter,ENST00000605930,NM_002224.3;	uc011drk.1	c.1420C>T	2480/9870	5	1			c.1420C>T						6	SNP	c.(1420-1422)CAG>TAG	2	2			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19	Broad	inositol 1,4,5-triphosphate receptor, type 3			33633622		0.572	ENSG00000096433	7786	g.chr6:33633622C>T	activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding							60.644059	KEEP	16	11	-1	44	46	16	11	-1	67.002176	44	46	0.237624	1	0	0	0	0	0	1	0	0	--	--		0	T				136	GBM-14-0789-TP	p.Q474*	C	GTTTGTCATCCAGCTGCTGGA	NM_002224	NP_002215	33633622	Q14573	ITPR3_HUMAN	0			14	1639	+	T	T			Nonsense_Mutation	474			Cytoplasmic (Potential).			
ITPR3	0	broad.mit.edu	GRCh37	6	33644615	33644615	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374316.5:c.3353G>A	p.Arg1118Gln	p.R1118Q	ENST00000374316		1118	cGg/cAg	0			1			A	R/Q	uc011drk.1	protein_coding	YES	CCDS4783.1			3353/8016									ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19	c.(3352-3354)CGG>CAG			hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF51	inositol 1,4,5-triphosphate receptor, type 3				ENSP00000363435		27/59									COSM3411015,COSM3411014	27/59	.		ENST00000374316	Transcript			activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	ENSG00000096433	g.chr6:33644615G>A	6182			MODERATE		2.595	medium	getma.org/?cm=msa&ty=f&p=ITPR3_HUMAN&rb=1078&re=1170&var=R1118Q	NA	getma.org/?cm=var&var=hg19,6,33644615,G,A&fts=all	R1118Q	--	--	1																																			1,1	1		possibly_damaging(0.893)	p.R1118Q	NM_002224	NP_002215		deleterious(0)	1,1	ITPR3_HUMAN	ITPR3	HGNC	Q14573	ITPR3_HUMAN			A6H8K3_HUMAN		26	3572	+			UPI000013CB74	1118			Cytoplasmic (Potential).		SNV	ITPR3,missense_variant,p.Arg1118Gln,ENST00000374316,;ITPR3,missense_variant,p.Arg1118Gln,ENST00000605930,NM_002224.3;	uc011drk.1	c.3353G>A	4413/9870	1	1			c.3353G>A						6	SNP	c.(3352-3354)CGG>CAG	56	56			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19	Broad	inositol 1,4,5-triphosphate receptor, type 3			33644615		0.597	ENSG00000096433	7786	g.chr6:33644615G>A	activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding							4.610028	KEEP	3	4	-1	35	35	3	4	-1	15.218388	35	35	0.09375	1	0	0	0	0	1	0	0	0	--	--		0	A				197	GBM-27-1838-TP	p.R1118Q	G	GACCGGCTGCGGACCATGGTG	NM_002224	NP_002215	33644615	Q14573	ITPR3_HUMAN	0			26	3572	+	A	A			Missense_Mutation	1118			Cytoplasmic (Potential).			
ITPRIPL1	0	broad.mit.edu	GRCh37	2	96992793	96992795	+	inframe_deletion	In_Frame_Del	DEL	GAG	GAG	-			TCGA-28-5219-01	TCGA-28-5219-01	GAG	GAG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000439118.2:c.438_440delGGA	p.Glu147del	p.E147del	ENST00000439118	NM_001008949.2	142	GAG/-	0			1			-	E/-	uc002svx.2	protein_coding		CCDS46360.1			424-426/1668									central_nervous_system(2)|ovary(1)	3	c.(424-426)GAGdel			hmmpanther:PTHR10656,hmmpanther:PTHR10656:SF40,Low_complexity_(Seg):seg	inositol 1,4,5-triphosphate receptor interacting				ENSP00000389308		3-Mar	0.00858	0.00689	0.0114	0.00852	0.00334	0.00825	0.00788	0.00941	rs749880210	3-Mar	common_variant		ENST00000439118	Transcript				integral to membrane		ENSG00000198885	g.chr2:96992793_96992795delGAG	29371	14		MODERATE								--	--	1																																		ITPRIPL1_uc010yuk.1_In_Frame_Del_p.E139del|ITPRIPL1_uc002svy.2_In_Frame_Del_p.E155del|ITPRIPL1_uc010yul.1_In_Frame_Del_p.E139del					p.E147del	NM_001008949	NP_001008949				IPIL1_HUMAN	ITPRIPL1	HGNC	Q6GPH6	IPIL1_HUMAN			F5H1L8_HUMAN,C9JNT4_HUMAN		3	759_761	+			UPI00003B5C6E	147			Cytoplasmic (Potential).		deletion	ITPRIPL1,inframe_deletion,p.Glu155del,ENST00000361124,NM_178495.5;ITPRIPL1,inframe_deletion,p.Glu139del,ENST00000536814,NM_001163523.1;ITPRIPL1,inframe_deletion,p.Glu147del,ENST00000439118,NM_001008949.2;ITPRIPL1,inframe_deletion,p.Glu139del,ENST00000542887,NM_001163524.1;ITPRIPL1,inframe_deletion,p.Glu179del,ENST00000420728,;ITPRIPL1,inframe_deletion,p.Glu139del,ENST00000420176,;	uc002svx.2	c.424_426delGAG	675-677/1946	5	5			c.424_426delGAG						2	DEL	c.(424-426)GAGdel	34	34			central_nervous_system(2)|ovary(1)	3	Broad	inositol 1,4,5-triphosphate receptor interacting			96992795		0.532	ENSG00000198885	7788	g.chr2:96992793_96992795delGAG		integral to membrane																					0.05	1	1	0	1	0	0	0	0	0	--	--		0	-			ITPRIPL1_uc010yuk.1_In_Frame_Del_p.E139del|ITPRIPL1_uc002svy.2_In_Frame_Del_p.E155del|ITPRIPL1_uc010yul.1_In_Frame_Del_p.E139del	225	GBM-28-5219-TP	p.E147del	GAG	TTCCAGCAGTGAGGAGGAGGAGG	NM_001008949	NP_001008949	96992793	Q6GPH6	IPIL1_HUMAN	0			3	759_761	+	-	-			In_Frame_Del	147			Cytoplasmic (Potential).			
ITPRIPL2	162073	broad.mit.edu	GRCh37	16	19126333	19126333	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-5415-01	TCGA-06-5415-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381440.3:c.550C>G	p.Pro184Ala	p.P184A	ENST00000381440	NM_001034841.3	184	Ccg/Gcg	0			1			G	P/A	uc002dfu.3	protein_coding	YES	CCDS32395.1			550/1608									skin(2)	2	c.(550-552)CCG>GCG			Low_complexity_(Seg):seg,hmmpanther:PTHR10656,hmmpanther:PTHR10656:SF9	inositol 1,4,5-triphosphate receptor interacting				ENSP00000370849		1-Jan									COSM3402121	1-Jan	.		ENST00000381440	Transcript				integral to membrane		ENSG00000205730	g.chr16:19126333C>G	27257			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=IPIL2_HUMAN&rb=1&re=200&var=P184A	NA	getma.org/?cm=var&var=hg19,16,19126333,C,G&fts=all	P184A	--	--	1																																OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ITPRIPL2_uc002dft.2_5'UTR	1	1		benign(0.046)	p.P184A	NM_001034841	NP_001030013		deleterious(0.04)	1	IPIL2_HUMAN	ITPRIPL2	HGNC	Q3MIP1	IPIL2_HUMAN					1	1080	+			UPI000023760C	184			Cytoplasmic (Potential).		SNV	ITPRIPL2,missense_variant,p.Pro184Ala,ENST00000381440,NM_001034841.3;ITPRIPL2,3_prime_UTR_variant,,ENST00000566735,;RP11-626G11.3,downstream_gene_variant,,ENST00000567236,;CTD-2349B8.1,intron_variant,,ENST00000564808,;CTD-2349B8.1,intron_variant,,ENST00000568526,;	uc002dfu.3	c.550C>G	1080/7693	4	4			c.550C>G						16	SNP	c.(550-552)CCG>GCG	21	21			skin(2)	2	Broad	inositol 1,4,5-triphosphate receptor interacting			19126333		0.697	ENSG00000205730	7789	g.chr16:19126333C>G		integral to membrane								5.411684	KEEP	3	2	-1	13	12	3	2	-1	7.533191	13	12	0.157895	1	0	0	0	0	1	0	0	0	--	--		0	G	OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ITPRIPL2_uc002dft.2_5'UTR	98	GBM-06-5415-TP	p.P184A	C	GCGCCTCCCGCCGCTTGTGGC	NM_001034841	NP_001030013	19126333	Q3MIP1	IPIL2_HUMAN	0			1	1080	+	G	G			Missense_Mutation	184			Cytoplasmic (Potential).			
ITSN1	6453	broad.mit.edu	GRCh37	21	35230998	35230998	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0188-01	TCGA-06-0188-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381318.3:c.3792A>G	p.Gln1264=	p.Q1264=	ENST00000381318	NM_003024.2	1264	caA/caG	0			1			G	Q	uc002yta.1	protein_coding	YES	CCDS33545.1			3792/5166									ovary(3)|skin(1)	4	c.(3790-3792)CAA>CAG			PROSITE_profiles:PS50010,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065	intersectin 1 isoform ITSN-l				ENSP00000370719		31/40	6.59E-05			0.000347		4.50E-05		0.000122	rs766615959,COSM3405375,COSM3405376	31/40	.		ENST00000381318	Transcript			apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	ENSG00000205726	g.chr21:35230998A>G	6183			LOW								--	--	1																																		DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Silent_p.Q1259Q|ITSN1_uc002ytj.2_Silent_p.Q1259Q|ITSN1_uc010gmm.1_RNA	0,1,1	1			p.Q1264Q	NM_003024	NP_003015			0,1,1	ITSN1_HUMAN	ITSN1	HGNC	Q15811	ITSN1_HUMAN			D6PAW2_HUMAN,C9JXS9_HUMAN,C9J1A4_HUMAN		31	4060	+			UPI00001403C6	1264			DH.		SNV	ITSN1,synonymous_variant,p.=,ENST00000381318,NM_003024.2;ITSN1,synonymous_variant,p.=,ENST00000381285,;ITSN1,synonymous_variant,p.=,ENST00000399367,;ITSN1,synonymous_variant,p.=,ENST00000437442,;ITSN1,3_prime_UTR_variant,,ENST00000399326,;AP000304.12,intron_variant,,ENST00000429238,;ITSN1,upstream_gene_variant,,ENST00000381284,;ITSN1,downstream_gene_variant,,ENST00000495656,;ITSN1,downstream_gene_variant,,ENST00000489261,;ITSN1,downstream_gene_variant,,ENST00000475422,;	uc002yta.1	c.3792A>G	4080/17015	3	3			c.3792A>G						21	SNP	c.(3790-3792)CAA>CAG	51	51			ovary(3)|skin(1)	4	Broad	intersectin 1 isoform ITSN-l			35230998		0.428	ENSG00000205726	7790	g.chr21:35230998A>G	apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity							6.045985	KEEP	8	3	-1	70	75	8	3	-1	29.068301	70	75	0.07874	1	0	0	0	0	0	0	1	0	--	--		0	G			DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Silent_p.Q1259Q|ITSN1_uc002ytj.2_Silent_p.Q1259Q|ITSN1_uc010gmm.1_RNA	41	GBM-06-0188-TP	p.Q1264Q	A	AGATTTTTCAAAAACCCCTGA	NM_003024	NP_003015	35230998	Q15811	ITSN1_HUMAN	0			31	4060	+	G	G			Silent	1264			DH.			
ITSN1	6453	broad.mit.edu	GRCh37	21	35174748	35174748	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0211-01	TCGA-06-0211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381318.3:c.2319G>A	p.Trp773Ter	p.W773*	ENST00000381318	NM_003024.2	773	tgG/tgA	0			1			A	W/*	uc002yta.1	protein_coding	YES	CCDS33545.1			2319/5166									ovary(3)|skin(1)	4	c.(2317-2319)TGG>TGA			PROSITE_profiles:PS50002,hmmpanther:PTHR11216:SF68,hmmpanther:PTHR11216,Pfam_domain:PF14604,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044	intersectin 1 isoform ITSN-l				ENSP00000370719		20/40									COSM2150806	20/40	.		ENST00000381318	Transcript			apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	ENSG00000205726	g.chr21:35174748G>A	6183			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,21,35174748,G,A&fts=all	W773*	--	--	1																																		DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_Intron|ITSN1_uc002ysz.2_Intron|ITSN1_uc010gmg.2_Intron|ITSN1_uc010gmh.2_Intron|ITSN1_uc002ysw.2_Nonsense_Mutation_p.W773*|ITSN1_uc010gmi.2_Nonsense_Mutation_p.W736*|ITSN1_uc010gmj.2_Intron|ITSN1_uc002ysy.2_Intron|ITSN1_uc002ysx.2_Intron|ITSN1_uc002ytb.1_Intron|ITSN1_uc002ytc.1_Intron|ITSN1_uc002ytd.2_Intron|ITSN1_uc010gmk.2_Nonsense_Mutation_p.W736*|ITSN1_uc010gml.2_Intron|ITSN1_uc002ytj.2_Intron|ITSN1_uc010gmm.1_Intron|ITSN1_uc002yte.2_Nonsense_Mutation_p.W707*|ITSN1_uc002ytf.1_RNA	1	1			p.W773*	NM_003024	NP_003015			1	ITSN1_HUMAN	ITSN1	HGNC	Q15811	ITSN1_HUMAN			D6PAW2_HUMAN,C9JXS9_HUMAN,C9J1A4_HUMAN		20	2587	+			UPI00001403C6	773			SH3 1.		SNV	ITSN1,stop_gained,p.Trp773Ter,ENST00000381318,NM_003024.2;ITSN1,stop_gained,p.Trp773Ter,ENST00000381291,NM_001001132.1;ITSN1,stop_gained,p.Trp773Ter,ENST00000399355,;ITSN1,stop_gained,p.Trp8Ter,ENST00000440794,;ITSN1,intron_variant,,ENST00000381285,;ITSN1,intron_variant,,ENST00000399367,;ITSN1,intron_variant,,ENST00000399352,;ITSN1,intron_variant,,ENST00000399349,;ITSN1,intron_variant,,ENST00000399326,;ITSN1,intron_variant,,ENST00000437442,;ITSN1,intron_variant,,ENST00000399353,;ITSN1,intron_variant,,ENST00000379960,;ITSN1,intron_variant,,ENST00000399338,;AP000304.12,intron_variant,,ENST00000429238,;ITSN1,missense_variant,p.Gly62Glu,ENST00000419241,;	uc002yta.1	c.2319G>A	2607/17015	5	1			c.2319G>A						21	SNP	c.(2317-2319)TGG>TGA	55	55			ovary(3)|skin(1)	4	Broad	intersectin 1 isoform ITSN-l			35174748		0.378	ENSG00000205726	7790	g.chr21:35174748G>A	apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity							448.345338	KEEP	90	80	-1	132	140	90	80	-1	452.373518	132	140	0.387363	1	0	0	0	0	0	1	0	0	--	--		0	A			DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_Intron|ITSN1_uc002ysz.2_Intron|ITSN1_uc010gmg.2_Intron|ITSN1_uc010gmh.2_Intron|ITSN1_uc002ysw.2_Nonsense_Mutation_p.W773*|ITSN1_uc010gmi.2_Nonsense_Mutation_p.W736*|ITSN1_uc010gmj.2_Intron|ITSN1_uc002ysy.2_Intron|ITSN1_uc002ysx.2_Intron|ITSN1_uc002ytb.1_Intron|ITSN1_uc002ytc.1_Intron|ITSN1_uc002ytd.2_Intron|ITSN1_uc010gmk.2_Nonsense_Mutation_p.W736*|ITSN1_uc010gml.2_Intron|ITSN1_uc002ytj.2_Intron|ITSN1_uc010gmm.1_Intron|ITSN1_uc002yte.2_Nonsense_Mutation_p.W707*|ITSN1_uc002ytf.1_RNA	48	GBM-06-0211-TP	p.W773*	G	AAGGGGAATGGGTAAGTGTTG	NM_003024	NP_003015	35174748	Q15811	ITSN1_HUMAN	0			20	2587	+	A	A			Nonsense_Mutation	773			SH3 1.			
ITSN1	0	broad.mit.edu	GRCh37	21	35231057	35231057	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-41-5651-01	TCGA-41-5651-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381318.3:c.3851A>C	p.Asn1284Thr	p.N1284T	ENST00000381318	NM_003024.2	1284	aAc/aCc	0			1			C	N/T	uc002yta.1	protein_coding	YES	CCDS33545.1			3851/5166									ovary(3)|skin(1)	4	c.(3850-3852)AAC>ACC			PROSITE_profiles:PS50010,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065	intersectin 1 isoform ITSN-l				ENSP00000370719		31/40									COSM3405377,COSM3405378	31/40	.		ENST00000381318	Transcript			apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	ENSG00000205726	g.chr21:35231057A>C	6183			MODERATE		2.645	medium	getma.org/?cm=msa&ty=f&p=ITSN1_HUMAN&rb=1241&re=1422&var=N1284T	getma.org/pdb.php?prot=ITSN1_HUMAN&from=1241&to=1422&var=N1284T	getma.org/?cm=var&var=hg19,21,35231057,A,C&fts=all	N1284T	--	--	1																																		DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.N1279T|ITSN1_uc002ytj.2_Missense_Mutation_p.N1279T|ITSN1_uc010gmm.1_RNA	1,1	1		probably_damaging(0.995)	p.N1284T	NM_003024	NP_003015		deleterious(0)	1,1	ITSN1_HUMAN	ITSN1	HGNC	Q15811	ITSN1_HUMAN			D6PAW2_HUMAN,C9JXS9_HUMAN,C9J1A4_HUMAN		31	4119	+			UPI00001403C6	1284			DH.		SNV	ITSN1,missense_variant,p.Asn1284Thr,ENST00000381318,NM_003024.2;ITSN1,missense_variant,p.Asn1284Thr,ENST00000381285,;ITSN1,missense_variant,p.Asn1279Thr,ENST00000399367,;ITSN1,missense_variant,p.Asn1279Thr,ENST00000437442,;ITSN1,missense_variant,p.Asn20Thr,ENST00000381284,;ITSN1,3_prime_UTR_variant,,ENST00000399326,;AP000304.12,intron_variant,,ENST00000429238,;ITSN1,downstream_gene_variant,,ENST00000495656,;ITSN1,downstream_gene_variant,,ENST00000489261,;ITSN1,downstream_gene_variant,,ENST00000475422,;	uc002yta.1	c.3851A>C	4139/17015	3	3			c.3851A>C						21	SNP	c.(3850-3852)AAC>ACC	61	61			ovary(3)|skin(1)	4	Broad	intersectin 1 isoform ITSN-l			35231057		0.453	ENSG00000205726	7790	g.chr21:35231057A>C	apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity							42.087257	KEEP	9	11	-1	57	44	9	11	-1	54.79874	57	44	0.157895	1	0	0	0	0	1	0	0	0	--	--		0	C			DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.N1279T|ITSN1_uc002ytj.2_Missense_Mutation_p.N1279T|ITSN1_uc010gmm.1_RNA	258	GBM-41-5651-TP	p.N1284T	A	ATTTTTGTGAACTGGAAGGAG	NM_003024	NP_003015	35231057	Q15811	ITSN1_HUMAN	0			31	4119	+	C	C			Missense_Mutation	1284			DH.			
ITSN2	0	broad.mit.edu	GRCh37	2	24526701	24526701	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-5134-01	TCGA-26-5134-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355123.4:c.824C>T	p.Ser275Leu	p.S275L	ENST00000355123	NM_006277.2	275	tCa/tTa	0			1			A	S/L	uc002rfe.2	protein_coding	YES	CCDS1710.2			824/5094									kidney(2)|ovary(1)|central_nervous_system(1)	4	c.(823-825)TCA>TTA			Gene3D:1.10.238.10,Pfam_domain:PF12763,PROSITE_profiles:PS50031,hmmpanther:PTHR11216,hmmpanther:PTHR11216:SF29,SMART_domains:SM00027,Superfamily_domains:SSF47473	intersectin 2 isoform 1				ENSP00000347244		Sep-40									COSM2157017,COSM2157018	Sep-40	.		ENST00000355123	Transcript			endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	ENSG00000198399	g.chr2:24526701G>A	6184			MODERATE		2.595	medium	getma.org/?cm=msa&ty=f&p=ITSN2_HUMAN&rb=241&re=333&var=S275L	getma.org/pdb.php?prot=ITSN2_HUMAN&from=241&to=333&var=S275L	getma.org/?cm=var&var=hg19,2,24526701,G,A&fts=all	S275L	--	--	1																																		ITSN2_uc002rff.2_Missense_Mutation_p.S275L|ITSN2_uc002rfg.2_Missense_Mutation_p.S275L|ITSN2_uc010eyd.2_Missense_Mutation_p.S300L	1,1	1		probably_damaging(0.999)	p.S275L	NM_006277	NP_006268		deleterious(0)	1,1	ITSN2_HUMAN	ITSN2	HGNC	Q9NZM3	ITSN2_HUMAN			Q53TM3_HUMAN,Q53TK4_HUMAN,F8W719_HUMAN		9	1082	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		UPI000013D415	275			EH 2.		SNV	ITSN2,missense_variant,p.Ser275Leu,ENST00000355123,NM_006277.2;ITSN2,missense_variant,p.Ser275Leu,ENST00000361999,NM_019595.3;ITSN2,missense_variant,p.Ser275Leu,ENST00000406921,NM_147152.2;ITSN2,missense_variant,p.Ser300Leu,ENST00000412011,;	uc002rfe.2	c.824C>T	1268/6300	1	1			c.824C>T						2	SNP	c.(823-825)TCA>TTA	52	52			kidney(2)|ovary(1)|central_nervous_system(1)	4	Broad	intersectin 2 isoform 1			24526701		0.318	ENSG00000198399	7791	g.chr2:24526701G>A	endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity							148.418292	KEEP	29	28	-1	51	30	29	28	-1	149.148219	51	30	0.416667	1	0	0	0	0	1	0	0	0	--	--		0	A			ITSN2_uc002rff.2_Missense_Mutation_p.S275L|ITSN2_uc002rfg.2_Missense_Mutation_p.S275L|ITSN2_uc010eyd.2_Missense_Mutation_p.S300L	183	GBM-26-5134-TP	p.S275L	G	AGAAAGATTTGACTGAAGAAG	NM_006277	NP_006268	24526701	Q9NZM3	ITSN2_HUMAN	0			9	1082	-	A	A	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Missense_Mutation	275			EH 2.			
ITSN2	0	broad.mit.edu	GRCh37	2	24435600	24435600	+	synonymous_variant	Silent	SNP	C	C	T	rs146758206	byFrequency	TCGA-41-2572-01	TCGA-41-2572-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355123.4:c.4008G>A	p.Pro1336=	p.P1336=	ENST00000355123	NM_006277.2	1336	ccG/ccA	0	T:0.0025	T:0.0015	1	T:0		T	P	uc002rfe.2	protein_coding	YES	CCDS1710.2			4008/5094									kidney(2)|ovary(1)|central_nervous_system(1)	4	c.(4006-4008)CCG>CCA			Gene3D:1.20.900.10,Pfam_domain:PF00621,PROSITE_profiles:PS50010,SMART_domains:SM00325,Superfamily_domains:SSF48065	intersectin 2 isoform 1		T:0	T:0	ENSP00000347244	T:0	33/40	0.000387	0.0024	0.000173	0.000347	0.000454	1.50E-05		0.000787	rs146758206,COSM3407770	33/40	common_variant		ENST00000355123	Transcript		T:0.0006	endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	ENSG00000198399	g.chr2:24435600C>T	6184			LOW								--	--	1																																		ITSN2_uc002rff.2_Silent_p.P1309P	0,1	1			p.P1336P	NM_006277	NP_006268	T:0.001		0,1	ITSN2_HUMAN	ITSN2	HGNC	Q9NZM3	ITSN2_HUMAN			Q53TM3_HUMAN,Q53TK4_HUMAN,F8W719_HUMAN		33	4266	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		UPI000013D415	1336			DH.		SNV	ITSN2,synonymous_variant,p.=,ENST00000355123,NM_006277.2;ITSN2,synonymous_variant,p.=,ENST00000361999,NM_019595.3;AC009228.1,upstream_gene_variant,,ENST00000430105,;AC009228.1,upstream_gene_variant,,ENST00000413254,;AC009228.1,upstream_gene_variant,,ENST00000413989,;ITSN2,upstream_gene_variant,,ENST00000427234,;ITSN2,upstream_gene_variant,,ENST00000479575,;ITSN2,upstream_gene_variant,,ENST00000449392,;	uc002rfe.2	c.4008G>A	4452/6300	2	2			c.4008G>A						2	SNP	c.(4006-4008)CCG>CCA	18	18			kidney(2)|ovary(1)|central_nervous_system(1)	4	Broad	intersectin 2 isoform 1			24435600		0.542	ENSG00000198399	7791	g.chr2:24435600C>T	endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity							207.003626	KEEP	37	48	-1	66	90	37	48	-1	211.961531	66	90	0.33945	1	0	0	0	0	0	0	1	0	--	--		0	T			ITSN2_uc002rff.2_Silent_p.P1309P	251	GBM-41-2572-TP	p.P1336P	C	CTTTACACCGCGGGTCAGATG	NM_006277	NP_006268	24435600	Q9NZM3	ITSN2_HUMAN	0			33	4266	-	T	T	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Silent	1336			DH.			
IVL	0	broad.mit.edu	GRCh37	1	152883944	152883944	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-12-0688-01	TCGA-12-0688-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368764.3:c.1671A>C	p.Pro557=	p.P557=	ENST00000368764		557	ccA/ccC	0			1			C	P	uc001fau.2	protein_coding	YES	CCDS1030.1			1671/1758									ovary(3)	3	c.(1669-1671)CCA>CCC			hmmpanther:PTHR13905	involucrin				ENSP00000357753		2-Feb									COSM2153924	2-Feb	.		ENST00000368764	Transcript			isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	ENSG00000163207	g.chr1:152883944A>C	6187			LOW								--	--	1																																			1	1			p.P557P	NM_005547	NP_005538			1	INVO_HUMAN	IVL	HGNC	P07476	INVO_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		J3KPN6_HUMAN		2	1717	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		UPI000013E24A	557					SNV	IVL,synonymous_variant,p.=,ENST00000368764,;IVL,synonymous_variant,p.=,ENST00000392667,NM_005547.2;	uc001fau.2	c.1671A>C	1735/2153	3	3			c.1671A>C						1	SNP	c.(1669-1671)CCA>CCC	5	5			ovary(3)	3	Broad	involucrin			152883944		0.398	ENSG00000163207	7793	g.chr1:152883944A>C	isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity							122.022553	KEEP	18	22	-1	34	37	18	22	-1	123.999942	34	37	0.35514	1	0	0	0	0	0	0	1	0	--	--		0	C				121	GBM-12-0688-TP	p.P557P	A	ACATTCAACCAGCCCTGCCCA	NM_005547	NP_005538	152883944	P07476	INVO_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.171)		2	1717	+	C	C	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Silent	557						
IVNS1ABP	0	broad.mit.edu	GRCh37	1	185267320	185267320	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01	TCGA-32-2495-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367498.3:c.1776G>A	p.Met592Ile	p.M592I	ENST00000367498	NM_006469.4	592	atG/atA	0			1			T	M/I	uc001grl.2	protein_coding	YES	CCDS1368.1			1776/1929									ovary(4)|central_nervous_system(1)	5	c.(1774-1776)ATG>ATA			Superfamily_domains:0052715,Gene3D:1k3iA02,Pfam_domain:PF01344,PIRSF_domain:PIRSF037037,Prints_domain:PR00501,hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF7,SMART_domains:SM00612	influenza virus NS1A binding protein				ENSP00000356468		15/15									COSM3400096	15/15	.		ENST00000367498	Transcript			interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		ENSG00000116679	g.chr1:185267320C>T	16951			MODERATE		2.955	medium	getma.org/?cm=msa&ty=f&p=NS1BP_HUMAN&rb=548&re=593&var=M592I	getma.org/pdb.php?prot=NS1BP_HUMAN&from=548&to=593&var=M592I	getma.org/?cm=var&var=hg19,1,185267320,C,T&fts=all	M592I	--	--	1																																		IVNS1ABP_uc001gri.2_Missense_Mutation_p.M252I|IVNS1ABP_uc001grj.2_Missense_Mutation_p.M252I|IVNS1ABP_uc009wyj.2_Missense_Mutation_p.M374I|IVNS1ABP_uc009wyk.2_RNA	1	1		probably_damaging(0.949)	p.M592I	NM_006469	NP_006460		deleterious(0.02)	1	NS1BP_HUMAN	IVNS1ABP	HGNC	Q9Y6Y0	NS1BP_HUMAN			B3KSM1_HUMAN		15	2399	-			UPI0000036B84	592			Kelch 5.		SNV	IVNS1ABP,missense_variant,p.Met592Ile,ENST00000367498,NM_006469.4;IVNS1ABP,missense_variant,p.Met374Ile,ENST00000392007,;IVNS1ABP,non_coding_transcript_exon_variant,,ENST00000459929,;IVNS1ABP,downstream_gene_variant,,ENST00000494880,;IVNS1ABP,non_coding_transcript_exon_variant,,ENST00000480769,;IVNS1ABP,non_coding_transcript_exon_variant,,ENST00000475046,;IVNS1ABP,downstream_gene_variant,,ENST00000468217,;IVNS1ABP,downstream_gene_variant,,ENST00000491112,;	uc001grl.2	c.1776G>A	2399/4199	2	2			c.1776G>A						1	SNP	c.(1774-1776)ATG>ATA	45	45			ovary(4)|central_nervous_system(1)	5	Broad	influenza virus NS1A binding protein			185267320		0.423	ENSG00000116679	7794	g.chr1:185267320C>T	interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex								-107.443791	KEEP	5	7	-1	265	293	5	7	-1	16.37688	265	293	0.022587	1	0	0	0	0	1	0	0	0	--	--		0	T			IVNS1ABP_uc001gri.2_Missense_Mutation_p.M252I|IVNS1ABP_uc001grj.2_Missense_Mutation_p.M252I|IVNS1ABP_uc009wyj.2_Missense_Mutation_p.M374I|IVNS1ABP_uc009wyk.2_RNA	237	GBM-32-2495-TP	p.M592I	C	TTGGTGAAGTCATATTTCCCA	NM_006469	NP_006460	185267320	Q9Y6Y0	NS1BP_HUMAN	0			15	2399	-	T	T			Missense_Mutation	592			Kelch 5.			
IWS1	55677	broad.mit.edu	GRCh37	2	128262546	128262547	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0192-01	TCGA-06-0192-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295321.4:c.932dup	p.Ala312CysfsTer3	p.A312Cfs*3	ENST00000295321	NM_017969.2	311	cct/ccCt	0			1			G	P/PX	uc002ton.2	protein_coding	YES	CCDS2146.1			932-933/2460									ovary(1)	1	c.(931-933)CCTfs			hmmpanther:PTHR22908:SF56,hmmpanther:PTHR22908	IWS1 homolog				ENSP00000295321		14-Mar										14-Mar	.		ENST00000295321	Transcript			transcription, DNA-dependent	nucleus	DNA binding	ENSG00000163166	g.chr2:128262546_128262547insG	25467			HIGH								--	--	1																																		IWS1_uc010yzl.1_RNA|uc002too.1_5'Flank|IWS1_uc010fma.2_RNA		1			p.P311fs	NM_017969	NP_060439				IWS1_HUMAN	IWS1	HGNC	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)			3	1235_1236	-	Colorectal(110;0.1)		UPI000006EA82	311			Glu-rich.		insertion	IWS1,frameshift_variant,p.Ala312CysfsTer3,ENST00000295321,NM_017969.2;IWS1,frameshift_variant,p.Ala319CysfsTer3,ENST00000455721,;IWS1,downstream_gene_variant,,ENST00000409725,;AC010976.2,intron_variant,,ENST00000599001,;IWS1,downstream_gene_variant,,ENST00000486662,;IWS1,downstream_gene_variant,,ENST00000495369,;IWS1,downstream_gene_variant,,ENST00000436740,;IWS1,downstream_gene_variant,,ENST00000460511,;IWS1,downstream_gene_variant,,ENST00000483889,;IWS1,downstream_gene_variant,,ENST00000479083,;IWS1,downstream_gene_variant,,ENST00000478949,;IWS1,upstream_gene_variant,,ENST00000497888,;	uc002ton.2	c.932_933insC	1192-1193/2958	5	5			c.932_933insC						2	INS	c.(931-933)CCTfs	42	42			ovary(1)	1	Broad	IWS1 homolog			128262547		0.54	ENSG00000163166	7795	g.chr2:128262546_128262547insG	transcription, DNA-dependent	nucleus	DNA binding																				0.01	1	0	0	1	1	0	0	0	0	--	--		0	G			IWS1_uc010yzl.1_RNA|uc002too.1_5'Flank|IWS1_uc010fma.2_RNA	44	GBM-06-0192-TP	p.P311fs	-	AGTCACTGGCAGGCCCCTTCTG	NM_017969	NP_060439	128262546	Q96ST2	IWS1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.0735)	3	1235_1236	-	G	G	Colorectal(110;0.1)		Frame_Shift_Ins	311			Glu-rich.			
IWS1	55677	broad.mit.edu	GRCh37	2	128238721	128238721	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0238-01	TCGA-06-0238-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295321.4:c.2359C>T	p.Arg787Ter	p.R787*	ENST00000295321	NM_017969.2	787	Cga/Tga	0			1			A	R/*	uc002ton.2	protein_coding	YES	CCDS2146.1			2359/2460									ovary(1)	1	c.(2359-2361)CGA>TGA			hmmpanther:PTHR22908:SF56,hmmpanther:PTHR22908	IWS1 homolog				ENSP00000295321		14/14									COSM2151094	14/14	.		ENST00000295321	Transcript			transcription, DNA-dependent	nucleus	DNA binding	ENSG00000163166	g.chr2:128238721G>A	25467			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,128238721,G,A&fts=all	R787*	--	--	1																																			1	1			p.R787*	NM_017969	NP_060439			1	IWS1_HUMAN	IWS1	HGNC	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)			14	2662	-	Colorectal(110;0.1)		UPI000006EA82	787					SNV	IWS1,stop_gained,p.Arg787Ter,ENST00000295321,NM_017969.2;AC010976.2,intron_variant,,ENST00000596439,;AC010976.2,intron_variant,,ENST00000598065,;AC010976.2,intron_variant,,ENST00000595561,;AC010976.2,intron_variant,,ENST00000599001,;AC010976.2,intron_variant,,ENST00000454503,;IWS1,intron_variant,,ENST00000412979,;	uc002ton.2	c.2359C>T	2619/2958	5	1			c.2359C>T						2	SNP	c.(2359-2361)CGA>TGA	59	59			ovary(1)	1	Broad	IWS1 homolog			128238721		0.388	ENSG00000163166	7795	g.chr2:128238721G>A	transcription, DNA-dependent	nucleus	DNA binding							187.206378	KEEP	33	30	-1	44	38	33	30	-1	187.72542	44	38	0.433824	1	0	0	0	0	0	1	0	0	--	--		0	A				55	GBM-06-0238-TP	p.R787*	G	TTATCCAGTCGACTGATACCC	NM_017969	NP_060439	128238721	Q96ST2	IWS1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.0735)	14	2662	-	A	A	Colorectal(110;0.1)		Nonsense_Mutation	787						
JADE1	79960	broad.mit.edu	GRCh37	4	129770219	129770219	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-06-0184-01	TCGA-06-0184-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000226319.6:c.381C>G	p.Gly127=	p.G127=	ENST00000226319	NM_199320.2	127	ggC/ggG	0			1			G	G	uc003igk.2	protein_coding	YES	CCDS34062.1			381/2529										0	c.(379-381)GGC>GGG			Pfam_domain:PF10513,hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF79	PHD finger protein 17 long isoform				ENSP00000226319		11-May									COSM3409052,COSM3409053	11-May	.		ENST00000226319	Transcript			apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	ENSG00000077684	g.chr4:129770219C>G	30027			LOW								--	--	1																																		PHF17_uc003igj.2_Silent_p.G127G|PHF17_uc003igl.2_Silent_p.G115G|PHF17_uc011cgy.1_Silent_p.G127G|PHF17_uc003igm.2_Silent_p.G127G	1,1	1			p.G127G	NM_199320	NP_955352			1,1	JADE1_HUMAN	JADE1	HGNC	Q6IE81	JADE1_HUMAN			D6RGE7_HUMAN,D6RFK0_HUMAN,D6RCS1_HUMAN,D6RC05_HUMAN,D6RBB3_HUMAN		5	661	+			UPI000020B45B	127					SNV	JADE1,synonymous_variant,p.=,ENST00000226319,NM_199320.2,NM_001287443.1,NM_001287440.1,NM_001287439.1,NM_001287442.1;JADE1,synonymous_variant,p.=,ENST00000452328,NM_001287437.1;JADE1,synonymous_variant,p.=,ENST00000413543,NM_001287441.1;JADE1,synonymous_variant,p.=,ENST00000511647,NM_024900.3;JADE1,synonymous_variant,p.=,ENST00000512960,;JADE1,synonymous_variant,p.=,ENST00000503785,;JADE1,synonymous_variant,p.=,ENST00000504089,;JADE1,synonymous_variant,p.=,ENST00000510308,;JADE1,synonymous_variant,p.=,ENST00000507833,;JADE1,downstream_gene_variant,,ENST00000508997,;JADE1,3_prime_UTR_variant,,ENST00000511925,;	uc003igk.2	c.381C>G	661/5771	3	3			c.381C>G						4	SNP	c.(379-381)GGC>GGG	51	51				0	Broad	PHD finger protein 17 long isoform			129770219		0.488	ENSG00000077684	11632	g.chr4:129770219C>G	apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding							-30.83366	KEEP	4	0	-1	94	74	4	0	-1	8.900316	94	74	0.025157	1	0	0	0	0	0	0	1	0	--	--		0	G			PHF17_uc003igj.2_Silent_p.G127G|PHF17_uc003igl.2_Silent_p.G115G|PHF17_uc011cgy.1_Silent_p.G127G|PHF17_uc003igm.2_Silent_p.G127G	39	GBM-06-0184-TP	p.G127G	C	CCGAGTTGGGCTATGTGGACA	NM_199320	NP_955352	129770219	Q6IE81	JADE1_HUMAN	0			5	661	+	G	G			Silent	127						
JADE1	79960	broad.mit.edu	GRCh37	4	129770286	129770286	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0185-01	TCGA-06-0185-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000226319.6:c.448T>A	p.Trp150Arg	p.W150R	ENST00000226319	NM_199320.2	150	Tgg/Agg	0			1			A	W/R	uc003igk.2	protein_coding	YES	CCDS34062.1			448/2529										0	c.(448-450)TGG>AGG			Pfam_domain:PF10513,hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF79	PHD finger protein 17 long isoform				ENSP00000226319		11-May									COSM2150552,COSM2150553	11-May	.		ENST00000226319	Transcript			apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	ENSG00000077684	g.chr4:129770286T>A	30027			MODERATE		2.865	medium	getma.org/?cm=msa&ty=f&p=JADE1_HUMAN&rb=29&re=181&var=W150R	NA	getma.org/?cm=var&var=hg19,4,129770286,T,A&fts=all	W150R	--	--	1																																		PHF17_uc003igj.2_Missense_Mutation_p.W150R|PHF17_uc003igl.2_Missense_Mutation_p.W138R|PHF17_uc011cgy.1_Missense_Mutation_p.W150R|PHF17_uc003igm.2_Missense_Mutation_p.W150R	1,1	1		probably_damaging(0.984)	p.W150R	NM_199320	NP_955352		deleterious(0)	1,1	JADE1_HUMAN	JADE1	HGNC	Q6IE81	JADE1_HUMAN			D6RGE7_HUMAN,D6RFK0_HUMAN,D6RCS1_HUMAN,D6RC05_HUMAN,D6RBB3_HUMAN		5	728	+			UPI000020B45B	150					SNV	JADE1,missense_variant,p.Trp150Arg,ENST00000226319,NM_199320.2,NM_001287443.1,NM_001287440.1,NM_001287439.1,NM_001287442.1;JADE1,missense_variant,p.Trp138Arg,ENST00000452328,NM_001287437.1;JADE1,missense_variant,p.Trp150Arg,ENST00000413543,NM_001287441.1;JADE1,missense_variant,p.Trp150Arg,ENST00000511647,NM_024900.3;JADE1,missense_variant,p.Trp150Arg,ENST00000512960,;JADE1,downstream_gene_variant,,ENST00000503785,;JADE1,downstream_gene_variant,,ENST00000504089,;JADE1,downstream_gene_variant,,ENST00000510308,;JADE1,downstream_gene_variant,,ENST00000507833,;JADE1,downstream_gene_variant,,ENST00000508997,;JADE1,3_prime_UTR_variant,,ENST00000511925,;	uc003igk.2	c.448T>A	728/5771	2	2			c.448T>A						4	SNP	c.(448-450)TGG>AGG	29	29				0	Broad	PHD finger protein 17 long isoform			129770286		0.468	ENSG00000077684	11632	g.chr4:129770286T>A	apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding							113.951768	KEEP	15	19	-1	14	22	15	19	-1	113.954845	14	22	0.492754	1	0	0	0	0	1	0	0	0	--	--		0	A			PHF17_uc003igj.2_Missense_Mutation_p.W150R|PHF17_uc003igl.2_Missense_Mutation_p.W138R|PHF17_uc011cgy.1_Missense_Mutation_p.W150R|PHF17_uc003igm.2_Missense_Mutation_p.W150R	40	GBM-06-0185-TP	p.W150R	T	GGATGCTGCATGGCTGGAACT	NM_199320	NP_955352	129770286	Q6IE81	JADE1_HUMAN	0			5	728	+	A	A			Missense_Mutation	150						
JADE2	0	broad.mit.edu	GRCh37	5	133902013	133902013	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01	TCGA-16-1045-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395003.1:c.1177C>T	p.Arg393Cys	p.R393C	ENST00000395003	NM_015288.4	393	Cgc/Tgc	0			1			T	R/C	uc003kzo.1	protein_coding	YES	CCDS4176.1			1177/2373										0	c.(1177-1179)CGC>TGC			hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF84	PHD finger protein 15				ENSP00000378451		11-Sep									COSM3138105,COSM3409736	11-Sep	.		ENST00000395003	Transcript			histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	ENSG00000043143	g.chr5:133902013C>T	22984			MODERATE		2.54	medium	getma.org/?cm=msa&ty=f&p=JADE2_HUMAN&rb=365&re=515&var=R393C	NA	getma.org/?cm=var&var=hg19,5,133902013,C,T&fts=all	R393C	--	--	1																																		PHF15_uc011cxt.1_Missense_Mutation_p.R393C|PHF15_uc003kzk.2_Missense_Mutation_p.R409C|PHF15_uc003kzl.2_Missense_Mutation_p.R393C|PHF15_uc003kzm.2_Missense_Mutation_p.R393C|PHF15_uc003kzn.2_Missense_Mutation_p.R393C|PHF15_uc003kzp.2_Missense_Mutation_p.R101C	1,1	1		probably_damaging(0.998)	p.R393C	NM_015288	NP_056103		deleterious(0)	1,1	JADE2_HUMAN	JADE2	HGNC	Q9NQC1	JADE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		D6R9B8_HUMAN,C9J929_HUMAN		9	1356	+			UPI00002331C9	393					SNV	JADE2,missense_variant,p.Arg393Cys,ENST00000395003,NM_015288.4;JADE2,missense_variant,p.Arg393Cys,ENST00000361895,;JADE2,missense_variant,p.Arg393Cys,ENST00000402835,;JADE2,missense_variant,p.Arg393Cys,ENST00000282605,;JADE2,downstream_gene_variant,,ENST00000431355,;JADE2,non_coding_transcript_exon_variant,,ENST00000470876,;	uc003kzo.1	c.1177C>T	1356/6463	1	1			c.1177C>T						5	SNP	c.(1177-1179)CGC>TGC	15	15				0	Broad	PHD finger protein 15			133902013		0.642	ENSG00000043143	11630	g.chr5:133902013C>T	histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding							-16.029554	KEEP	1	3	-1	90	88	1	3	-1	7.29298	90	88	0.039216	1	0	0	0	0	1	0	0	0	--	--		0	T			PHF15_uc011cxt.1_Missense_Mutation_p.R393C|PHF15_uc003kzk.2_Missense_Mutation_p.R409C|PHF15_uc003kzl.2_Missense_Mutation_p.R393C|PHF15_uc003kzm.2_Missense_Mutation_p.R393C|PHF15_uc003kzn.2_Missense_Mutation_p.R393C|PHF15_uc003kzp.2_Missense_Mutation_p.R101C	157	GBM-16-1045-TP	p.R393C	C	GGTGACCCTGCGCAAGCAGCG	NM_015288	NP_056103	133902013	Q9NQC1	JADE2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1356	+	T	T			Missense_Mutation	393						
JADE3	0	broad.mit.edu	GRCh37	X	46918293	46918293	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-27-1832-01	TCGA-27-1832-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000218343.4:c.2286G>C	p.Gln762His	p.Q762H	ENST00000218343	NM_014735.3	762	caG/caC	0			1			C	Q/H	uc004dgx.2	protein_coding	YES	CCDS14271.1			2286/2472										0	c.(2284-2286)CAG>CAC			hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF27	PHD finger protein 16				ENSP00000218343		11-Nov									COSM3406388	11-Nov	.		ENST00000218343	Transcript			histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	ENSG00000102221	g.chrX:46918293G>C	22982			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=JADE3_HUMAN&rb=586&re=821&var=Q762H	NA	getma.org/?cm=var&var=hg19,X,46918293,G,C&fts=all	Q762H	--	--	1																																		PHF16_uc004dgy.2_Missense_Mutation_p.Q762H	1	1		possibly_damaging(0.718)	p.Q762H	NM_001077445	NP_001070913		deleterious_low_confidence(0.04)	1	JADE3_HUMAN	JADE3	HGNC	Q92613	JADE3_HUMAN			F2Z3N8_HUMAN,F2Z2B6_HUMAN		11	2337	+			UPI0000073DE6	762					SNV	JADE3,missense_variant,p.Gln762His,ENST00000218343,NM_014735.3;JADE3,missense_variant,p.Gln762His,ENST00000397189,NM_001077445.1;	uc004dgx.2	c.2286G>C	2584/4931	3	3			c.2286G>C						23	SNP	c.(2284-2286)CAG>CAC	56	56				0	Broad	PHD finger protein 16			46918293		0.483	ENSG00000102221	11631	g.chrX:46918293G>C	histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding							51.057275	KEEP	12	10	-1	28	41	12	10	-1	56.504102	28	41	0.235294	1	0	0	0	0	1	0	0	0	--	--		0	C			PHF16_uc004dgy.2_Missense_Mutation_p.Q762H	191	GBM-27-1832-TP	p.Q762H	G	CTCCATATCAGGAAAATGATG	NM_001077445	NP_001070913	46918293	Q92613	JADE3_HUMAN	0			11	2337	+	C	C			Missense_Mutation	762						
JADE3	9767		GRCh37	X	46884151	46884151	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000218343.4:c.310G>A	p.Val104Ile	p.V104I	ENST00000218343	NM_014735.3	104	Gtt/Att	0																																																																																																																																																																																																																																												
JAG1	182	broad.mit.edu	GRCh37	20	10644609	10644612	+	splice_donor_variant,coding_sequence_variant	Splice_Site	DEL	ACGA	ACGA	-			TCGA-06-6388-01	TCGA-06-6388-01	ACGA	ACGA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254958.5:c.438_439+2del		p.X146_splice	ENST00000254958	NM_000214.2	146		0			1			-		uc002wnw.2	protein_coding	YES	CCDS13112.1			438-?/3657									lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9	c.e3+1				jagged 1 precursor				ENSP00000254958		26-Mar										26-Mar	.	Alagille_Syndrome	ENST00000254958	Transcript	1		angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	ENSG00000101384	g.chr20:10644609_10644612delACGA	6188			HIGH	25-Mar							--	--	1																																				1			p.Q147_splice	NM_000214	NP_000205				JAG1_HUMAN	JAG1	HGNC	P78504	JAG1_HUMAN			B7U6M8_HUMAN,B4DYR1_HUMAN		3	955	-			UPI00000498B5						deletion	JAG1,splice_donor_variant,,ENST00000254958,NM_000214.2;JAG1,upstream_gene_variant,,ENST00000423891,;	uc002wnw.2	c.439_splice	954-?/5987	5	5			c.439_splice						20	DEL	c.e3+1	55	55			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Broad	jagged 1 precursor			10644612	Alagille_Syndrome	0.466	ENSG00000101384	7798	g.chr20:10644609_10644612delACGA	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			587			587														0.21	1	1	0	1	0	0	0	0	1	--	--		0	-				104	GBM-06-6388-TP	p.Q147_splice	ACGA	AGCGATACTTACGAACGGTGTCAT	NM_000214	NP_000205	10644609	P78504	JAG1_HUMAN	0			3	955	-	-	-			Splice_Site							
JAG2	3714	broad.mit.edu	GRCh37	14	105617967	105617967	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0213-01	TCGA-06-0213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331782.3:c.1149C>T	p.Ala383=	p.A383=	ENST00000331782	NM_002226.4	383	gcC/gcT	0			1			A	A	uc001yqg.2	protein_coding	YES	CCDS9998.1			1149/3717									lung(3)|breast(2)	5	c.(1147-1149)GCC>GCT			PROSITE_profiles:PS50026,hmmpanther:PTHR24044:SF235,hmmpanther:PTHR24044,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57196	jagged 2 isoform a precursor				ENSP00000328169		26-Aug									COSM3401171	26-Aug	.		ENST00000331782	Transcript			auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	ENSG00000184916	g.chr14:105617967G>A	6189			LOW								--	--	1																																		JAG2_uc001yqf.2_5'Flank|JAG2_uc001yqh.2_Silent_p.A383A	1	1			p.A383A	NM_002226	NP_002217			1	JAG2_HUMAN	JAG2	HGNC	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)			8	1553	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	UPI0000167BD5	383			EGF-like 4.|Extracellular (Potential).		SNV	JAG2,synonymous_variant,p.=,ENST00000331782,NM_002226.4;JAG2,synonymous_variant,p.=,ENST00000347004,NM_145159.2;RP11-44N21.4,downstream_gene_variant,,ENST00000548203,;JAG2,upstream_gene_variant,,ENST00000546616,;JAG2,upstream_gene_variant,,ENST00000553244,;JAG2,downstream_gene_variant,,ENST00000553051,;	uc001yqg.2	c.1149C>T	1553/5835	1	1			c.1149C>T						14	SNP	c.(1147-1149)GCC>GCT	61	61			lung(3)|breast(2)	5	Broad	jagged 2 isoform a precursor			105617967		0.652	ENSG00000184916	7799	g.chr14:105617967G>A	auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			501			501	18.648813	KEEP	2	4	-1	3	7	2	4	-1	18.665547	3	7	0.461538	1	0	0	0	0	0	0	1	0	--	--		0	A			JAG2_uc001yqf.2_5'Flank|JAG2_uc001yqh.2_Silent_p.A383A	49	GBM-06-0213-TP	p.A383A	G	ACTCACCAAGGGCACAGGTGG	NM_002226	NP_002217	105617967	Q9Y219	JAG2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	8	1553	-	A	A		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	Silent	383			EGF-like 4.|Extracellular (Potential).			
JAG2	0	broad.mit.edu	GRCh37	14	105612833	105612833	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331782.3:c.2598C>T	p.Ile866=	p.I866=	ENST00000331782	NM_002226.4	866	atC/atT	0	A:0.0002	A:0	1	A:0		A	I	uc001yqg.2	protein_coding	YES	CCDS9998.1			2598/3717									lung(3)|breast(2)	5	c.(2596-2598)ATC>ATT			hmmpanther:PTHR24044:SF235,hmmpanther:PTHR24044	jagged 2 isoform a precursor		A:0.001	A:0.0002	ENSP00000328169	A:0	22/26	3.30E-05	0.000199				3.08E-05			rs369469630,COSM3401170	22/26	.		ENST00000331782	Transcript		A:0.0002	auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	ENSG00000184916	g.chr14:105612833G>A	6189			LOW								--	--	1																																		JAG2_uc010axf.2_5'UTR|JAG2_uc001yqf.2_Silent_p.I270I|JAG2_uc001yqh.2_Silent_p.I828I	0,1	1			p.I866I	NM_002226	NP_002217	A:0		0,1	JAG2_HUMAN	JAG2	HGNC	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)			22	3002	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	UPI0000167BD5	866			Extracellular (Potential).		SNV	JAG2,synonymous_variant,p.=,ENST00000331782,NM_002226.4;JAG2,synonymous_variant,p.=,ENST00000347004,NM_145159.2;JAG2,non_coding_transcript_exon_variant,,ENST00000546616,;JAG2,downstream_gene_variant,,ENST00000553244,;	uc001yqg.2	c.2598C>T	3002/5835	1	1			c.2598C>T						14	SNP	c.(2596-2598)ATC>ATT	58	58			lung(3)|breast(2)	5	Broad	jagged 2 isoform a precursor			105612833		0.682	ENSG00000184916	7799	g.chr14:105612833G>A	auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			501			501	132.133337	KEEP	20	25	-1	20	29	20	25	-1	132.173454	20	29	0.477273	1	0	0	0	0	0	0	1	0	--	--		0	A			JAG2_uc010axf.2_5'UTR|JAG2_uc001yqf.2_Silent_p.I270I|JAG2_uc001yqh.2_Silent_p.I828I	125	GBM-12-3649-TP	p.I866I	G	TCCCGAACCCGATCACTGTGG	NM_002226	NP_002217	105612833	Q9Y219	JAG2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	22	3002	-	A	A		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	Silent	866			Extracellular (Potential).			
JAG2	0	broad.mit.edu	GRCh37	14	105618019	105618019	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs140813175		TCGA-12-3649-01	TCGA-12-3649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331782.3:c.1097C>T	p.Pro366Leu	p.P366L	ENST00000331782	NM_002226.4	366	cCg/cTg	0	A:0.0005		1			A	P/L	uc001yqg.2	protein_coding	YES	CCDS9998.1			1097/3717									lung(3)|breast(2)	5	c.(1096-1098)CCG>CTG			PROSITE_profiles:PS50026,hmmpanther:PTHR24044:SF235,hmmpanther:PTHR24044,Pfam_domain:PF00008,Gene3D:2gy5A03,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57196	jagged 2 isoform a precursor			A:0	ENSP00000328169		26-Aug	1.65E-05	0.000255							rs140813175,COSM3401172	26-Aug	.		ENST00000331782	Transcript			auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	ENSG00000184916	g.chr14:105618019G>A	6189			MODERATE		0.475	neutral	getma.org/?cm=msa&ty=f&p=JAG2_HUMAN&rb=351&re=381&var=P366L	NA	getma.org/?cm=var&var=hg19,14,105618019,G,A&fts=all	P366L	--	--	1																																		JAG2_uc001yqf.2_5'Flank|JAG2_uc001yqh.2_Missense_Mutation_p.P366L	0,1	1		benign(0.01)	p.P366L	NM_002226	NP_002217		deleterious(0.01)	0,1	JAG2_HUMAN	JAG2	HGNC	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)			8	1501	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	UPI0000167BD5	366			EGF-like 4.|Extracellular (Potential).		SNV	JAG2,missense_variant,p.Pro366Leu,ENST00000331782,NM_002226.4;JAG2,missense_variant,p.Pro366Leu,ENST00000347004,NM_145159.2;RP11-44N21.4,downstream_gene_variant,,ENST00000548203,;JAG2,non_coding_transcript_exon_variant,,ENST00000553051,;JAG2,upstream_gene_variant,,ENST00000546616,;JAG2,upstream_gene_variant,,ENST00000553244,;	uc001yqg.2	c.1097C>T	1501/5835	1	1			c.1097C>T						14	SNP	c.(1096-1098)CCG>CTG	62	62			lung(3)|breast(2)	5	Broad	jagged 2 isoform a precursor			105618019		0.667	ENSG00000184916	7799	g.chr14:105618019G>A	auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			501			501	31.741579	KEEP	6	6	-1	8	9	6	6	-1	31.960964	8	9	0.4	1	0	0	0	0	1	0	0	0	--	--		0	A			JAG2_uc001yqf.2_5'Flank|JAG2_uc001yqh.2_Missense_Mutation_p.P366L	125	GBM-12-3649-TP	p.P366L	G	GAAGCCGGACGGCACCTCATG	NM_002226	NP_002217	105618019	Q9Y219	JAG2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	8	1501	-	A	A		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	Missense_Mutation	366			EGF-like 4.|Extracellular (Potential).			
JAG2	0	broad.mit.edu	GRCh37	14	105609273	105609273	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01	TCGA-19-5951-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331782.3:c.3476G>A	p.Arg1159His	p.R1159H	ENST00000331782	NM_002226.4	1159	cGc/cAc	0	T:0	T:0.0008	1	T:0		T	R/H	uc001yqg.2	protein_coding	YES	CCDS9998.1			3476/3717									lung(3)|breast(2)	5	c.(3475-3477)CGC>CAC			hmmpanther:PTHR24044:SF235,hmmpanther:PTHR24044	jagged 2 isoform a precursor		T:0	T:0.0007	ENSP00000328169	T:0	26/26	0.00055	0.000149			0.000197	0.00111		0.000201	rs200736888,COSM2156636	26/26	common_variant		ENST00000331782	Transcript		T:0.0004	auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	ENSG00000184916	g.chr14:105609273C>T	6189			MODERATE		0.41	neutral	getma.org/?cm=msa&ty=f&p=JAG2_HUMAN&rb=1062&re=1238&var=R1159H	NA	getma.org/?cm=var&var=hg19,14,105609273,C,T&fts=all	R1159H	--	--	1																																		JAG2_uc010axf.2_5'UTR|JAG2_uc001yqf.2_Missense_Mutation_p.R563H|JAG2_uc001yqh.2_Missense_Mutation_p.R1121H	0,1	1		benign(0.006)	p.R1159H	NM_002226	NP_002217	T:0.001	tolerated(0.62)	0,1	JAG2_HUMAN	JAG2	HGNC	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)			26	3880	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	UPI0000167BD5	1159			Cytoplasmic (Potential).		SNV	JAG2,missense_variant,p.Arg1159His,ENST00000331782,NM_002226.4;JAG2,missense_variant,p.Arg1121His,ENST00000347004,NM_145159.2;JAG2,non_coding_transcript_exon_variant,,ENST00000546616,;JAG2,downstream_gene_variant,,ENST00000553244,;	uc001yqg.2	c.3476G>A	3880/5835	2	2			c.3476G>A						14	SNP	c.(3475-3477)CGC>CAC	21	21			lung(3)|breast(2)	5	Broad	jagged 2 isoform a precursor			105609273		0.463	ENSG00000184916	7799	g.chr14:105609273C>T	auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			501			501	66.01275	KEEP	11	16	-1	6	11	11	16	-1	66.621601	6	11	0.638889	1	0	0	0	0	1	0	0	0	--	--		0	T			JAG2_uc010axf.2_5'UTR|JAG2_uc001yqf.2_Missense_Mutation_p.R563H|JAG2_uc001yqh.2_Missense_Mutation_p.R1121H	171	GBM-19-5951-TP	p.R1159H	C	gtccgccctgcgcggcggcgg	NM_002226	NP_002217	105609273	Q9Y219	JAG2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	26	3880	-	T	T		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	Missense_Mutation	1159			Cytoplasmic (Potential).			
JAG2	0	broad.mit.edu	GRCh37	14	105609172	105609172	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331782.3:c.3577G>A	p.Ala1193Thr	p.A1193T	ENST00000331782	NM_002226.4	1193	Gcg/Acg	0			1			T	A/T	uc001yqg.2	protein_coding	YES	CCDS9998.1			3577/3717									lung(3)|breast(2)	5	c.(3577-3579)GCG>ACG			hmmpanther:PTHR24044:SF235,hmmpanther:PTHR24044	jagged 2 isoform a precursor				ENSP00000328169		26/26									COSM3401169	26/26	.		ENST00000331782	Transcript			auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	ENSG00000184916	g.chr14:105609172C>T	6189			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=JAG2_HUMAN&rb=1062&re=1238&var=A1193T	NA	getma.org/?cm=var&var=hg19,14,105609172,C,T&fts=all	A1193T	--	--	1																																		JAG2_uc010axf.2_Silent_p.R16R|JAG2_uc001yqf.2_Missense_Mutation_p.A597T|JAG2_uc001yqh.2_Missense_Mutation_p.A1155T	1	1		benign(0.26)	p.A1193T	NM_002226	NP_002217		tolerated(0.14)	1	JAG2_HUMAN	JAG2	HGNC	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)			26	3981	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	UPI0000167BD5	1193			Cytoplasmic (Potential).		SNV	JAG2,missense_variant,p.Ala1193Thr,ENST00000331782,NM_002226.4;JAG2,missense_variant,p.Ala1155Thr,ENST00000347004,NM_145159.2;JAG2,non_coding_transcript_exon_variant,,ENST00000546616,;JAG2,downstream_gene_variant,,ENST00000553244,;	uc001yqg.2	c.3577G>A	3981/5835	2	2			c.3577G>A						14	SNP	c.(3577-3579)GCG>ACG	33	33			lung(3)|breast(2)	5	Broad	jagged 2 isoform a precursor			105609172		0.512	ENSG00000184916	7799	g.chr14:105609172C>T	auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			501			501	14.473301	KEEP	2	4	-1	13	14	2	4	-1	16.556051	13	14	0.214286	1	0	0	0	0	1	0	0	0	--	--		0	T			JAG2_uc010axf.2_Silent_p.R16R|JAG2_uc001yqf.2_Missense_Mutation_p.A597T|JAG2_uc001yqh.2_Missense_Mutation_p.A1155T	246	GBM-32-4211-TP	p.A1193T	C	AACTTCTCCGCCTCCAGGGAG	NM_002226	NP_002217	105609172	Q9Y219	JAG2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	26	3981	-	T	T		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	Missense_Mutation	1193			Cytoplasmic (Potential).			
JAG2	3714		GRCh37	14	105622280	105622280	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000331782.3:c.522G>A	p.Pro174=	p.P174=	ENST00000331782	NM_002226.4	174	ccG/ccA	0																																																																																																																																																																																																																																												
JAG2	3714		GRCh37	14	105622189	105622189	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000331782.3:c.613G>A	p.Ala205Thr	p.A205T	ENST00000331782	NM_002226.4	205	Gcc/Acc	0																																																																																																																																																																																																																																												
JAK1	0	broad.mit.edu	GRCh37	1	65301859	65301860	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	AT			TCGA-28-5219-01	TCGA-28-5219-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342505.4:c.3178_3179dupAT	p.Ala1061LeufsTer16	p.A1061Lfs*16	ENST00000342505	NM_002227.2	1060	att/atATt	0			1			AT	I/IX	uc001dbu.1	protein_coding	YES	CCDS41346.1			3179-3180/3465	Mis				ALL				haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61	c.(3178-3180)ATTfs			PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF67,Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000636,SMART_domains:SM00219,Superfamily_domains:SSF56112	janus kinase 1				ENSP00000343204		23/25										23/25	.		ENST00000342505	Transcript			interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	ENSG00000162434	g.chr1:65301859_65301860insAT	6190			HIGH								--	--	1																																		JAK1_uc009wam.1_Frame_Shift_Ins_p.I1048fs|JAK1_uc009wal.1_Frame_Shift_Ins_p.I237fs		1			p.I1060fs	NM_002227	NP_002218				JAK1_HUMAN	JAK1	HGNC	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)			23	3428_3429	-			UPI0000054C7D	1060			Protein kinase 2.		insertion	JAK1,frameshift_variant,p.Ala1061LeufsTer16,ENST00000342505,NM_002227.2;RAVER2,downstream_gene_variant,,ENST00000294428,;RAVER2,downstream_gene_variant,,ENST00000371072,NM_018211.3;JAK1,downstream_gene_variant,,ENST00000481702,;	uc001dbu.1	c.3179_3180insAT	3428-3429/5047	5	5			c.3179_3180insAT	Mis				ALL	1	INS	c.(3178-3180)ATTfs	37	37			haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61	Broad	janus kinase 1			65301860		0.421	ENSG00000162434	7801	g.chr1:65301859_65301860insAT	interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			1025			1025														0.38	1	0	0	1	1	0	0	0	0	--	--		0	AT			JAK1_uc009wam.1_Frame_Shift_Ins_p.I1048fs|JAK1_uc009wal.1_Frame_Shift_Ins_p.I237fs	225	GBM-28-5219-TP	p.I1060fs	-	CGTCAGAGGCAATATAAAATTT	NM_002227	NP_002218	65301859	P23458	JAK1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(111;0.0485)	23	3428_3429	-	AT	AT			Frame_Shift_Ins	1060			Protein kinase 2.			
JAK1	0	broad.mit.edu	GRCh37	1	65313353	65313353	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-4208-01	TCGA-32-4208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342505.4:c.1761G>T	p.Glu587Asp	p.E587D	ENST00000342505	NM_002227.2	587	gaG/gaT	0			1			A	E/D	uc001dbu.1	protein_coding	YES	CCDS41346.1			1761/3465	Mis				ALL				haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61	c.(1759-1761)GAG>GAT			PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF67,Gene3D:3.30.200.20,Pfam_domain:PF07714,PIRSF_domain:PIRSF000636,SMART_domains:SM00219,Superfamily_domains:SSF56112	janus kinase 1				ENSP00000343204		13/25									COSM3400951	13/25	.		ENST00000342505	Transcript			interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	ENSG00000162434	g.chr1:65313353C>A	6190			MODERATE		2.07	medium	getma.org/?cm=msa&ty=f&p=JAK1_HUMAN&rb=583&re=845&var=E587D	getma.org/pdb.php?prot=JAK1_HUMAN&from=583&to=845&var=E587D	getma.org/?cm=var&var=hg19,1,65313353,C,A&fts=all	E587D	--	--	1																																		JAK1_uc009wam.1_Missense_Mutation_p.E575D|JAK1_uc009wal.1_5'Flank	1	1		probably_damaging(0.985)	p.E587D	NM_002227	NP_002218		tolerated(0.16)	1	JAK1_HUMAN	JAK1	HGNC	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)			13	2010	-			UPI0000054C7D	587			Protein kinase 1.		SNV	JAK1,missense_variant,p.Glu587Asp,ENST00000342505,NM_002227.2;JAK1,non_coding_transcript_exon_variant,,ENST00000465376,;JAK1,upstream_gene_variant,,ENST00000471473,;	uc001dbu.1	c.1761G>T	2010/5047	2	2			c.1761G>T	Mis				ALL	1	SNP	c.(1759-1761)GAG>GAT	29	29			haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61	Broad	janus kinase 1			65313353		0.507	ENSG00000162434	7801	g.chr1:65313353C>A	interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			1025			1025	-36.361521	KEEP	3	1	0.25	87	110	3	1	0.25	6.306874	87	110	0.023669	1	0	0	0	0	1	0	0	0	--	--		0	A			JAK1_uc009wam.1_Missense_Mutation_p.E575D|JAK1_uc009wal.1_5'Flank	243	GBM-32-4208-TP	p.E587D	C	TCCCAAGGTGCTCGCCCTGAG	NM_002227	NP_002218	65313353	P23458	JAK1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(111;0.0485)	13	2010	-	A	A			Missense_Mutation	587			Protein kinase 1.			
JAK2	0	broad.mit.edu	GRCh37	9	5073770	5073770	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs77375493		TCGA-76-4928-01	TCGA-76-4928-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381652.3:c.1849G>T	p.Val617Phe	p.V617F	ENST00000381652	NM_004972.3	617	Gtc/Ttc	0			1			T	V/F	uc010mhm.2	protein_coding	YES	CCDS6457.1	V617F(HEL9217_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	1	1849/3399	T|Mis|O		ETV6|PCM1|BCR		ALL|AML|MPD| CML	pathogenic,risk_factor	PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	p.V617F(28228)|p.V617_C618>FR(2)|p.V617I(1)|p.V617V(1)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	c.(1849-1851)GTC>TTC			PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF179,Pfam_domain:PF07714,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000636,SMART_domains:SM00219,Superfamily_domains:SSF56112	Janus kinase 2				ENSP00000371067		14/25	0.000692	0.000587	0.000348	0.000581	0.000454	0.000826		0.000546	rs77375493,COSM12600	14/25	.	Polycythemia_Vera_Familial	ENST00000381652	Transcript	1		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	ENSG00000096968	g.chr9:5073770G>T	6192			MODERATE		2	medium	getma.org/?cm=msa&ty=f&p=JAK2_HUMAN&rb=545&re=805&var=V617F	getma.org/pdb.php?prot=JAK2_HUMAN&from=545&to=805&var=V617F	getma.org/?cm=var&var=hg19,9,5073770,G,T&fts=all	V617F	--	--	1																																		JAK2_uc003ziw.2_Missense_Mutation_p.V617F	1,1	1		probably_damaging(0.983)	p.V617F	NM_004972	NP_004963		deleterious(0)	0,1	JAK2_HUMAN	JAK2	HGNC	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Q8IXP2_HUMAN,F5H5U8_HUMAN		13	1962	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	UPI000012DA9E	617		V -> F (in PV and AML; associated with susceptibility to Budd-Chiari syndrome; somatic mutation in a high percentage of patients with essential thrombocythemia or myelofibrosis; leads to constitutive tyrosine phosphorylation activity that promotes cytokine hypersensitivity).	Protein kinase 1.		SNV	JAK2,missense_variant,p.Val617Phe,ENST00000381652,NM_004972.3;JAK2,missense_variant,p.Val617Phe,ENST00000539801,;JAK2,missense_variant,p.Val468Phe,ENST00000544510,;AL161450.1,downstream_gene_variant,,ENST00000601793,;	uc010mhm.2	c.1849G>T	2343/5285	2	2	V617F(HEL9217_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	1	c.1849G>T	T|Mis|O		ETV6|PCM1|BCR		ALL|AML|MPD| CML	9	SNP	c.(1849-1851)GTC>TTC	36	36	PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	p.V617F(28228)|p.V617_C618>FR(2)|p.V617I(1)|p.V617V(1)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	Broad	Janus kinase 2			5073770	Polycythemia_Vera_Familial	0.343	ENSG00000096968	7802	g.chr9:5073770G>T	actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		p.V617F(HEL-Tumor)|p.V617F(SET2-Tumor)|p.V617F(HEL92.1.7-Tumor)	432		p.V617F(HEL-Tumor)|p.V617F(SET2-Tumor)|p.V617F(HEL92.1.7-Tumor)	432	-22.126552	KEEP	2	5	0.285714286	95	89	2	5	0.285714286	15.808403	95	89	0.041667	1	0	0	0	0	1	0	0	0	--	--		0	T			JAK2_uc003ziw.2_Missense_Mutation_p.V617F	268	GBM-76-4928-TP	p.V617F	G	TGGAGTATGTGTCTGTGGAGA	NM_004972	NP_004963	5073770	O60674	JAK2_HUMAN	0		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	13	1962	+	T	T	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	Missense_Mutation	617		V -> F (in PV and AML; associated with susceptibility to Budd-Chiari syndrome; somatic mutation in a high percentage of patients with essential thrombocythemia or myelofibrosis; leads to constitutive tyrosine phosphorylation activity that promotes cytokine hypersensitivity).	Protein kinase 1.			
JAK2	3717		GRCh37	9	5080558	5080558	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000381652.3:c.2309A>T	p.His770Leu	p.H770L	ENST00000381652	NM_004972.3	770	cAt/cTt	0																																																																																																																																																																																																																																												
JAK3	0	broad.mit.edu	GRCh37	19	17945947	17945947	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-26-5135-01	TCGA-26-5135-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000458235.1:c.1992G>A	p.Pro664=	p.P664=	ENST00000458235	NM_000215.3	664	ccG/ccA	0	T:0		1			T	P	uc002nhn.3	protein_coding	YES	CCDS12366.1		2	1992/3375	Mis				acute megakaryocytic leukemia|				haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56	c.(1990-1992)CCG>CCA			Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000636,PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF214,SMART_domains:SM00219,Superfamily_domains:SSF56112	Janus kinase 3			T:0.0001	ENSP00000391676		15/24	4.94E-05		0.000173			6.06E-05			rs200499852,COSM2157063,COSM2157062	15/24	.		ENST00000458235	Transcript	1		B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	ENSG00000105639	g.chr19:17945947C>T	6193			LOW								--	--	1																																		JAK3_uc010ebh.2_Intron|JAK3_uc002nho.2_Silent_p.P664P	0,1,1	1			p.P664P	NM_000215	NP_000206			0,1,1	JAK3_HUMAN	JAK3	HGNC	P52333	JAK3_HUMAN			Q9UMU1_HUMAN,Q6LD09_HUMAN		15	2092	-			UPI0000071146	664			Protein kinase 1.		SNV	JAK3,synonymous_variant,p.=,ENST00000458235,NM_000215.3;JAK3,synonymous_variant,p.=,ENST00000527670,;JAK3,synonymous_variant,p.=,ENST00000534444,;JAK3,downstream_gene_variant,,ENST00000526008,;JAK3,intron_variant,,ENST00000527031,;JAK3,downstream_gene_variant,,ENST00000528705,;	uc002nhn.3	c.1992G>A	2092/5432	2	2		2	c.1992G>A	Mis				acute megakaryocytic leukemia|	19	SNP	c.(1990-1992)CCG>CCA	43	43			haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56	Broad	Janus kinase 3			17945947		0.637	ENSG00000105639	7803	g.chr19:17945947C>T	B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			364			364	130.90755	KEEP	28	27	-1	30	35	28	27	-1	131.146966	30	35	0.45045	1	0	0	0	0	0	0	1	0	--	--		0	T			JAK3_uc010ebh.2_Intron|JAK3_uc002nho.2_Silent_p.P664P	184	GBM-26-5135-TP	p.P664P	C	TGATGAAGGGCGGGCTCCCAT	NM_000215	NP_000206	17945947	P52333	JAK3_HUMAN	0			15	2092	-	T	T			Silent	664			Protein kinase 1.			
JAK3	0	broad.mit.edu	GRCh37	19	17943330	17943330	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01	TCGA-28-5207-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000458235.1:c.2678C>T	p.Pro893Leu	p.P893L	ENST00000458235	NM_000215.3	893	cCg/cTg	0			1			A	P/L	uc002nhn.3	protein_coding	YES	CCDS12366.1		2	2678/3375	Mis				acute megakaryocytic leukemia|				haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56	c.(2677-2679)CCG>CTG			Gene3D:3.30.200.20,Pfam_domain:PF07714,PIRSF_domain:PIRSF000636,Prints_domain:PR01823,PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF214,SMART_domains:SM00219,Superfamily_domains:SSF56112	Janus kinase 3				ENSP00000391676		19/24	4.12E-05			0.000578					rs772027199,COSM2157339,COSM2157338	19/24	common_variant		ENST00000458235	Transcript	1		B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	ENSG00000105639	g.chr19:17943330G>A	6193			MODERATE		1.07	low	getma.org/?cm=msa&ty=f&p=JAK3_HUMAN&rb=822&re=1095&var=P893L	getma.org/pdb.php?prot=JAK3_HUMAN&from=822&to=1095&var=P893L	getma.org/?cm=var&var=hg19,19,17943330,G,A&fts=all	P893L	--	--	1																																		JAK3_uc010ebh.2_Intron|JAK3_uc002nho.2_Missense_Mutation_p.P893L	0,1,1	1		benign(0.015)	p.P893L	NM_000215	NP_000206		tolerated(0.24)	0,1,1	JAK3_HUMAN	JAK3	HGNC	P52333	JAK3_HUMAN			Q9UMU1_HUMAN,Q6LD09_HUMAN		19	2778	-			UPI0000071146	893			Protein kinase 2.		SNV	JAK3,missense_variant,p.Pro893Leu,ENST00000458235,NM_000215.3;JAK3,missense_variant,p.Pro893Leu,ENST00000527670,;JAK3,missense_variant,p.Pro893Leu,ENST00000534444,;JAK3,intron_variant,,ENST00000527031,;	uc002nhn.3	c.2678C>T	2778/5432	2	2		2	c.2678C>T	Mis				acute megakaryocytic leukemia|	19	SNP	c.(2677-2679)CCG>CTG	47	47			haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56	Broad	Janus kinase 3			17943330		0.542	ENSG00000105639	7803	g.chr19:17943330G>A	B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			364			364	187.785455	KEEP	26	43	-1	61	61	26	43	-1	189.804108	61	61	0.380368	1	0	0	0	0	1	0	0	0	--	--		0	A			JAK3_uc010ebh.2_Intron|JAK3_uc002nho.2_Missense_Mutation_p.P893L	216	GBM-28-5207-TP	p.P893L	G	TGGCTCACCCGGGCCATAGCT	NM_000215	NP_000206	17943330	P52333	JAK3_HUMAN	0			19	2778	-	A	A			Missense_Mutation	893			Protein kinase 2.			
JAK3	3718		GRCh37	19	17937673	17937673	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000458235.1:c.3254G>A	p.Arg1085Gln	p.R1085Q	ENST00000458235	NM_000215.3	1085	cGg/cAg	0																																																																																																																																																																																																																																												
JAKMIP1	152789	broad.mit.edu	GRCh37	4	6107274	6107274	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01	TCGA-06-0744-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409021.3:c.550C>T	p.Arg184Cys	p.R184C	ENST00000409021	NM_001099433.1	184	Cgt/Tgt	0			1			A	R/C	uc003giu.3	protein_coding		CCDS3385.1			550/1881									large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4	c.(550-552)CGT>TGT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18935	janus kinase and microtubule interacting protein				ENSP00000282924		13-Mar									COSM3409388,COSM3409387	13-Mar	.		ENST00000282924	Transcript			protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	ENSG00000152969	g.chr4:6107274G>A	26460			MODERATE		2.545	medium	getma.org/?cm=msa&ty=f&p=JKIP1_HUMAN&rb=1&re=602&var=R184C	NA	getma.org/?cm=var&var=hg19,4,6107274,G,A&fts=all	R184C	--	--	1																																		JAKMIP1_uc010idb.1_Missense_Mutation_p.R184C|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.R184C|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Missense_Mutation_p.R184C|JAKMIP1_uc010ide.2_Missense_Mutation_p.R184C	1,1			probably_damaging(0.96)	p.R184C	NM_144720	NP_653321		deleterious(0)	1,1	JKIP1_HUMAN	JAKMIP1	HGNC	Q96N16	JKIP1_HUMAN			F2Z2K5_HUMAN		3	826	-			UPI000006EC16	184			Potential.|Mediates association with microtubules.		SNV	JAKMIP1,missense_variant,p.Arg184Cys,ENST00000409021,NM_001099433.1;JAKMIP1,missense_variant,p.Arg184Cys,ENST00000282924,NM_144720.3;JAKMIP1,missense_variant,p.Arg184Cys,ENST00000409831,;JAKMIP1,intron_variant,,ENST00000409371,;JAKMIP1,intron_variant,,ENST00000410077,;JAKMIP1,intron_variant,,ENST00000457227,;JAKMIP1,missense_variant,p.Arg184Cys,ENST00000473053,;	uc003giu.3	c.550C>T	1036/2585	2	2			c.550C>T						4	SNP	c.(550-552)CGT>TGT	41	41			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4	Broad	janus kinase and microtubule interacting protein			6107274		0.682	ENSG00000152969	7804	g.chr4:6107274G>A	protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding							3.910621	KEEP	1	3	-1	12	8	1	3	-1	6.493003	12	8	0.142857	1	0	0	0	0	1	0	0	0	--	--		0	A			JAKMIP1_uc010idb.1_Missense_Mutation_p.R184C|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.R184C|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Missense_Mutation_p.R184C|JAKMIP1_uc010ide.2_Missense_Mutation_p.R184C	66	GBM-06-0744-TP	p.R184C	G	TAGGCGGCACGCAGGTCGGCT	NM_144720	NP_653321	6107274	Q96N16	JKIP1_HUMAN	0			3	826	-	A	A			Missense_Mutation	184			Potential.|Mediates association with microtubules.			
JAKMIP1	0	broad.mit.edu	GRCh37	4	6062187	6062187	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6573-01	TCGA-74-6573-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282924.5:c.1608C>T	p.Ile536=	p.I536=	ENST00000282924	NM_144720.3	536	atC/atT	0			1			A	I	uc003giu.3	protein_coding		CCDS3385.1			1608/1881						not_provided			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4	c.(1606-1608)ATC>ATT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18935	janus kinase and microtubule interacting protein				ENSP00000282924		13-Nov	8.24E-06			0.000116					rs267600201,COSM3409386,COSM3409385	13-Nov	.		ENST00000282924	Transcript			protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	ENSG00000152969	g.chr4:6062187G>A	26460			LOW								--	--	1																																		JAKMIP1_uc010idb.1_Silent_p.I536I|JAKMIP1_uc010idc.1_Silent_p.I351I|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc011bwc.1_Silent_p.I371I|JAKMIP1_uc003giv.3_Silent_p.I536I|JAKMIP1_uc010ide.2_Silent_p.I536I	1,1,1				p.I536I	NM_144720	NP_653321			0,1,1	JKIP1_HUMAN	JAKMIP1	HGNC	Q96N16	JKIP1_HUMAN			F2Z2K5_HUMAN		11	1884	-			UPI000006EC16	536			Mediates interaction with TYK2 and GABBR1.|Potential.		SNV	JAKMIP1,synonymous_variant,p.=,ENST00000409021,NM_001099433.1;JAKMIP1,synonymous_variant,p.=,ENST00000282924,NM_144720.3;JAKMIP1,synonymous_variant,p.=,ENST00000409371,;JAKMIP1,synonymous_variant,p.=,ENST00000409831,;JAKMIP1,synonymous_variant,p.=,ENST00000410077,;JAKMIP1,downstream_gene_variant,,ENST00000457227,;JAKMIP1,synonymous_variant,p.=,ENST00000473053,;	uc003giu.3	c.1608C>T	2094/2585	1	1			c.1608C>T						4	SNP	c.(1606-1608)ATC>ATT	63	63			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4	Broad	janus kinase and microtubule interacting protein			6062187		0.532	ENSG00000152969	7804	g.chr4:6062187G>A	protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding							225.968108	KEEP	36	54	-1	79	73	36	54	-1	228.989564	79	73	0.372642	1	0	0	0	0	0	0	1	0	--	--		0	A			JAKMIP1_uc010idb.1_Silent_p.I536I|JAKMIP1_uc010idc.1_Silent_p.I351I|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc011bwc.1_Silent_p.I371I|JAKMIP1_uc003giv.3_Silent_p.I536I|JAKMIP1_uc010ide.2_Silent_p.I536I	260	GBM-74-6573-TP	p.I536I	G	CCAAATCTTCGATTTTGGCCT	NM_144720	NP_653321	6062187	Q96N16	JKIP1_HUMAN	0			11	1884	-	A	A			Silent	536			Mediates interaction with TYK2 and GABBR1.|Potential.			
JAKMIP2	0	broad.mit.edu	GRCh37	5	147012259	147012259	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1043-01	TCGA-14-1043-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265272.5:c.1760G>A	p.Arg587Gln	p.R587Q	ENST00000265272	NM_014790.4	587	cGa/cAa	0			1			T	R/Q	uc003loq.1	protein_coding	YES	CCDS4285.1			1760/2433									large_intestine(1)|ovary(1)	2	c.(1759-1761)CGA>CAA			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18935,hmmpanther:PTHR18935:SF7	janus kinase and microtubule interacting protein				ENSP00000265272		13/21									COSM1211244,COSM3409970	13/21	.		ENST00000265272	Transcript				Golgi apparatus		ENSG00000176049	g.chr5:147012259C>T	29067			MODERATE		2.305	medium	getma.org/?cm=msa&ty=f&p=JKIP2_HUMAN&rb=1&re=803&var=R587Q	NA	getma.org/?cm=var&var=hg19,5,147012259,C,T&fts=all	R587Q	--	--	1																																		JAKMIP2_uc011dbx.1_Missense_Mutation_p.R545Q|JAKMIP2_uc003lor.1_Missense_Mutation_p.R566Q|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Missense_Mutation_p.R587Q	1,1	1		probably_damaging(0.964)	p.R587Q	NM_014790	NP_055605		deleterious(0)	1,1	JKIP2_HUMAN	JAKMIP2	HGNC	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				13	2142	-			UPI000000D782	587			Potential.		SNV	JAKMIP2,missense_variant,p.Arg587Gln,ENST00000265272,NM_014790.4,NM_001270941.1;JAKMIP2,missense_variant,p.Arg566Gln,ENST00000507386,NM_001270934.1;JAKMIP2,missense_variant,p.Arg545Gln,ENST00000333010,NM_001282282.1;JAKMIP2,non_coding_transcript_exon_variant,,ENST00000504845,;	uc003loq.1	c.1760G>A	2228/6001	1	1			c.1760G>A						5	SNP	c.(1759-1761)CGA>CAA	15	15			large_intestine(1)|ovary(1)	2	Broad	janus kinase and microtubule interacting protein			147012259		0.289	ENSG00000176049	7805	g.chr5:147012259C>T		Golgi apparatus								130.964113	KEEP	35	27	-1	84	96	35	27	-1	141.978279	84	96	0.257282	1	0	0	0	0	1	0	0	0	--	--		0	T			JAKMIP2_uc011dbx.1_Missense_Mutation_p.R545Q|JAKMIP2_uc003lor.1_Missense_Mutation_p.R566Q|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Missense_Mutation_p.R587Q	143	GBM-14-1043-TP	p.R587Q	C	CTCTAGGTTTCGAAACTCCAG	NM_014790	NP_055605	147012259	Q96AA8	JKIP2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	2142	-	T	T			Missense_Mutation	587			Potential.			
JAKMIP3	282973	broad.mit.edu	GRCh37	10	133949482	133949482	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0157-01	TCGA-06-0157-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298622.4:c.1022del	p.Asn341ThrfsTer22	p.N341Tfs*22	ENST00000298622	NM_001105521.2	340	Aaa/aa	0			1			-	K/X	uc001lkx.3	protein_coding	YES	CCDS44494.1			1018/2535									breast(1)	1	c.(1018-1020)AAAfs			hmmpanther:PTHR18935,hmmpanther:PTHR18935:SF5	Janus kinase and microtubule interacting protein				ENSP00000298622		24-May									COSM2150047	24-May	.		ENST00000298622	Transcript						ENSG00000188385	g.chr10:133949482delA	23523	4		HIGH								--	--	1																																			1	1			p.K340fs	NM_001105521	NP_001098991			1	JKIP3_HUMAN	JAKMIP3	HGNC				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)			5	1018	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)	UPI000157482F						deletion	JAKMIP3,frameshift_variant,p.Asn341ThrfsTer22,ENST00000298622,NM_001105521.2;	uc001lkx.3	c.1018delA	1156/6626	5	5			c.1018delA						10	DEL	c.(1018-1020)AAAfs	63	63			breast(1)	1	Broad	Janus kinase and microtubule interacting protein			133949482		0.443	ENSG00000188385	7806	g.chr10:133949482delA																							0.81	1	1	0	1	0	0	0	0	0	--	--		0	-				28	GBM-06-0157-TP	p.K340fs	A	TCTGCTGGATAAAAACAAGCG	NM_001105521	NP_001098991	133949482			0		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	5	1018	+	-	-		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)	Frame_Shift_Del							
JARID2	3720	broad.mit.edu	GRCh37	6	15520428	15520428	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-02-2485-01	TCGA-02-2485-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341776.2:c.3687C>T	p.Pro1229=	p.P1229=	ENST00000341776	NM_004973.3	1229	ccC/ccT	0	T:0	T:0	1	T:0		T	P	uc003nbj.2	protein_coding	YES	CCDS4533.1			3687/3741									ovary(2)|lung(1)|pancreas(1)	4	c.(3685-3687)CCC>CCT			hmmpanther:PTHR10694	jumonji, AT rich interactive domain 2 protein		T:0	T:0.0001	ENSP00000341280	T:0.001	18/18	0.000272					0.00015		0.00139	rs200263166,COSM3410720	18/18	common_variant		ENST00000341776	Transcript		T:0.0004	central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	ENSG00000008083	g.chr6:15520428C>T	6196			LOW								--	--	1																																		JARID2_uc011div.1_Silent_p.P1057P	0,1	1			p.P1229P	NM_004973	NP_004964	T:0.001		0,1	JARD2_HUMAN	JARID2	HGNC	Q92833	JARD2_HUMAN			Q96PA1_HUMAN		18	3931	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	UPI0000161C67	1229					SNV	JARID2,synonymous_variant,p.=,ENST00000341776,NM_004973.3;JARID2,synonymous_variant,p.=,ENST00000397311,NM_001267040.1;DTNBP1,downstream_gene_variant,,ENST00000338950,NM_183040.2;DTNBP1,downstream_gene_variant,,ENST00000344537,NM_001271667.1,NM_001271668.1,NM_032122.4;DTNBP1,downstream_gene_variant,,ENST00000355917,;DTNBP1,downstream_gene_variant,,ENST00000462989,;DTNBP1,downstream_gene_variant,,ENST00000511762,NM_001271669.1;DTNBP1,downstream_gene_variant,,ENST00000509674,;DTNBP1,downstream_gene_variant,,ENST00000506844,;DTNBP1,downstream_gene_variant,,ENST00000513680,;DTNBP1,downstream_gene_variant,,ENST00000510395,;DTNBP1,downstream_gene_variant,,ENST00000515875,;DTNBP1,downstream_gene_variant,,ENST00000514651,;	uc003nbj.2	c.3687C>T	3931/5755	2	2			c.3687C>T						6	SNP	c.(3685-3687)CCC>CCT	33	33			ovary(2)|lung(1)|pancreas(1)	4	Broad	jumonji, AT rich interactive domain 2 protein			15520428		0.373	ENSG00000008083	7809	g.chr6:15520428C>T	central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			694			694	116.66489	KEEP	22	24	-1	36	54	22	24	-1	118.525891	36	54	0.362832	1	0	0	0	0	0	0	1	0	--	--		0	T			JARID2_uc011div.1_Silent_p.P1057P	7	GBM-02-2485-TP	p.P1229P	C	TGGACGTGCCCCCCTCCCGTC	NM_004973	NP_004964	15520428	Q92833	JARD2_HUMAN	0			18	3931	+	T	T	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	Silent	1229						
JMJD1C	0	broad.mit.edu	GRCh37	10	64960280	64960282	+	inframe_deletion	In_Frame_Del	DEL	TTC	TTC	-			TCGA-19-2629-01	TCGA-19-2629-01	TTC	TTC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399262.2:c.5230_5232delGAA	p.Glu1744del	p.E1744del	ENST00000399262	NM_032776.1	1744	GAA/-	0			1			-	E/-	uc001jmn.2	protein_coding	YES	CCDS41532.1			5230-5232/7623									ovary(4)|breast(1)|central_nervous_system(1)	6	c.(5230-5232)GAAdel			hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF6	jumonji domain containing 1C isoform a				ENSP00000382204		26-Nov										26-Nov	.		ENST00000399262	Transcript	1		blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	ENSG00000171988	g.chr10:64960280_64960282delTTC	12313			MODERATE								--	--	1																																		JMJD1C_uc001jml.2_In_Frame_Del_p.E1525del|JMJD1C_uc001jmm.2_In_Frame_Del_p.E1456del|JMJD1C_uc010qiq.1_In_Frame_Del_p.E1562del|JMJD1C_uc009xpi.2_In_Frame_Del_p.E1562del|JMJD1C_uc009xpj.1_Intron|JMJD1C_uc009xpk.1_Intron		1			p.E1744del	NM_032776	NP_116165				JHD2C_HUMAN	JMJD1C	HGNC	Q15652	JHD2C_HUMAN					11	5530_5532	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		UPI0000198BEF	1744					deletion	JMJD1C,inframe_deletion,p.Glu1744del,ENST00000399262,NM_032776.1;JMJD1C,inframe_deletion,p.Glu1525del,ENST00000402544,NM_004241.2;JMJD1C,inframe_deletion,p.Glu1562del,ENST00000542921,NM_001282948.1;JMJD1C,intron_variant,,ENST00000399251,;JMJD1C,intron_variant,,ENST00000327520,;	uc001jmn.2	c.5230_5232delGAA	5449-5451/8666	5	5			c.5230_5232delGAA						10	DEL	c.(5230-5232)GAAdel	33	33			ovary(4)|breast(1)|central_nervous_system(1)	6	Broad	jumonji domain containing 1C isoform a			64960282		0.35	ENSG00000171988	7814	g.chr10:64960280_64960282delTTC	blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding																				0.38	1	1	0	1	0	0	0	0	0	--	--		0	-			JMJD1C_uc001jml.2_In_Frame_Del_p.E1525del|JMJD1C_uc001jmm.2_In_Frame_Del_p.E1456del|JMJD1C_uc010qiq.1_In_Frame_Del_p.E1562del|JMJD1C_uc009xpi.2_In_Frame_Del_p.E1562del|JMJD1C_uc009xpj.1_Intron|JMJD1C_uc009xpk.1_Intron	166	GBM-19-2629-TP	p.E1744del	TTC	AGTGAGCTGGTTCTTCTCCTTTT	NM_032776	NP_116165	64960280	Q15652	JHD2C_HUMAN	0			11	5530_5532	-	-	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		In_Frame_Del	1744						
JMJD1C	0	broad.mit.edu	GRCh37	10	64950737	64950737	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399262.2:c.6208C>T	p.Leu2070=	p.L2070=	ENST00000399262	NM_032776.1	2070	Ctg/Ttg	0			1			A	L	uc001jmn.2	protein_coding	YES	CCDS41532.1			6208/7623									ovary(4)|breast(1)|central_nervous_system(1)	6	c.(6208-6210)CTG>TTG			hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF6	jumonji domain containing 1C isoform a				ENSP00000382204		17/26									COSM465843,COSM465842	17/26	.		ENST00000399262	Transcript	1		blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	ENSG00000171988	g.chr10:64950737G>A	12313			LOW								--	--	1																																		JMJD1C_uc001jml.2_Silent_p.L1833L|JMJD1C_uc001jmm.2_Silent_p.L1782L|JMJD1C_uc010qiq.1_Silent_p.L1888L|JMJD1C_uc009xpi.2_Silent_p.L1888L|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmo.2_5'UTR	1,1	1			p.L2070L	NM_032776	NP_116165			1,1	JHD2C_HUMAN	JMJD1C	HGNC	Q15652	JHD2C_HUMAN					17	6508	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		UPI0000198BEF	2070			LXXLL motif.		SNV	JMJD1C,synonymous_variant,p.=,ENST00000399262,NM_032776.1;JMJD1C,synonymous_variant,p.=,ENST00000402544,NM_004241.2;JMJD1C,synonymous_variant,p.=,ENST00000542921,NM_001282948.1;JMJD1C,synonymous_variant,p.=,ENST00000327520,;JMJD1C,3_prime_UTR_variant,,ENST00000399251,;JMJD1C,non_coding_transcript_exon_variant,,ENST00000497922,;JMJD1C,downstream_gene_variant,,ENST00000483298,;JMJD1C,downstream_gene_variant,,ENST00000490669,;	uc001jmn.2	c.6208C>T	6427/8666	2	2			c.6208C>T						10	SNP	c.(6208-6210)CTG>TTG	24	24			ovary(4)|breast(1)|central_nervous_system(1)	6	Broad	jumonji domain containing 1C isoform a			64950737		0.463	ENSG00000171988	7814	g.chr10:64950737G>A	blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding							-28.003017	KEEP	3	0	-1	59	92	3	0	-1	6.387187	59	92	0.022222	1	0	0	0	0	0	0	1	0	--	--		0	A			JMJD1C_uc001jml.2_Silent_p.L1833L|JMJD1C_uc001jmm.2_Silent_p.L1782L|JMJD1C_uc010qiq.1_Silent_p.L1888L|JMJD1C_uc009xpi.2_Silent_p.L1888L|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmo.2_5'UTR	235	GBM-32-2491-TP	p.L2070L	G	GTTGTAGTCAGCAAATCCCGT	NM_032776	NP_116165	64950737	Q15652	JHD2C_HUMAN	0			17	6508	-	A	A	Prostate(12;0.0119)|all_hematologic(501;0.191)		Silent	2070			LXXLL motif.			
JMJD4	0	broad.mit.edu	GRCh37	1	227922480	227922480	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-4210-01	TCGA-32-4210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366758.3:c.438G>T	p.Gln146His	p.Q146H	ENST00000366758	NM_023007.2	146	caG/caT	0			1			A	Q/H	uc001hrb.2	protein_coding	YES	CCDS1561.1			438/1392										0	c.(436-438)CAG>CAT			hmmpanther:PTHR12480:SF6,hmmpanther:PTHR12480,Gene3D:1vrbA01,Pfam_domain:PF13621,Superfamily_domains:SSF51197	jumonji domain containing 4 isoform 1				ENSP00000355720		6-Feb									COSM3400371	6-Feb	.		ENST00000366758	Transcript						ENSG00000081692	g.chr1:227922480C>A	25724			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=JMJD4_HUMAN&rb=87&re=335&var=Q146H	getma.org/pdb.php?prot=JMJD4_HUMAN&from=87&to=335&var=Q146H	getma.org/?cm=var&var=hg19,1,227922480,C,A&fts=all	Q146H	--	--	1																																		SNAP47_uc001hqz.2_Intron|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_5'Flank|SNAP47_uc001hre.2_5'Flank|SNAP47_uc001hrf.2_5'Flank|JMJD4_uc001hrc.2_Missense_Mutation_p.Q146H	1	1		possibly_damaging(0.726)	p.Q146H	NM_023007	NP_075383		deleterious(0.01)	1	JMJD4_HUMAN	JMJD4	HGNC	Q9H9V9	JMJD4_HUMAN					2	438	-		Prostate(94;0.0885)	UPI000013FE0C	146					SNV	JMJD4,missense_variant,p.Gln146His,ENST00000366758,NM_023007.2;JMJD4,missense_variant,p.Gln146His,ENST00000438896,NM_001161465.1;SNAP47,intron_variant,,ENST00000366760,;SNAP47,upstream_gene_variant,,ENST00000426344,;SNAP47,upstream_gene_variant,,ENST00000366759,NM_053052.3;SNAP47,upstream_gene_variant,,ENST00000418653,;SNAP47,upstream_gene_variant,,ENST00000315781,;JMJD4,non_coding_transcript_exon_variant,,ENST00000480590,;SNAP47,intron_variant,,ENST00000475930,;SNAP47,intron_variant,,ENST00000491439,;JMJD4,upstream_gene_variant,,ENST00000485807,;SNAP47,downstream_gene_variant,,ENST00000480897,;SNAP47,downstream_gene_variant,,ENST00000480265,;SNAP47,upstream_gene_variant,,ENST00000470038,;JMJD4,upstream_gene_variant,,ENST00000465251,;	uc001hrb.2	c.438G>T	438/2595	1	1			c.438G>T						1	SNP	c.(436-438)CAG>CAT	51	51				0	Broad	jumonji domain containing 4 isoform 1			227922480		0.552	ENSG00000081692	7815	g.chr1:227922480C>A										-28.132918	KEEP	3	2	0.4	84	78	3	2	0.4	7.857904	84	78	0.027397	1	0	0	0	0	1	0	0	0	--	--		0	A			SNAP47_uc001hqz.2_Intron|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_5'Flank|SNAP47_uc001hre.2_5'Flank|SNAP47_uc001hrf.2_5'Flank|JMJD4_uc001hrc.2_Missense_Mutation_p.Q146H	245	GBM-32-4210-TP	p.Q146H	C	AGTTGTATTCCTGGACCCCAC	NM_023007	NP_075383	227922480	Q9H9V9	JMJD4_HUMAN	0			2	438	-	A	A		Prostate(94;0.0885)	Missense_Mutation	146						
JMJD6	0	broad.mit.edu	GRCh37	17	74721588	74721588	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-15-0742-01	TCGA-15-0742-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397625.4:c.479T>C	p.Leu160Pro	p.L160P	ENST00000397625	NM_015167.2	160	cTt/cCt	0			1			G	L/P	uc002jso.2	protein_coding		CCDS42384.1			479/1212									skin(2)|ovary(1)	3	c.(478-480)CTT>CCT			PROSITE_profiles:PS51184,hmmpanther:PTHR12480:SF5,hmmpanther:PTHR12480,Gene3D:1vrbA01,SMART_domains:SM00558,Superfamily_domains:SSF51197	jumonji domain containing 6 isoform 2				ENSP00000380750		6-Feb									COSM3403243,COSM3403242	6-Feb	.		ENST00000397625	Transcript			mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding	ENSG00000070495	g.chr17:74721588A>G	19355			MODERATE		3.95	high	getma.org/?cm=msa&ty=f&p=JMJD6_HUMAN&rb=141&re=305&var=L160P	getma.org/pdb.php?prot=JMJD6_HUMAN&from=141&to=305&var=L160P	getma.org/?cm=var&var=hg19,17,74721588,A,G&fts=all	L160P	--	--	1																																		JMJD6_uc002jsn.1_Missense_Mutation_p.L160P|JMJD6_uc010dgz.2_Missense_Mutation_p.L160P|C17orf95_uc002jsp.2_5'Flank|C17orf95_uc002jsq.2_5'Flank|C17orf95_uc002jsr.2_5'Flank|C17orf95_uc002jss.2_5'Flank|C17orf95_uc002jst.2_5'Flank|C17orf95_uc002jsu.2_5'Flank	1,1			probably_damaging(0.998)	p.L160P	NM_015167	NP_055982		deleterious(0)	1,1	JMJD6_HUMAN	JMJD6	HGNC	Q6NYC1	JMJD6_HUMAN					2	803	-			UPI000020034E	160			JmjC.		SNV	JMJD6,missense_variant,p.Leu160Pro,ENST00000445478,NM_001081461.1;JMJD6,missense_variant,p.Leu160Pro,ENST00000397625,NM_015167.2;JMJD6,missense_variant,p.Leu160Pro,ENST00000585429,;METTL23,upstream_gene_variant,,ENST00000588783,NM_001080510.3,NM_001206983.1;METTL23,upstream_gene_variant,,ENST00000341249,NM_001206984.1;METTL23,upstream_gene_variant,,ENST00000586738,;METTL23,upstream_gene_variant,,ENST00000588822,;METTL23,upstream_gene_variant,,ENST00000590964,NM_001206985.1,NM_001206986.1,NM_001206987.1;METTL23,upstream_gene_variant,,ENST00000588302,;METTL23,upstream_gene_variant,,ENST00000586752,;METTL23,upstream_gene_variant,,ENST00000592849,;METTL23,upstream_gene_variant,,ENST00000589977,;METTL23,upstream_gene_variant,,ENST00000591571,;METTL23,upstream_gene_variant,,ENST00000588563,;METTL23,upstream_gene_variant,,ENST00000586200,;JMJD6,missense_variant,p.Leu160Pro,ENST00000542934,;JMJD6,missense_variant,p.Leu160Pro,ENST00000303996,;JMJD6,upstream_gene_variant,,ENST00000591460,;METTL23,upstream_gene_variant,,ENST00000589581,;JMJD6,upstream_gene_variant,,ENST00000589982,;	uc002jso.2	c.479T>C	594/1603	3	3			c.479T>C						17	SNP	c.(478-480)CTT>CCT	64	64			skin(2)|ovary(1)	3	Broad	jumonji domain containing 6 isoform 2			74721588		0.383	ENSG00000070495	7817	g.chr17:74721588A>G	mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding							-36.832065	KEEP	3	0	-1	96	87	3	0	-1	7.489444	96	87	0.017751	1	0	0	0	0	1	0	0	0	--	--		0	G			JMJD6_uc002jsn.1_Missense_Mutation_p.L160P|JMJD6_uc010dgz.2_Missense_Mutation_p.L160P|C17orf95_uc002jsp.2_5'Flank|C17orf95_uc002jsq.2_5'Flank|C17orf95_uc002jsr.2_5'Flank|C17orf95_uc002jss.2_5'Flank|C17orf95_uc002jst.2_5'Flank|C17orf95_uc002jsu.2_5'Flank	153	GBM-15-0742-TP	p.L160P	A	ATACTGGAAAAGGTCATCAGT	NM_015167	NP_055982	74721588	Q6NYC1	JMJD6_HUMAN	0			2	803	-	G	G			Missense_Mutation	160			JmjC.			
JMY	0	broad.mit.edu	GRCh37	5	78612055	78612055	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-19-1390-01	TCGA-19-1390-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396137.4:c.2892T>C	p.Leu964=	p.L964=	ENST00000396137	NM_152405.4	964	ctT/ctC	0			1			C	L	uc003kfx.3	protein_coding	YES	CCDS4047.3			2892/2967										0	c.(2890-2892)CTT>CTC			hmmpanther:PTHR23330,hmmpanther:PTHR23330:SF8	junction-mediating and regulatory protein				ENSP00000379441		11-Oct									COSM3410434,COSM3410433	11-Oct	.		ENST00000396137	Transcript			'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	ENSG00000152409	g.chr5:78612055T>C	28916			LOW								--	--	1																																			1,1	1			p.L964L	NM_152405	NP_689618			1,1	JMY_HUMAN	JMY	HGNC	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)			10	3412	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	UPI0000E5AC67	964					SNV	JMY,synonymous_variant,p.=,ENST00000396137,NM_152405.4;JMY,intron_variant,,ENST00000412001,;	uc003kfx.3	c.2892T>C	3354/9042	3	3			c.2892T>C						5	SNP	c.(2890-2892)CTT>CTC	63	63				0	Broad	junction-mediating and regulatory protein			78612055		0.438	ENSG00000152409	7821	g.chr5:78612055T>C	'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity							101.328929	KEEP	15	15	-1	15	20	15	15	-1	101.328929	15	20	0.5	1	0	0	0	0	0	0	1	0	--	--		0	C				159	GBM-19-1390-TP	p.L964L	T	ATGAAGCTCTTAGAAGAATTA	NM_152405	NP_689618	78612055	Q8N9B5	JMY_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	10	3412	+	C	C		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	Silent	964						
JMY	0	broad.mit.edu	GRCh37	5	78533329	78533329	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-2625-01	TCGA-19-2625-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396137.4:c.856T>C	p.Cys286Arg	p.C286R	ENST00000396137	NM_152405.4	286	Tgt/Cgt	0			1			C	C/R	uc003kfx.3	protein_coding	YES	CCDS4047.3			856/2967										0	c.(856-858)TGT>CGT			hmmpanther:PTHR23330,hmmpanther:PTHR23330:SF8	junction-mediating and regulatory protein				ENSP00000379441		11-Jan									COSM3410432	11-Jan	.		ENST00000396137	Transcript			'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	ENSG00000152409	g.chr5:78533329T>C	28916			MODERATE		2.395	medium	getma.org/?cm=msa&ty=f&p=JMY_HUMAN&rb=1&re=986&var=C286R	NA	getma.org/?cm=var&var=hg19,5,78533329,T,C&fts=all	C286R	--	--	1																																			1	1		probably_damaging(0.966)	p.C286R	NM_152405	NP_689618		deleterious(0)	1	JMY_HUMAN	JMY	HGNC	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)			1	1376	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	UPI0000E5AC67	286					SNV	JMY,missense_variant,p.Cys286Arg,ENST00000396137,NM_152405.4;DMGDH,upstream_gene_variant,,ENST00000520388,;DMGDH,upstream_gene_variant,,ENST00000520855,;DMGDH,upstream_gene_variant,,ENST00000518707,;	uc003kfx.3	c.856T>C	1318/9042	3	3			c.856T>C						5	SNP	c.(856-858)TGT>CGT	50	50				0	Broad	junction-mediating and regulatory protein			78533329		0.632	ENSG00000152409	7821	g.chr5:78533329T>C	'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity							164.52766	KEEP	33	33	-1	85	79	33	33	-1	171.862099	85	79	0.295918	1	0	0	0	0	1	0	0	0	--	--		0	C				165	GBM-19-2625-TP	p.C286R	T	CGACACTCTGTGTTACCAGCT	NM_152405	NP_689618	78533329	Q8N9B5	JMY_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	1	1376	+	C	C		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	Missense_Mutation	286						
JOSD2	0	broad.mit.edu	GRCh37	19	51009714	51009714	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01	TCGA-12-0616-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000598418.1:c.388C>T	p.Arg130Cys	p.R130C	ENST00000598418	NM_001270639.1	130	Cgc/Tgc	0		A:0	1	A:0.0014		A	R/C	uc002psn.1	protein_coding	YES	CCDS12797.1			388/567										0	c.(388-390)CGC>TGC			PROSITE_profiles:PS50957,hmmpanther:PTHR13291,hmmpanther:PTHR13291:SF2,Pfam_domain:PF02099	Josephin domain containing 2		A:0		ENSP00000468956	A:0	5-Apr	3.36E-05			0.0014					rs546200445,COSM3404483	5-Apr	common_variant		ENST00000598418	Transcript		A:0.0002	protein deubiquitination		ubiquitin-specific protease activity	ENSG00000161677	g.chr19:51009714G>A	28853			MODERATE		3.32	medium	getma.org/?cm=msa&ty=f&p=JOS2_HUMAN&rb=18&re=177&var=R130C	getma.org/pdb.php?prot=JOS2_HUMAN&from=18&to=177&var=R130C	getma.org/?cm=var&var=hg19,19,51009714,G,A&fts=all	R130C	--	--	1																																		JOSD2_uc002pso.1_Missense_Mutation_p.R130C|JOSD2_uc002psp.1_Missense_Mutation_p.R130C|JOSD2_uc002psq.1_Missense_Mutation_p.R88C	0,1	1		probably_damaging(0.998)	p.R130C	NM_138334	NP_612207	A:0	deleterious(0)	0,1	JOS2_HUMAN	JOSD2	HGNC	Q8TAC2	JOS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)	Q7Z7N5_HUMAN,M0QZL8_HUMAN		4	419	-		all_neural(266;0.131)	UPI000012DABE	130			Josephin.		SNV	JOSD2,missense_variant,p.Arg130Cys,ENST00000598418,NM_001270639.1,NM_001270640.1;JOSD2,missense_variant,p.Arg130Cys,ENST00000601423,NM_138334.3,NM_001270686.1;JOSD2,missense_variant,p.Arg130Cys,ENST00000391815,;JOSD2,missense_variant,p.Arg88Cys,ENST00000595669,NM_001270641.1;JOSD2,missense_variant,p.Arg130Cys,ENST00000594350,;JOSD2,non_coding_transcript_exon_variant,,ENST00000602146,;JOSD2,downstream_gene_variant,,ENST00000595718,;	uc002psn.1	c.388C>T	642/996	2	2			c.388C>T						19	SNP	c.(388-390)CGC>TGC	43	43				0	Broad	Josephin domain containing 2			51009714		0.701	ENSG00000161677	7823	g.chr19:51009714G>A	protein deubiquitination		ubiquitin-specific protease activity							12.270771	KEEP	5	1	-1	4	5	5	1	-1	12.343853	4	5	0.416667	1	0	0	0	0	1	0	0	0	--	--		0	A			JOSD2_uc002pso.1_Missense_Mutation_p.R130C|JOSD2_uc002psp.1_Missense_Mutation_p.R130C|JOSD2_uc002psq.1_Missense_Mutation_p.R88C	118	GBM-12-0616-TP	p.R130C	G	TCCACCTGGCGCAGGGCCACC	NM_138334	NP_612207	51009714	Q8TAC2	JOS2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)	4	419	-	A	A		all_neural(266;0.131)	Missense_Mutation	130			Josephin.			
JPH1	56704	broad.mit.edu	GRCh37	8	75156952	75156952	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0129-01	TCGA-06-0129-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342232.4:c.1717T>C	p.Ser573Pro	p.S573P	ENST00000342232	NM_020647.2	573	Tcc/Ccc	0			1			G	S/P	uc003yae.2	protein_coding	YES	CCDS6217.1			1717/1986									ovary(1)	1	c.(1717-1719)TCC>CCC			hmmpanther:PTHR23085:SF6,hmmpanther:PTHR23085,PIRSF_domain:PIRSF037387	junctophilin 1				ENSP00000344488		6-Apr									COSM3748392	6-Apr	.		ENST00000342232	Transcript			calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		ENSG00000104369	g.chr8:75156952A>G	14201			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=JPH1_HUMAN&rb=527&re=661&var=S573P	NA	getma.org/?cm=var&var=hg19,8,75156952,A,G&fts=all	S573P	--	--	1																																		JPH1_uc003yaf.2_Missense_Mutation_p.S573P|JPH1_uc003yag.1_Missense_Mutation_p.S437P	1	1		benign(0.001)	p.S573P	NM_020647	NP_065698		tolerated(0.37)	1	JPH1_HUMAN	JPH1	HGNC	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		Q7Z682_HUMAN,Q6AHW6_HUMAN,Q4KMX3_HUMAN		4	1757	-	Breast(64;0.00576)		UPI000012DAC0	573			Cytoplasmic (Potential).		SNV	JPH1,missense_variant,p.Ser573Pro,ENST00000342232,NM_020647.2;JPH1,non_coding_transcript_exon_variant,,ENST00000518195,;JPH1,3_prime_UTR_variant,,ENST00000519947,;	uc003yae.2	c.1717T>C	1758/4378	3	3			c.1717T>C						8	SNP	c.(1717-1719)TCC>CCC	2	2			ovary(1)	1	Broad	junctophilin 1			75156952		0.552	ENSG00000104369	7824	g.chr8:75156952A>G	calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane								-45.463167	KEEP	5	12	-1	129	86	5	12	-1	8.238684	129	86	0.019324	1	0	0	0	0	1	0	0	0	--	--		0	G			JPH1_uc003yaf.2_Missense_Mutation_p.S573P|JPH1_uc003yag.1_Missense_Mutation_p.S437P	15	GBM-06-0129-TP	p.S573P	A	GACTGGCTGGATCCATCGCCG	NM_020647	NP_065698	75156952	Q9HDC5	JPH1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		4	1757	-	G	G	Breast(64;0.00576)		Missense_Mutation	573			Cytoplasmic (Potential).			
JPH1	56704	broad.mit.edu	GRCh37	8	75171694	75171694	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01	TCGA-06-0174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342232.4:c.1184C>T	p.Ala395Val	p.A395V	ENST00000342232	NM_020647.2	395	gCg/gTg	0			1			A	A/V	uc003yae.2	protein_coding	YES	CCDS6217.1			1184/1986									ovary(1)	1	c.(1183-1185)GCG>GTG			Low_complexity_(Seg):seg,hmmpanther:PTHR23085:SF6,hmmpanther:PTHR23085,PIRSF_domain:PIRSF037387	junctophilin 1				ENSP00000344488		6-Mar	8.24E-06			0.00012					rs748452859,COSM3413113	6-Mar	.		ENST00000342232	Transcript			calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		ENSG00000104369	g.chr8:75171694G>A	14201			MODERATE		2.685	medium	getma.org/?cm=msa&ty=f&p=JPH1_HUMAN&rb=327&re=526&var=A395V	NA	getma.org/?cm=var&var=hg19,8,75171694,G,A&fts=all	A395V	--	--	1																																		JPH1_uc003yaf.2_Missense_Mutation_p.A395V|JPH1_uc003yag.1_Missense_Mutation_p.A259V	0,1	1		probably_damaging(0.949)	p.A395V	NM_020647	NP_065698		deleterious(0.01)	0,1	JPH1_HUMAN	JPH1	HGNC	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		Q7Z682_HUMAN,Q6AHW6_HUMAN,Q4KMX3_HUMAN		3	1224	-	Breast(64;0.00576)		UPI000012DAC0	395			Ala-rich.|Cytoplasmic (Potential).		SNV	JPH1,missense_variant,p.Ala395Val,ENST00000342232,NM_020647.2;JPH1,3_prime_UTR_variant,,ENST00000519947,;	uc003yae.2	c.1184C>T	1225/4378	1	1			c.1184C>T						8	SNP	c.(1183-1185)GCG>GTG	51	51			ovary(1)	1	Broad	junctophilin 1			75171694		0.597	ENSG00000104369	7824	g.chr8:75171694G>A	calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane								73.60083	KEEP	16	11	-1	12	10	16	11	-1	73.680946	12	10	0.543478	1	0	0	0	0	1	0	0	0	--	--		0	A			JPH1_uc003yaf.2_Missense_Mutation_p.A395V|JPH1_uc003yag.1_Missense_Mutation_p.A259V	37	GBM-06-0174-TP	p.A395V	G	AGCGGCCAGCGCGGCCTGGTC	NM_020647	NP_065698	75171694	Q9HDC5	JPH1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		3	1224	-	A	A	Breast(64;0.00576)		Missense_Mutation	395			Ala-rich.|Cytoplasmic (Potential).			
JPH1	56704	broad.mit.edu	GRCh37	8	75171693	75171693	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5408-01	TCGA-06-5408-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342232.4:c.1185G>A	p.Ala395=	p.A395=	ENST00000342232	NM_020647.2	395	gcG/gcA	0	T:0	T:0	1	T:0		T	A	uc003yae.2	protein_coding	YES	CCDS6217.1			1185/1986									ovary(1)	1	c.(1183-1185)GCG>GCA			Low_complexity_(Seg):seg,hmmpanther:PTHR23085:SF6,hmmpanther:PTHR23085,PIRSF_domain:PIRSF037387	junctophilin 1		T:0	T:0.0001	ENSP00000344488	T:0	6-Mar	0.00222		0.000268			4.68E-05	0.00458	0.0161	rs199614841,COSM3748393	6-Mar	common_variant		ENST00000342232	Transcript		T:0.0038	calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		ENSG00000104369	g.chr8:75171693C>T	14201			LOW								--	--	1																																		JPH1_uc003yaf.2_Silent_p.A395A|JPH1_uc003yag.1_Silent_p.A259A	0,1	1			p.A395A	NM_020647	NP_065698	T:0.0194		0,1	JPH1_HUMAN	JPH1	HGNC	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		Q7Z682_HUMAN,Q6AHW6_HUMAN,Q4KMX3_HUMAN		3	1225	-	Breast(64;0.00576)		UPI000012DAC0	395			Ala-rich.|Cytoplasmic (Potential).		SNV	JPH1,synonymous_variant,p.=,ENST00000342232,NM_020647.2;JPH1,3_prime_UTR_variant,,ENST00000519947,;	uc003yae.2	c.1185G>A	1226/4378	1	1			c.1185G>A						8	SNP	c.(1183-1185)GCG>GCA	4	4			ovary(1)	1	Broad	junctophilin 1			75171693		0.592	ENSG00000104369	7824	g.chr8:75171693C>T	calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane								51.578991	KEEP	13	5	-1	11	9	13	5	-1	51.584879	11	9	0.485714	1	0	0	0	0	0	0	1	0	--	--		0	T			JPH1_uc003yaf.2_Silent_p.A395A|JPH1_uc003yag.1_Silent_p.A259A	92	GBM-06-5408-TP	p.A395A	C	GAGCGGCCAGCGCGGCCTGGT	NM_020647	NP_065698	75171693	Q9HDC5	JPH1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		3	1225	-	T	T	Breast(64;0.00576)		Silent	395			Ala-rich.|Cytoplasmic (Potential).			
JPH1	0	broad.mit.edu	GRCh37	8	75171695	75171695	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2518-01	TCGA-27-2518-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342232.4:c.1183G>A	p.Ala395Thr	p.A395T	ENST00000342232	NM_020647.2	395	Gcg/Acg	0			1			T	A/T	uc003yae.2	protein_coding	YES	CCDS6217.1			1183/1986									ovary(1)	1	c.(1183-1185)GCG>ACG			Low_complexity_(Seg):seg,hmmpanther:PTHR23085:SF6,hmmpanther:PTHR23085,PIRSF_domain:PIRSF037387	junctophilin 1				ENSP00000344488		6-Mar	1.65E-05					1.59E-05		6.32E-05	rs777573780,COSM252556	6-Mar	.		ENST00000342232	Transcript			calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		ENSG00000104369	g.chr8:75171695C>T	14201			MODERATE		2.685	medium	getma.org/?cm=msa&ty=f&p=JPH1_HUMAN&rb=327&re=526&var=A395T	NA	getma.org/?cm=var&var=hg19,8,75171695,C,T&fts=all	A395T	--	--	1																																		JPH1_uc003yaf.2_Missense_Mutation_p.A395T|JPH1_uc003yag.1_Missense_Mutation_p.A259T	0,1	1		possibly_damaging(0.905)	p.A395T	NM_020647	NP_065698		deleterious(0)	0,1	JPH1_HUMAN	JPH1	HGNC	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		Q7Z682_HUMAN,Q6AHW6_HUMAN,Q4KMX3_HUMAN		3	1223	-	Breast(64;0.00576)		UPI000012DAC0	395			Ala-rich.|Cytoplasmic (Potential).		SNV	JPH1,missense_variant,p.Ala395Thr,ENST00000342232,NM_020647.2;JPH1,3_prime_UTR_variant,,ENST00000519947,;	uc003yae.2	c.1183G>A	1224/4378	2	2			c.1183G>A						8	SNP	c.(1183-1185)GCG>ACG	45	45			ovary(1)	1	Broad	junctophilin 1			75171695		0.597	ENSG00000104369	7824	g.chr8:75171695C>T	calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane								67.417983	KEEP	12	11	-1	18	20	12	11	-1	67.880536	18	20	0.403509	1	0	0	0	0	1	0	0	0	--	--		0	T			JPH1_uc003yaf.2_Missense_Mutation_p.A395T|JPH1_uc003yag.1_Missense_Mutation_p.A259T	198	GBM-27-2518-TP	p.A395T	C	GCGGCCAGCGCGGCCTGGTCG	NM_020647	NP_065698	75171695	Q9HDC5	JPH1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		3	1223	-	T	T	Breast(64;0.00576)		Missense_Mutation	395			Ala-rich.|Cytoplasmic (Potential).			
JPH1	0	broad.mit.edu	GRCh37	8	75171695	75171695	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01	TCGA-32-1982-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342232.4:c.1183G>A	p.Ala395Thr	p.A395T	ENST00000342232	NM_020647.2	395	Gcg/Acg	0			1			T	A/T	uc003yae.2	protein_coding	YES	CCDS6217.1			1183/1986									ovary(1)	1	c.(1183-1185)GCG>ACG			Low_complexity_(Seg):seg,hmmpanther:PTHR23085:SF6,hmmpanther:PTHR23085,PIRSF_domain:PIRSF037387	junctophilin 1				ENSP00000344488		6-Mar	1.65E-05					1.59E-05		6.32E-05	rs777573780,COSM252556	6-Mar	.		ENST00000342232	Transcript			calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		ENSG00000104369	g.chr8:75171695C>T	14201			MODERATE		2.685	medium	getma.org/?cm=msa&ty=f&p=JPH1_HUMAN&rb=327&re=526&var=A395T	NA	getma.org/?cm=var&var=hg19,8,75171695,C,T&fts=all	A395T	--	--	1																																		JPH1_uc003yaf.2_Missense_Mutation_p.A395T|JPH1_uc003yag.1_Missense_Mutation_p.A259T	0,1	1		possibly_damaging(0.905)	p.A395T	NM_020647	NP_065698		deleterious(0)	0,1	JPH1_HUMAN	JPH1	HGNC	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		Q7Z682_HUMAN,Q6AHW6_HUMAN,Q4KMX3_HUMAN		3	1223	-	Breast(64;0.00576)		UPI000012DAC0	395			Ala-rich.|Cytoplasmic (Potential).		SNV	JPH1,missense_variant,p.Ala395Thr,ENST00000342232,NM_020647.2;JPH1,3_prime_UTR_variant,,ENST00000519947,;	uc003yae.2	c.1183G>A	1224/4378	2	2			c.1183G>A						8	SNP	c.(1183-1185)GCG>ACG	45	45			ovary(1)	1	Broad	junctophilin 1			75171695		0.597	ENSG00000104369	7824	g.chr8:75171695C>T	calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane								46.656862	KEEP	13	4	-1	18	21	13	4	-1	48.038671	18	21	0.326923	1	0	0	0	0	1	0	0	0	--	--		0	T			JPH1_uc003yaf.2_Missense_Mutation_p.A395T|JPH1_uc003yag.1_Missense_Mutation_p.A259T	232	GBM-32-1982-TP	p.A395T	C	GCGGCCAGCGCGGCCTGGTCG	NM_020647	NP_065698	75171695	Q9HDC5	JPH1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		3	1223	-	T	T	Breast(64;0.00576)		Missense_Mutation	395			Ala-rich.|Cytoplasmic (Potential).			
JPH1	0	broad.mit.edu	GRCh37	8	75227467	75227467	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2632-01	TCGA-32-2632-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342232.4:c.768G>A	p.Thr256=	p.T256=	ENST00000342232	NM_020647.2	256	acG/acA	0			1			T	T	uc003yae.2	protein_coding	YES	CCDS6217.1			768/1986									ovary(1)	1	c.(766-768)ACG>ACA			hmmpanther:PTHR23085:SF6,hmmpanther:PTHR23085,PIRSF_domain:PIRSF037387	junctophilin 1				ENSP00000344488		6-Feb									COSM3413114	6-Feb	.		ENST00000342232	Transcript			calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		ENSG00000104369	g.chr8:75227467C>T	14201			LOW								--	--	1																																		JPH1_uc003yaf.2_Silent_p.T256T|JPH1_uc003yag.1_Silent_p.T120T	1	1			p.T256T	NM_020647	NP_065698			1	JPH1_HUMAN	JPH1	HGNC	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		Q7Z682_HUMAN,Q6AHW6_HUMAN,Q4KMX3_HUMAN		2	808	-	Breast(64;0.00576)		UPI000012DAC0	256			Cytoplasmic (Potential).|Ser-rich.		SNV	JPH1,synonymous_variant,p.=,ENST00000342232,NM_020647.2;JPH1,3_prime_UTR_variant,,ENST00000519947,;	uc003yae.2	c.768G>A	809/4378	1	1			c.768G>A						8	SNP	c.(766-768)ACG>ACA	1	1			ovary(1)	1	Broad	junctophilin 1			75227467		0.557	ENSG00000104369	7824	g.chr8:75227467C>T	calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane								167.898618	KEEP	30	26	-1	44	45	30	26	-1	169.476214	44	45	0.387324	1	0	0	0	0	0	0	1	0	--	--		0	T			JPH1_uc003yaf.2_Silent_p.T256T|JPH1_uc003yag.1_Silent_p.T120T	240	GBM-32-2632-TP	p.T256T	C	CAAAGCTGATCGTGGAGTTGG	NM_020647	NP_065698	75227467	Q9HDC5	JPH1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		2	808	-	T	T	Breast(64;0.00576)		Silent	256			Cytoplasmic (Potential).|Ser-rich.			
JPH2	0	broad.mit.edu	GRCh37	20	42788558	42788558	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-12-5301-01	TCGA-12-5301-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372980.3:c.869C>G	p.Thr290Ser	p.T290S	ENST00000372980	NM_020433.4	290	aCc/aGc	0			1			C	T/S	uc002xli.1	protein_coding	YES	CCDS13325.1			869/2091										0	c.(868-870)ACC>AGC			Superfamily_domains:0038399,Gene3D:1h3iA01,PIRSF_domain:PIRSF037387,hmmpanther:PTHR23085,hmmpanther:PTHR23085:SF5,SMART_domains:SM00698	junctophilin 2 isoform 1				ENSP00000362071		6-Feb									COSM3405103	6-Feb	.		ENST00000372980	Transcript	1		calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		ENSG00000149596	g.chr20:42788558G>C	14202			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=JPH2_HUMAN&rb=152&re=290&var=T290S	NA	getma.org/?cm=var&var=hg19,20,42788558,G,C&fts=all	T290S	--	--	1																																			1	1		benign(0.001)	p.T290S	NM_020433	NP_065166		tolerated(0.47)	1	JPH2_HUMAN	JPH2	HGNC	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		Q86VZ3_HUMAN,B4E3T9_HUMAN		2	1742	-		Myeloproliferative disorder(115;0.0122)	UPI000012DAC2	290			Cytoplasmic (Potential).		SNV	JPH2,missense_variant,p.Thr290Ser,ENST00000372980,NM_020433.4;	uc002xli.1	c.869C>G	1742/4787	3	3			c.869C>G						20	SNP	c.(868-870)ACC>AGC	53	53				0	Broad	junctophilin 2 isoform 1			42788558		0.701	ENSG00000149596	7825	g.chr20:42788558G>C	calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane								67.30686	KEEP	11	10	-1	9	15	11	10	-1	67.30686	9	15	0.5	1	0	0	0	0	1	0	0	0	--	--		0	C				131	GBM-12-5301-TP	p.T290S	G	GCCCATGTAGGTCTCGGTGGT	NM_020433	NP_065166	42788558	Q9BR39	JPH2_HUMAN	0	COAD - Colon adenocarcinoma(18;0.00189)		2	1742	-	C	C		Myeloproliferative disorder(115;0.0122)	Missense_Mutation	290			Cytoplasmic (Potential).			
JPH2	0	broad.mit.edu	GRCh37	20	42788430	42788430	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01	TCGA-27-1830-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372980.3:c.997G>A	p.Asp333Asn	p.D333N	ENST00000372980	NM_020433.4	333	Gac/Aac	0			1			T	D/N	uc002xli.1	protein_coding	YES	CCDS13325.1			997/2091										0	c.(997-999)GAC>AAC			Superfamily_domains:0038399,Gene3D:1h3iA01,Pfam_domain:PF02493,PIRSF_domain:PIRSF037387,hmmpanther:PTHR23085,hmmpanther:PTHR23085:SF5,SMART_domains:SM00698	junctophilin 2 isoform 1				ENSP00000362071		6-Feb	8.24E-06					1.55E-05			rs750791531,COSM3292619	6-Feb	.		ENST00000372980	Transcript	1		calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		ENSG00000149596	g.chr20:42788430C>T	14202			MODERATE		1.455	low	getma.org/?cm=msa&ty=f&p=JPH2_HUMAN&rb=294&re=356&var=D333N	NA	getma.org/?cm=var&var=hg19,20,42788430,C,T&fts=all	D333N	--	--	1																																			0,1	1		probably_damaging(0.967)	p.D333N	NM_020433	NP_065166		deleterious(0.02)	0,1	JPH2_HUMAN	JPH2	HGNC	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		Q86VZ3_HUMAN,B4E3T9_HUMAN		2	1870	-		Myeloproliferative disorder(115;0.0122)	UPI000012DAC2	333			MORN 8.|Cytoplasmic (Potential).		SNV	JPH2,missense_variant,p.Asp333Asn,ENST00000372980,NM_020433.4;	uc002xli.1	c.997G>A	1870/4787	1	1			c.997G>A						20	SNP	c.(997-999)GAC>AAC	6	6				0	Broad	junctophilin 2 isoform 1			42788430		0.662	ENSG00000149596	7825	g.chr20:42788430C>T	calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane								14.540137	KEEP	4	5	-1	16	11	4	5	-1	15.902629	16	11	0.25	1	0	0	0	0	1	0	0	0	--	--		0	T				189	GBM-27-1830-TP	p.D333N	C	CGGTGGCCGTCGGGCAGCGTG	NM_020433	NP_065166	42788430	Q9BR39	JPH2_HUMAN	0	COAD - Colon adenocarcinoma(18;0.00189)		2	1870	-	T	T		Myeloproliferative disorder(115;0.0122)	Missense_Mutation	333			MORN 8.|Cytoplasmic (Potential).			
JPH2	0	broad.mit.edu	GRCh37	20	42788505	42788505	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372980.3:c.922C>T	p.Arg308Cys	p.R308C	ENST00000372980	NM_020433.4	308	Cgc/Tgc	0			1			A	R/C	uc002xli.1	protein_coding	YES	CCDS13325.1			922/2091										0	c.(922-924)CGC>TGC			Superfamily_domains:0038399,Gene3D:1h3iA01,Pfam_domain:PF02493,PIRSF_domain:PIRSF037387,hmmpanther:PTHR23085,hmmpanther:PTHR23085:SF5,SMART_domains:SM00698	junctophilin 2 isoform 1				ENSP00000362071		6-Feb	8.24E-06							6.25E-05	rs773609773,COSM3405102	6-Feb	.		ENST00000372980	Transcript	1		calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		ENSG00000149596	g.chr20:42788505G>A	14202			MODERATE		1.395	low	getma.org/?cm=msa&ty=f&p=JPH2_HUMAN&rb=271&re=333&var=R308C	NA	getma.org/?cm=var&var=hg19,20,42788505,G,A&fts=all	R308C	--	--	1																																			0,1	1		probably_damaging(1)	p.R308C	NM_020433	NP_065166		deleterious(0)	0,1	JPH2_HUMAN	JPH2	HGNC	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		Q86VZ3_HUMAN,B4E3T9_HUMAN		2	1795	-		Myeloproliferative disorder(115;0.0122)	UPI000012DAC2	308			MORN 7.|Cytoplasmic (Potential).		SNV	JPH2,missense_variant,p.Arg308Cys,ENST00000372980,NM_020433.4;	uc002xli.1	c.922C>T	1795/4787	2	2			c.922C>T						20	SNP	c.(922-924)CGC>TGC	43	43				0	Broad	junctophilin 2 isoform 1			42788505		0.672	ENSG00000149596	7825	g.chr20:42788505G>A	calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane								12.151352	KEEP	2	9	-1	20	16	2	9	-1	13.869612	20	16	0.230769	1	0	0	0	0	1	0	0	0	--	--		0	A				232	GBM-32-1982-TP	p.R308C	G	CCACTGGAGCGTTCGCTCACG	NM_020433	NP_065166	42788505	Q9BR39	JPH2_HUMAN	0	COAD - Colon adenocarcinoma(18;0.00189)		2	1795	-	A	A		Myeloproliferative disorder(115;0.0122)	Missense_Mutation	308			MORN 7.|Cytoplasmic (Potential).			
JPH4	84502		GRCh37	14	24040215	24040215	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000397118.3:c.1725G>A	p.Ser575=	p.S575=	ENST00000397118	NM_032452.2	575	tcG/tcA	0																																																																																																																																																																																																																																												
JUN	3725		GRCh37	1	59248392	59248392	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000371222.2:c.351C>T	p.Ala117=	p.A117=	ENST00000371222	NM_002228.3	117	gcC/gcT	0																																																																																																																																																																																																																																												
JUP	0	broad.mit.edu	GRCh37	17	39919367	39919367	+	synonymous_variant	Silent	SNP	G	G	A	rs77375949	by1000genomes	TCGA-12-3650-01	TCGA-12-3650-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310706.5:c.1365C>T	p.Ala455=	p.A455=	ENST00000310706	NM_021991.2	455	gcC/gcT	0	A:0.0002	A:0.0015	1	A:0		A	A	uc002hxq.2	protein_coding		CCDS11407.1			1365/2238						likely_benign			ovary(2)|lung(2)|breast(1)	5	c.(1363-1365)GCC>GCT			Gene3D:1.25.10.10,Prints_domain:PR01869,PROSITE_profiles:PS50176,hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF12,SMART_domains:SM00185,Superfamily_domains:SSF48371	junction plakoglobin		A:0.003	A:0	ENSP00000311113	A:0.001	15-Aug	0.000437	0.000288		0.00451		0.00015		6.06E-05	rs77375949,COSM3402895	15-Aug	common_variant		ENST00000310706	Transcript	1	A:0.0012	adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	ENSG00000173801	g.chr17:39919367G>A	6207			LOW								--	--	1																																		JUP_uc010wfs.1_Intron|JUP_uc002hxr.2_Silent_p.A455A|JUP_uc002hxs.2_Silent_p.A455A	1,1				p.A455A	NM_021991	NP_068831	A:0		0,1	PLAK_HUMAN	JUP	HGNC	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	Q7KZ86_HUMAN,K7ERP3_HUMAN,C9JTX4_HUMAN,C9JPI2_HUMAN,C9JKY1_HUMAN,C9JK18_HUMAN,C9J826_HUMAN		8	1642	-		Breast(137;0.000162)	UPI0000073ED4	455			ARM 6.		SNV	JUP,synonymous_variant,p.=,ENST00000393931,NM_002230.2;JUP,synonymous_variant,p.=,ENST00000393930,;JUP,synonymous_variant,p.=,ENST00000310706,NM_021991.2;JUP,intron_variant,,ENST00000540235,;JUP,downstream_gene_variant,,ENST00000449889,;JUP,downstream_gene_variant,,ENST00000437187,;JUP,downstream_gene_variant,,ENST00000420370,;JUP,upstream_gene_variant,,ENST00000585793,;	uc002hxq.2	c.1365C>T	1484/3200	2	2			c.1365C>T						17	SNP	c.(1363-1365)GCC>GCT	33	33			ovary(2)|lung(2)|breast(1)	5	Broad	junction plakoglobin			39919367		0.607	ENSG00000173801	7836	g.chr17:39919367G>A	adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	Colon(16;42 520 6044 17852 28530)			Colon(16;42 520 6044 17852 28530)			124.881639	KEEP	17	23	-1	24	26	17	23	-1	125.04713	24	26	0.453488	1	0	0	0	0	0	0	1	0	--	--		0	A			JUP_uc010wfs.1_Intron|JUP_uc002hxr.2_Silent_p.A455A|JUP_uc002hxs.2_Silent_p.A455A	126	GBM-12-3650-TP	p.A455A	G	GAGCGCAGACGGCAGGCTCCG	NM_021991	NP_068831	39919367	P14923	PLAK_HUMAN	0	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	8	1642	-	A	A		Breast(137;0.000162)	Silent	455			ARM 6.			
KAL1			GRCh37	X	8555862	8555862	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000262648.3:c.699C>T	p.Asp233=	p.D233=	ENST00000262648	NM_000216.2	233	gaC/gaT	0																																																																																																																																																																																																																																												
KALRN	0	broad.mit.edu	GRCh37	3	124053259	124053259	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs147539685		TCGA-12-0692-01	TCGA-12-0692-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000240874.3:c.1558C>T	p.Arg520Trp	p.R520W	ENST00000240874	NM_003947.4	520	Cgg/Tgg	0	A:0		1			T	R/W	uc003ehg.2	protein_coding	YES	CCDS3027.1			1558/4992									large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6	c.(1558-1560)CGG>TGG			hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF49,SMART_domains:SM00150,Superfamily_domains:SSF46966	kalirin, RhoGEF kinase isoform 1			A:0.0005	ENSP00000240874		Sep-34	1.65E-05		8.66E-05			1.51E-05			rs147539685,COSM2154299,COSM2154300	Sep-34	.		ENST00000240874	Transcript	1		apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	ENSG00000160145	g.chr3:124053259C>T	4814			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=KALRN_HUMAN&rb=417&re=535&var=R520W	NA	getma.org/?cm=var&var=hg19,3,124053259,C,T&fts=all	R520W	--	--	1																																		KALRN_uc010hrv.1_Missense_Mutation_p.R520W|KALRN_uc003ehf.1_Missense_Mutation_p.R520W|KALRN_uc011bjy.1_Missense_Mutation_p.R520W	0,1,1	1		unknown(0)	p.R520W	NM_001024660	NP_001019831		deleterious(0)	0,1,1	KALRN_HUMAN	KALRN	HGNC	O60229	KALRN_HUMAN					9	1685	+			UPI000012C095	520					SNV	KALRN,missense_variant,p.Arg520Trp,ENST00000360013,NM_001024660.3;KALRN,missense_variant,p.Arg498Trp,ENST00000354186,;KALRN,missense_variant,p.Arg520Trp,ENST00000240874,NM_003947.4;KALRN,missense_variant,p.Arg520Trp,ENST00000460856,;KALRN,upstream_gene_variant,,ENST00000439170,;	uc003ehg.2	c.1558C>T	1715/6537	1	1			c.1558C>T						3	SNP	c.(1558-1560)CGG>TGG	1	1			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6	Broad	kalirin, RhoGEF kinase isoform 1			124053259		0.622	ENSG00000160145	7839	g.chr3:124053259C>T	apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			1865			1865	220.006048	KEEP	30	56	-1	52	60	30	56	-1	220.990735	52	60	0.418605	1	0	0	0	0	1	0	0	0	--	--		0	T			KALRN_uc010hrv.1_Missense_Mutation_p.R520W|KALRN_uc003ehf.1_Missense_Mutation_p.R520W|KALRN_uc011bjy.1_Missense_Mutation_p.R520W	122	GBM-12-0692-TP	p.R520W	C	TCACCAGCGACGGCTGGAGAG	NM_001024660	NP_001019831	124053259	O60229	KALRN_HUMAN	0			9	1685	+	T	T			Missense_Mutation	520						
KANK1	23189	broad.mit.edu	GRCh37	9	730069	730069	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0875-01	TCGA-06-0875-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382303.1:c.2717C>G	p.Thr906Ser	p.T906S	ENST00000382303	NM_001256876.1	906	aCc/aGc	0			1			G	T/S	uc003zgl.1	protein_coding		CCDS34976.1			2717/4059									ovary(2)|central_nervous_system(1)|pancreas(1)	4	c.(2716-2718)ACC>AGC			hmmpanther:PTHR24168,hmmpanther:PTHR24168:SF19	KN motif and ankyrin repeat domains 1 isoform a				ENSP00000371734		12-Apr									COSM2152045,COSM2152046,COSM2152044	12-Apr	.		ENST00000382297	Transcript	1		negative regulation of actin filament polymerization	cytoplasm		ENSG00000107104	g.chr9:730069C>G	19309			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=KANK1_HUMAN&rb=301&re=972&var=T906S	NA	getma.org/?cm=var&var=hg19,9,730069,C,G&fts=all	T906S	--	--	1																																		KANK1_uc003zgm.2_Missense_Mutation_p.T906S|KANK1_uc003zgn.1_Missense_Mutation_p.T906S|KANK1_uc003zgs.1_Missense_Mutation_p.T748S|KANK1_uc010mgx.1_5'Flank|KANK1_uc010mgy.1_5'Flank	1,1,1			benign(0.004)	p.T906S	NM_015158	NP_055973		tolerated(0.42)	1,1,1	KANK1_HUMAN	KANK1	HGNC	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	Q8WUM7_HUMAN,Q53U93_HUMAN		8	3366	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	UPI00001AF26E	906					SNV	KANK1,missense_variant,p.Thr906Ser,ENST00000382303,NM_001256876.1;KANK1,missense_variant,p.Thr748Ser,ENST00000382293,NM_153186.4;KANK1,missense_variant,p.Thr906Ser,ENST00000382297,NM_001256877.1,NM_015158.3;KANK1,upstream_gene_variant,,ENST00000382286,;KANK1,upstream_gene_variant,,ENST00000382289,;KANK1,non_coding_transcript_exon_variant,,ENST00000489369,;KANK1,non_coding_transcript_exon_variant,,ENST00000354485,;	uc003zgl.1	c.2717C>G	2839/5051	4	4			c.2717C>G						9	SNP	c.(2716-2718)ACC>AGC	22	22			ovary(2)|central_nervous_system(1)|pancreas(1)	4	Broad	KN motif and ankyrin repeat domains 1 isoform a			730069		0.473	ENSG00000107104	7840	g.chr9:730069C>G	negative regulation of actin filament polymerization	cytoplasm								33.437597	KEEP	4	6	-1	13	14	4	6	-1	34.726632	13	14	0.294118	1	0	0	0	0	1	0	0	0	--	--		0	G			KANK1_uc003zgm.2_Missense_Mutation_p.T906S|KANK1_uc003zgn.1_Missense_Mutation_p.T906S|KANK1_uc003zgs.1_Missense_Mutation_p.T748S|KANK1_uc010mgx.1_5'Flank|KANK1_uc010mgy.1_5'Flank	71	GBM-06-0875-TP	p.T906S	C	TTGGGATATACCTGTAAGTGT	NM_015158	NP_055973	730069	Q14678	KANK1_HUMAN	0		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	8	3366	+	G	G		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	Missense_Mutation	906						
KANK3	256949		GRCh37	19	8389585	8389585	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000330915.3:c.2212G>A	p.Glu738Lys	p.E738K	ENST00000330915	NM_198471.2	738	Gag/Aag	0																																																																																																																																																																																																																																												
KANK4	0	broad.mit.edu	GRCh37	1	62740564	62740564	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371153.4:c.212G>A	p.Arg71Gln	p.R71Q	ENST00000371153	NM_181712.4	71	cGa/cAa	0	T:0		1			T	R/Q	uc001dah.3	protein_coding	YES	CCDS620.1			212/2988									ovary(3)|skin(2)|lung(1)	6	c.(211-213)CGA>CAA			hmmpanther:PTHR24168,hmmpanther:PTHR24168:SF20	ankyrin repeat domain 38			T:0.0001	ENSP00000360195		10-Mar	8.24E-06					1.50E-05			rs376267940,COSM228263	10-Mar	.		ENST00000371153	Transcript						ENSG00000132854	g.chr1:62740564C>T	27263			MODERATE		2.1	medium	getma.org/?cm=msa&ty=f&p=KANK4_HUMAN&rb=33&re=109&var=R71Q	NA	getma.org/?cm=var&var=hg19,1,62740564,C,T&fts=all	R71Q	--	--	1																																		KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	0,1	1		possibly_damaging(0.9)	p.R71Q	NM_181712	NP_859063		deleterious(0)	0,1	KANK4_HUMAN	KANK4	HGNC	Q5T7N3	KANK4_HUMAN			B1ALP6_HUMAN,B1ALP5_HUMAN		3	589	-			UPI000022AE73	71					SNV	KANK4,missense_variant,p.Arg71Gln,ENST00000371153,NM_181712.4;KANK4,intron_variant,,ENST00000354381,;KANK4,upstream_gene_variant,,ENST00000371150,;	uc001dah.3	c.212G>A	591/4665	2	2			c.212G>A						1	SNP	c.(211-213)CGA>CAA	34	34			ovary(3)|skin(2)|lung(1)	6	Broad	ankyrin repeat domain 38			62740564		0.557	ENSG00000132854	7843	g.chr1:62740564C>T										-54.191397	KEEP	2	4	-1	163	130	2	4	-1	8.321482	163	130	0.020576	1	0	0	0	0	1	0	0	0	--	--		0	T			KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	139	GBM-14-0817-TP	p.R71Q	C	GCTGAAGTTTCGGGGCAGAGT	NM_181712	NP_859063	62740564	Q5T7N3	KANK4_HUMAN	0			3	589	-	T	T			Missense_Mutation	71						
KARS	3735	broad.mit.edu	GRCh37	16	75670442	75670442	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0130-01	TCGA-06-0130-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319410.5:c.476G>C	p.Arg159Thr	p.R159T	ENST00000319410	NM_001130089.1	159	aGg/aCg	0			1			G	R/T	uc002feq.2	protein_coding		CCDS10923.1			392/1794									ovary(2)	2	c.(391-393)AGG>ACG			HAMAP:MF_00252,hmmpanther:PTHR22594:SF4,hmmpanther:PTHR22594,Gene3D:2.40.50.140,TIGRFAM_domain:TIGR00499,Pfam_domain:PF01336,Superfamily_domains:SSF50249	lysyl-tRNA synthetase isoform 2	L-Lysine(DB00123)			ENSP00000303043		14-Apr									COSM2149547,COSM2149546	14-Apr	.		ENST00000302445	Transcript	1		interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding	ENSG00000065427	g.chr16:75670442C>G	6215			MODERATE		4.94	high	getma.org/?cm=msa&ty=f&p=SYK_HUMAN&rb=126&re=206&var=R131T	getma.org/pdb.php?prot=SYK_HUMAN&from=126&to=206&var=R131T	getma.org/?cm=var&var=hg19,16,75670442,C,G&fts=all	R131T	--	--	1																																		KARS_uc002fer.2_Missense_Mutation_p.R159T|KARS_uc002fes.2_5'UTR|KARS_uc010cgz.2_5'UTR	1,1			probably_damaging(0.99)	p.R131T	NM_005548	NP_005539		deleterious(0)	1,1	SYK_HUMAN	KARS	HGNC	Q15046	SYK_HUMAN			J3KRL2_HUMAN		4	440	-			UPI000004062F	131					SNV	KARS,missense_variant,p.Arg159Thr,ENST00000319410,NM_001130089.1;KARS,missense_variant,p.Arg131Thr,ENST00000302445,NM_005548.2;KARS,missense_variant,p.Arg159Thr,ENST00000570215,;KARS,5_prime_UTR_variant,,ENST00000568682,;KARS,intron_variant,,ENST00000568378,;KARS,upstream_gene_variant,,ENST00000566772,;KARS,missense_variant,p.Gly104Arg,ENST00000564578,;KARS,missense_variant,p.Gly66Arg,ENST00000566249,;KARS,non_coding_transcript_exon_variant,,ENST00000566560,;KARS,intron_variant,,ENST00000562875,;KARS,downstream_gene_variant,,ENST00000565738,;	uc002feq.2	c.392G>C	432/2005	3	3			c.392G>C						16	SNP	c.(391-393)AGG>ACG	16	16			ovary(2)	2	Broad	lysyl-tRNA synthetase isoform 2		L-Lysine(DB00123)	75670442		0.403	ENSG00000065427	7844	g.chr16:75670442C>G	interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding							139.093982	KEEP	28	24	-1	73	93	28	24	-1	152.535333	73	93	0.23301	1	0	0	0	0	1	0	0	0	--	--		0	G			KARS_uc002fer.2_Missense_Mutation_p.R159T|KARS_uc002fes.2_5'UTR|KARS_uc010cgz.2_5'UTR	16	GBM-06-0130-TP	p.R131T	C	GGCATGGATCCTACCTAGAAA	NM_005548	NP_005539	75670442	Q15046	SYK_HUMAN	0			4	440	-	G	G			Missense_Mutation	131						
KARS	3735	broad.mit.edu	GRCh37	16	75665416	75665416	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0875-01	TCGA-06-0875-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319410.5:c.1234G>A	p.Asp412Asn	p.D412N	ENST00000319410	NM_001130089.1	412	Gat/Aat	0			1			T	D/N	uc002feq.2	protein_coding		CCDS10923.1			1150/1794									ovary(2)	2	c.(1150-1152)GAT>AAT			PROSITE_profiles:PS50862,HAMAP:MF_00252,hmmpanther:PTHR22594:SF4,hmmpanther:PTHR22594,TIGRFAM_domain:TIGR00499,Pfam_domain:PF00152,Gene3D:3.30.930.10,Superfamily_domains:SSF55681	lysyl-tRNA synthetase isoform 2	L-Lysine(DB00123)			ENSP00000303043		14-Sep									rs761886340,COSM3402481,COSM3402480	14-Sep	.		ENST00000302445	Transcript	1		interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding	ENSG00000065427	g.chr16:75665416C>T	6215			MODERATE		1.375	low	getma.org/?cm=msa&ty=f&p=SYK_HUMAN&rb=222&re=575&var=D384N	getma.org/pdb.php?prot=SYK_HUMAN&from=222&to=575&var=D384N	getma.org/?cm=var&var=hg19,16,75665416,C,T&fts=all	D384N	--	--	1																																		KARS_uc002fer.2_Missense_Mutation_p.D412N|KARS_uc002fes.2_Missense_Mutation_p.D228N	0,1,1			benign(0.005)	p.D384N	NM_005548	NP_005539		tolerated(0.06)	0,1,1	SYK_HUMAN	KARS	HGNC	Q15046	SYK_HUMAN			J3KRL2_HUMAN		9	1198	-			UPI000004062F	384					SNV	KARS,missense_variant,p.Asp412Asn,ENST00000319410,NM_001130089.1;KARS,missense_variant,p.Asp384Asn,ENST00000302445,NM_005548.2;KARS,intron_variant,,ENST00000568378,;KARS,downstream_gene_variant,,ENST00000570215,;KARS,downstream_gene_variant,,ENST00000568682,;KARS,downstream_gene_variant,,ENST00000566772,;KARS,3_prime_UTR_variant,,ENST00000564578,;KARS,downstream_gene_variant,,ENST00000566560,;KARS,downstream_gene_variant,,ENST00000562875,;KARS,downstream_gene_variant,,ENST00000566249,;KARS,upstream_gene_variant,,ENST00000569298,;	uc002feq.2	c.1150G>A	1190/2005	1	1			c.1150G>A						16	SNP	c.(1150-1152)GAT>AAT	4	4			ovary(2)	2	Broad	lysyl-tRNA synthetase isoform 2		L-Lysine(DB00123)	75665416		0.517	ENSG00000065427	7844	g.chr16:75665416C>T	interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding							70.846877	KEEP	27	19	-1	103	94	27	19	-1	82.607803	103	94	0.208054	1	0	0	0	0	1	0	0	0	--	--		0	T			KARS_uc002fer.2_Missense_Mutation_p.D412N|KARS_uc002fes.2_Missense_Mutation_p.D228N	71	GBM-06-0875-TP	p.D384N	C	AAGTCAACATCGTAGGCTTGG	NM_005548	NP_005539	75665416	Q15046	SYK_HUMAN	0			9	1198	-	T	T			Missense_Mutation	384						
KARS	0	broad.mit.edu	GRCh37	16	75669879	75669879	+	synonymous_variant	Silent	SNP	C	C	T	rs143003475		TCGA-19-2625-01	TCGA-19-2625-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302445.3:c.600G>A	p.Pro200=	p.P200=	ENST00000302445	NM_005548.2	200	ccG/ccA	0	T:0.0002		1			T	P	uc002feq.2	protein_coding		CCDS10923.1			600/1794									ovary(2)	2	c.(598-600)CCG>CCA			HAMAP:MF_00252,hmmpanther:PTHR22594:SF4,hmmpanther:PTHR22594,Gene3D:2.40.50.140,TIGRFAM_domain:TIGR00499,Pfam_domain:PF01336,Superfamily_domains:SSF50249	lysyl-tRNA synthetase isoform 2	L-Lysine(DB00123)		T:0.0001	ENSP00000303043		14-May	0.000189	9.62E-05	0.000173	0.000116		0.00015	0.00111	0.000424	rs143003475,COSM3402483,COSM3402482	14-May	common_variant		ENST00000302445	Transcript	1		interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding	ENSG00000065427	g.chr16:75669879C>T	6215			LOW								--	--	1																																		KARS_uc002fer.2_Silent_p.P228P|KARS_uc002fes.2_Silent_p.P44P|KARS_uc010cgz.2_Silent_p.P44P	0,1,1				p.P200P	NM_005548	NP_005539			0,1,1	SYK_HUMAN	KARS	HGNC	Q15046	SYK_HUMAN			J3KRL2_HUMAN		5	648	-			UPI000004062F	200					SNV	KARS,synonymous_variant,p.=,ENST00000319410,NM_001130089.1;KARS,synonymous_variant,p.=,ENST00000302445,NM_005548.2;KARS,synonymous_variant,p.=,ENST00000570215,;KARS,synonymous_variant,p.=,ENST00000568682,;KARS,synonymous_variant,p.=,ENST00000566772,;KARS,intron_variant,,ENST00000568378,;KARS,3_prime_UTR_variant,,ENST00000564578,;KARS,3_prime_UTR_variant,,ENST00000562875,;KARS,3_prime_UTR_variant,,ENST00000566249,;KARS,non_coding_transcript_exon_variant,,ENST00000566560,;KARS,downstream_gene_variant,,ENST00000565738,;	uc002feq.2	c.600G>A	640/2005	1	1			c.600G>A						16	SNP	c.(598-600)CCG>CCA	1	1			ovary(2)	2	Broad	lysyl-tRNA synthetase isoform 2		L-Lysine(DB00123)	75669879		0.448	ENSG00000065427	7844	g.chr16:75669879C>T	interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding							38.863854	KEEP	10	7	-1	29	28	10	7	-1	43.782645	29	28	0.225352	1	0	0	0	0	0	0	1	0	--	--		0	T			KARS_uc002fer.2_Silent_p.P228P|KARS_uc002fes.2_Silent_p.P44P|KARS_uc010cgz.2_Silent_p.P44P	165	GBM-19-2625-TP	p.P200P	C	TGATCTCATACGGAATGATGC	NM_005548	NP_005539	75669879	Q15046	SYK_HUMAN	0			5	648	-	T	T			Silent	200						
KAT5	10524	broad.mit.edu	GRCh37	11	65482151	65482151	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2557-01	TCGA-06-2557-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341318.4:c.876C>T	p.Val292=	p.V292=	ENST00000341318	NM_182710.2	292	gtC/gtT	0			1			T	V	uc001ofi.2	protein_coding		CCDS31610.1			777/1542										0	c.(775-777)GTC>GTT			hmmpanther:PTHR10615,Gene3D:1wgsA00,Superfamily_domains:SSF55729	K(lysine) acetyltransferase 5 isoform 2				ENSP00000366245		14-Aug	1.65E-05					1.50E-05		6.06E-05	rs771308702,COSM2152568	14-Aug	.		ENST00000377046	Transcript			androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity	ENSG00000172977	g.chr11:65482151C>T	5275			LOW								--	--	1																																		KAT5_uc001ofj.2_Silent_p.V207V|KAT5_uc001ofk.2_Silent_p.V292V|KAT5_uc010roo.1_Silent_p.V240V|KAT5_uc001ofl.2_Silent_p.V48V	0,1				p.V259V	NM_006388	NP_006379			0,1	KAT5_HUMAN	KAT5	HGNC	Q92993	KAT5_HUMAN			E9PMG8_HUMAN,E9PJI1_HUMAN		8	1027	+			UPI000000D8F9	259					SNV	KAT5,synonymous_variant,p.=,ENST00000341318,NM_182710.2;KAT5,synonymous_variant,p.=,ENST00000377046,NM_006388.3;KAT5,synonymous_variant,p.=,ENST00000352980,NM_182709.2,NM_001206833.1;KAT5,synonymous_variant,p.=,ENST00000534650,;KAT5,synonymous_variant,p.=,ENST00000530446,;KAT5,synonymous_variant,p.=,ENST00000531880,;RNASEH2C,downstream_gene_variant,,ENST00000308418,NM_032193.3;RNASEH2C,downstream_gene_variant,,ENST00000528220,;KAT5,upstream_gene_variant,,ENST00000533596,;KAT5,downstream_gene_variant,,ENST00000528198,;KAT5,downstream_gene_variant,,ENST00000534681,;KAT5,downstream_gene_variant,,ENST00000534104,;KAT5,downstream_gene_variant,,ENST00000530605,;KAT5,non_coding_transcript_exon_variant,,ENST00000534293,;KAT5,downstream_gene_variant,,ENST00000525204,;KAT5,non_coding_transcript_exon_variant,,ENST00000527544,;RNASEH2C,downstream_gene_variant,,ENST00000531596,;RNASEH2C,downstream_gene_variant,,ENST00000534482,;KAT5,downstream_gene_variant,,ENST00000532042,;KAT5,upstream_gene_variant,,ENST00000533441,;RNASEH2C,downstream_gene_variant,,ENST00000533698,;KAT5,upstream_gene_variant,,ENST00000525600,;	uc001ofi.2	c.777C>T	1049/2237	2	2			c.777C>T						11	SNP	c.(775-777)GTC>GTT	18	18				0	Broad	K(lysine) acetyltransferase 5 isoform 2			65482151		0.582	ENSG00000172977	7847	g.chr11:65482151C>T	androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity							313.515014	KEEP	50	62	-1	87	68	50	62	-1	314.924713	87	68	0.418699	1	0	0	0	0	0	0	1	0	--	--		0	T			KAT5_uc001ofj.2_Silent_p.V207V|KAT5_uc001ofk.2_Silent_p.V292V|KAT5_uc010roo.1_Silent_p.V240V|KAT5_uc001ofl.2_Silent_p.V48V	81	GBM-06-2557-TP	p.V259V	C	CATTGCCTGTCCTCTACCTGT	NM_006388	NP_006379	65482151	Q92993	KAT5_HUMAN	0			8	1027	+	T	T			Silent	259						
KAT5	0	broad.mit.edu	GRCh37	11	65486084	65486084	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01	TCGA-74-6573-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377046.3:c.1189G>A	p.Gly397Arg	p.G397R	ENST00000377046	NM_006388.3	397	Ggg/Agg	0			1			A	G/R	uc001ofi.2	protein_coding		CCDS31610.1			1189/1542										0	c.(1189-1191)GGG>AGG			hmmpanther:PTHR10615,Pfam_domain:PF01853,Gene3D:3.40.630.30,Superfamily_domains:SSF55729	K(lysine) acetyltransferase 5 isoform 2				ENSP00000366245		14-Dec									COSM3398048	14-Dec	.		ENST00000377046	Transcript			androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity	ENSG00000172977	g.chr11:65486084G>A	5275			MODERATE		2.095	medium	getma.org/?cm=msa&ty=f&p=KAT5_HUMAN&rb=285&re=477&var=G397R	getma.org/pdb.php?prot=KAT5_HUMAN&from=285&to=477&var=G397R	getma.org/?cm=var&var=hg19,11,65486084,G,A&fts=all	G397R	--	--	1																																		KAT5_uc001ofj.2_Missense_Mutation_p.G345R|KAT5_uc001ofk.2_Missense_Mutation_p.G430R|KAT5_uc010roo.1_Missense_Mutation_p.G378R|KAT5_uc001ofl.2_Missense_Mutation_p.G186R|RNASEH2C_uc001ofm.2_RNA|RNASEH2C_uc001ofn.2_3'UTR	1			probably_damaging(0.989)	p.G397R	NM_006388	NP_006379		deleterious(0)	1	KAT5_HUMAN	KAT5	HGNC	Q92993	KAT5_HUMAN			E9PMG8_HUMAN,E9PJI1_HUMAN		12	1439	+			UPI000000D8F9	397					SNV	KAT5,missense_variant,p.Gly430Arg,ENST00000341318,NM_182710.2;KAT5,missense_variant,p.Gly397Arg,ENST00000377046,NM_006388.3;KAT5,missense_variant,p.Gly345Arg,ENST00000352980,NM_182709.2,NM_001206833.1;KAT5,missense_variant,p.Gly186Arg,ENST00000534650,;KAT5,missense_variant,p.Gly378Arg,ENST00000530446,;RNASEH2C,3_prime_UTR_variant,,ENST00000308418,NM_032193.3;RNASEH2C,downstream_gene_variant,,ENST00000528220,;KAT5,downstream_gene_variant,,ENST00000531880,;RNASEH2C,downstream_gene_variant,,ENST00000527610,;KAT5,upstream_gene_variant,,ENST00000533596,;KAT5,downstream_gene_variant,,ENST00000528198,;KAT5,downstream_gene_variant,,ENST00000534681,;KAT5,downstream_gene_variant,,ENST00000534104,;KAT5,downstream_gene_variant,,ENST00000530605,;KAT5,downstream_gene_variant,,ENST00000525204,;KAT5,downstream_gene_variant,,ENST00000534293,;RNASEH2C,3_prime_UTR_variant,,ENST00000533698,;KAT5,non_coding_transcript_exon_variant,,ENST00000525600,;RNASEH2C,intron_variant,,ENST00000534482,;RNASEH2C,downstream_gene_variant,,ENST00000531596,;KAT5,downstream_gene_variant,,ENST00000527544,;KAT5,downstream_gene_variant,,ENST00000533441,;RNASEH2C,downstream_gene_variant,,ENST00000530192,;	uc001ofi.2	c.1189G>A	1461/2237	2	2			c.1189G>A						11	SNP	c.(1189-1191)GGG>AGG	25	25				0	Broad	K(lysine) acetyltransferase 5 isoform 2			65486084		0.468	ENSG00000172977	7847	g.chr11:65486084G>A	androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity							3.600031	KEEP	11	7	-1	113	103	11	7	-1	40.920222	113	103	0.08134	1	0	0	0	0	1	0	0	0	--	--		0	A			KAT5_uc001ofj.2_Missense_Mutation_p.G345R|KAT5_uc001ofk.2_Missense_Mutation_p.G430R|KAT5_uc010roo.1_Missense_Mutation_p.G378R|KAT5_uc001ofl.2_Missense_Mutation_p.G186R|RNASEH2C_uc001ofm.2_RNA|RNASEH2C_uc001ofn.2_3'UTR	260	GBM-74-6573-TP	p.G397R	G	CAAAGTGGAAGGGAAAACAGG	NM_006388	NP_006379	65486084	Q92993	KAT5_HUMAN	0			12	1439	+	A	A			Missense_Mutation	397						
KATNA1	11104	broad.mit.edu	GRCh37	6	149918283	149918283	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0185-01	TCGA-06-0185-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367411.2:c.1193T>G	p.Leu398Trp	p.L398W	ENST00000367411	NM_007044.3	398	tTg/tGg	0			1			C	L/W	uc003qmr.1	protein_coding		CCDS5217.1			1193/1476									skin(1)	1	c.(1192-1194)TTG>TGG			Low_complexity_(Seg):seg,HAMAP:MF_03023,hmmpanther:PTHR23074:SF71,hmmpanther:PTHR23074,Gene3D:1.10.8.60,Superfamily_domains:SSF52540	katanin p60 subunit A 1				ENSP00000335106		10-Sep									COSM3410655	10-Sep	.		ENST00000335647	Transcript			cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity	ENSG00000186625	g.chr6:149918283A>C	6216			MODERATE		1.105	low	getma.org/?cm=msa&ty=f&p=KTNA1_HUMAN&rb=382&re=437&var=L398W	getma.org/pdb.php?prot=KTNA1_HUMAN&from=382&to=437&var=L398W	getma.org/?cm=var&var=hg19,6,149918283,A,C&fts=all	L398W	--	--	1																																		KATNA1_uc003qms.2_Missense_Mutation_p.L398W|KATNA1_uc003qmt.2_Intron	1			probably_damaging(0.992)	p.L398W	NM_007044	NP_008975		deleterious(0)	1	KTNA1_HUMAN	KATNA1	HGNC	O75449	KTNA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)	B7ZBC9_HUMAN,B7ZBC8_HUMAN		9	1238	-		Ovarian(120;0.0164)	UPI0000071D68	398					SNV	KATNA1,missense_variant,p.Leu398Trp,ENST00000367411,NM_007044.3;KATNA1,missense_variant,p.Leu398Trp,ENST00000335647,;KATNA1,intron_variant,,ENST00000335643,NM_001204076.1;KATNA1,downstream_gene_variant,,ENST00000444282,;SNORA2,downstream_gene_variant,,ENST00000365473,;RP1-12G14.7,upstream_gene_variant,,ENST00000419134,;KATNA1,non_coding_transcript_exon_variant,,ENST00000494504,;KATNA1,downstream_gene_variant,,ENST00000470620,;KATNA1,downstream_gene_variant,,ENST00000481905,;RPS18P9,downstream_gene_variant,,ENST00000482817,;	uc003qmr.1	c.1193T>G	1238/1684	3	3			c.1193T>G						6	SNP	c.(1192-1194)TTG>TGG	1	1			skin(1)	1	Broad	katanin p60 subunit A 1			149918283		0.388	ENSG00000186625	7848	g.chr6:149918283A>C	cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity							-2.825899	KEEP	4	2	-1	51	53	4	2	-1	16.045936	51	53	0.063158	1	0	0	0	0	1	0	0	0	--	--		0	C			KATNA1_uc003qms.2_Missense_Mutation_p.L398W|KATNA1_uc003qmt.2_Intron	40	GBM-06-0185-TP	p.L398W	A	AGCCAATTCCAACTCACGTAG	NM_007044	NP_008975	149918283	O75449	KTNA1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)	9	1238	-	C	C		Ovarian(120;0.0164)	Missense_Mutation	398						
KAZN	0	broad.mit.edu	GRCh37	1	15441012	15441012	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6698-01	TCGA-06-6698-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376030.2:c.2209G>A	p.Asp737Asn	p.D737N	ENST00000376030	NM_201628.2	737	Gat/Aat	0			1			A	D/N	uc001avm.3	protein_coding	YES	CCDS152.2			2209/2328										0	c.(2209-2211)GAT>AAT			hmmpanther:PTHR12776	kazrin isoform E				ENSP00000365198		15/15	1.65E-05							8.42E-05	rs201963397,COSM3399788,COSM3399789	15/15	.		ENST00000376030	Transcript			keratinization	cornified envelope|cytoplasm|desmosome|nucleus		ENSG00000189337	g.chr1:15441012G>A	29173			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=KAZRN_HUMAN&rb=672&re=775&var=D737N	NA	getma.org/?cm=var&var=hg19,1,15441012,G,A&fts=all	D737N	--	--	1																																		C1orf126_uc001avv.3_RNA|C1orf126_uc009voh.2_RNA|KAZ_uc001avs.3_Missense_Mutation_p.D184N	0,1,1	1		probably_damaging(0.985)	p.D737N	NM_201628	NP_963922		tolerated_low_confidence(0.12)	0,1,1	KAZRN_HUMAN	KAZN	HGNC	Q674X7	KAZRN_HUMAN			B4DEV2_HUMAN,B0QYQ6_HUMAN		15	2490	+			UPI0000E1E68A	737					SNV	KAZN,missense_variant,p.Asp737Asn,ENST00000376030,NM_201628.2;TMEM51-AS1,downstream_gene_variant,,ENST00000310916,;TMEM51-AS1,downstream_gene_variant,,ENST00000404665,;	uc001avm.3	c.2209G>A	2503/6030	1	1			c.2209G>A						1	SNP	c.(2209-2211)GAT>AAT	50	50				0	Broad	kazrin isoform E			15441012		0.493	ENSG00000189337	7852	g.chr1:15441012G>A	keratinization	cornified envelope|cytoplasm|desmosome|nucleus								69.662765	KEEP	8	19	-1	5	1	8	19	-1	71.775185	5	1	0.785714	1	0	0	0	0	1	0	0	0	--	--		0	A			C1orf126_uc001avv.3_RNA|C1orf126_uc009voh.2_RNA|KAZ_uc001avs.3_Missense_Mutation_p.D184N	112	GBM-06-6698-TP	p.D737N	G	CAAAGATCCCGATTTCCATGA	NM_201628	NP_963922	15441012	Q674X7	KAZRN_HUMAN	0			15	2490	+	A	A			Missense_Mutation	737						
KAZN	0	broad.mit.edu	GRCh37	1	15370623	15370623	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-3915-01	TCGA-41-3915-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376030.2:c.694C>T	p.Arg232Trp	p.R232W	ENST00000376030	NM_201628.2	232	Cgg/Tgg	0			1			T	R/W	uc001avm.3	protein_coding	YES	CCDS152.2			694/2328										0	c.(694-696)CGG>TGG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12776	kazrin isoform E				ENSP00000365198		15-Apr									COSM3399770,COSM3399769	15-Apr	.		ENST00000376030	Transcript			keratinization	cornified envelope|cytoplasm|desmosome|nucleus		ENSG00000189337	g.chr1:15370623C>T	29173			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=KAZRN_HUMAN&rb=1&re=244&var=R232W	NA	getma.org/?cm=var&var=hg19,1,15370623,C,T&fts=all	R232W	--	--	1																																		KAZ_uc009vog.1_Missense_Mutation_p.R232W|KAZ_uc010obj.1_Missense_Mutation_p.R232W|KAZ_uc001avo.2_Missense_Mutation_p.R226W|KAZ_uc001avp.2_Missense_Mutation_p.R138W|KAZ_uc001avq.2_Missense_Mutation_p.R138W|KAZ_uc001avr.2_Missense_Mutation_p.R135W	1,1	1		probably_damaging(0.985)	p.R232W	NM_201628	NP_963922		deleterious(0)	1,1	KAZRN_HUMAN	KAZN	HGNC	Q674X7	KAZRN_HUMAN			B4DEV2_HUMAN,B0QYQ6_HUMAN		4	975	+			UPI0000E1E68A	232			Interaction with PPL.|Potential.		SNV	KAZN,missense_variant,p.Arg232Trp,ENST00000376030,NM_201628.2;KAZN,missense_variant,p.Arg232Trp,ENST00000422387,NM_015209.2;KAZN,missense_variant,p.Arg226Trp,ENST00000361144,NM_001018000.3;KAZN,missense_variant,p.Arg138Trp,ENST00000400798,NM_001018001.2;KAZN,missense_variant,p.Arg232Trp,ENST00000503743,;KAZN,missense_variant,p.Arg138Trp,ENST00000400797,NM_001017999.2;KAZN,missense_variant,p.Arg138Trp,ENST00000376028,;KAZN,non_coding_transcript_exon_variant,,ENST00000491547,;	uc001avm.3	c.694C>T	988/6030	2	2			c.694C>T						1	SNP	c.(694-696)CGG>TGG	29	29				0	Broad	kazrin isoform E			15370623		0.677	ENSG00000189337	7852	g.chr1:15370623C>T	keratinization	cornified envelope|cytoplasm|desmosome|nucleus								-30.293101	KEEP	4	1	-1	74	102	4	1	-1	6.413087	74	102	0.020979	1	0	0	0	0	1	0	0	0	--	--		0	T			KAZ_uc009vog.1_Missense_Mutation_p.R232W|KAZ_uc010obj.1_Missense_Mutation_p.R232W|KAZ_uc001avo.2_Missense_Mutation_p.R226W|KAZ_uc001avp.2_Missense_Mutation_p.R138W|KAZ_uc001avq.2_Missense_Mutation_p.R138W|KAZ_uc001avr.2_Missense_Mutation_p.R135W	256	GBM-41-3915-TP	p.R232W	C	CAAGGACAACCGGATGAAGGA	NM_201628	NP_963922	15370623	Q674X7	KAZRN_HUMAN	0			4	975	+	T	T			Missense_Mutation	232			Interaction with PPL.|Potential.			
KBTBD12	0	broad.mit.edu	GRCh37	3	127682174	127682174	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000405109.1:c.1635C>T	p.Thr545=	p.T545=	ENST00000405109		545	acC/acT	0			1			T	T	uc010hsr.2	protein_coding	YES	CCDS33848.2			1635/1872									ovary(1)	1	c.(1633-1635)ACC>ACT			Superfamily_domains:0052715,Gene3D:1zgkA00,Pfam_domain:PF01344,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF25,SMART_domains:SM00612	kelch domain containing 6				ENSP00000385957		6-May									COSM2154829	6-May	.		ENST00000405109	Transcript						ENSG00000187715	g.chr3:127682174C>T	25731			LOW								--	--	1																																		KBTBD12_uc003ejy.3_Silent_p.T152T|KBTBD12_uc010hsq.2_RNA|KBTBD12_uc003eka.3_Silent_p.T120T	1	1			p.T545T	NM_207335	NP_997218			1	KBTBC_HUMAN	KBTBD12	HGNC	Q3ZCT8	KBTBC_HUMAN			B5MCZ4_HUMAN		4	1638	+			UPI00001D802F	545			Kelch 3.		SNV	KBTBD12,synonymous_variant,p.=,ENST00000405109,;KBTBD12,synonymous_variant,p.=,ENST00000405256,NM_207335.2;KBTBD12,synonymous_variant,p.=,ENST00000407609,;KBTBD12,synonymous_variant,p.=,ENST00000343941,;RNA5SP139,upstream_gene_variant,,ENST00000364340,;KBTBD12,non_coding_transcript_exon_variant,,ENST00000492025,;KBTBD12,non_coding_transcript_exon_variant,,ENST00000476626,;	uc010hsr.2	c.1635C>T	2102/5727	2	2			c.1635C>T						3	SNP	c.(1633-1635)ACC>ACT	40	40			ovary(1)	1	Broad	kelch domain containing 6			127682174		0.532	ENSG00000187715	7855	g.chr3:127682174C>T										22.185338	KEEP	3	7	-1	13	12	3	7	-1	23.661387	13	12	0.266667	1	0	0	0	0	0	0	1	0	--	--		0	T			KBTBD12_uc003ejy.3_Silent_p.T152T|KBTBD12_uc010hsq.2_RNA|KBTBD12_uc003eka.3_Silent_p.T120T	139	GBM-14-0817-TP	p.T545T	C	CCAATTCCACCAATGCAGGGG	NM_207335	NP_997218	127682174	Q3ZCT8	KBTBC_HUMAN	0			4	1638	+	T	T			Silent	545			Kelch 3.			
KBTBD2	25948	broad.mit.edu	GRCh37	7	32909138	32909138	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2569-01	TCGA-06-2569-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304056.4:c.1691G>A	p.Arg564Gln	p.R564Q	ENST00000304056	NM_015483.2	564	cGg/cAg	0			1			T	R/Q	uc003tdb.2	protein_coding	YES	CCDS34614.1			1691/1872										0	c.(1690-1692)CGG>CAG			Superfamily_domains:0052715,Gene3D:1zgkA00,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF124	kelch repeat and BTB (POZ) domain containing 2				ENSP00000302586		4-Apr	8.24E-06					1.50E-05			rs763551950,COSM3228163	4-Apr	.		ENST00000304056	Transcript						ENSG00000170852	g.chr7:32909138C>T	21751			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=KBTB2_HUMAN&rb=517&re=623&var=R564Q	NA	getma.org/?cm=var&var=hg19,7,32909138,C,T&fts=all	R564Q	--	--	1																																		AVL9_uc011kai.1_Intron	0,1	1		benign(0.297)	p.R564Q	NM_015483	NP_056298		tolerated(0.58)	0,1	KBTB2_HUMAN	KBTBD2	HGNC	Q8IY47	KBTB2_HUMAN	GBM - Glioblastoma multiforme(11;0.0499)		C9JZ29_HUMAN,C9JI11_HUMAN		4	2350	-			UPI0000036156	564			Kelch 5.		SNV	KBTBD2,missense_variant,p.Arg564Gln,ENST00000304056,NM_015483.2;AVL9,intron_variant,,ENST00000404479,;KBTBD2,downstream_gene_variant,,ENST00000485611,;KBTBD2,downstream_gene_variant,,ENST00000477129,;	uc003tdb.2	c.1691G>A	2391/3745	1	1			c.1691G>A						7	SNP	c.(1690-1692)CGG>CAG	4	4				0	Broad	kelch repeat and BTB (POZ) domain containing 2			32909138		0.463	ENSG00000170852	7856	g.chr7:32909138C>T										61.192315	KEEP	15	18	-1	80	95	15	18	-1	80.390117	80	95	0.162921	1	0	0	0	0	1	0	0	0	--	--		0	T			AVL9_uc011kai.1_Intron	90	GBM-06-2569-TP	p.R564Q	C	TATATGCTGCCGCAGAGACCA	NM_015483	NP_056298	32909138	Q8IY47	KBTB2_HUMAN	0	GBM - Glioblastoma multiforme(11;0.0499)		4	2350	-	T	T			Missense_Mutation	564			Kelch 5.			
KBTBD6	0	broad.mit.edu	GRCh37	13	41705212	41705212	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-5208-01	TCGA-28-5208-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379485.1:c.1436T>C	p.Leu479Pro	p.L479P	ENST00000379485	NM_152903.4	479	cTa/cCa	0			1			G	L/P	uc001uxu.1	protein_coding	YES	CCDS9376.1			1436/2025									ovary(1)|skin(1)	2	c.(1435-1437)CTA>CCA			Superfamily_domains:0052715,Gene3D:1zgkA00,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF132,SMART_domains:SM00612	kelch repeat and BTB (POZ) domain-containing 6				ENSP00000368799		1-Jan									COSM3399369	1-Jan	.		ENST00000379485	Transcript					protein binding	ENSG00000165572	g.chr13:41705212A>G	25340			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=KBTB6_HUMAN&rb=472&re=671&var=L479P	NA	getma.org/?cm=var&var=hg19,13,41705212,A,G&fts=all	L479P	--	--	1																																		KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.L413P|uc001uxv.1_5'Flank	1	1		probably_damaging(0.961)	p.L479P	NM_152903	NP_690867		deleterious(0.04)	1	KBTB6_HUMAN	KBTBD6	HGNC	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)			1	1725	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	UPI00001969BB	479			Kelch 2.		SNV	KBTBD6,missense_variant,p.Leu479Pro,ENST00000379485,NM_152903.4;KBTBD6,missense_variant,p.Leu413Pro,ENST00000499385,;	uc001uxu.1	c.1436T>C	1671/5178	3	3			c.1436T>C						13	SNP	c.(1435-1437)CTA>CCA	11	11			ovary(1)|skin(1)	2	Broad	kelch repeat and BTB (POZ) domain-containing 6			41705212		0.433	ENSG00000165572	7860	g.chr13:41705212A>G			protein binding							-35.609285	KEEP	0	3	-1	84	78	0	3	-1	6.938199	84	78	0.018405	1	0	0	0	0	1	0	0	0	--	--		0	G			KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.L413P|uc001uxv.1_5'Flank	217	GBM-28-5208-TP	p.L479P	A	AATTACCATTAGGTCAAAGGA	NM_152903	NP_690867	41705212	Q86V97	KBTB6_HUMAN	0		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1725	-	G	G		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	Missense_Mutation	479			Kelch 2.			
KBTBD8	0	broad.mit.edu	GRCh37	3	67054666	67054666	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-1836-01	TCGA-27-1836-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000417314.2:c.1275C>T	p.Cys425=	p.C425=	ENST00000417314		425	tgC/tgT	0		T:0.0008	1	T:0		T	C	uc003dmy.2	protein_coding	YES	CCDS2906.2			1275/1806									ovary(2)|large_intestine(1)|breast(1)	4	c.(1273-1275)TGC>TGT			hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF24,Pfam_domain:PF01344,Gene3D:1zgkA00,SMART_domains:SM00612,PIRSF_domain:PIRSF037037,Superfamily_domains:0052715	T-cell activation kelch repeat protein		T:0.001		ENSP00000401878	T:0	4-Mar	5.77E-05	0.000193	0.000173	0.000116		3.01E-05			rs183048924,COSM3408862,COSM3408861	4-Mar	.		ENST00000417314	Transcript		T:0.0004				ENSG00000163376	g.chr3:67054666C>T	30691			LOW								--	--	1																																		KBTBD8_uc011bfv.1_Intron	0,1,1	1			p.C425C	NM_032505	NP_115894	T:0		0,1,1	KBTB8_HUMAN	KBTBD8	HGNC	Q8NFY9	KBTB8_HUMAN		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)	C9JAA6_HUMAN,C9J331_HUMAN		3	1328	+		Lung NSC(201;0.0765)	UPI0000209974	425			Kelch 2.		SNV	KBTBD8,synonymous_variant,p.=,ENST00000295568,NM_032505.2;KBTBD8,synonymous_variant,p.=,ENST00000417314,;KBTBD8,intron_variant,,ENST00000460576,;KBTBD8,downstream_gene_variant,,ENST00000484414,;KBTBD8,downstream_gene_variant,,ENST00000460784,;KBTBD8,downstream_gene_variant,,ENST00000469661,;	uc003dmy.2	c.1275C>T	1324/4680	1	1			c.1275C>T						3	SNP	c.(1273-1275)TGC>TGT	1	1			ovary(2)|large_intestine(1)|breast(1)	4	Broad	T-cell activation kelch repeat protein			67054666		0.413	ENSG00000163376	7862	g.chr3:67054666C>T										-91.693022	KEEP	2	4	-1	207	190	2	4	-1	9.876315	207	190	0.015707	1	0	0	0	0	0	0	1	0	--	--		0	T			KBTBD8_uc011bfv.1_Intron	195	GBM-27-1836-TP	p.C425C	C	CGACTGTTTGCGCGATGCCAG	NM_032505	NP_115894	67054666	Q8NFY9	KBTB8_HUMAN	0		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)	3	1328	+	T	T		Lung NSC(201;0.0765)	Silent	425			Kelch 2.			
KCNA1	0	broad.mit.edu	GRCh37	12	5020794	5020794	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0781-01	TCGA-14-0781-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382545.3:c.250C>T	p.Arg84Cys	p.R84C	ENST00000382545	NM_000217.2	84	Cgc/Tgc	0			1			T	R/C	uc001qnh.2	protein_coding	YES	CCDS8535.1			250/1488									ovary(1)|skin(1)	2	c.(250-252)CGC>TGC			Gene3D:3.30.710.10,Pfam_domain:PF02214,Prints_domain:PR00169,Prints_domain:PR01491,Prints_domain:PR01496,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF24,SMART_domains:SM00225,Superfamily_domains:SSF54695	potassium voltage-gated channel subfamily A	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)			ENSP00000371985		2-Feb									COSM3398786	2-Feb	.		ENST00000382545	Transcript	1		synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	ENSG00000111262	g.chr12:5020794C>T	6218			MODERATE		4.715	high	getma.org/?cm=msa&ty=f&p=KCNA1_HUMAN&rb=39&re=130&var=R84C	getma.org/pdb.php?prot=KCNA1_HUMAN&from=39&to=130&var=R84C	getma.org/?cm=var&var=hg19,12,5020794,C,T&fts=all	R84C	--	--	1																																			1	1		probably_damaging(1)	p.R84C	NM_000217	NP_000208		deleterious(0)	1	KCNA1_HUMAN	KCNA1	HGNC	Q09470	KCNA1_HUMAN					2	1355	+			UPI000013C8E0	84					SNV	KCNA1,missense_variant,p.Arg84Cys,ENST00000382545,NM_000217.2;KCNA1,intron_variant,,ENST00000543874,;KCNA1,intron_variant,,ENST00000541095,;	uc001qnh.2	c.250C>T	1357/7976	2	2			c.250C>T						12	SNP	c.(250-252)CGC>TGC	43	43			ovary(1)|skin(1)	2	Broad	potassium voltage-gated channel subfamily A		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	5020794		0.627	ENSG00000111262	7864	g.chr12:5020794C>T	synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity							0.520648	KEEP	3	8	-1	54	70	3	8	-1	23.479025	54	70	0.07874	1	0	0	0	0	1	0	0	0	--	--		0	T				133	GBM-14-0781-TP	p.R84C	C	CTTCTTCGACCGCAACCGGCC	NM_000217	NP_000208	5020794	Q09470	KCNA1_HUMAN	0			2	1355	+	T	T			Missense_Mutation	84						
KCNA10	3744	broad.mit.edu	GRCh37	1	111060530	111060530	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5417-01	TCGA-06-5417-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369771.2:c.880C>T	p.Pro294Ser	p.P294S	ENST00000369771	NM_005549.2	294	Ccc/Tcc	0			1			A	P/S	uc001dzt.1	protein_coding	YES	CCDS826.1			880/1536									ovary(3)|large_intestine(1)	4	c.(880-882)CCC>TCC			Gene3D:1.20.120.350,Pfam_domain:PF00520,Prints_domain:PR00169,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF44,Superfamily_domains:SSF81324	potassium voltage-gated channel, shaker-related				ENSP00000358786		1-Jan	1.65E-05							0.000121	rs754042866,COSM1626304	1-Jan	.		ENST00000369771	Transcript				voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	ENSG00000143105	g.chr1:111060530G>A	6219			MODERATE		2.935	medium	getma.org/?cm=msa&ty=f&p=KCA10_HUMAN&rb=273&re=456&var=P294S	getma.org/pdb.php?prot=KCA10_HUMAN&from=273&to=456&var=P294S	getma.org/?cm=var&var=hg19,1,111060530,G,A&fts=all	P294S	--	--	1																																			0,1	1		probably_damaging(1)	p.P294S	NM_005549	NP_005540		deleterious(0)	0,1	KCA10_HUMAN	KCNA10	HGNC	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Q7KYZ7_HUMAN		1	1268	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	UPI0000071B2B	294					SNV	KCNA10,missense_variant,p.Pro294Ser,ENST00000369771,NM_005549.2;	uc001dzt.1	c.880C>T	1268/1959	2	2			c.880C>T						1	SNP	c.(880-882)CCC>TCC	28	28			ovary(3)|large_intestine(1)	4	Broad	potassium voltage-gated channel, shaker-related			111060530		0.512	ENSG00000143105	7865	g.chr1:111060530G>A		voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity							341.882828	KEEP	51	58	-1	49	45	51	58	-1	342.208772	49	45	0.544503	1	0	0	0	0	1	0	0	0	--	--		0	A				99	GBM-06-5417-TP	p.P294S	G	GTCTTGCTGGGGCAGACCACG	NM_005549	NP_005540	111060530	Q16322	KCA10_HUMAN	0		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	1268	-	A	A		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	Missense_Mutation	294						
KCNA10	0	broad.mit.edu	GRCh37	1	111061339	111061339	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-26-5135-01	TCGA-26-5135-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369771.2:c.71A>T	p.Glu24Val	p.E24V	ENST00000369771	NM_005549.2	24	gAa/gTa	0			1			A	E/V	uc001dzt.1	protein_coding	YES	CCDS826.1			71/1536									ovary(3)|large_intestine(1)	4	c.(70-72)GAA>GTA				potassium voltage-gated channel, shaker-related				ENSP00000358786		1-Jan									COSM2157041	1-Jan	.		ENST00000369771	Transcript				voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	ENSG00000143105	g.chr1:111061339T>A	6219			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=KCA10_HUMAN&rb=1&re=87&var=E24V	NA	getma.org/?cm=var&var=hg19,1,111061339,T,A&fts=all	E24V	--	--	1																																			1	1		benign(0.19)	p.E24V	NM_005549	NP_005540		tolerated_low_confidence(0.05)	1	KCA10_HUMAN	KCNA10	HGNC	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Q7KYZ7_HUMAN		1	459	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	UPI0000071B2B	24					SNV	KCNA10,missense_variant,p.Glu24Val,ENST00000369771,NM_005549.2;	uc001dzt.1	c.71A>T	459/1959	1	1			c.71A>T						1	SNP	c.(70-72)GAA>GTA	60	60			ovary(3)|large_intestine(1)	4	Broad	potassium voltage-gated channel, shaker-related			111061339		0.522	ENSG00000143105	7865	g.chr1:111061339T>A		voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity							76.883226	KEEP	15	14	-1	24	22	15	14	-1	77.419146	24	22	0.405797	1	0	0	0	0	1	0	0	0	--	--		0	A				184	GBM-26-5135-TP	p.E24V	T	GCCTGGCTCTTCTTGGATTTC	NM_005549	NP_005540	111061339	Q16322	KCA10_HUMAN	0		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	459	-	A	A		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	Missense_Mutation	24						
KCNA2	3737	broad.mit.edu	GRCh37	1	111146955	111146955	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-02-2470-01	TCGA-02-2470-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000485317.1:c.450G>T	p.Trp150Cys	p.W150C	ENST00000485317		150	tgG/tgT	0			1			A	W/C	uc001dzu.2	protein_coding		CCDS827.1			450/1500									ovary(1)	1	c.(448-450)TGG>TGT			Gene3D:1.20.120.350,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF23	potassium voltage-gated channel, shaker-related				ENSP00000314520		3-Mar									COSM2149114	3-Mar	.		ENST00000316361	Transcript	1			juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	ENSG00000177301	g.chr1:111146955C>A	6220			MODERATE		4.22	high	getma.org/?cm=msa&ty=f&p=KCNA2_HUMAN&rb=127&re=223&var=W150C	getma.org/pdb.php?prot=KCNA2_HUMAN&from=127&to=223&var=W150C	getma.org/?cm=var&var=hg19,1,111146955,C,A&fts=all	W150C	--	--	1																																		KCNA2_uc009wfv.1_Missense_Mutation_p.W150C|KCNA2_uc009wfw.2_Missense_Mutation_p.W150C	1			probably_damaging(0.992)	p.W150C	NM_004974	NP_004965		deleterious(0)	1	KCNA2_HUMAN	KCNA2	HGNC	P16389	KCNA2_HUMAN		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)			2	946	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	UPI00001279A1	150					SNV	KCNA2,missense_variant,p.Trp150Cys,ENST00000485317,;KCNA2,missense_variant,p.Trp150Cys,ENST00000316361,NM_004974.3;KCNA2,missense_variant,p.Trp150Cys,ENST00000440270,;KCNA2,missense_variant,p.Trp150Cys,ENST00000369770,NM_001204269.1;KCNA2,intron_variant,,ENST00000525120,;	uc001dzu.2	c.450G>T	1071/2150	2	2			c.450G>T						1	SNP	c.(448-450)TGG>TGT	36	36			ovary(1)	1	Broad	potassium voltage-gated channel, shaker-related			111146955		0.473	ENSG00000177301	7866	g.chr1:111146955C>A		juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	Pancreas(18;568 735 10587 23710 36357)			Pancreas(18;568 735 10587 23710 36357)			55.255341	KEEP	9	14	0.608695652	37	30	9	14	0.608695652	58.994396	37	30	0.269231	1	0	0	0	0	1	0	0	0	--	--		0	A			KCNA2_uc009wfv.1_Missense_Mutation_p.W150C|KCNA2_uc009wfw.2_Missense_Mutation_p.W150C	5	GBM-02-2470-TP	p.W150C	C	CAAAGAGAAGCCACACTTGTC	NM_004974	NP_004965	111146955	P16389	KCNA2_HUMAN	0		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	2	946	-	A	A		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	Missense_Mutation	150						
KCNA4	0	broad.mit.edu	GRCh37	11	30033178	30033178	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-28-5209-01	TCGA-28-5209-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328224.6:c.1048T>A	p.Leu350Met	p.L350M	ENST00000328224	NM_002233.3	350	Ttg/Atg	0			1			T	L/M	uc001msk.2	protein_coding	YES	CCDS41629.1			1048/1962									ovary(2)|central_nervous_system(1)|pancreas(1)	4	c.(1048-1050)TTG>ATG			hmmpanther:PTHR11537:SF45,hmmpanther:PTHR11537,Gene3D:1.20.120.350	potassium voltage-gated channel, shaker-related				ENSP00000328511		2-Feb									COSM3397629	2-Feb	.		ENST00000328224	Transcript				voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	ENSG00000182255	g.chr11:30033178A>T	6222			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=KCNA4_HUMAN&rb=270&re=372&var=L350M	getma.org/pdb.php?prot=KCNA4_HUMAN&from=270&to=372&var=L350M	getma.org/?cm=var&var=hg19,11,30033178,A,T&fts=all	L350M	--	--	1																																			1	1		benign(0.11)	p.L350M	NM_002233	NP_002224		tolerated(0.17)	1	KCNA4_HUMAN	KCNA4	HGNC	P22459	KCNA4_HUMAN					2	2200	-			UPI00001649FF	350					SNV	KCNA4,missense_variant,p.Leu350Met,ENST00000328224,NM_002233.3;KCNA4,downstream_gene_variant,,ENST00000526518,;	uc001msk.2	c.1048T>A	2282/4172	2	2			c.1048T>A						11	SNP	c.(1048-1050)TTG>ATG	28	28			ovary(2)|central_nervous_system(1)|pancreas(1)	4	Broad	potassium voltage-gated channel, shaker-related			30033178		0.478	ENSG00000182255	7868	g.chr11:30033178A>T		voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity							260.32454	KEEP	54	57	-1	51	47	54	57	-1	260.429778	51	47	0.527174	1	0	0	0	0	1	0	0	0	--	--		0	T				218	GBM-28-5209-TP	p.L350M	A	TCATTCAACAACCCACCATGC	NM_002233	NP_002224	30033178	P22459	KCNA4_HUMAN	0			2	2200	-	T	T			Missense_Mutation	350						
KCNA4	3739		GRCh37	11	30033088	30033088	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000328224.6:c.1138G>T	p.Val380Leu	p.V380L	ENST00000328224	NM_002233.3	380	Gta/Tta	0																																																																																																																																																																																																																																												
KCNA5	0	broad.mit.edu	GRCh37	12	5153876	5153876	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01	TCGA-41-3393-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252321.3:c.563C>T	p.Pro188Leu	p.P188L	ENST00000252321	NM_002234.3	188	cCg/cTg	0			1			T	P/L	uc001qni.2	protein_coding	YES	CCDS8536.1			563/1842									ovary(2)|breast(2)	4	c.(562-564)CCG>CTG			Gene3D:3.30.710.10,Pfam_domain:PF02214,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF25,SMART_domains:SM00225,Superfamily_domains:SSF54695	potassium voltage-gated channel, shaker-related				ENSP00000252321		1-Jan									COSM287380	1-Jan	.		ENST00000252321	Transcript	1			Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	ENSG00000130037	g.chr12:5153876C>T	6224			MODERATE		3.295	medium	getma.org/?cm=msa&ty=f&p=KCNA5_HUMAN&rb=122&re=213&var=P188L	getma.org/pdb.php?prot=KCNA5_HUMAN&from=122&to=213&var=P188L	getma.org/?cm=var&var=hg19,12,5153876,C,T&fts=all	P188L	--	--	1																																			1	1		probably_damaging(1)	p.P188L	NM_002234	NP_002225		deleterious(0)	1	KCNA5_HUMAN	KCNA5	HGNC	P22460	KCNA5_HUMAN					1	792	+			UPI000013CD56	188	RP -> G (in Ref. 1; AAA61276).				SNV	KCNA5,missense_variant,p.Pro188Leu,ENST00000252321,NM_002234.3;	uc001qni.2	c.563C>T	792/2865	1	1			c.563C>T						12	SNP	c.(562-564)CCG>CTG	4	4			ovary(2)|breast(2)	4	Broad	potassium voltage-gated channel, shaker-related			5153876		0.617	ENSG00000130037	7869	g.chr12:5153876C>T		Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity							88.35882	KEEP	19	22	-1	48	29	19	22	-1	89.483592	48	29	0.371795	1	0	0	0	0	1	0	0	0	--	--		0	T				255	GBM-41-3393-TP	p.P188L	C	CTGCGGAGGCCGGTCAACGTC	NM_002234	NP_002225	5153876	P22460	KCNA5_HUMAN	0			1	792	+	T	T			Missense_Mutation	188	RP -> G (in Ref. 1; AAA61276).					
KCNA6	0	broad.mit.edu	GRCh37	12	4919731	4919731	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-1986-01	TCGA-32-1986-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000280684.3:c.524G>C	p.Gly175Ala	p.G175A	ENST00000280684		175	gGc/gCc	0			1			C	G/A	uc001qng.2	protein_coding		CCDS8534.1			524/1590									skin(2)|ovary(1)	3	c.(523-525)GGC>GCC			Transmembrane_helices:TMhelix,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF112,Gene3D:1.20.120.350,Superfamily_domains:SSF81324,Prints_domain:PR00169,Prints_domain:PR01496	potassium voltage-gated channel, shaker-related				ENSP00000280684		1-Jan									COSM3747922	1-Jan	.		ENST00000280684	Transcript				voltage-gated potassium channel complex	voltage-gated potassium channel activity	ENSG00000151079	g.chr12:4919731G>C	6225			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=KCNA6_HUMAN&rb=135&re=264&var=G175A	getma.org/pdb.php?prot=KCNA6_HUMAN&from=135&to=264&var=G175A	getma.org/?cm=var&var=hg19,12,4919731,G,C&fts=all	G175A	--	--	1				HNSCC(72;0.22)																															1			benign(0.045)	p.G175A	NM_002235	NP_002226		tolerated(0.12)	1	KCNA6_HUMAN	KCNA6	HGNC	P17658	KCNA6_HUMAN					1	1390	+			UPI00001279AD	175			Helical; Name=Segment S1; (Potential).		SNV	KCNA6,missense_variant,p.Gly175Ala,ENST00000433855,NM_002235.3;KCNA6,missense_variant,p.Gly175Ala,ENST00000280684,;GALNT8,intron_variant,,ENST00000542998,;RP11-234B24.4,upstream_gene_variant,,ENST00000542988,;GALNT8,upstream_gene_variant,,ENST00000541339,;	uc001qng.2	c.524G>C	1390/4237	4	4			c.524G>C						12	SNP	c.(523-525)GGC>GCC	33	33			skin(2)|ovary(1)	3	Broad	potassium voltage-gated channel, shaker-related			4919731		0.597	ENSG00000151079	7870	g.chr12:4919731G>C		voltage-gated potassium channel complex	voltage-gated potassium channel activity							24.945745	KEEP	9	5	-1	26	36	9	5	-1	30.338321	26	36	0.186441	1	0	0	0	0	1	0	0	0	--	--	HNSCC(72;0.22)	0	C				233	GBM-32-1986-TP	p.G175A	G	CCGGCCAGGGGCATCGCCATC	NM_002235	NP_002226	4919731	P17658	KCNA6_HUMAN	0			1	1390	+	C	C			Missense_Mutation	175			Helical; Name=Segment S1; (Potential).			
KCNA7	0	broad.mit.edu	GRCh37	19	49573469	49573469	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01	TCGA-41-3392-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221444.1:c.1222G>A	p.Glu408Lys	p.E408K	ENST00000221444	NM_031886.2	408	Gaa/Aaa	0		T:0.0008	1	T:0		T	E/K	uc002pmg.2	protein_coding	YES	CCDS12755.1			1222/1371									central_nervous_system(1)	1	c.(1222-1224)GAA>AAA			hmmpanther:PTHR11537:SF19,hmmpanther:PTHR11537	potassium voltage-gated channel, shaker-related		T:0		ENSP00000221444	T:0	2-Feb	8.24E-06	9.62E-05							rs541248038,COSM3404442	2-Feb	.		ENST00000221444	Transcript		T:0.0002		voltage-gated potassium channel complex	voltage-gated potassium channel activity	ENSG00000104848	g.chr19:49573469C>T	6226			MODERATE		2.535	medium	getma.org/?cm=msa&ty=f&p=KCNA7_HUMAN&rb=394&re=456&var=E408K	NA	getma.org/?cm=var&var=hg19,19,49573469,C,T&fts=all	E408K	--	--	1																																			0,1	1		possibly_damaging(0.57)	p.E408K	NM_031886	NP_114092	T:0	tolerated(0.05)	0,1	KCNA7_HUMAN	KCNA7	HGNC	Q96RP8	KCNA7_HUMAN		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)			2	1578	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	UPI000004F638	408					SNV	KCNA7,missense_variant,p.Glu408Lys,ENST00000221444,NM_031886.2;	uc002pmg.2	c.1222G>A	1578/4372	2	2			c.1222G>A						19	SNP	c.(1222-1224)GAA>AAA	45	45			central_nervous_system(1)	1	Broad	potassium voltage-gated channel, shaker-related			49573469		0.597	ENSG00000104848	7871	g.chr19:49573469C>T		voltage-gated potassium channel complex	voltage-gated potassium channel activity	Colon(74;686 1235 3793 23366 48562)			Colon(74;686 1235 3793 23366 48562)			55.575823	KEEP	11	14	-1	25	29	11	14	-1	58.005949	25	29	0.298507	1	0	0	0	0	1	0	0	0	--	--		0	T				254	GBM-41-3392-TP	p.E408K	C	CCAGCCTCTTCGCCCTCTGTC	NM_031886	NP_114092	49573469	Q96RP8	KCNA7_HUMAN	0		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	2	1578	-	T	T		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	Missense_Mutation	408						
KCNAB1	0	broad.mit.edu	GRCh37	3	155838668	155838668	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2494-01	TCGA-32-2494-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000490337.1:c.268C>T	p.Pro90Ser	p.P90S	ENST00000490337	NM_172160.2	90	Ccg/Tcg	0			1			T	P/S	uc003far.2	protein_coding	YES	CCDS3174.1			268/1260									ovary(3)|skin(1)	4	c.(268-270)CCG>TCG			hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF127,TIGRFAM_domain:TIGR01293,Gene3D:3.20.20.100,Superfamily_domains:SSF51430	potassium voltage-gated channel, shaker-related				ENSP00000419952		14-Jan									COSM3408380	14-Jan	.		ENST00000490337	Transcript				cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	ENSG00000169282	g.chr3:155838668C>T	6228			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=KCAB1_HUMAN&rb=70&re=102&var=P90S	NA	getma.org/?cm=var&var=hg19,3,155838668,C,T&fts=all	P90S	--	--	1																																		KCNAB1_uc011bon.1_Missense_Mutation_p.P90S	1	1		benign(0.007)	p.P90S	NM_172160	NP_751892		tolerated(0.33)	1	KCAB1_HUMAN	KCNAB1	HGNC	Q14722	KCAB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		B7Z435_HUMAN		1	332	+			UPI000012E169	90					SNV	KCNAB1,missense_variant,p.Pro90Ser,ENST00000490337,NM_172160.2;KCNAB1,missense_variant,p.Pro90Ser,ENST00000389636,;KCNAB1,intron_variant,,ENST00000472028,;KCNAB1,intron_variant,,ENST00000477912,;KCNAB1,intron_variant,,ENST00000478609,;	uc003far.2	c.268C>T	332/3122	1	1			c.268C>T						3	SNP	c.(268-270)CCG>TCG	8	8			ovary(3)|skin(1)	4	Broad	potassium voltage-gated channel, shaker-related			155838668		0.592	ENSG00000169282	7872	g.chr3:155838668C>T		cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity							-11.636142	KEEP	0	3	-1	35	54	0	3	-1	6.59556	35	54	0.037975	1	0	0	0	0	1	0	0	0	--	--		0	T			KCNAB1_uc011bon.1_Missense_Mutation_p.P90S	236	GBM-32-2494-TP	p.P90S	C	CACAGGCATGCCGCACAGGTA	NM_172160	NP_751892	155838668	Q14722	KCAB1_HUMAN	0	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		1	332	+	T	T			Missense_Mutation	90						
KCNB1	0	broad.mit.edu	GRCh37	20	47989844	47989844	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-28-6450-01	TCGA-28-6450-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371741.4:c.2253T>G	p.Gly751=	p.G751=	ENST00000371741	NM_004975.2	751	ggT/ggG	0			1			C	G	uc002xur.1	protein_coding	YES	CCDS13418.1			2253/2577									pancreas(1)|skin(1)	2	c.(2251-2253)GGT>GGG				potassium voltage-gated channel, Shab-related				ENSP00000360806		2-Feb	0.00189	0.000387	8.66E-05	0.000822	0.025	0.000557	0.00449	6.07E-05	rs756318190,COSM357877	2-Feb	common_variant		ENST00000371741	Transcript	1		energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	ENSG00000158445	g.chr20:47989844A>C	6231			LOW								--	--	1																																		KCNB1_uc002xus.1_Silent_p.G751G	0,1	1			p.G751G	NM_004975	NP_004966			0,1	KCNB1_HUMAN	KCNB1	HGNC	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)				2	2417	-			UPI000012DC80	751			Cytoplasmic (Potential).		SNV	KCNB1,synonymous_variant,p.=,ENST00000371741,NM_004975.2;	uc002xur.1	c.2253T>G	2420/11850	3	3			c.2253T>G						20	SNP	c.(2251-2253)GGT>GGG	49	49			pancreas(1)|skin(1)	2	Broad	potassium voltage-gated channel, Shab-related			47989844		0.572	ENSG00000158445	7875	g.chr20:47989844A>C	energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity							-27.949858	KEEP	36	43	-1	108	97	36	43	-1	7.403295	108	97	0.087179	1	0	0	0	0	0	0	1	0	--	--		0	C			KCNB1_uc002xus.1_Silent_p.G751G	227	GBM-28-6450-TP	p.G751G	A	ACTGGTGGACACCCGCCTCAA	NM_004975	NP_004966	47989844	Q14721	KCNB1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	2417	-	C	C			Silent	751			Cytoplasmic (Potential).			
KCNB1	0	broad.mit.edu	GRCh37	20	48098546	48098546	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1986-01	TCGA-32-1986-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371741.4:c.472C>T	p.Arg158Trp	p.R158W	ENST00000371741	NM_004975.2	158	Cgg/Tgg	0			1			A	R/W	uc002xur.1	protein_coding	YES	CCDS13418.1			472/2577									pancreas(1)|skin(1)	2	c.(472-474)CGG>TGG			hmmpanther:PTHR11537:SF63,hmmpanther:PTHR11537,Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	potassium voltage-gated channel, Shab-related				ENSP00000360806		2-Jan									COSM3405177	2-Jan	.		ENST00000371741	Transcript	1		energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	ENSG00000158445	g.chr20:48098546G>A	6231			MODERATE		2.05	medium	getma.org/?cm=msa&ty=f&p=KCNB1_HUMAN&rb=133&re=230&var=R158W	getma.org/pdb.php?prot=KCNB1_HUMAN&from=133&to=230&var=R158W	getma.org/?cm=var&var=hg19,20,48098546,G,A&fts=all	R158W	--	--	1																																		KCNB1_uc002xus.1_Missense_Mutation_p.R158W	1	1		probably_damaging(0.971)	p.R158W	NM_004975	NP_004966		deleterious(0)	1	KCNB1_HUMAN	KCNB1	HGNC	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)				1	636	-			UPI000012DC80	158			Cytoplasmic (Potential).		SNV	KCNB1,missense_variant,p.Arg158Trp,ENST00000371741,NM_004975.2;	uc002xur.1	c.472C>T	639/11850	2	2			c.472C>T						20	SNP	c.(472-474)CGG>TGG	26	26			pancreas(1)|skin(1)	2	Broad	potassium voltage-gated channel, Shab-related			48098546		0.582	ENSG00000158445	7875	g.chr20:48098546G>A	energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity							128.013063	KEEP	23	32	-1	73	75	23	32	-1	136.146745	73	75	0.276243	1	0	0	0	0	1	0	0	0	--	--		0	A			KCNB1_uc002xus.1_Missense_Mutation_p.R158W	233	GBM-32-1986-TP	p.R158W	G	TCGCCTTCCCGCTCCCGTAGG	NM_004975	NP_004966	48098546	Q14721	KCNB1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		1	636	-	A	A			Missense_Mutation	158			Cytoplasmic (Potential).			
KCNB1	0	broad.mit.edu	GRCh37	20	48098620	48098620	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01	TCGA-76-4928-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371741.4:c.398G>A	p.Cys133Tyr	p.C133Y	ENST00000371741	NM_004975.2	133	tGc/tAc	0			1			T	C/Y	uc002xur.1	protein_coding	YES	CCDS13418.1			398/2577									pancreas(1)|skin(1)	2	c.(397-399)TGC>TAC			Prints_domain:PR01495,Superfamily_domains:SSF54695,SMART_domains:SM00225,Gene3D:3.30.710.10,hmmpanther:PTHR11537:SF63,hmmpanther:PTHR11537	potassium voltage-gated channel, Shab-related				ENSP00000360806		2-Jan									COSM3405178	2-Jan	.		ENST00000371741	Transcript	1		energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	ENSG00000158445	g.chr20:48098620C>T	6231			MODERATE		3.185	medium	getma.org/?cm=msa&ty=f&p=KCNB1_HUMAN&rb=133&re=230&var=C133Y	NA	getma.org/?cm=var&var=hg19,20,48098620,C,T&fts=all	C133Y	--	--	1																																		KCNB1_uc002xus.1_Missense_Mutation_p.C133Y	1	1		probably_damaging(0.999)	p.C133Y	NM_004975	NP_004966		deleterious(0)	1	KCNB1_HUMAN	KCNB1	HGNC	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)				1	562	-			UPI000012DC80	133			Cytoplasmic (Potential).		SNV	KCNB1,missense_variant,p.Cys133Tyr,ENST00000371741,NM_004975.2;	uc002xur.1	c.398G>A	565/11850	2	2			c.398G>A						20	SNP	c.(397-399)TGC>TAC	42	42			pancreas(1)|skin(1)	2	Broad	potassium voltage-gated channel, Shab-related			48098620		0.607	ENSG00000158445	7875	g.chr20:48098620C>T	energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity							11.232762	KEEP	10	7	-1	75	69	10	7	-1	30.675634	75	69	0.113636	1	0	0	0	0	1	0	0	0	--	--		0	T			KCNB1_uc002xus.1_Missense_Mutation_p.C133Y	268	GBM-76-4928-TP	p.C133Y	C	GCGGGCCTGGCAGCAGGACTC	NM_004975	NP_004966	48098620	Q14721	KCNB1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		1	562	-	T	T			Missense_Mutation	133			Cytoplasmic (Potential).			
KCNB2	9312	broad.mit.edu	GRCh37	8	73848476	73848476	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01	TCGA-06-0122-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000523207.1:c.886G>A	p.Val296Met	p.V296M	ENST00000523207	NM_004770.2	296	Gtg/Atg	0			1			A	V/M	uc003xzb.2	protein_coding	YES	CCDS6209.1			886/2736									skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	c.(886-888)GTG>ATG			Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF110,Superfamily_domains:SSF81324	potassium voltage-gated channel, Shab-related				ENSP00000430846		3-Mar	8.24E-06							6.06E-05	rs750005116,COSM454827	3-Mar	.		ENST00000523207	Transcript			regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	ENSG00000182674	g.chr8:73848476G>A	6232			MODERATE		0.945	low	getma.org/?cm=msa&ty=f&p=KCNB2_HUMAN&rb=235&re=416&var=V296M	getma.org/pdb.php?prot=KCNB2_HUMAN&from=235&to=416&var=V296M	getma.org/?cm=var&var=hg19,8,73848476,G,A&fts=all	V296M	--	--	1																																			0,1	1		possibly_damaging(0.903)	p.V296M	NM_004770	NP_004761		tolerated(0.12)	0,1	KCNB2_HUMAN	KCNB2	HGNC	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)				3	1474	+	Breast(64;0.137)		UPI000012DC85	296					SNV	KCNB2,missense_variant,p.Val296Met,ENST00000523207,NM_004770.2;	uc003xzb.2	c.886G>A	1474/3582	2	2			c.886G>A						8	SNP	c.(886-888)GTG>ATG	45	45			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Broad	potassium voltage-gated channel, Shab-related			73848476		0.527	ENSG00000182674	7876	g.chr8:73848476G>A	regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding							83.417974	KEEP	9	18	-1	9	9	9	18	-1	83.808829	9	9	0.6	1	0	0	0	0	1	0	0	0	--	--		0	A				10	GBM-06-0122-TP	p.V296M	G	GTTCCAAAACGTGAGGCGCGT	NM_004770	NP_004761	73848476	Q92953	KCNB2_HUMAN	0	Epithelial(68;0.105)		3	1474	+	A	A	Breast(64;0.137)		Missense_Mutation	296						
KCNB2	9312	broad.mit.edu	GRCh37	8	73848725	73848725	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0650-01	TCGA-06-0650-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000523207.1:c.1135A>G	p.Met379Val	p.M379V	ENST00000523207	NM_004770.2	379	Atg/Gtg	0			1			G	M/V	uc003xzb.2	protein_coding	YES	CCDS6209.1			1135/2736									skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	c.(1135-1137)ATG>GTG			Gene3D:1.10.287.70,Pfam_domain:PF00520,Prints_domain:PR00169,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF110,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix	potassium voltage-gated channel, Shab-related				ENSP00000430846		3-Mar									COSM3413109	3-Mar	.		ENST00000523207	Transcript			regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	ENSG00000182674	g.chr8:73848725A>G	6232			MODERATE		2.135	medium	getma.org/?cm=msa&ty=f&p=KCNB2_HUMAN&rb=235&re=416&var=M379V	getma.org/pdb.php?prot=KCNB2_HUMAN&from=235&to=416&var=M379V	getma.org/?cm=var&var=hg19,8,73848725,A,G&fts=all	M379V	--	--	1																																			1	1		probably_damaging(0.993)	p.M379V	NM_004770	NP_004761		deleterious(0)	1	KCNB2_HUMAN	KCNB2	HGNC	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)				3	1723	+	Breast(64;0.137)		UPI000012DC85	379					SNV	KCNB2,missense_variant,p.Met379Val,ENST00000523207,NM_004770.2;	uc003xzb.2	c.1135A>G	1723/3582	4	4			c.1135A>G						8	SNP	c.(1135-1137)ATG>GTG	29	29			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Broad	potassium voltage-gated channel, Shab-related			73848725		0.448	ENSG00000182674	7876	g.chr8:73848725A>G	regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding							14.791261	KEEP	4	12	-1	64	84	4	12	-1	38.334608	64	84	0.105263	1	0	0	0	0	1	0	0	0	--	--		0	G				63	GBM-06-0650-TP	p.M379V	A	CACCATCACCATGACCACTGT	NM_004770	NP_004761	73848725	Q92953	KCNB2_HUMAN	0	Epithelial(68;0.105)		3	1723	+	G	G	Breast(64;0.137)		Missense_Mutation	379						
KCNB2	9312	broad.mit.edu	GRCh37	8	73848914	73848914	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0749-01	TCGA-06-0749-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000523207.1:c.1324C>T	p.Arg442Trp	p.R442W	ENST00000523207	NM_004770.2	442	Cgg/Tgg	0			1			T	R/W	uc003xzb.2	protein_coding	YES	CCDS6209.1			1324/2736									skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	c.(1324-1326)CGG>TGG			hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF110	potassium voltage-gated channel, Shab-related				ENSP00000430846		3-Mar	8.24E-06			0.000116					rs750665772,COSM2151912	3-Mar	.		ENST00000523207	Transcript			regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	ENSG00000182674	g.chr8:73848914C>T	6232			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=KCNB2_HUMAN&rb=417&re=470&var=R442W	NA	getma.org/?cm=var&var=hg19,8,73848914,C,T&fts=all	R442W	--	--	1																																			0,1	1		probably_damaging(0.997)	p.R442W	NM_004770	NP_004761		deleterious(0)	0,1	KCNB2_HUMAN	KCNB2	HGNC	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)				3	1912	+	Breast(64;0.137)		UPI000012DC85	442			Cytoplasmic (Potential).		SNV	KCNB2,missense_variant,p.Arg442Trp,ENST00000523207,NM_004770.2;	uc003xzb.2	c.1324C>T	1912/3582	1	1			c.1324C>T						8	SNP	c.(1324-1326)CGG>TGG	3	3			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Broad	potassium voltage-gated channel, Shab-related			73848914		0.443	ENSG00000182674	7876	g.chr8:73848914C>T	regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding							130.205913	KEEP	30	22	-1	69	56	30	22	-1	136.5878	69	56	0.293413	1	0	0	0	0	1	0	0	0	--	--		0	T				69	GBM-06-0749-TP	p.R442W	C	GGCTCTTGAGCGGGCCAAAAG	NM_004770	NP_004761	73848914	Q92953	KCNB2_HUMAN	0	Epithelial(68;0.105)		3	1912	+	T	T	Breast(64;0.137)		Missense_Mutation	442			Cytoplasmic (Potential).			
KCNB2	9312	broad.mit.edu	GRCh37	8	73848231	73848231	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5414-01	TCGA-06-5414-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000523207.1:c.641C>T	p.Thr214Met	p.T214M	ENST00000523207	NM_004770.2	214	aCg/aTg	0			1			T	T/M	uc003xzb.2	protein_coding	YES	CCDS6209.1			641/2736									skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	c.(640-642)ACG>ATG			Gene3D:1.10.287.70,Prints_domain:PR00169,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF110,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix	potassium voltage-gated channel, Shab-related				ENSP00000430846		3-Mar									COSM1211425	3-Mar	.		ENST00000523207	Transcript			regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	ENSG00000182674	g.chr8:73848231C>T	6232			MODERATE		3.79	high	getma.org/?cm=msa&ty=f&p=KCNB2_HUMAN&rb=137&re=234&var=T214M	getma.org/pdb.php?prot=KCNB2_HUMAN&from=137&to=234&var=T214M	getma.org/?cm=var&var=hg19,8,73848231,C,T&fts=all	T214M	--	--	1																																			1	1		probably_damaging(0.997)	p.T214M	NM_004770	NP_004761		deleterious(0)	1	KCNB2_HUMAN	KCNB2	HGNC	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)				3	1229	+	Breast(64;0.137)		UPI000012DC85	214					SNV	KCNB2,missense_variant,p.Thr214Met,ENST00000523207,NM_004770.2;	uc003xzb.2	c.641C>T	1229/3582	2	2			c.641C>T						8	SNP	c.(640-642)ACG>ATG	32	32			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Broad	potassium voltage-gated channel, Shab-related			73848231		0.478	ENSG00000182674	7876	g.chr8:73848231C>T	regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding							251.646836	KEEP	46	49	-1	64	76	46	49	-1	253.572451	64	76	0.4	1	0	0	0	0	1	0	0	0	--	--		0	T				97	GBM-06-5414-TP	p.T214M	C	TCTCTCAATACGCTGCCGGAG	NM_004770	NP_004761	73848231	Q92953	KCNB2_HUMAN	0	Epithelial(68;0.105)		3	1229	+	T	T	Breast(64;0.137)		Missense_Mutation	214						
KCNB2	9312		GRCh37	8	73849104	73849104	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000523207.1:c.1514A>T	p.Asn505Ile	p.N505I	ENST00000523207	NM_004770.2	505	aAc/aTc	0																																																																																																																																																																																																																																												
KCNC1	0	broad.mit.edu	GRCh37	11	17757795	17757795	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-12-0821-01	TCGA-12-0821-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379472.3:c.246G>T	p.Val82=	p.V82=	ENST00000379472	NM_004976.4	82	gtG/gtT	0			1			T	V	uc001mnk.3	protein_coding		CCDS7827.1			246/1536									upper_aerodigestive_tract(1)	1	c.(244-246)GTG>GTT			Gene3D:3.30.710.10,Pfam_domain:PF02214,Prints_domain:PR01498,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF87,SMART_domains:SM00225,Superfamily_domains:SSF54695	Shaw-related voltage-gated potassium channel				ENSP00000368785		2-Jan									COSM3397591,COSM3397590	2-Jan	.		ENST00000379472	Transcript	1			voltage-gated potassium channel complex	voltage-gated potassium channel activity	ENSG00000129159	g.chr11:17757795G>T	6233			LOW								--	--	1																																		KCNC1_uc009yhc.1_Silent_p.V82V	1,1				p.V82V	NM_004976	NP_004967			1,1	KCNC1_HUMAN	KCNC1	HGNC	P48547	KCNC1_HUMAN					1	301	+			UPI00000557DB	82			Cytoplasmic (Potential).		SNV	KCNC1,synonymous_variant,p.=,ENST00000379472,NM_004976.4;KCNC1,synonymous_variant,p.=,ENST00000265969,NM_001112741.1;	uc001mnk.3	c.246G>T	276/6766	2	2			c.246G>T						11	SNP	c.(244-246)GTG>GTT	25	25			upper_aerodigestive_tract(1)	1	Broad	Shaw-related voltage-gated potassium channel			17757795		0.677	ENSG00000129159	7877	g.chr11:17757795G>T		voltage-gated potassium channel complex	voltage-gated potassium channel activity							2.961347	KEEP	7	5	0.583333333	65	55	7	5	0.583333333	22.562851	65	55	0.087719	1	0	0	0	0	0	0	1	0	--	--		0	T			KCNC1_uc009yhc.1_Silent_p.V82V	123	GBM-12-0821-TP	p.V82V	G	CAGCCGACGTGTGCGGGCCGC	NM_004976	NP_004967	17757795	P48547	KCNC1_HUMAN	0			1	301	+	T	T			Silent	82			Cytoplasmic (Potential).			
KCNC2	3747	broad.mit.edu	GRCh37	12	75441962	75441962	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01	TCGA-06-2567-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000549446.1:c.1751C>T	p.Thr584Met	p.T584M	ENST00000549446	NM_001260497.1	584	aCg/aTg	0			1			A	T/M	uc001sxg.1	protein_coding	YES	CCDS9007.1			1751/1917									breast(2)|pancreas(2)|skin(1)|lung(1)	6	c.(1750-1752)ACG>ATG				Shaw-related voltage-gated potassium channel				ENSP00000449253		5-Apr									COSM2153095,COSM2153094,COSM2153093	5-Apr	.		ENST00000549446	Transcript			energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	ENSG00000166006	g.chr12:75441962G>A	6234			MODERATE		1.525	low	getma.org/?cm=msa&ty=f&p=KCNC2_HUMAN&rb=473&re=638&var=T584M	NA	getma.org/?cm=var&var=hg19,12,75441962,G,A&fts=all	T584M	--	--	1																																		KCNC2_uc009zry.2_Missense_Mutation_p.T584M|KCNC2_uc001sxe.2_Missense_Mutation_p.T584M|KCNC2_uc001sxf.2_Intron|KCNC2_uc010stw.1_Intron	1,1,1	1		possibly_damaging(0.836)	p.T584M	NM_139137	NP_631875		deleterious_low_confidence(0.01)	1,1,1	KCNC2_HUMAN	KCNC2	HGNC	Q96PR1	KCNC2_HUMAN					4	2295	-			UPI000004DB9B	584			Cytoplasmic (Potential).		SNV	KCNC2,missense_variant,p.Thr584Met,ENST00000549446,NM_001260497.1,NM_139137.3;KCNC2,missense_variant,p.Thr584Met,ENST00000298972,NM_139136.3;KCNC2,missense_variant,p.Thr584Met,ENST00000341669,NM_001260498.1;KCNC2,missense_variant,p.Thr584Met,ENST00000548513,;KCNC2,missense_variant,p.Thr584Met,ENST00000550433,;KCNC2,missense_variant,p.Thr584Met,ENST00000393288,;KCNC2,intron_variant,,ENST00000350228,NM_001260499.1,NM_153748.2;KCNC2,intron_variant,,ENST00000540018,;RP11-81K13.1,downstream_gene_variant,,ENST00000547040,;RP11-81K13.1,downstream_gene_variant,,ENST00000550049,;KCNC2,downstream_gene_variant,,ENST00000548243,;KCNC2,downstream_gene_variant,,ENST00000546456,;	uc001sxg.1	c.1751C>T	2432/5625	1	1			c.1751C>T						12	SNP	c.(1750-1752)ACG>ATG	52	52			breast(2)|pancreas(2)|skin(1)|lung(1)	6	Broad	Shaw-related voltage-gated potassium channel			75441962		0.448	ENSG00000166006	7878	g.chr12:75441962G>A	energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity							459.411483	KEEP	76	107	-1	136	145	76	107	-1	464.185552	136	145	0.382872	1	0	0	0	0	1	0	0	0	--	--		0	A			KCNC2_uc009zry.2_Missense_Mutation_p.T584M|KCNC2_uc001sxe.2_Missense_Mutation_p.T584M|KCNC2_uc001sxf.2_Intron|KCNC2_uc010stw.1_Intron	89	GBM-06-2567-TP	p.T584M	G	AGAAGCACACGTGTAATCACC	NM_139137	NP_631875	75441962	Q96PR1	KCNC2_HUMAN	0			4	2295	-	A	A			Missense_Mutation	584			Cytoplasmic (Potential).			
KCNC2	0	broad.mit.edu	GRCh37	12	75601221	75601221	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5950-01	TCGA-19-5950-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000549446.1:c.543C>T	p.Asp181=	p.D181=	ENST00000549446	NM_001260497.1	181	gaC/gaT	0			1			A	D	uc001sxg.1	protein_coding	YES	CCDS9007.1			543/1917									breast(2)|pancreas(2)|skin(1)|lung(1)	6	c.(541-543)GAC>GAT			hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF48	Shaw-related voltage-gated potassium channel				ENSP00000449253		5-Feb									COSM3399103,COSM3399102,COSM3399101	5-Feb	.		ENST00000549446	Transcript			energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	ENSG00000166006	g.chr12:75601221G>A	6234			LOW								--	--	1																																		KCNC2_uc009zry.2_Silent_p.D181D|KCNC2_uc001sxe.2_Silent_p.D181D|KCNC2_uc001sxf.2_Silent_p.D181D|KCNC2_uc010stw.1_Silent_p.D181D	1,1,1	1			p.D181D	NM_139137	NP_631875			1,1,1	KCNC2_HUMAN	KCNC2	HGNC	Q96PR1	KCNC2_HUMAN					2	1087	-			UPI000004DB9B	181			Cytoplasmic (Potential).		SNV	KCNC2,synonymous_variant,p.=,ENST00000549446,NM_001260497.1,NM_139137.3;KCNC2,synonymous_variant,p.=,ENST00000298972,NM_139136.3;KCNC2,synonymous_variant,p.=,ENST00000341669,NM_001260498.1;KCNC2,synonymous_variant,p.=,ENST00000350228,NM_001260499.1,NM_153748.2;KCNC2,synonymous_variant,p.=,ENST00000548513,;KCNC2,synonymous_variant,p.=,ENST00000550433,;KCNC2,synonymous_variant,p.=,ENST00000393288,;KCNC2,synonymous_variant,p.=,ENST00000540018,;	uc001sxg.1	c.543C>T	1224/5625	1	1			c.543C>T						12	SNP	c.(541-543)GAC>GAT	60	60			breast(2)|pancreas(2)|skin(1)|lung(1)	6	Broad	Shaw-related voltage-gated potassium channel			75601221		0.726	ENSG00000166006	7878	g.chr12:75601221G>A	energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity							7.419734	KEEP	1	2	-1	5	4	1	2	-1	7.642275	5	4	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	A			KCNC2_uc009zry.2_Silent_p.D181D|KCNC2_uc001sxe.2_Silent_p.D181D|KCNC2_uc001sxf.2_Silent_p.D181D|KCNC2_uc010stw.1_Silent_p.D181D	170	GBM-19-5950-TP	p.D181D	G	GGTCCTCGTCGTCGCCGGGGT	NM_139137	NP_631875	75601221	Q96PR1	KCNC2_HUMAN	0			2	1087	-	A	A			Silent	181			Cytoplasmic (Potential).			
KCNC4	0	broad.mit.edu	GRCh37	1	110754401	110754403	+	inframe_deletion	In_Frame_Del	DEL	TTC	TTC	-			TCGA-14-1034-01	TCGA-14-1034-01	TTC	TTC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369787.3:c.286_288delTTC	p.Phe96del	p.F96del	ENST00000369787	NM_004978.4	94	TTC/-	0			1			-	F/-	uc001dzh.2	protein_coding	YES	CCDS821.1			280-282/1908									large_intestine(1)|ovary(1)|central_nervous_system(1)	3	c.(280-282)TTCdel			Gene3D:3.30.710.10,Pfam_domain:PF02214,Prints_domain:PR00169,Prints_domain:PR01491,Prints_domain:PR01498,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF126,SMART_domains:SM00225,Superfamily_domains:SSF54695	Shaw-related voltage-gated potassium channel				ENSP00000358802		4-Jan	1.65E-05			0.000122		1.69E-05			rs763975228	4-Jan	.		ENST00000369787	Transcript			synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	ENSG00000116396	g.chr1:110754401_110754403delTTC	6236	6		MODERATE								--	--	1																																		KCNC4_uc001dzf.2_In_Frame_Del_p.F96del|KCNC4_uc009wfr.2_In_Frame_Del_p.F96del|KCNC4_uc001dzg.2_In_Frame_Del_p.F96del|KCNC4_uc001dzi.2_RNA		1			p.F96del	NM_004978	NP_004969				KCNC4_HUMAN	KCNC4	HGNC	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)			1	337_339	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	UPI000013CAC8	96			Cytoplasmic (Potential).		deletion	KCNC4,inframe_deletion,p.Phe96del,ENST00000369787,NM_004978.4;KCNC4,inframe_deletion,p.Phe96del,ENST00000413138,;KCNC4,inframe_deletion,p.Phe96del,ENST00000438661,NM_001039574.2;KCNC4-AS1,upstream_gene_variant,,ENST00000455967,;KCNC4,upstream_gene_variant,,ENST00000412512,;KCNC4,inframe_deletion,p.Phe96del,ENST00000469655,;KCNC4,non_coding_transcript_exon_variant,,ENST00000489935,;	uc001dzh.2	c.280_282delTTC	307-309/3670	5	5			c.280_282delTTC						1	DEL	c.(280-282)TTCdel	39	39			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Broad	Shaw-related voltage-gated potassium channel			110754403		0.537	ENSG00000116396	7880	g.chr1:110754401_110754403delTTC	synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity																				0.37	1	1	0	1	0	0	0	0	0	--	--		0	-			KCNC4_uc001dzf.2_In_Frame_Del_p.F96del|KCNC4_uc009wfr.2_In_Frame_Del_p.F96del|KCNC4_uc001dzg.2_In_Frame_Del_p.F96del|KCNC4_uc001dzi.2_RNA	142	GBM-14-1034-TP	p.F96del	TTC	gggctgcgAGTTCTTCTTCGACA	NM_004978	NP_004969	110754401	Q03721	KCNC4_HUMAN	0		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	337_339	+	-	-		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	In_Frame_Del	96			Cytoplasmic (Potential).			
KCND1	0	broad.mit.edu	GRCh37	X	48822565	48822565	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0786-01	TCGA-14-0786-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000218176.3:c.1615C>T	p.Arg539Cys	p.R539C	ENST00000218176	NM_004979.4	539	Cgc/Tgc	0			1			A	R/C	uc004dlx.1	protein_coding	YES	CCDS14314.1			1615/1944									ovary(2)|lung(1)	3	c.(1615-1617)CGC>TGC			Pfam_domain:PF11879	potassium voltage-gated channel, Shal-related				ENSP00000218176		6-May	8.24E-06					2.40E-05			rs782465232,COSM3406431	6-May	.		ENST00000218176	Transcript				voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity	ENSG00000102057	g.chrX:48822565G>A	6237			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=KCND1_HUMAN&rb=447&re=551&var=R539C	NA	getma.org/?cm=var&var=hg19,X,48822565,G,A&fts=all	R539C	--	--	1																																		KCND1_uc004dlw.1_Missense_Mutation_p.R162C	0,1	1		probably_damaging(0.932)	p.R539C	NM_004979	NP_004970		deleterious_low_confidence(0)	0,1	KCND1_HUMAN	KCND1	HGNC	Q9NSA2	KCND1_HUMAN			A6NEF1_HUMAN		5	3188	-			UPI000000DB05	539			Cytoplasmic (Potential).		SNV	KCND1,missense_variant,p.Arg539Cys,ENST00000218176,NM_004979.4;KCND1,missense_variant,p.Arg162Cys,ENST00000376477,;KCND1,missense_variant,p.Arg111Cys,ENST00000419374,;	uc004dlx.1	c.1615C>T	2913/4437	2	2			c.1615C>T						23	SNP	c.(1615-1617)CGC>TGC	34	34			ovary(2)|lung(1)	3	Broad	potassium voltage-gated channel, Shal-related			48822565		0.682	ENSG00000102057	7881	g.chrX:48822565G>A		voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity							36.062125	KEEP	6	8	-1	11	16	6	8	-1	36.845031	11	16	0.35	1	0	0	0	0	1	0	0	0	--	--		0	A			KCND1_uc004dlw.1_Missense_Mutation_p.R162C	134	GBM-14-0786-TP	p.R539C	G	ATGGCGCGGCGCTTGGCCCTG	NM_004979	NP_004970	48822565	Q9NSA2	KCND1_HUMAN	0			5	3188	-	A	A			Missense_Mutation	539			Cytoplasmic (Potential).			
KCND1	3750		GRCh37	X	48819889	48819889	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000218176.3:c.1897G>A	p.Gly633Ser	p.G633S	ENST00000218176	NM_004979.4	633	Ggt/Agt	0																																																																																																																																																																																																																																												
KCND2	3751	broad.mit.edu	GRCh37	7	120386073	120386073	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-0650-01	TCGA-06-0650-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331113.4:c.1707G>T	p.Leu569=	p.L569=	ENST00000331113	NM_012281.2	569	ctG/ctT	0			1			T	L	uc003vjj.1	protein_coding	YES	CCDS5776.1			1707/1893									ovary(2)|central_nervous_system(2)|skin(1)	5	c.(1705-1707)CTG>CTT			Prints_domain:PR01517	potassium voltage-gated channel, Shal-related				ENSP00000333496		6-May									COSM3411522	6-May	.		ENST00000331113	Transcript			regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	ENSG00000184408	g.chr7:120386073G>T	6238			LOW								--	--	1																																			1	1			p.L569L	NM_012281	NP_036413			1	KCND2_HUMAN	KCND2	HGNC	Q9NZV8	KCND2_HUMAN			A4D0V9_HUMAN,Q75LS7_HUMAN		5	2672	+	all_neural(327;0.117)		UPI0000073D37	569			Cytoplasmic (Potential).		SNV	KCND2,synonymous_variant,p.=,ENST00000331113,NM_012281.2;KCND2,synonymous_variant,p.=,ENST00000425288,;RP4-797C5.2,downstream_gene_variant,,ENST00000450480,;KCND2,non_coding_transcript_exon_variant,,ENST00000473190,;	uc003vjj.1	c.1707G>T	2672/5331	1	1			c.1707G>T						7	SNP	c.(1705-1707)CTG>CTT	3	3			ovary(2)|central_nervous_system(2)|skin(1)	5	Broad	potassium voltage-gated channel, Shal-related			120386073		0.443	ENSG00000184408	7882	g.chr7:120386073G>T	regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding							-1.412498	KEEP	1	2	0.333333333	26	21	1	2	0.333333333	7.076726	26	21	0.068182	1	0	0	0	0	0	0	1	0	--	--		0	T				63	GBM-06-0650-TP	p.L569L	G	GAACACCTCTGTCTAACAGGT	NM_012281	NP_036413	120386073	Q9NZV8	KCND2_HUMAN	0			5	2672	+	T	T	all_neural(327;0.117)		Silent	569			Cytoplasmic (Potential).			
KCND2	3751		GRCh37	7	119915031	119915031	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000331113.4:c.345C>T	p.Tyr115=	p.Y115=	ENST00000331113	NM_012281.2	115	taC/taT	0																																																																																																																																																																																																																																												
KCND3	3752	broad.mit.edu	GRCh37	1	112524445	112524445	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6388-01	TCGA-06-6388-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315987.2:c.904C>T	p.Arg302Cys	p.R302C	ENST00000315987	NM_004980.4	302	Cgc/Tgc	0			1			A	R/C	uc001ebu.1	protein_coding	YES	CCDS843.1			904/1968									ovary(2)|large_intestine(1)	3	c.(904-906)CGC>TGC			Gene3D:1.20.120.350,Pfam_domain:PF00520,Prints_domain:PR00169,Prints_domain:PR01491,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF17,Superfamily_domains:SSF81324	potassium voltage-gated channel, Shal-related				ENSP00000319591		8-Feb									COSM3399539,COSM3399538	8-Feb	.		ENST00000315987	Transcript	1			sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	ENSG00000171385	g.chr1:112524445G>A	6239			MODERATE		4.45	high	getma.org/?cm=msa&ty=f&p=KCND3_HUMAN&rb=228&re=402&var=R302C	getma.org/pdb.php?prot=KCND3_HUMAN&from=228&to=402&var=R302C	getma.org/?cm=var&var=hg19,1,112524445,G,A&fts=all	R302C	--	--	1																																		KCND3_uc001ebv.1_Missense_Mutation_p.R302C	1,1	1		possibly_damaging(0.898)	p.R302C	NM_004980	NP_004971		deleterious(0)	1,1	KCND3_HUMAN	KCND3	HGNC	Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)			2	1384	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	UPI000003050A	302			Helical; Voltage-sensor; Name=Segment S4; (Potential).		SNV	KCND3,missense_variant,p.Arg302Cys,ENST00000369697,;KCND3,missense_variant,p.Arg302Cys,ENST00000315987,NM_004980.4;KCND3,missense_variant,p.Arg302Cys,ENST00000302127,NM_172198.2;	uc001ebu.1	c.904C>T	1384/2716	1	1			c.904C>T						1	SNP	c.(904-906)CGC>TGC	61	61			ovary(2)|large_intestine(1)	3	Broad	potassium voltage-gated channel, Shal-related			112524445		0.582	ENSG00000171385	7883	g.chr1:112524445G>A		sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding							78.308964	KEEP	18	18	-1	26	33	18	18	-1	79.023093	26	33	0.391304	1	0	0	0	0	1	0	0	0	--	--		0	A			KCND3_uc001ebv.1_Missense_Mutation_p.R302C	104	GBM-06-6388-TP	p.R302C	G	TGGGAGTGGCGGGAAAACTTG	NM_004980	NP_004971	112524445	Q9UK17	KCND3_HUMAN	0		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	2	1384	-	A	A		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	Missense_Mutation	302			Helical; Voltage-sensor; Name=Segment S4; (Potential).			
KCNE1	0	broad.mit.edu	GRCh37	21	35821746	35821746	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-2629-01	TCGA-19-2629-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337385.3:c.187C>A	p.Leu63Met	p.L63M	ENST00000337385	NM_001270403.1	63	Ctg/Atg	0			1			T	L/M	uc010gmp.2	protein_coding	YES	CCDS13636.1			187/390									ovary(2)	2	c.(187-189)CTG>ATG			Pfam_domain:PF02060,Prints_domain:PR00168,hmmpanther:PTHR17028,hmmpanther:PTHR17028:SF3,Transmembrane_helices:TMhelix	potassium voltage-gated channel, Isk-related	Indapamide(DB00808)			ENSP00000337255		3-Mar									COSM2156312	3-Mar	.		ENST00000337385	Transcript	1		blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity	ENSG00000180509	g.chr21:35821746G>T	6240			MODERATE		2.78	medium	getma.org/?cm=msa&ty=f&p=KCNE1_HUMAN&rb=1&re=129&var=L63M	getma.org/pdb.php?prot=KCNE1_HUMAN&from=1&to=129&var=L63M	getma.org/?cm=var&var=hg19,21,35821746,G,T&fts=all	L63M	--	--	1																																		KCNE1_uc002ytz.2_Missense_Mutation_p.L63M|KCNE1_uc010gmq.2_Missense_Mutation_p.L63M|KCNE1_uc010gmr.2_Missense_Mutation_p.L63M|KCNE1_uc010gms.2_Missense_Mutation_p.L63M|KCNE1_uc002yua.2_RNA	1	1		possibly_damaging(0.848)	p.L63M	NM_001127670	NP_001121142		tolerated(0.08)	1	KCNE1_HUMAN	KCNE1	HGNC	P15382	KCNE1_HUMAN			Q5DI96_HUMAN,C7S316_HUMAN,B4E2L9_HUMAN,A7LFK4_HUMAN		2	617	-			UPI000012F141	63			Helical; (Potential).		SNV	KCNE1,missense_variant,p.Leu63Met,ENST00000337385,NM_001270403.1,NM_001270402.1;KCNE1,missense_variant,p.Leu63Met,ENST00000432085,NM_001127668.2,NM_001270405.1;KCNE1,missense_variant,p.Leu63Met,ENST00000399289,NM_001127669.2,NM_001270404.1,NM_001127670.2;KCNE1,missense_variant,p.Leu63Met,ENST00000399286,NM_000219.4;KCNE1,missense_variant,p.Leu63Met,ENST00000416357,;KCNE1,missense_variant,p.Leu63Met,ENST00000399284,;	uc010gmp.2	c.187C>A	563/3320	2	2			c.187C>A						21	SNP	c.(187-189)CTG>ATG	20	20			ovary(2)	2	Broad	potassium voltage-gated channel, Isk-related		Indapamide(DB00808)	35821746		0.592	ENSG00000180509	7884	g.chr21:35821746G>T	blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity							37.573895	KEEP	5	12	0.294117647	31	26	5	12	0.294117647	42.297604	31	26	0.228571	1	0	0	0	0	1	0	0	0	--	--		0	T			KCNE1_uc002ytz.2_Missense_Mutation_p.L63M|KCNE1_uc010gmq.2_Missense_Mutation_p.L63M|KCNE1_uc010gmr.2_Missense_Mutation_p.L63M|KCNE1_uc010gms.2_Missense_Mutation_p.L63M|KCNE1_uc002yua.2_RNA	166	GBM-19-2629-TP	p.L63M	G	ATGTAGCTCAGCATGATGCCC	NM_001127670	NP_001121142	35821746	P15382	KCNE1_HUMAN	0			2	617	-	T	T			Missense_Mutation	63			Helical; (Potential).			
KCNE1L			GRCh37	X	108868079	108868079	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000372101.2:c.171C>T	p.Asp57=	p.D57=	ENST00000372101	NM_012282.2	57	gaC/gaT	0																																																																																																																																																																																																																																												
KCNE3	10008		GRCh37	11	74168386	74168386	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000310128.4:c.223C>T	p.Leu75Phe	p.L75F	ENST00000310128	NM_005472.4	75	Ctc/Ttc	0																																																																																																																																																																																																																																												
KCNG1	3755	broad.mit.edu	GRCh37	20	49620775	49620775	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371571.4:c.1343G>A	p.Gly448Asp	p.G448D	ENST00000371571	NM_002237.3	448	gGc/gAc	0			1			T	G/D	uc002xwa.3	protein_coding	YES	CCDS13436.1			1343/1542									ovary(1)|central_nervous_system(1)	2	c.(1342-1344)GGC>GAC			Transmembrane_helices:TMhelix,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF88,Pfam_domain:PF00520,Gene3D:1.10.287.70,Superfamily_domains:SSF81324,Prints_domain:PR01491,Prints_domain:PR00169	potassium voltage-gated channel, subfamily G,				ENSP00000360626		3-Mar									COSM478297	3-Mar	.		ENST00000371571	Transcript				voltage-gated potassium channel complex	voltage-gated potassium channel activity	ENSG00000026559	g.chr20:49620775C>T	6248			MODERATE		4.44	high	getma.org/?cm=msa&ty=f&p=KCNG1_HUMAN&rb=270&re=459&var=G448D	getma.org/pdb.php?prot=KCNG1_HUMAN&from=270&to=459&var=G448D	getma.org/?cm=var&var=hg19,20,49620775,C,T&fts=all	G448D	--	--	1																																			1	1		probably_damaging(0.976)	p.G448D	NM_002237	NP_002228		deleterious(0)	1	KCNG1_HUMAN	KCNG1	HGNC	Q9UIX4	KCNG1_HUMAN			Q5JXL4_HUMAN,A2A2I9_HUMAN,A2A2I8_HUMAN		3	1638	-			UPI000012DC99	448			Helical; Name=Segment S6; (Potential).		SNV	KCNG1,missense_variant,p.Gly448Asp,ENST00000371571,NM_002237.3;KCNG1,downstream_gene_variant,,ENST00000396017,;RP5-955M13.4,intron_variant,,ENST00000424566,;KCNG1,non_coding_transcript_exon_variant,,ENST00000506387,;	uc002xwa.3	c.1343G>A	1629/2211	2	2			c.1343G>A						20	SNP	c.(1342-1344)GGC>GAC	31	31			ovary(1)|central_nervous_system(1)	2	Broad	potassium voltage-gated channel, subfamily G,			49620775		0.622	ENSG00000026559	7890	g.chr20:49620775C>T		voltage-gated potassium channel complex	voltage-gated potassium channel activity							-40.045887	KEEP	2	2	-1	96	105	2	2	-1	6.378983	96	105	0.021978	1	0	0	0	0	1	0	0	0	--	--		0	T				18	GBM-06-0137-TP	p.G448D	C	GAGCAGGATGCCGCTCAGGAT	NM_002237	NP_002228	49620775	Q9UIX4	KCNG1_HUMAN	0			3	1638	-	T	T			Missense_Mutation	448			Helical; Name=Segment S6; (Potential).			
KCNG1	0	broad.mit.edu	GRCh37	20	49626233	49626233	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-12-0688-01	TCGA-12-0688-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371571.4:c.643G>C	p.Asp215His	p.D215H	ENST00000371571	NM_002237.3	215	Gac/Cac	0			1			G	D/H	uc002xwa.3	protein_coding	YES	CCDS13436.1			643/1542									ovary(1)|central_nervous_system(1)	2	c.(643-645)GAC>CAC			hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF88,Gene3D:1.20.120.350,Prints_domain:PR01492	potassium voltage-gated channel, subfamily G,				ENSP00000360626		3-Feb									COSM3405189,COSM3405190	3-Feb	.		ENST00000371571	Transcript				voltage-gated potassium channel complex	voltage-gated potassium channel activity	ENSG00000026559	g.chr20:49626233C>G	6248			MODERATE		2.98	medium	getma.org/?cm=msa&ty=f&p=KCNG1_HUMAN&rb=165&re=269&var=D215H	getma.org/pdb.php?prot=KCNG1_HUMAN&from=165&to=269&var=D215H	getma.org/?cm=var&var=hg19,20,49626233,C,G&fts=all	D215H	--	--	1																																		KCNG1_uc002xwb.2_Missense_Mutation_p.D215H	1,1	1		probably_damaging(1)	p.D215H	NM_002237	NP_002228		deleterious(0.02)	1,1	KCNG1_HUMAN	KCNG1	HGNC	Q9UIX4	KCNG1_HUMAN			Q5JXL4_HUMAN,A2A2I9_HUMAN,A2A2I8_HUMAN		2	938	-			UPI000012DC99	215			Cytoplasmic (Potential).		SNV	KCNG1,missense_variant,p.Asp215His,ENST00000371571,NM_002237.3;KCNG1,missense_variant,p.Asp215His,ENST00000396017,;KCNG1,missense_variant,p.Asp215His,ENST00000439216,;KCNG1,downstream_gene_variant,,ENST00000424171,;KCNG1,downstream_gene_variant,,ENST00000433903,;KCNG1,downstream_gene_variant,,ENST00000447736,;RP5-955M13.4,non_coding_transcript_exon_variant,,ENST00000424566,;KCNG1,upstream_gene_variant,,ENST00000506387,;	uc002xwa.3	c.643G>C	929/2211	4	4			c.643G>C						20	SNP	c.(643-645)GAC>CAC	30	30			ovary(1)|central_nervous_system(1)	2	Broad	potassium voltage-gated channel, subfamily G,			49626233		0.726	ENSG00000026559	7890	g.chr20:49626233C>G		voltage-gated potassium channel complex	voltage-gated potassium channel activity							18.669197	KEEP	7	3	-1	19	32	7	3	-1	24.396259	19	32	0.156863	1	0	0	0	0	1	0	0	0	--	--		0	G			KCNG1_uc002xwb.2_Missense_Mutation_p.D215H	121	GBM-12-0688-TP	p.D215H	C	TCCACCATGTCGCGCAGTCGC	NM_002237	NP_002228	49626233	Q9UIX4	KCNG1_HUMAN	0			2	938	-	G	G			Missense_Mutation	215			Cytoplasmic (Potential).			
KCNG1	3755		GRCh37	20	49626630	49626630	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000371571.4:c.246C>T	p.Asp82=	p.D82=	ENST00000371571	NM_002237.3	82	gaC/gaT	0																																																																																																																																																																																																																																												
KCNG2	26251		GRCh37	18	77623839	77623839	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000316249.3:c.172G>A	p.Val58Met	p.V58M	ENST00000316249	NM_012283.1	58	Gtg/Atg	0																																																																																																																																																																																																																																												
KCNG4	93107	broad.mit.edu	GRCh37	16	84270708	84270708	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-02-0055-01	TCGA-02-0055-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308251.4:c.384G>A	p.Ala128=	p.A128=	ENST00000308251	NM_172347.2	128	gcG/gcA	0	T:0		1			T	A	uc010voc.1	protein_coding	YES	CCDS10945.1			384/1560									breast(3)	3	c.(382-384)GCG>GCA			hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF89,Pfam_domain:PF02214,Gene3D:3.30.710.10,Superfamily_domains:SSF54695,Prints_domain:PR01494,Prints_domain:PR00169	potassium voltage-gated channel, subfamily G,			T:0.0001	ENSP00000312129		3-Feb	8.24E-06					1.50E-05			rs369629967,COSM3402525	3-Feb	.		ENST00000308251	Transcript				voltage-gated potassium channel complex	voltage-gated potassium channel activity	ENSG00000168418	g.chr16:84270708C>T	19697			LOW								--	--	1																																		KCNG4_uc002fhu.1_Silent_p.A128A	0,1	1			p.A128A	NM_172347	NP_758857			0,1	KCNG4_HUMAN	KCNG4	HGNC	Q8TDN1	KCNG4_HUMAN			Q547S7_HUMAN		2	505	-			UPI00000557D8	128			Helical; Name=Segment S1; (Potential).		SNV	KCNG4,synonymous_variant,p.=,ENST00000568181,;KCNG4,synonymous_variant,p.=,ENST00000308251,NM_172347.2;	uc010voc.1	c.384G>A	453/1629	2	2			c.384G>A						16	SNP	c.(382-384)GCG>GCA	24	24			breast(3)	3	Broad	potassium voltage-gated channel, subfamily G,			84270708		0.637	ENSG00000168418	7893	g.chr16:84270708C>T		voltage-gated potassium channel complex	voltage-gated potassium channel activity							-5.327561	KEEP	3	5	-1	43	58	3	5	-1	13.548568	43	58	0.063158	1	0	0	0	0	0	0	1	0	--	--		0	T			KCNG4_uc002fhu.1_Silent_p.A128A	4	GBM-02-0055-TP	p.A128A	C	GCTTCCCGGCCGCCAGGAAGC	NM_172347	NP_758857	84270708	Q8TDN1	KCNG4_HUMAN	0			2	505	-	T	T			Silent	128			Helical; Name=Segment S1; (Potential).			
KCNH1	3756	broad.mit.edu	GRCh37	1	211093222	211093222	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0171-01	TCGA-06-0171-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271751.4:c.1222G>A	p.Glu408Lys	p.E408K	ENST00000271751		408	Gag/Aag	0			1			T	E/K	uc001hib.2	protein_coding	YES	CCDS1496.1			1222/2970									ovary(4)|central_nervous_system(1)	5	c.(1222-1224)GAG>AAG			Pfam_domain:PF00520,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF377	potassium voltage-gated channel, subfamily H,				ENSP00000271751		11-Jul	8.24E-06					1.50E-05			rs773231948,COSM2150314	11-Jul	.		ENST00000271751	Transcript	1		myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	ENSG00000143473	g.chr1:211093222C>T	6250			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=KCNH1_HUMAN&rb=252&re=498&var=E408K	NA	getma.org/?cm=var&var=hg19,1,211093222,C,T&fts=all	E408K	--	--	1																																		KCNH1_uc001hic.2_Missense_Mutation_p.E381K	0,1	1		benign(0.084)	p.E408K	NM_172362	NP_758872		tolerated(0.43)	0,1	KCNH1_HUMAN	KCNH1	HGNC	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)			7	1392	-			UPI000003230D	408			Extracellular (Potential).		SNV	KCNH1,missense_variant,p.Glu381Lys,ENST00000367007,NM_172362.2,NM_002238.3;KCNH1,missense_variant,p.Glu408Lys,ENST00000271751,;	uc001hib.2	c.1222G>A	1250/3066	1	1			c.1222G>A						1	SNP	c.(1222-1224)GAG>AAG	4	4			ovary(4)|central_nervous_system(1)	5	Broad	potassium voltage-gated channel, subfamily H,			211093222		0.547	ENSG00000143473	7894	g.chr1:211093222C>T	myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity							111.165232	KEEP	15	36	-1	74	87	15	36	-1	122.504019	74	87	0.243386	1	0	0	0	0	1	0	0	0	--	--		0	T			KCNH1_uc001hic.2_Missense_Mutation_p.E381K	35	GBM-06-0171-TP	p.E408K	C	TTGGTGTCCTCGTCAAAGATC	NM_172362	NP_758872	211093222	O95259	KCNH1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	7	1392	-	T	T			Missense_Mutation	408			Extracellular (Potential).			
KCNH1	0	broad.mit.edu	GRCh37	1	210977475	210977475	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271751.4:c.1496C>T	p.Thr499Met	p.T499M	ENST00000271751		499	aCg/aTg	0			1			A	T/M	uc001hib.2	protein_coding	YES	CCDS1496.1			1496/2970									ovary(4)|central_nervous_system(1)	5	c.(1495-1497)ACG>ATG			Gene3D:1.10.287.70,Prints_domain:PR01463,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF377,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix	potassium voltage-gated channel, subfamily H,				ENSP00000271751		11-Aug									COSM3400279	11-Aug	.		ENST00000271751	Transcript	1		myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	ENSG00000143473	g.chr1:210977475G>A	6250			MODERATE		3.1	medium	getma.org/?cm=msa&ty=f&p=KCNH1_HUMAN&rb=499&re=598&var=T499M	NA	getma.org/?cm=var&var=hg19,1,210977475,G,A&fts=all	T499M	--	--	1																																		KCNH1_uc001hic.2_Missense_Mutation_p.T472M	1	1		probably_damaging(0.995)	p.T499M	NM_172362	NP_758872		deleterious(0)	1	KCNH1_HUMAN	KCNH1	HGNC	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)			8	1666	-			UPI000003230D	499			Cytoplasmic (Potential).		SNV	KCNH1,missense_variant,p.Thr472Met,ENST00000367007,NM_172362.2,NM_002238.3;KCNH1,missense_variant,p.Thr499Met,ENST00000271751,;	uc001hib.2	c.1496C>T	1524/3066	2	2			c.1496C>T						1	SNP	c.(1495-1497)ACG>ATG	48	48			ovary(4)|central_nervous_system(1)	5	Broad	potassium voltage-gated channel, subfamily H,			210977475		0.478	ENSG00000143473	7894	g.chr1:210977475G>A	myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity							12.529225	KEEP	2	7	-1	33	24	2	7	-1	20.278173	33	24	0.142857	1	0	0	0	0	1	0	0	0	--	--		0	A			KCNH1_uc001hic.2_Missense_Mutation_p.T472M	139	GBM-14-0817-TP	p.T499M	G	GAAAATAGTCGTCACATTCCC	NM_172362	NP_758872	210977475	O95259	KCNH1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	8	1666	-	A	A			Missense_Mutation	499			Cytoplasmic (Potential).			
KCNH1	0	broad.mit.edu	GRCh37	1	211192295	211192295	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-2554-01	TCGA-14-2554-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271751.4:c.862C>T	p.Arg288Cys	p.R288C	ENST00000271751		288	Cgc/Tgc	0			1			A	R/C	uc001hib.2	protein_coding	YES	CCDS1496.1			862/2970									ovary(4)|central_nervous_system(1)	5	c.(862-864)CGC>TGC			Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF377,Superfamily_domains:SSF81324	potassium voltage-gated channel, subfamily H,				ENSP00000271751		11-Jun	1.65E-05					3.00E-05			rs751141740,COSM3400282	11-Jun	.		ENST00000271751	Transcript	1		myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	ENSG00000143473	g.chr1:211192295G>A	6250			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=KCNH1_HUMAN&rb=252&re=498&var=R288C	NA	getma.org/?cm=var&var=hg19,1,211192295,G,A&fts=all	R288C	--	--	1																																		KCNH1_uc001hic.2_Missense_Mutation_p.R288C	0,1	1		probably_damaging(0.999)	p.R288C	NM_172362	NP_758872		deleterious(0)	0,1	KCNH1_HUMAN	KCNH1	HGNC	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)			6	1032	-			UPI000003230D	288			Cytoplasmic (Potential).		SNV	KCNH1,missense_variant,p.Arg288Cys,ENST00000367007,NM_172362.2,NM_002238.3;KCNH1,missense_variant,p.Arg288Cys,ENST00000271751,;	uc001hib.2	c.862C>T	890/3066	1	1			c.862C>T						1	SNP	c.(862-864)CGC>TGC	64	64			ovary(4)|central_nervous_system(1)	5	Broad	potassium voltage-gated channel, subfamily H,			211192295		0.448	ENSG00000143473	7894	g.chr1:211192295G>A	myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity							207.411607	KEEP	45	32	-1	73	70	45	32	-1	211.903397	73	70	0.34	1	0	0	0	0	1	0	0	0	--	--		0	A			KCNH1_uc001hic.2_Missense_Mutation_p.R288C	150	GBM-14-2554-TP	p.R288C	G	TAGTTCATGCGGATAAGTTTG	NM_172362	NP_758872	211192295	O95259	KCNH1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	6	1032	-	A	A			Missense_Mutation	288			Cytoplasmic (Potential).			
KCNH2	3757	broad.mit.edu	GRCh37	7	150649545	150649545	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01	TCGA-06-2563-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262186.5:c.1525G>A	p.Asp509Asn	p.D509N	ENST00000262186	NM_000238.3	509	Gac/Aac	0	T:0		1			T	D/N	uc003wic.2	protein_coding	YES	CCDS5910.1			1525/3480									skin(3)|ovary(1)	4	c.(1525-1527)GAC>AAC			hmmpanther:PTHR10217:SF468,hmmpanther:PTHR10217,Pfam_domain:PF00520,Gene3D:1.10.287.70,Superfamily_domains:SSF81324	voltage-gated potassium channel, subfamily H,	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)		T:0.0001	ENSP00000262186		15-Jun	8.24E-06					1.50E-05			rs370637245,COSM2152843,COSM2152844	15-Jun	.		ENST00000262186	Transcript	1		blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	ENSG00000055118	g.chr7:150649545C>T	6251			MODERATE		3.145	medium	getma.org/?cm=msa&ty=f&p=KCNH2_HUMAN&rb=454&re=659&var=D509N	NA	getma.org/?cm=var&var=hg19,7,150649545,C,T&fts=all	D509N	--	--	1																																		KCNH2_uc003wib.2_Missense_Mutation_p.D169N|KCNH2_uc011kux.1_Missense_Mutation_p.D413N|KCNH2_uc003wid.2_Missense_Mutation_p.D169N|KCNH2_uc003wie.2_Missense_Mutation_p.D509N	0,1,1	1		probably_damaging(0.949)	p.D509N	NM_000238	NP_000229		deleterious(0)	0,1,1	KCNH2_HUMAN	KCNH2	HGNC	Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Q75MK9_HUMAN,Q75MK8_HUMAN,Q6U287_HUMAN,Q6U283_HUMAN,Q6U279_HUMAN,Q45QN5_HUMAN		6	1538	-	all_neural(206;0.219)		UPI0000062255	509			Helical; Name=Segment S3; (Potential).		SNV	KCNH2,missense_variant,p.Asp413Asn,ENST00000392968,;KCNH2,missense_variant,p.Asp509Asn,ENST00000262186,NM_000238.3;KCNH2,missense_variant,p.Asp169Asn,ENST00000330883,NM_172057.2;KCNH2,missense_variant,p.Asp509Asn,ENST00000430723,NM_172056.2;KCNH2,non_coding_transcript_exon_variant,,ENST00000532957,;KCNH2,non_coding_transcript_exon_variant,,ENST00000473610,;KCNH2,non_coding_transcript_exon_variant,,ENST00000461280,;	uc003wic.2	c.1525G>A	1927/4286	2	2			c.1525G>A						7	SNP	c.(1525-1527)GAC>AAC	25	25			skin(3)|ovary(1)	4	Broad	voltage-gated potassium channel, subfamily H,		Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	150649545		0.632	ENSG00000055118	7895	g.chr7:150649545C>T	blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	GBM(137;110 1844 13671 20123 45161)		314	GBM(137;110 1844 13671 20123 45161)		314	62.932244	KEEP	9	16	-1	15	27	9	16	-1	63.870857	15	27	0.366667	1	0	0	0	0	1	0	0	0	--	--		0	T			KCNH2_uc003wib.2_Missense_Mutation_p.D169N|KCNH2_uc011kux.1_Missense_Mutation_p.D413N|KCNH2_uc003wid.2_Missense_Mutation_p.D169N|KCNH2_uc003wie.2_Missense_Mutation_p.D509N	86	GBM-06-2563-TP	p.D509N	C	ATGAGCAGGTCGAAGGGGATG	NM_000238	NP_000229	150649545	Q12809	KCNH2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	6	1538	-	T	T	all_neural(206;0.219)		Missense_Mutation	509			Helical; Name=Segment S3; (Potential).			
KCNH2	0	broad.mit.edu	GRCh37	7	150645539	150645539	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2495-01	TCGA-32-2495-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262186.5:c.2685G>A	p.Thr895=	p.T895=	ENST00000262186	NM_000238.3	895	acG/acA	0			1			T	T	uc003wic.2	protein_coding	YES	CCDS5910.1			2685/3480									skin(3)|ovary(1)	4	c.(2683-2685)ACG>ACA			hmmpanther:PTHR10217:SF468,hmmpanther:PTHR10217	voltage-gated potassium channel, subfamily H,	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)			ENSP00000262186		15-Nov									COSM3411800	15-Nov	.		ENST00000262186	Transcript	1		blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	ENSG00000055118	g.chr7:150645539C>T	6251			LOW								--	--	1																																		KCNH2_uc003wib.2_Silent_p.T555T|KCNH2_uc011kux.1_Silent_p.T799T	1	1			p.T895T	NM_000238	NP_000229			1	KCNH2_HUMAN	KCNH2	HGNC	Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Q75MK9_HUMAN,Q75MK8_HUMAN,Q6U287_HUMAN,Q6U283_HUMAN,Q6U279_HUMAN,Q45QN5_HUMAN		11	2698	-	all_neural(206;0.219)		UPI0000062255	895	T->A: Abolishes phosphorylation; when associated with A-283; A-890 and A-1137.		Cytoplasmic (Potential).		SNV	KCNH2,synonymous_variant,p.=,ENST00000392968,;KCNH2,synonymous_variant,p.=,ENST00000262186,NM_000238.3;KCNH2,synonymous_variant,p.=,ENST00000330883,NM_172057.2;KCNH2,downstream_gene_variant,,ENST00000430723,NM_172056.2;KCNH2,downstream_gene_variant,,ENST00000532957,;KCNH2,downstream_gene_variant,,ENST00000473610,;KCNH2,downstream_gene_variant,,ENST00000461280,;	uc003wic.2	c.2685G>A	3087/4286	2	2			c.2685G>A						7	SNP	c.(2683-2685)ACG>ACA	46	46			skin(3)|ovary(1)	4	Broad	voltage-gated potassium channel, subfamily H,		Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	150645539		0.368	ENSG00000055118	7895	g.chr7:150645539C>T	blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	GBM(137;110 1844 13671 20123 45161)	p.T555T(HARA-Tumor)	314	GBM(137;110 1844 13671 20123 45161)	p.T555T(HARA-Tumor)	314	1.12084	KEEP	4	1	-1	27	43	4	1	-1	13.563819	27	43	0.074627	1	0	0	0	0	0	0	1	0	--	--		0	T			KCNH2_uc003wib.2_Silent_p.T555T|KCNH2_uc011kux.1_Silent_p.T799T	237	GBM-32-2495-TP	p.T895T	C	cacccTTGTCCGTGCGCCTGC	NM_000238	NP_000229	150645539	Q12809	KCNH2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	11	2698	-	T	T	all_neural(206;0.219)		Silent	895	T->A: Abolishes phosphorylation; when associated with A-283; A-890 and A-1137.		Cytoplasmic (Potential).			
KCNH3	23416	broad.mit.edu	GRCh37	12	49935518	49935518	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01	TCGA-06-0743-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257981.6:c.416G>A	p.Arg139Gln	p.R139Q	ENST00000257981	NM_012284.1	139	cGa/cAa	0			1			A	R/Q	uc001ruh.1	protein_coding	YES	CCDS8786.1			416/3252										0	c.(415-417)CGA>CAA			hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF481,PROSITE_profiles:PS50113	potassium voltage-gated channel, subfamily H				ENSP00000257981		15-Mar									COSM3398784	15-Mar	.		ENST00000257981	Transcript			regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	ENSG00000135519	g.chr12:49935518G>A	6252			MODERATE		1.555	low	getma.org/?cm=msa&ty=f&p=KCNH3_HUMAN&rb=93&re=145&var=R139Q	NA	getma.org/?cm=var&var=hg19,12,49935518,G,A&fts=all	R139Q	--	--	1																																		KCNH3_uc010smj.1_Missense_Mutation_p.R79Q	1	1		benign(0.056)	p.R139Q	NM_012284	NP_036416		tolerated(0.22)	1	KCNH3_HUMAN	KCNH3	HGNC	Q9ULD8	KCNH3_HUMAN			Q8N500_HUMAN		3	676	+			UPI000012DCA6	139			PAC.|Cytoplasmic (Potential).		SNV	KCNH3,missense_variant,p.Arg139Gln,ENST00000257981,NM_012284.1;KCNH3,non_coding_transcript_exon_variant,,ENST00000550434,;KCNH3,upstream_gene_variant,,ENST00000551415,;	uc001ruh.1	c.416G>A	676/3867	2	2			c.416G>A						12	SNP	c.(415-417)CGA>CAA	45	45				0	Broad	potassium voltage-gated channel, subfamily H			49935518		0.592	ENSG00000135519	7896	g.chr12:49935518G>A	regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity							-55.113924	KEEP	5	7	-1	146	195	5	7	-1	17.595116	146	195	0.032787	1	0	0	0	0	1	0	0	0	--	--		0	A			KCNH3_uc010smj.1_Missense_Mutation_p.R79Q	65	GBM-06-0743-TP	p.R139Q	G	ACCAAGAACCGAGGGGGCCCC	NM_012284	NP_036416	49935518	Q9ULD8	KCNH3_HUMAN	0			3	676	+	A	A			Missense_Mutation	139			PAC.|Cytoplasmic (Potential).			
KCNH5	27133	broad.mit.edu	GRCh37	14	63316465	63316465	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0157-01	TCGA-06-0157-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322893.7:c.1475T>A	p.Leu492Gln	p.L492Q	ENST00000322893	NM_139318.4	492	cTa/cAa	0			1			T	L/Q	uc001xfx.2	protein_coding	YES	CCDS9756.1			1475/2967									ovary(4)|skin(4)|central_nervous_system(1)	9	c.(1474-1476)CTA>CAA			Gene3D:3bpzA01,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF376,Superfamily_domains:SSF51206	potassium voltage-gated channel, subfamily H,				ENSP00000321427		11-Aug									COSM2150044,COSM2150045	11-Aug	.		ENST00000322893	Transcript			regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	ENSG00000140015	g.chr14:63316465A>T	6254			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=KCNH5_HUMAN&rb=468&re=567&var=L492Q	getma.org/pdb.php?prot=KCNH5_HUMAN&from=468&to=567&var=L492Q	getma.org/?cm=var&var=hg19,14,63316465,A,T&fts=all	L492Q	--	--	1																																		KCNH5_uc001xfy.2_Missense_Mutation_p.L492Q|KCNH5_uc001xfz.1_Missense_Mutation_p.L434Q	1,1	1		probably_damaging(0.999)	p.L492Q	NM_139318	NP_647479		deleterious(0)	1,1	KCNH5_HUMAN	KCNH5	HGNC	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)			8	1526	-			UPI0000039E2D	492			Cytoplasmic (Potential).		SNV	KCNH5,missense_variant,p.Leu492Gln,ENST00000322893,NM_139318.4;KCNH5,missense_variant,p.Leu492Gln,ENST00000420622,NM_172375.2;KCNH5,missense_variant,p.Leu434Gln,ENST00000394968,;	uc001xfx.2	c.1475T>A	1744/4175	2	2			c.1475T>A						14	SNP	c.(1474-1476)CTA>CAA	29	29			ovary(4)|skin(4)|central_nervous_system(1)	9	Broad	potassium voltage-gated channel, subfamily H,			63316465		0.393	ENSG00000140015	7898	g.chr14:63316465A>T	regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity							105.643068	KEEP	27	19	-1	76	69	27	19	-1	115.239795	76	69	0.251462	1	0	0	0	0	1	0	0	0	--	--		0	T			KCNH5_uc001xfy.2_Missense_Mutation_p.L492Q|KCNH5_uc001xfz.1_Missense_Mutation_p.L434Q	28	GBM-06-0157-TP	p.L492Q	A	ATAGAGTTTTAGGAAGTCCCG	NM_139318	NP_647479	63316465	Q8NCM2	KCNH5_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	8	1526	-	T	T			Missense_Mutation	492			Cytoplasmic (Potential).			
KCNH5	27133	broad.mit.edu	GRCh37	14	63447847	63447847	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01	TCGA-06-0166-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322893.7:c.685G>A	p.Ala229Thr	p.A229T	ENST00000322893	NM_139318.4	229	Gcc/Acc	0		T:0	1	T:0		T	A/T	uc001xfx.2	protein_coding	YES	CCDS9756.1			685/2967									ovary(4)|skin(4)|central_nervous_system(1)	9	c.(685-687)GCC>ACC			Gene3D:1.10.287.70,Prints_domain:PR01463,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF376,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix	potassium voltage-gated channel, subfamily H,		T:0.001		ENSP00000321427	T:0	11-Jun	8.24E-05			0.000116	0.000151	0.00012			rs200308580,COSM166621,COSM2150165	11-Jun	.		ENST00000322893	Transcript		T:0.0002	regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	ENSG00000140015	g.chr14:63447847C>T	6254			MODERATE		2.8	medium	getma.org/?cm=msa&ty=f&p=KCNH5_HUMAN&rb=134&re=248&var=A229T	NA	getma.org/?cm=var&var=hg19,14,63447847,C,T&fts=all	A229T	--	--	1																																		KCNH5_uc001xfy.2_Missense_Mutation_p.A229T|KCNH5_uc001xfz.1_Missense_Mutation_p.A171T|KCNH5_uc001xga.2_Missense_Mutation_p.A171T	0,1,1	1		probably_damaging(0.997)	p.A229T	NM_139318	NP_647479	T:0	deleterious(0.03)	0,1,1	KCNH5_HUMAN	KCNH5	HGNC	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)			6	736	-			UPI0000039E2D	229			Helical; Name=Segment S1; (Potential).		SNV	KCNH5,missense_variant,p.Ala229Thr,ENST00000322893,NM_139318.4;KCNH5,missense_variant,p.Ala229Thr,ENST00000420622,NM_172375.2;KCNH5,missense_variant,p.Ala171Thr,ENST00000394968,;KCNH5,missense_variant,p.Ala171Thr,ENST00000394964,;	uc001xfx.2	c.685G>A	954/4175	2	2			c.685G>A						14	SNP	c.(685-687)GCC>ACC	47	47			ovary(4)|skin(4)|central_nervous_system(1)	9	Broad	potassium voltage-gated channel, subfamily H,			63447847		0.383	ENSG00000140015	7898	g.chr14:63447847C>T	regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity							45.716676	KEEP	9	12	-1	23	36	9	12	-1	49.289474	23	36	0.26087	1	0	0	0	0	1	0	0	0	--	--		0	T			KCNH5_uc001xfy.2_Missense_Mutation_p.A229T|KCNH5_uc001xfz.1_Missense_Mutation_p.A171T|KCNH5_uc001xga.2_Missense_Mutation_p.A171T	31	GBM-06-0166-TP	p.A229T	C	ACCATAATGGCGGTGTAGAAG	NM_139318	NP_647479	63447847	Q8NCM2	KCNH5_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	6	736	-	T	T			Missense_Mutation	229			Helical; Name=Segment S1; (Potential).			
KCNH5	0	broad.mit.edu	GRCh37	14	63447809	63447809	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2638-01	TCGA-32-2638-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322893.7:c.723G>A	p.Lys241=	p.K241=	ENST00000322893	NM_139318.4	241	aaG/aaA	0			1			T	K	uc001xfx.2	protein_coding	YES	CCDS9756.1			723/2967									ovary(4)|skin(4)|central_nervous_system(1)	9	c.(721-723)AAG>AAA			Gene3D:1.10.287.70,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF376,Superfamily_domains:SSF81324	potassium voltage-gated channel, subfamily H,				ENSP00000321427		11-Jun									COSM234852,COSM3401385	11-Jun	.		ENST00000322893	Transcript			regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	ENSG00000140015	g.chr14:63447809C>T	6254			LOW								--	--	1																																		KCNH5_uc001xfy.2_Silent_p.K241K|KCNH5_uc001xfz.1_Silent_p.K183K|KCNH5_uc001xga.2_Silent_p.K183K	1,1	1			p.K241K	NM_139318	NP_647479			1,1	KCNH5_HUMAN	KCNH5	HGNC	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)			6	774	-			UPI0000039E2D	241			Extracellular (Potential).		SNV	KCNH5,synonymous_variant,p.=,ENST00000322893,NM_139318.4;KCNH5,synonymous_variant,p.=,ENST00000420622,NM_172375.2;KCNH5,synonymous_variant,p.=,ENST00000394968,;KCNH5,synonymous_variant,p.=,ENST00000394964,;	uc001xfx.2	c.723G>A	992/4175	2	2			c.723G>A						14	SNP	c.(721-723)AAG>AAA	30	30			ovary(4)|skin(4)|central_nervous_system(1)	9	Broad	potassium voltage-gated channel, subfamily H,			63447809		0.398	ENSG00000140015	7898	g.chr14:63447809C>T	regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity							56.98193	KEEP	13	10	-1	26	26	13	10	-1	58.100486	26	26	0.350877	1	0	0	0	0	0	0	1	0	--	--		0	T			KCNH5_uc001xfy.2_Silent_p.K241K|KCNH5_uc001xfz.1_Silent_p.K183K|KCNH5_uc001xga.2_Silent_p.K183K	242	GBM-32-2638-TP	p.K241K	C	TGTTGTTCTGCTTTGTTTTGA	NM_139318	NP_647479	63447809	Q8NCM2	KCNH5_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	6	774	-	T	T			Silent	241			Extracellular (Potential).			
KCNH5	0	broad.mit.edu	GRCh37	14	63468087	63468087	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01	TCGA-41-5651-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322893.7:c.395C>T	p.Thr132Met	p.T132M	ENST00000322893	NM_139318.4	132	aCg/aTg	0			1			A	T/M	uc001xfx.2	protein_coding	YES	CCDS9756.1			395/2967									ovary(4)|skin(4)|central_nervous_system(1)	9	c.(394-396)ACG>ATG			Gene3D:3.30.450.20,Pfam_domain:PF13426,Prints_domain:PR01464,PROSITE_profiles:PS50113,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF376,SMART_domains:SM00086,Superfamily_domains:SSF55785,TIGRFAM_domain:TIGR00229	potassium voltage-gated channel, subfamily H,				ENSP00000321427		11-Apr	8.24E-06		8.96E-05						rs765878799,COSM1370452,COSM1370453	11-Apr	.		ENST00000322893	Transcript			regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	ENSG00000140015	g.chr14:63468087G>A	6254			MODERATE		3.02	medium	getma.org/?cm=msa&ty=f&p=KCNH5_HUMAN&rb=25&re=133&var=T132M	getma.org/pdb.php?prot=KCNH5_HUMAN&from=25&to=133&var=T132M	getma.org/?cm=var&var=hg19,14,63468087,G,A&fts=all	T132M	--	--	1																																		KCNH5_uc001xfy.2_Missense_Mutation_p.T132M|KCNH5_uc001xfz.1_Missense_Mutation_p.T74M|KCNH5_uc001xga.2_Missense_Mutation_p.T74M	0,1,1	1		probably_damaging(0.999)	p.T132M	NM_139318	NP_647479		deleterious(0)	0,1,1	KCNH5_HUMAN	KCNH5	HGNC	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)			4	446	-			UPI0000039E2D	132			PAC.|Cytoplasmic (Potential).		SNV	KCNH5,missense_variant,p.Thr132Met,ENST00000322893,NM_139318.4;KCNH5,missense_variant,p.Thr132Met,ENST00000420622,NM_172375.2;KCNH5,missense_variant,p.Thr74Met,ENST00000394968,;KCNH5,missense_variant,p.Thr74Met,ENST00000394964,;	uc001xfx.2	c.395C>T	664/4175	2	2			c.395C>T						14	SNP	c.(394-396)ACG>ATG	26	26			ovary(4)|skin(4)|central_nervous_system(1)	9	Broad	potassium voltage-gated channel, subfamily H,			63468087		0.343	ENSG00000140015	7898	g.chr14:63468087G>A	regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity							16.745866	KEEP	3	5	-1	2	8	3	5	-1	16.965353	2	8	0.375	1	0	0	0	0	1	0	0	0	--	--		0	A			KCNH5_uc001xfy.2_Missense_Mutation_p.T132M|KCNH5_uc001xfz.1_Missense_Mutation_p.T74M|KCNH5_uc001xga.2_Missense_Mutation_p.T74M	258	GBM-41-5651-TP	p.T132M	G	TTTGAACAACGTAATATCCTT	NM_139318	NP_647479	63468087	Q8NCM2	KCNH5_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	4	446	-	A	A			Missense_Mutation	132			PAC.|Cytoplasmic (Potential).			
KCNH6	0	broad.mit.edu	GRCh37	17	61613122	61613122	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0615-01	TCGA-12-0615-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000583023.1:c.1194G>A	p.Ala398=	p.A398=	ENST00000583023	NM_030779.3	398	gcG/gcA	0			1			A	A	uc002jay.2	protein_coding	YES	CCDS11638.1			1194/2985									skin(1)	1	c.(1192-1194)GCG>GCA			Superfamily_domains:SSF81324,Pfam_domain:PF00520,Gene3D:1.10.287.70,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF473	potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)			ENSP00000463533		14-Jun									COSM3403105	14-Jun	.		ENST00000583023	Transcript			regulation of transcription, DNA-dependent|signal transduction			ENSG00000173826	g.chr17:61613122G>A	18862			LOW								--	--	1																																		KCNH6_uc002jax.1_Silent_p.A398A|KCNH6_uc010wpl.1_Silent_p.A275A|KCNH6_uc010wpm.1_Silent_p.A398A|KCNH6_uc002jaz.1_Silent_p.A398A	1	1			p.A398A	NM_030779	NP_110406			1	KCNH6_HUMAN	KCNH6	HGNC	Q9H252	KCNH6_HUMAN					6	1274	+			UPI000012DCAB	398			Cytoplasmic (Potential).		SNV	KCNH6,synonymous_variant,p.=,ENST00000583023,NM_030779.3;KCNH6,synonymous_variant,p.=,ENST00000456941,NM_001278920.1;KCNH6,synonymous_variant,p.=,ENST00000314672,NM_001278919.1;KCNH6,synonymous_variant,p.=,ENST00000581784,NM_173092.2;KCNH6,synonymous_variant,p.=,ENST00000580652,;KCNH6,3_prime_UTR_variant,,ENST00000583465,;	uc002jay.2	c.1194G>A	1205/3821	2	2			c.1194G>A						17	SNP	c.(1192-1194)GCG>GCA	42	42			skin(1)	1	Broad	potassium voltage-gated channel, subfamily H,		Ibutilide(DB00308)	61613122		0.617	ENSG00000173826	7899	g.chr17:61613122G>A	regulation of transcription, DNA-dependent|signal transduction									-13.383999	KEEP	4	1	-1	61	58	4	1	-1	11.417871	61	58	0.044643	1	0	0	0	0	0	0	1	0	--	--		0	A			KCNH6_uc002jax.1_Silent_p.A398A|KCNH6_uc010wpl.1_Silent_p.A275A|KCNH6_uc010wpm.1_Silent_p.A398A|KCNH6_uc002jaz.1_Silent_p.A398A	117	GBM-12-0615-TP	p.A398A	G	AGTATGGGGCGGCTGTGCTCT	NM_030779	NP_110406	61613122	Q9H252	KCNH6_HUMAN	0			6	1274	+	A	A			Silent	398			Cytoplasmic (Potential).			
KCNH6	0	broad.mit.edu	GRCh37	17	61607575	61607575	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-2631-01	TCGA-19-2631-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000583023.1:c.431T>C	p.Leu144Ser	p.L144S	ENST00000583023	NM_030779.3	144	tTg/tCg	0			1			C	L/S	uc002jay.2	protein_coding	YES	CCDS11638.1			431/2985									skin(1)	1	c.(430-432)TTG>TCG			Low_complexity_(Seg):seg,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF473	potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)			ENSP00000463533		14-Mar									COSM2156392	14-Mar	.		ENST00000583023	Transcript			regulation of transcription, DNA-dependent|signal transduction			ENSG00000173826	g.chr17:61607575T>C	18862			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=KCNH6_HUMAN&rb=92&re=144&var=L144S	NA	getma.org/?cm=var&var=hg19,17,61607575,T,C&fts=all	L144S	--	--	1																																		KCNH6_uc002jax.1_Missense_Mutation_p.L144S|KCNH6_uc010wpl.1_Missense_Mutation_p.L21S|KCNH6_uc010wpm.1_Missense_Mutation_p.L144S|KCNH6_uc002jaz.1_Missense_Mutation_p.L144S	1	1		benign(0.027)	p.L144S	NM_030779	NP_110406		tolerated(0.33)	1	KCNH6_HUMAN	KCNH6	HGNC	Q9H252	KCNH6_HUMAN					3	511	+			UPI000012DCAB	144			PAC.|Cytoplasmic (Potential).		SNV	KCNH6,missense_variant,p.Leu144Ser,ENST00000583023,NM_030779.3;KCNH6,missense_variant,p.Leu144Ser,ENST00000456941,NM_001278920.1;KCNH6,missense_variant,p.Leu144Ser,ENST00000314672,NM_001278919.1;KCNH6,missense_variant,p.Leu144Ser,ENST00000581784,NM_173092.2;KCNH6,missense_variant,p.Leu144Ser,ENST00000580652,;KCNH6,3_prime_UTR_variant,,ENST00000583465,;	uc002jay.2	c.431T>C	442/3821	3	3			c.431T>C						17	SNP	c.(430-432)TTG>TCG	2	2			skin(1)	1	Broad	potassium voltage-gated channel, subfamily H,		Ibutilide(DB00308)	61607575		0.642	ENSG00000173826	7899	g.chr17:61607575T>C	regulation of transcription, DNA-dependent|signal transduction									61.557187	KEEP	17	22	-1	36	32	17	22	-1	62.863599	36	32	0.344262	1	0	0	0	0	1	0	0	0	--	--		0	C			KCNH6_uc002jax.1_Missense_Mutation_p.L144S|KCNH6_uc010wpl.1_Missense_Mutation_p.L21S|KCNH6_uc010wpm.1_Missense_Mutation_p.L144S|KCNH6_uc002jaz.1_Missense_Mutation_p.L144S	167	GBM-19-2631-TP	p.L144S	T	AGCCGCAGCTTGTCCCAGCGC	NM_030779	NP_110406	61607575	Q9H252	KCNH6_HUMAN	0			3	511	+	C	C			Missense_Mutation	144			PAC.|Cytoplasmic (Potential).			
KCNH6	0	broad.mit.edu	GRCh37	17	61611547	61611547	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-26-5133-01	TCGA-26-5133-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000583023.1:c.976A>G	p.Thr326Ala	p.T326A	ENST00000583023	NM_030779.3	326	Acc/Gcc	0			1			G	T/A	uc002jay.2	protein_coding	YES	CCDS11638.1			976/2985									skin(1)	1	c.(976-978)ACC>GCC			Superfamily_domains:SSF81324,Pfam_domain:PF00520,Gene3D:1.10.287.70,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF473	potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)			ENSP00000463533		14-May									COSM3403104	14-May	.		ENST00000583023	Transcript			regulation of transcription, DNA-dependent|signal transduction			ENSG00000173826	g.chr17:61611547A>G	18862			MODERATE		0.12	neutral	getma.org/?cm=msa&ty=f&p=KCNH6_HUMAN&rb=302&re=511&var=T326A	NA	getma.org/?cm=var&var=hg19,17,61611547,A,G&fts=all	T326A	--	--	1																																		KCNH6_uc002jax.1_Missense_Mutation_p.T326A|KCNH6_uc010wpl.1_Missense_Mutation_p.T203A|KCNH6_uc010wpm.1_Missense_Mutation_p.T326A|KCNH6_uc002jaz.1_Missense_Mutation_p.T326A	1	1		benign(0.001)	p.T326A	NM_030779	NP_110406		tolerated(0.79)	1	KCNH6_HUMAN	KCNH6	HGNC	Q9H252	KCNH6_HUMAN					5	1056	+			UPI000012DCAB	326			Cytoplasmic (Potential).		SNV	KCNH6,missense_variant,p.Thr326Ala,ENST00000583023,NM_030779.3;KCNH6,missense_variant,p.Thr326Ala,ENST00000456941,NM_001278920.1;KCNH6,missense_variant,p.Thr326Ala,ENST00000314672,NM_001278919.1;KCNH6,missense_variant,p.Thr326Ala,ENST00000581784,NM_173092.2;KCNH6,missense_variant,p.Thr326Ala,ENST00000580652,;KCNH6,3_prime_UTR_variant,,ENST00000583465,;	uc002jay.2	c.976A>G	987/3821	3	3			c.976A>G						17	SNP	c.(976-978)ACC>GCC	3	3			skin(1)	1	Broad	potassium voltage-gated channel, subfamily H,		Ibutilide(DB00308)	61611547		0.567	ENSG00000173826	7899	g.chr17:61611547A>G	regulation of transcription, DNA-dependent|signal transduction									-34.803484	KEEP	3	5	-1	108	108	3	5	-1	13.379804	108	108	0.030151	1	0	0	0	0	1	0	0	0	--	--		0	G			KCNH6_uc002jax.1_Missense_Mutation_p.T326A|KCNH6_uc010wpl.1_Missense_Mutation_p.T203A|KCNH6_uc010wpm.1_Missense_Mutation_p.T326A|KCNH6_uc002jaz.1_Missense_Mutation_p.T326A	182	GBM-26-5133-TP	p.T326A	A	CTATGTCAACACCAATGATGA	NM_030779	NP_110406	61611547	Q9H252	KCNH6_HUMAN	0			5	1056	+	G	G			Missense_Mutation	326			Cytoplasmic (Potential).			
KCNH6	0	broad.mit.edu	GRCh37	17	61613357	61613357	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01	TCGA-32-4208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000583023.1:c.1429G>A	p.Val477Met	p.V477M	ENST00000583023	NM_030779.3	477	Gtg/Atg	0	A:0		1			A	V/M	uc002jay.2	protein_coding	YES	CCDS11638.1			1429/2985									skin(1)	1	c.(1429-1431)GTG>ATG			Transmembrane_helices:TMhelix,Prints_domain:PR01463,Superfamily_domains:SSF81324,Pfam_domain:PF00520,Gene3D:1.10.287.70,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF473	potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)		A:0.0001	ENSP00000463533		14-Jun	1.65E-05					1.52E-05	0.00111		rs376994110,COSM3403106	14-Jun	.		ENST00000583023	Transcript			regulation of transcription, DNA-dependent|signal transduction			ENSG00000173826	g.chr17:61613357G>A	18862			MODERATE		3.185	medium	getma.org/?cm=msa&ty=f&p=KCNH6_HUMAN&rb=302&re=511&var=V477M	getma.org/pdb.php?prot=KCNH6_HUMAN&from=302&to=511&var=V477M	getma.org/?cm=var&var=hg19,17,61613357,G,A&fts=all	V477M	--	--	1																																		KCNH6_uc002jax.1_Missense_Mutation_p.V477M|KCNH6_uc010wpl.1_Missense_Mutation_p.V354M|KCNH6_uc010wpm.1_Missense_Mutation_p.V477M|KCNH6_uc002jaz.1_Missense_Mutation_p.V424M	0,1	1		probably_damaging(0.999)	p.V477M	NM_030779	NP_110406		deleterious(0)	0,1	KCNH6_HUMAN	KCNH6	HGNC	Q9H252	KCNH6_HUMAN					6	1509	+			UPI000012DCAB	477			Selectivity filter (By similarity).		SNV	KCNH6,missense_variant,p.Val477Met,ENST00000583023,NM_030779.3;KCNH6,missense_variant,p.Val424Met,ENST00000456941,NM_001278920.1;KCNH6,missense_variant,p.Val477Met,ENST00000314672,NM_001278919.1;KCNH6,missense_variant,p.Val424Met,ENST00000581784,NM_173092.2;KCNH6,missense_variant,p.Val477Met,ENST00000580652,;KCNH6,3_prime_UTR_variant,,ENST00000583465,;	uc002jay.2	c.1429G>A	1440/3821	2	2			c.1429G>A						17	SNP	c.(1429-1431)GTG>ATG	17	17			skin(1)	1	Broad	potassium voltage-gated channel, subfamily H,		Ibutilide(DB00308)	61613357		0.602	ENSG00000173826	7899	g.chr17:61613357G>A	regulation of transcription, DNA-dependent|signal transduction									75.802916	KEEP	13	20	-1	21	30	13	20	-1	76.281469	21	30	0.409091	1	0	0	0	0	1	0	0	0	--	--		0	A			KCNH6_uc002jax.1_Missense_Mutation_p.V477M|KCNH6_uc010wpl.1_Missense_Mutation_p.V354M|KCNH6_uc010wpm.1_Missense_Mutation_p.V477M|KCNH6_uc002jaz.1_Missense_Mutation_p.V424M	243	GBM-32-4208-TP	p.V477M	G	CCTCACCAGCGTGGGCTTCGG	NM_030779	NP_110406	61613357	Q9H252	KCNH6_HUMAN	0			6	1509	+	A	A			Missense_Mutation	477			Selectivity filter (By similarity).			
KCNH7	90134	broad.mit.edu	GRCh37	2	163302846	163302846	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-6389-01	TCGA-06-6389-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332142.5:c.1236G>C	p.Trp412Cys	p.W412C	ENST00000332142	NM_033272.3	412	tgG/tgC	0			1			G	W/C	uc002uch.1	protein_coding	YES	CCDS2219.1			1236/3591									ovary(3)|skin(2)	5	c.(1234-1236)TGG>TGC			Gene3D:1.10.287.70,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF466,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix	potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)			ENSP00000331727		16-Jul										16-Jul	.		ENST00000332142	Transcript			regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	ENSG00000184611	g.chr2:163302846C>G	18863			MODERATE		3.55	high	getma.org/?cm=msa&ty=f&p=KCNH7_HUMAN&rb=335&re=452&var=W412C	NA	getma.org/?cm=var&var=hg19,2,163302846,C,G&fts=all	W412C	--	--	1																																		KCNH7_uc002uci.2_Missense_Mutation_p.W405C		1		probably_damaging(0.998)	p.W412C	NM_033272	NP_150375		deleterious(0)		KCNH7_HUMAN	KCNH7	HGNC	Q9NS40	KCNH7_HUMAN					7	1448	-			UPI0000167D11	412			Cytoplasmic (Potential).		SNV	KCNH7,missense_variant,p.Trp412Cys,ENST00000332142,NM_033272.3;KCNH7,missense_variant,p.Trp405Cys,ENST00000328032,NM_173162.2;	uc002uch.1	c.1236G>C	1336/4113	3	3			c.1236G>C						2	SNP	c.(1234-1236)TGG>TGC	1	1			ovary(3)|skin(2)	5	Broad	potassium voltage-gated channel, subfamily H,		Ibutilide(DB00308)	163302846		0.458	ENSG00000184611	7900	g.chr2:163302846C>G	regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	GBM(196;1492 2208 17507 24132 45496)			GBM(196;1492 2208 17507 24132 45496)			21.03737	KEEP	3	6	-1	26	31	3	6	-1	28.080757	26	31	0.15	1	0	0	0	0	1	0	0	0	--	--		0	G			KCNH7_uc002uci.2_Missense_Mutation_p.W405C	105	GBM-06-6389-TP	p.W412C	C	GCAGGATAAGCCAGTCCCAGA	NM_033272	NP_150375	163302846	Q9NS40	KCNH7_HUMAN	0			7	1448	-	G	G			Missense_Mutation	412			Cytoplasmic (Potential).			
KCNH7	0	broad.mit.edu	GRCh37	2	163253351	163253351	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-41-3393-01	TCGA-41-3393-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332142.5:c.2512C>T	p.Arg838Ter	p.R838*	ENST00000332142	NM_033272.3	838	Cga/Tga	0			1			A	R/*	uc002uch.1	protein_coding	YES	CCDS2219.1			2512/3591									ovary(3)|skin(2)	5	c.(2512-2514)CGA>TGA			Gene3D:2.60.120.10,Pfam_domain:PF00027,PROSITE_profiles:PS50042,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF466,SMART_domains:SM00100,Superfamily_domains:SSF51206	potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)			ENSP00000331727		16-Nov									COSM3311427	16-Nov	.		ENST00000332142	Transcript			regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	ENSG00000184611	g.chr2:163253351G>A	18863			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,163253351,G,A&fts=all	R838*	--	--	1																																			1	1			p.R838*	NM_033272	NP_150375			1	KCNH7_HUMAN	KCNH7	HGNC	Q9NS40	KCNH7_HUMAN					11	2724	-			UPI0000167D11	838			Cytoplasmic (Potential).|cNMP.		SNV	KCNH7,stop_gained,p.Arg838Ter,ENST00000332142,NM_033272.3;	uc002uch.1	c.2512C>T	2612/4113	5	2			c.2512C>T						2	SNP	c.(2512-2514)CGA>TGA	45	45			ovary(3)|skin(2)	5	Broad	potassium voltage-gated channel, subfamily H,		Ibutilide(DB00308)	163253351		0.383	ENSG00000184611	7900	g.chr2:163253351G>A	regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	GBM(196;1492 2208 17507 24132 45496)			GBM(196;1492 2208 17507 24132 45496)			80.586686	KEEP	14	20	-1	44	55	14	20	-1	87.26868	44	55	0.254098	1	0	0	0	0	0	1	0	0	--	--		0	A				255	GBM-41-3393-TP	p.R838*	G	AAGTCTTCTCGCTGAATCTTA	NM_033272	NP_150375	163253351	Q9NS40	KCNH7_HUMAN	0			11	2724	-	A	A			Nonsense_Mutation	838			Cytoplasmic (Potential).|cNMP.			
KCNH8	131096	broad.mit.edu	GRCh37	3	19575121	19575121	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0158-01	TCGA-06-0158-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328405.2:c.2854A>T	p.Ser952Cys	p.S952C	ENST00000328405	NM_144633.2	952	Agt/Tgt	0			1			T	S/C	uc003cbk.1	protein_coding	YES	CCDS2632.1			2854/3324									lung(4)|ovary(1)	5	c.(2854-2856)AGT>TGT			hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF380	potassium voltage-gated channel, subfamily H,				ENSP00000328813		16/16									COSM2150137	16/16	.		ENST00000328405	Transcript				integral to membrane	two-component sensor activity	ENSG00000183960	g.chr3:19575121A>T	18864			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=KCNH8_HUMAN&rb=853&re=1105&var=S952C	NA	getma.org/?cm=var&var=hg19,3,19575121,A,T&fts=all	S952C	--	--	1																																		KCNH8_uc010hex.1_Missense_Mutation_p.S413C	1	1		benign(0.365)	p.S952C	NM_144633	NP_653234		deleterious_low_confidence(0.01)	1	KCNH8_HUMAN	KCNH8	HGNC	Q96L42	KCNH8_HUMAN					16	3049	+			UPI0000167D12	952			Ser-rich.|Cytoplasmic (Potential).		SNV	KCNH8,missense_variant,p.Ser952Cys,ENST00000328405,NM_144633.2;KCNH8,3_prime_UTR_variant,,ENST00000452398,;	uc003cbk.1	c.2854A>T	3120/5137	2	2			c.2854A>T						3	SNP	c.(2854-2856)AGT>TGT	29	29			lung(4)|ovary(1)	5	Broad	potassium voltage-gated channel, subfamily H,			19575121		0.532	ENSG00000183960	7901	g.chr3:19575121A>T		integral to membrane	two-component sensor activity	NSCLC(124;1625 1765 8018 24930 42026)			NSCLC(124;1625 1765 8018 24930 42026)			219.813137	KEEP	43	32	-1	58	58	43	32	-1	221.672784	58	58	0.391061	1	0	0	0	0	1	0	0	0	--	--		0	T			KCNH8_uc010hex.1_Missense_Mutation_p.S413C	29	GBM-06-0158-TP	p.S952C	A	ACTTTGTAGCAGTAATATCAC	NM_144633	NP_653234	19575121	Q96L42	KCNH8_HUMAN	0			16	3049	+	T	T			Missense_Mutation	952			Ser-rich.|Cytoplasmic (Potential).			
KCNH8	0	broad.mit.edu	GRCh37	3	19574895	19574895	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-19-5950-01	TCGA-19-5950-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328405.2:c.2628A>G	p.Thr876=	p.T876=	ENST00000328405	NM_144633.2	876	acA/acG	0		G:0.0008	1	G:0		G	T	uc003cbk.1	protein_coding	YES	CCDS2632.1			2628/3324									lung(4)|ovary(1)	5	c.(2626-2628)ACA>ACG			hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF380,Coiled-coils_(Ncoils):Coil	potassium voltage-gated channel, subfamily H,		G:0		ENSP00000328813	G:0	16/16	8.24E-06	9.62E-05							rs199880222,COSM2156583	16/16	.		ENST00000328405	Transcript		G:0.0002		integral to membrane	two-component sensor activity	ENSG00000183960	g.chr3:19574895A>G	18864			LOW								--	--	1																																		KCNH8_uc010hex.1_Silent_p.T337T	0,1	1			p.T876T	NM_144633	NP_653234	G:0		0,1	KCNH8_HUMAN	KCNH8	HGNC	Q96L42	KCNH8_HUMAN					16	2823	+			UPI0000167D12	876			Cytoplasmic (Potential).		SNV	KCNH8,synonymous_variant,p.=,ENST00000328405,NM_144633.2;KCNH8,3_prime_UTR_variant,,ENST00000452398,;	uc003cbk.1	c.2628A>G	2894/5137	3	3			c.2628A>G						3	SNP	c.(2626-2628)ACA>ACG	52	52			lung(4)|ovary(1)	5	Broad	potassium voltage-gated channel, subfamily H,			19574895		0.413	ENSG00000183960	7901	g.chr3:19574895A>G		integral to membrane	two-component sensor activity	NSCLC(124;1625 1765 8018 24930 42026)			NSCLC(124;1625 1765 8018 24930 42026)			65.582411	KEEP	13	12	-1	19	18	13	12	-1	66.10856	19	18	0.4	1	0	0	0	0	0	0	1	0	--	--		0	G			KCNH8_uc010hex.1_Silent_p.T337T	170	GBM-19-5950-TP	p.T876T	A	AGGTAACAACATTGACTCAGG	NM_144633	NP_653234	19574895	Q96L42	KCNH8_HUMAN	0			16	2823	+	G	G			Silent	876			Cytoplasmic (Potential).			
KCNH8	0	broad.mit.edu	GRCh37	3	19575088	19575088	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328405.2:c.2821G>A	p.Gly941Arg	p.G941R	ENST00000328405	NM_144633.2	941	Ggg/Agg	0		A:0	1	A:0		A	G/R	uc003cbk.1	protein_coding	YES	CCDS2632.1			2821/3324									lung(4)|ovary(1)	5	c.(2821-2823)GGG>AGG			hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF380	potassium voltage-gated channel, subfamily H,		A:0		ENSP00000328813	A:0	16/16	0.00014	9.61E-05		0.000464		3.00E-05		0.000606	rs527585599,COSM2947151	16/16	common_variant		ENST00000328405	Transcript		A:0.0002		integral to membrane	two-component sensor activity	ENSG00000183960	g.chr3:19575088G>A	18864			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=KCNH8_HUMAN&rb=853&re=1105&var=G941R	NA	getma.org/?cm=var&var=hg19,3,19575088,G,A&fts=all	G941R	--	--	1																																		KCNH8_uc010hex.1_Missense_Mutation_p.G402R	0,1	1		benign(0.001)	p.G941R	NM_144633	NP_653234	A:0.001	tolerated_low_confidence(0.08)	0,1	KCNH8_HUMAN	KCNH8	HGNC	Q96L42	KCNH8_HUMAN					16	3016	+			UPI0000167D12	941			Cytoplasmic (Potential).		SNV	KCNH8,missense_variant,p.Gly941Arg,ENST00000328405,NM_144633.2;KCNH8,3_prime_UTR_variant,,ENST00000452398,;	uc003cbk.1	c.2821G>A	3087/5137	2	2			c.2821G>A						3	SNP	c.(2821-2823)GGG>AGG	33	33			lung(4)|ovary(1)	5	Broad	potassium voltage-gated channel, subfamily H,			19575088		0.547	ENSG00000183960	7901	g.chr3:19575088G>A		integral to membrane	two-component sensor activity	NSCLC(124;1625 1765 8018 24930 42026)			NSCLC(124;1625 1765 8018 24930 42026)			91.569257	KEEP	12	18	-1	21	16	12	18	-1	91.65554	21	16	0.460317	1	0	0	0	0	1	0	0	0	--	--		0	A			KCNH8_uc010hex.1_Missense_Mutation_p.G402R	177	GBM-19-5959-TP	p.G941R	G	GCAAACAGGCGGGGCTGCTTA	NM_144633	NP_653234	19575088	Q96L42	KCNH8_HUMAN	0			16	3016	+	A	A			Missense_Mutation	941			Cytoplasmic (Potential).			
KCNH8	131096		GRCh37	3	19574969	19574969	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000328405.2:c.2702C>T	p.Pro901Leu	p.P901L	ENST00000328405	NM_144633.2	901	cCt/cTt	0																																																																																																																																																																																																																																												
KCNJ12	3768	broad.mit.edu	GRCh37	17	21319710	21319710	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0876-01	TCGA-06-0876-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000583088.1:c.1056C>T	p.Pro352=	p.P352=	ENST00000583088	NM_021012.4	352	ccC/ccT	0			1			T	P	uc002gyv.1	protein_coding		CCDS11219.1			1056/1302									ovary(3)|skin(1)	4	c.(1054-1056)CCC>CCT			hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF14,Pfam_domain:PF01007,Gene3D:2.60.40.1400,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81296,Prints_domain:PR01320	potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)			ENSP00000328150		3-Mar									COSM3402674	3-Mar	.		ENST00000331718	Transcript			blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	ENSG00000184185	g.chr17:21319710C>T	6258			LOW								--	--	1				Prostate(3;0.18)																															1				p.P352P	NM_021012	NP_066292			1	IRK12_HUMAN	KCNJ12	HGNC	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)			3	1761	+			UPI00000725C7	352			Cytoplasmic (By similarity).		SNV	KCNJ12,synonymous_variant,p.=,ENST00000583088,NM_021012.4;KCNJ12,synonymous_variant,p.=,ENST00000331718,NM_001194958.2;	uc002gyv.1	c.1056C>T	1426/2198	2	2			c.1056C>T						17	SNP	c.(1054-1056)CCC>CCT	17	17			ovary(3)|skin(1)	4	Broad	potassium inwardly-rectifying channel, subfamily		Dofetilide(DB00204)	21319710		0.567	ENSG00000184185	7909	g.chr17:21319710C>T	blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity							41.54042	KEEP	21	6	-1	89	100	21	6	-1	65.89034	89	100	0.13369	1	0	0	0	0	0	0	1	0	--	--	Prostate(3;0.18)	0	T				72	GBM-06-0876-TP	p.P352P	C	ATGAGGTGCCCTCTACGCCCC	NM_021012	NP_066292	21319710	Q14500	IRK12_HUMAN	0		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1761	+	T	T			Silent	352			Cytoplasmic (By similarity).			
KCNJ12	3768	broad.mit.edu	GRCh37	17	21319772	21319772	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-2563-01	TCGA-06-2563-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000583088.1:c.1118A>T	p.Asn373Ile	p.N373I	ENST00000583088	NM_021012.4	373	aAc/aTc	0			1			T	N/I	uc002gyv.1	protein_coding		CCDS11219.1			1118/1302									ovary(3)|skin(1)	4	c.(1117-1119)AAC>ATC			hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF14,Pfam_domain:PF01007,PIRSF_domain:PIRSF005465	potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)			ENSP00000328150		3-Mar									COSM3748009	3-Mar	.		ENST00000331718	Transcript			blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	ENSG00000184185	g.chr17:21319772A>T	6258			MODERATE		2.08	medium	getma.org/?cm=msa&ty=f&p=IRK12_HUMAN&rb=47&re=381&var=N373I	getma.org/pdb.php?prot=IRK12_HUMAN&from=47&to=381&var=N373I	getma.org/?cm=var&var=hg19,17,21319772,A,T&fts=all	N373I	--	--	1				Prostate(3;0.18)																															1			benign(0.43)	p.N373I	NM_021012	NP_066292		deleterious(0.04)	1	IRK12_HUMAN	KCNJ12	HGNC	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)			3	1823	+			UPI00000725C7	373			Cytoplasmic (By similarity).		SNV	KCNJ12,missense_variant,p.Asn373Ile,ENST00000583088,NM_021012.4;KCNJ12,missense_variant,p.Asn373Ile,ENST00000331718,NM_001194958.2;	uc002gyv.1	c.1118A>T	1488/2198	2	2			c.1118A>T						17	SNP	c.(1117-1119)AAC>ATC	32	32			ovary(3)|skin(1)	4	Broad	potassium inwardly-rectifying channel, subfamily		Dofetilide(DB00204)	21319772		0.622	ENSG00000184185	7909	g.chr17:21319772A>T	blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity							14.402362	KEEP	10	3	-1	56	42	10	3	-1	24.185781	56	42	0.133333	1	0	0	0	0	1	0	0	0	--	--	Prostate(3;0.18)	0	T				86	GBM-06-2563-TP	p.N373I	A	CCCAGCGCCAACTCCTTCTGC	NM_021012	NP_066292	21319772	Q14500	IRK12_HUMAN	0		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1823	+	T	T			Missense_Mutation	373			Cytoplasmic (By similarity).			
KCNJ12	3768	broad.mit.edu	GRCh37	17	21319341	21319341	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2564-01	TCGA-06-2564-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000583088.1:c.687C>T	p.Arg229=	p.R229=	ENST00000583088	NM_021012.4	229	cgC/cgT	0		T:0	1	T:0		T	R	uc002gyv.1	protein_coding		CCDS11219.1			687/1302									ovary(3)|skin(1)	4	c.(685-687)CGC>CGT			hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF14,Pfam_domain:PF01007,Gene3D:2.60.40.1400,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81296	potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)	T:0.004		ENSP00000328150	T:0	3-Mar	0.000189			0.00243		1.50E-05			rs569037483,COSM436190	3-Mar	common_variant		ENST00000331718	Transcript		T:0.0008	blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	ENSG00000184185	g.chr17:21319341C>T	6258			LOW								--	--	1				Prostate(3;0.18)																															0,1				p.R229R	NM_021012	NP_066292	T:0		0,1	IRK12_HUMAN	KCNJ12	HGNC	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)			3	1392	+			UPI00000725C7	229			Cytoplasmic (By similarity).		SNV	KCNJ12,synonymous_variant,p.=,ENST00000583088,NM_021012.4;KCNJ12,synonymous_variant,p.=,ENST00000331718,NM_001194958.2;	uc002gyv.1	c.687C>T	1057/2198	1	1			c.687C>T						17	SNP	c.(685-687)CGC>CGT	4	4			ovary(3)|skin(1)	4	Broad	potassium inwardly-rectifying channel, subfamily		Dofetilide(DB00204)	21319341		0.642	ENSG00000184185	7909	g.chr17:21319341C>T	blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity							13.241029	KEEP	5	6	-1	24	31	5	6	-1	19.383676	24	31	0.160714	1	0	0	0	0	0	0	1	0	--	--	Prostate(3;0.18)	0	T				87	GBM-06-2564-TP	p.R229R	C	CCCATGTGCGCGCGCAGCTCA	NM_021012	NP_066292	21319341	Q14500	IRK12_HUMAN	0		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1392	+	T	T			Silent	229			Cytoplasmic (By similarity).			
KCNJ12	0	broad.mit.edu	GRCh37	17	21318689	21318689	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-6698-01	TCGA-06-6698-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331718.5:c.35T>G	p.Ile12Ser	p.I12S	ENST00000331718	NM_001194958.2	12	aTc/aGc	0			1			G	I/S	uc002gyv.1	protein_coding		CCDS11219.1			35/1302									ovary(3)|skin(1)	4	c.(34-36)ATC>AGC			hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF14,Pfam_domain:PF08466	potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)			ENSP00000328150		3-Mar									COSM3402670	3-Mar	.		ENST00000331718	Transcript			blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	ENSG00000184185	g.chr17:21318689T>G	6258			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=IRK12_HUMAN&rb=2&re=46&var=I12S	getma.org/pdb.php?prot=IRK12_HUMAN&from=2&to=46&var=I12S	getma.org/?cm=var&var=hg19,17,21318689,T,G&fts=all	I12S	--	--	1				Prostate(3;0.18)																															1			possibly_damaging(0.902)	p.I12S	NM_021012	NP_066292		deleterious(0)	1	IRK12_HUMAN	KCNJ12	HGNC	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)			3	740	+			UPI00000725C7	12			Cytoplasmic (By similarity).		SNV	KCNJ12,missense_variant,p.Ile12Ser,ENST00000583088,NM_021012.4;KCNJ12,missense_variant,p.Ile12Ser,ENST00000331718,NM_001194958.2;	uc002gyv.1	c.35T>G	405/2198	3	3			c.35T>G						17	SNP	c.(34-36)ATC>AGC	8	8			ovary(3)|skin(1)	4	Broad	potassium inwardly-rectifying channel, subfamily		Dofetilide(DB00204)	21318689		0.711	ENSG00000184185	7909	g.chr17:21318689T>G	blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity							6.744822	KEEP	4	1	-1	19	24	4	1	-1	13.22239	19	24	0.113636	1	0	0	0	0	1	0	0	0	--	--	Prostate(3;0.18)	0	G				112	GBM-06-6698-TP	p.I12S	T	CCCTACAGCATCGTGTCATCG	NM_021012	NP_066292	21318689	Q14500	IRK12_HUMAN	0		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	740	+	G	G			Missense_Mutation	12			Cytoplasmic (By similarity).			
KCNJ12	0	broad.mit.edu	GRCh37	17	21319359	21319359	+	synonymous_variant	Silent	SNP	G	G	A	rs147653221	byFrequency	TCGA-14-1829-01	TCGA-14-1829-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331718.5:c.705G>A	p.Pro235=	p.P235=	ENST00000331718	NM_001194958.2	235	ccG/ccA	0	A:0.0025		1			A	P	uc002gyv.1	protein_coding		CCDS11219.1			705/1302									ovary(3)|skin(1)	4	c.(703-705)CCG>CCA			hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF14,Pfam_domain:PF01007,Gene3D:2.60.40.1400,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81296,Prints_domain:PR01325	potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)		A:0.0013	ENSP00000328150		3-Mar	0.00158	0.00425	0.00121	0.000231		0.00167	0.00111	0.000121	rs147653221,COSM3402673	3-Mar	common_variant		ENST00000331718	Transcript			blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	ENSG00000184185	g.chr17:21319359G>A	6258			LOW								--	--	1				Prostate(3;0.18)																															0,1				p.P235P	NM_021012	NP_066292			0,1	IRK12_HUMAN	KCNJ12	HGNC	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)			3	1410	+			UPI00000725C7	235			Cytoplasmic (By similarity).		SNV	KCNJ12,synonymous_variant,p.=,ENST00000583088,NM_021012.4;KCNJ12,synonymous_variant,p.=,ENST00000331718,NM_001194958.2;	uc002gyv.1	c.705G>A	1075/2198	2	2			c.705G>A						17	SNP	c.(703-705)CCG>CCA	48	48			ovary(3)|skin(1)	4	Broad	potassium inwardly-rectifying channel, subfamily		Dofetilide(DB00204)	21319359		0.632	ENSG00000184185	7909	g.chr17:21319359G>A	blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity							14.655692	KEEP	11	3	-1	55	52	11	3	-1	29.044439	55	52	0.118812	1	0	0	0	0	0	0	1	0	--	--	Prostate(3;0.18)	0	A				149	GBM-14-1829-TP	p.P235P	G	TCATCAAGCCGCGGGTCACCG	NM_021012	NP_066292	21319359	Q14500	IRK12_HUMAN	0		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1410	+	A	A			Silent	235			Cytoplasmic (By similarity).			
KCNJ12	0	broad.mit.edu	GRCh37	17	21319073	21319073	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-2571-01	TCGA-41-2571-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331718.5:c.419C>T	p.Thr140Met	p.T140M	ENST00000331718	NM_001194958.2	140	aCg/aTg	0		T:0	1	T:0		T	T/M	uc002gyv.1	protein_coding		CCDS11219.1			419/1302									ovary(3)|skin(1)	4	c.(418-420)ACG>ATG			Transmembrane_helices:TMhelix,hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF14,Pfam_domain:PF01007,Gene3D:1.10.287.70,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81324,Prints_domain:PR01320	potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)	T:0.001		ENSP00000328150	T:0	3-Mar	5.77E-05			0.000694					rs536297311,COSM3402672	3-Mar	common_variant		ENST00000331718	Transcript		T:0.0002	blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	ENSG00000184185	g.chr17:21319073C>T	6258			MODERATE		4.04	high	getma.org/?cm=msa&ty=f&p=IRK12_HUMAN&rb=47&re=381&var=T140M	getma.org/pdb.php?prot=IRK12_HUMAN&from=47&to=381&var=T140M	getma.org/?cm=var&var=hg19,17,21319073,C,T&fts=all	T140M	--	--	1				Prostate(3;0.18)																															0,1			probably_damaging(0.998)	p.T140M	NM_021012	NP_066292	T:0	deleterious(0)	0,1	IRK12_HUMAN	KCNJ12	HGNC	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)			3	1124	+			UPI00000725C7	140					SNV	KCNJ12,missense_variant,p.Thr140Met,ENST00000583088,NM_021012.4;KCNJ12,missense_variant,p.Thr140Met,ENST00000331718,NM_001194958.2;	uc002gyv.1	c.419C>T	789/2198	1	1			c.419C>T						17	SNP	c.(418-420)ACG>ATG	11	11			ovary(3)|skin(1)	4	Broad	potassium inwardly-rectifying channel, subfamily		Dofetilide(DB00204)	21319073		0.667	ENSG00000184185	7909	g.chr17:21319073C>T	blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity							20.357381	KEEP	4	9	-1	23	26	4	9	-1	22.762048	23	26	0.236842	1	0	0	0	0	1	0	0	0	--	--	Prostate(3;0.18)	0	T				250	GBM-41-2571-TP	p.T140M	C	TCCATCGAGACGCAGACCACC	NM_021012	NP_066292	21319073	Q14500	IRK12_HUMAN	0		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1124	+	T	T			Missense_Mutation	140						
KCNJ13	0	broad.mit.edu	GRCh37	2	233632952	233632952	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-27-2524-01	TCGA-27-2524-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000233826.3:c.1032T>C	p.Asn344=	p.N344=	ENST00000233826	NM_002242.4	344	aaT/aaC	0		G:0	1	G:0		G	N	uc002vto.2	protein_coding	YES	CCDS2498.1			1032/1083										0	c.(1030-1032)AAT>AAC			hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF3,PIRSF_domain:PIRSF005465,Prints_domain:PR01679	potassium inwardly-rectifying channel J13		G:0.001		ENSP00000233826	G:0	3-Mar	2.47E-05			0.000347					rs570363677,COSM3407670	3-Mar	.		ENST00000233826	Transcript	1	G:0.0002		voltage-gated potassium channel complex	inward rectifier potassium channel activity	ENSG00000115474	g.chr2:233632952A>G	6259			LOW								--	--	1																																		GIGYF2_uc010zmj.1_Intron|GIGYF2_uc002vtg.2_Intron|GIGYF2_uc002vtj.3_Intron|GIGYF2_uc002vti.3_Intron|GIGYF2_uc002vtk.3_Intron|GIGYF2_uc002vth.3_Intron|GIGYF2_uc010zmk.1_Intron|GIGYF2_uc010zml.1_Intron|KCNJ13_uc002vtn.2_3'UTR|KCNJ13_uc002vtp.2_Silent_p.N344N	0,1	1			p.N344N	NM_002242	NP_002233	G:0		0,1	IRK13_HUMAN	KCNJ13	HGNC	O60928	IRK13_HUMAN		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)	C9JWD6_HUMAN		2	1075	-		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)	UPI000012D8AF	344			Cytoplasmic (By similarity).		SNV	KCNJ13,synonymous_variant,p.=,ENST00000233826,NM_002242.4;KCNJ13,synonymous_variant,p.=,ENST00000410029,;KCNJ13,3_prime_UTR_variant,,ENST00000409779,NM_001172416.1;GIGYF2,5_prime_UTR_variant,,ENST00000421778,;GIGYF2,5_prime_UTR_variant,,ENST00000455139,;GIGYF2,intron_variant,,ENST00000373566,;GIGYF2,intron_variant,,ENST00000409547,NM_015575.3;GIGYF2,intron_variant,,ENST00000409480,NM_001103147.1;GIGYF2,intron_variant,,ENST00000409451,;GIGYF2,intron_variant,,ENST00000373563,NM_001103146.1;GIGYF2,intron_variant,,ENST00000409196,NM_001103148.1;GIGYF2,intron_variant,,ENST00000452341,;GIGYF2,intron_variant,,ENST00000440945,;GIGYF2,intron_variant,,ENST00000423659,;GIGYF2,intron_variant,,ENST00000445650,;GIGYF2,intron_variant,,ENST00000424414,;GIGYF2,intron_variant,,ENST00000436349,;KCNJ13,downstream_gene_variant,,ENST00000438786,;KCNJ13,downstream_gene_variant,,ENST00000444142,;AC064852.4,upstream_gene_variant,,ENST00000427571,;GIGYF2,intron_variant,,ENST00000463554,;GIGYF2,intron_variant,,ENST00000473170,;GIGYF2,intron_variant,,ENST00000475530,;GIGYF2,intron_variant,,ENST00000424038,;	uc002vto.2	c.1032T>C	1172/2950	3	3			c.1032T>C						2	SNP	c.(1030-1032)AAT>AAC	6	6				0	Broad	potassium inwardly-rectifying channel J13			233632952		0.383	ENSG00000115474	7910	g.chr2:233632952A>G		voltage-gated potassium channel complex	inward rectifier potassium channel activity							387.693602	KEEP	67	61	-1	93	88	67	61	-1	389.223609	93	88	0.422145	1	0	0	0	0	0	0	1	0	--	--		0	G			GIGYF2_uc010zmj.1_Intron|GIGYF2_uc002vtg.2_Intron|GIGYF2_uc002vtj.3_Intron|GIGYF2_uc002vti.3_Intron|GIGYF2_uc002vtk.3_Intron|GIGYF2_uc002vth.3_Intron|GIGYF2_uc010zmk.1_Intron|GIGYF2_uc010zml.1_Intron|KCNJ13_uc002vtn.2_3'UTR|KCNJ13_uc002vtp.2_Silent_p.N344N	202	GBM-27-2524-TP	p.N344N	A	TGCTTTGTCCATTGATGTGGA	NM_002242	NP_002233	233632952	O60928	IRK13_HUMAN	0		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)	2	1075	-	G	G		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)	Silent	344			Cytoplasmic (By similarity).			
KCNJ15	3772	broad.mit.edu	GRCh37	21	39671533	39671533	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0749-01	TCGA-06-0749-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328656.4:c.350C>T	p.Ala117Val	p.A117V	ENST00000328656	NM_002243.4	117	gCg/gTg	0			1			T	A/V	uc002ywv.2	protein_coding	YES	CCDS13656.1			350/1128									ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6	c.(349-351)GCG>GTG			hmmpanther:PTHR11767:SF20,hmmpanther:PTHR11767,Gene3D:1.10.287.70,Pfam_domain:PF01007,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81324,Prints_domain:PR01320	potassium inwardly-rectifying channel J15				ENSP00000331698		4-Apr	8.24E-06					1.50E-05			rs772620107,COSM2151868	4-Apr	.		ENST00000328656	Transcript			synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity	ENSG00000157551	g.chr21:39671533C>T	6261			MODERATE		3.195	medium	getma.org/?cm=msa&ty=f&p=IRK15_HUMAN&rb=30&re=365&var=A117V	getma.org/pdb.php?prot=IRK15_HUMAN&from=30&to=365&var=A117V	getma.org/?cm=var&var=hg19,21,39671533,C,T&fts=all	A117V	--	--	1																																		KCNJ15_uc002yww.2_Missense_Mutation_p.A117V|KCNJ15_uc002ywx.2_Missense_Mutation_p.A117V	0,1	1		probably_damaging(0.999)	p.A117V	NM_002243	NP_002234		deleterious(0)	0,1	IRK15_HUMAN	KCNJ15	HGNC	Q99712	IRK15_HUMAN			F8VX74_HUMAN,F8VW46_HUMAN,E7EWV2_HUMAN,E7EPG3_HUMAN,C9JTX1_HUMAN,A8MVK1_HUMAN,A8MTZ5_HUMAN		4	652	+			UPI000006E337	117					SNV	KCNJ15,missense_variant,p.Ala117Val,ENST00000328656,NM_002243.4,NM_001276438.1,NM_001276437.1,NM_001276439.1;KCNJ15,missense_variant,p.Ala117Val,ENST00000398930,;KCNJ15,missense_variant,p.Ala117Val,ENST00000398932,;KCNJ15,missense_variant,p.Ala117Val,ENST00000398934,NM_001276436.1,NM_001276435.1,NM_170737.2;KCNJ15,missense_variant,p.Ala117Val,ENST00000398938,NM_170736.2;KCNJ15,missense_variant,p.Ala117Val,ENST00000438657,;KCNJ15,missense_variant,p.Ala117Val,ENST00000398928,;KCNJ15,missense_variant,p.Ala117Val,ENST00000398927,;KCNJ15,missense_variant,p.Ala117Val,ENST00000419868,;KCNJ15,downstream_gene_variant,,ENST00000549805,;KCNJ15,downstream_gene_variant,,ENST00000417042,;KCNJ15,downstream_gene_variant,,ENST00000443341,;KCNJ15,downstream_gene_variant,,ENST00000549158,;KCNJ15,downstream_gene_variant,,ENST00000547341,;KCNJ15,downstream_gene_variant,,ENST00000549932,;KCNJ15,downstream_gene_variant,,ENST00000398925,;KCNJ15,downstream_gene_variant,,ENST00000551422,;KCNJ15,downstream_gene_variant,,ENST00000547595,;KCNJ15,downstream_gene_variant,,ENST00000548700,;	uc002ywv.2	c.350C>T	653/8399	2	2			c.350C>T						21	SNP	c.(349-351)GCG>GTG	46	46			ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6	Broad	potassium inwardly-rectifying channel J15			39671533		0.493	ENSG00000157551	7912	g.chr21:39671533C>T	synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity							170.826444	KEEP	39	27	-1	75	54	39	27	-1	175.198335	75	54	0.335165	1	0	0	0	0	1	0	0	0	--	--		0	T			KCNJ15_uc002yww.2_Missense_Mutation_p.A117V|KCNJ15_uc002ywx.2_Missense_Mutation_p.A117V	69	GBM-06-0749-TP	p.A117V	C	CTCACTGGGGCGTTTCTCTTT	NM_002243	NP_002234	39671533	Q99712	IRK15_HUMAN	0			4	652	+	T	T			Missense_Mutation	117						
KCNJ16	0	broad.mit.edu	GRCh37	17	68128948	68128948	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-27-1838-01	TCGA-27-1838-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283936.1:c.720A>T	p.Leu240Phe	p.L240F	ENST00000283936	NM_018658.2	240	ttA/ttT	0			1			T	L/F	uc002jin.2	protein_coding		CCDS11687.1			720/1257									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(718-720)TTA>TTT			Superfamily_domains:SSF81296,PIRSF_domain:PIRSF005465,Gene3D:2.60.40.1400,Pfam_domain:PF01007,hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF24	potassium inwardly-rectifying channel J16				ENSP00000283936		5-May									COSM3403165	5-May	.		ENST00000283936	Transcript			synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	ENSG00000153822	g.chr17:68128948A>T	6262			MODERATE		0.87	low	getma.org/?cm=msa&ty=f&p=IRK16_HUMAN&rb=37&re=368&var=L240F	getma.org/pdb.php?prot=IRK16_HUMAN&from=37&to=368&var=L240F	getma.org/?cm=var&var=hg19,17,68128948,A,T&fts=all	L240F	--	--	1																																		KCNJ16_uc002jio.2_Missense_Mutation_p.L240F|KCNJ16_uc002jip.2_Missense_Mutation_p.L240F|KCNJ16_uc002jiq.2_Missense_Mutation_p.L272F	1			probably_damaging(1)	p.L240F	NM_018658	NP_061128		deleterious(0.03)	1	IRK16_HUMAN	KCNJ16	HGNC	Q9NPI9	IRK16_HUMAN			K7ELL5_HUMAN,K7EKJ4_HUMAN		5	1206	+	Breast(10;2.96e-09)		UPI000012D8B3	240			Cytoplasmic (By similarity).		SNV	KCNJ16,missense_variant,p.Leu275Phe,ENST00000585558,;KCNJ16,missense_variant,p.Leu240Phe,ENST00000392670,;KCNJ16,missense_variant,p.Leu240Phe,ENST00000283936,NM_018658.2;KCNJ16,missense_variant,p.Leu240Phe,ENST00000392671,NM_170741.2;KCNJ16,missense_variant,p.Leu240Phe,ENST00000589377,NM_001270422.1;KCNJ16,missense_variant,p.Leu279Phe,ENST00000586462,;KCNJ16,downstream_gene_variant,,ENST00000587698,;KCNJ16,downstream_gene_variant,,ENST00000587892,;KCNJ16,downstream_gene_variant,,ENST00000591891,;AC002539.1,upstream_gene_variant,,ENST00000435112,;	uc002jin.2	c.720A>T	1206/4002	1	1			c.720A>T						17	SNP	c.(718-720)TTA>TTT	1	1			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	potassium inwardly-rectifying channel J16			68128948		0.483	ENSG00000153822	7913	g.chr17:68128948A>T	synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity							-20.867418	KEEP	9	6	-1	116	149	9	6	-1	32.742423	116	149	0.057471	1	0	0	0	0	1	0	0	0	--	--		0	T			KCNJ16_uc002jio.2_Missense_Mutation_p.L240F|KCNJ16_uc002jip.2_Missense_Mutation_p.L240F|KCNJ16_uc002jiq.2_Missense_Mutation_p.L272F	197	GBM-27-1838-TP	p.L240F	A	ACCTCAAATTAGTCAACGACC	NM_018658	NP_061128	68128948	Q9NPI9	IRK16_HUMAN	0			5	1206	+	T	T	Breast(10;2.96e-09)		Missense_Mutation	240			Cytoplasmic (By similarity).			
KCNJ16	0	broad.mit.edu	GRCh37	17	68128849	68128849	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-2502-01	TCGA-28-2502-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283936.1:c.621G>A	p.Arg207=	p.R207=	ENST00000283936	NM_018658.2	207	cgG/cgA	0			1			A	R	uc002jin.2	protein_coding		CCDS11687.1			621/1257									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(619-621)CGG>CGA			Superfamily_domains:SSF81296,PIRSF_domain:PIRSF005465,Gene3D:2.60.40.1400,Pfam_domain:PF01007,hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF24	potassium inwardly-rectifying channel J16				ENSP00000283936		5-May									COSM3403164	5-May	.		ENST00000283936	Transcript			synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	ENSG00000153822	g.chr17:68128849G>A	6262			LOW								--	--	1																																		KCNJ16_uc002jio.2_Silent_p.R207R|KCNJ16_uc002jip.2_Silent_p.R207R|KCNJ16_uc002jiq.2_Silent_p.R239R	1				p.R207R	NM_018658	NP_061128			1	IRK16_HUMAN	KCNJ16	HGNC	Q9NPI9	IRK16_HUMAN			K7ELL5_HUMAN,K7EKJ4_HUMAN		5	1107	+	Breast(10;2.96e-09)		UPI000012D8B3	207			Cytoplasmic (By similarity).		SNV	KCNJ16,synonymous_variant,p.=,ENST00000585558,;KCNJ16,synonymous_variant,p.=,ENST00000392670,;KCNJ16,synonymous_variant,p.=,ENST00000283936,NM_018658.2;KCNJ16,synonymous_variant,p.=,ENST00000392671,NM_170741.2;KCNJ16,synonymous_variant,p.=,ENST00000589377,NM_001270422.1;KCNJ16,synonymous_variant,p.=,ENST00000586462,;KCNJ16,downstream_gene_variant,,ENST00000587698,;KCNJ16,downstream_gene_variant,,ENST00000587892,;KCNJ16,downstream_gene_variant,,ENST00000591891,;AC002539.1,upstream_gene_variant,,ENST00000435112,;	uc002jin.2	c.621G>A	1107/4002	1	1			c.621G>A						17	SNP	c.(619-621)CGG>CGA	59	59			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	potassium inwardly-rectifying channel J16			68128849		0.468	ENSG00000153822	7913	g.chr17:68128849G>A	synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity							-31.335373	KEEP	2	3	-1	71	88	2	3	-1	6.391984	71	88	0.026316	1	0	0	0	0	0	0	1	0	--	--		0	A			KCNJ16_uc002jio.2_Silent_p.R207R|KCNJ16_uc002jip.2_Silent_p.R207R|KCNJ16_uc002jiq.2_Silent_p.R239R	210	GBM-28-2502-TP	p.R207R	G	GTGATTTTCGGCCAAACCACG	NM_018658	NP_061128	68128849	Q9NPI9	IRK16_HUMAN	0			5	1107	+	A	A	Breast(10;2.96e-09)		Silent	207			Cytoplasmic (By similarity).			
KCNJ3	3760	broad.mit.edu	GRCh37	2	155711294	155711294	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0209-01	TCGA-06-0209-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295101.2:c.975T>C	p.His325=	p.H325=	ENST00000295101	NM_002239.3	325	caT/caC	0			1			C	H	uc002tyv.1	protein_coding	YES	CCDS2200.1			975/1506									upper_aerodigestive_tract(1)|pancreas(1)	2	c.(973-975)CAT>CAC			hmmpanther:PTHR11767:SF16,hmmpanther:PTHR11767,Pfam_domain:PF01007,Gene3D:2.60.40.1400,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81296,Prints_domain:PR01320	potassium inwardly-rectifying channel J3	Halothane(DB01159)			ENSP00000295101		3-Mar									COSM3406953	3-Mar	.		ENST00000295101	Transcript			synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	ENSG00000162989	g.chr2:155711294T>C	6264			LOW								--	--	1																																		KCNJ3_uc010zce.1_3'UTR	1	1			p.H325H	NM_002239	NP_002230			1	IRK3_HUMAN	KCNJ3	HGNC	P48549	IRK3_HUMAN			Q53R59_HUMAN		3	1170	+			UPI000012D899	325			Cytoplasmic (By similarity).		SNV	KCNJ3,synonymous_variant,p.=,ENST00000295101,NM_002239.3,NM_001260509.1;KCNJ3,3_prime_UTR_variant,,ENST00000544049,NM_001260508.1;KCNJ3,non_coding_transcript_exon_variant,,ENST00000493505,;	uc002tyv.1	c.975T>C	1452/5021	3	3			c.975T>C						2	SNP	c.(973-975)CAT>CAC	57	57			upper_aerodigestive_tract(1)|pancreas(1)	2	Broad	potassium inwardly-rectifying channel J3		Halothane(DB01159)	155711294		0.383	ENSG00000162989	7915	g.chr2:155711294T>C	synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding							112.664552	KEEP	24	21	-1	81	68	24	21	-1	124.226477	81	68	0.22619	1	0	0	0	0	0	0	1	0	--	--		0	C			KCNJ3_uc010zce.1_3'UTR	46	GBM-06-0209-TP	p.H325H	T	TTTGGGGTCATCGTTTTTTTC	NM_002239	NP_002230	155711294	P48549	IRK3_HUMAN	0			3	1170	+	C	C			Silent	325			Cytoplasmic (By similarity).			
KCNJ4	3761		GRCh37	22	38823844	38823844	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000303592.3:c.294C>G	p.Gly98=	p.G98=	ENST00000303592	NM_152868.2	98	ggC/ggG	0																																																																																																																																																																																																																																												
KCNJ5	3762	broad.mit.edu	GRCh37	11	128781583	128781583	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0237-01	TCGA-06-0237-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000529694.1:c.415G>A	p.Ala139Thr	p.A139T	ENST00000529694	NM_000890.3	139	Gct/Act	0		A:0	1	A:0		A	A/T	uc001qet.2	protein_coding		CCDS8479.1			415/1260									skin(1)	1	c.(415-417)GCT>ACT			Prints_domain:PR01320,Superfamily_domains:SSF81324,PIRSF_domain:PIRSF005465,Gene3D:1.10.287.70,Pfam_domain:PF01007,hmmpanther:PTHR11767:SF18,hmmpanther:PTHR11767	potassium inwardly-rectifying channel J5	Glibenclamide(DB01016)	A:0.001		ENSP00000339960	A:0	4-Mar	1.65E-05			0.000116		1.50E-05			rs201816501,COSM2151031	4-Mar	.		ENST00000338350	Transcript	1	A:0.0002	synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	ENSG00000120457	g.chr11:128781583G>A	6266			MODERATE		3.24	medium	getma.org/?cm=msa&ty=f&p=IRK5_HUMAN&rb=54&re=385&var=A139T	getma.org/pdb.php?prot=IRK5_HUMAN&from=54&to=385&var=A139T	getma.org/?cm=var&var=hg19,11,128781583,G,A&fts=all	A139T	--	--	1																																		KCNJ5_uc009zck.2_Missense_Mutation_p.A139T|KCNJ5_uc001qew.2_Missense_Mutation_p.A139T	0,1			probably_damaging(0.999)	p.A139T	NM_000890	NP_000881	A:0	deleterious(0.01)	0,1	IRK5_HUMAN	KCNJ5	HGNC	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	H9A8L0_HUMAN,H9A8K9_HUMAN		2	729	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	UPI000013D428	139					SNV	KCNJ5,missense_variant,p.Ala139Thr,ENST00000529694,NM_000890.3;KCNJ5,missense_variant,p.Ala139Thr,ENST00000338350,;KCNJ5,missense_variant,p.Ala139Thr,ENST00000533599,;	uc001qet.2	c.415G>A	767/1734	2	2			c.415G>A						11	SNP	c.(415-417)GCT>ACT	17	17			skin(1)	1	Broad	potassium inwardly-rectifying channel J5		Glibenclamide(DB01016)	128781583		0.507	ENSG00000120457	7917	g.chr11:128781583G>A	synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)			Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)			299.879996	KEEP	66	45	-1	55	50	66	45	-1	300.311909	55	50	0.551913	1	0	0	0	0	1	0	0	0	--	--		0	A			KCNJ5_uc009zck.2_Missense_Mutation_p.A139T|KCNJ5_uc001qew.2_Missense_Mutation_p.A139T	54	GBM-06-0237-TP	p.A139T	G	CTTCGTGTCCGCTTTCCTGTT	NM_000890	NP_000881	128781583	P48544	IRK5_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	2	729	+	A	A	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	Missense_Mutation	139						
KCNJ5	3762		GRCh37	11	128786516	128786516	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000529694.1:c.1150C>T	p.Pro384Ser	p.P384S	ENST00000529694	NM_000890.3	384	Cca/Tca	0																																																																																																																																																																																																																																												
KCNK1	3775		GRCh37	1	233802400	233802400	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000366621.3:c.415G>A	p.Val139Ile	p.V139I	ENST00000366621	NM_002245.3	139	Gtc/Atc	0																																																																																																																																																																																																																																												
KCNK10	54207	broad.mit.edu	GRCh37	14	88654322	88654322	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-2562-01	TCGA-06-2562-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319231.5:c.1000A>G	p.Thr334Ala	p.T334A	ENST00000319231	NM_138317.2	334	Aca/Gca	0			1			C	T/A	uc001xwo.2	protein_coding		CCDS9880.1			985/1617									ovary(2)|skin(2)|pancreas(1)	5	c.(985-987)ACA>GCA			Prints_domain:PR01499,Superfamily_domains:SSF81324,Gene3D:1.10.287.70,hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF32	potassium channel, subfamily K, member 10				ENSP00000343104		7-Jun									COSM2152818,COSM2152816,COSM2152817	7-Jun	.		ENST00000340700	Transcript			signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	ENSG00000100433	g.chr14:88654322T>C	6273			MODERATE		1.75	low	getma.org/?cm=msa&ty=f&p=KCNKA_HUMAN&rb=325&re=524&var=T329A	NA	getma.org/?cm=var&var=hg19,14,88654322,T,C&fts=all	T329A	--	--	1																																		KCNK10_uc001xwm.2_Missense_Mutation_p.T334A|KCNK10_uc001xwn.2_Missense_Mutation_p.T334A	1,1,1			probably_damaging(0.996)	p.T329A	NM_021161	NP_066984		deleterious(0.01)	1,1,1	KCNKA_HUMAN	KCNK10	HGNC	P57789	KCNKA_HUMAN					6	1442	-			UPI0000049834	329			Cytoplasmic (Potential).		SNV	KCNK10,missense_variant,p.Thr329Ala,ENST00000340700,NM_021161.4;KCNK10,missense_variant,p.Thr334Ala,ENST00000319231,NM_138317.2;KCNK10,missense_variant,p.Thr334Ala,ENST00000312350,NM_138318.2;	uc001xwo.2	c.985A>G	1437/4835	3	3			c.985A>G						14	SNP	c.(985-987)ACA>GCA	1	1			ovary(2)|skin(2)|pancreas(1)	5	Broad	potassium channel, subfamily K, member 10			88654322		0.493	ENSG00000100433	7922	g.chr14:88654322T>C	signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity							277.675423	KEEP	43	50	-1	75	85	43	50	-1	281.229325	75	85	0.367965	1	0	0	0	0	1	0	0	0	--	--		0	C			KCNK10_uc001xwm.2_Missense_Mutation_p.T334A|KCNK10_uc001xwn.2_Missense_Mutation_p.T334A	85	GBM-06-2562-TP	p.T329A	T	TCTTCTTTTGTCTTTTTGGAC	NM_021161	NP_066984	88654322	P57789	KCNKA_HUMAN	0			6	1442	-	C	C			Missense_Mutation	329			Cytoplasmic (Potential).			
KCNK10	0	broad.mit.edu	GRCh37	14	88652226	88652226	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340700.5:c.1270C>T	p.Arg424Cys	p.R424C	ENST00000340700	NM_021161.4	424	Cgc/Tgc	0	A:0		1			A	R/C	uc001xwo.2	protein_coding		CCDS9880.1			1270/1617									ovary(2)|skin(2)|pancreas(1)	5	c.(1270-1272)CGC>TGC			hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF32	potassium channel, subfamily K, member 10			A:0.0002	ENSP00000343104		7-Jul	2.47E-05					4.50E-05			rs373732858,COSM3401498,COSM3401497,COSM3401496	7-Jul	.		ENST00000340700	Transcript			signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	ENSG00000100433	g.chr14:88652226G>A	6273			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=KCNKA_HUMAN&rb=325&re=524&var=R424C	NA	getma.org/?cm=var&var=hg19,14,88652226,G,A&fts=all	R424C	--	--	1																																		KCNK10_uc001xwm.2_Missense_Mutation_p.R429C|KCNK10_uc001xwn.2_Missense_Mutation_p.R429C	0,1,1,1			possibly_damaging(0.855)	p.R424C	NM_021161	NP_066984		deleterious_low_confidence(0)	0,1,1,1	KCNKA_HUMAN	KCNK10	HGNC	P57789	KCNKA_HUMAN					7	1727	-			UPI0000049834	424			Cytoplasmic (Potential).		SNV	KCNK10,missense_variant,p.Arg424Cys,ENST00000340700,NM_021161.4;KCNK10,missense_variant,p.Arg429Cys,ENST00000319231,NM_138317.2;KCNK10,missense_variant,p.Arg429Cys,ENST00000312350,NM_138318.2;	uc001xwo.2	c.1270C>T	1722/4835	2	2			c.1270C>T						14	SNP	c.(1270-1272)CGC>TGC	26	26			ovary(2)|skin(2)|pancreas(1)	5	Broad	potassium channel, subfamily K, member 10			88652226		0.607	ENSG00000100433	7922	g.chr14:88652226G>A	signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity							26.596211	KEEP	11	8	-1	60	63	11	8	-1	41.13742	60	63	0.147541	1	0	0	0	0	1	0	0	0	--	--		0	A			KCNK10_uc001xwm.2_Missense_Mutation_p.R429C|KCNK10_uc001xwn.2_Missense_Mutation_p.R429C	213	GBM-28-2513-TP	p.R424C	G	CCCTTCAGGCGCAGGTTGTTG	NM_021161	NP_066984	88652226	P57789	KCNKA_HUMAN	0			7	1727	-	A	A			Missense_Mutation	424			Cytoplasmic (Potential).			
KCNK13	0	broad.mit.edu	GRCh37	14	90528848	90528848	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1823-01	TCGA-14-1823-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282146.4:c.299C>T	p.Ala100Val	p.A100V	ENST00000282146	NM_022054.3	100	gCc/gTc	0			1			T	A/V	uc001xye.1	protein_coding	YES	CCDS9889.1			299/1227									skin(1)	1	c.(298-300)GCC>GTC			Gene3D:1.10.287.70,Pfam_domain:PF07885,hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF57,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix	potassium channel, subfamily K, member 13				ENSP00000282146		2-Jan									COSM3401508	2-Jan	.		ENST00000282146	Transcript				integral to membrane	potassium channel activity|voltage-gated ion channel activity	ENSG00000152315	g.chr14:90528848C>T	6275			MODERATE		3.095	medium	getma.org/?cm=msa&ty=f&p=KCNKD_HUMAN&rb=77&re=151&var=A100V	getma.org/pdb.php?prot=KCNKD_HUMAN&from=77&to=151&var=A100V	getma.org/?cm=var&var=hg19,14,90528848,C,T&fts=all	A100V	--	--	1																																			1	1		probably_damaging(0.994)	p.A100V	NM_022054	NP_071337		deleterious(0)	1	KCNKD_HUMAN	KCNK13	HGNC	Q9HB14	KCNKD_HUMAN			B5TJL8_HUMAN		1	741	+		all_cancers(154;0.186)	UPI0000127A55	100					SNV	KCNK13,missense_variant,p.Ala100Val,ENST00000282146,NM_022054.3;	uc001xye.1	c.299C>T	740/2522	2	2			c.299C>T						14	SNP	c.(298-300)GCC>GTC	30	30			skin(1)	1	Broad	potassium channel, subfamily K, member 13			90528848		0.692	ENSG00000152315	7924	g.chr14:90528848C>T		integral to membrane	potassium channel activity|voltage-gated ion channel activity							11.897762	KEEP	3	1	-1	1	5	3	1	-1	11.985294	1	5	0.4	1	0	0	0	0	1	0	0	0	--	--		0	T				147	GBM-14-1823-TP	p.A100V	C	TTCACCGGCGCCTTCTACTTC	NM_022054	NP_071337	90528848	Q9HB14	KCNKD_HUMAN	0			1	741	+	T	T		all_cancers(154;0.186)	Missense_Mutation	100						
KCNK13	0	broad.mit.edu	GRCh37	14	90650893	90650893	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01	TCGA-32-2494-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282146.4:c.773G>A	p.Arg258His	p.R258H	ENST00000282146	NM_022054.3	258	cGc/cAc	0			1			A	R/H	uc001xye.1	protein_coding	YES	CCDS9889.1			773/1227									skin(1)	1	c.(772-774)CGC>CAC			Gene3D:1.10.287.70,Pfam_domain:PF07885,hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF57,Superfamily_domains:SSF81324	potassium channel, subfamily K, member 13				ENSP00000282146		2-Feb	8.24E-06			0.000116					rs769579882,COSM3401509	2-Feb	.		ENST00000282146	Transcript				integral to membrane	potassium channel activity|voltage-gated ion channel activity	ENSG00000152315	g.chr14:90650893G>A	6275			MODERATE		3.49	medium	getma.org/?cm=msa&ty=f&p=KCNKD_HUMAN&rb=195&re=285&var=R258H	getma.org/pdb.php?prot=KCNKD_HUMAN&from=195&to=285&var=R258H	getma.org/?cm=var&var=hg19,14,90650893,G,A&fts=all	R258H	--	--	1																																			0,1	1		benign(0.426)	p.R258H	NM_022054	NP_071337		deleterious(0.02)	0,1	KCNKD_HUMAN	KCNK13	HGNC	Q9HB14	KCNKD_HUMAN			B5TJL8_HUMAN		2	1215	+		all_cancers(154;0.186)	UPI0000127A55	258					SNV	KCNK13,missense_variant,p.Arg258His,ENST00000282146,NM_022054.3;	uc001xye.1	c.773G>A	1214/2522	2	2			c.773G>A						14	SNP	c.(772-774)CGC>CAC	47	47			skin(1)	1	Broad	potassium channel, subfamily K, member 13			90650893		0.493	ENSG00000152315	7924	g.chr14:90650893G>A		integral to membrane	potassium channel activity|voltage-gated ion channel activity							113.125927	KEEP	19	28	-1	65	67	19	28	-1	121.076347	65	67	0.268293	1	0	0	0	0	1	0	0	0	--	--		0	A				236	GBM-32-2494-TP	p.R258H	G	GGCCTCTATCGCTTTGCCAAC	NM_022054	NP_071337	90650893	Q9HB14	KCNKD_HUMAN	0			2	1215	+	A	A		all_cancers(154;0.186)	Missense_Mutation	258						
KCNK16	83795	broad.mit.edu	GRCh37	6	39285601	39285601	+	synonymous_variant	Silent	SNP	G	G	A	rs79043904		TCGA-06-2570-01	TCGA-06-2570-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000425054.2:c.456C>T	p.Ala152=	p.A152=	ENST00000425054	NM_001135105.1	152	gcC/gcT	0	A:0.0009	A:0	1	A:0.0014		A	A	uc003ooq.2	protein_coding		CCDS4843.1			456/930									ovary(2)|skin(1)	3	c.(454-456)GCC>GCT			hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF56,Superfamily_domains:SSF81324,Superfamily_domains:SSF81324	potassium channel, subfamily K, member 16		A:0.0099	A:0	ENSP00000362326	A:0	6-Mar	0.000915	0.00153	0.00101	0.0136		4.38E-05		0.000737	rs79043904,COSM2153102,COSM2153101,COSM2153103	6-Mar	common_variant		ENST00000373229	Transcript		A:0.0022		integral to membrane	potassium channel activity|voltage-gated ion channel activity	ENSG00000095981	g.chr6:39285601G>A	14464			LOW								--	--	1																																		KCNK16_uc003oor.3_Silent_p.A152A|KCNK16_uc010jwy.2_Silent_p.A152A|KCNK16_uc011dtz.1_Silent_p.A152A	0,1,1,1				p.A152A	NM_032115	NP_115491	A:0		0,1,1,1	KCNKG_HUMAN	KCNK16	HGNC	Q96T55	KCNKG_HUMAN					3	470	-			UPI0000127A58	152			Cytoplasmic (Potential).		SNV	KCNK16,synonymous_variant,p.=,ENST00000425054,NM_001135105.1;KCNK16,synonymous_variant,p.=,ENST00000373229,NM_032115.3;KCNK16,synonymous_variant,p.=,ENST00000437525,NM_001135106.1;KCNK16,synonymous_variant,p.=,ENST00000507712,;KCNK16,synonymous_variant,p.=,ENST00000373227,NM_001135107.1;KCNK17,upstream_gene_variant,,ENST00000453413,NM_001135111.1;KCNK17,upstream_gene_variant,,ENST00000373231,NM_031460.3;KCNK17,upstream_gene_variant,,ENST00000503878,;	uc003ooq.2	c.456C>T	470/1248	2	2			c.456C>T						6	SNP	c.(454-456)GCC>GCT	24	24			ovary(2)|skin(1)	3	Broad	potassium channel, subfamily K, member 16			39285601		0.552	ENSG00000095981	7926	g.chr6:39285601G>A		integral to membrane	potassium channel activity|voltage-gated ion channel activity							48.759278	KEEP	8	9	-1	7	7	8	9	-1	49.724159	7	7	0.736842	1	0	0	0	0	0	0	1	0	--	--		0	A			KCNK16_uc003oor.3_Silent_p.A152A|KCNK16_uc010jwy.2_Silent_p.A152A|KCNK16_uc011dtz.1_Silent_p.A152A	91	GBM-06-2570-TP	p.A152A	G	TTTCAATGGCGGCCAGATGGG	NM_032115	NP_115491	39285601	Q96T55	KCNKG_HUMAN	0			3	470	-	A	A			Silent	152			Cytoplasmic (Potential).			
KCNK16	0	broad.mit.edu	GRCh37	6	39282798	39282814	+	frameshift_variant	Frame_Shift_Del	DEL	TGGATATGGGGAAGTCC	TGGATATGGGGAAGTCC	-	rs11756091;rs147542213	byFrequency;by1000genomes;byFrequency	TCGA-27-1838-01	TCGA-27-1838-01	TGGATATGGGGAAGTCC	TGGATATGGGGAAGTCC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373229.5:c.894_910delGGACTTCCCCATATCCA	p.Asp299GlufsTer23	p.D299Efs*23	ENST00000373229	NM_032115.3	298	caGGACTTCCCCATATCCAag/caag	0			1			-	QDFPISK/QX	uc003ooq.2	protein_coding		CCDS4843.1			894-910/930									ovary(2)|skin(1)	3	c.(892-912)CAGGACTTCCCCATATCCAAGfs			hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF56	potassium channel, subfamily K, member 16				ENSP00000362326		6-Jun										6-Jun	.		ENST00000373229	Transcript				integral to membrane	potassium channel activity|voltage-gated ion channel activity	ENSG00000095981	g.chr6:39282798_39282814delTGGATATGGGGAAGTCC	14464			HIGH								--	--	1																																		KCNK17_uc003ooo.2_5'Flank|KCNK17_uc003oop.2_5'Flank|KCNK16_uc003oor.3_3'UTR|KCNK16_uc010jwy.2_Frame_Shift_Del_p.Q251fs					p.Q298fs	NM_032115	NP_115491				KCNKG_HUMAN	KCNK16	HGNC	Q96T55	KCNKG_HUMAN					6	908_924	-			UPI0000127A58	298_304			Cytoplasmic (Potential).		deletion	KCNK16,frameshift_variant,p.Asp299GlufsTer23,ENST00000373229,NM_032115.3;KCNK16,frameshift_variant,p.Asp187GlufsTer23,ENST00000507712,;KCNK16,frameshift_variant,p.Asp252GlufsTer?,ENST00000373227,NM_001135107.1;KCNK16,3_prime_UTR_variant,,ENST00000425054,NM_001135105.1;KCNK17,upstream_gene_variant,,ENST00000453413,NM_001135111.1;KCNK17,upstream_gene_variant,,ENST00000373231,NM_031460.3;KCNK16,downstream_gene_variant,,ENST00000437525,NM_001135106.1;KCNK17,upstream_gene_variant,,ENST00000503878,;	uc003ooq.2	c.894_910delGGACTTCCCCATATCCA	908-924/1248	5	5			c.894_910delGGACTTCCCCATATCCA						6	DEL	c.(892-912)CAGGACTTCCCCATATCCAAGfs	26	26			ovary(2)|skin(1)	3	Broad	potassium channel, subfamily K, member 16			39282814		0.59	ENSG00000095981	7926	g.chr6:39282798_39282814delTGGATATGGGGAAGTCC		integral to membrane	potassium channel activity|voltage-gated ion channel activity																				0.06	1	1	0	1	0	0	0	0	0	--	--		0	-			KCNK17_uc003ooo.2_5'Flank|KCNK17_uc003oop.2_5'Flank|KCNK16_uc003oor.3_3'UTR|KCNK16_uc010jwy.2_Frame_Shift_Del_p.Q251fs	197	GBM-27-1838-TP	p.Q298fs	TGGATATGGGGAAGTCC	AGTCCTTTCTTGGATATGGGGAAGTCCTGGGGTGTGA	NM_032115	NP_115491	39282798	Q96T55	KCNKG_HUMAN	0			6	908_924	-	-	-			Frame_Shift_Del	298_304			Cytoplasmic (Potential).			
KCNK17	89822		GRCh37	6	39272395	39272395	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000373231.4:c.389G>A	p.Arg130His	p.R130H	ENST00000373231	NM_031460.3	130	cGc/cAc	0																																																																																																																																																																																																																																												
KCNK18	338567	broad.mit.edu	GRCh37	10	118969028	118969028	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs141958329		TCGA-06-5414-01	TCGA-06-5414-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334549.1:c.373G>A	p.Val125Ile	p.V125I	ENST00000334549	NM_181840.1	125	Gtc/Atc	0	A:0		1			A	V/I	uc010qsr.1	protein_coding	YES	CCDS7598.1			373/1155									upper_aerodigestive_tract(1)	1	c.(373-375)GTC>ATC			hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF91,Pfam_domain:PF07885,Gene3D:1.10.287.70,Superfamily_domains:SSF81324,Prints_domain:PR01333	potassium channel, subfamily K, member 18			A:0.0003	ENSP00000334650		3-Mar	0.000272	0.000397		0.000116		0.000425			rs141958329,COSM2055012	3-Mar	common_variant		ENST00000334549	Transcript	1			integral to membrane|plasma membrane		ENSG00000186795	g.chr10:118969028G>A	19439			MODERATE		1.435	low	getma.org/?cm=msa&ty=f&p=KCNKI_HUMAN&rb=87&re=157&var=V125I	getma.org/pdb.php?prot=KCNKI_HUMAN&from=87&to=157&var=V125I	getma.org/?cm=var&var=hg19,10,118969028,G,A&fts=all	V125I	--	--	1																																			0,1	1		benign(0.177)	p.V125I	NM_181840	NP_862823		tolerated(0.17)	0,1	KCNKI_HUMAN	KCNK18	HGNC	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)			3	373	+		Colorectal(252;0.19)	UPI0000046427	125					SNV	KCNK18,missense_variant,p.Val125Ile,ENST00000334549,NM_181840.1;	uc010qsr.1	c.373G>A	373/1155	2	2			c.373G>A						10	SNP	c.(373-375)GTC>ATC	48	48			upper_aerodigestive_tract(1)	1	Broad	potassium channel, subfamily K, member 18			118969028		0.507	ENSG00000186795	7928	g.chr10:118969028G>A		integral to membrane|plasma membrane								283.182524	KEEP	60	64	-1	50	57	60	64	-1	283.866481	50	57	0.568862	1	0	0	0	0	1	0	0	0	--	--		0	A				97	GBM-06-5414-TP	p.V125I	G	CATCTACCCCGTCACCAGGCT	NM_181840	NP_862823	118969028	Q7Z418	KCNKI_HUMAN	0		all cancers(201;0.0211)	3	373	+	A	A		Colorectal(252;0.19)	Missense_Mutation	125						
KCNK3	3777		GRCh37	2	26950539	26950539	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000302909.3:c.288C>T	p.Tyr96=	p.Y96=	ENST00000302909	NM_002246.2	96	taC/taT	0																																																																																																																																																																																																																																												
KCNK4	50801	broad.mit.edu	GRCh37	11	64064379	64064379	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2570-01	TCGA-06-2570-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000539216.1:c.219G>A	p.Ala73=	p.A73=	ENST00000539216		73	gcG/gcA	0			1			A	A	uc001nzj.1	protein_coding		CCDS8067.1			219/1182										0	c.(217-219)GCG>GCA			hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF30,Prints_domain:PR01691	TRAAK				ENSP00000378033		7-Mar	1.73E-05	9.86E-05				1.57E-05			rs777814993,COSM2153105	7-Mar	.		ENST00000394525	Transcript				integral to membrane	potassium channel activity|voltage-gated ion channel activity	ENSG00000182450	g.chr11:64064379G>A	6279			LOW								--	--	1																																		KCNK4_uc009ypl.1_Missense_Mutation_p.R7Q|KCNK4_uc001nzk.1_Missense_Mutation_p.R7Q|KCNK4_uc010rnk.1_5'UTR|KCNK4_uc001nzl.1_Missense_Mutation_p.R7Q|KCNK4_uc001nzm.3_RNA|KCNK4_uc001nzn.1_Silent_p.A73A|KCNK4_uc001nzo.2_Silent_p.A73A|KCNK4_uc001nzp.1_5'UTR	0,1				p.A73A	NM_033310	NP_201567			0,1	KCNK4_HUMAN	KCNK4	HGNC	Q9NYG8	KCNK4_HUMAN			F5GZ20_HUMAN		3	542	+			UPI0000042377	73					SNV	KCNK4,missense_variant,p.Arg7Gln,ENST00000538767,;KCNK4,synonymous_variant,p.=,ENST00000539216,;KCNK4,synonymous_variant,p.=,ENST00000422670,NM_033310.2;KCNK4,synonymous_variant,p.=,ENST00000394525,;TEX40,upstream_gene_variant,,ENST00000539943,;TEX40,upstream_gene_variant,,ENST00000328404,NM_001039496.1;Y_RNA,downstream_gene_variant,,ENST00000384297,;RP11-783K16.10,non_coding_transcript_exon_variant,,ENST00000539086,;KCNK4,non_coding_transcript_exon_variant,,ENST00000539651,;KCNK4,synonymous_variant,p.=,ENST00000541349,;KCNK4,non_coding_transcript_exon_variant,,ENST00000536690,;KCNK4,non_coding_transcript_exon_variant,,ENST00000453423,;KCNK4,non_coding_transcript_exon_variant,,ENST00000538846,;KCNK4,non_coding_transcript_exon_variant,,ENST00000545838,;	uc001nzj.1	c.219G>A	405/1673	1	1			c.219G>A						11	SNP	c.(217-219)GCG>GCA	62	62				0	Broad	TRAAK			64064379		0.617	ENSG00000182450	7931	g.chr11:64064379G>A		integral to membrane	potassium channel activity|voltage-gated ion channel activity							69.556018	KEEP	13	13	-1	22	27	13	13	-1	70.813935	22	27	0.357143	1	0	0	0	0	0	0	1	0	--	--		0	A			KCNK4_uc009ypl.1_Missense_Mutation_p.R7Q|KCNK4_uc001nzk.1_Missense_Mutation_p.R7Q|KCNK4_uc010rnk.1_5'UTR|KCNK4_uc001nzl.1_Missense_Mutation_p.R7Q|KCNK4_uc001nzm.3_RNA|KCNK4_uc001nzn.1_Silent_p.A73A|KCNK4_uc001nzo.2_Silent_p.A73A|KCNK4_uc001nzp.1_5'UTR	91	GBM-06-2570-TP	p.A73A	G	GAGGGGGTGCGGACCCAGAAA	NM_033310	NP_201567	64064379	Q9NYG8	KCNK4_HUMAN	0			3	542	+	A	A			Silent	73						
KCNK5	8645	broad.mit.edu	GRCh37	6	39162433	39162433	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-0644-01	TCGA-06-0644-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359534.3:c.402C>A	p.Gly134=	p.G134=	ENST00000359534	NM_003740.3	134	ggC/ggA	0			1			T	G	uc003oon.2	protein_coding	YES	CCDS4841.1			402/1500									central_nervous_system(1)|skin(1)	2	c.(400-402)GGC>GGA			Transmembrane_helices:TMhelix,hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF22,Gene3D:1.10.287.70,Pfam_domain:PF07885,Superfamily_domains:SSF81324,Prints_domain:PR01095	potassium channel, subfamily K, member 5				ENSP00000352527		5-Mar									COSM3411080	5-Mar	.		ENST00000359534	Transcript			excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	ENSG00000164626	g.chr6:39162433G>T	6280			LOW								--	--	1																																			1	1			p.G134G	NM_003740	NP_003731			1	KCNK5_HUMAN	KCNK5	HGNC	O95279	KCNK5_HUMAN					3	766	-			UPI000003AFB5	134			Cytoplasmic (Potential).		SNV	KCNK5,synonymous_variant,p.=,ENST00000359534,NM_003740.3;	uc003oon.2	c.402C>A	741/3756	2	2			c.402C>A						6	SNP	c.(400-402)GGC>GGA	21	21			central_nervous_system(1)|skin(1)	2	Broad	potassium channel, subfamily K, member 5			39162433		0.597	ENSG00000164626	7932	g.chr6:39162433G>T	excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity							-32.515235	KEEP	2	5	0.285714286	89	113	2	5	0.285714286	11.676183	89	113	0.032432	1	0	0	0	0	0	0	1	0	--	--		0	T				58	GBM-06-0644-TP	p.G134G	G	CGAAGAACTTGCCCAGGGCAC	NM_003740	NP_003731	39162433	O95279	KCNK5_HUMAN	0			3	766	-	T	T			Silent	134			Cytoplasmic (Potential).			
KCNK5	0	broad.mit.edu	GRCh37	6	39159464	39159464	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-41-5651-01	TCGA-41-5651-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359534.3:c.702G>T	p.Gly234=	p.G234=	ENST00000359534	NM_003740.3	234	ggG/ggT	0			1			A	G	uc003oon.2	protein_coding	YES	CCDS4841.1			702/1500									central_nervous_system(1)|skin(1)	2	c.(700-702)GGG>GGT			Transmembrane_helices:TMhelix,hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF22,Gene3D:1.10.287.70,Pfam_domain:PF07885,Superfamily_domains:SSF81324,Prints_domain:PR01095	potassium channel, subfamily K, member 5				ENSP00000352527		5-May									COSM3411079	5-May	.		ENST00000359534	Transcript			excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	ENSG00000164626	g.chr6:39159464C>A	6280			LOW								--	--	1																																			1	1			p.G234G	NM_003740	NP_003731			1	KCNK5_HUMAN	KCNK5	HGNC	O95279	KCNK5_HUMAN					5	1066	-			UPI000003AFB5	234			Helical; (Potential).		SNV	KCNK5,synonymous_variant,p.=,ENST00000359534,NM_003740.3;	uc003oon.2	c.702G>T	1041/3756	2	2			c.702G>T						6	SNP	c.(700-702)GGG>GGT	28	28			central_nervous_system(1)|skin(1)	2	Broad	potassium channel, subfamily K, member 5			39159464		0.577	ENSG00000164626	7932	g.chr6:39159464C>A	excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity							-0.312454	KEEP	4	6	0.6	62	55	4	6	0.6	20.326843	62	55	0.078947	1	0	0	0	0	0	0	1	0	--	--		0	A				258	GBM-41-5651-TP	p.G234G	C	GCCAGGCCAGCCCCAAGTAGA	NM_003740	NP_003731	39159464	O95279	KCNK5_HUMAN	0			5	1066	-	A	A			Silent	234			Helical; (Potential).			
KCNK9	0	broad.mit.edu	GRCh37	8	140630517	140630517	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01	TCGA-28-5216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303015.1:c.1109G>A	p.Arg370His	p.R370H	ENST00000303015	NM_016601.2	370	cGc/cAc	0			1			T	R/H	uc003yvf.1	protein_coding		CCDS6377.1			1109/1125									ovary(2)|lung(1)	3	c.(1108-1110)CGC>CAC			hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF75	potassium channel, subfamily K, member 9				ENSP00000302166		3-Feb	1.65E-05			0.000116				6.06E-05	rs781672892,COSM1455111,COSM3412781	3-Feb	.		ENST00000303015	Transcript	1			integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	ENSG00000169427	g.chr8:140630517C>T	6283			MODERATE		2.295	medium	getma.org/?cm=msa&ty=f&p=KCNK9_HUMAN&rb=249&re=374&var=R370H	NA	getma.org/?cm=var&var=hg19,8,140630517,C,T&fts=all	R370H	--	--	1																																		KCNK9_uc003yvg.1_Missense_Mutation_p.R370H|KCNK9_uc003yve.1_RNA	0,1,1			possibly_damaging(0.891)	p.R370H	NM_016601	NP_057685		deleterious(0)	0,1,1	KCNK9_HUMAN	KCNK9	HGNC	Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)				2	1173	-	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	UPI000000D8AC	370			Cytoplasmic (Potential).		SNV	KCNK9,missense_variant,p.Arg370His,ENST00000520439,NM_001282534.1;KCNK9,missense_variant,p.Arg370His,ENST00000303015,NM_016601.2;KCNK9,upstream_gene_variant,,ENST00000523477,;KCNK9,upstream_gene_variant,,ENST00000519923,;KCNK9,missense_variant,p.Arg370His,ENST00000522317,;	uc003yvf.1	c.1109G>A	1173/1303	2	2			c.1109G>A						8	SNP	c.(1108-1110)CGC>CAC	44	44			ovary(2)|lung(1)	3	Broad	potassium channel, subfamily K, member 9			140630517		0.453	ENSG00000169427	7935	g.chr8:140630517C>T		integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity							265.999041	KEEP	59	54	-1	51	74	59	54	-1	266.13035	51	74	0.472637	1	0	0	0	0	1	0	0	0	--	--		0	T			KCNK9_uc003yvg.1_Missense_Mutation_p.R370H|KCNK9_uc003yve.1_RNA	223	GBM-28-5216-TP	p.R370H	C	GGACTTCCGGCGTTTCATCAG	NM_016601	NP_057685	140630517	Q9NPC2	KCNK9_HUMAN	0	BRCA - Breast invasive adenocarcinoma(115;0.0855)		2	1173	-	T	T	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	Missense_Mutation	370			Cytoplasmic (Potential).			
KCNMB4	27345	broad.mit.edu	GRCh37	12	70793987	70793987	+	splice_acceptor_variant	Splice_Site	DEL	A	A	-			TCGA-02-2486-01	TCGA-02-2486-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258111.4:c.337-2del		p.X113_splice	ENST00000258111	NM_014505.5	113		0			1			-		uc001svx.2	protein_coding	YES	CCDS8997.1			337/633										0	c.e2-2				calcium-activated potassium channel beta 4				ENSP00000258111													.		ENST00000258111	Transcript			detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding	ENSG00000135643	g.chr12:70793987delA	6289			HIGH	2-Jan							--	--	1																																				1			p.C113_splice	NM_014505	NP_055320				KCMB4_HUMAN	KCNMB4	HGNC	Q86W47	KCMB4_HUMAN	Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)				2	790	+	Renal(347;0.236)		UPI0000073E0E						deletion	KCNMB4,splice_acceptor_variant,,ENST00000258111,NM_014505.5;KCNMB4,upstream_gene_variant,,ENST00000531884,;	uc001svx.2	c.337_splice	-/4731	5	5			c.337_splice						12	DEL	c.e2-2	34	34				0	Broad	calcium-activated potassium channel beta 4			70793987		0.333	ENSG00000135643	7940	g.chr12:70793987delA	detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding																				0.34	1	1	0	1	0	0	0	0	1	--	--		0	-				8	GBM-02-2486-TP	p.C113_splice	A	CTATTTTGTTAGTGCTCCTAT	NM_014505	NP_055320	70793987	Q86W47	KCMB4_HUMAN	0	Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		2	790	+	-	-	Renal(347;0.236)		Splice_Site							
KCNN1	0	broad.mit.edu	GRCh37	19	18084899	18084899	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2518-01	TCGA-27-2518-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222249.9:c.202G>A	p.Asp68Asn	p.D68N	ENST00000222249	NM_002248.4	68	Gat/Aat	0		A:0	1	A:0		A	D/N	uc002nht.2	protein_coding	YES	CCDS67611.1			202/1632										0	c.(202-204)GAT>AAT			hmmpanther:PTHR10153,hmmpanther:PTHR10153:SF8,Low_complexity_(Seg):seg	potassium intermediate/small conductance		A:0.001		ENSP00000476519	A:0	11-Mar	4.97E-05			0.000482		1.57E-05			rs187534285,COSM3403942,COSM3403941	11-Mar	common_variant		ENST00000222249	Transcript		A:0.0002	synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity	ENSG00000105642	g.chr19:18084899G>A	6290			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=KCNN1_HUMAN&rb=1&re=91&var=D68N	NA	getma.org/?cm=var&var=hg19,19,18084899,G,A&fts=all	D68N	--	--	1																																		KCNN1_uc010xqa.1_Missense_Mutation_p.D68N	0,1,1	1		benign(0.049)	p.D68N	NM_002248	NP_002239	A:0	tolerated(0.43)	0,1,1	KCNN1_HUMAN	KCNN1	HGNC	Q92952	KCNN1_HUMAN					3	512	+			UPI00001649F9	68					SNV	KCNN1,missense_variant,p.Asp68Asn,ENST00000222249,NM_002248.4;KCNN1,missense_variant,p.Asp151Asn,ENST00000609922,;RNA5SP468,downstream_gene_variant,,ENST00000516782,;	uc002nht.2	c.202G>A	521/3625	2	2			c.202G>A						19	SNP	c.(202-204)GAT>AAT	18	18				0	Broad	potassium intermediate/small conductance			18084899		0.701	ENSG00000105642	7941	g.chr19:18084899G>A	synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity							32.083175	KEEP	6	9	-1	16	26	6	9	-1	33.813501	16	26	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	A			KCNN1_uc010xqa.1_Missense_Mutation_p.D68N	198	GBM-27-2518-TP	p.D68N	G	GGACCAGGACGATGACGAGGA	NM_002248	NP_002239	18084899	Q92952	KCNN1_HUMAN	0			3	512	+	A	A			Missense_Mutation	68						
KCNN2	3781	broad.mit.edu	GRCh37	5	113740527	113740527	+	synonymous_variant	Silent	SNP	C	C	T	rs147034356	byFrequency	TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000512097.3:c.975C>T	p.Ala325=	p.A325=	ENST00000512097		325	gcC/gcT	0	T:0.0016	T:0.0008	1	T:0		T	A	uc003kqo.2	protein_coding		CCDS4114.1			975/1740									ovary(2)	2	c.(973-975)GCC>GCT			Transmembrane_helices:TMhelix,hmmpanther:PTHR10153,hmmpanther:PTHR10153:SF21,Gene3D:1.10.287.70,Pfam_domain:PF07885,Superfamily_domains:SSF81324	small conductance calcium-activated potassium		T:0	T:0	ENSP00000264773	T:0	8-Mar	0.00014	0.00145	8.64E-05					6.24E-05	rs147034356,COSM3409668,COSM3409669	8-Mar	common_variant		ENST00000264773	Transcript		T:0.0002		integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	ENSG00000080709	g.chr5:113740527C>T	6291			LOW								--	--	1																																			0,1,1				p.A325A	NM_021614	NP_067627	T:0		0,1,1	KCNN2_HUMAN	KCNN2	HGNC	Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)			3	1432	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	UPI000013D56A	325			Helical; Name=Segment S5; (Potential).		SNV	KCNN2,synonymous_variant,p.=,ENST00000512097,;KCNN2,synonymous_variant,p.=,ENST00000264773,NM_001278204.1,NM_021614.3;KCNN2,intron_variant,,ENST00000507750,;	uc003kqo.2	c.975C>T	1432/2515	1	1			c.975C>T						5	SNP	c.(973-975)GCC>GCT	1	1			ovary(2)	2	Broad	small conductance calcium-activated potassium			113740527		0.328	ENSG00000080709	7942	g.chr5:113740527C>T		integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity							-44.009029	KEEP	2	4	-1	116	134	2	4	-1	10.09053	116	134	0.023364	1	0	0	0	0	0	0	1	0	--	--		0	T				102	GBM-06-5858-TP	p.A325A	C	GGATAATTGCCGCATGGACTG	NM_021614	NP_067627	113740527	Q9H2S1	KCNN2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	3	1432	+	T	T		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	Silent	325			Helical; Name=Segment S5; (Potential).			
KCNN2	0	broad.mit.edu	GRCh37	5	113740368	113740368	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-1597-01	TCGA-12-1597-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264773.3:c.816C>T	p.Val272=	p.V272=	ENST00000264773	NM_001278204.1	272	gtC/gtT	0			1			T	V	uc003kqo.2	protein_coding		CCDS4114.1			816/1740									ovary(2)	2	c.(814-816)GTC>GTT			Transmembrane_helices:TMhelix,hmmpanther:PTHR10153,hmmpanther:PTHR10153:SF21,Gene3D:1.10.287.70,Superfamily_domains:SSF81324	small conductance calcium-activated potassium				ENSP00000264773		8-Mar									COSM3409666,COSM3409667	8-Mar	.		ENST00000264773	Transcript				integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	ENSG00000080709	g.chr5:113740368C>T	6291			LOW								--	--	1																																			1,1				p.V272V	NM_021614	NP_067627			1,1	KCNN2_HUMAN	KCNN2	HGNC	Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)			3	1273	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	UPI000013D56A	272			Helical; Name=Segment S4; (Potential).		SNV	KCNN2,synonymous_variant,p.=,ENST00000512097,;KCNN2,synonymous_variant,p.=,ENST00000264773,NM_001278204.1,NM_021614.3;KCNN2,intron_variant,,ENST00000507750,;	uc003kqo.2	c.816C>T	1273/2515	1	1			c.816C>T						5	SNP	c.(814-816)GTC>GTT	1	1			ovary(2)	2	Broad	small conductance calcium-activated potassium			113740368		0.393	ENSG00000080709	7942	g.chr5:113740368C>T		integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity							71.197043	KEEP	24	15	-1	86	78	24	15	-1	89.836572	86	78	0.180412	1	0	0	0	0	0	0	1	0	--	--		0	T				124	GBM-12-1597-TP	p.V272V	C	TTGCCAGAGTCATGCTTTTAC	NM_021614	NP_067627	113740368	Q9H2S1	KCNN2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	3	1273	+	T	T		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	Silent	272			Helical; Name=Segment S4; (Potential).			
KCNN3	3782	broad.mit.edu	GRCh37	1	154680586	154680588	+	inframe_deletion	In_Frame_Del	DEL	GCT	GCT	-			TCGA-06-2558-01	TCGA-06-2558-01	GCT	GCT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271915.4:c.2060_2062del	p.Gln687del	p.Q687del	ENST00000271915	NM_001204087.1	687	cAGCtc/ctc	0			1			-	QL/L	uc001ffp.2	protein_coding	YES	CCDS30880.1			2060-2062/2196									lung(1)	1	c.(2059-2064)CAGCTC>CTC			hmmpanther:PTHR10153:SF35,hmmpanther:PTHR10153	small conductance calcium-activated potassium				ENSP00000271915		8-Aug	0.000898	0.000289	0.000779	0.000696	0.000151	0.000526	0.00442	0.00312	rs149440400,COSM896648,COSM1583456	8-Aug	common_variant		ENST00000271915	Transcript				integral to membrane	calmodulin binding	ENSG00000143603	g.chr1:154680586_154680588delGCT	6292			MODERATE								--	--	1																																		KCNN3_uc001ffo.2_In_Frame_Del_p.Q382del	0,1,1	1			p.Q687del	NM_002249	NP_002240			0,1,1		KCNN3	HGNC	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		Q6JXY2_HUMAN		8	2374_2376	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		UPI000013D915	692			Poly-Gln.		deletion	KCNN3,inframe_deletion,p.Gln687del,ENST00000271915,NM_001204087.1,NM_002249.5;KCNN3,inframe_deletion,p.Gln382del,ENST00000361147,NM_170782.2;KCNN3,inframe_deletion,p.Gln374del,ENST00000358505,;KCNN3,non_coding_transcript_exon_variant,,ENST00000515643,;	uc001ffp.2	c.2060_2062delAGC	2376-2378/13033	5	5			c.2060_2062delAGC						1	DEL	c.(2059-2064)CAGCTC>CTC	2	2			lung(1)	1	Broad	small conductance calcium-activated potassium			154680588		0.64	ENSG00000143603	7943	g.chr1:154680586_154680588delGCT		integral to membrane	calmodulin binding																				0.03	1	1	0	1	0	0	0	0	0	--	--		0	-			KCNN3_uc001ffo.2_In_Frame_Del_p.Q382del	82	GBM-06-2558-TP	p.Q687del	GCT	GCAGACAGGAGCTGCTGCTGCTG	NM_002249	NP_002240	154680586	Q9UGI6	KCNN3_HUMAN	0	BRCA - Breast invasive adenocarcinoma(34;0.00819)		8	2374_2376	-	-	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		In_Frame_Del	692			Poly-Gln.			
KCNQ4	0	broad.mit.edu	GRCh37	1	41285881	41285881	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000347132.5:c.990C>T	p.His330=	p.H330=	ENST00000347132	NM_004700.3	330	caC/caT	0			1			T	H	uc001cgh.1	protein_coding	YES	CCDS456.1			990/2088									central_nervous_system(1)	1	c.(988-990)CAC>CAT			hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF4,Gene3D:1.10.287.70	potassium voltage-gated channel KQT-like protein				ENSP00000262916		14-Jul									COSM3400779	14-Jul	.		ENST00000347132	Transcript	1		sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		ENSG00000117013	g.chr1:41285881C>T	6298			LOW								--	--	1																																		KCNQ4_uc001cgi.1_Silent_p.H330H	1	1			p.H330H	NM_004700	NP_004691			1	KCNQ4_HUMAN	KCNQ4	HGNC	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)				7	1072	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	UPI000013D35B	330			Cytoplasmic.		SNV	KCNQ4,synonymous_variant,p.=,ENST00000347132,NM_004700.3,NM_172163.2;KCNQ4,synonymous_variant,p.=,ENST00000443478,;KCNQ4,synonymous_variant,p.=,ENST00000509682,;KCNQ4,non_coding_transcript_exon_variant,,ENST00000506017,;	uc001cgh.1	c.990C>T	1072/4099	2	2			c.990C>T						1	SNP	c.(988-990)CAC>CAT	29	29			central_nervous_system(1)	1	Broad	potassium voltage-gated channel KQT-like protein			41285881		0.617	ENSG00000117013	7948	g.chr1:41285881C>T	sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex								5.073647	KEEP	0	5	-1	13	9	0	5	-1	7.846125	13	9	0.16	1	0	0	0	0	0	0	1	0	--	--		0	T			KCNQ4_uc001cgi.1_Silent_p.H330H	129	GBM-12-5295-TP	p.H330H	C	AGGAGCAGCACCGGCAGAAGC	NM_004700	NP_004691	41285881	P56696	KCNQ4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		7	1072	+	T	T	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	Silent	330			Cytoplasmic.			
KCNQ4	0	broad.mit.edu	GRCh37	1	41289931	41289931	+	splice_donor_variant	Splice_Site	SNP	G	G	T			TCGA-14-3476-01	TCGA-14-3476-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000347132.5:c.1292+1G>T		p.X431_splice	ENST00000347132	NM_004700.3			0			1			T		uc001cgh.1	protein_coding	YES	CCDS456.1			1292/2088									central_nervous_system(1)	1	c.e9+1				potassium voltage-gated channel KQT-like protein				ENSP00000262916											COSM3747846		.		ENST00000347132	Transcript	1		sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		ENSG00000117013	g.chr1:41289931G>T	6298			HIGH	13-Sep							--	--	1																																		KCNQ4_uc001cgi.1_Intron	1	1			p.S431_splice	NM_004700	NP_004691			1	KCNQ4_HUMAN	KCNQ4	HGNC	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)				9	1374	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	UPI000013D35B						SNV	KCNQ4,splice_donor_variant,,ENST00000347132,NM_004700.3,NM_172163.2;KCNQ4,intron_variant,,ENST00000443478,;KCNQ4,intron_variant,,ENST00000509682,;KCNQ4,splice_donor_variant,,ENST00000506017,;	uc001cgh.1	c.1292_splice	-/4099	5	1			c.1292_splice						1	SNP	c.e9+1	4	4			central_nervous_system(1)	1	Broad	potassium voltage-gated channel KQT-like protein			41289931		0.667	ENSG00000117013	7948	g.chr1:41289931G>T	sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex								30.744812	KEEP	6	6	0.5	9	12	6	6	0.5	30.939297	9	12	0.407407	1	0	0	0	0	0	0	0	1	--	--		0	T			KCNQ4_uc001cgi.1_Intron	151	GBM-14-3476-TP	p.S431_splice	G	CTGGGGAAAGGTAGGGGCCCC	NM_004700	NP_004691	41289931	P56696	KCNQ4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		9	1374	+	T	T	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	Splice_Site							
KCNQ4	0	broad.mit.edu	GRCh37	1	41284177	41284177	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G			TCGA-26-5132-01	TCGA-26-5132-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000347132.5:c.533A>G	p.Asp178Gly	p.D178G	ENST00000347132	NM_004700.3	178	gAc/gGc	0			1			G	D/G	uc001cgh.1	protein_coding	YES	CCDS456.1			533/2088									central_nervous_system(1)	1	c.(532-534)GAC>GGC			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF4,Pfam_domain:PF00520,Gene3D:1.10.287.70,Superfamily_domains:SSF81324,Prints_domain:PR01459	potassium voltage-gated channel KQT-like protein				ENSP00000262916		14-Apr									COSM2156910	14-Apr	.		ENST00000347132	Transcript	1		sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		ENSG00000117013	g.chr1:41284177A>G	6298			MODERATE		3.435	medium	getma.org/?cm=msa&ty=f&p=KCNQ4_HUMAN&rb=134&re=318&var=D178G	getma.org/pdb.php?prot=KCNQ4_HUMAN&from=134&to=318&var=D178G	getma.org/?cm=var&var=hg19,1,41284177,A,G&fts=all	D178G	--	--	1																																		KCNQ4_uc001cgi.1_Missense_Mutation_p.D178G	1	1		benign(0.198)	p.D178G	NM_004700	NP_004691		tolerated(0.07)	1	KCNQ4_HUMAN	KCNQ4	HGNC	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)				4	615	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	UPI000013D35B	178			Helical; Name=Segment S3; (Potential).		SNV	KCNQ4,missense_variant,p.Asp178Gly,ENST00000347132,NM_004700.3,NM_172163.2;KCNQ4,missense_variant,p.Asp74Gly,ENST00000443478,;KCNQ4,missense_variant,p.Asp178Gly,ENST00000509682,;KCNQ4,upstream_gene_variant,,ENST00000506017,;	uc001cgh.1	c.533A>G	615/4099	3	3			c.533A>G						1	SNP	c.(532-534)GAC>GGC	2	2			central_nervous_system(1)	1	Broad	potassium voltage-gated channel KQT-like protein			41284177		0.701	ENSG00000117013	7948	g.chr1:41284177A>G	sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex								71.119516	KEEP	10	16	-1	23	21	10	16	-1	71.831816	23	21	0.383333	1	0	0	0	0	1	0	0	0	--	--		0	G			KCNQ4_uc001cgi.1_Missense_Mutation_p.D178G	181	GBM-26-5132-TP	p.D178G	A	GCCCCTGCAGACTTCATCGTG	NM_004700	NP_004691	41284177	P56696	KCNQ4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		4	615	+	G	G	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	Missense_Mutation	178			Helical; Name=Segment S3; (Potential).			
KCNQ5	56479	broad.mit.edu	GRCh37	6	73787150	73787150	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342056.2:c.722G>A	p.Arg241His	p.R241H	ENST00000342056	NM_001160132.1	241	cGc/cAc	0			1			A	R/H	uc003pgk.2	protein_coding		CCDS4976.1			722/2799								p.R241H(1)	ovary(4)|large_intestine(2)|skin(1)	7	c.(721-723)CGC>CAC			hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF128,Pfam_domain:PF00520,Gene3D:1.10.287.70,Superfamily_domains:SSF81324,Prints_domain:PR00169	potassium voltage-gated channel, KQT-like				ENSP00000359425		14-Apr	8.24E-06							6.07E-05	rs781763407,COSM71269,COSM3411263,COSM3411262	14-Apr	.		ENST00000370398	Transcript			protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	ENSG00000185760	g.chr6:73787150G>A	6299			MODERATE		3.635	high	getma.org/?cm=msa&ty=f&p=KCNQ5_HUMAN&rb=162&re=346&var=R241H	getma.org/pdb.php?prot=KCNQ5_HUMAN&from=162&to=346&var=R241H	getma.org/?cm=var&var=hg19,6,73787150,G,A&fts=all	R241H	--	--	1																																		KCNQ5_uc003pgj.3_Missense_Mutation_p.R241H|KCNQ5_uc011dyh.1_Missense_Mutation_p.R241H|KCNQ5_uc011dyi.1_Missense_Mutation_p.R241H|KCNQ5_uc010kat.2_Missense_Mutation_p.R241H|KCNQ5_uc011dyj.1_Missense_Mutation_p.R241H|KCNQ5_uc011dyk.1_5'UTR	0,1,1,1			probably_damaging(0.998)	p.R241H	NM_019842	NP_062816		deleterious(0.01)	0,1,1,1	KCNQ5_HUMAN	KCNQ5	HGNC	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)			4	1069	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	UPI0000167EE4	241			Helical; Voltage-sensor; Name=Segment S4; (Potential).		SNV	KCNQ5,missense_variant,p.Arg241His,ENST00000342056,NM_001160132.1,NM_001160133.1;KCNQ5,missense_variant,p.Arg241His,ENST00000355194,;KCNQ5,missense_variant,p.Arg241His,ENST00000370398,NM_019842.3;KCNQ5,missense_variant,p.Arg241His,ENST00000402622,;KCNQ5,missense_variant,p.Arg241His,ENST00000355635,;KCNQ5,missense_variant,p.Arg241His,ENST00000403813,NM_001160130.1;KCNQ5,missense_variant,p.Arg241His,ENST00000414165,NM_001160134.1;KCNQ5,missense_variant,p.Arg241His,ENST00000370392,;	uc003pgk.2	c.722G>A	831/6345	1	1			c.722G>A						6	SNP	c.(721-723)CGC>CAC	62	62		p.R241H(1)	ovary(4)|large_intestine(2)|skin(1)	7	Broad	potassium voltage-gated channel, KQT-like			73787150		0.443	ENSG00000185760	7949	g.chr6:73787150G>A	protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	GBM(142;1375 1859 14391 23261 44706)			GBM(142;1375 1859 14391 23261 44706)			154.48681	KEEP	34	26	-1	48	46	34	26	-1	156.068294	48	46	0.387324	1	0	0	0	0	1	0	0	0	--	--		0	A			KCNQ5_uc003pgj.3_Missense_Mutation_p.R241H|KCNQ5_uc011dyh.1_Missense_Mutation_p.R241H|KCNQ5_uc011dyi.1_Missense_Mutation_p.R241H|KCNQ5_uc010kat.2_Missense_Mutation_p.R241H|KCNQ5_uc011dyj.1_Missense_Mutation_p.R241H|KCNQ5_uc011dyk.1_5'UTR	8	GBM-02-2486-TP	p.R241H	G	CAGATCCTCCGCATGGTGCGC	NM_019842	NP_062816	73787150	Q9NR82	KCNQ5_HUMAN	0		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	4	1069	+	A	A		all_epithelial(107;0.116)|Lung NSC(302;0.219)	Missense_Mutation	241			Helical; Voltage-sensor; Name=Segment S4; (Potential).			
KCNQ5	56479	broad.mit.edu	GRCh37	6	73904675	73904675	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0211-01	TCGA-06-0211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342056.2:c.2394C>T	p.Asp798=	p.D798=	ENST00000342056	NM_001160132.1	798	gaC/gaT	0			1			T	D	uc003pgk.2	protein_coding		CCDS4976.1			2337/2799									ovary(4)|large_intestine(2)|skin(1)	7	c.(2335-2337)GAC>GAT				potassium voltage-gated channel, KQT-like				ENSP00000359425		14/14	0.000173					7.49E-05		0.000969	rs779824484,COSM2150734,COSM3411266	14/14	common_variant		ENST00000370398	Transcript			protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	ENSG00000185760	g.chr6:73904675C>T	6299			LOW								--	--	1																																		KCNQ5_uc011dyh.1_Silent_p.D798D|KCNQ5_uc011dyi.1_Silent_p.D789D|KCNQ5_uc010kat.2_Silent_p.D770D|KCNQ5_uc011dyj.1_Silent_p.D669D|KCNQ5_uc011dyk.1_Silent_p.D529D	0,1,1				p.D779D	NM_019842	NP_062816			0,1,1	KCNQ5_HUMAN	KCNQ5	HGNC	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)			14	2684	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	UPI0000167EE4	779					SNV	KCNQ5,synonymous_variant,p.=,ENST00000342056,NM_001160132.1,NM_001160133.1;KCNQ5,synonymous_variant,p.=,ENST00000355194,;KCNQ5,synonymous_variant,p.=,ENST00000370398,NM_019842.3;KCNQ5,synonymous_variant,p.=,ENST00000402622,;KCNQ5,synonymous_variant,p.=,ENST00000355635,;KCNQ5,synonymous_variant,p.=,ENST00000403813,NM_001160130.1;KCNQ5,synonymous_variant,p.=,ENST00000414165,NM_001160134.1;	uc003pgk.2	c.2337C>T	2446/6345	2	2			c.2337C>T						6	SNP	c.(2335-2337)GAC>GAT	17	17			ovary(4)|large_intestine(2)|skin(1)	7	Broad	potassium voltage-gated channel, KQT-like			73904675		0.512	ENSG00000185760	7949	g.chr6:73904675C>T	protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	GBM(142;1375 1859 14391 23261 44706)			GBM(142;1375 1859 14391 23261 44706)			108.6623	KEEP	21	21	-1	26	28	21	21	-1	109.147493	26	28	0.420455	1	0	0	0	0	0	0	1	0	--	--		0	T			KCNQ5_uc011dyh.1_Silent_p.D798D|KCNQ5_uc011dyi.1_Silent_p.D789D|KCNQ5_uc010kat.2_Silent_p.D770D|KCNQ5_uc011dyj.1_Silent_p.D669D|KCNQ5_uc011dyk.1_Silent_p.D529D	48	GBM-06-0211-TP	p.D779D	C	GCATTTCTGACGTCACCACCT	NM_019842	NP_062816	73904675	Q9NR82	KCNQ5_HUMAN	0		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	14	2684	+	T	T		all_epithelial(107;0.116)|Lung NSC(302;0.219)	Silent	779						
KCNQ5	56479	broad.mit.edu	GRCh37	6	73843328	73843328	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342056.2:c.1489C>T	p.Arg497Cys	p.R497C	ENST00000342056	NM_001160132.1	497	Cgc/Tgc	0			1			T	R/C	uc003pgk.2	protein_coding		CCDS4976.1			1432/2799									ovary(4)|large_intestine(2)|skin(1)	7	c.(1432-1434)CGC>TGC			Pfam_domain:PF03520	potassium voltage-gated channel, KQT-like				ENSP00000359425		14-Oct									COSM2153353,COSM3411264	14-Oct	.		ENST00000370398	Transcript			protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	ENSG00000185760	g.chr6:73843328C>T	6299			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=KCNQ5_HUMAN&rb=445&re=647&var=R478C	NA	getma.org/?cm=var&var=hg19,6,73843328,C,T&fts=all	R478C	--	--	1																																		KCNQ5_uc011dyh.1_Missense_Mutation_p.R497C|KCNQ5_uc011dyi.1_Missense_Mutation_p.R488C|KCNQ5_uc010kat.2_Missense_Mutation_p.R469C|KCNQ5_uc011dyj.1_Intron|KCNQ5_uc011dyk.1_Missense_Mutation_p.R228C	1,1			probably_damaging(0.976)	p.R478C	NM_019842	NP_062816		deleterious(0)	1,1	KCNQ5_HUMAN	KCNQ5	HGNC	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)			10	1779	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	UPI0000167EE4	478					SNV	KCNQ5,missense_variant,p.Arg497Cys,ENST00000342056,NM_001160132.1,NM_001160133.1;KCNQ5,missense_variant,p.Arg478Cys,ENST00000355194,;KCNQ5,missense_variant,p.Arg478Cys,ENST00000370398,NM_019842.3;KCNQ5,missense_variant,p.Arg488Cys,ENST00000402622,;KCNQ5,missense_variant,p.Arg479Cys,ENST00000355635,;KCNQ5,missense_variant,p.Arg469Cys,ENST00000403813,NM_001160130.1;KCNQ5,missense_variant,p.Arg70Cys,ENST00000427928,;KCNQ5,intron_variant,,ENST00000414165,NM_001160134.1;KCNQ5-AS1,downstream_gene_variant,,ENST00000429832,;	uc003pgk.2	c.1432C>T	1541/6345	2	2			c.1432C>T						6	SNP	c.(1432-1434)CGC>TGC	46	46			ovary(4)|large_intestine(2)|skin(1)	7	Broad	potassium voltage-gated channel, KQT-like			73843328		0.512	ENSG00000185760	7949	g.chr6:73843328C>T	protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	GBM(142;1375 1859 14391 23261 44706)			GBM(142;1375 1859 14391 23261 44706)			117.324858	KEEP	20	23	-1	30	46	20	23	-1	118.407371	30	46	0.392523	1	0	0	0	0	1	0	0	0	--	--		0	T			KCNQ5_uc011dyh.1_Missense_Mutation_p.R497C|KCNQ5_uc011dyi.1_Missense_Mutation_p.R488C|KCNQ5_uc010kat.2_Missense_Mutation_p.R469C|KCNQ5_uc011dyj.1_Intron|KCNQ5_uc011dyk.1_Missense_Mutation_p.R228C	100	GBM-06-5418-TP	p.R478C	C	GCCCTCGCTGCGCCTCAAAAG	NM_019842	NP_062816	73843328	Q9NR82	KCNQ5_HUMAN	0		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	10	1779	+	T	T		all_epithelial(107;0.116)|Lung NSC(302;0.219)	Missense_Mutation	478						
KCNQ5	0	broad.mit.edu	GRCh37	6	73904449	73904449	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01	TCGA-15-0742-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370398.1:c.2111C>T	p.Ala704Val	p.A704V	ENST00000370398	NM_019842.3	704	gCg/gTg	0			1			T	A/V	uc003pgk.2	protein_coding		CCDS4976.1			2111/2799									ovary(4)|large_intestine(2)|skin(1)	7	c.(2110-2112)GCG>GTG				potassium voltage-gated channel, KQT-like				ENSP00000359425		14/14	2.47E-05					4.50E-05			rs776285517,COSM1445813,COSM3411265	14/14	.		ENST00000370398	Transcript			protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	ENSG00000185760	g.chr6:73904449C>T	6299			MODERATE		1.78	low	getma.org/?cm=msa&ty=f&p=KCNQ5_HUMAN&rb=648&re=847&var=A704V	NA	getma.org/?cm=var&var=hg19,6,73904449,C,T&fts=all	A704V	--	--	1																																		KCNQ5_uc011dyh.1_Missense_Mutation_p.A723V|KCNQ5_uc011dyi.1_Missense_Mutation_p.A714V|KCNQ5_uc010kat.2_Missense_Mutation_p.A695V|KCNQ5_uc011dyj.1_Missense_Mutation_p.A594V|KCNQ5_uc011dyk.1_Missense_Mutation_p.A454V	0,1,1			possibly_damaging(0.84)	p.A704V	NM_019842	NP_062816		deleterious(0.02)	0,1,1	KCNQ5_HUMAN	KCNQ5	HGNC	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)			14	2458	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	UPI0000167EE4	704					SNV	KCNQ5,missense_variant,p.Ala723Val,ENST00000342056,NM_001160132.1,NM_001160133.1;KCNQ5,missense_variant,p.Ala704Val,ENST00000355194,;KCNQ5,missense_variant,p.Ala704Val,ENST00000370398,NM_019842.3;KCNQ5,missense_variant,p.Ala714Val,ENST00000402622,;KCNQ5,missense_variant,p.Ala705Val,ENST00000355635,;KCNQ5,missense_variant,p.Ala695Val,ENST00000403813,NM_001160130.1;KCNQ5,missense_variant,p.Ala594Val,ENST00000414165,NM_001160134.1;	uc003pgk.2	c.2111C>T	2220/6345	2	2			c.2111C>T						6	SNP	c.(2110-2112)GCG>GTG	34	34			ovary(4)|large_intestine(2)|skin(1)	7	Broad	potassium voltage-gated channel, KQT-like			73904449		0.488	ENSG00000185760	7949	g.chr6:73904449C>T	protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	GBM(142;1375 1859 14391 23261 44706)			GBM(142;1375 1859 14391 23261 44706)			227.093653	KEEP	40	35	-1	11	12	40	35	-1	232.404827	11	12	0.758621	1	0	0	0	0	1	0	0	0	--	--		0	T			KCNQ5_uc011dyh.1_Missense_Mutation_p.A723V|KCNQ5_uc011dyi.1_Missense_Mutation_p.A714V|KCNQ5_uc010kat.2_Missense_Mutation_p.A695V|KCNQ5_uc011dyj.1_Missense_Mutation_p.A594V|KCNQ5_uc011dyk.1_Missense_Mutation_p.A454V	153	GBM-15-0742-TP	p.A704V	C	ACTTTCTACGCGCTTAGCCCT	NM_019842	NP_062816	73904449	Q9NR82	KCNQ5_HUMAN	0		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	14	2458	+	T	T		all_epithelial(107;0.116)|Lung NSC(302;0.219)	Missense_Mutation	704						
KCNRG	283518	broad.mit.edu	GRCh37	13	50589662	50589662	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-06-0686-01	TCGA-06-0686-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312942.1:c.33G>C	p.Val11=	p.V11=	ENST00000312942	NM_173605.1	11	gtG/gtC	0			1			C	V	uc001vdu.2	protein_coding	YES	CCDS9424.1			33/819										0	c.(31-33)GTG>GTC			hmmpanther:PTHR14499:SF5,hmmpanther:PTHR14499,Pfam_domain:PF02214,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695	potassium channel regulator isoform 1				ENSP00000324191		2-Jan									COSM2151593	2-Jan	.		ENST00000312942	Transcript				voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity	ENSG00000198553	g.chr13:50589662G>C	18893			LOW								--	--	1																																		DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.2_Silent_p.V11V|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR	1	1			p.V11V	NM_173605	NP_775876			1	KCNRG_HUMAN	KCNRG	HGNC	Q8N5I3	KCNRG_HUMAN		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)			1	273	+		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	UPI000000D8AF	11			BTB.		SNV	KCNRG,synonymous_variant,p.=,ENST00000360473,NM_199464.2;KCNRG,synonymous_variant,p.=,ENST00000312942,NM_173605.1;TRIM13,3_prime_UTR_variant,,ENST00000378182,NM_213590.1,NM_001007278.1,NM_052811.2,NM_005798.3;TRIM13,downstream_gene_variant,,ENST00000420995,;TRIM13,downstream_gene_variant,,ENST00000356017,;TRIM13,downstream_gene_variant,,ENST00000457662,;TRIM13,downstream_gene_variant,,ENST00000378183,;TRIM13,downstream_gene_variant,,ENST00000298772,;TRIM13,downstream_gene_variant,,ENST00000442421,;TRIM13,intron_variant,,ENST00000478111,;TRIM13,intron_variant,,ENST00000474805,;	uc001vdu.2	c.33G>C	273/1527	4	4			c.33G>C						13	SNP	c.(31-33)GTG>GTC	40	40				0	Broad	potassium channel regulator isoform 1			50589662		0.433	ENSG00000198553	7950	g.chr13:50589662G>C		voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity							186.42049	KEEP	47	19	-1	59	25	47	19	-1	186.949165	59	25	0.432836	1	0	0	0	0	0	0	1	0	--	--		0	C			DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.2_Silent_p.V11V|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR	64	GBM-06-0686-TP	p.V11V	G	CTTTGAATGTGGGAGGGAAGA	NM_173605	NP_775876	50589662	Q8N5I3	KCNRG_HUMAN	0		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)	1	273	+	C	C		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	Silent	11			BTB.			
KCNRG	0	broad.mit.edu	GRCh37	13	50589726	50589726	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01	TCGA-32-2634-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312942.1:c.97C>T	p.Arg33Cys	p.R33C	ENST00000312942	NM_173605.1	33	Cgc/Tgc	0			1			T	R/C	uc001vdu.2	protein_coding	YES	CCDS9424.1			97/819										0	c.(97-99)CGC>TGC			hmmpanther:PTHR14499:SF5,hmmpanther:PTHR14499,Pfam_domain:PF02214,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695	potassium channel regulator isoform 1				ENSP00000324191		2-Jan	8.24E-06					1.50E-05			rs751370278,COSM3399410	2-Jan	.		ENST00000312942	Transcript				voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity	ENSG00000198553	g.chr13:50589726C>T	18893			MODERATE		2.375	medium	getma.org/?cm=msa&ty=f&p=KCNRG_HUMAN&rb=7&re=98&var=R33C	getma.org/pdb.php?prot=KCNRG_HUMAN&from=7&to=98&var=R33C	getma.org/?cm=var&var=hg19,13,50589726,C,T&fts=all	R33C	--	--	1																																		DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.2_Missense_Mutation_p.R33C|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR	0,1	1		benign(0.004)	p.R33C	NM_173605	NP_775876		tolerated(0.07)	0,1	KCNRG_HUMAN	KCNRG	HGNC	Q8N5I3	KCNRG_HUMAN		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)			1	337	+		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	UPI000000D8AF	33			BTB.		SNV	KCNRG,missense_variant,p.Arg33Cys,ENST00000360473,NM_199464.2;KCNRG,missense_variant,p.Arg33Cys,ENST00000312942,NM_173605.1;TRIM13,3_prime_UTR_variant,,ENST00000378182,NM_213590.1,NM_001007278.1,NM_052811.2,NM_005798.3;TRIM13,downstream_gene_variant,,ENST00000420995,;TRIM13,downstream_gene_variant,,ENST00000356017,;TRIM13,downstream_gene_variant,,ENST00000457662,;TRIM13,downstream_gene_variant,,ENST00000378183,;TRIM13,downstream_gene_variant,,ENST00000298772,;TRIM13,downstream_gene_variant,,ENST00000442421,;TRIM13,intron_variant,,ENST00000478111,;TRIM13,intron_variant,,ENST00000474805,;	uc001vdu.2	c.97C>T	337/1527	2	2			c.97C>T						13	SNP	c.(97-99)CGC>TGC	20	20				0	Broad	potassium channel regulator isoform 1			50589726		0.408	ENSG00000198553	7950	g.chr13:50589726C>T		voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity							307.98984	KEEP	50	49	-1	15	9	50	49	-1	317.035865	15	9	0.791304	1	0	0	0	0	1	0	0	0	--	--		0	T			DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.2_Missense_Mutation_p.R33C|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR	241	GBM-32-2634-TP	p.R33C	C	TCGTTTGGCACGCATGTTAGA	NM_173605	NP_775876	50589726	Q8N5I3	KCNRG_HUMAN	0		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)	1	337	+	T	T		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	Missense_Mutation	33			BTB.			
KCNS2	3788	broad.mit.edu	GRCh37	8	99441436	99441436	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0219-01	TCGA-06-0219-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000287042.4:c.1229T>C	p.Phe410Ser	p.F410S	ENST00000287042	NM_020697.2	410	tTc/tCc	0			1			C	F/S	uc003yin.2	protein_coding	YES	CCDS6279.1			1229/1434									ovary(1)	1	c.(1228-1230)TTC>TCC			Transmembrane_helices:TMhelix,Prints_domain:PR01494,Prints_domain:PR00169,Superfamily_domains:SSF81324,Gene3D:1.10.287.70,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF60	potassium voltage-gated channel,				ENSP00000287042		2-Feb									COSM2150955	2-Feb	.		ENST00000287042	Transcript				voltage-gated potassium channel complex	voltage-gated potassium channel activity	ENSG00000156486	g.chr8:99441436T>C	6301			MODERATE		1.585	low	getma.org/?cm=msa&ty=f&p=KCNS2_HUMAN&rb=410&re=477&var=F410S	NA	getma.org/?cm=var&var=hg19,8,99441436,T,C&fts=all	F410S	--	--	1																																			1	1		probably_damaging(0.979)	p.F410S	NM_020697	NP_065748		deleterious(0)	1	KCNS2_HUMAN	KCNS2	HGNC	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)				2	1579	+	Breast(36;2.4e-06)		UPI0000001653	410			Helical; Name=Segment S6; (Potential).		SNV	KCNS2,missense_variant,p.Phe410Ser,ENST00000287042,NM_020697.2;KCNS2,missense_variant,p.Phe410Ser,ENST00000521839,;STK3,intron_variant,,ENST00000517832,;	uc003yin.2	c.1229T>C	1579/5219	4	4			c.1229T>C						8	SNP	c.(1228-1230)TTC>TCC	46	46			ovary(1)	1	Broad	potassium voltage-gated channel,			99441436		0.552	ENSG00000156486	7952	g.chr8:99441436T>C		voltage-gated potassium channel complex	voltage-gated potassium channel activity	Pancreas(138;844 2489 9202 24627)			Pancreas(138;844 2489 9202 24627)			148.162371	KEEP	31	32	-1	78	84	31	32	-1	158.308585	78	84	0.259067	1	0	0	0	0	1	0	0	0	--	--		0	C				52	GBM-06-0219-TP	p.F410S	T	ACCTTGATCTTCAATAAGTTC	NM_020697	NP_065748	99441436	Q9ULS6	KCNS2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	1579	+	C	C	Breast(36;2.4e-06)		Missense_Mutation	410			Helical; Name=Segment S6; (Potential).			
KCNS2	0	broad.mit.edu	GRCh37	8	99440635	99440635	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01	TCGA-27-2527-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000287042.4:c.428G>A	p.Ser143Asn	p.S143N	ENST00000287042	NM_020697.2	143	aGc/aAc	0			1			A	S/N	uc003yin.2	protein_coding	YES	CCDS6279.1			428/1434									ovary(1)	1	c.(427-429)AGC>AAC			hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF60	potassium voltage-gated channel,				ENSP00000287042		2-Feb									COSM3413186	2-Feb	.		ENST00000287042	Transcript				voltage-gated potassium channel complex	voltage-gated potassium channel activity	ENSG00000156486	g.chr8:99440635G>A	6301			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=KCNS2_HUMAN&rb=119&re=228&var=S143N	NA	getma.org/?cm=var&var=hg19,8,99440635,G,A&fts=all	S143N	--	--	1																																			1	1		probably_damaging(0.954)	p.S143N	NM_020697	NP_065748		deleterious(0.01)	1	KCNS2_HUMAN	KCNS2	HGNC	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)				2	778	+	Breast(36;2.4e-06)		UPI0000001653	143			Cytoplasmic (Potential).		SNV	KCNS2,missense_variant,p.Ser143Asn,ENST00000287042,NM_020697.2;KCNS2,missense_variant,p.Ser143Asn,ENST00000521839,;STK3,intron_variant,,ENST00000517832,;	uc003yin.2	c.428G>A	778/5219	2	2			c.428G>A						8	SNP	c.(427-429)AGC>AAC	43	43			ovary(1)	1	Broad	potassium voltage-gated channel,			99440635		0.582	ENSG00000156486	7952	g.chr8:99440635G>A		voltage-gated potassium channel complex	voltage-gated potassium channel activity	Pancreas(138;844 2489 9202 24627)			Pancreas(138;844 2489 9202 24627)			10.716007	KEEP	7	5	-1	44	56	7	5	-1	26.140032	44	56	0.114286	1	0	0	0	0	1	0	0	0	--	--		0	A				204	GBM-27-2527-TP	p.S143N	G	GACCAGGAGAGCACCACGTCT	NM_020697	NP_065748	99440635	Q9ULS6	KCNS2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	778	+	A	A	Breast(36;2.4e-06)		Missense_Mutation	143			Cytoplasmic (Potential).			
KCNS2	0	broad.mit.edu	GRCh37	8	99441064	99441064	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-4928-01	TCGA-76-4928-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000287042.4:c.857C>A	p.Thr286Asn	p.T286N	ENST00000287042	NM_020697.2	286	aCt/aAt	0			1			A	T/N	uc003yin.2	protein_coding	YES	CCDS6279.1			857/1434									ovary(1)	1	c.(856-858)ACT>AAT			Superfamily_domains:SSF81324,Pfam_domain:PF00520,Gene3D:1.20.120.350,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF60	potassium voltage-gated channel,				ENSP00000287042		2-Feb									COSM3413187	2-Feb	.		ENST00000287042	Transcript				voltage-gated potassium channel complex	voltage-gated potassium channel activity	ENSG00000156486	g.chr8:99441064C>A	6301			MODERATE		-0.16	neutral	getma.org/?cm=msa&ty=f&p=KCNS2_HUMAN&rb=229&re=409&var=T286N	getma.org/pdb.php?prot=KCNS2_HUMAN&from=229&to=409&var=T286N	getma.org/?cm=var&var=hg19,8,99441064,C,A&fts=all	T286N	--	--	1																																			1	1		benign(0.293)	p.T286N	NM_020697	NP_065748		tolerated(0.16)	1	KCNS2_HUMAN	KCNS2	HGNC	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)				2	1207	+	Breast(36;2.4e-06)		UPI0000001653	286			Extracellular (Potential).		SNV	KCNS2,missense_variant,p.Thr286Asn,ENST00000287042,NM_020697.2;KCNS2,missense_variant,p.Thr286Asn,ENST00000521839,;STK3,intron_variant,,ENST00000517832,;	uc003yin.2	c.857C>A	1207/5219	2	2			c.857C>A						8	SNP	c.(856-858)ACT>AAT	30	30			ovary(1)	1	Broad	potassium voltage-gated channel,			99441064		0.557	ENSG00000156486	7952	g.chr8:99441064C>A		voltage-gated potassium channel complex	voltage-gated potassium channel activity	Pancreas(138;844 2489 9202 24627)			Pancreas(138;844 2489 9202 24627)			131.508893	KEEP	28	33	0.540983607	95	91	28	33	0.540983607	144.017033	95	91	0.25	1	0	0	0	0	1	0	0	0	--	--		0	A				268	GBM-76-4928-TP	p.T286N	C	AGCACACCTACTTTAGCCAAC	NM_020697	NP_065748	99441064	Q9ULS6	KCNS2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	1207	+	A	A	Breast(36;2.4e-06)		Missense_Mutation	286			Extracellular (Potential).			
KCNS3	0	broad.mit.edu	GRCh37	2	18112318	18112318	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304101.4:c.43G>A	p.Glu15Lys	p.E15K	ENST00000304101	NM_002252.3	15	Gaa/Aaa	0			1			A	E/K	uc002rcv.2	protein_coding		CCDS1692.1			43/1476									ovary(4)	4	c.(43-45)GAA>AAA			Gene3D:3.30.710.10,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF39,SMART_domains:SM00225,Superfamily_domains:SSF54695	potassium voltage-gated channel				ENSP00000305824		3-Mar									COSM3407374	3-Mar	.		ENST00000304101	Transcript			energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	ENSG00000170745	g.chr2:18112318G>A	6302			MODERATE		1.255	low	getma.org/?cm=msa&ty=f&p=KCNS3_HUMAN&rb=1&re=46&var=E15K	NA	getma.org/?cm=var&var=hg19,2,18112318,G,A&fts=all	E15K	--	--	1																																		KCNS3_uc002rcw.2_Missense_Mutation_p.E15K	1			benign(0.298)	p.E15K	NM_002252	NP_002243		tolerated(0.31)	1	KCNS3_HUMAN	KCNS3	HGNC	Q9BQ31	KCNS3_HUMAN			C9J187_HUMAN		3	494	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		UPI000013E93A	15			Cytoplasmic (Potential).		SNV	KCNS3,missense_variant,p.Glu15Lys,ENST00000403915,NM_001282428.1;KCNS3,missense_variant,p.Glu15Lys,ENST00000304101,NM_002252.3;KCNS3,missense_variant,p.Glu15Lys,ENST00000419802,;KCNS3,intron_variant,,ENST00000465292,;	uc002rcv.2	c.43G>A	423/2333	2	2			c.43G>A						2	SNP	c.(43-45)GAA>AAA	35	35			ovary(4)	4	Broad	potassium voltage-gated channel			18112318		0.537	ENSG00000170745	7953	g.chr2:18112318G>A	energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity							130.34721	KEEP	25	26	-1	59	54	25	26	-1	134.799654	59	54	0.317881	1	0	0	0	0	1	0	0	0	--	--		0	A			KCNS3_uc002rcw.2_Missense_Mutation_p.E15K	190	GBM-27-1831-TP	p.E15K	G	ACAAGACGAGGAACTTGTCAA	NM_002252	NP_002243	18112318	Q9BQ31	KCNS3_HUMAN	0			3	494	+	A	A	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		Missense_Mutation	15			Cytoplasmic (Potential).			
KCNT1	57582	broad.mit.edu	GRCh37	9	138671275	138671275	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01	TCGA-06-0744-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371757.2:c.2800G>A	p.Ala934Thr	p.A934T	ENST00000371757	NM_020822.2	934	Gcc/Acc	0			1			A	A/T	uc011mdq.1	protein_coding					2743/3708						pathogenic			large_intestine(2)|ovary(1)|pancreas(1)	4	c.(2800-2802)GCC>ACC			hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF14	potassium channel, subfamily T, member 1				ENSP00000419007		24/32									rs397515403,COSM3413454,COSM3413455	24/32	.		ENST00000488444	Transcript	1			membrane	binding|calcium-activated potassium channel activity	ENSG00000107147	g.chr9:138671275G>A	18865			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=KCNT1_HUMAN&rb=781&re=980&var=A915T	getma.org/pdb.php?prot=KCNT1_HUMAN&from=781&to=980&var=A915T	getma.org/?cm=var&var=hg19,9,138671275,G,A&fts=all	A915T	--	--	1																																		KCNT1_uc011mdr.1_Missense_Mutation_p.A761T|KCNT1_uc010nbf.2_Missense_Mutation_p.A889T|KCNT1_uc004cgo.1_Missense_Mutation_p.A683T	1,1,1			probably_damaging(0.918)	p.A934T	NM_020822	NP_065873		deleterious(0.01)	0,1,1		KCNT1	HGNC	Q5JUK3	KCNT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	C9JZ51_HUMAN		24	2874	+		Myeloproliferative disorder(178;0.0821)	UPI0002B831D7	934					SNV	KCNT1,missense_variant,p.Ala934Thr,ENST00000298480,;KCNT1,missense_variant,p.Ala934Thr,ENST00000371757,NM_020822.2;KCNT1,missense_variant,p.Ala889Thr,ENST00000487664,NM_001272003.1;KCNT1,missense_variant,p.Ala915Thr,ENST00000263604,;KCNT1,missense_variant,p.Ala901Thr,ENST00000491806,;KCNT1,missense_variant,p.Ala915Thr,ENST00000488444,;KCNT1,missense_variant,p.Ala893Thr,ENST00000486577,;KCNT1,missense_variant,p.Ala913Thr,ENST00000490355,;KCNT1,3_prime_UTR_variant,,ENST00000460750,;KCNT1,non_coding_transcript_exon_variant,,ENST00000490363,;	uc011mdq.1	c.2800G>A	2751/3719	2	2			c.2800G>A						9	SNP	c.(2800-2802)GCC>ACC	18	18			large_intestine(2)|ovary(1)|pancreas(1)	4	Broad	potassium channel, subfamily T, member 1			138671275		0.622	ENSG00000107147	7954	g.chr9:138671275G>A		membrane	binding|calcium-activated potassium channel activity							-19.40034	KEEP	2	12	-1	97	142	2	12	-1	26.100165	97	142	0.061674	1	0	0	0	0	1	0	0	0	--	--		0	A			KCNT1_uc011mdr.1_Missense_Mutation_p.A761T|KCNT1_uc010nbf.2_Missense_Mutation_p.A889T|KCNT1_uc004cgo.1_Missense_Mutation_p.A683T	66	GBM-06-0744-TP	p.A934T	G	GCAGTTCCGCGCCAAGGACAG	NM_020822	NP_065873	138671275	Q5JUK3	KCNT1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	24	2874	+	A	A		Myeloproliferative disorder(178;0.0821)	Missense_Mutation	934						
KCNT1	57582	broad.mit.edu	GRCh37	9	138667205	138667205	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0878-01	TCGA-06-0878-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371757.2:c.2293A>C	p.Thr765Pro	p.T765P	ENST00000371757	NM_020822.2	765	Acc/Ccc	0			1			C	T/P	uc011mdq.1	protein_coding					2236/3708									large_intestine(2)|ovary(1)|pancreas(1)	4	c.(2293-2295)ACC>CCC			hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF14	potassium channel, subfamily T, member 1				ENSP00000419007		20/32									COSM3748414,COSM3748415	20/32	.		ENST00000488444	Transcript	1			membrane	binding|calcium-activated potassium channel activity	ENSG00000107147	g.chr9:138667205A>C	18865			MODERATE		2.985	medium	getma.org/?cm=msa&ty=f&p=KCNT1_HUMAN&rb=581&re=780&var=T746P	NA	getma.org/?cm=var&var=hg19,9,138667205,A,C&fts=all	T746P	--	--	1																																		KCNT1_uc011mdr.1_Missense_Mutation_p.T592P|KCNT1_uc010nbf.2_Missense_Mutation_p.T720P|KCNT1_uc004cgo.1_Missense_Mutation_p.T514P	1,1			benign(0.159)	p.T765P	NM_020822	NP_065873		deleterious(0)	1,1		KCNT1	HGNC	Q5JUK3	KCNT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	C9JZ51_HUMAN		20	2367	+		Myeloproliferative disorder(178;0.0821)	UPI0002B831D7	765					SNV	KCNT1,missense_variant,p.Thr765Pro,ENST00000298480,;KCNT1,missense_variant,p.Thr765Pro,ENST00000371757,NM_020822.2;KCNT1,missense_variant,p.Thr720Pro,ENST00000487664,NM_001272003.1;KCNT1,missense_variant,p.Thr746Pro,ENST00000263604,;KCNT1,missense_variant,p.Thr732Pro,ENST00000491806,;KCNT1,missense_variant,p.Thr746Pro,ENST00000488444,;KCNT1,missense_variant,p.Thr724Pro,ENST00000486577,;KCNT1,missense_variant,p.Thr744Pro,ENST00000490355,;KCNT1,3_prime_UTR_variant,,ENST00000460750,;KCNT1,non_coding_transcript_exon_variant,,ENST00000490363,;	uc011mdq.1	c.2293A>C	2244/3719	3	3			c.2293A>C						9	SNP	c.(2293-2295)ACC>CCC	5	5			large_intestine(2)|ovary(1)|pancreas(1)	4	Broad	potassium channel, subfamily T, member 1			138667205		0.662	ENSG00000107147	7954	g.chr9:138667205A>C		membrane	binding|calcium-activated potassium channel activity							0.850894	KEEP	5	10	-1	25	43	5	10	-1	7.262255	25	43	0.153846	1	0	0	0	0	1	0	0	0	--	--		0	C			KCNT1_uc011mdr.1_Missense_Mutation_p.T592P|KCNT1_uc010nbf.2_Missense_Mutation_p.T720P|KCNT1_uc004cgo.1_Missense_Mutation_p.T514P	74	GBM-06-0878-TP	p.T765P	A	CAGCTCCCCAACCCTGTGCCA	NM_020822	NP_065873	138667205	Q5JUK3	KCNT1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	20	2367	+	C	C		Myeloproliferative disorder(178;0.0821)	Missense_Mutation	765						
KCNT1	0	broad.mit.edu	GRCh37	9	138676650	138676650	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-5299-01	TCGA-12-5299-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000488444.2:c.3014G>A	p.Arg1005His	p.R1005H	ENST00000488444		1005	cGc/cAc	0			1			A	R/H	uc011mdq.1	protein_coding					3014/3708									large_intestine(2)|ovary(1)|pancreas(1)	4	c.(3070-3072)CGC>CAC			hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF14	potassium channel, subfamily T, member 1				ENSP00000419007		27/32	5.77E-05		0.00026	0.000232				0.000121	rs765283220,COSM3413456,COSM3413457	27/32	.		ENST00000488444	Transcript	1			membrane	binding|calcium-activated potassium channel activity	ENSG00000107147	g.chr9:138676650G>A	18865			MODERATE		2.61	medium	getma.org/?cm=msa&ty=f&p=KCNT1_HUMAN&rb=981&re=1180&var=R1005H	NA	getma.org/?cm=var&var=hg19,9,138676650,G,A&fts=all	R1005H	--	--	1																																		KCNT1_uc011mdr.1_Missense_Mutation_p.R851H|KCNT1_uc010nbf.2_Missense_Mutation_p.R979H|KCNT1_uc004cgo.1_Missense_Mutation_p.R773H	0,1,1			possibly_damaging(0.493)	p.R1024H	NM_020822	NP_065873		deleterious(0.01)	0,1,1		KCNT1	HGNC	Q5JUK3	KCNT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	C9JZ51_HUMAN		27	3145	+		Myeloproliferative disorder(178;0.0821)	UPI0002B831D7	1024					SNV	KCNT1,missense_variant,p.Arg1024His,ENST00000298480,;KCNT1,missense_variant,p.Arg1024His,ENST00000371757,NM_020822.2;KCNT1,missense_variant,p.Arg979His,ENST00000487664,NM_001272003.1;KCNT1,missense_variant,p.Arg1005His,ENST00000263604,;KCNT1,missense_variant,p.Arg991His,ENST00000491806,;KCNT1,missense_variant,p.Arg1005His,ENST00000488444,;KCNT1,missense_variant,p.Arg983His,ENST00000486577,;KCNT1,missense_variant,p.Arg1003His,ENST00000490355,;KCNT1,3_prime_UTR_variant,,ENST00000460750,;KCNT1,non_coding_transcript_exon_variant,,ENST00000490363,;KCNT1,upstream_gene_variant,,ENST00000475008,;	uc011mdq.1	c.3071G>A	3022/3719	2	2			c.3071G>A						9	SNP	c.(3070-3072)CGC>CAC	26	26			large_intestine(2)|ovary(1)|pancreas(1)	4	Broad	potassium channel, subfamily T, member 1			138676650		0.637	ENSG00000107147	7954	g.chr9:138676650G>A		membrane	binding|calcium-activated potassium channel activity							744.067726	KEEP	132	129	-1	60	59	132	129	-1	755.910427	60	59	0.696793	1	0	0	0	0	1	0	0	0	--	--		0	A			KCNT1_uc011mdr.1_Missense_Mutation_p.R851H|KCNT1_uc010nbf.2_Missense_Mutation_p.R979H|KCNT1_uc004cgo.1_Missense_Mutation_p.R773H	130	GBM-12-5299-TP	p.R1024H	G	ACGTACGGCCGCCTCTTCCAG	NM_020822	NP_065873	138676650	Q5JUK3	KCNT1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	27	3145	+	A	A		Myeloproliferative disorder(178;0.0821)	Missense_Mutation	1024						
KCNT1	57582		GRCh37	9	138662162	138662162	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000371757.2:c.1638G>A	p.Pro546=	p.P546=	ENST00000371757	NM_020822.2	546	ccG/ccA	0																																																																																																																																																																																																																																												
KCNT2	0	broad.mit.edu	GRCh37	1	196227421	196227421	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-12-5295-01	TCGA-12-5295-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294725.9:c.3114G>T	p.Gln1038His	p.Q1038H	ENST00000294725		1038	caG/caT	0			1			A	Q/H	uc001gtd.1	protein_coding	YES	CCDS1384.1			3114/3408									ovary(5)|breast(1)|skin(1)	7	c.(3112-3114)CAG>CAT			hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF9	potassium channel, subfamily T, member 2				ENSP00000294725		26/28									COSM3400143,COSM3400144	26/28	.		ENST00000294725	Transcript				voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	ENSG00000162687	g.chr1:196227421C>A	18866			MODERATE		2.62	medium	getma.org/?cm=msa&ty=f&p=KCNT2_HUMAN&rb=928&re=1127&var=Q1038H	NA	getma.org/?cm=var&var=hg19,1,196227421,C,A&fts=all	Q1038H	--	--	1																																		KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.Q971H|KCNT2_uc001gtf.1_Missense_Mutation_p.Q1014H|KCNT2_uc001gtg.1_RNA|KCNT2_uc001gth.1_Missense_Mutation_p.Q542H	1,1	1		probably_damaging(0.993)	p.Q1038H	NM_198503	NP_940905		deleterious(0)	1,1	KCNT2_HUMAN	KCNT2	HGNC	Q6UVM3	KCNT2_HUMAN			A9LNM6_HUMAN		26	3174	-			UPI00001E0966	1038			Cytoplasmic (Potential).		SNV	KCNT2,missense_variant,p.Gln1014His,ENST00000367433,NM_198503.2,NM_001287819.1;KCNT2,missense_variant,p.Gln972His,ENST00000367431,;KCNT2,missense_variant,p.Gln1038His,ENST00000294725,;KCNT2,missense_variant,p.Gln971His,ENST00000609185,;KCNT2,3_prime_UTR_variant,,ENST00000451324,;KCNT2,non_coding_transcript_exon_variant,,ENST00000498426,;KCNT2,non_coding_transcript_exon_variant,,ENST00000610076,;	uc001gtd.1	c.3114G>T	4030/4409	1	1			c.3114G>T						1	SNP	c.(3112-3114)CAG>CAT	56	56			ovary(5)|breast(1)|skin(1)	7	Broad	potassium channel, subfamily T, member 2			196227421		0.468	ENSG00000162687	7955	g.chr1:196227421C>A		voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity							131.517269	KEEP	29	20	0.408163265	42	38	29	20	0.408163265	132.95091	42	38	0.383333	1	0	0	0	0	1	0	0	0	--	--		0	A			KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.Q971H|KCNT2_uc001gtf.1_Missense_Mutation_p.Q1014H|KCNT2_uc001gtg.1_RNA|KCNT2_uc001gth.1_Missense_Mutation_p.Q542H	129	GBM-12-5295-TP	p.Q1038H	C	TCAGTCGCTGCTGGGTTATTT	NM_198503	NP_940905	196227421	Q6UVM3	KCNT2_HUMAN	0			26	3174	-	A	A			Missense_Mutation	1038			Cytoplasmic (Potential).			
KCNU1	157855	broad.mit.edu	GRCh37	8	36663813	36663813	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0221-01	TCGA-06-0221-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399881.3:c.495G>A	p.Lys165=	p.K165=	ENST00000399881	NM_001031836.2	165	aaG/aaA	0			1			A	K	uc010lvw.2	protein_coding	YES	CCDS55220.1			495/3450									ovary(1)	1	c.(493-495)AAG>AAA			Superfamily_domains:SSF81324,Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR10027:SF23,hmmpanther:PTHR10027	potassium channel, subfamily U, member 1				ENSP00000382770		27-May									COSM3748389,COSM3748388	27-May	.		ENST00000399881	Transcript				voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	ENSG00000215262	g.chr8:36663813G>A	18867			LOW								--	--	1																																		KCNU1_uc003xjw.2_RNA	1,1	1			p.K165K	NM_001031836	NP_001027006			1,1	KCNU1_HUMAN	KCNU1	HGNC	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)			5	582	+			UPI0000F079EF	165			Helical; Name=Segment S3; (Potential).		SNV	KCNU1,synonymous_variant,p.=,ENST00000399881,NM_001031836.2;KCNU1,synonymous_variant,p.=,ENST00000523973,;KCNU1,synonymous_variant,p.=,ENST00000522372,;KCNU1,3_prime_UTR_variant,,ENST00000522417,;	uc010lvw.2	c.495G>A	532/3695	2	2			c.495G>A						8	SNP	c.(493-495)AAG>AAA	48	48			ovary(1)	1	Broad	potassium channel, subfamily U, member 1			36663813		0.358	ENSG00000215262	7956	g.chr8:36663813G>A		voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity							33.519389	KEEP	6	7	-1	6	12	6	7	-1	33.721813	6	12	0.407407	1	0	0	0	0	0	0	1	0	--	--		0	A			KCNU1_uc003xjw.2_RNA	53	GBM-06-0221-TP	p.K165K	G	ACAAGATCAAGTTCTGGCTGG	NM_001031836	NP_001027006	36663813	A8MYU2	KCNU1_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	5	582	+	A	A			Silent	165			Helical; Name=Segment S3; (Potential).			
KCNU1	157855	broad.mit.edu	GRCh37	8	36693858	36693858	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0649-01	TCGA-06-0649-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399881.3:c.1340T>A	p.Ile447Lys	p.I447K	ENST00000399881	NM_001031836.2	447	aTa/aAa	0			1			A	I/K	uc010lvw.2	protein_coding	YES	CCDS55220.1			1340/3450									ovary(1)	1	c.(1339-1341)ATA>AAA			Prints_domain:PR01449,Gene3D:3.40.50.720,hmmpanther:PTHR10027:SF23,hmmpanther:PTHR10027	potassium channel, subfamily U, member 1				ENSP00000382770		13/27									COSM3412990,COSM3412989	13/27	.		ENST00000399881	Transcript				voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	ENSG00000215262	g.chr8:36693858T>A	18867			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=KCNU1_HUMAN&rb=339&re=482&var=I447K	getma.org/pdb.php?prot=KCNU1_HUMAN&from=339&to=482&var=I447K	getma.org/?cm=var&var=hg19,8,36693858,T,A&fts=all	I447K	--	--	1																																		KCNU1_uc003xjw.2_RNA	1,1	1		possibly_damaging(0.839)	p.I447K	NM_001031836	NP_001027006		deleterious(0)	1,1	KCNU1_HUMAN	KCNU1	HGNC	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)			13	1427	+			UPI0000F079EF	447			RCK N-terminal.|Cytoplasmic (Potential).		SNV	KCNU1,missense_variant,p.Ile447Lys,ENST00000399881,NM_001031836.2;KCNU1,missense_variant,p.Ile447Lys,ENST00000522372,;	uc010lvw.2	c.1340T>A	1377/3695	2	2			c.1340T>A						8	SNP	c.(1339-1341)ATA>AAA	34	34			ovary(1)	1	Broad	potassium channel, subfamily U, member 1			36693858		0.358	ENSG00000215262	7956	g.chr8:36693858T>A		voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity							62.957034	KEEP	23	15	-1	85	54	23	15	-1	73.945534	85	54	0.218543	1	0	0	0	0	1	0	0	0	--	--		0	A			KCNU1_uc003xjw.2_RNA	62	GBM-06-0649-TP	p.I447K	T	AGAATCATCATACAGATACTG	NM_001031836	NP_001027006	36693858	A8MYU2	KCNU1_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	13	1427	+	A	A			Missense_Mutation	447			RCK N-terminal.|Cytoplasmic (Potential).			
KCNU1	0	broad.mit.edu	GRCh37	8	36661576	36661576	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-26-5134-01	TCGA-26-5134-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399881.3:c.347C>G	p.Ser116Cys	p.S116C	ENST00000399881	NM_001031836.2	116	tCt/tGt	0			1			G	S/C	uc010lvw.2	protein_coding	YES	CCDS55220.1			347/3450									ovary(1)	1	c.(346-348)TCT>TGT			Transmembrane_helices:TMhelix,Superfamily_domains:SSF81324,Gene3D:1.10.287.70,hmmpanther:PTHR10027:SF23,hmmpanther:PTHR10027	potassium channel, subfamily U, member 1				ENSP00000382770		27-Mar									COSM3412988,COSM3412987	27-Mar	.		ENST00000399881	Transcript				voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	ENSG00000215262	g.chr8:36661576C>G	18867			MODERATE		2.07	medium	getma.org/?cm=msa&ty=f&p=KCNU1_HUMAN&rb=1&re=139&var=S116C	NA	getma.org/?cm=var&var=hg19,8,36661576,C,G&fts=all	S116C	--	--	1																																		KCNU1_uc003xjw.2_RNA	1,1	1		probably_damaging(0.987)	p.S116C	NM_001031836	NP_001027006		deleterious(0)	1,1	KCNU1_HUMAN	KCNU1	HGNC	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)			3	434	+			UPI0000F079EF	116			Helical; Name=Segment S1; (Potential).		SNV	KCNU1,missense_variant,p.Ser116Cys,ENST00000399881,NM_001031836.2;KCNU1,missense_variant,p.Ser116Cys,ENST00000523973,;KCNU1,missense_variant,p.Ser116Cys,ENST00000522372,;KCNU1,intron_variant,,ENST00000522417,;	uc010lvw.2	c.347C>G	384/3695	4	4			c.347C>G						8	SNP	c.(346-348)TCT>TGT	18	18			ovary(1)	1	Broad	potassium channel, subfamily U, member 1			36661576		0.358	ENSG00000215262	7956	g.chr8:36661576C>G		voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity							19.475227	KEEP	2	3	-1	4	1	2	3	-1	19.475227	4	1	0.5	1	0	0	0	0	1	0	0	0	--	--		0	G			KCNU1_uc003xjw.2_RNA	183	GBM-26-5134-TP	p.S116C	C	AGCATTGGGTCTCTTATAATC	NM_001031836	NP_001027006	36661576	A8MYU2	KCNU1_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	3	434	+	G	G			Missense_Mutation	116			Helical; Name=Segment S1; (Potential).			
KCNU1	0	broad.mit.edu	GRCh37	8	36766969	36766969	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-41-2575-01	TCGA-41-2575-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399881.3:c.2247G>T	p.Lys749Asn	p.K749N	ENST00000399881	NM_001031836.2	749	aaG/aaT	0			1			T	K/N	uc010lvw.2	protein_coding	YES	CCDS55220.1			2247/3450									ovary(1)	1	c.(2245-2247)AAG>AAT			Gene3D:3.40.50.720,hmmpanther:PTHR10027:SF23,hmmpanther:PTHR10027	potassium channel, subfamily U, member 1				ENSP00000382770		21/27									COSM3412992,COSM3412991	21/27	.		ENST00000399881	Transcript				voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	ENSG00000215262	g.chr8:36766969G>T	18867			MODERATE		2.69	medium	getma.org/?cm=msa&ty=f&p=KCNU1_HUMAN&rb=559&re=758&var=K749N	getma.org/pdb.php?prot=KCNU1_HUMAN&from=559&to=758&var=K749N	getma.org/?cm=var&var=hg19,8,36766969,G,T&fts=all	K749N	--	--	1																																		KCNU1_uc003xjw.2_RNA	1,1	1		probably_damaging(0.989)	p.K749N	NM_001031836	NP_001027006		deleterious(0)	1,1	KCNU1_HUMAN	KCNU1	HGNC	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)			21	2334	+			UPI0000F079EF	749			Cytoplasmic (Potential).		SNV	KCNU1,missense_variant,p.Lys749Asn,ENST00000399881,NM_001031836.2;KCNU1,missense_variant,p.Lys749Asn,ENST00000522372,;	uc010lvw.2	c.2247G>T	2284/3695	2	2			c.2247G>T						8	SNP	c.(2245-2247)AAG>AAT	36	36			ovary(1)	1	Broad	potassium channel, subfamily U, member 1			36766969		0.458	ENSG00000215262	7956	g.chr8:36766969G>T		voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity							299.316439	KEEP	68	42	0.618181818	141	120	68	42	0.618181818	311.722103	141	120	0.30226	1	0	0	0	0	1	0	0	0	--	--		0	T			KCNU1_uc003xjw.2_RNA	253	GBM-41-2575-TP	p.K749N	G	AGGAGCTGAAGGACATAGTGT	NM_001031836	NP_001027006	36766969	A8MYU2	KCNU1_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	21	2334	+	T	T			Missense_Mutation	749			Cytoplasmic (Potential).			
KCNU1	0	broad.mit.edu	GRCh37	8	36642023	36642023	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6191-01	TCGA-76-6191-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399881.3:c.95T>C	p.Phe32Ser	p.F32S	ENST00000399881	NM_001031836.2	32	tTt/tCt	0			1			C	F/S	uc010lvw.2	protein_coding	YES	CCDS55220.1			95/3450									ovary(1)	1	c.(94-96)TTT>TCT			Transmembrane_helices:TMhelix,hmmpanther:PTHR10027:SF23,hmmpanther:PTHR10027	potassium channel, subfamily U, member 1				ENSP00000382770		27-Jan										27-Jan	.		ENST00000399881	Transcript				voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	ENSG00000215262	g.chr8:36642023T>C	18867			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=KCNU1_HUMAN&rb=1&re=139&var=F32S	NA	getma.org/?cm=var&var=hg19,8,36642023,T,C&fts=all	F32S	--	--	1																																		KCNU1_uc003xjw.2_RNA		1		benign(0.163)	p.F32S	NM_001031836	NP_001027006		deleterious(0.01)		KCNU1_HUMAN	KCNU1	HGNC	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)			1	182	+			UPI0000F079EF	32			Helical; Name=Segment S0; (Potential).		SNV	KCNU1,missense_variant,p.Phe32Ser,ENST00000399881,NM_001031836.2;KCNU1,missense_variant,p.Phe32Ser,ENST00000523973,;KCNU1,missense_variant,p.Phe32Ser,ENST00000522372,;KCNU1,missense_variant,p.Phe32Ser,ENST00000522417,;	uc010lvw.2	c.95T>C	132/3695	3	3			c.95T>C						8	SNP	c.(94-96)TTT>TCT	61	61			ovary(1)	1	Broad	potassium channel, subfamily U, member 1			36642023		0.413	ENSG00000215262	7956	g.chr8:36642023T>C		voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity							95.958316	KEEP	11	18	-1	15	14	11	18	-1	95.962106	15	14	0.490566	1	0	0	0	0	1	0	0	0	--	--		0	C			KCNU1_uc003xjw.2_RNA	274	GBM-76-6191-TP	p.F32S	T	CTCTCTTCCTTTGTGACCTTC	NM_001031836	NP_001027006	36642023	A8MYU2	KCNU1_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	1	182	+	C	C			Missense_Mutation	32			Helical; Name=Segment S0; (Potential).			
KCNV1	27012	broad.mit.edu	GRCh37	8	110984522	110984522	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000524391.1:c.956C>A	p.Ala319Asp	p.A319D	ENST00000524391		319	gCt/gAt	0			1			T	A/D	uc003ynr.3	protein_coding		CCDS6314.1			956/1503									lung(1)|kidney(1)	2	c.(955-957)GCT>GAT			Gene3D:1.20.120.350,Pfam_domain:PF00520,Prints_domain:PR00169,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF38,Low_complexity_(Seg):seg,Superfamily_domains:SSF81324	potassium channel, subfamily V, member 1				ENSP00000297404		3-Feb									COSM2149569	3-Feb	.		ENST00000297404	Transcript				voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	ENSG00000164794	g.chr8:110984522G>T	18861			MODERATE		1.57	low	getma.org/?cm=msa&ty=f&p=KCNV1_HUMAN&rb=244&re=427&var=A319D	getma.org/pdb.php?prot=KCNV1_HUMAN&from=244&to=427&var=A319D	getma.org/?cm=var&var=hg19,8,110984522,G,T&fts=all	A319D	--	--	1																																		KCNV1_uc010mcw.2_Missense_Mutation_p.A319D	1			benign(0.425)	p.A319D	NM_014379	NP_055194		deleterious(0.01)	1	KCNV1_HUMAN	KCNV1	HGNC	Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		Q76FP2_HUMAN,B4DMC1_HUMAN		2	1298	-	all_neural(195;0.219)		UPI0000073DA5	319			Helical; Voltage-sensor; Name=Segment S4; (Potential).		SNV	KCNV1,missense_variant,p.Ala319Asp,ENST00000524391,;KCNV1,missense_variant,p.Ala319Asp,ENST00000297404,NM_014379.2;RP11-696P8.2,upstream_gene_variant,,ENST00000530667,;	uc003ynr.3	c.956C>A	1298/2927	2	2			c.956C>A						8	SNP	c.(955-957)GCT>GAT	34	34			lung(1)|kidney(1)	2	Broad	potassium channel, subfamily V, member 1			110984522		0.502	ENSG00000164794	7957	g.chr8:110984522G>T		voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity							59.060543	KEEP	11	12	0.47826087	20	28	11	12	0.47826087	61.189649	20	28	0.314286	1	0	0	0	0	1	0	0	0	--	--		0	T			KCNV1_uc010mcw.2_Missense_Mutation_p.A319D	18	GBM-06-0137-TP	p.A319D	G	CATGCGCAGAGCCCTGAGCAG	NM_014379	NP_055194	110984522	Q6PIU1	KCNV1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		2	1298	-	T	T	all_neural(195;0.219)		Missense_Mutation	319			Helical; Voltage-sensor; Name=Segment S4; (Potential).			
KCTD12	0	broad.mit.edu	GRCh37	13	77459429	77459429	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2638-01	TCGA-32-2638-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377474.2:c.855C>T	p.Ser285=	p.S285=	ENST00000377474	NM_138444.3	285	tcC/tcT	0			1			A	S	uc010aeu.1	protein_coding	YES	CCDS9455.1			855/978									ovary(1)	1	c.(853-855)TCC>TCT			hmmpanther:PTHR14499:SF29,hmmpanther:PTHR14499	potassium channel tetramerisation domain				ENSP00000366694		1-Jan									COSM3399448	1-Jan	.		ENST00000377474	Transcript				cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	ENSG00000178695	g.chr13:77459429G>A	14678			LOW								--	--	1																																OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	KCTD12_uc001vka.1_Silent_p.S285S	1	1			p.S285S	NM_138444	NP_612453			1	KCD12_HUMAN	KCTD12	HGNC	Q96CX2	KCD12_HUMAN		GBM - Glioblastoma multiforme(99;0.0499)			1	1112	-		Breast(118;0.212)	UPI0000073DDF	285					SNV	KCTD12,synonymous_variant,p.=,ENST00000377474,NM_138444.3;KCTD12,synonymous_variant,p.=,ENST00000317765,;AC000403.1,downstream_gene_variant,,ENST00000579275,;	uc010aeu.1	c.855C>T	1097/6214	1	1			c.855C>T						13	SNP	c.(853-855)TCC>TCT	51	51			ovary(1)	1	Broad	potassium channel tetramerisation domain			77459429		0.637	ENSG00000178695	7962	g.chr13:77459429G>A		cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity							15.936943	KEEP	3	3	-1	17	6	3	3	-1	17.852287	17	6	0.222222	1	0	0	0	0	0	0	1	0	--	--		0	A	OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	KCTD12_uc001vka.1_Silent_p.S285S	242	GBM-32-2638-TP	p.S285S	G	AGCCCGACTCGGACAGCTTGT	NM_138444	NP_612453	77459429	Q96CX2	KCD12_HUMAN	0		GBM - Glioblastoma multiforme(99;0.0499)	1	1112	-	A	A		Breast(118;0.212)	Silent	285						
KCTD14	0	broad.mit.edu	GRCh37	11	77728030	77728030	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01	TCGA-41-4097-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000353172.5:c.377C>T	p.Pro126Leu	p.P126L	ENST00000353172	NM_023930.3	126	cCa/cTa	0			1			A	P/L	uc001oyw.3	protein_coding	YES	CCDS8255.2			377/768									ovary(2)	2	c.(376-378)CCA>CTA			hmmpanther:PTHR14499:SF3,hmmpanther:PTHR14499,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695	potassium channel tetramerisation domain				ENSP00000316482		2-Feb									COSM3398148	2-Feb	.		ENST00000353172	Transcript				voltage-gated potassium channel complex	voltage-gated potassium channel activity	ENSG00000151364	g.chr11:77728030G>A	23295			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=KCD14_HUMAN&rb=33&re=130&var=P126L	NA	getma.org/?cm=var&var=hg19,11,77728030,G,A&fts=all	P126L	--	--	1																																			1	1		probably_damaging(0.995)	p.P126L	NM_023930	NP_076419		deleterious(0)	1	KCD14_HUMAN	KCTD14	HGNC	Q9BQ13	KCD14_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1e-24)		B2R9R8_HUMAN		2	402	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		UPI000003E7AB	126			BTB.		SNV	KCTD14,missense_variant,p.Pro126Leu,ENST00000353172,NM_023930.3,NM_001203262.1,NM_001203260.1;KCTD14,missense_variant,p.Pro96Leu,ENST00000533144,NM_001282406.1;NDUFC2-KCTD14,3_prime_UTR_variant,,ENST00000528251,;NDUFC2-KCTD14,downstream_gene_variant,,ENST00000530054,NM_001203261.1;RP11-7I15.3,downstream_gene_variant,,ENST00000533697,;	uc001oyw.3	c.377C>T	422/1691	1	1			c.377C>T						11	SNP	c.(376-378)CCA>CTA	56	56			ovary(2)	2	Broad	potassium channel tetramerisation domain			77728030		0.567	ENSG00000151364	7964	g.chr11:77728030G>A		voltage-gated potassium channel complex	voltage-gated potassium channel activity	NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748)		54	NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748)		54	-10.331088	KEEP	3	0	-1	36	49	3	0	-1	6.482756	36	49	0.040541	1	0	0	0	0	1	0	0	0	--	--		0	A				257	GBM-41-4097-TP	p.P126L	G	AAAGATCTGTGGCATGTCCTC	NM_023930	NP_076419	77728030	Q9BQ13	KCD14_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(8;1e-24)		2	402	-	A	A	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Missense_Mutation	126			BTB.			
KCTD15	0	broad.mit.edu	GRCh37	19	34292103	34292103	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0871-01	TCGA-14-0871-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000430256.3:c.98C>T	p.Thr33Ile	p.T33I	ENST00000430256		33	aCc/aTc	0			1			T	T/I	uc002nuy.3	protein_coding	YES	CCDS46039.1			98/852									pancreas(1)	1	c.(97-99)ACC>ATC			hmmpanther:PTHR14499:SF27,hmmpanther:PTHR14499	potassium channel tetramerisation domain				ENSP00000394390		6-Mar									COSM3404092	6-Mar	.		ENST00000430256	Transcript				voltage-gated potassium channel complex	voltage-gated potassium channel activity	ENSG00000153885	g.chr19:34292103C>T	23297			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=KCD15_HUMAN&rb=1&re=57&var=T33I	NA	getma.org/?cm=var&var=hg19,19,34292103,C,T&fts=all	T33I	--	--	1																																		KCTD15_uc002nuv.2_Missense_Mutation_p.T33I|KCTD15_uc002nuw.3_Missense_Mutation_p.T33I|KCTD15_uc010xrt.1_Missense_Mutation_p.T33I|KCTD15_uc002nux.3_Missense_Mutation_p.T33I	1	1		possibly_damaging(0.71)	p.T33I	NM_001129994	NP_001123466		deleterious_low_confidence(0.01)	1	KCD15_HUMAN	KCTD15	HGNC	Q96SI1	KCD15_HUMAN			K7EQS3_HUMAN,K7EPF0_HUMAN,K7EN63_HUMAN,K7EM48_HUMAN,K7EIF1_HUMAN		4	366	+	Esophageal squamous(110;0.162)		UPI000004D340	33					SNV	KCTD15,missense_variant,p.Thr33Ile,ENST00000284006,NM_001129994.1,NM_024076.2,NM_001129995.1;KCTD15,missense_variant,p.Thr33Ile,ENST00000430256,;KCTD15,missense_variant,p.Thr33Ile,ENST00000589786,;KCTD15,missense_variant,p.Thr33Ile,ENST00000588881,;KCTD15,missense_variant,p.Thr33Ile,ENST00000587658,;KCTD15,missense_variant,p.Thr33Ile,ENST00000587559,;KCTD15,missense_variant,p.Thr33Ile,ENST00000590771,;KCTD15,missense_variant,p.Thr33Ile,ENST00000588637,;KCTD15,missense_variant,p.Thr33Ile,ENST00000590906,;KCTD15,non_coding_transcript_exon_variant,,ENST00000592210,;	uc002nuy.3	c.98C>T	506/2555	1	1			c.98C>T						19	SNP	c.(97-99)ACC>ATC	8	8			pancreas(1)	1	Broad	potassium channel tetramerisation domain			34292103		0.582	ENSG00000153885	7965	g.chr19:34292103C>T		voltage-gated potassium channel complex	voltage-gated potassium channel activity	Melanoma(36;646 1094 5145 14504 45302)|GBM(25;193 541 1518 14388 52178)			Melanoma(36;646 1094 5145 14504 45302)|GBM(25;193 541 1518 14388 52178)			30.999288	KEEP	23	16	-1	182	130	23	16	-1	77.398819	182	130	0.112179	1	0	0	0	0	1	0	0	0	--	--		0	T			KCTD15_uc002nuv.2_Missense_Mutation_p.T33I|KCTD15_uc002nuw.3_Missense_Mutation_p.T33I|KCTD15_uc010xrt.1_Missense_Mutation_p.T33I|KCTD15_uc002nux.3_Missense_Mutation_p.T33I	141	GBM-14-0871-TP	p.T33I	C	CTGTCTCTCACCCGGTCGCCT	NM_001129994	NP_001123466	34292103	Q96SI1	KCD15_HUMAN	0			4	366	+	T	T	Esophageal squamous(110;0.162)		Missense_Mutation	33						
KCTD16	57528	broad.mit.edu	GRCh37	5	143853420	143853420	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000507359.3:c.1030C>T	p.Arg344Cys	p.R344C	ENST00000507359	NM_020768.3	344	Cgt/Tgt	0			1			T	R/C	uc003lnm.1	protein_coding	YES	CCDS34260.1			1030/1287									large_intestine(2)|ovary(1)|skin(1)	4	c.(1030-1032)CGT>TGT			hmmpanther:PTHR14499,hmmpanther:PTHR14499:SF28	potassium channel tetramerisation domain				ENSP00000426548		3-Mar									COSM1063697	3-Mar	.		ENST00000507359	Transcript				cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	ENSG00000183775	g.chr5:143853420C>T	29244			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=KCD16_HUMAN&rb=279&re=426&var=R344C	NA	getma.org/?cm=var&var=hg19,5,143853420,C,T&fts=all	R344C	--	--	1																																		KCTD16_uc003lnn.1_Missense_Mutation_p.R344C	1	1		probably_damaging(0.996)	p.R344C	NM_020768	NP_065819		deleterious(0.01)	1	KCD16_HUMAN	KCTD16	HGNC	Q68DU8	KCD16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)				4	1659	+		all_hematologic(541;0.118)	UPI000004A046	344					SNV	KCTD16,missense_variant,p.Arg344Cys,ENST00000507359,NM_020768.3;KCTD16,missense_variant,p.Arg344Cys,ENST00000512467,;	uc003lnm.1	c.1030C>T	2121/13950	1	1			c.1030C>T						5	SNP	c.(1030-1032)CGT>TGT	9	9			large_intestine(2)|ovary(1)|skin(1)	4	Broad	potassium channel tetramerisation domain			143853420		0.587	ENSG00000183775	7966	g.chr5:143853420C>T		cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity							168.688702	KEEP	18	38	-1	23	32	18	38	-1	168.707125	23	32	0.485981	1	0	0	0	0	1	0	0	0	--	--		0	T			KCTD16_uc003lnn.1_Missense_Mutation_p.R344C	12	GBM-06-0125-TP	p.R344C	C	GACTCTGGACCGTCCCATCAA	NM_020768	NP_065819	143853420	Q68DU8	KCD16_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		4	1659	+	T	T		all_hematologic(541;0.118)	Missense_Mutation	344						
KCTD16	57528	broad.mit.edu	GRCh37	5	143853547	143853547	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-5410-01	TCGA-06-5410-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000507359.3:c.1157A>C	p.Lys386Thr	p.K386T	ENST00000507359	NM_020768.3	386	aAa/aCa	0			1			C	K/T	uc003lnm.1	protein_coding	YES	CCDS34260.1			1157/1287									large_intestine(2)|ovary(1)|skin(1)	4	c.(1156-1158)AAA>ACA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14499,hmmpanther:PTHR14499:SF28,Low_complexity_(Seg):seg	potassium channel tetramerisation domain				ENSP00000426548		3-Mar									COSM3409963	3-Mar	.		ENST00000507359	Transcript				cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	ENSG00000183775	g.chr5:143853547A>C	29244			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=KCD16_HUMAN&rb=279&re=426&var=K386T	NA	getma.org/?cm=var&var=hg19,5,143853547,A,C&fts=all	K386T	--	--	1																																		KCTD16_uc003lnn.1_Missense_Mutation_p.K386T	1	1		probably_damaging(0.994)	p.K386T	NM_020768	NP_065819		tolerated(0.54)	1	KCD16_HUMAN	KCTD16	HGNC	Q68DU8	KCD16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)				4	1786	+		all_hematologic(541;0.118)	UPI000004A046	386					SNV	KCTD16,missense_variant,p.Lys386Thr,ENST00000507359,NM_020768.3;KCTD16,missense_variant,p.Lys386Thr,ENST00000512467,;	uc003lnm.1	c.1157A>C	2248/13950	3	3			c.1157A>C						5	SNP	c.(1156-1158)AAA>ACA	14	14			large_intestine(2)|ovary(1)|skin(1)	4	Broad	potassium channel tetramerisation domain			143853547		0.443	ENSG00000183775	7966	g.chr5:143853547A>C		cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity							18.915528	KEEP	9	7	-1	66	73	9	7	-1	41.616231	66	73	0.103448	1	0	0	0	0	1	0	0	0	--	--		0	C			KCTD16_uc003lnn.1_Missense_Mutation_p.K386T	93	GBM-06-5410-TP	p.K386T	A	AAAGCTGTTAAAGAAAAGCTC	NM_020768	NP_065819	143853547	Q68DU8	KCD16_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		4	1786	+	C	C		all_hematologic(541;0.118)	Missense_Mutation	386						
KCTD16	57528		GRCh37	5	143586570	143586570	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000507359.3:c.293A>T	p.Asp98Val	p.D98V	ENST00000507359	NM_020768.3	98	gAt/gTt	0																																																																																																																																																																																																																																												
KCTD18	0	broad.mit.edu	GRCh37	2	201371625	201371625	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-2624-01	TCGA-19-2624-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359878.3:c.115G>T	p.Ala39Ser	p.A39S	ENST00000359878	NM_152387.2	39	Gca/Tca	0			1			A	A/S	uc002uvs.2	protein_coding	YES	CCDS2330.1			115/1281									ovary(1)	1	c.(115-117)GCA>TCA			hmmpanther:PTHR14499:SF4,hmmpanther:PTHR14499,Gene3D:3.30.710.10,Pfam_domain:PF02214,Superfamily_domains:SSF54695	potassium channel tetramerization domain				ENSP00000352941		7-Feb	8.24E-06			0.000116					rs763515598,COSM2156195	7-Feb	.		ENST00000359878	Transcript				voltage-gated potassium channel complex	voltage-gated potassium channel activity	ENSG00000155729	g.chr2:201371625C>A	26446			MODERATE		0.77	neutral	getma.org/?cm=msa&ty=f&p=KCD18_HUMAN&rb=14&re=103&var=A39S	getma.org/pdb.php?prot=KCD18_HUMAN&from=14&to=103&var=A39S	getma.org/?cm=var&var=hg19,2,201371625,C,A&fts=all	A39S	--	--	1																																		KCTD18_uc002uvt.2_Missense_Mutation_p.A39S|KCTD18_uc002uvu.1_Missense_Mutation_p.A39S	0,1	1		possibly_damaging(0.462)	p.A39S	NM_152387	NP_689600		tolerated(0.11)	0,1	KCD18_HUMAN	KCTD18	HGNC	Q6PI47	KCD18_HUMAN					2	632	-			UPI0000209355	39			BTB.		SNV	KCTD18,missense_variant,p.Ala39Ser,ENST00000359878,NM_152387.2;KCTD18,missense_variant,p.Ala39Ser,ENST00000409157,;SGOL2,upstream_gene_variant,,ENST00000418045,;KCTD18,non_coding_transcript_exon_variant,,ENST00000468413,;KCTD18,non_coding_transcript_exon_variant,,ENST00000447556,;KCTD18,non_coding_transcript_exon_variant,,ENST00000478816,;	uc002uvs.2	c.115G>T	626/2940	2	2			c.115G>T						2	SNP	c.(115-117)GCA>TCA	47	47			ovary(1)	1	Broad	potassium channel tetramerization domain			201371625		0.458	ENSG00000155729	7968	g.chr2:201371625C>A		voltage-gated potassium channel complex	voltage-gated potassium channel activity							79.302584	KEEP	16	12	0.428571429	27	22	16	12	0.428571429	80.705912	27	22	0.355263	1	0	0	0	0	1	0	0	0	--	--		0	A			KCTD18_uc002uvt.2_Missense_Mutation_p.A39S|KCTD18_uc002uvu.1_Missense_Mutation_p.A39S	164	GBM-19-2624-TP	p.A39S	C	AACATAGATGCCAACATGGAG	NM_152387	NP_689600	201371625	Q6PI47	KCD18_HUMAN	0			2	632	-	A	A			Missense_Mutation	39			BTB.			
KCTD19	146212	broad.mit.edu	GRCh37	16	67325657	67325657	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01	TCGA-06-2559-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304372.5:c.2302G>A	p.Val768Met	p.V768M	ENST00000304372	NM_001100915.1	768	Gtg/Atg	0			1			T	V/M	uc002esu.2	protein_coding	YES	CCDS42179.1			2302/2781									skin(1)	1	c.(2302-2304)GTG>ATG				potassium channel tetramerisation domain				ENSP00000305702		13/16									rs773175029,COSM2152711	13/16	.		ENST00000304372	Transcript				voltage-gated potassium channel complex	voltage-gated potassium channel activity	ENSG00000168676	g.chr16:67325657C>T	24753			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=KCD19_HUMAN&rb=724&re=923&var=V768M	NA	getma.org/?cm=var&var=hg19,16,67325657,C,T&fts=all	V768M	--	--	1																																		KCTD19_uc002est.2_Missense_Mutation_p.V540M|KCTD19_uc010vjj.1_Missense_Mutation_p.V511M	0,1	1		possibly_damaging(0.741)	p.V768M	NM_001100915	NP_001094385		tolerated(0.11)	0,1	KCD19_HUMAN	KCTD19	HGNC	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	J3KSZ9_HUMAN,H3BVC0_HUMAN		13	2353	-		Ovarian(137;0.192)	UPI00001D7875	768					SNV	KCTD19,missense_variant,p.Val768Met,ENST00000304372,NM_001100915.1;KCTD19,intron_variant,,ENST00000562841,;PLEKHG4,downstream_gene_variant,,ENST00000360461,NM_001129727.1,NM_015432.3;PLEKHG4,downstream_gene_variant,,ENST00000379344,NM_001129729.1;PLEKHG4,downstream_gene_variant,,ENST00000450733,NM_001129731.1;PLEKHG4,downstream_gene_variant,,ENST00000427155,NM_001129728.1;PLEKHG4,downstream_gene_variant,,ENST00000569875,;KCTD19,non_coding_transcript_exon_variant,,ENST00000569333,;KCTD19,non_coding_transcript_exon_variant,,ENST00000570049,;KCTD19,non_coding_transcript_exon_variant,,ENST00000566392,;PLEKHG4,downstream_gene_variant,,ENST00000563969,;PLEKHG4,downstream_gene_variant,,ENST00000393966,;PLEKHG4,downstream_gene_variant,,ENST00000562289,;PLEKHG4,downstream_gene_variant,,ENST00000567136,;	uc002esu.2	c.2302G>A	2358/2958	1	1			c.2302G>A						16	SNP	c.(2302-2304)GTG>ATG	5	5			skin(1)	1	Broad	potassium channel tetramerisation domain			67325657		0.572	ENSG00000168676	7969	g.chr16:67325657C>T		voltage-gated potassium channel complex	voltage-gated potassium channel activity							66.806437	KEEP	18	12	-1	51	34	18	12	-1	71.851717	51	34	0.262626	1	0	0	0	0	1	0	0	0	--	--		0	T			KCTD19_uc002est.2_Missense_Mutation_p.V540M|KCTD19_uc010vjj.1_Missense_Mutation_p.V511M	83	GBM-06-2559-TP	p.V768M	C	CTGCCCACCACGGGGGGGTGA	NM_001100915	NP_001094385	67325657	Q17RG1	KCD19_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	13	2353	-	T	T		Ovarian(137;0.192)	Missense_Mutation	768						
KCTD19	0	broad.mit.edu	GRCh37	16	67331487	67331487	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-26-1442-01	TCGA-26-1442-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304372.5:c.1066A>G	p.Arg356Gly	p.R356G	ENST00000304372	NM_001100915.1	356	Agg/Ggg	0			1			C	R/G	uc002esu.2	protein_coding	YES	CCDS42179.1			1066/2781									skin(1)	1	c.(1066-1068)AGG>GGG			hmmpanther:PTHR14499,hmmpanther:PTHR14499:SF20	potassium channel tetramerisation domain				ENSP00000305702		16-Jul									COSM3748002	16-Jul	.		ENST00000304372	Transcript				voltage-gated potassium channel complex	voltage-gated potassium channel activity	ENSG00000168676	g.chr16:67331487T>C	24753			MODERATE		-0.69	neutral	getma.org/?cm=msa&ty=f&p=KCD19_HUMAN&rb=294&re=493&var=R356G	NA	getma.org/?cm=var&var=hg19,16,67331487,T,C&fts=all	R356G	--	--	1																																		KCTD19_uc002est.2_Missense_Mutation_p.R128G|KCTD19_uc010vjj.1_Missense_Mutation_p.R99G	1	1		benign(0.003)	p.R356G	NM_001100915	NP_001094385		tolerated(0.17)	1	KCD19_HUMAN	KCTD19	HGNC	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	J3KSZ9_HUMAN,H3BVC0_HUMAN		7	1117	-		Ovarian(137;0.192)	UPI00001D7875	356					SNV	KCTD19,missense_variant,p.Arg356Gly,ENST00000304372,NM_001100915.1;KCTD19,upstream_gene_variant,,ENST00000562841,;KCTD19,downstream_gene_variant,,ENST00000562860,;KCTD19,non_coding_transcript_exon_variant,,ENST00000569333,;KCTD19,non_coding_transcript_exon_variant,,ENST00000570049,;KCTD19,non_coding_transcript_exon_variant,,ENST00000566392,;	uc002esu.2	c.1066A>G	1122/2958	3	3			c.1066A>G						16	SNP	c.(1066-1068)AGG>GGG	62	62			skin(1)	1	Broad	potassium channel tetramerisation domain			67331487		0.517	ENSG00000168676	7969	g.chr16:67331487T>C		voltage-gated potassium channel complex	voltage-gated potassium channel activity							-9.232567	KEEP	3	0	-1	35	36	3	0	-1	6.457167	35	36	0.042857	1	0	0	0	0	1	0	0	0	--	--		0	C			KCTD19_uc002est.2_Missense_Mutation_p.R128G|KCTD19_uc010vjj.1_Missense_Mutation_p.R99G	180	GBM-26-1442-TP	p.R356G	T	GTGATGTCCCTTTTGTCTAGG	NM_001100915	NP_001094385	67331487	Q17RG1	KCD19_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	7	1117	-	C	C		Ovarian(137;0.192)	Missense_Mutation	356						
KCTD19	146212		GRCh37	16	67327795	67327795	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000304372.5:c.1870A>G	p.Thr624Ala	p.T624A	ENST00000304372	NM_001100915.1	624	Acc/Gcc	0																																																																																																																																																																																																																																												
KCTD20	0	broad.mit.edu	GRCh37	6	36437942	36437942	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-4926-01	TCGA-76-4926-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373731.2:c.68A>G	p.Asp23Gly	p.D23G	ENST00000373731	NM_173562.3	23	gAt/gGt	0			1			G	D/G	uc003ome.2	protein_coding	YES	CCDS4821.1			68/1260									ovary(2)	2	c.(67-69)GAT>GGT			hmmpanther:PTHR21637,hmmpanther:PTHR21637:SF1	potassium channel tetramerisation domain				ENSP00000362836		8-Feb									COSM3748340	8-Feb	.		ENST00000373731	Transcript				voltage-gated potassium channel complex	voltage-gated potassium channel activity	ENSG00000112078	g.chr6:36437942A>G	21052			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=KCD20_HUMAN&rb=1&re=118&var=D23G	NA	getma.org/?cm=var&var=hg19,6,36437942,A,G&fts=all	D23G	--	--	1																																		KCTD20_uc011dtm.1_5'UTR|KCTD20_uc011dtn.1_5'UTR|KCTD20_uc010jwk.2_Missense_Mutation_p.D23G|KCTD20_uc011dto.1_Intron	1	1		benign(0)	p.D23G	NM_173562	NP_775833		tolerated_low_confidence(0.23)	1	KCD20_HUMAN	KCTD20	HGNC	Q7Z5Y7	KCD20_HUMAN			F5H3T3_HUMAN,C9JY11_HUMAN,C9J624_HUMAN,C9J5B3_HUMAN,B4DIP9_HUMAN		2	459	+			UPI00001AADF6	23					SNV	KCTD20,missense_variant,p.Asp23Gly,ENST00000373731,NM_173562.3;KCTD20,missense_variant,p.Asp23Gly,ENST00000449081,NM_001286579.1;KCTD20,missense_variant,p.Asp23Gly,ENST00000460983,;KCTD20,missense_variant,p.Asp23Gly,ENST00000483557,;KCTD20,missense_variant,p.Asp23Gly,ENST00000498267,;KCTD20,5_prime_UTR_variant,,ENST00000544295,;KCTD20,5_prime_UTR_variant,,ENST00000536244,NM_001286580.1;KCTD20,intron_variant,,ENST00000474988,;KCTD20,missense_variant,p.Asp23Gly,ENST00000481911,;KCTD20,missense_variant,p.Asp23Gly,ENST00000265344,;	uc003ome.2	c.68A>G	459/5619	3	3			c.68A>G						6	SNP	c.(67-69)GAT>GGT	14	14			ovary(2)	2	Broad	potassium channel tetramerisation domain			36437942		0.473	ENSG00000112078	7971	g.chr6:36437942A>G		voltage-gated potassium channel complex	voltage-gated potassium channel activity							174.045325	KEEP	24	35	-1	45	52	24	35	-1	176.145388	45	52	0.370629	1	0	0	0	0	1	0	0	0	--	--		0	G			KCTD20_uc011dtm.1_5'UTR|KCTD20_uc011dtn.1_5'UTR|KCTD20_uc010jwk.2_Missense_Mutation_p.D23G|KCTD20_uc011dto.1_Intron	266	GBM-76-4926-TP	p.D23G	A	TTAGTGGATGATACTTTAGCT	NM_173562	NP_775833	36437942	Q7Z5Y7	KCD20_HUMAN	0			2	459	+	G	G			Missense_Mutation	23						
KCTD7	0	broad.mit.edu	GRCh37	7	66240279	66240279	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149995446	by1000genomes	TCGA-28-5219-01	TCGA-28-5219-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284957.5:c.245C>T	p.Thr82Ile	p.T82I	ENST00000284957	NM_001287062.1	82	aCa/aTa	0			1			T	T/I	uc011kee.1	protein_coding	YES	CCDS5535.1			245/1476									ovary(1)	1	c.(286-288)ACA>ATA			Low_complexity_(Seg):seg,hmmpanther:PTHR23101:SF49,hmmpanther:PTHR23101	RAB guanine nucleotide exchange factor (GEF) 1				ENSP00000421124		9-Mar									COSM3412235,COSM3412236	9-Mar	.		ENST00000510829	Transcript	1		endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding	ENSG00000243335	g.chr7:66240279C>T	21957			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=E9PFK9_HUMAN&rb=54&re=253&var=T95I	NA	getma.org/?cm=var&var=hg19,7,66240279,C,T&fts=all	T95I	--	--	1																																		RABGEF1_uc003tvf.2_5'UTR|RABGEF1_uc003tvg.2_5'UTR|RABGEF1_uc010lag.2_Missense_Mutation_p.T82I|RABGEF1_uc003tvh.2_Missense_Mutation_p.T82I|RABGEF1_uc003tvi.2_5'UTR	1,1	1		benign(0.154)	p.T96I	NM_014504	NP_055319		deleterious(0.01)	1,1		KCTD7	HGNC	Q9UJ41	RABX5_HUMAN			C9JDA2_HUMAN,B3KMF1_HUMAN		3	451	+			UPI00000730D5	260					SNV	KCTD7,missense_variant,p.Thr122Ile,ENST00000380828,;KCTD7,missense_variant,p.Thr82Ile,ENST00000510829,NM_014504.2;RABGEF1,missense_variant,p.Thr82Ile,ENST00000284957,NM_001287062.1;RABGEF1,missense_variant,p.Thr95Ile,ENST00000439720,;RABGEF1,missense_variant,p.Thr82Ile,ENST00000450873,;RABGEF1,missense_variant,p.Thr96Ile,ENST00000437078,NM_001287061.1;KCTD7,missense_variant,p.Thr82Ile,ENST00000451741,;RABGEF1,downstream_gene_variant,,ENST00000442563,;RABGEF1,non_coding_transcript_exon_variant,,ENST00000484547,;RABGEF1,missense_variant,p.Thr82Ile,ENST00000607882,;KCTD7,3_prime_UTR_variant,,ENST00000503687,;	uc011kee.1	c.287C>T	399/3805	1	1			c.287C>T						7	SNP	c.(286-288)ACA>ATA	13	13			ovary(1)	1	Broad	RAB guanine nucleotide exchange factor (GEF) 1			66240279		0.483	ENSG00000243335	12756	g.chr7:66240279C>T	endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding							-41.911472	KEEP	1	5	-1	104	107	1	5	-1	8.154829	104	107	0.025	1	0	0	0	0	1	0	0	0	--	--		0	T			RABGEF1_uc003tvf.2_5'UTR|RABGEF1_uc003tvg.2_5'UTR|RABGEF1_uc010lag.2_Missense_Mutation_p.T82I|RABGEF1_uc003tvh.2_Missense_Mutation_p.T82I|RABGEF1_uc003tvi.2_5'UTR	225	GBM-28-5219-TP	p.T96I	C	CAATCCCTCACATTCTCCAAG	NM_014504	NP_055319	66240279	Q9UJ41	RABX5_HUMAN	0			3	451	+	T	T			Missense_Mutation	260						
KCTD7	0	broad.mit.edu	GRCh37	7	66270262	66270262	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-4210-01	TCGA-32-4210-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284957.5:c.956T>C	p.Leu319Pro	p.L319P	ENST00000284957	NM_001287062.1	319	cTc/cCc	0			1			C	L/P	uc011kee.1	protein_coding	YES	CCDS5535.1			956/1476									ovary(1)	1	c.(997-999)CTC>CCC			Superfamily_domains:0044157,SMART_domains:SM00167,Pfam_domain:PF02204,hmmpanther:PTHR23101:SF49,hmmpanther:PTHR23101,PROSITE_profiles:PS51205	RAB guanine nucleotide exchange factor (GEF) 1				ENSP00000421124		9-Aug									COSM3412240,COSM3412241	9-Aug	.		ENST00000510829	Transcript	1		endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding	ENSG00000243335	g.chr7:66270262T>C	21957			MODERATE		4.095	high	getma.org/?cm=msa&ty=f&p=E9PFK9_HUMAN&rb=281&re=384&var=L332P	getma.org/pdb.php?prot=E9PFK9_HUMAN&from=281&to=384&var=L332P	getma.org/?cm=var&var=hg19,7,66270262,T,C&fts=all	L332P	--	--	1																																		RABGEF1_uc003tvf.2_Missense_Mutation_p.L192P|RABGEF1_uc003tvg.2_Missense_Mutation_p.L127P|RABGEF1_uc010lag.2_Missense_Mutation_p.L319P|RABGEF1_uc003tvh.2_Missense_Mutation_p.L319P|RABGEF1_uc003tvi.2_Missense_Mutation_p.L153P	1,1	1		probably_damaging(1)	p.L333P	NM_014504	NP_055319		deleterious(0)	1,1		KCTD7	HGNC	Q9UJ41	RABX5_HUMAN			C9JDA2_HUMAN,B3KMF1_HUMAN		8	1162	+			UPI00000730D5	536			VPS9.		SNV	KCTD7,missense_variant,p.Leu359Pro,ENST00000380828,;KCTD7,missense_variant,p.Leu319Pro,ENST00000510829,NM_014504.2;RABGEF1,missense_variant,p.Leu319Pro,ENST00000284957,NM_001287062.1;RABGEF1,missense_variant,p.Leu332Pro,ENST00000439720,;RABGEF1,missense_variant,p.Leu319Pro,ENST00000450873,;RABGEF1,missense_variant,p.Leu333Pro,ENST00000437078,NM_001287061.1;KCTD7,missense_variant,p.Leu319Pro,ENST00000451741,;RABGEF1,non_coding_transcript_exon_variant,,ENST00000484547,;RABGEF1,non_coding_transcript_exon_variant,,ENST00000461017,;GTF2IRD1P1,downstream_gene_variant,,ENST00000457166,;KCTD7,3_prime_UTR_variant,,ENST00000503687,;RABGEF1,3_prime_UTR_variant,,ENST00000607882,;	uc011kee.1	c.998T>C	1110/3805	3	3			c.998T>C						7	SNP	c.(997-999)CTC>CCC	55	55			ovary(1)	1	Broad	RAB guanine nucleotide exchange factor (GEF) 1			66270262		0.522	ENSG00000243335	12756	g.chr7:66270262T>C	endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding							-72.662583	KEEP	1	3	-1	152	181	1	3	-1	8.095201	152	181	0.013378	1	0	0	0	0	1	0	0	0	--	--		0	C			RABGEF1_uc003tvf.2_Missense_Mutation_p.L192P|RABGEF1_uc003tvg.2_Missense_Mutation_p.L127P|RABGEF1_uc010lag.2_Missense_Mutation_p.L319P|RABGEF1_uc003tvh.2_Missense_Mutation_p.L319P|RABGEF1_uc003tvi.2_Missense_Mutation_p.L153P	245	GBM-32-4210-TP	p.L333P	T	CTCCCCACCCTCATCTACATT	NM_014504	NP_055319	66270262	Q9UJ41	RABX5_HUMAN	0			8	1162	+	C	C			Missense_Mutation	536			VPS9.			
KCTD8	386617	broad.mit.edu	GRCh37	4	44176993	44176993	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-02-2483-01	TCGA-02-2483-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360029.3:c.1236C>A	p.Leu412=	p.L412=	ENST00000360029	NM_198353.2	412	ctC/ctA	0			1			T	L	uc003gwu.2	protein_coding	YES	CCDS3467.1			1236/1422									central_nervous_system(2)|ovary(1)	3	c.(1234-1236)CTC>CTA			hmmpanther:PTHR14499:SF68,hmmpanther:PTHR14499	potassium channel tetramerisation domain				ENSP00000353129		2-Feb									COSM3409319	2-Feb	.		ENST00000360029	Transcript				cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	ENSG00000183783	g.chr4:44176993G>T	22394			LOW								--	--	1				HNSCC(17;0.042)																															1	1			p.L412L	NM_198353	NP_938167			1	KCTD8_HUMAN	KCTD8	HGNC	Q6ZWB6	KCTD8_HUMAN			B4DQJ9_HUMAN		2	1520	-			UPI00001C08D6	412					SNV	KCTD8,synonymous_variant,p.=,ENST00000360029,NM_198353.2;KCTD8,synonymous_variant,p.=,ENST00000515268,;	uc003gwu.2	c.1236C>A	1520/2587	1	1			c.1236C>A						4	SNP	c.(1234-1236)CTC>CTA	8	8			central_nervous_system(2)|ovary(1)	3	Broad	potassium channel tetramerisation domain			44176993		0.438	ENSG00000183783	7978	g.chr4:44176993G>T		cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity							-56.768914	KEEP	19	16	0.542857143	328	253	19	16	0.542857143	55.764028	328	253	0.052632	1	0	0	0	0	0	0	1	0	--	--	HNSCC(17;0.042)	0	T				6	GBM-02-2483-TP	p.L412L	G	GGGTCTGAAAGAGTTCACTGT	NM_198353	NP_938167	44176993	Q6ZWB6	KCTD8_HUMAN	0			2	1520	-	T	T			Silent	412						
KCTD9	0	broad.mit.edu	GRCh37	8	25287394	25287394	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2629-01	TCGA-19-2629-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221200.4:c.1149C>T	p.His383=	p.H383=	ENST00000221200	NM_017634.3	383	caC/caT	0			1			A	H	uc003xeo.2	protein_coding	YES	CCDS6048.1			1149/1170										0	c.(1147-1149)CAC>CAT			hmmpanther:PTHR14958	potassium channel tetramerisation domain				ENSP00000221200		12-Dec									COSM3412947	12-Dec	.		ENST00000221200	Transcript				voltage-gated potassium channel complex	voltage-gated potassium channel activity	ENSG00000104756	g.chr8:25287394G>A	22401			LOW								--	--	1																																		PPP2R2A_uc003xek.2_Intron|KCTD9_uc011lad.1_RNA	1	1			p.H383H	NM_017634	NP_060104			1	KCTD9_HUMAN	KCTD9	HGNC	Q7L273	KCTD9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)	K7ENB5_HUMAN		12	1307	-		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)	UPI00001540AF	383					SNV	KCTD9,synonymous_variant,p.=,ENST00000221200,NM_017634.3;RP11-395I14.2,upstream_gene_variant,,ENST00000523840,;KCTD9,3_prime_UTR_variant,,ENST00000519665,;	uc003xeo.2	c.1149C>T	1370/3398	2	2			c.1149C>T						8	SNP	c.(1147-1149)CAC>CAT	34	34				0	Broad	potassium channel tetramerisation domain			25287394		0.428	ENSG00000104756	7979	g.chr8:25287394G>A		voltage-gated potassium channel complex	voltage-gated potassium channel activity							53.848397	KEEP	21	22	-1	117	111	21	22	-1	83.974185	117	111	0.142857	1	0	0	0	0	0	0	1	0	--	--		0	A			PPP2R2A_uc003xek.2_Intron|KCTD9_uc011lad.1_RNA	166	GBM-19-2629-TP	p.H383H	G	TTTGTGACATGTGTAGTGGTG	NM_017634	NP_060104	25287394	Q7L273	KCTD9_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)	12	1307	-	A	A		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)	Silent	383						
KDELC2	143888	broad.mit.edu	GRCh37	11	108350192	108350192	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5414-01	TCGA-06-5414-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323468.5:c.1129G>A	p.Val377Met	p.V377M	ENST00000323468	NM_153705.4	377	Gtg/Atg	0		A:0	1	A:0		T	V/M	uc001pkj.2	protein_coding	YES	CCDS41711.1			1129/1524									ovary(1)	1	c.(1129-1131)GTG>ATG			hmmpanther:PTHR12203:SF18,hmmpanther:PTHR12203,Pfam_domain:PF05686,SMART_domains:SM00672	KDEL (Lys-Asp-Glu-Leu) containing 2 precursor		A:0.001		ENSP00000315386	A:0	8-Jun	2.48E-05			0.000116		1.51E-05		6.18E-05	rs531322305,COSM3397393,COSM3397394	8-Jun	.		ENST00000323468	Transcript		A:0.0002		endoplasmic reticulum lumen		ENSG00000178202	g.chr11:108350192C>T	28496			MODERATE		2.99	medium	getma.org/?cm=msa&ty=f&p=KDEL2_HUMAN&rb=151&re=505&var=V377M	NA	getma.org/?cm=var&var=hg19,11,108350192,C,T&fts=all	V377M	--	--	1																																		KDELC2_uc001pki.2_Missense_Mutation_p.V321M	0,1,1	1		probably_damaging(1)	p.V377M	NM_153705	NP_714916	A:0	deleterious(0)	0,1,1	KDEL2_HUMAN	KDELC2	HGNC	Q7Z4H8	KDEL2_HUMAN		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)	B2R8W4_HUMAN		6	1195	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	UPI0000456580	377					SNV	KDELC2,missense_variant,p.Val321Met,ENST00000434945,;KDELC2,missense_variant,p.Val377Met,ENST00000323468,NM_153705.4;KDELC2,missense_variant,p.Val321Met,ENST00000375648,;KDELC2,intron_variant,,ENST00000530318,;KDELC2,intron_variant,,ENST00000532730,;KDELC2,downstream_gene_variant,,ENST00000524787,;KDELC2,missense_variant,p.Val321Met,ENST00000530529,;	uc001pkj.2	c.1129G>A	1195/4312	2	2			c.1129G>A						11	SNP	c.(1129-1131)GTG>ATG	18	18			ovary(1)	1	Broad	KDEL (Lys-Asp-Glu-Leu) containing 2 precursor			108350192		0.408	ENSG00000178202	7981	g.chr11:108350192C>T		endoplasmic reticulum lumen								79.039612	KEEP	16	15	-1	22	34	16	15	-1	80.889074	22	34	0.3375	1	0	0	0	0	1	0	0	0	--	--		0	T			KDELC2_uc001pki.2_Missense_Mutation_p.V321M	97	GBM-06-5414-TP	p.V377M	C	TAAGCAGCCACGGTCCCATCC	NM_153705	NP_714916	108350192	Q7Z4H8	KDEL2_HUMAN	0		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)	6	1195	-	T	T		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	Missense_Mutation	377						
KDELC2	0	broad.mit.edu	GRCh37	11	108361783	108361783	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5947-01	TCGA-19-5947-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323468.5:c.314G>A	p.Arg105Lys	p.R105K	ENST00000323468	NM_153705.4	105	aGg/aAg	0			1			T	R/K	uc001pkj.2	protein_coding	YES	CCDS41711.1			314/1524									ovary(1)	1	c.(313-315)AGG>AAG			PROSITE_profiles:PS50194,hmmpanther:PTHR12203:SF18,hmmpanther:PTHR12203,Pfam_domain:PF00630,Gene3D:2.60.40.10,SMART_domains:SM00557,Superfamily_domains:SSF81296	KDEL (Lys-Asp-Glu-Leu) containing 2 precursor				ENSP00000315386		8-Feb									COSM3397397,COSM3397398	8-Feb	.		ENST00000323468	Transcript				endoplasmic reticulum lumen		ENSG00000178202	g.chr11:108361783C>T	28496			MODERATE		1.345	low	getma.org/?cm=msa&ty=f&p=KDEL2_HUMAN&rb=26&re=131&var=R105K	getma.org/pdb.php?prot=KDEL2_HUMAN&from=26&to=131&var=R105K	getma.org/?cm=var&var=hg19,11,108361783,C,T&fts=all	R105K	--	--	1																																		KDELC2_uc001pki.2_Missense_Mutation_p.R49K	1,1	1		probably_damaging(0.995)	p.R105K	NM_153705	NP_714916		tolerated(0.41)	1,1	KDEL2_HUMAN	KDELC2	HGNC	Q7Z4H8	KDEL2_HUMAN		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)	B2R8W4_HUMAN		2	380	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	UPI0000456580	105			Filamin.		SNV	KDELC2,missense_variant,p.Arg49Lys,ENST00000434945,;KDELC2,missense_variant,p.Arg105Lys,ENST00000323468,NM_153705.4;KDELC2,missense_variant,p.Arg49Lys,ENST00000375648,;KDELC2,upstream_gene_variant,,ENST00000532730,;KDELC2,upstream_gene_variant,,ENST00000524787,;KDELC2,missense_variant,p.Arg49Lys,ENST00000530529,;	uc001pkj.2	c.314G>A	380/4312	1	1			c.314G>A						11	SNP	c.(313-315)AGG>AAG	10	10			ovary(1)	1	Broad	KDEL (Lys-Asp-Glu-Leu) containing 2 precursor			108361783		0.388	ENSG00000178202	7981	g.chr11:108361783C>T		endoplasmic reticulum lumen								23.726303	KEEP	2	8	-1	24	29	2	8	-1	29.163241	24	29	0.178571	1	0	0	0	0	1	0	0	0	--	--		0	T			KDELC2_uc001pki.2_Missense_Mutation_p.R49K	169	GBM-19-5947-TP	p.R105K	C	TTCATACATCCTATATCTCAT	NM_153705	NP_714916	108361783	Q7Z4H8	KDEL2_HUMAN	0		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)	2	380	-	T	T		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	Missense_Mutation	105			Filamin.			
KDELC2	0	broad.mit.edu	GRCh37	11	108352840	108352840	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-1979-01	TCGA-32-1979-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323468.5:c.794C>G	p.Ser265Cys	p.S265C	ENST00000323468	NM_153705.4	265	tCt/tGt	0			1			C	S/C	uc001pkj.2	protein_coding	YES	CCDS41711.1			794/1524									ovary(1)	1	c.(793-795)TCT>TGT			hmmpanther:PTHR12203:SF18,hmmpanther:PTHR12203,Pfam_domain:PF05686,SMART_domains:SM00672	KDEL (Lys-Asp-Glu-Leu) containing 2 precursor				ENSP00000315386		8-Apr									COSM3397395,COSM3397396	8-Apr	.		ENST00000323468	Transcript				endoplasmic reticulum lumen		ENSG00000178202	g.chr11:108352840G>C	28496			MODERATE		2.895	medium	getma.org/?cm=msa&ty=f&p=KDEL2_HUMAN&rb=151&re=505&var=S265C	NA	getma.org/?cm=var&var=hg19,11,108352840,G,C&fts=all	S265C	--	--	1																																		KDELC2_uc001pki.2_Missense_Mutation_p.S209C	1,1	1		probably_damaging(0.984)	p.S265C	NM_153705	NP_714916		deleterious(0.02)	1,1	KDEL2_HUMAN	KDELC2	HGNC	Q7Z4H8	KDEL2_HUMAN		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)	B2R8W4_HUMAN		4	860	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	UPI0000456580	265					SNV	KDELC2,missense_variant,p.Ser209Cys,ENST00000434945,;KDELC2,missense_variant,p.Ser265Cys,ENST00000323468,NM_153705.4;KDELC2,missense_variant,p.Ser209Cys,ENST00000375648,;KDELC2,upstream_gene_variant,,ENST00000530318,;KDELC2,intron_variant,,ENST00000532730,;KDELC2,downstream_gene_variant,,ENST00000524787,;KDELC2,missense_variant,p.Ser209Cys,ENST00000530529,;	uc001pkj.2	c.794C>G	860/4312	4	4			c.794C>G						11	SNP	c.(793-795)TCT>TGT	43	43			ovary(1)	1	Broad	KDEL (Lys-Asp-Glu-Leu) containing 2 precursor			108352840		0.453	ENSG00000178202	7981	g.chr11:108352840G>C		endoplasmic reticulum lumen								160.904371	KEEP	28	31	-1	41	61	28	31	-1	163.362199	41	61	0.357664	1	0	0	0	0	1	0	0	0	--	--		0	C			KDELC2_uc001pki.2_Missense_Mutation_p.S209C	230	GBM-32-1979-TP	p.S265C	G	TGAATCCAGAGAGCCACACCA	NM_153705	NP_714916	108352840	Q7Z4H8	KDEL2_HUMAN	0		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)	4	860	-	C	C		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	Missense_Mutation	265						
KDELC2	143888		GRCh37	11	108345675	108345675	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000323468.5:c.1403A>T	p.Tyr468Phe	p.Y468F	ENST00000323468	NM_153705.4	468	tAt/tTt	0																																																																																																																																																																																																																																												
KDM1A	0	broad.mit.edu	GRCh37	1	23381588	23381589	+	frameshift_variant	Frame_Shift_Del	DEL	CA	CA	-			TCGA-32-2634-01	TCGA-32-2634-01	CA	CA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356634.3:c.759_760delCA	p.His253GlnfsTer15	p.H253Qfs*15	ENST00000356634	NM_015013.3	253	CAc/c	0			1			-	H/X	uc001bgi.2	protein_coding		CCDS30627.1			757-758/2559									ovary(1)|lung(1)	2	c.(757-759)CACfs			PROSITE_profiles:PS50934,hmmpanther:PTHR10742,hmmpanther:PTHR10742:SF245,Pfam_domain:PF04433,Gene3D:1.10.10.10,PIRSF_domain:PIRSF038051,Superfamily_domains:SSF46689	lysine-specific histone demethylase 1 isoform b				ENSP00000349049		19-May	8.24E-06		8.67E-05						rs753380832	19-May	.		ENST00000356634	Transcript			blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	ENSG00000004487	g.chr1:23381588_23381589delCA	29079	2		HIGH								--	--	1																																		KDM1A_uc001bgj.2_Frame_Shift_Del_p.H273fs					p.H253fs	NM_015013	NP_055828				KDM1A_HUMAN	KDM1A	HGNC	O60341	KDM1A_HUMAN					5	906_907	+			UPI000020466D	253			SWIRM.		deletion	KDM1A,frameshift_variant,p.His273GlnfsTer15,ENST00000400181,NM_001009999.2;KDM1A,frameshift_variant,p.His273GlnfsTer15,ENST00000542151,;KDM1A,frameshift_variant,p.His253GlnfsTer15,ENST00000356634,NM_015013.3;MIR4419A,downstream_gene_variant,,ENST00000583845,;RP1-184J9.2,intron_variant,,ENST00000427154,;KDM1A,non_coding_transcript_exon_variant,,ENST00000481879,;	uc001bgi.2	c.757_758delCA	906-907/3033	5	5			c.757_758delCA						1	DEL	c.(757-759)CACfs	22	22			ovary(1)|lung(1)	2	Broad	lysine-specific histone demethylase 1 isoform b			23381589		0.371	ENSG00000004487	7985	g.chr1:23381588_23381589delCA	blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding																				0.7	1	1	0	1	0	0	0	0	0	--	--		0	-			KDM1A_uc001bgj.2_Frame_Shift_Del_p.H273fs	241	GBM-32-2634-TP	p.H253fs	CA	CCACCGAGTTCACAGTTATTTA	NM_015013	NP_055828	23381588	O60341	KDM1A_HUMAN	0			5	906_907	+	-	-			Frame_Shift_Del	253			SWIRM.			
KDM1B	221656	broad.mit.edu	GRCh37	6	18207666	18207666	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0875-01	TCGA-06-0875-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297792.5:c.1001C>T	p.Ala334Val	p.A334V	ENST00000297792		334	gCc/gTc	0			1			T	A/V	uc003nco.1	protein_coding	YES	CCDS34343.1			1001/1773									skin(1)	1	c.(1087-1089)GCC>GTC			hmmpanther:PTHR10742:SF241,hmmpanther:PTHR10742,Pfam_domain:PF01593,Superfamily_domains:SSF51905	amine oxidase (flavin containing) domain 1				ENSP00000297792		18-Dec									COSM2151981,COSM3410825	18-Dec	.		ENST00000297792	Transcript			multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	ENSG00000165097	g.chr6:18207666C>T	21577			MODERATE		1.645	low	getma.org/?cm=msa&ty=f&p=KDM1B_HUMAN&rb=392&re=820&var=A566V	getma.org/pdb.php?prot=KDM1B_HUMAN&from=392&to=820&var=A566V	getma.org/?cm=var&var=hg19,6,18207666,C,T&fts=all	A566V	--	--	1																																		KDM1B_uc003ncn.1_Missense_Mutation_p.A334V	1,1	1		unknown(0)	p.A363V	NM_153042	NP_694587		deleterious(0.04)	1,1	KDM1B_HUMAN	KDM1B	HGNC	Q8NB78	KDM1B_HUMAN			Q08EI0_HUMAN		9	1163	+			UPI000023739E	566					SNV	KDM1B,missense_variant,p.Ala566Val,ENST00000388870,;KDM1B,missense_variant,p.Ala334Val,ENST00000397244,NM_153042.3;KDM1B,missense_variant,p.Ala334Val,ENST00000297792,;KDM1B,missense_variant,p.Ala383Val,ENST00000449850,;KDM1B,intron_variant,,ENST00000546309,;	uc003nco.1	c.1088C>T	1178/3811	2	2			c.1088C>T						6	SNP	c.(1087-1089)GCC>GTC	18	18			skin(1)	1	Broad	amine oxidase (flavin containing) domain 1			18207666		0.502	ENSG00000165097	7986	g.chr6:18207666C>T	multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding							172.154181	KEEP	37	25	-1	46	47	37	25	-1	173.281823	46	47	0.404255	1	0	0	0	0	1	0	0	0	--	--		0	T			KDM1B_uc003ncn.1_Missense_Mutation_p.A334V	71	GBM-06-0875-TP	p.A363V	C	GAATTCTTTGCCCAGTTTGCT	NM_153042	NP_694587	18207666	Q8NB78	KDM1B_HUMAN	0			9	1163	+	T	T			Missense_Mutation	566						
KDM1B	221656	broad.mit.edu	GRCh37	6	18213891	18213891	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0882-01	TCGA-06-0882-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297792.5:c.1292C>A	p.Ala431Asp	p.A431D	ENST00000297792		431	gCc/gAc	0			1			A	A/D	uc003nco.1	protein_coding	YES	CCDS34343.1			1292/1773									skin(1)	1	c.(1378-1380)GCC>GAC			hmmpanther:PTHR10742:SF241,hmmpanther:PTHR10742,Gene3D:3.90.660.10,Pfam_domain:PF01593,Superfamily_domains:SSF54373,Superfamily_domains:SSF51905	amine oxidase (flavin containing) domain 1				ENSP00000297792		15/18									COSM2152341,COSM3410826	15/18	.		ENST00000297792	Transcript			multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	ENSG00000165097	g.chr6:18213891C>A	21577			MODERATE		2.83	medium	getma.org/?cm=msa&ty=f&p=KDM1B_HUMAN&rb=392&re=820&var=A663D	getma.org/pdb.php?prot=KDM1B_HUMAN&from=392&to=820&var=A663D	getma.org/?cm=var&var=hg19,6,18213891,C,A&fts=all	A663D	--	--	1																																		KDM1B_uc003ncn.1_Missense_Mutation_p.A431D|KDM1B_uc003ncp.1_Missense_Mutation_p.A16D|KDM1B_uc003ncq.1_Missense_Mutation_p.A16D	1,1	1		unknown(0)	p.A460D	NM_153042	NP_694587		deleterious(0)	1,1	KDM1B_HUMAN	KDM1B	HGNC	Q8NB78	KDM1B_HUMAN			Q08EI0_HUMAN		12	1454	+			UPI000023739E	663					SNV	KDM1B,missense_variant,p.Ala664Asp,ENST00000388870,;KDM1B,missense_variant,p.Ala432Asp,ENST00000397244,NM_153042.3;KDM1B,missense_variant,p.Ala431Asp,ENST00000297792,;KDM1B,missense_variant,p.Ala481Asp,ENST00000449850,;KDM1B,intron_variant,,ENST00000546309,;	uc003nco.1	c.1379C>A	1469/3811	1	1			c.1379C>A						6	SNP	c.(1378-1380)GCC>GAC	51	51			skin(1)	1	Broad	amine oxidase (flavin containing) domain 1			18213891		0.463	ENSG00000165097	7986	g.chr6:18213891C>A	multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding							251.917611	KEEP	72	48	0.4	263	154	72	48	0.4	282.897745	263	154	0.232558	1	0	0	0	0	1	0	0	0	--	--		0	A			KDM1B_uc003ncn.1_Missense_Mutation_p.A431D|KDM1B_uc003ncp.1_Missense_Mutation_p.A16D|KDM1B_uc003ncq.1_Missense_Mutation_p.A16D	77	GBM-06-0882-TP	p.A460D	C	TTGCAGATTGCCTTGCAATTT	NM_153042	NP_694587	18213891	Q8NB78	KDM1B_HUMAN	0			12	1454	+	A	A			Missense_Mutation	663						
KDM2B	84678	broad.mit.edu	GRCh37	12	121880300	121880300	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01	TCGA-02-2486-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377071.4:c.2944G>A	p.Glu982Lys	p.E982K	ENST00000377071	NM_032590.4	982	Gag/Aag	0			1			T	E/K	uc001uat.2	protein_coding	YES	CCDS41850.1			2944/4011									ovary(1)|skin(1)	2	c.(2944-2946)GAG>AAG			Low_complexity_(Seg):seg,hmmpanther:PTHR23123:SF10,hmmpanther:PTHR23123	F-box and leucine-rich repeat protein 10 isoform				ENSP00000366271		19/23	8.34E-06					1.62E-05			rs782132082,COSM3398448,COSM3398447,COSM3398446	19/23	.		ENST00000377071	Transcript			embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	ENSG00000089094	g.chr12:121880300C>T	13610			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=KDM2B_HUMAN&rb=729&re=1049&var=E982K	NA	getma.org/?cm=var&var=hg19,12,121880300,C,T&fts=all	E982K	--	--	1																																		KDM2B_uc001uaq.2_Missense_Mutation_p.E422K|KDM2B_uc010szy.1_Missense_Mutation_p.E422K|KDM2B_uc001uar.2_Missense_Mutation_p.E573K|KDM2B_uc001uas.2_Missense_Mutation_p.E913K|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_Missense_Mutation_p.E230K|KDM2B_uc010szx.1_Missense_Mutation_p.E230K|KDM2B_uc001uap.2_RNA	0,1,1,1	1		possibly_damaging(0.645)	p.E982K	NM_032590	NP_115979		deleterious_low_confidence(0.02)	0,1,1,1	KDM2B_HUMAN	KDM2B	HGNC	Q8NHM5	KDM2B_HUMAN			F5H7T7_HUMAN,F5H6N6_HUMAN,F5H4A7_HUMAN,F5GXC2_HUMAN		19	3048	-			UPI000006F36E	982					SNV	KDM2B,missense_variant,p.Glu913Lys,ENST00000377069,NM_001005366.1;KDM2B,missense_variant,p.Glu982Lys,ENST00000377071,NM_032590.4;KDM2B,missense_variant,p.Glu350Lys,ENST00000542973,;KDM2B,intron_variant,,ENST00000536437,;KDM2B,non_coding_transcript_exon_variant,,ENST00000538503,;KDM2B,intron_variant,,ENST00000543025,;KDM2B,downstream_gene_variant,,ENST00000538243,;KDM2B,upstream_gene_variant,,ENST00000536036,;	uc001uat.2	c.2944G>A	3017/4595	1	1			c.2944G>A						12	SNP	c.(2944-2946)GAG>AAG	13	13			ovary(1)|skin(1)	2	Broad	F-box and leucine-rich repeat protein 10 isoform			121880300		0.632	ENSG00000089094	7988	g.chr12:121880300C>T	embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding							45.138836	KEEP	13	7	-1	30	23	13	7	-1	48.201197	30	23	0.272727	1	0	0	0	0	1	0	0	0	--	--		0	T			KDM2B_uc001uaq.2_Missense_Mutation_p.E422K|KDM2B_uc010szy.1_Missense_Mutation_p.E422K|KDM2B_uc001uar.2_Missense_Mutation_p.E573K|KDM2B_uc001uas.2_Missense_Mutation_p.E913K|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_Missense_Mutation_p.E230K|KDM2B_uc010szx.1_Missense_Mutation_p.E230K|KDM2B_uc001uap.2_RNA	8	GBM-02-2486-TP	p.E982K	C	TTGGGCTCCTCGCCCTCGCTC	NM_032590	NP_115979	121880300	Q8NHM5	KDM2B_HUMAN	0			19	3048	-	T	T			Missense_Mutation	982						
KDM2B	0	broad.mit.edu	GRCh37	12	121890960	121890960	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01	TCGA-28-5208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377071.4:c.1922G>A	p.Arg641His	p.R641H	ENST00000377071	NM_032590.4	641	cGc/cAc	0			1			T	R/H	uc001uat.2	protein_coding	YES	CCDS41850.1			1922/4011									ovary(1)|skin(1)	2	c.(1921-1923)CGC>CAC			PROSITE_profiles:PS51058,hmmpanther:PTHR23123:SF10,hmmpanther:PTHR23123,Pfam_domain:PF02008	F-box and leucine-rich repeat protein 10 isoform				ENSP00000366271		13/23									COSM3398452,COSM3398451,COSM3398450	13/23	.		ENST00000377071	Transcript			embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	ENSG00000089094	g.chr12:121890960C>T	13610			MODERATE		2.76	medium	getma.org/?cm=msa&ty=f&p=KDM2B_HUMAN&rb=605&re=651&var=R641H	getma.org/pdb.php?prot=KDM2B_HUMAN&from=605&to=651&var=R641H	getma.org/?cm=var&var=hg19,12,121890960,C,T&fts=all	R641H	--	--	1																																		KDM2B_uc001uaq.2_Missense_Mutation_p.R81H|KDM2B_uc010szy.1_Missense_Mutation_p.R81H|KDM2B_uc001uar.2_Missense_Mutation_p.R232H|KDM2B_uc001uas.2_Missense_Mutation_p.R610H|KDM2B_uc001uau.2_Missense_Mutation_p.R524H	1,1,1	1		probably_damaging(0.998)	p.R641H	NM_032590	NP_115979		deleterious(0)	1,1,1	KDM2B_HUMAN	KDM2B	HGNC	Q8NHM5	KDM2B_HUMAN			F5H7T7_HUMAN,F5H6N6_HUMAN,F5H4A7_HUMAN,F5GXC2_HUMAN		13	2026	-			UPI000006F36E	641			CXXC-type.		SNV	KDM2B,missense_variant,p.Arg610His,ENST00000377069,NM_001005366.1;KDM2B,missense_variant,p.Arg641His,ENST00000377071,NM_032590.4;KDM2B,missense_variant,p.Arg9His,ENST00000542973,;KDM2B,missense_variant,p.Arg524His,ENST00000536437,;KDM2B,3_prime_UTR_variant,,ENST00000543025,;KDM2B,non_coding_transcript_exon_variant,,ENST00000538503,;KDM2B,non_coding_transcript_exon_variant,,ENST00000538243,;	uc001uat.2	c.1922G>A	1995/4595	2	2			c.1922G>A						12	SNP	c.(1921-1923)CGC>CAC	32	32			ovary(1)|skin(1)	2	Broad	F-box and leucine-rich repeat protein 10 isoform			121890960		0.706	ENSG00000089094	7988	g.chr12:121890960C>T	embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding							20.936428	KEEP	4	6	-1	20	16	4	6	-1	23.384655	20	16	0.243902	1	0	0	0	0	1	0	0	0	--	--		0	T			KDM2B_uc001uaq.2_Missense_Mutation_p.R81H|KDM2B_uc010szy.1_Missense_Mutation_p.R81H|KDM2B_uc001uar.2_Missense_Mutation_p.R232H|KDM2B_uc001uas.2_Missense_Mutation_p.R610H|KDM2B_uc001uau.2_Missense_Mutation_p.R524H	217	GBM-28-5208-TP	p.R641H	C	CTGCTTCATGCGCCCGGGGCC	NM_032590	NP_115979	121890960	Q8NHM5	KDM2B_HUMAN	0			13	2026	-	T	T			Missense_Mutation	641			CXXC-type.			
KDM2B	0	broad.mit.edu	GRCh37	12	121880495	121880495	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5213-01	TCGA-28-5213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377071.4:c.2749G>A	p.Ala917Thr	p.A917T	ENST00000377071	NM_032590.4	917	Gcg/Acg	0			1			T	A/T	uc001uat.2	protein_coding	YES	CCDS41850.1			2749/4011									ovary(1)|skin(1)	2	c.(2749-2751)GCG>ACG			hmmpanther:PTHR23123:SF10,hmmpanther:PTHR23123	F-box and leucine-rich repeat protein 10 isoform				ENSP00000366271		19/23									COSM1211714,COSM3398449,COSM1211713	19/23	.		ENST00000377071	Transcript			embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	ENSG00000089094	g.chr12:121880495C>T	13610			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=KDM2B_HUMAN&rb=729&re=1049&var=A917T	NA	getma.org/?cm=var&var=hg19,12,121880495,C,T&fts=all	A917T	--	--	1																																		KDM2B_uc001uaq.2_Missense_Mutation_p.A357T|KDM2B_uc010szy.1_Missense_Mutation_p.A357T|KDM2B_uc001uar.2_Missense_Mutation_p.A508T|KDM2B_uc001uas.2_Missense_Mutation_p.A848T|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_Missense_Mutation_p.A165T|KDM2B_uc010szx.1_Missense_Mutation_p.A165T|KDM2B_uc001uap.2_RNA	1,1,1	1		probably_damaging(0.998)	p.A917T	NM_032590	NP_115979		deleterious_low_confidence(0.02)	1,1,1	KDM2B_HUMAN	KDM2B	HGNC	Q8NHM5	KDM2B_HUMAN			F5H7T7_HUMAN,F5H6N6_HUMAN,F5H4A7_HUMAN,F5GXC2_HUMAN		19	2853	-			UPI000006F36E	917					SNV	KDM2B,missense_variant,p.Ala848Thr,ENST00000377069,NM_001005366.1;KDM2B,missense_variant,p.Ala917Thr,ENST00000377071,NM_032590.4;KDM2B,missense_variant,p.Ala285Thr,ENST00000542973,;KDM2B,intron_variant,,ENST00000536437,;KDM2B,non_coding_transcript_exon_variant,,ENST00000538503,;KDM2B,intron_variant,,ENST00000543025,;KDM2B,downstream_gene_variant,,ENST00000538243,;KDM2B,upstream_gene_variant,,ENST00000536036,;	uc001uat.2	c.2749G>A	2822/4595	2	2			c.2749G>A						12	SNP	c.(2749-2751)GCG>ACG	44	44			ovary(1)|skin(1)	2	Broad	F-box and leucine-rich repeat protein 10 isoform			121880495		0.627	ENSG00000089094	7988	g.chr12:121880495C>T	embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding							22.761489	KEEP	6	4	-1	13	12	6	4	-1	24.137693	13	12	0.28125	1	0	0	0	0	1	0	0	0	--	--		0	T			KDM2B_uc001uaq.2_Missense_Mutation_p.A357T|KDM2B_uc010szy.1_Missense_Mutation_p.A357T|KDM2B_uc001uar.2_Missense_Mutation_p.A508T|KDM2B_uc001uas.2_Missense_Mutation_p.A848T|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_Missense_Mutation_p.A165T|KDM2B_uc010szx.1_Missense_Mutation_p.A165T|KDM2B_uc001uap.2_RNA	220	GBM-28-5213-TP	p.A917T	C	CTGGGTCCCGCGGTGGGGGAG	NM_032590	NP_115979	121880495	Q8NHM5	KDM2B_HUMAN	0			19	2853	-	T	T			Missense_Mutation	917						
KDM3A	55818	broad.mit.edu	GRCh37	2	86702031	86702031	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0221-01	TCGA-06-0221-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409556.1:c.1857G>A	p.Lys619=	p.K619=	ENST00000409556		619	aaG/aaA	0			1			A	K	uc002sri.3	protein_coding		CCDS1990.1			1857/3966									breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5	c.(1855-1857)AAG>AAA			hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF7	jumonji domain containing 1A				ENSP00000323659		26-Dec									COSM3408020,COSM3408021	26-Dec	.		ENST00000312912	Transcript			androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	ENSG00000115548	g.chr2:86702031G>A	20815			LOW								--	--	1																																		KDM3A_uc010ytj.1_Silent_p.K619K|KDM3A_uc010ytk.1_Silent_p.K567K	1,1				p.K619K	NM_018433	NP_060903			1,1	KDM3A_HUMAN	KDM3A	HGNC	Q9Y4C1	KDM3A_HUMAN			C9JC73_HUMAN,C9J7Q7_HUMAN		12	2184	+			UPI0000161FAE	619					SNV	KDM3A,synonymous_variant,p.=,ENST00000409556,;KDM3A,synonymous_variant,p.=,ENST00000312912,NM_018433.5;KDM3A,synonymous_variant,p.=,ENST00000409064,NM_001146688.1;KDM3A,synonymous_variant,p.=,ENST00000542128,;KDM3A,non_coding_transcript_exon_variant,,ENST00000485171,;KDM3A,synonymous_variant,p.=,ENST00000441719,;	uc002sri.3	c.1857G>A	2184/4884	2	2			c.1857G>A						2	SNP	c.(1855-1857)AAG>AAA	33	33			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5	Broad	jumonji domain containing 1A			86702031		0.408	ENSG00000115548	7989	g.chr2:86702031G>A	androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	NSCLC(96;1150 1523 6936 46253 49736)			NSCLC(96;1150 1523 6936 46253 49736)			-6.106503	KEEP	11	14	-1	140	141	11	14	-1	45.858936	140	141	0.069853	1	0	0	0	0	0	0	1	0	--	--		0	A			KDM3A_uc010ytj.1_Silent_p.K619K|KDM3A_uc010ytk.1_Silent_p.K567K	53	GBM-06-0221-TP	p.K619K	G	ACACAGCAAAGTACATCTTGG	NM_018433	NP_060903	86702031	Q9Y4C1	KDM3A_HUMAN	0			12	2184	+	A	A			Silent	619						
KDM4D	0	broad.mit.edu	GRCh37	11	94731887	94731887	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01	TCGA-32-4213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335080.5:c.1351C>T	p.Arg451Cys	p.R451C	ENST00000335080	NM_018039.2	451	Cgt/Tgt	0	T:0.0002		1			T	R/C	uc001pfe.2	protein_coding	YES	CCDS8302.1			1351/1572										0	c.(1351-1353)CGT>TGT			Low_complexity_(Seg):seg	jumonji domain containing 2D			T:0	ENSP00000334181		3-Mar	8.24E-06				0.000151				rs372591204,COSM3398223	3-Mar	.		ENST00000335080	Transcript			chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	ENSG00000186280	g.chr11:94731887C>T	25498			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=KDM4D_HUMAN&rb=296&re=471&var=R451C	NA	getma.org/?cm=var&var=hg19,11,94731887,C,T&fts=all	R451C	--	--	1																																			0,1	1		benign(0.002)	p.R451C	NM_018039	NP_060509		tolerated(0.24)	0,1	KDM4D_HUMAN	KDM4D	HGNC	Q6B0I6	KDM4D_HUMAN					3	2183	+			UPI00001A82EC	451					SNV	KDM4D,missense_variant,p.Arg451Cys,ENST00000335080,NM_018039.2;KDM4D,missense_variant,p.Arg451Cys,ENST00000536741,;	uc001pfe.2	c.1351C>T	2183/2978	2	2			c.1351C>T						11	SNP	c.(1351-1353)CGT>TGT	28	28				0	Broad	jumonji domain containing 2D			94731887		0.602	ENSG00000186280	7994	g.chr11:94731887C>T	chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen							-10.601321	KEEP	11	2	-1	91	84	11	2	-1	22.32789	91	84	0.065476	1	0	0	0	0	1	0	0	0	--	--		0	T				247	GBM-32-4213-TP	p.R451C	C	AAATGGCAGACGTGGTCGTGG	NM_018039	NP_060509	94731887	Q6B0I6	KDM4D_HUMAN	0			3	2183	+	T	T			Missense_Mutation	451						
KDM4D	0	broad.mit.edu	GRCh37	11	94731105	94731105	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01	TCGA-41-4097-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335080.5:c.569C>T	p.Ala190Val	p.A190V	ENST00000335080	NM_018039.2	190	gCt/gTt	0			1			T	A/V	uc001pfe.2	protein_coding	YES	CCDS8302.1			569/1572										0	c.(568-570)GCT>GTT			Superfamily_domains:SSF51197,SMART_domains:SM00558,Pfam_domain:PF02373,hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF21,PROSITE_profiles:PS51184	jumonji domain containing 2D				ENSP00000334181		3-Mar									COSM3398222	3-Mar	.		ENST00000335080	Transcript			chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	ENSG00000186280	g.chr11:94731105C>T	25498			MODERATE		3.32	medium	getma.org/?cm=msa&ty=f&p=KDM4D_HUMAN&rb=179&re=295&var=A190V	getma.org/pdb.php?prot=KDM4D_HUMAN&from=179&to=295&var=A190V	getma.org/?cm=var&var=hg19,11,94731105,C,T&fts=all	A190V	--	--	1																																			1	1		possibly_damaging(0.811)	p.A190V	NM_018039	NP_060509		deleterious(0.01)	1	KDM4D_HUMAN	KDM4D	HGNC	Q6B0I6	KDM4D_HUMAN					3	1401	+			UPI00001A82EC	190			JmjC.		SNV	KDM4D,missense_variant,p.Ala190Val,ENST00000335080,NM_018039.2;KDM4D,missense_variant,p.Ala190Val,ENST00000536741,;	uc001pfe.2	c.569C>T	1401/2978	2	2			c.569C>T						11	SNP	c.(568-570)GCT>GTT	44	44				0	Broad	jumonji domain containing 2D			94731105		0.512	ENSG00000186280	7994	g.chr11:94731105C>T	chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen							17.95362	KEEP	5	10	-1	58	67	5	10	-1	36.053872	58	67	0.113821	1	0	0	0	0	1	0	0	0	--	--		0	T				257	GBM-41-4097-TP	p.A190V	C	ACCACGTTTGCTTGGCATACA	NM_018039	NP_060509	94731105	Q6B0I6	KDM4D_HUMAN	0			3	1401	+	T	T			Missense_Mutation	190			JmjC.			
KDM5A	5927	broad.mit.edu	GRCh37	12	416952	416953	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-02-0047-01	TCGA-02-0047-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399788.2:c.3597dup	p.Gly1200ArgfsTer7	p.G1200Rfs*7	ENST00000399788	NM_001042603.1	1199	-/A	0			1			T	-/X	uc001qif.1	protein_coding	YES	CCDS41736.1			3597-3598/5073	T		NUP98		AML				skin(2)|ovary(1)	3	c.(3595-3600)AAAGGAfs			Low_complexity_(Seg):seg,PROSITE_profiles:PS50016,hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF17,PROSITE_patterns:PS01359,Gene3D:3.30.40.10,Pfam_domain:PF00628,SMART_domains:SM00249,Superfamily_domains:SSF57903	retinoblastoma binding protein 2 isoform 1				ENSP00000382688		23/28									rs771545848	23/28	.		ENST00000399788	Transcript			chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000073614	g.chr12:416952_416953insT	9886			HIGH								--	--	1																																		KDM5A_uc001qie.1_Frame_Shift_Ins_p.K1199fs		1			p.K1199fs	NM_001042603	NP_001036068				KDM5A_HUMAN	KDM5A	HGNC	P29375	KDM5A_HUMAN					23	3960_3961	-			UPI0000DB2E73	1199_1200			PHD-type 2.		insertion	KDM5A,frameshift_variant,p.Gly1200ArgfsTer7,ENST00000399788,NM_001042603.1;KDM5A,frameshift_variant,p.Gly1200ArgfsTer7,ENST00000382815,;KDM5A,downstream_gene_variant,,ENST00000544760,;KDM5A,upstream_gene_variant,,ENST00000540156,;KDM5A,downstream_gene_variant,,ENST00000535269,;	uc001qif.1	c.3597_3598insA	3960-3961/10763	5	5			c.3597_3598insA	T		NUP98		AML	12	INS	c.(3595-3600)AAAGGAfs	10	10			skin(2)|ovary(1)	3	Broad	retinoblastoma binding protein 2 isoform 1			416953		0.475	ENSG00000073614	7995	g.chr12:416952_416953insT	chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			958			958														0.03	1	0	0	1	1	0	0	0	0	--	--		0	T			KDM5A_uc001qie.1_Frame_Shift_Ins_p.K1199fs	3	GBM-02-0047-TP	p.K1199fs	-	CAGCTGGATCCTTTTTTTTGGG	NM_001042603	NP_001036068	416952	P29375	KDM5A_HUMAN	0			23	3960_3961	-	T	T			Frame_Shift_Ins	1199_1200			PHD-type 2.			
KDM5A	0	broad.mit.edu	GRCh37	12	416884	416884	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-2502-01	TCGA-28-2502-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399788.2:c.3666G>A	p.Arg1222=	p.R1222=	ENST00000399788	NM_001042603.1	1222	agG/agA	0			1			T	R	uc001qif.1	protein_coding	YES	CCDS41736.1			3666/5073	T		NUP98		AML				skin(2)|ovary(1)	3	c.(3664-3666)AGG>AGA			hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF17,Gene3D:3.30.40.10,Superfamily_domains:SSF57903	retinoblastoma binding protein 2 isoform 1				ENSP00000382688		23/28									COSM3398703,COSM3398702	23/28	.		ENST00000399788	Transcript			chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000073614	g.chr12:416884C>T	9886			LOW								--	--	1																																		KDM5A_uc001qie.1_Silent_p.R1222R	1,1	1			p.R1222R	NM_001042603	NP_001036068			1,1	KDM5A_HUMAN	KDM5A	HGNC	P29375	KDM5A_HUMAN					23	4029	-			UPI0000DB2E73	1222					SNV	KDM5A,synonymous_variant,p.=,ENST00000399788,NM_001042603.1;KDM5A,synonymous_variant,p.=,ENST00000382815,;KDM5A,downstream_gene_variant,,ENST00000544760,;KDM5A,non_coding_transcript_exon_variant,,ENST00000540156,;KDM5A,downstream_gene_variant,,ENST00000535269,;	uc001qif.1	c.3666G>A	4029/10763	2	2			c.3666G>A	T		NUP98		AML	12	SNP	c.(3664-3666)AGG>AGA	43	43			skin(2)|ovary(1)	3	Broad	retinoblastoma binding protein 2 isoform 1			416884		0.478	ENSG00000073614	7995	g.chr12:416884C>T	chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			958			958	77.535791	KEEP	22	13	-1	38	59	22	13	-1	83.280349	38	59	0.268908	1	0	0	0	0	0	0	1	0	--	--		0	T			KDM5A_uc001qie.1_Silent_p.R1222R	210	GBM-28-2502-TP	p.R1222R	C	TAGTCTCTAGCCTGGGCCTTC	NM_001042603	NP_001036068	416884	P29375	KDM5A_HUMAN	0			23	4029	-	T	T			Silent	1222						
KDM5A	5927		GRCh37	12	402172	402172	+	stop_gained	Nonsense_Mutation	SNP	A	A	C			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000399788.2:c.4619T>G	p.Leu1540Ter	p.L1540*	ENST00000399788	NM_001042603.1	1540	tTa/tGa	0																																																																																																																																																																																																																																												
KDM5B	0	broad.mit.edu	GRCh37	1	202718129	202718129	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-27-1831-01	TCGA-27-1831-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367265.3:c.1960G>T	p.Asp654Tyr	p.D654Y	ENST00000367265	NM_006618.3	654	Gac/Tac	0			1			A	D/Y	uc001gyf.2	protein_coding	YES	CCDS30974.1			1960/4635									ovary(2)|breast(2)|urinary_tract(1)	5	c.(1960-1962)GAC>TAC			hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF3	jumonji, AT rich interactive domain 1B				ENSP00000356234		14/27									COSM3400215	14/27	.		ENST00000367265	Transcript			negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	ENSG00000117139	g.chr1:202718129C>A	18039			MODERATE		2.34	medium	getma.org/?cm=msa&ty=f&p=KDM5B_HUMAN&rb=603&re=691&var=D654Y	NA	getma.org/?cm=var&var=hg19,1,202718129,C,A&fts=all	D654Y	--	--	1																																		KDM5B_uc009xag.2_Missense_Mutation_p.D690Y|KDM5B_uc001gyg.1_Missense_Mutation_p.D496Y	1	1		probably_damaging(0.928)	p.D654Y	NM_006618	NP_006609		deleterious(0)	1	KDM5B_HUMAN	KDM5B	HGNC	Q9UGL1	KDM5B_HUMAN			Q9UIW7_HUMAN,Q9UFD3_HUMAN,Q9UFC7_HUMAN,Q9NSZ7_HUMAN,Q6UGB8_HUMAN,B3KV94_HUMAN,B3KMS8_HUMAN,B3KMS2_HUMAN		14	2076	-			UPI0000032AA2	654					SNV	KDM5B,missense_variant,p.Asp654Tyr,ENST00000367265,NM_006618.3;KDM5B,missense_variant,p.Asp690Tyr,ENST00000367264,;KDM5B,missense_variant,p.Asp496Tyr,ENST00000235790,;KDM5B,downstream_gene_variant,,ENST00000456180,;KDM5B,upstream_gene_variant,,ENST00000498276,;	uc001gyf.2	c.1960G>T	3125/7438	2	2			c.1960G>T						1	SNP	c.(1960-1962)GAC>TAC	35	35			ovary(2)|breast(2)|urinary_tract(1)	5	Broad	jumonji, AT rich interactive domain 1B			202718129		0.403	ENSG00000117139	7996	g.chr1:202718129C>A	negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding							-24.300647	KEEP	3	1	0.25	72	77	3	1	0.25	6.777122	72	77	0.031008	1	0	0	0	0	1	0	0	0	--	--		0	A			KDM5B_uc009xag.2_Missense_Mutation_p.D690Y|KDM5B_uc001gyg.1_Missense_Mutation_p.D496Y	190	GBM-27-1831-TP	p.D654Y	C	ATGGCCATGTCTTTCTGAACA	NM_006618	NP_006609	202718129	Q9UGL1	KDM5B_HUMAN	0			14	2076	-	A	A			Missense_Mutation	654						
KDM5B	0	broad.mit.edu	GRCh37	1	202722182	202722182	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-32-4213-01	TCGA-32-4213-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367265.3:c.1552delA	p.Thr518ProfsTer13	p.T518Pfs*13	ENST00000367265	NM_006618.3	518	Acc/cc	0			1			-	T/X	uc001gyf.2	protein_coding	YES	CCDS30974.1			1552/4635									ovary(2)|breast(2)|urinary_tract(1)	5	c.(1552-1554)ACCfs			Pfam_domain:PF02373,PROSITE_profiles:PS51184,hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF3,SMART_domains:SM00558,Superfamily_domains:SSF51197	jumonji, AT rich interactive domain 1B				ENSP00000356234		27-Dec										27-Dec	.		ENST00000367265	Transcript			negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	ENSG00000117139	g.chr1:202722182delT	18039			HIGH								--	--	1																																		KDM5B_uc009xag.2_Frame_Shift_Del_p.T554fs|KDM5B_uc001gyg.1_Frame_Shift_Del_p.T360fs		1			p.T518fs	NM_006618	NP_006609				KDM5B_HUMAN	KDM5B	HGNC	Q9UGL1	KDM5B_HUMAN			Q9UIW7_HUMAN,Q9UFD3_HUMAN,Q9UFC7_HUMAN,Q9NSZ7_HUMAN,Q6UGB8_HUMAN,B3KV94_HUMAN,B3KMS8_HUMAN,B3KMS2_HUMAN		12	1668	-			UPI0000032AA2	518			JmjC.		deletion	KDM5B,frameshift_variant,p.Thr518ProfsTer13,ENST00000367265,NM_006618.3;KDM5B,frameshift_variant,p.Thr554ProfsTer13,ENST00000367264,;KDM5B,frameshift_variant,p.Thr360ProfsTer13,ENST00000235790,;KDM5B,non_coding_transcript_exon_variant,,ENST00000456180,;	uc001gyf.2	c.1552delA	2717/7438	5	5			c.1552delA						1	DEL	c.(1552-1554)ACCfs	1	1			ovary(2)|breast(2)|urinary_tract(1)	5	Broad	jumonji, AT rich interactive domain 1B			202722182		0.423	ENSG00000117139	7996	g.chr1:202722182delT	negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding																				0	1	1	0	1	0	0	0	0	0	--	--		0	-			KDM5B_uc009xag.2_Frame_Shift_Del_p.T554fs|KDM5B_uc001gyg.1_Frame_Shift_Del_p.T360fs	247	GBM-32-4213-TP	p.T518fs	T	CCATACCAGGTTTTTGGCTCA	NM_006618	NP_006609	202722182	Q9UGL1	KDM5B_HUMAN	0			12	1668	-	-	-			Frame_Shift_Del	518			JmjC.			
KDM5D	0	broad.mit.edu	GRCh37	Y	21897252	21897252	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-12-3652-01	TCGA-12-3652-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317961.4:c.919A>T	p.Ser307Cys	p.S307C	ENST00000317961	NM_004653.4	307	Agc/Tgc	0			1			A	S/C	uc004fug.2	protein_coding	YES	CCDS14794.1			919/4620									skin(1)	1	c.(919-921)AGC>TGC			hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF31,Gene3D:3.30.40.10,Superfamily_domains:SSF57903	jumonji, AT rich interactive domain 1D isoform	Vitamin C(DB00126)			ENSP00000322408		27-Aug									COSM3408051	27-Aug	.		ENST00000317961	Transcript			chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	ENSG00000012817	g.chrY:21897252T>A	11115			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=KDM5D_HUMAN&rb=166&re=315&var=S307C	NA	getma.org/?cm=var&var=hg19,Y,21897252,T,A&fts=all	S307C	--	--	1																																		KDM5D_uc011naz.1_Missense_Mutation_p.S307C|KDM5D_uc010nwy.2_Missense_Mutation_p.S250C|KDM5D_uc011nba.1_Missense_Mutation_p.S307C|KDM5D_uc004fuh.2_Missense_Mutation_p.S262C	1	1		benign(0.004)	p.S307C	NM_004653	NP_004644		tolerated(0.18)	1	KDM5D_HUMAN	KDM5D	HGNC	Q9BY66	KDM5D_HUMAN					8	1207	-			UPI0000135A93	307					SNV	KDM5D,missense_variant,p.Ser307Cys,ENST00000541639,NM_001146705.1;KDM5D,missense_variant,p.Ser307Cys,ENST00000317961,NM_004653.4;KDM5D,missense_variant,p.Ser250Cys,ENST00000382806,NM_001146706.1;KDM5D,missense_variant,p.Ser266Cys,ENST00000440077,;KDM5D,missense_variant,p.Ser262Cys,ENST00000447300,;	uc004fug.2	c.919A>T	1191/5472	2	2			c.919A>T						24	SNP	c.(919-921)AGC>TGC	22	22			skin(1)	1	Broad	jumonji, AT rich interactive domain 1D isoform		Vitamin C(DB00126)	21897252		0.398	ENSG00000012817	7998	g.chrY:21897252T>A	chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding							238.480562	KEEP	37	38	-1	5	5	37	38	-1	249.997652	5	5	0.893333	1	0	0	0	0	1	0	0	0	--	--		0	A			KDM5D_uc011naz.1_Missense_Mutation_p.S307C|KDM5D_uc010nwy.2_Missense_Mutation_p.S250C|KDM5D_uc011nba.1_Missense_Mutation_p.S307C|KDM5D_uc004fuh.2_Missense_Mutation_p.S262C	127	GBM-12-3652-TP	p.S307C	T	TGGGCACTGCTGTGATTCTTT	NM_004653	NP_004644	21897252	Q9BY66	KDM5D_HUMAN	0			8	1207	-	A	A			Missense_Mutation	307						
KDM6A	7403		GRCh37	X	44929255	44929255	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000377967.4:c.2355G>A	p.Met785Ile	p.M785I	ENST00000377967	NM_021140.2	785	atG/atA	0																																																																																																																																																																																																																																												
KDM6A	7403		GRCh37	X	44923045	44923048	+	frameshift_variant	Frame_Shift_Del	DEL	CTAT	CTAT	-			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000377967.4:c.1909_1912del	p.Ser637ThrfsTer53	p.S637Tfs*53	ENST00000377967	NM_021140.2	636	CTATct/ct	0																																																																																																																																																																																																																																												
KDM6B	23135	broad.mit.edu	GRCh37	17	7752755	7752755	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01	TCGA-06-2558-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254846.5:c.3149C>T	p.Pro1050Leu	p.P1050L	ENST00000254846	NM_001080424.1	1050	cCa/cTa	0			1			T	P/L	uc002giw.1	protein_coding					3149/4932									central_nervous_system(1)|pancreas(1)	2	c.(3148-3150)CCA>CTA			hmmpanther:PTHR14017,hmmpanther:PTHR14017:SF5,Low_complexity_(Seg):seg	lysine (K)-specific demethylase 6B				ENSP00000412513		23-Nov									COSM2152632	23-Nov	.		ENST00000448097	Transcript			inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	ENSG00000132510	g.chr17:7752755C>T	29012			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=KDM6B_HUMAN&rb=721&re=1076&var=P1050L	NA	getma.org/?cm=var&var=hg19,17,7752755,C,T&fts=all	P1050L	--	--	1																																		KDM6B_uc002gix.2_Missense_Mutation_p.P352L	1			benign(0.145)	p.P1050L	NM_001080424	NP_001073893			1	KDM6B_HUMAN	KDM6B	HGNC	O15054	KDM6B_HUMAN					11	3525	+			UPI00001C1FC7	1050			Pro-rich.		SNV	KDM6B,missense_variant,p.Pro1050Leu,ENST00000254846,NM_001080424.1;KDM6B,missense_variant,p.Pro1050Leu,ENST00000448097,;KDM6B,downstream_gene_variant,,ENST00000570632,;KDM6B,downstream_gene_variant,,ENST00000571047,;KDM6B,downstream_gene_variant,,ENST00000575521,;	uc002giw.1	c.3149C>T	3480/5422	2	2			c.3149C>T						17	SNP	c.(3148-3150)CCA>CTA	44	44			central_nervous_system(1)|pancreas(1)	2	Broad	lysine (K)-specific demethylase 6B			7752755		0.677	ENSG00000132510	8000	g.chr17:7752755C>T	inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen							27.641315	KEEP	8	6	-1	9	15	8	6	-1	27.945566	9	15	0.384615	1	0	0	0	0	1	0	0	0	--	--		0	T			KDM6B_uc002gix.2_Missense_Mutation_p.P352L	82	GBM-06-2558-TP	p.P1050L	C	CCCACAGCTCCAGCCCCTCCA	NM_001080424	NP_001073893	7752755	O15054	KDM6B_HUMAN	0			11	3525	+	T	T			Missense_Mutation	1050			Pro-rich.			
KDM7A	80853	broad.mit.edu	GRCh37	7	139824534	139824534	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-0055-01	TCGA-02-0055-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397560.2:c.938G>A	p.Arg313His	p.R313H	ENST00000397560	NM_030647.1	313	cGt/cAt	0	T:0		1			T	R/H	uc003vvm.2	protein_coding	YES	CCDS43658.1			938/2826									ovary(1)	1	c.(937-939)CGT>CAT			PROSITE_profiles:PS51184,hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF15,Pfam_domain:PF02373,Gene3D:1vrbA01,SMART_domains:SM00558,Superfamily_domains:SSF51197	jumonji C domain containing histone demethylase			T:0.0004	ENSP00000380692		20-Jul	0.000116	0.00021				0.000188			rs369398521,COSM2149056	20-Jul	.		ENST00000397560	Transcript			midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	ENSG00000006459	g.chr7:139824534C>T	22224			MODERATE		0.425	neutral	getma.org/?cm=msa&ty=f&p=KDM7_HUMAN&rb=269&re=369&var=R313H	getma.org/pdb.php?prot=KDM7_HUMAN&from=269&to=369&var=R313H	getma.org/?cm=var&var=hg19,7,139824534,C,T&fts=all	R313H	--	--	1																																			0,1	1		possibly_damaging(0.57)	p.R313H	NM_030647	NP_085150		deleterious(0)	0,1	KDM7_HUMAN	KDM7A	HGNC	Q6ZMT4	KDM7_HUMAN					7	942	-	Melanoma(164;0.0142)		UPI000045761B	313			JmjC.		SNV	KDM7A,missense_variant,p.Arg313His,ENST00000397560,NM_030647.1;KDM7A,missense_variant,p.Arg313His,ENST00000006967,;	uc003vvm.2	c.938G>A	1036/9272	1	1			c.938G>A						7	SNP	c.(937-939)CGT>CAT	1	1			ovary(1)	1	Broad	jumonji C domain containing histone demethylase			139824534		0.358	ENSG00000006459	7812	g.chr7:139824534C>T	midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding							62.332368	KEEP	12	14	-1	35	34	12	14	-1	66.494696	35	34	0.274725	1	0	0	0	0	1	0	0	0	--	--		0	T				4	GBM-02-0055-TP	p.R313H	C	AGATTCATAACGTGCCAAATT	NM_030647	NP_085150	139824534	Q6ZMT4	KDM7_HUMAN	0			7	942	-	T	T	Melanoma(164;0.0142)		Missense_Mutation	313			JmjC.			
KDM7A	80853	broad.mit.edu	GRCh37	7	139790907	139790907	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0237-01	TCGA-06-0237-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397560.2:c.2813G>A	p.Arg938His	p.R938H	ENST00000397560	NM_030647.1	938	cGt/cAt	0			1			T	R/H	uc003vvm.2	protein_coding	YES	CCDS43658.1			2813/2826									ovary(1)	1	c.(2812-2814)CGT>CAT			hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF15	jumonji C domain containing histone demethylase				ENSP00000380692		20/20	1.65E-05					3.00E-05			rs756878349,COSM2151062	20/20	.		ENST00000397560	Transcript			midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	ENSG00000006459	g.chr7:139790907C>T	22224			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=KDM7_HUMAN&rb=881&re=940&var=R938H	NA	getma.org/?cm=var&var=hg19,7,139790907,C,T&fts=all	R938H	--	--	1																																		JHDM1D_uc010lng.2_RNA	0,1	1		probably_damaging(0.947)	p.R938H	NM_030647	NP_085150		deleterious_low_confidence(0)	0,1	KDM7_HUMAN	KDM7A	HGNC	Q6ZMT4	KDM7_HUMAN					20	2817	-	Melanoma(164;0.0142)		UPI000045761B	938					SNV	KDM7A,missense_variant,p.Arg938His,ENST00000397560,NM_030647.1;KDM7A,downstream_gene_variant,,ENST00000006967,;Y_RNA,downstream_gene_variant,,ENST00000515919,;KDM7A,3_prime_UTR_variant,,ENST00000472616,;KDM7A,non_coding_transcript_exon_variant,,ENST00000478996,;	uc003vvm.2	c.2813G>A	2911/9272	1	1			c.2813G>A						7	SNP	c.(2812-2814)CGT>CAT	11	11			ovary(1)	1	Broad	jumonji C domain containing histone demethylase			139790907		0.502	ENSG00000006459	7812	g.chr7:139790907C>T	midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding							65.68363	KEEP	18	13	-1	60	54	18	13	-1	75.376349	60	54	0.218045	1	0	0	0	0	1	0	0	0	--	--		0	T			JHDM1D_uc010lng.2_RNA	54	GBM-06-0237-TP	p.R938H	C	CACAAAGAAACGTGCATGGCC	NM_030647	NP_085150	139790907	Q6ZMT4	KDM7_HUMAN	0			20	2817	-	T	T	Melanoma(164;0.0142)		Missense_Mutation	938						
KDM7A	0	broad.mit.edu	GRCh37	7	139824534	139824534	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397560.2:c.938G>A	p.Arg313His	p.R313H	ENST00000397560	NM_030647.1	313	cGt/cAt	0	T:0		1			T	R/H	uc003vvm.2	protein_coding	YES	CCDS43658.1			938/2826									ovary(1)	1	c.(937-939)CGT>CAT			PROSITE_profiles:PS51184,hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF15,Pfam_domain:PF02373,Gene3D:1vrbA01,SMART_domains:SM00558,Superfamily_domains:SSF51197	jumonji C domain containing histone demethylase			T:0.0004	ENSP00000380692		20-Jul	0.000116	0.00021				0.000188			rs369398521,COSM2149056	20-Jul	.		ENST00000397560	Transcript			midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	ENSG00000006459	g.chr7:139824534C>T	22224			MODERATE		0.425	neutral	getma.org/?cm=msa&ty=f&p=KDM7_HUMAN&rb=269&re=369&var=R313H	getma.org/pdb.php?prot=KDM7_HUMAN&from=269&to=369&var=R313H	getma.org/?cm=var&var=hg19,7,139824534,C,T&fts=all	R313H	--	--	1																																			0,1	1		possibly_damaging(0.57)	p.R313H	NM_030647	NP_085150		deleterious(0)	0,1	KDM7_HUMAN	KDM7A	HGNC	Q6ZMT4	KDM7_HUMAN					7	942	-	Melanoma(164;0.0142)		UPI000045761B	313			JmjC.		SNV	KDM7A,missense_variant,p.Arg313His,ENST00000397560,NM_030647.1;KDM7A,missense_variant,p.Arg313His,ENST00000006967,;	uc003vvm.2	c.938G>A	1036/9272	1	1			c.938G>A						7	SNP	c.(937-939)CGT>CAT	1	1			ovary(1)	1	Broad	jumonji C domain containing histone demethylase			139824534		0.358	ENSG00000006459	7812	g.chr7:139824534C>T	midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding							77.732917	KEEP	14	15	-1	34	41	14	15	-1	81.686195	34	41	0.29	1	0	0	0	0	1	0	0	0	--	--		0	T				269	GBM-76-4929-TP	p.R313H	C	AGATTCATAACGTGCCAAATT	NM_030647	NP_085150	139824534	Q6ZMT4	KDM7_HUMAN	0			7	942	-	T	T	Melanoma(164;0.0142)		Missense_Mutation	313			JmjC.			
KDM8	0	broad.mit.edu	GRCh37	16	27225037	27225037	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0781-01	TCGA-14-0781-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286096.4:c.630C>T	p.Gly210=	p.G210=	ENST00000286096	NM_024773.2	210	ggC/ggT	0			1			T	G	uc002doh.2	protein_coding		CCDS10627.1			630/1251									ovary(2)|upper_aerodigestive_tract(1)	3	c.(628-630)GGC>GGT			Gene3D:1vrbA01,Pfam_domain:PF13621,hmmpanther:PTHR12461,hmmpanther:PTHR12461:SF11,Superfamily_domains:SSF51197	jumonji domain containing 5 isoform 2				ENSP00000286096		8-Mar									COSM3402216,COSM3402215	8-Mar	.		ENST00000286096	Transcript			G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	ENSG00000155666	g.chr16:27225037C>T	25840			LOW								--	--	1																																		JMJD5_uc010vcn.1_Silent_p.G248G|JMJD5_uc010bxw.2_Intron|JMJD5_uc010bxx.2_5'Flank	1,1				p.G210G	NM_024773	NP_079049			1,1	KDM8_HUMAN	KDM8	HGNC	Q8N371	KDM8_HUMAN			H3BR76_HUMAN,H3BM39_HUMAN,B4DPM6_HUMAN		3	812	+			UPI0000071B08	210					SNV	KDM8,synonymous_variant,p.=,ENST00000286096,NM_024773.2;KDM8,synonymous_variant,p.=,ENST00000441782,NM_001145348.1;KDM8,intron_variant,,ENST00000380948,;KDM8,intron_variant,,ENST00000568965,;KDM8,upstream_gene_variant,,ENST00000567735,;KDM8,downstream_gene_variant,,ENST00000569329,;KDM8,downstream_gene_variant,,ENST00000562733,;CTD-3203P2.1,non_coding_transcript_exon_variant,,ENST00000567108,;KDM8,upstream_gene_variant,,ENST00000567785,;KDM8,downstream_gene_variant,,ENST00000562269,;KDM8,upstream_gene_variant,,ENST00000567366,;KDM8,downstream_gene_variant,,ENST00000564961,;KDM8,upstream_gene_variant,,ENST00000563571,;KDM8,upstream_gene_variant,,ENST00000568792,;	uc002doh.2	c.630C>T	803/2458	2	2			c.630C>T						16	SNP	c.(628-630)GGC>GGT	29	29			ovary(2)|upper_aerodigestive_tract(1)	3	Broad	jumonji domain containing 5 isoform 2			27225037		0.582	ENSG00000155666	7816	g.chr16:27225037C>T	G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen							3.359301	KEEP	7	2	-1	37	49	7	2	-1	17.157882	37	49	0.095238	1	0	0	0	0	0	0	1	0	--	--		0	T			JMJD5_uc010vcn.1_Silent_p.G248G|JMJD5_uc010bxw.2_Intron|JMJD5_uc010bxx.2_5'Flank	133	GBM-14-0781-TP	p.G210G	C	TCCTGAAAGGCGTGGCTGACC	NM_024773	NP_079049	27225037	Q8N371	KDM8_HUMAN	0			3	812	+	T	T			Silent	210						
KDR	3791	broad.mit.edu	GRCh37	4	55968556	55968556	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0125-01	TCGA-06-0125-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263923.4:c.2107del	p.Asp703IlefsTer6	p.D703Ifs*6	ENST00000263923	NM_002253.2	703	Gat/at	0			1			-	D/X	uc003has.2	protein_coding	YES	CCDS3497.1			2107/4071	Mis				NSCLC|angiosarcoma				lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	c.(2107-2109)GATfs			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF45,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)			ENSP00000263923		14/30									COSM2149359	14/30	.	Familial_Infantile_Hemangioma	ENST00000263923	Transcript	1		angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	ENSG00000128052	g.chr4:55968556delC	6307			HIGH								--	--	1				TSP Lung(20;0.16)																														KDR_uc003hat.1_Frame_Shift_Del_p.D703fs	1	1			p.D703fs	NM_002253	NP_002244			1	VGFR2_HUMAN	KDR	HGNC	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		B4DEK3_HUMAN		14	2409	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		UPI000003AE04	703			Ig-like C2-type 7.|Extracellular (Potential).		deletion	KDR,frameshift_variant,p.Asp703IlefsTer6,ENST00000263923,NM_002253.2;KDR,downstream_gene_variant,,ENST00000512566,;	uc003has.2	c.2107delG	2403/5831	5	5			c.2107delG	Mis				NSCLC|angiosarcoma	4	DEL	c.(2107-2109)GATfs	50	50			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	Broad	kinase insert domain receptor precursor		Sorafenib(DB00398)|Sunitinib(DB01268)	55968556	Familial_Infantile_Hemangioma	0.433	ENSG00000128052	8001	g.chr4:55968556delC	angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			1022			1022														0.44	1	1	0	1	0	0	0	0	0	--	--	TSP Lung(20;0.16)	0	-			KDR_uc003hat.1_Frame_Shift_Del_p.D703fs	12	GBM-06-0125-TP	p.D703fs	C	GTCTCATTATCTTTAAACCAC	NM_002253	NP_002244	55968556	P35968	VGFR2_HUMAN	0	Epithelial(7;0.189)		14	2409	-	-	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Frame_Shift_Del	703			Ig-like C2-type 7.|Extracellular (Potential).			
KDR	3791	broad.mit.edu	GRCh37	4	55958819	55958819	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0128-01	TCGA-06-0128-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263923.4:c.3034G>A	p.Val1012Met	p.V1012M	ENST00000263923	NM_002253.2	1012	Gtg/Atg	0			1			T	V/M	uc003has.2	protein_coding	YES	CCDS3497.1			3034/4071	Mis				NSCLC|angiosarcoma				lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	c.(3034-3036)GTG>ATG			Gene3D:1.10.510.10,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF45,SMART_domains:SM00219,Superfamily_domains:SSF56112	kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)			ENSP00000263923		22/30									COSM3409372	22/30	.	Familial_Infantile_Hemangioma	ENST00000263923	Transcript	1		angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	ENSG00000128052	g.chr4:55958819C>T	6307			MODERATE		1.825	low	getma.org/?cm=msa&ty=f&p=VGFR2_HUMAN&rb=834&re=1160&var=V1012M	getma.org/pdb.php?prot=VGFR2_HUMAN&from=834&to=1160&var=V1012M	getma.org/?cm=var&var=hg19,4,55958819,C,T&fts=all	V1012M	--	--	1				TSP Lung(20;0.16)																														KDR_uc003hat.1_Missense_Mutation_p.V1012M	1	1		probably_damaging(1)	p.V1012M	NM_002253	NP_002244		deleterious(0)	1	VGFR2_HUMAN	KDR	HGNC	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		B4DEK3_HUMAN		22	3336	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		UPI000003AE04	1012			Protein kinase.|Cytoplasmic (Potential).		SNV	KDR,missense_variant,p.Val1012Met,ENST00000263923,NM_002253.2;RP11-530I17.1,downstream_gene_variant,,ENST00000511222,;KDR,downstream_gene_variant,,ENST00000509309,;	uc003has.2	c.3034G>A	3330/5831	2	2			c.3034G>A	Mis				NSCLC|angiosarcoma	4	SNP	c.(3034-3036)GTG>ATG	39	39			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	Broad	kinase insert domain receptor precursor		Sorafenib(DB00398)|Sunitinib(DB01268)	55958819	Familial_Infantile_Hemangioma	0.463	ENSG00000128052	8001	g.chr4:55958819C>T	angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			1022			1022	-10.585528	KEEP	6	1	-1	59	79	6	1	-1	15.330455	59	79	0.056	1	0	0	0	0	1	0	0	0	--	--	TSP Lung(20;0.16)	0	T			KDR_uc003hat.1_Missense_Mutation_p.V1012M	14	GBM-06-0128-TP	p.V1012M	C	CCCTTAGCCACTTGGAAGCTG	NM_002253	NP_002244	55958819	P35968	VGFR2_HUMAN	0	Epithelial(7;0.189)		22	3336	-	T	T	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Missense_Mutation	1012			Protein kinase.|Cytoplasmic (Potential).			
KDR	3791	broad.mit.edu	GRCh37	4	55976857	55976857	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs151317075	byFrequency	TCGA-06-0188-01	TCGA-06-0188-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263923.4:c.1055C>T	p.Ala352Val	p.A352V	ENST00000263923	NM_002253.2	352	gCg/gTg	0	A:0.005	A:0.0061	1	A:0		A	A/V	uc003has.2	protein_coding	YES	CCDS3497.1			1055/4071	Mis				NSCLC|angiosarcoma	not_provided		p.A352V(1)	lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	c.(1054-1056)GCG>GTG			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF45,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)	A:0	A:0	ENSP00000263923	A:0	30-Aug	0.000527	0.00551	0.00026			1.50E-05		0.000182	rs151317075,COSM42900	30-Aug	common_variant	Familial_Infantile_Hemangioma	ENST00000263923	Transcript	1	A:0.0016	angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	ENSG00000128052	g.chr4:55976857G>A	6307			MODERATE		-0.71	neutral	getma.org/?cm=msa&ty=f&p=VGFR2_HUMAN&rb=334&re=417&var=A352V	getma.org/pdb.php?prot=VGFR2_HUMAN&from=334&to=417&var=A352V	getma.org/?cm=var&var=hg19,4,55976857,G,A&fts=all	A352V	--	--	1				TSP Lung(20;0.16)																														KDR_uc003hat.1_Missense_Mutation_p.A352V|KDR_uc011bzx.1_Missense_Mutation_p.A352V	1,1	1		benign(0.001)	p.A352V	NM_002253	NP_002244	A:0	tolerated(1)	0,1	VGFR2_HUMAN	KDR	HGNC	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		B4DEK3_HUMAN		8	1357	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		UPI000003AE04	352			Ig-like C2-type 4.|Extracellular (Potential).		SNV	KDR,missense_variant,p.Ala352Val,ENST00000263923,NM_002253.2;KDR,non_coding_transcript_exon_variant,,ENST00000512566,;	uc003has.2	c.1055C>T	1351/5831	2	2			c.1055C>T	Mis				NSCLC|angiosarcoma	4	SNP	c.(1054-1056)GCG>GTG	25	25		p.A352V(1)	lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	Broad	kinase insert domain receptor precursor		Sorafenib(DB00398)|Sunitinib(DB01268)	55976857	Familial_Infantile_Hemangioma	0.413	ENSG00000128052	8001	g.chr4:55976857G>A	angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity		p.A352V(SCABER-Tumor)	1022		p.A352V(SCABER-Tumor)	1022	147.742256	KEEP	39	31	-1	74	89	39	31	-1	155.599269	74	89	0.286458	1	0	0	0	0	1	0	0	0	--	--	TSP Lung(20;0.16)	0	A			KDR_uc003hat.1_Missense_Mutation_p.A352V|KDR_uc011bzx.1_Missense_Mutation_p.A352V	41	GBM-06-0188-TP	p.A352V	G	AAGGTACTTCGCAGGGATTCT	NM_002253	NP_002244	55976857	P35968	VGFR2_HUMAN	0	Epithelial(7;0.189)		8	1357	-	A	A	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Missense_Mutation	352			Ig-like C2-type 4.|Extracellular (Potential).			
KDR	3791	broad.mit.edu	GRCh37	4	55984940	55984940	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0882-01	TCGA-06-0882-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263923.4:c.189G>A	p.Trp63Ter	p.W63*	ENST00000263923	NM_002253.2	63	tgG/tgA	0			1			T	W/*	uc003has.2	protein_coding	YES	CCDS3497.1			189/4071	Mis				NSCLC|angiosarcoma				lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	c.(187-189)TGG>TGA			Gene3D:2.60.40.10,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF45,SMART_domains:SM00409	kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)			ENSP00000263923		30-Mar									COSM2152379	30-Mar	.	Familial_Infantile_Hemangioma	ENST00000263923	Transcript	1		angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	ENSG00000128052	g.chr4:55984940C>T	6307			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,4,55984940,C,T&fts=all	W63*	--	--	1				TSP Lung(20;0.16)																														KDR_uc003hat.1_Nonsense_Mutation_p.W63*|KDR_uc011bzx.1_Nonsense_Mutation_p.W63*	1	1			p.W63*	NM_002253	NP_002244			1	VGFR2_HUMAN	KDR	HGNC	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		B4DEK3_HUMAN		3	491	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		UPI000003AE04	63			Ig-like C2-type 1.|Extracellular (Potential).		SNV	KDR,stop_gained,p.Trp63Ter,ENST00000263923,NM_002253.2;KDR,non_coding_transcript_exon_variant,,ENST00000512566,;	uc003has.2	c.189G>A	485/5831	5	2			c.189G>A	Mis				NSCLC|angiosarcoma	4	SNP	c.(187-189)TGG>TGA	24	24			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	Broad	kinase insert domain receptor precursor		Sorafenib(DB00398)|Sunitinib(DB01268)	55984940	Familial_Infantile_Hemangioma	0.448	ENSG00000128052	8001	g.chr4:55984940C>T	angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			1022			1022	39.764139	KEEP	11	12	-1	35	38	11	12	-1	44.307362	35	38	0.231884	1	0	0	0	0	0	1	0	0	--	--	TSP Lung(20;0.16)	0	T			KDR_uc003hat.1_Nonsense_Mutation_p.W63*|KDR_uc011bzx.1_Nonsense_Mutation_p.W63*	77	GBM-06-0882-TP	p.W63*	C	GATTATTGGGCCAAAGCCAGT	NM_002253	NP_002244	55984940	P35968	VGFR2_HUMAN	0	Epithelial(7;0.189)		3	491	-	T	T	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Nonsense_Mutation	63			Ig-like C2-type 1.|Extracellular (Potential).			
KDR	0	broad.mit.edu	GRCh37	4	55956221	55956221	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6282-01	TCGA-76-6282-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263923.4:c.3094C>T	p.Arg1032Ter	p.R1032*	ENST00000263923	NM_002253.2	1032	Cga/Tga	0			1			A	R/*	uc003has.2	protein_coding	YES	CCDS3497.1			3094/4071	Mis				NSCLC|angiosarcoma				lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	c.(3094-3096)CGA>TGA			Gene3D:1.10.510.10,Pfam_domain:PF07714,PROSITE_patterns:PS00109,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF45,SMART_domains:SM00219,Superfamily_domains:SSF56112	kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)			ENSP00000263923		23/30									rs767542615,COSM1131108	23/30	.	Familial_Infantile_Hemangioma	ENST00000263923	Transcript	1		angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	ENSG00000128052	g.chr4:55956221G>A	6307			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,4,55956221,G,A&fts=all	R1032*	--	--	1				TSP Lung(20;0.16)																														KDR_uc003hat.1_Nonsense_Mutation_p.R1032*	0,1	1			p.R1032*	NM_002253	NP_002244			0,1	VGFR2_HUMAN	KDR	HGNC	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		B4DEK3_HUMAN		23	3396	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		UPI000003AE04	1032			Protein kinase.|Cytoplasmic (Potential).		SNV	KDR,stop_gained,p.Arg1032Ter,ENST00000263923,NM_002253.2;RP11-530I17.1,intron_variant,,ENST00000511222,;KDR,downstream_gene_variant,,ENST00000509309,;	uc003has.2	c.3094C>T	3390/5831	5	2			c.3094C>T	Mis				NSCLC|angiosarcoma	4	SNP	c.(3094-3096)CGA>TGA	44	44			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	Broad	kinase insert domain receptor precursor		Sorafenib(DB00398)|Sunitinib(DB01268)	55956221	Familial_Infantile_Hemangioma	0.448	ENSG00000128052	8001	g.chr4:55956221G>A	angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			1022			1022	61.832308	KEEP	12	19	-1	39	37	12	19	-1	66.320002	39	37	0.268817	1	0	0	0	0	0	1	0	0	--	--	TSP Lung(20;0.16)	0	A			KDR_uc003hat.1_Nonsense_Mutation_p.R1032*	278	GBM-76-6282-TP	p.R1032*	G	AGGATATTTCGTGCCGCCAGG	NM_002253	NP_002244	55956221	P35968	VGFR2_HUMAN	0	Epithelial(7;0.189)		23	3396	-	A	A	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Nonsense_Mutation	1032			Protein kinase.|Cytoplasmic (Potential).			
KDR	0	broad.mit.edu	GRCh37	4	55946311	55946311	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs66480054		TCGA-81-5910-01	TCGA-81-5910-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263923.4:c.3868A>C	p.Ser1290Arg	p.S1290R	ENST00000263923	NM_002253.2	1290	Agc/Cgc	0			1			G	S/R	uc003has.2	protein_coding	YES	CCDS3497.1			3868/4071	Mis				NSCLC|angiosarcoma				lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	c.(3868-3870)AGC>CGC				kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)			ENSP00000263923		30/30									COSM3409369	30/30	.	Familial_Infantile_Hemangioma	ENST00000263923	Transcript	1		angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	ENSG00000128052	g.chr4:55946311T>G	6307			MODERATE		2.08	medium	getma.org/?cm=msa&ty=f&p=VGFR2_HUMAN&rb=1202&re=1333&var=S1290R	NA	getma.org/?cm=var&var=hg19,4,55946311,T,G&fts=all	S1290R	--	--	1				TSP Lung(20;0.16)																														KDR_uc003hat.1_Missense_Mutation_p.S1290R	1	1		probably_damaging(0.999)	p.S1290R	NM_002253	NP_002244		deleterious(0.03)	1	VGFR2_HUMAN	KDR	HGNC	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		B4DEK3_HUMAN		30	4170	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		UPI000003AE04	1290			Cytoplasmic (Potential).		SNV	KDR,missense_variant,p.Ser1290Arg,ENST00000263923,NM_002253.2;RP11-530I17.1,intron_variant,,ENST00000511222,;	uc003has.2	c.3868A>C	4164/5831	4	4			c.3868A>C	Mis				NSCLC|angiosarcoma	4	SNP	c.(3868-3870)AGC>CGC	26	26			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	Broad	kinase insert domain receptor precursor		Sorafenib(DB00398)|Sunitinib(DB01268)	55946311	Familial_Infantile_Hemangioma	0.507	ENSG00000128052	8001	g.chr4:55946311T>G	angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			1022			1022	97.460491	KEEP	12	18	-1	21	23	12	18	-1	97.980662	21	23	0.408451	1	0	0	0	0	1	0	0	0	--	--	TSP Lung(20;0.16)	0	G			KDR_uc003hat.1_Missense_Mutation_p.S1290R	289	GBM-81-5910-TP	p.S1290R	T	GACTCCCTGCTTTTGCTGGGC	NM_002253	NP_002244	55946311	P35968	VGFR2_HUMAN	0	Epithelial(7;0.189)		30	4170	-	G	G	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Missense_Mutation	1290			Cytoplasmic (Potential).			
KDR	3791		GRCh37	4	55955885	55955885	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000263923.4:c.3277G>A	p.Val1093Ile	p.V1093I	ENST00000263923	NM_002253.2	1093	Gtt/Att	0																																																																																																																																																																																																																																												
KEL	3792	broad.mit.edu	GRCh37	7	142655026	142655026	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0152-01	TCGA-06-0152-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355265.2:c.560C>A	p.Ser187Tyr	p.S187Y	ENST00000355265	NM_000420.2	187	tCc/tAc	0			1			T	S/Y	uc003wcb.2	protein_coding	YES	CCDS34766.1			560/2199									ovary(3)|central_nervous_system(1)	4	c.(559-561)TCC>TAC			hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF101,Pfam_domain:PF05649,Gene3D:1r1hA02,Superfamily_domains:SSF55486	Kell blood group, metallo-endopeptidase				ENSP00000347409		19-Jun									COSM2149883	19-Jun	.		ENST00000355265	Transcript	1		proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	ENSG00000197993	g.chr7:142655026G>T	6308			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=KELL_HUMAN&rb=100&re=482&var=S187Y	getma.org/pdb.php?prot=KELL_HUMAN&from=100&to=482&var=S187Y	getma.org/?cm=var&var=hg19,7,142655026,G,T&fts=all	S187Y	--	--	1																																			1	1		benign(0.02)	p.S187Y	NM_000420	NP_000411		tolerated(0.26)	1	KELL_HUMAN	KEL	HGNC	P23276	KELL_HUMAN			Q0KH97_HUMAN,Q0KH93_HUMAN,Q0KH89_HUMAN,Q0KH87_HUMAN,Q0KH86_HUMAN,Q0KH85_HUMAN,Q0KH84_HUMAN,Q0KH83_HUMAN,Q09GN6_HUMAN,Q06AK5_HUMAN,E7ETW3_HUMAN,A8YPS5_HUMAN,A3F6J8_HUMAN		6	770	-	Melanoma(164;0.059)		UPI000000D923	187			Extracellular (Potential).		SNV	KEL,missense_variant,p.Ser187Tyr,ENST00000355265,NM_000420.2;KEL,missense_variant,p.Ser168Tyr,ENST00000467543,;KEL,intron_variant,,ENST00000476829,;KEL,downstream_gene_variant,,ENST00000460479,;KEL,non_coding_transcript_exon_variant,,ENST00000479768,;KEL,non_coding_transcript_exon_variant,,ENST00000494148,;	uc003wcb.2	c.560C>A	1035/2812	1	1			c.560C>A						7	SNP	c.(559-561)TCC>TAC	7	7			ovary(3)|central_nervous_system(1)	4	Broad	Kell blood group, metallo-endopeptidase			142655026		0.517	ENSG00000197993	8004	g.chr7:142655026G>T	proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding							77.016457	KEEP	16	16	0.5	25	36	16	16	0.5	78.640781	25	36	0.352941	1	0	0	0	0	1	0	0	0	--	--		0	T				25	GBM-06-0152-TP	p.S187Y	G	AAAGTTTAAGGAAGTCCATTT	NM_000420	NP_000411	142655026	P23276	KELL_HUMAN	0			6	770	-	T	T	Melanoma(164;0.059)		Missense_Mutation	187			Extracellular (Potential).			
KEL	3792	broad.mit.edu	GRCh37	7	142658446	142658446	+	splice_donor_variant	Splice_Site	SNP	C	C	T			TCGA-06-0192-01	TCGA-06-0192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355265.2:c.223+1G>A		p.X75_splice	ENST00000355265	NM_000420.2	75		0	T:0,T:0		1			T		uc003wcb.2	protein_coding	YES	CCDS34766.1			223/2199									ovary(3)|central_nervous_system(1)	4	c.e3+1				Kell blood group, metallo-endopeptidase			T:0.0001,T:0.0001	ENSP00000347409			8.24E-05		8.67E-05		0.000152	0.000106		6.07E-05	rs369569464,BGMUT_423,COSM2150674		.		ENST00000355265	Transcript	1		proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	ENSG00000197993	g.chr7:142658446C>T	6308			HIGH	18-Mar							--	--	1																																			0,0,1	1			p.R75_splice	NM_000420	NP_000411			0,0,1	KELL_HUMAN	KEL	HGNC	P23276	KELL_HUMAN			Q0KH97_HUMAN,Q0KH93_HUMAN,Q0KH89_HUMAN,Q0KH87_HUMAN,Q0KH86_HUMAN,Q0KH85_HUMAN,Q0KH84_HUMAN,Q0KH83_HUMAN,Q09GN6_HUMAN,Q06AK5_HUMAN,E7ETW3_HUMAN,A8YPS5_HUMAN,A3F6J8_HUMAN		3	433	-	Melanoma(164;0.059)		UPI000000D923						SNV	KEL,splice_donor_variant,,ENST00000355265,NM_000420.2;KEL,splice_donor_variant,,ENST00000467543,;KEL,splice_donor_variant,,ENST00000476829,;KEL,splice_donor_variant,,ENST00000460479,;KEL,splice_donor_variant,,ENST00000479768,;KEL,upstream_gene_variant,,ENST00000494148,;	uc003wcb.2	c.223_splice	-/2812	5	2			c.223_splice						7	SNP	c.e3+1	17	17			ovary(3)|central_nervous_system(1)	4	Broad	Kell blood group, metallo-endopeptidase			142658446		0.602	ENSG00000197993	8004	g.chr7:142658446C>T	proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding							75.26165	KEEP	21	13	-1	74	46	21	13	-1	84.492425	74	46	0.227941	1	0	0	0	0	0	0	0	1	--	--		0	T				44	GBM-06-0192-TP	p.R75_splice	C	ATCTTGCTTACGAGGGCCACA	NM_000420	NP_000411	142658446	P23276	KELL_HUMAN	0			3	433	-	T	T	Melanoma(164;0.059)		Splice_Site							
KEL	3792	broad.mit.edu	GRCh37	7	142639989	142639989	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0646-01	TCGA-06-0646-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355265.2:c.1914C>T	p.Asp638=	p.D638=	ENST00000355265	NM_000420.2	638	gaC/gaT	0	A:0		1			A	D	uc003wcb.2	protein_coding	YES	CCDS34766.1			1914/2199									ovary(3)|central_nervous_system(1)	4	c.(1912-1914)GAC>GAT			hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF101,Pfam_domain:PF01431,Superfamily_domains:SSF55486,Prints_domain:PR00786	Kell blood group, metallo-endopeptidase			A:0.0001	ENSP00000347409		17/19	6.59E-05		8.64E-05			0.000105			rs367661434,COSM2151305	17/19	.		ENST00000355265	Transcript	1		proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	ENSG00000197993	g.chr7:142639989G>A	6308			LOW								--	--	1																																			0,1	1			p.D638D	NM_000420	NP_000411			0,1	KELL_HUMAN	KEL	HGNC	P23276	KELL_HUMAN			Q0KH97_HUMAN,Q0KH93_HUMAN,Q0KH89_HUMAN,Q0KH87_HUMAN,Q0KH86_HUMAN,Q0KH85_HUMAN,Q0KH84_HUMAN,Q0KH83_HUMAN,Q09GN6_HUMAN,Q06AK5_HUMAN,E7ETW3_HUMAN,A8YPS5_HUMAN,A3F6J8_HUMAN		17	2124	-	Melanoma(164;0.059)		UPI000000D923	638			Extracellular (Potential).	Proton donor (By similarity).	SNV	KEL,synonymous_variant,p.=,ENST00000355265,NM_000420.2;C7orf34,downstream_gene_variant,,ENST00000409607,NM_178829.4;C7orf34,downstream_gene_variant,,ENST00000458732,;KEL,downstream_gene_variant,,ENST00000479768,;KEL,non_coding_transcript_exon_variant,,ENST00000470850,;KEL,non_coding_transcript_exon_variant,,ENST00000478969,;KEL,downstream_gene_variant,,ENST00000465697,;	uc003wcb.2	c.1914C>T	2389/2812	2	2			c.1914C>T						7	SNP	c.(1912-1914)GAC>GAT	48	48			ovary(3)|central_nervous_system(1)	4	Broad	Kell blood group, metallo-endopeptidase			142639989		0.502	ENSG00000197993	8004	g.chr7:142639989G>A	proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding							341.107738	KEEP	76	67	-1	141	141	76	67	-1	348.67986	141	141	0.34375	1	0	0	0	0	0	0	1	0	--	--		0	A				60	GBM-06-0646-TP	p.D638D	G	GCCCCCCAACGTCTGCAGCAT	NM_000420	NP_000411	142639989	P23276	KELL_HUMAN	0			17	2124	-	A	A	Melanoma(164;0.059)		Silent	638			Extracellular (Potential).	Proton donor (By similarity).		
KEL	3792	broad.mit.edu	GRCh37	7	142649600	142649600	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0879-01	TCGA-06-0879-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355265.2:c.1199C>A	p.Pro400His	p.P400H	ENST00000355265	NM_000420.2	400	cCc/cAc	0			1			T	P/H	uc003wcb.2	protein_coding	YES	CCDS34766.1			1199/2199									ovary(3)|central_nervous_system(1)	4	c.(1198-1200)CCC>CAC			hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF101,Pfam_domain:PF05649,Gene3D:1r1hA02,Superfamily_domains:SSF55486	Kell blood group, metallo-endopeptidase				ENSP00000347409		19-Oct									rs767483672,COSM2152307	19-Oct	.		ENST00000355265	Transcript	1		proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	ENSG00000197993	g.chr7:142649600G>T	6308			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=KELL_HUMAN&rb=100&re=482&var=P400H	getma.org/pdb.php?prot=KELL_HUMAN&from=100&to=482&var=P400H	getma.org/?cm=var&var=hg19,7,142649600,G,T&fts=all	P400H	--	--	1																																			0,1	1		probably_damaging(0.976)	p.P400H	NM_000420	NP_000411		tolerated(0.18)	0,1	KELL_HUMAN	KEL	HGNC	P23276	KELL_HUMAN			Q0KH97_HUMAN,Q0KH93_HUMAN,Q0KH89_HUMAN,Q0KH87_HUMAN,Q0KH86_HUMAN,Q0KH85_HUMAN,Q0KH84_HUMAN,Q0KH83_HUMAN,Q09GN6_HUMAN,Q06AK5_HUMAN,E7ETW3_HUMAN,A8YPS5_HUMAN,A3F6J8_HUMAN		10	1409	-	Melanoma(164;0.059)		UPI000000D923	400			Extracellular (Potential).		SNV	KEL,missense_variant,p.Pro400His,ENST00000355265,NM_000420.2;KEL,downstream_gene_variant,,ENST00000476829,;KEL,non_coding_transcript_exon_variant,,ENST00000479768,;KEL,downstream_gene_variant,,ENST00000494148,;	uc003wcb.2	c.1199C>A	1674/2812	1	1			c.1199C>A						7	SNP	c.(1198-1200)CCC>CAC	11	11			ovary(3)|central_nervous_system(1)	4	Broad	Kell blood group, metallo-endopeptidase			142649600		0.552	ENSG00000197993	8004	g.chr7:142649600G>T	proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding							122.016458	KEEP	26	29	0.472727273	86	100	26	29	0.472727273	135.403272	86	100	0.238318	1	0	0	0	0	1	0	0	0	--	--		0	T				75	GBM-06-0879-TP	p.P400H	G	CCTCACCATGGGTGGTTGCTC	NM_000420	NP_000411	142649600	P23276	KELL_HUMAN	0			10	1409	-	T	T	Melanoma(164;0.059)		Missense_Mutation	400			Extracellular (Potential).			
KEL	3792	broad.mit.edu	GRCh37	7	142658027	142658027	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2558-01	TCGA-06-2558-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355265.2:c.388C>T	p.Arg130Trp	p.R130W	ENST00000355265	NM_000420.2	130	Cgg/Tgg	0		A:0	1	A:0		A	R/W	uc003wcb.2	protein_coding	YES	CCDS34766.1			388/2199									ovary(3)|central_nervous_system(1)	4	c.(388-390)CGG>TGG			hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF101,Pfam_domain:PF05649,Gene3D:1r1hA02,Superfamily_domains:SSF55486	Kell blood group, metallo-endopeptidase		A:0.002		ENSP00000347409	A:0	19-Apr	0.00028		8.64E-05	0.00196		4.50E-05		0.000787	rs184131044,COSM1086659	19-Apr	common_variant		ENST00000355265	Transcript	1	A:0.0008	proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	ENSG00000197993	g.chr7:142658027G>A	6308			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=KELL_HUMAN&rb=100&re=482&var=R130W	getma.org/pdb.php?prot=KELL_HUMAN&from=100&to=482&var=R130W	getma.org/?cm=var&var=hg19,7,142658027,G,A&fts=all	R130W	--	--	1																																			0,1	1		benign(0.075)	p.R130W	NM_000420	NP_000411	A:0.002	tolerated(0.16)	0,1	KELL_HUMAN	KEL	HGNC	P23276	KELL_HUMAN			Q0KH97_HUMAN,Q0KH93_HUMAN,Q0KH89_HUMAN,Q0KH87_HUMAN,Q0KH86_HUMAN,Q0KH85_HUMAN,Q0KH84_HUMAN,Q0KH83_HUMAN,Q09GN6_HUMAN,Q06AK5_HUMAN,E7ETW3_HUMAN,A8YPS5_HUMAN,A3F6J8_HUMAN		4	598	-	Melanoma(164;0.059)		UPI000000D923	130			Extracellular (Potential).		SNV	KEL,missense_variant,p.Arg130Trp,ENST00000355265,NM_000420.2;KEL,missense_variant,p.Arg111Trp,ENST00000467543,;KEL,missense_variant,p.Arg130Trp,ENST00000476829,;KEL,missense_variant,p.Arg141Trp,ENST00000460479,;KEL,non_coding_transcript_exon_variant,,ENST00000479768,;KEL,upstream_gene_variant,,ENST00000494148,;	uc003wcb.2	c.388C>T	863/2812	1	1			c.388C>T						7	SNP	c.(388-390)CGG>TGG	61	61			ovary(3)|central_nervous_system(1)	4	Broad	Kell blood group, metallo-endopeptidase			142658027		0.502	ENSG00000197993	8004	g.chr7:142658027G>A	proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding							-4.701562	KEEP	23	14	-1	218	251	23	14	-1	74.207431	218	251	0.078341	1	0	0	0	0	1	0	0	0	--	--		0	A				82	GBM-06-2558-TP	p.R130W	G	AGTATTCTCCGAAGTCGGTTT	NM_000420	NP_000411	142658027	P23276	KELL_HUMAN	0			4	598	-	A	A	Melanoma(164;0.059)		Missense_Mutation	130			Extracellular (Potential).			
KEL	3792	broad.mit.edu	GRCh37	7	142649696	142649696	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-2563-01	TCGA-06-2563-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355265.2:c.1103G>T	p.Gly368Val	p.G368V	ENST00000355265	NM_000420.2	368	gGg/gTg	0			1			A	G/V	uc003wcb.2	protein_coding	YES	CCDS34766.1			1103/2199									ovary(3)|central_nervous_system(1)	4	c.(1102-1104)GGG>GTG			hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF101,Pfam_domain:PF05649,Gene3D:1r1hA02,Superfamily_domains:SSF55486	Kell blood group, metallo-endopeptidase				ENSP00000347409		19-Oct									COSM2152852	19-Oct	.		ENST00000355265	Transcript	1		proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	ENSG00000197993	g.chr7:142649696C>A	6308			MODERATE		2.08	medium	getma.org/?cm=msa&ty=f&p=KELL_HUMAN&rb=100&re=482&var=G368V	getma.org/pdb.php?prot=KELL_HUMAN&from=100&to=482&var=G368V	getma.org/?cm=var&var=hg19,7,142649696,C,A&fts=all	G368V	--	--	1																																			1	1		probably_damaging(0.992)	p.G368V	NM_000420	NP_000411		deleterious(0.01)	1	KELL_HUMAN	KEL	HGNC	P23276	KELL_HUMAN			Q0KH97_HUMAN,Q0KH93_HUMAN,Q0KH89_HUMAN,Q0KH87_HUMAN,Q0KH86_HUMAN,Q0KH85_HUMAN,Q0KH84_HUMAN,Q0KH83_HUMAN,Q09GN6_HUMAN,Q06AK5_HUMAN,E7ETW3_HUMAN,A8YPS5_HUMAN,A3F6J8_HUMAN		10	1313	-	Melanoma(164;0.059)		UPI000000D923	368			Extracellular (Potential).		SNV	KEL,missense_variant,p.Gly368Val,ENST00000355265,NM_000420.2;KEL,downstream_gene_variant,,ENST00000476829,;KEL,non_coding_transcript_exon_variant,,ENST00000479768,;KEL,downstream_gene_variant,,ENST00000494148,;	uc003wcb.2	c.1103G>T	1578/2812	1	1			c.1103G>T						7	SNP	c.(1102-1104)GGG>GTG	59	59			ovary(3)|central_nervous_system(1)	4	Broad	Kell blood group, metallo-endopeptidase			142649696		0.537	ENSG00000197993	8004	g.chr7:142649696C>A	proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding							117.989679	KEEP	22	24	0.52173913	42	39	22	24	0.52173913	119.901479	42	39	0.362069	1	0	0	0	0	1	0	0	0	--	--		0	A				86	GBM-06-2563-TP	p.G368V	C	CACCACCAGCCCTAAGATCAT	NM_000420	NP_000411	142649696	P23276	KELL_HUMAN	0			10	1313	-	A	A	Melanoma(164;0.059)		Missense_Mutation	368			Extracellular (Potential).			
KEL	3792	broad.mit.edu	GRCh37	7	142651272	142651272	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-5408-01	TCGA-06-5408-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355265.2:c.923A>G	p.Lys308Arg	p.K308R	ENST00000355265	NM_000420.2	308	aAg/aGg	0			1			C	K/R	uc003wcb.2	protein_coding	YES	CCDS34766.1			923/2199									ovary(3)|central_nervous_system(1)	4	c.(922-924)AAG>AGG			hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF101,Pfam_domain:PF05649,Gene3D:1r1hA02,Superfamily_domains:SSF55486	Kell blood group, metallo-endopeptidase				ENSP00000347409		19-Aug									COSM3411706	19-Aug	.		ENST00000355265	Transcript	1		proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	ENSG00000197993	g.chr7:142651272T>C	6308			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=KELL_HUMAN&rb=100&re=482&var=K308R	getma.org/pdb.php?prot=KELL_HUMAN&from=100&to=482&var=K308R	getma.org/?cm=var&var=hg19,7,142651272,T,C&fts=all	K308R	--	--	1																																			1	1		benign(0.103)	p.K308R	NM_000420	NP_000411		deleterious(0.02)	1	KELL_HUMAN	KEL	HGNC	P23276	KELL_HUMAN			Q0KH97_HUMAN,Q0KH93_HUMAN,Q0KH89_HUMAN,Q0KH87_HUMAN,Q0KH86_HUMAN,Q0KH85_HUMAN,Q0KH84_HUMAN,Q0KH83_HUMAN,Q09GN6_HUMAN,Q06AK5_HUMAN,E7ETW3_HUMAN,A8YPS5_HUMAN,A3F6J8_HUMAN		8	1133	-	Melanoma(164;0.059)		UPI000000D923	308			Extracellular (Potential).		SNV	KEL,missense_variant,p.Lys308Arg,ENST00000355265,NM_000420.2;KEL,downstream_gene_variant,,ENST00000467543,;KEL,downstream_gene_variant,,ENST00000476829,;KEL,downstream_gene_variant,,ENST00000460479,;KEL,splice_region_variant,,ENST00000479768,;KEL,downstream_gene_variant,,ENST00000494148,;	uc003wcb.2	c.923A>G	1398/2812	3	3			c.923A>G						7	SNP	c.(922-924)AAG>AGG	55	55			ovary(3)|central_nervous_system(1)	4	Broad	Kell blood group, metallo-endopeptidase			142651272		0.547	ENSG00000197993	8004	g.chr7:142651272T>C	proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding							77.812057	KEEP	14	12	-1	19	22	14	12	-1	78.527815	19	22	0.383333	1	0	0	0	0	1	0	0	0	--	--		0	C				92	GBM-06-5408-TP	p.K308R	T	TCCAGGCACCTTGAGCTGGTC	NM_000420	NP_000411	142651272	P23276	KELL_HUMAN	0			8	1133	-	C	C	Melanoma(164;0.059)		Missense_Mutation	308			Extracellular (Potential).			
KEL	3792	broad.mit.edu	GRCh37	7	142658590	142658590	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C			TCGA-06-5414-01	TCGA-06-5414-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355265.2:c.82-2A>G		p.X28_splice	ENST00000355265	NM_000420.2	28		0			1			C		uc003wcb.2	protein_coding	YES	CCDS34766.1			82/2199									ovary(3)|central_nervous_system(1)	4	c.e3-1				Kell blood group, metallo-endopeptidase				ENSP00000347409											COSM3411707		.		ENST00000355265	Transcript	1		proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	ENSG00000197993	g.chr7:142658590T>C	6308			HIGH	18-Feb							--	--	1																																			1	1			p.S28_splice	NM_000420	NP_000411			1	KELL_HUMAN	KEL	HGNC	P23276	KELL_HUMAN			Q0KH97_HUMAN,Q0KH93_HUMAN,Q0KH89_HUMAN,Q0KH87_HUMAN,Q0KH86_HUMAN,Q0KH85_HUMAN,Q0KH84_HUMAN,Q0KH83_HUMAN,Q09GN6_HUMAN,Q06AK5_HUMAN,E7ETW3_HUMAN,A8YPS5_HUMAN,A3F6J8_HUMAN		3	292	-	Melanoma(164;0.059)		UPI000000D923						SNV	KEL,splice_acceptor_variant,,ENST00000355265,NM_000420.2;KEL,splice_acceptor_variant,,ENST00000467543,;KEL,splice_acceptor_variant,,ENST00000476829,;KEL,splice_acceptor_variant,,ENST00000460479,;KEL,splice_acceptor_variant,,ENST00000479768,;KEL,upstream_gene_variant,,ENST00000494148,;	uc003wcb.2	c.82_splice	-/2812	5	3			c.82_splice						7	SNP	c.e3-1	1	1			ovary(3)|central_nervous_system(1)	4	Broad	Kell blood group, metallo-endopeptidase			142658590		0.552	ENSG00000197993	8004	g.chr7:142658590T>C	proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding							7.519829	KEEP	0	4	-1	6	10	0	4	-1	8.032226	6	10	0.272727	1	0	0	0	0	0	0	0	1	--	--		0	C				97	GBM-06-5414-TP	p.S28_splice	T	TGGAGTGCTCTGTGGGAGGAA	NM_000420	NP_000411	142658590	P23276	KELL_HUMAN	0			3	292	-	C	C	Melanoma(164;0.059)		Splice_Site							
KEL	3792	broad.mit.edu	GRCh37	7	142658446	142658446	+	splice_donor_variant	Splice_Site	SNP	C	C	T			TCGA-06-5415-01	TCGA-06-5415-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355265.2:c.223+1G>A		p.X75_splice	ENST00000355265	NM_000420.2	75		0	T:0,T:0		1			T		uc003wcb.2	protein_coding	YES	CCDS34766.1			223/2199									ovary(3)|central_nervous_system(1)	4	c.e3+1				Kell blood group, metallo-endopeptidase			T:0.0001,T:0.0001	ENSP00000347409			8.24E-05		8.67E-05		0.000152	0.000106		6.07E-05	rs369569464,BGMUT_423,COSM2150674		.		ENST00000355265	Transcript	1		proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	ENSG00000197993	g.chr7:142658446C>T	6308			HIGH	18-Mar							--	--	1																																			0,0,1	1			p.R75_splice	NM_000420	NP_000411			0,0,1	KELL_HUMAN	KEL	HGNC	P23276	KELL_HUMAN			Q0KH97_HUMAN,Q0KH93_HUMAN,Q0KH89_HUMAN,Q0KH87_HUMAN,Q0KH86_HUMAN,Q0KH85_HUMAN,Q0KH84_HUMAN,Q0KH83_HUMAN,Q09GN6_HUMAN,Q06AK5_HUMAN,E7ETW3_HUMAN,A8YPS5_HUMAN,A3F6J8_HUMAN		3	433	-	Melanoma(164;0.059)		UPI000000D923						SNV	KEL,splice_donor_variant,,ENST00000355265,NM_000420.2;KEL,splice_donor_variant,,ENST00000467543,;KEL,splice_donor_variant,,ENST00000476829,;KEL,splice_donor_variant,,ENST00000460479,;KEL,splice_donor_variant,,ENST00000479768,;KEL,upstream_gene_variant,,ENST00000494148,;	uc003wcb.2	c.223_splice	-/2812	5	2			c.223_splice						7	SNP	c.e3+1	17	17			ovary(3)|central_nervous_system(1)	4	Broad	Kell blood group, metallo-endopeptidase			142658446		0.602	ENSG00000197993	8004	g.chr7:142658446C>T	proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding							85.290577	KEEP	14	22	-1	54	38	14	22	-1	89.884037	54	38	0.285714	1	0	0	0	0	0	0	0	1	--	--		0	T				98	GBM-06-5415-TP	p.R75_splice	C	ATCTTGCTTACGAGGGCCACA	NM_000420	NP_000411	142658446	P23276	KELL_HUMAN	0			3	433	-	T	T	Melanoma(164;0.059)		Splice_Site							
KEL	0	broad.mit.edu	GRCh37	7	142638355	142638355	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355265.2:c.2183G>A	p.Arg728His	p.R728H	ENST00000355265	NM_000420.2	728	cGc/cAc	0		T:0	1	T:0		T	R/H	uc003wcb.2	protein_coding	YES	CCDS34766.1			2183/2199									ovary(3)|central_nervous_system(1)	4	c.(2182-2184)CGC>CAC			hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF101,Pfam_domain:PF01431,Superfamily_domains:SSF55486	Kell blood group, metallo-endopeptidase		T:0.001		ENSP00000347409	T:0	19/19	5.77E-05	0.000193		0.000116		6.00E-05			rs201835469,COSM3411704	19/19	.		ENST00000355265	Transcript	1	T:0.0002	proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	ENSG00000197993	g.chr7:142638355C>T	6308			MODERATE		2.14	medium	getma.org/?cm=msa&ty=f&p=KELL_HUMAN&rb=540&re=731&var=R728H	getma.org/pdb.php?prot=KELL_HUMAN&from=540&to=731&var=R728H	getma.org/?cm=var&var=hg19,7,142638355,C,T&fts=all	R728H	--	--	1																																			0,1	1		benign(0.081)	p.R728H	NM_000420	NP_000411	T:0	tolerated(0.29)	0,1	KELL_HUMAN	KEL	HGNC	P23276	KELL_HUMAN			Q0KH97_HUMAN,Q0KH93_HUMAN,Q0KH89_HUMAN,Q0KH87_HUMAN,Q0KH86_HUMAN,Q0KH85_HUMAN,Q0KH84_HUMAN,Q0KH83_HUMAN,Q09GN6_HUMAN,Q06AK5_HUMAN,E7ETW3_HUMAN,A8YPS5_HUMAN,A3F6J8_HUMAN		19	2393	-	Melanoma(164;0.059)		UPI000000D923	728			Extracellular (Potential).		SNV	KEL,missense_variant,p.Arg728His,ENST00000355265,NM_000420.2;C7orf34,downstream_gene_variant,,ENST00000409607,NM_178829.4;C7orf34,downstream_gene_variant,,ENST00000458732,;KEL,downstream_gene_variant,,ENST00000479768,;KEL,downstream_gene_variant,,ENST00000470850,;KEL,downstream_gene_variant,,ENST00000465697,;KEL,downstream_gene_variant,,ENST00000478969,;	uc003wcb.2	c.2183G>A	2658/2812	1	1			c.2183G>A						7	SNP	c.(2182-2184)CGC>CAC	6	6			ovary(3)|central_nervous_system(1)	4	Broad	Kell blood group, metallo-endopeptidase			142638355		0.567	ENSG00000197993	8004	g.chr7:142638355C>T	proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding							61.090896	KEEP	29	34	-1	73	94	29	34	-1	69.910738	73	94	0.229008	1	0	0	0	0	1	0	0	0	--	--		0	T				131	GBM-12-5301-TP	p.R728H	C	GAGCTGGCAGCGGCTGGAGGG	NM_000420	NP_000411	142638355	P23276	KELL_HUMAN	0			19	2393	-	T	T	Melanoma(164;0.059)		Missense_Mutation	728			Extracellular (Potential).			
KEL	0	broad.mit.edu	GRCh37	7	142650951	142650951	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355265.2:c.1017C>T	p.Asp339=	p.D339=	ENST00000355265	NM_000420.2	339	gaC/gaT	0			1			A	D	uc003wcb.2	protein_coding	YES	CCDS34766.1			1017/2199									ovary(3)|central_nervous_system(1)	4	c.(1015-1017)GAC>GAT			hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF101,Pfam_domain:PF05649,Gene3D:1r1hA02,Superfamily_domains:SSF55486	Kell blood group, metallo-endopeptidase				ENSP00000347409		19-Sep	1.65E-05		8.64E-05			1.50E-05			rs779130548,COSM3411705	19-Sep	.		ENST00000355265	Transcript	1		proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	ENSG00000197993	g.chr7:142650951G>A	6308			LOW								--	--	1																																			0,1	1			p.D339D	NM_000420	NP_000411			0,1	KELL_HUMAN	KEL	HGNC	P23276	KELL_HUMAN			Q0KH97_HUMAN,Q0KH93_HUMAN,Q0KH89_HUMAN,Q0KH87_HUMAN,Q0KH86_HUMAN,Q0KH85_HUMAN,Q0KH84_HUMAN,Q0KH83_HUMAN,Q09GN6_HUMAN,Q06AK5_HUMAN,E7ETW3_HUMAN,A8YPS5_HUMAN,A3F6J8_HUMAN		9	1227	-	Melanoma(164;0.059)		UPI000000D923	339			Extracellular (Potential).		SNV	KEL,synonymous_variant,p.=,ENST00000355265,NM_000420.2;KEL,downstream_gene_variant,,ENST00000467543,;KEL,downstream_gene_variant,,ENST00000476829,;KEL,downstream_gene_variant,,ENST00000460479,;KEL,non_coding_transcript_exon_variant,,ENST00000479768,;KEL,downstream_gene_variant,,ENST00000494148,;	uc003wcb.2	c.1017C>T	1492/2812	2	2			c.1017C>T						7	SNP	c.(1015-1017)GAC>GAT	28	28			ovary(3)|central_nervous_system(1)	4	Broad	Kell blood group, metallo-endopeptidase			142650951		0.537	ENSG00000197993	8004	g.chr7:142650951G>A	proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding							277.763441	KEEP	61	64	-1	232	224	61	64	-1	317.130431	232	224	0.222022	1	0	0	0	0	0	0	1	0	--	--		0	A				232	GBM-32-1982-TP	p.D339D	G	AATATTCCACGTCATGGACCA	NM_000420	NP_000411	142650951	P23276	KELL_HUMAN	0			9	1227	-	A	A	Melanoma(164;0.059)		Silent	339			Extracellular (Potential).			
KEL	0	broad.mit.edu	GRCh37	7	142639595	142639595	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01	TCGA-41-2572-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355265.2:c.1963C>T	p.Arg655Trp	p.R655W	ENST00000355265	NM_000420.2	655	Cgg/Tgg	0	A:0.0002		1			A	R/W	uc003wcb.2	protein_coding	YES	CCDS34766.1			1963/2199									ovary(3)|central_nervous_system(1)	4	c.(1963-1965)CGG>TGG			hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF101,Pfam_domain:PF01431,Superfamily_domains:SSF55486	Kell blood group, metallo-endopeptidase			A:0	ENSP00000347409		18/19	5.77E-05	0.000143	0.00016	0.000335		7.49E-05			rs370938244,COSM299681	18/19	.		ENST00000355265	Transcript	1		proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	ENSG00000197993	g.chr7:142639595G>A	6308			MODERATE		0.98	low	getma.org/?cm=msa&ty=f&p=KELL_HUMAN&rb=540&re=731&var=R655W	getma.org/pdb.php?prot=KELL_HUMAN&from=540&to=731&var=R655W	getma.org/?cm=var&var=hg19,7,142639595,G,A&fts=all	R655W	--	--	1																																			0,1	1		benign(0.001)	p.R655W	NM_000420	NP_000411		tolerated(0.17)	0,1	KELL_HUMAN	KEL	HGNC	P23276	KELL_HUMAN			Q0KH97_HUMAN,Q0KH93_HUMAN,Q0KH89_HUMAN,Q0KH87_HUMAN,Q0KH86_HUMAN,Q0KH85_HUMAN,Q0KH84_HUMAN,Q0KH83_HUMAN,Q09GN6_HUMAN,Q06AK5_HUMAN,E7ETW3_HUMAN,A8YPS5_HUMAN,A3F6J8_HUMAN		18	2173	-	Melanoma(164;0.059)		UPI000000D923	655			Extracellular (Potential).		SNV	KEL,missense_variant,p.Arg655Trp,ENST00000355265,NM_000420.2;C7orf34,downstream_gene_variant,,ENST00000409607,NM_178829.4;C7orf34,downstream_gene_variant,,ENST00000458732,;KEL,downstream_gene_variant,,ENST00000479768,;KEL,non_coding_transcript_exon_variant,,ENST00000470850,;KEL,non_coding_transcript_exon_variant,,ENST00000478969,;KEL,downstream_gene_variant,,ENST00000465697,;	uc003wcb.2	c.1963C>T	2438/2812	2	2			c.1963C>T						7	SNP	c.(1963-1965)CGG>TGG	30	30			ovary(3)|central_nervous_system(1)	4	Broad	Kell blood group, metallo-endopeptidase			142639595		0.597	ENSG00000197993	8004	g.chr7:142639595G>A	proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding							5.079398	KEEP	2	5	-1	15	19	2	5	-1	9.23362	15	19	0.129032	1	0	0	0	0	1	0	0	0	--	--		0	A				251	GBM-41-2572-TP	p.R655W	G	CCATGGTGCCGTAACAGCCTC	NM_000420	NP_000411	142639595	P23276	KELL_HUMAN	0			18	2173	-	A	A	Melanoma(164;0.059)		Missense_Mutation	655			Extracellular (Potential).			
KEL	0	broad.mit.edu	GRCh37	7	142658027	142658027	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4929-01	TCGA-76-4929-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355265.2:c.388C>T	p.Arg130Trp	p.R130W	ENST00000355265	NM_000420.2	130	Cgg/Tgg	0		A:0	1	A:0		A	R/W	uc003wcb.2	protein_coding	YES	CCDS34766.1			388/2199									ovary(3)|central_nervous_system(1)	4	c.(388-390)CGG>TGG			hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF101,Pfam_domain:PF05649,Gene3D:1r1hA02,Superfamily_domains:SSF55486	Kell blood group, metallo-endopeptidase		A:0.002		ENSP00000347409	A:0	19-Apr	0.00028		8.64E-05	0.00196		4.50E-05		0.000787	rs184131044,COSM1086659	19-Apr	common_variant		ENST00000355265	Transcript	1	A:0.0008	proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	ENSG00000197993	g.chr7:142658027G>A	6308			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=KELL_HUMAN&rb=100&re=482&var=R130W	getma.org/pdb.php?prot=KELL_HUMAN&from=100&to=482&var=R130W	getma.org/?cm=var&var=hg19,7,142658027,G,A&fts=all	R130W	--	--	1																																			0,1	1		benign(0.075)	p.R130W	NM_000420	NP_000411	A:0.002	tolerated(0.16)	0,1	KELL_HUMAN	KEL	HGNC	P23276	KELL_HUMAN			Q0KH97_HUMAN,Q0KH93_HUMAN,Q0KH89_HUMAN,Q0KH87_HUMAN,Q0KH86_HUMAN,Q0KH85_HUMAN,Q0KH84_HUMAN,Q0KH83_HUMAN,Q09GN6_HUMAN,Q06AK5_HUMAN,E7ETW3_HUMAN,A8YPS5_HUMAN,A3F6J8_HUMAN		4	598	-	Melanoma(164;0.059)		UPI000000D923	130			Extracellular (Potential).		SNV	KEL,missense_variant,p.Arg130Trp,ENST00000355265,NM_000420.2;KEL,missense_variant,p.Arg111Trp,ENST00000467543,;KEL,missense_variant,p.Arg130Trp,ENST00000476829,;KEL,missense_variant,p.Arg141Trp,ENST00000460479,;KEL,non_coding_transcript_exon_variant,,ENST00000479768,;KEL,upstream_gene_variant,,ENST00000494148,;	uc003wcb.2	c.388C>T	863/2812	1	1			c.388C>T						7	SNP	c.(388-390)CGG>TGG	61	61			ovary(3)|central_nervous_system(1)	4	Broad	Kell blood group, metallo-endopeptidase			142658027		0.502	ENSG00000197993	8004	g.chr7:142658027G>A	proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding							291.075908	KEEP	60	57	-1	114	128	60	57	-1	299.808251	114	128	0.322684	1	0	0	0	0	1	0	0	0	--	--		0	A				269	GBM-76-4929-TP	p.R130W	G	AGTATTCTCCGAAGTCGGTTT	NM_000420	NP_000411	142658027	P23276	KELL_HUMAN	0			4	598	-	A	A	Melanoma(164;0.059)		Missense_Mutation	130			Extracellular (Potential).			
KHDC3L	0	broad.mit.edu	GRCh37	6	74073368	74073368	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370367.3:c.439C>T	p.Arg147Cys	p.R147C	ENST00000370367	NM_001017361.2	147	Cgt/Tgt	0			1			T	R/C	uc003pgt.3	protein_coding	YES	CCDS34484.1			439/654									skin(2)	2	c.(439-441)CGT>TGT			hmmpanther:PTHR19447:SF5,hmmpanther:PTHR19447	hypothetical protein LOC154288				ENSP00000359392		3-Mar									COSM3411270	3-Mar	.		ENST00000370367	Transcript	1					ENSG00000203908	g.chr6:74073368C>T	33699			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=ECAT1_HUMAN&rb=121&re=216&var=R147C	NA	getma.org/?cm=var&var=hg19,6,74073368,C,T&fts=all	R147C	--	--	1																																			1	1		possibly_damaging(0.894)	p.R147C	NM_001017361	NP_001017361		tolerated(0.06)	1	KHD3L_HUMAN	KHDC3L	HGNC	Q587J8	ECAT1_HUMAN					3	492	+			UPI00001D8131	147					SNV	KHDC3L,missense_variant,p.Arg147Cys,ENST00000370367,NM_001017361.2;OOEP,downstream_gene_variant,,ENST00000370363,;	uc003pgt.3	c.439C>T	492/1018	2	2			c.439C>T						6	SNP	c.(439-441)CGT>TGT	38	38			skin(2)	2	Broad	hypothetical protein LOC154288			74073368		0.667	ENSG00000203908	2307	g.chr6:74073368C>T										90.215038	KEEP	19	23	-1	52	27	19	23	-1	92.535396	52	27	0.345455	1	0	0	0	0	1	0	0	0	--	--		0	T				131	GBM-12-5301-TP	p.R147C	C	CGGGACGCAGCGTTCGGTGGA	NM_001017361	NP_001017361	74073368	Q587J8	ECAT1_HUMAN	0			3	492	+	T	T			Missense_Mutation	147						
KHDC3L	154288		GRCh37	6	74073351	74073351	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000370367.3:c.422G>A	p.Arg141Gln	p.R141Q	ENST00000370367	NM_001017361.2	141	cGg/cAg	0																																																																																																																																																																																																																																												
KHDRBS2	202559	broad.mit.edu	GRCh37	6	62604709	62604709	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281156.4:c.641C>T	p.Pro214Leu	p.P214L	ENST00000281156	NM_152688.2	214	cCa/cTa	0			1			A	P/L	uc003peg.2	protein_coding	YES	CCDS4963.1			641/1050									skin(7)|ovary(3)|liver(1)	11	c.(640-642)CCA>CTA			Low_complexity_(Seg):seg,hmmpanther:PTHR11208,hmmpanther:PTHR11208:SF34	KH domain-containing, RNA-binding, signal				ENSP00000281156		9-Jun	2.47E-05		0.000176		0.000155				rs778333402,COSM2149925	9-Jun	.		ENST00000281156	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	ENSG00000112232	g.chr6:62604709G>A	18114			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=KHDR2_HUMAN&rb=141&re=271&var=P214L	NA	getma.org/?cm=var&var=hg19,6,62604709,G,A&fts=all	P214L	--	--	1																																			0,1	1		benign(0.001)	p.P214L	NM_152688	NP_689901		tolerated(0.32)	0,1	KHDR2_HUMAN	KHDRBS2	HGNC	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)			6	888	-			UPI000004D256	214			Pro-rich.		SNV	KHDRBS2,missense_variant,p.Pro214Leu,ENST00000281156,NM_152688.2;	uc003peg.2	c.641C>T	920/2332	1	1			c.641C>T						6	SNP	c.(640-642)CCA>CTA	57	57			skin(7)|ovary(3)|liver(1)	11	Broad	KH domain-containing, RNA-binding, signal			62604709		0.557	ENSG00000112232	8008	g.chr6:62604709G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding							73.652689	KEEP	12	16	-1	34	25	12	16	-1	75.373402	34	25	0.337838	1	0	0	0	0	1	0	0	0	--	--		0	A				26	GBM-06-0154-TP	p.P214L	G	TCCAGGTGGTGGGGGAGGAGG	NM_152688	NP_689901	62604709	Q5VWX1	KHDR2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(397;0.149)	6	888	-	A	A			Missense_Mutation	214			Pro-rich.			
KHDRBS2	0	broad.mit.edu	GRCh37	6	62604661	62604661	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01	TCGA-06-6695-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281156.4:c.689G>A	p.Arg230His	p.R230H	ENST00000281156	NM_152688.2	230	cGt/cAt	0	T:0	T:0	1	T:0		T	R/H	uc003peg.2	protein_coding	YES	CCDS4963.1			689/1050									skin(7)|ovary(3)|liver(1)	11	c.(688-690)CGT>CAT			hmmpanther:PTHR11208,hmmpanther:PTHR11208:SF34	KH domain-containing, RNA-binding, signal		T:0.001	T:0.0001	ENSP00000281156	T:0	9-Jun	0.000107		8.73E-05			4.55E-05		0.000547	rs374827571,COSM3411235	9-Jun	common_variant		ENST00000281156	Transcript		T:0.0002	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	ENSG00000112232	g.chr6:62604661C>T	18114			MODERATE		2.165	medium	getma.org/?cm=msa&ty=f&p=KHDR2_HUMAN&rb=141&re=271&var=R230H	NA	getma.org/?cm=var&var=hg19,6,62604661,C,T&fts=all	R230H	--	--	1																																			0,1	1		benign(0.006)	p.R230H	NM_152688	NP_689901	T:0	tolerated(0.16)	0,1	KHDR2_HUMAN	KHDRBS2	HGNC	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)			6	936	-			UPI000004D256	230			Pro-rich.		SNV	KHDRBS2,missense_variant,p.Arg230His,ENST00000281156,NM_152688.2;	uc003peg.2	c.689G>A	968/2332	1	1			c.689G>A						6	SNP	c.(688-690)CGT>CAT	7	7			skin(7)|ovary(3)|liver(1)	11	Broad	KH domain-containing, RNA-binding, signal			62604661		0.627	ENSG00000112232	8008	g.chr6:62604661C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding							64.392106	KEEP	14	11	-1	20	12	14	11	-1	64.585778	20	12	0.436364	1	0	0	0	0	1	0	0	0	--	--		0	T				110	GBM-06-6695-TP	p.R230H	C	AAGCGCTCCACGGGTTACAGT	NM_152688	NP_689901	62604661	Q5VWX1	KHDR2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(397;0.149)	6	936	-	T	T			Missense_Mutation	230			Pro-rich.			
KHDRBS2	0	broad.mit.edu	GRCh37	6	62611257	62611257	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01	TCGA-19-2631-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281156.4:c.503G>A	p.Arg168His	p.R168H	ENST00000281156	NM_152688.2	168	cGt/cAt	0			1			T	R/H	uc003peg.2	protein_coding	YES	CCDS4963.1			503/1050									skin(7)|ovary(3)|liver(1)	11	c.(502-504)CGT>CAT			hmmpanther:PTHR11208,hmmpanther:PTHR11208:SF34,Gene3D:3.30.1370.10,Superfamily_domains:SSF54791	KH domain-containing, RNA-binding, signal				ENSP00000281156		9-May	1.65E-05					3.00E-05			rs747090449,COSM3411236	9-May	.		ENST00000281156	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	ENSG00000112232	g.chr6:62611257C>T	18114			MODERATE		1.645	low	getma.org/?cm=msa&ty=f&p=KHDR2_HUMAN&rb=141&re=271&var=R168H	NA	getma.org/?cm=var&var=hg19,6,62611257,C,T&fts=all	R168H	--	--	1																																			0,1	1		probably_damaging(0.981)	p.R168H	NM_152688	NP_689901		tolerated(0.17)	0,1	KHDR2_HUMAN	KHDRBS2	HGNC	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)			5	750	-			UPI000004D256	168					SNV	KHDRBS2,missense_variant,p.Arg168His,ENST00000281156,NM_152688.2;	uc003peg.2	c.503G>A	782/2332	2	2			c.503G>A						6	SNP	c.(502-504)CGT>CAT	20	20			skin(7)|ovary(3)|liver(1)	11	Broad	KH domain-containing, RNA-binding, signal			62611257		0.403	ENSG00000112232	8008	g.chr6:62611257C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding							-14.290764	KEEP	5	2	-1	61	88	5	2	-1	15.223141	61	88	0.050725	1	0	0	0	0	1	0	0	0	--	--		0	T				167	GBM-19-2631-TP	p.R168H	C	TTGTTCCTGACGAATTTCATC	NM_152688	NP_689901	62611257	Q5VWX1	KHDR2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(397;0.149)	5	750	-	T	T			Missense_Mutation	168						
KHDRBS2	0	broad.mit.edu	GRCh37	6	62407128	62407128	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-26-6174-01	TCGA-26-6174-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281156.4:c.924A>G	p.Gly308=	p.G308=	ENST00000281156	NM_152688.2	308	ggA/ggG	0			1			C	G	uc003peg.2	protein_coding	YES	CCDS4963.1			924/1050									skin(7)|ovary(3)|liver(1)	11	c.(922-924)GGA>GGG			hmmpanther:PTHR11208,hmmpanther:PTHR11208:SF34	KH domain-containing, RNA-binding, signal				ENSP00000281156		9-Aug									COSM3411234	9-Aug	.		ENST00000281156	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	ENSG00000112232	g.chr6:62407128T>C	18114			LOW								--	--	1																																			1	1			p.G308G	NM_152688	NP_689901			1	KHDR2_HUMAN	KHDRBS2	HGNC	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)			8	1171	-			UPI000004D256	308					SNV	KHDRBS2,synonymous_variant,p.=,ENST00000281156,NM_152688.2;	uc003peg.2	c.924A>G	1203/2332	3	3			c.924A>G						6	SNP	c.(922-924)GGA>GGG	5	5			skin(7)|ovary(3)|liver(1)	11	Broad	KH domain-containing, RNA-binding, signal			62407128		0.378	ENSG00000112232	8008	g.chr6:62407128T>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding							40.759769	KEEP	6	7	-1	13	19	6	7	-1	42.117177	13	19	0.309524	1	0	0	0	0	0	0	1	0	--	--		0	C				188	GBM-26-6174-TP	p.G308G	T	CCTCACTTACTCCATGACCGT	NM_152688	NP_689901	62407128	Q5VWX1	KHDR2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(397;0.149)	8	1171	-	C	C			Silent	308						
KHNYN	0	broad.mit.edu	GRCh37	14	24901649	24901649	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-32-2495-01	TCGA-32-2495-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251343.5:c.1182G>C	p.Arg394=	p.R394=	ENST00000251343		394	cgG/cgC	0			1			C	R	uc001wph.3	protein_coding	YES	CCDS32058.1			1182/2037									ovary(2)|liver(1)	3	c.(1180-1182)CGG>CGC			hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF28	hypothetical protein LOC23351				ENSP00000251343		8-Mar									COSM3401270	8-Mar	.		ENST00000251343	Transcript						ENSG00000100441	g.chr14:24901649G>C	20166			LOW								--	--	1																																OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	KHNYN_uc010tpc.1_Silent_p.R435R|KHNYN_uc010alw.2_Silent_p.R394R|CBLN3_uc001wpg.3_5'Flank	1	1			p.R394R	NM_015299	NP_056114			1	KHNYN_HUMAN	KHNYN	HGNC	O15037	KHNYN_HUMAN			G3V3G3_HUMAN,G3V331_HUMAN		3	1384	+			UPI000000CC1F	394					SNV	KHNYN,synonymous_variant,p.=,ENST00000251343,;KHNYN,synonymous_variant,p.=,ENST00000553935,NM_015299.2;KHNYN,synonymous_variant,p.=,ENST00000556842,;CBLN3,upstream_gene_variant,,ENST00000267406,NM_001039771.2;KHNYN,downstream_gene_variant,,ENST00000556510,;KHNYN,upstream_gene_variant,,ENST00000554268,;CBLN3,upstream_gene_variant,,ENST00000555436,;KHNYN,upstream_gene_variant,,ENST00000556255,;	uc001wph.3	c.1182G>C	1321/6225	3	3			c.1182G>C						14	SNP	c.(1180-1182)CGG>CGC	6	6			ovary(2)|liver(1)	3	Broad	hypothetical protein LOC23351			24901649		0.667	ENSG00000100441	8011	g.chr14:24901649G>C										-9.535605	KEEP	5	0	-1	38	38	5	0	-1	6.720085	38	38	0.041667	1	0	0	0	0	0	0	1	0	--	--		0	C	OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	KHNYN_uc010tpc.1_Silent_p.R435R|KHNYN_uc010alw.2_Silent_p.R394R|CBLN3_uc001wpg.3_5'Flank	237	GBM-32-2495-TP	p.R394R	G	GCATGGCACGGGGTCGGGGGC	NM_015299	NP_056114	24901649	O15037	KHNYN_HUMAN	0			3	1384	+	C	C			Silent	394						
KHSRP	0	broad.mit.edu	GRCh37	19	6416419	6416419	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A			TCGA-14-1450-01	TCGA-14-1450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398148.3:c.1489-1G>T		p.X497_splice	ENST00000398148	NM_003685.2			0			1			A		uc002mer.3	protein_coding	YES	CCDS45936.1			1489/2136									skin(1)	1	c.e15-1				KH-type splicing regulatory protein				ENSP00000381216											COSM3404740		.		ENST00000398148	Transcript			mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding	ENSG00000088247	g.chr19:6416419C>A	6316			HIGH	14/19							--	--	1																																			1	1			p.G497_splice	NM_003685	NP_003676			1	FUBP2_HUMAN	KHSRP	HGNC	Q92945	FUBP2_HUMAN			M0QYH3_HUMAN,M0QXW7_HUMAN		15	1599	-			UPI000049DE96						SNV	KHSRP,splice_acceptor_variant,,ENST00000398148,NM_003685.2;KHSRP,splice_acceptor_variant,,ENST00000595223,;KHSRP,upstream_gene_variant,,ENST00000594496,;KHSRP,upstream_gene_variant,,ENST00000600480,;KHSRP,downstream_gene_variant,,ENST00000599395,;KHSRP,downstream_gene_variant,,ENST00000595548,;KHSRP,downstream_gene_variant,,ENST00000595258,;KHSRP,upstream_gene_variant,,ENST00000594745,;KHSRP,upstream_gene_variant,,ENST00000597656,;CTB-180A7.8,downstream_gene_variant,,ENST00000398173,;CTB-180A7.8,downstream_gene_variant,,ENST00000596254,;CTB-180A7.8,downstream_gene_variant,,ENST00000593563,;MIR3940,downstream_gene_variant,,ENST00000579148,;KHSRP,downstream_gene_variant,,ENST00000595112,;KHSRP,downstream_gene_variant,,ENST00000597704,;KHSRP,upstream_gene_variant,,ENST00000599642,;	uc002mer.3	c.1489_splice	-/2993	5	2			c.1489_splice						19	SNP	c.e15-1	32	32			skin(1)	1	Broad	KH-type splicing regulatory protein			6416419		0.637	ENSG00000088247	8012	g.chr19:6416419C>A	mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding	Colon(55;593 1006 2067 9135 22980)			Colon(55;593 1006 2067 9135 22980)			5.910988	KEEP	4	4	0.5	33	17	4	4	0.5	12.998916	33	17	0.12	1	0	0	0	0	0	0	0	1	--	--		0	A				145	GBM-14-1450-TP	p.G497_splice	C	AGAGAGGACCCTAGAAGGAAG	NM_003685	NP_003676	6416419	Q92945	FUBP2_HUMAN	0			15	1599	-	A	A			Splice_Site							
KHSRP	0	broad.mit.edu	GRCh37	19	6420483	6420483	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T			TCGA-76-4927-01	TCGA-76-4927-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398148.3:c.426-1G>A		p.X142_splice	ENST00000398148	NM_003685.2			0			1			T		uc002mer.3	protein_coding	YES	CCDS45936.1			426/2136									skin(1)	1	c.e5-1				KH-type splicing regulatory protein				ENSP00000381216											COSM3404741		.		ENST00000398148	Transcript			mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding	ENSG00000088247	g.chr19:6420483C>T	6316			HIGH	19-Apr							--	--	1																																			1	1			p.R142_splice	NM_003685	NP_003676			1	FUBP2_HUMAN	KHSRP	HGNC	Q92945	FUBP2_HUMAN			M0QYH3_HUMAN,M0QXW7_HUMAN		5	536	-			UPI000049DE96						SNV	KHSRP,splice_acceptor_variant,,ENST00000398148,NM_003685.2;KHSRP,splice_acceptor_variant,,ENST00000599395,;KHSRP,splice_acceptor_variant,,ENST00000595548,;KHSRP,splice_acceptor_variant,,ENST00000595258,;KHSRP,upstream_gene_variant,,ENST00000594496,;KHSRP,upstream_gene_variant,,ENST00000595223,;KHSRP,upstream_gene_variant,,ENST00000600480,;KHSRP,upstream_gene_variant,,ENST00000594745,;MIR3940,upstream_gene_variant,,ENST00000579148,;KHSRP,splice_acceptor_variant,,ENST00000595112,;KHSRP,downstream_gene_variant,,ENST00000597704,;KHSRP,upstream_gene_variant,,ENST00000599642,;	uc002mer.3	c.426_splice	-/2993	5	2			c.426_splice						19	SNP	c.e5-1	17	17			skin(1)	1	Broad	KH-type splicing regulatory protein			6420483		0.567	ENSG00000088247	8012	g.chr19:6420483C>T	mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding	Colon(55;593 1006 2067 9135 22980)			Colon(55;593 1006 2067 9135 22980)			56.726652	KEEP	10	17	-1	35	48	10	17	-1	62.771667	35	48	0.230769	1	0	0	0	0	0	0	0	1	--	--		0	T				267	GBM-76-4927-TP	p.R142_splice	C	CATTGAAGTCCTGTAAAGAGA	NM_003685	NP_003676	6420483	Q92945	FUBP2_HUMAN	0			5	536	-	T	T			Splice_Site							
KIAA0020	0	broad.mit.edu	GRCh37	9	2829854	2829854	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs62534389		TCGA-02-0033-01	TCGA-02-0033-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397885.2:c.772G>A	p.Ala258Thr	p.A258T	ENST00000397885	NM_014878.4	258	Gca/Aca	0			1			T	A/T	uc003zhp.1	protein_coding	YES	CCDS6448.2			772/1947									ovary(1)	1	c.(772-774)GCA>ACA			Superfamily_domains:SSF48371,SMART_domains:SM00025,Gene3D:1.25.10.10,hmmpanther:PTHR13389,PROSITE_profiles:PS50303	KIAA0020 protein				ENSP00000380982		18-Aug	4.94E-05			0.000116				0.000303	rs62534389,COSM3413581	18-Aug	.		ENST00000397885	Transcript				endoplasmic reticulum|nucleolus	RNA binding	ENSG00000080608	g.chr9:2829854C>T	29676			MODERATE		2.48	medium	getma.org/?cm=msa&ty=f&p=K0020_HUMAN&rb=143&re=510&var=A258T	getma.org/pdb.php?prot=K0020_HUMAN&from=143&to=510&var=A258T	getma.org/?cm=var&var=hg19,9,2829854,C,T&fts=all	A258T	--	--	1																																		KIAA0020_uc010mhc.1_Missense_Mutation_p.A257T|KIAA0020_uc003zhq.1_Missense_Mutation_p.A257T	0,1	1		possibly_damaging(0.791)	p.A258T	NM_014878	NP_055693		deleterious(0.01)	0,1	K0020_HUMAN	KIAA0020	HGNC	Q15397	K0020_HUMAN		GBM - Glioblastoma multiforme(50;0.0319)	S4R3K8_HUMAN		8	868	-			UPI000013D67E	258			Pumilio 3.|PUM-HD.		SNV	KIAA0020,missense_variant,p.Ala258Thr,ENST00000397885,NM_014878.4;KIAA0020,non_coding_transcript_exon_variant,,ENST00000469168,;	uc003zhp.1	c.772G>A	979/2321	1	1			c.772G>A						9	SNP	c.(772-774)GCA>ACA	4	4			ovary(1)	1	Broad	KIAA0020 protein			2829854		0.458	ENSG00000080608	8013	g.chr9:2829854C>T		endoplasmic reticulum|nucleolus	RNA binding							-97.748196	KEEP	3	2	-1	204	218	3	2	-1	7.405475	204	218	0.012887	1	0	0	0	0	1	0	0	0	--	--		0	T			KIAA0020_uc010mhc.1_Missense_Mutation_p.A257T|KIAA0020_uc003zhq.1_Missense_Mutation_p.A257T	2	GBM-02-0033-TP	p.A258T	C	TCATTGTATGCGTACTCCACG	NM_014878	NP_055693	2829854	Q15397	K0020_HUMAN	0		GBM - Glioblastoma multiforme(50;0.0319)	8	868	-	T	T			Missense_Mutation	258			Pumilio 3.|PUM-HD.			
KIAA0020			GRCh37	9	2837296	2837296	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000397885.2:c.188A>G	p.Lys63Arg	p.K63R	ENST00000397885	NM_014878.4	63	aAg/aGg	0																																																																																																																																																																																																																																												
BLTP2	0	broad.mit.edu	GRCh37	17	26967617	26967617	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-27-2523-01	TCGA-27-2523-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000528896.2:c.851A>G	p.Glu284Gly	p.E284G	ENST00000528896	NM_014680.3	284	gAg/gGg	0			1			C	E/G	uc002hbu.2	protein_coding	YES	CCDS32595.1			851/6708									ovary(2)|breast(1)|skin(1)	4	c.(850-852)GAG>GGG			hmmpanther:PTHR15678,Pfam_domain:PF10344	hypothetical protein LOC9703 precursor				ENSP00000436773		Aug-39									COSM3402694,COSM3402695	Aug-39	.		ENST00000528896	Transcript				extracellular region		ENSG00000007202	g.chr17:26967617T>C	28960			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=K0100_HUMAN&rb=26&re=476&var=E284G	NA	getma.org/?cm=var&var=hg19,17,26967617,T,C&fts=all	E284G	--	--	1																																		KIAA0100_uc002hbv.2_Missense_Mutation_p.E284G|KIAA0100_uc010crr.1_Missense_Mutation_p.E141G	1,1	1		benign(0.226)	p.E284G	NM_014680	NP_055495		tolerated(0.23)	1,1	K0100_HUMAN	KIAA0100	HGNC	Q14667	K0100_HUMAN			Q08E86_HUMAN,G1UI35_HUMAN		8	950	-	Lung NSC(42;0.00431)		UPI00004B4130	284					SNV	KIAA0100,missense_variant,p.Glu284Gly,ENST00000528896,NM_014680.3;KIAA0100,missense_variant,p.Glu141Gly,ENST00000544884,;KIAA0100,missense_variant,p.Glu141Gly,ENST00000389003,;RP11-192H23.7,downstream_gene_variant,,ENST00000577814,;KIAA0100,3_prime_UTR_variant,,ENST00000583403,;KIAA0100,3_prime_UTR_variant,,ENST00000581267,;KIAA0100,non_coding_transcript_exon_variant,,ENST00000577417,;KIAA0100,non_coding_transcript_exon_variant,,ENST00000580882,;KIAA0100,non_coding_transcript_exon_variant,,ENST00000577580,;KIAA0100,non_coding_transcript_exon_variant,,ENST00000579253,;KIAA0100,downstream_gene_variant,,ENST00000582901,;	uc002hbu.2	c.851A>G	926/7407	4	4			c.851A>G						17	SNP	c.(850-852)GAG>GGG	40	40			ovary(2)|breast(1)|skin(1)	4	Broad	hypothetical protein LOC9703 precursor			26967617		0.463	ENSG00000007202	8015	g.chr17:26967617T>C		extracellular region								-31.510303	KEEP	1	2	-1	89	79	1	2	-1	6.665269	89	79	0.02027	1	0	0	0	0	1	0	0	0	--	--		0	C			KIAA0100_uc002hbv.2_Missense_Mutation_p.E284G|KIAA0100_uc010crr.1_Missense_Mutation_p.E141G	201	GBM-27-2523-TP	p.E284G	T	GCTTGTGTTCTCCATCTTAAC	NM_014680	NP_055495	26967617	Q14667	K0100_HUMAN	0			8	950	-	C	C	Lung NSC(42;0.00431)		Missense_Mutation	284						
KIAA0226			GRCh37	3	197431552	197431552	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000296343.5:c.324C>T	p.Asn108=	p.N108=	ENST00000296343	NM_014687.1	108	aaC/aaT	0																																																																																																																																																																																																																																												
KIAA0226L			GRCh37	13	46937309	46937309	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000429979.1:c.866G>A	p.Arg289His	p.R289H	ENST00000429979	NM_025113.2	289	cGt/cAt	0																																																																																																																																																																																																																																												
KIAA0232	0	broad.mit.edu	GRCh37	4	6865692	6865692	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-26-5133-01	TCGA-26-5133-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307659.5:c.3583C>T	p.Gln1195Ter	p.Q1195*	ENST00000307659	NM_014743.2	1195	Cag/Tag	0			1			T	Q/*	uc003gjr.3	protein_coding	YES	CCDS43209.1			3583/4188									ovary(2)	2	c.(3583-3585)CAG>TAG			Pfam_domain:PF15376,hmmpanther:PTHR17611	hypothetical protein LOC9778				ENSP00000303928		10-Jul									COSM2156971	10-Jul	.		ENST00000307659	Transcript					ATP binding	ENSG00000170871	g.chr4:6865692C>T	28992			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,4,6865692,C,T&fts=all	Q1195*	--	--	1																																		KIAA0232_uc003gjq.3_Nonsense_Mutation_p.Q1195*	1	1			p.Q1195*	NM_014743	NP_055558			1	K0232_HUMAN	KIAA0232	HGNC	Q92628	K0232_HUMAN			D6REK0_HUMAN		7	4046	+			UPI000013EC3F	1195					SNV	KIAA0232,stop_gained,p.Gln1195Ter,ENST00000307659,NM_014743.2;KIAA0232,stop_gained,p.Gln1195Ter,ENST00000425103,NM_001100590.1;KIAA0232,downstream_gene_variant,,ENST00000503069,;	uc003gjr.3	c.3583C>T	4038/7841	5	1			c.3583C>T						4	SNP	c.(3583-3585)CAG>TAG	1	1			ovary(2)	2	Broad	hypothetical protein LOC9778			6865692		0.408	ENSG00000170871	8024	g.chr4:6865692C>T			ATP binding							133.016709	KEEP	19	26	-1	21	27	19	26	-1	133.038907	21	27	0.483146	1	0	0	0	0	0	1	0	0	--	--		0	T			KIAA0232_uc003gjq.3_Nonsense_Mutation_p.Q1195*	182	GBM-26-5133-TP	p.Q1195*	C	ACTGGATTCCCAGGAGGAATC	NM_014743	NP_055558	6865692	Q92628	K0232_HUMAN	0			7	4046	+	T	T			Nonsense_Mutation	1195						
KIAA0319	9856	broad.mit.edu	GRCh37	6	24556864	24556864	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs137950263		TCGA-02-0003-01	TCGA-02-0003-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378214.3:c.2828G>A	p.Arg943His	p.R943H	ENST00000378214	NM_014809.3	943	cGt/cAt	0	T:0.0002		1			T	R/H	uc011djo.1	protein_coding	YES	CCDS34348.1			2828/3219									ovary(1)|skin(1)	2	c.(2827-2829)CGT>CAT			hmmpanther:PTHR10083,hmmpanther:PTHR10083:SF194	KIAA0319 precursor			T:0	ENSP00000367459		18/21	1.65E-05					1.50E-05		6.07E-05	rs137950263,COSM2148928	18/21	.		ENST00000378214	Transcript	1		negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	ENSG00000137261	g.chr6:24556864C>T	21580			MODERATE		1.95	medium	getma.org/?cm=msa&ty=f&p=K0319_HUMAN&rb=816&re=1015&var=R943H	NA	getma.org/?cm=var&var=hg19,6,24556864,C,T&fts=all	R943H	--	--	1																																		KIAA0319_uc011djp.1_Missense_Mutation_p.R898H|KIAA0319_uc003neh.1_Missense_Mutation_p.R943H|KIAA0319_uc011djq.1_Missense_Mutation_p.R934H|KIAA0319_uc011djr.1_Missense_Mutation_p.R943H|KIAA0319_uc010jpt.1_Missense_Mutation_p.R354H	0,1	1		benign(0.066)	p.R943H	NM_014809	NP_055624		tolerated(0.47)	0,1	K0319_HUMAN	KIAA0319	HGNC	Q5VV43	K0319_HUMAN					18	3065	-			UPI000020D61A	943			Extracellular (Potential).		SNV	KIAA0319,missense_variant,p.Arg934His,ENST00000535378,NM_001168374.1;KIAA0319,missense_variant,p.Arg943His,ENST00000378214,NM_014809.3,NM_001168375.1;KIAA0319,missense_variant,p.Arg943His,ENST00000537886,NM_001168377.1;KIAA0319,missense_variant,p.Arg898His,ENST00000430948,NM_001168376.1;KIAA0319,missense_variant,p.Arg943His,ENST00000543707,;	uc011djo.1	c.2828G>A	3353/6802	2	2			c.2828G>A						6	SNP	c.(2827-2829)CGT>CAT	25	25			ovary(1)|skin(1)	2	Broad	KIAA0319 precursor			24556864		0.488	ENSG00000137261	8029	g.chr6:24556864C>T	negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding							70.167615	KEEP	14	21	-1	22	45	14	21	-1	72.754239	22	45	0.318182	1	0	0	0	0	1	0	0	0	--	--		0	T			KIAA0319_uc011djp.1_Missense_Mutation_p.R898H|KIAA0319_uc003neh.1_Missense_Mutation_p.R943H|KIAA0319_uc011djq.1_Missense_Mutation_p.R934H|KIAA0319_uc011djr.1_Missense_Mutation_p.R943H|KIAA0319_uc010jpt.1_Missense_Mutation_p.R354H	1	GBM-02-0003-TP	p.R943H	C	CCAGATATAACGCTGTATAAG	NM_014809	NP_055624	24556864	Q5VV43	K0319_HUMAN	0			18	3065	-	T	T			Missense_Mutation	943			Extracellular (Potential).			
KIAA0319	0	broad.mit.edu	GRCh37	6	24563628	24563628	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-16-0846-01	TCGA-16-0846-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378214.3:c.2550G>A	p.Ser850=	p.S850=	ENST00000378214	NM_014809.3	850	tcG/tcA	0			1			T	S	uc011djo.1	protein_coding	YES	CCDS34348.1			2550/3219									ovary(1)|skin(1)	2	c.(2548-2550)TCG>TCA			hmmpanther:PTHR10083,hmmpanther:PTHR10083:SF194	KIAA0319 precursor				ENSP00000367459		16/21									COSM3410831	16/21	.		ENST00000378214	Transcript	1		negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	ENSG00000137261	g.chr6:24563628C>T	21580			LOW								--	--	1																																		KIAA0319_uc011djp.1_Silent_p.S805S|KIAA0319_uc003neh.1_Silent_p.S850S|KIAA0319_uc011djq.1_Silent_p.S841S|KIAA0319_uc011djr.1_Silent_p.S850S|KIAA0319_uc010jpt.1_Silent_p.S261S	1	1			p.S850S	NM_014809	NP_055624			1	K0319_HUMAN	KIAA0319	HGNC	Q5VV43	K0319_HUMAN					16	2787	-			UPI000020D61A	850			Extracellular (Potential).		SNV	KIAA0319,synonymous_variant,p.=,ENST00000535378,NM_001168374.1;KIAA0319,synonymous_variant,p.=,ENST00000378214,NM_014809.3,NM_001168375.1;KIAA0319,synonymous_variant,p.=,ENST00000537886,NM_001168377.1;KIAA0319,synonymous_variant,p.=,ENST00000430948,NM_001168376.1;KIAA0319,synonymous_variant,p.=,ENST00000543707,;	uc011djo.1	c.2550G>A	3075/6802	1	1			c.2550G>A						6	SNP	c.(2548-2550)TCG>TCA	5	5			ovary(1)|skin(1)	2	Broad	KIAA0319 precursor			24563628		0.587	ENSG00000137261	8029	g.chr6:24563628C>T	negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding							126.767338	KEEP	21	21	-1	20	13	21	21	-1	127.007969	20	13	0.561644	1	0	0	0	0	0	0	1	0	--	--		0	T			KIAA0319_uc011djp.1_Silent_p.S805S|KIAA0319_uc003neh.1_Silent_p.S850S|KIAA0319_uc011djq.1_Silent_p.S841S|KIAA0319_uc011djr.1_Silent_p.S850S|KIAA0319_uc010jpt.1_Silent_p.S261S	155	GBM-16-0846-TP	p.S850S	C	CCTTAATGTCCGAGTCCAGCA	NM_014809	NP_055624	24563628	Q5VV43	K0319_HUMAN	0			16	2787	-	T	T			Silent	850			Extracellular (Potential).			
KIAA0319	0	broad.mit.edu	GRCh37	6	24563608	24563608	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-2629-01	TCGA-19-2629-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378214.3:c.2570T>C	p.Ile857Thr	p.I857T	ENST00000378214	NM_014809.3	857	aTt/aCt	0			1			G	I/T	uc011djo.1	protein_coding	YES	CCDS34348.1			2570/3219									ovary(1)|skin(1)	2	c.(2569-2571)ATT>ACT			hmmpanther:PTHR10083,hmmpanther:PTHR10083:SF194	KIAA0319 precursor				ENSP00000367459		16/21									COSM3410830	16/21	.		ENST00000378214	Transcript	1		negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	ENSG00000137261	g.chr6:24563608A>G	21580			MODERATE		2.33	medium	getma.org/?cm=msa&ty=f&p=K0319_HUMAN&rb=816&re=1015&var=I857T	NA	getma.org/?cm=var&var=hg19,6,24563608,A,G&fts=all	I857T	--	--	1																																		KIAA0319_uc011djp.1_Missense_Mutation_p.I812T|KIAA0319_uc003neh.1_Missense_Mutation_p.I857T|KIAA0319_uc011djq.1_Missense_Mutation_p.I848T|KIAA0319_uc011djr.1_Missense_Mutation_p.I857T|KIAA0319_uc010jpt.1_Missense_Mutation_p.I268T	1	1		possibly_damaging(0.839)	p.I857T	NM_014809	NP_055624		deleterious(0)	1	K0319_HUMAN	KIAA0319	HGNC	Q5VV43	K0319_HUMAN					16	2807	-			UPI000020D61A	857			Extracellular (Potential).		SNV	KIAA0319,missense_variant,p.Ile848Thr,ENST00000535378,NM_001168374.1;KIAA0319,missense_variant,p.Ile857Thr,ENST00000378214,NM_014809.3,NM_001168375.1;KIAA0319,missense_variant,p.Ile857Thr,ENST00000537886,NM_001168377.1;KIAA0319,missense_variant,p.Ile812Thr,ENST00000430948,NM_001168376.1;KIAA0319,missense_variant,p.Ile857Thr,ENST00000543707,;	uc011djo.1	c.2570T>C	3095/6802	3	3			c.2570T>C						6	SNP	c.(2569-2571)ATT>ACT	9	9			ovary(1)|skin(1)	2	Broad	KIAA0319 precursor			24563608		0.567	ENSG00000137261	8029	g.chr6:24563608A>G	negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding							22.867829	KEEP	9	3	-1	30	40	9	3	-1	32.349268	30	40	0.142857	1	0	0	0	0	1	0	0	0	--	--		0	G			KIAA0319_uc011djp.1_Missense_Mutation_p.I812T|KIAA0319_uc003neh.1_Missense_Mutation_p.I857T|KIAA0319_uc011djq.1_Missense_Mutation_p.I848T|KIAA0319_uc011djr.1_Missense_Mutation_p.I857T|KIAA0319_uc010jpt.1_Missense_Mutation_p.I268T	166	GBM-19-2629-TP	p.I857T	A	GTGGGCCCGAATCTTCTGGAC	NM_014809	NP_055624	24563608	Q5VV43	K0319_HUMAN	0			16	2807	-	G	G			Missense_Mutation	857			Extracellular (Potential).			
KIAA0355	9710	broad.mit.edu	GRCh37	19	34819037	34819037	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-02-0033-01	TCGA-02-0033-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299505.6:c.1085A>G	p.Asp362Gly	p.D362G	ENST00000299505	NM_014686.3	362	gAc/gGc	0			1			G	D/G	uc002nvd.3	protein_coding	YES	CCDS12436.1			1085/3213									ovary(1)	1	c.(1084-1086)GAC>GGC			hmmpanther:PTHR15703,hmmpanther:PTHR15703:SF2	hypothetical protein LOC9710				ENSP00000299505		14-Jun									COSM2148947	14-Jun	.		ENST00000299505	Transcript						ENSG00000166398	g.chr19:34819037A>G	29016			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=K0355_HUMAN&rb=220&re=545&var=D362G	NA	getma.org/?cm=var&var=hg19,19,34819037,A,G&fts=all	D362G	--	--	1																																			1	1		possibly_damaging(0.765)	p.D362G	NM_014686	NP_055501		deleterious(0.01)	1	K0355_HUMAN	KIAA0355	HGNC	O15063	K0355_HUMAN			U3KPV0_HUMAN,K7EPA0_HUMAN		6	1944	+	Esophageal squamous(110;0.162)		UPI000013E5AD	362					SNV	KIAA0355,missense_variant,p.Asp362Gly,ENST00000299505,NM_014686.3;KIAA0355,intron_variant,,ENST00000588338,;	uc002nvd.3	c.1085A>G	1958/6717	4	4			c.1085A>G						19	SNP	c.(1084-1086)GAC>GGC	20	20			ovary(1)	1	Broad	hypothetical protein LOC9710			34819037		0.512	ENSG00000166398	8031	g.chr19:34819037A>G										42.568118	KEEP	15	6	-1	43	42	15	6	-1	48.649878	43	42	0.207792	1	0	0	0	0	1	0	0	0	--	--		0	G				2	GBM-02-0033-TP	p.D362G	A	TCGGCCGCCGACAATCTGAAA	NM_014686	NP_055501	34819037	O15063	K0355_HUMAN	0			6	1944	+	G	G	Esophageal squamous(110;0.162)		Missense_Mutation	362						
KIAA0368	0	broad.mit.edu	GRCh37	9	114188086	114188086	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259335.4:c.1607G>A	p.Gly536Asp	p.G536D	ENST00000259335	NM_001080398.1	536	gGt/gAt	0			1			T	G/D	uc004bfe.1	protein_coding					1073/5520										0	c.(1606-1608)GGT>GAT			Gene3D:1.25.10.10,Pfam_domain:PF13001,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF19,Superfamily_domains:SSF48371	KIAA0368 protein				ENSP00000339889		Oct-49									COSM2151799,COSM3413255	Oct-49	.		ENST00000338205	Transcript						ENSG00000136813	g.chr9:114188086C>T	29020			MODERATE		1.98	medium	getma.org/?cm=msa&ty=f&p=ECM29_HUMAN&rb=16&re=522&var=G364D	NA	getma.org/?cm=var&var=hg19,9,114188086,C,T&fts=all	G364D	--	--	1																																		KIAA0368_uc010muc.1_Missense_Mutation_p.G358D	1,1			probably_damaging(0.963)	p.G536D	NM_001080398	NP_001073867		deleterious(0)	1,1	ECM29_HUMAN	KIAA0368	HGNC							12	1607	-			UPI0002B83222						SNV	KIAA0368,missense_variant,p.Gly536Asp,ENST00000259335,NM_001080398.1;KIAA0368,missense_variant,p.Gly358Asp,ENST00000338205,;KIAA0368,missense_variant,p.Gly364Asp,ENST00000602447,;	uc004bfe.1	c.1607G>A	1293/7078	2	2			c.1607G>A						9	SNP	c.(1606-1608)GGT>GAT	35	35				0	Broad	KIAA0368 protein			114188086		0.249	ENSG00000136813	8032	g.chr9:114188086C>T										133.91433	KEEP	35	19	-1	28	36	35	19	-1	134.099996	28	36	0.452632	1	0	0	0	0	1	0	0	0	--	--		0	T			KIAA0368_uc010muc.1_Missense_Mutation_p.G358D	68	GBM-06-0747-TP	p.G536D	C	TGTATTTGTACCAAAAAGTCC	NM_001080398	NP_001073867	114188086			0			12	1607	-	T	T			Missense_Mutation							
KIAA0368			GRCh37	9	114145511	114145511	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000259335.4:c.4317G>A	p.Val1439=	p.V1439=	ENST00000259335	NM_001080398.1	1439	gtG/gtA	0																																																																																																																																																																																																																																												
KIAA0513	0	broad.mit.edu	GRCh37	16	85120720	85120720	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-6174-01	TCGA-26-6174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258180.3:c.1134G>A	p.Lys378=	p.K378=	ENST00000258180	NM_014732.2	378	aaG/aaA	0			1			A	K	uc002fiu.2	protein_coding		CCDS32499.1			1134/1236									breast(1)	1	c.(1132-1134)AAG>AAA			hmmpanther:PTHR13663,hmmpanther:PTHR13663:SF2	hypothetical protein LOC9764				ENSP00000258180		13-Dec									COSM3402527	13-Dec	.		ENST00000258180	Transcript				cytoplasm		ENSG00000135709	g.chr16:85120720G>A	29058			LOW								--	--	1																																OREG0023994	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	KIAA0513_uc010voj.1_Silent_p.K368K	1				p.K378K	NM_014732	NP_055547			1	K0513_HUMAN	KIAA0513	HGNC	O60268	K0513_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.234)			12	1354	+			UPI0000139A26	378					SNV	KIAA0513,synonymous_variant,p.=,ENST00000566428,NM_001286565.1;KIAA0513,synonymous_variant,p.=,ENST00000258180,NM_014732.2;KIAA0513,synonymous_variant,p.=,ENST00000538274,NM_001286566.1;KIAA0513,synonymous_variant,p.=,ENST00000562580,;KIAA0513,synonymous_variant,p.=,ENST00000562564,;KIAA0513,non_coding_transcript_exon_variant,,ENST00000562388,;	uc002fiu.2	c.1134G>A	1354/7351	2	2			c.1134G>A						16	SNP	c.(1132-1134)AAG>AAA	36	36			breast(1)	1	Broad	hypothetical protein LOC9764			85120720		0.612	ENSG00000135709	8042	g.chr16:85120720G>A		cytoplasm								42.593021	KEEP	16	5	-1	27	29	16	5	-1	46.389507	27	29	0.246154	1	0	0	0	0	0	0	1	0	--	--		0	A	OREG0023994	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	KIAA0513_uc010voj.1_Silent_p.K368K	188	GBM-26-6174-TP	p.K378K	G	TGAACAAGAAGCTGTGCAATG	NM_014732	NP_055547	85120720	O60268	K0513_HUMAN	0		BRCA - Breast invasive adenocarcinoma(80;0.234)	12	1354	+	A	A			Silent	378						
KIAA0556	23247	broad.mit.edu	GRCh37	16	27640063	27640063	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0221-01	TCGA-06-0221-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261588.4:c.222C>T	p.Asn74=	p.N74=	ENST00000261588	NM_015202.2	74	aaC/aaT	0		T:0	1	T:0		T	N	uc002dow.2	protein_coding	YES	CCDS32415.1			222/4857									ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8	c.(220-222)AAC>AAT			hmmpanther:PTHR21534,hmmpanther:PTHR21534:SF0	hypothetical protein LOC23247		T:0.001		ENSP00000261588	T:0	28-Apr	3.29E-05			0.000116		1.50E-05		0.000121	rs562885234,COSM3402227,COSM3402228	28-Apr	.		ENST00000261588	Transcript		T:0.0002				ENSG00000047578	g.chr16:27640063C>T	29068			LOW								--	--	1																																			0,1,1	1			p.N74N	NM_015202	NP_056017	T:0		0,1,1	K0556_HUMAN	KIAA0556	HGNC	O60303	K0556_HUMAN			B4DHT8_HUMAN		4	246	+			UPI000045693C	74					SNV	KIAA0556,synonymous_variant,p.=,ENST00000261588,NM_015202.2;KIAA0556,synonymous_variant,p.=,ENST00000568258,;KIAA0556,upstream_gene_variant,,ENST00000567894,;KIAA0556,missense_variant,p.Arg40Trp,ENST00000565672,;KIAA0556,non_coding_transcript_exon_variant,,ENST00000564749,;	uc002dow.2	c.222C>T	241/6616	2	2			c.222C>T						16	SNP	c.(220-222)AAC>AAT	28	28			ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8	Broad	hypothetical protein LOC23247			27640063		0.517	ENSG00000047578	8044	g.chr16:27640063C>T										-42.04497	KEEP	4	4	-1	123	113	4	4	-1	12.131521	123	113	0.031111	1	0	0	0	0	0	0	1	0	--	--		0	T				53	GBM-06-0221-TP	p.N74N	C	TCTATGTCAACGGTGCCAATT	NM_015202	NP_056017	27640063	O60303	K0556_HUMAN	0			4	246	+	T	T			Silent	74						
KIAA0556	0	broad.mit.edu	GRCh37	16	27761189	27761189	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1832-01	TCGA-27-1832-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261588.4:c.2908G>A	p.Val970Ile	p.V970I	ENST00000261588	NM_015202.2	970	Gtc/Atc	0	A:0		1			A	V/I	uc002dow.2	protein_coding	YES	CCDS32415.1			2908/4857									ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8	c.(2908-2910)GTC>ATC			Pfam_domain:PF14652,hmmpanther:PTHR21534,hmmpanther:PTHR21534:SF0	hypothetical protein LOC23247			A:0.0002	ENSP00000261588		16/28	0.000107		0.000173			0.000105		0.000243	rs374130852,COSM3109121,COSM3109122	16/28	.		ENST00000261588	Transcript						ENSG00000047578	g.chr16:27761189G>A	29068			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=K0556_HUMAN&rb=950&re=1149&var=V970I	NA	getma.org/?cm=var&var=hg19,16,27761189,G,A&fts=all	V970I	--	--	1																																			0,1,1	1		probably_damaging(0.93)	p.V970I	NM_015202	NP_056017		deleterious(0.04)	0,1,1	K0556_HUMAN	KIAA0556	HGNC	O60303	K0556_HUMAN			B4DHT8_HUMAN		16	2932	+			UPI000045693C	970					SNV	KIAA0556,missense_variant,p.Val970Ile,ENST00000261588,NM_015202.2;KIAA0556,non_coding_transcript_exon_variant,,ENST00000573850,;	uc002dow.2	c.2908G>A	2927/6616	2	2			c.2908G>A						16	SNP	c.(2908-2910)GTC>ATC	24	24			ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8	Broad	hypothetical protein LOC23247			27761189		0.557	ENSG00000047578	8044	g.chr16:27761189G>A										72.027319	KEEP	16	11	-1	19	34	16	11	-1	73.701259	19	34	0.342105	1	0	0	0	0	1	0	0	0	--	--		0	A				191	GBM-27-1832-TP	p.V970I	G	TAAAATCCCCGTCTTGCCTTA	NM_015202	NP_056017	27761189	O60303	K0556_HUMAN	0			16	2932	+	A	A			Missense_Mutation	970						
KIAA0754	23499	broad.mit.edu	GRCh37	1	39876294	39876294	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A			TCGA-06-2563-01	TCGA-06-2563-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000530275.1:c.-52G>A		p.*18*	ENST00000530275	NM_015038.1			0			1			A		uc009vvt.1	protein_coding	YES				-/3876										0	c.(355-357)CGG>CGA				hypothetical protein LOC643314				ENSP00000431179		1-Jan										1-Jan	.		ENST00000530275	Transcript						ENSG00000255103	g.chr1:39876294G>A	29111			MODIFIER								--	--	1																																		MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron		1			p.R119R	NM_015038	NP_055853				K0754_HUMAN	KIAA0754	HGNC	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)				1	1119	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	UPI0000DD78B2	Error:Variant_position_missing_in_O94854_after_alignment					SNV	KIAA0754,5_prime_UTR_variant,,ENST00000530275,NM_015038.1;MACF1,intron_variant,,ENST00000564288,;MACF1,intron_variant,,ENST00000567887,;MACF1,intron_variant,,ENST00000372915,;MACF1,intron_variant,,ENST00000289893,;MACF1,intron_variant,,ENST00000545844,;MACF1,intron_variant,,ENST00000317713,;MACF1,intron_variant,,ENST00000361689,NM_012090.5;MACF1,intron_variant,,ENST00000539005,;MACF1,intron_variant,,ENST00000372925,;MACF1,upstream_gene_variant,,ENST00000482035,;	uc009vvt.1	c.357G>A	144/6004	2	2			c.357G>A						1	SNP	c.(355-357)CGG>CGA	21	21				0	Broad	hypothetical protein LOC643314			39876294		0.478	ENSG00000255103	8053	g.chr1:39876294G>A										-38.370425	KEEP	2	2	-1	84	97	2	2	-1	7.197443	84	97	0.022346	1	0	0	0	0	0	0	1	0	--	--		0	A			MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	86	GBM-06-2563-TP	p.R119R	G	CCAGAAGGCGGCCAAATGCAG	NM_015038	NP_055853	39876294	O94854	K0754_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	1119	+	A	A	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	Silent	Error:Variant_position_missing_in_O94854_after_alignment						
KIAA0907	0	broad.mit.edu	GRCh37	1	155886422	155886423	+	frameshift_variant	Frame_Shift_Del	DEL	CT	CT	-			TCGA-06-0195-01	TCGA-06-0195-01	CT	CT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368321.3:c.1546_1547del	p.Arg516GlyfsTer21	p.R516Gfs*21	ENST00000368321	NM_014949.2	516	AGg/g	0			1			-	R/X	uc001fmi.1	protein_coding	YES	CCDS30885.1			1546-1547/1845										0	c.(1546-1548)AGGfs			hmmpanther:PTHR15744,hmmpanther:PTHR15744:SF0	hypothetical protein LOC22889				ENSP00000357304		14-Dec	0.00212	0.000292	8.67E-05	0.000233		0.000999	0.00447	0.00912	rs750586160,COSM265410	14-Dec	common_variant		ENST00000368321	Transcript						ENSG00000132680	g.chr1:155886422_155886423delCT	29145			HIGH								--	--	1																																		KIAA0907_uc001fmj.1_Frame_Shift_Del_p.R516fs|KIAA0907_uc009wrk.1_Frame_Shift_Del_p.R373fs|KIAA0907_uc009wrl.1_RNA	0,1	1			p.R516fs	NM_014949	NP_055764			0,1	K0907_HUMAN	KIAA0907	HGNC	Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)				12	1570_1571	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		UPI00001A36E0	516					deletion	KIAA0907,frameshift_variant,p.Arg516GlyfsTer21,ENST00000368320,;KIAA0907,frameshift_variant,p.Arg516GlyfsTer21,ENST00000368321,NM_014949.2;KIAA0907,downstream_gene_variant,,ENST00000368319,;SNORA42,downstream_gene_variant,,ENST00000384744,NR_002974.1;KIAA0907,non_coding_transcript_exon_variant,,ENST00000478002,;KIAA0907,non_coding_transcript_exon_variant,,ENST00000465953,;KIAA0907,non_coding_transcript_exon_variant,,ENST00000466520,;KIAA0907,downstream_gene_variant,,ENST00000482337,;KIAA0907,downstream_gene_variant,,ENST00000483237,;	uc001fmi.1	c.1546_1547delAG	1570-1571/2947	5	5			c.1546_1547delAG						1	DEL	c.(1546-1548)AGGfs	57	57				0	Broad	hypothetical protein LOC22889			155886423		0.396	ENSG00000132680	8060	g.chr1:155886422_155886423delCT																							0.02	1	1	0	1	0	0	0	0	0	--	--		0	-			KIAA0907_uc001fmj.1_Frame_Shift_Del_p.R516fs|KIAA0907_uc009wrk.1_Frame_Shift_Del_p.R373fs|KIAA0907_uc009wrl.1_RNA	45	GBM-06-0195-TP	p.R516fs	CT	TTACCTGTCCCTCTCTCTCTCT	NM_014949	NP_055764	155886422	Q7Z7F0	K0907_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		12	1570_1571	-	-	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		Frame_Shift_Del	516						
KIAA0907	0	broad.mit.edu	GRCh37	1	155887399	155887399	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-12-0821-01	TCGA-12-0821-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368321.3:c.1331A>C	p.Gln444Pro	p.Q444P	ENST00000368321	NM_014949.2	444	cAg/cCg	0			1			G	Q/P	uc001fmi.1	protein_coding	YES	CCDS30885.1			1331/1845										0	c.(1330-1332)CAG>CCG			Low_complexity_(Seg):seg,hmmpanther:PTHR15744,hmmpanther:PTHR15744:SF0	hypothetical protein LOC22889				ENSP00000357304		14-Nov	0.000557	0.000189	0.000501	0.000184	0.000282	0.000696		0.000187	rs767599205,COSM463134	14-Nov	common_variant		ENST00000368321	Transcript						ENSG00000132680	g.chr1:155887399T>G	29145			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=K0907_HUMAN&rb=336&re=535&var=Q444P	NA	getma.org/?cm=var&var=hg19,1,155887399,T,G&fts=all	Q444P	--	--	1																																		KIAA0907_uc001fmj.1_Missense_Mutation_p.Q444P|KIAA0907_uc009wrk.1_Missense_Mutation_p.Q301P|KIAA0907_uc009wrl.1_RNA	0,1	1		benign(0.001)	p.Q444P	NM_014949	NP_055764		tolerated(0.34)	0,1	K0907_HUMAN	KIAA0907	HGNC	Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)				11	1355	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		UPI00001A36E0	444			Pro-rich.		SNV	KIAA0907,missense_variant,p.Gln444Pro,ENST00000368320,;KIAA0907,missense_variant,p.Gln444Pro,ENST00000368321,NM_014949.2;KIAA0907,downstream_gene_variant,,ENST00000368319,;SNORA42,downstream_gene_variant,,ENST00000384744,NR_002974.1;KIAA0907,non_coding_transcript_exon_variant,,ENST00000478002,;KIAA0907,downstream_gene_variant,,ENST00000482337,;KIAA0907,upstream_gene_variant,,ENST00000465953,;KIAA0907,upstream_gene_variant,,ENST00000466520,;KIAA0907,downstream_gene_variant,,ENST00000483237,;	uc001fmi.1	c.1331A>C	1355/2947	3	3			c.1331A>C						1	SNP	c.(1330-1332)CAG>CCG	52	52				0	Broad	hypothetical protein LOC22889			155887399		0.443	ENSG00000132680	8060	g.chr1:155887399T>G										9.279438	KEEP	20	2	-1	69	10	20	2	-1	17.191049	69	10	0.182927	1	0	0	0	0	1	0	0	0	--	--		0	G			KIAA0907_uc001fmj.1_Missense_Mutation_p.Q444P|KIAA0907_uc009wrk.1_Missense_Mutation_p.Q301P|KIAA0907_uc009wrl.1_RNA	123	GBM-12-0821-TP	p.Q444P	T	gggctggggctggggGCCAGC	NM_014949	NP_055764	155887399	Q7Z7F0	K0907_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		11	1355	-	G	G	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		Missense_Mutation	444			Pro-rich.			
KIAA0907			GRCh37	1	155886422	155886423	+	frameshift_variant	Frame_Shift_Del	DEL	CT	CT	-			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000368321.3:c.1546_1547del	p.Arg516GlyfsTer21	p.R516Gfs*21	ENST00000368321	NM_014949.2	516	AGg/g	0																																																																																																																																																																																																																																												
KIAA0922	0	broad.mit.edu	GRCh37	4	154517485	154517485	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0130-01	TCGA-06-0130-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409959.3:c.2071G>A	p.Val691Ile	p.V691I	ENST00000409959	NM_001131007.1	691	Gta/Ata	0	A:0.0002		1			A	V/I	uc003inm.3	protein_coding		CCDS3783.2			2068/4830									upper_aerodigestive_tract(1)|ovary(1)	2	c.(2068-2070)GTA>ATA			hmmpanther:PTHR22050:SF2,hmmpanther:PTHR22050	hypothetical protein LOC23240 isoform 2			A:0	ENSP00000386574		20/35	1.65E-05	9.61E-05				1.50E-05			rs369720504,COSM2149557,COSM2149556	20/35	.		ENST00000409663	Transcript				integral to membrane		ENSG00000121210	g.chr4:154517485G>A	29146			MODERATE		2.14	medium	getma.org/?cm=msa&ty=f&p=T131L_HUMAN&rb=562&re=761&var=V690I	NA	getma.org/?cm=var&var=hg19,4,154517485,G,A&fts=all	V690I	--	--	1																																		KIAA0922_uc010ipp.2_Missense_Mutation_p.V691I|KIAA0922_uc010ipq.2_Missense_Mutation_p.V459I	0,1,1			probably_damaging(0.984)	p.V690I	NM_015196	NP_056011		deleterious(0.01)	0,1,1	T131L_HUMAN	KIAA0922	HGNC	A2VDJ0	T131L_HUMAN					20	2120	+	all_hematologic(180;0.093)	Renal(120;0.118)	UPI000170BA66	690			Extracellular (Potential).		SNV	KIAA0922,missense_variant,p.Val691Ile,ENST00000409959,NM_001131007.1;KIAA0922,missense_variant,p.Val690Ile,ENST00000409663,NM_015196.3;KIAA0922,missense_variant,p.Val607Ile,ENST00000440693,;KIAA0922,missense_variant,p.Val468Ile,ENST00000240487,;	uc003inm.3	c.2068G>A	2120/5017	2	2			c.2068G>A						4	SNP	c.(2068-2070)GTA>ATA	48	48			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	hypothetical protein LOC23240 isoform 2			154517485		0.423	ENSG00000121210	8062	g.chr4:154517485G>A		integral to membrane								101.089592	KEEP	21	26	-1	88	85	21	26	-1	117.882894	88	85	0.207547	1	0	0	0	0	1	0	0	0	--	--		0	A			KIAA0922_uc010ipp.2_Missense_Mutation_p.V691I|KIAA0922_uc010ipq.2_Missense_Mutation_p.V459I	16	GBM-06-0130-TP	p.V690I	G	AAGGGTTGGCGTAGTTTTCAC	NM_015196	NP_056011	154517485	A2VDJ0	T131L_HUMAN	0			20	2120	+	A	A	all_hematologic(180;0.093)	Renal(120;0.118)	Missense_Mutation	690			Extracellular (Potential).			
KIAA0947	0	broad.mit.edu	GRCh37	5	5464090	5464090	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0939-01	TCGA-06-0939-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296564.7:c.4643C>G	p.Pro1548Arg	p.P1548R	ENST00000296564	NM_015325.2	1548	cCa/cGa	0			1			G	P/R	uc003jdm.3	protein_coding	YES	CCDS47187.1			4643/6801									ovary(1)|central_nervous_system(1)	2	c.(4642-4644)CCA>CGA			hmmpanther:PTHR11852,hmmpanther:PTHR11852:SF3	hypothetical protein LOC23379				ENSP00000296564		13/19									COSM3410314	13/19	.		ENST00000296564	Transcript						ENSG00000164151	g.chr5:5464090C>G	29154			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=K0947_HUMAN&rb=1&re=1579&var=P1548R	NA	getma.org/?cm=var&var=hg19,5,5464090,C,G&fts=all	P1548R	--	--	1																																			1	1		probably_damaging(0.973)	p.P1548R	NM_015325	NP_056140		deleterious(0)	1	K0947_HUMAN	KIAA0947	HGNC	Q9Y2F5	K0947_HUMAN					13	4865	+			UPI00015542F9	1548					SNV	KIAA0947,missense_variant,p.Pro1548Arg,ENST00000296564,NM_015325.2;	uc003jdm.3	c.4643C>G	4865/7927	4	4			c.4643C>G						5	SNP	c.(4642-4644)CCA>CGA	30	30			ovary(1)|central_nervous_system(1)	2	Broad	hypothetical protein LOC23379			5464090		0.358	ENSG00000164151	8063	g.chr5:5464090C>G										2.329722	KEEP	0	4	-1	14	12	0	4	-1	6.82782	14	12	0.08	1	0	0	0	0	1	0	0	0	--	--		0	G				78	GBM-06-0939-TP	p.P1548R	C	AAACTAGAGCCATCTGGCAAA	NM_015325	NP_056140	5464090	Q9Y2F5	K0947_HUMAN	0			13	4865	+	G	G			Missense_Mutation	1548						
KIAA0947	0	broad.mit.edu	GRCh37	5	5464633	5464633	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-1804-01	TCGA-06-1804-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296564.7:c.5186G>T	p.Gly1729Val	p.G1729V	ENST00000296564	NM_015325.2	1729	gGc/gTc	0			1			T	G/V	uc003jdm.3	protein_coding	YES	CCDS47187.1			5186/6801									ovary(1)|central_nervous_system(1)	2	c.(5185-5187)GGC>GTC			hmmpanther:PTHR11852,hmmpanther:PTHR11852:SF3	hypothetical protein LOC23379				ENSP00000296564		13/19									COSM3410315	13/19	.		ENST00000296564	Transcript						ENSG00000164151	g.chr5:5464633G>T	29154			MODERATE		1.78	low	getma.org/?cm=msa&ty=f&p=K0947_HUMAN&rb=1581&re=2265&var=G1729V	NA	getma.org/?cm=var&var=hg19,5,5464633,G,T&fts=all	G1729V	--	--	1																																			1	1		probably_damaging(1)	p.G1729V	NM_015325	NP_056140		deleterious(0)	1	K0947_HUMAN	KIAA0947	HGNC	Q9Y2F5	K0947_HUMAN					13	5408	+			UPI00015542F9	1729			Pro-rich.		SNV	KIAA0947,missense_variant,p.Gly1729Val,ENST00000296564,NM_015325.2;	uc003jdm.3	c.5186G>T	5408/7927	2	2			c.5186G>T						5	SNP	c.(5185-5187)GGC>GTC	45	45			ovary(1)|central_nervous_system(1)	2	Broad	hypothetical protein LOC23379			5464633		0.587	ENSG00000164151	8063	g.chr5:5464633G>T										69.978826	KEEP	17	12	0.586206897	28	29	17	12	0.586206897	72.388616	28	29	0.317073	1	0	0	0	0	1	0	0	0	--	--		0	T				79	GBM-06-1804-TP	p.G1729V	G	CCTGTGCCTGGCCGACTCCCA	NM_015325	NP_056140	5464633	Q9Y2F5	K0947_HUMAN	0			13	5408	+	T	T			Missense_Mutation	1729			Pro-rich.			
KIAA1024	0	broad.mit.edu	GRCh37	15	79750063	79750063	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0879-01	TCGA-06-0879-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305428.3:c.1574T>C	p.Leu525Pro	p.L525P	ENST00000305428	NM_015206.2	525	cTt/cCt	0			1			C	L/P	uc002bew.1	protein_coding	YES	CCDS32306.1			1574/2751									pancreas(2)|ovary(1)|central_nervous_system(1)	4	c.(1573-1575)CTT>CCT			hmmpanther:PTHR31530,hmmpanther:PTHR31530:SF2	hypothetical protein LOC23251				ENSP00000307461		4-Feb									COSM2152290	4-Feb	.		ENST00000305428	Transcript				integral to membrane		ENSG00000169330	g.chr15:79750063T>C	29172			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=K1024_HUMAN&rb=1&re=757&var=L525P	NA	getma.org/?cm=var&var=hg19,15,79750063,T,C&fts=all	L525P	--	--	1																																		KIAA1024_uc010unk.1_Missense_Mutation_p.L525P	1	1		probably_damaging(0.999)	p.L525P	NM_015206	NP_056021		deleterious(0)	1	K1024_HUMAN	KIAA1024	HGNC	Q9UPX6	K1024_HUMAN					2	1649	+			UPI00001B2F56	525					SNV	KIAA1024,missense_variant,p.Leu525Pro,ENST00000305428,NM_015206.2;KIAA1024,missense_variant,p.Leu525Pro,ENST00000559272,;	uc002bew.1	c.1574T>C	1649/6732	3	3			c.1574T>C						15	SNP	c.(1573-1575)CTT>CCT	4	4			pancreas(2)|ovary(1)|central_nervous_system(1)	4	Broad	hypothetical protein LOC23251			79750063		0.502	ENSG00000169330	8066	g.chr15:79750063T>C		integral to membrane								118.264349	KEEP	17	22	-1	27	52	17	22	-1	121.173878	27	52	0.327273	1	0	0	0	0	1	0	0	0	--	--		0	C			KIAA1024_uc010unk.1_Missense_Mutation_p.L525P	75	GBM-06-0879-TP	p.L525P	T	TTCCGATTTCTTGATGACATG	NM_015206	NP_056021	79750063	Q9UPX6	K1024_HUMAN	0			2	1649	+	C	C			Missense_Mutation	525						
KIAA1024			GRCh37	15	79748562	79748562	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000305428.3:c.73G>A	p.Val25Ile	p.V25I	ENST00000305428	NM_015206.2	25	Gtt/Att	0																																																																																																																																																																																																																																												
KIAA1033			GRCh37	12	105519878	105519878	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000332180.5:c.883A>G	p.Ile295Val	p.I295V	ENST00000332180	NM_015275.1	295	Att/Gtt	0																																																																																																																																																																																																																																												
KIAA1033			GRCh37	12	105514968	105514968	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000332180.5:c.651G>T	p.Trp217Cys	p.W217C	ENST00000332180	NM_015275.1	217	tgG/tgT	0																																																																																																																																																																																																																																												
KIAA1045	0	broad.mit.edu	GRCh37	9	34971449	34971449	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1991-01	TCGA-32-1991-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000242315.3:c.154G>A	p.Val52Ile	p.V52I	ENST00000242315	NM_015297.1	52	Gtc/Atc	0			1			A	V/I	uc003zvq.2	protein_coding	YES	CCDS43796.1			154/1203									skin(1)	1	c.(154-156)GTC>ATC			Low_complexity_(Seg):seg,hmmpanther:PTHR10891,hmmpanther:PTHR10891:SF556	hypothetical protein LOC23349				ENSP00000242315		8-Feb	1.65E-05					3.00E-05			rs755638582,COSM3413629	8-Feb	.		ENST00000242315	Transcript					calcium ion binding	ENSG00000122733	g.chr9:34971449G>A	29180			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=K1045_HUMAN&rb=1&re=200&var=V52I	NA	getma.org/?cm=var&var=hg19,9,34971449,G,A&fts=all	V52I	--	--	1																																		KIAA1045_uc003zvr.2_Missense_Mutation_p.V52I	0,1	1		benign(0.361)	p.V52I	NM_015297	NP_056112		tolerated(0.3)	0,1	K1045_HUMAN	KIAA1045	HGNC	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)				2	332	+			UPI00001C1EB1	52					SNV	KIAA1045,missense_variant,p.Val52Ile,ENST00000242315,NM_015297.1;KIAA1045,missense_variant,p.Val52Ile,ENST00000544237,;KIAA1045,non_coding_transcript_exon_variant,,ENST00000486477,;KIAA1045,intron_variant,,ENST00000476115,;	uc003zvq.2	c.154G>A	236/5718	2	2			c.154G>A						9	SNP	c.(154-156)GTC>ATC	46	46			skin(1)	1	Broad	hypothetical protein LOC23349			34971449		0.647	ENSG00000122733	8068	g.chr9:34971449G>A			calcium ion binding							-11.740768	KEEP	0	5	-1	46	42	0	5	-1	6.500204	46	42	0.037975	1	0	0	0	0	1	0	0	0	--	--		0	A			KIAA1045_uc003zvr.2_Missense_Mutation_p.V52I	234	GBM-32-1991-TP	p.V52I	G	AGAGGGCTCCGTCCAGGAGGT	NM_015297	NP_056112	34971449	Q9UPV7	K1045_HUMAN	0	LUSC - Lung squamous cell carcinoma(32;0.00575)		2	332	+	A	A			Missense_Mutation	52						
KIAA1045	0	broad.mit.edu	GRCh37	9	34971375	34971375	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-32-2494-01	TCGA-32-2494-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000242315.3:c.80G>T	p.Gly27Val	p.G27V	ENST00000242315	NM_015297.1	27	gGg/gTg	0			1			T	G/V	uc003zvq.2	protein_coding	YES	CCDS43796.1			80/1203									skin(1)	1	c.(79-81)GGG>GTG			hmmpanther:PTHR10891,hmmpanther:PTHR10891:SF556	hypothetical protein LOC23349				ENSP00000242315		8-Feb									COSM3413628	8-Feb	.		ENST00000242315	Transcript					calcium ion binding	ENSG00000122733	g.chr9:34971375G>T	29180			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=K1045_HUMAN&rb=1&re=200&var=G27V	NA	getma.org/?cm=var&var=hg19,9,34971375,G,T&fts=all	G27V	--	--	1																																		KIAA1045_uc003zvr.2_Missense_Mutation_p.G27V	1	1		probably_damaging(1)	p.G27V	NM_015297	NP_056112		deleterious(0)	1	K1045_HUMAN	KIAA1045	HGNC	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)				2	258	+			UPI00001C1EB1	27					SNV	KIAA1045,missense_variant,p.Gly27Val,ENST00000242315,NM_015297.1;KIAA1045,missense_variant,p.Gly27Val,ENST00000544237,;KIAA1045,non_coding_transcript_exon_variant,,ENST00000486477,;KIAA1045,intron_variant,,ENST00000476115,;	uc003zvq.2	c.80G>T	162/5718	1	1			c.80G>T						9	SNP	c.(79-81)GGG>GTG	3	3			skin(1)	1	Broad	hypothetical protein LOC23349			34971375		0.607	ENSG00000122733	8068	g.chr9:34971375G>T			calcium ion binding							-23.966594	KEEP	1	2	0.333333333	66	62	1	2	0.333333333	6.910808	66	62	0.02439	1	0	0	0	0	1	0	0	0	--	--		0	T			KIAA1045_uc003zvr.2_Missense_Mutation_p.G27V	236	GBM-32-2494-TP	p.G27V	G	TTCAAGGATGGGCTGCGGGAC	NM_015297	NP_056112	34971375	Q9UPV7	K1045_HUMAN	0	LUSC - Lung squamous cell carcinoma(32;0.00575)		2	258	+	T	T			Missense_Mutation	27						
KIAA1109	84162	broad.mit.edu	GRCh37	4	123107257	123107257	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0241-01	TCGA-06-0241-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264501.4:c.425C>T	p.Ser142Leu	p.S142L	ENST00000264501		142	tCg/tTg	0		T:0	1	T:0		T	S/L	uc003ieh.2	protein_coding	YES	CCDS43267.1			425/15018									ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12	c.(424-426)TCG>TTG			hmmpanther:PTHR31640,hmmpanther:PTHR31640:SF1	fragile site-associated protein		T:0		ENSP00000264501	T:0.001	Jul-86	8.28E-06					1.50E-05			rs553523360,COSM2151167,COSM3409033	Jul-86	.		ENST00000264501	Transcript		T:0.0002	regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		ENSG00000138688	g.chr4:123107257C>T	26953			MODERATE		0.255	neutral	getma.org/?cm=msa&ty=f&p=K1109_HUMAN&rb=1&re=1180&var=S142L	NA	getma.org/?cm=var&var=hg19,4,123107257,C,T&fts=all	S142L	--	--	1																																		KIAA1109_uc003iei.1_5'UTR	0,1,1	1		benign(0.306)	p.S142L	NM_015312	NP_056127	T:0		0,1,1	K1109_HUMAN	KIAA1109	HGNC	Q2LD37	K1109_HUMAN			B3KN93_HUMAN		5	470	+			UPI0000DD87B4	142					SNV	KIAA1109,missense_variant,p.Ser142Leu,ENST00000264501,;KIAA1109,missense_variant,p.Ser142Leu,ENST00000388738,NM_015312.3;KIAA1109,missense_variant,p.Ser142Leu,ENST00000455637,;KIAA1109,upstream_gene_variant,,ENST00000424425,;	uc003ieh.2	c.425C>T	798/15896	2	2			c.425C>T						4	SNP	c.(424-426)TCG>TTG	24	24			ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Broad	fragile site-associated protein			123107257		0.358	ENSG00000138688	8069	g.chr4:123107257C>T	regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus								133.456198	KEEP	26	23	-1	29	40	26	23	-1	134.045583	29	40	0.420561	1	0	0	0	0	1	0	0	0	--	--		0	T			KIAA1109_uc003iei.1_5'UTR	57	GBM-06-0241-TP	p.S142L	C	TATAATCGCTCGGATCTTTAT	NM_015312	NP_056127	123107257	Q2LD37	K1109_HUMAN	0			5	470	+	T	T			Missense_Mutation	142						
KIAA1109	84162		GRCh37	4	123200986	123200986	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000264501.4:c.8648G>T	p.Gly2883Val	p.G2883V	ENST00000264501		2883	gGg/gTg	0																																																																																																																																																																																																																																												
KIAA1109	84162		GRCh37	4	123184110	123184110	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000264501.4:c.6954T>C	p.Ala2318=	p.A2318=	ENST00000264501		2318	gcT/gcC	0																																																																																																																																																																																																																																												
KIAA1109	84162		GRCh37	4	123192519	123192519	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000264501.4:c.7840C>T	p.Arg2614Trp	p.R2614W	ENST00000264501		2614	Cgg/Tgg	0																																																																																																																																																																																																																																												
KIAA1147	0	broad.mit.edu	GRCh37	7	141365018	141365018	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-5960-01	TCGA-19-5960-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000536163.1:c.921G>C	p.Glu307Asp	p.E307D	ENST00000536163	NM_001080392.1	307	gaG/gaC	0			1			G	E/D	uc003vwk.2	protein_coding	YES	CCDS47726.1			921/1368									ovary(1)	1	c.(919-921)GAG>GAC			Pfam_domain:PF09804,hmmpanther:PTHR31017,hmmpanther:PTHR31017:SF1	hypothetical protein LOC57189				ENSP00000445768		9-Jun									COSM3411667	9-Jun	.		ENST00000536163	Transcript						ENSG00000257093	g.chr7:141365018C>G	29472			MODERATE		0.065	neutral	getma.org/?cm=msa&ty=f&p=LCHN_HUMAN&rb=77&re=381&var=E307D	NA	getma.org/?cm=var&var=hg19,7,141365018,C,G&fts=all	E307D	--	--	1																																			1	1		benign(0.002)	p.E307D	NM_001080392	NP_001073861		tolerated(0.68)	1	LCHN_HUMAN	KIAA1147	HGNC	A4D1U4	LCHN_HUMAN					6	921	-	Melanoma(164;0.0171)		UPI0000251F74	307					SNV	KIAA1147,missense_variant,p.Glu307Asp,ENST00000536163,NM_001080392.1;KIAA1147,missense_variant,p.Glu203Asp,ENST00000482493,;RP5-894A10.6,upstream_gene_variant,,ENST00000602609,;	uc003vwk.2	c.921G>C	921/7296	3	3			c.921G>C						7	SNP	c.(919-921)GAG>GAC	13	13			ovary(1)	1	Broad	hypothetical protein LOC57189			141365018		0.602	ENSG00000257093	8071	g.chr7:141365018C>G										34.842349	KEEP	7	4	-1	6	13	7	4	-1	35.345659	6	13	0.357143	1	0	0	0	0	1	0	0	0	--	--		0	G				178	GBM-19-5960-TP	p.E307D	C	CCTCCAGGCTCTCGATGTCAG	NM_001080392	NP_001073861	141365018	A4D1U4	LCHN_HUMAN	0			6	921	-	G	G	Melanoma(164;0.0171)		Missense_Mutation	307						
KIAA1161	0	broad.mit.edu	GRCh37	9	34372688	34372688	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297625.7:c.152C>T	p.Ala51Val	p.A51V	ENST00000297625	NM_020702.3	51	gCg/gTg	0			1			A	A/V	uc003zue.3	protein_coding	YES				152/2043									ovary(1)|breast(1)|central_nervous_system(1)	3	c.(253-255)GCG>GTG			hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF70,Low_complexity_(Seg):seg	hypothetical protein LOC57462				ENSP00000297625		2-Feb									COSM3413620	2-Feb	.		ENST00000297625	Transcript			carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds	ENSG00000164976	g.chr9:34372688G>A	19918			MODERATE		1.385	low	getma.org/?cm=msa&ty=f&p=K1161_HUMAN&rb=1&re=200&var=A85V	NA	getma.org/?cm=var&var=hg19,9,34372688,G,A&fts=all	A85V	--	--	1																																			1	1		possibly_damaging(0.817)	p.A85V	NM_020702	NP_065753		deleterious(0.01)	1	K1161_HUMAN	KIAA1161	HGNC	Q6NSJ0	K1161_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)			3	421	-			UPI00002374BC	85			Extracellular (Potential).		SNV	KIAA1161,missense_variant,p.Ala51Val,ENST00000297625,NM_020702.3;KIAA1161,missense_variant,p.Ala48Val,ENST00000379142,;	uc003zue.3	c.254C>T	378/6398	1	1			c.254C>T						9	SNP	c.(253-255)GCG>GTG	60	60			ovary(1)|breast(1)|central_nervous_system(1)	3	Broad	hypothetical protein LOC57462			34372688		0.662	ENSG00000164976	8072	g.chr9:34372688G>A	carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds							23.198819	KEEP	6	4	-1	6	8	6	4	-1	23.372756	6	8	0.4	1	0	0	0	0	1	0	0	0	--	--		0	A				139	GBM-14-0817-TP	p.A85V	G	AAGTCGCTCCGCCTTGCGTAG	NM_020702	NP_065753	34372688	Q6NSJ0	K1161_HUMAN	0	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	3	421	-	A	A			Missense_Mutation	85			Extracellular (Potential).			
KIAA1210	57481	broad.mit.edu	GRCh37	X	118219419	118219419	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0125-01	TCGA-06-0125-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000402510.2:c.4775A>T	p.His1592Leu	p.H1592L	ENST00000402510	NM_020721.1	1592	cAc/cTc	0			1			A	H/L	uc004era.3	protein_coding	YES	CCDS48156.1			4775/5130									ovary(4)|skin(1)	5	c.(4774-4776)CAC>CTC				hypothetical protein LOC57481				ENSP00000384670		14-Dec									COSM3405879,COSM3405880	14-Dec	.		ENST00000402510	Transcript						ENSG00000250423	g.chrX:118219419T>A	29218			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=K1210_HUMAN&rb=1421&re=1707&var=H1592L	NA	getma.org/?cm=var&var=hg19,X,118219419,T,A&fts=all	H1592L	--	--	1																																			1,1	1		benign(0.055)	p.H1592L	NM_020721	NP_065772		tolerated(0.54)	1,1	K1210_HUMAN	KIAA1210	HGNC	Q9ULL0	K1210_HUMAN					12	4775	-			UPI0001596C4C	1592					SNV	KIAA1210,missense_variant,p.His1592Leu,ENST00000402510,NM_020721.1;	uc004era.3	c.4775A>T	4775/7824	1	1			c.4775A>T						23	SNP	c.(4774-4776)CAC>CTC	52	52			ovary(4)|skin(1)	5	Broad	hypothetical protein LOC57481			118219419		0.463	ENSG00000250423	8075	g.chrX:118219419T>A										-5.245974	KEEP	10	6	-1	78	105	10	6	-1	30.054673	78	105	0.066298	1	0	0	0	0	1	0	0	0	--	--		0	A				12	GBM-06-0125-TP	p.H1592L	T	CACAGAAATGTGGGCCTTGAA	NM_020721	NP_065772	118219419	Q9ULL0	K1210_HUMAN	0			12	4775	-	A	A			Missense_Mutation	1592						
KIAA1210	0	broad.mit.edu	GRCh37	X	118222577	118222577	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0786-01	TCGA-14-0786-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000402510.2:c.2616C>T	p.Asp872=	p.D872=	ENST00000402510	NM_020721.1	872	gaC/gaT	0			1			A	D	uc004era.3	protein_coding	YES	CCDS48156.1			2616/5130									ovary(4)|skin(1)	5	c.(2614-2616)GAC>GAT			hmmpanther:PTHR12036,hmmpanther:PTHR12036:SF19	hypothetical protein LOC57481				ENSP00000384670		14-Nov	1.66E-05					2.18E-05			rs759485627,COSM3405885,COSM3405886	14-Nov	.		ENST00000402510	Transcript						ENSG00000250423	g.chrX:118222577G>A	29218			LOW								--	--	1																																			0,1,1	1			p.D872D	NM_020721	NP_065772			0,1,1	K1210_HUMAN	KIAA1210	HGNC	Q9ULL0	K1210_HUMAN					11	2616	-			UPI0001596C4C	872					SNV	KIAA1210,synonymous_variant,p.=,ENST00000402510,NM_020721.1;	uc004era.3	c.2616C>T	2616/7824	1	1			c.2616C>T						23	SNP	c.(2614-2616)GAC>GAT	52	52			ovary(4)|skin(1)	5	Broad	hypothetical protein LOC57481			118222577		0.448	ENSG00000250423	8075	g.chrX:118222577G>A										67.623007	KEEP	14	11	-1	31	33	14	11	-1	69.737537	31	33	0.324675	1	0	0	0	0	0	0	1	0	--	--		0	A				134	GBM-14-0786-TP	p.D872D	G	TGAGAGGCAGGTCTTCCTCTG	NM_020721	NP_065772	118222577	Q9ULL0	K1210_HUMAN	0			11	2616	-	A	A			Silent	872						
KIAA1210	0	broad.mit.edu	GRCh37	X	118250604	118250604	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-1034-01	TCGA-14-1034-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000402510.2:c.505G>T	p.Ala169Ser	p.A169S	ENST00000402510	NM_020721.1	169	Gcc/Tcc	0			1			A	A/S	uc004era.3	protein_coding	YES	CCDS48156.1			505/5130									ovary(4)|skin(1)	5	c.(505-507)GCC>TCC			hmmpanther:PTHR12036,hmmpanther:PTHR12036:SF19,Low_complexity_(Seg):seg	hypothetical protein LOC57481				ENSP00000384670		14-Apr									COSM3405889,COSM3405890	14-Apr	.		ENST00000402510	Transcript						ENSG00000250423	g.chrX:118250604C>A	29218			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=K1210_HUMAN&rb=91&re=1419&var=A169S	NA	getma.org/?cm=var&var=hg19,X,118250604,C,A&fts=all	A169S	--	--	1																																			1,1	1		benign(0.008)	p.A169S	NM_020721	NP_065772		tolerated(0.13)	1,1	K1210_HUMAN	KIAA1210	HGNC	Q9ULL0	K1210_HUMAN					4	505	-			UPI0001596C4C	169					SNV	KIAA1210,missense_variant,p.Ala169Ser,ENST00000402510,NM_020721.1;	uc004era.3	c.505G>T	505/7824	1	1			c.505G>T						23	SNP	c.(505-507)GCC>TCC	64	64			ovary(4)|skin(1)	5	Broad	hypothetical protein LOC57481			118250604		0.398	ENSG00000250423	8075	g.chrX:118250604C>A										39.133946	KEEP	7	8	0.533333333	14	17	7	8	0.533333333	40.295226	14	17	0.325581	1	0	0	0	0	1	0	0	0	--	--		0	A				142	GBM-14-1034-TP	p.A169S	C	CTCTTAAGGGCTTTAAATTTG	NM_020721	NP_065772	118250604	Q9ULL0	K1210_HUMAN	0			4	505	-	A	A			Missense_Mutation	169						
KIAA1210	0	broad.mit.edu	GRCh37	X	118238988	118238988	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-41-5651-01	TCGA-41-5651-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000402510.2:c.1035G>T	p.Lys345Asn	p.K345N	ENST00000402510	NM_020721.1	345	aaG/aaT	0			1			A	K/N	uc004era.3	protein_coding	YES	CCDS48156.1			1035/5130									ovary(4)|skin(1)	5	c.(1033-1035)AAG>AAT			Pfam_domain:PF15262,hmmpanther:PTHR12036,hmmpanther:PTHR12036:SF19	hypothetical protein LOC57481				ENSP00000384670		14-Jul									COSM3405887,COSM3405888	14-Jul	.		ENST00000402510	Transcript						ENSG00000250423	g.chrX:118238988C>A	29218			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=K1210_HUMAN&rb=91&re=1419&var=K345N	NA	getma.org/?cm=var&var=hg19,X,118238988,C,A&fts=all	K345N	--	--	1																																			1,1	1		probably_damaging(0.913)	p.K345N	NM_020721	NP_065772		deleterious(0.01)	1,1	K1210_HUMAN	KIAA1210	HGNC	Q9ULL0	K1210_HUMAN					7	1035	-			UPI0001596C4C	345					SNV	KIAA1210,missense_variant,p.Lys345Asn,ENST00000402510,NM_020721.1;	uc004era.3	c.1035G>T	1035/7824	2	2			c.1035G>T						23	SNP	c.(1033-1035)AAG>AAT	45	45			ovary(4)|skin(1)	5	Broad	hypothetical protein LOC57481			118238988		0.418	ENSG00000250423	8075	g.chrX:118238988C>A										191.464596	KEEP	37	44	0.543209877	103	148	37	44	0.543209877	206.970801	103	148	0.257732	1	0	0	0	0	1	0	0	0	--	--		0	A				258	GBM-41-5651-TP	p.K345N	C	GTGGTAAAGCCTTCTTTTGTG	NM_020721	NP_065772	118238988	Q9ULL0	K1210_HUMAN	0			7	1035	-	A	A			Missense_Mutation	345						
KIAA1211	57482	broad.mit.edu	GRCh37	4	57189704	57189704	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0875-01	TCGA-06-0875-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504228.1:c.3351del	p.Lys1117AsnfsTer53	p.K1117Nfs*53	ENST00000504228		1117	Aaa/aa	0			1			-	K/X	uc003hbk.2	protein_coding		CCDS43230.1			3349/3702									ovary(1)|skin(1)	2	c.(3349-3351)AAAfs			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF350	hypothetical protein LOC57482				ENSP00000264229		11-Sep									COSM2152006	11-Sep	.		ENST00000264229	Transcript						ENSG00000109265	g.chr4:57189704delA	29219	2		HIGH								--	--	1																																		KIAA1211_uc010iha.2_Frame_Shift_Del_p.K1110fs	1				p.K1117fs	NM_020722	NP_065773			1	K1211_HUMAN	KIAA1211	HGNC	Q6ZU35	K1211_HUMAN					9	3740	+	Glioma(25;0.08)|all_neural(26;0.101)		UPI0000237309	1117					deletion	KIAA1211,frameshift_variant,p.Lys1117AsnfsTer53,ENST00000504228,;KIAA1211,frameshift_variant,p.Lys1110AsnfsTer53,ENST00000541073,;KIAA1211,frameshift_variant,p.Lys1117AsnfsTer53,ENST00000264229,NM_020722.1;KIAA1211,frameshift_variant,p.Lys64AsnfsTer?,ENST00000514330,;MRPL22P1,upstream_gene_variant,,ENST00000505398,;	uc003hbk.2	c.3349delA	3740/4109	5	5			c.3349delA						4	DEL	c.(3349-3351)AAAfs	47	47			ovary(1)|skin(1)	2	Broad	hypothetical protein LOC57482			57189704		0.507	ENSG00000109265	8076	g.chr4:57189704delA																							0.51	1	1	0	1	0	0	0	0	0	--	--		0	-			KIAA1211_uc010iha.2_Frame_Shift_Del_p.K1110fs	71	GBM-06-0875-TP	p.K1117fs	A	CAGAGAGGCCAAACAGGCAGA	NM_020722	NP_065773	57189704	Q6ZU35	K1211_HUMAN	0			9	3740	+	-	-	Glioma(25;0.08)|all_neural(26;0.101)		Frame_Shift_Del	1117						
KIAA1211	57482	broad.mit.edu	GRCh37	4	57189557	57189557	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-2561-01	TCGA-06-2561-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504228.1:c.3202C>T	p.Gln1068Ter	p.Q1068*	ENST00000504228		1068	Cag/Tag	0			1			T	Q/*	uc003hbk.2	protein_coding		CCDS43230.1			3202/3702									ovary(1)|skin(1)	2	c.(3202-3204)CAG>TAG			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF350	hypothetical protein LOC57482				ENSP00000264229		11-Sep									COSM2152747	11-Sep	.		ENST00000264229	Transcript						ENSG00000109265	g.chr4:57189557C>T	29219			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,4,57189557,C,T&fts=all	Q1068*	--	--	1																																		KIAA1211_uc010iha.2_Nonsense_Mutation_p.Q1061*	1				p.Q1068*	NM_020722	NP_065773			1	K1211_HUMAN	KIAA1211	HGNC	Q6ZU35	K1211_HUMAN					9	3593	+	Glioma(25;0.08)|all_neural(26;0.101)		UPI0000237309	1068					SNV	KIAA1211,stop_gained,p.Gln1068Ter,ENST00000504228,;KIAA1211,stop_gained,p.Gln1061Ter,ENST00000541073,;KIAA1211,stop_gained,p.Gln1068Ter,ENST00000264229,NM_020722.1;KIAA1211,stop_gained,p.Gln15Ter,ENST00000514330,;MRPL22P1,upstream_gene_variant,,ENST00000505398,;	uc003hbk.2	c.3202C>T	3593/4109	5	2			c.3202C>T						4	SNP	c.(3202-3204)CAG>TAG	17	17			ovary(1)|skin(1)	2	Broad	hypothetical protein LOC57482			57189557		0.468	ENSG00000109265	8076	g.chr4:57189557C>T										57.344772	KEEP	15	13	-1	44	25	15	13	-1	59.84815	44	25	0.3	1	0	0	0	0	0	1	0	0	--	--		0	T			KIAA1211_uc010iha.2_Nonsense_Mutation_p.Q1061*	84	GBM-06-2561-TP	p.Q1068*	C	GCCGATGCTTCAGAGCAGACA	NM_020722	NP_065773	57189557	Q6ZU35	K1211_HUMAN	0			9	3593	+	T	T	Glioma(25;0.08)|all_neural(26;0.101)		Nonsense_Mutation	1068						
KIAA1211L	343990	broad.mit.edu	GRCh37	2	99438353	99438353	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-2570-01	TCGA-06-2570-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397899.2:c.2383A>G	p.Thr795Ala	p.T795A	ENST00000397899	NM_207362.2	795	Acg/Gcg	0			1			C	T/A	uc002szf.1	protein_coding	YES	CCDS42720.1			2383/2889										0	c.(2383-2385)ACG>GCG			hmmpanther:PTHR22118:SF5,hmmpanther:PTHR22118	hypothetical protein LOC343990				ENSP00000380996		10-Jul									COSM2153131	10-Jul	.		ENST00000397899	Transcript						ENSG00000196872	g.chr2:99438353T>C	33454			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=CB055_HUMAN&rb=1&re=960&var=T795A	NA	getma.org/?cm=var&var=hg19,2,99438353,T,C&fts=all	T795A	--	--	1																																			1	1		benign(0.043)	p.T795A	NM_207362	NP_997245		tolerated(0.82)	1	K121L_HUMAN	KIAA1211L	HGNC	Q6NV74	CB055_HUMAN					7	2677	-			UPI0000E59245	795			Pro-rich.		SNV	KIAA1211L,missense_variant,p.Thr795Ala,ENST00000397899,NM_207362.2;KIAA1211L,non_coding_transcript_exon_variant,,ENST00000464413,;	uc002szf.1	c.2383A>G	2715/3907	3	3			c.2383A>G						2	SNP	c.(2383-2385)ACG>GCG	5	5				0	Broad	hypothetical protein LOC343990			99438353		0.721	ENSG00000196872	2132	g.chr2:99438353T>C										35.414204	KEEP	7	9	-1	9	14	7	9	-1	35.884183	9	14	0.366667	1	0	0	0	0	1	0	0	0	--	--		0	C				91	GBM-06-2570-TP	p.T795A	T	TTCTCCGCCGTCCTGGGCTCC	NM_207362	NP_997245	99438353	Q6NV74	CB055_HUMAN	0			7	2677	-	C	C			Missense_Mutation	795			Pro-rich.			
KIAA1211L	343990		GRCh37	2	99438371	99438371	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000397899.2:c.2365C>A	p.Pro789Thr	p.P789T	ENST00000397899	NM_207362.2	789	Ccc/Acc	0																																																																																																																																																																																																																																												
KIAA1217	56243	broad.mit.edu	GRCh37	10	24762771	24762771	+	synonymous_variant	Silent	SNP	C	C	T	rs143282203	byFrequency	TCGA-06-0152-01	TCGA-06-0152-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376454.3:c.1461C>T	p.His487=	p.H487=	ENST00000376454	NM_019590.3	487	caC/caT	0	T:0.0002	T:0	1	T:0		T	H	uc001iru.3	protein_coding	YES	CCDS31165.1			1461/5832									ovary(5)|skin(2)	7	c.(1459-1461)CAC>CAT			hmmpanther:PTHR22741,hmmpanther:PTHR22741:SF4	sickle tail isoform 1		T:0	T:0.0022	ENSP00000365637	T:0.001	21-Jun	0.00283	0.000384	0.00112		0.00106	0.00384	0.00441	0.00357	rs143282203,COSM3747853,COSM3747854	21-Jun	common_variant		ENST00000376454	Transcript		T:0.0008	embryonic skeletal system development	cytoplasm		ENSG00000120549	g.chr10:24762771C>T	25428			LOW								--	--	1																																		KIAA1217_uc001irs.2_Silent_p.H407H|KIAA1217_uc001irt.3_Silent_p.H487H|KIAA1217_uc010qcy.1_Silent_p.H487H|KIAA1217_uc010qcz.1_Silent_p.H487H|KIAA1217_uc001irv.1_Silent_p.H337H|KIAA1217_uc010qda.1_RNA|KIAA1217_uc001irw.2_Silent_p.H205H|KIAA1217_uc001irz.2_Silent_p.H205H|KIAA1217_uc001irx.2_Silent_p.H205H|KIAA1217_uc001iry.2_Silent_p.H205H	0,1,1	1			p.H487H	NM_019590	NP_062536	T:0.0031		0,1,1	SKT_HUMAN	KIAA1217	HGNC	Q5T5P2	SKT_HUMAN					6	1864	+			UPI000013EC2A	487					SNV	KIAA1217,synonymous_variant,p.=,ENST00000376451,;KIAA1217,synonymous_variant,p.=,ENST00000376454,NM_019590.3;KIAA1217,synonymous_variant,p.=,ENST00000376462,NM_001098500.1;KIAA1217,synonymous_variant,p.=,ENST00000458595,NM_001098501.1,NM_001282768.1;KIAA1217,synonymous_variant,p.=,ENST00000396445,;KIAA1217,synonymous_variant,p.=,ENST00000376452,NM_001282767.1;KIAA1217,synonymous_variant,p.=,ENST00000307544,NM_001282769.1;KIAA1217,synonymous_variant,p.=,ENST00000376456,;KIAA1217,synonymous_variant,p.=,ENST00000396446,NM_001282770.1;KIAA1217,synonymous_variant,p.=,ENST00000438429,;KIAA1217,synonymous_variant,p.=,ENST00000430453,;	uc001iru.3	c.1461C>T	1491/7381	2	2			c.1461C>T						10	SNP	c.(1459-1461)CAC>CAT	34	34			ovary(5)|skin(2)	7	Broad	sickle tail isoform 1			24762771		0.557	ENSG00000120549	8077	g.chr10:24762771C>T	embryonic skeletal system development	cytoplasm								4.734939	KEEP	2	8	-1	44	49	2	8	-1	18.292702	44	49	0.096386	1	0	0	0	0	0	0	1	0	--	--		0	T			KIAA1217_uc001irs.2_Silent_p.H407H|KIAA1217_uc001irt.3_Silent_p.H487H|KIAA1217_uc010qcy.1_Silent_p.H487H|KIAA1217_uc010qcz.1_Silent_p.H487H|KIAA1217_uc001irv.1_Silent_p.H337H|KIAA1217_uc010qda.1_RNA|KIAA1217_uc001irw.2_Silent_p.H205H|KIAA1217_uc001irz.2_Silent_p.H205H|KIAA1217_uc001irx.2_Silent_p.H205H|KIAA1217_uc001iry.2_Silent_p.H205H	25	GBM-06-0152-TP	p.H487H	C	TAGACATGCACGCTCACTATA	NM_019590	NP_062536	24762771	Q5T5P2	SKT_HUMAN	0			6	1864	+	T	T			Silent	487						
KIAA1217	56243	broad.mit.edu	GRCh37	10	24790356	24790356	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs141937477		TCGA-06-0174-01	TCGA-06-0174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376454.3:c.1883C>T	p.Thr628Met	p.T628M	ENST00000376454	NM_019590.3	628	aCg/aTg	0	T:0.0002		1			T	T/M	uc001iru.3	protein_coding	YES	CCDS31165.1			1883/5832									ovary(5)|skin(2)	7	c.(1882-1884)ACG>ATG			hmmpanther:PTHR22741,hmmpanther:PTHR22741:SF4	sickle tail isoform 1			T:0	ENSP00000365637		21-Sep	3.29E-05	0.000385							rs141937477,COSM3397053,COSM3397054	21-Sep	.		ENST00000376454	Transcript			embryonic skeletal system development	cytoplasm		ENSG00000120549	g.chr10:24790356C>T	25428			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=SKT_HUMAN&rb=1&re=1941&var=T628M	NA	getma.org/?cm=var&var=hg19,10,24790356,C,T&fts=all	T628M	--	--	1																																		KIAA1217_uc001irs.2_Missense_Mutation_p.T548M|KIAA1217_uc001irt.3_Missense_Mutation_p.T593M|KIAA1217_uc010qcy.1_Missense_Mutation_p.T593M|KIAA1217_uc010qcz.1_Missense_Mutation_p.T593M|KIAA1217_uc001irv.1_Missense_Mutation_p.T443M|KIAA1217_uc010qda.1_RNA|KIAA1217_uc001irw.2_Missense_Mutation_p.T311M|KIAA1217_uc001irz.2_Missense_Mutation_p.T311M|KIAA1217_uc001irx.2_Missense_Mutation_p.T311M|KIAA1217_uc001iry.2_Missense_Mutation_p.T311M	0,1,1	1		benign(0.374)	p.T628M	NM_019590	NP_062536		deleterious(0.05)	0,1,1	SKT_HUMAN	KIAA1217	HGNC	Q5T5P2	SKT_HUMAN					9	2286	+			UPI000013EC2A	628					SNV	KIAA1217,missense_variant,p.Thr311Met,ENST00000376451,;KIAA1217,missense_variant,p.Thr628Met,ENST00000376454,NM_019590.3;KIAA1217,missense_variant,p.Thr548Met,ENST00000376462,NM_001098500.1;KIAA1217,missense_variant,p.Thr593Met,ENST00000458595,NM_001098501.1,NM_001282768.1;KIAA1217,missense_variant,p.Thr311Met,ENST00000396445,;KIAA1217,missense_variant,p.Thr593Met,ENST00000376452,NM_001282767.1;KIAA1217,missense_variant,p.Thr311Met,ENST00000307544,NM_001282769.1;KIAA1217,missense_variant,p.Thr593Met,ENST00000376456,;KIAA1217,missense_variant,p.Thr311Met,ENST00000396446,NM_001282770.1;KIAA1217,missense_variant,p.Thr443Met,ENST00000438429,;KIAA1217,missense_variant,p.Thr514Met,ENST00000430453,;KIAA1217,non_coding_transcript_exon_variant,,ENST00000460373,;	uc001iru.3	c.1883C>T	1913/7381	2	2			c.1883C>T						10	SNP	c.(1882-1884)ACG>ATG	32	32			ovary(5)|skin(2)	7	Broad	sickle tail isoform 1			24790356		0.582	ENSG00000120549	8077	g.chr10:24790356C>T	embryonic skeletal system development	cytoplasm								2.916603	KEEP	3	2	-1	17	34	3	2	-1	10.840015	17	34	0.1	1	0	0	0	0	1	0	0	0	--	--		0	T			KIAA1217_uc001irs.2_Missense_Mutation_p.T548M|KIAA1217_uc001irt.3_Missense_Mutation_p.T593M|KIAA1217_uc010qcy.1_Missense_Mutation_p.T593M|KIAA1217_uc010qcz.1_Missense_Mutation_p.T593M|KIAA1217_uc001irv.1_Missense_Mutation_p.T443M|KIAA1217_uc010qda.1_RNA|KIAA1217_uc001irw.2_Missense_Mutation_p.T311M|KIAA1217_uc001irz.2_Missense_Mutation_p.T311M|KIAA1217_uc001irx.2_Missense_Mutation_p.T311M|KIAA1217_uc001iry.2_Missense_Mutation_p.T311M	37	GBM-06-0174-TP	p.T628M	C	CTGGAGTCCACGGTGCCTCCC	NM_019590	NP_062536	24790356	Q5T5P2	SKT_HUMAN	0			9	2286	+	T	T			Missense_Mutation	628						
KIAA1244	0	broad.mit.edu	GRCh37	6	138531166	138531166	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-0154-01	TCGA-06-0154-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251691.4:c.339G>T	p.Val113=	p.V113=	ENST00000251691	NM_020340.4	113	gtG/gtT	0			1			T	V	uc003qhu.2	protein_coding	YES	CCDS5189.2			339/6534									ovary(1)|skin(1)	2	c.(337-339)GTG>GTT			Superfamily_domains:SSF48371,hmmpanther:PTHR10663:SF13,hmmpanther:PTHR10663	brefeldin A-inhibited guanine				ENSP00000251691		Apr-34									COSM2149950,COSM2149949	Apr-34	.		ENST00000251691	Transcript			regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	ENSG00000112379	g.chr6:138531166G>T	21213			LOW								--	--	1																																			1,1	1			p.V113V	NM_020340	NP_065073			1,1	BIG3_HUMAN	KIAA1244	HGNC	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	C5NM88_HUMAN,B5MDV5_HUMAN		4	339	+	Breast(32;0.135)		UPI000150AF4A	113					SNV	KIAA1244,synonymous_variant,p.=,ENST00000251691,NM_020340.4;	uc003qhu.2	c.339G>T	505/14877	2	2			c.339G>T						6	SNP	c.(337-339)GTG>GTT	24	24			ovary(1)|skin(1)	2	Broad	brefeldin A-inhibited guanine			138531166		0.502	ENSG00000112379	8078	g.chr6:138531166G>T	regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity							93.79677	KEEP	13	19	0.40625	40	26	13	19	0.40625	95.604731	40	26	0.348315	1	0	0	0	0	0	0	1	0	--	--		0	T				26	GBM-06-0154-TP	p.V113V	G	ACCTGCAGGTGGAAGTGATGA	NM_020340	NP_065073	138531166	Q5TH69	BIG3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	4	339	+	T	T	Breast(32;0.135)		Silent	113						
KIAA1244	0	broad.mit.edu	GRCh37	6	138657552	138657552	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251691.4:c.6463G>A	p.Asp2155Asn	p.D2155N	ENST00000251691	NM_020340.4	2155	Gac/Aac	0	A:0		1			A	D/N	uc003qhu.2	protein_coding	YES	CCDS5189.2			6463/6534									ovary(1)|skin(1)	2	c.(6463-6465)GAC>AAC			hmmpanther:PTHR10663:SF13,hmmpanther:PTHR10663	brefeldin A-inhibited guanine			A:0.0001	ENSP00000251691		34/34	8.24E-06					1.50E-05			rs373010266,COSM2149905,COSM2149904	34/34	.		ENST00000251691	Transcript			regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	ENSG00000112379	g.chr6:138657552G>A	21213			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=BIG3_HUMAN&rb=2119&re=2177&var=D2155N	NA	getma.org/?cm=var&var=hg19,6,138657552,G,A&fts=all	D2155N	--	--	1																																			0,1,1	1		probably_damaging(0.994)	p.D2155N	NM_020340	NP_065073		tolerated(0.23)	0,1,1	BIG3_HUMAN	KIAA1244	HGNC	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	C5NM88_HUMAN,B5MDV5_HUMAN		34	6463	+	Breast(32;0.135)		UPI000150AF4A	2155					SNV	KIAA1244,missense_variant,p.Asp2155Asn,ENST00000251691,NM_020340.4;	uc003qhu.2	c.6463G>A	6629/14877	2	2			c.6463G>A						6	SNP	c.(6463-6465)GAC>AAC	21	21			ovary(1)|skin(1)	2	Broad	brefeldin A-inhibited guanine			138657552		0.562	ENSG00000112379	8078	g.chr6:138657552G>A	regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity							130.500721	KEEP	36	28	-1	74	88	36	28	-1	139.573225	74	88	0.266304	1	0	0	0	0	1	0	0	0	--	--		0	A				26	GBM-06-0154-TP	p.D2155N	G	TCACGTGACCGACATCAGAGT	NM_020340	NP_065073	138657552	Q5TH69	BIG3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	34	6463	+	A	A	Breast(32;0.135)		Missense_Mutation	2155						
KIAA1244	0	broad.mit.edu	GRCh37	6	138638494	138638494	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-26-6174-01	TCGA-26-6174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251691.4:c.4452G>C	p.Leu1484Phe	p.L1484F	ENST00000251691	NM_020340.4	1484	ttG/ttC	0			1			C	L/F	uc003qhu.2	protein_coding	YES	CCDS5189.2			4452/6534									ovary(1)|skin(1)	2	c.(4450-4452)TTG>TTC			Superfamily_domains:SSF48371,hmmpanther:PTHR10663:SF13,hmmpanther:PTHR10663	brefeldin A-inhibited guanine				ENSP00000251691		27/34									COSM3410626,COSM3410625	27/34	.		ENST00000251691	Transcript			regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	ENSG00000112379	g.chr6:138638494G>C	21213			MODERATE		0.84	low	getma.org/?cm=msa&ty=f&p=BIG3_HUMAN&rb=1319&re=1518&var=L1484F	NA	getma.org/?cm=var&var=hg19,6,138638494,G,C&fts=all	L1484F	--	--	1																																			1,1	1		probably_damaging(0.999)	p.L1484F	NM_020340	NP_065073		deleterious(0)	1,1	BIG3_HUMAN	KIAA1244	HGNC	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	C5NM88_HUMAN,B5MDV5_HUMAN		27	4452	+	Breast(32;0.135)		UPI000150AF4A	1484					SNV	KIAA1244,missense_variant,p.Leu1484Phe,ENST00000251691,NM_020340.4;	uc003qhu.2	c.4452G>C	4618/14877	3	3			c.4452G>C						6	SNP	c.(4450-4452)TTG>TTC	9	9			ovary(1)|skin(1)	2	Broad	brefeldin A-inhibited guanine			138638494		0.458	ENSG00000112379	8078	g.chr6:138638494G>C	regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity							49.405877	KEEP	10	8	-1	18	21	10	8	-1	50.909018	18	21	0.3125	1	0	0	0	0	1	0	0	0	--	--		0	C				188	GBM-26-6174-TP	p.L1484F	G	TTGAGCTGTTGAGAGATGTGA	NM_020340	NP_065073	138638494	Q5TH69	BIG3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	27	4452	+	C	C	Breast(32;0.135)		Missense_Mutation	1484						
KIAA1244	0	broad.mit.edu	GRCh37	6	138559683	138559683	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2514-01	TCGA-28-2514-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251691.4:c.458G>A	p.Arg153His	p.R153H	ENST00000251691	NM_020340.4	153	cGt/cAt	0			1			A	R/H	uc003qhu.2	protein_coding	YES	CCDS5189.2			458/6534									ovary(1)|skin(1)	2	c.(457-459)CGT>CAT			Superfamily_domains:SSF48371,hmmpanther:PTHR10663:SF13,hmmpanther:PTHR10663	brefeldin A-inhibited guanine				ENSP00000251691		Jun-34									COSM3410620,COSM3410619	Jun-34	.		ENST00000251691	Transcript			regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	ENSG00000112379	g.chr6:138559683G>A	21213			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=BIG3_HUMAN&rb=1&re=190&var=R153H	NA	getma.org/?cm=var&var=hg19,6,138559683,G,A&fts=all	R153H	--	--	1																																			1,1	1		possibly_damaging(0.667)	p.R153H	NM_020340	NP_065073		deleterious(0.02)	1,1	BIG3_HUMAN	KIAA1244	HGNC	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	C5NM88_HUMAN,B5MDV5_HUMAN		6	458	+	Breast(32;0.135)		UPI000150AF4A	153					SNV	KIAA1244,missense_variant,p.Arg153His,ENST00000251691,NM_020340.4;	uc003qhu.2	c.458G>A	624/14877	2	2			c.458G>A						6	SNP	c.(457-459)CGT>CAT	33	33			ovary(1)|skin(1)	2	Broad	brefeldin A-inhibited guanine			138559683		0.453	ENSG00000112379	8078	g.chr6:138559683G>A	regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity							183.546713	KEEP	38	32	-1	75	71	38	32	-1	188.622257	75	71	0.331683	1	0	0	0	0	1	0	0	0	--	--		0	A				214	GBM-28-2514-TP	p.R153H	G	TGTCACCAGCGTAGCATAAAC	NM_020340	NP_065073	138559683	Q5TH69	BIG3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	6	458	+	A	A	Breast(32;0.135)		Missense_Mutation	153						
KIAA1244	0	broad.mit.edu	GRCh37	6	138531138	138531138	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251691.4:c.311C>T	p.Thr104Met	p.T104M	ENST00000251691	NM_020340.4	104	aCg/aTg	0			1			T	T/M	uc003qhu.2	protein_coding	YES	CCDS5189.2			311/6534									ovary(1)|skin(1)	2	c.(310-312)ACG>ATG			Superfamily_domains:SSF48371,hmmpanther:PTHR10663:SF13,hmmpanther:PTHR10663	brefeldin A-inhibited guanine				ENSP00000251691		Apr-34									COSM3410618,COSM3410617	Apr-34	.		ENST00000251691	Transcript			regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	ENSG00000112379	g.chr6:138531138C>T	21213			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=BIG3_HUMAN&rb=1&re=190&var=T104M	NA	getma.org/?cm=var&var=hg19,6,138531138,C,T&fts=all	T104M	--	--	1																																			1,1	1		probably_damaging(0.997)	p.T104M	NM_020340	NP_065073		tolerated(0.47)	1,1	BIG3_HUMAN	KIAA1244	HGNC	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	C5NM88_HUMAN,B5MDV5_HUMAN		4	311	+	Breast(32;0.135)		UPI000150AF4A	104					SNV	KIAA1244,missense_variant,p.Thr104Met,ENST00000251691,NM_020340.4;	uc003qhu.2	c.311C>T	477/14877	2	2			c.311C>T						6	SNP	c.(310-312)ACG>ATG	26	26			ovary(1)|skin(1)	2	Broad	brefeldin A-inhibited guanine			138531138		0.502	ENSG00000112379	8078	g.chr6:138531138C>T	regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity							92.918543	KEEP	17	16	-1	24	20	17	16	-1	93.220098	24	20	0.430556	1	0	0	0	0	1	0	0	0	--	--		0	T				230	GBM-32-1979-TP	p.T104M	C	GTGAAAGTGACGCCTTCGCTC	NM_020340	NP_065073	138531138	Q5TH69	BIG3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	4	311	+	T	T	Breast(32;0.135)		Missense_Mutation	104						
KIAA1244	0	broad.mit.edu	GRCh37	6	138599742	138599742	+	synonymous_variant	Silent	SNP	G	G	A	rs111857517	by1000genomes	TCGA-76-4932-01	TCGA-76-4932-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251691.4:c.2283G>A	p.Ala761=	p.A761=	ENST00000251691	NM_020340.4	761	gcG/gcA	0		A:0.0008	1	A:0		A	A	uc003qhu.2	protein_coding	YES	CCDS5189.2			2283/6534									ovary(1)|skin(1)	2	c.(2281-2283)GCG>GCA			SMART_domains:SM00222,hmmpanther:PTHR10663:SF13,hmmpanther:PTHR10663	brefeldin A-inhibited guanine		A:0		ENSP00000251691	A:0	13/34	4.12E-05	9.73E-05						0.000185	rs111857517,COSM3410622,COSM3410621	13/34	.		ENST00000251691	Transcript		A:0.0002	regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	ENSG00000112379	g.chr6:138599742G>A	21213			LOW								--	--	1																																			0,1,1	1			p.A761A	NM_020340	NP_065073	A:0		0,1,1	BIG3_HUMAN	KIAA1244	HGNC	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	C5NM88_HUMAN,B5MDV5_HUMAN		13	2283	+	Breast(32;0.135)		UPI000150AF4A	761			SEC7.		SNV	KIAA1244,synonymous_variant,p.=,ENST00000251691,NM_020340.4;	uc003qhu.2	c.2283G>A	2449/14877	1	1			c.2283G>A						6	SNP	c.(2281-2283)GCG>GCA	56	56			ovary(1)|skin(1)	2	Broad	brefeldin A-inhibited guanine			138599742		0.612	ENSG00000112379	8078	g.chr6:138599742G>A	regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity							157.622412	KEEP	31	31	-1	30	33	31	31	-1	157.629958	30	33	0.491071	1	0	0	0	0	0	0	1	0	--	--		0	A				271	GBM-76-4932-TP	p.A761A	G	CGACCCTGGCGCCAGGCGTGA	NM_020340	NP_065073	138599742	Q5TH69	BIG3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	13	2283	+	A	A	Breast(32;0.135)		Silent	761			SEC7.			
KIAA1324	0	broad.mit.edu	GRCh37	1	109737164	109737164	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6701-01	TCGA-06-6701-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369939.3:c.2069C>T	p.Ser690Phe	p.S690F	ENST00000369939	NM_020775.4	690	tCc/tTc	0			1			T	S/F	uc001dwq.2	protein_coding	YES	CCDS794.1			2069/3042									ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	5	c.(2068-2070)TCC>TTC			hmmpanther:PTHR22727,hmmpanther:PTHR22727:SF13,Superfamily_domains:SSF50911	hypothetical protein LOC57535 precursor				ENSP00000358955		15/22									COSM3399522	15/22	.		ENST00000369939	Transcript			macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		ENSG00000116299	g.chr1:109737164C>T	29618			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=K1324_HUMAN&rb=601&re=800&var=S690F	NA	getma.org/?cm=var&var=hg19,1,109737164,C,T&fts=all	S690F	--	--	1																																		KIAA1324_uc009wex.1_Missense_Mutation_p.S640F|KIAA1324_uc009wey.2_Missense_Mutation_p.S603F|KIAA1324_uc010ovg.1_Missense_Mutation_p.S588F|KIAA1324_uc001dwr.2_Missense_Mutation_p.S340F|KIAA1324_uc001dws.1_5'Flank|KIAA1324_uc009wez.1_5'Flank	1	1		probably_damaging(0.956)	p.S690F	NM_020775	NP_065826		deleterious(0)	1	K1324_HUMAN	KIAA1324	HGNC	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	E9PS21_HUMAN,E9PMS2_HUMAN,E9PLY8_HUMAN,E9PLQ2_HUMAN		16	2205	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	UPI00002051E0	690			Extracellular (Potential).		SNV	KIAA1324,missense_variant,p.Ser690Phe,ENST00000369939,NM_020775.4;KIAA1324,missense_variant,p.Ser603Phe,ENST00000529753,NM_001267048.1;KIAA1324,missense_variant,p.Ser640Phe,ENST00000457623,;KIAA1324,non_coding_transcript_exon_variant,,ENST00000369938,;KIAA1324,3_prime_UTR_variant,,ENST00000527996,NM_001284352.1;KIAA1324,non_coding_transcript_exon_variant,,ENST00000369936,;KIAA1324,downstream_gene_variant,,ENST00000490758,;KIAA1324,downstream_gene_variant,,ENST00000464345,;	uc001dwq.2	c.2069C>T	2252/3442	2	2			c.2069C>T						1	SNP	c.(2068-2070)TCC>TTC	35	35			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	5	Broad	hypothetical protein LOC57535 precursor			109737164		0.493	ENSG00000116299	8084	g.chr1:109737164C>T	macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane								116.245908	KEEP	23	24	-1	31	32	23	24	-1	116.541606	31	32	0.43956	1	0	0	0	0	1	0	0	0	--	--		0	T			KIAA1324_uc009wex.1_Missense_Mutation_p.S640F|KIAA1324_uc009wey.2_Missense_Mutation_p.S603F|KIAA1324_uc010ovg.1_Missense_Mutation_p.S588F|KIAA1324_uc001dwr.2_Missense_Mutation_p.S340F|KIAA1324_uc001dws.1_5'Flank|KIAA1324_uc009wez.1_5'Flank	115	GBM-06-6701-TP	p.S690F	C	AGCTTCACTTCCAAAGGGCTG	NM_020775	NP_065826	109737164	Q6UXG2	K1324_HUMAN	0		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	16	2205	+	T	T		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	Missense_Mutation	690			Extracellular (Potential).			
KIAA1324L	222223	broad.mit.edu	GRCh37	7	86521158	86521158	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-02-2486-01	TCGA-02-2486-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000450689.2:c.2912A>T	p.Glu971Val	p.E971V	ENST00000450689	NM_001142749.2	971	gAg/gTg	0			1			A	E/V	uc011kha.1	protein_coding	YES	CCDS47632.1			2912/3090									ovary(6)|skin(1)	7	c.(2911-2913)GAG>GTG			hmmpanther:PTHR22727:SF3,hmmpanther:PTHR22727	hypothetical protein LOC222223 isoform 1				ENSP00000413445		21/22									COSM3412428,COSM3412427	21/22	.		ENST00000450689	Transcript				integral to membrane		ENSG00000164659	g.chr7:86521158T>A	21945			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=K132L_HUMAN&rb=801&re=1000&var=E971V	NA	getma.org/?cm=var&var=hg19,7,86521158,T,A&fts=all	E971V	--	--	1																																		KIAA1324L_uc003uif.1_Missense_Mutation_p.E731V|KIAA1324L_uc011kgz.1_Missense_Mutation_p.E857V|KIAA1324L_uc003uie.2_Missense_Mutation_p.E804V	1,1	1		probably_damaging(0.989)	p.E971V	NM_001142749	NP_001136221		deleterious(0)	1,1	K132L_HUMAN	KIAA1324L	HGNC	A8MWY0	K132L_HUMAN			F1LLU5_HUMAN,C9JFK7_HUMAN		21	3097	-	Esophageal squamous(14;0.0058)		UPI000173AA00	971			Cytoplasmic (Potential).		SNV	KIAA1324L,missense_variant,p.Glu971Val,ENST00000450689,NM_001142749.2;KIAA1324L,missense_variant,p.Glu731Val,ENST00000297222,;KIAA1324L,missense_variant,p.Glu900Val,ENST00000444627,;KIAA1324L,missense_variant,p.Glu804Val,ENST00000416314,NM_152748.3;KIAA1324L,missense_variant,p.Glu932Val,ENST00000423294,;KIAA1324L,3_prime_UTR_variant,,ENST00000394714,;KIAA1324L,non_coding_transcript_exon_variant,,ENST00000480216,;	uc011kha.1	c.2912A>T	3098/6841	2	2			c.2912A>T						7	SNP	c.(2911-2913)GAG>GTG	29	29			ovary(6)|skin(1)	7	Broad	hypothetical protein LOC222223 isoform 1			86521158		0.323	ENSG00000164659	8085	g.chr7:86521158T>A		integral to membrane								20.855016	KEEP	6	9	-1	36	41	6	9	-1	31.081138	36	41	0.149425	1	0	0	0	0	1	0	0	0	--	--		0	A			KIAA1324L_uc003uif.1_Missense_Mutation_p.E731V|KIAA1324L_uc011kgz.1_Missense_Mutation_p.E857V|KIAA1324L_uc003uie.2_Missense_Mutation_p.E804V	8	GBM-02-2486-TP	p.E971V	T	GAGTTCACACTCTTTTGAGTT	NM_001142749	NP_001136221	86521158	A8MWY0	K132L_HUMAN	0			21	3097	-	A	A	Esophageal squamous(14;0.0058)		Missense_Mutation	971			Cytoplasmic (Potential).			
KIAA1324L	222223	broad.mit.edu	GRCh37	7	86548556	86548556	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0174-01	TCGA-06-0174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000450689.2:c.1470C>A	p.Asn490Lys	p.N490K	ENST00000450689	NM_001142749.2	490	aaC/aaA	0			1			T	N/K	uc011kha.1	protein_coding	YES	CCDS47632.1			1470/3090									ovary(6)|skin(1)	7	c.(1468-1470)AAC>AAA			hmmpanther:PTHR22727:SF3,hmmpanther:PTHR22727	hypothetical protein LOC222223 isoform 1				ENSP00000413445		22-Nov									COSM3412432,COSM3412431	22-Nov	.		ENST00000450689	Transcript				integral to membrane		ENSG00000164659	g.chr7:86548556G>T	21945			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=K132L_HUMAN&rb=401&re=600&var=N490K	NA	getma.org/?cm=var&var=hg19,7,86548556,G,T&fts=all	N490K	--	--	1																																		KIAA1324L_uc003uif.1_Missense_Mutation_p.N250K|KIAA1324L_uc011kgz.1_Missense_Mutation_p.N376K|KIAA1324L_uc003uie.2_Missense_Mutation_p.N323K	1,1	1		benign(0.127)	p.N490K	NM_001142749	NP_001136221		deleterious(0.01)	1,1	K132L_HUMAN	KIAA1324L	HGNC	A8MWY0	K132L_HUMAN			F1LLU5_HUMAN,C9JFK7_HUMAN		11	1655	-	Esophageal squamous(14;0.0058)		UPI000173AA00	490			Extracellular (Potential).		SNV	KIAA1324L,missense_variant,p.Asn490Lys,ENST00000450689,NM_001142749.2;KIAA1324L,missense_variant,p.Asn250Lys,ENST00000297222,;KIAA1324L,missense_variant,p.Asn490Lys,ENST00000444627,;KIAA1324L,missense_variant,p.Asn323Lys,ENST00000416314,NM_152748.3;KIAA1324L,missense_variant,p.Asn451Lys,ENST00000423294,;KIAA1324L,non_coding_transcript_exon_variant,,ENST00000490995,;KIAA1324L,non_coding_transcript_exon_variant,,ENST00000474609,;KIAA1324L,3_prime_UTR_variant,,ENST00000394714,;	uc011kha.1	c.1470C>A	1656/6841	1	1			c.1470C>A						7	SNP	c.(1468-1470)AAC>AAA	13	13			ovary(6)|skin(1)	7	Broad	hypothetical protein LOC222223 isoform 1			86548556		0.373	ENSG00000164659	8085	g.chr7:86548556G>T		integral to membrane								116.834429	KEEP	26	25	0.509803922	62	58	26	25	0.509803922	122.354291	62	58	0.29078	1	0	0	0	0	1	0	0	0	--	--		0	T			KIAA1324L_uc003uif.1_Missense_Mutation_p.N250K|KIAA1324L_uc011kgz.1_Missense_Mutation_p.N376K|KIAA1324L_uc003uie.2_Missense_Mutation_p.N323K	37	GBM-06-0174-TP	p.N490K	G	GGATATGCAAGTTTAAGATCA	NM_001142749	NP_001136221	86548556	A8MWY0	K132L_HUMAN	0			11	1655	-	T	T	Esophageal squamous(14;0.0058)		Missense_Mutation	490			Extracellular (Potential).			
KIAA1324L	222223	broad.mit.edu	GRCh37	7	86526910	86526910	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-6390-01	TCGA-06-6390-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000450689.2:c.2597A>G	p.Tyr866Cys	p.Y866C	ENST00000450689	NM_001142749.2	866	tAt/tGt	0			1			C	Y/C	uc011kha.1	protein_coding	YES	CCDS47632.1			2597/3090									ovary(6)|skin(1)	7	c.(2596-2598)TAT>TGT			hmmpanther:PTHR22727:SF3,hmmpanther:PTHR22727,Superfamily_domains:SSF50911	hypothetical protein LOC222223 isoform 1				ENSP00000413445		19/22	2.47E-05		8.73E-05			3.00E-05			rs752737169	19/22	.		ENST00000450689	Transcript				integral to membrane		ENSG00000164659	g.chr7:86526910T>C	21945			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=K132L_HUMAN&rb=801&re=1000&var=Y866C	NA	getma.org/?cm=var&var=hg19,7,86526910,T,C&fts=all	Y866C	--	--	1																																		KIAA1324L_uc003uif.1_Missense_Mutation_p.Y626C|KIAA1324L_uc011kgz.1_Missense_Mutation_p.Y752C|KIAA1324L_uc003uie.2_Missense_Mutation_p.Y699C		1		probably_damaging(0.927)	p.Y866C	NM_001142749	NP_001136221		deleterious(0)		K132L_HUMAN	KIAA1324L	HGNC	A8MWY0	K132L_HUMAN			F1LLU5_HUMAN,C9JFK7_HUMAN		19	2782	-	Esophageal squamous(14;0.0058)		UPI000173AA00	866			Extracellular (Potential).		SNV	KIAA1324L,missense_variant,p.Tyr866Cys,ENST00000450689,NM_001142749.2;KIAA1324L,missense_variant,p.Tyr626Cys,ENST00000297222,;KIAA1324L,missense_variant,p.Tyr795Cys,ENST00000444627,;KIAA1324L,missense_variant,p.Tyr699Cys,ENST00000416314,NM_152748.3;KIAA1324L,missense_variant,p.Tyr827Cys,ENST00000423294,;KIAA1324L,3_prime_UTR_variant,,ENST00000394714,;KIAA1324L,upstream_gene_variant,,ENST00000480216,;	uc011kha.1	c.2597A>G	2783/6841	4	4			c.2597A>G						7	SNP	c.(2596-2598)TAT>TGT	46	46			ovary(6)|skin(1)	7	Broad	hypothetical protein LOC222223 isoform 1			86526910		0.453	ENSG00000164659	8085	g.chr7:86526910T>C		integral to membrane								54.067093	KEEP	7	15	-1	49	47	7	15	-1	64.288678	49	47	0.183486	1	0	0	0	0	1	0	0	0	--	--		0	C			KIAA1324L_uc003uif.1_Missense_Mutation_p.Y626C|KIAA1324L_uc011kgz.1_Missense_Mutation_p.Y752C|KIAA1324L_uc003uie.2_Missense_Mutation_p.Y699C	106	GBM-06-6390-TP	p.Y866C	T	CCACAGGAAATAGAACGTACA	NM_001142749	NP_001136221	86526910	A8MWY0	K132L_HUMAN	0			19	2782	-	C	C	Esophageal squamous(14;0.0058)		Missense_Mutation	866			Extracellular (Potential).			
KIAA1324L	222223		GRCh37	7	86521207	86521207	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000450689.2:c.2865-2A>T		p.X955_splice	ENST00000450689	NM_001142749.2	955		0																																																																																																																																																																																																																																												
KIAA1377	0	broad.mit.edu	GRCh37	11	101815013	101815013	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs145886481		TCGA-06-0173-01	TCGA-06-0173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263468.8:c.266G>A	p.Arg89Gln	p.R89Q	ENST00000263468	NM_020802.2	89	cGa/cAa	0			1			A	R/Q	uc001pgm.2	protein_coding	YES	CCDS31658.1			266/3354									breast(2)|ovary(1)|central_nervous_system(1)	4	c.(265-267)CGA>CAA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31191,Low_complexity_(Seg):seg	hypothetical protein LOC57562				ENSP00000263468		11-Mar	3.29E-05	0.000197				1.52E-05		6.10E-05	rs145886481,COSM2150419	11-Mar	.		ENST00000263468	Transcript	1				protein binding	ENSG00000110318	g.chr11:101815013G>A	29264			MODERATE		2.075	medium	getma.org/?cm=msa&ty=f&p=K1377_HUMAN&rb=41&re=1101&var=R89Q	NA	getma.org/?cm=var&var=hg19,11,101815013,G,A&fts=all	R89Q	--	--	1																																		KIAA1377_uc001pgn.2_Missense_Mutation_p.R45Q|KIAA1377_uc009yxa.1_5'UTR	0,1	1		benign(0.286)	p.R89Q	NM_020802	NP_065853		tolerated(0.21)	0,1	K1377_HUMAN	KIAA1377	HGNC	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	F5H5S1_HUMAN		3	536	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	UPI0000160A3D	89			Potential.		SNV	KIAA1377,missense_variant,p.Arg89Gln,ENST00000263468,NM_020802.2;KIAA1377,upstream_gene_variant,,ENST00000532529,;	uc001pgm.2	c.266G>A	536/7039	2	2			c.266G>A						11	SNP	c.(265-267)CGA>CAA	44	44			breast(2)|ovary(1)|central_nervous_system(1)	4	Broad	hypothetical protein LOC57562			101815013		0.308	ENSG00000110318	8088	g.chr11:101815013G>A			protein binding							55.039421	KEEP	11	7	-1	18	18	11	7	-1	55.60364	18	18	0.382979	1	0	0	0	0	1	0	0	0	--	--		0	A			KIAA1377_uc001pgn.2_Missense_Mutation_p.R45Q|KIAA1377_uc009yxa.1_5'UTR	36	GBM-06-0173-TP	p.R89Q	G	GAGGAGAAACGAAAAGAACAG	NM_020802	NP_065853	101815013	Q9P2H0	K1377_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;0.038)	3	536	+	A	A	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	Missense_Mutation	89			Potential.			
KIAA1377			GRCh37	11	101818772	101818772	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000263468.8:c.405A>G	p.Lys135=	p.K135=	ENST00000263468	NM_020802.2	135	aaA/aaG	0																																																																																																																																																																																																																																												
KIAA1407	0	broad.mit.edu	GRCh37	3	113684122	113684122	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-2572-01	TCGA-41-2572-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295878.3:c.2691G>A	p.Gln897=	p.Q897=	ENST00000295878	NM_020817.1	897	caG/caA	0			1			T		uc003eax.2	protein_coding	YES	CCDS33827.1			-/1230									ovary(2)	2	c.(2689-2691)CAG>CAA	2293			hypothetical protein LOC57577				ENSP00000330485											COSM3408146		.		ENST00000330212	Transcript						ENSG00000184307	g.chr3:113684122C>T	28654			MODIFIER								--	--	1																																			1				p.Q897Q	NM_020817	NP_065868			1	ZDH23_HUMAN	ZDHHC23	HGNC	Q8NCU4	K1407_HUMAN			C9JPJ8_HUMAN,B3KXV3_HUMAN		17	2838	-			UPI0000209F9A	897					SNV	ZDHHC23,missense_variant,p.Ala64Val,ENST00000496083,;KIAA1407,synonymous_variant,p.=,ENST00000295878,NM_020817.1;ZDHHC23,downstream_gene_variant,,ENST00000330212,NM_173570.3;ZDHHC23,downstream_gene_variant,,ENST00000498275,;ZDHHC23,downstream_gene_variant,,ENST00000488129,;ZDHHC23,downstream_gene_variant,,ENST00000478793,;	uc003eax.2	c.2691G>A	-/3778	2	2			c.2691G>A						3	SNP	c.(2689-2691)CAG>CAA	46	46			ovary(2)	2	Broad	hypothetical protein LOC57577			113684122		0.408	ENSG00000184307	8090	g.chr3:113684122C>T										268.666533	KEEP	47	53	-1	101	110	47	53	-1	273.644942	101	110	0.351562	1	0	0	0	0	0	0	1	0	--	--		0	T				251	GBM-41-2572-TP	p.Q897Q	C	TACGAAGTTGCTGTCGCCTTT	NM_020817	NP_065868	113684122	Q8NCU4	K1407_HUMAN	0			17	2838	-	T	T			Silent	897						
KIAA1429	0	broad.mit.edu	GRCh37	8	95547143	95547143	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0645-01	TCGA-06-0645-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297591.5:c.408A>G	p.Arg136=	p.R136=	ENST00000297591	NM_015496.4	136	agA/agG	0			1			C	R	uc003ygo.1	protein_coding	YES	CCDS34923.1			408/5439									ovary(1)|skin(1)	2	c.(406-408)AGA>AGG			hmmpanther:PTHR23185:SF0,hmmpanther:PTHR23185	hypothetical protein LOC25962 isoform 1				ENSP00000297591		24-May									COSM2151274,COSM2151275	24-May	.		ENST00000297591	Transcript			mRNA processing|RNA splicing	nucleus		ENSG00000164944	g.chr8:95547143T>C	24500			LOW								--	--	1																																		KIAA1429_uc003ygp.2_Silent_p.R136R	1,1	1			p.R136R	NM_015496	NP_056311			1,1	VIR_HUMAN	KIAA1429	HGNC	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)				5	421	-	Breast(36;3.29e-05)		UPI00001BBB23	136					SNV	KIAA1429,synonymous_variant,p.=,ENST00000297591,NM_015496.4;KIAA1429,synonymous_variant,p.=,ENST00000437199,;KIAA1429,synonymous_variant,p.=,ENST00000421249,NM_183009.2;RP11-267M23.3,downstream_gene_variant,,ENST00000521010,;KIAA1429,intron_variant,,ENST00000519001,;	uc003ygo.1	c.408A>G	484/6528	3	3			c.408A>G						8	SNP	c.(406-408)AGA>AGG	1	1			ovary(1)|skin(1)	2	Broad	hypothetical protein LOC25962 isoform 1			95547143		0.343	ENSG00000164944	8092	g.chr8:95547143T>C	mRNA processing|RNA splicing	nucleus								44.647641	KEEP	9	10	-1	28	20	9	10	-1	46.724979	28	20	0.298246	1	0	0	0	0	0	0	1	0	--	--		0	C			KIAA1429_uc003ygp.2_Silent_p.R136R	59	GBM-06-0645-TP	p.R136R	T	gtggAGAGTCTCTGTCATGAC	NM_015496	NP_056311	95547143	Q69YN4	VIR_HUMAN	0	BRCA - Breast invasive adenocarcinoma(8;0.00185)		5	421	-	C	C	Breast(36;3.29e-05)		Silent	136						
KIAA1429	0	broad.mit.edu	GRCh37	8	95521969	95521969	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297591.5:c.3826C>T	p.Arg1276Cys	p.R1276C	ENST00000297591	NM_015496.4	1276	Cgc/Tgc	0			1			A	R/C	uc003ygo.1	protein_coding	YES	CCDS34923.1			3826/5439									ovary(1)|skin(1)	2	c.(3826-3828)CGC>TGC			hmmpanther:PTHR23185:SF0,hmmpanther:PTHR23185,Superfamily_domains:SSF48371	hypothetical protein LOC25962 isoform 1				ENSP00000297591		15/24									COSM3413168	15/24	.		ENST00000297591	Transcript			mRNA processing|RNA splicing	nucleus		ENSG00000164944	g.chr8:95521969G>A	24500			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=VIR_HUMAN&rb=1090&re=1289&var=R1276C	NA	getma.org/?cm=var&var=hg19,8,95521969,G,A&fts=all	R1276C	--	--	1																																		KIAA1429_uc010maz.1_RNA	1	1		benign(0.44)	p.R1276C	NM_015496	NP_056311		deleterious(0.02)	1	VIR_HUMAN	KIAA1429	HGNC	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)				15	3839	-	Breast(36;3.29e-05)		UPI00001BBB23	1276					SNV	KIAA1429,missense_variant,p.Arg1276Cys,ENST00000297591,NM_015496.4;KIAA1429,missense_variant,p.Arg1276Cys,ENST00000437199,;KIAA1429,downstream_gene_variant,,ENST00000421249,NM_183009.2;KIAA1429,downstream_gene_variant,,ENST00000523405,;KIAA1429,missense_variant,p.Arg629Cys,ENST00000522263,;KIAA1429,non_coding_transcript_exon_variant,,ENST00000521080,;	uc003ygo.1	c.3826C>T	3902/6528	2	2			c.3826C>T						8	SNP	c.(3826-3828)CGC>TGC	44	44			ovary(1)|skin(1)	2	Broad	hypothetical protein LOC25962 isoform 1			95521969		0.348	ENSG00000164944	8092	g.chr8:95521969G>A	mRNA processing|RNA splicing	nucleus								219.040765	KEEP	37	35	-1	19	13	37	35	-1	222.887502	19	13	0.719101	1	0	0	0	0	1	0	0	0	--	--		0	A			KIAA1429_uc010maz.1_RNA	102	GBM-06-5858-TP	p.R1276C	G	CACTGTTGGCGAATAACACTG	NM_015496	NP_056311	95521969	Q69YN4	VIR_HUMAN	0	BRCA - Breast invasive adenocarcinoma(8;0.00185)		15	3839	-	A	A	Breast(36;3.29e-05)		Missense_Mutation	1276						
KIAA1429	0	broad.mit.edu	GRCh37	8	95531632	95531632	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-27-1836-01	TCGA-27-1836-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297591.5:c.2094T>C	p.Pro698=	p.P698=	ENST00000297591	NM_015496.4	698	ccT/ccC	0			1			G	P	uc003ygo.1	protein_coding	YES	CCDS34923.1			2094/5439									ovary(1)|skin(1)	2	c.(2092-2094)CCT>CCC			hmmpanther:PTHR23185:SF0,hmmpanther:PTHR23185,Superfamily_domains:SSF48371	hypothetical protein LOC25962 isoform 1				ENSP00000297591		24-Sep									COSM3413169,COSM3413170	24-Sep	.		ENST00000297591	Transcript			mRNA processing|RNA splicing	nucleus		ENSG00000164944	g.chr8:95531632A>G	24500			LOW								--	--	1																																		KIAA1429_uc003ygp.2_Silent_p.P698P|KIAA1429_uc010maz.1_RNA	1,1	1			p.P698P	NM_015496	NP_056311			1,1	VIR_HUMAN	KIAA1429	HGNC	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)				9	2107	-	Breast(36;3.29e-05)		UPI00001BBB23	698					SNV	KIAA1429,synonymous_variant,p.=,ENST00000297591,NM_015496.4;KIAA1429,synonymous_variant,p.=,ENST00000437199,;KIAA1429,synonymous_variant,p.=,ENST00000421249,NM_183009.2;KIAA1429,synonymous_variant,p.=,ENST00000522263,;	uc003ygo.1	c.2094T>C	2170/6528	3	3			c.2094T>C						8	SNP	c.(2092-2094)CCT>CCC	53	53			ovary(1)|skin(1)	2	Broad	hypothetical protein LOC25962 isoform 1			95531632		0.388	ENSG00000164944	8092	g.chr8:95531632A>G	mRNA processing|RNA splicing	nucleus								-20.372338	KEEP	3	1	-1	59	73	3	1	-1	8.954708	59	73	0.03252	1	0	0	0	0	0	0	1	0	--	--		0	G			KIAA1429_uc003ygp.2_Silent_p.P698P|KIAA1429_uc010maz.1_RNA	195	GBM-27-1836-TP	p.P698P	A	GCAGCACACCAGGGTGAGCAC	NM_015496	NP_056311	95531632	Q69YN4	VIR_HUMAN	0	BRCA - Breast invasive adenocarcinoma(8;0.00185)		9	2107	-	G	G	Breast(36;3.29e-05)		Silent	698						
KIAA1432	0	broad.mit.edu	GRCh37	9	5765489	5765489	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01	TCGA-06-0241-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000414202.2:c.2917G>A	p.Asp973Asn	p.D973N	ENST00000414202	NM_001206557.1	973	Gac/Aac	0			1			A	D/N	uc003zji.2	protein_coding	YES	CCDS34982.2			2917/4272										0	c.(2680-2682)GAC>AAC			hmmpanther:PTHR22746,hmmpanther:PTHR22746:SF10,Pfam_domain:PF07064	connexin 43-interacting protein 150 isoform a				ENSP00000416696		20/26									COSM2151119,COSM3413681	20/26	.		ENST00000414202	Transcript				integral to membrane		ENSG00000107036	g.chr9:5765489G>A	17686			MODERATE		0.85	low	getma.org/?cm=msa&ty=f&p=RIC1_HUMAN&rb=732&re=994&var=D973N	NA	getma.org/?cm=var&var=hg19,9,5765489,G,A&fts=all	D973N	--	--	1																																		KIAA1432_uc003zjh.2_Missense_Mutation_p.D894N|KIAA1432_uc003zjl.3_Missense_Mutation_p.D857N|KIAA1432_uc003zjj.1_Missense_Mutation_p.D436N|ERMP1_uc011lme.1_RNA	1,1	1		benign(0.044)	p.D894N	NM_020829	NP_065880		deleterious(0.01)	1,1	RIC1_HUMAN	KIAA1432	HGNC	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)			19	2773	+		Acute lymphoblastic leukemia(23;0.154)	UPI00002110DE	973					SNV	KIAA1432,missense_variant,p.Asp973Asn,ENST00000414202,NM_001206557.1,NM_020829.3;KIAA1432,missense_variant,p.Asp894Asn,ENST00000418622,;KIAA1432,missense_variant,p.Asp973Asn,ENST00000251879,NM_001135920.2;KIAA1432,missense_variant,p.Asp857Asn,ENST00000449720,;KIAA1432,missense_variant,p.Asp865Asn,ENST00000545641,;KIAA1432,missense_variant,p.Asp894Asn,ENST00000381532,;KIAA1432,upstream_gene_variant,,ENST00000490816,;ERMP1,3_prime_UTR_variant,,ENST00000462592,;KIAA1432,non_coding_transcript_exon_variant,,ENST00000276898,;KIAA1432,intron_variant,,ENST00000545243,;	uc003zji.2	c.2680G>A	3108/6774	2	2			c.2680G>A						9	SNP	c.(2680-2682)GAC>AAC	48	48				0	Broad	connexin 43-interacting protein 150 isoform a			5765489		0.448	ENSG00000107036	8094	g.chr9:5765489G>A		integral to membrane								285.944053	KEEP	57	54	-1	85	89	57	54	-1	289.009202	85	89	0.383721	1	0	0	0	0	1	0	0	0	--	--		0	A			KIAA1432_uc003zjh.2_Missense_Mutation_p.D894N|KIAA1432_uc003zjl.3_Missense_Mutation_p.D857N|KIAA1432_uc003zjj.1_Missense_Mutation_p.D436N|ERMP1_uc011lme.1_RNA	57	GBM-06-0241-TP	p.D894N	G	AGGCAAGTGGGACCTTTGTCG	NM_020829	NP_065880	5765489	Q4ADV7	RIC1_HUMAN	0		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	19	2773	+	A	A		Acute lymphoblastic leukemia(23;0.154)	Missense_Mutation	973						
KIAA1462	0	broad.mit.edu	GRCh37	10	30315407	30315407	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0152-01	TCGA-06-0152-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375377.1:c.3670C>G	p.Pro1224Ala	p.P1224A	ENST00000375377	NM_020848.2	1224	Cca/Gca	0			1			C	P/A	uc001iux.2	protein_coding	YES	CCDS41500.1			3670/4080									ovary(4)	4	c.(3670-3672)CCA>GCA			Pfam_domain:PF15351	hypothetical protein LOC57608				ENSP00000364526		4-Mar									COSM2149867	4-Mar	.		ENST00000375377	Transcript						ENSG00000165757	g.chr10:30315407G>C	29283			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=JCAD_HUMAN&rb=1201&re=1359&var=P1224A	NA	getma.org/?cm=var&var=hg19,10,30315407,G,C&fts=all	P1224A	--	--	1																																		KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.P1086A|KIAA1462_uc009xle.1_Missense_Mutation_p.P1224A	1	1		benign(0.287)	p.P1224A	NM_020848	NP_065899		tolerated(0.07)	1	JCAD_HUMAN	KIAA1462	HGNC	Q9P266	K1462_HUMAN					2	3729	-			UPI00001D8117	1224					SNV	KIAA1462,missense_variant,p.Pro1224Ala,ENST00000375377,NM_020848.2;	uc001iux.2	c.3670C>G	3772/9265	3	3			c.3670C>G						10	SNP	c.(3670-3672)CCA>GCA	7	7			ovary(4)	4	Broad	hypothetical protein LOC57608			30315407		0.488	ENSG00000165757	8095	g.chr10:30315407G>C										409.595527	KEEP	55	79	-1	39	34	55	79	-1	413.009329	39	34	0.646409	1	0	0	0	0	1	0	0	0	--	--		0	C			KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.P1086A|KIAA1462_uc009xle.1_Missense_Mutation_p.P1224A	25	GBM-06-0152-TP	p.P1224A	G	GCCACACTTGGGGTTCTTTCT	NM_020848	NP_065899	30315407	Q9P266	K1462_HUMAN	0			2	3729	-	C	C			Missense_Mutation	1224						
KIAA1462	0	broad.mit.edu	GRCh37	10	30315264	30315264	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375377.1:c.3813G>A	p.Met1271Ile	p.M1271I	ENST00000375377	NM_020848.2	1271	atG/atA	0			1			T	M/I	uc001iux.2	protein_coding	YES	CCDS41500.1			3813/4080									ovary(4)	4	c.(3811-3813)ATG>ATA			Pfam_domain:PF15351	hypothetical protein LOC57608				ENSP00000364526		4-Mar									COSM3397090	4-Mar	.		ENST00000375377	Transcript						ENSG00000165757	g.chr10:30315264C>T	29283			MODERATE		2.135	medium	getma.org/?cm=msa&ty=f&p=JCAD_HUMAN&rb=1201&re=1359&var=M1271I	NA	getma.org/?cm=var&var=hg19,10,30315264,C,T&fts=all	M1271I	--	--	1																																		KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.M1133I|KIAA1462_uc009xle.1_Missense_Mutation_p.M1271I	1	1		possibly_damaging(0.876)	p.M1271I	NM_020848	NP_065899		tolerated(0.08)	1	JCAD_HUMAN	KIAA1462	HGNC	Q9P266	K1462_HUMAN					2	3872	-			UPI00001D8117	1271					SNV	KIAA1462,missense_variant,p.Met1271Ile,ENST00000375377,NM_020848.2;	uc001iux.2	c.3813G>A	3915/9265	2	2			c.3813G>A						10	SNP	c.(3811-3813)ATG>ATA	24	24			ovary(4)	4	Broad	hypothetical protein LOC57608			30315264		0.582	ENSG00000165757	8095	g.chr10:30315264C>T										169.211899	KEEP	31	28	-1	27	38	31	28	-1	169.360267	27	38	0.462185	1	0	0	0	0	1	0	0	0	--	--		0	T			KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.M1133I|KIAA1462_uc009xle.1_Missense_Mutation_p.M1271I	159	GBM-19-1390-TP	p.M1271I	C	TCAGGACTCTCATCCGTGACA	NM_020848	NP_065899	30315264	Q9P266	K1462_HUMAN	0			2	3872	-	T	T			Missense_Mutation	1271						
KIAA1462	0	broad.mit.edu	GRCh37	10	30336587	30336587	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2638-01	TCGA-32-2638-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375377.1:c.155C>T	p.Ala52Val	p.A52V	ENST00000375377	NM_020848.2	52	gCg/gTg	0	A:0	A:0.0015	1	A:0		A	A/V	uc001iux.2	protein_coding	YES	CCDS41500.1			155/4080									ovary(4)	4	c.(154-156)GCG>GTG			Pfam_domain:PF15351	hypothetical protein LOC57608		A:0	A:0.0002	ENSP00000364526	A:0	4-Feb	4.96E-05	0.000205				4.50E-05		6.06E-05	rs201422216,COSM3397091	4-Feb	.		ENST00000375377	Transcript		A:0.0004				ENSG00000165757	g.chr10:30336587G>A	29283			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=JCAD_HUMAN&rb=1&re=200&var=A52V	NA	getma.org/?cm=var&var=hg19,10,30336587,G,A&fts=all	A52V	--	--	1																																		KIAA1462_uc001iuy.2_Missense_Mutation_p.A52V|KIAA1462_uc001iuz.2_5'UTR|KIAA1462_uc009xle.1_Missense_Mutation_p.A52V	0,1	1		benign(0.211)	p.A52V	NM_020848	NP_065899	A:0	tolerated(0.05)	0,1	JCAD_HUMAN	KIAA1462	HGNC	Q9P266	K1462_HUMAN					1	214	-			UPI00001D8117	52					SNV	KIAA1462,missense_variant,p.Ala52Val,ENST00000375377,NM_020848.2;KIAA1462,non_coding_transcript_exon_variant,,ENST00000465712,;	uc001iux.2	c.155C>T	257/9265	2	2			c.155C>T						10	SNP	c.(154-156)GCG>GTG	43	43			ovary(4)	4	Broad	hypothetical protein LOC57608			30336587		0.677	ENSG00000165757	8095	g.chr10:30336587G>A										176.465806	KEEP	33	25	-1	24	10	33	25	-1	177.701439	24	10	0.627907	1	0	0	0	0	1	0	0	0	--	--		0	A			KIAA1462_uc001iuy.2_Missense_Mutation_p.A52V|KIAA1462_uc001iuz.2_5'UTR|KIAA1462_uc009xle.1_Missense_Mutation_p.A52V	242	GBM-32-2638-TP	p.A52V	G	TGCGAGGGCCGCAGGGCCATC	NM_020848	NP_065899	30336587	Q9P266	K1462_HUMAN	0			1	214	-	A	A			Missense_Mutation	52						
KIAA1467	0	broad.mit.edu	GRCh37	12	13208635	13208635	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-2558-01	TCGA-06-2558-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000197268.8:c.188A>G	p.Asp63Gly	p.D63G	ENST00000197268	NM_020853.1	63	gAt/gGt	0			1			G	D/G	uc001rbi.2	protein_coding	YES	CCDS31750.1			188/1869									central_nervous_system(2)|skin(1)	3	c.(187-189)GAT>GGT			hmmpanther:PTHR21419,hmmpanther:PTHR21419:SF25	hypothetical protein LOC57613				ENSP00000197268		13-Feb	8.24E-06					1.50E-05			rs769080937,COSM2152583	13-Feb	.		ENST00000197268	Transcript				integral to membrane		ENSG00000084444	g.chr12:13208635A>G	29288			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=K1467_HUMAN&rb=1&re=172&var=D63G	NA	getma.org/?cm=var&var=hg19,12,13208635,A,G&fts=all	D63G	--	--	1																																		KIAA1467_uc009zhx.1_RNA	0,1	1		possibly_damaging(0.898)	p.D63G	NM_020853	NP_065904		tolerated(0.11)	0,1	K1467_HUMAN	KIAA1467	HGNC	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)			2	211	+		Prostate(47;0.184)	UPI00001FB6A1	63					SNV	KIAA1467,missense_variant,p.Asp63Gly,ENST00000197268,NM_020853.1;KIAA1467,missense_variant,p.Asp63Gly,ENST00000416494,;	uc001rbi.2	c.188A>G	308/4808	4	4			c.188A>G						12	SNP	c.(187-189)GAT>GGT	26	26			central_nervous_system(2)|skin(1)	3	Broad	hypothetical protein LOC57613			13208635		0.562	ENSG00000084444	8096	g.chr12:13208635A>G		integral to membrane								200.10617	KEEP	27	40	-1	44	56	27	40	-1	201.058628	44	56	0.412587	1	0	0	0	0	1	0	0	0	--	--		0	G			KIAA1467_uc009zhx.1_RNA	82	GBM-06-2558-TP	p.D63G	A	CCCGACTCAGATGCTGAGGTT	NM_020853	NP_065904	13208635	A2RU67	K1467_HUMAN	0		BRCA - Breast invasive adenocarcinoma(232;0.157)	2	211	+	G	G		Prostate(47;0.184)	Missense_Mutation	63						
KIAA1467	0	broad.mit.edu	GRCh37	12	13208755	13208755	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2629-01	TCGA-19-2629-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000197268.8:c.308G>A	p.Arg103His	p.R103H	ENST00000197268	NM_020853.1	103	cGc/cAc	0			1			A	R/H	uc001rbi.2	protein_coding	YES	CCDS31750.1			308/1869									central_nervous_system(2)|skin(1)	3	c.(307-309)CGC>CAC			hmmpanther:PTHR21419,hmmpanther:PTHR21419:SF25	hypothetical protein LOC57613				ENSP00000197268		13-Feb	1.65E-05					1.53E-05		6.09E-05	rs750265649,COSM3398533	13-Feb	.		ENST00000197268	Transcript				integral to membrane		ENSG00000084444	g.chr12:13208755G>A	29288			MODERATE		2.415	medium	getma.org/?cm=msa&ty=f&p=K1467_HUMAN&rb=1&re=172&var=R103H	NA	getma.org/?cm=var&var=hg19,12,13208755,G,A&fts=all	R103H	--	--	1																																		KIAA1467_uc009zhx.1_RNA	0,1	1		probably_damaging(0.999)	p.R103H	NM_020853	NP_065904		deleterious(0)	0,1	K1467_HUMAN	KIAA1467	HGNC	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)			2	331	+		Prostate(47;0.184)	UPI00001FB6A1	103					SNV	KIAA1467,missense_variant,p.Arg103His,ENST00000197268,NM_020853.1;KIAA1467,missense_variant,p.Arg103His,ENST00000416494,;	uc001rbi.2	c.308G>A	428/4808	2	2			c.308G>A						12	SNP	c.(307-309)CGC>CAC	33	33			central_nervous_system(2)|skin(1)	3	Broad	hypothetical protein LOC57613			13208755		0.587	ENSG00000084444	8096	g.chr12:13208755G>A		integral to membrane								21.968694	KEEP	14	8	-1	100	73	14	8	-1	45.699992	100	73	0.11976	1	0	0	0	0	1	0	0	0	--	--		0	A			KIAA1467_uc009zhx.1_RNA	166	GBM-19-2629-TP	p.R103H	G	TCATATGTGCGCACGTCTGTC	NM_020853	NP_065904	13208755	A2RU67	K1467_HUMAN	0		BRCA - Breast invasive adenocarcinoma(232;0.157)	2	331	+	A	A		Prostate(47;0.184)	Missense_Mutation	103						
KIAA1467	0	broad.mit.edu	GRCh37	12	13215874	13215874	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-5952-01	TCGA-19-5952-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000197268.8:c.817C>G	p.Arg273Gly	p.R273G	ENST00000197268	NM_020853.1	273	Cga/Gga	0	G:0.0005		1			G	R/G	uc001rbi.2	protein_coding	YES	CCDS31750.1			817/1869									central_nervous_system(2)|skin(1)	3	c.(817-819)CGA>GGA			Gene3D:2.140.10.10,hmmpanther:PTHR21419,hmmpanther:PTHR21419:SF25,Superfamily_domains:SSF50998	hypothetical protein LOC57613			G:0	ENSP00000197268		13-May	1.65E-05	0.000192							rs373297852,COSM3398534	13-May	.		ENST00000197268	Transcript				integral to membrane		ENSG00000084444	g.chr12:13215874C>G	29288			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=K1467_HUMAN&rb=173&re=500&var=R273G	NA	getma.org/?cm=var&var=hg19,12,13215874,C,G&fts=all	R273G	--	--	1																																		KIAA1467_uc009zhx.1_RNA	0,1	1		benign(0.027)	p.R273G	NM_020853	NP_065904		tolerated(0.25)	0,1	K1467_HUMAN	KIAA1467	HGNC	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)			5	840	+		Prostate(47;0.184)	UPI00001FB6A1	273					SNV	KIAA1467,missense_variant,p.Arg273Gly,ENST00000197268,NM_020853.1;KIAA1467,missense_variant,p.Arg49Gly,ENST00000537625,;KIAA1467,downstream_gene_variant,,ENST00000535974,;KIAA1467,missense_variant,p.Arg273Gly,ENST00000416494,;KIAA1467,non_coding_transcript_exon_variant,,ENST00000541950,;KIAA1467,upstream_gene_variant,,ENST00000540455,;	uc001rbi.2	c.817C>G	937/4808	3	3			c.817C>G						12	SNP	c.(817-819)CGA>GGA	64	64			central_nervous_system(2)|skin(1)	3	Broad	hypothetical protein LOC57613			13215874		0.448	ENSG00000084444	8096	g.chr12:13215874C>G		integral to membrane								-50.058582	KEEP	10	7	-1	179	231	10	7	-1	33.49233	179	231	0.040761	1	0	0	0	0	1	0	0	0	--	--		0	G			KIAA1467_uc009zhx.1_RNA	172	GBM-19-5952-TP	p.R273G	C	AGACGGTGTTCGAGACCTTGT	NM_020853	NP_065904	13215874	A2RU67	K1467_HUMAN	0		BRCA - Breast invasive adenocarcinoma(232;0.157)	5	840	+	G	G		Prostate(47;0.184)	Missense_Mutation	273						
KIAA1524	0	broad.mit.edu	GRCh37	3	108276241	108276241	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-5959-01	TCGA-19-5959-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295746.8:c.2034G>T	p.Met678Ile	p.M678I	ENST00000295746	NM_020890.2	678	atG/atT	0			1			A	M/I	uc003dxb.3	protein_coding	YES	CCDS33812.1			2034/2718									ovary(2)|central_nervous_system(1)	3	c.(2032-2034)ATG>ATT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23161,hmmpanther:PTHR23161:SF2	p90 autoantigen				ENSP00000295746		17/21									COSM3408099	17/21	.		ENST00000295746	Transcript				cytoplasm|integral to membrane	protein binding	ENSG00000163507	g.chr3:108276241C>A	29302			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=CIP2A_HUMAN&rb=657&re=687&var=M678I	NA	getma.org/?cm=var&var=hg19,3,108276241,C,A&fts=all	M678I	--	--	1																																			1	1		benign(0.253)	p.M678I	NM_020890	NP_065941		tolerated(0.07)	1	CIP2A_HUMAN	KIAA1524	HGNC	Q8TCG1	CIP2A_HUMAN					17	2303	-			UPI0000209EFF	678			Potential.		SNV	KIAA1524,missense_variant,p.Met678Ile,ENST00000295746,NM_020890.2;KIAA1524,missense_variant,p.Met519Ile,ENST00000491772,;KIAA1524,downstream_gene_variant,,ENST00000487834,;KIAA1524,3_prime_UTR_variant,,ENST00000481530,;	uc003dxb.3	c.2034G>T	2111/4075	2	2			c.2034G>T						3	SNP	c.(2032-2034)ATG>ATT	41	41			ovary(2)|central_nervous_system(1)	3	Broad	p90 autoantigen			108276241		0.368	ENSG00000163507	8100	g.chr3:108276241C>A		cytoplasm|integral to membrane	protein binding							37.494795	KEEP	4	8	0.666666667	2	12	4	8	0.666666667	37.528533	2	12	0.461538	1	0	0	0	0	1	0	0	0	--	--		0	A				177	GBM-19-5959-TP	p.M678I	C	CTTCTCTCAACATACTAGCAA	NM_020890	NP_065941	108276241	Q8TCG1	CIP2A_HUMAN	0			17	2303	-	A	A			Missense_Mutation	678			Potential.			
KIAA1524	0	broad.mit.edu	GRCh37	3	108279495	108279495	+	splice_donor_variant	Splice_Site	SNP	C	C	T			TCGA-32-2632-01	TCGA-32-2632-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295746.8:c.1827+1G>A		p.X609_splice	ENST00000295746	NM_020890.2			0			1			T		uc003dxb.3	protein_coding	YES	CCDS33812.1			1827/2718									ovary(2)|central_nervous_system(1)	3	c.e14+1				p90 autoantigen				ENSP00000295746											COSM3408100		.		ENST00000295746	Transcript				cytoplasm|integral to membrane	protein binding	ENSG00000163507	g.chr3:108279495C>T	29302			HIGH	14/20							--	--	1																																			1	1			p.V609_splice	NM_020890	NP_065941			1	CIP2A_HUMAN	KIAA1524	HGNC	Q8TCG1	CIP2A_HUMAN					14	2096	-			UPI0000209EFF						SNV	KIAA1524,splice_donor_variant,,ENST00000295746,NM_020890.2;KIAA1524,splice_donor_variant,,ENST00000491772,;KIAA1524,downstream_gene_variant,,ENST00000487834,;KIAA1524,splice_donor_variant,,ENST00000481530,;	uc003dxb.3	c.1827_splice	-/4075	5	1			c.1827_splice						3	SNP	c.e14+1	1	1			ovary(2)|central_nervous_system(1)	3	Broad	p90 autoantigen			108279495		0.328	ENSG00000163507	8100	g.chr3:108279495C>T		cytoplasm|integral to membrane	protein binding							198.172209	KEEP	54	25	-1	114	87	54	25	-1	207.411847	114	87	0.295547	1	0	0	0	0	0	0	0	1	--	--		0	T				240	GBM-32-2632-TP	p.V609_splice	C	TTTTCACTCACCACCATTCCA	NM_020890	NP_065941	108279495	Q8TCG1	CIP2A_HUMAN	0			14	2096	-	T	T			Splice_Site							
KIAA1549	0	broad.mit.edu	GRCh37	7	138546043	138546043	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-12-5295-01	TCGA-12-5295-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000422774.1:c.5089C>G	p.Leu1697Val	p.L1697V	ENST00000422774		1697	Ctc/Gtc	0			1			C	L/V	uc011kql.1	protein_coding	YES	CCDS56513.1			5089/5853	O		BRAF		pilocytic astrocytoma		KIAA1549/BRAF(229)		central_nervous_system(229)|pancreas(1)	230	c.(5089-5091)CTC>GTC			hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF4,Pfam_domain:PF12877	hypothetical protein LOC57670 isoform 1				ENSP00000416040		16/20									COSM3411637,COSM3411636	16/20	.		ENST00000422774	Transcript	1			integral to membrane		ENSG00000122778	g.chr7:138546043G>C	22219			MODERATE		2.39	medium	getma.org/?cm=msa&ty=f&p=K1549_HUMAN&rb=1035&re=1702&var=L1697V	NA	getma.org/?cm=var&var=hg19,7,138546043,G,C&fts=all	L1697V	--	--	1																																		KIAA1549_uc011kqi.1_Missense_Mutation_p.L481V|KIAA1549_uc003vuk.3_Missense_Mutation_p.L1647V|KIAA1549_uc011kqj.1_Missense_Mutation_p.L1697V|KIAA1549_uc011kqk.1_Missense_Mutation_p.L481V	1,1	1		probably_damaging(0.999)	p.L1697V	NM_020910	NP_065961		deleterious(0)	1,1	K1549_HUMAN	KIAA1549	HGNC	Q9HCM3	K1549_HUMAN					16	5138	-			UPI0001837EBD	1697					SNV	KIAA1549,missense_variant,p.Leu1697Val,ENST00000440172,NM_001164665.1,NM_020910.2;KIAA1549,missense_variant,p.Leu1647Val,ENST00000242365,;KIAA1549,missense_variant,p.Leu1697Val,ENST00000422774,;	uc011kql.1	c.5089C>G	5138/6283	3	3			c.5089C>G	O		BRAF		pilocytic astrocytoma	7	SNP	c.(5089-5091)CTC>GTC	52	52	KIAA1549/BRAF(229)		central_nervous_system(229)|pancreas(1)	230	Broad	hypothetical protein LOC57670 isoform 1			138546043		0.697	ENSG00000122778	8105	g.chr7:138546043G>C		integral to membrane		NSCLC(119;1534 1718 44213 46230 50068)		967	NSCLC(119;1534 1718 44213 46230 50068)		967	43.94774	KEEP	9	13	-1	47	42	9	13	-1	50.922156	47	42	0.215054	1	0	0	0	0	1	0	0	0	--	--		0	C			KIAA1549_uc011kqi.1_Missense_Mutation_p.L481V|KIAA1549_uc003vuk.3_Missense_Mutation_p.L1647V|KIAA1549_uc011kqj.1_Missense_Mutation_p.L1697V|KIAA1549_uc011kqk.1_Missense_Mutation_p.L481V	129	GBM-12-5295-TP	p.L1697V	G	GGGGCCACGAGGGCAAAGGCG	NM_020910	NP_065961	138546043	Q9HCM3	K1549_HUMAN	0			16	5138	-	C	C			Missense_Mutation	1697						
KIAA1549L	25758	broad.mit.edu	GRCh37	11	33564672	33564672	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0744-01	TCGA-06-0744-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321505.4:c.672A>G	p.Pro224=	p.P224=	ENST00000321505		224	ccA/ccG	0			1			G	P	uc001mup.3	protein_coding	YES	CCDS44565.2			672/5550									ovary(2)	2	c.(670-672)CCA>CCG			hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF3	hypothetical protein LOC25758				ENSP00000315295		20-Jan									COSM3397644,COSM3397643	20-Jan	.		ENST00000321505	Transcript				integral to membrane		ENSG00000110427	g.chr11:33564672A>G	24836			LOW								--	--	1																																OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C11orf41_uc001mun.1_Silent_p.P224P	1,1	1			p.P224P	NM_012194	NP_036326			1,1	K154L_HUMAN	KIAA1549L	HGNC	Q6ZVL6	CK041_HUMAN					1	796	+			UPI0000E59322	224					SNV	KIAA1549L,synonymous_variant,p.=,ENST00000321505,;KIAA1549L,synonymous_variant,p.=,ENST00000389726,NM_012194.2;KIAA1549L,synonymous_variant,p.=,ENST00000265654,;KIAA1549L,intron_variant,,ENST00000526400,;	uc001mup.3	c.672A>G	852/11678	3	3			c.672A>G						11	SNP	c.(670-672)CCA>CCG	52	52			ovary(2)	2	Broad	hypothetical protein LOC25758			33564672		0.537	ENSG00000110427	1603	g.chr11:33564672A>G		integral to membrane								-32.315568	KEEP	1	2	-1	90	75	1	2	-1	6.73865	90	75	0.019868	1	0	0	0	0	0	0	1	0	--	--		0	G	OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C11orf41_uc001mun.1_Silent_p.P224P	66	GBM-06-0744-TP	p.P224P	A	CTCCTGTGCCAGAAATGCCCA	NM_012194	NP_036326	33564672	Q6ZVL6	CK041_HUMAN	0			1	796	+	G	G			Silent	224						
KIAA1549L	25758		GRCh37	11	33566719	33566719	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000321505.4:c.2289G>A	p.Met763Ile	p.M763I	ENST00000321505		763	atG/atA	0																																																																																																																																																																																																																																												
KIAA1551	0	broad.mit.edu	GRCh37	12	32138039	32138039	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-1804-01	TCGA-06-1804-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312561.4:c.4150G>C	p.Asp1384His	p.D1384H	ENST00000312561	NM_018169.3	1384	Gat/Cat	0			1			C	D/H	uc001rks.2	protein_coding	YES	CCDS8725.2			4150/5244									ovary(1)|skin(1)	2	c.(4150-4152)GAT>CAT			Pfam_domain:PF15395,hmmpanther:PTHR21604	hypothetical protein LOC55196				ENSP00000310338		6-Apr									COSM3398671	6-Apr	.		ENST00000312561	Transcript						ENSG00000174718	g.chr12:32138039G>C	25559			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=CL035_HUMAN&rb=1374&re=1573&var=D1384H	NA	getma.org/?cm=var&var=hg19,12,32138039,G,C&fts=all	D1384H	--	--	1																																		C12orf35_uc001rkt.2_5'Flank	1	1		probably_damaging(0.943)	p.D1384H	NM_018169	NP_060639		deleterious(0.01)	1	K1551_HUMAN	KIAA1551	HGNC	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		J3KPI3_HUMAN,F5H488_HUMAN		4	4564	+	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		UPI0000577B2F	1384					SNV	KIAA1551,missense_variant,p.Asp1384His,ENST00000312561,NM_018169.3;KIAA1551,downstream_gene_variant,,ENST00000381054,;KIAA1551,downstream_gene_variant,,ENST00000540924,;KIAA1551,intron_variant,,ENST00000535596,;KIAA1551,intron_variant,,ENST00000397578,;KIAA1551,intron_variant,,ENST00000541981,;KIAA1551,upstream_gene_variant,,ENST00000543763,;	uc001rks.2	c.4150G>C	4564/6228	3	3			c.4150G>C						12	SNP	c.(4150-4152)GAT>CAT	59	59			ovary(1)|skin(1)	2	Broad	hypothetical protein LOC55196			32138039		0.343	ENSG00000174718	1645	g.chr12:32138039G>C										12.254297	KEEP	3	2	-1	7	20	3	2	-1	15.637972	7	20	0.16129	1	0	0	0	0	1	0	0	0	--	--		0	C			C12orf35_uc001rkt.2_5'Flank	79	GBM-06-1804-TP	p.D1384H	G	GAACGTATTAGATATGGAAGT	NM_018169	NP_060639	32138039	Q9HCM1	CL035_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		4	4564	+	C	C	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		Missense_Mutation	1384						
KIAA1551	0	broad.mit.edu	GRCh37	12	32137685	32137685	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-28-5213-01	TCGA-28-5213-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312561.4:c.3796A>C	p.Ser1266Arg	p.S1266R	ENST00000312561	NM_018169.3	1266	Agc/Cgc	0			1			C	S/R	uc001rks.2	protein_coding	YES	CCDS8725.2			3796/5244									ovary(1)|skin(1)	2	c.(3796-3798)AGC>CGC			Pfam_domain:PF15395,hmmpanther:PTHR21604	hypothetical protein LOC55196				ENSP00000310338		6-Apr									COSM3398670	6-Apr	.		ENST00000312561	Transcript						ENSG00000174718	g.chr12:32137685A>C	25559			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=CL035_HUMAN&rb=1224&re=1373&var=S1266R	NA	getma.org/?cm=var&var=hg19,12,32137685,A,C&fts=all	S1266R	--	--	1																																		C12orf35_uc001rkt.2_5'Flank	1	1		possibly_damaging(0.691)	p.S1266R	NM_018169	NP_060639		deleterious(0.01)	1	K1551_HUMAN	KIAA1551	HGNC	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		J3KPI3_HUMAN,F5H488_HUMAN		4	4210	+	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		UPI0000577B2F	1266					SNV	KIAA1551,missense_variant,p.Ser1266Arg,ENST00000312561,NM_018169.3;KIAA1551,downstream_gene_variant,,ENST00000381054,;KIAA1551,downstream_gene_variant,,ENST00000540924,;KIAA1551,intron_variant,,ENST00000535596,;KIAA1551,intron_variant,,ENST00000397578,;KIAA1551,intron_variant,,ENST00000541981,;KIAA1551,upstream_gene_variant,,ENST00000543763,;	uc001rks.2	c.3796A>C	4210/6228	4	4			c.3796A>C						12	SNP	c.(3796-3798)AGC>CGC	34	34			ovary(1)|skin(1)	2	Broad	hypothetical protein LOC55196			32137685		0.348	ENSG00000174718	1645	g.chr12:32137685A>C										47.173626	KEEP	9	12	-1	28	44	9	12	-1	54.121093	28	44	0.211111	1	0	0	0	0	1	0	0	0	--	--		0	C			C12orf35_uc001rkt.2_5'Flank	220	GBM-28-5213-TP	p.S1266R	A	AAAACATAAAAGCTTACCAAG	NM_018169	NP_060639	32137685	Q9HCM1	CL035_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		4	4210	+	C	C	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		Missense_Mutation	1266						
KIAA1551	0	broad.mit.edu	GRCh37	12	32135884	32135884	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-4209-01	TCGA-32-4209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312561.4:c.1995C>G	p.Asp665Glu	p.D665E	ENST00000312561	NM_018169.3	665	gaC/gaG	0			1			G	D/E	uc001rks.2	protein_coding	YES	CCDS8725.2			1995/5244									ovary(1)|skin(1)	2	c.(1993-1995)GAC>GAG			hmmpanther:PTHR21604	hypothetical protein LOC55196				ENSP00000310338		6-Apr									COSM3398669	6-Apr	.		ENST00000312561	Transcript						ENSG00000174718	g.chr12:32135884C>G	25559			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=CL035_HUMAN&rb=654&re=1223&var=D665E	NA	getma.org/?cm=var&var=hg19,12,32135884,C,G&fts=all	D665E	--	--	1																																			1	1		benign(0.365)	p.D665E	NM_018169	NP_060639		tolerated(0.14)	1	K1551_HUMAN	KIAA1551	HGNC	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		J3KPI3_HUMAN,F5H488_HUMAN		4	2409	+	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		UPI0000577B2F	665					SNV	KIAA1551,missense_variant,p.Asp665Glu,ENST00000312561,NM_018169.3;KIAA1551,missense_variant,p.Asp665Glu,ENST00000381054,;KIAA1551,downstream_gene_variant,,ENST00000540924,;KIAA1551,intron_variant,,ENST00000535596,;KIAA1551,intron_variant,,ENST00000397578,;KIAA1551,intron_variant,,ENST00000541981,;KIAA1551,upstream_gene_variant,,ENST00000543763,;	uc001rks.2	c.1995C>G	2409/6228	3	3			c.1995C>G						12	SNP	c.(1993-1995)GAC>GAG	9	9			ovary(1)|skin(1)	2	Broad	hypothetical protein LOC55196			32135884		0.423	ENSG00000174718	1645	g.chr12:32135884C>G										-34.021392	KEEP	0	4	-1	88	82	0	4	-1	7.661733	88	82	0.01875	1	0	0	0	0	1	0	0	0	--	--		0	G				244	GBM-32-4209-TP	p.D665E	C	CTAAAAGTGACAGTAGCTGTT	NM_018169	NP_060639	32135884	Q9HCM1	CL035_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		4	2409	+	G	G	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		Missense_Mutation	665						
KIAA1586	0	broad.mit.edu	GRCh37	6	56918065	56918065	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-15-0742-01	TCGA-15-0742-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370733.4:c.768A>C	p.Leu256Phe	p.L256F	ENST00000370733	NM_020931.2	256	ttA/ttC	0			1			C	L/F	uc003pdj.2	protein_coding	YES	CCDS34480.1			768/2364										0	c.(766-768)TTA>TTC				hypothetical protein LOC57691				ENSP00000359768		4-Apr									COSM3411226	4-Apr	.		ENST00000370733	Transcript					nucleic acid binding	ENSG00000168116	g.chr6:56918065A>C	21360			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=K1586_HUMAN&rb=201&re=400&var=L256F	NA	getma.org/?cm=var&var=hg19,6,56918065,A,C&fts=all	L256F	--	--	1																																		KIAA1586_uc011dxm.1_Missense_Mutation_p.L229F	1	1		probably_damaging(0.998)	p.L256F	NM_020931	NP_065982		deleterious(0.01)	1	K1586_HUMAN	KIAA1586	HGNC	Q9HCI6	K1586_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)				4	938	+	Lung NSC(77;0.0969)		UPI0000074573	256					SNV	KIAA1586,missense_variant,p.Leu256Phe,ENST00000370733,NM_020931.2,NM_001286275.1,NM_001286276.1;KIAA1586,missense_variant,p.Leu229Phe,ENST00000545356,NM_001286274.1;KIAA1586,downstream_gene_variant,,ENST00000488682,;	uc003pdj.2	c.768A>C	975/2933	3	3			c.768A>C						6	SNP	c.(766-768)TTA>TTC	5	5				0	Broad	hypothetical protein LOC57691			56918065		0.279	ENSG00000168116	8106	g.chr6:56918065A>C			nucleic acid binding							61.818124	KEEP	9	10	-1	14	15	9	10	-1	62.121432	14	15	0.413043	1	0	0	0	0	1	0	0	0	--	--		0	C			KIAA1586_uc011dxm.1_Missense_Mutation_p.L229F	153	GBM-15-0742-TP	p.L256F	A	TTTACAGTTTAGTAAAACATA	NM_020931	NP_065982	56918065	Q9HCI6	K1586_HUMAN	0	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		4	938	+	C	C	Lung NSC(77;0.0969)		Missense_Mutation	256						
KIAA1598	0	broad.mit.edu	GRCh37	10	118728190	118728190	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-3915-01	TCGA-41-3915-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355371.4:c.145G>A	p.Val49Ile	p.V49I	ENST00000355371	NM_001258299.1	49	Gtt/Att	0			1			T	V/I	uc009xyw.2	protein_coding	YES	CCDS44482.1			145/1896										0	c.(145-147)GTT>ATT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23213:SF179,hmmpanther:PTHR23213	shootin1 isoform a				ENSP00000347532		17-Mar									COSM915219,COSM915218,COSM3396936	17-Mar	.		ENST00000355371	Transcript			axon guidance	axon		ENSG00000187164	g.chr10:118728190C>T	29319			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=SHOT1_HUMAN&rb=1&re=50&var=V49I	NA	getma.org/?cm=var&var=hg19,10,118728190,C,T&fts=all	V49I	--	--	1																																		KIAA1598_uc001lcz.3_Missense_Mutation_p.V49I|KIAA1598_uc010qso.1_5'UTR|KIAA1598_uc010qsp.1_Missense_Mutation_p.V49I|KIAA1598_uc010qsq.1_5'UTR|KIAA1598_uc001lcy.3_Missense_Mutation_p.V19I	1,1,1	1		benign(0.002)	p.V49I	NM_001127211	NP_001120683		tolerated(0.39)	1,1,1	SHOT1_HUMAN	KIAA1598	HGNC	A0MZ66	SHOT1_HUMAN		all cancers(201;0.00494)			3	643	-			UPI0000404A8F	49			Potential.		SNV	KIAA1598,missense_variant,p.Val49Ile,ENST00000355371,NM_001258299.1,NM_001127211.2,NM_001258298.1;KIAA1598,missense_variant,p.Val49Ile,ENST00000260777,NM_018330.6;KIAA1598,missense_variant,p.Val49Ile,ENST00000392903,;KIAA1598,5_prime_UTR_variant,,ENST00000392901,NM_001258300.1;KIAA1598,non_coding_transcript_exon_variant,,ENST00000497044,;	uc009xyw.2	c.145G>A	643/3941	1	1			c.145G>A						10	SNP	c.(145-147)GTT>ATT	9	9				0	Broad	shootin1 isoform a			118728190		0.323	ENSG00000187164	8107	g.chr10:118728190C>T	axon guidance	axon								16.042922	KEEP	4	3	-1	7	6	4	3	-1	16.367968	7	6	0.352941	1	0	0	0	0	1	0	0	0	--	--		0	T			KIAA1598_uc001lcz.3_Missense_Mutation_p.V49I|KIAA1598_uc010qso.1_5'UTR|KIAA1598_uc010qsp.1_Missense_Mutation_p.V49I|KIAA1598_uc010qsq.1_5'UTR|KIAA1598_uc001lcy.3_Missense_Mutation_p.V19I	256	GBM-41-3915-TP	p.V49I	C	AGTTTTTTAACGGCTTCATCT	NM_001127211	NP_001120683	118728190	A0MZ66	SHOT1_HUMAN	0		all cancers(201;0.00494)	3	643	-	T	T			Missense_Mutation	49			Potential.			
KIAA1598	0	broad.mit.edu	GRCh37	10	118689505	118689505	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs145640256		TCGA-76-6193-01	TCGA-76-6193-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355371.4:c.867A>T	p.Glu289Asp	p.E289D	ENST00000355371	NM_001258299.1	289	gaA/gaT	0	A:0.0007	A:0.0023	1	A:0		A	E/D	uc009xyw.2	protein_coding	YES	CCDS44482.1			867/1896										0	c.(865-867)GAA>GAT			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23213:SF179,hmmpanther:PTHR23213	shootin1 isoform a		A:0	A:0	ENSP00000347532	A:0	17-Oct	5.77E-05	0.00068							rs145640256,COSM3396934,COSM3396933,COSM3396935	17-Oct	common_variant		ENST00000355371	Transcript		A:0.0006	axon guidance	axon		ENSG00000187164	g.chr10:118689505T>A	29319			MODERATE		1.43	low	getma.org/?cm=msa&ty=f&p=SHOT1_HUMAN&rb=51&re=629&var=E289D	NA	getma.org/?cm=var&var=hg19,10,118689505,T,A&fts=all	E289D	--	--	1																																		KIAA1598_uc001lcz.3_Missense_Mutation_p.E289D|KIAA1598_uc010qso.1_Missense_Mutation_p.E229D|KIAA1598_uc010qsp.1_Missense_Mutation_p.E289D|KIAA1598_uc010qsq.1_Missense_Mutation_p.E229D|KIAA1598_uc001lcy.3_Missense_Mutation_p.E259D	0,1,1,1	1		benign(0.005)	p.E289D	NM_001127211	NP_001120683	A:0	tolerated(0.36)	0,1,1,1	SHOT1_HUMAN	KIAA1598	HGNC	A0MZ66	SHOT1_HUMAN		all cancers(201;0.00494)			10	1365	-			UPI0000404A8F	289			Potential.		SNV	KIAA1598,missense_variant,p.Glu289Asp,ENST00000355371,NM_001258299.1,NM_001127211.2,NM_001258298.1;KIAA1598,missense_variant,p.Glu289Asp,ENST00000260777,NM_018330.6;KIAA1598,missense_variant,p.Glu289Asp,ENST00000392903,;KIAA1598,missense_variant,p.Glu229Asp,ENST00000392901,NM_001258300.1;KIAA1598,non_coding_transcript_exon_variant,,ENST00000497044,;	uc009xyw.2	c.867A>T	1365/3941	1	1			c.867A>T						10	SNP	c.(865-867)GAA>GAT	61	61				0	Broad	shootin1 isoform a			118689505		0.308	ENSG00000187164	8107	g.chr10:118689505T>A	axon guidance	axon								42.638319	KEEP	9	8	-1	28	27	9	8	-1	47.222458	28	27	0.236111	1	0	0	0	0	1	0	0	0	--	--		0	A			KIAA1598_uc001lcz.3_Missense_Mutation_p.E289D|KIAA1598_uc010qso.1_Missense_Mutation_p.E229D|KIAA1598_uc010qsp.1_Missense_Mutation_p.E289D|KIAA1598_uc010qsq.1_Missense_Mutation_p.E229D|KIAA1598_uc001lcy.3_Missense_Mutation_p.E259D	276	GBM-76-6193-TP	p.E289D	T	GCTCTTCTAATTCTTTGACCT	NM_001127211	NP_001120683	118689505	A0MZ66	SHOT1_HUMAN	0		all cancers(201;0.00494)	10	1365	-	A	A			Missense_Mutation	289			Potential.			
KIAA1598			GRCh37	10	118728202	118728202	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000355371.4:c.133C>A	p.Arg45=	p.R45=	ENST00000355371	NM_001258299.1	45	Cga/Aga	0																																																																																																																																																																																																																																												
KIAA1614	0	broad.mit.edu	GRCh37	1	180904433	180904433	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01	TCGA-12-3652-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367588.4:c.1388G>A	p.Arg463His	p.R463H	ENST00000367588	NM_020950.1	463	cGt/cAt	0			1			A	R/H	uc001gok.2	protein_coding	YES	CCDS41442.1			1388/3573									ovary(3)|skin(1)	4	c.(1387-1389)CGT>CAT			hmmpanther:PTHR17130,hmmpanther:PTHR17130:SF7,Low_complexity_(Seg):seg	hypothetical protein LOC57710				ENSP00000356560		9-May									COSM3400062	9-May	.		ENST00000367588	Transcript						ENSG00000135835	g.chr1:180904433G>A	29327			MODERATE		1.895	low	getma.org/?cm=msa&ty=f&p=K1614_HUMAN&rb=430&re=629&var=R463H	NA	getma.org/?cm=var&var=hg19,1,180904433,G,A&fts=all	R463H	--	--	1																																		KIAA1614_uc001gol.1_Missense_Mutation_p.R84H|KIAA1614_uc001gom.1_Intron	1	1		probably_damaging(0.999)	p.R463H	NM_020950	NP_066001		deleterious(0)	1	K1614_HUMAN	KIAA1614	HGNC	Q5VZ46	K1614_HUMAN					5	1455	+			UPI00001C1D75	463					SNV	KIAA1614,missense_variant,p.Arg463His,ENST00000367588,NM_020950.1;KIAA1614,missense_variant,p.Arg84His,ENST00000367587,;KIAA1614,intron_variant,,ENST00000483705,;	uc001gok.2	c.1388G>A	1443/9654	2	2			c.1388G>A						1	SNP	c.(1387-1389)CGT>CAT	18	18			ovary(3)|skin(1)	4	Broad	hypothetical protein LOC57710			180904433		0.731	ENSG00000135835	8109	g.chr1:180904433G>A										15.775067	KEEP	5	5	-1	2	6	5	5	-1	15.775067	2	6	0.5	1	0	0	0	0	1	0	0	0	--	--		0	A			KIAA1614_uc001gol.1_Missense_Mutation_p.R84H|KIAA1614_uc001gom.1_Intron	127	GBM-12-3652-TP	p.R463H	G	GCCGAGTTCCGTCACCTGGAG	NM_020950	NP_066001	180904433	Q5VZ46	K1614_HUMAN	0			5	1455	+	A	A			Missense_Mutation	463						
KIAA1614	57710		GRCh37	1	180914469	180914469	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000367588.4:c.3318C>T	p.Leu1106=	p.L1106=	ENST00000367588	NM_020950.1	1106	ctC/ctT	0																																																																																																																																																																																																																																												
KIAA1644	0	broad.mit.edu	GRCh37	22	44692617	44692617	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-02-2485-01	TCGA-02-2485-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381176.4:c.216C>T	p.Asn72=	p.N72=	ENST00000381176	NM_001099294.1	72	aaC/aaT	0	C:0.0002		1			A	N	uc003bet.2	protein_coding	YES	CCDS43025.1			216/600									ovary(1)	1	c.(214-216)AAC>AAT			hmmpanther:PTHR31395,hmmpanther:PTHR31395:SF6	hypothetical protein LOC85352 precursor			C:0	ENSP00000370568		5-Mar	2.48E-05	0.000102						0.000121	rs373946331,COSM3405707	5-Mar	.		ENST00000381176	Transcript				integral to membrane		ENSG00000138944	g.chr22:44692617G>A	29335			LOW								--	--	1																																			0,1	1			p.N72N	NM_001099294	NP_001092764			0,1	K1644_HUMAN	KIAA1644	HGNC	Q3SXP7	K1644_HUMAN					3	349	-		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)	UPI0000251ED8	72			Extracellular (Potential).		SNV	KIAA1644,synonymous_variant,p.=,ENST00000381176,NM_001099294.1;	uc003bet.2	c.216C>T	349/6751	2	2			c.216C>T						22	SNP	c.(214-216)AAC>AAT	26	26			ovary(1)	1	Broad	hypothetical protein LOC85352 precursor			44692617		0.582	ENSG00000138944	8111	g.chr22:44692617G>A		integral to membrane								408.325942	KEEP	87	66	-1	89	82	87	66	-1	408.626998	89	82	0.465278	1	0	0	0	0	0	0	1	0	--	--		0	A				7	GBM-02-2485-TP	p.N72N	G	ACTCCGTCTCGTTGCAGCAGT	NM_001099294	NP_001092764	44692617	Q3SXP7	K1644_HUMAN	0			3	349	-	A	A		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)	Silent	72			Extracellular (Potential).			
KIAA1755	85449	broad.mit.edu	GRCh37	20	36869819	36869819	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-06-0122-01	TCGA-06-0122-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000279024.4:c.714C>G	p.Gly238=	p.G238=	ENST00000279024	NM_001029864.1	238	ggC/ggG	0			1			C	G	uc002xhy.1	protein_coding	YES	CCDS33467.1			714/3603									ovary(4)|pancreas(1)	5	c.(712-714)GGC>GGG			hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF114	hypothetical protein LOC85449				ENSP00000279024		14-Mar									COSM2149182	14-Mar	.		ENST00000279024	Transcript						ENSG00000149633	g.chr20:36869819G>C	29372			LOW								--	--	1																																		KIAA1755_uc002xhz.1_Silent_p.G238G	1	1			p.G238G	NM_001029864	NP_001025035			1	K1755_HUMAN	KIAA1755	HGNC	Q5JYT7	K1755_HUMAN					3	986	-		Myeloproliferative disorder(115;0.00874)	UPI000041AADF	238					SNV	KIAA1755,synonymous_variant,p.=,ENST00000279024,NM_001029864.1;KIAA1755,non_coding_transcript_exon_variant,,ENST00000496900,;	uc002xhy.1	c.714C>G	986/6429	3	3			c.714C>G						20	SNP	c.(712-714)GGC>GGG	60	60			ovary(4)|pancreas(1)	5	Broad	hypothetical protein LOC85449			36869819		0.582	ENSG00000149633	8118	g.chr20:36869819G>C										144.995792	KEEP	29	18	-1	58	44	29	18	-1	149.169011	58	44	0.319444	1	0	0	0	0	0	0	1	0	--	--		0	C			KIAA1755_uc002xhz.1_Silent_p.G238G	10	GBM-06-0122-TP	p.G238G	G	CATATGTCCTGCCCTTACCCT	NM_001029864	NP_001025035	36869819	Q5JYT7	K1755_HUMAN	0			3	986	-	C	C		Myeloproliferative disorder(115;0.00874)	Silent	238						
KIAA1755	0	broad.mit.edu	GRCh37	20	36841631	36841631	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01	TCGA-19-2631-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000279024.4:c.3416G>A	p.Gly1139Asp	p.G1139D	ENST00000279024	NM_001029864.1	1139	gGc/gAc	0			1			T	G/D	uc002xhy.1	protein_coding	YES	CCDS33467.1			3416/3603									ovary(4)|pancreas(1)	5	c.(3415-3417)GGC>GAC				hypothetical protein LOC85449				ENSP00000279024		14/14									COSM3405066	14/14	.		ENST00000279024	Transcript						ENSG00000149633	g.chr20:36841631C>T	29372			MODERATE		1.385	low	getma.org/?cm=msa&ty=f&p=K1755_HUMAN&rb=1117&re=1200&var=G1139D	NA	getma.org/?cm=var&var=hg19,20,36841631,C,T&fts=all	G1139D	--	--	1																																		KIAA1755_uc002xhv.1_Missense_Mutation_p.G203D|KIAA1755_uc002xhw.1_Missense_Mutation_p.G194D|KIAA1755_uc002xhx.1_Missense_Mutation_p.G417D	1	1		benign(0.025)	p.G1139D	NM_001029864	NP_001025035		tolerated_low_confidence(0.05)	1	K1755_HUMAN	KIAA1755	HGNC	Q5JYT7	K1755_HUMAN					14	3688	-		Myeloproliferative disorder(115;0.00874)	UPI000041AADF	1139					SNV	KIAA1755,missense_variant,p.Gly1139Asp,ENST00000279024,NM_001029864.1;KIAA1755,downstream_gene_variant,,ENST00000435901,;KIAA1755,non_coding_transcript_exon_variant,,ENST00000484362,;KIAA1755,non_coding_transcript_exon_variant,,ENST00000460881,;KIAA1755,non_coding_transcript_exon_variant,,ENST00000487506,;	uc002xhy.1	c.3416G>A	3688/6429	2	2			c.3416G>A						20	SNP	c.(3415-3417)GGC>GAC	45	45			ovary(4)|pancreas(1)	5	Broad	hypothetical protein LOC85449			36841631		0.652	ENSG00000149633	8118	g.chr20:36841631C>T										-26.367979	KEEP	5	1	-1	111	46	5	1	-1	6.4014	111	46	0.02963	1	0	0	0	0	1	0	0	0	--	--		0	T			KIAA1755_uc002xhv.1_Missense_Mutation_p.G203D|KIAA1755_uc002xhw.1_Missense_Mutation_p.G194D|KIAA1755_uc002xhx.1_Missense_Mutation_p.G417D	167	GBM-19-2631-TP	p.G1139D	C	GGAGCCTTTGCCGTCTTCAGC	NM_001029864	NP_001025035	36841631	Q5JYT7	K1755_HUMAN	0			14	3688	-	T	T		Myeloproliferative disorder(115;0.00874)	Missense_Mutation	1139						
KIAA2022	0	broad.mit.edu	GRCh37	X	73963609	73963609	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000055682.6:c.783C>T	p.Phe261=	p.F261=	ENST00000055682	NM_001008537.2	261	ttC/ttT	0			1			A	F	uc004eby.2	protein_coding	YES	CCDS35337.1			783/4551									ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15	c.(781-783)TTC>TTT			hmmpanther:PTHR10322,hmmpanther:PTHR10322:SF2	hypothetical protein LOC340533				ENSP00000055682		4-Mar	1.65E-05		0.000215						rs768534908,COSM376356	4-Mar	.		ENST00000055682	Transcript	1		base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	ENSG00000050030	g.chrX:73963609G>A	29433			LOW								--	--	1																																			0,1	1			p.F261F	NM_001008537	NP_001008537			0,1	K2022_HUMAN	KIAA2022	HGNC	Q5QGS0	K2022_HUMAN					3	1400	-			UPI00001C207B	261					SNV	KIAA2022,synonymous_variant,p.=,ENST00000055682,NM_001008537.2;KIAA2022,upstream_gene_variant,,ENST00000424929,;	uc004eby.2	c.783C>T	1395/11719	2	2			c.783C>T						23	SNP	c.(781-783)TTC>TTT	18	18			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15	Broad	hypothetical protein LOC340533			73963609		0.393	ENSG00000050030	8130	g.chrX:73963609G>A	base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			126			126	398.33827	KEEP	72	54	-1	44	39	72	54	-1	400.185965	44	39	0.603015	1	0	0	0	0	0	0	1	0	--	--		0	A				46	GBM-06-0209-TP	p.F261F	G	TAAAAGTCTCGAAGTAACCCC	NM_001008537	NP_001008537	73963609	Q5QGS0	K2022_HUMAN	0			3	1400	-	A	A			Silent	261						
KIAA2022	0	broad.mit.edu	GRCh37	X	73959989	73959989	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-14-4157-01	TCGA-14-4157-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000055682.6:c.4403A>G	p.Glu1468Gly	p.E1468G	ENST00000055682	NM_001008537.2	1468	gAg/gGg	0			1			C	E/G	uc004eby.2	protein_coding	YES	CCDS35337.1			4403/4551								p.E1468G(1)	ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15	c.(4402-4404)GAG>GGG				hypothetical protein LOC340533				ENSP00000055682		4-Mar									COSM75146	4-Mar	.		ENST00000055682	Transcript	1		base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	ENSG00000050030	g.chrX:73959989T>C	29433			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=K2022_HUMAN&rb=1051&re=1515&var=E1468G	NA	getma.org/?cm=var&var=hg19,X,73959989,T,C&fts=all	E1468G	--	--	1																																			1	1		possibly_damaging(0.798)	p.E1468G	NM_001008537	NP_001008537		deleterious(0)	1	K2022_HUMAN	KIAA2022	HGNC	Q5QGS0	K2022_HUMAN					3	5020	-			UPI00001C207B	1468					SNV	KIAA2022,missense_variant,p.Glu1468Gly,ENST00000055682,NM_001008537.2;KIAA2022,missense_variant,p.Glu70Gly,ENST00000424929,;	uc004eby.2	c.4403A>G	5015/11719	3	3			c.4403A>G						23	SNP	c.(4402-4404)GAG>GGG	10	10		p.E1468G(1)	ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15	Broad	hypothetical protein LOC340533			73959989		0.473	ENSG00000050030	8130	g.chrX:73959989T>C	base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			126			126	-22.983786	KEEP	2	1	-1	58	70	2	1	-1	7.329686	58	70	0.024793	1	0	0	0	0	1	0	0	0	--	--		0	C				152	GBM-14-4157-TP	p.E1468G	T	CTGTTCTCGCTCCATGTGCTT	NM_001008537	NP_001008537	73959989	Q5QGS0	K2022_HUMAN	0			3	5020	-	C	C			Missense_Mutation	1468						
KIAA2022	0	broad.mit.edu	GRCh37	X	73963402	73963402	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-1838-01	TCGA-27-1838-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000055682.6:c.990G>A	p.Gln330=	p.Q330=	ENST00000055682	NM_001008537.2	330	caG/caA	0			1			T	Q	uc004eby.2	protein_coding	YES	CCDS35337.1			990/4551									ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15	c.(988-990)CAG>CAA			hmmpanther:PTHR10322,hmmpanther:PTHR10322:SF2	hypothetical protein LOC340533				ENSP00000055682		4-Mar									COSM3406595	4-Mar	.		ENST00000055682	Transcript	1		base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	ENSG00000050030	g.chrX:73963402C>T	29433			LOW								--	--	1																																			1	1			p.Q330Q	NM_001008537	NP_001008537			1	K2022_HUMAN	KIAA2022	HGNC	Q5QGS0	K2022_HUMAN					3	1607	-			UPI00001C207B	330					SNV	KIAA2022,synonymous_variant,p.=,ENST00000055682,NM_001008537.2;KIAA2022,upstream_gene_variant,,ENST00000424929,;	uc004eby.2	c.990G>A	1602/11719	2	2			c.990G>A						23	SNP	c.(988-990)CAG>CAA	30	30			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15	Broad	hypothetical protein LOC340533			73963402		0.448	ENSG00000050030	8130	g.chrX:73963402C>T	base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			126			126	-77.912881	KEEP	5	2	-1	186	192	5	2	-1	12.58726	186	192	0.02	1	0	0	0	0	0	0	1	0	--	--		0	T				197	GBM-27-1838-TP	p.Q330Q	C	GGGCATCTTCCTGCATCAAAA	NM_001008537	NP_001008537	73963402	Q5QGS0	K2022_HUMAN	0			3	1607	-	T	T			Silent	330						
KIAA2022	0	broad.mit.edu	GRCh37	X	73962950	73962950	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5213-01	TCGA-28-5213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000055682.6:c.1442G>A	p.Arg481Gln	p.R481Q	ENST00000055682	NM_001008537.2	481	cGa/cAa	0			1			T	R/Q	uc004eby.2	protein_coding	YES	CCDS35337.1			1442/4551									ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15	c.(1441-1443)CGA>CAA			hmmpanther:PTHR10322,hmmpanther:PTHR10322:SF2	hypothetical protein LOC340533				ENSP00000055682		4-Mar									COSM3406594	4-Mar	.		ENST00000055682	Transcript	1		base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	ENSG00000050030	g.chrX:73962950C>T	29433			MODERATE		2.08	medium	getma.org/?cm=msa&ty=f&p=K2022_HUMAN&rb=1&re=1050&var=R481Q	NA	getma.org/?cm=var&var=hg19,X,73962950,C,T&fts=all	R481Q	--	--	1																																			1	1		probably_damaging(1)	p.R481Q	NM_001008537	NP_001008537		deleterious(0)	1	K2022_HUMAN	KIAA2022	HGNC	Q5QGS0	K2022_HUMAN					3	2059	-			UPI00001C207B	481					SNV	KIAA2022,missense_variant,p.Arg481Gln,ENST00000055682,NM_001008537.2;KIAA2022,upstream_gene_variant,,ENST00000424929,;	uc004eby.2	c.1442G>A	2054/11719	1	1			c.1442G>A						23	SNP	c.(1441-1443)CGA>CAA	1	1			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15	Broad	hypothetical protein LOC340533			73962950		0.453	ENSG00000050030	8130	g.chrX:73962950C>T	base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			126			126	32.083467	KEEP	4	10	-1	13	15	4	10	-1	33.513541	13	15	0.3	1	0	0	0	0	1	0	0	0	--	--		0	T				220	GBM-28-5213-TP	p.R481Q	C	TCTCTTGGCTCGCAGCCCATA	NM_001008537	NP_001008537	73962950	Q5QGS0	K2022_HUMAN	0			3	2059	-	T	T			Missense_Mutation	481						
KIAA2026	158358	broad.mit.edu	GRCh37	9	5944873	5944874	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0649-01	TCGA-06-0649-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399933.3:c.2379dup	p.Ser794IlefsTer16	p.S794Ifs*16	ENST00000399933	NM_001017969.2	793	-/A	0			1			T	-/X	uc003zjq.3	protein_coding	YES				2379-2380/6312									ovary(2)|central_nervous_system(1)	3	c.(2377-2382)AAATCGfs			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31095:SF2,hmmpanther:PTHR31095	hypothetical protein LOC158358				ENSP00000382815		8-May										8-May	.		ENST00000399933	Transcript						ENSG00000183354	g.chr9:5944873_5944874insT	23378			HIGH								--	--	1																																		KIAA2026_uc010mht.2_Intron		1			p.K793fs	NM_001017969	NP_001017969				K2026_HUMAN	KIAA2026	HGNC	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)			5	2595_2596	-		Acute lymphoblastic leukemia(23;0.158)	UPI0001533DB0	793_794					insertion	KIAA2026,frameshift_variant,p.Ser794IlefsTer16,ENST00000399933,NM_001017969.2;KIAA2026,intron_variant,,ENST00000381461,;KIAA2026,frameshift_variant,p.Ser78IlefsTer10,ENST00000540714,;	uc003zjq.3	c.2379_2380insA	2379-2380/6988	5	5			c.2379_2380insA						9	INS	c.(2377-2382)AAATCGfs	21	21			ovary(2)|central_nervous_system(1)	3	Broad	hypothetical protein LOC158358			5944874		0.307	ENSG00000183354	8131	g.chr9:5944873_5944874insT																							0.33	1	0	0	1	1	0	0	0	0	--	--		0	T			KIAA2026_uc010mht.2_Intron	62	GBM-06-0649-TP	p.K793fs	-	ACACCTACCGATTTTTTTCTAC	NM_001017969	NP_001017969	5944873	Q5HYC2	K2026_HUMAN	0		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	5	2595_2596	-	T	T		Acute lymphoblastic leukemia(23;0.158)	Frame_Shift_Ins	793_794						
KIAA2026	158358	broad.mit.edu	GRCh37	9	5988438	5988438	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399933.3:c.701G>A	p.Arg234Gln	p.R234Q	ENST00000399933	NM_001017969.2	234	cGa/cAa	0			1			T	R/Q	uc003zjq.3	protein_coding	YES				701/6312									ovary(2)|central_nervous_system(1)	3	c.(700-702)CGA>CAA			Low_complexity_(Seg):seg,hmmpanther:PTHR31095:SF2,hmmpanther:PTHR31095	hypothetical protein LOC158358				ENSP00000382815		8-Feb	8.27E-06					1.50E-05			rs772525005,COSM123963	8-Feb	.		ENST00000399933	Transcript						ENSG00000183354	g.chr9:5988438C>T	23378			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=K2026_HUMAN&rb=201&re=499&var=R234Q	NA	getma.org/?cm=var&var=hg19,9,5988438,C,T&fts=all	R234Q	--	--	1																																			0,1	1		probably_damaging(0.989)	p.R234Q	NM_001017969	NP_001017969		deleterious(0)	0,1	K2026_HUMAN	KIAA2026	HGNC	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)			2	917	-		Acute lymphoblastic leukemia(23;0.158)	UPI0001533DB0	234					SNV	KIAA2026,missense_variant,p.Arg234Gln,ENST00000399933,NM_001017969.2;KIAA2026,missense_variant,p.Arg234Gln,ENST00000381461,;KIAA2026,intron_variant,,ENST00000513355,;	uc003zjq.3	c.701G>A	701/6988	2	2			c.701G>A						9	SNP	c.(700-702)CGA>CAA	29	29			ovary(2)|central_nervous_system(1)	3	Broad	hypothetical protein LOC158358			5988438		0.423	ENSG00000183354	8131	g.chr9:5988438C>T										215.87315	KEEP	44	29	-1	9	9	44	29	-1	222.379694	9	9	0.797468	1	0	0	0	0	1	0	0	0	--	--		0	T				102	GBM-06-5858-TP	p.R234Q	C	TGCCAAACTTCGCGGTGTTGA	NM_001017969	NP_001017969	5988438	Q5HYC2	K2026_HUMAN	0		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	2	917	-	T	T		Acute lymphoblastic leukemia(23;0.158)	Missense_Mutation	234						
KIDINS220	0	broad.mit.edu	GRCh37	2	8943255	8943255	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G			TCGA-14-0790-01	TCGA-14-0790-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256707.3:c.606T>C	p.Asn202=	p.N202=	ENST00000256707	NM_020738.2	202	aaT/aaC	0			1			G	N	uc002qzc.2	protein_coding	YES	CCDS42650.1			606/5316									ovary(3)|central_nervous_system(1)	4	c.(604-606)AAT>AAC			Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24116,hmmpanther:PTHR24116:SF5,SMART_domains:SM00248,Superfamily_domains:SSF48403	kinase D-interacting substrate of 220 kDa				ENSP00000256707		30-Aug									COSM3408029,COSM3408030	30-Aug	.		ENST00000256707	Transcript			activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		ENSG00000134313	g.chr2:8943255A>G	29508			LOW								--	--	1																																		KIDINS220_uc010yiv.1_Silent_p.N11N|KIDINS220_uc002qzd.2_Silent_p.N160N|KIDINS220_uc010yiw.1_Silent_p.N203N	1,1	1			p.N202N	NM_020738	NP_065789			1,1	KDIS_HUMAN	KIDINS220	HGNC	Q9ULH0	KDIS_HUMAN			F8WAY8_HUMAN		8	788	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		UPI0000208E08	202			ANK 7.|Cytoplasmic (Potential).		SNV	KIDINS220,splice_region_variant,p.=,ENST00000256707,NM_020738.2;KIDINS220,splice_region_variant,p.=,ENST00000427284,;KIDINS220,splice_region_variant,p.=,ENST00000473731,;KIDINS220,splice_region_variant,p.=,ENST00000418530,;KIDINS220,splice_region_variant,p.=,ENST00000489024,;KIDINS220,splice_region_variant,p.=,ENST00000319688,;KIDINS220,upstream_gene_variant,,ENST00000496383,;KIDINS220,splice_region_variant,,ENST00000488729,;KIDINS220,splice_region_variant,,ENST00000471275,;	uc002qzc.2	c.606T>C	788/7361	4	4			c.606T>C						2	SNP	c.(604-606)AAT>AAC	32	32			ovary(3)|central_nervous_system(1)	4	Broad	kinase D-interacting substrate of 220 kDa			8943255		0.299	ENSG00000134313	8132	g.chr2:8943255A>G	activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane								97.927761	KEEP	13	16	-1	9	19	13	16	-1	97.997307	9	19	0.54	1	0	0	0	0	0	0	1	0	--	--		0	G			KIDINS220_uc010yiv.1_Silent_p.N11N|KIDINS220_uc002qzd.2_Silent_p.N160N|KIDINS220_uc010yiw.1_Silent_p.N203N	137	GBM-14-0790-TP	p.N202N	A	CAGTCATTGAATTCTAAAAAC	NM_020738	NP_065789	8943255	Q9ULH0	KDIS_HUMAN	0			8	788	-	G	G	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		Silent	202			ANK 7.|Cytoplasmic (Potential).			
KIDINS220	0	broad.mit.edu	GRCh37	2	8872006	8872006	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-2629-01	TCGA-19-2629-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256707.3:c.4160A>G	p.Tyr1387Cys	p.Y1387C	ENST00000256707	NM_020738.2	1387	tAt/tGt	0			1			C	Y/C	uc002qzc.2	protein_coding	YES	CCDS42650.1			4160/5316									ovary(3)|central_nervous_system(1)	4	c.(4159-4161)TAT>TGT			hmmpanther:PTHR24116,hmmpanther:PTHR24116:SF5	kinase D-interacting substrate of 220 kDa				ENSP00000256707		30/30									COSM2156362	30/30	.		ENST00000256707	Transcript			activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		ENSG00000134313	g.chr2:8872006T>C	29508			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=KDIS_HUMAN&rb=1354&re=1553&var=Y1387C	NA	getma.org/?cm=var&var=hg19,2,8872006,T,C&fts=all	Y1387C	--	--	1																																		KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.Y1288C|KIDINS220_uc002qzb.2_Missense_Mutation_p.Y241C	1	1		probably_damaging(0.999)	p.Y1387C	NM_020738	NP_065789		deleterious_low_confidence(0)	1	KDIS_HUMAN	KIDINS220	HGNC	Q9ULH0	KDIS_HUMAN			F8WAY8_HUMAN		30	4342	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		UPI0000208E08	1387			Cytoplasmic (Potential).		SNV	KIDINS220,missense_variant,p.Tyr1387Cys,ENST00000256707,NM_020738.2;KIDINS220,missense_variant,p.Tyr1368Cys,ENST00000427284,;KIDINS220,missense_variant,p.Tyr1368Cys,ENST00000473731,;KIDINS220,missense_variant,p.Tyr1288Cys,ENST00000418530,;KIDINS220,intron_variant,,ENST00000496383,;KIDINS220,downstream_gene_variant,,ENST00000489024,;KIDINS220,upstream_gene_variant,,ENST00000436566,;KIDINS220,3_prime_UTR_variant,,ENST00000488729,;KIDINS220,downstream_gene_variant,,ENST00000471685,;	uc002qzc.2	c.4160A>G	4342/7361	3	3			c.4160A>G						2	SNP	c.(4159-4161)TAT>TGT	9	9			ovary(3)|central_nervous_system(1)	4	Broad	kinase D-interacting substrate of 220 kDa			8872006		0.463	ENSG00000134313	8132	g.chr2:8872006T>C	activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane								362.067736	KEEP	47	63	-1	94	101	47	63	-1	366.667929	94	101	0.363958	1	0	0	0	0	1	0	0	0	--	--		0	C			KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.Y1288C|KIDINS220_uc002qzb.2_Missense_Mutation_p.Y241C	166	GBM-19-2629-TP	p.Y1387C	T	GTATTCTCTATAGGCATCTCT	NM_020738	NP_065789	8872006	Q9ULH0	KDIS_HUMAN	0			30	4342	-	C	C	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		Missense_Mutation	1387			Cytoplasmic (Potential).			
KIF12	0	broad.mit.edu	GRCh37	9	116858751	116858751	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-1043-01	TCGA-14-1043-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374118.3:c.240C>T	p.Ser80=	p.S80=	ENST00000374118	NM_138424.1	80	agC/agT	0			1			A	S	uc004bif.2	protein_coding	YES	CCDS6801.1			240/1542										0	c.(238-240)AGC>AGT			Gene3D:3.40.850.10,Pfam_domain:PF00225,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF156,SMART_domains:SM00129,Superfamily_domains:SSF52540	kinesin family member 12				ENSP00000363232		16-May									COSM3413289,COSM3413290	16-May	.		ENST00000374118	Transcript			microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	ENSG00000136883	g.chr9:116858751G>A	21495			LOW								--	--	1																																		KIF12_uc004big.2_RNA	1,1	1			p.S80S	NM_138424	NP_612433			1,1	KIF12_HUMAN	KIF12	HGNC	Q96FN5	KIF12_HUMAN			B1ALC3_HUMAN		5	478	-			UPI00000729C3	213			Kinesin-motor.		SNV	KIF12,synonymous_variant,p.=,ENST00000374118,NM_138424.1;KIF12,non_coding_transcript_exon_variant,,ENST00000473174,;KIF12,upstream_gene_variant,,ENST00000498016,;KIF12,downstream_gene_variant,,ENST00000491059,;KIF12,synonymous_variant,p.=,ENST00000468460,;	uc004bif.2	c.240C>T	478/2003	1	1			c.240C>T						9	SNP	c.(238-240)AGC>AGT	64	64				0	Broad	kinesin family member 12			116858751		0.318	ENSG00000136883	8134	g.chr9:116858751G>A	microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity							6.516582	KEEP	1	2	-1	4	9	1	2	-1	7.572633	4	9	0.214286	1	0	0	0	0	0	0	1	0	--	--		0	A			KIF12_uc004big.2_RNA	143	GBM-14-1043-TP	p.S80S	G	TCCTTCGACGGCTGAGAcctg	NM_138424	NP_612433	116858751	Q96FN5	KIF12_HUMAN	0			5	478	-	A	A			Silent	213			Kinesin-motor.			
KIF13A	63971	broad.mit.edu	GRCh37	6	17837205	17837205	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259711.6:c.1059G>A	p.Val353=	p.V353=	ENST00000259711	NM_022113.5	353	gtG/gtA	0			1			T	V	uc003ncg.3	protein_coding	YES	CCDS47381.1			1059/5418									large_intestine(2)|ovary(2)	4	c.(1057-1059)GTG>GTA			Superfamily_domains:SSF52540,SMART_domains:SM00129,Gene3D:3.40.850.10,hmmpanther:PTHR24115:SF289,hmmpanther:PTHR24115	kinesin family member 13A isoform a				ENSP00000259711		Nov-39	8.27E-06					1.50E-05			rs775317214,COSM3410823,COSM3410821,COSM3410822	Nov-39	.		ENST00000259711	Transcript			cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	ENSG00000137177	g.chr6:17837205C>T	14566			LOW								--	--	1																																		KIF13A_uc003ncf.2_Silent_p.V353V|KIF13A_uc003nch.3_Silent_p.V353V|KIF13A_uc003nci.3_Silent_p.V353V|KIF13A_uc003ncj.2_Silent_p.V29V	0,1,1,1	1			p.V353V	NM_022113	NP_071396			0,1,1,1	KI13A_HUMAN	KIF13A	HGNC	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)				11	1164	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	UPI0000E20DA3	353					SNV	KIF13A,synonymous_variant,p.=,ENST00000378814,NM_001105568.2;KIF13A,synonymous_variant,p.=,ENST00000259711,NM_022113.5;KIF13A,synonymous_variant,p.=,ENST00000378816,;KIF13A,synonymous_variant,p.=,ENST00000378826,NM_001105566.2;KIF13A,synonymous_variant,p.=,ENST00000378843,NM_001105567.2;	uc003ncg.3	c.1059G>A	1165/5941	2	2			c.1059G>A						6	SNP	c.(1057-1059)GTG>GTA	18	18			large_intestine(2)|ovary(2)	4	Broad	kinesin family member 13A isoform a			17837205		0.502	ENSG00000137177	8135	g.chr6:17837205C>T	cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding							-137.590845	KEEP	3	4	-1	291	322	3	4	-1	9.929038	291	322	0.012868	1	0	0	0	0	0	0	1	0	--	--		0	T			KIF13A_uc003ncf.2_Silent_p.V353V|KIF13A_uc003nch.3_Silent_p.V353V|KIF13A_uc003nci.3_Silent_p.V353V|KIF13A_uc003ncj.2_Silent_p.V29V	5	GBM-02-2470-TP	p.V353V	C	CAGCATGGTTCACAATCCTTT	NM_022113	NP_071396	17837205	Q9H1H9	KI13A_HUMAN	0	all cancers(50;0.0865)|Epithelial(50;0.0974)		11	1164	-	T	T	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	Silent	353						
KIF13A	63971	broad.mit.edu	GRCh37	6	17804730	17804730	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-0210-01	TCGA-06-0210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259711.6:c.2316C>A	p.Leu772=	p.L772=	ENST00000259711	NM_022113.5	772	ctC/ctA	0			1			T	L	uc003ncg.3	protein_coding	YES	CCDS47381.1			2316/5418									large_intestine(2)|ovary(2)	4	c.(2314-2316)CTC>CTA			Pfam_domain:PF12423,hmmpanther:PTHR24115:SF289,hmmpanther:PTHR24115	kinesin family member 13A isoform a				ENSP00000259711		20/39									COSM3410811,COSM3410809,COSM3410810	20/39	.		ENST00000259711	Transcript			cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	ENSG00000137177	g.chr6:17804730G>T	14566			LOW								--	--	1																																		KIF13A_uc003ncf.2_Silent_p.L772L|KIF13A_uc003nch.3_Silent_p.L772L|KIF13A_uc003nci.3_Silent_p.L772L	1,1,1	1			p.L772L	NM_022113	NP_071396			1,1,1	KI13A_HUMAN	KIF13A	HGNC	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)				20	2421	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	UPI0000E20DA3	772			Potential.		SNV	KIF13A,synonymous_variant,p.=,ENST00000378814,NM_001105568.2;KIF13A,synonymous_variant,p.=,ENST00000259711,NM_022113.5;KIF13A,synonymous_variant,p.=,ENST00000378816,;KIF13A,synonymous_variant,p.=,ENST00000378826,NM_001105566.2;KIF13A,synonymous_variant,p.=,ENST00000378843,NM_001105567.2;KIF13A,synonymous_variant,p.=,ENST00000358380,;	uc003ncg.3	c.2316C>A	2422/5941	2	2			c.2316C>A						6	SNP	c.(2314-2316)CTC>CTA	26	26			large_intestine(2)|ovary(2)	4	Broad	kinesin family member 13A isoform a			17804730		0.393	ENSG00000137177	8135	g.chr6:17804730G>T	cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding							10.996466	KEEP	1	3	0.25	4	6	1	3	0.25	11.176647	4	6	0.363636	1	0	0	0	0	0	0	1	0	--	--		0	T			KIF13A_uc003ncf.2_Silent_p.L772L|KIF13A_uc003nch.3_Silent_p.L772L|KIF13A_uc003nci.3_Silent_p.L772L	47	GBM-06-0210-TP	p.L772L	G	GTTTTCCGTAGAGTCTCTTTG	NM_022113	NP_071396	17804730	Q9H1H9	KI13A_HUMAN	0	all cancers(50;0.0865)|Epithelial(50;0.0974)		20	2421	-	T	T	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	Silent	772			Potential.			
KIF13A	63971	broad.mit.edu	GRCh37	6	17826293	17826293	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0649-01	TCGA-06-0649-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259711.6:c.1595T>C	p.Leu532Pro	p.L532P	ENST00000259711	NM_022113.5	532	cTa/cCa	0			1			G	L/P	uc003ncg.3	protein_coding	YES	CCDS47381.1			1595/5418									large_intestine(2)|ovary(2)	4	c.(1594-1596)CTA>CCA			Superfamily_domains:SSF49879,Pfam_domain:PF00498,Gene3D:2.60.200.20,hmmpanther:PTHR24115:SF289,hmmpanther:PTHR24115	kinesin family member 13A isoform a				ENSP00000259711		15/39									COSM3410817,COSM3410815,COSM3410816	15/39	.		ENST00000259711	Transcript			cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	ENSG00000137177	g.chr6:17826293A>G	14566			MODERATE		2.85	medium	getma.org/?cm=msa&ty=f&p=KI13A_HUMAN&rb=470&re=534&var=L532P	getma.org/pdb.php?prot=KI13A_HUMAN&from=470&to=534&var=L532P	getma.org/?cm=var&var=hg19,6,17826293,A,G&fts=all	L532P	--	--	1																																		KIF13A_uc003ncf.2_Missense_Mutation_p.L532P|KIF13A_uc003nch.3_Missense_Mutation_p.L532P|KIF13A_uc003nci.3_Missense_Mutation_p.L532P|KIF13A_uc003ncj.2_Missense_Mutation_p.L208P	1,1,1	1		probably_damaging(1)	p.L532P	NM_022113	NP_071396		deleterious(0)	1,1,1	KI13A_HUMAN	KIF13A	HGNC	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)				15	1700	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	UPI0000E20DA3	532					SNV	KIF13A,missense_variant,p.Leu532Pro,ENST00000378814,NM_001105568.2;KIF13A,missense_variant,p.Leu532Pro,ENST00000259711,NM_022113.5;KIF13A,missense_variant,p.Leu532Pro,ENST00000378816,;KIF13A,missense_variant,p.Leu532Pro,ENST00000378826,NM_001105566.2;KIF13A,missense_variant,p.Leu532Pro,ENST00000378843,NM_001105567.2;	uc003ncg.3	c.1595T>C	1701/5941	3	3			c.1595T>C						6	SNP	c.(1594-1596)CTA>CCA	53	53			large_intestine(2)|ovary(2)	4	Broad	kinesin family member 13A isoform a			17826293		0.398	ENSG00000137177	8135	g.chr6:17826293A>G	cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding							36.525994	KEEP	13	4	-1	46	54	13	4	-1	47.933683	46	54	0.161905	1	0	0	0	0	1	0	0	0	--	--		0	G			KIF13A_uc003ncf.2_Missense_Mutation_p.L532P|KIF13A_uc003nch.3_Missense_Mutation_p.L532P|KIF13A_uc003nci.3_Missense_Mutation_p.L532P|KIF13A_uc003ncj.2_Missense_Mutation_p.L208P	62	GBM-06-0649-TP	p.L532P	A	ATTTCCCCATAGGATTCGGTC	NM_022113	NP_071396	17826293	Q9H1H9	KI13A_HUMAN	0	all cancers(50;0.0865)|Epithelial(50;0.0974)		15	1700	-	G	G	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	Missense_Mutation	532						
KIF13A	0	broad.mit.edu	GRCh37	6	17788096	17788097	+	frameshift_variant	Frame_Shift_Del	DEL	AA	AA	-			TCGA-27-1836-01	TCGA-27-1836-01	AA	AA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259711.6:c.3271_3272delTT	p.Leu1091LysfsTer13	p.L1091Kfs*13	ENST00000259711	NM_022113.5	1091	TTa/a	0			1			-	L/X	uc003ncg.3	protein_coding	YES	CCDS47381.1			3271-3272/5418									large_intestine(2)|ovary(2)	4	c.(3271-3273)TTAfs			hmmpanther:PTHR24115:SF289,hmmpanther:PTHR24115	kinesin family member 13A isoform a				ENSP00000259711		27/39										27/39	.		ENST00000259711	Transcript			cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	ENSG00000137177	g.chr6:17788096_17788097delAA	14566			HIGH								--	--	1																																		KIF13A_uc003ncf.2_Frame_Shift_Del_p.L1078fs|KIF13A_uc003nch.3_Frame_Shift_Del_p.L1091fs|KIF13A_uc003nci.3_Frame_Shift_Del_p.L1078fs		1			p.L1091fs	NM_022113	NP_071396				KI13A_HUMAN	KIF13A	HGNC	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)				27	3376_3377	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	UPI0000E20DA3	1091					deletion	KIF13A,frameshift_variant,p.Leu1078LysfsTer13,ENST00000378814,NM_001105568.2;KIF13A,frameshift_variant,p.Leu1091LysfsTer13,ENST00000259711,NM_022113.5;KIF13A,frameshift_variant,p.Leu1091LysfsTer13,ENST00000378816,;KIF13A,frameshift_variant,p.Leu1091LysfsTer13,ENST00000378826,NM_001105566.2;KIF13A,frameshift_variant,p.Leu1078LysfsTer13,ENST00000378843,NM_001105567.2;KIF13A,frameshift_variant,p.Leu485LysfsTer13,ENST00000358380,;KIF13A,frameshift_variant,p.Leu95LysfsTer13,ENST00000502297,;KIF13A,frameshift_variant,p.Leu89LysfsTer13,ENST00000506044,;KIF13A,non_coding_transcript_exon_variant,,ENST00000514714,;	uc003ncg.3	c.3271_3272delTT	3377-3378/5941	5	5			c.3271_3272delTT						6	DEL	c.(3271-3273)TTAfs	36	36			large_intestine(2)|ovary(2)	4	Broad	kinesin family member 13A isoform a			17788097		0.366	ENSG00000137177	8135	g.chr6:17788096_17788097delAA	cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding																				0.24	1	1	0	1	0	0	0	0	0	--	--		0	-			KIF13A_uc003ncf.2_Frame_Shift_Del_p.L1078fs|KIF13A_uc003nch.3_Frame_Shift_Del_p.L1091fs|KIF13A_uc003nci.3_Frame_Shift_Del_p.L1078fs	195	GBM-27-1836-TP	p.L1091fs	AA	TACGCAGTTTAAGTCTTCTTCC	NM_022113	NP_071396	17788096	Q9H1H9	KI13A_HUMAN	0	all cancers(50;0.0865)|Epithelial(50;0.0974)		27	3376_3377	-	-	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	Frame_Shift_Del	1091						
KIF13A	0	broad.mit.edu	GRCh37	6	17779855	17779855	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259711.6:c.3907G>A	p.Val1303Ile	p.V1303I	ENST00000259711	NM_022113.5	1303	Gta/Ata	0			1			T	V/I	uc003ncg.3	protein_coding	YES	CCDS47381.1			3907/5418									large_intestine(2)|ovary(2)	4	c.(3907-3909)GTA>ATA			hmmpanther:PTHR24115:SF289,hmmpanther:PTHR24115	kinesin family member 13A isoform a				ENSP00000259711		32/39									COSM3410805,COSM3410803,COSM3410804	32/39	.		ENST00000259711	Transcript			cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	ENSG00000137177	g.chr6:17779855C>T	14566			MODERATE		2.195	medium	getma.org/?cm=msa&ty=f&p=KI13A_HUMAN&rb=1285&re=1484&var=V1303I	NA	getma.org/?cm=var&var=hg19,6,17779855,C,T&fts=all	V1303I	--	--	1																																		KIF13A_uc003ncf.2_Missense_Mutation_p.V1290I|KIF13A_uc003nch.3_Missense_Mutation_p.V1303I|KIF13A_uc003nci.3_Missense_Mutation_p.V1290I|KIF13A_uc003nce.1_5'Flank	1,1,1	1		probably_damaging(0.992)	p.V1303I	NM_022113	NP_071396		tolerated(0.14)	1,1,1	KI13A_HUMAN	KIF13A	HGNC	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)				32	4012	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	UPI0000E20DA3	1303					SNV	KIF13A,missense_variant,p.Val1290Ile,ENST00000378814,NM_001105568.2;KIF13A,missense_variant,p.Val1303Ile,ENST00000259711,NM_022113.5;KIF13A,missense_variant,p.Val1303Ile,ENST00000378816,;KIF13A,missense_variant,p.Val1303Ile,ENST00000378826,NM_001105566.2;KIF13A,missense_variant,p.Val1290Ile,ENST00000378843,NM_001105567.2;KIF13A,missense_variant,p.Val697Ile,ENST00000358380,;KIF13A,missense_variant,p.Val307Ile,ENST00000502297,;KIF13A,downstream_gene_variant,,ENST00000506044,;	uc003ncg.3	c.3907G>A	4013/5941	2	2			c.3907G>A						6	SNP	c.(3907-3909)GTA>ATA	29	29			large_intestine(2)|ovary(2)	4	Broad	kinesin family member 13A isoform a			17779855		0.229	ENSG00000137177	8135	g.chr6:17779855C>T	cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding							-5.635945	KEEP	3	2	-1	37	35	3	2	-1	6.857585	37	35	0.063492	1	0	0	0	0	1	0	0	0	--	--		0	T			KIF13A_uc003ncf.2_Missense_Mutation_p.V1290I|KIF13A_uc003nch.3_Missense_Mutation_p.V1303I|KIF13A_uc003nci.3_Missense_Mutation_p.V1290I|KIF13A_uc003nce.1_5'Flank	230	GBM-32-1979-TP	p.V1303I	C	TCATAGGTTACACCACAGGAA	NM_022113	NP_071396	17779855	Q9H1H9	KI13A_HUMAN	0	all cancers(50;0.0865)|Epithelial(50;0.0974)		32	4012	-	T	T	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	Missense_Mutation	1303						
KIF13A	0	broad.mit.edu	GRCh37	6	17831467	17831467	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A			TCGA-32-4208-01	TCGA-32-4208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259711.6:c.1267-1G>T		p.X423_splice	ENST00000259711	NM_022113.5			0			1			A		uc003ncg.3	protein_coding	YES	CCDS47381.1			1267/5418									large_intestine(2)|ovary(2)	4	c.e13-1				kinesin family member 13A isoform a				ENSP00000259711											COSM3410820,COSM3410818,COSM3410819		.		ENST00000259711	Transcript			cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	ENSG00000137177	g.chr6:17831467C>A	14566			HIGH	Dec-38							--	--	1																																		KIF13A_uc003ncf.2_Splice_Site_p.E423_splice|KIF13A_uc003nch.3_Splice_Site_p.E423_splice|KIF13A_uc003nci.3_Splice_Site_p.E423_splice|KIF13A_uc003ncj.2_Splice_Site_p.E99_splice	1,1,1	1			p.E423_splice	NM_022113	NP_071396			1,1,1	KI13A_HUMAN	KIF13A	HGNC	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)				13	1372	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	UPI0000E20DA3						SNV	KIF13A,splice_acceptor_variant,,ENST00000378814,NM_001105568.2;KIF13A,splice_acceptor_variant,,ENST00000259711,NM_022113.5;KIF13A,splice_acceptor_variant,,ENST00000378816,;KIF13A,splice_acceptor_variant,,ENST00000378826,NM_001105566.2;KIF13A,splice_acceptor_variant,,ENST00000378843,NM_001105567.2;	uc003ncg.3	c.1267_splice	-/5941	5	1			c.1267_splice						6	SNP	c.e13-1	64	64			large_intestine(2)|ovary(2)	4	Broad	kinesin family member 13A isoform a			17831467		0.438	ENSG00000137177	8135	g.chr6:17831467C>A	cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding							-29.110625	KEEP	2	2	0.5	82	84	2	2	0.5	7.321316	82	84	0.021127	1	0	0	0	0	0	0	0	1	--	--		0	A			KIF13A_uc003ncf.2_Splice_Site_p.E423_splice|KIF13A_uc003nch.3_Splice_Site_p.E423_splice|KIF13A_uc003nci.3_Splice_Site_p.E423_splice|KIF13A_uc003ncj.2_Splice_Site_p.E99_splice	243	GBM-32-4208-TP	p.E423_splice	C	GTTGTCTTTCCTGTGCACAAA	NM_022113	NP_071396	17831467	Q9H1H9	KI13A_HUMAN	0	all cancers(50;0.0865)|Epithelial(50;0.0974)		13	1372	-	A	A	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	Splice_Site							
KIF13A	0	broad.mit.edu	GRCh37	6	17800257	17800257	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-32-4211-01	TCGA-32-4211-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259711.6:c.2542A>C	p.Ser848Arg	p.S848R	ENST00000259711	NM_022113.5	848	Agt/Cgt	0			1			G	S/R	uc003ncg.3	protein_coding	YES	CCDS47381.1			2542/5418									large_intestine(2)|ovary(2)	4	c.(2542-2544)AGT>CGT			Low_complexity_(Seg):seg,hmmpanther:PTHR24115:SF289,hmmpanther:PTHR24115	kinesin family member 13A isoform a				ENSP00000259711		21/39									COSM3410808,COSM3410806,COSM3410807	21/39	.		ENST00000259711	Transcript			cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	ENSG00000137177	g.chr6:17800257T>G	14566			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=KI13A_HUMAN&rb=793&re=992&var=S848R	NA	getma.org/?cm=var&var=hg19,6,17800257,T,G&fts=all	S848R	--	--	1																																		KIF13A_uc003ncf.2_Missense_Mutation_p.S848R|KIF13A_uc003nch.3_Missense_Mutation_p.S848R|KIF13A_uc003nci.3_Missense_Mutation_p.S848R	1,1,1	1		possibly_damaging(0.703)	p.S848R	NM_022113	NP_071396		tolerated(0.06)	1,1,1	KI13A_HUMAN	KIF13A	HGNC	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)				21	2647	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	UPI0000E20DA3	848					SNV	KIF13A,missense_variant,p.Ser848Arg,ENST00000378814,NM_001105568.2;KIF13A,missense_variant,p.Ser848Arg,ENST00000259711,NM_022113.5;KIF13A,missense_variant,p.Ser848Arg,ENST00000378816,;KIF13A,missense_variant,p.Ser848Arg,ENST00000378826,NM_001105566.2;KIF13A,missense_variant,p.Ser848Arg,ENST00000378843,NM_001105567.2;KIF13A,missense_variant,p.Ser242Arg,ENST00000358380,;KIF13A,upstream_gene_variant,,ENST00000506044,;KIF13A,upstream_gene_variant,,ENST00000514714,;	uc003ncg.3	c.2542A>C	2648/5941	3	3			c.2542A>C						6	SNP	c.(2542-2544)AGT>CGT	12	12			large_intestine(2)|ovary(2)	4	Broad	kinesin family member 13A isoform a			17800257		0.537	ENSG00000137177	8135	g.chr6:17800257T>G	cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding							-40.97954	KEEP	2	10	-1	125	163	2	10	-1	23.130565	125	163	0.036364	1	0	0	0	0	1	0	0	0	--	--		0	G			KIF13A_uc003ncf.2_Missense_Mutation_p.S848R|KIF13A_uc003nch.3_Missense_Mutation_p.S848R|KIF13A_uc003nci.3_Missense_Mutation_p.S848R	246	GBM-32-4211-TP	p.S848R	T	CCACTTTCACTGGAATTCTCC	NM_022113	NP_071396	17800257	Q9H1H9	KI13A_HUMAN	0	all cancers(50;0.0865)|Epithelial(50;0.0974)		21	2647	-	G	G	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	Missense_Mutation	848						
KIF13A	0	broad.mit.edu	GRCh37	6	17805708	17805708	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A			TCGA-74-6573-01	TCGA-74-6573-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259711.6:c.2302G>T	p.Glu768Ter	p.E768*	ENST00000259711	NM_022113.5	768	Gag/Tag	0			1			A	E/*	uc003ncg.3	protein_coding	YES	CCDS47381.1			2302/5418									large_intestine(2)|ovary(2)	4	c.(2302-2304)GAG>TAG			Pfam_domain:PF12423,hmmpanther:PTHR24115:SF289,hmmpanther:PTHR24115	kinesin family member 13A isoform a				ENSP00000259711		19/39									COSM3410814,COSM3410812,COSM3410813	19/39	.		ENST00000259711	Transcript			cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	ENSG00000137177	g.chr6:17805708C>A	14566			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,6,17805708,C,A&fts=all	E768*	--	--	1																																		KIF13A_uc003ncf.2_Nonsense_Mutation_p.E768*|KIF13A_uc003nch.3_Nonsense_Mutation_p.E768*|KIF13A_uc003nci.3_Nonsense_Mutation_p.E768*	1,1,1	1			p.E768*	NM_022113	NP_071396			1,1,1	KI13A_HUMAN	KIF13A	HGNC	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)				19	2407	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	UPI0000E20DA3	768			Potential.		SNV	KIF13A,stop_gained,p.Glu768Ter,ENST00000378814,NM_001105568.2;KIF13A,stop_gained,p.Glu768Ter,ENST00000259711,NM_022113.5;KIF13A,stop_gained,p.Glu768Ter,ENST00000378816,;KIF13A,stop_gained,p.Glu768Ter,ENST00000378826,NM_001105566.2;KIF13A,stop_gained,p.Glu768Ter,ENST00000378843,NM_001105567.2;KIF13A,stop_gained,p.Glu162Ter,ENST00000358380,;	uc003ncg.3	c.2302G>T	2408/5941	5	2			c.2302G>T						6	SNP	c.(2302-2304)GAG>TAG	21	21			large_intestine(2)|ovary(2)	4	Broad	kinesin family member 13A isoform a			17805708		0.303	ENSG00000137177	8135	g.chr6:17805708C>A	cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding							22.95324	KEEP	8	7	0.466666667	39	27	8	7	0.466666667	29.882397	39	27	0.173913	1	0	0	0	0	0	1	0	0	--	--		0	A			KIF13A_uc003ncf.2_Nonsense_Mutation_p.E768*|KIF13A_uc003nch.3_Nonsense_Mutation_p.E768*|KIF13A_uc003nci.3_Nonsense_Mutation_p.E768*	260	GBM-74-6573-TP	p.E768*	C	TCTTTTACCTCAGGAACTTTT	NM_022113	NP_071396	17805708	Q9H1H9	KI13A_HUMAN	0	all cancers(50;0.0865)|Epithelial(50;0.0974)		19	2407	-	A	A	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	Nonsense_Mutation	768			Potential.			
KIF15	0	broad.mit.edu	GRCh37	3	44882590	44882590	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-26-5134-01	TCGA-26-5134-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326047.4:c.3445C>G	p.Gln1149Glu	p.Q1149E	ENST00000326047	NM_020242.2	1149	Caa/Gaa	0			1			G	Q/E	uc003cnx.3	protein_coding	YES	CCDS33744.1			3445/4167									ovary(1)	1	c.(3445-3447)CAA>GAA			hmmpanther:PTHR24115:SF87,hmmpanther:PTHR24115	kinesin family member 15				ENSP00000324020		29/35									COSM2157003	29/35	.		ENST00000326047	Transcript			blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	ENSG00000163808	g.chr3:44882590C>G	17273			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=KIF15_HUMAN&rb=1051&re=1179&var=Q1149E	NA	getma.org/?cm=var&var=hg19,3,44882590,C,G&fts=all	Q1149E	--	--	1																																		KIF15_uc010hiq.2_Missense_Mutation_p.Q1052E|KIF15_uc010hir.2_Missense_Mutation_p.Q197E	1	1		benign(0.137)	p.Q1149E	NM_020242	NP_064627		tolerated(0.8)	1	KIF15_HUMAN	KIF15	HGNC	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	D6RCT7_HUMAN		29	3594	+			UPI000006DB0E	1149			Potential.		SNV	KIF15,missense_variant,p.Gln1149Glu,ENST00000326047,NM_020242.2;KIF15,missense_variant,p.Gln784Glu,ENST00000425755,;KIF15,3_prime_UTR_variant,,ENST00000438321,;KIF15,3_prime_UTR_variant,,ENST00000453693,;KIF15,upstream_gene_variant,,ENST00000422209,;	uc003cnx.3	c.3445C>G	3594/4842	3	3			c.3445C>G						3	SNP	c.(3445-3447)CAA>GAA	11	11			ovary(1)	1	Broad	kinesin family member 15			44882590		0.333	ENSG00000163808	8138	g.chr3:44882590C>G	blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity							155.490129	KEEP	18	28	-1	29	40	18	28	-1	156.17393	29	40	0.413462	1	0	0	0	0	1	0	0	0	--	--		0	G			KIF15_uc010hiq.2_Missense_Mutation_p.Q1052E|KIF15_uc010hir.2_Missense_Mutation_p.Q197E	183	GBM-26-5134-TP	p.Q1149E	C	ACCTCACTTTCAAACACATTT	NM_020242	NP_064627	44882590	Q9NS87	KIF15_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	29	3594	+	G	G			Missense_Mutation	1149			Potential.			
KIF16B	55614	broad.mit.edu	GRCh37	20	16506810	16506810	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-02-2470-01	TCGA-02-2470-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408042.1:c.158C>G	p.Thr53Ser	p.T53S	ENST00000408042	NM_001199866.1	53	aCc/aGc	0			1			C	T/S	uc002wpg.1	protein_coding		CCDS13122.1			158/3954									skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8	c.(157-159)ACC>AGC			PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF400,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540	kinesin-like motor protein C20orf23				ENSP00000347076		26-Mar									COSM3404954,COSM3404953	26-Mar	.		ENST00000354981	Transcript			cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	ENSG00000089177	g.chr20:16506810G>C	15869			MODERATE		0.03	neutral	getma.org/?cm=msa&ty=f&p=KI16B_HUMAN&rb=9&re=358&var=T53S	getma.org/pdb.php?prot=KI16B_HUMAN&from=9&to=358&var=T53S	getma.org/?cm=var&var=hg19,20,16506810,G,C&fts=all	T53S	--	--	1																																		KIF16B_uc010gch.1_Missense_Mutation_p.T53S|KIF16B_uc010gci.1_Missense_Mutation_p.T53S|KIF16B_uc010gcj.1_Missense_Mutation_p.T53S	1,1			benign(0.328)	p.T53S	NM_024704	NP_078980		tolerated(0.37)	1,1	KI16B_HUMAN	KIF16B	HGNC	Q96L93	KI16B_HUMAN					3	316	-			UPI0000206A5A	53			Kinesin-motor.		SNV	KIF16B,missense_variant,p.Thr53Ser,ENST00000354981,NM_024704.4,NM_001199865.1;KIF16B,missense_variant,p.Thr53Ser,ENST00000355755,;KIF16B,missense_variant,p.Thr53Ser,ENST00000408042,NM_001199866.1;KIF16B,5_prime_UTR_variant,,ENST00000378003,;	uc002wpg.1	c.158C>G	316/5261	3	3			c.158C>G						20	SNP	c.(157-159)ACC>AGC	6	6			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8	Broad	kinesin-like motor protein C20orf23			16506810		0.353	ENSG00000089177	8139	g.chr20:16506810G>C	cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity							-48.953698	KEEP	7	2	-1	140	144	7	2	-1	13.975332	140	144	0.024	1	0	0	0	0	1	0	0	0	--	--		0	C			KIF16B_uc010gch.1_Missense_Mutation_p.T53S|KIF16B_uc010gci.1_Missense_Mutation_p.T53S|KIF16B_uc010gcj.1_Missense_Mutation_p.T53S	5	GBM-02-2470-TP	p.T53S	G	GAAGGTCTTGGTCCGTTCTCT	NM_024704	NP_078980	16506810	Q96L93	KI16B_HUMAN	0			3	316	-	C	C			Missense_Mutation	53			Kinesin-motor.			
KIF16B	55614	broad.mit.edu	GRCh37	20	16496298	16496298	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0130-01	TCGA-06-0130-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408042.1:c.243C>T	p.Thr81=	p.T81=	ENST00000408042	NM_001199866.1	81	acC/acT	0			1			A	T	uc002wpg.1	protein_coding		CCDS13122.1			243/3954									skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8	c.(241-243)ACC>ACT			PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF400,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540	kinesin-like motor protein C20orf23				ENSP00000347076		26-Apr	8.24E-06					1.52E-05			rs751948015,COSM3404952,COSM3404951	26-Apr	.		ENST00000354981	Transcript			cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	ENSG00000089177	g.chr20:16496298G>A	15869			LOW								--	--	1																																		KIF16B_uc010gch.1_Silent_p.T81T|KIF16B_uc010gci.1_Silent_p.T81T|KIF16B_uc010gcj.1_Silent_p.T81T	0,1,1				p.T81T	NM_024704	NP_078980			0,1,1	KI16B_HUMAN	KIF16B	HGNC	Q96L93	KI16B_HUMAN					4	401	-			UPI0000206A5A	81			Kinesin-motor.		SNV	KIF16B,synonymous_variant,p.=,ENST00000354981,NM_024704.4,NM_001199865.1;KIF16B,synonymous_variant,p.=,ENST00000355755,;KIF16B,synonymous_variant,p.=,ENST00000408042,NM_001199866.1;KIF16B,5_prime_UTR_variant,,ENST00000378003,;	uc002wpg.1	c.243C>T	401/5261	2	2			c.243C>T						20	SNP	c.(241-243)ACC>ACT	21	21			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8	Broad	kinesin-like motor protein C20orf23			16496298		0.373	ENSG00000089177	8139	g.chr20:16496298G>A	cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity							13.01998	KEEP	4	6	-1	42	30	4	6	-1	24.382527	42	30	0.115385	1	0	0	0	0	0	0	1	0	--	--		0	A			KIF16B_uc010gch.1_Silent_p.T81T|KIF16B_uc010gci.1_Silent_p.T81T|KIF16B_uc010gcj.1_Silent_p.T81T	16	GBM-06-0130-TP	p.T81T	G	CTGTGCCGAGGGTTTTGAAAA	NM_024704	NP_078980	16496298	Q96L93	KI16B_HUMAN	0			4	401	-	A	A			Silent	81			Kinesin-motor.			
KIF16B	55614	broad.mit.edu	GRCh37	20	16337022	16337022	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5411-01	TCGA-06-5411-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354981.2:c.3574G>A	p.Val1192Ile	p.V1192I	ENST00000354981	NM_024704.4	1192	Gtc/Atc	0			1			T	V/I	uc002wpg.1	protein_coding		CCDS13122.1			3574/3954									skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8	c.(3574-3576)GTC>ATC			PROSITE_profiles:PS50195,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF400,Gene3D:3.30.1520.10,SMART_domains:SM00312,Superfamily_domains:SSF64268	kinesin-like motor protein C20orf23				ENSP00000347076		23/26	3.29E-05			0.000116		1.50E-05		0.000121	rs746166094,COSM3404950	23/26	.		ENST00000354981	Transcript			cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	ENSG00000089177	g.chr20:16337022C>T	15869			MODERATE		0.145	neutral	getma.org/?cm=msa&ty=f&p=KI16B_HUMAN&rb=1182&re=1281&var=V1192I	getma.org/pdb.php?prot=KI16B_HUMAN&from=1182&to=1281&var=V1192I	getma.org/?cm=var&var=hg19,20,16337022,C,T&fts=all	V1192I	--	--	1																																		KIF16B_uc002wpe.1_Missense_Mutation_p.V574I|KIF16B_uc002wpf.1_Intron|KIF16B_uc010gch.1_Missense_Mutation_p.V1141I	0,1	1		benign(0.072)	p.V1192I	NM_024704	NP_078980		tolerated(0.13)	0,1	KI16B_HUMAN	KIF16B	HGNC	Q96L93	KI16B_HUMAN					23	3732	-			UPI0000206A5A	1192			PX.		SNV	KIF16B,missense_variant,p.Val1192Ile,ENST00000354981,NM_024704.4,NM_001199865.1;KIF16B,missense_variant,p.Val1192Ile,ENST00000355755,;KIF16B,intron_variant,,ENST00000378003,;	uc002wpg.1	c.3574G>A	3732/5261	2	2			c.3574G>A						20	SNP	c.(3574-3576)GTC>ATC	42	42			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8	Broad	kinesin-like motor protein C20orf23			16337022		0.498	ENSG00000089177	8139	g.chr20:16337022C>T	cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity							8.433679	KEEP	3	3	-1	19	24	3	3	-1	14.532227	19	24	0.130435	1	0	0	0	0	1	0	0	0	--	--		0	T			KIF16B_uc002wpe.1_Missense_Mutation_p.V574I|KIF16B_uc002wpf.1_Intron|KIF16B_uc010gch.1_Missense_Mutation_p.V1141I	94	GBM-06-5411-TP	p.V1192I	C	CCGCAGAGGACGTAGCGTGGG	NM_024704	NP_078980	16337022	Q96L93	KI16B_HUMAN	0			23	3732	-	T	T			Missense_Mutation	1192			PX.			
KIF16B	55614	broad.mit.edu	GRCh37	20	16337074	16337074	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5418-01	TCGA-06-5418-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354981.2:c.3522C>T	p.Gly1174=	p.G1174=	ENST00000354981	NM_024704.4	1174	ggC/ggT	0		A:0	1	A:0.0014		A	G	uc002wpg.1	protein_coding		CCDS13122.1			3522/3954									skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8	c.(3520-3522)GGC>GGT			hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF400	kinesin-like motor protein C20orf23		A:0		ENSP00000347076	A:0	23/26	3.29E-05		8.65E-05	0.000232			0.00111		rs533447502,COSM2153327	23/26	.		ENST00000354981	Transcript		A:0.0002	cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	ENSG00000089177	g.chr20:16337074G>A	15869			LOW								--	--	1																																		KIF16B_uc002wpe.1_Silent_p.G556G|KIF16B_uc002wpf.1_Intron|KIF16B_uc010gch.1_Silent_p.G1123G	0,1	1			p.G1174G	NM_024704	NP_078980	A:0		0,1	KI16B_HUMAN	KIF16B	HGNC	Q96L93	KI16B_HUMAN					23	3680	-			UPI0000206A5A	1174					SNV	KIF16B,synonymous_variant,p.=,ENST00000354981,NM_024704.4,NM_001199865.1;KIF16B,synonymous_variant,p.=,ENST00000355755,;KIF16B,intron_variant,,ENST00000378003,;	uc002wpg.1	c.3522C>T	3680/5261	2	2			c.3522C>T						20	SNP	c.(3520-3522)GGC>GGT	41	41			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8	Broad	kinesin-like motor protein C20orf23			16337074		0.493	ENSG00000089177	8139	g.chr20:16337074G>A	cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity							94.938825	KEEP	13	27	-1	22	38	13	27	-1	95.732894	22	38	0.397727	1	0	0	0	0	0	0	1	0	--	--		0	A			KIF16B_uc002wpe.1_Silent_p.G556G|KIF16B_uc002wpf.1_Intron|KIF16B_uc010gch.1_Silent_p.G1123G	100	GBM-06-5418-TP	p.G1174G	G	CTGGATTTGCGCCCAAAGAGC	NM_024704	NP_078980	16337074	Q96L93	KI16B_HUMAN	0			23	3680	-	A	A			Silent	1174						
KIF16B	0	broad.mit.edu	GRCh37	20	16254013	16254013	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01	TCGA-41-5651-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354981.2:c.3839C>T	p.Thr1280Ile	p.T1280I	ENST00000354981	NM_024704.4	1280	aCa/aTa	0			1			A	T/I	uc002wpg.1	protein_coding		CCDS13122.1			3839/3954									skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8	c.(3838-3840)ACA>ATA			PROSITE_profiles:PS50195,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF400,SMART_domains:SM00312	kinesin-like motor protein C20orf23				ENSP00000347076		26/26									COSM3404948	26/26	.		ENST00000354981	Transcript			cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	ENSG00000089177	g.chr20:16254013G>A	15869			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=KI16B_HUMAN&rb=1182&re=1281&var=T1280I	getma.org/pdb.php?prot=KI16B_HUMAN&from=1182&to=1281&var=T1280I	getma.org/?cm=var&var=hg19,20,16254013,G,A&fts=all	T1280I	--	--	1																																		KIF16B_uc002wpe.1_Missense_Mutation_p.T632I|KIF16B_uc002wpf.1_Missense_Mutation_p.T621I|KIF16B_uc010gch.1_Missense_Mutation_p.T1229I	1	1		possibly_damaging(0.756)	p.T1280I	NM_024704	NP_078980		tolerated(0.1)	1	KI16B_HUMAN	KIF16B	HGNC	Q96L93	KI16B_HUMAN					26	3997	-			UPI0000206A5A	1280			PX.		SNV	KIF16B,missense_variant,p.Thr1280Ile,ENST00000354981,NM_024704.4,NM_001199865.1;KIF16B,missense_variant,p.Thr1250Ile,ENST00000355755,;KIF16B,missense_variant,p.Thr465Ile,ENST00000378003,;	uc002wpg.1	c.3839C>T	3997/5261	2	2			c.3839C>T						20	SNP	c.(3838-3840)ACA>ATA	20	20			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8	Broad	kinesin-like motor protein C20orf23			16254013		0.398	ENSG00000089177	8139	g.chr20:16254013G>A	cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity							82.827037	KEEP	13	19	-1	32	21	13	19	-1	83.407818	32	21	0.405405	1	0	0	0	0	1	0	0	0	--	--		0	A			KIF16B_uc002wpe.1_Missense_Mutation_p.T632I|KIF16B_uc002wpf.1_Missense_Mutation_p.T621I|KIF16B_uc010gch.1_Missense_Mutation_p.T1229I	258	GBM-41-5651-TP	p.T1280I	G	GAGGGGAGATGTTGCGGACTG	NM_024704	NP_078980	16254013	Q96L93	KI16B_HUMAN	0			26	3997	-	A	A			Missense_Mutation	1280			PX.			
KIF17	57576	broad.mit.edu	GRCh37	1	21031072	21031072	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs139912475		TCGA-06-0747-01	TCGA-06-0747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000247986.2:c.991C>T	p.Arg331Trp	p.R331W	ENST00000247986		331	Cgg/Tgg	0	A:0		1			A	R/W	uc001bdr.3	protein_coding	YES	CCDS213.1			991/3090									ovary(3)|skin(1)	4	c.(991-993)CGG>TGG			Gene3D:3.40.850.10,Pfam_domain:PF00225,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF415,SMART_domains:SM00129,Superfamily_domains:SSF52540	kinesin family member 17 isoform a			A:0.0001	ENSP00000247986		15-May	0.000239				0.000757	0.00036			rs139912475,COSM2151840	15-May	common_variant		ENST00000247986	Transcript			microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	ENSG00000117245	g.chr1:21031072G>A	19167			MODERATE		4.86	high	getma.org/?cm=msa&ty=f&p=KIF17_HUMAN&rb=11&re=335&var=R331W	getma.org/pdb.php?prot=KIF17_HUMAN&from=11&to=335&var=R331W	getma.org/?cm=var&var=hg19,1,21031072,G,A&fts=all	R331W	--	--	1																																		KIF17_uc001bds.3_Missense_Mutation_p.R331W	0,1	1		probably_damaging(1)	p.R331W	NM_020816	NP_065867		deleterious(0)	0,1	KIF17_HUMAN	KIF17	HGNC	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)			5	1109	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	UPI0000185F1A	331					SNV	KIF17,missense_variant,p.Arg331Trp,ENST00000247986,;KIF17,missense_variant,p.Arg331Trp,ENST00000400463,NM_001122819.1,NM_020816.2;KIF17,missense_variant,p.Arg231Trp,ENST00000375044,NM_001287212.1;	uc001bdr.3	c.991C>T	1302/3969	1	1			c.991C>T						1	SNP	c.(991-993)CGG>TGG	56	56			ovary(3)|skin(1)	4	Broad	kinesin family member 17 isoform a			21031072		0.597	ENSG00000117245	8140	g.chr1:21031072G>A	microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding							121.041822	KEEP	33	18	-1	57	36	33	18	-1	123.136359	57	36	0.360656	1	0	0	0	0	1	0	0	0	--	--		0	A			KIF17_uc001bds.3_Missense_Mutation_p.R331W	68	GBM-06-0747-TP	p.R331W	G	TTCTTGGCCCGGTTGGCGTAG	NM_020816	NP_065867	21031072	Q9P2E2	KIF17_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	5	1109	-	A	A		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	331						
KIF17	0	broad.mit.edu	GRCh37	1	20992723	20992723	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-1823-01	TCGA-14-1823-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000247986.2:c.2895C>T	p.Asp965=	p.D965=	ENST00000247986		965	gaC/gaT	0		A:0	1	A:0		A	D	uc001bdr.3	protein_coding	YES	CCDS213.1			2895/3090									ovary(3)|skin(1)	4	c.(2893-2895)GAC>GAT			hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF415	kinesin family member 17 isoform a		A:0		ENSP00000247986	A:0	14/15	2.47E-05					1.50E-05		0.000121	rs528089648,COSM3400269	14/15	.		ENST00000247986	Transcript		A:0.0002	microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	ENSG00000117245	g.chr1:20992723G>A	19167			LOW								--	--	1																																		KIF17_uc001bdp.3_Silent_p.D242D|KIF17_uc001bdq.3_Silent_p.D243D|KIF17_uc009vpx.2_Silent_p.D335D|KIF17_uc001bds.3_Silent_p.D964D	0,1	1			p.D965D	NM_020816	NP_065867	A:0.001		0,1	KIF17_HUMAN	KIF17	HGNC	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)			14	3013	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	UPI0000185F1A	965					SNV	KIF17,synonymous_variant,p.=,ENST00000247986,;KIF17,synonymous_variant,p.=,ENST00000400463,NM_001122819.1,NM_020816.2;KIF17,synonymous_variant,p.=,ENST00000375044,NM_001287212.1;DDOST,upstream_gene_variant,,ENST00000375048,NM_005216.4;DDOST,upstream_gene_variant,,ENST00000602624,;DDOST,upstream_gene_variant,,ENST00000415136,;DDOST,upstream_gene_variant,,ENST00000464364,;KIF17,non_coding_transcript_exon_variant,,ENST00000490034,;KIF17,non_coding_transcript_exon_variant,,ENST00000477167,;KIF17,non_coding_transcript_exon_variant,,ENST00000462858,;KIF17,downstream_gene_variant,,ENST00000498225,;DDOST,upstream_gene_variant,,ENST00000477229,;KIF17,upstream_gene_variant,,ENST00000493818,;	uc001bdr.3	c.2895C>T	3206/3969	1	1			c.2895C>T						1	SNP	c.(2893-2895)GAC>GAT	51	51			ovary(3)|skin(1)	4	Broad	kinesin family member 17 isoform a			20992723		0.517	ENSG00000117245	8140	g.chr1:20992723G>A	microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding							105.514317	KEEP	37	17	-1	103	58	37	17	-1	115.167572	103	58	0.252874	1	0	0	0	0	0	0	1	0	--	--		0	A			KIF17_uc001bdp.3_Silent_p.D242D|KIF17_uc001bdq.3_Silent_p.D243D|KIF17_uc009vpx.2_Silent_p.D335D|KIF17_uc001bds.3_Silent_p.D964D	147	GBM-14-1823-TP	p.D965D	G	TCTTCCTGGCGTCTGTGCTGA	NM_020816	NP_065867	20992723	Q9P2E2	KIF17_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	14	3013	-	A	A		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	Silent	965						
KIF17	0	broad.mit.edu	GRCh37	1	21009246	21009246	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01	TCGA-19-5951-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000247986.2:c.2363C>T	p.Ser788Leu	p.S788L	ENST00000247986		788	tCg/tTg	0	A:0		1			A	S/L	uc001bdr.3	protein_coding	YES	CCDS213.1			2363/3090									ovary(3)|skin(1)	4	c.(2362-2364)TCG>TTG			hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF415	kinesin family member 17 isoform a			A:0.0001	ENSP00000247986		15-Nov	4.94E-05					9.00E-05			rs370565385,COSM2156655	15-Nov	.		ENST00000247986	Transcript			microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	ENSG00000117245	g.chr1:21009246G>A	19167			MODERATE		1.895	low	getma.org/?cm=msa&ty=f&p=KIF17_HUMAN&rb=348&re=1027&var=S788L	NA	getma.org/?cm=var&var=hg19,1,21009246,G,A&fts=all	S788L	--	--	1																																		KIF17_uc001bdp.3_Missense_Mutation_p.S66L|KIF17_uc001bdq.3_Missense_Mutation_p.S66L|KIF17_uc009vpx.2_Missense_Mutation_p.S158L|KIF17_uc001bds.3_Missense_Mutation_p.S788L	0,1	1		benign(0.386)	p.S788L	NM_020816	NP_065867		tolerated(0.08)	0,1	KIF17_HUMAN	KIF17	HGNC	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)			11	2481	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	UPI0000185F1A	788			Potential.		SNV	KIF17,missense_variant,p.Ser788Leu,ENST00000247986,;KIF17,missense_variant,p.Ser788Leu,ENST00000400463,NM_001122819.1,NM_020816.2;KIF17,missense_variant,p.Ser688Leu,ENST00000375044,NM_001287212.1;KIF17,non_coding_transcript_exon_variant,,ENST00000490034,;KIF17,non_coding_transcript_exon_variant,,ENST00000477167,;KIF17,non_coding_transcript_exon_variant,,ENST00000462858,;KIF17,non_coding_transcript_exon_variant,,ENST00000498225,;	uc001bdr.3	c.2363C>T	2674/3969	1	1			c.2363C>T						1	SNP	c.(2362-2364)TCG>TTG	64	64			ovary(3)|skin(1)	4	Broad	kinesin family member 17 isoform a			21009246		0.607	ENSG00000117245	8140	g.chr1:21009246G>A	microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding							39.804988	KEEP	7	8	-1	20	20	7	8	-1	41.890599	20	20	0.288462	1	0	0	0	0	1	0	0	0	--	--		0	A			KIF17_uc001bdp.3_Missense_Mutation_p.S66L|KIF17_uc001bdq.3_Missense_Mutation_p.S66L|KIF17_uc009vpx.2_Missense_Mutation_p.S158L|KIF17_uc001bds.3_Missense_Mutation_p.S788L	171	GBM-19-5951-TP	p.S788L	G	GTCCTCATCCGAGTTCTGCAG	NM_020816	NP_065867	21009246	Q9P2E2	KIF17_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	11	2481	-	A	A		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	788			Potential.			
KIF17	0	broad.mit.edu	GRCh37	1	21016727	21016727	+	synonymous_variant	Silent	SNP	A	A	G	rs143130602		TCGA-41-2573-01	TCGA-41-2573-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000247986.2:c.1335T>C	p.Tyr445=	p.Y445=	ENST00000247986		445	taT/taC	0	G:0.0002		1			G	Y	uc001bdr.3	protein_coding	YES	CCDS213.1			1335/3090									ovary(3)|skin(1)	4	c.(1333-1335)TAT>TAC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF415	kinesin family member 17 isoform a			G:0	ENSP00000247986		15-Jul	8.24E-06	9.74E-05							rs143130602,COSM3400275	15-Jul	.		ENST00000247986	Transcript			microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	ENSG00000117245	g.chr1:21016727A>G	19167			LOW								--	--	1																																		KIF17_uc009vpx.2_Missense_Mutation_p.M1T|KIF17_uc001bds.3_Silent_p.Y445Y	0,1	1			p.Y445Y	NM_020816	NP_065867			0,1	KIF17_HUMAN	KIF17	HGNC	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)			7	1453	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	UPI0000185F1A	445			Potential.		SNV	KIF17,synonymous_variant,p.=,ENST00000247986,;KIF17,synonymous_variant,p.=,ENST00000400463,NM_001122819.1,NM_020816.2;KIF17,synonymous_variant,p.=,ENST00000375044,NM_001287212.1;KIF17,non_coding_transcript_exon_variant,,ENST00000490034,;KIF17,upstream_gene_variant,,ENST00000462858,;KIF17,upstream_gene_variant,,ENST00000498225,;RP5-930J4.5,downstream_gene_variant,,ENST00000440621,;	uc001bdr.3	c.1335T>C	1646/3969	4	4			c.1335T>C						1	SNP	c.(1333-1335)TAT>TAC	29	29			ovary(3)|skin(1)	4	Broad	kinesin family member 17 isoform a			21016727		0.627	ENSG00000117245	8140	g.chr1:21016727A>G	microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding							-19.266239	KEEP	3	0	-1	58	57	3	0	-1	6.705457	58	57	0.028302	1	0	0	0	0	0	0	1	0	--	--		0	G			KIF17_uc009vpx.2_Missense_Mutation_p.M1T|KIF17_uc001bds.3_Silent_p.Y445Y	252	GBM-41-2573-TP	p.Y445Y	A	GCCTGACGTCATATGAGTTGC	NM_020816	NP_065867	21016727	Q9P2E2	KIF17_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	7	1453	-	G	G		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	Silent	445			Potential.			
KIF18A	81930	broad.mit.edu	GRCh37	11	28058009	28058009	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0745-01	TCGA-06-0745-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263181.6:c.2151G>A	p.Pro717=	p.P717=	ENST00000263181	NM_031217.3	717	ccG/ccA	0		A:0	1	A:0.0014		T	P	uc001msc.2	protein_coding	YES	CCDS7867.1			2151/2697									ovary(2)	2	c.(2149-2151)CCG>CCA			hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF399	kinesin family member 18A		A:0		ENSP00000263181	A:0	14/17	2.47E-05		0.000176			1.51E-05			rs575102434,COSM2151745	14/17	.		ENST00000263181	Transcript		A:0.0002	blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	ENSG00000121621	g.chr11:28058009C>T	29441			LOW								--	--	1																																			0,1	1			p.P717P	NM_031217	NP_112494	A:0		0,1	KI18A_HUMAN	KIF18A	HGNC	Q8NI77	KI18A_HUMAN					14	2333	-			UPI0000037CCC	717					SNV	KIF18A,synonymous_variant,p.=,ENST00000263181,NM_031217.3;	uc001msc.2	c.2151G>A	2442/3568	1	1			c.2151G>A						11	SNP	c.(2149-2151)CCG>CCA	1	1			ovary(2)	2	Broad	kinesin family member 18A			28058009		0.363	ENSG00000121621	8141	g.chr11:28058009C>T	blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding							62.23124	KEEP	14	9	-1	31	12	14	9	-1	63.495229	31	12	0.349206	1	0	0	0	0	0	0	1	0	--	--		0	T				67	GBM-06-0745-TP	p.P717P	C	TTACTGTAGACGGATTTTGAA	NM_031217	NP_112494	28058009	Q8NI77	KI18A_HUMAN	0			14	2333	-	T	T			Silent	717						
KIF18B	0	broad.mit.edu	GRCh37	17	43004364	43004364	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01	TCGA-14-0740-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000593135.1:c.2359G>A	p.Val787Ile	p.V787I	ENST00000593135	NM_001265577.1	787	Gtt/Att	0			1			T	V/I	uc010wji.1	protein_coding	YES	CCDS45709.2			2359/2559									ovary(2)	2	c.(2368-2370)GTT>ATT				kinesin family member 18B				ENSP00000465992		14/16	1.65E-05					4.77E-05			rs745510143,COSM187818,COSM3402941	14/16	.		ENST00000593135	Transcript						ENSG00000186185	g.chr17:43004364C>T	27102			MODERATE		0.41	neutral	getma.org/?cm=msa&ty=f&p=KI18B_HUMAN&rb=376&re=840&var=V799I	NA	getma.org/?cm=var&var=hg19,17,43004364,C,T&fts=all	V799I	--	--	1																																		KIF18B_uc002iht.2_Missense_Mutation_p.V799I|KIF18B_uc010wjh.1_Missense_Mutation_p.V787I	0,1,1	1		benign(0.001)	p.V790I	NM_001080443	NP_001073912		tolerated(0.44)	0,1,1	KI18B_HUMAN	KIF18B	HGNC							14	2469	-		Prostate(33;0.155)	UPI000192C418						SNV	KIF18B,missense_variant,p.Val799Ile,ENST00000587309,NM_001264573.1;KIF18B,missense_variant,p.Val799Ile,ENST00000438933,;KIF18B,missense_variant,p.Val787Ile,ENST00000593135,NM_001265577.1;KIF18B,missense_variant,p.Val790Ile,ENST00000339151,;KIF18B,missense_variant,p.Val808Ile,ENST00000590129,;	uc010wji.1	c.2368G>A	2457/2745	2	2			c.2368G>A						17	SNP	c.(2368-2370)GTT>ATT	21	21			ovary(2)	2	Broad	kinesin family member 18B			43004364		0.637	ENSG00000186185	8142	g.chr17:43004364C>T										8.990594	KEEP	4	0	-1	10	6	4	0	-1	10.080696	10	6	0.235294	1	0	0	0	0	1	0	0	0	--	--		0	T			KIF18B_uc002iht.2_Missense_Mutation_p.V799I|KIF18B_uc010wjh.1_Missense_Mutation_p.V787I	132	GBM-14-0740-TP	p.V790I	C	CACCTCGCAACGCGCTTCTTC	NM_001080443	NP_001073912	43004364			0			14	2469	-	T	T		Prostate(33;0.155)	Missense_Mutation							
KIF18B	0	broad.mit.edu	GRCh37	17	43005601	43005601	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-26-5136-01	TCGA-26-5136-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000593135.1:c.2069G>C	p.Cys690Ser	p.C690S	ENST00000593135	NM_001265577.1	690	tGc/tCc	0			1			G	C/S	uc010wji.1	protein_coding	YES	CCDS45709.2			2069/2559									ovary(2)	2	c.(2077-2079)TGC>TCC				kinesin family member 18B				ENSP00000465992		13/16									COSM3748015,COSM3748016	13/16	.		ENST00000593135	Transcript						ENSG00000186185	g.chr17:43005601C>G	27102			MODERATE		2.19	medium	getma.org/?cm=msa&ty=f&p=KI18B_HUMAN&rb=376&re=840&var=C702S	NA	getma.org/?cm=var&var=hg19,17,43005601,C,G&fts=all	C702S	--	--	1																																		KIF18B_uc002iht.2_Missense_Mutation_p.C702S|KIF18B_uc010wjh.1_Missense_Mutation_p.C690S	1,1	1		probably_damaging(0.999)	p.C693S	NM_001080443	NP_001073912		deleterious(0.03)	1,1	KI18B_HUMAN	KIF18B	HGNC							13	2179	-		Prostate(33;0.155)	UPI000192C418						SNV	KIF18B,missense_variant,p.Cys702Ser,ENST00000587309,NM_001264573.1;KIF18B,missense_variant,p.Cys702Ser,ENST00000438933,;KIF18B,missense_variant,p.Cys690Ser,ENST00000593135,NM_001265577.1;KIF18B,missense_variant,p.Cys693Ser,ENST00000339151,;KIF18B,missense_variant,p.Cys711Ser,ENST00000590129,;KIF18B,downstream_gene_variant,,ENST00000585687,;	uc010wji.1	c.2078G>C	2167/2745	3	3			c.2078G>C						17	SNP	c.(2077-2079)TGC>TCC	7	7			ovary(2)	2	Broad	kinesin family member 18B			43005601		0.647	ENSG00000186185	8142	g.chr17:43005601C>G										-1.832981	KEEP	9	7	-1	39	20	9	7	-1	6.691417	39	20	0.083333	1	0	0	0	0	1	0	0	0	--	--		0	G			KIF18B_uc002iht.2_Missense_Mutation_p.C702S|KIF18B_uc010wjh.1_Missense_Mutation_p.C690S	185	GBM-26-5136-TP	p.C693S	C	TGTGGCTGGGCAAACGCGAGG	NM_001080443	NP_001073912	43005601			0			13	2179	-	G	G		Prostate(33;0.155)	Missense_Mutation							
KIF19	124602	broad.mit.edu	GRCh37	17	72345359	72345359	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0882-01	TCGA-06-0882-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389916.4:c.1084G>A	p.Ala362Thr	p.A362T	ENST00000389916	NM_153209.3	362	Gcc/Acc	0			1			A	A/T	uc002jkm.3	protein_coding	YES	CCDS32718.2			1084/2997										0	c.(1084-1086)GCC>ACC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF402,Superfamily_domains:SSF52540	kinesin family member 19				ENSP00000374566		20-Oct									COSM2152340	20-Oct	.		ENST00000389916	Transcript			microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	ENSG00000196169	g.chr17:72345359G>A	26735			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=KIF19_HUMAN&rb=317&re=392&var=A362T	getma.org/pdb.php?prot=KIF19_HUMAN&from=347&to=362&var=A362T	getma.org/?cm=var&var=hg19,17,72345359,G,A&fts=all	A362T	--	--	1																																		KIF19_uc002jkj.2_Missense_Mutation_p.A362T|KIF19_uc002jkk.2_Missense_Mutation_p.A320T|KIF19_uc002jkl.2_Missense_Mutation_p.A320T	1	1		benign(0.233)	p.A362T	NM_153209	NP_694941		tolerated(0.06)	1	KIF19_HUMAN	KIF19	HGNC	Q2TAC6	KIF19_HUMAN					10	1222	+			UPI0000F0A553	362			Potential.		SNV	KIF19,missense_variant,p.Ala362Thr,ENST00000389916,NM_153209.3;KIF19,missense_variant,p.Ala320Thr,ENST00000551294,;AC103809.2,downstream_gene_variant,,ENST00000599136,;KIF19,non_coding_transcript_exon_variant,,ENST00000547389,;KIF19,non_coding_transcript_exon_variant,,ENST00000359939,;KIF19,non_coding_transcript_exon_variant,,ENST00000549637,;	uc002jkm.3	c.1084G>A	1222/3643	2	2			c.1084G>A						17	SNP	c.(1084-1086)GCC>ACC	39	39				0	Broad	kinesin family member 19			72345359		0.642	ENSG00000196169	8143	g.chr17:72345359G>A	microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity							26.543341	KEEP	5	9	-1	27	26	5	9	-1	30.603214	27	26	0.224138	1	0	0	0	0	1	0	0	0	--	--		0	A			KIF19_uc002jkj.2_Missense_Mutation_p.A362T|KIF19_uc002jkk.2_Missense_Mutation_p.A320T|KIF19_uc002jkl.2_Missense_Mutation_p.A320T	77	GBM-06-0882-TP	p.A362T	G	CTACCACATCGCCCAGTACAC	NM_153209	NP_694941	72345359	Q2TAC6	KIF19_HUMAN	0			10	1222	+	A	A			Missense_Mutation	362			Potential.			
KIF19	0	broad.mit.edu	GRCh37	17	72342551	72342551	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-12-3650-01	TCGA-12-3650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389916.4:c.814delC	p.His272ThrfsTer16	p.H272Tfs*16	ENST00000389916	NM_153209.3	271	gCc/gc	0			1			-	A/X	uc002jkm.3	protein_coding	YES	CCDS32718.2			812/2997										0	c.(811-813)GCCfs			Gene3D:3.40.850.10,Pfam_domain:PF00225,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF402,SMART_domains:SM00129,Superfamily_domains:SSF52540	kinesin family member 19				ENSP00000374566		20-Aug									COSM1731580	20-Aug	.		ENST00000389916	Transcript			microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	ENSG00000196169	g.chr17:72342551delC	26735	2		HIGH								--	--	1																																		KIF19_uc002jkj.2_Frame_Shift_Del_p.A271fs|KIF19_uc002jkk.2_Frame_Shift_Del_p.A229fs|KIF19_uc002jkl.2_Frame_Shift_Del_p.A229fs	1	1			p.A271fs	NM_153209	NP_694941			1	KIF19_HUMAN	KIF19	HGNC	Q2TAC6	KIF19_HUMAN					8	950	+			UPI0000F0A553	271			Kinesin-motor.		deletion	KIF19,frameshift_variant,p.His272ThrfsTer16,ENST00000389916,NM_153209.3;KIF19,frameshift_variant,p.His230ThrfsTer16,ENST00000551294,;AC103809.2,downstream_gene_variant,,ENST00000599136,;KIF19,non_coding_transcript_exon_variant,,ENST00000547389,;KIF19,non_coding_transcript_exon_variant,,ENST00000359939,;KIF19,upstream_gene_variant,,ENST00000549637,;	uc002jkm.3	c.812delC	950/3643	5	5			c.812delC						17	DEL	c.(811-813)GCCfs	1	1				0	Broad	kinesin family member 19			72342551		0.597	ENSG00000196169	8143	g.chr17:72342551delC	microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity																				0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			KIF19_uc002jkj.2_Frame_Shift_Del_p.A271fs|KIF19_uc002jkk.2_Frame_Shift_Del_p.A229fs|KIF19_uc002jkl.2_Frame_Shift_Del_p.A229fs	126	GBM-12-3650-TP	p.A271fs	C	AAGGAGGGGGCCCACATCAAC	NM_153209	NP_694941	72342551	Q2TAC6	KIF19_HUMAN	0			8	950	+	-	-			Frame_Shift_Del	271			Kinesin-motor.			
KIF19	0	broad.mit.edu	GRCh37	17	72345437	72345437	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389916.4:c.1162C>T	p.Arg388Trp	p.R388W	ENST00000389916	NM_153209.3	388	Cgg/Tgg	0			1			T	R/W	uc002jkm.3	protein_coding	YES	CCDS32718.2			1162/2997										0	c.(1162-1164)CGG>TGG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF402,Low_complexity_(Seg):seg	kinesin family member 19				ENSP00000374566		20-Oct	8.24E-06							6.99E-05	rs767518683,COSM3403188	20-Oct	.		ENST00000389916	Transcript			microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	ENSG00000196169	g.chr17:72345437C>T	26735			MODERATE		1.795	low	getma.org/?cm=msa&ty=f&p=KIF19_HUMAN&rb=363&re=426&var=R388W	NA	getma.org/?cm=var&var=hg19,17,72345437,C,T&fts=all	R388W	--	--	1																																		KIF19_uc002jkj.2_Missense_Mutation_p.R388W|KIF19_uc002jkk.2_Missense_Mutation_p.R346W|KIF19_uc002jkl.2_Missense_Mutation_p.R346W	0,1	1		benign(0.009)	p.R388W	NM_153209	NP_694941		tolerated(0.07)	0,1	KIF19_HUMAN	KIF19	HGNC	Q2TAC6	KIF19_HUMAN					10	1300	+			UPI0000F0A553	388			Potential.		SNV	KIF19,missense_variant,p.Arg388Trp,ENST00000389916,NM_153209.3;KIF19,missense_variant,p.Arg346Trp,ENST00000551294,;AC103809.2,downstream_gene_variant,,ENST00000599136,;KIF19,non_coding_transcript_exon_variant,,ENST00000547389,;KIF19,non_coding_transcript_exon_variant,,ENST00000359939,;KIF19,non_coding_transcript_exon_variant,,ENST00000549637,;	uc002jkm.3	c.1162C>T	1300/3643	2	2			c.1162C>T						17	SNP	c.(1162-1164)CGG>TGG	22	22				0	Broad	kinesin family member 19			72345437		0.662	ENSG00000196169	8143	g.chr17:72345437C>T	microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity							-3.111238	KEEP	0	3	-1	30	32	0	3	-1	7.006741	30	32	0.06	1	0	0	0	0	1	0	0	0	--	--		0	T			KIF19_uc002jkj.2_Missense_Mutation_p.R388W|KIF19_uc002jkk.2_Missense_Mutation_p.R346W|KIF19_uc002jkl.2_Missense_Mutation_p.R346W	229	GBM-32-1977-TP	p.R388W	C	GCAGACTGGGCGGGGCCAGGC	NM_153209	NP_694941	72345437	Q2TAC6	KIF19_HUMAN	0			10	1300	+	T	T			Missense_Mutation	388			Potential.			
KIF1A	547	broad.mit.edu	GRCh37	2	241728662	241728662	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000498729.2:c.174G>A	p.Ser58=	p.S58=	ENST00000498729	NM_001244008.1	58	tcG/tcA	0	T:0		1			T	S	uc002vzy.2	protein_coding		CCDS46561.1			174/5073									lung(1)	1	c.(172-174)TCG>TCA			Gene3D:3.40.850.10,Pfam_domain:PF00225,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF361,SMART_domains:SM00129,Superfamily_domains:SSF52540	axonal transport of synaptic vesicles			T:0.0001	ENSP00000322791		Mar-47	1.65E-05					3.02E-05			rs369088708,COSM3407744,COSM3407743	Mar-47	.		ENST00000320389	Transcript	1		anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	ENSG00000130294	g.chr2:241728662C>T	888			LOW								--	--	1																																		KIF1A_uc010fzk.2_Silent_p.S58S|KIF1A_uc002vzz.1_Silent_p.S58S	0,1,1				p.S58S	NM_004321	NP_004312			0,1,1	KIF1A_HUMAN	KIF1A	HGNC	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	G1UI30_HUMAN,C9JBH1_HUMAN		3	320	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	UPI000014087F	58			Kinesin-motor.		SNV	KIF1A,synonymous_variant,p.=,ENST00000498729,NM_001244008.1;KIF1A,synonymous_variant,p.=,ENST00000320389,NM_004321.6;KIF1A,synonymous_variant,p.=,ENST00000404283,;KIF1A,upstream_gene_variant,,ENST00000428768,;KIF1A,downstream_gene_variant,,ENST00000448728,;	uc002vzy.2	c.174G>A	333/8832	2	2			c.174G>A						2	SNP	c.(172-174)TCG>TCA	43	43			lung(1)	1	Broad	axonal transport of synaptic vesicles			241728662		0.612	ENSG00000130294	8144	g.chr2:241728662C>T	anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity							138.414349	KEEP	29	21	-1	9	13	29	21	-1	140.628614	9	13	0.698413	1	0	0	0	0	0	0	1	0	--	--		0	T			KIF1A_uc010fzk.2_Silent_p.S58S|KIF1A_uc002vzz.1_Silent_p.S58S	102	GBM-06-5858-TP	p.S58S	C	CTGAGGTGTGCGACCAGTAGG	NM_004321	NP_004312	241728662	Q12756	KIF1A_HUMAN	0		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	3	320	-	T	T		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	Silent	58			Kinesin-motor.			
KIF1A	0	broad.mit.edu	GRCh37	2	241657468	241657468	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2528-01	TCGA-27-2528-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320389.7:c.5029C>T	p.Arg1677Trp	p.R1677W	ENST00000320389	NM_004321.6	1677	Cgg/Tgg	0			1			A	R/W	uc002vzy.2	protein_coding		CCDS46561.1			5029/5073									lung(1)	1	c.(5029-5031)CGG>TGG			hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF361	axonal transport of synaptic vesicles				ENSP00000322791		46/47	1.66E-05					2.88E-05		9.74E-05	rs765668490,COSM3407742,COSM3407741	46/47	.		ENST00000320389	Transcript	1		anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	ENSG00000130294	g.chr2:241657468G>A	888			MODERATE		2.25	medium	getma.org/?cm=msa&ty=f&p=KIF1A_HUMAN&rb=1644&re=1690&var=R1677W	NA	getma.org/?cm=var&var=hg19,2,241657468,G,A&fts=all	R1677W	--	--	1																																		KIF1A_uc010fzk.2_Missense_Mutation_p.R1778W|KIF1A_uc002vzw.2_Missense_Mutation_p.R338W|KIF1A_uc002vzx.2_Missense_Mutation_p.R404W	0,1,1			benign(0.257)	p.R1677W	NM_004321	NP_004312		deleterious(0)	0,1,1	KIF1A_HUMAN	KIF1A	HGNC	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	G1UI30_HUMAN,C9JBH1_HUMAN		46	5175	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	UPI000014087F	1677					SNV	KIF1A,missense_variant,p.Arg1778Trp,ENST00000498729,NM_001244008.1;KIF1A,missense_variant,p.Arg1677Trp,ENST00000320389,NM_004321.6;KIF1A,downstream_gene_variant,,ENST00000431776,;KIF1A,splice_region_variant,,ENST00000460788,;KIF1A,splice_region_variant,,ENST00000492812,;KIF1A,downstream_gene_variant,,ENST00000465813,;KIF1A,downstream_gene_variant,,ENST00000488776,;	uc002vzy.2	c.5029C>T	5188/8832	1	1			c.5029C>T						2	SNP	c.(5029-5031)CGG>TGG	53	53			lung(1)	1	Broad	axonal transport of synaptic vesicles			241657468		0.662	ENSG00000130294	8144	g.chr2:241657468G>A	anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity							11.197854	KEEP	1	3	-1	4	4	1	3	-1	11.197854	4	4	0.5	1	0	0	0	0	1	0	0	0	--	--		0	A			KIF1A_uc010fzk.2_Missense_Mutation_p.R1778W|KIF1A_uc002vzw.2_Missense_Mutation_p.R338W|KIF1A_uc002vzx.2_Missense_Mutation_p.R404W	205	GBM-27-2528-TP	p.R1677W	G	CGGCCCTACCGTATGGTCCCG	NM_004321	NP_004312	241657468	Q12756	KIF1A_HUMAN	0		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	46	5175	-	A	A		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	Missense_Mutation	1677						
KIF1B	0	broad.mit.edu	GRCh37	1	10425498	10425498	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01	TCGA-15-0742-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377086.1:c.4544G>A	p.Arg1515His	p.R1515H	ENST00000377086		1515	cGt/cAt	0	A:0.0002		1			A	R/H	uc001aqx.3	protein_coding					4544/5451									ovary(2)|upper_aerodigestive_tract(1)	3	c.(4543-4545)CGT>CAT			hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF328	kinesin family member 1B isoform b			A:0	ENSP00000366290		43/49	2.47E-05	0.000192				1.50E-05			rs375130478,COSM3399500	43/49	.		ENST00000377086	Transcript	1		anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	ENSG00000054523	g.chr1:10425498G>A	16636			MODERATE		1.915	medium	getma.org/?cm=msa&ty=f&p=KIF1B_HUMAN&rb=1415&re=1614&var=R1515H	NA	getma.org/?cm=var&var=hg19,1,10425498,G,A&fts=all	R1515H	--	--	1																																		KIF1B_uc001aqw.3_Missense_Mutation_p.R1469H|KIF1B_uc001aqy.2_Missense_Mutation_p.R1489H|KIF1B_uc001aqz.2_Missense_Mutation_p.R1515H|KIF1B_uc001ara.2_Missense_Mutation_p.R1475H|KIF1B_uc001arb.2_Missense_Mutation_p.R1501H	0,1			possibly_damaging(0.902)	p.R1515H	NM_015074	NP_055889		deleterious(0.01)	0,1	KIF1B_HUMAN	KIF1B	HGNC	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	B4DMF3_HUMAN		43	4746	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	UPI000003424C	1515					SNV	KIF1B,missense_variant,p.Arg1515His,ENST00000377086,;KIF1B,missense_variant,p.Arg1515His,ENST00000377081,;KIF1B,missense_variant,p.Arg1469His,ENST00000263934,NM_015074.3;KIF1B,downstream_gene_variant,,ENST00000465635,;KIF1B,non_coding_transcript_exon_variant,,ENST00000470616,;KIF1B,downstream_gene_variant,,ENST00000483340,;	uc001aqx.3	c.4544G>A	4746/10669	2	2			c.4544G>A						1	SNP	c.(4543-4545)CGT>CAT	44	44			ovary(2)|upper_aerodigestive_tract(1)	3	Broad	kinesin family member 1B isoform b			10425498		0.507	ENSG00000054523	8145	g.chr1:10425498G>A	anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding							139.296157	KEEP	25	28	-1	36	32	25	28	-1	139.333855	36	32	0.478261	1	0	0	0	0	1	0	0	0	--	--		0	A			KIF1B_uc001aqw.3_Missense_Mutation_p.R1469H|KIF1B_uc001aqy.2_Missense_Mutation_p.R1489H|KIF1B_uc001aqz.2_Missense_Mutation_p.R1515H|KIF1B_uc001ara.2_Missense_Mutation_p.R1475H|KIF1B_uc001arb.2_Missense_Mutation_p.R1501H	153	GBM-15-0742-TP	p.R1515H	G	TTGCTGCTGCGTGAGAGACTT	NM_015074	NP_055889	10425498	O60333	KIF1B_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	43	4746	+	A	A	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	1515						
KIF1B	0	broad.mit.edu	GRCh37	1	10425617	10425617	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-4931-01	TCGA-76-4931-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377086.1:c.4663G>C	p.Glu1555Gln	p.E1555Q	ENST00000377086		1555	Gaa/Caa	0			1			C	E/Q	uc001aqx.3	protein_coding					4663/5451									ovary(2)|upper_aerodigestive_tract(1)	3	c.(4663-4665)GAA>CAA			hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF328	kinesin family member 1B isoform b				ENSP00000366290		43/49									COSM3399501	43/49	.		ENST00000377086	Transcript	1		anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	ENSG00000054523	g.chr1:10425617G>C	16636			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=KIF1B_HUMAN&rb=1415&re=1614&var=E1555Q	NA	getma.org/?cm=var&var=hg19,1,10425617,G,C&fts=all	E1555Q	--	--	1																																		KIF1B_uc001aqw.3_Missense_Mutation_p.E1509Q|KIF1B_uc001aqy.2_Missense_Mutation_p.E1529Q|KIF1B_uc001aqz.2_Missense_Mutation_p.E1555Q|KIF1B_uc001ara.2_Missense_Mutation_p.E1515Q|KIF1B_uc001arb.2_Missense_Mutation_p.E1541Q	1			benign(0.017)	p.E1555Q	NM_015074	NP_055889		tolerated(0.06)	1	KIF1B_HUMAN	KIF1B	HGNC	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	B4DMF3_HUMAN		43	4865	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	UPI000003424C	1555					SNV	KIF1B,missense_variant,p.Glu1555Gln,ENST00000377086,;KIF1B,missense_variant,p.Glu1555Gln,ENST00000377081,;KIF1B,missense_variant,p.Glu1509Gln,ENST00000263934,NM_015074.3;KIF1B,downstream_gene_variant,,ENST00000465635,;KIF1B,non_coding_transcript_exon_variant,,ENST00000470616,;KIF1B,downstream_gene_variant,,ENST00000483340,;	uc001aqx.3	c.4663G>C	4865/10669	3	3			c.4663G>C						1	SNP	c.(4663-4665)GAA>CAA	7	7			ovary(2)|upper_aerodigestive_tract(1)	3	Broad	kinesin family member 1B isoform b			10425617		0.552	ENSG00000054523	8145	g.chr1:10425617G>C	anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding							-17.611624	KEEP	2	2	-1	58	72	2	2	-1	11.17853	58	72	0.033058	1	0	0	0	0	1	0	0	0	--	--		0	C			KIF1B_uc001aqw.3_Missense_Mutation_p.E1509Q|KIF1B_uc001aqy.2_Missense_Mutation_p.E1529Q|KIF1B_uc001aqz.2_Missense_Mutation_p.E1555Q|KIF1B_uc001ara.2_Missense_Mutation_p.E1515Q|KIF1B_uc001arb.2_Missense_Mutation_p.E1541Q	270	GBM-76-4931-TP	p.E1555Q	G	CACTACCTTTGAAAGCGCCAT	NM_015074	NP_055889	10425617	O60333	KIF1B_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	43	4865	+	C	C	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	1555						
KIF20B	0	broad.mit.edu	GRCh37	10	91498196	91498196	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-12-3653-01	TCGA-12-3653-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371728.3:c.3598A>G	p.Asn1200Asp	p.N1200D	ENST00000371728	NM_001284259.1	1200	Aat/Gat	0			1			G	N/D	uc001kgs.1	protein_coding		CCDS60590.1			3598/5463									ovary(1)|pancreas(1)|skin(1)	3	c.(3598-3600)AAT>GAT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23165	M-phase phosphoprotein 1				ENSP00000360793		20/33									COSM3397295,COSM3397296	20/33	.		ENST00000371728	Transcript			cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	ENSG00000138182	g.chr10:91498196A>G	7212			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=KI20B_HUMAN&rb=1081&re=1459&var=N1200D	NA	getma.org/?cm=var&var=hg19,10,91498196,A,G&fts=all	N1200D	--	--	1																																		KIF20B_uc001kgr.1_Missense_Mutation_p.N1160D|KIF20B_uc001kgt.1_Missense_Mutation_p.N411D|KIF20B_uc009xtw.1_RNA	1,1			possibly_damaging(0.636)	p.N1200D	NM_016195	NP_057279		tolerated(0.09)	1,1	KI20B_HUMAN	KIF20B	HGNC	Q96Q89	KI20B_HUMAN					20	3670	+			UPI000013D104	1200					SNV	KIF20B,missense_variant,p.Asn1230Asp,ENST00000416354,;KIF20B,missense_variant,p.Asn1200Asp,ENST00000371728,NM_001284259.1;KIF20B,missense_variant,p.Asn1160Asp,ENST00000260753,NM_016195.2;KIF20B,missense_variant,p.Asn1200Asp,ENST00000394289,;KIF20B,non_coding_transcript_exon_variant,,ENST00000478929,;	uc001kgs.1	c.3598A>G	3663/6419	4	4			c.3598A>G						10	SNP	c.(3598-3600)AAT>GAT	32	32			ovary(1)|pancreas(1)|skin(1)	3	Broad	M-phase phosphoprotein 1			91498196		0.318	ENSG00000138182	8148	g.chr10:91498196A>G	cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding							75.525413	KEEP	11	12	-1	29	21	11	12	-1	77.811163	29	21	0.309859	1	0	0	0	0	1	0	0	0	--	--		0	G			KIF20B_uc001kgr.1_Missense_Mutation_p.N1160D|KIF20B_uc001kgt.1_Missense_Mutation_p.N411D|KIF20B_uc009xtw.1_RNA	128	GBM-12-3653-TP	p.N1200D	A	GCTAGAAAGAAATTTGAAGGA	NM_016195	NP_057279	91498196	Q96Q89	KI20B_HUMAN	0			20	3670	+	G	G			Missense_Mutation	1200						
KIF20B	9585		GRCh37	10	91498052	91498052	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000260753.4:c.3334C>A	p.Leu1112Ile	p.L1112I	ENST00000260753	NM_016195.2	1112	Ctt/Att	0																																																																																																																																																																																																																																												
KIF21A	0	broad.mit.edu	GRCh37	12	39716483	39716483	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs147620197		TCGA-32-1980-01	TCGA-32-1980-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361418.5:c.3658A>G	p.Lys1220Glu	p.K1220E	ENST00000361418		1220	Aag/Gag	0	C:0		1			C	K/E	uc001rly.2	protein_coding	YES	CCDS53776.1			3658/5025									ovary(4)|pancreas(1)|lung(1)|skin(1)	7	c.(3658-3660)AAG>GAG			hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF398	kinesin family member 21A			C:0.0001	ENSP00000354878		27/38									rs147620197,COSM3398687,COSM3398688	27/38	.		ENST00000361418	Transcript	1		microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	ENSG00000139116	g.chr12:39716483T>C	19349			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=KI21A_HUMAN&rb=727&re=1336&var=K1220E	NA	getma.org/?cm=var&var=hg19,12,39716483,T,C&fts=all	K1220E	--	--	1																																		KIF21A_uc001rlv.2_Missense_Mutation_p.K225E|KIF21A_uc001rlw.2_Missense_Mutation_p.K537E|KIF21A_uc001rlx.2_Missense_Mutation_p.K1207E|KIF21A_uc001rlz.2_Missense_Mutation_p.K1184E|KIF21A_uc010skl.1_Missense_Mutation_p.K1200E	0,1,1	1		benign(0.284)	p.K1220E	NM_017641	NP_060111		tolerated(0.14)	0,1,1	KI21A_HUMAN	KIF21A	HGNC	Q7Z4S6	KI21A_HUMAN					27	3804	-		Lung NSC(34;0.179)|all_lung(34;0.213)	UPI0000212ED9	1220					SNV	KIF21A,missense_variant,p.Lys1220Glu,ENST00000395670,;KIF21A,missense_variant,p.Lys1207Glu,ENST00000361961,NM_017641.3,NM_001173464.1;KIF21A,missense_variant,p.Lys1220Glu,ENST00000361418,;KIF21A,missense_variant,p.Lys1200Glu,ENST00000544797,NM_001173463.1;KIF21A,missense_variant,p.Lys1184Glu,ENST00000541463,NM_001173465.1;KIF21A,missense_variant,p.Lys568Glu,ENST00000552961,;KIF21A,missense_variant,p.Lys261Glu,ENST00000551264,;KIF21A,intron_variant,,ENST00000552475,;KIF21A,upstream_gene_variant,,ENST00000547745,;KIF21A,missense_variant,p.Lys471Glu,ENST00000547108,;	uc001rly.2	c.3658A>G	3674/5044	3	3			c.3658A>G						12	SNP	c.(3658-3660)AAG>GAG	2	2			ovary(4)|pancreas(1)|lung(1)|skin(1)	7	Broad	kinesin family member 21A			39716483		0.398	ENSG00000139116	8149	g.chr12:39716483T>C	microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity							2.087899	KEEP	3	4	-1	50	33	3	4	-1	16.643572	50	33	0.075949	1	0	0	0	0	1	0	0	0	--	--		0	C			KIF21A_uc001rlv.2_Missense_Mutation_p.K225E|KIF21A_uc001rlw.2_Missense_Mutation_p.K537E|KIF21A_uc001rlx.2_Missense_Mutation_p.K1207E|KIF21A_uc001rlz.2_Missense_Mutation_p.K1184E|KIF21A_uc010skl.1_Missense_Mutation_p.K1200E	231	GBM-32-1980-TP	p.K1220E	T	CTGCCTATCTTAGAAGGTAAG	NM_017641	NP_060111	39716483	Q7Z4S6	KI21A_HUMAN	0			27	3804	-	C	C		Lung NSC(34;0.179)|all_lung(34;0.213)	Missense_Mutation	1220						
KIF21B	23046	broad.mit.edu	GRCh37	1	200974537	200974537	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000422435.2:c.631C>T	p.Arg211Cys	p.R211C	ENST00000422435	NM_001252100.1	211	Cgc/Tgc	0			1			A	R/C	uc001gvs.1	protein_coding	YES	CCDS58056.1			631/4914									ovary(3)|skin(3)	6	c.(631-633)CGC>TGC			Gene3D:3.40.850.10,Pfam_domain:PF00225,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF335,SMART_domains:SM00129,Superfamily_domains:SSF52540	kinesin family member 21B				ENSP00000411831		May-35									COSM3400186	May-35	.		ENST00000422435	Transcript			microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	ENSG00000116852	g.chr1:200974537G>A	29442			MODERATE		4.345	high	getma.org/?cm=msa&ty=f&p=KI21B_HUMAN&rb=14&re=370&var=R211C	getma.org/pdb.php?prot=KI21B_HUMAN&from=14&to=370&var=R211C	getma.org/?cm=var&var=hg19,1,200974537,G,A&fts=all	R211C	--	--	1																																		KIF21B_uc001gvr.1_Missense_Mutation_p.R211C|KIF21B_uc009wzl.1_Missense_Mutation_p.R211C|KIF21B_uc010ppn.1_Missense_Mutation_p.R211C|KIF21B_uc001gvt.1_5'UTR	1	1		probably_damaging(0.997)	p.R211C	NM_017596	NP_060066		deleterious(0)	1	KI21B_HUMAN	KIF21B	HGNC	O75037	KI21B_HUMAN					5	948	-			UPI0000153E7C	211			Kinesin-motor.		SNV	KIF21B,missense_variant,p.Arg211Cys,ENST00000332129,NM_001252103.1,NM_001252102.1,NM_017596.3;KIF21B,missense_variant,p.Arg211Cys,ENST00000422435,NM_001252100.1;KIF21B,missense_variant,p.Arg211Cys,ENST00000461742,;KIF21B,missense_variant,p.Arg211Cys,ENST00000360529,;KIF21B,non_coding_transcript_exon_variant,,ENST00000534043,;	uc001gvs.1	c.631C>T	948/5519	2	2			c.631C>T						1	SNP	c.(631-633)CGC>TGC	29	29			ovary(3)|skin(3)	6	Broad	kinesin family member 21B			200974537		0.627	ENSG00000116852	8150	g.chr1:200974537G>A	microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity							130.124133	KEEP	24	28	-1	64	56	24	28	-1	135.593041	64	56	0.301282	1	0	0	0	0	1	0	0	0	--	--		0	A			KIF21B_uc001gvr.1_Missense_Mutation_p.R211C|KIF21B_uc009wzl.1_Missense_Mutation_p.R211C|KIF21B_uc010ppn.1_Missense_Mutation_p.R211C|KIF21B_uc001gvt.1_5'UTR	8	GBM-02-2486-TP	p.R211C	G	GCTGTGGTGCGGGACAGGGCC	NM_017596	NP_060066	200974537	O75037	KI21B_HUMAN	0			5	948	-	A	A			Missense_Mutation	211			Kinesin-motor.			
KIF24	0	broad.mit.edu	GRCh37	9	34257897	34257897	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5951-01	TCGA-19-5951-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379166.2:c.1708C>T	p.Arg570Ter	p.R570*	ENST00000379166	NM_194313.2	570	Cga/Tga	0			1			A	R/*	uc003zua.3	protein_coding	YES	CCDS6551.2			1708/4107									central_nervous_system(1)	1	c.(1708-1710)CGA>TGA				kinesin family member 24				ENSP00000368464		13-Nov	8.24E-06							6.06E-05	rs764804578,COSM1108436,COSM1108435	13-Nov	.		ENST00000379166	Transcript			microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	ENSG00000186638	g.chr9:34257897G>A	19916			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,9,34257897,G,A&fts=all	R570*	--	--	1																																		KIF24_uc010mkb.2_Intron	0,1,1	1			p.R570*	NM_194313	NP_919289			0,1,1	KIF24_HUMAN	KIF24	HGNC	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)				11	1828	-			UPI00004F9D23	570					SNV	KIF24,stop_gained,p.Arg570Ter,ENST00000379166,NM_194313.2;KIF24,stop_gained,p.Arg570Ter,ENST00000402558,;KIF24,stop_gained,p.Arg436Ter,ENST00000345050,;KIF24,stop_gained,p.Arg436Ter,ENST00000379174,;	uc003zua.3	c.1708C>T	1828/6226	5	2			c.1708C>T						9	SNP	c.(1708-1710)CGA>TGA	47	47			central_nervous_system(1)	1	Broad	kinesin family member 24			34257897		0.448	ENSG00000186638	8152	g.chr9:34257897G>A	microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity							548.207473	KEEP	74	105	-1	4	12	74	105	-1	577.414556	4	12	0.924419	1	0	0	0	0	0	1	0	0	--	--		0	A			KIF24_uc010mkb.2_Intron	171	GBM-19-5951-TP	p.R570*	G	CTCTGAATTCGTTTTGGAGAG	NM_194313	NP_919289	34257897	Q5T7B8	KIF24_HUMAN	0	LUSC - Lung squamous cell carcinoma(29;0.0107)		11	1828	-	A	A			Nonsense_Mutation	570						
KIF25	3834	broad.mit.edu	GRCh37	6	168443353	168443353	+	synonymous_variant	Silent	SNP	G	G	A	rs147561163		TCGA-06-6388-01	TCGA-06-6388-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000443060.2:c.942G>A	p.Pro314=	p.P314=	ENST00000443060		314	ccG/ccA	0	A:0		1			A	P	uc003qwk.1	protein_coding		CCDS5305.1			942/1155									ovary(1)|pancreas(1)	2	c.(940-942)CCG>CCA			Gene3D:3.40.850.10,Pfam_domain:PF00225,Prints_domain:PR00380,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF327,SMART_domains:SM00129,Superfamily_domains:SSF52540	kinesin family member 25 isoform 1			A:0.0003	ENSP00000346401		9-Aug	0.000173		8.65E-05			0.000256		0.000122	rs147561163,COSM461849	9-Aug	.		ENST00000354419	Transcript			microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	ENSG00000125337	g.chr6:168443353G>A	6390			LOW								--	--	1																																		KIF25_uc003qwl.1_Intron	0,1				p.P314P	NM_030615	NP_085118			0,1	KIF25_HUMAN	KIF25	HGNC	Q9UIL4	KIF25_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)			8	1204	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	UPI000012DDAB	314					SNV	KIF25,synonymous_variant,p.=,ENST00000443060,;KIF25,synonymous_variant,p.=,ENST00000354419,NM_030615.2;KIF25,intron_variant,,ENST00000351261,NM_005355.3;	uc003qwk.1	c.942G>A	1204/1510	2	2			c.942G>A						6	SNP	c.(940-942)CCG>CCA	18	18			ovary(1)|pancreas(1)	2	Broad	kinesin family member 25 isoform 1			168443353		0.652	ENSG00000125337	8153	g.chr6:168443353G>A	microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity							72.36369	KEEP	16	16	-1	32	21	16	16	-1	73.525813	32	21	0.368421	1	0	0	0	0	0	0	1	0	--	--		0	A			KIF25_uc003qwl.1_Intron	104	GBM-06-6388-TP	p.P314P	G	GCCATGCCCCGTACCGGAACA	NM_030615	NP_085118	168443353	Q9UIL4	KIF25_HUMAN	0		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	8	1204	+	A	A		Breast(66;1.07e-05)|Ovarian(120;0.0728)	Silent	314						
KIF25	0	broad.mit.edu	GRCh37	6	168443352	168443352	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01	TCGA-41-5651-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354419.2:c.941C>T	p.Pro314Leu	p.P314L	ENST00000354419	NM_030615.2	314	cCg/cTg	0	T:0	T:0	1	T:0		T	P/L	uc003qwk.1	protein_coding		CCDS5305.1			941/1155									ovary(1)|pancreas(1)	2	c.(940-942)CCG>CTG			Gene3D:3.40.850.10,Pfam_domain:PF00225,Prints_domain:PR00380,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF327,SMART_domains:SM00129,Superfamily_domains:SSF52540	kinesin family member 25 isoform 1		T:0	T:0.0001	ENSP00000346401	T:0	9-Aug	3.29E-05					1.50E-05		0.000183	rs368749020,COSM3410793	9-Aug	.		ENST00000354419	Transcript		T:0.0002	microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	ENSG00000125337	g.chr6:168443352C>T	6390			MODERATE		3.3	medium	getma.org/?cm=msa&ty=f&p=KIF25_HUMAN&rb=27&re=363&var=P314L	getma.org/pdb.php?prot=KIF25_HUMAN&from=27&to=363&var=P314L	getma.org/?cm=var&var=hg19,6,168443352,C,T&fts=all	P314L	--	--	1																																		KIF25_uc003qwl.1_Intron	0,1			possibly_damaging(0.807)	p.P314L	NM_030615	NP_085118	T:0.001	deleterious(0.03)	0,1	KIF25_HUMAN	KIF25	HGNC	Q9UIL4	KIF25_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)			8	1203	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	UPI000012DDAB	314					SNV	KIF25,missense_variant,p.Pro314Leu,ENST00000443060,;KIF25,missense_variant,p.Pro314Leu,ENST00000354419,NM_030615.2;KIF25,intron_variant,,ENST00000351261,NM_005355.3;	uc003qwk.1	c.941C>T	1203/1510	1	1			c.941C>T						6	SNP	c.(940-942)CCG>CTG	14	14			ovary(1)|pancreas(1)	2	Broad	kinesin family member 25 isoform 1			168443352		0.652	ENSG00000125337	8153	g.chr6:168443352C>T	microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity							59.406727	KEEP	9	12	-1	15	20	9	12	-1	60.006606	15	20	0.384615	1	0	0	0	0	1	0	0	0	--	--		0	T			KIF25_uc003qwl.1_Intron	258	GBM-41-5651-TP	p.P314L	C	GGCCATGCCCCGTACCGGAAC	NM_030615	NP_085118	168443352	Q9UIL4	KIF25_HUMAN	0		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	8	1203	+	T	T		Breast(66;1.07e-05)|Ovarian(120;0.0728)	Missense_Mutation	314						
KIF25	3834		GRCh37	6	168443281	168443281	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000443060.2:c.870G>A	p.Ala290=	p.A290=	ENST00000443060		290	gcG/gcA	0																																																																																																																																																																																																																																												
KIF26A	0	broad.mit.edu	GRCh37	14	104641823	104641823	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-14-1395-01	TCGA-14-1395-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000423312.2:c.2698C>T	p.Arg900Ter	p.R900*	ENST00000423312	NM_015656.1	900	Cga/Tga	0			1			T	R/*	uc001yos.3	protein_coding	YES	CCDS45171.1			2698/5649									pancreas(1)	1	c.(2698-2700)CGA>TGA			hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF407	kinesin family member 26A				ENSP00000388241		15-Dec									COSM3401138	15-Dec	.		ENST00000423312	Transcript			blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	ENSG00000066735	g.chr14:104641823C>T	20226			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,14,104641823,C,T&fts=all	R900*	--	--	1																																			1	1			p.R900*	NM_015656	NP_056471			1	KI26A_HUMAN	KIF26A	HGNC	Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	C9JFF0_HUMAN		12	2698	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	UPI00006C145D	900					SNV	KIF26A,stop_gained,p.Arg761Ter,ENST00000315264,;KIF26A,stop_gained,p.Arg900Ter,ENST00000423312,NM_015656.1;	uc001yos.3	c.2698C>T	2698/5649	5	2			c.2698C>T						14	SNP	c.(2698-2700)CGA>TGA	33	33			pancreas(1)	1	Broad	kinesin family member 26A			104641823		0.692	ENSG00000066735	8154	g.chr14:104641823C>T	blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity							15.140979	KEEP	2	4	-1	7	10	2	4	-1	16.00657	7	10	0.285714	1	0	0	0	0	0	1	0	0	--	--		0	T				144	GBM-14-1395-TP	p.R900*	C	CAGCACCCCTCGAGGCAGTTC	NM_015656	NP_056471	104641823	Q9ULI4	KI26A_HUMAN	0	Epithelial(46;0.152)	Epithelial(152;0.161)	12	2698	+	T	T		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Nonsense_Mutation	900						
KIF26A	0	broad.mit.edu	GRCh37	14	104639702	104639702	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000423312.2:c.1719C>T	p.Ala573=	p.A573=	ENST00000423312	NM_015656.1	573	gcC/gcT	0			1			T	A	uc001yos.3	protein_coding	YES	CCDS45171.1			1719/5649									pancreas(1)	1	c.(1717-1719)GCC>GCT			Gene3D:3.40.850.10,Pfam_domain:PF00225,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF407,Low_complexity_(Seg):seg,SMART_domains:SM00129,Superfamily_domains:SSF52540	kinesin family member 26A				ENSP00000388241		15-Sep	5.06E-05		0.000413	0.000277				9.23E-05	rs753938171,COSM3401137	15-Sep	common_variant		ENST00000423312	Transcript			blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	ENSG00000066735	g.chr14:104639702C>T	20226			LOW								--	--	1																																			0,1	1			p.A573A	NM_015656	NP_056471			0,1	KI26A_HUMAN	KIF26A	HGNC	Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	C9JFF0_HUMAN		9	1719	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	UPI00006C145D	573			Kinesin-motor.		SNV	KIF26A,synonymous_variant,p.=,ENST00000315264,;KIF26A,synonymous_variant,p.=,ENST00000423312,NM_015656.1;	uc001yos.3	c.1719C>T	1719/5649	1	1			c.1719C>T						14	SNP	c.(1717-1719)GCC>GCT	3	3			pancreas(1)	1	Broad	kinesin family member 26A			104639702		0.692	ENSG00000066735	8154	g.chr14:104639702C>T	blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity							6.616251	KEEP	1	2	-1	3	4	1	2	-1	6.976945	3	4	0.3	1	0	0	0	0	0	0	1	0	--	--		0	T				230	GBM-32-1979-TP	p.A573A	C	CACCCACGGCCGAGAAGGCGG	NM_015656	NP_056471	104639702	Q9ULI4	KI26A_HUMAN	0	Epithelial(46;0.152)	Epithelial(152;0.161)	9	1719	+	T	T		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Silent	573			Kinesin-motor.			
KIF26B	0	broad.mit.edu	GRCh37	1	245862232	245862232	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01	TCGA-76-4926-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000407071.2:c.6071G>A	p.Arg2024His	p.R2024H	ENST00000407071	NM_018012.3	2024	cGc/cAc	0		A:0	1	A:0		A	R/H	uc001ibf.1	protein_coding	YES	CCDS44342.1			6071/6327								p.R2024H(1)	ovary(3)	3	c.(6070-6072)CGC>CAC			hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF363	kinesin family member 26B		A:0		ENSP00000385545	A:0.001	14/15									rs199933797,COSM86929,COSM393971	14/15	.		ENST00000407071	Transcript		A:0.0002	microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	ENSG00000162849	g.chr1:245862232G>A	25484			MODERATE		2.22	medium	getma.org/?cm=msa&ty=f&p=KI26B_HUMAN&rb=1990&re=2108&var=R2024H	NA	getma.org/?cm=var&var=hg19,1,245862232,G,A&fts=all	R2024H	--	--	1																																			0,1,1	1		unknown(0)	p.R2024H	NM_018012	NP_060482	A:0	deleterious(0)	0,1,1	KI26B_HUMAN	KIF26B	HGNC	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		B4DF75_HUMAN		14	6511	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		UPI0000695D71	2024					SNV	KIF26B,missense_variant,p.Arg1643His,ENST00000366518,;KIF26B,missense_variant,p.Arg2024His,ENST00000407071,NM_018012.3;	uc001ibf.1	c.6071G>A	6511/7287	2	2			c.6071G>A						1	SNP	c.(6070-6072)CGC>CAC	44	44		p.R2024H(1)	ovary(3)	3	Broad	kinesin family member 26B			245862232		0.572	ENSG00000162849	8155	g.chr1:245862232G>A	microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity							63.015314	KEEP	16	18	-1	30	35	16	18	-1	65.19317	30	35	0.325	1	0	0	0	0	1	0	0	0	--	--		0	A				266	GBM-76-4926-TP	p.R2024H	G	CTGGAACACCGCCAGCAGAGG	NM_018012	NP_060482	245862232	Q2KJY2	KI26B_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.022)		14	6511	+	A	A	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		Missense_Mutation	2024						
KIF27	55582	broad.mit.edu	GRCh37	9	86482718	86482718	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs3199677	by1000genomes	TCGA-02-0003-01	TCGA-02-0003-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297814.2:c.2815C>T	p.Arg939Cys	p.R939C	ENST00000297814	NM_017576.2	939	Cgc/Tgc	0	A:0.0002	A:0	1	A:0		A	R/C	uc004ana.2	protein_coding	YES	CCDS6665.1			2815/4206									lung(4)|skin(1)	5	c.(2815-2817)CGC>TGC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115:SF404,hmmpanther:PTHR24115	kinesin family member 27		A:0	A:0	ENSP00000297814	A:0.001	13/18	0.000148	9.62E-05	0.000952	0.000231		6.00E-05			rs3199677,COSM197498	13/18	common_variant		ENST00000297814	Transcript		A:0.0002	cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	ENSG00000165115	g.chr9:86482718G>A	18632			MODERATE		2.19	medium	getma.org/?cm=msa&ty=f&p=KIF27_HUMAN&rb=355&re=1040&var=R939C	NA	getma.org/?cm=var&var=hg19,9,86482718,G,A&fts=all	R939C	--	--	1																																		KIF27_uc010mpw.2_Missense_Mutation_p.R873C|KIF27_uc010mpx.2_Intron	0,1	1		probably_damaging(0.931)	p.R939C	NM_017576	NP_060046	A:0	deleterious(0)	0,1	KIF27_HUMAN	KIF27	HGNC	Q86VH2	KIF27_HUMAN			B4DMY5_HUMAN		13	2959	-			UPI000018F32F	939			Potential.		SNV	KIF27,missense_variant,p.Arg939Cys,ENST00000297814,NM_017576.2;KIF27,missense_variant,p.Arg873Cys,ENST00000413982,NM_001271927.1;KIF27,intron_variant,,ENST00000334204,NM_001271928.1;RP11-575L7.4,non_coding_transcript_exon_variant,,ENST00000589233,;RP11-575L7.4,non_coding_transcript_exon_variant,,ENST00000591217,;RP11-575L7.4,non_coding_transcript_exon_variant,,ENST00000421734,;RP11-575L7.4,non_coding_transcript_exon_variant,,ENST00000589817,;RP11-575L7.4,non_coding_transcript_exon_variant,,ENST00000586211,;RP11-575L7.4,downstream_gene_variant,,ENST00000590368,;	uc004ana.2	c.2815C>T	2959/4653	1	1			c.2815C>T						9	SNP	c.(2815-2817)CGC>TGC	52	52			lung(4)|skin(1)	5	Broad	kinesin family member 27			86482718		0.373	ENSG00000165115	8156	g.chr9:86482718G>A	cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity							116.322787	KEEP	36	25	-1	47	60	36	25	-1	120.289562	47	60	0.321429	1	0	0	0	0	1	0	0	0	--	--		0	A			KIF27_uc010mpw.2_Missense_Mutation_p.R873C|KIF27_uc010mpx.2_Intron	1	GBM-02-0003-TP	p.R939C	G	AATTCTTGGCGTTGGTTCAGA	NM_017576	NP_060046	86482718	Q86VH2	KIF27_HUMAN	0			13	2959	-	A	A			Missense_Mutation	939			Potential.			
KIF2B	84643	broad.mit.edu	GRCh37	17	51900728	51900728	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268919.4:c.334G>A	p.Ala112Thr	p.A112T	ENST00000268919	NM_032559.4	112	Gcc/Acc	0			1			A	A/T	uc002iua.2	protein_coding	YES	CCDS32685.1			334/2022									ovary(5)|skin(3)	8	c.(334-336)GCC>ACC				kinesin family member 2B				ENSP00000268919		1-Jan	2.47E-05		8.64E-05	0.000116				6.06E-05	rs753464095,COSM1212459	1-Jan	.		ENST00000268919	Transcript			blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	ENSG00000141200	g.chr17:51900728G>A	29443			MODERATE		0.2	neutral	getma.org/?cm=msa&ty=f&p=KIF2B_HUMAN&rb=1&re=200&var=A112T	NA	getma.org/?cm=var&var=hg19,17,51900728,G,A&fts=all	A112T	--	--	1																																		uc010wna.1_RNA	0,1	1		benign(0.002)	p.A112T	NM_032559	NP_115948		tolerated(0.2)	0,1	KIF2B_HUMAN	KIF2B	HGNC	Q8N4N8	KIF2B_HUMAN					1	490	+			UPI000013D7E6	112					SNV	KIF2B,missense_variant,p.Ala112Thr,ENST00000268919,NM_032559.4;	uc002iua.2	c.334G>A	490/2335	1	1			c.334G>A						17	SNP	c.(334-336)GCC>ACC	55	55			ovary(5)|skin(3)	8	Broad	kinesin family member 2B			51900728		0.602	ENSG00000141200	8158	g.chr17:51900728G>A	blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity							206.630846	KEEP	33	43	-1	55	52	33	43	-1	207.889597	55	52	0.410112	1	0	0	0	0	1	0	0	0	--	--		0	A			uc010wna.1_RNA	18	GBM-06-0137-TP	p.A112T	G	CCAGCGTACCGCCACGAAATG	NM_032559	NP_115948	51900728	Q8N4N8	KIF2B_HUMAN	0			1	490	+	A	A			Missense_Mutation	112						
KIF2B	84643	broad.mit.edu	GRCh37	17	51901522	51901522	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0877-01	TCGA-06-0877-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268919.4:c.1129del	p.Glu378ArgfsTer24	p.E378Rfs*24	ENST00000268919	NM_032559.4	376	gtC/gt	0			1			-	V/X	uc002iua.2	protein_coding	YES	CCDS32685.1			1128/2022									ovary(5)|skin(3)	8	c.(1126-1128)GTCfs			PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF379,hmmpanther:PTHR24115,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540	kinesin family member 2B				ENSP00000268919		1-Jan									COSM2152167	1-Jan	.		ENST00000268919	Transcript			blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	ENSG00000141200	g.chr17:51901522delC	29443	1		HIGH								--	--	1																																		uc010wna.1_RNA	1	1			p.V376fs	NM_032559	NP_115948			1	KIF2B_HUMAN	KIF2B	HGNC	Q8N4N8	KIF2B_HUMAN					1	1284	+			UPI000013D7E6	376			Kinesin-motor.		deletion	KIF2B,frameshift_variant,p.Glu378ArgfsTer24,ENST00000268919,NM_032559.4;	uc002iua.2	c.1128delC	1284/2335	5	5			c.1128delC						17	DEL	c.(1126-1128)GTCfs	50	50			ovary(5)|skin(3)	8	Broad	kinesin family member 2B			51901522		0.468	ENSG00000141200	8158	g.chr17:51901522delC	blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity																				0.28	1	1	0	1	0	0	0	0	0	--	--		0	-			uc010wna.1_RNA	73	GBM-06-0877-TP	p.V376fs	C	AGCTGCAAGTCCTTGAGGATG	NM_032559	NP_115948	51901522	Q8N4N8	KIF2B_HUMAN	0			1	1284	+	-	-			Frame_Shift_Del	376			Kinesin-motor.			
KIF2B	0	broad.mit.edu	GRCh37	17	51901460	51901460	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-28-1753-01	TCGA-28-1753-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268919.4:c.1066T>A	p.Phe356Ile	p.F356I	ENST00000268919	NM_032559.4	356	Ttt/Att	0			1			A	F/I	uc002iua.2	protein_coding	YES	CCDS32685.1			1066/2022									ovary(5)|skin(3)	8	c.(1066-1068)TTT>ATT			PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF379,hmmpanther:PTHR24115,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540	kinesin family member 2B				ENSP00000268919		1-Jan									COSM3403020	1-Jan	.		ENST00000268919	Transcript			blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	ENSG00000141200	g.chr17:51901460T>A	29443			MODERATE		3.025	medium	getma.org/?cm=msa&ty=f&p=KIF2B_HUMAN&rb=219&re=543&var=F356I	getma.org/pdb.php?prot=KIF2B_HUMAN&from=219&to=543&var=F356I	getma.org/?cm=var&var=hg19,17,51901460,T,A&fts=all	F356I	--	--	1																																		uc010wna.1_RNA	1	1		probably_damaging(0.999)	p.F356I	NM_032559	NP_115948		deleterious(0)	1	KIF2B_HUMAN	KIF2B	HGNC	Q8N4N8	KIF2B_HUMAN					1	1222	+			UPI000013D7E6	356			Kinesin-motor.		SNV	KIF2B,missense_variant,p.Phe356Ile,ENST00000268919,NM_032559.4;	uc002iua.2	c.1066T>A	1222/2335	2	2			c.1066T>A						17	SNP	c.(1066-1068)TTT>ATT	32	32			ovary(5)|skin(3)	8	Broad	kinesin family member 2B			51901460		0.453	ENSG00000141200	8158	g.chr17:51901460T>A	blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity							126.595753	KEEP	30	24	-1	67	75	30	24	-1	136.006125	67	75	0.263441	1	0	0	0	0	1	0	0	0	--	--		0	A			uc010wna.1_RNA	207	GBM-28-1753-TP	p.F356I	T	CTATGGGACATTTTTTGAGAT	NM_032559	NP_115948	51901460	Q8N4N8	KIF2B_HUMAN	0			1	1222	+	A	A			Missense_Mutation	356			Kinesin-motor.			
KIF2B	0	broad.mit.edu	GRCh37	17	51901070	51901070	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268919.4:c.676C>T	p.Arg226Ter	p.R226*	ENST00000268919	NM_032559.4	226	Cga/Tga	0		T:0	1	T:0		T	R/*	uc002iua.2	protein_coding	YES	CCDS32685.1			676/2022									ovary(5)|skin(3)	8	c.(676-678)CGA>TGA			PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF379,hmmpanther:PTHR24115,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540	kinesin family member 2B		T:0		ENSP00000268919	T:0	1-Jan	2.47E-05							0.000182	rs543871191,COSM3403019	1-Jan	.		ENST00000268919	Transcript		T:0.0004	blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	ENSG00000141200	g.chr17:51901070C>T	29443			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,17,51901070,C,T&fts=all	R226*	--	--	1																																		uc010wna.1_RNA	0,1	1			p.R226*	NM_032559	NP_115948	T:0.002		0,1	KIF2B_HUMAN	KIF2B	HGNC	Q8N4N8	KIF2B_HUMAN					1	832	+			UPI000013D7E6	226			Kinesin-motor.		SNV	KIF2B,stop_gained,p.Arg226Ter,ENST00000268919,NM_032559.4;	uc002iua.2	c.676C>T	832/2335	5	2			c.676C>T						17	SNP	c.(676-678)CGA>TGA	23	23			ovary(5)|skin(3)	8	Broad	kinesin family member 2B			51901070		0.557	ENSG00000141200	8158	g.chr17:51901070C>T	blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity							32.638706	KEEP	9	8	-1	17	46	9	8	-1	38.755873	17	46	0.207792	1	0	0	0	0	0	1	0	0	--	--		0	T			uc010wna.1_RNA	229	GBM-32-1977-TP	p.R226*	C	TCTCAACCAGCGAGAGACAAC	NM_032559	NP_115948	51901070	Q8N4N8	KIF2B_HUMAN	0			1	832	+	T	T			Nonsense_Mutation	226			Kinesin-motor.			
KIF2B	0	broad.mit.edu	GRCh37	17	51900577	51900577	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-76-4935-01	TCGA-76-4935-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268919.4:c.183G>T	p.Val61=	p.V61=	ENST00000268919	NM_032559.4	61	gtG/gtT	0			1			T	V	uc002iua.2	protein_coding	YES	CCDS32685.1			183/2022									ovary(5)|skin(3)	8	c.(181-183)GTG>GTT				kinesin family member 2B				ENSP00000268919		1-Jan									COSM3403017	1-Jan	.		ENST00000268919	Transcript			blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	ENSG00000141200	g.chr17:51900577G>T	29443			LOW								--	--	1																																			1	1			p.V61V	NM_032559	NP_115948			1	KIF2B_HUMAN	KIF2B	HGNC	Q8N4N8	KIF2B_HUMAN					1	339	+			UPI000013D7E6	61					SNV	KIF2B,synonymous_variant,p.=,ENST00000268919,NM_032559.4;	uc002iua.2	c.183G>T	339/2335	2	2			c.183G>T						17	SNP	c.(181-183)GTG>GTT	41	41			ovary(5)|skin(3)	8	Broad	kinesin family member 2B			51900577		0.557	ENSG00000141200	8158	g.chr17:51900577G>T	blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity							-12.944194	KEEP	10	5	0.666666667	91	94	10	5	0.666666667	22.425017	91	94	0.066298	1	0	0	0	0	0	0	1	0	--	--		0	T				273	GBM-76-4935-TP	p.V61V	G	TAGAGTGGGTGGAGAAAGCAG	NM_032559	NP_115948	51900577	Q8N4N8	KIF2B_HUMAN	0			1	339	+	T	T			Silent	61						
KIF2B	0	broad.mit.edu	GRCh37	17	51900579	51900579	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-4935-01	TCGA-76-4935-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268919.4:c.185A>G	p.Glu62Gly	p.E62G	ENST00000268919	NM_032559.4	62	gAg/gGg	0			1			G	E/G	uc002iua.2	protein_coding	YES	CCDS32685.1			185/2022									ovary(5)|skin(3)	8	c.(184-186)GAG>GGG				kinesin family member 2B				ENSP00000268919		1-Jan									COSM3748017	1-Jan	.		ENST00000268919	Transcript			blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	ENSG00000141200	g.chr17:51900579A>G	29443			MODERATE		2.27	medium	getma.org/?cm=msa&ty=f&p=KIF2B_HUMAN&rb=1&re=200&var=E62G	NA	getma.org/?cm=var&var=hg19,17,51900579,A,G&fts=all	E62G	--	--	1																																			1	1		probably_damaging(0.998)	p.E62G	NM_032559	NP_115948		deleterious(0)	1	KIF2B_HUMAN	KIF2B	HGNC	Q8N4N8	KIF2B_HUMAN					1	341	+			UPI000013D7E6	62					SNV	KIF2B,missense_variant,p.Glu62Gly,ENST00000268919,NM_032559.4;	uc002iua.2	c.185A>G	341/2335	4	4			c.185A>G						17	SNP	c.(184-186)GAG>GGG	17	17			ovary(5)|skin(3)	8	Broad	kinesin family member 2B			51900579		0.552	ENSG00000141200	8158	g.chr17:51900579A>G	blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity							-4.252863	KEEP	9	7	-1	94	92	9	7	-1	30.694193	94	92	0.066667	1	0	0	0	0	1	0	0	0	--	--		0	G				273	GBM-76-4935-TP	p.E62G	A	GAGTGGGTGGAGAAAGCAGTC	NM_032559	NP_115948	51900579	Q8N4N8	KIF2B_HUMAN	0			1	341	+	G	G			Missense_Mutation	62						
KIF2B	84643		GRCh37	17	51900723	51900723	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000268919.4:c.329G>A	p.Arg110His	p.R110H	ENST00000268919	NM_032559.4	110	cGt/cAt	0																																																																																																																																																																																																																																												
KIF2B	84643		GRCh37	17	51901778	51901778	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000268919.4:c.1384C>T	p.Arg462Trp	p.R462W	ENST00000268919	NM_032559.4	462	Cgg/Tgg	0																																																																																																																																																																																																																																												
KIF3A	11127	broad.mit.edu	GRCh37	5	132038627	132038627	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0209-01	TCGA-06-0209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378746.4:c.1516G>T	p.Glu506Ter	p.E506*	ENST00000378746	NM_007054.5	506	Gaa/Taa	0			1			A	E/*	uc003kxo.2	protein_coding	YES	CCDS34235.1			1516/2100									pancreas(1)	1	c.(1516-1518)GAA>TAA			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115:SF53,hmmpanther:PTHR24115	kinesin family member 3A				ENSP00000368020		17-Nov									COSM3409732,COSM3409733	17-Nov	.		ENST00000378746	Transcript			blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding	ENSG00000131437	g.chr5:132038627C>A	6319			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,5,132038627,C,A&fts=all	E506*	--	--	1																																		KIF3A_uc003kxm.2_Nonsense_Mutation_p.E88*|KIF3A_uc003kxn.2_Nonsense_Mutation_p.E491*|KIF3A_uc011cxf.1_Nonsense_Mutation_p.E533*|KIF3A_uc003kxp.2_Nonsense_Mutation_p.E509*	1,1	1			p.E506*	NM_007054	NP_008985			1,1	KIF3A_HUMAN	KIF3A	HGNC	Q9Y496	KIF3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)				11	1670	-		all_cancers(142;0.0751)|Breast(839;0.198)	UPI000035B258	506			Potential.		SNV	KIF3A,stop_gained,p.Glu506Ter,ENST00000378746,NM_007054.5;KIF3A,stop_gained,p.Glu509Ter,ENST00000378735,;KIF3A,stop_gained,p.Glu533Ter,ENST00000403231,;KIF3A,stop_gained,p.Glu34Ter,ENST00000450441,;AC004237.1,intron_variant,,ENST00000431165,;KIF3A,non_coding_transcript_exon_variant,,ENST00000487055,;KIF3A,upstream_gene_variant,,ENST00000488471,;	uc003kxo.2	c.1516G>T	1735/6325	5	2			c.1516G>T						5	SNP	c.(1516-1518)GAA>TAA	34	34			pancreas(1)	1	Broad	kinesin family member 3A			132038627		0.408	ENSG00000131437	8160	g.chr5:132038627C>A	blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding							415.76809	KEEP	84	88	0.511627907	176	182	84	88	0.511627907	427.21176	176	182	0.332609	1	0	0	0	0	0	1	0	0	--	--		0	A			KIF3A_uc003kxm.2_Nonsense_Mutation_p.E88*|KIF3A_uc003kxn.2_Nonsense_Mutation_p.E491*|KIF3A_uc011cxf.1_Nonsense_Mutation_p.E533*|KIF3A_uc003kxp.2_Nonsense_Mutation_p.E509*	46	GBM-06-0209-TP	p.E506*	C	TTCCTCCTTTCTTCCAGTTCC	NM_007054	NP_008985	132038627	Q9Y496	KIF3A_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		11	1670	-	A	A		all_cancers(142;0.0751)|Breast(839;0.198)	Nonsense_Mutation	506			Potential.			
KIF4A	24137	broad.mit.edu	GRCh37	X	69626855	69626855	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0145-01	TCGA-06-0145-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374403.3:c.3185A>G	p.Asp1062Gly	p.D1062G	ENST00000374403	NM_012310.4	1062	gAt/gGt	0			1			G	D/G	uc004dyg.2	protein_coding	YES	CCDS14401.1			3185/3699									ovary(4)	4	c.(3184-3186)GAT>GGT			Low_complexity_(Seg):seg,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF393	kinesin family member 4				ENSP00000363524		28/31									COSM2149696	28/31	.		ENST00000374403	Transcript			anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	ENSG00000090889	g.chrX:69626855A>G	13339			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=KIF4A_HUMAN&rb=378&re=1230&var=D1062G	NA	getma.org/?cm=var&var=hg19,X,69626855,A,G&fts=all	D1062G	--	--	1																																		KIF4A_uc010nkw.2_Missense_Mutation_p.D1062G	1	1		benign(0)	p.D1062G	NM_012310	NP_036442		tolerated(0.2)	1	KIF4A_HUMAN	KIF4A	HGNC	O95239	KIF4A_HUMAN					28	3312	+			UPI000013D32A	1062			Globular.|Interaction with PRC1.		SNV	KIF4A,missense_variant,p.Asp1062Gly,ENST00000374403,NM_012310.4;KIF4A,missense_variant,p.Asp1062Gly,ENST00000374388,;	uc004dyg.2	c.3185A>G	3267/4348	4	4			c.3185A>G						23	SNP	c.(3184-3186)GAT>GGT	30	30			ovary(4)	4	Broad	kinesin family member 4			69626855		0.303	ENSG00000090889	8163	g.chrX:69626855A>G	anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding							68.294708	KEEP	7	14	-1	18	12	7	14	-1	68.730549	18	12	0.4	1	0	0	0	0	1	0	0	0	--	--		0	G			KIF4A_uc010nkw.2_Missense_Mutation_p.D1062G	23	GBM-06-0145-TP	p.D1062G	A	gatggtgatgatgatgagggg	NM_012310	NP_036442	69626855	O95239	KIF4A_HUMAN	0			28	3312	+	G	G			Missense_Mutation	1062			Globular.|Interaction with PRC1.			
KIF4B	285643	broad.mit.edu	GRCh37	5	154396823	154396823	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0214-01	TCGA-06-0214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000435029.4:c.3404C>A	p.Thr1135Asn	p.T1135N	ENST00000435029	NM_001099293.1	1135	aCc/aAc	0			1			A	T/N	uc010jih.1	protein_coding	YES	CCDS47324.1			3404/3705									ovary(1)	1	c.(3403-3405)ACC>AAC			hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF392	kinesin family member 4B				ENSP00000387875		1-Jan									COSM3410043,COSM3410044	1-Jan	.		ENST00000435029	Transcript			axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	ENSG00000226650	g.chr5:154396823C>A	6322			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=KIF4B_HUMAN&rb=378&re=1232&var=T1135N	NA	getma.org/?cm=var&var=hg19,5,154396823,C,A&fts=all	T1135N	--	--	1																																			1,1	1		benign(0.003)	p.T1135N	NM_001099293	NP_001092763		tolerated_low_confidence(0.19)	1,1	KIF4B_HUMAN	KIF4B	HGNC	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)				1	3564	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	UPI000013D5DB	1135			Interaction with PRC1 (By similarity).|Globular (By similarity).		SNV	KIF4B,missense_variant,p.Thr1135Asn,ENST00000435029,NM_001099293.1;	uc010jih.1	c.3404C>A	3564/4426	1	1			c.3404C>A						5	SNP	c.(3403-3405)ACC>AAC	61	61			ovary(1)	1	Broad	kinesin family member 4B			154396823		0.537	ENSG00000226650	8164	g.chr5:154396823C>A	axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity							96.825542	KEEP	18	19	0.513513514	37	43	18	19	0.513513514	99.583056	37	43	0.326923	1	0	0	0	0	1	0	0	0	--	--		0	A				50	GBM-06-0214-TP	p.T1135N	C	GTTGAACAGACCCAGGATTCC	NM_001099293	NP_001092763	154396823	Q2VIQ3	KIF4B_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	3564	+	A	A	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Missense_Mutation	1135			Interaction with PRC1 (By similarity).|Globular (By similarity).			
KIF4B	285643	broad.mit.edu	GRCh37	5	154395374	154395374	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0237-01	TCGA-06-0237-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000435029.4:c.1955G>A	p.Arg652His	p.R652H	ENST00000435029	NM_001099293.1	652	cGt/cAt	0		A:0	1	A:0		A	R/H	uc010jih.1	protein_coding	YES	CCDS47324.1			1955/3705									ovary(1)	1	c.(1954-1956)CGT>CAT			hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF392	kinesin family member 4B		A:0.001		ENSP00000387875	A:0	1-Jan	7.41E-05					0.00012		6.06E-05	rs199820075,COSM590778,COSM590779	1-Jan	.		ENST00000435029	Transcript		A:0.0002	axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	ENSG00000226650	g.chr5:154395374G>A	6322			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=KIF4B_HUMAN&rb=378&re=1232&var=R652H	NA	getma.org/?cm=var&var=hg19,5,154395374,G,A&fts=all	R652H	--	--	1																																			0,1,1	1		benign(0.035)	p.R652H	NM_001099293	NP_001092763	A:0	tolerated(0.06)	0,1,1	KIF4B_HUMAN	KIF4B	HGNC	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)				1	2115	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	UPI000013D5DB	652			Potential.		SNV	KIF4B,missense_variant,p.Arg652His,ENST00000435029,NM_001099293.1;	uc010jih.1	c.1955G>A	2115/4426	1	1			c.1955G>A						5	SNP	c.(1954-1956)CGT>CAT	51	51			ovary(1)	1	Broad	kinesin family member 4B			154395374		0.408	ENSG00000226650	8164	g.chr5:154395374G>A	axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity							217.684549	KEEP	38	37	-1	52	51	38	37	-1	218.118952	52	51	0.444444	1	0	0	0	0	1	0	0	0	--	--		0	A				54	GBM-06-0237-TP	p.R652H	G	CAGTTAATGCGTCAAATGAAA	NM_001099293	NP_001092763	154395374	Q2VIQ3	KIF4B_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	2115	+	A	A	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Missense_Mutation	652			Potential.			
KIF4B	0	broad.mit.edu	GRCh37	5	154396976	154396976	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-1825-01	TCGA-14-1825-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000435029.4:c.3557C>A	p.Ala1186Asp	p.A1186D	ENST00000435029	NM_001099293.1	1186	gCt/gAt	0			1			A	A/D	uc010jih.1	protein_coding	YES	CCDS47324.1			3557/3705									ovary(1)	1	c.(3556-3558)GCT>GAT				kinesin family member 4B				ENSP00000387875		1-Jan									COSM3410045,COSM3410046	1-Jan	.		ENST00000435029	Transcript			axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	ENSG00000226650	g.chr5:154396976C>A	6322			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=KIF4B_HUMAN&rb=378&re=1232&var=A1186D	NA	getma.org/?cm=var&var=hg19,5,154396976,C,A&fts=all	A1186D	--	--	1																																			1,1	1		benign(0.005)	p.A1186D	NM_001099293	NP_001092763		tolerated_low_confidence(0.21)	1,1	KIF4B_HUMAN	KIF4B	HGNC	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)				1	3717	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	UPI000013D5DB	1186			Interaction with PRC1 (By similarity).|Globular (By similarity).		SNV	KIF4B,missense_variant,p.Ala1186Asp,ENST00000435029,NM_001099293.1;	uc010jih.1	c.3557C>A	3717/4426	2	2			c.3557C>A						5	SNP	c.(3556-3558)GCT>GAT	32	32			ovary(1)	1	Broad	kinesin family member 4B			154396976		0.493	ENSG00000226650	8164	g.chr5:154396976C>A	axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity							86.669187	KEEP	17	13	0.433333333	20	15	17	13	0.433333333	86.683809	20	15	0.483333	1	0	0	0	0	1	0	0	0	--	--		0	A				148	GBM-14-1825-TP	p.A1186D	C	ACTGCTCCAGCTCCCTCCCCT	NM_001099293	NP_001092763	154396976	Q2VIQ3	KIF4B_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	3717	+	A	A	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Missense_Mutation	1186			Interaction with PRC1 (By similarity).|Globular (By similarity).			
KIF4B	0	broad.mit.edu	GRCh37	5	154396474	154396474	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1836-01	TCGA-27-1836-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000435029.4:c.3055G>A	p.Glu1019Lys	p.E1019K	ENST00000435029	NM_001099293.1	1019	Gaa/Aaa	0			1			A	E/K	uc010jih.1	protein_coding	YES	CCDS47324.1			3055/3705									ovary(1)	1	c.(3055-3057)GAA>AAA			hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF392	kinesin family member 4B				ENSP00000387875		1-Jan									COSM3410041,COSM3410042	1-Jan	.		ENST00000435029	Transcript			axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	ENSG00000226650	g.chr5:154396474G>A	6322			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=KIF4B_HUMAN&rb=378&re=1232&var=E1019K	NA	getma.org/?cm=var&var=hg19,5,154396474,G,A&fts=all	E1019K	--	--	1																																			1,1	1		possibly_damaging(0.493)	p.E1019K	NM_001099293	NP_001092763		tolerated(0.18)	1,1	KIF4B_HUMAN	KIF4B	HGNC	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)				1	3215	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	UPI000013D5DB	1019			Interaction with PRC1 (By similarity).|Globular (By similarity).		SNV	KIF4B,missense_variant,p.Glu1019Lys,ENST00000435029,NM_001099293.1;	uc010jih.1	c.3055G>A	3215/4426	2	2			c.3055G>A						5	SNP	c.(3055-3057)GAA>AAA	44	44			ovary(1)	1	Broad	kinesin family member 4B			154396474		0.403	ENSG00000226650	8164	g.chr5:154396474G>A	axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity							214.223899	KEEP	39	44	-1	92	100	39	44	-1	221.663897	92	100	0.31405	1	0	0	0	0	1	0	0	0	--	--		0	A				195	GBM-27-1836-TP	p.E1019K	G	CTCTTCTTTTGAATATATCCC	NM_001099293	NP_001092763	154396474	Q2VIQ3	KIF4B_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	3215	+	A	A	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Missense_Mutation	1019			Interaction with PRC1 (By similarity).|Globular (By similarity).			
KIF4B	0	broad.mit.edu	GRCh37	5	154393566	154393566	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-4934-01	TCGA-76-4934-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000435029.4:c.147C>G	p.Phe49Leu	p.F49L	ENST00000435029	NM_001099293.1	49	ttC/ttG	0			1			G	F/L	uc010jih.1	protein_coding	YES	CCDS47324.1			147/3705									ovary(1)	1	c.(145-147)TTC>TTG			Gene3D:3.40.850.10,Pfam_domain:PF00225,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF392,SMART_domains:SM00129,Superfamily_domains:SSF52540	kinesin family member 4B				ENSP00000387875		1-Jan									COSM3410037,COSM3410038	1-Jan	.		ENST00000435029	Transcript			axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	ENSG00000226650	g.chr5:154393566C>G	6322			MODERATE		3.835	high	getma.org/?cm=msa&ty=f&p=KIF4B_HUMAN&rb=15&re=336&var=F49L	getma.org/pdb.php?prot=KIF4B_HUMAN&from=15&to=336&var=F49L	getma.org/?cm=var&var=hg19,5,154393566,C,G&fts=all	F49L	--	--	1																																			1,1	1		probably_damaging(1)	p.F49L	NM_001099293	NP_001092763		deleterious(0)	1,1	KIF4B_HUMAN	KIF4B	HGNC	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)				1	307	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	UPI000013D5DB	49			Kinesin-motor.		SNV	KIF4B,missense_variant,p.Phe49Leu,ENST00000435029,NM_001099293.1;	uc010jih.1	c.147C>G	307/4426	3	3			c.147C>G						5	SNP	c.(145-147)TTC>TTG	8	8			ovary(1)	1	Broad	kinesin family member 4B			154393566		0.488	ENSG00000226650	8164	g.chr5:154393566C>G	axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity							167.814473	KEEP	28	25	-1	51	62	28	25	-1	172.342877	51	62	0.318182	1	0	0	0	0	1	0	0	0	--	--		0	G				272	GBM-76-4934-TP	p.F49L	C	ATAAATCCTTCACCTACGATT	NM_001099293	NP_001092763	154393566	Q2VIQ3	KIF4B_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	307	+	G	G	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Missense_Mutation	49			Kinesin-motor.			
KIF5B	0	broad.mit.edu	GRCh37	10	32306085	32306085	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-1753-01	TCGA-28-1753-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302418.4:c.2747A>G	p.His916Arg	p.H916R	ENST00000302418	NM_004521.2	916	cAt/cGt	0	C:0		1			C	H/R	uc001iwe.3	protein_coding	YES	CCDS7171.1			2747/2892							KIF5B/ALK(4)		lung(4)|ovary(1)	5	c.(2746-2748)CAT>CGT			hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF380	kinesin family member 5B			C:0.0001	ENSP00000307078		24/26									rs200775134,COSM3397094,COSM3397093	24/26	.		ENST00000302418	Transcript			stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	ENSG00000170759	g.chr10:32306085T>C	6324			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=KINH_HUMAN&rb=700&re=960&var=H916R	NA	getma.org/?cm=var&var=hg19,10,32306085,T,C&fts=all	H916R	--	--	1																																			0,1,1	1		benign(0.276)	p.H916R	NM_004521	NP_004512		tolerated(0.08)	0,1,1	KINH_HUMAN	KIF5B	HGNC	P33176	KINH_HUMAN			A8K048_HUMAN		24	3217	-		Prostate(175;0.0137)	UPI000012DE68	916			Globular.		SNV	KIF5B,missense_variant,p.His916Arg,ENST00000302418,NM_004521.2;KIF5B,downstream_gene_variant,,ENST00000493889,;	uc001iwe.3	c.2747A>G	3205/5877	3	3			c.2747A>G						10	SNP	c.(2746-2748)CAT>CGT	51	51	KIF5B/ALK(4)		lung(4)|ovary(1)	5	Broad	kinesin family member 5B			32306085		0.383	ENSG00000170759	8166	g.chr10:32306085T>C	stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity							508.873293	KEEP	81	83	-1	91	85	81	83	-1	508.957282	91	85	0.482201	1	0	0	0	0	1	0	0	0	--	--		0	C				207	GBM-28-1753-TP	p.H916R	T	CTGTGCAGAATGCCCTCTTCT	NM_004521	NP_004512	32306085	P33176	KINH_HUMAN	0			24	3217	-	C	C		Prostate(175;0.0137)	Missense_Mutation	916			Globular.			
KIF5C	3800	broad.mit.edu	GRCh37	2	149866823	149866823	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-2565-01	TCGA-06-2565-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000435030.1:c.2725C>A	p.Arg909=	p.R909=	ENST00000435030		909	Cgg/Agg	0			1			A	R	uc010zbu.1	protein_coding	YES				2725/2874									skin(1)	1	c.(2725-2727)CGG>AGG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF365	kinesin family member 5C				ENSP00000393379		24/26									COSM3406926,COSM3406925	24/26	.		ENST00000435030	Transcript	1		microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	ENSG00000168280	g.chr2:149866823C>A	6325			LOW								--	--	1																																		KIF5C_uc002tws.1_RNA|KIF5C_uc002twu.1_Silent_p.R191R	1,1	1			p.R909R	NM_004522	NP_004513			1,1	KIF5C_HUMAN	KIF5C	HGNC	O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	Q9UFW7_HUMAN,Q57Z91_HUMAN,Q57YV6_HUMAN,Q57YV5_HUMAN,Q53QT4_HUMAN,C9JWB9_HUMAN		24	3093	+			UPI000012DDB7	909			|Globular.		SNV	KIF5C,synonymous_variant,p.=,ENST00000435030,;KIF5C,synonymous_variant,p.=,ENST00000414838,NM_004522.2_dupl6;KIF5C,synonymous_variant,p.=,ENST00000397413,;KIF5C,non_coding_transcript_exon_variant,,ENST00000464066,;KIF5C,non_coding_transcript_exon_variant,,ENST00000482151,;	uc010zbu.1	c.2725C>A	3093/6931	2	2			c.2725C>A						2	SNP	c.(2725-2727)CGG>AGG	17	17			skin(1)	1	Broad	kinesin family member 5C			149866823		0.632	ENSG00000168280	8167	g.chr2:149866823C>A	microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity							11.764107	KEEP	3	1	0.25	0	3	3	1	0.25	11.901673	0	3	0.666667	1	0	0	0	0	0	0	1	0	--	--		0	A			KIF5C_uc002tws.1_RNA|KIF5C_uc002twu.1_Silent_p.R191R	88	GBM-06-2565-TP	p.R909R	C	GGAGGCCGTGCGGGCCAAGAA	NM_004522	NP_004513	149866823	O60282	KIF5C_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.108)	24	3093	+	A	A			Silent	909			|Globular.			
KIF5C	0	broad.mit.edu	GRCh37	2	149793797	149793797	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A			TCGA-32-4209-01	TCGA-32-4209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000435030.1:c.292-1G>A		p.X98_splice	ENST00000435030				0			1			A		uc010zbu.1	protein_coding	YES				292/2874									skin(1)	1	c.e4-1				kinesin family member 5C				ENSP00000393379											COSM3406922		.		ENST00000435030	Transcript	1		microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	ENSG00000168280	g.chr2:149793797G>A	6325			HIGH	25-Mar							--	--	1																																			1	1			p.G98_splice	NM_004522	NP_004513			1	KIF5C_HUMAN	KIF5C	HGNC	O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	Q9UFW7_HUMAN,Q57Z91_HUMAN,Q57YV6_HUMAN,Q57YV5_HUMAN,Q53QT4_HUMAN,C9JWB9_HUMAN		4	660	+			UPI000012DDB7						SNV	KIF5C,splice_acceptor_variant,,ENST00000435030,;KIF5C,splice_acceptor_variant,,ENST00000414838,NM_004522.2_dupl6;	uc010zbu.1	c.292_splice	-/6931	5	2			c.292_splice						2	SNP	c.e4-1	46	46			skin(1)	1	Broad	kinesin family member 5C			149793797		0.512	ENSG00000168280	8167	g.chr2:149793797G>A	microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity							2.531166	KEEP	2	0	-1	9	14	2	0	-1	6.503589	9	14	0.086957	1	0	0	0	0	0	0	0	1	--	--		0	A				244	GBM-32-4209-TP	p.G98_splice	G	TCGCCCACTAGGGGAAGCTGC	NM_004522	NP_004513	149793797	O60282	KIF5C_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.108)	4	660	+	A	A			Splice_Site							
KIF7	0	broad.mit.edu	GRCh37	15	90189143	90189143	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs150543610		TCGA-28-5216-01	TCGA-28-5216-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394412.3:c.1903C>T	p.Arg635Trp	p.R635W	ENST00000394412	NM_198525.2	635	Cgg/Tgg	0	A:0.0005		1			A	R/W	uc002bof.2	protein_coding	YES	CCDS32325.2			1903/4032									ovary(2)|lung(1)	3	c.(1903-1905)CGG>TGG			hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF342	kinesin family member 7			A:0	ENSP00000377934		19-Aug	8.24E-05	0.000483				6.04E-05		6.07E-05	rs150543610,COSM966366,COSM966365	19-Aug	common_variant		ENST00000394412	Transcript	1		microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	ENSG00000166813	g.chr15:90189143G>A	30497			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=KIF7_HUMAN&rb=360&re=1027&var=R635W	NA	getma.org/?cm=var&var=hg19,15,90189143,G,A&fts=all	R635W	--	--	1																																		KIF7_uc010upw.1_Missense_Mutation_p.R122W	0,1,1	1		possibly_damaging(0.487)	p.R635W	NM_198525	NP_940927		deleterious(0.04)	0,1,1	KIF7_HUMAN	KIF7	HGNC	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		B7ZKY4_HUMAN		8	1980	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		UPI00015F81C7	635					SNV	KIF7,missense_variant,p.Arg635Trp,ENST00000394412,NM_198525.2;KIF7,downstream_gene_variant,,ENST00000445906,;	uc002bof.2	c.1903C>T	1980/4551	2	2			c.1903C>T						15	SNP	c.(1903-1905)CGG>TGG	33	33			ovary(2)|lung(1)	3	Broad	kinesin family member 7			90189143		0.577	ENSG00000166813	8169	g.chr15:90189143G>A	microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding							3.941681	KEEP	2	7	-1	43	38	2	7	-1	17.239205	43	38	0.097561	1	0	0	0	0	1	0	0	0	--	--		0	A			KIF7_uc010upw.1_Missense_Mutation_p.R122W	223	GBM-28-5216-TP	p.R635W	G	TGTAAGGTCCGCCTGGGCGGc	NM_198525	NP_940927	90189143	Q2M1P5	KIF7_HUMAN	0	BRCA - Breast invasive adenocarcinoma(143;0.128)		8	1980	-	A	A	Lung NSC(78;0.0237)|all_lung(78;0.0478)		Missense_Mutation	635						
KIF7	374654		GRCh37	15	90188330	90188330	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000394412.3:c.2105G>A	p.Arg702Gln	p.R702Q	ENST00000394412	NM_198525.2	702	cGg/cAg	0																																																																																																																																																																																																																																												
KIF9	64147	broad.mit.edu	GRCh37	3	47284680	47284680	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-6389-01	TCGA-06-6389-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335044.2:c.1570T>C	p.Tyr524His	p.Y524H	ENST00000335044	NM_001134878.1	524	Tac/Cac	0			1			G	Y/H	uc010hjp.2	protein_coding		CCDS2752.1			1570/2373									skin(1)	1	c.(1570-1572)TAC>CAC			hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF191	kinesin family member 9 isoform 2				ENSP00000265529		17/22										17/22	.		ENST00000265529	Transcript			blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	ENSG00000088727	g.chr3:47284680A>G	16666			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=KIF9_HUMAN&rb=351&re=788&var=Y524H	NA	getma.org/?cm=var&var=hg19,3,47284680,A,G&fts=all	Y524H	--	--	1																																		KIF9_uc003cqx.2_Missense_Mutation_p.Y524H|KIF9_uc003cqy.2_Intron|KIF9_uc011bat.1_Intron|uc003cqw.1_RNA				benign(0.012)	p.Y524H	NM_001134878	NP_001128350		tolerated(0.2)		KIF9_HUMAN	KIF9	HGNC	Q9HAQ2	KIF9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)			17	2174	-		Acute lymphoblastic leukemia(5;0.164)	UPI000012DE55	524					SNV	KIF9,missense_variant,p.Tyr524His,ENST00000335044,NM_001134878.1,NM_182902.3;KIF9,missense_variant,p.Tyr524His,ENST00000265529,;KIF9,missense_variant,p.Tyr524His,ENST00000452770,;KIF9,intron_variant,,ENST00000444589,NM_022342.4;KIF9,intron_variant,,ENST00000352910,;KIF9-AS1,non_coding_transcript_exon_variant,,ENST00000429315,;KIF9,non_coding_transcript_exon_variant,,ENST00000487440,;KIF9,downstream_gene_variant,,ENST00000443784,;	uc010hjp.2	c.1570T>C	2251/3311	3	3			c.1570T>C						3	SNP	c.(1570-1572)TAC>CAC	64	64			skin(1)	1	Broad	kinesin family member 9 isoform 2			47284680		0.557	ENSG00000088727	8170	g.chr3:47284680A>G	blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	Colon(44;962 1147 15977 24541)			Colon(44;962 1147 15977 24541)			2.862481	KEEP	1	3	-1	32	17	1	3	-1	11.592751	32	17	0.081633	1	0	0	0	0	1	0	0	0	--	--		0	G			KIF9_uc003cqx.2_Missense_Mutation_p.Y524H|KIF9_uc003cqy.2_Intron|KIF9_uc011bat.1_Intron|uc003cqw.1_RNA	105	GBM-06-6389-TP	p.Y524H	A	GTGGAAACGTAATCCAAGTCC	NM_001134878	NP_001128350	47284680	Q9HAQ2	KIF9_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	17	2174	-	G	G		Acute lymphoblastic leukemia(5;0.164)	Missense_Mutation	524						
KIFAP3	22920	broad.mit.edu	GRCh37	1	169951166	169951166	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-2483-01	TCGA-02-2483-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361580.2:c.1745C>T	p.Ala582Val	p.A582V	ENST00000361580	NM_014970.3	582	gCt/gTt	0			1			A	A/V	uc001ggv.2	protein_coding	YES	CCDS1288.1			1745/2379									skin(1)	1	c.(1744-1746)GCT>GTT			Gene3D:1.25.10.10,Pfam_domain:PF05804,hmmpanther:PTHR15605,SMART_domains:SM00185,Superfamily_domains:SSF48371	kinesin-associated protein 3				ENSP00000354560		15/20									COSM899397,COSM3399975	15/20	.		ENST00000361580	Transcript			blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	ENSG00000075945	g.chr1:169951166G>A	17060			MODERATE		2.755	medium	getma.org/?cm=msa&ty=f&p=KIFA3_HUMAN&rb=13&re=720&var=A582V	NA	getma.org/?cm=var&var=hg19,1,169951166,G,A&fts=all	A582V	--	--	1																																		KIFAP3_uc010plx.1_Missense_Mutation_p.A284V	1,1	1		probably_damaging(0.996)	p.A582V	NM_014970	NP_055785		deleterious(0)	1,1	KIFA3_HUMAN	KIFAP3	HGNC	Q92845	KIFA3_HUMAN			B7Z7E7_HUMAN		15	2016	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		UPI000006CD6C	582			ARM 4.		SNV	KIFAP3,missense_variant,p.Ala542Val,ENST00000367765,NM_001204517.1;KIFAP3,missense_variant,p.Ala504Val,ENST00000538366,NM_001204514.1;KIFAP3,missense_variant,p.Ala582Val,ENST00000361580,NM_014970.3;KIFAP3,missense_variant,p.Ala538Val,ENST00000367767,NM_001204516.1;KIFAP3,missense_variant,p.Ala284Val,ENST00000540905,;	uc001ggv.2	c.1745C>T	1973/2957	2	2			c.1745C>T						1	SNP	c.(1744-1746)GCT>GTT	21	21			skin(1)	1	Broad	kinesin-associated protein 3			169951166		0.343	ENSG00000075945	8171	g.chr1:169951166G>A	blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding							-13.699927	KEEP	2	3	-1	34	56	2	3	-1	6.484539	34	56	0.034884	1	0	0	0	0	1	0	0	0	--	--		0	A			KIFAP3_uc010plx.1_Missense_Mutation_p.A284V	6	GBM-02-2483-TP	p.A582V	G	TAGCAATGCAGCACAAGAGTC	NM_014970	NP_055785	169951166	Q92845	KIFA3_HUMAN	0			15	2016	-	A	A	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		Missense_Mutation	582			ARM 4.			
KIFAP3	0	broad.mit.edu	GRCh37	1	170007466	170007466	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01	TCGA-12-0615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361580.2:c.482G>A	p.Arg161Gln	p.R161Q	ENST00000361580	NM_014970.3	161	cGa/cAa	0			1			T	R/Q	uc001ggv.2	protein_coding	YES	CCDS1288.1			482/2379									skin(1)	1	c.(481-483)CGA>CAA			Pfam_domain:PF05804,hmmpanther:PTHR15605	kinesin-associated protein 3				ENSP00000354560		20-May									COSM2153514,COSM2153515	20-May	.		ENST00000361580	Transcript			blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	ENSG00000075945	g.chr1:170007466C>T	17060			MODERATE		1.95	medium	getma.org/?cm=msa&ty=f&p=KIFA3_HUMAN&rb=13&re=720&var=R161Q	NA	getma.org/?cm=var&var=hg19,1,170007466,C,T&fts=all	R161Q	--	--	1																																		KIFAP3_uc010ply.1_Missense_Mutation_p.R83Q|KIFAP3_uc001ggw.1_Missense_Mutation_p.R117Q	1,1	1		probably_damaging(1)	p.R161Q	NM_014970	NP_055785		deleterious(0.01)	1,1	KIFA3_HUMAN	KIFAP3	HGNC	Q92845	KIFA3_HUMAN			B7Z7E7_HUMAN		5	753	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		UPI000006CD6C	161					SNV	KIFAP3,missense_variant,p.Arg121Gln,ENST00000367765,NM_001204517.1;KIFAP3,missense_variant,p.Arg83Gln,ENST00000538366,NM_001204514.1;KIFAP3,missense_variant,p.Arg161Gln,ENST00000361580,NM_014970.3;KIFAP3,missense_variant,p.Arg117Gln,ENST00000367767,NM_001204516.1;KIFAP3,non_coding_transcript_exon_variant,,ENST00000490550,;	uc001ggv.2	c.482G>A	710/2957	1	1			c.482G>A						1	SNP	c.(481-483)CGA>CAA	8	8			skin(1)	1	Broad	kinesin-associated protein 3			170007466		0.308	ENSG00000075945	8171	g.chr1:170007466C>T	blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding							168.919625	KEEP	31	24	-1	48	48	31	24	-1	170.347661	48	48	0.391304	1	0	0	0	0	1	0	0	0	--	--		0	T			KIFAP3_uc010ply.1_Missense_Mutation_p.R83Q|KIFAP3_uc001ggw.1_Missense_Mutation_p.R117Q	117	GBM-12-0615-TP	p.R161Q	C	ATCAGGATTTCGAGCAAGCTG	NM_014970	NP_055785	170007466	Q92845	KIFA3_HUMAN	0			5	753	-	T	T	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		Missense_Mutation	161						
KIFC3	3801		GRCh37	16	57794781	57794781	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000379655.4:c.2089A>G	p.Ile697Val	p.I697V	ENST00000379655	NM_005550.3	697	Atc/Gtc	0																																																																																																																																																																																																																																												
KIR2DL1	3802	broad.mit.edu	GRCh37	19	55284980	55284980	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0128-01	TCGA-06-0128-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336077.6:c.266G>A	p.Arg89His	p.R89H	ENST00000336077	NM_014218.2	89	cGc/cAc	0		A:0	1	A:0		A	R/H	uc002qhb.1	protein_coding	YES	CCDS12904.1			266/1047										0	c.(265-267)CGC>CAC			Gene3D:2.60.40.10,Pfam_domain:PF00047,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF19,SMART_domains:SM00409,Superfamily_domains:SSF48726	killer cell immunoglobulin-like receptor, two		A:0.001		ENSP00000336769	A:0	8-Mar	8.37E-05			0.000934		3.10E-05			rs543746914,COSM245304	8-Mar	common_variant		ENST00000336077	Transcript		A:0.0002	immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	ENSG00000125498	g.chr19:55284980G>A	6329			MODERATE		0.17	neutral	getma.org/?cm=msa&ty=f&p=KI2S1_HUMAN&rb=42&re=102&var=R89H	getma.org/pdb.php?prot=KI2S1_HUMAN&from=42&to=102&var=R89H	getma.org/?cm=var&var=hg19,19,55284980,G,A&fts=all	R89H	--	--	1																																		KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Missense_Mutation_p.R89H	0,1	1		benign(0.385)	p.R89H	NM_014218	NP_055033	A:0	deleterious(0)	0,1	KI2L1_HUMAN	KIR2DL1	HGNC	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	Q6H2H4_HUMAN,Q6H2H3_HUMAN,K7R1R8_HUMAN		3	304	+			UPI00001195F7	89			Extracellular (Potential).|Ig-like C2-type 1.		SNV	KIR2DL1,missense_variant,p.Arg89His,ENST00000336077,NM_014218.2;KIR2DL1,missense_variant,p.Arg89His,ENST00000291633,;KIR3DL1,intron_variant,,ENST00000538269,;KIR3DL1,intron_variant,,ENST00000541392,;KIR3DL1,intron_variant,,ENST00000402254,;KIR2DL4,intron_variant,,ENST00000396284,;KIR2DL3,intron_variant,,ENST00000434419,;CTB-61M7.1,intron_variant,,ENST00000400864,;	uc002qhb.1	c.266G>A	306/1596	1	1			c.266G>A						19	SNP	c.(265-267)CGC>CAC	55	55				0	Broad	killer cell immunoglobulin-like receptor, two			55284980		0.537	ENSG00000125498	8176	g.chr19:55284980G>A	immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	GBM(72;624 1217 3963 34152 38303)			GBM(72;624 1217 3963 34152 38303)			-104.794952	KEEP	4	1	-1	220	215	4	1	-1	7.765258	220	215	0.012107	1	0	0	0	0	1	0	0	0	--	--		0	A			KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Missense_Mutation_p.R89H	14	GBM-06-0128-TP	p.R89H	G	TCCATCAGTCGCATGACGCAA	NM_014218	NP_055033	55284980	P43626	KI2L1_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0192)	3	304	+	A	A			Missense_Mutation	89			Extracellular (Potential).|Ig-like C2-type 1.			
KIR2DL1	0	broad.mit.edu	GRCh37	19	55284986	55284986	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs117204680	byFrequency	TCGA-14-0787-01	TCGA-14-0787-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336077.6:c.272C>T	p.Thr91Met	p.T91M	ENST00000336077	NM_014218.2	91	aCg/aTg	0			1			T	T/M	uc002qhb.1	protein_coding	YES	CCDS12904.1			272/1047										0	c.(271-273)ACG>ATG			Gene3D:2.60.40.10,Pfam_domain:PF00047,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF19,SMART_domains:SM00409,Superfamily_domains:SSF48726	killer cell immunoglobulin-like receptor, two				ENSP00000336769		8-Mar	0.000167	0.000196		0.00152	0.000156	6.19E-05			rs687485,COSM3404605	8-Mar	common_variant		ENST00000336077	Transcript			immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	ENSG00000125498	g.chr19:55284986C>T	6329			MODERATE		-0.45	neutral	getma.org/?cm=msa&ty=f&p=KI2S1_HUMAN&rb=42&re=102&var=R91M	getma.org/pdb.php?prot=KI2S1_HUMAN&from=42&to=102&var=R91M	getma.org/?cm=var&var=hg19,19,55284986,C,T&fts=all	R91M	--	--	1																																		KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Missense_Mutation_p.T91M	0,1	1		benign(0.024)	p.T91M	NM_014218	NP_055033		tolerated(0.07)	0,1	KI2L1_HUMAN	KIR2DL1	HGNC	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	Q6H2H4_HUMAN,Q6H2H3_HUMAN,K7R1R8_HUMAN		3	310	+			UPI00001195F7	91			Extracellular (Potential).|Ig-like C2-type 1.		SNV	KIR2DL1,missense_variant,p.Thr91Met,ENST00000336077,NM_014218.2;KIR2DL1,missense_variant,p.Thr91Met,ENST00000291633,;KIR3DL1,intron_variant,,ENST00000538269,;KIR3DL1,intron_variant,,ENST00000541392,;KIR3DL1,intron_variant,,ENST00000402254,;KIR2DL4,intron_variant,,ENST00000396284,;KIR2DL3,intron_variant,,ENST00000434419,;CTB-61M7.1,intron_variant,,ENST00000400864,;	uc002qhb.1	c.272C>T	312/1596	2	2			c.272C>T						19	SNP	c.(271-273)ACG>ATG	34	34				0	Broad	killer cell immunoglobulin-like receptor, two			55284986		0.532	ENSG00000125498	8176	g.chr19:55284986C>T	immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	GBM(72;624 1217 3963 34152 38303)			GBM(72;624 1217 3963 34152 38303)			513.316974	KEEP	107	87	-1	24	24	107	87	-1	527.557827	24	24	0.778894	1	0	0	0	0	1	0	0	0	--	--		0	T			KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Missense_Mutation_p.T91M	135	GBM-14-0787-TP	p.T91M	C	AGTCGCATGACGCAAGACCTG	NM_014218	NP_055033	55284986	P43626	KI2L1_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0192)	3	310	+	T	T			Missense_Mutation	91			Extracellular (Potential).|Ig-like C2-type 1.			
KIR2DL1	0	broad.mit.edu	GRCh37	19	55284915	55284915	+	synonymous_variant	Silent	SNP	C	C	T	rs144426670	byFrequency	TCGA-14-0790-01	TCGA-14-0790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336077.6:c.201C>T	p.Asn67=	p.N67=	ENST00000336077	NM_014218.2	67	aaC/aaT	0	T:0.0002		1			T	N	uc002qhb.1	protein_coding	YES	CCDS12904.1			201/1047										0	c.(199-201)AAC>AAT			Gene3D:2.60.40.10,Pfam_domain:PF00047,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF19,SMART_domains:SM00409,Superfamily_domains:SSF48726	killer cell immunoglobulin-like receptor, two			T:0.0001	ENSP00000336769		8-Mar	5.05E-05	0.000201				3.17E-05	0.00233		rs144426670,COSM2885442	8-Mar	.		ENST00000336077	Transcript			immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	ENSG00000125498	g.chr19:55284915C>T	6329			LOW								--	--	1																																		KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Silent_p.N67N	0,1	1			p.N67N	NM_014218	NP_055033			0,1	KI2L1_HUMAN	KIR2DL1	HGNC	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	Q6H2H4_HUMAN,Q6H2H3_HUMAN,K7R1R8_HUMAN		3	239	+			UPI00001195F7	67			Extracellular (Potential).|Ig-like C2-type 1.		SNV	KIR2DL1,synonymous_variant,p.=,ENST00000336077,NM_014218.2;KIR2DL1,synonymous_variant,p.=,ENST00000291633,;KIR3DL1,intron_variant,,ENST00000538269,;KIR3DL1,intron_variant,,ENST00000541392,;KIR3DL1,intron_variant,,ENST00000402254,;KIR2DL4,intron_variant,,ENST00000396284,;KIR2DL3,intron_variant,,ENST00000434419,;CTB-61M7.1,intron_variant,,ENST00000400864,;	uc002qhb.1	c.201C>T	241/1596	2	2			c.201C>T						19	SNP	c.(199-201)AAC>AAT	43	43				0	Broad	killer cell immunoglobulin-like receptor, two			55284915		0.517	ENSG00000125498	8176	g.chr19:55284915C>T	immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	GBM(72;624 1217 3963 34152 38303)			GBM(72;624 1217 3963 34152 38303)			351.135031	KEEP	87	72	-1	157	187	87	72	-1	358.16915	157	187	0.349432	1	0	0	0	0	0	0	1	0	--	--		0	T			KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Silent_p.N67N	137	GBM-14-0790-TP	p.N67N	C	GGATGTTTAACGACACTTTGC	NM_014218	NP_055033	55284915	P43626	KI2L1_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0192)	3	239	+	T	T			Silent	67			Extracellular (Potential).|Ig-like C2-type 1.			
KIR2DL3	3804	broad.mit.edu	GRCh37	19	55255258	55255260	+	inframe_deletion	In_Frame_Del	DEL	CTT	CTT	-			TCGA-02-2485-01	TCGA-02-2485-01	CTT	CTT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342376.3:c.388_390del	p.Ser130del	p.S130del	ENST00000342376	NM_015868.2	129	cCTTct/cct	0			1			-	PS/P	uc002qgv.2	protein_coding	YES	CCDS33107.1			386-388/1026									ovary(2)	2	c.(385-390)CCTTCT>CCT			Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF19,Superfamily_domains:SSF48726	killer cell immunoglobulin-like receptor, two				ENSP00000342215		8-Apr										8-Apr	.		ENST00000342376	Transcript			immune response|regulation of immune response	integral to plasma membrane	antigen binding|protein binding|receptor activity	ENSG00000243772	g.chr19:55255258_55255260delCTT	6331	2		MODERATE								--	--	1																																		KIR2DL3_uc002qgx.2_In_Frame_Del_p.S130del|KIR2DL3_uc002qgy.2_Intron|KIR2DL3_uc010erw.1_In_Frame_Del_p.S130del|KIR2DL1_uc002qgz.1_In_Frame_Del_p.S40del|KIR2DL3_uc002qha.1_Intron		1			p.S130del	NM_015868	NP_056952				KI2L3_HUMAN	KIR2DL3	HGNC	P43628	KI2L3_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	M4NBK9_HUMAN,M4N692_HUMAN,E3NZD8_HUMAN,Q9UPI8_HUMAN,C6EVR7_HUMAN		4	404_406	+			UPI000012DB1C	130			Extracellular (Potential).		deletion	KIR2DL3,inframe_deletion,p.Ser130del,ENST00000342376,NM_015868.2;KIR2DL3,inframe_deletion,p.Ser130del,ENST00000434419,;KIR3DL1,intron_variant,,ENST00000538269,;KIR3DL1,intron_variant,,ENST00000541392,;KIR3DL1,intron_variant,,ENST00000402254,;KIR2DL4,intron_variant,,ENST00000396284,;CTB-61M7.1,intron_variant,,ENST00000400864,;	uc002qgv.2	c.386_388delCTT	417-419/1590	5	5			c.386_388delCTT						19	DEL	c.(385-390)CCTTCT>CCT	1	1			ovary(2)	2	Broad	killer cell immunoglobulin-like receptor, two			55255260		0.562	ENSG00000243772	8177	g.chr19:55255258_55255260delCTT	immune response|regulation of immune response	integral to plasma membrane	antigen binding|protein binding|receptor activity																				0.17	1	1	0	1	0	0	0	0	0	--	--		0	-			KIR2DL3_uc002qgx.2_In_Frame_Del_p.S130del|KIR2DL3_uc002qgy.2_Intron|KIR2DL3_uc010erw.1_In_Frame_Del_p.S130del|KIR2DL1_uc002qgz.1_In_Frame_Del_p.S40del|KIR2DL3_uc002qha.1_Intron	7	GBM-02-2485-TP	p.S130del	CTT	TATGAGAAACCTTCTCTCTCAGC	NM_015868	NP_056952	55255258	P43628	KI2L3_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0192)	4	404_406	+	-	-			In_Frame_Del	130			Extracellular (Potential).			
KIR2DL4	3805	broad.mit.edu	GRCh37	19	55316286	55316286	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01	TCGA-06-2559-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345540.5:c.115G>A	p.Ala39Thr	p.A39T	ENST00000345540	NM_001080770.1	39	Gct/Act	0		A:0	1	A:0		A	A/T	uc010yfm.1	protein_coding	YES	CCDS42619.1			115/1029									ovary(1)	1	c.(115-117)GCT>ACT			Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF93,SMART_domains:SM00409,Superfamily_domains:SSF48726	killer cell immunoglobulin-like receptor, two		A:0.003		ENSP00000339634	A:0	7-Mar	1.87E-05			0.000266					rs369994438,COSM2152656,COSM2152655,COSM2152657	7-Mar	.		ENST00000345540	Transcript		A:0.0006	cellular defense response|regulation of immune response	integral to plasma membrane	protein binding|transmembrane receptor activity	ENSG00000189013	g.chr19:55316286G>A	6332			MODERATE		0.525	neutral	getma.org/?cm=msa&ty=f&p=KI2L4_HUMAN&rb=30&re=119&var=A39T	getma.org/pdb.php?prot=KI2L4_HUMAN&from=30&to=119&var=A39T	getma.org/?cm=var&var=hg19,19,55316286,G,A&fts=all	A39T	--	--	1																																		KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL4_uc010yfl.1_Missense_Mutation_p.A34T|KIR2DL4_uc002qhg.2_Missense_Mutation_p.A39T|KIR2DL4_uc002qhi.2_Missense_Mutation_p.A39T|KIR2DL4_uc002qhh.2_Intron|KIR2DL4_uc002qhj.2_Missense_Mutation_p.A39T|KIR2DL4_uc002qhf.2_Intron|KIR2DL4_uc010esd.2_Missense_Mutation_p.A39T|KIR2DL4_uc010ese.2_5'Flank	0,1,1,1	1		benign(0.015)	p.A39T	NM_002255	NP_002246	A:0	tolerated(0.06)	0,1,1,1	KI2L4_HUMAN	KIR2DL4	HGNC	Q99706	KI2L4_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	Q96L48_HUMAN,C3VNC8_HUMAN,C3VNC1_HUMAN		3	155	+			UPI000013E082	39			Extracellular (Potential).		SNV	KIR2DL4,missense_variant,p.Ala38Thr,ENST00000396289,;KIR2DL4,missense_variant,p.Ala37Thr,ENST00000396284,;KIR2DL4,missense_variant,p.Ala39Thr,ENST00000359085,NM_002255.5,NM_001080772.1;KIR2DL4,missense_variant,p.Ala39Thr,ENST00000345540,NM_001080770.1;KIR2DL4,missense_variant,p.Ala39Thr,ENST00000357494,;KIR3DL1,intron_variant,,ENST00000538269,;KIR3DL1,intron_variant,,ENST00000541392,;KIR3DL1,intron_variant,,ENST00000402254,;KIR2DL4,intron_variant,,ENST00000346587,;KIR2DL4,intron_variant,,ENST00000396293,;KIR2DL4,non_coding_transcript_exon_variant,,ENST00000463062,;KIR2DL4,non_coding_transcript_exon_variant,,ENST00000486965,;	uc010yfm.1	c.115G>A	127/1447	2	2			c.115G>A						19	SNP	c.(115-117)GCT>ACT	39	39			ovary(1)	1	Broad	killer cell immunoglobulin-like receptor, two			55316286		0.582	ENSG00000189013	8178	g.chr19:55316286G>A	cellular defense response|regulation of immune response	integral to plasma membrane	protein binding|transmembrane receptor activity							60.332359	KEEP	16	21	-1	68	54	16	21	-1	67.088971	68	54	0.235849	1	0	0	0	0	1	0	0	0	--	--		0	A			KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL4_uc010yfl.1_Missense_Mutation_p.A34T|KIR2DL4_uc002qhg.2_Missense_Mutation_p.A39T|KIR2DL4_uc002qhi.2_Missense_Mutation_p.A39T|KIR2DL4_uc002qhh.2_Intron|KIR2DL4_uc002qhj.2_Missense_Mutation_p.A39T|KIR2DL4_uc002qhf.2_Intron|KIR2DL4_uc010esd.2_Missense_Mutation_p.A39T|KIR2DL4_uc010ese.2_5'Flank	83	GBM-06-2559-TP	p.A39T	G	CTGGCCCAGCGCTGTGGTGCC	NM_002255	NP_002246	55316286	Q99706	KI2L4_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0192)	3	155	+	A	A			Missense_Mutation	39			Extracellular (Potential).			
KIR3DL1	0	broad.mit.edu	GRCh37	19	55327961	55327961	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6695-01	TCGA-06-6695-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000391728.4:c.6G>A	p.Ser2=	p.S2=	ENST00000391728	NM_013289.2	2	tcG/tcA	0			1			A	S	uc002qhk.3	protein_coding	YES	CCDS42621.1			6/1335									ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5	c.(4-6)TCG>TCA			hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF19,Cleavage_site_(Signalp):SignalP-noTM	killer cell immunoglobulin-like receptor, three				ENSP00000375608		9-Jan	2.47E-05							0.00025	rs764815860,COSM3404606	9-Jan	.		ENST00000391728	Transcript			immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity	ENSG00000167633	g.chr19:55327961G>A	6338			LOW								--	--	1																																OREG0003676	type=REGULATORY REGION|Gene=KIR3DL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_5'UTR|KIR3DL1_uc010esf.2_Silent_p.S2S|KIR3DL1_uc010yfo.1_5'UTR|KIR3DL1_uc002qhl.3_Silent_p.S2S	0,1	1			p.S2S	NM_013289	NP_037421			0,1	KI3L1_HUMAN	KIR3DL1	HGNC	P43629	KI3L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	Q5UCE2_HUMAN,Q8NHL0_HUMAN		1	69	+			UPI000012DB24	2					SNV	KIR3DL1,synonymous_variant,p.=,ENST00000391728,NM_013289.2;KIR3DL1,synonymous_variant,p.=,ENST00000326542,;KIR3DL1,synonymous_variant,p.=,ENST00000358178,;KIR3DL1,intron_variant,,ENST00000538269,;KIR3DL1,intron_variant,,ENST00000541392,;KIR3DL1,intron_variant,,ENST00000402254,;KIR2DL4,downstream_gene_variant,,ENST00000396289,;KIR2DL4,downstream_gene_variant,,ENST00000396284,;KIR2DL4,downstream_gene_variant,,ENST00000359085,NM_002255.5,NM_001080772.1;KIR2DL4,downstream_gene_variant,,ENST00000345540,NM_001080770.1;KIR2DL4,downstream_gene_variant,,ENST00000357494,;KIR2DL4,downstream_gene_variant,,ENST00000346587,;KIR2DL4,downstream_gene_variant,,ENST00000396293,;KIR2DL4,downstream_gene_variant,,ENST00000463062,;KIR2DL4,downstream_gene_variant,,ENST00000486965,;	uc002qhk.3	c.6G>A	39/1871	2	2			c.6G>A						19	SNP	c.(4-6)TCG>TCA	35	35			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5	Broad	killer cell immunoglobulin-like receptor, three			55327961		0.597	ENSG00000167633	8180	g.chr19:55327961G>A	immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity							70.272761	KEEP	25	39	-1	35	29	25	39	-1	70.309355	35	29	0.471698	1	0	0	0	0	0	0	1	0	--	--		0	A	OREG0003676	type=REGULATORY REGION|Gene=KIR3DL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_5'UTR|KIR3DL1_uc010esf.2_Silent_p.S2S|KIR3DL1_uc010yfo.1_5'UTR|KIR3DL1_uc002qhl.3_Silent_p.S2S	110	GBM-06-6695-TP	p.S2S	G	GCACCATGTCGCTCATGGTCG	NM_013289	NP_037421	55327961	P43629	KI3L1_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0192)	1	69	+	A	A			Silent	2						
KIR3DL1	0	broad.mit.edu	GRCh37	19	55341632	55341632	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-4068-01	TCGA-19-4068-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000391728.4:c.1237C>T	p.Arg413Cys	p.R413C	ENST00000391728	NM_013289.2	413	Cgc/Tgc	0		T:0.0008	1	T:0		T	R/C	uc002qhk.3	protein_coding	YES	CCDS42621.1			1237/1335									ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5	c.(1237-1239)CGC>TGC			hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF19	killer cell immunoglobulin-like receptor, three		T:0		ENSP00000375608	T:0	9-Sep	3.41E-05	0.000196	9.16E-05						rs573252093,COSM2156488	9-Sep	.		ENST00000391728	Transcript		T:0.0002	immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity	ENSG00000167633	g.chr19:55341632C>T	6338			MODERATE		1.505	low	getma.org/?cm=msa&ty=f&p=KI3L1_HUMAN&rb=296&re=444&var=R413C	NA	getma.org/?cm=var&var=hg19,19,55341632,C,T&fts=all	R413C	--	--	1																																		KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.R338C|KIR3DL1_uc010esf.2_Missense_Mutation_p.R318C|KIR3DL1_uc010yfo.1_Missense_Mutation_p.R355C|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_5'Flank|KIR2DS4_uc002qhm.1_5'Flank	0,1	1		benign(0.004)	p.R413C	NM_013289	NP_037421	T:0	tolerated(0.1)	0,1	KI3L1_HUMAN	KIR3DL1	HGNC	P43629	KI3L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	Q5UCE2_HUMAN,Q8NHL0_HUMAN		9	1300	+			UPI000012DB24	413			Cytoplasmic (Potential).		SNV	KIR3DL1,missense_variant,p.Arg413Cys,ENST00000391728,NM_013289.2;KIR3DL1,missense_variant,p.Arg413Cys,ENST00000538269,;KIR3DL1,missense_variant,p.Arg396Cys,ENST00000541392,;KIR3DL1,missense_variant,p.Arg396Cys,ENST00000326542,;KIR3DL1,missense_variant,p.Arg318Cys,ENST00000358178,;KIR3DL1,intron_variant,,ENST00000402254,;KIR2DS4,upstream_gene_variant,,ENST00000339924,NM_001281971.1,NM_012314.4;KIR2DS4,upstream_gene_variant,,ENST00000391729,;	uc002qhk.3	c.1237C>T	1270/1871	2	2			c.1237C>T						19	SNP	c.(1237-1239)CGC>TGC	21	21			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5	Broad	killer cell immunoglobulin-like receptor, three			55341632		0.507	ENSG00000167633	8180	g.chr19:55341632C>T	immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity							496.078689	KEEP	80	106	-1	140	137	80	106	-1	500.303353	140	137	0.393939	1	0	0	0	0	1	0	0	0	--	--		0	T			KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.R338C|KIR3DL1_uc010esf.2_Missense_Mutation_p.R318C|KIR3DL1_uc010yfo.1_Missense_Mutation_p.R355C|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_5'Flank|KIR2DS4_uc002qhm.1_5'Flank	168	GBM-19-4068-TP	p.R413C	C	AAAAATCACTCGCCCTTCTCA	NM_013289	NP_037421	55341632	P43629	KI3L1_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0192)	9	1300	+	T	T			Missense_Mutation	413			Cytoplasmic (Potential).			
KIR3DL1	0	broad.mit.edu	GRCh37	19	55331314	55331314	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01	TCGA-19-5954-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000391728.4:c.502G>A	p.Val168Ile	p.V168I	ENST00000391728	NM_013289.2	168	Gtt/Att	0	A:0.0005	A:0	1	A:0		A	V/I	uc002qhk.3	protein_coding	YES	CCDS42621.1			502/1335									ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5	c.(502-504)GTT>ATT			Gene3D:2.60.40.10,Pfam_domain:PF13927,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF19,SMART_domains:SM00409,Superfamily_domains:SSF48726	killer cell immunoglobulin-like receptor, three		A:0.002	A:0.0001	ENSP00000375608	A:0	9-Apr	0.000819	0.000293		0.000361	0.000492	0.00101		0.00159	rs200785070,COSM2156778,COSM2156779	9-Apr	common_variant		ENST00000391728	Transcript		A:0.0004	immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity	ENSG00000167633	g.chr19:55331314G>A	6338			MODERATE		-0.54	neutral	getma.org/?cm=msa&ty=f&p=KI3L1_HUMAN&rb=123&re=199&var=V168I	getma.org/pdb.php?prot=KI3L1_HUMAN&from=123&to=199&var=V168I	getma.org/?cm=var&var=hg19,19,55331314,G,A&fts=all	V168I	--	--	1																																		KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.V110I|KIR3DL1_uc010esf.2_Missense_Mutation_p.V73I|KIR3DL1_uc010yfo.1_Missense_Mutation_p.V110I|KIR3DL1_uc002qhl.3_Missense_Mutation_p.V168I	0,1,1	1		benign(0.001)	p.V168I	NM_013289	NP_037421	A:0	tolerated(0.23)	0,1,1	KI3L1_HUMAN	KIR3DL1	HGNC	P43629	KI3L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	Q5UCE2_HUMAN,Q8NHL0_HUMAN		4	565	+			UPI000012DB24	168			Extracellular (Potential).|Ig-like C2-type 2.		SNV	KIR3DL1,missense_variant,p.Val168Ile,ENST00000391728,NM_013289.2;KIR3DL1,missense_variant,p.Val168Ile,ENST00000538269,;KIR3DL1,missense_variant,p.Val168Ile,ENST00000541392,;KIR3DL1,missense_variant,p.Val168Ile,ENST00000326542,;KIR3DL1,missense_variant,p.Val168Ile,ENST00000402254,;KIR3DL1,missense_variant,p.Val73Ile,ENST00000358178,;	uc002qhk.3	c.502G>A	535/1871	2	2			c.502G>A						19	SNP	c.(502-504)GTT>ATT	18	18			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5	Broad	killer cell immunoglobulin-like receptor, three			55331314		0.502	ENSG00000167633	8180	g.chr19:55331314G>A	immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity							260.978516	KEEP	38	50	-1	9	14	38	50	-1	269.149109	9	14	0.79798	1	0	0	0	0	1	0	0	0	--	--		0	A			KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.V110I|KIR3DL1_uc010esf.2_Missense_Mutation_p.V73I|KIR3DL1_uc010yfo.1_Missense_Mutation_p.V110I|KIR3DL1_uc002qhl.3_Missense_Mutation_p.V168I	174	GBM-19-5954-TP	p.V168I	G	CTCACGCCTCGTTGGACAGAT	NM_013289	NP_037421	55331314	P43629	KI3L1_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0192)	4	565	+	A	A			Missense_Mutation	168			Extracellular (Potential).|Ig-like C2-type 2.			
KIR3DL2	0	broad.mit.edu	GRCh37	19	55378070	55378070	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01	TCGA-14-3476-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326321.3:c.1252C>A	p.Pro418Thr	p.P418T	ENST00000326321	NM_006737.3	418	Ccc/Acc	0			1			A	P/T	uc002qhl.3	protein_coding	YES	CCDS12906.1			1252/1368									ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5	c.(1252-1254)CCC>ACC			hmmpanther:PTHR11738:SF19,hmmpanther:PTHR11738	SubName: Full=KIR3DS1;				ENSP00000325525		9-Sep									COSM3404611,COSM3404610	9-Sep	.		ENST00000326321	Transcript			immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity	ENSG00000240403	g.chr19:55378070C>A	6339			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=KI3L2_HUMAN&rb=297&re=455&var=P418T	NA	getma.org/?cm=var&var=hg19,19,55378070,C,A&fts=all	P418T	--	--	1																																		KIR3DL2_uc010esh.2_Missense_Mutation_p.P401T|KIR3DL2_uc002qho.3_Missense_Mutation_p.P418T	1,1	1		benign(0.086)	p.P418T				deleterious(0.02)	1,1	KI3L2_HUMAN	KIR3DL2	HGNC	P43629	KI3L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	O78200_HUMAN,E4W3V6_HUMAN,A7YL13_HUMAN		9	1315	+			UPI000012DB25	418			Cytoplasmic (Potential).		SNV	KIR3DL2,missense_variant,p.Pro418Thr,ENST00000326321,NM_006737.3;KIR3DL1,missense_variant,p.Pro418Thr,ENST00000402254,;KIR3DL2,missense_variant,p.Pro401Thr,ENST00000270442,NM_001242867.1;RNU6-222P,downstream_gene_variant,,ENST00000362438,;	uc002qhl.3	c.1252C>A	1285/1877	1	1			c.1252C>A						19	SNP	c.(1252-1254)CCC>ACC	54	54			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5	Broad	SubName: Full=KIR3DS1;			55378070		0.522	ENSG00000240403	8180	g.chr19:55378070C>A	immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity							317.750299	KEEP	50	74	0.596774194	140	147	50	74	0.596774194	330.190011	140	147	0.310078	1	0	0	0	0	1	0	0	0	--	--		0	A			KIR3DL2_uc010esh.2_Missense_Mutation_p.P401T|KIR3DL2_uc002qho.3_Missense_Mutation_p.P418T	151	GBM-14-3476-TP	p.P418T	C	TTCTCAGAGGCCCAAGACACC			55378070	P43629	KI3L1_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0192)	9	1315	+	A	A			Missense_Mutation	418			Cytoplasmic (Potential).			
KIR3DL2	3812		GRCh37	19	55377847	55377847	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000326321.3:c.1128G>A	p.Glu376=	p.E376=	ENST00000326321	NM_006737.3	376	gaG/gaA	0																																																																																																																																																																																																																																												
KIRREL	0	broad.mit.edu	GRCh37	1	158063228	158063228	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01	TCGA-06-0168-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359209.6:c.1571G>A	p.Arg524His	p.R524H	ENST00000359209		524	cGc/cAc	0			1			A	R/H	uc001frn.3	protein_coding	YES	CCDS1172.2			1571/2274									ovary(1)	1	c.(1570-1572)CGC>CAC			hmmpanther:PTHR11640,hmmpanther:PTHR11640:SF14	kin of IRRE like precursor				ENSP00000352138		15-Dec	4.12E-05	9.61E-05		0.000116		4.50E-05			rs754743295,COSM3399835,COSM3399834,COSM3399836	15-Dec	.		ENST00000359209	Transcript				integral to membrane		ENSG00000183853	g.chr1:158063228G>A	15734			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=KIRR1_HUMAN&rb=477&re=676&var=R524H	NA	getma.org/?cm=var&var=hg19,1,158063228,G,A&fts=all	R524H	--	--	1																																		KIRREL_uc010pib.1_Missense_Mutation_p.R424H|KIRREL_uc009wsq.2_Missense_Mutation_p.R360H|KIRREL_uc001fro.3_Missense_Mutation_p.R338H	0,1,1,1	1		possibly_damaging(0.479)	p.R524H	NM_018240	NP_060710		deleterious(0.05)	0,1,1,1	KIRR1_HUMAN	KIRREL	HGNC	Q96J84	KIRR1_HUMAN					12	1975	+	all_hematologic(112;0.0378)		UPI0000443FBD	524			Cytoplasmic (Potential).		SNV	KIRREL,missense_variant,p.Arg338His,ENST00000368172,NM_001286349.1;KIRREL,missense_variant,p.Arg540His,ENST00000368173,NM_018240.5;KIRREL,missense_variant,p.Arg360His,ENST00000360089,;KIRREL,missense_variant,p.Arg421His,ENST00000392272,;KIRREL,missense_variant,p.Arg524His,ENST00000359209,;KIRREL,missense_variant,p.Arg424His,ENST00000416935,;	uc001frn.3	c.1571G>A	1638/2874	2	2			c.1571G>A						1	SNP	c.(1570-1572)CGC>CAC	18	18			ovary(1)	1	Broad	kin of IRRE like precursor			158063228		0.607	ENSG00000183853	8183	g.chr1:158063228G>A		integral to membrane								-34.582434	KEEP	3	2	-1	73	104	3	2	-1	7.673924	73	104	0.028902	1	0	0	0	0	1	0	0	0	--	--		0	A			KIRREL_uc010pib.1_Missense_Mutation_p.R424H|KIRREL_uc009wsq.2_Missense_Mutation_p.R360H|KIRREL_uc001fro.3_Missense_Mutation_p.R338H	33	GBM-06-0168-TP	p.R524H	G	TACCGGCGCCGCAAAGGCAGT	NM_018240	NP_060710	158063228	Q96J84	KIRR1_HUMAN	0			12	1975	+	A	A	all_hematologic(112;0.0378)		Missense_Mutation	524			Cytoplasmic (Potential).			
KIRREL2	0	broad.mit.edu	GRCh37	19	36351843	36351843	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2523-01	TCGA-27-2523-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360202.5:c.961G>A	p.Val321Met	p.V321M	ENST00000360202	NM_032123.5	321	Gtg/Atg	0			1			A	V/M	uc002ocb.3	protein_coding	YES	CCDS12481.1			961/2127									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(961-963)GTG>ATG			Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR11640,hmmpanther:PTHR11640:SF51,SMART_domains:SM00409,Superfamily_domains:SSF48726	kin of IRRE-like 2 isoform c				ENSP00000353331		15-Aug									COSM3404147,COSM3404148	15-Aug	.		ENST00000360202	Transcript			cell adhesion	integral to membrane|plasma membrane		ENSG00000126259	g.chr19:36351843G>A	18816			MODERATE		1.38	low	getma.org/?cm=msa&ty=f&p=KIRR2_HUMAN&rb=311&re=396&var=V321M	getma.org/pdb.php?prot=KIRR2_HUMAN&from=311&to=396&var=V321M	getma.org/?cm=var&var=hg19,19,36351843,G,A&fts=all	V321M	--	--	1																																		KIRREL2_uc002obz.3_Missense_Mutation_p.V321M|KIRREL2_uc002oca.3_Missense_Mutation_p.V271M|KIRREL2_uc002occ.3_Missense_Mutation_p.V268M|KIRREL2_uc002ocd.3_Missense_Mutation_p.V318M	1,1	1		benign(0.245)	p.V321M	NM_199180	NP_954649		tolerated(0.41)	1,1	KIRR2_HUMAN	KIRREL2	HGNC	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)				8	1173	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		UPI0000366DD8	321			Extracellular (Potential).|Ig-like C2-type 4.		SNV	KIRREL2,missense_variant,p.Val321Met,ENST00000360202,NM_032123.5,NM_199180.2;KIRREL2,missense_variant,p.Val321Met,ENST00000592409,;KIRREL2,missense_variant,p.Val271Met,ENST00000347900,NM_199179.2;KIRREL2,missense_variant,p.Val321Met,ENST00000262625,;KIRREL2,downstream_gene_variant,,ENST00000586102,;NPHS1,intron_variant,,ENST00000591817,;	uc002ocb.3	c.961G>A	1159/2942	1	1			c.961G>A						19	SNP	c.(961-963)GTG>ATG	60	60			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	kin of IRRE-like 2 isoform c			36351843		0.672	ENSG00000126259	8184	g.chr19:36351843G>A	cell adhesion	integral to membrane|plasma membrane								37.394794	KEEP	10	8	-1	27	32	10	8	-1	41.190765	27	32	0.246154	1	0	0	0	0	1	0	0	0	--	--		0	A			KIRREL2_uc002obz.3_Missense_Mutation_p.V321M|KIRREL2_uc002oca.3_Missense_Mutation_p.V271M|KIRREL2_uc002occ.3_Missense_Mutation_p.V268M|KIRREL2_uc002ocd.3_Missense_Mutation_p.V318M	201	GBM-27-2523-TP	p.V321M	G	GCCGGAGCCCGTGTCCGTGGA	NM_199180	NP_954649	36351843	Q6UWL6	KIRR2_HUMAN	0	LUSC - Lung squamous cell carcinoma(66;0.0515)		8	1173	+	A	A	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		Missense_Mutation	321			Extracellular (Potential).|Ig-like C2-type 4.			
KIRREL3	84623	broad.mit.edu	GRCh37	11	126299112	126299112	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6390-01	TCGA-06-6390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000525144.2:c.1768C>T	p.Arg590Trp	p.R590W	ENST00000525144	NM_032531.3	590	Cgg/Tgg	0			1			A	R/W	uc001qea.2	protein_coding	YES	CCDS53723.1			1768/2337									ovary(3)	3	c.(1768-1770)CGG>TGG			hmmpanther:PTHR11640,hmmpanther:PTHR11640:SF49	kin of IRRE like 3 isoform 1				ENSP00000435466		15/17										15/17	.		ENST00000525144	Transcript	1		hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	ENSG00000149571	g.chr11:126299112G>A	23204			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=KIRR3_HUMAN&rb=516&re=715&var=R590W	NA	getma.org/?cm=var&var=hg19,11,126299112,G,A&fts=all	R590W	--	--	1																																		KIRREL3_uc001qeb.2_Missense_Mutation_p.R578W|ST3GAL4_uc001qdx.1_Intron		1		probably_damaging(0.997)	p.R590W	NM_032531	NP_115920		deleterious(0)		KIRR3_HUMAN	KIRREL3	HGNC	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	B4DT91_HUMAN		15	2129	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	UPI00000740A0	590			Cytoplasmic (Potential).		SNV	KIRREL3,missense_variant,p.Arg590Trp,ENST00000525144,NM_032531.3;KIRREL3,missense_variant,p.Arg578Trp,ENST00000529097,;KIRREL3,missense_variant,p.Arg57Trp,ENST00000416561,;KIRREL3,downstream_gene_variant,,ENST00000525704,NM_001161707.1;KIRREL3,non_coding_transcript_exon_variant,,ENST00000526519,;KIRREL3,non_coding_transcript_exon_variant,,ENST00000532647,;ST3GAL4,intron_variant,,ENST00000524834,;	uc001qea.2	c.1768C>T	2018/3808	2	2			c.1768C>T						11	SNP	c.(1768-1770)CGG>TGG	35	35			ovary(3)	3	Broad	kin of IRRE like 3 isoform 1			126299112		0.488	ENSG00000149571	8185	g.chr11:126299112G>A	hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding							4.368365	KEEP	1	4	-1	27	25	1	4	-1	11.075503	27	25	0.111111	1	0	0	0	0	1	0	0	0	--	--		0	A			KIRREL3_uc001qeb.2_Missense_Mutation_p.R578W|ST3GAL4_uc001qdx.1_Intron	106	GBM-06-6390-TP	p.R590W	G	TCACCCTCCCGACCAGAGGCT	NM_032531	NP_115920	126299112	Q8IZU9	KIRR3_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	15	2129	-	A	A	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	Missense_Mutation	590			Cytoplasmic (Potential).			
KIRREL3	0	broad.mit.edu	GRCh37	11	126343282	126343282	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6695-01	TCGA-06-6695-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000525144.2:c.513C>T	p.His171=	p.H171=	ENST00000525144	NM_032531.3	171	caC/caT	0	A:0.0002		1			A	H	uc001qea.2	protein_coding	YES	CCDS53723.1			513/2337									ovary(3)	3	c.(511-513)CAC>CAT			Gene3D:2.60.40.10,Pfam_domain:PF08205,PROSITE_profiles:PS50835,hmmpanther:PTHR11640,hmmpanther:PTHR11640:SF49,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	kin of IRRE like 3 isoform 1			A:0	ENSP00000435466		17-May									rs376743687,COSM3397532,COSM3397530,COSM3397531	17-May	.		ENST00000525144	Transcript	1		hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	ENSG00000149571	g.chr11:126343282G>A	23204			LOW								--	--	1																																		KIRREL3_uc001qeb.2_Silent_p.H171H|KIRREL3_uc001qec.1_Silent_p.H171H	0,1,1,1	1			p.H171H	NM_032531	NP_115920			0,1,1,1	KIRR3_HUMAN	KIRREL3	HGNC	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	B4DT91_HUMAN		5	874	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	UPI00000740A0	171			Ig-like C2-type 2.|Extracellular (Potential).		SNV	KIRREL3,synonymous_variant,p.=,ENST00000525144,NM_032531.3;KIRREL3,synonymous_variant,p.=,ENST00000529097,;KIRREL3,synonymous_variant,p.=,ENST00000525704,NM_001161707.1;	uc001qea.2	c.513C>T	763/3808	1	1			c.513C>T						11	SNP	c.(511-513)CAC>CAT	59	59			ovary(3)	3	Broad	kin of IRRE like 3 isoform 1			126343282		0.587	ENSG00000149571	8185	g.chr11:126343282G>A	hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding							30.154627	KEEP	3	7	-1	2	2	3	7	-1	30.732196	2	2	0.714286	1	0	0	0	0	0	0	1	0	--	--		0	A			KIRREL3_uc001qeb.2_Silent_p.H171H|KIRREL3_uc001qec.1_Silent_p.H171H	110	GBM-06-6695-TP	p.H171H	G	CATTGTCTGCGTGGCAGGTGA	NM_032531	NP_115920	126343282	Q8IZU9	KIRR3_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	5	874	-	A	A	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	Silent	171			Ig-like C2-type 2.|Extracellular (Potential).			
KIT	3815	broad.mit.edu	GRCh37	4	55561758	55561758	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288135.5:c.148G>A	p.Val50Met	p.V50M	ENST00000288135	NM_000222.2	50	Gtg/Atg	0			1			A	V/M	uc010igr.2	protein_coding	YES	CCDS3496.1		1	148/2931	Mis|O	Piebald trait		GIST|epithelioma	GIST|AML|TGCT|mastocytosis|mucosal melanoma			p.V50M(1)	soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	c.(148-150)GTG>ATG			Gene3D:2.60.40.10,Pfam_domain:PF13895,PIRSF_domain:PIRSF000615,SMART_domains:SM00409,PIRSF_domain:PIRSF500951	v-kit Hardy-Zuckerman 4 feline sarcoma viral	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)			ENSP00000288135		21-Feb	1.65E-05	9.61E-05						6.06E-05	rs200950545,COSM42898	21-Feb	.	Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors	ENST00000288135	Transcript	1		male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	ENSG00000157404	g.chr4:55561758G>A	6342			MODERATE		0.49	neutral	getma.org/?cm=msa&ty=f&p=KIT_HUMAN&rb=35&re=111&var=V50M	getma.org/pdb.php?prot=KIT_HUMAN&from=35&to=111&var=V50M	getma.org/?cm=var&var=hg19,4,55561758,G,A&fts=all	V50M	--	--	1																																		KIT_uc010igs.2_Missense_Mutation_p.V50M	0,1	1		possibly_damaging(0.592)	p.V50M	NM_000222	NP_000213		tolerated(0.26)	0,1	KIT_HUMAN	KIT	HGNC	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Q8TCG9_HUMAN		2	235	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		UPI000003F17D	50			Extracellular (Potential).|Ig-like C2-type 1.		SNV	KIT,missense_variant,p.Val50Met,ENST00000288135,NM_000222.2,NM_001093772.1;KIT,missense_variant,p.Val50Met,ENST00000412167,;KIT,non_coding_transcript_exon_variant,,ENST00000514582,;	uc010igr.2	c.148G>A	245/5186	2	2		1	c.148G>A	Mis|O	Piebald trait		GIST|epithelioma	GIST|AML|TGCT|mastocytosis|mucosal melanoma	4	SNP	c.(148-150)GTG>ATG	35	35		p.V50M(1)	soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	Broad	v-kit Hardy-Zuckerman 4 feline sarcoma viral		Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	55561758	Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors	0.468	ENSG00000157404	8188	g.chr4:55561758G>A	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			431			431	105.422229	KEEP	19	23	-1	36	39	19	23	-1	107.39956	36	39	0.35514	1	0	0	0	0	1	0	0	0	--	--		0	A			KIT_uc010igs.2_Missense_Mutation_p.V50M	58	GBM-06-0644-TP	p.V50M	G	AATAGTCCGCGTGGGCGACGA	NM_000222	NP_000213	55561758	P10721	KIT_HUMAN	0	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	2	235	+	A	A	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		Missense_Mutation	50			Extracellular (Potential).|Ig-like C2-type 1.			
KIT	3815	broad.mit.edu	GRCh37	4	55597497	55597497	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5411-01	TCGA-06-5411-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288135.5:c.2145C>T	p.Ser715=	p.S715=	ENST00000288135	NM_000222.2	715	agC/agT	0		T:0	1	T:0		T	S	uc010igr.2	protein_coding	YES	CCDS3496.1		1	2145/2931	Mis|O	Piebald trait		GIST|epithelioma	GIST|AML|TGCT|mastocytosis|mucosal melanoma			p.S715del(7)	soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	c.(2143-2145)AGC>AGT			PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF46,Pfam_domain:PF07714,PIRSF_domain:PIRSF000615,SMART_domains:SM00219,PIRSF_domain:PIRSF500951	v-kit Hardy-Zuckerman 4 feline sarcoma viral	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	T:0.002		ENSP00000288135	T:0	15/21	4.94E-05		8.76E-05	0.000463			0.00111		rs192110951,COSM3409368	15/21	common_variant	Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors	ENST00000288135	Transcript	1	T:0.0004	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	ENSG00000157404	g.chr4:55597497C>T	6342			LOW								--	--	1																																		KIT_uc010igs.2_Silent_p.S711S|KIT_uc010igt.1_Silent_p.C163C	0,1	1			p.S715S	NM_000222	NP_000213	T:0		0,1	KIT_HUMAN	KIT	HGNC	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Q8TCG9_HUMAN		15	2232	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		UPI000003F17D	715			Protein kinase.|Cytoplasmic (Potential).		SNV	KIT,synonymous_variant,p.=,ENST00000288135,NM_000222.2,NM_001093772.1;KIT,synonymous_variant,p.=,ENST00000412167,;KIT,non_coding_transcript_exon_variant,,ENST00000512959,;	uc010igr.2	c.2145C>T	2242/5186	2	2		1	c.2145C>T	Mis|O	Piebald trait		GIST|epithelioma	GIST|AML|TGCT|mastocytosis|mucosal melanoma	4	SNP	c.(2143-2145)AGC>AGT	42	42		p.S715del(7)	soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	Broad	v-kit Hardy-Zuckerman 4 feline sarcoma viral		Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	55597497	Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors	0.458	ENSG00000157404	8188	g.chr4:55597497C>T	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			431			431	8.687666	KEEP	3	2	-1	5	15	3	2	-1	10.568489	5	15	0.190476	1	0	0	0	0	0	0	1	0	--	--		0	T			KIT_uc010igs.2_Silent_p.S711S|KIT_uc010igt.1_Silent_p.C163C	94	GBM-06-5411-TP	p.S715S	C	CTCCCAGCAGCGATAGTACTA	NM_000222	NP_000213	55597497	P10721	KIT_HUMAN	0	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	15	2232	+	T	T	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		Silent	715			Protein kinase.|Cytoplasmic (Potential).			
KIT	0	broad.mit.edu	GRCh37	4	55592080	55592080	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0616-01	TCGA-12-0616-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288135.5:c.1404G>A	p.Pro468=	p.P468=	ENST00000288135	NM_000222.2	468	ccG/ccA	0			1			A	P	uc010igr.2	protein_coding	YES	CCDS3496.1		1	1404/2931	Mis|O	Piebald trait		GIST|epithelioma	GIST|AML|TGCT|mastocytosis|mucosal melanoma			p.P468P(1)	soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	c.(1402-1404)CCG>CCA			hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF46,Gene3D:2.60.40.10,Pfam_domain:PF13927,PIRSF_domain:PIRSF000615,PIRSF_domain:PIRSF500951,Superfamily_domains:SSF48726	v-kit Hardy-Zuckerman 4 feline sarcoma viral	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)			ENSP00000288135		21-Sep	2.47E-05					1.51E-05		0.000122	rs767079772,COSM42899	21-Sep	.	Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors	ENST00000288135	Transcript	1		male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	ENSG00000157404	g.chr4:55592080G>A	6342			LOW								--	--	1																																		KIT_uc010igs.2_Silent_p.P468P|KIT_uc011bzw.1_5'Flank|KIT_uc010igt.1_5'Flank	0,1	1			p.P468P	NM_000222	NP_000213			0,1	KIT_HUMAN	KIT	HGNC	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Q8TCG9_HUMAN		9	1491	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		UPI000003F17D	468			Extracellular (Potential).|Ig-like C2-type 5.		SNV	KIT,synonymous_variant,p.=,ENST00000288135,NM_000222.2,NM_001093772.1;KIT,synonymous_variant,p.=,ENST00000412167,;KIT,upstream_gene_variant,,ENST00000512959,;	uc010igr.2	c.1404G>A	1501/5186	1	1		1	c.1404G>A	Mis|O	Piebald trait		GIST|epithelioma	GIST|AML|TGCT|mastocytosis|mucosal melanoma	4	SNP	c.(1402-1404)CCG>CCA	55	55		p.P468P(1)	soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	Broad	v-kit Hardy-Zuckerman 4 feline sarcoma viral		Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	55592080	Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors	0.453	ENSG00000157404	8188	g.chr4:55592080G>A	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			431			431	152.524433	KEEP	26	28	-1	45	34	26	28	-1	153.539901	45	34	0.403226	1	0	0	0	0	0	0	1	0	--	--		0	A			KIT_uc010igs.2_Silent_p.P468P|KIT_uc011bzw.1_5'Flank|KIT_uc010igt.1_5'Flank	118	GBM-12-0616-TP	p.P468P	G	CTGGGCCACCGTTTGGAAAGC	NM_000222	NP_000213	55592080	P10721	KIT_HUMAN	0	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	9	1491	+	A	A	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		Silent	468			Extracellular (Potential).|Ig-like C2-type 5.			
KIT	0	broad.mit.edu	GRCh37	4	55564507	55564507	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01	TCGA-28-2509-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288135.5:c.395C>T	p.Thr132Met	p.T132M	ENST00000288135	NM_000222.2	132	aCg/aTg	0			1			T	T/M	uc010igr.2	protein_coding	YES	CCDS3496.1		1	395/2931	Mis|O	Piebald trait		GIST|epithelioma	GIST|AML|TGCT|mastocytosis|mucosal melanoma				soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	c.(394-396)ACG>ATG			Gene3D:2.60.40.10,PIRSF_domain:PIRSF000615,PIRSF_domain:PIRSF500951	v-kit Hardy-Zuckerman 4 feline sarcoma viral	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)			ENSP00000288135		21-Mar	8.24E-06							6.25E-05	rs766253584,COSM3409367	21-Mar	.	Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors	ENST00000288135	Transcript	1		male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	ENSG00000157404	g.chr4:55564507C>T	6342			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=KIT_HUMAN&rb=121&re=205&var=T132M	getma.org/pdb.php?prot=KIT_HUMAN&from=121&to=205&var=T132M	getma.org/?cm=var&var=hg19,4,55564507,C,T&fts=all	T132M	--	--	1																																		KIT_uc010igs.2_Missense_Mutation_p.T132M	0,1	1		possibly_damaging(0.588)	p.T132M	NM_000222	NP_000213		deleterious(0.04)	0,1	KIT_HUMAN	KIT	HGNC	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Q8TCG9_HUMAN		3	482	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		UPI000003F17D	132			Extracellular (Potential).|Ig-like C2-type 2.		SNV	KIT,missense_variant,p.Thr132Met,ENST00000288135,NM_000222.2,NM_001093772.1;KIT,missense_variant,p.Thr132Met,ENST00000412167,;KIT,downstream_gene_variant,,ENST00000514582,;	uc010igr.2	c.395C>T	492/5186	1	1		1	c.395C>T	Mis|O	Piebald trait		GIST|epithelioma	GIST|AML|TGCT|mastocytosis|mucosal melanoma	4	SNP	c.(394-396)ACG>ATG	9	9			soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	Broad	v-kit Hardy-Zuckerman 4 feline sarcoma viral		Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	55564507	Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors	0.498	ENSG00000157404	8188	g.chr4:55564507C>T	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			431			431	5.411557	KEEP	4	2	-1	31	22	4	2	-1	12.99275	31	22	0.115385	1	0	0	0	0	1	0	0	0	--	--		0	T			KIT_uc010igs.2_Missense_Mutation_p.T132M	211	GBM-28-2509-TP	p.T132M	C	GACAACGACACGCTGGTCCGC	NM_000222	NP_000213	55564507	P10721	KIT_HUMAN	0	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	3	482	+	T	T	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		Missense_Mutation	132			Extracellular (Potential).|Ig-like C2-type 2.			
KIT	0	broad.mit.edu	GRCh37	4	55561826	55561826	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-32-2634-01	TCGA-32-2634-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288135.5:c.216T>A	p.Asp72Glu	p.D72E	ENST00000288135	NM_000222.2	72	gaT/gaA	0			1			A	D/E	uc010igr.2	protein_coding	YES	CCDS3496.1		1	216/2931	Mis|O	Piebald trait		GIST|epithelioma	GIST|AML|TGCT|mastocytosis|mucosal melanoma			p.571_572>GE(1)	soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	c.(214-216)GAT>GAA			Gene3D:2.60.40.10,Pfam_domain:PF13895,PIRSF_domain:PIRSF000615,SMART_domains:SM00409,PIRSF_domain:PIRSF500951	v-kit Hardy-Zuckerman 4 feline sarcoma viral	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)			ENSP00000288135		21-Feb									COSM3409366	21-Feb	.	Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors	ENST00000288135	Transcript	1		male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	ENSG00000157404	g.chr4:55561826T>A	6342			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=KIT_HUMAN&rb=35&re=111&var=D72E	getma.org/pdb.php?prot=KIT_HUMAN&from=35&to=111&var=D72E	getma.org/?cm=var&var=hg19,4,55561826,T,A&fts=all	D72E	--	--	1																																		KIT_uc010igs.2_Missense_Mutation_p.D72E	1	1		benign(0.001)	p.D72E	NM_000222	NP_000213		tolerated(0.71)	1	KIT_HUMAN	KIT	HGNC	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Q8TCG9_HUMAN		2	303	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		UPI000003F17D	72			Extracellular (Potential).|Ig-like C2-type 1.		SNV	KIT,missense_variant,p.Asp72Glu,ENST00000288135,NM_000222.2,NM_001093772.1;KIT,missense_variant,p.Asp72Glu,ENST00000412167,;KIT,non_coding_transcript_exon_variant,,ENST00000514582,;	uc010igr.2	c.216T>A	313/5186	2	2		1	c.216T>A	Mis|O	Piebald trait		GIST|epithelioma	GIST|AML|TGCT|mastocytosis|mucosal melanoma	4	SNP	c.(214-216)GAT>GAA	32	32		p.571_572>GE(1)	soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	Broad	v-kit Hardy-Zuckerman 4 feline sarcoma viral		Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	55561826	Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors	0.463	ENSG00000157404	8188	g.chr4:55561826T>A	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			431			431	116.186995	KEEP	15	28	-1	27	34	15	28	-1	116.972425	27	34	0.4	1	0	0	0	0	1	0	0	0	--	--		0	A			KIT_uc010igs.2_Missense_Mutation_p.D72E	241	GBM-32-2634-TP	p.D72E	T	AGATCCTGGATGAAACGAATG	NM_000222	NP_000213	55561826	P10721	KIT_HUMAN	0	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	2	303	+	A	A	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		Missense_Mutation	72			Extracellular (Potential).|Ig-like C2-type 1.			
KIT	0	broad.mit.edu	GRCh37	4	55561742	55561742	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-76-4934-01	TCGA-76-4934-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288135.5:c.132A>G	p.Ser44=	p.S44=	ENST00000288135	NM_000222.2	44	tcA/tcG	0			1			G	S	uc010igr.2	protein_coding	YES	CCDS3496.1		1	132/2931	Mis|O	Piebald trait		GIST|epithelioma	GIST|AML|TGCT|mastocytosis|mucosal melanoma				soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	c.(130-132)TCA>TCG			Gene3D:2.60.40.10,PIRSF_domain:PIRSF000615,SMART_domains:SM00409,PIRSF_domain:PIRSF500951	v-kit Hardy-Zuckerman 4 feline sarcoma viral	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)			ENSP00000288135		21-Feb									COSM3409365	21-Feb	.	Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors	ENST00000288135	Transcript	1		male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	ENSG00000157404	g.chr4:55561742A>G	6342			LOW								--	--	1																																		KIT_uc010igs.2_Silent_p.S44S	1	1			p.S44S	NM_000222	NP_000213			1	KIT_HUMAN	KIT	HGNC	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Q8TCG9_HUMAN		2	219	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		UPI000003F17D	44			Extracellular (Potential).|Ig-like C2-type 1.		SNV	KIT,synonymous_variant,p.=,ENST00000288135,NM_000222.2,NM_001093772.1;KIT,synonymous_variant,p.=,ENST00000412167,;KIT,non_coding_transcript_exon_variant,,ENST00000514582,;	uc010igr.2	c.132A>G	229/5186	3	3		1	c.132A>G	Mis|O	Piebald trait		GIST|epithelioma	GIST|AML|TGCT|mastocytosis|mucosal melanoma	4	SNP	c.(130-132)TCA>TCG	4	4			soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	Broad	v-kit Hardy-Zuckerman 4 feline sarcoma viral		Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	55561742	Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors	0.468	ENSG00000157404	8188	g.chr4:55561742A>G	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			431			431	3442.662594	KEEP	438	542	-1	9	11	438	542	-1	3483.788762	9	11	0.975992	1	0	0	0	0	0	0	1	0	--	--		0	G			KIT_uc010igs.2_Silent_p.S44S	272	GBM-76-4934-TP	p.S44S	A	CAGGAAAATCAGACTTAATAG	NM_000222	NP_000213	55561742	P10721	KIT_HUMAN	0	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	2	219	+	G	G	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		Silent	44			Extracellular (Potential).|Ig-like C2-type 1.			
KITLG	0	broad.mit.edu	GRCh37	12	88939597	88939597	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-4927-01	TCGA-76-4927-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000228280.5:c.61C>G	p.Pro21Ala	p.P21A	ENST00000228280	NM_000899.4	21	Cct/Gct	0			1			C	P/A	uc001tav.2	protein_coding	YES	CCDS31868.1			61/822									ovary(1)	1	c.(61-63)CCT>GCT			Cleavage_site_(Signalp):SignalP-noTM,PIRSF_domain:PIRSF015599,Pfam_domain:PF02404,hmmpanther:PTHR11574	KIT ligand isoform b precursor				ENSP00000228280		10-Feb									COSM3399165	10-Feb	.	Testicular_Cancer_Familial_Clustering_of	ENST00000228280	Transcript	1		cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding	ENSG00000049130	g.chr12:88939597G>C	6343			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=SCF_HUMAN&rb=1&re=273&var=P21A	NA	getma.org/?cm=var&var=hg19,12,88939597,G,C&fts=all	P21A	--	--	1																																		KITLG_uc001taw.2_Missense_Mutation_p.P21A	1	1		possibly_damaging(0.796)	p.P21A	NM_000899	NP_000890		deleterious(0.01)	1	SCF_HUMAN	KITLG	HGNC	P21583	SCF_HUMAN			S4R442_HUMAN,S4R384_HUMAN		2	244	-			UPI000002D482	21					SNV	KITLG,missense_variant,p.Pro21Ala,ENST00000347404,NM_003994.5;KITLG,missense_variant,p.Pro21Ala,ENST00000228280,NM_000899.4;KITLG,5_prime_UTR_variant,,ENST00000552044,;KITLG,intron_variant,,ENST00000357116,;	uc001tav.2	c.61C>G	244/1642	3	3			c.61C>G						12	SNP	c.(61-63)CCT>GCT	7	7			ovary(1)	1	Broad	KIT ligand isoform b precursor			88939597	Testicular_Cancer_Familial_Clustering_of	0.363	ENSG00000049130	8189	g.chr12:88939597G>C	cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding							111.829671	KEEP	20	18	-1	53	52	20	18	-1	116.664137	53	52	0.284483	1	0	0	0	0	1	0	0	0	--	--		0	C			KITLG_uc001taw.2_Missense_Mutation_p.P21A	267	GBM-76-4927-TP	p.P21A	G	TTGACGAGAGGATTAAATAGG	NM_000899	NP_000890	88939597	P21583	SCF_HUMAN	0			2	244	-	C	C			Missense_Mutation	21						
KLB	0	broad.mit.edu	GRCh37	4	39435838	39435838	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-3652-01	TCGA-12-3652-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257408.4:c.834G>A	p.Ser278=	p.S278=	ENST00000257408	NM_175737.3	278	tcG/tcA	0			1			A	S	uc003gua.2	protein_coding	YES	CCDS3451.1			834/3135									skin(1)	1	c.(832-834)TCG>TCA			hmmpanther:PTHR10353:SF7,hmmpanther:PTHR10353,Pfam_domain:PF00232,Gene3D:3.20.20.80,Superfamily_domains:SSF51445	klotho beta				ENSP00000257408		5-Feb	6.59E-05		0.000521			3.07E-05			rs761233375,COSM3409286	5-Feb	common_variant		ENST00000257408	Transcript			carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	ENSG00000134962	g.chr4:39435838G>A	15527			LOW								--	--	1																																		KLB_uc011byj.1_Silent_p.S278S	0,1	1			p.S278S	NM_175737	NP_783864			0,1	KLOTB_HUMAN	KLB	HGNC	Q86Z14	KLOTB_HUMAN					2	931	+			UPI000000D726	278			Extracellular (Potential).|Glycosyl hydrolase-1 1.		SNV	KLB,synonymous_variant,p.=,ENST00000257408,NM_175737.3;	uc003gua.2	c.834G>A	931/6082	2	2			c.834G>A						4	SNP	c.(832-834)TCG>TCA	22	22			skin(1)	1	Broad	klotho beta			39435838		0.413	ENSG00000134962	8191	g.chr4:39435838G>A	carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds							163.287796	KEEP	36	24	-1	31	38	36	24	-1	163.516786	31	38	0.452174	1	0	0	0	0	0	0	1	0	--	--		0	A			KLB_uc011byj.1_Silent_p.S278S	127	GBM-12-3652-TP	p.S278S	G	AGGCTCACTCGAAAGTTTGGC	NM_175737	NP_783864	39435838	Q86Z14	KLOTB_HUMAN	0			2	931	+	A	A			Silent	278			Extracellular (Potential).|Glycosyl hydrolase-1 1.			
KLB	0	broad.mit.edu	GRCh37	4	39408665	39408665	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-2491-01	TCGA-32-2491-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257408.4:c.96C>A	p.Asn32Lys	p.N32K	ENST00000257408	NM_175737.3	32	aaC/aaA	0			1			A	N/K	uc003gua.2	protein_coding	YES	CCDS3451.1			96/3135									skin(1)	1	c.(94-96)AAC>AAA			hmmpanther:PTHR10353:SF7,hmmpanther:PTHR10353	klotho beta				ENSP00000257408		5-Jan									COSM3409285	5-Jan	.		ENST00000257408	Transcript			carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	ENSG00000134962	g.chr4:39408665C>A	15527			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=KLOTB_HUMAN&rb=1&re=76&var=N32K	NA	getma.org/?cm=var&var=hg19,4,39408665,C,A&fts=all	N32K	--	--	1																																		KLB_uc011byj.1_Missense_Mutation_p.N32K	1	1		benign(0.003)	p.N32K	NM_175737	NP_783864		tolerated_low_confidence(0.38)	1	KLOTB_HUMAN	KLB	HGNC	Q86Z14	KLOTB_HUMAN					1	193	+			UPI000000D726	32			Extracellular (Potential).		SNV	KLB,missense_variant,p.Asn32Lys,ENST00000257408,NM_175737.3;MIR5591,upstream_gene_variant,,ENST00000578248,;	uc003gua.2	c.96C>A	193/6082	1	1			c.96C>A						4	SNP	c.(94-96)AAC>AAA	63	63			skin(1)	1	Broad	klotho beta			39408665		0.453	ENSG00000134962	8191	g.chr4:39408665C>A	carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds							-28.399695	KEEP	2	1	0.333333333	67	71	2	1	0.333333333	6.570683	67	71	0.021898	1	0	0	0	0	1	0	0	0	--	--		0	A			KLB_uc011byj.1_Missense_Mutation_p.N32K	235	GBM-32-2491-TP	p.N32K	C	CAATGTCCAACGGGGGATTGC	NM_175737	NP_783864	39408665	Q86Z14	KLOTB_HUMAN	0			1	193	+	A	A			Missense_Mutation	32			Extracellular (Potential).			
KLC1	3831		GRCh37	14	104135871	104135871	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000452929.2:c.821C>A	p.Ala274Glu	p.A274E	ENST00000452929	NM_001130107.1	274	gCa/gAa	0																																																																																																																																																																																																																																												
KLC2	64837	broad.mit.edu	GRCh37	11	66033175	66033175	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0154-01	TCGA-06-0154-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000417856.1:c.1384C>T	p.Gln462Ter	p.Q462*	ENST00000417856	NM_001134775.1	462	Cag/Tag	0			1			T	Q/*	uc010rov.1	protein_coding		CCDS8130.1			1384/1869										0	c.(1384-1386)CAG>TAG			hmmpanther:PTHR19959,hmmpanther:PTHR19959:SF126,Gene3D:1.25.40.10,Pfam_domain:PF13374,Superfamily_domains:SSF48452	kinesin light chain 2 isoform 1				ENSP00000314837		16-Dec									COSM2149930	16-Dec	.		ENST00000316924	Transcript			blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	ENSG00000174996	g.chr11:66033175C>T	20716			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,11,66033175,C,T&fts=all	Q462*	--	--	1																																		KLC2_uc010row.1_Nonsense_Mutation_p.Q462*|KLC2_uc009yra.2_Intron|KLC2_uc001ohb.2_Nonsense_Mutation_p.Q462*|KLC2_uc010rox.1_Nonsense_Mutation_p.Q385*|KLC2_uc001ohc.2_Nonsense_Mutation_p.Q462*|KLC2_uc001ohd.2_Nonsense_Mutation_p.Q385*|KLC2_uc001ohe.1_Nonsense_Mutation_p.Q323*|RAB1B_uc001ohf.2_5'Flank	1				p.Q462*	NM_001134775	NP_001128247			1	KLC2_HUMAN	KLC2	HGNC	Q9H0B6	KLC2_HUMAN			E9PP09_HUMAN,E9PM83_HUMAN,E9PI24_HUMAN,C9JHT2_HUMAN		12	1627	+			UPI0000001645	462			TPR 6.		SNV	KLC2,stop_gained,p.Gln323Ter,ENST00000394065,;KLC2,stop_gained,p.Gln462Ter,ENST00000417856,NM_001134775.1;KLC2,stop_gained,p.Gln462Ter,ENST00000316924,NM_022822.2;KLC2,stop_gained,p.Gln462Ter,ENST00000394067,NM_001134776.1;KLC2,stop_gained,p.Gln385Ter,ENST00000421552,NM_001134774.1;KLC2,stop_gained,p.Gln385Ter,ENST00000394066,;KLC2,intron_variant,,ENST00000394078,;RAB1B,upstream_gene_variant,,ENST00000311481,NM_030981.2;KLC2,downstream_gene_variant,,ENST00000475757,;RAB1B,upstream_gene_variant,,ENST00000527397,;KLC2,downstream_gene_variant,,ENST00000461611,;KLC2,downstream_gene_variant,,ENST00000440228,;KLC2,downstream_gene_variant,,ENST00000526758,;KLC2,downstream_gene_variant,,ENST00000531240,;RP11-867G23.3,downstream_gene_variant,,ENST00000501708,;RP11-755F10.3,upstream_gene_variant,,ENST00000533576,;RP11-867G23.1,upstream_gene_variant,,ENST00000530805,;RP11-867G23.2,downstream_gene_variant,,ENST00000533287,;KLC2,downstream_gene_variant,,ENST00000483152,;KLC2,downstream_gene_variant,,ENST00000534023,;	uc010rov.1	c.1384C>T	1601/2990	5	2			c.1384C>T						11	SNP	c.(1384-1386)CAG>TAG	30	30				0	Broad	kinesin light chain 2 isoform 1			66033175		0.647	ENSG00000174996	8193	g.chr11:66033175C>T	blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding							43.740672	KEEP	9	6	-1	13	13	9	6	-1	44.221095	13	13	0.378378	1	0	0	0	0	0	1	0	0	--	--		0	T			KLC2_uc010row.1_Nonsense_Mutation_p.Q462*|KLC2_uc009yra.2_Intron|KLC2_uc001ohb.2_Nonsense_Mutation_p.Q462*|KLC2_uc010rox.1_Nonsense_Mutation_p.Q385*|KLC2_uc001ohc.2_Nonsense_Mutation_p.Q462*|KLC2_uc001ohd.2_Nonsense_Mutation_p.Q385*|KLC2_uc001ohe.1_Nonsense_Mutation_p.Q323*|RAB1B_uc001ohf.2_5'Flank	26	GBM-06-0154-TP	p.Q462*	C	ATACCGGCGCCAGGGCAAGCT	NM_001134775	NP_001128247	66033175	Q9H0B6	KLC2_HUMAN	0			12	1627	+	T	T			Nonsense_Mutation	462			TPR 6.			
KLC3	0	broad.mit.edu	GRCh37	19	45849928	45849929	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	rs141629020	by1000genomes	TCGA-19-4068-01	TCGA-19-4068-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000391946.2:c.387dupG	p.Leu130AlafsTer37	p.L130Afs*37	ENST00000391946	NM_177417.2	129	cgg/cGgg	0			1			G	R/RX	uc002pbf.1	protein_coding	YES	CCDS12660.2			385-386/1515									ovary(1)	1	c.(385-387)CGGfs			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF09311,hmmpanther:PTHR19959,hmmpanther:PTHR19959:SF125,Low_complexity_(Seg):seg	kinesin light chain 3				ENSP00000375810		13-Mar									rs141629020	13-Mar	.		ENST00000391946	Transcript				cytoplasm|kinesin complex|microtubule	microtubule motor activity	ENSG00000104892	g.chr19:45849928_45849929insG	20717	2		HIGH								--	--	1																																		KLC3_uc002pbe.2_Frame_Shift_Ins_p.R129fs|KLC3_uc010ejy.1_Frame_Shift_Ins_p.R129fs|KLC3_uc002pbg.1_Frame_Shift_Ins_p.R143fs		1			p.R129fs	NM_177417	NP_803136				KLC3_HUMAN	KLC3	HGNC	Q6P597	KLC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	K7ELP9_HUMAN,K7EL76_HUMAN		3	500_501	+		Ovarian(192;0.0728)|all_neural(266;0.112)	UPI000007022B	129			Potential.		insertion	KLC3,frameshift_variant,p.Leu130AlafsTer37,ENST00000589373,;KLC3,frameshift_variant,p.Leu144AlafsTer37,ENST00000470402,;KLC3,frameshift_variant,p.Leu130AlafsTer37,ENST00000391946,NM_177417.2;KLC3,frameshift_variant,p.Leu130AlafsTer36,ENST00000585434,;KLC3,frameshift_variant,p.Leu114AlafsTer37,ENST00000589837,;KLC3,frameshift_variant,p.Leu130AlafsTer?,ENST00000590063,;ERCC2,downstream_gene_variant,,ENST00000391945,NM_000400.3;ERCC2,downstream_gene_variant,,ENST00000391944,;KLC3,non_coding_transcript_exon_variant,,ENST00000494686,;ERCC2,downstream_gene_variant,,ENST00000588652,;ERCC2,downstream_gene_variant,,ENST00000391942,;	uc002pbf.1	c.385_386insG	487-488/1780	5	5			c.385_386insG						19	INS	c.(385-387)CGGfs	24	24			ovary(1)	1	Broad	kinesin light chain 3			45849929		0.713	ENSG00000104892	8194	g.chr19:45849928_45849929insG		cytoplasm|kinesin complex|microtubule	microtubule motor activity			4			4														0.38	1	0	0	1	1	0	0	0	0	--	--		0	G			KLC3_uc002pbe.2_Frame_Shift_Ins_p.R129fs|KLC3_uc010ejy.1_Frame_Shift_Ins_p.R129fs|KLC3_uc002pbg.1_Frame_Shift_Ins_p.R143fs	168	GBM-19-4068-TP	p.R129fs	-	GACGCAGCGGCGGCTTCGGGCC	NM_177417	NP_803136	45849928	Q6P597	KLC3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	3	500_501	+	G	G		Ovarian(192;0.0728)|all_neural(266;0.112)	Frame_Shift_Ins	129			Potential.			
KLC3	0	broad.mit.edu	GRCh37	19	45853908	45853908	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01	TCGA-19-5955-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000391946.2:c.1282C>T	p.Arg428Cys	p.R428C	ENST00000391946	NM_177417.2	428	Cgc/Tgc	0	T:0.0003		1			T	R/C	uc002pbf.1	protein_coding	YES	CCDS12660.2			1282/1515									ovary(1)	1	c.(1282-1284)CGC>TGC			hmmpanther:PTHR19959,hmmpanther:PTHR19959:SF125	kinesin light chain 3			T:0	ENSP00000375810		13-Nov	2.48E-05	0.000108				3.13E-05			rs373353596,COSM2156803	13-Nov	.		ENST00000391946	Transcript				cytoplasm|kinesin complex|microtubule	microtubule motor activity	ENSG00000104892	g.chr19:45853908C>T	20717			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=KLC3_HUMAN&rb=404&re=504&var=R428C	NA	getma.org/?cm=var&var=hg19,19,45853908,C,T&fts=all	R428C	--	--	1																																		KLC3_uc010ejy.1_Missense_Mutation_p.R427C|KLC3_uc002pbg.1_Missense_Mutation_p.R442C	0,1	1		possibly_damaging(0.689)	p.R428C	NM_177417	NP_803136		deleterious(0)	0,1	KLC3_HUMAN	KLC3	HGNC	Q6P597	KLC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	K7ELP9_HUMAN,K7EL76_HUMAN		11	1397	+		Ovarian(192;0.0728)|all_neural(266;0.112)	UPI000007022B	428					SNV	KLC3,missense_variant,p.Arg442Cys,ENST00000470402,;KLC3,missense_variant,p.Arg428Cys,ENST00000391946,NM_177417.2;KLC3,missense_variant,p.Arg427Cys,ENST00000585434,;ERCC2,3_prime_UTR_variant,,ENST00000391945,NM_000400.3;ERCC2,downstream_gene_variant,,ENST00000391941,;ERCC2,downstream_gene_variant,,ENST00000391944,;KLC3,downstream_gene_variant,,ENST00000589373,;KLC3,downstream_gene_variant,,ENST00000589837,;KLC3,downstream_gene_variant,,ENST00000590063,;ERCC2,downstream_gene_variant,,ENST00000588652,;ERCC2,downstream_gene_variant,,ENST00000391942,;KLC3,downstream_gene_variant,,ENST00000494686,;ERCC2,downstream_gene_variant,,ENST00000587376,;	uc002pbf.1	c.1282C>T	1384/1780	2	2			c.1282C>T						19	SNP	c.(1282-1284)CGC>TGC	43	43			ovary(1)	1	Broad	kinesin light chain 3			45853908		0.692	ENSG00000104892	8194	g.chr19:45853908C>T		cytoplasm|kinesin complex|microtubule	microtubule motor activity			4			4	16.870471	KEEP	3	5	-1	11	21	3	5	-1	20.232069	11	21	0.2	1	0	0	0	0	1	0	0	0	--	--		0	T			KLC3_uc010ejy.1_Missense_Mutation_p.R427C|KLC3_uc002pbg.1_Missense_Mutation_p.R442C	175	GBM-19-5955-TP	p.R428C	C	GGCCCTTCGCCGCAGCAGCTC	NM_177417	NP_803136	45853908	Q6P597	KLC3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	11	1397	+	T	T		Ovarian(192;0.0728)|all_neural(266;0.112)	Missense_Mutation	428						
KLF1	10661	broad.mit.edu	GRCh37	19	12996209	12996209	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01	TCGA-06-0876-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264834.4:c.835C>T	p.His279Tyr	p.H279Y	ENST00000264834	NM_006563.3	279	Cac/Tac	0			1			A	H/Y	uc002mvo.2	protein_coding	YES	CCDS12285.1			835/1089										0	c.(835-837)CAC>TAC			Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF135,SMART_domains:SM00355	erythroid Kruppel-like factor				ENSP00000264834		3-Feb	8.27E-06								rs777110892,COSM2152083	3-Feb	.		ENST00000264834	Transcript	1		erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	ENSG00000105610	g.chr19:12996209G>A	6345			MODERATE		2.55	medium	getma.org/?cm=msa&ty=f&p=KLF1_HUMAN&rb=260&re=294&var=H279Y	NA	getma.org/?cm=var&var=hg19,19,12996209,G,A&fts=all	H279Y	--	--	1																																			0,1	1		probably_damaging(0.932)	p.H279Y	NM_006563	NP_006554		deleterious(0.04)	0,1	KLF1_HUMAN	KLF1	HGNC	Q13351	KLF1_HUMAN		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)	B9UZC3_HUMAN		2	898	-		Hepatocellular(1079;0.137)	UPI000012DED2	279			C2H2-type 1.		SNV	KLF1,missense_variant,p.His279Tyr,ENST00000264834,NM_006563.3;DNASE2,upstream_gene_variant,,ENST00000222219,NM_001375.2;DNASE2,upstream_gene_variant,,ENST00000538460,;DNASE2,upstream_gene_variant,,ENST00000592506,;CTD-2265O21.7,downstream_gene_variant,,ENST00000592400,;	uc002mvo.2	c.835C>T	876/1592	1	1			c.835C>T						19	SNP	c.(835-837)CAC>TAC	60	60				0	Broad	erythroid Kruppel-like factor			12996209		0.692	ENSG00000105610	8196	g.chr19:12996209G>A	erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding							15.676404	KEEP	6	5	-1	23	12	6	5	-1	18.82434	23	12	0.205128	1	0	0	0	0	1	0	0	0	--	--		0	A				72	GBM-06-0876-TP	p.H279Y	G	GCGCACGTGTGCGCTGCCTGC	NM_006563	NP_006554	12996209	Q13351	KLF1_HUMAN	0		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)	2	898	-	A	A		Hepatocellular(1079;0.137)	Missense_Mutation	279			C2H2-type 1.			
KLF10	7071	broad.mit.edu	GRCh37	8	103662460	103662460	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01	TCGA-06-2565-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285407.6:c.1343C>T	p.Ala448Val	p.A448V	ENST00000285407	NM_005655.3	448	gCc/gTc	0			1			A	A/V	uc011lhk.1	protein_coding	YES	CCDS6294.1			1343/1443										0	c.(1342-1344)GCC>GTC			Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF21,SMART_domains:SM00355,Superfamily_domains:SSF57667	Kruppel-like factor 10 isoform a				ENSP00000285407		4-Apr									COSM2152982	4-Apr	.		ENST00000285407	Transcript			cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000155090	g.chr8:103662460G>A	11810			MODERATE		2.005	medium	getma.org/?cm=msa&ty=f&p=KLF10_HUMAN&rb=439&re=480&var=A448V	NA	getma.org/?cm=var&var=hg19,8,103662460,G,A&fts=all	A448V	--	--	1																																		KLF10_uc011lhj.1_Missense_Mutation_p.A437V	1	1		possibly_damaging(0.685)	p.A448V	NM_005655	NP_005646		deleterious(0.03)	1	KLF10_HUMAN	KLF10	HGNC	Q13118	KLF10_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)				4	1497	-	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		UPI000012DED8	448			C2H2-type 3.		SNV	KLF10,missense_variant,p.Ala437Val,ENST00000395884,NM_001032282.3;KLF10,missense_variant,p.Ala448Val,ENST00000285407,NM_005655.3;	uc011lhk.1	c.1343C>T	1644/3097	1	1			c.1343C>T						8	SNP	c.(1342-1344)GCC>GTC	61	61				0	Broad	Kruppel-like factor 10 isoform a			103662460		0.542	ENSG00000155090	8197	g.chr8:103662460G>A	cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	Esophageal Squamous(16;495 519 2144 16528 44005)			Esophageal Squamous(16;495 519 2144 16528 44005)			201.726878	KEEP	43	44	-1	57	54	43	44	-1	202.648018	57	54	0.421965	1	0	0	0	0	1	0	0	0	--	--		0	A			KLF10_uc011lhj.1_Missense_Mutation_p.A437V	88	GBM-06-2565-TP	p.A448V	G	ATGGCGCCGGGCATGCTTGGT	NM_005655	NP_005646	103662460	Q13118	KLF10_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)		4	1497	-	A	A	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		Missense_Mutation	448			C2H2-type 3.			
KLF11	0	broad.mit.edu	GRCh37	2	10186413	10186413	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-27-2518-01	TCGA-27-2518-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305883.1:c.179G>T	p.Arg60Ile	p.R60I	ENST00000305883	NM_003597.4	60	aGa/aTa	0			1			T	R/I	uc002raf.1	protein_coding	YES	CCDS1668.1			179/1539									ovary(2)	2	c.(178-180)AGA>ATA			hmmpanther:PTHR23223:SF8,hmmpanther:PTHR23223	Kruppel-like factor 11				ENSP00000307023		4-Feb									COSM2157290	4-Feb	.		ENST00000305883	Transcript	1		apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	ENSG00000172059	g.chr2:10186413G>T	11811			MODERATE		2.36	medium	getma.org/?cm=msa&ty=f&p=KLF11_HUMAN&rb=13&re=346&var=R60I	NA	getma.org/?cm=var&var=hg19,2,10186413,G,T&fts=all	R60I	--	--	1																																		KLF11_uc010yjc.1_Missense_Mutation_p.R43I	1	1		probably_damaging(0.996)	p.R60I	NM_003597	NP_003588		deleterious(0)	1	KLF11_HUMAN	KLF11	HGNC	O14901	KLF11_HUMAN		Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)	Q53QU8_HUMAN,E7EX78_HUMAN,C9JM94_HUMAN,B5MCC4_HUMAN		2	341	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		UPI000012DEDA	60					SNV	KLF11,missense_variant,p.Arg43Ile,ENST00000535335,NM_001177718.1;KLF11,missense_variant,p.Arg60Ile,ENST00000305883,NM_003597.4;KLF11,missense_variant,p.Arg43Ile,ENST00000540845,NM_001177716.1;KLF11,missense_variant,p.Arg43Ile,ENST00000440320,;KLF11,missense_variant,p.Arg43Ile,ENST00000401510,;KLF11,missense_variant,p.Arg43Ile,ENST00000448523,;	uc002raf.1	c.179G>T	341/4030	2	2			c.179G>T						2	SNP	c.(178-180)AGA>ATA	20	20			ovary(2)	2	Broad	Kruppel-like factor 11			10186413		0.537	ENSG00000172059	8198	g.chr2:10186413G>T	apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	Melanoma(56;431 1507 23687 50789)			Melanoma(56;431 1507 23687 50789)			72.068122	KEEP	12	16	0.428571429	29	29	12	16	0.428571429	73.659644	29	29	0.35	1	0	0	0	0	1	0	0	0	--	--		0	T			KLF11_uc010yjc.1_Missense_Mutation_p.R43I	198	GBM-27-2518-TP	p.R60I	G	TGGGGTCAAAGATCCCAGAAA	NM_003597	NP_003588	10186413	O14901	KLF11_HUMAN	0		Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)	2	341	+	T	T	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		Missense_Mutation	60						
KLF11	0	broad.mit.edu	GRCh37	2	10188462	10188462	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01	TCGA-76-6193-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305883.1:c.998C>T	p.Ala333Val	p.A333V	ENST00000305883	NM_003597.4	333	gCt/gTt	0			1			T	A/V	uc002raf.1	protein_coding	YES	CCDS1668.1			998/1539									ovary(2)	2	c.(997-999)GCT>GTT			Low_complexity_(Seg):seg,hmmpanther:PTHR23223:SF8,hmmpanther:PTHR23223	Kruppel-like factor 11				ENSP00000307023		4-Mar	8.24E-06				0.000151				rs765760613,COSM2980200	4-Mar	.		ENST00000305883	Transcript	1		apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	ENSG00000172059	g.chr2:10188462C>T	11811			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=KLF11_HUMAN&rb=13&re=346&var=A333V	NA	getma.org/?cm=var&var=hg19,2,10188462,C,T&fts=all	A333V	--	--	1																																OREG0014425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	KLF11_uc010yjc.1_Missense_Mutation_p.A316V	0,1	1		benign(0.012)	p.A333V	NM_003597	NP_003588		tolerated(0.05)	0,1	KLF11_HUMAN	KLF11	HGNC	O14901	KLF11_HUMAN		Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)	Q53QU8_HUMAN,E7EX78_HUMAN,C9JM94_HUMAN,B5MCC4_HUMAN		3	1160	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		UPI000012DEDA	333					SNV	KLF11,missense_variant,p.Ala316Val,ENST00000535335,NM_001177718.1;KLF11,missense_variant,p.Ala333Val,ENST00000305883,NM_003597.4;KLF11,missense_variant,p.Ala316Val,ENST00000540845,NM_001177716.1;KLF11,downstream_gene_variant,,ENST00000440320,;KLF11,downstream_gene_variant,,ENST00000401510,;KLF11,downstream_gene_variant,,ENST00000448523,;	uc002raf.1	c.998C>T	1160/4030	2	2			c.998C>T						2	SNP	c.(997-999)GCT>GTT	26	26			ovary(2)	2	Broad	Kruppel-like factor 11			10188462		0.622	ENSG00000172059	8198	g.chr2:10188462C>T	apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	Melanoma(56;431 1507 23687 50789)			Melanoma(56;431 1507 23687 50789)			-8.209054	KEEP	2	1	-1	28	44	2	1	-1	6.615184	28	44	0.044776	1	0	0	0	0	1	0	0	0	--	--		0	T	OREG0014425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	KLF11_uc010yjc.1_Missense_Mutation_p.A316V	276	GBM-76-6193-TP	p.A333V	C	GTGGGACCTGCTGTGCCTCAG	NM_003597	NP_003588	10188462	O14901	KLF11_HUMAN	0		Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)	3	1160	+	T	T	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		Missense_Mutation	333						
KLF12	0	broad.mit.edu	GRCh37	13	74387376	74387376	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01	TCGA-12-3652-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377669.2:c.719G>A	p.Ser240Asn	p.S240N	ENST00000377669	NM_007249.4	240	aGt/aAt	0			1			T	S/N	uc001vjf.2	protein_coding	YES	CCDS9449.1			719/1209									ovary(1)	1	c.(718-720)AGT>AAT			hmmpanther:PTHR23223:SF136,hmmpanther:PTHR23223	Kruppel-like factor 12				ENSP00000366897		7-Apr									COSM3399443	7-Apr	.		ENST00000377669	Transcript			negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	ENSG00000118922	g.chr13:74387376C>T	6346			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=KLF12_HUMAN&rb=224&re=272&var=S240N	NA	getma.org/?cm=var&var=hg19,13,74387376,C,T&fts=all	S240N	--	--	1																																		KLF12_uc010aeq.2_Missense_Mutation_p.S240N|KLF12_uc001vjg.3_Missense_Mutation_p.S240N	1	1		probably_damaging(0.986)	p.S240N	NM_007249	NP_009180		deleterious(0.02)	1	KLF12_HUMAN	KLF12	HGNC	Q9Y4X4	KLF12_HUMAN		GBM - Glioblastoma multiforme(99;0.00677)			5	941	-		Prostate(6;0.00217)|Breast(118;0.0838)	UPI000013D144	240					SNV	KLF12,missense_variant,p.Ser240Asn,ENST00000377669,NM_007249.4;KLF12,missense_variant,p.Ser240Asn,ENST00000377666,;KLF12,non_coding_transcript_exon_variant,,ENST00000472022,;	uc001vjf.2	c.719G>A	746/10637	1	1			c.719G>A						13	SNP	c.(718-720)AGT>AAT	1	1			ovary(1)	1	Broad	Kruppel-like factor 12			74387376		0.423	ENSG00000118922	8199	g.chr13:74387376C>T	negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding							101.352589	KEEP	22	20	-1	64	51	22	20	-1	108.509086	64	51	0.267123	1	0	0	0	0	1	0	0	0	--	--		0	T			KLF12_uc010aeq.2_Missense_Mutation_p.S240N|KLF12_uc001vjg.3_Missense_Mutation_p.S240N	127	GBM-12-3652-TP	p.S240N	C	ATCATCATCACTGTCACTTTT	NM_007249	NP_009180	74387376	Q9Y4X4	KLF12_HUMAN	0		GBM - Glioblastoma multiforme(99;0.00677)	5	941	-	T	T		Prostate(6;0.00217)|Breast(118;0.0838)	Missense_Mutation	240						
KLF15	0	broad.mit.edu	GRCh37	3	126071173	126071173	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-14-3476-01	TCGA-14-3476-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296233.3:c.593G>C	p.Gly198Ala	p.G198A	ENST00000296233	NM_014079.3	198	gGt/gCt	0			1			G	G/A	uc011bkk.1	protein_coding	YES	CCDS3036.1			593/1251									lung(1)	1	c.(592-594)GGT>GCT			hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF146,Low_complexity_(Seg):seg	Kruppel-like factor 15				ENSP00000296233		3-Feb									COSM3408196	3-Feb	.		ENST00000296233	Transcript				nucleus	DNA binding|zinc ion binding	ENSG00000163884	g.chr3:126071173C>G	14536			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=KLF15_HUMAN&rb=1&re=200&var=G198A	NA	getma.org/?cm=var&var=hg19,3,126071173,C,G&fts=all	G198A	--	--	1																																			1	1		benign(0.007)	p.G198A	NM_014079	NP_054798		tolerated(0.52)	1	KLF15_HUMAN	KLF15	HGNC	Q9UIH9	KLF15_HUMAN		GBM - Glioblastoma multiforme(114;0.147)			2	775	-			UPI0000001659	198					SNV	KLF15,missense_variant,p.Gly198Ala,ENST00000296233,NM_014079.3;KLF15,downstream_gene_variant,,ENST00000509675,;	uc011bkk.1	c.593G>C	824/2574	3	3			c.593G>C						3	SNP	c.(592-594)GGT>GCT	6	6			lung(1)	1	Broad	Kruppel-like factor 15			126071173		0.662	ENSG00000163884	8202	g.chr3:126071173C>G		nucleus	DNA binding|zinc ion binding							-1.969974	KEEP	0	2	-1	14	27	0	2	-1	6.606787	14	27	0.05	1	0	0	0	0	1	0	0	0	--	--		0	G				151	GBM-14-3476-TP	p.G198A	C	TGCACTGGCACCACCTGGTGG	NM_014079	NP_054798	126071173	Q9UIH9	KLF15_HUMAN	0		GBM - Glioblastoma multiforme(114;0.147)	2	775	-	G	G			Missense_Mutation	198						
KLF17	128209	broad.mit.edu	GRCh37	1	44595217	44595217	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01	TCGA-06-0155-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372299.3:c.274C>T	p.Pro92Ser	p.P92S	ENST00000372299	NM_173484.3	92	Cca/Tca	0			1			T	P/S	uc001clp.2	protein_coding	YES	CCDS508.1			274/1170									ovary(1)|skin(1)	2	c.(274-276)CCA>TCA			hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF5	zinc finger protein 393				ENSP00000361373		4-Feb									COSM3400830,COSM3400829	4-Feb	.		ENST00000372299	Transcript			regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	ENSG00000171872	g.chr1:44595217C>T	18830			MODERATE		-0.625	neutral	getma.org/?cm=msa&ty=f&p=KLF17_HUMAN&rb=4&re=156&var=P92S	NA	getma.org/?cm=var&var=hg19,1,44595217,C,T&fts=all	P92S	--	--	1																																		KLF17_uc009vxf.1_Missense_Mutation_p.P55S	1,1	1		benign(0.001)	p.P92S	NM_173484	NP_775755		tolerated(1)	1,1	KLF17_HUMAN	KLF17	HGNC	Q5JT82	KLF17_HUMAN					2	332	+	Acute lymphoblastic leukemia(166;0.155)		UPI000013E95E	92					SNV	KLF17,missense_variant,p.Pro92Ser,ENST00000372299,NM_173484.3;KLF17,non_coding_transcript_exon_variant,,ENST00000476802,;	uc001clp.2	c.274C>T	332/3131	2	2			c.274C>T						1	SNP	c.(274-276)CCA>TCA	17	17			ovary(1)|skin(1)	2	Broad	zinc finger protein 393			44595217		0.567	ENSG00000171872	8203	g.chr1:44595217C>T	regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding							-31.097509	KEEP	1	3	-1	77	77	1	3	-1	6.30437	77	77	0.02649	1	0	0	0	0	1	0	0	0	--	--		0	T			KLF17_uc009vxf.1_Missense_Mutation_p.P55S	27	GBM-06-0155-TP	p.P92S	C	GTTCAGTATGCCACTGCCTGA	NM_173484	NP_775755	44595217	Q5JT82	KLF17_HUMAN	0			2	332	+	T	T	Acute lymphoblastic leukemia(166;0.155)		Missense_Mutation	92						
KLF17	0	broad.mit.edu	GRCh37	1	44595136	44595136	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01	TCGA-12-0618-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372299.3:c.193G>A	p.Ala65Thr	p.A65T	ENST00000372299	NM_173484.3	65	Gca/Aca	0			1			A	A/T	uc001clp.2	protein_coding	YES	CCDS508.1			193/1170									ovary(1)|skin(1)	2	c.(193-195)GCA>ACA			hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF5	zinc finger protein 393				ENSP00000361373		4-Feb	2.47E-05							0.000209	rs761384044,COSM2153590,COSM2153591	4-Feb	.		ENST00000372299	Transcript			regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	ENSG00000171872	g.chr1:44595136G>A	18830			MODERATE		-0.895	neutral	getma.org/?cm=msa&ty=f&p=KLF17_HUMAN&rb=4&re=156&var=A65T	NA	getma.org/?cm=var&var=hg19,1,44595136,G,A&fts=all	A65T	--	--	1																																		KLF17_uc009vxf.1_Missense_Mutation_p.A28T	0,1,1	1		benign(0)	p.A65T	NM_173484	NP_775755		tolerated(1)	0,1,1	KLF17_HUMAN	KLF17	HGNC	Q5JT82	KLF17_HUMAN					2	251	+	Acute lymphoblastic leukemia(166;0.155)		UPI000013E95E	65					SNV	KLF17,missense_variant,p.Ala65Thr,ENST00000372299,NM_173484.3;KLF17,non_coding_transcript_exon_variant,,ENST00000476802,;	uc001clp.2	c.193G>A	251/3131	2	2			c.193G>A						1	SNP	c.(193-195)GCA>ACA	46	46			ovary(1)|skin(1)	2	Broad	zinc finger protein 393			44595136		0.557	ENSG00000171872	8203	g.chr1:44595136G>A	regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding							142.213903	KEEP	27	24	-1	34	28	27	24	-1	142.50921	34	28	0.443396	1	0	0	0	0	1	0	0	0	--	--		0	A			KLF17_uc009vxf.1_Missense_Mutation_p.A28T	119	GBM-12-0618-TP	p.A65T	G	TCCTCACAGCGCAGAGATGCT	NM_173484	NP_775755	44595136	Q5JT82	KLF17_HUMAN	0			2	251	+	A	A	Acute lymphoblastic leukemia(166;0.155)		Missense_Mutation	65						
KLF17	0	broad.mit.edu	GRCh37	1	44595024	44595024	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372299.3:c.82-1G>A		p.X28_splice	ENST00000372299	NM_173484.3			0			1			A		uc001clp.2	protein_coding	YES	CCDS508.1			82/1170									ovary(1)|skin(1)	2	c.e2-1				zinc finger protein 393				ENSP00000361373											COSM3400828,COSM3400827		.		ENST00000372299	Transcript			regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	ENSG00000171872	g.chr1:44595024G>A	18830			HIGH	3-Jan							--	--	1																																		KLF17_uc009vxf.1_Splice_Site	1,1	1			p.D28_splice	NM_173484	NP_775755			1,1	KLF17_HUMAN	KLF17	HGNC	Q5JT82	KLF17_HUMAN					2	140	+	Acute lymphoblastic leukemia(166;0.155)		UPI000013E95E						SNV	KLF17,splice_acceptor_variant,,ENST00000372299,NM_173484.3;KLF17,splice_acceptor_variant,,ENST00000476802,;	uc001clp.2	c.82_splice	-/3131	5	1			c.82_splice						1	SNP	c.e2-1	54	54			ovary(1)|skin(1)	2	Broad	zinc finger protein 393			44595024		0.483	ENSG00000171872	8203	g.chr1:44595024G>A	regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding							132.867188	KEEP	23	28	-1	53	40	23	28	-1	135.563252	53	40	0.344	1	0	0	0	0	0	0	0	1	--	--		0	A			KLF17_uc009vxf.1_Splice_Site	125	GBM-12-3649-TP	p.D28_splice	G	TTTTCCCCAAGGATAACGAGA	NM_173484	NP_775755	44595024	Q5JT82	KLF17_HUMAN	0			2	140	+	A	A	Acute lymphoblastic leukemia(166;0.155)		Splice_Site							
KLF17	0	broad.mit.edu	GRCh37	1	44595485	44595485	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01	TCGA-14-0813-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372299.3:c.542G>A	p.Gly181Asp	p.G181D	ENST00000372299	NM_173484.3	181	gGc/gAc	0			1			A	G/D	uc001clp.2	protein_coding	YES	CCDS508.1			542/1170									ovary(1)|skin(1)	2	c.(541-543)GGC>GAC			hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF5	zinc finger protein 393				ENSP00000361373		4-Feb									COSM2154699,COSM2154700	4-Feb	.		ENST00000372299	Transcript			regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	ENSG00000171872	g.chr1:44595485G>A	18830			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=KLF17_HUMAN&rb=157&re=298&var=G181D	NA	getma.org/?cm=var&var=hg19,1,44595485,G,A&fts=all	G181D	--	--	1																																		KLF17_uc009vxf.1_Missense_Mutation_p.G144D	1,1	1		benign(0.14)	p.G181D	NM_173484	NP_775755		tolerated(0.55)	1,1	KLF17_HUMAN	KLF17	HGNC	Q5JT82	KLF17_HUMAN					2	600	+	Acute lymphoblastic leukemia(166;0.155)		UPI000013E95E	181					SNV	KLF17,missense_variant,p.Gly181Asp,ENST00000372299,NM_173484.3;KLF17,intron_variant,,ENST00000476802,;	uc001clp.2	c.542G>A	600/3131	2	2			c.542G>A						1	SNP	c.(541-543)GGC>GAC	42	42			ovary(1)|skin(1)	2	Broad	zinc finger protein 393			44595485		0.597	ENSG00000171872	8203	g.chr1:44595485G>A	regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding							101.07032	KEEP	20	20	-1	32	37	20	20	-1	102.388913	32	37	0.375	1	0	0	0	0	1	0	0	0	--	--		0	A			KLF17_uc009vxf.1_Missense_Mutation_p.G144D	138	GBM-14-0813-TP	p.G181D	G	CCTTACCCTGGCCTCTCGACA	NM_173484	NP_775755	44595485	Q5JT82	KLF17_HUMAN	0			2	600	+	A	A	Acute lymphoblastic leukemia(166;0.155)		Missense_Mutation	181						
KLF17	0	broad.mit.edu	GRCh37	1	44584644	44584644	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01	TCGA-76-6192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372299.3:c.65C>T	p.Ala22Val	p.A22V	ENST00000372299	NM_173484.3	22	gCg/gTg	0			1			T	A/V	uc001clp.2	protein_coding	YES	CCDS508.1			65/1170									ovary(1)|skin(1)	2	c.(64-66)GCG>GTG			hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF5	zinc finger protein 393				ENSP00000361373		4-Jan									COSM3400826,COSM3400825	4-Jan	.		ENST00000372299	Transcript			regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	ENSG00000171872	g.chr1:44584644C>T	18830			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=KLF17_HUMAN&rb=4&re=156&var=A22V	NA	getma.org/?cm=var&var=hg19,1,44584644,C,T&fts=all	A22V	--	--	1																																		KLF17_uc009vxf.1_Intron	1,1	1		benign(0.007)	p.A22V	NM_173484	NP_775755		tolerated(0.26)	1,1	KLF17_HUMAN	KLF17	HGNC	Q5JT82	KLF17_HUMAN					1	123	+	Acute lymphoblastic leukemia(166;0.155)		UPI000013E95E	22					SNV	KLF17,missense_variant,p.Ala22Val,ENST00000372299,NM_173484.3;RN7SL479P,upstream_gene_variant,,ENST00000472003,;KLF17,non_coding_transcript_exon_variant,,ENST00000476802,;RP11-570P14.1,downstream_gene_variant,,ENST00000402743,;	uc001clp.2	c.65C>T	123/3131	1	1			c.65C>T						1	SNP	c.(64-66)GCG>GTG	4	4			ovary(1)|skin(1)	2	Broad	zinc finger protein 393			44584644		0.577	ENSG00000171872	8203	g.chr1:44584644C>T	regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding							7.018757	KEEP	3	1	-1	3	11	3	1	-1	8.073095	3	11	0.214286	1	0	0	0	0	1	0	0	0	--	--		0	T			KLF17_uc009vxf.1_Intron	275	GBM-76-6192-TP	p.A22V	C	TGGCAGGCGGCGCACCAGGCT	NM_173484	NP_775755	44584644	Q5JT82	KLF17_HUMAN	0			1	123	+	T	T	Acute lymphoblastic leukemia(166;0.155)		Missense_Mutation	22						
KLF4	0	broad.mit.edu	GRCh37	9	110249362	110249362	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01	TCGA-16-1045-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374672.4:c.1211G>A	p.Gly404Asp	p.G404D	ENST00000374672	NM_004235.4	404	gGc/gAc	0			1			T	G/D	uc004bdh.2	protein_coding	YES	CCDS6770.2			1211/1440									central_nervous_system(2)|lung(1)	3	c.(1285-1287)GGC>GAC			PROSITE_profiles:PS50157,hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF126,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355	Kruppel-like factor 4 (gut)				ENSP00000363804		5-Apr									COSM3413228	5-Apr	.		ENST00000374672	Transcript			fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	ENSG00000136826	g.chr9:110249362C>T	6348			MODERATE		2.06	medium	getma.org/?cm=msa&ty=f&p=KLF4_HUMAN&rb=392&re=445&var=G438D	getma.org/pdb.php?prot=KLF4_HUMAN&from=392&to=445&var=G438D	getma.org/?cm=var&var=hg19,9,110249362,C,T&fts=all	G438D	--	--	1																																		KLF4_uc004bdf.1_Missense_Mutation_p.G354D|KLF4_uc004bdg.2_Missense_Mutation_p.G404D	1	1		possibly_damaging(0.483)	p.G429D	NM_004235	NP_004226		deleterious(0)	1	KLF4_HUMAN	KLF4	HGNC	O43474	KLF4_HUMAN			Q5T3J6_HUMAN,L0R3V2_HUMAN,B7ZBT2_HUMAN,B7ZBT1_HUMAN		3	1907	-			UPI0000375189	438			C2H2-type 1.		SNV	KLF4,missense_variant,p.Gly404Asp,ENST00000374672,NM_004235.4;KLF4,downstream_gene_variant,,ENST00000420475,;KLF4,downstream_gene_variant,,ENST00000411706,;KLF4,non_coding_transcript_exon_variant,,ENST00000493306,;KLF4,non_coding_transcript_exon_variant,,ENST00000497048,;	uc004bdh.2	c.1286G>A	1685/2813	2	2			c.1286G>A						9	SNP	c.(1285-1287)GGC>GAC	25	25			central_nervous_system(2)|lung(1)	3	Broad	Kruppel-like factor 4 (gut)			110249362		0.602	ENSG00000136826	8205	g.chr9:110249362C>T	fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding							-63.456595	KEEP	1	4	-1	140	166	1	4	-1	7.58587	140	166	0.018382	1	0	0	0	0	1	0	0	0	--	--		0	T			KLF4_uc004bdf.1_Missense_Mutation_p.G354D|KLF4_uc004bdg.2_Missense_Mutation_p.G404D	157	GBM-16-1045-TP	p.G429D	C	GTAGGTTTTGCCGCAGCCCGC	NM_004235	NP_004226	110249362	O43474	KLF4_HUMAN	0			3	1907	-	T	T			Missense_Mutation	438			C2H2-type 1.			
KLF5	0	broad.mit.edu	GRCh37	13	73636601	73636601	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01	TCGA-28-5209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377687.4:c.864G>A	p.Met288Ile	p.M288I	ENST00000377687	NM_001730.3	288	atG/atA	0			1			A	M/I	uc001vje.2	protein_coding	YES	CCDS9448.1			864/1374									large_intestine(1)|ovary(1)|pancreas(1)	3	c.(862-864)ATG>ATA			hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF144	Kruppel-like factor 5				ENSP00000366915		4-Feb									COSM3399442	4-Feb	.		ENST00000377687	Transcript			transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	ENSG00000102554	g.chr13:73636601G>A	6349			MODERATE		0.35	neutral	getma.org/?cm=msa&ty=f&p=KLF5_HUMAN&rb=79&re=289&var=M288I	NA	getma.org/?cm=var&var=hg19,13,73636601,G,A&fts=all	M288I	--	--	1																																		KLF5_uc001vjd.2_Missense_Mutation_p.M197I	1	1		benign(0.38)	p.M288I	NM_001730	NP_001721		tolerated(0.45)	1	KLF5_HUMAN	KLF5	HGNC	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	Q5T6X2_HUMAN,B4DL96_HUMAN,A2TJX0_HUMAN		2	1188	+		Prostate(6;0.00187)|Breast(118;0.0735)	UPI0000000C89	288					SNV	KLF5,missense_variant,p.Met288Ile,ENST00000377687,NM_001730.3;KLF5,missense_variant,p.Met197Ile,ENST00000539231,NM_001286818.1;KLF5,non_coding_transcript_exon_variant,,ENST00000477333,;KLF5,non_coding_transcript_exon_variant,,ENST00000476859,;	uc001vje.2	c.864G>A	1400/3562	1	1			c.864G>A						13	SNP	c.(862-864)ATG>ATA	55	55			large_intestine(1)|ovary(1)|pancreas(1)	3	Broad	Kruppel-like factor 5			73636601		0.522	ENSG00000102554	8206	g.chr13:73636601G>A	transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding							183.565976	KEEP	37	35	-1	34	42	37	35	-1	183.626467	34	42	0.478261	1	0	0	0	0	1	0	0	0	--	--		0	A			KLF5_uc001vjd.2_Missense_Mutation_p.M197I	218	GBM-28-5209-TP	p.M288I	G	CATACACAATGCCAAGTCAGT	NM_001730	NP_001721	73636601	Q13887	KLF5_HUMAN	0		GBM - Glioblastoma multiforme(99;0.0011)	2	1188	+	A	A		Prostate(6;0.00187)|Breast(118;0.0735)	Missense_Mutation	288						
KLF8	11279	broad.mit.edu	GRCh37	X	56291902	56291902	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs143280924		TCGA-06-0241-01	TCGA-06-0241-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000468660.1:c.371C>A	p.Thr124Lys	p.T124K	ENST00000468660	NM_007250.4	124	aCg/aAg	0			1			A	T/K	uc004dur.2	protein_coding	YES	CCDS14373.1			371/1080									ovary(1)	1	c.(370-372)ACG>AAG			hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF150,Low_complexity_(Seg):seg	Kruppel-like factor 8 isoform 1				ENSP00000417303		6-Mar									COSM2151171	6-Mar	.		ENST00000468660	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000102349	g.chrX:56291902C>A	6351			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=KLF8_HUMAN&rb=52&re=198&var=T124K	NA	getma.org/?cm=var&var=hg19,X,56291902,C,A&fts=all	T124K	--	--	1																																		KLF8_uc010nkg.2_Missense_Mutation_p.T119K|KLF8_uc011mop.1_Missense_Mutation_p.T124K|KLF8_uc010nkh.2_RNA	1	1		possibly_damaging(0.524)	p.T124K	NM_007250	NP_009181		deleterious(0.01)	1	KLF8_HUMAN	KLF8	HGNC	O95600	KLF8_HUMAN					3	1317	+			UPI000012DED7	124					SNV	KLF8,missense_variant,p.Thr124Lys,ENST00000374928,NM_001159296.1;KLF8,missense_variant,p.Thr124Lys,ENST00000468660,NM_007250.4;KLF8,missense_variant,p.Thr124Lys,ENST00000358094,;KLF8,non_coding_transcript_exon_variant,,ENST00000462627,;KLF8,non_coding_transcript_exon_variant,,ENST00000476898,;	uc004dur.2	c.371C>A	659/1543	2	2			c.371C>A						23	SNP	c.(370-372)ACG>AAG	18	18			ovary(1)	1	Broad	Kruppel-like factor 8 isoform 1			56291902		0.542	ENSG00000102349	8209	g.chrX:56291902C>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							147.32395	KEEP	32	21	0.396226415	39	37	32	21	0.396226415	148.177704	39	37	0.40708	1	0	0	0	0	1	0	0	0	--	--		0	A			KLF8_uc010nkg.2_Missense_Mutation_p.T119K|KLF8_uc011mop.1_Missense_Mutation_p.T124K|KLF8_uc010nkh.2_RNA	57	GBM-06-0241-TP	p.T124K	C	GTGGTGTCCACGTCAACATCT	NM_007250	NP_009181	56291902	O95600	KLF8_HUMAN	0			3	1317	+	A	A			Missense_Mutation	124						
KLF9	0	broad.mit.edu	GRCh37	9	73002796	73002796	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5214-01	TCGA-28-5214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377126.2:c.631C>T	p.Arg211Cys	p.R211C	ENST00000377126	NM_001206.2	211	Cgc/Tgc	0			1			A	R/C	uc004aht.2	protein_coding	YES	CCDS6633.1			631/735										0	c.(631-633)CGC>TGC			PROSITE_profiles:PS50157,hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF131,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	Kruppel-like factor 9				ENSP00000366330		2-Feb									COSM3413699	2-Feb	.		ENST00000377126	Transcript			regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000119138	g.chr9:73002796G>A	1123			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=KLF9_HUMAN&rb=169&re=232&var=R211C	getma.org/pdb.php?prot=KLF9_HUMAN&from=189&to=212&var=R211C	getma.org/?cm=var&var=hg19,9,73002796,G,A&fts=all	R211C	--	--	1																																			1	1		benign(0.045)	p.R211C	NM_001206	NP_001197		deleterious(0.04)	1	KLF9_HUMAN	KLF9	HGNC	Q13886	KLF9_HUMAN					2	1925	-			UPI0000126B0A	211			C2H2-type 3.		SNV	KLF9,missense_variant,p.Arg211Cys,ENST00000377126,NM_001206.2;	uc004aht.2	c.631C>T	1892/5185	2	2			c.631C>T						9	SNP	c.(631-633)CGC>TGC	41	41				0	Broad	Kruppel-like factor 9			73002796		0.592	ENSG00000119138	8210	g.chr9:73002796G>A	regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							-29.238957	KEEP	3	2	-1	74	100	3	2	-1	8.665363	74	100	0.031646	1	0	0	0	0	1	0	0	0	--	--		0	A				221	GBM-28-5214-TP	p.R211C	G	CTCATGAAGCGCTTCTCACAC	NM_001206	NP_001197	73002796	Q13886	KLF9_HUMAN	0			2	1925	-	A	A			Missense_Mutation	211			C2H2-type 3.			
KLHDC7A	127707	broad.mit.edu	GRCh37	1	18809465	18809465	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0188-01	TCGA-06-0188-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400664.1:c.1990G>A	p.Gly664Ser	p.G664S	ENST00000400664	NM_152375.2	664	Ggc/Agc	0			1			A	G/S	uc001bax.2	protein_coding	YES	CCDS185.2			1990/2334									ovary(2)|upper_aerodigestive_tract(1)	3	c.(1990-1992)GGC>AGC			Superfamily_domains:0052715,Gene3D:1zgkA00,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF144	kelch domain containing 7A				ENSP00000383505		1-Jan									COSM2150572	1-Jan	.		ENST00000400664	Transcript				integral to membrane		ENSG00000179023	g.chr1:18809465G>A	26791			MODERATE		1.23	low	getma.org/?cm=msa&ty=f&p=KLD7A_HUMAN&rb=620&re=777&var=G664S	NA	getma.org/?cm=var&var=hg19,1,18809465,G,A&fts=all	G664S	--	--	1																																		KLHDC7A_uc009vpg.2_Missense_Mutation_p.G446S	1	1		probably_damaging(0.959)	p.G664S	NM_152375	NP_689588		deleterious(0.02)	1	KLD7A_HUMAN	KLHDC7A	HGNC	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	A4FU39_HUMAN		1	2042	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	UPI0000E0501F	664			Kelch 5.		SNV	KLHDC7A,missense_variant,p.Gly664Ser,ENST00000400664,NM_152375.2;	uc001bax.2	c.1990G>A	2042/5055	1	1			c.1990G>A						1	SNP	c.(1990-1992)GGC>AGC	57	57			ovary(2)|upper_aerodigestive_tract(1)	3	Broad	kelch domain containing 7A			18809465		0.682	ENSG00000179023	8217	g.chr1:18809465G>A		integral to membrane								21.996337	KEEP	3	9	-1	20	29	3	9	-1	26.199438	20	29	0.207547	1	0	0	0	0	1	0	0	0	--	--		0	A			KLHDC7A_uc009vpg.2_Missense_Mutation_p.G446S	41	GBM-06-0188-TP	p.G664S	G	CCCCACCGGGGGCAGCAAGGA	NM_152375	NP_689588	18809465	Q5VTJ3	KLD7A_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	2042	+	A	A		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	664			Kelch 5.			
KLHDC7A	0	broad.mit.edu	GRCh37	1	18808936	18808936	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400664.1:c.1461G>A	p.Arg487=	p.R487=	ENST00000400664	NM_152375.2	487	cgG/cgA	0			1			A	R	uc001bax.2	protein_coding	YES	CCDS185.2			1461/2334									ovary(2)|upper_aerodigestive_tract(1)	3	c.(1459-1461)CGG>CGA			hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF144	kelch domain containing 7A				ENSP00000383505		1-Jan									COSM3400123	1-Jan	.		ENST00000400664	Transcript				integral to membrane		ENSG00000179023	g.chr1:18808936G>A	26791			LOW								--	--	1																																		KLHDC7A_uc009vpg.2_Silent_p.R269R	1	1			p.R487R	NM_152375	NP_689588			1	KLD7A_HUMAN	KLHDC7A	HGNC	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	A4FU39_HUMAN		1	1513	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	UPI0000E0501F	487					SNV	KLHDC7A,synonymous_variant,p.=,ENST00000400664,NM_152375.2;	uc001bax.2	c.1461G>A	1513/5055	2	2			c.1461G>A						1	SNP	c.(1459-1461)CGG>CGA	23	23			ovary(2)|upper_aerodigestive_tract(1)	3	Broad	kelch domain containing 7A			18808936		0.662	ENSG00000179023	8217	g.chr1:18808936G>A		integral to membrane								85.430325	KEEP	22	19	-1	42	65	22	19	-1	88.934201	42	65	0.308411	1	0	0	0	0	0	0	1	0	--	--		0	A			KLHDC7A_uc009vpg.2_Silent_p.R269R	220	GBM-28-5213-TP	p.R487R	G	TGCAGCGCCGGCTCCGGGGCC	NM_152375	NP_689588	18808936	Q5VTJ3	KLD7A_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	1513	+	A	A		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	Silent	487						
KLHDC7A	127707		GRCh37	1	18809060	18809060	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000400664.1:c.1585G>A	p.Val529Met	p.V529M	ENST00000400664	NM_152375.2	529	Gtg/Atg	0																																																																																																																																																																																																																																												
KLHDC8A	0	broad.mit.edu	GRCh37	1	205312607	205312607	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-1829-01	TCGA-14-1829-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367155.3:c.126C>T	p.Asn42=	p.N42=	ENST00000367155	NM_018203.2	42	aaC/aaT	0			1			A	N	uc001hcf.1	protein_coding		CCDS30985.1			126/1053									ovary(1)	1	c.(124-126)AAC>AAT			Superfamily_domains:0052715,Gene3D:1zgkA00,Pfam_domain:PF01344,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF123,SMART_domains:SM00612	kelch domain containing 8A				ENSP00000356123		6-Feb									COSM3400231	6-Feb	.		ENST00000367155	Transcript						ENSG00000162873	g.chr1:205312607G>A	25573			LOW								--	--	1																																		KLHDC8A_uc010prg.1_Intron|KLHDC8A_uc001hcg.1_Silent_p.N42N	1				p.N42N	NM_018203	NP_060673			1	KLD8A_HUMAN	KLHDC8A	HGNC	Q8IYD2	KLD8A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		U3KQK4_HUMAN,U3KQI4_HUMAN,U3KQH1_HUMAN,U3KQC2_HUMAN,U3KPX9_HUMAN,U3KPW1_HUMAN		2	694	-	Breast(84;0.23)		UPI00000728EF	42			Kelch 2.		SNV	KLHDC8A,synonymous_variant,p.=,ENST00000367156,NM_001271863.1,NM_001271865.1;KLHDC8A,synonymous_variant,p.=,ENST00000367155,NM_018203.2,NM_001271864.1;KLHDC8A,synonymous_variant,p.=,ENST00000539253,;KLHDC8A,synonymous_variant,p.=,ENST00000491471,;KLHDC8A,synonymous_variant,p.=,ENST00000607173,;KLHDC8A,5_prime_UTR_variant,,ENST00000607826,;KLHDC8A,intron_variant,,ENST00000537168,;KLHDC8A,intron_variant,,ENST00000460687,;KLHDC8A,upstream_gene_variant,,ENST00000606181,;KLHDC8A,downstream_gene_variant,,ENST00000606887,;KLHDC8A,downstream_gene_variant,,ENST00000606529,;KLHDC8A,downstream_gene_variant,,ENST00000607193,;KLHDC8A,downstream_gene_variant,,ENST00000606111,;	uc001hcf.1	c.126C>T	694/2928	2	2			c.126C>T						1	SNP	c.(124-126)AAC>AAT	41	41			ovary(1)	1	Broad	kelch domain containing 8A			205312607		0.716	ENSG00000162873	8219	g.chr1:205312607G>A										37.470593	KEEP	8	9	-1	26	25	8	9	-1	40.932165	26	25	0.253968	1	0	0	0	0	0	0	1	0	--	--		0	A			KLHDC8A_uc010prg.1_Intron|KLHDC8A_uc001hcg.1_Silent_p.N42N	149	GBM-14-1829-TP	p.N42N	G	TGGGGACGCCGTTGTCGTCAC	NM_018203	NP_060673	205312607	Q8IYD2	KLD8A_HUMAN	0	BRCA - Breast invasive adenocarcinoma(75;0.117)		2	694	-	A	A	Breast(84;0.23)		Silent	42			Kelch 2.			
KLHDC9	0	broad.mit.edu	GRCh37	1	161068632	161068632	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01	TCGA-27-1831-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368011.4:c.307C>T	p.Arg103Cys	p.R103C	ENST00000368011	NM_152366.4	103	Cgc/Tgc	0			1			T	R/C	uc001fxr.2	protein_coding	YES	CCDS30919.1			307/1050										0	c.(307-309)CGC>TGC			Superfamily_domains:0047741,Gene3D:1zgkA00,Pfam_domain:PF13415,hmmpanther:PTHR23244,hmmpanther:PTHR23244:SF272	kelch/ankyrin repeat containing cyclin A1				ENSP00000356990		4-Jan									COSM3399910,COSM3399909	4-Jan	.		ENST00000368011	Transcript						ENSG00000162755	g.chr1:161068632C>T	28489			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=KLDC9_HUMAN&rb=89&re=140&var=R103C	NA	getma.org/?cm=var&var=hg19,1,161068632,C,T&fts=all	R103C	--	--	1																																		KLHDC9_uc001fxq.2_5'UTR|KLHDC9_uc001fxs.2_Missense_Mutation_p.R103C	1,1	1		probably_damaging(1)	p.R103C	NM_152366	NP_689579		deleterious(0)	1,1	KLDC9_HUMAN	KLHDC9	HGNC	Q8NEP7	KLDC9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		D3DVF3_HUMAN		1	479	+	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		UPI0000420905	103			Kelch 2.		SNV	KLHDC9,missense_variant,p.Arg103Cys,ENST00000392192,NM_001007255.2;KLHDC9,missense_variant,p.Arg103Cys,ENST00000368011,NM_152366.4;PFDN2,downstream_gene_variant,,ENST00000368010,NM_012394.3;KLHDC9,non_coding_transcript_exon_variant,,ENST00000490724,;KLHDC9,non_coding_transcript_exon_variant,,ENST00000469647,;KLHDC9,non_coding_transcript_exon_variant,,ENST00000392191,;KLHDC9,non_coding_transcript_exon_variant,,ENST00000494418,;PFDN2,downstream_gene_variant,,ENST00000468311,;KLHDC9,non_coding_transcript_exon_variant,,ENST00000471613,;KLHDC9,upstream_gene_variant,,ENST00000475934,;	uc001fxr.2	c.307C>T	449/1314	1	1			c.307C>T						1	SNP	c.(307-309)CGC>TGC	2	2				0	Broad	kelch/ankyrin repeat containing cyclin A1			161068632		0.726	ENSG00000162755	8221	g.chr1:161068632C>T										6.550215	KEEP	1	1	-1	3	0	1	1	-1	6.550213	3	0	0.5	1	0	0	0	0	1	0	0	0	--	--		0	T			KLHDC9_uc001fxq.2_5'UTR|KLHDC9_uc001fxs.2_Missense_Mutation_p.R103C	190	GBM-27-1831-TP	p.R103C	C	CGGGTCTCGCCGCTTGGCCAC	NM_152366	NP_689579	161068632	Q8NEP7	KLDC9_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.00165)		1	479	+	T	T	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		Missense_Mutation	103			Kelch 2.			
KLHL1	0	broad.mit.edu	GRCh37	13	70535514	70535514	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01	TCGA-27-2527-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377844.4:c.743C>T	p.Ala248Val	p.A248V	ENST00000377844	NM_020866.2	248	gCc/gTc	0			1			A	A/V	uc001vip.2	protein_coding	YES	CCDS9445.1			743/2247										0	c.(742-744)GCC>GTC			Gene3D:3.30.710.10,Pfam_domain:PF00651,PROSITE_profiles:PS50097,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF75,SMART_domains:SM00225,Superfamily_domains:SSF54695	kelch-like 1 protein				ENSP00000367075		11-Mar									COSM3399435	11-Mar	.		ENST00000377844	Transcript			actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	ENSG00000150361	g.chr13:70535514G>A	6352			MODERATE		2.18	medium	getma.org/?cm=msa&ty=f&p=KLHL1_HUMAN&rb=202&re=309&var=A248V	getma.org/pdb.php?prot=KLHL1_HUMAN&from=202&to=309&var=A248V	getma.org/?cm=var&var=hg19,13,70535514,G,A&fts=all	A248V	--	--	1																																		KLHL1_uc010thm.1_Missense_Mutation_p.A187V	1	1		probably_damaging(0.986)	p.A248V	NM_020866	NP_065917		deleterious(0)	1	KLHL1_HUMAN	KLHL1	HGNC	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	Q96RF4_HUMAN		3	1537	-		Breast(118;0.000162)	UPI000004B136	248			BTB.		SNV	KLHL1,missense_variant,p.Ala248Val,ENST00000377844,NM_020866.2;KLHL1,missense_variant,p.Ala55Val,ENST00000545028,;	uc001vip.2	c.743C>T	1503/4115	2	2			c.743C>T						13	SNP	c.(742-744)GCC>GTC	21	21				0	Broad	kelch-like 1 protein			70535514		0.413	ENSG00000150361	8222	g.chr13:70535514G>A	actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding							45.824857	KEEP	14	13	-1	62	72	14	13	-1	62.036437	62	72	0.164474	1	0	0	0	0	1	0	0	0	--	--		0	A			KLHL1_uc010thm.1_Missense_Mutation_p.A187V	204	GBM-27-2527-TP	p.A248V	G	CTCTTGCTTGGCTTCACAAAC	NM_020866	NP_065917	70535514	Q9NR64	KLHL1_HUMAN	0		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	3	1537	-	A	A		Breast(118;0.000162)	Missense_Mutation	248			BTB.			
KLHL1	0	broad.mit.edu	GRCh37	13	70314591	70314591	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-32-2615-01	TCGA-32-2615-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377844.4:c.1737A>G	p.Gln579=	p.Q579=	ENST00000377844	NM_020866.2	579	caA/caG	0			1			C	Q	uc001vip.2	protein_coding	YES	CCDS9445.1			1737/2247										0	c.(1735-1737)CAA>CAG			Superfamily_domains:0052715,Gene3D:1k3iA02,Pfam_domain:PF01344,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF75,SMART_domains:SM00612	kelch-like 1 protein				ENSP00000367075		11-Aug	8.24E-06							6.06E-05	rs752886574,COSM3399434	11-Aug	.		ENST00000377844	Transcript			actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	ENSG00000150361	g.chr13:70314591T>C	6352			LOW								--	--	1																																		KLHL1_uc010thm.1_Silent_p.Q518Q	0,1	1			p.Q579Q	NM_020866	NP_065917			0,1	KLHL1_HUMAN	KLHL1	HGNC	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	Q96RF4_HUMAN		8	2531	-		Breast(118;0.000162)	UPI000004B136	579			Kelch 3.		SNV	KLHL1,synonymous_variant,p.=,ENST00000377844,NM_020866.2;KLHL1,synonymous_variant,p.=,ENST00000545028,;	uc001vip.2	c.1737A>G	2497/4115	3	3			c.1737A>G						13	SNP	c.(1735-1737)CAA>CAG	61	61				0	Broad	kelch-like 1 protein			70314591		0.413	ENSG00000150361	8222	g.chr13:70314591T>C	actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding							124.131362	KEEP	21	23	-1	31	36	21	23	-1	124.860737	31	36	0.40625	1	0	0	0	0	0	0	1	0	--	--		0	C			KLHL1_uc010thm.1_Silent_p.Q518Q	239	GBM-32-2615-TP	p.Q579Q	T	CAAATGTCCATTGTTGACTCT	NM_020866	NP_065917	70314591	Q9NR64	KLHL1_HUMAN	0		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	8	2531	-	C	C		Breast(118;0.000162)	Silent	579			Kelch 3.			
KLHL12	59349	broad.mit.edu	GRCh37	1	202862387	202862387	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-06-5859-01	TCGA-06-5859-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367261.3:c.1560del	p.Arg521AspfsTer14	p.R521Dfs*14	ENST00000367261	NM_021633.2	520	ggG/gg	0			1			-	G/X	uc001gyo.1	protein_coding	YES	CCDS1429.1			1560/1707										0	c.(1558-1560)GGGfs			Gene3D:1k3iA02,Pfam_domain:PF01344,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,SMART_domains:SM00612	kelch-like 12				ENSP00000356230		12-Nov									COSM2153391	12-Nov	.		ENST00000367261	Transcript			Wnt receptor signaling pathway		protein binding	ENSG00000117153	g.chr1:202862387delC	19360			HIGH								--	--	1																																		KLHL12_uc001gym.1_Intron|KLHL12_uc001gyn.1_Intron|KLHL12_uc010pqc.1_Frame_Shift_Del_p.G558fs|KLHL12_uc009xah.1_Frame_Shift_Del_p.G419fs	1	1			p.G520fs	NM_021633	NP_067646			1	KLH12_HUMAN	KLHL12	HGNC	Q53G59	KLH12_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)				11	1760	-			UPI000006EE6A	520			Interaction with DVL3.|Kelch 5.		deletion	KLHL12,frameshift_variant,p.Arg521AspfsTer14,ENST00000367261,NM_021633.2;KLHL12,frameshift_variant,p.Arg559AspfsTer14,ENST00000435533,;KLHL12,intron_variant,,ENST00000367259,;RABIF,upstream_gene_variant,,ENST00000367262,NM_002871.4;	uc001gyo.1	c.1560delG	1779/3359	5	5			c.1560delG						1	DEL	c.(1558-1560)GGGfs	32	32				0	Broad	kelch-like 12			202862387		0.468	ENSG00000117153	8225	g.chr1:202862387delC	Wnt receptor signaling pathway		protein binding																				0.37	1	1	0	1	0	0	0	0	0	--	--		0	-			KLHL12_uc001gym.1_Intron|KLHL12_uc001gyn.1_Intron|KLHL12_uc010pqc.1_Frame_Shift_Del_p.G558fs|KLHL12_uc009xah.1_Frame_Shift_Del_p.G419fs	103	GBM-06-5859-TP	p.G520fs	C	CATAGAGTCTCCCCCGAAGCA	NM_021633	NP_067646	202862387	Q53G59	KLH12_HUMAN	0	BRCA - Breast invasive adenocarcinoma(75;0.166)		11	1760	-	-	-			Frame_Shift_Del	520			Interaction with DVL3.|Kelch 5.			
KLHL13	90293	broad.mit.edu	GRCh37	X	117033178	117033178	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0122-01	TCGA-06-0122-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000539496.1:c.1670T>A	p.Val557Asp	p.V557D	ENST00000539496	NM_001168299.1	557	gTc/gAc	0			1			T	V/D	uc004eql.2	protein_coding		CCDS14571.1			1661/1968									kidney(1)|skin(1)	2	c.(1660-1662)GTC>GAC			Superfamily_domains:0052715,Gene3D:1k3iA02,Pfam_domain:PF01344,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF68,SMART_domains:SM00612	kelch-like 13				ENSP00000262820		7-Jul									COSM2149252	7-Jul	.		ENST00000262820	Transcript			cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		ENSG00000003096	g.chrX:117033178A>T	22931			MODERATE		3.06	medium	getma.org/?cm=msa&ty=f&p=KLH13_HUMAN&rb=525&re=574&var=V554D	NA	getma.org/?cm=var&var=hg19,X,117033178,A,T&fts=all	V554D	--	--	1																																		KLHL13_uc004eqk.2_Missense_Mutation_p.V503D|KLHL13_uc011mtn.1_Missense_Mutation_p.V394D|KLHL13_uc011mto.1_Missense_Mutation_p.V548D|KLHL13_uc011mtp.1_Missense_Mutation_p.V556D|KLHL13_uc004eqm.2_Missense_Mutation_p.V503D|KLHL13_uc011mtq.1_Missense_Mutation_p.V538D	1			probably_damaging(0.997)	p.V554D	NM_033495	NP_277030		deleterious(0)	1	KLH13_HUMAN	KLHL13	HGNC	Q9P2N7	KLH13_HUMAN			Q96HC9_HUMAN,C9JTS9_HUMAN		7	1723	-			UPI0000211DF0	554			Kelch 5.		SNV	KLHL13,missense_variant,p.Val503Asp,ENST00000371876,;KLHL13,missense_variant,p.Val554Asp,ENST00000262820,NM_033495.3;KLHL13,missense_variant,p.Val503Asp,ENST00000447671,;KLHL13,missense_variant,p.Val538Asp,ENST00000540167,NM_001168302.1;KLHL13,missense_variant,p.Val512Asp,ENST00000545703,NM_001168303.1;KLHL13,missense_variant,p.Val503Asp,ENST00000371882,;KLHL13,missense_variant,p.Val503Asp,ENST00000371878,NM_001168300.1;KLHL13,missense_variant,p.Val538Asp,ENST00000541812,NM_001168301.1;KLHL13,missense_variant,p.Val557Asp,ENST00000539496,NM_001168299.1;KLHL13,missense_variant,p.Val503Asp,ENST00000469946,;	uc004eql.2	c.1661T>A	2571/3972	2	2			c.1661T>A						23	SNP	c.(1660-1662)GTC>GAC	29	29			kidney(1)|skin(1)	2	Broad	kelch-like 13			117033178		0.463	ENSG00000003096	8226	g.chrX:117033178A>T	cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex								337.420688	KEEP	80	58	-1	133	104	80	58	-1	343.899825	133	104	0.354467	1	0	0	0	0	1	0	0	0	--	--		0	T			KLHL13_uc004eqk.2_Missense_Mutation_p.V503D|KLHL13_uc011mtn.1_Missense_Mutation_p.V394D|KLHL13_uc011mto.1_Missense_Mutation_p.V548D|KLHL13_uc011mtp.1_Missense_Mutation_p.V556D|KLHL13_uc004eqm.2_Missense_Mutation_p.V503D|KLHL13_uc011mtq.1_Missense_Mutation_p.V538D	10	GBM-06-0122-TP	p.V554D	A	ACAGCTTAGGACATCATCATA	NM_033495	NP_277030	117033178	Q9P2N7	KLH13_HUMAN	0			7	1723	-	T	T			Missense_Mutation	554			Kelch 5.			
KLHL13	90293	broad.mit.edu	GRCh37	X	117054239	117054239	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0878-01	TCGA-06-0878-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000539496.1:c.344T>A	p.Met115Lys	p.M115K	ENST00000539496	NM_001168299.1	115	aTg/aAg	0			1			T	M/K	uc004eql.2	protein_coding		CCDS14571.1			335/1968									kidney(1)|skin(1)	2	c.(334-336)ATG>AAG			Gene3D:3.30.710.10,Pfam_domain:PF00651,PIRSF_domain:PIRSF037037,PROSITE_profiles:PS50097,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF68,SMART_domains:SM00225,Superfamily_domains:SSF54695	kelch-like 13				ENSP00000262820		7-Mar									COSM2152227	7-Mar	.		ENST00000262820	Transcript			cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		ENSG00000003096	g.chrX:117054239A>T	22931			MODERATE		2.095	medium	getma.org/?cm=msa&ty=f&p=KLH13_HUMAN&rb=82&re=190&var=M112K	getma.org/pdb.php?prot=KLH13_HUMAN&from=82&to=190&var=M112K	getma.org/?cm=var&var=hg19,X,117054239,A,T&fts=all	M112K	--	--	1																																		KLHL13_uc004eqk.2_Missense_Mutation_p.M61K|KLHL13_uc011mtn.1_5'UTR|KLHL13_uc011mto.1_Missense_Mutation_p.M106K|KLHL13_uc011mtp.1_Missense_Mutation_p.M114K|KLHL13_uc004eqm.2_Missense_Mutation_p.M61K|KLHL13_uc011mtq.1_Missense_Mutation_p.M96K	1			possibly_damaging(0.613)	p.M112K	NM_033495	NP_277030		deleterious(0)	1	KLH13_HUMAN	KLHL13	HGNC	Q9P2N7	KLH13_HUMAN			Q96HC9_HUMAN,C9JTS9_HUMAN		3	397	-			UPI0000211DF0	112			BTB.		SNV	KLHL13,missense_variant,p.Met61Lys,ENST00000371876,;KLHL13,missense_variant,p.Met112Lys,ENST00000262820,NM_033495.3;KLHL13,missense_variant,p.Met61Lys,ENST00000447671,;KLHL13,missense_variant,p.Met96Lys,ENST00000540167,NM_001168302.1;KLHL13,missense_variant,p.Met70Lys,ENST00000545703,NM_001168303.1;KLHL13,missense_variant,p.Met61Lys,ENST00000371882,;KLHL13,missense_variant,p.Met61Lys,ENST00000371878,NM_001168300.1;KLHL13,missense_variant,p.Met96Lys,ENST00000541812,NM_001168301.1;KLHL13,missense_variant,p.Met115Lys,ENST00000539496,NM_001168299.1;KLHL13,missense_variant,p.Met61Lys,ENST00000469946,;KLHL13,downstream_gene_variant,,ENST00000453826,;	uc004eql.2	c.335T>A	1245/3972	1	1			c.335T>A						23	SNP	c.(334-336)ATG>AAG	1	1			kidney(1)|skin(1)	2	Broad	kelch-like 13			117054239		0.408	ENSG00000003096	8226	g.chrX:117054239A>T	cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex								133.778545	KEEP	30	23	-1	66	59	30	23	-1	140.262687	66	59	0.2875	1	0	0	0	0	1	0	0	0	--	--		0	T			KLHL13_uc004eqk.2_Missense_Mutation_p.M61K|KLHL13_uc011mtn.1_5'UTR|KLHL13_uc011mto.1_Missense_Mutation_p.M106K|KLHL13_uc011mtp.1_Missense_Mutation_p.M114K|KLHL13_uc004eqm.2_Missense_Mutation_p.M61K|KLHL13_uc011mtq.1_Missense_Mutation_p.M96K	74	GBM-06-0878-TP	p.M112K	A	AGCAGATGCCATCATGACTCT	NM_033495	NP_277030	117054239	Q9P2N7	KLH13_HUMAN	0			3	397	-	T	T			Missense_Mutation	112			BTB.			
KLHL13	0	broad.mit.edu	GRCh37	X	117043525	117043525	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-19-5950-01	TCGA-19-5950-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262820.3:c.1105T>A	p.Trp369Arg	p.W369R	ENST00000262820	NM_033495.3	369	Tgg/Agg	0			1			T	W/R	uc004eql.2	protein_coding		CCDS14571.1			1105/1968									kidney(1)|skin(1)	2	c.(1105-1107)TGG>AGG			Superfamily_domains:0052715,Gene3D:1k3iA02,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF68,SMART_domains:SM00612	kelch-like 13				ENSP00000262820		7-May									COSM3405867	7-May	.		ENST00000262820	Transcript			cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		ENSG00000003096	g.chrX:117043525A>T	22931			MODERATE		3.07	medium	getma.org/?cm=msa&ty=f&p=KLH13_HUMAN&rb=298&re=377&var=W369R	NA	getma.org/?cm=var&var=hg19,X,117043525,A,T&fts=all	W369R	--	--	1																																		KLHL13_uc004eqk.2_Missense_Mutation_p.W318R|KLHL13_uc011mtn.1_Missense_Mutation_p.W209R|KLHL13_uc011mto.1_Missense_Mutation_p.W363R|KLHL13_uc011mtp.1_Missense_Mutation_p.W371R|KLHL13_uc004eqm.2_Missense_Mutation_p.W318R|KLHL13_uc011mtq.1_Missense_Mutation_p.W353R	1			probably_damaging(0.979)	p.W369R	NM_033495	NP_277030		deleterious(0)	1	KLH13_HUMAN	KLHL13	HGNC	Q9P2N7	KLH13_HUMAN			Q96HC9_HUMAN,C9JTS9_HUMAN		5	1167	-			UPI0000211DF0	369			Kelch 1.		SNV	KLHL13,missense_variant,p.Trp318Arg,ENST00000371876,;KLHL13,missense_variant,p.Trp369Arg,ENST00000262820,NM_033495.3;KLHL13,missense_variant,p.Trp318Arg,ENST00000447671,;KLHL13,missense_variant,p.Trp353Arg,ENST00000540167,NM_001168302.1;KLHL13,missense_variant,p.Trp327Arg,ENST00000545703,NM_001168303.1;KLHL13,missense_variant,p.Trp318Arg,ENST00000371882,;KLHL13,missense_variant,p.Trp318Arg,ENST00000371878,NM_001168300.1;KLHL13,missense_variant,p.Trp353Arg,ENST00000541812,NM_001168301.1;KLHL13,missense_variant,p.Trp372Arg,ENST00000539496,NM_001168299.1;KLHL13,missense_variant,p.Trp318Arg,ENST00000469946,;Y_RNA,downstream_gene_variant,,ENST00000363421,;	uc004eql.2	c.1105T>A	2015/3972	2	2			c.1105T>A						23	SNP	c.(1105-1107)TGG>AGG	22	22			kidney(1)|skin(1)	2	Broad	kelch-like 13			117043525		0.493	ENSG00000003096	8226	g.chrX:117043525A>T	cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex								51.761881	KEEP	13	14	-1	58	53	13	14	-1	63.464229	58	53	0.184	1	0	0	0	0	1	0	0	0	--	--		0	T			KLHL13_uc004eqk.2_Missense_Mutation_p.W318R|KLHL13_uc011mtn.1_Missense_Mutation_p.W209R|KLHL13_uc011mto.1_Missense_Mutation_p.W363R|KLHL13_uc011mtp.1_Missense_Mutation_p.W371R|KLHL13_uc004eqm.2_Missense_Mutation_p.W318R|KLHL13_uc011mtq.1_Missense_Mutation_p.W353R	170	GBM-19-5950-TP	p.W369R	A	AACGATTTCCACTCATGGGCC	NM_033495	NP_277030	117043525	Q9P2N7	KLH13_HUMAN	0			5	1167	-	T	T			Missense_Mutation	369			Kelch 1.			
KLHL15	80311	broad.mit.edu	GRCh37	X	24006559	24006559	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0216-01	TCGA-06-0216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328046.8:c.1294G>A	p.Gly432Ser	p.G432S	ENST00000328046	NM_030624.2	432	Ggt/Agt	0			1			T	G/S	uc004dba.3	protein_coding	YES	CCDS35217.1			1294/1815									ovary(1)|breast(1)	2	c.(1294-1296)GGT>AGT			Low_complexity_(Seg):seg,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF61,Gene3D:1zgkA00,SMART_domains:SM00612,PIRSF_domain:PIRSF037037,Superfamily_domains:0052715	kelch-like 15				ENSP00000332791		4-Apr									COSM3406239	4-Apr	.		ENST00000328046	Transcript						ENSG00000174010	g.chrX:24006559C>T	29347			MODERATE		3.145	medium	getma.org/?cm=msa&ty=f&p=KLH15_HUMAN&rb=412&re=476&var=G432S	NA	getma.org/?cm=var&var=hg19,X,24006559,C,T&fts=all	G432S	--	--	1																																			1	1		probably_damaging(0.999)	p.G432S	NM_030624	NP_085127		deleterious(0)	1	KLH15_HUMAN	KLHL15	HGNC	Q96M94	KLH15_HUMAN					4	1550	-			UPI000019832F	432			Kelch 3.		SNV	KLHL15,missense_variant,p.Gly432Ser,ENST00000328046,NM_030624.2;	uc004dba.3	c.1294G>A	1550/6272	1	1			c.1294G>A						23	SNP	c.(1294-1296)GGT>AGT	5	5			ovary(1)|breast(1)	2	Broad	kelch-like 15			24006559		0.443	ENSG00000174010	8228	g.chrX:24006559C>T										-21.598605	KEEP	7	4	-1	131	78	7	4	-1	22.279379	131	78	0.052885	1	0	0	0	0	1	0	0	0	--	--		0	T				51	GBM-06-0216-TP	p.G432S	C	GTGATTCCACCGGTGATAAAC	NM_030624	NP_085127	24006559	Q96M94	KLH15_HUMAN	0			4	1550	-	T	T			Missense_Mutation	432			Kelch 3.			
KLHL26	55295	broad.mit.edu	GRCh37	19	18779533	18779533	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0122-01	TCGA-06-0122-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300976.4:c.1326C>T	p.Tyr442=	p.Y442=	ENST00000300976	NM_018316.1	442	taC/taT	0			1			T	Y	uc002njz.1	protein_coding	YES	CCDS12384.1			1326/1848									ovary(1)	1	c.(1324-1326)TAC>TAT			hmmpanther:PTHR24412:SF56,hmmpanther:PTHR24412,Gene3D:1k3iA02,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Superfamily_domains:0052715	kelch-like 26				ENSP00000300976		3-Mar	1.67E-05							0.000183	rs778305650,COSM3403966	3-Mar	.		ENST00000300976	Transcript						ENSG00000167487	g.chr19:18779533C>T	25623			LOW								--	--	1																																			0,1	1			p.Y442Y	NM_018316	NP_060786			0,1	KLH26_HUMAN	KLHL26	HGNC	Q53HC5	KLH26_HUMAN					3	1353	+			UPI0000071AC2	442			Kelch 3.		SNV	KLHL26,synonymous_variant,p.=,ENST00000300976,NM_018316.1;KLHL26,intron_variant,,ENST00000599006,;KLHL26,downstream_gene_variant,,ENST00000595423,;KLHL26,downstream_gene_variant,,ENST00000595182,;KLHL26,downstream_gene_variant,,ENST00000596843,;KLHL26,downstream_gene_variant,,ENST00000600657,;	uc002njz.1	c.1326C>T	1416/3192	2	2			c.1326C>T						19	SNP	c.(1324-1326)TAC>TAT	26	26			ovary(1)	1	Broad	kelch-like 26			18779533		0.701	ENSG00000167487	8238	g.chr19:18779533C>T										14.605381	KEEP	5	2	-1	22	7	5	2	-1	17.135312	22	7	0.212121	1	0	0	0	0	0	0	1	0	--	--		0	T				10	GBM-06-0122-TP	p.Y442Y	C	AGTGGGGCTACGCCTGCTCGC	NM_018316	NP_060786	18779533	Q53HC5	KLH26_HUMAN	0			3	1353	+	T	T			Silent	442			Kelch 3.			
KLHL3	26249		GRCh37	5	137045486	137045486	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000309755.4:c.194G>A	p.Arg65His	p.R65H	ENST00000309755	NM_017415.2	65	cGt/cAt	0																																																																																																																																																																																																																																												
KLHL30	0	broad.mit.edu	GRCh37	2	239049594	239049594	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01	TCGA-32-4719-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409223.1:c.199G>A	p.Ala67Thr	p.A67T	ENST00000409223		67	Gcc/Acc	0	A:0		1			A	A/T	uc002vxr.1	protein_coding	YES	CCDS46555.2			199/1737										0	c.(145-147)GCC>ACC			Gene3D:3.30.710.10,Pfam_domain:PF00651,PIRSF_domain:PIRSF037037,PROSITE_profiles:PS50097,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF9,SMART_domains:SM00225,Superfamily_domains:SSF54695	kelch-like 30			A:0.0001	ENSP00000386389		8-Feb	8.26E-06					1.53E-05			rs372812743,COSM3407730,COSM3407729	8-Feb	.		ENST00000409223	Transcript						ENSG00000168427	g.chr2:239049594G>A	24770			MODERATE		1.265	low	getma.org/?cm=msa&ty=f&p=KLH30_HUMAN&rb=23&re=130&var=A67T	getma.org/pdb.php?prot=KLH30_HUMAN&from=23&to=130&var=A67T	getma.org/?cm=var&var=hg19,2,239049594,G,A&fts=all	A67T	--	--	1																																			0,1,1	1		benign(0.048)	p.A49T	NM_198582	NP_940984		tolerated(0.34)	0,1,1	KLH30_HUMAN	KLHL30	HGNC	Q0D2K2	KLH30_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	J3KND5_HUMAN		1	178	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	UPI00001D7DA5	67			BTB.		SNV	KLHL30,missense_variant,p.Ala67Thr,ENST00000409223,;KLHL30,missense_variant,p.Ala49Thr,ENST00000305959,NM_198582.3;	uc002vxr.1	c.145G>A	306/3726	1	1			c.145G>A						2	SNP	c.(145-147)GCC>ACC	53	53				0	Broad	kelch-like 30			239049594		0.677	ENSG00000168427	8241	g.chr2:239049594G>A										331.406127	KEEP	67	66	-1	102	95	67	66	-1	333.476635	102	95	0.406593	1	0	0	0	0	1	0	0	0	--	--		0	A				248	GBM-32-4719-TP	p.A49T	G	GGGTGACTTCGCCGAGAGCTT	NM_198582	NP_940984	239049594	Q0D2K2	KLH30_HUMAN	0		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	1	178	+	A	A		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	Missense_Mutation	67			BTB.			
KLHL34	257240	broad.mit.edu	GRCh37	X	21675201	21675201	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01	TCGA-06-2558-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379499.2:c.706G>A	p.Val236Met	p.V236M	ENST00000379499	NM_153270.1	236	Gtg/Atg	0			1			T	V/M	uc004czz.1	protein_coding	YES	CCDS14199.1			706/1935									ovary(1)	1	c.(706-708)GTG>ATG			Pfam_domain:PF07707,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF66,SMART_domains:SM00875	kelch-like 34				ENSP00000368813		1-Jan									COSM1119175	1-Jan	.		ENST00000379499	Transcript						ENSG00000185915	g.chrX:21675201C>T	26634			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=KLH34_HUMAN&rb=131&re=238&var=V236M	NA	getma.org/?cm=var&var=hg19,X,21675201,C,T&fts=all	V236M	--	--	1																																			1	1		benign(0.066)	p.V236M	NM_153270	NP_695002		tolerated(0.11)	1	KLH34_HUMAN	KLHL34	HGNC	Q8N239	KLH34_HUMAN					1	1248	-			UPI0000072CC4	236			BACK.		SNV	KLHL34,missense_variant,p.Val236Met,ENST00000379499,NM_153270.1;CNKSR2,downstream_gene_variant,,ENST00000425654,NM_001168647.1;CNKSR2,downstream_gene_variant,,ENST00000379510,NM_014927.3;	uc004czz.1	c.706G>A	1248/2840	2	2			c.706G>A						23	SNP	c.(706-708)GTG>ATG	30	30			ovary(1)	1	Broad	kelch-like 34			21675201		0.667	ENSG00000185915	8244	g.chrX:21675201C>T										35.76427	KEEP	6	8	-1	8	14	6	8	-1	36.177636	8	14	0.382353	1	0	0	0	0	1	0	0	0	--	--		0	T				82	GBM-06-2558-TP	p.V236M	C	CCCGAGTACACGCGCCGCAGT	NM_153270	NP_695002	21675201	Q8N239	KLH34_HUMAN	0			1	1248	-	T	T			Missense_Mutation	236			BACK.			
KLHL34	0	broad.mit.edu	GRCh37	X	21674007	21674007	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379499.2:c.1900G>A	p.Glu634Lys	p.E634K	ENST00000379499	NM_153270.1	634	Gag/Aag	0			1			T	E/K	uc004czz.1	protein_coding	YES	CCDS14199.1			1900/1935									ovary(1)	1	c.(1900-1902)GAG>AAG			hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF66,Low_complexity_(Seg):seg	kelch-like 34				ENSP00000368813		1-Jan									COSM3406227	1-Jan	.		ENST00000379499	Transcript						ENSG00000185915	g.chrX:21674007C>T	26634			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=KLH34_HUMAN&rb=525&re=644&var=E634K	NA	getma.org/?cm=var&var=hg19,X,21674007,C,T&fts=all	E634K	--	--	1																																			1	1		benign(0.133)	p.E634K	NM_153270	NP_695002		tolerated_low_confidence(0.23)	1	KLH34_HUMAN	KLHL34	HGNC	Q8N239	KLH34_HUMAN					1	2442	-			UPI0000072CC4	634					SNV	KLHL34,missense_variant,p.Glu634Lys,ENST00000379499,NM_153270.1;CNKSR2,downstream_gene_variant,,ENST00000425654,NM_001168647.1;CNKSR2,downstream_gene_variant,,ENST00000379510,NM_014927.3;	uc004czz.1	c.1900G>A	2442/2840	2	2			c.1900G>A						23	SNP	c.(1900-1902)GAG>AAG	46	46			ovary(1)	1	Broad	kelch-like 34			21674007		0.637	ENSG00000185915	8244	g.chrX:21674007C>T										34.257922	KEEP	7	6	-1	16	14	7	6	-1	35.097575	16	14	0.342105	1	0	0	0	0	1	0	0	0	--	--		0	T				159	GBM-19-1390-TP	p.E634K	C	TCTCCAACCTCTCCCTCCCTC	NM_153270	NP_695002	21674007	Q8N239	KLH34_HUMAN	0			1	2442	-	T	T			Missense_Mutation	634						
KLHL34	0	broad.mit.edu	GRCh37	X	21675213	21675213	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-4935-01	TCGA-76-4935-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379499.2:c.694G>C	p.Val232Leu	p.V232L	ENST00000379499	NM_153270.1	232	Gta/Cta	0			1			G	V/L	uc004czz.1	protein_coding	YES	CCDS14199.1			694/1935									ovary(1)	1	c.(694-696)GTA>CTA			Pfam_domain:PF07707,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF66,SMART_domains:SM00875	kelch-like 34				ENSP00000368813		1-Jan									COSM3406228	1-Jan	.		ENST00000379499	Transcript						ENSG00000185915	g.chrX:21675213C>G	26634			MODERATE		-0.16	neutral	getma.org/?cm=msa&ty=f&p=KLH34_HUMAN&rb=131&re=238&var=V232L	NA	getma.org/?cm=var&var=hg19,X,21675213,C,G&fts=all	V232L	--	--	1																																			1	1		benign(0.009)	p.V232L	NM_153270	NP_695002		tolerated(0.4)	1	KLH34_HUMAN	KLHL34	HGNC	Q8N239	KLH34_HUMAN					1	1236	-			UPI0000072CC4	232			BACK.		SNV	KLHL34,missense_variant,p.Val232Leu,ENST00000379499,NM_153270.1;CNKSR2,downstream_gene_variant,,ENST00000425654,NM_001168647.1;CNKSR2,downstream_gene_variant,,ENST00000379510,NM_014927.3;	uc004czz.1	c.694G>C	1236/2840	3	3			c.694G>C						23	SNP	c.(694-696)GTA>CTA	15	15			ovary(1)	1	Broad	kelch-like 34			21675213		0.667	ENSG00000185915	8244	g.chrX:21675213C>G										30.470484	KEEP	3	9	-1	9	9	3	9	-1	30.900875	9	9	0.36	1	0	0	0	0	1	0	0	0	--	--		0	G				273	GBM-76-4935-TP	p.V232L	C	CGCCGCAGTACGTCGGCGGGA	NM_153270	NP_695002	21675213	Q8N239	KLH34_HUMAN	0			1	1236	-	G	G			Missense_Mutation	232			BACK.			
KLHL36	0	broad.mit.edu	GRCh37	16	84691222	84691222	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000564996.1:c.809C>A	p.Ala270Asp	p.A270D	ENST00000564996	NM_024731.2	270	gCc/gAc	0			1			A	A/D	uc002fig.2	protein_coding	YES	CCDS10948.1			809/1851									skin(2)	2	c.(808-810)GCC>GAC			Gene3D:1k3iA02,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF161	kelch-like 36				ENSP00000456743		5-Mar									COSM3748006	5-Mar	.		ENST00000564996	Transcript						ENSG00000135686	g.chr16:84691222C>A	17844			MODERATE		2.895	medium	getma.org/?cm=msa&ty=f&p=KLH36_HUMAN&rb=251&re=333&var=A270D	NA	getma.org/?cm=var&var=hg19,16,84691222,C,A&fts=all	A270D	--	--	1																																		KLHL36_uc010chl.2_Missense_Mutation_p.A269D	1	1		probably_damaging(0.981)	p.A270D	NM_024731	NP_079007		deleterious(0)	1	KLH36_HUMAN	KLHL36	HGNC	Q8N4N3	KLH36_HUMAN			H3BQW5_HUMAN,H3BQE9_HUMAN,H3BPB9_HUMAN		3	950	+			UPI000006F9CF	270					SNV	KLHL36,missense_variant,p.Ala270Asp,ENST00000564996,NM_024731.2;KLHL36,missense_variant,p.Ala270Asp,ENST00000258157,;KLHL36,downstream_gene_variant,,ENST00000567410,;KLHL36,downstream_gene_variant,,ENST00000565743,;KLHL36,downstream_gene_variant,,ENST00000569472,;KLHL36,upstream_gene_variant,,ENST00000325279,;KLHL36,upstream_gene_variant,,ENST00000564159,;	uc002fig.2	c.809C>A	950/2173	2	2			c.809C>A						16	SNP	c.(808-810)GCC>GAC	46	46			skin(2)	2	Broad	kelch-like 36			84691222		0.677	ENSG00000135686	8246	g.chr16:84691222C>A										-3.486944	KEEP	2	2	0.5	31	28	2	2	0.5	6.984805	31	28	0.071429	1	0	0	0	0	1	0	0	0	--	--		0	A			KLHL36_uc010chl.2_Missense_Mutation_p.A269D	246	GBM-32-4211-TP	p.A270D	C	ATCGAGGAGGCCGTGCGCTAC	NM_024731	NP_079007	84691222	Q8N4N3	KLH36_HUMAN	0			3	950	+	A	A			Missense_Mutation	270						
KLHL4	56062	broad.mit.edu	GRCh37	X	86773199	86773199	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0125-01	TCGA-06-0125-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373114.4:c.303A>G	p.Gln101=	p.Q101=	ENST00000373114	NM_057162.2	101	caA/caG	0			1			G	Q	uc004efb.2	protein_coding		CCDS14457.1			303/2157									ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5	c.(301-303)CAA>CAG				kelch-like 4 isoform 1				ENSP00000362211		11-Jan									COSM3406648,COSM3406649	11-Jan	.		ENST00000373119	Transcript				cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	ENSG00000102271	g.chrX:86773199A>G	6355			LOW								--	--	1																																		KLHL4_uc004efa.2_Silent_p.Q101Q	1,1				p.Q101Q	NM_019117	NP_061990			1,1	KLHL4_HUMAN	KLHL4	HGNC	Q9C0H6	KLHL4_HUMAN			Q9H955_HUMAN,Q8N3U5_HUMAN,A5PKX1_HUMAN		1	485	+			UPI000012DE06	101					SNV	KLHL4,synonymous_variant,p.=,ENST00000373119,NM_019117.4;KLHL4,synonymous_variant,p.=,ENST00000373114,NM_057162.2;	uc004efb.2	c.303A>G	448/5818	3	3			c.303A>G						23	SNP	c.(301-303)CAA>CAG	10	10			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5	Broad	kelch-like 4 isoform 1			86773199		0.438	ENSG00000102271	8248	g.chrX:86773199A>G		cytoplasm|microtubule cytoskeleton|nucleolus	actin binding							-22.182795	KEEP	1	2	-1	55	61	1	2	-1	6.686737	55	61	0.025862	1	0	0	0	0	0	0	1	0	--	--		0	G			KLHL4_uc004efa.2_Silent_p.Q101Q	12	GBM-06-0125-TP	p.Q101Q	A	TACATTTTCAAGCAAATGAAG	NM_019117	NP_061990	86773199	Q9C0H6	KLHL4_HUMAN	0			1	485	+	G	G			Silent	101						
KLHL4	0	broad.mit.edu	GRCh37	X	86887278	86887278	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-12-0619-01	TCGA-12-0619-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373119.4:c.1393C>A	p.Arg465Ser	p.R465S	ENST00000373119	NM_019117.4	465	Cgt/Agt	0			1			A	R/S	uc004efb.2	protein_coding		CCDS14457.1			1393/2157									ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5	c.(1393-1395)CGT>AGT			Superfamily_domains:0052715,SMART_domains:SM00612,Gene3D:1k3iA02,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF74	kelch-like 4 isoform 1				ENSP00000362211		11-Jul									COSM2153660,COSM2153661	11-Jul	.		ENST00000373119	Transcript				cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	ENSG00000102271	g.chrX:86887278C>A	6355			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=KLHL4_HUMAN&rb=465&re=510&var=R465S	getma.org/pdb.php?prot=KLHL4_HUMAN&from=465&to=510&var=R465S	getma.org/?cm=var&var=hg19,X,86887278,C,A&fts=all	R465S	--	--	1																																		KLHL4_uc004efa.2_Missense_Mutation_p.R465S	1,1			probably_damaging(0.958)	p.R465S	NM_019117	NP_061990		deleterious(0)	1,1	KLHL4_HUMAN	KLHL4	HGNC	Q9C0H6	KLHL4_HUMAN			Q9H955_HUMAN,Q8N3U5_HUMAN,A5PKX1_HUMAN		7	1575	+			UPI000012DE06	465			Kelch 1.		SNV	KLHL4,missense_variant,p.Arg465Ser,ENST00000373119,NM_019117.4;KLHL4,missense_variant,p.Arg465Ser,ENST00000373114,NM_057162.2;	uc004efb.2	c.1393C>A	1538/5818	1	1			c.1393C>A						23	SNP	c.(1393-1395)CGT>AGT	55	55			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5	Broad	kelch-like 4 isoform 1			86887278		0.393	ENSG00000102271	8248	g.chrX:86887278C>A		cytoplasm|microtubule cytoskeleton|nucleolus	actin binding							151.603503	KEEP	20	25	0.555555556	9	9	20	25	0.555555556	154.915291	9	9	0.759259	1	0	0	0	0	1	0	0	0	--	--		0	A			KLHL4_uc004efa.2_Missense_Mutation_p.R465S	120	GBM-12-0619-TP	p.R465S	C	CATGAATGGCCGTAGGCTTCA	NM_019117	NP_061990	86887278	Q9C0H6	KLHL4_HUMAN	0			7	1575	+	A	A			Missense_Mutation	465			Kelch 1.			
KLHL4	56062		GRCh37	X	86890583	86890583	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000373114.4:c.1733G>A	p.Arg578His	p.R578H	ENST00000373114	NM_057162.2	578	cGt/cAt	0																																																																																																																																																																																																																																												
KLHL41	10324	broad.mit.edu	GRCh37	2	170382111	170382111	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-2564-01	TCGA-06-2564-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284669.1:c.1726A>G	p.Lys576Glu	p.K576E	ENST00000284669	NM_006063.2	576	Aaa/Gaa	0			1			G	K/E	uc002ueu.1	protein_coding	YES	CCDS2234.1			1726/1821										0	c.(1726-1728)AAA>GAA			hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF146,Gene3D:1zgkA00,PIRSF_domain:PIRSF037037,Superfamily_domains:0052715	kelch repeat and BTB (POZ) domain containing 10				ENSP00000284669		6-Jun									COSM3407046	6-Jun	.		ENST00000284669	Transcript	1		striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle		ENSG00000239474	g.chr2:170382111A>G	16905			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=KBTBA_HUMAN&rb=530&re=606&var=K576E	getma.org/pdb.php?prot=KBTBA_HUMAN&from=530&to=606&var=K576E	getma.org/?cm=var&var=hg19,2,170382111,A,G&fts=all	K576E	--	--	1																																		KBTBD10_uc010zdh.1_Missense_Mutation_p.K514E	1	1		benign(0.05)	p.K576E	NM_006063	NP_006054		deleterious(0.03)	1	KLH41_HUMAN	KLHL41	HGNC	O60662	KBTBA_HUMAN					6	1803	+			UPI0000000DC5	576			Kelch 5.		SNV	KLHL41,missense_variant,p.Lys576Glu,ENST00000284669,NM_006063.2;BBS5,missense_variant,p.Lys514Glu,ENST00000554017,;RP11-724O16.1,missense_variant,p.Lys514Glu,ENST00000513963,;FASTKD1,downstream_gene_variant,,ENST00000453153,NM_024622.4;FASTKD1,downstream_gene_variant,,ENST00000453929,NM_001281476.1;KLHL41,downstream_gene_variant,,ENST00000463400,;FASTKD1,downstream_gene_variant,,ENST00000495505,;FASTKD1,downstream_gene_variant,,ENST00000490590,;FASTKD1,downstream_gene_variant,,ENST00000488951,;	uc002ueu.1	c.1726A>G	1803/2464	3	3			c.1726A>G						2	SNP	c.(1726-1728)AAA>GAA	52	52				0	Broad	kelch repeat and BTB (POZ) domain containing 10			170382111		0.373	ENSG00000239474	7854	g.chr2:170382111A>G	striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle								-26.496663	KEEP	3	0	-1	68	78	3	0	-1	6.725965	68	78	0.022901	1	0	0	0	0	1	0	0	0	--	--		0	G			KBTBD10_uc010zdh.1_Missense_Mutation_p.K514E	87	GBM-06-2564-TP	p.K576E	A	AGATGATAAAAAAGAATGGGC	NM_006063	NP_006054	170382111	O60662	KBTBA_HUMAN	0			6	1803	+	G	G			Missense_Mutation	576			Kelch 5.			
KLHL5	51088	broad.mit.edu	GRCh37	4	39116882	39116882	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01	TCGA-06-0743-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504108.1:c.2143G>A	p.Gly715Arg	p.G715R	ENST00000504108	NM_015990.4	715	Ggg/Agg	0			1			A	G/R	uc003gts.2	protein_coding	YES	CCDS33974.1			2143/2268									ovary(1)	1	c.(2143-2145)GGG>AGG			hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF135,Gene3D:1k3iA02,Pfam_domain:PF01344,SMART_domains:SM00612,Superfamily_domains:0052715	kelch-like 5 isoform 1				ENSP00000423897		11-Oct									COSM3409279,COSM3409280,COSM3409281	11-Oct	.		ENST00000504108	Transcript				cytoplasm|cytoskeleton	actin binding	ENSG00000109790	g.chr4:39116882G>A	6356			MODERATE		4.845	high	getma.org/?cm=msa&ty=f&p=KLHL5_HUMAN&rb=697&re=742&var=G715R	getma.org/pdb.php?prot=KLHL5_HUMAN&from=697&to=742&var=G715R	getma.org/?cm=var&var=hg19,4,39116882,G,A&fts=all	G715R	--	--	1																																		KLHL5_uc003gtp.2_Missense_Mutation_p.G669R|KLHL5_uc003gtq.2_Missense_Mutation_p.G528R|KLHL5_uc003gtr.1_Missense_Mutation_p.G715R|KLHL5_uc003gtt.2_Missense_Mutation_p.G654R	1,1,1	1		probably_damaging(1)	p.G715R	NM_015990	NP_057074		deleterious(0)	1,1,1	KLHL5_HUMAN	KLHL5	HGNC	Q96PQ7	KLHL5_HUMAN			Q642I3_HUMAN		10	2218	+			UPI000013D185	715			Kelch 6.		SNV	KLHL5,missense_variant,p.Gly669Arg,ENST00000261425,NM_001007075.2;KLHL5,missense_variant,p.Gly654Arg,ENST00000261426,NM_199039.3;KLHL5,missense_variant,p.Gly715Arg,ENST00000381930,;KLHL5,missense_variant,p.Gly528Arg,ENST00000508137,NM_001171654.1;KLHL5,missense_variant,p.Gly715Arg,ENST00000504108,NM_015990.4;KLHL5,missense_variant,p.Gly715Arg,ENST00000359687,;KLHL5,missense_variant,p.Gly227Arg,ENST00000515612,;RP11-360F5.1,intron_variant,,ENST00000509449,;	uc003gts.2	c.2143G>A	2426/2690	1	1			c.2143G>A						4	SNP	c.(2143-2145)GGG>AGG	62	62			ovary(1)	1	Broad	kelch-like 5 isoform 1			39116882		0.458	ENSG00000109790	8249	g.chr4:39116882G>A		cytoplasm|cytoskeleton	actin binding							94.540612	KEEP	15	16	-1	26	24	15	16	-1	95.359708	26	24	0.38961	1	0	0	0	0	1	0	0	0	--	--		0	A			KLHL5_uc003gtp.2_Missense_Mutation_p.G669R|KLHL5_uc003gtq.2_Missense_Mutation_p.G528R|KLHL5_uc003gtr.1_Missense_Mutation_p.G715R|KLHL5_uc003gtt.2_Missense_Mutation_p.G654R	65	GBM-06-0743-TP	p.G715R	G	TGCTGTTGGGGGGTATGATGG	NM_015990	NP_057074	39116882	Q96PQ7	KLHL5_HUMAN	0			10	2218	+	A	A			Missense_Mutation	715			Kelch 6.			
KLHL5	51088	broad.mit.edu	GRCh37	4	39116788	39116788	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-06-5410-01	TCGA-06-5410-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504108.1:c.2049C>G	p.Pro683=	p.P683=	ENST00000504108	NM_015990.4	683	ccC/ccG	0			1			G	P	uc003gts.2	protein_coding	YES	CCDS33974.1			2049/2268									ovary(1)	1	c.(2047-2049)CCC>CCG			hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF135,Gene3D:1k3iA02,Pfam_domain:PF01344,SMART_domains:SM00612,Superfamily_domains:0052715	kelch-like 5 isoform 1				ENSP00000423897		11-Oct									COSM3409276,COSM3409277,COSM3409278	11-Oct	.		ENST00000504108	Transcript				cytoplasm|cytoskeleton	actin binding	ENSG00000109790	g.chr4:39116788C>G	6356			LOW								--	--	1																																		KLHL5_uc003gtp.2_Silent_p.P637P|KLHL5_uc003gtq.2_Silent_p.P496P|KLHL5_uc003gtr.1_Silent_p.P683P|KLHL5_uc003gtt.2_Silent_p.P622P	1,1,1	1			p.P683P	NM_015990	NP_057074			1,1,1	KLHL5_HUMAN	KLHL5	HGNC	Q96PQ7	KLHL5_HUMAN			Q642I3_HUMAN		10	2124	+			UPI000013D185	683			Kelch 5.		SNV	KLHL5,synonymous_variant,p.=,ENST00000261425,NM_001007075.2;KLHL5,synonymous_variant,p.=,ENST00000261426,NM_199039.3;KLHL5,synonymous_variant,p.=,ENST00000381930,;KLHL5,synonymous_variant,p.=,ENST00000508137,NM_001171654.1;KLHL5,synonymous_variant,p.=,ENST00000504108,NM_015990.4;KLHL5,synonymous_variant,p.=,ENST00000359687,;KLHL5,synonymous_variant,p.=,ENST00000515612,;RP11-360F5.1,intron_variant,,ENST00000509449,;	uc003gts.2	c.2049C>G	2332/2690	3	3			c.2049C>G						4	SNP	c.(2047-2049)CCC>CCG	61	61			ovary(1)	1	Broad	kelch-like 5 isoform 1			39116788		0.383	ENSG00000109790	8249	g.chr4:39116788C>G		cytoplasm|cytoskeleton	actin binding							-8.631455	KEEP	1	2	-1	41	34	1	2	-1	6.496107	41	34	0.044118	1	0	0	0	0	0	0	1	0	--	--		0	G			KLHL5_uc003gtp.2_Silent_p.P637P|KLHL5_uc003gtq.2_Silent_p.P496P|KLHL5_uc003gtr.1_Silent_p.P683P|KLHL5_uc003gtt.2_Silent_p.P622P	93	GBM-06-5410-TP	p.P683P	C	GATATGATCCCAAAACAGACA	NM_015990	NP_057074	39116788	Q96PQ7	KLHL5_HUMAN	0			10	2124	+	G	G			Silent	683			Kelch 5.			
KLHL8	0	broad.mit.edu	GRCh37	4	88091238	88091238	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4928-01	TCGA-76-4928-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273963.5:c.1530C>T	p.Tyr510=	p.Y510=	ENST00000273963	NM_020803.3	510	taC/taT	0			1			A	Y	uc011cdb.1	protein_coding	YES	CCDS3617.1			1530/1863										0	c.(1528-1530)TAC>TAT			hmmpanther:PTHR24412:SF138,hmmpanther:PTHR24412,Gene3D:1k3iA02,Pfam_domain:PF01344,SMART_domains:SM00612,PIRSF_domain:PIRSF037037,Superfamily_domains:0047741	kelch-like 8				ENSP00000273963		10-Aug	8.24E-06					1.50E-05			rs749324440,COSM2957008	10-Aug	.		ENST00000273963	Transcript						ENSG00000145332	g.chr4:88091238G>A	18644			LOW								--	--	1																																		KLHL8_uc003hql.1_Silent_p.Y510Y|KLHL8_uc003hqm.1_Silent_p.Y434Y|KLHL8_uc003hqn.1_Silent_p.Y327Y|KLHL8_uc010ikj.1_Silent_p.Y159Y	0,1	1			p.Y510Y	NM_020803	NP_065854			0,1	KLHL8_HUMAN	KLHL8	HGNC	Q9P2G9	KLHL8_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000603)	Q49A95_HUMAN		8	1915	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	UPI00001AE9B8	510			Kelch 5.		SNV	KLHL8,synonymous_variant,p.=,ENST00000273963,NM_020803.3;KLHL8,synonymous_variant,p.=,ENST00000498875,;KLHL8,synonymous_variant,p.=,ENST00000425278,;KLHL8,synonymous_variant,p.=,ENST00000512111,;KLHL8,synonymous_variant,p.=,ENST00000545252,;KLHL8,non_coding_transcript_exon_variant,,ENST00000505388,;KLHL8,downstream_gene_variant,,ENST00000504029,;KLHL8,3_prime_UTR_variant,,ENST00000506985,;RP11-476C8.2,downstream_gene_variant,,ENST00000505836,;	uc011cdb.1	c.1530C>T	1872/5621	2	2			c.1530C>T						4	SNP	c.(1528-1530)TAC>TAT	45	45				0	Broad	kelch-like 8			88091238		0.358	ENSG00000145332	8252	g.chr4:88091238G>A										32.608096	KEEP	22	14	-1	106	121	22	14	-1	64.252015	106	121	0.125541	1	0	0	0	0	0	0	1	0	--	--		0	A			KLHL8_uc003hql.1_Silent_p.Y510Y|KLHL8_uc003hqm.1_Silent_p.Y434Y|KLHL8_uc003hqn.1_Silent_p.Y327Y|KLHL8_uc010ikj.1_Silent_p.Y159Y	268	GBM-76-4928-TP	p.Y510Y	G	CACCAACTACGTATAAGCAAC	NM_020803	NP_065854	88091238	Q9P2G9	KLHL8_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;0.000603)	8	1915	-	A	A		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	Silent	510			Kelch 5.			
KLK11	0	broad.mit.edu	GRCh37	19	51528895	51528895	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-4209-01	TCGA-32-4209-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000594768.1:c.89T>C	p.Leu30Pro	p.L30P	ENST00000594768	NM_144947.1	30	cTc/cCc	0			1			G	L/P	uc002pvd.1	protein_coding	YES	CCDS12818.1			89/849										0	c.(88-90)CTC>CCC			hmmpanther:PTHR24275,hmmpanther:PTHR24275:SF13,Low_complexity_(Seg):seg	kallikrein 11 isoform 2 precursor				ENSP00000473047		6-Feb									COSM3748065	6-Feb	.		ENST00000594768	Transcript			proteolysis	extracellular region	serine-type endopeptidase activity	ENSG00000167757	g.chr19:51528895A>G	6359			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=KLK11_HUMAN&rb=1&re=53&var=L30P	NA	getma.org/?cm=var&var=hg19,19,51528895,A,G&fts=all	L30P	--	--	1																																		KLK11_uc002pvb.1_5'UTR|KLK11_uc002pve.1_5'UTR|KLK11_uc002pvf.1_5'UTR|KLK11_uc002pvc.3_5'UTR|KLK11_uc010eom.2_5'UTR	1	1		probably_damaging(0.993)	p.L30P	NM_144947	NP_659196		tolerated(0.12)	1	KLK11_HUMAN	KLK11	HGNC	Q9UBX7	KLK11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)	M0QZV0_HUMAN,M0QZI8_HUMAN		2	201	-		all_neural(266;0.026)	UPI000002ACDC	30					SNV	KLK11,missense_variant,p.Leu30Pro,ENST00000594768,NM_144947.1;KLK11,5_prime_UTR_variant,,ENST00000319720,NM_001167605.1,NM_006853.2;KLK11,5_prime_UTR_variant,,ENST00000453757,NM_001136032.2;KLK11,5_prime_UTR_variant,,ENST00000391804,;KLK11,5_prime_UTR_variant,,ENST00000600362,;KLK11,5_prime_UTR_variant,,ENST00000598799,;KLK11,5_prime_UTR_variant,,ENST00000601671,;KLK12,downstream_gene_variant,,ENST00000250352,;KLK12,downstream_gene_variant,,ENST00000525263,;KLK12,downstream_gene_variant,,ENST00000319590,NM_145894.1,NM_019598.2;KLK12,downstream_gene_variant,,ENST00000250351,;KLK12,downstream_gene_variant,,ENST00000529888,NM_145895.1;KLK11,upstream_gene_variant,,ENST00000593681,;CTC-518B2.9,upstream_gene_variant,,ENST00000594910,;KLK11,non_coding_transcript_exon_variant,,ENST00000594458,;KLK11,missense_variant,p.Leu30Pro,ENST00000319756,;KLK11,non_coding_transcript_exon_variant,,ENST00000594827,;KLK12,downstream_gene_variant,,ENST00000526824,;KLK12,downstream_gene_variant,,ENST00000531374,;KLK12,downstream_gene_variant,,ENST00000530943,;	uc002pvd.1	c.89T>C	275/1347	3	3			c.89T>C						19	SNP	c.(88-90)CTC>CCC	64	64				0	Broad	kallikrein 11 isoform 2 precursor			51528895		0.627	ENSG00000167757	8256	g.chr19:51528895A>G	proteolysis	extracellular region	serine-type endopeptidase activity							0.625478	KEEP	2	2	-1	26	14	2	2	-1	6.734005	26	14	0.064516	1	0	0	0	0	1	0	0	0	--	--		0	G			KLK11_uc002pvb.1_5'UTR|KLK11_uc002pve.1_5'UTR|KLK11_uc002pvf.1_5'UTR|KLK11_uc002pvc.3_5'UTR|KLK11_uc010eom.2_5'UTR	244	GBM-32-4209-TP	p.L30P	A	CATGGCCTGGAGGGGGGAGGA	NM_144947	NP_659196	51528895	Q9UBX7	KLK11_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)	2	201	-	G	G		all_neural(266;0.026)	Missense_Mutation	30						
KLK13	26085		GRCh37	19	51563780	51563780	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-2510-01	TCGA-28-2510-01																				ENST00000595793.1:c.149A>G	p.Gln50Arg	p.Q50R	ENST00000595793	NM_015596.1	50	cAg/cGg	0																																																																																																																																																																																																																																												
KLK14	43847	broad.mit.edu	GRCh37	19	51582885	51582885	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs61998181	by1000genomes	TCGA-06-0125-01	TCGA-06-0125-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000391802.1:c.335G>A	p.Arg112His	p.R112H	ENST00000391802	NM_022046.4	112	cGt/cAt	0	T:0.0163	T:0.0234	1	T:0		T	R/H	uc002pvs.1	protein_coding		CCDS12823.2			335/804									skin(1)	1	c.(334-336)CGT>CAT			Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24275,hmmpanther:PTHR24275:SF49,Low_complexity_(Seg):seg,SMART_domains:SM00020,Superfamily_domains:SSF50494	kallikrein 14 preproprotein		T:0	T:0.0001	ENSP00000156499	T:0	8-May	0.0015	0.0213	0.00132			0.000228	0.00505		rs61998181,COSM2149368,COSM2149367	8-May	common_variant		ENST00000156499	Transcript		T:0.0062	epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity	ENSG00000129437	g.chr19:51582885C>T	6362			MODERATE		2.13	medium	getma.org/?cm=msa&ty=f&p=KLK14_HUMAN&rb=41&re=260&var=R112H	getma.org/pdb.php?prot=KLK14_HUMAN&from=41&to=260&var=R112H	getma.org/?cm=var&var=hg19,19,51582885,C,T&fts=all	R112H	--	--	1																																			0,1,1			benign(0.327)	p.R112H	NM_022046	NP_071329	T:0	tolerated(0.1)	0,1,1	KLK14_HUMAN	KLK14	HGNC	Q9P0G3	KLK14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)			5	554	-		all_neural(266;0.0199)	UPI0000D48B96	112			Peptidase S1.		SNV	KLK14,missense_variant,p.Arg112His,ENST00000391802,NM_022046.4;KLK14,missense_variant,p.Arg112His,ENST00000156499,;	uc002pvs.1	c.335G>A	554/1060	2	2			c.335G>A						19	SNP	c.(334-336)CGT>CAT	18	18			skin(1)	1	Broad	kallikrein 14 preproprotein			51582885		0.657	ENSG00000129437	8259	g.chr19:51582885C>T	epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity	GBM(117;2161 2172 2448 22911)			GBM(117;2161 2172 2448 22911)			16.106922	KEEP	4	5	-1	15	16	4	5	-1	19.447653	15	16	0.189189	1	0	0	0	0	1	0	0	0	--	--		0	T				12	GBM-06-0125-TP	p.R112H	C	CGTCACCTGACGAACCACGCG	NM_022046	NP_071329	51582885	Q9P0G3	KLK14_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)	5	554	-	T	T		all_neural(266;0.0199)	Missense_Mutation	112			Peptidase S1.			
KLK15	0	broad.mit.edu	GRCh37	19	51330985	51330985	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs140896741	byFrequency	TCGA-27-1832-01	TCGA-27-1832-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000598239.1:c.130C>T	p.Arg44Cys	p.R44C	ENST00000598239	NM_001277081.1	44	Cgc/Tgc	0	A:0		1			A	R/C	uc002ptl.2	protein_coding	YES	CCDS12805.1			130/771									lung(1)|breast(1)	2	c.(130-132)CGC>TGC			PROSITE_profiles:PS50240,hmmpanther:PTHR24259,hmmpanther:PTHR24259:SF68,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	kallikrein-related peptidase 15 isoform 4			A:0.0003	ENSP00000469315		5-Feb	1.65E-05					3.03E-05			rs140896741,COSM3404490	5-Feb	.		ENST00000598239	Transcript			proteolysis	extracellular region	serine-type endopeptidase activity	ENSG00000174562	g.chr19:51330985G>A	20453			MODERATE		2.035	medium	getma.org/?cm=msa&ty=f&p=KLK15_HUMAN&rb=22&re=249&var=R44C	getma.org/pdb.php?prot=KLK15_HUMAN&from=22&to=249&var=R44C	getma.org/?cm=var&var=hg19,19,51330985,G,A&fts=all	R44C	--	--	1																																		KLK15_uc002ptm.2_Missense_Mutation_p.R44C|KLK15_uc002ptn.2_Missense_Mutation_p.R44C|KLK15_uc002pto.2_Missense_Mutation_p.R43C|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_Missense_Mutation_p.R43C|KLK15_uc010eod.2_RNA	0,1	1		probably_damaging(0.976)	p.R44C	NM_017509	NP_059979		deleterious(0)	0,1	KLK15_HUMAN	KLK15	HGNC	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	S5TEP0_HUMAN,M0R2F7_HUMAN		2	161	-		all_neural(266;0.057)	UPI000004CA04	44			Peptidase S1.		SNV	KLK15,missense_variant,p.Arg43Cys,ENST00000326856,;KLK15,missense_variant,p.Arg44Cys,ENST00000301421,NM_001277082.1;KLK15,missense_variant,p.Arg44Cys,ENST00000416184,;KLK15,missense_variant,p.Arg44Cys,ENST00000598239,NM_001277081.1,NM_017509.3;KLK15,missense_variant,p.Arg43Cys,ENST00000596931,;KLK15,5_prime_UTR_variant,,ENST00000598673,;KLK1,upstream_gene_variant,,ENST00000448701,;KLK1,upstream_gene_variant,,ENST00000301420,NM_002257.3;AC011523.2,upstream_gene_variant,,ENST00000598079,;KLK15,missense_variant,p.Arg43Cys,ENST00000602114,;KLK15,non_coding_transcript_exon_variant,,ENST00000601680,;KLK1,upstream_gene_variant,,ENST00000593325,;KLK15,upstream_gene_variant,,ENST00000596531,;KLK1,upstream_gene_variant,,ENST00000593859,;	uc002ptl.2	c.130C>T	161/855	2	2			c.130C>T						19	SNP	c.(130-132)CGC>TGC	32	32			lung(1)|breast(1)	2	Broad	kallikrein-related peptidase 15 isoform 4			51330985		0.612	ENSG00000174562	8260	g.chr19:51330985G>A	proteolysis	extracellular region	serine-type endopeptidase activity	Pancreas(140;10 2513 7143 9246)			Pancreas(140;10 2513 7143 9246)			48.089318	KEEP	8	11	-1	33	39	8	11	-1	52.941105	33	39	0.240506	1	0	0	0	0	1	0	0	0	--	--		0	A			KLK15_uc002ptm.2_Missense_Mutation_p.R44C|KLK15_uc002ptn.2_Missense_Mutation_p.R44C|KLK15_uc002pto.2_Missense_Mutation_p.R43C|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_Missense_Mutation_p.R43C|KLK15_uc010eod.2_RNA	191	GBM-27-1832-TP	p.R44C	G	CAGTTAAAGCGTCCACGCTCG	NM_017509	NP_059979	51330985	Q9H2R5	KLK15_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	2	161	-	A	A		all_neural(266;0.057)	Missense_Mutation	44			Peptidase S1.			
KLK15	0	broad.mit.edu	GRCh37	19	51329907	51329907	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-2519-01	TCGA-27-2519-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000598239.1:c.588C>T	p.Gly196=	p.G196=	ENST00000598239	NM_001277081.1	196	ggC/ggT	0			1			A	G	uc002ptl.2	protein_coding	YES	CCDS12805.1			588/771									lung(1)|breast(1)	2	c.(586-588)GGC>GGT			PROSITE_profiles:PS50240,hmmpanther:PTHR24259,hmmpanther:PTHR24259:SF68,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	kallikrein-related peptidase 15 isoform 4				ENSP00000469315		5-Apr									COSM3404487	5-Apr	.		ENST00000598239	Transcript			proteolysis	extracellular region	serine-type endopeptidase activity	ENSG00000174562	g.chr19:51329907G>A	20453			LOW								--	--	1																																		KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.2_Intron|KLK15_uc002ptn.2_Intron|KLK15_uc002pto.2_Silent_p.G195G|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_Intron|KLK15_uc010eod.2_Intron	1	1			p.G196G	NM_017509	NP_059979			1	KLK15_HUMAN	KLK15	HGNC	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	S5TEP0_HUMAN,M0R2F7_HUMAN		4	619	-		all_neural(266;0.057)	UPI000004CA04	196			Peptidase S1.		SNV	KLK15,synonymous_variant,p.=,ENST00000326856,;KLK15,synonymous_variant,p.=,ENST00000598239,NM_001277081.1,NM_017509.3;KLK15,intron_variant,,ENST00000301421,NM_001277082.1;KLK15,intron_variant,,ENST00000416184,;KLK15,intron_variant,,ENST00000596931,;KLK1,upstream_gene_variant,,ENST00000448701,;KLK1,upstream_gene_variant,,ENST00000301420,NM_002257.3;KLK15,downstream_gene_variant,,ENST00000598673,;AC011523.2,upstream_gene_variant,,ENST00000598079,;KLK15,3_prime_UTR_variant,,ENST00000602114,;KLK15,non_coding_transcript_exon_variant,,ENST00000596531,;KLK15,non_coding_transcript_exon_variant,,ENST00000601680,;KLK1,upstream_gene_variant,,ENST00000593325,;KLK1,upstream_gene_variant,,ENST00000593859,;	uc002ptl.2	c.588C>T	619/855	1	1			c.588C>T						19	SNP	c.(586-588)GGC>GGT	53	53			lung(1)|breast(1)	2	Broad	kallikrein-related peptidase 15 isoform 4			51329907		0.582	ENSG00000174562	8260	g.chr19:51329907G>A	proteolysis	extracellular region	serine-type endopeptidase activity	Pancreas(140;10 2513 7143 9246)			Pancreas(140;10 2513 7143 9246)			175.476155	KEEP	28	33	-1	29	36	28	33	-1	175.493834	29	36	0.513514	1	0	0	0	0	0	0	1	0	--	--		0	A			KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.2_Intron|KLK15_uc002ptn.2_Intron|KLK15_uc002pto.2_Silent_p.G195G|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_Intron|KLK15_uc010eod.2_Intron	199	GBM-27-2519-TP	p.G196G	G	TGCCCTCCGCGCCTGCACACA	NM_017509	NP_059979	51329907	Q9H2R5	KLK15_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	4	619	-	A	A		all_neural(266;0.057)	Silent	196			Peptidase S1.			
KLK15	0	broad.mit.edu	GRCh37	19	51330300	51330300	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000598239.1:c.315C>T	p.Asn105=	p.N105=	ENST00000598239	NM_001277081.1	105	aaC/aaT	0			1			A	N	uc002ptl.2	protein_coding	YES	CCDS12805.1			315/771									lung(1)|breast(1)	2	c.(313-315)AAC>AAT			PROSITE_profiles:PS50240,hmmpanther:PTHR24259,hmmpanther:PTHR24259:SF68,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494,Prints_domain:PR00722	kallikrein-related peptidase 15 isoform 4				ENSP00000469315		5-Mar									COSM3404489	5-Mar	.		ENST00000598239	Transcript			proteolysis	extracellular region	serine-type endopeptidase activity	ENSG00000174562	g.chr19:51330300G>A	20453			LOW								--	--	1																																		KLK15_uc002ptm.2_Silent_p.N105N|KLK15_uc002ptn.2_Silent_p.N105N|KLK15_uc002pto.2_Silent_p.N104N|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_Silent_p.N104N|KLK15_uc010eod.2_RNA	1	1			p.N105N	NM_017509	NP_059979			1	KLK15_HUMAN	KLK15	HGNC	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	S5TEP0_HUMAN,M0R2F7_HUMAN		3	346	-		all_neural(266;0.057)	UPI000004CA04	105			Peptidase S1.		SNV	KLK15,synonymous_variant,p.=,ENST00000326856,;KLK15,synonymous_variant,p.=,ENST00000301421,NM_001277082.1;KLK15,synonymous_variant,p.=,ENST00000416184,;KLK15,synonymous_variant,p.=,ENST00000598239,NM_001277081.1,NM_017509.3;KLK15,synonymous_variant,p.=,ENST00000596931,;KLK15,synonymous_variant,p.=,ENST00000598673,;KLK1,upstream_gene_variant,,ENST00000448701,;KLK1,upstream_gene_variant,,ENST00000301420,NM_002257.3;AC011523.2,upstream_gene_variant,,ENST00000598079,;KLK15,synonymous_variant,p.=,ENST00000602114,;KLK15,non_coding_transcript_exon_variant,,ENST00000596531,;KLK15,non_coding_transcript_exon_variant,,ENST00000601680,;KLK1,upstream_gene_variant,,ENST00000593325,;KLK1,upstream_gene_variant,,ENST00000593859,;	uc002ptl.2	c.315C>T	346/855	2	2			c.315C>T						19	SNP	c.(313-315)AAC>AAT	20	20			lung(1)|breast(1)	2	Broad	kallikrein-related peptidase 15 isoform 4			51330300		0.687	ENSG00000174562	8260	g.chr19:51330300G>A	proteolysis	extracellular region	serine-type endopeptidase activity	Pancreas(140;10 2513 7143 9246)			Pancreas(140;10 2513 7143 9246)			144.574618	KEEP	46	40	-1	92	93	46	40	-1	149.139751	92	93	0.325444	1	0	0	0	0	0	0	1	0	--	--		0	A			KLK15_uc002ptm.2_Silent_p.N105N|KLK15_uc002ptn.2_Silent_p.N105N|KLK15_uc002pto.2_Silent_p.N104N|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_Silent_p.N104N|KLK15_uc010eod.2_RNA	249	GBM-32-5222-TP	p.N105N	G	ACATGATGTCGTTGCGGTGGC	NM_017509	NP_059979	51330300	Q9H2R5	KLK15_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	3	346	-	A	A		all_neural(266;0.057)	Silent	105			Peptidase S1.			
KLK5	0	broad.mit.edu	GRCh37	19	51452018	51452018	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-5954-01	TCGA-19-5954-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336334.3:c.604A>G	p.Lys202Glu	p.K202E	ENST00000336334	NM_012427.4	202	Aag/Gag	0			1			C	K/E	uc002pue.2	protein_coding	YES	CCDS12810.1			604/882										0	c.(604-606)AAG>GAG			PROSITE_profiles:PS50240,hmmpanther:PTHR24275:SF51,hmmpanther:PTHR24275,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	kallikrein-related peptidase 5 preproprotein				ENSP00000337733		6-May	4.94E-05					8.99E-05			rs765507937,COSM2156733	6-May	.		ENST00000336334	Transcript			epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	ENSG00000167754	g.chr19:51452018T>C	6366			MODERATE		0.305	neutral	getma.org/?cm=msa&ty=f&p=KLK5_HUMAN&rb=67&re=285&var=K202E	getma.org/pdb.php?prot=KLK5_HUMAN&from=67&to=285&var=K202E	getma.org/?cm=var&var=hg19,19,51452018,T,C&fts=all	K202E	--	--	1																																		KLK5_uc002puf.2_Missense_Mutation_p.K202E|KLK5_uc002pug.2_Missense_Mutation_p.K202E	0,1	1		benign(0.013)	p.K202E	NM_001077491	NP_001070959		tolerated(0.18)	0,1	KLK5_HUMAN	KLK5	HGNC	Q9Y337	KLK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)	M0QXX2_HUMAN		6	822	-		all_neural(266;0.026)	UPI000013E718	202			Peptidase S1.		SNV	KLK5,missense_variant,p.Lys202Glu,ENST00000336334,NM_012427.4;KLK5,missense_variant,p.Lys202Glu,ENST00000391809,NM_001077491.1;KLK5,missense_variant,p.Lys202Glu,ENST00000593428,NM_001077492.1;KLK5,missense_variant,p.Lys202Glu,ENST00000594846,;CTB-147C22.8,upstream_gene_variant,,ENST00000601506,;CTB-147C22.8,upstream_gene_variant,,ENST00000594939,;KLK5,non_coding_transcript_exon_variant,,ENST00000595585,;	uc002pue.2	c.604A>G	957/1563	3	3			c.604A>G						19	SNP	c.(604-606)AAG>GAG	64	64				0	Broad	kallikrein-related peptidase 5 preproprotein			51452018		0.502	ENSG00000167754	8264	g.chr19:51452018T>C	epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity							121.445912	KEEP	16	19	-1	18	26	16	19	-1	121.551448	18	26	0.459459	1	0	0	0	0	1	0	0	0	--	--		0	C			KLK5_uc002puf.2_Missense_Mutation_p.K202E|KLK5_uc002pug.2_Missense_Mutation_p.K202E	174	GBM-19-5954-TP	p.K202E	T	TGGAGGACCTTAGGGAAGTGC	NM_001077491	NP_001070959	51452018	Q9Y337	KLK5_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)	6	822	-	C	C		all_neural(266;0.026)	Missense_Mutation	202			Peptidase S1.			
KLK5	0	broad.mit.edu	GRCh37	19	51453308	51453308	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336334.3:c.138C>T	p.Ser46=	p.S46=	ENST00000336334	NM_012427.4	46	agC/agT	0			1			A	S	uc002pue.2	protein_coding	YES	CCDS12810.1			138/882										0	c.(136-138)AGC>AGT			hmmpanther:PTHR24275:SF51,hmmpanther:PTHR24275,Superfamily_domains:SSF50494	kallikrein-related peptidase 5 preproprotein				ENSP00000337733		6-Mar									COSM2157508	6-Mar	.		ENST00000336334	Transcript			epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	ENSG00000167754	g.chr19:51453308G>A	6366			LOW								--	--	1																																		KLK5_uc002puf.2_Silent_p.S46S|KLK5_uc002pug.2_Silent_p.S46S	1	1			p.S46S	NM_001077491	NP_001070959			1	KLK5_HUMAN	KLK5	HGNC	Q9Y337	KLK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)	M0QXX2_HUMAN		4	356	-		all_neural(266;0.026)	UPI000013E718	46	Missing (in Ref. 3; AAG33358).				SNV	KLK5,synonymous_variant,p.=,ENST00000336334,NM_012427.4;KLK5,synonymous_variant,p.=,ENST00000391809,NM_001077491.1;KLK5,synonymous_variant,p.=,ENST00000593428,NM_001077492.1;KLK5,synonymous_variant,p.=,ENST00000594846,;CTB-147C22.8,upstream_gene_variant,,ENST00000601506,;CTB-147C22.8,upstream_gene_variant,,ENST00000594939,;KLK5,non_coding_transcript_exon_variant,,ENST00000595585,;	uc002pue.2	c.138C>T	491/1563	2	2			c.138C>T						19	SNP	c.(136-138)AGC>AGT	29	29				0	Broad	kallikrein-related peptidase 5 preproprotein			51453308		0.612	ENSG00000167754	8264	g.chr19:51453308G>A	epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity							100.11903	KEEP	24	9	-1	3	5	24	9	-1	104.356643	3	5	0.842105	1	0	0	0	0	0	0	1	0	--	--		0	A			KLK5_uc002puf.2_Silent_p.S46S|KLK5_uc002pug.2_Silent_p.S46S	265	GBM-76-4925-TP	p.S46S	G	GGTCCTGGTTGCTCCCAGAGG	NM_001077491	NP_001070959	51453308	Q9Y337	KLK5_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)	4	356	-	A	A		all_neural(266;0.026)	Silent	46	Missing (in Ref. 3; AAG33358).					
KLK6	0	broad.mit.edu	GRCh37	19	51462532	51462532	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6698-01	TCGA-06-6698-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310157.2:c.623G>A	p.Arg208Gln	p.R208Q	ENST00000310157	NM_002774.3	208	cGa/cAa	0			1			T	R/Q	uc002pui.2	protein_coding		CCDS12811.1			623/735										0	c.(622-624)CGA>CAA			PROSITE_profiles:PS50240,hmmpanther:PTHR24271,hmmpanther:PTHR24271:SF19,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494	kallikrein-related peptidase 6 isoform A				ENSP00000309148		7-Jul	1.65E-05				0.000302				rs776165660,COSM3404492	7-Jul	.		ENST00000310157	Transcript			amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	ENSG00000167755	g.chr19:51462532C>T	6367			MODERATE		-0.855	neutral	getma.org/?cm=msa&ty=f&p=KLK6_HUMAN&rb=22&re=237&var=R208Q	getma.org/pdb.php?prot=KLK6_HUMAN&from=22&to=237&var=R208Q	getma.org/?cm=var&var=hg19,19,51462532,C,T&fts=all	R208Q	--	--	1																																		KLK6_uc010eoj.2_Missense_Mutation_p.E80K|KLK6_uc002puh.2_Missense_Mutation_p.R217Q|KLK6_uc002puj.2_Missense_Mutation_p.R101Q|KLK6_uc010ycn.1_Missense_Mutation_p.R101Q|KLK6_uc002pul.2_Missense_Mutation_p.R208Q|KLK6_uc002pum.2_Missense_Mutation_p.R101Q	0,1			benign(0.401)	p.R208Q	NM_001012964	NP_001012982		tolerated(1)	0,1	KLK6_HUMAN	KLK6	HGNC	Q92876	KLK6_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)			7	883	-		all_neural(266;0.026)	UPI000004CA06	208			Peptidase S1.		SNV	KLK6,missense_variant,p.Arg208Gln,ENST00000376851,NM_001012964.1;KLK6,missense_variant,p.Arg208Gln,ENST00000310157,NM_002774.3;KLK6,missense_variant,p.Arg101Gln,ENST00000391808,NM_001012965.1;KLK6,missense_variant,p.Arg208Gln,ENST00000594641,;KLK6,missense_variant,p.Arg101Gln,ENST00000456750,;KLK6,missense_variant,p.Glu80Lys,ENST00000376853,;KLK6,downstream_gene_variant,,ENST00000424910,;CTB-147C22.8,intron_variant,,ENST00000601506,;CTB-147C22.8,downstream_gene_variant,,ENST00000594939,;KLK6,3_prime_UTR_variant,,ENST00000597379,;KLK6,3_prime_UTR_variant,,ENST00000599690,;KLK6,3_prime_UTR_variant,,ENST00000599881,;	uc002pui.2	c.623G>A	866/1511	2	2			c.623G>A						19	SNP	c.(622-624)CGA>CAA	17	17				0	Broad	kallikrein-related peptidase 6 isoform A			51462532		0.393	ENSG00000167755	8265	g.chr19:51462532C>T	amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity							-33.871051	KEEP	3	1	-1	93	87	3	1	-1	6.391627	93	87	0.024845	1	0	0	0	0	1	0	0	0	--	--		0	T			KLK6_uc010eoj.2_Missense_Mutation_p.E80K|KLK6_uc002puh.2_Missense_Mutation_p.R217Q|KLK6_uc002puj.2_Missense_Mutation_p.R101Q|KLK6_uc010ycn.1_Missense_Mutation_p.R101Q|KLK6_uc002pul.2_Missense_Mutation_p.R208Q|KLK6_uc002pum.2_Missense_Mutation_p.R101Q	112	GBM-06-6698-TP	p.R208Q	C	CACAAGGCCTCGGAGGTGGTC	NM_001012964	NP_001012982	51462532	Q92876	KLK6_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)	7	883	-	T	T		all_neural(266;0.026)	Missense_Mutation	208			Peptidase S1.			
KLK6	0	broad.mit.edu	GRCh37	19	51466663	51466663	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1836-01	TCGA-27-1836-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310157.2:c.340C>T	p.Arg114Cys	p.R114C	ENST00000310157	NM_002774.3	114	Cgc/Tgc	0		A:0	1	A:0		A	R/C	uc002pui.2	protein_coding		CCDS12811.1			340/735										0	c.(340-342)CGC>TGC			PROSITE_profiles:PS50240,hmmpanther:PTHR24271,hmmpanther:PTHR24271:SF19,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494,Prints_domain:PR00722	kallikrein-related peptidase 6 isoform A		A:0.001		ENSP00000309148	A:0	7-May	4.12E-05	9.62E-05				4.50E-05		6.06E-05	rs200194649,COSM3404493	7-May	.		ENST00000310157	Transcript		A:0.0002	amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	ENSG00000167755	g.chr19:51466663G>A	6367			MODERATE		1.805	low	getma.org/?cm=msa&ty=f&p=KLK6_HUMAN&rb=22&re=237&var=R114C	getma.org/pdb.php?prot=KLK6_HUMAN&from=22&to=237&var=R114C	getma.org/?cm=var&var=hg19,19,51466663,G,A&fts=all	R114C	--	--	1																																		KLK6_uc010eoj.2_Intron|KLK6_uc002puh.2_Missense_Mutation_p.R123C|KLK6_uc002puj.2_Missense_Mutation_p.R7C|KLK6_uc010ycn.1_Missense_Mutation_p.R7C|KLK6_uc002pul.2_Missense_Mutation_p.R114C|KLK6_uc002pum.2_Missense_Mutation_p.R7C	0,1			possibly_damaging(0.758)	p.R114C	NM_001012964	NP_001012982	A:0	deleterious(0.02)	0,1	KLK6_HUMAN	KLK6	HGNC	Q92876	KLK6_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)			5	600	-		all_neural(266;0.026)	UPI000004CA06	114			Peptidase S1.		SNV	KLK6,missense_variant,p.Arg114Cys,ENST00000376851,NM_001012964.1;KLK6,missense_variant,p.Arg114Cys,ENST00000310157,NM_002774.3;KLK6,missense_variant,p.Arg7Cys,ENST00000391808,NM_001012965.1;KLK6,missense_variant,p.Arg114Cys,ENST00000594641,;KLK6,missense_variant,p.Arg7Cys,ENST00000456750,;KLK6,intron_variant,,ENST00000376853,;KLK6,downstream_gene_variant,,ENST00000424910,;CTB-147C22.8,non_coding_transcript_exon_variant,,ENST00000601506,;CTB-147C22.9,upstream_gene_variant,,ENST00000594512,;CTB-147C22.8,downstream_gene_variant,,ENST00000594939,;KLK6,3_prime_UTR_variant,,ENST00000597379,;KLK6,3_prime_UTR_variant,,ENST00000599690,;KLK6,3_prime_UTR_variant,,ENST00000599881,;	uc002pui.2	c.340C>T	583/1511	2	2			c.340C>T						19	SNP	c.(340-342)CGC>TGC	46	46				0	Broad	kallikrein-related peptidase 6 isoform A			51466663		0.612	ENSG00000167755	8265	g.chr19:51466663G>A	amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity							34.429246	KEEP	11	8	-1	23	26	11	8	-1	37.09383	23	26	0.264151	1	0	0	0	0	1	0	0	0	--	--		0	A			KLK6_uc010eoj.2_Intron|KLK6_uc002puh.2_Missense_Mutation_p.R123C|KLK6_uc002puj.2_Missense_Mutation_p.R7C|KLK6_uc010ycn.1_Missense_Mutation_p.R7C|KLK6_uc002pul.2_Missense_Mutation_p.R114C|KLK6_uc002pum.2_Missense_Mutation_p.R7C	195	GBM-27-1836-TP	p.R114C	G	TTGGCTGGGCGTGCCAGGCGC	NM_001012964	NP_001012982	51466663	Q92876	KLK6_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)	5	600	-	A	A		all_neural(266;0.026)	Missense_Mutation	114			Peptidase S1.			
KLK6	5653		GRCh37	19	51466671	51466671	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000376851.3:c.332G>A	p.Arg111His	p.R111H	ENST00000376851	NM_001012964.1	111	cGc/cAc	0																																																																																																																																																																																																																																												
KLK6	5653		GRCh37	19	51466671	51466671	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000376851.3:c.332G>A	p.Arg111His	p.R111H	ENST00000376851	NM_001012964.1	111	cGc/cAc	0																																																																																																																																																																																																																																												
KLK8	11202		GRCh37	19	51503469	51503469	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000391806.2:c.411T>C	p.Asp137=	p.D137=	ENST00000391806		137	gaT/gaC	0																																																																																																																																																																																																																																												
KLK9	284366		GRCh37	19	51509764	51509764	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000250366.6:c.416C>T	p.Pro139Leu	p.P139L	ENST00000250366	NM_012315.1	139	cCa/cTa	0																																																																																																																																																																																																																																												
KLKB1	0	broad.mit.edu	GRCh37	4	187157968	187157968	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-41-3393-01	TCGA-41-3393-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264690.6:c.362T>A	p.Met121Lys	p.M121K	ENST00000264690	NM_000892.3	121	aTg/aAg	0			1			A	M/K	uc003iyy.2	protein_coding	YES	CCDS34120.1			362/1917									ovary(1)	1	c.(361-363)ATG>AAG			PROSITE_profiles:PS50948,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF74,PROSITE_patterns:PS00495,Pfam_domain:PF00024,Gene3D:3.50.4.10,SMART_domains:SM00223	plasma kallikrein B1 precursor				ENSP00000264690		15-May									COSM3409206,COSM3409205	15-May	.		ENST00000264690	Transcript	1		blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	ENSG00000164344	g.chr4:187157968T>A	6371			MODERATE		2.8	medium	getma.org/?cm=msa&ty=f&p=KLKB1_HUMAN&rb=111&re=194&var=M121K	getma.org/pdb.php?prot=KLKB1_HUMAN&from=111&to=194&var=M121K	getma.org/?cm=var&var=hg19,4,187157968,T,A&fts=all	M121K	--	--	1																																		KLKB1_uc011clc.1_5'UTR|KLKB1_uc011cld.1_Missense_Mutation_p.M83K	1,1	1		possibly_damaging(0.88)	p.M121K	NM_000892	NP_000883		deleterious(0)	1,1	KLKB1_HUMAN	KLKB1	HGNC	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	C9JCT1_HUMAN,C9J075_HUMAN,C9IYG8_HUMAN		5	433	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	UPI000050EC06	121			Apple 2.		SNV	KLKB1,missense_variant,p.Met121Lys,ENST00000264690,NM_000892.3;KLKB1,missense_variant,p.Met169Lys,ENST00000511608,;KLKB1,missense_variant,p.Met121Lys,ENST00000513864,;KLKB1,missense_variant,p.Met121Lys,ENST00000428196,;KLKB1,missense_variant,p.Met83Lys,ENST00000414291,;KLKB1,missense_variant,p.Met83Lys,ENST00000446598,;KLKB1,non_coding_transcript_exon_variant,,ENST00000511406,;	uc003iyy.2	c.362T>A	549/2363	2	2			c.362T>A						4	SNP	c.(361-363)ATG>AAG	42	42			ovary(1)	1	Broad	plasma kallikrein B1 precursor			187157968		0.378	ENSG00000164344	8269	g.chr4:187157968T>A	blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity							-27.765885	KEEP	4	1	-1	69	106	4	1	-1	10.442991	69	106	0.031447	1	0	0	0	0	1	0	0	0	--	--		0	A			KLKB1_uc011clc.1_5'UTR|KLKB1_uc011cld.1_Missense_Mutation_p.M83K	255	GBM-41-3393-TP	p.M121K	T	GGAGTTGATATGAGAGGAGTC	NM_000892	NP_000883	187157968	P03952	KLKB1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	5	433	+	A	A		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	Missense_Mutation	121			Apple 2.			
KLRC2	3822	broad.mit.edu	GRCh37	12	10588474	10588474	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0141-01	TCGA-06-0141-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381902.2:c.112A>G	p.Ile38Val	p.I38V	ENST00000381902	NM_002260.3	38	Ata/Gta	0			1			C	I/V	uc001qyh.2	protein_coding	YES	CCDS31745.1			112/696									ovary(2)|skin(1)	3	c.(112-114)ATA>GTA			hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF162	killer cell lectin-like receptor subfamily C,				ENSP00000371327		6-Jan									COSM3398288,COSM3398289	6-Jan	.		ENST00000381902	Transcript			cellular defense response	integral to membrane	sugar binding|transmembrane receptor activity	ENSG00000205809	g.chr12:10588474T>C	6375			MODERATE		1.46	low	getma.org/?cm=msa&ty=f&p=NKG2C_HUMAN&rb=1&re=133&var=I38V	NA	getma.org/?cm=var&var=hg19,12,10588474,T,C&fts=all	I38V	--	--	1																																		KLRC2_uc010she.1_Missense_Mutation_p.I38V|KLRC2_uc001qyk.2_Missense_Mutation_p.I38V	1,1	1		possibly_damaging(0.604)	p.I38V	NM_002261	NP_002252		deleterious(0.01)	1,1	NKG2C_HUMAN	KLRC2	HGNC	Q07444	NKG2E_HUMAN					1	119	-			UPI0000140823	38			Cytoplasmic (Potential).		SNV	KLRC2,missense_variant,p.Ile38Val,ENST00000381902,NM_002260.3;KLRC2,missense_variant,p.Ile38Val,ENST00000381901,;NKG2-E,missense_variant,p.Ile38Val,ENST00000539033,;KLRC2,intron_variant,,ENST00000536833,;KLRC2,upstream_gene_variant,,ENST00000537017,;KLRC2,missense_variant,p.Ile11Val,ENST00000535069,;	uc001qyh.2	c.112A>G	119/1221	3	3			c.112A>G						12	SNP	c.(112-114)ATA>GTA	11	11			ovary(2)|skin(1)	3	Broad	killer cell lectin-like receptor subfamily C,			10588474		0.383	ENSG00000205809	8274	g.chr12:10588474T>C	cellular defense response	integral to membrane	sugar binding|transmembrane receptor activity							-89.85989	KEEP	4	3	-1	236	174	4	3	-1	9.405165	236	174	0.013587	1	0	0	0	0	1	0	0	0	--	--		0	C			KLRC2_uc010she.1_Missense_Mutation_p.I38V|KLRC2_uc001qyk.2_Missense_Mutation_p.I38V	21	GBM-06-0141-TP	p.I38V	T	ACTTGGAATATTTCCTGTTCG	NM_002261	NP_002252	10588474	Q07444	NKG2E_HUMAN	0			1	119	-	C	C			Missense_Mutation	38			Cytoplasmic (Potential).			
KLRC2	3822		GRCh37	12	10587963	10587963	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000381902.2:c.234C>A	p.Ile78=	p.I78=	ENST00000381902	NM_002260.3	78	atC/atA	0																																																																																																																																																																																																																																												
KLRC3	3823	broad.mit.edu	GRCh37	12	10573119	10573119	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0124-01	TCGA-06-0124-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381903.2:c.31G>T	p.Val11Leu	p.V11L	ENST00000381903	NM_007333.2	11	Gtg/Ttg	0			1			A	V/L	uc001qyf.2	protein_coding		CCDS41755.1			31/723									ovary(2)|skin(1)	3	c.(31-33)GTG>TTG			hmmpanther:PTHR22800:SF162,hmmpanther:PTHR22800	killer cell lectin-like receptor subfamily C,				ENSP00000379716		7-Jan									COSM2149325,COSM3398285	7-Jan	.		ENST00000396439	Transcript			cellular defense response	integral to membrane	sugar binding|transmembrane receptor activity	ENSG00000205810	g.chr12:10573119C>A	6376			MODERATE		-1.1	neutral	getma.org/?cm=msa&ty=f&p=NKG2E_HUMAN&rb=1&re=133&var=V11L	NA	getma.org/?cm=var&var=hg19,12,10573119,C,A&fts=all	V11L	--	--	1																																		KLRC3_uc001qyh.2_Intron|KLRC3_uc001qyi.1_Missense_Mutation_p.V11L|KLRC3_uc010shc.1_Missense_Mutation_p.V11L|KLRC3_uc010shd.1_Missense_Mutation_p.V11L	1,1			benign(0.001)	p.V11L	NM_002261	NP_002252		tolerated(1)	1,1	NKG2E_HUMAN	KLRC3	HGNC	Q07444	NKG2E_HUMAN			Q71V82_HUMAN		1	76	-			UPI000013D169	11			Cytoplasmic (Potential).		SNV	KLRC3,missense_variant,p.Val11Leu,ENST00000396439,NM_002261.2;KLRC3,missense_variant,p.Val11Leu,ENST00000381904,;KLRC3,missense_variant,p.Val11Leu,ENST00000381903,NM_007333.2;NKG2-E,intron_variant,,ENST00000539033,;	uc001qyf.2	c.31G>T	76/1028	1	1			c.31G>T						12	SNP	c.(31-33)GTG>TTG	64	64			ovary(2)|skin(1)	3	Broad	killer cell lectin-like receptor subfamily C,			10573119		0.423	ENSG00000205810	8274	g.chr12:10573119C>A	cellular defense response	integral to membrane	sugar binding|transmembrane receptor activity							10.383973	KEEP	28	7	0.2	109	27	28	7	0.2	22.605804	109	27	0.117647	1	0	0	0	0	1	0	0	0	--	--		0	A			KLRC3_uc001qyh.2_Intron|KLRC3_uc001qyi.1_Missense_Mutation_p.V11L|KLRC3_uc010shc.1_Missense_Mutation_p.V11L|KLRC3_uc010shd.1_Missense_Mutation_p.V11L	11	GBM-06-0124-TP	p.V11L	C	GCCAGACTCACTTCTGAGAAG	NM_002261	NP_002252	10573119	Q07444	NKG2E_HUMAN	0			1	76	-	A	A			Missense_Mutation	11			Cytoplasmic (Potential).			
KLRD1	3824	broad.mit.edu	GRCh37	12	10466085	10466085	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-5413-01	TCGA-06-5413-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336164.4:c.392A>T	p.Glu131Val	p.E131V	ENST00000336164	NM_002262.3	131	gAg/gTg	0			1			T	E/V	uc001qxw.3	protein_coding	YES	CCDS8621.1			392/540										0	c.(391-393)GAG>GTG			Superfamily_domains:SSF56436,SMART_domains:SM00034,Pfam_domain:PF00059,Gene3D:3.10.100.10,hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF15,PROSITE_profiles:PS50041	killer cell lectin-like receptor subfamily D,				ENSP00000338130		6-May									COSM2153178	6-May	.		ENST00000336164	Transcript			cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity	ENSG00000134539	g.chr12:10466085A>T	6378			MODERATE		2.08	medium	getma.org/?cm=msa&ty=f&p=KLRD1_HUMAN&rb=78&re=176&var=E131V	getma.org/pdb.php?prot=KLRD1_HUMAN&from=78&to=176&var=E131V	getma.org/?cm=var&var=hg19,12,10466085,A,T&fts=all	E131V	--	--	1																																		KLRD1_uc001qxx.3_Missense_Mutation_p.E131V|KLRD1_uc001qxy.3_Missense_Mutation_p.E100V|KLRD1_uc009zhh.2_Missense_Mutation_p.E110V|KLRD1_uc009zhi.2_3'UTR|KLRD1_uc001qxz.3_Missense_Mutation_p.E132V	1	1		possibly_damaging(0.892)	p.E131V	NM_001114396	NP_001107868		deleterious(0)	1	KLRD1_HUMAN	KLRD1	HGNC	Q13241	KLRD1_HUMAN					6	589	+			UPI00004565D6	131			Extracellular (Potential).|C-type lectin.		SNV	KLRD1,missense_variant,p.Glu132Val,ENST00000381908,;KLRD1,missense_variant,p.Glu131Val,ENST00000336164,NM_002262.3;KLRD1,missense_variant,p.Glu100Val,ENST00000350274,NM_007334.2;KLRD1,missense_variant,p.Glu131Val,ENST00000381907,NM_001114396.1;KLRD1,missense_variant,p.Glu110Val,ENST00000543777,;KLRD1,missense_variant,p.Glu100Val,ENST00000544747,;KLRD1,3_prime_UTR_variant,,ENST00000543420,;KLRD1,upstream_gene_variant,,ENST00000539792,;KLRD1,downstream_gene_variant,,ENST00000538997,;KLRD1,3_prime_UTR_variant,,ENST00000344825,;KLRD1,3_prime_UTR_variant,,ENST00000539374,;KLRD1,non_coding_transcript_exon_variant,,ENST00000540271,;	uc001qxw.3	c.392A>T	652/3258	1	1			c.392A>T						12	SNP	c.(391-393)GAG>GTG	14	14				0	Broad	killer cell lectin-like receptor subfamily D,			10466085		0.418	ENSG00000134539	8276	g.chr12:10466085A>T	cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity							148.043487	KEEP	25	26	-1	30	54	25	26	-1	149.407342	30	54	0.388889	1	0	0	0	0	1	0	0	0	--	--		0	T			KLRD1_uc001qxx.3_Missense_Mutation_p.E131V|KLRD1_uc001qxy.3_Missense_Mutation_p.E100V|KLRD1_uc009zhh.2_Missense_Mutation_p.E110V|KLRD1_uc009zhi.2_3'UTR|KLRD1_uc001qxz.3_Missense_Mutation_p.E132V	96	GBM-06-5413-TP	p.E131V	A	TGGTTGTGGGAGAATGGCTCT	NM_001114396	NP_001107868	10466085	Q13241	KLRD1_HUMAN	0			6	589	+	T	T			Missense_Mutation	131			Extracellular (Potential).|C-type lectin.			
KLRG1	10219	broad.mit.edu	GRCh37	12	9144889	9144889	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0649-01	TCGA-06-0649-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356986.3:c.170del	p.Gln57ArgfsTer24	p.Q57Rfs*24	ENST00000356986		57	cAg/cg	0			1			-	Q/X	uc001qvh.2	protein_coding					170/588									central_nervous_system(1)	1	c.(169-171)CAGfs			Transmembrane_helices:TMhelix,hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF8,Superfamily_domains:SSF56436	killer cell lectin-like receptor subfamily G,				ENSP00000266551		6-Feb									COSM2151484	6-Feb	.		ENST00000266551	Transcript			cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding	ENSG00000139187	g.chr12:9144889delA	6380			HIGH								--	--	1																																		KLRG1_uc001qvg.2_Frame_Shift_Del_p.Q57fs	1				p.Q57fs	NM_005810	NP_005801			1	KLRG1_HUMAN	KLRG1	HGNC	Q96E93	KLRG1_HUMAN			F5H8E3_HUMAN,F5H207_HUMAN		2	181	+			UPI000007378E	57			Helical; Signal-anchor for type II membrane protein; (Potential).		deletion	KLRG1,frameshift_variant,p.Gln57ArgfsTer24,ENST00000266551,NM_005810.3;KLRG1,frameshift_variant,p.Gln57ArgfsTer24,ENST00000356986,;KLRG1,5_prime_UTR_variant,,ENST00000539240,;KLRG1,5_prime_UTR_variant,,ENST00000543895,;RP11-259O18.4,intron_variant,,ENST00000545706,;KLRG1,non_coding_transcript_exon_variant,,ENST00000544226,;KLRG1,intron_variant,,ENST00000538029,;KLRG1,downstream_gene_variant,,ENST00000541957,;	uc001qvh.2	c.170delA	185/1335	5	5			c.170delA						12	DEL	c.(169-171)CAGfs	17	17			central_nervous_system(1)	1	Broad	killer cell lectin-like receptor subfamily G,			9144889		0.398	ENSG00000139187	8278	g.chr12:9144889delA	cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding																				0.25	1	1	0	1	0	0	0	0	0	--	--		0	-			KLRG1_uc001qvg.2_Frame_Shift_Del_p.Q57fs	62	GBM-06-0649-TP	p.Q57fs	A	CTGCTATACCAGTGGATCCTG	NM_005810	NP_005801	9144889	Q96E93	KLRG1_HUMAN	0			2	181	+	-	-			Frame_Shift_Del	57			Helical; Signal-anchor for type II membrane protein; (Potential).			
KLRK1	22914	broad.mit.edu	GRCh37	12	10525755	10525755	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0154-01	TCGA-06-0154-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000240618.6:c.609T>C	p.Cys203=	p.C203=	ENST00000240618	NM_007360.3	203	tgT/tgC	0			1			G	C	uc009zhj.2	protein_coding	YES	CCDS8623.1			609/651										0	c.(607-609)TGT>TGC			Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_profiles:PS50041,hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF14,SMART_domains:SM00034,Superfamily_domains:SSF56436	NKG2-D type II integral membrane protein				ENSP00000240618		8-Aug									COSM2149901	8-Aug	.		ENST00000240618	Transcript			natural killer cell activation|T cell costimulation	integral to plasma membrane	sugar binding	ENSG00000213809	g.chr12:10525755A>G	18788			LOW								--	--	1																																		uc001qya.1_Intron|KLRK1_uc001qyb.2_RNA|KLRK1_uc001qyc.2_Silent_p.C203C|KLRK1_uc009zhk.2_Silent_p.C203C|KLRK1_uc001qyd.2_Silent_p.C203C	1	1			p.C203C	NM_007360	NP_031386			1	NKG2D_HUMAN	KLRK1	HGNC	P26718	NKG2D_HUMAN			Q8WZ67_HUMAN		8	773	-			UPI000013CAB1	203			Extracellular (Potential).|C-type lectin.		SNV	KLRK1,synonymous_variant,p.=,ENST00000240618,NM_007360.3,NM_001199805.1;KLRK1,synonymous_variant,p.=,ENST00000540818,;RP11-277P12.20,intron_variant,,ENST00000500682,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000543572,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000539300,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000543812,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000586581,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000590131,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000585711,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000591546,;KLRK1,non_coding_transcript_exon_variant,,ENST00000544449,;KLRK1,non_coding_transcript_exon_variant,,ENST00000540267,;KLRC4-KLRK1,downstream_gene_variant,,ENST00000588263,;KLRK1,downstream_gene_variant,,ENST00000396451,;	uc009zhj.2	c.609T>C	750/1553	4	4			c.609T>C						12	SNP	c.(607-609)TGT>TGC	18	18				0	Broad	NKG2-D type II integral membrane protein			10525755		0.279	ENSG00000213809	8280	g.chr12:10525755A>G	natural killer cell activation|T cell costimulation	integral to plasma membrane	sugar binding							289.937278	KEEP	54	41	-1	130	94	54	41	-1	297.484821	130	94	0.319231	1	0	0	0	0	0	0	1	0	--	--		0	G			uc001qya.1_Intron|KLRK1_uc001qyb.2_RNA|KLRK1_uc001qyc.2_Silent_p.C203C|KLRK1_uc009zhk.2_Silent_p.C203C|KLRK1_uc001qyd.2_Silent_p.C203C	26	GBM-06-0154-TP	p.C203C	A	TTGGAGTTGAACAGTTTTCTA	NM_007360	NP_031386	10525755	P26718	NKG2D_HUMAN	0			8	773	-	G	G			Silent	203			Extracellular (Potential).|C-type lectin.			
KLRK1	0	broad.mit.edu	GRCh37	12	10539553	10539553	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-32-1991-01	TCGA-32-1991-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000240618.6:c.97C>T	p.Arg33Ter	p.R33*	ENST00000240618	NM_007360.3	33	Cga/Tga	0			1			A	R/*	uc009zhj.2	protein_coding	YES	CCDS8623.1			97/651										0	c.(97-99)CGA>TGA			hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF14	NKG2-D type II integral membrane protein				ENSP00000240618		8-Mar									COSM3398279	8-Mar	.		ENST00000240618	Transcript			natural killer cell activation|T cell costimulation	integral to plasma membrane	sugar binding	ENSG00000213809	g.chr12:10539553G>A	18788			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,12,10539553,G,A&fts=all	R33*	--	--	1																																		uc001qya.1_Intron|KLRK1_uc001qyb.2_RNA|KLRK1_uc001qyc.2_Nonsense_Mutation_p.R33*|KLRK1_uc009zhk.2_Nonsense_Mutation_p.R33*|KLRK1_uc001qyd.2_Nonsense_Mutation_p.R33*	1	1			p.R33*	NM_007360	NP_031386			1	NKG2D_HUMAN	KLRK1	HGNC	P26718	NKG2D_HUMAN			Q8WZ67_HUMAN		3	261	-			UPI000013CAB1	33			Cytoplasmic (Potential).		SNV	KLRK1,stop_gained,p.Arg33Ter,ENST00000240618,NM_007360.3,NM_001199805.1;KLRK1,stop_gained,p.Arg33Ter,ENST00000540818,;RP11-277P12.20,intron_variant,,ENST00000500682,;KLRK1,stop_gained,p.Arg33Ter,ENST00000396451,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000543572,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000539300,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000543812,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000586581,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000590323,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000590131,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000588447,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000588263,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000585711,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000585507,;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000591937,;KLRK1,non_coding_transcript_exon_variant,,ENST00000544449,;KLRC4-KLRK1,non_coding_transcript_exon_variant,,ENST00000539370,;KLRC4-KLRK1,intron_variant,,ENST00000591546,;KLRK1,upstream_gene_variant,,ENST00000540267,;	uc009zhj.2	c.97C>T	238/1553	5	1			c.97C>T						12	SNP	c.(97-99)CGA>TGA	64	64				0	Broad	NKG2-D type II integral membrane protein			10539553		0.343	ENSG00000213809	8280	g.chr12:10539553G>A	natural killer cell activation|T cell costimulation	integral to plasma membrane	sugar binding							-15.994038	KEEP	3	4	-1	56	86	3	4	-1	9.943264	56	86	0.043103	1	0	0	0	0	0	1	0	0	--	--		0	A			uc001qya.1_Intron|KLRK1_uc001qyb.2_RNA|KLRK1_uc001qyc.2_Nonsense_Mutation_p.R33*|KLRK1_uc009zhk.2_Nonsense_Mutation_p.R33*|KLRK1_uc001qyd.2_Nonsense_Mutation_p.R33*	234	GBM-32-1991-TP	p.R33*	G	TTTTGCCATCGTGTTGAAAAA	NM_007360	NP_031386	10539553	P26718	NKG2D_HUMAN	0			3	261	-	A	A			Nonsense_Mutation	33			Cytoplasmic (Potential).			
KMT2A	0	broad.mit.edu	GRCh37	11	118382698	118382698	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-27-2524-01	TCGA-27-2524-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389506.5:c.11095G>C	p.Glu3699Gln	p.E3699Q	ENST00000389506		3699	Gaa/Caa	0			1			C	E/Q	uc001pta.2	protein_coding		CCDS31686.1			11095/11910	T|O		MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	c.(11095-11097)GAA>CAA			PROSITE_profiles:PS51543,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF302,Pfam_domain:PF05965,SMART_domains:SM00542,PIRSF_domain:PIRSF010354	myeloid/lymphoid or mixed-lineage leukemia				ENSP00000374157		31/36									COSM3397450,COSM3397449	31/36	.		ENST00000389506	Transcript	1		apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	ENSG00000118058	g.chr11:118382698G>C	7132			MODERATE		1.91	medium	getma.org/?cm=msa&ty=f&p=MLL1_HUMAN&rb=3666&re=3749&var=E3699Q	NA	getma.org/?cm=var&var=hg19,11,118382698,G,C&fts=all	E3699Q	--	--	1																																		MLL_uc001ptb.2_Missense_Mutation_p.E3702Q	1,1			probably_damaging(0.974)	p.E3699Q	NM_005933	NP_005924			1,1	KMT2A_HUMAN	KMT2A	HGNC	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	Q9UPD0_HUMAN,Q9UM91_HUMAN,Q9HBJ4_HUMAN,B4DIJ7_HUMAN		31	11118	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	UPI00001BE8DF	3699			FYR C-terminal.		SNV	KMT2A,missense_variant,p.Glu3702Gln,ENST00000534358,NM_005933.3,NM_001197104.1;KMT2A,missense_variant,p.Glu3661Gln,ENST00000354520,;KMT2A,missense_variant,p.Glu3699Gln,ENST00000389506,;RP11-770J1.3,non_coding_transcript_exon_variant,,ENST00000532597,;KMT2A,non_coding_transcript_exon_variant,,ENST00000534678,;KMT2A,downstream_gene_variant,,ENST00000534085,;	uc001pta.2	c.11095G>C	11095/13655	4	4			c.11095G>C	T|O		MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL	11	SNP	c.(11095-11097)GAA>CAA	48	48			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	Broad	myeloid/lymphoid or mixed-lineage leukemia			118382698		0.418	ENSG00000118058	9442	g.chr11:118382698G>C	apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			723			723	-38.535284	KEEP	3	0	-1	92	106	3	0	-1	6.959517	92	106	0.017341	1	0	0	0	0	1	0	0	0	--	--		0	C			MLL_uc001ptb.2_Missense_Mutation_p.E3702Q	202	GBM-27-2524-TP	p.E3699Q	G	TAAAGTCCAGGAAGCTCGATC	NM_005933	NP_005924	118382698	Q03164	MLL1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	31	11118	+	C	C	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	Missense_Mutation	3699			FYR C-terminal.			
KMT2A	0	broad.mit.edu	GRCh37	11	118375649	118375649	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-28-5213-01	TCGA-28-5213-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389506.5:c.9033A>C	p.Ser3011=	p.S3011=	ENST00000389506		3011	tcA/tcC	0			1			C	S	uc001pta.2	protein_coding		CCDS31686.1			9033/11910	T|O		MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	c.(9031-9033)TCA>TCC			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF302,PIRSF_domain:PIRSF010354	myeloid/lymphoid or mixed-lineage leukemia				ENSP00000374157		27/36									COSM3397446,COSM3397445	27/36	.		ENST00000389506	Transcript	1		apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	ENSG00000118058	g.chr11:118375649A>C	7132			LOW								--	--	1																																		MLL_uc001ptb.2_Silent_p.S3014S	1,1				p.S3011S	NM_005933	NP_005924			1,1	KMT2A_HUMAN	KMT2A	HGNC	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	Q9UPD0_HUMAN,Q9UM91_HUMAN,Q9HBJ4_HUMAN,B4DIJ7_HUMAN		27	9056	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	UPI00001BE8DF	3011					SNV	KMT2A,synonymous_variant,p.=,ENST00000534358,NM_005933.3,NM_001197104.1;KMT2A,synonymous_variant,p.=,ENST00000354520,;KMT2A,synonymous_variant,p.=,ENST00000389506,;KMT2A,downstream_gene_variant,,ENST00000528278,;KMT2A,upstream_gene_variant,,ENST00000534085,;	uc001pta.2	c.9033A>C	9033/13655	4	4			c.9033A>C	T|O		MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL	11	SNP	c.(9031-9033)TCA>TCC	46	46			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	Broad	myeloid/lymphoid or mixed-lineage leukemia			118375649		0.502	ENSG00000118058	9442	g.chr11:118375649A>C	apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			723			723	113.649328	KEEP	21	24	-1	74	86	21	24	-1	127.255535	74	86	0.221053	1	0	0	0	0	0	0	1	0	--	--		0	C			MLL_uc001ptb.2_Silent_p.S3014S	220	GBM-28-5213-TP	p.S3011S	A	CTTGTGGTTCAGTAGAGCAAG	NM_005933	NP_005924	118375649	Q03164	MLL1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	27	9056	+	C	C	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	Silent	3011						
KMT2A	0	broad.mit.edu	GRCh37	11	118359396	118359396	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-41-4097-01	TCGA-41-4097-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389506.5:c.4400T>C	p.Leu1467Pro	p.L1467P	ENST00000389506		1467	cTg/cCg	0			1			C	L/P	uc001pta.2	protein_coding		CCDS31686.1			4400/11910	T|O		MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	c.(4399-4401)CTG>CCG			PROSITE_profiles:PS50016,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF302,PIRSF_domain:PIRSF010354,SMART_domains:SM00249,Superfamily_domains:SSF57903	myeloid/lymphoid or mixed-lineage leukemia				ENSP00000374157		Nov-36									COSM1351624,COSM1351623	Nov-36	.		ENST00000389506	Transcript	1		apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	ENSG00000118058	g.chr11:118359396T>C	7132			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=MLL1_HUMAN&rb=1395&re=1480&var=L1467P	NA	getma.org/?cm=var&var=hg19,11,118359396,T,C&fts=all	L1467P	--	--	1																																		MLL_uc001ptb.2_Missense_Mutation_p.L1467P|MLL_uc001pte.1_RNA	1,1			possibly_damaging(0.658)	p.L1467P	NM_005933	NP_005924			1,1	KMT2A_HUMAN	KMT2A	HGNC	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	Q9UPD0_HUMAN,Q9UM91_HUMAN,Q9HBJ4_HUMAN,B4DIJ7_HUMAN		11	4423	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	UPI00001BE8DF	1467			PHD-type 1.		SNV	KMT2A,missense_variant,p.Leu1467Pro,ENST00000534358,NM_005933.3,NM_001197104.1;KMT2A,missense_variant,p.Leu1429Pro,ENST00000354520,;KMT2A,missense_variant,p.Leu1467Pro,ENST00000389506,;KMT2A,missense_variant,p.Leu179Pro,ENST00000392873,;KMT2A,downstream_gene_variant,,ENST00000531904,;KMT2A,downstream_gene_variant,,ENST00000420751,;	uc001pta.2	c.4400T>C	4400/13655	3	3			c.4400T>C	T|O		MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL	11	SNP	c.(4399-4401)CTG>CCG	50	50			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	Broad	myeloid/lymphoid or mixed-lineage leukemia			118359396		0.433	ENSG00000118058	9442	g.chr11:118359396T>C	apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			723			723	-22.681036	KEEP	2	1	-1	63	78	2	1	-1	7.629485	63	78	0.024793	1	0	0	0	0	1	0	0	0	--	--		0	C			MLL_uc001ptb.2_Missense_Mutation_p.L1467P|MLL_uc001pte.1_RNA	257	GBM-41-4097-TP	p.L1467P	T	GAGCGCCCTCTGGAGGACCAG	NM_005933	NP_005924	118359396	Q03164	MLL1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	11	4423	+	C	C	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	Missense_Mutation	1467			PHD-type 1.			
KMT2B	9757	broad.mit.edu	GRCh37	19	36212357	36212357	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0221-01	TCGA-06-0221-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222270.7:c.2108G>A	p.Ser703Asn	p.S703N	ENST00000222270	NM_014727.1	703	aGc/aAc	0			1			A	S/N	uc010eei.2	protein_coding					2108/8148									central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	c.(2107-2109)AGC>AAC			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF280,PIRSF_domain:PIRSF010354	myeloid/lymphoid or mixed-lineage leukemia 4				ENSP00000398837		Mar-37									COSM3404139	Mar-37	.		ENST00000420124	Transcript			chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000272333	g.chr19:36212357G>A	15840			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=MLL4_HUMAN&rb=1&re=780&var=S703N	NA	getma.org/?cm=var&var=hg19,19,36212357,G,A&fts=all	S703N	--	--	1																																			1			possibly_damaging(0.827)	p.S703N	NM_014727	NP_055542			1	KMT2B_HUMAN	KMT2B	Uniprot_gn	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)				3	2108	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		UPI00001376B5	703			Pro-rich.		SNV	KMT2B,missense_variant,p.Ser703Asn,ENST00000222270,NM_014727.1;KMT2B,missense_variant,p.Ser703Asn,ENST00000420124,;KMT2B,missense_variant,p.Ala559Thr,ENST00000341701,;ZBTB32,downstream_gene_variant,,ENST00000392197,;ZBTB32,downstream_gene_variant,,ENST00000262630,NM_014383.1;ZBTB32,downstream_gene_variant,,ENST00000426659,;KMT2B,non_coding_transcript_exon_variant,,ENST00000607650,;KMT2B,non_coding_transcript_exon_variant,,ENST00000606995,;ZBTB32,downstream_gene_variant,,ENST00000481182,;	uc010eei.2	c.2108G>A	2108/8469	1	1			c.2108G>A						19	SNP	c.(2107-2109)AGC>AAC	52	52			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	Broad	myeloid/lymphoid or mixed-lineage leukemia 4			36212357		0.662	ENSG00000272333	9445	g.chr19:36212357G>A	chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							4.38447	KEEP	4	1	-1	30	9	4	1	-1	9.510515	30	9	0.114286	1	0	0	0	0	1	0	0	0	--	--		0	A				53	GBM-06-0221-TP	p.S703N	G	AACCACCTCAGCCTGCCTCGA	NM_014727	NP_055542	36212357	Q9UMN6	MLL4_HUMAN	0	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	2108	+	A	A	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		Missense_Mutation	703			Pro-rich.			
KMT2B	9757	broad.mit.edu	GRCh37	19	36222840	36222840	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222270.7:c.5469C>T	p.Asp1823=	p.D1823=	ENST00000222270	NM_014727.1	1823	gaC/gaT	0			1			T	D	uc010eei.2	protein_coding					5469/8148									central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	c.(5467-5469)GAC>GAT			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF280,PIRSF_domain:PIRSF010354	myeloid/lymphoid or mixed-lineage leukemia 4				ENSP00000398837		27/37									COSM3404141	27/37	.		ENST00000420124	Transcript			chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000272333	g.chr19:36222840C>T	15840			LOW								--	--	1																																			1				p.D1823D	NM_014727	NP_055542			1	KMT2B_HUMAN	KMT2B	Uniprot_gn	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)				28	5469	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		UPI00001376B5	1823					SNV	KMT2B,synonymous_variant,p.=,ENST00000420124,;KMT2B,synonymous_variant,p.=,ENST00000222270,NM_014727.1;KMT2B,non_coding_transcript_exon_variant,,ENST00000607650,;KMT2B,upstream_gene_variant,,ENST00000585476,;KMT2B,upstream_gene_variant,,ENST00000592092,;	uc010eei.2	c.5469C>T	5469/8469	2	2			c.5469C>T						19	SNP	c.(5467-5469)GAC>GAT	26	26			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	Broad	myeloid/lymphoid or mixed-lineage leukemia 4			36222840		0.627	ENSG00000272333	9445	g.chr19:36222840C>T	chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							40.709807	KEEP	7	12	-1	19	15	7	12	-1	41.577901	19	15	0.348837	1	0	0	0	0	0	0	1	0	--	--		0	T				65	GBM-06-0743-TP	p.D1823D	C	CCCCACTGGACACAGATGTTC	NM_014727	NP_055542	36222840	Q9UMN6	MLL4_HUMAN	0	LUSC - Lung squamous cell carcinoma(66;0.0515)		28	5469	+	T	T	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		Silent	1823						
KMT2B	0	broad.mit.edu	GRCh37	19	36219962	36219962	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000420124.1:c.4764G>A	p.Gly1588=	p.G1588=	ENST00000420124		1588	ggG/ggA	0			1			A	G	uc010eei.2	protein_coding					4764/8148									central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	c.(4762-4764)GGG>GGA			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF280,PIRSF_domain:PIRSF010354	myeloid/lymphoid or mixed-lineage leukemia 4				ENSP00000398837		21/37									COSM3404140	21/37	.		ENST00000420124	Transcript			chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000272333	g.chr19:36219962G>A	15840			LOW								--	--	1																																			1				p.G1588G	NM_014727	NP_055542			1	KMT2B_HUMAN	KMT2B	Uniprot_gn	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)				22	4764	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		UPI00001376B5	1588					SNV	KMT2B,synonymous_variant,p.=,ENST00000222270,NM_014727.1;KMT2B,synonymous_variant,p.=,ENST00000420124,;KMT2B,non_coding_transcript_exon_variant,,ENST00000607650,;KMT2B,upstream_gene_variant,,ENST00000592092,;	uc010eei.2	c.4764G>A	4764/8469	1	1			c.4764G>A						19	SNP	c.(4762-4764)GGG>GGA	49	49			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	Broad	myeloid/lymphoid or mixed-lineage leukemia 4			36219962		0.607	ENSG00000272333	9445	g.chr19:36219962G>A	chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							154.027711	KEEP	24	31	-1	34	44	24	31	-1	154.894049	34	44	0.409836	1	0	0	0	0	0	0	1	0	--	--		0	A				131	GBM-12-5301-TP	p.G1588G	G	TCAAATACGGGGATGCAGACT	NM_014727	NP_055542	36219962	Q9UMN6	MLL4_HUMAN	0	LUSC - Lung squamous cell carcinoma(66;0.0515)		22	4764	+	A	A	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		Silent	1588						
KMT2B	0	broad.mit.edu	GRCh37	19	36212329	36212329	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1829-01	TCGA-14-1829-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000420124.1:c.2080C>T	p.Arg694Trp	p.R694W	ENST00000420124		694	Cgg/Tgg	0	T:0		1			T	R/W	uc010eei.2	protein_coding					2080/8148									central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	c.(2080-2082)CGG>TGG			Low_complexity_(Seg):seg,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF280,PIRSF_domain:PIRSF010354	myeloid/lymphoid or mixed-lineage leukemia 4			T:0.0001	ENSP00000398837		Mar-37	2.48E-05					5.34E-05			rs372982681,COSM3404138	Mar-37	.		ENST00000420124	Transcript			chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000272333	g.chr19:36212329C>T	15840			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=MLL4_HUMAN&rb=1&re=780&var=R694W	NA	getma.org/?cm=var&var=hg19,19,36212329,C,T&fts=all	R694W	--	--	1																																			0,1			probably_damaging(0.973)	p.R694W	NM_014727	NP_055542			0,1	KMT2B_HUMAN	KMT2B	Uniprot_gn	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)				3	2080	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		UPI00001376B5	694			Pro-rich.		SNV	KMT2B,missense_variant,p.Arg694Trp,ENST00000222270,NM_014727.1;KMT2B,missense_variant,p.Arg694Trp,ENST00000420124,;KMT2B,synonymous_variant,p.=,ENST00000341701,;ZBTB32,downstream_gene_variant,,ENST00000392197,;ZBTB32,downstream_gene_variant,,ENST00000262630,NM_014383.1;ZBTB32,downstream_gene_variant,,ENST00000426659,;KMT2B,non_coding_transcript_exon_variant,,ENST00000607650,;KMT2B,non_coding_transcript_exon_variant,,ENST00000606995,;ZBTB32,downstream_gene_variant,,ENST00000481182,;	uc010eei.2	c.2080C>T	2080/8469	2	2			c.2080C>T						19	SNP	c.(2080-2082)CGG>TGG	17	17			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	Broad	myeloid/lymphoid or mixed-lineage leukemia 4			36212329		0.642	ENSG00000272333	9445	g.chr19:36212329C>T	chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							28.183623	KEEP	6	5	-1	11	13	6	5	-1	28.772872	11	13	0.354839	1	0	0	0	0	1	0	0	0	--	--		0	T				149	GBM-14-1829-TP	p.R694W	C	GCCTGAGCCTCGGGCAGTGGG	NM_014727	NP_055542	36212329	Q9UMN6	MLL4_HUMAN	0	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	2080	+	T	T	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		Missense_Mutation	694			Pro-rich.			
KMT2B	0	broad.mit.edu	GRCh37	19	36224327	36224327	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-26-5136-01	TCGA-26-5136-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000420124.1:c.6881delC	p.Pro2294HisfsTer31	p.P2294Hfs*31	ENST00000420124		2293	Ccc/cc	0			1			-	P/X	uc010eei.2	protein_coding					6877/8148									central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	c.(6877-6879)CCCfs			Low_complexity_(Seg):seg,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF280,PIRSF_domain:PIRSF010354	myeloid/lymphoid or mixed-lineage leukemia 4				ENSP00000398837		28/37										28/37	.		ENST00000420124	Transcript			chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000272333	g.chr19:36224327delC	15840	4		HIGH								--	--	1																																							p.P2293fs	NM_014727	NP_055542				KMT2B_HUMAN	KMT2B	Uniprot_gn	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)				29	6877	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		UPI00001376B5	2293					deletion	KMT2B,frameshift_variant,p.Pro2294HisfsTer31,ENST00000420124,;KMT2B,frameshift_variant,p.Pro2294HisfsTer31,ENST00000222270,NM_014727.1;KMT2B,non_coding_transcript_exon_variant,,ENST00000607650,;KMT2B,non_coding_transcript_exon_variant,,ENST00000592092,;KMT2B,upstream_gene_variant,,ENST00000585476,;KMT2B,upstream_gene_variant,,ENST00000586308,;	uc010eei.2	c.6877delC	6877/8469	5	5			c.6877delC						19	DEL	c.(6877-6879)CCCfs	19	19			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	Broad	myeloid/lymphoid or mixed-lineage leukemia 4			36224327		0.682	ENSG00000272333	9445	g.chr19:36224327delC	chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding																				0.43	1	1	0	1	0	0	0	0	0	--	--		0	-				185	GBM-26-5136-TP	p.P2293fs	C	GCCAGCACCTCCCCCATACAA	NM_014727	NP_055542	36224327	Q9UMN6	MLL4_HUMAN	0	LUSC - Lung squamous cell carcinoma(66;0.0515)		29	6877	+	-	-	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		Frame_Shift_Del	2293						
KMT2B	0	broad.mit.edu	GRCh37	19	36223857	36223857	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-32-4213-01	TCGA-32-4213-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000420124.1:c.6407T>A	p.Leu2136His	p.L2136H	ENST00000420124		2136	cTc/cAc	0			1			A	L/H	uc010eei.2	protein_coding					6407/8148									central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	c.(6406-6408)CTC>CAC			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF280,PIRSF_domain:PIRSF010354	myeloid/lymphoid or mixed-lineage leukemia 4				ENSP00000398837		28/37									COSM3404142	28/37	.		ENST00000420124	Transcript			chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000272333	g.chr19:36223857T>A	15840			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=MLL4_HUMAN&rb=1983&re=2182&var=L2136H	NA	getma.org/?cm=var&var=hg19,19,36223857,T,A&fts=all	L2136H	--	--	1																																			1			possibly_damaging(0.839)	p.L2136H	NM_014727	NP_055542			1	KMT2B_HUMAN	KMT2B	Uniprot_gn	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)				29	6407	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		UPI00001376B5	2136					SNV	KMT2B,missense_variant,p.Leu2136His,ENST00000222270,NM_014727.1;KMT2B,missense_variant,p.Leu2136His,ENST00000420124,;KMT2B,non_coding_transcript_exon_variant,,ENST00000607650,;KMT2B,upstream_gene_variant,,ENST00000585476,;KMT2B,upstream_gene_variant,,ENST00000592092,;KMT2B,upstream_gene_variant,,ENST00000586308,;	uc010eei.2	c.6407T>A	6407/8469	1	1			c.6407T>A						19	SNP	c.(6406-6408)CTC>CAC	54	54			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	Broad	myeloid/lymphoid or mixed-lineage leukemia 4			36223857		0.662	ENSG00000272333	9445	g.chr19:36223857T>A	chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							6.052052	KEEP	0	2	-1	6	3	0	2	-1	6.685903	6	3	0.222222	1	0	0	0	0	1	0	0	0	--	--		0	A				247	GBM-32-4213-TP	p.L2136H	T	GAGGAGTCACTCCCCCCGGCG	NM_014727	NP_055542	36223857	Q9UMN6	MLL4_HUMAN	0	LUSC - Lung squamous cell carcinoma(66;0.0515)		29	6407	+	A	A	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		Missense_Mutation	2136						
KMT2B	0	broad.mit.edu	GRCh37	19	36210728	36210728	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-41-2575-01	TCGA-41-2575-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000420124.1:c.479C>A	p.Pro160His	p.P160H	ENST00000420124		160	cCc/cAc	0			1			A	P/H	uc010eei.2	protein_coding					479/8148									central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	c.(478-480)CCC>CAC			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF280,PIRSF_domain:PIRSF010354	myeloid/lymphoid or mixed-lineage leukemia 4				ENSP00000398837		Mar-37									COSM3404137	Mar-37	.		ENST00000420124	Transcript			chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000272333	g.chr19:36210728C>A	15840			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=MLL4_HUMAN&rb=1&re=780&var=P160H	NA	getma.org/?cm=var&var=hg19,19,36210728,C,A&fts=all	P160H	--	--	1																																			1			unknown(0)	p.P160H	NM_014727	NP_055542			1	KMT2B_HUMAN	KMT2B	Uniprot_gn	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)				3	479	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		UPI00001376B5	160					SNV	KMT2B,missense_variant,p.Pro160His,ENST00000420124,;KMT2B,missense_variant,p.Pro160His,ENST00000222270,NM_014727.1;KMT2B,missense_variant,p.Pro160His,ENST00000341701,;ZBTB32,downstream_gene_variant,,ENST00000392197,;ZBTB32,downstream_gene_variant,,ENST00000262630,NM_014383.1;ZBTB32,downstream_gene_variant,,ENST00000426659,;KMT2B,non_coding_transcript_exon_variant,,ENST00000607650,;KMT2B,non_coding_transcript_exon_variant,,ENST00000606995,;ZBTB32,downstream_gene_variant,,ENST00000481182,;	uc010eei.2	c.479C>A	479/8469	1	1			c.479C>A						19	SNP	c.(478-480)CCC>CAC	63	63			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	Broad	myeloid/lymphoid or mixed-lineage leukemia 4			36210728		0.612	ENSG00000272333	9445	g.chr19:36210728C>A	chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							270.57725	KEEP	53	61	0.535087719	100	67	53	61	0.535087719	272.99129	100	67	0.393443	1	0	0	0	0	1	0	0	0	--	--		0	A				253	GBM-41-2575-TP	p.P160H	C	AAGACGACCCCCCTTCCTCCT	NM_014727	NP_055542	36210728	Q9UMN6	MLL4_HUMAN	0	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	479	+	A	A	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		Missense_Mutation	160						
KMT2C	58508	broad.mit.edu	GRCh37	7	151962220	151962220	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0219-01	TCGA-06-0219-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262189.6:c.1087G>T	p.Gly363Cys	p.G363C	ENST00000262189	NM_170606.2	363	Ggt/Tgt	0			1			A	G/C	uc003wla.2	protein_coding	YES	CCDS5931.1			1087/14736	N				medulloblastoma				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	c.(1087-1089)GGT>TGT			PROSITE_profiles:PS50089,PROSITE_profiles:PS50016,Gene3D:3.30.40.10,SMART_domains:SM00184,SMART_domains:SM00249,Superfamily_domains:SSF57903	myeloid/lymphoid or mixed-lineage leukemia 3				ENSP00000262189		Aug-59									COSM3411843,COSM3411842	Aug-59	.		ENST00000262189	Transcript			intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	ENSG00000055609	g.chr7:151962220C>A	13726			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=MLL3_HUMAN&rb=332&re=389&var=G363C	getma.org/pdb.php?prot=MLL3_HUMAN&from=332&to=389&var=G363C	getma.org/?cm=var&var=hg19,7,151962220,C,A&fts=all	G363C	--	--	1																																			1,1	1		probably_damaging(1)	p.G363C	NM_170606	NP_733751			1,1	KMT2C_HUMAN	KMT2C	HGNC	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN		8	1306	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	UPI0000141B9F	363			PHD-type 1.|RING-type.		SNV	KMT2C,missense_variant,p.Gly363Cys,ENST00000355193,;KMT2C,missense_variant,p.Gly363Cys,ENST00000262189,NM_170606.2;KMT2C,missense_variant,p.Gly363Cys,ENST00000558084,;	uc003wla.2	c.1087G>T	1306/16862	1	1			c.1087G>T	N				medulloblastoma	7	SNP	c.(1087-1089)GGT>TGT	61	61			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	Broad	myeloid/lymphoid or mixed-lineage leukemia 3			151962220		0.448	ENSG00000055609	9444	g.chr7:151962220C>A	intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	Colon(68;14 1149 1884 27689 34759)		1780	Colon(68;14 1149 1884 27689 34759)		1780	-58.169893	KEEP	14	15	0.517241379	262	295	14	15	0.517241379	45.024639	262	295	0.046709	1	0	0	0	0	1	0	0	0	--	--		0	A				52	GBM-06-0219-TP	p.G363C	C	TAGTGCTGACCACAAGTAGTA	NM_170606	NP_733751	151962220	Q8NEZ4	MLL3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	8	1306	-	A	A	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	Missense_Mutation	363			PHD-type 1.|RING-type.			
KMT2C	58508	broad.mit.edu	GRCh37	7	151849845	151849845	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0237-01	TCGA-06-0237-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262189.6:c.12471A>G	p.Leu4157=	p.L4157=	ENST00000262189	NM_170606.2	4157	ttA/ttG	0			1			C	L	uc003wla.2	protein_coding	YES	CCDS5931.1			12471/14736	N				medulloblastoma				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	c.(12469-12471)TTA>TTG			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF305	myeloid/lymphoid or mixed-lineage leukemia 3				ENSP00000262189		49/59									COSM3411823,COSM3411822	49/59	.		ENST00000262189	Transcript			intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	ENSG00000055609	g.chr7:151849845T>C	13726			LOW								--	--	1																																		MLL3_uc003wkz.2_Silent_p.L3275L|MLL3_uc003wkx.2_Silent_p.L315L|MLL3_uc003wky.2_Silent_p.L1721L	1,1	1			p.L4157L	NM_170606	NP_733751			1,1	KMT2C_HUMAN	KMT2C	HGNC	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN		49	12690	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	UPI0000141B9F	4157					SNV	KMT2C,synonymous_variant,p.=,ENST00000355193,;KMT2C,synonymous_variant,p.=,ENST00000262189,NM_170606.2;KMT2C,synonymous_variant,p.=,ENST00000360104,;KMT2C,synonymous_variant,p.=,ENST00000424877,;KMT2C,downstream_gene_variant,,ENST00000418061,;KMT2C,downstream_gene_variant,,ENST00000485241,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,;	uc003wla.2	c.12471A>G	12690/16862	3	3			c.12471A>G	N				medulloblastoma	7	SNP	c.(12469-12471)TTA>TTG	62	62			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	Broad	myeloid/lymphoid or mixed-lineage leukemia 3			151849845		0.498	ENSG00000055609	9444	g.chr7:151849845T>C	intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	Colon(68;14 1149 1884 27689 34759)		1780	Colon(68;14 1149 1884 27689 34759)		1780	-50.325578	KEEP	10	4	-1	203	168	10	4	-1	30.617473	203	168	0.037249	1	0	0	0	0	0	0	1	0	--	--		0	C			MLL3_uc003wkz.2_Silent_p.L3275L|MLL3_uc003wkx.2_Silent_p.L315L|MLL3_uc003wky.2_Silent_p.L1721L	54	GBM-06-0237-TP	p.L4157L	T	AAGAGCTCACTAATCTGGGAG	NM_170606	NP_733751	151849845	Q8NEZ4	MLL3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	49	12690	-	C	C	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	Silent	4157						
KMT2C	58508	broad.mit.edu	GRCh37	7	151927093	151927093	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0238-01	TCGA-06-0238-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262189.6:c.2891G>T	p.Gly964Val	p.G964V	ENST00000262189	NM_170606.2	964	gGc/gTc	0			1			A	G/V	uc003wla.2	protein_coding	YES	CCDS5931.1			2891/14736	N				medulloblastoma				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	c.(2890-2892)GGC>GTC			PROSITE_profiles:PS50016,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF305,Gene3D:3.30.40.10,SMART_domains:SM00184,SMART_domains:SM00249,Superfamily_domains:SSF57903	myeloid/lymphoid or mixed-lineage leukemia 3				ENSP00000262189		18/59									COSM3411833,COSM3411832	18/59	.		ENST00000262189	Transcript			intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	ENSG00000055609	g.chr7:151927093C>A	13726			MODERATE		2.325	medium	getma.org/?cm=msa&ty=f&p=MLL3_HUMAN&rb=959&re=1010&var=G964V	NA	getma.org/?cm=var&var=hg19,7,151927093,C,A&fts=all	G964V	--	--	1																																		MLL3_uc003wkz.2_Missense_Mutation_p.G25V	1,1	1		probably_damaging(1)	p.G964V	NM_170606	NP_733751			1,1	KMT2C_HUMAN	KMT2C	HGNC	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN		18	3110	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	UPI0000141B9F	964			PHD-type 4.		SNV	KMT2C,missense_variant,p.Gly964Val,ENST00000355193,;KMT2C,missense_variant,p.Gly964Val,ENST00000262189,NM_170606.2;KMT2C,missense_variant,p.Gly120Val,ENST00000418673,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,;	uc003wla.2	c.2891G>T	3110/16862	2	2			c.2891G>T	N				medulloblastoma	7	SNP	c.(2890-2892)GGC>GTC	20	20			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	Broad	myeloid/lymphoid or mixed-lineage leukemia 3			151927093		0.348	ENSG00000055609	9444	g.chr7:151927093C>A	intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	Colon(68;14 1149 1884 27689 34759)	p.G25D(LOUCY-Tumor)	1780	Colon(68;14 1149 1884 27689 34759)	p.G25D(LOUCY-Tumor)	1780	-36.582265	KEEP	32	23	0.418181818	470	474	32	23	0.418181818	57.01441	470	474	0.058824	1	0	0	0	0	1	0	0	0	--	--		0	A			MLL3_uc003wkz.2_Missense_Mutation_p.G25V	55	GBM-06-0238-TP	p.G964V	C	GCCAAAACTGCCACAAACTAC	NM_170606	NP_733751	151927093	Q8NEZ4	MLL3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	18	3110	-	A	A	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	Missense_Mutation	964			PHD-type 4.			
KMT2C	58508	broad.mit.edu	GRCh37	7	151878185	151878185	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262189.6:c.6760G>A	p.Ala2254Thr	p.A2254T	ENST00000262189	NM_170606.2	2254	Gca/Aca	0			1			T	A/T	uc003wla.2	protein_coding	YES	CCDS5931.1			6760/14736	N				medulloblastoma				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	c.(6760-6762)GCA>ACA			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF305	myeloid/lymphoid or mixed-lineage leukemia 3				ENSP00000262189		36/59									COSM485089,COSM485088	36/59	.		ENST00000262189	Transcript			intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	ENSG00000055609	g.chr7:151878185C>T	13726			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=MLL3_HUMAN&rb=2061&re=2260&var=A2254T	NA	getma.org/?cm=var&var=hg19,7,151878185,C,T&fts=all	A2254T	--	--	1																																		MLL3_uc003wkz.2_Missense_Mutation_p.A1315T	1,1	1		benign(0.005)	p.A2254T	NM_170606	NP_733751			1,1	KMT2C_HUMAN	KMT2C	HGNC	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN		36	6979	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	UPI0000141B9F	2254			Pro-rich.		SNV	KMT2C,missense_variant,p.Ala2254Thr,ENST00000355193,;KMT2C,missense_variant,p.Ala2254Thr,ENST00000262189,NM_170606.2;KMT2C,intron_variant,,ENST00000558665,;KMT2C,upstream_gene_variant,,ENST00000360104,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,;	uc003wla.2	c.6760G>A	6979/16862	2	2			c.6760G>A	N				medulloblastoma	7	SNP	c.(6760-6762)GCA>ACA	24	24			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	Broad	myeloid/lymphoid or mixed-lineage leukemia 3			151878185		0.527	ENSG00000055609	9444	g.chr7:151878185C>T	intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	Colon(68;14 1149 1884 27689 34759)		1780	Colon(68;14 1149 1884 27689 34759)		1780	-35.744487	KEEP	2	3	-1	71	119	2	3	-1	8.033085	71	119	0.028249	1	0	0	0	0	1	0	0	0	--	--		0	T			MLL3_uc003wkz.2_Missense_Mutation_p.A1315T	102	GBM-06-5858-TP	p.A2254T	C	CGGTTTTGTGCTGCTTGCAGG	NM_170606	NP_733751	151878185	Q8NEZ4	MLL3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	36	6979	-	T	T	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	Missense_Mutation	2254			Pro-rich.			
KMT2C	0	broad.mit.edu	GRCh37	7	151970848	151970848	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-5958-01	TCGA-19-5958-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262189.6:c.954G>T	p.Gln318His	p.Q318H	ENST00000262189	NM_170606.2	318	caG/caT	0			1			A	Q/H	uc003wla.2	protein_coding	YES	CCDS5931.1			954/14736	N				medulloblastoma				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	c.(952-954)CAG>CAT			Pfam_domain:PF13771,SMART_domains:SM00249	myeloid/lymphoid or mixed-lineage leukemia 3				ENSP00000262189		Jul-59									COSM3411845,COSM3411844	Jul-59	.		ENST00000262189	Transcript			intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	ENSG00000055609	g.chr7:151970848C>A	13726			MODERATE		2.615	medium	getma.org/?cm=msa&ty=f&p=MLL3_HUMAN&rb=252&re=331&var=Q318H	NA	getma.org/?cm=var&var=hg19,7,151970848,C,A&fts=all	Q318H	--	--	1																																			1,1	1		benign(0.119)	p.Q318H	NM_170606	NP_733751			1,1	KMT2C_HUMAN	KMT2C	HGNC	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN		7	1173	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	UPI0000141B9F	318					SNV	KMT2C,missense_variant,p.Gln318His,ENST00000355193,;KMT2C,missense_variant,p.Gln318His,ENST00000262189,NM_170606.2;KMT2C,missense_variant,p.Gln318His,ENST00000558084,;	uc003wla.2	c.954G>T	1173/16862	1	1			c.954G>T	N				medulloblastoma	7	SNP	c.(952-954)CAG>CAT	55	55			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	Broad	myeloid/lymphoid or mixed-lineage leukemia 3			151970848		0.423	ENSG00000055609	9444	g.chr7:151970848C>A	intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	Colon(68;14 1149 1884 27689 34759)	p.Q318Q(LNCAPCLONEFGC-Tumor)|p.Q318Q(NCIH2106-Tumor)	1780	Colon(68;14 1149 1884 27689 34759)	p.Q318Q(LNCAPCLONEFGC-Tumor)|p.Q318Q(NCIH2106-Tumor)	1780	-41.900039	KEEP	10	7	0.411764706	165	198	10	7	0.411764706	31.324541	165	198	0.047619	1	0	0	0	0	1	0	0	0	--	--		0	A				176	GBM-19-5958-TP	p.Q318H	C	GACTGAAATCCTGAAAGGTGC	NM_170606	NP_733751	151970848	Q8NEZ4	MLL3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	7	1173	-	A	A	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	Missense_Mutation	318						
KMT2C	0	broad.mit.edu	GRCh37	7	151904459	151904459	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-28-5219-01	TCGA-28-5219-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262189.6:c.3767C>G	p.Ala1256Gly	p.A1256G	ENST00000262189	NM_170606.2	1256	gCt/gGt	0			1			C	A/G	uc003wla.2	protein_coding	YES	CCDS5931.1			3767/14736	N				medulloblastoma				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	c.(3766-3768)GCT>GGT			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF305	myeloid/lymphoid or mixed-lineage leukemia 3				ENSP00000262189		24/59									COSM3411829,COSM3411828	24/59	.		ENST00000262189	Transcript			intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	ENSG00000055609	g.chr7:151904459G>C	13726			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=MLL3_HUMAN&rb=1061&re=1260&var=A1256G	NA	getma.org/?cm=var&var=hg19,7,151904459,G,C&fts=all	A1256G	--	--	1																																		MLL3_uc003wkz.2_Missense_Mutation_p.A317G	1,1	1		benign(0.14)	p.A1256G	NM_170606	NP_733751			1,1	KMT2C_HUMAN	KMT2C	HGNC	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN		24	3986	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	UPI0000141B9F	1256					SNV	KMT2C,missense_variant,p.Ala1256Gly,ENST00000355193,;KMT2C,missense_variant,p.Ala1256Gly,ENST00000262189,NM_170606.2;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,;	uc003wla.2	c.3767C>G	3986/16862	3	3			c.3767C>G	N				medulloblastoma	7	SNP	c.(3766-3768)GCT>GGT	7	7			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	Broad	myeloid/lymphoid or mixed-lineage leukemia 3			151904459		0.393	ENSG00000055609	9444	g.chr7:151904459G>C	intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	Colon(68;14 1149 1884 27689 34759)		1780	Colon(68;14 1149 1884 27689 34759)		1780	161.16983	KEEP	41	39	-1	190	175	41	39	-1	202.413913	190	175	0.168766	1	0	0	0	0	1	0	0	0	--	--		0	C			MLL3_uc003wkz.2_Missense_Mutation_p.A317G	225	GBM-28-5219-TP	p.A1256G	G	ATCATCCACAGCTTCCCGCTC	NM_170606	NP_733751	151904459	Q8NEZ4	MLL3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	24	3986	-	C	C	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	Missense_Mutation	1256						
KMT2C	0	broad.mit.edu	GRCh37	7	151945049	151945049	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-41-4097-01	TCGA-41-4097-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262189.6:c.2470G>C	p.Gly824Arg	p.G824R	ENST00000262189	NM_170606.2	824	Ggc/Cgc	0			1			G	G/R	uc003wla.2	protein_coding	YES	CCDS5931.1			2470/14736	N				medulloblastoma				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	c.(2470-2472)GGC>CGC				myeloid/lymphoid or mixed-lineage leukemia 3				ENSP00000262189		14/59									COSM3411835,COSM3411834	14/59	.		ENST00000262189	Transcript			intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	ENSG00000055609	g.chr7:151945049C>G	13726			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=MLL3_HUMAN&rb=639&re=838&var=G824R	NA	getma.org/?cm=var&var=hg19,7,151945049,C,G&fts=all	G824R	--	--	1																																			1,1	1		probably_damaging(1)	p.G824R	NM_170606	NP_733751			1,1	KMT2C_HUMAN	KMT2C	HGNC	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN		14	2689	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	UPI0000141B9F	824					SNV	KMT2C,missense_variant,p.Gly824Arg,ENST00000355193,;KMT2C,missense_variant,p.Gly824Arg,ENST00000262189,NM_170606.2;KMT2C,missense_variant,p.Gly20Arg,ENST00000418673,;KMT2C,missense_variant,p.Gly824Arg,ENST00000558084,;	uc003wla.2	c.2470G>C	2689/16862	3	3			c.2470G>C	N				medulloblastoma	7	SNP	c.(2470-2472)GGC>CGC	56	56			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	Broad	myeloid/lymphoid or mixed-lineage leukemia 3			151945049		0.408	ENSG00000055609	9444	g.chr7:151945049C>G	intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	Colon(68;14 1149 1884 27689 34759)		1780	Colon(68;14 1149 1884 27689 34759)		1780	2.099487	KEEP	24	28	-1	292	321	24	28	-1	110.101589	292	321	0.08	1	0	0	0	0	1	0	0	0	--	--		0	G				257	GBM-41-4097-TP	p.G824R	C	TTACCCATGCCAATTTTTGGA	NM_170606	NP_733751	151945049	Q8NEZ4	MLL3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	14	2689	-	G	G	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	Missense_Mutation	824						
KMT2C	0	broad.mit.edu	GRCh37	7	151921652	151921652	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-76-6192-01	TCGA-76-6192-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262189.6:c.3026T>G	p.Val1009Gly	p.V1009G	ENST00000262189	NM_170606.2	1009	gTg/gGg	0			1			C	V/G	uc003wla.2	protein_coding	YES	CCDS5931.1			3026/14736	N				medulloblastoma				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	c.(3025-3027)GTG>GGG			PROSITE_profiles:PS50016,PROSITE_profiles:PS50016,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF305,Pfam_domain:PF00628,Gene3D:3.30.40.10,SMART_domains:SM00249,Superfamily_domains:SSF57903	myeloid/lymphoid or mixed-lineage leukemia 3				ENSP00000262189		19/59									COSM3411831,COSM3411830	19/59	.		ENST00000262189	Transcript			intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	ENSG00000055609	g.chr7:151921652A>C	13726			MODERATE		2.965	medium	getma.org/?cm=msa&ty=f&p=MLL3_HUMAN&rb=1009&re=1060&var=V1009G	getma.org/pdb.php?prot=MLL3_HUMAN&from=1009&to=1060&var=V1009G	getma.org/?cm=var&var=hg19,7,151921652,A,C&fts=all	V1009G	--	--	1																																		MLL3_uc003wkz.2_Missense_Mutation_p.V70G	1,1	1		probably_damaging(0.995)	p.V1009G	NM_170606	NP_733751			1,1	KMT2C_HUMAN	KMT2C	HGNC	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN		19	3245	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	UPI0000141B9F	1009			PHD-type 5.|PHD-type 4.		SNV	KMT2C,missense_variant,p.Val1009Gly,ENST00000355193,;KMT2C,missense_variant,p.Val1009Gly,ENST00000262189,NM_170606.2;KMT2C,missense_variant,p.Val165Gly,ENST00000418673,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,;KMT2C,upstream_gene_variant,,ENST00000489110,;	uc003wla.2	c.3026T>G	3245/16862	4	4			c.3026T>G	N				medulloblastoma	7	SNP	c.(3025-3027)GTG>GGG	36	36			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	Broad	myeloid/lymphoid or mixed-lineage leukemia 3			151921652		0.448	ENSG00000055609	9444	g.chr7:151921652A>C	intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	Colon(68;14 1149 1884 27689 34759)		1780	Colon(68;14 1149 1884 27689 34759)		1780	8.57994	KEEP	2	3	-1	10	29	2	3	-1	12.493027	10	29	0.133333	1	0	0	0	0	1	0	0	0	--	--		0	C			MLL3_uc003wkz.2_Missense_Mutation_p.V70G	275	GBM-76-6192-TP	p.V1009G	A	GGCCTCACACACAGTGCACTC	NM_170606	NP_733751	151921652	Q8NEZ4	MLL3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	19	3245	-	C	C	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	Missense_Mutation	1009			PHD-type 5.|PHD-type 4.			
KMT2C	58508		GRCh37	7	151945253	151945253	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000262189.6:c.2266G>A	p.Gly756Arg	p.G756R	ENST00000262189	NM_170606.2	756	Gga/Aga	0																																																																																																																																																																																																																																												
KMT2D	8085	broad.mit.edu	GRCh37	12	49416373	49416373	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301067.7:c.16338G>C	p.Gln5446His	p.Q5446H	ENST00000301067	NM_003482.3	5446	caG/caC	0			1			G	Q/H	uc001rta.3	protein_coding	YES	CCDS44873.1			16338/16614	N|F|Mis				medulloblastoma|renal				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41	c.(16336-16338)CAG>CAC			Gene3D:2.170.270.10,Pfam_domain:PF00856,PROSITE_profiles:PS50280,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324,SMART_domains:SM00317,Superfamily_domains:SSF82199	myeloid/lymphoid or mixed-lineage leukemia 2				ENSP00000301067		51/54									COSM3398765,COSM3398764	51/54	.		ENST00000301067	Transcript	1		chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	ENSG00000167548	g.chr12:49416373C>G	7133			MODERATE		1.635	low	getma.org/?cm=msa&ty=f&p=MLL2_HUMAN&rb=5408&re=5513&var=Q5446H	getma.org/pdb.php?prot=MLL2_HUMAN&from=5408&to=5513&var=Q5446H	getma.org/?cm=var&var=hg19,12,49416373,C,G&fts=all	Q5446H	--	--	1				HNSCC(34;0.089)																															1,1	1		unknown(0)	p.Q5446H	NM_003482	NP_003473			1,1	KMT2D_HUMAN	KMT2D	HGNC	O14686	MLL2_HUMAN			Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN		51	16338	-			UPI0000EE84D6	5446			SET.		SNV	KMT2D,missense_variant,p.Gln5446His,ENST00000301067,NM_003482.3;KMT2D,missense_variant,p.Gln127His,ENST00000526209,;PRKAG1,upstream_gene_variant,,ENST00000548065,;PRKAG1,upstream_gene_variant,,ENST00000395170,NM_002733.4;PRKAG1,upstream_gene_variant,,ENST00000316299,NM_001206709.1;PRKAG1,upstream_gene_variant,,ENST00000547306,;PRKAG1,upstream_gene_variant,,ENST00000552212,NM_001206710.1;PRKAG1,upstream_gene_variant,,ENST00000552463,;PRKAG1,upstream_gene_variant,,ENST00000551696,;PRKAG1,upstream_gene_variant,,ENST00000548950,;PRKAG1,upstream_gene_variant,,ENST00000551121,;PRKAG1,upstream_gene_variant,,ENST00000547082,;PRKAG1,upstream_gene_variant,,ENST00000548605,;PRKAG1,upstream_gene_variant,,ENST00000548857,;PRKAG1,upstream_gene_variant,,ENST00000547125,;RP11-386G11.5,downstream_gene_variant,,ENST00000547866,;RP11-386G11.5,downstream_gene_variant,,ENST00000552933,;RP11-386G11.5,downstream_gene_variant,,ENST00000552284,;RP11-386G11.5,downstream_gene_variant,,ENST00000547395,;PRKAG1,upstream_gene_variant,,ENST00000546531,;PRKAG1,upstream_gene_variant,,ENST00000550448,;PRKAG1,upstream_gene_variant,,ENST00000549726,;PRKAG1,upstream_gene_variant,,ENST00000550125,;PRKAG1,upstream_gene_variant,,ENST00000552657,;	uc001rta.3	c.16338G>C	16338/19419	3	3			c.16338G>C	N|F|Mis				medulloblastoma|renal	12	SNP	c.(16336-16338)CAG>CAC	54	54			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41	Broad	myeloid/lymphoid or mixed-lineage leukemia 2			49416373		0.542	ENSG00000167548	9443	g.chr12:49416373C>G	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding							-50.040802	KEEP	1	10	-1	123	173	1	10	-1	15.583563	123	173	0.02963	1	0	0	0	0	1	0	0	0	--	--	HNSCC(34;0.089)	0	G				65	GBM-06-0743-TP	p.Q5446H	C	CAGCTCATACCTGCTCTTCGT	NM_003482	NP_003473	49416373	O14686	MLL2_HUMAN	0			51	16338	-	G	G			Missense_Mutation	5446			SET.			
KMT2D	8085	broad.mit.edu	GRCh37	12	49432216	49432216	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01	TCGA-06-0743-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301067.7:c.8923C>T	p.Arg2975Cys	p.R2975C	ENST00000301067	NM_003482.3	2975	Cgc/Tgc	0		A:0	1	A:0		A	R/C	uc001rta.3	protein_coding	YES	CCDS44873.1			8923/16614	N|F|Mis				medulloblastoma|renal				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41	c.(8923-8925)CGC>TGC			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324	myeloid/lymphoid or mixed-lineage leukemia 2		A:0.001		ENSP00000301067	A:0	34/54	1.65E-05			0.000232					rs544530436,COSM3398773,COSM3398772	34/54	.		ENST00000301067	Transcript	1	A:0.0002	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	ENSG00000167548	g.chr12:49432216G>A	7133			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=MLL2_HUMAN&rb=2878&re=3077&var=R2975C	NA	getma.org/?cm=var&var=hg19,12,49432216,G,A&fts=all	R2975C	--	--	1				HNSCC(34;0.089)																															0,1,1	1		probably_damaging(0.967)	p.R2975C	NM_003482	NP_003473	A:0		0,1,1	KMT2D_HUMAN	KMT2D	HGNC	O14686	MLL2_HUMAN			Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN		34	8923	-			UPI0000EE84D6	2975			Pro-rich.		SNV	KMT2D,missense_variant,p.Arg2975Cys,ENST00000301067,NM_003482.3;KMT2D,upstream_gene_variant,,ENST00000549743,;KMT2D,downstream_gene_variant,,ENST00000549799,;KMT2D,downstream_gene_variant,,ENST00000550356,;	uc001rta.3	c.8923C>T	8923/19419	2	2			c.8923C>T	N|F|Mis				medulloblastoma|renal	12	SNP	c.(8923-8925)CGC>TGC	35	35			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41	Broad	myeloid/lymphoid or mixed-lineage leukemia 2			49432216		0.577	ENSG00000167548	9443	g.chr12:49432216G>A	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding							131.702542	KEEP	26	21	-1	32	38	26	21	-1	132.818567	32	38	0.392857	1	0	0	0	0	1	0	0	0	--	--	HNSCC(34;0.089)	0	A				65	GBM-06-0743-TP	p.R2975C	G	GGATTGGGGCGGCCAAGCTCA	NM_003482	NP_003473	49432216	O14686	MLL2_HUMAN	0			34	8923	-	A	A			Missense_Mutation	2975			Pro-rich.			
KMT2D	0	broad.mit.edu	GRCh37	12	49420539	49420539	+	stop_gained	Nonsense_Mutation	SNP	A	A	T			TCGA-14-1825-01	TCGA-14-1825-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301067.7:c.15210T>A	p.Tyr5070Ter	p.Y5070*	ENST00000301067	NM_003482.3	5070	taT/taA	0			1			T	Y/*	uc001rta.3	protein_coding	YES	CCDS44873.1			15210/16614	N|F|Mis				medulloblastoma|renal				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41	c.(15208-15210)TAT>TAA			Pfam_domain:PF13771,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324	myeloid/lymphoid or mixed-lineage leukemia 2				ENSP00000301067		48/54									COSM3398769,COSM3398768	48/54	.		ENST00000301067	Transcript	1		chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	ENSG00000167548	g.chr12:49420539A>T	7133			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,12,49420539,A,T&fts=all	Y5070*	--	--	1				HNSCC(34;0.089)																															1,1	1			p.Y5070*	NM_003482	NP_003473			1,1	KMT2D_HUMAN	KMT2D	HGNC	O14686	MLL2_HUMAN			Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN		48	15210	-			UPI0000EE84D6	5070					SNV	KMT2D,stop_gained,p.Tyr5070Ter,ENST00000301067,NM_003482.3;KMT2D,upstream_gene_variant,,ENST00000526209,;KMT2D,downstream_gene_variant,,ENST00000552391,;	uc001rta.3	c.15210T>A	15210/19419	5	1			c.15210T>A	N|F|Mis				medulloblastoma|renal	12	SNP	c.(15208-15210)TAT>TAA	5	5			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41	Broad	myeloid/lymphoid or mixed-lineage leukemia 2			49420539		0.632	ENSG00000167548	9443	g.chr12:49420539A>T	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding							83.558972	KEEP	18	11	-1	32	28	18	11	-1	85.632001	32	28	0.333333	1	0	0	0	0	0	1	0	0	--	--	HNSCC(34;0.089)	0	T				148	GBM-14-1825-TP	p.Y5070*	A	CCTGGGTCTCATACACCTCCG	NM_003482	NP_003473	49420539	O14686	MLL2_HUMAN	0			48	15210	-	T	T			Nonsense_Mutation	5070						
KMT2D	0	broad.mit.edu	GRCh37	12	49416568	49416568	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301067.7:c.16143G>T	p.Val5381=	p.V5381=	ENST00000301067	NM_003482.3	5381	gtG/gtT	0			1			A	V	uc001rta.3	protein_coding	YES	CCDS44873.1			16143/16614	N|F|Mis				medulloblastoma|renal				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41	c.(16141-16143)GTG>GTT			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324,Superfamily_domains:SSF82199	myeloid/lymphoid or mixed-lineage leukemia 2				ENSP00000301067		51/54									COSM3398767,COSM3398766	51/54	.		ENST00000301067	Transcript	1		chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	ENSG00000167548	g.chr12:49416568C>A	7133			LOW								--	--	1				HNSCC(34;0.089)																															1,1	1			p.V5381V	NM_003482	NP_003473			1,1	KMT2D_HUMAN	KMT2D	HGNC	O14686	MLL2_HUMAN			Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN		51	16143	-			UPI0000EE84D6	5381					SNV	KMT2D,synonymous_variant,p.=,ENST00000301067,NM_003482.3;KMT2D,synonymous_variant,p.=,ENST00000526209,;PRKAG1,upstream_gene_variant,,ENST00000548065,;PRKAG1,upstream_gene_variant,,ENST00000395170,NM_002733.4;PRKAG1,upstream_gene_variant,,ENST00000316299,NM_001206709.1;PRKAG1,upstream_gene_variant,,ENST00000547306,;PRKAG1,upstream_gene_variant,,ENST00000552212,NM_001206710.1;PRKAG1,upstream_gene_variant,,ENST00000552463,;PRKAG1,upstream_gene_variant,,ENST00000551696,;PRKAG1,upstream_gene_variant,,ENST00000548950,;PRKAG1,upstream_gene_variant,,ENST00000551121,;PRKAG1,upstream_gene_variant,,ENST00000547082,;PRKAG1,upstream_gene_variant,,ENST00000548605,;PRKAG1,upstream_gene_variant,,ENST00000548857,;PRKAG1,upstream_gene_variant,,ENST00000547125,;RP11-386G11.5,downstream_gene_variant,,ENST00000547866,;RP11-386G11.5,downstream_gene_variant,,ENST00000552933,;RP11-386G11.5,downstream_gene_variant,,ENST00000552284,;RP11-386G11.5,downstream_gene_variant,,ENST00000547395,;PRKAG1,upstream_gene_variant,,ENST00000546531,;PRKAG1,upstream_gene_variant,,ENST00000550448,;PRKAG1,upstream_gene_variant,,ENST00000549726,;PRKAG1,upstream_gene_variant,,ENST00000550125,;PRKAG1,upstream_gene_variant,,ENST00000552657,;	uc001rta.3	c.16143G>T	16143/19419	2	2			c.16143G>T	N|F|Mis				medulloblastoma|renal	12	SNP	c.(16141-16143)GTG>GTT	41	41			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41	Broad	myeloid/lymphoid or mixed-lineage leukemia 2			49416568		0.587	ENSG00000167548	9443	g.chr12:49416568C>A	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding							-6.12652	KEEP	2	1	0.333333333	40	51	2	1	0.333333333	6.48418	40	51	0.050847	1	0	0	0	0	0	0	1	0	--	--	HNSCC(34;0.089)	0	A				160	GBM-19-1790-TP	p.V5381V	C	ACTTGGAGTGCACAAACTGCT	NM_003482	NP_003473	49416568	O14686	MLL2_HUMAN	0			51	16143	-	A	A			Silent	5381						
KMT2D	0	broad.mit.edu	GRCh37	12	49432573	49432573	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-41-4097-01	TCGA-41-4097-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301067.7:c.8566G>C	p.Gly2856Arg	p.G2856R	ENST00000301067	NM_003482.3	2856	Gga/Cga	0			1			G	G/R	uc001rta.3	protein_coding	YES	CCDS44873.1			8566/16614	N|F|Mis				medulloblastoma|renal				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41	c.(8566-8568)GGA>CGA			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324	myeloid/lymphoid or mixed-lineage leukemia 2				ENSP00000301067		34/54									COSM3398775,COSM3398774	34/54	.		ENST00000301067	Transcript	1		chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	ENSG00000167548	g.chr12:49432573C>G	7133			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=MLL2_HUMAN&rb=2678&re=2877&var=G2856R	NA	getma.org/?cm=var&var=hg19,12,49432573,C,G&fts=all	G2856R	--	--	1				HNSCC(34;0.089)																															1,1	1		probably_damaging(0.987)	p.G2856R	NM_003482	NP_003473			1,1	KMT2D_HUMAN	KMT2D	HGNC	O14686	MLL2_HUMAN			Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN		34	8566	-			UPI0000EE84D6	2856					SNV	KMT2D,missense_variant,p.Gly2856Arg,ENST00000301067,NM_003482.3;KMT2D,non_coding_transcript_exon_variant,,ENST00000549799,;KMT2D,upstream_gene_variant,,ENST00000549743,;KMT2D,downstream_gene_variant,,ENST00000550356,;	uc001rta.3	c.8566G>C	8566/19419	3	3			c.8566G>C	N|F|Mis				medulloblastoma|renal	12	SNP	c.(8566-8568)GGA>CGA	8	8			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41	Broad	myeloid/lymphoid or mixed-lineage leukemia 2			49432573		0.557	ENSG00000167548	9443	g.chr12:49432573C>G	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding							5.941096	KEEP	2	0	-1	5	10	2	0	-1	7.430459	5	10	0.153846	1	0	0	0	0	1	0	0	0	--	--	HNSCC(34;0.089)	0	G				257	GBM-41-4097-TP	p.G2856R	C	GTGGAAATTCCCGCCAACGGG	NM_003482	NP_003473	49432573	O14686	MLL2_HUMAN	0			34	8566	-	G	G			Missense_Mutation	2856						
KMT2E	0	broad.mit.edu	GRCh37	7	104681416	104681416	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01	TCGA-14-1450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257745.4:c.17C>T	p.Pro6Leu	p.P6L	ENST00000257745	NM_018682.3	6	cCa/cTa	0			1			T	P/L	uc003vcm.2	protein_coding		CCDS34723.1			17/5577									ovary(2)|pancreas(1)	3	c.(16-18)CCA>CTA			hmmpanther:PTHR16286,hmmpanther:PTHR16286:SF9	myeloid/lymphoid or mixed-lineage leukemia 5				ENSP00000257745		26-Feb									COSM3411443,COSM3411444	26-Feb	.		ENST00000257745	Transcript			cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding	ENSG00000005483	g.chr7:104681416C>T	18541			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=MLL5_HUMAN&rb=1&re=109&var=P6L	NA	getma.org/?cm=var&var=hg19,7,104681416,C,T&fts=all	P6L	--	--	1																																		MLL5_uc010lja.1_5'UTR|MLL5_uc010ljb.1_Missense_Mutation_p.P6L|MLL5_uc003vcl.2_Missense_Mutation_p.P6L|MLL5_uc010ljc.2_Missense_Mutation_p.P6L	1,1			unknown(0)	p.P6L	NM_182931	NP_891847		deleterious_low_confidence(0)	1,1	KMT2E_HUMAN	KMT2E	HGNC	Q8IZD2	MLL5_HUMAN			O95038_HUMAN,C9JQ68_HUMAN,C9JNE1_HUMAN		3	551	+			UPI0000074133	6					SNV	KMT2E,missense_variant,p.Pro6Leu,ENST00000334877,;KMT2E,missense_variant,p.Pro6Leu,ENST00000311117,NM_182931.2;KMT2E,missense_variant,p.Pro6Leu,ENST00000257745,NM_018682.3;KMT2E,missense_variant,p.Pro6Leu,ENST00000476671,;KMT2E,missense_variant,p.Pro6Leu,ENST00000478990,;KMT2E,missense_variant,p.Pro6Leu,ENST00000495267,;KMT2E,missense_variant,p.Pro6Leu,ENST00000474203,;KMT2E,5_prime_UTR_variant,,ENST00000334914,;KMT2E,downstream_gene_variant,,ENST00000480368,;KMT2E,missense_variant,p.Pro6Leu,ENST00000334884,;KMT2E,missense_variant,p.Pro6Leu,ENST00000482560,;	uc003vcm.2	c.17C>T	403/6714	2	2			c.17C>T						7	SNP	c.(16-18)CCA>CTA	45	45			ovary(2)|pancreas(1)	3	Broad	myeloid/lymphoid or mixed-lineage leukemia 5			104681416		0.428	ENSG00000005483	9446	g.chr7:104681416C>T	cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding							22.22088	KEEP	7	9	-1	37	48	7	9	-1	30.225766	37	48	0.168831	1	0	0	0	0	1	0	0	0	--	--		0	T			MLL5_uc010lja.1_5'UTR|MLL5_uc010ljb.1_Missense_Mutation_p.P6L|MLL5_uc003vcl.2_Missense_Mutation_p.P6L|MLL5_uc010ljc.2_Missense_Mutation_p.P6L	145	GBM-14-1450-TP	p.P6L	C	ATAGTGATCCCATTGGGGGTT	NM_182931	NP_891847	104681416	Q8IZD2	MLL5_HUMAN	0			3	551	+	T	T			Missense_Mutation	6						
KNDC1	85442	broad.mit.edu	GRCh37	10	135038289	135038289	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-06-0213-01	TCGA-06-0213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304613.3:c.5145C>G	p.Ser1715=	p.S1715=	ENST00000304613		1715	tcC/tcG	0			1			G	S	uc001llz.1	protein_coding	YES	CCDS7674.1			5145/5250									upper_aerodigestive_tract(1)|ovary(1)	2	c.(5143-5145)TCC>TCG			SMART_domains:SM00147,hmmpanther:PTHR21560:SF0,hmmpanther:PTHR21560,PROSITE_profiles:PS50009	kinase non-catalytic C-lobe domain (KIND)				ENSP00000304437		30/30									COSM2150863,COSM3397007	30/30	.		ENST00000304613	Transcript			regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			ENSG00000171798	g.chr10:135038289C>G	29374			LOW								--	--	1																																			1,1	1			p.S1715S	NM_152643	NP_689856			1,1	VKIND_HUMAN	KNDC1	HGNC	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	B4DFN0_HUMAN		30	5146	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	UPI00003529F7	1715			Ras-GEF.		SNV	KNDC1,synonymous_variant,p.=,ENST00000304613,;KNDC1,synonymous_variant,p.=,ENST00000368572,NM_152643.6;	uc001llz.1	c.5145C>G	5166/6793	3	3			c.5145C>G						10	SNP	c.(5143-5145)TCC>TCG	3	3			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	kinase non-catalytic C-lobe domain (KIND)			135038289		0.582	ENSG00000171798	8283	g.chr10:135038289C>G	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction									71.484291	KEEP	6	22	-1	21	21	6	22	-1	71.933482	21	21	0.40678	1	0	0	0	0	0	0	1	0	--	--		0	G				49	GBM-06-0213-TP	p.S1715S	C	CCGACATTTCCACACTCGCCG	NM_152643	NP_689856	135038289	Q76NI1	VKIND_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	30	5146	+	G	G		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	Silent	1715			Ras-GEF.			
KNDC1	0	broad.mit.edu	GRCh37	10	135020727	135020727	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-4719-01	TCGA-32-4719-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304613.3:c.3666C>A	p.Asp1222Glu	p.D1222E	ENST00000304613		1222	gaC/gaA	0			1			A	D/E	uc001llz.1	protein_coding	YES	CCDS7674.1			3666/5250									upper_aerodigestive_tract(1)|ovary(1)	2	c.(3664-3666)GAC>GAA			Gene3D:2ii0A01,hmmpanther:PTHR21560:SF0,hmmpanther:PTHR21560	kinase non-catalytic C-lobe domain (KIND)				ENSP00000304437		20/30									COSM3397005,COSM3397006	20/30	.		ENST00000304613	Transcript			regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			ENSG00000171798	g.chr10:135020727C>A	29374			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=VKIND_HUMAN&rb=1190&re=1278&var=D1222E	NA	getma.org/?cm=var&var=hg19,10,135020727,C,A&fts=all	D1222E	--	--	1																																			1,1	1		benign(0.04)	p.D1222E	NM_152643	NP_689856		tolerated(0.09)	1,1	VKIND_HUMAN	KNDC1	HGNC	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	B4DFN0_HUMAN		20	3667	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	UPI00003529F7	1222					SNV	KNDC1,missense_variant,p.Asp1222Glu,ENST00000304613,;KNDC1,missense_variant,p.Asp1224Glu,ENST00000368572,NM_152643.6;KNDC1,downstream_gene_variant,,ENST00000368571,;	uc001llz.1	c.3666C>A	3687/6793	2	2			c.3666C>A						10	SNP	c.(3664-3666)GAC>GAA	23	23			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	kinase non-catalytic C-lobe domain (KIND)			135020727		0.687	ENSG00000171798	8283	g.chr10:135020727C>A	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction									2.330488	KEEP	2	0	-1	13	11	2	0	-1	6.564871	13	11	0.083333	1	0	0	0	0	1	0	0	0	--	--		0	A				248	GBM-32-4719-TP	p.D1222E	C	ACACGCTGGACTTCAGCCCCC	NM_152643	NP_689856	135020727	Q76NI1	VKIND_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	20	3667	+	A	A		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	Missense_Mutation	1222						
KNDC1	85442		GRCh37	10	135020649	135020649	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000304613.3:c.3588C>A	p.Tyr1196Ter	p.Y1196*	ENST00000304613		1196	taC/taA	0																																																																																																																																																																																																																																												
KNG1	3827	broad.mit.edu	GRCh37	3	186457116	186457116	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A			TCGA-06-0744-01	TCGA-06-0744-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265023.4:c.1039-1G>A		p.X347_splice	ENST00000265023	NM_001102416.2	347		0			1			A		uc011bsa.1	protein_coding	YES	CCDS43183.1			1039/1935									skin(1)	1	c.e9-1				kininogen 1 isoform 1	Ouabain(DB01092)			ENSP00000265023											COSM2151687,COSM2151686		.		ENST00000265023	Transcript	1		blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	ENSG00000113889	g.chr3:186457116G>A	6383			HIGH	9-Aug							--	--	1																																		KNG1_uc003fqr.2_Splice_Site_p.Q347_splice	1,1	1			p.Q347_splice	NM_001102416	NP_001095886			1,1	KNG1_HUMAN	KNG1	HGNC	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)			9	1251	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		UPI000013D5AC						SNV	KNG1,splice_acceptor_variant,,ENST00000265023,NM_001102416.2;KNG1,splice_acceptor_variant,,ENST00000287611,NM_000893.3;KNG1,splice_acceptor_variant,,ENST00000447445,NM_001166451.1;RP11-573D15.8,intron_variant,,ENST00000599314,;RP11-573D15.8,intron_variant,,ENST00000354642,;RP11-573D15.8,downstream_gene_variant,,ENST00000596329,;RP11-573D15.8,downstream_gene_variant,,ENST00000596632,;RP11-573D15.8,downstream_gene_variant,,ENST00000609726,;RP11-573D15.8,downstream_gene_variant,,ENST00000609652,;	uc011bsa.1	c.1039_splice	-/3435	5	1			c.1039_splice						3	SNP	c.e9-1	64	64			skin(1)	1	Broad	kininogen 1 isoform 1		Ouabain(DB01092)	186457116		0.373	ENSG00000113889	8284	g.chr3:186457116G>A	blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding							74.547251	KEEP	19	7	-1	22	14	19	7	-1	74.859965	22	14	0.418182	1	0	0	0	0	0	0	0	1	--	--		0	A			KNG1_uc003fqr.2_Splice_Site_p.Q347_splice	66	GBM-06-0744-TP	p.Q347_splice	G	TTCATGGATAGCAAAGCCTAG	NM_001102416	NP_001095886	186457116	P01042	KNG1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	9	1251	+	A	A	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		Splice_Site							
KNG1	0	broad.mit.edu	GRCh37	3	186459456	186459456	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1836-01	TCGA-27-1836-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265023.4:c.1271G>A	p.Gly424Glu	p.G424E	ENST00000265023	NM_001102416.2	424	gGg/gAg	0			1			A	G/E	uc011bsa.1	protein_coding	YES	CCDS43183.1			1271/1935									skin(1)	1	c.(1270-1272)GGG>GAG			Prints_domain:PR00334,hmmpanther:PTHR13814,hmmpanther:PTHR13814:SF9	kininogen 1 isoform 1	Ouabain(DB01092)			ENSP00000265023		10-Oct									COSM3408500	10-Oct	.		ENST00000265023	Transcript	1		blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	ENSG00000113889	g.chr3:186459456G>A	6383			MODERATE		2.25	medium	getma.org/?cm=msa&ty=f&p=KNG1_HUMAN&rb=361&re=560&var=G424E	NA	getma.org/?cm=var&var=hg19,3,186459456,G,A&fts=all	G424E	--	--	1																																		KNG1_uc003fqr.2_Intron	1	1		benign(0.021)	p.G424E	NM_001102416	NP_001095886		tolerated(0.34)	1	KNG1_HUMAN	KNG1	HGNC	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)			10	1483	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		UPI000013D5AC	424			|His-rich.		SNV	KNG1,missense_variant,p.Gly424Glu,ENST00000265023,NM_001102416.2;KNG1,intron_variant,,ENST00000287611,NM_000893.3;KNG1,intron_variant,,ENST00000447445,NM_001166451.1;RP11-573D15.8,intron_variant,,ENST00000599314,;RP11-573D15.8,intron_variant,,ENST00000354642,;RP11-573D15.8,downstream_gene_variant,,ENST00000596329,;RP11-573D15.8,downstream_gene_variant,,ENST00000596632,;RP11-573D15.8,downstream_gene_variant,,ENST00000609726,;RP11-573D15.8,downstream_gene_variant,,ENST00000609652,;	uc011bsa.1	c.1271G>A	1483/3435	1	1			c.1271G>A						3	SNP	c.(1270-1272)GGG>GAG	53	53			skin(1)	1	Broad	kininogen 1 isoform 1		Ouabain(DB01092)	186459456		0.458	ENSG00000113889	8284	g.chr3:186459456G>A	blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding							86.139893	KEEP	15	15	-1	36	38	15	15	-1	89.788629	36	38	0.295918	1	0	0	0	0	1	0	0	0	--	--		0	A			KNG1_uc003fqr.2_Intron	195	GBM-27-1836-TP	p.G424E	G	AAAGAACAAGGGCATACTCGT	NM_001102416	NP_001095886	186459456	P01042	KNG1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	10	1483	+	A	A	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		Missense_Mutation	424			|His-rich.			
KNTC1	0	broad.mit.edu	GRCh37	12	123097664	123097664	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-28-5219-01	TCGA-28-5219-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333479.7:c.5628A>G	p.Leu1876=	p.L1876=	ENST00000333479	NM_014708.4	1876	ttA/ttG	0			1			G	L	uc001ucv.2	protein_coding	YES	CCDS45002.1			5628/6630									ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	c.(5626-5628)TTA>TTG			hmmpanther:PTHR15688:SF1,hmmpanther:PTHR15688,Pfam_domain:PF10493	Rough Deal homolog, centromere/kinetochore				ENSP00000328236		54/64	8.28E-06					1.50E-05			rs771525911,COSM3398468	54/64	.		ENST00000333479	Transcript			cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	ENSG00000184445	g.chr12:123097664A>G	17255			LOW								--	--	1																																		KNTC1_uc010taf.1_Silent_p.L801L	0,1	1			p.L1876L	NM_014708	NP_055523			0,1	KNTC1_HUMAN	KNTC1	HGNC	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	J3KQF2_HUMAN,F5H5V0_HUMAN		54	5791	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		UPI0000047FD6	1876					SNV	KNTC1,synonymous_variant,p.=,ENST00000333479,NM_014708.4;KNTC1,synonymous_variant,p.=,ENST00000450485,;KNTC1,synonymous_variant,p.=,ENST00000537348,;KNTC1,synonymous_variant,p.=,ENST00000546125,;KNTC1,5_prime_UTR_variant,,ENST00000436959,;KNTC1,non_coding_transcript_exon_variant,,ENST00000542727,;KNTC1,non_coding_transcript_exon_variant,,ENST00000539013,;KNTC1,downstream_gene_variant,,ENST00000536625,;KNTC1,upstream_gene_variant,,ENST00000541427,;	uc001ucv.2	c.5628A>G	5805/6975	4	4			c.5628A>G						12	SNP	c.(5626-5628)TTA>TTG	30	30			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	Broad	Rough Deal homolog, centromere/kinetochore			123097664		0.373	ENSG00000184445	8285	g.chr12:123097664A>G	cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding							-46.252921	KEEP	0	4	-1	117	98	0	4	-1	7.168771	117	98	0.015	1	0	0	0	0	0	0	1	0	--	--		0	G			KNTC1_uc010taf.1_Silent_p.L801L	225	GBM-28-5219-TP	p.L1876L	A	TTCAGACATTAGGTATGCATC	NM_014708	NP_055523	123097664	P50748	KNTC1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	54	5791	+	G	G	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		Silent	1876						
KNTC1	0	broad.mit.edu	GRCh37	12	123014673	123014673	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-32-4210-01	TCGA-32-4210-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333479.7:c.63T>G	p.Gly21=	p.G21=	ENST00000333479	NM_014708.4	21	ggT/ggG	0			1			G	G	uc001ucv.2	protein_coding	YES	CCDS45002.1			63/6630									ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	c.(61-63)GGT>GGG			hmmpanther:PTHR15688:SF1,hmmpanther:PTHR15688	Rough Deal homolog, centromere/kinetochore				ENSP00000328236		Feb-64	0.000323	0.000409		0.000348	0.000918	0.000361		6.06E-05	rs780276076,COSM3747915	Feb-64	common_variant		ENST00000333479	Transcript			cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	ENSG00000184445	g.chr12:123014673T>G	17255			LOW								--	--	1																																		KNTC1_uc010taf.1_Silent_p.G21G	0,1	1			p.G21G	NM_014708	NP_055523			0,1	KNTC1_HUMAN	KNTC1	HGNC	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	J3KQF2_HUMAN,F5H5V0_HUMAN		2	226	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		UPI0000047FD6	21					SNV	KNTC1,synonymous_variant,p.=,ENST00000333479,NM_014708.4;KNTC1,synonymous_variant,p.=,ENST00000450485,;RSRC2,upstream_gene_variant,,ENST00000331738,NM_023012.5;RSRC2,upstream_gene_variant,,ENST00000354654,;RSRC2,upstream_gene_variant,,ENST00000344591,;RSRC2,upstream_gene_variant,,ENST00000528279,;RSRC2,upstream_gene_variant,,ENST00000526560,;RSRC2,upstream_gene_variant,,ENST00000527461,;KNTC1,downstream_gene_variant,,ENST00000535410,;RSRC2,upstream_gene_variant,,ENST00000527796,;RSRC2,upstream_gene_variant,,ENST00000532695,;RSRC2,upstream_gene_variant,,ENST00000433877,;RSRC2,upstream_gene_variant,,ENST00000525335,;RSRC2,upstream_gene_variant,,ENST00000527399,;RSRC2,upstream_gene_variant,,ENST00000525387,;RSRC2,upstream_gene_variant,,ENST00000525570,;	uc001ucv.2	c.63T>G	240/6975	3	3			c.63T>G						12	SNP	c.(61-63)GGT>GGG	1	1			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	Broad	Rough Deal homolog, centromere/kinetochore			123014673		0.403	ENSG00000184445	8285	g.chr12:123014673T>G	cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding							1.671929	KEEP	21	22	-1	20	31	21	22	-1	7.567493	20	31	0.16	1	0	0	0	0	0	0	1	0	--	--		0	G			KNTC1_uc010taf.1_Silent_p.G21G	245	GBM-32-4210-TP	p.G21G	T	TGAGTGTCGGTTCAAGAAAAG	NM_014708	NP_055523	123014673	P50748	KNTC1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	2	226	+	G	G	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		Silent	21						
KNTC1	0	broad.mit.edu	GRCh37	12	123014673	123014673	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-76-4928-01	TCGA-76-4928-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333479.7:c.63T>G	p.Gly21=	p.G21=	ENST00000333479	NM_014708.4	21	ggT/ggG	0			1			G	G	uc001ucv.2	protein_coding	YES	CCDS45002.1			63/6630									ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	c.(61-63)GGT>GGG			hmmpanther:PTHR15688:SF1,hmmpanther:PTHR15688	Rough Deal homolog, centromere/kinetochore				ENSP00000328236		Feb-64	0.000323	0.000409		0.000348	0.000918	0.000361		6.06E-05	rs780276076,COSM3747915	Feb-64	common_variant		ENST00000333479	Transcript			cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	ENSG00000184445	g.chr12:123014673T>G	17255			LOW								--	--	1																																		KNTC1_uc010taf.1_Silent_p.G21G	0,1	1			p.G21G	NM_014708	NP_055523			0,1	KNTC1_HUMAN	KNTC1	HGNC	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	J3KQF2_HUMAN,F5H5V0_HUMAN		2	226	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		UPI0000047FD6	21					SNV	KNTC1,synonymous_variant,p.=,ENST00000333479,NM_014708.4;KNTC1,synonymous_variant,p.=,ENST00000450485,;RSRC2,upstream_gene_variant,,ENST00000331738,NM_023012.5;RSRC2,upstream_gene_variant,,ENST00000354654,;RSRC2,upstream_gene_variant,,ENST00000344591,;RSRC2,upstream_gene_variant,,ENST00000528279,;RSRC2,upstream_gene_variant,,ENST00000526560,;RSRC2,upstream_gene_variant,,ENST00000527461,;KNTC1,downstream_gene_variant,,ENST00000535410,;RSRC2,upstream_gene_variant,,ENST00000527796,;RSRC2,upstream_gene_variant,,ENST00000532695,;RSRC2,upstream_gene_variant,,ENST00000433877,;RSRC2,upstream_gene_variant,,ENST00000525335,;RSRC2,upstream_gene_variant,,ENST00000527399,;RSRC2,upstream_gene_variant,,ENST00000525387,;RSRC2,upstream_gene_variant,,ENST00000525570,;	uc001ucv.2	c.63T>G	240/6975	3	3			c.63T>G						12	SNP	c.(61-63)GGT>GGG	1	1			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	Broad	Rough Deal homolog, centromere/kinetochore			123014673		0.403	ENSG00000184445	8285	g.chr12:123014673T>G	cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding							-3.65118	KEEP	27	38	-1	34	54	27	38	-1	8.888526	34	54	0.147368	1	0	0	0	0	0	0	1	0	--	--		0	G			KNTC1_uc010taf.1_Silent_p.G21G	268	GBM-76-4928-TP	p.G21G	T	TGAGTGTCGGTTCAAGAAAAG	NM_014708	NP_055523	123014673	P50748	KNTC1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	2	226	+	G	G	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		Silent	21						
KPNA5	0	broad.mit.edu	GRCh37	6	117023258	117023258	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-14-0740-01	TCGA-14-0740-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356348.1:c.512C>G	p.Ala171Gly	p.A171G	ENST00000356348	NM_002269.2	171	gCt/gGt	0			1			G	A/G	uc003pxh.2	protein_coding		CCDS5111.1			512/1620									breast(3)|skin(1)	4	c.(511-513)GCT>GGT			PROSITE_profiles:PS50176,hmmpanther:PTHR23316:SF10,hmmpanther:PTHR23316,Gene3D:1.25.10.10,Pfam_domain:PF00514,SMART_domains:SM00185,PIRSF_domain:PIRSF005673,Superfamily_domains:SSF48371	karyopherin alpha 5				ENSP00000348704		15-Jun									COSM3410546	15-Jun	.		ENST00000356348	Transcript			NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity	ENSG00000196911	g.chr6:117023258C>G	6398			MODERATE		2.81	medium	getma.org/?cm=msa&ty=f&p=IMA5_HUMAN&rb=158&re=196&var=A168G	getma.org/pdb.php?prot=IMA5_HUMAN&from=158&to=196&var=A168G	getma.org/?cm=var&var=hg19,6,117023258,C,G&fts=all	A168G	--	--	1																																			1			probably_damaging(0.997)	p.A171G	NM_002269	NP_002260		deleterious(0.01)	1	IMA6_HUMAN	KPNA5	HGNC	O15131	IMA5_HUMAN		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)	Q5TD90_HUMAN		6	643	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	UPI000000DBE6	168			ARM 3.|NLS binding site (major) (By similarity).		SNV	KPNA5,missense_variant,p.Ala171Gly,ENST00000368564,;KPNA5,missense_variant,p.Ala171Gly,ENST00000356348,NM_002269.2;KPNA5,downstream_gene_variant,,ENST00000413340,;	uc003pxh.2	c.512C>G	643/2157	3	3			c.512C>G						6	SNP	c.(511-513)GCT>GGT	49	49			breast(3)|skin(1)	4	Broad	karyopherin alpha 5			117023258		0.318	ENSG00000196911	8289	g.chr6:117023258C>G	NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			205			205	18.500896	KEEP	6	7	-1	57	45	6	7	-1	32.576116	57	45	0.126214	1	0	0	0	0	1	0	0	0	--	--		0	G				132	GBM-14-0740-TP	p.A171G	C	GAAACTGGGGCTGTTCCGATT	NM_002269	NP_002260	117023258	O15131	IMA5_HUMAN	0		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)	6	643	+	G	G		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	Missense_Mutation	168			ARM 3.|NLS binding site (major) (By similarity).			
KPNA6	23633	broad.mit.edu	GRCh37	1	32620313	32620317	+	frameshift_variant	Frame_Shift_Del	DEL	AGAGC	AGAGC	-			TCGA-06-0649-01	TCGA-06-0649-01	AGAGC	AGAGC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373625.3:c.130_134del	p.Glu44ThrfsTer4	p.E44Tfs*4	ENST00000373625	NM_012316.4	43	cgAGAGCaa/cgaa	0			1			-	REQ/RX	uc001bug.2	protein_coding	YES	CCDS352.1			129-133/1611										0	c.(127-135)CGAGAGCAAfs			Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51214,hmmpanther:PTHR23316:SF8,hmmpanther:PTHR23316,Pfam_domain:PF01749,Gene3D:1.25.10.10,PIRSF_domain:PIRSF005673,Superfamily_domains:SSF48371	karyopherin alpha 6				ENSP00000362728		14-Feb										14-Feb	.		ENST00000373625	Transcript			NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	ENSG00000025800	g.chr1:32620313_32620317delAGAGC	6399	1		HIGH								--	--	1																																		KPNA6_uc001buh.2_5'UTR|KPNA6_uc010ogx.1_Frame_Shift_Del_p.R40fs|KPNA6_uc010ogy.1_Frame_Shift_Del_p.R48fs|KPNA6_uc009vtz.2_5'Flank		1			p.R43fs	NM_012316	NP_036448				IMA7_HUMAN	KPNA6	HGNC	O60684	IMA7_HUMAN			G1UI19_HUMAN,F5H4G7_HUMAN		2	217_221	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	UPI000006D3B6	43_45			IBB.|Nuclear localization signal (By similarity).		deletion	KPNA6,frameshift_variant,p.Glu44ThrfsTer4,ENST00000373625,NM_012316.4;KPNA6,frameshift_variant,p.Glu41ThrfsTer4,ENST00000537234,;KPNA6,frameshift_variant,p.Glu49ThrfsTer4,ENST00000545542,;KPNA6,upstream_gene_variant,,ENST00000446515,;KPNA6,non_coding_transcript_exon_variant,,ENST00000469790,;KPNA6,frameshift_variant,p.Glu44ThrfsTer4,ENST00000471599,;	uc001bug.2	c.129_133delAGAGC	222-226/7378	5	5			c.129_133delAGAGC						1	DEL	c.(127-135)CGAGAGCAAfs	46	46				0	Broad	karyopherin alpha 6			32620317		0.454	ENSG00000025800	8290	g.chr1:32620313_32620317delAGAGC	NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding																				0.13	1	1	0	1	0	0	0	0	0	--	--		0	-			KPNA6_uc001buh.2_5'UTR|KPNA6_uc010ogx.1_Frame_Shift_Del_p.R40fs|KPNA6_uc010ogy.1_Frame_Shift_Del_p.R48fs|KPNA6_uc009vtz.2_5'Flank	62	GBM-06-0649-TP	p.R43fs	AGAGC	AGCAGAAGCGAGAGCAACAAGTGAG	NM_012316	NP_036448	32620313	O60684	IMA7_HUMAN	0			2	217_221	+	-	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	Frame_Shift_Del	43_45			IBB.|Nuclear localization signal (By similarity).			
KPNA6	0	broad.mit.edu	GRCh37	1	32622514	32622514	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-28-5219-01	TCGA-28-5219-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373625.3:c.199C>A	p.Leu67Ile	p.L67I	ENST00000373625	NM_012316.4	67	Ctc/Atc	0			1			A	L/I	uc001bug.2	protein_coding	YES	CCDS352.1			199/1611										0	c.(199-201)CTC>ATC			hmmpanther:PTHR23316:SF8,hmmpanther:PTHR23316,Pfam_domain:PF01749,Gene3D:1.25.10.10,PIRSF_domain:PIRSF005673,Superfamily_domains:SSF48371	karyopherin alpha 6				ENSP00000362728		14-Mar									COSM3400677	14-Mar	.		ENST00000373625	Transcript			NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	ENSG00000025800	g.chr1:32622514C>A	6399			MODERATE		0.145	neutral	getma.org/?cm=msa&ty=f&p=IMA7_HUMAN&rb=5&re=103&var=L67I	NA	getma.org/?cm=var&var=hg19,1,32622514,C,A&fts=all	L67I	--	--	1																																		KPNA6_uc001buh.2_5'UTR|KPNA6_uc010ogx.1_Missense_Mutation_p.L64I|KPNA6_uc010ogy.1_Missense_Mutation_p.L72I|KPNA6_uc009vtz.2_Missense_Mutation_p.L6I	1	1		benign(0.02)	p.L67I	NM_012316	NP_036448		tolerated(0.24)	1	IMA7_HUMAN	KPNA6	HGNC	O60684	IMA7_HUMAN			G1UI19_HUMAN,F5H4G7_HUMAN		3	287	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	UPI000006D3B6	67					SNV	KPNA6,missense_variant,p.Leu67Ile,ENST00000373625,NM_012316.4;KPNA6,missense_variant,p.Leu64Ile,ENST00000537234,;KPNA6,missense_variant,p.Leu72Ile,ENST00000545542,;KPNA6,missense_variant,p.Leu18Ile,ENST00000446515,;KPNA6,non_coding_transcript_exon_variant,,ENST00000469790,;KPNA6,missense_variant,p.Leu67Ile,ENST00000471599,;	uc001bug.2	c.199C>A	292/7378	2	2			c.199C>A						1	SNP	c.(199-201)CTC>ATC	24	24				0	Broad	karyopherin alpha 6			32622514		0.468	ENSG00000025800	8290	g.chr1:32622514C>A	NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding							-31.144803	KEEP	3	1	0.25	100	74	3	1	0.25	6.303833	100	74	0.02649	1	0	0	0	0	1	0	0	0	--	--		0	A			KPNA6_uc001buh.2_5'UTR|KPNA6_uc010ogx.1_Missense_Mutation_p.L64I|KPNA6_uc010ogy.1_Missense_Mutation_p.L72I|KPNA6_uc009vtz.2_Missense_Mutation_p.L6I	225	GBM-28-5219-TP	p.L67I	C	CGATAGTCTTCTCATGGACTC	NM_012316	NP_036448	32622514	O60684	IMA7_HUMAN	0			3	287	+	A	A		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	Missense_Mutation	67						
KPNB1	0	broad.mit.edu	GRCh37	17	45734349	45734349	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-14-0813-01	TCGA-14-0813-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290158.4:c.407delA	p.Asn136MetfsTer11	p.N136Mfs*11	ENST00000290158	NM_002265.5	136	Aat/at	0			1			-	N/X	uc002ilt.1	protein_coding	YES	CCDS11513.1			406/2631									ovary(1)|pancreas(1)|skin(1)	3	c.(406-408)AATfs			hmmpanther:PTHR10527:SF1,hmmpanther:PTHR10527,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	karyopherin beta 1				ENSP00000290158		22-Apr									COSM2154719	22-Apr	.		ENST00000290158	Transcript			DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding	ENSG00000108424	g.chr17:45734349delA	6400	1		HIGH								--	--	1																																		KPNB1_uc010wkw.1_5'UTR|KPNB1_uc010wkx.1_5'UTR	1	1			p.N136fs	NM_002265	NP_002256			1	IMB1_HUMAN	KPNB1	HGNC	Q14974	IMB1_HUMAN			J3QRG4_HUMAN,J3QR48_HUMAN,B7ZAV6_HUMAN		4	742	+			UPI0000001C21	136			HEAT 1.		deletion	KPNB1,frameshift_variant,p.Asn136MetfsTer11,ENST00000290158,NM_002265.5;KPNB1,frameshift_variant,p.Asn21MetfsTer11,ENST00000582097,;KPNB1,frameshift_variant,p.Asn136MetfsTer11,ENST00000583648,;KPNB1,5_prime_UTR_variant,,ENST00000535458,;KPNB1,5_prime_UTR_variant,,ENST00000540627,NM_001276453.1;KPNB1,5_prime_UTR_variant,,ENST00000537679,;KPNB1,5_prime_UTR_variant,,ENST00000577875,;KPNB1,non_coding_transcript_exon_variant,,ENST00000577918,;	uc002ilt.1	c.406delA	813/6139	5	5			c.406delA						17	DEL	c.(406-408)AATfs	14	14			ovary(1)|pancreas(1)|skin(1)	3	Broad	karyopherin beta 1			45734349		0.483	ENSG00000108424	8291	g.chr17:45734349delA	DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding																				0.29	1	1	0	1	0	0	0	0	0	--	--		0	-			KPNB1_uc010wkw.1_5'UTR|KPNB1_uc010wkx.1_5'UTR	138	GBM-14-0813-TP	p.N136fs	A	GCTGGTGGCCAATGTCACAAA	NM_002265	NP_002256	45734349	Q14974	IMB1_HUMAN	0			4	742	+	-	-			Frame_Shift_Del	136			HEAT 1.			
KPRP	448834	broad.mit.edu	GRCh37	1	152732806	152732806	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0238-01	TCGA-06-0238-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368773.1:c.742C>T	p.Arg248Cys	p.R248C	ENST00000368773	NM_001025231.1	248	Cgc/Tgc	0			1			T	R/C	uc001fal.1	protein_coding		CCDS30862.1			742/1740									ovary(4)|pancreas(1)	5	c.(742-744)CGC>TGC				keratinocyte proline-rich protein				ENSP00000475216		1-Jan									COSM2151091	1-Jan	.		ENST00000606109	Transcript				cytoplasm		ENSG00000203786	g.chr1:152732806C>T	31823			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=KPRP_HUMAN&rb=201&re=400&var=R248C	NA	getma.org/?cm=var&var=hg19,1,152732806,C,T&fts=all	R248C	--	--	1																																			1			probably_damaging(0.984)	p.R248C	NM_001025231	NP_001020402		deleterious(0)	1	KPRP_HUMAN	KPRP	HGNC	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)				2	800	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		UPI0000199942	248					SNV	KPRP,missense_variant,p.Arg248Cys,ENST00000368773,NM_001025231.1;KPRP,missense_variant,p.Arg248Cys,ENST00000606109,;	uc001fal.1	c.742C>T	770/2492	1	1			c.742C>T						1	SNP	c.(742-744)CGC>TGC	7	7			ovary(4)|pancreas(1)	5	Broad	keratinocyte proline-rich protein			152732806		0.612	ENSG00000203786	8292	g.chr1:152732806C>T		cytoplasm								94.378389	KEEP	16	22	-1	55	48	16	22	-1	100.293041	55	48	0.273437	1	0	0	0	0	1	0	0	0	--	--		0	T				55	GBM-06-0238-TP	p.R248C	C	TGAACAGCACCGCTCTCGGAG	NM_001025231	NP_001020402	152732806	Q5T749	KPRP_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		2	800	+	T	T	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Missense_Mutation	248						
KPRP	448834	broad.mit.edu	GRCh37	1	152732729	152732729	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01	TCGA-06-0645-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368773.1:c.665G>A	p.Arg222Gln	p.R222Q	ENST00000368773	NM_001025231.1	222	cGg/cAg	0			1			A	R/Q	uc001fal.1	protein_coding		CCDS30862.1			665/1740									ovary(4)|pancreas(1)	5	c.(664-666)CGG>CAG				keratinocyte proline-rich protein				ENSP00000475216		1-Jan									COSM2151277	1-Jan	.		ENST00000606109	Transcript				cytoplasm		ENSG00000203786	g.chr1:152732729G>A	31823			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=KPRP_HUMAN&rb=201&re=400&var=R222Q	NA	getma.org/?cm=var&var=hg19,1,152732729,G,A&fts=all	R222Q	--	--	1																																			1			benign(0)	p.R222Q	NM_001025231	NP_001020402		tolerated(1)	1	KPRP_HUMAN	KPRP	HGNC	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)				2	723	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		UPI0000199942	222					SNV	KPRP,missense_variant,p.Arg222Gln,ENST00000368773,NM_001025231.1;KPRP,missense_variant,p.Arg222Gln,ENST00000606109,;	uc001fal.1	c.665G>A	693/2492	1	1			c.665G>A						1	SNP	c.(664-666)CGG>CAG	64	64			ovary(4)|pancreas(1)	5	Broad	keratinocyte proline-rich protein			152732729		0.582	ENSG00000203786	8292	g.chr1:152732729G>A		cytoplasm								236.586168	KEEP	48	46	-1	76	76	48	46	-1	239.943769	76	76	0.364929	1	0	0	0	0	1	0	0	0	--	--		0	A				59	GBM-06-0645-TP	p.R222Q	G	CCTCAGTATCGGTCCCGGACT	NM_001025231	NP_001020402	152732729	Q5T749	KPRP_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		2	723	+	A	A	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Missense_Mutation	222						
KPRP	0	broad.mit.edu	GRCh37	1	152733665	152733665	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-12-0615-01	TCGA-12-0615-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000606109.1:c.1601G>T	p.Ser534Ile	p.S534I	ENST00000606109		534	aGt/aTt	0			1			T	S/I	uc001fal.1	protein_coding		CCDS30862.1			1601/1740									ovary(4)|pancreas(1)	5	c.(1600-1602)AGT>ATT			hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF98	keratinocyte proline-rich protein				ENSP00000475216		1-Jan									COSM363582	1-Jan	.		ENST00000606109	Transcript				cytoplasm		ENSG00000203786	g.chr1:152733665G>T	31823			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=KPRP_HUMAN&rb=401&re=579&var=S534I	NA	getma.org/?cm=var&var=hg19,1,152733665,G,T&fts=all	S534I	--	--	1																																			1			possibly_damaging(0.883)	p.S534I	NM_001025231	NP_001020402		deleterious_low_confidence(0)	1	KPRP_HUMAN	KPRP	HGNC	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)				2	1659	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		UPI0000199942	534					SNV	KPRP,missense_variant,p.Ser534Ile,ENST00000368773,NM_001025231.1;KPRP,missense_variant,p.Ser534Ile,ENST00000606109,;	uc001fal.1	c.1601G>T	1629/2492	2	2			c.1601G>T						1	SNP	c.(1600-1602)AGT>ATT	35	35			ovary(4)|pancreas(1)	5	Broad	keratinocyte proline-rich protein			152733665		0.582	ENSG00000203786	8292	g.chr1:152733665G>T		cytoplasm								178.238491	KEEP	37	43	0.4625	74	81	37	43	0.4625	183.931912	74	81	0.319797	1	0	0	0	0	1	0	0	0	--	--		0	T				117	GBM-12-0615-TP	p.S534I	G	GGCCCATCCAGTTACAACCAG	NM_001025231	NP_001020402	152733665	Q5T749	KPRP_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1659	+	T	T	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Missense_Mutation	534						
KPRP	0	broad.mit.edu	GRCh37	1	152733551	152733551	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01	TCGA-76-4926-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000606109.1:c.1487G>A	p.Arg496His	p.R496H	ENST00000606109		496	cGc/cAc	0			1			A	R/H	uc001fal.1	protein_coding		CCDS30862.1			1487/1740									ovary(4)|pancreas(1)	5	c.(1486-1488)CGC>CAC			hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF98	keratinocyte proline-rich protein				ENSP00000475216		1-Jan									COSM119767	1-Jan	.		ENST00000606109	Transcript				cytoplasm		ENSG00000203786	g.chr1:152733551G>A	31823			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=KPRP_HUMAN&rb=401&re=579&var=R496H	NA	getma.org/?cm=var&var=hg19,1,152733551,G,A&fts=all	R496H	--	--	1																																			1			benign(0.154)	p.R496H	NM_001025231	NP_001020402		tolerated_low_confidence(0.15)	1	KPRP_HUMAN	KPRP	HGNC	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)				2	1545	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		UPI0000199942	496			Pro-rich.		SNV	KPRP,missense_variant,p.Arg496His,ENST00000368773,NM_001025231.1;KPRP,missense_variant,p.Arg496His,ENST00000606109,;	uc001fal.1	c.1487G>A	1515/2492	1	1			c.1487G>A						1	SNP	c.(1486-1488)CGC>CAC	55	55			ovary(4)|pancreas(1)	5	Broad	keratinocyte proline-rich protein			152733551		0.647	ENSG00000203786	8292	g.chr1:152733551G>A		cytoplasm								136.658385	KEEP	23	35	-1	39	47	23	35	-1	137.852493	39	47	0.398496	1	0	0	0	0	1	0	0	0	--	--		0	A				266	GBM-76-4926-TP	p.R496H	G	GAGACTTGGCGCAGCCCCAGC	NM_001025231	NP_001020402	152733551	Q5T749	KPRP_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1545	+	A	A	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Missense_Mutation	496			Pro-rich.			
KPRP	0	broad.mit.edu	GRCh37	1	152732251	152732251	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6191-01	TCGA-76-6191-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000606109.1:c.187G>A	p.Ala63Thr	p.A63T	ENST00000606109		63	Gct/Act	0			1			A	A/T	uc001fal.1	protein_coding		CCDS30862.1			187/1740									ovary(4)|pancreas(1)	5	c.(187-189)GCT>ACT				keratinocyte proline-rich protein				ENSP00000475216		1-Jan										1-Jan	.		ENST00000606109	Transcript				cytoplasm		ENSG00000203786	g.chr1:152732251G>A	31823			MODERATE		1.645	low	getma.org/?cm=msa&ty=f&p=KPRP_HUMAN&rb=1&re=200&var=A63T	NA	getma.org/?cm=var&var=hg19,1,152732251,G,A&fts=all	A63T	--	--	1																																						benign(0.016)	p.A63T	NM_001025231	NP_001020402		tolerated_low_confidence(0.09)		KPRP_HUMAN	KPRP	HGNC	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)				2	245	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		UPI0000199942	63			Gln-rich.		SNV	KPRP,missense_variant,p.Ala63Thr,ENST00000368773,NM_001025231.1;KPRP,missense_variant,p.Ala63Thr,ENST00000606109,;	uc001fal.1	c.187G>A	215/2492	2	2			c.187G>A						1	SNP	c.(187-189)GCT>ACT	33	33			ovary(4)|pancreas(1)	5	Broad	keratinocyte proline-rich protein			152732251		0.552	ENSG00000203786	8292	g.chr1:152732251G>A		cytoplasm								144.487614	KEEP	24	27	-1	34	42	24	27	-1	145.527704	34	42	0.4	1	0	0	0	0	1	0	0	0	--	--		0	A				274	GBM-76-6191-TP	p.A63T	G	GTCAGACCAGGCTCCATGCCA	NM_001025231	NP_001020402	152732251	Q5T749	KPRP_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		2	245	+	A	A	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Missense_Mutation	63			Gln-rich.			
KPTN	0	broad.mit.edu	GRCh37	19	47979804	47979804	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2494-01	TCGA-32-2494-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338134.3:c.1167C>T	p.Gly389=	p.G389=	ENST00000338134	NM_007059.2	389	ggC/ggT	0		A:0.0008	1	A:0		A	G	uc002pgy.2	protein_coding	YES	CCDS42583.1			1167/1311									ovary(1)	1	c.(1165-1167)GGC>GGT			Gene3D:3nigC00,hmmpanther:PTHR15435,hmmpanther:PTHR15435:SF2	kaptin (actin binding protein)		A:0		ENSP00000337850	A:0	12-Nov	4.13E-05					1.57E-05		0.000256	rs562237338,COSM3404421	12-Nov	.		ENST00000338134	Transcript	1	A:0.0002	actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding	ENSG00000118162	g.chr19:47979804G>A	6404			LOW								--	--	1																																		KPTN_uc010xys.1_RNA	0,1	1			p.G389G	NM_007059	NP_008990	A:0		0,1	KPTN_HUMAN	KPTN	HGNC	Q9Y664	KPTN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)	M0R238_HUMAN,M0QZ83_HUMAN,B4DQ76_HUMAN		11	1271	-		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	UPI000007002E	389					SNV	KPTN,synonymous_variant,p.=,ENST00000338134,NM_007059.2;KPTN,synonymous_variant,p.=,ENST00000536339,;SLC8A2,upstream_gene_variant,,ENST00000236877,NM_015063.2;SLC8A2,upstream_gene_variant,,ENST00000542837,;SLC8A2,upstream_gene_variant,,ENST00000539381,;KPTN,downstream_gene_variant,,ENST00000595554,;KPTN,downstream_gene_variant,,ENST00000600271,;SLC8A2,upstream_gene_variant,,ENST00000594353,;SLC8A2,upstream_gene_variant,,ENST00000597014,;KPTN,downstream_gene_variant,,ENST00000595484,;KPTN,downstream_gene_variant,,ENST00000602193,;KPTN,upstream_gene_variant,,ENST00000600551,;KPTN,downstream_gene_variant,,ENST00000598699,;KPTN,3_prime_UTR_variant,,ENST00000594208,;KPTN,downstream_gene_variant,,ENST00000594139,;	uc002pgy.2	c.1167C>T	1275/1691	1	1			c.1167C>T						19	SNP	c.(1165-1167)GGC>GGT	51	51			ovary(1)	1	Broad	kaptin (actin binding protein)			47979804		0.627	ENSG00000118162	8293	g.chr19:47979804G>A	actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding							-1.91004	KEEP	1	2	-1	28	25	1	2	-1	7.390634	28	25	0.06383	1	0	0	0	0	0	0	1	0	--	--		0	A			KPTN_uc010xys.1_RNA	236	GBM-32-2494-TP	p.G389G	G	GGATGTGCACGCCCTTCAGGG	NM_007059	NP_008990	47979804	Q9Y664	KPTN_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)	11	1271	-	A	A		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	Silent	389						
KRAS	3845	broad.mit.edu	GRCh37	12	25398284	25398284	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-06-2561-01	TCGA-06-2561-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256078.4:c.35G>A	p.Gly12Asp	p.G12D	ENST00000256078	NM_033360.2	12	gGt/gAt	0			1			T	G/D	uc001rgp.1	protein_coding	YES	CCDS8703.1	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119	35/570	Mis				pancreatic|colorectal|lung|thyroid|AML|others	pathogenic		p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)	large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	c.(34-36)GGT>GAT			Gene3D:3.40.50.300,Pfam_domain:PF00071,Prints_domain:PR00449,PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF186,Low_complexity_(Seg):seg,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231	c-K-ras2 protein isoform a precursor				ENSP00000256078		6-Feb									rs121913529,COSM521,COSM1135366	6-Feb	.	Cardiofaciocutaneous_syndrome|Noonan_syndrome	ENST00000256078	Transcript	1		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	ENSG00000133703	g.chr12:25398284C>T	6407			MODERATE		3.245	medium	getma.org/?cm=msa&ty=f&p=RASK_HUMAN&rb=5&re=165&var=G12D	getma.org/pdb.php?prot=RASK_HUMAN&from=5&to=165&var=G12D	getma.org/?cm=var&var=hg19,12,25398284,C,T&fts=all	G12D	--	--	1				TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																														KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_RNA	1,1,1	1		benign(0.361)	p.G12D	NM_033360	NP_203524		deleterious(0)	0,1,1	RASK_HUMAN	KRAS	HGNC	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		Q9UM97_HUMAN,Q71SP6_HUMAN,P78460_HUMAN,L7RSL8_HUMAN,I1SRC5_HUMAN		2	216	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		UPI0000133132	12		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).	GTP.		SNV	KRAS,missense_variant,p.Gly12Asp,ENST00000311936,NM_004985.3;KRAS,missense_variant,p.Gly12Asp,ENST00000556131,;KRAS,missense_variant,p.Gly12Asp,ENST00000256078,NM_033360.2;KRAS,missense_variant,p.Gly12Asp,ENST00000557334,;	uc001rgp.1	c.35G>A	99/1119	1	1	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119	c.35G>A	Mis				pancreatic|colorectal|lung|thyroid|AML|others	12	SNP	c.(34-36)GGT>GAT	1	1		p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)	large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	Broad	c-K-ras2 protein isoform a precursor			25398284	Cardiofaciocutaneous_syndrome|Noonan_syndrome	0.348	ENSG00000133703	8294	g.chr12:25398284C>T	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	p.G12D(SNU1197-Tumor)|p.G12D(HEC1A-Tumor)|p.G12D(SKLU1-Tumor)|p.G12D(GP2D-Tumor)|p.G12A(MM1S-Tumor)|p.G12D(HCC1588-Tumor)|p.G12D(SNUC2A-Tumor)|p.G12D(SNU1033-Tumor)|p.G12A(KPNSI9S-Tumor)|p.G12A(NCIH1573-Tumor)|p.G12D(KARPAS620-Tumor)|p.G12D(KP1NL-Tumor)|p.G12D(MCAS-Tumor)|p.G12D(HPAFII-Tumor)|p.G12D(PANC04.03-Tumor)|p.G12D(PANC10.05-Tumor)|p.G12D(TGBC11TKB-Tumor)|p.G12D(LS513-Tumor)|p.G12D(SW1990-Tumor)|p.G12D(SNU601-Tumor)|p.G12A(COLO775-Tumor)|p.G12D(ASPC1-Tumor)|p.G12A(SW1116-Tumor)|p.G12D(CL40-Tumor)|p.G12D(HEC1B-Tumor)|p.G12D(LS180-Tumor)|p.G12D(HEYA8-Tumor)|p.G12D(KP1N-Tumor)|p.G12D(PK1-Tumor)|p.G12D(SU.86.86-Tumor)|p.G12A(RERFLCAD1-Tumor)|p.G12D(PANC08.13-Tumor)|p.G12D(HEC50B-Tumor)|p.G12A(NCIH2009-Tumor)|p.G12D(639V-Tumor)|p.G12D(SNU410-Tumor)|p.G12D(L3.3-Tumor)|p.G12D(SNU407-Tumor)|p.G12A(KMS28BM-Tumor)|p.G12D(PK59-Tumor)|p.G12V(SH10TC-Tumor)|p.G12D(PK45H-Tumor)|p.G12D(GSU-Tumor)|p.G12D(SNU869-Tumor)|p.G12D(HUCCT1-Tumor)|p.G12D(NCIH684-Tumor)|p.G12D(KP4-Tumor)|p.G12D(PANC02.03-Tumor)|p.G12A(RPMI8226-Tumor)|p.G12V(PANC03.27-Tumor)|p.G12D(SNU1-Tumor)|p.G12D(AGS-Tumor)|p.G12D(SNU8-Tumor)|p.G12D(T3M10-Tumor)	262	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	p.G12D(SNU1197-Tumor)|p.G12D(HEC1A-Tumor)|p.G12D(SKLU1-Tumor)|p.G12D(GP2D-Tumor)|p.G12A(MM1S-Tumor)|p.G12D(HCC1588-Tumor)|p.G12D(SNUC2A-Tumor)|p.G12D(SNU1033-Tumor)|p.G12A(KPNSI9S-Tumor)|p.G12A(NCIH1573-Tumor)|p.G12D(KARPAS620-Tumor)|p.G12D(KP1NL-Tumor)|p.G12D(MCAS-Tumor)|p.G12D(HPAFII-Tumor)|p.G12D(PANC04.03-Tumor)|p.G12D(PANC10.05-Tumor)|p.G12D(TGBC11TKB-Tumor)|p.G12D(LS513-Tumor)|p.G12D(SW1990-Tumor)|p.G12D(SNU601-Tumor)|p.G12A(COLO775-Tumor)|p.G12D(ASPC1-Tumor)|p.G12A(SW1116-Tumor)|p.G12D(CL40-Tumor)|p.G12D(HEC1B-Tumor)|p.G12D(LS180-Tumor)|p.G12D(HEYA8-Tumor)|p.G12D(KP1N-Tumor)|p.G12D(PK1-Tumor)|p.G12D(SU.86.86-Tumor)|p.G12A(RERFLCAD1-Tumor)|p.G12D(PANC08.13-Tumor)|p.G12D(HEC50B-Tumor)|p.G12A(NCIH2009-Tumor)|p.G12D(639V-Tumor)|p.G12D(SNU410-Tumor)|p.G12D(L3.3-Tumor)|p.G12D(SNU407-Tumor)|p.G12A(KMS28BM-Tumor)|p.G12D(PK59-Tumor)|p.G12V(SH10TC-Tumor)|p.G12D(PK45H-Tumor)|p.G12D(GSU-Tumor)|p.G12D(SNU869-Tumor)|p.G12D(HUCCT1-Tumor)|p.G12D(NCIH684-Tumor)|p.G12D(KP4-Tumor)|p.G12D(PANC02.03-Tumor)|p.G12A(RPMI8226-Tumor)|p.G12V(PANC03.27-Tumor)|p.G12D(SNU1-Tumor)|p.G12D(AGS-Tumor)|p.G12D(SNU8-Tumor)|p.G12D(T3M10-Tumor)	262	170.952575	KEEP	31	33	-1	22	22	31	33	-1	171.94534	22	22	0.613636	1	0	0	0	0	1	0	0	0	--	--	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	0	T			KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_RNA	84	GBM-06-2561-TP	p.G12D	C	GCCTACGCCACCAGCTCCAAC	NM_033360	NP_203524	25398284	P01116	RASK_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	216	-	T	T	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		Missense_Mutation	12		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).	GTP.			
KRAS	3845		GRCh37	12	25398284	25398284	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000256078.4:c.35G>A	p.Gly12Asp	p.G12D	ENST00000256078	NM_033360.2	12	gGt/gAt	0																																																																																																																																																																																																																																												
KRBA1	0	broad.mit.edu	GRCh37	7	149431067	149431067	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-26-5132-01	TCGA-26-5132-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319551.8:c.2841A>T	p.Gly947=	p.G947=	ENST00000319551		947	ggA/ggT	0			1			T	G	uc003wfz.2	protein_coding					2841/2910									ovary(1)|central_nervous_system(1)	2	c.(3022-3024)GGA>GGT			hmmpanther:PTHR22740	KRAB A domain containing 1				ENSP00000317165		16/16									COSM3411776	16/16	.		ENST00000319551	Transcript						ENSG00000133619	g.chr7:149431067A>T	22228			LOW								--	--	1																																		KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Silent_p.G615G	1				p.G1008G	NM_032534	NP_115923			1	KRBA1_HUMAN	KRBA1	HGNC	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		C9J5U6_HUMAN,C4P1W5_HUMAN		18	3423	+	Melanoma(164;0.165)|Ovarian(565;0.177)		UPI0001AE71AF	1008					SNV	KRBA1,synonymous_variant,p.=,ENST00000255992,NM_032534.2;KRBA1,synonymous_variant,p.=,ENST00000319551,;KRBA1,synonymous_variant,p.=,ENST00000485033,;KRBA1,non_coding_transcript_exon_variant,,ENST00000479560,;KRBA1,non_coding_transcript_exon_variant,,ENST00000466546,;KRBA1,3_prime_UTR_variant,,ENST00000496259,;KRBA1,downstream_gene_variant,,ENST00000489951,;	uc003wfz.2	c.3024A>T	3240/3837	1	1			c.3024A>T						7	SNP	c.(3022-3024)GGA>GGT	7	7			ovary(1)|central_nervous_system(1)	2	Broad	KRAB A domain containing 1			149431067		0.647	ENSG00000133619	8295	g.chr7:149431067A>T										21.932368	KEEP	6	5	-1	10	16	6	5	-1	22.937566	10	16	0.3125	1	0	0	0	0	0	0	1	0	--	--		0	T			KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Silent_p.G615G	181	GBM-26-5132-TP	p.G1008G	A	TGCTGGGAGGAGTGCAGAGGG	NM_032534	NP_115923	149431067	A5PL33	KRBA1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		18	3423	+	T	T	Melanoma(164;0.165)|Ovarian(565;0.177)		Silent	1008						
KRCC1	51315	broad.mit.edu	GRCh37	2	88327482	88327482	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01	TCGA-06-2559-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000347055.3:c.601G>A	p.Glu201Lys	p.E201K	ENST00000347055	NM_016618.1	201	Gag/Aag	0			1			T	E/K	uc002sso.1	protein_coding	YES	CCDS2000.1			601/780									ovary(1)	1	c.(601-603)GAG>AAG			hmmpanther:PTHR23067,hmmpanther:PTHR23067:SF36	lysine-rich coiled-coil 1				ENSP00000340083		4-Apr									COSM3408024	4-Apr	.		ENST00000347055	Transcript						ENSG00000172086	g.chr2:88327482C>T	28039			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=KRCC1_HUMAN&rb=201&re=259&var=E201K	NA	getma.org/?cm=var&var=hg19,2,88327482,C,T&fts=all	E201K	--	--	1																																		KRCC1_uc002ssp.1_Missense_Mutation_p.E201K	1	1		benign(0.006)	p.E201K	NM_016618	NP_057702		tolerated(0.43)	1	KRCC1_HUMAN	KRCC1	HGNC	Q9NPI7	KRCC1_HUMAN					4	995	-			UPI000004A006	201			Lys-rich.|Potential.		SNV	KRCC1,missense_variant,p.Glu201Lys,ENST00000347055,NM_016618.1;	uc002sso.1	c.601G>A	995/1753	2	2			c.601G>A						2	SNP	c.(601-603)GAG>AAG	30	30			ovary(1)	1	Broad	lysine-rich coiled-coil 1			88327482		0.398	ENSG00000172086	8297	g.chr2:88327482C>T										-73.406923	KEEP	12	9	-1	273	266	12	9	-1	42.026839	273	266	0.041257	1	0	0	0	0	1	0	0	0	--	--		0	T			KRCC1_uc002ssp.1_Missense_Mutation_p.E201K	83	GBM-06-2559-TP	p.E201K	C	ATTTCCACCTCTGTTTTCTTT	NM_016618	NP_057702	88327482	Q9NPI7	KRCC1_HUMAN	0			4	995	-	T	T			Missense_Mutation	201			Lys-rich.|Potential.			
KRT1	0	broad.mit.edu	GRCh37	12	53072002	53072002	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-5209-01	TCGA-28-5209-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252244.3:c.812A>G	p.Glu271Gly	p.E271G	ENST00000252244	NM_006121.3	271	gAg/gGg	0			1			C	E/G	uc001sau.1	protein_coding	YES	CCDS8836.1			812/1935									ovary(1)|skin(1)	2	c.(811-813)GAG>GGG			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,Prints_domain:PR01276,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF95,Superfamily_domains:SSF64593	keratin 1				ENSP00000252244		9-Mar									COSM3398829	9-Mar	.		ENST00000252244	Transcript	1		complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	ENSG00000167768	g.chr12:53072002T>C	6412			MODERATE		4.255	high	getma.org/?cm=msa&ty=f&p=K2C1_HUMAN&rb=179&re=492&var=E271G	getma.org/pdb.php?prot=K2C1_HUMAN&from=179&to=492&var=E271G	getma.org/?cm=var&var=hg19,12,53072002,T,C&fts=all	E271G	--	--	1																																		KRT1_uc001sav.1_Missense_Mutation_p.E271G	1	1		probably_damaging(0.999)	p.E271G	NM_006121	NP_006112		deleterious(0)	1	K2C1_HUMAN	KRT1	HGNC	P04264	K2C1_HUMAN			H6VRG1_HUMAN		3	871	-			UPI000013CD4D	271			Coil 1B.|Rod.		SNV	KRT1,missense_variant,p.Glu271Gly,ENST00000252244,NM_006121.3;KRT1,upstream_gene_variant,,ENST00000548765,;	uc001sau.1	c.812A>G	871/2451	4	4			c.812A>G						12	SNP	c.(811-813)GAG>GGG	47	47			ovary(1)|skin(1)	2	Broad	keratin 1			53072002		0.403	ENSG00000167768	8303	g.chr12:53072002T>C	complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding							-23.485377	KEEP	3	2	-1	59	73	3	2	-1	7.119154	59	73	0.02459	1	0	0	0	0	1	0	0	0	--	--		0	C			KRT1_uc001sav.1_Missense_Mutation_p.E271G	218	GBM-28-5209-TP	p.E271G	T	GATTTCATCCTCATACCTGCA	NM_006121	NP_006112	53072002	P04264	K2C1_HUMAN	0			3	871	-	C	C			Missense_Mutation	271			Coil 1B.|Rod.			
KRT12	0	broad.mit.edu	GRCh37	17	39021192	39021192	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01	TCGA-32-2494-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251643.4:c.673C>T	p.Arg225Cys	p.R225C	ENST00000251643	NM_000223.3	225	Cgc/Tgc	0	A:0		1			A	R/C	uc002hvk.2	protein_coding	YES	CCDS11378.1			673/1485									ovary(1)	1	c.(673-675)CGC>TGC			Pfam_domain:PF00038,hmmpanther:PTHR23239:SF115,hmmpanther:PTHR23239	keratin 12			A:0.0001	ENSP00000251643		8-Mar	8.24E-06							6.06E-05	rs368116028,COSM124021	8-Mar	.		ENST00000251643	Transcript	1		visual perception	intermediate filament	structural molecule activity	ENSG00000187242	g.chr17:39021192G>A	6414			MODERATE		2.845	medium	getma.org/?cm=msa&ty=f&p=K1C12_HUMAN&rb=124&re=439&var=R225C	getma.org/pdb.php?prot=K1C12_HUMAN&from=124&to=439&var=R225C	getma.org/?cm=var&var=hg19,17,39021192,G,A&fts=all	R225C	--	--	1																																			0,1	1		benign(0.061)	p.R225C	NM_000223	NP_000214		tolerated(0.08)	0,1	K1C12_HUMAN	KRT12	HGNC	Q99456	K1C12_HUMAN					3	697	-		Breast(137;0.000301)	UPI000012DAE4	225			Rod.|Coil 1B.		SNV	KRT12,missense_variant,p.Arg225Cys,ENST00000251643,NM_000223.3;RP5-1110E20.1,downstream_gene_variant,,ENST00000579136,;	uc002hvk.2	c.673C>T	697/1867	1	1			c.673C>T						17	SNP	c.(673-675)CGC>TGC	59	59			ovary(1)	1	Broad	keratin 12			39021192		0.552	ENSG00000187242	8305	g.chr17:39021192G>A	visual perception	intermediate filament	structural molecule activity							67.175223	KEEP	16	13	-1	38	42	16	13	-1	71.628063	38	42	0.27551	1	0	0	0	0	1	0	0	0	--	--		0	A				236	GBM-32-2494-TP	p.R225C	G	ACGCCCTGGCGCAGGGCCAGT	NM_000223	NP_000214	39021192	Q99456	K1C12_HUMAN	0			3	697	-	A	A		Breast(137;0.000301)	Missense_Mutation	225			Rod.|Coil 1B.			
KRT13	3860	broad.mit.edu	GRCh37	17	39659272	39659272	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000246635.3:c.814C>T	p.Arg272Cys	p.R272C	ENST00000246635	NM_153490.2	272	Cgc/Tgc	0		A:0	1	A:0		A	R/C	uc002hwu.1	protein_coding	YES	CCDS11396.1			814/1377									ovary(2)|skin(2)|pancreas(1)	5	c.(814-816)CGC>TGC			hmmpanther:PTHR23239:SF121,hmmpanther:PTHR23239,Pfam_domain:PF00038,Prints_domain:PR01248	keratin 13 isoform a		A:0		ENSP00000246635	A:0.001	8-Apr	8.24E-06			0.000116					rs202015813,COSM1302814	8-Apr	.		ENST00000246635	Transcript	1	A:0.0002	epidermis development	intermediate filament	structural molecule activity	ENSG00000171401	g.chr17:39659272G>A	6415			MODERATE		1.755	low	getma.org/?cm=msa&ty=f&p=K1C13_HUMAN&rb=103&re=415&var=R272C	getma.org/pdb.php?prot=K1C13_HUMAN&from=103&to=415&var=R272C	getma.org/?cm=var&var=hg19,17,39659272,G,A&fts=all	R272C	--	--	1																																		KRT13_uc002hwv.1_Missense_Mutation_p.R272C|KRT13_uc002hww.2_Missense_Mutation_p.R165C|KRT13_uc010wfr.1_Missense_Mutation_p.R165C|KRT13_uc010cxo.2_Missense_Mutation_p.R272C|KRT13_uc002hwx.1_Missense_Mutation_p.R260C	0,1	1		probably_damaging(0.982)	p.R272C	NM_153490	NP_705694	A:0	deleterious(0.04)	0,1	K1C13_HUMAN	KRT13	HGNC	P13646	K1C13_HUMAN			K7ERE3_HUMAN,K7EMD9_HUMAN		4	877	-		Breast(137;0.000286)	UPI000013CBF6	272			Linker 12.|Rod.		SNV	KRT13,missense_variant,p.Arg272Cys,ENST00000246635,NM_153490.2;KRT13,missense_variant,p.Arg272Cys,ENST00000336861,NM_002274.3;KRT13,missense_variant,p.Arg272Cys,ENST00000587544,;KRT13,missense_variant,p.Arg165Cys,ENST00000590425,;KRT13,downstream_gene_variant,,ENST00000587435,;AC019349.5,downstream_gene_variant,,ENST00000411759,;KRT13,downstream_gene_variant,,ENST00000587118,;KRT13,upstream_gene_variant,,ENST00000475217,;KRT13,3_prime_UTR_variant,,ENST00000464634,;KRT13,non_coding_transcript_exon_variant,,ENST00000468313,;	uc002hwu.1	c.814C>T	861/1699	1	1			c.814C>T						17	SNP	c.(814-816)CGC>TGC	61	61			ovary(2)|skin(2)|pancreas(1)	5	Broad	keratin 13 isoform a			39659272		0.602	ENSG00000171401	8306	g.chr17:39659272G>A	epidermis development	intermediate filament	structural molecule activity							560.284873	KEEP	124	74	-1	194	111	124	74	-1	563.810197	194	111	0.404494	1	0	0	0	0	1	0	0	0	--	--		0	A			KRT13_uc002hwv.1_Missense_Mutation_p.R272C|KRT13_uc002hww.2_Missense_Mutation_p.R165C|KRT13_uc010wfr.1_Missense_Mutation_p.R165C|KRT13_uc010cxo.2_Missense_Mutation_p.R272C|KRT13_uc002hwx.1_Missense_Mutation_p.R260C	23	GBM-06-0145-TP	p.R272C	G	GCCAGCACGCGGGTCAGGTCA	NM_153490	NP_705694	39659272	P13646	K1C13_HUMAN	0			4	877	-	A	A		Breast(137;0.000286)	Missense_Mutation	272			Linker 12.|Rod.			
KRT13	3860	broad.mit.edu	GRCh37	17	39659672	39659672	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01	TCGA-06-0169-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000246635.3:c.602G>A	p.Arg201His	p.R201H	ENST00000246635	NM_153490.2	201	cGc/cAc	0			1			T	R/H	uc002hwu.1	protein_coding	YES	CCDS11396.1			602/1377									ovary(2)|skin(2)|pancreas(1)	5	c.(601-603)CGC>CAC			hmmpanther:PTHR23239:SF121,hmmpanther:PTHR23239,Pfam_domain:PF00038	keratin 13 isoform a				ENSP00000246635		8-Mar	8.24E-06	9.70E-05							rs781291691,COSM979206	8-Mar	.		ENST00000246635	Transcript	1		epidermis development	intermediate filament	structural molecule activity	ENSG00000171401	g.chr17:39659672C>T	6415			MODERATE		2.465	medium	getma.org/?cm=msa&ty=f&p=K1C13_HUMAN&rb=103&re=415&var=R201H	getma.org/pdb.php?prot=K1C13_HUMAN&from=103&to=415&var=R201H	getma.org/?cm=var&var=hg19,17,39659672,C,T&fts=all	R201H	--	--	1																																		KRT13_uc002hwv.1_Missense_Mutation_p.R201H|KRT13_uc002hww.2_Missense_Mutation_p.R94H|KRT13_uc010wfr.1_Missense_Mutation_p.R94H|KRT13_uc010cxo.2_Missense_Mutation_p.R201H|KRT13_uc002hwx.1_Missense_Mutation_p.R189H	0,1	1		possibly_damaging(0.597)	p.R201H	NM_153490	NP_705694		tolerated(0.06)	0,1	K1C13_HUMAN	KRT13	HGNC	P13646	K1C13_HUMAN			K7ERE3_HUMAN,K7EMD9_HUMAN		3	665	-		Breast(137;0.000286)	UPI000013CBF6	201			Coil 1B.|Rod.		SNV	KRT13,missense_variant,p.Arg201His,ENST00000246635,NM_153490.2;KRT13,missense_variant,p.Arg201His,ENST00000336861,NM_002274.3;KRT13,missense_variant,p.Arg201His,ENST00000587544,;KRT13,missense_variant,p.Arg94His,ENST00000590425,;KRT13,intron_variant,,ENST00000587435,;AC019349.5,downstream_gene_variant,,ENST00000411759,;KRT13,downstream_gene_variant,,ENST00000587118,;KRT13,upstream_gene_variant,,ENST00000475217,;KRT13,3_prime_UTR_variant,,ENST00000464634,;KRT13,non_coding_transcript_exon_variant,,ENST00000468313,;	uc002hwu.1	c.602G>A	649/1699	1	1			c.602G>A						17	SNP	c.(601-603)CGC>CAC	1	1			ovary(2)|skin(2)|pancreas(1)	5	Broad	keratin 13 isoform a			39659672		0.478	ENSG00000171401	8306	g.chr17:39659672C>T	epidermis development	intermediate filament	structural molecule activity							99.525488	KEEP	20	18	-1	51	56	20	18	-1	105.727454	51	56	0.274074	1	0	0	0	0	1	0	0	0	--	--		0	T			KRT13_uc002hwv.1_Missense_Mutation_p.R201H|KRT13_uc002hww.2_Missense_Mutation_p.R94H|KRT13_uc010wfr.1_Missense_Mutation_p.R94H|KRT13_uc010cxo.2_Missense_Mutation_p.R201H|KRT13_uc002hwx.1_Missense_Mutation_p.R189H	34	GBM-06-0169-TP	p.R201H	C	CACGCTCTGGCGCAGGGCCAG	NM_153490	NP_705694	39659672	P13646	K1C13_HUMAN	0			3	665	-	T	T		Breast(137;0.000286)	Missense_Mutation	201			Coil 1B.|Rod.			
KRT13	3860	broad.mit.edu	GRCh37	17	39661434	39661434	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0939-01	TCGA-06-0939-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000246635.3:c.369C>T	p.Arg123=	p.R123=	ENST00000246635	NM_153490.2	123	cgC/cgT	0			1			A	R	uc002hwu.1	protein_coding	YES	CCDS11396.1			369/1377									ovary(2)|skin(2)|pancreas(1)	5	c.(367-369)CGC>CGT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF121,hmmpanther:PTHR23239,Pfam_domain:PF00038,Superfamily_domains:SSF64593	keratin 13 isoform a				ENSP00000246635		8-Jan	1.65E-05					1.50E-05		6.06E-05	rs746913289,COSM2152411	8-Jan	.		ENST00000246635	Transcript	1		epidermis development	intermediate filament	structural molecule activity	ENSG00000171401	g.chr17:39661434G>A	6415			LOW								--	--	1																																		KRT13_uc002hwv.1_Silent_p.R123R|KRT13_uc002hww.2_Silent_p.R16R|KRT13_uc010wfr.1_Silent_p.R16R|KRT13_uc010cxo.2_Silent_p.R123R|KRT13_uc002hwx.1_Silent_p.R111R	0,1	1			p.R123R	NM_153490	NP_705694			0,1	K1C13_HUMAN	KRT13	HGNC	P13646	K1C13_HUMAN			K7ERE3_HUMAN,K7EMD9_HUMAN		1	432	-		Breast(137;0.000286)	UPI000013CBF6	123			Coil 1A.|Rod.		SNV	KRT13,synonymous_variant,p.=,ENST00000246635,NM_153490.2;KRT13,synonymous_variant,p.=,ENST00000336861,NM_002274.3;KRT13,synonymous_variant,p.=,ENST00000587544,;KRT13,synonymous_variant,p.=,ENST00000590425,;KRT13,synonymous_variant,p.=,ENST00000587435,;AC019349.5,downstream_gene_variant,,ENST00000411759,;KRT13,upstream_gene_variant,,ENST00000587118,;KRT13,upstream_gene_variant,,ENST00000475217,;KRT13,missense_variant,p.Ala53Val,ENST00000464634,;KRT13,non_coding_transcript_exon_variant,,ENST00000468313,;	uc002hwu.1	c.369C>T	416/1699	2	2			c.369C>T						17	SNP	c.(367-369)CGC>CGT	26	26			ovary(2)|skin(2)|pancreas(1)	5	Broad	keratin 13 isoform a			39661434		0.532	ENSG00000171401	8306	g.chr17:39661434G>A	epidermis development	intermediate filament	structural molecule activity							150.936178	KEEP	35	35	-1	74	75	35	35	-1	156.516992	74	75	0.312849	1	0	0	0	0	0	0	1	0	--	--		0	A			KRT13_uc002hwv.1_Silent_p.R123R|KRT13_uc002hww.2_Silent_p.R16R|KRT13_uc010wfr.1_Silent_p.R16R|KRT13_uc010cxo.2_Silent_p.R123R|KRT13_uc002hwx.1_Silent_p.R111R	78	GBM-06-0939-TP	p.R123R	G	CCTCCAGGGCGCGCACCTTCT	NM_153490	NP_705694	39661434	P13646	K1C13_HUMAN	0			1	432	-	A	A		Breast(137;0.000286)	Silent	123			Coil 1A.|Rod.			
KRT13	0	broad.mit.edu	GRCh37	17	39661389	39661389	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4929-01	TCGA-76-4929-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000246635.3:c.414C>T	p.Asp138=	p.D138=	ENST00000246635	NM_153490.2	138	gaC/gaT	0			1			A	D	uc002hwu.1	protein_coding	YES	CCDS11396.1			414/1377									ovary(2)|skin(2)|pancreas(1)	5	c.(412-414)GAC>GAT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF121,hmmpanther:PTHR23239,Pfam_domain:PF00038	keratin 13 isoform a				ENSP00000246635		8-Jan									COSM3187421	8-Jan	.		ENST00000246635	Transcript	1		epidermis development	intermediate filament	structural molecule activity	ENSG00000171401	g.chr17:39661389G>A	6415			LOW								--	--	1																																		KRT13_uc002hwv.1_Silent_p.D138D|KRT13_uc002hww.2_Silent_p.D31D|KRT13_uc010wfr.1_Silent_p.D31D|KRT13_uc010cxo.2_Silent_p.D138D|KRT13_uc002hwx.1_Silent_p.D126D	1	1			p.D138D	NM_153490	NP_705694			1	K1C13_HUMAN	KRT13	HGNC	P13646	K1C13_HUMAN			K7ERE3_HUMAN,K7EMD9_HUMAN		1	477	-		Breast(137;0.000286)	UPI000013CBF6	138			Coil 1A.|Rod.		SNV	KRT13,synonymous_variant,p.=,ENST00000246635,NM_153490.2;KRT13,synonymous_variant,p.=,ENST00000336861,NM_002274.3;KRT13,synonymous_variant,p.=,ENST00000587544,;KRT13,synonymous_variant,p.=,ENST00000590425,;KRT13,intron_variant,,ENST00000587435,;AC019349.5,downstream_gene_variant,,ENST00000411759,;KRT13,upstream_gene_variant,,ENST00000587118,;KRT13,upstream_gene_variant,,ENST00000475217,;KRT13,3_prime_UTR_variant,,ENST00000464634,;KRT13,non_coding_transcript_exon_variant,,ENST00000468313,;	uc002hwu.1	c.414C>T	461/1699	2	2			c.414C>T						17	SNP	c.(412-414)GAC>GAT	47	47			ovary(2)|skin(2)|pancreas(1)	5	Broad	keratin 13 isoform a			39661389		0.602	ENSG00000171401	8306	g.chr17:39661389G>A	epidermis development	intermediate filament	structural molecule activity							238.377733	KEEP	43	42	-1	55	72	43	42	-1	240.146682	55	72	0.39899	1	0	0	0	0	0	0	1	0	--	--		0	A			KRT13_uc002hwv.1_Silent_p.D138D|KRT13_uc002hww.2_Silent_p.D31D|KRT13_uc010wfr.1_Silent_p.D31D|KRT13_uc010cxo.2_Silent_p.D138D|KRT13_uc002hwx.1_Silent_p.D126D	269	GBM-76-4929-TP	p.D138D	G	TCAGGTGCCAGTCACGGATCT	NM_153490	NP_705694	39661389	P13646	K1C13_HUMAN	0			1	477	-	A	A		Breast(137;0.000286)	Silent	138			Coil 1A.|Rod.			
KRT14	3861	broad.mit.edu	GRCh37	17	39741254	39741254	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01	TCGA-06-0169-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000167586.6:c.581G>A	p.Arg194His	p.R194H	ENST00000167586	NM_000526.4	194	cGt/cAt	0			1			T	R/H	uc002hxf.1	protein_coding	YES	CCDS11400.1			581/1419									ovary(1)	1	c.(580-582)CGT>CAT			Pfam_domain:PF00038,Prints_domain:PR01248,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF105	keratin 14				ENSP00000167586		8-Feb	2.47E-05					3.00E-05		6.06E-05	rs772876124,COSM3402890	8-Feb	.		ENST00000167586	Transcript	1		epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	ENSG00000186847	g.chr17:39741254C>T	6416			MODERATE		1.94	medium	getma.org/?cm=msa&ty=f&p=K1C14_HUMAN&rb=114&re=425&var=R194H	getma.org/pdb.php?prot=K1C14_HUMAN&from=114&to=425&var=R194H	getma.org/?cm=var&var=hg19,17,39741254,C,T&fts=all	R194H	--	--	1																																		JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Missense_Mutation_p.R194H	0,1	1		benign(0.329)	p.R194H	NM_000526	NP_000517		deleterious(0.03)	0,1	K1C14_HUMAN	KRT14	HGNC	P02533	K1C14_HUMAN			K7ENV3_HUMAN		2	642	-		Breast(137;0.000307)	UPI00001AE5AA	194			Coil 1B.|Rod.		SNV	KRT14,missense_variant,p.Arg194His,ENST00000167586,NM_000526.4;KRT14,upstream_gene_variant,,ENST00000441550,;KRT14,upstream_gene_variant,,ENST00000476662,;	uc002hxf.1	c.581G>A	668/1662	2	2			c.581G>A						17	SNP	c.(580-582)CGT>CAT	27	27			ovary(1)	1	Broad	keratin 14			39741254		0.502	ENSG00000186847	8307	g.chr17:39741254C>T	epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton							24.892107	KEEP	9	6	-1	44	35	9	6	-1	32.453985	44	35	0.179487	1	0	0	0	0	1	0	0	0	--	--		0	T			JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Missense_Mutation_p.R194H	34	GBM-06-0169-TP	p.R194H	C	CGCGGCCAGACGGGCATTGTC	NM_000526	NP_000517	39741254	P02533	K1C14_HUMAN	0			2	642	-	T	T		Breast(137;0.000307)	Missense_Mutation	194			Coil 1B.|Rod.			
KRT14	3861		GRCh37	17	39742796	39742796	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000167586.6:c.291T>G	p.Gly97=	p.G97=	ENST00000167586	NM_000526.4	97	ggT/ggG	0																																																																																																																																																																																																																																												
KRT15	3866	broad.mit.edu	GRCh37	17	39673185	39673185	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs138271368		TCGA-02-0047-01	TCGA-02-0047-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254043.3:c.613G>A	p.Val205Ile	p.V205I	ENST00000254043	NM_002275.3	205	Gtt/Att	0	T:0.0002	T:0	1	T:0.0014		T	V/I	uc002hwy.2	protein_coding	YES	CCDS11398.1			613/1371										0	c.(613-615)GTT>ATT			hmmpanther:PTHR23239:SF164,hmmpanther:PTHR23239,Pfam_domain:PF00038,Prints_domain:PR01248	keratin 15		T:0.001	T:0	ENSP00000254043	T:0	8-Mar	0.000156	0.000288		0.000578		7.49E-05		0.000363	rs138271368,COSM215684	8-Mar	common_variant		ENST00000254043	Transcript		T:0.0004	epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	ENSG00000171346	g.chr17:39673185C>T	6421			MODERATE		3.385	medium	getma.org/?cm=msa&ty=f&p=K1C15_HUMAN&rb=104&re=416&var=V205I	getma.org/pdb.php?prot=K1C15_HUMAN&from=104&to=416&var=V205I	getma.org/?cm=var&var=hg19,17,39673185,C,T&fts=all	V205I	--	--	1																																		KRT15_uc002hwz.2_Missense_Mutation_p.V107I|KRT15_uc002hxa.2_Missense_Mutation_p.V40I|KRT15_uc002hxb.1_Missense_Mutation_p.V40I	0,1	1		possibly_damaging(0.655)	p.V205I	NM_002275	NP_002266	T:0	deleterious(0.01)	0,1	K1C15_HUMAN	KRT15	HGNC	P19012	K1C15_HUMAN					3	804	-		Breast(137;0.000286)	UPI000013CE0E	205			Rod.|Coil 1B.		SNV	KRT15,missense_variant,p.Val205Ile,ENST00000254043,NM_002275.3;KRT15,missense_variant,p.Val40Ile,ENST00000393974,;KRT15,missense_variant,p.Val40Ile,ENST00000393981,;KRT15,missense_variant,p.Val205Ile,ENST00000393976,;KRT15,missense_variant,p.Val40Ile,ENST00000458290,;KRT15,synonymous_variant,p.=,ENST00000497016,;KRT15,3_prime_UTR_variant,,ENST00000470004,;KRT15,non_coding_transcript_exon_variant,,ENST00000474031,;KRT15,non_coding_transcript_exon_variant,,ENST00000463447,;KRT15,upstream_gene_variant,,ENST00000586794,;	uc002hwy.2	c.613G>A	4199/5237	2	2			c.613G>A						17	SNP	c.(613-615)GTT>ATT	43	43				0	Broad	keratin 15			39673185		0.612	ENSG00000171346	8308	g.chr17:39673185C>T	epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton							141.316213	KEEP	30	34	-1	54	70	30	34	-1	142.925408	54	70	0.381679	1	0	0	0	0	1	0	0	0	--	--		0	T			KRT15_uc002hwz.2_Missense_Mutation_p.V107I|KRT15_uc002hxa.2_Missense_Mutation_p.V40I|KRT15_uc002hxb.1_Missense_Mutation_p.V40I	3	GBM-02-0047-TP	p.V205I	C	TCAGCCTCAACGCCCTGGCGC	NM_002275	NP_002266	39673185	P19012	K1C15_HUMAN	0			3	804	-	T	T		Breast(137;0.000286)	Missense_Mutation	205			Rod.|Coil 1B.			
KRT15	3866	broad.mit.edu	GRCh37	17	39673161	39673161	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0879-01	TCGA-06-0879-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254043.3:c.637C>T	p.Arg213Cys	p.R213C	ENST00000254043	NM_002275.3	213	Cgc/Tgc	0			1			A	R/C	uc002hwy.2	protein_coding	YES	CCDS11398.1			637/1371										0	c.(637-639)CGC>TGC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF164,hmmpanther:PTHR23239,Pfam_domain:PF00038,Prints_domain:PR01248	keratin 15				ENSP00000254043		8-Mar	3.29E-05					1.50E-05		0.000182	rs755775681,COSM3748014	8-Mar	.		ENST00000254043	Transcript			epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	ENSG00000171346	g.chr17:39673161G>A	6421			MODERATE		2.31	medium	getma.org/?cm=msa&ty=f&p=K1C15_HUMAN&rb=104&re=416&var=R213C	getma.org/pdb.php?prot=K1C15_HUMAN&from=104&to=416&var=R213C	getma.org/?cm=var&var=hg19,17,39673161,G,A&fts=all	R213C	--	--	1																																		KRT15_uc002hwz.2_Missense_Mutation_p.R115C|KRT15_uc002hxa.2_Missense_Mutation_p.R48C|KRT15_uc002hxb.1_Missense_Mutation_p.R48C	0,1	1		probably_damaging(0.996)	p.R213C	NM_002275	NP_002266		deleterious(0.03)	0,1	K1C15_HUMAN	KRT15	HGNC	P19012	K1C15_HUMAN					3	828	-		Breast(137;0.000286)	UPI000013CE0E	213			Rod.|Coil 1B.		SNV	KRT15,missense_variant,p.Arg213Cys,ENST00000254043,NM_002275.3;KRT15,missense_variant,p.Arg48Cys,ENST00000393974,;KRT15,missense_variant,p.Arg48Cys,ENST00000393981,;KRT15,missense_variant,p.Arg213Cys,ENST00000393976,;KRT15,missense_variant,p.Arg48Cys,ENST00000458290,;KRT15,synonymous_variant,p.=,ENST00000497016,;KRT15,3_prime_UTR_variant,,ENST00000470004,;KRT15,non_coding_transcript_exon_variant,,ENST00000474031,;KRT15,non_coding_transcript_exon_variant,,ENST00000463447,;KRT15,upstream_gene_variant,,ENST00000586794,;	uc002hwy.2	c.637C>T	4223/5237	2	2			c.637C>T						17	SNP	c.(637-639)CGC>TGC	28	28				0	Broad	keratin 15			39673161		0.592	ENSG00000171346	8308	g.chr17:39673161G>A	epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton							-18.766635	KEEP	8	4	-1	53	70	8	4	-1	6.861829	53	70	0.036364	1	0	0	0	0	1	0	0	0	--	--		0	A			KRT15_uc002hwz.2_Missense_Mutation_p.R115C|KRT15_uc002hxa.2_Missense_Mutation_p.R48C|KRT15_uc002hxb.1_Missense_Mutation_p.R48C	75	GBM-06-0879-TP	p.R213C	G	AGGACTCGGCGCAAGCCGTTG	NM_002275	NP_002266	39673161	P19012	K1C15_HUMAN	0			3	828	-	A	A		Breast(137;0.000286)	Missense_Mutation	213			Rod.|Coil 1B.			
KRT16	3868	broad.mit.edu	GRCh37	17	39767641	39767641	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0749-01	TCGA-06-0749-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301653.4:c.727G>A	p.Gly243Ser	p.G243S	ENST00000301653	NM_005557.3	243	Ggc/Agc	0	T:0.0002		1			T	G/S	uc002hxg.3	protein_coding	YES	CCDS11401.1			727/1422									skin(1)	1	c.(727-729)GGC>AGC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF105,Pfam_domain:PF00038	keratin 16			T:0	ENSP00000301653		8-Mar	1.65E-05	0.000192							rs370377321,COSM2151878	8-Mar	.		ENST00000301653	Transcript	1		cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	ENSG00000186832	g.chr17:39767641C>T	6423			MODERATE		-1.51	neutral	getma.org/?cm=msa&ty=f&p=K1C16_HUMAN&rb=116&re=427&var=G243S	getma.org/pdb.php?prot=K1C16_HUMAN&from=116&to=427&var=G243S	getma.org/?cm=var&var=hg19,17,39767641,C,T&fts=all	G243S	--	--	1																																		JUP_uc010wfs.1_Intron	0,1	1		benign(0.041)	p.G243S	NM_005557	NP_005548		tolerated(1)	0,1	K1C16_HUMAN	KRT16	HGNC	P08779	K1C16_HUMAN			K7ENW6_HUMAN,K7ENV3_HUMAN		3	866	-		Breast(137;0.000307)	UPI0000001C7B	243			Coil 1B.|Rod.		SNV	KRT16,missense_variant,p.Gly243Ser,ENST00000301653,NM_005557.3;KRT16,missense_variant,p.Gly5Ser,ENST00000593067,;KRT16,downstream_gene_variant,,ENST00000590990,;KRT16,downstream_gene_variant,,ENST00000588319,;	uc002hxg.3	c.727G>A	792/1644	2	2			c.727G>A						17	SNP	c.(727-729)GGC>AGC	28	28			skin(1)	1	Broad	keratin 16			39767641		0.642	ENSG00000186832	8309	g.chr17:39767641C>T	cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton							152.168218	KEEP	30	24	-1	61	53	30	24	-1	156.974168	61	53	0.31677	1	0	0	0	0	1	0	0	0	--	--		0	T			JUP_uc010wfs.1_Intron	69	GBM-06-0749-TP	p.G243S	C	TCCTTCAGGCCTTCGATCTGC	NM_005557	NP_005548	39767641	P08779	K1C16_HUMAN	0			3	866	-	T	T		Breast(137;0.000307)	Missense_Mutation	243			Coil 1B.|Rod.			
KRT16	0	broad.mit.edu	GRCh37	17	39768925	39768925	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01	TCGA-32-4213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301653.4:c.16C>T	p.Arg6Cys	p.R6C	ENST00000301653	NM_005557.3	6	Cgc/Tgc	0			1			A	R/C	uc002hxg.3	protein_coding	YES	CCDS11401.1			16/1422									skin(1)	1	c.(16-18)CGC>TGC				keratin 16				ENSP00000301653		8-Jan	2.49E-05					3.77E-05			rs752729625,COSM3402892	8-Jan	.		ENST00000301653	Transcript	1		cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	ENSG00000186832	g.chr17:39768925G>A	6423			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=K1C16_HUMAN&rb=1&re=115&var=R6C	NA	getma.org/?cm=var&var=hg19,17,39768925,G,A&fts=all	R6C	--	--	1																																		JUP_uc010wfs.1_Intron	0,1	1		unknown(0)	p.R6C	NM_005557	NP_005548		tolerated(0.07)	0,1	K1C16_HUMAN	KRT16	HGNC	P08779	K1C16_HUMAN			K7ENW6_HUMAN,K7ENV3_HUMAN		1	155	-		Breast(137;0.000307)	UPI0000001C7B	6			Head.		SNV	KRT16,missense_variant,p.Arg6Cys,ENST00000301653,NM_005557.3;KRT16,missense_variant,p.Arg6Cys,ENST00000590990,;KRT16,intron_variant,,ENST00000593067,;KRT16,non_coding_transcript_exon_variant,,ENST00000588319,;	uc002hxg.3	c.16C>T	81/1644	2	2			c.16C>T						17	SNP	c.(16-18)CGC>TGC	22	22			skin(1)	1	Broad	keratin 16			39768925		0.657	ENSG00000186832	8309	g.chr17:39768925G>A	cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton							10.090253	KEEP	2	2	-1	5	11	2	2	-1	11.180552	5	11	0.235294	1	0	0	0	0	1	0	0	0	--	--		0	A			JUP_uc010wfs.1_Intron	247	GBM-32-4213-TP	p.R6C	G	GTGAACTGGCGGCTGCAGGTG	NM_005557	NP_005548	39768925	P08779	K1C16_HUMAN	0			1	155	-	A	A		Breast(137;0.000307)	Missense_Mutation	6			Head.			
KRT16	0	broad.mit.edu	GRCh37	17	39766792	39766792	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4934-01	TCGA-76-4934-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301653.4:c.1071G>A	p.Leu357=	p.L357=	ENST00000301653	NM_005557.3	357	ctG/ctA	0	T:0.0002		1			T	L	uc002hxg.3	protein_coding	YES	CCDS11401.1			1071/1422									skin(1)	1	c.(1069-1071)CTG>CTA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF105,Pfam_domain:PF00038,Gene3D:1.20.5.170,Superfamily_domains:SSF64593,Prints_domain:PR01248	keratin 16			T:0	ENSP00000301653		8-Jun									rs375085095,COSM3402891	8-Jun	.		ENST00000301653	Transcript	1		cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	ENSG00000186832	g.chr17:39766792C>T	6423			LOW								--	--	1																																		JUP_uc010wfs.1_Intron	0,1	1			p.L357L	NM_005557	NP_005548			0,1	K1C16_HUMAN	KRT16	HGNC	P08779	K1C16_HUMAN			K7ENW6_HUMAN,K7ENV3_HUMAN		6	1210	-		Breast(137;0.000307)	UPI0000001C7B	357			Rod.|Coil 2.		SNV	KRT16,synonymous_variant,p.=,ENST00000301653,NM_005557.3;KRT16,synonymous_variant,p.=,ENST00000593067,;KRT16,downstream_gene_variant,,ENST00000590990,;KRT16,downstream_gene_variant,,ENST00000588319,;	uc002hxg.3	c.1071G>A	1136/1644	1	1			c.1071G>A						17	SNP	c.(1069-1071)CTG>CTA	1	1			skin(1)	1	Broad	keratin 16			39766792		0.522	ENSG00000186832	8309	g.chr17:39766792C>T	cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton							-30.041759	KEEP	2	2	-1	75	78	2	2	-1	6.535838	75	78	0.027027	1	0	0	0	0	0	0	1	0	--	--		0	T			JUP_uc010wfs.1_Intron	272	GBM-76-4934-TP	p.L357L	C	GGCTGTTCTCCAGGGATGCTT	NM_005557	NP_005548	39766792	P08779	K1C16_HUMAN	0			6	1210	-	T	T		Breast(137;0.000307)	Silent	357			Rod.|Coil 2.			
KRT16	3868		GRCh37	17	39767345	39767345	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000301653.4:c.909C>T	p.Asp303=	p.D303=	ENST00000301653	NM_005557.3	303	gaC/gaT	0																																																																																																																																																																																																																																												
KRT16P2	400578		GRCh37	17	16734509	16734509	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000399048.2:n.952C>A		p.*318*	ENST00000399048				0																																																																																																																																																																																																																																												
KRT18	3875	broad.mit.edu	GRCh37	12	53343221	53343221	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2563-01	TCGA-06-2563-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388835.3:c.264C>T	p.Asn88=	p.N88=	ENST00000388835	NM_000224.2	88	aaC/aaT	0			1			T	N	uc001sbe.2	protein_coding	YES	CCDS31809.1			264/1293									skin(1)	1	c.(262-264)AAC>AAT			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF35,Superfamily_domains:SSF64593	keratin 18				ENSP00000373487		7-Jan									COSM2152874	7-Jan	.		ENST00000388835	Transcript	1		anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity	ENSG00000111057	g.chr12:53343221C>T	6430			LOW								--	--	1																																		KRT18_uc009zmn.1_Silent_p.N88N|KRT18_uc001sbf.1_Translation_Start_Site|KRT18_uc001sbg.2_Silent_p.N88N|KRT18_uc009zmo.2_Silent_p.N88N|KRT8_uc009zml.1_Intron|KRT8_uc009zmm.1_Intron	1	1			p.N88N	NM_199187	NP_954657			1	K1C18_HUMAN	KRT18	HGNC	P05783	K1C18_HUMAN			I6L965_HUMAN		2	333	+			UPI000004284B	88			Coil 1A.|Rod.|Interaction with TRADD.|Necessary for interaction with PNN.		SNV	KRT18,synonymous_variant,p.=,ENST00000550600,;KRT18,synonymous_variant,p.=,ENST00000388835,NM_000224.2;KRT18,synonymous_variant,p.=,ENST00000388837,NM_199187.1;KRT8,intron_variant,,ENST00000552551,;KRT8,intron_variant,,ENST00000546897,NM_001256293.1;KRT8,intron_variant,,ENST00000546826,;KRT8,intron_variant,,ENST00000548998,;AC107016.2,upstream_gene_variant,,ENST00000581256,;KRT8,intron_variant,,ENST00000549198,;KRT8,intron_variant,,ENST00000551318,;KRT8,intron_variant,,ENST00000552877,;KRT18,non_coding_transcript_exon_variant,,ENST00000549078,;KRT8,non_coding_transcript_exon_variant,,ENST00000546921,;KRT18,upstream_gene_variant,,ENST00000548015,;KRT18,upstream_gene_variant,,ENST00000548496,;KRT18,upstream_gene_variant,,ENST00000546656,;AC107016.1,downstream_gene_variant,,ENST00000432903,;	uc001sbe.2	c.264C>T	474/1562	1	1			c.264C>T						12	SNP	c.(262-264)AAC>AAT	3	3			skin(1)	1	Broad	keratin 18			53343221		0.647	ENSG00000111057	8311	g.chr12:53343221C>T	anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity							57.285781	KEEP	11	11	-1	13	24	11	11	-1	58.083193	13	24	0.37037	1	0	0	0	0	0	0	1	0	--	--		0	T			KRT18_uc009zmn.1_Silent_p.N88N|KRT18_uc001sbf.1_Translation_Start_Site|KRT18_uc001sbg.2_Silent_p.N88N|KRT18_uc009zmo.2_Silent_p.N88N|KRT8_uc009zml.1_Intron|KRT8_uc009zmm.1_Intron	86	GBM-06-2563-TP	p.N88N	C	AAAGCCTGAACGACCGCCTGG	NM_199187	NP_954657	53343221	P05783	K1C18_HUMAN	0			2	333	+	T	T			Silent	88			Coil 1A.|Rod.|Interaction with TRADD.|Necessary for interaction with PNN.			
KRT19	0	broad.mit.edu	GRCh37	17	39680449	39680449	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-27-1833-01	TCGA-27-1833-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361566.3:c.894C>A	p.Asp298Glu	p.D298E	ENST00000361566	NM_002276.4	298	gaC/gaA	0			1			T	D/E	uc010wfs.1	protein_coding	YES	CCDS11399.1			894/1203									ovary(2)|lung(2)|breast(1)	5	c.(1381-1383)GAC>GAA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF107,Pfam_domain:PF00038,Superfamily_domains:SSF46579	junction plakoglobin				ENSP00000355124		6-May									COSM3402888	6-May	.		ENST00000361566	Transcript			adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	ENSG00000171345	g.chr17:39680449G>T	6436			MODERATE		-0.655	neutral	getma.org/?cm=msa&ty=f&p=K1C19_HUMAN&rb=79&re=390&var=D298E	getma.org/pdb.php?prot=K1C19_HUMAN&from=79&to=390&var=D298E	getma.org/?cm=var&var=hg19,17,39680449,G,T&fts=all	D298E	--	--	1																																		KRT15_uc002hxb.1_5'Flank|uc002hxc.1_5'Flank|KRT19_uc002hxd.3_Missense_Mutation_p.D298E	1	1		benign(0.09)	p.D461E	NM_021991	NP_068831		tolerated(1)	1	K1C19_HUMAN	KRT19	HGNC	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	K7EMS3_HUMAN		8	1391	-		Breast(137;0.000162)	UPI000006D379	Error:Variant_position_missing_in_P14923_after_alignment					SNV	KRT19,missense_variant,p.Asp298Glu,ENST00000361566,NM_002276.4;KRT19,missense_variant,p.Asp122Glu,ENST00000593096,;KRT15,upstream_gene_variant,,ENST00000254043,NM_002275.3;KRT15,upstream_gene_variant,,ENST00000393974,;KRT15,upstream_gene_variant,,ENST00000393976,;KRT15,upstream_gene_variant,,ENST00000458290,;KRT19,downstream_gene_variant,,ENST00000455635,;KRT19,non_coding_transcript_exon_variant,,ENST00000468880,;KRT19,non_coding_transcript_exon_variant,,ENST00000471565,;KRT15,upstream_gene_variant,,ENST00000474031,;KRT15,upstream_gene_variant,,ENST00000497016,;KRT15,upstream_gene_variant,,ENST00000463447,;KRT15,upstream_gene_variant,,ENST00000470004,;KRT19,downstream_gene_variant,,ENST00000462611,;KRT19,downstream_gene_variant,,ENST00000479031,;	uc010wfs.1	c.1383C>A	955/1390	2	2			c.1383C>A						17	SNP	c.(1381-1383)GAC>GAA	24	24			ovary(2)|lung(2)|breast(1)	5	Broad	junction plakoglobin			39680449		0.577	ENSG00000171345	7836	g.chr17:39680449G>T	adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	Colon(16;42 520 6044 17852 28530)			Colon(16;42 520 6044 17852 28530)			76.713368	KEEP	11	19	0.366666667	19	29	11	19	0.366666667	77.698416	19	29	0.375	1	0	0	0	0	1	0	0	0	--	--		0	T			KRT15_uc002hxb.1_5'Flank|uc002hxc.1_5'Flank|KRT19_uc002hxd.3_Missense_Mutation_p.D298E	192	GBM-27-1833-TP	p.D461E	G	TGCGCCGCAGGTCAGTAACCT	NM_021991	NP_068831	39680449	P14923	PLAK_HUMAN	0	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	8	1391	-	T	T		Breast(137;0.000162)	Missense_Mutation	Error:Variant_position_missing_in_P14923_after_alignment						
KRT2	3849	broad.mit.edu	GRCh37	12	53039092	53039092	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs142557360		TCGA-06-0213-01	TCGA-06-0213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309680.3:c.1631G>A	p.Arg544Gln	p.R544Q	ENST00000309680	NM_000423.2	544	cGa/cAa	0	T:0.0005	T:0	1	T:0		T	R/Q	uc001sat.2	protein_coding	YES	CCDS8835.1			1631/1920									ovary(2)	2	c.(1630-1632)CGA>CAA			hmmpanther:PTHR23239:SF134,hmmpanther:PTHR23239,Low_complexity_(Seg):seg	keratin 2		T:0	T:0.0001	ENSP00000310861	T:0.001	9-Sep	0.000181	0.000288				0.00027		6.06E-05	rs142557360,COSM2150861	9-Sep	.		ENST00000309680	Transcript	1	T:0.0004	keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	ENSG00000172867	g.chr12:53039092C>T	6439			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=K22E_HUMAN&rb=491&re=639&var=R544Q	NA	getma.org/?cm=var&var=hg19,12,53039092,C,T&fts=all	R544Q	--	--	1																																			0,1	1		unknown(0)	p.R544Q	NM_000423	NP_000414	T:0.001	tolerated_low_confidence(0.3)	0,1	K22E_HUMAN	KRT2	HGNC	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)			9	1664	-			UPI0000367804	544			Tail.		SNV	KRT2,missense_variant,p.Arg544Gln,ENST00000309680,NM_000423.2;KRT2,downstream_gene_variant,,ENST00000547106,;	uc001sat.2	c.1631G>A	1653/2403	2	2			c.1631G>A						12	SNP	c.(1630-1632)CGA>CAA	43	43			ovary(2)	2	Broad	keratin 2			53039092		0.572	ENSG00000172867	8313	g.chr12:53039092C>T	keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton							132.187535	KEEP	47	49	-1	118	94	47	49	-1	136.524559	118	94	0.322581	1	0	0	0	0	1	0	0	0	--	--		0	T				49	GBM-06-0213-TP	p.R544Q	C	GCCAGACTGTCGGCCTCCAGA	NM_000423	NP_000414	53039092	P35908	K22E_HUMAN	0		BRCA - Breast invasive adenocarcinoma(357;0.19)	9	1664	-	T	T			Missense_Mutation	544			Tail.			
KRT20	0	broad.mit.edu	GRCh37	17	39041110	39041110	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01	TCGA-14-1395-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000167588.3:c.328G>A	p.Ala110Thr	p.A110T	ENST00000167588	NM_019010.2	110	Gcc/Acc	0			1			T	A/T	uc002hvl.2	protein_coding	YES	CCDS11379.1			328/1275									large_intestine(1)|kidney(1)|skin(1)	3	c.(328-330)GCC>ACC			Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF149	keratin 20				ENSP00000167588		8-Jan									COSM3402854	8-Jan	.		ENST00000167588	Transcript			apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton	ENSG00000171431	g.chr17:39041110C>T	20412			MODERATE		0.01	neutral	getma.org/?cm=msa&ty=f&p=K1C20_HUMAN&rb=69&re=380&var=A110T	NA	getma.org/?cm=var&var=hg19,17,39041110,C,T&fts=all	A110T	--	--	1																																			1	1		benign(0.082)	p.A110T	NM_019010	NP_061883		tolerated(0.97)	1	K1C20_HUMAN	KRT20	HGNC	P35900	K1C20_HUMAN					1	370	-		Breast(137;0.000301)|Ovarian(249;0.15)	UPI000012DAF1	110			Rod.|Linker 1.		SNV	KRT20,missense_variant,p.Ala110Thr,ENST00000167588,NM_019010.2;KRT20,non_coding_transcript_exon_variant,,ENST00000482529,;	uc002hvl.2	c.328G>A	370/1737	2	2			c.328G>A						17	SNP	c.(328-330)GCC>ACC	42	42			large_intestine(1)|kidney(1)|skin(1)	3	Broad	keratin 20			39041110		0.498	ENSG00000171431	8314	g.chr17:39041110C>T	apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton							86.795277	KEEP	17	15	-1	23	16	17	15	-1	86.826607	23	16	0.476923	1	0	0	0	0	1	0	0	0	--	--		0	T				144	GBM-14-1395-TP	p.A110T	C	GCCCTCGGGGCGTTGGTTTCG	NM_019010	NP_061883	39041110	P35900	K1C20_HUMAN	0			1	370	-	T	T		Breast(137;0.000301)|Ovarian(249;0.15)	Missense_Mutation	110			Rod.|Linker 1.			
KRT222	125113	broad.mit.edu	GRCh37	17	38812778	38812778	+	stop_gained	Nonsense_Mutation	SNP	A	A	C			TCGA-06-0649-01	TCGA-06-0649-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394052.3:c.764T>G	p.Leu255Ter	p.L255*	ENST00000394052	NM_152349.2	255	tTa/tGa	0			1			C	L/*	uc002hvc.2	protein_coding	YES	CCDS11371.1			764/888									central_nervous_system(1)|skin(1)	2	c.(763-765)TTA>TGA			hmmpanther:PTHR23239:SF44,hmmpanther:PTHR23239	truncated type I keratin KA21				ENSP00000377616		6-Jun									COSM2151474	6-Jun	.		ENST00000394052	Transcript				intermediate filament	structural molecule activity	ENSG00000213424	g.chr17:38812778A>C	28695			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,17,38812778,A,C&fts=all	L255*	--	--	1																																		KRT222_uc010wfk.1_RNA|KRT222_uc002hvb.2_Nonsense_Mutation_p.L215*	1	1			p.L255*	NM_152349	NP_689562			1	KT222_HUMAN	KRT222	HGNC	Q8N1A0	KT222_HUMAN					6	829	-			UPI0000072F8A	255					SNV	KRT222,stop_gained,p.Leu255Ter,ENST00000394052,NM_152349.2;KRT222,stop_gained,p.Leu255Ter,ENST00000476049,;KRT222,3_prime_UTR_variant,,ENST00000394049,;KRT222,downstream_gene_variant,,ENST00000581564,;KRT222,downstream_gene_variant,,ENST00000580719,;	uc002hvc.2	c.764T>G	806/1102	5	3			c.764T>G						17	SNP	c.(763-765)TTA>TGA	52	52			central_nervous_system(1)|skin(1)	2	Broad	truncated type I keratin KA21			38812778		0.378	ENSG00000213424	8315	g.chr17:38812778A>C		intermediate filament	structural molecule activity							27.561576	KEEP	11	9	-1	67	41	11	9	-1	43.110813	67	41	0.123894	1	0	0	0	0	0	1	0	0	--	--		0	C			KRT222_uc010wfk.1_RNA|KRT222_uc002hvb.2_Nonsense_Mutation_p.L215*	62	GBM-06-0649-TP	p.L255*	A	AGTGGCTGCTAAATGAAGATC	NM_152349	NP_689562	38812778	Q8N1A0	KT222_HUMAN	0			6	829	-	C	C			Nonsense_Mutation	255						
KRT222	125113		GRCh37	17	38812794	38812794	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0151-01	TCGA-06-0151-01																				ENST00000394052.3:c.748C>T	p.Arg250Ter	p.R250*	ENST00000394052	NM_152349.2	250	Cga/Tga	0																																																																																																																																																																																																																																												
KRT23	0	broad.mit.edu	GRCh37	17	39092707	39092707	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs148371500		TCGA-12-5299-01	TCGA-12-5299-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000209718.3:c.149G>A	p.Arg50Gln	p.R50Q	ENST00000209718	NM_015515.3	50	cGg/cAg	0	A:0		1			T	R/Q	uc002hvm.1	protein_coding	YES	CCDS11380.1			149/1269									ovary(1)	1	c.(148-150)CGG>CAG			hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF163	keratin 23			A:0.0003	ENSP00000209718		9-Feb	1.65E-05							0.000155	rs148371500,COSM332294	9-Feb	.		ENST00000209718	Transcript				intermediate filament	structural molecule activity	ENSG00000108244	g.chr17:39092707C>T	6438			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=K1C23_HUMAN&rb=1&re=70&var=R50Q	NA	getma.org/?cm=var&var=hg19,17,39092707,C,T&fts=all	R50Q	--	--	1																																		KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Missense_Mutation_p.R50Q|KRT23_uc002hvn.1_Missense_Mutation_p.R50Q	0,1	1		benign(0.093)	p.R50Q	NM_015515	NP_056330		tolerated(0.17)	0,1	K1C23_HUMAN	KRT23	HGNC	Q9C075	K1C23_HUMAN			K7EPI0_HUMAN,I3L3Q6_HUMAN		2	738	-		Breast(137;0.000301)|Ovarian(249;0.15)	UPI000013C66F	50			Head.		SNV	KRT23,missense_variant,p.Arg50Gln,ENST00000209718,NM_015515.3;KRT23,missense_variant,p.Arg50Gln,ENST00000485751,;KRT23,intron_variant,,ENST00000436344,NM_001282433.1;KRT23,upstream_gene_variant,,ENST00000584517,;AC004231.2,intron_variant,,ENST00000418393,;KRT23,downstream_gene_variant,,ENST00000582283,;KRT23,downstream_gene_variant,,ENST00000585006,;KRT23,non_coding_transcript_exon_variant,,ENST00000582754,;KRT23,intron_variant,,ENST00000462312,;KRT23,intron_variant,,ENST00000494691,;	uc002hvm.1	c.149G>A	574/1987	2	2			c.149G>A						17	SNP	c.(148-150)CGG>CAG	22	22			ovary(1)	1	Broad	keratin 23			39092707		0.692	ENSG00000108244	8316	g.chr17:39092707C>T		intermediate filament	structural molecule activity							258.278003	KEEP	43	47	-1	52	39	43	47	-1	258.27925	52	39	0.496933	1	0	0	0	0	1	0	0	0	--	--		0	T			KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Missense_Mutation_p.R50Q|KRT23_uc002hvn.1_Missense_Mutation_p.R50Q	130	GBM-12-5299-TP	p.R50Q	C	TGGGCAGCTCCGCGTGGTGAA	NM_015515	NP_056330	39092707	Q9C075	K1C23_HUMAN	0			2	738	-	T	T		Breast(137;0.000301)|Ovarian(249;0.15)	Missense_Mutation	50			Head.			
KRT23	0	broad.mit.edu	GRCh37	17	39087633	39087633	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000209718.3:c.471delC	p.Phe157LeufsTer26	p.F157Lfs*26	ENST00000209718	NM_015515.3	157	ttC/tt	0			1			-	F/X	uc002hvm.1	protein_coding	YES	CCDS11380.1			471/1269									ovary(1)	1	c.(469-471)TTCfs			Pfam_domain:PF00038,Prints_domain:PR01248,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF163	keratin 23				ENSP00000209718		9-Mar									COSM2155222	9-Mar	.		ENST00000209718	Transcript				intermediate filament	structural molecule activity	ENSG00000108244	g.chr17:39087633delG	6438			HIGH								--	--	1																																		KRT23_uc010wfl.1_Frame_Shift_Del_p.F20fs|KRT23_uc010cxf.1_5'UTR|KRT23_uc010cxg.2_Frame_Shift_Del_p.F157fs|KRT23_uc002hvn.1_Frame_Shift_Del_p.F157fs	1	1			p.F157fs	NM_015515	NP_056330			1	K1C23_HUMAN	KRT23	HGNC	Q9C075	K1C23_HUMAN			K7EPI0_HUMAN,I3L3Q6_HUMAN		3	1060	-		Breast(137;0.000301)|Ovarian(249;0.15)	UPI000013C66F	157			Rod.|Coil 1B.		deletion	KRT23,frameshift_variant,p.Phe157LeufsTer26,ENST00000209718,NM_015515.3;KRT23,frameshift_variant,p.Phe20LeufsTer26,ENST00000436344,NM_001282433.1;KRT23,frameshift_variant,p.Phe86LeufsTer26,ENST00000584517,;AC004231.2,intron_variant,,ENST00000418393,;KRT23,frameshift_variant,p.Phe20LeufsTer13,ENST00000462312,;KRT23,frameshift_variant,p.Phe20LeufsTer13,ENST00000494691,;KRT23,non_coding_transcript_exon_variant,,ENST00000582754,;	uc002hvm.1	c.471delC	896/1987	5	5			c.471delC						17	DEL	c.(469-471)TTCfs	16	16			ovary(1)	1	Broad	keratin 23			39087633		0.338	ENSG00000108244	8316	g.chr17:39087633delG		intermediate filament	structural molecule activity																				0.31	1	1	0	1	0	0	0	0	0	--	--		0	-			KRT23_uc010wfl.1_Frame_Shift_Del_p.F20fs|KRT23_uc010cxf.1_5'UTR|KRT23_uc010cxg.2_Frame_Shift_Del_p.F157fs|KRT23_uc002hvn.1_Frame_Shift_Del_p.F157fs	142	GBM-14-1034-TP	p.F157fs	G	ACTTGAGGTTGAAGTCATCCA	NM_015515	NP_056330	39087633	Q9C075	K1C23_HUMAN	0			3	1060	-	-	-		Breast(137;0.000301)|Ovarian(249;0.15)	Frame_Shift_Del	157			Rod.|Coil 1B.			
KRT24	192666	broad.mit.edu	GRCh37	17	38859722	38859722	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0211-01	TCGA-06-0211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264651.2:c.224del	p.Gly75ValfsTer81	p.G75Vfs*81	ENST00000264651	NM_019016.2	75	gGt/gt	0			1			-	G/X	uc002hvd.2	protein_coding	YES	CCDS11372.1			224/1578										0	c.(223-225)GGTfs			Low_complexity_(Seg):seg,hmmpanther:PTHR23239:SF101,hmmpanther:PTHR23239	keratin 24				ENSP00000264651		8-Jan									COSM2150763	8-Jan	.		ENST00000264651	Transcript				cytoplasm|intermediate filament	structural molecule activity	ENSG00000167916	g.chr17:38859722delC	18527			HIGH								--	--	1																																			1	1			p.G75fs	NM_019016	NP_061889			1	K1C24_HUMAN	KRT24	HGNC	Q2M2I5	K1C24_HUMAN					1	281	-		Breast(137;0.00526)	UPI000013D54D	75			Head.|Gly-rich.		deletion	KRT24,frameshift_variant,p.Gly75ValfsTer81,ENST00000264651,NM_019016.2;	uc002hvd.2	c.224delG	281/1881	5	5			c.224delG						17	DEL	c.(223-225)GGTfs	61	61				0	Broad	keratin 24			38859722		0.612	ENSG00000167916	8317	g.chr17:38859722delC		cytoplasm|intermediate filament	structural molecule activity	GBM(61;380 1051 14702 23642 31441)			GBM(61;380 1051 14702 23642 31441)																0.45	1	1	0	1	0	0	0	0	0	--	--		0	-				48	GBM-06-0211-TP	p.G75fs	C	CCCAAAACCACCCCCTACTGA	NM_019016	NP_061889	38859722	Q2M2I5	K1C24_HUMAN	0			1	281	-	-	-		Breast(137;0.00526)	Frame_Shift_Del	75			Head.|Gly-rich.			
KRT25	0	broad.mit.edu	GRCh37	17	38911514	38911514	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2623-01	TCGA-19-2623-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312150.4:c.10C>T	p.Arg4Ter	p.R4*	ENST00000312150	NM_181534.3	4	Cga/Tga	0		A:0.0008	1	A:0		A	R/*	uc002hve.2	protein_coding	YES	CCDS11373.1			10/1353									ovary(2)	2	c.(10-12)CGA>TGA			Low_complexity_(Seg):seg,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF160	keratin 25		A:0		ENSP00000310573	A:0	8-Jan	8.25E-06	0.000111							rs528755553,COSM2839412	8-Jan	.		ENST00000312150	Transcript		A:0.0002		cytoplasm|intermediate filament	structural molecule activity	ENSG00000204897	g.chr17:38911514G>A	30839			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,17,38911514,G,A&fts=all	R4*	--	--	1																																			0,1	1			p.R4*	NM_181534	NP_853512	A:0		0,1	K1C25_HUMAN	KRT25	HGNC	Q7Z3Z0	K1C25_HUMAN					1	71	-		Breast(137;0.00526)	UPI000019B3C3	4			Head.		SNV	KRT25,stop_gained,p.Arg4Ter,ENST00000312150,NM_181534.3;	uc002hve.2	c.10C>T	71/1670	5	2			c.10C>T						17	SNP	c.(10-12)CGA>TGA	24	24			ovary(2)	2	Broad	keratin 25			38911514		0.488	ENSG00000204897	8318	g.chr17:38911514G>A		cytoplasm|intermediate filament	structural molecule activity							-2.513291	KEEP	4	1	-1	18	28	4	1	-1	6.517819	18	28	0.065217	1	0	0	0	0	0	1	0	0	--	--		0	A				163	GBM-19-2623-TP	p.R4*	G	CTGGAAAGTCGAAGAGACATG	NM_181534	NP_853512	38911514	Q7Z3Z0	K1C25_HUMAN	0			1	71	-	A	A		Breast(137;0.00526)	Nonsense_Mutation	4			Head.			
KRT25	147183		GRCh37	17	38904633	38904633	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000312150.4:c.1249G>A	p.Ala417Thr	p.A417T	ENST00000312150	NM_181534.3	417	Gcc/Acc	0																																																																																																																																																																																																																																												
KRT25	147183		GRCh37	17	38910206	38910206	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000312150.4:c.575T>C	p.Val192Ala	p.V192A	ENST00000312150	NM_181534.3	192	gTt/gCt	0																																																																																																																																																																																																																																												
KRT27	342574	broad.mit.edu	GRCh37	17	38936090	38936090	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2559-01	TCGA-06-2559-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301656.3:c.708G>A	p.Ala236=	p.A236=	ENST00000301656	NM_181537.3	236	gcG/gcA	0			1			T	A	uc002hvg.2	protein_coding	YES	CCDS11375.1			708/1380										0	c.(706-708)GCG>GCA			hmmpanther:PTHR23239:SF120,hmmpanther:PTHR23239,Pfam_domain:PF00038	keratin 27				ENSP00000301656		8-Apr									COSM297124	8-Apr	.		ENST00000301656	Transcript				cytoplasm|intermediate filament	structural molecule activity	ENSG00000171446	g.chr17:38936090C>T	30841			LOW								--	--	1																																			1	1			p.A236A	NM_181537	NP_853515			1	K1C27_HUMAN	KRT27	HGNC	Q7Z3Y8	K1C27_HUMAN					4	749	-		Breast(137;0.000812)	UPI0000200C91	236			Rod.|Linker 12.		SNV	KRT27,synonymous_variant,p.=,ENST00000301656,NM_181537.3;KRT27,upstream_gene_variant,,ENST00000540723,;	uc002hvg.2	c.708G>A	749/1612	2	2			c.708G>A						17	SNP	c.(706-708)GCG>GCA	32	32				0	Broad	keratin 27			38936090		0.433	ENSG00000171446	8320	g.chr17:38936090C>T		cytoplasm|intermediate filament	structural molecule activity							69.810058	KEEP	11	16	-1	22	24	11	16	-1	70.817923	22	24	0.365079	1	0	0	0	0	0	0	1	0	--	--		0	T				83	GBM-06-2559-TP	p.A236A	C	TGCCTCCAGCCGCGCACTGAA	NM_181537	NP_853515	38936090	Q7Z3Y8	K1C27_HUMAN	0			4	749	-	T	T		Breast(137;0.000812)	Silent	236			Rod.|Linker 12.			
KRT27	342574	broad.mit.edu	GRCh37	17	38938701	38938701	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2565-01	TCGA-06-2565-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301656.3:c.45C>T	p.Cys15=	p.C15=	ENST00000301656	NM_181537.3	15	tgC/tgT	0			1			A	C	uc002hvg.2	protein_coding	YES	CCDS11375.1			45/1380										0	c.(43-45)TGC>TGT			hmmpanther:PTHR23239:SF120,hmmpanther:PTHR23239	keratin 27				ENSP00000301656		8-Jan	2.47E-05			0.000252		5.51E-05			rs781712325,COSM3402852	8-Jan	.		ENST00000301656	Transcript				cytoplasm|intermediate filament	structural molecule activity	ENSG00000171446	g.chr17:38938701G>A	30841			LOW								--	--	1																																			0,1	1			p.C15C	NM_181537	NP_853515			0,1	K1C27_HUMAN	KRT27	HGNC	Q7Z3Y8	K1C27_HUMAN					1	86	-		Breast(137;0.000812)	UPI0000200C91	15			Head.|Gly-rich.		SNV	KRT27,synonymous_variant,p.=,ENST00000301656,NM_181537.3;KRT27,upstream_gene_variant,,ENST00000540723,;	uc002hvg.2	c.45C>T	86/1612	2	2			c.45C>T						17	SNP	c.(43-45)TGC>TGT	30	30				0	Broad	keratin 27			38938701		0.582	ENSG00000171446	8320	g.chr17:38938701G>A		cytoplasm|intermediate filament	structural molecule activity							5.712725	KEEP	1	2	-1	8	11	1	2	-1	7.609882	8	11	0.166667	1	0	0	0	0	0	0	1	0	--	--		0	A				88	GBM-06-2565-TP	p.C15C	G	CAGTGCCCCCGCAAGAGCCAA	NM_181537	NP_853515	38938701	Q7Z3Y8	K1C27_HUMAN	0			1	86	-	A	A		Breast(137;0.000812)	Silent	15			Head.|Gly-rich.			
KRT28	162605		GRCh37	17	38953242	38953242	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000306658.7:c.904G>A	p.Ala302Thr	p.A302T	ENST00000306658	NM_181535.3	302	Gcc/Acc	0																																																																																																																																																																																																																																												
KRT31	0	broad.mit.edu	GRCh37	17	39551111	39551111	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-5133-01	TCGA-26-5133-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251645.2:c.1086C>T	p.Ser362=	p.S362=	ENST00000251645	NM_002277.2	362	agC/agT	0			1			A	S	uc002hwn.2	protein_coding	YES	CCDS11391.1			1086/1251										0	c.(1084-1086)AGC>AGT			Superfamily_domains:SSF64593,Pfam_domain:PF00038,Gene3D:1.20.5.170,hmmpanther:PTHR23239:SF99,hmmpanther:PTHR23239	keratin 31				ENSP00000251645		7-Jun	4.94E-05			0.000116		5.99E-05	0.0011		rs774179895,COSM3402876,COSM3402875	7-Jun	.		ENST00000251645	Transcript			epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	ENSG00000094796	g.chr17:39551111G>A	6448			LOW								--	--	1																																		KRT31_uc010cxn.2_Silent_p.S362S	0,1,1	1			p.S362S	NM_002277	NP_002268			0,1,1	K1H1_HUMAN	KRT31	HGNC	Q15323	K1H1_HUMAN			Q16275_HUMAN		6	1139	-		Breast(137;0.000496)	UPI000006F564	362			Coil 2.|Rod.		SNV	KRT31,synonymous_variant,p.=,ENST00000251645,NM_002277.2;	uc002hwn.2	c.1086C>T	1139/1596	2	2			c.1086C>T						17	SNP	c.(1084-1086)AGC>AGT	28	28				0	Broad	keratin 31			39551111		0.532	ENSG00000094796	8323	g.chr17:39551111G>A	epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton							-11.722895	KEEP	7	10	-1	107	141	7	10	-1	34.746586	107	141	0.069959	1	0	0	0	0	0	0	1	0	--	--		0	A			KRT31_uc010cxn.2_Silent_p.S362S	182	GBM-26-5133-TP	p.S362S	G	TGCAGTCCTCGCTCTCCAGCA	NM_002277	NP_002268	39551111	Q15323	K1H1_HUMAN	0			6	1139	-	A	A		Breast(137;0.000496)	Silent	362			Coil 2.|Rod.			
KRT31	0	broad.mit.edu	GRCh37	17	39550299	39550299	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-6450-01	TCGA-28-6450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251645.2:c.1220G>A	p.Arg407His	p.R407H	ENST00000251645	NM_002277.2	407	cGc/cAc	0			1			T	R/H	uc002hwn.2	protein_coding	YES	CCDS11391.1			1220/1251										0	c.(1219-1221)CGC>CAC			Low_complexity_(Seg):seg,hmmpanther:PTHR23239:SF99,hmmpanther:PTHR23239	keratin 31				ENSP00000251645		7-Jul	1.65E-05			0.000116				6.06E-05	rs749601131,COSM3402874,COSM3402873	7-Jul	.		ENST00000251645	Transcript			epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	ENSG00000094796	g.chr17:39550299C>T	6448			MODERATE		2.14	medium	getma.org/?cm=msa&ty=f&p=K1H1_HUMAN&rb=367&re=416&var=R407H	NA	getma.org/?cm=var&var=hg19,17,39550299,C,T&fts=all	R407H	--	--	1																																		KRT31_uc010cxn.2_3'UTR	0,1,1	1		possibly_damaging(0.662)	p.R407H	NM_002277	NP_002268		tolerated(0.59)	0,1,1	K1H1_HUMAN	KRT31	HGNC	Q15323	K1H1_HUMAN			Q16275_HUMAN		7	1273	-		Breast(137;0.000496)	UPI000006F564	407			Tail.		SNV	KRT31,missense_variant,p.Arg407His,ENST00000251645,NM_002277.2;	uc002hwn.2	c.1220G>A	1273/1596	1	1			c.1220G>A						17	SNP	c.(1219-1221)CGC>CAC	1	1				0	Broad	keratin 31			39550299		0.632	ENSG00000094796	8323	g.chr17:39550299C>T	epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton							25.698831	KEEP	6	7	-1	20	19	6	7	-1	28.928748	20	19	0.229167	1	0	0	0	0	1	0	0	0	--	--		0	T			KRT31_uc010cxn.2_3'UTR	227	GBM-28-6450-TP	p.R407H	C	GGGCCCACAGCGGGGGCGTGG	NM_002277	NP_002268	39550299	Q15323	K1H1_HUMAN	0			7	1273	-	T	T		Breast(137;0.000496)	Missense_Mutation	407			Tail.			
KRT32	0	broad.mit.edu	GRCh37	17	39619277	39619277	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000225899.3:c.1022C>T	p.Thr341Met	p.T341M	ENST00000225899	NM_002278.3	341	aCg/aTg	0	A:0		1			A	T/M	uc002hwr.2	protein_coding	YES	CCDS11393.1			1022/1347										0	c.(1021-1023)ACG>ATG			hmmpanther:PTHR23239:SF155,hmmpanther:PTHR23239,Pfam_domain:PF00038,Gene3D:1.20.5.170,Superfamily_domains:SSF64593	keratin 32			A:0.0001	ENSP00000225899		7-Jun	0.000222		0.000259			0.00015		0.000876	rs368676953,COSM1239289	7-Jun	common_variant		ENST00000225899	Transcript			epidermis development	intermediate filament	protein binding|structural molecule activity	ENSG00000108759	g.chr17:39619277G>A	6449			MODERATE		1.875	low	getma.org/?cm=msa&ty=f&p=K1H2_HUMAN&rb=95&re=406&var=T341M	getma.org/pdb.php?prot=K1H2_HUMAN&from=95&to=406&var=T341M	getma.org/?cm=var&var=hg19,17,39619277,G,A&fts=all	T341M	--	--	1																																			0,1	1		benign(0.039)	p.T341M	NM_002278	NP_002269		deleterious(0.02)	0,1	K1H2_HUMAN	KRT32	HGNC	Q14532	K1H2_HUMAN					6	1083	-		Breast(137;0.000812)	UPI000013C883	341			Coil 2.|Rod.		SNV	KRT32,missense_variant,p.Thr341Met,ENST00000225899,NM_002278.3;RNU2-32P,upstream_gene_variant,,ENST00000411193,;	uc002hwr.2	c.1022C>T	1126/1750	2	2			c.1022C>T						17	SNP	c.(1021-1023)ACG>ATG	22	22				0	Broad	keratin 32			39619277		0.572	ENSG00000108759	8324	g.chr17:39619277G>A	epidermis development	intermediate filament	protein binding|structural molecule activity							59.256478	KEEP	18	9	-1	24	15	18	9	-1	59.842229	24	15	0.388889	1	0	0	0	0	1	0	0	0	--	--		0	A				177	GBM-19-5959-TP	p.T341M	G	CTCACTCTCCGTCAGCGTGTT	NM_002278	NP_002269	39619277	Q14532	K1H2_HUMAN	0			6	1083	-	A	A		Breast(137;0.000812)	Missense_Mutation	341			Coil 2.|Rod.			
KRT33A	0	broad.mit.edu	GRCh37	17	39506774	39506774	+	synonymous_variant	Silent	SNP	C	C	T	rs61736449	byFrequency	TCGA-76-4931-01	TCGA-76-4931-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000007735.3:c.246G>A	p.Ala82=	p.A82=	ENST00000007735	NM_004138.3	82	gcG/gcA	0	T:0.0095	T:0.0068	1	T:0.0014		T	A	uc002hwk.1	protein_coding	YES	CCDS11388.1			246/1215										0	c.(244-246)GCG>GCA			Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF64593,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF98	keratin 33A		T:0	T:0	ENSP00000007735	T:0	7-Jan	0.000799	0.00865	0.000518			1.50E-05			rs61736449,COSM3402871	7-Jan	common_variant		ENST00000007735	Transcript		T:0.0020		intermediate filament	protein binding|structural molecule activity	ENSG00000006059	g.chr17:39506774C>T	6450			LOW								--	--	1																																			0,1	1			p.A82A	NM_004138	NP_004129	T:0		0,1	KT33A_HUMAN	KRT33A	HGNC	O76009	KT33A_HUMAN					1	283	-		Breast(137;0.000496)	UPI000013C503	82	A -> T (in Ref. 3; BAG36784).		Coil 1A.|Rod.		SNV	KRT33A,synonymous_variant,p.=,ENST00000007735,NM_004138.3;	uc002hwk.1	c.246G>A	291/1287	2	2			c.246G>A						17	SNP	c.(244-246)GCG>GCA	21	21				0	Broad	keratin 33A			39506774		0.602	ENSG00000006059	8325	g.chr17:39506774C>T		intermediate filament	protein binding|structural molecule activity							186.581049	KEEP	42	21	-1	49	45	42	21	-1	187.323125	49	45	0.422535	1	0	0	0	0	0	0	1	0	--	--		0	T				270	GBM-76-4931-TP	p.A82A	C	TCTCCAGCTCCGCGTTGTCCC	NM_004138	NP_004129	39506774	O76009	KT33A_HUMAN	0			1	283	-	T	T		Breast(137;0.000496)	Silent	82	A -> T (in Ref. 3; BAG36784).		Coil 1A.|Rod.			
KRT33B	3884	broad.mit.edu	GRCh37	17	39522870	39522870	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251646.3:c.440C>T	p.Thr147Met	p.T147M	ENST00000251646	NM_002279.4	147	aCg/aTg	0			1			A	T/M	uc002hwl.2	protein_coding	YES	CCDS11389.1			440/1215										0	c.(439-441)ACG>ATG			Prints_domain:PR01248,Pfam_domain:PF00038,hmmpanther:PTHR23239:SF99,hmmpanther:PTHR23239	type I hair keratin 3B				ENSP00000251646		7-Mar	2.47E-05			0.000231		1.50E-05			rs780775426,COSM2149945	7-Mar	.		ENST00000251646	Transcript				intermediate filament	protein binding|structural molecule activity	ENSG00000131738	g.chr17:39522870G>A	6451			MODERATE		2.085	medium	getma.org/?cm=msa&ty=f&p=KT33B_HUMAN&rb=55&re=366&var=T147M	getma.org/pdb.php?prot=KT33B_HUMAN&from=55&to=366&var=T147M	getma.org/?cm=var&var=hg19,17,39522870,G,A&fts=all	T147M	--	--	1																																			0,1	1		benign(0.097)	p.T147M	NM_002279	NP_002270		tolerated(0.23)	0,1	KT33B_HUMAN	KRT33B	HGNC	Q14525	KT33B_HUMAN					3	485	-		Breast(137;0.000496)	UPI000012DAFE	147			Rod.|Coil 1B.		SNV	KRT33B,missense_variant,p.Thr147Met,ENST00000251646,NM_002279.4;	uc002hwl.2	c.440C>T	490/1607	1	1			c.440C>T						17	SNP	c.(439-441)ACG>ATG	57	57				0	Broad	type I hair keratin 3B			39522870		0.517	ENSG00000131738	8326	g.chr17:39522870G>A		intermediate filament	protein binding|structural molecule activity							65.504058	KEEP	11	16	-1	35	41	11	16	-1	67.077605	35	41	0.338235	1	0	0	0	0	1	0	0	0	--	--		0	A				26	GBM-06-0154-TP	p.T147M	G	GGACTGCTCCGTCTGGTACCT	NM_002279	NP_002270	39522870	Q14525	KT33B_HUMAN	0			3	485	-	A	A		Breast(137;0.000496)	Missense_Mutation	147			Rod.|Coil 1B.			
KRT34	3885	broad.mit.edu	GRCh37	17	39535345	39535345	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0122-01	TCGA-06-0122-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394001.1:c.1086C>T	p.Asn362=	p.N362=	ENST00000394001	NM_021013.3	362	aaC/aaT	0			1			A	N	uc002hwm.2	protein_coding	YES	CCDS11390.1			1086/1311									central_nervous_system(1)	1	c.(1084-1086)AAC>AAT			Gene3D:1.20.5.170,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,Prints_domain:PR01248,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF165,Superfamily_domains:SSF64593	keratin 34				ENSP00000377570		7-Jun	2.47E-05		8.64E-05	0.000231					rs756379610,COSM2149202	7-Jun	.		ENST00000394001	Transcript			epidermis development	intermediate filament	protein binding|structural molecule activity	ENSG00000131737	g.chr17:39535345G>A	6452			LOW								--	--	1																																			0,1	1			p.N362N	NM_021013	NP_066293			0,1	KRT34_HUMAN	KRT34	HGNC	O76011	KRT34_HUMAN					6	1098	-		Breast(137;0.000496)	UPI000013CD0C	362			Rod.|Coil 2.		SNV	KRT34,synonymous_variant,p.=,ENST00000394001,NM_021013.3;	uc002hwm.2	c.1086C>T	1117/1751	2	2			c.1086C>T						17	SNP	c.(1084-1086)AAC>AAT	30	30			central_nervous_system(1)	1	Broad	keratin 34			39535345		0.617	ENSG00000131737	8327	g.chr17:39535345G>A	epidermis development	intermediate filament	protein binding|structural molecule activity							126.53317	KEEP	28	22	-1	52	41	28	22	-1	129.367932	52	41	0.343511	1	0	0	0	0	0	0	1	0	--	--		0	A				10	GBM-06-0122-TP	p.N362N	G	GAGACTCCACGTTGGTGATCA	NM_021013	NP_066293	39535345	O76011	KRT34_HUMAN	0			6	1098	-	A	A		Breast(137;0.000496)	Silent	362			Rod.|Coil 2.			
KRT34	3885	broad.mit.edu	GRCh37	17	39538605	39538605	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0128-01	TCGA-06-0128-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394001.1:c.20del	p.Pro7HisfsTer7	p.P7Hfs*7	ENST00000394001	NM_021013.3	7	cCa/ca	0			1			-	P/X	uc002hwm.2	protein_coding	YES	CCDS11390.1			20/1311									central_nervous_system(1)	1	c.(19-21)CCAfs				keratin 34				ENSP00000377570		7-Jan									COSM2149483	7-Jan	.		ENST00000394001	Transcript			epidermis development	intermediate filament	protein binding|structural molecule activity	ENSG00000131737	g.chr17:39538605delG	6452			HIGH								--	--	1																																			1	1			p.P7fs	NM_021013	NP_066293			1	KRT34_HUMAN	KRT34	HGNC	O76011	KRT34_HUMAN					1	32	-		Breast(137;0.000496)	UPI000013CD0C	7			Head.		deletion	KRT34,frameshift_variant,p.Pro7HisfsTer7,ENST00000394001,NM_021013.3;	uc002hwm.2	c.20delC	51/1751	5	5			c.20delC						17	DEL	c.(19-21)CCAfs	43	43			central_nervous_system(1)	1	Broad	keratin 34			39538605		0.458	ENSG00000131737	8327	g.chr17:39538605delG	epidermis development	intermediate filament	protein binding|structural molecule activity																				0.21	1	1	0	1	0	0	0	0	0	--	--		0	-				14	GBM-06-0128-TP	p.P7fs	G	AATTGTGGGTGGGGGCTTGGC	NM_021013	NP_066293	39538605	O76011	KRT34_HUMAN	0			1	32	-	-	-		Breast(137;0.000496)	Frame_Shift_Del	7			Head.			
KRT35	0	broad.mit.edu	GRCh37	17	39633981	39633981	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-28-5211-01	TCGA-28-5211-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393989.1:c.1009T>C	p.Leu337=	p.L337=	ENST00000393989	NM_002280.4	337	Ttg/Ctg	0			1			G	L	uc002hws.2	protein_coding	YES	CCDS11394.2			1009/1368									ovary(1)|skin(1)	2	c.(1009-1011)TTG>CTG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF109,Gene3D:1.20.5.170,Pfam_domain:PF00038,Superfamily_domains:SSF64593,Prints_domain:PR01248	keratin 35				ENSP00000377558		8-Jun									COSM3402884	8-Jun	.		ENST00000393989	Transcript			anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	ENSG00000197079	g.chr17:39633981A>G	6453			LOW								--	--	1																																			1	1			p.L337L	NM_002280	NP_002271			1	KRT35_HUMAN	KRT35	HGNC	Q92764	KRT35_HUMAN			C4AM86_HUMAN		6	1052	-		Breast(137;0.000286)	UPI0000D74C4B	337			Rod.|Coil 2.		SNV	KRT35,synonymous_variant,p.=,ENST00000246639,;KRT35,synonymous_variant,p.=,ENST00000393989,NM_002280.4;	uc002hws.2	c.1009T>C	1052/1670	3	3			c.1009T>C						17	SNP	c.(1009-1011)TTG>CTG	61	61			ovary(1)|skin(1)	2	Broad	keratin 35			39633981		0.577	ENSG00000197079	8328	g.chr17:39633981A>G	anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity							3.014277	KEEP	1	2	-1	14	20	1	2	-1	7.798258	14	20	0.1	1	0	0	0	0	0	0	1	0	--	--		0	G				219	GBM-28-5211-TP	p.L337L	A	GTGGATTCCAAAGCATCTCTC	NM_002280	NP_002271	39633981	Q92764	KRT35_HUMAN	0			6	1052	-	G	G		Breast(137;0.000286)	Silent	337			Rod.|Coil 2.			
KRT35	3886		GRCh37	17	39637207	39637207	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000393989.1:c.143G>T	p.Ser48Ile	p.S48I	ENST00000393989	NM_002280.4	48	aGt/aTt	0																																																																																																																																																																																																																																												
KRT36	0	broad.mit.edu	GRCh37	17	39644595	39644595	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01	TCGA-28-2502-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328119.6:c.599G>A	p.Arg200His	p.R200H	ENST00000328119	NM_003771.4	200	cGt/cAt	0	T:0.0002		1			T	R/H	uc002hwt.2	protein_coding	YES	CCDS11395.1			599/1404										0	c.(598-600)CGT>CAT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF144,hmmpanther:PTHR23239,Pfam_domain:PF00038,Prints_domain:PR01248	keratin 36			T:0	ENSP00000329165		7-Mar	0.000132	0.000192		0.0015				6.06E-05	rs376301027,COSM3402886	7-Mar	common_variant		ENST00000328119	Transcript				intermediate filament	protein binding|structural constituent of epidermis	ENSG00000126337	g.chr17:39644595C>T	6454			MODERATE		1.715	low	getma.org/?cm=msa&ty=f&p=KRT36_HUMAN&rb=92&re=403&var=R200H	getma.org/pdb.php?prot=KRT36_HUMAN&from=92&to=403&var=R200H	getma.org/?cm=var&var=hg19,17,39644595,C,T&fts=all	R200H	0.845	low	1																																			0,1	1		probably_damaging(0.966)	p.R200H	NM_003771	NP_003762		tolerated(0.12)	0,1	KRT36_HUMAN	KRT36	HGNC	O76013	KRT36_HUMAN					3	599	-		Breast(137;0.000286)	UPI000012DAFA	200			Rod.|Coil 1B.		SNV	KRT36,missense_variant,p.Arg150His,ENST00000393986,;KRT36,missense_variant,p.Arg200His,ENST00000328119,NM_003771.4;	uc002hwt.2	c.599G>A	599/1644	2	2			c.599G>A						17	SNP	c.(598-600)CGT>CAT	30	30				0	Broad	keratin 36			39644595		0.577	ENSG00000126337	8329	g.chr17:39644595C>T		intermediate filament	protein binding|structural constituent of epidermis							66.228272	KEEP	17	10	-1	37	39	17	10	-1	69.81554	37	39	0.288889	1	0	0	0	0	1	0	0	0	0.845	low		0	T				210	GBM-28-2502-TP	p.R200H	C	CAGGATCCTACGCAGGCCGTT	NM_003771	NP_003762	39644595	O76013	KRT36_HUMAN	0			3	599	-	T	T		Breast(137;0.000286)	Missense_Mutation	200			Rod.|Coil 1B.			
KRT37	8688	broad.mit.edu	GRCh37	17	39578641	39578641	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01	TCGA-06-0124-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000225550.3:c.778G>A	p.Glu260Lys	p.E260K	ENST00000225550	NM_003770.4	260	Gag/Aag	0			1			T	E/K	uc002hwp.1	protein_coding	YES	CCDS32653.1			778/1350									skin(1)	1	c.(778-780)GAG>AAG			Pfam_domain:PF00038,Prints_domain:PR01248,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF148	keratin 37				ENSP00000225550		7-Apr	8.24E-06					1.50E-05			rs767042441,COSM2149264	7-Apr	.		ENST00000225550	Transcript				intermediate filament	structural molecule activity	ENSG00000108417	g.chr17:39578641C>T	6455			MODERATE		2.465	medium	getma.org/?cm=msa&ty=f&p=KRT37_HUMAN&rb=103&re=414&var=E260K	NA	getma.org/?cm=var&var=hg19,17,39578641,C,T&fts=all	E260K	--	--	1																																		uc002hwo.1_Intron	0,1	1		benign(0.113)	p.E260K	NM_003770	NP_003761		deleterious(0.02)	0,1	KRT37_HUMAN	KRT37	HGNC	O76014	KRT37_HUMAN					4	825	-		Breast(137;0.000496)	UPI000000DC9A	260			Linker 12.|Rod.		SNV	KRT37,missense_variant,p.Glu260Lys,ENST00000225550,NM_003770.4;AC003958.2,intron_variant,,ENST00000432258,;	uc002hwp.1	c.778G>A	778/1475	2	2			c.778G>A						17	SNP	c.(778-780)GAG>AAG	33	33			skin(1)	1	Broad	keratin 37			39578641		0.552	ENSG00000108417	8330	g.chr17:39578641C>T		intermediate filament	structural molecule activity							175.685611	KEEP	40	43	-1	103	105	40	43	-1	187.506424	103	105	0.270916	1	0	0	0	0	1	0	0	0	--	--		0	T			uc002hwo.1_Intron	11	GBM-06-0124-TP	p.E260K	C	ATGTCCAGCTCGATCCGGAAC	NM_003770	NP_003761	39578641	O76014	KRT37_HUMAN	0			4	825	-	T	T		Breast(137;0.000496)	Missense_Mutation	260			Linker 12.|Rod.			
KRT37	0	broad.mit.edu	GRCh37	17	39580498	39580498	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01	TCGA-32-2495-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000225550.3:c.278G>A	p.Gly93Glu	p.G93E	ENST00000225550	NM_003770.4	93	gGg/gAg	0			1			T	G/E	uc002hwp.1	protein_coding	YES	CCDS32653.1			278/1350									skin(1)	1	c.(277-279)GGG>GAG			hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF148	keratin 37				ENSP00000225550		7-Jan									COSM3402879	7-Jan	.		ENST00000225550	Transcript				intermediate filament	structural molecule activity	ENSG00000108417	g.chr17:39580498C>T	6455			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=KRT37_HUMAN&rb=1&re=102&var=G93E	NA	getma.org/?cm=var&var=hg19,17,39580498,C,T&fts=all	G93E	--	--	1																																		uc002hwo.1_RNA	1	1		benign(0.109)	p.G93E	NM_003770	NP_003761		deleterious(0.04)	1	KRT37_HUMAN	KRT37	HGNC	O76014	KRT37_HUMAN					1	325	-		Breast(137;0.000496)	UPI000000DC9A	93			Head.		SNV	KRT37,missense_variant,p.Gly93Glu,ENST00000225550,NM_003770.4;AC003958.2,non_coding_transcript_exon_variant,,ENST00000432258,;	uc002hwp.1	c.278G>A	278/1475	1	1			c.278G>A						17	SNP	c.(277-279)GGG>GAG	4	4			skin(1)	1	Broad	keratin 37			39580498		0.602	ENSG00000108417	8330	g.chr17:39580498C>T		intermediate filament	structural molecule activity							124.682187	KEEP	14	28	-1	42	19	14	28	-1	125.478664	42	19	0.40404	1	0	0	0	0	1	0	0	0	--	--		0	T			uc002hwo.1_RNA	237	GBM-32-2495-TP	p.G93E	C	GCCGTAGGCCCCACAGATTCC	NM_003770	NP_003761	39580498	O76014	KRT37_HUMAN	0			1	325	-	T	T		Breast(137;0.000496)	Missense_Mutation	93			Head.			
KRT37	0	broad.mit.edu	GRCh37	17	39578590	39578590	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000225550.3:c.829C>T	p.Arg277Trp	p.R277W	ENST00000225550	NM_003770.4	277	Cgg/Tgg	0			1			A	R/W	uc002hwp.1	protein_coding	YES	CCDS32653.1			829/1350									skin(1)	1	c.(829-831)CGG>TGG			Pfam_domain:PF00038,Prints_domain:PR01248,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF148	keratin 37				ENSP00000225550		7-Apr									rs779245901,COSM3402878	7-Apr	.		ENST00000225550	Transcript				intermediate filament	structural molecule activity	ENSG00000108417	g.chr17:39578590G>A	6455			MODERATE		3.46	medium	getma.org/?cm=msa&ty=f&p=KRT37_HUMAN&rb=103&re=414&var=R277W	NA	getma.org/?cm=var&var=hg19,17,39578590,G,A&fts=all	R277W	--	--	1																																		uc002hwo.1_Intron	0,1	1		benign(0.344)	p.R277W	NM_003770	NP_003761		deleterious(0.03)	0,1	KRT37_HUMAN	KRT37	HGNC	O76014	KRT37_HUMAN					4	876	-		Breast(137;0.000496)	UPI000000DC9A	277			Coil 2.|Rod.		SNV	KRT37,missense_variant,p.Arg277Trp,ENST00000225550,NM_003770.4;AC003958.2,intron_variant,,ENST00000432258,;	uc002hwp.1	c.829C>T	829/1475	2	2			c.829C>T						17	SNP	c.(829-831)CGG>TGG	35	35			skin(1)	1	Broad	keratin 37			39578590		0.582	ENSG00000108417	8330	g.chr17:39578590G>A		intermediate filament	structural molecule activity							-94.219305	KEEP	4	3	-1	176	214	4	3	-1	7.086028	176	214	0.013333	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002hwo.1_Intron	249	GBM-32-5222-TP	p.R277W	G	TACTGAGCCCGCATCTCCCCC	NM_003770	NP_003761	39578590	O76014	KRT37_HUMAN	0			4	876	-	A	A		Breast(137;0.000496)	Missense_Mutation	277			Coil 2.|Rod.			
KRT37	0	broad.mit.edu	GRCh37	17	39577227	39577227	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-41-3915-01	TCGA-41-3915-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000225550.3:c.1253A>G	p.Asn418Ser	p.N418S	ENST00000225550	NM_003770.4	418	aAt/aGt	0			1			C	N/S	uc002hwp.1	protein_coding	YES	CCDS32653.1			1253/1350									skin(1)	1	c.(1252-1254)AAT>AGT			hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF148,Low_complexity_(Seg):seg	keratin 37				ENSP00000225550		7-Jul									COSM3402877	7-Jul	.		ENST00000225550	Transcript				intermediate filament	structural molecule activity	ENSG00000108417	g.chr17:39577227T>C	6455			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=KRT37_HUMAN&rb=415&re=449&var=N418S	NA	getma.org/?cm=var&var=hg19,17,39577227,T,C&fts=all	N418S	--	--	1																																		uc002hwo.1_Intron	1	1		possibly_damaging(0.636)	p.N418S	NM_003770	NP_003761		tolerated(0.05)	1	KRT37_HUMAN	KRT37	HGNC	O76014	KRT37_HUMAN					7	1300	-		Breast(137;0.000496)	UPI000000DC9A	418			Tail.		SNV	KRT37,missense_variant,p.Asn418Ser,ENST00000225550,NM_003770.4;AC003958.2,intron_variant,,ENST00000432258,;	uc002hwp.1	c.1253A>G	1253/1475	4	4			c.1253A>G						17	SNP	c.(1252-1254)AAT>AGT	44	44			skin(1)	1	Broad	keratin 37			39577227		0.547	ENSG00000108417	8330	g.chr17:39577227T>C		intermediate filament	structural molecule activity							143.658927	KEEP	24	22	-1	41	35	24	22	-1	145.523583	41	35	0.362832	1	0	0	0	0	1	0	0	0	--	--		0	C			uc002hwo.1_Intron	256	GBM-41-3915-TP	p.N418S	T	GGAACAGGGATTGCAGGGGAG	NM_003770	NP_003761	39577227	O76014	KRT37_HUMAN	0			7	1300	-	C	C		Breast(137;0.000496)	Missense_Mutation	418			Tail.			
KRT38	0	broad.mit.edu	GRCh37	17	39597030	39597030	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000246646.3:c.144C>T	p.Asn48=	p.N48=	ENST00000246646	NM_006771.3	48	aaC/aaT	0	A:0.0005		1			A	N	uc002hwq.1	protein_coding	YES	CCDS11392.1			144/1371									skin(2)	2	c.(142-144)AAC>AAT			hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF148	keratin 38			A:0.0002	ENSP00000246646		7-Jan	0.000115	0.000193		0.000116		0.000167			rs369697357,COSM3402883	7-Jan	.		ENST00000246646	Transcript				intermediate filament	structural molecule activity	ENSG00000171360	g.chr17:39597030G>A	6456			LOW								--	--	1																																			0,1	1			p.N48N	NM_006771	NP_006762			0,1	KRT38_HUMAN	KRT38	HGNC	O76015	KRT38_HUMAN					1	567	-		Breast(137;0.000496)	UPI000013CBF9	48			Head.		SNV	KRT38,synonymous_variant,p.=,ENST00000246646,NM_006771.3;	uc002hwq.1	c.144C>T	144/2337	2	2			c.144C>T						17	SNP	c.(142-144)AAC>AAT	44	44			skin(2)	2	Broad	keratin 38			39597030		0.632	ENSG00000171360	8331	g.chr17:39597030G>A		intermediate filament	structural molecule activity							106.655678	KEEP	20	18	-1	24	30	20	18	-1	107.277197	24	30	0.411111	1	0	0	0	0	0	0	1	0	--	--		0	A				240	GBM-32-2632-TP	p.N48N	G	CATGTGCCACGTTGGCCAAAA	NM_006771	NP_006762	39597030	O76015	KRT38_HUMAN	0			1	567	-	A	A		Breast(137;0.000496)	Silent	48			Head.			
KRT38	0	broad.mit.edu	GRCh37	17	39594785	39594785	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-4213-01	TCGA-32-4213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000246646.3:c.978G>A	p.Thr326=	p.T326=	ENST00000246646	NM_006771.3	326	acG/acA	0	T:0		1			T	T	uc002hwq.1	protein_coding	YES	CCDS11392.1			978/1371									skin(2)	2	c.(976-978)ACG>ACA			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF148	keratin 38			T:0.0002	ENSP00000246646		7-May	8.24E-05		8.64E-05	0.000578		6.00E-05			rs374000196,COSM3402882	7-May	common_variant		ENST00000246646	Transcript				intermediate filament	structural molecule activity	ENSG00000171360	g.chr17:39594785C>T	6456			LOW								--	--	1																																			0,1	1			p.T326T	NM_006771	NP_006762			0,1	KRT38_HUMAN	KRT38	HGNC	O76015	KRT38_HUMAN					5	1401	-		Breast(137;0.000496)	UPI000013CBF9	326			Coil 2.|Rod.		SNV	KRT38,synonymous_variant,p.=,ENST00000246646,NM_006771.3;	uc002hwq.1	c.978G>A	978/2337	1	1			c.978G>A						17	SNP	c.(976-978)ACG>ACA	11	11			skin(2)	2	Broad	keratin 38			39594785		0.597	ENSG00000171360	8331	g.chr17:39594785C>T		intermediate filament	structural molecule activity							99.018022	KEEP	24	23	-1	60	68	24	23	-1	106.894828	60	68	0.255172	1	0	0	0	0	0	0	1	0	--	--		0	T				247	GBM-32-4213-TP	p.T326T	C	GGGCATTCACCGTGCATCTCA	NM_006771	NP_006762	39594785	O76015	KRT38_HUMAN	0			5	1401	-	T	T		Breast(137;0.000496)	Silent	326			Coil 2.|Rod.			
KRT4	3851	broad.mit.edu	GRCh37	12	53208029	53208029	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	rs143824965	by1000genomes	TCGA-06-0648-01	TCGA-06-0648-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000551956.1:c.-187C>T		p.*63*	ENST00000551956		12		0	A:0.0026	A:0.0023	1	A:0		A	N	uc001saz.2	protein_coding					36/1785									ovary(4)|skin(2)	6	c.(34-36)AAC>AAT				keratin 4		A:0	A:0	ENSP00000293774	A:0	9-Jan	0.000223	0.00153	8.65E-05			0.000135		6.13E-05	rs143824965,COSM2151370	9-Jan	common_variant		ENST00000293774	Transcript	1	A:0.0006		keratin filament	structural molecule activity	ENSG00000170477	g.chr12:53208029G>A	6441			LOW								--	--	1																																			0,1				p.N12N	NM_002272	NP_002263	A:0		0,1	K2C4_HUMAN	KRT4	HGNC	B4DRS2	B4DRS2_HUMAN			Q9UEK9_HUMAN		1	307	-			UPI0000D9FD95	Error:Variant_position_missing_in_B4DRS2_after_alignment					SNV	KRT4,synonymous_variant,p.=,ENST00000293774,;KRT4,5_prime_UTR_variant,,ENST00000551956,;KRT4,upstream_gene_variant,,ENST00000458244,NM_002272.3;KRT4,upstream_gene_variant,,ENST00000548097,;KRT4,upstream_gene_variant,,ENST00000549295,;KRT4,upstream_gene_variant,,ENST00000552668,;KRT4,upstream_gene_variant,,ENST00000551436,;	uc001saz.2	c.36C>T	307/2576	1	1			c.36C>T						12	SNP	c.(34-36)AAC>AAT	63	63			ovary(4)|skin(2)	6	Broad	keratin 4			53208029		0.542	ENSG00000170477	8332	g.chr12:53208029G>A		keratin filament	structural molecule activity	Pancreas(190;284 2995 41444 45903)			Pancreas(190;284 2995 41444 45903)			137.88478	KEEP	20	37	-1	37	40	20	37	-1	138.42131	37	40	0.423077	1	0	0	0	0	0	0	1	0	--	--		0	A				61	GBM-06-0648-TP	p.N12N	G	TCCCGCACCCGTTGAGCATGT	NM_002272	NP_002263	53208029	B4DRS2	B4DRS2_HUMAN	0			1	307	-	A	A			Silent	Error:Variant_position_missing_in_B4DRS2_after_alignment						
KRT4	0	broad.mit.edu	GRCh37	12	53207484	53207484	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-12-1597-01	TCGA-12-1597-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000293774.4:c.581C>A	p.Thr194Asn	p.T194N	ENST00000293774		194	aCc/aAc	0	T:0		1			T	T/N	uc001saz.2	protein_coding					581/1785									ovary(4)|skin(2)	6	c.(580-582)ACC>AAC			hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF85	keratin 4			T:0.0002	ENSP00000293774		9-Jan	8.24E-05		8.64E-05			0.000135			rs201805600,COSM1932004	9-Jan	.		ENST00000293774	Transcript	1			keratin filament	structural molecule activity	ENSG00000170477	g.chr12:53207484G>T	6441			MODERATE		1.51	low	getma.org/?cm=msa&ty=f&p=K2C4_HUMAN&rb=1&re=149&var=T134N	NA	getma.org/?cm=var&var=hg19,12,53207484,G,T&fts=all	T134N	--	--	1																																			0,1			probably_damaging(0.966)	p.T194N	NM_002272	NP_002263			0,1	K2C4_HUMAN	KRT4	HGNC	B4DRS2	B4DRS2_HUMAN			Q9UEK9_HUMAN		1	852	-			UPI0000D9FD95	120					SNV	KRT4,missense_variant,p.Thr120Asn,ENST00000551956,;KRT4,missense_variant,p.Thr194Asn,ENST00000293774,;KRT4,missense_variant,p.Thr100Asn,ENST00000458244,NM_002272.3;KRT4,missense_variant,p.His80Gln,ENST00000552668,;KRT4,intron_variant,,ENST00000548097,;KRT4,upstream_gene_variant,,ENST00000549295,;KRT4,upstream_gene_variant,,ENST00000551436,;	uc001saz.2	c.581C>A	852/2576	2	2			c.581C>A						12	SNP	c.(580-582)ACC>AAC	26	26			ovary(4)|skin(2)	6	Broad	keratin 4			53207484		0.587	ENSG00000170477	8332	g.chr12:53207484G>T		keratin filament	structural molecule activity	Pancreas(190;284 2995 41444 45903)			Pancreas(190;284 2995 41444 45903)			22.664018	KEEP	11	6	0.647058824	63	75	11	6	0.647058824	44.79308	63	75	0.113333	1	0	0	0	0	1	0	0	0	--	--		0	T				124	GBM-12-1597-TP	p.T194N	G	GTGGAGGGGGGTGAGCAAGCT	NM_002272	NP_002263	53207484	B4DRS2	B4DRS2_HUMAN	0			1	852	-	T	T			Missense_Mutation	120						
KRT6B	0	broad.mit.edu	GRCh37	12	52841572	52841572	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs60627726		TCGA-12-5301-01	TCGA-12-5301-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252252.3:c.1414G>A	p.Glu472Lys	p.E472K	ENST00000252252	NM_005555.3	472	Gag/Aag	0			1			T	E/K	uc001sak.2	protein_coding	YES	CCDS8828.1			1414/1695						not_provided,pathogenic			ovary(2)	2	c.(1414-1416)GAG>AAG			Gene3D:1.20.5.170,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF141	keratin 6B				ENSP00000252252		9-Jul									rs60627726,HIFD_KRT6B:c.1414G>A,COSM3398826	9-Jul	.		ENST00000252252	Transcript	1		ectoderm development	keratin filament	structural constituent of cytoskeleton	ENSG00000185479	g.chr12:52841572C>T	6444			MODERATE		3.535	high	getma.org/?cm=msa&ty=f&p=K2C6B_HUMAN&rb=162&re=475&var=E472K	getma.org/pdb.php?prot=K2C6B_HUMAN&from=162&to=475&var=E472K	getma.org/?cm=var&var=hg19,12,52841572,C,T&fts=all	E472K	--	--	1																																			1,0,1	1		possibly_damaging(0.844)	p.E472K	NM_005555	NP_005546		deleterious(0.01)	0,0,1	K2C6B_HUMAN	KRT6B	HGNC	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)			7	1462	-			UPI000013CD50	472			Rod.|Coil 2.		SNV	KRT6B,missense_variant,p.Glu472Lys,ENST00000252252,NM_005555.3;	uc001sak.2	c.1414G>A	1462/2282	1	1			c.1414G>A						12	SNP	c.(1414-1416)GAG>AAG	4	4			ovary(2)	2	Broad	keratin 6B			52841572		0.597	ENSG00000185479	8335	g.chr12:52841572C>T	ectoderm development	keratin filament	structural constituent of cytoskeleton							189.857632	KEEP	42	40	-1	81	72	42	40	-1	193.031463	81	72	0.364103	1	0	0	0	0	1	0	0	0	--	--		0	T				131	GBM-12-5301-TP	p.E472K	C	CTGCACTCCTCGCCCTCCAGC	NM_005555	NP_005546	52841572	P04259	K2C6B_HUMAN	0		BRCA - Breast invasive adenocarcinoma(357;0.083)	7	1462	-	T	T			Missense_Mutation	472			Rod.|Coil 2.			
KRT6B	0	broad.mit.edu	GRCh37	12	52841112	52841112	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-76-6285-01	TCGA-76-6285-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252252.3:c.1557T>C	p.Ser519=	p.S519=	ENST00000252252	NM_005555.3	519	agT/agC	0			1			G	S	uc001sak.2	protein_coding	YES	CCDS8828.1			1557/1695									ovary(2)	2	c.(1555-1557)AGT>AGC			hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF141,Low_complexity_(Seg):seg	keratin 6B				ENSP00000252252		9-Sep									COSM3398825	9-Sep	.		ENST00000252252	Transcript	1		ectoderm development	keratin filament	structural constituent of cytoskeleton	ENSG00000185479	g.chr12:52841112A>G	6444			LOW								--	--	1																																			1	1			p.S519S	NM_005555	NP_005546			1	K2C6B_HUMAN	KRT6B	HGNC	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)			9	1605	-			UPI000013CD50	519			Tail.		SNV	KRT6B,synonymous_variant,p.=,ENST00000252252,NM_005555.3;	uc001sak.2	c.1557T>C	1605/2282	3	3			c.1557T>C						12	SNP	c.(1555-1557)AGT>AGC	7	7			ovary(2)	2	Broad	keratin 6B			52841112		0.622	ENSG00000185479	8335	g.chr12:52841112A>G	ectoderm development	keratin filament	structural constituent of cytoskeleton							71.894769	KEEP	7	19	-1	24	22	7	19	-1	72.707662	24	22	0.380952	1	0	0	0	0	0	0	1	0	--	--		0	G				280	GBM-76-6285-TP	p.S519S	A	CGCCAAGACCACTGCCATAGG	NM_005555	NP_005546	52841112	P04259	K2C6B_HUMAN	0		BRCA - Breast invasive adenocarcinoma(357;0.083)	9	1605	-	G	G			Silent	519			Tail.			
KRT7	3855	broad.mit.edu	GRCh37	12	52642505	52642505	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-0213-01	TCGA-06-0213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331817.5:c.1371C>A	p.Ile457=	p.I457=	ENST00000331817	NM_005556.3	457	atC/atA	0			1			A	I	uc001saa.1	protein_coding	YES	CCDS8822.1			1371/1410										0	c.(1369-1371)ATC>ATA			Low_complexity_(Seg):seg,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF133	keratin 7				ENSP00000329243		9-Sep									COSM2150826	9-Sep	.		ENST00000331817	Transcript			cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity	ENSG00000135480	g.chr12:52642505C>A	6445			LOW								--	--	1																																		KRT86_uc010snq.1_5'Flank	1	1			p.I457I	NM_005556	NP_005547			1	K2C7_HUMAN	KRT7	HGNC	P08729	K2C7_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.105)			9	1498	+			UPI000013CF9E	457			Tail.		SNV	KRT7,synonymous_variant,p.=,ENST00000331817,NM_005556.3;KRT86,upstream_gene_variant,,ENST00000544024,;KRT86,upstream_gene_variant,,ENST00000553310,;RP3-416H24.1,upstream_gene_variant,,ENST00000546686,;KRT7,non_coding_transcript_exon_variant,,ENST00000552322,;KRT7,non_coding_transcript_exon_variant,,ENST00000550153,;KRT7,intron_variant,,ENST00000548657,;KRT121P,downstream_gene_variant,,ENST00000529785,;KRT7,downstream_gene_variant,,ENST00000552183,;KRT7,downstream_gene_variant,,ENST00000549127,;KRT7,non_coding_transcript_exon_variant,,ENST00000549638,;KRT121P,downstream_gene_variant,,ENST00000257935,;KRT121P,downstream_gene_variant,,ENST00000534226,;	uc001saa.1	c.1371C>A	1554/1754	1	1			c.1371C>A						12	SNP	c.(1369-1371)ATC>ATA	50	50				0	Broad	keratin 7			52642505		0.647	ENSG00000135480	8337	g.chr12:52642505C>A	cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity							67.689201	KEEP	12	19	0.612903226	32	35	12	19	0.612903226	70.071662	32	35	0.321429	1	0	0	0	0	0	0	1	0	--	--		0	A			KRT86_uc010snq.1_5'Flank	49	GBM-06-0213-TP	p.I457I	C	CTTATTCCATCCGGACCGCAT	NM_005556	NP_005547	52642505	P08729	K2C7_HUMAN	0		BRCA - Breast invasive adenocarcinoma(357;0.105)	9	1498	+	A	A			Silent	457			Tail.			
KRT7	3855		GRCh37	12	52639222	52639222	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0151-01	TCGA-06-0151-01																				ENST00000331817.5:c.1011C>T	p.Ala337=	p.A337=	ENST00000331817	NM_005556.3	337	gcC/gcT	0																																																																																																																																																																																																																																												
KRT73	0	broad.mit.edu	GRCh37	12	53011874	53011874	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4934-01	TCGA-76-4934-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305748.3:c.435C>T	p.Ser145=	p.S145=	ENST00000305748	NM_175068.2	145	tcC/tcT	0			1			A	S	uc001sas.2	protein_coding	YES	CCDS8834.1			435/1623									large_intestine(2)|ovary(2)|skin(2)	6	c.(433-435)TCC>TCT			Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF122,Superfamily_domains:SSF64593	keratin 73				ENSP00000307014		9-Jan									COSM3398828	9-Jan	.		ENST00000305748	Transcript				keratin filament	structural molecule activity	ENSG00000186049	g.chr12:53011874G>A	28928			LOW								--	--	1																																			1	1			p.S145S	NM_175068	NP_778238			1	K2C73_HUMAN	KRT73	HGNC	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)			1	470	-			UPI000000DCB8	145			Coil 1A.|Rod.		SNV	KRT73,synonymous_variant,p.=,ENST00000305748,NM_175068.2;KRT73,upstream_gene_variant,,ENST00000552855,;RP11-641A6.2,downstream_gene_variant,,ENST00000552364,;RP11-641A6.2,downstream_gene_variant,,ENST00000549180,;RP11-641A6.2,downstream_gene_variant,,ENST00000551089,;KRT73,non_coding_transcript_exon_variant,,ENST00000546934,;	uc001sas.2	c.435C>T	470/2284	2	2			c.435C>T						12	SNP	c.(433-435)TCC>TCT	48	48			large_intestine(2)|ovary(2)|skin(2)	6	Broad	keratin 73			53011874		0.547	ENSG00000186049	8340	g.chr12:53011874G>A		keratin filament	structural molecule activity							284.819026	KEEP	48	49	-1	94	61	48	49	-1	287.136698	94	61	0.39207	1	0	0	0	0	0	0	1	0	--	--		0	A				272	GBM-76-4934-TP	p.S145S	G	TGTCAATGAAGGAGGCGAACT	NM_175068	NP_778238	53011874	Q86Y46	K2C73_HUMAN	0		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	470	-	A	A			Silent	145			Coil 1A.|Rod.			
KRT74	121391	broad.mit.edu	GRCh37	12	52964563	52964563	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305620.2:c.898G>A	p.Asp300Asn	p.D300N	ENST00000305620	NM_175053.3	300	Gac/Aac	0			1			T	D/N	uc001sap.1	protein_coding	YES	CCDS8832.1			898/1590									ovary(1)|skin(1)	2	c.(898-900)GAC>AAC			Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF94	keratin 6 irs4				ENSP00000307240		9-May									COSM2149339	9-May	.		ENST00000305620	Transcript	1			keratin filament	structural molecule activity	ENSG00000170484	g.chr12:52964563C>T	28929			MODERATE		3.91	high	getma.org/?cm=msa&ty=f&p=K2C74_HUMAN&rb=139&re=452&var=D300N	NA	getma.org/?cm=var&var=hg19,12,52964563,C,T&fts=all	D300N	--	--	1																																			1	1		probably_damaging(0.99)	p.D300N	NM_175053	NP_778223		deleterious(0)	1	K2C74_HUMAN	KRT74	HGNC	Q7RTS7	K2C74_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.191)			5	946	-			UPI00001AEDF9	300			Rod.|Linker 12.		SNV	KRT74,missense_variant,p.Asp300Asn,ENST00000549343,;KRT74,missense_variant,p.Asp300Asn,ENST00000305620,NM_175053.3;KRT74,upstream_gene_variant,,ENST00000546384,;	uc001sap.1	c.898G>A	946/2788	2	2			c.898G>A						12	SNP	c.(898-900)GAC>AAC	48	48			ovary(1)|skin(1)	2	Broad	keratin 6 irs4			52964563		0.572	ENSG00000170484	8341	g.chr12:52964563C>T		keratin filament	structural molecule activity							67.367405	KEEP	10	15	-1	24	36	10	15	-1	69.801428	24	36	0.311688	1	0	0	0	0	1	0	0	0	--	--		0	T				12	GBM-06-0125-TP	p.D300N	C	CGGTTGTTGTCCATGGACAGG	NM_175053	NP_778223	52964563	Q7RTS7	K2C74_HUMAN	0		BRCA - Breast invasive adenocarcinoma(357;0.191)	5	946	-	T	T			Missense_Mutation	300			Rod.|Linker 12.			
KRT75	0	broad.mit.edu	GRCh37	12	52824357	52824357	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs2232397	byFrequency	TCGA-74-6573-01	TCGA-74-6573-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252245.5:c.1003C>T	p.Arg335Trp	p.R335W	ENST00000252245	NM_004693.2	335	Cgg/Tgg	0	A:0.0023	A:0.0038	1	A:0		A	R/W	uc001saj.2	protein_coding	YES	CCDS8827.1			1003/1656										0	c.(1003-1005)CGG>TGG			Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF111	keratin 75		A:0	A:0.0001	ENSP00000252245	A:0	9-May	0.000305	0.00336				3.00E-05			rs2232397,COSM3398823	9-May	common_variant		ENST00000252245	Transcript	1	A:0.0010		keratin filament	structural molecule activity	ENSG00000170454	g.chr12:52824357G>A	24431			MODERATE		2.775	medium	getma.org/?cm=msa&ty=f&p=K2C75_HUMAN&rb=148&re=461&var=R335W	getma.org/pdb.php?prot=K2C75_HUMAN&from=148&to=461&var=R335W	getma.org/?cm=var&var=hg19,12,52824357,G,A&fts=all	R335W	--	--	1																																			0,1	1		probably_damaging(0.999)	p.R335W	NM_004693	NP_004684	A:0	deleterious(0)	0,1	K2C75_HUMAN	KRT75	HGNC	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)			5	1025	-			UPI000013CD4E	335			Coil 2.|Rod.		SNV	KRT75,missense_variant,p.Arg335Trp,ENST00000252245,NM_004693.2;RP11-1020M18.10,downstream_gene_variant,,ENST00000548135,;	uc001saj.2	c.1003C>T	1224/2324	2	2			c.1003C>T						12	SNP	c.(1003-1005)CGG>TGG	47	47				0	Broad	keratin 75			52824357		0.547	ENSG00000170454	8342	g.chr12:52824357G>A		keratin filament	structural molecule activity							73.445434	KEEP	20	19	-1	66	88	20	19	-1	87.90031	66	88	0.19883	1	0	0	0	0	1	0	0	0	--	--		0	A				260	GBM-74-6573-TP	p.R335W	G	GCCTCGGCCCGGCTGCGGTTG	NM_004693	NP_004684	52824357	O95678	K2C75_HUMAN	0		BRCA - Breast invasive adenocarcinoma(357;0.192)	5	1025	-	A	A			Missense_Mutation	335			Coil 2.|Rod.			
KRT76	51350	broad.mit.edu	GRCh37	12	53164870	53164870	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs143394911	byFrequency	TCGA-06-2557-01	TCGA-06-2557-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332411.2:c.1397G>A	p.Arg466His	p.R466H	ENST00000332411	NM_015848.4	466	cGt/cAt	0	T:0.0007	T:0	1	T:0		T	R/H	uc001sax.2	protein_coding	YES	CCDS8838.1			1397/1917									breast(1)|skin(1)	2	c.(1396-1398)CGT>CAT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF88,Gene3D:1.20.5.170,Pfam_domain:PF00038,Superfamily_domains:SSF64593	keratin 76		T:0	T:0	ENSP00000330101	T:0	9-Jul	0.000544	0.000865	8.64E-05	0.000116		3.00E-05	0.0011	0.00315	rs143394911,COSM3398830	9-Jul	common_variant		ENST00000332411	Transcript		T:0.0010	cytoskeleton organization	keratin filament	structural molecule activity	ENSG00000185069	g.chr12:53164870C>T	24430			MODERATE		1.4	low	getma.org/?cm=msa&ty=f&p=K22O_HUMAN&rb=182&re=495&var=R466H	getma.org/pdb.php?prot=K22O_HUMAN&from=182&to=495&var=R466H	getma.org/?cm=var&var=hg19,12,53164870,C,T&fts=all	R466H	--	--	1																																			0,1	1		benign(0.315)	p.R466H	NM_015848	NP_056932	T:0.0051	deleterious(0.03)	0,1	K22O_HUMAN	KRT76	HGNC	Q01546	K22O_HUMAN					7	1451	-			UPI000019B3C1	466			Rod.|Coil 2.		SNV	KRT76,missense_variant,p.Arg466His,ENST00000332411,NM_015848.4;	uc001sax.2	c.1397G>A	1451/2529	1	1			c.1397G>A						12	SNP	c.(1396-1398)CGT>CAT	3	3			breast(1)|skin(1)	2	Broad	keratin 76			53164870		0.602	ENSG00000185069	8343	g.chr12:53164870C>T	cytoskeleton organization	keratin filament	structural molecule activity							73.535514	KEEP	17	12	-1	23	21	17	12	-1	73.955421	23	21	0.412698	1	0	0	0	0	1	0	0	0	--	--		0	T				81	GBM-06-2557-TP	p.R466H	C	CTGGTAGTCACGCAGGAGCCG	NM_015848	NP_056932	53164870	Q01546	K22O_HUMAN	0			7	1451	-	T	T			Missense_Mutation	466			Rod.|Coil 2.			
KRT78	0	broad.mit.edu	GRCh37	12	53242331	53242331	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T			TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304620.4:c.384G>A	p.Lys128=	p.K128=	ENST00000304620	NM_173352.2	128	aaG/aaA	0			1			T	K	uc001sbc.1	protein_coding	YES	CCDS8840.1			384/1563									ovary(2)	2	c.(382-384)AAG>AAA			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF127,Superfamily_domains:SSF64593	keratin 5b				ENSP00000306261		9-Jan									COSM3398834	9-Jan	.		ENST00000304620	Transcript				keratin filament	protein binding|structural molecule activity	ENSG00000170423	g.chr12:53242331C>T	28926			LOW								--	--	1																																			1	1			p.K128K	NM_173352	NP_775487			1	K2C78_HUMAN	KRT78	HGNC	Q8N1N4	K2C78_HUMAN			F8VS93_HUMAN,B4DQ49_HUMAN		1	448	-			UPI00001AEDBE	128			Coil 1A.|Rod.		SNV	KRT78,splice_region_variant,p.=,ENST00000304620,NM_173352.2;KRT78,splice_region_variant,,ENST00000547110,;KRT78,upstream_gene_variant,,ENST00000359499,;KRT78,upstream_gene_variant,,ENST00000551581,;	uc001sbc.1	c.384G>A	448/1778	2	2			c.384G>A						12	SNP	c.(382-384)AAG>AAA	44	44			ovary(2)	2	Broad	keratin 5b			53242331		0.537	ENSG00000170423	8345	g.chr12:53242331C>T		keratin filament	protein binding|structural molecule activity							13.379959	KEEP	4	5	-1	21	31	4	5	-1	20.249229	21	31	0.142857	1	0	0	0	0	0	0	1	0	--	--		0	T				229	GBM-32-1977-TP	p.K128K	C	TGACCCTCACCTTGTCAATGA	NM_173352	NP_775487	53242331	Q8N1N4	K2C78_HUMAN	0			1	448	-	T	T			Silent	128			Coil 1A.|Rod.			
KRT79	338785	broad.mit.edu	GRCh37	12	53217720	53217720	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01	TCGA-06-0195-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330553.5:c.1097C>T	p.Thr366Ile	p.T366I	ENST00000330553	NM_175834.2	366	aCc/aTc	0			1			A	T/I	uc001sbb.2	protein_coding	YES	CCDS8839.1			1097/1608									ovary(2)|skin(2)	4	c.(1096-1098)ACC>ATC			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF138	keratin 6L				ENSP00000328358		9-Jun									COSM3398833	9-Jun	.		ENST00000330553	Transcript				keratin filament	structural molecule activity	ENSG00000185640	g.chr12:53217720G>A	28930			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=K2C79_HUMAN&rb=141&re=456&var=T366I	getma.org/pdb.php?prot=K2C79_HUMAN&from=141&to=456&var=T366I	getma.org/?cm=var&var=hg19,12,53217720,G,A&fts=all	T366I	--	--	1																																		KRT79_uc001sba.2_Missense_Mutation_p.T137I	1	1		probably_damaging(1)	p.T366I	NM_175834	NP_787028		deleterious(0.01)	1	K2C79_HUMAN	KRT79	HGNC	Q5XKE5	K2C79_HUMAN					6	1130	-			UPI0000198204	366			Rod.|Coil 2.		SNV	KRT79,missense_variant,p.Thr366Ile,ENST00000330553,NM_175834.2;KRT79,upstream_gene_variant,,ENST00000549255,;KRT79,non_coding_transcript_exon_variant,,ENST00000546453,;	uc001sbb.2	c.1097C>T	1132/2068	2	2			c.1097C>T						12	SNP	c.(1096-1098)ACC>ATC	48	48			ovary(2)|skin(2)	4	Broad	keratin 6L			53217720		0.612	ENSG00000185640	8346	g.chr12:53217720G>A		keratin filament	structural molecule activity							65.045661	KEEP	6	20	-1	15	13	6	20	-1	65.050566	15	13	0.488889	1	0	0	0	0	1	0	0	0	--	--		0	A			KRT79_uc001sba.2_Missense_Mutation_p.T137I	45	GBM-06-0195-TP	p.T366I	G	GATAGTGCGGGTGAGCTCAGC	NM_175834	NP_787028	53217720	Q5XKE5	K2C79_HUMAN	0			6	1130	-	A	A			Missense_Mutation	366			Rod.|Coil 2.			
KRT79	0	broad.mit.edu	GRCh37	12	53217702	53217702	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-26-6174-01	TCGA-26-6174-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330553.5:c.1115T>C	p.Leu372Pro	p.L372P	ENST00000330553	NM_175834.2	372	cTg/cCg	0			1			G	L/P	uc001sbb.2	protein_coding	YES	CCDS8839.1			1115/1608									ovary(2)|skin(2)	4	c.(1114-1116)CTG>CCG			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF138	keratin 6L				ENSP00000328358		9-Jun									COSM3398832	9-Jun	.		ENST00000330553	Transcript				keratin filament	structural molecule activity	ENSG00000185640	g.chr12:53217702A>G	28930			MODERATE		3.45	medium	getma.org/?cm=msa&ty=f&p=K2C79_HUMAN&rb=141&re=456&var=L372P	getma.org/pdb.php?prot=K2C79_HUMAN&from=141&to=456&var=L372P	getma.org/?cm=var&var=hg19,12,53217702,A,G&fts=all	L372P	--	--	1																																		KRT79_uc001sba.2_Missense_Mutation_p.L143P	1	1		probably_damaging(1)	p.L372P	NM_175834	NP_787028		deleterious(0)	1	K2C79_HUMAN	KRT79	HGNC	Q5XKE5	K2C79_HUMAN					6	1148	-			UPI0000198204	372			Rod.|Coil 2.		SNV	KRT79,missense_variant,p.Leu372Pro,ENST00000330553,NM_175834.2;KRT79,upstream_gene_variant,,ENST00000549255,;KRT79,non_coding_transcript_exon_variant,,ENST00000546453,;	uc001sbb.2	c.1115T>C	1150/2068	3	3			c.1115T>C						12	SNP	c.(1114-1116)CTG>CCG	53	53			ovary(2)|skin(2)	4	Broad	keratin 6L			53217702		0.617	ENSG00000185640	8346	g.chr12:53217702A>G		keratin filament	structural molecule activity							41.731055	KEEP	4	10	-1	18	20	4	10	-1	43.303113	18	20	0.304348	1	0	0	0	0	1	0	0	0	--	--		0	G			KRT79_uc001sba.2_Missense_Mutation_p.L143P	188	GBM-26-6174-TP	p.L372P	A	CTCCCCCTGCAGCCTCTGGAT	NM_175834	NP_787028	53217702	Q5XKE5	K2C79_HUMAN	0			6	1148	-	G	G			Missense_Mutation	372			Rod.|Coil 2.			
KRT8	0	broad.mit.edu	GRCh37	12	53292563	53292563	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000293308.6:c.1102G>A	p.Ala368Thr	p.A368T	ENST00000293308	NM_002273.3	368	Gcg/Acg	0			1			T	A/T	uc001sbd.2	protein_coding		CCDS8841.1			1102/1452									ovary(1)|skin(1)	2	c.(1102-1104)GCG>ACG			Gene3D:1.20.5.170,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF104,Superfamily_domains:SSF64593	keratin 8	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)			ENSP00000293308		8-Jun	2.47E-05				0.000303	1.51E-05			rs746043558,COSM3398835	8-Jun	.		ENST00000293308	Transcript	1		cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity	ENSG00000170421	g.chr12:53292563C>T	6446			MODERATE		2.55	medium	getma.org/?cm=msa&ty=f&p=K2C8_HUMAN&rb=90&re=401&var=A368T	getma.org/pdb.php?prot=K2C8_HUMAN&from=90&to=401&var=A368T	getma.org/?cm=var&var=hg19,12,53292563,C,T&fts=all	A368T	--	--	1																																		KRT8_uc009zmj.2_Intron|KRT8_uc009zmk.1_Missense_Mutation_p.A396T|KRT8_uc009zml.1_Missense_Mutation_p.A368T|KRT8_uc009zmm.1_Missense_Mutation_p.A368T	0,1			benign(0.2)	p.A368T	NM_002273	NP_002264			0,1	K2C8_HUMAN	KRT8	HGNC	P05787	K2C8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	Q969I0_HUMAN,Q7L4M3_HUMAN,F8VUG2_HUMAN,F8VRG4_HUMAN,F8VP67_HUMAN		6	1205	-			UPI0000161B3E	368			Necessary for interaction with PNN.|Rod.|Coil 2.		SNV	KRT8,missense_variant,p.Ala368Thr,ENST00000552551,;KRT8,missense_variant,p.Ala368Thr,ENST00000293308,NM_002273.3;KRT8,missense_variant,p.Ala368Thr,ENST00000546897,NM_001256293.1;KRT8,missense_variant,p.Ala396Thr,ENST00000552150,NM_001256282.1;KRT8,downstream_gene_variant,,ENST00000546826,;KRT8,downstream_gene_variant,,ENST00000548998,;KRT8,downstream_gene_variant,,ENST00000547413,;KRT8,downstream_gene_variant,,ENST00000546900,;KRT8,downstream_gene_variant,,ENST00000547176,;KRT8,non_coding_transcript_exon_variant,,ENST00000546583,;KRT8,non_coding_transcript_exon_variant,,ENST00000550170,;KRT8,non_coding_transcript_exon_variant,,ENST00000547031,;KRT8,downstream_gene_variant,,ENST00000549176,;	uc001sbd.2	c.1102G>A	1193/1777	2	2			c.1102G>A						12	SNP	c.(1102-1104)GCG>ACG	29	29			ovary(1)|skin(1)	2	Broad	keratin 8		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	53292563		0.637	ENSG00000170421	8347	g.chr12:53292563C>T	cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity							212.802481	KEEP	41	52	-1	105	107	41	52	-1	217.286632	105	107	0.348416	1	0	0	0	0	1	0	0	0	--	--		0	T			KRT8_uc009zmj.2_Intron|KRT8_uc009zmk.1_Missense_Mutation_p.A396T|KRT8_uc009zml.1_Missense_Mutation_p.A368T|KRT8_uc009zmm.1_Missense_Mutation_p.A368T	249	GBM-32-5222-TP	p.A368T	C	AGCTGCCGCGCCATGTCCTGC	NM_002273	NP_002264	53292563	P05787	K2C8_HUMAN	0		BRCA - Breast invasive adenocarcinoma(357;0.108)	6	1205	-	T	T			Missense_Mutation	368			Necessary for interaction with PNN.|Rod.|Coil 2.			
KRT80	0	broad.mit.edu	GRCh37	12	52565281	52565281	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-4157-01	TCGA-14-4157-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394815.2:c.1260G>A	p.Lys420=	p.K420=	ENST00000394815	NM_182507.2	420	aaG/aaA	0			1			T	K	uc001rzx.2	protein_coding	YES	CCDS8821.2			1260/1359										0	c.(1258-1260)AAG>AAA			hmmpanther:PTHR23239:SF150,hmmpanther:PTHR23239	keratin 80 isoform a				ENSP00000378292		9-Sep	9.06E-05							0.000696	rs773092935,COSM3398818,COSM3398819	9-Sep	common_variant		ENST00000394815	Transcript				keratin filament	structural molecule activity	ENSG00000167767	g.chr12:52565281C>T	27056			LOW								--	--	1																																		KRT80_uc001rzw.2_Silent_p.K455K|KRT80_uc001rzy.2_3'UTR	0,1,1	1			p.K420K	NM_182507	NP_872313			0,1,1	K2C80_HUMAN	KRT80	HGNC	Q6KB66	K2C80_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)			9	1358	-			UPI0000160118	420			Tail.		SNV	KRT80,synonymous_variant,p.=,ENST00000394815,NM_182507.2;KRT80,3_prime_UTR_variant,,ENST00000313234,NM_001081492.1;KRT80,non_coding_transcript_exon_variant,,ENST00000466011,;	uc001rzx.2	c.1260G>A	1358/3859	2	2			c.1260G>A						12	SNP	c.(1258-1260)AAG>AAA	30	30				0	Broad	keratin 80 isoform a			52565281		0.542	ENSG00000167767	8348	g.chr12:52565281C>T		keratin filament	structural molecule activity	GBM(178;2309 2916 15678 35873)			GBM(178;2309 2916 15678 35873)			193.647928	KEEP	30	38	-1	27	41	30	38	-1	193.676784	27	41	0.483333	1	0	0	0	0	0	0	1	0	--	--		0	T			KRT80_uc001rzw.2_Silent_p.K455K|KRT80_uc001rzy.2_3'UTR	152	GBM-14-4157-TP	p.K420K	C	GGGAGGGGGCCTTGGAGAGGC	NM_182507	NP_872313	52565281	Q6KB66	K2C80_HUMAN	0		BRCA - Breast invasive adenocarcinoma(357;0.108)	9	1358	-	T	T			Silent	420			Tail.			
KRT81	0	broad.mit.edu	GRCh37	12	52685111	52685112	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-12-0616-01	TCGA-12-0616-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327741.5:c.138dupC	p.Ser47GlnfsTer110	p.S47Qfs*110	ENST00000327741	NM_002281.3	46	-/C	0	G:0.058		1			G	-/X	uc001sab.2	protein_coding	YES	CCDS31805.1			138-139/1518										0	c.(136-141)GGCAGCfs			hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF143	keratin, hair, basic, 1			G:0.0664	ENSP00000369349		9-Jan									TMP_ESP_12_52685112_52685111	9-Jan	.		ENST00000327741	Transcript	1			keratin filament	protein binding|structural molecule activity	ENSG00000205426	g.chr12:52685111_52685112insG	6458			HIGH								--	--	1																																		KRT86_uc010snq.1_Intron|KRT86_uc009zmg.2_Intron|KRT81_uc001sac.2_Intron		1			p.G46fs	NM_002281	NP_002272				KRT81_HUMAN	KRT81	HGNC	Q14533	KRT81_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	Q8NFV1_HUMAN,Q8N120_HUMAN		1	188_189	-			UPI0000DBEEF8	46_47			Head.		insertion	KRT81,frameshift_variant,p.Ser47GlnfsTer110,ENST00000327741,NM_002281.3;KRT86,intron_variant,,ENST00000544024,;KRT86,intron_variant,,ENST00000423955,;KRT86,intron_variant,,ENST00000553310,;	uc001sab.2	c.138_139insC	207-208/1929	5	5			c.138_139insC						12	INS	c.(136-141)GGCAGCfs	30	30				0	Broad	keratin, hair, basic, 1			52685112		0.748	ENSG00000205426	8349	g.chr12:52685111_52685112insG		keratin filament	protein binding|structural molecule activity																				0.03	1	0	0	1	1	0	0	0	0	--	--		0	G			KRT86_uc010snq.1_Intron|KRT86_uc009zmg.2_Intron|KRT81_uc001sac.2_Intron	118	GBM-12-0616-TP	p.G46fs	-	ACGCTGTGGCTGCCGAAGCCCC	NM_002281	NP_002272	52685111	Q14533	KRT81_HUMAN	0		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	188_189	-	G	G			Frame_Shift_Ins	46_47			Head.			
KRT84	3890	broad.mit.edu	GRCh37	12	52779219	52779219	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-2557-01	TCGA-06-2557-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257951.3:c.151G>T	p.Gly51Cys	p.G51C	ENST00000257951	NM_033045.3	51	Ggt/Tgt	0			1			A	G/C	uc001sah.1	protein_coding	YES	CCDS8825.1			151/1803									skin(1)	1	c.(151-153)GGT>TGT			hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF129,Low_complexity_(Seg):seg	keratin, hair, basic, 4				ENSP00000257951		9-Jan	8.24E-06					1.50E-05			rs776666279,COSM2152535	9-Jan	.		ENST00000257951	Transcript				keratin filament	structural constituent of epidermis	ENSG00000161849	g.chr12:52779219C>A	6461			MODERATE		3.365	medium	getma.org/?cm=msa&ty=f&p=KRT84_HUMAN&rb=1&re=163&var=G51C	NA	getma.org/?cm=var&var=hg19,12,52779219,C,A&fts=all	G51C	--	--	1																																			0,1	1		probably_damaging(0.999)	p.G51C	NM_033045	NP_149034		deleterious(0.02)	0,1	KRT84_HUMAN	KRT84	HGNC	Q9NSB2	KRT84_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)			1	199	-	all_hematologic(5;0.12)		UPI000013CFA1	51			Head.		SNV	KRT84,missense_variant,p.Gly51Cys,ENST00000257951,NM_033045.3;RP3-416H24.4,intron_variant,,ENST00000547174,;	uc001sah.1	c.151G>T	218/2092	2	2			c.151G>T						12	SNP	c.(151-153)GGT>TGT	24	24			skin(1)	1	Broad	keratin, hair, basic, 4			52779219		0.582	ENSG00000161849	8352	g.chr12:52779219C>A		keratin filament	structural constituent of epidermis							91.159987	KEEP	13	23	0.638888889	43	37	13	23	0.638888889	94.234701	43	37	0.317308	1	0	0	0	0	1	0	0	0	--	--		0	A				81	GBM-06-2557-TP	p.G51C	C	CTCCGACTACCAAAGCTGCCA	NM_033045	NP_149034	52779219	Q9NSB2	KRT84_HUMAN	0		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	199	-	A	A	all_hematologic(5;0.12)		Missense_Mutation	51			Head.			
KRT84	0	broad.mit.edu	GRCh37	12	52771859	52771859	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257951.3:c.1762C>T	p.Arg588Cys	p.R588C	ENST00000257951	NM_033045.3	588	Cgc/Tgc	0			1			A	R/C	uc001sah.1	protein_coding	YES	CCDS8825.1			1762/1803									skin(1)	1	c.(1762-1764)CGC>TGC			hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF129,Low_complexity_(Seg):seg	keratin, hair, basic, 4				ENSP00000257951		9-Sep	1.67E-05					2.75E-05			rs758498357,COSM3398821	9-Sep	.		ENST00000257951	Transcript				keratin filament	structural constituent of epidermis	ENSG00000161849	g.chr12:52771859G>A	6461			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=KRT84_HUMAN&rb=476&re=600&var=R588C	NA	getma.org/?cm=var&var=hg19,12,52771859,G,A&fts=all	R588C	--	--	1																																			0,1	1		unknown(0)	p.R588C	NM_033045	NP_149034		deleterious_low_confidence(0)	0,1	KRT84_HUMAN	KRT84	HGNC	Q9NSB2	KRT84_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)			9	1810	-	all_hematologic(5;0.12)		UPI000013CFA1	588			Tail.		SNV	KRT84,missense_variant,p.Arg588Cys,ENST00000257951,NM_033045.3;RP3-416H24.4,upstream_gene_variant,,ENST00000547174,;	uc001sah.1	c.1762C>T	1829/2092	1	1			c.1762C>T						12	SNP	c.(1762-1764)CGC>TGC	58	58			skin(1)	1	Broad	keratin, hair, basic, 4			52771859		0.677	ENSG00000161849	8352	g.chr12:52771859G>A		keratin filament	structural constituent of epidermis							6.948127	KEEP	0	4	-1	5	7	0	4	-1	7.095667	5	7	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	A				160	GBM-19-1790-TP	p.R588C	G	GACACAAAGCGGACGCTGGAG	NM_033045	NP_149034	52771859	Q9NSB2	KRT84_HUMAN	0		BRCA - Breast invasive adenocarcinoma(357;0.189)	9	1810	-	A	A	all_hematologic(5;0.12)		Missense_Mutation	588			Tail.			
KRT86	3892		GRCh37	12	52699175	52699175	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000293525.5:c.887G>A	p.Trp296Ter	p.W296*	ENST00000293525	NM_002284.3	296	tGg/tAg	0																																																																																																																																																																																																																																												
KRT9	3857	broad.mit.edu	GRCh37	17	39724810	39724810	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs116216460	byFrequency;by1000genomes	TCGA-06-5408-01	TCGA-06-5408-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000246662.4:c.1120C>T	p.Arg374Trp	p.R374W	ENST00000246662	NM_000226.3	374	Cgg/Tgg	0	A:0.0005		1			A	R/W	uc002hxe.3	protein_coding	YES	CCDS32654.1			1120/1872									ovary(1)|central_nervous_system(1)|pancreas(1)	3	c.(1120-1122)CGG>TGG			hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF96,Pfam_domain:PF00038	keratin 9			A:0.002	ENSP00000246662		8-May	0.00115	0.000384	0.000605	0.00116		0.00174		0.000182	rs116216460,COSM3402889	8-May	common_variant		ENST00000246662	Transcript	1		intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	ENSG00000171403	g.chr17:39724810G>A	6447			MODERATE		3.33	medium	getma.org/?cm=msa&ty=f&p=K1C9_HUMAN&rb=152&re=464&var=R374W	getma.org/pdb.php?prot=K1C9_HUMAN&from=152&to=464&var=R374W	getma.org/?cm=var&var=hg19,17,39724810,G,A&fts=all	R374W	--	--	1																																		JUP_uc010wfs.1_Intron	0,1	1		benign(0.287)	p.R374W	NM_000226	NP_000217		deleterious(0.04)	0,1	K1C9_HUMAN	KRT9	HGNC	P35527	K1C9_HUMAN			K7EQQ3_HUMAN		5	1186	-		Breast(137;0.000307)	UPI00001AE6F7	374			Rod.|Coil 2.		SNV	KRT9,missense_variant,p.Arg374Trp,ENST00000246662,NM_000226.3;KRT9,missense_variant,p.Arg141Trp,ENST00000588431,;	uc002hxe.3	c.1120C>T	1186/2287	1	1			c.1120C>T						17	SNP	c.(1120-1122)CGG>TGG	63	63			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Broad	keratin 9			39724810		0.547	ENSG00000171403	8355	g.chr17:39724810G>A	intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton							632.088127	KEEP	102	123	-1	147	150	102	123	-1	634.117607	147	150	0.429487	1	0	0	0	0	1	0	0	0	--	--		0	A			JUP_uc010wfs.1_Intron	92	GBM-06-5408-TP	p.R374W	G	ACACCGTGCCGGAGCTGGGTC	NM_000226	NP_000217	39724810	P35527	K1C9_HUMAN	0			5	1186	-	A	A		Breast(137;0.000307)	Missense_Mutation	374			Rod.|Coil 2.			
KRT9	0	broad.mit.edu	GRCh37	17	39724628	39724628	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-5132-01	TCGA-26-5132-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000246662.4:c.1180C>T	p.Leu394=	p.L394=	ENST00000246662	NM_000226.3	394	Ctg/Ttg	0			1			A	L	uc002hxe.3	protein_coding	YES	CCDS32654.1			1180/1872									ovary(1)|central_nervous_system(1)|pancreas(1)	3	c.(1180-1182)CTG>TTG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF96,Gene3D:1.20.5.170,Pfam_domain:PF00038,Superfamily_domains:SSF64593,Prints_domain:PR01248	keratin 9				ENSP00000246662		8-Jun									COSM2156923	8-Jun	.		ENST00000246662	Transcript	1		intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	ENSG00000171403	g.chr17:39724628G>A	6447			LOW								--	--	1																																		JUP_uc010wfs.1_Intron	1	1			p.L394L	NM_000226	NP_000217			1	K1C9_HUMAN	KRT9	HGNC	P35527	K1C9_HUMAN			K7EQQ3_HUMAN		6	1246	-		Breast(137;0.000307)	UPI00001AE6F7	394			Rod.|Coil 2.		SNV	KRT9,synonymous_variant,p.=,ENST00000246662,NM_000226.3;KRT9,synonymous_variant,p.=,ENST00000588431,;	uc002hxe.3	c.1180C>T	1246/2287	2	2			c.1180C>T						17	SNP	c.(1180-1182)CTG>TTG	25	25			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Broad	keratin 9			39724628		0.532	ENSG00000171403	8355	g.chr17:39724628G>A	intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton							338.665562	KEEP	52	58	-1	73	73	52	58	-1	339.512884	73	73	0.437247	1	0	0	0	0	0	0	1	0	--	--		0	A			JUP_uc010wfs.1_Intron	181	GBM-26-5132-TP	p.L394L	G	CTCTTCTCCAGAGCTGCTTTC	NM_000226	NP_000217	39724628	P35527	K1C9_HUMAN	0			6	1246	-	A	A		Breast(137;0.000307)	Silent	394			Rod.|Coil 2.			
KRT9	0	broad.mit.edu	GRCh37	17	39725742	39725742	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000246662.4:c.980G>A	p.Arg327His	p.R327H	ENST00000246662	NM_000226.3	327	cGt/cAt	0			1			T	R/H	uc002hxe.3	protein_coding	YES	CCDS32654.1			980/1872									ovary(1)|central_nervous_system(1)|pancreas(1)	3	c.(979-981)CGT>CAT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF96,Pfam_domain:PF00038,Prints_domain:PR01248	keratin 9				ENSP00000246662		8-Apr	4.94E-05		8.65E-05			4.50E-05		0.000121	rs761374587,COSM979238	8-Apr	.		ENST00000246662	Transcript	1		intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	ENSG00000171403	g.chr17:39725742C>T	6447			MODERATE		3.575	high	getma.org/?cm=msa&ty=f&p=K1C9_HUMAN&rb=152&re=464&var=R327H	getma.org/pdb.php?prot=K1C9_HUMAN&from=152&to=464&var=R327H	getma.org/?cm=var&var=hg19,17,39725742,C,T&fts=all	R327H	--	--	1																																		JUP_uc010wfs.1_Intron	0,1	1		probably_damaging(1)	p.R327H	NM_000226	NP_000217		deleterious(0)	0,1	K1C9_HUMAN	KRT9	HGNC	P35527	K1C9_HUMAN			K7EQQ3_HUMAN		4	1046	-		Breast(137;0.000307)	UPI00001AE6F7	327			Rod.|Coil 2.		SNV	KRT9,missense_variant,p.Arg327His,ENST00000246662,NM_000226.3;KRT9,missense_variant,p.Arg94His,ENST00000588431,;	uc002hxe.3	c.980G>A	1046/2287	2	2			c.980G>A						17	SNP	c.(979-981)CGT>CAT	41	41			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Broad	keratin 9			39725742		0.448	ENSG00000171403	8355	g.chr17:39725742C>T	intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton							124.557687	KEEP	26	22	-1	32	53	26	22	-1	127.087832	32	53	0.349206	1	0	0	0	0	1	0	0	0	--	--		0	T			JUP_uc010wfs.1_Intron	246	GBM-32-4211-TP	p.R327H	C	ATACTCCTGACGCATGTCATT	NM_000226	NP_000217	39725742	P35527	K1C9_HUMAN	0			4	1046	-	T	T		Breast(137;0.000307)	Missense_Mutation	327			Rod.|Coil 2.			
KRTAP10-10	353333	broad.mit.edu	GRCh37	21	46057875	46057875	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs147625145	byFrequency	TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380095.1:c.541G>A	p.Ala181Thr	p.A181T	ENST00000380095	NM_181688.1	181	Gcc/Acc	0	A:0		1			A	A/T	uc002zfq.2	protein_coding	YES	CCDS33585.1			541/756										0	c.(541-543)GCC>ACC			Pfam_domain:PF13885,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF40,Low_complexity_(Seg):seg	keratin associated protein 10-10			A:0.0007	ENSP00000369438		1-Jan	0.000305	9.62E-05	0.000346		0.000454	0.00039	0.0011	0.000121	rs147625145,COSM2149568	1-Jan	common_variant		ENST00000380095	Transcript				keratin filament		ENSG00000221859	g.chr21:46057875G>A	22972			MODERATE		-1.87	neutral	getma.org/?cm=msa&ty=f&p=KR10A_HUMAN&rb=156&re=197&var=A181T	NA	getma.org/?cm=var&var=hg19,21,46057875,G,A&fts=all	A181T	--	--	1																																		C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	0,1	1		benign(0.091)	p.A181T	NM_181688	NP_859016		tolerated(0.75)	0,1	KR10A_HUMAN	KRTAP10-10	HGNC	P60014	KR10A_HUMAN					1	603	+			UPI00001A95B8	181			15 X 5 AA repeats of C-C-X(3).|12.		SNV	KRTAP10-10,missense_variant,p.Ala181Thr,ENST00000380095,NM_181688.1;TSPEAR,intron_variant,,ENST00000323084,NM_001272037.1,NM_144991.2;	uc002zfq.2	c.541G>A	603/1098	2	2			c.541G>A						21	SNP	c.(541-543)GCC>ACC	22	22				0	Broad	keratin associated protein 10-10			46057875		0.642	ENSG00000221859	8357	g.chr21:46057875G>A		keratin filament								281.41834	KEEP	62	78	-1	94	72	62	78	-1	281.631596	94	72	0.46696	1	0	0	0	0	1	0	0	0	--	--		0	A			C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	18	GBM-06-0137-TP	p.A181T	G	TTGCTGCACCGCCTCCTGCTG	NM_181688	NP_859016	46057875	P60014	KR10A_HUMAN	0			1	603	+	A	A			Missense_Mutation	181			15 X 5 AA repeats of C-C-X(3).|12.			
KRTAP10-10	0	broad.mit.edu	GRCh37	21	46057496	46057496	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380095.1:c.162G>A	p.Gln54=	p.Q54=	ENST00000380095	NM_181688.1	54	caG/caA	0			1			A	Q	uc002zfq.2	protein_coding	YES	CCDS33585.1			162/756										0	c.(160-162)CAG>CAA			hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF40	keratin associated protein 10-10				ENSP00000369438		1-Jan									COSM2155234	1-Jan	.		ENST00000380095	Transcript				keratin filament		ENSG00000221859	g.chr21:46057496G>A	22972			LOW								--	--	1																																		C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	1	1			p.Q54Q	NM_181688	NP_859016			1	KR10A_HUMAN	KRTAP10-10	HGNC	P60014	KR10A_HUMAN					1	224	+			UPI00001A95B8	54			3.|15 X 5 AA repeats of C-C-X(3).		SNV	KRTAP10-10,synonymous_variant,p.=,ENST00000380095,NM_181688.1;TSPEAR,intron_variant,,ENST00000323084,NM_001272037.1,NM_144991.2;	uc002zfq.2	c.162G>A	224/1098	1	1			c.162G>A						21	SNP	c.(160-162)CAG>CAA	64	64				0	Broad	keratin associated protein 10-10			46057496		0.657	ENSG00000221859	8357	g.chr21:46057496G>A		keratin filament								178.940862	KEEP	27	37	-1	24	27	27	37	-1	179.078587	24	27	0.54	1	0	0	0	0	0	0	1	0	--	--		0	A			C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	142	GBM-14-1034-TP	p.Q54Q	G	CCTGCTGCCAGACGGCCTGTG	NM_181688	NP_859016	46057496	P60014	KR10A_HUMAN	0			1	224	+	A	A			Silent	54			3.|15 X 5 AA repeats of C-C-X(3).			
KRTAP10-11	386678	broad.mit.edu	GRCh37	21	46066409	46066409	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334670.8:c.34G>A	p.Ala12Thr	p.A12T	ENST00000334670	NM_198692.2	12	Gct/Act	0	T:0	A:0.0008	1	A:0		A	A/T	uc002zfr.3	protein_coding	YES	CCDS42962.1			34/897									ovary(1)	1	c.(34-36)GCT>ACT			hmmpanther:PTHR23262:SF19,hmmpanther:PTHR23262	keratin associated protein 10-11		A:0	T:0.0002	ENSP00000334197	A:0	1-Jan	1.65E-05			0.000116		1.50E-05			rs190235053,COSM2151766	1-Jan	.		ENST00000334670	Transcript		A:0.0002		keratin filament		ENSG00000243489	g.chr21:46066409G>A	20528			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=KR10B_HUMAN&rb=1&re=71&var=A12T	NA	getma.org/?cm=var&var=hg19,21,46066409,G,A&fts=all	A12T	--	--	1																																		C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	0,1	1		unknown(0)	p.A12T	NM_198692	NP_941965	A:0	tolerated(0.35)	0,1	KR10B_HUMAN	KRTAP10-11	HGNC	P60412	KR10B_HUMAN					1	79	+			UPI000040FC94	12					SNV	KRTAP10-11,missense_variant,p.Ala12Thr,ENST00000334670,NM_198692.2;TSPEAR,intron_variant,,ENST00000323084,NM_001272037.1,NM_144991.2;	uc002zfr.3	c.34G>A	79/1234	2	2			c.34G>A						21	SNP	c.(34-36)GCT>ACT	22	22			ovary(1)	1	Broad	keratin associated protein 10-11			46066409		0.582	ENSG00000243489	8358	g.chr21:46066409G>A		keratin filament								141.625267	KEEP	22	35	-1	26	42	22	35	-1	141.645079	26	42	0.484536	1	0	0	0	0	1	0	0	0	--	--		0	A			C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	68	GBM-06-0747-TP	p.A12T	G	CTGCTCCAGCGCTTACTCCGA	NM_198692	NP_941965	46066409	P60412	KR10B_HUMAN	0			1	79	+	A	A			Missense_Mutation	12						
KRTAP10-11	386678	broad.mit.edu	GRCh37	21	46066382	46066382	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs150246805	by1000genomes	TCGA-06-5415-01	TCGA-06-5415-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334670.8:c.7G>A	p.Ala3Thr	p.A3T	ENST00000334670	NM_198692.2	3	Gcg/Acg	0	A:0.0039	A:0.0068	1	A:0		A	A/T	uc002zfr.3	protein_coding	YES	CCDS42962.1			7/897									ovary(1)	1	c.(7-9)GCG>ACG			hmmpanther:PTHR23262:SF19,hmmpanther:PTHR23262	keratin associated protein 10-11		A:0	A:0.0001	ENSP00000334197	A:0	1-Jan	0.000634	0.00596	0.00026	0.000696	0.000151	6.12E-05		0.000237	rs150246805,COSM2153216	1-Jan	common_variant		ENST00000334670	Transcript		A:0.0018		keratin filament		ENSG00000243489	g.chr21:46066382G>A	20528			MODERATE		2.275	medium	getma.org/?cm=msa&ty=f&p=KR10B_HUMAN&rb=1&re=71&var=A3T	NA	getma.org/?cm=var&var=hg19,21,46066382,G,A&fts=all	A3T	--	--	1																																		C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	0,1	1		unknown(0)	p.A3T	NM_198692	NP_941965	A:0	tolerated(0.1)	0,1	KR10B_HUMAN	KRTAP10-11	HGNC	P60412	KR10B_HUMAN					1	52	+			UPI000040FC94	3					SNV	KRTAP10-11,missense_variant,p.Ala3Thr,ENST00000334670,NM_198692.2;TSPEAR,intron_variant,,ENST00000323084,NM_001272037.1,NM_144991.2;	uc002zfr.3	c.7G>A	52/1234	1	1			c.7G>A						21	SNP	c.(7-9)GCG>ACG	55	55			ovary(1)	1	Broad	keratin associated protein 10-11			46066382		0.542	ENSG00000243489	8358	g.chr21:46066382G>A		keratin filament								105.848048	KEEP	22	26	-1	38	47	22	26	-1	106.835979	38	47	0.391753	1	0	0	0	0	1	0	0	0	--	--		0	A			C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	98	GBM-06-5415-TP	p.A3T	G	CAGCATGGCCGCGTCCACCAT	NM_198692	NP_941965	46066382	P60412	KR10B_HUMAN	0			1	52	+	A	A			Missense_Mutation	3						
KRTAP10-12	386685	broad.mit.edu	GRCh37	21	46117748	46117748	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0157-01	TCGA-06-0157-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400365.3:c.632T>C	p.Val211Ala	p.V211A	ENST00000400365	NM_198699.1	211	gTc/gCc	0			1			C	V/A	uc002zfw.1	protein_coding	YES	CCDS42967.1			632/738										0	c.(631-633)GTC>GCC			Pfam_domain:PF13885,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF8,Low_complexity_(Seg):seg	keratin associated protein 10-12				ENSP00000383216		1-Jan									COSM3748161	1-Jan	.		ENST00000400365	Transcript				keratin filament		ENSG00000189169	g.chr21:46117748T>C	20533			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=KR10C_HUMAN&rb=210&re=245&var=V211A	NA	getma.org/?cm=var&var=hg19,21,46117748,T,C&fts=all	V211A	--	--	1																																		C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	1	1		unknown(0)	p.V211A	NM_198699	NP_941972		tolerated(0.55)	1	KR10C_HUMAN	KRTAP10-12	HGNC	P60413	KR10C_HUMAN					1	662	+			UPI000021C445	211			19 X 5 AA repeats of C-C-X(3).		SNV	KRTAP10-12,missense_variant,p.Val211Ala,ENST00000400365,NM_198699.1;TSPEAR,intron_variant,,ENST00000323084,NM_001272037.1,NM_144991.2;KRTAP10-13P,upstream_gene_variant,,ENST00000412914,;	uc002zfw.1	c.632T>C	662/873	3	3			c.632T>C						21	SNP	c.(631-633)GTC>GCC	13	13				0	Broad	keratin associated protein 10-12			46117748		0.726	ENSG00000189169	8359	g.chr21:46117748T>C		keratin filament								-20.732767	KEEP	4	2	-1	82	72	4	2	-1	6.647696	82	72	0.027027	1	0	0	0	0	1	0	0	0	--	--		0	C			C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	28	GBM-06-0157-TP	p.V211A	T	CGCGTGCCCGTCCCCTCCTGC	NM_198699	NP_941972	46117748	P60413	KR10C_HUMAN	0			1	662	+	C	C			Missense_Mutation	211			19 X 5 AA repeats of C-C-X(3).			
KRTAP10-12	0	broad.mit.edu	GRCh37	21	46117103	46117103	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T			TCGA-41-3393-01	TCGA-41-3393-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400365.3:c.-14C>T		*5*	ENST00000400365	NM_198699.1			0			1			T		uc002zfw.1	protein_coding	YES	CCDS42967.1			-/738										0	c.(-15--11)CACGG>CATGG				keratin associated protein 10-12				ENSP00000383216		1-Jan	5.77E-05	0.000102		0.000232		4.57E-05		7.67E-05	rs782473031	1-Jan	.		ENST00000400365	Transcript				keratin filament		ENSG00000189169	g.chr21:46117103C>T	20533			MODIFIER								--	--	1																																		C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron		1				NM_198699	NP_941972				KR10C_HUMAN	KRTAP10-12	HGNC	P60413	KR10C_HUMAN					1	17	+			UPI000021C445						SNV	KRTAP10-12,5_prime_UTR_variant,,ENST00000400365,NM_198699.1;TSPEAR,intron_variant,,ENST00000323084,NM_001272037.1,NM_144991.2;	uc002zfw.1	c.-13C>T	17/873	2	2			c.-13C>T						21	SNP	c.(-15--11)CACGG>CATGG	17	17				0	Broad	keratin associated protein 10-12			46117103		0.408	ENSG00000189169	8359	g.chr21:46117103C>T		keratin filament								73.967454	KEEP	20	21	-1	67	50	20	21	-1	81.710844	67	50	0.25	1	0	0	0	0	0	0	0	0	--	--		0	T			C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	255	GBM-41-3393-TP		C	ACCCCCAGCACGGCTGCATCC	NM_198699	NP_941972	46117103	P60413	KR10C_HUMAN	0			1	17	+	T	T			Translation_Start_Site							
KRTAP10-12	386685		GRCh37	21	46117243	46117243	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000400365.3:c.127G>A	p.Ala43Thr	p.A43T	ENST00000400365	NM_198699.1	43	Gcc/Acc	0																																																																																																																																																																																																																																												
KRTAP10-2	0	broad.mit.edu	GRCh37	21	45971183	45971183	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-19-2629-01	TCGA-19-2629-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000391621.1:c.159G>C	p.Val53=	p.V53=	ENST00000391621	NM_198693.2	53	gtG/gtC	0		G:0	1	G:0		G	V	uc002zfi.1	protein_coding	YES	CCDS42955.1			159/768									large_intestine(1)	1	c.(157-159)GTG>GTC			Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF8	keratin associated protein 10-2		G:0		ENSP00000375479	G:0	1-Jan	8.24E-06							6.08E-05	rs587703858,COSM2156360	1-Jan	.		ENST00000391621	Transcript		G:0.0002		keratin filament		ENSG00000205445	g.chr21:45971183C>G	22967			LOW								--	--	1																																		C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	0,1	1			p.V53V	NM_198693	NP_941966	G:0.001		0,1	KR102_HUMAN	KRTAP10-2	HGNC	P60368	KR102_HUMAN					1	206	-			UPI000021C438	53			22 X 5 AA repeats of C-C-X(3).		SNV	KRTAP10-2,synonymous_variant,p.=,ENST00000391621,NM_198693.2;TSPEAR,intron_variant,,ENST00000323084,NM_001272037.1,NM_144991.2;TSPEAR,intron_variant,,ENST00000397916,;KRTAP10-2,intron_variant,,ENST00000498210,;	uc002zfi.1	c.159G>C	206/1149	4	4			c.159G>C						21	SNP	c.(157-159)GTG>GTC	29	29			large_intestine(1)	1	Broad	keratin associated protein 10-2			45971183		0.697	ENSG00000205445	8360	g.chr21:45971183C>G		keratin filament								119.789225	KEEP	23	18	-1	31	31	23	18	-1	119.801234	31	31	0.486486	1	0	0	0	0	0	0	1	0	--	--		0	G			C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	166	GBM-19-2629-TP	p.V53V	C	AGGGGCTGGACACACAGCTCA	NM_198693	NP_941966	45971183	P60368	KR102_HUMAN	0			1	206	-	G	G			Silent	53			22 X 5 AA repeats of C-C-X(3).			
KRTAP10-2	0	broad.mit.edu	GRCh37	21	45970888	45970888	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-4068-01	TCGA-19-4068-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000391621.1:c.454G>A	p.Val152Met	p.V152M	ENST00000391621	NM_198693.2	152	Gtg/Atg	0			1			T	V/M	uc002zfi.1	protein_coding	YES	CCDS42955.1			454/768									large_intestine(1)	1	c.(454-456)GTG>ATG			Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF8	keratin associated protein 10-2				ENSP00000375479		1-Jan	5.77E-05		0.000432			1.50E-05		6.06E-05	rs782638553,COSM2156502	1-Jan	common_variant		ENST00000391621	Transcript				keratin filament		ENSG00000205445	g.chr21:45970888C>T	22967			MODERATE		2.005	medium	getma.org/?cm=msa&ty=f&p=KR102_HUMAN&rb=114&re=161&var=V152M	NA	getma.org/?cm=var&var=hg19,21,45970888,C,T&fts=all	V152M	--	--	1																																		C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	0,1	1		unknown(0)	p.V152M	NM_198693	NP_941966		tolerated(0.07)	0,1	KR102_HUMAN	KRTAP10-2	HGNC	P60368	KR102_HUMAN					1	501	-			UPI000021C438	152			13.|22 X 5 AA repeats of C-C-X(3).		SNV	KRTAP10-2,missense_variant,p.Val152Met,ENST00000391621,NM_198693.2;TSPEAR,intron_variant,,ENST00000323084,NM_001272037.1,NM_144991.2;TSPEAR,intron_variant,,ENST00000397916,;KRTAP10-2,intron_variant,,ENST00000498210,;	uc002zfi.1	c.454G>A	501/1149	2	2			c.454G>A						21	SNP	c.(454-456)GTG>ATG	21	21			large_intestine(1)	1	Broad	keratin associated protein 10-2			45970888		0.617	ENSG00000205445	8360	g.chr21:45970888C>T		keratin filament								188.178529	KEEP	36	35	-1	59	42	36	35	-1	188.880105	59	42	0.426667	1	0	0	0	0	1	0	0	0	--	--		0	T			C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	168	GBM-19-4068-TP	p.V152M	C	CAGGTGGGCACGCAGCACACA	NM_198693	NP_941966	45970888	P60368	KR102_HUMAN	0			1	501	-	T	T			Missense_Mutation	152			13.|22 X 5 AA repeats of C-C-X(3).			
KRTAP10-3	386682	broad.mit.edu	GRCh37	21	45978434	45978434	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0188-01	TCGA-06-0188-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000391620.1:c.165C>T	p.Ser55=	p.S55=	ENST00000391620	NM_198696.2	55	agC/agT	0			1			A	S	uc002zfj.1	protein_coding	YES	CCDS42956.1			165/666									skin(1)	1	c.(163-165)AGC>AGT			Pfam_domain:PF13885,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF30,Low_complexity_(Seg):seg	keratin associated protein 10-3				ENSP00000375478		1-Jan									COSM3405456	1-Jan	.		ENST00000391620	Transcript				keratin filament		ENSG00000212935	g.chr21:45978434G>A	22968			LOW								--	--	1																																		C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	1	1			p.S55S	NM_198696	NP_941969			1	KR103_HUMAN	KRTAP10-3	HGNC	P60369	KR103_HUMAN					1	210	-			UPI00003D4D6D	55			18 X 5 AA repeats of C-C-X(3).		SNV	KRTAP10-3,synonymous_variant,p.=,ENST00000391620,NM_198696.2;TSPEAR,intron_variant,,ENST00000323084,NM_001272037.1,NM_144991.2;TSPEAR,intron_variant,,ENST00000397916,;	uc002zfj.1	c.165C>T	210/971	1	1			c.165C>T						21	SNP	c.(163-165)AGC>AGT	63	63			skin(1)	1	Broad	keratin associated protein 10-3			45978434		0.652	ENSG00000212935	8361	g.chr21:45978434G>A		keratin filament								1.562731	KEEP	3	5	-1	37	47	3	5	-1	14.559843	37	47	0.090909	1	0	0	0	0	0	0	1	0	--	--		0	A			C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	41	GBM-06-0188-TP	p.S55S	G	GGCAGCAGGGGCTGGACACAC	NM_198696	NP_941969	45978434	P60369	KR103_HUMAN	0			1	210	-	A	A			Silent	55			18 X 5 AA repeats of C-C-X(3).			
KRTAP10-3	386682	broad.mit.edu	GRCh37	21	45978487	45978487	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0192-01	TCGA-06-0192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000391620.1:c.112G>A	p.Ala38Thr	p.A38T	ENST00000391620	NM_198696.2	38	Gcc/Acc	0		T:0	1	T:0		T	A/T	uc002zfj.1	protein_coding	YES	CCDS42956.1			112/666									skin(1)	1	c.(112-114)GCC>ACC			Pfam_domain:PF13885,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF30,Low_complexity_(Seg):seg	keratin associated protein 10-3		T:0		ENSP00000375478	T:0	1-Jan	3.30E-05			0.000235		1.53E-05		6.09E-05	rs587776082,COSM3405457	1-Jan	.		ENST00000391620	Transcript		T:0.0002		keratin filament		ENSG00000212935	g.chr21:45978487C>T	22968			MODERATE		1.185	low	getma.org/?cm=msa&ty=f&p=KR103_HUMAN&rb=1&re=88&var=A38T	NA	getma.org/?cm=var&var=hg19,21,45978487,C,T&fts=all	A38T	--	--	1																																		C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	0,1	1		unknown(0)	p.A38T	NM_198696	NP_941969	T:0.001	tolerated(0.25)	0,1	KR103_HUMAN	KRTAP10-3	HGNC	P60369	KR103_HUMAN					1	157	-			UPI00003D4D6D	38			3.|18 X 5 AA repeats of C-C-X(3).		SNV	KRTAP10-3,missense_variant,p.Ala38Thr,ENST00000391620,NM_198696.2;TSPEAR,intron_variant,,ENST00000323084,NM_001272037.1,NM_144991.2;TSPEAR,intron_variant,,ENST00000397916,;	uc002zfj.1	c.112G>A	157/971	1	1			c.112G>A						21	SNP	c.(112-114)GCC>ACC	15	15			skin(1)	1	Broad	keratin associated protein 10-3			45978487		0.697	ENSG00000212935	8361	g.chr21:45978487C>T		keratin filament								3.951665	KEEP	5	6	-1	57	48	5	6	-1	15.227892	57	48	0.108108	1	0	0	0	0	1	0	0	0	--	--		0	T			C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	44	GBM-06-0192-TP	p.A38T	C	GGGGCCGGGGCGCAGCAGCTG	NM_198696	NP_941969	45978487	P60369	KR103_HUMAN	0			1	157	-	T	T			Missense_Mutation	38			3.|18 X 5 AA repeats of C-C-X(3).			
KRTAP10-4	386672	broad.mit.edu	GRCh37	21	45993777	45993777	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01	TCGA-06-2564-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400374.3:c.142G>A	p.Ala48Thr	p.A48T	ENST00000400374	NM_198687.1	48	Gcc/Acc	0	A:0.0013		1			A	A/T	uc002zfk.1	protein_coding	YES	CCDS42957.1			142/1206										0	c.(142-144)GCC>ACC			hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF19,Low_complexity_(Seg):seg	keratin associated protein 10-4			A:0.0002	ENSP00000383225		1-Jan	0.000108	0.000692	9.42E-05			4.79E-05			rs201736033,COSM3405458	1-Jan	common_variant		ENST00000400374	Transcript				keratin filament		ENSG00000215454	g.chr21:45993777G>A	20521			MODERATE		0.63	neutral	getma.org/?cm=msa&ty=f&p=KR104_HUMAN&rb=1&re=123&var=A48T	NA	getma.org/?cm=var&var=hg19,21,45993777,G,A&fts=all	A48T	--	--	1																																		C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	0,1	1		benign(0.137)	p.A48T	NM_198687	NP_941960		tolerated(0.27)	0,1	KR104_HUMAN	KRTAP10-4	HGNC	P60372	KR104_HUMAN					1	172	+			UPI000021C43B	48			3.|36 X 5 AA repeats of C-C-X(3).		SNV	KRTAP10-4,missense_variant,p.Ala48Thr,ENST00000400374,NM_198687.1;TSPEAR,intron_variant,,ENST00000323084,NM_001272037.1,NM_144991.2;TSPEAR,upstream_gene_variant,,ENST00000397916,;	uc002zfk.1	c.142G>A	172/1382	2	2			c.142G>A						21	SNP	c.(142-144)GCC>ACC	47	47				0	Broad	keratin associated protein 10-4			45993777		0.701	ENSG00000215454	8362	g.chr21:45993777G>A		keratin filament								20.151212	KEEP	7	10	-1	39	37	7	10	-1	23.141074	39	37	0.227273	1	0	0	0	0	1	0	0	0	--	--		0	A			C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	87	GBM-06-2564-TP	p.A48T	G	CAGCTGCTGCGCCCCGGCCCC	NM_198687	NP_941960	45993777	P60372	KR104_HUMAN	0			1	172	+	A	A			Missense_Mutation	48			3.|36 X 5 AA repeats of C-C-X(3).			
KRTAP10-6	386674	broad.mit.edu	GRCh37	21	46011400	46011400	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0126-01	TCGA-06-0126-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400368.1:c.966C>T	p.Ser322=	p.S322=	ENST00000400368	NM_198688.2	322	tcC/tcT	0			1			A	S	uc002zfm.2	protein_coding	YES	CCDS42959.1			966/1098										0	c.(964-966)TCC>TCT			hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF18,Pfam_domain:PF13885	keratin associated protein 10-6				ENSP00000383219		1-Jan	0.000264	9.67E-05	0.000432	0.000471		0.00012		0.000848	rs371252868,COSM245367	1-Jan	common_variant		ENST00000400368	Transcript				keratin filament		ENSG00000188155	g.chr21:46011400G>A	20523			LOW								--	--	1																																		C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	0,1	1			p.S322S	NM_198688	NP_941961			0,1	KR106_HUMAN	KRTAP10-6	HGNC	P60371	KR106_HUMAN					1	987	-			UPI0000E5A408	322			29 X 5 AA repeats of C-C-X(3).		SNV	KRTAP10-6,synonymous_variant,p.=,ENST00000400368,NM_198688.2;TSPEAR,intron_variant,,ENST00000323084,NM_001272037.1,NM_144991.2;	uc002zfm.2	c.966C>T	987/1238	2	2			c.966C>T						21	SNP	c.(964-966)TCC>TCT	42	42				0	Broad	keratin associated protein 10-6			46011400		0.692	ENSG00000188155	8364	g.chr21:46011400G>A		keratin filament								-14.180212	KEEP	2	3	-1	52	55	2	3	-1	8.619426	52	55	0.04	1	0	0	0	0	0	0	1	0	--	--		0	A			C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	13	GBM-06-0126-TP	p.S322S	G	AGGCACCACAGGAGGGGACGG	NM_198688	NP_941961	46011400	P60371	KR106_HUMAN	0			1	987	-	A	A			Silent	322			29 X 5 AA repeats of C-C-X(3).			
KRTAP10-6	386674	broad.mit.edu	GRCh37	21	46011400	46011400	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0210-01	TCGA-06-0210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400368.1:c.966C>T	p.Ser322=	p.S322=	ENST00000400368	NM_198688.2	322	tcC/tcT	0			1			A	S	uc002zfm.2	protein_coding	YES	CCDS42959.1			966/1098										0	c.(964-966)TCC>TCT			hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF18,Pfam_domain:PF13885	keratin associated protein 10-6				ENSP00000383219		1-Jan	0.000264	9.67E-05	0.000432	0.000471		0.00012		0.000848	rs371252868,COSM245367	1-Jan	common_variant		ENST00000400368	Transcript				keratin filament		ENSG00000188155	g.chr21:46011400G>A	20523			LOW								--	--	1																																		C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	0,1	1			p.S322S	NM_198688	NP_941961			0,1	KR106_HUMAN	KRTAP10-6	HGNC	P60371	KR106_HUMAN					1	987	-			UPI0000E5A408	322			29 X 5 AA repeats of C-C-X(3).		SNV	KRTAP10-6,synonymous_variant,p.=,ENST00000400368,NM_198688.2;TSPEAR,intron_variant,,ENST00000323084,NM_001272037.1,NM_144991.2;	uc002zfm.2	c.966C>T	987/1238	2	2			c.966C>T						21	SNP	c.(964-966)TCC>TCT	42	42				0	Broad	keratin associated protein 10-6			46011400		0.692	ENSG00000188155	8364	g.chr21:46011400G>A		keratin filament								-30.024204	KEEP	2	5	-1	87	80	2	5	-1	8.258003	87	80	0.025974	1	0	0	0	0	0	0	1	0	--	--		0	A			C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	47	GBM-06-0210-TP	p.S322S	G	AGGCACCACAGGAGGGGACGG	NM_198688	NP_941961	46011400	P60371	KR106_HUMAN	0			1	987	-	A	A			Silent	322			29 X 5 AA repeats of C-C-X(3).			
KRTAP10-6	0	broad.mit.edu	GRCh37	21	46011400	46011400	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-5135-01	TCGA-26-5135-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400368.1:c.966C>T	p.Ser322=	p.S322=	ENST00000400368	NM_198688.2	322	tcC/tcT	0			1			A	S	uc002zfm.2	protein_coding	YES	CCDS42959.1			966/1098										0	c.(964-966)TCC>TCT			hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF18,Pfam_domain:PF13885	keratin associated protein 10-6				ENSP00000383219		1-Jan	0.000264	9.67E-05	0.000432	0.000471		0.00012		0.000848	rs371252868,COSM245367	1-Jan	common_variant		ENST00000400368	Transcript				keratin filament		ENSG00000188155	g.chr21:46011400G>A	20523			LOW								--	--	1																																		C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	0,1	1			p.S322S	NM_198688	NP_941961			0,1	KR106_HUMAN	KRTAP10-6	HGNC	P60371	KR106_HUMAN					1	987	-			UPI0000E5A408	322			29 X 5 AA repeats of C-C-X(3).		SNV	KRTAP10-6,synonymous_variant,p.=,ENST00000400368,NM_198688.2;TSPEAR,intron_variant,,ENST00000323084,NM_001272037.1,NM_144991.2;	uc002zfm.2	c.966C>T	987/1238	2	2			c.966C>T						21	SNP	c.(964-966)TCC>TCT	42	42				0	Broad	keratin associated protein 10-6			46011400		0.692	ENSG00000188155	8364	g.chr21:46011400G>A		keratin filament								-17.337323	KEEP	5	3	-1	71	68	5	3	-1	11.173014	71	68	0.04	1	0	0	0	0	0	0	1	0	--	--		0	A			C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	184	GBM-26-5135-TP	p.S322S	G	AGGCACCACAGGAGGGGACGG	NM_198688	NP_941961	46011400	P60371	KR106_HUMAN	0			1	987	-	A	A			Silent	322			29 X 5 AA repeats of C-C-X(3).			
KRTAP10-7	0	broad.mit.edu	GRCh37	21	46021573	46021573	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-19-4068-01	TCGA-19-4068-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380102.2:c.1052T>G	p.Val351Gly	p.V351G	ENST00000380102	NM_198689.2	351	gTg/gGg	0			1			G	V/G	uc002zfn.3	protein_coding	YES				1052/1128										0	c.(1036-1038)GTG>GGG			hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF40	keratin associated protein 10-7				ENSP00000369445		1-Jan									COSM3405462,COSM3405463	1-Jan	.		ENST00000380102	Transcript				keratin filament		ENSG00000205441	g.chr21:46021573T>G	22970			MODERATE		2.16	medium	getma.org/?cm=msa&ty=f&p=KR107_HUMAN&rb=330&re=375&var=V351G	NA	getma.org/?cm=var&var=hg19,21,46021573,T,G&fts=all	V351G	--	--	1																																		C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	1,1	1		unknown(0)	p.V346G	NM_198689	NP_941962		deleterious(0.01)	1,1	KR107_HUMAN	KRTAP10-7	HGNC	P60409	KR107_HUMAN					2	1062	+			UPI000036709B	351			30 X 5 AA repeats of C-C-X(3).		SNV	KRTAP10-7,missense_variant,p.Val351Gly,ENST00000380102,NM_198689.2;TSPEAR,intron_variant,,ENST00000323084,NM_001272037.1,NM_144991.2;AL773602.1,non_coding_transcript_exon_variant,,ENST00000339001,;	uc002zfn.3	c.1037T>G	1077/1595	3	3			c.1037T>G						21	SNP	c.(1036-1038)GTG>GGG	9	9				0	Broad	keratin associated protein 10-7			46021573		0.672	ENSG00000205441	8365	g.chr21:46021573T>G		keratin filament								101.935118	KEEP	18	18	-1	29	21	18	18	-1	102.094467	29	21	0.447761	1	0	0	0	0	1	0	0	0	--	--		0	G			C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	168	GBM-19-4068-TP	p.V346G	T	GCCTCCTGTGTGTCTCTCCTT	NM_198689	NP_941962	46021573	P60409	KR107_HUMAN	0			2	1062	+	G	G			Missense_Mutation	351			30 X 5 AA repeats of C-C-X(3).			
KRTAP10-7	386675		GRCh37	21	46021295	46021295	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000380102.2:c.774A>C	p.Pro258=	p.P258=	ENST00000380102	NM_198689.2	258	ccA/ccC	0																																																																																																																																																																																																																																												
KRTAP10-8	386681	broad.mit.edu	GRCh37	21	46032419	46032419	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0876-01	TCGA-06-0876-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334662.2:c.402C>T	p.Cys134=	p.C134=	ENST00000334662	NM_198695.2	134	tgC/tgT	0			1			T	C	uc002zfo.1	protein_coding	YES	CCDS13713.1			402/780									large_intestine(1)|breast(1)	2	c.(400-402)TGC>TGT			Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF8,hmmpanther:PTHR23262	keratin associated protein 10-8				ENSP00000335565		1-Jan	3.29E-05	9.61E-05				4.50E-05			rs782140997,COSM3405465	1-Jan	.		ENST00000334662	Transcript				keratin filament		ENSG00000187766	g.chr21:46032419C>T	20525			LOW								--	--	1																																		C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	0,1	1			p.C134C	NM_198695	NP_941968			0,1	KR108_HUMAN	KRTAP10-8	HGNC	P60410	KR108_HUMAN					1	424	+			UPI000036709C	134			19 X 5 AA repeats of C-C-X(3).|8.		SNV	KRTAP10-8,synonymous_variant,p.=,ENST00000334662,NM_198695.2;TSPEAR,intron_variant,,ENST00000323084,NM_001272037.1,NM_144991.2;	uc002zfo.1	c.402C>T	424/876	2	2			c.402C>T						21	SNP	c.(400-402)TGC>TGT	34	34			large_intestine(1)|breast(1)	2	Broad	keratin associated protein 10-8			46032419		0.627	ENSG00000187766	8366	g.chr21:46032419C>T		keratin filament								-1.511319	KEEP	15	9	-1	153	99	15	9	-1	45.052879	153	99	0.080769	1	0	0	0	0	0	0	1	0	--	--		0	T			C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	72	GBM-06-0876-TP	p.C134C	C	CCGTGTGCTGCGTGTCCATCT	NM_198695	NP_941968	46032419	P60410	KR108_HUMAN	0			1	424	+	T	T			Silent	134			19 X 5 AA repeats of C-C-X(3).|8.			
KRTAP10-8	0	broad.mit.edu	GRCh37	21	46032293	46032293	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-1597-01	TCGA-12-1597-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334662.2:c.276C>T	p.Asp92=	p.D92=	ENST00000334662	NM_198695.2	92	gaC/gaT	0			1			T	D	uc002zfo.1	protein_coding	YES	CCDS13713.1			276/780									large_intestine(1)|breast(1)	2	c.(274-276)GAC>GAT			Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF8,hmmpanther:PTHR23262	keratin associated protein 10-8				ENSP00000335565		1-Jan									COSM3405464	1-Jan	.		ENST00000334662	Transcript				keratin filament		ENSG00000187766	g.chr21:46032293C>T	20525			LOW								--	--	1																																		C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	1	1			p.D92D	NM_198695	NP_941968			1	KR108_HUMAN	KRTAP10-8	HGNC	P60410	KR108_HUMAN					1	298	+			UPI000036709C	92			19 X 5 AA repeats of C-C-X(3).		SNV	KRTAP10-8,synonymous_variant,p.=,ENST00000334662,NM_198695.2;TSPEAR,intron_variant,,ENST00000323084,NM_001272037.1,NM_144991.2;	uc002zfo.1	c.276C>T	298/876	2	2			c.276C>T						21	SNP	c.(274-276)GAC>GAT	20	20			large_intestine(1)|breast(1)	2	Broad	keratin associated protein 10-8			46032293		0.662	ENSG00000187766	8366	g.chr21:46032293C>T		keratin filament								161.959721	KEEP	28	33	-1	42	30	28	33	-1	162.082368	42	30	0.464912	1	0	0	0	0	0	0	1	0	--	--		0	T			C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	124	GBM-12-1597-TP	p.D92D	C	GCTGCACCGACTCCTGCACAC	NM_198695	NP_941968	46032293	P60410	KR108_HUMAN	0			1	298	+	T	T			Silent	92			19 X 5 AA repeats of C-C-X(3).			
KRTAP10-9	386676	broad.mit.edu	GRCh37	21	46047200	46047200	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01	TCGA-06-5415-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397911.3:c.112G>A	p.Ala38Thr	p.A38T	ENST00000397911	NM_198690.2	38	Gcc/Acc	0	A:0		1			A	A/T	uc002zfp.3	protein_coding	YES	CCDS42961.1			112/879										0	c.(112-114)GCC>ACC			Low_complexity_(Seg):seg,Pfam_domain:PF13885,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF18	keratin associated protein 10-9			A:0.0004	ENSP00000381009		1-Jan	7.43E-05			0.000117		9.07E-05		0.000122	rs201090014,COSM1741738	1-Jan	.		ENST00000397911	Transcript				keratin filament		ENSG00000221837	g.chr21:46047200G>A	22971			MODERATE		1.56	low	getma.org/?cm=msa&ty=f&p=KR109_HUMAN&rb=19&re=59&var=A38T	NA	getma.org/?cm=var&var=hg19,21,46047200,G,A&fts=all	A38T	--	--	1																																		C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	0,1	1		unknown(0)	p.A38T	NM_198690	NP_941963		tolerated(0.25)	0,1	KR109_HUMAN	KRTAP10-9	HGNC	P60411	KR109_HUMAN					1	161	+			UPI000036709D	38			3.|25 X 5 AA repeats of C-C-X(3).		SNV	KRTAP10-9,missense_variant,p.Ala38Thr,ENST00000397911,NM_198690.2;TSPEAR,intron_variant,,ENST00000323084,NM_001272037.1,NM_144991.2;KRTAP10-9,non_coding_transcript_exon_variant,,ENST00000484861,;	uc002zfp.3	c.112G>A	161/1255	1	1			c.112G>A						21	SNP	c.(112-114)GCC>ACC	56	56				0	Broad	keratin associated protein 10-9			46047200		0.687	ENSG00000221837	8367	g.chr21:46047200G>A		keratin filament								8.305373	KEEP	7	5	-1	40	48	7	5	-1	20.271704	40	48	0.119048	1	0	0	0	0	1	0	0	0	--	--		0	A			C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	98	GBM-06-5415-TP	p.A38T	G	CAGCTGCTGCGCCCCGGCCCC	NM_198690	NP_941963	46047200	P60411	KR109_HUMAN	0			1	161	+	A	A			Missense_Mutation	38			3.|25 X 5 AA repeats of C-C-X(3).			
KRTAP10-9	0	broad.mit.edu	GRCh37	21	46047750	46047750	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-0871-01	TCGA-14-0871-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397911.3:c.662C>A	p.Thr221Asn	p.T221N	ENST00000397911	NM_198690.2	221	aCc/aAc	0			1			A	T/N	uc002zfp.3	protein_coding	YES	CCDS42961.1			662/879										0	c.(661-663)ACC>AAC			Low_complexity_(Seg):seg,Pfam_domain:PF13885,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF18	keratin associated protein 10-9				ENSP00000381009		1-Jan									COSM3405466	1-Jan	.		ENST00000397911	Transcript				keratin filament		ENSG00000221837	g.chr21:46047750C>A	22971			MODERATE		2.395	medium	getma.org/?cm=msa&ty=f&p=KR109_HUMAN&rb=209&re=254&var=T221N	NA	getma.org/?cm=var&var=hg19,21,46047750,C,A&fts=all	T221N	--	--	1																																		C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	1	1		possibly_damaging(0.728)	p.T221N	NM_198690	NP_941963		tolerated(0.11)	1	KR109_HUMAN	KRTAP10-9	HGNC	P60411	KR109_HUMAN					1	711	+			UPI000036709D	221			22.|25 X 5 AA repeats of C-C-X(3).		SNV	KRTAP10-9,missense_variant,p.Thr221Asn,ENST00000397911,NM_198690.2;TSPEAR,intron_variant,,ENST00000323084,NM_001272037.1,NM_144991.2;KRTAP10-9,intron_variant,,ENST00000484861,;	uc002zfp.3	c.662C>A	711/1255	2	2			c.662C>A						21	SNP	c.(661-663)ACC>AAC	46	46				0	Broad	keratin associated protein 10-9			46047750		0.657	ENSG00000221837	8367	g.chr21:46047750C>A		keratin filament								42.712364	KEEP	32	29	0.475409836	244	234	32	29	0.475409836	93.487907	244	234	0.121547	1	0	0	0	0	1	0	0	0	--	--		0	A			C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	141	GBM-14-0871-TP	p.T221N	C	GCTTGCTGCACCACCTCCTGC	NM_198690	NP_941963	46047750	P60411	KR109_HUMAN	0			1	711	+	A	A			Missense_Mutation	221			22.|25 X 5 AA repeats of C-C-X(3).			
KRTAP11-1	0	broad.mit.edu	GRCh37	21	32253366	32253366	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5950-01	TCGA-19-5950-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332378.4:c.478C>T	p.Arg160Ter	p.R160*	ENST00000332378	NM_175858.2	160	Cga/Tga	0	A:0		1			A	R/*	uc002yov.2	protein_coding	YES	CCDS13608.1			478/492									pancreas(1)	1	c.(478-480)CGA>TGA				keratin associated protein 11-1			A:0.0001	ENSP00000330720		1-Jan	0.000124		0.000173		0.000151	0.000183			rs369918804,COSM3405349	1-Jan	.		ENST00000332378	Transcript				keratin filament	structural molecule activity	ENSG00000182591	g.chr21:32253366G>A	18922			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,21,32253366,G,A&fts=all	R160*	--	--	1																																			0,1	1			p.R160*	NM_175858	NP_787054			0,1	KR111_HUMAN	KRTAP11-1	HGNC	Q8IUC1	KR111_HUMAN					1	509	-			UPI000003B46F	160					SNV	KRTAP11-1,stop_gained,p.Arg160Ter,ENST00000332378,NM_175858.2;	uc002yov.2	c.478C>T	509/909	5	1			c.478C>T						21	SNP	c.(478-480)CGA>TGA	62	62			pancreas(1)	1	Broad	keratin associated protein 11-1			32253366		0.562	ENSG00000182591	8368	g.chr21:32253366G>A		keratin filament	structural molecule activity							29.030641	KEEP	4	13	-1	31	52	4	13	-1	38.074183	31	52	0.164706	1	0	0	0	0	0	1	0	0	--	--		0	A				170	GBM-19-5950-TP	p.R160*	G	CAGGTTCTTCGGCAGCTGGAC	NM_175858	NP_787054	32253366	Q8IUC1	KR111_HUMAN	0			1	509	-	A	A			Nonsense_Mutation	160						
KRTAP12-3	386683		GRCh37	21	46078019	46078019	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000397907.1:c.123G>A	p.Thr41=	p.T41=	ENST00000397907	NM_198697.2	41	acG/acA	0																																																																																																																																																																																																																																												
KRTAP12-4	386684	broad.mit.edu	GRCh37	21	46074201	46074201	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01	TCGA-06-2570-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000391618.1:c.331G>A	p.Gly111Ser	p.G111S	ENST00000391618	NM_198698.1	111	Ggc/Agc	0			1			T	G/S	uc002zfs.1	protein_coding	YES	CCDS42963.1			331/339									ovary(1)	1	c.(331-333)GGC>AGC			hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF39	keratin associated protein 12-4				ENSP00000375476		1-Jan	8.27E-06				0.000157				rs782538322,COSM2153111	1-Jan	.		ENST00000391618	Transcript				keratin filament		ENSG00000212933	g.chr21:46074201C>T	20532			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=KR124_HUMAN&rb=1&re=112&var=G111S	NA	getma.org/?cm=var&var=hg19,21,46074201,C,T&fts=all	G111S	--	--	1																																		C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	0,1	1		benign(0.009)	p.G111S	NM_198698	NP_941971		deleterious(0.04)	0,1	KR124_HUMAN	KRTAP12-4	HGNC	P60329	KR124_HUMAN					1	376	-			UPI000021C443	111					SNV	KRTAP12-4,missense_variant,p.Gly111Ser,ENST00000391618,NM_198698.1;TSPEAR,intron_variant,,ENST00000323084,NM_001272037.1,NM_144991.2;KRTAP12-3,upstream_gene_variant,,ENST00000397907,NM_198697.2;	uc002zfs.1	c.331G>A	376/447	2	2			c.331G>A						21	SNP	c.(331-333)GGC>AGC	35	35			ovary(1)	1	Broad	keratin associated protein 12-4			46074201		0.622	ENSG00000212933	8372	g.chr21:46074201C>T		keratin filament								96.821497	KEEP	14	24	-1	20	25	14	24	-1	96.902181	20	25	0.462687	1	0	0	0	0	1	0	0	0	--	--		0	T			C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	91	GBM-06-2570-TP	p.G111S	C	GCTCAGCAGCCAGTGGGGGTG	NM_198698	NP_941971	46074201	P60329	KR124_HUMAN	0			1	376	-	T	T			Missense_Mutation	111						
KRTAP13-1	140258	broad.mit.edu	GRCh37	21	31768833	31768833	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0171-01	TCGA-06-0171-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355459.2:c.429C>T	p.Gly143=	p.G143=	ENST00000355459	NM_181599.2	143	ggC/ggT	0			1			T	G	uc002yoa.2	protein_coding	YES	CCDS13590.2			429/519									ovary(1)	1	c.(427-429)GGC>GGT			hmmpanther:PTHR19051:SF17,hmmpanther:PTHR19051,Pfam_domain:PF05287	keratin associated protein 13-1				ENSP00000347635		1-Jan	8.24E-06	9.62E-05							rs565845316,COSM2150318	1-Jan	.		ENST00000355459	Transcript				intermediate filament		ENSG00000198390	g.chr21:31768833C>T	18924			LOW								--	--	1																																			0,1	1			p.G143G	NM_181599	NP_853630			0,1	KR131_HUMAN	KRTAP13-1	HGNC	Q8IUC0	KR131_HUMAN					1	442	+			UPI00001618F7	143					SNV	KRTAP13-1,synonymous_variant,p.=,ENST00000355459,NM_181599.2;	uc002yoa.2	c.429C>T	442/745	2	2			c.429C>T						21	SNP	c.(427-429)GGC>GGT	37	37			ovary(1)	1	Broad	keratin associated protein 13-1			31768833		0.542	ENSG00000198390	8373	g.chr21:31768833C>T		intermediate filament								65.312678	KEEP	6	17	-1	26	25	6	17	-1	66.646317	26	25	0.348485	1	0	0	0	0	0	0	1	0	--	--		0	T				35	GBM-06-0171-TP	p.G143G	C	TGGGCTATGGCGTTGGATTCT	NM_181599	NP_853630	31768833	Q8IUC0	KR131_HUMAN	0			1	442	+	T	T			Silent	143						
KRTAP13-1	140258		GRCh37	21	31768677	31768677	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000355459.2:c.273C>T	p.Pro91=	p.P91=	ENST00000355459	NM_181599.2	91	ccC/ccT	0																																																																																																																																																																																																																																												
KRTAP13-2	337959	broad.mit.edu	GRCh37	21	31744289	31744289	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0157-01	TCGA-06-0157-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399889.2:c.243C>T	p.Tyr81=	p.Y81=	ENST00000399889	NM_181621.3	81	taC/taT	0			1			A	Y	uc002ynz.3	protein_coding	YES	CCDS13589.1			243/528										0	c.(241-243)TAC>TAT			Pfam_domain:PF05287,hmmpanther:PTHR19051,hmmpanther:PTHR19051:SF17	keratin associated protein 13-2				ENSP00000382777		1-Jan	8.24E-06					1.50E-05			rs756813722,COSM2150094	1-Jan	.		ENST00000399889	Transcript				intermediate filament		ENSG00000182816	g.chr21:31744289G>A	18923			LOW								--	--	1																																			0,1	1			p.Y81Y	NM_181621	NP_853652			0,1	KR132_HUMAN	KRTAP13-2	HGNC	Q52LG2	KR132_HUMAN					1	269	-			UPI000003B46A	81			4.|5 X 10 AA approximate repeats.		SNV	KRTAP13-2,synonymous_variant,p.=,ENST00000399889,NM_181621.3;MIR4327,downstream_gene_variant,,ENST00000581194,;	uc002ynz.3	c.243C>T	269/849	2	2			c.243C>T						21	SNP	c.(241-243)TAC>TAT	37	37				0	Broad	keratin associated protein 13-2			31744289		0.602	ENSG00000182816	8374	g.chr21:31744289G>A		intermediate filament								100.665191	KEEP	21	21	-1	45	38	21	21	-1	102.725049	45	38	0.349515	1	0	0	0	0	0	0	1	0	--	--		0	A				28	GBM-06-0157-TP	p.Y81Y	G	TTCTGGGGCGGTAGCAGGAGG	NM_181621	NP_853652	31744289	Q52LG2	KR132_HUMAN	0			1	269	-	A	A			Silent	81			4.|5 X 10 AA approximate repeats.			
KRTAP15-1	254950	broad.mit.edu	GRCh37	21	31812738	31812738	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-0174-01	TCGA-06-0174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334067.3:c.93C>A	p.Pro31=	p.P31=	ENST00000334067	NM_181623.1	31	ccC/ccA	0			1			A	P	uc002yod.2	protein_coding	YES	CCDS13593.1			93/414										0	c.(91-93)CCC>CCA			Pfam_domain:PF05287,hmmpanther:PTHR19051,hmmpanther:PTHR19051:SF4	keratin associated protein 15-1				ENSP00000334866		1-Jan									COSM3405342	1-Jan	.		ENST00000334067	Transcript				intermediate filament		ENSG00000186970	g.chr21:31812738C>A	18927			LOW								--	--	1																																			1	1			p.P31P	NM_181623	NP_853654			1	KR151_HUMAN	KRTAP15-1	HGNC	Q3LI76	KR151_HUMAN					1	93	+			UPI000003B46E	31					SNV	KRTAP15-1,synonymous_variant,p.=,ENST00000334067,NM_181623.1;KRTAP13-5P,upstream_gene_variant,,ENST00000418755,;	uc002yod.2	c.93C>A	142/474	1	1			c.93C>A						21	SNP	c.(91-93)CCC>CCA	55	55				0	Broad	keratin associated protein 15-1			31812738		0.478	ENSG00000186970	8377	g.chr21:31812738C>A		intermediate filament								-23.120343	KEEP	3	1	0.25	63	72	3	1	0.25	7.685303	63	72	0.03125	1	0	0	0	0	0	0	1	0	--	--		0	A				37	GBM-06-0174-TP	p.P31P	C	TGTTCTACCCCAGCAATGCCA	NM_181623	NP_853654	31812738	Q3LI76	KR151_HUMAN	0			1	93	+	A	A			Silent	31						
KRTAP19-1	337882	broad.mit.edu	GRCh37	21	31852408	31852408	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01	TCGA-06-0878-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000390689.2:c.229C>T	p.Arg77Cys	p.R77C	ENST00000390689	NM_181607.1	77	Cgc/Tgc	0			1			A	R/C	uc011acx.1	protein_coding	YES	CCDS13594.1			229/273										0	c.(229-231)CGC>TGC			Pfam_domain:PF11759	keratin associated protein 19-1				ENSP00000375108		1-Jan									COSM2152252	1-Jan	.		ENST00000390689	Transcript				intermediate filament		ENSG00000184351	g.chr21:31852408G>A	18936			MODERATE								--	--	1																																			1	1		unknown(0)	p.R77C	NM_181607	NP_853638		deleterious_low_confidence(0.03)	1	KR191_HUMAN	KRTAP19-1	HGNC	Q8IUB9	KR191_HUMAN					1	229	-			UPI00001A9E54	77			26 X 2 AA repeats of G-[YCGS].		SNV	KRTAP19-1,missense_variant,p.Arg77Cys,ENST00000390689,NM_181607.1;	uc011acx.1	c.229C>T	256/646	2	2			c.229C>T						21	SNP	c.(229-231)CGC>TGC	43	43				0	Broad	keratin associated protein 19-1			31852408		0.488	ENSG00000184351	8379	g.chr21:31852408G>A		intermediate filament								458.322787	KEEP	88	71	-1	93	136	88	71	-1	460.244394	93	136	0.420455	1	0	0	0	0	1	0	0	0	--	--		0	A				74	GBM-06-0878-TP	p.R77C	G	TACGATGGGCGGCAGCAGCCA	NM_181607	NP_853638	31852408	Q8IUB9	KR191_HUMAN	0			1	229	-	A	A			Missense_Mutation	77			26 X 2 AA repeats of G-[YCGS].			
KRTAP19-3	337970	broad.mit.edu	GRCh37	21	31864264	31864264	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-02-0055-01	TCGA-02-0055-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334063.4:c.12C>T	p.Tyr4=	p.Y4=	ENST00000334063	NM_181609.3	4	taC/taT	0			1			A	Y	uc002yog.1	protein_coding	YES	CCDS13596.1			12/246										0	c.(10-12)TAC>TAT			Low_complexity_(Seg):seg,Pfam_domain:PF11759	keratin associated protein 19-3				ENSP00000386376		1-Jan	5.77E-05	9.61E-05	8.64E-05			1.50E-05		0.000242	rs376412934,COSM1029904	1-Jan	.		ENST00000334063	Transcript				intermediate filament		ENSG00000244025	g.chr21:31864264G>A	18938			LOW								--	--	1																																			0,1	1			p.Y4Y	NM_181609	NP_853640			0,1	KR193_HUMAN	KRTAP19-3	HGNC	Q7Z4W3	KR193_HUMAN					1	12	-			UPI00001A9E52	4					SNV	KRTAP19-3,synonymous_variant,p.=,ENST00000334063,NM_181609.3;KRTAP19-2,upstream_gene_variant,,ENST00000334055,NM_181608.1;KRTAP19-4,downstream_gene_variant,,ENST00000334058,NM_181610.1;	uc002yog.1	c.12C>T	12/494	1	1			c.12C>T						21	SNP	c.(10-12)TAC>TAT	52	52				0	Broad	keratin associated protein 19-3			31864264		0.547	ENSG00000244025	8381	g.chr21:31864264G>A		intermediate filament								148.728762	KEEP	56	76	-1	102	170	56	76	-1	154.451615	102	170	0.311111	1	0	0	0	0	0	0	1	0	--	--		0	A				4	GBM-02-0055-TP	p.Y4Y	G	AGTAGCTGCCGTAGTAGCTCA	NM_181609	NP_853640	31864264	Q7Z4W3	KR193_HUMAN	0			1	12	-	A	A			Silent	4						
KRTAP19-5	0	broad.mit.edu	GRCh37	21	31874370	31874370	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2494-01	TCGA-32-2494-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334151.2:c.39C>T	p.Tyr13=	p.Y13=	ENST00000334151	NM_181611.1	13	taC/taT	0	A:0.0002		1			A	Y	uc011ada.1	protein_coding	YES	CCDS13597.1			39/219										0	c.(37-39)TAC>TAT			Pfam_domain:PF11759,Low_complexity_(Seg):seg	keratin associated protein 19-5			A:0.0009	ENSP00000334985		1-Jan	0.000338	9.61E-05	0.000259		0.000151	0.00045	0.0011	0.000303	rs367860556,COSM3748158	1-Jan	common_variant		ENST00000334151	Transcript				intermediate filament	protein binding	ENSG00000186977	g.chr21:31874370G>A	18940			LOW								--	--	1																																			0,1	1			p.Y13Y	NM_181611	NP_853642			0,1	KR195_HUMAN	KRTAP19-5	HGNC	Q3LI72	KR195_HUMAN					1	39	-			UPI00001A9E50	13					SNV	KRTAP19-5,synonymous_variant,p.=,ENST00000334151,NM_181611.1;KRTAP19-4,upstream_gene_variant,,ENST00000334058,NM_181610.1;	uc011ada.1	c.39C>T	66/461	2	2			c.39C>T						21	SNP	c.(37-39)TAC>TAT	28	28				0	Broad	keratin associated protein 19-5			31874370		0.572	ENSG00000186977	8383	g.chr21:31874370G>A		intermediate filament	protein binding							63.553603	KEEP	21	30	-1	76	56	21	30	-1	65.996102	76	56	0.311688	1	0	0	0	0	0	0	1	0	--	--		0	A				236	GBM-32-2494-TP	p.Y13Y	G	CTCCGTAGCCGTAGCCCAGGC	NM_181611	NP_853642	31874370	Q3LI72	KR195_HUMAN	0			1	39	-	A	A			Silent	13						
KRTAP20-2	0	broad.mit.edu	GRCh37	21	32007616	32007616	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01	TCGA-76-4928-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330798.2:c.34C>T	p.Arg12Cys	p.R12C	ENST00000330798	NM_181616.1	12	Cgt/Tgt	0			1			T	R/C	uc011adg.1	protein_coding	YES	CCDS13604.1			34/198									central_nervous_system(1)	1	c.(34-36)CGT>TGT			Low_complexity_(Seg):seg,Pfam_domain:PF11759	keratin associated protein 20-2				ENSP00000330746		1-Jan	8.24E-06					1.50E-05			rs775016775,COSM3405348	1-Jan	.		ENST00000330798	Transcript				intermediate filament		ENSG00000184032	g.chr21:32007616C>T	18944			MODERATE								--	--	1																																			0,1	1		unknown(0)	p.R12C	NM_181616	NP_853647			0,1	KR202_HUMAN	KRTAP20-2	HGNC	Q3LI61	KR202_HUMAN					1	34	+			UPI00001A9E4C	12					SNV	KRTAP20-2,missense_variant,p.Arg12Cys,ENST00000330798,NM_181616.1;	uc011adg.1	c.34C>T	62/384	2	2			c.34C>T						21	SNP	c.(34-36)CGT>TGT	33	33			central_nervous_system(1)	1	Broad	keratin associated protein 20-2			32007616		0.517	ENSG00000184032	8388	g.chr21:32007616C>T		intermediate filament								19.013904	KEEP	14	8	-1	69	82	14	8	-1	34.442498	69	82	0.134454	1	0	0	0	0	1	0	0	0	--	--		0	T				268	GBM-76-4928-TP	p.R12C	C	TGGTGGTCTGCGTTATGGCTA	NM_181616	NP_853647	32007616	Q3LI61	KR202_HUMAN	0			1	34	+	T	T			Missense_Mutation	12						
KRTAP22-1	337979	broad.mit.edu	GRCh37	21	31973461	31973461	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6389-01	TCGA-06-6389-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334680.2:c.22C>T	p.His8Tyr	p.H8Y	ENST00000334680	NM_181620.1	8	Cat/Tat	0			1			T	H/Y	uc011add.1	protein_coding	YES	CCDS13601.1			22/147										0	c.(22-24)CAT>TAT			Pfam_domain:PF11759	keratin associated protein 22-1				ENSP00000333887		1-Jan									COSM2153416	1-Jan	.		ENST00000334680	Transcript				intermediate filament		ENSG00000186924	g.chr21:31973461C>T	18947			MODERATE								--	--	1																																		KRTAP6-2_uc011adc.1_5'Flank	1	1		unknown(0)	p.H8Y	NM_181620	NP_853651			1	KR221_HUMAN	KRTAP22-1	HGNC	Q3MIV0	KR221_HUMAN					1	22	+			UPI00001A9E4B	8					SNV	KRTAP22-1,missense_variant,p.His8Tyr,ENST00000334680,NM_181620.1;KRTAP6-2,upstream_gene_variant,,ENST00000334897,NM_181604.1;	uc011add.1	c.22C>T	48/199	1	1			c.22C>T						21	SNP	c.(22-24)CAT>TAT	3	3				0	Broad	keratin associated protein 22-1			31973461		0.423	ENSG00000186924	8391	g.chr21:31973461C>T		intermediate filament								75.826651	KEEP	16	21	-1	59	93	16	21	-1	89.627026	59	93	0.194969	1	0	0	0	0	1	0	0	0	--	--		0	T			KRTAP6-2_uc011adc.1_5'Flank	105	GBM-06-6389-TP	p.H8Y	C	TAACAACTACCATGGTGGCCA	NM_181620	NP_853651	31973461	Q3MIV0	KR221_HUMAN	0			1	22	+	T	T			Missense_Mutation	8						
KRTAP26-1	388818		GRCh37	21	31692021	31692021	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000360542.3:c.333C>T	p.Ser111=	p.S111=	ENST00000360542	NM_203405.1	111	tcC/tcT	0																																																																																																																																																																																																																																												
KRTAP4-4	0	broad.mit.edu	GRCh37	17	39316492	39316492	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-4927-01	TCGA-76-4927-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000390661.3:c.452G>C	p.Cys151Ser	p.C151S	ENST00000390661	NM_032524.1	151	tGt/tCt	0			1			G	C/S	uc002hwc.2	protein_coding	YES	CCDS11383.1			452/501										0	c.(451-453)TGT>TCT			Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF43,hmmpanther:PTHR23262	keratin associated protein 4.4				ENSP00000375076		1-Jan	2.47E-05	0.000103				3.01E-05			rs749502434,COSM3402869	1-Jan	.		ENST00000390661	Transcript				keratin filament		ENSG00000171396	g.chr17:39316492C>G	16928			MODERATE		3.055	medium	getma.org/?cm=msa&ty=f&p=KRA44_HUMAN&rb=126&re=166&var=C151S	NA	getma.org/?cm=var&var=hg19,17,39316492,C,G&fts=all	C151S	--	--	1																																			0,1	1		unknown(0)	p.C151S	NM_032524	NP_115913			0,1	KRA44_HUMAN	KRTAP4-4	HGNC	Q9BYR3	KRA44_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)				1	492	-		Breast(137;0.000496)	UPI000006DEC1	151			26.|26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		SNV	KRTAP4-4,missense_variant,p.Cys151Ser,ENST00000390661,NM_032524.1;	uc002hwc.2	c.452G>C	492/1074	3	3			c.452G>C						17	SNP	c.(451-453)TGT>TCT	64	64				0	Broad	keratin associated protein 4.4			39316492		0.642	ENSG00000171396	8399	g.chr17:39316492C>G		keratin filament								74.862981	KEEP	21	17	-1	50	67	21	17	-1	82.635975	50	67	0.230769	1	0	0	0	0	1	0	0	0	--	--		0	G				267	GBM-76-4927-TP	p.C151S	C	CCTGGACACACAGCAGCTGGG	NM_032524	NP_115913	39316492	Q9BYR3	KRA44_HUMAN	0	STAD - Stomach adenocarcinoma(17;0.000449)		1	492	-	G	G		Breast(137;0.000496)	Missense_Mutation	151			26.|26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].			
KRTAP4-5	85289		GRCh37	17	39305619	39305619	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-28-2510-01	TCGA-28-2510-01																				ENST00000343246.4:c.401C>A	p.Ser134Tyr	p.S134Y	ENST00000343246	NM_033188.3	134	tCt/tAt	0																																																																																																																																																																																																																																												
KRTAP4-7	100132476		GRCh37	17	39240819	39240819	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000391417.4:c.361C>G	p.Leu121Val	p.L121V	ENST00000391417	NM_033061.3	121	Ctg/Gtg	0																																																																																																																																																																																																																																												
KRTAP4-7	100132476		GRCh37	17	39240900	39240900	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000391417.4:c.442T>G	p.Leu148Val	p.L148V	ENST00000391417	NM_033061.3	148	Ttg/Gtg	0																																																																																																																																																																																																																																												
KRTAP4-9	100132386		GRCh37	17	39261693	39261693	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000391415.1:c.53A>T	p.Asp18Val	p.D18V	ENST00000391415	NM_001146041.1	18	gAc/gTc	0																																																																																																																																																																																																																																												
KRTAP5-10	387273	broad.mit.edu	GRCh37	11	71277242	71277242	+	stop_lost	Nonstop_Mutation	SNP	A	A	G			TCGA-06-0141-01	TCGA-06-0141-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398531.1:c.609A>G	p.Ter203TrpextTer23	p.*203Wext*23	ENST00000398531	NM_001012710.1	203	tgA/tgG	0			1			G	*/W	uc001oqt.1	protein_coding	YES	CCDS41684.1			609/609									skin(1)	1	c.(607-609)TGA>TGG				keratin associated protein 5-10				ENSP00000381542		1-Jan									COSM3398113	1-Jan	.		ENST00000398531	Transcript				keratin filament		ENSG00000204572	g.chr11:71277242A>G	23605			HIGH								--	--	1																																			1	1			p.*203W	NM_001012710	NP_001012728			1	KR510_HUMAN	KRTAP5-10	HGNC	Q6L8G5	KR510_HUMAN					1	634	+			UPI0000376062	203					SNV	KRTAP5-10,stop_lost,p.Ter203TrpextTer23,ENST00000398531,NM_001012710.1;KRTAP5-10,intron_variant,,ENST00000376536,;AP000867.14,upstream_gene_variant,,ENST00000511464,;	uc001oqt.1	c.609A>G	634/1058	5	3			c.609A>G						11	SNP	c.(607-609)TGA>TGG	1	1			skin(1)	1	Broad	keratin associated protein 5-10			71277242		0.323	ENSG00000204572	8402	g.chr11:71277242A>G		keratin filament								-28.201476	KEEP	2	1	-1	84	70	2	1	-1	6.766804	84	70	0.021898	1	0	0	0	0	0	0	0	0	--	--		0	G				21	GBM-06-0141-TP	p.*203W	A	GTAAGATCTGAGGCTCTGAAC	NM_001012710	NP_001012728	71277242	Q6L8G5	KR510_HUMAN	0			1	634	+	G	G			Nonstop_Mutation	203						
KRTAP5-10	387273		GRCh37	11	71276821	71276910	+	inframe_deletion	In_Frame_Del	DEL	GCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG	GCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG	-			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000398531.1:c.218_307del	p.Asp73_Gly102del	p.D73_G102del	ENST00000398531	NM_001012710.1	63	aGCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGGgc/agc	0																																																																																																																																																																																																																																												
KRTAP5-11	0	broad.mit.edu	GRCh37	11	71293418	71293418	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-28-5218-01	TCGA-28-5218-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398530.1:c.466A>C	p.Ile156Leu	p.I156L	ENST00000398530	NM_001005405.2	156	Atc/Ctc	0			1			G	I/L	uc001oqu.2	protein_coding	YES	CCDS41685.1			466/471										0	c.(466-468)ATC>CTC				keratin associated protein 5-11				ENSP00000381541		1-Jan									COSM3398114	1-Jan	.		ENST00000398530	Transcript				keratin filament		ENSG00000204571	g.chr11:71293418T>G	23606			MODERATE		2.36	medium	getma.org/?cm=msa&ty=f&p=KR511_HUMAN&rb=126&re=156&var=I156L	NA	getma.org/?cm=var&var=hg19,11,71293418,T,G&fts=all	I156L	--	--	1																																			1	1		unknown(0)	p.I156L	NM_001005405	NP_001005405		deleterious_low_confidence(0.01)	1	KR511_HUMAN	KRTAP5-11	HGNC	Q6L8G4	KR511_HUMAN					1	504	-			UPI0000376063	156					SNV	KRTAP5-11,missense_variant,p.Ile156Leu,ENST00000398530,NM_001005405.2;AP000867.1,intron_variant,,ENST00000343767,;KRTAP5-11,intron_variant,,ENST00000526239,;KRTAP5-14P,upstream_gene_variant,,ENST00000502328,;	uc001oqu.2	c.466A>C	504/1021	3	3			c.466A>C						11	SNP	c.(466-468)ATC>CTC	59	59				0	Broad	keratin associated protein 5-11			71293418		0.308	ENSG00000204571	8403	g.chr11:71293418T>G		keratin filament								-38.020672	KEEP	2	2	-1	127	105	2	2	-1	7.166974	127	105	0.017442	1	0	0	0	0	1	0	0	0	--	--		0	G				224	GBM-28-5218-TP	p.I156L	T	GAGCCTCAGATCTTACACTGG	NM_001005405	NP_001005405	71293418	Q6L8G4	KR511_HUMAN	0			1	504	-	G	G			Missense_Mutation	156						
KRTAP5-3	0	broad.mit.edu	GRCh37	11	1629152	1629152	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-12-5295-01	TCGA-12-5295-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399685.1:c.464G>C	p.Cys155Ser	p.C155S	ENST00000399685	NM_001012708.2	155	tGc/tCc	0		G:0	1	G:0		G	C/S	uc001ltw.1	protein_coding	YES	CCDS41591.1			464/717									ovary(2)	2	c.(463-465)TGC>TCC			Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF16	keratin associated protein 5-3		G:0		ENSP00000382592	G:0	1-Jan	1.65E-05							0.000121	rs548851553,COSM1470493	1-Jan	.		ENST00000399685	Transcript		G:0.0002		keratin filament		ENSG00000196224	g.chr11:1629152C>G	23598			MODERATE		2.62	medium	getma.org/?cm=msa&ty=f&p=KRA53_HUMAN&rb=1&re=200&var=C155S	NA	getma.org/?cm=var&var=hg19,11,1629152,C,G&fts=all	C155S	--	--	1																																			0,1	1		unknown(0)	p.C155S	NM_001012708	NP_001012726	G:0.001	deleterious(0.02)	0,1	KRA53_HUMAN	KRTAP5-3	HGNC	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)			1	542	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	UPI000037605E	155			11 X 4 AA repeats of C-C-X-P.		SNV	KRTAP5-3,missense_variant,p.Cys155Ser,ENST00000399685,NM_001012708.2;	uc001ltw.1	c.464G>C	542/899	4	4			c.464G>C						11	SNP	c.(463-465)TGC>TCC	17	17			ovary(2)	2	Broad	keratin associated protein 5-3			1629152		0.388	ENSG00000196224	8405	g.chr11:1629152C>G		keratin filament								-57.963646	KEEP	1	4	-1	204	162	1	4	-1	10.341659	204	162	0.019011	1	0	0	0	0	1	0	0	0	--	--		0	G				129	GBM-12-5295-TP	p.C155S	C	GGACTGGGAGCAGCTGGGCTT	NM_001012708	NP_001012726	1629152	Q6L8H2	KRA53_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	542	-	G	G		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	Missense_Mutation	155			11 X 4 AA repeats of C-C-X-P.			
KRTAP5-3	0	broad.mit.edu	GRCh37	11	1629156	1629156	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs75371407		TCGA-12-5295-01	TCGA-12-5295-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399685.1:c.460A>T	p.Ser154Cys	p.S154C	ENST00000399685	NM_001012708.2	154	Agc/Tgc	0			1			A	S/C	uc001ltw.1	protein_coding	YES	CCDS41591.1			460/717									ovary(2)	2	c.(460-462)AGC>TGC			Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF16	keratin associated protein 5-3				ENSP00000382592		1-Jan	8.24E-06					1.50E-05			rs75371407,COSM3747868	1-Jan	.		ENST00000399685	Transcript				keratin filament		ENSG00000196224	g.chr11:1629156T>A	23598			MODERATE		-1.23	neutral	getma.org/?cm=msa&ty=f&p=KRA53_HUMAN&rb=1&re=200&var=S154C	NA	getma.org/?cm=var&var=hg19,11,1629156,T,A&fts=all	S154C	--	--	1																																			0,1	1		unknown(0)	p.S154C	NM_001012708	NP_001012726		tolerated(0.12)	0,1	KRA53_HUMAN	KRTAP5-3	HGNC	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)			1	538	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	UPI000037605E	154			11 X 4 AA repeats of C-C-X-P.		SNV	KRTAP5-3,missense_variant,p.Ser154Cys,ENST00000399685,NM_001012708.2;	uc001ltw.1	c.460A>T	538/899	1	1			c.460A>T						11	SNP	c.(460-462)AGC>TGC	61	61			ovary(2)	2	Broad	keratin associated protein 5-3			1629156		0.403	ENSG00000196224	8405	g.chr11:1629156T>A		keratin filament								-54.871412	KEEP	2	5	-1	210	172	2	5	-1	9.579411	210	172	0.023529	1	0	0	0	0	1	0	0	0	--	--		0	A				129	GBM-12-5295-TP	p.S154C	T	TGGGAGCAGCTGGGCTTGCAG	NM_001012708	NP_001012726	1629156	Q6L8H2	KRA53_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	538	-	A	A		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	Missense_Mutation	154			11 X 4 AA repeats of C-C-X-P.			
KRTAP5-8	0	broad.mit.edu	GRCh37	11	71249153	71249153	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398534.3:c.52G>A	p.Gly18Ser	p.G18S	ENST00000398534	NM_021046.2	18	Ggc/Agc	0		A:0	1	A:0		A	G/S	uc001oqr.1	protein_coding	YES	CCDS41683.1			52/564										0	c.(52-54)GGC>AGC			hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF24,Low_complexity_(Seg):seg	keratin associated protein 5-8		A:0		ENSP00000420723	A:0	1-Jan	0.000107			0.000116				0.000727	rs534156781,COSM3398112	1-Jan	common_variant		ENST00000398534	Transcript		A:0.0004		extracellular region|keratin filament	structural constituent of epidermis	ENSG00000241233	g.chr11:71249153G>A	23603			MODERATE		1.475	low	getma.org/?cm=msa&ty=f&p=KRA58_HUMAN&rb=1&re=185&var=G18S	NA	getma.org/?cm=var&var=hg19,11,71249153,G,A&fts=all	G18S	--	--	1																																			0,1	1		unknown(0)	p.G18S	NM_021046	NP_066384	A:0.002	tolerated_low_confidence(0.23)	0,1	KRA58_HUMAN	KRTAP5-8	HGNC	O75690	KRA58_HUMAN					1	83	+			UPI000013ECDA	18					SNV	KRTAP5-8,missense_variant,p.Gly18Ser,ENST00000398534,NM_021046.2;	uc001oqr.1	c.52G>A	83/1183	2	2			c.52G>A						11	SNP	c.(52-54)GGC>AGC	46	46				0	Broad	keratin associated protein 5-8			71249153		0.652	ENSG00000241233	8409	g.chr11:71249153G>A		extracellular region|keratin filament	structural constituent of epidermis							89.780156	KEEP	15	20	-1	43	36	15	20	-1	92.65079	43	36	0.32	1	0	0	0	0	1	0	0	0	--	--		0	A				177	GBM-19-5959-TP	p.G18S	G	TGGGGGCTGCGGCTCTGGCTG	NM_021046	NP_066384	71249153	O75690	KRA58_HUMAN	0			1	83	+	A	A			Missense_Mutation	18						
KRTAP5-9	0	broad.mit.edu	GRCh37	11	71260048	71260048	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-32-2638-01	TCGA-32-2638-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000528743.2:c.345T>C	p.Cys115=	p.C115=	ENST00000528743	NM_005553.3	115	tgT/tgC	0			1			C	C	uc001oqs.1	protein_coding	YES	CCDS53677.1			345/510										0	c.(343-345)TGT>TGC			Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF23,hmmpanther:PTHR23262	keratin associated protein 5-9				ENSP00000431443		1-Jan									COSM3747900	1-Jan	.		ENST00000528743	Transcript			epidermis development	keratin filament		ENSG00000254997	g.chr11:71260048T>C	23604			LOW								--	--	1																																			1	1			p.C115C	NM_005553	NP_005544			1	KRA59_HUMAN	KRTAP5-9	HGNC	P26371	KRA59_HUMAN					1	583	+			UPI000012E079	115			8 X 4 AA repeats of C-C-X-P.		SNV	KRTAP5-9,synonymous_variant,p.=,ENST00000528743,NM_005553.3;	uc001oqs.1	c.345T>C	583/1188	3	3			c.345T>C						11	SNP	c.(343-345)TGT>TGC	7	7				0	Broad	keratin associated protein 5-9			71260048		0.622	ENSG00000254997	8410	g.chr11:71260048T>C	epidermis development	keratin filament								223.489748	KEEP	38	40	-1	83	64	38	40	-1	228.651006	83	64	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	C				242	GBM-32-2638-TP	p.C115C	T	GTAAGCCCTGTTGCTCCTCCT	NM_005553	NP_005544	71260048	P26371	KRA59_HUMAN	0			1	583	+	C	C			Silent	115			8 X 4 AA repeats of C-C-X-P.			
KRTAP6-1	0	broad.mit.edu	GRCh37	21	31986055	31986055	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-19-2624-01	TCGA-19-2624-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329122.2:c.169T>A	p.Cys57Ser	p.C57S	ENST00000329122	NM_181602.1	57	Tgt/Agt	0			1			T	C/S	uc002yop.2	protein_coding	YES	CCDS13602.1			169/216										0	c.(169-171)TGT>AGT			Low_complexity_(Seg):seg,hmmpanther:PTHR31678:SF2,hmmpanther:PTHR31678	keratin associated protein 6-1				ENSP00000332690		1-Jan									COSM3405346	1-Jan	.		ENST00000329122	Transcript				cytosol|intermediate filament		ENSG00000184724	g.chr21:31986055A>T	18931			MODERATE								--	--	1																																		KRTAP20-1_uc011ade.1_5'Flank	1	1		unknown(0)	p.C57S	NM_181602	NP_853633			1	KRA61_HUMAN	KRTAP6-1	HGNC	Q3LI64	KRA61_HUMAN					1	169	-			UPI00001A9E58	57					SNV	KRTAP6-1,missense_variant,p.Cys57Ser,ENST00000329122,NM_181602.1;KRTAP20-1,upstream_gene_variant,,ENST00000334664,NM_181615.1;	uc002yop.2	c.169T>A	195/500	1	1			c.169T>A						21	SNP	c.(169-171)TGT>AGT	6	6				0	Broad	keratin associated protein 6-1			31986055		0.567	ENSG00000184724	8411	g.chr21:31986055A>T		cytosol|intermediate filament								67.846217	KEEP	13	20	-1	61	70	13	20	-1	79.147968	61	70	0.2	1	0	0	0	0	1	0	0	0	--	--		0	T			KRTAP20-1_uc011ade.1_5'Flank	164	GBM-19-2624-TP	p.C57S	A	CCATAGCCACAGAGGGAGCGG	NM_181602	NP_853633	31986055	Q3LI64	KRA61_HUMAN	0			1	169	-	T	T			Missense_Mutation	57						
KRTAP6-1	0	broad.mit.edu	GRCh37	21	31986020	31986020	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-28-1753-01	TCGA-28-1753-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329122.2:c.204C>A	p.Gly68=	p.G68=	ENST00000329122	NM_181602.1	68	ggC/ggA	0			1			T	G	uc002yop.2	protein_coding	YES	CCDS13602.1			204/216										0	c.(202-204)GGC>GGA			Low_complexity_(Seg):seg,hmmpanther:PTHR31678:SF2,hmmpanther:PTHR31678	keratin associated protein 6-1				ENSP00000332690		1-Jan									COSM3405345	1-Jan	.		ENST00000329122	Transcript				cytosol|intermediate filament		ENSG00000184724	g.chr21:31986020G>T	18931			LOW								--	--	1																																		KRTAP20-1_uc011ade.1_5'Flank	1	1			p.G68G	NM_181602	NP_853633			1	KRA61_HUMAN	KRTAP6-1	HGNC	Q3LI64	KRA61_HUMAN					1	204	-			UPI00001A9E58	68					SNV	KRTAP6-1,synonymous_variant,p.=,ENST00000329122,NM_181602.1;KRTAP20-1,upstream_gene_variant,,ENST00000334664,NM_181615.1;	uc002yop.2	c.204C>A	230/500	1	1			c.204C>A						21	SNP	c.(202-204)GGC>GGA	6	6				0	Broad	keratin associated protein 6-1			31986020		0.537	ENSG00000184724	8411	g.chr21:31986020G>T		cytosol|intermediate filament								-21.244885	KEEP	4	4	0.5	73	66	4	4	0.5	8.978561	73	66	0.038168	1	0	0	0	0	0	0	1	0	--	--		0	T			KRTAP20-1_uc011ade.1_5'Flank	207	GBM-28-1753-TP	p.G68G	G	AATAATAGTAGCCAGAGCCAG	NM_181602	NP_853633	31986020	Q3LI64	KRA61_HUMAN	0			1	204	-	T	T			Silent	68						
KRTAP6-1	0	broad.mit.edu	GRCh37	21	31986219	31986219	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs146113466		TCGA-32-2494-01	TCGA-32-2494-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329122.2:c.5G>A	p.Cys2Tyr	p.C2Y	ENST00000329122	NM_181602.1	2	tGt/tAt	0	T:0.0002		1			T	C/Y	uc002yop.2	protein_coding	YES	CCDS13602.1			5/216										0	c.(4-6)TGT>TAT			hmmpanther:PTHR31678:SF2,hmmpanther:PTHR31678	keratin associated protein 6-1			T:0	ENSP00000332690		1-Jan	8.24E-06	9.61E-05							rs146113466,COSM3405347	1-Jan	.		ENST00000329122	Transcript				cytosol|intermediate filament		ENSG00000184724	g.chr21:31986219C>T	18931			MODERATE								--	--	1																																		KRTAP20-1_uc011ade.1_5'Flank	0,1	1		unknown(0)	p.C2Y	NM_181602	NP_853633			0,1	KRA61_HUMAN	KRTAP6-1	HGNC	Q3LI64	KRA61_HUMAN					1	5	-			UPI00001A9E58	2					SNV	KRTAP6-1,missense_variant,p.Cys2Tyr,ENST00000329122,NM_181602.1;KRTAP20-1,upstream_gene_variant,,ENST00000334664,NM_181615.1;	uc002yop.2	c.5G>A	31/500	1	1			c.5G>A						21	SNP	c.(4-6)TGT>TAT	16	16				0	Broad	keratin associated protein 6-1			31986219		0.547	ENSG00000184724	8411	g.chr21:31986219C>T		cytosol|intermediate filament								-8.441878	KEEP	5	6	-1	75	73	5	6	-1	17.039528	75	73	0.068182	1	0	0	0	0	1	0	0	0	--	--		0	T			KRTAP20-1_uc011ade.1_5'Flank	236	GBM-32-2494-TP	p.C2Y	C	GTAGCTGCCACACATGGTGTT	NM_181602	NP_853633	31986219	Q3LI64	KRA61_HUMAN	0			1	5	-	T	T			Missense_Mutation	2						
KRTAP6-2	0	broad.mit.edu	GRCh37	21	31971188	31971188	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2495-01	TCGA-32-2495-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334897.3:c.6C>T	p.Cys2=	p.C2=	ENST00000334897	NM_181604.1	2	tgC/tgT	0	A:0	A:0	1	A:0		A	C	uc011adc.1	protein_coding	YES	CCDS13600.1			6/189										0	c.(4-6)TGC>TGT			hmmpanther:PTHR31678:SF3,hmmpanther:PTHR31678,Pfam_domain:PF11759	keratin associated protein 6-2		A:0.001	A:0.0003	ENSP00000334560	A:0	1-Jan	9.88E-05		0.000173	0.000579		7.51E-05			rs201729927,COSM478488	1-Jan	common_variant		ENST00000334897	Transcript		A:0.0002		intermediate filament		ENSG00000186930	g.chr21:31971188G>A	18932			LOW								--	--	1																																		KRTAP22-1_uc011add.1_5'Flank	0,1	1			p.C2C	NM_181604	NP_853635	A:0		0,1	KRA62_HUMAN	KRTAP6-2	HGNC	Q3LI66	KRA62_HUMAN					1	6	-			UPI00001A9E59	2					SNV	KRTAP6-2,synonymous_variant,p.=,ENST00000334897,NM_181604.1;KRTAP22-1,upstream_gene_variant,,ENST00000334680,NM_181620.1;	uc011adc.1	c.6C>T	32/311	2	2			c.6C>T						21	SNP	c.(4-6)TGC>TGT	21	21				0	Broad	keratin associated protein 6-2			31971188		0.483	ENSG00000186930	8412	g.chr21:31971188G>A		intermediate filament								130.110667	KEEP	33	32	-1	46	52	33	32	-1	131.368967	46	52	0.389831	1	0	0	0	0	0	0	1	0	--	--		0	A			KRTAP22-1_uc011add.1_5'Flank	237	GBM-32-2495-TP	p.C2C	G	AGTAGCTGCCGCACATCGTGA	NM_181604	NP_853635	31971188	Q3LI66	KRA62_HUMAN	0			1	6	-	A	A			Silent	2						
KRTDAP	0	broad.mit.edu	GRCh37	19	35979579	35979579	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-87-5896-01	TCGA-87-5896-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338897.3:c.153C>T	p.Ile51=	p.I51=	ENST00000338897	NM_207392.2	51	atC/atT	0	A:0.0002		1			A	I	uc002nzh.2	protein_coding	YES	CCDS12462.1			153/300										0	c.(151-153)ATC>ATT			Pfam_domain:PF15200	keratinocyte differentiation-associated protein			A:0	ENSP00000339251		6-Mar	8.24E-06	9.61E-05							rs376125312,COSM3404128	6-Mar	.		ENST00000338897	Transcript			cell differentiation	extracellular region		ENSG00000188508	g.chr19:35979579G>A	16313			LOW								--	--	1																																			0,1	1			p.I51I	NM_207392	NP_997275			0,1	KTDAP_HUMAN	KRTDAP	HGNC	P60985	KTDAP_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)				3	165	-	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		UPI0000035979	51					SNV	KRTDAP,synonymous_variant,p.=,ENST00000338897,NM_207392.2;KRTDAP,intron_variant,,ENST00000484218,NM_001244847.1;KRTDAP,non_coding_transcript_exon_variant,,ENST00000479340,;	uc002nzh.2	c.153C>T	242/491	2	2			c.153C>T						19	SNP	c.(151-153)ATC>ATT	17	17				0	Broad	keratinocyte differentiation-associated protein			35979579		0.512	ENSG00000188508	8422	g.chr19:35979579G>A	cell differentiation	extracellular region								99.922786	KEEP	23	22	-1	76	75	23	22	-1	110.444446	76	75	0.238095	1	0	0	0	0	0	0	1	0	--	--		0	A				291	GBM-87-5896-TP	p.I51I	G	GCAATTTGTCGATGTTCAGGA	NM_207392	NP_997275	35979579	P60985	KTDAP_HUMAN	0	LUSC - Lung squamous cell carcinoma(66;0.0724)		3	165	-	A	A	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		Silent	51						
KSR1	8844	broad.mit.edu	GRCh37	17	25909866	25909866	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01	TCGA-06-0214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398988.3:c.304C>T	p.Pro102Ser	p.P102S	ENST00000398988	NM_014238.1	102	Ccc/Tcc	0			1			T	P/S	uc010crg.2	protein_coding	YES	CCDS58532.1			304/2289									lung(3)|central_nervous_system(1)	4	c.(304-306)CCC>TCC				kinase suppressor of ras				ENSP00000381958		22-May									COSM3402678,COSM3402677	22-May	.		ENST00000398988	Transcript			Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	ENSG00000141068	g.chr17:25909866C>T	6465			MODERATE		0.955	low	getma.org/?cm=msa&ty=f&p=KSR1_HUMAN&rb=167&re=366&var=P237S	NA	getma.org/?cm=var&var=hg19,17,25909866,C,T&fts=all	P237S	--	--	1																																		KSR1_uc002gzj.1_Intron	1,1	1		benign(0.001)	p.P102S	NM_014238	NP_055053		tolerated(0.15)	1,1		KSR1	HGNC	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	J3QSG8_HUMAN,J3QR75_HUMAN,J3QKR8_HUMAN,H7BYU0_HUMAN		5	749	+	Lung NSC(42;0.00836)		UPI00005B2F0C	237					SNV	KSR1,missense_variant,p.Pro102Ser,ENST00000398988,NM_014238.1;KSR1,missense_variant,p.Pro239Ser,ENST00000319524,;KSR1,missense_variant,p.Pro102Ser,ENST00000268763,;KSR1,missense_variant,p.Pro239Ser,ENST00000509603,;KSR1,missense_variant,p.Pro102Ser,ENST00000583370,;KSR1,upstream_gene_variant,,ENST00000398982,;KSR1,downstream_gene_variant,,ENST00000580163,;KSR1,non_coding_transcript_exon_variant,,ENST00000582311,;KSR1,upstream_gene_variant,,ENST00000581975,;KSR1,upstream_gene_variant,,ENST00000580822,;KSR1,non_coding_transcript_exon_variant,,ENST00000579399,;KSR1,downstream_gene_variant,,ENST00000398985,;KSR1,upstream_gene_variant,,ENST00000577823,;	uc010crg.2	c.304C>T	749/7234	2	2			c.304C>T						17	SNP	c.(304-306)CCC>TCC	30	30			lung(3)|central_nervous_system(1)	4	Broad	kinase suppressor of ras			25909866		0.706	ENSG00000141068	8423	g.chr17:25909866C>T	Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	Esophageal Squamous(88;1120 1336 6324 10502 16832)		1488	Esophageal Squamous(88;1120 1336 6324 10502 16832)		1488	37.695108	KEEP	7	8	-1	15	14	7	8	-1	37.883232	15	14	0.413793	1	0	0	0	0	1	0	0	0	--	--		0	T			KSR1_uc002gzj.1_Intron	50	GBM-06-0214-TP	p.P102S	C	CTCAGACTCCCCCACCCCCAG	NM_014238	NP_055053	25909866	Q8IVT5	KSR1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	5	749	+	T	T	Lung NSC(42;0.00836)		Missense_Mutation	237						
KSR2	283455	broad.mit.edu	GRCh37	12	118298128	118298128	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0214-01	TCGA-06-0214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339824.5:c.289C>T	p.Arg97Ter	p.R97*	ENST00000339824		97	Cga/Tga	0			1			A	R/*	uc001two.2	protein_coding	YES				289/2853									lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	c.(202-204)CGA>TGA			Pfam_domain:PF13543	kinase suppressor of ras 2				ENSP00000339952		20-Feb									COSM2173749	20-Feb	.		ENST00000339824	Transcript			intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	ENSG00000171435	g.chr12:118298128G>A	18610			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,12,118298128,G,A&fts=all	R97*	--	--	1																																			1	1			p.R68*	NM_173598	NP_775869			1	KSR2_HUMAN	KSR2	HGNC	Q6VAB6	KSR2_HUMAN			E9PB13_HUMAN		2	257	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		UPI000152636C	97					SNV	KSR2,stop_gained,p.Arg68Ter,ENST00000425217,NM_173598.4;KSR2,stop_gained,p.Arg97Ter,ENST00000339824,;	uc001two.2	c.202C>T	1017/4429	5	1			c.202C>T						12	SNP	c.(202-204)CGA>TGA	56	56			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	Broad	kinase suppressor of ras 2			118298128		0.627	ENSG00000171435	8424	g.chr12:118298128G>A	intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity		p.R68*(SNU1-Tumor)	623		p.R68*(SNU1-Tumor)	623	52.524482	KEEP	11	12	-1	29	24	11	12	-1	55.433877	29	24	0.276923	1	0	0	0	0	0	1	0	0	--	--		0	A				50	GBM-06-0214-TP	p.R68*	G	TCGACGATTCGGAACCAGTGC	NM_173598	NP_775869	118298128	Q6VAB6	KSR2_HUMAN	0			2	257	-	A	A	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		Nonsense_Mutation	97						
KSR2	283455	broad.mit.edu	GRCh37	12	117977605	117977605	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-06-2567-01	TCGA-06-2567-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339824.5:c.1606del	p.Leu536SerfsTer61	p.L536Sfs*61	ENST00000339824		536	Ctc/tc	0			1			-	L/X	uc001two.2	protein_coding	YES				1606/2853									lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	c.(1519-1521)CTCfs			hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF376,Low_complexity_(Seg):seg	kinase suppressor of ras 2				ENSP00000339952		20-Oct									COSM1359142,COSM1359143	20-Oct	.		ENST00000339824	Transcript			intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	ENSG00000171435	g.chr12:117977605delG	18610			HIGH								--	--	1																																			1,1	1			p.L507fs	NM_173598	NP_775869			1,1	KSR2_HUMAN	KSR2	HGNC	Q6VAB6	KSR2_HUMAN			E9PB13_HUMAN		10	1574	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		UPI000152636C	536			Pro-rich.		deletion	KSR2,frameshift_variant,p.Leu507SerfsTer61,ENST00000425217,NM_173598.4;KSR2,frameshift_variant,p.Leu536SerfsTer61,ENST00000339824,;KSR2,frameshift_variant,p.Leu233SerfsTer61,ENST00000302438,;KSR2,non_coding_transcript_exon_variant,,ENST00000545002,;KSR2,non_coding_transcript_exon_variant,,ENST00000543793,;	uc001two.2	c.1519delC	2334/4429	5	5			c.1519delC						12	DEL	c.(1519-1521)CTCfs	21	21			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	Broad	kinase suppressor of ras 2			117977605		0.632	ENSG00000171435	8424	g.chr12:117977605delG	intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity		p.L507F(TE5-Tumor)	623		p.L507F(TE5-Tumor)	623														0.26	1	1	0	1	0	0	0	0	0	--	--		0	-				89	GBM-06-2567-TP	p.L507fs	G	CTAGGAGGGAGGGGGGGTGCT	NM_173598	NP_775869	117977605	Q6VAB6	KSR2_HUMAN	0			10	1574	-	-	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		Frame_Shift_Del	536			Pro-rich.			
KSR2	0	broad.mit.edu	GRCh37	12	118198971	118198971	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-16-0861-01	TCGA-16-0861-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339824.5:c.831G>A	p.Pro277=	p.P277=	ENST00000339824		277	ccG/ccA	0			1			T	P	uc001two.2	protein_coding	YES				831/2853									lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	c.(742-744)CCG>CCA			Low_complexity_(Seg):seg	kinase suppressor of ras 2				ENSP00000339952		20-Apr	8.28E-06							7.49E-05	rs752651619,COSM3398410	20-Apr	.		ENST00000339824	Transcript			intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	ENSG00000171435	g.chr12:118198971C>T	18610			LOW								--	--	1																																			0,1	1			p.P248P	NM_173598	NP_775869			0,1	KSR2_HUMAN	KSR2	HGNC	Q6VAB6	KSR2_HUMAN			E9PB13_HUMAN		4	799	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		UPI000152636C	277			Pro-rich.		SNV	KSR2,synonymous_variant,p.=,ENST00000425217,NM_173598.4;KSR2,synonymous_variant,p.=,ENST00000339824,;	uc001two.2	c.744G>A	1559/4429	2	2			c.744G>A						12	SNP	c.(742-744)CCG>CCA	36	36			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	Broad	kinase suppressor of ras 2			118198971		0.701	ENSG00000171435	8424	g.chr12:118198971C>T	intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			623			623	381.348212	KEEP	85	70	-1	135	80	85	70	-1	383.05225	135	80	0.420712	1	0	0	0	0	0	0	1	0	--	--		0	T				156	GBM-16-0861-TP	p.P248P	C	TCCTCATGGGCGGCGTGCCCG	NM_173598	NP_775869	118198971	Q6VAB6	KSR2_HUMAN	0			4	799	-	T	T	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		Silent	277			Pro-rich.			
KSR2	0	broad.mit.edu	GRCh37	12	118105354	118105354	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01	TCGA-28-2509-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339824.5:c.1096C>T	p.Arg366Cys	p.R366C	ENST00000339824		366	Cgc/Tgc	0	A:0.0002		1			A	R/C	uc001two.2	protein_coding	YES				1096/2853									lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	c.(1009-1011)CGC>TGC			hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF376,Low_complexity_(Seg):seg	kinase suppressor of ras 2			A:0.0001	ENSP00000339952		20-May	6.61E-05	0.000233	9.93E-05			8.21E-05			rs373055394,COSM240447,COSM3398409	20-May	.		ENST00000339824	Transcript			intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	ENSG00000171435	g.chr12:118105354G>A	18610			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=KSR2_HUMAN&rb=353&re=552&var=R366C	NA	getma.org/?cm=var&var=hg19,12,118105354,G,A&fts=all	R366C	--	--	1																																			0,1,1	1		possibly_damaging(0.854)	p.R337C	NM_173598	NP_775869		deleterious(0.01)	0,1,1	KSR2_HUMAN	KSR2	HGNC	Q6VAB6	KSR2_HUMAN			E9PB13_HUMAN		5	1064	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		UPI000152636C	366					SNV	KSR2,missense_variant,p.Arg337Cys,ENST00000425217,NM_173598.4;KSR2,missense_variant,p.Arg366Cys,ENST00000339824,;KSR2,missense_variant,p.Arg63Cys,ENST00000302438,;KSR2,non_coding_transcript_exon_variant,,ENST00000545002,;	uc001two.2	c.1009C>T	1824/4429	1	1			c.1009C>T						12	SNP	c.(1009-1011)CGC>TGC	61	61			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	Broad	kinase suppressor of ras 2			118105354		0.602	ENSG00000171435	8424	g.chr12:118105354G>A	intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			623			623	12.730791	KEEP	1	5	-1	19	9	1	5	-1	15.869197	19	9	0.181818	1	0	0	0	0	1	0	0	0	--	--		0	A				211	GBM-28-2509-TP	p.R337C	G	AAGAAGGAGCGGAGGGAGCGC	NM_173598	NP_775869	118105354	Q6VAB6	KSR2_HUMAN	0			5	1064	-	A	A	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		Missense_Mutation	366						
KSR2	0	broad.mit.edu	GRCh37	12	118198974	118198974	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2495-01	TCGA-32-2495-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339824.5:c.828G>A	p.Thr276=	p.T276=	ENST00000339824		276	acG/acA	0			1			T	T	uc001two.2	protein_coding	YES				828/2853									lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	c.(739-741)ACG>ACA			Low_complexity_(Seg):seg	kinase suppressor of ras 2				ENSP00000339952		20-Apr									COSM3398411	20-Apr	.		ENST00000339824	Transcript			intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	ENSG00000171435	g.chr12:118198974C>T	18610			LOW								--	--	1																																			1	1			p.T247T	NM_173598	NP_775869			1	KSR2_HUMAN	KSR2	HGNC	Q6VAB6	KSR2_HUMAN			E9PB13_HUMAN		4	796	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		UPI000152636C	276			Pro-rich.		SNV	KSR2,synonymous_variant,p.=,ENST00000425217,NM_173598.4;KSR2,synonymous_variant,p.=,ENST00000339824,;	uc001two.2	c.741G>A	1556/4429	2	2			c.741G>A						12	SNP	c.(739-741)ACG>ACA	21	21			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	Broad	kinase suppressor of ras 2			118198974		0.706	ENSG00000171435	8424	g.chr12:118198974C>T	intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			623			623	441.825561	KEEP	79	107	-1	133	139	79	107	-1	445.185986	133	139	0.397849	1	0	0	0	0	0	0	1	0	--	--		0	T				237	GBM-32-2495-TP	p.T247T	C	TCATGGGCGGCGTGCCCGGCG	NM_173598	NP_775869	118198974	Q6VAB6	KSR2_HUMAN	0			4	796	-	T	T	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		Silent	276			Pro-rich.			
KSR2	0	broad.mit.edu	GRCh37	12	117993076	117993076	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-32-4210-01	TCGA-32-4210-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339824.5:c.1416A>G	p.Thr472=	p.T472=	ENST00000339824		472	acA/acG	0			1			C	T	uc001two.2	protein_coding	YES				1416/2853									lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	c.(1327-1329)ACA>ACG			hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF376	kinase suppressor of ras 2				ENSP00000339952		20-Sep									rs554933143,COSM2173688,COSM2173689	20-Sep	.		ENST00000339824	Transcript			intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	ENSG00000171435	g.chr12:117993076T>C	18610			LOW								--	--	1																																			0,1,1	1			p.T443T	NM_173598	NP_775869			0,1,1	KSR2_HUMAN	KSR2	HGNC	Q6VAB6	KSR2_HUMAN			E9PB13_HUMAN		9	1384	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		UPI000152636C	472					SNV	KSR2,synonymous_variant,p.=,ENST00000425217,NM_173598.4;KSR2,synonymous_variant,p.=,ENST00000339824,;KSR2,synonymous_variant,p.=,ENST00000302438,;KSR2,non_coding_transcript_exon_variant,,ENST00000545002,;KSR2,upstream_gene_variant,,ENST00000543793,;	uc001two.2	c.1329A>G	2144/4429	3	3			c.1329A>G						12	SNP	c.(1327-1329)ACA>ACG	64	64			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	Broad	kinase suppressor of ras 2			117993076		0.478	ENSG00000171435	8424	g.chr12:117993076T>C	intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity		p.T443T(IGROV1-Tumor)	623		p.T443T(IGROV1-Tumor)	623	3.031124	KEEP	3	3	-1	29	27	3	3	-1	12.572925	29	27	0.089286	1	0	0	0	0	0	0	1	0	--	--		0	C				245	GBM-32-4210-TP	p.T443T	T	GAACGGACTCTGTCCGGACTA	NM_173598	NP_775869	117993076	Q6VAB6	KSR2_HUMAN	0			9	1384	-	C	C	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		Silent	472						
KSR2	283455		GRCh37	12	117993006	117993006	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000339824.5:c.1486C>G	p.Gln496Glu	p.Q496E	ENST00000339824		496	Cag/Gag	0																																																																																																																																																																																																																																												
KXD1	0	broad.mit.edu	GRCh37	19	18675766	18675766	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-1830-01	TCGA-27-1830-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222307.4:c.189C>T	p.Phe63=	p.F63=	ENST00000222307	NM_024069.3	63	ttC/ttT	0			1			T	F	uc002njo.2	protein_coding		CCDS12381.1			189/531										0	c.(187-189)TTC>TTT			Pfam_domain:PF10241,hmmpanther:PTHR13511,hmmpanther:PTHR13511:SF0	hypothetical protein LOC79036				ENSP00000222307		5-Mar									COSM3403962	5-Mar	.		ENST00000222307	Transcript					protein binding	ENSG00000105700	g.chr19:18675766C>T	28420			LOW								--	--	1																																		C19orf50_uc002njp.2_RNA|C19orf50_uc002njq.2_Silent_p.F63F	1				p.F63F	NM_024069	NP_076974			1	KXDL1_HUMAN	KXD1	HGNC	Q9BQD3	CS050_HUMAN			M0R228_HUMAN,M0QXP3_HUMAN,M0QXN9_HUMAN,M0QX74_HUMAN		3	331	+			UPI000013C7F8	63					SNV	KXD1,synonymous_variant,p.=,ENST00000602094,;KXD1,synonymous_variant,p.=,ENST00000540691,NM_001171948.1;KXD1,synonymous_variant,p.=,ENST00000539106,NM_001171949.1;KXD1,synonymous_variant,p.=,ENST00000222307,NM_024069.3;KXD1,synonymous_variant,p.=,ENST00000601630,;KXD1,synonymous_variant,p.=,ENST00000595073,;KXD1,synonymous_variant,p.=,ENST00000598830,;KXD1,synonymous_variant,p.=,ENST00000596785,;KXD1,synonymous_variant,p.=,ENST00000599319,;KXD1,synonymous_variant,p.=,ENST00000595870,;KXD1,synonymous_variant,p.=,ENST00000600372,;KXD1,synonymous_variant,p.=,ENST00000597438,;KXD1,synonymous_variant,p.=,ENST00000600099,;KXD1,synonymous_variant,p.=,ENST00000599000,;KXD1,downstream_gene_variant,,ENST00000596244,;AC005253.2,upstream_gene_variant,,ENST00000597411,;AC005253.4,downstream_gene_variant,,ENST00000593791,;KXD1,synonymous_variant,p.=,ENST00000600654,;	uc002njo.2	c.189C>T	337/1426	1	1			c.189C>T						19	SNP	c.(187-189)TTC>TTT	5	5				0	Broad	hypothetical protein LOC79036			18675766		0.582	ENSG00000105700	1890	g.chr19:18675766C>T			protein binding							-74.275512	KEEP	3	3	-1	174	225	3	3	-1	8.472106	174	225	0.016026	1	0	0	0	0	0	0	1	0	--	--		0	T			C19orf50_uc002njp.2_RNA|C19orf50_uc002njq.2_Silent_p.F63F	189	GBM-27-1830-TP	p.F63F	C	GCGAACGCTTCCTGCACCACA	NM_024069	NP_076974	18675766	Q9BQD3	CS050_HUMAN	0			3	331	+	T	T			Silent	63						
KYNU	0	broad.mit.edu	GRCh37	2	143713833	143713833	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-28-6450-01	TCGA-28-6450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264170.4:c.497C>A	p.Pro166His	p.P166H	ENST00000264170	NM_003937.2	166	cCt/cAt	0			1			A	P/H	uc002tvl.2	protein_coding	YES	CCDS2183.1			497/1398									skin(2)	2	c.(496-498)CCT>CAT			Gene3D:3.40.640.10,HAMAP:MF_01970,Pfam_domain:PF00266,PIRSF_domain:PIRSF038800,hmmpanther:PTHR14084,Superfamily_domains:SSF53383,TIGRFAM_domain:TIGR01814	kynureninase (L-kynurenine hydrolase) isoform a	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)			ENSP00000264170		14-Jun									COSM3406915,COSM3406916	14-Jun	.		ENST00000264170	Transcript	1		anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	ENSG00000115919	g.chr2:143713833C>A	6469			MODERATE		3.665	high	getma.org/?cm=msa&ty=f&p=KYNU_HUMAN&rb=69&re=405&var=P166H	getma.org/pdb.php?prot=KYNU_HUMAN&from=69&to=405&var=P166H	getma.org/?cm=var&var=hg19,2,143713833,C,A&fts=all	P166H	--	--	1																																		KYNU_uc002tvk.2_Missense_Mutation_p.P166H|KYNU_uc010fnm.2_Missense_Mutation_p.P166H	1,1	1		probably_damaging(0.991)	p.P166H	NM_003937	NP_003928		deleterious(0)	1,1	KYNU_HUMAN	KYNU	HGNC	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	Q53SY0_HUMAN,Q53SX6_HUMAN		6	627	+			UPI000012E176	166			Pyridoxal phosphate binding.		SNV	KYNU,missense_variant,p.Pro166His,ENST00000264170,NM_003937.2;KYNU,missense_variant,p.Pro166His,ENST00000409512,NM_001199241.1;KYNU,missense_variant,p.Pro166His,ENST00000375773,NM_001032998.1;KYNU,non_coding_transcript_exon_variant,,ENST00000460143,;KYNU,downstream_gene_variant,,ENST00000424385,;	uc002tvl.2	c.497C>A	755/1805	1	1			c.497C>A						2	SNP	c.(496-498)CCT>CAT	53	53			skin(2)	2	Broad	kynureninase (L-kynurenine hydrolase) isoform a		L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	143713833		0.343	ENSG00000115919	8429	g.chr2:143713833C>A	anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity							55.610385	KEEP	8	11	0.578947368	20	16	8	11	0.578947368	56.439455	20	16	0.365385	1	0	0	0	0	1	0	0	0	--	--		0	A			KYNU_uc002tvk.2_Missense_Mutation_p.P166H|KYNU_uc010fnm.2_Missense_Mutation_p.P166H	227	GBM-28-6450-TP	p.P166H	C	AAAGCCTTCCCTTCTGATCAT	NM_003937	NP_003928	143713833	Q16719	KYNU_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.072)	6	627	+	A	A			Missense_Mutation	166			Pyridoxal phosphate binding.			
L1CAM	3897	broad.mit.edu	GRCh37	X	153141260	153141260	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-5856-01	TCGA-06-5856-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370060.1:c.32T>G	p.Leu11Arg	p.L11R	ENST00000370060	NM_001278116.1	11	cTc/cGc	0			1			C	L/R	uc004fjb.2	protein_coding	YES	CCDS14733.1			32/3774									ovary(8)|central_nervous_system(1)	9	c.(31-33)CTC>CGC			Cleavage_site_(Signalp):SignalP-noTM	L1 cell adhesion molecule isoform 1 precursor				ENSP00000359077		29-Feb									COSM3406125	29-Feb	.		ENST00000370060	Transcript	1		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		ENSG00000198910	g.chrX:153141260A>C	6470			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=L1CAM_HUMAN&rb=1&re=33&var=L11R	NA	getma.org/?cm=var&var=hg19,X,153141260,A,C&fts=all	L11R	--	--	1																																OREG0003586	type=REGULATORY REGION|Gene=L1CAM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	L1CAM_uc004fjc.2_Missense_Mutation_p.L11R|L1CAM_uc010nuo.2_Missense_Mutation_p.L11R|L1CAM_uc004fje.1_Missense_Mutation_p.L11R	1	1		possibly_damaging(0.797)	p.L11R	NM_000425	NP_000416		deleterious_low_confidence(0)	1	L1CAM_HUMAN	L1CAM	HGNC	P32004	L1CAM_HUMAN			Q86SE4_HUMAN,Q7Z3Z9_HUMAN,Q7Z2J9_HUMAN,Q7Z2J8_HUMAN,Q7Z2J6_HUMAN,Q7Z2J0_HUMAN,Q7Z2I3_HUMAN,Q7Z2H2_HUMAN,Q7Z2F9_HUMAN,E9PHJ4_HUMAN,E7EPI4_HUMAN		1	140	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		UPI0000126E89	11					SNV	L1CAM,missense_variant,p.Leu11Arg,ENST00000370060,NM_001278116.1;L1CAM,missense_variant,p.Leu11Arg,ENST00000543994,;L1CAM,missense_variant,p.Leu11Arg,ENST00000370057,NM_024003.3,NM_000425.4;L1CAM,missense_variant,p.Leu11Arg,ENST00000538883,;L1CAM,missense_variant,p.Leu11Arg,ENST00000361981,NM_001143963.2;L1CAM,missense_variant,p.Leu11Arg,ENST00000370055,;L1CAM,missense_variant,p.Leu11Arg,ENST00000361699,;L1CAM,missense_variant,p.Leu11Arg,ENST00000439496,;L1CAM,missense_variant,p.Leu11Arg,ENST00000458029,;L1CAM,missense_variant,p.Leu11Arg,ENST00000407935,;L1CAM,missense_variant,p.Leu11Arg,ENST00000420165,;LCA10,upstream_gene_variant,,ENST00000452593,;LCA10,upstream_gene_variant,,ENST00000357566,;L1CAM,non_coding_transcript_exon_variant,,ENST00000464967,;L1CAM,non_coding_transcript_exon_variant,,ENST00000460553,;	uc004fjb.2	c.32T>G	222/5113	3	3			c.32T>G						23	SNP	c.(31-33)CTC>CGC	57	57			ovary(8)|central_nervous_system(1)	9	Broad	L1 cell adhesion molecule isoform 1 precursor			153141260		0.627	ENSG00000198910	8430	g.chrX:153141260A>C	axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane								64.133701	KEEP	11	11	-1	5	4	11	11	-1	64.926467	5	4	0.678571	1	0	0	0	0	1	0	0	0	--	--		0	C	OREG0003586	type=REGULATORY REGION|Gene=L1CAM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	L1CAM_uc004fjc.2_Missense_Mutation_p.L11R|L1CAM_uc010nuo.2_Missense_Mutation_p.L11R|L1CAM_uc004fje.1_Missense_Mutation_p.L11R	101	GBM-06-5856-TP	p.L11R	A	GCAGAGGAGGAGAGGCCACAC	NM_000425	NP_000416	153141260	P32004	L1CAM_HUMAN	0			1	140	-	C	C	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	11						
L1CAM	3897	broad.mit.edu	GRCh37	X	153130626	153130626	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01	TCGA-06-5859-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370060.1:c.2789C>T	p.Ser930Leu	p.S930L	ENST00000370060	NM_001278116.1	930	tCg/tTg	0			1			A	S/L	uc004fjb.2	protein_coding	YES	CCDS14733.1			2789/3774									ovary(8)|central_nervous_system(1)	9	c.(2788-2790)TCG>TTG			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF42,SMART_domains:SM00060,Superfamily_domains:SSF49265	L1 cell adhesion molecule isoform 1 precursor				ENSP00000359077		22/29									COSM3406124	22/29	.		ENST00000370060	Transcript	1		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		ENSG00000198910	g.chrX:153130626G>A	6470			MODERATE		2.325	medium	getma.org/?cm=msa&ty=f&p=L1CAM_HUMAN&rb=919&re=1004&var=S930L	getma.org/pdb.php?prot=L1CAM_HUMAN&from=919&to=1004&var=S930L	getma.org/?cm=var&var=hg19,X,153130626,G,A&fts=all	S930L	--	--	1																																		L1CAM_uc004fjc.2_Missense_Mutation_p.S930L|L1CAM_uc010nuo.2_Missense_Mutation_p.S925L	1	1		probably_damaging(0.964)	p.S930L	NM_000425	NP_000416		deleterious(0)	1	L1CAM_HUMAN	L1CAM	HGNC	P32004	L1CAM_HUMAN			Q86SE4_HUMAN,Q7Z3Z9_HUMAN,Q7Z2J9_HUMAN,Q7Z2J8_HUMAN,Q7Z2J6_HUMAN,Q7Z2J0_HUMAN,Q7Z2I3_HUMAN,Q7Z2H2_HUMAN,Q7Z2F9_HUMAN,E9PHJ4_HUMAN,E7EPI4_HUMAN		21	2897	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		UPI0000126E89	930			Extracellular (Potential).|Fibronectin type-III 4.		SNV	L1CAM,missense_variant,p.Ser930Leu,ENST00000370060,NM_001278116.1;L1CAM,missense_variant,p.Ser932Leu,ENST00000543994,;L1CAM,missense_variant,p.Ser930Leu,ENST00000370057,NM_024003.3,NM_000425.4;L1CAM,missense_variant,p.Ser932Leu,ENST00000538883,;L1CAM,missense_variant,p.Ser925Leu,ENST00000361981,NM_001143963.2;L1CAM,missense_variant,p.Ser925Leu,ENST00000370055,;L1CAM,missense_variant,p.Ser930Leu,ENST00000361699,;L1CAM,upstream_gene_variant,,ENST00000370058,;L1CAM,downstream_gene_variant,,ENST00000455590,;L1CAM,non_coding_transcript_exon_variant,,ENST00000474853,;L1CAM,upstream_gene_variant,,ENST00000491983,;L1CAM,downstream_gene_variant,,ENST00000496122,;L1CAM,downstream_gene_variant,,ENST00000484652,;	uc004fjb.2	c.2789C>T	2979/5113	2	2			c.2789C>T						23	SNP	c.(2788-2790)TCG>TTG	23	23			ovary(8)|central_nervous_system(1)	9	Broad	L1 cell adhesion molecule isoform 1 precursor			153130626		0.701	ENSG00000198910	8430	g.chrX:153130626G>A	axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane								55.377986	KEEP	9	9	-1	1	5	9	9	-1	56.566056	1	5	0.73913	1	0	0	0	0	1	0	0	0	--	--		0	A			L1CAM_uc004fjc.2_Missense_Mutation_p.S930L|L1CAM_uc010nuo.2_Missense_Mutation_p.S925L	103	GBM-06-5859-TP	p.S930L	G	GCTGGTGTTCGACTGGCACTC	NM_000425	NP_000416	153130626	P32004	L1CAM_HUMAN	0			21	2897	-	A	A	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	930			Extracellular (Potential).|Fibronectin type-III 4.			
L1CAM	0	broad.mit.edu	GRCh37	X	153137805	153137805	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370060.1:c.202C>T	p.Arg68Cys	p.R68C	ENST00000370060	NM_001278116.1	68	Cgc/Tgc	0			1			A	R/C	uc004fjb.2	protein_coding	YES	CCDS14733.1			202/3774									ovary(8)|central_nervous_system(1)	9	c.(202-204)CGC>TGC			Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF42,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	L1 cell adhesion molecule isoform 1 precursor				ENSP00000359077		29-May									COSM1466648	29-May	.		ENST00000370060	Transcript	1		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		ENSG00000198910	g.chrX:153137805G>A	6470			MODERATE		3.145	medium	getma.org/?cm=msa&ty=f&p=L1CAM_HUMAN&rb=34&re=132&var=R68C	getma.org/pdb.php?prot=L1CAM_HUMAN&from=34&to=132&var=R68C	getma.org/?cm=var&var=hg19,X,153137805,G,A&fts=all	R68C	--	--	1																																		L1CAM_uc004fjc.2_Missense_Mutation_p.R68C|L1CAM_uc010nuo.2_Missense_Mutation_p.R63C|L1CAM_uc004fjd.1_5'Flank|L1CAM_uc004fje.1_Missense_Mutation_p.R63C	1	1		probably_damaging(0.996)	p.R68C	NM_000425	NP_000416		deleterious(0)	1	L1CAM_HUMAN	L1CAM	HGNC	P32004	L1CAM_HUMAN			Q86SE4_HUMAN,Q7Z3Z9_HUMAN,Q7Z2J9_HUMAN,Q7Z2J8_HUMAN,Q7Z2J6_HUMAN,Q7Z2J0_HUMAN,Q7Z2I3_HUMAN,Q7Z2H2_HUMAN,Q7Z2F9_HUMAN,E9PHJ4_HUMAN,E7EPI4_HUMAN		4	310	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		UPI0000126E89	68			Extracellular (Potential).|Ig-like C2-type 1.		SNV	L1CAM,missense_variant,p.Arg68Cys,ENST00000370060,NM_001278116.1;L1CAM,missense_variant,p.Arg70Cys,ENST00000543994,;L1CAM,missense_variant,p.Arg68Cys,ENST00000370057,NM_024003.3,NM_000425.4;L1CAM,missense_variant,p.Arg70Cys,ENST00000538883,;L1CAM,missense_variant,p.Arg63Cys,ENST00000361981,NM_001143963.2;L1CAM,missense_variant,p.Arg63Cys,ENST00000370055,;L1CAM,missense_variant,p.Arg68Cys,ENST00000361699,;L1CAM,missense_variant,p.Arg68Cys,ENST00000439496,;L1CAM,missense_variant,p.Arg68Cys,ENST00000458029,;L1CAM,missense_variant,p.Arg63Cys,ENST00000407935,;L1CAM,missense_variant,p.Arg63Cys,ENST00000420165,;L1CAM,upstream_gene_variant,,ENST00000455590,;L1CAM,non_coding_transcript_exon_variant,,ENST00000464967,;L1CAM,upstream_gene_variant,,ENST00000496122,;L1CAM,downstream_gene_variant,,ENST00000460553,;L1CAM,upstream_gene_variant,,ENST00000484652,;	uc004fjb.2	c.202C>T	392/5113	1	1			c.202C>T						23	SNP	c.(202-204)CGC>TGC	59	59			ovary(8)|central_nervous_system(1)	9	Broad	L1 cell adhesion molecule isoform 1 precursor			153137805		0.637	ENSG00000198910	8430	g.chrX:153137805G>A	axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane								85.309698	KEEP	14	16	-1	25	28	14	16	-1	86.394734	25	28	0.369863	1	0	0	0	0	1	0	0	0	--	--		0	A			L1CAM_uc004fjc.2_Missense_Mutation_p.R68C|L1CAM_uc010nuo.2_Missense_Mutation_p.R63C|L1CAM_uc004fjd.1_5'Flank|L1CAM_uc004fje.1_Missense_Mutation_p.R63C	139	GBM-14-0817-TP	p.R68C	G	CTCGTCCAGCGGAACCTGTGG	NM_000425	NP_000416	153137805	P32004	L1CAM_HUMAN	0			4	310	-	A	A	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	68			Extracellular (Potential).|Ig-like C2-type 1.			
L1CAM	0	broad.mit.edu	GRCh37	X	153129351	153129351	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5955-01	TCGA-19-5955-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370060.1:c.3444C>T	p.Gly1148=	p.G1148=	ENST00000370060	NM_001278116.1	1148	ggC/ggT	0			1			A	G	uc004fjb.2	protein_coding	YES	CCDS14733.1			3444/3774									ovary(8)|central_nervous_system(1)	9	c.(3442-3444)GGC>GGT			Pfam_domain:PF13882,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF42	L1 cell adhesion molecule isoform 1 precursor				ENSP00000359077		26/29									rs201721767,COSM3406123	26/29	.		ENST00000370060	Transcript	1		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		ENSG00000198910	g.chrX:153129351G>A	6470			LOW								--	--	1																																		L1CAM_uc004fjc.2_Silent_p.G1148G|L1CAM_uc010nuo.2_Silent_p.G1143G	0,1	1			p.G1148G	NM_000425	NP_000416			0,1	L1CAM_HUMAN	L1CAM	HGNC	P32004	L1CAM_HUMAN			Q86SE4_HUMAN,Q7Z3Z9_HUMAN,Q7Z2J9_HUMAN,Q7Z2J8_HUMAN,Q7Z2J6_HUMAN,Q7Z2J0_HUMAN,Q7Z2I3_HUMAN,Q7Z2H2_HUMAN,Q7Z2F9_HUMAN,E9PHJ4_HUMAN,E7EPI4_HUMAN		25	3552	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		UPI0000126E89	1148			Cytoplasmic (Potential).		SNV	L1CAM,synonymous_variant,p.=,ENST00000370060,NM_001278116.1;L1CAM,synonymous_variant,p.=,ENST00000543994,;L1CAM,synonymous_variant,p.=,ENST00000370057,NM_024003.3,NM_000425.4;L1CAM,synonymous_variant,p.=,ENST00000538883,;L1CAM,synonymous_variant,p.=,ENST00000361981,NM_001143963.2;L1CAM,synonymous_variant,p.=,ENST00000370055,;L1CAM,synonymous_variant,p.=,ENST00000361699,;L1CAM,intron_variant,,ENST00000370058,;L1CAM,downstream_gene_variant,,ENST00000455590,;L1CAM,non_coding_transcript_exon_variant,,ENST00000491983,;L1CAM,downstream_gene_variant,,ENST00000474853,;L1CAM,downstream_gene_variant,,ENST00000496122,;L1CAM,downstream_gene_variant,,ENST00000484652,;	uc004fjb.2	c.3444C>T	3634/5113	2	2			c.3444C>T						23	SNP	c.(3442-3444)GGC>GGT	35	35			ovary(8)|central_nervous_system(1)	9	Broad	L1 cell adhesion molecule isoform 1 precursor			153129351		0.627	ENSG00000198910	8430	g.chrX:153129351G>A	axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane								6.65196	KEEP	2	4	-1	15	23	2	4	-1	12.386028	15	23	0.121951	1	0	0	0	0	0	0	1	0	--	--		0	A			L1CAM_uc004fjc.2_Silent_p.G1148G|L1CAM_uc010nuo.2_Silent_p.G1143G	175	GBM-19-5955-TP	p.G1148G	G	AGTATTTGCCGCCCTTGCTGC	NM_000425	NP_000416	153129351	P32004	L1CAM_HUMAN	0			25	3552	-	A	A	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		Silent	1148			Cytoplasmic (Potential).			
L1CAM	0	broad.mit.edu	GRCh37	X	153130576	153130576	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01	TCGA-28-5208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370060.1:c.2839G>A	p.Val947Met	p.V947M	ENST00000370060	NM_001278116.1	947	Gtg/Atg	0			1			T	V/M	uc004fjb.2	protein_coding	YES	CCDS14733.1			2839/3774								p.V947M(1)	ovary(8)|central_nervous_system(1)	9	c.(2839-2841)GTG>ATG			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF42,SMART_domains:SM00060,Superfamily_domains:SSF49265	L1 cell adhesion molecule isoform 1 precursor				ENSP00000359077		22/29									COSM77984	22/29	.		ENST00000370060	Transcript	1		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		ENSG00000198910	g.chrX:153130576C>T	6470			MODERATE		2.74	medium	getma.org/?cm=msa&ty=f&p=L1CAM_HUMAN&rb=919&re=1004&var=V947M	getma.org/pdb.php?prot=L1CAM_HUMAN&from=919&to=1004&var=V947M	getma.org/?cm=var&var=hg19,X,153130576,C,T&fts=all	V947M	--	--	1																																		L1CAM_uc004fjc.2_Missense_Mutation_p.V947M|L1CAM_uc010nuo.2_Missense_Mutation_p.V942M	1	1		probably_damaging(0.913)	p.V947M	NM_000425	NP_000416		deleterious(0.03)	1	L1CAM_HUMAN	L1CAM	HGNC	P32004	L1CAM_HUMAN			Q86SE4_HUMAN,Q7Z3Z9_HUMAN,Q7Z2J9_HUMAN,Q7Z2J8_HUMAN,Q7Z2J6_HUMAN,Q7Z2J0_HUMAN,Q7Z2I3_HUMAN,Q7Z2H2_HUMAN,Q7Z2F9_HUMAN,E9PHJ4_HUMAN,E7EPI4_HUMAN		21	2947	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		UPI0000126E89	947		Missing (in HSAS).	Extracellular (Potential).|Fibronectin type-III 4.		SNV	L1CAM,missense_variant,p.Val947Met,ENST00000370060,NM_001278116.1;L1CAM,missense_variant,p.Val949Met,ENST00000543994,;L1CAM,missense_variant,p.Val947Met,ENST00000370057,NM_024003.3,NM_000425.4;L1CAM,missense_variant,p.Val949Met,ENST00000538883,;L1CAM,missense_variant,p.Val942Met,ENST00000361981,NM_001143963.2;L1CAM,missense_variant,p.Val942Met,ENST00000370055,;L1CAM,missense_variant,p.Val947Met,ENST00000361699,;L1CAM,upstream_gene_variant,,ENST00000370058,;L1CAM,downstream_gene_variant,,ENST00000455590,;L1CAM,non_coding_transcript_exon_variant,,ENST00000474853,;L1CAM,upstream_gene_variant,,ENST00000491983,;L1CAM,downstream_gene_variant,,ENST00000496122,;L1CAM,downstream_gene_variant,,ENST00000484652,;	uc004fjb.2	c.2839G>A	3029/5113	2	2			c.2839G>A						23	SNP	c.(2839-2841)GTG>ATG	43	43		p.V947M(1)	ovary(8)|central_nervous_system(1)	9	Broad	L1 cell adhesion molecule isoform 1 precursor			153130576		0.716	ENSG00000198910	8430	g.chrX:153130576C>T	axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane								71.364281	KEEP	14	26	-1	6	0	14	26	-1	73.477119	6	0	0.785714	1	0	0	0	0	1	0	0	0	--	--		0	T			L1CAM_uc004fjc.2_Missense_Mutation_p.V947M|L1CAM_uc010nuo.2_Missense_Mutation_p.V942M	217	GBM-28-5208-TP	p.V947M	C	CCGGTGAGCACGCCGTTGTGG	NM_000425	NP_000416	153130576	P32004	L1CAM_HUMAN	0			21	2947	-	T	T	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	947		Missing (in HSAS).	Extracellular (Potential).|Fibronectin type-III 4.			
L3MBTL1	26013	broad.mit.edu	GRCh37	20	42168804	42168804	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0211-01	TCGA-06-0211-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000427442.2:c.2121T>A	p.Asp707Glu	p.D707E	ENST00000427442		707	gaT/gaA	0			1			A	D/E	uc010zwh.1	protein_coding	YES	CCDS46602.2			2121/2523										0	c.(2119-2121)GAT>GAA			hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF69	l(3)mbt-like isoform I				ENSP00000402107		20/22									COSM2150733,COSM2150732,COSM3405096,COSM2150731	20/22	.		ENST00000427442	Transcript			chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000185513	g.chr20:42168804T>A	15905			MODERATE		0.68	neutral	getma.org/?cm=msa&ty=f&p=LMBL1_HUMAN&rb=618&re=667&var=D639E	NA	getma.org/?cm=var&var=hg19,20,42168804,T,A&fts=all	D639E	--	--	1																																		L3MBTL_uc002xkl.2_Missense_Mutation_p.D639E|L3MBTL_uc002xkm.2_Missense_Mutation_p.D639E|L3MBTL_uc010ggl.2_Missense_Mutation_p.D644E|L3MBTL_uc002xkn.1_Missense_Mutation_p.D398E|L3MBTL_uc002xko.2_Missense_Mutation_p.D291E|L3MBTL_uc002xkp.2_Missense_Mutation_p.D27E|SGK2_uc002xkq.1_5'UTR	1,1,1,1	1		benign(0.012)	p.D707E	NM_015478	NP_056293		tolerated(0.39)	1,1,1,1	LMBL1_HUMAN	L3MBTL1	HGNC	Q9Y468	LMBL1_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		B0QYN5_HUMAN,B0QYN4_HUMAN		20	2167	+		Myeloproliferative disorder(115;0.00452)	UPI0001E18E26	639					SNV	L3MBTL1,missense_variant,p.Asp425Glu,ENST00000422861,;L3MBTL1,missense_variant,p.Asp639Glu,ENST00000444063,;L3MBTL1,missense_variant,p.Asp639Glu,ENST00000373135,NM_015478.6;L3MBTL1,missense_variant,p.Asp707Glu,ENST00000427442,;L3MBTL1,missense_variant,p.Asp707Glu,ENST00000418998,NM_032107.4;L3MBTL1,missense_variant,p.Asp644Glu,ENST00000373134,;L3MBTL1,non_coding_transcript_exon_variant,,ENST00000471977,;L3MBTL1,non_coding_transcript_exon_variant,,ENST00000373133,;L3MBTL1,non_coding_transcript_exon_variant,,ENST00000494117,;L3MBTL1,downstream_gene_variant,,ENST00000445228,;L3MBTL1,downstream_gene_variant,,ENST00000497347,;L3MBTL1,downstream_gene_variant,,ENST00000483547,;	uc010zwh.1	c.2121T>A	2280/3157	2	2			c.2121T>A						20	SNP	c.(2119-2121)GAT>GAA	32	32				0	Broad	l(3)mbt-like isoform I			42168804		0.612	ENSG00000185513	8433	g.chr20:42168804T>A	chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							126.253153	KEEP	26	18	-1	44	41	26	18	-1	127.815691	44	41	0.372727	1	0	0	0	0	1	0	0	0	--	--		0	A			L3MBTL_uc002xkl.2_Missense_Mutation_p.D639E|L3MBTL_uc002xkm.2_Missense_Mutation_p.D639E|L3MBTL_uc010ggl.2_Missense_Mutation_p.D644E|L3MBTL_uc002xkn.1_Missense_Mutation_p.D398E|L3MBTL_uc002xko.2_Missense_Mutation_p.D291E|L3MBTL_uc002xkp.2_Missense_Mutation_p.D27E|SGK2_uc002xkq.1_5'UTR	48	GBM-06-0211-TP	p.D707E	T	TCACGCCCGATGTCGTGCACC	NM_015478	NP_056293	42168804	Q9Y468	LMBL1_HUMAN	0	COAD - Colon adenocarcinoma(18;0.0031)		20	2167	+	A	A		Myeloproliferative disorder(115;0.00452)	Missense_Mutation	639						
L3MBTL1	26013	broad.mit.edu	GRCh37	20	42163558	42163558	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0241-01	TCGA-06-0241-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000427442.2:c.1736del	p.Gly579AspfsTer78	p.G579Dfs*78	ENST00000427442		579	Gga/ga	0			1			-	G/X	uc010zwh.1	protein_coding	YES	CCDS46602.2			1735/2523										0	c.(1735-1737)GGAfs			Gene3D:2.30.30.160,Pfam_domain:PF02820,PROSITE_profiles:PS51079,hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF69,SMART_domains:SM00561,Superfamily_domains:SSF63748	l(3)mbt-like isoform I				ENSP00000402107		16/22									COSM2151145,COSM2151144,COSM2151143	16/22	.		ENST00000427442	Transcript			chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000185513	g.chr20:42163558delG	15905	1		HIGH								--	--	1																																		L3MBTL_uc002xkl.2_Frame_Shift_Del_p.G511fs|L3MBTL_uc002xkm.2_Frame_Shift_Del_p.G511fs|L3MBTL_uc010ggl.2_Frame_Shift_Del_p.G511fs|L3MBTL_uc002xkn.1_Frame_Shift_Del_p.G270fs|L3MBTL_uc002xko.2_Frame_Shift_Del_p.G163fs	1,1,1	1			p.G579fs	NM_015478	NP_056293			1,1,1	LMBL1_HUMAN	L3MBTL1	HGNC	Q9Y468	LMBL1_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		B0QYN5_HUMAN,B0QYN4_HUMAN		16	1781	+		Myeloproliferative disorder(115;0.00452)	UPI0001E18E26	511			MBT 3.		deletion	L3MBTL1,frameshift_variant,p.Gly297AspfsTer78,ENST00000422861,;L3MBTL1,frameshift_variant,p.Gly511AspfsTer78,ENST00000444063,;L3MBTL1,frameshift_variant,p.Gly511AspfsTer78,ENST00000373135,NM_015478.6;L3MBTL1,frameshift_variant,p.Gly579AspfsTer78,ENST00000427442,;L3MBTL1,frameshift_variant,p.Gly579AspfsTer78,ENST00000418998,NM_032107.4;L3MBTL1,frameshift_variant,p.Gly511AspfsTer83,ENST00000373134,;L3MBTL1,3_prime_UTR_variant,,ENST00000445228,;L3MBTL1,non_coding_transcript_exon_variant,,ENST00000373133,;L3MBTL1,non_coding_transcript_exon_variant,,ENST00000497347,;L3MBTL1,non_coding_transcript_exon_variant,,ENST00000483547,;L3MBTL1,upstream_gene_variant,,ENST00000494117,;L3MBTL1,downstream_gene_variant,,ENST00000485334,;	uc010zwh.1	c.1735delG	1894/3157	5	5			c.1735delG						20	DEL	c.(1735-1737)GGAfs	49	49				0	Broad	l(3)mbt-like isoform I			42163558		0.557	ENSG00000185513	8433	g.chr20:42163558delG	chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding																				0.29	1	1	0	1	0	0	0	0	0	--	--		0	-			L3MBTL_uc002xkl.2_Frame_Shift_Del_p.G511fs|L3MBTL_uc002xkm.2_Frame_Shift_Del_p.G511fs|L3MBTL_uc010ggl.2_Frame_Shift_Del_p.G511fs|L3MBTL_uc002xkn.1_Frame_Shift_Del_p.G270fs|L3MBTL_uc002xko.2_Frame_Shift_Del_p.G163fs	57	GBM-06-0241-TP	p.G579fs	G	CTCCAAGACAGGACATCCCCT	NM_015478	NP_056293	42163558	Q9Y468	LMBL1_HUMAN	0	COAD - Colon adenocarcinoma(18;0.0031)		16	1781	+	-	-		Myeloproliferative disorder(115;0.00452)	Frame_Shift_Del	511			MBT 3.			
LACRT	0	broad.mit.edu	GRCh37	12	55025622	55025622	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C			TCGA-41-3393-01	TCGA-41-3393-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257867.4:c.255A>G	p.Lys85=	p.K85=	ENST00000257867	NM_033277.1	85	aaA/aaG	0			1			C	K	uc001sgi.1	protein_coding	YES	CCDS8883.1			255/417									central_nervous_system(1)	1	c.(253-255)AAA>AAG				lacritin precursor				ENSP00000257867		5-Apr									COSM3398863	5-Apr	.		ENST00000257867	Transcript			calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding	ENSG00000135413	g.chr12:55025622T>C	16430			LOW								--	--	1																																			1	1			p.K85K	NM_033277	NP_150593			1	LACRT_HUMAN	LACRT	HGNC	Q9GZZ8	LACRT_HUMAN					4	293	-			UPI0000038CCC	85					SNV	LACRT,splice_region_variant,p.=,ENST00000257867,NM_033277.1;LACRT,intron_variant,,ENST00000547511,;LACRT,intron_variant,,ENST00000546721,;LACRT,downstream_gene_variant,,ENST00000549816,;	uc001sgi.1	c.255A>G	309/551	3	3			c.255A>G						12	SNP	c.(253-255)AAA>AAG	8	8			central_nervous_system(1)	1	Broad	lacritin precursor			55025622		0.468	ENSG00000135413	8438	g.chr12:55025622T>C	calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding							285.095801	KEEP	43	47	-1	85	128	43	47	-1	294.95352	85	128	0.301075	1	0	0	0	0	0	0	1	0	--	--		0	C				255	GBM-41-3393-TP	p.K85K	T	CCACTATGGATTCTAATTTTG	NM_033277	NP_150593	55025622	Q9GZZ8	LACRT_HUMAN	0			4	293	-	C	C			Silent	85						
LACTB	114294	broad.mit.edu	GRCh37	15	63433763	63433763	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-5417-01	TCGA-06-5417-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261893.4:c.1403A>G	p.Glu468Gly	p.E468G	ENST00000261893	NM_032857.3	468	gAa/gGa	0			1			G	E/G	uc002alw.2	protein_coding	YES	CCDS10182.1			1403/1644										0	c.(1402-1404)GAA>GGA			Gene3D:3.40.710.10,Pfam_domain:PF00144,hmmpanther:PTHR22935,hmmpanther:PTHR22935:SF64,Superfamily_domains:SSF56601	lactamase, beta isoform a				ENSP00000261893		6-Jun									COSM2153270	6-Jun	.		ENST00000261893	Transcript				mitochondrion	hydrolase activity	ENSG00000103642	g.chr15:63433763A>G	16468			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=LACTB_HUMAN&rb=277&re=538&var=E468G	getma.org/pdb.php?prot=LACTB_HUMAN&from=277&to=538&var=E468G	getma.org/?cm=var&var=hg19,15,63433763,A,G&fts=all	E468G	--	--	1																																			1	1		possibly_damaging(0.901)	p.E468G	NM_032857	NP_116246		deleterious(0.01)	1	LACTB_HUMAN	LACTB	HGNC	P83111	LACTB_HUMAN			H0YNN5_HUMAN		6	1442	+			UPI000013D220	468					SNV	LACTB,missense_variant,p.Glu468Gly,ENST00000261893,NM_032857.3;RPS27L,intron_variant,,ENST00000559763,;LACTB,downstream_gene_variant,,ENST00000559782,;	uc002alw.2	c.1403A>G	1475/1972	3	3			c.1403A>G						15	SNP	c.(1402-1404)GAA>GGA	6	6				0	Broad	lactamase, beta isoform a			63433763		0.483	ENSG00000103642	8439	g.chr15:63433763A>G		mitochondrion	hydrolase activity	Melanoma(85;443 1381 6215 27308 35583)			Melanoma(85;443 1381 6215 27308 35583)			175.656825	KEEP	27	27	-1	35	29	27	27	-1	175.788331	35	29	0.462264	1	0	0	0	0	1	0	0	0	--	--		0	G				99	GBM-06-5417-TP	p.E468G	A	GGTGTTGTGGAAAGGAAACAA	NM_032857	NP_116246	63433763	P83111	LACTB_HUMAN	0			6	1442	+	G	G			Missense_Mutation	468						
LAIR1	3903	broad.mit.edu	GRCh37	19	54875933	54875933	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0130-01	TCGA-06-0130-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000391742.2:c.39C>T	p.Leu13=	p.L13=	ENST00000391742		13	ctC/ctT	0			1			A	L	uc002qfk.1	protein_coding	YES	CCDS12891.1			39/864									ovary(4)	4	c.(37-39)CTC>CTT			hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF12,Cleavage_site_(Signalp):SignalP-noTM	leukocyte-associated immunoglobulin-like				ENSP00000375622		10-Feb									COSM2149532	10-Feb	.		ENST00000391742	Transcript				integral to membrane|plasma membrane	protein binding|receptor activity	ENSG00000167613	g.chr19:54875933G>A	6477			LOW								--	--	1																																		LAIR1_uc002qfl.1_Silent_p.L13L|LAIR1_uc002qfm.1_Silent_p.L13L|LAIR1_uc002qfn.1_Silent_p.L13L|LAIR1_uc010yex.1_Silent_p.L7L|LAIR1_uc002qfo.2_Intron	1	1			p.L13L	NM_002287	NP_002278			1	LAIR1_HUMAN	LAIR1	HGNC	Q6GTX8	LAIR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0573)			2	349	-	Ovarian(34;0.19)		UPI000011A058	13					SNV	LAIR1,synonymous_variant,p.=,ENST00000434277,NM_002287.3;LAIR1,synonymous_variant,p.=,ENST00000391742,;LAIR1,synonymous_variant,p.=,ENST00000313038,;LAIR1,synonymous_variant,p.=,ENST00000348231,NM_021706.2;LAIR1,synonymous_variant,p.=,ENST00000474878,;LAIR1,synonymous_variant,p.=,ENST00000438193,;LAIR1,intron_variant,,ENST00000391743,;LAIR1,upstream_gene_variant,,ENST00000444687,;LAIR1,non_coding_transcript_exon_variant,,ENST00000463489,;LAIR1,non_coding_transcript_exon_variant,,ENST00000480122,;LAIR1,non_coding_transcript_exon_variant,,ENST00000484116,;LAIR1,non_coding_transcript_exon_variant,,ENST00000468656,;LAIR1,synonymous_variant,p.=,ENST00000418556,;LAIR1,synonymous_variant,p.=,ENST00000391741,;LAIR1,synonymous_variant,p.=,ENST00000436513,;LAIR1,synonymous_variant,p.=,ENST00000420483,;LAIR1,3_prime_UTR_variant,,ENST00000440716,;LAIR1,3_prime_UTR_variant,,ENST00000423853,;LAIR1,3_prime_UTR_variant,,ENST00000427131,;LAIR1,non_coding_transcript_exon_variant,,ENST00000467269,;LAIR1,upstream_gene_variant,,ENST00000498511,;LAIR1,downstream_gene_variant,,ENST00000596835,;	uc002qfk.1	c.39C>T	192/1610	1	1			c.39C>T						19	SNP	c.(37-39)CTC>CTT	58	58			ovary(4)	4	Broad	leukocyte-associated immunoglobulin-like			54875933		0.617	ENSG00000167613	8444	g.chr19:54875933G>A		integral to membrane|plasma membrane	protein binding|receptor activity							59.0805	KEEP	17	11	-1	41	44	17	11	-1	64.307424	41	44	0.25	1	0	0	0	0	0	0	1	0	--	--		0	A			LAIR1_uc002qfl.1_Silent_p.L13L|LAIR1_uc002qfm.1_Silent_p.L13L|LAIR1_uc002qfn.1_Silent_p.L13L|LAIR1_uc010yex.1_Silent_p.L7L|LAIR1_uc002qfo.2_Intron	16	GBM-06-0130-TP	p.L13L	G	GGGCCAGGCAGAGCACTGGAA	NM_002287	NP_002278	54875933	Q6GTX8	LAIR1_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0573)	2	349	-	A	A	Ovarian(34;0.19)		Silent	13						
LAIR1	3903		GRCh37	19	54872745	54872745	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000391742.2:c.142G>A	p.Val48Met	p.V48M	ENST00000391742		48	Gtg/Atg	0																																																																																																																																																																																																																																												
LAMA1	284217	broad.mit.edu	GRCh37	18	7023335	7023335	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0157-01	TCGA-06-0157-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389658.3:c.2529C>T	p.Gly843=	p.G843=	ENST00000389658	NM_005559.3	843	ggC/ggT	0			1			A	G	uc002knm.2	protein_coding	YES	CCDS32787.1			2529/9228									ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21	c.(2527-2529)GGC>GGT			Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF38,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196	laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)			ENSP00000374309		19/63									COSM2150038	19/63	.		ENST00000389658	Transcript	1		axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	ENSG00000101680	g.chr18:7023335G>A	6481			LOW								--	--	1																																		LAMA1_uc010wzj.1_Silent_p.G319G	1	1			p.G843G	NM_005559	NP_005550			1	LAMA1_HUMAN	LAMA1	HGNC	P25391	LAMA1_HUMAN			Q7Z5W6_HUMAN,Q6P6D3_HUMAN		19	2623	-		Colorectal(10;0.172)	UPI00001C1FF9	843			Laminin EGF-like 7.		SNV	LAMA1,synonymous_variant,p.=,ENST00000389658,NM_005559.3;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;	uc002knm.2	c.2529C>T	2623/9657	2	2			c.2529C>T						18	SNP	c.(2527-2529)GGC>GGT	36	36			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21	Broad	laminin, alpha 1 precursor		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	7023335		0.527	ENSG00000101680	8447	g.chr18:7023335G>A	axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			1597			1597	140.622221	KEEP	27	28	-1	32	29	27	28	-1	140.64353	32	29	0.516484	1	0	0	0	0	0	0	1	0	--	--		0	A			LAMA1_uc010wzj.1_Silent_p.G319G	28	GBM-06-0157-TP	p.G843G	G	CACAAGATTCGCCAGGCACTG	NM_005559	NP_005550	7023335	P25391	LAMA1_HUMAN	0			19	2623	-	A	A		Colorectal(10;0.172)	Silent	843			Laminin EGF-like 7.			
LAMA1	284217	broad.mit.edu	GRCh37	18	7037694	7037694	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0744-01	TCGA-06-0744-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389658.3:c.1620G>A	p.Pro540=	p.P540=	ENST00000389658	NM_005559.3	540	ccG/ccA	0			1			T	P	uc002knm.2	protein_coding	YES	CCDS32787.1			1620/9228									ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21	c.(1618-1620)CCG>CCA			PROSITE_profiles:PS51115,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF38	laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)			ENSP00000374309		Dec-63	4.12E-05	9.61E-05				5.99E-05			rs765638301,COSM2151660	Dec-63	.		ENST00000389658	Transcript	1		axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	ENSG00000101680	g.chr18:7037694C>T	6481			LOW								--	--	1																																		LAMA1_uc010wzj.1_Silent_p.P16P	0,1	1			p.P540P	NM_005559	NP_005550			0,1	LAMA1_HUMAN	LAMA1	HGNC	P25391	LAMA1_HUMAN			Q7Z5W6_HUMAN,Q6P6D3_HUMAN		12	1714	-		Colorectal(10;0.172)	UPI00001C1FF9	540			Laminin IV type A 1.		SNV	LAMA1,synonymous_variant,p.=,ENST00000389658,NM_005559.3;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;LAMA1,downstream_gene_variant,,ENST00000585178,;	uc002knm.2	c.1620G>A	1714/9657	1	1			c.1620G>A						18	SNP	c.(1618-1620)CCG>CCA	7	7			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21	Broad	laminin, alpha 1 precursor		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	7037694		0.507	ENSG00000101680	8447	g.chr18:7037694C>T	axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			1597			1597	133.452629	KEEP	25	19	-1	21	24	25	19	-1	133.45532	21	24	0.506024	1	0	0	0	0	0	0	1	0	--	--		0	T			LAMA1_uc010wzj.1_Silent_p.P16P	66	GBM-06-0744-TP	p.P540P	C	CTTGCTGAGACGGGATCTTCC	NM_005559	NP_005550	7037694	P25391	LAMA1_HUMAN	0			12	1714	-	T	T		Colorectal(10;0.172)	Silent	540			Laminin IV type A 1.			
LAMA1	0	broad.mit.edu	GRCh37	18	6985300	6985300	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-6450-01	TCGA-28-6450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389658.3:c.5596G>A	p.Asp1866Asn	p.D1866N	ENST00000389658	NM_005559.3	1866	Gac/Aac	0			1			T	D/N	uc002knm.2	protein_coding	YES	CCDS32787.1			5596/9228									ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21	c.(5596-5598)GAC>AAC			hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF38	laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)			ENSP00000374309		39/63	1.65E-05				0.000151			6.06E-05	rs768494041,COSM989799	39/63	.		ENST00000389658	Transcript	1		axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	ENSG00000101680	g.chr18:6985300C>T	6481			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=LAMA1_HUMAN&rb=1832&re=2010&var=D1866N	NA	getma.org/?cm=var&var=hg19,18,6985300,C,T&fts=all	D1866N	--	--	1																																		LAMA1_uc010wzj.1_Missense_Mutation_p.D1342N	0,1	1		benign(0.033)	p.D1866N	NM_005559	NP_005550		tolerated(0.13)	0,1	LAMA1_HUMAN	LAMA1	HGNC	P25391	LAMA1_HUMAN			Q7Z5W6_HUMAN,Q6P6D3_HUMAN		39	5690	-		Colorectal(10;0.172)	UPI00001C1FF9	1866			Domain II and I.		SNV	LAMA1,missense_variant,p.Asp1866Asn,ENST00000389658,NM_005559.3;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;	uc002knm.2	c.5596G>A	5690/9657	2	2			c.5596G>A						18	SNP	c.(5596-5598)GAC>AAC	35	35			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21	Broad	laminin, alpha 1 precursor		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	6985300		0.507	ENSG00000101680	8447	g.chr18:6985300C>T	axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			1597			1597	116.558324	KEEP	23	23	-1	54	70	23	23	-1	123.154852	54	70	0.281046	1	0	0	0	0	1	0	0	0	--	--		0	T			LAMA1_uc010wzj.1_Missense_Mutation_p.D1342N	227	GBM-28-6450-TP	p.D1866N	C	TAGACCAGGTCGACTGCGTTC	NM_005559	NP_005550	6985300	P25391	LAMA1_HUMAN	0			39	5690	-	T	T		Colorectal(10;0.172)	Missense_Mutation	1866			Domain II and I.			
LAMA1	0	broad.mit.edu	GRCh37	18	7036079	7036079	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389658.3:c.1746G>A	p.Ala582=	p.A582=	ENST00000389658	NM_005559.3	582	gcG/gcA	0	T:0		1			T	A	uc002knm.2	protein_coding	YES	CCDS32787.1			1746/9228									ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21	c.(1744-1746)GCG>GCA			Pfam_domain:PF00052,PROSITE_profiles:PS51115,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF38,SMART_domains:SM00281	laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)		T:0.0001	ENSP00000374309		13/63	2.47E-05					3.00E-05		6.13E-05	rs368609998,COSM2157355	13/63	.		ENST00000389658	Transcript	1		axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	ENSG00000101680	g.chr18:7036079C>T	6481			LOW								--	--	1																																		LAMA1_uc010wzj.1_Silent_p.A58A	0,1	1			p.A582A	NM_005559	NP_005550			0,1	LAMA1_HUMAN	LAMA1	HGNC	P25391	LAMA1_HUMAN			Q7Z5W6_HUMAN,Q6P6D3_HUMAN		13	1840	-		Colorectal(10;0.172)	UPI00001C1FF9	582			Laminin IV type A 1.		SNV	LAMA1,synonymous_variant,p.=,ENST00000389658,NM_005559.3;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;LAMA1,downstream_gene_variant,,ENST00000585178,;	uc002knm.2	c.1746G>A	1840/9657	1	1			c.1746G>A						18	SNP	c.(1744-1746)GCG>GCA	9	9			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21	Broad	laminin, alpha 1 precursor		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	7036079		0.463	ENSG00000101680	8447	g.chr18:7036079C>T	axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			1597			1597	49.51151	KEEP	5	16	-1	23	35	5	16	-1	53.128469	23	35	0.263889	1	0	0	0	0	0	0	1	0	--	--		0	T			LAMA1_uc010wzj.1_Silent_p.A58A	246	GBM-32-4211-TP	p.A582A	C	ATCCGCCAAACGCAGTCAGCT	NM_005559	NP_005550	7036079	P25391	LAMA1_HUMAN	0			13	1840	-	T	T		Colorectal(10;0.172)	Silent	582			Laminin IV type A 1.			
LAMA1	0	broad.mit.edu	GRCh37	18	7034562	7034562	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01	TCGA-41-2572-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389658.3:c.1967G>A	p.Arg656His	p.R656H	ENST00000389658	NM_005559.3	656	cGt/cAt	0		T:0	1	T:0		T	R/H	uc002knm.2	protein_coding	YES	CCDS32787.1			1967/9228									ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21	c.(1966-1968)CGT>CAT			Pfam_domain:PF00052,PROSITE_profiles:PS51115,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF38,SMART_domains:SM00281	laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	T:0		ENSP00000374309	T:0	14/63	5.77E-05			0.000116		3.00E-05		0.000242	rs556604476,COSM989824	14/63	.		ENST00000389658	Transcript	1	T:0.0002	axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	ENSG00000101680	g.chr18:7034562C>T	6481			MODERATE		3.04	medium	getma.org/?cm=msa&ty=f&p=LAMA1_HUMAN&rb=568&re=707&var=R656H	NA	getma.org/?cm=var&var=hg19,18,7034562,C,T&fts=all	R656H	--	--	1																																		LAMA1_uc010wzj.1_Missense_Mutation_p.R132H	0,1	1		probably_damaging(0.999)	p.R656H	NM_005559	NP_005550	T:0.001	deleterious(0)	0,1	LAMA1_HUMAN	LAMA1	HGNC	P25391	LAMA1_HUMAN			Q7Z5W6_HUMAN,Q6P6D3_HUMAN		14	2061	-		Colorectal(10;0.172)	UPI00001C1FF9	656			Laminin IV type A 1.		SNV	LAMA1,missense_variant,p.Arg656His,ENST00000389658,NM_005559.3;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;LAMA1,downstream_gene_variant,,ENST00000585178,;	uc002knm.2	c.1967G>A	2061/9657	1	1			c.1967G>A						18	SNP	c.(1966-1968)CGT>CAT	6	6			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21	Broad	laminin, alpha 1 precursor		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	7034562		0.423	ENSG00000101680	8447	g.chr18:7034562C>T	axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			1597			1597	234.465792	KEEP	38	46	-1	59	70	38	46	-1	235.696961	59	70	0.414508	1	0	0	0	0	1	0	0	0	--	--		0	T			LAMA1_uc010wzj.1_Missense_Mutation_p.R132H	251	GBM-41-2572-TP	p.R656H	C	CAGCTGGTCACGATCAATCTG	NM_005559	NP_005550	7034562	P25391	LAMA1_HUMAN	0			14	2061	-	T	T		Colorectal(10;0.172)	Missense_Mutation	656			Laminin IV type A 1.			
LAMA1	284217		GRCh37	18	7011448	7011448	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000389658.3:c.3538C>T	p.Arg1180Cys	p.R1180C	ENST00000389658	NM_005559.3	1180	Cgt/Tgt	0																																																																																																																																																																																																																																												
LAMA1	284217		GRCh37	18	6956660	6956660	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000389658.3:c.8069T>A	p.Leu2690His	p.L2690H	ENST00000389658	NM_005559.3	2690	cTc/cAc	0																																																																																																																																																																																																																																												
LAMA1	284217		GRCh37	18	7009321	7009321	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000389658.3:c.3918G>A	p.Thr1306=	p.T1306=	ENST00000389658	NM_005559.3	1306	acG/acA	0																																																																																																																																																																																																																																												
LAMA2	3908	broad.mit.edu	GRCh37	6	129371087	129371087	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-02-0047-01	TCGA-02-0047-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000421865.2:c.137T>A	p.Leu46His	p.L46H	ENST00000421865	NM_001079823.1	46	cTt/cAt	0			1			A	L/H	uc003qbn.2	protein_coding	YES	CCDS5138.1			137/9369									ovary(8)|breast(1)|skin(1)	10	c.(136-138)CTT>CAT			Pfam_domain:PF00055,PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF106,SMART_domains:SM00136	laminin alpha 2 subunit isoform a precursor				ENSP00000400365		Feb-65									COSM2148993	Feb-65	.		ENST00000421865	Transcript	1		cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	ENSG00000196569	g.chr6:129371087T>A	6482			MODERATE		3.59	high	getma.org/?cm=msa&ty=f&p=LAMA2_HUMAN&rb=39&re=285&var=L46H	getma.org/pdb.php?prot=LAMA2_HUMAN&from=39&to=285&var=L46H	getma.org/?cm=var&var=hg19,6,129371087,T,A&fts=all	L46H	--	--	1																																		LAMA2_uc003qbo.2_Missense_Mutation_p.L46H	1	1		probably_damaging(1)	p.L46H	NM_000426	NP_000417		deleterious(0)	1	LAMA2_HUMAN	LAMA2	HGNC	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	Q59H37_HUMAN		2	242	+			UPI00003673E0	46			Laminin N-terminal.		SNV	LAMA2,missense_variant,p.Leu46His,ENST00000421865,NM_001079823.1,NM_000426.3;LAMA2,non_coding_transcript_exon_variant,,ENST00000466230,;	uc003qbn.2	c.137T>A	186/9640	1	1			c.137T>A						6	SNP	c.(136-138)CTT>CAT	63	63			ovary(8)|breast(1)|skin(1)	10	Broad	laminin alpha 2 subunit isoform a precursor			129371087		0.403	ENSG00000196569	8448	g.chr6:129371087T>A	cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity							141.200988	KEEP	30	26	-1	65	45	30	26	-1	144.523757	65	45	0.340136	1	0	0	0	0	1	0	0	0	--	--		0	A			LAMA2_uc003qbo.2_Missense_Mutation_p.L46H	3	GBM-02-0047-TP	p.L46H	T	GTCCTGAATCTTGCTTCTAAT	NM_000426	NP_000417	129371087	P24043	LAMA2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	2	242	+	A	A			Missense_Mutation	46			Laminin N-terminal.			
LAMA2	3908	broad.mit.edu	GRCh37	6	129371228	129371228	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000421865.2:c.278C>T	p.Pro93Leu	p.P93L	ENST00000421865	NM_001079823.1	93	cCa/cTa	0			1			T	P/L	uc003qbn.2	protein_coding	YES	CCDS5138.1			278/9369									ovary(8)|breast(1)|skin(1)	10	c.(277-279)CCA>CTA			Gene3D:2.60.120.260,Pfam_domain:PF00055,PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF106,SMART_domains:SM00136	laminin alpha 2 subunit isoform a precursor				ENSP00000400365		Feb-65									COSM2149743	Feb-65	.		ENST00000421865	Transcript	1		cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	ENSG00000196569	g.chr6:129371228C>T	6482			MODERATE		2.21	medium	getma.org/?cm=msa&ty=f&p=LAMA2_HUMAN&rb=39&re=285&var=P93L	getma.org/pdb.php?prot=LAMA2_HUMAN&from=39&to=285&var=P93L	getma.org/?cm=var&var=hg19,6,129371228,C,T&fts=all	P93L	--	--	1																																		LAMA2_uc003qbo.2_Missense_Mutation_p.P93L	1	1		benign(0.098)	p.P93L	NM_000426	NP_000417		deleterious(0.03)	1	LAMA2_HUMAN	LAMA2	HGNC	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	Q59H37_HUMAN		2	383	+			UPI00003673E0	93			Laminin N-terminal.		SNV	LAMA2,missense_variant,p.Pro93Leu,ENST00000421865,NM_001079823.1,NM_000426.3;LAMA2,downstream_gene_variant,,ENST00000466230,;	uc003qbn.2	c.278C>T	327/9640	1	1			c.278C>T						6	SNP	c.(277-279)CCA>CTA	7	7			ovary(8)|breast(1)|skin(1)	10	Broad	laminin alpha 2 subunit isoform a precursor			129371228		0.438	ENSG00000196569	8448	g.chr6:129371228C>T	cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity							42.548631	KEEP	14	4	-1	24	20	14	4	-1	44.625173	24	20	0.298246	1	0	0	0	0	1	0	0	0	--	--		0	T			LAMA2_uc003qbo.2_Missense_Mutation_p.P93L	23	GBM-06-0145-TP	p.P93L	C	AGCAGCAATCCAAACCGTATG	NM_000426	NP_000417	129371228	P24043	LAMA2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	2	383	+	T	T			Missense_Mutation	93			Laminin N-terminal.			
LAMA2	0	broad.mit.edu	GRCh37	6	129823804	129823804	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0781-01	TCGA-14-0781-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000421865.2:c.8245G>A	p.Gly2749Ser	p.G2749S	ENST00000421865	NM_001079823.1	2749	Ggt/Agt	0			1			A	G/S	uc003qbn.2	protein_coding	YES	CCDS5138.1			8245/9369									ovary(8)|breast(1)|skin(1)	10	c.(8245-8247)GGT>AGT			hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF106	laminin alpha 2 subunit isoform a precursor				ENSP00000400365		59/65									COSM3410587	59/65	.		ENST00000421865	Transcript	1		cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	ENSG00000196569	g.chr6:129823804G>A	6482			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=LAMA2_HUMAN&rb=2696&re=2792&var=G2749S	getma.org/pdb.php?prot=LAMA2_HUMAN&from=2696&to=2792&var=G2749S	getma.org/?cm=var&var=hg19,6,129823804,G,A&fts=all	G2749S	--	--	1																																		LAMA2_uc003qbo.2_Missense_Mutation_p.G2745S|uc003qbq.2_RNA	1	1		benign(0.035)	p.G2749S	NM_000426	NP_000417		tolerated(0.27)	1	LAMA2_HUMAN	LAMA2	HGNC	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	Q59H37_HUMAN		58	8350	+			UPI00003673E0	2749					SNV	LAMA2,missense_variant,p.Gly2749Ser,ENST00000421865,NM_001079823.1,NM_000426.3;LAMA2,splice_region_variant,,ENST00000498257,;	uc003qbn.2	c.8245G>A	8294/9640	1	1			c.8245G>A						6	SNP	c.(8245-8247)GGT>AGT	64	64			ovary(8)|breast(1)|skin(1)	10	Broad	laminin alpha 2 subunit isoform a precursor			129823804		0.388	ENSG00000196569	8448	g.chr6:129823804G>A	cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity							-0.107013	KEEP	1	2	-1	24	15	1	2	-1	6.77532	24	15	0.078947	1	0	0	0	0	1	0	0	0	--	--		0	A			LAMA2_uc003qbo.2_Missense_Mutation_p.G2745S|uc003qbq.2_RNA	133	GBM-14-0781-TP	p.G2749S	G	TATTTTACAGGGTCCTTGTGC	NM_000426	NP_000417	129823804	P24043	LAMA2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	58	8350	+	A	A			Missense_Mutation	2749						
LAMA2	0	broad.mit.edu	GRCh37	6	129663557	129663557	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-27-2521-01	TCGA-27-2521-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000421865.2:c.4381G>T	p.Gly1461Ter	p.G1461*	ENST00000421865	NM_001079823.1	1461	Gga/Tga	0			1			T	G/*	uc003qbn.2	protein_coding	YES	CCDS5138.1			4381/9369									ovary(8)|breast(1)|skin(1)	10	c.(4381-4383)GGA>TGA			Pfam_domain:PF00053,PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF106,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196	laminin alpha 2 subunit isoform a precursor				ENSP00000400365		30/65									COSM3410583	30/65	.		ENST00000421865	Transcript	1		cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	ENSG00000196569	g.chr6:129663557G>T	6482			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,6,129663557,G,T&fts=all	G1461*	--	--	1																																		LAMA2_uc003qbo.2_Nonsense_Mutation_p.G1461*	1	1			p.G1461*	NM_000426	NP_000417			1	LAMA2_HUMAN	LAMA2	HGNC	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	Q59H37_HUMAN		30	4486	+			UPI00003673E0	1461			Laminin EGF-like 15.		SNV	LAMA2,stop_gained,p.Gly1461Ter,ENST00000421865,NM_001079823.1,NM_000426.3;	uc003qbn.2	c.4381G>T	4430/9640	5	2			c.4381G>T						6	SNP	c.(4381-4383)GGA>TGA	24	24			ovary(8)|breast(1)|skin(1)	10	Broad	laminin alpha 2 subunit isoform a precursor			129663557		0.403	ENSG00000196569	8448	g.chr6:129663557G>T	cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity							18.470966	KEEP	10	14	0.416666667	103	103	10	14	0.416666667	52.185359	103	103	0.105505	1	0	0	0	0	0	1	0	0	--	--		0	T			LAMA2_uc003qbo.2_Nonsense_Mutation_p.G1461*	200	GBM-27-2521-TP	p.G1461*	G	AATTGTCAAGGGATTGCCAAA	NM_000426	NP_000417	129663557	P24043	LAMA2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	30	4486	+	T	T			Nonsense_Mutation	1461			Laminin EGF-like 15.			
LAMA2	0	broad.mit.edu	GRCh37	6	129802525	129802525	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-28-5211-01	TCGA-28-5211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000421865.2:c.7690C>G	p.Leu2564Val	p.L2564V	ENST00000421865	NM_001079823.1	2564	Ctt/Gtt	0			1			G	L/V	uc003qbn.2	protein_coding	YES	CCDS5138.1			7690/9369									ovary(8)|breast(1)|skin(1)	10	c.(7690-7692)CTT>GTT			Gene3D:2.60.120.200,Pfam_domain:PF00054,PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF106,SMART_domains:SM00282,Superfamily_domains:SSF49899	laminin alpha 2 subunit isoform a precursor				ENSP00000400365		55/65									COSM3410585	55/65	.		ENST00000421865	Transcript	1		cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	ENSG00000196569	g.chr6:129802525C>G	6482			MODERATE		2.305	medium	getma.org/?cm=msa&ty=f&p=LAMA2_HUMAN&rb=2554&re=2695&var=L2564V	getma.org/pdb.php?prot=LAMA2_HUMAN&from=2554&to=2695&var=L2564V	getma.org/?cm=var&var=hg19,6,129802525,C,G&fts=all	L2564V	--	--	1																																		LAMA2_uc003qbo.2_Missense_Mutation_p.L2560V|uc003qbq.2_RNA	1	1		probably_damaging(0.98)	p.L2564V	NM_000426	NP_000417		deleterious(0.04)	1	LAMA2_HUMAN	LAMA2	HGNC	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	Q59H37_HUMAN		54	7795	+			UPI00003673E0	2564		L -> P (in MDC1A).	Laminin G-like 3.		SNV	LAMA2,missense_variant,p.Leu2564Val,ENST00000421865,NM_001079823.1,NM_000426.3;RP1-69D17.3,non_coding_transcript_exon_variant,,ENST00000442449,;	uc003qbn.2	c.7690C>G	7739/9640	3	3			c.7690C>G						6	SNP	c.(7690-7692)CTT>GTT	61	61			ovary(8)|breast(1)|skin(1)	10	Broad	laminin alpha 2 subunit isoform a precursor			129802525		0.488	ENSG00000196569	8448	g.chr6:129802525C>G	cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity							86.921443	KEEP	16	17	-1	46	65	16	17	-1	94.385249	46	65	0.248062	1	0	0	0	0	1	0	0	0	--	--		0	G			LAMA2_uc003qbo.2_Missense_Mutation_p.L2560V|uc003qbq.2_RNA	219	GBM-28-5211-TP	p.L2564V	C	CGGCATCATTCTTTTGGGAAG	NM_000426	NP_000417	129802525	P24043	LAMA2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	54	7795	+	G	G			Missense_Mutation	2564		L -> P (in MDC1A).	Laminin G-like 3.			
LAMA2	0	broad.mit.edu	GRCh37	6	129573419	129573419	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6193-01	TCGA-76-6193-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000421865.2:c.2075T>C	p.Phe692Ser	p.F692S	ENST00000421865	NM_001079823.1	692	tTt/tCt	0			1			C	F/S	uc003qbn.2	protein_coding	YES	CCDS5138.1			2075/9369									ovary(8)|breast(1)|skin(1)	10	c.(2074-2076)TTT>TCT			Pfam_domain:PF00052,PROSITE_profiles:PS51115,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF106,SMART_domains:SM00281	laminin alpha 2 subunit isoform a precursor				ENSP00000400365		14/65									COSM3410582	14/65	.		ENST00000421865	Transcript	1		cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	ENSG00000196569	g.chr6:129573419T>C	6482			MODERATE		0.405	neutral	getma.org/?cm=msa&ty=f&p=LAMA2_HUMAN&rb=583&re=722&var=F692S	NA	getma.org/?cm=var&var=hg19,6,129573419,T,C&fts=all	F692S	--	--	1																																		LAMA2_uc003qbo.2_Missense_Mutation_p.F692S	1	1		benign(0.04)	p.F692S	NM_000426	NP_000417		tolerated(0.6)	1	LAMA2_HUMAN	LAMA2	HGNC	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	Q59H37_HUMAN		14	2180	+			UPI00003673E0	692			Laminin IV type A 1.		SNV	LAMA2,missense_variant,p.Phe692Ser,ENST00000421865,NM_001079823.1,NM_000426.3;	uc003qbn.2	c.2075T>C	2124/9640	4	4			c.2075T>C						6	SNP	c.(2074-2076)TTT>TCT	33	33			ovary(8)|breast(1)|skin(1)	10	Broad	laminin alpha 2 subunit isoform a precursor			129573419		0.453	ENSG00000196569	8448	g.chr6:129573419T>C	cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity							19.02989	KEEP	2	7	-1	32	41	2	7	-1	28.43229	32	41	0.128571	1	0	0	0	0	1	0	0	0	--	--		0	C			LAMA2_uc003qbo.2_Missense_Mutation_p.F692S	276	GBM-76-6193-TP	p.F692S	T	ACATACAGCTTTGGGATGGAT	NM_000426	NP_000417	129573419	P24043	LAMA2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	14	2180	+	C	C			Missense_Mutation	692			Laminin IV type A 1.			
LAMA2	3908		GRCh37	6	129687471	129687471	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000421865.2:c.4825C>T	p.Leu1609=	p.L1609=	ENST00000421865	NM_001079823.1	1609	Ctg/Ttg	0																																																																																																																																																																																																																																												
LAMA3	3909	broad.mit.edu	GRCh37	18	21511088	21511089	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	rs1154233	by1000genomes	TCGA-06-0174-01	TCGA-06-0174-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313654.9:c.8499_8500insG	p.Ser2834GlufsTer5	p.S2834Efs*5	ENST00000313654	NM_198129.1	2833	-/G	0			1			G	-/X	uc002kuq.2	protein_coding	YES	CCDS42419.1			8499-8500/10002									ovary(8)|skin(2)|central_nervous_system(1)	11	c.(8497-8502)GGCAGCfs			PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF259,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899	laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)			ENSP00000324532		65/75									rs762485464	65/75	.		ENST00000313654	Transcript	1		cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	ENSG00000053747	g.chr18:21511088_21511089insG	6483			HIGH								--	--	1																																		LAMA3_uc002kur.2_Frame_Shift_Ins_p.G2777fs|LAMA3_uc002kus.3_Frame_Shift_Ins_p.G1224fs|LAMA3_uc002kut.3_Frame_Shift_Ins_p.G1168fs		1			p.G2833fs	NM_198129	NP_937762				LAMA3_HUMAN	LAMA3	HGNC	Q16787	LAMA3_HUMAN			B0YJ32_HUMAN		65	8585_8586	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		UPI00001C1222	2833_2834			Laminin G-like 3.		insertion	LAMA3,frameshift_variant,p.Ser2834GlufsTer5,ENST00000313654,NM_198129.1;LAMA3,frameshift_variant,p.Ser2778GlufsTer5,ENST00000399516,NM_001127717.1;LAMA3,frameshift_variant,p.Ser1225GlufsTer5,ENST00000269217,NM_000227.3;LAMA3,frameshift_variant,p.Ser1169GlufsTer5,ENST00000587184,NM_001127718.1;LAMA3,frameshift_variant,p.Ser1094GlufsTer5,ENST00000586751,;LAMA3,frameshift_variant,p.Ser70GlufsTer5,ENST00000588164,;LAMA3,non_coding_transcript_exon_variant,,ENST00000588770,;LAMA3,upstream_gene_variant,,ENST00000592442,;	uc002kuq.2	c.8499_8500insG	8740-8741/10661	5	5			c.8499_8500insG						18	INS	c.(8497-8502)GGCAGCfs	1	1			ovary(8)|skin(2)|central_nervous_system(1)	11	Broad	laminin alpha 3 subunit isoform 1		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	21511089		0.411	ENSG00000053747	8449	g.chr18:21511088_21511089insG	cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity																				0.03	1	0	0	1	1	0	0	0	0	--	--		0	G			LAMA3_uc002kur.2_Frame_Shift_Ins_p.G2777fs|LAMA3_uc002kus.3_Frame_Shift_Ins_p.G1224fs|LAMA3_uc002kut.3_Frame_Shift_Ins_p.G1168fs	37	GBM-06-0174-TP	p.G2833fs	-	GCGATAGCGGCAGCCCAATTTT	NM_198129	NP_937762	21511088	Q16787	LAMA3_HUMAN	0			65	8585_8586	+	G	G	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		Frame_Shift_Ins	2833_2834			Laminin G-like 3.			
LAMA3	3909	broad.mit.edu	GRCh37	18	21338466	21338466	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313654.9:c.1054G>A	p.Glu352Lys	p.E352K	ENST00000313654	NM_198129.1	352	Gag/Aag	0			1			A	E/K	uc002kuq.2	protein_coding	YES	CCDS42419.1			1054/10002									ovary(8)|skin(2)|central_nervous_system(1)	11	c.(1054-1056)GAG>AAG			PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF259,PROSITE_patterns:PS01248,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196	laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)			ENSP00000324532		Jul-75									COSM2151794	Jul-75	.		ENST00000313654	Transcript	1		cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	ENSG00000053747	g.chr18:21338466G>A	6483			MODERATE		2.95	medium	getma.org/?cm=msa&ty=f&p=LAMA3_HUMAN&rb=299&re=355&var=E352K	getma.org/pdb.php?prot=LAMA3_HUMAN&from=299&to=355&var=E352K	getma.org/?cm=var&var=hg19,18,21338466,G,A&fts=all	E352K	--	--	1																																		LAMA3_uc010dlv.1_Missense_Mutation_p.E352K|LAMA3_uc002kur.2_Missense_Mutation_p.E352K	1	1		benign(0.394)	p.E352K	NM_198129	NP_937762			1	LAMA3_HUMAN	LAMA3	HGNC	Q16787	LAMA3_HUMAN			B0YJ32_HUMAN		7	1140	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		UPI00001C1222	352			Laminin EGF-like 1.|Domain V.		SNV	LAMA3,missense_variant,p.Glu352Lys,ENST00000313654,NM_198129.1;LAMA3,missense_variant,p.Glu352Lys,ENST00000399516,NM_001127717.1;LAMA3,missense_variant,p.Glu352Lys,ENST00000585600,;	uc002kuq.2	c.1054G>A	1295/10661	2	2			c.1054G>A						18	SNP	c.(1054-1056)GAG>AAG	34	34			ovary(8)|skin(2)|central_nervous_system(1)	11	Broad	laminin alpha 3 subunit isoform 1		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	21338466		0.647	ENSG00000053747	8449	g.chr18:21338466G>A	cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity							46.555745	KEEP	20	7	-1	25	13	20	7	-1	47.246181	25	13	0.369565	1	0	0	0	0	1	0	0	0	--	--		0	A			LAMA3_uc010dlv.1_Missense_Mutation_p.E352K|LAMA3_uc002kur.2_Missense_Mutation_p.E352K	68	GBM-06-0747-TP	p.E352K	G	GCAGAGCCACGAGTGTGAAGG	NM_198129	NP_937762	21338466	Q16787	LAMA3_HUMAN	0			7	1140	+	A	A	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		Missense_Mutation	352			Laminin EGF-like 1.|Domain V.			
LAMA3	3909	broad.mit.edu	GRCh37	18	21492813	21492813	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0939-01	TCGA-06-0939-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313654.9:c.7297A>G	p.Asn2433Asp	p.N2433D	ENST00000313654	NM_198129.1	2433	Aat/Gat	0			1			G	N/D	uc002kuq.2	protein_coding	YES	CCDS42419.1			7297/10002									ovary(8)|skin(2)|central_nervous_system(1)	11	c.(7297-7299)AAT>GAT			PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF259,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899	laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)			ENSP00000324532		56/75									COSM2152403,COSM2152402	56/75	.		ENST00000313654	Transcript	1		cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	ENSG00000053747	g.chr18:21492813A>G	6483			MODERATE		-0.485	neutral	getma.org/?cm=msa&ty=f&p=LAMA3_HUMAN&rb=2430&re=2569&var=N2433D	NA	getma.org/?cm=var&var=hg19,18,21492813,A,G&fts=all	N2433D	--	--	1																																		LAMA3_uc002kur.2_Missense_Mutation_p.N2377D|LAMA3_uc002kus.3_Missense_Mutation_p.N824D|LAMA3_uc002kut.3_Missense_Mutation_p.N768D	1,1	1		benign(0.014)	p.N2433D	NM_198129	NP_937762			1,1	LAMA3_HUMAN	LAMA3	HGNC	Q16787	LAMA3_HUMAN			B0YJ32_HUMAN		56	7383	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		UPI00001C1222	2433			Laminin G-like 1.		SNV	LAMA3,missense_variant,p.Asn2433Asp,ENST00000313654,NM_198129.1;LAMA3,missense_variant,p.Asn2377Asp,ENST00000399516,NM_001127717.1;LAMA3,missense_variant,p.Asn824Asp,ENST00000269217,NM_000227.3;LAMA3,missense_variant,p.Asn768Asp,ENST00000587184,NM_001127718.1;LAMA3,missense_variant,p.Asn693Asp,ENST00000586751,;LAMA3,non_coding_transcript_exon_variant,,ENST00000588770,;	uc002kuq.2	c.7297A>G	7538/10661	3	3			c.7297A>G						18	SNP	c.(7297-7299)AAT>GAT	15	15			ovary(8)|skin(2)|central_nervous_system(1)	11	Broad	laminin alpha 3 subunit isoform 1		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	21492813		0.398	ENSG00000053747	8449	g.chr18:21492813A>G	cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity							169.810111	KEEP	27	41	-1	86	86	27	41	-1	178.628141	86	86	0.274611	1	0	0	0	0	1	0	0	0	--	--		0	G			LAMA3_uc002kur.2_Missense_Mutation_p.N2377D|LAMA3_uc002kus.3_Missense_Mutation_p.N824D|LAMA3_uc002kut.3_Missense_Mutation_p.N768D	78	GBM-06-0939-TP	p.N2433D	A	GGGTACTGAGAATATGTTTGT	NM_198129	NP_937762	21492813	Q16787	LAMA3_HUMAN	0			56	7383	+	G	G	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		Missense_Mutation	2433			Laminin G-like 1.			
LAMA3	0	broad.mit.edu	GRCh37	18	21511114	21511114	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01	TCGA-32-2634-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313654.9:c.8525C>T	p.Thr2842Met	p.T2842M	ENST00000313654	NM_198129.1	2842	aCg/aTg	0			1			T	T/M	uc002kuq.2	protein_coding	YES	CCDS42419.1			8525/10002									ovary(8)|skin(2)|central_nervous_system(1)	11	c.(8524-8526)ACG>ATG			PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF259,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899	laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)			ENSP00000324532		65/75	8.24E-06							6.06E-05	rs774819338,COSM3403473,COSM3403472	65/75	.		ENST00000313654	Transcript	1		cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	ENSG00000053747	g.chr18:21511114C>T	6483			MODERATE		2.395	medium	getma.org/?cm=msa&ty=f&p=LAMA3_HUMAN&rb=2797&re=2904&var=T2842M	NA	getma.org/?cm=var&var=hg19,18,21511114,C,T&fts=all	T2842M	--	--	1																																		LAMA3_uc002kur.2_Missense_Mutation_p.T2786M|LAMA3_uc002kus.3_Missense_Mutation_p.T1233M|LAMA3_uc002kut.3_Missense_Mutation_p.T1177M	0,1,1	1		probably_damaging(0.932)	p.T2842M	NM_198129	NP_937762			0,1,1	LAMA3_HUMAN	LAMA3	HGNC	Q16787	LAMA3_HUMAN			B0YJ32_HUMAN		65	8611	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		UPI00001C1222	2842			Laminin G-like 3.		SNV	LAMA3,missense_variant,p.Thr2842Met,ENST00000313654,NM_198129.1;LAMA3,missense_variant,p.Thr2786Met,ENST00000399516,NM_001127717.1;LAMA3,missense_variant,p.Thr1233Met,ENST00000269217,NM_000227.3;LAMA3,missense_variant,p.Thr1177Met,ENST00000587184,NM_001127718.1;LAMA3,missense_variant,p.Thr1102Met,ENST00000586751,;LAMA3,missense_variant,p.Thr78Met,ENST00000588164,;LAMA3,non_coding_transcript_exon_variant,,ENST00000588770,;LAMA3,upstream_gene_variant,,ENST00000592442,;	uc002kuq.2	c.8525C>T	8766/10661	2	2			c.8525C>T						18	SNP	c.(8524-8526)ACG>ATG	34	34			ovary(8)|skin(2)|central_nervous_system(1)	11	Broad	laminin alpha 3 subunit isoform 1		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	21511114		0.428	ENSG00000053747	8449	g.chr18:21511114C>T	cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity							177.635094	KEEP	33	23	-1	10	7	33	23	-1	181.679724	10	7	0.753623	1	0	0	0	0	1	0	0	0	--	--		0	T			LAMA3_uc002kur.2_Missense_Mutation_p.T2786M|LAMA3_uc002kus.3_Missense_Mutation_p.T1233M|LAMA3_uc002kut.3_Missense_Mutation_p.T1177M	241	GBM-32-2634-TP	p.T2842M	C	TCTCCACAGACGTATATGGAT	NM_198129	NP_937762	21511114	Q16787	LAMA3_HUMAN	0			65	8611	+	T	T	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		Missense_Mutation	2842			Laminin G-like 3.			
LAMA3	3909		GRCh37	18	21441699	21441699	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000313654.9:c.4512G>A	p.Ala1504=	p.A1504=	ENST00000313654	NM_198129.1	1504	gcG/gcA	0																																																																																																																																																																																																																																												
LAMA4	3910		GRCh37	6	112496666	112496666	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000230538.7:c.1206G>T	p.Met402Ile	p.M402I	ENST00000230538	NM_001105206.2	402	atG/atT	0																																																																																																																																																																																																																																												
LAMA5	3911	broad.mit.edu	GRCh37	20	60887326	60887326	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252999.3:c.9407C>T	p.Ala3136Val	p.A3136V	ENST00000252999	NM_005560.4	3136	gCg/gTg	0			1			A	A/V	uc002ycq.2	protein_coding	YES	CCDS33502.1			9407/11088									ovary(1)|pancreas(1)|skin(1)	3	c.(9406-9408)GCG>GTG			Gene3D:2.60.120.200,PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF261,Superfamily_domains:SSF49899	laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)			ENSP00000252999		69/80	9.97E-05			0.000902		3.42E-05		0.000197	rs778467081	69/80	common_variant		ENST00000252999	Transcript			angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	ENSG00000130702	g.chr20:60887326G>A	6485			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=LAMA5_HUMAN&rb=3124&re=3292&var=A3136V	NA	getma.org/?cm=var&var=hg19,20,60887326,G,A&fts=all	A3136V	--	--	1																																				1		benign(0.036)	p.A3136V	NM_005560	NP_005551				LAMA5_HUMAN	LAMA5	HGNC	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		O75079_HUMAN		69	9474	-	Breast(26;1.57e-08)		UPI0000161FDC	3136			Laminin G-like 3.		SNV	LAMA5,missense_variant,p.Ala3136Val,ENST00000252999,NM_005560.4;ADRM1,downstream_gene_variant,,ENST00000253003,NM_175573.2,NM_001281438.1,NM_007002.3,NM_001281437.1;LAMA5,upstream_gene_variant,,ENST00000492698,;LAMA5,missense_variant,p.Ala301Val,ENST00000370691,;LAMA5,non_coding_transcript_exon_variant,,ENST00000491036,;LAMA5,upstream_gene_variant,,ENST00000495695,;LAMA5,upstream_gene_variant,,ENST00000462415,;LAMA5,downstream_gene_variant,,ENST00000471042,;LAMA5,downstream_gene_variant,,ENST00000468786,;	uc002ycq.2	c.9407C>T	9474/11426	2	2			c.9407C>T						20	SNP	c.(9406-9408)GCG>GTG	28	28			ovary(1)|pancreas(1)|skin(1)	3	Broad	laminin alpha 5 precursor		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	60887326		0.682	ENSG00000130702	8451	g.chr20:60887326G>A	angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding							8.0909	KEEP	2	2	-1	12	7	2	2	-1	9.969703	12	7	0.190476	1	0	0	0	0	1	0	0	0	--	--		0	A				18	GBM-06-0137-TP	p.A3136V	G	GTTCGAGAGCGCCAGGCGAAG	NM_005560	NP_005551	60887326	O15230	LAMA5_HUMAN	0	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		69	9474	-	A	A	Breast(26;1.57e-08)		Missense_Mutation	3136			Laminin G-like 3.			
LAMA5	0	broad.mit.edu	GRCh37	20	60921843	60921843	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-1833-01	TCGA-27-1833-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252999.3:c.1086C>T	p.Tyr362=	p.Y362=	ENST00000252999	NM_005560.4	362	taC/taT	0	A:0.0002		1			A	Y	uc002ycq.2	protein_coding	YES	CCDS33502.1			1086/11088									ovary(1)|pancreas(1)|skin(1)	3	c.(1084-1086)TAC>TAT			Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF261,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196	laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)		A:0	ENSP00000252999		Aug-80	8.27E-06					1.64E-05			rs373700695,COSM3405256	Aug-80	.		ENST00000252999	Transcript			angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	ENSG00000130702	g.chr20:60921843G>A	6485			LOW								--	--	1																																			0,1	1			p.Y362Y	NM_005560	NP_005551			0,1	LAMA5_HUMAN	LAMA5	HGNC	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		O75079_HUMAN		8	1153	-	Breast(26;1.57e-08)		UPI0000161FDC	362			Laminin EGF-like 2.		SNV	LAMA5,synonymous_variant,p.=,ENST00000252999,NM_005560.4;LAMA5,synonymous_variant,p.=,ENST00000370692,;LAMA5,synonymous_variant,p.=,ENST00000370677,;LAMA5,non_coding_transcript_exon_variant,,ENST00000497053,;	uc002ycq.2	c.1086C>T	1153/11426	2	2			c.1086C>T						20	SNP	c.(1084-1086)TAC>TAT	28	28			ovary(1)|pancreas(1)|skin(1)	3	Broad	laminin alpha 5 precursor		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	60921843		0.667	ENSG00000130702	8451	g.chr20:60921843G>A	angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding							-1.912186	KEEP	3	1	-1	33	21	3	1	-1	6.846794	33	21	0.066667	1	0	0	0	0	0	0	1	0	--	--		0	A				192	GBM-27-1833-TP	p.Y362Y	G	TGGCATGGCCGTAGCAGTTAC	NM_005560	NP_005551	60921843	O15230	LAMA5_HUMAN	0	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		8	1153	-	A	A	Breast(26;1.57e-08)		Silent	362			Laminin EGF-like 2.			
LAMA5	0	broad.mit.edu	GRCh37	20	60897158	60897158	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs143066016	byFrequency	TCGA-28-5213-01	TCGA-28-5213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252999.3:c.6413G>A	p.Ser2138Asn	p.S2138N	ENST00000252999	NM_005560.4	2138	aGc/aAc	0			1			T	S/N	uc002ycq.2	protein_coding	YES	CCDS33502.1			6413/11088									ovary(1)|pancreas(1)|skin(1)	3	c.(6412-6414)AGC>AAC			Gene3D:2.10.25.10,PROSITE_patterns:PS00022,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF261,SMART_domains:SM00180,SMART_domains:SM00181	laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)			ENSP00000252999		48/80									COSM3405253	48/80	.		ENST00000252999	Transcript			angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	ENSG00000130702	g.chr20:60897158C>T	6485			MODERATE		1.48	low	getma.org/?cm=msa&ty=f&p=LAMA5_HUMAN&rb=2114&re=2153&var=S2138N	NA	getma.org/?cm=var&var=hg19,20,60897158,C,T&fts=all	S2138N	--	--	1																																			1	1		benign(0.086)	p.S2138N	NM_005560	NP_005551			1	LAMA5_HUMAN	LAMA5	HGNC	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		O75079_HUMAN		48	6480	-	Breast(26;1.57e-08)		UPI0000161FDC	2138			Laminin EGF-like 22.		SNV	LAMA5,missense_variant,p.Ser2138Asn,ENST00000252999,NM_005560.4;LAMA5,downstream_gene_variant,,ENST00000497363,;LAMA5,downstream_gene_variant,,ENST00000464134,;LAMA5,upstream_gene_variant,,ENST00000481120,;	uc002ycq.2	c.6413G>A	6480/11426	2	2			c.6413G>A						20	SNP	c.(6412-6414)AGC>AAC	21	21			ovary(1)|pancreas(1)|skin(1)	3	Broad	laminin alpha 5 precursor		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	60897158		0.701	ENSG00000130702	8451	g.chr20:60897158C>T	angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding							29.13543	KEEP	6	8	-1	26	27	6	8	-1	34.375923	26	27	0.203125	1	0	0	0	0	1	0	0	0	--	--		0	T				220	GBM-28-5213-TP	p.S2138N	C	GCGCTCCCCGCTGAGCCCCGG	NM_005560	NP_005551	60897158	O15230	LAMA5_HUMAN	0	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		48	6480	-	T	T	Breast(26;1.57e-08)		Missense_Mutation	2138			Laminin EGF-like 22.			
LAMA5	0	broad.mit.edu	GRCh37	20	60912694	60912694	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252999.3:c.2116C>T	p.Arg706Trp	p.R706W	ENST00000252999	NM_005560.4	706	Cgg/Tgg	0			1			A	R/W	uc002ycq.2	protein_coding	YES	CCDS33502.1			2116/11088									ovary(1)|pancreas(1)|skin(1)	3	c.(2116-2118)CGG>TGG			Gene3D:2.10.25.10,Pfam_domain:PF00053,Prints_domain:PR00011,PROSITE_patterns:PS00022,PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF261,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196	laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)			ENSP00000252999		16/80	0.000166				0.0022	7.87E-05			rs778168434,COSM1256279	16/80	common_variant		ENST00000252999	Transcript			angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	ENSG00000130702	g.chr20:60912694G>A	6485			MODERATE		3.595	high	getma.org/?cm=msa&ty=f&p=LAMA5_HUMAN&rb=677&re=725&var=R706W	getma.org/pdb.php?prot=LAMA5_HUMAN&from=677&to=725&var=R706W	getma.org/?cm=var&var=hg19,20,60912694,G,A&fts=all	R706W	--	--	1																																			0,1	1		probably_damaging(0.999)	p.R706W	NM_005560	NP_005551			0,1	LAMA5_HUMAN	LAMA5	HGNC	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		O75079_HUMAN		16	2183	-	Breast(26;1.57e-08)		UPI0000161FDC	706			Laminin EGF-like 8.		SNV	LAMA5,missense_variant,p.Arg706Trp,ENST00000252999,NM_005560.4;LAMA5,downstream_gene_variant,,ENST00000370692,;LAMA5,upstream_gene_variant,,ENST00000474128,;	uc002ycq.2	c.2116C>T	2183/11426	2	2			c.2116C>T						20	SNP	c.(2116-2118)CGG>TGG	46	46			ovary(1)|pancreas(1)|skin(1)	3	Broad	laminin alpha 5 precursor		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	60912694		0.667	ENSG00000130702	8451	g.chr20:60912694G>A	angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding							3.10699	KEEP	1	2	-1	16	13	1	2	-1	7.392386	16	13	0.107143	1	0	0	0	0	1	0	0	0	--	--		0	A				235	GBM-32-2491-TP	p.R706W	G	GTGTCACACCGCAGCCCCGTC	NM_005560	NP_005551	60912694	O15230	LAMA5_HUMAN	0	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		16	2183	-	A	A	Breast(26;1.57e-08)		Missense_Mutation	706			Laminin EGF-like 8.			
LAMA5	0	broad.mit.edu	GRCh37	20	60911477	60911477	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01	TCGA-76-6193-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252999.3:c.2242G>A	p.Ala748Thr	p.A748T	ENST00000252999	NM_005560.4	748	Gct/Act	0			1			T	A/T	uc002ycq.2	protein_coding	YES	CCDS33502.1			2242/11088									ovary(1)|pancreas(1)|skin(1)	3	c.(2242-2244)GCT>ACT			Gene3D:2.10.25.10,PROSITE_patterns:PS00022,PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF261,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196	laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)			ENSP00000252999		18/80									COSM3405255	18/80	.		ENST00000252999	Transcript			angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	ENSG00000130702	g.chr20:60911477C>T	6485			MODERATE		1.56	low	getma.org/?cm=msa&ty=f&p=LAMA5_HUMAN&rb=719&re=773&var=A748T	NA	getma.org/?cm=var&var=hg19,20,60911477,C,T&fts=all	A748T	--	--	1																																			1	1		probably_damaging(0.926)	p.A748T	NM_005560	NP_005551			1	LAMA5_HUMAN	LAMA5	HGNC	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		O75079_HUMAN		18	2309	-	Breast(26;1.57e-08)		UPI0000161FDC	748			Laminin EGF-like 9.		SNV	LAMA5,missense_variant,p.Ala748Thr,ENST00000252999,NM_005560.4;MIR4758,upstream_gene_variant,,ENST00000577688,;LAMA5,3_prime_UTR_variant,,ENST00000474128,;	uc002ycq.2	c.2242G>A	2309/11426	2	2			c.2242G>A						20	SNP	c.(2242-2244)GCT>ACT	47	47			ovary(1)|pancreas(1)|skin(1)	3	Broad	laminin alpha 5 precursor		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	60911477		0.642	ENSG00000130702	8451	g.chr20:60911477C>T	angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding							20.667459	KEEP	3	10	-1	37	36	3	10	-1	29.386271	37	36	0.155844	1	0	0	0	0	1	0	0	0	--	--		0	T				276	GBM-76-6193-TP	p.A748T	C	TCCACGTGAGCCCGGCACATA	NM_005560	NP_005551	60911477	O15230	LAMA5_HUMAN	0	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		18	2309	-	T	T	Breast(26;1.57e-08)		Missense_Mutation	748			Laminin EGF-like 9.			
LAMA5	3911		GRCh37	20	60928193	60928193	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000252999.3:c.565G>C	p.Ala189Pro	p.A189P	ENST00000252999	NM_005560.4	189	Gcc/Ccc	0																																																																																																																																																																																																																																												
LAMB1	3912	broad.mit.edu	GRCh37	7	107591684	107591684	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0132-01	TCGA-06-0132-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222399.6:c.3378C>T	p.Asp1126=	p.D1126=	ENST00000222399	NM_002291.2	1126	gaC/gaT	0			1			A	D	uc003vew.2	protein_coding	YES	CCDS5750.1			3378/5361									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8	c.(3376-3378)GAC>GAT			Gene3D:2.10.25.10,Pfam_domain:PF00053,Prints_domain:PR00011,PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF233,SMART_domains:SM00180,Superfamily_domains:SSF57196	laminin, beta 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)			ENSP00000222399		24/34	8.24E-06							6.06E-05	rs759130532,COSM3411461	24/34	.		ENST00000222399	Transcript	1		axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	ENSG00000091136	g.chr7:107591684G>A	6486			LOW								--	--	1																																		LAMB1_uc003vev.2_Silent_p.D1150D	0,1	1			p.D1126D	NM_002291	NP_002282			0,1	LAMB1_HUMAN	LAMB1	HGNC	P07942	LAMB1_HUMAN			Q75MC8_HUMAN,E9PCS6_HUMAN		24	3713	-			UPI00001AE63F	1126			Laminin EGF-like 12.		SNV	LAMB1,synonymous_variant,p.=,ENST00000393561,;LAMB1,synonymous_variant,p.=,ENST00000222399,NM_002291.2;LAMB1,non_coding_transcript_exon_variant,,ENST00000476039,;LAMB1,non_coding_transcript_exon_variant,,ENST00000479448,;	uc003vew.2	c.3378C>T	3609/5725	2	2			c.3378C>T						7	SNP	c.(3376-3378)GAC>GAT	33	33			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8	Broad	laminin, beta 1 precursor		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	107591684		0.572	ENSG00000091136	8452	g.chr7:107591684G>A	axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent							26.903613	KEEP	7	11	-1	47	58	7	11	-1	39.227459	47	58	0.155963	1	0	0	0	0	0	0	1	0	--	--		0	A			LAMB1_uc003vev.2_Silent_p.D1150D	17	GBM-06-0132-TP	p.D1126D	G	GGCACTCCACGTCGGGGTCTC	NM_002291	NP_002282	107591684	P07942	LAMB1_HUMAN	0			24	3713	-	A	A			Silent	1126			Laminin EGF-like 12.			
LAMB1	3912	broad.mit.edu	GRCh37	7	107600136	107600136	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	rs140619520		TCGA-06-0158-01	TCGA-06-0158-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222399.6:c.2458C>T	p.Pro820Ser	p.P820S	ENST00000222399	NM_002291.2	820	Cct/Tct	0	A:0		1			A	P/S	uc003vew.2	protein_coding	YES	CCDS5750.1			2458/5361						not_provided			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8	c.(2458-2460)CCT>TCT			Gene3D:2.10.25.10,PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF233,Superfamily_domains:SSF57196	laminin, beta 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)		A:0.0002	ENSP00000222399		19/34	0.000214		8.66E-05	0.00104		0.000165		0.000304	rs140619520,COSM236779	19/34	common_variant		ENST00000222399	Transcript	1		axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	ENSG00000091136	g.chr7:107600136G>A	6486			MODERATE		1.515	low	getma.org/?cm=msa&ty=f&p=LAMB1_HUMAN&rb=773&re=820&var=P820S	NA	getma.org/?cm=var&var=hg19,7,107600136,G,A&fts=all	P820S	--	--	1																																		LAMB1_uc003vev.2_Missense_Mutation_p.P844S|LAMB1_uc003vex.2_Missense_Mutation_p.R820C	1,1	1		benign(0.002)	p.P820S	NM_002291	NP_002282		tolerated(0.38)	0,1	LAMB1_HUMAN	LAMB1	HGNC	P07942	LAMB1_HUMAN			Q75MC8_HUMAN,E9PCS6_HUMAN		19	2793	-			UPI00001AE63F	820			Laminin EGF-like 6.		SNV	LAMB1,missense_variant,p.Pro844Ser,ENST00000393561,;LAMB1,missense_variant,p.Pro820Ser,ENST00000222399,NM_002291.2;LAMB1,missense_variant,p.Arg820Cys,ENST00000393560,;	uc003vew.2	c.2458C>T	2689/5725	2	2			c.2458C>T						7	SNP	c.(2458-2460)CCT>TCT	24	24			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8	Broad	laminin, beta 1 precursor		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	107600136		0.527	ENSG00000091136	8452	g.chr7:107600136G>A	axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent							-18.264798	KEEP	2	5	-1	58	81	2	5	-1	8.991404	58	81	0.048	1	0	0	0	0	1	0	0	0	--	--		0	A			LAMB1_uc003vev.2_Missense_Mutation_p.P844S|LAMB1_uc003vex.2_Missense_Mutation_p.R820C	29	GBM-06-0158-TP	p.P820S	G	AGGAACCTACGTTTGCATCCA	NM_002291	NP_002282	107600136	P07942	LAMB1_HUMAN	0			19	2793	-	A	A			Missense_Mutation	820			Laminin EGF-like 6.			
LAMB1	0	broad.mit.edu	GRCh37	7	107600245	107600245	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-4068-01	TCGA-19-4068-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222399.6:c.2349C>T	p.Ser783=	p.S783=	ENST00000222399	NM_002291.2	783	tcC/tcT	0			1			A	S	uc003vew.2	protein_coding	YES	CCDS5750.1			2349/5361									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8	c.(2347-2349)TCC>TCT			Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF233,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196	laminin, beta 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)			ENSP00000222399		19/34	1.65E-05		0.000186						rs775144042,COSM2156496	19/34	.		ENST00000222399	Transcript	1		axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	ENSG00000091136	g.chr7:107600245G>A	6486			LOW								--	--	1																																		LAMB1_uc003vev.2_Silent_p.S807S|LAMB1_uc003vex.2_Silent_p.S783S	0,1	1			p.S783S	NM_002291	NP_002282			0,1	LAMB1_HUMAN	LAMB1	HGNC	P07942	LAMB1_HUMAN			Q75MC8_HUMAN,E9PCS6_HUMAN		19	2684	-			UPI00001AE63F	783			Laminin EGF-like 6.		SNV	LAMB1,synonymous_variant,p.=,ENST00000393561,;LAMB1,synonymous_variant,p.=,ENST00000222399,NM_002291.2;LAMB1,synonymous_variant,p.=,ENST00000393560,;	uc003vew.2	c.2349C>T	2580/5725	2	2			c.2349C>T						7	SNP	c.(2347-2349)TCC>TCT	47	47			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8	Broad	laminin, beta 1 precursor		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	107600245		0.572	ENSG00000091136	8452	g.chr7:107600245G>A	axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent							37.820679	KEEP	10	7	-1	20	28	10	7	-1	41.359371	20	28	0.241379	1	0	0	0	0	0	0	1	0	--	--		0	A			LAMB1_uc003vev.2_Silent_p.S807S|LAMB1_uc003vex.2_Silent_p.S783S	168	GBM-19-4068-TP	p.S783S	G	GATCACACACGGAACTTAACG	NM_002291	NP_002282	107600245	P07942	LAMB1_HUMAN	0			19	2684	-	A	A			Silent	783			Laminin EGF-like 6.			
LAMB1	0	broad.mit.edu	GRCh37	7	107566693	107566693	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs143093758		TCGA-32-2495-01	TCGA-32-2495-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222399.6:c.4999G>T	p.Gly1667Trp	p.G1667W	ENST00000222399	NM_002291.2	1667	Ggg/Tgg	0			1			A	G/W	uc003vew.2	protein_coding	YES	CCDS5750.1			4999/5361									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8	c.(4999-5001)GGG>TGG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF233	laminin, beta 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)			ENSP00000222399		32/34									COSM3411459	32/34	.		ENST00000222399	Transcript	1		axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	ENSG00000091136	g.chr7:107566693C>A	6486			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=LAMB1_HUMAN&rb=1577&re=1706&var=G1667W	NA	getma.org/?cm=var&var=hg19,7,107566693,C,A&fts=all	G1667W	--	--	1																																		LAMB1_uc003vev.2_Missense_Mutation_p.G1691W|LAMB1_uc003veu.2_Missense_Mutation_p.G150W	1	1		possibly_damaging(0.473)	p.G1667W	NM_002291	NP_002282		deleterious(0.03)	1	LAMB1_HUMAN	LAMB1	HGNC	P07942	LAMB1_HUMAN			Q75MC8_HUMAN,E9PCS6_HUMAN		32	5334	-			UPI00001AE63F	1667			Potential.|Domain I.		SNV	LAMB1,missense_variant,p.Gly1691Trp,ENST00000393561,;LAMB1,missense_variant,p.Gly1667Trp,ENST00000222399,NM_002291.2;LAMB1,downstream_gene_variant,,ENST00000474380,;LAMB1,non_coding_transcript_exon_variant,,ENST00000472714,;DLD,intron_variant,,ENST00000417551,;	uc003vew.2	c.4999G>T	5230/5725	2	2			c.4999G>T						7	SNP	c.(4999-5001)GGG>TGG	35	35			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8	Broad	laminin, beta 1 precursor		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	107566693		0.428	ENSG00000091136	8452	g.chr7:107566693C>A	axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent							-55.569729	KEEP	3	2	0.4	132	143	3	2	0.4	9.535592	132	143	0.019841	1	0	0	0	0	1	0	0	0	--	--		0	A			LAMB1_uc003vev.2_Missense_Mutation_p.G1691W|LAMB1_uc003veu.2_Missense_Mutation_p.G150W	237	GBM-32-2495-TP	p.G1667W	C	TCTGCCTCCCCGGAGTTTTGG	NM_002291	NP_002282	107566693	P07942	LAMB1_HUMAN	0			32	5334	-	A	A			Missense_Mutation	1667			Potential.|Domain I.			
LAMB3	0	broad.mit.edu	GRCh37	1	209803992	209803992	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs114394307	by1000genomes	TCGA-14-0786-01	TCGA-14-0786-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356082.4:c.911C>T	p.Pro304Leu	p.P304L	ENST00000356082	NM_000228.2	304	cCg/cTg	0	A:0	A:0	1	A:0		A	P/L	uc001hhg.2	protein_coding		CCDS1487.1			911/3519									central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6	c.(910-912)CCG>CTG			Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF245,SMART_domains:SM00180,Superfamily_domains:SSF57196	laminin, beta 3 precursor		A:0.001	A:0.0003	ENSP00000348384	A:0.001	23-Sep	0.000502		8.65E-05		0.000607	0.00084			rs114394307,COSM3400268	23-Sep	common_variant		ENST00000356082	Transcript	1	A:0.0004	cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	ENSG00000196878	g.chr1:209803992G>A	6490			MODERATE		3.475	medium	getma.org/?cm=msa&ty=f&p=LAMB3_HUMAN&rb=250&re=313&var=P304L	getma.org/pdb.php?prot=LAMB3_HUMAN&from=250&to=313&var=P304L	getma.org/?cm=var&var=hg19,1,209803992,G,A&fts=all	P304L	--	--	1																																		LAMB3_uc009xco.2_Missense_Mutation_p.P304L|LAMB3_uc001hhh.2_Missense_Mutation_p.P304L|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Missense_Mutation_p.P240L	0,1			probably_damaging(0.983)	p.P304L	NM_001017402	NP_001017402	A:0	deleterious(0)	0,1	LAMB3_HUMAN	LAMB3	HGNC	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	Q5THA1_HUMAN		8	1301	-			UPI000012E76F	304			Laminin EGF-like 1.		SNV	LAMB3,missense_variant,p.Pro304Leu,ENST00000391911,NM_001017402.1;LAMB3,missense_variant,p.Pro304Leu,ENST00000356082,NM_000228.2;LAMB3,missense_variant,p.Pro304Leu,ENST00000367030,NM_001127641.1;LAMB3,downstream_gene_variant,,ENST00000415782,;	uc001hhg.2	c.911C>T	1046/4055	2	2			c.911C>T						1	SNP	c.(910-912)CCG>CTG	17	17			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6	Broad	laminin, beta 3 precursor			209803992		0.622	ENSG00000196878	8454	g.chr1:209803992G>A	cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity							-11.339965	KEEP	1	2	-1	53	38	1	2	-1	6.329653	53	38	0.038961	1	0	0	0	0	1	0	0	0	--	--		0	A			LAMB3_uc009xco.2_Missense_Mutation_p.P304L|LAMB3_uc001hhh.2_Missense_Mutation_p.P304L|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Missense_Mutation_p.P240L	134	GBM-14-0786-TP	p.P304L	G	GCCCTCCGCCGGTCTCCAGGG	NM_001017402	NP_001017402	209803992	Q13751	LAMB3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	8	1301	-	A	A			Missense_Mutation	304			Laminin EGF-like 1.			
LAMB3	0	broad.mit.edu	GRCh37	1	209797264	209797264	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-16-0846-01	TCGA-16-0846-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356082.4:c.2058C>T	p.Asp686=	p.D686=	ENST00000356082	NM_000228.2	686	gaC/gaT	0			1			A	D	uc001hhg.2	protein_coding		CCDS1487.1			2058/3519									central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6	c.(2056-2058)GAC>GAT			hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF245	laminin, beta 3 precursor				ENSP00000348384		15/23									COSM3400266	15/23	.		ENST00000356082	Transcript	1		cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	ENSG00000196878	g.chr1:209797264G>A	6490			LOW								--	--	1																																		LAMB3_uc009xco.2_Silent_p.D686D|LAMB3_uc001hhh.2_Silent_p.D686D|LAMB3_uc010psl.1_RNA|hsa-mir-4260|MI0015859_5'Flank	1				p.D686D	NM_001017402	NP_001017402			1	LAMB3_HUMAN	LAMB3	HGNC	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	Q5THA1_HUMAN		14	2448	-			UPI000012E76F	686			Domain II.		SNV	LAMB3,synonymous_variant,p.=,ENST00000391911,NM_001017402.1;LAMB3,synonymous_variant,p.=,ENST00000356082,NM_000228.2;LAMB3,synonymous_variant,p.=,ENST00000367030,NM_001127641.1;MIR4260,upstream_gene_variant,,ENST00000583107,;	uc001hhg.2	c.2058C>T	2193/4055	2	2			c.2058C>T						1	SNP	c.(2056-2058)GAC>GAT	28	28			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6	Broad	laminin, beta 3 precursor			209797264		0.547	ENSG00000196878	8454	g.chr1:209797264G>A	cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity							-3.165844	KEEP	5	9	-1	99	60	5	9	-1	25.256161	99	60	0.081761	1	0	0	0	0	0	0	1	0	--	--		0	A			LAMB3_uc009xco.2_Silent_p.D686D|LAMB3_uc001hhh.2_Silent_p.D686D|LAMB3_uc010psl.1_RNA|hsa-mir-4260|MI0015859_5'Flank	155	GBM-16-0846-TP	p.D686D	G	TGAAGCTTCTGTCAAGACTCT	NM_001017402	NP_001017402	209797264	Q13751	LAMB3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	14	2448	-	A	A			Silent	686			Domain II.			
LAMB3	0	broad.mit.edu	GRCh37	1	209804029	209804029	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1835-01	TCGA-27-1835-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356082.4:c.874C>T	p.Arg292Cys	p.R292C	ENST00000356082	NM_000228.2	292	Cgc/Tgc	0			1			A	R/C	uc001hhg.2	protein_coding		CCDS1487.1			874/3519									central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6	c.(874-876)CGC>TGC			Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF245,SMART_domains:SM00180,Superfamily_domains:SSF57196	laminin, beta 3 precursor				ENSP00000348384		23-Sep	2.47E-05			0.000116		3.00E-05			rs762942741,COSM2157257	23-Sep	.		ENST00000356082	Transcript	1		cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	ENSG00000196878	g.chr1:209804029G>A	6490			MODERATE		3.135	medium	getma.org/?cm=msa&ty=f&p=LAMB3_HUMAN&rb=250&re=313&var=R292C	getma.org/pdb.php?prot=LAMB3_HUMAN&from=250&to=313&var=R292C	getma.org/?cm=var&var=hg19,1,209804029,G,A&fts=all	R292C	--	--	1																																		LAMB3_uc009xco.2_Missense_Mutation_p.R292C|LAMB3_uc001hhh.2_Missense_Mutation_p.R292C|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Missense_Mutation_p.R228C	0,1			probably_damaging(0.982)	p.R292C	NM_001017402	NP_001017402		deleterious(0)	0,1	LAMB3_HUMAN	LAMB3	HGNC	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	Q5THA1_HUMAN		8	1264	-			UPI000012E76F	292			Laminin EGF-like 1.		SNV	LAMB3,missense_variant,p.Arg292Cys,ENST00000391911,NM_001017402.1;LAMB3,missense_variant,p.Arg292Cys,ENST00000356082,NM_000228.2;LAMB3,missense_variant,p.Arg292Cys,ENST00000367030,NM_001127641.1;LAMB3,downstream_gene_variant,,ENST00000415782,;	uc001hhg.2	c.874C>T	1009/4055	1	1			c.874C>T						1	SNP	c.(874-876)CGC>TGC	64	64			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6	Broad	laminin, beta 3 precursor			209804029		0.597	ENSG00000196878	8454	g.chr1:209804029G>A	cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity							75.712096	KEEP	10	20	-1	21	26	10	20	-1	76.341839	21	26	0.397059	1	0	0	0	0	1	0	0	0	--	--		0	A			LAMB3_uc009xco.2_Missense_Mutation_p.R292C|LAMB3_uc001hhh.2_Missense_Mutation_p.R292C|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Missense_Mutation_p.R228C	194	GBM-27-1835-TP	p.R292C	G	GGTGCACAGCGCTCACAATTT	NM_001017402	NP_001017402	209804029	Q13751	LAMB3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	8	1264	-	A	A			Missense_Mutation	292			Laminin EGF-like 1.			
LAMB3	0	broad.mit.edu	GRCh37	1	209801465	209801465	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-27-2523-01	TCGA-27-2523-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356082.4:c.1203C>G	p.Cys401Trp	p.C401W	ENST00000356082	NM_000228.2	401	tgC/tgG	0			1			C	C/W	uc001hhg.2	protein_coding		CCDS1487.1			1203/3519									central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6	c.(1201-1203)TGC>TGG			Gene3D:2.10.25.10,Pfam_domain:PF00053,Prints_domain:PR00011,PROSITE_patterns:PS00022,PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF245,SMART_domains:SM00180,Superfamily_domains:SSF57196	laminin, beta 3 precursor				ENSP00000348384		23-Nov									COSM3400267	23-Nov	.		ENST00000356082	Transcript	1		cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	ENSG00000196878	g.chr1:209801465G>C	6490			MODERATE		4.66	high	getma.org/?cm=msa&ty=f&p=LAMB3_HUMAN&rb=379&re=428&var=C401W	getma.org/pdb.php?prot=LAMB3_HUMAN&from=379&to=428&var=C401W	getma.org/?cm=var&var=hg19,1,209801465,G,C&fts=all	C401W	--	--	1																																OREG0014217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	LAMB3_uc009xco.2_Missense_Mutation_p.C401W|LAMB3_uc001hhh.2_Missense_Mutation_p.C401W|LAMB3_uc010psl.1_RNA	1			probably_damaging(1)	p.C401W	NM_001017402	NP_001017402		deleterious(0)	1	LAMB3_HUMAN	LAMB3	HGNC	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	Q5THA1_HUMAN		10	1593	-			UPI000012E76F	401			Laminin EGF-like 3.		SNV	LAMB3,missense_variant,p.Cys401Trp,ENST00000391911,NM_001017402.1;LAMB3,missense_variant,p.Cys401Trp,ENST00000356082,NM_000228.2;LAMB3,missense_variant,p.Cys401Trp,ENST00000367030,NM_001127641.1;MIR4260,upstream_gene_variant,,ENST00000583107,;	uc001hhg.2	c.1203C>G	1338/4055	3	3			c.1203C>G						1	SNP	c.(1201-1203)TGC>TGG	13	13			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6	Broad	laminin, beta 3 precursor			209801465		0.642	ENSG00000196878	8454	g.chr1:209801465G>C	cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity							9.119234	KEEP	3	0	-1	5	4	3	0	-1	9.800873	5	4	0.25	1	0	0	0	0	1	0	0	0	--	--		0	C	OREG0014217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	LAMB3_uc009xco.2_Missense_Mutation_p.C401W|LAMB3_uc001hhh.2_Missense_Mutation_p.C401W|LAMB3_uc010psl.1_RNA	201	GBM-27-2523-TP	p.C401W	G	CATGCTCCTTGCACACACACT	NM_001017402	NP_001017402	209801465	Q13751	LAMB3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	10	1593	-	C	C			Missense_Mutation	401			Laminin EGF-like 3.			
LAMB3	3914		GRCh37	1	209796522	209796522	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000391911.1:c.2361C>A		p.X787_splice	ENST00000391911	NM_001017402.1	787	ctC/ctA	0																																																																																																																																																																																																																																												
LAMB4	22798	broad.mit.edu	GRCh37	7	107671256	107671256	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01	TCGA-06-0185-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388781.3:c.4987G>A	p.Glu1663Lys	p.E1663K	ENST00000388781	NM_007356.2	1663	Gag/Aag	0			1			T	E/K	uc010ljo.1	protein_coding		CCDS34732.1			4987/5286									ovary(4)|breast(2)|large_intestine(1)|skin(1)	8	c.(4987-4989)GAG>AAG			Coiled-coils_(Ncoils):Coil	laminin, beta 4 precursor				ENSP00000205386		32/34									COSM3411462	32/34	.		ENST00000205386	Transcript			cell adhesion	basement membrane		ENSG00000091128	g.chr7:107671256C>T	6491			MODERATE		1.24	low	getma.org/?cm=msa&ty=f&p=LAMB4_HUMAN&rb=1234&re=1759&var=E1663K	NA	getma.org/?cm=var&var=hg19,7,107671256,C,T&fts=all	E1663K	--	--	1																																		LAMB4_uc003vey.2_Missense_Mutation_p.E1663K|LAMB4_uc010ljp.1_Missense_Mutation_p.E632K	1			benign(0.005)	p.E1663K	NM_007356	NP_031382		tolerated(0.34)	1	LAMB4_HUMAN	LAMB4	HGNC	A4D0S4	LAMB4_HUMAN			C9JM08_HUMAN		32	5071	-			UPI0000198CD5	1663			Potential.|Domain I.		SNV	LAMB4,missense_variant,p.Glu1663Lys,ENST00000388781,NM_007356.2;LAMB4,missense_variant,p.Glu1663Lys,ENST00000205386,;LAMB4,missense_variant,p.Glu1663Lys,ENST00000388780,;LAMB4,missense_variant,p.Glu689Lys,ENST00000422975,;LAMB4,intron_variant,,ENST00000483484,;LAMB4,downstream_gene_variant,,ENST00000475572,;	uc010ljo.1	c.4987G>A	5067/5857	2	2			c.4987G>A						7	SNP	c.(4987-4989)GAG>AAG	25	25			ovary(4)|breast(2)|large_intestine(1)|skin(1)	8	Broad	laminin, beta 4 precursor			107671256		0.473	ENSG00000091128	8455	g.chr7:107671256C>T	cell adhesion	basement membrane								-85.792227	KEEP	4	6	-1	233	214	4	6	-1	13.350668	233	214	0.023018	1	0	0	0	0	1	0	0	0	--	--		0	T			LAMB4_uc003vey.2_Missense_Mutation_p.E1663K|LAMB4_uc010ljp.1_Missense_Mutation_p.E632K	40	GBM-06-0185-TP	p.E1663K	C	ATGACCTTCTCAAGACTCCCA	NM_007356	NP_031382	107671256	A4D0S4	LAMB4_HUMAN	0			32	5071	-	T	T			Missense_Mutation	1663			Potential.|Domain I.			
LAMB4	22798	broad.mit.edu	GRCh37	7	107720190	107720190	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-06-0649-01	TCGA-06-0649-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388781.3:c.1743T>G	p.Val581=	p.V581=	ENST00000388781	NM_007356.2	581	gtT/gtG	0			1			C	V	uc010ljo.1	protein_coding		CCDS34732.1			1743/5286									ovary(4)|breast(2)|large_intestine(1)|skin(1)	8	c.(1741-1743)GTT>GTG			hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF256,PROSITE_profiles:PS51116	laminin, beta 4 precursor				ENSP00000205386		15/34									COSM3411466	15/34	.		ENST00000205386	Transcript			cell adhesion	basement membrane		ENSG00000091128	g.chr7:107720190A>C	6491			LOW								--	--	1																																		LAMB4_uc003vey.2_Silent_p.V581V	1				p.V581V	NM_007356	NP_031382			1	LAMB4_HUMAN	LAMB4	HGNC	A4D0S4	LAMB4_HUMAN			C9JM08_HUMAN		15	1827	-			UPI0000198CD5	581			Laminin IV type B.		SNV	LAMB4,synonymous_variant,p.=,ENST00000388781,NM_007356.2;LAMB4,synonymous_variant,p.=,ENST00000205386,;LAMB4,synonymous_variant,p.=,ENST00000388780,;LAMB4,synonymous_variant,p.=,ENST00000418464,;LAMB4,synonymous_variant,p.=,ENST00000414450,;LAMB4,non_coding_transcript_exon_variant,,ENST00000475469,;	uc010ljo.1	c.1743T>G	1823/5857	3	3			c.1743T>G						7	SNP	c.(1741-1743)GTT>GTG	1	1			ovary(4)|breast(2)|large_intestine(1)|skin(1)	8	Broad	laminin, beta 4 precursor			107720190		0.502	ENSG00000091128	8455	g.chr7:107720190A>C	cell adhesion	basement membrane								10.19864	KEEP	4	5	-1	30	31	4	5	-1	19.351831	30	31	0.112903	1	0	0	0	0	0	0	1	0	--	--		0	C			LAMB4_uc003vey.2_Silent_p.V581V	62	GBM-06-0649-TP	p.V581V	A	GCTCTCCTAAAACAACGTGAA	NM_007356	NP_031382	107720190	A4D0S4	LAMB4_HUMAN	0			15	1827	-	C	C			Silent	581			Laminin IV type B.			
LAMB4	0	broad.mit.edu	GRCh37	7	107706294	107706294	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01	TCGA-14-0813-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000205386.4:c.2749C>T	p.Pro917Ser	p.P917S	ENST00000205386		917	Ccc/Tcc	0			1			A	P/S	uc010ljo.1	protein_coding		CCDS34732.1			2749/5286									ovary(4)|breast(2)|large_intestine(1)|skin(1)	8	c.(2749-2751)CCC>TCC			SMART_domains:SM00180,Pfam_domain:PF00053,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF256,PROSITE_profiles:PS50027	laminin, beta 4 precursor				ENSP00000205386		21/34									COSM3411464	21/34	.		ENST00000205386	Transcript			cell adhesion	basement membrane		ENSG00000091128	g.chr7:107706294G>A	6491			MODERATE		1.75	low	getma.org/?cm=msa&ty=f&p=LAMB4_HUMAN&rb=911&re=967&var=P917S	NA	getma.org/?cm=var&var=hg19,7,107706294,G,A&fts=all	P917S	--	--	1																																		LAMB4_uc003vey.2_Missense_Mutation_p.P917S|LAMB4_uc010ljp.1_5'Flank	1			probably_damaging(0.993)	p.P917S	NM_007356	NP_031382		deleterious(0)	1	LAMB4_HUMAN	LAMB4	HGNC	A4D0S4	LAMB4_HUMAN			C9JM08_HUMAN		21	2833	-			UPI0000198CD5	917			Laminin EGF-like 9.		SNV	LAMB4,missense_variant,p.Pro917Ser,ENST00000388781,NM_007356.2;LAMB4,missense_variant,p.Pro917Ser,ENST00000205386,;LAMB4,missense_variant,p.Pro917Ser,ENST00000388780,;LAMB4,upstream_gene_variant,,ENST00000422975,;LAMB4,non_coding_transcript_exon_variant,,ENST00000475469,;LAMB4,non_coding_transcript_exon_variant,,ENST00000471677,;	uc010ljo.1	c.2749C>T	2829/5857	2	2			c.2749C>T						7	SNP	c.(2749-2751)CCC>TCC	34	34			ovary(4)|breast(2)|large_intestine(1)|skin(1)	8	Broad	laminin, beta 4 precursor			107706294		0.428	ENSG00000091128	8455	g.chr7:107706294G>A	cell adhesion	basement membrane								-1.211537	KEEP	12	11	-1	132	113	12	11	-1	42.532407	132	113	0.081633	1	0	0	0	0	1	0	0	0	--	--		0	A			LAMB4_uc003vey.2_Missense_Mutation_p.P917S|LAMB4_uc010ljp.1_5'Flank	138	GBM-14-0813-TP	p.P917S	G	TTGCTTGAGGGATCATCTGGA	NM_007356	NP_031382	107706294	A4D0S4	LAMB4_HUMAN	0			21	2833	-	A	A			Missense_Mutation	917			Laminin EGF-like 9.			
LAMB4	0	broad.mit.edu	GRCh37	7	107708521	107708521	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01	TCGA-19-2631-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000205386.4:c.2386G>A	p.Gly796Arg	p.G796R	ENST00000205386		796	Ggg/Agg	0		T:0.0008	1	T:0		T	G/R	uc010ljo.1	protein_coding		CCDS34732.1			2386/5286									ovary(4)|breast(2)|large_intestine(1)|skin(1)	8	c.(2386-2388)GGG>AGG			Superfamily_domains:SSF57196,SMART_domains:SM00180,Pfam_domain:PF00053,Gene3D:2.10.25.10,PROSITE_patterns:PS01248,PROSITE_patterns:PS00022,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF256,PROSITE_profiles:PS50027	laminin, beta 4 precursor		T:0		ENSP00000205386	T:0	19/34	3.29E-05	0.000192				3.00E-05			rs544784448,COSM3411465	19/34	.		ENST00000205386	Transcript		T:0.0002	cell adhesion	basement membrane		ENSG00000091128	g.chr7:107708521C>T	6491			MODERATE		3.41	medium	getma.org/?cm=msa&ty=f&p=LAMB4_HUMAN&rb=769&re=814&var=G796R	getma.org/pdb.php?prot=LAMB4_HUMAN&from=769&to=814&var=G796R	getma.org/?cm=var&var=hg19,7,107708521,C,T&fts=all	G796R	--	--	1																																		LAMB4_uc003vey.2_Missense_Mutation_p.G796R	0,1			probably_damaging(0.996)	p.G796R	NM_007356	NP_031382	T:0	deleterious(0)	0,1	LAMB4_HUMAN	LAMB4	HGNC	A4D0S4	LAMB4_HUMAN			C9JM08_HUMAN		19	2470	-			UPI0000198CD5	796			Laminin EGF-like 6.		SNV	LAMB4,missense_variant,p.Gly796Arg,ENST00000388781,NM_007356.2;LAMB4,missense_variant,p.Gly796Arg,ENST00000205386,;LAMB4,missense_variant,p.Gly796Arg,ENST00000388780,;LAMB4,upstream_gene_variant,,ENST00000422975,;LAMB4,non_coding_transcript_exon_variant,,ENST00000475469,;LAMB4,upstream_gene_variant,,ENST00000471677,;	uc010ljo.1	c.2386G>A	2466/5857	1	1			c.2386G>A						7	SNP	c.(2386-2388)GGG>AGG	1	1			ovary(4)|breast(2)|large_intestine(1)|skin(1)	8	Broad	laminin, beta 4 precursor			107708521		0.567	ENSG00000091128	8455	g.chr7:107708521C>T	cell adhesion	basement membrane								-74.737443	KEEP	1	7	-1	175	205	1	7	-1	12.45708	175	205	0.020649	1	0	0	0	0	1	0	0	0	--	--		0	T			LAMB4_uc003vey.2_Missense_Mutation_p.G796R	167	GBM-19-2631-TP	p.G796R	C	CAGCAGCGCCCGACCACAAGA	NM_007356	NP_031382	107708521	A4D0S4	LAMB4_HUMAN	0			19	2470	-	T	T			Missense_Mutation	796			Laminin EGF-like 6.			
LAMB4	0	broad.mit.edu	GRCh37	7	107703420	107703420	+	synonymous_variant	Silent	SNP	G	G	A	rs144037364	byFrequency	TCGA-32-2495-01	TCGA-32-2495-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000205386.4:c.3081C>T	p.Ser1027=	p.S1027=	ENST00000205386		1027	tcC/tcT	0	A:0.0002	A:0.0008	1	A:0		A	S	uc010ljo.1	protein_coding		CCDS34732.1			3081/5286									ovary(4)|breast(2)|large_intestine(1)|skin(1)	8	c.(3079-3081)TCC>TCT			SMART_domains:SM00180,Pfam_domain:PF00053,Gene3D:2.10.25.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF256,PROSITE_profiles:PS50027	laminin, beta 4 precursor		A:0	A:0.001	ENSP00000205386	A:0	23/34	0.000264	0.000203	0.000267			0.00036	0.00123		rs144037364,COSM3411463	23/34	.		ENST00000205386	Transcript		A:0.0002	cell adhesion	basement membrane		ENSG00000091128	g.chr7:107703420G>A	6491			LOW								--	--	1																																		LAMB4_uc003vey.2_Silent_p.S1027S|LAMB4_uc010ljp.1_5'UTR	0,1				p.S1027S	NM_007356	NP_031382	A:0		0,1	LAMB4_HUMAN	LAMB4	HGNC	A4D0S4	LAMB4_HUMAN			C9JM08_HUMAN		23	3165	-			UPI0000198CD5	1027			Laminin EGF-like 11.		SNV	LAMB4,synonymous_variant,p.=,ENST00000388781,NM_007356.2;LAMB4,synonymous_variant,p.=,ENST00000205386,;LAMB4,synonymous_variant,p.=,ENST00000388780,;LAMB4,synonymous_variant,p.=,ENST00000422975,;LAMB4,non_coding_transcript_exon_variant,,ENST00000475469,;LAMB4,non_coding_transcript_exon_variant,,ENST00000471677,;	uc010ljo.1	c.3081C>T	3161/5857	2	2			c.3081C>T						7	SNP	c.(3079-3081)TCC>TCT	32	32			ovary(4)|breast(2)|large_intestine(1)|skin(1)	8	Broad	laminin, beta 4 precursor			107703420		0.517	ENSG00000091128	8455	g.chr7:107703420G>A	cell adhesion	basement membrane								-5.023598	KEEP	3	0	-1	23	40	3	0	-1	7.029347	23	40	0.052632	1	0	0	0	0	0	0	1	0	--	--		0	A			LAMB4_uc003vey.2_Silent_p.S1027S|LAMB4_uc010ljp.1_5'UTR	237	GBM-32-2495-TP	p.S1027S	G	GACTCACGCCGGAAGCATGGC	NM_007356	NP_031382	107703420	A4D0S4	LAMB4_HUMAN	0			23	3165	-	A	A			Silent	1027			Laminin EGF-like 11.			
LAMC1	0	broad.mit.edu	GRCh37	1	183111900	183111900	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-2494-01	TCGA-32-2494-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258341.4:c.4805A>G	p.Asn1602Ser	p.N1602S	ENST00000258341	NM_002293.3	1602	aAc/aGc	0			1			G	N/S	uc001gpy.3	protein_coding	YES	CCDS1351.1			4805/4830									ovary(3)|large_intestine(1)|kidney(1)	5	c.(4804-4806)AAC>AGC			hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF228	laminin, gamma 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)			ENSP00000258341		28/28									COSM3400077	28/28	.		ENST00000258341	Transcript			axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	ENSG00000135862	g.chr1:183111900A>G	6492			MODERATE		1.295	low	getma.org/?cm=msa&ty=f&p=LAMC1_HUMAN&rb=1513&re=1609&var=N1602S	NA	getma.org/?cm=var&var=hg19,1,183111900,A,G&fts=all	N1602S	--	--	1																																			1	1		probably_damaging(0.996)	p.N1602S	NM_002293	NP_002284		deleterious(0.02)	1	LAMC1_HUMAN	LAMC1	HGNC	P11047	LAMC1_HUMAN			R4GNC7_HUMAN		28	5062	+			UPI000013CFC7	1602			Potential.|Domain II and I.		SNV	LAMC1,missense_variant,p.Asn1602Ser,ENST00000258341,NM_002293.3;RP11-181K3.4,upstream_gene_variant,,ENST00000457852,;LAMC1,downstream_gene_variant,,ENST00000495918,;	uc001gpy.3	c.4805A>G	5062/7889	3	3			c.4805A>G						1	SNP	c.(4804-4806)AAC>AGC	7	7			ovary(3)|large_intestine(1)|kidney(1)	5	Broad	laminin, gamma 1 precursor		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	183111900		0.527	ENSG00000135862	8456	g.chr1:183111900A>G	axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent							50.901309	KEEP	11	17	-1	61	68	11	17	-1	63.727583	61	68	0.169355	1	0	0	0	0	1	0	0	0	--	--		0	G				236	GBM-32-2494-TP	p.N1602S	A	GGCTGCTTCAACACCCCGTCC	NM_002293	NP_002284	183111900	P11047	LAMC1_HUMAN	0			28	5062	+	G	G			Missense_Mutation	1602			Potential.|Domain II and I.			
LAMC1	3915		GRCh37	1	183087214	183087214	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000258341.4:c.1923T>C	p.Pro641=	p.P641=	ENST00000258341	NM_002293.3	641	ccT/ccC	0																																																																																																																																																																																																																																												
LAMC2	3918	broad.mit.edu	GRCh37	1	183177131	183177131	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6389-01	TCGA-06-6389-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264144.4:c.195C>T	p.Cys65=	p.C65=	ENST00000264144	NM_005562.2	65	tgC/tgT	0			1			T	C	uc001gqa.2	protein_coding	YES	CCDS1352.1			195/3582									skin(2)|ovary(1)	3	c.(193-195)TGC>TGT			Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF79,SMART_domains:SM00180,Superfamily_domains:SSF57196	laminin, gamma 2 isoform a precursor				ENSP00000264144		23-Feb									COSM900775	23-Feb	.		ENST00000264144	Transcript	1		cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	ENSG00000058085	g.chr1:183177131C>T	6493			LOW								--	--	1																																		LAMC2_uc001gpz.3_Silent_p.C65C|LAMC2_uc010poa.1_5'UTR	1	1			p.C65C	NM_005562	NP_005553			1	LAMC2_HUMAN	LAMC2	HGNC	Q13753	LAMC2_HUMAN					2	509	+			UPI000013D4CA	65			Laminin EGF-like 1.		SNV	LAMC2,synonymous_variant,p.=,ENST00000264144,NM_005562.2;LAMC2,synonymous_variant,p.=,ENST00000493293,NM_018891.2;	uc001gqa.2	c.195C>T	260/5147	2	2			c.195C>T						1	SNP	c.(193-195)TGC>TGT	46	46			skin(2)|ovary(1)	3	Broad	laminin, gamma 2 isoform a precursor			183177131		0.493	ENSG00000058085	8457	g.chr1:183177131C>T	cell adhesion|epidermis development|hemidesmosome assembly		heparin binding							450.631848	KEEP	77	103	-1	129	142	77	103	-1	454.192147	129	142	0.396867	1	0	0	0	0	0	0	1	0	--	--		0	T			LAMC2_uc001gpz.3_Silent_p.C65C|LAMC2_uc010poa.1_5'UTR	105	GBM-06-6389-TP	p.C65C	C	GCATTCACTGCGAGAAGTGCA	NM_005562	NP_005553	183177131	Q13753	LAMC2_HUMAN	0			2	509	+	T	T			Silent	65			Laminin EGF-like 1.			
LAMC3	10319	broad.mit.edu	GRCh37	9	133927946	133927946	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs142796007	byFrequency	TCGA-06-0173-01	TCGA-06-0173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361069.4:c.1699G>A	p.Gly567Arg	p.G567R	ENST00000361069	NM_006059.3	567	Ggg/Agg	0	A:0.0002		1			A	G/R	uc004caa.1	protein_coding	YES	CCDS6938.1			1699/4728									ovary(2)|pancreas(1)	3	c.(1699-1701)GGG>AGG			Pfam_domain:PF00052,PROSITE_profiles:PS51115,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF240,SMART_domains:SM00281	laminin, gamma 3 precursor			A:0.0002	ENSP00000354360		28-Oct	0.000231	0.000292		0.000231	0.000454	0.00021		0.000363	rs142796007,COSM2150377	28-Oct	common_variant		ENST00000361069	Transcript	1		cell adhesion	basement membrane|membrane	structural molecule activity	ENSG00000050555	g.chr9:133927946G>A	6494			MODERATE		1.32	low	getma.org/?cm=msa&ty=f&p=LAMC3_HUMAN&rb=540&re=671&var=G567R	NA	getma.org/?cm=var&var=hg19,9,133927946,G,A&fts=all	G567R	--	--	1																																OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		0,1	1		benign(0.036)	p.G567R	NM_006059	NP_006050		tolerated(0.4)	0,1	LAMC3_HUMAN	LAMC3	HGNC	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	Q5JTC4_HUMAN		10	1797	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	UPI000013D6D3	567			Laminin IV type A.		SNV	LAMC3,missense_variant,p.Gly567Arg,ENST00000361069,NM_006059.3;LAMC3,intron_variant,,ENST00000480883,;	uc004caa.1	c.1699G>A	1832/6133	2	2			c.1699G>A						9	SNP	c.(1699-1701)GGG>AGG	24	24			ovary(2)|pancreas(1)	3	Broad	laminin, gamma 3 precursor			133927946		0.622	ENSG00000050555	8458	g.chr9:133927946G>A	cell adhesion	basement membrane|membrane	structural molecule activity							142.633372	KEEP	29	26	-1	56	34	29	26	-1	143.939694	56	34	0.38843	1	0	0	0	0	1	0	0	0	--	--		0	A	OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		36	GBM-06-0173-TP	p.G567R	G	GGTGCCCCCCGGGGACTCCCC	NM_006059	NP_006050	133927946	Q9Y6N6	LAMC3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	10	1797	+	A	A	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	Missense_Mutation	567			Laminin IV type A.			
LAMC3	0	broad.mit.edu	GRCh37	9	133942520	133942520	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01	TCGA-12-0616-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361069.4:c.2521G>A	p.Asp841Asn	p.D841N	ENST00000361069	NM_006059.3	841	Gac/Aac	0			1			A	D/N	uc004caa.1	protein_coding	YES	CCDS6938.1			2521/4728									ovary(2)|pancreas(1)	3	c.(2521-2523)GAC>AAC			Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF240,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196	laminin, gamma 3 precursor				ENSP00000354360		14/28									COSM3413386	14/28	.		ENST00000361069	Transcript	1		cell adhesion	basement membrane|membrane	structural molecule activity	ENSG00000050555	g.chr9:133942520G>A	6494			MODERATE		1.4	low	getma.org/?cm=msa&ty=f&p=LAMC3_HUMAN&rb=810&re=863&var=D841N	getma.org/pdb.php?prot=LAMC3_HUMAN&from=810&to=863&var=D841N	getma.org/?cm=var&var=hg19,9,133942520,G,A&fts=all	D841N	--	--	1																																			1	1		possibly_damaging(0.493)	p.D841N	NM_006059	NP_006050		tolerated(0.42)	1	LAMC3_HUMAN	LAMC3	HGNC	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	Q5JTC4_HUMAN		14	2619	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	UPI000013D6D3	841			Laminin EGF-like 8.		SNV	LAMC3,missense_variant,p.Asp841Asn,ENST00000361069,NM_006059.3;LAMC3,intron_variant,,ENST00000480883,;	uc004caa.1	c.2521G>A	2654/6133	2	2			c.2521G>A						9	SNP	c.(2521-2523)GAC>AAC	21	21			ovary(2)|pancreas(1)	3	Broad	laminin, gamma 3 precursor			133942520		0.642	ENSG00000050555	8458	g.chr9:133942520G>A	cell adhesion	basement membrane|membrane	structural molecule activity							-7.938743	KEEP	5	5	-1	76	76	5	5	-1	17.272275	76	76	0.068702	1	0	0	0	0	1	0	0	0	--	--		0	A				118	GBM-12-0616-TP	p.D841N	G	CACCACGGGTGACCACTGTGA	NM_006059	NP_006050	133942520	Q9Y6N6	LAMC3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	14	2619	+	A	A	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	Missense_Mutation	841			Laminin EGF-like 8.			
LAMC3	0	broad.mit.edu	GRCh37	9	133948659	133948659	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361069.4:c.3445C>T	p.Pro1149Ser	p.P1149S	ENST00000361069	NM_006059.3	1149	Ccg/Tcg	0			1			T	P/S	uc004caa.1	protein_coding	YES	CCDS6938.1			3445/4728									ovary(2)|pancreas(1)	3	c.(3445-3447)CCG>TCG			hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF240	laminin, gamma 3 precursor				ENSP00000354360		20/28									COSM3413388	20/28	.		ENST00000361069	Transcript	1		cell adhesion	basement membrane|membrane	structural molecule activity	ENSG00000050555	g.chr9:133948659C>T	6494			MODERATE		2.075	medium	getma.org/?cm=msa&ty=f&p=LAMC3_HUMAN&rb=1083&re=1573&var=P1149S	NA	getma.org/?cm=var&var=hg19,9,133948659,C,T&fts=all	P1149S	--	--	1																																			1	1		benign(0.191)	p.P1149S	NM_006059	NP_006050		tolerated(0.06)	1	LAMC3_HUMAN	LAMC3	HGNC	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	Q5JTC4_HUMAN		20	3543	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	UPI000013D6D3	1149			Domain II and I.		SNV	LAMC3,missense_variant,p.Pro1149Ser,ENST00000361069,NM_006059.3;LAMC3,intron_variant,,ENST00000480883,;	uc004caa.1	c.3445C>T	3578/6133	2	2			c.3445C>T						9	SNP	c.(3445-3447)CCG>TCG	30	30			ovary(2)|pancreas(1)	3	Broad	laminin, gamma 3 precursor			133948659		0.582	ENSG00000050555	8458	g.chr9:133948659C>T	cell adhesion	basement membrane|membrane	structural molecule activity							-23.601378	KEEP	2	2	-1	61	79	2	2	-1	6.622034	61	79	0.031746	1	0	0	0	0	1	0	0	0	--	--		0	T				159	GBM-19-1390-TP	p.P1149S	C	TCCCAGTCAGCCGACCAAATG	NM_006059	NP_006050	133948659	Q9Y6N6	LAMC3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	20	3543	+	T	T	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	Missense_Mutation	1149			Domain II and I.			
LAMC3	10319		GRCh37	9	133927934	133927934	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000361069.4:c.1687C>T	p.Arg563Trp	p.R563W	ENST00000361069	NM_006059.3	563	Cgg/Tgg	0																																																																																																																																																																																																																																												
LAMP1	3916		GRCh37	13	113964010	113964010	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000332556.4:c.236C>A	p.Ser79Tyr	p.S79Y	ENST00000332556	NM_005561.3	79	tCc/tAc	0																																																																																																																																																																																																																																												
LAMP2	3920	broad.mit.edu	GRCh37	X	119580241	119580241	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-0213-01	TCGA-06-0213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000434600.2:c.783C>A	p.Ser261=	p.S261=	ENST00000434600	NM_001122606.1	261	tcC/tcA	0			1			T	S	uc004est.3	protein_coding		CCDS14599.1			783/1233									ovary(1)	1	c.(781-783)TCC>TCA			PROSITE_profiles:PS51407,hmmpanther:PTHR11506:SF6,hmmpanther:PTHR11506,Pfam_domain:PF01299	lysosomal-associated membrane protein 2 isoform				ENSP00000200639		9-Jun									COSM2150866,COSM2150865,COSM2150864	9-Jun	.		ENST00000200639	Transcript	1		platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane		ENSG00000005893	g.chrX:119580241G>T	6501			LOW								--	--	1																																		LAMP2_uc004ess.3_Silent_p.S261S|LAMP2_uc011mtz.1_Silent_p.S150S|LAMP2_uc011mua.1_Silent_p.S214S|LAMP2_uc010nqp.1_Silent_p.S261S	1,1,1				p.S261S	NM_002294	NP_002285			1,1,1	LAMP2_HUMAN	LAMP2	HGNC	P13473	LAMP2_HUMAN					6	963	-			UPI000012E789	261			Lumenal (Potential).|Second lumenal domain.		SNV	LAMP2,synonymous_variant,p.=,ENST00000371335,NM_013995.2;LAMP2,synonymous_variant,p.=,ENST00000434600,NM_001122606.1,NM_002294.2;LAMP2,synonymous_variant,p.=,ENST00000200639,;LAMP2,synonymous_variant,p.=,ENST00000540603,;LAMP2,synonymous_variant,p.=,ENST00000538785,;LAMP2,synonymous_variant,p.=,ENST00000486593,;	uc004est.3	c.783C>A	920/1867	2	2			c.783C>A						23	SNP	c.(781-783)TCC>TCA	41	41			ovary(1)	1	Broad	lysosomal-associated membrane protein 2 isoform			119580241		0.423	ENSG00000005893	8460	g.chrX:119580241G>T	platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane								86.660529	KEEP	17	20	0.459459459	41	53	17	20	0.459459459	89.541466	41	53	0.32	1	0	0	0	0	0	0	1	0	--	--		0	T			LAMP2_uc004ess.3_Silent_p.S261S|LAMP2_uc011mtz.1_Silent_p.S150S|LAMP2_uc011mua.1_Silent_p.S214S|LAMP2_uc010nqp.1_Silent_p.S261S	49	GBM-06-0213-TP	p.S261S	G	AGCTGCCTGTGGAGTGAGTTG	NM_002294	NP_002285	119580241	P13473	LAMP2_HUMAN	0			6	963	-	T	T			Silent	261			Lumenal (Potential).|Second lumenal domain.			
LAMP2	3920	broad.mit.edu	GRCh37	X	119565295	119565295	+	intron_variant	Intron	SNP	G	G	A			TCGA-06-2563-01	TCGA-06-2563-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000434600.2:c.1094-2814C>T		p.*365*	ENST00000434600	NM_001122606.1	372		0			1			A	D	uc004est.3	protein_coding		CCDS14599.1			1116/1233									ovary(1)	1	c.(1114-1116)GAC>GAT			PROSITE_profiles:PS51407,hmmpanther:PTHR11506:SF6,hmmpanther:PTHR11506,PROSITE_patterns:PS00311,Pfam_domain:PF01299,Prints_domain:PR00336	lysosomal-associated membrane protein 2 isoform				ENSP00000200639		9-Sep	8.24E-06					2.09E-05			rs749338632,COSM456631	9-Sep	.		ENST00000200639	Transcript	1		platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane		ENSG00000005893	g.chrX:119565295G>A	6501			LOW								--	--	1																																		LAMP2_uc004ess.3_Intron|LAMP2_uc011mtz.1_Intron	0,1				p.D372D	NM_002294	NP_002285			0,1	LAMP2_HUMAN	LAMP2	HGNC	P13473	LAMP2_HUMAN					9	1296	-			UPI000012E789	372			Lumenal (Potential).|Second lumenal domain.		SNV	LAMP2,synonymous_variant,p.=,ENST00000200639,;LAMP2,intron_variant,,ENST00000434600,NM_001122606.1,NM_002294.2;LAMP2,intron_variant,,ENST00000538785,;LAMP2,3_prime_UTR_variant,,ENST00000486593,;	uc004est.3	c.1116C>T	1253/1867	1	1			c.1116C>T						23	SNP	c.(1114-1116)GAC>GAT	54	54			ovary(1)	1	Broad	lysosomal-associated membrane protein 2 isoform			119565295		0.438	ENSG00000005893	8460	g.chrX:119565295G>A	platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane								373.07626	KEEP	81	63	-1	95	106	81	63	-1	374.532559	95	106	0.424138	1	0	0	0	0	0	0	1	0	--	--		0	A			LAMP2_uc004ess.3_Intron|LAMP2_uc011mtz.1_Intron	86	GBM-06-2563-TP	p.D372D	G	GGAAGTTGTCGTCATCTGCAC	NM_002294	NP_002285	119565295	P13473	LAMP2_HUMAN	0			9	1296	-	A	A			Silent	372			Lumenal (Potential).|Second lumenal domain.			
LAMP2	3920		GRCh37	X	119589247	119589247	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000434600.2:c.362G>T	p.Gly121Val	p.G121V	ENST00000434600	NM_001122606.1	121	gGt/gTt	0																																																																																																																																																																																																																																												
LAMP3	0	broad.mit.edu	GRCh37	3	182872086	182872086	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-41-4097-01	TCGA-41-4097-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265598.3:c.143T>C	p.Ile48Thr	p.I48T	ENST00000265598	NM_014398.3	48	aTa/aCa	0			1			G	I/T	uc003flh.3	protein_coding	YES	CCDS3242.1			143/1251								p.I48T(1)	ovary(2)|central_nervous_system(1)	3	c.(142-144)ATA>ACA			PROSITE_profiles:PS51407	lysosomal-associated membrane protein 3				ENSP00000265598		6-Feb									COSM71409	6-Feb	.		ENST00000265598	Transcript			cell proliferation	integral to membrane|lysosomal membrane		ENSG00000078081	g.chr3:182872086A>G	14582			MODERATE		-0.975	neutral	getma.org/?cm=msa&ty=f&p=LAMP3_HUMAN&rb=15&re=79&var=I48T	NA	getma.org/?cm=var&var=hg19,3,182872086,A,G&fts=all	I48T	--	--	1																																			1	1		benign(0)	p.I48T	NM_014398	NP_055213		tolerated(1)	1	LAMP3_HUMAN	LAMP3	HGNC	Q9UQV4	LAMP3_HUMAN	all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)		E7ETP9_HUMAN,C9JYP5_HUMAN,C9JDI8_HUMAN		2	367	-	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		UPI000006DB7A	48			Lumenal (Potential).		SNV	LAMP3,missense_variant,p.Ile48Thr,ENST00000265598,NM_014398.3;LAMP3,missense_variant,p.Ile24Thr,ENST00000466939,;LAMP3,missense_variant,p.Ile48Thr,ENST00000476015,;LAMP3,missense_variant,p.Ile24Thr,ENST00000470251,;LAMP3,downstream_gene_variant,,ENST00000486686,;	uc003flh.3	c.143T>C	399/3375	3	3			c.143T>C						3	SNP	c.(142-144)ATA>ACA	7	7		p.I48T(1)	ovary(2)|central_nervous_system(1)	3	Broad	lysosomal-associated membrane protein 3			182872086		0.428	ENSG00000078081	8461	g.chr3:182872086A>G	cell proliferation	integral to membrane|lysosomal membrane								316.810002	KEEP	38	68	-1	116	138	38	68	-1	328.836303	116	138	0.297872	1	0	0	0	0	1	0	0	0	--	--		0	G				257	GBM-41-4097-TP	p.I48T	A	AGGTTTTTTTATGTCCTGTAC	NM_014398	NP_055213	182872086	Q9UQV4	LAMP3_HUMAN	0	all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)		2	367	-	G	G	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		Missense_Mutation	48			Lumenal (Potential).			
LAMP3	0	broad.mit.edu	GRCh37	3	182870190	182870190	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4928-01	TCGA-76-4928-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265598.3:c.861C>T	p.Gly287=	p.G287=	ENST00000265598	NM_014398.3	287	ggC/ggT	0	A:0.0002	A:0	1	A:0		A	G	uc003flh.3	protein_coding	YES	CCDS3242.1			861/1251									ovary(2)|central_nervous_system(1)	3	c.(859-861)GGC>GGT			PROSITE_profiles:PS51407,hmmpanther:PTHR11506,hmmpanther:PTHR11506:SF30,Pfam_domain:PF01299	lysosomal-associated membrane protein 3		A:0	A:0.0001	ENSP00000265598	A:0	6-Mar	9.06E-05		0.000173			4.52E-05		0.000384	rs369565285,COSM3408460	6-Mar	.		ENST00000265598	Transcript		A:0.0002	cell proliferation	integral to membrane|lysosomal membrane		ENSG00000078081	g.chr3:182870190G>A	14582			LOW								--	--	1																																			0,1	1			p.G287G	NM_014398	NP_055213	A:0.001		0,1	LAMP3_HUMAN	LAMP3	HGNC	Q9UQV4	LAMP3_HUMAN	all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)		E7ETP9_HUMAN,C9JYP5_HUMAN,C9JDI8_HUMAN		3	1085	-	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		UPI000006DB7A	287			Lumenal (Potential).		SNV	LAMP3,synonymous_variant,p.=,ENST00000265598,NM_014398.3;LAMP3,synonymous_variant,p.=,ENST00000466939,;LAMP3,downstream_gene_variant,,ENST00000476015,;LAMP3,downstream_gene_variant,,ENST00000470251,;	uc003flh.3	c.861C>T	1117/3375	1	1			c.861C>T						3	SNP	c.(859-861)GGC>GGT	55	55			ovary(2)|central_nervous_system(1)	3	Broad	lysosomal-associated membrane protein 3			182870190		0.512	ENSG00000078081	8461	g.chr3:182870190G>A	cell proliferation	integral to membrane|lysosomal membrane								69.279097	KEEP	26	24	-1	130	139	26	24	-1	103.075985	130	139	0.154882	1	0	0	0	0	0	0	1	0	--	--		0	A				268	GBM-76-4928-TP	p.G287G	G	TCACAAATCCGCCCTGAAAAT	NM_014398	NP_055213	182870190	Q9UQV4	LAMP3_HUMAN	0	all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)		3	1085	-	A	A	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		Silent	287			Lumenal (Potential).			
LAMP3	27074		GRCh37	3	182871533	182871533	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000265598.3:c.696C>T	p.Asn232=	p.N232=	ENST00000265598	NM_014398.3	232	aaC/aaT	0																																																																																																																																																																																																																																												
LAMTOR2	0	broad.mit.edu	GRCh37	1	156025122	156025122	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2499-01	TCGA-28-2499-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368305.4:c.137C>T	p.Ala46Val	p.A46V	ENST00000368305	NM_014017.3	46	gCt/gTt	0			1			T	A/V	uc001fnb.3	protein_coding	YES	CCDS1128.1			137/378										0	c.(136-138)GCT>GTT			hmmpanther:PTHR13323,Gene3D:3.30.450.30,Pfam_domain:PF03259,SMART_domains:SM00960,Superfamily_domains:SSF103196	roadblock domain-containing protein 3 isoform 1				ENSP00000357288		4-Feb									COSM3399804,COSM3399805	4-Feb	.		ENST00000368305	Transcript	1		cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosomal membrane|Ragulator complex		ENSG00000116586	g.chr1:156025122C>T	29796			MODERATE		2.825	medium	getma.org/?cm=msa&ty=f&p=LTOR2_HUMAN&rb=5&re=95&var=A46V	getma.org/pdb.php?prot=LTOR2_HUMAN&from=5&to=95&var=A46V	getma.org/?cm=var&var=hg19,1,156025122,C,T&fts=all	A46V	--	--	1																																		UBQLN4_uc001fna.2_5'Flank|UBQLN4_uc010pgx.1_5'Flank|ROBLD3_uc010pgy.1_Missense_Mutation_p.A46V	1,1	1		possibly_damaging(0.833)	p.A46V	NM_014017	NP_054736		deleterious(0)	1,1	LTOR2_HUMAN	LAMTOR2	HGNC	Q9Y2Q5	LTOR2_HUMAN					2	301	+			UPI000012E762	46					SNV	LAMTOR2,missense_variant,p.Ala46Val,ENST00000368305,NM_014017.3;LAMTOR2,missense_variant,p.Ala46Val,ENST00000368302,;LAMTOR2,missense_variant,p.Ala46Val,ENST00000368304,NM_001145264.1;UBQLN4,upstream_gene_variant,,ENST00000368309,NM_020131.3;LAMTOR2,non_coding_transcript_exon_variant,,ENST00000489664,;LAMTOR2,non_coding_transcript_exon_variant,,ENST00000487106,;UBQLN4,upstream_gene_variant,,ENST00000472638,;LAMTOR2,upstream_gene_variant,,ENST00000463371,;	uc001fnb.3	c.137C>T	275/655	1	1			c.137C>T						1	SNP	c.(136-138)GCT>GTT	1	1				0	Broad	roadblock domain-containing protein 3 isoform 1			156025122		0.572	ENSG00000116586	13293	g.chr1:156025122C>T	cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosomal membrane|Ragulator complex								-5.630725	KEEP	3	5	-1	79	56	3	5	-1	13.249164	79	56	0.063158	1	0	0	0	0	1	0	0	0	--	--		0	T			UBQLN4_uc001fna.2_5'Flank|UBQLN4_uc010pgx.1_5'Flank|ROBLD3_uc010pgy.1_Missense_Mutation_p.A46V	208	GBM-28-2499-TP	p.A46V	C	CGGGTCACCGCTGCCATAGCC	NM_014017	NP_054736	156025122	Q9Y2Q5	LTOR2_HUMAN	0			2	301	+	T	T			Missense_Mutation	46						
LAMTOR3	0	broad.mit.edu	GRCh37	4	100805284	100805284	+	splice_acceptor_variant	Splice_Site	SNP	T	T	G			TCGA-76-4925-01	TCGA-76-4925-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000499666.2:c.238-2A>C		p.X80_splice	ENST00000499666	NM_001243736.1			0			1			G		uc003hvg.2	protein_coding	YES	CCDS3652.1			238/375										0	c.e6-1				MAPK scaffold protein 1				ENSP00000424183											COSM2157511		.		ENST00000499666	Transcript			cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	Ragulator complex	protein binding	ENSG00000109270	g.chr4:100805284T>G	15606			HIGH	6-May							--	--	1																																		MAPKSP1_uc003hvi.2_Splice_Site|MAPKSP1_uc003hvh.2_Splice_Site_p.V73_splice	1	1			p.V80_splice	NM_021970	NP_068805			1	LTOR3_HUMAN	LAMTOR3	HGNC	Q9UHA4	LTOR3_HUMAN					6	487	-			UPI000012F194						SNV	LAMTOR3,splice_acceptor_variant,,ENST00000499666,NM_001243736.1,NM_021970.3;LAMTOR3,splice_acceptor_variant,,ENST00000226522,;LAMTOR3,splice_acceptor_variant,,ENST00000515100,;	uc003hvg.2	c.238_splice	-/4226	5	4			c.238_splice						4	SNP	c.e6-1	17	17				0	Broad	MAPK scaffold protein 1			100805284		0.308	ENSG00000109270	9120	g.chr4:100805284T>G	cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	Ragulator complex	protein binding							110.320385	KEEP	23	11	-1	20	26	23	11	-1	110.518836	20	26	0.442857	1	0	0	0	0	0	0	0	1	--	--		0	G			MAPKSP1_uc003hvi.2_Splice_Site|MAPKSP1_uc003hvh.2_Splice_Site_p.V73_splice	265	GBM-76-4925-TP	p.V80_splice	T	TTGAACCACCTAAAAAGAAAA	NM_021970	NP_068805	100805284	Q9UHA4	LTOR3_HUMAN	0			6	487	-	G	G			Splice_Site							
LANCL2	55915		GRCh37	7	55467774	55467774	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000254770.2:c.655G>A	p.Val219Met	p.V219M	ENST00000254770	NM_018697.3	219	Gtg/Atg	0																																																																																																																																																																																																																																												
LAPTM4A	0	broad.mit.edu	GRCh37	2	20240757	20240757	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-27-2518-01	TCGA-27-2518-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000175091.4:c.127A>T	p.Met43Leu	p.M43L	ENST00000175091	NM_014713.4	43	Atg/Ttg	0			1			A	M/L	uc002rdm.2	protein_coding	YES	CCDS1696.1			127/702									ovary(1)	1	c.(127-129)ATG>TTG			Pfam_domain:PF03821,hmmpanther:PTHR12479,hmmpanther:PTHR12479:SF5,Transmembrane_helices:TMhelix	lysosomal protein transmembrane 4 alpha				ENSP00000175091		7-Feb									COSM2157282	7-Feb	.		ENST00000175091	Transcript			transport	endomembrane system|Golgi apparatus|integral to membrane		ENSG00000068697	g.chr2:20240757T>A	6924			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=LAP4A_HUMAN&rb=36&re=233&var=M43L	NA	getma.org/?cm=var&var=hg19,2,20240757,T,A&fts=all	M43L	--	--	1																																		LAPTM4A_uc002rdn.2_Missense_Mutation_p.M1L|LAPTM4A_uc010yjx.1_Missense_Mutation_p.M43L	1	1		benign(0.111)	p.M43L	NM_014713	NP_055528		deleterious(0.04)	1	LAP4A_HUMAN	LAPTM4A	HGNC	Q15012	LAP4A_HUMAN			Q6IBP4_HUMAN,Q53QZ6_HUMAN,Q4ZG00_HUMAN		2	635	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		UPI0000047513	43			Helical; (Potential).		SNV	LAPTM4A,missense_variant,p.Met43Leu,ENST00000175091,NM_014713.4;	uc002rdm.2	c.127A>T	635/1765	2	2			c.127A>T						2	SNP	c.(127-129)ATG>TTG	20	20			ovary(1)	1	Broad	lysosomal protein transmembrane 4 alpha			20240757		0.378	ENSG00000068697	8466	g.chr2:20240757T>A	transport	endomembrane system|Golgi apparatus|integral to membrane		Ovarian(90;1240 1386 7711 14384 46863)			Ovarian(90;1240 1386 7711 14384 46863)			187.480222	KEEP	38	34	-1	68	90	38	34	-1	192.859569	68	90	0.326733	1	0	0	0	0	1	0	0	0	--	--		0	A			LAPTM4A_uc002rdn.2_Missense_Mutation_p.M1L|LAPTM4A_uc010yjx.1_Missense_Mutation_p.M43L	198	GBM-27-2518-TP	p.M43L	T	AAAATTGCCATCAATAGGTTT	NM_014713	NP_055528	20240757	Q15012	LAP4A_HUMAN	0			2	635	-	A	A	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Missense_Mutation	43			Helical; (Potential).			
LAPTM4B	0	broad.mit.edu	GRCh37	8	98863639	98863639	+	synonymous_variant	Silent	SNP	G	G	A	rs147233429		TCGA-26-1442-01	TCGA-26-1442-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000445593.2:c.891G>A	p.Pro297=	p.P297=	ENST00000445593	NM_018407.4	297	ccG/ccA	0	T:0.0005	T:0	1	T:0		A	P	uc003yia.2	protein_coding	YES	CCDS6275.1			891/954									skin(1)	1	c.(889-891)CCG>CCA			Pfam_domain:PF03821,hmmpanther:PTHR12479,hmmpanther:PTHR12479:SF6	lysosomal associated transmembrane protein 4		T:0.006	T:0	ENSP00000402301	T:0	7-Jul	4.12E-05			0.000347				0.000121	rs147233429,COSM2792330	7-Jul	.		ENST00000445593	Transcript		T:0.0012	transport	endomembrane system|integral to membrane	protein binding	ENSG00000104341	g.chr8:98863639G>A	13646			LOW								--	--	1																																		LAPTM4B_uc010mbg.2_Silent_p.P129P	0,1	1			p.P297P	NM_018407	NP_060877	T:0		0,1	LAP4B_HUMAN	LAPTM4B	HGNC	Q86VI4	LAP4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.149)		Q86SJ0_HUMAN		7	1047	+	Breast(36;1.59e-06)		UPI000018F5E2	350					SNV	LAPTM4B,synonymous_variant,p.=,ENST00000445593,NM_018407.4;LAPTM4B,synonymous_variant,p.=,ENST00000521545,;KB-1589B1.4,downstream_gene_variant,,ENST00000603405,;	uc003yia.2	c.891G>A	1571/3173	2	2			c.891G>A						8	SNP	c.(889-891)CCG>CCA	26	26			skin(1)	1	Broad	lysosomal associated transmembrane protein 4			98863639		0.527	ENSG00000104341	8467	g.chr8:98863639G>A	transport	endomembrane system|integral to membrane	protein binding							0.69924	KEEP	4	0	-1	17	17	4	0	-1	7.048784	17	17	0.083333	1	0	0	0	0	0	0	1	0	--	--		0	A			LAPTM4B_uc010mbg.2_Silent_p.P129P	180	GBM-26-1442-TP	p.P297P	G	TGCTACCCCCGTATGATGATG	NM_018407	NP_060877	98863639	Q86VI4	LAP4B_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;0.149)		7	1047	+	A	A	Breast(36;1.59e-06)		Silent	350						
LARGE	0	broad.mit.edu	GRCh37	22	34046457	34046457	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-14-2554-01	TCGA-14-2554-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354992.2:c.304T>A	p.Tyr102Asn	p.Y102N	ENST00000354992	NM_004737.4	102	Tac/Aac	0			1			T	Y/N	uc003and.3	protein_coding	YES	CCDS13912.1			304/2271									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(304-306)TAC>AAC				like-glycosyltransferase				ENSP00000347088		16-Apr									COSM3405640	16-Apr	.		ENST00000354992	Transcript	1		glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	ENSG00000133424	g.chr22:34046457A>T	6511			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=LARGE_HUMAN&rb=89&re=141&var=Y102N	NA	getma.org/?cm=var&var=hg19,22,34046457,A,T&fts=all	Y102N	--	--	1																																		LARGE_uc003ane.3_Missense_Mutation_p.Y102N|LARGE_uc010gwp.2_Missense_Mutation_p.Y102N|LARGE_uc011ame.1_Missense_Mutation_p.Y34N|LARGE_uc011amf.1_Missense_Mutation_p.Y102N	1	1		benign(0.051)	p.Y102N	NM_004737	NP_004728		tolerated_low_confidence(0.3)	1	LARGE_HUMAN	LARGE	HGNC	O95461	LARGE_HUMAN			B0QZ02_HUMAN,B0QZ01_HUMAN,B0QZ00_HUMAN,B0QYZ9_HUMAN,B0QYZ8_HUMAN		4	883	-		Lung NSC(1;0.219)	UPI000012E200	102			Lumenal (Potential).		SNV	LARGE,missense_variant,p.Tyr102Asn,ENST00000354992,NM_004737.4;LARGE,missense_variant,p.Tyr102Asn,ENST00000337431,;LARGE,missense_variant,p.Tyr102Asn,ENST00000397394,NM_133642.3;LARGE,missense_variant,p.Tyr102Asn,ENST00000402320,;LARGE,missense_variant,p.Tyr102Asn,ENST00000437602,;LARGE,missense_variant,p.Tyr102Asn,ENST00000413114,;LARGE,missense_variant,p.Tyr102Asn,ENST00000434071,;LARGE,missense_variant,p.Tyr102Asn,ENST00000430220,;LARGE,downstream_gene_variant,,ENST00000423375,;LARGE,downstream_gene_variant,,ENST00000432776,;LARGE,non_coding_transcript_exon_variant,,ENST00000462606,;LARGE,non_coding_transcript_exon_variant,,ENST00000494763,;	uc003and.3	c.304T>A	876/4409	2	2			c.304T>A						22	SNP	c.(304-306)TAC>AAC	32	32			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	like-glycosyltransferase			34046457		0.667	ENSG00000133424	8469	g.chr22:34046457A>T	glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	Colon(70;397 1175 4573 19089 45288)			Colon(70;397 1175 4573 19089 45288)			119.980767	KEEP	20	29	-1	58	52	20	29	-1	123.797598	58	52	0.320896	1	0	0	0	0	1	0	0	0	--	--		0	T			LARGE_uc003ane.3_Missense_Mutation_p.Y102N|LARGE_uc010gwp.2_Missense_Mutation_p.Y102N|LARGE_uc011ame.1_Missense_Mutation_p.Y34N|LARGE_uc011amf.1_Missense_Mutation_p.Y102N	150	GBM-14-2554-TP	p.Y102N	A	TCCATGGAGTAGGTCTTGGAG	NM_004737	NP_004728	34046457	O95461	LARGE_HUMAN	0			4	883	-	T	T		Lung NSC(1;0.219)	Missense_Mutation	102			Lumenal (Potential).			
LARP1	23367	broad.mit.edu	GRCh37	5	154169931	154169932	+	frameshift_variant	Frame_Shift_Del	DEL	GC	GC	-			TCGA-06-0221-01	TCGA-06-0221-01	GC	GC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336314.4:c.254_255del	p.Arg85GlnfsTer7	p.R85Qfs*7	ENST00000336314	NM_015315.4	84	caGCgc/cagc	0			1			-	QR/QX	uc003lvp.2	protein_coding	YES	CCDS4328.1			252-253/3060									ovary(2)|pancreas(1)|skin(1)	4	c.(481-486)CAGCGCfs			hmmpanther:PTHR22792,hmmpanther:PTHR22792:SF51,Low_complexity_(Seg):seg	la related protein isoform 2				ENSP00000336721		19-Feb										19-Feb	.		ENST00000336314	Transcript					protein binding|RNA binding	ENSG00000155506	g.chr5:154169931_154169932delGC	29531	2		HIGH								--	--	1																																		LARP1_uc003lvo.2_Frame_Shift_Del_p.Q84fs|LARP1_uc010jie.1_5'UTR		1			p.Q161fs	NM_033551	NP_291029				LARP1_HUMAN	LARP1	HGNC	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		E5RHK4_HUMAN,E5RH50_HUMAN		2	912_913	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	UPI00001DFE1B	161_162					deletion	LARP1,frameshift_variant,p.Arg85GlnfsTer7,ENST00000336314,NM_015315.4;LARP1,frameshift_variant,p.Arg162GlnfsTer7,ENST00000518297,;LARP1,frameshift_variant,p.Arg87GlnfsTer15,ENST00000517616,;LARP1,5_prime_UTR_variant,,ENST00000524248,;LARP1,5_prime_UTR_variant,,ENST00000519931,;LARP1,upstream_gene_variant,,ENST00000523163,;LARP1,upstream_gene_variant,,ENST00000518742,;LARP1,upstream_gene_variant,,ENST00000518194,;LARP1,downstream_gene_variant,,ENST00000518892,;LARP1,frameshift_variant,p.Arg24GlnfsTer7,ENST00000521577,;LARP1,upstream_gene_variant,,ENST00000518595,;	uc003lvp.2	c.483_484delGC	276-277/6595	5	5			c.483_484delGC						5	DEL	c.(481-486)CAGCGCfs	48	48			ovary(2)|pancreas(1)|skin(1)	4	Broad	la related protein isoform 2			154169932		0.52	ENSG00000155506	8470	g.chr5:154169931_154169932delGC			protein binding|RNA binding																				0.06	1	1	0	1	0	0	0	0	0	--	--		0	-			LARP1_uc003lvo.2_Frame_Shift_Del_p.Q84fs|LARP1_uc010jie.1_5'UTR	53	GBM-06-0221-TP	p.Q161fs	GC	TTCCTAAACAGCGCAAAGGCAG	NM_033551	NP_291029	154169931	Q6PKG0	LARP1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		2	912_913	+	-	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Frame_Shift_Del	161_162						
LARP1	0	broad.mit.edu	GRCh37	5	154188112	154188112	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-19-2620-01	TCGA-19-2620-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336314.4:c.2561T>A	p.Met854Lys	p.M854K	ENST00000336314	NM_015315.4	854	aTg/aAg	0			1			A	M/K	uc003lvp.2	protein_coding	YES	CCDS4328.1			2561/3060									ovary(2)|pancreas(1)|skin(1)	4	c.(2791-2793)ATG>AAG			hmmpanther:PTHR22792,hmmpanther:PTHR22792:SF51,SMART_domains:SM00684	la related protein isoform 2				ENSP00000336721		16/19									COSM3410028,COSM3410029	16/19	.		ENST00000336314	Transcript					protein binding|RNA binding	ENSG00000155506	g.chr5:154188112T>A	29531			MODERATE		3.215	medium	getma.org/?cm=msa&ty=f&p=LARP1_HUMAN&rb=484&re=1094&var=M931K	NA	getma.org/?cm=var&var=hg19,5,154188112,T,A&fts=all	M931K	--	--	1																																		LARP1_uc003lvo.2_Missense_Mutation_p.M854K	1,1	1		benign(0.409)	p.M931K	NM_033551	NP_291029		deleterious(0)	1,1	LARP1_HUMAN	LARP1	HGNC	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		E5RHK4_HUMAN,E5RH50_HUMAN		16	3221	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	UPI00001DFE1B	931					SNV	LARP1,missense_variant,p.Met854Lys,ENST00000336314,NM_015315.4;LARP1,downstream_gene_variant,,ENST00000518297,;LARP1,downstream_gene_variant,,ENST00000524248,;LARP1,downstream_gene_variant,,ENST00000518677,;LARP1,downstream_gene_variant,,ENST00000522272,;LARP1,non_coding_transcript_exon_variant,,ENST00000519194,;LARP1,upstream_gene_variant,,ENST00000524187,;	uc003lvp.2	c.2792T>A	2585/6595	1	1			c.2792T>A						5	SNP	c.(2791-2793)ATG>AAG	50	50			ovary(2)|pancreas(1)|skin(1)	4	Broad	la related protein isoform 2			154188112		0.532	ENSG00000155506	8470	g.chr5:154188112T>A			protein binding|RNA binding							66.756194	KEEP	18	7	-1	49	31	18	7	-1	71.860422	49	31	0.255319	1	0	0	0	0	1	0	0	0	--	--		0	A			LARP1_uc003lvo.2_Missense_Mutation_p.M854K	162	GBM-19-2620-TP	p.M931K	T	AACAAAAAGATGTATGAGGAG	NM_033551	NP_291029	154188112	Q6PKG0	LARP1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		16	3221	+	A	A	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Missense_Mutation	931						
LARP1	0	broad.mit.edu	GRCh37	5	154193504	154193504	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336314.4:c.2908G>A	p.Gly970Ser	p.G970S	ENST00000336314	NM_015315.4	970	Ggc/Agc	0	A:0.0002	A:0	1	A:0		A	G/S	uc003lvp.2	protein_coding	YES	CCDS4328.1			2908/3060									ovary(2)|pancreas(1)|skin(1)	4	c.(3139-3141)GGC>AGC			hmmpanther:PTHR22792,hmmpanther:PTHR22792:SF51,Low_complexity_(Seg):seg	la related protein isoform 2		A:0	A:0.0001	ENSP00000336721	A:0.001	19/19	0.000206	9.67E-05	0.000518			0.000256		6.06E-05	rs372005840,COSM3410030,COSM3410031	19/19	common_variant		ENST00000336314	Transcript		A:0.0002			protein binding|RNA binding	ENSG00000155506	g.chr5:154193504G>A	29531			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=LARP1_HUMAN&rb=484&re=1094&var=G1047S	NA	getma.org/?cm=var&var=hg19,5,154193504,G,A&fts=all	G1047S	--	--	1																																		LARP1_uc003lvo.2_Missense_Mutation_p.G970S	0,1,1	1		benign(0.001)	p.G1047S	NM_033551	NP_291029	A:0	tolerated(1)	0,1,1	LARP1_HUMAN	LARP1	HGNC	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		E5RHK4_HUMAN,E5RH50_HUMAN		19	3568	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	UPI00001DFE1B	1047			Poly-Gly.		SNV	LARP1,missense_variant,p.Gly970Ser,ENST00000336314,NM_015315.4;FAXDC2,downstream_gene_variant,,ENST00000326080,NM_032385.3;FAXDC2,downstream_gene_variant,,ENST00000423554,;LARP1,downstream_gene_variant,,ENST00000519194,;LARP1,downstream_gene_variant,,ENST00000524187,;	uc003lvp.2	c.3139G>A	2932/6595	2	2			c.3139G>A						5	SNP	c.(3139-3141)GGC>AGC	22	22			ovary(2)|pancreas(1)|skin(1)	4	Broad	la related protein isoform 2			154193504		0.637	ENSG00000155506	8470	g.chr5:154193504G>A			protein binding|RNA binding							-19.503345	KEEP	4	2	-1	57	68	4	2	-1	6.815266	57	68	0.035714	1	0	0	0	0	1	0	0	0	--	--		0	A			LARP1_uc003lvo.2_Missense_Mutation_p.G970S	190	GBM-27-1831-TP	p.G1047S	G	AGGAGGTGGCGGCGGTGAGGG	NM_033551	NP_291029	154193504	Q6PKG0	LARP1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		19	3568	+	A	A	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Missense_Mutation	1047			Poly-Gly.			
LARP1	23367		GRCh37	5	154135677	154135677	+	intron_variant	Intron	SNP	C	C	T			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000336314.4:c.206-34208C>T		p.*69*	ENST00000336314	NM_015315.4			0																																																																																																																																																																																																																																												
LARP1B	55132	broad.mit.edu	GRCh37	4	129003366	129003366	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-02-0033-01	TCGA-02-0033-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326639.6:c.264A>G	p.Ser88=	p.S88=	ENST00000326639	NM_018078.3	88	tcA/tcG	0			1			G	S	uc003iga.2	protein_coding	YES	CCDS3738.1			264/2745										0	c.(262-264)TCA>TCG			hmmpanther:PTHR22792,hmmpanther:PTHR22792:SF50	La ribonucleoprotein domain family member 2				ENSP00000321997		20-May									COSM3409050,COSM3409051	20-May	.		ENST00000326639	Transcript					RNA binding	ENSG00000138709	g.chr4:129003366A>G	24704			LOW								--	--	1																																		LARP1B_uc003ifw.1_Intron|LARP1B_uc003ifx.2_Silent_p.S88S|LARP1B_uc003ify.2_Silent_p.S88S|LARP1B_uc003ifz.1_Silent_p.S88S	1,1	1			p.S88S	NM_018078	NP_060548			1,1	LAR1B_HUMAN	LARP1B	HGNC	Q659C4	LAR1B_HUMAN					5	395	+			UPI0000190831	88					SNV	LARP1B,synonymous_variant,p.=,ENST00000326639,NM_018078.3;LARP1B,synonymous_variant,p.=,ENST00000441387,;LARP1B,synonymous_variant,p.=,ENST00000512292,;LARP1B,synonymous_variant,p.=,ENST00000432347,NM_032239.3;LARP1B,synonymous_variant,p.=,ENST00000394288,NM_001278604.1;LARP1B,synonymous_variant,p.=,ENST00000427266,NM_178043.2;LARP1B,synonymous_variant,p.=,ENST00000507377,;LARP1B,5_prime_UTR_variant,,ENST00000354456,;LARP1B,intron_variant,,ENST00000264584,;LARP1B,intron_variant,,ENST00000508819,;	uc003iga.2	c.264A>G	475/4891	3	3			c.264A>G						4	SNP	c.(262-264)TCA>TCG	52	52				0	Broad	La ribonucleoprotein domain family member 2			129003366		0.373	ENSG00000138709	8471	g.chr4:129003366A>G			RNA binding							-35.193825	KEEP	3	2	-1	84	95	3	2	-1	7.194775	84	95	0.028902	1	0	0	0	0	0	0	1	0	--	--		0	G			LARP1B_uc003ifw.1_Intron|LARP1B_uc003ifx.2_Silent_p.S88S|LARP1B_uc003ify.2_Silent_p.S88S|LARP1B_uc003ifz.1_Silent_p.S88S	2	GBM-02-0033-TP	p.S88S	A	TTGTAAGATCAGAGAGTCAAG	NM_018078	NP_060548	129003366	Q659C4	LAR1B_HUMAN	0			5	395	+	G	G			Silent	88						
LARP1B	55132	broad.mit.edu	GRCh37	4	128999066	128999066	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0184-01	TCGA-06-0184-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326639.6:c.166G>C	p.Gly56Arg	p.G56R	ENST00000326639	NM_018078.3	56	Ggt/Cgt	0			1			C	G/R	uc003iga.2	protein_coding	YES	CCDS3738.1			166/2745										0	c.(166-168)GGT>CGT			hmmpanther:PTHR22792,hmmpanther:PTHR22792:SF50	La ribonucleoprotein domain family member 2				ENSP00000321997		20-Apr									COSM3409048,COSM3409049	20-Apr	.		ENST00000326639	Transcript					RNA binding	ENSG00000138709	g.chr4:128999066G>C	24704			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=LAR1B_HUMAN&rb=1&re=194&var=G56R	NA	getma.org/?cm=var&var=hg19,4,128999066,G,C&fts=all	G56R	--	--	1																																		LARP1B_uc003ifw.1_Missense_Mutation_p.G56R|LARP1B_uc003ifx.2_Missense_Mutation_p.G56R|LARP1B_uc003ify.2_Missense_Mutation_p.G56R|LARP1B_uc003ifz.1_Missense_Mutation_p.G56R	1,1	1		benign(0.209)	p.G56R	NM_018078	NP_060548		deleterious(0.04)	1,1	LAR1B_HUMAN	LARP1B	HGNC	Q659C4	LAR1B_HUMAN					4	297	+			UPI0000190831	56					SNV	LARP1B,missense_variant,p.Gly56Arg,ENST00000326639,NM_018078.3;LARP1B,missense_variant,p.Gly56Arg,ENST00000441387,;LARP1B,missense_variant,p.Gly56Arg,ENST00000264584,;LARP1B,missense_variant,p.Gly56Arg,ENST00000512292,;LARP1B,missense_variant,p.Gly56Arg,ENST00000432347,NM_032239.3;LARP1B,missense_variant,p.Gly56Arg,ENST00000394288,NM_001278604.1;LARP1B,missense_variant,p.Gly56Arg,ENST00000508819,;LARP1B,missense_variant,p.Gly56Arg,ENST00000427266,NM_178043.2;LARP1B,missense_variant,p.Gly25Arg,ENST00000507377,;LARP1B,5_prime_UTR_variant,,ENST00000354456,;	uc003iga.2	c.166G>C	377/4891	3	3			c.166G>C						4	SNP	c.(166-168)GGT>CGT	12	12				0	Broad	La ribonucleoprotein domain family member 2			128999066		0.343	ENSG00000138709	8471	g.chr4:128999066G>C			RNA binding							22.637773	KEEP	5	11	-1	45	40	5	11	-1	33.200043	45	40	0.141176	1	0	0	0	0	1	0	0	0	--	--		0	C			LARP1B_uc003ifw.1_Missense_Mutation_p.G56R|LARP1B_uc003ifx.2_Missense_Mutation_p.G56R|LARP1B_uc003ify.2_Missense_Mutation_p.G56R|LARP1B_uc003ifz.1_Missense_Mutation_p.G56R	39	GBM-06-0184-TP	p.G56R	G	AAATGGTCCTGGTGAAAACGT	NM_018078	NP_060548	128999066	Q659C4	LAR1B_HUMAN	0			4	297	+	C	C			Missense_Mutation	56						
LARP4	113251	broad.mit.edu	GRCh37	12	50831593	50831593	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01	TCGA-06-1804-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398473.2:c.611G>A	p.Arg204Lys	p.R204K	ENST00000398473	NM_199188.2	204	aGa/aAa	0			1			A	R/K	uc001rwp.1	protein_coding	YES	CCDS41782.1			611/2175									ovary(1)	1	c.(610-612)AGA>AAA			hmmpanther:PTHR22792:SF48,hmmpanther:PTHR22792,Gene3D:3.30.70.330,Superfamily_domains:SSF54928	c-Mpl binding protein isoform a				ENSP00000381490		16-Jun									COSM2152495	16-Jun	.		ENST00000398473	Transcript					nucleotide binding|RNA binding	ENSG00000161813	g.chr12:50831593G>A	24320			MODERATE		2.835	medium	getma.org/?cm=msa&ty=f&p=LARP4_HUMAN&rb=203&re=281&var=R204K	NA	getma.org/?cm=var&var=hg19,12,50831593,G,A&fts=all	R204K	--	--	1																																		LARP4_uc001rwo.1_Missense_Mutation_p.R210K|LARP4_uc001rwq.1_Missense_Mutation_p.R204K|LARP4_uc001rwr.1_Missense_Mutation_p.R204K|LARP4_uc001rws.1_Missense_Mutation_p.R203K|LARP4_uc009zlr.1_Missense_Mutation_p.R23K|LARP4_uc001rwm.2_Missense_Mutation_p.R204K|LARP4_uc001rwn.2_Missense_Mutation_p.R134K	1	1		possibly_damaging(0.748)	p.R204K	NM_052879	NP_443111		deleterious(0)	1	LARP4_HUMAN	LARP4	HGNC	Q71RC2	LARP4_HUMAN			Q96J85_HUMAN,F8W1I4_HUMAN,F8VZ60_HUMAN,F8VXL0_HUMAN,F8VSA9_HUMAN,E5RJH8_HUMAN,E5RHZ8_HUMAN		6	755	+			UPI00002293C3	204			RRM.		SNV	LARP4,missense_variant,p.Arg204Lys,ENST00000398473,NM_199188.2,NM_052879.4;LARP4,missense_variant,p.Arg204Lys,ENST00000293618,NM_001170808.1,NM_001170803.1;LARP4,missense_variant,p.Arg210Lys,ENST00000429001,;LARP4,missense_variant,p.Arg204Lys,ENST00000347328,NM_199190.2;LARP4,missense_variant,p.Arg203Lys,ENST00000518444,;LARP4,missense_variant,p.Arg134Lys,ENST00000518561,;LARP4,missense_variant,p.Arg204Lys,ENST00000522085,NM_001170804.1;LARP4,upstream_gene_variant,,ENST00000520064,;LARP4,downstream_gene_variant,,ENST00000548993,;LARP4,downstream_gene_variant,,ENST00000551886,;LARP4,downstream_gene_variant,,ENST00000550260,;LARP4,downstream_gene_variant,,ENST00000517559,;LARP4,upstream_gene_variant,,ENST00000521120,;	uc001rwp.1	c.611G>A	723/6427	1	1			c.611G>A						12	SNP	c.(610-612)AGA>AAA	55	55			ovary(1)	1	Broad	c-Mpl binding protein isoform a			50831593		0.338	ENSG00000161813	8472	g.chr12:50831593G>A			nucleotide binding|RNA binding							71.077395	KEEP	15	11	-1	17	37	15	11	-1	72.488552	17	37	0.347826	1	0	0	0	0	1	0	0	0	--	--		0	A			LARP4_uc001rwo.1_Missense_Mutation_p.R210K|LARP4_uc001rwq.1_Missense_Mutation_p.R204K|LARP4_uc001rwr.1_Missense_Mutation_p.R204K|LARP4_uc001rws.1_Missense_Mutation_p.R203K|LARP4_uc009zlr.1_Missense_Mutation_p.R23K|LARP4_uc001rwm.2_Missense_Mutation_p.R204K|LARP4_uc001rwn.2_Missense_Mutation_p.R134K	79	GBM-06-1804-TP	p.R204K	G	GTAATTCTTAGAGAGATTCCT	NM_052879	NP_443111	50831593	Q71RC2	LARP4_HUMAN	0			6	755	+	A	A			Missense_Mutation	204			RRM.			
LARP4B	0	broad.mit.edu	GRCh37	10	882389	882389	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-2571-01	TCGA-41-2571-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316157.3:c.704G>A	p.Arg235His	p.R235H	ENST00000316157	NM_015155.2	235	cGc/cAc	0			1			T	R/H	uc001ifs.1	protein_coding	YES	CCDS31131.1			704/2217									ovary(2)|central_nervous_system(1)	3	c.(703-705)CGC>CAC			Superfamily_domains:SSF46785,Superfamily_domains:SSF54928,Gene3D:3.30.70.330,hmmpanther:PTHR22792,hmmpanther:PTHR22792:SF43,PROSITE_profiles:PS50961	La ribonucleoprotein domain family, member 4B				ENSP00000326128		17-Jul	8.24E-06					1.50E-05			rs770903779,COSM3397276	17-Jul	.		ENST00000316157	Transcript					nucleotide binding|RNA binding	ENSG00000107929	g.chr10:882389C>T	28987			MODERATE		2.9	medium	getma.org/?cm=msa&ty=f&p=LAR4B_HUMAN&rb=150&re=239&var=R235H	getma.org/pdb.php?prot=LAR4B_HUMAN&from=150&to=239&var=R235H	getma.org/?cm=var&var=hg19,10,882389,C,T&fts=all	R235H	--	--	1																																			0,1	1		probably_damaging(0.999)	p.R235H	NM_015155	NP_055970		deleterious(0.02)	0,1	LAR4B_HUMAN	LARP4B	HGNC	Q92615	LAR4B_HUMAN			B5MCU2_HUMAN		7	745	-			UPI00001F8C87	235			HTH La-type RNA-binding.		SNV	LARP4B,missense_variant,p.Arg235His,ENST00000316157,NM_015155.2;	uc001ifs.1	c.704G>A	745/5640	1	1			c.704G>A						10	SNP	c.(703-705)CGC>CAC	9	9			ovary(2)|central_nervous_system(1)	3	Broad	La ribonucleoprotein domain family, member 4B			882389		0.353	ENSG00000107929	8473	g.chr10:882389C>T			nucleotide binding|RNA binding							-22.310653	KEEP	3	1	-1	66	73	3	1	-1	7.059757	66	73	0.03252	1	0	0	0	0	1	0	0	0	--	--		0	T				250	GBM-41-2571-TP	p.R235H	C	TACTATGCAGCGATTTTGATT	NM_015155	NP_055970	882389	Q92615	LAR4B_HUMAN	0			7	745	-	T	T			Missense_Mutation	235			HTH La-type RNA-binding.			
LARP7	0	broad.mit.edu	GRCh37	4	113568448	113568448	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324052.6:c.740G>A	p.Ser247Asn	p.S247N	ENST00000324052	NM_015454.2	247	aGc/aAc	0			1			A	S/N	uc003iay.2	protein_coding		CCDS3701.2			740/1749									ovary(3)	3	c.(739-741)AGC>AAC			hmmpanther:PTHR22792,hmmpanther:PTHR22792:SF3	La ribonucleoprotein domain family, member 7				ENSP00000314311		13-Jul	8.27E-06					1.53E-05			rs746868176,COSM3409002	13-Jul	.		ENST00000324052	Transcript	1		RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding	ENSG00000174720	g.chr4:113568448G>A	24912			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=LARP7_HUMAN&rb=191&re=390&var=S247N	NA	getma.org/?cm=var&var=hg19,4,113568448,G,A&fts=all	S247N	--	--	1																																		LARP7_uc003iaz.2_Missense_Mutation_p.S254N|LARP7_uc003iba.2_Missense_Mutation_p.S168N|LARP7_uc003ibb.2_Missense_Mutation_p.S247N	0,1			benign(0.002)	p.S247N	NM_016648	NP_057732		tolerated(0.61)	0,1	LARP7_HUMAN	LARP7	HGNC	Q4G0J3	LARP7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000603)	D6RFF0_HUMAN,D6RF49_HUMAN,D6RAF3_HUMAN		7	1018	+		Ovarian(17;0.0443)|Hepatocellular(203;0.217)	UPI000020B343	247			Lys-rich.		SNV	LARP7,missense_variant,p.Ser254Asn,ENST00000509061,NM_001267039.1;LARP7,missense_variant,p.Ser247Asn,ENST00000344442,NM_016648.3;LARP7,missense_variant,p.Ser247Asn,ENST00000324052,NM_015454.2;LARP7,missense_variant,p.Ser247Asn,ENST00000505034,;LARP7,missense_variant,p.Ser28Asn,ENST00000511529,;LARP7,intron_variant,,ENST00000513553,;LARP7,downstream_gene_variant,,ENST00000507443,;LARP7,downstream_gene_variant,,ENST00000508577,;MIR302B,downstream_gene_variant,,ENST00000362188,;MIR302A,downstream_gene_variant,,ENST00000385192,;MIR367,downstream_gene_variant,,ENST00000362299,;MIR302C,downstream_gene_variant,,ENST00000362232,;MIR302D,downstream_gene_variant,,ENST00000362275,;MIR302B,intron_variant,,ENST00000510655,;MIR302B,intron_variant,,ENST00000509938,;MIR302B,intron_variant,,ENST00000505215,;LARP7,non_coding_transcript_exon_variant,,ENST00000503316,;LARP7,3_prime_UTR_variant,,ENST00000509622,;LARP7,downstream_gene_variant,,ENST00000512589,;LARP7,downstream_gene_variant,,ENST00000505216,;	uc003iay.2	c.740G>A	890/2157	1	1			c.740G>A						4	SNP	c.(739-741)AGC>AAC	50	50			ovary(3)	3	Broad	La ribonucleoprotein domain family, member 7			113568448		0.234	ENSG00000174720	8475	g.chr4:113568448G>A	RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding							-6.329255	KEEP	1	2	-1	31	28	1	2	-1	6.561372	31	28	0.05	1	0	0	0	0	1	0	0	0	--	--		0	A			LARP7_uc003iaz.2_Missense_Mutation_p.S254N|LARP7_uc003iba.2_Missense_Mutation_p.S168N|LARP7_uc003ibb.2_Missense_Mutation_p.S247N	159	GBM-19-1390-TP	p.S247N	G	agcaacaCCAGCATCAGTAAA	NM_016648	NP_057732	113568448	Q4G0J3	LARP7_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;0.000603)	7	1018	+	A	A		Ovarian(17;0.0443)|Hepatocellular(203;0.217)	Missense_Mutation	247			Lys-rich.			
LAS1L	81887	broad.mit.edu	GRCh37	X	64737941	64737941	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-5417-01	TCGA-06-5417-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374811.3:c.1853C>A	p.Pro618His	p.P618H	ENST00000374811	NM_031206.4	618	cCc/cAc	0			1			T	P/H	uc004dwa.1	protein_coding	YES	CCDS14381.1			1853/2205									ovary(3)|large_intestine(1)	4	c.(1852-1854)CCC>CAC			hmmpanther:PTHR15002	LAS1-like				ENSP00000363944		14-Dec									COSM2153295	14-Dec	.		ENST00000374811	Transcript	1			MLL1 complex|nucleolus	protein binding	ENSG00000001497	g.chrX:64737941G>T	25726			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=LAS1L_HUMAN&rb=434&re=733&var=P618H	NA	getma.org/?cm=var&var=hg19,X,64737941,G,T&fts=all	P618H	--	--	1																																		LAS1L_uc004dwc.1_Missense_Mutation_p.P601H|LAS1L_uc004dwd.1_Missense_Mutation_p.P559H|LAS1L_uc004dvy.1_Missense_Mutation_p.P131H|LAS1L_uc004dvz.1_Missense_Mutation_p.P131H	1	1		benign(0.364)	p.P618H	NM_031206	NP_112483		tolerated(0.53)	1	LAS1L_HUMAN	LAS1L	HGNC	Q9Y4W2	LAS1L_HUMAN			B3KNR6_HUMAN		12	1925	-			UPI0000073CB7	618					SNV	LAS1L,missense_variant,p.Pro618His,ENST00000374811,NM_031206.4;LAS1L,missense_variant,p.Pro601His,ENST00000374807,NM_001170649.1;LAS1L,missense_variant,p.Pro559His,ENST00000374804,NM_001170650.1;LAS1L,3_prime_UTR_variant,,ENST00000312391,;LAS1L,downstream_gene_variant,,ENST00000469091,;LAS1L,3_prime_UTR_variant,,ENST00000484069,;	uc004dwa.1	c.1853C>A	1894/2439	2	2			c.1853C>A						23	SNP	c.(1852-1854)CCC>CAC	47	47			ovary(3)|large_intestine(1)	4	Broad	LAS1-like			64737941		0.393	ENSG00000001497	8478	g.chrX:64737941G>T		MLL1 complex|nucleolus	protein binding							47.791131	KEEP	13	8	0.619047619	34	18	13	8	0.619047619	50.929259	34	18	0.275362	1	0	0	0	0	1	0	0	0	--	--		0	T			LAS1L_uc004dwc.1_Missense_Mutation_p.P601H|LAS1L_uc004dwd.1_Missense_Mutation_p.P559H|LAS1L_uc004dvy.1_Missense_Mutation_p.P131H|LAS1L_uc004dvz.1_Missense_Mutation_p.P131H	99	GBM-06-5417-TP	p.P618H	G	CTCGGCAGTGGGGGACTCTTG	NM_031206	NP_112483	64737941	Q9Y4W2	LAS1L_HUMAN	0			12	1925	-	T	T			Missense_Mutation	618						
LAS1L	0	broad.mit.edu	GRCh37	X	64744052	64744052	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-5139-01	TCGA-26-5139-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374811.3:c.1184C>T	p.Thr395Met	p.T395M	ENST00000374811	NM_031206.4	395	aCg/aTg	0			1			A	T/M	uc004dwa.1	protein_coding	YES	CCDS14381.1			1184/2205								p.T395T(1)	ovary(3)|large_intestine(1)	4	c.(1183-1185)ACG>ATG			hmmpanther:PTHR15002	LAS1-like				ENSP00000363944		14-Oct									COSM2157206	14-Oct	.		ENST00000374811	Transcript	1			MLL1 complex|nucleolus	protein binding	ENSG00000001497	g.chrX:64744052G>A	25726			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=LAS1L_HUMAN&rb=191&re=433&var=T395M	NA	getma.org/?cm=var&var=hg19,X,64744052,G,A&fts=all	T395M	--	--	1																																		LAS1L_uc004dwc.1_Missense_Mutation_p.T378M|LAS1L_uc004dwd.1_Missense_Mutation_p.T336M	1	1		benign(0.085)	p.T395M	NM_031206	NP_112483		deleterious(0.04)	1	LAS1L_HUMAN	LAS1L	HGNC	Q9Y4W2	LAS1L_HUMAN			B3KNR6_HUMAN		10	1256	-			UPI0000073CB7	395					SNV	LAS1L,missense_variant,p.Thr395Met,ENST00000374811,NM_031206.4;LAS1L,missense_variant,p.Thr378Met,ENST00000374807,NM_001170649.1;LAS1L,missense_variant,p.Thr336Met,ENST00000374804,NM_001170650.1;LAS1L,3_prime_UTR_variant,,ENST00000312391,;LAS1L,upstream_gene_variant,,ENST00000469091,;LAS1L,3_prime_UTR_variant,,ENST00000484069,;	uc004dwa.1	c.1184C>T	1225/2439	2	2			c.1184C>T						23	SNP	c.(1183-1185)ACG>ATG	29	29		p.T395T(1)	ovary(3)|large_intestine(1)	4	Broad	LAS1-like			64744052		0.567	ENSG00000001497	8478	g.chrX:64744052G>A		MLL1 complex|nucleolus	protein binding							61.081699	KEEP	18	13	-1	23	23	18	13	-1	61.890953	23	23	0.385714	1	0	0	0	0	1	0	0	0	--	--		0	A			LAS1L_uc004dwc.1_Missense_Mutation_p.T378M|LAS1L_uc004dwd.1_Missense_Mutation_p.T336M	186	GBM-26-5139-TP	p.T395M	G	TAGGGCCTGCGTGAAGTTCTG	NM_031206	NP_112483	64744052	Q9Y4W2	LAS1L_HUMAN	0			10	1256	-	A	A			Missense_Mutation	395						
LAS1L	81887		GRCh37	X	64749656	64749656	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000374811.3:c.617T>A	p.Ile206Lys	p.I206K	ENST00000374811	NM_031206.4	206	aTa/aAa	0																																																																																																																																																																																																																																												
LAT2	0	broad.mit.edu	GRCh37	7	73630358	73630358	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-19-1790-01	TCGA-19-1790-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275635.7:c.53T>G	p.Leu18Trp	p.L18W	ENST00000275635	NM_032463.2	18	tTg/tGg	0			1			G	L/W	uc003uag.2	protein_coding		CCDS5566.2			53/732										0	c.(52-54)TTG>TGG			hmmpanther:PTHR15646,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,Transmembrane_helices:TMhelix	linker for activation of T cells family member				ENSP00000275635		14-Mar									COSM1131525	14-Mar	.		ENST00000275635	Transcript			B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding	ENSG00000086730	g.chr7:73630358T>G	12749			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=NTAL_HUMAN&rb=1&re=242&var=L18W	NA	getma.org/?cm=var&var=hg19,7,73630358,T,G&fts=all	L18W	--	--	1																																		RFC2_uc011kfa.1_Intron|LAT2_uc003uah.2_Missense_Mutation_p.L18W|LAT2_uc003uai.2_Missense_Mutation_p.L18W|LAT2_uc010lbo.2_RNA	1			probably_damaging(0.998)	p.L18W	NM_032464	NP_115853		deleterious(0)	1	NTAL_HUMAN	LAT2	HGNC	Q9GZY6	NTAL_HUMAN			F8W947_HUMAN,C9JDY7_HUMAN,C9JA24_HUMAN		3	603	+			UPI0000037782	18			Helical; Signal-anchor for type III membrane protein; (Potential).		SNV	LAT2,missense_variant,p.Leu18Trp,ENST00000460943,NM_032464.2;LAT2,missense_variant,p.Leu18Trp,ENST00000398475,;LAT2,missense_variant,p.Leu18Trp,ENST00000344995,NM_014146.3;LAT2,missense_variant,p.Leu18Trp,ENST00000275635,NM_032463.2;LAT2,missense_variant,p.Leu18Trp,ENST00000470709,;LAT2,missense_variant,p.Leu18Trp,ENST00000465116,;LAT2,missense_variant,p.Leu18Trp,ENST00000361082,;LAT2,missense_variant,p.Leu18Trp,ENST00000475494,;LAT2,missense_variant,p.Leu18Trp,ENST00000488266,;LAT2,upstream_gene_variant,,ENST00000490586,;LAT2,downstream_gene_variant,,ENST00000491595,;	uc003uag.2	c.53T>G	284/1869	3	3			c.53T>G						7	SNP	c.(52-54)TTG>TGG	6	6				0	Broad	linker for activation of T cells family member			73630358		0.637	ENSG00000086730	8487	g.chr7:73630358T>G	B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding							-12.53546	KEEP	10	12	-1	62	60	10	12	-1	6.966938	62	60	0.07	1	0	0	0	0	1	0	0	0	--	--		0	G			RFC2_uc011kfa.1_Intron|LAT2_uc003uah.2_Missense_Mutation_p.L18W|LAT2_uc003uai.2_Missense_Mutation_p.L18W|LAT2_uc010lbo.2_RNA	160	GBM-19-1790-TP	p.L18W	T	CTGGTGCTGTTGGGGGTGGCA	NM_032464	NP_115853	73630358	Q9GZY6	NTAL_HUMAN	0			3	603	+	G	G			Missense_Mutation	18			Helical; Signal-anchor for type III membrane protein; (Potential).			
LAT2	0	broad.mit.edu	GRCh37	7	73630358	73630358	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-41-2572-01	TCGA-41-2572-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275635.7:c.53T>G	p.Leu18Trp	p.L18W	ENST00000275635	NM_032463.2	18	tTg/tGg	0			1			G	L/W	uc003uag.2	protein_coding		CCDS5566.2			53/732										0	c.(52-54)TTG>TGG			hmmpanther:PTHR15646,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,Transmembrane_helices:TMhelix	linker for activation of T cells family member				ENSP00000275635		14-Mar									COSM1131525	14-Mar	.		ENST00000275635	Transcript			B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding	ENSG00000086730	g.chr7:73630358T>G	12749			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=NTAL_HUMAN&rb=1&re=242&var=L18W	NA	getma.org/?cm=var&var=hg19,7,73630358,T,G&fts=all	L18W	--	--	1																																		RFC2_uc011kfa.1_Intron|LAT2_uc003uah.2_Missense_Mutation_p.L18W|LAT2_uc003uai.2_Missense_Mutation_p.L18W|LAT2_uc010lbo.2_RNA	1			probably_damaging(0.998)	p.L18W	NM_032464	NP_115853		deleterious(0)	1	NTAL_HUMAN	LAT2	HGNC	Q9GZY6	NTAL_HUMAN			F8W947_HUMAN,C9JDY7_HUMAN,C9JA24_HUMAN		3	603	+			UPI0000037782	18			Helical; Signal-anchor for type III membrane protein; (Potential).		SNV	LAT2,missense_variant,p.Leu18Trp,ENST00000460943,NM_032464.2;LAT2,missense_variant,p.Leu18Trp,ENST00000398475,;LAT2,missense_variant,p.Leu18Trp,ENST00000344995,NM_014146.3;LAT2,missense_variant,p.Leu18Trp,ENST00000275635,NM_032463.2;LAT2,missense_variant,p.Leu18Trp,ENST00000470709,;LAT2,missense_variant,p.Leu18Trp,ENST00000465116,;LAT2,missense_variant,p.Leu18Trp,ENST00000361082,;LAT2,missense_variant,p.Leu18Trp,ENST00000475494,;LAT2,missense_variant,p.Leu18Trp,ENST00000488266,;LAT2,upstream_gene_variant,,ENST00000490586,;LAT2,downstream_gene_variant,,ENST00000491595,;	uc003uag.2	c.53T>G	284/1869	3	3			c.53T>G						7	SNP	c.(52-54)TTG>TGG	6	6				0	Broad	linker for activation of T cells family member			73630358		0.637	ENSG00000086730	8487	g.chr7:73630358T>G	B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding							-16.768283	KEEP	21	14	-1	76	82	21	14	-1	6.311772	76	82	0.076271	1	0	0	0	0	1	0	0	0	--	--		0	G			RFC2_uc011kfa.1_Intron|LAT2_uc003uah.2_Missense_Mutation_p.L18W|LAT2_uc003uai.2_Missense_Mutation_p.L18W|LAT2_uc010lbo.2_RNA	251	GBM-41-2572-TP	p.L18W	T	CTGGTGCTGTTGGGGGTGGCA	NM_032464	NP_115853	73630358	Q9GZY6	NTAL_HUMAN	0			3	603	+	G	G			Missense_Mutation	18			Helical; Signal-anchor for type III membrane protein; (Potential).			
LBP	3929	broad.mit.edu	GRCh37	20	36989406	36989406	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01	TCGA-06-0185-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217407.2:c.637C>T	p.Leu213Phe	p.L213F	ENST00000217407	NM_004139.3	213	Ctc/Ttc	0	T:0		1			T	L/F	uc002xic.1	protein_coding	YES	CCDS13304.1			637/1446									ovary(1)|central_nervous_system(1)	2	c.(637-639)CTC>TTC			Gene3D:1ewfA02,hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF43,SMART_domains:SM00328,Superfamily_domains:SSF55394	lipopolysaccharide-binding protein precursor			T:0.0001	ENSP00000217407		15-Jun									rs370114388,COSM2150504	15-Jun	.		ENST00000217407	Transcript			acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	ENSG00000129988	g.chr20:36989406C>T	6517			MODERATE		2.26	medium	getma.org/?cm=msa&ty=f&p=LBP_HUMAN&rb=38&re=216&var=L213F	getma.org/pdb.php?prot=LBP_HUMAN&from=38&to=216&var=L213F	getma.org/?cm=var&var=hg19,20,36989406,C,T&fts=all	L213F	--	--	1																																			0,1	1		probably_damaging(0.999)	p.L213F	NM_004139	NP_004130		deleterious(0.02)	0,1	LBP_HUMAN	LBP	HGNC	P18428	LBP_HUMAN					6	672	+		Myeloproliferative disorder(115;0.00878)	UPI000013C728	213					SNV	LBP,missense_variant,p.Leu213Phe,ENST00000217407,NM_004139.3;	uc002xic.1	c.637C>T	798/1961	2	2			c.637C>T						20	SNP	c.(637-639)CTC>TTC	41	41			ovary(1)|central_nervous_system(1)	2	Broad	lipopolysaccharide-binding protein precursor			36989406		0.418	ENSG00000129988	8493	g.chr20:36989406C>T	acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding							276.762233	KEEP	53	59	-1	127	146	53	59	-1	288.497978	127	146	0.298137	1	0	0	0	0	1	0	0	0	--	--		0	T				40	GBM-06-0185-TP	p.L213F	C	ACAGCCTTATCTCCAAACTCT	NM_004139	NP_004130	36989406	P18428	LBP_HUMAN	0			6	672	+	T	T		Myeloproliferative disorder(115;0.00878)	Missense_Mutation	213						
LBP	3929	broad.mit.edu	GRCh37	20	36992652	36992652	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5412-01	TCGA-06-5412-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217407.2:c.676G>A	p.Ala226Thr	p.A226T	ENST00000217407	NM_004139.3	226	Gcc/Acc	0		T:0.0008	1	T:0		A	A/T	uc002xic.1	protein_coding	YES	CCDS13304.1			676/1446									ovary(1)|central_nervous_system(1)	2	c.(676-678)GCC>ACC			Gene3D:1ewfA02,hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF43,SMART_domains:SM00328,Superfamily_domains:SSF55394	lipopolysaccharide-binding protein precursor		T:0		ENSP00000217407	T:0	15-Jul	3.29E-05			0.000116		4.50E-05			rs545550026,COSM1411684	15-Jul	.		ENST00000217407	Transcript		T:0.0002	acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	ENSG00000129988	g.chr20:36992652G>A	6517			MODERATE		0.97	low	getma.org/?cm=msa&ty=f&p=LBP_HUMAN&rb=187&re=270&var=A226T	getma.org/pdb.php?prot=LBP_HUMAN&from=217&to=240&var=A226T	getma.org/?cm=var&var=hg19,20,36992652,G,A&fts=all	A226T	--	--	1																																			0,1	1		benign(0.086)	p.A226T	NM_004139	NP_004130	T:0	tolerated(0.13)	0,1	LBP_HUMAN	LBP	HGNC	P18428	LBP_HUMAN					7	711	+		Myeloproliferative disorder(115;0.00878)	UPI000013C728	226					SNV	LBP,missense_variant,p.Ala226Thr,ENST00000217407,NM_004139.3;	uc002xic.1	c.676G>A	837/1961	2	2			c.676G>A						20	SNP	c.(676-678)GCC>ACC	20	20			ovary(1)|central_nervous_system(1)	2	Broad	lipopolysaccharide-binding protein precursor			36992652		0.562	ENSG00000129988	8493	g.chr20:36992652G>A	acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding							-8.965485	KEEP	3	2	-1	46	41	3	2	-1	7.665638	46	41	0.051282	1	0	0	0	0	1	0	0	0	--	--		0	A				95	GBM-06-5412-TP	p.A226T	G	TGACAGTTTCGCCGACATTGA	NM_004139	NP_004130	36992652	P18428	LBP_HUMAN	0			7	711	+	A	A		Myeloproliferative disorder(115;0.00878)	Missense_Mutation	226						
LBP	0	broad.mit.edu	GRCh37	20	36995435	36995435	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01	TCGA-76-4928-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217407.2:c.944G>A	p.Arg315Gln	p.R315Q	ENST00000217407	NM_004139.3	315	cGa/cAa	0			1			A	R/Q	uc002xic.1	protein_coding	YES	CCDS13304.1			944/1446									ovary(1)|central_nervous_system(1)	2	c.(943-945)CGA>CAA			Gene3D:1ewfA02,Pfam_domain:PF02886,hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF43,SMART_domains:SM00329,Superfamily_domains:SSF55394	lipopolysaccharide-binding protein precursor				ENSP00000217407		15-Sep	8.24E-06					1.50E-05			rs753566903,COSM3405069	15-Sep	.		ENST00000217407	Transcript			acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	ENSG00000129988	g.chr20:36995435G>A	6517			MODERATE		2.12	medium	getma.org/?cm=msa&ty=f&p=LBP_HUMAN&rb=241&re=478&var=R315Q	getma.org/pdb.php?prot=LBP_HUMAN&from=241&to=478&var=R315Q	getma.org/?cm=var&var=hg19,20,36995435,G,A&fts=all	R315Q	--	--	1																																			0,1	1		benign(0.2)	p.R315Q	NM_004139	NP_004130		tolerated(0.16)	0,1	LBP_HUMAN	LBP	HGNC	P18428	LBP_HUMAN					9	979	+		Myeloproliferative disorder(115;0.00878)	UPI000013C728	315					SNV	LBP,missense_variant,p.Arg315Gln,ENST00000217407,NM_004139.3;	uc002xic.1	c.944G>A	1105/1961	1	1			c.944G>A						20	SNP	c.(943-945)CGA>CAA	52	52			ovary(1)|central_nervous_system(1)	2	Broad	lipopolysaccharide-binding protein precursor			36995435		0.537	ENSG00000129988	8493	g.chr20:36995435G>A	acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding							88.568961	KEEP	28	28	-1	108	124	28	28	-1	107.810309	108	124	0.196429	1	0	0	0	0	1	0	0	0	--	--		0	A				268	GBM-76-4928-TP	p.R315Q	G	TCTAATATCCGACTGACCACC	NM_004139	NP_004130	36995435	P18428	LBP_HUMAN	0			9	979	+	A	A		Myeloproliferative disorder(115;0.00878)	Missense_Mutation	315						
LBX2	85474	broad.mit.edu	GRCh37	2	74729804	74729804	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5411-01	TCGA-06-5411-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000460508.3:c.183C>T	p.Cys61=	p.C61=	ENST00000460508	NM_001009812.1	61	tgC/tgT	0			1			A		uc002slw.2	protein_coding		CCDS62938.1			-/597										0	c.(181-183)TGC>TGT	2961			ladybird homeobox 2				ENSP00000366789											COSM3407988		.		ENST00000377566	Transcript				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000179528	g.chr2:74729804G>A	15525			MODIFIER								--	--	1																																		LOC151534_uc002slx.2_RNA	1				p.C61C	NM_001009812	NP_001009812			1	LBX2_HUMAN	LBX2	HGNC	Q6XYB7	LBX2_HUMAN					1	640	-			UPI0000140529	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					SNV	LBX2,synonymous_variant,p.=,ENST00000460508,NM_001009812.1;LBX2,intron_variant,,ENST00000341396,;PCGF1,downstream_gene_variant,,ENST00000233630,NM_032673.2;LBX2,upstream_gene_variant,,ENST00000377566,NM_001282430.1;LBX2-AS1,non_coding_transcript_exon_variant,,ENST00000603175,;LBX2-AS1,non_coding_transcript_exon_variant,,ENST00000548978,;RP11-523H20.3,downstream_gene_variant,,ENST00000606287,;AC005041.17,upstream_gene_variant,,ENST00000479098,;LBX2,intron_variant,,ENST00000550249,;PCGF1,downstream_gene_variant,,ENST00000480844,;PCGF1,downstream_gene_variant,,ENST00000465993,;PCGF1,downstream_gene_variant,,ENST00000475863,;PCGF1,downstream_gene_variant,,ENST00000496911,;PCGF1,downstream_gene_variant,,ENST00000489914,;PCGF1,downstream_gene_variant,,ENST00000463744,;	uc002slw.2	c.183C>T	-/1186	1	1			c.183C>T						2	SNP	c.(181-183)TGC>TGT	64	64				0	Broad	ladybird homeobox 2			74729804		0.602	ENSG00000179528	8496	g.chr2:74729804G>A		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							-28.458318	KEEP	3	1	-1	79	86	3	1	-1	6.603025	79	86	0.027972	1	0	0	0	0	0	0	1	0	--	--		0	A			LOC151534_uc002slx.2_RNA	94	GBM-06-5411-TP	p.C61C	G	TTTGGGGGCGGCAGGCCTGTG	NM_001009812	NP_001009812	74729804	Q6XYB7	LBX2_HUMAN	0			1	640	-	A	A			Silent	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						
LCAT	3931	broad.mit.edu	GRCh37	16	67973970	67973971	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0210-01	TCGA-06-0210-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264005.5:c.1159dup	p.Gln387ProfsTer54	p.Q387Pfs*54	ENST00000264005	NM_000229.1	387	cag/cCag	0			1			G	Q/PX	uc002euy.1	protein_coding	YES	CCDS10854.1			1159-1160/1323										0	c.(1159-1161)CAGfs			hmmpanther:PTHR11440,hmmpanther:PTHR11440:SF18,Gene3D:3.40.50.1820,Pfam_domain:PF02450,Superfamily_domains:SSF53474	lecithin-cholesterol acyltransferase precursor				ENSP00000264005		6-Jun										6-Jun	.		ENST00000264005	Transcript	1		cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity	ENSG00000213398	g.chr16:67973970_67973971insG	6522			HIGH								--	--	1																																				1			p.Q387fs	NM_000229	NP_000220				LCAT_HUMAN	LCAT	HGNC	P04180	LCAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)	J3QSE5_HUMAN		6	1170_1171	-		Ovarian(137;0.0563)	UPI0000000DE7	387					insertion	LCAT,frameshift_variant,p.Gln387ProfsTer54,ENST00000264005,NM_000229.1;LCAT,frameshift_variant,p.Ala56SerfsTer23,ENST00000570369,;SLC12A4,downstream_gene_variant,,ENST00000422611,NM_001145962.1;SLC12A4,downstream_gene_variant,,ENST00000316341,NM_001145961.1,NM_005072.4;SLC12A4,downstream_gene_variant,,ENST00000576616,;SLC12A4,downstream_gene_variant,,ENST00000338335,;SLC12A4,downstream_gene_variant,,ENST00000541864,NM_001145964.1;SLC12A4,downstream_gene_variant,,ENST00000572037,;SLC12A4,downstream_gene_variant,,ENST00000537830,NM_001145963.1;LCAT,downstream_gene_variant,,ENST00000570980,;PSMB10,upstream_gene_variant,,ENST00000358514,NM_002801.3;PSMB10,upstream_gene_variant,,ENST00000574576,;LCAT,downstream_gene_variant,,ENST00000576450,;LCAT,downstream_gene_variant,,ENST00000570396,;CTC-479C5.17,downstream_gene_variant,,ENST00000590594,;LCAT,3_prime_UTR_variant,,ENST00000573538,;CTC-479C5.12,upstream_gene_variant,,ENST00000575231,;SLC12A4,downstream_gene_variant,,ENST00000570802,;PSMB10,upstream_gene_variant,,ENST00000575556,;PSMB10,upstream_gene_variant,,ENST00000570304,;LCAT,downstream_gene_variant,,ENST00000575467,;PSMB10,upstream_gene_variant,,ENST00000570985,;CTC-479C5.12,upstream_gene_variant,,ENST00000573493,;LCAT,downstream_gene_variant,,ENST00000575277,;LCAT,downstream_gene_variant,,ENST00000573846,;SLC12A4,downstream_gene_variant,,ENST00000570616,;	uc002euy.1	c.1159_1160insC	1189-1190/1507	5	5			c.1159_1160insC						16	INS	c.(1159-1161)CAGfs	62	62				0	Broad	lecithin-cholesterol acyltransferase precursor			67973971		0.629	ENSG00000213398	8500	g.chr16:67973970_67973971insG	cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity																				0.03	1	0	0	1	1	0	0	0	0	--	--		0	G				47	GBM-06-0210-TP	p.Q387fs	-	AGGCTGTGGCTGGCGGCCCTGC	NM_000229	NP_000220	67973970	P04180	LCAT_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)	6	1170_1171	-	G	G		Ovarian(137;0.0563)	Frame_Shift_Ins	387						
LCAT	0	broad.mit.edu	GRCh37	16	67976842	67976842	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs28940886		TCGA-28-5207-01	TCGA-28-5207-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264005.5:c.349G>A	p.Ala117Thr	p.A117T	ENST00000264005	NM_000229.1	117	Gcc/Acc	0			1			T	A/T	uc002euy.1	protein_coding	YES	CCDS10854.1			349/1323										0	c.(349-351)GCC>ACC			hmmpanther:PTHR11440,hmmpanther:PTHR11440:SF18,Pfam_domain:PF02450	lecithin-cholesterol acyltransferase precursor				ENSP00000264005		6-Mar	8.24E-06					1.51E-05			rs28940886,COSM2157317	6-Mar	.		ENST00000264005	Transcript	1		cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity	ENSG00000213398	g.chr16:67976842C>T	6522			MODERATE		1.76	low	getma.org/?cm=msa&ty=f&p=LCAT_HUMAN&rb=81&re=408&var=A117T	NA	getma.org/?cm=var&var=hg19,16,67976842,C,T&fts=all	A117T	--	--	1																																			1,1	1		benign(0.067)	p.A117T	NM_000229	NP_000220		tolerated(0.4)	0,1	LCAT_HUMAN	LCAT	HGNC	P04180	LCAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)	J3QSE5_HUMAN		3	360	-		Ovarian(137;0.0563)	UPI0000000DE7	117					SNV	LCAT,missense_variant,p.Ala117Thr,ENST00000264005,NM_000229.1;LCAT,missense_variant,p.Ala45Thr,ENST00000570980,;LCAT,missense_variant,p.Ala27Thr,ENST00000570369,;SLC12A4,downstream_gene_variant,,ENST00000422611,NM_001145962.1;SLC12A4,downstream_gene_variant,,ENST00000316341,NM_001145961.1,NM_005072.4;SLC12A4,downstream_gene_variant,,ENST00000576616,;SLC12A4,downstream_gene_variant,,ENST00000338335,;SLC12A4,downstream_gene_variant,,ENST00000541864,NM_001145964.1;SLC12A4,downstream_gene_variant,,ENST00000572037,;SLC12A4,downstream_gene_variant,,ENST00000537830,NM_001145963.1;LCAT,upstream_gene_variant,,ENST00000576450,;LCAT,upstream_gene_variant,,ENST00000570396,;CTC-479C5.17,downstream_gene_variant,,ENST00000590594,;LCAT,3_prime_UTR_variant,,ENST00000575467,;LCAT,non_coding_transcript_exon_variant,,ENST00000575277,;SLC12A4,downstream_gene_variant,,ENST00000570802,;SLC12A4,downstream_gene_variant,,ENST00000573023,;LCAT,upstream_gene_variant,,ENST00000573538,;SLC12A4,downstream_gene_variant,,ENST00000575857,;LCAT,upstream_gene_variant,,ENST00000573846,;SLC12A4,downstream_gene_variant,,ENST00000570616,;	uc002euy.1	c.349G>A	379/1507	1	1			c.349G>A						16	SNP	c.(349-351)GCC>ACC	7	7				0	Broad	lecithin-cholesterol acyltransferase precursor			67976842		0.642	ENSG00000213398	8500	g.chr16:67976842C>T	cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity							162.484495	KEEP	35	31	-1	44	73	35	31	-1	164.707208	44	73	0.373418	1	0	0	0	0	1	0	0	0	--	--		0	T				216	GBM-28-5207-TP	p.A117T	C	ACACCAGGGGCGTTGGACACG	NM_000229	NP_000220	67976842	P04180	LCAT_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)	3	360	-	T	T		Ovarian(137;0.0563)	Missense_Mutation	117						
LCE1C	0	broad.mit.edu	GRCh37	1	152777634	152777634	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-6173-01	TCGA-26-6173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000607093.1:c.321C>T	p.Gly107=	p.G107=	ENST00000607093		107	ggC/ggT	0			1			A	G	uc001fap.1	protein_coding		CCDS1026.1			321/357										0	c.(319-321)GGC>GGT			Low_complexity_(Seg):seg,Pfam_domain:PF14672,hmmpanther:PTHR23263:SF46,hmmpanther:PTHR23263	late cornified envelope 1C				ENSP00000475270		1-Jan	0.000149		0.00139			3.12E-05			rs551622346,COSM3399758	1-Jan	common_variant		ENST00000607093	Transcript			keratinization			ENSG00000197084	g.chr1:152777634G>A	29464			LOW								--	--	1																																			0,1				p.G107G	NM_178351	NP_848128			0,1	LCE1C_HUMAN	LCE1C	HGNC	Q5T751	LCE1C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)				2	372	-	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		UPI0000140B0A	107			Gly-rich.		SNV	LCE1C,synonymous_variant,p.=,ENST00000368768,NM_178351.3,NM_001276331.1;LCE1C,synonymous_variant,p.=,ENST00000607093,;LCE1C,downstream_gene_variant,,ENST00000606576,;	uc001fap.1	c.321C>T	321/644	2	2			c.321C>T						1	SNP	c.(319-321)GGC>GGT	33	33				0	Broad	late cornified envelope 1C			152777634		0.662	ENSG00000197084	8503	g.chr1:152777634G>A	keratinization									100.461423	KEEP	20	22	-1	49	40	20	22	-1	100.506229	49	40	0.474359	1	0	0	0	0	0	0	1	0	--	--		0	A				187	GBM-26-6173-TP	p.G107G	G	CACTCCCCCCGCCACAGCAGC	NM_178351	NP_848128	152777634	Q5T751	LCE1C_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.171)		2	372	-	A	A	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Silent	107			Gly-rich.			
LCE1E	0	broad.mit.edu	GRCh37	1	152760044	152760044	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368770.3:c.269C>A	p.Pro90His	p.P90H	ENST00000368770	NM_178353.1	90	cCc/cAc	0			1			A	P/H	uc001fan.2	protein_coding	YES	CCDS1024.1			269/357										0	c.(268-270)CCC>CAC			Pfam_domain:PF14672,hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF46	late cornified envelope 1E				ENSP00000357759		2-Feb									COSM3399757	2-Feb	.		ENST00000368770	Transcript			keratinization			ENSG00000186226	g.chr1:152760044C>A	29466			MODERATE		-0.245	neutral	getma.org/?cm=msa&ty=f&p=LCE1E_HUMAN&rb=1&re=116&var=P90H	NA	getma.org/?cm=var&var=hg19,1,152760044,C,A&fts=all	P90H	--	--	1																																			1	1		unknown(0)	p.P90H	NM_178353	NP_848130		tolerated_low_confidence(0.86)	1	LCE1E_HUMAN	LCE1E	HGNC	Q5T753	LCE1E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)				2	322	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		UPI0000161050	90			Cys-rich.		SNV	LCE1E,missense_variant,p.Pro90His,ENST00000368770,NM_178353.1;LCE1E,missense_variant,p.Pro90His,ENST00000368771,;	uc001fan.2	c.269C>A	322/1180	2	2			c.269C>A						1	SNP	c.(268-270)CCC>CAC	46	46				0	Broad	late cornified envelope 1E			152760044		0.687	ENSG00000186226	8505	g.chr1:152760044C>A	keratinization									176.692933	KEEP	37	31	0.455882353	29	25	37	31	0.455882353	177.127043	29	25	0.571429	1	0	0	0	0	1	0	0	0	--	--		0	A				159	GBM-19-1390-TP	p.P90H	C	CGTCACAGACCCCAGAGCTCT	NM_178353	NP_848130	152760044	Q5T753	LCE1E_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		2	322	+	A	A	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Missense_Mutation	90			Cys-rich.			
LCE1F	353137	broad.mit.edu	GRCh37	1	152748961	152748961	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0168-01	TCGA-06-0168-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334371.2:c.114T>C	p.Pro38=	p.P38=	ENST00000334371	NM_178354.2	38	ccT/ccC	0			1			C	P	uc010pdv.1	protein_coding	YES	CCDS1023.1			114/357										0	c.(112-114)CCT>CCC			Pfam_domain:PF14672,Prints_domain:PR00021,hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF46,Low_complexity_(Seg):seg	late cornified envelope 1F				ENSP00000334187		1-Jan										1-Jan	.		ENST00000334371	Transcript			keratinization			ENSG00000240386	g.chr1:152748961T>C	29467			LOW								--	--	1																																				1			p.P38P	NM_178354	NP_848131				LCE1F_HUMAN	LCE1F	HGNC	Q5T754	LCE1F_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)				1	114	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		UPI0000192764	38			Pro-rich.		SNV	LCE1F,synonymous_variant,p.=,ENST00000334371,NM_178354.2;	uc010pdv.1	c.114T>C	114/598	4	4			c.114T>C						1	SNP	c.(112-114)CCT>CCC	44	44				0	Broad	late cornified envelope 1F			152748961		0.408	ENSG00000240386	8506	g.chr1:152748961T>C	keratinization									38.788287	KEEP	16	9	-1	82	76	16	9	-1	57.438253	82	76	0.136986	1	0	0	0	0	0	0	1	0	--	--		0	C				33	GBM-06-0168-TP	p.P38P	T	ctaagtgccctccTGTCTCTT	NM_178354	NP_848131	152748961	Q5T754	LCE1F_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		1	114	+	C	C	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Silent	38			Pro-rich.			
LCE1F	353137	broad.mit.edu	GRCh37	1	152749095	152749095	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01	TCGA-06-0192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334371.2:c.248G>A	p.Arg83His	p.R83H	ENST00000334371	NM_178354.2	83	cGt/cAt	0			1			A	R/H	uc010pdv.1	protein_coding	YES	CCDS1023.1			248/357										0	c.(247-249)CGT>CAT			Pfam_domain:PF14672,hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF46,Low_complexity_(Seg):seg	late cornified envelope 1F				ENSP00000334187		1-Jan	8.24E-06					1.53E-05			rs765145222,COSM2150669	1-Jan	.		ENST00000334371	Transcript			keratinization			ENSG00000240386	g.chr1:152749095G>A	29467			MODERATE		0.065	neutral	getma.org/?cm=msa&ty=f&p=LCE1F_HUMAN&rb=1&re=116&var=R83H	NA	getma.org/?cm=var&var=hg19,1,152749095,G,A&fts=all	R83H	--	--	1																																			0,1	1		unknown(0)	p.R83H	NM_178354	NP_848131		tolerated_low_confidence(0.61)	0,1	LCE1F_HUMAN	LCE1F	HGNC	Q5T754	LCE1F_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)				1	248	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		UPI0000192764	83			Poly-Arg.		SNV	LCE1F,missense_variant,p.Arg83His,ENST00000334371,NM_178354.2;	uc010pdv.1	c.248G>A	248/598	2	2			c.248G>A						1	SNP	c.(247-249)CGT>CAT	30	30				0	Broad	late cornified envelope 1F			152749095		0.706	ENSG00000240386	8506	g.chr1:152749095G>A	keratinization									43.051958	KEEP	16	9	-1	36	24	16	9	-1	45.580509	36	24	0.283333	1	0	0	0	0	1	0	0	0	--	--		0	A				44	GBM-06-0192-TP	p.R83H	G	CACAGACGGCGTAGGTCCCAC	NM_178354	NP_848131	152749095	Q5T754	LCE1F_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		1	248	+	A	A	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Missense_Mutation	83			Poly-Arg.			
LCE1F	353137		GRCh37	1	152748982	152748982	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000334371.2:c.135C>A	p.Ser45Arg	p.S45R	ENST00000334371	NM_178354.2	45	agC/agA	0																																																																																																																																																																																																																																												
LCE1F	353137		GRCh37	1	152749094	152749094	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000334371.2:c.247C>T	p.Arg83Cys	p.R83C	ENST00000334371	NM_178354.2	83	Cgt/Tgt	0																																																																																																																																																																																																																																												
LCE2C	353140	broad.mit.edu	GRCh37	1	152648777	152648777	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0749-01	TCGA-06-0749-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368783.1:c.286C>A	p.Pro96Thr	p.P96T	ENST00000368783	NM_178429.3	96	Cct/Act	0	A:0.0002		1			A	P/T	uc001fah.2	protein_coding	YES	CCDS1019.1			286/333										0	c.(286-288)CCT>ACT			Low_complexity_(Seg):seg,hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF18,Pfam_domain:PF14672	late cornified envelope 2C			A:0.0002	ENSP00000357772		2-Feb	7.43E-05	0.000443	0.000173			3.11E-05		6.45E-05	rs199924989,COSM2151907	2-Feb	common_variant		ENST00000368783	Transcript			keratinization			ENSG00000187180	g.chr1:152648777C>A	29460			MODERATE		1.78	low	getma.org/?cm=msa&ty=f&p=LCE2C_HUMAN&rb=1&re=108&var=P96T	NA	getma.org/?cm=var&var=hg19,1,152648777,C,A&fts=all	P96T	--	--	1																																			0,1	1		unknown(0)	p.P96T	NM_178429	NP_848516		tolerated_low_confidence(0.64)	0,1	LCE2C_HUMAN	LCE2C	HGNC	Q5TA81	LCE2C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)				2	341	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		UPI00001927D6	96			Cys-rich.		SNV	LCE2C,missense_variant,p.Pro96Thr,ENST00000368783,NM_178429.3;LCE2B,intron_variant,,ENST00000417924,;	uc001fah.2	c.286C>A	341/614	1	1			c.286C>A						1	SNP	c.(286-288)CCT>ACT	53	53				0	Broad	late cornified envelope 2C			152648777		0.662	ENSG00000187180	8509	g.chr1:152648777C>A	keratinization									63.484478	KEEP	14	18	0.5625	60	51	14	18	0.5625	70.874326	60	51	0.234783	1	0	0	0	0	1	0	0	0	--	--		0	A				69	GBM-06-0749-TP	p.P96T	C	TGAGAGTGAACCTTCTGGGGG	NM_178429	NP_848516	152648777	Q5TA81	LCE2C_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		2	341	+	A	A	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Missense_Mutation	96			Cys-rich.			
LCE3A	0	broad.mit.edu	GRCh37	1	152595450	152595450	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01	TCGA-19-5951-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335674.1:c.130G>A	p.Glu44Lys	p.E44K	ENST00000335674	NM_178431.1	44	Gag/Aag	0			1			T	E/K	uc010pdt.1	protein_coding	YES	CCDS1017.1			130/270										0	c.(130-132)GAG>AAG			Low_complexity_(Seg):seg,hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF27,Pfam_domain:PF14672	late cornified envelope 3A				ENSP00000335006		1-Jan									COSM2156605	1-Jan	.		ENST00000335674	Transcript			keratinization			ENSG00000185962	g.chr1:152595450C>T	29461			MODERATE								--	--	1																																			1	1		unknown(0)	p.E44K	NM_178431	NP_848518		deleterious_low_confidence(0.03)	1	LCE3A_HUMAN	LCE3A	HGNC	Q5TA76	LCE3A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)				1	130	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		UPI00001927D2	44					SNV	LCE3A,missense_variant,p.Glu44Lys,ENST00000335674,NM_178431.1;	uc010pdt.1	c.130G>A	130/270	1	1			c.130G>A						1	SNP	c.(130-132)GAG>AAG	5	5				0	Broad	late cornified envelope 3A			152595450		0.657	ENSG00000185962	8511	g.chr1:152595450C>T	keratinization									87.296643	KEEP	11	18	-1	13	20	11	18	-1	87.329761	13	20	0.474576	1	0	0	0	0	1	0	0	0	--	--		0	T				171	GBM-19-5951-TP	p.E44K	C	CAGCTGCGCTCGGAGCTGGGC	NM_178431	NP_848518	152595450	Q5TA76	LCE3A_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		1	130	-	T	T	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Missense_Mutation	44						
LCE3E	353145	broad.mit.edu	GRCh37	1	152538509	152538509	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368789.1:c.176G>A	p.Arg59His	p.R59H	ENST00000368789	NM_178435.3	59	cGc/cAc	0			1			T	R/H	uc001faa.2	protein_coding	YES	CCDS1013.1			176/279									ovary(1)	1	c.(175-177)CGC>CAC			Low_complexity_(Seg):seg,hmmpanther:PTHR23263:SF43,hmmpanther:PTHR23263,Pfam_domain:PF14672	late cornified envelope 3E				ENSP00000357778		2-Feb									COSM3399754	2-Feb	.		ENST00000368789	Transcript			keratinization			ENSG00000185966	g.chr1:152538509C>T	29463			MODERATE								--	--	1																																			1	1		unknown(0)	p.R59H	NM_178435	NP_848522		tolerated_low_confidence(0.17)	1	LCE3E_HUMAN	LCE3E	HGNC	Q5T5B0	LCE3E_HUMAN	Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)			2	232	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		UPI00001927D0	59					SNV	LCE3E,missense_variant,p.Arg59His,ENST00000368789,NM_178435.3;	uc001faa.2	c.176G>A	232/611	2	2			c.176G>A						1	SNP	c.(175-177)CGC>CAC	48	48			ovary(1)	1	Broad	late cornified envelope 3E			152538509		0.682	ENSG00000185966	8515	g.chr1:152538509C>T	keratinization									101.715924	KEEP	21	22	-1	36	36	21	22	-1	103.479061	36	36	0.361905	1	0	0	0	0	1	0	0	0	--	--		0	T				65	GBM-06-0743-TP	p.R59H	C	TCGGTGGTGGCGCCTGTGGTG	NM_178435	NP_848522	152538509	Q5T5B0	LCE3E_HUMAN	0	Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)	2	232	-	T	T	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Missense_Mutation	59						
LCE4A	0	broad.mit.edu	GRCh37	1	152681693	152681698	+	inframe_deletion	In_Frame_Del	DEL	TGTGGT	TGTGGT	-	rs113617356;rs11269814;rs74871420;rs79268808		TCGA-14-3476-01	TCGA-14-3476-01	TGTGGT	TGTGGT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335535.3:c.144_149delTGGTTG	p.Gly49_Cys50del	p.G49_C50del	ENST00000335535	NM_178356.2	48	TGTGGT/-	0			1			-	CG/-	uc001fak.2	protein_coding		CCDS1022.1			142-147/300										0	c.(142-147)TGTGGTdel			Pfam_domain:PF14672,hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF25,Low_complexity_(Seg):seg	late cornified envelope 4A				ENSP00000335223		1-Jan	6.61E-05	9.66E-05				6.02E-05			rs113617356	1-Jan	.		ENST00000335535	Transcript			keratinization			ENSG00000187170	g.chr1:152681693_152681698delTGTGGT	16613	2		MODERATE								--	--	1																																							p.CG48del	NM_178356	NP_848133				LCE4A_HUMAN	LCE4A	HGNC	Q5TA78	LCE4A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.116)				1	171_176	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		UPI0000192763	48_49			Cys-rich.		deletion	LCE4A,inframe_deletion,p.Gly49_Cys50del,ENST00000368777,;LCE4A,inframe_deletion,p.Gly49_Cys50del,ENST00000335535,NM_178356.2;	uc001fak.2	c.142_147delTGTGGT	171-176/388	5	5			c.142_147delTGTGGT						1	DEL	c.(142-147)TGTGGTdel	10	10				0	Broad	late cornified envelope 4A			152681698		0.578	ENSG00000187170	8516	g.chr1:152681693_152681698delTGTGGT	keratinization																						0.04	1	1	0	1	0	0	0	0	0	--	--		0	-				151	GBM-14-3476-TP	p.CG48del	TGTGGT	CTCTGGGGGCTGTGGTTGCTGCAGCT	NM_178356	NP_848133	152681693	Q5TA78	LCE4A_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.116)		1	171_176	+	-	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		In_Frame_Del	48_49			Cys-rich.			
LCE4A	0	broad.mit.edu	GRCh37	1	152681693	152681698	+	inframe_deletion	In_Frame_Del	DEL	TGTGGT	TGTGGT	-	rs113617356;rs11269814;rs74871420;rs79268808		TCGA-32-1970-01	TCGA-32-1970-01	TGTGGT	TGTGGT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335535.3:c.144_149delTGGTTG	p.Gly49_Cys50del	p.G49_C50del	ENST00000335535	NM_178356.2	48	TGTGGT/-	0			1			-	CG/-	uc001fak.2	protein_coding		CCDS1022.1			142-147/300										0	c.(142-147)TGTGGTdel			Pfam_domain:PF14672,hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF25,Low_complexity_(Seg):seg	late cornified envelope 4A				ENSP00000335223		1-Jan	6.61E-05	9.66E-05				6.02E-05			rs113617356	1-Jan	.		ENST00000335535	Transcript			keratinization			ENSG00000187170	g.chr1:152681693_152681698delTGTGGT	16613	2		MODERATE								--	--	1																																							p.CG48del	NM_178356	NP_848133				LCE4A_HUMAN	LCE4A	HGNC	Q5TA78	LCE4A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.116)				1	171_176	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		UPI0000192763	48_49			Cys-rich.		deletion	LCE4A,inframe_deletion,p.Gly49_Cys50del,ENST00000368777,;LCE4A,inframe_deletion,p.Gly49_Cys50del,ENST00000335535,NM_178356.2;	uc001fak.2	c.142_147delTGTGGT	171-176/388	5	5			c.142_147delTGTGGT						1	DEL	c.(142-147)TGTGGTdel	10	10				0	Broad	late cornified envelope 4A			152681698		0.578	ENSG00000187170	8516	g.chr1:152681693_152681698delTGTGGT	keratinization																						0.03	1	1	0	1	0	0	0	0	0	--	--		0	-				228	GBM-32-1970-TP	p.CG48del	TGTGGT	CTCTGGGGGCTGTGGTTGCTGCAGCT	NM_178356	NP_848133	152681693	Q5TA78	LCE4A_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.116)		1	171_176	+	-	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		In_Frame_Del	48_49			Cys-rich.			
LCE5A	0	broad.mit.edu	GRCh37	1	152484251	152484251	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-28-5208-01	TCGA-28-5208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334269.2:c.241C>T	p.Arg81Ter	p.R81*	ENST00000334269	NM_178438.4	81	Cga/Tga	0			1			T	R/*	uc001ezy.2	protein_coding	YES	CCDS1011.1			241/357									ovary(1)	1	c.(241-243)CGA>TGA			Low_complexity_(Seg):seg,Pfam_domain:PF14672,hmmpanther:PTHR23263:SF31,hmmpanther:PTHR23263	late cornified envelope 5A				ENSP00000333952		2-Feb	5.77E-05		8.66E-05			6.09E-05			rs757437175,COSM3399753	2-Feb	.		ENST00000334269	Transcript			keratinization			ENSG00000186207	g.chr1:152484251C>T	16614			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,152484251,C,T&fts=all	R81*	--	--	1																																		CRCT1_uc001ezz.2_5'Flank	0,1	1			p.R81*	NM_178438	NP_848525			0,1	LCE5A_HUMAN	LCE5A	HGNC	Q5TCM9	LCE5A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)				2	417	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		UPI00001615D7	81			Cys-rich.		SNV	LCE5A,stop_gained,p.Arg81Ter,ENST00000334269,NM_178438.4;CRCT1,upstream_gene_variant,,ENST00000368790,NM_019060.2;	uc001ezy.2	c.241C>T	417/819	5	2			c.241C>T						1	SNP	c.(241-243)CGA>TGA	30	30			ovary(1)	1	Broad	late cornified envelope 5A			152484251		0.677	ENSG00000186207	8517	g.chr1:152484251C>T	keratinization									77.584447	KEEP	35	28	-1	44	41	35	28	-1	77.672755	44	41	0.459016	1	0	0	0	0	0	1	0	0	--	--		0	T			CRCT1_uc001ezz.2_5'Flank	217	GBM-28-5208-TP	p.R81*	C	CCTCCGACGCCGACCTCAGAG	NM_178438	NP_848525	152484251	Q5TCM9	LCE5A_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		2	417	+	T	T	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Nonsense_Mutation	81			Cys-rich.			
LCK	3932	broad.mit.edu	GRCh37	1	32741519	32741519	+	synonymous_variant	Silent	SNP	G	G	A	rs1126767	byFrequency	TCGA-06-0210-01	TCGA-06-0210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336890.5:c.486G>A	p.Ser162=	p.S162=	ENST00000336890	NM_005356.3	162	tcG/tcA	0	A:0		1			A	S	uc001bux.2	protein_coding	YES	CCDS359.1			486/1530	T		TRB@		T-ALL			p.S162S(1)	lung(3)|central_nervous_system(2)|ovary(1)	6	c.(484-486)TCG>TCA			PROSITE_profiles:PS50001,hmmpanther:PTHR24418:SF204,hmmpanther:PTHR24418,Pfam_domain:PF00017,Gene3D:3.30.505.10,SMART_domains:SM00252,Superfamily_domains:SSF50044,Superfamily_domains:SSF55550,Prints_domain:PR00401	lymphocyte-specific protein tyrosine kinase	Dasatinib(DB01254)		A:0.0001	ENSP00000337825		13-Jul									rs1126767,COSM1559297,COSM3400682,COSM1559296	13-Jul	.		ENST00000336890	Transcript	1		activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	ENSG00000182866	g.chr1:32741519G>A	6524			LOW								--	--	1																																		LCK_uc001buy.2_Silent_p.S162S|LCK_uc001buz.2_Silent_p.S162S|LCK_uc010ohc.1_Silent_p.S206S|LCK_uc001bva.2_Silent_p.S220S	0,1,1,1	1			p.S162S	NM_005356	NP_005347			0,1,1,1	LCK_HUMAN	LCK	HGNC	P06239	LCK_HUMAN			F8W6B9_HUMAN,B3KUV3_HUMAN		7	624	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	UPI0000151F17	162			SH2.|Interaction with PTPRH.		SNV	LCK,synonymous_variant,p.=,ENST00000333070,NM_001042771.1;LCK,synonymous_variant,p.=,ENST00000336890,NM_005356.3;LCK,synonymous_variant,p.=,ENST00000373564,;LCK,synonymous_variant,p.=,ENST00000495610,;LCK,synonymous_variant,p.=,ENST00000373557,;LCK,downstream_gene_variant,,ENST00000482949,;LCK,downstream_gene_variant,,ENST00000477031,;LCK,downstream_gene_variant,,ENST00000461712,;LCK,downstream_gene_variant,,ENST00000373562,;LCK,non_coding_transcript_exon_variant,,ENST00000469765,;LCK,non_coding_transcript_exon_variant,,ENST00000469956,;LCK,downstream_gene_variant,,ENST00000355928,;LCK,downstream_gene_variant,,ENST00000476457,;	uc001bux.2	c.486G>A	624/2117	2	2			c.486G>A	T		TRB@		T-ALL	1	SNP	c.(484-486)TCG>TCA	17	17		p.S162S(1)	lung(3)|central_nervous_system(2)|ovary(1)	6	Broad	lymphocyte-specific protein tyrosine kinase		Dasatinib(DB01254)	32741519		0.562	ENSG00000182866	8518	g.chr1:32741519G>A	activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			146			146	67.67557	KEEP	12	19	-1	53	35	12	19	-1	73.119095	53	35	0.259615	1	0	0	0	0	0	0	1	0	--	--		0	A			LCK_uc001buy.2_Silent_p.S162S|LCK_uc001buz.2_Silent_p.S162S|LCK_uc010ohc.1_Silent_p.S206S|LCK_uc001bva.2_Silent_p.S220S	47	GBM-06-0210-TP	p.S162S	G	ATTCAGGATCGTTTTCACTGT	NM_005356	NP_005347	32741519	P06239	LCK_HUMAN	0			7	624	+	A	A		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	Silent	162			SH2.|Interaction with PTPRH.			
LCK	3932	broad.mit.edu	GRCh37	1	32740011	32740011	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-06-0646-01	TCGA-06-0646-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336890.5:c.81A>T	p.Ile27=	p.I27=	ENST00000336890	NM_005356.3	27	atA/atT	0			1			T	I	uc001bux.2	protein_coding	YES	CCDS359.1			81/1530	T		TRB@		T-ALL				lung(3)|central_nervous_system(2)|ovary(1)	6	c.(79-81)ATA>ATT			hmmpanther:PTHR24418:SF204,hmmpanther:PTHR24418	lymphocyte-specific protein tyrosine kinase	Dasatinib(DB01254)			ENSP00000337825		13-Feb									COSM2151314,COSM3400681,COSM2151313	13-Feb	.		ENST00000336890	Transcript	1		activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	ENSG00000182866	g.chr1:32740011A>T	6524			LOW								--	--	1																																		LCK_uc001buy.2_Silent_p.I27I|LCK_uc001buz.2_Silent_p.I27I|LCK_uc010ohc.1_Silent_p.I71I|LCK_uc001bva.2_Silent_p.I27I	1,1,1	1			p.I27I	NM_005356	NP_005347			1,1,1	LCK_HUMAN	LCK	HGNC	P06239	LCK_HUMAN			F8W6B9_HUMAN,B3KUV3_HUMAN		2	219	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	UPI0000151F17	27			Interactions with CD4 and CD8 (By similarity).		SNV	LCK,synonymous_variant,p.=,ENST00000333070,NM_001042771.1;LCK,synonymous_variant,p.=,ENST00000336890,NM_005356.3;LCK,synonymous_variant,p.=,ENST00000373564,;LCK,synonymous_variant,p.=,ENST00000495610,;LCK,synonymous_variant,p.=,ENST00000373557,;LCK,synonymous_variant,p.=,ENST00000482949,;LCK,synonymous_variant,p.=,ENST00000477031,;LCK,synonymous_variant,p.=,ENST00000461712,;LCK,synonymous_variant,p.=,ENST00000373562,;LCK,non_coding_transcript_exon_variant,,ENST00000469765,;LCK,non_coding_transcript_exon_variant,,ENST00000355928,;LCK,non_coding_transcript_exon_variant,,ENST00000476457,;LCK,upstream_gene_variant,,ENST00000469956,;	uc001bux.2	c.81A>T	219/2117	1	1			c.81A>T	T		TRB@		T-ALL	1	SNP	c.(79-81)ATA>ATT	7	7			lung(3)|central_nervous_system(2)|ovary(1)	6	Broad	lymphocyte-specific protein tyrosine kinase		Dasatinib(DB01254)	32740011		0.547	ENSG00000182866	8518	g.chr1:32740011A>T	activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			146			146	104.895587	KEEP	26	22	-1	32	42	26	22	-1	106.768144	32	42	0.353535	1	0	0	0	0	0	0	1	0	--	--		0	T			LCK_uc001buy.2_Silent_p.I27I|LCK_uc001buz.2_Silent_p.I27I|LCK_uc010ohc.1_Silent_p.I71I|LCK_uc001bva.2_Silent_p.I27I	60	GBM-06-0646-TP	p.I27I	A	ATTATCCCATAGTCCCACTGG	NM_005356	NP_005347	32740011	P06239	LCK_HUMAN	0			2	219	+	T	T		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	Silent	27			Interactions with CD4 and CD8 (By similarity).			
LCMT1	51451	broad.mit.edu	GRCh37	16	25143735	25143735	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0749-01	TCGA-06-0749-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399069.3:c.218G>A	p.Arg73Gln	p.R73Q	ENST00000399069	NM_016309.2	73	cGa/cAa	0			1			A	R/Q	uc002dnx.1	protein_coding	YES	CCDS45445.1			218/1005										0	c.(217-219)CGA>CAA			Gene3D:3.40.50.150,Pfam_domain:PF04072,PIRSF_domain:PIRSF016305,hmmpanther:PTHR13600,hmmpanther:PTHR13600:SF6,Superfamily_domains:SSF53335	leucine carboxyl methyltransferase 1 isoform a	L-Leucine(DB00149)			ENSP00000382021		11-Mar									COSM2151915	11-Mar	.		ENST00000399069	Transcript					protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity	ENSG00000205629	g.chr16:25143735G>A	17557			MODERATE		3.935	high	getma.org/?cm=msa&ty=f&p=LCMT1_HUMAN&rb=26&re=217&var=R73Q	getma.org/pdb.php?prot=LCMT1_HUMAN&from=26&to=217&var=R73Q	getma.org/?cm=var&var=hg19,16,25143735,G,A&fts=all	R73Q	--	--	1																																		LCMT1_uc002dny.1_Missense_Mutation_p.R73Q|LCMT1_uc002dnz.1_5'UTR|LCMT1_uc002doa.1_5'UTR	1	1		probably_damaging(1)	p.R73Q	NM_016309	NP_057393		deleterious(0.03)	1	LCMT1_HUMAN	LCMT1	HGNC	Q9UIC8	LCMT1_HUMAN		GBM - Glioblastoma multiforme(48;0.0336)	I3L2Q8_HUMAN		3	376	+			UPI0000000C29	73				S-adenosyl-L-methionine.	SNV	LCMT1,missense_variant,p.Arg73Gln,ENST00000399069,NM_016309.2;LCMT1,missense_variant,p.Arg73Gln,ENST00000380966,NM_001032391.1;LCMT1,missense_variant,p.Arg57Gln,ENST00000570981,;LCMT1,non_coding_transcript_exon_variant,,ENST00000577157,;LCMT1,synonymous_variant,p.=,ENST00000564011,;LCMT1,3_prime_UTR_variant,,ENST00000380962,;	uc002dnx.1	c.218G>A	373/1368	2	2			c.218G>A						16	SNP	c.(217-219)CGA>CAA	29	29				0	Broad	leucine carboxyl methyltransferase 1 isoform a		L-Leucine(DB00149)	25143735		0.488	ENSG00000205629	8520	g.chr16:25143735G>A			protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity	Colon(200;565 2072 24396 47922 50898)			Colon(200;565 2072 24396 47922 50898)			83.745937	KEEP	17	11	-1	23	11	17	11	-1	83.841179	23	11	0.45614	1	0	0	0	0	1	0	0	0	--	--		0	A			LCMT1_uc002dny.1_Missense_Mutation_p.R73Q|LCMT1_uc002dnz.1_5'UTR|LCMT1_uc002doa.1_5'UTR	69	GBM-06-0749-TP	p.R73Q	G	TATTTTGCTCGAGTCCATGGT	NM_016309	NP_057393	25143735	Q9UIC8	LCMT1_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0336)	3	376	+	A	A			Missense_Mutation	73				S-adenosyl-L-methionine.		
LCMT2	0	broad.mit.edu	GRCh37	15	43622424	43622425	+	frameshift_variant	Frame_Shift_Del	DEL	GA	GA	-			TCGA-12-0821-01	TCGA-12-0821-01	GA	GA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305641.5:c.263_264delTC	p.Leu88ArgfsTer63	p.L88Rfs*63	ENST00000305641	NM_014793.4	88	cTC/c	0			1			-	L/X	uc001zrg.2	protein_coding	YES	CCDS10094.1			263-264/2061										0	c.(262-264)CTCfs			Gene3D:3.40.50.150,Pfam_domain:PF04072,hmmpanther:PTHR13600,hmmpanther:PTHR13600:SF2,Superfamily_domains:SSF53335	leucine carboxyl methyltransferase 2	L-Leucine(DB00149)			ENSP00000307214		1-Jan										1-Jan	.		ENST00000305641	Transcript			tRNA processing		methyltransferase activity|protein binding	ENSG00000168806	g.chr15:43622424_43622425delGA	17558			HIGH								--	--	1																																		LCMT2_uc010udn.1_Intron|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank		1			p.L88fs	NM_014793	NP_055608				LCMT2_HUMAN	LCMT2	HGNC	O60294	LCMT2_HUMAN		GBM - Glioblastoma multiforme(94;8.1e-07)	B4DUW3_HUMAN		1	467_468	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	UPI00000727F6	88					deletion	LCMT2,frameshift_variant,p.Leu88ArgfsTer63,ENST00000305641,NM_014793.4;LCMT2,intron_variant,,ENST00000567039,;LCMT2,intron_variant,,ENST00000544735,;ADAL,upstream_gene_variant,,ENST00000422466,;ADAL,upstream_gene_variant,,ENST00000428046,NM_001159280.1;ADAL,upstream_gene_variant,,ENST00000389651,NM_001012969.2;ADAL,upstream_gene_variant,,ENST00000562188,;ADAL,upstream_gene_variant,,ENST00000565555,;ADAL,upstream_gene_variant,,ENST00000563551,;	uc001zrg.2	c.263_264delTC	379-380/2830	5	5			c.263_264delTC						15	DEL	c.(262-264)CTCfs	12	12				0	Broad	leucine carboxyl methyltransferase 2		L-Leucine(DB00149)	43622425		0.668	ENSG00000168806	8521	g.chr15:43622424_43622425delGA	tRNA processing		methyltransferase activity|protein binding																				0.08	1	1	0	1	0	0	0	0	0	--	--		0	-			LCMT2_uc010udn.1_Intron|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	123	GBM-12-0821-TP	p.L88fs	GA	AGCCAGCGCCGAGAGACAAGAT	NM_014793	NP_055608	43622424	O60294	LCMT2_HUMAN	0		GBM - Glioblastoma multiforme(94;8.1e-07)	1	467_468	-	-	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	Frame_Shift_Del	88						
LCN1	3933	broad.mit.edu	GRCh37	9	138415812	138415812	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263598.2:c.379C>T	p.Pro127Ser	p.P127S	ENST00000263598	NM_002297.3	127	Ccg/Tcg	0			1			T	P/S	uc004cfz.1	protein_coding	YES	CCDS6991.1			379/531										0	c.(379-381)CCG>TCG			Superfamily_domains:SSF50814,Gene3D:2.40.128.20,Pfam_domain:PF00061,hmmpanther:PTHR11430:SF3,hmmpanther:PTHR11430	lipocalin 1 precursor				ENSP00000263598		7-Apr										7-Apr	.		ENST00000263598	Transcript			proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity	ENSG00000160349	g.chr9:138415812C>T	6525			MODERATE		-0.14	neutral	getma.org/?cm=msa&ty=f&p=LCN1_HUMAN&rb=32&re=169&var=P127S	getma.org/pdb.php?prot=LCN1_HUMAN&from=32&to=169&var=P127S	getma.org/?cm=var&var=hg19,9,138415812,C,T&fts=all	P127S	--	--	1																																		LCN1_uc004cga.1_Missense_Mutation_p.P127S		1		benign(0.004)	p.P127S	NM_002297	NP_002288		tolerated(0.7)		LCN1_HUMAN	LCN1	HGNC	P31025	LCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)			4	437	+		Myeloproliferative disorder(178;0.0511)	UPI0000040631	127					SNV	LCN1,missense_variant,p.Pro127Ser,ENST00000263598,NM_002297.3,NM_001252618.1,NM_001252619.1,NM_001252617.1;LCN1,missense_variant,p.Pro127Ser,ENST00000371781,;AL161452.1,downstream_gene_variant,,ENST00000408686,;	uc004cfz.1	c.379C>T	439/776	2	2			c.379C>T						9	SNP	c.(379-381)CCG>TCG	35	35				0	Broad	lipocalin 1 precursor			138415812		0.632	ENSG00000160349	8522	g.chr9:138415812C>T	proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity							-5.524801	KEEP	1	3	-1	41	35	1	3	-1	6.529875	41	35	0.052632	1	0	0	0	0	1	0	0	0	--	--		0	T			LCN1_uc004cga.1_Missense_Mutation_p.P127S	18	GBM-06-0137-TP	p.P127S	C	GCACGGGAAGCCGGTCCGAGG	NM_002297	NP_002288	138415812	P31025	LCN1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)	4	437	+	T	T		Myeloproliferative disorder(178;0.0511)	Missense_Mutation	127						
LCN1	0	broad.mit.edu	GRCh37	9	138415760	138415760	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-15-0742-01	TCGA-15-0742-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263598.2:c.327G>A	p.Ser109=	p.S109=	ENST00000263598	NM_002297.3	109	tcG/tcA	0	A:0	A:0.0008	1	A:0.0014		A	S	uc004cfz.1	protein_coding	YES	CCDS6991.1			327/531										0	c.(325-327)TCG>TCA			Prints_domain:PR01175,Superfamily_domains:SSF50814,Gene3D:2.40.128.20,Pfam_domain:PF00061,hmmpanther:PTHR11430:SF3,hmmpanther:PTHR11430	lipocalin 1 precursor		A:0	A:0.0002	ENSP00000263598	A:0	7-Apr	0.000124	9.66E-05	0.000173			0.000135	0.00111	6.06E-05	rs373587388,COSM295602	7-Apr	.		ENST00000263598	Transcript		A:0.0004	proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity	ENSG00000160349	g.chr9:138415760G>A	6525			LOW								--	--	1																																		LCN1_uc004cga.1_Silent_p.S109S	0,1	1			p.S109S	NM_002297	NP_002288	A:0		0,1	LCN1_HUMAN	LCN1	HGNC	P31025	LCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)			4	385	+		Myeloproliferative disorder(178;0.0511)	UPI0000040631	109					SNV	LCN1,synonymous_variant,p.=,ENST00000263598,NM_002297.3,NM_001252618.1,NM_001252619.1,NM_001252617.1;LCN1,synonymous_variant,p.=,ENST00000371781,;AL161452.1,downstream_gene_variant,,ENST00000408686,;	uc004cfz.1	c.327G>A	387/776	2	2			c.327G>A						9	SNP	c.(325-327)TCG>TCA	36	36				0	Broad	lipocalin 1 precursor			138415760		0.602	ENSG00000160349	8522	g.chr9:138415760G>A	proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity							0.094455	KEEP	2	1	-1	22	16	2	1	-1	7.239737	22	16	0.076923	1	0	0	0	0	0	0	1	0	--	--		0	A			LCN1_uc004cga.1_Silent_p.S109S	153	GBM-15-0742-TP	p.S109S	G	TCATCAGGTCGCACGTGAAGG	NM_002297	NP_002288	138415760	P31025	LCN1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)	4	385	+	A	A		Myeloproliferative disorder(178;0.0511)	Silent	109						
LCN6	158062		GRCh37	9	139639655	139639655	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000341206.4:c.379G>A	p.Gly127Arg	p.G127R	ENST00000341206	NM_198946.2	127	Ggg/Agg	0																																																																																																																																																																																																																																												
LCP1	0	broad.mit.edu	GRCh37	13	46718596	46718596	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-28-6450-01	TCGA-28-6450-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323076.2:c.1234C>T	p.Arg412Ter	p.R412*	ENST00000323076	NM_002298.4	412	Cga/Tga	0			1			A	R/*	uc001vaz.3	protein_coding		CCDS9403.1			1234/1884	T		BCL6		NHL				lung(4)|ovary(3)	7	c.(1234-1236)CGA>TGA			Gene3D:1.10.418.10,Pfam_domain:PF00307,PROSITE_profiles:PS50021,hmmpanther:PTHR19961,hmmpanther:PTHR19961:SF34,SMART_domains:SM00033,Superfamily_domains:SSF47576	L-plastin				ENSP00000315757		16-Nov									COSM3399385	16-Nov	.		ENST00000323076	Transcript			regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	ENSG00000136167	g.chr13:46718596G>A	6528			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,13,46718596,G,A&fts=all	R412*	--	--	1																																		LCP1_uc010ack.2_5'Flank|LCP1_uc001vay.3_Nonsense_Mutation_p.R9*|LCP1_uc001vba.3_Nonsense_Mutation_p.R412*	1				p.R412*	NM_002298	NP_002289			1	PLSL_HUMAN	LCP1	HGNC	P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	Q5TBN5_HUMAN,Q5TBN3_HUMAN		11	1360	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	UPI0000070B5C	412			Actin-binding 2.|CH 3.		SNV	LCP1,stop_gained,p.Arg412Ter,ENST00000398576,;LCP1,stop_gained,p.Arg412Ter,ENST00000323076,NM_002298.4;LCP1,upstream_gene_variant,,ENST00000435666,;LCP1,downstream_gene_variant,,ENST00000469227,;LCP1,downstream_gene_variant,,ENST00000494531,;	uc001vaz.3	c.1234C>T	1472/3787	5	1			c.1234C>T	T		BCL6		NHL	13	SNP	c.(1234-1236)CGA>TGA	59	59			lung(4)|ovary(3)	7	Broad	L-plastin			46718596		0.418	ENSG00000136167	8533	g.chr13:46718596G>A	regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			600			600	75.572643	KEEP	15	15	-1	29	37	15	15	-1	77.98514	29	37	0.317073	1	0	0	0	0	0	1	0	0	--	--		0	A			LCP1_uc010ack.2_5'Flank|LCP1_uc001vay.3_Nonsense_Mutation_p.R9*|LCP1_uc001vba.3_Nonsense_Mutation_p.R412*	227	GBM-28-6450-TP	p.R412*	G	TGATTGACTCGAGGGTTAACA	NM_002298	NP_002289	46718596	P13796	PLSL_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	11	1360	-	A	A		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	Nonsense_Mutation	412			Actin-binding 2.|CH 3.			
LCT	3938	broad.mit.edu	GRCh37	2	136566075	136566075	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0132-01	TCGA-06-0132-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264162.2:c.3842C>T	p.Pro1281Leu	p.P1281L	ENST00000264162	NM_002299.2	1281	cCg/cTg	0		A:0	1	A:0		A	P/L	uc002tuu.1	protein_coding	YES	CCDS2178.1			3842/5784									ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13	c.(3841-3843)CCG>CTG			Gene3D:3.20.20.80,Pfam_domain:PF00232,hmmpanther:PTHR10353,hmmpanther:PTHR10353:SF38,Superfamily_domains:SSF51445	lactase-phlorizin hydrolase preproprotein		A:0.001		ENSP00000264162	A:0	17-Aug	3.29E-05			0.000462					rs200491872,COSM3116447	17-Aug	common_variant		ENST00000264162	Transcript	1	A:0.0002	carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	ENSG00000115850	g.chr2:136566075G>A	6530			MODERATE		0.43	neutral	getma.org/?cm=msa&ty=f&p=LPH_HUMAN&rb=899&re=1364&var=P1281L	getma.org/pdb.php?prot=LPH_HUMAN&from=899&to=1364&var=P1281L	getma.org/?cm=var&var=hg19,2,136566075,G,A&fts=all	P1281L	--	--	1																																			0,1	1		benign(0.16)	p.P1281L	NM_002299	NP_002290	A:0	tolerated(0.2)	0,1	LPH_HUMAN	LCT	HGNC	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)			8	3853	-			UPI000013D4D2	1281			3.|Extracellular (Potential).|4 X approximate repeats.		SNV	LCT,missense_variant,p.Pro1281Leu,ENST00000264162,NM_002299.2;Y_RNA,downstream_gene_variant,,ENST00000363794,;LCT,missense_variant,p.Pro713Leu,ENST00000452974,;	uc002tuu.1	c.3842C>T	3853/6279	1	1			c.3842C>T						2	SNP	c.(3841-3843)CCG>CTG	63	63			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13	Broad	lactase-phlorizin hydrolase preproprotein			136566075		0.493	ENSG00000115850	8535	g.chr2:136566075G>A	carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity							-84.749445	KEEP	1	4	-1	203	185	1	4	-1	9.215587	203	185	0.014286	1	0	0	0	0	1	0	0	0	--	--		0	A				17	GBM-06-0132-TP	p.P1281L	G	CTCCGTGTTCGGATTGGTCAG	NM_002299	NP_002290	136566075	P09848	LPH_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	3853	-	A	A			Missense_Mutation	1281			3.|Extracellular (Potential).|4 X approximate repeats.			
LCT	0	broad.mit.edu	GRCh37	2	136558294	136558294	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5207-01	TCGA-28-5207-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264162.2:c.4749C>T	p.Asn1583=	p.N1583=	ENST00000264162	NM_002299.2	1583	aaC/aaT	0	A:0	A:0	1	A:0		A	N	uc002tuu.1	protein_coding	YES	CCDS2178.1			4749/5784									ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13	c.(4747-4749)AAC>AAT			Gene3D:3.20.20.80,Pfam_domain:PF00232,hmmpanther:PTHR10353,hmmpanther:PTHR10353:SF38,Superfamily_domains:SSF51445	lactase-phlorizin hydrolase preproprotein		A:0	A:0.0003	ENSP00000264162	A:0	17-Dec	5.77E-05					7.50E-05		0.000121	rs374549487,COSM2157333	17-Dec	.		ENST00000264162	Transcript	1	A:0.0004	carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	ENSG00000115850	g.chr2:136558294G>A	6530			LOW								--	--	1																																			0,1	1			p.N1583N	NM_002299	NP_002290	A:0.002		0,1	LPH_HUMAN	LCT	HGNC	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)			12	4760	-			UPI000013D4D2	1583			Extracellular (Potential).|4.|4 X approximate repeats.		SNV	LCT,synonymous_variant,p.=,ENST00000264162,NM_002299.2;LCT,intron_variant,,ENST00000452974,;	uc002tuu.1	c.4749C>T	4760/6279	2	2			c.4749C>T						2	SNP	c.(4747-4749)AAC>AAT	32	32			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13	Broad	lactase-phlorizin hydrolase preproprotein			136558294		0.537	ENSG00000115850	8535	g.chr2:136558294G>A	carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity							172.968855	KEEP	33	30	-1	28	31	33	30	-1	172.970784	28	31	0.495652	1	0	0	0	0	0	0	1	0	--	--		0	A				216	GBM-28-5207-TP	p.N1583N	G	GGTACACATCGTTGTACAGAT	NM_002299	NP_002290	136558294	P09848	LPH_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.169)	12	4760	-	A	A			Silent	1583			Extracellular (Potential).|4.|4 X approximate repeats.			
LCTL	0	broad.mit.edu	GRCh37	15	66853375	66853375	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-0871-01	TCGA-14-0871-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341509.5:c.674G>T	p.Gly225Val	p.G225V	ENST00000341509	NM_207338.3	225	gGc/gTc	0			1			A	G/V	uc002aqc.2	protein_coding	YES	CCDS10220.1			674/1704									ovary(2)	2	c.(673-675)GGC>GTC			Gene3D:3.20.20.80,Pfam_domain:PF00232,hmmpanther:PTHR10353,hmmpanther:PTHR10353:SF24,Superfamily_domains:SSF51445	lactase-like precursor				ENSP00000343490		13-Jun	0.000124	9.66E-05			0.000313	4.52E-05			rs764161705,COSM470990	13-Jun	.		ENST00000341509	Transcript			carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	ENSG00000188501	g.chr15:66853375C>A	15583			MODERATE		1.68	low	getma.org/?cm=msa&ty=f&p=LCTL_HUMAN&rb=33&re=503&var=G225V	getma.org/pdb.php?prot=LCTL_HUMAN&from=33&to=503&var=G225V	getma.org/?cm=var&var=hg19,15,66853375,C,A&fts=all	G225V	--	--	1																																		LCTL_uc002aqd.3_Missense_Mutation_p.G52V|LCTL_uc010bhw.2_Intron	0,1	1		probably_damaging(1)	p.G225V	NM_207338	NP_997221		deleterious(0.01)	0,1	LCTL_HUMAN	LCTL	HGNC	Q6UWM7	LCTL_HUMAN			B3KQY0_HUMAN		6	806	-			UPI00002520EC	225			Extracellular (Potential).		SNV	LCTL,missense_variant,p.Gly225Val,ENST00000341509,NM_207338.3;LCTL,missense_variant,p.Gly52Val,ENST00000537670,NM_001278562.1;LCTL,downstream_gene_variant,,ENST00000563438,;LCTL,downstream_gene_variant,,ENST00000562179,;LCTL,intron_variant,,ENST00000565875,;	uc002aqc.2	c.674G>T	806/3147	2	2			c.674G>T						15	SNP	c.(673-675)GGC>GTC	48	48			ovary(2)	2	Broad	lactase-like precursor			66853375		0.602	ENSG00000188501	8536	g.chr15:66853375C>A	carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds							-9.852132	KEEP	10	4	0.285714286	66	64	10	4	0.285714286	8.961037	66	64	0.07767	1	0	0	0	0	1	0	0	0	--	--		0	A			LCTL_uc002aqd.3_Missense_Mutation_p.G52V|LCTL_uc010bhw.2_Intron	141	GBM-14-0871-TP	p.G225V	C	CTTGTACAGGCCGGTGCCGCG	NM_207338	NP_997221	66853375	Q6UWM7	LCTL_HUMAN	0			6	806	-	A	A			Missense_Mutation	225			Extracellular (Potential).			
LDHAL6B	0	broad.mit.edu	GRCh37	15	59499582	59499582	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-6191-01	TCGA-76-6191-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307144.4:c.443G>T	p.Arg148Leu	p.R148L	ENST00000307144	NM_033195.2	148	cGc/cTc	0			1			T	R/L	uc002agb.2	protein_coding	YES	CCDS10171.1			443/1146										0	c.(442-444)CGC>CTC			HAMAP:MF_00488,hmmpanther:PTHR11540,hmmpanther:PTHR11540:SF11,Gene3D:3.40.50.720,Pfam_domain:PF00056,TIGRFAM_domain:TIGR01771,PIRSF_domain:PIRSF000102,Superfamily_domains:SSF51735	lactate dehydrogenase A-like 6B	NADH(DB00157)			ENSP00000302393		1-Jan										1-Jan	.		ENST00000307144	Transcript			glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding	ENSG00000171989	g.chr15:59499582G>T	21481			MODERATE		2.55	medium	getma.org/?cm=msa&ty=f&p=LDH6B_HUMAN&rb=70&re=210&var=R148L	getma.org/pdb.php?prot=LDH6B_HUMAN&from=70&to=210&var=R148L	getma.org/?cm=var&var=hg19,15,59499582,G,T&fts=all	R148L	--	--	1																																		MYO1E_uc002aga.2_Intron		1		possibly_damaging(0.691)	p.R148L	NM_033195	NP_149972		deleterious(0.01)		LDH6B_HUMAN	LDHAL6B	HGNC	Q9BYZ2	LDH6B_HUMAN					1	541	+			UPI000012E326	148				NAD (By similarity).	SNV	LDHAL6B,missense_variant,p.Arg148Leu,ENST00000307144,NM_033195.2;MYO1E,intron_variant,,ENST00000288235,NM_004998.3;MYO1E,intron_variant,,ENST00000560749,;MYO1E,intron_variant,,ENST00000559269,;MYO1E,downstream_gene_variant,,ENST00000559489,;MYO1E,upstream_gene_variant,,ENST00000558182,;MYO1E,intron_variant,,ENST00000560642,;	uc002agb.2	c.443G>T	541/1664	1	1			c.443G>T						15	SNP	c.(442-444)CGC>CTC	4	4				0	Broad	lactate dehydrogenase A-like 6B		NADH(DB00157)	59499582		0.438	ENSG00000171989	8542	g.chr15:59499582G>T	glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding							188.203106	KEEP	27	34	0.442622951	14	24	27	34	0.442622951	189.44841	14	24	0.625	1	0	0	0	0	1	0	0	0	--	--		0	T			MYO1E_uc002aga.2_Intron	274	GBM-76-6191-TP	p.R148L	G	GCAGGTGCACGCCAAGAAAAG	NM_033195	NP_149972	59499582	Q9BYZ2	LDH6B_HUMAN	0			1	541	+	T	T			Missense_Mutation	148				NAD (By similarity).		
LDLR	3949	broad.mit.edu	GRCh37	19	11233883	11233883	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0166-01	TCGA-06-0166-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000558518.1:c.2174C>A	p.Ser725Tyr	p.S725Y	ENST00000558518	NM_001195798.1	725	tCc/tAc	0			1			A	S/Y	uc002mqk.3	protein_coding	YES	CCDS12254.1			2174/2583									ovary(2)|skin(2)	4	c.(2173-2175)TCC>TAC			Low_complexity_(Seg):seg,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF195	low density lipoprotein receptor precursor	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)			ENSP00000454071		15/18									COSM2150194	15/18	.		ENST00000558518	Transcript	1		cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	ENSG00000130164	g.chr19:11233883C>A	6547			MODERATE		2.24	medium	getma.org/?cm=msa&ty=f&p=LDLR_HUMAN&rb=657&re=856&var=S725Y	getma.org/pdb.php?prot=LDLR_HUMAN&from=657&to=856&var=S725Y	getma.org/?cm=var&var=hg19,19,11233883,C,A&fts=all	S725Y	--	--	1																																		LDLR_uc010xlk.1_Missense_Mutation_p.S725Y|LDLR_uc010xll.1_Missense_Mutation_p.S684Y|LDLR_uc010xlm.1_Missense_Mutation_p.S578Y|LDLR_uc010xln.1_Missense_Mutation_p.S547Y|LDLR_uc010xlo.1_Missense_Mutation_p.S557Y	1	1		possibly_damaging(0.519)	p.S725Y	NM_000527	NP_000518		deleterious(0.02)	1	LDLR_HUMAN	LDLR	HGNC	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Q6LCH2_HUMAN,E1B4S5_HUMAN		15	2342	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	UPI00000015DF	725			Clustered O-linked oligosaccharides.|Extracellular (Potential).		SNV	LDLR,missense_variant,p.Ser810Tyr,ENST00000252444,;LDLR,missense_variant,p.Ser725Tyr,ENST00000558518,NM_001195798.1,NM_000527.4;LDLR,missense_variant,p.Ser725Tyr,ENST00000558013,;LDLR,missense_variant,p.Ser725Tyr,ENST00000557933,;LDLR,missense_variant,p.Ser684Tyr,ENST00000535915,NM_001195799.1;LDLR,missense_variant,p.Ser547Tyr,ENST00000545707,NM_001195803.1;LDLR,missense_variant,p.Ser557Tyr,ENST00000455727,NM_001195800.1;LDLR,upstream_gene_variant,,ENST00000560628,;LDLR,downstream_gene_variant,,ENST00000559340,;	uc002mqk.3	c.2174C>A	2361/3617	2	2			c.2174C>A						19	SNP	c.(2173-2175)TCC>TAC	18	18			ovary(2)|skin(2)	4	Broad	low density lipoprotein receptor precursor		Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	11233883		0.607	ENSG00000130164	8546	g.chr19:11233883C>A	cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	GBM(18;201 575 7820 21545)		1109	GBM(18;201 575 7820 21545)		1109	131.746348	KEEP	29	33	0.532258065	35	47	29	33	0.532258065	132.556	35	47	0.411765	1	0	0	0	0	1	0	0	0	--	--		0	A			LDLR_uc010xlk.1_Missense_Mutation_p.S725Y|LDLR_uc010xll.1_Missense_Mutation_p.S684Y|LDLR_uc010xlm.1_Missense_Mutation_p.S578Y|LDLR_uc010xln.1_Missense_Mutation_p.S547Y|LDLR_uc010xlo.1_Missense_Mutation_p.S557Y	31	GBM-06-0166-TP	p.S725Y	C	CAGGAGACATCCACCGTCAGG	NM_000527	NP_000518	11233883	P01130	LDLR_HUMAN	0		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	15	2342	+	A	A		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	Missense_Mutation	725			Clustered O-linked oligosaccharides.|Extracellular (Potential).			
LDLR	0	broad.mit.edu	GRCh37	19	11224247	11224247	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-19-2625-01	TCGA-19-2625-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000558518.1:c.1395T>C	p.Tyr465=	p.Y465=	ENST00000558518	NM_001195798.1	465	taT/taC	0			1			C	Y	uc002mqk.3	protein_coding	YES	CCDS12254.1			1395/2583									ovary(2)|skin(2)	4	c.(1393-1395)TAT>TAC			PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF195,Pfam_domain:PF00058,Gene3D:2.120.10.30,Superfamily_domains:SSF63825	low density lipoprotein receptor precursor	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)			ENSP00000454071		18-Oct									COSM3403750	18-Oct	.		ENST00000558518	Transcript	1		cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	ENSG00000130164	g.chr19:11224247T>C	6547			LOW								--	--	1																																		LDLR_uc010xlk.1_Silent_p.Y465Y|LDLR_uc010xll.1_Silent_p.Y424Y|LDLR_uc010xlm.1_Silent_p.Y318Y|LDLR_uc010xln.1_Silent_p.Y338Y|LDLR_uc010xlo.1_Silent_p.Y297Y	1	1			p.Y465Y	NM_000527	NP_000518			1	LDLR_HUMAN	LDLR	HGNC	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Q6LCH2_HUMAN,E1B4S5_HUMAN		10	1563	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	UPI00000015DF	465			LDL-receptor class B 2.|Extracellular (Potential).		SNV	LDLR,synonymous_variant,p.=,ENST00000252444,;LDLR,synonymous_variant,p.=,ENST00000558518,NM_001195798.1,NM_000527.4;LDLR,synonymous_variant,p.=,ENST00000558013,;LDLR,synonymous_variant,p.=,ENST00000557933,;LDLR,synonymous_variant,p.=,ENST00000535915,NM_001195799.1;LDLR,synonymous_variant,p.=,ENST00000545707,NM_001195803.1;LDLR,synonymous_variant,p.=,ENST00000455727,NM_001195800.1;LDLR,synonymous_variant,p.=,ENST00000560467,;LDLR,synonymous_variant,p.=,ENST00000559340,;LDLR,downstream_gene_variant,,ENST00000560173,;	uc002mqk.3	c.1395T>C	1582/3617	4	4			c.1395T>C						19	SNP	c.(1393-1395)TAT>TAC	43	43			ovary(2)|skin(2)	4	Broad	low density lipoprotein receptor precursor		Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	11224247		0.622	ENSG00000130164	8546	g.chr19:11224247T>C	cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	GBM(18;201 575 7820 21545)		1109	GBM(18;201 575 7820 21545)		1109	60.413958	KEEP	22	8	-1	39	29	22	8	-1	64.891273	39	29	0.258824	1	0	0	0	0	0	0	1	0	--	--		0	C			LDLR_uc010xlk.1_Silent_p.Y465Y|LDLR_uc010xll.1_Silent_p.Y424Y|LDLR_uc010xlm.1_Silent_p.Y318Y|LDLR_uc010xln.1_Silent_p.Y338Y|LDLR_uc010xlo.1_Silent_p.Y297Y	165	GBM-19-2625-TP	p.Y465Y	T	TCTCTTCCTATGACACCGTCA	NM_000527	NP_000518	11224247	P01130	LDLR_HUMAN	0		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	10	1563	+	C	C		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	Silent	465			LDL-receptor class B 2.|Extracellular (Potential).			
LDLRAD2	0	broad.mit.edu	GRCh37	1	22140914	22140914	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-2494-01	TCGA-32-2494-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344642.2:c.109C>G	p.Gln37Glu	p.Q37E	ENST00000344642	NM_001013693.2	37	Cag/Gag	0			1			G	Q/E	uc001bfg.1	protein_coding	YES	CCDS30624.1			109/819										0	c.(109-111)CAG>GAG			hmmpanther:PTHR24652:SF54,hmmpanther:PTHR24652,Gene3D:2.60.120.290,Superfamily_domains:SSF49854	low density lipoprotein receptor class A domain				ENSP00000340988		5-Feb									COSM3400340	5-Feb	.		ENST00000344642	Transcript				integral to membrane	receptor activity	ENSG00000187942	g.chr1:22140914C>G	32071			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=LRAD2_HUMAN&rb=1&re=170&var=Q37E	NA	getma.org/?cm=var&var=hg19,1,22140914,C,G&fts=all	Q37E	--	--	1																																			1	1		benign(0.183)	p.Q37E	NM_001013693	NP_001013715		deleterious(0.01)	1	LRAD2_HUMAN	LDLRAD2	HGNC	Q5SZI1	LRAD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)			2	296	+		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	UPI0000470177	37			Extracellular (Potential).		SNV	LDLRAD2,missense_variant,p.Gln37Glu,ENST00000344642,NM_001013693.2;LDLRAD2,missense_variant,p.Gln37Glu,ENST00000543870,;	uc001bfg.1	c.109C>G	296/4012	3	3			c.109C>G						1	SNP	c.(109-111)CAG>GAG	5	5				0	Broad	low density lipoprotein receptor class A domain			22140914		0.448	ENSG00000187942	8548	g.chr1:22140914C>G		integral to membrane	receptor activity							6.852678	KEEP	3	2	-1	14	9	3	2	-1	7.345388	14	9	0.272727	1	0	0	0	0	1	0	0	0	--	--		0	G				236	GBM-32-2494-TP	p.Q37E	C	ACTGTGCGGGCAGACGTGGCA	NM_001013693	NP_001013715	22140914	Q5SZI1	LRAD2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	2	296	+	G	G		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	Missense_Mutation	37			Extracellular (Potential).			
LECT1	0	broad.mit.edu	GRCh37	13	53307443	53307443	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-2499-01	TCGA-28-2499-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377962.3:c.265T>C	p.Ser89Pro	p.S89P	ENST00000377962		89	Tca/Cca	0			1			G	S/P	uc001vhf.2	protein_coding	YES	CCDS9437.1			265/1005									ovary(2)	2	c.(265-267)TCA>CCA			hmmpanther:PTHR14064,hmmpanther:PTHR14064:SF6	leukocyte cell derived chemotaxin 1 isoform 1				ENSP00000367198		7-Mar									COSM3399421	7-Mar	.		ENST00000377962	Transcript			cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane		ENSG00000136110	g.chr13:53307443A>G	17005			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=LECT1_HUMAN&rb=1&re=103&var=S89P	NA	getma.org/?cm=var&var=hg19,13,53307443,A,G&fts=all	S89P	--	--	1																																		LECT1_uc001vhg.2_Missense_Mutation_p.S89P|LECT1_uc001vhh.2_Missense_Mutation_p.S116P	1	1		possibly_damaging(0.528)	p.S89P	NM_007015	NP_008946		deleterious(0.04)	1	LECT1_HUMAN	LECT1	HGNC	O75829	LECT1_HUMAN		GBM - Glioblastoma multiforme(99;3.38e-08)	E9PKI9_HUMAN		3	376	-		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	UPI000003F666	89					SNV	LECT1,missense_variant,p.Ser89Pro,ENST00000448904,NM_001011705.1,NM_007015.2;LECT1,missense_variant,p.Ser89Pro,ENST00000377962,;LECT1,missense_variant,p.Ser11Pro,ENST00000431550,;	uc001vhf.2	c.265T>C	344/1410	3	3			c.265T>C						13	SNP	c.(265-267)TCA>CCA	61	61			ovary(2)	2	Broad	leukocyte cell derived chemotaxin 1 isoform 1			53307443		0.363	ENSG00000136110	8554	g.chr13:53307443A>G	cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane								468.108795	KEEP	72	64	-1	19	16	72	64	-1	480.491819	19	16	0.793548	1	0	0	0	0	1	0	0	0	--	--		0	G			LECT1_uc001vhg.2_Missense_Mutation_p.S89P|LECT1_uc001vhh.2_Missense_Mutation_p.S116P	208	GBM-28-2499-TP	p.S89P	A	ATTTCCATTGACCCATCTTGT	NM_007015	NP_008946	53307443	O75829	LECT1_HUMAN	0		GBM - Glioblastoma multiforme(99;3.38e-08)	3	376	-	G	G		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	Missense_Mutation	89						
LEFTY2	0	broad.mit.edu	GRCh37	1	226127121	226127121	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01	TCGA-14-0790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366820.5:c.677C>T	p.Ala226Val	p.A226V	ENST00000366820	NM_003240.3	226	gCg/gTg	0			1			A	A/V	uc001hpt.1	protein_coding	YES	CCDS1549.1			677/1101										0	c.(676-678)GCG>GTG			hmmpanther:PTHR11848:SF7,hmmpanther:PTHR11848,PIRSF_domain:PIRSF037402,Prints_domain:PR01427	endometrial bleeding associated factor				ENSP00000355785		4-Mar									COSM1601726	4-Mar	.		ENST00000366820	Transcript	1		cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	ENSG00000143768	g.chr1:226127121G>A	3122			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=LFTY2_HUMAN&rb=14&re=238&var=A226V	NA	getma.org/?cm=var&var=hg19,1,226127121,G,A&fts=all	A226V	--	--	1																																		LEFTY2_uc010pvk.1_Missense_Mutation_p.A192V|LEFTY2_uc009xek.1_Intron	1	1		benign(0.081)	p.A226V	NM_003240	NP_003231		tolerated(0.08)	1	LFTY2_HUMAN	LEFTY2	HGNC	O00292	LFTY2_HUMAN					3	757	-	Breast(184;0.197)		UPI0000136CBB	226					SNV	LEFTY2,missense_variant,p.Ala226Val,ENST00000366820,NM_003240.3;LEFTY2,missense_variant,p.Ala192Val,ENST00000420304,NM_001172425.1;RP4-559A3.6,upstream_gene_variant,,ENST00000513672,;LEFTY2,downstream_gene_variant,,ENST00000474493,;	uc001hpt.1	c.677C>T	1026/2287	2	2			c.677C>T						1	SNP	c.(676-678)GCG>GTG	45	45				0	Broad	endometrial bleeding associated factor			226127121		0.701	ENSG00000143768	8558	g.chr1:226127121G>A	cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	Colon(172;116 2643 9098 43333)			Colon(172;116 2643 9098 43333)			41.462418	KEEP	11	11	-1	5	11	11	11	-1	41.700144	5	11	0.6	1	0	0	0	0	1	0	0	0	--	--		0	A			LEFTY2_uc010pvk.1_Missense_Mutation_p.A192V|LEFTY2_uc009xek.1_Intron	137	GBM-14-0790-TP	p.A226V	G	CCCGGCTGGCGCCCCCTGCGA	NM_003240	NP_003231	226127121	O00292	LFTY2_HUMAN	0			3	757	-	A	A	Breast(184;0.197)		Missense_Mutation	226						
LEFTY2	0	broad.mit.edu	GRCh37	1	226127598	226127598	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01	TCGA-19-5951-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366820.5:c.355C>T	p.Arg119Trp	p.R119W	ENST00000366820	NM_003240.3	119	Cgg/Tgg	0			1			A	R/W	uc001hpt.1	protein_coding	YES	CCDS1549.1			355/1101										0	c.(355-357)CGG>TGG			hmmpanther:PTHR11848:SF7,hmmpanther:PTHR11848,Pfam_domain:PF00688,PIRSF_domain:PIRSF037402,Prints_domain:PR01427	endometrial bleeding associated factor				ENSP00000355785		4-Feb	9.12E-06								rs746371252,COSM3400368	4-Feb	.		ENST00000366820	Transcript	1		cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	ENSG00000143768	g.chr1:226127598G>A	3122			MODERATE		2.28	medium	getma.org/?cm=msa&ty=f&p=LFTY2_HUMAN&rb=14&re=238&var=R119W	NA	getma.org/?cm=var&var=hg19,1,226127598,G,A&fts=all	R119W	--	--	1																																		LEFTY2_uc010pvk.1_Intron|LEFTY2_uc009xek.1_Intron	0,1	1		probably_damaging(0.959)	p.R119W	NM_003240	NP_003231		deleterious(0)	0,1	LFTY2_HUMAN	LEFTY2	HGNC	O00292	LFTY2_HUMAN					2	435	-	Breast(184;0.197)		UPI0000136CBB	119					SNV	LEFTY2,missense_variant,p.Arg119Trp,ENST00000366820,NM_003240.3;LEFTY2,intron_variant,,ENST00000420304,NM_001172425.1;RP4-559A3.6,upstream_gene_variant,,ENST00000513672,;LEFTY2,non_coding_transcript_exon_variant,,ENST00000474493,;	uc001hpt.1	c.355C>T	704/2287	2	2			c.355C>T						1	SNP	c.(355-357)CGG>TGG	20	20				0	Broad	endometrial bleeding associated factor			226127598		0.741	ENSG00000143768	8558	g.chr1:226127598G>A	cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	Colon(172;116 2643 9098 43333)			Colon(172;116 2643 9098 43333)			23.453374	KEEP	3	4	-1	3	3	3	4	-1	23.474502	3	3	0.538462	1	0	0	0	0	1	0	0	0	--	--		0	A			LEFTY2_uc010pvk.1_Intron|LEFTY2_uc009xek.1_Intron	171	GBM-19-5951-TP	p.R119W	G	TGGAAGAGCCGCAGCACGGCC	NM_003240	NP_003231	226127598	O00292	LFTY2_HUMAN	0			2	435	-	A	A	Breast(184;0.197)		Missense_Mutation	119						
LEKR1	0	broad.mit.edu	GRCh37	3	156710933	156710933	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01	TCGA-12-0821-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000470811.1:c.64G>A	p.Glu22Lys	p.E22K	ENST00000470811		22	Gaa/Aaa	0			1			A	E/K	uc003fba.1	protein_coding					64/1167										0	c.(64-66)GAA>AAA			Coiled-coils_(Ncoils):Coil	leucine, glutamate and lysine rich 1				ENSP00000418214		14-Oct									COSM3408382,COSM3408383	14-Oct	.		ENST00000470811	Transcript						ENSG00000197980	g.chr3:156710933G>A	33765			MODERATE		2.135	medium	getma.org/?cm=msa&ty=f&p=LEKR1_HUMAN&rb=1&re=386&var=E22K	NA	getma.org/?cm=var&var=hg19,3,156710933,G,A&fts=all	E22K	--	--	1																																			1,1			probably_damaging(0.999)	p.E22K	NM_001004316	NP_001004316		deleterious(0)	1,1	LEKR1_HUMAN	LEKR1	HGNC	Q6ZMV7	LEKR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)				10	1399	+			UPI0000425F3D	42					SNV	LEKR1,missense_variant,p.Glu22Lys,ENST00000470811,;LEKR1,missense_variant,p.Glu326Lys,ENST00000356539,NM_001004316.2;RP11-6F2.3,upstream_gene_variant,,ENST00000487061,;	uc003fba.1	c.64G>A	1399/2881	1	1			c.64G>A						3	SNP	c.(64-66)GAA>AAA	54	54				0	Broad	leucine, glutamate and lysine rich 1			156710933		0.348	ENSG00000197980	8559	g.chr3:156710933G>A										-20.658514	KEEP	5	1	-1	85	66	5	1	-1	11.560626	85	66	0.041958	1	0	0	0	0	1	0	0	0	--	--		0	A				123	GBM-12-0821-TP	p.E22K	G	AGCATTACAGGAAGAGCTGAC	NM_001004316	NP_001004316	156710933	Q6ZMV7	LEKR1_HUMAN	0	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		10	1399	+	A	A			Missense_Mutation	42						
LEKR1	0	broad.mit.edu	GRCh37	3	156763371	156763371	+	synonymous_variant	Silent	SNP	C	C	T	rs144318565		TCGA-32-2632-01	TCGA-32-2632-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000470811.1:c.999C>T	p.Arg333=	p.R333=	ENST00000470811		333	cgC/cgT	0			1			T	R	uc003fba.1	protein_coding					999/1167										0	c.(997-999)CGC>CGT				leucine, glutamate and lysine rich 1				ENSP00000418214		14/14									COSM3005323,COSM3005324	14/14	.		ENST00000470811	Transcript						ENSG00000197980	g.chr3:156763371C>T	33765			LOW								--	--	1																																			1,1	1			p.R333R	NM_001004316	NP_001004316			1,1	LEKR1_HUMAN	LEKR1	HGNC	Q6ZMV7	LEKR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)				14	2334	+			UPI0000425F3D	Error:Variant_position_missing_in_D3DNK7_after_alignment					SNV	LEKR1,synonymous_variant,p.=,ENST00000470811,;LEKR1,synonymous_variant,p.=,ENST00000356539,NM_001004316.2;	uc003fba.1	c.999C>T	2334/2881	2	2			c.999C>T						3	SNP	c.(997-999)CGC>CGT	47	47				0	Broad	leucine, glutamate and lysine rich 1			156763371		0.552	ENSG00000197980	8559	g.chr3:156763371C>T										157.032817	KEEP	38	24	-1	68	66	38	24	-1	161.484079	68	66	0.32948	1	0	0	0	0	0	0	1	0	--	--		0	T				240	GBM-32-2632-TP	p.R333R	C	CCAACCTGCGCGGGGTGTCAA	NM_001004316	NP_001004316	156763371	Q6ZMV7	LEKR1_HUMAN	0	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		14	2334	+	T	T			Silent	Error:Variant_position_missing_in_D3DNK7_after_alignment						
LELP1	0	broad.mit.edu	GRCh37	1	153177307	153177307	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368747.1:c.124C>T	p.Arg42Cys	p.R42C	ENST00000368747	NM_001010857.2	42	Cgc/Tgc	0		T:0	1	T:0		T	R/C	uc001fbl.2	protein_coding	YES	CCDS30869.1			124/297									ovary(1)	1	c.(124-126)CGC>TGC			Pfam_domain:PF15042,hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF11	late cornified envelope-like proline-rich 1		T:0		ENSP00000357736	T:0	2-Feb	0.000107		0.000173	0.000347		4.50E-05		0.000303	rs573106359,COSM298198	2-Feb	.		ENST00000368747	Transcript		T:0.0002				ENSG00000203784	g.chr1:153177307C>T	32046			MODERATE								--	--	1																																			0,1	1		probably_damaging(0.942)	p.R42C	NM_001010857	NP_001010857	T:0.001	deleterious_low_confidence(0)	0,1	LELP1_HUMAN	LELP1	HGNC	Q5T871	LELP1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)				2	234	+	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		UPI000015D3CE	42			Cys/Pro-rich.		SNV	LELP1,missense_variant,p.Arg42Cys,ENST00000368747,NM_001010857.2;	uc001fbl.2	c.124C>T	234/523	1	1			c.124C>T						1	SNP	c.(124-126)CGC>TGC	7	7			ovary(1)	1	Broad	late cornified envelope-like proline-rich 1			153177307		0.552	ENSG00000203784	8560	g.chr1:153177307C>T										554.13917	KEEP	82	107	-1	55	83	82	107	-1	556.452877	55	83	0.594595	1	0	0	0	0	1	0	0	0	--	--		0	T				271	GBM-76-4932-TP	p.R42C	C	GCTGCTGCAACGCTGTTTCGA	NM_001010857	NP_001010857	153177307	Q5T871	LELP1_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.171)		2	234	+	T	T	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Missense_Mutation	42			Cys/Pro-rich.			
LEMD2	0	broad.mit.edu	GRCh37	6	33740529	33740529	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000293760.5:c.1388G>T	p.Arg463Leu	p.R463L	ENST00000293760	NM_181336.3	463	cGa/cTa	0			1			A	R/L	uc011drm.1	protein_coding	YES	CCDS4785.1			1388/1512									central_nervous_system(1)	1	c.(1387-1389)CGA>CTA			hmmpanther:PTHR13428,hmmpanther:PTHR13428:SF8,Pfam_domain:PF09402	LEM domain containing 2 isoform 1				ENSP00000293760		9-Sep	8.24E-06					1.54E-05			rs748521374,COSM3411017	9-Sep	.		ENST00000293760	Transcript				integral to nuclear inner membrane		ENSG00000161904	g.chr6:33740529C>A	21244			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=LEMD2_HUMAN&rb=251&re=496&var=R463L	getma.org/pdb.php?prot=LEMD2_HUMAN&from=251&to=496&var=R463L	getma.org/?cm=var&var=hg19,6,33740529,C,A&fts=all	R463L	--	--	1																																		LEMD2_uc010jvg.2_Missense_Mutation_p.R172L|LEMD2_uc011drl.1_Missense_Mutation_p.R161L|LEMD2_uc003ofe.2_Missense_Mutation_p.R161L	0,1	1		probably_damaging(0.935)	p.R463L	NM_181336	NP_851853		deleterious(0)	0,1	LEMD2_HUMAN	LEMD2	HGNC	Q8NC56	LEMD2_HUMAN			D6RBV0_HUMAN,D6R958_HUMAN		9	1401	-			UPI000006DAEA	463					SNV	LEMD2,missense_variant,p.Arg463Leu,ENST00000293760,NM_181336.3;LEMD2,missense_variant,p.Arg45Leu,ENST00000506578,;LEMD2,missense_variant,p.Arg161Leu,ENST00000508327,NM_001143944.1;LEMD2,downstream_gene_variant,,ENST00000442696,;LEMD2,downstream_gene_variant,,ENST00000504692,;LEMD2,downstream_gene_variant,,ENST00000502643,;LEMD2,3_prime_UTR_variant,,ENST00000421671,;LEMD2,non_coding_transcript_exon_variant,,ENST00000511171,;LEMD2,downstream_gene_variant,,ENST00000513832,;LEMD2,downstream_gene_variant,,ENST00000510598,;	uc011drm.1	c.1388G>T	1408/2958	1	1			c.1388G>T						6	SNP	c.(1387-1389)CGA>CTA	59	59			central_nervous_system(1)	1	Broad	LEM domain containing 2 isoform 1			33740529		0.627	ENSG00000161904	8562	g.chr6:33740529C>A		integral to nuclear inner membrane								5.212852	KEEP	2	1	0.333333333	13	7	2	1	0.333333333	7.333791	13	7	0.157895	1	0	0	0	0	1	0	0	0	--	--		0	A			LEMD2_uc010jvg.2_Missense_Mutation_p.R172L|LEMD2_uc011drl.1_Missense_Mutation_p.R161L|LEMD2_uc003ofe.2_Missense_Mutation_p.R161L	160	GBM-19-1790-TP	p.R463L	C	CTCCACAGCTCGGTCCCAGAC	NM_181336	NP_851853	33740529	Q8NC56	LEMD2_HUMAN	0			9	1401	-	A	A			Missense_Mutation	463						
LEMD3	0	broad.mit.edu	GRCh37	12	65633734	65633734	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308330.2:c.1947G>A	p.Leu649=	p.L649=	ENST00000308330	NM_014319.4	649	ctG/ctA	0			1			A	L	uc001ssl.1	protein_coding	YES	CCDS8972.1			1947/2736									central_nervous_system(3)|ovary(1)	4	c.(1945-1947)CTG>CTA			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR13428:SF9,hmmpanther:PTHR13428,Pfam_domain:PF09402	LEM domain containing 3				ENSP00000308369		13-Jul									COSM3398994	13-Jul	.		ENST00000308330	Transcript	1		negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	ENSG00000174106	g.chr12:65633734G>A	28887			LOW								--	--	1																																		LEMD3_uc009zqo.1_Silent_p.L648L	1	1			p.L649L	NM_014319	NP_055134			1	MAN1_HUMAN	LEMD3	HGNC	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	B4DI45_HUMAN		7	1953	+			UPI000012EB75	649					SNV	LEMD3,synonymous_variant,p.=,ENST00000308330,NM_014319.4,NM_001167614.1;LEMD3,upstream_gene_variant,,ENST00000542032,;LEMD3,upstream_gene_variant,,ENST00000544506,;	uc001ssl.1	c.1947G>A	1973/4764	2	2			c.1947G>A						12	SNP	c.(1945-1947)CTG>CTA	20	20			central_nervous_system(3)|ovary(1)	4	Broad	LEM domain containing 3			65633734		0.294	ENSG00000174106	8563	g.chr12:65633734G>A	negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding							67.713821	KEEP	13	20	-1	34	36	13	20	-1	70.023654	34	36	0.320988	1	0	0	0	0	0	0	1	0	--	--		0	A			LEMD3_uc009zqo.1_Silent_p.L648L	129	GBM-12-5295-TP	p.L649L	G	GTGTCGTTCTGCGTTACATGA	NM_014319	NP_055134	65633734	Q9Y2U8	MAN1_HUMAN	0	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	7	1953	+	A	A			Silent	649						
LEMD3	0	broad.mit.edu	GRCh37	12	65564282	65564282	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-27-2518-01	TCGA-27-2518-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308330.2:c.906C>A	p.Ala302=	p.A302=	ENST00000308330	NM_014319.4	302	gcC/gcA	0			1			A	A	uc001ssl.1	protein_coding	YES	CCDS8972.1			906/2736									central_nervous_system(3)|ovary(1)	4	c.(904-906)GCC>GCA			hmmpanther:PTHR13428:SF9,hmmpanther:PTHR13428	LEM domain containing 3				ENSP00000308369		13-Jan									COSM2157276	13-Jan	.		ENST00000308330	Transcript	1		negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	ENSG00000174106	g.chr12:65564282C>A	28887			LOW								--	--	1																																		LEMD3_uc009zqo.1_Silent_p.A302A	1	1			p.A302A	NM_014319	NP_055134			1	MAN1_HUMAN	LEMD3	HGNC	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	B4DI45_HUMAN		1	912	+			UPI000012EB75	302					SNV	LEMD3,synonymous_variant,p.=,ENST00000308330,NM_014319.4,NM_001167614.1;LEMD3,intron_variant,,ENST00000541171,;	uc001ssl.1	c.906C>A	932/4764	1	1			c.906C>A						12	SNP	c.(904-906)GCC>GCA	53	53			central_nervous_system(3)|ovary(1)	4	Broad	LEM domain containing 3			65564282		0.622	ENSG00000174106	8563	g.chr12:65564282C>A	negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding							29.407898	KEEP	6	8	0.571428571	27	20	6	8	0.571428571	32.261878	27	20	0.23913	1	0	0	0	0	0	0	1	0	--	--		0	A			LEMD3_uc009zqo.1_Silent_p.A302A	198	GBM-27-2518-TP	p.A302A	C	CTAAATCGGCCGGCGGCAGGC	NM_014319	NP_055134	65564282	Q9Y2U8	MAN1_HUMAN	0	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	1	912	+	A	A			Silent	302						
LEMD3	0	broad.mit.edu	GRCh37	12	65632357	65632357	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-4208-01	TCGA-32-4208-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308330.2:c.1771A>G	p.Ile591Val	p.I591V	ENST00000308330	NM_014319.4	591	Ata/Gta	0			1			G	I/V	uc001ssl.1	protein_coding	YES	CCDS8972.1			1771/2736									central_nervous_system(3)|ovary(1)	4	c.(1771-1773)ATA>GTA			hmmpanther:PTHR13428:SF9,hmmpanther:PTHR13428,Pfam_domain:PF09402	LEM domain containing 3				ENSP00000308369		13-May									COSM3398993	13-May	.		ENST00000308330	Transcript	1		negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	ENSG00000174106	g.chr12:65632357A>G	28887			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=MAN1_HUMAN&rb=504&re=751&var=I591V	NA	getma.org/?cm=var&var=hg19,12,65632357,A,G&fts=all	I591V	--	--	1																																		LEMD3_uc009zqo.1_Missense_Mutation_p.I590V	1	1		probably_damaging(0.944)	p.I591V	NM_014319	NP_055134		deleterious(0.04)	1	MAN1_HUMAN	LEMD3	HGNC	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	B4DI45_HUMAN		5	1777	+			UPI000012EB75	591					SNV	LEMD3,missense_variant,p.Ile591Val,ENST00000308330,NM_014319.4,NM_001167614.1;LEMD3,upstream_gene_variant,,ENST00000542032,;LEMD3,upstream_gene_variant,,ENST00000544506,;	uc001ssl.1	c.1771A>G	1797/4764	3	3			c.1771A>G						12	SNP	c.(1771-1773)ATA>GTA	3	3			central_nervous_system(3)|ovary(1)	4	Broad	LEM domain containing 3			65632357		0.313	ENSG00000174106	8563	g.chr12:65632357A>G	negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding							73.28376	KEEP	15	24	-1	122	143	15	24	-1	112.724337	122	143	0.127148	1	0	0	0	0	1	0	0	0	--	--		0	G			LEMD3_uc009zqo.1_Missense_Mutation_p.I590V	243	GBM-32-4208-TP	p.I591V	A	AGATGTTGGAATAAGGTAAAG	NM_014319	NP_055134	65632357	Q9Y2U8	MAN1_HUMAN	0	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	5	1777	+	G	G			Missense_Mutation	591						
LEMD3	0	broad.mit.edu	GRCh37	12	65637180	65637180	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-4209-01	TCGA-32-4209-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308330.2:c.2318A>G	p.Asp773Gly	p.D773G	ENST00000308330	NM_014319.4	773	gAt/gGt	0			1			G	D/G	uc001ssl.1	protein_coding	YES	CCDS8972.1			2318/2736									central_nervous_system(3)|ovary(1)	4	c.(2317-2319)GAT>GGT			hmmpanther:PTHR13428:SF9,hmmpanther:PTHR13428	LEM domain containing 3				ENSP00000308369		13-Oct	8.24E-06		8.65E-05						rs750770845,COSM3398995	13-Oct	.		ENST00000308330	Transcript	1		negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	ENSG00000174106	g.chr12:65637180A>G	28887			MODERATE		1.485	low	getma.org/?cm=msa&ty=f&p=MAN1_HUMAN&rb=752&re=911&var=D773G	getma.org/pdb.php?prot=MAN1_HUMAN&from=752&to=911&var=D773G	getma.org/?cm=var&var=hg19,12,65637180,A,G&fts=all	D773G	--	--	1																																		LEMD3_uc009zqo.1_Missense_Mutation_p.D772G	0,1	1		probably_damaging(0.997)	p.D773G	NM_014319	NP_055134		tolerated(0.16)	0,1	MAN1_HUMAN	LEMD3	HGNC	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	B4DI45_HUMAN		10	2324	+			UPI000012EB75	773			Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.		SNV	LEMD3,missense_variant,p.Asp773Gly,ENST00000308330,NM_014319.4,NM_001167614.1;LEMD3,non_coding_transcript_exon_variant,,ENST00000542032,;LEMD3,upstream_gene_variant,,ENST00000539442,;LEMD3,upstream_gene_variant,,ENST00000545026,;LEMD3,upstream_gene_variant,,ENST00000544506,;	uc001ssl.1	c.2318A>G	2344/4764	3	3			c.2318A>G						12	SNP	c.(2317-2319)GAT>GGT	58	58			central_nervous_system(3)|ovary(1)	4	Broad	LEM domain containing 3			65637180		0.279	ENSG00000174106	8563	g.chr12:65637180A>G	negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding							174.790496	KEEP	40	27	-1	90	115	40	27	-1	189.304214	90	115	0.239316	1	0	0	0	0	1	0	0	0	--	--		0	G			LEMD3_uc009zqo.1_Missense_Mutation_p.D772G	244	GBM-32-4209-TP	p.D773G	A	TTTCATTTAGATAGAAGAAAT	NM_014319	NP_055134	65637180	Q9Y2U8	MAN1_HUMAN	0	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	10	2324	+	G	G			Missense_Mutation	773			Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.			
LENG1	79165	broad.mit.edu	GRCh37	19	54660572	54660573	+	frameshift_variant	Frame_Shift_Del	DEL	TC	TC	-			TCGA-06-2557-01	TCGA-06-2557-01	TC	TC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222224.3:c.503_504del	p.Arg168ThrfsTer5	p.R168Tfs*5	ENST00000222224	NM_024316.1	168	aGA/a	0			1			-	R/X	uc002qdm.2	protein_coding	YES	CCDS12881.1			503-504/795									ovary(1)	1	c.(502-504)AGAfs			hmmpanther:PTHR22093	leukocyte receptor cluster (LRC) member 1				ENSP00000222224		4-Mar									COSM2152550	4-Mar	.		ENST00000222224	Transcript						ENSG00000105617	g.chr19:54660572_54660573delTC	15502			HIGH								--	--	1																																			1	1			p.R168fs	NM_024316	NP_077292			1	LENG1_HUMAN	LENG1	HGNC	Q96BZ8	LENG1_HUMAN					3	516_517	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		UPI0000073A30	168					deletion	LENG1,frameshift_variant,p.Arg168ThrfsTer5,ENST00000222224,NM_024316.1;CNOT3,downstream_gene_variant,,ENST00000406403,;CNOT3,downstream_gene_variant,,ENST00000221232,NM_014516.3;CNOT3,downstream_gene_variant,,ENST00000358389,;TMC4,downstream_gene_variant,,ENST00000376591,NM_001145303.1,NM_144686.2;TMC4,downstream_gene_variant,,ENST00000301187,;CNOT3,downstream_gene_variant,,ENST00000457463,;TMC4,downstream_gene_variant,,ENST00000416963,;CNOT3,downstream_gene_variant,,ENST00000471126,;CNOT3,downstream_gene_variant,,ENST00000496327,;CNOT3,downstream_gene_variant,,ENST00000482247,;CNOT3,downstream_gene_variant,,ENST00000447684,;CNOT3,downstream_gene_variant,,ENST00000489953,;TMC4,downstream_gene_variant,,ENST00000468343,;TMC4,downstream_gene_variant,,ENST00000465790,;TMC4,downstream_gene_variant,,ENST00000449860,;TMC4,downstream_gene_variant,,ENST00000494594,;	uc002qdm.2	c.503_504delGA	690-691/1542	5	5			c.503_504delGA						19	DEL	c.(502-504)AGAfs	33	33			ovary(1)	1	Broad	leukocyte receptor cluster (LRC) member 1			54660573		0.634	ENSG00000105617	8565	g.chr19:54660572_54660573delTC																							0.38	1	1	0	1	0	0	0	0	0	--	--		0	-				81	GBM-06-2557-TP	p.R168fs	TC	CGCCGTGCTGTCTCTTCTTCCC	NM_024316	NP_077292	54660572	Q96BZ8	LENG1_HUMAN	0			3	516_517	-	-	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		Frame_Shift_Del	168						
LENG8	114823	broad.mit.edu	GRCh37	19	54967619	54967619	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-0173-01	TCGA-06-0173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326764.5:c.1420C>A	p.Arg474=	p.R474=	ENST00000326764	NM_052925.2	474	Cga/Aga	0			1			A	R	uc002qfv.1	protein_coding	YES	CCDS12894.1			1420/2403									central_nervous_system(1)|pancreas(1)	2	c.(1309-1311)CGA>AGA			hmmpanther:PTHR12436:SF4,hmmpanther:PTHR12436	RecName: Full=Leukocyte receptor cluster member 8;				ENSP00000318374		16-Oct									COSM2150411	16-Oct	.		ENST00000326764	Transcript					protein binding	ENSG00000167615	g.chr19:54967619C>A	15500			LOW								--	--	1																																		LENG8_uc002qfw.2_Silent_p.R474R	1	1			p.R437R					1	LENG8_HUMAN	LENG8	HGNC	Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	E7EWC7_HUMAN,C9J1N5_HUMAN,B0VJY8_HUMAN		9	1453	+	Ovarian(34;0.19)		UPI0000074196	437					SNV	LENG8,synonymous_variant,p.=,ENST00000431846,;LENG8,synonymous_variant,p.=,ENST00000376526,;LENG8,synonymous_variant,p.=,ENST00000326764,NM_052925.2;LENG8,intron_variant,,ENST00000376514,;LENG8,downstream_gene_variant,,ENST00000439657,;LENG8,upstream_gene_variant,,ENST00000421200,;LENG8,downstream_gene_variant,,ENST00000443957,;LENG8,downstream_gene_variant,,ENST00000436479,;LENG8,downstream_gene_variant,,ENST00000462541,;	uc002qfv.1	c.1309C>A	1899/3991	2	2			c.1309C>A						19	SNP	c.(1309-1311)CGA>AGA	27	27			central_nervous_system(1)|pancreas(1)	2	Broad	RecName: Full=Leukocyte receptor cluster member 8;			54967619		0.682	ENSG00000167615	8566	g.chr19:54967619C>A			protein binding							52.028541	KEEP	5	11	0.6875	7	11	5	11	0.6875	52.055099	7	11	0.46875	1	0	0	0	0	0	0	1	0	--	--		0	A			LENG8_uc002qfw.2_Silent_p.R474R	36	GBM-06-0173-TP	p.R437R	C	GGATCGGGGCCGAGGCAGGGC			54967619	Q96PV6	LENG8_HUMAN	0		GBM - Glioblastoma multiforme(193;0.139)	9	1453	+	A	A	Ovarian(34;0.19)		Silent	437						
LENG8	114823	broad.mit.edu	GRCh37	19	54968952	54968952	+	synonymous_variant	Silent	SNP	C	C	A	rs142424676	by1000genomes	TCGA-06-0214-01	TCGA-06-0214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326764.5:c.1758C>A	p.Val586=	p.V586=	ENST00000326764	NM_052925.2	586	gtC/gtA	0			1			A	V	uc002qfv.1	protein_coding	YES	CCDS12894.1			1758/2403									central_nervous_system(1)|pancreas(1)	2	c.(1645-1647)GTC>GTA			hmmpanther:PTHR12436:SF4,hmmpanther:PTHR12436,Pfam_domain:PF03399	RecName: Full=Leukocyte receptor cluster member 8;				ENSP00000318374		16-Dec									COSM3404596	16-Dec	.		ENST00000326764	Transcript					protein binding	ENSG00000167615	g.chr19:54968952C>A	15500			LOW								--	--	1																																		LENG8_uc002qfw.2_Silent_p.V586V	1	1			p.V549V					1	LENG8_HUMAN	LENG8	HGNC	Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	E7EWC7_HUMAN,C9J1N5_HUMAN,B0VJY8_HUMAN		11	1791	+	Ovarian(34;0.19)		UPI0000074196	549					SNV	LENG8,synonymous_variant,p.=,ENST00000431846,;LENG8,synonymous_variant,p.=,ENST00000376526,;LENG8,synonymous_variant,p.=,ENST00000326764,NM_052925.2;LENG8,intron_variant,,ENST00000376514,;LENG9,downstream_gene_variant,,ENST00000333834,NM_198988.1;LENG8,downstream_gene_variant,,ENST00000439657,;LENG8,upstream_gene_variant,,ENST00000421200,;LENG8,downstream_gene_variant,,ENST00000462541,;	uc002qfv.1	c.1647C>A	2237/3991	2	2			c.1647C>A						19	SNP	c.(1645-1647)GTC>GTA	20	20			central_nervous_system(1)|pancreas(1)	2	Broad	RecName: Full=Leukocyte receptor cluster member 8;			54968952		0.537	ENSG00000167615	8566	g.chr19:54968952C>A			protein binding							-26.744178	KEEP	4	7	0.636363636	131	105	4	7	0.636363636	19.585837	131	105	0.04717	1	0	0	0	0	0	0	1	0	--	--		0	A			LENG8_uc002qfw.2_Silent_p.V586V	50	GBM-06-0214-TP	p.V549V	C	TGTGCATGGTCAAGTGCCACT			54968952	Q96PV6	LENG8_HUMAN	0		GBM - Glioblastoma multiforme(193;0.139)	11	1791	+	A	A	Ovarian(34;0.19)		Silent	549						
LENG8	114823	broad.mit.edu	GRCh37	19	54969780	54969780	+	intron_variant	Intron	SNP	C	C	T			TCGA-06-2559-01	TCGA-06-2559-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326764.5:c.2240+80C>T		p.*747*	ENST00000326764	NM_052925.2			0			1			T		uc002qfv.1	protein_coding	YES	CCDS12894.1			-/2403									central_nervous_system(1)|pancreas(1)	2	c.(2209-2211)CGC>TGC				RecName: Full=Leukocyte receptor cluster member 8;				ENSP00000318374			0.000117	0.000788				7.95E-05		0.000194	rs761308840		common_variant		ENST00000326764	Transcript					protein binding	ENSG00000167615	g.chr19:54969780C>T	15500			MODIFIER	15/15							--	--	1																																		LENG8_uc002qfw.2_Intron		1			p.R737C						LENG8_HUMAN	LENG8	HGNC	Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	E7EWC7_HUMAN,C9J1N5_HUMAN,B0VJY8_HUMAN		14	2353	+	Ovarian(34;0.19)		UPI0000074196	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					SNV	LENG8,missense_variant,p.Arg774Cys,ENST00000431846,;LENG8,missense_variant,p.Arg737Cys,ENST00000376526,;LENG8,intron_variant,,ENST00000326764,NM_052925.2;LENG8,intron_variant,,ENST00000421200,;LENG8,intron_variant,,ENST00000376514,;LENG9,downstream_gene_variant,,ENST00000333834,NM_198988.1;LENG8,downstream_gene_variant,,ENST00000439657,;LENG8,downstream_gene_variant,,ENST00000462541,;	uc002qfv.1	c.2209C>T	-/3991	1	1			c.2209C>T						19	SNP	c.(2209-2211)CGC>TGC	7	7			central_nervous_system(1)|pancreas(1)	2	Broad	RecName: Full=Leukocyte receptor cluster member 8;			54969780		0.602	ENSG00000167615	8566	g.chr19:54969780C>T			protein binding							14.271245	KEEP	0	6	-1	7	4	0	6	-1	14.639632	7	4	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	T			LENG8_uc002qfw.2_Intron	83	GBM-06-2559-TP	p.R737C	C	AGCTCCTGGCCGCAGGCCTCC			54969780	Q96PV6	LENG8_HUMAN	0		GBM - Glioblastoma multiforme(193;0.139)	14	2353	+	T	T	Ovarian(34;0.19)		Missense_Mutation	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						
LENG8	0	broad.mit.edu	GRCh37	19	54967251	54967251	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-28-1753-01	TCGA-28-1753-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326764.5:c.1131T>G	p.Gly377=	p.G377=	ENST00000326764	NM_052925.2	377	ggT/ggG	0			1			G	G	uc002qfv.1	protein_coding	YES	CCDS12894.1			1131/2403									central_nervous_system(1)|pancreas(1)	2	c.(1018-1020)GGT>GGG			Low_complexity_(Seg):seg,hmmpanther:PTHR12436:SF4,hmmpanther:PTHR12436	RecName: Full=Leukocyte receptor cluster member 8;				ENSP00000318374		16-Sep									rs760944983,COSM302544	16-Sep	.		ENST00000326764	Transcript					protein binding	ENSG00000167615	g.chr19:54967251T>G	15500			LOW								--	--	1																																		LENG8_uc002qfw.2_Silent_p.G377G	0,1	1			p.G340G					0,1	LENG8_HUMAN	LENG8	HGNC	Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	E7EWC7_HUMAN,C9J1N5_HUMAN,B0VJY8_HUMAN		8	1164	+	Ovarian(34;0.19)		UPI0000074196	340					SNV	LENG8,synonymous_variant,p.=,ENST00000431846,;LENG8,synonymous_variant,p.=,ENST00000376526,;LENG8,synonymous_variant,p.=,ENST00000326764,NM_052925.2;LENG8,intron_variant,,ENST00000376514,;LENG8,downstream_gene_variant,,ENST00000439657,;LENG8,upstream_gene_variant,,ENST00000421200,;LENG8,downstream_gene_variant,,ENST00000443957,;LENG8,downstream_gene_variant,,ENST00000436479,;LENG8,downstream_gene_variant,,ENST00000462541,;	uc002qfv.1	c.1020T>G	1610/3991	3	3			c.1020T>G						19	SNP	c.(1018-1020)GGT>GGG	53	53			central_nervous_system(1)|pancreas(1)	2	Broad	RecName: Full=Leukocyte receptor cluster member 8;			54967251		0.687	ENSG00000167615	8566	g.chr19:54967251T>G			protein binding							2.982892	KEEP	7	9	-1	23	19	7	9	-1	7.184261	23	19	0.151515	1	0	0	0	0	0	0	1	0	--	--		0	G			LENG8_uc002qfw.2_Silent_p.G377G	207	GBM-28-1753-TP	p.G340G	T	GGGGCGGGGGTGCCCCGTCCC			54967251	Q96PV6	LENG8_HUMAN	0		GBM - Glioblastoma multiforme(193;0.139)	8	1164	+	G	G	Ovarian(34;0.19)		Silent	340						
LEO1	0	broad.mit.edu	GRCh37	15	52258194	52258194	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-27-2524-01	TCGA-27-2524-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299601.5:c.566A>G	p.Asp189Gly	p.D189G	ENST00000299601	NM_138792.2	189	gAt/gGt	0			1			C	D/G	uc002abo.2	protein_coding	YES	CCDS10146.1			566/2001										0	c.(565-567)GAT>GGT			hmmpanther:PTHR23146:SF0,hmmpanther:PTHR23146	Leo1, Paf1/RNA polymerase II complex component,				ENSP00000299601		12-Feb									COSM3401816	12-Feb	.		ENST00000299601	Transcript			histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	ENSG00000166477	g.chr15:52258194T>C	30401			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=LEO1_HUMAN&rb=1&re=200&var=D189G	NA	getma.org/?cm=var&var=hg19,15,52258194,T,C&fts=all	D189G	--	--	1																																		LEO1_uc010bfd.2_Missense_Mutation_p.D189G	1	1		benign(0.122)	p.D189G	NM_138792	NP_620147		deleterious_low_confidence(0.01)	1	LEO1_HUMAN	LEO1	HGNC	Q8WVC0	LEO1_HUMAN		all cancers(107;0.00264)			2	582	-			UPI0000071CA0	189			Asp-rich.		SNV	LEO1,missense_variant,p.Asp189Gly,ENST00000299601,NM_138792.2;LEO1,missense_variant,p.Asp189Gly,ENST00000315141,NM_001286430.1;MAPK6,intron_variant,,ENST00000560802,;	uc002abo.2	c.566A>G	627/2193	4	4			c.566A>G						15	SNP	c.(565-567)GAT>GGT	46	46				0	Broad	Leo1, Paf1/RNA polymerase II complex component,			52258194		0.433	ENSG00000166477	8568	g.chr15:52258194T>C	histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)			Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)			12.343859	KEEP	16	24	-1	273	249	16	24	-1	104.946355	273	249	0.077075	1	0	0	0	0	1	0	0	0	--	--		0	C			LEO1_uc010bfd.2_Missense_Mutation_p.D189G	202	GBM-27-2524-TP	p.D189G	T	CTCCTCATCATCTGTGTTCTG	NM_138792	NP_620147	52258194	Q8WVC0	LEO1_HUMAN	0		all cancers(107;0.00264)	2	582	-	C	C			Missense_Mutation	189			Asp-rich.			
LEPR	3953	broad.mit.edu	GRCh37	1	66083830	66083830	+	splice_donor_variant	Splice_Site	SNP	G	G	T			TCGA-02-0047-01	TCGA-02-0047-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000349533.6:c.2395+1G>T		p.X799_splice	ENST00000349533	NM_002303.5	799		0			1			T		uc001dci.2	protein_coding	YES	CCDS631.1			2395/3498									skin(1)	1	c.e16+1				leptin receptor isoform 1				ENSP00000330393											COSM3400957,COSM3400956,COSM3400955		.		ENST00000349533	Transcript	1		energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	ENSG00000116678	g.chr1:66083830G>T	6554			HIGH	16/19							--	--	1																																		LEPR_uc001dcg.2_Splice_Site_p.D799_splice|LEPR_uc001dch.2_Splice_Site_p.D799_splice|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Splice_Site_p.D799_splice|LEPR_uc001dck.2_Splice_Site_p.D799_splice	1,1,1	1			p.D799_splice	NM_002303	NP_002294			1,1,1	LEPR_HUMAN	LEPR	HGNC	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	L0I9J6_HUMAN,A2RRQ4_HUMAN		16	2597	+			UPI000014C37B						SNV	LEPR,splice_donor_variant,,ENST00000349533,NM_002303.5;LEPR,splice_donor_variant,,ENST00000371060,NM_001198689.1,NM_001003679.3;LEPR,splice_donor_variant,,ENST00000371059,NM_001198687.1,NM_001003680.3;LEPR,splice_donor_variant,,ENST00000344610,;LEPR,splice_donor_variant,,ENST00000371058,NM_001198688.1;LEPR,intron_variant,,ENST00000406510,;LEPR,upstream_gene_variant,,ENST00000471762,;	uc001dci.2	c.2395_splice	-/8227	5	2			c.2395_splice						1	SNP	c.e16+1	45	45			skin(1)	1	Broad	leptin receptor isoform 1			66083830		0.259	ENSG00000116678	8570	g.chr1:66083830G>T	energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity							-12.65972	KEEP	2	4	0.333333333	65	58	2	4	0.333333333	13.955078	65	58	0.04878	1	0	0	0	0	0	0	0	1	--	--		0	T			LEPR_uc001dcg.2_Splice_Site_p.D799_splice|LEPR_uc001dch.2_Splice_Site_p.D799_splice|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Splice_Site_p.D799_splice|LEPR_uc001dck.2_Splice_Site_p.D799_splice	3	GBM-02-0047-TP	p.D799_splice	G	TATATCCATGGTAAGTTTACT	NM_002303	NP_002294	66083830	P48357	LEPR_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	16	2597	+	T	T			Splice_Site							
LEPRE1	0	broad.mit.edu	GRCh37	1	43213879	43213879	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0174-01	TCGA-06-0174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000236040.4:c.1830C>T	p.Arg610=	p.R610=	ENST00000236040	NM_001243246.1	610	cgC/cgT	0			1			A	R	uc001chv.2	protein_coding		CCDS472.2			1830/2211									ovary(3)|lung(1)	4	c.(1828-1830)CGC>CGT			PROSITE_profiles:PS51471,hmmpanther:PTHR14049:SF5,hmmpanther:PTHR14049,Pfam_domain:PF13640,SMART_domains:SM00702	leprecan 1 isoform 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)			ENSP00000296388		15-Dec	2.47E-05			0.000117		3.05E-05			rs780329868,COSM2169979,COSM2169980	15-Dec	.		ENST00000296388	Transcript	1		negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	ENSG00000117385	g.chr1:43213879G>A	19316			LOW								--	--	1																																		LEPRE1_uc001chw.2_Silent_p.R610R|LEPRE1_uc001chx.3_Silent_p.R610R	0,1,1				p.R610R	NM_022356	NP_071751			0,1,1	P3H1_HUMAN	LEPRE1	HGNC	Q32P28	P3H1_HUMAN			B4DTG8_HUMAN,B4DNM8_HUMAN		12	1943	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	UPI000003B0B3	610			Fe2OG dioxygenase.		SNV	LEPRE1,synonymous_variant,p.=,ENST00000236040,NM_001243246.1;LEPRE1,synonymous_variant,p.=,ENST00000397054,NM_022356.3,NM_001146289.1;LEPRE1,synonymous_variant,p.=,ENST00000296388,;LEPRE1,downstream_gene_variant,,ENST00000447502,;LEPRE1,upstream_gene_variant,,ENST00000462474,;LEPRE1,3_prime_UTR_variant,,ENST00000431412,;LEPRE1,non_coding_transcript_exon_variant,,ENST00000495874,;LEPRE1,non_coding_transcript_exon_variant,,ENST00000460031,;LEPRE1,non_coding_transcript_exon_variant,,ENST00000460831,;LEPRE1,downstream_gene_variant,,ENST00000481465,;LEPRE1,upstream_gene_variant,,ENST00000472802,;	uc001chv.2	c.1830C>T	1882/2585	2	2			c.1830C>T						1	SNP	c.(1828-1830)CGC>CGT	47	47			ovary(3)|lung(1)	4	Broad	leprecan 1 isoform 1		L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	43213879		0.602	ENSG00000117385	8571	g.chr1:43213879G>A	negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity							77.066749	KEEP	14	18	-1	19	22	14	18	-1	77.307188	19	22	0.431034	1	0	0	0	0	0	0	1	0	--	--		0	A			LEPRE1_uc001chw.2_Silent_p.R610R|LEPRE1_uc001chx.3_Silent_p.R610R	37	GBM-06-0174-TP	p.R610R	G	ACCTGTAGTCGCGGAAGGTGT	NM_022356	NP_071751	43213879	Q32P28	P3H1_HUMAN	0			12	1943	-	A	A	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	Silent	610			Fe2OG dioxygenase.			
LEPREL1	0	broad.mit.edu	GRCh37	3	189681756	189681756	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-2570-01	TCGA-06-2570-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319332.5:c.2025T>C	p.Tyr675=	p.Y675=	ENST00000319332	NM_018192.3	675	taT/taC	0			1			G	Y	uc011bsk.1	protein_coding	YES	CCDS3294.1			2025/2127									breast(3)|ovary(1)	4	c.(2023-2025)TAT>TAC			hmmpanther:PTHR14049,hmmpanther:PTHR14049:SF1	leprecan-like 1 isoform a	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)			ENSP00000316881		14/15									rs578158144,COSM2153134	14/15	.		ENST00000319332	Transcript	1		collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	ENSG00000090530	g.chr3:189681756A>G	19317			LOW								--	--	1																																		LEPREL1_uc003fsg.2_Silent_p.Y494Y	0,1	1			p.Y675Y	NM_018192	NP_060662			0,1	P3H2_HUMAN	LEPREL1	HGNC	Q8IVL5	P3H2_HUMAN	Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	D3DNV8_HUMAN,C9JSL4_HUMAN,C9J313_HUMAN		14	2413	-	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		UPI000007460B	675					SNV	LEPREL1,synonymous_variant,p.=,ENST00000319332,NM_018192.3;LEPREL1,synonymous_variant,p.=,ENST00000427335,NM_001134418.1;LEPREL1,non_coding_transcript_exon_variant,,ENST00000463171,;LEPREL1,non_coding_transcript_exon_variant,,ENST00000490940,;LEPREL1,downstream_gene_variant,,ENST00000467131,;	uc011bsk.1	c.2025T>C	2223/3509	3	3			c.2025T>C						3	SNP	c.(2023-2025)TAT>TAC	64	64			breast(3)|ovary(1)	4	Broad	leprecan-like 1 isoform a		L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	189681756		0.483	ENSG00000090530	8572	g.chr3:189681756A>G	collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity							382.371768	KEEP	55	62	-1	69	53	55	62	-1	382.389252	69	53	0.490476	1	0	0	0	0	0	0	1	0	--	--		0	G			LEPREL1_uc003fsg.2_Silent_p.Y494Y	91	GBM-06-2570-TP	p.Y675Y	A	CCAATTCTCTATAAAGTGGGT	NM_018192	NP_060662	189681756	Q8IVL5	P3H2_HUMAN	0	Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	14	2413	-	G	G	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Silent	675						
LEPREL1	0	broad.mit.edu	GRCh37	3	189700930	189700930	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T			TCGA-12-0615-01	TCGA-12-0615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319332.5:c.1230-1G>A		p.X410_splice	ENST00000319332	NM_018192.3			0			1			T		uc011bsk.1	protein_coding	YES	CCDS3294.1			1230/2127									breast(3)|ovary(1)	4	c.e8-1				leprecan-like 1 isoform a	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)			ENSP00000316881											COSM3408520		.		ENST00000319332	Transcript	1		collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	ENSG00000090530	g.chr3:189700930C>T	19317			HIGH	14-Jul							--	--	1																																		LEPREL1_uc003fsg.2_Splice_Site_p.R229_splice	1	1			p.R410_splice	NM_018192	NP_060662			1	P3H2_HUMAN	LEPREL1	HGNC	Q8IVL5	P3H2_HUMAN	Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	D3DNV8_HUMAN,C9JSL4_HUMAN,C9J313_HUMAN		8	1618	-	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		UPI000007460B						SNV	LEPREL1,splice_acceptor_variant,,ENST00000319332,NM_018192.3;LEPREL1,splice_acceptor_variant,,ENST00000427335,NM_001134418.1;LEPREL1,splice_acceptor_variant,,ENST00000470925,;LEPREL1,non_coding_transcript_exon_variant,,ENST00000475095,;	uc011bsk.1	c.1230_splice	-/3509	5	2			c.1230_splice						3	SNP	c.e8-1	29	29			breast(3)|ovary(1)	4	Broad	leprecan-like 1 isoform a		L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	189700930		0.393	ENSG00000090530	8572	g.chr3:189700930C>T	collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity							240.340966	KEEP	37	48	-1	95	110	37	48	-1	250.224409	95	110	0.295455	1	0	0	0	0	0	0	0	1	--	--		0	T			LEPREL1_uc003fsg.2_Splice_Site_p.R229_splice	117	GBM-12-0615-TP	p.R410_splice	C	TGAAGGGACCCTGCCCATTCA	NM_018192	NP_060662	189700930	Q8IVL5	P3H2_HUMAN	0	Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	8	1618	-	T	T	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Splice_Site							
LEPREL2	0	broad.mit.edu	GRCh37	12	6946911	6946911	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01	TCGA-02-0055-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396725.2:c.1724G>A	p.Arg575His	p.R575H	ENST00000396725		575	cGc/cAc	0			1			A		uc001qra.1	retained_intron															0	c.(1726-1728)CGC>CAC				leprecan-like 2 precursor	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)					14-Nov	2.48E-05					3.67E-05			rs781997100,COSM3399028,COSM3399027	14-Nov	.		ENST00000290510	Transcript			negative regulation of cell proliferation	endoplasmic reticulum	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	ENSG00000110811	g.chr12:6946911G>A	19318			MODIFIER								--	--	1																																		LEPREL2_uc001qqz.1_Missense_Mutation_p.R383H|LEPREL2_uc001qrb.1_Missense_Mutation_p.R383H|GNB3_uc001qrc.2_5'Flank|GNB3_uc001qrd.2_5'Flank	0,1,1				p.R576H	NM_014262	NP_055077			0,1,1		LEPREL2	HGNC	Q8IVL6	P3H3_HUMAN					14	1761	+				576			Fe2OG dioxygenase.		SNV	LEPREL2,missense_variant,p.Arg391His,ENST00000251761,NM_014262.3;LEPREL2,missense_variant,p.Arg575His,ENST00000396725,;GNB3,upstream_gene_variant,,ENST00000229264,NM_002075.2;GNB3,upstream_gene_variant,,ENST00000435982,;GNB3,upstream_gene_variant,,ENST00000541978,;GNB3,upstream_gene_variant,,ENST00000537035,;GNB3,upstream_gene_variant,,ENST00000541257,;LEPREL2,downstream_gene_variant,,ENST00000538102,;LEPREL2,non_coding_transcript_exon_variant,,ENST00000536140,;LEPREL2,non_coding_transcript_exon_variant,,ENST00000290510,;LEPREL2,non_coding_transcript_exon_variant,,ENST00000544200,;LEPREL2,non_coding_transcript_exon_variant,,ENST00000540406,;GNB3,upstream_gene_variant,,ENST00000540458,;LEPREL2,downstream_gene_variant,,ENST00000541956,;LEPREL2,downstream_gene_variant,,ENST00000544949,;GNB3,upstream_gene_variant,,ENST00000542868,;GNB3,upstream_gene_variant,,ENST00000539127,;LEPREL2,downstream_gene_variant,,ENST00000545596,;LEPREL2,downstream_gene_variant,,ENST00000542976,;LEPREL2,missense_variant,p.Ala576Thr,ENST00000606935,;	uc001qra.1	c.1727G>A	1260/2129	2	2			c.1727G>A						12	SNP	c.(1726-1728)CGC>CAC	43	43				0	Broad	leprecan-like 2 precursor		L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	6946911		0.652	ENSG00000110811	8573	g.chr12:6946911G>A	negative regulation of cell proliferation	endoplasmic reticulum	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity							43.818222	KEEP	8	10	-1	12	11	8	10	-1	44.036445	12	11	0.416667	1	0	0	0	0	1	0	0	0	--	--		0	A			LEPREL2_uc001qqz.1_Missense_Mutation_p.R383H|LEPREL2_uc001qrb.1_Missense_Mutation_p.R383H|GNB3_uc001qrc.2_5'Flank|GNB3_uc001qrd.2_5'Flank	4	GBM-02-0055-TP	p.R576H	G	CAAGAGCAGCGCATGGACCTG	NM_014262	NP_055077	6946911	Q8IVL6	P3H3_HUMAN	0			14	1761	+	A	A			Missense_Mutation	576			Fe2OG dioxygenase.			
LEPREL2	0	broad.mit.edu	GRCh37	12	6939135	6939135	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A			TCGA-19-2623-01	TCGA-19-2623-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290510.8:n.144G>A		*48*	ENST00000290510				0			1			A		uc001qra.1	retained_intron															0	c.(610-612)CGG>CAG				leprecan-like 2 precursor	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)					14-Jan									COSM3399026,COSM3399025	14-Jan	.		ENST00000290510	Transcript			negative regulation of cell proliferation	endoplasmic reticulum	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	ENSG00000110811	g.chr12:6939135G>A	19318			MODIFIER								--	--	1																																		LEPREL2_uc001qqz.1_Missense_Mutation_p.R11Q|LEPREL2_uc001qrb.1_Missense_Mutation_p.R11Q|GPR162_uc001qqy.1_Missense_Mutation_p.R139Q	1,1				p.R204Q	NM_014262	NP_055077			1,1		LEPREL2	HGNC	Q8IVL6	P3H3_HUMAN					4	645	+				204					SNV	LEPREL2,missense_variant,p.Arg19Gln,ENST00000251761,NM_014262.3;LEPREL2,missense_variant,p.Arg203Gln,ENST00000396725,;GPR162,missense_variant,p.Arg228Gln,ENST00000545321,;GPR162,downstream_gene_variant,,ENST00000311268,NM_019858.1;GPR162,downstream_gene_variant,,ENST00000428545,NM_014449.1;GPR162,downstream_gene_variant,,ENST00000382315,;LEPREL2,non_coding_transcript_exon_variant,,ENST00000544813,;LEPREL2,upstream_gene_variant,,ENST00000538102,;GPR162,downstream_gene_variant,,ENST00000542330,;LEPREL2,non_coding_transcript_exon_variant,,ENST00000536140,;LEPREL2,non_coding_transcript_exon_variant,,ENST00000290510,;GPR162,downstream_gene_variant,,ENST00000535220,;LEPREL2,upstream_gene_variant,,ENST00000541956,;LEPREL2,upstream_gene_variant,,ENST00000544200,;LEPREL2,upstream_gene_variant,,ENST00000544949,;LEPREL2,upstream_gene_variant,,ENST00000540406,;LEPREL2,upstream_gene_variant,,ENST00000545596,;LEPREL2,upstream_gene_variant,,ENST00000542976,;LEPREL2,missense_variant,p.Gly204Ser,ENST00000606935,;	uc001qra.1	c.611G>A	144/2129	2	2			c.611G>A						12	SNP	c.(610-612)CGG>CAG	34	34				0	Broad	leprecan-like 2 precursor		L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	6939135		0.602	ENSG00000110811	8573	g.chr12:6939135G>A	negative regulation of cell proliferation	endoplasmic reticulum	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity							-9.653278	KEEP	0	4	-1	41	50	0	4	-1	7.523717	41	50	0.05	1	0	0	0	0	1	0	0	0	--	--		0	A			LEPREL2_uc001qqz.1_Missense_Mutation_p.R11Q|LEPREL2_uc001qrb.1_Missense_Mutation_p.R11Q|GPR162_uc001qqy.1_Missense_Mutation_p.R139Q	163	GBM-19-2623-TP	p.R204Q	G	TCGGGAGTTCGGCCCCAGAGC	NM_014262	NP_055077	6939135	Q8IVL6	P3H3_HUMAN	0			4	645	+	A	A			Missense_Mutation	204						
LEPREL4	0	broad.mit.edu	GRCh37	17	39966036	39966036	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-5858-01	TCGA-06-5858-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355468.3:c.838A>G	p.Thr280Ala	p.T280A	ENST00000355468		280	Acc/Gcc	0			1			C	T/A	uc002hxt.2	protein_coding	YES	CCDS11408.1			838/1314										0	c.(838-840)ACC>GCC			hmmpanther:PTHR13986,hmmpanther:PTHR13986:SF4	synaptonemal complex protein SC65				ENSP00000347649		9-May									COSM3402896	9-May	.		ENST00000355468	Transcript			synaptonemal complex assembly	nucleolus|synaptonemal complex	binding	ENSG00000141696	g.chr17:39966036T>C	16946			MODERATE		0.36	neutral	getma.org/?cm=msa&ty=f&p=SC65_HUMAN&rb=201&re=400&var=T280A	NA	getma.org/?cm=var&var=hg19,17,39966036,T,C&fts=all	T280A	--	--	1																																		FKBP10_uc002hxv.2_5'Flank|SC65_uc002hxu.2_Missense_Mutation_p.T371A	1	1		benign(0.059)	p.T280A	NM_006455	NP_006446		deleterious(0.01)	1	SC65_HUMAN	LEPREL4	HGNC	Q92791	SC65_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.149)	K7EJ03_HUMAN,B4DVZ5_HUMAN		4	1122	-		Breast(137;0.000162)	UPI00001302A2	280					SNV	LEPREL4,missense_variant,p.Thr280Ala,ENST00000355468,;LEPREL4,missense_variant,p.Thr280Ala,ENST00000393928,NM_006455.2;LEPREL4,intron_variant,,ENST00000592026,;FKBP10,upstream_gene_variant,,ENST00000321562,NM_021939.3;FKBP10,upstream_gene_variant,,ENST00000585664,;FKBP10,upstream_gene_variant,,ENST00000585922,;LEPREL4,downstream_gene_variant,,ENST00000590496,;FKBP10,upstream_gene_variant,,ENST00000429461,;LEPREL4,intron_variant,,ENST00000587455,;FKBP10,upstream_gene_variant,,ENST00000489591,;LEPREL4,upstream_gene_variant,,ENST00000484247,;LEPREL4,downstream_gene_variant,,ENST00000467164,;LEPREL4,upstream_gene_variant,,ENST00000465097,;	uc002hxt.2	c.838A>G	1305/2791	4	4			c.838A>G						17	SNP	c.(838-840)ACC>GCC	41	41				0	Broad	synaptonemal complex protein SC65			39966036		0.562	ENSG00000141696	13647	g.chr17:39966036T>C	synaptonemal complex assembly	nucleolus|synaptonemal complex	binding							-11.032452	KEEP	2	3	-1	35	45	2	3	-1	7.194451	35	45	0.037975	1	0	0	0	0	1	0	0	0	--	--		0	C			FKBP10_uc002hxv.2_5'Flank|SC65_uc002hxu.2_Missense_Mutation_p.T371A	102	GBM-06-5858-TP	p.T280A	T	ACATTGGGGGTCAAATTGGCC	NM_006455	NP_006446	39966036	Q92791	SC65_HUMAN	0		BRCA - Breast invasive adenocarcinoma(366;0.149)	4	1122	-	C	C		Breast(137;0.000162)	Missense_Mutation	280						
LETM1	0	broad.mit.edu	GRCh37	4	1818642	1818642	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T			TCGA-27-1835-01	TCGA-27-1835-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302787.2:c.1744-1G>A		p.X582_splice	ENST00000302787	NM_012318.2			0			1			T		uc003gdv.2	protein_coding	YES	CCDS3355.1			1744/2220									central_nervous_system(1)	1	c.e12-1				leucine zipper-EF-hand containing transmembrane				ENSP00000305653											COSM2157263		.		ENST00000302787	Transcript	1		cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	ENSG00000168924	g.chr4:1818642C>T	6556			HIGH	13-Nov							--	--	1																																			1	1			p.D582_splice	NM_012318	NP_036450			1	LETM1_HUMAN	LETM1	HGNC	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		D3DVQ1_HUMAN		12	2041	-			UPI0000073989						SNV	LETM1,splice_acceptor_variant,,ENST00000302787,NM_012318.2;LETM1,downstream_gene_variant,,ENST00000510940,;	uc003gdv.2	c.1744_splice	-/5462	5	1			c.1744_splice						4	SNP	c.e12-1	11	11			central_nervous_system(1)	1	Broad	leucine zipper-EF-hand containing transmembrane			1818642		0.264	ENSG00000168924	8576	g.chr4:1818642C>T	cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding							1064.104689	KEEP	394	439	-1	86	80	394	439	-1	1084.411013	86	80	0.732057	1	0	0	0	0	0	0	0	1	--	--		0	T				194	GBM-27-1835-TP	p.D582_splice	C	CCTGCAAGTCCTAATAAAATT	NM_012318	NP_036450	1818642	O95202	LETM1_HUMAN	0	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		12	2041	-	T	T			Splice_Site							
LFNG	0	broad.mit.edu	GRCh37	7	2559902	2559902	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-41-3392-01	TCGA-41-3392-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222725.5:c.408delC	p.Trp137GlyfsTer8	p.W137Gfs*8	ENST00000222725	NM_001040167.1	136	aCc/ac	0			1			-	T/X	uc003smf.2	protein_coding	YES	CCDS34587.1			407/1140										0	c.(406-408)ACCfs			PIRSF_domain:PIRSF038073,Pfam_domain:PF02434,hmmpanther:PTHR10811,hmmpanther:PTHR10811:SF7	lunatic fringe isoform a				ENSP00000222725		8-Jan										8-Jan	.		ENST00000222725	Transcript	1		organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	ENSG00000106003	g.chr7:2559902delC	6560	1		HIGH								--	--	1																																		LFNG_uc003smg.2_Frame_Shift_Del_p.T136fs		1			p.T136fs	NM_001040167	NP_001035257				LFNG_HUMAN	LFNG	HGNC	Q8NES3	LFNG_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)			1	424	+		Ovarian(82;0.0112)	UPI000012E5D5	136			Lumenal (Potential).		deletion	LFNG,frameshift_variant,p.Trp137GlyfsTer8,ENST00000222725,NM_001040167.1;LFNG,frameshift_variant,p.Trp137GlyfsTer8,ENST00000359574,NM_001040168.1;LFNG,intron_variant,,ENST00000402506,NM_001166355.1;LFNG,intron_variant,,ENST00000402045,NM_002304.2;LFNG,intron_variant,,ENST00000338732,;LFNG,upstream_gene_variant,,ENST00000493850,;	uc003smf.2	c.407delC	427/2377	5	5			c.407delC						7	DEL	c.(406-408)ACCfs	29	29				0	Broad	lunatic fringe isoform a			2559902		0.562	ENSG00000106003	8579	g.chr7:2559902delC	organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity																				0.34	1	1	0	1	0	0	0	0	0	--	--		0	-			LFNG_uc003smg.2_Frame_Shift_Del_p.T136fs	254	GBM-41-3392-TP	p.T136fs	C	CTGCTGGAGACCTGGATCTCG	NM_001040167	NP_001035257	2559902	Q8NES3	LFNG_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)	1	424	+	-	-		Ovarian(82;0.0112)	Frame_Shift_Del	136			Lumenal (Potential).			
LGALS12	0	broad.mit.edu	GRCh37	11	63273794	63273794	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T			TCGA-32-1980-01	TCGA-32-1980-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394618.3:c.-71C>T		*24*	ENST00000394618	NM_033101.3			0			1			T		uc001nxa.2	protein_coding		CCDS8045.1			-/1011									ovary(2)	2	c.(-72--68)AACGC>AATGC				lectin, galactoside-binding, soluble, 12 isoform				ENSP00000378116		9-Jan										9-Jan	.		ENST00000394618	Transcript			apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding	ENSG00000133317	g.chr11:63273794C>T	15788			MODIFIER								--	--	1																																		LGALS12_uc001nxb.2_Translation_Start_Site|LGALS12_uc001nxc.2_Translation_Start_Site|LGALS12_uc001nxd.2_5'Flank|LGALS12_uc001nxe.2_5'Flank|LGALS12_uc009yot.2_5'Flank						NM_033101	NP_149092				LEG12_HUMAN	LGALS12	HGNC	Q96DT0	LEG12_HUMAN					1	271	+			UPI00000012C6						SNV	LGALS12,5_prime_UTR_variant,,ENST00000255684,NM_001142536.1;LGALS12,5_prime_UTR_variant,,ENST00000394618,NM_033101.3,NM_001142535.1;LGALS12,upstream_gene_variant,,ENST00000415491,NM_001142537.1;LGALS12,upstream_gene_variant,,ENST00000425950,NM_001142538.1;LGALS12,upstream_gene_variant,,ENST00000340246,;	uc001nxa.2	c.-70C>T	221/1618	1	1			c.-70C>T						11	SNP	c.(-72--68)AACGC>AATGC	5	5			ovary(2)	2	Broad	lectin, galactoside-binding, soluble, 12 isoform			63273794		0.637	ENSG00000133317	8581	g.chr11:63273794C>T	apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding							6.885287	KEEP	1	3	-1	8	15	1	3	-1	9.413979	8	15	0.166667	1	0	0	0	0	0	0	0	0	--	--		0	T			LGALS12_uc001nxb.2_Translation_Start_Site|LGALS12_uc001nxc.2_Translation_Start_Site|LGALS12_uc001nxd.2_5'Flank|LGALS12_uc001nxe.2_5'Flank|LGALS12_uc009yot.2_5'Flank	231	GBM-32-1980-TP		C	AGCATTAAAACGCTGCAGGTC	NM_033101	NP_149092	63273794	Q96DT0	LEG12_HUMAN	0			1	271	+	T	T			Translation_Start_Site							
LGALS13	29124	broad.mit.edu	GRCh37	19	40095888	40095888	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0648-01	TCGA-06-0648-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221797.4:c.163C>T	p.Arg55Ter	p.R55*	ENST00000221797	NM_013268.2	55	Cga/Tga	0		T:0	1	T:0		T	R/*	uc002omb.2	protein_coding	YES	CCDS33024.1			163/420									ovary(1)	1	c.(163-165)CGA>TGA			Gene3D:2.60.120.200,Pfam_domain:PF00337,PROSITE_profiles:PS51304,hmmpanther:PTHR11346,hmmpanther:PTHR11346:SF94,SMART_domains:SM00276,SMART_domains:SM00908,Superfamily_domains:SSF49899	galectin-13		T:0		ENSP00000221797	T:0	4-Mar	4.94E-05					7.49E-05		6.06E-05	rs534285827,COSM2151397	4-Mar	.		ENST00000221797	Transcript		T:0.0002	lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding	ENSG00000105198	g.chr19:40095888C>T	15449			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,19,40095888,C,T&fts=all	R55*	--	--	1																																			0,1	1			p.R55*	NM_013268	NP_037400	T:0.001		0,1	PP13_HUMAN	LGALS13	HGNC	Q9UHV8	PP13_HUMAN	Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)		Q1M314_HUMAN		3	203	+	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		UPI0000032F23	55			Galectin.		SNV	LGALS13,stop_gained,p.Arg55Ter,ENST00000221797,NM_013268.2;LGALS13,stop_gained,p.Arg25Ter,ENST00000600141,;LGALS13,non_coding_transcript_exon_variant,,ENST00000600546,;	uc002omb.2	c.163C>T	208/602	5	1			c.163C>T						19	SNP	c.(163-165)CGA>TGA	9	9			ovary(1)	1	Broad	galectin-13			40095888		0.498	ENSG00000105198	8582	g.chr19:40095888C>T	lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding							52.756862	KEEP	14	7	-1	43	24	14	7	-1	58.020552	43	24	0.238095	1	0	0	0	0	0	1	0	0	--	--		0	T				61	GBM-06-0648-TP	p.R55*	C	CTTCCGTTTCCGAGTGCACTT	NM_013268	NP_037400	40095888	Q9UHV8	PP13_HUMAN	0	Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)		3	203	+	T	T	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Nonsense_Mutation	55			Galectin.			
LGALS13	29124	broad.mit.edu	GRCh37	19	40097889	40097889	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221797.4:c.330C>T	p.Tyr110=	p.Y110=	ENST00000221797	NM_013268.2	110	taC/taT	0			1			T	Y	uc002omb.2	protein_coding	YES	CCDS33024.1			330/420									ovary(1)	1	c.(328-330)TAC>TAT			Gene3D:2.60.120.200,Pfam_domain:PF00337,PROSITE_profiles:PS51304,hmmpanther:PTHR11346,hmmpanther:PTHR11346:SF94,SMART_domains:SM00276,SMART_domains:SM00908,Superfamily_domains:SSF49899	galectin-13				ENSP00000221797		4-Apr	4.12E-05			0.000578					rs763680574,COSM2152209	4-Apr	common_variant		ENST00000221797	Transcript			lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding	ENSG00000105198	g.chr19:40097889C>T	15449			LOW								--	--	1																																			0,1	1			p.Y110Y	NM_013268	NP_037400			0,1	PP13_HUMAN	LGALS13	HGNC	Q9UHV8	PP13_HUMAN	Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)		Q1M314_HUMAN		4	370	+	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		UPI0000032F23	110			Galectin.		SNV	LGALS13,synonymous_variant,p.=,ENST00000221797,NM_013268.2;LGALS13,synonymous_variant,p.=,ENST00000600141,;LGALS13,non_coding_transcript_exon_variant,,ENST00000600546,;	uc002omb.2	c.330C>T	375/602	2	2			c.330C>T						19	SNP	c.(328-330)TAC>TAT	48	48			ovary(1)	1	Broad	galectin-13			40097889		0.463	ENSG00000105198	8582	g.chr19:40097889C>T	lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding							111.388585	KEEP	26	22	-1	65	72	26	22	-1	120.263702	65	72	0.257485	1	0	0	0	0	0	0	1	0	--	--		0	T				73	GBM-06-0877-TP	p.Y110Y	C	TACGCATTTACGGCTTTGTCC	NM_013268	NP_037400	40097889	Q9UHV8	PP13_HUMAN	0	Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)		4	370	+	T	T	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Silent	110			Galectin.			
LGALS14	0	broad.mit.edu	GRCh37	19	40197279	40197279	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01	TCGA-19-5954-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392052.3:c.58G>A	p.Val20Met	p.V20M	ENST00000392052	NM_020129.2	20	Gtg/Atg	0		A:0.0008	1	A:0		A	V/M	uc002omg.2	protein_coding		CCDS46073.1			58/420									ovary(1)|skin(1)	2	c.(58-60)GTG>ATG			PROSITE_profiles:PS51304,hmmpanther:PTHR11346:SF92,hmmpanther:PTHR11346,Gene3D:2.60.120.200,Pfam_domain:PF00337,SMART_domains:SM00276,SMART_domains:SM00908,Superfamily_domains:SSF49899	lectin, galactoside-binding, soluble, 14 isoform		A:0		ENSP00000375905	A:0	4-Feb	0.000107	0.000192				0.000165			rs199912882,COSM2156783,COSM2156784	4-Feb	.		ENST00000392052	Transcript		A:0.0002		nucleus	sugar binding	ENSG00000006659	g.chr19:40197279G>A	30054			MODERATE		2.775	medium	getma.org/?cm=msa&ty=f&p=PPL13_HUMAN&rb=5&re=137&var=V20M	getma.org/pdb.php?prot=PPL13_HUMAN&from=5&to=137&var=V20M	getma.org/?cm=var&var=hg19,19,40197279,G,A&fts=all	V20M	--	--	1																																		LGALS14_uc002omf.2_Missense_Mutation_p.V49M	0,1,1			possibly_damaging(0.826)	p.V20M	NM_020129	NP_064514	A:0	tolerated(0.09)	0,1,1	PPL13_HUMAN	LGALS14	HGNC	Q8TCE9	PPL13_HUMAN	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)				2	281	+	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	UPI0000073276	20			Galectin.		SNV	LGALS14,missense_variant,p.Val20Met,ENST00000392052,NM_020129.2;LGALS14,missense_variant,p.Val49Met,ENST00000360675,NM_203471.1;LGALS14,intron_variant,,ENST00000601802,;	uc002omg.2	c.58G>A	281/774	1	1			c.58G>A						19	SNP	c.(58-60)GTG>ATG	64	64			ovary(1)|skin(1)	2	Broad	lectin, galactoside-binding, soluble, 14 isoform			40197279		0.498	ENSG00000006659	8583	g.chr19:40197279G>A		nucleus	sugar binding							218.769683	KEEP	42	49	-1	62	79	42	49	-1	220.699474	62	79	0.39267	1	0	0	0	0	1	0	0	0	--	--		0	A			LGALS14_uc002omf.2_Missense_Mutation_p.V49M	174	GBM-19-5954-TP	p.V20M	G	TGGTTCGTGCGTGATAATCAC	NM_020129	NP_064514	40197279	Q8TCE9	PPL13_HUMAN	0	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)		2	281	+	A	A	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Missense_Mutation	20			Galectin.			
LGALS8	3964	broad.mit.edu	GRCh37	1	236704996	236704996	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0879-01	TCGA-06-0879-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000526589.1:c.508A>G	p.Ile170Val	p.I170V	ENST00000526589		170	Ata/Gta	0			1			G	I/V	uc001hxz.1	protein_coding		CCDS1612.1			508/954									ovary(1)	1	c.(508-510)ATA>GTA			hmmpanther:PTHR11346,hmmpanther:PTHR11346:SF22	galectin-8 isoform b				ENSP00000342139		11-Jul	8.24E-06							6.45E-05	rs775638029,COSM2152284	11-Jul	.		ENST00000341872	Transcript				cytoplasm|extracellular space	sugar binding	ENSG00000116977	g.chr1:236704996A>G	6569			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=LEG8_HUMAN&rb=152&re=185&var=I170V	NA	getma.org/?cm=var&var=hg19,1,236704996,A,G&fts=all	I170V	--	--	1																																		LGALS8_uc001hxw.1_Missense_Mutation_p.I170V|LGALS8_uc001hxy.1_Missense_Mutation_p.I170V|LGALS8_uc009xgg.1_RNA|LGALS8_uc001hya.1_Missense_Mutation_p.I170V|LGALS8_uc001hyb.1_Missense_Mutation_p.I170V|LGALS8_uc001hyc.1_Intron	0,1			benign(0.071)	p.I170V	NM_201543	NP_963837		tolerated(0.26)	0,1	LEG8_HUMAN	LGALS8	HGNC	O00214	LEG8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		E9PPL1_HUMAN,E9PJ77_HUMAN,B1ANM0_HUMAN		7	889	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	UPI0000169BB8	170					SNV	LGALS8,missense_variant,p.Ile170Val,ENST00000526589,;LGALS8,missense_variant,p.Ile170Val,ENST00000366584,NM_201544.2;LGALS8,missense_variant,p.Ile170Val,ENST00000450372,NM_006499.4;LGALS8,missense_variant,p.Ile170Val,ENST00000341872,NM_201543.2;LGALS8,missense_variant,p.Ile143Val,ENST00000323938,;LGALS8,missense_variant,p.Ile170Val,ENST00000526634,;LGALS8,missense_variant,p.Ile170Val,ENST00000352231,NM_201545.2;LGALS8,missense_variant,p.Ile170Val,ENST00000527974,;LGALS8,missense_variant,p.Ile170Val,ENST00000406509,;LGALS8,intron_variant,,ENST00000416919,;LGALS8,intron_variant,,ENST00000525042,;LGALS8,intron_variant,,ENST00000238181,;LGALS8,downstream_gene_variant,,ENST00000454943,;LGALS8,downstream_gene_variant,,ENST00000481485,;LGALS8,downstream_gene_variant,,ENST00000430527,;LGALS8,downstream_gene_variant,,ENST00000529489,;RP11-385F5.4,intron_variant,,ENST00000433131,;RP11-385F5.5,upstream_gene_variant,,ENST00000608547,;LGALS8,3_prime_UTR_variant,,ENST00000434231,;LGALS8,non_coding_transcript_exon_variant,,ENST00000366583,;LGALS8,non_coding_transcript_exon_variant,,ENST00000528259,;LGALS8,non_coding_transcript_exon_variant,,ENST00000526652,;LGALS8,intron_variant,,ENST00000528782,;LGALS8,intron_variant,,ENST00000442397,;LGALS8,upstream_gene_variant,,ENST00000489586,;LGALS8,downstream_gene_variant,,ENST00000532826,;LGALS8,upstream_gene_variant,,ENST00000525789,;LGALS8,upstream_gene_variant,,ENST00000529796,;LGALS8,upstream_gene_variant,,ENST00000532640,;	uc001hxz.1	c.508A>G	889/2437	3	3			c.508A>G						1	SNP	c.(508-510)ATA>GTA	1	1			ovary(1)	1	Broad	galectin-8 isoform b			236704996		0.303	ENSG00000116977	8590	g.chr1:236704996A>G		cytoplasm|extracellular space	sugar binding							87.043282	KEEP	11	23	-1	16	24	11	23	-1	87.223984	16	24	0.440678	1	0	0	0	0	1	0	0	0	--	--		0	G			LGALS8_uc001hxw.1_Missense_Mutation_p.I170V|LGALS8_uc001hxy.1_Missense_Mutation_p.I170V|LGALS8_uc009xgg.1_RNA|LGALS8_uc001hya.1_Missense_Mutation_p.I170V|LGALS8_uc001hyb.1_Missense_Mutation_p.I170V|LGALS8_uc001hyc.1_Intron	75	GBM-06-0879-TP	p.I170V	A	ACTGACAGAGATAAGTAGAGA	NM_201543	NP_963837	236704996	O00214	LEG8_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		7	889	+	G	G	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	Missense_Mutation	170						
LGALS8	0	broad.mit.edu	GRCh37	1	236711404	236711404	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-32-2494-01	TCGA-32-2494-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341872.6:c.897T>A	p.Ser299Arg	p.S299R	ENST00000341872	NM_201543.2	299	agT/agA	0			1			A	S/R	uc001hxz.1	protein_coding		CCDS1612.1			897/954									ovary(1)	1	c.(895-897)AGT>AGA			PROSITE_profiles:PS51304,hmmpanther:PTHR11346,hmmpanther:PTHR11346:SF22,Gene3D:2.60.120.200,Pfam_domain:PF00337,SMART_domains:SM00276,SMART_domains:SM00908,Superfamily_domains:SSF49899	galectin-8 isoform b				ENSP00000342139		11-Nov									COSM3747834	11-Nov	.		ENST00000341872	Transcript				cytoplasm|extracellular space	sugar binding	ENSG00000116977	g.chr1:236711404T>A	6569			MODERATE		0.44	neutral	getma.org/?cm=msa&ty=f&p=LEG8_HUMAN&rb=186&re=316&var=S299R	getma.org/pdb.php?prot=LEG8_HUMAN&from=186&to=316&var=S299R	getma.org/?cm=var&var=hg19,1,236711404,T,A&fts=all	S299R	--	--	1																																		LGALS8_uc001hxw.1_Missense_Mutation_p.S341R|LGALS8_uc001hxy.1_Missense_Mutation_p.S341R|LGALS8_uc009xgg.1_RNA|LGALS8_uc001hya.1_Missense_Mutation_p.S299R|LGALS8_uc001hyb.1_Missense_Mutation_p.S299R|LGALS8_uc001hyc.1_Missense_Mutation_p.S282R	1			benign(0.035)	p.S299R	NM_201543	NP_963837		tolerated(0.38)	1	LEG8_HUMAN	LGALS8	HGNC	O00214	LEG8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		E9PPL1_HUMAN,E9PJ77_HUMAN,B1ANM0_HUMAN		11	1278	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	UPI0000169BB8	299			Galectin 2.		SNV	LGALS8,missense_variant,p.Ser341Arg,ENST00000526589,;LGALS8,missense_variant,p.Ser299Arg,ENST00000366584,NM_201544.2;LGALS8,missense_variant,p.Ser341Arg,ENST00000450372,NM_006499.4;LGALS8,missense_variant,p.Ser299Arg,ENST00000341872,NM_201543.2;LGALS8,missense_variant,p.Ser272Arg,ENST00000323938,;LGALS8,missense_variant,p.Ser299Arg,ENST00000526634,;LGALS8,missense_variant,p.Ser341Arg,ENST00000352231,NM_201545.2;LGALS8,missense_variant,p.Ser341Arg,ENST00000527974,;LGALS8,missense_variant,p.Ser282Arg,ENST00000416919,;LGALS8,missense_variant,p.Ser282Arg,ENST00000525042,;HEATR1,downstream_gene_variant,,ENST00000366582,NM_018072.5;HEATR1,downstream_gene_variant,,ENST00000366581,;LGALS8,downstream_gene_variant,,ENST00000238181,;RP11-385F5.4,intron_variant,,ENST00000433131,;LGALS8,non_coding_transcript_exon_variant,,ENST00000489586,;LGALS8,non_coding_transcript_exon_variant,,ENST00000528259,;LGALS8,downstream_gene_variant,,ENST00000366583,;LGALS8,downstream_gene_variant,,ENST00000525789,;LGALS8,downstream_gene_variant,,ENST00000532640,;	uc001hxz.1	c.897T>A	1278/2437	2	2			c.897T>A						1	SNP	c.(895-897)AGT>AGA	32	32			ovary(1)	1	Broad	galectin-8 isoform b			236711404		0.408	ENSG00000116977	8590	g.chr1:236711404T>A		cytoplasm|extracellular space	sugar binding							-8.024724	KEEP	2	1	-1	28	42	2	1	-1	6.53541	28	42	0.045455	1	0	0	0	0	1	0	0	0	--	--		0	A			LGALS8_uc001hxw.1_Missense_Mutation_p.S341R|LGALS8_uc001hxy.1_Missense_Mutation_p.S341R|LGALS8_uc009xgg.1_RNA|LGALS8_uc001hya.1_Missense_Mutation_p.S299R|LGALS8_uc001hyb.1_Missense_Mutation_p.S299R|LGALS8_uc001hyc.1_Missense_Mutation_p.S282R	236	GBM-32-2494-TP	p.S299R	T	AGCTCAGCAGTATTGACACGC	NM_201543	NP_963837	236711404	O00214	LEG8_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		11	1278	+	A	A	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	Missense_Mutation	299			Galectin 2.			
LGALS9	0	broad.mit.edu	GRCh37	17	25974373	25974373	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs149003631		TCGA-12-1597-01	TCGA-12-1597-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395473.2:c.836G>A	p.Arg279His	p.R279H	ENST00000395473	NM_009587.2	279	cGc/cAc	0	A:0		1			A	R/H	uc002gzp.2	protein_coding	YES	CCDS11222.1			836/1068										0	c.(835-837)CGC>CAC			PROSITE_profiles:PS51304,hmmpanther:PTHR11346:SF91,hmmpanther:PTHR11346,Gene3D:2.60.120.200,Pfam_domain:PF00337,SMART_domains:SM00908,SMART_domains:SM00276,Superfamily_domains:SSF49899	galectin-9 isoform long			A:0.0002	ENSP00000378856		11-Oct	0.000132		0.000692	0.000116		7.50E-05		0.000121	rs149003631,COSM3402679	11-Oct	common_variant		ENST00000395473	Transcript			positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity	ENSG00000168961	g.chr17:25974373G>A	6570			MODERATE		3.945	high	getma.org/?cm=msa&ty=f&p=LEG9_HUMAN&rb=226&re=355&var=R279H	getma.org/pdb.php?prot=LEG9_HUMAN&from=226&to=355&var=R279H	getma.org/?cm=var&var=hg19,17,25974373,G,A&fts=all	R279H	--	--	1																																		LGALS9_uc002gzq.2_Missense_Mutation_p.R247H|LGALS9_uc002gzr.2_Missense_Mutation_p.R190H|LGALS9_uc010waa.1_Intron|LGALS9_uc002gzs.2_Intron	0,1	1		probably_damaging(0.977)	p.R279H	NM_009587	NP_033665		tolerated(0.1)	0,1	LEG9_HUMAN	LGALS9	HGNC	O00182	LEG9_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)	K7EPS0_HUMAN		10	954	+	Lung NSC(42;0.0103)		UPI000012E437	279			Galectin 2.		SNV	LGALS9,missense_variant,p.Arg279His,ENST00000395473,NM_009587.2;LGALS9,missense_variant,p.Arg247His,ENST00000302228,NM_002308.3;LGALS9,missense_variant,p.Arg235His,ENST00000310394,;LGALS9,missense_variant,p.Arg114His,ENST00000578944,;LGALS9,intron_variant,,ENST00000413914,;LGALS9,intron_variant,,ENST00000313648,;LGALS9,intron_variant,,ENST00000581710,;LGALS9,downstream_gene_variant,,ENST00000577392,;LGALS9,downstream_gene_variant,,ENST00000584661,;LGALS9,3_prime_UTR_variant,,ENST00000467111,;LGALS9,non_coding_transcript_exon_variant,,ENST00000486774,;LGALS9,non_coding_transcript_exon_variant,,ENST00000481514,;LGALS9,downstream_gene_variant,,ENST00000580779,;LGALS9,downstream_gene_variant,,ENST00000584386,;LGALS9,downstream_gene_variant,,ENST00000579930,;LGALS9,downstream_gene_variant,,ENST00000583671,;NOS2P1,downstream_gene_variant,,ENST00000580780,;	uc002gzp.2	c.836G>A	2304/3114	1	1			c.836G>A						17	SNP	c.(835-837)CGC>CAC	49	49				0	Broad	galectin-9 isoform long			25974373		0.587	ENSG00000168961	8591	g.chr17:25974373G>A	positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity	Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)			Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)			-3.915547	KEEP	2	1	-1	27	28	2	1	-1	6.479442	27	28	0.058824	1	0	0	0	0	1	0	0	0	--	--		0	A			LGALS9_uc002gzq.2_Missense_Mutation_p.R247H|LGALS9_uc002gzr.2_Missense_Mutation_p.R190H|LGALS9_uc010waa.1_Intron|LGALS9_uc002gzs.2_Intron	124	GBM-12-1597-TP	p.R279H	G	GCTGTGGTCCGCAACACCCAG	NM_009587	NP_033665	25974373	O00182	LEG9_HUMAN	0	BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)	10	954	+	A	A	Lung NSC(42;0.0103)		Missense_Mutation	279			Galectin 2.			
LGI2	0	broad.mit.edu	GRCh37	4	25019723	25019723	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-2629-01	TCGA-19-2629-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382114.4:c.543G>T	p.Trp181Cys	p.W181C	ENST00000382114	NM_018176.3	181	tgG/tgT	0			1			A	W/C	uc003grf.2	protein_coding	YES	CCDS3431.1			543/1638										0	c.(541-543)TGG>TGT			Superfamily_domains:SSF52058,SMART_domains:SM00082,Gene3D:3.80.10.10,hmmpanther:PTHR24367:SF21,hmmpanther:PTHR24367	leucine-rich repeat LGI family, member 2				ENSP00000371548		8-Jun									COSM2156361	8-Jun	.		ENST00000382114	Transcript				extracellular region		ENSG00000153012	g.chr4:25019723C>A	18710			MODERATE		3.225	medium	getma.org/?cm=msa&ty=f&p=LGI2_HUMAN&rb=167&re=217&var=W181C	NA	getma.org/?cm=var&var=hg19,4,25019723,C,A&fts=all	W181C	--	--	1																																			1	1		probably_damaging(0.997)	p.W181C	NM_018176	NP_060646		deleterious(0)	1	LGI2_HUMAN	LGI2	HGNC	Q8N0V4	LGI2_HUMAN					6	642	-		Breast(46;0.173)	UPI0000047256	181			LRRCT.		SNV	LGI2,missense_variant,p.Trp181Cys,ENST00000382114,NM_018176.3;LGI2,missense_variant,p.Trp172Cys,ENST00000512108,;	uc003grf.2	c.543G>T	729/6428	2	2			c.543G>T						4	SNP	c.(541-543)TGG>TGT	46	46				0	Broad	leucine-rich repeat LGI family, member 2			25019723		0.373	ENSG00000153012	8595	g.chr4:25019723C>A		extracellular region								397.439842	KEEP	73	57	0.438461538	54	42	73	57	0.438461538	398.512778	54	42	0.574661	1	0	0	0	0	1	0	0	0	--	--		0	A				166	GBM-19-2629-TP	p.W181C	C	TCATCTTCAACCACAGGTATA	NM_018176	NP_060646	25019723	Q8N0V4	LGI2_HUMAN	0			6	642	-	A	A		Breast(46;0.173)	Missense_Mutation	181			LRRCT.			
LGI2	0	broad.mit.edu	GRCh37	4	25014080	25014080	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01	TCGA-26-5132-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382114.4:c.697G>A	p.Val233Met	p.V233M	ENST00000382114	NM_018176.3	233	Gtg/Atg	0			1			T	V/M	uc003grf.2	protein_coding	YES	CCDS3431.1			697/1638										0	c.(697-699)GTG>ATG			Pfam_domain:PF03736,hmmpanther:PTHR24367:SF21,hmmpanther:PTHR24367,PROSITE_profiles:PS50912	leucine-rich repeat LGI family, member 2				ENSP00000371548		8-Jul									COSM2156945	8-Jul	.		ENST00000382114	Transcript				extracellular region		ENSG00000153012	g.chr4:25014080C>T	18710			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=LGI2_HUMAN&rb=218&re=261&var=V233M	NA	getma.org/?cm=var&var=hg19,4,25014080,C,T&fts=all	V233M	--	--	1																																			1	1		possibly_damaging(0.886)	p.V233M	NM_018176	NP_060646		deleterious(0)	1	LGI2_HUMAN	LGI2	HGNC	Q8N0V4	LGI2_HUMAN					7	796	-		Breast(46;0.173)	UPI0000047256	233			EAR 1.		SNV	LGI2,missense_variant,p.Val233Met,ENST00000382114,NM_018176.3;LGI2,intron_variant,,ENST00000512108,;	uc003grf.2	c.697G>A	883/6428	1	1			c.697G>A						4	SNP	c.(697-699)GTG>ATG	8	8				0	Broad	leucine-rich repeat LGI family, member 2			25014080		0.453	ENSG00000153012	8595	g.chr4:25014080C>T		extracellular region								231.253025	KEEP	35	44	-1	56	78	35	44	-1	233.686731	56	78	0.38191	1	0	0	0	0	1	0	0	0	--	--		0	T				181	GBM-26-5132-TP	p.V233M	C	AACGTATCCACTGAAACCGAC	NM_018176	NP_060646	25014080	Q8N0V4	LGI2_HUMAN	0			7	796	-	T	T		Breast(46;0.173)	Missense_Mutation	233			EAR 1.			
LGI2	55203		GRCh37	4	25032262	25032264	+	inframe_deletion	In_Frame_Del	DEL	CAG	CAG	-			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000382114.4:c.52_54del	p.Leu18del	p.L18del	ENST00000382114	NM_018176.3	18	CTG/-	0																																																																																																																																																																																																																																												
LGI3	0	broad.mit.edu	GRCh37	8	22006477	22006477	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-14-1823-01	TCGA-14-1823-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306317.2:c.843G>T	p.Val281=	p.V281=	ENST00000306317	NM_139278.2	281	gtG/gtT	0			1			A	V	uc003xav.2	protein_coding	YES	CCDS6025.1			843/1647									ovary(1)	1	c.(841-843)GTG>GTT			Superfamily_domains:0046203,Pfam_domain:PF03736,PROSITE_profiles:PS50912,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF10	leucine-rich repeat LGI family, member 3				ENSP00000302297		8-Aug									COSM3412912	8-Aug	.		ENST00000306317	Transcript			exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		ENSG00000168481	g.chr8:22006477C>A	18711			LOW								--	--	1																																		LGI3_uc010ltu.2_Silent_p.V257V	1	1			p.V281V	NM_139278	NP_644807			1	LGI3_HUMAN	LGI3	HGNC	Q8N145	LGI3_HUMAN		Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)			8	1132	-			UPI0000070742	281			EAR 2.		SNV	LGI3,synonymous_variant,p.=,ENST00000306317,NM_139278.2;LGI3,synonymous_variant,p.=,ENST00000424267,;LGI3,downstream_gene_variant,,ENST00000517694,;LGI3,non_coding_transcript_exon_variant,,ENST00000520124,;LGI3,downstream_gene_variant,,ENST00000518365,;	uc003xav.2	c.843G>T	1133/3272	2	2			c.843G>T						8	SNP	c.(841-843)GTG>GTT	25	25			ovary(1)	1	Broad	leucine-rich repeat LGI family, member 3			22006477		0.627	ENSG00000168481	8596	g.chr8:22006477C>A	exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome								23.092393	KEEP	5	5	0.5	6	9	5	5	0.5	23.562806	6	9	0.347826	1	0	0	0	0	0	0	1	0	--	--		0	A			LGI3_uc010ltu.2_Silent_p.V257V	147	GBM-14-1823-TP	p.V281V	C	GCTTGCAGTGCACTGCAGAGG	NM_139278	NP_644807	22006477	Q8N145	LGI3_HUMAN	0		Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)	8	1132	-	A	A			Silent	281			EAR 2.			
LGI3	0	broad.mit.edu	GRCh37	8	22005999	22005999	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2499-01	TCGA-28-2499-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306317.2:c.1321C>T	p.Arg441Cys	p.R441C	ENST00000306317	NM_139278.2	441	Cgc/Tgc	0			1			A	R/C	uc003xav.2	protein_coding	YES	CCDS6025.1			1321/1647									ovary(1)	1	c.(1321-1323)CGC>TGC			Superfamily_domains:0046203,Pfam_domain:PF03736,PROSITE_profiles:PS50912,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF10	leucine-rich repeat LGI family, member 3				ENSP00000302297		8-Aug	2.47E-05					1.53E-05		0.000122	rs763244062,COSM3412911	8-Aug	.		ENST00000306317	Transcript			exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		ENSG00000168481	g.chr8:22005999G>A	18711			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=LGI3_HUMAN&rb=409&re=453&var=R441C	NA	getma.org/?cm=var&var=hg19,8,22005999,G,A&fts=all	R441C	--	--	1																																		LGI3_uc010ltu.2_Missense_Mutation_p.R417C	0,1	1		probably_damaging(0.997)	p.R441C	NM_139278	NP_644807		tolerated(0.09)	0,1	LGI3_HUMAN	LGI3	HGNC	Q8N145	LGI3_HUMAN		Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)			8	1610	-			UPI0000070742	441			EAR 5.		SNV	LGI3,missense_variant,p.Arg441Cys,ENST00000306317,NM_139278.2;LGI3,missense_variant,p.Arg417Cys,ENST00000424267,;LGI3,downstream_gene_variant,,ENST00000517694,;LGI3,non_coding_transcript_exon_variant,,ENST00000520124,;LGI3,downstream_gene_variant,,ENST00000518365,;	uc003xav.2	c.1321C>T	1611/3272	2	2			c.1321C>T						8	SNP	c.(1321-1323)CGC>TGC	32	32			ovary(1)	1	Broad	leucine-rich repeat LGI family, member 3			22005999		0.657	ENSG00000168481	8596	g.chr8:22005999G>A	exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome								50.18972	KEEP	9	10	-1	15	20	9	10	-1	50.711934	15	20	0.380952	1	0	0	0	0	1	0	0	0	--	--		0	A			LGI3_uc010ltu.2_Missense_Mutation_p.R417C	208	GBM-28-2499-TP	p.R441C	G	CCAATGTAGCGGCTGAGGCAC	NM_139278	NP_644807	22005999	Q8N145	LGI3_HUMAN	0		Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)	8	1610	-	A	A			Missense_Mutation	441			EAR 5.			
LGR5	8549		GRCh37	12	71977624	71977624	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000266674.5:c.1834G>A	p.Val612Met	p.V612M	ENST00000266674	NM_001277226.1	612	Gtg/Atg	0																																																																																																																																																																																																																																												
LGR6	59352	broad.mit.edu	GRCh37	1	202287327	202287327	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367278.3:c.1896C>T	p.Tyr632=	p.Y632=	ENST00000367278	NM_001017403.1	632	taC/taT	0		T:0	1	T:0.0014		T	Y	uc001gxu.2	protein_coding	YES	CCDS30971.1			1896/2904									large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10	c.(1894-1896)TAC>TAT			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00373,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF12,Superfamily_domains:SSF81321	leucine-rich repeat-containing G protein-coupled		T:0		ENSP00000356247	T:0	18/18	8.24E-06			0.000119					rs540125583,COSM3400210,COSM3400211	18/18	.		ENST00000367278	Transcript		T:0.0002		integral to membrane|plasma membrane	protein-hormone receptor activity	ENSG00000133067	g.chr1:202287327C>T	19719			LOW								--	--	1																																		LGR6_uc001gxv.2_Silent_p.Y580Y|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Silent_p.Y493Y	0,1,1	1			p.Y632Y	NM_001017403	NP_001017403	T:0		0,1,1	LGR6_HUMAN	LGR6	HGNC	Q9HBX8	LGR6_HUMAN					18	1896	+			UPI0000161221	632			Extracellular (Potential).		SNV	LGR6,synonymous_variant,p.=,ENST00000367278,NM_001017403.1;LGR6,synonymous_variant,p.=,ENST00000255432,NM_021636.2;LGR6,synonymous_variant,p.=,ENST00000439764,NM_001017404.1;LGR6,3_prime_UTR_variant,,ENST00000487787,;	uc001gxu.2	c.1896C>T	1985/3567	2	2			c.1896C>T						1	SNP	c.(1894-1896)TAC>TAT	33	33			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10	Broad	leucine-rich repeat-containing G protein-coupled			202287327		0.622	ENSG00000133067	8601	g.chr1:202287327C>T		integral to membrane|plasma membrane	protein-hormone receptor activity							8.330037	KEEP	5	3	-1	14	33	5	3	-1	14.194232	14	33	0.133333	1	0	0	0	0	0	0	1	0	--	--		0	T			LGR6_uc001gxv.2_Silent_p.Y580Y|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Silent_p.Y493Y	46	GBM-06-0209-TP	p.Y632Y	C	TCTCTGAGTACGGAGCCCGCT	NM_001017403	NP_001017403	202287327	Q9HBX8	LGR6_HUMAN	0			18	1896	+	T	T			Silent	632			Extracellular (Potential).			
LGR6	0	broad.mit.edu	GRCh37	1	202249926	202249926	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01	TCGA-16-0846-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367278.3:c.662G>A	p.Arg221His	p.R221H	ENST00000367278	NM_001017403.1	221	cGc/cAc	0	A:0.0002		1			A	R/H	uc001gxu.2	protein_coding	YES	CCDS30971.1			662/2904									large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10	c.(661-663)CGC>CAC			Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF12,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52058	leucine-rich repeat-containing G protein-coupled			A:0	ENSP00000356247		18-Jun	1.65E-05	9.61E-05				1.50E-05			rs372287043,COSM902307,COSM3400209	18-Jun	.		ENST00000367278	Transcript				integral to membrane|plasma membrane	protein-hormone receptor activity	ENSG00000133067	g.chr1:202249926G>A	19719			MODERATE		0.935	low	getma.org/?cm=msa&ty=f&p=LGR6_HUMAN&rb=210&re=269&var=R221H	getma.org/pdb.php?prot=LGR6_HUMAN&from=210&to=269&var=R221H	getma.org/?cm=var&var=hg19,1,202249926,G,A&fts=all	R221H	--	--	1																																		LGR6_uc001gxv.2_Missense_Mutation_p.R169H|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Intron|LGR6_uc009xac.1_RNA	0,1,1	1		benign(0.013)	p.R221H	NM_001017403	NP_001017403		tolerated(0.18)	0,1,1	LGR6_HUMAN	LGR6	HGNC	Q9HBX8	LGR6_HUMAN					6	662	+			UPI0000161221	221			LRR 6.|Extracellular (Potential).		SNV	LGR6,missense_variant,p.Arg221His,ENST00000367278,NM_001017403.1;LGR6,missense_variant,p.Arg169His,ENST00000255432,NM_021636.2;LGR6,intron_variant,,ENST00000439764,NM_001017404.1;LGR6,intron_variant,,ENST00000423542,;LGR6,non_coding_transcript_exon_variant,,ENST00000308543,;LGR6,non_coding_transcript_exon_variant,,ENST00000506931,;LGR6,missense_variant,p.Arg169His,ENST00000487787,;	uc001gxu.2	c.662G>A	751/3567	1	1			c.662G>A						1	SNP	c.(661-663)CGC>CAC	63	63			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10	Broad	leucine-rich repeat-containing G protein-coupled			202249926		0.567	ENSG00000133067	8601	g.chr1:202249926G>A		integral to membrane|plasma membrane	protein-hormone receptor activity							-28.125691	KEEP	2	3	-1	97	68	2	3	-1	6.994825	97	68	0.027972	1	0	0	0	0	1	0	0	0	--	--		0	A			LGR6_uc001gxv.2_Missense_Mutation_p.R169H|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Intron|LGR6_uc009xac.1_RNA	155	GBM-16-0846-TP	p.R221H	G	CATAACAACCGCATCCAGCAT	NM_001017403	NP_001017403	202249926	Q9HBX8	LGR6_HUMAN	0			6	662	+	A	A			Missense_Mutation	221			LRR 6.|Extracellular (Potential).			
LGR6	0	broad.mit.edu	GRCh37	1	202287759	202287759	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-19-2619-01	TCGA-19-2619-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367278.3:c.2328C>A	p.Ala776=	p.A776=	ENST00000367278	NM_001017403.1	776	gcC/gcA	0			1			A	A	uc001gxu.2	protein_coding	YES	CCDS30971.1			2328/2904									large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10	c.(2326-2328)GCC>GCA			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00373,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF12,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	leucine-rich repeat-containing G protein-coupled				ENSP00000356247		18/18									COSM2156131,COSM3400212	18/18	.		ENST00000367278	Transcript				integral to membrane|plasma membrane	protein-hormone receptor activity	ENSG00000133067	g.chr1:202287759C>A	19719			LOW								--	--	1																																		LGR6_uc001gxv.2_Silent_p.A724A|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Silent_p.A637A	1,1	1			p.A776A	NM_001017403	NP_001017403			1,1	LGR6_HUMAN	LGR6	HGNC	Q9HBX8	LGR6_HUMAN					18	2328	+			UPI0000161221	776			Helical; Name=6; (Potential).		SNV	LGR6,synonymous_variant,p.=,ENST00000367278,NM_001017403.1;LGR6,synonymous_variant,p.=,ENST00000255432,NM_021636.2;LGR6,synonymous_variant,p.=,ENST00000439764,NM_001017404.1;LGR6,3_prime_UTR_variant,,ENST00000487787,;	uc001gxu.2	c.2328C>A	2417/3567	1	1			c.2328C>A						1	SNP	c.(2326-2328)GCC>GCA	63	63			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10	Broad	leucine-rich repeat-containing G protein-coupled			202287759		0.637	ENSG00000133067	8601	g.chr1:202287759C>A		integral to membrane|plasma membrane	protein-hormone receptor activity							158.654629	KEEP	26	24	0.48	6	7	26	24	0.48	163.760762	6	7	0.8	1	0	0	0	0	0	0	1	0	--	--		0	A			LGR6_uc001gxv.2_Silent_p.A724A|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Silent_p.A637A	161	GBM-19-2619-TP	p.A776A	C	GGCACGTGGCCTGGCTCATCT	NM_001017403	NP_001017403	202287759	Q9HBX8	LGR6_HUMAN	0			18	2328	+	A	A			Silent	776			Helical; Name=6; (Potential).			
LGSN	51557	broad.mit.edu	GRCh37	6	64004847	64004847	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-02-2485-01	TCGA-02-2485-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370657.4:c.134T>G	p.Val45Gly	p.V45G	ENST00000370657		45	gTg/gGg	0			1			C	V/G	uc003peh.2	protein_coding	YES	CCDS4964.1			134/1530									skin(2)	2	c.(133-135)GTG>GGG				lengsin, lens protein with glutamine synthetase	L-Glutamic Acid(DB00142)			ENSP00000359691		4-Feb									COSM3411240	4-Feb	.		ENST00000370657	Transcript			glutamine biosynthetic process		glutamate-ammonia ligase activity	ENSG00000146166	g.chr6:64004847A>C	21016			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=LGSN_HUMAN&rb=1&re=83&var=V45G	NA	getma.org/?cm=var&var=hg19,6,64004847,A,C&fts=all	V45G	--	--	1																																		LGSN_uc003pei.2_Missense_Mutation_p.V45G|LGSN_uc003pej.1_Missense_Mutation_p.V45G	1	1		benign(0.002)	p.V45G	NM_016571	NP_057655		tolerated_low_confidence(0.37)	1	LGSN_HUMAN	LGSN	HGNC	Q5TDP6	LGSN_HUMAN					2	168	-			UPI000013DA35	45					SNV	LGSN,missense_variant,p.Val45Gly,ENST00000370658,NM_016571.2,NM_001143940.1;LGSN,missense_variant,p.Val45Gly,ENST00000370657,;LGSN,missense_variant,p.Val45Gly,ENST00000485906,;	uc003peh.2	c.134T>G	168/1949	3	3			c.134T>G						6	SNP	c.(133-135)GTG>GGG	50	50			skin(2)	2	Broad	lengsin, lens protein with glutamine synthetase		L-Glutamic Acid(DB00142)	64004847		0.393	ENSG00000146166	8602	g.chr6:64004847A>C	glutamine biosynthetic process		glutamate-ammonia ligase activity							72.113268	KEEP	16	18	-1	78	81	16	18	-1	90.183193	78	81	0.173184	1	0	0	0	0	1	0	0	0	--	--		0	C			LGSN_uc003pei.2_Missense_Mutation_p.V45G|LGSN_uc003pej.1_Missense_Mutation_p.V45G	7	GBM-02-2485-TP	p.V45G	A	CGTTTCTCCCACTTCAGTTGA	NM_016571	NP_057655	64004847	Q5TDP6	LGSN_HUMAN	0			2	168	-	C	C			Missense_Mutation	45						
LGSN	51557	broad.mit.edu	GRCh37	6	63990671	63990671	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01	TCGA-06-0126-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370657.4:c.785G>A	p.Arg262Lys	p.R262K	ENST00000370657		262	aGg/aAg	0			1			T	R/K	uc003peh.2	protein_coding	YES	CCDS4964.1			785/1530									skin(2)	2	c.(784-786)AGG>AAG			Superfamily_domains:SSF55931,Gene3D:3.30.590.10,Pfam_domain:PF00120,hmmpanther:PTHR20852,hmmpanther:PTHR20852:SF7	lengsin, lens protein with glutamine synthetase	L-Glutamic Acid(DB00142)			ENSP00000359691		4-Apr									COSM2149431	4-Apr	.		ENST00000370657	Transcript			glutamine biosynthetic process		glutamate-ammonia ligase activity	ENSG00000146166	g.chr6:63990671C>T	21016			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=LGSN_HUMAN&rb=181&re=427&var=R262K	getma.org/pdb.php?prot=LGSN_HUMAN&from=181&to=427&var=R262K	getma.org/?cm=var&var=hg19,6,63990671,C,T&fts=all	R262K	--	--	1																																		LGSN_uc003pei.2_Intron	1	1		possibly_damaging(0.565)	p.R262K	NM_016571	NP_057655		tolerated(0.54)	1	LGSN_HUMAN	LGSN	HGNC	Q5TDP6	LGSN_HUMAN					4	819	-			UPI000013DA35	262					SNV	LGSN,missense_variant,p.Arg262Lys,ENST00000370657,;LGSN,intron_variant,,ENST00000370658,NM_016571.2,NM_001143940.1;LGSN,intron_variant,,ENST00000485906,;	uc003peh.2	c.785G>A	819/1949	2	2			c.785G>A						6	SNP	c.(784-786)AGG>AAG	21	21			skin(2)	2	Broad	lengsin, lens protein with glutamine synthetase		L-Glutamic Acid(DB00142)	63990671		0.433	ENSG00000146166	8602	g.chr6:63990671C>T	glutamine biosynthetic process		glutamate-ammonia ligase activity							86.405031	KEEP	10	19	-1	24	27	10	19	-1	87.807352	24	27	0.355263	1	0	0	0	0	1	0	0	0	--	--		0	T			LGSN_uc003pei.2_Intron	13	GBM-06-0126-TP	p.R262K	C	CTGACCAGGCCTGGTAGAGGA	NM_016571	NP_057655	63990671	Q5TDP6	LGSN_HUMAN	0			4	819	-	T	T			Missense_Mutation	262						
LGSN	51557	broad.mit.edu	GRCh37	6	63990385	63990385	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5413-01	TCGA-06-5413-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370657.4:c.1071C>T	p.Cys357=	p.C357=	ENST00000370657		357	tgC/tgT	0			1			A	C	uc003peh.2	protein_coding	YES	CCDS4964.1			1071/1530									skin(2)	2	c.(1069-1071)TGC>TGT			Superfamily_domains:SSF55931,Gene3D:3.30.590.10,Pfam_domain:PF00120,hmmpanther:PTHR20852,hmmpanther:PTHR20852:SF7	lengsin, lens protein with glutamine synthetase	L-Glutamic Acid(DB00142)			ENSP00000359691		4-Apr									COSM2153177	4-Apr	.		ENST00000370657	Transcript			glutamine biosynthetic process		glutamate-ammonia ligase activity	ENSG00000146166	g.chr6:63990385G>A	21016			LOW								--	--	1																																		LGSN_uc003pei.2_3'UTR	1	1			p.C357C	NM_016571	NP_057655			1	LGSN_HUMAN	LGSN	HGNC	Q5TDP6	LGSN_HUMAN					4	1105	-			UPI000013DA35	357					SNV	LGSN,synonymous_variant,p.=,ENST00000370657,;LGSN,3_prime_UTR_variant,,ENST00000370658,NM_016571.2,NM_001143940.1;LGSN,intron_variant,,ENST00000485906,;	uc003peh.2	c.1071C>T	1105/1949	2	2			c.1071C>T						6	SNP	c.(1069-1071)TGC>TGT	45	45			skin(2)	2	Broad	lengsin, lens protein with glutamine synthetase		L-Glutamic Acid(DB00142)	63990385		0.498	ENSG00000146166	8602	g.chr6:63990385G>A	glutamine biosynthetic process		glutamate-ammonia ligase activity							133.198254	KEEP	23	22	-1	19	18	23	22	-1	133.305485	19	18	0.538462	1	0	0	0	0	0	0	1	0	--	--		0	A			LGSN_uc003pei.2_3'UTR	96	GBM-06-5413-TP	p.C357C	G	GCGCCATCAGGCAGCTGAGCG	NM_016571	NP_057655	63990385	Q5TDP6	LGSN_HUMAN	0			4	1105	-	A	A			Silent	357						
LGSN	0	broad.mit.edu	GRCh37	6	63991054	63991054	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-19-2620-01	TCGA-19-2620-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370657.4:c.402A>T	p.Glu134Asp	p.E134D	ENST00000370657		134	gaA/gaT	0			1			A	E/D	uc003peh.2	protein_coding	YES	CCDS4964.1			402/1530									skin(2)	2	c.(400-402)GAA>GAT			Superfamily_domains:SSF54368,Pfam_domain:PF03951,Gene3D:2bvcA01,hmmpanther:PTHR20852,hmmpanther:PTHR20852:SF7	lengsin, lens protein with glutamine synthetase	L-Glutamic Acid(DB00142)			ENSP00000359691		4-Apr									COSM3411239	4-Apr	.		ENST00000370657	Transcript			glutamine biosynthetic process		glutamate-ammonia ligase activity	ENSG00000146166	g.chr6:63991054T>A	21016			MODERATE		1.575	low	getma.org/?cm=msa&ty=f&p=LGSN_HUMAN&rb=84&re=175&var=E134D	getma.org/pdb.php?prot=LGSN_HUMAN&from=84&to=175&var=E134D	getma.org/?cm=var&var=hg19,6,63991054,T,A&fts=all	E134D	--	--	1																																		LGSN_uc003pei.2_Missense_Mutation_p.E134D	1	1		benign(0.225)	p.E134D	NM_016571	NP_057655		tolerated(0.13)	1	LGSN_HUMAN	LGSN	HGNC	Q5TDP6	LGSN_HUMAN					4	436	-			UPI000013DA35	134					SNV	LGSN,missense_variant,p.Glu134Asp,ENST00000370658,NM_016571.2,NM_001143940.1;LGSN,missense_variant,p.Glu134Asp,ENST00000370657,;LGSN,missense_variant,p.Glu134Asp,ENST00000485906,;	uc003peh.2	c.402A>T	436/1949	1	1			c.402A>T						6	SNP	c.(400-402)GAA>GAT	56	56			skin(2)	2	Broad	lengsin, lens protein with glutamine synthetase		L-Glutamic Acid(DB00142)	63991054		0.393	ENSG00000146166	8602	g.chr6:63991054T>A	glutamine biosynthetic process		glutamate-ammonia ligase activity							111.599102	KEEP	27	18	-1	65	34	27	18	-1	115.346672	65	34	0.320611	1	0	0	0	0	1	0	0	0	--	--		0	A			LGSN_uc003pei.2_Missense_Mutation_p.E134D	162	GBM-19-2620-TP	p.E134D	T	TGTTATTCATTTCATTGTCCT	NM_016571	NP_057655	63991054	Q5TDP6	LGSN_HUMAN	0			4	436	-	A	A			Missense_Mutation	134						
LGSN	0	broad.mit.edu	GRCh37	6	63991036	63991036	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-19-2623-01	TCGA-19-2623-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370657.4:c.420C>A	p.Ala140=	p.A140=	ENST00000370657		140	gcC/gcA	0			1			T	A	uc003peh.2	protein_coding	YES	CCDS4964.1			420/1530									skin(2)	2	c.(418-420)GCC>GCA			Superfamily_domains:SSF54368,Pfam_domain:PF03951,Gene3D:2bvcA01,hmmpanther:PTHR20852,hmmpanther:PTHR20852:SF7	lengsin, lens protein with glutamine synthetase	L-Glutamic Acid(DB00142)			ENSP00000359691		4-Apr									COSM3411238	4-Apr	.		ENST00000370657	Transcript			glutamine biosynthetic process		glutamate-ammonia ligase activity	ENSG00000146166	g.chr6:63991036G>T	21016			LOW								--	--	1																																		LGSN_uc003pei.2_Silent_p.A140A	1	1			p.A140A	NM_016571	NP_057655			1	LGSN_HUMAN	LGSN	HGNC	Q5TDP6	LGSN_HUMAN					4	454	-			UPI000013DA35	140					SNV	LGSN,synonymous_variant,p.=,ENST00000370658,NM_016571.2,NM_001143940.1;LGSN,synonymous_variant,p.=,ENST00000370657,;LGSN,synonymous_variant,p.=,ENST00000485906,;	uc003peh.2	c.420C>A	454/1949	2	2			c.420C>A						6	SNP	c.(418-420)GCC>GCA	48	48			skin(2)	2	Broad	lengsin, lens protein with glutamine synthetase		L-Glutamic Acid(DB00142)	63991036		0.408	ENSG00000146166	8602	g.chr6:63991036G>T	glutamine biosynthetic process		glutamate-ammonia ligase activity							-37.787908	KEEP	1	4	0.2	98	101	1	4	0.2	9.068003	98	101	0.026455	1	0	0	0	0	0	0	1	0	--	--		0	T			LGSN_uc003pei.2_Silent_p.A140A	163	GBM-19-2623-TP	p.A140A	G	TAAAACATGTGGCTCTTATGT	NM_016571	NP_057655	63991036	Q5TDP6	LGSN_HUMAN	0			4	454	-	T	T			Silent	140						
LGSN	0	broad.mit.edu	GRCh37	6	63990360	63990360	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370657.4:c.1096C>T	p.Arg366Ter	p.R366*	ENST00000370657		366	Cga/Tga	0			1			A	R/*	uc003peh.2	protein_coding	YES	CCDS4964.1			1096/1530									skin(2)	2	c.(1096-1098)CGA>TGA			Superfamily_domains:SSF55931,Gene3D:3.30.590.10,Pfam_domain:PF00120,hmmpanther:PTHR20852,hmmpanther:PTHR20852:SF7	lengsin, lens protein with glutamine synthetase	L-Glutamic Acid(DB00142)			ENSP00000359691		4-Apr									COSM3160168	4-Apr	.		ENST00000370657	Transcript			glutamine biosynthetic process		glutamate-ammonia ligase activity	ENSG00000146166	g.chr6:63990360G>A	21016			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,6,63990360,G,A&fts=all	R366*	--	--	1																																		LGSN_uc003pei.2_3'UTR	1	1			p.R366*	NM_016571	NP_057655			1	LGSN_HUMAN	LGSN	HGNC	Q5TDP6	LGSN_HUMAN					4	1130	-			UPI000013DA35	366					SNV	LGSN,stop_gained,p.Arg366Ter,ENST00000370657,;LGSN,3_prime_UTR_variant,,ENST00000370658,NM_016571.2,NM_001143940.1;LGSN,intron_variant,,ENST00000485906,;	uc003peh.2	c.1096C>T	1130/1949	5	1			c.1096C>T						6	SNP	c.(1096-1098)CGA>TGA	59	59			skin(2)	2	Broad	lengsin, lens protein with glutamine synthetase		L-Glutamic Acid(DB00142)	63990360		0.478	ENSG00000146166	8602	g.chr6:63990360G>A	glutamine biosynthetic process		glutamate-ammonia ligase activity							403.282015	KEEP	70	60	-1	97	79	70	60	-1	404.501181	97	79	0.43007	1	0	0	0	0	0	1	0	0	--	--		0	A			LGSN_uc003pei.2_3'UTR	197	GBM-27-1838-TP	p.R366*	G	TAACGCTTTCGGCAGCTAACA	NM_016571	NP_057655	63990360	Q5TDP6	LGSN_HUMAN	0			4	1130	-	A	A			Nonsense_Mutation	366						
LHCGR	3973	broad.mit.edu	GRCh37	2	48915170	48915170	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01	TCGA-06-0155-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294954.7:c.1766C>T	p.Ala589Val	p.A589V	ENST00000294954	NM_000233.3	589	gCc/gTc	0			1			A	A/V	uc002rwu.3	protein_coding	YES	CCDS1842.1			1766/2100									ovary(3)|lung(2)|breast(2)|skin(1)	8	c.(1765-1767)GCC>GTC			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24372,hmmpanther:PTHR24372:SF1,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)			ENSP00000294954		11-Nov									COSM3407884	11-Nov	.	Familial_Male-Limited_Precocious_Puberty	ENST00000294954	Transcript	1		male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	ENSG00000138039	g.chr2:48915170G>A	6585			MODERATE		2.905	medium	getma.org/?cm=msa&ty=f&p=LSHR_HUMAN&rb=376&re=623&var=A589V	getma.org/pdb.php?prot=LSHR_HUMAN&from=376&to=623&var=A589V	getma.org/?cm=var&var=hg19,2,48915170,G,A&fts=all	A589V	--	--	1																																		GTF2A1L_uc002rwt.2_Intron	1	1		probably_damaging(0.992)	p.A589V	NM_000233	NP_000224		deleterious(0)	1	LSHR_HUMAN	LHCGR	HGNC	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Q53S49_HUMAN,Q4ZFZ4_HUMAN		11	1836	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	UPI000013E1E1	589			Helical; Name=6; (Potential).		SNV	LHCGR,missense_variant,p.Ala589Val,ENST00000294954,NM_000233.3;LHCGR,missense_variant,p.Ala527Val,ENST00000344775,;LHCGR,missense_variant,p.Ala562Val,ENST00000405626,;LHCGR,3_prime_UTR_variant,,ENST00000403273,;LHCGR,3_prime_UTR_variant,,ENST00000401907,;STON1-GTF2A1L,intron_variant,,ENST00000402114,NM_001198593.1;GTF2A1L,intron_variant,,ENST00000508440,;	uc002rwu.3	c.1766C>T	1788/3044	1	1			c.1766C>T						2	SNP	c.(1765-1767)GCC>GTC	61	61			ovary(3)|lung(2)|breast(2)|skin(1)	8	Broad	luteinizing hormone/choriogonadotropin receptor		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	48915170	Familial_Male-Limited_Precocious_Puberty	0.383	ENSG00000138039	8605	g.chr2:48915170G>A	male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity							-37.253588	KEEP	0	4	-1	72	111	0	4	-1	6.849316	72	111	0.022989	1	0	0	0	0	1	0	0	0	--	--		0	A			GTF2A1L_uc002rwt.2_Intron	27	GBM-06-0155-TP	p.A589V	G	AGCTGAGATGGCAAAAAAAGA	NM_000233	NP_000224	48915170	P22888	LSHR_HUMAN	0	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		11	1836	-	A	A		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Missense_Mutation	589			Helical; Name=6; (Potential).			
LHCGR	0	broad.mit.edu	GRCh37	2	48960045	48960045	+	intron_variant	Intron	SNP	G	G	C			TCGA-19-4068-01	TCGA-19-4068-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294954.7:c.162-1608C>G		*54*	ENST00000294954	NM_000233.3			0	C:0		1			C		uc002rwt.2	protein_coding	YES	CCDS1842.1			-/2100										0	c.(1342-1344)AGG>ACG				general transcription factor IIA, 1-like isoform			C:0.0001	ENSP00000294954			8.28E-06					1.50E-05			rs374481158,COSM3407887,COSM3407886		.		ENST00000294954	Transcript	1		regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	transcription factor TFIIA complex	DNA binding|transcription coactivator activity	ENSG00000138039	g.chr2:48960045G>C	6585			MODIFIER	10-Jan							--	--	1																																		LHCGR_uc002rwu.3_Intron|LHCGR_uc002rwv.2_Intron	0,1,1	1			p.R448T	NM_172196	NP_751946			0,1,1	LSHR_HUMAN	LHCGR	HGNC	Q9UNN4	TF2AY_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Q53S49_HUMAN,Q4ZFZ4_HUMAN		9	1409	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	UPI000013E1E1	Error:Variant_position_missing_in_Q9UNN4_after_alignment					SNV	GTF2A1L,missense_variant,p.Arg97Thr,ENST00000508440,;STON1-GTF2A1L,intron_variant,,ENST00000402114,NM_001198593.1;LHCGR,intron_variant,,ENST00000294954,NM_000233.3;LHCGR,intron_variant,,ENST00000344775,;LHCGR,intron_variant,,ENST00000428232,;LHCGR,intron_variant,,ENST00000405626,;LHCGR,intron_variant,,ENST00000403273,;LHCGR,intron_variant,,ENST00000401907,;LHCGR,intron_variant,,ENST00000602369,;	uc002rwt.2	c.1343G>C	-/3044	3	3			c.1343G>C						2	SNP	c.(1342-1344)AGG>ACG	13	13				0	Broad	general transcription factor IIA, 1-like isoform			48960045		0.249	ENSG00000138039	6729	g.chr2:48960045G>C	regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	transcription factor TFIIA complex	DNA binding|transcription coactivator activity							-64.901411	KEEP	3	6	-1	178	196	3	6	-1	11.129653	178	196	0.017301	1	0	0	0	0	1	0	0	0	--	--		0	C			LHCGR_uc002rwu.3_Intron|LHCGR_uc002rwv.2_Intron	168	GBM-19-4068-TP	p.R448T	G	TTCCCAAGAAGGACATCGTTT	NM_172196	NP_751946	48960045	Q9UNN4	TF2AY_HUMAN	0	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		9	1409	+	C	C		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Missense_Mutation	Error:Variant_position_missing_in_Q9UNN4_after_alignment						
LHCGR	0	broad.mit.edu	GRCh37	2	48958384	48958384	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-27-1834-01	TCGA-27-1834-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294954.7:c.215T>A	p.Leu72His	p.L72H	ENST00000294954	NM_000233.3	72	cTt/cAt	0			1			T	L/H	uc002rwu.3	protein_coding	YES	CCDS1842.1			215/2100									ovary(3)|lung(2)|breast(2)|skin(1)	8	c.(214-216)CTT>CAT			Gene3D:3.80.10.10,Pfam_domain:PF13306,hmmpanther:PTHR24372,hmmpanther:PTHR24372:SF1,Superfamily_domains:SSF52058	luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)			ENSP00000294954		11-Feb									COSM3407885	11-Feb	.	Familial_Male-Limited_Precocious_Puberty	ENST00000294954	Transcript	1		male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	ENSG00000138039	g.chr2:48958384A>T	6585			MODERATE		4.065	high	getma.org/?cm=msa&ty=f&p=LSHR_HUMAN&rb=49&re=153&var=L72H	getma.org/pdb.php?prot=LSHR_HUMAN&from=49&to=153&var=L72H	getma.org/?cm=var&var=hg19,2,48958384,A,T&fts=all	L72H	--	--	1																																		GTF2A1L_uc002rwt.2_Intron|LHCGR_uc002rwv.2_RNA	1	1		probably_damaging(0.989)	p.L72H	NM_000233	NP_000224		deleterious(0)	1	LSHR_HUMAN	LHCGR	HGNC	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Q53S49_HUMAN,Q4ZFZ4_HUMAN		2	285	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	UPI000013E1E1	72			Extracellular (Potential).		SNV	LHCGR,missense_variant,p.Leu72His,ENST00000294954,NM_000233.3;LHCGR,missense_variant,p.Leu72His,ENST00000344775,;LHCGR,missense_variant,p.Leu38His,ENST00000428232,;LHCGR,missense_variant,p.Leu72His,ENST00000405626,;LHCGR,missense_variant,p.Leu72His,ENST00000403273,;LHCGR,missense_variant,p.Leu72His,ENST00000401907,;STON1-GTF2A1L,intron_variant,,ENST00000402114,NM_001198593.1;GTF2A1L,intron_variant,,ENST00000508440,;LHCGR,missense_variant,p.Leu72His,ENST00000602369,;	uc002rwu.3	c.215T>A	237/3044	2	2			c.215T>A						2	SNP	c.(214-216)CTT>CAT	34	34			ovary(3)|lung(2)|breast(2)|skin(1)	8	Broad	luteinizing hormone/choriogonadotropin receptor		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	48958384	Familial_Male-Limited_Precocious_Puberty	0.338	ENSG00000138039	8605	g.chr2:48958384A>T	male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity							61.776773	KEEP	16	20	-1	75	78	16	20	-1	76.206342	75	78	0.185897	1	0	0	0	0	1	0	0	0	--	--		0	T			GTF2A1L_uc002rwt.2_Intron|LHCGR_uc002rwv.2_RNA	193	GBM-27-1834-TP	p.L72H	A	GACCTCATTAAGTCCTCTGAA	NM_000233	NP_000224	48958384	P22888	LSHR_HUMAN	0	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		2	285	-	T	T		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Missense_Mutation	72			Extracellular (Potential).			
LHFP	0	broad.mit.edu	GRCh37	13	40175282	40175282	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0882-01	TCGA-06-0882-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379589.3:c.72C>T	p.Cys24=	p.C24=	ENST00000379589	NM_005780.2	24	tgC/tgT	0			1			A	C	uc001uxf.2	protein_coding	YES	CCDS9369.1			72/603	T		HMGA2		lipoma		HMGA2/LHFP(2)		soft_tissue(2)|lung(1)|breast(1)	4	c.(70-72)TGC>TGT			Transmembrane_helices:TMhelix,hmmpanther:PTHR12489:SF12,hmmpanther:PTHR12489,Pfam_domain:PF10242	lipoma HMGIC fusion partner precursor				ENSP00000368908		4-Feb	8.24E-06							6.10E-05	rs774101101,COSM2152343	4-Feb	.		ENST00000379589	Transcript				integral to membrane	DNA binding	ENSG00000183722	g.chr13:40175282G>A	6586			LOW								--	--	1																																			0,1	1			p.C24C	NM_005780	NP_005771			0,1	LHFP_HUMAN	LHFP	HGNC	Q9Y693	LHFP_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)			2	583	-		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)	UPI000006D140	24					SNV	LHFP,synonymous_variant,p.=,ENST00000379589,NM_005780.2;LHFP,downstream_gene_variant,,ENST00000495922,;	uc001uxf.2	c.72C>T	535/2110	2	2			c.72C>T	T		HMGA2		lipoma	13	SNP	c.(70-72)TGC>TGT	45	45	HMGA2/LHFP(2)		soft_tissue(2)|lung(1)|breast(1)	4	Broad	lipoma HMGIC fusion partner precursor			40175282		0.537	ENSG00000183722	8606	g.chr13:40175282G>A		integral to membrane	DNA binding			71			71	127.949093	KEEP	25	34	-1	79	67	25	34	-1	137.340093	79	67	0.271357	1	0	0	0	0	0	0	1	0	--	--		0	A				77	GBM-06-0882-TP	p.C24C	G	AGAACCCCACGCAGGAGGTGG	NM_005780	NP_005771	40175282	Q9Y693	LHFP_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)	2	583	-	A	A		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)	Silent	24						
LHFPL1	0	broad.mit.edu	GRCh37	X	111914414	111914414	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01	TCGA-19-2631-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371968.3:c.205C>T	p.Arg69Cys	p.R69C	ENST00000371968	NM_178175.3	69	Cgc/Tgc	0			1			A	R/C	uc004epq.2	protein_coding	YES	CCDS14562.1			205/663										0	c.(205-207)CGC>TGC			hmmpanther:PTHR12489:SF15,hmmpanther:PTHR12489,Pfam_domain:PF10242	lipoma HMGIC fusion partner-like 1 precursor				ENSP00000361036		4-Feb	3.29E-05					4.17E-05			rs767818059,COSM2156424	4-Feb	.		ENST00000371968	Transcript				integral to membrane		ENSG00000182508	g.chrX:111914414G>A	6587			MODERATE		2.65	medium	getma.org/?cm=msa&ty=f&p=LHPL1_HUMAN&rb=8&re=192&var=R69C	NA	getma.org/?cm=var&var=hg19,X,111914414,G,A&fts=all	R69C	--	--	1																																		LHFPL1_uc004epp.2_Missense_Mutation_p.R92C|LHFPL1_uc010nqa.2_Intron|LHFPL1_uc010nqb.2_Missense_Mutation_p.R69C	0,1	1		probably_damaging(0.998)	p.R69C	NM_178175	NP_835469		deleterious(0)	0,1	LHPL1_HUMAN	LHFPL1	HGNC	Q86WI0	LHPL1_HUMAN					2	538	-			UPI00000622AD	69					SNV	LHFPL1,missense_variant,p.Arg69Cys,ENST00000371968,NM_178175.3;LHFPL1,missense_variant,p.Arg69Cys,ENST00000536453,;LHFPL1,intron_variant,,ENST00000478229,;	uc004epq.2	c.205C>T	445/1675	1	1			c.205C>T						23	SNP	c.(205-207)CGC>TGC	58	58				0	Broad	lipoma HMGIC fusion partner-like 1 precursor			111914414		0.592	ENSG00000182508	8607	g.chrX:111914414G>A		integral to membrane								353.64673	KEEP	64	75	-1	140	149	64	75	-1	362.952082	140	149	0.331536	1	0	0	0	0	1	0	0	0	--	--		0	A			LHFPL1_uc004epp.2_Missense_Mutation_p.R92C|LHFPL1_uc010nqa.2_Intron|LHFPL1_uc010nqb.2_Missense_Mutation_p.R69C	167	GBM-19-2631-TP	p.R69C	G	CTGGCATAGCGCCCACATTCT	NM_178175	NP_835469	111914414	Q86WI0	LHPL1_HUMAN	0			2	538	-	A	A			Missense_Mutation	69						
LHFPL2	10184	broad.mit.edu	GRCh37	5	77805969	77805969	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01	TCGA-06-0173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380345.2:c.68C>T	p.Ala23Val	p.A23V	ENST00000380345	NM_005779.2	23	gCc/gTc	0			1			A	A/V	uc003kfo.2	protein_coding	YES	CCDS4042.1			68/687										0	c.(67-69)GCC>GTC			Transmembrane_helices:TMhelix,hmmpanther:PTHR12489,hmmpanther:PTHR12489:SF2,Pfam_domain:PF10242	lipoma HMGIC fusion partner-like 2				ENSP00000369702		5-Apr	1.65E-05					1.54E-05			rs746691650,COSM3410428	5-Apr	.		ENST00000380345	Transcript				integral to membrane		ENSG00000145685	g.chr5:77805969G>A	6588			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=LHPL2_HUMAN&rb=9&re=204&var=A23V	NA	getma.org/?cm=var&var=hg19,5,77805969,G,A&fts=all	A23V	--	--	1																																			0,1	1		possibly_damaging(0.903)	p.A23V	NM_005779	NP_005770		tolerated(0.07)	0,1	LHPL2_HUMAN	LHFPL2	HGNC	Q6ZUX7	LHPL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)			4	744	-		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)	UPI00001AB0A4	23			Helical; (Potential).		SNV	LHFPL2,missense_variant,p.Ala23Val,ENST00000380345,NM_005779.2;LHFPL2,missense_variant,p.Ala23Val,ENST00000515007,;LHFPL2,non_coding_transcript_exon_variant,,ENST00000512759,;LHFPL2,non_coding_transcript_exon_variant,,ENST00000503686,;LHFPL2,non_coding_transcript_exon_variant,,ENST00000510949,;	uc003kfo.2	c.68C>T	744/5043	2	2			c.68C>T						5	SNP	c.(67-69)GCC>GTC	47	47				0	Broad	lipoma HMGIC fusion partner-like 2			77805969		0.438	ENSG00000145685	8608	g.chr5:77805969G>A		integral to membrane								-2.305338	KEEP	2	2	-1	18	32	2	2	-1	6.448055	18	32	0.066667	1	0	0	0	0	1	0	0	0	--	--		0	A				36	GBM-06-0173-TP	p.A23V	G	AATGAGCTCGGCAAAAGCCAC	NM_005779	NP_005770	77805969	Q6ZUX7	LHPL2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)	4	744	-	A	A		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)	Missense_Mutation	23			Helical; (Potential).			
LHFPL2	0	broad.mit.edu	GRCh37	5	77784877	77784877	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01	TCGA-16-1045-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380345.2:c.530G>A	p.Gly177Glu	p.G177E	ENST00000380345	NM_005779.2	177	gGa/gAa	0			1			T	G/E	uc003kfo.2	protein_coding	YES	CCDS4042.1			530/687										0	c.(529-531)GGA>GAA			hmmpanther:PTHR12489,hmmpanther:PTHR12489:SF2,Pfam_domain:PF10242	lipoma HMGIC fusion partner-like 2				ENSP00000369702		5-May									COSM3410427	5-May	.		ENST00000380345	Transcript				integral to membrane		ENSG00000145685	g.chr5:77784877C>T	6588			MODERATE		2.74	medium	getma.org/?cm=msa&ty=f&p=LHPL2_HUMAN&rb=9&re=204&var=G177E	NA	getma.org/?cm=var&var=hg19,5,77784877,C,T&fts=all	G177E	--	--	1																																			1	1		possibly_damaging(0.869)	p.G177E	NM_005779	NP_005770		deleterious(0.04)	1	LHPL2_HUMAN	LHFPL2	HGNC	Q6ZUX7	LHPL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)			5	1206	-		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)	UPI00001AB0A4	177					SNV	LHFPL2,missense_variant,p.Gly177Glu,ENST00000380345,NM_005779.2;LHFPL2,missense_variant,p.Gly177Glu,ENST00000515007,;LHFPL2,non_coding_transcript_exon_variant,,ENST00000502722,;	uc003kfo.2	c.530G>A	1206/5043	2	2			c.530G>A						5	SNP	c.(529-531)GGA>GAA	32	32				0	Broad	lipoma HMGIC fusion partner-like 2			77784877		0.512	ENSG00000145685	8608	g.chr5:77784877C>T		integral to membrane								113.46229	KEEP	19	34	-1	76	91	19	34	-1	125.526492	76	91	0.238342	1	0	0	0	0	1	0	0	0	--	--		0	T				157	GBM-16-1045-TP	p.G177E	C	GGAGCAGTCTCCAGGTTTGTA	NM_005779	NP_005770	77784877	Q6ZUX7	LHPL2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)	5	1206	-	T	T		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)	Missense_Mutation	177						
LHFPL3	0	broad.mit.edu	GRCh37	7	103969236	103969237	+	5_prime_UTR_variant	5'UTR	INS	-	-	GCC			TCGA-14-1829-01	TCGA-14-1829-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000424859.1:c.-25_-23dupCGC		*9*	ENST00000424859	NM_199000.2			0		GCC:0.034	1	GCC:0.0014		GCC		uc003vce.2	protein_coding					-/669										0	c.(7-12)insGCC				lipoma HMGIC fusion partner-like 3		GCC:0.002		ENSP00000393128	GCC:0	3-Jan									rs534523702	3-Jan	.		ENST00000424859	Transcript		GCC:0.0096		integral to membrane		ENSG00000187416	g.chr7:103969236_103969237insGCC	6589	11		MODIFIER								--	--	1																																		LHFPL3_uc003vcf.2_In_Frame_Ins_p.14_15insA					p.14_15insA	NM_199000	NP_945351	GCC:0			LHPL3_HUMAN	LHFPL3	HGNC	Q86UP9	LHPL3_HUMAN					1	133_134	+			UPI000020F876	Error:Variant_position_missing_in_Q86UP9_after_alignment_1					insertion	LHFPL3,inframe_insertion,p.Ala14dup,ENST00000535008,;LHFPL3,inframe_insertion,p.Ala14dup,ENST00000543266,;LHFPL3,5_prime_UTR_variant,,ENST00000424859,NM_199000.2;LHFPL3,5_prime_UTR_variant,,ENST00000401970,;	uc003vce.2	c.9_10insGCC	133-134/1852	5	5			c.9_10insGCC						7	INS	c.(7-12)insGCC	9	9				0	Broad	lipoma HMGIC fusion partner-like 3			103969237		0.396	ENSG00000187416	8609	g.chr7:103969236_103969237insGCC		integral to membrane																					0.31	1	0	0	1	1	0	0	0	0	--	--		0	GCC			LHFPL3_uc003vcf.2_In_Frame_Ins_p.14_15insA	149	GBM-14-1829-TP	p.14_15insA	-	gAATGCCCGGAgccgccgccgc	NM_199000	NP_945351	103969236	Q86UP9	LHPL3_HUMAN	0			1	133_134	+	GCC	GCC			In_Frame_Ins	Error:Variant_position_missing_in_Q86UP9_after_alignment_1						
LHFPL3	0	broad.mit.edu	GRCh37	7	104377161	104377161	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-19-2624-01	TCGA-19-2624-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000424859.1:c.443G>C	p.Gly148Ala	p.G148A	ENST00000424859	NM_199000.2	148	gGc/gCc	0			1			C	G/A	uc003vce.2	protein_coding					443/669										0	c.(484-486)GGC>GCC			Pfam_domain:PF10242,hmmpanther:PTHR12489,hmmpanther:PTHR12489:SF13	lipoma HMGIC fusion partner-like 3				ENSP00000393128		3-Feb									COSM3411441,COSM3411442	3-Feb	.		ENST00000424859	Transcript				integral to membrane		ENSG00000187416	g.chr7:104377161G>C	6589			MODERATE		3.205	medium	getma.org/?cm=msa&ty=f&p=LHPL3_HUMAN&rb=22&re=199&var=G148A	NA	getma.org/?cm=var&var=hg19,7,104377161,G,C&fts=all	G148A	--	--	1																																		LHFPL3_uc003vcf.2_Missense_Mutation_p.G162A	1,1			probably_damaging(0.973)	p.G162A	NM_199000	NP_945351		deleterious(0.01)	1,1	LHPL3_HUMAN	LHFPL3	HGNC	Q86UP9	LHPL3_HUMAN					2	609	+			UPI000020F876	148					SNV	LHFPL3,missense_variant,p.Gly162Ala,ENST00000535008,;LHFPL3,missense_variant,p.Gly148Ala,ENST00000424859,NM_199000.2;LHFPL3,missense_variant,p.Gly162Ala,ENST00000543266,;LHFPL3,missense_variant,p.Gly148Ala,ENST00000401970,;LHFPL3-AS1,downstream_gene_variant,,ENST00000449764,;LHFPL3-AS1,downstream_gene_variant,,ENST00000433514,;	uc003vce.2	c.485G>C	609/1852	3	3			c.485G>C						7	SNP	c.(484-486)GGC>GCC	64	64				0	Broad	lipoma HMGIC fusion partner-like 3			104377161		0.418	ENSG00000187416	8609	g.chr7:104377161G>C		integral to membrane								35.860877	KEEP	3	10	-1	20	23	3	10	-1	38.258163	20	23	0.26087	1	0	0	0	0	1	0	0	0	--	--		0	C			LHFPL3_uc003vcf.2_Missense_Mutation_p.G162A	164	GBM-19-2624-TP	p.G162A	G	TTCCCTGATGGCTGGGACTCA	NM_199000	NP_945351	104377161	Q86UP9	LHPL3_HUMAN	0			2	609	+	C	C			Missense_Mutation	148						
LHFPL4	375323	broad.mit.edu	GRCh37	3	9594193	9594193	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-5859-01	TCGA-06-5859-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000287585.6:c.171C>A	p.Gly57=	p.G57=	ENST00000287585	NM_198560.2	57	ggC/ggA	0			1			T	G	uc003bry.2	protein_coding	YES	CCDS33691.1			171/744									ovary(2)|skin(1)	3	c.(169-171)GGC>GGA			hmmpanther:PTHR12489,hmmpanther:PTHR12489:SF14,Pfam_domain:PF10242	lipoma HMGIC fusion partner-like 4				ENSP00000287585		4-Feb									COSM2153384	4-Feb	.		ENST00000287585	Transcript				integral to membrane		ENSG00000156959	g.chr3:9594193G>T	29568			LOW								--	--	1																																			1	1			p.G57G	NM_198560	NP_940962			1	LHPL4_HUMAN	LHFPL4	HGNC	Q7Z7J7	LHPL4_HUMAN					2	457	-	Medulloblastoma(99;0.227)		UPI000019B16A	57					SNV	LHFPL4,synonymous_variant,p.=,ENST00000287585,NM_198560.2;LHFPL4,upstream_gene_variant,,ENST00000495730,;LHFPL4,downstream_gene_variant,,ENST00000498277,;	uc003bry.2	c.171C>A	457/1444	2	2			c.171C>A						3	SNP	c.(169-171)GGC>GGA	17	17			ovary(2)|skin(1)	3	Broad	lipoma HMGIC fusion partner-like 4			9594193		0.652	ENSG00000156959	8610	g.chr3:9594193G>T		integral to membrane								74.332378	KEEP	10	13	0.434782609	5	9	10	13	0.434782609	74.8123	5	9	0.621622	1	0	0	0	0	0	0	1	0	--	--		0	T				103	GBM-06-5859-TP	p.G57G	G	GGCCGAAGTAGCCAGGCTTGG	NM_198560	NP_940962	9594193	Q7Z7J7	LHPL4_HUMAN	0			2	457	-	T	T	Medulloblastoma(99;0.227)		Silent	57						
LHX1	0	broad.mit.edu	GRCh37	17	35297618	35297618	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-12-3650-01	TCGA-12-3650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254457.5:c.202C>G	p.Gln68Glu	p.Q68E	ENST00000254457	NM_005568.3	68	Cag/Gag	0			1			G	Q/E	uc002hnh.1	protein_coding	YES	CCDS11316.1			202/1221									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(202-204)CAG>GAG			PROSITE_profiles:PS50023,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF94,PROSITE_patterns:PS00478,Gene3D:2.10.110.10,Pfam_domain:PF00412,SMART_domains:SM00132,Superfamily_domains:SSF57716	LIM homeobox protein 1				ENSP00000254457		5-Feb									COSM3402804	5-Feb	.		ENST00000254457	Transcript			cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	ENSG00000132130	g.chr17:35297618C>G	6593			MODERATE		1.24	low	getma.org/?cm=msa&ty=f&p=LHX1_HUMAN&rb=63&re=122&var=Q68E	getma.org/pdb.php?prot=LHX1_HUMAN&from=63&to=122&var=Q68E	getma.org/?cm=var&var=hg19,17,35297618,C,G&fts=all	Q68E	--	--	1																																		LHX1_uc010cux.1_5'UTR	1	1		benign(0.097)	p.Q68E	NM_005568	NP_005559		tolerated(0.06)	1	LHX1_HUMAN	LHX1	HGNC	P48742	LHX1_HUMAN			Q58F18_HUMAN		2	1198	+		Breast(25;0.00607)	UPI000013CE37	68			LIM zinc-binding 2.		SNV	LHX1,missense_variant,p.Gln68Glu,ENST00000254457,NM_005568.3;RP11-445F12.2,intron_variant,,ENST00000607336,;RP11-445F12.1,upstream_gene_variant,,ENST00000525111,;RP11-445F12.1,upstream_gene_variant,,ENST00000529264,;RP11-445F12.1,upstream_gene_variant,,ENST00000532387,;RP11-445F12.1,upstream_gene_variant,,ENST00000528383,;LHX1,downstream_gene_variant,,ENST00000559335,;LHX1,upstream_gene_variant,,ENST00000589584,;LHX1,non_coding_transcript_exon_variant,,ENST00000557970,;LHX1,non_coding_transcript_exon_variant,,ENST00000559572,;	uc002hnh.1	c.202C>G	1613/4121	3	3			c.202C>G						17	SNP	c.(202-204)CAG>GAG	1	1			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	LIM homeobox protein 1			35297618		0.448	ENSG00000132130	8613	g.chr17:35297618C>G	cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding							4.739108	KEEP	0	2	-1	10	3	0	2	-1	6.696324	10	3	0.133333	1	0	0	0	0	1	0	0	0	--	--		0	G			LHX1_uc010cux.1_5'UTR	126	GBM-12-3650-TP	p.Q68E	C	AGGCTGCGCTCAGGGCATCTC	NM_005568	NP_005559	35297618	P48742	LHX1_HUMAN	0			2	1198	+	G	G		Breast(25;0.00607)	Missense_Mutation	68			LIM zinc-binding 2.			
LHX2	0	broad.mit.edu	GRCh37	9	126794913	126794913	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01	TCGA-76-4928-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373615.4:c.1148C>T	p.Thr383Ile	p.T383I	ENST00000373615	NM_004789.3	383	aCt/aTt	0			1			T	T/I	uc004boe.1	protein_coding	YES	CCDS6853.1			1148/1221										0	c.(1147-1149)ACT>ATT			Low_complexity_(Seg):seg,hmmpanther:PTHR24208:SF90,hmmpanther:PTHR24208	LIM homeobox protein 2				ENSP00000362717		5-May									COSM3413328	5-May	.		ENST00000373615	Transcript				nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000106689	g.chr9:126794913C>T	6594			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=LHX2_HUMAN&rb=324&re=406&var=T383I	NA	getma.org/?cm=var&var=hg19,9,126794913,C,T&fts=all	T383I	--	--	1																																		LHX2_uc010mwi.1_Missense_Mutation_p.T391I	1	1		probably_damaging(0.991)	p.T383I	NM_004789	NP_004780		deleterious_low_confidence(0)	1	LHX2_HUMAN	LHX2	HGNC	P50458	LHX2_HUMAN					5	1887	+			UPI000012E659	383					SNV	LHX2,missense_variant,p.Thr383Ile,ENST00000373615,NM_004789.3;LHX2,missense_variant,p.Thr389Ile,ENST00000446480,;LHX2,3_prime_UTR_variant,,ENST00000488674,;RP11-85O21.5,upstream_gene_variant,,ENST00000429482,;	uc004boe.1	c.1148C>T	1887/2554	2	2			c.1148C>T						9	SNP	c.(1147-1149)ACT>ATT	46	46				0	Broad	LIM homeobox protein 2			126794913		0.592	ENSG00000106689	8614	g.chr9:126794913C>T		nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding							22.785266	KEEP	10	7	-1	57	56	10	7	-1	38.361683	57	56	0.138211	1	0	0	0	0	1	0	0	0	--	--		0	T			LHX2_uc010mwi.1_Missense_Mutation_p.T391I	268	GBM-76-4928-TP	p.T383I	C	TCCGTCTTAACTTCTGTGCCT	NM_004789	NP_004780	126794913	P50458	LHX2_HUMAN	0			5	1887	+	T	T			Missense_Mutation	383						
LHX3	8022	broad.mit.edu	GRCh37	9	139091685	139091685	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01	TCGA-06-5859-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371746.3:c.308C>T	p.Pro103Leu	p.P103L	ENST00000371746	NM_014564.3	103	cCg/cTg	0			1			A	P/L	uc004cha.2	protein_coding		CCDS6994.1			293/1194									skin(1)	1	c.(292-294)CCG>CTG			Superfamily_domains:SSF57716,SMART_domains:SM00132,Gene3D:2.10.110.10,Pfam_domain:PF00412,PROSITE_patterns:PS00478,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF65,PROSITE_profiles:PS50023	LIM homeobox protein 3 isoform a				ENSP00000360813		6-Mar									COSM2153395	6-Mar	.		ENST00000371748	Transcript	1		inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000107187	g.chr9:139091685G>A	6595			MODERATE		0.59	neutral	getma.org/?cm=msa&ty=f&p=LHX3_HUMAN&rb=90&re=149&var=P98L	getma.org/pdb.php?prot=LHX3_HUMAN&from=90&to=149&var=P98L	getma.org/?cm=var&var=hg19,9,139091685,G,A&fts=all	P98L	--	--	1																																		LHX3_uc004cgz.2_Missense_Mutation_p.P103L	1			probably_damaging(0.962)	p.P98L	NM_178138	NP_835258		tolerated(0.06)	1	LHX3_HUMAN	LHX3	HGNC	Q9UBR4	LHX3_HUMAN		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)	F1T0D5_HUMAN		3	390	-		Myeloproliferative disorder(178;0.0511)	UPI000012E65D	98			LIM zinc-binding 2.		SNV	LHX3,missense_variant,p.Pro103Leu,ENST00000371746,NM_014564.3;LHX3,missense_variant,p.Pro98Leu,ENST00000371748,NM_178138.4;	uc004cha.2	c.293C>T	390/2365	2	2			c.293C>T						9	SNP	c.(292-294)CCG>CTG	27	27			skin(1)	1	Broad	LIM homeobox protein 3 isoform a			139091685		0.716	ENSG00000107187	8615	g.chr9:139091685G>A	inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							37.727728	KEEP	5	6	-1	5	7	5	6	-1	37.77137	5	7	0.55	1	0	0	0	0	1	0	0	0	--	--		0	A			LHX3_uc004cgz.2_Missense_Mutation_p.P103L	103	GBM-06-5859-TP	p.P98L	G	CTGCGTGGGCGGGATGCCCAG	NM_178138	NP_835258	139091685	Q9UBR4	LHX3_HUMAN	0		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)	3	390	-	A	A		Myeloproliferative disorder(178;0.0511)	Missense_Mutation	98			LIM zinc-binding 2.			
LHX3	8022		GRCh37	9	139092527	139092527	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000371746.3:c.167G>T	p.Trp56Leu	p.W56L	ENST00000371746	NM_014564.3	56	tGg/tTg	0																																																																																																																																																																																																																																												
LHX5	64211	broad.mit.edu	GRCh37	12	113905175	113905175	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01	TCGA-06-0155-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261731.3:c.727G>A	p.Ala243Thr	p.A243T	ENST00000261731	NM_022363.2	243	Gcc/Acc	0			1			T	A/T	uc001tvj.1	protein_coding	YES	CCDS9171.1			727/1209										0	c.(727-729)GCC>ACC			hmmpanther:PTHR24208:SF83,hmmpanther:PTHR24208	LIM homeobox protein 5				ENSP00000261731		5-Apr									COSM3398383	5-Apr	.		ENST00000261731	Transcript				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000089116	g.chr12:113905175C>T	14216			MODERATE		1.065	low	getma.org/?cm=msa&ty=f&p=LHX5_HUMAN&rb=208&re=285&var=A243T	getma.org/pdb.php?prot=LHX5_HUMAN&from=238&to=255&var=A243T	getma.org/?cm=var&var=hg19,12,113905175,C,T&fts=all	A243T	--	--	1																																			1	1		benign(0.014)	p.A243T	NM_022363	NP_071758		tolerated(0.09)	1	LHX5_HUMAN	LHX5	HGNC	Q9H2C1	LHX5_HUMAN					4	1301	-			UPI000012E662	243					SNV	LHX5,missense_variant,p.Ala243Thr,ENST00000261731,NM_022363.2;RP11-82C23.2,upstream_gene_variant,,ENST00000551357,;LHX5,downstream_gene_variant,,ENST00000557836,;	uc001tvj.1	c.727G>A	1301/2939	2	2			c.727G>A						12	SNP	c.(727-729)GCC>ACC	29	29				0	Broad	LIM homeobox protein 5			113905175		0.652	ENSG00000089116	8617	g.chr12:113905175C>T		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							5.116537	KEEP	3	0	-1	10	8	3	0	-1	7.23423	10	8	0.157895	1	0	0	0	0	1	0	0	0	--	--		0	T				27	GBM-06-0155-TP	p.A243T	C	GCGCCTAGGGCGCTCAGCTGT	NM_022363	NP_071758	113905175	Q9H2C1	LHX5_HUMAN	0			4	1301	-	T	T			Missense_Mutation	243						
LHX8	431707	broad.mit.edu	GRCh37	1	75614357	75614357	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01	TCGA-06-0213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294638.5:c.800G>A	p.Arg267His	p.R267H	ENST00000294638	NM_001001933.1	267	cGt/cAt	0			1			A	R/H	uc001dgo.2	protein_coding	YES	CCDS30756.1			800/1071									ovary(3)	3	c.(799-801)CGT>CAT			Superfamily_domains:SSF46689,SMART_domains:SM00389,Pfam_domain:PF00046,Gene3D:1.10.10.60,PROSITE_patterns:PS00027,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF9,PROSITE_profiles:PS50071	LIM homeobox 8				ENSP00000294638		10-Aug									COSM2150860	10-Aug	.		ENST00000294638	Transcript				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000162624	g.chr1:75614357G>A	28838			MODERATE		2.885	medium	getma.org/?cm=msa&ty=f&p=LHX8_HUMAN&rb=226&re=282&var=R267H	getma.org/pdb.php?prot=LHX8_HUMAN&from=226&to=282&var=R267H	getma.org/?cm=var&var=hg19,1,75614357,G,A&fts=all	R267H	--	--	1																																		LHX8_uc001dgq.2_Missense_Mutation_p.R206H	1	1		probably_damaging(0.999)	p.R267H	NM_001001933	NP_001001933		deleterious(0)	1	LHX8_HUMAN	LHX8	HGNC	Q68G74	LHX8_HUMAN			Q9BYB7_HUMAN,Q6SV70_HUMAN		8	1464	+			UPI00001972E8	267			Homeobox.		SNV	LHX8,missense_variant,p.Arg267His,ENST00000294638,NM_001001933.1;LHX8,missense_variant,p.Arg257His,ENST00000356261,NM_001256114.1;	uc001dgo.2	c.800G>A	1464/2373	2	2			c.800G>A						1	SNP	c.(799-801)CGT>CAT	24	24			ovary(3)	3	Broad	LIM homeobox 8			75614357		0.269	ENSG00000162624	8619	g.chr1:75614357G>A		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							69.223727	KEEP	13	15	-1	23	30	13	15	-1	70.899363	23	30	0.342105	1	0	0	0	0	1	0	0	0	--	--		0	A			LHX8_uc001dgq.2_Missense_Mutation_p.R206H	49	GBM-06-0213-TP	p.R267H	G	TTGAGCAGACGTGTGATACAG	NM_001001933	NP_001001933	75614357	Q68G74	LHX8_HUMAN	0			8	1464	+	A	A			Missense_Mutation	267			Homeobox.			
LHX9	0	broad.mit.edu	GRCh37	1	197889248	197889248	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367387.4:c.321C>T	p.Ser107=	p.S107=	ENST00000367387	NM_020204.2	107	tcC/tcT	0			1			T	S	uc001guk.1	protein_coding	YES	CCDS1393.1			321/1194									ovary(1)	1	c.(319-321)TCC>TCT			Gene3D:2.10.110.10,Pfam_domain:PF00412,PROSITE_profiles:PS50023,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF95,Low_complexity_(Seg):seg,SMART_domains:SM00132,Superfamily_domains:SSF57716	LIM homeobox 9 isoform 1				ENSP00000356357		5-Feb									COSM3400168,COSM3400169	5-Feb	.		ENST00000367387	Transcript			motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	ENSG00000143355	g.chr1:197889248C>T	14222			LOW								--	--	1																																		LHX9_uc001gui.1_Silent_p.S98S|LHX9_uc001guj.1_Silent_p.S113S	1,1	1			p.S107S	NM_020204	NP_064589			1,1	LHX9_HUMAN	LHX9	HGNC	Q9NQ69	LHX9_HUMAN					2	758	+			UPI00001B6453	107			LIM zinc-binding 1.		SNV	LHX9,synonymous_variant,p.=,ENST00000367390,NM_001014434.1;LHX9,synonymous_variant,p.=,ENST00000367387,NM_020204.2;LHX9,synonymous_variant,p.=,ENST00000337020,;LHX9,synonymous_variant,p.=,ENST00000561173,;LHX9,synonymous_variant,p.=,ENST00000367391,;LHX9,downstream_gene_variant,,ENST00000367388,;LHX9,downstream_gene_variant,,ENST00000606127,;LHX9,downstream_gene_variant,,ENST00000475727,;	uc001guk.1	c.321C>T	746/2503	1	1			c.321C>T						1	SNP	c.(319-321)TCC>TCT	11	11			ovary(1)	1	Broad	LIM homeobox 9 isoform 1			197889248		0.557	ENSG00000143355	8620	g.chr1:197889248C>T	motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding							373.040499	KEEP	54	75	-1	56	97	54	75	-1	373.316432	56	97	0.464567	1	0	0	0	0	0	0	1	0	--	--		0	T			LHX9_uc001gui.1_Silent_p.S98S|LHX9_uc001guj.1_Silent_p.S113S	177	GBM-19-5959-TP	p.S107S	C	CCCTCGAGTCCGAGCTCACCT	NM_020204	NP_064589	197889248	Q9NQ69	LHX9_HUMAN	0			2	758	+	T	T			Silent	107			LIM zinc-binding 1.			
LIAS	11019		GRCh37	4	39462478	39462478	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000261434.3:c.114C>A	p.Leu38=	p.L38=	ENST00000261434	NM_006859.3	38	ctC/ctA	0																																																																																																																																																																																																																																												
LIG1	3978	broad.mit.edu	GRCh37	19	48668866	48668866	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A			TCGA-06-0173-01	TCGA-06-0173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263274.7:c.-43C>T		p.*15*	ENST00000263274	NM_000234.1			0	A:0.0002	A:0.0015	1	A:0		A		uc002pia.1	protein_coding	YES	CCDS12711.1			-/2760									large_intestine(2)|lung(1)	3	c.(-44--40)GACGA>GATGA		NER		DNA ligase I	Bleomycin(DB00290)	A:0	A:0	ENSP00000263274	A:0	28-Feb	0.000338	0.000288			0.000151	0.000554			rs368100309	28-Feb	common_variant		ENST00000263274	Transcript		A:0.0004	anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	ENSG00000105486	g.chr19:48668866G>A	6598			MODIFIER								--	--	1																																		LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Translation_Start_Site|LIG1_uc010xzg.1_Translation_Start_Site|LIG1_uc010xzh.1_RNA		1				NM_000234	NP_000225	A:0			DNLI1_HUMAN	LIG1	HGNC	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Q76GR4_HUMAN,M0R1S4_HUMAN,M0QY71_HUMAN		2	78	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	UPI0000129656						SNV	LIG1,5_prime_UTR_variant,,ENST00000263274,NM_000234.1;LIG1,5_prime_UTR_variant,,ENST00000427526,;LIG1,5_prime_UTR_variant,,ENST00000536218,;LIG1,5_prime_UTR_variant,,ENST00000596549,;LIG1,5_prime_UTR_variant,,ENST00000593425,;LIG1,5_prime_UTR_variant,,ENST00000598938,;LIG1,non_coding_transcript_exon_variant,,ENST00000599165,;LIG1,5_prime_UTR_variant,,ENST00000594759,;LIG1,5_prime_UTR_variant,,ENST00000601091,;LIG1,5_prime_UTR_variant,,ENST00000542460,;LIG1,non_coding_transcript_exon_variant,,ENST00000600055,;	uc002pia.1	c.-42C>T	378/3384	1	1			c.-42C>T						19	SNP	c.(-44--40)GACGA>GATGA	59	59			large_intestine(2)|lung(1)	3	Broad	DNA ligase I	NER	Bleomycin(DB00290)	48668866		0.463	ENSG00000105486	8624	g.chr19:48668866G>A	anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding							-33.4596	KEEP	5	5	-1	115	126	5	5	-1	14.425313	115	126	0.034483	1	0	0	0	0	0	0	0	0	--	--		0	A			LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Translation_Start_Site|LIG1_uc010xzg.1_Translation_Start_Site|LIG1_uc010xzh.1_RNA	36	GBM-06-0173-TP		G	ACTTTTCTTCGTCTGTCAGCT	NM_000234	NP_000225	48668866	P18858	DNLI1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	2	78	-	A	A		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	Translation_Start_Site							
LIG3	3980	broad.mit.edu	GRCh37	17	33323604	33323604	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0237-01	TCGA-06-0237-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378526.4:c.1755C>T	p.Phe585=	p.F585=	ENST00000378526	NM_013975.3	585	ttC/ttT	0			1			T	F	uc002hik.1	protein_coding	YES	CCDS11284.2			1755/3030									skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1)	9	c.(1753-1755)TTC>TTT		Other_BER_factors	PROSITE_profiles:PS50160,hmmpanther:PTHR10459,hmmpanther:PTHR10459:SF11,Pfam_domain:PF01068,Gene3D:3.30.470.30,TIGRFAM_domain:TIGR00574,Superfamily_domains:SSF56091	ligase III, DNA, ATP-dependent isoform alpha	Bleomycin(DB00290)			ENSP00000367787		20-Nov									COSM2151040,COSM2151039	20-Nov	.		ENST00000378526	Transcript			base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding	ENSG00000005156	g.chr17:33323604C>T	6600			LOW								--	--	1																																		LIG3_uc002hij.2_Silent_p.F585F	1,1	1			p.F585F	NM_013975	NP_039269			1,1	DNLI3_HUMAN	LIG3	HGNC	P49916	DNLI3_HUMAN			E5KLB5_HUMAN,K7EQB6_HUMAN,K7ENR9_HUMAN,C4B7Q3_HUMAN,B7Z6I3_HUMAN		11	1863	+		Ovarian(249;0.17)	UPI0000350B71	585					SNV	LIG3,synonymous_variant,p.=,ENST00000378526,NM_013975.3;LIG3,synonymous_variant,p.=,ENST00000262327,NM_002311.4;LIG3,downstream_gene_variant,,ENST00000585941,;LIG3,downstream_gene_variant,,ENST00000585740,;LIG3,non_coding_transcript_exon_variant,,ENST00000590630,;LIG3,non_coding_transcript_exon_variant,,ENST00000586058,;LIG3,upstream_gene_variant,,ENST00000593099,;LIG3,upstream_gene_variant,,ENST00000586119,;LIG3,downstream_gene_variant,,ENST00000588713,;LIG3,upstream_gene_variant,,ENST00000585370,;	uc002hik.1	c.1755C>T	1888/3721	1	1			c.1755C>T						17	SNP	c.(1753-1755)TTC>TTT	7	7			skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1)	9	Broad	ligase III, DNA, ATP-dependent isoform alpha	Other_BER_factors	Bleomycin(DB00290)	33323604		0.428	ENSG00000005156	8625	g.chr17:33323604C>T	base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding							275.316543	KEEP	56	45	-1	104	58	56	45	-1	278.164513	104	58	0.381974	1	0	0	0	0	0	0	1	0	--	--		0	T			LIG3_uc002hij.2_Silent_p.F585F	54	GBM-06-0237-TP	p.F585F	C	AAGCAGCCTTCCAGGATGCTA	NM_013975	NP_039269	33323604	P49916	DNLI3_HUMAN	0			11	1863	+	T	T		Ovarian(249;0.17)	Silent	585						
LILRA1	11024	broad.mit.edu	GRCh37	19	55107682	55107682	+	synonymous_variant	Silent	SNP	G	G	A	rs138767008		TCGA-06-0645-01	TCGA-06-0645-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251372.3:c.987G>A	p.Ser329=	p.S329=	ENST00000251372	NM_006863.3	329	tcG/tcA	0	T:0.0005		1			A	S	uc002qgh.1	protein_coding	YES	CCDS12901.1			987/1470									skin(2)|ovary(1)	3	c.(985-987)TCG>TCA			hmmpanther:PTHR11738:SF89,hmmpanther:PTHR11738,Pfam_domain:PF13927,Gene3D:2.60.40.10,PIRSF_domain:PIRSF001979,Superfamily_domains:SSF48726	leukocyte immunoglobulin-like receptor,			T:0	ENSP00000251372		10-Jul	2.47E-05		8.64E-05			1.50E-05		6.08E-05	rs138767008,COSM2151283	10-Jul	.		ENST00000251372	Transcript			cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	ENSG00000104974	g.chr19:55107682G>A	6602			LOW								--	--	1																																		LILRA2_uc010yfg.1_Silent_p.S327S|LILRA1_uc010yfh.1_Silent_p.S329S	0,1	1			p.S329S	NM_006863	NP_006854			0,1	LIRA1_HUMAN	LILRA1	HGNC	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)			7	1169	+			UPI0000034C00	329			Ig-like C2-type 4.|Extracellular (Potential).		SNV	LILRA1,synonymous_variant,p.=,ENST00000251372,NM_006863.3;LILRA1,intron_variant,,ENST00000453777,NM_001278318.1;LILRB1,intron_variant,,ENST00000396321,;LILRB1,intron_variant,,ENST00000418536,;LILRB1,intron_variant,,ENST00000448689,;LILRA1,non_coding_transcript_exon_variant,,ENST00000473156,;LILRA1,non_coding_transcript_exon_variant,,ENST00000495417,;LILRA1,non_coding_transcript_exon_variant,,ENST00000477255,;	uc002qgh.1	c.987G>A	1169/1910	2	2			c.987G>A						19	SNP	c.(985-987)TCG>TCA	21	21			skin(2)|ovary(1)	3	Broad	leukocyte immunoglobulin-like receptor,			55107682		0.612	ENSG00000104974	8627	g.chr19:55107682G>A	cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity							43.962271	KEEP	9	11	-1	28	35	9	11	-1	48.899722	28	35	0.22973	1	0	0	0	0	0	0	1	0	--	--		0	A			LILRA2_uc010yfg.1_Silent_p.S327S|LILRA1_uc010yfh.1_Silent_p.S329S	59	GBM-06-0645-TP	p.S329S	G	CCTTCATCTCGGTGCATCCGG	NM_006863	NP_006854	55107682	O75019	LIRA1_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0348)	7	1169	+	A	A			Silent	329			Ig-like C2-type 4.|Extracellular (Potential).			
LILRA1	0	broad.mit.edu	GRCh37	19	55106242	55106242	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-28-5214-01	TCGA-28-5214-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251372.3:c.183T>C	p.Tyr61=	p.Y61=	ENST00000251372	NM_006863.3	61	taT/taC	0			1			C	Y	uc002qgh.1	protein_coding	YES	CCDS12901.1			183/1470									skin(2)|ovary(1)	3	c.(181-183)TAT>TAC			PROSITE_profiles:PS50835,hmmpanther:PTHR11738:SF89,hmmpanther:PTHR11738,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00408,PIRSF_domain:PIRSF001979,SMART_domains:SM00409,Superfamily_domains:SSF48726	leukocyte immunoglobulin-like receptor,				ENSP00000251372		10-Apr	8.24E-06					1.50E-05			rs774697016,COSM3404600	10-Apr	.		ENST00000251372	Transcript			cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	ENSG00000104974	g.chr19:55106242T>C	6602			LOW								--	--	1																																		LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Silent_p.Y61Y	0,1	1			p.Y61Y	NM_006863	NP_006854			0,1	LIRA1_HUMAN	LILRA1	HGNC	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)			4	365	+			UPI0000034C00	61			Ig-like C2-type 1.|Extracellular (Potential).		SNV	LILRA1,synonymous_variant,p.=,ENST00000453777,NM_001278318.1;LILRA1,synonymous_variant,p.=,ENST00000251372,NM_006863.3;LILRB1,intron_variant,,ENST00000396321,;LILRB1,intron_variant,,ENST00000418536,;LILRB1,intron_variant,,ENST00000448689,;CTB-83J4.2,downstream_gene_variant,,ENST00000596330,;LILRA1,non_coding_transcript_exon_variant,,ENST00000473156,;LILRA1,non_coding_transcript_exon_variant,,ENST00000495417,;LILRA1,non_coding_transcript_exon_variant,,ENST00000477255,;	uc002qgh.1	c.183T>C	365/1910	3	3			c.183T>C						19	SNP	c.(181-183)TAT>TAC	10	10			skin(2)|ovary(1)	3	Broad	leukocyte immunoglobulin-like receptor,			55106242		0.577	ENSG00000104974	8627	g.chr19:55106242T>C	cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity							250.699548	KEEP	46	40	-1	115	114	46	40	-1	264.282805	115	114	0.273038	1	0	0	0	0	0	0	1	0	--	--		0	C			LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Silent_p.Y61Y	221	GBM-28-5214-TP	p.Y61Y	T	ACCGTCTGTATAGAGAAAAGA	NM_006863	NP_006854	55106242	O75019	LIRA1_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0348)	4	365	+	C	C			Silent	61			Ig-like C2-type 1.|Extracellular (Potential).			
LILRA2	0	broad.mit.edu	GRCh37	19	55086977	55086977	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2528-01	TCGA-27-2528-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251377.3:c.910G>A	p.Glu304Lys	p.E304K	ENST00000251377		304	Gag/Aag	0	A:0.0002		1			A	E/K	uc002qgg.3	protein_coding	YES	CCDS46179.1			910/1452									ovary(1)	1	c.(910-912)GAG>AAG			Gene3D:2.60.40.10,Pfam_domain:PF13895,PIRSF_domain:PIRSF001979,PROSITE_profiles:PS50835,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF90,SMART_domains:SM00409,Superfamily_domains:SSF48726	leukocyte immunoglobulin-like receptor,			A:0	ENSP00000251377		9-Jun	2.47E-05					1.52E-05		6.06E-05	rs372106807,COSM440283,COSM3404599	9-Jun	.		ENST00000251377	Transcript			defense response	integral to membrane	antigen binding|receptor activity	ENSG00000239998	g.chr19:55086977G>A	6603			MODERATE		1.88	low	getma.org/?cm=msa&ty=f&p=LIRA2_HUMAN&rb=223&re=316&var=E304K	getma.org/pdb.php?prot=LIRA2_HUMAN&from=223&to=316&var=E304K	getma.org/?cm=var&var=hg19,19,55086977,G,A&fts=all	E304K	--	--	1																																		LILRA2_uc010ern.2_Missense_Mutation_p.E304K|LILRA2_uc002qgf.2_Missense_Mutation_p.E304K|LILRA2_uc010yfe.1_Missense_Mutation_p.E304K|LILRA2_uc010yff.1_Missense_Mutation_p.E292K|LILRA2_uc010ero.2_Missense_Mutation_p.E292K|LILRA2_uc010yfg.1_Intron	0,1,1	1		benign(0.027)	p.E304K	NM_001130917	NP_001124389		tolerated(0.09)	0,1,1	LIRA2_HUMAN	LILRA2	HGNC	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	E9PDF4_HUMAN		5	999	+			UPI0000034C01	304			Ig-like C2-type 3.|Extracellular (Potential).		SNV	LILRA2,missense_variant,p.Glu304Lys,ENST00000251377,;LILRA2,missense_variant,p.Glu304Lys,ENST00000391738,NM_001130917.1;LILRA2,missense_variant,p.Glu304Lys,ENST00000251376,NM_006866.2;LILRA2,missense_variant,p.Glu304Lys,ENST00000439534,;LILRA2,missense_variant,p.Glu292Lys,ENST00000391737,;LILRB1,intron_variant,,ENST00000396321,;LILRB1,intron_variant,,ENST00000418536,;LILRB1,intron_variant,,ENST00000448689,;LILRA2,downstream_gene_variant,,ENST00000495786,;LILRA2,upstream_gene_variant,,ENST00000472992,;	uc002qgg.3	c.910G>A	1043/1799	2	2			c.910G>A						19	SNP	c.(910-912)GAG>AAG	33	33			ovary(1)	1	Broad	leukocyte immunoglobulin-like receptor,			55086977		0.677	ENSG00000239998	8628	g.chr19:55086977G>A	defense response	integral to membrane	antigen binding|receptor activity							72.532324	KEEP	18	20	-1	71	75	18	20	-1	86.520368	71	75	0.196319	1	0	0	0	0	1	0	0	0	--	--		0	A			LILRA2_uc010ern.2_Missense_Mutation_p.E304K|LILRA2_uc002qgf.2_Missense_Mutation_p.E304K|LILRA2_uc010yfe.1_Missense_Mutation_p.E304K|LILRA2_uc010yff.1_Missense_Mutation_p.E292K|LILRA2_uc010ero.2_Missense_Mutation_p.E292K|LILRA2_uc010yfg.1_Intron	205	GBM-27-2528-TP	p.E304K	G	CCTCTCCTCCGAGTGGTCGGC	NM_001130917	NP_001124389	55086977	Q8N149	LIRA2_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0963)	5	999	+	A	A			Missense_Mutation	304			Ig-like C2-type 3.|Extracellular (Potential).			
LILRA3	11026		GRCh37	19	54803127	54803127	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000251390.3:c.550G>A	p.Val184Met	p.V184M	ENST00000251390	NM_006865.3	184	Gtg/Atg	0																																																																																																																																																																																																																																												
LILRA3	11026		GRCh37	19	54800078	54800078	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000251390.3:c.1288C>T	p.Gln430Ter	p.Q430*	ENST00000251390	NM_006865.3	430	Caa/Taa	0																																																																																																																																																																																																																																												
LILRA4	0	broad.mit.edu	GRCh37	19	54850352	54850352	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-26-6174-01	TCGA-26-6174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000291759.4:c.13C>G	p.Leu5Val	p.L5V	ENST00000291759	NM_012276.3	5	Ctc/Gtc	0			1			C	L/V	uc002qfj.2	protein_coding	YES	CCDS12890.1			13/1500									upper_aerodigestive_tract(1)|central_nervous_system(1)	2	c.(13-15)CTC>GTC			PIRSF_domain:PIRSF001979,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF98,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	leukocyte immunoglobulin-like receptor subfamily				ENSP00000291759		8-Jan									COSM3404593	8-Jan	.		ENST00000291759	Transcript				integral to membrane	receptor activity	ENSG00000239961	g.chr19:54850352G>C	15503			MODERATE		2.29	medium	getma.org/?cm=msa&ty=f&p=LIRA4_HUMAN&rb=1&re=57&var=L5V	NA	getma.org/?cm=var&var=hg19,19,54850352,G,C&fts=all	L5V	--	--	1																																		LILRA4_uc002qfi.2_5'UTR	1	1		benign(0.001)	p.L5V	NM_012276	NP_036408		deleterious(0.01)	1	LIRA4_HUMAN	LILRA4	HGNC	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)			1	70	-	Ovarian(34;0.19)		UPI0000202BCD	5					SNV	LILRA4,missense_variant,p.Leu5Val,ENST00000291759,NM_012276.3;AC008984.2,upstream_gene_variant,,ENST00000507363,;LILRA4,non_coding_transcript_exon_variant,,ENST00000421056,;LILRA4,upstream_gene_variant,,ENST00000595581,;	uc002qfj.2	c.13C>G	70/1944	3	3			c.13C>G						19	SNP	c.(13-15)CTC>GTC	15	15			upper_aerodigestive_tract(1)|central_nervous_system(1)	2	Broad	leukocyte immunoglobulin-like receptor subfamily			54850352		0.567	ENSG00000239961	8630	g.chr19:54850352G>C		integral to membrane	receptor activity							27.685632	KEEP	4	9	-1	35	26	4	9	-1	33.762358	35	26	0.177419	1	0	0	0	0	1	0	0	0	--	--		0	C			LILRA4_uc002qfi.2_5'UTR	188	GBM-26-6174-TP	p.L5V	G	AGGCTTGTGAGAATGAGGGTC	NM_012276	NP_036408	54850352	P59901	LIRA4_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0565)	1	70	-	C	C	Ovarian(34;0.19)		Missense_Mutation	5						
LILRA4	0	broad.mit.edu	GRCh37	19	54848149	54848149	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-41-2575-01	TCGA-41-2575-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000291759.4:c.1218G>C	p.Leu406=	p.L406=	ENST00000291759	NM_012276.3	406	ctG/ctC	0		G:0	1	G:0		G	L	uc002qfj.2	protein_coding	YES	CCDS12890.1			1218/1500									upper_aerodigestive_tract(1)|central_nervous_system(1)	2	c.(1216-1218)CTG>CTC			Gene3D:2.60.40.10,PIRSF_domain:PIRSF001979,PROSITE_profiles:PS50835,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF98,SMART_domains:SM00409,Superfamily_domains:SSF48726	leukocyte immunoglobulin-like receptor subfamily		G:0.001		ENSP00000291759	G:0	8-Jun									rs200134720,COSM3404592	8-Jun	.		ENST00000291759	Transcript		G:0.0002		integral to membrane	receptor activity	ENSG00000239961	g.chr19:54848149C>G	15503			LOW								--	--	1																																		LILRA4_uc002qfi.2_Silent_p.L340L	0,1	1			p.L406L	NM_012276	NP_036408	G:0		0,1	LIRA4_HUMAN	LILRA4	HGNC	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)			6	1275	-	Ovarian(34;0.19)		UPI0000202BCD	406			Ig-like C2-type 4.|Extracellular (Potential).		SNV	LILRA4,synonymous_variant,p.=,ENST00000291759,NM_012276.3;AC008984.2,non_coding_transcript_exon_variant,,ENST00000507363,;LILRA4,synonymous_variant,p.=,ENST00000595581,;LILRA4,downstream_gene_variant,,ENST00000421056,;	uc002qfj.2	c.1218G>C	1275/1944	4	4			c.1218G>C						19	SNP	c.(1216-1218)CTG>CTC	21	21			upper_aerodigestive_tract(1)|central_nervous_system(1)	2	Broad	leukocyte immunoglobulin-like receptor subfamily			54848149		0.592	ENSG00000239961	8630	g.chr19:54848149C>G		integral to membrane	receptor activity							157.26427	KEEP	26	17	-1	20	14	26	17	-1	157.877032	20	14	0.6	1	0	0	0	0	0	0	1	0	--	--		0	G			LILRA4_uc002qfi.2_Silent_p.L340L	253	GBM-41-2575-TP	p.L406L	C	TGGGGTGAGACAGCAGGTAGG	NM_012276	NP_036408	54848149	P59901	LIRA4_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0565)	6	1275	-	G	G	Ovarian(34;0.19)		Silent	406			Ig-like C2-type 4.|Extracellular (Potential).			
LILRA4	23547		GRCh37	19	54848923	54848923	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000291759.4:c.700G>A	p.Val234Met	p.V234M	ENST00000291759	NM_012276.3	234	Gtg/Atg	0																																																																																																																																																																																																																																												
LILRA5	0	broad.mit.edu	GRCh37	19	54823150	54823150	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-4210-01	TCGA-32-4210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000432233.3:c.393G>A	p.Leu131=	p.L131=	ENST00000432233	NM_181879.2	131	ctG/ctA	0			1			T	L	uc002qfe.2	protein_coding		CCDS46178.1			393/798									upper_aerodigestive_tract(1)	1	c.(391-393)CTG>CTA			Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF85,SMART_domains:SM00409,Superfamily_domains:SSF48726	leukocyte immunoglobulin-like receptor subfamily				ENSP00000404236		5-Apr									COSM3404588,COSM3404589	5-Apr	.		ENST00000432233	Transcript			innate immune response	extracellular region|integral to membrane	receptor activity	ENSG00000187116	g.chr19:54823150C>T	16309			LOW								--	--	1																																		LILRA5_uc002qff.2_Silent_p.L119L|LILRA5_uc010yev.1_Silent_p.L131L|LILRA5_uc010yew.1_Silent_p.L119L|LILRA5_uc002qfh.1_Silent_p.L119L|LILRA5_uc002qfg.1_Silent_p.L131L	1,1				p.L131L	NM_021250	NP_067073			1,1	LIRA5_HUMAN	LILRA5	HGNC	A6NI73	LIRA5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)			4	513	-	Ovarian(34;0.19)		UPI0000034C08	131			Extracellular (Potential).|Ig-like C2-type 1.		SNV	LILRA5,synonymous_variant,p.=,ENST00000301219,NM_021250.2;LILRA5,synonymous_variant,p.=,ENST00000346508,NM_181985.2;LILRA5,synonymous_variant,p.=,ENST00000446712,NM_181986.2;LILRA5,synonymous_variant,p.=,ENST00000432233,NM_181879.2;AC008984.2,intron_variant,,ENST00000507363,;LILRA5,non_coding_transcript_exon_variant,,ENST00000489504,;LILRA5,non_coding_transcript_exon_variant,,ENST00000486742,;LILRA5,upstream_gene_variant,,ENST00000477720,;	uc002qfe.2	c.393G>A	472/922	2	2			c.393G>A						19	SNP	c.(391-393)CTG>CTA	29	29			upper_aerodigestive_tract(1)	1	Broad	leukocyte immunoglobulin-like receptor subfamily			54823150		0.622	ENSG00000187116	8631	g.chr19:54823150C>T	innate immune response	extracellular region|integral to membrane	receptor activity							-43.145695	KEEP	1	2	-1	88	111	1	2	-1	6.460718	88	111	0.016043	1	0	0	0	0	0	0	1	0	--	--		0	T			LILRA5_uc002qff.2_Silent_p.L119L|LILRA5_uc010yev.1_Silent_p.L131L|LILRA5_uc010yew.1_Silent_p.L119L|LILRA5_uc002qfh.1_Silent_p.L119L|LILRA5_uc002qfg.1_Silent_p.L131L	245	GBM-32-4210-TP	p.L131L	C	CCACCAGCTCCAGGGGGTCGC	NM_021250	NP_067073	54823150	A6NI73	LIRA5_HUMAN	0		GBM - Glioblastoma multiforme(193;0.105)	4	513	-	T	T	Ovarian(34;0.19)		Silent	131			Extracellular (Potential).|Ig-like C2-type 1.			
LILRA5	353514		GRCh37	19	54823844	54823844	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000301219.3:c.51C>T	p.Asp17=	p.D17=	ENST00000301219	NM_021250.2	17	gaC/gaT	0																																																																																																																																																																																																																																												
LILRA5	353514		GRCh37	19	54822924	54822924	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000301219.3:c.472G>A	p.Val158Met	p.V158M	ENST00000301219	NM_021250.2	158	Gtg/Atg	0																																																																																																																																																																																																																																												
LILRA6	79168	broad.mit.edu	GRCh37	19	54746595	54746595	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396365.2:c.6G>A	p.Thr2=	p.T2=	ENST00000396365	NM_024318.2	2	acG/acA	0	T:0.0002		1			T	T	uc010erh.1	protein_coding	YES	CCDS42610.1			6/1446									skin(2)|ovary(1)	3	c.(4-6)ACG>ACA			Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,PIRSF_domain:PIRSF001979,hmmpanther:PTHR11738:SF99,hmmpanther:PTHR11738	leukocyte immunoglobulin-like receptor,			T:0.0001	ENSP00000379651		8-Jan	5.02E-05	0.000109	9.82E-05			6.46E-05			rs369456930,COSM2151523,COSM2151522	8-Jan	.		ENST00000396365	Transcript			cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	ENSG00000244482	g.chr19:54746595C>T	15495			LOW								--	--	1																																		LILRA6_uc002qew.1_Intron|LILRB3_uc002qeh.1_Silent_p.T2T|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Silent_p.T2T|LILRA6_uc002qek.1_Silent_p.T2T|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Silent_p.T2T|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Silent_p.T2T|LILRB3_uc002qep.1_Silent_p.T2T|LILRB3_uc002qeq.1_Silent_p.T2T|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Silent_p.T2T|LILRA6_uc010yep.1_Silent_p.T2T|LILRA6_uc010yeq.1_Silent_p.T2T|LILRA6_uc002qet.3_RNA|LILRA6_uc002qeu.1_Silent_p.T2T|LILRA6_uc002qev.1_5'Flank	0,1,1	1			p.T2T	NM_006864	NP_006855			0,1,1	LIRA6_HUMAN	LILRA6	HGNC	O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)			1	130	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		UPI000022A9CA	2					SNV	LILRA6,synonymous_variant,p.=,ENST00000440558,;LILRB3,synonymous_variant,p.=,ENST00000407860,;LILRA6,synonymous_variant,p.=,ENST00000419410,;LILRA6,synonymous_variant,p.=,ENST00000270464,;LILRA6,synonymous_variant,p.=,ENST00000391735,;LILRA6,synonymous_variant,p.=,ENST00000396365,NM_024318.2;LILRA6,synonymous_variant,p.=,ENST00000245621,;LILRA6,synonymous_variant,p.=,ENST00000430421,;LILRA6,non_coding_transcript_exon_variant,,ENST00000474697,;RPS9,intron_variant,,ENST00000448962,;AC010492.4,downstream_gene_variant,,ENST00000506567,;	uc010erh.1	c.6G>A	46/1890	2	2			c.6G>A						19	SNP	c.(4-6)ACG>ACA	27	27			skin(2)|ovary(1)	3	Broad	leukocyte immunoglobulin-like receptor,			54746595		0.647	ENSG00000244482	8635	g.chr19:54746595C>T	cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity							27.485587	KEEP	10	10	-1	33	20	10	10	-1	29.43391	33	20	0.294118	1	0	0	0	0	0	0	1	0	--	--		0	T			LILRA6_uc002qew.1_Intron|LILRB3_uc002qeh.1_Silent_p.T2T|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Silent_p.T2T|LILRA6_uc002qek.1_Silent_p.T2T|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Silent_p.T2T|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Silent_p.T2T|LILRB3_uc002qep.1_Silent_p.T2T|LILRB3_uc002qeq.1_Silent_p.T2T|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Silent_p.T2T|LILRA6_uc010yep.1_Silent_p.T2T|LILRA6_uc010yeq.1_Silent_p.T2T|LILRA6_uc002qet.3_RNA|LILRA6_uc002qeu.1_Silent_p.T2T|LILRA6_uc002qev.1_5'Flank	62	GBM-06-0649-TP	p.T2T	C	TGAGGGCGGGCGTCATGGCGT	NM_006864	NP_006855	54746595	O75022	LIRB3_HUMAN	0		GBM - Glioblastoma multiforme(193;0.105)	1	130	-	T	T	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		Silent	2						
LILRA6	0	broad.mit.edu	GRCh37	19	54744788	54744788	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5960-01	TCGA-19-5960-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396365.2:c.874G>A	p.Gly292Ser	p.G292S	ENST00000396365	NM_024318.2	292	Ggc/Agc	0			1			T	G/S	uc002qeu.1	protein_coding	YES	CCDS42610.1			874/1446									skin(2)	2	c.(874-876)GGC>AGC			Superfamily_domains:SSF48726,PIRSF_domain:PIRSF001979,SMART_domains:SM00409,SMART_domains:SM00408,Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR11738:SF99,hmmpanther:PTHR11738,PROSITE_profiles:PS50835	leukocyte immunoglobulin-like receptor,				ENSP00000379651		8-May	1.65E-05					1.50E-05		6.06E-05	rs773808359,COSM3404574	8-May	.		ENST00000396365	Transcript				integral to membrane	receptor activity	ENSG00000244482	g.chr19:54744788C>T	15495			MODERATE		4.03	high	getma.org/?cm=msa&ty=f&p=LIRA6_HUMAN&rb=224&re=317&var=G292S	getma.org/pdb.php?prot=LIRA6_HUMAN&from=224&to=317&var=G292S	getma.org/?cm=var&var=hg19,19,54744788,C,T&fts=all	G292S	--	--	1																																		LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Missense_Mutation_p.G292S|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Missense_Mutation_p.G292S|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.G292S|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.G292S|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Missense_Mutation_p.G292S|LILRA6_uc010yeq.1_Missense_Mutation_p.G292S|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Missense_Mutation_p.G153S	0,1	1		probably_damaging(0.998)	p.G292S	NM_024318	NP_077294		deleterious(0.01)	0,1	LIRA6_HUMAN	LILRA6	HGNC	Q6PI73	LIRA6_HUMAN		GBM - Glioblastoma multiforme(193;0.105)			5	998	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		UPI000022A9CA	292			Extracellular (Potential).|Ig-like C2-type 1.		SNV	LILRA6,missense_variant,p.Gly292Ser,ENST00000440558,;LILRA6,missense_variant,p.Gly292Ser,ENST00000419410,;LILRA6,missense_variant,p.Gly292Ser,ENST00000396365,NM_024318.2;LILRA6,missense_variant,p.Gly292Ser,ENST00000245621,;LILRA6,3_prime_UTR_variant,,ENST00000391735,;LILRB3,intron_variant,,ENST00000407860,;LILRA6,intron_variant,,ENST00000270464,;LILRA6,3_prime_UTR_variant,,ENST00000430421,;RPS9,intron_variant,,ENST00000448962,;LILRA6,downstream_gene_variant,,ENST00000474697,;	uc002qeu.1	c.874G>A	914/1890	2	2			c.874G>A						19	SNP	c.(874-876)GGC>AGC	34	34			skin(2)	2	Broad	leukocyte immunoglobulin-like receptor,			54744788		0.682	ENSG00000244482	8632	g.chr19:54744788C>T		integral to membrane	receptor activity							-15.839477	KEEP	2	3	-1	67	80	2	3	-1	10.606169	67	80	0.042373	1	0	0	0	0	1	0	0	0	--	--		0	T			LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Missense_Mutation_p.G292S|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Missense_Mutation_p.G292S|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.G292S|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.G292S|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Missense_Mutation_p.G292S|LILRA6_uc010yeq.1_Missense_Mutation_p.G292S|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Missense_Mutation_p.G153S	178	GBM-19-5960-TP	p.G292S	C	CTGTACTGGCCCCCGTGGGAG	NM_024318	NP_077294	54744788	Q6PI73	LIRA6_HUMAN	0		GBM - Glioblastoma multiforme(193;0.105)	5	998	-	T	T	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		Missense_Mutation	292			Extracellular (Potential).|Ig-like C2-type 1.			
LILRA6	0	broad.mit.edu	GRCh37	19	54744985	54744985	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-41-4097-01	TCGA-41-4097-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396365.2:c.677C>A	p.Ser226Tyr	p.S226Y	ENST00000396365	NM_024318.2	226	tCc/tAc	0			1			T	S/Y	uc002qeu.1	protein_coding	YES	CCDS42610.1			677/1446									skin(2)	2	c.(676-678)TCC>TAC			Superfamily_domains:SSF48726,PIRSF_domain:PIRSF001979,Gene3D:2.60.40.10,hmmpanther:PTHR11738:SF99,hmmpanther:PTHR11738,PROSITE_profiles:PS50835	leukocyte immunoglobulin-like receptor,				ENSP00000379651		8-May	8.24E-06				0.000182				rs749149674,COSM3404575	8-May	.		ENST00000396365	Transcript				integral to membrane	receptor activity	ENSG00000244482	g.chr19:54744985G>T	15495			MODERATE		4.195	high	getma.org/?cm=msa&ty=f&p=LIRA6_HUMAN&rb=224&re=317&var=S226Y	getma.org/pdb.php?prot=LIRA6_HUMAN&from=224&to=317&var=S226Y	getma.org/?cm=var&var=hg19,19,54744985,G,T&fts=all	S226Y	--	--	1																																		LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Missense_Mutation_p.S226Y|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Missense_Mutation_p.S226Y|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.S226Y|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.S226Y|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Missense_Mutation_p.S226Y|LILRA6_uc010yeq.1_Missense_Mutation_p.S226Y|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Missense_Mutation_p.S87Y	0,1	1		probably_damaging(0.998)	p.S226Y	NM_024318	NP_077294		deleterious(0)	0,1	LIRA6_HUMAN	LILRA6	HGNC	Q6PI73	LIRA6_HUMAN		GBM - Glioblastoma multiforme(193;0.105)			5	801	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		UPI000022A9CA	226			Extracellular (Potential).|Ig-like C2-type 1.		SNV	LILRA6,missense_variant,p.Ser226Tyr,ENST00000440558,;LILRA6,missense_variant,p.Ser226Tyr,ENST00000419410,;LILRA6,missense_variant,p.Ser226Tyr,ENST00000396365,NM_024318.2;LILRA6,missense_variant,p.Ser226Tyr,ENST00000245621,;LILRA6,3_prime_UTR_variant,,ENST00000391735,;LILRB3,intron_variant,,ENST00000407860,;LILRA6,intron_variant,,ENST00000270464,;LILRA6,3_prime_UTR_variant,,ENST00000430421,;LILRA6,non_coding_transcript_exon_variant,,ENST00000474697,;RPS9,intron_variant,,ENST00000448962,;AC010492.4,downstream_gene_variant,,ENST00000506567,;	uc002qeu.1	c.677C>A	717/1890	2	2			c.677C>A						19	SNP	c.(676-678)TCC>TAC	42	42			skin(2)	2	Broad	leukocyte immunoglobulin-like receptor,			54744985		0.632	ENSG00000244482	8632	g.chr19:54744985G>T		integral to membrane	receptor activity							-6.492525	KEEP	2	4	0.333333333	56	63	2	4	0.333333333	8.391641	56	63	0.065789	1	0	0	0	0	1	0	0	0	--	--		0	T			LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Missense_Mutation_p.S226Y|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Missense_Mutation_p.S226Y|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.S226Y|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.S226Y|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Missense_Mutation_p.S226Y|LILRA6_uc010yeq.1_Missense_Mutation_p.S226Y|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Missense_Mutation_p.S87Y	257	GBM-41-4097-TP	p.S226Y	G	GGTCAGGAGGGAGGGCTTCCT	NM_024318	NP_077294	54744985	Q6PI73	LIRA6_HUMAN	0		GBM - Glioblastoma multiforme(193;0.105)	5	801	-	T	T	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		Missense_Mutation	226			Extracellular (Potential).|Ig-like C2-type 1.			
LILRA6	79168		GRCh37	19	54744862	54744862	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000396365.2:c.800G>A	p.Arg267His	p.R267H	ENST00000396365	NM_024318.2	267	cGc/cAc	0																																																																																																																																																																																																																																												
LILRB1	10859	broad.mit.edu	GRCh37	19	55143186	55143186	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0192-01	TCGA-06-0192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324602.7:c.306C>T	p.Ser102=	p.S102=	ENST00000324602	NM_001278399.1	102	agC/agT	0	T:0.0098	T:0.0121	1	T:0		T	S	uc002qgj.2	protein_coding	YES	CCDS42614.1			306/1959									large_intestine(1)|ovary(1)|skin(1)	3	c.(304-306)AGC>AGT			Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	leukocyte immunoglobulin-like receptor,		T:0	T:0	ENSP00000315997	T:0	15-Apr	0.00117	0.0123	0.000864	0.000116		1.50E-05		0.000121	rs187037404,COSM3404601	15-Apr	common_variant		ENST00000324602	Transcript		T:0.0032	regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	ENSG00000104972	g.chr19:55143186C>T	6605			LOW								--	--	1				HNSCC(37;0.09)																														LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Silent_p.S102S|LILRB1_uc002qgk.2_Silent_p.S102S|LILRB1_uc002qgm.2_Silent_p.S102S|LILRB1_uc010erq.2_Silent_p.S102S|LILRB1_uc010err.2_RNA	0,1	1			p.S102S	NM_006669	NP_006660	T:0		0,1	LIRB1_HUMAN	LILRB1	HGNC	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)			5	646	+			UPI0000034BFC	102			Ig-like C2-type 1.|Extracellular (Potential).		SNV	LILRB1,synonymous_variant,p.=,ENST00000396331,NM_006669.5;LILRB1,synonymous_variant,p.=,ENST00000396327,NM_001081638.2,NM_001081639.2,NM_001278399.1;LILRB1,synonymous_variant,p.=,ENST00000324602,NM_001278399.1;LILRB1,synonymous_variant,p.=,ENST00000434867,;LILRB1,synonymous_variant,p.=,ENST00000396332,NM_001081637.1,NM_001278398.1;LILRB1,synonymous_variant,p.=,ENST00000427581,;LILRB1,synonymous_variant,p.=,ENST00000396315,;LILRB1,synonymous_variant,p.=,ENST00000396317,;LILRB1,synonymous_variant,p.=,ENST00000396321,;LILRB1,synonymous_variant,p.=,ENST00000418536,;LILRB1,synonymous_variant,p.=,ENST00000448689,;AC009892.10,downstream_gene_variant,,ENST00000456337,;AC009892.1,upstream_gene_variant,,ENST00000578908,;LILRB1,non_coding_transcript_exon_variant,,ENST00000480257,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,synonymous_variant,p.=,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,;	uc002qgj.2	c.306C>T	531/2834	1	1			c.306C>T						19	SNP	c.(304-306)AGC>AGT	5	5			large_intestine(1)|ovary(1)|skin(1)	3	Broad	leukocyte immunoglobulin-like receptor,			55143186		0.602	ENSG00000104972	8633	g.chr19:55143186C>T	regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity							-20.750835	KEEP	5	4	-1	100	97	5	4	-1	17.337609	100	97	0.050562	1	0	0	0	0	0	0	1	0	--	--	HNSCC(37;0.09)	0	T			LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Silent_p.S102S|LILRB1_uc002qgk.2_Silent_p.S102S|LILRB1_uc002qgm.2_Silent_p.S102S|LILRB1_uc010erq.2_Silent_p.S102S|LILRB1_uc010err.2_RNA	44	GBM-06-0192-TP	p.S102S	C	ACTATGGTAGCGACACTGCAG	NM_006669	NP_006660	55143186	Q8NHL6	LIRB1_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0188)	5	646	+	T	T			Silent	102			Ig-like C2-type 1.|Extracellular (Potential).			
LILRB1	0	broad.mit.edu	GRCh37	19	55144009	55144009	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-32-2491-01	TCGA-32-2491-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324602.7:c.756C>A	p.Tyr252Ter	p.Y252*	ENST00000324602	NM_001278399.1	252	taC/taA	0			1			A	Y/*	uc002qgj.2	protein_coding	YES	CCDS42614.1			756/1959									large_intestine(1)|ovary(1)|skin(1)	3	c.(754-756)TAC>TAA			Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	leukocyte immunoglobulin-like receptor,				ENSP00000315997		15-Jun									COSM3748069	15-Jun	.		ENST00000324602	Transcript			regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	ENSG00000104972	g.chr19:55144009C>A	6605			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,19,55144009,C,A&fts=all	Y252*	--	--	1				HNSCC(37;0.09)																														LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Nonsense_Mutation_p.Y252*|LILRB1_uc002qgk.2_Nonsense_Mutation_p.Y252*|LILRB1_uc002qgm.2_Nonsense_Mutation_p.Y252*|LILRB1_uc010erq.2_Nonsense_Mutation_p.Y252*|LILRB1_uc010err.2_RNA	1	1			p.Y252*	NM_006669	NP_006660			1	LIRB1_HUMAN	LILRB1	HGNC	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)			7	1096	+			UPI0000034BFC	252			Ig-like C2-type 3.|Extracellular (Potential).		SNV	LILRB1,stop_gained,p.Tyr252Ter,ENST00000396331,NM_006669.5;LILRB1,stop_gained,p.Tyr252Ter,ENST00000396327,NM_001081638.2,NM_001081639.2,NM_001278399.1;LILRB1,stop_gained,p.Tyr252Ter,ENST00000324602,NM_001278399.1;LILRB1,stop_gained,p.Tyr252Ter,ENST00000434867,;LILRB1,stop_gained,p.Tyr252Ter,ENST00000396332,NM_001081637.1,NM_001278398.1;LILRB1,stop_gained,p.Tyr288Ter,ENST00000427581,;LILRB1,stop_gained,p.Tyr252Ter,ENST00000396315,;LILRB1,stop_gained,p.Tyr252Ter,ENST00000396317,;LILRB1,stop_gained,p.Tyr252Ter,ENST00000396321,;LILRB1,stop_gained,p.Tyr252Ter,ENST00000418536,;LILRB1,stop_gained,p.Tyr252Ter,ENST00000448689,;AC009892.10,downstream_gene_variant,,ENST00000456337,;AC009892.1,upstream_gene_variant,,ENST00000578908,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,stop_gained,p.Tyr252Ter,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,;	uc002qgj.2	c.756C>A	981/2834	5	2			c.756C>A						19	SNP	c.(754-756)TAC>TAA	48	48			large_intestine(1)|ovary(1)|skin(1)	3	Broad	leukocyte immunoglobulin-like receptor,			55144009		0.587	ENSG00000104972	8633	g.chr19:55144009C>A	regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity							-14.067649	KEEP	5	5	0.5	47	63	5	5	0.5	6.702848	47	63	0.059406	1	0	0	0	0	0	1	0	0	--	--	HNSCC(37;0.09)	0	A			LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Nonsense_Mutation_p.Y252*|LILRB1_uc002qgk.2_Nonsense_Mutation_p.Y252*|LILRB1_uc002qgm.2_Nonsense_Mutation_p.Y252*|LILRB1_uc010erq.2_Nonsense_Mutation_p.Y252*|LILRB1_uc010err.2_RNA	235	GBM-32-2491-TP	p.Y252*	C	ATGCTGGCTACAACAGATTTG	NM_006669	NP_006660	55144009	Q8NHL6	LIRB1_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0188)	7	1096	+	A	A			Nonsense_Mutation	252			Ig-like C2-type 3.|Extracellular (Potential).			
LILRB1	0	broad.mit.edu	GRCh37	19	55147969	55147969	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-2632-01	TCGA-32-2632-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324602.7:c.1678C>A	p.Gln560Lys	p.Q560K	ENST00000324602	NM_001278399.1	560	Cag/Aag	0			1			A	Q/K	uc002qgj.2	protein_coding	YES	CCDS42614.1			1678/1959									large_intestine(1)|ovary(1)|skin(1)	3	c.(1672-1674)CAG>AAG			hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89	leukocyte immunoglobulin-like receptor,				ENSP00000315997		14/15									COSM3404603	14/15	.		ENST00000324602	Transcript			regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	ENSG00000104972	g.chr19:55147969C>A	6605			MODERATE		2.785	medium	getma.org/?cm=msa&ty=f&p=LIRB1_HUMAN&rb=402&re=601&var=Q558K	NA	getma.org/?cm=var&var=hg19,19,55147969,C,A&fts=all	Q558K	--	--	1				HNSCC(37;0.09)																														LILRB1_uc010erp.1_3'UTR|LILRB1_uc002qgl.2_Missense_Mutation_p.Q559K|LILRB1_uc002qgk.2_Missense_Mutation_p.Q559K|LILRB1_uc002qgm.2_Missense_Mutation_p.Q560K|LILRB1_uc010erq.2_Missense_Mutation_p.Q542K|LILRB1_uc010err.2_RNA	1	1		benign(0.257)	p.Q558K	NM_006669	NP_006660		deleterious(0)	1	LIRB1_HUMAN	LILRB1	HGNC	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)			15	2012	+			UPI0000034BFC	558			Cytoplasmic (Potential).		SNV	LILRB1,missense_variant,p.Gln558Lys,ENST00000396331,NM_006669.5;LILRB1,missense_variant,p.Gln559Lys,ENST00000396327,NM_001081638.2,NM_001081639.2,NM_001278399.1;LILRB1,missense_variant,p.Gln560Lys,ENST00000324602,NM_001278399.1;LILRB1,missense_variant,p.Gln558Lys,ENST00000434867,;LILRB1,missense_variant,p.Gln559Lys,ENST00000396332,NM_001081637.1,NM_001278398.1;LILRB1,missense_variant,p.Gln609Lys,ENST00000427581,;LILRB1,missense_variant,p.Gln560Lys,ENST00000396315,;LILRB1,missense_variant,p.Gln542Lys,ENST00000396317,;LILRB1,missense_variant,p.Gln558Lys,ENST00000396321,;LILRB1,missense_variant,p.Gln542Lys,ENST00000418536,;LILRB1,3_prime_UTR_variant,,ENST00000448689,;AC009892.10,intron_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000462628,;LILRB1,downstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,3_prime_UTR_variant,,ENST00000421584,;LILRB1,downstream_gene_variant,,ENST00000480375,;LILRB1,downstream_gene_variant,,ENST00000487425,;	uc002qgj.2	c.1672C>A	1903/2834	1	1			c.1672C>A						19	SNP	c.(1672-1674)CAG>AAG	56	56			large_intestine(1)|ovary(1)|skin(1)	3	Broad	leukocyte immunoglobulin-like receptor,			55147969		0.572	ENSG00000104972	8633	g.chr19:55147969C>A	regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity							11.551928	KEEP	2	9	0.818181818	36	45	2	9	0.818181818	20.589503	36	45	0.123077	1	0	0	0	0	1	0	0	0	--	--	HNSCC(37;0.09)	0	A			LILRB1_uc010erp.1_3'UTR|LILRB1_uc002qgl.2_Missense_Mutation_p.Q559K|LILRB1_uc002qgk.2_Missense_Mutation_p.Q559K|LILRB1_uc002qgm.2_Missense_Mutation_p.Q560K|LILRB1_uc010erq.2_Missense_Mutation_p.Q542K|LILRB1_uc010err.2_RNA	240	GBM-32-2632-TP	p.Q558K	C	TGAAGACCCCCAGGCAGTGAC	NM_006669	NP_006660	55147969	Q8NHL6	LIRB1_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0188)	15	2012	+	A	A			Missense_Mutation	558			Cytoplasmic (Potential).			
LILRB2	0	broad.mit.edu	GRCh37	19	54782762	54782762	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-14-1829-01	TCGA-14-1829-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000391749.4:c.860G>C	p.Ser287Thr	p.S287T	ENST00000391749	NM_001278406.1	287	aGc/aCc	0			1			G	S/T	uc002qfb.2	protein_coding	YES	CCDS12886.1			860/1797									skin(1)	1	c.(859-861)AGC>ACC			Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF92,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	leukocyte immunoglobulin-like receptor,				ENSP00000375629		14-Jun									COSM3404583	14-Jun	.		ENST00000391749	Transcript			cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	ENSG00000131042	g.chr19:54782762C>G	6606			MODERATE		0.525	neutral	getma.org/?cm=msa&ty=f&p=LIRB2_HUMAN&rb=224&re=317&var=S287T	getma.org/pdb.php?prot=LIRB2_HUMAN&from=224&to=317&var=S287T	getma.org/?cm=var&var=hg19,19,54782762,C,G&fts=all	S287T	--	--	1																																		LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.S287T|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.S287T|LILRB2_uc010yet.1_Missense_Mutation_p.S171T|LILRB2_uc010yeu.1_RNA	1	1		possibly_damaging(0.74)	p.S287T	NM_005874	NP_005865		tolerated(0.1)	1	LIRB2_HUMAN	LILRB2	HGNC	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	C9JF29_HUMAN		6	1126	-	Ovarian(34;0.19)		UPI00000707E4	287			Extracellular (Potential).|Ig-like C2-type 3.		SNV	LILRB2,missense_variant,p.Ser287Thr,ENST00000391748,NM_001278403.1;LILRB2,missense_variant,p.Ser287Thr,ENST00000314446,NM_001080978.2,NM_005874.3;LILRB2,missense_variant,p.Ser287Thr,ENST00000391749,NM_001278406.1;LILRB2,missense_variant,p.Ser171Thr,ENST00000434421,NM_001278404.1;LILRB2,missense_variant,p.Ser287Thr,ENST00000391746,NM_001278405.1;MIR4752,upstream_gene_variant,,ENST00000579672,;LILRB2,downstream_gene_variant,,ENST00000471216,;LILRB2,non_coding_transcript_exon_variant,,ENST00000493242,;LILRB2,upstream_gene_variant,,ENST00000455108,;	uc002qfb.2	c.860G>C	1132/2286	4	4			c.860G>C						19	SNP	c.(859-861)AGC>ACC	21	21			skin(1)	1	Broad	leukocyte immunoglobulin-like receptor,			54782762		0.647	ENSG00000131042	8634	g.chr19:54782762C>G	cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity							7.295977	KEEP	10	2	-1	62	61	10	2	-1	26.012044	62	61	0.101695	1	0	0	0	0	1	0	0	0	--	--		0	G			LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.S287T|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.S287T|LILRB2_uc010yet.1_Missense_Mutation_p.S171T|LILRB2_uc010yeu.1_RNA	149	GBM-14-1829-TP	p.S287T	C	GTAGGAGCGGCTCACAGGGCC	NM_005874	NP_005865	54782762	Q8N423	LIRB2_HUMAN	0		GBM - Glioblastoma multiforme(193;0.105)	6	1126	-	G	G	Ovarian(34;0.19)		Missense_Mutation	287			Extracellular (Potential).|Ig-like C2-type 3.			
LILRB2	0	broad.mit.edu	GRCh37	19	54783717	54783717	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs145209585	byFrequency	TCGA-32-4209-01	TCGA-32-4209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000391749.4:c.284G>A	p.Arg95Gln	p.R95Q	ENST00000391749	NM_001278406.1	95	cGa/cAa	0	T:0.0005		1			T	R/Q	uc002qfb.2	protein_coding	YES	CCDS12886.1			284/1797									skin(1)	1	c.(283-285)CGA>CAA			Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF92,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	leukocyte immunoglobulin-like receptor,			T:0	ENSP00000375629		14-Apr	2.47E-05	9.61E-05	8.64E-05			1.50E-05			rs145209585,COSM2930198	14-Apr	.		ENST00000391749	Transcript			cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	ENSG00000131042	g.chr19:54783717C>T	6606			MODERATE		0.675	neutral	getma.org/?cm=msa&ty=f&p=LIRB2_HUMAN&rb=28&re=117&var=R95Q	getma.org/pdb.php?prot=LIRB2_HUMAN&from=28&to=117&var=R95Q	getma.org/?cm=var&var=hg19,19,54783717,C,T&fts=all	R95Q	--	--	1																																		LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.R95Q|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.R95Q|LILRB2_uc010yet.1_5'UTR|LILRB2_uc010yeu.1_RNA	0,1	1		benign(0.031)	p.R95Q	NM_005874	NP_005865		tolerated(0.3)	0,1	LIRB2_HUMAN	LILRB2	HGNC	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	C9JF29_HUMAN		4	550	-	Ovarian(34;0.19)		UPI00000707E4	95			Extracellular (Potential).|Ig-like C2-type 1.		SNV	LILRB2,missense_variant,p.Arg95Gln,ENST00000391748,NM_001278403.1;LILRB2,missense_variant,p.Arg95Gln,ENST00000314446,NM_001080978.2,NM_005874.3;LILRB2,missense_variant,p.Arg95Gln,ENST00000391749,NM_001278406.1;LILRB2,missense_variant,p.Arg95Gln,ENST00000391746,NM_001278405.1;LILRB2,5_prime_UTR_variant,,ENST00000434421,NM_001278404.1;MIR4752,upstream_gene_variant,,ENST00000579672,;LILRB2,non_coding_transcript_exon_variant,,ENST00000471216,;LILRB2,non_coding_transcript_exon_variant,,ENST00000493242,;LILRB2,upstream_gene_variant,,ENST00000455108,;	uc002qfb.2	c.284G>A	556/2286	2	2			c.284G>A						19	SNP	c.(283-285)CGA>CAA	27	27			skin(1)	1	Broad	leukocyte immunoglobulin-like receptor,			54783717		0.557	ENSG00000131042	8634	g.chr19:54783717C>T	cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity							319.238185	KEEP	75	72	-1	164	183	75	72	-1	334.494419	164	183	0.297101	1	0	0	0	0	1	0	0	0	--	--		0	T			LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.R95Q|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.R95Q|LILRB2_uc010yet.1_5'UTR|LILRB2_uc010yeu.1_RNA	244	GBM-32-4209-TP	p.R95Q	C	ACAGCCATATCGCCCTGTGTG	NM_005874	NP_005865	54783717	Q8N423	LIRB2_HUMAN	0		GBM - Glioblastoma multiforme(193;0.105)	4	550	-	T	T	Ovarian(34;0.19)		Missense_Mutation	95			Extracellular (Potential).|Ig-like C2-type 1.			
LILRB2	0	broad.mit.edu	GRCh37	19	54784355	54784355	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A			TCGA-41-2572-01	TCGA-41-2572-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000391749.4:c.-4C>T		*2*	ENST00000391749	NM_001278406.1			0	A:0		1			A		uc002qfb.2	protein_coding	YES	CCDS12886.1			-/1797									skin(1)	1	c.(-5--1)GACGC>GATGC				leukocyte immunoglobulin-like receptor,			A:0.0001	ENSP00000375629		14-Feb	2.47E-05			0.000116		3.00E-05			rs368747484	14-Feb	.		ENST00000391749	Transcript			cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	ENSG00000131042	g.chr19:54784355G>A	6606			MODIFIER								--	--	1																																		LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Translation_Start_Site|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Translation_Start_Site|LILRB2_uc010yet.1_Translation_Start_Site|LILRB2_uc010yeu.1_RNA		1				NM_005874	NP_005865				LIRB2_HUMAN	LILRB2	HGNC	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	C9JF29_HUMAN		2	263	-	Ovarian(34;0.19)		UPI00000707E4						SNV	LILRB2,5_prime_UTR_variant,,ENST00000391748,NM_001278403.1;LILRB2,5_prime_UTR_variant,,ENST00000314446,NM_001080978.2,NM_005874.3;LILRB2,5_prime_UTR_variant,,ENST00000391749,NM_001278406.1;LILRB2,5_prime_UTR_variant,,ENST00000434421,NM_001278404.1;LILRB2,upstream_gene_variant,,ENST00000391746,NM_001278405.1;MIR4752,upstream_gene_variant,,ENST00000579672,;LILRB2,upstream_gene_variant,,ENST00000471216,;LILRB2,non_coding_transcript_exon_variant,,ENST00000493242,;LILRB2,upstream_gene_variant,,ENST00000455108,;	uc002qfb.2	c.-3C>T	269/2286	2	2			c.-3C>T						19	SNP	c.(-5--1)GACGC>GATGC	26	26			skin(1)	1	Broad	leukocyte immunoglobulin-like receptor,			54784355		0.592	ENSG00000131042	8634	g.chr19:54784355G>A	cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity							148.881879	KEEP	49	37	-1	154	144	49	37	-1	171.345044	154	144	0.219355	1	0	0	0	0	0	0	0	0	--	--		0	A			LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Translation_Start_Site|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Translation_Start_Site|LILRB2_uc010yet.1_Translation_Start_Site|LILRB2_uc010yeu.1_RNA	251	GBM-41-2572-TP		G	GGGTCATGGCGTCTCCTCCCA	NM_005874	NP_005865	54784355	Q8N423	LIRB2_HUMAN	0		GBM - Glioblastoma multiforme(193;0.105)	2	263	-	A	A	Ovarian(34;0.19)		Translation_Start_Site							
LILRB2	0	broad.mit.edu	GRCh37	19	54782295	54782295	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000391749.4:c.1077G>A	p.Ala359=	p.A359=	ENST00000391749	NM_001278406.1	359	gcG/gcA	0			1			T	A	uc002qfb.2	protein_coding	YES	CCDS12886.1			1077/1797									skin(1)	1	c.(1075-1077)GCG>GCA			Gene3D:2.60.40.10,Pfam_domain:PF13927,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF92,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	leukocyte immunoglobulin-like receptor,				ENSP00000375629		14-Jul	4.12E-05	9.61E-05				5.99E-05			rs780207679,COSM3404581	14-Jul	.		ENST00000391749	Transcript			cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	ENSG00000131042	g.chr19:54782295C>T	6606			LOW								--	--	1																																		LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Silent_p.A359A|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Silent_p.A359A|LILRB2_uc010yet.1_Silent_p.A243A|LILRB2_uc010yeu.1_RNA	0,1	1			p.A359A	NM_005874	NP_005865			0,1	LIRB2_HUMAN	LILRB2	HGNC	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	C9JF29_HUMAN		7	1343	-	Ovarian(34;0.19)		UPI00000707E4	359			Extracellular (Potential).|Ig-like C2-type 4.		SNV	LILRB2,synonymous_variant,p.=,ENST00000391748,NM_001278403.1;LILRB2,synonymous_variant,p.=,ENST00000314446,NM_001080978.2,NM_005874.3;LILRB2,synonymous_variant,p.=,ENST00000391749,NM_001278406.1;LILRB2,synonymous_variant,p.=,ENST00000434421,NM_001278404.1;LILRB2,synonymous_variant,p.=,ENST00000391746,NM_001278405.1;MIR4752,upstream_gene_variant,,ENST00000579672,;LILRB2,downstream_gene_variant,,ENST00000471216,;LILRB2,synonymous_variant,p.=,ENST00000455108,;LILRB2,non_coding_transcript_exon_variant,,ENST00000493242,;	uc002qfb.2	c.1077G>A	1349/2286	2	2			c.1077G>A						19	SNP	c.(1075-1077)GCG>GCA	24	24			skin(1)	1	Broad	leukocyte immunoglobulin-like receptor,			54782295		0.572	ENSG00000131042	8634	g.chr19:54782295C>T	cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity							158.859987	KEEP	31	30	-1	56	41	31	30	-1	160.419357	56	41	0.388889	1	0	0	0	0	0	0	1	0	--	--		0	T			LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Silent_p.A359A|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Silent_p.A359A|LILRB2_uc010yet.1_Silent_p.A243A|LILRB2_uc010yeu.1_RNA	271	GBM-76-4932-TP	p.A359A	C	CAGCTGCTCCCGCCTTGGTCA	NM_005874	NP_005865	54782295	Q8N423	LIRB2_HUMAN	0		GBM - Glioblastoma multiforme(193;0.105)	7	1343	-	T	T	Ovarian(34;0.19)		Silent	359			Extracellular (Potential).|Ig-like C2-type 4.			
LILRB2	10288		GRCh37	19	54782692	54782692	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000391749.4:c.930C>T	p.Ser310=	p.S310=	ENST00000391749	NM_001278406.1	310	agC/agT	0																																																																																																																																																																																																																																												
LILRB3	0	broad.mit.edu	GRCh37	19	54724484	54724484	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01	TCGA-28-2509-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245620.9:c.1172C>T	p.Ala391Val	p.A391V	ENST00000245620		391	gCg/gTg	0			1			A	A/V	uc002qef.1	protein_coding	YES	CCDS46175.1			1172/1899									skin(2)|ovary(1)	3	c.(1171-1173)GCG>GTG			hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF32,Gene3D:2.60.40.10,Pfam_domain:PF13927,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	leukocyte immunoglobulin-like receptor,				ENSP00000245620		13-Jun	2.56E-05	0.000108				3.89E-05			rs762176596,COSM3404572	13-Jun	.		ENST00000245620	Transcript			cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	ENSG00000204577	g.chr19:54724484G>A	6607			MODERATE		2.085	medium	getma.org/?cm=msa&ty=f&p=LIRB3_HUMAN&rb=324&re=401&var=A391V	getma.org/pdb.php?prot=LIRB3_HUMAN&from=324&to=401&var=A391V	getma.org/?cm=var&var=hg19,19,54724484,G,A&fts=all	A391V	--	--	1																																		LILRB3_uc002qee.1_Missense_Mutation_p.A391V|LILRB3_uc002qeh.1_Missense_Mutation_p.A391V|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Missense_Mutation_p.A391V|LILRA6_uc002qek.1_Intron|LILRB3_uc010erh.1_Missense_Mutation_p.A391V|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Intron|LILRA6_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Missense_Mutation_p.A391V|LILRB3_uc002qep.1_Missense_Mutation_p.A391V|LILRB3_uc002qeq.1_Missense_Mutation_p.A391V|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Missense_Mutation_p.A391V|LILRA6_uc010yep.1_Intron|LILRA6_uc010yeq.1_Intron	0,1	1		benign(0.024)	p.A391V	NM_006864	NP_006855		deleterious(0.03)	0,1	LIRB3_HUMAN	LILRB3	HGNC	O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	C9JWL8_HUMAN		6	1283	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		UPI0000E04BFA	391			Extracellular (Potential).|Ig-like C2-type 4.		SNV	LILRB3,missense_variant,p.Ala391Val,ENST00000391750,;LILRB3,missense_variant,p.Ala391Val,ENST00000424807,NM_006864.2,NM_001081450.1;LILRB3,missense_variant,p.Ala391Val,ENST00000346401,;LILRA6,missense_variant,p.Ala391Val,ENST00000440558,;LILRB3,missense_variant,p.Ala391Val,ENST00000407860,;LILRA6,missense_variant,p.Ala391Val,ENST00000270464,;LILRB3,missense_variant,p.Ala391Val,ENST00000245620,;LILRA6,intron_variant,,ENST00000419410,;LILRA6,intron_variant,,ENST00000391735,;LILRB3,downstream_gene_variant,,ENST00000445347,;CTB-83J4.1,upstream_gene_variant,,ENST00000601161,;LILRB3,non_coding_transcript_exon_variant,,ENST00000469273,;LILRB3,3_prime_UTR_variant,,ENST00000414379,;RPS9,intron_variant,,ENST00000448962,;LILRB3,downstream_gene_variant,,ENST00000468668,;LILRB3,upstream_gene_variant,,ENST00000460208,;LILRB3,upstream_gene_variant,,ENST00000436504,;	uc002qef.1	c.1172C>T	1174/2066	1	1			c.1172C>T						19	SNP	c.(1171-1173)GCG>GTG	51	51			skin(2)|ovary(1)	3	Broad	leukocyte immunoglobulin-like receptor,			54724484		0.607	ENSG00000204577	8635	g.chr19:54724484G>A	cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity							12.402336	KEEP	13	12	-1	60	80	13	12	-1	24.116751	60	80	0.120482	1	0	0	0	0	1	0	0	0	--	--		0	A			LILRB3_uc002qee.1_Missense_Mutation_p.A391V|LILRB3_uc002qeh.1_Missense_Mutation_p.A391V|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Missense_Mutation_p.A391V|LILRA6_uc002qek.1_Intron|LILRB3_uc010erh.1_Missense_Mutation_p.A391V|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Intron|LILRA6_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Missense_Mutation_p.A391V|LILRB3_uc002qep.1_Missense_Mutation_p.A391V|LILRB3_uc002qeq.1_Missense_Mutation_p.A391V|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Missense_Mutation_p.A391V|LILRA6_uc010yep.1_Intron|LILRA6_uc010yeq.1_Intron	211	GBM-28-2509-TP	p.A391V	G	GTAGGTCCCCGCGTGGGCTGA	NM_006864	NP_006855	54724484	O75022	LIRB3_HUMAN	0		GBM - Glioblastoma multiforme(193;0.105)	6	1283	-	A	A	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		Missense_Mutation	391			Extracellular (Potential).|Ig-like C2-type 4.			
LILRB4	11006	broad.mit.edu	GRCh37	19	55175475	55175475	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0171-01	TCGA-06-0171-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000391736.1:c.334C>A	p.Pro112Thr	p.P112T	ENST00000391736	NM_001278430.2	112	Ccc/Acc	0			1			A	P/T	uc002qgp.2	protein_coding	YES	CCDS12902.1			334/1347									ovary(3)	3	c.(334-336)CCC>ACC			Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF30,Superfamily_domains:SSF48726	leukocyte immunoglobulin-like receptor,				ENSP00000375616		14-May									COSM3404604	14-May	.		ENST00000391736	Transcript				integral to membrane|plasma membrane	antigen binding|receptor activity	ENSG00000186818	g.chr19:55175475C>A	6608			MODERATE		2.5	medium	getma.org/?cm=msa&ty=f&p=LIRB4_HUMAN&rb=28&re=117&var=P112T	getma.org/pdb.php?prot=LIRB4_HUMAN&from=28&to=117&var=P112T	getma.org/?cm=var&var=hg19,19,55175475,C,A&fts=all	P112T	--	--	1																																		LILRB4_uc002qgo.1_Missense_Mutation_p.P153T|LILRB4_uc002qgq.2_Missense_Mutation_p.P112T|LILRB4_uc010ers.1_Missense_Mutation_p.P25T|LILRB4_uc002qgr.2_Missense_Mutation_p.P153T|LILRB4_uc010ert.2_Missense_Mutation_p.P153T|LILRB4_uc010eru.2_Missense_Mutation_p.P141T	1	1		possibly_damaging(0.623)	p.P112T	NM_006847	NP_006838		deleterious(0)	1	LIRB4_HUMAN	LILRB4	HGNC	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)			3	696	+			UPI000013D889	112			Ig-like C2-type 1.|Extracellular (Potential).		SNV	LILRB4,missense_variant,p.Pro112Thr,ENST00000391736,NM_001278430.2;LILRB4,missense_variant,p.Pro112Thr,ENST00000270452,NM_001278428.2,NM_001278426.2,NM_001278427.2,NM_001278429.2,NM_001278430.2;LILRB4,missense_variant,p.Pro112Thr,ENST00000430952,;LILRB4,missense_variant,p.Pro112Thr,ENST00000391733,;LILRB4,missense_variant,p.Pro112Thr,ENST00000391734,;LILRB4,missense_variant,p.Pro112Thr,ENST00000434286,;LILRB4,non_coding_transcript_exon_variant,,ENST00000494796,;LILRB4,upstream_gene_variant,,ENST00000461262,;LILRB4,upstream_gene_variant,,ENST00000470943,;	uc002qgp.2	c.334C>A	649/4002	2	2			c.334C>A						19	SNP	c.(334-336)CCC>ACC	43	43			ovary(3)	3	Broad	leukocyte immunoglobulin-like receptor,			55175475		0.602	ENSG00000186818	8636	g.chr19:55175475C>A		integral to membrane|plasma membrane	antigen binding|receptor activity							-1.683299	KEEP	7	10	0.588235294	105	102	7	10	0.588235294	32.791671	105	102	0.085859	1	0	0	0	0	1	0	0	0	--	--		0	A			LILRB4_uc002qgo.1_Missense_Mutation_p.P153T|LILRB4_uc002qgq.2_Missense_Mutation_p.P112T|LILRB4_uc010ers.1_Missense_Mutation_p.P25T|LILRB4_uc002qgr.2_Missense_Mutation_p.P153T|LILRB4_uc010ert.2_Missense_Mutation_p.P153T|LILRB4_uc010eru.2_Missense_Mutation_p.P141T	35	GBM-06-0171-TP	p.P112T	C	GCCCAGTGACCCCCTGGAGCT	NM_006847	NP_006838	55175475	Q8NHJ6	LIRB4_HUMAN	0		GBM - Glioblastoma multiforme(193;0.035)	3	696	+	A	A			Missense_Mutation	112			Ig-like C2-type 1.|Extracellular (Potential).			
LILRB5	10990	broad.mit.edu	GRCh37	19	54756388	54756388	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0173-01	TCGA-06-0173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449561.2:c.1499C>A	p.Ala500Asp	p.A500D	ENST00000449561		500	gCt/gAt	0			1			T	A/D	uc002qex.2	protein_coding	YES	CCDS46176.1			1499/1776									ovary(1)|pancreas(1)	2	c.(1495-1497)GCT>GAT			hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF85	leukocyte immunoglobulin-like receptor,				ENSP00000406478		13-Oct									COSM3404576,COSM3404577	13-Oct	.		ENST00000449561	Transcript			cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	ENSG00000105609	g.chr19:54756388G>T	6609			MODERATE		2.565	medium	getma.org/?cm=msa&ty=f&p=LIRB5_HUMAN&rb=400&re=590&var=A499D	NA	getma.org/?cm=var&var=hg19,19,54756388,G,T&fts=all	A499D	--	--	1																																		LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.A491D|LILRB5_uc002qey.2_Missense_Mutation_p.A500D|LILRB5_uc002qez.2_Missense_Mutation_p.A400D|LILRB5_uc002qfa.1_3'UTR	1,1	1		possibly_damaging(0.66)	p.A499D	NM_006840	NP_006831		deleterious(0.04)	1,1	LIRB5_HUMAN	LILRB5	HGNC	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)			10	1607	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		UPI0000202BB5	499			Cytoplasmic (Potential).		SNV	LILRB5,missense_variant,p.Ala491Asp,ENST00000450632,;LILRB5,missense_variant,p.Ala499Asp,ENST00000316219,NM_001081442.1,NM_006840.3;LILRB5,missense_variant,p.Ala500Asp,ENST00000449561,;LILRB5,missense_variant,p.Ala400Asp,ENST00000345866,NM_001081443.1;CTD-2337J16.1,upstream_gene_variant,,ENST00000595133,;LILRB5,non_coding_transcript_exon_variant,,ENST00000463460,;LILRB5,non_coding_transcript_exon_variant,,ENST00000466581,;RPS9,downstream_gene_variant,,ENST00000448962,;	uc002qex.2	c.1496C>A	1570/2137	2	2			c.1496C>A						19	SNP	c.(1495-1497)GCT>GAT	25	25			ovary(1)|pancreas(1)	2	Broad	leukocyte immunoglobulin-like receptor,			54756388		0.607	ENSG00000105609	8637	g.chr19:54756388G>T	cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity							-1.012183	KEEP	9	5	0.642857143	85	78	9	5	0.642857143	24.957918	85	78	0.082192	1	0	0	0	0	1	0	0	0	--	--		0	T			LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.A491D|LILRB5_uc002qey.2_Missense_Mutation_p.A500D|LILRB5_uc002qez.2_Missense_Mutation_p.A400D|LILRB5_uc002qfa.1_3'UTR	36	GBM-06-0173-TP	p.A499D	G	TGGCCCCGCAGCCCCTGCAGG	NM_006840	NP_006831	54756388	O75023	LIRB5_HUMAN	0		GBM - Glioblastoma multiforme(193;0.105)	10	1607	-	T	T	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		Missense_Mutation	499			Cytoplasmic (Potential).			
LILRB5	10990	broad.mit.edu	GRCh37	19	54759940	54759940	+	synonymous_variant	Silent	SNP	C	C	T	rs144716655		TCGA-06-0211-01	TCGA-06-0211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449561.2:c.621G>A	p.Ser207=	p.S207=	ENST00000449561		207	tcG/tcA	0	T:0.0005	T:0.0023	1	T:0		T	S	uc002qex.2	protein_coding	YES	CCDS46176.1			621/1776									ovary(1)|pancreas(1)	2	c.(619-621)TCG>TCA			Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF85,SMART_domains:SM00409,Superfamily_domains:SSF48726	leukocyte immunoglobulin-like receptor,		T:0	T:0	ENSP00000406478	T:0	13-Apr	9.06E-05	0.000806				4.71E-05			rs144716655,COSM2150793,COSM2150794	13-Apr	common_variant		ENST00000449561	Transcript		T:0.0006	cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	ENSG00000105609	g.chr19:54759940C>T	6609			LOW								--	--	1																																		LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Silent_p.S198S|LILRB5_uc002qey.2_Silent_p.S207S|LILRB5_uc002qez.2_Intron|LILRB5_uc002qfa.1_Intron|LILRB5_uc010yes.1_RNA	0,1,1	1			p.S207S	NM_006840	NP_006831	T:0		0,1,1	LIRB5_HUMAN	LILRB5	HGNC	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)			4	732	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		UPI0000202BB5	207			Extracellular (Potential).|Ig-like C2-type 2.		SNV	LILRB5,synonymous_variant,p.=,ENST00000450632,;LILRB5,synonymous_variant,p.=,ENST00000316219,NM_001081442.1,NM_006840.3;LILRB5,synonymous_variant,p.=,ENST00000449561,;LILRB5,intron_variant,,ENST00000345866,NM_001081443.1;LILRB5,non_coding_transcript_exon_variant,,ENST00000466581,;LILRB5,intron_variant,,ENST00000463460,;	uc002qex.2	c.621G>A	692/2137	2	2			c.621G>A						19	SNP	c.(619-621)TCG>TCA	34	34			ovary(1)|pancreas(1)	2	Broad	leukocyte immunoglobulin-like receptor,			54759940		0.522	ENSG00000105609	8637	g.chr19:54759940C>T	cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity							127.745724	KEEP	32	26	-1	78	82	32	26	-1	136.900894	78	82	0.26738	1	0	0	0	0	0	0	1	0	--	--		0	T			LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Silent_p.S198S|LILRB5_uc002qey.2_Silent_p.S207S|LILRB5_uc002qez.2_Intron|LILRB5_uc002qfa.1_Intron|LILRB5_uc010yes.1_RNA	48	GBM-06-0211-TP	p.S207S	C	CACTGGGGTTCGACCACACCT	NM_006840	NP_006831	54759940	O75023	LIRB5_HUMAN	0		GBM - Glioblastoma multiforme(193;0.105)	4	732	-	T	T	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		Silent	207			Extracellular (Potential).|Ig-like C2-type 2.			
LILRB5	10990		GRCh37	19	54758761	54758761	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000449561.2:c.1092G>A	p.Pro364=	p.P364=	ENST00000449561		364	ccG/ccA	0																																																																																																																																																																																																																																												
LIMA1	51474	broad.mit.edu	GRCh37	12	50575756	50575756	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5410-01	TCGA-06-5410-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394943.3:c.1208G>A	p.Arg403His	p.R403H	ENST00000394943		403	cGt/cAt	0	T:0		1			T	R/H	uc001rwj.3	protein_coding		CCDS8802.1			1205/2280									ovary(1)	1	c.(1204-1206)CGT>CAT			Gene3D:2.10.110.10,Pfam_domain:PF00412,PROSITE_patterns:PS00478,PROSITE_profiles:PS50023,hmmpanther:PTHR24206,hmmpanther:PTHR24206:SF27,SMART_domains:SM00132,Superfamily_domains:SSF57716	LIM domain and actin binding 1 isoform b			T:0.0002	ENSP00000340184		11-Oct	0.000132	9.61E-05		0.000231		0.00015		0.000182	rs200141288,COSM3398792	11-Oct	.		ENST00000341247	Transcript			actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	ENSG00000050405	g.chr12:50575756C>T	24636			MODERATE		2.925	medium	getma.org/?cm=msa&ty=f&p=LIMA1_HUMAN&rb=390&re=446&var=R402H	getma.org/pdb.php?prot=LIMA1_HUMAN&from=390&to=446&var=R402H	getma.org/?cm=var&var=hg19,12,50575756,C,T&fts=all	R402H	--	--	1																																		LIMA1_uc001rwg.3_Missense_Mutation_p.R100H|LIMA1_uc001rwh.3_Missense_Mutation_p.R241H|LIMA1_uc001rwi.3_Missense_Mutation_p.R243H|LIMA1_uc001rwk.3_Missense_Mutation_p.R403H|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	0,1			probably_damaging(0.963)	p.R402H	NM_016357	NP_057441		deleterious(0)	0,1	LIMA1_HUMAN	LIMA1	HGNC	Q9UHB6	LIMA1_HUMAN			F8VVQ7_HUMAN,F8VTU2_HUMAN		10	1379	-			UPI0000037BF2	402			LIM zinc-binding.		SNV	LIMA1,missense_variant,p.Arg100His,ENST00000547825,NM_001243775.1;LIMA1,missense_variant,p.Arg402His,ENST00000341247,NM_016357.4,NM_001113546.1;LIMA1,missense_variant,p.Arg403His,ENST00000394943,;LIMA1,missense_variant,p.Arg243His,ENST00000552783,NM_001113547.1;LIMA1,missense_variant,p.Arg242His,ENST00000552823,;LIMA1,missense_variant,p.Arg99His,ENST00000552491,;LIMA1,missense_variant,p.Arg241His,ENST00000552909,;RP3-405J10.3,downstream_gene_variant,,ENST00000552061,;LIMA1,non_coding_transcript_exon_variant,,ENST00000552338,;LIMA1,3_prime_UTR_variant,,ENST00000552720,;LIMA1,non_coding_transcript_exon_variant,,ENST00000549064,;	uc001rwj.3	c.1205G>A	1355/3706	2	2			c.1205G>A						12	SNP	c.(1204-1206)CGT>CAT	26	26			ovary(1)	1	Broad	LIM domain and actin binding 1 isoform b			50575756		0.473	ENSG00000050405	8639	g.chr12:50575756C>T	actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding							-7.057468	KEEP	2	3	-1	42	39	2	3	-1	9.691372	42	39	0.060241	1	0	0	0	0	1	0	0	0	--	--		0	T			LIMA1_uc001rwg.3_Missense_Mutation_p.R100H|LIMA1_uc001rwh.3_Missense_Mutation_p.R241H|LIMA1_uc001rwi.3_Missense_Mutation_p.R243H|LIMA1_uc001rwk.3_Missense_Mutation_p.R403H|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	93	GBM-06-5410-TP	p.R402H	C	GGCCAAGAGACGCTCCATTGG	NM_016357	NP_057441	50575756	Q9UHB6	LIMA1_HUMAN	0			10	1379	-	T	T			Missense_Mutation	402			LIM zinc-binding.			
LIMCH1	0	broad.mit.edu	GRCh37	4	41621353	41621353	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313860.7:c.831G>A	p.Thr277=	p.T277=	ENST00000313860	NM_014988.2	277	acG/acA	0			1			A	T	uc003gvu.3	protein_coding	YES	CCDS33977.1			831/3252									ovary(2)|pancreas(1)|skin(1)	4	c.(829-831)ACG>ACA			hmmpanther:PTHR15551,hmmpanther:PTHR15551:SF3	LIM and calponin homology domains 1 isoform a				ENSP00000316891		27-Aug									COSM3409307,COSM3409308,COSM3409309,COSM3409310	27-Aug	.		ENST00000313860	Transcript			actomyosin structure organization		actin binding|zinc ion binding	ENSG00000064042	g.chr4:41621353G>A	29191			LOW								--	--	1																																		LIMCH1_uc003gvt.1_Silent_p.T118T|LIMCH1_uc003gvv.3_Silent_p.T277T|LIMCH1_uc003gvw.3_Silent_p.T277T|LIMCH1_uc003gvx.3_Silent_p.T277T|LIMCH1_uc003gwe.3_Silent_p.T277T|LIMCH1_uc003gvy.3_Silent_p.T118T|LIMCH1_uc003gwa.3_Silent_p.T118T|LIMCH1_uc003gvz.3_Silent_p.T118T|LIMCH1_uc011byu.1_Silent_p.T123T|LIMCH1_uc003gwc.3_Silent_p.T123T|LIMCH1_uc003gwd.3_Silent_p.T123T|LIMCH1_uc011byv.1_Silent_p.T28T|LIMCH1_uc003gwb.1_Silent_p.T125T	1,1,1,1	1			p.T277T	NM_014988	NP_055803			1,1,1,1	LIMC1_HUMAN	LIMCH1	HGNC	Q9UPQ0	LIMC1_HUMAN			D6RJ93_HUMAN,D6RGH8_HUMAN,D6R8Y0_HUMAN		8	885	+			UPI0000D61554	277					SNV	LIMCH1,synonymous_variant,p.=,ENST00000313860,NM_014988.2;LIMCH1,synonymous_variant,p.=,ENST00000396595,NM_001112719.1;LIMCH1,synonymous_variant,p.=,ENST00000381753,NM_001112720.1;LIMCH1,synonymous_variant,p.=,ENST00000503057,;LIMCH1,synonymous_variant,p.=,ENST00000513024,;LIMCH1,synonymous_variant,p.=,ENST00000512820,;LIMCH1,synonymous_variant,p.=,ENST00000512946,NM_001112717.1;LIMCH1,synonymous_variant,p.=,ENST00000508501,NM_001112718.1;LIMCH1,synonymous_variant,p.=,ENST00000512632,;LIMCH1,synonymous_variant,p.=,ENST00000514096,;LIMCH1,synonymous_variant,p.=,ENST00000509277,;LIMCH1,synonymous_variant,p.=,ENST00000511496,;LIMCH1,synonymous_variant,p.=,ENST00000508466,;LIMCH1,synonymous_variant,p.=,ENST00000509638,;LIMCH1,synonymous_variant,p.=,ENST00000509454,;LIMCH1,synonymous_variant,p.=,ENST00000446625,;	uc003gvu.3	c.831G>A	885/6165	2	2			c.831G>A						4	SNP	c.(829-831)ACG>ACA	28	28			ovary(2)|pancreas(1)|skin(1)	4	Broad	LIM and calponin homology domains 1 isoform a			41621353		0.567	ENSG00000064042	8640	g.chr4:41621353G>A	actomyosin structure organization		actin binding|zinc ion binding							204.841873	KEEP	33	35	-1	48	56	33	35	-1	206.383625	48	56	0.396341	1	0	0	0	0	0	0	1	0	--	--		0	A			LIMCH1_uc003gvt.1_Silent_p.T118T|LIMCH1_uc003gvv.3_Silent_p.T277T|LIMCH1_uc003gvw.3_Silent_p.T277T|LIMCH1_uc003gvx.3_Silent_p.T277T|LIMCH1_uc003gwe.3_Silent_p.T277T|LIMCH1_uc003gvy.3_Silent_p.T118T|LIMCH1_uc003gwa.3_Silent_p.T118T|LIMCH1_uc003gvz.3_Silent_p.T118T|LIMCH1_uc011byu.1_Silent_p.T123T|LIMCH1_uc003gwc.3_Silent_p.T123T|LIMCH1_uc003gwd.3_Silent_p.T123T|LIMCH1_uc011byv.1_Silent_p.T28T|LIMCH1_uc003gwb.1_Silent_p.T125T	129	GBM-12-5295-TP	p.T277T	G	GCAATCAGACGGCCTACGTCC	NM_014988	NP_055803	41621353	Q9UPQ0	LIMC1_HUMAN	0			8	885	+	A	A			Silent	277						
LIMK2	0	broad.mit.edu	GRCh37	22	31658176	31658176	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01	TCGA-12-3650-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331728.4:c.608G>A	p.Arg203His	p.R203H	ENST00000331728	NM_005569.3	203	cGc/cAc	0			1			A	R/H	uc003akh.2	protein_coding		CCDS13891.1			608/1917									ovary(2)	2	c.(607-609)CGC>CAC			PROSITE_profiles:PS50106,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF398,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156	LIM domain kinase 2 isoform 2a				ENSP00000332687		16-Jun	1.65E-05					3.00E-05			rs751350349,COSM1256493,COSM1256492	16-Jun	.		ENST00000331728	Transcript				mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	ENSG00000182541	g.chr22:31658176G>A	6614			MODERATE		1.585	low	getma.org/?cm=msa&ty=f&p=LIMK2_HUMAN&rb=152&re=236&var=R203H	getma.org/pdb.php?prot=LIMK2_HUMAN&from=152&to=236&var=R203H	getma.org/?cm=var&var=hg19,22,31658176,G,A&fts=all	R203H	--	--	1																																		LIMK2_uc003akg.2_Missense_Mutation_p.R120H|LIMK2_uc003aki.2_Intron|LIMK2_uc003akj.2_Missense_Mutation_p.R182H|LIMK2_uc003akk.2_Missense_Mutation_p.R182H|LIMK2_uc011aln.1_Missense_Mutation_p.R120H	0,1,1			benign(0.157)	p.R203H	NM_005569	NP_005560		deleterious(0.03)	0,1,1	LIMK2_HUMAN	LIMK2	HGNC	P53671	LIMK2_HUMAN			B4DYR0_HUMAN,B4DR56_HUMAN		6	753	+			UPI00000534BD	203			PDZ.		SNV	LIMK2,missense_variant,p.Arg203His,ENST00000331728,NM_005569.3;LIMK2,missense_variant,p.Arg182His,ENST00000333611,NM_016733.2;LIMK2,missense_variant,p.Arg182His,ENST00000340552,NM_001031801.1;LIMK2,missense_variant,p.Arg125His,ENST00000406516,;LIMK2,intron_variant,,ENST00000444929,;LIMK2,downstream_gene_variant,,ENST00000425203,;LIMK2,non_coding_transcript_exon_variant,,ENST00000465937,;LIMK2,downstream_gene_variant,,ENST00000462625,;	uc003akh.2	c.608G>A	722/3670	2	2			c.608G>A						22	SNP	c.(607-609)CGC>CAC	25	25			ovary(2)	2	Broad	LIM domain kinase 2 isoform 2a			31658176		0.547	ENSG00000182541	8645	g.chr22:31658176G>A		mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			431			431	-48.290243	KEEP	4	1	-1	124	109	4	1	-1	6.615433	124	109	0.018957	1	0	0	0	0	1	0	0	0	--	--		0	A			LIMK2_uc003akg.2_Missense_Mutation_p.R120H|LIMK2_uc003aki.2_Intron|LIMK2_uc003akj.2_Missense_Mutation_p.R182H|LIMK2_uc003akk.2_Missense_Mutation_p.R182H|LIMK2_uc011aln.1_Missense_Mutation_p.R120H	126	GBM-12-3650-TP	p.R203H	G	CCTGGGGACCGCATCCTGGAG	NM_005569	NP_005560	31658176	P53671	LIMK2_HUMAN	0			6	753	+	A	A			Missense_Mutation	203			PDZ.			
LIMK2	3985		GRCh37	22	31658176	31658176	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000340552.4:c.545G>A	p.Arg182His	p.R182H	ENST00000340552	NM_001031801.1	182	cGc/cAc	0																																																																																																																																																																																																																																												
LIN54	132660		GRCh37	4	83905798	83905798	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-28-2510-01	TCGA-28-2510-01																				ENST00000340417.3:c.200C>G	p.Thr67Arg	p.T67R	ENST00000340417	NM_194282.2	67	aCa/aGa	0																																																																																																																																																																																																																																												
LIN9	286826	broad.mit.edu	GRCh37	1	226426780	226426780	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-02-0033-01	TCGA-02-0033-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328205.5:c.1185C>T	p.Pro395=	p.P395=	ENST00000328205	NM_173083.3	395	ccC/ccT	0			1			A	P	uc001hqa.2	protein_coding	YES	CCDS1553.1			1185/1677										0	c.(1183-1185)CCC>CCT			hmmpanther:PTHR21689	lin-9 homolog				ENSP00000329102		15-Dec									COSM3400369	15-Dec	.		ENST00000328205	Transcript			cell cycle|DNA replication	nucleoplasm		ENSG00000183814	g.chr1:226426780G>A	30830			LOW								--	--	1																																		LIN9_uc001hqb.2_Silent_p.P360P|LIN9_uc001hqc.2_Silent_p.P327P|LIN9_uc009xel.1_Silent_p.P360P	1	1			p.P395P	NM_173083	NP_775106			1	LIN9_HUMAN	LIN9	HGNC	Q5TKA1	LIN9_HUMAN		GBM - Glioblastoma multiforme(131;0.131)	B1B047_HUMAN		12	1495	-	Breast(184;0.158)		UPI00001B2F3C	379			Potential.		SNV	LIN9,synonymous_variant,p.=,ENST00000328205,NM_173083.3;LIN9,synonymous_variant,p.=,ENST00000366801,NM_001270409.1;LIN9,synonymous_variant,p.=,ENST00000366808,NM_001270410.1;LIN9,synonymous_variant,p.=,ENST00000460719,;LIN9,synonymous_variant,p.=,ENST00000481685,;	uc001hqa.2	c.1185C>T	1731/3567	2	2			c.1185C>T						1	SNP	c.(1183-1185)CCC>CCT	18	18				0	Broad	lin-9 homolog			226426780		0.343	ENSG00000183814	8656	g.chr1:226426780G>A	cell cycle|DNA replication	nucleoplasm		Ovarian(197;1696 2974 11248 14117)			Ovarian(197;1696 2974 11248 14117)			69.9788	KEEP	15	16	-1	83	59	15	16	-1	83.984579	83	59	0.188312	1	0	0	0	0	0	0	1	0	--	--		0	A			LIN9_uc001hqb.2_Silent_p.P360P|LIN9_uc001hqc.2_Silent_p.P327P|LIN9_uc009xel.1_Silent_p.P360P	2	GBM-02-0033-TP	p.P395P	G	CAATGCTGATGGGCATGGAAT	NM_173083	NP_775106	226426780	Q5TKA1	LIN9_HUMAN	0		GBM - Glioblastoma multiforme(131;0.131)	12	1495	-	A	A	Breast(184;0.158)		Silent	379			Potential.			
LIN9	0	broad.mit.edu	GRCh37	1	226420896	226420896	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C			TCGA-12-0618-01	TCGA-12-0618-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328205.5:c.1474-2A>G		p.X492_splice	ENST00000328205	NM_173083.3			0			1			C		uc001hqa.2	protein_coding	YES	CCDS1553.1			1474/1677										0	c.e14-1				lin-9 homolog				ENSP00000329102											COSM2153612		.		ENST00000328205	Transcript			cell cycle|DNA replication	nucleoplasm		ENSG00000183814	g.chr1:226420896T>C	30830			HIGH	13/14							--	--	1																																		LIN9_uc001hqb.2_Splice_Site_p.C457_splice|LIN9_uc001hqc.2_Splice_Site_p.C424_splice|LIN9_uc009xel.1_Intron	1	1			p.C492_splice	NM_173083	NP_775106			1	LIN9_HUMAN	LIN9	HGNC	Q5TKA1	LIN9_HUMAN		GBM - Glioblastoma multiforme(131;0.131)	B1B047_HUMAN		14	1784	-	Breast(184;0.158)		UPI00001B2F3C						SNV	LIN9,splice_acceptor_variant,,ENST00000328205,NM_173083.3;LIN9,splice_acceptor_variant,,ENST00000366801,NM_001270409.1;LIN9,splice_acceptor_variant,,ENST00000366808,NM_001270410.1;LIN9,splice_acceptor_variant,,ENST00000460719,;LIN9,splice_acceptor_variant,,ENST00000481685,;	uc001hqa.2	c.1474_splice	-/3567	5	3			c.1474_splice						1	SNP	c.e14-1	62	62				0	Broad	lin-9 homolog			226420896		0.294	ENSG00000183814	8656	g.chr1:226420896T>C	cell cycle|DNA replication	nucleoplasm		Ovarian(197;1696 2974 11248 14117)			Ovarian(197;1696 2974 11248 14117)			365.734945	KEEP	49	57	-1	47	56	49	57	-1	365.762231	47	56	0.487179	1	0	0	0	0	0	0	0	1	--	--		0	C			LIN9_uc001hqb.2_Splice_Site_p.C457_splice|LIN9_uc001hqc.2_Splice_Site_p.C424_splice|LIN9_uc009xel.1_Intron	119	GBM-12-0618-TP	p.C492_splice	T	TGCTAGACACTAAAGGGAAAA	NM_173083	NP_775106	226420896	Q5TKA1	LIN9_HUMAN	0		GBM - Glioblastoma multiforme(131;0.131)	14	1784	-	C	C	Breast(184;0.158)		Splice_Site							
LINGO2	158038	broad.mit.edu	GRCh37	9	27949442	27949443	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0128-01	TCGA-06-0128-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379992.2:c.1227dup	p.Pro410ThrfsTer5	p.P410Tfs*5	ENST00000379992	NM_152570.2	409	-/A	0			1			T	-/X	uc003zqu.1	protein_coding		CCDS6524.1			1227-1228/1821									upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	c.(1225-1230)AAACCCfs			hmmpanther:PTHR24373:SF38,hmmpanther:PTHR24373,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	leucine rich repeat and Ig domain containing 2				ENSP00000310126		4-Apr										4-Apr	.		ENST00000308675	Transcript				integral to membrane		ENSG00000174482	g.chr9:27949442_27949443insT	21207			HIGH								--	--	1																																		LINGO2_uc010mjf.1_Frame_Shift_Ins_p.K409fs|LINGO2_uc003zqv.1_Frame_Shift_Ins_p.K409fs					p.K409fs	NM_152570	NP_689783				LIGO2_HUMAN	LINGO2	HGNC	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)			2	1421_1422	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	UPI000004C7CD	409_410			Ig-like C2-type.|Extracellular (Potential).		insertion	LINGO2,frameshift_variant,p.Pro410ThrfsTer5,ENST00000379992,NM_152570.2;LINGO2,frameshift_variant,p.Pro410ThrfsTer5,ENST00000308675,;RP11-438B23.2,upstream_gene_variant,,ENST00000566293,;	uc003zqu.1	c.1227_1228insA	1485-1486/2368	5	5			c.1227_1228insA						9	INS	c.(1225-1230)AAACCCfs	64	64			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Broad	leucine rich repeat and Ig domain containing 2			27949443		0.49	ENSG00000174482	8658	g.chr9:27949442_27949443insT		integral to membrane																					0.11	1	0	0	1	1	0	0	0	0	--	--		0	T			LINGO2_uc010mjf.1_Frame_Shift_Ins_p.K409fs|LINGO2_uc003zqv.1_Frame_Shift_Ins_p.K409fs	14	GBM-06-0128-TP	p.K409fs	-	CGGATTTTGGGTTTTTTGCAGG	NM_152570	NP_689783	27949442	Q7L985	LIGO2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	2	1421_1422	-	T	T	Melanoma(11;0.242)	all_neural(11;2.78e-09)	Frame_Shift_Ins	409_410			Ig-like C2-type.|Extracellular (Potential).			
LINGO2	0	broad.mit.edu	GRCh37	9	27950347	27950347	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01	TCGA-12-3652-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308675.3:c.323G>A	p.Arg108His	p.R108H	ENST00000308675		108	cGt/cAt	0			1			T	R/H	uc003zqu.1	protein_coding		CCDS6524.1			323/1821									upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	c.(322-324)CGT>CAT			Low_complexity_(Seg):seg,PROSITE_profiles:PS51450,hmmpanther:PTHR24373:SF38,hmmpanther:PTHR24373,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,Superfamily_domains:SSF52058	leucine rich repeat and Ig domain containing 2				ENSP00000310126		4-Apr									COSM184533,COSM3413579	4-Apr	.		ENST00000308675	Transcript				integral to membrane		ENSG00000174482	g.chr9:27950347C>T	21207			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=LIGO2_HUMAN&rb=105&re=165&var=R108H	getma.org/pdb.php?prot=LIGO2_HUMAN&from=105&to=165&var=R108H	getma.org/?cm=var&var=hg19,9,27950347,C,T&fts=all	R108H	--	--	1																																		LINGO2_uc010mjf.1_Missense_Mutation_p.R108H|LINGO2_uc003zqv.1_Missense_Mutation_p.R108H	1,1			benign(0.016)	p.R108H	NM_152570	NP_689783		tolerated(0.14)	1,1	LIGO2_HUMAN	LINGO2	HGNC	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)			2	517	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	UPI000004C7CD	108			LRR 3.|Extracellular (Potential).		SNV	LINGO2,missense_variant,p.Arg108His,ENST00000379992,NM_152570.2;LINGO2,missense_variant,p.Arg108His,ENST00000308675,;	uc003zqu.1	c.323G>A	581/2368	2	2			c.323G>A						9	SNP	c.(322-324)CGT>CAT	30	30			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Broad	leucine rich repeat and Ig domain containing 2			27950347		0.438	ENSG00000174482	8658	g.chr9:27950347C>T		integral to membrane								411.742705	KEEP	69	65	-1	27	10	69	65	-1	423.642381	27	10	0.782609	1	0	0	0	0	1	0	0	0	--	--		0	T			LINGO2_uc010mjf.1_Missense_Mutation_p.R108H|LINGO2_uc003zqv.1_Missense_Mutation_p.R108H	127	GBM-12-3652-TP	p.R108H	C	GCGGAGGGAACGCAGGTTAAA	NM_152570	NP_689783	27950347	Q7L985	LIGO2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	2	517	-	T	T	Melanoma(11;0.242)	all_neural(11;2.78e-09)	Missense_Mutation	108			LRR 3.|Extracellular (Potential).			
LINGO2	158038		GRCh37	9	27948963	27948963	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000379992.2:c.1707G>T	p.Gly569=	p.G569=	ENST00000379992	NM_152570.2	569	ggG/ggT	0																																																																																																																																																																																																																																												
LINGO4	0	broad.mit.edu	GRCh37	1	151774395	151774395	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0789-01	TCGA-14-0789-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368820.3:c.786C>T	p.Cys262=	p.C262=	ENST00000368820	NM_001004432.2	262	tgC/tgT	0			1			A	C	uc001ezf.1	protein_coding	YES	CCDS30855.1			786/1782									large_intestine(1)	1	c.(784-786)TGC>TGT			hmmpanther:PTHR24371,hmmpanther:PTHR24371:SF14,Gene3D:3.80.10.10,Pfam_domain:PF13855,Superfamily_domains:SSF52058	leucine rich repeat and Ig domain containing 4				ENSP00000357810		2-Feb	8.24E-06			0.000116					rs769036572,COSM3399698	2-Feb	.		ENST00000368820	Transcript				integral to membrane		ENSG00000213171	g.chr1:151774395G>A	31814			LOW								--	--	1																																			0,1	1			p.C262C	NM_001004432	NP_001004432			0,1	LIGO4_HUMAN	LINGO4	HGNC	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)				2	976	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		UPI000019993B	262			Extracellular (Potential).|LRR 8.		SNV	LINGO4,synonymous_variant,p.=,ENST00000368820,NM_001004432.2;RORC,downstream_gene_variant,,ENST00000356728,NM_001001523.1;RORC,downstream_gene_variant,,ENST00000392697,;RP11-98D18.17,downstream_gene_variant,,ENST00000601909,;	uc001ezf.1	c.786C>T	1724/3379	2	2			c.786C>T						1	SNP	c.(784-786)TGC>TGT	33	33			large_intestine(1)	1	Broad	leucine rich repeat and Ig domain containing 4			151774395		0.607	ENSG00000213171	8660	g.chr1:151774395G>A		integral to membrane								101.044181	KEEP	17	34	-1	81	71	17	34	-1	111.312979	81	71	0.25	1	0	0	0	0	0	0	1	0	--	--		0	A				136	GBM-14-0789-TP	p.C262C	G	AGCTCAGATTGCAGCGAGTGA	NM_001004432	NP_001004432	151774395	Q6UY18	LIGO4_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.181)		2	976	-	A	A	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		Silent	262			Extracellular (Potential).|LRR 8.			
LIPE	3991	broad.mit.edu	GRCh37	19	42909550	42909550	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0190-01	TCGA-06-0190-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000244289.4:c.2529G>A	p.Ser843=	p.S843=	ENST00000244289	NM_005357.2	843	tcG/tcA	0			1			T	S	uc002otr.2	protein_coding	YES	CCDS12607.1			2529/3231									ovary(1)|breast(1)	2	c.(2527-2529)TCG>TCA			hmmpanther:PTHR23025,hmmpanther:PTHR23025:SF3	hormone-sensitive lipase				ENSP00000244289		10-Aug	3.29E-05					6.10E-05			rs770762145,COSM3404301	10-Aug	.		ENST00000244289	Transcript			cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	ENSG00000079435	g.chr19:42909550C>T	6621			LOW								--	--	1																																		uc010eif.1_Intron	0,1	1			p.S843S	NM_005357	NP_005348			0,1	LIPS_HUMAN	LIPE	HGNC	Q05469	LIPS_HUMAN			M0QXM5_HUMAN,M0QXB1_HUMAN		8	2806	-		Prostate(69;0.00682)	UPI000013CB66	843					SNV	LIPE,synonymous_variant,p.=,ENST00000244289,NM_005357.2;LIPE,synonymous_variant,p.=,ENST00000597620,;LIPE,synonymous_variant,p.=,ENST00000599918,;LIPE,downstream_gene_variant,,ENST00000599783,;LIPE,downstream_gene_variant,,ENST00000597001,;LIPE,downstream_gene_variant,,ENST00000599211,;LIPE-AS1,intron_variant,,ENST00000594624,;LIPE-AS1,intron_variant,,ENST00000597203,;LIPE-AS1,intron_variant,,ENST00000593491,;LIPE-AS1,intron_variant,,ENST00000599276,;LIPE,downstream_gene_variant,,ENST00000602000,;LIPE,non_coding_transcript_exon_variant,,ENST00000600224,;	uc002otr.2	c.2529G>A	2806/3813	2	2			c.2529G>A						19	SNP	c.(2527-2529)TCG>TCA	20	20			ovary(1)|breast(1)	2	Broad	hormone-sensitive lipase			42909550		0.592	ENSG00000079435	8664	g.chr19:42909550C>T	cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding							13.617541	KEEP	4	7	-1	39	35	4	7	-1	24.981514	39	35	0.115385	1	0	0	0	0	0	0	1	0	--	--		0	T			uc010eif.1_Intron	43	GBM-06-0190-TP	p.S843S	C	CTATGGGCTCCGACATCTTCT	NM_005357	NP_005348	42909550	Q05469	LIPS_HUMAN	0			8	2806	-	T	T		Prostate(69;0.00682)	Silent	843						
LIPF	8513		GRCh37	10	90428330	90428330	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000394375.3:c.269T>A	p.Val90Glu	p.V90E	ENST00000394375	NM_001198829.1	90	gTg/gAg	0																																																																																																																																																																																																																																												
LIPG	0	broad.mit.edu	GRCh37	18	47101837	47101837	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-1747-01	TCGA-28-1747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261292.4:c.670C>T	p.Arg224Cys	p.R224C	ENST00000261292	NM_006033.2	224	Cgt/Tgt	0			1			T	R/C	uc002ldv.2	protein_coding	YES	CCDS11938.1			670/1503									ovary(1)|skin(1)	2	c.(670-672)CGT>TGT			Prints_domain:PR00822,Superfamily_domains:SSF53474,PIRSF_domain:PIRSF000865,Gene3D:3.40.50.1820,Pfam_domain:PF00151,hmmpanther:PTHR11610:SF13,hmmpanther:PTHR11610	endothelial lipase precursor				ENSP00000261292		10-May	8.24E-06			0.000116					rs758552549,COSM3403548	10-May	.		ENST00000261292	Transcript			cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	ENSG00000101670	g.chr18:47101837C>T	6623			MODERATE		2.415	medium	getma.org/?cm=msa&ty=f&p=LIPE_HUMAN&rb=20&re=344&var=R224C	getma.org/pdb.php?prot=LIPE_HUMAN&from=20&to=344&var=R224C	getma.org/?cm=var&var=hg19,18,47101837,C,T&fts=all	R224C	--	--	1																																		LIPG_uc002ldu.1_Missense_Mutation_p.R224C|LIPG_uc010xdh.1_Intron	0,1	1		benign(0.052)	p.R224C	NM_006033	NP_006024		deleterious(0.01)	0,1	LIPE_HUMAN	LIPG	HGNC	Q9Y5X9	LIPE_HUMAN			J3KTN7_HUMAN		5	922	+			UPI000012E706	224					SNV	LIPG,missense_variant,p.Arg224Cys,ENST00000261292,NM_006033.2;LIPG,missense_variant,p.Arg260Cys,ENST00000577628,;LIPG,missense_variant,p.Arg224Cys,ENST00000580036,;LIPG,intron_variant,,ENST00000427224,;	uc002ldv.2	c.670C>T	948/4161	2	2			c.670C>T						18	SNP	c.(670-672)CGT>TGT	46	46			ovary(1)|skin(1)	2	Broad	endothelial lipase precursor			47101837		0.557	ENSG00000101670	8666	g.chr18:47101837C>T	cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	Pancreas(126;280 1778 12814 26243 34948)			Pancreas(126;280 1778 12814 26243 34948)			87.815707	KEEP	22	19	-1	37	27	22	19	-1	88.881555	37	27	0.378049	1	0	0	0	0	1	0	0	0	--	--		0	T			LIPG_uc002ldu.1_Missense_Mutation_p.R224C|LIPG_uc010xdh.1_Intron	206	GBM-28-1747-TP	p.R224C	C	CACCTACACGCGTTCCTTCGG	NM_006033	NP_006024	47101837	Q9Y5X9	LIPE_HUMAN	0			5	922	+	T	T			Missense_Mutation	224						
LIPH	200879	broad.mit.edu	GRCh37	3	185245282	185245282	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296252.4:c.618C>T	p.Ser206=	p.S206=	ENST00000296252	NM_139248.2	206	tcC/tcT	0			1			A	S	uc003fpm.2	protein_coding	YES	CCDS3272.1			618/1356									ovary(1)|pancreas(1)	2	c.(616-618)TCC>TCT			Gene3D:3.40.50.1820,Pfam_domain:PF00151,PIRSF_domain:PIRSF000865,hmmpanther:PTHR11610,hmmpanther:PTHR11610:SF12,Superfamily_domains:SSF53474	lipase, member H precursor				ENSP00000296252		10-Apr									COSM3408494	10-Apr	.		ENST00000296252	Transcript	1		lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity	ENSG00000163898	g.chr3:185245282G>A	18483			LOW								--	--	1																																		LIPH_uc010hyh.2_Intron	1	1			p.S206S	NM_139248	NP_640341			1	LIPH_HUMAN	LIPH	HGNC	Q8WWY8	LIPH_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		A2IBA8_HUMAN		4	728	-	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		UPI000003AEB8	206					SNV	LIPH,synonymous_variant,p.=,ENST00000296252,NM_139248.2;LIPH,intron_variant,,ENST00000424591,;LIPH,intron_variant,,ENST00000452897,;	uc003fpm.2	c.618C>T	760/4026	1	1			c.618C>T						3	SNP	c.(616-618)TCC>TCT	53	53			ovary(1)|pancreas(1)	2	Broad	lipase, member H precursor			185245282		0.527	ENSG00000163898	8667	g.chr3:185245282G>A	lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity							252.446068	KEEP	35	49	-1	13	16	35	49	-1	257.609789	13	16	0.742268	1	0	0	0	0	0	0	1	0	--	--		0	A			LIPH_uc010hyh.2_Intron	102	GBM-06-5858-TP	p.S206S	G	CATCAGTGTCGGAATGGATGA	NM_139248	NP_640341	185245282	Q8WWY8	LIPH_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		4	728	-	A	A	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		Silent	206						
LIPI	149998	broad.mit.edu	GRCh37	21	15561699	15561699	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-2561-01	TCGA-06-2561-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344577.2:c.151A>G	p.Lys51Glu	p.K51E	ENST00000344577	NM_198996.2	51	Aag/Gag	0			1			C	K/E	uc002yjm.2	protein_coding	YES	CCDS13564.1			151/1446									ovary(2)	2	c.(151-153)AAG>GAG			hmmpanther:PTHR11610:SF84,hmmpanther:PTHR11610,PIRSF_domain:PIRSF000865,Superfamily_domains:SSF53474	lipase, member I				ENSP00000343331		10-Feb									COSM2152731	10-Feb	.		ENST00000344577	Transcript	1		lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	ENSG00000188992	g.chr21:15561699T>C	18821			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=LIPI_HUMAN&rb=8&re=334&var=K30E	NA	getma.org/?cm=var&var=hg19,21,15561699,T,C&fts=all	K30E	--	--	1																																		LIPI_uc010gkw.1_5'UTR	1	1		possibly_damaging(0.772)	p.K51E	NM_198996	NP_945347		tolerated(0.24)	1	LIPI_HUMAN	LIPI	HGNC	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)			2	161	-			UPI000015F82D	30					SNV	LIPI,missense_variant,p.Lys51Glu,ENST00000344577,NM_198996.2;LIPI,missense_variant,p.Lys30Glu,ENST00000536861,;LIPI,upstream_gene_variant,,ENST00000400211,;	uc002yjm.2	c.151A>G	177/1652	3	3			c.151A>G						21	SNP	c.(151-153)AAG>GAG	3	3			ovary(2)	2	Broad	lipase, member I			15561699		0.358	ENSG00000188992	8668	g.chr21:15561699T>C	lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity							200.400586	KEEP	29	40	-1	73	87	29	40	-1	207.761101	73	87	0.29902	1	0	0	0	0	1	0	0	0	--	--		0	C			LIPI_uc010gkw.1_5'UTR	84	GBM-06-2561-TP	p.K51E	T	AAGGAATCCTTTACACTTAGC	NM_198996	NP_945347	15561699	Q6XZB0	LIPI_HUMAN	0		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	2	161	-	C	C			Missense_Mutation	30						
LLGL1	0	broad.mit.edu	GRCh37	17	18138556	18138556	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-2631-01	TCGA-19-2631-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316843.4:c.1214C>G	p.Pro405Arg	p.P405R	ENST00000316843	NM_004140.3	405	cCc/cGc	0			1			G	P/R	uc002gsp.2	protein_coding	YES	CCDS32586.1			1214/3195									breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)	6	c.(1213-1215)CCC>CGC			hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF21	lethal giant larvae homolog 1				ENSP00000321537		23-Oct									COSM2156406	23-Oct	.		ENST00000316843	Transcript			cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	ENSG00000131899	g.chr17:18138556C>G	6628			MODERATE		2.84	medium	getma.org/?cm=msa&ty=f&p=L2GL1_HUMAN&rb=381&re=580&var=P405R	getma.org/pdb.php?prot=L2GL1_HUMAN&from=381&to=580&var=P405R	getma.org/?cm=var&var=hg19,17,18138556,C,G&fts=all	P405R	--	--	1																																			1	1		possibly_damaging(0.873)	p.P405R	NM_004140	NP_004131		deleterious(0)	1	L2GL1_HUMAN	LLGL1	HGNC	Q15334	L2GL1_HUMAN			A0PJG1_HUMAN		10	1275	+	all_neural(463;0.228)		UPI000049DE38	405			WD 8.		SNV	LLGL1,missense_variant,p.Pro405Arg,ENST00000316843,NM_004140.3;LLGL1,non_coding_transcript_exon_variant,,ENST00000479155,;	uc002gsp.2	c.1214C>G	1310/4260	3	3			c.1214C>G						17	SNP	c.(1213-1215)CCC>CGC	12	12			breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)	6	Broad	lethal giant larvae homolog 1			18138556		0.672	ENSG00000131899	8676	g.chr17:18138556C>G	cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity							51.995059	KEEP	8	8	-1	13	15	8	8	-1	52.091912	13	15	0.444444	1	0	0	0	0	1	0	0	0	--	--		0	G				167	GBM-19-2631-TP	p.P405R	C	GCCAGTGTCCCCGCCAAGCTG	NM_004140	NP_004131	18138556	Q15334	L2GL1_HUMAN	0			10	1275	+	G	G	all_neural(463;0.228)		Missense_Mutation	405			WD 8.			
LLGL1	3996		GRCh37	17	18135847	18135847	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000316843.4:c.218G>A	p.Arg73Gln	p.R73Q	ENST00000316843	NM_004140.3	73	cGg/cAg	0																																																																																																																																																																																																																																												
LLGL2	3993	broad.mit.edu	GRCh37	17	73555474	73555474	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-06-0646-01	TCGA-06-0646-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392550.3:c.513G>C	p.Ser171=	p.S171=	ENST00000392550	NM_001031803.1	171	tcG/tcC	0		A:0	1	A:0		C	S	uc002joh.2	protein_coding	YES	CCDS32733.1			513/3063									ovary(2)	2	c.(511-513)TCG>TCC			Gene3D:2.130.10.10,hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF20,Superfamily_domains:SSF50978	lethal giant larvae homolog 2 isoform c		A:0.004		ENSP00000376333	A:0	26-Jun	8.24E-06							7.04E-05	rs553929286,COSM3403213,COSM3403214,COSM3403215	26-Jun	.		ENST00000392550	Transcript		A:0.0008	cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	ENSG00000073350	g.chr17:73555474G>C	6629			LOW								--	--	1																																		LLGL2_uc002jog.1_Silent_p.S171S|LLGL2_uc010dgf.1_Silent_p.S171S|LLGL2_uc002joi.2_Silent_p.S171S|LLGL2_uc010dgg.1_Silent_p.S171S|LLGL2_uc002joj.2_Silent_p.S160S	0,1,1,1	1			p.S171S	NM_001031803	NP_001026973	A:0		0,1,1,1	L2GL2_HUMAN	LLGL2	HGNC	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		J3QSA6_HUMAN,J3QRZ8_HUMAN,J3QLV4_HUMAN,J3QL58_HUMAN,J3KRE1_HUMAN		6	667	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		UPI00005905A8	171					SNV	LLGL2,synonymous_variant,p.=,ENST00000392550,NM_001031803.1;LLGL2,synonymous_variant,p.=,ENST00000167462,NM_004524.2;LLGL2,synonymous_variant,p.=,ENST00000577200,;LLGL2,synonymous_variant,p.=,ENST00000578363,;LLGL2,synonymous_variant,p.=,ENST00000375227,NM_001015002.1;LLGL2,downstream_gene_variant,,ENST00000578536,;LLGL2,downstream_gene_variant,,ENST00000581713,;LLGL2,downstream_gene_variant,,ENST00000580578,;LLGL2,downstream_gene_variant,,ENST00000583658,;LLGL2,downstream_gene_variant,,ENST00000579392,;LLGL2,downstream_gene_variant,,ENST00000580925,;LLGL2,non_coding_transcript_exon_variant,,ENST00000545227,;LLGL2,non_coding_transcript_exon_variant,,ENST00000582860,;LLGL2,upstream_gene_variant,,ENST00000578638,;LLGL2,upstream_gene_variant,,ENST00000580027,;	uc002joh.2	c.513G>C	630/3509	3	3			c.513G>C						17	SNP	c.(511-513)TCG>TCC	52	52			ovary(2)	2	Broad	lethal giant larvae homolog 2 isoform c			73555474		0.617	ENSG00000073350	8677	g.chr17:73555474G>C	cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding							28.233199	KEEP	10	13	-1	48	57	10	13	-1	40.835192	48	57	0.149533	1	0	0	0	0	0	0	1	0	--	--		0	C			LLGL2_uc002jog.1_Silent_p.S171S|LLGL2_uc010dgf.1_Silent_p.S171S|LLGL2_uc002joi.2_Silent_p.S171S|LLGL2_uc010dgg.1_Silent_p.S171S|LLGL2_uc002joj.2_Silent_p.S160S	60	GBM-06-0646-TP	p.S171S	G	CCATCAGCTCGGACGCGGTGC	NM_001031803	NP_001026973	73555474	Q6P1M3	L2GL2_HUMAN	0	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		6	667	+	C	C	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		Silent	171						
LMAN1	3998	broad.mit.edu	GRCh37	18	57022801	57022801	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0155-01	TCGA-06-0155-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251047.5:c.304G>T	p.Glu102Ter	p.E102*	ENST00000251047	NM_005570.3	102	Gag/Tag	0			1			A	E/*	uc002lhz.2	protein_coding	YES	CCDS11974.1			304/1533									skin(1)	1	c.(304-306)GAG>TAG			PROSITE_profiles:PS51328,hmmpanther:PTHR12223:SF21,hmmpanther:PTHR12223,Gene3D:2.60.120.200,Pfam_domain:PF03388,Superfamily_domains:SSF49899	lectin, mannose-binding, 1 precursor	Antihemophilic Factor(DB00025)			ENSP00000251047		13-Feb									COSM2149962	13-Feb	.		ENST00000251047	Transcript	1		blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	ENSG00000074695	g.chr18:57022801C>A	6631			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,18,57022801,C,A&fts=all	E102*	--	--	1																																		LMAN1_uc010xek.1_Nonsense_Mutation_p.E102*	1	1			p.E102*	NM_005570	NP_005561			1	LMAN1_HUMAN	LMAN1	HGNC	P49257	LMAN1_HUMAN					2	336	-		Colorectal(73;0.0946)	UPI000012A0DD	102			Lumenal (Potential).|L-type lectin-like.		SNV	LMAN1,stop_gained,p.Glu102Ter,ENST00000251047,NM_005570.3;LMAN1,upstream_gene_variant,,ENST00000587940,;LMAN1,non_coding_transcript_exon_variant,,ENST00000587561,;	uc002lhz.2	c.304G>T	1022/5521	5	1			c.304G>T						18	SNP	c.(304-306)GAG>TAG	49	49			skin(1)	1	Broad	lectin, mannose-binding, 1 precursor		Antihemophilic Factor(DB00025)	57022801		0.413	ENSG00000074695	8679	g.chr18:57022801C>A	blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding							178.974828	KEEP	31	37	0.544117647	48	65	31	37	0.544117647	181.379978	48	65	0.372781	1	0	0	0	0	0	1	0	0	--	--		0	A			LMAN1_uc010xek.1_Nonsense_Mutation_p.E102*	27	GBM-06-0155-TP	p.E102*	C	TCCCAGTTCTCAAAGGCCGCT	NM_005570	NP_005561	57022801	P49257	LMAN1_HUMAN	0			2	336	-	A	A		Colorectal(73;0.0946)	Nonsense_Mutation	102			Lumenal (Potential).|L-type lectin-like.			
LMAN1	3998	broad.mit.edu	GRCh37	18	57014768	57014768	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-5411-01	TCGA-06-5411-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251047.5:c.799T>C	p.Leu267=	p.L267=	ENST00000251047	NM_005570.3	267	Ttg/Ctg	0			1			G	L	uc002lhz.2	protein_coding	YES	CCDS11974.1			799/1533									skin(1)	1	c.(799-801)TTG>CTG			PROSITE_profiles:PS51328,hmmpanther:PTHR12223:SF21,hmmpanther:PTHR12223,Gene3D:2.60.120.200,Pfam_domain:PF03388,Superfamily_domains:SSF49899	lectin, mannose-binding, 1 precursor	Antihemophilic Factor(DB00025)			ENSP00000251047		13-Jul									COSM2153147	13-Jul	.		ENST00000251047	Transcript	1		blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	ENSG00000074695	g.chr18:57014768A>G	6631			LOW								--	--	1																																			1	1			p.L267L	NM_005570	NP_005561			1	LMAN1_HUMAN	LMAN1	HGNC	P49257	LMAN1_HUMAN					7	831	-		Colorectal(73;0.0946)	UPI000012A0DD	267			Lumenal (Potential).|L-type lectin-like.		SNV	LMAN1,synonymous_variant,p.=,ENST00000251047,NM_005570.3;LMAN1,non_coding_transcript_exon_variant,,ENST00000587940,;	uc002lhz.2	c.799T>C	1517/5521	3	3			c.799T>C						18	SNP	c.(799-801)TTG>CTG	8	8			skin(1)	1	Broad	lectin, mannose-binding, 1 precursor		Antihemophilic Factor(DB00025)	57014768		0.279	ENSG00000074695	8679	g.chr18:57014768A>G	blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding							19.341674	KEEP	4	3	-1	11	10	4	3	-1	20.206676	11	10	0.285714	1	0	0	0	0	0	0	1	0	--	--		0	G				94	GBM-06-5411-TP	p.L267L	A	GGTTCAGTCAACTGGAAAGTC	NM_005570	NP_005561	57014768	P49257	LMAN1_HUMAN	0			7	831	-	G	G		Colorectal(73;0.0946)	Silent	267			Lumenal (Potential).|L-type lectin-like.			
LMAN1	0	broad.mit.edu	GRCh37	18	57022568	57022568	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-12-1597-01	TCGA-12-1597-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251047.5:c.454G>T	p.Asp152Tyr	p.D152Y	ENST00000251047	NM_005570.3	152	Gat/Tat	0			1			A	D/Y	uc002lhz.2	protein_coding	YES	CCDS11974.1			454/1533									skin(1)	1	c.(454-456)GAT>TAT			PROSITE_profiles:PS51328,hmmpanther:PTHR12223:SF21,hmmpanther:PTHR12223,Gene3D:2.60.120.200,Pfam_domain:PF03388,Superfamily_domains:SSF49899	lectin, mannose-binding, 1 precursor	Antihemophilic Factor(DB00025)			ENSP00000251047		13-Mar	8.24E-06					1.63E-05			rs750297212,COSM3403592	13-Mar	.		ENST00000251047	Transcript	1		blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	ENSG00000074695	g.chr18:57022568C>A	6631			MODERATE		3.95	high	getma.org/?cm=msa&ty=f&p=LMAN1_HUMAN&rb=44&re=269&var=D152Y	getma.org/pdb.php?prot=LMAN1_HUMAN&from=44&to=269&var=D152Y	getma.org/?cm=var&var=hg19,18,57022568,C,A&fts=all	D152Y	--	--	1																																		LMAN1_uc010xek.1_Missense_Mutation_p.D152Y	0,1	1		probably_damaging(1)	p.D152Y	NM_005570	NP_005561		deleterious(0)	0,1	LMAN1_HUMAN	LMAN1	HGNC	P49257	LMAN1_HUMAN					3	486	-		Colorectal(73;0.0946)	UPI000012A0DD	152			Lumenal (Potential).|L-type lectin-like.	Calcium.	SNV	LMAN1,missense_variant,p.Asp152Tyr,ENST00000251047,NM_005570.3;LMAN1,upstream_gene_variant,,ENST00000587940,;LMAN1,non_coding_transcript_exon_variant,,ENST00000587561,;	uc002lhz.2	c.454G>T	1172/5521	2	2			c.454G>T						18	SNP	c.(454-456)GAT>TAT	42	42			skin(1)	1	Broad	lectin, mannose-binding, 1 precursor		Antihemophilic Factor(DB00025)	57022568		0.353	ENSG00000074695	8679	g.chr18:57022568C>A	blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding							2.76665	KEEP	4	0	-1	27	15	4	0	-1	9.417994	27	15	0.097561	1	0	0	0	0	1	0	0	0	--	--		0	A			LMAN1_uc010xek.1_Missense_Mutation_p.D152Y	124	GBM-12-1597-TP	p.D152Y	C	TCAAAAGAATCAAAAAATATT	NM_005570	NP_005561	57022568	P49257	LMAN1_HUMAN	0			3	486	-	A	A		Colorectal(73;0.0946)	Missense_Mutation	152			Lumenal (Potential).|L-type lectin-like.	Calcium.		
LMAN1	3998		GRCh37	18	57013193	57013194	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000251047.5:c.912dup	p.Glu305ArgfsTer20	p.E305Rfs*20	ENST00000251047	NM_005570.3	304	-/A	0																																																																																																																																																																																																																																												
LMAN1L	0	broad.mit.edu	GRCh37	15	75116023	75116023	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs147808783	byFrequency	TCGA-12-0692-01	TCGA-12-0692-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309664.5:c.1323G>A	p.Ala441=	p.A441=	ENST00000309664	NM_021819.2	441	gcG/gcA	0	A:0.0002	A:0	1	A:0		A	A	uc002ayt.1	protein_coding	YES	CCDS10270.1			1323/1581										0	c.(1321-1323)GCG>GCA			hmmpanther:PTHR12223,hmmpanther:PTHR12223:SF27,Low_complexity_(Seg):seg	lectin, mannose-binding, 1 like precursor		A:0.001	A:0.0001	ENSP00000310431	A:0.002	14-Dec	0.0019		8.65E-05	0.00649	0.0143	0.000862	0.0122	0.000733	rs147808783,COSM3401919	14-Dec	common_variant		ENST00000309664	Transcript		A:0.0006		ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	ENSG00000140506	g.chr15:75116023G>A	6632			LOW								--	--	1																																		LMAN1L_uc010bke.1_Silent_p.A429A|CPLX3_uc002ayu.1_5'Flank	0,1	1			p.A441A	NM_021819	NP_068591	A:0		0,1	LMA1L_HUMAN	LMAN1L	HGNC	Q9HAT1	LMA1L_HUMAN					12	1325	+			UPI00001AEF1F	441			Lumenal (Potential).		SNV	LMAN1L,splice_region_variant,p.=,ENST00000309664,NM_021819.2;LMAN1L,splice_region_variant,p.=,ENST00000379709,;LMAN1L,intron_variant,,ENST00000567848,;CPLX3,upstream_gene_variant,,ENST00000395018,NM_001030005.2;RP11-414J4.2,splice_region_variant,,ENST00000488000,;RP11-414J4.2,non_coding_transcript_exon_variant,,ENST00000564823,;LMAN1L,non_coding_transcript_exon_variant,,ENST00000565585,;LMAN1L,downstream_gene_variant,,ENST00000470711,;LMAN1L,downstream_gene_variant,,ENST00000456603,;LMAN1L,upstream_gene_variant,,ENST00000566046,;	uc002ayt.1	c.1323G>A	1462/1873	2	2			c.1323G>A						15	SNP	c.(1321-1323)GCG>GCA	43	43				0	Broad	lectin, mannose-binding, 1 like precursor			75116023		0.622	ENSG00000140506	8680	g.chr15:75116023G>A		ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding							12.619745	KEEP	7	3	-1	45	36	7	3	-1	23.245588	45	36	0.12	1	0	0	0	0	0	0	1	0	--	--		0	A			LMAN1L_uc010bke.1_Silent_p.A429A|CPLX3_uc002ayu.1_5'Flank	122	GBM-12-0692-TP	p.A441A	G	GGGGCCCGGCGGTGAGGGGAA	NM_021819	NP_068591	75116023	Q9HAT1	LMA1L_HUMAN	0			12	1325	+	A	A			Silent	441			Lumenal (Potential).			
LMAN2	10960	broad.mit.edu	GRCh37	5	176765541	176765541	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0648-01	TCGA-06-0648-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303127.7:c.381C>T	p.Asn127=	p.N127=	ENST00000303127	NM_006816.2	127	aaC/aaT	0	A:0.0005		1			A	N	uc003mge.2	protein_coding	YES	CCDS4417.1			381/1071										0	c.(379-381)AAC>AAT			Gene3D:2.60.120.200,Pfam_domain:PF03388,PROSITE_profiles:PS51328,hmmpanther:PTHR12223,hmmpanther:PTHR12223:SF22,Superfamily_domains:SSF49899	lectin, mannose-binding 2 precursor			A:0	ENSP00000303366		8-Mar									rs372993074,COSM2151369	8-Mar	.		ENST00000303127	Transcript			protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding	ENSG00000169223	g.chr5:176765541G>A	16986			LOW								--	--	1																																		LMAN2_uc003mgd.2_Silent_p.N127N	0,1	1			p.N127N	NM_006816	NP_006807			0,1	LMAN2_HUMAN	LMAN2	HGNC	Q12907	LMAN2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		D6RIU4_HUMAN,B4DWN1_HUMAN		3	618	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	UPI0000037B35	127			Lumenal (Potential).|L-type lectin-like.		SNV	LMAN2,synonymous_variant,p.=,ENST00000303127,NM_006816.2;LMAN2,synonymous_variant,p.=,ENST00000515209,;LMAN2,synonymous_variant,p.=,ENST00000502560,;LMAN2,synonymous_variant,p.=,ENST00000513877,;LMAN2,synonymous_variant,p.=,ENST00000514458,;RN7SL562P,downstream_gene_variant,,ENST00000582768,;LMAN2,non_coding_transcript_exon_variant,,ENST00000506310,;LMAN2,non_coding_transcript_exon_variant,,ENST00000502721,;LMAN2,upstream_gene_variant,,ENST00000504071,;	uc003mge.2	c.381C>T	586/1800	2	2			c.381C>T						5	SNP	c.(379-381)AAC>AAT	24	24				0	Broad	lectin, mannose-binding 2 precursor			176765541		0.632	ENSG00000169223	8681	g.chr5:176765541G>A	protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding							302.550161	KEEP	60	58	-1	99	78	60	58	-1	304.950217	99	78	0.396078	1	0	0	0	0	0	0	1	0	--	--		0	A			LMAN2_uc003mgd.2_Silent_p.N127N	61	GBM-06-0648-TP	p.N127N	G	CTCCATGGAGGTTCTTCTTCC	NM_006816	NP_006807	176765541	Q12907	LMAN2_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	618	-	A	A	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Silent	127			Lumenal (Potential).|L-type lectin-like.			
LMAN2L	0	broad.mit.edu	GRCh37	2	97400183	97400183	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-14-0871-01	TCGA-14-0871-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264963.4:c.387C>G	p.Gly129=	p.G129=	ENST00000264963	NM_030805.3	129	ggC/ggG	0			1			C	G	uc002swu.2	protein_coding		CCDS2023.1			387/1047										0	c.(385-387)GGC>GGG			Gene3D:2.60.120.200,Pfam_domain:PF03388,PROSITE_profiles:PS51328,hmmpanther:PTHR12223,hmmpanther:PTHR12223:SF20,Superfamily_domains:SSF49899	lectin, mannose-binding 2-like isoform 2				ENSP00000264963		8-Mar									COSM3408043,COSM3408042	8-Mar	.		ENST00000264963	Transcript			ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding	ENSG00000114988	g.chr2:97400183G>C	19263			LOW								--	--	1																																		LMAN2L_uc002swv.2_Silent_p.G129G|LMAN2L_uc010yut.1_Missense_Mutation_p.A12G|LMAN2L_uc010yuu.1_5'UTR|LMAN2L_uc010yuv.1_5'UTR|LMAN2L_uc010yuw.1_Missense_Mutation_p.A12G|LMAN2L_uc002sww.2_5'UTR|LMAN2L_uc010yux.1_Missense_Mutation_p.A12G	1,1				p.G129G	NM_030805	NP_110432			1,1	LMA2L_HUMAN	LMAN2L	HGNC	Q9H0V9	LMA2L_HUMAN			F5GWW9_HUMAN		3	423	-			UPI000003777C	129			L-type lectin-like.|Lumenal (Potential).		SNV	LMAN2L,missense_variant,p.Ala12Gly,ENST00000426463,;LMAN2L,missense_variant,p.Ala12Gly,ENST00000534882,;LMAN2L,synonymous_variant,p.=,ENST00000264963,NM_030805.3;LMAN2L,synonymous_variant,p.=,ENST00000377079,NM_001142292.1;LMAN2L,5_prime_UTR_variant,,ENST00000537039,;LMAN2L,missense_variant,p.Leu90Val,ENST00000434865,;LMAN2L,missense_variant,p.Leu90Val,ENST00000449221,;LMAN2L,missense_variant,p.Leu90Val,ENST00000440610,;LMAN2L,synonymous_variant,p.=,ENST00000446780,;LMAN2L,3_prime_UTR_variant,,ENST00000434524,;LMAN2L,non_coding_transcript_exon_variant,,ENST00000480869,;	uc002swu.2	c.387C>G	410/2397	3	3			c.387C>G						2	SNP	c.(385-387)GGC>GGG	61	61				0	Broad	lectin, mannose-binding 2-like isoform 2			97400183		0.473	ENSG00000114988	8682	g.chr2:97400183G>C	ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding							2.398084	KEEP	16	23	-1	243	264	16	23	-1	86.324646	243	264	0.076754	1	0	0	0	0	0	0	1	0	--	--		0	C			LMAN2L_uc002swv.2_Silent_p.G129G|LMAN2L_uc010yut.1_Missense_Mutation_p.A12G|LMAN2L_uc010yuu.1_5'UTR|LMAN2L_uc010yuv.1_5'UTR|LMAN2L_uc010yuw.1_Missense_Mutation_p.A12G|LMAN2L_uc002sww.2_5'UTR|LMAN2L_uc010yux.1_Missense_Mutation_p.A12G	141	GBM-14-0871-TP	p.G129G	G	AGATTGCCAAGCCATCCCCAT	NM_030805	NP_110432	97400183	Q9H0V9	LMA2L_HUMAN	0			3	423	-	C	C			Silent	129			L-type lectin-like.|Lumenal (Potential).			
LMBR1	0	broad.mit.edu	GRCh37	7	156521400	156521400	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-2623-01	TCGA-19-2623-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000353442.5:c.853G>C	p.Ala285Pro	p.A285P	ENST00000353442	NM_022458.3	285	Gct/Cct	0			1			G	A/P	uc003wmw.3	protein_coding	YES	CCDS5945.1			853/1473										0	c.(853-855)GCT>CCT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12625:SF1,hmmpanther:PTHR12625,Pfam_domain:PF04791	limb region 1 protein				ENSP00000326604		17-Nov									COSM3411860,COSM3411861	17-Nov	.		ENST00000353442	Transcript	1			integral to membrane	receptor activity	ENSG00000105983	g.chr7:156521400C>G	13243			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=LMBR1_HUMAN&rb=23&re=446&var=A285P	NA	getma.org/?cm=var&var=hg19,7,156521400,C,G&fts=all	A285P	--	--	1																																		LMBR1_uc003wmv.3_Missense_Mutation_p.A133P|LMBR1_uc003wmx.3_Missense_Mutation_p.A133P|LMBR1_uc010lqn.2_Missense_Mutation_p.A326P|LMBR1_uc011kvx.1_Missense_Mutation_p.A264P	1,1	1		probably_damaging(0.987)	p.A285P	NM_022458	NP_071903		deleterious(0)	1,1	LMBR1_HUMAN	LMBR1	HGNC	Q8WVP7	LMBR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)	Q7LDY5_HUMAN		11	1068	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	UPI000005340E	285			Potential.|Cytoplasmic (Potential).		SNV	LMBR1,missense_variant,p.Ala285Pro,ENST00000353442,NM_022458.3;LMBR1,missense_variant,p.Ala133Pro,ENST00000359422,;LMBR1,missense_variant,p.Ala324Pro,ENST00000415428,;LMBR1,missense_variant,p.Ala326Pro,ENST00000354505,;LMBR1,missense_variant,p.Ala264Pro,ENST00000540390,;LMBR1,non_coding_transcript_exon_variant,,ENST00000461603,;LMBR1,3_prime_UTR_variant,,ENST00000448926,;LMBR1,3_prime_UTR_variant,,ENST00000454132,;LMBR1,intron_variant,,ENST00000434503,;LMBR1,upstream_gene_variant,,ENST00000486837,;	uc003wmw.3	c.853G>C	1090/7997	3	3			c.853G>C						7	SNP	c.(853-855)GCT>CCT	49	49				0	Broad	limb region 1 protein			156521400		0.299	ENSG00000105983	8683	g.chr7:156521400C>G		integral to membrane	receptor activity							-16.079552	KEEP	3	6	-1	95	92	3	6	-1	22.85781	95	92	0.049724	1	0	0	0	0	1	0	0	0	--	--		0	G			LMBR1_uc003wmv.3_Missense_Mutation_p.A133P|LMBR1_uc003wmx.3_Missense_Mutation_p.A133P|LMBR1_uc010lqn.2_Missense_Mutation_p.A326P|LMBR1_uc011kvx.1_Missense_Mutation_p.A264P	163	GBM-19-2623-TP	p.A285P	C	CATGCTGAAGCCTTTTTTCGC	NM_022458	NP_071903	156521400	Q8WVP7	LMBR1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)	11	1068	-	G	G	Ovarian(565;0.218)	all_hematologic(28;0.0592)	Missense_Mutation	285			Potential.|Cytoplasmic (Potential).			
LMBR1	0	broad.mit.edu	GRCh37	7	156556439	156556439	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4927-01	TCGA-76-4927-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000353442.5:c.474G>A	p.Ala158=	p.A158=	ENST00000353442	NM_022458.3	158	gcG/gcA	0			1			T	A	uc003wmw.3	protein_coding	YES	CCDS5945.1			474/1473										0	c.(472-474)GCG>GCA			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR12625:SF1,hmmpanther:PTHR12625,Pfam_domain:PF04791	limb region 1 protein				ENSP00000326604		17-Jun	0.00014		0.0013			3.00E-05			rs201832150,COSM3411862,COSM3411863	17-Jun	common_variant		ENST00000353442	Transcript	1			integral to membrane	receptor activity	ENSG00000105983	g.chr7:156556439C>T	13243			LOW								--	--	1																																		LMBR1_uc003wmv.3_Silent_p.A6A|LMBR1_uc003wmx.3_Silent_p.A6A|LMBR1_uc010lqn.2_Silent_p.A158A|LMBR1_uc011kvx.1_Silent_p.A137A	0,1,1	1			p.A158A	NM_022458	NP_071903			0,1,1	LMBR1_HUMAN	LMBR1	HGNC	Q8WVP7	LMBR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)	Q7LDY5_HUMAN		6	689	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	UPI000005340E	158			Helical; (Potential).		SNV	LMBR1,synonymous_variant,p.=,ENST00000353442,NM_022458.3;LMBR1,synonymous_variant,p.=,ENST00000359422,;LMBR1,synonymous_variant,p.=,ENST00000415428,;LMBR1,synonymous_variant,p.=,ENST00000354505,;LMBR1,synonymous_variant,p.=,ENST00000540390,;LMBR1,non_coding_transcript_exon_variant,,ENST00000461469,;LMBR1,non_coding_transcript_exon_variant,,ENST00000430278,;LMBR1,missense_variant,p.Val64Ile,ENST00000434503,;LMBR1,3_prime_UTR_variant,,ENST00000448926,;LMBR1,3_prime_UTR_variant,,ENST00000454132,;LMBR1,3_prime_UTR_variant,,ENST00000444719,;LMBR1,3_prime_UTR_variant,,ENST00000434278,;LMBR1,upstream_gene_variant,,ENST00000477983,;	uc003wmw.3	c.474G>A	711/7997	2	2			c.474G>A						7	SNP	c.(472-474)GCG>GCA	39	39				0	Broad	limb region 1 protein			156556439		0.378	ENSG00000105983	8683	g.chr7:156556439C>T		integral to membrane	receptor activity							178.695162	KEEP	50	44	-1	140	169	50	44	-1	202.621627	140	169	0.22449	1	0	0	0	0	0	0	1	0	--	--		0	T			LMBR1_uc003wmv.3_Silent_p.A6A|LMBR1_uc003wmx.3_Silent_p.A6A|LMBR1_uc010lqn.2_Silent_p.A158A|LMBR1_uc011kvx.1_Silent_p.A137A	267	GBM-76-4927-TP	p.A158A	C	GAATGAGTAACGCAAGAAGAA	NM_022458	NP_071903	156556439	Q8WVP7	LMBR1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)	6	689	-	T	T	Ovarian(565;0.218)	all_hematologic(28;0.0592)	Silent	158			Helical; (Potential).			
LMBR1	64327		GRCh37	7	156518202	156518202	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000353442.5:c.1085C>A	p.Ser362Tyr	p.S362Y	ENST00000353442	NM_022458.3	362	tCt/tAt	0																																																																																																																																																																																																																																												
LMBRD1	55788	broad.mit.edu	GRCh37	6	70411840	70411840	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-06-5417-01	TCGA-06-5417-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370577.3:c.921C>G	p.Val307=	p.V307=	ENST00000370577	NM_018368.3	307	gtC/gtG	0			1			C	V	uc003pfa.2	protein_coding	YES	CCDS4969.1			921/1623									ovary(1)	1	c.(919-921)GTC>GTG			Transmembrane_helices:TMhelix,hmmpanther:PTHR16130:SF2,hmmpanther:PTHR16130	liver regeneration p-53 related protein				ENSP00000359609		16-Oct									COSM2153316	16-Oct	.		ENST00000370577	Transcript	1		interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding	ENSG00000168216	g.chr6:70411840G>C	23038			LOW								--	--	1																																		LMBRD1_uc003pey.2_Silent_p.V103V|LMBRD1_uc003pez.2_Silent_p.V234V|LMBRD1_uc010kal.2_Silent_p.V234V|LMBRD1_uc003pfb.2_RNA	1	1			p.V307V	NM_018368	NP_060838			1	LMBD1_HUMAN	LMBRD1	HGNC	Q9NUN5	LMBD1_HUMAN					10	1036	-			UPI000003ED25	307			Helical; Name=6; (Potential).		SNV	LMBRD1,synonymous_variant,p.=,ENST00000370577,NM_018368.3;LMBRD1,synonymous_variant,p.=,ENST00000370570,;LMBRD1,synonymous_variant,p.=,ENST00000472827,;NPM1P37,downstream_gene_variant,,ENST00000403105,;	uc003pfa.2	c.921C>G	1151/2209	3	3			c.921C>G						6	SNP	c.(919-921)GTC>GTG	1	1			ovary(1)	1	Broad	liver regeneration p-53 related protein			70411840		0.269	ENSG00000168216	8685	g.chr6:70411840G>C	interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding							171.067309	KEEP	17	33	-1	23	38	17	33	-1	171.245242	23	38	0.454545	1	0	0	0	0	0	0	1	0	--	--		0	C			LMBRD1_uc003pey.2_Silent_p.V103V|LMBRD1_uc003pez.2_Silent_p.V234V|LMBRD1_uc010kal.2_Silent_p.V234V|LMBRD1_uc003pfb.2_RNA	99	GBM-06-5417-TP	p.V307V	G	ATATTCCCCAGACGATCTAAA	NM_018368	NP_060838	70411840	Q9NUN5	LMBD1_HUMAN	0			10	1036	-	C	C			Silent	307			Helical; Name=6; (Potential).			
LMCD1	0	broad.mit.edu	GRCh37	3	8574487	8574487	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5947-01	TCGA-19-5947-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000157600.3:c.107C>T	p.Ser36Leu	p.S36L	ENST00000157600	NM_014583.3	36	tCg/tTg	0		T:0	1	T:0.0014		T	S/L	uc003bqq.2	protein_coding	YES	CCDS33688.1			107/1098									ovary(1)	1	c.(106-108)TCG>TTG			hmmpanther:PTHR24211:SF0,hmmpanther:PTHR24211	LIM and cysteine-rich domains 1		T:0		ENSP00000157600	T:0	6-Feb	0.00056		0.00545		0.000151	4.50E-05	0.0011		rs199520704,COSM2156526	6-Feb	common_variant		ENST00000157600	Transcript		T:0.0002	positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding	ENSG00000071282	g.chr3:8574487C>T	6633			MODERATE		1.65	low	getma.org/?cm=msa&ty=f&p=LMCD1_HUMAN&rb=1&re=97&var=S36L	NA	getma.org/?cm=var&var=hg19,3,8574487,C,T&fts=all	S36L	--	--	1																																		LMCD1_uc011atd.1_Intron|LMCD1_uc011ate.1_Silent_p.F9F	0,1	1		benign(0.004)	p.S36L	NM_014583	NP_055398	T:0	tolerated(0.06)	0,1	LMCD1_HUMAN	LMCD1	HGNC	Q9NZU5	LMCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.124)	B4DG80_HUMAN		2	221	+			UPI000012E774	36			Cys-rich.		SNV	LMCD1,missense_variant,p.Ser36Leu,ENST00000157600,NM_014583.3;LMCD1,missense_variant,p.Ser42Leu,ENST00000415597,;LMCD1,missense_variant,p.Ser36Leu,ENST00000535732,NM_001278235.1;LMCD1,synonymous_variant,p.=,ENST00000397386,NM_001278234.1;LMCD1,intron_variant,,ENST00000454244,NM_001278233.1;LMCD1,upstream_gene_variant,,ENST00000426878,;LMCD1-AS1,intron_variant,,ENST00000439407,;LMCD1,missense_variant,p.Ser36Leu,ENST00000456506,;LMCD1,non_coding_transcript_exon_variant,,ENST00000470776,;	uc003bqq.2	c.107C>T	339/1851	2	2			c.107C>T						3	SNP	c.(106-108)TCG>TTG	21	21			ovary(1)	1	Broad	LIM and cysteine-rich domains 1			8574487		0.537	ENSG00000071282	8687	g.chr3:8574487C>T	positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding							107.770916	KEEP	30	23	-1	93	77	30	23	-1	119.50518	93	77	0.242268	1	0	0	0	0	1	0	0	0	--	--		0	T			LMCD1_uc011atd.1_Intron|LMCD1_uc011ate.1_Silent_p.F9F	169	GBM-19-5947-TP	p.S36L	C	GGGACGTGTTCGGGCTTCGAG	NM_014583	NP_055398	8574487	Q9NZU5	LMCD1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(96;0.124)	2	221	+	T	T			Missense_Mutation	36			Cys-rich.			
LMO7	0	broad.mit.edu	GRCh37	13	76381854	76381854	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-14-1034-01	TCGA-14-1034-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000465261.2:c.736C>T	p.Arg246Ter	p.R246*	ENST00000465261	NM_015842.2	246	Cga/Tga	0			1			T	R/*	uc001vjv.2	protein_coding	YES	CCDS53876.1			736/4158									large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5	c.(736-738)CGA>TGA			hmmpanther:PTHR15551,hmmpanther:PTHR15551:SF4	LIM domain only 7 isoform 2				ENSP00000433352		27-Jul									COSM3399447,COSM3399446	27-Jul	.		ENST00000465261	Transcript				cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	ENSG00000136153	g.chr13:76381854C>T	6646			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,13,76381854,C,T&fts=all	R531*	--	--	1																																		LMO7_uc010thv.1_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc010thw.1_Intron|LMO7_uc001vjw.1_Nonsense_Mutation_p.R152*	1,1	1			p.R246*	NM_015842	NP_056667			1,1		LMO7	HGNC	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	E9PRJ0_HUMAN,E9PLH4_HUMAN		7	1496	+		Breast(118;0.0992)	UPI0001929501	531					SNV	LMO7,stop_gained,p.Arg531Ter,ENST00000357063,;LMO7,stop_gained,p.Arg531Ter,ENST00000377534,;LMO7,stop_gained,p.Arg246Ter,ENST00000321797,;LMO7,stop_gained,p.Arg246Ter,ENST00000465261,NM_015842.2;LMO7,stop_gained,p.Arg155Ter,ENST00000447038,;LMO7,intron_variant,,ENST00000341547,NM_005358.5;LMO7,intron_variant,,ENST00000526202,;LMO7,intron_variant,,ENST00000377499,;LMO7,intron_variant,,ENST00000497947,;LMO7,intron_variant,,ENST00000525373,;LMO7,intron_variant,,ENST00000489941,;LMO7,downstream_gene_variant,,ENST00000526371,;LMO7,downstream_gene_variant,,ENST00000534657,;LMO7,downstream_gene_variant,,ENST00000526528,;RP11-29G8.3,downstream_gene_variant,,ENST00000563635,;LMO7,downstream_gene_variant,,ENST00000533305,;LMO7,downstream_gene_variant,,ENST00000465309,;	uc001vjv.2	c.736C>T	1496/5580	5	2			c.736C>T						13	SNP	c.(736-738)CGA>TGA	32	32			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5	Broad	LIM domain only 7 isoform 2			76381854		0.413	ENSG00000136153	8698	g.chr13:76381854C>T		cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding							171.808862	KEEP	26	27	-1	21	22	26	27	-1	172.092297	21	22	0.55914	1	0	0	0	0	0	1	0	0	--	--		0	T			LMO7_uc010thv.1_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc010thw.1_Intron|LMO7_uc001vjw.1_Nonsense_Mutation_p.R152*	142	GBM-14-1034-TP	p.R246*	C	ATATGTTCTCCGAGCTTTTGA	NM_015842	NP_056667	76381854	Q8WWI1	LMO7_HUMAN	0		GBM - Glioblastoma multiforme(99;0.0109)	7	1496	+	T	T		Breast(118;0.0992)	Nonsense_Mutation	531						
LMOD2	0	broad.mit.edu	GRCh37	7	123302696	123302696	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000458573.2:c.1056G>A	p.Met352Ile	p.M352I	ENST00000458573	NM_207163.1	352	atG/atA	0			1			A	M/I	uc003vky.2	protein_coding	YES	CCDS47693.1			1056/1644										0	c.(1054-1056)ATG>ATA			Superfamily_domains:SSF52047,Gene3D:3.80.10.10,hmmpanther:PTHR10901:SF12,hmmpanther:PTHR10901	leiomodin 2 (cardiac)				ENSP00000411932		3-Feb									COSM223204	3-Feb	.		ENST00000458573	Transcript				cytoskeleton	actin binding|tropomyosin binding	ENSG00000170807	g.chr7:123302696G>A	6648			MODERATE		2.275	medium	getma.org/?cm=msa&ty=f&p=LMOD2_HUMAN&rb=341&re=540&var=M352I	NA	getma.org/?cm=var&var=hg19,7,123302696,G,A&fts=all	M352I	--	--	1																																			1	1		benign(0.391)	p.M352I	NM_207163	NP_997046		deleterious(0.03)	1	LMOD2_HUMAN	LMOD2	HGNC	Q6P5Q4	LMOD2_HUMAN			B4DUL7_HUMAN		2	1213	+			UPI0001572CCA	352					SNV	LMOD2,missense_variant,p.Met352Ile,ENST00000458573,NM_207163.1;LMOD2,intron_variant,,ENST00000456238,;	uc003vky.2	c.1056G>A	1213/2346	2	2			c.1056G>A						7	SNP	c.(1054-1056)ATG>ATA	24	24				0	Broad	leiomodin 2 (cardiac)			123302696		0.473	ENSG00000170807	8700	g.chr7:123302696G>A		cytoskeleton	actin binding|tropomyosin binding							194.477895	KEEP	36	39	-1	102	95	36	39	-1	206.28893	102	95	0.275862	1	0	0	0	0	1	0	0	0	--	--		0	A				139	GBM-14-0817-TP	p.M352I	G	CAAGAAATATGGATAAACAGA	NM_207163	NP_997046	123302696	Q6P5Q4	LMOD2_HUMAN	0			2	1213	+	A	A			Missense_Mutation	352						
LMTK3	114783		GRCh37	19	49013377	49013377	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000270238.3:c.351G>A	p.Ala117=	p.A117=	ENST00000270238	NM_001080434.1	117	gcG/gcA	0																																																																																																																																																																																																																																												
LMX1A	0	broad.mit.edu	GRCh37	1	165177351	165177351	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-12-3653-01	TCGA-12-3653-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294816.2:c.766C>T	p.Arg256Ter	p.R256*	ENST00000294816	NM_001174069.1	256	Cga/Tga	0			1			A	R/*	uc001gcy.1	protein_coding		CCDS1247.1			766/1149									central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1)	5	c.(766-768)CGA>TGA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF88,Low_complexity_(Seg):seg,SMART_domains:SM00389	LIM homeobox transcription factor 1, alpha				ENSP00000294816		9-Jul									COSM3399949	9-Jul	.		ENST00000294816	Transcript				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000162761	g.chr1:165177351G>A	6653			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,165177351,G,A&fts=all	R256*	--	--	1																																		LMX1A_uc001gcz.1_Nonsense_Mutation_p.R256*|LMX1A_uc001gcw.1_5'UTR|LMX1A_uc001gcx.1_Nonsense_Mutation_p.R7*	1				p.R256*	NM_177398	NP_796372			1	LMX1A_HUMAN	LMX1A	HGNC	Q8TE12	LMX1A_HUMAN			Q6NZ39_HUMAN		6	987	-	all_hematologic(923;0.248)		UPI000012E793	256			Gln-rich.		SNV	LMX1A,stop_gained,p.Arg256Ter,ENST00000342310,NM_177398.3;LMX1A,stop_gained,p.Arg256Ter,ENST00000294816,NM_001174069.1;LMX1A,stop_gained,p.Arg256Ter,ENST00000367893,;RP11-38C18.2,upstream_gene_variant,,ENST00000457106,;LMX1A,non_coding_transcript_exon_variant,,ENST00000489443,;	uc001gcy.1	c.766C>T	960/3350	5	2			c.766C>T						1	SNP	c.(766-768)CGA>TGA	32	32			central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1)	5	Broad	LIM homeobox transcription factor 1, alpha			165177351		0.562	ENSG00000162761	8704	g.chr1:165177351G>A		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							80.695464	KEEP	21	10	-1	18	21	21	10	-1	80.728523	18	21	0.474576	1	0	0	0	0	0	1	0	0	--	--		0	A			LMX1A_uc001gcz.1_Nonsense_Mutation_p.R256*|LMX1A_uc001gcw.1_5'UTR|LMX1A_uc001gcx.1_Nonsense_Mutation_p.R7*	128	GBM-12-3653-TP	p.R256*	G	TGCTGCTGTCGCCTGGCCAGC	NM_177398	NP_796372	165177351	Q8TE12	LMX1A_HUMAN	0			6	987	-	A	A	all_hematologic(923;0.248)		Nonsense_Mutation	256			Gln-rich.			
LMX1B	0	broad.mit.edu	GRCh37	9	129453336	129453336	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-4931-01	TCGA-76-4931-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373474.4:c.548A>G	p.Glu183Gly	p.E183G	ENST00000373474		183	gAg/gGg	0			1			G	E/G	uc004bqj.2	protein_coding		CCDS55342.1			548/1209										0	c.(478-480)GAG>GGG			Low_complexity_(Seg):seg,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF96	LIM homeobox transcription factor 1, beta				ENSP00000362573		8-Mar									COSM3413336,COSM3413334,COSM3413335	8-Mar	.	Nail-Patella_Syndrome	ENST00000373474	Transcript	1		dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000136944	g.chr9:129453336A>G	6654			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=LMX1B_HUMAN&rb=151&re=196&var=E160G	NA	getma.org/?cm=var&var=hg19,9,129453336,A,G&fts=all	E160G	--	--	1																																		LMX1B_uc004bqi.2_Missense_Mutation_p.E160G|LMX1B_uc011maa.1_Missense_Mutation_p.E160G	1,1,1			benign(0.023)	p.E160G	NM_002316	NP_002307		tolerated(0.35)	1,1,1	LMX1B_HUMAN	LMX1B	HGNC	O60663	LMX1B_HUMAN			Q9UE66_HUMAN,Q6ISE0_HUMAN		3	529	+			UPI00004588C9	160					SNV	LMX1B,missense_variant,p.Glu183Gly,ENST00000355497,NM_001174146.1;LMX1B,missense_variant,p.Glu160Gly,ENST00000425646,NM_001174147.1,NM_002316.3;LMX1B,missense_variant,p.Glu183Gly,ENST00000373474,;LMX1B,missense_variant,p.Glu160Gly,ENST00000561065,;LMX1B,missense_variant,p.Glu183Gly,ENST00000526117,;	uc004bqj.2	c.479A>G	555/1314	3	3			c.479A>G						9	SNP	c.(478-480)GAG>GGG	15	15				0	Broad	LIM homeobox transcription factor 1, beta			129453336	Nail-Patella_Syndrome	0.667	ENSG00000136944	8705	g.chr9:129453336A>G	dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	Pancreas(110;1796 2278 18357 20466)			Pancreas(110;1796 2278 18357 20466)			18.941218	KEEP	4	3	-1	6	10	4	3	-1	19.806513	6	10	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	G			LMX1B_uc004bqi.2_Missense_Mutation_p.E160G|LMX1B_uc011maa.1_Missense_Mutation_p.E160G	270	GBM-76-4931-TP	p.E160G	A	AGCCCCGACGAGTCCGACTCC	NM_002316	NP_002307	129453336	O60663	LMX1B_HUMAN	0			3	529	+	G	G			Missense_Mutation	160						
LNPEP	0	broad.mit.edu	GRCh37	5	96341853	96341853	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-12-3653-01	TCGA-12-3653-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000231368.5:c.1862T>C	p.Val621Ala	p.V621A	ENST00000231368	NM_005575.2	621	gTt/gCt	0			1			C	V/A	uc003kmv.1	protein_coding	YES	CCDS4087.1			1862/3078									ovary(3)|breast(1)	4	c.(1861-1863)GTT>GCT			Superfamily_domains:SSF55486,Gene3D:1.10.390.10,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF42	leucyl/cystinyl aminopeptidase isoform 1				ENSP00000231368		18-Oct									COSM3410492	18-Oct	.		ENST00000231368	Transcript			cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	ENSG00000113441	g.chr5:96341853T>C	6656			MODERATE		1.315	low	getma.org/?cm=msa&ty=f&p=LCAP_HUMAN&rb=553&re=688&var=V621A	getma.org/pdb.php?prot=LCAP_HUMAN&from=553&to=688&var=V621A	getma.org/?cm=var&var=hg19,5,96341853,T,C&fts=all	V621A	--	--	1																																		LNPEP_uc003kmw.1_Missense_Mutation_p.V607A	1	1		benign(0.188)	p.V621A	NM_005575	NP_005566		deleterious(0.04)	1	LCAP_HUMAN	LNPEP	HGNC	Q9UIQ6	LCAP_HUMAN		COAD - Colon adenocarcinoma(37;0.072)			10	2376	+		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)	UPI000013C94B	621			Extracellular (Potential).		SNV	LNPEP,missense_variant,p.Val621Ala,ENST00000231368,NM_005575.2;LNPEP,missense_variant,p.Val607Ala,ENST00000395770,NM_175920.3;LNPEP,non_coding_transcript_exon_variant,,ENST00000473914,;	uc003kmv.1	c.1862T>C	2554/12752	3	3			c.1862T>C						5	SNP	c.(1861-1863)GTT>GCT	9	9			ovary(3)|breast(1)	4	Broad	leucyl/cystinyl aminopeptidase isoform 1			96341853		0.333	ENSG00000113441	8707	g.chr5:96341853T>C	cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding							-28.896306	KEEP	1	2	-1	67	77	1	2	-1	6.358535	67	77	0.021739	1	0	0	0	0	1	0	0	0	--	--		0	C			LNPEP_uc003kmw.1_Missense_Mutation_p.V607A	128	GBM-12-3653-TP	p.V621A	T	TTAGTGACTGTTCAAAAGAAA	NM_005575	NP_005566	96341853	Q9UIQ6	LCAP_HUMAN	0		COAD - Colon adenocarcinoma(37;0.072)	10	2376	+	C	C		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)	Missense_Mutation	621			Extracellular (Potential).			
LONP2	0	broad.mit.edu	GRCh37	16	48303999	48303999	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285737.4:c.1055G>A	p.Arg352Lys	p.R352K	ENST00000285737	NM_031490.2	352	aGa/aAa	0			1			A	R/K	uc002efi.1	protein_coding	YES	CCDS10734.1			1055/2559										0	c.(1054-1056)AGA>AAA			Gene3D:3.40.50.300,HAMAP:MF_03121,PIRSF_domain:PIRSF001174,hmmpanther:PTHR10046,hmmpanther:PTHR10046:SF24,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00763	peroxisomal LON protease-like				ENSP00000285737		15-Jul									COSM3402337	15-Jul	.		ENST00000285737	Transcript			misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	ENSG00000102910	g.chr16:48303999G>A	20598			MODERATE		3.235	medium	getma.org/?cm=msa&ty=f&p=LONP2_HUMAN&rb=221&re=370&var=R352K	getma.org/pdb.php?prot=LONP2_HUMAN&from=221&to=370&var=R352K	getma.org/?cm=var&var=hg19,16,48303999,G,A&fts=all	R352K	--	--	1																																		LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.R308K	1	1		probably_damaging(0.996)	p.R352K	NM_031490	NP_113678		deleterious(0)	1	LONP2_HUMAN	LONP2	HGNC	Q86WA8	LONP2_HUMAN			Q9BU35_HUMAN		7	1144	+			UPI000000DCD1	352					SNV	LONP2,missense_variant,p.Arg352Lys,ENST00000285737,NM_031490.2;LONP2,missense_variant,p.Arg308Lys,ENST00000535754,;LONP2,missense_variant,p.Arg308Lys,ENST00000416006,;LONP2,missense_variant,p.Arg57Lys,ENST00000570174,;LONP2,3_prime_UTR_variant,,ENST00000566755,;	uc002efi.1	c.1055G>A	1148/8199	2	2			c.1055G>A						16	SNP	c.(1054-1056)AGA>AAA	24	24				0	Broad	peroxisomal LON protease-like			48303999		0.443	ENSG00000102910	8726	g.chr16:48303999G>A	misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity							-10.114506	KEEP	3	3	-1	49	51	3	3	-1	11.368406	49	51	0.05	1	0	0	0	0	1	0	0	0	--	--		0	A			LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.R308K	120	GBM-12-0619-TP	p.R352K	G	TTGAAGAAAAGAGTACTGGAA	NM_031490	NP_113678	48303999	Q86WA8	LONP2_HUMAN	0			7	1144	+	A	A			Missense_Mutation	352						
LONRF3	0	broad.mit.edu	GRCh37	X	118108897	118108897	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371628.3:c.154C>T	p.Arg52Trp	p.R52W	ENST00000371628	NM_001031855.1	52	Cgg/Tgg	0			1			T	R/W	uc004eqw.2	protein_coding	YES	CCDS35374.1			154/2280									breast(1)|central_nervous_system(1)	2	c.(154-156)CGG>TGG			hmmpanther:PTHR23327,hmmpanther:PTHR23327:SF7	LON peptidase N-terminal domain and ring finger				ENSP00000360690		11-Jan									COSM3405875,COSM3405874	11-Jan	.		ENST00000371628	Transcript			proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	ENSG00000175556	g.chrX:118108897C>T	21152			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=LONF3_HUMAN&rb=1&re=98&var=R52W	NA	getma.org/?cm=var&var=hg19,X,118108897,C,T&fts=all	R52W	--	--	1																																		LONRF3_uc004eqx.2_Missense_Mutation_p.R52W|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_5'Flank	1,1	1		possibly_damaging(0.487)	p.R52W	NM_001031855	NP_001027026		deleterious_low_confidence(0.01)	1,1	LONF3_HUMAN	LONRF3	HGNC	Q496Y0	LONF3_HUMAN					1	185	+			UPI0000211E03	52					SNV	LONRF3,missense_variant,p.Arg52Trp,ENST00000304778,NM_024778.4;LONRF3,missense_variant,p.Arg52Trp,ENST00000371628,NM_001031855.1;LONRF3,upstream_gene_variant,,ENST00000422289,;LONRF3,upstream_gene_variant,,ENST00000439603,;LONRF3,upstream_gene_variant,,ENST00000472173,;LONRF3,missense_variant,p.Arg52Trp,ENST00000481285,;	uc004eqw.2	c.154C>T	185/2550	2	2			c.154C>T						23	SNP	c.(154-156)CGG>TGG	25	25			breast(1)|central_nervous_system(1)	2	Broad	LON peptidase N-terminal domain and ring finger			118108897		0.677	ENSG00000175556	8729	g.chrX:118108897C>T	proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding							3.710649	KEEP	1	2	-1	12	9	1	2	-1	6.765667	12	9	0.130435	1	0	0	0	0	1	0	0	0	--	--		0	T			LONRF3_uc004eqx.2_Missense_Mutation_p.R52W|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_5'Flank	122	GBM-12-0692-TP	p.R52W	C	TCTACCGACGCGGGAGCCAGA	NM_001031855	NP_001027026	118108897	Q496Y0	LONF3_HUMAN	0			1	185	+	T	T			Missense_Mutation	52						
LONRF3	0	broad.mit.edu	GRCh37	X	118145848	118145848	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-16-1045-01	TCGA-16-1045-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371628.3:c.1723T>A	p.Phe575Ile	p.F575I	ENST00000371628	NM_001031855.1	575	Ttt/Att	0			1			A	F/I	uc004eqw.2	protein_coding	YES	CCDS35374.1			1723/2280									breast(1)|central_nervous_system(1)	2	c.(1723-1725)TTT>ATT			Pfam_domain:PF02190,hmmpanther:PTHR23327,hmmpanther:PTHR23327:SF7,SMART_domains:SM00464,Superfamily_domains:SSF88697	LON peptidase N-terminal domain and ring finger				ENSP00000360690		11-Aug									COSM3405877,COSM3405876,COSM3405878	11-Aug	.		ENST00000371628	Transcript			proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	ENSG00000175556	g.chrX:118145848T>A	21152			MODERATE		3.46	medium	getma.org/?cm=msa&ty=f&p=LONF3_HUMAN&rb=555&re=752&var=F575I	NA	getma.org/?cm=var&var=hg19,X,118145848,T,A&fts=all	F575I	--	--	1																																		LONRF3_uc004eqx.2_Missense_Mutation_p.F534I|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_Missense_Mutation_p.F319I	1,1,1	1		probably_damaging(0.999)	p.F575I	NM_001031855	NP_001027026		deleterious(0)	1,1,1	LONF3_HUMAN	LONRF3	HGNC	Q496Y0	LONF3_HUMAN					8	1754	+			UPI0000211E03	575			Lon.		SNV	LONRF3,missense_variant,p.Phe534Ile,ENST00000304778,NM_024778.4;LONRF3,missense_variant,p.Phe575Ile,ENST00000371628,NM_001031855.1;LONRF3,missense_variant,p.Phe319Ile,ENST00000422289,;LONRF3,missense_variant,p.Phe341Ile,ENST00000439603,;LONRF3,non_coding_transcript_exon_variant,,ENST00000472173,;LONRF3,missense_variant,p.Phe575Ile,ENST00000481285,;	uc004eqw.2	c.1723T>A	1754/2550	2	2			c.1723T>A						23	SNP	c.(1723-1725)TTT>ATT	45	45			breast(1)|central_nervous_system(1)	2	Broad	LON peptidase N-terminal domain and ring finger			118145848		0.478	ENSG00000175556	8729	g.chrX:118145848T>A	proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding							291.435356	KEEP	71	53	-1	172	175	71	53	-1	312.533342	172	175	0.264286	1	0	0	0	0	1	0	0	0	--	--		0	A			LONRF3_uc004eqx.2_Missense_Mutation_p.F534I|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_Missense_Mutation_p.F319I	157	GBM-16-1045-TP	p.F575I	T	CCTGCACATCTTTGAGCCTTG	NM_001031855	NP_001027026	118145848	Q496Y0	LONF3_HUMAN	0			8	1754	+	A	A			Missense_Mutation	575			Lon.			
LOXL1	0	broad.mit.edu	GRCh37	15	74238821	74238821	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-1831-01	TCGA-27-1831-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261921.7:c.1275C>T	p.Arg425=	p.R425=	ENST00000261921	NM_005576.2	425	cgC/cgT	0	T:0		1			T	R	uc002awc.1	protein_coding	YES	CCDS10253.1			1275/1725										0	c.(1273-1275)CGC>CGT			Prints_domain:PR00074,Pfam_domain:PF01186,hmmpanther:PTHR19331:SF4,hmmpanther:PTHR19331	lysyl oxidase-like 1 preproprotein			T:0.0001	ENSP00000261921		7-Mar	8.24E-06					1.80E-05			rs368632424,COSM3401910	7-Mar	.		ENST00000261921	Transcript	1		protein deamination	extracellular space	copper ion binding	ENSG00000129038	g.chr15:74238821C>T	6665			LOW								--	--	1																																		LOXL1_uc002awd.1_5'Flank	0,1	1			p.R425R	NM_005576	NP_005567			0,1	LOXL1_HUMAN	LOXL1	HGNC	Q08397	LOXL1_HUMAN					3	1611	+			UPI000013D224	425			Lysyl-oxidase like.		SNV	LOXL1,synonymous_variant,p.=,ENST00000261921,NM_005576.2;LOXL1,upstream_gene_variant,,ENST00000567675,;LOXL1,3_prime_UTR_variant,,ENST00000566011,;LOXL1,non_coding_transcript_exon_variant,,ENST00000566530,;LOXL1,upstream_gene_variant,,ENST00000562548,;	uc002awc.1	c.1275C>T	1601/2351	2	2			c.1275C>T						15	SNP	c.(1273-1275)CGC>CGT	30	30				0	Broad	lysyl oxidase-like 1 preproprotein			74238821		0.692	ENSG00000129038	8731	g.chr15:74238821C>T	protein deamination	extracellular space	copper ion binding							39.072466	KEEP	6	9	-1	7	5	6	9	-1	39.081031	7	5	0.52	1	0	0	0	0	0	0	1	0	--	--		0	T			LOXL1_uc002awd.1_5'Flank	190	GBM-27-1831-TP	p.R425R	C	TCCCCCAGCGCGTGAAGAACC	NM_005576	NP_005567	74238821	Q08397	LOXL1_HUMAN	0			3	1611	+	T	T			Silent	425			Lysyl-oxidase like.			
LOXL3	0	broad.mit.edu	GRCh37	2	74779634	74779634	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01	TCGA-15-0742-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264094.3:c.128G>A	p.Arg43Gln	p.R43Q	ENST00000264094	NM_032603.2	43	cGg/cAg	0			1			T	R/Q	uc002smp.1	protein_coding	YES	CCDS1953.1			128/2262										0	c.(127-129)CGG>CAG			hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF11,Gene3D:3.10.250.10,Superfamily_domains:SSF56487	lysyl oxidase-like 3 precursor				ENSP00000264094		14-Feb	1.65E-05	0.000111				1.59E-05			rs765433257,COSM3407991	14-Feb	.		ENST00000264094	Transcript				extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	ENSG00000115318	g.chr2:74779634C>T	13869			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=LOXL3_HUMAN&rb=1&re=49&var=R43Q	NA	getma.org/?cm=var&var=hg19,2,74779634,C,T&fts=all	R43Q	--	--	1																																		LOXL3_uc002smo.1_5'Flank|LOXL3_uc010ffm.1_Missense_Mutation_p.R43Q|LOXL3_uc002smq.1_Missense_Mutation_p.R43Q|LOXL3_uc010ffn.1_Missense_Mutation_p.R43Q|DOK1_uc002smr.2_Intron|DOK1_uc002sms.2_5'Flank|DOK1_uc010ffo.2_5'Flank|DOK1_uc002smt.2_5'Flank|DOK1_uc002smu.2_5'Flank|DOK1_uc010yrz.1_5'Flank|DOK1_uc002smv.2_5'Flank|DOK1_uc002smw.1_5'Flank	0,1	1		benign(0.011)	p.R43Q	NM_032603	NP_115992		tolerated(1)	0,1	LOXL3_HUMAN	LOXL3	HGNC	P58215	LOXL3_HUMAN			Q8N505_HUMAN,Q53TY1_HUMAN,Q2EHP2_HUMAN,C9J5M1_HUMAN		2	200	-			UPI0000044959	43					SNV	LOXL3,missense_variant,p.Arg43Gln,ENST00000264094,NM_032603.2;LOXL3,missense_variant,p.Arg43Gln,ENST00000409549,;LOXL3,missense_variant,p.Arg43Gln,ENST00000409249,;LOXL3,missense_variant,p.Arg43Gln,ENST00000393937,;LOXL3,missense_variant,p.Arg43Gln,ENST00000409986,;LOXL3,missense_variant,p.Arg43Gln,ENST00000413469,;DOK1,intron_variant,,ENST00000409429,NM_001197260.1;DOK1,upstream_gene_variant,,ENST00000233668,NM_001381.3;DOK1,upstream_gene_variant,,ENST00000340004,;LOXL3,upstream_gene_variant,,ENST00000420535,;LOXL3,non_coding_transcript_exon_variant,,ENST00000484369,;DOK1,intron_variant,,ENST00000485132,;DOK1,upstream_gene_variant,,ENST00000480318,;DOK1,upstream_gene_variant,,ENST00000489958,;DOK1,upstream_gene_variant,,ENST00000496966,;LOXL3,upstream_gene_variant,,ENST00000481835,;DOK1,upstream_gene_variant,,ENST00000488613,;LOXL3,upstream_gene_variant,,ENST00000470907,;DOK1,upstream_gene_variant,,ENST00000464613,;DOK1,upstream_gene_variant,,ENST00000429631,;DOK1,upstream_gene_variant,,ENST00000482206,;DOK1,upstream_gene_variant,,ENST00000474924,;DOK1,upstream_gene_variant,,ENST00000475191,;	uc002smp.1	c.128G>A	200/3502	1	1			c.128G>A						2	SNP	c.(127-129)CGG>CAG	11	11				0	Broad	lysyl oxidase-like 3 precursor			74779634		0.662	ENSG00000115318	8733	g.chr2:74779634C>T		extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity							84.578391	KEEP	27	26	-1	25	31	27	26	-1	84.597975	25	31	0.52	1	0	0	0	0	1	0	0	0	--	--		0	T			LOXL3_uc002smo.1_5'Flank|LOXL3_uc010ffm.1_Missense_Mutation_p.R43Q|LOXL3_uc002smq.1_Missense_Mutation_p.R43Q|LOXL3_uc010ffn.1_Missense_Mutation_p.R43Q|DOK1_uc002smr.2_Intron|DOK1_uc002sms.2_5'Flank|DOK1_uc010ffo.2_5'Flank|DOK1_uc002smt.2_5'Flank|DOK1_uc002smu.2_5'Flank|DOK1_uc010yrz.1_5'Flank|DOK1_uc002smv.2_5'Flank|DOK1_uc002smw.1_5'Flank	153	GBM-15-0742-TP	p.R43Q	C	CAGCCGGAACCGAAGCCCCTG	NM_032603	NP_115992	74779634	P58215	LOXL3_HUMAN	0			2	200	-	T	T			Missense_Mutation	43						
LPA	0	broad.mit.edu	GRCh37	6	161006177	161006177	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0688-01	TCGA-12-0688-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316300.5:c.4190G>A	p.Arg1397Gln	p.R1397Q	ENST00000316300		1397	cGa/cAa	0	T:0.0002	T:0.0008	1	T:0		T	R/Q	uc003qtl.2	protein_coding		CCDS43523.1			4190/6123									ovary(3)|skin(2)|pancreas(1)	6	c.(4189-4191)CGA>CAA			Prints_domain:PR00018,Superfamily_domains:SSF57440,SMART_domains:SM00130,Gene3D:2.40.20.10,Pfam_domain:PF00051,hmmpanther:PTHR24261,PROSITE_profiles:PS50070	lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)	T:0	T:0	ENSP00000321334	T:0	26/39	0.000165	0.0001	0.000346			1.50E-05		0.000848	rs199747804,COSM2153935	26/39	common_variant		ENST00000316300	Transcript	1	T:0.0002	blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	ENSG00000198670	g.chr6:161006177C>T	6667			MODERATE		2.635	medium	getma.org/?cm=msa&ty=f&p=APOA_HUMAN&rb=3896&re=3973&var=R3905Q	getma.org/pdb.php?prot=APOA_HUMAN&from=3896&to=3973&var=R3905Q	getma.org/?cm=var&var=hg19,6,161006177,C,T&fts=all	R3905Q	--	--	1																																			0,1			benign(0.037)	p.R1397Q	NM_005577	NP_005568	T:0	tolerated(0.16)	0,1	APOA_HUMAN	LPA	HGNC	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Q9UKJ7_HUMAN,Q9UIR8_HUMAN,Q9UIR6_HUMAN,Q9UIR5_HUMAN		27	4310	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	UPI0000458AC9	3905			Kringle 35.		SNV	LPA,missense_variant,p.Arg1397Gln,ENST00000447678,NM_005577.2;LPA,missense_variant,p.Arg1397Gln,ENST00000316300,;	uc003qtl.2	c.4190G>A	4235/6414	1	1			c.4190G>A						6	SNP	c.(4189-4191)CGA>CAA	11	11			ovary(3)|skin(2)|pancreas(1)	6	Broad	lipoprotein Lp(a) precursor		Aminocaproic Acid(DB00513)	161006177		0.468	ENSG00000198670	8735	g.chr6:161006177C>T	blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity							308.84004	KEEP	50	63	-1	112	96	50	63	-1	314.489065	112	96	0.354305	1	0	0	0	0	1	0	0	0	--	--		0	T				121	GBM-12-0688-TP	p.R1397Q	C	GAGTGTGCCTCGATAACTCTG	NM_005577	NP_005568	161006177	P08519	APOA_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	27	4310	-	T	T		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	Missense_Mutation	3905			Kringle 35.			
LPA	0	broad.mit.edu	GRCh37	6	161007524	161007524	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-76-6191-01	TCGA-76-6191-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316300.5:c.4086C>A	p.Pro1362=	p.P1362=	ENST00000316300		1362	ccC/ccA	0			1			T	P	uc003qtl.2	protein_coding		CCDS43523.1			4086/6123									ovary(3)|skin(2)|pancreas(1)	6	c.(4084-4086)CCC>CCA			Low_complexity_(Seg):seg,Superfamily_domains:SSF57440,hmmpanther:PTHR24261	lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)			ENSP00000321334		25/39										25/39	.		ENST00000316300	Transcript	1		blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	ENSG00000198670	g.chr6:161007524G>T	6667			LOW								--	--	1																																							p.P1362P	NM_005577	NP_005568				APOA_HUMAN	LPA	HGNC	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Q9UKJ7_HUMAN,Q9UIR8_HUMAN,Q9UIR6_HUMAN,Q9UIR5_HUMAN		26	4206	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	UPI0000458AC9	3870			Kringle 34.		SNV	LPA,synonymous_variant,p.=,ENST00000447678,NM_005577.2;LPA,synonymous_variant,p.=,ENST00000316300,;	uc003qtl.2	c.4086C>A	4131/6414	2	2			c.4086C>A						6	SNP	c.(4084-4086)CCC>CCA	22	22			ovary(3)|skin(2)|pancreas(1)	6	Broad	lipoprotein Lp(a) precursor		Aminocaproic Acid(DB00513)	161007524		0.498	ENSG00000198670	8735	g.chr6:161007524G>T	blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity							27.430592	KEEP	10	20	0.333333333	20	38	10	20	0.333333333	33.28929	20	38	0.19403	1	0	0	0	0	0	0	1	0	--	--		0	T				274	GBM-76-6191-TP	p.P1362P	G	GGACCACCGTGGGAGTTGTGA	NM_005577	NP_005568	161007524	P08519	APOA_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	26	4206	-	T	T		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	Silent	3870			Kringle 34.			
LPA	4018		GRCh37	6	160998167	160998167	+	splice_donor_variant	Splice_Site	SNP	C	C	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000447678.1:c.4631+1G>A		p.X1544_splice	ENST00000447678	NM_005577.2	1544		0																																																																																																																																																																																																																																												
LPAR1	1902		GRCh37	9	113703965	113703965	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000374431.3:c.529G>A	p.Val177Ile	p.V177I	ENST00000374431	NM_057159.2	177	Gtt/Att	0																																																																																																																																																																																																																																												
LPAR3	23566	broad.mit.edu	GRCh37	1	85331129	85331142	+	frameshift_variant	Frame_Shift_Del	DEL	ACTTGTATGCGGAG	ACTTGTATGCGGAG	-	rs140283678;rs149462985		TCGA-06-0126-01	TCGA-06-0126-01	ACTTGTATGCGGAG	ACTTGTATGCGGAG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000440886.1:c.662_675del	p.Ser221TrpfsTer107	p.S221Wfs*107	ENST00000440886		221	tCTCCGCATACAAGT/t	0			1			-	SPHTS/X	uc001dkl.2	protein_coding		CCDS700.1			662-675/1062									lung(3)|ovary(2)	5	c.(661-675)TCTCCGCATACAAGTfs			Prints_domain:PR01527,Prints_domain:PR01560,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR22750:SF21,hmmpanther:PTHR22750,PROSITE_profiles:PS50262	lysophosphatidic acid receptor 3				ENSP00000359643		3-Feb										3-Feb	.		ENST00000370611	Transcript			G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		ENSG00000171517	g.chr1:85331129_85331142delACTTGTATGCGGAG	14298			HIGH								--	--	1																																		LPAR3_uc009wcj.1_Frame_Shift_Del_p.S221fs					p.S221fs	NM_012152	NP_036284				LPAR3_HUMAN	LPAR3	HGNC	Q9UBY5	LPAR3_HUMAN					1	701_714	-			UPI000003CAC0	221_225			Cytoplasmic (Potential).		deletion	LPAR3,frameshift_variant,p.Ser221TrpfsTer107,ENST00000440886,;LPAR3,frameshift_variant,p.Ser221TrpfsTer107,ENST00000370611,NM_012152.2;LPAR3,non_coding_transcript_exon_variant,,ENST00000491034,;	uc001dkl.2	c.662_675delCTCCGCATACAAGT	878-891/1720	5	5			c.662_675delCTCCGCATACAAGT						1	DEL	c.(661-675)TCTCCGCATACAAGTfs	56	56			lung(3)|ovary(2)	5	Broad	lysophosphatidic acid receptor 3			85331142		0.5	ENSG00000171517	8738	g.chr1:85331129_85331142delACTTGTATGCGGAG	G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle																					0.24	1	1	0	1	0	0	0	0	0	--	--		0	-			LPAR3_uc009wcj.1_Frame_Shift_Del_p.S221fs	13	GBM-06-0126-TP	p.S221fs	ACTTGTATGCGGAG	TGATGGACCCACTTGTATGCGGAGACAAGACGTT	NM_012152	NP_036284	85331129	Q9UBY5	LPAR3_HUMAN	0			1	701_714	-	-	-			Frame_Shift_Del	221_225			Cytoplasmic (Potential).			
LPAR3	0	broad.mit.edu	GRCh37	1	85331474	85331474	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-2502-01	TCGA-28-2502-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370611.3:c.330C>T	p.Asp110=	p.D110=	ENST00000370611	NM_012152.2	110	gaC/gaT	0			1			A	D	uc001dkl.2	protein_coding		CCDS700.1			330/1062									lung(3)|ovary(2)	5	c.(328-330)GAC>GAT			Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR22750:SF21,hmmpanther:PTHR22750,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	lysophosphatidic acid receptor 3				ENSP00000359643		3-Feb									COSM3401043	3-Feb	.		ENST00000370611	Transcript			G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		ENSG00000171517	g.chr1:85331474G>A	14298			LOW								--	--	1																																		LPAR3_uc009wcj.1_Silent_p.D110D	1				p.D110D	NM_012152	NP_036284			1	LPAR3_HUMAN	LPAR3	HGNC	Q9UBY5	LPAR3_HUMAN					1	369	-			UPI000003CAC0	110			Helical; Name=3; (Potential).		SNV	LPAR3,synonymous_variant,p.=,ENST00000440886,;LPAR3,synonymous_variant,p.=,ENST00000370611,NM_012152.2;LPAR3,non_coding_transcript_exon_variant,,ENST00000491034,;	uc001dkl.2	c.330C>T	546/1720	1	1			c.330C>T						1	SNP	c.(328-330)GAC>GAT	55	55			lung(3)|ovary(2)	5	Broad	lysophosphatidic acid receptor 3			85331474		0.493	ENSG00000171517	8738	g.chr1:85331474G>A	G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle								231.303983	KEEP	66	62	-1	155	172	66	62	-1	247.928676	155	172	0.272472	1	0	0	0	0	0	0	1	0	--	--		0	A			LPAR3_uc009wcj.1_Silent_p.D110D	210	GBM-28-2502-TP	p.D110D	G	TCAAGCTACTGTCCAGAAGCC	NM_012152	NP_036284	85331474	Q9UBY5	LPAR3_HUMAN	0			1	369	-	A	A			Silent	110			Helical; Name=3; (Potential).			
LPAR3	0	broad.mit.edu	GRCh37	1	85331664	85331665	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	rs76299065		TCGA-32-4209-01	TCGA-32-4209-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370611.3:c.139dupT	p.Ser47PhefsTer2	p.S47Ffs*2	ENST00000370611	NM_012152.2	47	tct/tTct	0			1			A	S/FX	uc001dkl.2	protein_coding		CCDS700.1			139-140/1062									lung(3)|ovary(2)	5	c.(139-141)TCTfs			Prints_domain:PR00237,Prints_domain:PR01560,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR22750:SF21,hmmpanther:PTHR22750,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	lysophosphatidic acid receptor 3				ENSP00000359643		3-Feb									rs765834329,COSM1344559	3-Feb	.		ENST00000370611	Transcript			G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		ENSG00000171517	g.chr1:85331664_85331665insA	14298			HIGH								--	--	1																																		LPAR3_uc009wcj.1_Frame_Shift_Ins_p.S47fs	0,1				p.S47fs	NM_012152	NP_036284			0,1	LPAR3_HUMAN	LPAR3	HGNC	Q9UBY5	LPAR3_HUMAN					1	178_179	-			UPI000003CAC0	47			Helical; Name=1; (Potential).		insertion	LPAR3,frameshift_variant,p.Ser47PhefsTer2,ENST00000440886,;LPAR3,frameshift_variant,p.Ser47PhefsTer2,ENST00000370611,NM_012152.2;LPAR3,non_coding_transcript_exon_variant,,ENST00000491034,;	uc001dkl.2	c.139_140insT	355-356/1720	5	5			c.139_140insT						1	INS	c.(139-141)TCTfs	33	33			lung(3)|ovary(2)	5	Broad	lysophosphatidic acid receptor 3			85331665		0.401	ENSG00000171517	8738	g.chr1:85331664_85331665insA	G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle																					0.02	1	0	0	1	1	0	0	0	0	--	--		0	A			LPAR3_uc009wcj.1_Frame_Shift_Ins_p.S47fs	244	GBM-32-4209-TP	p.S47fs	-	CAGAGAATTAGAAAAAAAAATA	NM_012152	NP_036284	85331664	Q9UBY5	LPAR3_HUMAN	0			1	178_179	-	A	A			Frame_Shift_Ins	47			Helical; Name=1; (Potential).			
LPAR3	0	broad.mit.edu	GRCh37	1	85331314	85331314	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-4934-01	TCGA-76-4934-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370611.3:c.490A>G	p.Thr164Ala	p.T164A	ENST00000370611	NM_012152.2	164	Aca/Gca	0			1			C	T/A	uc001dkl.2	protein_coding		CCDS700.1			490/1062									lung(3)|ovary(2)	5	c.(490-492)ACA>GCA			Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR22750:SF21,hmmpanther:PTHR22750,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	lysophosphatidic acid receptor 3				ENSP00000359643		3-Feb	4.12E-05					1.50E-05		0.000242	rs767838020,COSM3401042	3-Feb	.		ENST00000370611	Transcript			G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		ENSG00000171517	g.chr1:85331314T>C	14298			MODERATE		-0.61	neutral	getma.org/?cm=msa&ty=f&p=LPAR3_HUMAN&rb=47&re=293&var=T164A	getma.org/pdb.php?prot=LPAR3_HUMAN&from=47&to=293&var=T164A	getma.org/?cm=var&var=hg19,1,85331314,T,C&fts=all	T164A	--	--	1																																		LPAR3_uc009wcj.1_Missense_Mutation_p.T164A	0,1			benign(0.422)	p.T164A	NM_012152	NP_036284		tolerated(0.28)	0,1	LPAR3_HUMAN	LPAR3	HGNC	Q9UBY5	LPAR3_HUMAN					1	529	-			UPI000003CAC0	164			Helical; Name=4; (Potential).		SNV	LPAR3,missense_variant,p.Thr164Ala,ENST00000440886,;LPAR3,missense_variant,p.Thr164Ala,ENST00000370611,NM_012152.2;LPAR3,intron_variant,,ENST00000491034,;	uc001dkl.2	c.490A>G	706/1720	3	3			c.490A>G						1	SNP	c.(490-492)ACA>GCA	4	4			lung(3)|ovary(2)	5	Broad	lysophosphatidic acid receptor 3			85331314		0.527	ENSG00000171517	8738	g.chr1:85331314T>C	G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle								216.623712	KEEP	45	39	-1	136	155	45	39	-1	242.673962	136	155	0.221918	1	0	0	0	0	1	0	0	0	--	--		0	C			LPAR3_uc009wcj.1_Missense_Mutation_p.T164A	272	GBM-76-4934-TP	p.T164A	T	CAGCCCAGTGTGGGGACCGCC	NM_012152	NP_036284	85331314	Q9UBY5	LPAR3_HUMAN	0			1	529	-	C	C			Missense_Mutation	164			Helical; Name=4; (Potential).			
LPAR4	2846	broad.mit.edu	GRCh37	X	78011289	78011289	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-2563-01	TCGA-06-2563-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000435339.3:c.923C>A	p.Pro308His	p.P308H	ENST00000435339	NM_005296.2	308	cCt/cAt	0			1			A	P/H	uc010nme.2	protein_coding	YES	CCDS14441.1			923/1113									ovary(3)	3	c.(922-924)CCT>CAT			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24232,hmmpanther:PTHR24232:SF41,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	lysophosphatidic acid receptor 4				ENSP00000408205		2-Feb									COSM2152883	2-Feb	.		ENST00000435339	Transcript				integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	ENSG00000147145	g.chrX:78011289C>A	4478			MODERATE		4.065	high	getma.org/?cm=msa&ty=f&p=LPAR4_HUMAN&rb=56&re=311&var=P308H	getma.org/pdb.php?prot=LPAR4_HUMAN&from=56&to=311&var=P308H	getma.org/?cm=var&var=hg19,X,78011289,C,A&fts=all	P308H	--	--	1																																			1	1		probably_damaging(1)	p.P308H	NM_005296	NP_005287		deleterious(0)	1	LPAR4_HUMAN	LPAR4	HGNC	Q99677	LPAR4_HUMAN					2	1328	+			UPI000005041D	308			Helical; Name=7; (Potential).		SNV	LPAR4,missense_variant,p.Pro308His,ENST00000435339,NM_005296.2,NM_001278000.1;LPAR4,downstream_gene_variant,,ENST00000514744,;LPAR4,downstream_gene_variant,,ENST00000610214,;LPAR4,downstream_gene_variant,,ENST00000607964,;	uc010nme.2	c.923C>A	1309/2611	1	1			c.923C>A						23	SNP	c.(922-924)CCT>CAT	64	64			ovary(3)	3	Broad	lysophosphatidic acid receptor 4			78011289		0.418	ENSG00000147145	8739	g.chrX:78011289C>A		integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled							253.862153	KEEP	37	51	0.579545455	79	81	37	51	0.579545455	257.282219	79	81	0.369565	1	0	0	0	0	1	0	0	0	--	--		0	A				86	GBM-06-2563-TP	p.P308H	C	TGTTTTGACCCTTTCATCTAT	NM_005296	NP_005287	78011289	Q99677	LPAR4_HUMAN	0			2	1328	+	A	A			Missense_Mutation	308			Helical; Name=7; (Potential).			
LPAR5	57121	broad.mit.edu	GRCh37	12	6729601	6729601	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01	TCGA-06-0124-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329858.4:c.814C>T	p.Arg272Cys	p.R272C	ENST00000329858	NM_020400.5	272	Cgc/Tgc	0			1			A	R/C	uc009zer.2	protein_coding	YES	CCDS8553.1			814/1119									ovary(1)|skin(1)	2	c.(814-816)CGC>TGC			Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24234,hmmpanther:PTHR24234:SF6,Superfamily_domains:SSF81321	lysophosphatidic acid receptor 5				ENSP00000327875		2-Feb									COSM3399013	2-Feb	.		ENST00000329858	Transcript				integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	ENSG00000184574	g.chr12:6729601G>A	13307			MODERATE		1.575	low	getma.org/?cm=msa&ty=f&p=LPAR5_HUMAN&rb=39&re=297&var=R272C	getma.org/pdb.php?prot=LPAR5_HUMAN&from=39&to=297&var=R272C	getma.org/?cm=var&var=hg19,12,6729601,G,A&fts=all	R272C	--	--	1																																		LPAR5_uc001qps.2_Missense_Mutation_p.R272C|LPAR5_uc010sff.1_Missense_Mutation_p.R272C	1	1		benign(0.064)	p.R272C	NM_001142961	NP_001136433		tolerated(0.11)	1	LPAR5_HUMAN	LPAR5	HGNC	Q9H1C0	LPAR5_HUMAN			Q5KU18_HUMAN		2	1095	-			UPI0000036A45	272			Extracellular (Potential).		SNV	LPAR5,missense_variant,p.Arg272Cys,ENST00000329858,NM_020400.5;LPAR5,missense_variant,p.Arg272Cys,ENST00000431922,NM_001142961.1;LPAR5,non_coding_transcript_exon_variant,,ENST00000540335,;	uc009zer.2	c.814C>T	1571/3171	2	2			c.814C>T						12	SNP	c.(814-816)CGC>TGC	29	29			ovary(1)|skin(1)	2	Broad	lysophosphatidic acid receptor 5			6729601		0.667	ENSG00000184574	8740	g.chr12:6729601G>A		integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	NSCLC(74;891 2312 37538)			NSCLC(74;891 2312 37538)			7.520767	KEEP	6	1	-1	5	6	6	1	-1	7.87837	5	6	0.3	1	0	0	0	0	1	0	0	0	--	--		0	A			LPAR5_uc001qps.2_Missense_Mutation_p.R272C|LPAR5_uc010sff.1_Missense_Mutation_p.R272C	11	GBM-06-0124-TP	p.R272C	G	ACGCGATCGCGGGCAGGCACG	NM_001142961	NP_001136433	6729601	Q9H1C0	LPAR5_HUMAN	0			2	1095	-	A	A			Missense_Mutation	272			Extracellular (Potential).			
LPAR5	0	broad.mit.edu	GRCh37	12	6729589	6729589	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01	TCGA-12-0616-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329858.4:c.826C>T	p.Arg276Cys	p.R276C	ENST00000329858	NM_020400.5	276	Cgc/Tgc	0			1			A	R/C	uc009zer.2	protein_coding	YES	CCDS8553.1			826/1119									ovary(1)|skin(1)	2	c.(826-828)CGC>TGC			Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24234,hmmpanther:PTHR24234:SF6,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321	lysophosphatidic acid receptor 5				ENSP00000327875		2-Feb									COSM3399012	2-Feb	.		ENST00000329858	Transcript				integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	ENSG00000184574	g.chr12:6729589G>A	13307			MODERATE		2.52	medium	getma.org/?cm=msa&ty=f&p=LPAR5_HUMAN&rb=39&re=297&var=R276C	getma.org/pdb.php?prot=LPAR5_HUMAN&from=39&to=297&var=R276C	getma.org/?cm=var&var=hg19,12,6729589,G,A&fts=all	R276C	--	--	1																																		LPAR5_uc001qps.2_Missense_Mutation_p.R276C|LPAR5_uc010sff.1_Missense_Mutation_p.R276C	1	1		possibly_damaging(0.864)	p.R276C	NM_001142961	NP_001136433		deleterious(0)	1	LPAR5_HUMAN	LPAR5	HGNC	Q9H1C0	LPAR5_HUMAN			Q5KU18_HUMAN		2	1107	-			UPI0000036A45	276			Extracellular (Potential).		SNV	LPAR5,missense_variant,p.Arg276Cys,ENST00000329858,NM_020400.5;LPAR5,missense_variant,p.Arg276Cys,ENST00000431922,NM_001142961.1;LPAR5,downstream_gene_variant,,ENST00000540335,;	uc009zer.2	c.826C>T	1583/3171	2	2			c.826C>T						12	SNP	c.(826-828)CGC>TGC	43	43			ovary(1)|skin(1)	2	Broad	lysophosphatidic acid receptor 5			6729589		0.682	ENSG00000184574	8740	g.chr12:6729589G>A		integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	NSCLC(74;891 2312 37538)			NSCLC(74;891 2312 37538)			22.490449	KEEP	5	4	-1	2	3	5	4	-1	22.782119	2	3	0.666667	1	0	0	0	0	1	0	0	0	--	--		0	A			LPAR5_uc001qps.2_Missense_Mutation_p.R276C|LPAR5_uc010sff.1_Missense_Mutation_p.R276C	118	GBM-12-0616-TP	p.R276C	G	AGCACCCCGCGCACGCGATCG	NM_001142961	NP_001136433	6729589	Q9H1C0	LPAR5_HUMAN	0			2	1107	-	A	A			Missense_Mutation	276			Extracellular (Potential).			
LPCAT1	0	broad.mit.edu	GRCh37	5	1494825	1494825	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-14-0740-01	TCGA-14-0740-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283415.3:c.483G>T	p.Pro161=	p.P161=	ENST00000283415	NM_024830.3	161	ccG/ccT	0			1			A	P	uc003jcm.2	protein_coding	YES	CCDS3864.1			483/1605									ovary(2)	2	c.(481-483)CCG>CCT			Superfamily_domains:0039877,Pfam_domain:PF01553,hmmpanther:PTHR23063,hmmpanther:PTHR23063:SF11,SMART_domains:SM00563	lysophosphatidylcholine acyltransferase 1				ENSP00000283415		14-Mar									COSM3409999	14-Mar	.		ENST00000283415	Transcript			phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	ENSG00000153395	g.chr5:1494825C>A	25718			LOW								--	--	1																																			1	1			p.P161P	NM_024830	NP_079106			1	PCAT1_HUMAN	LPCAT1	HGNC	Q8NF37	PCAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)	D3DTC2_HUMAN		3	600	-			UPI000004771C	161			Lumenal (Potential).		SNV	LPCAT1,synonymous_variant,p.=,ENST00000283415,NM_024830.3;LPCAT1,non_coding_transcript_exon_variant,,ENST00000514484,;LPCAT1,synonymous_variant,p.=,ENST00000475622,;LPCAT1,non_coding_transcript_exon_variant,,ENST00000513757,;LPCAT1,non_coding_transcript_exon_variant,,ENST00000507282,;	uc003jcm.2	c.483G>T	616/3966	2	2			c.483G>T						5	SNP	c.(481-483)CCG>CCT	27	27			ovary(2)	2	Broad	lysophosphatidylcholine acyltransferase 1			1494825		0.597	ENSG00000153395	8742	g.chr5:1494825C>A	phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding							93.830873	KEEP	12	22	0.647058824	8	9	12	22	0.647058824	95.062195	8	9	0.673913	1	0	0	0	0	0	0	1	0	--	--		0	A				132	GBM-14-0740-TP	p.P161P	C	TTCCCCAGATCGGGATGTCTC	NM_024830	NP_079106	1494825	Q8NF37	PCAT1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)	3	600	-	A	A			Silent	161			Lumenal (Potential).			
LPCAT2	0	broad.mit.edu	GRCh37	16	55543215	55543215	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01	TCGA-26-6174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262134.5:c.122C>T	p.Pro41Leu	p.P41L	ENST00000262134	NM_017839.4	41	cCg/cTg	0			1			T	P/L	uc002eie.3	protein_coding	YES	CCDS10753.1			122/1635										0	c.(121-123)CCG>CTG			hmmpanther:PTHR23063,hmmpanther:PTHR23063:SF12,Low_complexity_(Seg):seg	lysophosphatidylcholine acyltransferase 2				ENSP00000262134		14-Jan	8.46E-06							0.000129	rs766483361,COSM3402369	14-Jan	.		ENST00000262134	Transcript			cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	ENSG00000087253	g.chr16:55543215C>T	26032			MODERATE		0.95	low	getma.org/?cm=msa&ty=f&p=PCAT2_HUMAN&rb=1&re=124&var=P41L	NA	getma.org/?cm=var&var=hg19,16,55543215,C,T&fts=all	P41L	--	--	1																																			0,1	1		benign(0.003)	p.P41L	NM_017839	NP_060309		tolerated(0.38)	0,1	PCAT2_HUMAN	LPCAT2	HGNC	Q7L5N7	PCAT2_HUMAN					1	303	+			UPI00001BD900	41			Cytoplasmic (Potential).		SNV	LPCAT2,missense_variant,p.Pro41Leu,ENST00000262134,NM_017839.4;MMP2,downstream_gene_variant,,ENST00000219070,NM_004530.4;MMP2,downstream_gene_variant,,ENST00000570308,;MMP2,downstream_gene_variant,,ENST00000437642,NM_001127891.1;MMP2,downstream_gene_variant,,ENST00000543485,;LPCAT2,non_coding_transcript_exon_variant,,ENST00000566911,;MMP2,downstream_gene_variant,,ENST00000566564,;	uc002eie.3	c.122C>T	306/5391	2	2			c.122C>T						16	SNP	c.(121-123)CCG>CTG	25	25				0	Broad	lysophosphatidylcholine acyltransferase 2			55543215		0.726	ENSG00000087253	8743	g.chr16:55543215C>T	cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding							21.221793	KEEP	2	6	-1	6	8	2	6	-1	21.416181	6	8	0.388889	1	0	0	0	0	1	0	0	0	--	--		0	T				188	GBM-26-6174-TP	p.P41L	C	CCGCCGGTGCCGAACCCCTTC	NM_017839	NP_060309	55543215	Q7L5N7	PCAT2_HUMAN	0			1	303	+	T	T			Missense_Mutation	41			Cytoplasmic (Potential).			
LPHN1	0	broad.mit.edu	GRCh37	19	14261968	14261968	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0192-01	TCGA-06-0192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340736.6:c.4142G>A	p.Arg1381Gln	p.R1381Q	ENST00000340736	NM_001008701.2	1381	cGg/cAg	0			1			T	R/Q	uc010xnn.1	protein_coding	YES	CCDS32928.1			4142/4425									ovary(2)|lung(2)|central_nervous_system(1)	5	c.(4141-4143)CGG>CAG			Pfam_domain:PF02354	latrophilin 1 isoform 1 precursor				ENSP00000340688		24/24	8.40E-06	0.000226							rs780931458,COSM1390906	24/24	.		ENST00000340736	Transcript			neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	ENSG00000072071	g.chr19:14261968C>T	20973			MODERATE		2.19	medium	getma.org/?cm=msa&ty=f&p=LPHN1_HUMAN&rb=1113&re=1474&var=R1381Q	NA	getma.org/?cm=var&var=hg19,19,14261968,C,T&fts=all	R1381Q	--	--	1																																		LPHN1_uc010xno.1_Missense_Mutation_p.R1376Q|uc002myf.2_Intron	0,1	1		probably_damaging(0.951)	p.R1381Q	NM_001008701	NP_001008701		deleterious(0)	0,1	LPHN1_HUMAN	LPHN1	HGNC	O94910	LPHN1_HUMAN					24	4438	-			UPI000005046A	1381			Cytoplasmic (Potential).		SNV	LPHN1,missense_variant,p.Arg1381Gln,ENST00000340736,NM_001008701.2;LPHN1,missense_variant,p.Arg1376Gln,ENST00000361434,NM_014921.4;LPHN1,downstream_gene_variant,,ENST00000592164,;LPHN1,downstream_gene_variant,,ENST00000593005,;CTB-55O6.12,intron_variant,,ENST00000588387,;CTB-55O6.12,intron_variant,,ENST00000588658,;CTB-55O6.12,upstream_gene_variant,,ENST00000592086,;	uc010xnn.1	c.4142G>A	4440/5658	2	2			c.4142G>A						19	SNP	c.(4141-4143)CGG>CAG	42	42			ovary(2)|lung(2)|central_nervous_system(1)	5	Broad	latrophilin 1 isoform 1 precursor			14261968		0.731	ENSG00000072071	8747	g.chr19:14261968C>T	neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding							16.396749	KEEP	2	6	-1	14	6	2	6	-1	17.229445	14	6	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	T			LPHN1_uc010xno.1_Missense_Mutation_p.R1376Q|uc002myf.2_Intron	44	GBM-06-0192-TP	p.R1381Q	C	GAGGGAGTCCCGGCCAGGAGG	NM_001008701	NP_001008701	14261968	O94910	LPHN1_HUMAN	0			24	4438	-	T	T			Missense_Mutation	1381			Cytoplasmic (Potential).			
LPHN3	0	broad.mit.edu	GRCh37	4	62598628	62598628	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-5408-01	TCGA-06-5408-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000514591.1:c.551A>G	p.Glu184Gly	p.E184G	ENST00000514591		184	gAg/gGg	0			1			G	E/G	uc010ihh.2	protein_coding	YES	CCDS54768.1			551/4410									lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18	c.(550-552)GAG>GGG			PROSITE_profiles:PS51132,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF60,Pfam_domain:PF02191,SMART_domains:SM00284	latrophilin 3 precursor				ENSP00000422533		25-Jul									COSM3409395,COSM3409396,COSM3409394	25-Jul	.		ENST00000514591	Transcript			neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	ENSG00000150471	g.chr4:62598628A>G	20974			MODERATE		2.8	medium	getma.org/?cm=msa&ty=f&p=LPHN3_HUMAN&rb=138&re=393&var=E184G	NA	getma.org/?cm=var&var=hg19,4,62598628,A,G&fts=all	E184G	--	--	1																																		LPHN3_uc003hcq.3_Missense_Mutation_p.E184G|LPHN3_uc010ihg.1_Missense_Mutation_p.E252G|LPHN3_uc003hcs.1_Missense_Mutation_p.E13G	1,1,1	1		probably_damaging(0.999)	p.E184G	NM_015236	NP_056051		deleterious(0)	1,1,1		LPHN3	HGNC	Q9HAR2	LPHN3_HUMAN			Q4W5J9_HUMAN,E9PE04_HUMAN		5	724	+			UPI00016278EF	184			Extracellular (Potential).|Olfactomedin-like.		SNV	LPHN3,missense_variant,p.Glu184Gly,ENST00000512091,;LPHN3,missense_variant,p.Glu184Gly,ENST00000514591,;LPHN3,missense_variant,p.Glu184Gly,ENST00000545650,NM_015236.4;LPHN3,missense_variant,p.Glu252Gly,ENST00000509896,;LPHN3,missense_variant,p.Glu252Gly,ENST00000511324,;LPHN3,missense_variant,p.Glu252Gly,ENST00000508693,;LPHN3,missense_variant,p.Glu252Gly,ENST00000507164,;LPHN3,missense_variant,p.Glu252Gly,ENST00000506720,;LPHN3,missense_variant,p.Glu252Gly,ENST00000506746,;LPHN3,missense_variant,p.Glu252Gly,ENST00000507625,;LPHN3,missense_variant,p.Glu184Gly,ENST00000506700,;LPHN3,missense_variant,p.Glu184Gly,ENST00000504896,;LPHN3,missense_variant,p.Glu184Gly,ENST00000514157,;LPHN3,missense_variant,p.Glu184Gly,ENST00000508946,;LPHN3,missense_variant,p.Glu184Gly,ENST00000514996,;	uc010ihh.2	c.551A>G	880/6297	3	3			c.551A>G						4	SNP	c.(550-552)GAG>GGG	4	4			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18	Broad	latrophilin 3 precursor			62598628		0.493	ENSG00000150471	8749	g.chr4:62598628A>G	neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding							58.067442	KEEP	10	8	-1	14	14	10	8	-1	58.40035	14	14	0.404762	1	0	0	0	0	1	0	0	0	--	--		0	G			LPHN3_uc003hcq.3_Missense_Mutation_p.E184G|LPHN3_uc010ihg.1_Missense_Mutation_p.E252G|LPHN3_uc003hcs.1_Missense_Mutation_p.E13G	92	GBM-06-5408-TP	p.E184G	A	ACCCTGACTGAGTATTCATCC	NM_015236	NP_056051	62598628	Q9HAR2	LPHN3_HUMAN	0			5	724	+	G	G			Missense_Mutation	184			Extracellular (Potential).|Olfactomedin-like.			
LPHN3	0	broad.mit.edu	GRCh37	4	62363023	62363023	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4929-01	TCGA-76-4929-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000514591.1:c.12G>A	p.Ser4=	p.S4=	ENST00000514591		4	tcG/tcA	0	A:0.0005	A:0.0008	1	A:0		A	S	uc010ihh.2	protein_coding	YES	CCDS54768.1			10-Dec									lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18	c.(10-12)TCG>TCA			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF60	latrophilin 3 precursor		A:0	A:0	ENSP00000422533	A:0	25-Mar	6.62E-05	0.000824							rs371504666,COSM3302683,COSM3302682,COSM3302681	25-Mar	common_variant		ENST00000514591	Transcript		A:0.0002	neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	ENSG00000150471	g.chr4:62363023G>A	20974			LOW								--	--	1																																		LPHN3_uc003hcq.3_Silent_p.S4S|LPHN3_uc010ihg.1_Silent_p.S4S	0,1,1,1	1			p.S4S	NM_015236	NP_056051	A:0		0,1,1,1		LPHN3	HGNC	Q9HAR2	LPHN3_HUMAN			Q4W5J9_HUMAN,E9PE04_HUMAN		1	185	+			UPI00016278EF	4					SNV	LPHN3,synonymous_variant,p.=,ENST00000512091,;LPHN3,synonymous_variant,p.=,ENST00000514591,;LPHN3,synonymous_variant,p.=,ENST00000545650,NM_015236.4;LPHN3,synonymous_variant,p.=,ENST00000509896,;LPHN3,synonymous_variant,p.=,ENST00000511324,;LPHN3,synonymous_variant,p.=,ENST00000508693,;LPHN3,synonymous_variant,p.=,ENST00000507164,;LPHN3,synonymous_variant,p.=,ENST00000506720,;LPHN3,synonymous_variant,p.=,ENST00000506746,;LPHN3,synonymous_variant,p.=,ENST00000507625,;LPHN3,synonymous_variant,p.=,ENST00000506700,;LPHN3,synonymous_variant,p.=,ENST00000504896,;LPHN3,synonymous_variant,p.=,ENST00000514157,;LPHN3,synonymous_variant,p.=,ENST00000508946,;LPHN3,synonymous_variant,p.=,ENST00000514996,;	uc010ihh.2	c.12G>A	341/6297	1	1			c.12G>A						4	SNP	c.(10-12)TCG>TCA	54	54			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18	Broad	latrophilin 3 precursor			62363023		0.348	ENSG00000150471	8749	g.chr4:62363023G>A	neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding							101.96733	KEEP	22	18	-1	23	23	22	18	-1	102.044071	23	23	0.464789	1	0	0	0	0	0	0	1	0	--	--		0	A			LPHN3_uc003hcq.3_Silent_p.S4S|LPHN3_uc010ihg.1_Silent_p.S4S	269	GBM-76-4929-TP	p.S4S	G	TGTGGCCATCGCAGCTACTAA	NM_015236	NP_056051	62363023	Q9HAR2	LPHN3_HUMAN	0			1	185	+	A	A			Silent	4						
LPHN3			GRCh37	4	62599060	62599060	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000514591.1:c.983A>G	p.Glu328Gly	p.E328G	ENST00000514591		328	gAg/gGg	0																																																																																																																																																																																																																																												
LPIN1	0	broad.mit.edu	GRCh37	2	11943091	11943091	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256720.2:c.1837G>A	p.Ala613Thr	p.A613T	ENST00000256720	NM_145693.2	613	Gca/Aca	0	A:0		1			A	A/T	uc010yjn.1	protein_coding		CCDS1682.1			1837/2673									ovary(2)|large_intestine(1)|skin(1)	4	c.(1837-1839)GCA>ACA			hmmpanther:PTHR12181:SF10,hmmpanther:PTHR12181	lipin 1			A:0.0002	ENSP00000256720		14/20	5.77E-05					0.000105			rs375865167,COSM3406819,COSM3406821,COSM3406820	14/20	.		ENST00000256720	Transcript	1		fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	ENSG00000134324	g.chr2:11943091G>A	13345			MODERATE		-0.06	neutral	getma.org/?cm=msa&ty=f&p=LPIN1_HUMAN&rb=515&re=673&var=A613T	NA	getma.org/?cm=var&var=hg19,2,11943091,G,A&fts=all	A613T	--	--	1																																		LPIN1_uc010yjm.1_Missense_Mutation_p.A698T|LPIN1_uc002rbt.2_Missense_Mutation_p.A613T|LPIN1_uc010yjo.1_Missense_Mutation_p.A114T	0,1,1,1			benign(0.001)	p.A613T	NM_145693	NP_663731		tolerated(0.59)	0,1,1,1	LPIN1_HUMAN	LPIN1	HGNC	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	C9J278_HUMAN,C9IYP2_HUMAN,B4DGZ6_HUMAN		15	2111	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		UPI000012E864	613					SNV	LPIN1,missense_variant,p.Ala613Thr,ENST00000256720,NM_145693.2;LPIN1,missense_variant,p.Ala343Thr,ENST00000396097,;LPIN1,missense_variant,p.Ala655Thr,ENST00000396099,;LPIN1,missense_variant,p.Ala698Thr,ENST00000449576,NM_001261428.1;LPIN1,missense_variant,p.Ala619Thr,ENST00000425416,NM_001261427.1;LPIN1,missense_variant,p.Ala114Thr,ENST00000404113,;LPIN1,missense_variant,p.Ala140Thr,ENST00000454151,;LPIN1,upstream_gene_variant,,ENST00000487346,;	uc010yjn.1	c.1837G>A	1930/5384	1	1			c.1837G>A						2	SNP	c.(1837-1839)GCA>ACA	61	61			ovary(2)|large_intestine(1)|skin(1)	4	Broad	lipin 1			11943091		0.532	ENSG00000134324	8750	g.chr2:11943091G>A	fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity							104.513909	KEEP	37	33	-1	104	103	37	33	-1	110.818239	104	103	0.280822	1	0	0	0	0	1	0	0	0	--	--		0	A			LPIN1_uc010yjm.1_Missense_Mutation_p.A698T|LPIN1_uc002rbt.2_Missense_Mutation_p.A613T|LPIN1_uc010yjo.1_Missense_Mutation_p.A114T	162	GBM-19-2620-TP	p.A613T	G	GCCATCAAACGCAGGCCACCT	NM_145693	NP_663731	11943091	Q14693	LPIN1_HUMAN	0		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	15	2111	+	A	A	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		Missense_Mutation	613						
LPIN1	0	broad.mit.edu	GRCh37	2	11911528	11911528	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01	TCGA-76-4927-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256720.2:c.319C>T	p.Pro107Ser	p.P107S	ENST00000256720	NM_145693.2	107	Ccc/Tcc	0			1			T	P/S	uc010yjn.1	protein_coding		CCDS1682.1			319/2673									ovary(2)|large_intestine(1)|skin(1)	4	c.(319-321)CCC>TCC			hmmpanther:PTHR12181:SF10,hmmpanther:PTHR12181,Pfam_domain:PF04571	lipin 1				ENSP00000256720		20-Apr									COSM475844,COSM3406818	20-Apr	.		ENST00000256720	Transcript	1		fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	ENSG00000134324	g.chr2:11911528C>T	13345			MODERATE		2.585	medium	getma.org/?cm=msa&ty=f&p=LPIN1_HUMAN&rb=1&re=114&var=P107S	NA	getma.org/?cm=var&var=hg19,2,11911528,C,T&fts=all	P107S	--	--	1																																		LPIN1_uc010yjm.1_Missense_Mutation_p.P156S|LPIN1_uc002rbt.2_Missense_Mutation_p.P107S|LPIN1_uc002rbs.2_Missense_Mutation_p.P107S	1,1			probably_damaging(1)	p.P107S	NM_145693	NP_663731		deleterious(0.01)	1,1	LPIN1_HUMAN	LPIN1	HGNC	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	C9J278_HUMAN,C9IYP2_HUMAN,B4DGZ6_HUMAN		5	593	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		UPI000012E864	107			N-LIP.		SNV	LPIN1,missense_variant,p.Pro107Ser,ENST00000256720,NM_145693.2;LPIN1,missense_variant,p.Pro113Ser,ENST00000396099,;LPIN1,missense_variant,p.Pro156Ser,ENST00000449576,NM_001261428.1;LPIN1,missense_variant,p.Pro113Ser,ENST00000425416,NM_001261427.1;LPIN1,missense_variant,p.Pro113Ser,ENST00000396098,NM_001261429.1;LPIN1,downstream_gene_variant,,ENST00000441684,;MIR548S,downstream_gene_variant,,ENST00000581352,;	uc010yjn.1	c.319C>T	412/5384	2	2			c.319C>T						2	SNP	c.(319-321)CCC>TCC	45	45			ovary(2)|large_intestine(1)|skin(1)	4	Broad	lipin 1			11911528		0.517	ENSG00000134324	8750	g.chr2:11911528C>T	fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity							94.791918	KEEP	26	12	-1	55	51	26	12	-1	100.979401	55	51	0.267717	1	0	0	0	0	1	0	0	0	--	--		0	T			LPIN1_uc010yjm.1_Missense_Mutation_p.P156S|LPIN1_uc002rbt.2_Missense_Mutation_p.P107S|LPIN1_uc002rbs.2_Missense_Mutation_p.P107S	267	GBM-76-4927-TP	p.P107S	C	GGCCACCTCCCCCATCCTGTC	NM_145693	NP_663731	11911528	Q14693	LPIN1_HUMAN	0		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	5	593	+	T	T	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		Missense_Mutation	107			N-LIP.			
LPIN3	64900	broad.mit.edu	GRCh37	20	39977494	39977494	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0876-01	TCGA-06-0876-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373257.3:c.524C>T	p.Ser175Phe	p.S175F	ENST00000373257	NM_022896.1	175	tCc/tTc	0			1			T	S/F	uc002xjx.2	protein_coding	YES	CCDS33469.1			524/2556									ovary(3)|central_nervous_system(1)	4	c.(523-525)TCC>TTC			hmmpanther:PTHR12181,hmmpanther:PTHR12181:SF32,Low_complexity_(Seg):seg	lipin 3				ENSP00000362354		20-Apr									COSM3405079	20-Apr	.		ENST00000373257	Transcript			fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	ENSG00000132793	g.chr20:39977494C>T	14451			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=LPIN3_HUMAN&rb=146&re=573&var=S175F	NA	getma.org/?cm=var&var=hg19,20,39977494,C,T&fts=all	S175F	--	--	1																																		LPIN3_uc010ggh.2_Missense_Mutation_p.S175F|LPIN3_uc010zwf.1_RNA	1	1		possibly_damaging(0.62)	p.S175F	NM_022896	NP_075047		deleterious(0.02)	1	LPIN3_HUMAN	LPIN3	HGNC	Q9BQK8	LPIN3_HUMAN					4	615	+		Myeloproliferative disorder(115;0.000739)	UPI0000470AE3	175					SNV	LPIN3,missense_variant,p.Ser175Phe,ENST00000373257,NM_022896.1;LPIN3,upstream_gene_variant,,ENST00000445975,;	uc002xjx.2	c.524C>T	615/4363	1	1			c.524C>T						20	SNP	c.(523-525)TCC>TTC	13	13			ovary(3)|central_nervous_system(1)	4	Broad	lipin 3			39977494		0.398	ENSG00000132793	8752	g.chr20:39977494C>T	fatty acid metabolic process	nucleus	phosphatidate phosphatase activity							15.035304	KEEP	3	4	-1	10	5	3	4	-1	15.482488	10	5	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	T			LPIN3_uc010ggh.2_Missense_Mutation_p.S175F|LPIN3_uc010zwf.1_RNA	72	GBM-06-0876-TP	p.S175F	C	AGTGAGCTATCCCTGCCGGAA	NM_022896	NP_075047	39977494	Q9BQK8	LPIN3_HUMAN	0			4	615	+	T	T		Myeloproliferative disorder(115;0.000739)	Missense_Mutation	175						
LPIN3	0	broad.mit.edu	GRCh37	20	39986528	39986528	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-19-2631-01	TCGA-19-2631-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373257.3:c.2046G>T	p.Gly682=	p.G682=	ENST00000373257	NM_022896.1	682	ggG/ggT	0			1			T	G	uc002xjx.2	protein_coding	YES	CCDS33469.1			2046/2556									ovary(3)|central_nervous_system(1)	4	c.(2044-2046)GGG>GGT			Gene3D:3.40.50.1000,Pfam_domain:PF08235,hmmpanther:PTHR12181,hmmpanther:PTHR12181:SF32,SMART_domains:SM00775,Superfamily_domains:SSF56784	lipin 3				ENSP00000362354		17/20									COSM2156387	17/20	.		ENST00000373257	Transcript			fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	ENSG00000132793	g.chr20:39986528G>T	14451			LOW								--	--	1																																		LPIN3_uc010ggh.2_Silent_p.G683G|LPIN3_uc010zwf.1_RNA	1	1			p.G682G	NM_022896	NP_075047			1	LPIN3_HUMAN	LPIN3	HGNC	Q9BQK8	LPIN3_HUMAN					17	2137	+		Myeloproliferative disorder(115;0.000739)	UPI0000470AE3	682			C-LIP.		SNV	LPIN3,synonymous_variant,p.=,ENST00000373257,NM_022896.1;LPIN3,synonymous_variant,p.=,ENST00000445975,;EMILIN3,downstream_gene_variant,,ENST00000332312,NM_052846.1;LPIN3,non_coding_transcript_exon_variant,,ENST00000496565,;LPIN3,upstream_gene_variant,,ENST00000491528,;	uc002xjx.2	c.2046G>T	2137/4363	1	1			c.2046G>T						20	SNP	c.(2044-2046)GGG>GGT	14	14			ovary(3)|central_nervous_system(1)	4	Broad	lipin 3			39986528		0.622	ENSG00000132793	8752	g.chr20:39986528G>T	fatty acid metabolic process	nucleus	phosphatidate phosphatase activity							62.46089	KEEP	14	18	0.4375	54	64	14	18	0.4375	70.99134	54	64	0.22314	1	0	0	0	0	0	0	1	0	--	--		0	T			LPIN3_uc010ggh.2_Silent_p.G683G|LPIN3_uc010zwf.1_RNA	167	GBM-19-2631-TP	p.G682G	G	TCAGAAATGGGTACAAGTTCC	NM_022896	NP_075047	39986528	Q9BQK8	LPIN3_HUMAN	0			17	2137	+	T	T		Myeloproliferative disorder(115;0.000739)	Silent	682			C-LIP.			
LPP	4026	broad.mit.edu	GRCh37	3	188327129	188327129	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0219-01	TCGA-06-0219-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312675.4:c.610C>T	p.Gln204Ter	p.Q204*	ENST00000312675	NM_005578.3	204	Cag/Tag	0			1			T	Q/*	uc003frs.1	protein_coding	YES	CCDS3291.1			610/1839	T		HMGA2|MLL|C12orf9		lipoma|leukemia		HMGA2/LPP(161)		soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1)	165	c.(610-612)CAG>TAG			hmmpanther:PTHR24207,hmmpanther:PTHR24207:SF0	LIM domain containing preferred translocation				ENSP00000318089		11-Jun									COSM2150977	11-Jun	.		ENST00000312675	Transcript			cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	ENSG00000145012	g.chr3:188327129C>T	6679			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,3,188327129,C,T&fts=all	Q204*	--	--	1																																		LPP_uc011bsg.1_Nonsense_Mutation_p.Q204*|LPP_uc011bsi.1_Nonsense_Mutation_p.Q204*|LPP_uc003frt.2_Nonsense_Mutation_p.Q204*|LPP_uc011bsj.1_Nonsense_Mutation_p.Q41*	1	1			p.Q204*	NM_005578	NP_005569			1	LPP_HUMAN	LPP	HGNC	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	C9JT42_HUMAN,C9JIY7_HUMAN,C9JE51_HUMAN,C9J5C8_HUMAN,C9J4E3_HUMAN,C9J3U9_HUMAN,C9J2R5_HUMAN,C9J1K7_HUMAN,B7Z871_HUMAN		6	856	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	UPI000002E034	204			Pro-rich.		SNV	LPP,stop_gained,p.Gln204Ter,ENST00000312675,NM_005578.3,NM_001167672.1;LPP,stop_gained,p.Gln204Ter,ENST00000543006,NM_001167671.1,NM_001167672.1;LPP,stop_gained,p.Gln204Ter,ENST00000448637,;LPP,stop_gained,p.Gln41Ter,ENST00000415906,;LPP,downstream_gene_variant,,ENST00000416784,;LPP,non_coding_transcript_exon_variant,,ENST00000471917,;LPP,non_coding_transcript_exon_variant,,ENST00000487347,;LPP,non_coding_transcript_exon_variant,,ENST00000462758,;LPP,downstream_gene_variant,,ENST00000494233,;	uc003frs.1	c.610C>T	856/18278	5	2			c.610C>T	T		HMGA2|MLL|C12orf9		lipoma|leukemia	3	SNP	c.(610-612)CAG>TAG	33	33	HMGA2/LPP(161)		soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1)	165	Broad	LIM domain containing preferred translocation			188327129		0.567	ENSG00000145012	8755	g.chr3:188327129C>T	cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding			184			184	120.70754	KEEP	34	28	-1	53	70	34	28	-1	122.426747	53	70	0.373984	1	0	0	0	0	0	1	0	0	--	--		0	T			LPP_uc011bsg.1_Nonsense_Mutation_p.Q204*|LPP_uc011bsi.1_Nonsense_Mutation_p.Q204*|LPP_uc003frt.2_Nonsense_Mutation_p.Q204*|LPP_uc011bsj.1_Nonsense_Mutation_p.Q41*	52	GBM-06-0219-TP	p.Q204*	C	ACCCCAGCCTCAGCCAGTCCC	NM_005578	NP_005569	188327129	Q93052	LPP_HUMAN	0		GBM - Glioblastoma multiforme(93;0.00602)	6	856	+	T	T	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	Nonsense_Mutation	204			Pro-rich.			
LPPR3	0	broad.mit.edu	GRCh37	19	813085	813085	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359894.2:c.1726G>A	p.Ala576Thr	p.A576T	ENST00000359894	NM_024888.2	576	Gcg/Acg	0			1			T	A/T	uc002lpx.1	protein_coding		CCDS58636.1			1642/2157										0	c.(1642-1644)GCG>ACG			Low_complexity_(Seg):seg	plasticity-related protein 2				ENSP00000430297		8-Aug									COSM3404796	8-Aug	.		ENST00000520876	Transcript				integral to membrane	phosphatidate phosphatase activity	ENSG00000129951	g.chr19:813085C>T				MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=LPPR3_HUMAN&rb=287&re=641&var=A548T	NA	getma.org/?cm=var&var=hg19,19,813085,C,T&fts=all	A548T	--	--	1																																		LPPR3_uc010dru.1_Intron|LPPR3_uc002lpw.1_Missense_Mutation_p.A576T|LPPR3_uc002lpy.1_Missense_Mutation_p.A329T|hsa-mir-3187|MI0014231_5'Flank	1			benign(0.003)	p.A548T	NM_024888	NP_079164		tolerated(0.62)	1	LPPR3_HUMAN	LPPR3	Uniprot_gn	Q6T4P5	LPPR3_HUMAN			K7ELK5_HUMAN		8	1706	-			UPI0000202E6B	548					SNV	LPPR3,missense_variant,p.Ala576Thr,ENST00000359894,NM_024888.2;LPPR3,missense_variant,p.Ala548Thr,ENST00000520876,NM_001270366.1;PTBP1,downstream_gene_variant,,ENST00000356948,NM_002819.4;PTBP1,downstream_gene_variant,,ENST00000394601,NM_031990.3;PTBP1,downstream_gene_variant,,ENST00000349038,NM_031991.3;PTBP1,downstream_gene_variant,,ENST00000350092,;LPPR3,downstream_gene_variant,,ENST00000519502,;PTBP1,downstream_gene_variant,,ENST00000585956,;LPPR3,downstream_gene_variant,,ENST00000517665,;MIR3187,upstream_gene_variant,,ENST00000583431,;PTBP1,downstream_gene_variant,,ENST00000586944,;PTBP1,downstream_gene_variant,,ENST00000585856,;PTBP1,downstream_gene_variant,,ENST00000585932,;PTBP1,downstream_gene_variant,,ENST00000589770,;PTBP1,downstream_gene_variant,,ENST00000587191,;	uc002lpx.1	c.1642G>A	1721/2288	1	1			c.1642G>A						19	SNP	c.(1642-1644)GCG>ACG	2	2				0	Broad	plasticity-related protein 2			813085		0.726	ENSG00000129951	8758	g.chr19:813085C>T		integral to membrane	phosphatidate phosphatase activity							45.202197	KEEP	9	6	-1	0	1	9	6	-1	47.075382	0	1	0.933333	1	0	0	0	0	1	0	0	0	--	--		0	T			LPPR3_uc010dru.1_Intron|LPPR3_uc002lpw.1_Missense_Mutation_p.A576T|LPPR3_uc002lpy.1_Missense_Mutation_p.A329T|hsa-mir-3187|MI0014231_5'Flank	102	GBM-06-5858-TP	p.A548T	C	GGGCCCGGCGCGCCCGGAGCC	NM_024888	NP_079164	813085	Q6T4P5	LPPR3_HUMAN	0			8	1706	-	T	T			Missense_Mutation	548						
LPXN	0	broad.mit.edu	GRCh37	11	58338166	58338166	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01	TCGA-14-1395-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395074.2:c.34G>A	p.Glu12Lys	p.E12K	ENST00000395074	NM_004811.2	12	Gaa/Aaa	0			1			T	E/K	uc001nmw.2	protein_coding		CCDS7969.1			34/1161									ovary(1)	1	c.(34-36)GAA>AAA			Low_complexity_(Seg):seg,hmmpanther:PTHR24216:SF23,hmmpanther:PTHR24216,PIRSF_domain:PIRSF037881	leupaxin isoform 2				ENSP00000378512		9-Feb									COSM3397898,COSM3397897	9-Feb	.		ENST00000395074	Transcript			cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding	ENSG00000110031	g.chr11:58338166C>T	14061			MODERATE		2.24	medium	getma.org/?cm=msa&ty=f&p=LPXN_HUMAN&rb=1&re=151&var=E12K	NA	getma.org/?cm=var&var=hg19,11,58338166,C,T&fts=all	E12K	--	--	1																																		LPXN_uc009ymp.2_5'UTR|LPXN_uc010rkj.1_Missense_Mutation_p.E17K|LPXN_uc010rkk.1_Nonsense_Mutation_p.W7*	1,1			unknown(0)	p.E12K	NM_004811	NP_004802		tolerated(0.07)	1,1	LPXN_HUMAN	LPXN	HGNC	O60711	LPXN_HUMAN			E9PNX9_HUMAN		2	179	-		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	UPI000012E82E	12			LD motif 1.		SNV	LPXN,stop_gained,p.Trp7Ter,ENST00000528489,;LPXN,missense_variant,p.Glu17Lys,ENST00000528954,NM_001143995.1;LPXN,missense_variant,p.Glu12Lys,ENST00000395074,NM_004811.2;LPXN,missense_variant,p.Glu12Lys,ENST00000530561,;LPXN,non_coding_transcript_exon_variant,,ENST00000529915,;	uc001nmw.2	c.34G>A	123/1833	1	1			c.34G>A						11	SNP	c.(34-36)GAA>AAA	6	6			ovary(1)	1	Broad	leupaxin isoform 2			58338166		0.433	ENSG00000110031	8761	g.chr11:58338166C>T	cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding							72.62835	KEEP	14	13	-1	15	12	14	13	-1	72.632775	15	12	0.489362	1	0	0	0	0	1	0	0	0	--	--		0	T			LPXN_uc009ymp.2_5'UTR|LPXN_uc010rkj.1_Missense_Mutation_p.E17K|LPXN_uc010rkk.1_Nonsense_Mutation_p.W7*	144	GBM-14-1395-TP	p.E12K	C	GTGGAGCGTTCCAGTTCCTCC	NM_004811	NP_004802	58338166	O60711	LPXN_HUMAN	0			2	179	-	T	T		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	Missense_Mutation	12			LD motif 1.			
LPXN	9404		GRCh37	11	58318640	58318640	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-2510-01	TCGA-28-2510-01																				ENST00000528954.1:c.399G>A	p.Leu133=	p.L133=	ENST00000528954	NM_001143995.1	133	ctG/ctA	0																																																																																																																																																																																																																																												
LRBA	987	broad.mit.edu	GRCh37	4	151788860	151788860	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0152-01	TCGA-06-0152-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357115.3:c.2729G>A	p.Arg910His	p.R910H	ENST00000357115	NM_006726.4	910	cGt/cAt	0			1			T	R/H	uc010ipj.2	protein_coding	YES	CCDS3773.1			2729/8592									ovary(3)|breast(3)|skin(1)	7	c.(2728-2730)CGT>CAT			hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF64,Superfamily_domains:SSF48371	LPS-responsive vesicle trafficking, beach and				ENSP00000349629		22/58									COSM2149882	22/58	.		ENST00000357115	Transcript	1			endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	ENSG00000198589	g.chr4:151788860C>T	1742			MODERATE		2.455	medium	getma.org/?cm=msa&ty=f&p=LRBA_HUMAN&rb=778&re=977&var=R910H	NA	getma.org/?cm=var&var=hg19,4,151788860,C,T&fts=all	R910H	--	--	1																																		LRBA_uc003ilu.3_Missense_Mutation_p.R910H	1	1		probably_damaging(0.996)	p.R910H	NM_006726	NP_006717		deleterious(0)	1	LRBA_HUMAN	LRBA	HGNC	P50851	LRBA_HUMAN			Q7KZN3_HUMAN		22	3203	-	all_hematologic(180;0.151)		UPI000013E35C	910					SNV	LRBA,missense_variant,p.Arg910His,ENST00000535741,;LRBA,missense_variant,p.Arg910His,ENST00000510413,NM_001199282.2;LRBA,missense_variant,p.Arg910His,ENST00000357115,NM_006726.4;LRBA,missense_variant,p.Arg910His,ENST00000507224,;	uc010ipj.2	c.2729G>A	2973/9899	1	1			c.2729G>A						4	SNP	c.(2728-2730)CGT>CAT	13	13			ovary(3)|breast(3)|skin(1)	7	Broad	LPS-responsive vesicle trafficking, beach and			151788860		0.343	ENSG00000198589	8763	g.chr4:151788860C>T		endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding							150.437482	KEEP	34	18	-1	37	26	34	18	-1	150.56671	37	26	0.462963	1	0	0	0	0	1	0	0	0	--	--		0	T			LRBA_uc003ilu.3_Missense_Mutation_p.R910H	25	GBM-06-0152-TP	p.R910H	C	TACCCATACACGCCAGCCACC	NM_006726	NP_006717	151788860	P50851	LRBA_HUMAN	0			22	3203	-	T	T	all_hematologic(180;0.151)		Missense_Mutation	910						
LRBA	987	broad.mit.edu	GRCh37	4	151791721	151791725	+	frameshift_variant	Frame_Shift_Del	DEL	TTATG	TTATG	-			TCGA-06-5414-01	TCGA-06-5414-01	TTATG	TTATG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357115.3:c.2401_2405del	p.His801ThrfsTer6	p.H801Tfs*6	ENST00000357115	NM_006726.4	801	CATAAa/a	0			1			-	HK/X	uc010ipj.2	protein_coding	YES	CCDS3773.1			2401-2405/8592									ovary(3)|breast(3)|skin(1)	7	c.(2401-2406)CATAAAfs			hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF64,Superfamily_domains:SSF48371	LPS-responsive vesicle trafficking, beach and				ENSP00000349629		20/58										20/58	.		ENST00000357115	Transcript	1			endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	ENSG00000198589	g.chr4:151791721_151791725delTTATG	1742			HIGH								--	--	1																																		LRBA_uc003ilu.3_Frame_Shift_Del_p.H801fs		1			p.H801fs	NM_006726	NP_006717				LRBA_HUMAN	LRBA	HGNC	P50851	LRBA_HUMAN			Q7KZN3_HUMAN		20	2875_2879	-	all_hematologic(180;0.151)		UPI000013E35C	801_802					deletion	LRBA,frameshift_variant,p.His801ThrfsTer6,ENST00000535741,;LRBA,frameshift_variant,p.His801ThrfsTer6,ENST00000510413,NM_001199282.2;LRBA,frameshift_variant,p.His801ThrfsTer6,ENST00000357115,NM_006726.4;LRBA,frameshift_variant,p.His801ThrfsTer6,ENST00000507224,;	uc010ipj.2	c.2401_2405delCATAA	2645-2649/9899	5	5			c.2401_2405delCATAA						4	DEL	c.(2401-2406)CATAAAfs	53	53			ovary(3)|breast(3)|skin(1)	7	Broad	LPS-responsive vesicle trafficking, beach and			151791725		0.312	ENSG00000198589	8763	g.chr4:151791721_151791725delTTATG		endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding																				0.28	1	1	0	1	0	0	0	0	0	--	--		0	-			LRBA_uc003ilu.3_Frame_Shift_Del_p.H801fs	97	GBM-06-5414-TP	p.H801fs	TTATG	TGGATGCTGTTTATGTATCACCTGA	NM_006726	NP_006717	151791721	P50851	LRBA_HUMAN	0			20	2875_2879	-	-	-	all_hematologic(180;0.151)		Frame_Shift_Del	801_802						
LRFN2	57497	broad.mit.edu	GRCh37	6	40359856	40359856	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0648-01	TCGA-06-0648-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338305.6:c.2196G>A	p.Ala732=	p.A732=	ENST00000338305	NM_020737.1	732	gcG/gcA	0			1			T	A	uc003oph.1	protein_coding	YES	CCDS34443.1			2196/2370									ovary(2)|skin(1)	3	c.(2194-2196)GCG>GCA			Low_complexity_(Seg):seg	leucine rich repeat and fibronectin type III				ENSP00000345985		3-Mar	1.65E-05					3.26E-05			rs762064936,COSM2151344	3-Mar	.		ENST00000338305	Transcript				cell junction|integral to membrane|postsynaptic membrane		ENSG00000156564	g.chr6:40359856C>T	21226			LOW								--	--	1																																			0,1	1			p.A732A	NM_020737	NP_065788			0,1	LRFN2_HUMAN	LRFN2	HGNC	Q9ULH4	LRFN2_HUMAN					3	2661	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		UPI00001C1E47	732			Cytoplasmic (Potential).		SNV	LRFN2,synonymous_variant,p.=,ENST00000338305,NM_020737.1;	uc003oph.1	c.2196G>A	2739/3270	1	1			c.2196G>A						6	SNP	c.(2194-2196)GCG>GCA	13	13			ovary(2)|skin(1)	3	Broad	leucine rich repeat and fibronectin type III			40359856		0.682	ENSG00000156564	8770	g.chr6:40359856C>T		cell junction|integral to membrane|postsynaptic membrane								13.502047	KEEP	17	10	-1	11	11	17	10	-1	13.649821	11	11	0.666667	1	0	0	0	0	0	0	1	0	--	--		0	T				61	GBM-06-0648-TP	p.A732A	C	CTCCCGCCGCCGCAGCAGCAA	NM_020737	NP_065788	40359856	Q9ULH4	LRFN2_HUMAN	0			3	2661	-	T	T	Ovarian(28;0.0418)|Colorectal(47;0.196)		Silent	732			Cytoplasmic (Potential).			
LRFN2	0	broad.mit.edu	GRCh37	6	40359728	40359728	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs146316351	byFrequency	TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338305.6:c.2324G>A	p.Arg775Gln	p.R775Q	ENST00000338305	NM_020737.1	775	cGg/cAg	0	T:0.0009	T:0.0023	1	T:0		T	R/Q	uc003oph.1	protein_coding	YES	CCDS34443.1			2324/2370									ovary(2)|skin(1)	3	c.(2323-2325)CGG>CAG				leucine rich repeat and fibronectin type III		T:0	T:0	ENSP00000345985	T:0	3-Mar	0.00014	0.00138	0.000174			1.55E-05			rs146316351,COSM3411087	3-Mar	common_variant		ENST00000338305	Transcript		T:0.0006		cell junction|integral to membrane|postsynaptic membrane		ENSG00000156564	g.chr6:40359728C>T	21226			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=LRFN2_HUMAN&rb=728&re=789&var=R775Q	NA	getma.org/?cm=var&var=hg19,6,40359728,C,T&fts=all	R775Q	--	--	1																																			0,1	1		benign(0.041)	p.R775Q	NM_020737	NP_065788	T:0	tolerated(0.06)	0,1	LRFN2_HUMAN	LRFN2	HGNC	Q9ULH4	LRFN2_HUMAN					3	2789	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		UPI00001C1E47	775			Cytoplasmic (Potential).		SNV	LRFN2,missense_variant,p.Arg775Gln,ENST00000338305,NM_020737.1;	uc003oph.1	c.2324G>A	2867/3270	2	2			c.2324G>A						6	SNP	c.(2323-2325)CGG>CAG	17	17			ovary(2)|skin(1)	3	Broad	leucine rich repeat and fibronectin type III			40359728		0.607	ENSG00000156564	8770	g.chr6:40359728C>T		cell junction|integral to membrane|postsynaptic membrane								210.045853	KEEP	35	39	-1	38	38	35	39	-1	210.052449	38	38	0.507692	1	0	0	0	0	1	0	0	0	--	--		0	T				218	GBM-28-5209-TP	p.R775Q	C	AAAAGTCCCCCGGGCCCCCAC	NM_020737	NP_065788	40359728	Q9ULH4	LRFN2_HUMAN	0			3	2789	-	T	T	Ovarian(28;0.0418)|Colorectal(47;0.196)		Missense_Mutation	775			Cytoplasmic (Potential).			
LRFN4	0	broad.mit.edu	GRCh37	11	66626230	66626230	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-14-4157-01	TCGA-14-4157-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309602.4:c.1018delG	p.Val340Ter	p.V340*	ENST00000309602	NM_024036.4	339	Ggg/gg	0			1			-	G/X	uc001ojr.2	protein_coding	YES	CCDS8153.1			1015/1908										0	c.(1015-1017)GGGfs			Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Pfam_domain:PF07679,Gene3D:2.60.40.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF104,PROSITE_profiles:PS50835	leucine rich repeat and fibronectin type III				ENSP00000312535		2-Jan										2-Jan	.		ENST00000309602	Transcript				integral to membrane		ENSG00000173621	g.chr11:66626230delG	28456	3		HIGH								--	--	1																																		PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojq.1_Frame_Shift_Del_p.G339fs|LRFN4_uc001ojs.2_Frame_Shift_Del_p.G339fs		1			p.G339fs	NM_024036	NP_076941				LRFN4_HUMAN	LRFN4	HGNC	Q6PJG9	LRFN4_HUMAN			Q7L3C2_HUMAN		1	1355	+			UPI0000001C10	339			Extracellular (Potential).|Ig-like.		deletion	LRFN4,frameshift_variant,p.Val340Ter,ENST00000309602,NM_024036.4;LRFN4,frameshift_variant,p.Val340Ter,ENST00000393952,;PC,intron_variant,,ENST00000393960,NM_001040716.1;PC,intron_variant,,ENST00000393958,NM_000920.3;PC,intron_variant,,ENST00000393955,NM_022172.2;PC,downstream_gene_variant,,ENST00000524491,;PC,downstream_gene_variant,,ENST00000355677,;PC,intron_variant,,ENST00000530187,;LRFN4,downstream_gene_variant,,ENST00000531590,;	uc001ojr.2	c.1015delG	1258/2431	5	5			c.1015delG						11	DEL	c.(1015-1017)GGGfs	42	42				0	Broad	leucine rich repeat and fibronectin type III			66626230		0.677	ENSG00000173621	8772	g.chr11:66626230delG		integral to membrane																					0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojq.1_Frame_Shift_Del_p.G339fs|LRFN4_uc001ojs.2_Frame_Shift_Del_p.G339fs	152	GBM-14-4157-TP	p.G339fs	G	CTTAGAGATTGGGGTGACCGG	NM_024036	NP_076941	66626230	Q6PJG9	LRFN4_HUMAN	0			1	1355	+	-	-			Frame_Shift_Del	339			Extracellular (Potential).|Ig-like.			
LRFN5	145581	broad.mit.edu	GRCh37	14	42356674	42356674	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0145-01	TCGA-06-0145-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298119.4:c.846T>A	p.Phe282Leu	p.F282L	ENST00000298119	NM_152447.3	282	ttT/ttA	0			1			A	F/L	uc001wvm.2	protein_coding	YES	CCDS9678.1			846/2160									ovary(5)|pancreas(2)|central_nervous_system(1)	8	c.(844-846)TTT>TTA			Superfamily_domains:SSF52058,Gene3D:3.80.10.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF3	leucine rich repeat and fibronectin type III				ENSP00000298119		6-Mar									COSM2149702	6-Mar	.		ENST00000298119	Transcript				integral to membrane		ENSG00000165379	g.chr14:42356674T>A	20360			MODERATE		1.11	low	getma.org/?cm=msa&ty=f&p=LRFN5_HUMAN&rb=240&re=286&var=F282L	NA	getma.org/?cm=var&var=hg19,14,42356674,T,A&fts=all	F282L	--	--	1				HNSCC(30;0.082)																														LRFN5_uc010ana.2_Missense_Mutation_p.F282L	1	1		probably_damaging(0.947)	p.F282L	NM_152447	NP_689660		tolerated(0.06)	1	LRFN5_HUMAN	LRFN5	HGNC	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)			3	2044	+			UPI000000DA1E	282			Extracellular (Potential).|LRRCT.		SNV	LRFN5,missense_variant,p.Phe282Leu,ENST00000554171,;LRFN5,missense_variant,p.Phe282Leu,ENST00000298119,NM_152447.3;LRFN5,missense_variant,p.Phe282Leu,ENST00000554120,;	uc001wvm.2	c.846T>A	2035/3723	2	2			c.846T>A						14	SNP	c.(844-846)TTT>TTA	33	33			ovary(5)|pancreas(2)|central_nervous_system(1)	8	Broad	leucine rich repeat and fibronectin type III			42356674		0.502	ENSG00000165379	8773	g.chr14:42356674T>A		integral to membrane								173.238895	KEEP	35	28	-1	55	44	35	28	-1	174.613681	55	44	0.398693	1	0	0	0	0	1	0	0	0	--	--	HNSCC(30;0.082)	0	A			LRFN5_uc010ana.2_Missense_Mutation_p.F282L	23	GBM-06-0145-TP	p.F282L	T	AAGAAGAGTTTTTGTGTGAGC	NM_152447	NP_689660	42356674	Q96NI6	LRFN5_HUMAN	0	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	2044	+	A	A			Missense_Mutation	282			Extracellular (Potential).|LRRCT.			
LRFN5	145581	broad.mit.edu	GRCh37	14	42360832	42360832	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01	TCGA-06-0744-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298119.4:c.1765G>A	p.Val589Met	p.V589M	ENST00000298119	NM_152447.3	589	Gtg/Atg	0			1			A	V/M	uc001wvm.2	protein_coding	YES	CCDS9678.1			1765/2160									ovary(5)|pancreas(2)|central_nervous_system(1)	8	c.(1765-1767)GTG>ATG			hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF3	leucine rich repeat and fibronectin type III				ENSP00000298119		6-Apr	8.24E-06							6.06E-05	rs772023044,COSM2151693	6-Apr	.		ENST00000298119	Transcript				integral to membrane		ENSG00000165379	g.chr14:42360832G>A	20360			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=LRFN5_HUMAN&rb=575&re=719&var=V589M	NA	getma.org/?cm=var&var=hg19,14,42360832,G,A&fts=all	V589M	--	--	1				HNSCC(30;0.082)																														LRFN5_uc010ana.2_Intron	0,1	1		benign(0.003)	p.V589M	NM_152447	NP_689660		tolerated(0.22)	0,1	LRFN5_HUMAN	LRFN5	HGNC	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)			4	2963	+			UPI000000DA1E	589			Cytoplasmic (Potential).		SNV	LRFN5,missense_variant,p.Val589Met,ENST00000298119,NM_152447.3;LRFN5,intron_variant,,ENST00000554171,;LRFN5,intron_variant,,ENST00000554120,;	uc001wvm.2	c.1765G>A	2954/3723	1	1			c.1765G>A						14	SNP	c.(1765-1767)GTG>ATG	55	55			ovary(5)|pancreas(2)|central_nervous_system(1)	8	Broad	leucine rich repeat and fibronectin type III			42360832		0.463	ENSG00000165379	8773	g.chr14:42360832G>A		integral to membrane								113.330237	KEEP	27	14	-1	28	31	27	14	-1	114.08375	28	31	0.404255	1	0	0	0	0	1	0	0	0	--	--	HNSCC(30;0.082)	0	A			LRFN5_uc010ana.2_Intron	66	GBM-06-0744-TP	p.V589M	G	GCCCCAGTCCGTGTCCAAACA	NM_152447	NP_689660	42360832	Q96NI6	LRFN5_HUMAN	0	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	2963	+	A	A			Missense_Mutation	589			Cytoplasmic (Potential).			
LRFN5	145581	broad.mit.edu	GRCh37	14	42360496	42360496	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-5410-01	TCGA-06-5410-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298119.4:c.1429G>C	p.Ala477Pro	p.A477P	ENST00000298119	NM_152447.3	477	Gct/Cct	0			1			C	A/P	uc001wvm.2	protein_coding	YES	CCDS9678.1			1429/2160									ovary(5)|pancreas(2)|central_nervous_system(1)	8	c.(1429-1431)GCT>CCT			Superfamily_domains:SSF49265,Gene3D:2.60.40.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF3	leucine rich repeat and fibronectin type III				ENSP00000298119		6-Apr									COSM3401311	6-Apr	.		ENST00000298119	Transcript				integral to membrane		ENSG00000165379	g.chr14:42360496G>C	20360			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=LRFN5_HUMAN&rb=414&re=503&var=A477P	NA	getma.org/?cm=var&var=hg19,14,42360496,G,C&fts=all	A477P	--	--	1				HNSCC(30;0.082)																														LRFN5_uc010ana.2_Intron	1	1		probably_damaging(0.99)	p.A477P	NM_152447	NP_689660		deleterious(0)	1	LRFN5_HUMAN	LRFN5	HGNC	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)			4	2627	+			UPI000000DA1E	477			Extracellular (Potential).|Fibronectin type-III.		SNV	LRFN5,missense_variant,p.Ala477Pro,ENST00000298119,NM_152447.3;LRFN5,intron_variant,,ENST00000554171,;LRFN5,intron_variant,,ENST00000554120,;	uc001wvm.2	c.1429G>C	2618/3723	3	3			c.1429G>C						14	SNP	c.(1429-1431)GCT>CCT	11	11			ovary(5)|pancreas(2)|central_nervous_system(1)	8	Broad	leucine rich repeat and fibronectin type III			42360496		0.403	ENSG00000165379	8773	g.chr14:42360496G>C		integral to membrane								13.907076	KEEP	7	9	-1	75	94	7	9	-1	41.991081	75	94	0.090361	1	0	0	0	0	1	0	0	0	--	--	HNSCC(30;0.082)	0	C			LRFN5_uc010ana.2_Intron	93	GBM-06-5410-TP	p.A477P	G	CAATAATCTGGCTGCTGGAAC	NM_152447	NP_689660	42360496	Q96NI6	LRFN5_HUMAN	0	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	2627	+	C	C			Missense_Mutation	477			Extracellular (Potential).|Fibronectin type-III.			
LRFN5	0	broad.mit.edu	GRCh37	14	42355895	42355895	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0781-01	TCGA-14-0781-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298119.4:c.67C>T	p.Arg23Cys	p.R23C	ENST00000298119	NM_152447.3	23	Cgt/Tgt	0			1			T	R/C	uc001wvm.2	protein_coding	YES	CCDS9678.1			67/2160									ovary(5)|pancreas(2)|central_nervous_system(1)	8	c.(67-69)CGT>TGT			Gene3D:3.80.10.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF3	leucine rich repeat and fibronectin type III				ENSP00000298119		6-Mar									COSM3401308	6-Mar	.		ENST00000298119	Transcript				integral to membrane		ENSG00000165379	g.chr14:42355895C>T	20360			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=LRFN5_HUMAN&rb=18&re=51&var=R23C	NA	getma.org/?cm=var&var=hg19,14,42355895,C,T&fts=all	R23C	--	--	1				HNSCC(30;0.082)																														LRFN5_uc010ana.2_Missense_Mutation_p.R23C	1	1		probably_damaging(0.998)	p.R23C	NM_152447	NP_689660		deleterious(0)	1	LRFN5_HUMAN	LRFN5	HGNC	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)			3	1265	+			UPI000000DA1E	23			Extracellular (Potential).|LRRNT.		SNV	LRFN5,missense_variant,p.Arg23Cys,ENST00000554171,;LRFN5,missense_variant,p.Arg23Cys,ENST00000298119,NM_152447.3;LRFN5,missense_variant,p.Arg23Cys,ENST00000554120,;	uc001wvm.2	c.67C>T	1256/3723	1	1			c.67C>T						14	SNP	c.(67-69)CGT>TGT	13	13			ovary(5)|pancreas(2)|central_nervous_system(1)	8	Broad	leucine rich repeat and fibronectin type III			42355895		0.398	ENSG00000165379	8773	g.chr14:42355895C>T		integral to membrane								11.533312	KEEP	6	0	-1	11	20	6	0	-1	14.884292	11	20	0.176471	1	0	0	0	0	1	0	0	0	--	--	HNSCC(30;0.082)	0	T			LRFN5_uc010ana.2_Missense_Mutation_p.R23C	133	GBM-14-0781-TP	p.R23C	C	CTGTCCAAAGCGTTGTGTCTG	NM_152447	NP_689660	42355895	Q96NI6	LRFN5_HUMAN	0	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	1265	+	T	T			Missense_Mutation	23			Extracellular (Potential).|LRRNT.			
LRFN5	0	broad.mit.edu	GRCh37	14	42356801	42356801	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-26-5135-01	TCGA-26-5135-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298119.4:c.973G>T	p.Gly325Trp	p.G325W	ENST00000298119	NM_152447.3	325	Ggg/Tgg	0			1			T	G/W	uc001wvm.2	protein_coding	YES	CCDS9678.1			973/2160									ovary(5)|pancreas(2)|central_nervous_system(1)	8	c.(973-975)GGG>TGG			Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Pfam_domain:PF07679,Gene3D:2.60.40.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF3,PROSITE_profiles:PS50835	leucine rich repeat and fibronectin type III				ENSP00000298119		6-Mar									COSM2157047	6-Mar	.		ENST00000298119	Transcript				integral to membrane		ENSG00000165379	g.chr14:42356801G>T	20360			MODERATE		3.995	high	getma.org/?cm=msa&ty=f&p=LRFN5_HUMAN&rb=287&re=374&var=G325W	getma.org/pdb.php?prot=LRFN5_HUMAN&from=287&to=374&var=G325W	getma.org/?cm=var&var=hg19,14,42356801,G,T&fts=all	G325W	--	--	1				HNSCC(30;0.082)																														LRFN5_uc010ana.2_Missense_Mutation_p.G325W	1	1		probably_damaging(0.998)	p.G325W	NM_152447	NP_689660		deleterious(0)	1	LRFN5_HUMAN	LRFN5	HGNC	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)			3	2171	+			UPI000000DA1E	325			Extracellular (Potential).|Ig-like.		SNV	LRFN5,missense_variant,p.Gly325Trp,ENST00000554171,;LRFN5,missense_variant,p.Gly325Trp,ENST00000298119,NM_152447.3;LRFN5,missense_variant,p.Gly325Trp,ENST00000554120,;	uc001wvm.2	c.973G>T	2162/3723	2	2			c.973G>T						14	SNP	c.(973-975)GGG>TGG	17	17			ovary(5)|pancreas(2)|central_nervous_system(1)	8	Broad	leucine rich repeat and fibronectin type III			42356801		0.453	ENSG00000165379	8773	g.chr14:42356801G>T		integral to membrane								247.761424	KEEP	41	52	0.440860215	65	81	41	52	0.440860215	250.210206	65	81	0.388393	1	0	0	0	0	1	0	0	0	--	--	HNSCC(30;0.082)	0	T			LRFN5_uc010ana.2_Missense_Mutation_p.G325W	184	GBM-26-5135-TP	p.G325W	G	TTCTCCTGAAGGGAAGCTTAT	NM_152447	NP_689660	42356801	Q96NI6	LRFN5_HUMAN	0	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	2171	+	T	T			Missense_Mutation	325			Extracellular (Potential).|Ig-like.			
LRFN5	0	broad.mit.edu	GRCh37	14	42356720	42356720	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-4929-01	TCGA-76-4929-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298119.4:c.892G>T	p.Val298Phe	p.V298F	ENST00000298119	NM_152447.3	298	Gtc/Ttc	0			1			T	V/F	uc001wvm.2	protein_coding	YES	CCDS9678.1			892/2160									ovary(5)|pancreas(2)|central_nervous_system(1)	8	c.(892-894)GTC>TTC			Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07679,Gene3D:2.60.40.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF3,PROSITE_profiles:PS50835	leucine rich repeat and fibronectin type III				ENSP00000298119		6-Mar									COSM3401309	6-Mar	.		ENST00000298119	Transcript				integral to membrane		ENSG00000165379	g.chr14:42356720G>T	20360			MODERATE		3.725	high	getma.org/?cm=msa&ty=f&p=LRFN5_HUMAN&rb=287&re=374&var=V298F	getma.org/pdb.php?prot=LRFN5_HUMAN&from=287&to=374&var=V298F	getma.org/?cm=var&var=hg19,14,42356720,G,T&fts=all	V298F	--	--	1				HNSCC(30;0.082)																														LRFN5_uc010ana.2_Missense_Mutation_p.V298F	1	1		probably_damaging(0.97)	p.V298F	NM_152447	NP_689660		deleterious(0)	1	LRFN5_HUMAN	LRFN5	HGNC	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)			3	2090	+			UPI000000DA1E	298			Extracellular (Potential).|Ig-like.		SNV	LRFN5,missense_variant,p.Val298Phe,ENST00000554171,;LRFN5,missense_variant,p.Val298Phe,ENST00000298119,NM_152447.3;LRFN5,missense_variant,p.Val298Phe,ENST00000554120,;	uc001wvm.2	c.892G>T	2081/3723	1	1			c.892G>T						14	SNP	c.(892-894)GTC>TTC	7	7			ovary(5)|pancreas(2)|central_nervous_system(1)	8	Broad	leucine rich repeat and fibronectin type III			42356720		0.478	ENSG00000165379	8773	g.chr14:42356720G>T		integral to membrane								282.294796	KEEP	41	45	0.476744186	16	15	41	45	0.476744186	287.74154	16	15	0.732143	1	0	0	0	0	1	0	0	0	--	--	HNSCC(30;0.082)	0	T			LRFN5_uc010ana.2_Missense_Mutation_p.V298F	269	GBM-76-4929-TP	p.V298F	G	TGAGATGAGAGTCCTGGAGGG	NM_152447	NP_689660	42356720	Q96NI6	LRFN5_HUMAN	0	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	2090	+	T	T			Missense_Mutation	298			Extracellular (Potential).|Ig-like.			
LRFN5	0	broad.mit.edu	GRCh37	14	42356780	42356780	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-81-5910-01	TCGA-81-5910-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298119.4:c.952A>G	p.Ile318Val	p.I318V	ENST00000298119	NM_152447.3	318	Att/Gtt	0			1			G	I/V	uc001wvm.2	protein_coding	YES	CCDS9678.1			952/2160									ovary(5)|pancreas(2)|central_nervous_system(1)	8	c.(952-954)ATT>GTT			Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Pfam_domain:PF07679,Gene3D:2.60.40.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF3,PROSITE_profiles:PS50835	leucine rich repeat and fibronectin type III				ENSP00000298119		6-Mar									COSM3401310	6-Mar	.		ENST00000298119	Transcript				integral to membrane		ENSG00000165379	g.chr14:42356780A>G	20360			MODERATE		0.285	neutral	getma.org/?cm=msa&ty=f&p=LRFN5_HUMAN&rb=287&re=374&var=I318V	getma.org/pdb.php?prot=LRFN5_HUMAN&from=287&to=374&var=I318V	getma.org/?cm=var&var=hg19,14,42356780,A,G&fts=all	I318V	--	--	1				HNSCC(30;0.082)																														LRFN5_uc010ana.2_Missense_Mutation_p.I318V	1	1		benign(0.23)	p.I318V	NM_152447	NP_689660		tolerated(0.6)	1	LRFN5_HUMAN	LRFN5	HGNC	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)			3	2150	+			UPI000000DA1E	318			Extracellular (Potential).|Ig-like.		SNV	LRFN5,missense_variant,p.Ile318Val,ENST00000554171,;LRFN5,missense_variant,p.Ile318Val,ENST00000298119,NM_152447.3;LRFN5,missense_variant,p.Ile318Val,ENST00000554120,;	uc001wvm.2	c.952A>G	2141/3723	4	4			c.952A>G						14	SNP	c.(952-954)ATT>GTT	28	28			ovary(5)|pancreas(2)|central_nervous_system(1)	8	Broad	leucine rich repeat and fibronectin type III			42356780		0.463	ENSG00000165379	8773	g.chr14:42356780A>G		integral to membrane								107.144289	KEEP	12	25	-1	34	50	12	25	-1	110.780617	34	50	0.305556	1	0	0	0	0	1	0	0	0	--	--	HNSCC(30;0.082)	0	G			LRFN5_uc010ana.2_Missense_Mutation_p.I318V	289	GBM-81-5910-TP	p.I318V	A	TGAGCCTGCAATTCACTGGAT	NM_152447	NP_689660	42356780	Q96NI6	LRFN5_HUMAN	0	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	2150	+	G	G			Missense_Mutation	318			Extracellular (Potential).|Ig-like.			
LRIF1	55791	broad.mit.edu	GRCh37	1	111490908	111490908	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369763.4:c.1983C>T	p.Thr661=	p.T661=	ENST00000369763	NM_018372.3	661	acC/acT	0	A:0.0005		1			A	T	uc001eaa.2	protein_coding	YES	CCDS30800.1			1983/2310										0	c.(1981-1983)ACC>ACT			hmmpanther:PTHR16131,hmmpanther:PTHR16131:SF2	receptor-interacting factor 1 isoform 1			A:0	ENSP00000358778		4-Apr	3.29E-05	0.000384							rs375688507,COSM893737	4-Apr	.		ENST00000369763	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	ENSG00000121931	g.chr1:111490908G>A	30299			LOW								--	--	1																																		C1orf103_uc001dzz.2_Silent_p.T125T|C1orf103_uc001eab.2_Silent_p.T125T|C1orf103_uc001eac.1_Silent_p.T124T	0,1	1			p.T661T	NM_018372	NP_060842			0,1	LRIF1_HUMAN	LRIF1	HGNC	Q5T3J3	LRIF1_HUMAN		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)			4	2239	-		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)	UPI0000205296	661					SNV	LRIF1,synonymous_variant,p.=,ENST00000369763,NM_018372.3;LRIF1,synonymous_variant,p.=,ENST00000494675,;LRIF1,synonymous_variant,p.=,ENST00000485275,NM_001006945.1;RP11-96K19.2,intron_variant,,ENST00000440689,;	uc001eaa.2	c.1983C>T	2374/3475	1	1			c.1983C>T						1	SNP	c.(1981-1983)ACC>ACT	56	56				0	Broad	receptor-interacting factor 1 isoform 1			111490908		0.368	ENSG00000121931	1934	g.chr1:111490908G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding							-30.267461	KEEP	2	3	-1	75	101	2	3	-1	10.521854	75	101	0.029762	1	0	0	0	0	0	0	1	0	--	--		0	A			C1orf103_uc001dzz.2_Silent_p.T125T|C1orf103_uc001eab.2_Silent_p.T125T|C1orf103_uc001eac.1_Silent_p.T124T	102	GBM-06-5858-TP	p.T661T	G	GTTGGGAACCGGTGACATTAG	NM_018372	NP_060842	111490908	Q5T3J3	LRIF1_HUMAN	0		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)	4	2239	-	A	A		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)	Silent	661						
LRIG1	26018	broad.mit.edu	GRCh37	3	66449417	66449417	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0644-01	TCGA-06-0644-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273261.3:c.1209G>A	p.Ser403=	p.S403=	ENST00000273261	NM_015541.2	403	tcG/tcA	0			1			T	S	uc003dmx.2	protein_coding	YES	CCDS33783.1			1209/3282									skin(3)|ovary(2)	5	c.(1207-1209)TCG>TCA			Superfamily_domains:SSF52058,SMART_domains:SM00369,SMART_domains:SM00365,Gene3D:3.80.10.10,Pfam_domain:PF13855,hmmpanther:PTHR24367:SF245,hmmpanther:PTHR24367,PROSITE_profiles:PS51450	leucine-rich repeats and immunoglobulin-like				ENSP00000273261		19-Oct									COSM2151232,COSM2151233	19-Oct	.		ENST00000273261	Transcript				integral to membrane		ENSG00000144749	g.chr3:66449417C>T	17360			LOW								--	--	1																																		LRIG1_uc011bfu.1_Silent_p.S23S|LRIG1_uc003dmw.2_Silent_p.S69S|LRIG1_uc010hnz.2_Intron|LRIG1_uc010hoa.2_Silent_p.S427S	1,1	1			p.S403S	NM_015541	NP_056356			1,1	LRIG1_HUMAN	LRIG1	HGNC	Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)			10	1223	-		Lung NSC(201;0.0101)	UPI000004C5BE	403			Extracellular (Potential).|LRR 14.		SNV	LRIG1,synonymous_variant,p.=,ENST00000383703,;LRIG1,synonymous_variant,p.=,ENST00000273261,NM_015541.2;LRIG1,non_coding_transcript_exon_variant,,ENST00000496559,;LRIG1,non_coding_transcript_exon_variant,,ENST00000495037,;	uc003dmx.2	c.1209G>A	1734/5273	1	1			c.1209G>A						3	SNP	c.(1207-1209)TCG>TCA	7	7			skin(3)|ovary(2)	5	Broad	leucine-rich repeats and immunoglobulin-like			66449417		0.522	ENSG00000144749	8776	g.chr3:66449417C>T		integral to membrane								42.899034	KEEP	10	12	-1	25	29	10	12	-1	45.507597	25	29	0.275862	1	0	0	0	0	0	0	1	0	--	--		0	T			LRIG1_uc011bfu.1_Silent_p.S23S|LRIG1_uc003dmw.2_Silent_p.S69S|LRIG1_uc010hnz.2_Intron|LRIG1_uc010hoa.2_Silent_p.S427S	58	GBM-06-0644-TP	p.S403S	C	CTTCCAGCCCCGAGAATGCTC	NM_015541	NP_056356	66449417	Q96JA1	LRIG1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(55;0.00047)	10	1223	-	T	T		Lung NSC(201;0.0101)	Silent	403			Extracellular (Potential).|LRR 14.			
LRIG3	121227	broad.mit.edu	GRCh37	12	59272793	59272793	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-0749-01	TCGA-06-0749-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320743.3:c.1896C>A	p.Pro632=	p.P632=	ENST00000320743	NM_153377.4	632	ccC/ccA	0			1			T	P	uc001sqr.2	protein_coding	YES	CCDS8960.1			1896/3360									skin(3)|ovary(1)	4	c.(1894-1896)CCC>CCA			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF242,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	leucine-rich repeats and immunoglobulin-like				ENSP00000326759		14/19									COSM2151902,COSM3398963	14/19	.		ENST00000320743	Transcript				integral to membrane		ENSG00000139263	g.chr12:59272793G>T	30991			LOW								--	--	1																																		LRIG3_uc009zqh.2_Silent_p.P572P|LRIG3_uc010ssh.1_RNA	1,1	1			p.P632P	NM_153377	NP_700356			1,1	LRIG3_HUMAN	LRIG3	HGNC	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		F8VYZ5_HUMAN		14	2142	-			UPI0000035BB5	632			Ig-like C2-type 2.		SNV	LRIG3,synonymous_variant,p.=,ENST00000320743,NM_153377.4;LRIG3,synonymous_variant,p.=,ENST00000379141,NM_001136051.2;LRIG3,upstream_gene_variant,,ENST00000550825,;LRIG3,3_prime_UTR_variant,,ENST00000433272,;LRIG3,upstream_gene_variant,,ENST00000552646,;LRIG3,downstream_gene_variant,,ENST00000547329,;	uc001sqr.2	c.1896C>A	2183/4070	2	2			c.1896C>A						12	SNP	c.(1894-1896)CCC>CCA	45	45			skin(3)|ovary(1)	4	Broad	leucine-rich repeats and immunoglobulin-like			59272793		0.597	ENSG00000139263	8778	g.chr12:59272793G>T		integral to membrane								88.522791	KEEP	18	18	0.5	57	43	18	18	0.5	95.023718	57	43	0.263566	1	0	0	0	0	0	0	1	0	--	--		0	T			LRIG3_uc009zqh.2_Silent_p.P572P|LRIG3_uc010ssh.1_RNA	69	GBM-06-0749-TP	p.P632P	G	AGGCTATCTGGGGGGCTGGGT	NM_153377	NP_700356	59272793	Q6UXM1	LRIG3_HUMAN	0	GBM - Glioblastoma multiforme(1;1.17e-18)		14	2142	-	T	T			Silent	632			Ig-like C2-type 2.			
LRIG3	0	broad.mit.edu	GRCh37	12	59271381	59271381	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-4157-01	TCGA-14-4157-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320743.3:c.2337C>T	p.Asn779=	p.N779=	ENST00000320743	NM_153377.4	779	aaC/aaT	0	A:0.0007		1			A	N	uc001sqr.2	protein_coding	YES	CCDS8960.1			2337/3360									skin(3)|ovary(1)	4	c.(2335-2337)AAC>AAT			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF242,SMART_domains:SM00409,Superfamily_domains:SSF48726	leucine-rich repeats and immunoglobulin-like			A:0	ENSP00000326759		15/19	4.94E-05	0.000384				1.50E-05		6.06E-05	rs376403609,COSM1990110,COSM3398962	15/19	.		ENST00000320743	Transcript				integral to membrane		ENSG00000139263	g.chr12:59271381G>A	30991			LOW								--	--	1																																		LRIG3_uc009zqh.2_Silent_p.N719N|LRIG3_uc010ssh.1_RNA	0,1,1	1			p.N779N	NM_153377	NP_700356			0,1,1	LRIG3_HUMAN	LRIG3	HGNC	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		F8VYZ5_HUMAN		15	2583	-			UPI0000035BB5	779			Ig-like C2-type 3.		SNV	LRIG3,synonymous_variant,p.=,ENST00000320743,NM_153377.4;LRIG3,synonymous_variant,p.=,ENST00000379141,NM_001136051.2;LRIG3,upstream_gene_variant,,ENST00000550825,;LRIG3,3_prime_UTR_variant,,ENST00000433272,;LRIG3,upstream_gene_variant,,ENST00000552646,;LRIG3,downstream_gene_variant,,ENST00000547329,;	uc001sqr.2	c.2337C>T	2624/4070	1	1			c.2337C>T						12	SNP	c.(2335-2337)AAC>AAT	53	53			skin(3)|ovary(1)	4	Broad	leucine-rich repeats and immunoglobulin-like			59271381		0.532	ENSG00000139263	8778	g.chr12:59271381G>A		integral to membrane								203.615743	KEEP	29	42	-1	38	40	29	42	-1	203.689439	38	40	0.47619	1	0	0	0	0	0	0	1	0	--	--		0	A			LRIG3_uc009zqh.2_Silent_p.N719N|LRIG3_uc010ssh.1_RNA	152	GBM-14-4157-TP	p.N779N	G	TGAGGCGCACGTTTCCTCTCT	NM_153377	NP_700356	59271381	Q6UXM1	LRIG3_HUMAN	0	GBM - Glioblastoma multiforme(1;1.17e-18)		15	2583	-	A	A			Silent	779			Ig-like C2-type 3.			
LRIG3	0	broad.mit.edu	GRCh37	12	59271192	59271192	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-27-2526-01	TCGA-27-2526-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320743.3:c.2526T>C	p.Ile842=	p.I842=	ENST00000320743	NM_153377.4	842	atT/atC	0			1			G	I	uc001sqr.2	protein_coding	YES	CCDS8960.1			2526/3360									skin(3)|ovary(1)	4	c.(2524-2526)ATT>ATC			hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF242	leucine-rich repeats and immunoglobulin-like				ENSP00000326759		15/19									COSM3398960,COSM3398961	15/19	.		ENST00000320743	Transcript				integral to membrane		ENSG00000139263	g.chr12:59271192A>G	30991			LOW								--	--	1																																		LRIG3_uc009zqh.2_Silent_p.I782I|LRIG3_uc010ssh.1_RNA	1,1	1			p.I842I	NM_153377	NP_700356			1,1	LRIG3_HUMAN	LRIG3	HGNC	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		F8VYZ5_HUMAN		15	2772	-			UPI0000035BB5	842					SNV	LRIG3,synonymous_variant,p.=,ENST00000320743,NM_153377.4;LRIG3,synonymous_variant,p.=,ENST00000379141,NM_001136051.2;LRIG3,upstream_gene_variant,,ENST00000550825,;LRIG3,3_prime_UTR_variant,,ENST00000433272,;LRIG3,non_coding_transcript_exon_variant,,ENST00000552646,;LRIG3,downstream_gene_variant,,ENST00000547329,;	uc001sqr.2	c.2526T>C	2813/4070	3	3			c.2526T>C						12	SNP	c.(2524-2526)ATT>ATC	8	8			skin(3)|ovary(1)	4	Broad	leucine-rich repeats and immunoglobulin-like			59271192		0.493	ENSG00000139263	8778	g.chr12:59271192A>G		integral to membrane								58.189617	KEEP	12	13	-1	51	58	12	13	-1	70.114116	51	58	0.178862	1	0	0	0	0	0	0	1	0	--	--		0	G			LRIG3_uc009zqh.2_Silent_p.I782I|LRIG3_uc010ssh.1_RNA	203	GBM-27-2526-TP	p.I842I	A	CTGTGTTGGTAATGCTGCAAT	NM_153377	NP_700356	59271192	Q6UXM1	LRIG3_HUMAN	0	GBM - Glioblastoma multiforme(1;1.17e-18)		15	2772	-	G	G			Silent	842						
LRIG3	0	broad.mit.edu	GRCh37	12	59268350	59268351	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-41-5651-01	TCGA-41-5651-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320743.3:c.2700dupC	p.Cys901LeufsTer4	p.C901Lfs*4	ENST00000320743	NM_153377.4	900	-/C	0			1			G	-/X	uc001sqr.2	protein_coding	YES	CCDS8960.1			2700-2701/3360									skin(3)|ovary(1)	4	c.(2698-2703)ACCTGCfs			hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF242	leucine-rich repeats and immunoglobulin-like				ENSP00000326759		17/19										17/19	.		ENST00000320743	Transcript				integral to membrane		ENSG00000139263	g.chr12:59268350_59268351insG	30991			HIGH								--	--	1																																		LRIG3_uc009zqh.2_Frame_Shift_Ins_p.T840fs|LRIG3_uc010ssh.1_RNA		1			p.T900fs	NM_153377	NP_700356				LRIG3_HUMAN	LRIG3	HGNC	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		F8VYZ5_HUMAN		17	2946_2947	-			UPI0000035BB5	900_901					insertion	LRIG3,frameshift_variant,p.Cys901LeufsTer4,ENST00000320743,NM_153377.4;LRIG3,frameshift_variant,p.Cys841LeufsTer4,ENST00000379141,NM_001136051.2;LRIG3,frameshift_variant,p.Cys3LeufsTer4,ENST00000550825,;LRIG3,3_prime_UTR_variant,,ENST00000433272,;LRIG3,non_coding_transcript_exon_variant,,ENST00000552646,;	uc001sqr.2	c.2700_2701insC	2987-2988/4070	5	5			c.2700_2701insC						12	INS	c.(2698-2703)ACCTGCfs	7	7			skin(3)|ovary(1)	4	Broad	leucine-rich repeats and immunoglobulin-like			59268351		0.401	ENSG00000139263	8778	g.chr12:59268350_59268351insG		integral to membrane																					0.01	1	0	0	1	1	0	0	0	0	--	--		0	G			LRIG3_uc009zqh.2_Frame_Shift_Ins_p.T840fs|LRIG3_uc010ssh.1_RNA	258	GBM-41-5651-TP	p.T900fs	-	TCAATATGGCAGGTCCCTTTGA	NM_153377	NP_700356	59268350	Q6UXM1	LRIG3_HUMAN	0	GBM - Glioblastoma multiforme(1;1.17e-18)		17	2946_2947	-	G	G			Frame_Shift_Ins	900_901						
LRIG3	0	broad.mit.edu	GRCh37	12	59274532	59274532	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-76-4934-01	TCGA-76-4934-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320743.3:c.1632T>C	p.Ala544=	p.A544=	ENST00000320743	NM_153377.4	544	gcT/gcC	0			1			G	A	uc001sqr.2	protein_coding	YES	CCDS8960.1			1632/3360									skin(3)|ovary(1)	4	c.(1630-1632)GCT>GCC			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF242,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	leucine-rich repeats and immunoglobulin-like				ENSP00000326759		13/19									COSM3398964,COSM3398965	13/19	.		ENST00000320743	Transcript				integral to membrane		ENSG00000139263	g.chr12:59274532A>G	30991			LOW								--	--	1																																		LRIG3_uc009zqh.2_Silent_p.A484A|LRIG3_uc010ssh.1_RNA	1,1	1			p.A544A	NM_153377	NP_700356			1,1	LRIG3_HUMAN	LRIG3	HGNC	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		F8VYZ5_HUMAN		13	1878	-			UPI0000035BB5	544			Ig-like C2-type 1.		SNV	LRIG3,synonymous_variant,p.=,ENST00000320743,NM_153377.4;LRIG3,synonymous_variant,p.=,ENST00000379141,NM_001136051.2;LRIG3,synonymous_variant,p.=,ENST00000433272,;LRIG3,non_coding_transcript_exon_variant,,ENST00000547329,;LRIG3,upstream_gene_variant,,ENST00000552646,;	uc001sqr.2	c.1632T>C	1919/4070	3	3			c.1632T>C						12	SNP	c.(1630-1632)GCT>GCC	62	62			skin(3)|ovary(1)	4	Broad	leucine-rich repeats and immunoglobulin-like			59274532		0.488	ENSG00000139263	8778	g.chr12:59274532A>G		integral to membrane								246.34801	KEEP	50	40	-1	68	66	50	40	-1	248.347706	68	66	0.396226	1	0	0	0	0	0	0	1	0	--	--		0	G			LRIG3_uc009zqh.2_Silent_p.A484A|LRIG3_uc010ssh.1_RNA	272	GBM-76-4934-TP	p.A544A	A	TTTCCATTTCAGCATCATGCA	NM_153377	NP_700356	59274532	Q6UXM1	LRIG3_HUMAN	0	GBM - Glioblastoma multiforme(1;1.17e-18)		13	1878	-	G	G			Silent	544			Ig-like C2-type 1.			
LRIT1	26103	broad.mit.edu	GRCh37	10	85992166	85992166	+	synonymous_variant	Silent	SNP	G	G	A	rs142074653	byFrequency	TCGA-06-0743-01	TCGA-06-0743-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372105.3:c.1389C>T	p.Tyr463=	p.Y463=	ENST00000372105	NM_015613.2	463	taC/taT	0	A:0.0084	A:0.0098	1	A:0		A	Y	uc001kcz.1	protein_coding	YES	CCDS7373.1			1389/1872										0	c.(1387-1389)TAC>TAT			Superfamily_domains:SSF49265,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR24367:SF9,hmmpanther:PTHR24367,PROSITE_profiles:PS50853	retina specific protein PAL		A:0	A:0	ENSP00000361177	A:0	4-Apr	0.000824	0.00767	0.000522		0.000763	7.53E-05		0.000304	rs142074653,COSM920896	4-Apr	common_variant		ENST00000372105	Transcript		A:0.0026		integral to endoplasmic reticulum membrane		ENSG00000148602	g.chr10:85992166G>A	23404			LOW								--	--	1																																			0,1	1			p.Y463Y	NM_015613	NP_056428	A:0		0,1	LRIT1_HUMAN	LRIT1	HGNC	Q9P2V4	LRIT1_HUMAN					4	1411	-			UPI000006F66C	463			Fibronectin type-III.|Lumenal (Potential).		SNV	LRIT1,synonymous_variant,p.=,ENST00000372105,NM_015613.2;	uc001kcz.1	c.1389C>T	1411/2228	2	2			c.1389C>T						10	SNP	c.(1387-1389)TAC>TAT	24	24				0	Broad	retina specific protein PAL			85992166		0.582	ENSG00000148602	8779	g.chr10:85992166G>A		integral to endoplasmic reticulum membrane								52.908325	KEEP	10	8	-1	3	4	10	8	-1	53.694022	3	4	0.695652	1	0	0	0	0	0	0	1	0	--	--		0	A				65	GBM-06-0743-TP	p.Y463Y	G	CAAAGACCGCGTAGAGGACAC	NM_015613	NP_056428	85992166	Q9P2V4	LRIT1_HUMAN	0			4	1411	-	A	A			Silent	463			Fibronectin type-III.|Lumenal (Potential).			
LRP1	4035	broad.mit.edu	GRCh37	12	57598195	57598195	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01	TCGA-06-0122-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000243077.3:c.10954C>T	p.Arg3652Trp	p.R3652W	ENST00000243077	NM_002332.2	3652	Cgg/Tgg	0			1			T	R/W	uc001snd.2	protein_coding	YES	CCDS8932.1			10954/13635									ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22	c.(10954-10956)CGG>TGG			Gene3D:4.10.400.10,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF100	low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)			ENSP00000243077		71/89									COSM192274	71/89	.		ENST00000243077	Transcript			aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	ENSG00000123384	g.chr12:57598195C>T	6692			MODERATE		2	medium	getma.org/?cm=msa&ty=f&p=LRP1_HUMAN&rb=3652&re=3690&var=R3652W	getma.org/pdb.php?prot=LRP1_HUMAN&from=3652&to=3690&var=R3652W	getma.org/?cm=var&var=hg19,12,57598195,C,T&fts=all	R3652W	--	--	1																																			1	1		probably_damaging(0.993)	p.R3652W	NM_002332	NP_002323			1	LRP1_HUMAN	LRP1	HGNC	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	Q6LBN5_HUMAN,Q6LAF4_HUMAN		71	11420	+			UPI00001B044F	3652			Extracellular (Potential).|LDL-receptor class A 29.		SNV	LRP1,missense_variant,p.Arg3652Trp,ENST00000243077,NM_002332.2;LRP1,downstream_gene_variant,,ENST00000555124,;LRP1,splice_region_variant,,ENST00000451724,;LRP1,non_coding_transcript_exon_variant,,ENST00000556356,;LRP1,downstream_gene_variant,,ENST00000556247,;LRP1,downstream_gene_variant,,ENST00000555941,;	uc001snd.2	c.10954C>T	11420/14897	2	2			c.10954C>T						12	SNP	c.(10954-10956)CGG>TGG	45	45			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22	Broad	low density lipoprotein-related protein 1		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	57598195		0.622	ENSG00000123384	8783	g.chr12:57598195C>T	aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			1456			1456	43.650568	KEEP	10	10	-1	27	23	10	10	-1	45.928681	27	23	0.295082	1	0	0	0	0	1	0	0	0	--	--		0	T				10	GBM-06-0122-TP	p.R3652W	C	GGCACCAGTGCGGACCTGCCC	NM_002332	NP_002323	57598195	Q07954	LRP1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(357;0.0103)	71	11420	+	T	T			Missense_Mutation	3652			Extracellular (Potential).|LDL-receptor class A 29.			
LRP1	4035	broad.mit.edu	GRCh37	12	57569290	57569290	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0154-01	TCGA-06-0154-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000243077.3:c.3595G>C	p.Ala1199Pro	p.A1199P	ENST00000243077	NM_002332.2	1199	Gca/Cca	0			1			C	A/P	uc001snd.2	protein_coding	YES	CCDS8932.1			3595/13635									ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22	c.(3595-3597)GCA>CCA			Gene3D:2.10.25.10,Pfam_domain:PF14670,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF100,SMART_domains:SM00181,Superfamily_domains:SSF57184	low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)			ENSP00000243077		23/89									COSM2149897	23/89	.		ENST00000243077	Transcript			aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	ENSG00000123384	g.chr12:57569290G>C	6692			MODERATE		1.895	low	getma.org/?cm=msa&ty=f&p=LRP1_HUMAN&rb=1183&re=1222&var=A1199P	getma.org/pdb.php?prot=LRP1_HUMAN&from=1183&to=1222&var=A1199P	getma.org/?cm=var&var=hg19,12,57569290,G,C&fts=all	A1199P	--	--	1																																OREG0021937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1	1		possibly_damaging(0.649)	p.A1199P	NM_002332	NP_002323			1	LRP1_HUMAN	LRP1	HGNC	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	Q6LBN5_HUMAN,Q6LAF4_HUMAN		23	4061	+			UPI00001B044F	1199			EGF-like 5.|Extracellular (Potential).		SNV	LRP1,missense_variant,p.Ala1199Pro,ENST00000243077,NM_002332.2;	uc001snd.2	c.3595G>C	4061/14897	3	3			c.3595G>C						12	SNP	c.(3595-3597)GCA>CCA	52	52			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22	Broad	low density lipoprotein-related protein 1		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	57569290		0.602	ENSG00000123384	8783	g.chr12:57569290G>C	aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			1456			1456	61.669413	KEEP	24	9	-1	35	29	24	9	-1	62.793259	35	29	0.350877	1	0	0	0	0	1	0	0	0	--	--		0	C	OREG0021937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		26	GBM-06-0154-TP	p.A1199P	G	CTGCTCAGTGGCACCTGGCGA	NM_002332	NP_002323	57569290	Q07954	LRP1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(357;0.0103)	23	4061	+	C	C			Missense_Mutation	1199			EGF-like 5.|Extracellular (Potential).			
LRP1	4035	broad.mit.edu	GRCh37	12	57563089	57563089	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-06-5417-01	TCGA-06-5417-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000243077.3:c.3163+1del		p.Q1054fs	ENST00000243077	NM_002332.2	1054	caG/ca	0			1			-	Q/X	uc001snd.2	protein_coding	YES	CCDS8932.1			3162/13635									ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22	c.(3160-3162)CAGfs			hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF100	low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)			ENSP00000243077		20/89									COSM2153289	20/89	.		ENST00000243077	Transcript			aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	ENSG00000123384	g.chr12:57563089delG	6692	2		HIGH								--	--	1																																		LRP1_uc009zpi.1_RNA	1	1			p.Q1054fs	NM_002332	NP_002323			1	LRP1_HUMAN	LRP1	HGNC	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	Q6LBN5_HUMAN,Q6LAF4_HUMAN		20	3628	+			UPI00001B044F	1054			Extracellular (Potential).		deletion	LRP1,frameshift_variant,,ENST00000243077,NM_002332.2;LRP1,downstream_gene_variant,,ENST00000553446,;LRP1,downstream_gene_variant,,ENST00000556830,;	uc001snd.2	c.3162delG	3628/14897	5	5			c.3162delG						12	DEL	c.(3160-3162)CAGfs	33	33			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22	Broad	low density lipoprotein-related protein 1		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	57563089		0.557	ENSG00000123384	8783	g.chr12:57563089delG	aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity		p.Q1054Q(TEN-Tumor)	1456		p.Q1054Q(TEN-Tumor)	1456														0.34	1	1	0	1	0	0	0	0	0	--	--		0	-			LRP1_uc009zpi.1_RNA	99	GBM-06-5417-TP	p.Q1054fs	G	GCACCAACCAGGGTGGGCACC	NM_002332	NP_002323	57563089	Q07954	LRP1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(357;0.0103)	20	3628	+	-	-			Frame_Shift_Del	1054			Extracellular (Potential).			
LRP1	0	broad.mit.edu	GRCh37	12	57603612	57603612	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-5211-01	TCGA-28-5211-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000243077.3:c.12400T>C	p.Ser4134Pro	p.S4134P	ENST00000243077	NM_002332.2	4134	Tct/Cct	0			1			C	S/P	uc001snd.2	protein_coding	YES	CCDS8932.1			12400/13635									ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22	c.(12400-12402)TCT>CCT			Gene3D:2.120.10.30,Superfamily_domains:SSF63825	low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)			ENSP00000243077		80/89									COSM3398926	80/89	.		ENST00000243077	Transcript			aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	ENSG00000123384	g.chr12:57603612T>C	6692			MODERATE		1.01	low	getma.org/?cm=msa&ty=f&p=LRP1_HUMAN&rb=4100&re=4299&var=S4134P	getma.org/pdb.php?prot=LRP1_HUMAN&from=4100&to=4299&var=S4134P	getma.org/?cm=var&var=hg19,12,57603612,T,C&fts=all	S4134P	--	--	1																																			1	1		possibly_damaging(0.513)	p.S4134P	NM_002332	NP_002323			1	LRP1_HUMAN	LRP1	HGNC	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	Q6LBN5_HUMAN,Q6LAF4_HUMAN		80	12866	+			UPI00001B044F	4134			Extracellular (Potential).		SNV	LRP1,missense_variant,p.Ser4134Pro,ENST00000243077,NM_002332.2;LRP1,non_coding_transcript_exon_variant,,ENST00000556356,;LRP1,downstream_gene_variant,,ENST00000451724,;	uc001snd.2	c.12400T>C	12866/14897	3	3			c.12400T>C						12	SNP	c.(12400-12402)TCT>CCT	50	50			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22	Broad	low density lipoprotein-related protein 1		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	57603612		0.572	ENSG00000123384	8783	g.chr12:57603612T>C	aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			1456			1456	9.659357	KEEP	2	3	-1	17	13	2	3	-1	13.041402	17	13	0.16129	1	0	0	0	0	1	0	0	0	--	--		0	C				219	GBM-28-5211-TP	p.S4134P	T	GAGCCACGCCTCTGACGTGGT	NM_002332	NP_002323	57603612	Q07954	LRP1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(357;0.0103)	80	12866	+	C	C			Missense_Mutation	4134			Extracellular (Potential).			
LRP1	0	broad.mit.edu	GRCh37	12	57562923	57562923	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-5213-01	TCGA-28-5213-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000243077.3:c.2996A>G	p.Asp999Gly	p.D999G	ENST00000243077	NM_002332.2	999	gAc/gGc	0			1			G	D/G	uc001snd.2	protein_coding	YES	CCDS8932.1			2996/13635									ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22	c.(2995-2997)GAC>GGC			Gene3D:4.10.400.10,Pfam_domain:PF00057,Prints_domain:PR00261,PROSITE_patterns:PS01209,PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF100,Low_complexity_(Seg):seg,SMART_domains:SM00192,Superfamily_domains:SSF57424	low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)			ENSP00000243077		20/89									COSM3398921	20/89	.		ENST00000243077	Transcript			aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	ENSG00000123384	g.chr12:57562923A>G	6692			MODERATE		2.825	medium	getma.org/?cm=msa&ty=f&p=LRP1_HUMAN&rb=974&re=1011&var=D999G	getma.org/pdb.php?prot=LRP1_HUMAN&from=974&to=1011&var=D999G	getma.org/?cm=var&var=hg19,12,57562923,A,G&fts=all	D999G	2.465	medium	1																																		LRP1_uc009zpi.1_RNA	1	1		possibly_damaging(0.566)	p.D999G	NM_002332	NP_002323			1	LRP1_HUMAN	LRP1	HGNC	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	Q6LBN5_HUMAN,Q6LAF4_HUMAN		20	3462	+			UPI00001B044F	999			Extracellular (Potential).|LDL-receptor class A 6.		SNV	LRP1,missense_variant,p.Asp999Gly,ENST00000243077,NM_002332.2;LRP1,splice_region_variant,,ENST00000553446,;LRP1,downstream_gene_variant,,ENST00000556830,;	uc001snd.2	c.2996A>G	3462/14897	3	3			c.2996A>G						12	SNP	c.(2995-2997)GAC>GGC	6	6			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22	Broad	low density lipoprotein-related protein 1		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	57562923		0.627	ENSG00000123384	8783	g.chr12:57562923A>G	aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			1456			1456	104.763512	KEEP	27	15	-1	83	71	27	15	-1	116.328618	83	71	0.22619	1	0	0	0	0	1	0	0	0	2.465	medium		0	G			LRP1_uc009zpi.1_RNA	220	GBM-28-5213-TP	p.D999G	A	CCACCGCCAGACAATGACTGT	NM_002332	NP_002323	57562923	Q07954	LRP1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(357;0.0103)	20	3462	+	G	G			Missense_Mutation	999			Extracellular (Potential).|LDL-receptor class A 6.			
LRP1	0	broad.mit.edu	GRCh37	12	57571370	57571370	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5215-01	TCGA-28-5215-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000243077.3:c.4357G>A	p.Ala1453Thr	p.A1453T	ENST00000243077	NM_002332.2	1453	Gcc/Acc	0			1			A	A/T	uc001snd.2	protein_coding	YES	CCDS8932.1			4357/13635									ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22	c.(4357-4359)GCC>ACC			Gene3D:2.120.10.30,PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF100,SMART_domains:SM00135,Superfamily_domains:SSF63825	low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)			ENSP00000243077		26/89									COSM3398922	26/89	.		ENST00000243077	Transcript			aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	ENSG00000123384	g.chr12:57571370G>A	6692			MODERATE		2.925	medium	getma.org/?cm=msa&ty=f&p=LRP1_HUMAN&rb=1444&re=1626&var=A1453T	getma.org/pdb.php?prot=LRP1_HUMAN&from=1444&to=1626&var=A1453T	getma.org/?cm=var&var=hg19,12,57571370,G,A&fts=all	A1453T	--	--	1																																			1	1		probably_damaging(0.983)	p.A1453T	NM_002332	NP_002323			1	LRP1_HUMAN	LRP1	HGNC	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	Q6LBN5_HUMAN,Q6LAF4_HUMAN		26	4823	+			UPI00001B044F	1453			Extracellular (Potential).|LDL-receptor class B 11.		SNV	LRP1,missense_variant,p.Ala1453Thr,ENST00000243077,NM_002332.2;	uc001snd.2	c.4357G>A	4823/14897	2	2			c.4357G>A						12	SNP	c.(4357-4359)GCC>ACC	28	28			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22	Broad	low density lipoprotein-related protein 1		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	57571370		0.657	ENSG00000123384	8783	g.chr12:57571370G>A	aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			1456			1456	51.688705	KEEP	8	16	-1	23	24	8	16	-1	52.70465	23	24	0.365079	1	0	0	0	0	1	0	0	0	--	--		0	A				222	GBM-28-5215-TP	p.A1453T	G	TTGGATTGACGCCAGGTCAGC	NM_002332	NP_002323	57571370	Q07954	LRP1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(357;0.0103)	26	4823	+	A	A			Missense_Mutation	1453			Extracellular (Potential).|LDL-receptor class B 11.			
LRP1	0	broad.mit.edu	GRCh37	12	57581169	57581169	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-76-4934-01	TCGA-76-4934-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000243077.3:c.6961G>T	p.Glu2321Ter	p.E2321*	ENST00000243077	NM_002332.2	2321	Gag/Tag	0			1			T	E/*	uc001snd.2	protein_coding	YES	CCDS8932.1			6961/13635									ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22	c.(6961-6963)GAG>TAG			Gene3D:2.120.10.30,PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF100,Superfamily_domains:SSF63825	low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)			ENSP00000243077		42/89									COSM3398923	42/89	.		ENST00000243077	Transcript			aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	ENSG00000123384	g.chr12:57581169G>T	6692			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,12,57581169,G,T&fts=all	E2321*	--	--	1																																			1	1			p.E2321*	NM_002332	NP_002323			1	LRP1_HUMAN	LRP1	HGNC	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	Q6LBN5_HUMAN,Q6LAF4_HUMAN		42	7427	+			UPI00001B044F	2321			LDL-receptor class B 22.|Extracellular (Potential).		SNV	LRP1,stop_gained,p.Glu2321Ter,ENST00000243077,NM_002332.2;LRP1,stop_gained,p.Glu7Ter,ENST00000554118,;	uc001snd.2	c.6961G>T	7427/14897	5	2			c.6961G>T						12	SNP	c.(6961-6963)GAG>TAG	43	43			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22	Broad	low density lipoprotein-related protein 1		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	57581169		0.607	ENSG00000123384	8783	g.chr12:57581169G>T	aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			1456			1456	-29.93569	KEEP	2	2	0.5	83	96	2	2	0.5	7.783624	83	96	0.026316	1	0	0	0	0	0	1	0	0	--	--		0	T				272	GBM-76-4934-TP	p.E2321*	G	AGGGGCCTTCGAGCGTGAGAC	NM_002332	NP_002323	57581169	Q07954	LRP1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(357;0.0103)	42	7427	+	T	T			Nonsense_Mutation	2321			LDL-receptor class B 22.|Extracellular (Potential).			
LRP1	4035		GRCh37	12	57581220	57581220	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000243077.3:c.7012G>A	p.Val2338Ile	p.V2338I	ENST00000243077	NM_002332.2	2338	Gtt/Att	0																																																																																																																																																																																																																																												
LRP11	84918	broad.mit.edu	GRCh37	6	150174287	150174287	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs150922217	byFrequency	TCGA-06-0646-01	TCGA-06-0646-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000239367.2:c.623C>T	p.Ala208Val	p.A208V	ENST00000239367	NM_032832.5	208	gCg/gTg	0	A:0		1			A	A/V	uc003qng.2	protein_coding	YES	CCDS5220.1			623/1503										0	c.(622-624)GCG>GTG			hmmpanther:PTHR10083:SF197,hmmpanther:PTHR10083,Superfamily_domains:SSF49299	low density lipoprotein receptor-related protein			A:0.0002	ENSP00000239367		7-Feb	6.59E-05			0.000232		7.59E-05		6.33E-05	rs150922217,COSM1074477,COSM3410656	7-Feb	.		ENST00000239367	Transcript				integral to membrane	receptor activity	ENSG00000120256	g.chr6:150174287G>A	16936			MODERATE		0.505	neutral	getma.org/?cm=msa&ty=f&p=LRP11_HUMAN&rb=185&re=307&var=A208V	NA	getma.org/?cm=var&var=hg19,6,150174287,G,A&fts=all	A208V	--	--	1																																		LRP11_uc003qnh.1_Missense_Mutation_p.A208V	0,1,1	1		benign(0.107)	p.A208V	NM_032832	NP_116221		deleterious(0.01)	0,1,1	LRP11_HUMAN	LRP11	HGNC	Q86VZ4	LRP11_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)	B4DS68_HUMAN		2	947	-		Ovarian(120;0.0907)	UPI0000042403	208			Extracellular (Potential).		SNV	LRP11,missense_variant,p.Ala208Val,ENST00000239367,NM_032832.5;LRP11,missense_variant,p.Ala208Val,ENST00000367368,;LRP11,5_prime_UTR_variant,,ENST00000546019,;RP11-350J20.12,non_coding_transcript_exon_variant,,ENST00000472053,;	uc003qng.2	c.623C>T	629/3260	1	1			c.623C>T						6	SNP	c.(622-624)GCG>GTG	58	58				0	Broad	low density lipoprotein receptor-related protein			150174287		0.438	ENSG00000120256	8785	g.chr6:150174287G>A		integral to membrane	receptor activity							-26.933168	KEEP	4	1	-1	75	83	4	1	-1	7.615121	75	83	0.028369	1	0	0	0	0	1	0	0	0	--	--		0	A			LRP11_uc003qnh.1_Missense_Mutation_p.A208V	60	GBM-06-0646-TP	p.A208V	G	AAGTGGAGGCGCATCCTTTTC	NM_032832	NP_116221	150174287	Q86VZ4	LRP11_HUMAN	0	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)	2	947	-	A	A		Ovarian(120;0.0907)	Missense_Mutation	208			Extracellular (Potential).			
LRP12	0	broad.mit.edu	GRCh37	8	105503293	105503293	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-14-1823-01	TCGA-14-1823-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276654.5:c.2188C>G	p.Leu730Val	p.L730V	ENST00000276654	NM_013437.4	730	Ctc/Gtc	0			1			C	L/V	uc003yma.2	protein_coding	YES	CCDS6303.1			2188/2580										0	c.(2188-2190)CTC>GTC			hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF216	low density lipoprotein-related protein 12				ENSP00000276654		7-Jul									COSM3412666	7-Jul	.		ENST00000276654	Transcript			endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	ENSG00000147650	g.chr8:105503293G>C	31708			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=LRP12_HUMAN&rb=609&re=857&var=L730V	NA	getma.org/?cm=var&var=hg19,8,105503293,G,C&fts=all	L730V	--	--	1																																		LRP12_uc003ymb.2_Missense_Mutation_p.L711V|LRP12_uc003ylz.2_Missense_Mutation_p.L136V	1	1		probably_damaging(0.996)	p.L730V	NM_013437	NP_038465		tolerated(0.11)	1	LRP12_HUMAN	LRP12	HGNC	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		E5RIW8_HUMAN,B3KWZ8_HUMAN		7	2283	-			UPI0000047A9F	730			Cytoplasmic (Potential).		SNV	LRP12,missense_variant,p.Leu730Val,ENST00000276654,NM_013437.4;LRP12,missense_variant,p.Leu711Val,ENST00000424843,NM_001135703.2;LRP12,downstream_gene_variant,,ENST00000523007,;LRP12,non_coding_transcript_exon_variant,,ENST00000518375,;LRP12,downstream_gene_variant,,ENST00000522046,;	uc003yma.2	c.2188C>G	2297/4112	3	3			c.2188C>G						8	SNP	c.(2188-2190)CTC>GTC	56	56				0	Broad	low density lipoprotein-related protein 12			105503293		0.493	ENSG00000147650	8786	g.chr8:105503293G>C	endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding							83.824039	KEEP	16	13	-1	31	26	16	13	-1	85.619801	31	26	0.337662	1	0	0	0	0	1	0	0	0	--	--		0	C			LRP12_uc003ymb.2_Missense_Mutation_p.L711V|LRP12_uc003ylz.2_Missense_Mutation_p.L136V	147	GBM-14-1823-TP	p.L730V	G	ATACGACTGAGTGCACTTGTA	NM_013437	NP_038465	105503293	Q9Y561	LRP12_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		7	2283	-	C	C			Missense_Mutation	730			Cytoplasmic (Potential).			
LRP1B	53353	broad.mit.edu	GRCh37	2	141072506	141072506	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0122-01	TCGA-06-0122-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389484.3:c.12803T>C	p.Leu4268Pro	p.L4268P	ENST00000389484	NM_018557.2	4268	cTa/cCa	0			1			G	L/P	uc002tvj.1	protein_coding	YES	CCDS2182.1			12803/13800									lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50	c.(12802-12804)CTA>CCA			Gene3D:2.10.25.10,Pfam_domain:PF00008,PROSITE_profiles:PS50026,SMART_domains:SM00179,SMART_domains:SM00181	low density lipoprotein-related protein 1B				ENSP00000374135		83/91									COSM2149197	83/91	.		ENST00000389484	Transcript			protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	ENSG00000168702	g.chr2:141072506A>G	6693			MODERATE		1.115	low	getma.org/?cm=msa&ty=f&p=LRP1B_HUMAN&rb=4248&re=4283&var=L4268P	NA	getma.org/?cm=var&var=hg19,2,141072506,A,G&fts=all	L4268P	--	--	1				TSP Lung(27;0.18)																															1	1		probably_damaging(0.928)	p.L4268P	NM_018557	NP_061027			1	LRP1B_HUMAN	LRP1B	HGNC	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN		83	13775	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	UPI00001B045B	4268			Extracellular (Potential).|EGF-like 11.		SNV	LRP1B,missense_variant,p.Leu4268Pro,ENST00000389484,NM_018557.2;LRP1B,missense_variant,p.Leu500Pro,ENST00000437977,;	uc002tvj.1	c.12803T>C	13775/16535	3	3			c.12803T>C						2	SNP	c.(12802-12804)CTA>CCA	6	6			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50	Broad	low density lipoprotein-related protein 1B			141072506		0.353	ENSG00000168702	8787	g.chr2:141072506A>G	protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	Colon(99;50 2074 2507 20106)		2546	Colon(99;50 2074 2507 20106)		2546	96.386439	KEEP	17	14	-1	36	14	17	14	-1	97.441285	36	14	0.373333	1	0	0	0	0	1	0	0	0	--	--	TSP Lung(27;0.18)	0	G				10	GBM-06-0122-TP	p.L4268P	A	ATATTTACCTAGAACTGATGG	NM_018557	NP_061027	141072506	Q9NZR2	LRP1B_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	83	13775	-	G	G		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	Missense_Mutation	4268			Extracellular (Potential).|EGF-like 11.			
LRP1B	0	broad.mit.edu	GRCh37	2	141130669	141130669	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs145915063		TCGA-12-3653-01	TCGA-12-3653-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389484.3:c.10676G>A	p.Arg3559Gln	p.R3559Q	ENST00000389484	NM_018557.2	3559	cGg/cAg	0	T:0.0007	T:0	1	T:0.0014		T	R/Q	uc002tvj.1	protein_coding	YES	CCDS2182.1			10676/13800									lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50	c.(10675-10677)CGG>CAG			Gene3D:4.10.400.10,Pfam_domain:PF00057,PROSITE_profiles:PS50068,SMART_domains:SM00181,SMART_domains:SM00192,Superfamily_domains:SSF57424	low density lipoprotein-related protein 1B		T:0	T:0.0002	ENSP00000374135	T:0	69/91	0.000132	0.000481	0.000783			3.00E-05			rs145915063,COSM3406913	69/91	common_variant		ENST00000389484	Transcript		T:0.0002	protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	ENSG00000168702	g.chr2:141130669C>T	6693			MODERATE		0.07	neutral	getma.org/?cm=msa&ty=f&p=LRP1B_HUMAN&rb=3551&re=3587&var=R3559Q	getma.org/pdb.php?prot=LRP1B_HUMAN&from=3551&to=3587&var=R3559Q	getma.org/?cm=var&var=hg19,2,141130669,C,T&fts=all	R3559Q	--	--	1				TSP Lung(27;0.18)																															0,1	1		benign(0)	p.R3559Q	NM_018557	NP_061027	T:0		0,1	LRP1B_HUMAN	LRP1B	HGNC	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN		69	11648	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	UPI00001B045B	3559			Extracellular (Potential).|LDL-receptor class A 27.		SNV	LRP1B,missense_variant,p.Arg3559Gln,ENST00000389484,NM_018557.2;	uc002tvj.1	c.10676G>A	11648/16535	1	1			c.10676G>A						2	SNP	c.(10675-10677)CGG>CAG	10	10			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50	Broad	low density lipoprotein-related protein 1B			141130669		0.368	ENSG00000168702	8787	g.chr2:141130669C>T	protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	Colon(99;50 2074 2507 20106)	p.R3559L(AML193-Tumor)	2546	Colon(99;50 2074 2507 20106)	p.R3559L(AML193-Tumor)	2546	319.899114	KEEP	39	64	-1	48	60	39	64	-1	319.950031	48	60	0.483092	1	0	0	0	0	1	0	0	0	--	--	TSP Lung(27;0.18)	0	T				128	GBM-12-3653-TP	p.R3559Q	C	ATTGGAACACCGGAACTGATC	NM_018557	NP_061027	141130669	Q9NZR2	LRP1B_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	69	11648	-	T	T		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	Missense_Mutation	3559			Extracellular (Potential).|LDL-receptor class A 27.			
LRP1B	0	broad.mit.edu	GRCh37	2	141081530	141081530	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-14-0789-01	TCGA-14-0789-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389484.3:c.12446A>G	p.Glu4149Gly	p.E4149G	ENST00000389484	NM_018557.2	4149	gAg/gGg	0			1			C	E/G	uc002tvj.1	protein_coding	YES	CCDS2182.1			12446/13800								p.E4149*(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50	c.(12445-12447)GAG>GGG			Gene3D:2.120.10.30,Superfamily_domains:SSF63825	low density lipoprotein-related protein 1B				ENSP00000374135		81/91									COSM3406911	81/91	.		ENST00000389484	Transcript			protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	ENSG00000168702	g.chr2:141081530T>C	6693			MODERATE		2.275	medium	getma.org/?cm=msa&ty=f&p=LRP1B_HUMAN&rb=4081&re=4247&var=E4149G	getma.org/pdb.php?prot=LRP1B_HUMAN&from=4081&to=4247&var=E4149G	getma.org/?cm=var&var=hg19,2,141081530,T,C&fts=all	E4149G	--	--	1				TSP Lung(27;0.18)																															1	1		benign(0.403)	p.E4149G	NM_018557	NP_061027			1	LRP1B_HUMAN	LRP1B	HGNC	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN		81	13418	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	UPI00001B045B	4149			Extracellular (Potential).		SNV	LRP1B,missense_variant,p.Glu4149Gly,ENST00000389484,NM_018557.2;LRP1B,missense_variant,p.Glu381Gly,ENST00000437977,;	uc002tvj.1	c.12446A>G	13418/16535	3	3			c.12446A>G						2	SNP	c.(12445-12447)GAG>GGG	63	63		p.E4149*(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50	Broad	low density lipoprotein-related protein 1B			141081530		0.289	ENSG00000168702	8787	g.chr2:141081530T>C	protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	Colon(99;50 2074 2507 20106)		2546	Colon(99;50 2074 2507 20106)		2546	70.016626	KEEP	14	13	-1	33	28	14	13	-1	73.503171	33	28	0.278481	1	0	0	0	0	1	0	0	0	--	--	TSP Lung(27;0.18)	0	C				136	GBM-14-0789-TP	p.E4149G	T	AGCTAAGTACTCTACTGAACC	NM_018557	NP_061027	141081530	Q9NZR2	LRP1B_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	81	13418	-	C	C		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	Missense_Mutation	4149			Extracellular (Potential).			
LRP1B	0	broad.mit.edu	GRCh37	2	141072536	141072536	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-15-0742-01	TCGA-15-0742-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389484.3:c.12773A>G	p.Gln4258Arg	p.Q4258R	ENST00000389484	NM_018557.2	4258	cAg/cGg	0			1			C	Q/R	uc002tvj.1	protein_coding	YES	CCDS2182.1			12773/13800									lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50	c.(12772-12774)CAG>CGG			Gene3D:2.10.25.10,Pfam_domain:PF00008,PROSITE_profiles:PS50026,SMART_domains:SM00179,SMART_domains:SM00181	low density lipoprotein-related protein 1B				ENSP00000374135		83/91									COSM3406909	83/91	.		ENST00000389484	Transcript			protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	ENSG00000168702	g.chr2:141072536T>C	6693			MODERATE		0.39	neutral	getma.org/?cm=msa&ty=f&p=LRP1B_HUMAN&rb=4248&re=4283&var=Q4258R	NA	getma.org/?cm=var&var=hg19,2,141072536,T,C&fts=all	Q4258R	--	--	1				TSP Lung(27;0.18)																															1	1		benign(0.227)	p.Q4258R	NM_018557	NP_061027			1	LRP1B_HUMAN	LRP1B	HGNC	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN		83	13745	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	UPI00001B045B	4258			Extracellular (Potential).|EGF-like 11.		SNV	LRP1B,missense_variant,p.Gln4258Arg,ENST00000389484,NM_018557.2;LRP1B,missense_variant,p.Gln490Arg,ENST00000437977,;	uc002tvj.1	c.12773A>G	13745/16535	3	3			c.12773A>G						2	SNP	c.(12772-12774)CAG>CGG	61	61			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50	Broad	low density lipoprotein-related protein 1B			141072536		0.373	ENSG00000168702	8787	g.chr2:141072536T>C	protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	Colon(99;50 2074 2507 20106)		2546	Colon(99;50 2074 2507 20106)		2546	155.602551	KEEP	26	34	-1	50	29	26	34	-1	156.440548	50	29	0.408696	1	0	0	0	0	1	0	0	0	--	--	TSP Lung(27;0.18)	0	C				153	GBM-15-0742-TP	p.Q4258R	T	TCCTCCATTCTGGCAGTAGTT	NM_018557	NP_061027	141072536	Q9NZR2	LRP1B_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	83	13745	-	C	C		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	Missense_Mutation	4258			Extracellular (Potential).|EGF-like 11.			
LRP1B	0	broad.mit.edu	GRCh37	2	141072633	141072633	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-15-0742-01	TCGA-15-0742-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389484.3:c.12676A>G	p.Arg4226Gly	p.R4226G	ENST00000389484	NM_018557.2	4226	Aga/Gga	0			1			C	R/G	uc002tvj.1	protein_coding	YES	CCDS2182.1			12676/13800									lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50	c.(12676-12678)AGA>GGA			Gene3D:2.10.25.10,PROSITE_profiles:PS50026,SMART_domains:SM00181	low density lipoprotein-related protein 1B				ENSP00000374135		83/91									COSM3406910	83/91	.		ENST00000389484	Transcript			protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	ENSG00000168702	g.chr2:141072633T>C	6693			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=LRP1B_HUMAN&rb=4213&re=4246&var=R4226G	NA	getma.org/?cm=var&var=hg19,2,141072633,T,C&fts=all	R4226G	--	--	1				TSP Lung(27;0.18)																															1	1		benign(0.152)	p.R4226G	NM_018557	NP_061027			1	LRP1B_HUMAN	LRP1B	HGNC	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN		83	13648	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	UPI00001B045B	4226			Extracellular (Potential).|EGF-like 10.		SNV	LRP1B,missense_variant,p.Arg4226Gly,ENST00000389484,NM_018557.2;LRP1B,missense_variant,p.Arg458Gly,ENST00000437977,;	uc002tvj.1	c.12676A>G	13648/16535	3	3			c.12676A>G						2	SNP	c.(12676-12678)AGA>GGA	57	57			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50	Broad	low density lipoprotein-related protein 1B			141072633		0.343	ENSG00000168702	8787	g.chr2:141072633T>C	protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	Colon(99;50 2074 2507 20106)		2546	Colon(99;50 2074 2507 20106)		2546	177.094284	KEEP	25	29	-1	35	19	25	29	-1	177.114136	35	19	0.484848	1	0	0	0	0	1	0	0	0	--	--	TSP Lung(27;0.18)	0	C				153	GBM-15-0742-TP	p.R4226G	T	AAAATGCATCTTCCTCCATTT	NM_018557	NP_061027	141072633	Q9NZR2	LRP1B_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	83	13648	-	C	C		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	Missense_Mutation	4226			Extracellular (Potential).|EGF-like 10.			
LRP1B	0	broad.mit.edu	GRCh37	2	141092130	141092130	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C			TCGA-15-0742-01	TCGA-15-0742-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389484.3:c.12117-2A>G		p.X4039_splice	ENST00000389484	NM_018557.2			0			1			C		uc002tvj.1	protein_coding	YES	CCDS2182.1			12117/13800									lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50	c.e79-1				low density lipoprotein-related protein 1B				ENSP00000374135											COSM3406912		.		ENST00000389484	Transcript			protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	ENSG00000168702	g.chr2:141092130T>C	6693			HIGH	78/90							--	--	1				TSP Lung(27;0.18)																															1	1			p.G4039_splice	NM_018557	NP_061027			1	LRP1B_HUMAN	LRP1B	HGNC	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	Q8WY27_HUMAN,Q8WY26_HUMAN,Q580W7_HUMAN,Q53TB8_HUMAN,Q53S76_HUMAN,Q53S73_HUMAN,Q53S26_HUMAN,Q53RL0_HUMAN,Q53RG4_HUMAN,Q53RA0_HUMAN,Q53QP5_HUMAN,Q53QM8_HUMAN,Q4ZG53_HUMAN,Q4ZFV5_HUMAN		79	13089	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	UPI00001B045B						SNV	LRP1B,splice_acceptor_variant,,ENST00000389484,NM_018557.2;LRP1B,splice_acceptor_variant,,ENST00000437977,;	uc002tvj.1	c.12117_splice	-/16535	5	4			c.12117_splice						2	SNP	c.e79-1	44	44			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50	Broad	low density lipoprotein-related protein 1B			141092130		0.358	ENSG00000168702	8787	g.chr2:141092130T>C	protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	Colon(99;50 2074 2507 20106)		2546	Colon(99;50 2074 2507 20106)		2546	182.585594	KEEP	30	35	-1	46	44	30	35	-1	183.326609	46	44	0.422535	1	0	0	0	0	0	0	0	1	--	--	TSP Lung(27;0.18)	0	C				153	GBM-15-0742-TP	p.G4039_splice	T	TACATCATCCTGAAGAGAGCG	NM_018557	NP_061027	141092130	Q9NZR2	LRP1B_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	79	13089	-	C	C		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	Splice_Site							
LRP2	4036	broad.mit.edu	GRCh37	2	170060768	170060768	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263816.3:c.7729C>T	p.Arg2577Cys	p.R2577C	ENST00000263816	NM_004525.2	2577	Cgc/Tgc	0	A:0		1			A	R/C	uc002ues.2	protein_coding	YES	CCDS2232.1			7729/13968									ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29	c.(7729-7731)CGC>TGC			PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,Gene3D:2.120.10.30,Pfam_domain:PF00058,SMART_domains:SM00135,Superfamily_domains:SSF63825	low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)		A:0.0001	ENSP00000263816		42/79	8.24E-06					1.51E-05			rs367997832,COSM3407040	42/79	.		ENST00000263816	Transcript	1		hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	ENSG00000081479	g.chr2:170060768G>A	6694			MODERATE		3.03	medium	getma.org/?cm=msa&ty=f&p=LRP2_HUMAN&rb=2563&re=2601&var=R2577C	getma.org/pdb.php?prot=LRP2_HUMAN&from=2563&to=2601&var=R2577C	getma.org/?cm=var&var=hg19,2,170060768,G,A&fts=all	R2577C	--	--	1																																			0,1	1		possibly_damaging(0.537)	p.R2577C	NM_004525	NP_004516			0,1	LRP2_HUMAN	LRP2	HGNC	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN		42	7942	-			UPI0000141BA5	2577			LDL-receptor class B 28.|Extracellular (Potential).		SNV	LRP2,missense_variant,p.Arg2577Cys,ENST00000263816,NM_004525.2;	uc002ues.2	c.7729C>T	8015/15808	2	2			c.7729C>T						2	SNP	c.(7729-7731)CGC>TGC	26	26			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29	Broad	low density lipoprotein-related protein 2		Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	170060768		0.433	ENSG00000081479	8788	g.chr2:170060768G>A	hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			2055			2055	368.606656	KEEP	66	90	-1	121	136	66	90	-1	373.473954	121	136	0.374286	1	0	0	0	0	1	0	0	0	--	--		0	A				8	GBM-02-2486-TP	p.R2577C	G	AGAGTGCTGCGTTCAATCCTC	NM_004525	NP_004516	170060768	P98164	LRP2_HUMAN	0		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	42	7942	-	A	A			Missense_Mutation	2577			LDL-receptor class B 28.|Extracellular (Potential).			
LRP2	4036	broad.mit.edu	GRCh37	2	170007505	170007505	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0188-01	TCGA-06-0188-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263816.3:c.12493C>T	p.Arg4165Cys	p.R4165C	ENST00000263816	NM_004525.2	4165	Cgc/Tgc	0		A:0.0008	1	A:0		A	R/C	uc002ues.2	protein_coding	YES	CCDS2232.1			12493/13968									ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29	c.(12493-12495)CGC>TGC			PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,Gene3D:2.120.10.30,Pfam_domain:PF00058,SMART_domains:SM00135,Superfamily_domains:SSF63825	low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	A:0		ENSP00000263816	A:0	68/79	4.94E-05	9.61E-05				3.00E-05		0.000182	rs570499038,COSM259186	68/79	.		ENST00000263816	Transcript	1	A:0.0002	hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	ENSG00000081479	g.chr2:170007505G>A	6694			MODERATE		2.35	medium	getma.org/?cm=msa&ty=f&p=LRP2_HUMAN&rb=4154&re=4194&var=R4165C	getma.org/pdb.php?prot=LRP2_HUMAN&from=4154&to=4194&var=R4165C	getma.org/?cm=var&var=hg19,2,170007505,G,A&fts=all	R4165C	--	--	1																																			0,1	1		probably_damaging(1)	p.R4165C	NM_004525	NP_004516	A:0		0,1	LRP2_HUMAN	LRP2	HGNC	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN		68	12706	-			UPI0000141BA5	4165			Extracellular (Potential).|LDL-receptor class B 35.		SNV	LRP2,missense_variant,p.Arg4165Cys,ENST00000263816,NM_004525.2;	uc002ues.2	c.12493C>T	12779/15808	2	2			c.12493C>T						2	SNP	c.(12493-12495)CGC>TGC	21	21			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29	Broad	low density lipoprotein-related protein 2		Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	170007505		0.428	ENSG00000081479	8788	g.chr2:170007505G>A	hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			2055			2055	204.61893	KEEP	36	46	-1	72	76	36	46	-1	207.767686	72	76	0.364103	1	0	0	0	0	1	0	0	0	--	--		0	A				41	GBM-06-0188-TP	p.R4165C	G	ACCTCAATGCGTTTATTCTTG	NM_004525	NP_004516	170007505	P98164	LRP2_HUMAN	0		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	68	12706	-	A	A			Missense_Mutation	4165			Extracellular (Potential).|LDL-receptor class B 35.			
LRP2	4036	broad.mit.edu	GRCh37	2	170113633	170113633	+	splice_donor_variant	Splice_Site	SNP	C	C	T			TCGA-06-0190-01	TCGA-06-0190-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263816.3:c.2639+1G>A		p.X880_splice	ENST00000263816	NM_004525.2	880		0			1			T		uc002ues.2	protein_coding	YES	CCDS2232.1			2639/13968									ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29	c.e18+1				low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)			ENSP00000263816											rs746752313,COSM3315082		.		ENST00000263816	Transcript	1		hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	ENSG00000081479	g.chr2:170113633C>T	6694			HIGH	18/78							--	--	1																																		LRP2_uc010zdf.1_Splice_Site_p.A743_splice	0,1	1			p.A880_splice	NM_004525	NP_004516			0,1	LRP2_HUMAN	LRP2	HGNC	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN		18	2852	-			UPI0000141BA5						SNV	LRP2,splice_donor_variant,,ENST00000263816,NM_004525.2;LRP2,splice_donor_variant,,ENST00000443831,;	uc002ues.2	c.2639_splice	-/15808	5	2			c.2639_splice						2	SNP	c.e18+1	37	37			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29	Broad	low density lipoprotein-related protein 2		Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	170113633		0.458	ENSG00000081479	8788	g.chr2:170113633C>T	hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			2055			2055	94.396109	KEEP	22	15	-1	37	31	22	15	-1	96.157511	37	31	0.357143	1	0	0	0	0	0	0	0	1	--	--		0	T			LRP2_uc010zdf.1_Splice_Site_p.A743_splice	43	GBM-06-0190-TP	p.A880_splice	C	TTCCTACTTACGCCCAATCGA	NM_004525	NP_004516	170113633	P98164	LRP2_HUMAN	0		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	18	2852	-	T	T			Splice_Site							
LRP2	4036	broad.mit.edu	GRCh37	2	170058265	170058265	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0211-01	TCGA-06-0211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263816.3:c.8325C>T	p.Cys2775=	p.C2775=	ENST00000263816	NM_004525.2	2775	tgC/tgT	0			1			A	C	uc002ues.2	protein_coding	YES	CCDS2232.1			8325/13968									ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29	c.(8323-8325)TGC>TGT			PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,PROSITE_patterns:PS01209,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,SMART_domains:SM00181,Superfamily_domains:SSF57424	low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)			ENSP00000263816		44/79									COSM3407039	44/79	.		ENST00000263816	Transcript	1		hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	ENSG00000081479	g.chr2:170058265G>A	6694			LOW								--	--	1																																			1	1			p.C2775C	NM_004525	NP_004516			1	LRP2_HUMAN	LRP2	HGNC	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN		44	8538	-			UPI0000141BA5	2775			Extracellular (Potential).|LDL-receptor class A 17.		SNV	LRP2,synonymous_variant,p.=,ENST00000263816,NM_004525.2;	uc002ues.2	c.8325C>T	8611/15808	1	1			c.8325C>T						2	SNP	c.(8323-8325)TGC>TGT	52	52			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29	Broad	low density lipoprotein-related protein 2		Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	170058265		0.498	ENSG00000081479	8788	g.chr2:170058265G>A	hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			2055			2055	-25.291493	KEEP	2	2	-1	66	79	2	2	-1	6.356914	66	79	0.030534	1	0	0	0	0	0	0	1	0	--	--		0	A				48	GBM-06-0211-TP	p.C2775C	G	CCCTGAACAGGCACCCTGCCT	NM_004525	NP_004516	170058265	P98164	LRP2_HUMAN	0		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	44	8538	-	A	A			Silent	2775			Extracellular (Potential).|LDL-receptor class A 17.			
LRP2	4036	broad.mit.edu	GRCh37	2	170009381	170009381	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-2559-01	TCGA-06-2559-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263816.3:c.12389T>C	p.Leu4130Pro	p.L4130P	ENST00000263816	NM_004525.2	4130	cTt/cCt	0			1			G	L/P	uc002ues.2	protein_coding	YES	CCDS2232.1			12389/13968									ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29	c.(12388-12390)CTT>CCT			hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,Gene3D:2.120.10.30,Superfamily_domains:SSF63825	low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)			ENSP00000263816		67/79									COSM2152675	67/79	.		ENST00000263816	Transcript	1		hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	ENSG00000081479	g.chr2:170009381A>G	6694			MODERATE		-0.955	neutral	getma.org/?cm=msa&ty=f&p=LRP2_HUMAN&rb=4048&re=4153&var=L4130P	getma.org/pdb.php?prot=LRP2_HUMAN&from=4048&to=4153&var=L4130P	getma.org/?cm=var&var=hg19,2,170009381,A,G&fts=all	L4130P	--	--	1																																			1	1		benign(0)	p.L4130P	NM_004525	NP_004516			1	LRP2_HUMAN	LRP2	HGNC	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN		67	12602	-			UPI0000141BA5	4130			Extracellular (Potential).		SNV	LRP2,missense_variant,p.Leu4130Pro,ENST00000263816,NM_004525.2;	uc002ues.2	c.12389T>C	12675/15808	3	3			c.12389T>C						2	SNP	c.(12388-12390)CTT>CCT	52	52			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29	Broad	low density lipoprotein-related protein 2		Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	170009381		0.478	ENSG00000081479	8788	g.chr2:170009381A>G	hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding		p.L4130P(LNCAPCLONEFGC-Tumor)	2055		p.L4130P(LNCAPCLONEFGC-Tumor)	2055	657.73934	KEEP	101	103	-1	98	124	101	103	-1	657.965044	98	124	0.473958	1	0	0	0	0	1	0	0	0	--	--		0	G				83	GBM-06-2559-TP	p.L4130P	A	TTCCTGCACAAGATTATTGCG	NM_004525	NP_004516	170009381	P98164	LRP2_HUMAN	0		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	67	12602	-	G	G			Missense_Mutation	4130			Extracellular (Potential).			
LRP2	4036	broad.mit.edu	GRCh37	2	170101420	170101420	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2559-01	TCGA-06-2559-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263816.3:c.3213G>A	p.Ala1071=	p.A1071=	ENST00000263816	NM_004525.2	1071	gcG/gcA	0		T:0	1	T:0		T	A	uc002ues.2	protein_coding	YES	CCDS2232.1			3213/13968									ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29	c.(3211-3213)GCG>GCA			PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,SMART_domains:SM00181,Superfamily_domains:SSF57424	low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	T:0		ENSP00000263816	T:0	22/79	4.94E-05							0.000363	rs530329919,COSM3407042	22/79	.		ENST00000263816	Transcript	1	T:0.0004	hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	ENSG00000081479	g.chr2:170101420C>T	6694			LOW								--	--	1																																		LRP2_uc010zdf.1_Silent_p.A934A	0,1	1			p.A1071A	NM_004525	NP_004516	T:0.002		0,1	LRP2_HUMAN	LRP2	HGNC	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN		22	3426	-			UPI0000141BA5	1071			LDL-receptor class A 9.|Extracellular (Potential).		SNV	LRP2,synonymous_variant,p.=,ENST00000263816,NM_004525.2;LRP2,synonymous_variant,p.=,ENST00000443831,;	uc002ues.2	c.3213G>A	3499/15808	1	1			c.3213G>A						2	SNP	c.(3211-3213)GCG>GCA	16	16			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29	Broad	low density lipoprotein-related protein 2		Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	170101420		0.473	ENSG00000081479	8788	g.chr2:170101420C>T	hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			2055			2055	12.203277	KEEP	12	9	-1	96	100	12	9	-1	44.598322	96	100	0.09596	1	0	0	0	0	0	0	1	0	--	--		0	T			LRP2_uc010zdf.1_Silent_p.A934A	83	GBM-06-2559-TP	p.A1071A	C	CACAGGTGAACGCCGAAGATG	NM_004525	NP_004516	170101420	P98164	LRP2_HUMAN	0		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	22	3426	-	T	T			Silent	1071			LDL-receptor class A 9.|Extracellular (Potential).			
LRP2	4036	broad.mit.edu	GRCh37	2	170090092	170090092	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs140789320	by1000genomes	TCGA-06-2563-01	TCGA-06-2563-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263816.3:c.4927C>T	p.Arg1643Trp	p.R1643W	ENST00000263816	NM_004525.2	1643	Cgg/Tgg	0	A:0	A:0.0008	1	A:0		A	R/W	uc002ues.2	protein_coding	YES	CCDS2232.1			4927/13968									ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29	c.(4927-4929)CGG>TGG			PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825	low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	A:0	A:0.0002	ENSP00000263816	A:0	30/79	4.12E-05	9.65E-05				6.02E-05			rs140789320,COSM2152889	30/79	.		ENST00000263816	Transcript	1	A:0.0002	hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	ENSG00000081479	g.chr2:170090092G>A	6694			MODERATE		2.435	medium	getma.org/?cm=msa&ty=f&p=LRP2_HUMAN&rb=1608&re=1807&var=R1643W	getma.org/pdb.php?prot=LRP2_HUMAN&from=1608&to=1807&var=R1643W	getma.org/?cm=var&var=hg19,2,170090092,G,A&fts=all	R1643W	--	--	1																																			0,1	1		possibly_damaging(0.836)	p.R1643W	NM_004525	NP_004516	A:0		0,1	LRP2_HUMAN	LRP2	HGNC	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN		30	5140	-			UPI0000141BA5	1643			LDL-receptor class B 13.|Extracellular (Potential).		SNV	LRP2,missense_variant,p.Arg1643Trp,ENST00000263816,NM_004525.2;	uc002ues.2	c.4927C>T	5213/15808	1	1			c.4927C>T						2	SNP	c.(4927-4929)CGG>TGG	58	58			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29	Broad	low density lipoprotein-related protein 2		Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	170090092		0.498	ENSG00000081479	8788	g.chr2:170090092G>A	hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			2055			2055	77.301296	KEEP	13	18	-1	31	29	13	18	-1	79.169203	31	29	0.3375	1	0	0	0	0	1	0	0	0	--	--		0	A				86	GBM-06-2563-TP	p.R1643W	G	TAGGGGTGCCGTATAATCTGT	NM_004525	NP_004516	170090092	P98164	LRP2_HUMAN	0		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	30	5140	-	A	A			Missense_Mutation	1643			LDL-receptor class B 13.|Extracellular (Potential).			
LRP2	0	broad.mit.edu	GRCh37	2	170112639	170112639	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263816.3:c.2747C>T	p.Pro916Leu	p.P916L	ENST00000263816	NM_004525.2	916	cCg/cTg	0	A:0		1			A	P/L	uc002ues.2	protein_coding	YES	CCDS2232.1			2747/13968									ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29	c.(2746-2748)CCG>CTG			PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825	low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)		A:0.0001	ENSP00000263816		19/79	7.41E-05					0.000105		0.000121	rs375755424,COSM3407043	19/79	.		ENST00000263816	Transcript	1		hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	ENSG00000081479	g.chr2:170112639G>A	6694			MODERATE		2.885	medium	getma.org/?cm=msa&ty=f&p=LRP2_HUMAN&rb=880&re=1023&var=P916L	getma.org/pdb.php?prot=LRP2_HUMAN&from=880&to=1023&var=P916L	getma.org/?cm=var&var=hg19,2,170112639,G,A&fts=all	P916L	--	--	1																																		LRP2_uc010zdf.1_Missense_Mutation_p.P779L	0,1	1		probably_damaging(1)	p.P916L	NM_004525	NP_004516			0,1	LRP2_HUMAN	LRP2	HGNC	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN		19	2960	-			UPI0000141BA5	916			LDL-receptor class B 9.|Extracellular (Potential).		SNV	LRP2,missense_variant,p.Pro916Leu,ENST00000263816,NM_004525.2;LRP2,missense_variant,p.Pro779Leu,ENST00000443831,;	uc002ues.2	c.2747C>T	3033/15808	1	1			c.2747C>T						2	SNP	c.(2746-2748)CCG>CTG	54	54			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29	Broad	low density lipoprotein-related protein 2		Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	170112639		0.378	ENSG00000081479	8788	g.chr2:170112639G>A	hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			2055			2055	89.535997	KEEP	11	22	-1	22	29	11	22	-1	90.536249	22	29	0.379747	1	0	0	0	0	1	0	0	0	--	--		0	A			LRP2_uc010zdf.1_Missense_Mutation_p.P779L	177	GBM-19-5959-TP	p.P916L	G	AAGTCCAAACGGATGTGTCAT	NM_004525	NP_004516	170112639	P98164	LRP2_HUMAN	0		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	19	2960	-	A	A			Missense_Mutation	916			LDL-receptor class B 9.|Extracellular (Potential).			
LRP2	0	broad.mit.edu	GRCh37	2	170092415	170092415	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01	TCGA-27-1830-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263816.3:c.4855C>T	p.Leu1619Phe	p.L1619F	ENST00000263816	NM_004525.2	1619	Ctt/Ttt	0			1			A	L/F	uc002ues.2	protein_coding	YES	CCDS2232.1			4855/13968									ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29	c.(4855-4857)CTT>TTT			PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825	low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)			ENSP00000263816		29/79									COSM3407041	29/79	.		ENST00000263816	Transcript	1		hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	ENSG00000081479	g.chr2:170092415G>A	6694			MODERATE		2.95	medium	getma.org/?cm=msa&ty=f&p=LRP2_HUMAN&rb=1608&re=1807&var=L1619F	getma.org/pdb.php?prot=LRP2_HUMAN&from=1608&to=1807&var=L1619F	getma.org/?cm=var&var=hg19,2,170092415,G,A&fts=all	L1619F	--	--	1																																			1	1		benign(0.32)	p.L1619F	NM_004525	NP_004516			1	LRP2_HUMAN	LRP2	HGNC	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN		29	5068	-			UPI0000141BA5	1619			LDL-receptor class B 13.|Extracellular (Potential).		SNV	LRP2,missense_variant,p.Leu1619Phe,ENST00000263816,NM_004525.2;LRP2,downstream_gene_variant,,ENST00000443831,;	uc002ues.2	c.4855C>T	5141/15808	1	1			c.4855C>T						2	SNP	c.(4855-4857)CTT>TTT	54	54			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29	Broad	low density lipoprotein-related protein 2		Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	170092415		0.453	ENSG00000081479	8788	g.chr2:170092415G>A	hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			2055			2055	-13.383676	KEEP	3	1	-1	53	46	3	1	-1	7.451927	53	46	0.043011	1	0	0	0	0	1	0	0	0	--	--		0	A				189	GBM-27-1830-TP	p.L1619F	G	ATGTAATCAAGATAGGAGTCC	NM_004525	NP_004516	170092415	P98164	LRP2_HUMAN	0		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	29	5068	-	A	A			Missense_Mutation	1619			LDL-receptor class B 13.|Extracellular (Potential).			
LRP2	0	broad.mit.edu	GRCh37	2	170044684	170044684	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263816.3:c.9124G>A	p.Gly3042Arg	p.G3042R	ENST00000263816	NM_004525.2	3042	Ggg/Agg	0	T:0		1			T	G/R	uc002ues.2	protein_coding	YES	CCDS2232.1			9124/13968									ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29	c.(9124-9126)GGG>AGG			PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,Pfam_domain:PF00057,Gene3D:4.10.400.10,SMART_domains:SM00192,SMART_domains:SM00181,Superfamily_domains:SSF57424	low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)		T:0.0001	ENSP00000263816		49/79	4.12E-05	0.000192				3.00E-05		6.06E-05	rs376039022,COSM3314922	49/79	.		ENST00000263816	Transcript	1		hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	ENSG00000081479	g.chr2:170044684C>T	6694			MODERATE		2.76	medium	getma.org/?cm=msa&ty=f&p=LRP2_HUMAN&rb=3030&re=3068&var=G3042R	getma.org/pdb.php?prot=LRP2_HUMAN&from=3030&to=3068&var=G3042R	getma.org/?cm=var&var=hg19,2,170044684,C,T&fts=all	G3042R	--	--	1																																			0,1	1		probably_damaging(0.997)	p.G3042R	NM_004525	NP_004516			0,1	LRP2_HUMAN	LRP2	HGNC	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN		49	9337	-			UPI0000141BA5	3042			LDL-receptor class A 24.|Extracellular (Potential).		SNV	LRP2,missense_variant,p.Gly3042Arg,ENST00000263816,NM_004525.2;	uc002ues.2	c.9124G>A	9410/15808	2	2			c.9124G>A						2	SNP	c.(9124-9126)GGG>AGG	27	27			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29	Broad	low density lipoprotein-related protein 2		Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	170044684		0.512	ENSG00000081479	8788	g.chr2:170044684C>T	hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding		p.G3042R(IGROV1-Tumor)	2055		p.G3042R(IGROV1-Tumor)	2055	145.271046	KEEP	24	28	-1	73	78	24	28	-1	154.946476	73	78	0.264249	1	0	0	0	0	1	0	0	0	--	--		0	T				207	GBM-28-1753-TP	p.G3042R	C	ATGCAGCGCCCGTTCTGACAG	NM_004525	NP_004516	170044684	P98164	LRP2_HUMAN	0		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	49	9337	-	T	T			Missense_Mutation	3042			LDL-receptor class A 24.|Extracellular (Potential).			
LRP2	0	broad.mit.edu	GRCh37	2	170050292	170050292	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-6450-01	TCGA-28-6450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263816.3:c.8809G>A	p.Glu2937Lys	p.E2937K	ENST00000263816	NM_004525.2	2937	Gag/Aag	0			1			T	E/K	uc002ues.2	protein_coding	YES	CCDS2232.1			8809/13968									ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29	c.(8809-8811)GAG>AAG			PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,PROSITE_patterns:PS01209,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424	low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)			ENSP00000263816		47/79	1.65E-05					3.00E-05			rs746934443,COSM3407038	47/79	.		ENST00000263816	Transcript	1		hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	ENSG00000081479	g.chr2:170050292C>T	6694			MODERATE		4.36	high	getma.org/?cm=msa&ty=f&p=LRP2_HUMAN&rb=2904&re=2943&var=E2937K	getma.org/pdb.php?prot=LRP2_HUMAN&from=2904&to=2943&var=E2937K	getma.org/?cm=var&var=hg19,2,170050292,C,T&fts=all	E2937K	--	--	1																																			0,1	1		probably_damaging(0.986)	p.E2937K	NM_004525	NP_004516			0,1	LRP2_HUMAN	LRP2	HGNC	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN		47	9022	-			UPI0000141BA5	2937			LDL-receptor class A 21.|Extracellular (Potential).		SNV	LRP2,missense_variant,p.Glu2937Lys,ENST00000263816,NM_004525.2;	uc002ues.2	c.8809G>A	9095/15808	2	2			c.8809G>A						2	SNP	c.(8809-8811)GAG>AAG	30	30			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29	Broad	low density lipoprotein-related protein 2		Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	170050292		0.473	ENSG00000081479	8788	g.chr2:170050292C>T	hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			2055			2055	116.900093	KEEP	20	25	-1	31	45	20	25	-1	118.948294	31	45	0.354545	1	0	0	0	0	1	0	0	0	--	--		0	T				227	GBM-28-6450-TP	p.E2937K	C	CTTTTATCCTCGTCACTCATA	NM_004525	NP_004516	170050292	P98164	LRP2_HUMAN	0		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	47	9022	-	T	T			Missense_Mutation	2937			LDL-receptor class A 21.|Extracellular (Potential).			
LRP2	0	broad.mit.edu	GRCh37	2	170115593	170115593	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01	TCGA-32-1977-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263816.3:c.2455C>T	p.Arg819Cys	p.R819C	ENST00000263816	NM_004525.2	819	Cgc/Tgc	0			1			A	R/C	uc002ues.2	protein_coding	YES	CCDS2232.1			2455/13968									ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29	c.(2455-2457)CGC>TGC			PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825	low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)			ENSP00000263816		17/79	3.29E-05	9.61E-05				1.50E-05		0.000121	rs749942746,COSM207953	17/79	.		ENST00000263816	Transcript	1		hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	ENSG00000081479	g.chr2:170115593G>A	6694			MODERATE		2.6	medium	getma.org/?cm=msa&ty=f&p=LRP2_HUMAN&rb=767&re=837&var=R819C	getma.org/pdb.php?prot=LRP2_HUMAN&from=767&to=837&var=R819C	getma.org/?cm=var&var=hg19,2,170115593,G,A&fts=all	R819C	--	--	1																																		LRP2_uc010zdf.1_Missense_Mutation_p.R682C	0,1	1		probably_damaging(0.991)	p.R819C	NM_004525	NP_004516			0,1	LRP2_HUMAN	LRP2	HGNC	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN		17	2668	-			UPI0000141BA5	819			LDL-receptor class B 7.|Extracellular (Potential).		SNV	LRP2,missense_variant,p.Arg819Cys,ENST00000263816,NM_004525.2;LRP2,missense_variant,p.Arg682Cys,ENST00000443831,;	uc002ues.2	c.2455C>T	2741/15808	1	1			c.2455C>T						2	SNP	c.(2455-2457)CGC>TGC	64	64			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29	Broad	low density lipoprotein-related protein 2		Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	170115593		0.398	ENSG00000081479	8788	g.chr2:170115593G>A	hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			2055			2055	-27.807156	KEEP	11	11	-1	169	205	11	11	-1	41.416103	169	205	0.061047	1	0	0	0	0	1	0	0	0	--	--		0	A			LRP2_uc010zdf.1_Missense_Mutation_p.R682C	229	GBM-32-1977-TP	p.R819C	G	ACTACTGTGCGTCTCGTTTTA	NM_004525	NP_004516	170115593	P98164	LRP2_HUMAN	0		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	17	2668	-	A	A			Missense_Mutation	819			LDL-receptor class B 7.|Extracellular (Potential).			
LRP2	0	broad.mit.edu	GRCh37	2	170026272	170026272	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-4208-01	TCGA-32-4208-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263816.3:c.11437A>G	p.Ser3813Gly	p.S3813G	ENST00000263816	NM_004525.2	3813	Agt/Ggt	0			1			C	S/G	uc002ues.2	protein_coding	YES	CCDS2232.1			11437/13968									ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29	c.(11437-11439)AGT>GGT			PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,PROSITE_patterns:PS01209,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424	low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)			ENSP00000263816		60/79	1.65E-05		0.000173						rs775379871,COSM3407037	60/79	.		ENST00000263816	Transcript	1		hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	ENSG00000081479	g.chr2:170026272T>C	6694			MODERATE		0.31	neutral	getma.org/?cm=msa&ty=f&p=LRP2_HUMAN&rb=3796&re=3832&var=S3813G	getma.org/pdb.php?prot=LRP2_HUMAN&from=3796&to=3832&var=S3813G	getma.org/?cm=var&var=hg19,2,170026272,T,C&fts=all	S3813G	--	--	1																																			0,1	1		benign(0.158)	p.S3813G	NM_004525	NP_004516			0,1	LRP2_HUMAN	LRP2	HGNC	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN		60	11650	-			UPI0000141BA5	3813			Extracellular (Potential).|LDL-receptor class A 33.		SNV	LRP2,missense_variant,p.Ser3813Gly,ENST00000263816,NM_004525.2;	uc002ues.2	c.11437A>G	11723/15808	3	3			c.11437A>G						2	SNP	c.(11437-11439)AGT>GGT	64	64			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29	Broad	low density lipoprotein-related protein 2		Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	170026272		0.438	ENSG00000081479	8788	g.chr2:170026272T>C	hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			2055			2055	-23.166468	KEEP	2	2	-1	56	69	2	2	-1	6.553905	56	69	0.02521	1	0	0	0	0	1	0	0	0	--	--		0	C				243	GBM-32-4208-TP	p.S3813G	T	TTCAGTTCACTGTGTACACAA	NM_004525	NP_004516	170026272	P98164	LRP2_HUMAN	0		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	60	11650	-	C	C			Missense_Mutation	3813			Extracellular (Potential).|LDL-receptor class A 33.			
LRP2	0	broad.mit.edu	GRCh37	2	170003375	170003375	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6191-01	TCGA-76-6191-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263816.3:c.12685G>T	p.Gly4229Cys	p.G4229C	ENST00000263816	NM_004525.2	4229	Ggt/Tgt	0			1			A	G/C	uc002ues.2	protein_coding	YES	CCDS2232.1			12685/13968									ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29	c.(12685-12687)GGT>TGT			PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,Gene3D:2.120.10.30,Pfam_domain:PF00058,SMART_domains:SM00135,Superfamily_domains:SSF63825	low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)			ENSP00000263816		69/79										69/79	.		ENST00000263816	Transcript	1		hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	ENSG00000081479	g.chr2:170003375C>A	6694			MODERATE		3.61	high	getma.org/?cm=msa&ty=f&p=LRP2_HUMAN&rb=4197&re=4238&var=G4229C	getma.org/pdb.php?prot=LRP2_HUMAN&from=4197&to=4238&var=G4229C	getma.org/?cm=var&var=hg19,2,170003375,C,A&fts=all	G4229C	--	--	1																																				1		probably_damaging(1)	p.G4229C	NM_004525	NP_004516				LRP2_HUMAN	LRP2	HGNC	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN		69	12898	-			UPI0000141BA5	4229			LDL-receptor class B 36.|Extracellular (Potential).		SNV	LRP2,missense_variant,p.Gly4229Cys,ENST00000263816,NM_004525.2;	uc002ues.2	c.12685G>T	12971/15808	1	1			c.12685G>T						2	SNP	c.(12685-12687)GGT>TGT	57	57			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29	Broad	low density lipoprotein-related protein 2		Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	170003375		0.448	ENSG00000081479	8788	g.chr2:170003375C>A	hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			2055			2055	87.761273	KEEP	14	15	0.517241379	21	18	14	15	0.517241379	88.025228	21	18	0.432836	1	0	0	0	0	1	0	0	0	--	--		0	A				274	GBM-76-6191-TP	p.G4229C	C	GTTGGCCAACCAAGGTCCTCG	NM_004525	NP_004516	170003375	P98164	LRP2_HUMAN	0		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	69	12898	-	A	A			Missense_Mutation	4229			LDL-receptor class B 36.|Extracellular (Potential).			
LRP2	0	broad.mit.edu	GRCh37	2	170145548	170145548	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-81-5910-01	TCGA-81-5910-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263816.3:c.1030C>T	p.Arg344Cys	p.R344C	ENST00000263816	NM_004525.2	344	Cgt/Tgt	0			1			A	R/C	uc002ues.2	protein_coding	YES	CCDS2232.1			1030/13968									ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29	c.(1030-1032)CGT>TGT			hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,Gene3D:2.10.25.10,SMART_domains:SM00181,Superfamily_domains:SSF57184	low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)			ENSP00000263816		Sep-79	2.47E-05					4.50E-05			rs780002886,COSM3407044	Sep-79	.		ENST00000263816	Transcript	1		hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	ENSG00000081479	g.chr2:170145548G>A	6694			MODERATE		2.775	medium	getma.org/?cm=msa&ty=f&p=LRP2_HUMAN&rb=309&re=347&var=R344C	NA	getma.org/?cm=var&var=hg19,2,170145548,G,A&fts=all	R344C	--	--	1																																		LRP2_uc010zdf.1_Missense_Mutation_p.R344C	0,1	1		possibly_damaging(0.88)	p.R344C	NM_004525	NP_004516			0,1	LRP2_HUMAN	LRP2	HGNC	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN		9	1243	-			UPI0000141BA5	344			EGF-like 1.|Extracellular (Potential).		SNV	LRP2,missense_variant,p.Arg344Cys,ENST00000263816,NM_004525.2;LRP2,missense_variant,p.Arg344Cys,ENST00000443831,;	uc002ues.2	c.1030C>T	1316/15808	2	2			c.1030C>T						2	SNP	c.(1030-1032)CGT>TGT	47	47			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29	Broad	low density lipoprotein-related protein 2		Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	170145548		0.522	ENSG00000081479	8788	g.chr2:170145548G>A	hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			2055			2055	130.724029	KEEP	19	27	-1	20	43	19	27	-1	131.097185	20	43	0.431579	1	0	0	0	0	1	0	0	0	--	--		0	A			LRP2_uc010zdf.1_Missense_Mutation_p.R344C	289	GBM-81-5910-TP	p.R344C	G	ACACAGGTACGGCTGTCATTG	NM_004525	NP_004516	170145548	P98164	LRP2_HUMAN	0		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	9	1243	-	A	A			Missense_Mutation	344			EGF-like 1.|Extracellular (Potential).			
LRP2	4036		GRCh37	2	169985569	169985569	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000263816.3:c.13754G>A	p.Arg4585Gln	p.R4585Q	ENST00000263816	NM_004525.2	4585	cGa/cAa	0																																																																																																																																																																																																																																												
LRP2BP	55805		GRCh37	4	186299262	186299262	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000328559.7:c.79T>G	p.Phe27Val	p.F27V	ENST00000328559	NM_018409.3	27	Ttt/Gtt	0																																																																																																																																																																																																																																												
LRP3	4037	broad.mit.edu	GRCh37	19	33696170	33696170	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-5413-01	TCGA-06-5413-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000253193.7:c.494C>G	p.Ser165Cys	p.S165C	ENST00000253193	NM_002333.3	165	tCc/tGc	0			1			G	S/C	uc010edh.2	protein_coding	YES	CCDS12430.1			494/2313									pancreas(2)|ovary(1)	3	c.(493-495)TCC>TGC			PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF211,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424	low density lipoprotein receptor-related protein				ENSP00000253193		7-May									COSM3404086,COSM3404087	7-May	.		ENST00000253193	Transcript			receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	ENSG00000130881	g.chr19:33696170C>G	6695			MODERATE		2.31	medium	getma.org/?cm=msa&ty=f&p=LRP3_HUMAN&rb=164&re=200&var=S165C	getma.org/pdb.php?prot=LRP3_HUMAN&from=164&to=200&var=S165C	getma.org/?cm=var&var=hg19,19,33696170,C,G&fts=all	S165C	--	--	1																																		LRP3_uc010xrp.1_Missense_Mutation_p.S39C|LRP3_uc002nuk.3_Missense_Mutation_p.S39C	1,1	1		possibly_damaging(0.866)	p.S165C	NM_002333	NP_002324		deleterious(0.05)	1,1	LRP3_HUMAN	LRP3	HGNC	O75074	LRP3_HUMAN					5	587	+	Esophageal squamous(110;0.137)		UPI0000047A9C	165			Extracellular (Potential).|LDL-receptor class A 1.		SNV	LRP3,missense_variant,p.Ser165Cys,ENST00000253193,NM_002333.3;LRP3,missense_variant,p.Ser83Cys,ENST00000592484,;SLC7A10,downstream_gene_variant,,ENST00000253188,NM_019849.2;CTD-2540B15.13,upstream_gene_variant,,ENST00000609744,;LRP3,non_coding_transcript_exon_variant,,ENST00000590278,;LRP3,non_coding_transcript_exon_variant,,ENST00000590275,;SLC7A10,downstream_gene_variant,,ENST00000590036,;SLC7A10,downstream_gene_variant,,ENST00000590490,;	uc010edh.2	c.494C>G	696/2728	4	4			c.494C>G						19	SNP	c.(493-495)TCC>TGC	30	30			pancreas(2)|ovary(1)	3	Broad	low density lipoprotein receptor-related protein			33696170		0.662	ENSG00000130881	8790	g.chr19:33696170C>G	receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity							24.592132	KEEP	1	7	-1	6	9	1	7	-1	24.854083	6	9	0.380952	1	0	0	0	0	1	0	0	0	--	--		0	G			LRP3_uc010xrp.1_Missense_Mutation_p.S39C|LRP3_uc002nuk.3_Missense_Mutation_p.S39C	96	GBM-06-5413-TP	p.S165C	C	GGCCAGGCATCCTGCCAGGCA	NM_002333	NP_002324	33696170	O75074	LRP3_HUMAN	0			5	587	+	G	G	Esophageal squamous(110;0.137)		Missense_Mutation	165			Extracellular (Potential).|LDL-receptor class A 1.			
LRP3	0	broad.mit.edu	GRCh37	19	33697915	33697915	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01	TCGA-14-4157-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000253193.7:c.1747C>T	p.Arg583Cys	p.R583C	ENST00000253193	NM_002333.3	583	Cgc/Tgc	0			1			T	R/C	uc010edh.2	protein_coding	YES	CCDS12430.1			1747/2313									pancreas(2)|ovary(1)	3	c.(1747-1749)CGC>TGC			hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF211	low density lipoprotein receptor-related protein				ENSP00000253193		7-Jul	1.76E-05					0.000117			rs748288353,COSM3404088,COSM3404089	7-Jul	.		ENST00000253193	Transcript			receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	ENSG00000130881	g.chr19:33697915C>T	6695			MODERATE		1.625	low	getma.org/?cm=msa&ty=f&p=LRP3_HUMAN&rb=490&re=689&var=R583C	NA	getma.org/?cm=var&var=hg19,19,33697915,C,T&fts=all	R583C	--	--	1																																		LRP3_uc002nuk.3_Missense_Mutation_p.R457C	0,1,1	1		possibly_damaging(0.893)	p.R583C	NM_002333	NP_002324		deleterious(0)	0,1,1	LRP3_HUMAN	LRP3	HGNC	O75074	LRP3_HUMAN					7	1840	+	Esophageal squamous(110;0.137)		UPI0000047A9C	583			Cytoplasmic (Potential).		SNV	LRP3,missense_variant,p.Arg583Cys,ENST00000253193,NM_002333.3;SLC7A10,downstream_gene_variant,,ENST00000253188,NM_019849.2;LRP3,downstream_gene_variant,,ENST00000592484,;CTD-2540B15.13,upstream_gene_variant,,ENST00000609744,;LRP3,non_coding_transcript_exon_variant,,ENST00000590278,;SLC7A10,downstream_gene_variant,,ENST00000590036,;SLC7A10,downstream_gene_variant,,ENST00000590490,;SLC7A10,downstream_gene_variant,,ENST00000592596,;LRP3,downstream_gene_variant,,ENST00000590275,;SLC7A10,downstream_gene_variant,,ENST00000587064,;	uc010edh.2	c.1747C>T	1949/2728	2	2			c.1747C>T						19	SNP	c.(1747-1749)CGC>TGC	20	20			pancreas(2)|ovary(1)	3	Broad	low density lipoprotein receptor-related protein			33697915		0.552	ENSG00000130881	8790	g.chr19:33697915C>T	receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity							21.224679	KEEP	5	5	-1	7	2	5	5	-1	21.239056	7	2	0.466667	1	0	0	0	0	1	0	0	0	--	--		0	T			LRP3_uc002nuk.3_Missense_Mutation_p.R457C	152	GBM-14-4157-TP	p.R583C	C	GCAGAATCTTCGCACAGCCAT	NM_002333	NP_002324	33697915	O75074	LRP3_HUMAN	0			7	1840	+	T	T	Esophageal squamous(110;0.137)		Missense_Mutation	583			Cytoplasmic (Potential).			
LRP4	4038	broad.mit.edu	GRCh37	11	46880714	46880714	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0192-01	TCGA-06-0192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378623.1:c.5538C>T	p.Asp1846=	p.D1846=	ENST00000378623	NM_002334.3	1846	gaC/gaT	0			1			A	D	uc001ndn.3	protein_coding	YES	CCDS31478.1			5538/5718									skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4	c.(5536-5538)GAC>GAT			hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF196	low density lipoprotein receptor-related protein				ENSP00000367888		38/38	8.24E-06					1.50E-05			rs769171471,COSM3397710	38/38	.		ENST00000378623	Transcript	1		endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	ENSG00000134569	g.chr11:46880714G>A	6696			LOW								--	--	1																																		uc001ndl.2_Intron|LRP4_uc001ndm.3_Silent_p.D88D	0,1	1			p.D1846D	NM_002334	NP_002325			0,1	LRP4_HUMAN	LRP4	HGNC	O75096	LRP4_HUMAN		Lung(87;0.159)			38	5684	-			UPI0000D625E9	1846			Cytoplasmic (Potential).		SNV	LRP4,synonymous_variant,p.=,ENST00000378623,NM_002334.3;LRP4-AS1,intron_variant,,ENST00000502049,;LRP4-AS1,intron_variant,,ENST00000531719,;LRP4,non_coding_transcript_exon_variant,,ENST00000529604,;	uc001ndn.3	c.5538C>T	5781/8076	2	2			c.5538C>T						11	SNP	c.(5536-5538)GAC>GAT	18	18			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4	Broad	low density lipoprotein receptor-related protein			46880714		0.582	ENSG00000134569	8791	g.chr11:46880714G>A	endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity							10.652862	KEEP	8	7	-1	79	53	8	7	-1	30.500745	79	53	0.107692	1	0	0	0	0	0	0	1	0	--	--		0	A			uc001ndl.2_Intron|LRP4_uc001ndm.3_Silent_p.D88D	44	GBM-06-0192-TP	p.D1846D	G	TGGACACCGTGTCTGTCTTCA	NM_002334	NP_002325	46880714	O75096	LRP4_HUMAN	0		Lung(87;0.159)	38	5684	-	A	A			Silent	1846			Cytoplasmic (Potential).			
LRP4	4038	broad.mit.edu	GRCh37	11	46880763	46880763	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs146864522		TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378623.1:c.5489G>A	p.Arg1830Gln	p.R1830Q	ENST00000378623	NM_002334.3	1830	cGa/cAa	0	T:0.0002		1			T	R/Q	uc001ndn.3	protein_coding	YES	CCDS31478.1			5489/5718						uncertain_significance			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4	c.(5488-5490)CGA>CAA			hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF196	low density lipoprotein receptor-related protein			T:0	ENSP00000367888		38/38	4.12E-05			0.000116	0.000302	3.00E-05			rs146864522,COSM3397711	38/38	.		ENST00000378623	Transcript	1		endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	ENSG00000134569	g.chr11:46880763C>T	6696			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=LRP4_HUMAN&rb=1716&re=1903&var=R1830Q	NA	getma.org/?cm=var&var=hg19,11,46880763,C,T&fts=all	R1830Q	--	--	1																																		uc001ndl.2_Intron|LRP4_uc001ndm.3_Missense_Mutation_p.R72Q	1,1	1		benign(0.062)	p.R1830Q	NM_002334	NP_002325		tolerated_low_confidence(0.08)	0,1	LRP4_HUMAN	LRP4	HGNC	O75096	LRP4_HUMAN		Lung(87;0.159)			38	5635	-			UPI0000D625E9	1830			Cytoplasmic (Potential).		SNV	LRP4,missense_variant,p.Arg1830Gln,ENST00000378623,NM_002334.3;LRP4-AS1,intron_variant,,ENST00000502049,;LRP4-AS1,intron_variant,,ENST00000531719,;LRP4,non_coding_transcript_exon_variant,,ENST00000529604,;	uc001ndn.3	c.5489G>A	5732/8076	2	2			c.5489G>A						11	SNP	c.(5488-5490)CGA>CAA	21	21			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4	Broad	low density lipoprotein receptor-related protein			46880763		0.572	ENSG00000134569	8791	g.chr11:46880763C>T	endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity							-15.010699	KEEP	1	5	-1	57	66	1	5	-1	10.379645	57	66	0.04386	1	0	0	0	0	1	0	0	0	--	--		0	T			uc001ndl.2_Intron|LRP4_uc001ndm.3_Missense_Mutation_p.R72Q	65	GBM-06-0743-TP	p.R1830Q	C	CCGTGAGCTTCGCAGTTGCTT	NM_002334	NP_002325	46880763	O75096	LRP4_HUMAN	0		Lung(87;0.159)	38	5635	-	T	T			Missense_Mutation	1830			Cytoplasmic (Potential).			
LRP4	0	broad.mit.edu	GRCh37	11	46900805	46900805	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-5209-01	TCGA-28-5209-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378623.1:c.2876A>G	p.Tyr959Cys	p.Y959C	ENST00000378623	NM_002334.3	959	tAt/tGt	0			1			C	Y/C	uc001ndn.3	protein_coding	YES	CCDS31478.1			2876/5718									skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4	c.(2875-2877)TAT>TGT			PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF196,Gene3D:2.120.10.30,Pfam_domain:PF00058,SMART_domains:SM00135,Superfamily_domains:SSF63825	low density lipoprotein receptor-related protein				ENSP00000367888		21/38									COSM3397713	21/38	.		ENST00000378623	Transcript	1		endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	ENSG00000134569	g.chr11:46900805T>C	6696			MODERATE		3.695	high	getma.org/?cm=msa&ty=f&p=LRP4_HUMAN&rb=956&re=996&var=Y959C	getma.org/pdb.php?prot=LRP4_HUMAN&from=956&to=996&var=Y959C	getma.org/?cm=var&var=hg19,11,46900805,T,C&fts=all	Y959C	--	--	1																																			1	1		probably_damaging(0.969)	p.Y959C	NM_002334	NP_002325		deleterious(0)	1	LRP4_HUMAN	LRP4	HGNC	O75096	LRP4_HUMAN		Lung(87;0.159)			21	3022	-			UPI0000D625E9	959			Extracellular (Potential).|LDL-receptor class B 10.		SNV	LRP4,missense_variant,p.Tyr959Cys,ENST00000378623,NM_002334.3;LRP4-AS1,downstream_gene_variant,,ENST00000502049,;LRP4,downstream_gene_variant,,ENST00000529921,;	uc001ndn.3	c.2876A>G	3119/8076	3	3			c.2876A>G						11	SNP	c.(2875-2877)TAT>TGT	7	7			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4	Broad	low density lipoprotein receptor-related protein			46900805		0.567	ENSG00000134569	8791	g.chr11:46900805T>C	endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity							396.871866	KEEP	51	64	-1	59	63	51	64	-1	396.880367	59	63	0.493023	1	0	0	0	0	1	0	0	0	--	--		0	C				218	GBM-28-5209-TP	p.Y959C	T	GTCAGTCCAATAGATGCGCTC	NM_002334	NP_002325	46900805	O75096	LRP4_HUMAN	0		Lung(87;0.159)	21	3022	-	C	C			Missense_Mutation	959			Extracellular (Potential).|LDL-receptor class B 10.			
LRP4	0	broad.mit.edu	GRCh37	11	46894746	46894746	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-4719-01	TCGA-32-4719-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378623.1:c.4488C>T	p.Ile1496=	p.I1496=	ENST00000378623	NM_002334.3	1496	atC/atT	0			1			A	I	uc001ndn.3	protein_coding	YES	CCDS31478.1			4488/5718									skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4	c.(4486-4488)ATC>ATT			PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF196,Gene3D:2.120.10.30,Pfam_domain:PF00058,SMART_domains:SM00135,Superfamily_domains:SSF63825	low density lipoprotein receptor-related protein				ENSP00000367888		30/38									COSM3397712	30/38	.		ENST00000378623	Transcript	1		endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	ENSG00000134569	g.chr11:46894746G>A	6696			LOW								--	--	1																																		uc001ndl.2_RNA	1	1			p.I1496I	NM_002334	NP_002325			1	LRP4_HUMAN	LRP4	HGNC	O75096	LRP4_HUMAN		Lung(87;0.159)			30	4634	-			UPI0000D625E9	1496			Extracellular (Potential).|LDL-receptor class B 18.		SNV	LRP4,synonymous_variant,p.=,ENST00000378623,NM_002334.3;LRP4-AS1,non_coding_transcript_exon_variant,,ENST00000502049,;LRP4-AS1,non_coding_transcript_exon_variant,,ENST00000531719,;LRP4,non_coding_transcript_exon_variant,,ENST00000527656,;	uc001ndn.3	c.4488C>T	4731/8076	2	2			c.4488C>T						11	SNP	c.(4486-4488)ATC>ATT	22	22			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4	Broad	low density lipoprotein receptor-related protein			46894746		0.552	ENSG00000134569	8791	g.chr11:46894746G>A	endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity							31.637823	KEEP	10	10	-1	43	46	10	10	-1	41.532611	43	46	0.168421	1	0	0	0	0	0	0	1	0	--	--		0	A			uc001ndl.2_RNA	248	GBM-32-4719-TP	p.I1496I	G	TTGCCCGTTCGATCTTGGCAA	NM_002334	NP_002325	46894746	O75096	LRP4_HUMAN	0		Lung(87;0.159)	30	4634	-	A	A			Silent	1496			Extracellular (Potential).|LDL-receptor class B 18.			
LRP5	4041		GRCh37	11	68191121	68191121	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000294304.7:c.3192G>A	p.Gly1064=	p.G1064=	ENST00000294304	NM_002335.2	1064	ggG/ggA	0																																																																																																																																																																																																																																												
LRP6	4040	broad.mit.edu	GRCh37	12	12274335	12274335	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01	TCGA-02-0047-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261349.4:c.4567C>T	p.Arg1523Trp	p.R1523W	ENST00000261349	NM_002336.2	1523	Cgg/Tgg	0			1			A	R/W	uc001rah.3	protein_coding	YES	CCDS8647.1			4567/4842									lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12	c.(4567-4569)CGG>TGG			Low_complexity_(Seg):seg,PIRSF_domain:PIRSF036314,hmmpanther:PTHR10529:SF109,hmmpanther:PTHR10529	low density lipoprotein receptor-related protein				ENSP00000261349		23/23	8.24E-06					1.50E-05			rs761430379,COSM3398461	23/23	.		ENST00000261349	Transcript	1		cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	ENSG00000070018	g.chr12:12274335G>A	6698			MODERATE		1.895	low	getma.org/?cm=msa&ty=f&p=LRP6_HUMAN&rb=1371&re=1611&var=R1523W	NA	getma.org/?cm=var&var=hg19,12,12274335,G,A&fts=all	R1523W	--	--	1																																		BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.R1478W	0,1	1		probably_damaging(0.995)	p.R1523W	NM_002336	NP_002327		deleterious(0.01)	0,1	LRP6_HUMAN	LRP6	HGNC	O75581	LRP6_HUMAN			F5H0Z3_HUMAN,B3KQA9_HUMAN		23	4709	-		Prostate(47;0.0865)	UPI00001FB66C	1523			Cytoplasmic (Potential).		SNV	LRP6,missense_variant,p.Arg1523Trp,ENST00000261349,NM_002336.2;LRP6,missense_variant,p.Arg1478Trp,ENST00000543091,;LRP6,3_prime_UTR_variant,,ENST00000540527,;BCL2L14,intron_variant,,ENST00000396369,;LRP6,downstream_gene_variant,,ENST00000540415,;LRP6,missense_variant,p.Arg1388Trp,ENST00000538239,;BCL2L14,intron_variant,,ENST00000298566,;	uc001rah.3	c.4567C>T	4644/10020	1	1			c.4567C>T						12	SNP	c.(4567-4569)CGG>TGG	64	64			lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12	Broad	low density lipoprotein receptor-related protein			12274335		0.458	ENSG00000070018	8794	g.chr12:12274335G>A	cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			618			618	-43.544265	KEEP	9	5	-1	155	162	9	5	-1	22.22009	155	162	0.038462	1	0	0	0	0	1	0	0	0	--	--		0	A			BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.R1478W	3	GBM-02-0047-TP	p.R1523W	G	GCAAAGTGCCGGTAGCTATAT	NM_002336	NP_002327	12274335	O75581	LRP6_HUMAN	0			23	4709	-	A	A		Prostate(47;0.0865)	Missense_Mutation	1523			Cytoplasmic (Potential).			
LRP6	4040	broad.mit.edu	GRCh37	12	12311913	12311913	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261349.4:c.2641G>A	p.Val881Ile	p.V881I	ENST00000261349	NM_002336.2	881	Gtc/Atc	0			1			T	V/I	uc001rah.3	protein_coding	YES	CCDS8647.1			2641/4842								p.V881L(1)	lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12	c.(2641-2643)GTC>ATC			Superfamily_domains:SSF63825,PIRSF_domain:PIRSF036314,Gene3D:2.120.10.30,hmmpanther:PTHR10529:SF109,hmmpanther:PTHR10529,PROSITE_profiles:PS51120	low density lipoprotein receptor-related protein				ENSP00000261349		23-Dec	8.24E-06					1.50E-05			rs767098954,COSM1561792	23-Dec	.		ENST00000261349	Transcript	1		cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	ENSG00000070018	g.chr12:12311913C>T	6698			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=LRP6_HUMAN&rb=843&re=883&var=V881I	getma.org/pdb.php?prot=LRP6_HUMAN&from=843&to=883&var=V881I	getma.org/?cm=var&var=hg19,12,12311913,C,T&fts=all	V881I	--	--	1																																		BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.V881I	0,1	1		possibly_damaging(0.704)	p.V881I	NM_002336	NP_002327		deleterious(0.04)	0,1	LRP6_HUMAN	LRP6	HGNC	O75581	LRP6_HUMAN			F5H0Z3_HUMAN,B3KQA9_HUMAN		12	2783	-		Prostate(47;0.0865)	UPI00001FB66C	881			Extracellular (Potential).|Beta-propeller 3.|LDL-receptor class B 15.		SNV	LRP6,missense_variant,p.Val881Ile,ENST00000261349,NM_002336.2;LRP6,missense_variant,p.Val881Ile,ENST00000543091,;LRP6,missense_variant,p.Val746Ile,ENST00000538239,;BCL2L14,intron_variant,,ENST00000298566,;RP11-267J23.1,downstream_gene_variant,,ENST00000472093,;	uc001rah.3	c.2641G>A	2718/10020	1	1			c.2641G>A						12	SNP	c.(2641-2643)GTC>ATC	1	1		p.V881L(1)	lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12	Broad	low density lipoprotein receptor-related protein			12311913		0.537	ENSG00000070018	8794	g.chr12:12311913C>T	cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			618			618	19.309897	KEEP	9	5	-1	46	38	9	5	-1	30.734406	46	38	0.141304	1	0	0	0	0	1	0	0	0	--	--		0	T			BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.V881I	46	GBM-06-0209-TP	p.V881I	C	GAGTGAAAGACGAGGATGTCC	NM_002336	NP_002327	12311913	O75581	LRP6_HUMAN	0			12	2783	-	T	T		Prostate(47;0.0865)	Missense_Mutation	881			Extracellular (Potential).|Beta-propeller 3.|LDL-receptor class B 15.			
LRP8	7804	broad.mit.edu	GRCh37	1	53732253	53732253	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0168-01	TCGA-06-0168-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306052.6:c.1319G>A	p.Arg440Gln	p.R440Q	ENST00000306052	NM_004631.4	440	cGg/cAg	0			1			T	R/Q	uc001cvi.1	protein_coding	YES	CCDS578.1			1319/2892										0	c.(1318-1320)CGG>CAG			Superfamily_domains:SSF63825,Gene3D:2.120.10.30,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF99	low density lipoprotein receptor-related protein				ENSP00000303634		19-Sep	8.24E-06							6.06E-05	rs759807451,COSM2150244	19-Sep	.		ENST00000306052	Transcript	1		cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	ENSG00000157193	g.chr1:53732253C>T	6700			MODERATE		0.995	low	getma.org/?cm=msa&ty=f&p=LRP8_HUMAN&rb=380&re=461&var=R440Q	getma.org/pdb.php?prot=LRP8_HUMAN&from=380&to=461&var=R440Q	getma.org/?cm=var&var=hg19,1,53732253,C,T&fts=all	R440Q	--	--	1																																		LRP8_uc001cvh.1_5'UTR|LRP8_uc001cvk.1_Missense_Mutation_p.R270Q|LRP8_uc001cvj.1_Missense_Mutation_p.R440Q|LRP8_uc001cvl.1_Missense_Mutation_p.R311Q|LRP8_uc001cvm.1_Missense_Mutation_p.R25Q	0,1	1		possibly_damaging(0.851)	p.R440Q	NM_004631	NP_004622		tolerated(0.07)	0,1	LRP8_HUMAN	LRP8	HGNC	Q14114	LRP8_HUMAN					9	1461	-			UPI00001AF338	440			Extracellular (Potential).		SNV	LRP8,missense_variant,p.Arg440Gln,ENST00000306052,NM_004631.4;LRP8,missense_variant,p.Arg440Gln,ENST00000371454,NM_001018054.2;LRP8,missense_variant,p.Arg311Gln,ENST00000354412,NM_017522.4;LRP8,missense_variant,p.Arg270Gln,ENST00000347547,NM_033300.3;LRP8,missense_variant,p.Arg129Gln,ENST00000475501,;LRP8,5_prime_UTR_variant,,ENST00000465675,;RP4-784A16.1,upstream_gene_variant,,ENST00000432653,;LRP8,upstream_gene_variant,,ENST00000460214,;LRP8,missense_variant,p.Arg4Gln,ENST00000481431,;LRP8,3_prime_UTR_variant,,ENST00000480045,;LRP8,non_coding_transcript_exon_variant,,ENST00000459674,;	uc001cvi.1	c.1319G>A	1421/4467	2	2			c.1319G>A						1	SNP	c.(1318-1320)CGG>CAG	17	17				0	Broad	low density lipoprotein receptor-related protein			53732253		0.537	ENSG00000157193	8795	g.chr1:53732253C>T	cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity							315.946186	KEEP	60	51	-1	90	56	60	51	-1	316.715375	90	56	0.436937	1	0	0	0	0	1	0	0	0	--	--		0	T			LRP8_uc001cvh.1_5'UTR|LRP8_uc001cvk.1_Missense_Mutation_p.R270Q|LRP8_uc001cvj.1_Missense_Mutation_p.R440Q|LRP8_uc001cvl.1_Missense_Mutation_p.R311Q|LRP8_uc001cvm.1_Missense_Mutation_p.R25Q	33	GBM-06-0168-TP	p.R440Q	C	TGAATAGTTCCGCTTCACCAG	NM_004631	NP_004622	53732253	Q14114	LRP8_HUMAN	0			9	1461	-	T	T			Missense_Mutation	440			Extracellular (Potential).			
LRPAP1	0	broad.mit.edu	GRCh37	4	3534104	3534104	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-06-6695-01	TCGA-06-6695-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000500728.2:c.36G>C	p.Gly12=	p.G12=	ENST00000500728	NM_002337.3	12	ggG/ggC	0			1			G	G	uc003ghi.2	protein_coding	YES	CCDS3371.1			36/1074									ovary(1)|skin(1)	2	c.(34-36)GGG>GGC			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR16560:SF2,hmmpanther:PTHR16560	low density lipoprotein receptor-related protein				ENSP00000421922		8-Jan									COSM3409262	8-Jan	.		ENST00000500728	Transcript	1		negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding	ENSG00000163956	g.chr4:3534104C>G	6701			LOW								--	--	1																																			1	1			p.G12G	NM_002337	NP_002328			1	AMRP_HUMAN	LRPAP1	HGNC	P30533	AMRP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.165)			1	121	-			UPI00000354C2	12					SNV	LRPAP1,synonymous_variant,p.=,ENST00000500728,NM_002337.3;LRPAP1,upstream_gene_variant,,ENST00000296325,;LRPAP1,synonymous_variant,p.=,ENST00000515119,;LRPAP1,non_coding_transcript_exon_variant,,ENST00000509198,;	uc003ghi.2	c.36G>C	183/7819	3	3			c.36G>C						4	SNP	c.(34-36)GGG>GGC	58	58			ovary(1)|skin(1)	2	Broad	low density lipoprotein receptor-related protein			3534104		0.706	ENSG00000163956	8796	g.chr4:3534104C>G	negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding							7.725417	KEEP	1	2	-1	4	5	1	2	-1	8.234347	4	5	0.272727	1	0	0	0	0	0	0	1	0	--	--		0	G				110	GBM-06-6695-TP	p.G12G	C	GCGCCGGGAGCCCGCGCAGAA	NM_002337	NP_002328	3534104	P30533	AMRP_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (64;0.165)	1	121	-	G	G			Silent	12						
LRPPRC	0	broad.mit.edu	GRCh37	2	44152273	44152273	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-19-5958-01	TCGA-19-5958-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260665.7:c.2829G>T	p.Val943=	p.V943=	ENST00000260665	NM_133259.3	943	gtG/gtT	0			1			A	V	uc002rtr.2	protein_coding	YES	CCDS33189.1			2829/4185									ovary(2)|skin(1)	3	c.(2827-2829)GTG>GTT			Gene3D:1.25.40.10,hmmpanther:PTHR24015,hmmpanther:PTHR24015:SF0	leucine-rich PPR motif-containing protein				ENSP00000260665		27/38									COSM2156848	27/38	.		ENST00000260665	Transcript	1		mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	ENSG00000138095	g.chr2:44152273C>A	15714			LOW								--	--	1																																		LRPPRC_uc010yob.1_Silent_p.V843V	1	1			p.V943V	NM_133259	NP_573566			1	LPPRC_HUMAN	LRPPRC	HGNC	P42704	LPPRC_HUMAN			E5KNY5_HUMAN		27	2887	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	UPI000019B4D2	943					SNV	LRPPRC,synonymous_variant,p.=,ENST00000260665,NM_133259.3;	uc002rtr.2	c.2829G>T	2887/6335	1	1			c.2829G>T						2	SNP	c.(2827-2829)GTG>GTT	54	54			ovary(2)|skin(1)	3	Broad	leucine-rich PPR motif-containing protein			44152273		0.323	ENSG00000138095	8797	g.chr2:44152273C>A	mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding							165.485253	KEEP	25	37	0.596774194	54	52	25	37	0.596774194	167.53088	54	52	0.37415	1	0	0	0	0	0	0	1	0	--	--		0	A			LRPPRC_uc010yob.1_Silent_p.V843V	176	GBM-19-5958-TP	p.V943V	C	GTGTCAGCTCCACTAATTTTT	NM_133259	NP_573566	44152273	P42704	LPPRC_HUMAN	0			27	2887	-	A	A		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Silent	943						
LRPPRC	10128		GRCh37	2	44203309	44203309	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2510-01	TCGA-28-2510-01																				ENST00000260665.7:c.710C>T	p.Ala237Val	p.A237V	ENST00000260665	NM_133259.3	237	gCc/gTc	0																																																																																																																																																																																																																																												
LRRC1	0	broad.mit.edu	GRCh37	6	53784332	53784332	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-19-2624-01	TCGA-19-2624-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370888.1:c.1143G>C	p.Lys381Asn	p.K381N	ENST00000370888	NM_018214.4	381	aaG/aaC	0			1			C	K/N	uc003pcd.1	protein_coding	YES	CCDS4953.2			1143/1575									ovary(1)	1	c.(1141-1143)AAG>AAC			PROSITE_profiles:PS51450,hmmpanther:PTHR23155:SF412,hmmpanther:PTHR23155,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	leucine rich repeat containing 1				ENSP00000359925		14-Dec									COSM3411201	14-Dec	.		ENST00000370888	Transcript				cytoplasm|membrane		ENSG00000137269	g.chr6:53784332G>C	14307			MODERATE		0.33	neutral	getma.org/?cm=msa&ty=f&p=LRRC1_HUMAN&rb=325&re=524&var=K381N	NA	getma.org/?cm=var&var=hg19,6,53784332,G,C&fts=all	K381N	--	--	1																																			1	1		benign(0.075)	p.K381N	NM_018214	NP_060684		tolerated(1)	1	LRRC1_HUMAN	LRRC1	HGNC	Q9BTT6	LRRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0745)			12	1420	+	Lung NSC(77;0.0147)		UPI0000072801	381					SNV	LRRC1,missense_variant,p.Lys381Asn,ENST00000370888,NM_018214.4;RP3-523E19.2,intron_variant,,ENST00000474641,;LRRC1,non_coding_transcript_exon_variant,,ENST00000490222,;	uc003pcd.1	c.1143G>C	1420/3180	3	3			c.1143G>C						6	SNP	c.(1141-1143)AAG>AAC	60	60			ovary(1)	1	Broad	leucine rich repeat containing 1			53784332		0.398	ENSG00000137269	8798	g.chr6:53784332G>C		cytoplasm|membrane								-9.84261	KEEP	3	0	-1	46	31	3	0	-1	7.544932	46	31	0.039474	1	0	0	0	0	1	0	0	0	--	--		0	C				164	GBM-19-2624-TP	p.K381N	G	CTGCCTTGAAGTTGAAGGCTC	NM_018214	NP_060684	53784332	Q9BTT6	LRRC1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(397;0.0745)	12	1420	+	C	C	Lung NSC(77;0.0147)		Missense_Mutation	381						
LRRC14	9684	broad.mit.edu	GRCh37	8	145746502	145746502	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0939-01	TCGA-06-0939-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000292524.1:c.1122G>C	p.Glu374Asp	p.E374D	ENST00000292524	NM_014665.3	374	gaG/gaC	0			1			C	E/D	uc003zdk.1	protein_coding	YES	CCDS6432.1			1122/1482										0	c.(1120-1122)GAG>GAC			hmmpanther:PTHR14224:SF9,hmmpanther:PTHR14224,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	leucine rich repeat containing 14				ENSP00000292524		4-Apr									COSM2152385	4-Apr	.		ENST00000292524	Transcript						ENSG00000160959	g.chr8:145746502G>C	20419			MODERATE		1.175	low	getma.org/?cm=msa&ty=f&p=LRC14_HUMAN&rb=201&re=400&var=E374D	NA	getma.org/?cm=var&var=hg19,8,145746502,G,C&fts=all	E374D	--	--	1																																		LRRC14_uc003zdl.1_Missense_Mutation_p.E374D|LRRC14_uc003zdo.2_5'Flank	1	1		benign(0.07)	p.E374D	NM_014665	NP_055480		tolerated(0.1)	1	LRC14_HUMAN	LRRC14	HGNC	Q15048	LRC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		E9PRP5_HUMAN,E9PP40_HUMAN,E9PNL0_HUMAN		4	1268	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		UPI000004EC76	374			LRR 4.		SNV	LRRC14,missense_variant,p.Glu374Asp,ENST00000292524,NM_014665.3,NM_001272036.1;LRRC14,missense_variant,p.Glu374Asp,ENST00000529022,;RECQL4,upstream_gene_variant,,ENST00000428558,NM_004260.3;C8orf82,downstream_gene_variant,,ENST00000524821,;LRRC24,downstream_gene_variant,,ENST00000529415,;LRRC24,downstream_gene_variant,,ENST00000533758,NM_001024678.3;LRRC14,downstream_gene_variant,,ENST00000527730,;LRRC14,downstream_gene_variant,,ENST00000530854,;RECQL4,upstream_gene_variant,,ENST00000524998,;LRRC14,downstream_gene_variant,,ENST00000525766,;RECQL4,upstream_gene_variant,,ENST00000532237,;RECQL4,upstream_gene_variant,,ENST00000532269,;LRRC14,upstream_gene_variant,,ENST00000528528,;LRRC14,upstream_gene_variant,,ENST00000529995,;LRRC14,upstream_gene_variant,,ENST00000530242,;LRRC14,downstream_gene_variant,,ENST00000531310,;RECQL4,upstream_gene_variant,,ENST00000534538,;RECQL4,upstream_gene_variant,,ENST00000534270,;	uc003zdk.1	c.1122G>C	1268/5323	3	3			c.1122G>C						8	SNP	c.(1120-1122)GAG>GAC	7	7				0	Broad	leucine rich repeat containing 14			145746502		0.597	ENSG00000160959	8800	g.chr8:145746502G>C										51.175419	KEEP	15	15	-1	42	24	15	15	-1	53.959791	42	24	0.271186	1	0	0	0	0	1	0	0	0	--	--		0	C			LRRC14_uc003zdl.1_Missense_Mutation_p.E374D|LRRC14_uc003zdo.2_5'Flank	78	GBM-06-0939-TP	p.E374D	G	AGCTGACTGAGTGTCAGCTCG	NM_014665	NP_055480	145746502	Q15048	LRC14_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		4	1268	+	C	C	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	374			LRR 4.			
LRRC16A			GRCh37	6	25606465	25606465	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2510-01	TCGA-28-2510-01																				ENST00000329474.6:c.3811G>A	p.Val1271Ile	p.V1271I	ENST00000329474	NM_001173977.1	1271	Gtc/Atc	0																																																																																																																																																																																																																																												
LRRC16A			GRCh37	6	25450163	25450163	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000329474.6:c.409C>T	p.Arg137Cys	p.R137C	ENST00000329474	NM_001173977.1	137	Cgc/Tgc	0																																																																																																																																																																																																																																												
LRRC16B	0	broad.mit.edu	GRCh37	14	24538046	24538046	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-1804-01	TCGA-06-1804-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342740.5:c.3853A>G	p.Arg1285Gly	p.R1285G	ENST00000342740	NM_138360.3	1285	Agg/Ggg	0			1			G	R/G	uc001wlj.2	protein_coding	YES	CCDS32054.1			3853/4119									ovary(2)|breast(2)|pancreas(1)	5	c.(3853-3855)AGG>GGG				leucine rich repeat containing 16B				ENSP00000340467		38/40									COSM2152494	38/40	.		ENST00000342740	Transcript						ENSG00000186648	g.chr14:24538046A>G	20272			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=LR16B_HUMAN&rb=1276&re=1372&var=R1285G	NA	getma.org/?cm=var&var=hg19,14,24538046,A,G&fts=all	R1285G	--	--	1																																		LRRC16B_uc001wlk.2_Missense_Mutation_p.R338G|CPNE6_uc010tnv.1_5'Flank|CPNE6_uc001wlm.2_5'Flank|CPNE6_uc001wll.2_5'Flank	1	1		unknown(0)	p.R1285G	NM_138360	NP_612369		tolerated_low_confidence(0.06)	1	LR16B_HUMAN	LRRC16B	HGNC	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)			38	4010	+			UPI0000DBEF11	1285					SNV	LRRC16B,missense_variant,p.Arg1285Gly,ENST00000342740,NM_138360.3;LRRC16B,missense_variant,p.Arg338Gly,ENST00000334420,;CPNE6,upstream_gene_variant,,ENST00000397016,NM_001280558.1;CPNE6,upstream_gene_variant,,ENST00000537691,;CPNE6,upstream_gene_variant,,ENST00000216775,NM_006032.3;CPNE6,upstream_gene_variant,,ENST00000558541,;CPNE6,upstream_gene_variant,,ENST00000560356,;CPNE6,upstream_gene_variant,,ENST00000560761,;CPNE6,upstream_gene_variant,,ENST00000558450,;CPNE6,upstream_gene_variant,,ENST00000558859,;CPNE6,upstream_gene_variant,,ENST00000560828,;CPNE6,upstream_gene_variant,,ENST00000560884,;CPNE6,upstream_gene_variant,,ENST00000559197,;CPNE6,upstream_gene_variant,,ENST00000559207,;CPNE6,upstream_gene_variant,,ENST00000559778,;CPNE6,upstream_gene_variant,,ENST00000557889,;CPNE6,upstream_gene_variant,,ENST00000560092,;LRRC16B,non_coding_transcript_exon_variant,,ENST00000559694,;LRRC16B,non_coding_transcript_exon_variant,,ENST00000560349,;CPNE6,upstream_gene_variant,,ENST00000460657,;CPNE6,upstream_gene_variant,,ENST00000558995,;CPNE6,upstream_gene_variant,,ENST00000558795,;	uc001wlj.2	c.3853A>G	4007/4597	3	3			c.3853A>G						14	SNP	c.(3853-3855)AGG>GGG	57	57			ovary(2)|breast(2)|pancreas(1)	5	Broad	leucine rich repeat containing 16B			24538046		0.637	ENSG00000186648	8804	g.chr14:24538046A>G										24.257045	KEEP	5	10	-1	13	24	5	10	-1	26.302763	13	24	0.25	1	0	0	0	0	1	0	0	0	--	--		0	G			LRRC16B_uc001wlk.2_Missense_Mutation_p.R338G|CPNE6_uc010tnv.1_5'Flank|CPNE6_uc001wlm.2_5'Flank|CPNE6_uc001wll.2_5'Flank	79	GBM-06-1804-TP	p.R1285G	A	GGCTGTGCCCAGGGGCCGCCA	NM_138360	NP_612369	24538046	Q8ND23	LR16B_HUMAN	0		GBM - Glioblastoma multiforme(265;0.019)	38	4010	+	G	G			Missense_Mutation	1285						
LRRC16B	0	broad.mit.edu	GRCh37	14	24524519	24524519	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01	TCGA-06-2559-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342740.5:c.605G>A	p.Arg202Gln	p.R202Q	ENST00000342740	NM_138360.3	202	cGa/cAa	0		A:0.0008	1	A:0		A	R/Q	uc001wlj.2	protein_coding	YES	CCDS32054.1			605/4119									ovary(2)|breast(2)|pancreas(1)	5	c.(604-606)CGA>CAA			hmmpanther:PTHR24112,hmmpanther:PTHR24112:SF32,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	leucine rich repeat containing 16B		A:0		ENSP00000340467	A:0	Aug-40	4.94E-05	9.63E-05		0.000116		6.00E-05			rs182632230,COSM3401249	Aug-40	.		ENST00000342740	Transcript		A:0.0002				ENSG00000186648	g.chr14:24524519G>A	20272			MODERATE		1.76	low	getma.org/?cm=msa&ty=f&p=LR16B_HUMAN&rb=201&re=400&var=R202Q	NA	getma.org/?cm=var&var=hg19,14,24524519,G,A&fts=all	R202Q	--	--	1																																			0,1	1		probably_damaging(0.946)	p.R202Q	NM_138360	NP_612369	A:0	deleterious(0)	0,1	LR16B_HUMAN	LRRC16B	HGNC	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)			8	762	+			UPI0000DBEF11	202					SNV	LRRC16B,missense_variant,p.Arg202Gln,ENST00000342740,NM_138360.3;LRRC16B,splice_region_variant,,ENST00000334420,;RP11-468E2.9,downstream_gene_variant,,ENST00000558293,;RP11-468E2.9,downstream_gene_variant,,ENST00000559270,;RP11-468E2.9,downstream_gene_variant,,ENST00000558622,;LRRC16B,upstream_gene_variant,,ENST00000559694,;RP11-468E2.9,downstream_gene_variant,,ENST00000606840,;RP11-468E2.9,downstream_gene_variant,,ENST00000397065,;	uc001wlj.2	c.605G>A	759/4597	2	2			c.605G>A						14	SNP	c.(604-606)CGA>CAA	36	36			ovary(2)|breast(2)|pancreas(1)	5	Broad	leucine rich repeat containing 16B			24524519		0.552	ENSG00000186648	8804	g.chr14:24524519G>A										30.084294	KEEP	5	12	-1	54	72	5	12	-1	47.557144	54	72	0.129771	1	0	0	0	0	1	0	0	0	--	--		0	A				83	GBM-06-2559-TP	p.R202Q	G	TTGGAGAGCCGGTAAGCAGAT	NM_138360	NP_612369	24524519	Q8ND23	LR16B_HUMAN	0		GBM - Glioblastoma multiforme(265;0.019)	8	762	+	A	A			Missense_Mutation	202						
LRRC18	0	broad.mit.edu	GRCh37	10	50121795	50121795	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs138127999		TCGA-32-1982-01	TCGA-32-1982-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298124.3:c.406G>A	p.Val136Met	p.V136M	ENST00000298124		136	Gtg/Atg	0	T:0.0002	T:0	1	T:0.0014		T	V/M	uc001jhd.2	protein_coding					406/768									ovary(1)|pancreas(1)	2	c.(406-408)GTG>ATG			Superfamily_domains:SSF52058,SMART_domains:SM00369,Gene3D:3.80.10.10,hmmpanther:PTHR23155:SF22,hmmpanther:PTHR23155,PROSITE_profiles:PS51450	leucine rich repeat containing 18		T:0	T:0.0001	ENSP00000298124	T:0	2-Feb	0.000469	0.000192	0.00338			0.000135	0.00333	0.000243	rs138127999,COSM2144922	2-Feb	common_variant		ENST00000298124	Transcript		T:0.0002		cytoplasm		ENSG00000165383	g.chr10:50121795C>T	23199			MODERATE		2.335	medium	getma.org/?cm=msa&ty=f&p=LRC18_HUMAN&rb=113&re=261&var=V136M	NA	getma.org/?cm=var&var=hg19,10,50121795,C,T&fts=all	V136M	--	--	1																																		WDFY4_uc001jha.3_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.V136M	0,1			benign(0.145)	p.V136M	NM_001006939	NP_001006940	T:0	deleterious(0.01)	0,1	LRC18_HUMAN	LRRC18	HGNC	Q8N456	LRC18_HUMAN					1	486	-			UPI000013E49A	136			LRR 5.		SNV	LRRC18,missense_variant,p.Val136Met,ENST00000374160,NM_001006939.3;LRRC18,missense_variant,p.Val136Met,ENST00000298124,;WDFY4,intron_variant,,ENST00000325239,NM_020945.1;WDFY4,intron_variant,,ENST00000413659,;WDFY4,intron_variant,,ENST00000265453,;RP11-523O18.7,intron_variant,,ENST00000430438,;	uc001jhd.2	c.406G>A	507/1008	1	1			c.406G>A						10	SNP	c.(406-408)GTG>ATG	1	1			ovary(1)|pancreas(1)	2	Broad	leucine rich repeat containing 18			50121795		0.602	ENSG00000165383	8806	g.chr10:50121795C>T		cytoplasm								30.720322	KEEP	6	9	-1	14	9	6	9	-1	31.656517	14	9	0.323529	1	0	0	0	0	1	0	0	0	--	--		0	T			WDFY4_uc001jha.3_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.V136M	232	GBM-32-1982-TP	p.V136M	C	GTGGTGGGCACGCTGTCCAGG	NM_001006939	NP_001006940	50121795	Q8N456	LRC18_HUMAN	0			1	486	-	T	T			Missense_Mutation	136			LRR 5.			
LRRC18	474354		GRCh37	10	50121549	50121549	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000374160.3:c.652C>T	p.Arg218Trp	p.R218W	ENST00000374160	NM_001006939.3	218	Cgg/Tgg	0																																																																																																																																																																																																																																												
LRRC24	0	broad.mit.edu	GRCh37	8	145749853	145749853	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-4934-01	TCGA-76-4934-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000529415.2:c.410T>C	p.Leu137Pro	p.L137P	ENST00000529415		137	cTg/cCg	0			1			G	L/P	uc003zdm.2	protein_coding	YES	CCDS34969.1			410/1542										0	c.(409-411)CTG>CCG			Superfamily_domains:SSF52058,SMART_domains:SM00369,Gene3D:3.80.10.10,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF255,PROSITE_profiles:PS51450	leucine rich repeat containing 24 precursor				ENSP00000434849		5-Mar									COSM3412870	5-Mar	.		ENST00000529415	Transcript				integral to membrane		ENSG00000254402	g.chr8:145749853A>G	28947			MODERATE		2.64	medium	getma.org/?cm=msa&ty=f&p=LRC24_HUMAN&rb=98&re=158&var=L137P	getma.org/pdb.php?prot=LRC24_HUMAN&from=98&to=158&var=L137P	getma.org/?cm=var&var=hg19,8,145749853,A,G&fts=all	L137P	--	--	1																																		LRRC24_uc003zdn.2_Missense_Mutation_p.L137P|LRRC14_uc003zdk.1_3'UTR|LRRC14_uc003zdl.1_3'UTR|LRRC14_uc003zdo.2_RNA	1	1		probably_damaging(0.999)	p.L137P	NM_001024678	NP_001019849		deleterious(0)	1	LRC24_HUMAN	LRRC24	HGNC	Q50LG9	LRC24_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)				3	542	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		UPI0000419443	137			LRR 4.		SNV	LRRC24,missense_variant,p.Leu137Pro,ENST00000529415,;LRRC24,missense_variant,p.Leu137Pro,ENST00000533758,NM_001024678.3;LRRC14,3_prime_UTR_variant,,ENST00000292524,NM_014665.3,NM_001272036.1;ARHGAP39,downstream_gene_variant,,ENST00000276826,;ARHGAP39,downstream_gene_variant,,ENST00000377307,NM_025251.1;C8orf82,downstream_gene_variant,,ENST00000524821,;LRRC14,downstream_gene_variant,,ENST00000529022,;C8orf82,downstream_gene_variant,,ENST00000313465,NM_001001795.1;LRRC14,downstream_gene_variant,,ENST00000527730,;C8orf82,downstream_gene_variant,,ENST00000532827,;LRRC14,downstream_gene_variant,,ENST00000530854,;LRRC14,downstream_gene_variant,,ENST00000525766,;C8orf82,downstream_gene_variant,,ENST00000527462,;LRRC14,non_coding_transcript_exon_variant,,ENST00000529995,;LRRC14,downstream_gene_variant,,ENST00000528528,;LRRC14,downstream_gene_variant,,ENST00000530242,;C8orf82,downstream_gene_variant,,ENST00000534680,;LRRC14,downstream_gene_variant,,ENST00000531310,;	uc003zdm.2	c.410T>C	528/1758	3	3			c.410T>C						8	SNP	c.(409-411)CTG>CCG	7	7				0	Broad	leucine rich repeat containing 24 precursor			145749853		0.662	ENSG00000254402	8811	g.chr8:145749853A>G		integral to membrane								2.60225	KEEP	1	2	-1	18	28	1	2	-1	7.397336	18	28	0.1	1	0	0	0	0	1	0	0	0	--	--		0	G			LRRC24_uc003zdn.2_Missense_Mutation_p.L137P|LRRC14_uc003zdk.1_3'UTR|LRRC14_uc003zdl.1_3'UTR|LRRC14_uc003zdo.2_RNA	272	GBM-76-4934-TP	p.L137P	A	GAAATCCAGCAGCCGCGCCAG	NM_001024678	NP_001019849	145749853	Q50LG9	LRC24_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		3	542	-	G	G	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	137			LRR 4.			
LRRC27	80313		GRCh37	10	134165159	134165159	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000368614.3:c.975G>A	p.Pro325=	p.P325=	ENST00000368614	NM_030626.2	325	ccG/ccA	0																																																																																																																																																																																																																																												
LRRC28	123355	broad.mit.edu	GRCh37	15	99901711	99901711	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0214-01	TCGA-06-0214-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301981.3:c.866T>A	p.Leu289Gln	p.L289Q	ENST00000301981	NM_144598.2	289	cTg/cAg	0			1			A	L/Q	uc002bva.1	protein_coding	YES	CCDS10380.1			866/1104										0	c.(865-867)CTG>CAG			hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF433	leucine rich repeat containing 28				ENSP00000304923		10-Aug									COSM3402046	10-Aug	.		ENST00000301981	Transcript						ENSG00000168904	g.chr15:99901711T>A	28355			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=LRC28_HUMAN&rb=170&re=367&var=L289Q	NA	getma.org/?cm=var&var=hg19,15,99901711,T,A&fts=all	L289Q	--	--	1																																OREG0023509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	LRRC28_uc010urs.1_RNA|LRRC28_uc002bvb.1_Missense_Mutation_p.L135Q|LRRC28_uc010urt.1_Missense_Mutation_p.L103Q|LRRC28_uc002bvc.1_Missense_Mutation_p.L289Q|LRRC28_uc010uru.1_Missense_Mutation_p.L220Q|LRRC28_uc002bvd.1_Intron	1	1		benign(0.044)	p.L289Q	NM_144598	NP_653199		tolerated(0.14)	1	LRC28_HUMAN	LRRC28	HGNC	Q86X40	LRC28_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00106)		Q8NB41_HUMAN,H0YNW4_HUMAN,H0YKF6_HUMAN,B4DK22_HUMAN		8	1021	+	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		UPI000000DBCB	289					SNV	LRRC28,missense_variant,p.Leu289Gln,ENST00000301981,NM_144598.2;LRRC28,missense_variant,p.Leu220Gln,ENST00000422500,;LRRC28,missense_variant,p.Leu289Gln,ENST00000447360,NM_001284400.1;LRRC28,missense_variant,p.Leu244Gln,ENST00000561276,;LRRC28,missense_variant,p.Leu185Gln,ENST00000558172,;LRRC28,3_prime_UTR_variant,,ENST00000442993,;LRRC28,intron_variant,,ENST00000331450,;LRRC28,intron_variant,,ENST00000558879,;LRRC28,3_prime_UTR_variant,,ENST00000559433,;LRRC28,3_prime_UTR_variant,,ENST00000558471,;LRRC28,non_coding_transcript_exon_variant,,ENST00000559819,;LRRC28,non_coding_transcript_exon_variant,,ENST00000558890,;LRRC28,non_coding_transcript_exon_variant,,ENST00000560483,;LRRC28,upstream_gene_variant,,ENST00000560236,;	uc002bva.1	c.866T>A	1106/5971	2	2			c.866T>A						15	SNP	c.(865-867)CTG>CAG	25	25				0	Broad	leucine rich repeat containing 28			99901711		0.458	ENSG00000168904	8814	g.chr15:99901711T>A										187.482731	KEEP	32	36	-1	48	77	32	36	-1	190.429158	48	77	0.357576	1	0	0	0	0	1	0	0	0	--	--		0	A	OREG0023509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	LRRC28_uc010urs.1_RNA|LRRC28_uc002bvb.1_Missense_Mutation_p.L135Q|LRRC28_uc010urt.1_Missense_Mutation_p.L103Q|LRRC28_uc002bvc.1_Missense_Mutation_p.L289Q|LRRC28_uc010uru.1_Missense_Mutation_p.L220Q|LRRC28_uc002bvd.1_Intron	50	GBM-06-0214-TP	p.L289Q	T	CACAGCTTGCTGAAAGGTACG	NM_144598	NP_653199	99901711	Q86X40	LRC28_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(32;0.00106)		8	1021	+	A	A	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		Missense_Mutation	289						
LRRC3	81543	broad.mit.edu	GRCh37	21	45877207	45877207	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000291592.4:c.680G>A	p.Arg227His	p.R227H	ENST00000291592	NM_030891.3	227	cGc/cAc	0			1			A	R/H	uc002zfa.2	protein_coding	YES	CCDS13711.1			680/774										0	c.(679-681)CGC>CAC			hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF135	leucine-rich repeat-containing 3 precursor				ENSP00000291592		2-Feb	8.24E-06					1.52E-05			rs762873562,COSM2149613	2-Feb	.		ENST00000291592	Transcript				integral to membrane	protein binding	ENSG00000160233	g.chr21:45877207G>A	14965			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=LRRC3_HUMAN&rb=137&re=257&var=R227H	NA	getma.org/?cm=var&var=hg19,21,45877207,G,A&fts=all	R227H	--	--	1																																			0,1	1		probably_damaging(0.996)	p.R227H	NM_030891	NP_112153		deleterious(0)	0,1	LRRC3_HUMAN	LRRC3	HGNC	Q9BY71	LRRC3_HUMAN		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)			2	973	+		Breast(209;0.00908)	UPI000012E946	227					SNV	LRRC3,missense_variant,p.Arg227His,ENST00000291592,NM_030891.3;LRRC3DN,upstream_gene_variant,,ENST00000596691,;LRRC3-AS1,upstream_gene_variant,,ENST00000426578,;	uc002zfa.2	c.680G>A	997/2529	2	2			c.680G>A						21	SNP	c.(679-681)CGC>CAC	21	21				0	Broad	leucine-rich repeat-containing 3 precursor			45877207		0.662	ENSG00000160233	8816	g.chr21:45877207G>A		integral to membrane	protein binding							114.985836	KEEP	24	20	-1	29	27	24	20	-1	115.326558	29	27	0.434783	1	0	0	0	0	1	0	0	0	--	--		0	A				18	GBM-06-0137-TP	p.R227H	G	TACTATGTGCGCCACAACCAG	NM_030891	NP_112153	45877207	Q9BY71	LRRC3_HUMAN	0		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)	2	973	+	A	A		Breast(209;0.00908)	Missense_Mutation	227						
LRRC30	0	broad.mit.edu	GRCh37	18	7231759	7231759	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-12-5295-01	TCGA-12-5295-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000383467.2:c.623T>C	p.Leu208Pro	p.L208P	ENST00000383467	NM_001105581.1	208	cTg/cCg	0			1			C	L/P	uc010wzk.1	protein_coding	YES	CCDS42409.1			623/906									ovary(1)|liver(1)	2	c.(622-624)CTG>CCG			PROSITE_profiles:PS51450,hmmpanther:PTHR23155,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	leucine rich repeat containing 30				ENSP00000372959		1-Jan									COSM3403651	1-Jan	.		ENST00000383467	Transcript						ENSG00000206422	g.chr18:7231759T>C	30219			MODERATE		3.785	high	getma.org/?cm=msa&ty=f&p=LRC30_HUMAN&rb=181&re=232&var=L208P	NA	getma.org/?cm=var&var=hg19,18,7231759,T,C&fts=all	L208P	--	--	1																																			1	1		probably_damaging(0.956)	p.L208P	NM_001105581	NP_001099051		deleterious(0)	1	LRC30_HUMAN	LRRC30	HGNC	A6NM36	LRC30_HUMAN					1	623	+			UPI00001D7ABB	208			LRR 6.		SNV	LRRC30,missense_variant,p.Leu208Pro,ENST00000383467,NM_001105581.1;	uc010wzk.1	c.623T>C	637/923	4	4			c.623T>C						18	SNP	c.(622-624)CTG>CCG	42	42			ovary(1)|liver(1)	2	Broad	leucine rich repeat containing 30			7231759		0.562	ENSG00000206422	8817	g.chr18:7231759T>C										98.8976	KEEP	20	17	-1	43	34	20	17	-1	100.881182	43	34	0.35	1	0	0	0	0	1	0	0	0	--	--		0	C				129	GBM-12-5295-TP	p.L208P	T	ATCCAGCACCTGGCCAGCCTG	NM_001105581	NP_001099051	7231759	A6NM36	LRC30_HUMAN	0			1	623	+	C	C			Missense_Mutation	208			LRR 6.			
LRRC30	0	broad.mit.edu	GRCh37	18	7231386	7231386	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01	TCGA-76-4927-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000383467.2:c.250C>T	p.Arg84Trp	p.R84W	ENST00000383467	NM_001105581.1	84	Cgg/Tgg	0			1			T	R/W	uc010wzk.1	protein_coding	YES	CCDS42409.1			250/906									ovary(1)|liver(1)	2	c.(250-252)CGG>TGG			PROSITE_profiles:PS51450,hmmpanther:PTHR23155,Pfam_domain:PF12799,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	leucine rich repeat containing 30				ENSP00000372959		1-Jan									COSM3403649	1-Jan	.		ENST00000383467	Transcript						ENSG00000206422	g.chr18:7231386C>T	30219			MODERATE		1.64	low	getma.org/?cm=msa&ty=f&p=LRC30_HUMAN&rb=71&re=115&var=R84W	getma.org/pdb.php?prot=LRC30_HUMAN&from=71&to=115&var=R84W	getma.org/?cm=var&var=hg19,18,7231386,C,T&fts=all	R84W	--	--	1																																			1	1		possibly_damaging(0.809)	p.R84W	NM_001105581	NP_001099051		tolerated(0.18)	1	LRC30_HUMAN	LRRC30	HGNC	A6NM36	LRC30_HUMAN					1	250	+			UPI00001D7ABB	84			LRR 1.		SNV	LRRC30,missense_variant,p.Arg84Trp,ENST00000383467,NM_001105581.1;	uc010wzk.1	c.250C>T	264/923	2	2			c.250C>T						18	SNP	c.(250-252)CGG>TGG	42	42			ovary(1)|liver(1)	2	Broad	leucine rich repeat containing 30			7231386		0.587	ENSG00000206422	8817	g.chr18:7231386C>T										153.991691	KEEP	29	28	-1	40	53	29	28	-1	156.214971	40	53	0.366197	1	0	0	0	0	1	0	0	0	--	--		0	T				267	GBM-76-4927-TP	p.R84W	C	CAACCAGCTCCGGGTTCTCCC	NM_001105581	NP_001099051	7231386	A6NM36	LRC30_HUMAN	0			1	250	+	T	T			Missense_Mutation	84			LRR 1.			
LRRC31	0	broad.mit.edu	GRCh37	3	169579511	169579511	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-14-1034-01	TCGA-14-1034-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316428.5:c.266A>G	p.Lys89Arg	p.K89R	ENST00000316428	NM_024727.3	89	aAg/aGg	0			1			C	K/R	uc003fgc.1	protein_coding	YES	CCDS43167.1			266/1659									ovary(2)|skin(1)	3	c.(265-267)AAG>AGG			hmmpanther:PTHR24109,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047	leucine rich repeat containing 31				ENSP00000325978		9-Feb									COSM2155212	9-Feb	.		ENST00000316428	Transcript						ENSG00000114248	g.chr3:169579511T>C	26261			MODERATE		0.62	neutral	getma.org/?cm=msa&ty=f&p=LRC31_HUMAN&rb=65&re=264&var=K89R	NA	getma.org/?cm=var&var=hg19,3,169579511,T,C&fts=all	K89R	--	--	1																																		LRRC31_uc010hwp.1_Missense_Mutation_p.K89R	1	1		benign(0.008)	p.K89R	NM_024727	NP_079003		tolerated(0.16)	1	LRC31_HUMAN	LRRC31	HGNC	Q6UY01	LRC31_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)				2	343	-	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		UPI00001D690F	89					SNV	LRRC31,missense_variant,p.Lys89Arg,ENST00000316428,NM_024727.3,NM_001277127.1;LRRC31,missense_variant,p.Lys89Arg,ENST00000264676,NM_001277128.1;LRRC31,missense_variant,p.Lys89Arg,ENST00000523069,;LRRC31,non_coding_transcript_exon_variant,,ENST00000397805,;	uc003fgc.1	c.266A>G	324/2520	3	3			c.266A>G						3	SNP	c.(265-267)AAG>AGG	63	63			ovary(2)|skin(1)	3	Broad	leucine rich repeat containing 31			169579511		0.428	ENSG00000114248	8818	g.chr3:169579511T>C										500.079939	KEEP	79	79	-1	149	154	79	79	-1	508.3742	149	154	0.350711	1	0	0	0	0	1	0	0	0	--	--		0	C			LRRC31_uc010hwp.1_Missense_Mutation_p.K89R	142	GBM-14-1034-TP	p.K89R	T	ATCTAGACACTTGTTGACAGC	NM_024727	NP_079003	169579511	Q6UY01	LRC31_HUMAN	0	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)		2	343	-	C	C	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Missense_Mutation	89						
LRRC31	0	broad.mit.edu	GRCh37	3	169557943	169557943	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-14-1395-01	TCGA-14-1395-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316428.5:c.1486C>T	p.Arg496Ter	p.R496*	ENST00000316428	NM_024727.3	496	Cga/Tga	0	A:0.0003		1			A	R/*	uc003fgc.1	protein_coding	YES	CCDS43167.1			1486/1659									ovary(2)|skin(1)	3	c.(1486-1488)CGA>TGA			hmmpanther:PTHR24109,Gene3D:3.80.10.10	leucine rich repeat containing 31			A:0	ENSP00000325978		9-Sep	8.27E-06	0.000102							rs370737804,COSM3408418	9-Sep	.		ENST00000316428	Transcript						ENSG00000114248	g.chr3:169557943G>A	26261			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,3,169557943,G,A&fts=all	R496*	--	--	1																																		LRRC31_uc010hwp.1_Nonsense_Mutation_p.R440*	0,1	1			p.R496*	NM_024727	NP_079003			0,1	LRC31_HUMAN	LRRC31	HGNC	Q6UY01	LRC31_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)				9	1563	-	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		UPI00001D690F	496					SNV	LRRC31,stop_gained,p.Arg496Ter,ENST00000316428,NM_024727.3,NM_001277127.1;LRRC31,stop_gained,p.Arg440Ter,ENST00000264676,NM_001277128.1;LRRC31,3_prime_UTR_variant,,ENST00000523069,;LRRIQ4,downstream_gene_variant,,ENST00000340806,NM_001080460.1;	uc003fgc.1	c.1486C>T	1544/2520	5	1			c.1486C>T						3	SNP	c.(1486-1488)CGA>TGA	59	59			ovary(2)|skin(1)	3	Broad	leucine rich repeat containing 31			169557943		0.453	ENSG00000114248	8818	g.chr3:169557943G>A										100.438711	KEEP	17	19	-1	21	31	17	19	-1	100.89299	21	31	0.419753	1	0	0	0	0	0	1	0	0	--	--		0	A			LRRC31_uc010hwp.1_Nonsense_Mutation_p.R440*	144	GBM-14-1395-TP	p.R496*	G	CCACAATCTCGAAAATTTGAT	NM_024727	NP_079003	169557943	Q6UY01	LRC31_HUMAN	0	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)		9	1563	-	A	A	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Nonsense_Mutation	496						
LRRC32	0	broad.mit.edu	GRCh37	11	76371933	76371933	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs147861179		TCGA-76-4929-01	TCGA-76-4929-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260061.5:c.704C>T	p.Thr235Met	p.T235M	ENST00000260061	NM_001128922.1	235	aCg/aTg	0	A:0.0002		1			A	T/M	uc001oxq.3	protein_coding		CCDS8245.1			704/1989										0	c.(703-705)ACG>ATG			Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF237,Superfamily_domains:SSF52058	leucine rich repeat containing 32 precursor			A:0	ENSP00000260061		3-Mar	5.77E-05		0.000259			6.01E-05			rs147861179,COSM3398142	3-Mar	.		ENST00000260061	Transcript				integral to plasma membrane		ENSG00000137507	g.chr11:76371933G>A	4161			MODERATE		1.085	low	getma.org/?cm=msa&ty=f&p=LRC32_HUMAN&rb=210&re=315&var=T235M	NA	getma.org/?cm=var&var=hg19,11,76371933,G,A&fts=all	T235M	--	--	1																																		LRRC32_uc001oxr.3_Missense_Mutation_p.T235M|LRRC32_uc010rsf.1_Missense_Mutation_p.T235M	0,1			benign(0.133)	p.T235M	NM_005512	NP_005503		tolerated(0.09)	0,1	LRC32_HUMAN	LRRC32	HGNC	Q14392	LRC32_HUMAN			C9JYU3_HUMAN		3	947	-			UPI000012B0DF	235			LRR 8.|Extracellular (Potential).		SNV	LRRC32,missense_variant,p.Thr235Met,ENST00000407242,NM_005512.2;LRRC32,missense_variant,p.Thr235Met,ENST00000260061,NM_001128922.1;LRRC32,missense_variant,p.Thr235Met,ENST00000404995,;LRRC32,downstream_gene_variant,,ENST00000421973,;RP11-672A2.4,upstream_gene_variant,,ENST00000531511,;AP001189.4,intron_variant,,ENST00000447519,;LRRC32,intron_variant,,ENST00000464145,;	uc001oxq.3	c.704C>T	842/4207	1	1			c.704C>T						11	SNP	c.(703-705)ACG>ATG	64	64				0	Broad	leucine rich repeat containing 32 precursor			76371933		0.617	ENSG00000137507	8819	g.chr11:76371933G>A		integral to plasma membrane								-10.738928	KEEP	0	4	-1	48	38	0	4	-1	6.704725	48	38	0.049383	1	0	0	0	0	1	0	0	0	--	--		0	A			LRRC32_uc001oxr.3_Missense_Mutation_p.T235M|LRRC32_uc010rsf.1_Missense_Mutation_p.T235M	269	GBM-76-4929-TP	p.T235M	G	CTGGGAGGCCGTCTGAAAGGC	NM_005512	NP_005503	76371933	Q14392	LRC32_HUMAN	0			3	947	-	A	A			Missense_Mutation	235			LRR 8.|Extracellular (Potential).			
LRRC32	2615		GRCh37	11	76372493	76372493	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000407242.2:c.144G>A	p.Pro48=	p.P48=	ENST00000407242	NM_005512.2	48	ccG/ccA	0																																																																																																																																																																																																																																												
LRRC37A3	0	broad.mit.edu	GRCh37	17	62893283	62893283	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-28-5208-01	TCGA-28-5208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319651.5:c.93G>C	p.Trp31Cys	p.W31C	ENST00000319651		31	tgG/tgC	0			1			G	W/C	uc002jey.2	protein_coding		CCDS32708.1			93/4905										0	c.(91-93)TGG>TGC			Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23045	leucine rich repeat containing 37, member A3				ENSP00000325713		12-Jan									COSM3403125	12-Jan	.		ENST00000319651	Transcript				integral to membrane		ENSG00000176809	g.chr17:62893283C>G	32427			MODERATE		1.525	low	getma.org/?cm=msa&ty=f&p=L37A3_HUMAN&rb=1&re=865&var=W31C	NA	getma.org/?cm=var&var=hg19,17,62893283,C,G&fts=all	W31C	--	--	1																																		LRRC37A3_uc010wqg.1_Intron|LRRC37A3_uc010wqf.1_Intron	1			benign(0.001)	p.W31C	NM_199340	NP_955372		tolerated(0.1)	1	L37A3_HUMAN	LRRC37A3	HGNC	O60309	L37A3_HUMAN			F8W7X0_HUMAN,B4DSF2_HUMAN		3	624	-			UPI00005B2F0A	31					SNV	LRRC37A3,missense_variant,p.Trp31Cys,ENST00000584306,NM_199340.2;LRRC37A3,missense_variant,p.Trp31Cys,ENST00000319651,;LRRC37A3,intron_variant,,ENST00000400877,;LRRC37A3,intron_variant,,ENST00000339474,;LRRC37A3,intron_variant,,ENST00000581368,;LRRC37A3,upstream_gene_variant,,ENST00000584788,;LRRC37A3,upstream_gene_variant,,ENST00000580464,;RP11-927P21.1,intron_variant,,ENST00000584959,;RP11-927P21.1,intron_variant,,ENST00000584131,;RP11-927P21.2,upstream_gene_variant,,ENST00000581622,;RP11-927P21.1,downstream_gene_variant,,ENST00000577938,;LRRC37A3,downstream_gene_variant,,ENST00000577487,;LRRC37A3,downstream_gene_variant,,ENST00000580439,;RP11-927P21.9,downstream_gene_variant,,ENST00000607347,;	uc002jey.2	c.93G>C	496/5537	3	3			c.93G>C						17	SNP	c.(91-93)TGG>TGC	6	6				0	Broad	leucine rich repeat containing 37, member A3			62893283		0.622	ENSG00000176809	8824	g.chr17:62893283C>G		integral to membrane								84.912628	KEEP	31	26	-1	146	151	31	26	-1	104.567472	146	151	0.184834	1	0	0	0	0	1	0	0	0	--	--		0	G			LRRC37A3_uc010wqg.1_Intron|LRRC37A3_uc010wqf.1_Intron	217	GBM-28-5208-TP	p.W31C	C	TGACTAGTAGCCACAATAGTT	NM_199340	NP_955372	62893283	O60309	L37A3_HUMAN	0			3	624	-	G	G			Missense_Mutation	31						
LRRC37A3	0	broad.mit.edu	GRCh37	17	62856062	62856062	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs139735390	by1000genomes	TCGA-32-1977-01	TCGA-32-1977-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319651.5:c.4202T>G	p.Val1401Gly	p.V1401G	ENST00000319651		1401	gTt/gGt	0			1			C	V/G	uc002jey.2	protein_coding		CCDS32708.1			4202/4905										0	c.(4201-4203)GTT>GGT			hmmpanther:PTHR23045	leucine rich repeat containing 37, member A3				ENSP00000325713		12-Sep									COSM3403124	12-Sep	.		ENST00000319651	Transcript				integral to membrane		ENSG00000176809	g.chr17:62856062A>C	32427			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=L37A3_HUMAN&rb=977&re=1632&var=V1401G	NA	getma.org/?cm=var&var=hg19,17,62856062,A,C&fts=all	V1401G	--	--	1																																		LRRC37A3_uc010wqg.1_Missense_Mutation_p.V519G|LRRC37A3_uc002jex.1_Missense_Mutation_p.V378G|LRRC37A3_uc010wqf.1_Missense_Mutation_p.V439G|LRRC37A3_uc010dek.1_Missense_Mutation_p.V407G	1			benign(0.005)	p.V1401G	NM_199340	NP_955372		deleterious(0.01)	1	L37A3_HUMAN	LRRC37A3	HGNC	O60309	L37A3_HUMAN			F8W7X0_HUMAN,B4DSF2_HUMAN		11	4733	-			UPI00005B2F0A	1401			Extracellular (Potential).		SNV	LRRC37A3,missense_variant,p.Val1401Gly,ENST00000584306,NM_199340.2;LRRC37A3,missense_variant,p.Val1401Gly,ENST00000319651,;LRRC37A3,missense_variant,p.Val439Gly,ENST00000400877,;LRRC37A3,missense_variant,p.Val378Gly,ENST00000334962,;LRRC37A3,missense_variant,p.Val519Gly,ENST00000339474,;LRRC37A3,downstream_gene_variant,,ENST00000581368,;LRRC37A3,downstream_gene_variant,,ENST00000584788,;LRRC37A3,upstream_gene_variant,,ENST00000583510,;LRRC37A3,downstream_gene_variant,,ENST00000579305,;	uc002jey.2	c.4202T>G	4605/5537	4	4			c.4202T>G						17	SNP	c.(4201-4203)GTT>GGT	45	45				0	Broad	leucine rich repeat containing 37, member A3			62856062		0.368	ENSG00000176809	8824	g.chr17:62856062A>C		integral to membrane								67.752756	KEEP	12	15	-1	38	45	12	15	-1	74.103107	38	45	0.237624	1	0	0	0	0	1	0	0	0	--	--		0	C			LRRC37A3_uc010wqg.1_Missense_Mutation_p.V519G|LRRC37A3_uc002jex.1_Missense_Mutation_p.V378G|LRRC37A3_uc010wqf.1_Missense_Mutation_p.V439G|LRRC37A3_uc010dek.1_Missense_Mutation_p.V407G	229	GBM-32-1977-TP	p.V1401G	A	TTCCATAAAAACATTTTCTTC	NM_199340	NP_955372	62856062	O60309	L37A3_HUMAN	0			11	4733	-	C	C			Missense_Mutation	1401			Extracellular (Potential).			
LRRC3B	116135	broad.mit.edu	GRCh37	3	26751911	26751911	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0216-01	TCGA-06-0216-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396641.2:c.748G>A	p.Asp250Asn	p.D250N	ENST00000396641	NM_052953.2	250	Gat/Aat	0			1			A	D/N	uc003cdp.2	protein_coding	YES	CCDS2644.1			748/780									pancreas(2)|ovary(1)|skin(1)	4	c.(748-750)GAT>AAT				leucine rich repeat containing 3B precursor				ENSP00000379880		2-Feb									COSM2150883	2-Feb	.		ENST00000396641	Transcript				integral to membrane		ENSG00000179796	g.chr3:26751911G>A	28105			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=LRC3B_HUMAN&rb=137&re=259&var=D250N	NA	getma.org/?cm=var&var=hg19,3,26751911,G,A&fts=all	D250N	--	--	1																																		LRRC3B_uc003cdq.2_Missense_Mutation_p.D250N	1	1		benign(0.118)	p.D250N	NM_052953	NP_443185		tolerated(0.07)	1	LRC3B_HUMAN	LRRC3B	HGNC	Q96PB8	LRC3B_HUMAN			C9JMC7_HUMAN,C9J6A1_HUMAN		2	1337	+			UPI000000D990	250					SNV	LRRC3B,missense_variant,p.Asp250Asn,ENST00000396641,NM_052953.2;LRRC3B,missense_variant,p.Asp250Asn,ENST00000417744,;LRRC3B,missense_variant,p.Asp250Asn,ENST00000456208,;LRRC3B,downstream_gene_variant,,ENST00000432040,;LRRC3B,downstream_gene_variant,,ENST00000414619,;AC114877.3,upstream_gene_variant,,ENST00000446601,;LRRC3B,downstream_gene_variant,,ENST00000469437,;	uc003cdp.2	c.748G>A	1340/1696	2	2			c.748G>A						3	SNP	c.(748-750)GAT>AAT	41	41			pancreas(2)|ovary(1)|skin(1)	4	Broad	leucine rich repeat containing 3B precursor			26751911		0.418	ENSG00000179796	8827	g.chr3:26751911G>A		integral to membrane								75.162881	KEEP	13	12	-1	22	17	13	12	-1	75.596325	22	17	0.409836	1	0	0	0	0	1	0	0	0	--	--		0	A			LRRC3B_uc003cdq.2_Missense_Mutation_p.D250N	51	GBM-06-0216-TP	p.D250N	G	GAAGAAAGCAGATGAACCTGA	NM_052953	NP_443185	26751911	Q96PB8	LRC3B_HUMAN	0			2	1337	+	A	A			Missense_Mutation	250						
LRRC40	55631	broad.mit.edu	GRCh37	1	70641517	70641517	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-2559-01	TCGA-06-2559-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370952.3:c.953A>C	p.Asp318Ala	p.D318A	ENST00000370952	NM_017768.4	318	gAc/gCc	0			1			G	D/A	uc001der.1	protein_coding	YES	CCDS646.1			953/1809									ovary(1)	1	c.(952-954)GAC>GCC			Prints_domain:PR00019,Superfamily_domains:SSF52058,SMART_domains:SM00364,SMART_domains:SM00365,SMART_domains:SM00369,Pfam_domain:PF13855,Gene3D:3.80.10.10,hmmpanther:PTHR23155:SF424,hmmpanther:PTHR23155,PROSITE_profiles:PS51450	leucine rich repeat containing 40				ENSP00000359990		15-Jul									COSM2152659	15-Jul	.		ENST00000370952	Transcript						ENSG00000066557	g.chr1:70641517T>G	26004			MODERATE		2.82	medium	getma.org/?cm=msa&ty=f&p=LRC40_HUMAN&rb=265&re=324&var=D318A	NA	getma.org/?cm=var&var=hg19,1,70641517,T,G&fts=all	D318A	--	--	1																																			1	1		probably_damaging(0.995)	p.D318A	NM_017768	NP_060238		deleterious(0)	1	LRC40_HUMAN	LRRC40	HGNC	Q9H9A6	LRC40_HUMAN					7	1005	-			UPI000004A0A0	318			LRR 11.		SNV	LRRC40,missense_variant,p.Asp318Ala,ENST00000370952,NM_017768.4;RN7SL242P,downstream_gene_variant,,ENST00000491451,;	uc001der.1	c.953A>C	1033/2884	3	3			c.953A>C						1	SNP	c.(952-954)GAC>GCC	59	59			ovary(1)	1	Broad	leucine rich repeat containing 40			70641517		0.289	ENSG00000066557	8829	g.chr1:70641517T>G										121.508062	KEEP	19	20	-1	32	25	19	20	-1	122.312772	32	25	0.397727	1	0	0	0	0	1	0	0	0	--	--		0	G				83	GBM-06-2559-TP	p.D318A	T	GTTGCTTAGGTCAAGCCTTTC	NM_017768	NP_060238	70641517	Q9H9A6	LRC40_HUMAN	0			7	1005	-	G	G			Missense_Mutation	318			LRR 11.			
LRRC40	55631	broad.mit.edu	GRCh37	1	70611582	70611582	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-2565-01	TCGA-06-2565-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370952.3:c.1710A>G	p.Leu570=	p.L570=	ENST00000370952	NM_017768.4	570	ttA/ttG	0			1			C	L	uc001der.1	protein_coding	YES	CCDS646.1			1710/1809									ovary(1)	1	c.(1708-1710)TTA>TTG			Superfamily_domains:SSF52058,Pfam_domain:PF13855,Gene3D:3.80.10.10,hmmpanther:PTHR23155:SF424,hmmpanther:PTHR23155,PROSITE_profiles:PS51450	leucine rich repeat containing 40				ENSP00000359990		15/15									COSM2152999	15/15	.		ENST00000370952	Transcript						ENSG00000066557	g.chr1:70611582T>C	26004			LOW								--	--	1																																			1	1			p.L570L	NM_017768	NP_060238			1	LRC40_HUMAN	LRRC40	HGNC	Q9H9A6	LRC40_HUMAN					15	1762	-			UPI000004A0A0	570			LRR 20.		SNV	LRRC40,synonymous_variant,p.=,ENST00000370952,NM_017768.4;LRRC7,intron_variant,,ENST00000609072,;LRRC7,downstream_gene_variant,,ENST00000565615,;LRRC7,downstream_gene_variant,,ENST00000608470,;LRRC7,upstream_gene_variant,,ENST00000441830,;LRRC7,intron_variant,,ENST00000607936,;LRRC7,intron_variant,,ENST00000608744,;LRRC7,intron_variant,,ENST00000588515,;LRRC7,downstream_gene_variant,,ENST00000608815,;LRRC7,downstream_gene_variant,,ENST00000609498,;	uc001der.1	c.1710A>G	1790/2884	3	3			c.1710A>G						1	SNP	c.(1708-1710)TTA>TTG	64	64			ovary(1)	1	Broad	leucine rich repeat containing 40			70611582		0.313	ENSG00000066557	8829	g.chr1:70611582T>C										168.262854	KEEP	24	18	-1	18	17	24	18	-1	168.446689	18	17	0.552632	1	0	0	0	0	0	0	1	0	--	--		0	C				88	GBM-06-2565-TP	p.L570L	T	CATCCAGTAGTAATGTTCTAA	NM_017768	NP_060238	70611582	Q9H9A6	LRC40_HUMAN	0			15	1762	-	C	C			Silent	570			LRR 20.			
LRRC48	0	broad.mit.edu	GRCh37	17	17910458	17910458	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6191-01	TCGA-76-6191-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313838.8:c.1323C>T	p.Arg441=	p.R441=	ENST00000313838	NM_001130090.1	441	cgC/cgT	0			1			T	R	uc010vxd.1	protein_coding	YES	CCDS45622.1			1323/1572									pancreas(1)	1	c.(1321-1323)CGC>CGT			hmmpanther:PTHR10588:SF32,hmmpanther:PTHR10588	leucine rich repeat containing 48 isoform a				ENSP00000326870		13/15										13/15	.		ENST00000313838	Transcript				cytoplasm		ENSG00000171962	g.chr17:17910458C>T	25384			LOW								--	--	1																																		LRRC48_uc002gsa.2_Silent_p.R441R|LRRC48_uc010vxc.1_Silent_p.R441R|LRRC48_uc002gsb.2_Silent_p.R441R		1			p.R441R	NM_001130090	NP_001123562				LRC48_HUMAN	LRRC48	HGNC	Q9H069	LRC48_HUMAN			J3QS14_HUMAN,J3QRH8_HUMAN,J3QRC9_HUMAN,J3KRB8_HUMAN		13	1702	+	all_neural(463;0.228)		UPI000018CE87	441					SNV	LRRC48,synonymous_variant,p.=,ENST00000313838,NM_001130090.1;LRRC48,synonymous_variant,p.=,ENST00000411504,NM_001130091.1;LRRC48,synonymous_variant,p.=,ENST00000399187,NM_031294.3;LRRC48,synonymous_variant,p.=,ENST00000584166,;LRRC48,synonymous_variant,p.=,ENST00000399182,NM_001130092.1;LRRC48,synonymous_variant,p.=,ENST00000579376,;LRRC48,3_prime_UTR_variant,,ENST00000583171,;LRRC48,non_coding_transcript_exon_variant,,ENST00000490517,;LRRC48,non_coding_transcript_exon_variant,,ENST00000470048,;ATPAF2,intron_variant,,ENST00000584205,;LRRC48,downstream_gene_variant,,ENST00000496293,;AC087163.2,upstream_gene_variant,,ENST00000457299,;	uc010vxd.1	c.1323C>T	1702/2151	2	2			c.1323C>T						17	SNP	c.(1321-1323)CGC>CGT	17	17			pancreas(1)	1	Broad	leucine rich repeat containing 48 isoform a			17910458		0.348	ENSG00000171962	8836	g.chr17:17910458C>T		cytoplasm								19.65352	KEEP	3	4	-1	2	4	3	4	-1	20.108029	2	4	0.75	1	0	0	0	0	0	0	1	0	--	--		0	T			LRRC48_uc002gsa.2_Silent_p.R441R|LRRC48_uc010vxc.1_Silent_p.R441R|LRRC48_uc002gsb.2_Silent_p.R441R	274	GBM-76-6191-TP	p.R441R	C	ACGACCTGCGCGCGGTAGGCG	NM_001130090	NP_001123562	17910458	Q9H069	LRC48_HUMAN	0			13	1702	+	T	T	all_neural(463;0.228)		Silent	441						
LRRC4B	94030		GRCh37	19	51021882	51021882	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000599957.1:c.1088C>T	p.Ala363Val	p.A363V	ENST00000599957		363	gCg/gTg	0																																																																																																																																																																																																																																												
LRRC4C	57689	broad.mit.edu	GRCh37	11	40137192	40137192	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0216-01	TCGA-06-0216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278198.2:c.651G>A	p.Pro217=	p.P217=	ENST00000278198		217	ccG/ccA	0	T:0.0002		1			T	P	uc001mxa.1	protein_coding	YES	CCDS31464.1			651/1923									ovary(4)|skin(3)|central_nervous_system(1)	8	c.(649-651)CCG>CCA			PROSITE_profiles:PS51450,hmmpanther:PTHR24369:SF8,hmmpanther:PTHR24369,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	netrin-G1 ligand precursor			T:0	ENSP00000278198		2-Feb	3.29E-05	9.63E-05	0.000173			1.50E-05			rs370666599,COSM187764	2-Feb	.		ENST00000278198	Transcript			regulation of axonogenesis	integral to membrane	protein binding	ENSG00000148948	g.chr11:40137192C>T	29317			LOW								--	--	1																																		LRRC4C_uc001mxc.1_Silent_p.P213P|LRRC4C_uc001mxd.1_Silent_p.P213P|LRRC4C_uc001mxb.1_Silent_p.P213P	0,1	1			p.P217P	NM_020929	NP_065980			0,1	LRC4C_HUMAN	LRRC4C	HGNC	Q9HCJ2	LRC4C_HUMAN			E9PLP4_HUMAN		2	2615	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	UPI000000D9A7	217			LRR 6.		SNV	LRRC4C,synonymous_variant,p.=,ENST00000278198,;LRRC4C,synonymous_variant,p.=,ENST00000527150,;LRRC4C,synonymous_variant,p.=,ENST00000530763,NM_020929.2;LRRC4C,synonymous_variant,p.=,ENST00000528697,NM_001258419.1;LRRC4C,downstream_gene_variant,,ENST00000533474,;	uc001mxa.1	c.651G>A	2615/4054	1	1			c.651G>A						11	SNP	c.(649-651)CCG>CCA	1	1			ovary(4)|skin(3)|central_nervous_system(1)	8	Broad	netrin-G1 ligand precursor			40137192		0.458	ENSG00000148948	8839	g.chr11:40137192C>T	regulation of axonogenesis	integral to membrane	protein binding							71.747881	KEEP	16	13	-1	57	24	16	13	-1	76.632793	57	24	0.273585	1	0	0	0	0	0	0	1	0	--	--		0	T			LRRC4C_uc001mxc.1_Silent_p.P213P|LRRC4C_uc001mxd.1_Silent_p.P213P|LRRC4C_uc001mxb.1_Silent_p.P213P	51	GBM-06-0216-TP	p.P217P	C	GTTTTATGAGCGGTGTGAGGT	NM_020929	NP_065980	40137192	Q9HCJ2	LRC4C_HUMAN	0			2	2615	-	T	T		all_lung(304;0.0575)|Lung NSC(402;0.138)	Silent	217			LRR 6.			
LRRC4C	0	broad.mit.edu	GRCh37	11	40135944	40135944	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-14-0817-01	TCGA-14-0817-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278198.2:c.1899C>A	p.Asp633Glu	p.D633E	ENST00000278198		633	gaC/gaA	0			1			T	D/E	uc001mxa.1	protein_coding	YES	CCDS31464.1			1899/1923									ovary(4)|skin(3)|central_nervous_system(1)	8	c.(1897-1899)GAC>GAA			hmmpanther:PTHR24369:SF8,hmmpanther:PTHR24369	netrin-G1 ligand precursor				ENSP00000278198		2-Feb									COSM2154791	2-Feb	.		ENST00000278198	Transcript			regulation of axonogenesis	integral to membrane	protein binding	ENSG00000148948	g.chr11:40135944G>T	29317			MODERATE		0.4	neutral	getma.org/?cm=msa&ty=f&p=LRC4C_HUMAN&rb=501&re=639&var=D633E	NA	getma.org/?cm=var&var=hg19,11,40135944,G,T&fts=all	D633E	--	--	1																																		LRRC4C_uc001mxc.1_Missense_Mutation_p.D629E|LRRC4C_uc001mxd.1_Missense_Mutation_p.D629E|LRRC4C_uc001mxb.1_Missense_Mutation_p.D629E	1	1		benign(0.027)	p.D633E	NM_020929	NP_065980		tolerated_low_confidence(1)	1	LRC4C_HUMAN	LRRC4C	HGNC	Q9HCJ2	LRC4C_HUMAN			E9PLP4_HUMAN		2	3863	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	UPI000000D9A7	633					SNV	LRRC4C,missense_variant,p.Asp633Glu,ENST00000278198,;LRRC4C,missense_variant,p.Asp633Glu,ENST00000527150,;LRRC4C,missense_variant,p.Asp633Glu,ENST00000530763,NM_020929.2;LRRC4C,missense_variant,p.Asp633Glu,ENST00000528697,NM_001258419.1;LRRC4C,downstream_gene_variant,,ENST00000533474,;	uc001mxa.1	c.1899C>A	3863/4054	1	1			c.1899C>A						11	SNP	c.(1897-1899)GAC>GAA	9	9			ovary(4)|skin(3)|central_nervous_system(1)	8	Broad	netrin-G1 ligand precursor			40135944		0.274	ENSG00000148948	8839	g.chr11:40135944G>T	regulation of axonogenesis	integral to membrane	protein binding							180.300536	KEEP	33	26	0.559322034	26	24	33	26	0.559322034	180.470733	26	24	0.543689	1	0	0	0	0	1	0	0	0	--	--		0	T			LRRC4C_uc001mxc.1_Missense_Mutation_p.D629E|LRRC4C_uc001mxd.1_Missense_Mutation_p.D629E|LRRC4C_uc001mxb.1_Missense_Mutation_p.D629E	139	GBM-14-0817-TP	p.D633E	G	CTTGTACATTGTCTTTAGAGT	NM_020929	NP_065980	40135944	Q9HCJ2	LRC4C_HUMAN	0			2	3863	-	T	T		all_lung(304;0.0575)|Lung NSC(402;0.138)	Missense_Mutation	633						
LRRC4C	57689		GRCh37	11	40136459	40136459	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000278198.2:c.1384A>G	p.Met462Val	p.M462V	ENST00000278198		462	Atg/Gtg	0																																																																																																																																																																																																																																												
LRRC52	440699	broad.mit.edu	GRCh37	1	165532851	165532851	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0174-01	TCGA-06-0174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294818.1:c.732C>A	p.Asp244Glu	p.D244E	ENST00000294818	NM_001005214.3	244	gaC/gaA	0			1			A	D/E	uc001gde.2	protein_coding	YES	CCDS30930.1			732/942									ovary(1)	1	c.(730-732)GAC>GAA			hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF37	leucine rich repeat containing 52 precursor				ENSP00000294818		2-Feb									COSM3399950	2-Feb	.		ENST00000294818	Transcript				integral to membrane		ENSG00000162763	g.chr1:165532851C>A	32156			MODERATE		2.255	medium	getma.org/?cm=msa&ty=f&p=LRC52_HUMAN&rb=174&re=313&var=D244E	NA	getma.org/?cm=var&var=hg19,1,165532851,C,A&fts=all	D244E	--	--	1																																		LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	1	1		probably_damaging(0.999)	p.D244E	NM_001005214	NP_001005214		deleterious(0)	1	LRC52_HUMAN	LRRC52	HGNC	Q8N7C0	LRC52_HUMAN					2	788	+	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		UPI000013E1BE	244			Extracellular (Potential).		SNV	LRRC52,missense_variant,p.Asp244Glu,ENST00000294818,NM_001005214.3;RP11-280O1.2,intron_variant,,ENST00000438275,;RP11-280O1.2,intron_variant,,ENST00000421273,;RP11-280O1.2,intron_variant,,ENST00000416424,;	uc001gde.2	c.732C>A	1022/1369	1	1			c.732C>A						1	SNP	c.(730-732)GAC>GAA	51	51			ovary(1)	1	Broad	leucine rich repeat containing 52 precursor			165532851		0.602	ENSG00000162763	8841	g.chr1:165532851C>A		integral to membrane								98.468543	KEEP	22	23	0.511111111	19	31	22	23	0.511111111	98.582877	19	31	0.457143	1	0	0	0	0	1	0	0	0	--	--		0	A			LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	37	GBM-06-0174-TP	p.D244E	C	ACCACAAAGACTACATCTTCC	NM_001005214	NP_001005214	165532851	Q8N7C0	LRC52_HUMAN	0			2	788	+	A	A	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		Missense_Mutation	244			Extracellular (Potential).			
LRRC55	219527	broad.mit.edu	GRCh37	11	56949722	56949722	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01	TCGA-06-0185-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000497933.1:c.355C>T	p.Arg119Cys	p.R119C	ENST00000497933	NM_001005210.2	119	Cgc/Tgc	0		T:0.0008	1	T:0		T	R/C	uc001njl.1	protein_coding	YES	CCDS31539.1			355/1026										0	c.(355-357)CGC>TGC			Gene3D:3.80.10.10,Pfam_domain:PF13504,PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF99,SMART_domains:SM00369,Superfamily_domains:SSF52058	leucine rich repeat containing 55		T:0		ENSP00000419542	T:0	2-Jan	2.47E-05			0.000116		1.50E-05		6.06E-05	rs575568934,COSM2150525	2-Jan	.		ENST00000497933	Transcript		T:0.0002		integral to membrane		ENSG00000183908	g.chr11:56949722C>T	32324			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=LRC55_HUMAN&rb=80&re=138&var=R89C	getma.org/pdb.php?prot=LRC55_HUMAN&from=80&to=138&var=R89C	getma.org/?cm=var&var=hg19,11,56949722,C,T&fts=all	R89C	--	--	1																																			0,1	1		probably_damaging(0.966)	p.R119C	NM_001005210	NP_001005210	T:0	deleterious(0.02)	0,1	LRC55_HUMAN	LRRC55	HGNC	Q6ZSA7	LRC55_HUMAN					1	502	+			UPI00001C0E6F	89			LRR 1.		SNV	LRRC55,missense_variant,p.Arg119Cys,ENST00000497933,NM_001005210.2;	uc001njl.1	c.355C>T	502/5410	2	2			c.355C>T						11	SNP	c.(355-357)CGC>TGC	47	47				0	Broad	leucine rich repeat containing 55			56949722		0.597	ENSG00000183908	8842	g.chr11:56949722C>T		integral to membrane								72.924307	KEEP	20	14	-1	28	24	20	14	-1	73.943518	28	24	0.371429	1	0	0	0	0	1	0	0	0	--	--		0	T				40	GBM-06-0185-TP	p.R119C	C	GGCCCACAACCGCATCACAGC	NM_001005210	NP_001005210	56949722	Q6ZSA7	LRC55_HUMAN	0			1	502	+	T	T			Missense_Mutation	89			LRR 1.			
LRRC55	219527	broad.mit.edu	GRCh37	11	56950158	56950158	+	splice_donor_variant	Splice_Site	SNP	G	G	A			TCGA-06-0214-01	TCGA-06-0214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000497933.1:c.790+1G>A		p.X264_splice	ENST00000497933	NM_001005210.2	264		0			1			A		uc001njl.1	protein_coding	YES	CCDS31539.1			790/1026										0	c.e1+1				leucine rich repeat containing 55				ENSP00000419542											COSM3397870		.		ENST00000497933	Transcript				integral to membrane		ENSG00000183908	g.chr11:56950158G>A	32324			HIGH	1-Jan							--	--	1																																			1	1			p.D264_splice	NM_001005210	NP_001005210			1	LRC55_HUMAN	LRRC55	HGNC	Q6ZSA7	LRC55_HUMAN					1	937	+			UPI00001C0E6F						SNV	LRRC55,splice_donor_variant,,ENST00000497933,NM_001005210.2;	uc001njl.1	c.790_splice	-/5410	5	2			c.790_splice						11	SNP	c.e1+1	22	22				0	Broad	leucine rich repeat containing 55			56950158		0.587	ENSG00000183908	8842	g.chr11:56950158G>A		integral to membrane								11.848362	KEEP	8	6	-1	57	67	8	6	-1	31.198707	57	67	0.109375	1	0	0	0	0	0	0	0	1	--	--		0	A				50	GBM-06-0214-TP	p.D264_splice	G	TGTACAGCAGGTAATAGAGGG	NM_001005210	NP_001005210	56950158	Q6ZSA7	LRC55_HUMAN	0			1	937	+	A	A			Splice_Site							
LRRC55	219527	broad.mit.edu	GRCh37	11	56950084	56950084	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0216-01	TCGA-06-0216-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000497933.1:c.717T>A	p.Asn239Lys	p.N239K	ENST00000497933	NM_001005210.2	239	aaT/aaA	0			1			A	N/K	uc001njl.1	protein_coding	YES	CCDS31539.1			717/1026										0	c.(715-717)AAT>AAA			Gene3D:3.80.10.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF99,SMART_domains:SM00082,Superfamily_domains:SSF52058	leucine rich repeat containing 55				ENSP00000419542		2-Jan									COSM2150895	2-Jan	.		ENST00000497933	Transcript				integral to membrane		ENSG00000183908	g.chr11:56950084T>A	32324			MODERATE		4.475	high	getma.org/?cm=msa&ty=f&p=LRC55_HUMAN&rb=151&re=210&var=N209K	NA	getma.org/?cm=var&var=hg19,11,56950084,T,A&fts=all	N209K	--	--	1																																			1	1		probably_damaging(0.994)	p.N239K	NM_001005210	NP_001005210		deleterious(0)	1	LRC55_HUMAN	LRRC55	HGNC	Q6ZSA7	LRC55_HUMAN					1	864	+			UPI00001C0E6F	209			LRRCT.		SNV	LRRC55,missense_variant,p.Asn239Lys,ENST00000497933,NM_001005210.2;	uc001njl.1	c.717T>A	864/5410	2	2			c.717T>A						11	SNP	c.(715-717)AAT>AAA	17	17				0	Broad	leucine rich repeat containing 55			56950084		0.632	ENSG00000183908	8842	g.chr11:56950084T>A		integral to membrane								170.036099	KEEP	41	33	-1	52	39	41	33	-1	170.363595	52	39	0.446154	1	0	0	0	0	1	0	0	0	--	--		0	A				51	GBM-06-0216-TP	p.N239K	T	TCGGTGGCAATCCCTGGGTGT	NM_001005210	NP_001005210	56950084	Q6ZSA7	LRC55_HUMAN	0			1	864	+	A	A			Missense_Mutation	209			LRRCT.			
LRRC55	219527	broad.mit.edu	GRCh37	11	56950146	56950146	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0875-01	TCGA-06-0875-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000497933.1:c.779G>A	p.Arg260His	p.R260H	ENST00000497933	NM_001005210.2	260	cGc/cAc	0	A:0		1			A	R/H	uc001njl.1	protein_coding	YES	CCDS31539.1			779/1026										0	c.(778-780)CGC>CAC			Gene3D:3.80.10.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF99,SMART_domains:SM00082	leucine rich repeat containing 55			A:0.0001	ENSP00000419542		2-Jan	6.14E-05					7.90E-05		0.000111	rs201169874,COSM192505	2-Jan	.		ENST00000497933	Transcript				integral to membrane		ENSG00000183908	g.chr11:56950146G>A	32324			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=LRC55_HUMAN&rb=209&re=264&var=R230H	getma.org/pdb.php?prot=LRC55_HUMAN&from=209&to=264&var=R230H	getma.org/?cm=var&var=hg19,11,56950146,G,A&fts=all	R230H	--	--	1																																			0,1	1		benign(0.011)	p.R260H	NM_001005210	NP_001005210		tolerated(0.06)	0,1	LRC55_HUMAN	LRRC55	HGNC	Q6ZSA7	LRC55_HUMAN					1	926	+			UPI00001C0E6F	230			LRRCT.		SNV	LRRC55,missense_variant,p.Arg260His,ENST00000497933,NM_001005210.2;	uc001njl.1	c.779G>A	926/5410	2	2			c.779G>A						11	SNP	c.(778-780)CGC>CAC	19	19				0	Broad	leucine rich repeat containing 55			56950146		0.607	ENSG00000183908	8842	g.chr11:56950146G>A		integral to membrane								202.127329	KEEP	35	39	-1	68	53	35	39	-1	204.544329	68	53	0.380208	1	0	0	0	0	1	0	0	0	--	--		0	A				71	GBM-06-0875-TP	p.R260H	G	CGGATCCAGCGCTGTACAGCA	NM_001005210	NP_001005210	56950146	Q6ZSA7	LRC55_HUMAN	0			1	926	+	A	A			Missense_Mutation	230			LRRCT.			
LRRC55	219527	broad.mit.edu	GRCh37	11	56950136	56950136	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5414-01	TCGA-06-5414-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000497933.1:c.769C>T	p.Arg257Trp	p.R257W	ENST00000497933	NM_001005210.2	257	Cgg/Tgg	0			1			T	R/W	uc001njl.1	protein_coding	YES	CCDS31539.1			769/1026										0	c.(769-771)CGG>TGG			Gene3D:3.80.10.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF99,SMART_domains:SM00082,Superfamily_domains:SSF52058	leucine rich repeat containing 55				ENSP00000419542		2-Jan									rs778274252,COSM3397869	2-Jan	.		ENST00000497933	Transcript				integral to membrane		ENSG00000183908	g.chr11:56950136C>T	32324			MODERATE		1.2	low	getma.org/?cm=msa&ty=f&p=LRC55_HUMAN&rb=209&re=264&var=R227W	getma.org/pdb.php?prot=LRC55_HUMAN&from=209&to=264&var=R227W	getma.org/?cm=var&var=hg19,11,56950136,C,T&fts=all	R227W	2.935	medium	1																																			0,1	1		possibly_damaging(0.903)	p.R257W	NM_001005210	NP_001005210		deleterious(0.01)	0,1	LRC55_HUMAN	LRRC55	HGNC	Q6ZSA7	LRC55_HUMAN					1	916	+			UPI00001C0E6F	227			LRRCT.		SNV	LRRC55,missense_variant,p.Arg257Trp,ENST00000497933,NM_001005210.2;	uc001njl.1	c.769C>T	916/5410	2	2			c.769C>T						11	SNP	c.(769-771)CGG>TGG	26	26				0	Broad	leucine rich repeat containing 55			56950136		0.617	ENSG00000183908	8842	g.chr11:56950136C>T		integral to membrane								107.348357	KEEP	18	23	-1	63	41	18	23	-1	112.21089	63	41	0.298507	1	0	0	0	0	1	0	0	0	2.935	medium		0	T				97	GBM-06-5414-TP	p.R257W	C	GCTGCGAAACCGGATCCAGCG	NM_001005210	NP_001005210	56950136	Q6ZSA7	LRC55_HUMAN	0			1	916	+	T	T			Missense_Mutation	227			LRRCT.			
LRRC55	0	broad.mit.edu	GRCh37	11	56949854	56949854	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-3652-01	TCGA-12-3652-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000497933.1:c.487C>T	p.Leu163=	p.L163=	ENST00000497933	NM_001005210.2	163	Ctg/Ttg	0			1			T	L	uc001njl.1	protein_coding	YES	CCDS31539.1			487/1026										0	c.(487-489)CTG>TTG			Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF99,SMART_domains:SM00369,Superfamily_domains:SSF52058	leucine rich repeat containing 55				ENSP00000419542		2-Jan									COSM3397867	2-Jan	.		ENST00000497933	Transcript				integral to membrane		ENSG00000183908	g.chr11:56949854C>T	32324			LOW								--	--	1																																			1	1			p.L163L	NM_001005210	NP_001005210			1	LRC55_HUMAN	LRRC55	HGNC	Q6ZSA7	LRC55_HUMAN					1	634	+			UPI00001C0E6F	133			LRR 3.		SNV	LRRC55,synonymous_variant,p.=,ENST00000497933,NM_001005210.2;	uc001njl.1	c.487C>T	634/5410	2	2			c.487C>T						11	SNP	c.(487-489)CTG>TTG	24	24				0	Broad	leucine rich repeat containing 55			56949854		0.582	ENSG00000183908	8842	g.chr11:56949854C>T		integral to membrane								40.361699	KEEP	7	6	-1	13	15	7	6	-1	41.580801	13	15	0.317073	1	0	0	0	0	0	0	1	0	--	--		0	T				127	GBM-12-3652-TP	p.L163L	C	ACACTTGGACCTGAGCTACAA	NM_001005210	NP_001005210	56949854	Q6ZSA7	LRC55_HUMAN	0			1	634	+	T	T			Silent	133			LRR 3.			
LRRC55	0	broad.mit.edu	GRCh37	11	56949947	56949947	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01	TCGA-14-1450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000497933.1:c.580C>T	p.Arg194Trp	p.R194W	ENST00000497933	NM_001005210.2	194	Cgg/Tgg	0		T:0	1	T:0		T	R/W	uc001njl.1	protein_coding	YES	CCDS31539.1			580/1026										0	c.(580-582)CGG>TGG			Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF99,SMART_domains:SM00369,Superfamily_domains:SSF52058	leucine rich repeat containing 55		T:0		ENSP00000419542	T:0.001	2-Jan	4.12E-05	9.71E-05		0.000233		1.51E-05		6.32E-05	rs200453430,COSM3397868	2-Jan	.		ENST00000497933	Transcript		T:0.0002		integral to membrane		ENSG00000183908	g.chr11:56949947C>T	32324			MODERATE		1.695	low	getma.org/?cm=msa&ty=f&p=LRC55_HUMAN&rb=151&re=210&var=R164W	NA	getma.org/?cm=var&var=hg19,11,56949947,C,T&fts=all	R164W	--	--	1																																			0,1	1		possibly_damaging(0.736)	p.R194W	NM_001005210	NP_001005210	T:0	deleterious(0.01)	0,1	LRC55_HUMAN	LRRC55	HGNC	Q6ZSA7	LRC55_HUMAN					1	727	+			UPI00001C0E6F	164			LRR 4.		SNV	LRRC55,missense_variant,p.Arg194Trp,ENST00000497933,NM_001005210.2;	uc001njl.1	c.580C>T	727/5410	1	1			c.580C>T						11	SNP	c.(580-582)CGG>TGG	11	11				0	Broad	leucine rich repeat containing 55			56949947		0.617	ENSG00000183908	8842	g.chr11:56949947C>T		integral to membrane								45.345171	KEEP	13	11	-1	27	22	13	11	-1	47.253437	27	22	0.311475	1	0	0	0	0	1	0	0	0	--	--		0	T				145	GBM-14-1450-TP	p.R194W	C	CCCCTGGCTGCGGAGGGTGCA	NM_001005210	NP_001005210	56949947	Q6ZSA7	LRC55_HUMAN	0			1	727	+	T	T			Missense_Mutation	164			LRR 4.			
LRRC56	115399	broad.mit.edu	GRCh37	11	544759	544759	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0129-01	TCGA-06-0129-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000270115.7:c.305G>A	p.Gly102Asp	p.G102D	ENST00000270115	NM_198075.3	102	gGc/gAc	0			1			A	G/D	uc010qvz.1	protein_coding	YES	CCDS7700.1			305/1629									skin(1)	1	c.(304-306)GGC>GAC			Superfamily_domains:SSF52058,Gene3D:3.80.10.10,hmmpanther:PTHR22708:SF0,hmmpanther:PTHR22708,PROSITE_profiles:PS51450	leucine rich repeat containing 56				ENSP00000270115		14-Jun									COSM2149501	14-Jun	.		ENST00000270115	Transcript						ENSG00000161328	g.chr11:544759G>A	25430			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=LRC56_HUMAN&rb=1&re=116&var=G102D	NA	getma.org/?cm=var&var=hg19,11,544759,G,A&fts=all	G102D	--	--	1																																			1	1		benign(0.132)	p.G102D	NM_198075	NP_932341		tolerated(0.1)	1	LRC56_HUMAN	LRRC56	HGNC	Q8IYG6	LRC56_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)			6	810	+		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	UPI000007425F	102			LRR 1.		SNV	LRRC56,missense_variant,p.Gly102Asp,ENST00000270115,NM_198075.3;	uc010qvz.1	c.305G>A	805/2769	2	2			c.305G>A						11	SNP	c.(304-306)GGC>GAC	43	43			skin(1)	1	Broad	leucine rich repeat containing 56			544759		0.701	ENSG00000161328	8843	g.chr11:544759G>A										35.72892	KEEP	6	5	-1	5	3	6	5	-1	36.052676	5	3	0.647059	1	0	0	0	0	1	0	0	0	--	--		0	A				15	GBM-06-0129-TP	p.G102D	G	AAGCTGAACGGCAGCCACCTG	NM_198075	NP_932341	544759	Q8IYG6	LRC56_HUMAN	0		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	6	810	+	A	A		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	Missense_Mutation	102			LRR 1.			
LRRC57	0	broad.mit.edu	GRCh37	15	42836285	42836285	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01	TCGA-76-4926-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323443.2:c.716C>T	p.Ala239Val	p.A239V	ENST00000323443		239	gCg/gTg	0			1			A	A/V	uc001zqd.1	protein_coding	YES	CCDS10089.1			716/720										0	c.(715-717)GCG>GTG				leucine rich repeat containing 57				ENSP00000326817		5-May									COSM3401738	5-May	.		ENST00000323443	Transcript						ENSG00000180979	g.chr15:42836285G>A	26719			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=LRC57_HUMAN&rb=154&re=239&var=A239V	NA	getma.org/?cm=var&var=hg19,15,42836285,G,A&fts=all	A239V	--	--	1																																		LRRC57_uc001zqc.2_Missense_Mutation_p.A239V	1	1		benign(0.296)	p.A239V	NM_153260	NP_694992		tolerated(0.06)	1	LRC57_HUMAN	LRRC57	HGNC	Q8N9N7	LRC57_HUMAN		GBM - Glioblastoma multiforme(94;6.87e-07)	H3BSW0_HUMAN		5	1084	-		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)	UPI000004F8C8	239					SNV	LRRC57,missense_variant,p.Ala239Val,ENST00000323443,;LRRC57,missense_variant,p.Ala239Val,ENST00000563454,;LRRC57,missense_variant,p.Ala239Val,ENST00000397130,NM_153260.2;SNAP23,intron_variant,,ENST00000568841,;SNAP23,intron_variant,,ENST00000563830,;SNAP23,intron_variant,,ENST00000563873,;HAUS2,upstream_gene_variant,,ENST00000260372,NM_018097.2;HAUS2,upstream_gene_variant,,ENST00000568876,NM_001130447.1;HAUS2,upstream_gene_variant,,ENST00000568846,;HAUS2,upstream_gene_variant,,ENST00000562398,;LRRC57,downstream_gene_variant,,ENST00000570160,;LRRC57,non_coding_transcript_exon_variant,,ENST00000569830,;LRRC57,non_coding_transcript_exon_variant,,ENST00000562868,;HAUS2,upstream_gene_variant,,ENST00000391623,;HAUS2,upstream_gene_variant,,ENST00000570178,;HAUS2,upstream_gene_variant,,ENST00000564279,;HAUS2,upstream_gene_variant,,ENST00000567640,;HAUS2,upstream_gene_variant,,ENST00000563479,;	uc001zqd.1	c.716C>T	1084/2649	2	2			c.716C>T						15	SNP	c.(715-717)GCG>GTG	29	29				0	Broad	leucine rich repeat containing 57			42836285		0.408	ENSG00000180979	8844	g.chr15:42836285G>A										187.731112	KEEP	42	58	-1	146	168	42	58	-1	208.765721	146	168	0.24507	1	0	0	0	0	1	0	0	0	--	--		0	A			LRRC57_uc001zqc.2_Missense_Mutation_p.A239V	266	GBM-76-4926-TP	p.A239V	G	AGAACTTCACGCAAACTTCTT	NM_153260	NP_694992	42836285	Q8N9N7	LRC57_HUMAN	0		GBM - Glioblastoma multiforme(94;6.87e-07)	5	1084	-	A	A		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)	Missense_Mutation	239						
LRRC6	23639	broad.mit.edu	GRCh37	8	133584685	133584685	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-2570-01	TCGA-06-2570-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000250173.1:c.1270T>A	p.Ser424Thr	p.S424T	ENST00000250173		424	Tca/Aca	0			1			T	S/T	uc003ytk.2	protein_coding					1270/1401									ovary(1)|kidney(1)	2	c.(1270-1272)TCA>ACA			hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF114	leucine rich repeat containing 6				ENSP00000429791		12-Dec									COSM3412758	12-Dec	.		ENST00000519595	Transcript	1			cytoplasm		ENSG00000129295	g.chr8:133584685A>T	16725			MODERATE		2.255	medium	getma.org/?cm=msa&ty=f&p=TILB_HUMAN&rb=401&re=466&var=S424T	NA	getma.org/?cm=var&var=hg19,8,133584685,A,T&fts=all	S424T	--	--	1																																		LRRC6_uc003ytl.2_RNA	1			benign(0.027)	p.S424T	NM_012472	NP_036604		tolerated(0.15)	1	TILB_HUMAN	LRRC6	HGNC	Q86X45	LRRC6_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)				12	1344	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		UPI000000DBC5	424					SNV	LRRC6,missense_variant,p.Ser424Thr,ENST00000519595,NM_012472.4;LRRC6,missense_variant,p.Ser424Thr,ENST00000250173,;LRRC6,missense_variant,p.Ser164Thr,ENST00000522789,;LRRC6,3_prime_UTR_variant,,ENST00000518642,;LRRC6,non_coding_transcript_exon_variant,,ENST00000522597,;	uc003ytk.2	c.1270T>A	1369/1734	2	2			c.1270T>A						8	SNP	c.(1270-1272)TCA>ACA	41	41			ovary(1)|kidney(1)	2	Broad	leucine rich repeat containing 6			133584685		0.373	ENSG00000129295	8847	g.chr8:133584685A>T		cytoplasm								20.779596	KEEP	17	14	-1	134	153	17	14	-1	65.290397	134	153	0.100358	1	0	0	0	0	1	0	0	0	--	--		0	T			LRRC6_uc003ytl.2_RNA	91	GBM-06-2570-TP	p.S424T	A	TCAGGGAATGAGTGCTTGCTA	NM_012472	NP_036604	133584685	Q86X45	LRRC6_HUMAN	0	BRCA - Breast invasive adenocarcinoma(115;0.000311)		12	1344	-	T	T	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	424						
LRRC6	0	broad.mit.edu	GRCh37	8	133645122	133645122	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5218-01	TCGA-28-5218-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000519595.1:c.517G>A	p.Glu173Lys	p.E173K	ENST00000519595	NM_012472.4	173	Gaa/Aaa	0			1			T	E/K	uc003ytk.2	protein_coding					517/1401									ovary(1)|kidney(1)	2	c.(517-519)GAA>AAA			hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF114	leucine rich repeat containing 6				ENSP00000429791		12-May									COSM3748383	12-May	.		ENST00000519595	Transcript	1			cytoplasm		ENSG00000129295	g.chr8:133645122C>T	16725			MODERATE		2.545	medium	getma.org/?cm=msa&ty=f&p=TILB_HUMAN&rb=1&re=200&var=E173K	NA	getma.org/?cm=var&var=hg19,8,133645122,C,T&fts=all	E173K	--	--	1																																		LRRC6_uc003ytl.2_RNA	1			benign(0.358)	p.E173K	NM_012472	NP_036604		deleterious(0)	1	TILB_HUMAN	LRRC6	HGNC	Q86X45	LRRC6_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)				5	591	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		UPI000000DBC5	173					SNV	LRRC6,missense_variant,p.Glu173Lys,ENST00000519595,NM_012472.4;LRRC6,missense_variant,p.Glu173Lys,ENST00000518642,;LRRC6,missense_variant,p.Glu173Lys,ENST00000250173,;LRRC6,intron_variant,,ENST00000520446,;LRRC6,intron_variant,,ENST00000523503,;	uc003ytk.2	c.517G>A	616/1734	1	1			c.517G>A						8	SNP	c.(517-519)GAA>AAA	7	7			ovary(1)|kidney(1)	2	Broad	leucine rich repeat containing 6			133645122		0.398	ENSG00000129295	8847	g.chr8:133645122C>T		cytoplasm								593.658362	KEEP	109	93	-1	118	115	109	93	-1	593.911191	118	115	0.473171	1	0	0	0	0	1	0	0	0	--	--		0	T			LRRC6_uc003ytl.2_RNA	224	GBM-28-5218-TP	p.E173K	C	TGATCTTTTTCCTGCTCTCTG	NM_012472	NP_036604	133645122	Q86X45	LRRC6_HUMAN	0	BRCA - Breast invasive adenocarcinoma(115;0.000311)		5	591	-	T	T	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	173						
LRRC66	0	broad.mit.edu	GRCh37	4	52862310	52862310	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-4926-01	TCGA-76-4926-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343457.3:c.878G>T	p.Gly293Val	p.G293V	ENST00000343457	NM_001024611.1	293	gGc/gTc	0			1			A	G/V	uc003gzi.2	protein_coding	YES	CCDS43229.1			878/2643									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(877-879)GGC>GTC			hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF55	leucine rich repeat containing 66				ENSP00000341944		4-Apr									COSM3409349	4-Apr	.		ENST00000343457	Transcript				integral to membrane		ENSG00000188993	g.chr4:52862310C>A	34299			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=LRC66_HUMAN&rb=249&re=360&var=G293V	NA	getma.org/?cm=var&var=hg19,4,52862310,C,A&fts=all	G293V	--	--	1																																			1	1		benign(0.035)	p.G293V	NM_001024611	NP_001019782		tolerated(0.17)	1	LRC66_HUMAN	LRRC66	HGNC	Q68CR7	LRC66_HUMAN					4	891	-			UPI0000425C5B	293					SNV	LRRC66,missense_variant,p.Gly293Val,ENST00000343457,NM_001024611.1;	uc003gzi.2	c.878G>T	885/3327	1	1			c.878G>T						4	SNP	c.(877-879)GGC>GTC	60	60			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	leucine rich repeat containing 66			52862310		0.483	ENSG00000188993	8849	g.chr4:52862310C>A		integral to membrane								21.88611	KEEP	10	11	0.523809524	66	87	10	11	0.523809524	41.006709	66	87	0.135135	1	0	0	0	0	1	0	0	0	--	--		0	A				266	GBM-76-4926-TP	p.G293V	C	CTGGGGAGTGCCCCCGTTGGC	NM_001024611	NP_001019782	52862310	Q68CR7	LRC66_HUMAN	0			4	891	-	A	A			Missense_Mutation	293						
LRRC7	57554	broad.mit.edu	GRCh37	1	70503971	70503971	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0154-01	TCGA-06-0154-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000035383.5:c.2350A>G	p.Thr784Ala	p.T784A	ENST00000035383	NM_020794.2	784	Acc/Gcc	0			1			G	T/A	uc001dep.2	protein_coding	YES	CCDS645.1			2350/4614									ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14	c.(2350-2352)ACC>GCC				leucine rich repeat containing 7				ENSP00000035383		19/25									COSM2149947	19/25	.		ENST00000035383	Transcript				centrosome|focal adhesion|nucleolus	protein binding	ENSG00000033122	g.chr1:70503971A>G	18531			MODERATE		-0.69	neutral	getma.org/?cm=msa&ty=f&p=LRRC7_HUMAN&rb=694&re=1212&var=T784A	NA	getma.org/?cm=var&var=hg19,1,70503971,A,G&fts=all	T784A	--	--	1																																		LRRC7_uc009wbg.2_Missense_Mutation_p.T68A|LRRC7_uc001deq.2_Missense_Mutation_p.T25A	1	1		benign(0)	p.T784A	NM_020794	NP_065845		tolerated_low_confidence(0.27)	1	LRRC7_HUMAN	LRRC7	HGNC	Q96NW7	LRRC7_HUMAN					19	2380	+			UPI000006F29B	784					SNV	LRRC7,missense_variant,p.Thr789Ala,ENST00000310961,;LRRC7,missense_variant,p.Thr784Ala,ENST00000035383,NM_020794.2;LRRC7,missense_variant,p.Thr68Ala,ENST00000415775,;	uc001dep.2	c.2350A>G	2380/5000	4	4			c.2350A>G						1	SNP	c.(2350-2352)ACC>GCC	32	32			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14	Broad	leucine rich repeat containing 7			70503971		0.488	ENSG00000033122	8851	g.chr1:70503971A>G		centrosome|focal adhesion|nucleolus	protein binding			783			783	127.564517	KEEP	36	48	-1	96	108	36	48	-1	143.785793	96	108	0.213953	1	0	0	0	0	1	0	0	0	--	--		0	G			LRRC7_uc009wbg.2_Missense_Mutation_p.T68A|LRRC7_uc001deq.2_Missense_Mutation_p.T25A	26	GBM-06-0154-TP	p.T784A	A	TGCTGAGGAAACCACAGCCGA	NM_020794	NP_065845	70503971	Q96NW7	LRRC7_HUMAN	0			19	2380	+	G	G			Missense_Mutation	784						
LRRC7	57554	broad.mit.edu	GRCh37	1	70505050	70505050	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2557-01	TCGA-06-2557-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000035383.5:c.3429C>T	p.Tyr1143=	p.Y1143=	ENST00000035383	NM_020794.2	1143	taC/taT	0			1			T	Y	uc001dep.2	protein_coding	YES	CCDS645.1			3429/4614									ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14	c.(3427-3429)TAC>TAT				leucine rich repeat containing 7				ENSP00000035383		19/25	1.65E-05					3.02E-05			rs765943280,COSM426654	19/25	.		ENST00000035383	Transcript				centrosome|focal adhesion|nucleolus	protein binding	ENSG00000033122	g.chr1:70505050C>T	18531			LOW								--	--	1																																		LRRC7_uc009wbg.2_Silent_p.Y427Y|LRRC7_uc001deq.2_Silent_p.Y384Y	0,1	1			p.Y1143Y	NM_020794	NP_065845			0,1	LRRC7_HUMAN	LRRC7	HGNC	Q96NW7	LRRC7_HUMAN					19	3459	+			UPI000006F29B	1143					SNV	LRRC7,synonymous_variant,p.=,ENST00000310961,;LRRC7,synonymous_variant,p.=,ENST00000035383,NM_020794.2;LRRC7,synonymous_variant,p.=,ENST00000415775,;	uc001dep.2	c.3429C>T	3459/5000	1	1			c.3429C>T						1	SNP	c.(3427-3429)TAC>TAT	4	4			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14	Broad	leucine rich repeat containing 7			70505050		0.557	ENSG00000033122	8851	g.chr1:70505050C>T		centrosome|focal adhesion|nucleolus	protein binding			783			783	5.300997	KEEP	8	11	-1	98	110	8	11	-1	40.00924	98	110	0.08867	1	0	0	0	0	0	0	1	0	--	--		0	T			LRRC7_uc009wbg.2_Silent_p.Y427Y|LRRC7_uc001deq.2_Silent_p.Y384Y	81	GBM-06-2557-TP	p.Y1143Y	C	CTGATAGGTACGGCAGACCCC	NM_020794	NP_065845	70505050	Q96NW7	LRRC7_HUMAN	0			19	3459	+	T	T			Silent	1143						
LRRC7	0	broad.mit.edu	GRCh37	1	70489054	70489054	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-14-0813-01	TCGA-14-0813-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000035383.5:c.1677A>T	p.Arg559Ser	p.R559S	ENST00000035383	NM_020794.2	559	agA/agT	0			1			T	R/S	uc001dep.2	protein_coding	YES	CCDS645.1			1677/4614									ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14	c.(1675-1677)AGA>AGT				leucine rich repeat containing 7				ENSP00000035383		15/25									COSM2154746	15/25	.		ENST00000035383	Transcript				centrosome|focal adhesion|nucleolus	protein binding	ENSG00000033122	g.chr1:70489054A>T	18531			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=LRRC7_HUMAN&rb=508&re=693&var=R559S	NA	getma.org/?cm=var&var=hg19,1,70489054,A,T&fts=all	R559S	1.87	low	1																																		LRRC7_uc009wbg.2_Intron	1	1		benign(0.004)	p.R559S	NM_020794	NP_065845		tolerated(0.6)	1	LRRC7_HUMAN	LRRC7	HGNC	Q96NW7	LRRC7_HUMAN					15	1707	+			UPI000006F29B	559					SNV	LRRC7,missense_variant,p.Arg564Ser,ENST00000310961,;LRRC7,missense_variant,p.Arg559Ser,ENST00000035383,NM_020794.2;LRRC7,intron_variant,,ENST00000415775,;RP11-181B18.1,intron_variant,,ENST00000414132,;RP11-181B18.1,upstream_gene_variant,,ENST00000425754,;	uc001dep.2	c.1677A>T	1707/5000	1	1			c.1677A>T						1	SNP	c.(1675-1677)AGA>AGT	9	9			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14	Broad	leucine rich repeat containing 7			70489054		0.507	ENSG00000033122	8851	g.chr1:70489054A>T		centrosome|focal adhesion|nucleolus	protein binding			783			783	143.180456	KEEP	24	36	-1	60	47	24	36	-1	145.771015	60	47	0.356643	1	0	0	0	0	1	0	0	0	1.87	low		0	T			LRRC7_uc009wbg.2_Intron	138	GBM-14-0813-TP	p.R559S	A	TAAGTGGCAGACAGGTAGGCC	NM_020794	NP_065845	70489054	Q96NW7	LRRC7_HUMAN	0			15	1707	+	T	T			Missense_Mutation	559						
LRRC7	0	broad.mit.edu	GRCh37	1	70504762	70504762	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-19-2623-01	TCGA-19-2623-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000035383.5:c.3141G>C	p.Arg1047Ser	p.R1047S	ENST00000035383	NM_020794.2	1047	agG/agC	0			1			C	R/S	uc001dep.2	protein_coding	YES	CCDS645.1			3141/4614									ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14	c.(3139-3141)AGG>AGC				leucine rich repeat containing 7				ENSP00000035383		19/25									COSM3400987	19/25	.		ENST00000035383	Transcript				centrosome|focal adhesion|nucleolus	protein binding	ENSG00000033122	g.chr1:70504762G>C	18531			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=LRRC7_HUMAN&rb=694&re=1212&var=R1047S	NA	getma.org/?cm=var&var=hg19,1,70504762,G,C&fts=all	R1047S	--	--	1																																		LRRC7_uc009wbg.2_Missense_Mutation_p.R331S|LRRC7_uc001deq.2_Missense_Mutation_p.R288S	1	1		probably_damaging(0.989)	p.R1047S	NM_020794	NP_065845		tolerated(0.1)	1	LRRC7_HUMAN	LRRC7	HGNC	Q96NW7	LRRC7_HUMAN					19	3171	+			UPI000006F29B	1047					SNV	LRRC7,missense_variant,p.Arg1052Ser,ENST00000310961,;LRRC7,missense_variant,p.Arg1047Ser,ENST00000035383,NM_020794.2;LRRC7,missense_variant,p.Arg331Ser,ENST00000415775,;	uc001dep.2	c.3141G>C	3171/5000	3	3			c.3141G>C						1	SNP	c.(3139-3141)AGG>AGC	53	53			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14	Broad	leucine rich repeat containing 7			70504762		0.448	ENSG00000033122	8851	g.chr1:70504762G>C		centrosome|focal adhesion|nucleolus	protein binding			783			783	115.668468	KEEP	16	19	-1	20	25	16	19	-1	115.81432	20	25	0.452055	1	0	0	0	0	1	0	0	0	--	--		0	C			LRRC7_uc009wbg.2_Missense_Mutation_p.R331S|LRRC7_uc001deq.2_Missense_Mutation_p.R288S	163	GBM-19-2623-TP	p.R1047S	G	CCGAAAAGAGGATACCACCCC	NM_020794	NP_065845	70504762	Q96NW7	LRRC7_HUMAN	0			19	3171	+	C	C			Missense_Mutation	1047						
LRRC73	0	broad.mit.edu	GRCh37	6	43475289	43475291	+	inframe_deletion	In_Frame_Del	DEL	TCC	TCC	-			TCGA-28-5207-01	TCGA-28-5207-01	TCC	TCC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372441.1:c.783_785delGGA	p.Glu262del	p.E262del	ENST00000372441	NM_001271882.1	261	gaGGAa/gaa	0	-:0.0026		1			-	EE/E	uc003ovk.1	protein_coding	YES	CCDS34456.1			783-785/951										0	c.(781-786)GAGGAA>GAA			hmmpanther:PTHR25480,hmmpanther:PTHR25480:SF182,Low_complexity_(Seg):seg	hypothetical protein LOC221424			-:0.0064	ENSP00000361518		6-May	0.000264	0.000205	0.000347	0.00058	0.000152	0.000182		0.000304	rs754725896	6-May	common_variant		ENST00000372441	Transcript						ENSG00000204052	g.chr6:43475289_43475291delTCC	21375			MODERATE								--	--	1																																		C6orf154_uc003ovj.1_In_Frame_Del_p.70_71EE>E		1			p.261_262EE>E	NM_001012974	NP_001012992				LRC73_HUMAN	LRRC73	HGNC	Q5JTD7	CF154_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		B3KX61_HUMAN		5	1684_1686	-	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		UPI000015FBAC	261_262			Poly-Glu.		deletion	LRRC73,inframe_deletion,p.Glu262del,ENST00000372441,NM_001271882.1,NM_001012974.2;TJAP1,downstream_gene_variant,,ENST00000454762,;TJAP1,downstream_gene_variant,,ENST00000372444,NM_001146018.1;TJAP1,downstream_gene_variant,,ENST00000372445,NM_001146016.1;TJAP1,downstream_gene_variant,,ENST00000259751,NM_080604.2;TJAP1,downstream_gene_variant,,ENST00000438588,NM_001146017.1;TJAP1,downstream_gene_variant,,ENST00000372449,;TJAP1,downstream_gene_variant,,ENST00000372452,NM_001146019.1;TJAP1,downstream_gene_variant,,ENST00000436109,NM_001146020.1;YIPF3,downstream_gene_variant,,ENST00000372422,NM_015388.3;YIPF3,downstream_gene_variant,,ENST00000506469,;YIPF3,downstream_gene_variant,,ENST00000503972,;TJAP1,downstream_gene_variant,,ENST00000442878,;POLR1C,upstream_gene_variant,,ENST00000428025,;TJAP1,downstream_gene_variant,,ENST00000483640,;TJAP1,downstream_gene_variant,,ENST00000490050,;TJAP1,downstream_gene_variant,,ENST00000478173,;TJAP1,downstream_gene_variant,,ENST00000459851,;YIPF3,downstream_gene_variant,,ENST00000460547,;YIPF3,downstream_gene_variant,,ENST00000510102,;YIPF3,downstream_gene_variant,,ENST00000490447,;YIPF3,downstream_gene_variant,,ENST00000514627,;YIPF3,downstream_gene_variant,,ENST00000503147,;YIPF3,downstream_gene_variant,,ENST00000512713,;	uc003ovk.1	c.783_785delGGA	1684-1686/2121	5	5			c.783_785delGGA						6	DEL	c.(781-786)GAGGAA>GAA	13	13				0	Broad	hypothetical protein LOC221424			43475291		0.631	ENSG00000204052	2291	g.chr6:43475289_43475291delTCC																							0.01	1	1	0	1	0	0	0	0	0	--	--		0	-			C6orf154_uc003ovj.1_In_Frame_Del_p.70_71EE>E	216	GBM-28-5207-TP	p.261_262EE>E	TCC	TCCTGCCACTTCCTCCTCCTCCT	NM_001012974	NP_001012992	43475289	Q5JTD7	CF154_HUMAN	0	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		5	1684_1686	-	-	-	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		In_Frame_Del	261_262			Poly-Glu.			
LRRC8A	0	broad.mit.edu	GRCh37	9	131669841	131669841	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5952-01	TCGA-19-5952-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259324.5:c.398C>T	p.Thr133Met	p.T133M	ENST00000259324	NM_001127244.1	133	aCg/aTg	0			1			T	T/M	uc004bwl.3	protein_coding	YES	CCDS35155.1			398/2433										0	c.(397-399)ACG>ATG			Transmembrane_helices:TMhelix,hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF39,Pfam_domain:PF12534	leucine rich repeat containing 8 family, member				ENSP00000259324		4-Mar	8.24E-06			0.000116					rs779726996,COSM3327812	4-Mar	.		ENST00000259324	Transcript	1		pre-B cell differentiation	integral to membrane		ENSG00000136802	g.chr9:131669841C>T	19027			MODERATE		1.665	low	getma.org/?cm=msa&ty=f&p=LRC8A_HUMAN&rb=97&re=156&var=T133M	NA	getma.org/?cm=var&var=hg19,9,131669841,C,T&fts=all	T133M	--	--	1																																		LRRC8A_uc010myp.2_Missense_Mutation_p.T133M|LRRC8A_uc010myq.2_Missense_Mutation_p.T133M	0,1	1		probably_damaging(0.998)	p.T133M	NM_019594	NP_062540		deleterious(0)	0,1	LRC8A_HUMAN	LRRC8A	HGNC	Q8IWT6	LRC8A_HUMAN			Q96SW8_HUMAN		3	652	+			UPI000004EF9E	133			Helical; (Potential).		SNV	LRRC8A,missense_variant,p.Thr133Met,ENST00000259324,NM_001127244.1;LRRC8A,missense_variant,p.Thr133Met,ENST00000372600,NM_019594.3;LRRC8A,missense_variant,p.Thr133Met,ENST00000372599,NM_001127245.1;	uc004bwl.3	c.398C>T	921/4619	1	1			c.398C>T						9	SNP	c.(397-399)ACG>ATG	7	7				0	Broad	leucine rich repeat containing 8 family, member			131669841		0.557	ENSG00000136802	8852	g.chr9:131669841C>T	pre-B cell differentiation	integral to membrane								34.206341	KEEP	6	12	-1	32	50	6	12	-1	42.530286	32	50	0.181818	1	0	0	0	0	1	0	0	0	--	--		0	T			LRRC8A_uc010myp.2_Missense_Mutation_p.T133M|LRRC8A_uc010myq.2_Missense_Mutation_p.T133M	172	GBM-19-5952-TP	p.T133M	C	CTTCTGCACACGCTCATCTTC	NM_019594	NP_062540	131669841	Q8IWT6	LRC8A_HUMAN	0			3	652	+	T	T			Missense_Mutation	133			Helical; (Potential).			
LRRC8B	0	broad.mit.edu	GRCh37	1	90048973	90048973	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-2620-01	TCGA-19-2620-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330947.2:c.764A>G	p.Tyr255Cys	p.Y255C	ENST00000330947	NM_001134476.1	255	tAt/tGt	0			1			G	Y/C	uc001dni.2	protein_coding	YES	CCDS724.1			764/2412									ovary(2)	2	c.(763-765)TAT>TGT			hmmpanther:PTHR23155:SF465,hmmpanther:PTHR23155	leucine rich repeat containing 8 family, member				ENSP00000332674		6-May									COSM3401074	6-May	.		ENST00000330947	Transcript				integral to membrane		ENSG00000197147	g.chr1:90048973A>G	30692			MODERATE		2.275	medium	getma.org/?cm=msa&ty=f&p=LRC8B_HUMAN&rb=153&re=352&var=Y255C	NA	getma.org/?cm=var&var=hg19,1,90048973,A,G&fts=all	Y255C	--	--	1																																		LRRC8B_uc001dnh.2_Missense_Mutation_p.Y255C|LRRC8B_uc001dnj.2_Missense_Mutation_p.Y255C	1	1		probably_damaging(0.994)	p.Y255C	NM_001134476	NP_001127948		deleterious(0)	1	LRC8B_HUMAN	LRRC8B	HGNC	Q6P9F7	LRC8B_HUMAN		all cancers(265;0.00515)|Epithelial(280;0.0241)	Q49AH5_HUMAN,C9JGJ7_HUMAN		7	1271	+		all_lung(203;0.17)	UPI00000739FF	255					SNV	LRRC8B,missense_variant,p.Tyr255Cys,ENST00000330947,NM_001134476.1;LRRC8B,missense_variant,p.Tyr255Cys,ENST00000439853,NM_015350.2;LRRC8B,missense_variant,p.Tyr255Cys,ENST00000358200,;LRRC8B,downstream_gene_variant,,ENST00000449440,;RP5-1007M22.2,non_coding_transcript_exon_variant,,ENST00000443562,;	uc001dni.2	c.764A>G	1124/7593	3	3			c.764A>G						1	SNP	c.(763-765)TAT>TGT	13	13			ovary(2)	2	Broad	leucine rich repeat containing 8 family, member			90048973		0.383	ENSG00000197147	8853	g.chr1:90048973A>G		integral to membrane								161.811104	KEEP	27	24	-1	43	42	27	24	-1	163.397178	43	42	0.379032	1	0	0	0	0	1	0	0	0	--	--		0	G			LRRC8B_uc001dnh.2_Missense_Mutation_p.Y255C|LRRC8B_uc001dnj.2_Missense_Mutation_p.Y255C	162	GBM-19-2620-TP	p.Y255C	A	GACATCATTTATAGAGTATAT	NM_001134476	NP_001127948	90048973	Q6P9F7	LRC8B_HUMAN	0		all cancers(265;0.00515)|Epithelial(280;0.0241)	7	1271	+	G	G		all_lung(203;0.17)	Missense_Mutation	255						
LRRC8C	0	broad.mit.edu	GRCh37	1	90179098	90179098	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-32-2495-01	TCGA-32-2495-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370454.4:c.969T>C	p.Tyr323=	p.Y323=	ENST00000370454	NM_032270.4	323	taT/taC	0			1			C	Y	uc001dnl.3	protein_coding	YES	CCDS725.1			969/2412									ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8	c.(967-969)TAT>TAC			Transmembrane_helices:TMhelix,hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF415	leucine rich repeat containing 8 family, member				ENSP00000359483		3-Mar									COSM3401076	3-Mar	.		ENST00000370454	Transcript				endoplasmic reticulum membrane|integral to membrane		ENSG00000171488	g.chr1:90179098T>C	25075			LOW								--	--	1																																			1	1			p.Y323Y	NM_032270	NP_115646			1	LRC8C_HUMAN	LRRC8C	HGNC	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)			3	1211	+		all_lung(203;0.126)	UPI000013E814	323			Helical; (Potential).		SNV	LRRC8C,synonymous_variant,p.=,ENST00000370454,NM_032270.4;LRRC8C,intron_variant,,ENST00000479252,;RP11-302M6.4,intron_variant,,ENST00000370453,;LRRC8C,downstream_gene_variant,,ENST00000482063,;	uc001dnl.3	c.969T>C	1224/7218	3	3			c.969T>C						1	SNP	c.(967-969)TAT>TAC	15	15			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8	Broad	leucine rich repeat containing 8 family, member			90179098		0.408	ENSG00000171488	8854	g.chr1:90179098T>C		endoplasmic reticulum membrane|integral to membrane								-42.318271	KEEP	0	6	-1	95	131	0	6	-1	12.365004	95	131	0.023148	1	0	0	0	0	0	0	1	0	--	--		0	C				237	GBM-32-2495-TP	p.Y323Y	T	CCTTTTGCTATCTGTGCTTTG	NM_032270	NP_115646	90179098	Q8TDW0	LRC8C_HUMAN	0		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	1211	+	C	C		all_lung(203;0.126)	Silent	323			Helical; (Potential).			
LRRC8D	55144	broad.mit.edu	GRCh37	1	90400304	90400304	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-06-6391-01	TCGA-06-6391-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337338.5:c.1677C>G	p.Leu559=	p.L559=	ENST00000337338	NM_001134479.1	559	ctC/ctG	0			1			G	L	uc001dnm.2	protein_coding	YES	CCDS726.1			1677/2577									ovary(2)	2	c.(1675-1677)CTC>CTG			Gene3D:3.80.10.10,hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF39,Superfamily_domains:SSF52058	leucine rich repeat containing 8 family, member				ENSP00000338887		3-Mar										3-Mar	.		ENST00000337338	Transcript				integral to membrane	protein binding	ENSG00000171492	g.chr1:90400304C>G	16992			LOW								--	--	1																																		LRRC8D_uc001dnn.2_Silent_p.L559L		1			p.L559L	NM_001134479	NP_001127951				LRC8D_HUMAN	LRRC8D	HGNC	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	Q659A9_HUMAN,Q658W7_HUMAN,Q5VWA0_HUMAN,E9PMF9_HUMAN,E9PL08_HUMAN,E9PJS7_HUMAN,E9PJ89_HUMAN		3	2102	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	UPI00001BBFBA	559			LRR 2.		SNV	LRRC8D,synonymous_variant,p.=,ENST00000337338,NM_001134479.1;LRRC8D,synonymous_variant,p.=,ENST00000394593,NM_018103.4;LRRC8D,downstream_gene_variant,,ENST00000527156,;LRRC8D,downstream_gene_variant,,ENST00000441269,;LRRC8D,downstream_gene_variant,,ENST00000414841,;LRRC8D,downstream_gene_variant,,ENST00000532201,;LRRC8D,downstream_gene_variant,,ENST00000525774,;RP11-302M6.5,upstream_gene_variant,,ENST00000608671,;RP11-302M6.4,downstream_gene_variant,,ENST00000370453,;	uc001dnm.2	c.1677C>G	2084/3950	3	3			c.1677C>G						1	SNP	c.(1675-1677)CTC>CTG	16	16			ovary(2)	2	Broad	leucine rich repeat containing 8 family, member			90400304		0.418	ENSG00000171492	8855	g.chr1:90400304C>G		integral to membrane	protein binding							49.4579	KEEP	14	6	-1	42	56	14	6	-1	60.366061	42	56	0.174312	1	0	0	0	0	0	0	1	0	--	--		0	G			LRRC8D_uc001dnn.2_Silent_p.L559L	107	GBM-06-6391-TP	p.L559L	C	TGTATTTGCTCAAAAACCTTC	NM_001134479	NP_001127951	90400304	Q7L1W4	LRC8D_HUMAN	0		all cancers(265;0.0109)|Epithelial(280;0.0427)	3	2102	+	G	G		all_lung(203;0.0894)|Lung NSC(277;0.227)	Silent	559			LRR 2.			
LRRC8E	0	broad.mit.edu	GRCh37	19	7964176	7964176	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-28-2514-01	TCGA-28-2514-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306708.6:c.769C>T	p.Arg257Ter	p.R257*	ENST00000306708	NM_025061.4	257	Cga/Tga	0			1			T	R/*	uc002mir.2	protein_coding	YES	CCDS12189.1			769/2391									lung(1)|pancreas(1)	2	c.(769-771)CGA>TGA			hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF250	leucine rich repeat containing 8 family, member				ENSP00000306524		3-Mar	3.29E-05					4.50E-05		6.06E-05	rs764883772,COSM3404791	3-Mar	.		ENST00000306708	Transcript				integral to membrane		ENSG00000171017	g.chr19:7964176C>T	26272			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,19,7964176,C,T&fts=all	R257*	--	--	1																																			0,1	1			p.R257*	NM_025061	NP_079337			0,1	LRC8E_HUMAN	LRRC8E	HGNC	Q6NSJ5	LRC8E_HUMAN			M0R3C1_HUMAN,M0R2K8_HUMAN,M0R2D8_HUMAN,M0QZ48_HUMAN		3	870	+			UPI0000201F4F	257					SNV	LRRC8E,stop_gained,p.Arg257Ter,ENST00000306708,NM_025061.4,NM_001268285.1,NM_001268284.1;AC010336.1,3_prime_UTR_variant,,ENST00000539278,;MAP2K7,upstream_gene_variant,,ENST00000545011,;MAP2K7,upstream_gene_variant,,ENST00000397981,;MAP2K7,upstream_gene_variant,,ENST00000397983,;MAP2K7,upstream_gene_variant,,ENST00000397979,NM_145185.2;LRRC8E,downstream_gene_variant,,ENST00000599367,;LRRC8E,downstream_gene_variant,,ENST00000598224,;LRRC8E,downstream_gene_variant,,ENST00000593511,;LRRC8E,downstream_gene_variant,,ENST00000600345,;RN7SL115P,downstream_gene_variant,,ENST00000392196,;MAP2K7,upstream_gene_variant,,ENST00000468058,;MAP2K7,upstream_gene_variant,,ENST00000475022,;	uc002mir.2	c.769C>T	870/3595	5	2			c.769C>T						19	SNP	c.(769-771)CGA>TGA	37	37			lung(1)|pancreas(1)	2	Broad	leucine rich repeat containing 8 family, member			7964176		0.532	ENSG00000171017	8856	g.chr19:7964176C>T		integral to membrane								121.067767	KEEP	21	23	-1	51	35	21	23	-1	123.953588	51	35	0.336066	1	0	0	0	0	0	1	0	0	--	--		0	T				214	GBM-28-2514-TP	p.R257*	C	CATGTACATCCGACAGACGGT	NM_025061	NP_079337	7964176	Q6NSJ5	LRC8E_HUMAN	0			3	870	+	T	T			Nonsense_Mutation	257						
LRRC8E	0	broad.mit.edu	GRCh37	19	7965735	7965735	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-32-2638-01	TCGA-32-2638-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306708.6:c.2328G>T	p.Leu776=	p.L776=	ENST00000306708	NM_025061.4	776	ctG/ctT	0			1			T	L	uc002mir.2	protein_coding	YES	CCDS12189.1			2328/2391									lung(1)|pancreas(1)	2	c.(2326-2328)CTG>CTT			hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF250	leucine rich repeat containing 8 family, member				ENSP00000306524		3-Mar									COSM3404792	3-Mar	.		ENST00000306708	Transcript				integral to membrane		ENSG00000171017	g.chr19:7965735G>T	26272			LOW								--	--	1																																			1	1			p.L776L	NM_025061	NP_079337			1	LRC8E_HUMAN	LRRC8E	HGNC	Q6NSJ5	LRC8E_HUMAN			M0R3C1_HUMAN,M0R2K8_HUMAN,M0R2D8_HUMAN,M0QZ48_HUMAN		3	2429	+			UPI0000201F4F	776					SNV	LRRC8E,synonymous_variant,p.=,ENST00000306708,NM_025061.4,NM_001268285.1,NM_001268284.1;AC010336.1,5_prime_UTR_variant,,ENST00000539278,;MAP2K7,upstream_gene_variant,,ENST00000545011,;MAP2K7,upstream_gene_variant,,ENST00000397981,;MAP2K7,upstream_gene_variant,,ENST00000397983,;MAP2K7,upstream_gene_variant,,ENST00000397979,NM_145185.2;LRRC8E,downstream_gene_variant,,ENST00000599367,;LRRC8E,downstream_gene_variant,,ENST00000598224,;LRRC8E,downstream_gene_variant,,ENST00000593511,;LRRC8E,downstream_gene_variant,,ENST00000600345,;RN7SL115P,downstream_gene_variant,,ENST00000392196,;MAP2K7,upstream_gene_variant,,ENST00000468058,;MAP2K7,upstream_gene_variant,,ENST00000475022,;	uc002mir.2	c.2328G>T	2429/3595	2	2			c.2328G>T						19	SNP	c.(2326-2328)CTG>CTT	33	33			lung(1)|pancreas(1)	2	Broad	leucine rich repeat containing 8 family, member			7965735		0.597	ENSG00000171017	8856	g.chr19:7965735G>T		integral to membrane								99.546685	KEEP	17	20	0.459459459	51	38	17	20	0.459459459	103.131244	51	38	0.313043	1	0	0	0	0	0	0	1	0	--	--		0	T				242	GBM-32-2638-TP	p.L776L	G	CGGGGCTCCTGGTGGAAGACA	NM_025061	NP_079337	7965735	Q6NSJ5	LRC8E_HUMAN	0			3	2429	+	T	T			Silent	776						
LRRCC1	0	broad.mit.edu	GRCh37	8	86047170	86047170	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-2575-01	TCGA-41-2575-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360375.3:c.2057C>T	p.Ser686Phe	p.S686F	ENST00000360375	NM_033402.4	686	tCc/tTc	0			1			T	S/F	uc003ycw.2	protein_coding	YES	CCDS43750.1			2057/3099										0	c.(2056-2058)TCC>TTC			hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF31	sodium channel associated protein 2 isoform a				ENSP00000353538		13/19									COSM3413144,COSM3413145	13/19	.		ENST00000360375	Transcript			cell division|mitosis	centriole|nucleus		ENSG00000133739	g.chr8:86047170C>T	29373			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=LRCC1_HUMAN&rb=530&re=729&var=S686F	NA	getma.org/?cm=var&var=hg19,8,86047170,C,T&fts=all	S686F	--	--	1																																		LRRCC1_uc010maa.1_Missense_Mutation_p.S387F|LRRCC1_uc003ycx.2_Missense_Mutation_p.S593F|LRRCC1_uc003ycy.2_Missense_Mutation_p.S666F	1,1	1		possibly_damaging(0.862)	p.S686F	NM_033402	NP_208325		deleterious(0.01)	1,1	LRCC1_HUMAN	LRRCC1	HGNC	Q9C099	LRCC1_HUMAN					13	2211	+			UPI000021002F	686					SNV	LRRCC1,missense_variant,p.Ser666Phe,ENST00000414626,;LRRCC1,missense_variant,p.Ser686Phe,ENST00000360375,NM_033402.4;LRRCC1,3_prime_UTR_variant,,ENST00000522770,;LRRCC1,3_prime_UTR_variant,,ENST00000517875,;LRRCC1,3_prime_UTR_variant,,ENST00000522567,;LRRCC1,downstream_gene_variant,,ENST00000523669,;	uc003ycw.2	c.2057C>T	2206/3813	1	1			c.2057C>T						8	SNP	c.(2056-2058)TCC>TTC	12	12				0	Broad	sodium channel associated protein 2 isoform a			86047170		0.333	ENSG00000133739	8857	g.chr8:86047170C>T	cell division|mitosis	centriole|nucleus								200.229549	KEEP	36	31	-1	30	39	36	31	-1	200.23136	30	39	0.504	1	0	0	0	0	1	0	0	0	--	--		0	T			LRRCC1_uc010maa.1_Missense_Mutation_p.S387F|LRRCC1_uc003ycx.2_Missense_Mutation_p.S593F|LRRCC1_uc003ycy.2_Missense_Mutation_p.S666F	253	GBM-41-2575-TP	p.S686F	C	AATGAGTCTTCCTCTTTAATT	NM_033402	NP_208325	86047170	Q9C099	LRCC1_HUMAN	0			13	2211	+	T	T			Missense_Mutation	686						
LRRIQ1	84125	broad.mit.edu	GRCh37	12	85492269	85492269	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2564-01	TCGA-06-2564-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393217.2:c.3024C>T	p.Gly1008=	p.G1008=	ENST00000393217	NM_001079910.1	1008	ggC/ggT	0			1			T	G	uc001tac.2	protein_coding	YES	CCDS41816.1			3024/5169									ovary(4)|central_nervous_system(1)|skin(1)	6	c.(3022-3024)GGC>GGT			Superfamily_domains:SSF52058,Gene3D:3.80.10.10,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF66,PROSITE_profiles:PS51450	leucine-rich repeats and IQ motif containing 1				ENSP00000376910		27-Dec	8.24E-06					1.50E-05			rs758936698,COSM944081,COSM944080	27-Dec	.		ENST00000393217	Transcript						ENSG00000133640	g.chr12:85492269C>T	25708			LOW								--	--	1																																		LRRIQ1_uc001tab.1_Silent_p.G1008G	0,1,1	1			p.G1008G	NM_001079910	NP_001073379			0,1,1	LRIQ1_HUMAN	LRRIQ1	HGNC	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	A8MY60_HUMAN		12	3135	+			UPI0000ED4E82	1008			LRR 6.		SNV	LRRIQ1,synonymous_variant,p.=,ENST00000393217,NM_001079910.1;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000525971,;	uc001tac.2	c.3024C>T	3085/5394	2	2			c.3024C>T						12	SNP	c.(3022-3024)GGC>GGT	18	18			ovary(4)|central_nervous_system(1)|skin(1)	6	Broad	leucine-rich repeats and IQ motif containing 1			85492269		0.343	ENSG00000133640	8860	g.chr12:85492269C>T										89.47222	KEEP	21	19	-1	23	43	21	19	-1	90.913436	23	43	0.363636	1	0	0	0	0	0	0	1	0	--	--		0	T			LRRIQ1_uc001tab.1_Silent_p.G1008G	87	GBM-06-2564-TP	p.G1008G	C	ATGTAGAGGGCGTTGAAAATT	NM_001079910	NP_001073379	85492269	Q96JM4	LRIQ1_HUMAN	0		GBM - Glioblastoma multiforme(134;0.212)	12	3135	+	T	T			Silent	1008			LRR 6.			
LRRIQ1	84125	broad.mit.edu	GRCh37	12	85546073	85546073	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-06-2564-01	TCGA-06-2564-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393217.2:c.4345del	p.Glu1449AsnfsTer3	p.E1449Nfs*3	ENST00000393217	NM_001079910.1	1449	Gaa/aa	0			1			-	E/X	uc001tac.2	protein_coding	YES	CCDS41816.1			4345/5169									ovary(4)|central_nervous_system(1)|skin(1)	6	c.(4345-4347)GAAfs			Low_complexity_(Seg):seg	leucine-rich repeats and IQ motif containing 1				ENSP00000376910		20/27									COSM2152950	20/27	.		ENST00000393217	Transcript						ENSG00000133640	g.chr12:85546073delG	25708			HIGH								--	--	1																																			1	1			p.E1449fs	NM_001079910	NP_001073379			1	LRIQ1_HUMAN	LRRIQ1	HGNC	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	A8MY60_HUMAN		20	4456	+			UPI0000ED4E82	1449					deletion	LRRIQ1,frameshift_variant,p.Glu1449AsnfsTer3,ENST00000393217,NM_001079910.1;	uc001tac.2	c.4345delG	4406/5394	5	5			c.4345delG						12	DEL	c.(4345-4347)GAAfs	4	4			ovary(4)|central_nervous_system(1)|skin(1)	6	Broad	leucine-rich repeats and IQ motif containing 1			85546073		0.353	ENSG00000133640	8860	g.chr12:85546073delG																							0.31	1	1	0	1	0	0	0	0	0	--	--		0	-				87	GBM-06-2564-TP	p.E1449fs	G	CTTAGAAGAAGAATGGCTAGC	NM_001079910	NP_001073379	85546073	Q96JM4	LRIQ1_HUMAN	0		GBM - Glioblastoma multiforme(134;0.212)	20	4456	+	-	-			Frame_Shift_Del	1449						
LRRIQ1	84125	broad.mit.edu	GRCh37	12	85450521	85450521	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-5417-01	TCGA-06-5417-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393217.2:c.1950T>C	p.Ala650=	p.A650=	ENST00000393217	NM_001079910.1	650	gcT/gcC	0			1			C	A	uc001tac.2	protein_coding	YES	CCDS41816.1			1950/5169									ovary(4)|central_nervous_system(1)|skin(1)	6	c.(1948-1950)GCT>GCC				leucine-rich repeats and IQ motif containing 1				ENSP00000376910		27-Aug									COSM2153265,COSM2153264	27-Aug	.		ENST00000393217	Transcript						ENSG00000133640	g.chr12:85450521T>C	25708			LOW								--	--	1																																		LRRIQ1_uc001tab.1_Silent_p.A650A|LRRIQ1_uc001taa.1_Silent_p.A625A	1,1	1			p.A650A	NM_001079910	NP_001073379			1,1	LRIQ1_HUMAN	LRRIQ1	HGNC	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	A8MY60_HUMAN		8	2061	+			UPI0000ED4E82	650					SNV	LRRIQ1,synonymous_variant,p.=,ENST00000393217,NM_001079910.1;LRRIQ1,downstream_gene_variant,,ENST00000533414,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000525971,;	uc001tac.2	c.1950T>C	2011/5394	3	3			c.1950T>C						12	SNP	c.(1948-1950)GCT>GCC	61	61			ovary(4)|central_nervous_system(1)|skin(1)	6	Broad	leucine-rich repeats and IQ motif containing 1			85450521		0.313	ENSG00000133640	8860	g.chr12:85450521T>C										79.0686	KEEP	12	13	-1	26	33	12	13	-1	82.074233	26	33	0.296296	1	0	0	0	0	0	0	1	0	--	--		0	C			LRRIQ1_uc001tab.1_Silent_p.A650A|LRRIQ1_uc001taa.1_Silent_p.A625A	99	GBM-06-5417-TP	p.A650A	T	AAGACAATGCTTGGAATAGTG	NM_001079910	NP_001073379	85450521	Q96JM4	LRIQ1_HUMAN	0		GBM - Glioblastoma multiforme(134;0.212)	8	2061	+	C	C			Silent	650						
LRRIQ1	0	broad.mit.edu	GRCh37	12	85450302	85450302	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-12-0821-01	TCGA-12-0821-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393217.2:c.1731T>C	p.Asp577=	p.D577=	ENST00000393217	NM_001079910.1	577	gaT/gaC	0			1			C	D	uc001tac.2	protein_coding	YES	CCDS41816.1			1731/5169									ovary(4)|central_nervous_system(1)|skin(1)	6	c.(1729-1731)GAT>GAC			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	leucine-rich repeats and IQ motif containing 1				ENSP00000376910		27-Aug									COSM3399147,COSM3399146	27-Aug	.		ENST00000393217	Transcript						ENSG00000133640	g.chr12:85450302T>C	25708			LOW								--	--	1																																		LRRIQ1_uc001tab.1_Silent_p.D577D|LRRIQ1_uc001taa.1_Silent_p.D552D	1,1	1			p.D577D	NM_001079910	NP_001073379			1,1	LRIQ1_HUMAN	LRRIQ1	HGNC	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	A8MY60_HUMAN		8	1842	+			UPI0000ED4E82	577					SNV	LRRIQ1,synonymous_variant,p.=,ENST00000393217,NM_001079910.1;LRRIQ1,downstream_gene_variant,,ENST00000533414,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000525971,;	uc001tac.2	c.1731T>C	1792/5394	3	3			c.1731T>C						12	SNP	c.(1729-1731)GAT>GAC	4	4			ovary(4)|central_nervous_system(1)|skin(1)	6	Broad	leucine-rich repeats and IQ motif containing 1			85450302		0.289	ENSG00000133640	8860	g.chr12:85450302T>C										109.566933	KEEP	25	13	-1	38	16	25	13	-1	110.100086	38	16	0.4125	1	0	0	0	0	0	0	1	0	--	--		0	C			LRRIQ1_uc001tab.1_Silent_p.D577D|LRRIQ1_uc001taa.1_Silent_p.D552D	123	GBM-12-0821-TP	p.D577D	T	TAATCAAAGATAATCAGCAGA	NM_001079910	NP_001073379	85450302	Q96JM4	LRIQ1_HUMAN	0		GBM - Glioblastoma multiforme(134;0.212)	8	1842	+	C	C			Silent	577						
LRRIQ1	0	broad.mit.edu	GRCh37	12	85450952	85450952	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-41-4097-01	TCGA-41-4097-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393217.2:c.2381C>G	p.Thr794Ser	p.T794S	ENST00000393217	NM_001079910.1	794	aCt/aGt	0			1			G	T/S	uc001tac.2	protein_coding	YES	CCDS41816.1			2381/5169									ovary(4)|central_nervous_system(1)|skin(1)	6	c.(2380-2382)ACT>AGT			Superfamily_domains:SSF52058,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF66	leucine-rich repeats and IQ motif containing 1				ENSP00000376910		27-Aug									COSM3399149,COSM3399148	27-Aug	.		ENST00000393217	Transcript						ENSG00000133640	g.chr12:85450952C>G	25708			MODERATE		0.335	neutral	getma.org/?cm=msa&ty=f&p=LRIQ1_HUMAN&rb=700&re=899&var=T794S	NA	getma.org/?cm=var&var=hg19,12,85450952,C,G&fts=all	T794S	--	--	1																																		LRRIQ1_uc001tab.1_Missense_Mutation_p.T794S|LRRIQ1_uc001taa.1_Missense_Mutation_p.T769S	1,1	1		benign(0.156)	p.T794S	NM_001079910	NP_001073379		deleterious(0.04)	1,1	LRIQ1_HUMAN	LRRIQ1	HGNC	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	A8MY60_HUMAN		8	2492	+			UPI0000ED4E82	794					SNV	LRRIQ1,missense_variant,p.Thr794Ser,ENST00000393217,NM_001079910.1;LRRIQ1,downstream_gene_variant,,ENST00000533414,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000525971,;	uc001tac.2	c.2381C>G	2442/5394	4	4			c.2381C>G						12	SNP	c.(2380-2382)ACT>AGT	24	24			ovary(4)|central_nervous_system(1)|skin(1)	6	Broad	leucine-rich repeats and IQ motif containing 1			85450952		0.313	ENSG00000133640	8860	g.chr12:85450952C>G										87.574992	KEEP	11	23	-1	72	79	11	23	-1	102.619987	72	79	0.192982	1	0	0	0	0	1	0	0	0	--	--		0	G			LRRIQ1_uc001tab.1_Missense_Mutation_p.T794S|LRRIQ1_uc001taa.1_Missense_Mutation_p.T769S	257	GBM-41-4097-TP	p.T794S	C	CCTTGGGATACTTTACAGCAG	NM_001079910	NP_001073379	85450952	Q96JM4	LRIQ1_HUMAN	0		GBM - Glioblastoma multiforme(134;0.212)	8	2492	+	G	G			Missense_Mutation	794						
LRRIQ1	0	broad.mit.edu	GRCh37	12	85466877	85466877	+	splice_donor_variant	Splice_Site	SNP	G	G	T			TCGA-76-6193-01	TCGA-76-6193-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393217.2:c.2887+1G>T		p.X963_splice	ENST00000393217	NM_001079910.1			0			1			T		uc001tac.2	protein_coding	YES	CCDS41816.1			2887/5169									ovary(4)|central_nervous_system(1)|skin(1)	6	c.e11+1				leucine-rich repeats and IQ motif containing 1				ENSP00000376910											COSM3399155,COSM3399154		.		ENST00000393217	Transcript						ENSG00000133640	g.chr12:85466877G>T	25708			HIGH	26-Nov							--	--	1																																		LRRIQ1_uc001tab.1_Splice_Site_p.C963_splice	1,1	1			p.C963_splice	NM_001079910	NP_001073379			1,1	LRIQ1_HUMAN	LRRIQ1	HGNC	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	A8MY60_HUMAN		11	2998	+			UPI0000ED4E82						SNV	LRRIQ1,splice_donor_variant,,ENST00000393217,NM_001079910.1;LRRIQ1,splice_donor_variant,,ENST00000525971,;	uc001tac.2	c.2887_splice	-/5394	5	1			c.2887_splice						12	SNP	c.e11+1	16	16			ovary(4)|central_nervous_system(1)|skin(1)	6	Broad	leucine-rich repeats and IQ motif containing 1			85466877		0.189	ENSG00000133640	8860	g.chr12:85466877G>T										27.755785	KEEP	6	7	0.461538462	24	30	6	7	0.461538462	33.82644	24	30	0.184615	1	0	0	0	0	0	0	0	1	--	--		0	T			LRRIQ1_uc001tab.1_Splice_Site_p.C963_splice	276	GBM-76-6193-TP	p.C963_splice	G	TACTGGAATTGTAAGttgtgt	NM_001079910	NP_001073379	85466877	Q96JM4	LRIQ1_HUMAN	0		GBM - Glioblastoma multiforme(134;0.212)	11	2998	+	T	T			Splice_Site							
LRRIQ1	84125		GRCh37	12	85459127	85459127	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000393217.2:c.2479C>T	p.Arg827Cys	p.R827C	ENST00000393217	NM_001079910.1	827	Cgc/Tgc	0																																																																																																																																																																																																																																												
LRRIQ1	84125		GRCh37	12	85459186	85459186	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000393217.2:c.2538T>C	p.Asp846=	p.D846=	ENST00000393217	NM_001079910.1	846	gaT/gaC	0																																																																																																																																																																																																																																												
LRRIQ3	0	broad.mit.edu	GRCh37	1	74507363	74507363	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1833-01	TCGA-27-1833-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354431.4:c.1252C>T	p.Arg418Ter	p.R418*	ENST00000354431	NM_001105659.1	418	Cga/Tga	0			1			A	R/*	uc001dfy.3	protein_coding	YES	CCDS41350.1			1252/1875									ovary(2)	2	c.(1252-1254)CGA>TGA			hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF206	leucine-rich repeats and IQ motif containing 3				ENSP00000346414		8-Jul	1.66E-05	0.000102				1.50E-05			rs753314061,COSM3400992	8-Jul	.		ENST00000354431	Transcript						ENSG00000162620	g.chr1:74507363G>A	28318			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,74507363,G,A&fts=all	R418*	--	--	1																																		LRRIQ3_uc001dfz.3_Intron	0,1	1			p.R418*	NM_001105659	NP_001099129			0,1	LRIQ3_HUMAN	LRRIQ3	HGNC	A6PVS8	LRIQ3_HUMAN					7	1444	-			UPI000155D493	418					SNV	LRRIQ3,stop_gained,p.Arg418Ter,ENST00000354431,NM_001105659.1;LRRIQ3,stop_gained,p.Arg418Ter,ENST00000395089,;LRRIQ3,intron_variant,,ENST00000417067,;LRRIQ3,intron_variant,,ENST00000415760,;	uc001dfy.3	c.1252C>T	1444/2849	5	1			c.1252C>T						1	SNP	c.(1252-1254)CGA>TGA	50	50			ovary(2)	2	Broad	leucine-rich repeats and IQ motif containing 3			74507363		0.363	ENSG00000162620	8861	g.chr1:74507363G>A						2			2	199.223009	KEEP	34	34	-1	67	48	34	34	-1	201.668409	67	48	0.373563	1	0	0	0	0	0	1	0	0	--	--		0	A			LRRIQ3_uc001dfz.3_Intron	192	GBM-27-1833-TP	p.R418*	G	CTAAATGTTCGGAGTTTCATA	NM_001105659	NP_001099129	74507363	A6PVS8	LRIQ3_HUMAN	0			7	1444	-	A	A			Nonsense_Mutation	418						
LRRIQ3	0	broad.mit.edu	GRCh37	1	74507037	74507037	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-32-2491-01	TCGA-32-2491-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354431.4:c.1578T>C	p.Thr526=	p.T526=	ENST00000354431	NM_001105659.1	526	acT/acC	0			1			G	T	uc001dfy.3	protein_coding	YES	CCDS41350.1			1578/1875									ovary(2)	2	c.(1576-1578)ACT>ACC			hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF206	leucine-rich repeats and IQ motif containing 3				ENSP00000346414		8-Jul									COSM162258	8-Jul	.		ENST00000354431	Transcript						ENSG00000162620	g.chr1:74507037A>G	28318			LOW								--	--	1																																		LRRIQ3_uc001dfz.3_Intron	1	1			p.T526T	NM_001105659	NP_001099129			1	LRIQ3_HUMAN	LRRIQ3	HGNC	A6PVS8	LRIQ3_HUMAN					7	1770	-			UPI000155D493	526					SNV	LRRIQ3,synonymous_variant,p.=,ENST00000354431,NM_001105659.1;LRRIQ3,synonymous_variant,p.=,ENST00000395089,;LRRIQ3,intron_variant,,ENST00000417067,;LRRIQ3,intron_variant,,ENST00000415760,;	uc001dfy.3	c.1578T>C	1770/2849	3	3			c.1578T>C						1	SNP	c.(1576-1578)ACT>ACC	13	13			ovary(2)	2	Broad	leucine-rich repeats and IQ motif containing 3			74507037		0.358	ENSG00000162620	8861	g.chr1:74507037A>G						2			2	126.61264	KEEP	25	18	-1	60	80	25	18	-1	135.052152	60	80	0.257862	1	0	0	0	0	0	0	1	0	--	--		0	G			LRRIQ3_uc001dfz.3_Intron	235	GBM-32-2491-TP	p.T526T	A	TGGTCAAAAGAGTGCGCTCAT	NM_001105659	NP_001099129	74507037	A6PVS8	LRIQ3_HUMAN	0			7	1770	-	G	G			Silent	526						
LRRIQ4	0	broad.mit.edu	GRCh37	3	169555374	169555374	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-27-2521-01	TCGA-27-2521-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340806.6:c.1638A>G	p.Gly546=	p.G546=	ENST00000340806	NM_001080460.1	546	ggA/ggG	0			1			G	G	uc003fgb.2	protein_coding	YES	CCDS46951.1			1638/1683										0	c.(1636-1638)GGA>GGG			Low_complexity_(Seg):seg	leucine-rich repeats and IQ motif containing 4				ENSP00000342188		5-May									COSM3408417	5-May	.		ENST00000340806	Transcript						ENSG00000188306	g.chr3:169555374A>G	34298			LOW								--	--	1																																			1	1			p.G546G	NM_001080460	NP_001073929			1	LRIQ4_HUMAN	LRRIQ4	HGNC	A6NIV6	LRIQ4_HUMAN					5	1638	+			UPI0000197671	546					SNV	LRRIQ4,synonymous_variant,p.=,ENST00000340806,NM_001080460.1;LRRC31,downstream_gene_variant,,ENST00000316428,NM_024727.3,NM_001277127.1;LRRC31,downstream_gene_variant,,ENST00000264676,NM_001277128.1;LRRC31,downstream_gene_variant,,ENST00000523069,;	uc003fgb.2	c.1638A>G	1638/1827	3	3			c.1638A>G						3	SNP	c.(1636-1638)GGA>GGG	9	9				0	Broad	leucine-rich repeats and IQ motif containing 4			169555374		0.363	ENSG00000188306	8862	g.chr3:169555374A>G										35.549403	KEEP	6	4	-1	11	2	6	4	-1	35.634136	11	2	0.434783	1	0	0	0	0	0	0	1	0	--	--		0	G				200	GBM-27-2521-TP	p.G546G	A	ATAAGAAAGGAAAGAAGGATG	NM_001080460	NP_001073929	169555374	A6NIV6	LRIQ4_HUMAN	0			5	1638	+	G	G			Silent	546						
LRRK1	0	broad.mit.edu	GRCh37	15	101464858	101464859	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C			TCGA-06-6695-01	TCGA-06-6695-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388948.3:c.27dupC	p.Ser10GlnfsTer23	p.S10Qfs*23	ENST00000388948	NM_024652.3	7	-/C	0			1			C	-/X	uc002bwr.2	protein_coding	YES	CCDS42086.1			21-22/6048									ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	c.(19-24)AGACCCfs				leucine-rich repeat kinase 1				ENSP00000373600		Feb-34										Feb-34	.		ENST00000388948	Transcript			small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	ENSG00000154237	g.chr15:101464858_101464859insC	18608	6		HIGH								--	--	1																																		LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bwq.1_Frame_Shift_Ins_p.R7fs		1			p.R7fs	NM_024652	NP_078928				LRRK1_HUMAN	LRRK1	HGNC	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		E9PMK9_HUMAN,E9PLF8_HUMAN,E9PK39_HUMAN,B3KSX5_HUMAN		2	340_341	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		UPI0000D4FE63	7_8					insertion	LRRK1,frameshift_variant,p.Ser10GlnfsTer23,ENST00000388948,NM_024652.3;LRRK1,frameshift_variant,p.Ser10GlnfsTer23,ENST00000532029,;LRRK1,frameshift_variant,p.Ser10GlnfsTer23,ENST00000534045,;LRRK1,5_prime_UTR_variant,,ENST00000284395,;LRRK1,frameshift_variant,p.Ser10GlnfsTer23,ENST00000525284,;LRRK1,frameshift_variant,p.Ser10GlnfsTer23,ENST00000531270,;LRRK1,non_coding_transcript_exon_variant,,ENST00000527698,;	uc002bwr.2	c.21_22insC	380-381/7671	5	5			c.21_22insC						15	INS	c.(19-24)AGACCCfs	NaN	0			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Broad	leucine-rich repeat kinase 1			101464859		0.594	ENSG00000154237	8863	g.chr15:101464858_101464859insC	small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			1100			1100														0.51	1	0	0	1	1	0	0	0	0	--	--		0	C			LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bwq.1_Frame_Shift_Ins_p.R7fs	110	GBM-06-6695-TP	p.R7fs	-	TGTCGCAAAGACCCCCCAGCAT	NM_024652	NP_078928	101464858	Q38SD2	LRRK1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		2	340_341	+	C	C	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		Frame_Shift_Ins	7_8						
LRRK1	79705		GRCh37	15	101569415	101569415	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000388948.3:c.2941G>A	p.Ala981Thr	p.A981T	ENST00000388948	NM_024652.3	981	Gcc/Acc	0																																																																																																																																																																																																																																												
LRRK2	0	broad.mit.edu	GRCh37	12	40715936	40715936	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-6695-01	TCGA-06-6695-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298910.7:c.5270A>G	p.Asn1757Ser	p.N1757S	ENST00000298910	NM_198578.3	1757	aAt/aGt	0	G:0.0002		1			G	N/S	uc001rmg.3	protein_coding	YES	CCDS31774.1			5270/7584									ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	c.(5269-5271)AAT>AGT			hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF417	leucine-rich repeat kinase 2			G:0	ENSP00000298910		36/51	8.24E-06	9.70E-05							rs368762897,COSM3398698	36/51	.		ENST00000298910	Transcript	1		activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	ENSG00000188906	g.chr12:40715936A>G	18618			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=LRRK2_HUMAN&rb=1656&re=1855&var=N1757S	NA	getma.org/?cm=var&var=hg19,12,40715936,A,G&fts=all	N1757S	--	--	1																																		LRRK2_uc009zjw.2_Missense_Mutation_p.N595S|LRRK2_uc001rmi.2_Missense_Mutation_p.N590S	0,1	1		benign(0.004)	p.N1757S	NM_198578	NP_940980		tolerated(0.39)	0,1	LRRK2_HUMAN	LRRK2	HGNC	Q5S007	LRRK2_HUMAN					36	5391	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	UPI00006C128E	1757					SNV	LRRK2,missense_variant,p.Asn1757Ser,ENST00000298910,NM_198578.3;LRRK2,downstream_gene_variant,,ENST00000481256,;LRRK2,3_prime_UTR_variant,,ENST00000430804,;LRRK2,non_coding_transcript_exon_variant,,ENST00000479187,;	uc001rmg.3	c.5270A>G	5328/9158	4	4			c.5270A>G						12	SNP	c.(5269-5271)AAT>AGT	24	24			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	Broad	leucine-rich repeat kinase 2			40715936		0.353	ENSG00000188906	8864	g.chr12:40715936A>G	activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			1771			1771	72.870826	KEEP	10	12	-1	20	14	10	12	-1	73.216269	20	14	0.411765	1	0	0	0	0	1	0	0	0	--	--		0	G			LRRK2_uc009zjw.2_Missense_Mutation_p.N595S|LRRK2_uc001rmi.2_Missense_Mutation_p.N590S	110	GBM-06-6695-TP	p.N1757S	A	GTCTTAGACAATCATCCAGAG	NM_198578	NP_940980	40715936	Q5S007	LRRK2_HUMAN	0			36	5391	+	G	G	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	Missense_Mutation	1757						
LRRK2	0	broad.mit.edu	GRCh37	12	40618993	40618996	+	frameshift_variant	Frame_Shift_Del	DEL	AGTC	AGTC	-			TCGA-28-2509-01	TCGA-28-2509-01	AGTC	AGTC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298910.7:c.62_65delTCAG	p.Val21GlyfsTer2	p.V21Gfs*2	ENST00000298910	NM_198578.3	20	atAGTC/at	0			1			-	IV/X	uc001rmg.3	protein_coding	YES	CCDS31774.1			60-63/7584									ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	c.(58-63)ATAGTCfs				leucine-rich repeat kinase 2				ENSP00000298910		Jan-51										Jan-51	.		ENST00000298910	Transcript	1		activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	ENSG00000188906	g.chr12:40618993_40618996delAGTC	18618	2		HIGH								--	--	1																																				1			p.I20fs	NM_198578	NP_940980				LRRK2_HUMAN	LRRK2	HGNC	Q5S007	LRRK2_HUMAN					1	181_184	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	UPI00006C128E	20_21					deletion	LRRK2,frameshift_variant,p.Val21GlyfsTer2,ENST00000298910,NM_198578.3;LRRK2,frameshift_variant,p.Val21GlyfsTer2,ENST00000343742,;LRRK2,intron_variant,,ENST00000416796,;AC079630.4,upstream_gene_variant,,ENST00000412812,;LRRK2,upstream_gene_variant,,ENST00000474202,;	uc001rmg.3	c.60_63delAGTC	118-121/9158	5	5			c.60_63delAGTC						12	DEL	c.(58-63)ATAGTCfs	52	52			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	Broad	leucine-rich repeat kinase 2			40618996		0.544	ENSG00000188906	8864	g.chr12:40618993_40618996delAGTC	activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			1771			1771														0.41	1	1	0	1	0	0	0	0	0	--	--		0	-				211	GBM-28-2509-TP	p.I20fs	AGTC	AGAAGTTGATAGTCAGGCTGAACA	NM_198578	NP_940980	40618993	Q5S007	LRRK2_HUMAN	0			1	181_184	+	-	-	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	Frame_Shift_Del	20_21						
LRRK2	0	broad.mit.edu	GRCh37	12	40689281	40689281	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298910.7:c.2931G>A	p.Leu977=	p.L977=	ENST00000298910	NM_198578.3	977	ctG/ctA	0			1			A	L	uc001rmg.3	protein_coding	YES	CCDS31774.1			2931/7584									ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	c.(2929-2931)CTG>CTA			hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF417,Superfamily_domains:SSF52058	leucine-rich repeat kinase 2				ENSP00000298910		23/51									COSM3398697,COSM3398696	23/51	.		ENST00000298910	Transcript	1		activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	ENSG00000188906	g.chr12:40689281G>A	18618			LOW								--	--	1																																		LRRK2_uc001rmh.1_Silent_p.L599L|LRRK2_uc009zjw.2_5'UTR	1,1	1			p.L977L	NM_198578	NP_940980			1,1	LRRK2_HUMAN	LRRK2	HGNC	Q5S007	LRRK2_HUMAN					23	3052	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	UPI00006C128E	977					SNV	LRRK2,synonymous_variant,p.=,ENST00000298910,NM_198578.3;LRRK2,synonymous_variant,p.=,ENST00000343742,;LRRK2,upstream_gene_variant,,ENST00000479187,;LRRK2,upstream_gene_variant,,ENST00000430804,;	uc001rmg.3	c.2931G>A	2989/9158	2	2			c.2931G>A						12	SNP	c.(2929-2931)CTG>CTA	25	25			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	Broad	leucine-rich repeat kinase 2			40689281		0.343	ENSG00000188906	8864	g.chr12:40689281G>A	activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			1771			1771	53.695169	KEEP	12	12	-1	44	40	12	12	-1	60.344214	44	40	0.226804	1	0	0	0	0	0	0	1	0	--	--		0	A			LRRK2_uc001rmh.1_Silent_p.L599L|LRRK2_uc009zjw.2_5'UTR	232	GBM-32-1982-TP	p.L977L	G	TTTCTTCTCTGGCTTCTGAGA	NM_198578	NP_940980	40689281	Q5S007	LRRK2_HUMAN	0			23	3052	+	A	A	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	Silent	977						
LRRTM2	0	broad.mit.edu	GRCh37	5	138209080	138209081	+	stop_gained,frameshift_variant	Nonsense_Mutation	INS	-	-	T			TCGA-26-1439-01	TCGA-26-1439-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274711.6:c.1169dupA	p.Tyr390Ter	p.Y390*	ENST00000274711	NM_015564.2	390	tac/taAc	0			1			T	Y/*	uc011cyz.1	protein_coding	YES	CCDS47272.1			1169-1170/1551										0	c.(1168-1170)TACfs			hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF20	leucine rich repeat transmembrane neuronal 2				ENSP00000274711		2-Feb										2-Feb	.		ENST00000274711	Transcript				cell junction|integral to membrane|postsynaptic membrane		ENSG00000146006	g.chr5:138209080_138209081insT	19409			HIGH								--	--	1																																		CTNNA1_uc003ldh.2_Intron|CTNNA1_uc011cyx.1_Intron|CTNNA1_uc011cyy.1_Intron|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Intron|LRRTM2_uc010jez.2_Intron|LRRTM2_uc011cza.1_Frame_Shift_Ins_p.Y256fs|CTNNA1_uc003ldl.2_5'Flank		1			p.Y390fs	NM_015564	NP_056379				LRRT2_HUMAN	LRRTM2	HGNC	O43300	LRRT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)				2	1626_1627	-			UPI0000070039	390			Extracellular (Potential).		insertion	LRRTM2,stop_gained,p.Tyr390Ter,ENST00000274711,NM_015564.2;LRRTM2,3_prime_UTR_variant,,ENST00000518785,;CTNNA1,intron_variant,,ENST00000302763,NM_001903.2;CTNNA1,intron_variant,,ENST00000518825,;CTNNA1,intron_variant,,ENST00000355078,;LRRTM2,intron_variant,,ENST00000521094,;CTNNA1,upstream_gene_variant,,ENST00000540387,;CTNNA1,upstream_gene_variant,,ENST00000522013,;CTNNA1,upstream_gene_variant,,ENST00000520260,;CTNNA1,upstream_gene_variant,,ENST00000523685,;CTNNA1,upstream_gene_variant,,ENST00000519634,;CTNNA1,upstream_gene_variant,,ENST00000517533,;CTNNA1,upstream_gene_variant,,ENST00000523298,;CTNNA1,upstream_gene_variant,,ENST00000521640,;CTNNA1,upstream_gene_variant,,ENST00000521683,;CTNNA1,upstream_gene_variant,,ENST00000519116,;CTNNA1,upstream_gene_variant,,ENST00000519768,;CTNNA1,upstream_gene_variant,,ENST00000520865,;CTNNA1,upstream_gene_variant,,ENST00000517656,;CTNNA1,upstream_gene_variant,,ENST00000518381,;CTNNA1,intron_variant,,ENST00000520400,;CTNNA1,upstream_gene_variant,,ENST00000522052,;CTNNA1,upstream_gene_variant,,ENST00000524292,;CTNNA1,upstream_gene_variant,,ENST00000518263,;LRRTM2,downstream_gene_variant,,ENST00000523537,;CTNNA1,intron_variant,,ENST00000521724,;CTNNA1,intron_variant,,ENST00000523275,;CTNNA1,intron_variant,,ENST00000517534,;	uc011cyz.1	c.1169_1170insA	1548-1549/6017	5	5			c.1169_1170insA						5	INS	c.(1168-1170)TACfs	61	61				0	Broad	leucine rich repeat transmembrane neuronal 2			138209081		0.431	ENSG00000146006	8871	g.chr5:138209080_138209081insT		cell junction|integral to membrane|postsynaptic membrane																					0.38	1	0	0	1	1	0	0	0	0	--	--		0	T			CTNNA1_uc003ldh.2_Intron|CTNNA1_uc011cyx.1_Intron|CTNNA1_uc011cyy.1_Intron|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Intron|LRRTM2_uc010jez.2_Intron|LRRTM2_uc011cza.1_Frame_Shift_Ins_p.Y256fs|CTNNA1_uc003ldl.2_5'Flank	179	GBM-26-1439-TP	p.Y390fs	-	CTCCCACATGGTAACTTGATGA	NM_015564	NP_056379	138209080	O43300	LRRT2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		2	1626_1627	-	T	T			Frame_Shift_Ins	390			Extracellular (Potential).			
LRTM2	654429	broad.mit.edu	GRCh37	12	1943505	1943505	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0195-01	TCGA-06-0195-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000543818.1:c.731T>G	p.Met244Arg	p.M244R	ENST00000543818	NM_001163926.1	244	aTg/aGg	0			1			G	M/R	uc001qjt.2	protein_coding		CCDS31726.1			731/1113									large_intestine(1)	1	c.(730-732)ATG>AGG			hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF103,SMART_domains:SM00082,Superfamily_domains:SSF52058	leucine-rich repeats and transmembrane domains 2				ENSP00000299194		5-May									COSM3398590	5-May	.		ENST00000299194	Transcript				integral to membrane		ENSG00000166159	g.chr12:1943505T>G	32443			MODERATE		0.065	neutral	getma.org/?cm=msa&ty=f&p=LRTM2_HUMAN&rb=198&re=252&var=M244R	getma.org/pdb.php?prot=LRTM2_HUMAN&from=198&to=252&var=M244R	getma.org/?cm=var&var=hg19,12,1943505,T,G&fts=all	M244R	--	--	1																																		CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.M244R|LRTM2_uc010sdx.1_Missense_Mutation_p.M244R|LRTM2_uc001qjv.2_Missense_Mutation_p.M6R	1			benign(0.248)	p.M244R	NM_001039029	NP_001034118		tolerated(0.06)	1	LRTM2_HUMAN	LRTM2	HGNC	Q8N967	LRTM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000834)		F5H2B4_HUMAN,F5GZY9_HUMAN		5	1537	+	Ovarian(42;0.107)		UPI00000714D3	244			LRRCT.|Extracellular (Potential).		SNV	LRTM2,missense_variant,p.Met244Arg,ENST00000543818,NM_001163926.1,NM_001163925.1,NM_001039029.2;LRTM2,missense_variant,p.Met244Arg,ENST00000299194,;LRTM2,missense_variant,p.Met244Arg,ENST00000535041,;CACNA2D4,intron_variant,,ENST00000382722,NM_172364.4;CACNA2D4,intron_variant,,ENST00000587995,;CACNA2D4,intron_variant,,ENST00000586184,;CACNA2D4,intron_variant,,ENST00000588077,;CACNA2D4,intron_variant,,ENST00000585708,;CACNA2D4,intron_variant,,ENST00000585732,;LRTM2,downstream_gene_variant,,ENST00000546167,;LRTM2,downstream_gene_variant,,ENST00000543694,;LRTM2,non_coding_transcript_exon_variant,,ENST00000543730,;LRTM2,downstream_gene_variant,,ENST00000544489,;LRTM2,downstream_gene_variant,,ENST00000546157,;LRTM2,downstream_gene_variant,,ENST00000540378,;CACNA2D4,intron_variant,,ENST00000280663,;CACNA2D4,intron_variant,,ENST00000444595,;CACNA2D4,intron_variant,,ENST00000537784,;	uc001qjt.2	c.731T>G	1275/3688	3	3			c.731T>G						12	SNP	c.(730-732)ATG>AGG	13	13			large_intestine(1)	1	Broad	leucine-rich repeats and transmembrane domains 2			1943505		0.597	ENSG00000166159	8876	g.chr12:1943505T>G		integral to membrane								88.106314	KEEP	15	11	-1	10	11	15	11	-1	88.293356	10	11	0.571429	1	0	0	0	0	1	0	0	0	--	--		0	G			CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.M244R|LRTM2_uc010sdx.1_Missense_Mutation_p.M244R|LRTM2_uc001qjv.2_Missense_Mutation_p.M6R	45	GBM-06-0195-TP	p.M244R	T	ATGGTCCCCATGGAGATGTTC	NM_001039029	NP_001034118	1943505	Q8N967	LRTM2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(31;0.000834)		5	1537	+	G	G	Ovarian(42;0.107)		Missense_Mutation	244			LRRCT.|Extracellular (Potential).			
LSG1	55341		GRCh37	3	194369500	194369500	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000265245.5:c.1453G>T	p.Ala485Ser	p.A485S	ENST00000265245	NM_018385.2	485	Gct/Tct	0																																																																																																																																																																																																																																												
LSM14A	0	broad.mit.edu	GRCh37	19	34710329	34710329	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5950-01	TCGA-19-5950-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000433627.5:c.815G>A	p.Arg272His	p.R272H	ENST00000433627	NM_001114093.1	272	cGt/cAt	0			1			A	R/H	uc002nvb.3	protein_coding		CCDS46040.1			815/1392									skin(1)	1	c.(814-816)CGT>CAT			hmmpanther:PTHR13586,hmmpanther:PTHR13586:SF2,Low_complexity_(Seg):seg	LSM14 homolog A isoform a				ENSP00000413964		11-Jul									COSM2156561	11-Jul	.		ENST00000433627	Transcript			cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		ENSG00000257103	g.chr19:34710329G>A	24489			MODERATE		2.51	medium	getma.org/?cm=msa&ty=f&p=LS14A_HUMAN&rb=99&re=289&var=R272H	NA	getma.org/?cm=var&var=hg19,19,34710329,G,A&fts=all	R272H	--	--	1																																		LSM14A_uc002nva.3_Missense_Mutation_p.R272H|LSM14A_uc010xru.1_Missense_Mutation_p.R231H|LSM14A_uc002nvc.3_Missense_Mutation_p.R78H	1			probably_damaging(0.97)	p.R272H	NM_001114093	NP_001107565		deleterious(0.01)	1	LS14A_HUMAN	LSM14A	HGNC	Q8ND56	LS14A_HUMAN					7	1011	+	Esophageal squamous(110;0.162)		UPI00001D8A5A	272					SNV	LSM14A,missense_variant,p.Arg272His,ENST00000544216,NM_015578.2;LSM14A,missense_variant,p.Arg272His,ENST00000433627,NM_001114093.1;LSM14A,missense_variant,p.Arg231His,ENST00000540746,;LSM14A,missense_variant,p.Arg208His,ENST00000586157,;LSM14A,non_coding_transcript_exon_variant,,ENST00000588582,;LSM14A,upstream_gene_variant,,ENST00000590416,;LSM14A,upstream_gene_variant,,ENST00000585887,;	uc002nvb.3	c.815G>A	890/3424	1	1			c.815G>A						19	SNP	c.(814-816)CGT>CAT	61	61			skin(1)	1	Broad	LSM14 homolog A isoform a			34710329		0.443	ENSG00000257103	8885	g.chr19:34710329G>A	cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule								213.211886	KEEP	39	45	-1	77	83	39	45	-1	218.155098	77	83	0.340909	1	0	0	0	0	1	0	0	0	--	--		0	A			LSM14A_uc002nva.3_Missense_Mutation_p.R272H|LSM14A_uc010xru.1_Missense_Mutation_p.R231H|LSM14A_uc002nvc.3_Missense_Mutation_p.R78H	170	GBM-19-5950-TP	p.R272H	G	AGGAGAGGGCGTGGGGGTCAT	NM_001114093	NP_001107565	34710329	Q8ND56	LS14A_HUMAN	0			7	1011	+	A	A	Esophageal squamous(110;0.162)		Missense_Mutation	272						
LSMD1			GRCh37	17	7760481	7760503	+	frameshift_variant	Frame_Shift_Del	DEL	CTCAGCCGCCGAGTCCTCGCGCT	CTCAGCCGCCGAGTCCTCGCGCT	-			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000333775.5:c.239_261del	p.Glu80AlafsTer32	p.E80Afs*32	ENST00000333775	NM_032356.3	80	gAGCGCGAGGACTCGGCGGCTGAG/g	0																																																																																																																																																																																																																																												
LSMEM1	0	broad.mit.edu	GRCh37	7	112129963	112129963	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-76-4928-01	TCGA-76-4928-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312849.4:c.355C>T	p.Arg119Ter	p.R119*	ENST00000312849	NM_182597.2	119	Cga/Tga	0			1			T	R/*	uc011kmq.1	protein_coding	YES	CCDS5756.1			355/396									ovary(1)	1	c.(355-357)CGA>TGA			Pfam_domain:PF15145	hypothetical protein LOC286006				ENSP00000323304		4-Apr	1.65E-05					1.50E-05		6.10E-05	rs773873329,COSM3256295	4-Apr	.		ENST00000312849	Transcript				integral to membrane		ENSG00000181016	g.chr7:112129963C>T	22036			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,112129963,C,T&fts=all	R119*	--	--	1																																		C7orf53_uc003vgl.2_RNA|C7orf53_uc003vgm.2_Nonsense_Mutation_p.R119*	0,1	1			p.R119*	NM_001134468	NP_001127940			0,1	LSME1_HUMAN	LSMEM1	HGNC	Q8N8F7	CG053_HUMAN					4	490	+			UPI000006F884	119			Potential.		SNV	LSMEM1,stop_gained,p.Arg119Ter,ENST00000312849,NM_182597.2;LSMEM1,stop_gained,p.Arg119Ter,ENST00000439068,NM_001134468.1;LSMEM1,downstream_gene_variant,,ENST00000429049,;LSMEM1,non_coding_transcript_exon_variant,,ENST00000486022,;LSMEM1,non_coding_transcript_exon_variant,,ENST00000471030,;LSMEM1,3_prime_UTR_variant,,ENST00000455302,;	uc011kmq.1	c.355C>T	716/1870	5	1			c.355C>T						7	SNP	c.(355-357)CGA>TGA	4	4			ovary(1)	1	Broad	hypothetical protein LOC286006			112129963		0.388	ENSG00000181016	2353	g.chr7:112129963C>T		integral to membrane								70.618651	KEEP	28	20	-1	100	125	28	20	-1	95.396587	100	125	0.172131	1	0	0	0	0	0	1	0	0	--	--		0	T			C7orf53_uc003vgl.2_RNA|C7orf53_uc003vgm.2_Nonsense_Mutation_p.R119*	268	GBM-76-4928-TP	p.R119*	C	GATCGTAAAGCGACTCAACCA	NM_001134468	NP_001127940	112129963	Q8N8F7	CG053_HUMAN	0			4	490	+	T	T			Nonsense_Mutation	119			Potential.			
LSMEM2	0	broad.mit.edu	GRCh37	3	50324238	50324238	+	synonymous_variant	Silent	SNP	C	C	T	rs116862338	by1000genomes	TCGA-32-2632-01	TCGA-32-2632-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316436.3:c.306C>T	p.Leu102=	p.L102=	ENST00000316436	NM_153215.1	102	ctC/ctT	0		T:0.0008	1	T:0		T	L	uc003cyz.2	protein_coding	YES	CCDS2814.1			306/495									ovary(1)	1	c.(304-306)CTC>CTT			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	hypothetical protein LOC132228		T:0.001		ENSP00000315081	T:0	4-Mar	2.47E-05	9.64E-05		0.000231					rs116862338,COSM3408763	4-Mar	.		ENST00000316436	Transcript		T:0.0004		integral to membrane		ENSG00000179564	g.chr3:50324238C>T	26781			LOW								--	--	1																																			0,1	1			p.L102L	NM_153215	NP_694947	T:0		0,1	LSME2_HUMAN	LSMEM2	HGNC	Q8N112	CC045_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)			3	333	+			UPI000006DE81	102			Helical; (Potential).		SNV	LSMEM2,synonymous_variant,p.=,ENST00000316436,NM_153215.1;IFRD2,downstream_gene_variant,,ENST00000436390,;IFRD2,downstream_gene_variant,,ENST00000336089,;IFRD2,downstream_gene_variant,,ENST00000417626,NM_006764.4;IFRD2,downstream_gene_variant,,ENST00000429673,;IFRD2,downstream_gene_variant,,ENST00000426499,;IFRD2,downstream_gene_variant,,ENST00000484043,;IFRD2,downstream_gene_variant,,ENST00000468737,;IFRD2,downstream_gene_variant,,ENST00000474556,;IFRD2,downstream_gene_variant,,ENST00000414734,;IFRD2,downstream_gene_variant,,ENST00000489569,;IFRD2,downstream_gene_variant,,ENST00000438296,;IFRD2,downstream_gene_variant,,ENST00000464258,;IFRD2,downstream_gene_variant,,ENST00000462001,;IFRD2,downstream_gene_variant,,ENST00000483071,;IFRD2,downstream_gene_variant,,ENST00000492387,;IFRD2,downstream_gene_variant,,ENST00000486322,;IFRD2,downstream_gene_variant,,ENST00000469855,;	uc003cyz.2	c.306C>T	393/1494	2	2			c.306C>T						3	SNP	c.(304-306)CTC>CTT	42	42			ovary(1)	1	Broad	hypothetical protein LOC132228			50324238		0.617	ENSG00000179564	2187	g.chr3:50324238C>T		integral to membrane								55.607448	KEEP	11	11	-1	23	18	11	11	-1	57.00896	23	18	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	T				240	GBM-32-2632-TP	p.L102L	C	TGCTGCTGCTCGCGCTGCTGG	NM_153215	NP_694947	50324238	Q8N112	CC045_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	3	333	+	T	T			Silent	102			Helical; (Potential).			
LSR	0	broad.mit.edu	GRCh37	19	35741541	35741541	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01	TCGA-12-1597-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361790.3:c.577C>T	p.Arg193Trp	p.R193W	ENST00000361790	NM_205834.3	193	Cgg/Tgg	0		T:0	1	T:0		T	R/W	uc002nyl.2	protein_coding	YES	CCDS12450.1			577/1950										0	c.(577-579)CGG>TGG			Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR15923,hmmpanther:PTHR15923:SF1,SMART_domains:SM00409,Superfamily_domains:SSF48726	lipolysis stimulated lipoprotein receptor		T:0		ENSP00000354575	T:0	10-Feb	2.47E-05		8.98E-05					9.61E-05	rs543260729,COSM3404117	10-Feb	.		ENST00000361790	Transcript		T:0.0002	embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	ENSG00000105699	g.chr19:35741541C>T	29572			MODERATE		2.685	medium	getma.org/?cm=msa&ty=f&p=LSR_HUMAN&rb=86&re=234&var=R193W	NA	getma.org/?cm=var&var=hg19,19,35741541,C,T&fts=all	R193W	--	--	1																																		LSR_uc002nym.2_Missense_Mutation_p.R193W|LSR_uc002nyn.2_Missense_Mutation_p.R193W|LSR_uc002nyo.2_Missense_Mutation_p.R193W|LSR_uc010xsr.1_Missense_Mutation_p.R193W|LSR_uc002nyp.2_Missense_Mutation_p.R156W	0,1	1		probably_damaging(0.999)	p.R193W	NM_205834	NP_991403	T:0.001	deleterious(0)	0,1	LSR_HUMAN	LSR	HGNC	Q86X29	LSR_HUMAN	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)				2	800	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		UPI000003117A	193			Extracellular (Potential).|Ig-like V-type.		SNV	LSR,missense_variant,p.Arg193Trp,ENST00000602122,;LSR,missense_variant,p.Arg193Trp,ENST00000361790,NM_205834.3;LSR,missense_variant,p.Arg193Trp,ENST00000354900,NM_015925.6,NM_001260489.1;LSR,missense_variant,p.Arg193Trp,ENST00000360798,NM_205835.3;LSR,missense_variant,p.Arg156Trp,ENST00000347609,;LSR,missense_variant,p.Arg152Trp,ENST00000605618,NM_001260490.1;LSR,missense_variant,p.Arg145Trp,ENST00000427250,;LSR,missense_variant,p.Arg119Trp,ENST00000601623,;LSR,missense_variant,p.Arg26Trp,ENST00000599658,;LSR,downstream_gene_variant,,ENST00000602003,;AC002128.5,downstream_gene_variant,,ENST00000604161,;LSR,non_coding_transcript_exon_variant,,ENST00000597933,;LSR,non_coding_transcript_exon_variant,,ENST00000602044,;	uc002nyl.2	c.577C>T	736/2210	1	1			c.577C>T						19	SNP	c.(577-579)CGG>TGG	4	4				0	Broad	lipolysis stimulated lipoprotein receptor			35741541		0.642	ENSG00000105699	8895	g.chr19:35741541C>T	embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity							-6.825578	KEEP	1	3	-1	28	36	1	3	-1	6.895845	28	36	0.047619	1	0	0	0	0	1	0	0	0	--	--		0	T			LSR_uc002nym.2_Missense_Mutation_p.R193W|LSR_uc002nyn.2_Missense_Mutation_p.R193W|LSR_uc002nyo.2_Missense_Mutation_p.R193W|LSR_uc010xsr.1_Missense_Mutation_p.R193W|LSR_uc002nyp.2_Missense_Mutation_p.R156W	124	GBM-12-1597-TP	p.R193W	C	CTACCAGGGCCGGAGGATTAC	NM_205834	NP_991403	35741541	Q86X29	LSR_HUMAN	0	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		2	800	+	T	T	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Missense_Mutation	193			Extracellular (Potential).|Ig-like V-type.			
LSR	0	broad.mit.edu	GRCh37	19	35757850	35757850	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01	TCGA-12-3649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361790.3:c.1268C>T	p.Pro423Leu	p.P423L	ENST00000361790	NM_205834.3	423	cCc/cTc	0			1			T	P/L	uc002nyl.2	protein_coding	YES	CCDS12450.1			1268/1950										0	c.(1267-1269)CCC>CTC			hmmpanther:PTHR15923,hmmpanther:PTHR15923:SF1	lipolysis stimulated lipoprotein receptor				ENSP00000354575		10-Aug	1.65E-05			0.000116	0.000167				rs764830985,COSM3404118	10-Aug	.		ENST00000361790	Transcript			embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	ENSG00000105699	g.chr19:35757850C>T	29572			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=LSR_HUMAN&rb=308&re=507&var=P423L	NA	getma.org/?cm=var&var=hg19,19,35757850,C,T&fts=all	P423L	--	--	1																																		LSR_uc002nym.2_Missense_Mutation_p.P404L|LSR_uc002nyn.2_Missense_Mutation_p.P355L|LSR_uc002nyo.2_Missense_Mutation_p.P403L|LSR_uc010xsr.1_Missense_Mutation_p.P315L|LSR_uc002nyp.2_Missense_Mutation_p.P365L|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nys.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyu.1_5'Flank|USF2_uc002nyv.1_5'Flank	0,1	1		benign(0.008)	p.P423L	NM_205834	NP_991403		tolerated(0.37)	0,1	LSR_HUMAN	LSR	HGNC	Q86X29	LSR_HUMAN	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)				8	1491	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		UPI000003117A	423			Cytoplasmic (Potential).		SNV	LSR,missense_variant,p.Pro403Leu,ENST00000602122,;LSR,missense_variant,p.Pro423Leu,ENST00000361790,NM_205834.3;LSR,missense_variant,p.Pro404Leu,ENST00000354900,NM_015925.6,NM_001260489.1;LSR,missense_variant,p.Pro355Leu,ENST00000360798,NM_205835.3;LSR,missense_variant,p.Pro365Leu,ENST00000347609,;LSR,missense_variant,p.Pro267Leu,ENST00000427250,;LSR,missense_variant,p.Pro274Leu,ENST00000605618,NM_001260490.1;USF2,upstream_gene_variant,,ENST00000222305,NM_003367.2;USF2,upstream_gene_variant,,ENST00000595068,;USF2,upstream_gene_variant,,ENST00000343550,NM_207291.1;USF2,upstream_gene_variant,,ENST00000594064,;USF2,upstream_gene_variant,,ENST00000599471,;USF2,upstream_gene_variant,,ENST00000379134,;USF2,upstream_gene_variant,,ENST00000596380,;USF2,upstream_gene_variant,,ENST00000598058,;USF2,upstream_gene_variant,,ENST00000599625,;LSR,downstream_gene_variant,,ENST00000599658,;AD000684.2,downstream_gene_variant,,ENST00000602262,;USF2,upstream_gene_variant,,ENST00000600341,;LSR,downstream_gene_variant,,ENST00000597933,;LSR,downstream_gene_variant,,ENST00000602044,;LSR,non_coding_transcript_exon_variant,,ENST00000597446,;USF2,upstream_gene_variant,,ENST00000607959,;USF2,upstream_gene_variant,,ENST00000602164,;USF2,upstream_gene_variant,,ENST00000593708,;USF2,upstream_gene_variant,,ENST00000597671,;	uc002nyl.2	c.1268C>T	1427/2210	2	2			c.1268C>T						19	SNP	c.(1267-1269)CCC>CTC	44	44				0	Broad	lipolysis stimulated lipoprotein receptor			35757850		0.622	ENSG00000105699	8895	g.chr19:35757850C>T	embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity							74.549347	KEEP	13	16	-1	27	27	13	16	-1	76.520627	27	27	0.328947	1	0	0	0	0	1	0	0	0	--	--		0	T			LSR_uc002nym.2_Missense_Mutation_p.P404L|LSR_uc002nyn.2_Missense_Mutation_p.P355L|LSR_uc002nyo.2_Missense_Mutation_p.P403L|LSR_uc010xsr.1_Missense_Mutation_p.P315L|LSR_uc002nyp.2_Missense_Mutation_p.P365L|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nys.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyu.1_5'Flank|USF2_uc002nyv.1_5'Flank	125	GBM-12-3649-TP	p.P423L	C	CCTGGCCCCCCCAGTGGCCGT	NM_205834	NP_991403	35757850	Q86X29	LSR_HUMAN	0	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		8	1491	+	T	T	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Missense_Mutation	423			Cytoplasmic (Potential).			
LST3	0	broad.mit.edu	GRCh37	12	21229466	21229466	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-27-1833-01	TCGA-27-1833-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000421593.2:c.1687C>T	p.Arg563Ter	p.R563*	ENST00000421593	NM_001009562.4	563	Cga/Tga	0			1			T	R/*	uc010sil.1	protein_coding	YES				2011/2247									large_intestine(2)|ovary(1)|skin(1)	4	c.(2011-2013)CGA>TGA			hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF78	SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c;				ENSP00000441269		15/16									COSM3398603	15/16	.		ENST00000540229	Transcript			bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	ENSG00000257046	g.chr12:21229466C>T				HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,12,21229466,C,T&fts=all	R563*	--	--	1																																		LST-3TM12_uc010sim.1_Nonsense_Mutation_p.R610*|LST-3TM12_uc010sin.1_Nonsense_Mutation_p.R563*	1				p.R671*					1		LST3	Uniprot_gn	Q9NPD5	SO1B3_HUMAN			Q5JAR4_HUMAN,F5H8K0_HUMAN		15	2076	+	Esophageal squamous(101;0.149)		UPI00004A0698	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					SNV	LST3,stop_gained,p.Arg671Ter,ENST00000540229,;LST3,stop_gained,p.Arg610Ter,ENST00000381541,;SLCO1B3,stop_gained,p.Arg671Ter,ENST00000553473,;SLCO1B7,stop_gained,p.Arg610Ter,ENST00000554957,;SLCO1B7,stop_gained,p.Arg563Ter,ENST00000421593,NM_001009562.4;SLCO1B7,stop_gained,p.Arg72Ter,ENST00000545916,;SLCO1B7,downstream_gene_variant,,ENST00000541784,;RP11-125O5.2,stop_gained,p.Arg64Ter,ENST00000590779,;RP11-125O5.2,stop_gained,p.Arg65Ter,ENST00000585342,;RP11-125O5.2,stop_gained,p.Arg50Ter,ENST00000592513,;RP11-125O5.2,stop_gained,p.Arg82Ter,ENST00000543498,;RP11-125O5.2,stop_gained,p.Arg66Ter,ENST00000593147,;	uc010sil.1	c.2011C>T	2076/2451	5	1			c.2011C>T						12	SNP	c.(2011-2013)CGA>TGA	1	1			large_intestine(2)|ovary(1)|skin(1)	4	Broad	SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c;			21229466		0.353	ENSG00000257046	14496	g.chr12:21229466C>T	bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity							309.580494	KEEP	58	65	-1	116	97	58	65	-1	314.445059	116	97	0.361111	1	0	0	0	0	0	1	0	0	--	--		0	T			LST-3TM12_uc010sim.1_Nonsense_Mutation_p.R610*|LST-3TM12_uc010sin.1_Nonsense_Mutation_p.R563*	192	GBM-27-1833-TP	p.R671*	C	CTGTGGAGCACGAGGGGCTTG			21229466	Q9NPD5	SO1B3_HUMAN	0			15	2076	+	T	T	Esophageal squamous(101;0.149)		Nonsense_Mutation	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						
LST3	0	broad.mit.edu	GRCh37	12	21175884	21175884	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-27-2524-01	TCGA-27-2524-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000421593.2:c.441T>C	p.Ser147=	p.S147=	ENST00000421593	NM_001009562.4	147	tcT/tcC	0			1			C		uc010sin.1	protein_coding	YES				-/2247										0	c.(439-441)TCT>TCC				liver-specific organic anion transporter 3TM12				ENSP00000441269											COSM3398600		.		ENST00000540229	Transcript				membrane	transporter activity	ENSG00000257046	g.chr12:21175884T>C				MODIFIER	13/15							--	--	1																																		SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Silent_p.S194S	1				p.S147S	NM_001009562	NP_001009562			1		LST3	Uniprot_gn	Q71QF0	Q71QF0_HUMAN			Q5JAR4_HUMAN,F5H8K0_HUMAN		4	441	+			UPI00004A0698	147					SNV	LST3,synonymous_variant,p.=,ENST00000381541,;SLCO1B7,synonymous_variant,p.=,ENST00000554957,;SLCO1B7,synonymous_variant,p.=,ENST00000421593,NM_001009562.4;LST3,intron_variant,,ENST00000540229,;SLCO1B3,intron_variant,,ENST00000553473,;	uc010sin.1	c.441T>C	-/2451	3	3			c.441T>C						12	SNP	c.(439-441)TCT>TCC	1	1				0	Broad	liver-specific organic anion transporter 3TM12			21175884		0.383	ENSG00000257046	8897	g.chr12:21175884T>C		membrane	transporter activity							203.484101	KEEP	31	30	-1	48	45	31	30	-1	204.92423	48	45	0.394558	1	0	0	0	0	0	0	1	0	--	--		0	C			SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Silent_p.S194S	202	GBM-27-2524-TP	p.S147S	T	TGGGGATTTCTTACATTGATG	NM_001009562	NP_001009562	21175884	Q71QF0	Q71QF0_HUMAN	0			4	441	+	C	C			Silent	147						
LST3	0	broad.mit.edu	GRCh37	12	21201718	21201718	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000421593.2:c.1067C>T	p.Ser356Phe	p.S356F	ENST00000421593	NM_001009562.4	356	tCt/tTt	0			1			T		uc010sin.1	protein_coding	YES				-/2247										0	c.(1066-1068)TCT>TTT				liver-specific organic anion transporter 3TM12				ENSP00000441269											COSM3398601		.		ENST00000540229	Transcript				membrane	transporter activity	ENSG00000257046	g.chr12:21201718C>T				MODIFIER	13/15	1.965	medium	getma.org/?cm=msa&ty=f&p=SO1B7_HUMAN&rb=201&re=400&var=S356F	NA	getma.org/?cm=var&var=hg19,12,21201718,C,T&fts=all	S356F	--	--	1																																		SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Missense_Mutation_p.S403F	1				p.S356F	NM_001009562	NP_001009562			1		LST3	Uniprot_gn	Q71QF0	Q71QF0_HUMAN			Q5JAR4_HUMAN,F5H8K0_HUMAN		8	1067	+			UPI00004A0698	356					SNV	LST3,missense_variant,p.Ser403Phe,ENST00000381541,;SLCO1B7,missense_variant,p.Ser403Phe,ENST00000554957,;SLCO1B7,missense_variant,p.Ser356Phe,ENST00000421593,NM_001009562.4;LST3,intron_variant,,ENST00000540229,;SLCO1B3,intron_variant,,ENST00000553473,;RP11-125O5.2,intron_variant,,ENST00000543498,;	uc010sin.1	c.1067C>T	-/2451	1	1			c.1067C>T						12	SNP	c.(1066-1068)TCT>TTT	9	9				0	Broad	liver-specific organic anion transporter 3TM12			21201718		0.353	ENSG00000257046	8897	g.chr12:21201718C>T		membrane	transporter activity							33.319951	KEEP	5	6	-1	8	8	5	6	-1	33.454366	8	8	0.423077	1	0	0	0	0	1	0	0	0	--	--		0	T			SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Missense_Mutation_p.S403F	207	GBM-28-1753-TP	p.S356F	C	TTCAAATTGTCTTTAGTTGGA	NM_001009562	NP_001009562	21201718	Q71QF0	Q71QF0_HUMAN	0			8	1067	+	T	T			Missense_Mutation	356						
LST3	0	broad.mit.edu	GRCh37	12	21201833	21201833	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-32-4213-01	TCGA-32-4213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000421593.2:c.1182C>A	p.Thr394=	p.T394=	ENST00000421593	NM_001009562.4	394	acC/acA	0			1			A		uc010sin.1	protein_coding	YES				-/2247										0	c.(1180-1182)ACC>ACA				liver-specific organic anion transporter 3TM12				ENSP00000441269											COSM3398602		.		ENST00000540229	Transcript				membrane	transporter activity	ENSG00000257046	g.chr12:21201833C>A				MODIFIER	13/15							--	--	1																																		SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Silent_p.T441T	1				p.T394T	NM_001009562	NP_001009562			1		LST3	Uniprot_gn	Q71QF0	Q71QF0_HUMAN			Q5JAR4_HUMAN,F5H8K0_HUMAN		8	1182	+			UPI00004A0698	394					SNV	LST3,synonymous_variant,p.=,ENST00000381541,;SLCO1B7,synonymous_variant,p.=,ENST00000554957,;SLCO1B7,synonymous_variant,p.=,ENST00000421593,NM_001009562.4;LST3,intron_variant,,ENST00000540229,;SLCO1B3,intron_variant,,ENST00000553473,;RP11-125O5.2,intron_variant,,ENST00000543498,;	uc010sin.1	c.1182C>A	-/2451	2	2			c.1182C>A						12	SNP	c.(1180-1182)ACC>ACA	29	29				0	Broad	liver-specific organic anion transporter 3TM12			21201833		0.318	ENSG00000257046	8897	g.chr12:21201833C>A		membrane	transporter activity							22.919351	KEEP	6	8	0.571428571	23	28	6	8	0.571428571	27.106208	23	28	0.2	1	0	0	0	0	0	0	1	0	--	--		0	A			SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Silent_p.T441T	247	GBM-32-4213-TP	p.T394T	C	TAACCTTGACCTATGATGGGT	NM_001009562	NP_001009562	21201833	Q71QF0	Q71QF0_HUMAN	0			8	1182	+	A	A			Silent	394						
LTA	0	broad.mit.edu	GRCh37	6	31540609	31540609	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-27-2521-01	TCGA-27-2521-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000454783.1:c.90T>C	p.Pro30=	p.P30=	ENST00000454783	NM_001159740.2	30	ccT/ccC	0			1			C	P	uc011dnu.1	protein_coding	YES	CCDS4701.1			90/618										0	c.(88-90)CCT>CCC			Prints_domain:PR01236,hmmpanther:PTHR11471,hmmpanther:PTHR11471:SF9,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	lymphotoxin alpha precursor	Etanercept(DB00005)			ENSP00000403495		4-Feb									COSM3410937	4-Feb	.		ENST00000454783	Transcript	1		cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding	ENSG00000226979	g.chr6:31540609T>C	6709			LOW								--	--	1																																		LTA_uc003nue.1_Silent_p.P30P|LTA_uc003nuf.2_5'Flank|LTA_uc003nuh.2_5'Flank|LTA_uc003nug.2_5'Flank|LTA_uc010jsr.2_5'Flank|TNF_uc003nui.2_5'Flank	1	1			p.P30P	NM_001159740	NP_001153212			1	TNFB_HUMAN	LTA	HGNC	P01374	TNFB_HUMAN			Q5STV3_HUMAN,Q6WQV6_HUMAN,Q45NE9_HUMAN		2	303	+			UPI000000D744	30					SNV	LTA,synonymous_variant,p.=,ENST00000454783,NM_001159740.2;LTA,synonymous_variant,p.=,ENST00000418386,NM_000595.3;TNF,upstream_gene_variant,,ENST00000449264,NM_000594.3;LTA,non_coding_transcript_exon_variant,,ENST00000471842,;LTA,non_coding_transcript_exon_variant,,ENST00000489638,;	uc011dnu.1	c.90T>C	348/1507	4	4			c.90T>C						6	SNP	c.(88-90)CCT>CCC	47	47				0	Broad	lymphotoxin alpha precursor		Etanercept(DB00005)	31540609		0.632	ENSG00000226979	8899	g.chr6:31540609T>C	cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding							-13.381288	KEEP	0	4	-1	47	57	0	4	-1	7.734396	47	57	0.042553	1	0	0	0	0	0	0	1	0	--	--		0	C			LTA_uc003nue.1_Silent_p.P30P|LTA_uc003nuf.2_5'Flank|LTA_uc003nuh.2_5'Flank|LTA_uc003nug.2_5'Flank|LTA_uc010jsr.2_5'Flank|TNF_uc003nui.2_5'Flank	200	GBM-27-2521-TP	p.P30P	T	TTCTGCTGCCTGGGGCCCAGG	NM_001159740	NP_001153212	31540609	P01374	TNFB_HUMAN	0			2	303	+	C	C			Silent	30						
LTB4R2	56413		GRCh37	14	24779987	24779987	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000528054.1:c.210C>A	p.Gly70=	p.G70=	ENST00000528054		70	ggC/ggA	0																																																																																																																																																																																																																																												
LTBP2	4053	broad.mit.edu	GRCh37	14	74970199	74970199	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261978.4:c.4693C>T	p.Arg1565Cys	p.R1565C	ENST00000261978	NM_000428.2	1565	Cgc/Tgc	0			1			A	R/C	uc001xqa.2	protein_coding	YES	CCDS9831.1			4693/5466									liver(1)|skin(1)	2	c.(4693-4695)CGC>TGC			Gene3D:2.10.25.10,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF40,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196	latent transforming growth factor beta binding				ENSP00000261978		32/36	8.24E-06							6.52E-05	rs750269632,COSM1214074	32/36	.		ENST00000261978	Transcript	1		protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	ENSG00000119681	g.chr14:74970199G>A	6715			MODERATE		2.195	medium	getma.org/?cm=msa&ty=f&p=LTBP2_HUMAN&rb=1528&re=1566&var=R1565C	getma.org/pdb.php?prot=LTBP2_HUMAN&from=1528&to=1566&var=R1565C	getma.org/?cm=var&var=hg19,14,74970199,G,A&fts=all	R1565C	--	--	1																																			0,1	1		probably_damaging(0.97)	p.R1565C	NM_000428	NP_000419		deleterious(0)	0,1	LTBP2_HUMAN	LTBP2	HGNC	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	G3V254_HUMAN		32	5080	-			UPI000013D239	1565			EGF-like 18; calcium-binding (Potential).		SNV	LTBP2,missense_variant,p.Arg1565Cys,ENST00000261978,NM_000428.2;LTBP2,missense_variant,p.Arg1521Cys,ENST00000556690,;LTBP2,downstream_gene_variant,,ENST00000556206,;LTBP2,missense_variant,p.Arg1565Cys,ENST00000553939,;LTBP2,upstream_gene_variant,,ENST00000554861,;	uc001xqa.2	c.4693C>T	5080/8567	1	1			c.4693C>T						14	SNP	c.(4693-4695)CGC>TGC	56	56			liver(1)|skin(1)	2	Broad	latent transforming growth factor beta binding			74970199		0.672	ENSG00000119681	8905	g.chr14:74970199G>A	protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding							39.940184	KEEP	11	4	-1	16	11	11	4	-1	40.518399	16	11	0.368421	1	0	0	0	0	1	0	0	0	--	--		0	A				46	GBM-06-0209-TP	p.R1565C	G	TTCATGCAGCGCTGCTGGCTG	NM_000428	NP_000419	74970199	Q14767	LTBP2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	32	5080	-	A	A			Missense_Mutation	1565			EGF-like 18; calcium-binding (Potential).			
LTBP2	4053	broad.mit.edu	GRCh37	14	75017917	75017917	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261978.4:c.1536G>A	p.Pro512=	p.P512=	ENST00000261978	NM_000428.2	512	ccG/ccA	0	T:0		1			T	P	uc001xqa.2	protein_coding	YES	CCDS9831.1			1536/5466									liver(1)|skin(1)	2	c.(1534-1536)CCG>CCA			hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF40	latent transforming growth factor beta binding			T:0.0001	ENSP00000261978		Jul-36	1.65E-05					1.59E-05		6.25E-05	rs371191837,COSM553744	Jul-36	.		ENST00000261978	Transcript	1		protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	ENSG00000119681	g.chr14:75017917C>T	6715			LOW								--	--	1																																			0,1	1			p.P512P	NM_000428	NP_000419			0,1	LTBP2_HUMAN	LTBP2	HGNC	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	G3V254_HUMAN		7	1923	-			UPI000013D239	512					SNV	LTBP2,synonymous_variant,p.=,ENST00000261978,NM_000428.2;LTBP2,synonymous_variant,p.=,ENST00000556690,;LTBP2,intron_variant,,ENST00000556359,;CTD-2207P18.1,upstream_gene_variant,,ENST00000554552,;LTBP2,non_coding_transcript_exon_variant,,ENST00000557425,;LTBP2,synonymous_variant,p.=,ENST00000553939,;	uc001xqa.2	c.1536G>A	1923/8567	1	1			c.1536G>A						14	SNP	c.(1534-1536)CCG>CCA	16	16			liver(1)|skin(1)	2	Broad	latent transforming growth factor beta binding			75017917		0.701	ENSG00000119681	8905	g.chr14:75017917C>T	protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding							24.89582	KEEP	5	8	-1	15	7	5	8	-1	25.432806	15	7	0.363636	1	0	0	0	0	0	0	1	0	--	--		0	T				62	GBM-06-0649-TP	p.P512P	C	GCAGCCAGGGCGGGGGTCTGG	NM_000428	NP_000419	75017917	Q14767	LTBP2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	7	1923	-	T	T			Silent	512						
LTBP2	0	broad.mit.edu	GRCh37	14	74974771	74974771	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-5133-01	TCGA-26-5133-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261978.4:c.3680C>T	p.Pro1227Leu	p.P1227L	ENST00000261978	NM_000428.2	1227	cCg/cTg	0			1			A	P/L	uc001xqa.2	protein_coding	YES	CCDS9831.1			3680/5466									liver(1)|skin(1)	2	c.(3679-3681)CCG>CTG			Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF40,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184	latent transforming growth factor beta binding				ENSP00000261978		25/36	8.24E-06							6.11E-05	rs773766117,COSM2156970	25/36	.		ENST00000261978	Transcript	1		protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	ENSG00000119681	g.chr14:74974771G>A	6715			MODERATE		1.3	low	getma.org/?cm=msa&ty=f&p=LTBP2_HUMAN&rb=1218&re=1257&var=P1227L	getma.org/pdb.php?prot=LTBP2_HUMAN&from=1218&to=1257&var=P1227L	getma.org/?cm=var&var=hg19,14,74974771,G,A&fts=all	P1227L	--	--	1																																			0,1	1		benign(0.01)	p.P1227L	NM_000428	NP_000419		tolerated(0.78)	0,1	LTBP2_HUMAN	LTBP2	HGNC	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	G3V254_HUMAN		25	4067	-			UPI000013D239	1227			EGF-like 13; calcium-binding (Potential).|Cys-rich.		SNV	LTBP2,missense_variant,p.Pro1227Leu,ENST00000261978,NM_000428.2;LTBP2,missense_variant,p.Pro1227Leu,ENST00000556690,;LTBP2,intron_variant,,ENST00000556206,;LTBP2,missense_variant,p.Pro1227Leu,ENST00000553939,;	uc001xqa.2	c.3680C>T	4067/8567	2	2			c.3680C>T						14	SNP	c.(3679-3681)CCG>CTG	35	35			liver(1)|skin(1)	2	Broad	latent transforming growth factor beta binding			74974771		0.582	ENSG00000119681	8905	g.chr14:74974771G>A	protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding							142.37113	KEEP	26	19	-1	7	13	26	19	-1	144.516713	7	13	0.7	1	0	0	0	0	1	0	0	0	--	--		0	A				182	GBM-26-5133-TP	p.P1227L	G	TCCCACACACGGGTCTGTGGT	NM_000428	NP_000419	74974771	Q14767	LTBP2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	25	4067	-	A	A			Missense_Mutation	1227			EGF-like 13; calcium-binding (Potential).|Cys-rich.			
LTBP2	0	broad.mit.edu	GRCh37	14	74991895	74991895	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-27-1835-01	TCGA-27-1835-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261978.4:c.2462G>C	p.Gly821Ala	p.G821A	ENST00000261978	NM_000428.2	821	gGg/gCg	0			1			G	G/A	uc001xqa.2	protein_coding	YES	CCDS9831.1			2462/5466									liver(1)|skin(1)	2	c.(2461-2463)GGG>GCG			hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF40	latent transforming growth factor beta binding				ENSP00000261978		15/36									COSM2157227	15/36	.		ENST00000261978	Transcript	1		protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	ENSG00000119681	g.chr14:74991895C>G	6715			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=LTBP2_HUMAN&rb=724&re=843&var=G821A	NA	getma.org/?cm=var&var=hg19,14,74991895,C,G&fts=all	G821A	--	--	1																																			1	1		benign(0.08)	p.G821A	NM_000428	NP_000419		tolerated(0.8)	1	LTBP2_HUMAN	LTBP2	HGNC	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	G3V254_HUMAN		15	2849	-			UPI000013D239	821					SNV	LTBP2,missense_variant,p.Gly821Ala,ENST00000261978,NM_000428.2;LTBP2,missense_variant,p.Gly821Ala,ENST00000556690,;LTBP2,downstream_gene_variant,,ENST00000556359,;LTBP2,missense_variant,p.Gly821Ala,ENST00000553939,;	uc001xqa.2	c.2462G>C	2849/8567	3	3			c.2462G>C						14	SNP	c.(2461-2463)GGG>GCG	60	60			liver(1)|skin(1)	2	Broad	latent transforming growth factor beta binding			74991895		0.612	ENSG00000119681	8905	g.chr14:74991895C>G	protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding							166.844709	KEEP	28	31	-1	41	32	28	31	-1	167.26818	41	32	0.434783	1	0	0	0	0	1	0	0	0	--	--		0	G				194	GBM-27-1835-TP	p.G821A	C	CTCTGCAATCCCCTGTTCAGG	NM_000428	NP_000419	74991895	Q14767	LTBP2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	15	2849	-	G	G			Missense_Mutation	821						
LTBP2	0	broad.mit.edu	GRCh37	14	74992813	74992813	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261978.4:c.2393C>T	p.Thr798Met	p.T798M	ENST00000261978	NM_000428.2	798	aCg/aTg	0		A:0	1	A:0		A	T/M	uc001xqa.2	protein_coding	YES	CCDS9831.1			2393/5466									liver(1)|skin(1)	2	c.(2392-2394)ACG>ATG			hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF40	latent transforming growth factor beta binding		A:0		ENSP00000261978	A:0	14/36	1.65E-05							0.000182	rs551341275,COSM3401466	14/36	.		ENST00000261978	Transcript	1	A:0.0000	protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	ENSG00000119681	g.chr14:74992813G>A	6715			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=LTBP2_HUMAN&rb=724&re=843&var=T798M	NA	getma.org/?cm=var&var=hg19,14,74992813,G,A&fts=all	T798M	--	--	1																																			0,1	1		benign(0.028)	p.T798M	NM_000428	NP_000419	A:0	tolerated(0.06)	0,1	LTBP2_HUMAN	LTBP2	HGNC	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	G3V254_HUMAN		14	2780	-			UPI000013D239	798					SNV	LTBP2,missense_variant,p.Thr798Met,ENST00000261978,NM_000428.2;LTBP2,missense_variant,p.Thr798Met,ENST00000556690,;LTBP2,missense_variant,p.Thr58Met,ENST00000556359,;LTBP2,missense_variant,p.Thr798Met,ENST00000553939,;	uc001xqa.2	c.2393C>T	2780/8567	1	1			c.2393C>T						14	SNP	c.(2392-2394)ACG>ATG	62	62			liver(1)|skin(1)	2	Broad	latent transforming growth factor beta binding			74992813		0.577	ENSG00000119681	8905	g.chr14:74992813G>A	protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding							15.739195	KEEP	5	2	-1	9	9	5	2	-1	16.929831	9	9	0.26087	1	0	0	0	0	1	0	0	0	--	--		0	A				240	GBM-32-2632-TP	p.T798M	G	GACACTGGTCGTGACCTGCAC	NM_000428	NP_000419	74992813	Q14767	LTBP2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	14	2780	-	A	A			Missense_Mutation	798						
LTBP2	0	broad.mit.edu	GRCh37	14	74971518	74971518	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-5651-01	TCGA-41-5651-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261978.4:c.4416G>A	p.Val1472=	p.V1472=	ENST00000261978	NM_000428.2	1472	gtG/gtA	0			1			T	V	uc001xqa.2	protein_coding	YES	CCDS9831.1			4416/5466									liver(1)|skin(1)	2	c.(4414-4416)GTG>GTA			hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF40	latent transforming growth factor beta binding				ENSP00000261978		30/36									COSM3401465	30/36	.		ENST00000261978	Transcript	1		protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	ENSG00000119681	g.chr14:74971518C>T	6715			LOW								--	--	1																																			1	1			p.V1472V	NM_000428	NP_000419			1	LTBP2_HUMAN	LTBP2	HGNC	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	G3V254_HUMAN		30	4803	-			UPI000013D239	1472					SNV	LTBP2,synonymous_variant,p.=,ENST00000261978,NM_000428.2;LTBP2,synonymous_variant,p.=,ENST00000556690,;LTBP2,downstream_gene_variant,,ENST00000556206,;LTBP2,synonymous_variant,p.=,ENST00000553939,;LTBP2,upstream_gene_variant,,ENST00000554861,;	uc001xqa.2	c.4416G>A	4803/8567	2	2			c.4416G>A						14	SNP	c.(4414-4416)GTG>GTA	21	21			liver(1)|skin(1)	2	Broad	latent transforming growth factor beta binding			74971518		0.562	ENSG00000119681	8905	g.chr14:74971518C>T	protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding							71.658626	KEEP	14	13	-1	15	29	14	13	-1	72.093028	15	29	0.409836	1	0	0	0	0	0	0	1	0	--	--		0	T				258	GBM-41-5651-TP	p.V1472V	C	AGGCTCCTTCCACAGGAATGT	NM_000428	NP_000419	74971518	Q14767	LTBP2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	30	4803	-	T	T			Silent	1472						
LTBP4	0	broad.mit.edu	GRCh37	19	41129963	41129963	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-6285-01	TCGA-76-6285-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308370.7:c.4006G>C	p.Val1336Leu	p.V1336L	ENST00000308370	NM_001042544.1	1336	Gtc/Ctc	0			1			C	V/L	uc002ooh.1	protein_coding	YES				4006/4872									central_nervous_system(1)	1	c.(4009-4011)GTC>CTC			Superfamily_domains:SSF57196,SMART_domains:SM00181,SMART_domains:SM00179,Gene3D:2.10.25.10,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF41,PROSITE_profiles:PS50026	latent transforming growth factor beta binding				ENSP00000311905		30/34									COSM3404245,COSM3404244	30/34	.		ENST00000308370	Transcript	1		growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	ENSG00000090006	g.chr19:41129963G>C	6717			MODERATE								--	--	1																																		LTBP4_uc002oog.1_Missense_Mutation_p.V1300L|LTBP4_uc002ooi.1_Missense_Mutation_p.V1270L|LTBP4_uc002ooj.1_Missense_Mutation_p.V210L|LTBP4_uc002ook.1_Missense_Mutation_p.V471L|LTBP4_uc002ool.1_Missense_Mutation_p.V349L|LTBP4_uc010xvp.1_Missense_Mutation_p.V97L	1,1	1		benign(0.44)	p.V1337L	NM_001042544	NP_001036009		deleterious(0.01)	1,1	LTBP4_HUMAN	LTBP4	HGNC	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)				30	4009	+			UPI000179A7A0	1337			EGF-like 14; calcium-binding (Potential).		SNV	LTBP4,missense_variant,p.Val1336Leu,ENST00000308370,NM_001042544.1;LTBP4,missense_variant,p.Val1299Leu,ENST00000204005,NM_003573.2;LTBP4,missense_variant,p.Val1269Leu,ENST00000396819,NM_001042545.1;LTBP4,missense_variant,p.Val704Leu,ENST00000545697,;LTBP4,missense_variant,p.Val483Leu,ENST00000601032,;LTBP4,missense_variant,p.Val246Leu,ENST00000599724,;LTBP4,3_prime_UTR_variant,,ENST00000243562,;LTBP4,downstream_gene_variant,,ENST00000597071,;LTBP4,downstream_gene_variant,,ENST00000593463,;LTBP4,non_coding_transcript_exon_variant,,ENST00000602240,;LTBP4,non_coding_transcript_exon_variant,,ENST00000600509,;LTBP4,non_coding_transcript_exon_variant,,ENST00000601209,;LTBP4,non_coding_transcript_exon_variant,,ENST00000598677,;LTBP4,upstream_gene_variant,,ENST00000598166,;LTBP4,downstream_gene_variant,,ENST00000601560,;LTBP4,downstream_gene_variant,,ENST00000595183,;LTBP4,downstream_gene_variant,,ENST00000597603,;LTBP4,upstream_gene_variant,,ENST00000599225,;LTBP4,non_coding_transcript_exon_variant,,ENST00000595118,;LTBP4,non_coding_transcript_exon_variant,,ENST00000318809,;LTBP4,non_coding_transcript_exon_variant,,ENST00000597151,;LTBP4,downstream_gene_variant,,ENST00000594266,;LTBP4,downstream_gene_variant,,ENST00000597816,;LTBP4,downstream_gene_variant,,ENST00000595767,;LTBP4,downstream_gene_variant,,ENST00000600499,;LTBP4,downstream_gene_variant,,ENST00000594457,;LTBP4,downstream_gene_variant,,ENST00000595665,;LTBP4,downstream_gene_variant,,ENST00000594448,;LTBP4,downstream_gene_variant,,ENST00000593614,;LTBP4,downstream_gene_variant,,ENST00000596351,;LTBP4,downstream_gene_variant,,ENST00000598178,;LTBP4,downstream_gene_variant,,ENST00000594116,;	uc002ooh.1	c.4009G>C	4006/5142	3	3			c.4009G>C						19	SNP	c.(4009-4011)GTC>CTC	63	63			central_nervous_system(1)	1	Broad	latent transforming growth factor beta binding			41129963		0.682	ENSG00000090006	8907	g.chr19:41129963G>C	growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity							26.928147	KEEP	4	4	-1	1	3	4	4	-1	27.108057	1	3	0.636364	1	0	0	0	0	1	0	0	0	--	--		0	C			LTBP4_uc002oog.1_Missense_Mutation_p.V1300L|LTBP4_uc002ooi.1_Missense_Mutation_p.V1270L|LTBP4_uc002ooj.1_Missense_Mutation_p.V210L|LTBP4_uc002ook.1_Missense_Mutation_p.V471L|LTBP4_uc002ool.1_Missense_Mutation_p.V349L|LTBP4_uc010xvp.1_Missense_Mutation_p.V97L	280	GBM-76-6285-TP	p.V1337L	G	GCGCCGCTGCGTCTCCAACGA	NM_001042544	NP_001036009	41129963	Q8N2S1	LTBP4_HUMAN	0	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		30	4009	+	C	C			Missense_Mutation	1337			EGF-like 14; calcium-binding (Potential).			
LTBP4	0	broad.mit.edu	GRCh37	19	41133127	41133127	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-87-5896-01	TCGA-87-5896-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308370.7:c.4431C>T	p.Asp1477=	p.D1477=	ENST00000308370	NM_001042544.1	1477	gaC/gaT	0			1			T	D	uc002ooh.1	protein_coding	YES				4431/4872									central_nervous_system(1)	1	c.(4432-4434)GAC>GAT			hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF41	latent transforming growth factor beta binding				ENSP00000311905		32/34	8.29E-06					2.42E-05			rs766181550,COSM3404247,COSM3404246	32/34	.		ENST00000308370	Transcript	1		growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	ENSG00000090006	g.chr19:41133127C>T	6717			LOW								--	--	1																																		LTBP4_uc002oog.1_Silent_p.D1441D|LTBP4_uc002ooi.1_Silent_p.D1411D|LTBP4_uc002ooj.1_Silent_p.D351D|LTBP4_uc002ook.1_Silent_p.D612D|LTBP4_uc002ool.1_Silent_p.D490D|LTBP4_uc010xvp.1_Silent_p.D238D	0,1,1	1			p.D1478D	NM_001042544	NP_001036009			0,1,1	LTBP4_HUMAN	LTBP4	HGNC	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)				32	4434	+			UPI000179A7A0	1478			Pro-rich.		SNV	LTBP4,synonymous_variant,p.=,ENST00000308370,NM_001042544.1;LTBP4,synonymous_variant,p.=,ENST00000204005,NM_003573.2;LTBP4,synonymous_variant,p.=,ENST00000396819,NM_001042545.1;LTBP4,synonymous_variant,p.=,ENST00000545697,;LTBP4,synonymous_variant,p.=,ENST00000601032,;LTBP4,3_prime_UTR_variant,,ENST00000243562,;LTBP4,downstream_gene_variant,,ENST00000599724,;LTBP4,downstream_gene_variant,,ENST00000597071,;LTBP4,downstream_gene_variant,,ENST00000593463,;LTBP4,non_coding_transcript_exon_variant,,ENST00000602240,;LTBP4,non_coding_transcript_exon_variant,,ENST00000600509,;LTBP4,non_coding_transcript_exon_variant,,ENST00000601209,;LTBP4,non_coding_transcript_exon_variant,,ENST00000598677,;LTBP4,non_coding_transcript_exon_variant,,ENST00000599225,;LTBP4,upstream_gene_variant,,ENST00000598166,;LTBP4,downstream_gene_variant,,ENST00000595183,;LTBP4,downstream_gene_variant,,ENST00000597603,;LTBP4,non_coding_transcript_exon_variant,,ENST00000595118,;LTBP4,non_coding_transcript_exon_variant,,ENST00000318809,;LTBP4,downstream_gene_variant,,ENST00000594266,;LTBP4,downstream_gene_variant,,ENST00000597816,;LTBP4,downstream_gene_variant,,ENST00000595767,;LTBP4,downstream_gene_variant,,ENST00000595665,;LTBP4,downstream_gene_variant,,ENST00000594448,;LTBP4,downstream_gene_variant,,ENST00000596351,;LTBP4,downstream_gene_variant,,ENST00000598178,;LTBP4,downstream_gene_variant,,ENST00000594116,;LTBP4,downstream_gene_variant,,ENST00000597151,;	uc002ooh.1	c.4434C>T	4431/5142	2	2			c.4434C>T						19	SNP	c.(4432-4434)GAC>GAT	17	17			central_nervous_system(1)	1	Broad	latent transforming growth factor beta binding			41133127		0.701	ENSG00000090006	8907	g.chr19:41133127C>T	growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity							9.023677	KEEP	1	2	-1	4	3	1	2	-1	9.133162	4	3	0.375	1	0	0	0	0	0	0	1	0	--	--		0	T			LTBP4_uc002oog.1_Silent_p.D1441D|LTBP4_uc002ooi.1_Silent_p.D1411D|LTBP4_uc002ooj.1_Silent_p.D351D|LTBP4_uc002ook.1_Silent_p.D612D|LTBP4_uc002ool.1_Silent_p.D490D|LTBP4_uc010xvp.1_Silent_p.D238D	291	GBM-87-5896-TP	p.D1478D	C	ACTTTGAGGACGATGGTGGCC	NM_001042544	NP_001036009	41133127	Q8N2S1	LTBP4_HUMAN	0	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		32	4434	+	T	T			Silent	1478			Pro-rich.			
LTF	4057	broad.mit.edu	GRCh37	3	46490484	46490484	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01	TCGA-06-0645-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000231751.4:c.1082G>A	p.Arg361His	p.R361H	ENST00000231751	NM_002343.3	361	cGt/cAt	0		T:0.0008	1	T:0		T	R/H	uc003cpq.2	protein_coding	YES	CCDS33747.1			1082/2133									central_nervous_system(2)|ovary(1)|lung(1)	4	c.(1081-1083)CGT>CAT			Low_complexity_(Seg):seg,hmmpanther:PTHR11485:SF21,hmmpanther:PTHR11485,SMART_domains:SM00094,PIRSF_domain:PIRSF002549,PIRSF_domain:PIRSF500683,Superfamily_domains:SSF53850	lactotransferrin precursor	Pefloxacin(DB00487)	T:0		ENSP00000231751	T:0	17-Sep	0.000107	0.000106	8.82E-05			3.17E-05		0.00057	rs563611764,COSM3068182	17-Sep	common_variant		ENST00000231751	Transcript	1	T:0.0002	cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	ENSG00000012223	g.chr3:46490484C>T	6720			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=TRFL_HUMAN&rb=323&re=393&var=R361H	getma.org/pdb.php?prot=TRFL_HUMAN&from=353&to=363&var=R361H	getma.org/?cm=var&var=hg19,3,46490484,C,T&fts=all	R361H	--	--	1																																		LTF_uc003fzr.2_Missense_Mutation_p.R317H|LTF_uc010hjh.2_Missense_Mutation_p.R361H|LTF_uc003cpr.2_Missense_Mutation_p.R348H	0,1	1		benign(0.088)	p.R361H	NM_002343	NP_002334	T:0	tolerated(0.11)	0,1	TRFL_HUMAN	LTF	HGNC	P02788	TRFL_HUMAN		all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	C9J0S5_HUMAN,A8K9U8_HUMAN		9	1120	-			UPI000016ABE3	361					SNV	LTF,missense_variant,p.Arg361His,ENST00000231751,NM_002343.3;LTF,missense_variant,p.Arg348His,ENST00000443496,;LTF,missense_variant,p.Arg317His,ENST00000426532,NM_001199149.1;LTF,missense_variant,p.Arg361His,ENST00000417439,;LTF,intron_variant,,ENST00000478874,;	uc003cpq.2	c.1082G>A	1378/2979	1	1			c.1082G>A						3	SNP	c.(1081-1083)CGT>CAT	8	8			central_nervous_system(2)|ovary(1)|lung(1)	4	Broad	lactotransferrin precursor		Pefloxacin(DB00487)	46490484		0.667	ENSG00000012223	8910	g.chr3:46490484C>T	cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity							2.804671	KEEP	2	2	-1	17	16	2	2	-1	7.092399	17	16	0.107143	1	0	0	0	0	1	0	0	0	--	--		0	T			LTF_uc003fzr.2_Missense_Mutation_p.R317H|LTF_uc010hjh.2_Missense_Mutation_p.R361H|LTF_uc003cpr.2_Missense_Mutation_p.R348H	59	GBM-06-0645-TP	p.R361H	C	GACCCGCGCACGCCGGGCAGC	NM_002343	NP_002334	46490484	P02788	TRFL_HUMAN	0		all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	9	1120	-	T	T			Missense_Mutation	361						
LTN1	26046	broad.mit.edu	GRCh37	21	30354691	30354691	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T			TCGA-06-0184-01	TCGA-06-0184-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389194.2:c.715-1G>A		p.X239_splice	ENST00000389194	NM_015565.2	239		0			1			T		uc002ymr.2	protein_coding					577/5301										0	c.e5-1				zinc finger protein 294				ENSP00000354977											COSM2150484		.		ENST00000361371	Transcript					ligase activity|zinc ion binding	ENSG00000198862	g.chr21:30354691C>T	13082			HIGH	29-Apr							--	--	1																																		RNF160_uc010gll.1_Splice_Site	1				p.V239_splice	NM_015565	NP_056380			1	LTN1_HUMAN	LTN1	HGNC	O94822	LTN1_HUMAN			G1UI34_HUMAN		5	728	-			UPI00001A95E0						SNV	LTN1,splice_acceptor_variant,,ENST00000389194,NM_015565.2;LTN1,splice_acceptor_variant,,ENST00000361371,;LTN1,splice_acceptor_variant,,ENST00000389195,;LTN1,splice_acceptor_variant,,ENST00000483326,;	uc002ymr.2	c.715_splice	-/7685	5	2			c.715_splice						21	SNP	c.e5-1	48	48				0	Broad	zinc finger protein 294			30354691		0.378	ENSG00000198862	13237	g.chr21:30354691C>T			ligase activity|zinc ion binding							92.039646	KEEP	17	21	-1	44	64	17	21	-1	98.617498	44	64	0.258065	1	0	0	0	0	0	0	0	1	--	--		0	T			RNF160_uc010gll.1_Splice_Site	39	GBM-06-0184-TP	p.V239_splice	C	CCTGCAGCACCTACAAAGGGG	NM_015565	NP_056380	30354691	O94822	LTN1_HUMAN	0			5	728	-	T	T			Splice_Site							
LTN1	0	broad.mit.edu	GRCh37	21	30359239	30359239	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01	TCGA-32-2632-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361371.5:c.59G>A	p.Arg20Gln	p.R20Q	ENST00000361371		20	cGa/cAa	0	T:0		1			T	R/Q	uc002ymr.2	protein_coding					59/5301										0	c.(196-198)CGA>CAA			hmmpanther:PTHR12389	zinc finger protein 294			T:0.0002	ENSP00000354977		Feb-30	1.65E-05					3.04E-05			rs375416726,COSM3405333	Feb-30	.		ENST00000361371	Transcript					ligase activity|zinc ion binding	ENSG00000198862	g.chr21:30359239C>T	13082			MODERATE		2.67	medium	getma.org/?cm=msa&ty=f&p=LTN1_HUMAN&rb=1&re=200&var=R20Q	NA	getma.org/?cm=var&var=hg19,21,30359239,C,T&fts=all	R20Q	--	--	1																																		RNF160_uc010gll.1_RNA	0,1			probably_damaging(0.999)	p.R66Q	NM_015565	NP_056380		deleterious(0.02)	0,1	LTN1_HUMAN	LTN1	HGNC	O94822	LTN1_HUMAN			G1UI34_HUMAN		2	210	-			UPI00001A95E0	20					SNV	LTN1,missense_variant,p.Arg66Gln,ENST00000389194,NM_015565.2;LTN1,missense_variant,p.Arg20Gln,ENST00000361371,;LTN1,missense_variant,p.Arg66Gln,ENST00000389195,;LTN1,upstream_gene_variant,,ENST00000483326,;	uc002ymr.2	c.197G>A	139/7685	2	2			c.197G>A						21	SNP	c.(196-198)CGA>CAA	46	46				0	Broad	zinc finger protein 294			30359239		0.433	ENSG00000198862	13237	g.chr21:30359239C>T			ligase activity|zinc ion binding							15.32649	KEEP	5	8	-1	56	45	5	8	-1	30.230974	56	45	0.116505	1	0	0	0	0	1	0	0	0	--	--		0	T			RNF160_uc010gll.1_RNA	240	GBM-32-2632-TP	p.R66Q	C	TTCTGCAGCTCGGCCACTGTT	NM_015565	NP_056380	30359239	O94822	LTN1_HUMAN	0			2	210	-	T	T			Missense_Mutation	20						
LUM	4060	broad.mit.edu	GRCh37	12	91497971	91497971	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0126-01	TCGA-06-0126-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266718.4:c.988C>T	p.Arg330Cys	p.R330C	ENST00000266718	NM_002345.3	330	Cgt/Tgt	0			1			A	R/C	uc001tbm.2	protein_coding	YES	CCDS9038.1			988/1017									central_nervous_system(2)	2	c.(988-990)CGT>TGT			hmmpanther:PTHR24371,hmmpanther:PTHR24371:SF54,Superfamily_domains:SSF52058	lumican precursor				ENSP00000266718		3-Mar	8.24E-06					1.50E-05			rs777345268,COSM2044955	3-Mar	.		ENST00000266718	Transcript			collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	ENSG00000139329	g.chr12:91497971G>A	6724			MODERATE		2.415	medium	getma.org/?cm=msa&ty=f&p=LUM_HUMAN&rb=267&re=338&var=R330C	NA	getma.org/?cm=var&var=hg19,12,91497971,G,A&fts=all	R330C	--	--	1																																		LUM_uc001tbn.2_RNA	0,1	1		possibly_damaging(0.714)	p.R330C	NM_002345	NP_002336		deleterious(0.01)	0,1	LUM_HUMAN	LUM	HGNC	P51884	LUM_HUMAN					3	1377	-			UPI0000001C4D	330					SNV	LUM,missense_variant,p.Arg330Cys,ENST00000266718,NM_002345.3;LUM,non_coding_transcript_exon_variant,,ENST00000548071,;LUM,non_coding_transcript_exon_variant,,ENST00000546642,;	uc001tbm.2	c.988C>T	1443/3008	2	2			c.988C>T						12	SNP	c.(988-990)CGT>TGT	30	30			central_nervous_system(2)	2	Broad	lumican precursor			91497971		0.383	ENSG00000139329	8916	g.chr12:91497971G>A	collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent							87.626755	KEEP	23	13	-1	36	23	23	13	-1	89.136641	36	23	0.357143	1	0	0	0	0	1	0	0	0	--	--		0	A			LUM_uc001tbn.2_RNA	13	GBM-06-0126-TP	p.R330C	G	TTAGCAACACGTAGACATTCA	NM_002345	NP_002336	91497971	P51884	LUM_HUMAN	0			3	1377	-	A	A			Missense_Mutation	330						
LUM	4060	broad.mit.edu	GRCh37	12	91502375	91502375	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0145-01	TCGA-06-0145-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266718.4:c.382C>A	p.Leu128Met	p.L128M	ENST00000266718	NM_002345.3	128	Ctg/Atg	0			1			T	L/M	uc001tbm.2	protein_coding	YES	CCDS9038.1			382/1017								p.L128M(1)	central_nervous_system(2)	2	c.(382-384)CTG>ATG			Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24371,hmmpanther:PTHR24371:SF54,SMART_domains:SM00369,Superfamily_domains:SSF52058	lumican precursor				ENSP00000266718		3-Feb									COSM43051	3-Feb	.		ENST00000266718	Transcript			collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	ENSG00000139329	g.chr12:91502375G>T	6724			MODERATE		3.07	medium	getma.org/?cm=msa&ty=f&p=LUM_HUMAN&rb=67&re=128&var=L128M	getma.org/pdb.php?prot=LUM_HUMAN&from=67&to=128&var=L128M	getma.org/?cm=var&var=hg19,12,91502375,G,T&fts=all	L128M	--	--	1																																		LUM_uc001tbn.2_Intron	1	1		probably_damaging(0.988)	p.L128M	NM_002345	NP_002336		deleterious(0)	1	LUM_HUMAN	LUM	HGNC	P51884	LUM_HUMAN					2	771	-			UPI0000001C4D	128			LRR 3.		SNV	LUM,missense_variant,p.Leu128Met,ENST00000266718,NM_002345.3;LUM,non_coding_transcript_exon_variant,,ENST00000546642,;LUM,intron_variant,,ENST00000548071,;	uc001tbm.2	c.382C>A	837/3008	2	2			c.382C>A						12	SNP	c.(382-384)CTG>ATG	32	32		p.L128M(1)	central_nervous_system(2)	2	Broad	lumican precursor			91502375		0.418	ENSG00000139329	8916	g.chr12:91502375G>T	collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent							189.353441	KEEP	36	34	0.514285714	56	37	36	34	0.514285714	189.911731	56	37	0.432624	1	0	0	0	0	1	0	0	0	--	--		0	T			LUM_uc001tbn.2_Intron	23	GBM-06-0145-TP	p.L128M	G	GACTCTGTCAGGTTGTTGTGG	NM_002345	NP_002336	91502375	P51884	LUM_HUMAN	0			2	771	-	T	T			Missense_Mutation	128			LRR 3.			
LUM	0	broad.mit.edu	GRCh37	12	91497971	91497971	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2524-01	TCGA-27-2524-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266718.4:c.988C>T	p.Arg330Cys	p.R330C	ENST00000266718	NM_002345.3	330	Cgt/Tgt	0			1			A	R/C	uc001tbm.2	protein_coding	YES	CCDS9038.1			988/1017									central_nervous_system(2)	2	c.(988-990)CGT>TGT			hmmpanther:PTHR24371,hmmpanther:PTHR24371:SF54,Superfamily_domains:SSF52058	lumican precursor				ENSP00000266718		3-Mar	8.24E-06					1.50E-05			rs777345268,COSM2044955	3-Mar	.		ENST00000266718	Transcript			collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	ENSG00000139329	g.chr12:91497971G>A	6724			MODERATE		2.415	medium	getma.org/?cm=msa&ty=f&p=LUM_HUMAN&rb=267&re=338&var=R330C	NA	getma.org/?cm=var&var=hg19,12,91497971,G,A&fts=all	R330C	--	--	1																																		LUM_uc001tbn.2_RNA	0,1	1		possibly_damaging(0.714)	p.R330C	NM_002345	NP_002336		deleterious(0.01)	0,1	LUM_HUMAN	LUM	HGNC	P51884	LUM_HUMAN					3	1377	-			UPI0000001C4D	330					SNV	LUM,missense_variant,p.Arg330Cys,ENST00000266718,NM_002345.3;LUM,non_coding_transcript_exon_variant,,ENST00000548071,;LUM,non_coding_transcript_exon_variant,,ENST00000546642,;	uc001tbm.2	c.988C>T	1443/3008	2	2			c.988C>T						12	SNP	c.(988-990)CGT>TGT	30	30			central_nervous_system(2)	2	Broad	lumican precursor			91497971		0.383	ENSG00000139329	8916	g.chr12:91497971G>A	collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent							108.677022	KEEP	17	26	-1	52	53	17	26	-1	113.764435	52	53	0.293233	1	0	0	0	0	1	0	0	0	--	--		0	A			LUM_uc001tbn.2_RNA	202	GBM-27-2524-TP	p.R330C	G	TTAGCAACACGTAGACATTCA	NM_002345	NP_002336	91497971	P51884	LUM_HUMAN	0			3	1377	-	A	A			Missense_Mutation	330						
LUM	0	broad.mit.edu	GRCh37	12	91498030	91498030	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5211-01	TCGA-28-5211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266718.4:c.929G>A	p.Arg310His	p.R310H	ENST00000266718	NM_002345.3	310	cGt/cAt	0			1			T	R/H	uc001tbm.2	protein_coding	YES	CCDS9038.1			929/1017									central_nervous_system(2)	2	c.(928-930)CGT>CAT			Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24371,hmmpanther:PTHR24371:SF54,SMART_domains:SM00369,Superfamily_domains:SSF52058	lumican precursor				ENSP00000266718		3-Mar	1.65E-05					1.50E-05		6.07E-05	rs754001312,COSM3399175	3-Mar	.		ENST00000266718	Transcript			collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	ENSG00000139329	g.chr12:91498030C>T	6724			MODERATE		2.44	medium	getma.org/?cm=msa&ty=f&p=LUM_HUMAN&rb=267&re=338&var=R310H	NA	getma.org/?cm=var&var=hg19,12,91498030,C,T&fts=all	R310H	--	--	1																																		LUM_uc001tbn.2_RNA	0,1	1		probably_damaging(0.999)	p.R310H	NM_002345	NP_002336		deleterious(0)	0,1	LUM_HUMAN	LUM	HGNC	P51884	LUM_HUMAN					3	1318	-			UPI0000001C4D	310			LRR 11.		SNV	LUM,missense_variant,p.Arg310His,ENST00000266718,NM_002345.3;LUM,non_coding_transcript_exon_variant,,ENST00000548071,;LUM,non_coding_transcript_exon_variant,,ENST00000546642,;	uc001tbm.2	c.929G>A	1384/3008	1	1			c.929G>A						12	SNP	c.(928-930)CGT>CAT	5	5			central_nervous_system(2)	2	Broad	lumican precursor			91498030		0.373	ENSG00000139329	8916	g.chr12:91498030C>T	collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent							18.870961	KEEP	10	9	-1	30	34	10	9	-1	24.97071	30	34	0.202703	1	0	0	0	0	1	0	0	0	--	--		0	T			LUM_uc001tbn.2_RNA	219	GBM-28-5211-TP	p.R310H	C	GCCATCCAAACGCAAATGCTT	NM_002345	NP_002336	91498030	P51884	LUM_HUMAN	0			3	1318	-	T	T			Missense_Mutation	310			LRR 11.			
LUM	4060		GRCh37	12	91502172	91502172	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000266718.4:c.585G>C	p.Gln195His	p.Q195H	ENST00000266718	NM_002345.3	195	caG/caC	0																																																																																																																																																																																																																																												
LUZP4	0	broad.mit.edu	GRCh37	X	114541268	114541268	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01	TCGA-76-6192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371920.3:c.841G>A	p.Val281Met	p.V281M	ENST00000371920	NM_016383.3	281	Gtg/Atg	0			1			A	V/M	uc004eqa.2	protein_coding	YES	CCDS14567.1			841/942									ovary(2)	2	c.(841-843)GTG>ATG			hmmpanther:PTHR22550,hmmpanther:PTHR22550:SF6	leucine zipper protein 4				ENSP00000360988		4-Apr	5.77E-05					4.18E-05		0.000198	rs201126715,COSM3405858	4-Apr	.		ENST00000371920	Transcript				nucleus		ENSG00000102021	g.chrX:114541268G>A	24971			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=LUZP4_HUMAN&rb=281&re=312&var=V281M	NA	getma.org/?cm=var&var=hg19,X,114541268,G,A&fts=all	V281M	--	--	1																																		LUZP4_uc004eqb.2_Missense_Mutation_p.V199M	0,1	1		benign(0.003)	p.V281M	NM_016383	NP_057467		tolerated(0.41)	0,1	LUZP4_HUMAN	LUZP4	HGNC	Q9P127	LUZP4_HUMAN					4	875	+			UPI0000036093	281					SNV	LUZP4,missense_variant,p.Val281Met,ENST00000371920,NM_016383.3;LUZP4,missense_variant,p.Val199Met,ENST00000451986,;LUZP4,3_prime_UTR_variant,,ENST00000371921,;	uc004eqa.2	c.841G>A	848/1701	2	2			c.841G>A						23	SNP	c.(841-843)GTG>ATG	45	45			ovary(2)	2	Broad	leucine zipper protein 4			114541268		0.428	ENSG00000102021	8919	g.chrX:114541268G>A		nucleus								115.414634	KEEP	16	21	-1	6	17	16	21	-1	116.043943	6	17	0.610169	1	0	0	0	0	1	0	0	0	--	--		0	A			LUZP4_uc004eqb.2_Missense_Mutation_p.V199M	275	GBM-76-6192-TP	p.V281M	G	GAGAGATCTCGTGGCCACTGA	NM_016383	NP_057467	114541268	Q9P127	LUZP4_HUMAN	0			4	875	+	A	A			Missense_Mutation	281						
LY6G6C	0	broad.mit.edu	GRCh37	6	31687971	31687971	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-41-2575-01	TCGA-41-2575-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375819.2:c.62G>T	p.Arg21Leu	p.R21L	ENST00000375819	NM_025261.2	21	cGc/cTc	0			1			A	R/L	uc003nwh.2	protein_coding	YES	CCDS4714.1			62/378										0	c.(61-63)CGC>CTC			Gene3D:2.10.60.10,hmmpanther:PTHR32149,hmmpanther:PTHR32149:SF2,Superfamily_domains:SSF57302	lymphocyte antigen 6 complex G6C precursor				ENSP00000364978		3-Feb									COSM3410942	3-Feb	.		ENST00000375819	Transcript				anchored to membrane|plasma membrane		ENSG00000204421	g.chr6:31687971C>A	13936			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=LY66C_HUMAN&rb=1&re=123&var=R21L	NA	getma.org/?cm=var&var=hg19,6,31687971,C,A&fts=all	R21L	--	--	1																																		LY6G6C_uc010jtd.2_RNA	1	1		possibly_damaging(0.614)	p.R21L	NM_025261	NP_079537		tolerated(0.11)	1	LY66C_HUMAN	LY6G6C	HGNC	O95867	LY66C_HUMAN			G3V1A8_HUMAN		2	116	-			UPI0000048F36	21			UPAR/Ly6.		SNV	LY6G6C,missense_variant,p.Arg21Leu,ENST00000375819,NM_025261.2;LY6G6C,5_prime_UTR_variant,,ENST00000495859,;C6orf25,upstream_gene_variant,,ENST00000375809,NM_138272.2,NM_025260.3,NM_138277.2;MEGT1,downstream_gene_variant,,ENST00000503322,;LY6G6F,downstream_gene_variant,,ENST00000556581,;C6orf25,upstream_gene_variant,,ENST00000375810,;C6orf25,upstream_gene_variant,,ENST00000375806,;C6orf25,upstream_gene_variant,,ENST00000480039,;C6orf25,upstream_gene_variant,,ENST00000375805,NM_138273.2;C6orf25,upstream_gene_variant,,ENST00000375804,NM_138274.2;C6orf25,upstream_gene_variant,,ENST00000375814,NM_138275.2;LY6G6D,downstream_gene_variant,,ENST00000375824,;LY6G6D,downstream_gene_variant,,ENST00000375825,NM_021246.2;C6orf25,intron_variant,,ENST00000460663,;C6orf25,upstream_gene_variant,,ENST00000471545,;C6orf25,upstream_gene_variant,,ENST00000485548,;C6orf25,upstream_gene_variant,,ENST00000466312,;LY6G6D,downstream_gene_variant,,ENST00000479334,;	uc003nwh.2	c.62G>T	228/992	2	2			c.62G>T						6	SNP	c.(61-63)CGC>CTC	34	34				0	Broad	lymphocyte antigen 6 complex G6C precursor			31687971		0.592	ENSG00000204421	8925	g.chr6:31687971C>A		anchored to membrane|plasma membrane								-19.497957	KEEP	2	2	0.5	57	66	2	2	0.5	8.712979	57	66	0.033613	1	0	0	0	0	1	0	0	0	--	--		0	A			LY6G6C_uc010jtd.2_RNA	253	GBM-41-2575-TP	p.R21L	C	GGAGTGACAGCGAATGTCAGC	NM_025261	NP_079537	31687971	O95867	LY66C_HUMAN	0			2	116	-	A	A			Missense_Mutation	21			UPAR/Ly6.			
LY75	0	broad.mit.edu	GRCh37	2	160755282	160755282	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-4935-01	TCGA-76-4935-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263636.4:c.383G>T	p.Gly128Val	p.G128V	ENST00000263636	NM_002349.3	128	gGa/gTa	0			1			A	G/V	uc002ubc.3	protein_coding		CCDS2211.1			383/5169										0	c.(382-384)GGA>GTA			Gene3D:2.80.10.50,hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF65,SMART_domains:SM00458,Superfamily_domains:SSF50370	lymphocyte antigen 75 precursor				ENSP00000263636		Feb-35									COSM717289	Feb-35	.		ENST00000263636	Transcript			endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	ENSG00000054219	g.chr2:160755282C>A	6729			MODERATE		2.535	medium	getma.org/?cm=msa&ty=f&p=LY75_HUMAN&rb=33&re=156&var=G128V	getma.org/pdb.php?prot=LY75_HUMAN&from=33&to=156&var=G128V	getma.org/?cm=var&var=hg19,2,160755282,C,A&fts=all	G128V	--	--	1																																		LY75_uc002ubb.3_Missense_Mutation_p.G128V|LY75_uc010fos.2_Missense_Mutation_p.G128V|LY75_uc010fot.1_Missense_Mutation_p.G128V	1			probably_damaging(0.984)	p.G128V	NM_002349	NP_002340		deleterious(0)	1	LY75_HUMAN	LY75	HGNC	O60449	LY75_HUMAN		COAD - Colon adenocarcinoma(177;0.132)			2	452	-			UPI00001AE885	128			Extracellular (Potential).|Ricin B-type lectin.		SNV	LY75,missense_variant,p.Gly128Val,ENST00000263636,NM_002349.3;LY75-CD302,missense_variant,p.Gly128Val,ENST00000504764,NM_001198759.1;LY75,missense_variant,p.Gly128Val,ENST00000554112,;LY75-CD302,missense_variant,p.Gly128Val,ENST00000505052,NM_001198760.1;LY75,missense_variant,p.Gly128Val,ENST00000553424,;LY75,downstream_gene_variant,,ENST00000492955,;LY75,downstream_gene_variant,,ENST00000471164,;LY75,non_coding_transcript_exon_variant,,ENST00000484559,;	uc002ubc.3	c.383G>T	411/6886	1	1			c.383G>T						2	SNP	c.(382-384)GGA>GTA	49	49				0	Broad	lymphocyte antigen 75 precursor			160755282		0.522	ENSG00000054219	8930	g.chr2:160755282C>A	endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding							-12.173968	KEEP	3	2	0.4	45	44	3	2	0.4	7.250958	45	44	0.045455	1	0	0	0	0	1	0	0	0	--	--		0	A			LY75_uc002ubb.3_Missense_Mutation_p.G128V|LY75_uc010fos.2_Missense_Mutation_p.G128V|LY75_uc010fot.1_Missense_Mutation_p.G128V	273	GBM-76-4935-TP	p.G128V	C	TGTGCCATGTCCATCCTTCAG	NM_002349	NP_002340	160755282	O60449	LY75_HUMAN	0		COAD - Colon adenocarcinoma(177;0.132)	2	452	-	A	A			Missense_Mutation	128			Extracellular (Potential).|Ricin B-type lectin.			
LY75-CD302	100526664	broad.mit.edu	GRCh37	2	160755280	160755280	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5410-01	TCGA-06-5410-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504764.1:c.385C>T	p.His129Tyr	p.H129Y	ENST00000504764	NM_001198759.1	129	Cat/Tat	0			1			A	H/Y	uc002ubc.3	protein_coding		CCDS2211.1			385/5169										0	c.(385-387)CAT>TAT			Gene3D:2.80.10.50,hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF65,SMART_domains:SM00458,Superfamily_domains:SSF50370	lymphocyte antigen 75 precursor				ENSP00000263636		Feb-35									COSM3406966	Feb-35	.		ENST00000263636	Transcript			endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	ENSG00000054219	g.chr2:160755280G>A	6729			MODERATE		0.11	neutral	getma.org/?cm=msa&ty=f&p=LY75_HUMAN&rb=33&re=156&var=H129Y	getma.org/pdb.php?prot=LY75_HUMAN&from=33&to=156&var=H129Y	getma.org/?cm=var&var=hg19,2,160755280,G,A&fts=all	H129Y	--	--	1																																		LY75_uc002ubb.3_Missense_Mutation_p.H129Y|LY75_uc010fos.2_Missense_Mutation_p.H129Y|LY75_uc010fot.1_Missense_Mutation_p.H129Y	1			benign(0.001)	p.H129Y	NM_002349	NP_002340		tolerated(1)	1	LY75_HUMAN	LY75	HGNC	O60449	LY75_HUMAN		COAD - Colon adenocarcinoma(177;0.132)			2	454	-			UPI00001AE885	129			Extracellular (Potential).|Ricin B-type lectin.		SNV	LY75,missense_variant,p.His129Tyr,ENST00000263636,NM_002349.3;LY75-CD302,missense_variant,p.His129Tyr,ENST00000504764,NM_001198759.1;LY75,missense_variant,p.His129Tyr,ENST00000554112,;LY75-CD302,missense_variant,p.His129Tyr,ENST00000505052,NM_001198760.1;LY75,missense_variant,p.His129Tyr,ENST00000553424,;LY75,downstream_gene_variant,,ENST00000492955,;LY75,downstream_gene_variant,,ENST00000471164,;LY75,non_coding_transcript_exon_variant,,ENST00000484559,;	uc002ubc.3	c.385C>T	413/6886	2	2			c.385C>T						2	SNP	c.(385-387)CAT>TAT	37	37				0	Broad	lymphocyte antigen 75 precursor			160755280		0.522	ENSG00000054219	8930	g.chr2:160755280G>A	endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding							-4.753971	KEEP	4	5	-1	41	53	4	5	-1	12.525351	41	53	0.075269	1	0	0	0	0	1	0	0	0	--	--		0	A			LY75_uc002ubb.3_Missense_Mutation_p.H129Y|LY75_uc010fos.2_Missense_Mutation_p.H129Y|LY75_uc010fot.1_Missense_Mutation_p.H129Y	93	GBM-06-5410-TP	p.H129Y	G	GCTGTGCCATGTCCATCCTTC	NM_002349	NP_002340	160755280	O60449	LY75_HUMAN	0		COAD - Colon adenocarcinoma(177;0.132)	2	454	-	A	A			Missense_Mutation	129			Extracellular (Potential).|Ricin B-type lectin.			
LY9	4063	broad.mit.edu	GRCh37	1	160784327	160784327	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0158-01	TCGA-06-0158-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263285.6:c.848T>G	p.Leu283Trp	p.L283W	ENST00000263285		283	tTg/tGg	0			1			G	L/W	uc001fwu.2	protein_coding	YES	CCDS30916.1			848/1968									ovary(1)	1	c.(847-849)TTG>TGG			Gene3D:2.60.40.10,hmmpanther:PTHR12080,hmmpanther:PTHR12080:SF14,SMART_domains:SM00409,Superfamily_domains:SSF48726	lymphocyte antigen 9 isoform a				ENSP00000263285		10-Apr									COSM2150112	10-Apr	.		ENST00000263285	Transcript			cell adhesion|immunoglobulin mediated immune response	integral to membrane		ENSG00000122224	g.chr1:160784327T>G	6730			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=LY9_HUMAN&rb=251&re=363&var=L283W	getma.org/pdb.php?prot=LY9_HUMAN&from=251&to=363&var=L283W	getma.org/?cm=var&var=hg19,1,160784327,T,G&fts=all	L283W	--	--	1																																		LY9_uc010pjs.1_Missense_Mutation_p.L283W|LY9_uc001fwv.2_Missense_Mutation_p.L283W|LY9_uc001fww.2_Missense_Mutation_p.L283W|LY9_uc001fwx.2_Missense_Mutation_p.L283W|LY9_uc001fwy.1_Missense_Mutation_p.L185W|LY9_uc001fwz.2_5'UTR	1	1		possibly_damaging(0.723)	p.L283W	NM_002348	NP_002339		deleterious(0)	1	LY9_HUMAN	LY9	HGNC	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)				4	898	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		UPI00001416AF	283			Extracellular (Potential).|Ig-like V-type 2.		SNV	LY9,missense_variant,p.Leu283Trp,ENST00000368037,NM_001261456.1,NM_002348.3;LY9,missense_variant,p.Leu283Trp,ENST00000263285,;LY9,missense_variant,p.Leu283Trp,ENST00000392203,NM_001261457.1;LY9,missense_variant,p.Leu243Trp,ENST00000368041,;LY9,missense_variant,p.Leu283Trp,ENST00000341032,;LY9,missense_variant,p.Leu6Trp,ENST00000368035,;LY9,5_prime_UTR_variant,,ENST00000368040,;LY9,non_coding_transcript_exon_variant,,ENST00000471816,;LY9,downstream_gene_variant,,ENST00000480837,;LY9,non_coding_transcript_exon_variant,,ENST00000479663,;	uc001fwu.2	c.848T>G	878/2443	3	3			c.848T>G						1	SNP	c.(847-849)TTG>TGG	55	55			ovary(1)	1	Broad	lymphocyte antigen 9 isoform a			160784327		0.547	ENSG00000122224	8932	g.chr1:160784327T>G	cell adhesion|immunoglobulin mediated immune response	integral to membrane								190.628334	KEEP	31	36	-1	34	58	31	36	-1	191.50955	34	58	0.412214	1	0	0	0	0	1	0	0	0	--	--		0	G			LY9_uc010pjs.1_Missense_Mutation_p.L283W|LY9_uc001fwv.2_Missense_Mutation_p.L283W|LY9_uc001fww.2_Missense_Mutation_p.L283W|LY9_uc001fwx.2_Missense_Mutation_p.L283W|LY9_uc001fwy.1_Missense_Mutation_p.L185W|LY9_uc001fwz.2_5'UTR	29	GBM-06-0158-TP	p.L283W	T	GTTGTCTGGTTGTTTAACACA	NM_002348	NP_002339	160784327	Q9HBG7	LY9_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.00737)		4	898	+	G	G	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		Missense_Mutation	283			Extracellular (Potential).|Ig-like V-type 2.			
LY96	23643	broad.mit.edu	GRCh37	8	74941281	74941281	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-6390-01	TCGA-06-6390-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284818.2:c.475T>C	p.Ser159Pro	p.S159P	ENST00000284818	NM_015364.4	159	Tca/Cca	0			1			C	S/P	uc003yad.2	protein_coding	YES	CCDS6216.1			475/483										0	c.(475-477)TCA>CCA			hmmpanther:PTHR15218	MD-2 protein precursor				ENSP00000284818		5-May									COSM2153456	5-May	.		ENST00000284818	Transcript			cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding	ENSG00000154589	g.chr8:74941281T>C	17156			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=LY96_HUMAN&rb=126&re=160&var=S159P	getma.org/pdb.php?prot=LY96_HUMAN&from=156&to=160&var=S159P	getma.org/?cm=var&var=hg19,8,74941281,T,C&fts=all	S159P	--	--	1																																			1	1		benign(0.097)	p.S159P	NM_015364	NP_056179		tolerated(0.09)	1	LY96_HUMAN	LY96	HGNC	Q9Y6Y9	LY96_HUMAN	Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)				5	566	+	Breast(64;0.0311)		UPI000013DDBB	159					SNV	LY96,missense_variant,p.Ser159Pro,ENST00000284818,NM_015364.4;LY96,missense_variant,p.Ser129Pro,ENST00000518893,NM_001195797.1;	uc003yad.2	c.475T>C	566/607	4	4			c.475T>C						8	SNP	c.(475-477)TCA>CCA	34	34				0	Broad	MD-2 protein precursor			74941281		0.234	ENSG00000154589	8933	g.chr8:74941281T>C	cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding	GBM(131;1357 1748 34893 50149 52212)			GBM(131;1357 1748 34893 50149 52212)			25.754524	KEEP	7	3	-1	17	23	7	3	-1	29.516634	17	23	0.2	1	0	0	0	0	1	0	0	0	--	--		0	C				106	GBM-06-6390-TP	p.S159P	T	CCAACCTAATTCAAATTAGAA	NM_015364	NP_056179	74941281	Q9Y6Y9	LY96_HUMAN	0	Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)		5	566	+	C	C	Breast(64;0.0311)		Missense_Mutation	159						
LY96	0	broad.mit.edu	GRCh37	8	74922304	74922304	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-1829-01	TCGA-14-1829-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284818.2:c.271A>G	p.Lys91Glu	p.K91E	ENST00000284818	NM_015364.4	91	Aaa/Gaa	0			1			G	K/E	uc003yad.2	protein_coding	YES	CCDS6216.1			271/483										0	c.(271-273)AAA>GAA			Pfam_domain:PF02221,hmmpanther:PTHR15218,SMART_domains:SM00737,Superfamily_domains:SSF81296	MD-2 protein precursor				ENSP00000284818		5-Mar									COSM3413112	5-Mar	.		ENST00000284818	Transcript			cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding	ENSG00000154589	g.chr8:74922304A>G	17156			MODERATE		2.48	medium	getma.org/?cm=msa&ty=f&p=LY96_HUMAN&rb=30&re=155&var=K91E	getma.org/pdb.php?prot=LY96_HUMAN&from=30&to=155&var=K91E	getma.org/?cm=var&var=hg19,8,74922304,A,G&fts=all	K91E	--	--	1																																			1	1		benign(0.098)	p.K91E	NM_015364	NP_056179		tolerated(0.08)	1	LY96_HUMAN	LY96	HGNC	Q9Y6Y9	LY96_HUMAN	Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)				3	362	+	Breast(64;0.0311)		UPI000013DDBB	91					SNV	LY96,missense_variant,p.Lys91Glu,ENST00000284818,NM_015364.4;LY96,missense_variant,p.Lys61Glu,ENST00000518893,NM_001195797.1;	uc003yad.2	c.271A>G	362/607	3	3			c.271A>G						8	SNP	c.(271-273)AAA>GAA	5	5				0	Broad	MD-2 protein precursor			74922304		0.343	ENSG00000154589	8933	g.chr8:74922304A>G	cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding	GBM(131;1357 1748 34893 50149 52212)			GBM(131;1357 1748 34893 50149 52212)			121.826433	KEEP	26	20	-1	47	41	26	20	-1	124.501968	47	41	0.338983	1	0	0	0	0	1	0	0	0	--	--		0	G				149	GBM-14-1829-TP	p.K91E	A	TCCAAAGCGCAAAGAAGTTAT	NM_015364	NP_056179	74922304	Q9Y6Y9	LY96_HUMAN	0	Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)		3	362	+	G	G	Breast(64;0.0311)		Missense_Mutation	91						
LYN	0	broad.mit.edu	GRCh37	8	56866431	56866431	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-19-5955-01	TCGA-19-5955-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000519728.1:c.678T>C	p.Cys226=	p.C226=	ENST00000519728	NM_002350.3	226	tgT/tgC	0			1			C	C	uc003xsk.3	protein_coding	YES	CCDS6162.1			678/1539									ovary(1)|breast(1)|central_nervous_system(1)	3	c.(676-678)TGT>TGC			PROSITE_profiles:PS50001,hmmpanther:PTHR24418:SF42,hmmpanther:PTHR24418,Gene3D:3.30.505.10,Superfamily_domains:SSF55550	Yamaguchi sarcoma viral (v-yes-1) oncogene				ENSP00000428924		13-Aug	8.24E-06							6.06E-05	rs760894198,COSM3413073	13-Aug	.		ENST00000519728	Transcript			erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	ENSG00000254087	g.chr8:56866431T>C	6735			LOW								--	--	1																																		LYN_uc003xsl.3_Silent_p.C205C	0,1	1			p.C226C	NM_002350	NP_002341			0,1	LYN_HUMAN	LYN	HGNC	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		E5RJ37_HUMAN,B4DQ79_HUMAN		8	960	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	UPI000013DACD	226			SH2.		SNV	LYN,synonymous_variant,p.=,ENST00000520220,NM_001111097.2;LYN,synonymous_variant,p.=,ENST00000519728,NM_002350.3;LYN,downstream_gene_variant,,ENST00000520050,;LYN,upstream_gene_variant,,ENST00000420292,;	uc003xsk.3	c.678T>C	974/2297	3	3			c.678T>C						8	SNP	c.(676-678)TGT>TGC	3	3			ovary(1)|breast(1)|central_nervous_system(1)	3	Broad	Yamaguchi sarcoma viral (v-yes-1) oncogene			56866431		0.478	ENSG00000254087	8938	g.chr8:56866431T>C	erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			240			240	31.583614	KEEP	10	8	-1	44	45	10	8	-1	43.078296	44	45	0.151515	1	0	0	0	0	0	0	1	0	--	--		0	C			LYN_uc003xsl.3_Silent_p.C205C	175	GBM-19-5955-TP	p.C226C	T	AGAAGGCTTGTATTAGTCCCA	NM_002350	NP_002341	56866431	P07948	LYN_HUMAN	0	Epithelial(17;0.000834)|all cancers(17;0.00598)		8	960	+	C	C		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Silent	226			SH2.			
LYN	0	broad.mit.edu	GRCh37	8	56863056	56863056	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-5220-01	TCGA-28-5220-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000519728.1:c.323A>G	p.Lys108Arg	p.K108R	ENST00000519728	NM_002350.3	108	aAa/aGa	0			1			G	K/R	uc003xsk.3	protein_coding	YES	CCDS6162.1			323/1539									ovary(1)|breast(1)|central_nervous_system(1)	3	c.(322-324)AAA>AGA			PROSITE_profiles:PS50002,hmmpanther:PTHR24418:SF42,hmmpanther:PTHR24418,Gene3D:2.30.30.40,Pfam_domain:PF00018,SMART_domains:SM00326,Superfamily_domains:SSF50044	Yamaguchi sarcoma viral (v-yes-1) oncogene				ENSP00000428924		13-May									COSM3413072	13-May	.		ENST00000519728	Transcript			erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	ENSG00000254087	g.chr8:56863056A>G	6735			MODERATE		0.145	neutral	getma.org/?cm=msa&ty=f&p=LYN_HUMAN&rb=69&re=115&var=K108R	getma.org/pdb.php?prot=LYN_HUMAN&from=69&to=115&var=K108R	getma.org/?cm=var&var=hg19,8,56863056,A,G&fts=all	K108R	--	--	1																																		LYN_uc003xsl.3_Missense_Mutation_p.K87R	1	1		benign(0.012)	p.K108R	NM_002350	NP_002341		tolerated(0.14)	1	LYN_HUMAN	LYN	HGNC	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		E5RJ37_HUMAN,B4DQ79_HUMAN		5	605	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	UPI000013DACD	108			SH3.		SNV	LYN,missense_variant,p.Lys87Arg,ENST00000520220,NM_001111097.2;LYN,missense_variant,p.Lys108Arg,ENST00000519728,NM_002350.3;LYN,missense_variant,p.Lys108Arg,ENST00000520050,;LYN,upstream_gene_variant,,ENST00000420292,;	uc003xsk.3	c.323A>G	619/2297	3	3			c.323A>G						8	SNP	c.(322-324)AAA>AGA	7	7			ovary(1)|breast(1)|central_nervous_system(1)	3	Broad	Yamaguchi sarcoma viral (v-yes-1) oncogene			56863056		0.348	ENSG00000254087	8938	g.chr8:56863056A>G	erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			240			240	791.080788	KEEP	144	113	-1	133	156	144	113	-1	791.55937	133	156	0.465517	1	0	0	0	0	1	0	0	0	--	--		0	G			LYN_uc003xsl.3_Missense_Mutation_p.K87R	226	GBM-28-5220-TP	p.K108R	A	CTTTTAACAAAAAAAGAAGGC	NM_002350	NP_002341	56863056	P07948	LYN_HUMAN	0	Epithelial(17;0.000834)|all cancers(17;0.00598)		5	605	+	G	G		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Missense_Mutation	108			SH3.			
LYN	0	broad.mit.edu	GRCh37	8	56854426	56854426	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01	TCGA-32-2494-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000519728.1:c.8G>A	p.Cys3Tyr	p.C3Y	ENST00000519728	NM_002350.3	3	tGt/tAt	0			1			A	C/Y	uc003xsk.3	protein_coding	YES	CCDS6162.1			8/1539									ovary(1)|breast(1)|central_nervous_system(1)	3	c.(7-9)TGT>TAT			hmmpanther:PTHR24418:SF42,hmmpanther:PTHR24418	Yamaguchi sarcoma viral (v-yes-1) oncogene				ENSP00000428924		13-Feb									COSM3413071	13-Feb	.		ENST00000519728	Transcript			erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	ENSG00000254087	g.chr8:56854426G>A	6735			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=LYN_HUMAN&rb=1&re=68&var=C3Y	NA	getma.org/?cm=var&var=hg19,8,56854426,G,A&fts=all	C3Y	--	--	1																																		LYN_uc003xsl.3_Missense_Mutation_p.C3Y	1	1		probably_damaging(0.999)	p.C3Y	NM_002350	NP_002341		deleterious(0)	1	LYN_HUMAN	LYN	HGNC	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		E5RJ37_HUMAN,B4DQ79_HUMAN		2	290	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	UPI000013DACD	3	C->A: Loss of localization to the cell membrane; when associated with A-2.				SNV	LYN,missense_variant,p.Cys3Tyr,ENST00000520220,NM_001111097.2;LYN,missense_variant,p.Cys3Tyr,ENST00000519728,NM_002350.3;LYN,missense_variant,p.Cys3Tyr,ENST00000520050,;	uc003xsk.3	c.8G>A	304/2297	1	1			c.8G>A						8	SNP	c.(7-9)TGT>TAT	55	55			ovary(1)|breast(1)|central_nervous_system(1)	3	Broad	Yamaguchi sarcoma viral (v-yes-1) oncogene			56854426		0.343	ENSG00000254087	8938	g.chr8:56854426G>A	erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			240			240	83.87869	KEEP	16	20	-1	33	46	16	20	-1	87.67263	33	46	0.298077	1	0	0	0	0	1	0	0	0	--	--		0	A			LYN_uc003xsl.3_Missense_Mutation_p.C3Y	236	GBM-32-2494-TP	p.C3Y	G	AATATGGGATGTATAAAATCA	NM_002350	NP_002341	56854426	P07948	LYN_HUMAN	0	Epithelial(17;0.000834)|all cancers(17;0.00598)		2	290	+	A	A		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Missense_Mutation	3	C->A: Loss of localization to the cell membrane; when associated with A-2.					
LYPD4	147719	broad.mit.edu	GRCh37	19	42341249	42341249	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330743.3:c.709G>A	p.Val237Ile	p.V237I	ENST00000330743	NM_173506.4	237	Gtc/Atc	0	T:0		1			T	V/I	uc002orp.1	protein_coding	YES	CCDS12587.1			709/741									ovary(1)	1	c.(709-711)GTC>ATC			hmmpanther:PTHR16529:SF6,hmmpanther:PTHR16529	LY6/PLAUR domain containing 4 precursor			T:0.0001	ENSP00000328737		5-May	1.65E-05		8.64E-05			1.50E-05			rs375302712,COSM2149636	5-May	.		ENST00000330743	Transcript				anchored to membrane|plasma membrane		ENSG00000183103	g.chr19:42341249C>T	28659			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=LYPD4_HUMAN&rb=199&re=246&var=V237I	NA	getma.org/?cm=var&var=hg19,19,42341249,C,T&fts=all	V237I	--	--	1																																		LYPD4_uc002orq.1_Missense_Mutation_p.V202I	0,1	1		benign(0.002)	p.V237I	NM_173506	NP_775777		deleterious(0.04)	0,1	LYPD4_HUMAN	LYPD4	HGNC	Q6UWN0	LYPD4_HUMAN			A8K8E0_HUMAN		5	1693	-			UPI0000366E14	237					SNV	LYPD4,missense_variant,p.Val237Ile,ENST00000330743,NM_173506.4;LYPD4,missense_variant,p.Val202Ile,ENST00000601246,;LYPD4,missense_variant,p.Val202Ile,ENST00000343055,;AC020956.3,upstream_gene_variant,,ENST00000593354,;	uc002orp.1	c.709G>A	1921/2022	2	2			c.709G>A						19	SNP	c.(709-711)GTC>ATC	29	29			ovary(1)	1	Broad	LY6/PLAUR domain containing 4 precursor			42341249		0.483	ENSG00000183103	8943	g.chr19:42341249C>T		anchored to membrane|plasma membrane								124.367766	KEEP	24	29	-1	84	77	24	29	-1	136.250963	84	77	0.246305	1	0	0	0	0	1	0	0	0	--	--		0	T			LYPD4_uc002orq.1_Missense_Mutation_p.V202I	18	GBM-06-0137-TP	p.V237I	C	AGGCCTAAGACGACACCCCAA	NM_173506	NP_775777	42341249	Q6UWN0	LYPD4_HUMAN	0			5	1693	-	T	T			Missense_Mutation	237						
LYPD4	147719	broad.mit.edu	GRCh37	19	42342222	42342222	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs142442476	byFrequency	TCGA-06-6388-01	TCGA-06-6388-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330743.3:c.325G>A	p.Val109Ile	p.V109I	ENST00000330743	NM_173506.4	109	Gtc/Atc	0	T:0.003	T:0.0015	1	T:0.0029		T	V/I	uc002orp.1	protein_coding	YES	CCDS12587.1			325/741									ovary(1)	1	c.(325-327)GTC>ATC			hmmpanther:PTHR16529:SF6,hmmpanther:PTHR16529	LY6/PLAUR domain containing 4 precursor		T:0	T:0.0003	ENSP00000328737	T:0	5-Apr	0.000354	0.00279	0.000259			0.000166			rs142442476,COSM3404280	5-Apr	common_variant		ENST00000330743	Transcript		T:0.0008		anchored to membrane|plasma membrane		ENSG00000183103	g.chr19:42342222C>T	28659			MODERATE		1.63	low	getma.org/?cm=msa&ty=f&p=LYPD4_HUMAN&rb=1&re=141&var=V109I	NA	getma.org/?cm=var&var=hg19,19,42342222,C,T&fts=all	V109I	--	--	1																																		LYPD4_uc002orq.1_Missense_Mutation_p.V74I	0,1	1		benign(0.055)	p.V109I	NM_173506	NP_775777	T:0	tolerated(0.15)	0,1	LYPD4_HUMAN	LYPD4	HGNC	Q6UWN0	LYPD4_HUMAN			A8K8E0_HUMAN		4	1309	-			UPI0000366E14	109					SNV	LYPD4,missense_variant,p.Val109Ile,ENST00000330743,NM_173506.4;LYPD4,missense_variant,p.Val74Ile,ENST00000601246,;LYPD4,missense_variant,p.Val74Ile,ENST00000343055,;AC020956.3,upstream_gene_variant,,ENST00000593354,;	uc002orp.1	c.325G>A	1537/2022	1	1			c.325G>A						19	SNP	c.(325-327)GTC>ATC	13	13			ovary(1)	1	Broad	LY6/PLAUR domain containing 4 precursor			42342222		0.522	ENSG00000183103	8943	g.chr19:42342222C>T		anchored to membrane|plasma membrane								44.39955	KEEP	14	12	-1	55	40	14	12	-1	52.796024	55	40	0.207547	1	0	0	0	0	1	0	0	0	--	--		0	T			LYPD4_uc002orq.1_Missense_Mutation_p.V74I	104	GBM-06-6388-TP	p.V109I	C	GACCGGCAGACGCGACTGTAG	NM_173506	NP_775777	42342222	Q6UWN0	LYPD4_HUMAN	0			4	1309	-	T	T			Missense_Mutation	109						
LYPD4	0	broad.mit.edu	GRCh37	19	42342041	42342041	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330743.3:c.506C>T	p.Thr169Met	p.T169M	ENST00000330743	NM_173506.4	169	aCg/aTg	0	A:0.0007	T:0	1	T:0		A	T/M	uc002orp.1	protein_coding	YES	CCDS12587.1			506/741									ovary(1)	1	c.(505-507)ACG>ATG			Superfamily_domains:SSF57302,Pfam_domain:PF00021,hmmpanther:PTHR16529:SF6,hmmpanther:PTHR16529	LY6/PLAUR domain containing 4 precursor		T:0	A:0	ENSP00000328737	T:0	5-Apr	7.41E-05	0.000484	8.77E-05	0.000116		3.03E-05			rs369563100,COSM3286426	5-Apr	common_variant		ENST00000330743	Transcript		T:0.0002		anchored to membrane|plasma membrane		ENSG00000183103	g.chr19:42342041G>A	28659			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=LYPD4_HUMAN&rb=142&re=228&var=T169M	NA	getma.org/?cm=var&var=hg19,19,42342041,G,A&fts=all	T169M	--	--	1																																		LYPD4_uc002orq.1_Missense_Mutation_p.T134M	0,1	1		benign(0.023)	p.T169M	NM_173506	NP_775777	T:0.001	tolerated(0.11)	0,1	LYPD4_HUMAN	LYPD4	HGNC	Q6UWN0	LYPD4_HUMAN			A8K8E0_HUMAN		4	1490	-			UPI0000366E14	169			UPAR/Ly6.		SNV	LYPD4,missense_variant,p.Thr169Met,ENST00000330743,NM_173506.4;LYPD4,missense_variant,p.Thr134Met,ENST00000601246,;LYPD4,missense_variant,p.Thr134Met,ENST00000343055,;AC020956.3,upstream_gene_variant,,ENST00000593354,;	uc002orp.1	c.506C>T	1718/2022	1	1			c.506C>T						19	SNP	c.(505-507)ACG>ATG	59	59			ovary(1)	1	Broad	LY6/PLAUR domain containing 4 precursor			42342041		0.403	ENSG00000183103	8943	g.chr19:42342041G>A		anchored to membrane|plasma membrane								62.762156	KEEP	16	10	-1	43	29	16	10	-1	67.02166	43	29	0.269663	1	0	0	0	0	1	0	0	0	--	--		0	A			LYPD4_uc002orq.1_Missense_Mutation_p.T134M	249	GBM-32-5222-TP	p.T169M	G	ACTGTAACACGTAGAAGCAGC	NM_173506	NP_775777	42342041	Q6UWN0	LYPD4_HUMAN	0			4	1490	-	A	A			Missense_Mutation	169			UPAR/Ly6.			
LYSMD3	0	broad.mit.edu	GRCh37	5	89821101	89821101	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-32-1977-01	TCGA-32-1977-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315948.6:c.6A>G	p.Ala2=	p.A2=	ENST00000315948	NM_198273.1	2	gcA/gcG	0			1			C	A	uc003kjr.2	protein_coding	YES	CCDS43338.1			6/921										0	c.(4-6)GCA>GCG			hmmpanther:PTHR20932:SF5,hmmpanther:PTHR20932	LysM, putative peptidoglycan-binding, domain				ENSP00000314518		3-Feb									COSM3410461	3-Feb	.		ENST00000315948	Transcript			cell wall macromolecule catabolic process	integral to membrane		ENSG00000176018	g.chr5:89821101T>C	26969			LOW								--	--	1																																		LYSMD3_uc010jaz.1_Silent_p.A2A|LYSMD3_uc003kjs.1_Silent_p.A2A	1	1			p.A2A	NM_198273	NP_938014			1	LYSM3_HUMAN	LYSMD3	HGNC	Q7Z3D4	LYSM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)	A8K613_HUMAN		2	154	-		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)	UPI000015FBC3	2			Extracellular (Potential).		SNV	LYSMD3,synonymous_variant,p.=,ENST00000315948,NM_198273.1;LYSMD3,synonymous_variant,p.=,ENST00000500869,;LYSMD3,synonymous_variant,p.=,ENST00000509384,NM_001286812.1;GPR98,upstream_gene_variant,,ENST00000508842,;LYSMD3,synonymous_variant,p.=,ENST00000453259,;	uc003kjr.2	c.6A>G	151/4259	4	4			c.6A>G						5	SNP	c.(4-6)GCA>GCG	46	46				0	Broad	LysM, putative peptidoglycan-binding, domain			89821101		0.403	ENSG00000176018	8957	g.chr5:89821101T>C	cell wall macromolecule catabolic process	integral to membrane								9.444778	KEEP	13	12	-1	49	71	13	12	-1	22.225557	49	71	0.1	1	0	0	0	0	0	0	1	0	--	--		0	C			LYSMD3_uc010jaz.1_Silent_p.A2A|LYSMD3_uc003kjs.1_Silent_p.A2A	229	GBM-32-1977-TP	p.A2A	T	GATGCCTCCCTGCCATAATGT	NM_198273	NP_938014	89821101	Q7Z3D4	LYSM3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)	2	154	-	C	C		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)	Silent	2			Extracellular (Potential).			
LYSMD3	0	broad.mit.edu	GRCh37	5	89815175	89815175	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-4934-01	TCGA-76-4934-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315948.6:c.382C>G	p.Gln128Glu	p.Q128E	ENST00000315948	NM_198273.1	128	Cag/Gag	0			1			C	Q/E	uc003kjr.2	protein_coding	YES	CCDS43338.1			382/921										0	c.(382-384)CAG>GAG			hmmpanther:PTHR20932:SF5,hmmpanther:PTHR20932	LysM, putative peptidoglycan-binding, domain				ENSP00000314518		3-Mar									COSM3410460	3-Mar	.		ENST00000315948	Transcript			cell wall macromolecule catabolic process	integral to membrane		ENSG00000176018	g.chr5:89815175G>C	26969			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=LYSM3_HUMAN&rb=111&re=306&var=Q128E	NA	getma.org/?cm=var&var=hg19,5,89815175,G,C&fts=all	Q128E	--	--	1																																		LYSMD3_uc010jaz.1_Intron|LYSMD3_uc003kjs.1_Missense_Mutation_p.T108R	1	1		benign(0.08)	p.Q128E	NM_198273	NP_938014		tolerated(1)	1	LYSM3_HUMAN	LYSMD3	HGNC	Q7Z3D4	LYSM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)	A8K613_HUMAN		3	530	-		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)	UPI000015FBC3	128			Extracellular (Potential).		SNV	LYSMD3,missense_variant,p.Gln128Glu,ENST00000315948,NM_198273.1;LYSMD3,missense_variant,p.Thr108Arg,ENST00000509384,NM_001286812.1;LYSMD3,intron_variant,,ENST00000500869,;POLR3G,downstream_gene_variant,,ENST00000399107,NM_006467.2;POLR3G,downstream_gene_variant,,ENST00000504930,;LYSMD3,downstream_gene_variant,,ENST00000453259,;	uc003kjr.2	c.382C>G	527/4259	3	3			c.382C>G						5	SNP	c.(382-384)CAG>GAG	63	63				0	Broad	LysM, putative peptidoglycan-binding, domain			89815175		0.393	ENSG00000176018	8957	g.chr5:89815175G>C	cell wall macromolecule catabolic process	integral to membrane								379.523038	KEEP	53	55	-1	65	75	53	55	-1	380.360628	65	75	0.435897	1	0	0	0	0	1	0	0	0	--	--		0	C			LYSMD3_uc010jaz.1_Intron|LYSMD3_uc003kjs.1_Missense_Mutation_p.T108R	272	GBM-76-4934-TP	p.Q128E	G	CGTGAAGTCTGTCTTCCTTTT	NM_198273	NP_938014	89815175	Q7Z3D4	LYSM3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)	3	530	-	C	C		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)	Missense_Mutation	128			Extracellular (Potential).			
LYST	1130	broad.mit.edu	GRCh37	1	235969724	235969724	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0168-01	TCGA-06-0168-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389794.3:c.2712G>A	p.Val904=	p.V904=	ENST00000389794		904	gtG/gtA	0			1			T	V	uc001hxj.2	protein_coding		CCDS31062.1			2712/11406									ovary(6)|breast(4)|central_nervous_system(2)	12	c.(2710-2712)GTG>GTA			hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF60	lysosomal trafficking regulator				ENSP00000374443		Jun-53									COSM2150251	Jun-53	.	Chediak-Higashi_syndrome	ENST00000389793	Transcript	1		defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	ENSG00000143669	g.chr1:235969724C>T	1968			LOW								--	--	1																																		LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Silent_p.V904V	1				p.V904V	NM_000081	NP_000072			1	LYST_HUMAN	LYST	HGNC	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)				6	2887	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	UPI000020509E	904					SNV	LYST,synonymous_variant,p.=,ENST00000389794,;LYST,synonymous_variant,p.=,ENST00000389793,NM_000081.3;LYST,synonymous_variant,p.=,ENST00000536965,;LYST,non_coding_transcript_exon_variant,,ENST00000489585,;LYST,non_coding_transcript_exon_variant,,ENST00000465349,;	uc001hxj.2	c.2712G>A	2887/13471	1	1			c.2712G>A						1	SNP	c.(2710-2712)GTG>GTA	2	2			ovary(6)|breast(4)|central_nervous_system(2)	12	Broad	lysosomal trafficking regulator			235969724	Chediak-Higashi_syndrome	0.428	ENSG00000143669	8959	g.chr1:235969724C>T	defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding							122.419139	KEEP	28	19	-1	67	63	28	19	-1	130.373271	67	63	0.268293	1	0	0	0	0	0	0	1	0	--	--		0	T			LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Silent_p.V904V	33	GBM-06-0168-TP	p.V904V	C	ATAAAAAAGCCACACAGAGGA	NM_000081	NP_000072	235969724	Q99698	LYST_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		6	2887	-	T	T	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	Silent	904						
LYST	1130	broad.mit.edu	GRCh37	1	235940405	235940405	+	synonymous_variant	Silent	SNP	G	G	A	rs146990900		TCGA-06-0214-01	TCGA-06-0214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389794.3:c.5418C>T	p.His1806=	p.H1806=	ENST00000389794		1806	caC/caT	0	A:0		1			A	H	uc001hxj.2	protein_coding		CCDS31062.1			5418/11406									ovary(6)|breast(4)|central_nervous_system(2)	12	c.(5416-5418)CAC>CAT			hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF60	lysosomal trafficking regulator			A:0.0001	ENSP00000374443		17/53	6.59E-05					7.51E-05		0.000182	rs146990900,COSM3400477	17/53	.	Chediak-Higashi_syndrome	ENST00000389793	Transcript	1		defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	ENSG00000143669	g.chr1:235940405G>A	1968			LOW								--	--	1																																		LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA	0,1				p.H1806H	NM_000081	NP_000072			0,1	LYST_HUMAN	LYST	HGNC	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)				17	5593	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	UPI000020509E	1806					SNV	LYST,synonymous_variant,p.=,ENST00000389794,;LYST,synonymous_variant,p.=,ENST00000389793,NM_000081.3;LYST,3_prime_UTR_variant,,ENST00000536965,;LYST,non_coding_transcript_exon_variant,,ENST00000489585,;	uc001hxj.2	c.5418C>T	5593/13471	2	2			c.5418C>T						1	SNP	c.(5416-5418)CAC>CAT	20	20			ovary(6)|breast(4)|central_nervous_system(2)	12	Broad	lysosomal trafficking regulator			235940405	Chediak-Higashi_syndrome	0.348	ENSG00000143669	8959	g.chr1:235940405G>A	defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding							-11.115127	KEEP	9	3	-1	100	76	9	3	-1	23.989708	100	76	0.0625	1	0	0	0	0	0	0	1	0	--	--		0	A			LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA	50	GBM-06-0214-TP	p.H1806H	G	CACCAATTTCGTGCAGAATGC	NM_000081	NP_000072	235940405	Q99698	LYST_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		17	5593	-	A	A	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	Silent	1806						
LYST	0	broad.mit.edu	GRCh37	1	235860518	235860518	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-12-0619-01	TCGA-12-0619-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389793.2:c.10429A>G	p.Ser3477Gly	p.S3477G	ENST00000389793	NM_000081.3	3477	Agt/Ggt	0			1			C	S/G	uc001hxj.2	protein_coding		CCDS31062.1			10429/11406									ovary(6)|breast(4)|central_nervous_system(2)	12	c.(10429-10431)AGT>GGT			hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF60	lysosomal trafficking regulator				ENSP00000374443		46/53									COSM2153669	46/53	.	Chediak-Higashi_syndrome	ENST00000389793	Transcript	1		defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	ENSG00000143669	g.chr1:235860518T>C	1968			MODERATE		1.525	low	getma.org/?cm=msa&ty=f&p=LYST_HUMAN&rb=3437&re=3520&var=S3477G	NA	getma.org/?cm=var&var=hg19,1,235860518,T,C&fts=all	S3477G	--	--	1																																		LYST_uc001hxi.2_Missense_Mutation_p.S701G	1			probably_damaging(0.965)	p.S3477G	NM_000081	NP_000072		tolerated(0.18)	1	LYST_HUMAN	LYST	HGNC	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)				46	10604	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	UPI000020509E	3477					SNV	LYST,missense_variant,p.Ser3477Gly,ENST00000389794,;LYST,missense_variant,p.Ser3477Gly,ENST00000389793,NM_000081.3;LYST,non_coding_transcript_exon_variant,,ENST00000473037,;	uc001hxj.2	c.10429A>G	10604/13471	4	4			c.10429A>G						1	SNP	c.(10429-10431)AGT>GGT	48	48			ovary(6)|breast(4)|central_nervous_system(2)	12	Broad	lysosomal trafficking regulator			235860518	Chediak-Higashi_syndrome	0.473	ENSG00000143669	8959	g.chr1:235860518T>C	defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding							107.973923	KEEP	25	23	-1	53	81	25	23	-1	115.975135	53	81	0.264151	1	0	0	0	0	1	0	0	0	--	--		0	C			LYST_uc001hxi.2_Missense_Mutation_p.S701G	120	GBM-12-0619-TP	p.S3477G	T	ACTGGAGCACTGGGGGAACCC	NM_000081	NP_000072	235860518	Q99698	LYST_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		46	10604	-	C	C	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	Missense_Mutation	3477						
LYST	0	broad.mit.edu	GRCh37	1	235866229	235866229	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389793.2:c.10192C>T	p.Arg3398Ter	p.R3398*	ENST00000389793	NM_000081.3	3398	Cga/Tga	0			1			A	R/*	uc001hxj.2	protein_coding		CCDS31062.1			10192/11406									ovary(6)|breast(4)|central_nervous_system(2)	12	c.(10192-10194)CGA>TGA			Gene3D:1t77A02,Pfam_domain:PF02138,PROSITE_profiles:PS50197,hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF60,SMART_domains:SM01026,Superfamily_domains:SSF81837	lysosomal trafficking regulator				ENSP00000374443		45/53									COSM3400475	45/53	.	Chediak-Higashi_syndrome	ENST00000389793	Transcript	1		defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	ENSG00000143669	g.chr1:235866229G>A	1968			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,235866229,G,A&fts=all	R3398*	--	--	1																																		LYST_uc001hxi.2_Nonsense_Mutation_p.R622*	1				p.R3398*	NM_000081	NP_000072			1	LYST_HUMAN	LYST	HGNC	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)				45	10367	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	UPI000020509E	3398			BEACH.		SNV	LYST,stop_gained,p.Arg3398Ter,ENST00000389794,;LYST,stop_gained,p.Arg3398Ter,ENST00000389793,NM_000081.3;LYST,non_coding_transcript_exon_variant,,ENST00000473037,;	uc001hxj.2	c.10192C>T	10367/13471	5	1			c.10192C>T						1	SNP	c.(10192-10194)CGA>TGA	64	64			ovary(6)|breast(4)|central_nervous_system(2)	12	Broad	lysosomal trafficking regulator			235866229	Chediak-Higashi_syndrome	0.453	ENSG00000143669	8959	g.chr1:235866229G>A	defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding							247.147074	KEEP	56	42	-1	121	91	56	42	-1	255.691388	121	91	0.315603	1	0	0	0	0	0	1	0	0	--	--		0	A			LYST_uc001hxi.2_Nonsense_Mutation_p.R622*	125	GBM-12-3649-TP	p.R3398*	G	TCTAGCGCTCGTCTCTGAACT	NM_000081	NP_000072	235866229	Q99698	LYST_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		45	10367	-	A	A	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	Nonsense_Mutation	3398			BEACH.			
LYST	0	broad.mit.edu	GRCh37	1	235866238	235866238	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01	TCGA-14-4157-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389793.2:c.10183G>A	p.Val3395Ile	p.V3395I	ENST00000389793	NM_000081.3	3395	Gtt/Att	0			1			T	V/I	uc001hxj.2	protein_coding		CCDS31062.1			10183/11406									ovary(6)|breast(4)|central_nervous_system(2)	12	c.(10183-10185)GTT>ATT			Gene3D:1t77A02,Pfam_domain:PF02138,PROSITE_profiles:PS50197,hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF60,SMART_domains:SM01026,Superfamily_domains:SSF81837	lysosomal trafficking regulator				ENSP00000374443		45/53									COSM3400476	45/53	.	Chediak-Higashi_syndrome	ENST00000389793	Transcript	1		defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	ENSG00000143669	g.chr1:235866238C>T	1968			MODERATE		0.56	neutral	getma.org/?cm=msa&ty=f&p=LYST_HUMAN&rb=3132&re=3422&var=V3395I	getma.org/pdb.php?prot=LYST_HUMAN&from=3132&to=3422&var=V3395I	getma.org/?cm=var&var=hg19,1,235866238,C,T&fts=all	V3395I	--	--	1																																		LYST_uc001hxi.2_Missense_Mutation_p.V619I	1			probably_damaging(0.98)	p.V3395I	NM_000081	NP_000072		deleterious(0.01)	1	LYST_HUMAN	LYST	HGNC	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)				45	10358	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	UPI000020509E	3395			BEACH.		SNV	LYST,missense_variant,p.Val3395Ile,ENST00000389794,;LYST,missense_variant,p.Val3395Ile,ENST00000389793,NM_000081.3;LYST,non_coding_transcript_exon_variant,,ENST00000473037,;	uc001hxj.2	c.10183G>A	10358/13471	1	1			c.10183G>A						1	SNP	c.(10183-10185)GTT>ATT	7	7			ovary(6)|breast(4)|central_nervous_system(2)	12	Broad	lysosomal trafficking regulator			235866238	Chediak-Higashi_syndrome	0.448	ENSG00000143669	8959	g.chr1:235866238C>T	defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding							-105.958666	KEEP	3	3	-1	223	259	3	3	-1	9.475408	223	259	0.013986	1	0	0	0	0	1	0	0	0	--	--		0	T			LYST_uc001hxi.2_Missense_Mutation_p.V619I	152	GBM-14-4157-TP	p.V3395I	C	CGTCTCTGAACTGGATCTTCA	NM_000081	NP_000072	235866238	Q99698	LYST_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		45	10358	-	T	T	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	Missense_Mutation	3395			BEACH.			
LYST	0	broad.mit.edu	GRCh37	1	235922440	235922440	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01	TCGA-26-5132-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389793.2:c.6713G>A	p.Arg2238Gln	p.R2238Q	ENST00000389793	NM_000081.3	2238	cGa/cAa	0			1			T	R/Q	uc001hxj.2	protein_coding		CCDS31062.1			6713/11406									ovary(6)|breast(4)|central_nervous_system(2)	12	c.(6712-6714)CGA>CAA			hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF60	lysosomal trafficking regulator				ENSP00000374443		23/53									COSM1637821	23/53	.	Chediak-Higashi_syndrome	ENST00000389793	Transcript	1		defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	ENSG00000143669	g.chr1:235922440C>T	1968			MODERATE		1.95	medium	getma.org/?cm=msa&ty=f&p=LYST_HUMAN&rb=1683&re=2859&var=R2238Q	NA	getma.org/?cm=var&var=hg19,1,235922440,C,T&fts=all	R2238Q	--	--	1																																		LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA	1			benign(0.003)	p.R2238Q	NM_000081	NP_000072		tolerated_low_confidence(0.14)	1	LYST_HUMAN	LYST	HGNC	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)				23	6888	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	UPI000020509E	2238					SNV	LYST,missense_variant,p.Arg2238Gln,ENST00000389794,;LYST,missense_variant,p.Arg2238Gln,ENST00000389793,NM_000081.3;LYST,downstream_gene_variant,,ENST00000536965,;LYST,downstream_gene_variant,,ENST00000489585,;	uc001hxj.2	c.6713G>A	6888/13471	2	2			c.6713G>A						1	SNP	c.(6712-6714)CGA>CAA	40	40			ovary(6)|breast(4)|central_nervous_system(2)	12	Broad	lysosomal trafficking regulator			235922440	Chediak-Higashi_syndrome	0.527	ENSG00000143669	8959	g.chr1:235922440C>T	defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding							-13.372194	KEEP	4	4	-1	78	71	4	4	-1	14.187894	78	71	0.053435	1	0	0	0	0	1	0	0	0	--	--		0	T			LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA	181	GBM-26-5132-TP	p.R2238Q	C	GCTGTGGCTTCGCTGGAAGGA	NM_000081	NP_000072	235922440	Q99698	LYST_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		23	6888	-	T	T	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	Missense_Mutation	2238						
LYST	0	broad.mit.edu	GRCh37	1	235993676	235993676	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389793.2:c.42C>T	p.Thr14=	p.T14=	ENST00000389793	NM_000081.3	14	acC/acT	0			1			A	T	uc001hxj.2	protein_coding		CCDS31062.1			42/11406									ovary(6)|breast(4)|central_nervous_system(2)	12	c.(40-42)ACC>ACT			hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF60	lysosomal trafficking regulator				ENSP00000374443		Mar-53	0.000107			0.000349		0.000135		6.08E-05	rs769561565,COSM3400478	Mar-53	.	Chediak-Higashi_syndrome	ENST00000389793	Transcript	1		defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	ENSG00000143669	g.chr1:235993676G>A	1968			LOW								--	--	1																																		LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Silent_p.T14T|LYST_uc001hxm.2_RNA|LYST_uc001hxn.1_Silent_p.T14T	0,1				p.T14T	NM_000081	NP_000072			0,1	LYST_HUMAN	LYST	HGNC	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)				3	217	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	UPI000020509E	14					SNV	LYST,synonymous_variant,p.=,ENST00000389794,;LYST,synonymous_variant,p.=,ENST00000389793,NM_000081.3;LYST,synonymous_variant,p.=,ENST00000536965,;LYST,non_coding_transcript_exon_variant,,ENST00000489585,;LYST,non_coding_transcript_exon_variant,,ENST00000465349,;LYST,non_coding_transcript_exon_variant,,ENST00000468626,;LYST,non_coding_transcript_exon_variant,,ENST00000468107,;	uc001hxj.2	c.42C>T	217/13471	2	2			c.42C>T						1	SNP	c.(40-42)ACC>ACT	21	21			ovary(6)|breast(4)|central_nervous_system(2)	12	Broad	lysosomal trafficking regulator			235993676	Chediak-Higashi_syndrome	0.458	ENSG00000143669	8959	g.chr1:235993676G>A	defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding							77.882692	KEEP	15	13	-1	27	27	15	13	-1	79.711745	27	27	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	A			LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Silent_p.T14T|LYST_uc001hxm.2_RNA|LYST_uc001hxn.1_Silent_p.T14T	232	GBM-32-1982-TP	p.T14T	G	GGTTGACATCGGTCAGAAATT	NM_000081	NP_000072	235993676	Q99698	LYST_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		3	217	-	A	A	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	Silent	14						
LYVE1	10894	broad.mit.edu	GRCh37	11	10580685	10580685	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0169-01	TCGA-06-0169-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256178.3:c.942C>T	p.Thr314=	p.T314=	ENST00000256178	NM_006691.3	314	acC/acT	0		C:0	1	C:0		A	T	uc001miv.2	protein_coding	YES	CCDS7804.1			942/969								p.T314T(1)	central_nervous_system(1)|skin(1)	2	c.(940-942)ACC>ACT			hmmpanther:PTHR10225	lymphatic vessel endothelial hyaluronan receptor		C:0		ENSP00000256178	C:0	6-Jun	1.65E-05	9.61E-05				1.50E-05			rs553314813,COSM42678	6-Jun	.		ENST00000256178	Transcript		C:0.0002	anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction		ENSG00000133800	g.chr11:10580685G>A	14687			LOW								--	--	1																																		uc001miu.2_Intron|LYVE1_uc010rca.1_Silent_p.T210T	0,1	1			p.T314T	NM_006691	NP_006682	C:0.001		0,1	LYVE1_HUMAN	LYVE1	HGNC	Q9Y5Y7	LYVE1_HUMAN		all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)	B2R672_HUMAN		6	1228	-			UPI00000389CD	314			Cytoplasmic (Potential).		SNV	LYVE1,synonymous_variant,p.=,ENST00000256178,NM_006691.3;LYVE1,synonymous_variant,p.=,ENST00000529598,;MRVI1-AS1,intron_variant,,ENST00000529979,;MRVI1-AS1,intron_variant,,ENST00000529829,;LYVE1,downstream_gene_variant,,ENST00000531706,;LYVE1,3_prime_UTR_variant,,ENST00000438354,;	uc001miv.2	c.942C>T	1101/3273	1	1			c.942C>T						11	SNP	c.(940-942)ACC>ACT	55	55		p.T314T(1)	central_nervous_system(1)|skin(1)	2	Broad	lymphatic vessel endothelial hyaluronan receptor			10580685		0.463	ENSG00000133800	8960	g.chr11:10580685G>A	anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction								348.198219	KEEP	81	60	-1	233	186	81	60	-1	374.438813	233	186	0.25567	1	0	0	0	0	0	0	1	0	--	--		0	A			uc001miu.2_Intron|LYVE1_uc010rca.1_Silent_p.T210T	34	GBM-06-0169-TP	p.T314T	G	GGCATCGCACGGTAGTTTTGC	NM_006691	NP_006682	10580685	Q9Y5Y7	LYVE1_HUMAN	0		all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)	6	1228	-	A	A			Silent	314			Cytoplasmic (Potential).			
LZTR1	8216	broad.mit.edu	GRCh37	22	21351542	21351542	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01	TCGA-06-0188-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000215739.8:c.2428C>T	p.Arg810Trp	p.R810W	ENST00000215739	NM_006767.3	810	Cgg/Tgg	0			1			T	R/W	uc002zto.2	protein_coding	YES	CCDS33606.1			2428/2523									ovary(2)|lung(2)	4	c.(2428-2430)CGG>TGG			hmmpanther:PTHR23244:SF15,hmmpanther:PTHR23244	leucine-zipper-like transcription regulator 1				ENSP00000215739		21/21	4.94E-05			0.000116		7.53E-05			rs776893978,COSM1032428	21/21	.		ENST00000215739	Transcript	1		anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	ENSG00000099949	g.chr22:21351542C>T	6742			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=LZTR1_HUMAN&rb=766&re=840&var=R810W	NA	getma.org/?cm=var&var=hg19,22,21351542,C,T&fts=all	R810W	--	--	1																																		LZTR1_uc002ztn.2_Missense_Mutation_p.R769W|LZTR1_uc011ahy.1_Missense_Mutation_p.R791W|LZTR1_uc002ztp.2_3'UTR	0,1	1		possibly_damaging(0.794)	p.R810W	NM_006767	NP_006758		deleterious(0)	0,1	LZTR1_HUMAN	LZTR1	HGNC	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		B2R8T5_HUMAN		21	2531	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	UPI000013C695	810					SNV	LZTR1,missense_variant,p.Arg810Trp,ENST00000215739,NM_006767.3;LZTR1,missense_variant,p.Arg791Trp,ENST00000389355,;LZTR1,3_prime_UTR_variant,,ENST00000415817,;THAP7,downstream_gene_variant,,ENST00000215742,NM_030573.2;THAP7,downstream_gene_variant,,ENST00000399133,NM_001008695.1;THAP7-AS1,upstream_gene_variant,,ENST00000452284,;THAP7-AS1,upstream_gene_variant,,ENST00000436079,;THAP7-AS1,upstream_gene_variant,,ENST00000429962,;LZTR1,non_coding_transcript_exon_variant,,ENST00000479606,;LZTR1,downstream_gene_variant,,ENST00000497716,;LZTR1,3_prime_UTR_variant,,ENST00000452988,;LZTR1,non_coding_transcript_exon_variant,,ENST00000463909,;LZTR1,non_coding_transcript_exon_variant,,ENST00000498649,;THAP7,downstream_gene_variant,,ENST00000498406,;THAP7,downstream_gene_variant,,ENST00000471073,;THAP7,downstream_gene_variant,,ENST00000476667,;THAP7,downstream_gene_variant,,ENST00000466670,;LZTR1,downstream_gene_variant,,ENST00000495142,;LZTR1,downstream_gene_variant,,ENST00000492480,;THAP7,downstream_gene_variant,,ENST00000471723,;LZTR1,downstream_gene_variant,,ENST00000415354,;LZTR1,downstream_gene_variant,,ENST00000439171,;LZTR1,downstream_gene_variant,,ENST00000464807,;LZTR1,downstream_gene_variant,,ENST00000491432,;THAP7,downstream_gene_variant,,ENST00000488975,;LZTR1,downstream_gene_variant,,ENST00000461510,;	uc002zto.2	c.2428C>T	2787/4572	2	2			c.2428C>T						22	SNP	c.(2428-2430)CGG>TGG	28	28			ovary(2)|lung(2)	4	Broad	leucine-zipper-like transcription regulator 1			21351542		0.642	ENSG00000099949	8968	g.chr22:21351542C>T	anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity		p.R810W(EHEB-Tumor)|p.R810W(HCC2279-Tumor)	1299		p.R810W(EHEB-Tumor)|p.R810W(HCC2279-Tumor)	1299	83.133782	KEEP	15	13	-1	7	10	15	13	-1	83.888836	7	10	0.642857	1	0	0	0	0	1	0	0	0	--	--		0	T			LZTR1_uc002ztn.2_Missense_Mutation_p.R769W|LZTR1_uc011ahy.1_Missense_Mutation_p.R791W|LZTR1_uc002ztp.2_3'UTR	41	GBM-06-0188-TP	p.R810W	C	GCCCACCCTGCGGTCGCTGAG	NM_006767	NP_006758	21351542	Q8N653	LZTR1_HUMAN	0	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		21	2531	+	T	T	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	Missense_Mutation	810						
LZTR1	8216	broad.mit.edu	GRCh37	22	21340179	21340179	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-2562-01	TCGA-06-2562-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000215739.8:c.313T>C	p.Trp105Arg	p.W105R	ENST00000215739	NM_006767.3	105	Tgg/Cgg	0			1			C	W/R	uc002zto.2	protein_coding	YES	CCDS33606.1			313/2523								p.W105L(1)	ovary(2)|lung(2)	4	c.(313-315)TGG>CGG			hmmpanther:PTHR23244:SF15,hmmpanther:PTHR23244,Pfam_domain:PF13415,SMART_domains:SM00612,Superfamily_domains:0052715	leucine-zipper-like transcription regulator 1				ENSP00000215739		21-Mar									COSM2152827	21-Mar	.		ENST00000215739	Transcript	1		anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	ENSG00000099949	g.chr22:21340179T>C	6742			MODERATE		4.36	high	getma.org/?cm=msa&ty=f&p=LZTR1_HUMAN&rb=77&re=126&var=W105R	NA	getma.org/?cm=var&var=hg19,22,21340179,T,C&fts=all	W105R	--	--	1																																		LZTR1_uc002ztn.2_Missense_Mutation_p.W64R|LZTR1_uc011ahy.1_Intron|LZTR1_uc010gsr.1_5'Flank	1	1		probably_damaging(1)	p.W105R	NM_006767	NP_006758		deleterious(0)	1	LZTR1_HUMAN	LZTR1	HGNC	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		B2R8T5_HUMAN		3	416	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	UPI000013C695	105			Kelch 1.		SNV	LZTR1,missense_variant,p.Trp105Arg,ENST00000215739,NM_006767.3;LZTR1,intron_variant,,ENST00000389355,;AIFM3,downstream_gene_variant,,ENST00000399167,NM_144704.2;AIFM3,downstream_gene_variant,,ENST00000405089,NM_001146288.1;AIFM3,downstream_gene_variant,,ENST00000399163,NM_001018060.2;AIFM3,downstream_gene_variant,,ENST00000440238,;AIFM3,downstream_gene_variant,,ENST00000333607,;AIFM3,downstream_gene_variant,,ENST00000335375,;XXbac-B135H6.18,upstream_gene_variant,,ENST00000610278,;LZTR1,non_coding_transcript_exon_variant,,ENST00000479606,;AIFM3,downstream_gene_variant,,ENST00000465606,;AIFM3,downstream_gene_variant,,ENST00000483107,;LZTR1,upstream_gene_variant,,ENST00000497716,;LZTR1,upstream_gene_variant,,ENST00000480895,;LZTR1,missense_variant,p.Trp105Arg,ENST00000414985,;LZTR1,3_prime_UTR_variant,,ENST00000443265,;LZTR1,non_coding_transcript_exon_variant,,ENST00000493460,;AIFM3,downstream_gene_variant,,ENST00000486003,;	uc002zto.2	c.313T>C	672/4572	4	4			c.313T>C						22	SNP	c.(313-315)TGG>CGG	43	43		p.W105L(1)	ovary(2)|lung(2)	4	Broad	leucine-zipper-like transcription regulator 1			21340179		0.582	ENSG00000099949	8968	g.chr22:21340179T>C	anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			1299			1299	87.215241	KEEP	22	11	-1	13	19	22	11	-1	87.252928	13	19	0.529412	1	0	0	0	0	1	0	0	0	--	--		0	C			LZTR1_uc002ztn.2_Missense_Mutation_p.W64R|LZTR1_uc011ahy.1_Intron|LZTR1_uc010gsr.1_5'Flank	85	GBM-06-2562-TP	p.W105R	T	AGACTGCTCCTGGTGCAGGTG	NM_006767	NP_006758	21340179	Q8N653	LZTR1_HUMAN	0	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		3	416	+	C	C	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	Missense_Mutation	105			Kelch 1.			
LZTR1	8216	broad.mit.edu	GRCh37	22	21349003	21349003	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-5856-01	TCGA-06-5856-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000215739.8:c.1772T>G	p.Leu591Arg	p.L591R	ENST00000215739	NM_006767.3	591	cTg/cGg	0			1			G	L/R	uc002zto.2	protein_coding	YES	CCDS33606.1			1772/2523									ovary(2)|lung(2)	4	c.(1771-1773)CTG>CGG			hmmpanther:PTHR23244:SF15,hmmpanther:PTHR23244,Superfamily_domains:SSF54695	leucine-zipper-like transcription regulator 1				ENSP00000215739		15/21									COSM3405531	15/21	.		ENST00000215739	Transcript	1		anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	ENSG00000099949	g.chr22:21349003T>G	6742			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=LZTR1_HUMAN&rb=574&re=655&var=L591R	NA	getma.org/?cm=var&var=hg19,22,21349003,T,G&fts=all	L591R	--	--	1																																		LZTR1_uc002ztn.2_Missense_Mutation_p.L550R|LZTR1_uc011ahy.1_Missense_Mutation_p.L572R|LZTR1_uc002ztp.2_5'Flank	1	1		probably_damaging(0.996)	p.L591R	NM_006767	NP_006758		deleterious(0.01)	1	LZTR1_HUMAN	LZTR1	HGNC	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		B2R8T5_HUMAN		15	1875	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	UPI000013C695	591					SNV	LZTR1,missense_variant,p.Leu591Arg,ENST00000215739,NM_006767.3;LZTR1,missense_variant,p.Leu572Arg,ENST00000389355,;LZTR1,upstream_gene_variant,,ENST00000415817,;LZTR1,non_coding_transcript_exon_variant,,ENST00000479606,;LZTR1,downstream_gene_variant,,ENST00000497716,;LZTR1,downstream_gene_variant,,ENST00000480895,;LZTR1,missense_variant,p.Leu19Arg,ENST00000439171,;LZTR1,synonymous_variant,p.=,ENST00000415354,;LZTR1,non_coding_transcript_exon_variant,,ENST00000495142,;LZTR1,non_coding_transcript_exon_variant,,ENST00000464807,;LZTR1,non_coding_transcript_exon_variant,,ENST00000491432,;LZTR1,upstream_gene_variant,,ENST00000463909,;THAP7,downstream_gene_variant,,ENST00000498406,;LZTR1,upstream_gene_variant,,ENST00000498649,;LZTR1,upstream_gene_variant,,ENST00000452988,;LZTR1,downstream_gene_variant,,ENST00000414985,;LZTR1,downstream_gene_variant,,ENST00000492480,;LZTR1,downstream_gene_variant,,ENST00000461510,;	uc002zto.2	c.1772T>G	2131/4572	4	4			c.1772T>G						22	SNP	c.(1771-1773)CTG>CGG	28	28			ovary(2)|lung(2)	4	Broad	leucine-zipper-like transcription regulator 1			21349003		0.667	ENSG00000099949	8968	g.chr22:21349003T>G	anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			1299			1299	6.044888	KEEP	5	0	-1	21	21	5	0	-1	11.788663	21	21	0.121951	1	0	0	0	0	1	0	0	0	--	--		0	G			LZTR1_uc002ztn.2_Missense_Mutation_p.L550R|LZTR1_uc011ahy.1_Missense_Mutation_p.L572R|LZTR1_uc002ztp.2_5'Flank	101	GBM-06-5856-TP	p.L591R	T	CGGCTGCAGCTGAGCCAACTC	NM_006767	NP_006758	21349003	Q8N653	LZTR1_HUMAN	0	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		15	1875	+	G	G	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	Missense_Mutation	591						
LZTR1	0	broad.mit.edu	GRCh37	22	21343151	21343151	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01	TCGA-32-1977-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000215739.8:c.583G>A	p.Gly195Ser	p.G195S	ENST00000215739	NM_006767.3	195	Ggc/Agc	0			1			A	G/S	uc002zto.2	protein_coding	YES	CCDS33606.1			583/2523									ovary(2)|lung(2)	4	c.(583-585)GGC>AGC			hmmpanther:PTHR23244:SF15,hmmpanther:PTHR23244,Gene3D:1zgkA00,Pfam_domain:PF13415,Superfamily_domains:0052715	leucine-zipper-like transcription regulator 1				ENSP00000215739		21-Jun	1.65E-05					3.01E-05			rs758338373,COSM3405529	21-Jun	.		ENST00000215739	Transcript	1		anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	ENSG00000099949	g.chr22:21343151G>A	6742			MODERATE		3.045	medium	getma.org/?cm=msa&ty=f&p=LZTR1_HUMAN&rb=184&re=236&var=G195S	NA	getma.org/?cm=var&var=hg19,22,21343151,G,A&fts=all	G195S	--	--	1																																		LZTR1_uc002ztn.2_Missense_Mutation_p.G154S|LZTR1_uc011ahy.1_Missense_Mutation_p.G176S|LZTR1_uc010gsr.1_Missense_Mutation_p.G66S	0,1	1		probably_damaging(1)	p.G195S	NM_006767	NP_006758		deleterious(0)	0,1	LZTR1_HUMAN	LZTR1	HGNC	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		B2R8T5_HUMAN		6	686	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	UPI000013C695	195			Kelch 3.		SNV	LZTR1,missense_variant,p.Gly195Ser,ENST00000215739,NM_006767.3;LZTR1,missense_variant,p.Gly176Ser,ENST00000389355,;LZTR1,non_coding_transcript_exon_variant,,ENST00000479606,;LZTR1,non_coding_transcript_exon_variant,,ENST00000480895,;LZTR1,upstream_gene_variant,,ENST00000497716,;LZTR1,3_prime_UTR_variant,,ENST00000414985,;LZTR1,3_prime_UTR_variant,,ENST00000443265,;LZTR1,upstream_gene_variant,,ENST00000492480,;LZTR1,upstream_gene_variant,,ENST00000461510,;LZTR1,downstream_gene_variant,,ENST00000493460,;	uc002zto.2	c.583G>A	942/4572	2	2			c.583G>A						22	SNP	c.(583-585)GGC>AGC	47	47			ovary(2)|lung(2)	4	Broad	leucine-zipper-like transcription regulator 1			21343151		0.637	ENSG00000099949	8968	g.chr22:21343151G>A	anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity		p.G195S(PF382-Tumor)	1299		p.G195S(PF382-Tumor)	1299	83.257549	KEEP	24	20	-1	75	96	24	20	-1	100.32498	75	96	0.19171	1	0	0	0	0	1	0	0	0	--	--		0	A			LZTR1_uc002ztn.2_Missense_Mutation_p.G154S|LZTR1_uc011ahy.1_Missense_Mutation_p.G176S|LZTR1_uc010gsr.1_Missense_Mutation_p.G66S	229	GBM-32-1977-TP	p.G195S	G	TGGCTATGACGGCAACGCCAG	NM_006767	NP_006758	21343151	Q8N653	LZTR1_HUMAN	0	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		6	686	+	A	A	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	Missense_Mutation	195			Kelch 3.			
LZTR1	0	broad.mit.edu	GRCh37	22	21341825	21341825	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4209-01	TCGA-32-4209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000215739.8:c.353G>A	p.Arg118His	p.R118H	ENST00000215739	NM_006767.3	118	cGt/cAt	0			1			A	R/H	uc002zto.2	protein_coding	YES	CCDS33606.1			353/2523									ovary(2)|lung(2)	4	c.(352-354)CGT>CAT			hmmpanther:PTHR23244:SF15,hmmpanther:PTHR23244,Gene3D:1zgkA00,Pfam_domain:PF13415,SMART_domains:SM00612,Superfamily_domains:0052715	leucine-zipper-like transcription regulator 1				ENSP00000215739		21-Apr	2.47E-05					1.51E-05		0.000121	rs769001939,COSM3308552	21-Apr	.		ENST00000215739	Transcript	1		anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	ENSG00000099949	g.chr22:21341825G>A	6742			MODERATE		3.68	high	getma.org/?cm=msa&ty=f&p=LZTR1_HUMAN&rb=114&re=152&var=R118H	NA	getma.org/?cm=var&var=hg19,22,21341825,G,A&fts=all	R118H	--	--	1																																		LZTR1_uc002ztn.2_Missense_Mutation_p.R77H|LZTR1_uc011ahy.1_Missense_Mutation_p.R99H|LZTR1_uc010gsr.1_5'UTR	0,1	1		probably_damaging(1)	p.R118H	NM_006767	NP_006758		deleterious(0)	0,1	LZTR1_HUMAN	LZTR1	HGNC	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		B2R8T5_HUMAN		4	456	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	UPI000013C695	118			Kelch 1.		SNV	LZTR1,missense_variant,p.Arg118His,ENST00000215739,NM_006767.3;LZTR1,missense_variant,p.Arg99His,ENST00000389355,;LZTR1,non_coding_transcript_exon_variant,,ENST00000479606,;LZTR1,intron_variant,,ENST00000480895,;LZTR1,upstream_gene_variant,,ENST00000497716,;LZTR1,3_prime_UTR_variant,,ENST00000443265,;LZTR1,intron_variant,,ENST00000414985,;LZTR1,upstream_gene_variant,,ENST00000492480,;LZTR1,upstream_gene_variant,,ENST00000461510,;LZTR1,downstream_gene_variant,,ENST00000493460,;	uc002zto.2	c.353G>A	712/4572	2	2			c.353G>A						22	SNP	c.(352-354)CGT>CAT	20	20			ovary(2)|lung(2)	4	Broad	leucine-zipper-like transcription regulator 1			21341825		0.662	ENSG00000099949	8968	g.chr22:21341825G>A	anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity		p.R118H(HEC1B-Tumor)|p.R118H(HEC1A-Tumor)	1299		p.R118H(HEC1B-Tumor)|p.R118H(HEC1A-Tumor)	1299	139.704136	KEEP	29	30	-1	38	52	29	30	-1	140.802085	38	52	0.4	1	0	0	0	0	1	0	0	0	--	--		0	A			LZTR1_uc002ztn.2_Missense_Mutation_p.R77H|LZTR1_uc011ahy.1_Missense_Mutation_p.R99H|LZTR1_uc010gsr.1_5'UTR	244	GBM-32-4209-TP	p.R118H	G	CCGGCCCCCCGTTACCACCAC	NM_006767	NP_006758	21341825	Q8N653	LZTR1_HUMAN	0	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		4	456	+	A	A	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	Missense_Mutation	118			Kelch 1.			
LZTR1	0	broad.mit.edu	GRCh37	22	21345975	21345975	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-4210-01	TCGA-32-4210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000215739.8:c.850C>A	p.Arg284Ser	p.R284S	ENST00000215739	NM_006767.3	284	Cgc/Agc	0			1			A	R/S	uc002zto.2	protein_coding	YES	CCDS33606.1			850/2523									ovary(2)|lung(2)	4	c.(850-852)CGC>AGC			hmmpanther:PTHR23244:SF15,hmmpanther:PTHR23244,Pfam_domain:PF01344,Gene3D:1zgkA00,SMART_domains:SM00612,Superfamily_domains:0052715	leucine-zipper-like transcription regulator 1				ENSP00000215739		21-Sep									COSM3405530	21-Sep	.		ENST00000215739	Transcript	1		anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	ENSG00000099949	g.chr22:21345975C>A	6742			MODERATE		3.73	high	getma.org/?cm=msa&ty=f&p=LZTR1_HUMAN&rb=283&re=328&var=R284S	NA	getma.org/?cm=var&var=hg19,22,21345975,C,A&fts=all	R284S	--	--	1																																		LZTR1_uc002ztn.2_Missense_Mutation_p.R243S|LZTR1_uc011ahy.1_Missense_Mutation_p.R265S|LZTR1_uc010gsr.1_Missense_Mutation_p.R155S	1	1		probably_damaging(1)	p.R284S	NM_006767	NP_006758		deleterious(0)	1	LZTR1_HUMAN	LZTR1	HGNC	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		B2R8T5_HUMAN		9	953	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	UPI000013C695	284			Kelch 4.		SNV	LZTR1,missense_variant,p.Arg284Ser,ENST00000215739,NM_006767.3;LZTR1,missense_variant,p.Arg265Ser,ENST00000389355,;LZTR1,upstream_gene_variant,,ENST00000415817,;LZTR1,non_coding_transcript_exon_variant,,ENST00000479606,;LZTR1,non_coding_transcript_exon_variant,,ENST00000497716,;LZTR1,downstream_gene_variant,,ENST00000480895,;LZTR1,upstream_gene_variant,,ENST00000463909,;LZTR1,upstream_gene_variant,,ENST00000498649,;LZTR1,upstream_gene_variant,,ENST00000452988,;LZTR1,downstream_gene_variant,,ENST00000414985,;LZTR1,upstream_gene_variant,,ENST00000495142,;LZTR1,downstream_gene_variant,,ENST00000443265,;LZTR1,upstream_gene_variant,,ENST00000492480,;LZTR1,upstream_gene_variant,,ENST00000415354,;LZTR1,upstream_gene_variant,,ENST00000439171,;LZTR1,upstream_gene_variant,,ENST00000464807,;LZTR1,upstream_gene_variant,,ENST00000491432,;LZTR1,upstream_gene_variant,,ENST00000461510,;	uc002zto.2	c.850C>A	1209/4572	2	2			c.850C>A						22	SNP	c.(850-852)CGC>AGC	21	21			ovary(2)|lung(2)	4	Broad	leucine-zipper-like transcription regulator 1			21345975		0.632	ENSG00000099949	8968	g.chr22:21345975C>A	anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity		p.R284C(GP2D-Tumor)	1299		p.R284C(GP2D-Tumor)	1299	27.23987	KEEP	4	7	0.636363636	1	4	4	7	0.636363636	27.568495	1	4	0.666667	1	0	0	0	0	1	0	0	0	--	--		0	A			LZTR1_uc002ztn.2_Missense_Mutation_p.R243S|LZTR1_uc011ahy.1_Missense_Mutation_p.R265S|LZTR1_uc010gsr.1_Missense_Mutation_p.R155S	245	GBM-32-4210-TP	p.R284S	C	CCCGCAGCGGCGCTACGGGCA	NM_006767	NP_006758	21345975	Q8N653	LZTR1_HUMAN	0	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		9	953	+	A	A	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	Missense_Mutation	284			Kelch 4.			
LZTR1	8216		GRCh37	22	21342314	21342314	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000215739.8:c.416A>C	p.Asp139Ala	p.D139A	ENST00000215739	NM_006767.3	139	gAc/gCc	0																																																																																																																																																																																																																																												
LZTR1	8216		GRCh37	22	21349215	21349217	+	inframe_deletion	In_Frame_Del	DEL	GAA	GAA	-			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000215739.8:c.1843_1845del	p.Lys615del	p.K615del	ENST00000215739	NM_006767.3	614	atGAAg/atg	0																																																																																																																																																																																																																																												
LZTR1	8216		GRCh37	22	21342326	21342326	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000215739.8:c.428A>C	p.Asn143Thr	p.N143T	ENST00000215739	NM_006767.3	143	aAt/aCt	0																																																																																																																																																																																																																																												
LZTS3	0	broad.mit.edu	GRCh37	20	3146165	3146165	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4210-01	TCGA-32-4210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329152.3:c.1301G>A	p.Arg434Gln	p.R434Q	ENST00000329152	NM_014731.2	434	cGg/cAg	0			1			T	R/Q	uc002wia.1	protein_coding	YES				1301/2022									pancreas(1)	1	c.(1300-1302)CGG>CAG			hmmpanther:PTHR19354,hmmpanther:PTHR19354:SF6	ProSAPiP1 protein				ENSP00000332123		3-Feb									COSM3405021	3-Feb	.		ENST00000329152	Transcript				cell junction|cytoplasm|postsynaptic density|postsynaptic membrane		ENSG00000088899	g.chr20:3146165C>T				MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=PRIP1_HUMAN&rb=401&re=437&var=R434Q	NA	getma.org/?cm=var&var=hg19,20,3146165,C,T&fts=all	R434Q	--	--	1																																		ProSAPiP1_uc002wib.1_Missense_Mutation_p.R388Q	1	1		benign(0.244)	p.R434Q	NM_014731	NP_055546		deleterious(0.01)	1	LZTS3_HUMAN	LZTS3	Uniprot_gn	O60299	PRIP1_HUMAN					2	2699	-			UPI0000139A8C	434			Potential.		SNV	LZTS3,missense_variant,p.Arg434Gln,ENST00000329152,NM_014731.2;LZTS3,missense_variant,p.Arg388Gln,ENST00000337576,;LZTS3,missense_variant,p.Arg388Gln,ENST00000360342,NM_001282533.1;	uc002wia.1	c.1301G>A	2699/5257	2	2			c.1301G>A						20	SNP	c.(1300-1302)CGG>CAG	42	42			pancreas(1)	1	Broad	ProSAPiP1 protein			3146165		0.662	ENSG00000088899	12660	g.chr20:3146165C>T		cell junction|cytoplasm|postsynaptic density|postsynaptic membrane								82.15276	KEEP	16	19	-1	37	62	16	19	-1	87.081356	37	62	0.280702	1	0	0	0	0	1	0	0	0	--	--		0	T			ProSAPiP1_uc002wib.1_Missense_Mutation_p.R388Q	245	GBM-32-4210-TP	p.R434Q	C	TTCCTCTATCCGGGGCAGGAA	NM_014731	NP_055546	3146165	O60299	PRIP1_HUMAN	0			2	2699	-	T	T			Missense_Mutation	434			Potential.			
M1AP	130951	broad.mit.edu	GRCh37	2	74787316	74787316	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01	TCGA-06-0876-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290536.5:c.1384C>T	p.Arg462Trp	p.R462W	ENST00000290536	NM_138804.4	462	Cgg/Tgg	0		A:0.0008	1	A:0		A	R/W	uc002smy.2	protein_coding	YES	CCDS33229.1			1384/1593									ovary(1)|pancreas(1)	2	c.(1384-1386)CGG>TGG				hypothetical protein LOC130951		A:0		ENSP00000290536	A:0	11-Sep	4.94E-05	9.65E-05		0.000578					rs540346738,COSM3407992	11-Sep	common_variant		ENST00000290536	Transcript		A:0.0002	chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane		ENSG00000159374	g.chr2:74787316G>A	25183			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=CB065_HUMAN&rb=266&re=528&var=R462W	NA	getma.org/?cm=var&var=hg19,2,74787316,G,A&fts=all	R462W	--	--	1																																		C2orf65_uc010ysa.1_Missense_Mutation_p.R462W|C2orf65_uc010ffp.2_Missense_Mutation_p.R111W|C2orf65_uc002smx.2_Missense_Mutation_p.R218W	0,1	1		probably_damaging(0.927)	p.R462W	NM_138804	NP_620159	A:0	deleterious(0.01)	0,1	M1AP_HUMAN	M1AP	HGNC	Q8TC57	CB065_HUMAN			C9JPR9_HUMAN		9	1501	-			UPI0000072570	462					SNV	M1AP,missense_variant,p.Arg462Trp,ENST00000290536,NM_138804.4;M1AP,missense_variant,p.Arg462Trp,ENST00000409585,;M1AP,missense_variant,p.Arg462Trp,ENST00000536235,NM_001281296.1;M1AP,missense_variant,p.Arg111Trp,ENST00000358434,;DOK1,downstream_gene_variant,,ENST00000233668,NM_001381.3;DOK1,downstream_gene_variant,,ENST00000409429,NM_001197260.1;DOK1,downstream_gene_variant,,ENST00000340004,;LOXL3,upstream_gene_variant,,ENST00000413469,;M1AP,non_coding_transcript_exon_variant,,ENST00000464686,;M1AP,intron_variant,,ENST00000485997,;DOK1,downstream_gene_variant,,ENST00000480318,;DOK1,downstream_gene_variant,,ENST00000489958,;DOK1,downstream_gene_variant,,ENST00000496966,;DOK1,downstream_gene_variant,,ENST00000485132,;DOK1,downstream_gene_variant,,ENST00000488613,;DOK1,downstream_gene_variant,,ENST00000464613,;DOK1,downstream_gene_variant,,ENST00000429631,;DOK1,downstream_gene_variant,,ENST00000482206,;DOK1,downstream_gene_variant,,ENST00000474924,;DOK1,downstream_gene_variant,,ENST00000475191,;	uc002smy.2	c.1384C>T	1501/2543	1	1			c.1384C>T						2	SNP	c.(1384-1386)CGG>TGG	63	63			ovary(1)|pancreas(1)	2	Broad	hypothetical protein LOC130951			74787316		0.473	ENSG00000159374	2140	g.chr2:74787316G>A	chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane								2.745565	KEEP	6	0	-1	51	20	6	0	-1	10.226632	51	20	0.104167	1	0	0	0	0	1	0	0	0	--	--		0	A			C2orf65_uc010ysa.1_Missense_Mutation_p.R462W|C2orf65_uc010ffp.2_Missense_Mutation_p.R111W|C2orf65_uc002smx.2_Missense_Mutation_p.R218W	72	GBM-06-0876-TP	p.R462W	G	GGGTGGAGCCGCCCCTGAGGC	NM_138804	NP_620159	74787316	Q8TC57	CB065_HUMAN	0			9	1501	-	A	A			Missense_Mutation	462						
M1AP	0	broad.mit.edu	GRCh37	2	74842218	74842218	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-41-5651-01	TCGA-41-5651-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290536.5:c.299A>G	p.Gln100Arg	p.Q100R	ENST00000290536	NM_138804.4	100	cAg/cGg	0			1			C	Q/R	uc002smy.2	protein_coding	YES	CCDS33229.1			299/1593									ovary(1)|pancreas(1)	2	c.(298-300)CAG>CGG				hypothetical protein LOC130951				ENSP00000290536		11-Mar	8.24E-06		8.64E-05						rs773033828,COSM3407993	11-Mar	.		ENST00000290536	Transcript			chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane		ENSG00000159374	g.chr2:74842218T>C	25183			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=CB065_HUMAN&rb=9&re=214&var=Q100R	NA	getma.org/?cm=var&var=hg19,2,74842218,T,C&fts=all	Q100R	--	--	1																																		C2orf65_uc010ysa.1_Missense_Mutation_p.Q100R|C2orf65_uc002smz.2_Missense_Mutation_p.Q100R	0,1	1		benign(0.003)	p.Q100R	NM_138804	NP_620159		deleterious(0.01)	0,1	M1AP_HUMAN	M1AP	HGNC	Q8TC57	CB065_HUMAN			C9JPR9_HUMAN		3	416	-			UPI0000072570	100					SNV	M1AP,missense_variant,p.Gln100Arg,ENST00000290536,NM_138804.4;M1AP,missense_variant,p.Gln100Arg,ENST00000409585,;M1AP,missense_variant,p.Gln100Arg,ENST00000536235,NM_001281296.1;M1AP,missense_variant,p.Gln100Arg,ENST00000421985,;M1AP,5_prime_UTR_variant,,ENST00000358434,;M1AP,non_coding_transcript_exon_variant,,ENST00000478437,;M1AP,missense_variant,p.Gln100Arg,ENST00000422394,;M1AP,intron_variant,,ENST00000438226,;AC005033.6,downstream_gene_variant,,ENST00000428904,;	uc002smy.2	c.299A>G	416/2543	3	3			c.299A>G						2	SNP	c.(298-300)CAG>CGG	52	52			ovary(1)|pancreas(1)	2	Broad	hypothetical protein LOC130951			74842218		0.483	ENSG00000159374	2140	g.chr2:74842218T>C	chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane								196.783871	KEEP	28	42	-1	25	30	28	42	-1	196.979428	25	30	0.545455	1	0	0	0	0	1	0	0	0	--	--		0	C			C2orf65_uc010ysa.1_Missense_Mutation_p.Q100R|C2orf65_uc002smz.2_Missense_Mutation_p.Q100R	258	GBM-41-5651-TP	p.Q100R	T	CCCTTCTCTCTGTAACATGCG	NM_138804	NP_620159	74842218	Q8TC57	CB065_HUMAN	0			3	416	-	C	C			Missense_Mutation	100						
MAATS1	0	broad.mit.edu	GRCh37	3	119462994	119462994	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01	TCGA-76-4934-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273390.5:c.1853G>A	p.Arg618His	p.R618H	ENST00000273390	NM_033364.3	618	cGc/cAc	0			1			A	R/H	uc003ede.3	protein_coding	YES	CCDS2994.1			1853/2304									ovary(2)|pancreas(1)	3	c.(1852-1854)CGC>CAC			hmmpanther:PTHR22455:SF10,hmmpanther:PTHR22455	AAT1-alpha				ENSP00000273390		14/18	8.24E-06		8.65E-05						rs766630522,COSM3120191	14/18	.		ENST00000273390	Transcript				mitochondrion	protein binding	ENSG00000183833	g.chr3:119462994G>A	24010			MODERATE		2.86	medium	getma.org/?cm=msa&ty=f&p=AAT1_HUMAN&rb=1&re=601&var=R454H	NA	getma.org/?cm=var&var=hg19,3,119462994,G,A&fts=all	R454H	--	--	1																																		C3orf15_uc010hqz.2_Missense_Mutation_p.R556H|C3orf15_uc011bjd.1_Missense_Mutation_p.R492H|C3orf15_uc011bje.1_Missense_Mutation_p.R598H	0,1	1		probably_damaging(1)	p.R618H	NM_033364	NP_203528		deleterious(0)	0,1	MAAT1_HUMAN	MAATS1	HGNC	Q7Z4T9	AAT1_HUMAN		GBM - Glioblastoma multiforme(114;0.186)			14	1930	+			UPI00001C1DFE	454					SNV	MAATS1,missense_variant,p.Arg618His,ENST00000273390,NM_033364.3;RP11-169N13.4,non_coding_transcript_exon_variant,,ENST00000489428,;MAATS1,upstream_gene_variant,,ENST00000470948,;MAATS1,3_prime_UTR_variant,,ENST00000482573,;MAATS1,3_prime_UTR_variant,,ENST00000482927,;MAATS1,3_prime_UTR_variant,,ENST00000475093,;MAATS1,downstream_gene_variant,,ENST00000483134,;MAATS1,downstream_gene_variant,,ENST00000468630,;MAATS1,downstream_gene_variant,,ENST00000461322,;	uc003ede.3	c.1853G>A	1930/4433	2	2			c.1853G>A						3	SNP	c.(1852-1854)CGC>CAC	33	33			ovary(2)|pancreas(1)	3	Broad	AAT1-alpha			119462994		0.592	ENSG00000183833	2165	g.chr3:119462994G>A		mitochondrion	protein binding							237.166544	KEEP	35	52	-1	45	31	35	52	-1	237.280546	45	31	0.529412	1	0	0	0	0	1	0	0	0	--	--		0	A			C3orf15_uc010hqz.2_Missense_Mutation_p.R556H|C3orf15_uc011bjd.1_Missense_Mutation_p.R492H|C3orf15_uc011bje.1_Missense_Mutation_p.R598H	272	GBM-76-4934-TP	p.R618H	G	AGTGGTCGGCGCCAGGTGGAA	NM_033364	NP_203528	119462994	Q7Z4T9	AAT1_HUMAN	0		GBM - Glioblastoma multiforme(114;0.186)	14	1930	+	A	A			Missense_Mutation	454						
MAB21L3	126868	broad.mit.edu	GRCh37	1	116666899	116666899	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369500.3:c.402C>T	p.Asp134=	p.D134=	ENST00000369500	NM_152367.2	134	gaC/gaT	0			1			T	D	uc001egc.1	protein_coding	YES	CCDS886.1			402/1089										0	c.(400-402)GAC>GAT			hmmpanther:PTHR10656,hmmpanther:PTHR10656:SF30,Pfam_domain:PF03281	hypothetical protein LOC126868				ENSP00000358512		7-Apr	4.94E-05		8.64E-05	0.000231		4.50E-05			rs781180790,COSM2149571	7-Apr	.		ENST00000369500	Transcript						ENSG00000173212	g.chr1:116666899C>T	26787			LOW								--	--	1																																			0,1	1			p.D134D	NM_152367	NP_689580			0,1	MB213_HUMAN	MAB21L3	HGNC	Q8N8X9	MB213_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)			4	667	+	Lung SC(450;0.184)	all_cancers(81;0.00142)|all_lung(203;0.000139)|all_epithelial(167;0.000401)|Lung NSC(69;0.000705)	UPI000013EFA5	134					SNV	MAB21L3,synonymous_variant,p.=,ENST00000369500,NM_152367.2;MAB21L3,non_coding_transcript_exon_variant,,ENST00000464946,;	uc001egc.1	c.402C>T	667/3229	1	1			c.402C>T						1	SNP	c.(400-402)GAC>GAT	2	2				0	Broad	hypothetical protein LOC126868			116666899		0.552	ENSG00000173212	1966	g.chr1:116666899C>T										95.824554	KEEP	21	20	-1	31	35	21	20	-1	97.623098	31	35	0.354167	1	0	0	0	0	0	0	1	0	--	--		0	T				18	GBM-06-0137-TP	p.D134D	C	TGAACATCGACGGAGACATTG	NM_152367	NP_689580	116666899	Q8N8X9	MB213_HUMAN	0		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	4	667	+	T	T	Lung SC(450;0.184)	all_cancers(81;0.00142)|all_lung(203;0.000139)|all_epithelial(167;0.000401)|Lung NSC(69;0.000705)	Silent	134						
MAB21L3	126868	broad.mit.edu	GRCh37	1	116675825	116675825	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0154-01	TCGA-06-0154-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369500.3:c.928C>T	p.Arg310Cys	p.R310C	ENST00000369500	NM_152367.2	310	Cgc/Tgc	0			1			T	R/C	uc001egc.1	protein_coding	YES	CCDS886.1			928/1089										0	c.(928-930)CGC>TGC			hmmpanther:PTHR10656,hmmpanther:PTHR10656:SF30,Pfam_domain:PF03281	hypothetical protein LOC126868				ENSP00000358512		7-Jul	2.47E-05	0.000192	8.65E-05						rs761323415,COSM2149935	7-Jul	.		ENST00000369500	Transcript						ENSG00000173212	g.chr1:116675825C>T	26787			MODERATE		2.555	medium	getma.org/?cm=msa&ty=f&p=MB213_HUMAN&rb=57&re=355&var=R310C	NA	getma.org/?cm=var&var=hg19,1,116675825,C,T&fts=all	R310C	--	--	1																																			0,1	1		possibly_damaging(0.615)	p.R310C	NM_152367	NP_689580		deleterious(0.02)	0,1	MB213_HUMAN	MAB21L3	HGNC	Q8N8X9	MB213_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)			7	1193	+	Lung SC(450;0.184)	all_cancers(81;0.00142)|all_lung(203;0.000139)|all_epithelial(167;0.000401)|Lung NSC(69;0.000705)	UPI000013EFA5	310					SNV	MAB21L3,missense_variant,p.Arg310Cys,ENST00000369500,NM_152367.2;MAB21L3,downstream_gene_variant,,ENST00000464946,;	uc001egc.1	c.928C>T	1193/3229	1	1			c.928C>T						1	SNP	c.(928-930)CGC>TGC	3	3				0	Broad	hypothetical protein LOC126868			116675825		0.507	ENSG00000173212	1966	g.chr1:116675825C>T										60.50824	KEEP	14	11	-1	29	30	14	11	-1	63.738911	29	30	0.2875	1	0	0	0	0	1	0	0	0	--	--		0	T				26	GBM-06-0154-TP	p.R310C	C	AGCATTTCTGCGCCTGGTGAG	NM_152367	NP_689580	116675825	Q8N8X9	MB213_HUMAN	0		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	7	1193	+	T	T	Lung SC(450;0.184)	all_cancers(81;0.00142)|all_lung(203;0.000139)|all_epithelial(167;0.000401)|Lung NSC(69;0.000705)	Missense_Mutation	310						
MAB21L3	0	broad.mit.edu	GRCh37	1	116670945	116670945	+	synonymous_variant	Silent	SNP	G	G	A	rs148441950		TCGA-19-2623-01	TCGA-19-2623-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369500.3:c.840G>A	p.Thr280=	p.T280=	ENST00000369500	NM_152367.2	280	acG/acA	0	A:0		1			A	T	uc001egc.1	protein_coding	YES	CCDS886.1			840/1089										0	c.(838-840)ACG>ACA			hmmpanther:PTHR10656,hmmpanther:PTHR10656:SF30,Pfam_domain:PF03281	hypothetical protein LOC126868			A:0.0001	ENSP00000358512		7-Jun	8.24E-06					1.68E-05			rs148441950,COSM3399575	7-Jun	.		ENST00000369500	Transcript						ENSG00000173212	g.chr1:116670945G>A	26787			LOW								--	--	1																																			0,1	1			p.T280T	NM_152367	NP_689580			0,1	MB213_HUMAN	MAB21L3	HGNC	Q8N8X9	MB213_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)			6	1105	+	Lung SC(450;0.184)	all_cancers(81;0.00142)|all_lung(203;0.000139)|all_epithelial(167;0.000401)|Lung NSC(69;0.000705)	UPI000013EFA5	280					SNV	MAB21L3,synonymous_variant,p.=,ENST00000369500,NM_152367.2;MAB21L3,downstream_gene_variant,,ENST00000464946,;	uc001egc.1	c.840G>A	1105/3229	1	1			c.840G>A						1	SNP	c.(838-840)ACG>ACA	57	57				0	Broad	hypothetical protein LOC126868			116670945		0.582	ENSG00000173212	1966	g.chr1:116670945G>A										46.962838	KEEP	10	7	-1	16	10	10	7	-1	47.224609	16	10	0.414634	1	0	0	0	0	0	0	1	0	--	--		0	A				163	GBM-19-2623-TP	p.T280T	G	CGGTTATCACGTCCCACCATC	NM_152367	NP_689580	116670945	Q8N8X9	MB213_HUMAN	0		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	6	1105	+	A	A	Lung SC(450;0.184)	all_cancers(81;0.00142)|all_lung(203;0.000139)|all_epithelial(167;0.000401)|Lung NSC(69;0.000705)	Silent	280						
MACC1	346389	broad.mit.edu	GRCh37	7	20198221	20198221	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01	TCGA-06-0743-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400331.5:c.1763C>T	p.Ala588Val	p.A588V	ENST00000400331	NM_182762.3	588	gCt/gTt	0			1			A	A/V	uc003sus.3	protein_coding		CCDS5369.1			1763/2559									ovary(2)|skin(1)	3	c.(1762-1764)GCT>GTT			hmmpanther:PTHR15603,hmmpanther:PTHR15603:SF1,Pfam_domain:PF07653	putative binding protein 7a5				ENSP00000328410		5-Mar									COSM3411895	5-Mar	.		ENST00000332878	Transcript			positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	ENSG00000183742	g.chr7:20198221G>A	30215			MODERATE		2.08	medium	getma.org/?cm=msa&ty=f&p=MACC1_HUMAN&rb=553&re=617&var=A588V	NA	getma.org/?cm=var&var=hg19,7,20198221,G,A&fts=all	A588V	--	--	1																																		MACC1_uc010kug.2_Missense_Mutation_p.A588V	1			probably_damaging(0.968)	p.A588V	NM_182762	NP_877439		tolerated(0.45)	1	MACC1_HUMAN	MACC1	HGNC	Q6ZN28	MACC1_HUMAN					5	2072	-			UPI00001B2F47	588			SH3.		SNV	MACC1,missense_variant,p.Ala588Val,ENST00000400331,NM_182762.3;MACC1,missense_variant,p.Ala588Val,ENST00000332878,;MACC1,missense_variant,p.Ala588Val,ENST00000589011,;	uc003sus.3	c.1763C>T	1877/2994	2	2			c.1763C>T						7	SNP	c.(1762-1764)GCT>GTT	36	36			ovary(2)|skin(1)	3	Broad	putative binding protein 7a5			20198221		0.418	ENSG00000183742	8974	g.chr7:20198221G>A	positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity							43.73299	KEEP	23	21	-1	157	188	23	21	-1	96.576812	157	188	0.11236	1	0	0	0	0	1	0	0	0	--	--		0	A			MACC1_uc010kug.2_Missense_Mutation_p.A588V	65	GBM-06-0743-TP	p.A588V	G	CTGACCAATAGCTTTTACCTT	NM_182762	NP_877439	20198221	Q6ZN28	MACC1_HUMAN	0			5	2072	-	A	A			Missense_Mutation	588			SH3.			
MACC1	346389	broad.mit.edu	GRCh37	7	20199376	20199376	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-5418-01	TCGA-06-5418-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400331.5:c.608G>C	p.Gly203Ala	p.G203A	ENST00000400331	NM_182762.3	203	gGa/gCa	0			1			G	G/A	uc003sus.3	protein_coding		CCDS5369.1			608/2559									ovary(2)|skin(1)	3	c.(607-609)GGA>GCA			hmmpanther:PTHR15603,hmmpanther:PTHR15603:SF1	putative binding protein 7a5				ENSP00000328410		5-Mar									COSM3411896	5-Mar	.		ENST00000332878	Transcript			positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	ENSG00000183742	g.chr7:20199376C>G	30215			MODERATE		2.475	medium	getma.org/?cm=msa&ty=f&p=MACC1_HUMAN&rb=201&re=400&var=G203A	NA	getma.org/?cm=var&var=hg19,7,20199376,C,G&fts=all	G203A	--	--	1																																		MACC1_uc010kug.2_Missense_Mutation_p.G203A	1			probably_damaging(0.999)	p.G203A	NM_182762	NP_877439		deleterious(0)	1	MACC1_HUMAN	MACC1	HGNC	Q6ZN28	MACC1_HUMAN					5	917	-			UPI00001B2F47	203					SNV	MACC1,missense_variant,p.Gly203Ala,ENST00000400331,NM_182762.3;MACC1,missense_variant,p.Gly203Ala,ENST00000332878,;MACC1,missense_variant,p.Gly203Ala,ENST00000589011,;MACC1,downstream_gene_variant,,ENST00000471019,;	uc003sus.3	c.608G>C	722/2994	3	3			c.608G>C						7	SNP	c.(607-609)GGA>GCA	2	2			ovary(2)|skin(1)	3	Broad	putative binding protein 7a5			20199376		0.473	ENSG00000183742	8974	g.chr7:20199376C>G	positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity							-30.90745	KEEP	0	3	-1	83	72	0	3	-1	6.973699	83	72	0.020408	1	0	0	0	0	1	0	0	0	--	--		0	G			MACC1_uc010kug.2_Missense_Mutation_p.G203A	100	GBM-06-5418-TP	p.G203A	C	CTGGGCCCATCCAGGGCTCTG	NM_182762	NP_877439	20199376	Q6ZN28	MACC1_HUMAN	0			5	917	-	G	G			Missense_Mutation	203						
MACC1	0	broad.mit.edu	GRCh37	7	20199676	20199676	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-4719-01	TCGA-32-4719-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332878.4:c.308T>C	p.Phe103Ser	p.F103S	ENST00000332878		103	tTc/tCc	0			1			G	F/S	uc003sus.3	protein_coding		CCDS5369.1			308/2559									ovary(2)|skin(1)	3	c.(307-309)TTC>TCC			hmmpanther:PTHR15603,hmmpanther:PTHR15603:SF1	putative binding protein 7a5				ENSP00000328410		5-Mar									COSM2157411	5-Mar	.		ENST00000332878	Transcript			positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	ENSG00000183742	g.chr7:20199676A>G	30215			MODERATE		1.645	low	getma.org/?cm=msa&ty=f&p=MACC1_HUMAN&rb=1&re=200&var=F103S	NA	getma.org/?cm=var&var=hg19,7,20199676,A,G&fts=all	F103S	--	--	1																																		MACC1_uc010kug.2_Missense_Mutation_p.F103S	1			probably_damaging(0.997)	p.F103S	NM_182762	NP_877439		tolerated(0.28)	1	MACC1_HUMAN	MACC1	HGNC	Q6ZN28	MACC1_HUMAN					5	617	-			UPI00001B2F47	103					SNV	MACC1,missense_variant,p.Phe103Ser,ENST00000400331,NM_182762.3;MACC1,missense_variant,p.Phe103Ser,ENST00000332878,;MACC1,missense_variant,p.Phe103Ser,ENST00000589011,;MACC1,downstream_gene_variant,,ENST00000471019,;	uc003sus.3	c.308T>C	422/2994	4	4			c.308T>C						7	SNP	c.(307-309)TTC>TCC	29	29			ovary(2)|skin(1)	3	Broad	putative binding protein 7a5			20199676		0.348	ENSG00000183742	8974	g.chr7:20199676A>G	positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity							90.9407	KEEP	11	15	-1	21	15	11	15	-1	91.292327	21	15	0.419355	1	0	0	0	0	1	0	0	0	--	--		0	G			MACC1_uc010kug.2_Missense_Mutation_p.F103S	248	GBM-32-4719-TP	p.F103S	A	TTCTCTACAGAAAAGAAAAGG	NM_182762	NP_877439	20199676	Q6ZN28	MACC1_HUMAN	0			5	617	-	G	G			Missense_Mutation	103						
MACC1	346389		GRCh37	7	20180649	20180649	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000400331.5:c.2479G>T	p.Glu827Ter	p.E827*	ENST00000400331	NM_182762.3	827	Gaa/Taa	0																																																																																																																																																																																																																																												
MACF1	23499	broad.mit.edu	GRCh37	1	39549978	39549978	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000545844.1:c.88C>T	p.Arg30Trp	p.R30W	ENST00000545844		30	Cgg/Tgg	0		A:0	1	A:0		T	R/W	uc010ois.1	protein_coding					88/22167									ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	c.(88-90)CGG>TGG			Low_complexity_(Seg):seg	microfilament and actin filament cross-linker		A:0		ENSP00000362006	A:0	Jan-97	8.24E-06							6.06E-05	rs537793971,COSM3930768,COSM1748418	Jan-97	.		ENST00000372915	Transcript		A:0.0002	cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	ENSG00000127603	g.chr1:39549978C>T	13664			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=F8W8Q1_HUMAN&rb=1&re=200&var=R30W	NA	getma.org/?cm=var&var=hg19,1,39549978,C,T&fts=all	R30W	--	--	1																																		MACF1_uc010oir.1_Silent_p.S25S	0,1,1			unknown(0)	p.R30W	NM_012090	NP_036222	A:0.001		0,1,1	MACF1_HUMAN	MACF1	HGNC	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN		3	293	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	UPI0001F78894	30			Actin-binding.		SNV	MACF1,missense_variant,p.Arg30Trp,ENST00000567887,;MACF1,missense_variant,p.Arg30Trp,ENST00000372915,;MACF1,missense_variant,p.Arg30Trp,ENST00000545844,;MACF1,missense_variant,p.Arg30Trp,ENST00000317713,;MACF1,missense_variant,p.Arg30Trp,ENST00000361689,NM_012090.5;MACF1,missense_variant,p.Arg30Trp,ENST00000539005,;MACF1,missense_variant,p.Arg30Trp,ENST00000602421,;MACF1,missense_variant,p.Arg30Trp,ENST00000484793,;	uc010ois.1	c.88C>T	175/23440	1	1			c.88C>T						1	SNP	c.(88-90)CGG>TGG	16	16			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Broad	microfilament and actin filament cross-linker			39549978		0.612	ENSG00000127603	8975	g.chr1:39549978C>T	cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding							55.86223	KEEP	11	11	-1	24	17	11	11	-1	56.728481	24	17	0.368421	1	0	0	0	0	1	0	0	0	--	--		0	T			MACF1_uc010oir.1_Silent_p.S25S	18	GBM-06-0137-TP	p.R30W	C	CAGGAGCGAGCGGTCGGGGAG	NM_012090	NP_036222	39549978	Q9UPN3	MACF1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		3	293	+	T	T	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	Missense_Mutation	30			Actin-binding.			
MACF1	0	broad.mit.edu	GRCh37	1	39907987	39907987	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-26-5132-01	TCGA-26-5132-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372915.3:c.18640C>T	p.Arg6214Ter	p.R6214*	ENST00000372915		6214	Cga/Tga	0			1			T	R/*	uc010oiu.1	protein_coding					18640/22167									ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	c.(14272-14274)CGA>TGA			Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF37,SMART_domains:SM00150,Superfamily_domains:SSF46966	microfilament and actin filament cross-linker				ENSP00000362006		75/97									COSM2156941,COSM3400760,COSM2156942	75/97	.		ENST00000372915	Transcript			cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	ENSG00000127603	g.chr1:39907987C>T	13664			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,39907987,C,T&fts=all	R4256*	--	--	1																																		MACF1_uc010ois.1_Nonsense_Mutation_p.R4256*	1,1,1				p.R4758*	NM_033044	NP_149033			1,1,1	MACF1_HUMAN	MACF1	HGNC	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN		41	14403	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	UPI0001F78894	6323			Spectrin 12.		SNV	MACF1,stop_gained,p.Arg6315Ter,ENST00000564288,;MACF1,stop_gained,p.Arg6352Ter,ENST00000567887,;MACF1,stop_gained,p.Arg6214Ter,ENST00000372915,;MACF1,stop_gained,p.Arg4758Ter,ENST00000289893,;MACF1,stop_gained,p.Arg4256Ter,ENST00000545844,;MACF1,stop_gained,p.Arg4256Ter,ENST00000317713,;MACF1,stop_gained,p.Arg4256Ter,ENST00000361689,NM_012090.5;MACF1,stop_gained,p.Arg4126Ter,ENST00000539005,;MACF1,stop_gained,p.Arg3260Ter,ENST00000372925,;MACF1,downstream_gene_variant,,ENST00000469490,;	uc010oiu.1	c.14272C>T	18727/23440	5	2			c.14272C>T						1	SNP	c.(14272-14274)CGA>TGA	46	46			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Broad	microfilament and actin filament cross-linker			39907987		0.443	ENSG00000127603	8975	g.chr1:39907987C>T	cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding							134.876832	KEEP	20	27	-1	31	40	20	27	-1	136.002189	31	40	0.392857	1	0	0	0	0	0	1	0	0	--	--		0	T			MACF1_uc010ois.1_Nonsense_Mutation_p.R4256*	181	GBM-26-5132-TP	p.R4758*	C	AATTGCCCACCGACAGGTAAG	NM_033044	NP_149033	39907987	Q9UPN3	MACF1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		41	14403	+	T	T	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	Nonsense_Mutation	6323			Spectrin 12.			
MACF1	0	broad.mit.edu	GRCh37	1	39753206	39753206	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-27-2521-01	TCGA-27-2521-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372915.3:c.1772A>T	p.Glu591Val	p.E591V	ENST00000372915		591	gAa/gTa	0			1			T	E/V	uc010ois.1	protein_coding					1772/22167									ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	c.(1771-1773)GAA>GTA			Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF37,SMART_domains:SM00150,Superfamily_domains:SSF46966	microfilament and actin filament cross-linker				ENSP00000362006		14/97									COSM3400752,COSM3400751	14/97	.		ENST00000372915	Transcript			cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	ENSG00000127603	g.chr1:39753206A>T	13664			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=F8W8Q1_HUMAN&rb=401&re=600&var=E591V	getma.org/pdb.php?prot=F8W8Q1_HUMAN&from=401&to=600&var=E591V	getma.org/?cm=var&var=hg19,1,39753206,A,T&fts=all	E591V	--	--	1																																		MACF1_uc001cda.1_Missense_Mutation_p.E499V	1,1			probably_damaging(0.987)	p.E591V	NM_012090	NP_036222			1,1	MACF1_HUMAN	MACF1	HGNC	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN		16	1977	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	UPI0001F78894	591					SNV	MACF1,missense_variant,p.Glu586Val,ENST00000564288,;MACF1,missense_variant,p.Glu623Val,ENST00000567887,;MACF1,missense_variant,p.Glu591Val,ENST00000372915,;MACF1,missense_variant,p.Glu591Val,ENST00000545844,;MACF1,missense_variant,p.Glu591Val,ENST00000317713,;MACF1,missense_variant,p.Glu591Val,ENST00000361689,NM_012090.5;MACF1,missense_variant,p.Glu591Val,ENST00000539005,;MACF1,missense_variant,p.Glu740Val,ENST00000530262,;MACF1,missense_variant,p.Glu549Val,ENST00000524432,;MACF1,downstream_gene_variant,,ENST00000536367,;MACF1,missense_variant,p.Glu751Val,ENST00000496804,;MACF1,non_coding_transcript_exon_variant,,ENST00000484393,;MACF1,downstream_gene_variant,,ENST00000472385,;MACF1,downstream_gene_variant,,ENST00000485063,;	uc010ois.1	c.1772A>T	1859/23440	2	2			c.1772A>T						1	SNP	c.(1771-1773)GAA>GTA	39	39			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Broad	microfilament and actin filament cross-linker			39753206		0.463	ENSG00000127603	8975	g.chr1:39753206A>T	cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding							113.28067	KEEP	24	38	-1	132	153	24	38	-1	139.232156	132	153	0.19322	1	0	0	0	0	1	0	0	0	--	--		0	T			MACF1_uc001cda.1_Missense_Mutation_p.E499V	200	GBM-27-2521-TP	p.E591V	A	TTTGTGTATGAACTACTGTCT	NM_012090	NP_036222	39753206	Q9UPN3	MACF1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		16	1977	+	T	T	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	Missense_Mutation	591						
MACF1	0	broad.mit.edu	GRCh37	1	39800817	39800817	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5207-01	TCGA-28-5207-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372915.3:c.8572C>T	p.Arg2858Cys	p.R2858C	ENST00000372915		2858	Cgt/Tgt	0			1			T	R/C	uc010oiu.1	protein_coding					8572/22167									ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	c.(3877-3879)CGT>TGT			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF37	microfilament and actin filament cross-linker				ENSP00000362006		36/97	8.24E-06							6.07E-05	rs764967333,COSM3400758	36/97	.		ENST00000372915	Transcript			cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	ENSG00000127603	g.chr1:39800817C>T	13664			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=H3BPE1_HUMAN&rb=2801&re=3000&var=R2853C	NA	getma.org/?cm=var&var=hg19,1,39800817,C,T&fts=all	R2853C	--	--	1																																		MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	0,1			possibly_damaging(0.564)	p.R1293C	NM_033044	NP_149033			0,1	MACF1_HUMAN	MACF1	HGNC	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN		1	4008	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	UPI0001F78894	2858					SNV	MACF1,missense_variant,p.Arg2853Cys,ENST00000564288,;MACF1,missense_variant,p.Arg2890Cys,ENST00000567887,;MACF1,missense_variant,p.Arg2858Cys,ENST00000372915,;MACF1,missense_variant,p.Arg1293Cys,ENST00000289893,;MACF1,intron_variant,,ENST00000545844,;MACF1,intron_variant,,ENST00000317713,;MACF1,intron_variant,,ENST00000361689,NM_012090.5;MACF1,intron_variant,,ENST00000539005,;MACF1,intron_variant,,ENST00000372925,;MACF1,intron_variant,,ENST00000530262,;MACF1,intron_variant,,ENST00000476350,;MACF1,downstream_gene_variant,,ENST00000528611,;	uc010oiu.1	c.3877C>T	8659/23440	2	2			c.3877C>T						1	SNP	c.(3877-3879)CGT>TGT	29	29			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Broad	microfilament and actin filament cross-linker			39800817		0.398	ENSG00000127603	8975	g.chr1:39800817C>T	cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding							21.343742	KEEP	13	4	-1	59	44	13	4	-1	35.908777	59	44	0.133929	1	0	0	0	0	1	0	0	0	--	--		0	T			MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	216	GBM-28-5207-TP	p.R1293C	C	CAAGGATCAACGTAAGCCAAG	NM_033044	NP_149033	39800817	Q9UPN3	MACF1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	4008	+	T	T	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	Missense_Mutation	2858						
MACF1	0	broad.mit.edu	GRCh37	1	39799225	39799225	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5213-01	TCGA-28-5213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372915.3:c.6980C>T	p.Ala2327Val	p.A2327V	ENST00000372915		2327	gCc/gTc	0			1			T	A/V	uc010oiu.1	protein_coding					6980/22167									ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	c.(2284-2286)GCC>GTC			Gene3D:3.90.1290.10,Pfam_domain:PF00681,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF37,SMART_domains:SM00250,Superfamily_domains:SSF75399	microfilament and actin filament cross-linker				ENSP00000362006		36/97									COSM3400757	36/97	.		ENST00000372915	Transcript			cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	ENSG00000127603	g.chr1:39799225C>T	13664			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=H3BPE1_HUMAN&rb=2201&re=2400&var=A2322V	getma.org/pdb.php?prot=H3BPE1_HUMAN&from=2201&to=2400&var=A2322V	getma.org/?cm=var&var=hg19,1,39799225,C,T&fts=all	A2322V	--	--	1																																		MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	1			probably_damaging(0.993)	p.A762V	NM_033044	NP_149033			1	MACF1_HUMAN	MACF1	HGNC	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN		1	2416	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	UPI0001F78894	2327			Plectin 6.		SNV	MACF1,missense_variant,p.Ala2322Val,ENST00000564288,;MACF1,missense_variant,p.Ala2359Val,ENST00000567887,;MACF1,missense_variant,p.Ala2327Val,ENST00000372915,;MACF1,missense_variant,p.Ala762Val,ENST00000289893,;MACF1,intron_variant,,ENST00000545844,;MACF1,intron_variant,,ENST00000317713,;MACF1,intron_variant,,ENST00000361689,NM_012090.5;MACF1,intron_variant,,ENST00000539005,;MACF1,intron_variant,,ENST00000372925,;MACF1,intron_variant,,ENST00000530262,;MACF1,intron_variant,,ENST00000476350,;MACF1,downstream_gene_variant,,ENST00000528611,;	uc010oiu.1	c.2285C>T	7067/23440	1	1			c.2285C>T						1	SNP	c.(2284-2286)GCC>GTC	4	4			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Broad	microfilament and actin filament cross-linker			39799225		0.423	ENSG00000127603	8975	g.chr1:39799225C>T	cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding							-38.066227	KEEP	3	1	-1	89	101	3	1	-1	6.633019	89	101	0.022727	1	0	0	0	0	1	0	0	0	--	--		0	T			MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	220	GBM-28-5213-TP	p.A762V	C	AGTCACACTGCCGTGAAGCTT	NM_033044	NP_149033	39799225	Q9UPN3	MACF1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	2416	+	T	T	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	Missense_Mutation	2327			Plectin 6.			
MACF1	0	broad.mit.edu	GRCh37	1	39833905	39833905	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5214-01	TCGA-28-5214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372915.3:c.12872C>T	p.Ala4291Val	p.A4291V	ENST00000372915		4291	gCg/gTg	0		T:0	1	T:0		T	A/V	uc010oiu.1	protein_coding					12872/22167									ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	c.(8176-8178)GCG>GTG			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF37,SMART_domains:SM00150	microfilament and actin filament cross-linker		T:0.001		ENSP00000362006	T:0	49/97	4.12E-05		8.65E-05	0.000116		3.00E-05		6.06E-05	rs573837366,COSM1627054,COSM3400759,COSM1627055	49/97	.		ENST00000372915	Transcript		T:0.0002	cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	ENSG00000127603	g.chr1:39833905C>T	13664			MODERATE		0.41	neutral	getma.org/?cm=msa&ty=f&p=F8W8Q1_HUMAN&rb=2201&re=2400&var=A2224V	NA	getma.org/?cm=var&var=hg19,1,39833905,C,T&fts=all	A2224V	--	--	1																																		MACF1_uc010ois.1_Missense_Mutation_p.A2224V|MACF1_uc001cda.1_Missense_Mutation_p.A2132V|MACF1_uc001cdc.1_Missense_Mutation_p.A1311V|MACF1_uc001cdb.1_Missense_Mutation_p.A1311V	0,1,1,1			benign(0.027)	p.A2726V	NM_033044	NP_149033	T:0		0,1,1,1	MACF1_HUMAN	MACF1	HGNC	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN		14	8308	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	UPI0001F78894	4291					SNV	MACF1,missense_variant,p.Ala4286Val,ENST00000564288,;MACF1,missense_variant,p.Ala4323Val,ENST00000567887,;MACF1,missense_variant,p.Ala4291Val,ENST00000372915,;MACF1,missense_variant,p.Ala2726Val,ENST00000289893,;MACF1,missense_variant,p.Ala2224Val,ENST00000545844,;MACF1,missense_variant,p.Ala2224Val,ENST00000317713,;MACF1,missense_variant,p.Ala2224Val,ENST00000361689,NM_012090.5;MACF1,missense_variant,p.Ala2224Val,ENST00000539005,;MACF1,missense_variant,p.Ala1358Val,ENST00000372925,;MACF1,non_coding_transcript_exon_variant,,ENST00000476350,;	uc010oiu.1	c.8177C>T	12959/23440	2	2			c.8177C>T						1	SNP	c.(8176-8178)GCG>GTG	21	21			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Broad	microfilament and actin filament cross-linker			39833905		0.453	ENSG00000127603	8975	g.chr1:39833905C>T	cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding							154.692615	KEEP	31	33	-1	56	64	31	33	-1	158.366144	56	64	0.343195	1	0	0	0	0	1	0	0	0	--	--		0	T			MACF1_uc010ois.1_Missense_Mutation_p.A2224V|MACF1_uc001cda.1_Missense_Mutation_p.A2132V|MACF1_uc001cdc.1_Missense_Mutation_p.A1311V|MACF1_uc001cdb.1_Missense_Mutation_p.A1311V	221	GBM-28-5214-TP	p.A2726V	C	TGTGGCTTTGCGCTGGACTTG	NM_033044	NP_149033	39833905	Q9UPN3	MACF1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		14	8308	+	T	T	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	Missense_Mutation	4291						
MACF1	0	broad.mit.edu	GRCh37	1	39750772	39750772	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-1982-01	TCGA-32-1982-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372915.3:c.1164C>T	p.Gly388=	p.G388=	ENST00000372915		388	ggC/ggT	0			1			T	G	uc010ois.1	protein_coding					1164/22167									ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	c.(1162-1164)GGC>GGT			Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF37,Superfamily_domains:SSF46966	microfilament and actin filament cross-linker				ENSP00000362006		Nov-97									COSM3400750,COSM3400749	Nov-97	.		ENST00000372915	Transcript			cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	ENSG00000127603	g.chr1:39750772C>T	13664			LOW								--	--	1																																		MACF1_uc001cda.1_Silent_p.G296G	1,1				p.G388G	NM_012090	NP_036222			1,1	MACF1_HUMAN	MACF1	HGNC	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN		13	1369	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	UPI0001F78894	388			LRR 3.		SNV	MACF1,synonymous_variant,p.=,ENST00000564288,;MACF1,synonymous_variant,p.=,ENST00000567887,;MACF1,synonymous_variant,p.=,ENST00000372915,;MACF1,synonymous_variant,p.=,ENST00000545844,;MACF1,synonymous_variant,p.=,ENST00000317713,;MACF1,synonymous_variant,p.=,ENST00000361689,NM_012090.5;MACF1,synonymous_variant,p.=,ENST00000539005,;MACF1,synonymous_variant,p.=,ENST00000530262,;MACF1,synonymous_variant,p.=,ENST00000524432,;MACF1,downstream_gene_variant,,ENST00000536367,;MACF1,synonymous_variant,p.=,ENST00000496804,;MACF1,non_coding_transcript_exon_variant,,ENST00000472385,;MACF1,upstream_gene_variant,,ENST00000484393,;MACF1,downstream_gene_variant,,ENST00000485063,;	uc010ois.1	c.1164C>T	1251/23440	2	2			c.1164C>T						1	SNP	c.(1162-1164)GGC>GGT	41	41			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Broad	microfilament and actin filament cross-linker			39750772		0.433	ENSG00000127603	8975	g.chr1:39750772C>T	cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding							-32.233507	KEEP	2	4	-1	76	94	2	4	-1	6.547701	76	94	0.025641	1	0	0	0	0	0	0	1	0	--	--		0	T			MACF1_uc001cda.1_Silent_p.G296G	232	GBM-32-1982-TP	p.G388G	C	TTGAATTTGGCCGAATTAAAC	NM_012090	NP_036222	39750772	Q9UPN3	MACF1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		13	1369	+	T	T	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	Silent	388			LRR 3.			
MACF1	23499		GRCh37	1	39924911	39924911	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000545844.1:c.15173G>A	p.Arg5058Gln	p.R5058Q	ENST00000545844		5058	cGg/cAg	0																																																																																																																																																																																																																																												
MACF1	23499		GRCh37	1	39913453	39913453	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000545844.1:c.13674G>A	p.Gln4558=	p.Q4558=	ENST00000545844		4558	caG/caA	0																																																																																																																																																																																																																																												
MACF1	23499		GRCh37	1	39763324	39763324	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000545844.1:c.2403C>G	p.Phe801Leu	p.F801L	ENST00000545844		801	ttC/ttG	0																																																																																																																																																																																																																																												
MACROD2	0	broad.mit.edu	GRCh37	20	15210608	15210608	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-41-2571-01	TCGA-41-2571-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217246.4:c.441A>T	p.Pro147=	p.P147=	ENST00000217246	NM_080676.5	147	ccA/ccT	0			1			T	P	uc002wou.2	protein_coding	YES	CCDS13120.2			441/1278										0	c.(439-441)CCA>CCT			PROSITE_profiles:PS51154,hmmpanther:PTHR11106,hmmpanther:PTHR11106:SF54,Pfam_domain:PF01661,Gene3D:3.40.220.10,SMART_domains:SM00506,Superfamily_domains:SSF52949	MACRO domain containing 2 isoform 1				ENSP00000217246		17-Jun									COSM3404941	17-Jun	.		ENST00000217246	Transcript						ENSG00000172264	g.chr20:15210608A>T	16126			LOW								--	--	1																																		MACROD2_uc002wot.2_Silent_p.P147P|MACROD2_uc002woz.2_5'UTR	1	1			p.P147P	NM_080676	NP_542407			1	MACD2_HUMAN	MACROD2	HGNC	A1Z1Q3	MACD2_HUMAN					6	705	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	UPI00005B2E12	147			Macro.		SNV	MACROD2,synonymous_variant,p.=,ENST00000217246,NM_080676.5;MACROD2,synonymous_variant,p.=,ENST00000310348,;MACROD2,5_prime_UTR_variant,,ENST00000402914,NM_001033087.1;	uc002wou.2	c.441A>T	836/4994	2	2			c.441A>T						20	SNP	c.(439-441)CCA>CCT	22	22				0	Broad	MACRO domain containing 2 isoform 1			15210608		0.353	ENSG00000172264	8977	g.chr20:15210608A>T										-20.474879	KEEP	6	3	-1	80	71	6	3	-1	11.75988	80	71	0.041958	1	0	0	0	0	0	0	1	0	--	--		0	T			MACROD2_uc002wot.2_Silent_p.P147P|MACROD2_uc002woz.2_5'UTR	250	GBM-41-2571-TP	p.P147P	A	CTGTAGGGCCAATAGCCAGGG	NM_080676	NP_542407	15210608	A1Z1Q3	MACD2_HUMAN	0			6	705	+	T	T		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	Silent	147			Macro.			
MAD1L1	0	broad.mit.edu	GRCh37	7	2255803	2255803	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-16-1045-01	TCGA-16-1045-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265854.7:c.798C>T	p.Ser266=	p.S266=	ENST00000265854		266	agC/agT	0			1			A	S	uc003slh.1	protein_coding		CCDS43539.1			798/2157									lung(1)|central_nervous_system(1)	2	c.(796-798)AGC>AGT			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF05557,hmmpanther:PTHR23168,hmmpanther:PTHR23168:SF0	MAD1-like 1 protein				ENSP00000265854		18-Jul	2.48E-05					3.02E-05		6.23E-05	rs747926356,COSM3411931	18-Jul	.		ENST00000265854	Transcript			cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	ENSG00000002822	g.chr7:2255803G>A	6762			LOW								--	--	1																																		MAD1L1_uc003sle.1_5'Flank|MAD1L1_uc003slf.1_Silent_p.S266S|MAD1L1_uc003slg.1_Silent_p.S266S|MAD1L1_uc010ksh.1_Silent_p.S266S|MAD1L1_uc003sli.1_Silent_p.S174S|MAD1L1_uc010ksi.1_Silent_p.S219S|MAD1L1_uc010ksj.2_Silent_p.S266S	0,1				p.S266S	NM_001013836	NP_001013858			0,1	MD1L1_HUMAN	MAD1L1	HGNC	Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	C9K086_HUMAN,C9JX80_HUMAN,C9JTA2_HUMAN,C9JKI7_HUMAN,C9JJ38_HUMAN,C9J9H5_HUMAN		8	1064	-		Ovarian(82;0.0272)	UPI0000072C4D	266			Potential.		SNV	MAD1L1,synonymous_variant,p.=,ENST00000406869,;MAD1L1,synonymous_variant,p.=,ENST00000399654,NM_001013837.1,NM_003550.2,NM_001013836.1;MAD1L1,synonymous_variant,p.=,ENST00000265854,;MAD1L1,synonymous_variant,p.=,ENST00000402746,;MAD1L1,synonymous_variant,p.=,ENST00000445959,;MAD1L1,synonymous_variant,p.=,ENST00000429625,;MAD1L1,downstream_gene_variant,,ENST00000455998,;MAD1L1,non_coding_transcript_exon_variant,,ENST00000469871,;MAD1L1,upstream_gene_variant,,ENST00000486340,;MAD1L1,upstream_gene_variant,,ENST00000459731,;	uc003slh.1	c.798C>T	882/2500	2	2			c.798C>T						7	SNP	c.(796-798)AGC>AGT	29	29			lung(1)|central_nervous_system(1)	2	Broad	MAD1-like 1 protein			2255803		0.637	ENSG00000002822	8978	g.chr7:2255803G>A	cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding							-7.495263	KEEP	4	5	-1	61	73	4	5	-1	15.041143	61	73	0.07438	1	0	0	0	0	0	0	1	0	--	--		0	A			MAD1L1_uc003sle.1_5'Flank|MAD1L1_uc003slf.1_Silent_p.S266S|MAD1L1_uc003slg.1_Silent_p.S266S|MAD1L1_uc010ksh.1_Silent_p.S266S|MAD1L1_uc003sli.1_Silent_p.S174S|MAD1L1_uc010ksi.1_Silent_p.S219S|MAD1L1_uc010ksj.2_Silent_p.S266S	157	GBM-16-1045-TP	p.S266S	G	GCAGGTGCGCGCTCTCCTCCC	NM_001013836	NP_001013858	2255803	Q9Y6D9	MD1L1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	8	1064	-	A	A		Ovarian(82;0.0272)	Silent	266			Potential.			
MAD1L1	0	broad.mit.edu	GRCh37	7	2269722	2269722	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01	TCGA-19-2623-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265854.7:c.47C>T	p.Ser16Phe	p.S16F	ENST00000265854		16	tCt/tTt	0			1			A	S/F	uc003slh.1	protein_coding		CCDS43539.1			47/2157									lung(1)|central_nervous_system(1)	2	c.(46-48)TCT>TTT			Pfam_domain:PF05557,hmmpanther:PTHR23168,hmmpanther:PTHR23168:SF0	MAD1-like 1 protein				ENSP00000265854		18-Feb									COSM3411933	18-Feb	.		ENST00000265854	Transcript			cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	ENSG00000002822	g.chr7:2269722G>A	6762			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=MD1L1_HUMAN&rb=2&re=716&var=S16F	NA	getma.org/?cm=var&var=hg19,7,2269722,G,A&fts=all	S16F	--	--	1																																		MAD1L1_uc003slf.1_Missense_Mutation_p.S16F|MAD1L1_uc003slg.1_Missense_Mutation_p.S16F|MAD1L1_uc010ksh.1_Missense_Mutation_p.S16F|MAD1L1_uc003sli.1_Intron|MAD1L1_uc010ksi.1_Missense_Mutation_p.S16F|MAD1L1_uc010ksj.2_Missense_Mutation_p.S16F	1			probably_damaging(0.991)	p.S16F	NM_001013836	NP_001013858		deleterious(0)	1	MD1L1_HUMAN	MAD1L1	HGNC	Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	C9K086_HUMAN,C9JX80_HUMAN,C9JTA2_HUMAN,C9JKI7_HUMAN,C9JJ38_HUMAN,C9J9H5_HUMAN		3	313	-		Ovarian(82;0.0272)	UPI0000072C4D	16					SNV	MAD1L1,missense_variant,p.Ser16Phe,ENST00000406869,;MAD1L1,missense_variant,p.Ser16Phe,ENST00000399654,NM_001013837.1,NM_003550.2,NM_001013836.1;MAD1L1,missense_variant,p.Ser16Phe,ENST00000265854,;MAD1L1,missense_variant,p.Ser16Phe,ENST00000455998,;MAD1L1,missense_variant,p.Ser16Phe,ENST00000429779,;MAD1L1,intron_variant,,ENST00000402746,;FTSJ2,downstream_gene_variant,,ENST00000440306,;FTSJ2,downstream_gene_variant,,ENST00000242257,NM_013393.1;MAD1L1,upstream_gene_variant,,ENST00000429625,;FTSJ2,downstream_gene_variant,,ENST00000407040,;FTSJ2,downstream_gene_variant,,ENST00000486040,;FTSJ2,downstream_gene_variant,,ENST00000467199,;	uc003slh.1	c.47C>T	131/2500	2	2			c.47C>T						7	SNP	c.(46-48)TCT>TTT	24	24			lung(1)|central_nervous_system(1)	2	Broad	MAD1-like 1 protein			2269722		0.537	ENSG00000002822	8978	g.chr7:2269722G>A	cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding							25.427201	KEEP	1	9	-1	19	13	1	9	-1	28.059898	19	13	0.238095	1	0	0	0	0	1	0	0	0	--	--		0	A			MAD1L1_uc003slf.1_Missense_Mutation_p.S16F|MAD1L1_uc003slg.1_Missense_Mutation_p.S16F|MAD1L1_uc010ksh.1_Missense_Mutation_p.S16F|MAD1L1_uc003sli.1_Intron|MAD1L1_uc010ksi.1_Missense_Mutation_p.S16F|MAD1L1_uc010ksj.2_Missense_Mutation_p.S16F	163	GBM-19-2623-TP	p.S16F	G	GTTGTTCAAAGATCTCAGGGT	NM_001013836	NP_001013858	2269722	Q9Y6D9	MD1L1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	3	313	-	A	A		Ovarian(82;0.0272)	Missense_Mutation	16						
MAD1L1	0	broad.mit.edu	GRCh37	7	2255875	2255875	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2494-01	TCGA-32-2494-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265854.7:c.726G>A	p.Val242=	p.V242=	ENST00000265854		242	gtG/gtA	0			1			T	V	uc003slh.1	protein_coding		CCDS43539.1			726/2157									lung(1)|central_nervous_system(1)	2	c.(724-726)GTG>GTA			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF05557,hmmpanther:PTHR23168,hmmpanther:PTHR23168:SF0	MAD1-like 1 protein				ENSP00000265854		18-Jul									COSM3411932	18-Jul	.		ENST00000265854	Transcript			cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	ENSG00000002822	g.chr7:2255875C>T	6762			LOW								--	--	1																																		MAD1L1_uc003sle.1_5'Flank|MAD1L1_uc003slf.1_Silent_p.V242V|MAD1L1_uc003slg.1_Silent_p.V242V|MAD1L1_uc010ksh.1_Silent_p.V242V|MAD1L1_uc003sli.1_Silent_p.V150V|MAD1L1_uc010ksi.1_Silent_p.V195V|MAD1L1_uc010ksj.2_Silent_p.V242V	1				p.V242V	NM_001013836	NP_001013858			1	MD1L1_HUMAN	MAD1L1	HGNC	Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	C9K086_HUMAN,C9JX80_HUMAN,C9JTA2_HUMAN,C9JKI7_HUMAN,C9JJ38_HUMAN,C9J9H5_HUMAN		8	992	-		Ovarian(82;0.0272)	UPI0000072C4D	242			Potential.		SNV	MAD1L1,synonymous_variant,p.=,ENST00000406869,;MAD1L1,synonymous_variant,p.=,ENST00000399654,NM_001013837.1,NM_003550.2,NM_001013836.1;MAD1L1,synonymous_variant,p.=,ENST00000265854,;MAD1L1,synonymous_variant,p.=,ENST00000402746,;MAD1L1,synonymous_variant,p.=,ENST00000445959,;MAD1L1,synonymous_variant,p.=,ENST00000429625,;MAD1L1,downstream_gene_variant,,ENST00000455998,;MAD1L1,non_coding_transcript_exon_variant,,ENST00000469871,;MAD1L1,upstream_gene_variant,,ENST00000486340,;MAD1L1,upstream_gene_variant,,ENST00000459731,;	uc003slh.1	c.726G>A	810/2500	2	2			c.726G>A						7	SNP	c.(724-726)GTG>GTA	32	32			lung(1)|central_nervous_system(1)	2	Broad	MAD1-like 1 protein			2255875		0.493	ENSG00000002822	8978	g.chr7:2255875C>T	cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding							49.458125	KEEP	14	21	-1	41	49	14	21	-1	53.831097	41	49	0.253165	1	0	0	0	0	0	0	1	0	--	--		0	T			MAD1L1_uc003sle.1_5'Flank|MAD1L1_uc003slf.1_Silent_p.V242V|MAD1L1_uc003slg.1_Silent_p.V242V|MAD1L1_uc010ksh.1_Silent_p.V242V|MAD1L1_uc003sli.1_Silent_p.V150V|MAD1L1_uc010ksi.1_Silent_p.V195V|MAD1L1_uc010ksj.2_Silent_p.V242V	236	GBM-32-2494-TP	p.V242V	C	TCATGTTCTTCACAATCGCTG	NM_001013836	NP_001013858	2255875	Q9Y6D9	MD1L1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	8	992	-	T	T		Ovarian(82;0.0272)	Silent	242			Potential.			
MAD1L1	8379		GRCh37	7	1855850	1855850	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000406869.1:c.2013G>A	p.Ser671=	p.S671=	ENST00000406869		671	tcG/tcA	0																																																																																																																																																																																																																																												
MADCAM1	0	broad.mit.edu	GRCh37	19	498515	498515	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-14-2554-01	TCGA-14-2554-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000215637.3:c.357C>A	p.Thr119=	p.T119=	ENST00000215637	NM_130760.2	119	acC/acA	0			1			A	T	uc002los.2	protein_coding	YES	CCDS12028.1			357/1149										0	c.(355-357)ACC>ACA			Gene3D:2.60.40.10,Pfam_domain:PF09085,hmmpanther:PTHR14162,hmmpanther:PTHR14162:SF0,Superfamily_domains:SSF48726	mucosal vascular addressin cell adhesion				ENSP00000215637		5-Mar									COSM3404449	5-Mar	.		ENST00000215637	Transcript			cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane		ENSG00000099866	g.chr19:498515C>A	6765			LOW								--	--	1																																		MADCAM1_uc002lot.2_Silent_p.T119T|MADCAM1_uc010drq.2_Silent_p.T24T	1	1			p.T119T	NM_130760	NP_570116			1	MADCA_HUMAN	MADCAM1	HGNC	Q13477	MADCA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	B9EGE2_HUMAN		3	367	+		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	UPI000013C68F	119			Extracellular (Potential).|Ig-like 2.		SNV	MADCAM1,synonymous_variant,p.=,ENST00000215637,NM_130760.2;MADCAM1,synonymous_variant,p.=,ENST00000346144,NM_130762.2;MADCAM1,synonymous_variant,p.=,ENST00000382683,;MADCAM1,intron_variant,,ENST00000587541,;AC005775.2,intron_variant,,ENST00000592413,;	uc002los.2	c.357C>A	403/1577	1	1			c.357C>A						19	SNP	c.(355-357)ACC>ACA	55	55				0	Broad	mucosal vascular addressin cell adhesion			498515		0.697	ENSG00000099866	8982	g.chr19:498515C>A	cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane								21.453582	KEEP	9	4	0.307692308	21	27	9	4	0.307692308	24.618427	21	27	0.214286	1	0	0	0	0	0	0	1	0	--	--		0	A			MADCAM1_uc002lot.2_Silent_p.T119T|MADCAM1_uc010drq.2_Silent_p.T24T	150	GBM-14-2554-TP	p.T119T	C	ACCAGCTGACCGTCTCCCCAG	NM_130760	NP_570116	498515	Q13477	MADCA_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	367	+	A	A		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	Silent	119			Extracellular (Potential).|Ig-like 2.			
MADD	8567	broad.mit.edu	GRCh37	11	47345856	47345856	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311027.5:c.4583G>A	p.Arg1528His	p.R1528H	ENST00000311027	NM_003682.3	1528	cGc/cAc	0		A:0.0008	1	A:0		A	R/H	uc001ner.1	protein_coding	YES	CCDS7930.1			4583/4944									ovary(5)|skin(4)|central_nervous_system(2)	11	c.(4582-4584)CGC>CAC			hmmpanther:PTHR13008:SF6,hmmpanther:PTHR13008	MAP-kinase activating death domain-containing		A:0		ENSP00000310933	A:0	32/36	5.77E-05	9.70E-05				9.05E-05			rs568759986,COSM2150470	32/36	.		ENST00000311027	Transcript		A:0.0002	activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	ENSG00000110514	g.chr11:47345856G>A	6766			MODERATE		1.545	low	getma.org/?cm=msa&ty=f&p=MADD_HUMAN&rb=1277&re=1629&var=R1528H	NA	getma.org/?cm=var&var=hg19,11,47345856,G,A&fts=all	R1528H	--	--	1																																		MADD_uc001neq.2_Missense_Mutation_p.R1469H|MADD_uc001nev.1_Missense_Mutation_p.R1426H|MADD_uc001nes.1_Missense_Mutation_p.R1446H|MADD_uc001net.1_Missense_Mutation_p.R1489H|MADD_uc009yln.1_Missense_Mutation_p.R1422H|MADD_uc001neu.1_Missense_Mutation_p.R1426H|MADD_uc001nex.2_Missense_Mutation_p.R1528H|MADD_uc001nez.2_Missense_Mutation_p.R1425H|MADD_uc001new.2_Missense_Mutation_p.R1468H|MADD_uc009ylo.2_Missense_Mutation_p.R442H	0,1	1		probably_damaging(0.999)	p.R1528H	NM_003682	NP_003673	A:0	deleterious(0)	0,1	MADD_HUMAN	MADD	HGNC	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	Q7KYV8_HUMAN,C9K0L0_HUMAN,C9JM97_HUMAN,C9JLZ9_HUMAN,C9J6B0_HUMAN		32	4774	+			UPI000013E874	1528					SNV	MADD,missense_variant,p.Arg1469His,ENST00000342922,NM_130470.2;MADD,missense_variant,p.Arg1528His,ENST00000311027,NM_003682.3;MADD,missense_variant,p.Arg1528His,ENST00000395336,NM_130475.2;MADD,missense_variant,p.Arg1489His,ENST00000349238,NM_130473.2;MADD,missense_variant,p.Arg1468His,ENST00000402192,NM_001135943.1,NM_130476.2;MADD,missense_variant,p.Arg1446His,ENST00000407859,NM_130471.2;MADD,missense_variant,p.Arg1426His,ENST00000402799,NM_001135944.1,NM_130472.2;MADD,missense_variant,p.Arg1426His,ENST00000406482,NM_130474.2;MADD,missense_variant,p.Arg1422His,ENST00000395344,;MADD,missense_variant,p.Arg338His,ENST00000405573,;MADD,non_coding_transcript_exon_variant,,ENST00000494403,;MADD,non_coding_transcript_exon_variant,,ENST00000460452,;MADD,upstream_gene_variant,,ENST00000469699,;	uc001ner.1	c.4583G>A	4748/5990	2	2			c.4583G>A						11	SNP	c.(4582-4584)CGC>CAC	43	43			ovary(5)|skin(4)|central_nervous_system(2)	11	Broad	MAP-kinase activating death domain-containing			47345856		0.592	ENSG00000110514	8983	g.chr11:47345856G>A	activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			5			5	53.282292	KEEP	10	15	-1	25	27	10	15	-1	54.757203	25	27	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	A			MADD_uc001neq.2_Missense_Mutation_p.R1469H|MADD_uc001nev.1_Missense_Mutation_p.R1426H|MADD_uc001nes.1_Missense_Mutation_p.R1446H|MADD_uc001net.1_Missense_Mutation_p.R1489H|MADD_uc009yln.1_Missense_Mutation_p.R1422H|MADD_uc001neu.1_Missense_Mutation_p.R1426H|MADD_uc001nex.2_Missense_Mutation_p.R1528H|MADD_uc001nez.2_Missense_Mutation_p.R1425H|MADD_uc001new.2_Missense_Mutation_p.R1468H|MADD_uc009ylo.2_Missense_Mutation_p.R442H	39	GBM-06-0184-TP	p.R1528H	G	AGCATGGAGCGCGCTGCCGCC	NM_003682	NP_003673	47345856	Q8WXG6	MADD_HUMAN	0		Lung(87;0.182)	32	4774	+	A	A			Missense_Mutation	1528						
MADD	8567	broad.mit.edu	GRCh37	11	47307122	47307122	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2557-01	TCGA-06-2557-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311027.5:c.2532G>A	p.Gly844=	p.G844=	ENST00000311027	NM_003682.3	844	ggG/ggA	0			1			A	G	uc001ner.1	protein_coding	YES	CCDS7930.1			2532/4944									ovary(5)|skin(4)|central_nervous_system(2)	11	c.(2530-2532)GGG>GGA			hmmpanther:PTHR13008:SF6,hmmpanther:PTHR13008	MAP-kinase activating death domain-containing				ENSP00000310933		14/36									COSM2152539	14/36	.		ENST00000311027	Transcript			activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	ENSG00000110514	g.chr11:47307122G>A	6766			LOW								--	--	1																																		MADD_uc001neq.2_Silent_p.G844G|MADD_uc001nev.1_Silent_p.G801G|MADD_uc001nes.1_Silent_p.G801G|MADD_uc001net.1_Silent_p.G844G|MADD_uc009yln.1_Silent_p.G801G|MADD_uc001neu.1_Silent_p.G801G|MADD_uc001nex.2_Silent_p.G844G|MADD_uc001nez.2_Silent_p.G801G|MADD_uc001new.2_Silent_p.G844G	1	1			p.G844G	NM_003682	NP_003673			1	MADD_HUMAN	MADD	HGNC	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	Q7KYV8_HUMAN,C9K0L0_HUMAN,C9JM97_HUMAN,C9JLZ9_HUMAN,C9J6B0_HUMAN		14	2723	+			UPI000013E874	844					SNV	MADD,synonymous_variant,p.=,ENST00000342922,NM_130470.2;MADD,synonymous_variant,p.=,ENST00000311027,NM_003682.3;MADD,synonymous_variant,p.=,ENST00000395336,NM_130475.2;MADD,synonymous_variant,p.=,ENST00000349238,NM_130473.2;MADD,synonymous_variant,p.=,ENST00000402192,NM_001135943.1,NM_130476.2;MADD,synonymous_variant,p.=,ENST00000407859,NM_130471.2;MADD,synonymous_variant,p.=,ENST00000402799,NM_001135944.1,NM_130472.2;MADD,synonymous_variant,p.=,ENST00000406482,NM_130474.2;MADD,synonymous_variant,p.=,ENST00000395344,;MADD,non_coding_transcript_exon_variant,,ENST00000524686,;MADD,non_coding_transcript_exon_variant,,ENST00000524530,;MADD,downstream_gene_variant,,ENST00000489415,;	uc001ner.1	c.2532G>A	2697/5990	2	2			c.2532G>A						11	SNP	c.(2530-2532)GGG>GGA	47	47			ovary(5)|skin(4)|central_nervous_system(2)	11	Broad	MAP-kinase activating death domain-containing			47307122		0.532	ENSG00000110514	8983	g.chr11:47307122G>A	activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			5			5	162.477836	KEEP	40	29	-1	94	106	40	29	-1	174.775835	94	106	0.259574	1	0	0	0	0	0	0	1	0	--	--		0	A			MADD_uc001neq.2_Silent_p.G844G|MADD_uc001nev.1_Silent_p.G801G|MADD_uc001nes.1_Silent_p.G801G|MADD_uc001net.1_Silent_p.G844G|MADD_uc009yln.1_Silent_p.G801G|MADD_uc001neu.1_Silent_p.G801G|MADD_uc001nex.2_Silent_p.G844G|MADD_uc001nez.2_Silent_p.G801G|MADD_uc001new.2_Silent_p.G844G	81	GBM-06-2557-TP	p.G844G	G	AGGGCTTCGGGGGCATCATGT	NM_003682	NP_003673	47307122	Q8WXG6	MADD_HUMAN	0		Lung(87;0.182)	14	2723	+	A	A			Silent	844						
MAFK	7975		GRCh37	7	1579852	1579852	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000343242.4:c.312G>A	p.Leu104=	p.L104=	ENST00000343242	NM_002360.3	104	ctG/ctA	0																																																																																																																																																																																																																																												
MAFK	7975		GRCh37	7	1579867	1579867	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000343242.4:c.327C>G	p.Ser109=	p.S109=	ENST00000343242	NM_002360.3	109	tcC/tcG	0																																																																																																																																																																																																																																												
MAG	4099	broad.mit.edu	GRCh37	19	35793483	35793483	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs144554089		TCGA-06-0174-01	TCGA-06-0174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392213.3:c.1103C>T	p.Thr368Met	p.T368M	ENST00000392213	NM_002361.3	368	aCg/aTg	0	T:0		1			T	T/M	uc002nyy.1	protein_coding	YES	CCDS12455.1			1103/1881								p.T368M(1)	breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	c.(1102-1104)ACG>ATG			PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF23,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	myelin associated glycoprotein isoform a			T:0.0001	ENSP00000376048		11-Jul	0.000173		0.000518			0.00021		6.06E-05	rs144554089,COSM42834,COSM1559536	11-Jul	common_variant		ENST00000392213	Transcript			blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	ENSG00000105695	g.chr19:35793483C>T	6783			MODERATE		1.24	low	getma.org/?cm=msa&ty=f&p=MAG_HUMAN&rb=328&re=409&var=T368M	getma.org/pdb.php?prot=MAG_HUMAN&from=328&to=409&var=T368M	getma.org/?cm=var&var=hg19,19,35793483,C,T&fts=all	T368M	--	--	1																																		MAG_uc002nyx.1_Missense_Mutation_p.T368M|MAG_uc010eds.1_Missense_Mutation_p.T343M|MAG_uc002nyz.1_Missense_Mutation_p.T368M	0,1,1	1		possibly_damaging(0.462)	p.T368M	NM_002361	NP_002352		tolerated(0.07)	0,1,1	MAG_HUMAN	MAG	HGNC	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		M0R3I4_HUMAN,M0R3B9_HUMAN,M0QZU4_HUMAN		7	1252	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	UPI000012EB2F	368			Ig-like C2-type 3.|Extracellular (Potential).		SNV	MAG,missense_variant,p.Thr368Met,ENST00000361922,NM_080600.2;MAG,missense_variant,p.Thr368Met,ENST00000392213,NM_002361.3;MAG,missense_variant,p.Thr343Met,ENST00000537831,NM_001199216.1;MAG,downstream_gene_variant,,ENST00000595791,;MAG,downstream_gene_variant,,ENST00000600291,;MAG,downstream_gene_variant,,ENST00000597035,;	uc002nyy.1	c.1103C>T	1262/2390	2	2			c.1103C>T						19	SNP	c.(1102-1104)ACG>ATG	37	37		p.T368M(1)	breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	Broad	myelin associated glycoprotein isoform a			35793483		0.582	ENSG00000105695	8991	g.chr19:35793483C>T	blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding							94.379539	KEEP	20	21	-1	74	64	20	21	-1	104.263907	74	64	0.238994	1	0	0	0	0	1	0	0	0	--	--		0	T			MAG_uc002nyx.1_Missense_Mutation_p.T368M|MAG_uc010eds.1_Missense_Mutation_p.T343M|MAG_uc002nyz.1_Missense_Mutation_p.T368M	37	GBM-06-0174-TP	p.T368M	C	ATCCTGTCCACGGTCATCTAC	NM_002361	NP_002352	35793483	P20916	MAG_HUMAN	0	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		7	1252	+	T	T	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Missense_Mutation	368			Ig-like C2-type 3.|Extracellular (Potential).			
MAG	4099	broad.mit.edu	GRCh37	19	35804318	35804318	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2562-01	TCGA-06-2562-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392213.3:c.1842G>A	p.Thr614=	p.T614=	ENST00000392213	NM_002361.3	614	acG/acA	0			1			A	T	uc002nyy.1	protein_coding	YES	CCDS12455.1			1842/1881									breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	c.(1840-1842)ACG>ACA			hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF23	myelin associated glycoprotein isoform a				ENSP00000376048		11-Nov	1.65E-05							0.000122	rs768107293,COSM2152819	11-Nov	.		ENST00000392213	Transcript			blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	ENSG00000105695	g.chr19:35804318G>A	6783			LOW								--	--	1																																		MAG_uc002nyx.1_3'UTR|MAG_uc010eds.1_Silent_p.T589T|MAG_uc002nyz.1_Silent_p.T614T	0,1	1			p.T614T	NM_002361	NP_002352			0,1	MAG_HUMAN	MAG	HGNC	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		M0R3I4_HUMAN,M0R3B9_HUMAN,M0QZU4_HUMAN		11	1991	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	UPI000012EB2F	614	T -> S (in Ref. 2).		Cytoplasmic (Potential).		SNV	MAG,synonymous_variant,p.=,ENST00000392213,NM_002361.3;MAG,synonymous_variant,p.=,ENST00000537831,NM_001199216.1;MAG,3_prime_UTR_variant,,ENST00000361922,NM_080600.2;MAG,downstream_gene_variant,,ENST00000593348,;MAG,downstream_gene_variant,,ENST00000597162,;	uc002nyy.1	c.1842G>A	2001/2390	2	2			c.1842G>A						19	SNP	c.(1840-1842)ACG>ACA	27	27			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	Broad	myelin associated glycoprotein isoform a			35804318		0.657	ENSG00000105695	8991	g.chr19:35804318G>A	blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding							78.781115	KEEP	16	13	-1	30	35	16	13	-1	81.189097	30	35	0.317073	1	0	0	0	0	0	0	1	0	--	--		0	A			MAG_uc002nyx.1_3'UTR|MAG_uc010eds.1_Silent_p.T589T|MAG_uc002nyz.1_Silent_p.T614T	85	GBM-06-2562-TP	p.T614T	G	ACACGCTGACGGAGGAGCTAG	NM_002361	NP_002352	35804318	P20916	MAG_HUMAN	0	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		11	1991	+	A	A	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Silent	614	T -> S (in Ref. 2).		Cytoplasmic (Potential).			
MAG	4099	broad.mit.edu	GRCh37	19	35786610	35786610	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6390-01	TCGA-06-6390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392213.3:c.141G>A	p.Pro47=	p.P47=	ENST00000392213	NM_002361.3	47	ccG/ccA	0			1			A	P	uc002nyy.1	protein_coding	YES	CCDS12455.1			141/1881									breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	c.(139-141)CCG>CCA			hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF23,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	myelin associated glycoprotein isoform a				ENSP00000376048		11-Apr									COSM1641128,COSM1641127	11-Apr	.		ENST00000392213	Transcript			blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	ENSG00000105695	g.chr19:35786610G>A	6783			LOW								--	--	1																																		MAG_uc002nyx.1_Silent_p.P47P|MAG_uc010eds.1_Silent_p.P22P|MAG_uc002nyz.1_Silent_p.P47P	1,1	1			p.P47P	NM_002361	NP_002352			1,1	MAG_HUMAN	MAG	HGNC	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		M0R3I4_HUMAN,M0R3B9_HUMAN,M0QZU4_HUMAN		4	290	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	UPI000012EB2F	47			Ig-like V-type.|Extracellular (Potential).		SNV	MAG,synonymous_variant,p.=,ENST00000361922,NM_080600.2;MAG,synonymous_variant,p.=,ENST00000392213,NM_002361.3;MAG,synonymous_variant,p.=,ENST00000537831,NM_001199216.1;MAG,synonymous_variant,p.=,ENST00000595791,;MAG,synonymous_variant,p.=,ENST00000600291,;MAG,synonymous_variant,p.=,ENST00000597035,;	uc002nyy.1	c.141G>A	300/2390	2	2			c.141G>A						19	SNP	c.(139-141)CCG>CCA	44	44			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	Broad	myelin associated glycoprotein isoform a			35786610		0.642	ENSG00000105695	8991	g.chr19:35786610G>A	blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding							22.158785	KEEP	5	13	-1	68	40	5	13	-1	36.256672	68	40	0.136364	1	0	0	0	0	0	0	1	0	--	--		0	A			MAG_uc002nyx.1_Silent_p.P47P|MAG_uc010eds.1_Silent_p.P22P|MAG_uc002nyz.1_Silent_p.P47P	106	GBM-06-6390-TP	p.P47P	G	TTGACTTCCCGGATGAGCTGC	NM_002361	NP_002352	35786610	P20916	MAG_HUMAN	0	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		4	290	+	A	A	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Silent	47			Ig-like V-type.|Extracellular (Potential).			
MAG	0	broad.mit.edu	GRCh37	19	35801013	35801013	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01	TCGA-12-0618-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392213.3:c.1468G>A	p.Ala490Thr	p.A490T	ENST00000392213	NM_002361.3	490	Gcg/Acg	0			1			A	A/T	uc002nyy.1	protein_coding	YES	CCDS12455.1			1468/1881									breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	c.(1468-1470)GCG>ACG			hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF23,Superfamily_domains:SSF48726	myelin associated glycoprotein isoform a				ENSP00000376048		11-Aug	2.47E-05	0.000103				3.11E-05			rs202083530,COSM2153589,COSM2153588	11-Aug	.		ENST00000392213	Transcript			blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	ENSG00000105695	g.chr19:35801013G>A	6783			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=MAG_HUMAN&rb=413&re=508&var=A490T	NA	getma.org/?cm=var&var=hg19,19,35801013,G,A&fts=all	A490T	--	--	1																																		MAG_uc002nyx.1_Missense_Mutation_p.A490T|MAG_uc010eds.1_Missense_Mutation_p.A465T|MAG_uc002nyz.1_Missense_Mutation_p.A490T	0,1,1	1		benign(0.298)	p.A490T	NM_002361	NP_002352		tolerated(0.11)	0,1,1	MAG_HUMAN	MAG	HGNC	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		M0R3I4_HUMAN,M0R3B9_HUMAN,M0QZU4_HUMAN		8	1617	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	UPI000012EB2F	490			Ig-like C2-type 4.|Extracellular (Potential).		SNV	MAG,missense_variant,p.Ala490Thr,ENST00000361922,NM_080600.2;MAG,missense_variant,p.Ala490Thr,ENST00000392213,NM_002361.3;MAG,missense_variant,p.Ala465Thr,ENST00000537831,NM_001199216.1;MAG,non_coding_transcript_exon_variant,,ENST00000593348,;MAG,upstream_gene_variant,,ENST00000597162,;	uc002nyy.1	c.1468G>A	1627/2390	2	2			c.1468G>A						19	SNP	c.(1468-1470)GCG>ACG	26	26			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	Broad	myelin associated glycoprotein isoform a			35801013		0.706	ENSG00000105695	8991	g.chr19:35801013G>A	blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding							131.749339	KEEP	26	33	-1	29	41	26	33	-1	131.759917	29	41	0.512195	1	0	0	0	0	1	0	0	0	--	--		0	A			MAG_uc002nyx.1_Missense_Mutation_p.A490T|MAG_uc010eds.1_Missense_Mutation_p.A465T|MAG_uc002nyz.1_Missense_Mutation_p.A490T	119	GBM-12-0618-TP	p.A490T	G	CATCTGCACCGCGAGGAACCT	NM_002361	NP_002352	35801013	P20916	MAG_HUMAN	0	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		8	1617	+	A	A	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Missense_Mutation	490			Ig-like C2-type 4.|Extracellular (Potential).			
MAG	0	broad.mit.edu	GRCh37	19	35801000	35801000	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392213.3:c.1455C>T	p.Arg485=	p.R485=	ENST00000392213	NM_002361.3	485	cgC/cgT	0			1			T	R	uc002nyy.1	protein_coding	YES	CCDS12455.1			1455/1881									breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	c.(1453-1455)CGC>CGT			hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF23,Superfamily_domains:SSF48726	myelin associated glycoprotein isoform a				ENSP00000376048		11-Aug									COSM3404120,COSM3404119	11-Aug	.		ENST00000392213	Transcript			blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	ENSG00000105695	g.chr19:35801000C>T	6783			LOW								--	--	1																																		MAG_uc002nyx.1_Silent_p.R485R|MAG_uc010eds.1_Silent_p.R460R|MAG_uc002nyz.1_Silent_p.R485R	1,1	1			p.R485R	NM_002361	NP_002352			1,1	MAG_HUMAN	MAG	HGNC	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		M0R3I4_HUMAN,M0R3B9_HUMAN,M0QZU4_HUMAN		8	1604	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	UPI000012EB2F	485			Ig-like C2-type 4.|Extracellular (Potential).		SNV	MAG,synonymous_variant,p.=,ENST00000361922,NM_080600.2;MAG,synonymous_variant,p.=,ENST00000392213,NM_002361.3;MAG,synonymous_variant,p.=,ENST00000537831,NM_001199216.1;MAG,non_coding_transcript_exon_variant,,ENST00000593348,;MAG,upstream_gene_variant,,ENST00000597162,;	uc002nyy.1	c.1455C>T	1614/2390	1	1			c.1455C>T						19	SNP	c.(1453-1455)CGC>CGT	15	15			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	Broad	myelin associated glycoprotein isoform a			35801000		0.697	ENSG00000105695	8991	g.chr19:35801000C>T	blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding							26.841043	KEEP	5	8	-1	20	24	5	8	-1	28.763476	20	24	0.263158	1	0	0	0	0	0	0	1	0	--	--		0	T			MAG_uc002nyx.1_Silent_p.R485R|MAG_uc010eds.1_Silent_p.R460R|MAG_uc002nyz.1_Silent_p.R485R	159	GBM-19-1390-TP	p.R485R	C	CCCCGCCCCGCGTCATCTGCA	NM_002361	NP_002352	35801000	P20916	MAG_HUMAN	0	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		8	1604	+	T	T	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Silent	485			Ig-like C2-type 4.|Extracellular (Potential).			
MAG	0	broad.mit.edu	GRCh37	19	35786738	35786738	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4927-01	TCGA-76-4927-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392213.3:c.269G>A	p.Arg90His	p.R90H	ENST00000392213	NM_002361.3	90	cGc/cAc	0	A:0		1			A	R/H	uc002nyy.1	protein_coding	YES	CCDS12455.1			269/1881									breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	c.(268-270)CGC>CAC			Low_complexity_(Seg):seg,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF23,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	myelin associated glycoprotein isoform a			A:0.0001	ENSP00000376048		11-Apr	8.24E-06								rs201990546,COSM266878,COSM266879	11-Apr	.		ENST00000392213	Transcript			blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	ENSG00000105695	g.chr19:35786738G>A	6783			MODERATE		0.11	neutral	getma.org/?cm=msa&ty=f&p=MAG_HUMAN&rb=22&re=120&var=R90H	getma.org/pdb.php?prot=MAG_HUMAN&from=22&to=120&var=R90H	getma.org/?cm=var&var=hg19,19,35786738,G,A&fts=all	R90H	--	--	1																																		MAG_uc002nyx.1_Missense_Mutation_p.R90H|MAG_uc010eds.1_Missense_Mutation_p.R65H|MAG_uc002nyz.1_Missense_Mutation_p.R90H	0,1,1	1		benign(0.004)	p.R90H	NM_002361	NP_002352		deleterious(0.03)	0,1,1	MAG_HUMAN	MAG	HGNC	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		M0R3I4_HUMAN,M0R3B9_HUMAN,M0QZU4_HUMAN		4	418	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	UPI000012EB2F	90			Ig-like V-type.|Extracellular (Potential).		SNV	MAG,missense_variant,p.Arg90His,ENST00000361922,NM_080600.2;MAG,missense_variant,p.Arg90His,ENST00000392213,NM_002361.3;MAG,missense_variant,p.Arg65His,ENST00000537831,NM_001199216.1;MAG,missense_variant,p.Arg90His,ENST00000595791,;MAG,missense_variant,p.Arg65His,ENST00000600291,;MAG,intron_variant,,ENST00000597035,;	uc002nyy.1	c.269G>A	428/2390	2	2			c.269G>A						19	SNP	c.(268-270)CGC>CAC	45	45			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	Broad	myelin associated glycoprotein isoform a			35786738		0.652	ENSG00000105695	8991	g.chr19:35786738G>A	blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding							328.904794	KEEP	69	91	-1	245	241	69	91	-1	357.452793	245	241	0.26087	1	0	0	0	0	1	0	0	0	--	--		0	A			MAG_uc002nyx.1_Missense_Mutation_p.R90H|MAG_uc010eds.1_Missense_Mutation_p.R65H|MAG_uc002nyz.1_Missense_Mutation_p.R90H	267	GBM-76-4927-TP	p.R90H	G	GGCCGCAGCCGCCTCCTGGGG	NM_002361	NP_002352	35786738	P20916	MAG_HUMAN	0	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		4	418	+	A	A	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Missense_Mutation	90			Ig-like V-type.|Extracellular (Potential).			
MAGEA1	4100	broad.mit.edu	GRCh37	X	152482500	152482500	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356661.5:c.511C>T	p.Leu171Phe	p.L171F	ENST00000356661	NM_004988.4	171	Ctt/Ttt	0			1			A	L/F	uc004fhf.2	protein_coding	YES	CCDS14720.1			511/930								p.L171F(1)	central_nervous_system(7)|ovary(1)|lung(1)|breast(1)	10	c.(511-513)CTT>TTT			Pfam_domain:PF01454,PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF49	melanoma antigen family A, 1				ENSP00000349085		3-Mar									COSM43037	3-Mar	.		ENST00000356661	Transcript				cytoplasm|plasma membrane		ENSG00000198681	g.chrX:152482500G>A	6796			MODERATE		1.915	medium	getma.org/?cm=msa&ty=f&p=MAGA1_HUMAN&rb=109&re=279&var=L171F	getma.org/pdb.php?prot=MAGA1_HUMAN&from=109&to=279&var=L171F	getma.org/?cm=var&var=hg19,X,152482500,G,A&fts=all	L171F	--	--	1																																			1	1		possibly_damaging(0.618)	p.L171F	NM_004988	NP_004979		deleterious(0.04)	1	MAGA1_HUMAN	MAGEA1	HGNC	P43355	MAGA1_HUMAN			A8IF97_HUMAN		3	731	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		UPI0000035FCB	171			MAGE.		SNV	MAGEA1,missense_variant,p.Leu171Phe,ENST00000356661,NM_004988.4;	uc004fhf.2	c.511C>T	730/1708	2	2			c.511C>T						23	SNP	c.(511-513)CTT>TTT	37	37		p.L171F(1)	central_nervous_system(7)|ovary(1)|lung(1)|breast(1)	10	Broad	melanoma antigen family A, 1			152482500		0.517	ENSG00000198681	8992	g.chrX:152482500G>A		cytoplasm|plasma membrane								316.228943	KEEP	57	53	-1	92	59	57	53	-1	317.588609	92	59	0.418103	1	0	0	0	0	1	0	0	0	--	--		0	A				18	GBM-06-0137-TP	p.L171F	G	CAGGTGACAAGGACATAGGAG	NM_004988	NP_004979	152482500	P43355	MAGA1_HUMAN	0			3	731	-	A	A	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	171			MAGE.			
MAGEA10	0	broad.mit.edu	GRCh37	X	151303380	151303380	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1825-01	TCGA-14-1825-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000244096.3:c.713G>A	p.Gly238Asp	p.G238D	ENST00000244096	NM_001011543.2	238	gGc/gAc	0			1			T	G/D	uc004ffk.2	protein_coding		CCDS14705.1			713/1110										0	c.(712-714)GGC>GAC			Pfam_domain:PF01454,PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF19	melanoma antigen family A, 10				ENSP00000244096		5-May									COSM3406083	5-May	.		ENST00000244096	Transcript						ENSG00000124260	g.chrX:151303380C>T	6797			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=MAGAA_HUMAN&rb=141&re=311&var=G238D	getma.org/pdb.php?prot=MAGAA_HUMAN&from=141&to=311&var=G238D	getma.org/?cm=var&var=hg19,X,151303380,C,T&fts=all	G238D	--	--	1																																		MAGEA10_uc004ffl.2_Missense_Mutation_p.G238D	1			possibly_damaging(0.893)	p.G238D	NM_001011543	NP_001011543		deleterious(0.02)	1	MAGAA_HUMAN	MAGEA10	HGNC	P43363	MAGAA_HUMAN			J3QRD7_HUMAN,J3KT71_HUMAN,C9J9A2_HUMAN,C9J958_HUMAN		5	1121	-	Acute lymphoblastic leukemia(192;6.56e-05)		UPI00001AE6DA	238			MAGE.		SNV	MAGEA10,missense_variant,p.Gly238Asp,ENST00000370323,NM_021048.4,NM_001251828.1;MAGEA10,missense_variant,p.Gly238Asp,ENST00000244096,NM_001011543.2;MAGEA10,downstream_gene_variant,,ENST00000427322,;MAGEA10,downstream_gene_variant,,ENST00000444834,;MAGEA10,downstream_gene_variant,,ENST00000579960,;MAGEA10,downstream_gene_variant,,ENST00000583480,;RP11-329E24.6,upstream_gene_variant,,ENST00000453915,;RP11-1007I13.4,intron_variant,,ENST00000509345,;RP11-1007I13.4,intron_variant,,ENST00000583636,;RP11-1007I13.4,intron_variant,,ENST00000577437,;	uc004ffk.2	c.713G>A	1121/1591	1	1			c.713G>A						23	SNP	c.(712-714)GGC>GAC	8	8				0	Broad	melanoma antigen family A, 10			151303380		0.527	ENSG00000124260	8993	g.chrX:151303380C>T										147.531825	KEEP	29	19	-1	3	5	29	19	-1	153.487621	3	5	0.846154	1	0	0	0	0	1	0	0	0	--	--		0	T			MAGEA10_uc004ffl.2_Missense_Mutation_p.G238D	148	GBM-14-1825-TP	p.G238D	C	GGTGCAGTAGCCCTCTATGAA	NM_001011543	NP_001011543	151303380	P43363	MAGAA_HUMAN	0			5	1121	-	T	T	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	238			MAGE.			
MAGEA12	0	broad.mit.edu	GRCh37	X	151900207	151900207	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-12-3649-01	TCGA-12-3649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357916.4:c.594G>T	p.Lys198Asn	p.K198N	ENST00000357916	NM_005367.5	198	aaG/aaT	0			1			A	K/N	uc010ntp.2	protein_coding		CCDS14710.1			594/945									skin(1)	1	c.(592-594)AAG>AAT			Pfam_domain:PF01454,PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF74	melanoma antigen family A, 12				ENSP00000350592		2-Feb									COSM3406090	2-Feb	.		ENST00000357916	Transcript						ENSG00000213401	g.chrX:151900207C>A	6799			MODERATE		3.81	high	getma.org/?cm=msa&ty=f&p=MAGAC_HUMAN&rb=116&re=286&var=K198N	getma.org/pdb.php?prot=MAGAC_HUMAN&from=116&to=286&var=K198N	getma.org/?cm=var&var=hg19,X,151900207,C,A&fts=all	K198N	--	--	1																																		MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Missense_Mutation_p.K198N	1			probably_damaging(0.94)	p.K198N	NM_005367	NP_005358		deleterious(0.01)	1	MAGAC_HUMAN	MAGEA12	HGNC	P43365	MAGAC_HUMAN			Q6FHH8_HUMAN		3	948	-	Acute lymphoblastic leukemia(192;6.56e-05)		UPI0000000C51	198			MAGE.		SNV	MAGEA12,missense_variant,p.Lys198Asn,ENST00000393900,NM_001166386.1;MAGEA12,missense_variant,p.Lys198Asn,ENST00000393869,NM_001166387.1;MAGEA12,missense_variant,p.Lys198Asn,ENST00000357916,NM_005367.5;CSAG1,upstream_gene_variant,,ENST00000370291,;CSAG1,upstream_gene_variant,,ENST00000370287,NM_153478.1;CSAG1,upstream_gene_variant,,ENST00000452779,NM_001102576.1;CSAG4,intron_variant,,ENST00000361201,;CSAG1,upstream_gene_variant,,ENST00000361211,;CSAG4,upstream_gene_variant,,ENST00000583763,;CSAG4,upstream_gene_variant,,ENST00000535353,;	uc010ntp.2	c.594G>T	750/1664	2	2			c.594G>T						23	SNP	c.(592-594)AAG>AAT	36	36			skin(1)	1	Broad	melanoma antigen family A, 12			151900207		0.577	ENSG00000213401	8995	g.chrX:151900207C>A										340.279876	KEEP	56	58	0.50877193	16	8	56	58	0.50877193	353.055709	16	8	0.823077	1	0	0	0	0	1	0	0	0	--	--		0	A			MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Missense_Mutation_p.K198N	125	GBM-12-3649-TP	p.K198N	C	GGAGGCCTGTCTTGGGCACGA	NM_005367	NP_005358	151900207	P43365	MAGAC_HUMAN	0			3	948	-	A	A	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	198			MAGE.			
MAGEA12	0	broad.mit.edu	GRCh37	X	151900252	151900252	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5219-01	TCGA-28-5219-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357916.4:c.549C>T	p.Gly183=	p.G183=	ENST00000357916	NM_005367.5	183	ggC/ggT	0			1			A	G	uc010ntp.2	protein_coding		CCDS14710.1			549/945									skin(1)	1	c.(547-549)GGC>GGT			Pfam_domain:PF01454,PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF74	melanoma antigen family A, 12				ENSP00000350592		2-Feb									COSM3406091	2-Feb	.		ENST00000357916	Transcript						ENSG00000213401	g.chrX:151900252G>A	6799			LOW								--	--	1																																		MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Silent_p.G183G|CSAG1_uc004fge.2_5'Flank|CSAG1_uc004fgf.2_5'Flank|CSAG1_uc004fgd.2_5'Flank	1				p.G183G	NM_005367	NP_005358			1	MAGAC_HUMAN	MAGEA12	HGNC	P43365	MAGAC_HUMAN			Q6FHH8_HUMAN		3	903	-	Acute lymphoblastic leukemia(192;6.56e-05)		UPI0000000C51	183			MAGE.		SNV	MAGEA12,synonymous_variant,p.=,ENST00000393900,NM_001166386.1;MAGEA12,synonymous_variant,p.=,ENST00000393869,NM_001166387.1;MAGEA12,synonymous_variant,p.=,ENST00000357916,NM_005367.5;CSAG1,upstream_gene_variant,,ENST00000370291,;CSAG1,upstream_gene_variant,,ENST00000370287,NM_153478.1;CSAG1,upstream_gene_variant,,ENST00000452779,NM_001102576.1;CSAG4,intron_variant,,ENST00000361201,;CSAG1,upstream_gene_variant,,ENST00000361211,;CSAG4,upstream_gene_variant,,ENST00000583763,;CSAG4,upstream_gene_variant,,ENST00000535353,;	uc010ntp.2	c.549C>T	705/1664	2	2			c.549C>T						23	SNP	c.(547-549)GGC>GGT	35	35			skin(1)	1	Broad	melanoma antigen family A, 12			151900252		0.577	ENSG00000213401	8995	g.chrX:151900252G>A										-27.494968	KEEP	8	12	-1	167	169	8	12	-1	39.558272	167	169	0.060241	1	0	0	0	0	0	0	1	0	--	--		0	A			MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Silent_p.G183G|CSAG1_uc004fge.2_5'Flank|CSAG1_uc004fgf.2_5'Flank|CSAG1_uc004fgd.2_5'Flank	225	GBM-28-5219-TP	p.G183G	G	CGTAGGAGAGGCCCAGGCAGG	NM_005367	NP_005358	151900252	P43365	MAGAC_HUMAN	0			3	903	-	A	A	Acute lymphoblastic leukemia(192;6.56e-05)		Silent	183			MAGE.			
MAGEA5	4104	broad.mit.edu	GRCh37	X	151283685	151283685	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A			TCGA-06-1804-01	TCGA-06-1804-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000427663.2:n.533A>T		p.*178*	ENST00000427663				0			1			A		uc004ffj.2	processed_transcript	YES														0	c.(328-330)AGT>TGT				melanoma antigen family A, 5						4-Apr									COSM2152500	4-Apr	.		ENST00000509345	Transcript						ENSG00000266560	g.chrX:151283685T>A				MODIFIER		2.24	medium	getma.org/?cm=msa&ty=f&p=MAGA5_HUMAN&rb=3&re=124&var=S110C	getma.org/pdb.php?prot=MAGA5_HUMAN&from=3&to=124&var=S110C	getma.org/?cm=var&var=hg19,X,151283685,T,A&fts=all	S110C	0.55	neutral	1																																			1				p.S110C	NM_021049	NP_066387			1		RP11-1007I13.4	Clone_based_vega_gene	P43359	MAGA5_HUMAN					3	533	-	Acute lymphoblastic leukemia(192;6.56e-05)			110			MAGE.		SNV	RP11-1007I13.4,non_coding_transcript_exon_variant,,ENST00000509345,;RP11-1007I13.4,non_coding_transcript_exon_variant,,ENST00000583636,;MAGEA5,non_coding_transcript_exon_variant,,ENST00000427663,;MAGEA5,non_coding_transcript_exon_variant,,ENST00000446757,;	uc004ffj.2	c.328A>T	652/871	1	1			c.328A>T						23	SNP	c.(328-330)AGT>TGT	63	63				0	Broad	melanoma antigen family A, 5			151283685		0.488	ENSG00000266560	8998	g.chrX:151283685T>A										255.564022	KEEP	47	48	-1	69	75	47	48	-1	257.895435	69	75	0.388889	1	0	0	0	0	1	0	0	0	0.55	neutral		0	A				79	GBM-06-1804-TP	p.S110C	T	ACCTTCTTACTGAGTGCTGCT	NM_021049	NP_066387	151283685	P43359	MAGA5_HUMAN	0			3	533	-	A	A	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	110			MAGE.			
MAGEA6	0	broad.mit.edu	GRCh37	X	151870122	151870122	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-26-5132-01	TCGA-26-5132-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329342.5:c.812T>A	p.Phe271Tyr	p.F271Y	ENST00000329342	NM_005363.2	271	tTc/tAc	0			1			A	F/Y	uc004ffq.1	protein_coding	YES	CCDS14708.1			812/945										0	c.(811-813)TTC>TAC			PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF60,hmmpanther:PTHR11736,Pfam_domain:PF01454	melanoma antigen family A, 6				ENSP00000329199		3-Mar									COSM3406089	3-Mar	.		ENST00000329342	Transcript					protein binding	ENSG00000197172	g.chrX:151870122T>A	6804			MODERATE		2.735	medium	getma.org/?cm=msa&ty=f&p=MAGA6_HUMAN&rb=116&re=286&var=F271Y	getma.org/pdb.php?prot=MAGA6_HUMAN&from=116&to=286&var=F271Y	getma.org/?cm=var&var=hg19,X,151870122,T,A&fts=all	F271Y	--	--	1																																		MAGEA6_uc004ffr.1_Missense_Mutation_p.F271Y|MAGEA2_uc010nto.2_Intron	1	1		probably_damaging(0.996)	p.F271Y	NM_005363	NP_005354		deleterious(0.03)	1	MAGA6_HUMAN	MAGEA6	HGNC	P43360	MAGA6_HUMAN			E7EUF2_HUMAN,E7ETG4_HUMAN,B9A060_HUMAN		3	1006	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000000D9B0	271			MAGE.		SNV	MAGEA6,missense_variant,p.Phe271Tyr,ENST00000329342,NM_005363.2;MAGEA6,downstream_gene_variant,,ENST00000457643,;MAGEA6,downstream_gene_variant,,ENST00000412733,NM_175868.1;	uc004ffq.1	c.812T>A	1037/1740	2	2			c.812T>A						23	SNP	c.(811-813)TTC>TAC	45	45				0	Broad	melanoma antigen family A, 6			151870122		0.532	ENSG00000197172	8999	g.chrX:151870122T>A			protein binding							50.065371	KEEP	16	19	-1	99	117	16	19	-1	79.483901	99	117	0.144628	1	0	0	0	0	1	0	0	0	--	--		0	A			MAGEA6_uc004ffr.1_Missense_Mutation_p.F271Y|MAGEA2_uc010nto.2_Intron	181	GBM-26-5132-TP	p.F271Y	T	TGCTATGAGTTCCTGTGGGGT	NM_005363	NP_005354	151870122	P43360	MAGA6_HUMAN	0			3	1006	+	A	A	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	271			MAGE.			
MAGEA6	0	broad.mit.edu	GRCh37	X	151869622	151869622	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329342.5:c.312G>T	p.Glu104Asp	p.E104D	ENST00000329342	NM_005363.2	104	gaG/gaT	0			1			T	E/D	uc004ffq.1	protein_coding	YES	CCDS14708.1			312/945										0	c.(310-312)GAG>GAT			hmmpanther:PTHR11736:SF60,hmmpanther:PTHR11736	melanoma antigen family A, 6				ENSP00000329199		3-Mar									COSM3406088	3-Mar	.		ENST00000329342	Transcript					protein binding	ENSG00000197172	g.chrX:151869622G>T	6804			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=MAGA6_HUMAN&rb=69&re=145&var=E104D	NA	getma.org/?cm=var&var=hg19,X,151869622,G,T&fts=all	E104D	--	--	1																																		MAGEA6_uc004ffr.1_Missense_Mutation_p.E104D|MAGEA2_uc010nto.2_Intron	1	1		benign(0.001)	p.E104D	NM_005363	NP_005354		tolerated(0.06)	1	MAGA6_HUMAN	MAGEA6	HGNC	P43360	MAGA6_HUMAN			E7EUF2_HUMAN,E7ETG4_HUMAN,B9A060_HUMAN		3	506	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000000D9B0	104					SNV	MAGEA6,missense_variant,p.Glu104Asp,ENST00000329342,NM_005363.2;MAGEA6,missense_variant,p.Glu104Asp,ENST00000457643,;MAGEA6,missense_variant,p.Glu104Asp,ENST00000412733,NM_175868.1;	uc004ffq.1	c.312G>T	537/1740	1	1			c.312G>T						23	SNP	c.(310-312)GAG>GAT	16	16				0	Broad	melanoma antigen family A, 6			151869622		0.547	ENSG00000197172	8999	g.chrX:151869622G>T			protein binding							138.977918	KEEP	33	23	0.589285714	99	92	33	23	0.589285714	152.779669	99	92	0.243478	1	0	0	0	0	1	0	0	0	--	--		0	T			MAGEA6_uc004ffr.1_Missense_Mutation_p.E104D|MAGEA2_uc010nto.2_Intron	232	GBM-32-1982-TP	p.E104D	G	TGGAGTCTGAGTTCCAAGCAG	NM_005363	NP_005354	151869622	P43360	MAGA6_HUMAN	0			3	506	+	T	T	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	104						
MAGEA8	0	broad.mit.edu	GRCh37	X	149013837	149013837	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01	TCGA-19-5950-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286482.1:c.791C>T	p.Ala264Val	p.A264V	ENST00000286482	NM_005364.4	264	gCg/gTg	0			1			T	A/V	uc004fdw.1	protein_coding		CCDS14692.1			791/957										0	c.(790-792)GCG>GTG			Pfam_domain:PF01454,PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF65	melanoma antigen family A, 8				ENSP00000286482		3-Mar									COSM1292945	3-Mar	.		ENST00000286482	Transcript						ENSG00000156009	g.chrX:149013837C>T	6806			MODERATE		-2.845	neutral	getma.org/?cm=msa&ty=f&p=MAGA8_HUMAN&rb=119&re=289&var=A264V	getma.org/pdb.php?prot=MAGA8_HUMAN&from=119&to=289&var=A264V	getma.org/?cm=var&var=hg19,X,149013837,C,T&fts=all	A264V	--	--	1																																			1			benign(0.001)	p.A264V	NM_005364	NP_005355		tolerated(1)	1	MAGA8_HUMAN	MAGEA8	HGNC	P43361	MAGA8_HUMAN					3	1006	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI0000071C79	264			MAGE.		SNV	MAGEA8,missense_variant,p.Ala264Val,ENST00000535454,NM_001166400.1;MAGEA8,missense_variant,p.Ala264Val,ENST00000542674,NM_001166401.1;MAGEA8,missense_variant,p.Ala264Val,ENST00000286482,NM_005364.4;MAGEA8-AS1,upstream_gene_variant,,ENST00000427671,;MAGEA8,downstream_gene_variant,,ENST00000493910,;MAGEA8,downstream_gene_variant,,ENST00000345830,;	uc004fdw.1	c.791C>T	1007/1778	2	2			c.791C>T						23	SNP	c.(790-792)GCG>GTG	17	17				0	Broad	melanoma antigen family A, 8			149013837		0.577	ENSG00000156009	9000	g.chrX:149013837C>T										257.229614	KEEP	48	52	-1	60	64	48	52	-1	258.006611	60	64	0.434146	1	0	0	0	0	1	0	0	0	--	--		0	T				170	GBM-19-5950-TP	p.A264V	C	TACCGCCAGGCGCCCGGCAGT	NM_005364	NP_005355	149013837	P43361	MAGA8_HUMAN	0			3	1006	+	T	T	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	264			MAGE.			
MAGEB1	4112	broad.mit.edu	GRCh37	X	30268639	30268639	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs113819941		TCGA-06-0211-01	TCGA-06-0211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378981.3:c.29G>A	p.Arg10His	p.R10H	ENST00000378981	NM_002363.4	10	cGt/cAt	0			1			A	R/H	uc004dcc.2	protein_coding	YES	CCDS14222.1			29/1044										0	c.(28-30)CGT>CAT			Low_complexity_(Seg):seg,Pfam_domain:PF12440,hmmpanther:PTHR11736:SF52,hmmpanther:PTHR11736	melanoma antigen family B, 1				ENSP00000368264		4-Apr									rs113819941,COSM2150777	4-Apr	.		ENST00000378981	Transcript						ENSG00000214107	g.chrX:30268639G>A	6808			MODERATE		2.54	medium	getma.org/?cm=msa&ty=f&p=MAGB1_HUMAN&rb=3&re=94&var=R10H	NA	getma.org/?cm=var&var=hg19,X,30268639,G,A&fts=all	R10H	--	--	1																																		MAGEB1_uc004dcd.2_Missense_Mutation_p.R10H|MAGEB1_uc004dce.2_Missense_Mutation_p.R10H	0,1	1		probably_damaging(0.945)	p.R10H	NM_002363	NP_002354		tolerated(0.09)	0,1	MAGB1_HUMAN	MAGEB1	HGNC	P43366	MAGB1_HUMAN					4	349	+			UPI000012F053	10					SNV	MAGEB1,missense_variant,p.Arg10His,ENST00000378981,NM_002363.4;MAGEB1,missense_variant,p.Arg10His,ENST00000397550,NM_177415.2;MAGEB1,missense_variant,p.Arg10His,ENST00000397548,NM_177404.2;	uc004dcc.2	c.29G>A	350/1866	2	2			c.29G>A						23	SNP	c.(28-30)CGT>CAT	28	28				0	Broad	melanoma antigen family B, 1			30268639		0.587	ENSG00000214107	9001	g.chrX:30268639G>A										68.567977	KEEP	12	11	-1	0	1	12	11	-1	71.090561	0	1	0.952381	1	0	0	0	0	1	0	0	0	--	--		0	A			MAGEB1_uc004dcd.2_Missense_Mutation_p.R10H|MAGEB1_uc004dce.2_Missense_Mutation_p.R10H	48	GBM-06-0211-TP	p.R10H	G	AGTAAGCTCCGTGCTCGTGAG	NM_002363	NP_002354	30268639	P43366	MAGB1_HUMAN	0			4	349	+	A	A			Missense_Mutation	10						
MAGEB1	0	broad.mit.edu	GRCh37	X	30269614	30269614	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01	TCGA-15-0742-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378981.3:c.1004G>A	p.Arg335His	p.R335H	ENST00000378981	NM_002363.4	335	cGt/cAt	0			1			A	R/H	uc004dcc.2	protein_coding	YES	CCDS14222.1			1004/1044										0	c.(1003-1005)CGT>CAT			Low_complexity_(Seg):seg,hmmpanther:PTHR11736:SF52,hmmpanther:PTHR11736	melanoma antigen family B, 1				ENSP00000368264		4-Apr									COSM3406278	4-Apr	.		ENST00000378981	Transcript						ENSG00000214107	g.chrX:30269614G>A	6808			MODERATE		0.43	neutral	getma.org/?cm=msa&ty=f&p=MAGB1_HUMAN&rb=286&re=347&var=R335H	NA	getma.org/?cm=var&var=hg19,X,30269614,G,A&fts=all	R335H	--	--	1																																		MAGEB1_uc004dcd.2_Missense_Mutation_p.R335H|MAGEB1_uc004dce.2_Missense_Mutation_p.R335H	1	1		unknown(0)	p.R335H	NM_002363	NP_002354		tolerated(0.29)	1	MAGB1_HUMAN	MAGEB1	HGNC	P43366	MAGB1_HUMAN					4	1324	+			UPI000012F053	335					SNV	MAGEB1,missense_variant,p.Arg335His,ENST00000378981,NM_002363.4;MAGEB1,missense_variant,p.Arg335His,ENST00000397550,NM_177415.2;MAGEB1,missense_variant,p.Arg335His,ENST00000397548,NM_177404.2;	uc004dcc.2	c.1004G>A	1325/1866	2	2			c.1004G>A						23	SNP	c.(1003-1005)CGT>CAT	45	45				0	Broad	melanoma antigen family B, 1			30269614		0.507	ENSG00000214107	9001	g.chrX:30269614G>A										191.817797	KEEP	29	38	-1	3	5	29	38	-1	200.852008	3	5	0.876923	1	0	0	0	0	1	0	0	0	--	--		0	A			MAGEB1_uc004dcd.2_Missense_Mutation_p.R335H|MAGEB1_uc004dce.2_Missense_Mutation_p.R335H	153	GBM-15-0742-TP	p.R335H	G	TTTAGAGCGCGTTCTAGAGCC	NM_002363	NP_002354	30269614	P43366	MAGB1_HUMAN	0			4	1324	+	A	A			Missense_Mutation	335						
MAGEB1	4112		GRCh37	X	30269233	30269233	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000378981.3:c.623T>C	p.Ile208Thr	p.I208T	ENST00000378981	NM_002363.4	208	aTc/aCc	0																																																																																																																																																																																																																																												
MAGEB16	0	broad.mit.edu	GRCh37	X	35820799	35820799	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-27-2521-01	TCGA-27-2521-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399985.1:c.486A>G	p.Leu162=	p.L162=	ENST00000399985		162	ctA/ctG	0			1			G	L	uc010ngt.1	protein_coding		CCDS43927.1			486/975									lung(3)|ovary(2)|breast(1)|skin(1)	7	c.(484-486)CTA>CTG			Pfam_domain:PF01454,PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF24	melanoma antigen family B, 16				ENSP00000382867		2-Feb									COSM3406326,COSM3406327	2-Feb	.		ENST00000399985	Transcript						ENSG00000189023	g.chrX:35820799A>G	21188			LOW								--	--	1																																			1,1				p.L162L	NM_001099921	NP_001093391			1,1	MAGBG_HUMAN	MAGEB16	HGNC	A2A368	MAGBG_HUMAN					2	765	+			UPI00006C1BC1	162			MAGE.		SNV	MAGEB16,synonymous_variant,p.=,ENST00000399989,NM_001099921.1;MAGEB16,synonymous_variant,p.=,ENST00000399987,;MAGEB16,synonymous_variant,p.=,ENST00000399992,;MAGEB16,synonymous_variant,p.=,ENST00000399988,;MAGEB16,synonymous_variant,p.=,ENST00000399985,;	uc010ngt.1	c.486A>G	614/1667	3	3			c.486A>G						23	SNP	c.(484-486)CTA>CTG	3	3			lung(3)|ovary(2)|breast(1)|skin(1)	7	Broad	melanoma antigen family B, 16			35820799		0.468	ENSG00000189023	9003	g.chrX:35820799A>G						43			43	314.566929	KEEP	46	47	-1	4	2	46	47	-1	328.727562	4	2	0.928571	1	0	0	0	0	0	0	1	0	--	--		0	G				200	GBM-27-2521-TP	p.L162L	A	CTGAGCACCTAGAGATGATAT	NM_001099921	NP_001093391	35820799	A2A368	MAGBG_HUMAN	0			2	765	+	G	G			Silent	162			MAGE.			
MAGEB16	139604		GRCh37	X	35821053	35821053	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000399989.1:c.740G>A	p.Arg247Lys	p.R247K	ENST00000399989	NM_001099921.1	247	aGa/aAa	0																																																																																																																																																																																																																																												
MAGEB18	0	broad.mit.edu	GRCh37	X	26157310	26157310	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-2624-01	TCGA-19-2624-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325250.1:c.208A>G	p.Thr70Ala	p.T70A	ENST00000325250	NM_173699.3	70	Acc/Gcc	0			1			G	T/A	uc004dbq.1	protein_coding	YES	CCDS14216.1			208/1032									central_nervous_system(1)	1	c.(208-210)ACC>GCC			hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF23,Pfam_domain:PF12440	melanoma antigen family B, 18				ENSP00000314543		3-Feb									COSM2156264	3-Feb	.		ENST00000325250	Transcript					protein binding	ENSG00000176774	g.chrX:26157310A>G	28515			MODERATE		1.345	low	getma.org/?cm=msa&ty=f&p=MAGBI_HUMAN&rb=3&re=96&var=T70A	NA	getma.org/?cm=var&var=hg19,X,26157310,A,G&fts=all	T70A	--	--	1																																			1	1		benign(0.074)	p.T70A	NM_173699	NP_775970		tolerated(0.11)	1	MAGBI_HUMAN	MAGEB18	HGNC	Q96M61	MAGBI_HUMAN					2	395	+			UPI00001415E3	70					SNV	MAGEB18,missense_variant,p.Thr70Ala,ENST00000325250,NM_173699.3;	uc004dbq.1	c.208A>G	395/1811	4	4			c.208A>G						23	SNP	c.(208-210)ACC>GCC	18	18			central_nervous_system(1)	1	Broad	melanoma antigen family B, 18			26157310		0.532	ENSG00000176774	9004	g.chrX:26157310A>G			protein binding							71.651391	KEEP	18	13	-1	3	2	18	13	-1	74.154628	3	2	0.814815	1	0	0	0	0	1	0	0	0	--	--		0	G				164	GBM-19-2624-TP	p.T70A	A	AGCCCCATCCACCACCAATGC	NM_173699	NP_775970	26157310	Q96M61	MAGBI_HUMAN	0			2	395	+	G	G			Missense_Mutation	70						
MAGEB2	0	broad.mit.edu	GRCh37	X	30236767	30236767	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-28-2513-01	TCGA-28-2513-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378988.4:c.70G>T	p.Gly24Cys	p.G24C	ENST00000378988	NM_002364.4	24	Ggt/Tgt	0			1			T	G/C	uc004dbz.2	protein_coding	YES	CCDS14219.1			70/960									ovary(1)	1	c.(70-72)GGT>TGT			Pfam_domain:PF12440,hmmpanther:PTHR11736:SF22,hmmpanther:PTHR11736	melanoma antigen family B, 2				ENSP00000368273		2-Feb	8.24E-06							0.000126	rs759205287,COSM3406271,COSM3406270	2-Feb	.		ENST00000378988	Transcript					protein binding	ENSG00000099399	g.chrX:30236767G>T	6809			MODERATE		1.765	low	getma.org/?cm=msa&ty=f&p=MAGB2_HUMAN&rb=3&re=97&var=G24C	NA	getma.org/?cm=var&var=hg19,X,30236767,G,T&fts=all	G24C	0	neutral	1																																			0,1,1	1		probably_damaging(0.951)	p.G24C	NM_002364	NP_002355		tolerated(0.07)	0,1,1	MAGB2_HUMAN	MAGEB2	HGNC	O15479	MAGB2_HUMAN					2	173	+			UPI000013C683	24					SNV	MAGEB2,missense_variant,p.Gly24Cys,ENST00000378988,NM_002364.4;	uc004dbz.2	c.70G>T	171/1610	2	2			c.70G>T						23	SNP	c.(70-72)GGT>TGT	44	44			ovary(1)	1	Broad	melanoma antigen family B, 2			30236767		0.577	ENSG00000099399	9005	g.chrX:30236767G>T			protein binding							13.162897	KEEP	2	6	0.25	32	19	2	6	0.25	19.582759	32	19	0.148148	1	0	0	0	0	1	0	0	0	0	neutral		0	T				213	GBM-28-2513-TP	p.G24C	G	TGAGACCCGGGGTCTCAATGT	NM_002364	NP_002355	30236767	O15479	MAGB2_HUMAN	0			2	173	+	T	T			Missense_Mutation	24						
MAGEB3	0	broad.mit.edu	GRCh37	X	30254384	30254384	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-41-4097-01	TCGA-41-4097-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361644.2:c.343A>G	p.Thr115Ala	p.T115A	ENST00000361644	NM_002365.4	115	Aca/Gca	0			1			G	T/A	uc004dca.1	protein_coding	YES	CCDS14220.1			343/1041										0	c.(343-345)ACA>GCA			PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF53,hmmpanther:PTHR11736	melanoma antigen family B, 3				ENSP00000355198		5-May									COSM3406272	5-May	.		ENST00000361644	Transcript						ENSG00000198798	g.chrX:30254384A>G	6810			MODERATE		-0.21	neutral	getma.org/?cm=msa&ty=f&p=MAGB3_HUMAN&rb=111&re=310&var=T115A	getma.org/pdb.php?prot=MAGB3_HUMAN&from=111&to=310&var=T115A	getma.org/?cm=var&var=hg19,X,30254384,A,G&fts=all	T115A	--	--	1																																			1	1		benign(0)	p.T115A	NM_002365	NP_002356		tolerated(0.7)	1	MAGB3_HUMAN	MAGEB3	HGNC	O15480	MAGB3_HUMAN					5	1080	+			UPI000013E79F	115			MAGE.		SNV	MAGEB3,missense_variant,p.Thr115Ala,ENST00000361644,NM_002365.4;	uc004dca.1	c.343A>G	1080/2303	3	3			c.343A>G						23	SNP	c.(343-345)ACA>GCA	10	10				0	Broad	melanoma antigen family B, 3			30254384		0.403	ENSG00000198798	9006	g.chrX:30254384A>G										-11.125852	KEEP	13	12	-1	75	77	13	12	-1	20.732898	75	77	0.05298	1	0	0	0	0	1	0	0	0	--	--		0	G				257	GBM-41-4097-TP	p.T115A	A	AATCATGAAGACAAATATGTT	NM_002365	NP_002356	30254384	O15480	MAGB3_HUMAN	0			5	1080	+	G	G			Missense_Mutation	115			MAGE.			
MAGEB4	4115	broad.mit.edu	GRCh37	X	30260976	30260976	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0241-01	TCGA-06-0241-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378982.2:c.724C>T	p.Arg242Ter	p.R242*	ENST00000378982	NM_002367.3	242	Cga/Tga	0			1			T	R/*	uc004dcb.2	protein_coding	YES	CCDS14221.1			724/1041									ovary(1)	1	c.(724-726)CGA>TGA			Pfam_domain:PF01454,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF75,PROSITE_profiles:PS50838	melanoma antigen family B, 4				ENSP00000368266		1-Jan									COSM2151164	1-Jan	.		ENST00000378982	Transcript						ENSG00000120289	g.chrX:30260976C>T	6811			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,X,30260976,C,T&fts=all	R242*	--	--	1																																		MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	1	1			p.R242*	NM_002367	NP_002358			1	MAGB4_HUMAN	MAGEB4	HGNC	O15481	MAGB4_HUMAN					1	808	+			UPI000012F055	242			MAGE.		SNV	MAGEB4,stop_gained,p.Arg242Ter,ENST00000378982,NM_002367.3;MAGEB1,upstream_gene_variant,,ENST00000378981,NM_002363.4;MAGEB1,upstream_gene_variant,,ENST00000397550,NM_177415.2;MAGEB1,upstream_gene_variant,,ENST00000397548,NM_177404.2;	uc004dcb.2	c.724C>T	920/2237	5	1			c.724C>T						23	SNP	c.(724-726)CGA>TGA	1	1			ovary(1)	1	Broad	melanoma antigen family B, 4			30260976		0.488	ENSG00000120289	9007	g.chrX:30260976C>T										159.882926	KEEP	28	28	-1	35	35	28	28	-1	160.294905	35	35	0.436975	1	0	0	0	0	0	1	0	0	--	--		0	T			MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	57	GBM-06-0241-TP	p.R242*	C	TGGGGAACCCCGAAAGCTCAT	NM_002367	NP_002358	30260976	O15481	MAGB4_HUMAN	0			1	808	+	T	T			Nonsense_Mutation	242			MAGE.			
MAGEB4	0	broad.mit.edu	GRCh37	X	30260502	30260502	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01	TCGA-12-3652-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378982.2:c.250G>A	p.Asp84Asn	p.D84N	ENST00000378982	NM_002367.3	84	Gac/Aac	0	A:0		1			A	D/N	uc004dcb.2	protein_coding	YES	CCDS14221.1			250/1041									ovary(1)	1	c.(250-252)GAC>AAC			Pfam_domain:PF12440,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF75	melanoma antigen family B, 4			A:0.0001	ENSP00000368266		1-Jan	6.59E-05		0.000118	0.000174		7.27E-05			rs201048812,COSM3748193	1-Jan	.		ENST00000378982	Transcript						ENSG00000120289	g.chrX:30260502G>A	6811			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=MAGB4_HUMAN&rb=3&re=95&var=D84N	NA	getma.org/?cm=var&var=hg19,X,30260502,G,A&fts=all	D84N	--	--	1																																		MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	0,1	1		benign(0.363)	p.D84N	NM_002367	NP_002358		deleterious(0.01)	0,1	MAGB4_HUMAN	MAGEB4	HGNC	O15481	MAGB4_HUMAN					1	334	+			UPI000012F055	84					SNV	MAGEB4,missense_variant,p.Asp84Asn,ENST00000378982,NM_002367.3;MAGEB3,downstream_gene_variant,,ENST00000361644,NM_002365.4;MAGEB1,upstream_gene_variant,,ENST00000378981,NM_002363.4;MAGEB1,upstream_gene_variant,,ENST00000397550,NM_177415.2;MAGEB1,upstream_gene_variant,,ENST00000397548,NM_177404.2;	uc004dcb.2	c.250G>A	446/2237	2	2			c.250G>A						23	SNP	c.(250-252)GAC>AAC	48	48			ovary(1)	1	Broad	melanoma antigen family B, 4			30260502		0.517	ENSG00000120289	9007	g.chrX:30260502G>A										6.315371	KEEP	2	1	-1	6	7	2	1	-1	7.778642	6	7	0.1875	1	0	0	0	0	1	0	0	0	--	--		0	A			MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	127	GBM-12-3652-TP	p.D84N	G	TGATAAAGGCGACGAGAGCCA	NM_002367	NP_002358	30260502	O15481	MAGB4_HUMAN	0			1	334	+	A	A			Missense_Mutation	84						
MAGEB4	0	broad.mit.edu	GRCh37	X	30260469	30260469	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1833-01	TCGA-27-1833-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378982.2:c.217G>A	p.Ala73Thr	p.A73T	ENST00000378982	NM_002367.3	73	Gca/Aca	0			1			A	A/T	uc004dcb.2	protein_coding	YES	CCDS14221.1			217/1041									ovary(1)	1	c.(217-219)GCA>ACA			Pfam_domain:PF12440,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF75	melanoma antigen family B, 4				ENSP00000368266		1-Jan									COSM3406273	1-Jan	.		ENST00000378982	Transcript						ENSG00000120289	g.chrX:30260469G>A	6811			MODERATE		2.48	medium	getma.org/?cm=msa&ty=f&p=MAGB4_HUMAN&rb=3&re=95&var=A73T	NA	getma.org/?cm=var&var=hg19,X,30260469,G,A&fts=all	A73T	--	--	1																																		MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	1	1		benign(0.395)	p.A73T	NM_002367	NP_002358		tolerated(0.05)	1	MAGB4_HUMAN	MAGEB4	HGNC	O15481	MAGB4_HUMAN					1	301	+			UPI000012F055	73					SNV	MAGEB4,missense_variant,p.Ala73Thr,ENST00000378982,NM_002367.3;MAGEB3,downstream_gene_variant,,ENST00000361644,NM_002365.4;MAGEB1,upstream_gene_variant,,ENST00000378981,NM_002363.4;MAGEB1,upstream_gene_variant,,ENST00000397550,NM_177415.2;MAGEB1,upstream_gene_variant,,ENST00000397548,NM_177404.2;	uc004dcb.2	c.217G>A	413/2237	2	2			c.217G>A						23	SNP	c.(217-219)GCA>ACA	20	20			ovary(1)	1	Broad	melanoma antigen family B, 4			30260469		0.527	ENSG00000120289	9007	g.chrX:30260469G>A										48.366543	KEEP	14	12	-1	15	13	14	12	-1	48.563174	15	13	0.425	1	0	0	0	0	1	0	0	0	--	--		0	A			MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	192	GBM-27-1833-TP	p.A73T	G	CTCTGCTGCTGCAGCTATGTC	NM_002367	NP_002358	30260469	O15481	MAGB4_HUMAN	0			1	301	+	A	A			Missense_Mutation	73						
MAGEB4	0	broad.mit.edu	GRCh37	X	30260607	30260607	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-28-2513-01	TCGA-28-2513-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378982.2:c.355T>A	p.Phe119Ile	p.F119I	ENST00000378982	NM_002367.3	119	Ttc/Atc	0			1			A	F/I	uc004dcb.2	protein_coding	YES	CCDS14221.1			355/1041									ovary(1)	1	c.(355-357)TTC>ATC			Pfam_domain:PF01454,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF75,PROSITE_profiles:PS50838	melanoma antigen family B, 4				ENSP00000368266		1-Jan									COSM3406274	1-Jan	.		ENST00000378982	Transcript						ENSG00000120289	g.chrX:30260607T>A	6811			MODERATE		3.735	high	getma.org/?cm=msa&ty=f&p=MAGB4_HUMAN&rb=116&re=285&var=F119I	getma.org/pdb.php?prot=MAGB4_HUMAN&from=116&to=285&var=F119I	getma.org/?cm=var&var=hg19,X,30260607,T,A&fts=all	F119I	--	--	1																																		MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	1	1		possibly_damaging(0.716)	p.F119I	NM_002367	NP_002358		deleterious(0)	1	MAGB4_HUMAN	MAGEB4	HGNC	O15481	MAGB4_HUMAN					1	439	+			UPI000012F055	119			MAGE.		SNV	MAGEB4,missense_variant,p.Phe119Ile,ENST00000378982,NM_002367.3;MAGEB3,downstream_gene_variant,,ENST00000361644,NM_002365.4;MAGEB1,upstream_gene_variant,,ENST00000378981,NM_002363.4;MAGEB1,upstream_gene_variant,,ENST00000397550,NM_177415.2;MAGEB1,upstream_gene_variant,,ENST00000397548,NM_177404.2;	uc004dcb.2	c.355T>A	551/2237	2	2			c.355T>A						23	SNP	c.(355-357)TTC>ATC	18	18			ovary(1)	1	Broad	melanoma antigen family B, 4			30260607		0.443	ENSG00000120289	9007	g.chrX:30260607T>A										12.261801	KEEP	1	7	-1	20	31	1	7	-1	19.379786	20	31	0.140351	1	0	0	0	0	1	0	0	0	--	--		0	A			MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	213	GBM-28-2513-TP	p.F119I	T	GTTAGTGCAGTTCCTGCTGTA	NM_002367	NP_002358	30260607	O15481	MAGB4_HUMAN	0			1	439	+	A	A			Missense_Mutation	119			MAGE.			
MAGEB6	158809	broad.mit.edu	GRCh37	X	26212934	26212934	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0125-01	TCGA-06-0125-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379034.1:c.971T>A	p.Ile324Asn	p.I324N	ENST00000379034	NM_173523.2	324	aTc/aAc	0			1			A	I/N	uc004dbr.2	protein_coding	YES	CCDS14217.1			971/1224									ovary(3)	3	c.(970-972)ATC>AAC			Pfam_domain:PF01454,PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF67	melanoma antigen family B, 6				ENSP00000368320		2-Feb									COSM2149350	2-Feb	.		ENST00000379034	Transcript						ENSG00000176746	g.chrX:26212934T>A	23796			MODERATE		3.82	high	getma.org/?cm=msa&ty=f&p=MAGB6_HUMAN&rb=202&re=372&var=I324N	getma.org/pdb.php?prot=MAGB6_HUMAN&from=202&to=372&var=I324N	getma.org/?cm=var&var=hg19,X,26212934,T,A&fts=all	I324N	--	--	1																																		MAGEB6_uc010ngc.1_Missense_Mutation_p.I104N	1	1		possibly_damaging(0.825)	p.I324N	NM_173523	NP_775794		deleterious(0)	1	MAGB6_HUMAN	MAGEB6	HGNC	Q8N7X4	MAGB6_HUMAN					2	1120	+			UPI00001413F4	324			MAGE.		SNV	MAGEB6,missense_variant,p.Ile324Asn,ENST00000379034,NM_173523.2;	uc004dbr.2	c.971T>A	1120/1949	2	2			c.971T>A						23	SNP	c.(970-972)ATC>AAC	36	36			ovary(3)	3	Broad	melanoma antigen family B, 6			26212934		0.488	ENSG00000176746	9008	g.chrX:26212934T>A										469.577174	KEEP	95	95	-1	159	142	95	95	-1	471.42258	159	142	0.422969	1	0	0	0	0	1	0	0	0	--	--		0	A			MAGEB6_uc010ngc.1_Missense_Mutation_p.I104N	12	GBM-06-0125-TP	p.I324N	T	CTGCATTCAATCTATGGGGAT	NM_173523	NP_775794	26212934	Q8N7X4	MAGB6_HUMAN	0			2	1120	+	A	A			Missense_Mutation	324			MAGE.			
MAGEB6	158809	broad.mit.edu	GRCh37	X	26212711	26212711	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01	TCGA-06-2557-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379034.1:c.748G>A	p.Val250Ile	p.V250I	ENST00000379034	NM_173523.2	250	Gtt/Att	0			1			A	V/I	uc004dbr.2	protein_coding	YES	CCDS14217.1			748/1224									ovary(3)	3	c.(748-750)GTT>ATT			Pfam_domain:PF01454,PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF67	melanoma antigen family B, 6				ENSP00000368320		2-Feb	8.24E-05					0.000146			rs775370255,COSM2152567	2-Feb	.		ENST00000379034	Transcript						ENSG00000176746	g.chrX:26212711G>A	23796			MODERATE		0.135	neutral	getma.org/?cm=msa&ty=f&p=MAGB6_HUMAN&rb=202&re=372&var=V250I	getma.org/pdb.php?prot=MAGB6_HUMAN&from=202&to=372&var=V250I	getma.org/?cm=var&var=hg19,X,26212711,G,A&fts=all	V250I	--	--	1																																		MAGEB6_uc010ngc.1_Missense_Mutation_p.V30I	0,1	1		probably_damaging(0.984)	p.V250I	NM_173523	NP_775794		tolerated(0.27)	0,1	MAGB6_HUMAN	MAGEB6	HGNC	Q8N7X4	MAGB6_HUMAN					2	897	+			UPI00001413F4	250			MAGE.		SNV	MAGEB6,missense_variant,p.Val250Ile,ENST00000379034,NM_173523.2;	uc004dbr.2	c.748G>A	897/1949	2	2			c.748G>A						23	SNP	c.(748-750)GTT>ATT	48	48			ovary(3)	3	Broad	melanoma antigen family B, 6			26212711		0.517	ENSG00000176746	9008	g.chrX:26212711G>A										144.452156	KEEP	21	24	-1	9	6	21	24	-1	148.132853	9	6	0.767857	1	0	0	0	0	1	0	0	0	--	--		0	A			MAGEB6_uc010ngc.1_Missense_Mutation_p.V30I	81	GBM-06-2557-TP	p.V250I	G	GGCCTTTGGCGTTGAATTGAA	NM_173523	NP_775794	26212711	Q8N7X4	MAGB6_HUMAN	0			2	897	+	A	A			Missense_Mutation	250			MAGE.			
MAGEB6	0	broad.mit.edu	GRCh37	X	26212996	26212996	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01	TCGA-27-1838-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379034.1:c.1033C>T	p.Arg345Trp	p.R345W	ENST00000379034	NM_173523.2	345	Cgg/Tgg	0			1			T	R/W	uc004dbr.2	protein_coding	YES	CCDS14217.1			1033/1224									ovary(3)	3	c.(1033-1035)CGG>TGG			Pfam_domain:PF01454,PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF67	melanoma antigen family B, 6				ENSP00000368320		2-Feb									COSM612178	2-Feb	.		ENST00000379034	Transcript						ENSG00000176746	g.chrX:26212996C>T	23796			MODERATE		2.31	medium	getma.org/?cm=msa&ty=f&p=MAGB6_HUMAN&rb=202&re=372&var=R345W	getma.org/pdb.php?prot=MAGB6_HUMAN&from=202&to=372&var=R345W	getma.org/?cm=var&var=hg19,X,26212996,C,T&fts=all	R345W	--	--	1																																		MAGEB6_uc010ngc.1_Missense_Mutation_p.R125W	1	1		benign(0.001)	p.R345W	NM_173523	NP_775794		tolerated(0.06)	1	MAGB6_HUMAN	MAGEB6	HGNC	Q8N7X4	MAGB6_HUMAN					2	1182	+			UPI00001413F4	345			MAGE.		SNV	MAGEB6,missense_variant,p.Arg345Trp,ENST00000379034,NM_173523.2;	uc004dbr.2	c.1033C>T	1182/1949	1	1			c.1033C>T						23	SNP	c.(1033-1035)CGG>TGG	3	3			ovary(3)	3	Broad	melanoma antigen family B, 6			26212996		0.498	ENSG00000176746	9008	g.chrX:26212996C>T										8.538362	KEEP	12	25	-1	288	259	12	25	-1	68.074644	288	259	0.085044	1	0	0	0	0	1	0	0	0	--	--		0	T			MAGEB6_uc010ngc.1_Missense_Mutation_p.R125W	197	GBM-27-1838-TP	p.R345W	C	CGTGGTTTACCGGCAGGTGTG	NM_173523	NP_775794	26212996	Q8N7X4	MAGB6_HUMAN	0			2	1182	+	T	T			Missense_Mutation	345			MAGE.			
MAGEB6	0	broad.mit.edu	GRCh37	X	26212632	26212632	+	synonymous_variant	Silent	SNP	G	G	A	rs141448892		TCGA-28-2509-01	TCGA-28-2509-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379034.1:c.669G>A	p.Lys223=	p.K223=	ENST00000379034	NM_173523.2	223	aaG/aaA	0			1			A	K	uc004dbr.2	protein_coding	YES	CCDS14217.1			669/1224									ovary(3)	3	c.(667-669)AAG>AAA			Pfam_domain:PF01454,PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF67	melanoma antigen family B, 6				ENSP00000368320		2-Feb									COSM370627	2-Feb	.		ENST00000379034	Transcript						ENSG00000176746	g.chrX:26212632G>A	23796			LOW								--	--	1																																		MAGEB6_uc010ngc.1_Silent_p.K3K	1	1			p.K223K	NM_173523	NP_775794			1	MAGB6_HUMAN	MAGEB6	HGNC	Q8N7X4	MAGB6_HUMAN					2	818	+			UPI00001413F4	223			MAGE.		SNV	MAGEB6,synonymous_variant,p.=,ENST00000379034,NM_173523.2;	uc004dbr.2	c.669G>A	818/1949	2	2			c.669G>A						23	SNP	c.(667-669)AAG>AAA	21	21			ovary(3)	3	Broad	melanoma antigen family B, 6			26212632		0.463	ENSG00000176746	9008	g.chrX:26212632G>A										314.380989	KEEP	45	63	-1	33	40	45	63	-1	315.538028	33	40	0.591195	1	0	0	0	0	0	0	1	0	--	--		0	A			MAGEB6_uc010ngc.1_Silent_p.K3K	211	GBM-28-2509-TP	p.K223K	G	ACATGCTGAAGTGTGTCCGCA	NM_173523	NP_775794	26212632	Q8N7X4	MAGB6_HUMAN	0			2	818	+	A	A			Silent	223			MAGE.			
MAGEC1	0	broad.mit.edu	GRCh37	X	140995245	140995245	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0616-01	TCGA-12-0616-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285879.4:c.2055G>A	p.Gly685=	p.G685=	ENST00000285879	NM_005462.4	685	ggG/ggA	0			1			A	G	uc004fbt.2	protein_coding	YES	CCDS35417.1			2055/3429									ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	c.(2053-2055)GGG>GGA			hmmpanther:PTHR11736:SF17,hmmpanther:PTHR11736	melanoma antigen family C, 1				ENSP00000285879		4-Apr									COSM2153545	4-Apr	.		ENST00000285879	Transcript					protein binding	ENSG00000155495	g.chrX:140995245G>A	6812			LOW								--	--	1				HNSCC(15;0.026)																														MAGEC1_uc010nsl.1_Intron	1	1			p.G685G	NM_005462	NP_005453			1	MAGC1_HUMAN	MAGEC1	HGNC	O60732	MAGC1_HUMAN			A0PK03_HUMAN		4	2341	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000006F2FD	685					SNV	MAGEC1,synonymous_variant,p.=,ENST00000285879,NM_005462.4;MAGEC1,intron_variant,,ENST00000406005,;	uc004fbt.2	c.2055G>A	2341/4270	2	2			c.2055G>A						23	SNP	c.(2053-2055)GGG>GGA	21	21			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Broad	melanoma antigen family C, 1			140995245		0.577	ENSG00000155495	9009	g.chrX:140995245G>A			protein binding							270.633739	KEEP	37	55	-1	93	71	37	55	-1	274.64045	93	71	0.361345	1	0	0	0	0	0	0	1	0	--	--	HNSCC(15;0.026)	0	A			MAGEC1_uc010nsl.1_Intron	118	GBM-12-0616-TP	p.G685G	G	CTCCTGAGGGGGAGGATTCCC	NM_005462	NP_005453	140995245	O60732	MAGC1_HUMAN	0			4	2341	+	A	A	Acute lymphoblastic leukemia(192;6.56e-05)		Silent	685						
MAGEC1	0	broad.mit.edu	GRCh37	X	140994696	140994696	+	synonymous_variant	Silent	SNP	T	T	A			TCGA-14-1395-01	TCGA-14-1395-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285879.4:c.1506T>A	p.Thr502=	p.T502=	ENST00000285879	NM_005462.4	502	acT/acA	0			1			A	T	uc004fbt.2	protein_coding	YES	CCDS35417.1			1506/3429									ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	c.(1504-1506)ACT>ACA			hmmpanther:PTHR11736:SF17,hmmpanther:PTHR11736	melanoma antigen family C, 1				ENSP00000285879		4-Apr									COSM3406033	4-Apr	.		ENST00000285879	Transcript					protein binding	ENSG00000155495	g.chrX:140994696T>A	6812			LOW								--	--	1				HNSCC(15;0.026)																														MAGEC1_uc010nsl.1_Intron	1	1			p.T502T	NM_005462	NP_005453			1	MAGC1_HUMAN	MAGEC1	HGNC	O60732	MAGC1_HUMAN			A0PK03_HUMAN		4	1792	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000006F2FD	502					SNV	MAGEC1,synonymous_variant,p.=,ENST00000285879,NM_005462.4;MAGEC1,intron_variant,,ENST00000406005,;	uc004fbt.2	c.1506T>A	1792/4270	2	2			c.1506T>A						23	SNP	c.(1504-1506)ACT>ACA	36	36			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Broad	melanoma antigen family C, 1			140994696		0.498	ENSG00000155495	9009	g.chrX:140994696T>A			protein binding							394.003087	KEEP	61	78	-1	9	7	61	78	-1	415.023534	9	7	0.891304	1	0	0	0	0	0	0	1	0	--	--	HNSCC(15;0.026)	0	A			MAGEC1_uc010nsl.1_Intron	144	GBM-14-1395-TP	p.T502T	T	CTGAGTGTACTCAAAGTACTT	NM_005462	NP_005453	140994696	O60732	MAGC1_HUMAN	0			4	1792	+	A	A	Acute lymphoblastic leukemia(192;6.56e-05)		Silent	502						
MAGEC1	9947		GRCh37	X	140994261	140994261	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000285879.4:c.1071T>C	p.Ser357=	p.S357=	ENST00000285879	NM_005462.4	357	tcT/tcC	0																																																																																																																																																																																																																																												
MAGEC1	9947		GRCh37	X	140995944	140995944	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000285879.4:c.2754T>C	p.Phe918=	p.F918=	ENST00000285879	NM_005462.4	918	ttT/ttC	0																																																																																																																																																																																																																																												
MAGEC2	0	broad.mit.edu	GRCh37	X	141291741	141291741	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-12-0619-01	TCGA-12-0619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000247452.3:c.33C>A	p.Asn11Lys	p.N11K	ENST00000247452	NM_016249.3	11	aaC/aaA	0			1			T	N/K	uc004fbu.1	protein_coding	YES	CCDS14678.1			33/1122									breast(2)	2	c.(31-33)AAC>AAA			hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF29	melanoma antigen family C, 2				ENSP00000354660		3-Mar									COSM245547	3-Mar	.		ENST00000247452	Transcript				cytoplasm|nucleus		ENSG00000046774	g.chrX:141291741G>T	13574			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=MAGC2_HUMAN&rb=1&re=63&var=N11K	NA	getma.org/?cm=var&var=hg19,X,141291741,G,T&fts=all	N11K	--	--	1				HNSCC(46;0.14)																															1	1		possibly_damaging(0.832)	p.N11K	NM_016249	NP_057333		tolerated_low_confidence(0.13)	1	MAGC2_HUMAN	MAGEC2	HGNC	Q9UBF1	MAGC2_HUMAN					3	381	-	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000012F059	11					SNV	MAGEC2,missense_variant,p.Asn11Lys,ENST00000247452,NM_016249.3;	uc004fbu.1	c.33C>A	381/1991	1	1			c.33C>A						23	SNP	c.(31-33)AAC>AAA	15	15			breast(2)	2	Broad	melanoma antigen family C, 2			141291741		0.537	ENSG00000046774	9010	g.chrX:141291741G>T		cytoplasm|nucleus								592.091304	KEEP	82	103	0.443243243	20	21	82	103	0.443243243	611.150499	20	21	0.821429	1	0	0	0	0	1	0	0	0	--	--	HNSCC(46;0.14)	0	T				120	GBM-12-0619-TP	p.N11K	G	CGTTGTCAACGTTGCGGAATG	NM_016249	NP_057333	141291741	Q9UBF1	MAGC2_HUMAN	0			3	381	-	T	T	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	11						
MAGEC2	0	broad.mit.edu	GRCh37	X	141291061	141291061	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-12-3649-01	TCGA-12-3649-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000247452.3:c.713T>A	p.Phe238Tyr	p.F238Y	ENST00000247452	NM_016249.3	238	tTc/tAc	0			1			T	F/Y	uc004fbu.1	protein_coding	YES	CCDS14678.1			713/1122									breast(2)	2	c.(712-714)TTC>TAC			Pfam_domain:PF01454,PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF29	melanoma antigen family C, 2				ENSP00000354660		3-Mar									COSM3406035	3-Mar	.		ENST00000247452	Transcript				cytoplasm|nucleus		ENSG00000046774	g.chrX:141291061A>T	13574			MODERATE		2.535	medium	getma.org/?cm=msa&ty=f&p=MAGC2_HUMAN&rb=148&re=314&var=F238Y	getma.org/pdb.php?prot=MAGC2_HUMAN&from=148&to=314&var=F238Y	getma.org/?cm=var&var=hg19,X,141291061,A,T&fts=all	F238Y	--	--	1				HNSCC(46;0.14)																															1	1		probably_damaging(0.993)	p.F238Y	NM_016249	NP_057333		deleterious(0)	1	MAGC2_HUMAN	MAGEC2	HGNC	Q9UBF1	MAGC2_HUMAN					3	1061	-	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000012F059	238			MAGE.		SNV	MAGEC2,missense_variant,p.Phe238Tyr,ENST00000247452,NM_016249.3;	uc004fbu.1	c.713T>A	1061/1991	1	1			c.713T>A						23	SNP	c.(712-714)TTC>TAC	13	13			breast(2)	2	Broad	melanoma antigen family C, 2			141291061		0.512	ENSG00000046774	9010	g.chrX:141291061A>T		cytoplasm|nucleus								320.572363	KEEP	58	49	-1	21	23	58	49	-1	326.183955	21	23	0.71223	1	0	0	0	0	1	0	0	0	--	--	HNSCC(46;0.14)	0	T				125	GBM-12-3649-TP	p.F238Y	A	GCCCTTTATGAAGATCACACT	NM_016249	NP_057333	141291061	Q9UBF1	MAGC2_HUMAN	0			3	1061	-	T	T	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	238			MAGE.			
MAGEC2	0	broad.mit.edu	GRCh37	X	141291256	141291256	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-14-0786-01	TCGA-14-0786-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000247452.3:c.518A>C	p.Lys173Thr	p.K173T	ENST00000247452	NM_016249.3	173	aAg/aCg	0			1			G	K/T	uc004fbu.1	protein_coding	YES	CCDS14678.1			518/1122									breast(2)	2	c.(517-519)AAG>ACG			Pfam_domain:PF01454,PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF29	melanoma antigen family C, 2				ENSP00000354660		3-Mar									COSM3406036	3-Mar	.		ENST00000247452	Transcript				cytoplasm|nucleus		ENSG00000046774	g.chrX:141291256T>G	13574			MODERATE		1.09	low	getma.org/?cm=msa&ty=f&p=MAGC2_HUMAN&rb=148&re=314&var=K173T	getma.org/pdb.php?prot=MAGC2_HUMAN&from=148&to=314&var=K173T	getma.org/?cm=var&var=hg19,X,141291256,T,G&fts=all	K173T	--	--	1				HNSCC(46;0.14)																															1	1		benign(0.09)	p.K173T	NM_016249	NP_057333		deleterious(0)	1	MAGC2_HUMAN	MAGEC2	HGNC	Q9UBF1	MAGC2_HUMAN					3	866	-	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000012F059	173			MAGE.		SNV	MAGEC2,missense_variant,p.Lys173Thr,ENST00000247452,NM_016249.3;	uc004fbu.1	c.518A>C	866/1991	3	3			c.518A>C						23	SNP	c.(517-519)AAG>ACG	54	54			breast(2)	2	Broad	melanoma antigen family C, 2			141291256		0.478	ENSG00000046774	9010	g.chrX:141291256T>G		cytoplasm|nucleus								581.642489	KEEP	109	116	-1	159	204	109	116	-1	586.933977	159	204	0.391813	1	0	0	0	0	1	0	0	0	--	--	HNSCC(46;0.14)	0	G				134	GBM-14-0786-TP	p.K173T	T	ATCTTTGTACTTGATGACAAT	NM_016249	NP_057333	141291256	Q9UBF1	MAGC2_HUMAN	0			3	866	-	G	G	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	173			MAGE.			
MAGEC2	0	broad.mit.edu	GRCh37	X	141291591	141291591	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-1835-01	TCGA-27-1835-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000247452.3:c.183G>A	p.Leu61=	p.L61=	ENST00000247452	NM_016249.3	61	ctG/ctA	0			1			T	L	uc004fbu.1	protein_coding	YES	CCDS14678.1			183/1122									breast(2)	2	c.(181-183)CTG>CTA			hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF29	melanoma antigen family C, 2				ENSP00000354660		3-Mar									COSM2157237	3-Mar	.		ENST00000247452	Transcript				cytoplasm|nucleus		ENSG00000046774	g.chrX:141291591C>T	13574			LOW								--	--	1				HNSCC(46;0.14)																															1	1			p.L61L	NM_016249	NP_057333			1	MAGC2_HUMAN	MAGEC2	HGNC	Q9UBF1	MAGC2_HUMAN					3	531	-	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000012F059	61					SNV	MAGEC2,synonymous_variant,p.=,ENST00000247452,NM_016249.3;	uc004fbu.1	c.183G>A	531/1991	2	2			c.183G>A						23	SNP	c.(181-183)CTG>CTA	33	33			breast(2)	2	Broad	melanoma antigen family C, 2			141291591		0.443	ENSG00000046774	9010	g.chrX:141291591C>T		cytoplasm|nucleus								224.560015	KEEP	38	38	-1	39	46	38	38	-1	224.674043	39	46	0.470968	1	0	0	0	0	0	0	1	0	--	--	HNSCC(46;0.14)	0	T				194	GBM-27-1835-TP	p.L61L	C	CACCAAGAATCAGAGAAGAGG	NM_016249	NP_057333	141291591	Q9UBF1	MAGC2_HUMAN	0			3	531	-	T	T	Acute lymphoblastic leukemia(192;6.56e-05)		Silent	61						
MAGEC2	51438		GRCh37	X	141290669	141290669	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000247452.3:c.1105G>A	p.Val369Ile	p.V369I	ENST00000247452	NM_016249.3	369	Gtc/Atc	0																																																																																																																																																																																																																																												
MAGEC3	139081	broad.mit.edu	GRCh37	X	140966989	140966989	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0743-01	TCGA-06-0743-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298296.1:c.287G>C	p.Gly96Ala	p.G96A	ENST00000298296	NM_138702.1	96	gGt/gCt	0			1			C	G/A	uc011mwp.1	protein_coding	YES	CCDS14676.1			287/1932									skin(2)|central_nervous_system(1)	3	c.(286-288)GGT>GCT				melanoma antigen family C, 3 isoform 1				ENSP00000298296		8-Mar									COSM3406030	8-Mar	.		ENST00000298296	Transcript						ENSG00000165509	g.chrX:140966989G>C	23798			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=MAGC3_HUMAN&rb=1&re=190&var=G96A	NA	getma.org/?cm=var&var=hg19,X,140966989,G,C&fts=all	G96A	--	--	1																																			1	1		benign(0)	p.G96A	NM_138702	NP_619647		deleterious_low_confidence(0.01)	1	MAGC3_HUMAN	MAGEC3	HGNC	Q8TD91	MAGC3_HUMAN					3	287	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000006E09B	96					SNV	MAGEC3,missense_variant,p.Gly96Ala,ENST00000298296,NM_138702.1;MAGEC3,upstream_gene_variant,,ENST00000536088,;MAGEC3,upstream_gene_variant,,ENST00000443323,;MAGEC3,upstream_gene_variant,,ENST00000448920,;	uc011mwp.1	c.287G>C	287/1932	4	4			c.287G>C						23	SNP	c.(286-288)GGT>GCT	48	48			skin(2)|central_nervous_system(1)	3	Broad	melanoma antigen family C, 3 isoform 1			140966989		0.582	ENSG00000165509	9011	g.chrX:140966989G>C										6.110864	KEEP	0	4	-1	10	6	0	4	-1	8.012328	10	6	0.166667	1	0	0	0	0	1	0	0	0	--	--		0	C				65	GBM-06-0743-TP	p.G96A	G	GGGTCCCCAGGTTTACAACTT	NM_138702	NP_619647	140966989	Q8TD91	MAGC3_HUMAN	0			3	287	+	C	C	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	96						
MAGEC3	0	broad.mit.edu	GRCh37	X	140985023	140985023	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-19-2631-01	TCGA-19-2631-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298296.1:c.1479T>C	p.Tyr493=	p.Y493=	ENST00000298296	NM_138702.1	493	taT/taC	0			1			C	Y	uc011mwp.1	protein_coding	YES	CCDS14676.1			1479/1932									skin(2)|central_nervous_system(1)	3	c.(1477-1479)TAT>TAC			Pfam_domain:PF01454,PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF47	melanoma antigen family C, 3 isoform 1				ENSP00000298296		8-Jul									COSM2156443,COSM2156444	8-Jul	.		ENST00000298296	Transcript						ENSG00000165509	g.chrX:140985023T>C	23798			LOW								--	--	1																																		MAGEC3_uc004fbs.2_Silent_p.Y195Y|MAGEC3_uc010nsj.2_Silent_p.Y195Y	1,1	1			p.Y493Y	NM_138702	NP_619647			1,1	MAGC3_HUMAN	MAGEC3	HGNC	Q8TD91	MAGC3_HUMAN					7	1479	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000006E09B	493			MAGE 2.		SNV	MAGEC3,synonymous_variant,p.=,ENST00000298296,NM_138702.1;MAGEC3,synonymous_variant,p.=,ENST00000544766,NM_177456.2;MAGEC3,synonymous_variant,p.=,ENST00000536088,;MAGEC3,synonymous_variant,p.=,ENST00000409007,;MAGEC3,synonymous_variant,p.=,ENST00000443323,;MAGEC3,downstream_gene_variant,,ENST00000448920,;MAGEC3,downstream_gene_variant,,ENST00000483584,;	uc011mwp.1	c.1479T>C	1479/1932	3	3			c.1479T>C						23	SNP	c.(1477-1479)TAT>TAC	50	50			skin(2)|central_nervous_system(1)	3	Broad	melanoma antigen family C, 3 isoform 1			140985023		0.438	ENSG00000165509	9011	g.chrX:140985023T>C										841.329005	KEEP	118	118	-1	83	105	118	118	-1	842.449405	83	105	0.555825	1	0	0	0	0	0	0	1	0	--	--		0	C			MAGEC3_uc004fbs.2_Silent_p.Y195Y|MAGEC3_uc010nsj.2_Silent_p.Y195Y	167	GBM-19-2631-TP	p.Y493Y	T	ATAAGGACTATTTTCCCATGA	NM_138702	NP_619647	140985023	Q8TD91	MAGC3_HUMAN	0			7	1479	+	C	C	Acute lymphoblastic leukemia(192;6.56e-05)		Silent	493			MAGE 2.			
MAGEC3	0	broad.mit.edu	GRCh37	X	140967026	140967026	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-6450-01	TCGA-28-6450-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298296.1:c.324G>A	p.Pro108=	p.P108=	ENST00000298296	NM_138702.1	108	ccG/ccA	0	A:0.0003	A:0.0008	1	A:0		A	P	uc011mwp.1	protein_coding	YES	CCDS14676.1			324/1932									skin(2)|central_nervous_system(1)	3	c.(322-324)CCG>CCA				melanoma antigen family C, 3 isoform 1		A:0	A:0	ENSP00000298296	A:0	8-Mar	3.30E-05	0.000477							rs182076629,COSM3406031	8-Mar	common_variant		ENST00000298296	Transcript		A:0.0003				ENSG00000165509	g.chrX:140967026G>A	23798			LOW								--	--	1																																			0,1	1			p.P108P	NM_138702	NP_619647	A:0		0,1	MAGC3_HUMAN	MAGEC3	HGNC	Q8TD91	MAGC3_HUMAN					3	324	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000006E09B	108					SNV	MAGEC3,synonymous_variant,p.=,ENST00000298296,NM_138702.1;MAGEC3,upstream_gene_variant,,ENST00000536088,;MAGEC3,upstream_gene_variant,,ENST00000443323,;MAGEC3,upstream_gene_variant,,ENST00000448920,;	uc011mwp.1	c.324G>A	324/1932	2	2			c.324G>A						23	SNP	c.(322-324)CCG>CCA	29	29			skin(2)|central_nervous_system(1)	3	Broad	melanoma antigen family C, 3 isoform 1			140967026		0.562	ENSG00000165509	9011	g.chrX:140967026G>A										20.553827	KEEP	4	2	-1	0	2	4	2	-1	21.008328	0	2	0.75	1	0	0	0	0	0	0	1	0	--	--		0	A				227	GBM-28-6450-TP	p.P108P	G	GGAGTCAGCCGGAGGGGAAGT	NM_138702	NP_619647	140967026	Q8TD91	MAGC3_HUMAN	0			3	324	+	A	A	Acute lymphoblastic leukemia(192;6.56e-05)		Silent	108						
MAGEC3	139081		GRCh37	X	140983301	140983301	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000298296.1:c.1079G>A	p.Arg360His	p.R360H	ENST00000298296	NM_138702.1	360	cGc/cAc	0																																																																																																																																																																																																																																												
MAGED1	0	broad.mit.edu	GRCh37	X	51640084	51640084	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-28-2513-01	TCGA-28-2513-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326587.7:c.1333T>A	p.Ser445Thr	p.S445T	ENST00000326587	NM_006986.3	445	Tcg/Acg	0			1			A	S/T	uc004dpm.2	protein_coding		CCDS14337.1			1333/2337									ovary(3)	3	c.(1333-1335)TCG>ACG			hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF28,Low_complexity_(Seg):seg	melanoma antigen family D, 1 isoform b				ENSP00000325333		13-Apr									COSM3406461	13-Apr	.		ENST00000326587	Transcript			apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	ENSG00000179222	g.chrX:51640084T>A	6813			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=MAGD1_HUMAN&rb=1&re=451&var=S445T	NA	getma.org/?cm=var&var=hg19,X,51640084,T,A&fts=all	S445T	--	--	1				Multiple Myeloma(10;0.10)																														MAGED1_uc004dpn.2_Missense_Mutation_p.S501T|MAGED1_uc004dpo.2_Missense_Mutation_p.S445T	1			unknown(0)	p.S445T	NM_001005332	NP_001005332		deleterious_low_confidence(0.03)	1	MAGD1_HUMAN	MAGED1	HGNC	Q9Y5V3	MAGD1_HUMAN					4	1428	+	Ovarian(276;0.236)		UPI000006CD3E	445			Pro-rich.		SNV	MAGED1,missense_variant,p.Ser501Thr,ENST00000375695,NM_001005333.1;MAGED1,missense_variant,p.Ser445Thr,ENST00000375722,;MAGED1,missense_variant,p.Ser445Thr,ENST00000326587,NM_006986.3;MAGED1,missense_variant,p.Ser445Thr,ENST00000375772,NM_001005332.1;MAGED1,non_coding_transcript_exon_variant,,ENST00000494718,;MAGED1,non_coding_transcript_exon_variant,,ENST00000485420,;MAGED1,upstream_gene_variant,,ENST00000473931,;MAGED1,downstream_gene_variant,,ENST00000470461,;MAGED1,downstream_gene_variant,,ENST00000482188,;MAGED1,downstream_gene_variant,,ENST00000482599,;	uc004dpm.2	c.1333T>A	1523/2747	2	2			c.1333T>A						23	SNP	c.(1333-1335)TCG>ACG	17	17			ovary(3)	3	Broad	melanoma antigen family D, 1 isoform b			51640084		0.602	ENSG00000179222	9012	g.chrX:51640084T>A	apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding							2.169967	KEEP	1	3	-1	18	22	1	3	-1	8.819335	18	22	0.097561	1	0	0	0	0	1	0	0	0	--	--	Multiple Myeloma(10;0.10)	0	A			MAGED1_uc004dpn.2_Missense_Mutation_p.S501T|MAGED1_uc004dpo.2_Missense_Mutation_p.S445T	213	GBM-28-2513-TP	p.S445T	T	CCTGCGCCCCTCGCCTAACCT	NM_001005332	NP_001005332	51640084	Q9Y5V3	MAGD1_HUMAN	0			4	1428	+	A	A	Ovarian(276;0.236)		Missense_Mutation	445			Pro-rich.			
MAGED2	10916	broad.mit.edu	GRCh37	X	54841851	54841851	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6388-01	TCGA-06-6388-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375068.1:c.1557C>T	p.Asp519=	p.D519=	ENST00000375068		519	gaC/gaT	0			1			T	D	uc004dtk.1	protein_coding		CCDS14362.1			1557/1821									ovary(2)|breast(1)	3	c.(1555-1557)GAC>GAT			hmmpanther:PTHR11736:SF11,hmmpanther:PTHR11736	melanoma antigen family D, 2				ENSP00000218439		12-Dec	0.000206							0.00175	rs775755120,COSM3406494	12-Dec	common_variant		ENST00000218439	Transcript						ENSG00000102316	g.chrX:54841851C>T	16353			LOW								--	--	1																																		MAGED2_uc004dtl.1_Silent_p.D519D|MAGED2_uc004dtm.1_Silent_p.D434D|MAGED2_uc010nkc.1_Intron|MAGED2_uc004dtn.1_Silent_p.D519D|MAGED2_uc004dto.1_Silent_p.D493D	0,1				p.D519D	NM_177433	NP_803182			0,1	MAGD2_HUMAN	MAGED2	HGNC	Q9UNF1	MAGD2_HUMAN					12	1651	+			UPI000000123B	519					SNV	MAGED2,synonymous_variant,p.=,ENST00000375068,;MAGED2,synonymous_variant,p.=,ENST00000347546,NM_177433.1;MAGED2,synonymous_variant,p.=,ENST00000375058,NM_014599.4;MAGED2,synonymous_variant,p.=,ENST00000396224,NM_201222.1;MAGED2,synonymous_variant,p.=,ENST00000218439,;MAGED2,synonymous_variant,p.=,ENST00000375053,;MAGED2,synonymous_variant,p.=,ENST00000375060,;MAGED2,synonymous_variant,p.=,ENST00000375062,;SNORA11,downstream_gene_variant,,ENST00000408789,NR_002953.1;MAGED2,downstream_gene_variant,,ENST00000497484,;MAGED2,downstream_gene_variant,,ENST00000463787,;MAGED2,downstream_gene_variant,,ENST00000487463,;MAGED2,downstream_gene_variant,,ENST00000487482,;	uc004dtk.1	c.1557C>T	1656/1932	2	2			c.1557C>T						23	SNP	c.(1555-1557)GAC>GAT	43	43			ovary(2)|breast(1)	3	Broad	melanoma antigen family D, 2			54841851		0.488	ENSG00000102316	9013	g.chrX:54841851C>T										21.394966	KEEP	3	5	-1	6	5	3	5	-1	21.498585	6	5	0.421053	1	0	0	0	0	0	0	1	0	--	--		0	T			MAGED2_uc004dtl.1_Silent_p.D519D|MAGED2_uc004dtm.1_Silent_p.D434D|MAGED2_uc010nkc.1_Intron|MAGED2_uc004dtn.1_Silent_p.D519D|MAGED2_uc004dto.1_Silent_p.D493D	104	GBM-06-6388-TP	p.D519D	C	GCAACTGGGACGAAGCTGATA	NM_177433	NP_803182	54841851	Q9UNF1	MAGD2_HUMAN	0			12	1651	+	T	T			Silent	519						
MAGEE1	0	broad.mit.edu	GRCh37	X	75649443	75649443	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-28-5207-01	TCGA-28-5207-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361470.2:c.1120G>C	p.Asp374His	p.D374H	ENST00000361470	NM_020932.2	374	Gat/Cat	0			1			C	D/H	uc004ecm.1	protein_coding	YES	CCDS14433.1			1120/2874									breast(3)|ovary(1)|pancreas(1)|skin(1)	6	c.(1120-1122)GAT>CAT			hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF9	melanoma antigen family E, 1				ENSP00000354912		1-Jan									COSM3406598,COSM3406597	1-Jan	.		ENST00000361470	Transcript				dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		ENSG00000198934	g.chrX:75649443G>C	24934			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=MAGE1_HUMAN&rb=61&re=437&var=D374H	NA	getma.org/?cm=var&var=hg19,X,75649443,G,C&fts=all	D374H	--	--	1																																			1,1	1		benign(0.094)	p.D374H	NM_020932	NP_065983		deleterious_low_confidence(0)	1,1	MAGE1_HUMAN	MAGEE1	HGNC	Q9HCI5	MAGE1_HUMAN			Q5JXC7_HUMAN		1	1327	+			UPI000006F138	374			Pro-rich.		SNV	MAGEE1,missense_variant,p.Asp374His,ENST00000361470,NM_020932.2;	uc004ecm.1	c.1120G>C	1398/3699	3	3			c.1120G>C						23	SNP	c.(1120-1122)GAT>CAT	5	5			breast(3)|ovary(1)|pancreas(1)|skin(1)	6	Broad	melanoma antigen family E, 1			75649443		0.677	ENSG00000198934	9014	g.chrX:75649443G>C		dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane								3.23473	KEEP	2	0	-1	9	13	2	0	-1	6.430857	9	13	0.1	1	0	0	0	0	1	0	0	0	--	--		0	C				216	GBM-28-5207-TP	p.D374H	G	CACCGCCTCTGATGGATCGGA	NM_020932	NP_065983	75649443	Q9HCI5	MAGE1_HUMAN	0			1	1327	+	C	C			Missense_Mutation	374			Pro-rich.			
MAGI1	9223	broad.mit.edu	GRCh37	3	65376868	65376868	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0241-01	TCGA-06-0241-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000402939.2:c.2365C>A	p.Pro789Thr	p.P789T	ENST00000402939	NM_001033057.1	789	Cca/Aca	0			1			T	P/T	uc003dmn.2	protein_coding	YES	CCDS33780.1			2365/4389									lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6	c.(2365-2367)CCA>ACA			hmmpanther:PTHR10316,hmmpanther:PTHR10316:SF12	membrane associated guanylate kinase, WW and PDZ				ENSP00000385450		14/23	6.59E-05			0.000231		4.50E-05		0.000182	rs770193154,COSM287197,COSM2151156,COSM287198	14/23	.		ENST00000402939	Transcript			cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	ENSG00000151276	g.chr3:65376868G>T	946			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=MAGI1_HUMAN&rb=721&re=840&var=P789T	NA	getma.org/?cm=var&var=hg19,3,65376868,G,T&fts=all	P789T	--	--	1																																		MAGI1_uc003dmm.2_Missense_Mutation_p.P789T|MAGI1_uc003dmo.2_Missense_Mutation_p.P789T|MAGI1_uc003dmp.2_Missense_Mutation_p.P789T|MAGI1_uc010hnx.1_Missense_Mutation_p.P72T	0,1,1,1	1		probably_damaging(0.996)	p.P789T	NM_001033057	NP_001028229		deleterious(0.01)	0,1,1,1	MAGI1_HUMAN	MAGI1	HGNC	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)			14	2891	-		Lung NSC(201;0.0016)	UPI0000457132	789					SNV	MAGI1,missense_variant,p.Pro789Thr,ENST00000330909,NM_015520.1;MAGI1,missense_variant,p.Pro789Thr,ENST00000483466,NM_004742.2;MAGI1,missense_variant,p.Pro789Thr,ENST00000402939,NM_001033057.1;MAGI1,missense_variant,p.Pro664Thr,ENST00000463103,;MAGI1,missense_variant,p.Pro670Thr,ENST00000460329,;MAGI1,missense_variant,p.Pro789Thr,ENST00000497477,;MAGI1,missense_variant,p.Pro575Thr,ENST00000472257,;MAGI1,non_coding_transcript_exon_variant,,ENST00000468159,;	uc003dmn.2	c.2365C>A	2365/4389	1	1			c.2365C>A						3	SNP	c.(2365-2367)CCA>ACA	3	3			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6	Broad	membrane associated guanylate kinase, WW and PDZ			65376868		0.567	ENSG00000151276	9019	g.chr3:65376868G>T	cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding							183.040597	KEEP	35	31	0.53030303	47	59	35	31	0.53030303	184.415128	47	59	0.398693	1	0	0	0	0	1	0	0	0	--	--		0	T			MAGI1_uc003dmm.2_Missense_Mutation_p.P789T|MAGI1_uc003dmo.2_Missense_Mutation_p.P789T|MAGI1_uc003dmp.2_Missense_Mutation_p.P789T|MAGI1_uc010hnx.1_Missense_Mutation_p.P72T	57	GBM-06-0241-TP	p.P789T	G	AAAGGATCTGGTTTTTTCTGG	NM_001033057	NP_001028229	65376868	Q96QZ7	MAGI1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	14	2891	-	T	T		Lung NSC(201;0.0016)	Missense_Mutation	789						
MAGI1	9223	broad.mit.edu	GRCh37	3	65342645	65342645	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01	TCGA-06-0646-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000402939.2:c.3797C>T	p.Pro1266Leu	p.P1266L	ENST00000402939	NM_001033057.1	1266	cCg/cTg	0			1			A	P/L	uc003dmn.2	protein_coding	YES	CCDS33780.1			3797/4389									lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6	c.(3796-3798)CCG>CTG				membrane associated guanylate kinase, WW and PDZ				ENSP00000385450		23/23									COSM1048071	23/23	.		ENST00000402939	Transcript			cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	ENSG00000151276	g.chr3:65342645G>A	946			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=MAGI1_HUMAN&rb=1232&re=1431&var=P1295L	NA	getma.org/?cm=var&var=hg19,3,65342645,G,A&fts=all	P1295L	1.825	low	1																																		MAGI1_uc003dmm.2_3'UTR	1	1		benign(0.006)	p.P1266L	NM_001033057	NP_001028229		tolerated(0.35)	1	MAGI1_HUMAN	MAGI1	HGNC	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)			23	4323	-		Lung NSC(201;0.0016)	UPI0000457132	1295					SNV	MAGI1,missense_variant,p.Pro1266Leu,ENST00000402939,NM_001033057.1;MAGI1,3_prime_UTR_variant,,ENST00000330909,NM_015520.1;MAGI1,downstream_gene_variant,,ENST00000483466,NM_004742.2;MAGI1,downstream_gene_variant,,ENST00000463103,;MAGI1,downstream_gene_variant,,ENST00000460329,;MAGI1,downstream_gene_variant,,ENST00000497477,;MAGI1,downstream_gene_variant,,ENST00000472257,;RP11-88H12.2,downstream_gene_variant,,ENST00000602316,;	uc003dmn.2	c.3797C>T	3797/4389	2	2			c.3797C>T						3	SNP	c.(3796-3798)CCG>CTG	34	34			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6	Broad	membrane associated guanylate kinase, WW and PDZ			65342645		0.592	ENSG00000151276	9019	g.chr3:65342645G>A	cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding							195.802157	KEEP	41	33	-1	67	60	41	33	-1	199.088008	67	60	0.355556	1	0	0	0	0	1	0	0	0	1.825	low		0	A			MAGI1_uc003dmm.2_3'UTR	60	GBM-06-0646-TP	p.P1266L	G	GCTGCCTTTCGGATCCCTTGC	NM_001033057	NP_001028229	65342645	Q96QZ7	MAGI1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	23	4323	-	A	A		Lung NSC(201;0.0016)	Missense_Mutation	1295						
MAGI2	9863	broad.mit.edu	GRCh37	7	77973153	77973153	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0241-01	TCGA-06-0241-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354212.4:c.1350G>A	p.Leu450=	p.L450=	ENST00000354212	NM_012301.3	450	ctG/ctA	0			1			T	L	uc003ugx.2	protein_coding	YES	CCDS5594.1			1350/4368									ovary(5)|lung(4)|breast(1)|skin(1)	11	c.(1348-1350)CTG>CTA			PROSITE_profiles:PS50106,hmmpanther:PTHR10316:SF27,hmmpanther:PTHR10316,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	membrane associated guanylate kinase, WW and PDZ				ENSP00000346151		22-Sep									COSM2151135,COSM3412315	22-Sep	.		ENST00000354212	Transcript				cell junction|synapse|synaptosome	phosphatase binding	ENSG00000187391	g.chr7:77973153C>T	18957			LOW								--	--	1																																		MAGI2_uc003ugy.2_Silent_p.L450L|MAGI2_uc010ldx.1_Silent_p.L59L|MAGI2_uc010ldy.1_Silent_p.L59L|MAGI2_uc011kgr.1_Silent_p.L282L|MAGI2_uc011kgs.1_Silent_p.L287L	1,1	1			p.L450L	NM_012301	NP_036433			1,1	MAGI2_HUMAN	MAGI2	HGNC	Q86UL8	MAGI2_HUMAN					9	1604	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	UPI00001615D2	450			PDZ 2.		SNV	MAGI2,synonymous_variant,p.=,ENST00000354212,NM_012301.3;MAGI2,synonymous_variant,p.=,ENST00000419488,;MAGI2,synonymous_variant,p.=,ENST00000522391,;MAGI2,synonymous_variant,p.=,ENST00000536571,;MAGI2,synonymous_variant,p.=,ENST00000535697,;RPL13AP17,upstream_gene_variant,,ENST00000450028,;MAGI2,non_coding_transcript_exon_variant,,ENST00000519748,;MAGI2,non_coding_transcript_exon_variant,,ENST00000520379,;RPL13AP17,upstream_gene_variant,,ENST00000414782,;RPL13AP17,upstream_gene_variant,,ENST00000428436,;	uc003ugx.2	c.1350G>A	1604/6861	1	1			c.1350G>A						7	SNP	c.(1348-1350)CTG>CTA	4	4			ovary(5)|lung(4)|breast(1)|skin(1)	11	Broad	membrane associated guanylate kinase, WW and PDZ			77973153		0.453	ENSG00000187391	9020	g.chr7:77973153C>T		cell junction|synapse|synaptosome	phosphatase binding							120.327518	KEEP	25	32	-1	53	74	25	32	-1	125.90678	53	74	0.301887	1	0	0	0	0	0	0	1	0	--	--		0	T			MAGI2_uc003ugy.2_Silent_p.L450L|MAGI2_uc010ldx.1_Silent_p.L59L|MAGI2_uc010ldy.1_Silent_p.L59L|MAGI2_uc011kgr.1_Silent_p.L282L|MAGI2_uc011kgs.1_Silent_p.L287L	57	GBM-06-0241-TP	p.L450L	C	TTTTCACCTGCAGAAACTCAT	NM_012301	NP_036433	77973153	Q86UL8	MAGI2_HUMAN	0			9	1604	-	T	T		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	Silent	450			PDZ 2.			
MAGI2	0	broad.mit.edu	GRCh37	7	77756518	77756518	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-28-2499-01	TCGA-28-2499-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354212.4:c.3419C>A	p.Pro1140His	p.P1140H	ENST00000354212	NM_012301.3	1140	cCc/cAc	0			1			T	P/H	uc003ugx.2	protein_coding	YES	CCDS5594.1			3419/4368									ovary(5)|lung(4)|breast(1)|skin(1)	11	c.(3418-3420)CCC>CAC			hmmpanther:PTHR10316:SF27,hmmpanther:PTHR10316,Gene3D:2.30.42.10,Superfamily_domains:SSF50156	membrane associated guanylate kinase, WW and PDZ				ENSP00000346151		19/22									COSM3412313	19/22	.		ENST00000354212	Transcript				cell junction|synapse|synaptosome	phosphatase binding	ENSG00000187391	g.chr7:77756518G>T	18957			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=MAGI2_HUMAN&rb=1008&re=1146&var=P1140H	NA	getma.org/?cm=var&var=hg19,7,77756518,G,T&fts=all	P1140H	--	--	1																																		MAGI2_uc003ugy.2_Missense_Mutation_p.P1126H|MAGI2_uc010ldx.1_Missense_Mutation_p.P733H	1	1		possibly_damaging(0.847)	p.P1140H	NM_012301	NP_036433		tolerated(0.05)	1	MAGI2_HUMAN	MAGI2	HGNC	Q86UL8	MAGI2_HUMAN					19	3673	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	UPI00001615D2	1140					SNV	MAGI2,missense_variant,p.Pro1140His,ENST00000354212,NM_012301.3;MAGI2,missense_variant,p.Pro1126His,ENST00000419488,;MAGI2,missense_variant,p.Pro1140His,ENST00000522391,;MAGI2,non_coding_transcript_exon_variant,,ENST00000519748,;	uc003ugx.2	c.3419C>A	3673/6861	1	1			c.3419C>A						7	SNP	c.(3418-3420)CCC>CAC	10	10			ovary(5)|lung(4)|breast(1)|skin(1)	11	Broad	membrane associated guanylate kinase, WW and PDZ			77756518		0.597	ENSG00000187391	9020	g.chr7:77756518G>T		cell junction|synapse|synaptosome	phosphatase binding							41.287879	KEEP	20	22	0.476190476	160	153	20	22	0.476190476	83.133102	160	153	0.126623	1	0	0	0	0	1	0	0	0	--	--		0	T			MAGI2_uc003ugy.2_Missense_Mutation_p.P1126H|MAGI2_uc010ldx.1_Missense_Mutation_p.P733H	208	GBM-28-2499-TP	p.P1140H	G	AGGTACCTGGGGTTGTCTGTA	NM_012301	NP_036433	77756518	Q86UL8	MAGI2_HUMAN	0			19	3673	-	T	T		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	Missense_Mutation	1140						
MAGI2	0	broad.mit.edu	GRCh37	7	77807399	77807399	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01	TCGA-32-1970-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354212.4:c.2332G>A	p.Asp778Asn	p.D778N	ENST00000354212	NM_012301.3	778	Gat/Aat	0			1			T	D/N	uc003ugx.2	protein_coding	YES	CCDS5594.1			2332/4368									ovary(5)|lung(4)|breast(1)|skin(1)	11	c.(2332-2334)GAT>AAT			PROSITE_profiles:PS50106,hmmpanther:PTHR10316:SF27,hmmpanther:PTHR10316,Gene3D:2.30.42.10,Superfamily_domains:SSF50156	membrane associated guanylate kinase, WW and PDZ				ENSP00000346151		14/22									COSM3412314	14/22	.		ENST00000354212	Transcript				cell junction|synapse|synaptosome	phosphatase binding	ENSG00000187391	g.chr7:77807399C>T	18957			MODERATE		0.16	neutral	getma.org/?cm=msa&ty=f&p=MAGI2_HUMAN&rb=777&re=859&var=D778N	getma.org/pdb.php?prot=MAGI2_HUMAN&from=777&to=859&var=D778N	getma.org/?cm=var&var=hg19,7,77807399,C,T&fts=all	D778N	--	--	1																																		MAGI2_uc003ugy.2_Missense_Mutation_p.D764N|MAGI2_uc010ldx.1_Missense_Mutation_p.D371N	1	1		possibly_damaging(0.848)	p.D778N	NM_012301	NP_036433		deleterious(0)	1	MAGI2_HUMAN	MAGI2	HGNC	Q86UL8	MAGI2_HUMAN					14	2586	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	UPI00001615D2	778			PDZ 4.		SNV	MAGI2,missense_variant,p.Asp778Asn,ENST00000354212,NM_012301.3;MAGI2,missense_variant,p.Asp764Asn,ENST00000419488,;MAGI2,missense_variant,p.Asp778Asn,ENST00000522391,;MAGI2,non_coding_transcript_exon_variant,,ENST00000524316,;MAGI2,upstream_gene_variant,,ENST00000522342,;MAGI2,non_coding_transcript_exon_variant,,ENST00000519748,;	uc003ugx.2	c.2332G>A	2586/6861	2	2			c.2332G>A						7	SNP	c.(2332-2334)GAT>AAT	20	20			ovary(5)|lung(4)|breast(1)|skin(1)	11	Broad	membrane associated guanylate kinase, WW and PDZ			77807399		0.453	ENSG00000187391	9020	g.chr7:77807399C>T		cell junction|synapse|synaptosome	phosphatase binding							96.276493	KEEP	22	24	-1	74	91	22	24	-1	109.278269	74	91	0.222826	1	0	0	0	0	1	0	0	0	--	--		0	T			MAGI2_uc003ugy.2_Missense_Mutation_p.D764N|MAGI2_uc010ldx.1_Missense_Mutation_p.D371N	228	GBM-32-1970-TP	p.D778N	C	AGATGAACATCCAATTCCTTA	NM_012301	NP_036433	77807399	Q86UL8	MAGI2_HUMAN	0			14	2586	-	T	T		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	Missense_Mutation	778			PDZ 4.			
MAGI3	0	broad.mit.edu	GRCh37	1	114225544	114225544	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-4210-01	TCGA-32-4210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307546.9:c.3354G>A	p.Ser1118=	p.S1118=	ENST00000307546	NM_001142782.1	1118	tcG/tcA	0			1			A	S	uc001edk.2	protein_coding	YES	CCDS44196.1			3354/4446									lung(3)|ovary(2)|central_nervous_system(1)	6	c.(3352-3354)TCG>TCA			hmmpanther:PTHR10316,hmmpanther:PTHR10316:SF10	membrane-associated guanylate kinase-related  3				ENSP00000304604		21/21	5.82E-05	0.000116				8.25E-05		8.36E-05	rs767690442,COSM894039	21/21	.		ENST00000307546	Transcript			apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	ENSG00000081026	g.chr1:114225544G>A	29647			LOW								--	--	1																																		MAGI3_uc001edi.3_3'UTR|MAGI3_uc010owm.1_3'UTR|MAGI3_uc001edj.2_3'UTR|MAGI3_uc009wgo.2_RNA	0,1	1			p.S1118S	NM_001142782	NP_001136254			0,1	MAGI3_HUMAN	MAGI3	HGNC	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)			21	3535	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	UPI00004589AE	1143					SNV	MAGI3,synonymous_variant,p.=,ENST00000307546,NM_001142782.1;MAGI3,3_prime_UTR_variant,,ENST00000369615,NM_152900.2;MAGI3,downstream_gene_variant,,ENST00000369617,;MAGI3,downstream_gene_variant,,ENST00000369611,;	uc001edk.2	c.3354G>A	3429/6430	2	2			c.3354G>A						1	SNP	c.(3352-3354)TCG>TCA	22	22			lung(3)|ovary(2)|central_nervous_system(1)	6	Broad	membrane-associated guanylate kinase-related  3			114225544		0.318	ENSG00000081026	9021	g.chr1:114225544G>A	apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding							15.238435	KEEP	4	5	-1	23	29	4	5	-1	21.826416	23	29	0.155172	1	0	0	0	0	0	0	1	0	--	--		0	A			MAGI3_uc001edi.3_3'UTR|MAGI3_uc010owm.1_3'UTR|MAGI3_uc001edj.2_3'UTR|MAGI3_uc009wgo.2_RNA	245	GBM-32-4210-TP	p.S1118S	G	ATAATCCTTCGTCTTCAAATG	NM_001142782	NP_001136254	114225544	Q5TCQ9	MAGI3_HUMAN	0		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	21	3535	+	A	A	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	Silent	1143						
MAGIX	79917		GRCh37	X	49021421	49021421	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000412696.2:c.500G>A	p.Arg167His	p.R167H	ENST00000412696	NM_024859.2	167	cGt/cAt	0																																																																																																																																																																																																																																												
MAGOH	0	broad.mit.edu	GRCh37	1	53692748	53692748	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-26-5139-01	TCGA-26-5139-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371470.3:c.410T>C	p.Ile137Thr	p.I137T	ENST00000371470	NM_002370.3	137	aTt/aCt	0			1			G	I/T	uc001cvf.1	protein_coding	YES	CCDS577.1			410/441										0	c.(409-411)ATT>ACT			Gene3D:1oo0A00,Pfam_domain:PF02792,hmmpanther:PTHR12638,Superfamily_domains:SSF89817	mago-nashi homolog				ENSP00000360525		5-May									COSM535605	5-May	.		ENST00000371470	Transcript			mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding	ENSG00000162385	g.chr1:53692748A>G	6815			MODERATE		2.48	medium	getma.org/?cm=msa&ty=f&p=MGN_HUMAN&rb=4&re=146&var=I137T	getma.org/pdb.php?prot=MGN_HUMAN&from=4&to=146&var=I137T	getma.org/?cm=var&var=hg19,1,53692748,A,G&fts=all	I137T	--	--	1																																		MAGOH_uc010ont.1_Missense_Mutation_p.I100T	1	1		possibly_damaging(0.546)	p.I137T	NM_002370	NP_002361		tolerated(0.14)	1	MGN_HUMAN	MAGOH	HGNC	P61326	MGN_HUMAN			F5H6P7_HUMAN		5	498	-			UPI0000022F39	137					SNV	MAGOH,missense_variant,p.Ile137Thr,ENST00000371470,NM_002370.3;MAGOH,missense_variant,p.Ile100Thr,ENST00000371466,;RP5-1024G6.7,downstream_gene_variant,,ENST00000569869,;MAGOH,non_coding_transcript_exon_variant,,ENST00000495868,;	uc001cvf.1	c.410T>C	572/756	4	4			c.410T>C						1	SNP	c.(409-411)ATT>ACT	21	21				0	Broad	mago-nashi homolog			53692748		0.378	ENSG00000162385	9023	g.chr1:53692748A>G	mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding	Colon(150;521 2416 7674 18129)			Colon(150;521 2416 7674 18129)			-12.649718	KEEP	1	2	-1	48	58	1	2	-1	8.150015	48	58	0.034091	1	0	0	0	0	1	0	0	0	--	--		0	G			MAGOH_uc010ont.1_Missense_Mutation_p.I100T	186	GBM-26-5139-TP	p.I137T	A	GTGTAATCCAATAAGACTGAA	NM_002370	NP_002361	53692748	P61326	MGN_HUMAN	0			5	498	-	G	G			Missense_Mutation	137						
MALT1	10892	broad.mit.edu	GRCh37	18	56400716	56400716	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-02-2470-01	TCGA-02-2470-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000348428.3:c.1313del	p.Asn438IlefsTer9	p.N438Ifs*9	ENST00000348428	NM_006785.3	437	gAa/ga	0			1			-	E/X	uc002lhm.1	protein_coding	YES	CCDS11967.1			1310/2475	T		BIRC3		MALT				ovary(2)|lung(1)|central_nervous_system(1)	4	c.(1309-1311)GAAfs			Superfamily_domains:SSF52129,Gene3D:3.40.50.1460,Pfam_domain:PF00656,hmmpanther:PTHR22576,hmmpanther:PTHR22576:SF20	mucosa associated lymphoid tissue lymphoma				ENSP00000319279		17-Nov										17-Nov	.		ENST00000348428	Transcript	1		activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity	ENSG00000172175	g.chr18:56400716delA	6819	3		HIGH								--	--	1																																		MALT1_uc002lhn.1_Frame_Shift_Del_p.E426fs		1			p.E437fs	NM_006785	NP_006776				MALT1_HUMAN	MALT1	HGNC	Q9UDY8	MALT1_HUMAN			K7EP42_HUMAN		11	1568	+			UPI000004D05E	437			Caspase-like.		deletion	MALT1,frameshift_variant,p.Asn438IlefsTer9,ENST00000348428,NM_006785.3,NM_173844.2;MALT1,frameshift_variant,p.Asn427IlefsTer9,ENST00000345724,;RP11-126O1.4,intron_variant,,ENST00000588835,;MALT1,upstream_gene_variant,,ENST00000589873,;	uc002lhm.1	c.1310delA	1568/5030	5	5			c.1310delA	T		BIRC3		MALT	18	DEL	c.(1309-1311)GAAfs	51	51			ovary(2)|lung(1)|central_nervous_system(1)	4	Broad	mucosa associated lymphoid tissue lymphoma			56400716		0.348	ENSG00000172175	9030	g.chr18:56400716delA	activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			549			549														0.04	1	1	0	1	0	0	0	0	0	--	--		0	-			MALT1_uc002lhn.1_Frame_Shift_Del_p.E426fs	5	GBM-02-2470-TP	p.E437fs	A	TATAGGTCTGAAAATTGTCTG	NM_006785	NP_006776	56400716	Q9UDY8	MALT1_HUMAN	0			11	1568	+	-	-			Frame_Shift_Del	437			Caspase-like.			
MALT1	10892	broad.mit.edu	GRCh37	18	56378165	56378165	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0141-01	TCGA-06-0141-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000348428.3:c.938A>G	p.Glu313Gly	p.E313G	ENST00000348428	NM_006785.3	313	gAg/gGg	0			1			G	E/G	uc002lhm.1	protein_coding	YES	CCDS11967.1			938/2475	T		BIRC3		MALT				ovary(2)|lung(1)|central_nervous_system(1)	4	c.(937-939)GAG>GGG			hmmpanther:PTHR22576,hmmpanther:PTHR22576:SF20	mucosa associated lymphoid tissue lymphoma				ENSP00000319279		17-Jul	1.65E-05					3.08E-05			rs752699972,COSM3403590	17-Jul	.		ENST00000348428	Transcript	1		activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity	ENSG00000172175	g.chr18:56378165A>G	6819			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=MALT1_HUMAN&rb=309&re=342&var=E313G	NA	getma.org/?cm=var&var=hg19,18,56378165,A,G&fts=all	E313G	--	--	1																																		MALT1_uc002lhn.1_Intron	0,1	1		benign(0.001)	p.E313G	NM_006785	NP_006776		tolerated(0.52)	0,1	MALT1_HUMAN	MALT1	HGNC	Q9UDY8	MALT1_HUMAN			K7EP42_HUMAN		7	1196	+			UPI000004D05E	313					SNV	MALT1,missense_variant,p.Glu313Gly,ENST00000348428,NM_006785.3,NM_173844.2;MALT1,intron_variant,,ENST00000345724,;RP11-126O1.4,intron_variant,,ENST00000588835,;	uc002lhm.1	c.938A>G	1196/5030	3	3			c.938A>G	T		BIRC3		MALT	18	SNP	c.(937-939)GAG>GGG	64	64			ovary(2)|lung(1)|central_nervous_system(1)	4	Broad	mucosa associated lymphoid tissue lymphoma			56378165		0.388	ENSG00000172175	9030	g.chr18:56378165A>G	activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			549			549	-13.14984	KEEP	0	3	-1	60	38	0	3	-1	7.36611	60	38	0.034483	1	0	0	0	0	1	0	0	0	--	--		0	G			MALT1_uc002lhn.1_Intron	21	GBM-06-0141-TP	p.E313G	A	AGAACAGATGAGGCAGTGGAG	NM_006785	NP_006776	56378165	Q9UDY8	MALT1_HUMAN	0			7	1196	+	G	G			Missense_Mutation	313						
MAMDC2	0	broad.mit.edu	GRCh37	9	72755159	72755159	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01	TCGA-12-0821-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377182.4:c.1093G>A	p.Val365Ile	p.V365I	ENST00000377182	NM_153267.4	365	Gta/Ata	0			1			A	V/I	uc004ahm.2	protein_coding	YES	CCDS6631.1			1093/2061									central_nervous_system(1)|pancreas(1)	2	c.(1093-1095)GTA>ATA			PROSITE_profiles:PS50060,hmmpanther:PTHR23282,Pfam_domain:PF00629,SMART_domains:SM00137,Superfamily_domains:SSF49899	MAM domain containing 2 precursor				ENSP00000366387		14-Aug									COSM3413698	14-Aug	.		ENST00000377182	Transcript				endoplasmic reticulum|membrane		ENSG00000165072	g.chr9:72755159G>A	23673			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=MAMC2_HUMAN&rb=342&re=498&var=V365I	NA	getma.org/?cm=var&var=hg19,9,72755159,G,A&fts=all	V365I	--	--	1																																		MAMDC2_uc004ahn.2_RNA	1	1		possibly_damaging(0.78)	p.V365I	NM_153267	NP_694999		deleterious(0.03)	1	MAMC2_HUMAN	MAMDC2	HGNC	Q7Z304	MAMC2_HUMAN					8	1710	+			UPI000013E44F	365			MAM 3.		SNV	MAMDC2,missense_variant,p.Val365Ile,ENST00000377182,NM_153267.4;MAMDC2-AS1,intron_variant,,ENST00000591368,;	uc004ahm.2	c.1093G>A	1710/3616	2	2			c.1093G>A						9	SNP	c.(1093-1095)GTA>ATA	47	47			central_nervous_system(1)|pancreas(1)	2	Broad	MAM domain containing 2 precursor			72755159		0.458	ENSG00000165072	9031	g.chr9:72755159G>A		endoplasmic reticulum|membrane								-34.963312	KEEP	9	0	-1	124	81	9	0	-1	9.84782	124	81	0.027473	1	0	0	0	0	1	0	0	0	--	--		0	A			MAMDC2_uc004ahn.2_RNA	123	GBM-12-0821-TP	p.V365I	G	CCGAGTGAAAGTAAAACCAAA	NM_153267	NP_694999	72755159	Q7Z304	MAMC2_HUMAN	0			8	1710	+	A	A			Missense_Mutation	365			MAM 3.			
MAMDC4	158056	broad.mit.edu	GRCh37	9	139752001	139752001	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0171-01	TCGA-06-0171-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317446.2:c.2289G>A	p.Trp763Ter	p.W763*	ENST00000317446	NM_206920.2	763	tgG/tgA	0			1			A	W/*	uc004cjs.2	protein_coding					2526/3651									breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	c.(2287-2289)TGG>TGA			PROSITE_profiles:PS50060,hmmpanther:PTHR23282:SF63,hmmpanther:PTHR23282,Pfam_domain:PF00629,SMART_domains:SM00137,Superfamily_domains:SSF49899	apical early endosomal glycoprotein precursor				ENSP00000411339		20/29									COSM2150352,COSM2150353	20/29	.		ENST00000445819	Transcript			protein transport	integral to membrane		ENSG00000177943	g.chr9:139752001G>A	24083			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,9,139752001,G,A&fts=all	W842*	--	--	1																																		MAMDC4_uc011mej.1_Nonsense_Mutation_p.W100*	1,1				p.W763*	NM_206920	NP_996803			1,1	AEGP_HUMAN	MAMDC4	HGNC	Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)			18	2339	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	UPI0000EE5638	842			MAM 5.|Extracellular (Potential).		SNV	MAMDC4,stop_gained,p.Trp842Ter,ENST00000445819,;MAMDC4,stop_gained,p.Trp763Ter,ENST00000317446,NM_206920.2;EDF1,downstream_gene_variant,,ENST00000371648,NM_153200.2;EDF1,downstream_gene_variant,,ENST00000371649,NM_001281297.1;EDF1,downstream_gene_variant,,ENST00000224073,NM_001281298.1,NM_003792.3,NM_001281299.1;MAMDC4,non_coding_transcript_exon_variant,,ENST00000485732,;MAMDC4,downstream_gene_variant,,ENST00000481327,;MAMDC4,stop_gained,p.Trp118Ter,ENST00000479475,;	uc004cjs.2	c.2289G>A	2576/3895	5	1			c.2289G>A						9	SNP	c.(2287-2289)TGG>TGA	56	56			breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	Broad	apical early endosomal glycoprotein precursor			139752001		0.657	ENSG00000177943	9032	g.chr9:139752001G>A	protein transport	integral to membrane				290			290	123.069962	KEEP	24	18	-1	33	29	24	18	-1	123.716198	33	29	0.410526	1	0	0	0	0	0	1	0	0	--	--		0	A			MAMDC4_uc011mej.1_Nonsense_Mutation_p.W100*	35	GBM-06-0171-TP	p.W763*	G	ATGCTGCCTGGGGCCCCCCAA	NM_206920	NP_996803	139752001	Q6UXC1	AEGP_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	18	2339	+	A	A	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	Nonsense_Mutation	842			MAM 5.|Extracellular (Potential).			
MAML1	9794	broad.mit.edu	GRCh37	5	179192466	179192466	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-02-2485-01	TCGA-02-2485-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000292599.3:c.455C>A	p.Ser152Tyr	p.S152Y	ENST00000292599	NM_014757.4	152	tCc/tAc	0			1			A	S/Y	uc003mkm.2	protein_coding	YES	CCDS34315.1			455/3051									lung(4)|ovary(2)	6	c.(454-456)TCC>TAC			hmmpanther:PTHR15692,hmmpanther:PTHR15692:SF19	mastermind-like 1				ENSP00000292599		5-Feb									COSM3410183,COSM3410184	5-Feb	.		ENST00000292599	Transcript			Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	ENSG00000161021	g.chr5:179192466C>A	13632			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=MAML1_HUMAN&rb=74&re=273&var=S152Y	NA	getma.org/?cm=var&var=hg19,5,179192466,C,A&fts=all	S152Y	--	--	1																																		MAML1_uc003mkn.1_Missense_Mutation_p.S152Y	1,1	1		possibly_damaging(0.534)	p.S152Y	NM_014757	NP_055572		deleterious(0)	1,1	MAML1_HUMAN	MAML1	HGNC	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)				2	718	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	UPI0000071286	152					SNV	MAML1,missense_variant,p.Ser152Tyr,ENST00000292599,NM_014757.4;MAML1,non_coding_transcript_exon_variant,,ENST00000503050,;MAML1,upstream_gene_variant,,ENST00000507385,;	uc003mkm.2	c.455C>A	718/5723	2	2			c.455C>A						5	SNP	c.(454-456)TCC>TAC	33	33			lung(4)|ovary(2)	6	Broad	mastermind-like 1			179192466		0.602	ENSG00000161021	9033	g.chr5:179192466C>A	Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			189			189	135.506498	KEEP	29	24	0.452830189	34	30	29	24	0.452830189	135.678482	34	30	0.456311	1	0	0	0	0	1	0	0	0	--	--		0	A			MAML1_uc003mkn.1_Missense_Mutation_p.S152Y	7	GBM-02-2485-TP	p.S152Y	C	GCCATCTCTTCCAATGGACTG	NM_014757	NP_055572	179192466	Q92585	MAML1_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	718	+	A	A	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Missense_Mutation	152						
MAML1	0	broad.mit.edu	GRCh37	5	179201677	179201677	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000292599.3:c.2850C>T	p.Gly950=	p.G950=	ENST00000292599	NM_014757.4	950	ggC/ggT	0			1			T	G	uc003mkm.2	protein_coding	YES	CCDS34315.1			2850/3051									lung(4)|ovary(2)	6	c.(2848-2850)GGC>GGT			hmmpanther:PTHR15692,hmmpanther:PTHR15692:SF19	mastermind-like 1				ENSP00000292599		5-May	0.000124					0.000229		6.16E-05	rs754008948,COSM3410185	5-May	.		ENST00000292599	Transcript			Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	ENSG00000161021	g.chr5:179201677C>T	13632			LOW								--	--	1																																		MAML1_uc003mkn.1_Intron	0,1	1			p.G950G	NM_014757	NP_055572			0,1	MAML1_HUMAN	MAML1	HGNC	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)				5	3113	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	UPI0000071286	950					SNV	MAML1,synonymous_variant,p.=,ENST00000292599,NM_014757.4;MAML1,intron_variant,,ENST00000503050,;MAML1,downstream_gene_variant,,ENST00000511027,;MAML1,downstream_gene_variant,,ENST00000507385,;	uc003mkm.2	c.2850C>T	3113/5723	2	2			c.2850C>T						5	SNP	c.(2848-2850)GGC>GGT	33	33			lung(4)|ovary(2)	6	Broad	mastermind-like 1			179201677		0.706	ENSG00000161021	9033	g.chr5:179201677C>T	Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			189			189	40.413014	KEEP	5	10	-1	12	9	5	10	-1	40.516424	12	9	0.441176	1	0	0	0	0	0	0	1	0	--	--		0	T			MAML1_uc003mkn.1_Intron	159	GBM-19-1390-TP	p.G950G	C	CACAGATGGGCGGTCGGGCGG	NM_014757	NP_055572	179201677	Q92585	MAML1_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	3113	+	T	T	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Silent	950						
MAML1	9794		GRCh37	5	179201198	179201198	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000292599.3:c.2371A>C	p.Thr791Pro	p.T791P	ENST00000292599	NM_014757.4	791	Acc/Ccc	0																																																																																																																																																																																																																																												
MAML2	84441	broad.mit.edu	GRCh37	11	96075000	96075000	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-06-0939-01	TCGA-06-0939-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000524717.1:c.60G>C	p.Ala20=	p.A20=	ENST00000524717	NM_032427.1	20	gcG/gcC	0			1			G	A	uc001pfw.1	protein_coding	YES	CCDS44714.1			60/3471	T		MECT1|CRTC3		salivary gland mucoepidermoid		CRTC1/MAML2(516)|CRTC3/MAML2(26)		salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546	c.(58-60)GCG>GCC			Low_complexity_(Seg):seg	mastermind-like 2				ENSP00000434552		5-Jan									COSM3398229	5-Jan	.		ENST00000524717	Transcript			Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	ENSG00000184384	g.chr11:96075000C>G	16259			LOW								--	--	1																																OREG0021305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1	1			p.A20A	NM_032427	NP_115803			1	MAML2_HUMAN	MAML2	HGNC	Q8IZL2	MAML2_HUMAN					1	1345	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	UPI00001B4EFC	20					SNV	MAML2,synonymous_variant,p.=,ENST00000524717,NM_032427.1;MIR1260B,downstream_gene_variant,,ENST00000582890,;	uc001pfw.1	c.60G>C	1345/7106	3	3			c.60G>C	T		MECT1|CRTC3		salivary gland mucoepidermoid	11	SNP	c.(58-60)GCG>GCC	15	15	CRTC1/MAML2(516)|CRTC3/MAML2(26)		salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546	Broad	mastermind-like 2			96075000		0.682	ENSG00000184384	9034	g.chr11:96075000C>G	Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			501			501	4.340245	KEEP	0	2	-1	9	6	0	2	-1	6.536673	9	6	0.125	1	0	0	0	0	0	0	1	0	--	--		0	G	OREG0021305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		78	GBM-06-0939-TP	p.A20A	C	CAAGGAGCCCCGCCCCAGAGG	NM_032427	NP_115803	96075000	Q8IZL2	MAML2_HUMAN	0			1	1345	-	G	G		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	Silent	20						
MAML2	84441		GRCh37	11	95825767	95825767	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000524717.1:c.1428G>A	p.Gly476=	p.G476=	ENST00000524717	NM_032427.1	476	ggG/ggA	0																																																																																																																																																																																																																																												
MAML3	0	broad.mit.edu	GRCh37	4	140810713	140810713	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-16-1045-01	TCGA-16-1045-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000509479.2:c.1877A>C	p.Asn626Thr	p.N626T	ENST00000509479	NM_018717.4	626	aAc/aCc	0			1			G	N/T	uc003ihz.1	protein_coding	YES	CCDS54805.1			1877/3417									ovary(1)	1	c.(1864-1866)AAC>ACC			hmmpanther:PTHR15692,hmmpanther:PTHR15692:SF8	mastermind-like 3				ENSP00000421180		5-Feb									COSM420192,COSM3748253,COSM420191	5-Feb	.		ENST00000509479	Transcript			Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	ENSG00000196782	g.chr4:140810713T>G	16272			MODERATE		0.77	neutral	getma.org/?cm=msa&ty=f&p=MAML3_HUMAN&rb=528&re=727&var=N622T	NA	getma.org/?cm=var&var=hg19,4,140810713,T,G&fts=all	N622T	--	--	1																																		MAML3_uc011chd.1_Intron	1,1,1	1		benign(0.005)	p.N622T	NM_018717	NP_061187			1,1,1	MAML3_HUMAN	MAML3	HGNC	Q96JK9	MAML3_HUMAN			Q9NPV6_HUMAN,E7EVW8_HUMAN		3	2617	-	all_hematologic(180;0.162)		UPI00001C1E1E	622			Gln-rich.		SNV	MAML3,missense_variant,p.Asn626Thr,ENST00000509479,NM_018717.4;MAML3,missense_variant,p.Asn470Thr,ENST00000327122,;MAML3,missense_variant,p.Asn154Thr,ENST00000398940,;MAML3,intron_variant,,ENST00000502696,;	uc003ihz.1	c.1865A>C	2734/6844	3	3			c.1865A>C						4	SNP	c.(1864-1866)AAC>ACC	64	64			ovary(1)	1	Broad	mastermind-like 3			140810713		0.393	ENSG00000196782	9035	g.chr4:140810713T>G	Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			182			182	-55.155773	KEEP	23	24	-1	158	136	23	24	-1	6.960778	158	136	0.061224	1	0	0	0	0	1	0	0	0	--	--		0	G			MAML3_uc011chd.1_Intron	157	GBM-16-1045-TP	p.N622T	T	CATCAAGGGGTTTTTGTTGGG	NM_018717	NP_061187	140810713	Q96JK9	MAML3_HUMAN	0			3	2617	-	G	G	all_hematologic(180;0.162)		Missense_Mutation	622			Gln-rich.			
MAN2A2	0	broad.mit.edu	GRCh37	15	91452684	91452684	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-26-6174-01	TCGA-26-6174-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360468.3:c.1324T>C	p.Tyr442His	p.Y442H	ENST00000360468	NM_006122.2	442	Tac/Cac	0			1			C	Y/H	uc010bnz.2	protein_coding	YES	CCDS32332.1			1324/3453									large_intestine(2)|ovary(1)	3	c.(1324-1326)TAC>CAC			Superfamily_domains:SSF88713,Gene3D:3.20.110.10,Pfam_domain:PF01074,hmmpanther:PTHR11607:SF24,hmmpanther:PTHR11607	mannosidase, alpha, class 2A, member 2				ENSP00000353655		22-Aug									COSM3402015	22-Aug	.		ENST00000360468	Transcript			mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	ENSG00000196547	g.chr15:91452684T>C	6825			MODERATE		3.54	high	getma.org/?cm=msa&ty=f&p=MA2A2_HUMAN&rb=167&re=497&var=Y442H	getma.org/pdb.php?prot=MA2A2_HUMAN&from=167&to=497&var=Y442H	getma.org/?cm=var&var=hg19,15,91452684,T,C&fts=all	Y442H	--	--	1																																		MAN2A2_uc010boa.2_Missense_Mutation_p.Y484H|MAN2A2_uc002bqc.2_Missense_Mutation_p.Y442H|MAN2A2_uc010uql.1_Missense_Mutation_p.Y146H|MAN2A2_uc010uqm.1_Silent_p.T88T|MAN2A2_uc010uqn.1_5'Flank	1	1		benign(0.211)	p.Y442H	NM_006122	NP_006113		deleterious(0.01)	1	MA2A2_HUMAN	MAN2A2	HGNC	P49641	MA2A2_HUMAN	Lung(145;0.229)		H0YNC8_HUMAN,H0YMU0_HUMAN,H0YL67_HUMAN,H0YK77_HUMAN,B7ZA35_HUMAN		9	1439	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		UPI0000408EF0	442			Lumenal (Potential).		SNV	MAN2A2,missense_variant,p.Tyr442His,ENST00000360468,NM_006122.2;MAN2A2,missense_variant,p.Tyr442His,ENST00000559717,;MAN2A2,missense_variant,p.Tyr127His,ENST00000557865,;MAN2A2,synonymous_variant,p.=,ENST00000431652,;MAN2A2,synonymous_variant,p.=,ENST00000560616,;MAN2A2,upstream_gene_variant,,ENST00000430376,;MAN2A2,downstream_gene_variant,,ENST00000558290,;MAN2A2,upstream_gene_variant,,ENST00000557990,;MAN2A2,upstream_gene_variant,,ENST00000558171,;MAN2A2,downstream_gene_variant,,ENST00000558853,;MAN2A2,downstream_gene_variant,,ENST00000559132,;MAN2A2,downstream_gene_variant,,ENST00000559965,;MAN2A2,downstream_gene_variant,,ENST00000559999,;MAN2A2,upstream_gene_variant,,ENST00000560147,;MAN2A2,downstream_gene_variant,,ENST00000558640,;MAN2A2,upstream_gene_variant,,ENST00000561240,;MAN2A2,missense_variant,p.Tyr442His,ENST00000560451,;MAN2A2,missense_variant,p.Tyr442His,ENST00000558161,;MAN2A2,non_coding_transcript_exon_variant,,ENST00000560192,;MAN2A2,upstream_gene_variant,,ENST00000561448,;MAN2A2,upstream_gene_variant,,ENST00000561047,;MAN2A2,upstream_gene_variant,,ENST00000559374,;MAN2A2,upstream_gene_variant,,ENST00000560505,;MAN2A2,downstream_gene_variant,,ENST00000561046,;	uc010bnz.2	c.1324T>C	1342/6268	3	3			c.1324T>C						15	SNP	c.(1324-1326)TAC>CAC	6	6			large_intestine(2)|ovary(1)	3	Broad	mannosidase, alpha, class 2A, member 2			91452684		0.567	ENSG00000196547	9043	g.chr15:91452684T>C	mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding							58.708344	KEEP	14	8	-1	30	26	14	8	-1	61.675961	30	26	0.279412	1	0	0	0	0	1	0	0	0	--	--		0	C			MAN2A2_uc010boa.2_Missense_Mutation_p.Y484H|MAN2A2_uc002bqc.2_Missense_Mutation_p.Y442H|MAN2A2_uc010uql.1_Missense_Mutation_p.Y146H|MAN2A2_uc010uqm.1_Silent_p.T88T|MAN2A2_uc010uqn.1_5'Flank	188	GBM-26-6174-TP	p.Y442H	T	GTTCTTCAACTACCAACGGCT	NM_006122	NP_006113	91452684	P49641	MA2A2_HUMAN	0	Lung(145;0.229)		9	1439	+	C	C	Lung NSC(78;0.0771)|all_lung(78;0.137)		Missense_Mutation	442			Lumenal (Potential).			
MAN2A2	0	broad.mit.edu	GRCh37	15	91454437	91454437	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs114870914	by1000genomes	TCGA-32-4213-01	TCGA-32-4213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360468.3:c.1912C>T	p.Arg638Cys	p.R638C	ENST00000360468	NM_006122.2	638	Cgc/Tgc	0		T:0.0008	1	T:0		T	R/C	uc010bnz.2	protein_coding	YES	CCDS32332.1			1912/3453									large_intestine(2)|ovary(1)	3	c.(1912-1914)CGC>TGC			Superfamily_domains:SSF74650,Gene3D:2.60.40.1180,hmmpanther:PTHR11607:SF24,hmmpanther:PTHR11607	mannosidase, alpha, class 2A, member 2		T:0		ENSP00000353655	T:0	22-Dec	3.29E-05	9.78E-05						0.000183	rs114870914,COSM3402017	22-Dec	.		ENST00000360468	Transcript		T:0.0002	mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	ENSG00000196547	g.chr15:91454437C>T	6825			MODERATE		1.78	low	getma.org/?cm=msa&ty=f&p=MA2A2_HUMAN&rb=589&re=647&var=R638C	NA	getma.org/?cm=var&var=hg19,15,91454437,C,T&fts=all	R638C	--	--	1																																		MAN2A2_uc010boa.2_Missense_Mutation_p.R680C|MAN2A2_uc002bqc.2_Missense_Mutation_p.R638C|MAN2A2_uc010uql.1_Missense_Mutation_p.R300C|MAN2A2_uc010uqm.1_Missense_Mutation_p.R217C|MAN2A2_uc010uqn.1_5'Flank	0,1	1		possibly_damaging(0.677)	p.R638C	NM_006122	NP_006113	T:0	deleterious(0)	0,1	MA2A2_HUMAN	MAN2A2	HGNC	P49641	MA2A2_HUMAN	Lung(145;0.229)		H0YNC8_HUMAN,H0YMU0_HUMAN,H0YL67_HUMAN,H0YK77_HUMAN,B7ZA35_HUMAN		13	2027	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		UPI0000408EF0	638			Lumenal (Potential).		SNV	MAN2A2,missense_variant,p.Arg638Cys,ENST00000360468,NM_006122.2;MAN2A2,missense_variant,p.Arg638Cys,ENST00000559717,;MAN2A2,missense_variant,p.Arg281Cys,ENST00000557865,;MAN2A2,missense_variant,p.Arg146Cys,ENST00000431652,;MAN2A2,missense_variant,p.Arg208Cys,ENST00000560616,;MAN2A2,missense_variant,p.Arg159Cys,ENST00000558171,;MAN2A2,upstream_gene_variant,,ENST00000430376,;MAN2A2,upstream_gene_variant,,ENST00000557990,;MAN2A2,downstream_gene_variant,,ENST00000559132,;MAN2A2,upstream_gene_variant,,ENST00000560147,;MAN2A2,non_coding_transcript_exon_variant,,ENST00000561240,;MAN2A2,upstream_gene_variant,,ENST00000558538,;MAN2A2,upstream_gene_variant,,ENST00000560926,;MAN2A2,downstream_gene_variant,,ENST00000558640,;MAN2A2,missense_variant,p.Arg638Cys,ENST00000560451,;MAN2A2,missense_variant,p.Arg638Cys,ENST00000558161,;MAN2A2,non_coding_transcript_exon_variant,,ENST00000560192,;MAN2A2,non_coding_transcript_exon_variant,,ENST00000560505,;MAN2A2,upstream_gene_variant,,ENST00000561448,;MAN2A2,upstream_gene_variant,,ENST00000561047,;MAN2A2,upstream_gene_variant,,ENST00000559374,;MAN2A2,upstream_gene_variant,,ENST00000560880,;MAN2A2,upstream_gene_variant,,ENST00000559341,;MAN2A2,downstream_gene_variant,,ENST00000561046,;	uc010bnz.2	c.1912C>T	1930/6268	1	1			c.1912C>T						15	SNP	c.(1912-1914)CGC>TGC	16	16			large_intestine(2)|ovary(1)	3	Broad	mannosidase, alpha, class 2A, member 2			91454437		0.617	ENSG00000196547	9043	g.chr15:91454437C>T	mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding							34.090494	KEEP	9	8	-1	9	17	9	8	-1	34.630585	9	17	0.363636	1	0	0	0	0	1	0	0	0	--	--		0	T			MAN2A2_uc010boa.2_Missense_Mutation_p.R680C|MAN2A2_uc002bqc.2_Missense_Mutation_p.R638C|MAN2A2_uc010uql.1_Missense_Mutation_p.R300C|MAN2A2_uc010uqm.1_Missense_Mutation_p.R217C|MAN2A2_uc010uqn.1_5'Flank	247	GBM-32-4213-TP	p.R638C	C	CCTCCCAGAGCGCACGGTGAT	NM_006122	NP_006113	91454437	P49641	MA2A2_HUMAN	0	Lung(145;0.229)		13	2027	+	T	T	Lung NSC(78;0.0771)|all_lung(78;0.137)		Missense_Mutation	638			Lumenal (Potential).			
MAN2B1	0	broad.mit.edu	GRCh37	19	12768940	12768940	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-14-1829-01	TCGA-14-1829-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000456935.2:c.1246G>C	p.Glu416Gln	p.E416Q	ENST00000456935	NM_000528.3	416	Gag/Cag	0			1			G	E/Q	uc002mub.2	protein_coding	YES	CCDS32919.1			1246/3036									ovary(4)|central_nervous_system(2)	6	c.(1246-1248)GAG>CAG			hmmpanther:PTHR11607:SF3,hmmpanther:PTHR11607,Gene3D:3bvxA02,Pfam_domain:PF09261,SMART_domains:SM00872,Superfamily_domains:SSF88688	mannosidase, alpha, class 2B, member 1				ENSP00000395473		24-Oct									COSM3403778	24-Oct	.		ENST00000456935	Transcript	1		protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	ENSG00000104774	g.chr19:12768940C>G	6826			MODERATE		2.335	medium	getma.org/?cm=msa&ty=f&p=MA2B1_HUMAN&rb=386&re=465&var=E416Q	getma.org/pdb.php?prot=MA2B1_HUMAN&from=386&to=465&var=E416Q	getma.org/?cm=var&var=hg19,19,12768940,C,G&fts=all	E416Q	2.62	medium	1																																		MAN2B1_uc010dyv.1_Missense_Mutation_p.E415Q	1	1		possibly_damaging(0.853)	p.E416Q	NM_000528	NP_000519		deleterious(0.03)	1	MA2B1_HUMAN	MAN2B1	HGNC	O00754	MA2B1_HUMAN			B4E0K9_HUMAN		10	1322	-			UPI00000559EC	416					SNV	MAN2B1,missense_variant,p.Glu416Gln,ENST00000456935,NM_000528.3,NM_001173498.1;MAN2B1,missense_variant,p.Glu415Gln,ENST00000221363,;MAN2B1,intron_variant,,ENST00000495617,;MAN2B1,upstream_gene_variant,,ENST00000595880,;MAN2B1,upstream_gene_variant,,ENST00000433513,;MAN2B1,non_coding_transcript_exon_variant,,ENST00000466794,;MAN2B1,non_coding_transcript_exon_variant,,ENST00000465830,;MAN2B1,downstream_gene_variant,,ENST00000462144,;MAN2B1,upstream_gene_variant,,ENST00000593686,;MAN2B1,upstream_gene_variant,,ENST00000596591,;	uc002mub.2	c.1246G>C	1287/3184	4	4			c.1246G>C						19	SNP	c.(1246-1248)GAG>CAG	28	28			ovary(4)|central_nervous_system(2)	6	Broad	mannosidase, alpha, class 2B, member 1			12768940		0.687	ENSG00000104774	9044	g.chr19:12768940C>G	protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding							80.341813	KEEP	18	21	-1	28	58	18	21	-1	83.715969	28	58	0.290698	1	0	0	0	0	1	0	0	0	2.62	medium		0	G			MAN2B1_uc010dyv.1_Missense_Mutation_p.E415Q	149	GBM-14-1829-TP	p.E416Q	C	ACCAGCGCCTCCAGCTGGTTG	NM_000528	NP_000519	12768940	O00754	MA2B1_HUMAN	0			10	1322	-	G	G			Missense_Mutation	416						
MAN2B1	0	broad.mit.edu	GRCh37	19	12757445	12757445	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000456935.2:c.3025G>T	p.Val1009Leu	p.V1009L	ENST00000456935	NM_000528.3	1009	Gtg/Ttg	0			1			A	V/L	uc002mub.2	protein_coding	YES	CCDS32919.1			3025/3036									ovary(4)|central_nervous_system(2)	6	c.(3025-3027)GTG>TTG			hmmpanther:PTHR11607:SF3,hmmpanther:PTHR11607	mannosidase, alpha, class 2B, member 1				ENSP00000395473		24/24									COSM3403775	24/24	.		ENST00000456935	Transcript	1		protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	ENSG00000104774	g.chr19:12757445C>A	6826			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=MA2B1_HUMAN&rb=972&re=1011&var=V1009L	NA	getma.org/?cm=var&var=hg19,19,12757445,C,A&fts=all	V1009L	--	--	1																																		MAN2B1_uc010dyv.1_Missense_Mutation_p.V1008L	1	1		benign(0)	p.V1009L	NM_000528	NP_000519		tolerated_low_confidence(0.41)	1	MA2B1_HUMAN	MAN2B1	HGNC	O00754	MA2B1_HUMAN			B4E0K9_HUMAN		24	3101	-			UPI00000559EC	1009					SNV	MAN2B1,missense_variant,p.Val1009Leu,ENST00000456935,NM_000528.3,NM_001173498.1;MAN2B1,missense_variant,p.Val1008Leu,ENST00000221363,;MAN2B1,non_coding_transcript_exon_variant,,ENST00000480851,;CTD-2192J16.22,missense_variant,p.Val196Leu,ENST00000597692,;MAN2B1,non_coding_transcript_exon_variant,,ENST00000466794,;MAN2B1,non_coding_transcript_exon_variant,,ENST00000469423,;MAN2B1,non_coding_transcript_exon_variant,,ENST00000493218,;CTD-2192J16.15,upstream_gene_variant,,ENST00000325000,;	uc002mub.2	c.3025G>T	3066/3184	1	1			c.3025G>T						19	SNP	c.(3025-3027)GTG>TTG	56	56			ovary(4)|central_nervous_system(2)	6	Broad	mannosidase, alpha, class 2B, member 1			12757445		0.602	ENSG00000104774	9044	g.chr19:12757445C>A	protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding							-15.763186	KEEP	2	1	0.333333333	50	51	2	1	0.333333333	7.336705	50	51	0.03125	1	0	0	0	0	1	0	0	0	--	--		0	A			MAN2B1_uc010dyv.1_Missense_Mutation_p.V1008L	160	GBM-19-1790-TP	p.V1009L	C	TAACCATCCACCTCCTTCCAT	NM_000528	NP_000519	12757445	O00754	MA2B1_HUMAN	0			24	3101	-	A	A			Missense_Mutation	1009						
MAN2B1	0	broad.mit.edu	GRCh37	19	12763065	12763065	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-28-5218-01	TCGA-28-5218-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000456935.2:c.1948G>C	p.Asp650His	p.D650H	ENST00000456935	NM_000528.3	650	Gac/Cac	0			1			G	D/H	uc002mub.2	protein_coding	YES	CCDS32919.1			1948/3036									ovary(4)|central_nervous_system(2)	6	c.(1948-1950)GAC>CAC			hmmpanther:PTHR11607:SF3,hmmpanther:PTHR11607,Pfam_domain:PF07748,Gene3D:2.70.98.30,Superfamily_domains:SSF74650	mannosidase, alpha, class 2B, member 1				ENSP00000395473		16/24									COSM3403777	16/24	.		ENST00000456935	Transcript	1		protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	ENSG00000104774	g.chr19:12763065C>G	6826			MODERATE		2.435	medium	getma.org/?cm=msa&ty=f&p=MA2B1_HUMAN&rb=510&re=1001&var=D650H	getma.org/pdb.php?prot=MA2B1_HUMAN&from=510&to=1001&var=D650H	getma.org/?cm=var&var=hg19,19,12763065,C,G&fts=all	D650H	--	--	1																																		MAN2B1_uc010dyv.1_Missense_Mutation_p.D649H	1	1		benign(0.164)	p.D650H	NM_000528	NP_000519		deleterious(0.02)	1	MA2B1_HUMAN	MAN2B1	HGNC	O00754	MA2B1_HUMAN			B4E0K9_HUMAN		16	2024	-			UPI00000559EC	650					SNV	MAN2B1,missense_variant,p.Asp650His,ENST00000456935,NM_000528.3,NM_001173498.1;MAN2B1,missense_variant,p.Asp649His,ENST00000221363,;MAN2B1,non_coding_transcript_exon_variant,,ENST00000595880,;MAN2B1,non_coding_transcript_exon_variant,,ENST00000433513,;MAN2B1,downstream_gene_variant,,ENST00000495617,;MAN2B1,3_prime_UTR_variant,,ENST00000596591,;MAN2B1,non_coding_transcript_exon_variant,,ENST00000466794,;CTD-2192J16.22,upstream_gene_variant,,ENST00000597692,;MAN2B1,upstream_gene_variant,,ENST00000469423,;MAN2B1,upstream_gene_variant,,ENST00000493218,;MAN2B1,downstream_gene_variant,,ENST00000593686,;	uc002mub.2	c.1948G>C	1989/3184	4	4			c.1948G>C						19	SNP	c.(1948-1950)GAC>CAC	21	21			ovary(4)|central_nervous_system(2)	6	Broad	mannosidase, alpha, class 2B, member 1			12763065		0.597	ENSG00000104774	9044	g.chr19:12763065C>G	protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding							-35.926488	KEEP	1	3	-1	86	91	1	3	-1	6.639466	86	91	0.018405	1	0	0	0	0	1	0	0	0	--	--		0	G			MAN2B1_uc010dyv.1_Missense_Mutation_p.D649H	224	GBM-28-5218-TP	p.D650H	C	CTTTCGTTGTCACCTATACTG	NM_000528	NP_000519	12763065	O00754	MA2B1_HUMAN	0			16	2024	-	G	G			Missense_Mutation	650						
MAN2B1	0	broad.mit.edu	GRCh37	19	12769127	12769127	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01	TCGA-76-4935-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000456935.2:c.1141G>A	p.Ala381Thr	p.A381T	ENST00000456935	NM_000528.3	381	Gcg/Acg	0			1			T	A/T	uc002mub.2	protein_coding	YES	CCDS32919.1			1141/3036									ovary(4)|central_nervous_system(2)	6	c.(1141-1143)GCG>ACG			hmmpanther:PTHR11607:SF3,hmmpanther:PTHR11607,Pfam_domain:PF01074,Gene3D:3.20.110.10,Superfamily_domains:SSF88713	mannosidase, alpha, class 2B, member 1				ENSP00000395473		24-Sep									COSM3403779	24-Sep	.		ENST00000456935	Transcript	1		protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	ENSG00000104774	g.chr19:12769127C>T	6826			MODERATE		2.635	medium	getma.org/?cm=msa&ty=f&p=MA2B1_HUMAN&rb=64&re=381&var=A381T	getma.org/pdb.php?prot=MA2B1_HUMAN&from=64&to=381&var=A381T	getma.org/?cm=var&var=hg19,19,12769127,C,T&fts=all	A381T	--	--	1																																		MAN2B1_uc010dyv.1_Missense_Mutation_p.A380T	1	1		probably_damaging(0.971)	p.A381T	NM_000528	NP_000519		deleterious(0)	1	MA2B1_HUMAN	MAN2B1	HGNC	O00754	MA2B1_HUMAN			B4E0K9_HUMAN		9	1217	-			UPI00000559EC	381					SNV	MAN2B1,missense_variant,p.Ala381Thr,ENST00000456935,NM_000528.3,NM_001173498.1;MAN2B1,missense_variant,p.Ala380Thr,ENST00000221363,;MAN2B1,intron_variant,,ENST00000495617,;MAN2B1,upstream_gene_variant,,ENST00000595880,;MAN2B1,upstream_gene_variant,,ENST00000433513,;MAN2B1,non_coding_transcript_exon_variant,,ENST00000466794,;MAN2B1,non_coding_transcript_exon_variant,,ENST00000465830,;MAN2B1,downstream_gene_variant,,ENST00000462144,;MAN2B1,upstream_gene_variant,,ENST00000593686,;MAN2B1,upstream_gene_variant,,ENST00000596591,;	uc002mub.2	c.1141G>A	1182/3184	1	1			c.1141G>A						19	SNP	c.(1141-1143)GCG>ACG	7	7			ovary(4)|central_nervous_system(2)	6	Broad	mannosidase, alpha, class 2B, member 1			12769127		0.617	ENSG00000104774	9044	g.chr19:12769127C>T	protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding							9.384837	KEEP	7	9	-1	58	78	7	9	-1	28.471032	58	78	0.110236	1	0	0	0	0	1	0	0	0	--	--		0	T			MAN2B1_uc010dyv.1_Missense_Mutation_p.A380T	273	GBM-76-4935-TP	p.A381T	C	GGGCCATCCGCGTAAGGGAAG	NM_000528	NP_000519	12769127	O00754	MA2B1_HUMAN	0			9	1217	-	T	T			Missense_Mutation	381						
MAN2B2	0	broad.mit.edu	GRCh37	4	6578364	6578364	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-3652-01	TCGA-12-3652-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285599.3:c.198C>T	p.Arg66=	p.R66=	ENST00000285599	NM_015274.1	66	cgC/cgT	0			1			T	R	uc003gjf.1	protein_coding	YES	CCDS33951.1			198/3030									ovary(2)	2	c.(196-198)CGC>CGT			Gene3D:3.20.110.10,Pfam_domain:PF01074,hmmpanther:PTHR11607,hmmpanther:PTHR11607:SF5,Superfamily_domains:SSF88713	mannosidase, alpha, class 2B, member 2				ENSP00000285599		19-Feb	8.24E-06							6.06E-05	rs779997292,COSM1486040	19-Feb	.		ENST00000285599	Transcript			mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	ENSG00000013288	g.chr4:6578364C>T	29623			LOW								--	--	1																																		MAN2B2_uc003gje.1_Silent_p.R66R|MAN2B2_uc011bwf.1_Silent_p.R66R	0,1	1			p.R66R	NM_015274	NP_056089			0,1	MA2B2_HUMAN	MAN2B2	HGNC	Q9Y2E5	MA2B2_HUMAN			Q05BN7_HUMAN,B3KQN1_HUMAN		2	234	+			UPI000004BF05	66					SNV	MAN2B2,synonymous_variant,p.=,ENST00000505907,;MAN2B2,synonymous_variant,p.=,ENST00000285599,NM_015274.1;MAN2B2,synonymous_variant,p.=,ENST00000504248,;	uc003gjf.1	c.198C>T	234/5143	2	2			c.198C>T						4	SNP	c.(196-198)CGC>CGT	28	28			ovary(2)	2	Broad	mannosidase, alpha, class 2B, member 2			6578364		0.627	ENSG00000013288	9045	g.chr4:6578364C>T	mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding							138.487678	KEEP	31	30	-1	42	48	31	30	-1	139.566125	42	48	0.401575	1	0	0	0	0	0	0	1	0	--	--		0	T			MAN2B2_uc003gje.1_Silent_p.R66R|MAN2B2_uc011bwf.1_Silent_p.R66R	127	GBM-12-3652-TP	p.R66R	C	AGCTGGCCCGCGGCCAGCAGC	NM_015274	NP_056089	6578364	Q9Y2E5	MA2B2_HUMAN	0			2	234	+	T	T			Silent	66						
MAN2B2	0	broad.mit.edu	GRCh37	4	6594914	6594914	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-14-2554-01	TCGA-14-2554-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285599.3:c.695G>A	p.Trp232Ter	p.W232*	ENST00000285599	NM_015274.1	232	tGg/tAg	0			1			A	W/*	uc003gjf.1	protein_coding	YES	CCDS33951.1			695/3030									ovary(2)	2	c.(694-696)TGG>TAG			Gene3D:3.20.110.10,Pfam_domain:PF01074,hmmpanther:PTHR11607,hmmpanther:PTHR11607:SF5,Superfamily_domains:SSF88713	mannosidase, alpha, class 2B, member 2				ENSP00000285599		19-Jun									COSM3409398	19-Jun	.		ENST00000285599	Transcript			mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	ENSG00000013288	g.chr4:6594914G>A	29623			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,4,6594914,G,A&fts=all	W232*	--	--	1																																		MAN2B2_uc003gje.1_Nonsense_Mutation_p.W232*|MAN2B2_uc011bwf.1_Nonsense_Mutation_p.W232*	1	1			p.W232*	NM_015274	NP_056089			1	MA2B2_HUMAN	MAN2B2	HGNC	Q9Y2E5	MA2B2_HUMAN			Q05BN7_HUMAN,B3KQN1_HUMAN		6	731	+			UPI000004BF05	232					SNV	MAN2B2,stop_gained,p.Trp231Ter,ENST00000505907,;MAN2B2,stop_gained,p.Trp232Ter,ENST00000285599,NM_015274.1;MAN2B2,stop_gained,p.Trp232Ter,ENST00000504248,;	uc003gjf.1	c.695G>A	731/5143	5	2			c.695G>A						4	SNP	c.(694-696)TGG>TAG	22	22			ovary(2)	2	Broad	mannosidase, alpha, class 2B, member 2			6594914		0.353	ENSG00000013288	9045	g.chr4:6594914G>A	mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding							66.076347	KEEP	8	23	-1	21	34	8	23	-1	67.487931	21	34	0.347826	1	0	0	0	0	0	1	0	0	--	--		0	A			MAN2B2_uc003gje.1_Nonsense_Mutation_p.W232*|MAN2B2_uc011bwf.1_Nonsense_Mutation_p.W232*	150	GBM-14-2554-TP	p.W232*	G	GGATTTTACTGGAATGGCGTG	NM_015274	NP_056089	6594914	Q9Y2E5	MA2B2_HUMAN	0			6	731	+	A	A			Nonsense_Mutation	232						
MAN2B2	0	broad.mit.edu	GRCh37	4	6598876	6598876	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2634-01	TCGA-32-2634-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285599.3:c.1094G>A	p.Arg365His	p.R365H	ENST00000285599	NM_015274.1	365	cGc/cAc	0	A:0		1			A	R/H	uc003gjf.1	protein_coding	YES	CCDS33951.1			1094/3030									ovary(2)	2	c.(1093-1095)CGC>CAC			Gene3D:3bvxA02,Pfam_domain:PF09261,hmmpanther:PTHR11607,hmmpanther:PTHR11607:SF5,SMART_domains:SM00872,Superfamily_domains:SSF88688	mannosidase, alpha, class 2B, member 2			A:0.0001	ENSP00000285599		19-Aug	5.77E-05					1.51E-05		0.000369	rs372535950,COSM3409399	19-Aug	.		ENST00000285599	Transcript			mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	ENSG00000013288	g.chr4:6598876G>A	29623			MODERATE		3.18	medium	getma.org/?cm=msa&ty=f&p=MA2B2_HUMAN&rb=356&re=439&var=R365H	NA	getma.org/?cm=var&var=hg19,4,6598876,G,A&fts=all	R365H	--	--	1																																		MAN2B2_uc003gje.1_Missense_Mutation_p.R365H|MAN2B2_uc011bwf.1_Missense_Mutation_p.R314H	0,1	1		possibly_damaging(0.458)	p.R365H	NM_015274	NP_056089		tolerated(0.09)	0,1	MA2B2_HUMAN	MAN2B2	HGNC	Q9Y2E5	MA2B2_HUMAN			Q05BN7_HUMAN,B3KQN1_HUMAN		8	1130	+			UPI000004BF05	365					SNV	MAN2B2,missense_variant,p.Arg364His,ENST00000505907,;MAN2B2,missense_variant,p.Arg365His,ENST00000285599,NM_015274.1;MAN2B2,missense_variant,p.Arg314His,ENST00000504248,;	uc003gjf.1	c.1094G>A	1130/5143	1	1			c.1094G>A						4	SNP	c.(1093-1095)CGC>CAC	59	59			ovary(2)	2	Broad	mannosidase, alpha, class 2B, member 2			6598876		0.632	ENSG00000013288	9045	g.chr4:6598876G>A	mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding							297.926776	KEEP	67	59	-1	92	72	67	59	-1	298.351446	92	72	0.453333	1	0	0	0	0	1	0	0	0	--	--		0	A			MAN2B2_uc003gje.1_Missense_Mutation_p.R365H|MAN2B2_uc011bwf.1_Missense_Mutation_p.R314H	241	GBM-32-2634-TP	p.R365H	G	TACACGTCCCGCAGCTCACTG	NM_015274	NP_056089	6598876	Q9Y2E5	MA2B2_HUMAN	0			8	1130	+	A	A			Missense_Mutation	365						
MANBAL	63905	broad.mit.edu	GRCh37	20	35944753	35944753	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-2569-01	TCGA-06-2569-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373605.3:c.193A>G	p.Lys65Glu	p.K65E	ENST00000373605		65	Aag/Gag	0			1			G	K/E	uc002xgu.2	protein_coding	YES	CCDS13293.1			193/258										0	c.(193-195)AAG>GAG			hmmpanther:PTHR14409,Pfam_domain:PF06783	mannosidase, beta A, lysosomal-like				ENSP00000362707		4-Apr									COSM3405053	4-Apr	.		ENST00000373605	Transcript				integral to membrane		ENSG00000101363	g.chr20:35944753A>G	15799			MODERATE								--	--	1																																		MANBAL_uc002xgv.2_Missense_Mutation_p.K65E|MANBAL_uc002xgw.2_RNA|MANBAL_uc010gfx.2_RNA|MANBAL_uc010gfy.2_RNA	1	1		possibly_damaging(0.589)	p.K65E	NM_022077	NP_071360		tolerated(0.17)	1	MANBL_HUMAN	MANBAL	HGNC	Q9NQG1	MANBL_HUMAN					4	405	+		Myeloproliferative disorder(115;0.00878)	UPI0000049DB4	65					SNV	MANBAL,missense_variant,p.Lys65Glu,ENST00000373605,;MANBAL,missense_variant,p.Lys65Glu,ENST00000397152,;MANBAL,missense_variant,p.Lys65Glu,ENST00000397151,;MANBAL,missense_variant,p.Lys65Glu,ENST00000397156,NM_022077.3;MANBAL,missense_variant,p.Lys65Glu,ENST00000373606,NM_001003897.1;MANBAL,3_prime_UTR_variant,,ENST00000397150,;	uc002xgu.2	c.193A>G	1005/1915	3	3			c.193A>G						20	SNP	c.(193-195)AAG>GAG	1	1				0	Broad	mannosidase, beta A, lysosomal-like			35944753		0.552	ENSG00000101363	9048	g.chr20:35944753A>G		integral to membrane								79.078269	KEEP	13	21	-1	48	48	13	21	-1	85.38622	48	48	0.247706	1	0	0	0	0	1	0	0	0	--	--		0	G			MANBAL_uc002xgv.2_Missense_Mutation_p.K65E|MANBAL_uc002xgw.2_RNA|MANBAL_uc010gfx.2_RNA|MANBAL_uc010gfy.2_RNA	90	GBM-06-2569-TP	p.K65E	A	GGTGACGAGGAAGCCCAAGGC	NM_022077	NP_071360	35944753	Q9NQG1	MANBL_HUMAN	0			4	405	+	G	G		Myeloproliferative disorder(115;0.00878)	Missense_Mutation	65						
MANEA	79694		GRCh37	6	96054014	96054014	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000358812.4:c.1122G>A	p.Arg374=	p.R374=	ENST00000358812	NM_024641.3	374	cgG/cgA	0																																																																																																																																																																																																																																												
MANF	7873	broad.mit.edu	GRCh37	3	51425306	51425306	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0169-01	TCGA-06-0169-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000528157.1:c.361T>C	p.Tyr121His	p.Y121H	ENST00000528157	NM_006010.4	121	Tat/Cat	0			1			C	Y/H	uc003dbc.2	protein_coding	YES	CCDS46836.2			361/549										0	c.(370-372)TAT>CAT			Pfam_domain:PF10208,hmmpanther:PTHR12990,hmmpanther:PTHR12990:SF7	mesencephalic astrocyte-derived neurotrophic				ENSP00000432799		4-Mar									COSM3408773,COSM3408774	4-Mar	.		ENST00000528157	Transcript	1		response to unfolded protein	extracellular region	growth factor activity	ENSG00000145050	g.chr3:51425306T>C	15461			MODERATE		2.97	medium	getma.org/?cm=msa&ty=f&p=MANF_HUMAN&rb=29&re=182&var=Y121H	getma.org/pdb.php?prot=MANF_HUMAN&from=29&to=182&var=Y121H	getma.org/?cm=var&var=hg19,3,51425306,T,C&fts=all	Y121H	--	--	1																																			1,1	1		probably_damaging(1)	p.Y124H	NM_006010	NP_006001		deleterious(0)	1,1	MANF_HUMAN	MANF	HGNC	P55145	MANF_HUMAN			A8K878_HUMAN		3	432	+			UPI0000169E96	121					SNV	MANF,missense_variant,p.Tyr121His,ENST00000528157,NM_006010.4;DOCK3,downstream_gene_variant,,ENST00000266037,NM_004947.4;RBM15B,upstream_gene_variant,,ENST00000323686,NM_013286.4;MANF,non_coding_transcript_exon_variant,,ENST00000470900,;MANF,3_prime_UTR_variant,,ENST00000446668,;MANF,non_coding_transcript_exon_variant,,ENST00000482262,;	uc003dbc.2	c.370T>C	657/1153	3	3			c.370T>C						3	SNP	c.(370-372)TAT>CAT	56	56				0	Broad	mesencephalic astrocyte-derived neurotrophic			51425306		0.458	ENSG00000145050	9051	g.chr3:51425306T>C	response to unfolded protein	extracellular region	growth factor activity							40.584107	KEEP	10	4	-1	19	16	10	4	-1	42.469909	19	16	0.27907	1	0	0	0	0	1	0	0	0	--	--		0	C				34	GBM-06-0169-TP	p.Y124H	T	TGAGCTTAAGTATGGTGAGTA	NM_006010	NP_006001	51425306	P55145	MANF_HUMAN	0			3	432	+	C	C			Missense_Mutation	121						
MAOB	0	broad.mit.edu	GRCh37	X	43626865	43626865	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-6391-01	TCGA-06-6391-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378069.4:c.1411G>C	p.Asp471His	p.D471H	ENST00000378069	NM_000898.4	471	Gat/Cat	0			1			G	D/H	uc004dfz.3	protein_coding	YES	CCDS14261.1			1411/1563									ovary(1)|central_nervous_system(1)	2	c.(1411-1413)GAT>CAT			hmmpanther:PTHR10742,hmmpanther:PTHR10742:SF219,Prints_domain:PR00757	monoamine oxidase B	Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)			ENSP00000367309		15/15										15/15	.		ENST00000378069	Transcript			xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity	ENSG00000069535	g.chrX:43626865C>G	6834			MODERATE		2.74	medium	getma.org/?cm=msa&ty=f&p=AOFB_HUMAN&rb=452&re=520&var=D471H	getma.org/pdb.php?prot=AOFB_HUMAN&from=452&to=520&var=D471H	getma.org/?cm=var&var=hg19,X,43626865,C,G&fts=all	D471H	--	--	1																																		MAOB_uc011mkx.1_3'UTR|MAOB_uc011mky.1_Missense_Mutation_p.D455H		1		possibly_damaging(0.73)	p.D471H	NM_000898	NP_000889		deleterious(0)		AOFB_HUMAN	MAOB	HGNC	P27338	AOFB_HUMAN			H0YCD8_HUMAN,B7Z242_HUMAN		15	1587	-			UPI0000049071	471			Cytoplasmic.		SNV	MAOB,missense_variant,p.Asp471His,ENST00000378069,NM_000898.4;MAOB,missense_variant,p.Asp455His,ENST00000536181,;MAOB,splice_region_variant,,ENST00000538942,;	uc004dfz.3	c.1411G>C	1559/2566	3	3			c.1411G>C						23	SNP	c.(1411-1413)GAT>CAT	53	53			ovary(1)|central_nervous_system(1)	2	Broad	monoamine oxidase B		Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	43626865		0.348	ENSG00000069535	9054	g.chrX:43626865C>G	xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity							25.507649	KEEP	6	5	-1	30	31	6	5	-1	32.500073	30	31	0.15873	1	0	0	0	0	1	0	0	0	--	--		0	G			MAOB_uc011mkx.1_3'UTR|MAOB_uc011mky.1_Missense_Mutation_p.D455H	107	GBM-06-6391-TP	p.D471H	C	GCAGGGACATCCTAGGTTCAG	NM_000898	NP_000889	43626865	P27338	AOFB_HUMAN	0			15	1587	-	G	G			Missense_Mutation	471			Cytoplasmic.			
MAOB	4129		GRCh37	X	43628565	43628565	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000378069.4:c.1336G>C	p.Ala446Pro	p.A446P	ENST00000378069	NM_000898.4	446	Gca/Cca	0																																																																																																																																																																																																																																												
MAP1A	0	broad.mit.edu	GRCh37	15	43816806	43816806	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-32-1986-01	TCGA-32-1986-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300231.5:c.3135T>C	p.Ala1045=	p.A1045=	ENST00000300231		1045	gcT/gcC	0			1			C	A	uc001zrt.2	protein_coding	YES	CCDS42031.1			3135/8412									ovary(3)|breast(3)|pancreas(2)|skin(1)	9	c.(3133-3135)GCT>GCC			hmmpanther:PTHR13843:SF6,hmmpanther:PTHR13843	microtubule-associated protein 1A	Estramustine(DB01196)			ENSP00000300231		6-Apr									COSM3401745	6-Apr	.		ENST00000300231	Transcript				cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	ENSG00000166963	g.chr15:43816806T>C	6835			LOW								--	--	1																																			1	1			p.A1045A	NM_002373	NP_002364			1	MAP1A_HUMAN	MAP1A	HGNC	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)			4	3602	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	UPI000013E63C	1045					SNV	MAP1A,synonymous_variant,p.=,ENST00000382031,;MAP1A,synonymous_variant,p.=,ENST00000399453,NM_002373.5;MAP1A,synonymous_variant,p.=,ENST00000300231,;	uc001zrt.2	c.3135T>C	3585/10258	3	3			c.3135T>C						15	SNP	c.(3133-3135)GCT>GCC	16	16			ovary(3)|breast(3)|pancreas(2)|skin(1)	9	Broad	microtubule-associated protein 1A		Estramustine(DB01196)	43816806		0.572	ENSG00000166963	9055	g.chr15:43816806T>C		cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity							81.137004	KEEP	16	25	-1	42	44	16	25	-1	85.611916	42	44	0.288288	1	0	0	0	0	0	0	1	0	--	--		0	C				233	GBM-32-1986-TP	p.A1045A	T	AAGATGCTGCTGAGGAGACAG	NM_002373	NP_002364	43816806	P78559	MAP1A_HUMAN	0		GBM - Glioblastoma multiforme(94;3.05e-06)	4	3602	+	C	C		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	Silent	1045						
MAP1A	0	broad.mit.edu	GRCh37	15	43817784	43817784	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2634-01	TCGA-32-2634-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300231.5:c.4113C>T	p.Asp1371=	p.D1371=	ENST00000300231		1371	gaC/gaT	0			1			T	D	uc001zrt.2	protein_coding	YES	CCDS42031.1			4113/8412									ovary(3)|breast(3)|pancreas(2)|skin(1)	9	c.(4111-4113)GAC>GAT			hmmpanther:PTHR13843:SF6,hmmpanther:PTHR13843	microtubule-associated protein 1A	Estramustine(DB01196)			ENSP00000300231		6-Apr									COSM3401746	6-Apr	.		ENST00000300231	Transcript				cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	ENSG00000166963	g.chr15:43817784C>T	6835			LOW								--	--	1																																			1	1			p.D1371D	NM_002373	NP_002364			1	MAP1A_HUMAN	MAP1A	HGNC	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)			4	4580	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	UPI000013E63C	1371					SNV	MAP1A,synonymous_variant,p.=,ENST00000382031,;MAP1A,synonymous_variant,p.=,ENST00000399453,NM_002373.5;MAP1A,synonymous_variant,p.=,ENST00000300231,;	uc001zrt.2	c.4113C>T	4563/10258	1	1			c.4113C>T						15	SNP	c.(4111-4113)GAC>GAT	9	9			ovary(3)|breast(3)|pancreas(2)|skin(1)	9	Broad	microtubule-associated protein 1A		Estramustine(DB01196)	43817784		0.453	ENSG00000166963	9055	g.chr15:43817784C>T		cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity							103.479892	KEEP	9	28	-1	25	31	9	28	-1	103.978362	25	31	0.418605	1	0	0	0	0	0	0	1	0	--	--		0	T				241	GBM-32-2634-TP	p.D1371D	C	AGCAGAAAGACAAAACTCTGG	NM_002373	NP_002364	43817784	P78559	MAP1A_HUMAN	0		GBM - Glioblastoma multiforme(94;3.05e-06)	4	4580	+	T	T		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	Silent	1371						
MAP1A	4130		GRCh37	15	43820051	43820051	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000300231.5:c.6380C>G	p.Pro2127Arg	p.P2127R	ENST00000300231		2127	cCt/cGt	0																																																																																																																																																																																																																																												
MAP1B	4131	broad.mit.edu	GRCh37	5	71494069	71494069	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0155-01	TCGA-06-0155-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296755.7:c.4887A>G	p.Ala1629=	p.A1629=	ENST00000296755	NM_005909.3	1629	gcA/gcG	0			1			G	A	uc003kbw.3	protein_coding	YES	CCDS4012.1			4887/7407									large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	c.(4885-4887)GCA>GCG			hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF5	microtubule-associated protein 1B				ENSP00000296755		7-May									COSM2149952	7-May	.		ENST00000296755	Transcript				microtubule|microtubule associated complex	structural molecule activity	ENSG00000131711	g.chr5:71494069A>G	6836			LOW								--	--	1																																		MAP1B_uc010iyw.1_Silent_p.A1646A|MAP1B_uc010iyx.1_Silent_p.A1503A|MAP1B_uc010iyy.1_Silent_p.A1503A	1	1			p.A1629A	NM_005909	NP_005900			1	MAP1B_HUMAN	MAP1B	HGNC	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	D6RGJ3_HUMAN,D6RA40_HUMAN		5	5128	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	UPI000013E382	1629					SNV	MAP1B,synonymous_variant,p.=,ENST00000296755,NM_005909.3;MAP1B,downstream_gene_variant,,ENST00000504492,;MAP1B,downstream_gene_variant,,ENST00000511641,;MAP1B,downstream_gene_variant,,ENST00000513526,;	uc003kbw.3	c.4887A>G	5185/12034	3	3			c.4887A>G						5	SNP	c.(4885-4887)GCA>GCG	1	1			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	Broad	microtubule-associated protein 1B			71494069		0.438	ENSG00000131711	9056	g.chr5:71494069A>G		microtubule|microtubule associated complex	structural molecule activity	Melanoma(17;367 822 11631 31730 47712)			Melanoma(17;367 822 11631 31730 47712)			155.907121	KEEP	29	31	-1	83	88	29	31	-1	167.240759	83	88	0.259259	1	0	0	0	0	0	0	1	0	--	--		0	G			MAP1B_uc010iyw.1_Silent_p.A1646A|MAP1B_uc010iyx.1_Silent_p.A1503A|MAP1B_uc010iyy.1_Silent_p.A1503A	27	GBM-06-0155-TP	p.A1629A	A	CTAAAACTGCAAAGTCCAGGA	NM_005909	NP_005900	71494069	P46821	MAP1B_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	5128	+	G	G		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	Silent	1629						
MAP1B	0	broad.mit.edu	GRCh37	5	71493036	71493036	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-27-2519-01	TCGA-27-2519-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296755.7:c.3854delA	p.Glu1285GlyfsTer10	p.E1285Gfs*10	ENST00000296755	NM_005909.3	1285	gAg/gg	0			1			-	E/X	uc003kbw.3	protein_coding	YES	CCDS4012.1			3854/7407									large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	c.(3853-3855)GAGfs			hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF5	microtubule-associated protein 1B				ENSP00000296755		7-May										7-May	.		ENST00000296755	Transcript				microtubule|microtubule associated complex	structural molecule activity	ENSG00000131711	g.chr5:71493036delA	6836			HIGH								--	--	1																																		MAP1B_uc010iyw.1_Frame_Shift_Del_p.E1302fs|MAP1B_uc010iyx.1_Frame_Shift_Del_p.E1159fs|MAP1B_uc010iyy.1_Frame_Shift_Del_p.E1159fs		1			p.E1285fs	NM_005909	NP_005900				MAP1B_HUMAN	MAP1B	HGNC	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	D6RGJ3_HUMAN,D6RA40_HUMAN		5	4095	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	UPI000013E382	1285					deletion	MAP1B,frameshift_variant,p.Glu1285GlyfsTer10,ENST00000296755,NM_005909.3;MAP1B,downstream_gene_variant,,ENST00000504492,;MAP1B,downstream_gene_variant,,ENST00000511641,;MAP1B,downstream_gene_variant,,ENST00000513526,;	uc003kbw.3	c.3854delA	4152/12034	5	5			c.3854delA						5	DEL	c.(3853-3855)GAGfs	28	28			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	Broad	microtubule-associated protein 1B			71493036		0.527	ENSG00000131711	9056	g.chr5:71493036delA		microtubule|microtubule associated complex	structural molecule activity	Melanoma(17;367 822 11631 31730 47712)			Melanoma(17;367 822 11631 31730 47712)																0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			MAP1B_uc010iyw.1_Frame_Shift_Del_p.E1302fs|MAP1B_uc010iyx.1_Frame_Shift_Del_p.E1159fs|MAP1B_uc010iyy.1_Frame_Shift_Del_p.E1159fs	199	GBM-27-2519-TP	p.E1285fs	A	ACGCCCAATGAGATTAAAGTC	NM_005909	NP_005900	71493036	P46821	MAP1B_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	4095	+	-	-		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	Frame_Shift_Del	1285						
MAP1B	0	broad.mit.edu	GRCh37	5	71490832	71490832	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-28-2502-01	TCGA-28-2502-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296755.7:c.1650A>G	p.Lys550=	p.K550=	ENST00000296755	NM_005909.3	550	aaA/aaG	0			1			G	K	uc003kbw.3	protein_coding	YES	CCDS4012.1			1650/7407									large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	c.(1648-1650)AAA>AAG			hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF5	microtubule-associated protein 1B				ENSP00000296755		7-May									COSM3410391	7-May	.		ENST00000296755	Transcript				microtubule|microtubule associated complex	structural molecule activity	ENSG00000131711	g.chr5:71490832A>G	6836			LOW								--	--	1																																		MAP1B_uc010iyw.1_Silent_p.K567K|MAP1B_uc010iyx.1_Silent_p.K424K|MAP1B_uc010iyy.1_Silent_p.K424K	1	1			p.K550K	NM_005909	NP_005900			1	MAP1B_HUMAN	MAP1B	HGNC	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	D6RGJ3_HUMAN,D6RA40_HUMAN		5	1891	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	UPI000013E382	550					SNV	MAP1B,synonymous_variant,p.=,ENST00000296755,NM_005909.3;MAP1B,synonymous_variant,p.=,ENST00000504492,;MAP1B,synonymous_variant,p.=,ENST00000511641,;MAP1B,3_prime_UTR_variant,,ENST00000513526,;	uc003kbw.3	c.1650A>G	1948/12034	3	3			c.1650A>G						5	SNP	c.(1648-1650)AAA>AAG	9	9			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	Broad	microtubule-associated protein 1B			71490832		0.493	ENSG00000131711	9056	g.chr5:71490832A>G		microtubule|microtubule associated complex	structural molecule activity	Melanoma(17;367 822 11631 31730 47712)			Melanoma(17;367 822 11631 31730 47712)			50.042315	KEEP	6	10	-1	18	22	6	10	-1	50.522163	18	22	0.378378	1	0	0	0	0	0	0	1	0	--	--		0	G			MAP1B_uc010iyw.1_Silent_p.K567K|MAP1B_uc010iyx.1_Silent_p.K424K|MAP1B_uc010iyy.1_Silent_p.K424K	210	GBM-28-2502-TP	p.K550K	A	CAGCCGCAAAACCACTTCCTA	NM_005909	NP_005900	71490832	P46821	MAP1B_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	1891	+	G	G		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	Silent	550						
MAP1B	0	broad.mit.edu	GRCh37	5	71494424	71494424	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-41-5651-01	TCGA-41-5651-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296755.7:c.5242G>T	p.Asp1748Tyr	p.D1748Y	ENST00000296755	NM_005909.3	1748	Gat/Tat	0			1			T	D/Y	uc003kbw.3	protein_coding	YES	CCDS4012.1			5242/7407									large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	c.(5242-5244)GAT>TAT			hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF5	microtubule-associated protein 1B				ENSP00000296755		7-May									COSM3410392	7-May	.		ENST00000296755	Transcript				microtubule|microtubule associated complex	structural molecule activity	ENSG00000131711	g.chr5:71494424G>T	6836			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=MAP1B_HUMAN&rb=952&re=1864&var=D1748Y	NA	getma.org/?cm=var&var=hg19,5,71494424,G,T&fts=all	D1748Y	--	--	1																																		MAP1B_uc010iyw.1_Missense_Mutation_p.D1765Y|MAP1B_uc010iyx.1_Missense_Mutation_p.D1622Y|MAP1B_uc010iyy.1_Missense_Mutation_p.D1622Y	1	1		probably_damaging(0.909)	p.D1748Y	NM_005909	NP_005900			1	MAP1B_HUMAN	MAP1B	HGNC	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	D6RGJ3_HUMAN,D6RA40_HUMAN		5	5483	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	UPI000013E382	1748					SNV	MAP1B,missense_variant,p.Asp1748Tyr,ENST00000296755,NM_005909.3;MAP1B,downstream_gene_variant,,ENST00000504492,;MAP1B,downstream_gene_variant,,ENST00000511641,;MAP1B,downstream_gene_variant,,ENST00000513526,;	uc003kbw.3	c.5242G>T	5540/12034	2	2			c.5242G>T						5	SNP	c.(5242-5244)GAT>TAT	26	26			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	Broad	microtubule-associated protein 1B			71494424		0.478	ENSG00000131711	9056	g.chr5:71494424G>T		microtubule|microtubule associated complex	structural molecule activity	Melanoma(17;367 822 11631 31730 47712)			Melanoma(17;367 822 11631 31730 47712)			127.585413	KEEP	27	25	0.519230769	37	44	27	25	0.519230769	128.656765	37	44	0.398305	1	0	0	0	0	1	0	0	0	--	--		0	T			MAP1B_uc010iyw.1_Missense_Mutation_p.D1765Y|MAP1B_uc010iyx.1_Missense_Mutation_p.D1622Y|MAP1B_uc010iyy.1_Missense_Mutation_p.D1622Y	258	GBM-41-5651-TP	p.D1748Y	G	TCTCCAAGAAGATACTCTATC	NM_005909	NP_005900	71494424	P46821	MAP1B_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	5483	+	T	T		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	Missense_Mutation	1748						
MAP1S	55201	broad.mit.edu	GRCh37	19	17838511	17838511	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324096.4:c.2318G>A	p.Arg773Gln	p.R773Q	ENST00000324096	NM_018174.4	773	cGg/cAg	0		A:0.0008	1	A:0		A	R/Q	uc002nhe.1	protein_coding	YES	CCDS32954.1			2318/3180									central_nervous_system(1)	1	c.(2317-2319)CGG>CAG			hmmpanther:PTHR13843	BPY2 interacting protein 1		A:0		ENSP00000325313	A:0	7-May	8.26E-06	0.000129							rs540976741,COSM2151847	7-May	.		ENST00000324096	Transcript		A:0.0002	apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	ENSG00000130479	g.chr19:17838511G>A	15715			MODERATE		1.43	low	getma.org/?cm=msa&ty=f&p=MAP1S_HUMAN&rb=15&re=1057&var=R773Q	NA	getma.org/?cm=var&var=hg19,19,17838511,G,A&fts=all	R773Q	--	--	1																																		MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_Missense_Mutation_p.R21Q|MAP1S_uc010xpv.1_Missense_Mutation_p.R747Q	0,1	1		possibly_damaging(0.811)	p.R773Q	NM_018174	NP_060644	A:0	tolerated(0.68)	0,1	MAP1S_HUMAN	MAP1S	HGNC	Q66K74	MAP1S_HUMAN					5	2327	+			UPI00002036F9	773			Pro-rich.|Necessary for the microtubule-organizing center localization.|Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.		SNV	MAP1S,missense_variant,p.Arg773Gln,ENST00000324096,NM_018174.4;MAP1S,missense_variant,p.Arg747Gln,ENST00000544059,;MAP1S,intron_variant,,ENST00000597735,;MAP1S,intron_variant,,ENST00000597000,;MAP1S,downstream_gene_variant,,ENST00000600186,;MAP1S,downstream_gene_variant,,ENST00000594625,;CTD-3149D2.4,downstream_gene_variant,,ENST00000595363,;MAP1S,non_coding_transcript_exon_variant,,ENST00000597681,;MAP1S,downstream_gene_variant,,ENST00000601544,;MAP1S,downstream_gene_variant,,ENST00000599494,;MAP1S,upstream_gene_variant,,ENST00000598756,;MAP1S,downstream_gene_variant,,ENST00000594340,;MAP1S,downstream_gene_variant,,ENST00000595338,;MAP1S,downstream_gene_variant,,ENST00000598916,;MAP1S,downstream_gene_variant,,ENST00000597067,;MAP1S,downstream_gene_variant,,ENST00000594212,;MAP1S,downstream_gene_variant,,ENST00000594365,;MAP1S,downstream_gene_variant,,ENST00000598769,;MAP1S,downstream_gene_variant,,ENST00000596637,;MAP1S,downstream_gene_variant,,ENST00000593593,;MAP1S,downstream_gene_variant,,ENST00000600608,;	uc002nhe.1	c.2318G>A	2469/3419	2	2			c.2318G>A						19	SNP	c.(2317-2319)CGG>CAG	30	30			central_nervous_system(1)	1	Broad	BPY2 interacting protein 1			17838511		0.687	ENSG00000130479	9062	g.chr19:17838511G>A	apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding							29.076605	KEEP	7	8	-1	29	10	7	8	-1	30.968759	29	10	0.27907	1	0	0	0	0	1	0	0	0	--	--		0	A			MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_Missense_Mutation_p.R21Q|MAP1S_uc010xpv.1_Missense_Mutation_p.R747Q	68	GBM-06-0747-TP	p.R773Q	G	TCACAGGAACGGGCAGGTGGG	NM_018174	NP_060644	17838511	Q66K74	MAP1S_HUMAN	0			5	2327	+	A	A			Missense_Mutation	773			Pro-rich.|Necessary for the microtubule-organizing center localization.|Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.			
MAP1S	55201	broad.mit.edu	GRCh37	19	17844106	17844106	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0750-01	TCGA-06-0750-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324096.4:c.2893G>T	p.Glu965Ter	p.E965*	ENST00000324096	NM_018174.4	965	Gag/Tag	0			1			T	E/*	uc002nhe.1	protein_coding	YES	CCDS32954.1			2893/3180									central_nervous_system(1)	1	c.(2893-2895)GAG>TAG			hmmpanther:PTHR13843	BPY2 interacting protein 1				ENSP00000325313		7-Jun									COSM992888	7-Jun	.		ENST00000324096	Transcript			apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	ENSG00000130479	g.chr19:17844106G>T	15715			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,19,17844106,G,T&fts=all	E965*	--	--	1																																		MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_Nonsense_Mutation_p.E213*|MAP1S_uc010xpv.1_Nonsense_Mutation_p.E939*	1	1			p.E965*	NM_018174	NP_060644			1	MAP1S_HUMAN	MAP1S	HGNC	Q66K74	MAP1S_HUMAN					6	2902	+			UPI00002036F9	965			Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for association with microtubules.		SNV	MAP1S,stop_gained,p.Glu965Ter,ENST00000324096,NM_018174.4;MAP1S,stop_gained,p.Glu939Ter,ENST00000544059,;MAP1S,stop_gained,p.Glu26Ter,ENST00000597000,;MAP1S,missense_variant,p.Met172Ile,ENST00000597735,;CTD-3149D2.4,intron_variant,,ENST00000595363,;MAP1S,non_coding_transcript_exon_variant,,ENST00000598756,;MAP1S,non_coding_transcript_exon_variant,,ENST00000601097,;	uc002nhe.1	c.2893G>T	3044/3419	5	2			c.2893G>T						19	SNP	c.(2893-2895)GAG>TAG	38	38			central_nervous_system(1)	1	Broad	BPY2 interacting protein 1			17844106		0.697	ENSG00000130479	9062	g.chr19:17844106G>T	apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding							13.571952	KEEP	2	4	0.333333333	2	7	2	4	0.333333333	13.723633	2	7	0.384615	1	0	0	0	0	0	1	0	0	--	--		0	T			MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_Nonsense_Mutation_p.E213*|MAP1S_uc010xpv.1_Nonsense_Mutation_p.E939*	70	GBM-06-0750-TP	p.E965*	G	CCTGGTGGATGAGGAGTTCTT	NM_018174	NP_060644	17844106	Q66K74	MAP1S_HUMAN	0			6	2902	+	T	T			Nonsense_Mutation	965			Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for association with microtubules.			
MAP1S	0	broad.mit.edu	GRCh37	19	17844118	17844118	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324096.4:c.2905C>T	p.Gln969Ter	p.Q969*	ENST00000324096	NM_018174.4	969	Cag/Tag	0			1			T	Q/*	uc002nhe.1	protein_coding	YES	CCDS32954.1			2905/3180									central_nervous_system(1)	1	c.(2905-2907)CAG>TAG			hmmpanther:PTHR13843	BPY2 interacting protein 1				ENSP00000325313		7-Jun									COSM3403928	7-Jun	.		ENST00000324096	Transcript			apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	ENSG00000130479	g.chr19:17844118C>T	15715			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,19,17844118,C,T&fts=all	Q969*	--	--	1																																		MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_Nonsense_Mutation_p.Q217*|MAP1S_uc010xpv.1_Nonsense_Mutation_p.Q943*	1	1			p.Q969*	NM_018174	NP_060644			1	MAP1S_HUMAN	MAP1S	HGNC	Q66K74	MAP1S_HUMAN					6	2914	+			UPI00002036F9	969			Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the mitochondrial aggregation and genome destruction.		SNV	MAP1S,stop_gained,p.Gln969Ter,ENST00000324096,NM_018174.4;MAP1S,stop_gained,p.Gln943Ter,ENST00000544059,;MAP1S,stop_gained,p.Gln30Ter,ENST00000597000,;MAP1S,synonymous_variant,p.=,ENST00000597735,;CTD-3149D2.4,intron_variant,,ENST00000595363,;MAP1S,non_coding_transcript_exon_variant,,ENST00000598756,;MAP1S,non_coding_transcript_exon_variant,,ENST00000601097,;	uc002nhe.1	c.2905C>T	3056/3419	5	2			c.2905C>T						19	SNP	c.(2905-2907)CAG>TAG	25	25			central_nervous_system(1)	1	Broad	BPY2 interacting protein 1			17844118		0.687	ENSG00000130479	9062	g.chr19:17844118C>T	apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding							3.736318	KEEP	2	0	-1	7	12	2	0	-1	6.427604	7	12	0.111111	1	0	0	0	0	0	1	0	0	--	--		0	T			MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_Nonsense_Mutation_p.Q217*|MAP1S_uc010xpv.1_Nonsense_Mutation_p.Q943*	160	GBM-19-1790-TP	p.Q969*	C	GGAGTTCTTCCAGCGCGTGCG	NM_018174	NP_060644	17844118	Q66K74	MAP1S_HUMAN	0			6	2914	+	T	T			Nonsense_Mutation	969			Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the mitochondrial aggregation and genome destruction.			
MAP2	0	broad.mit.edu	GRCh37	2	210518141	210518141	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-27-1830-01	TCGA-27-1830-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360351.4:c.247G>C	p.Asp83His	p.D83H	ENST00000360351	NM_002374.3	83	Gac/Cac	0			1			C	D/H	uc002vde.1	protein_coding	YES	CCDS2384.1			247/5484									ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17	c.(247-249)GAC>CAC			hmmpanther:PTHR11501:SF15,hmmpanther:PTHR11501	microtubule-associated protein 2 isoform 1	Estramustine(DB01196)			ENSP00000353508		15-Apr									COSM3407528,COSM3407529	15-Apr	.		ENST00000360351	Transcript			central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	ENSG00000078018	g.chr2:210518141G>C	6839			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=MAP2_HUMAN&rb=1&re=85&var=D83H	NA	getma.org/?cm=var&var=hg19,2,210518141,G,C&fts=all	D83H	--	--	1																																		MAP2_uc002vdc.1_Missense_Mutation_p.D83H|MAP2_uc002vdd.1_Missense_Mutation_p.D83H|MAP2_uc002vdf.1_Missense_Mutation_p.D83H|MAP2_uc002vdg.1_Missense_Mutation_p.D83H|MAP2_uc002vdh.1_Missense_Mutation_p.D83H|MAP2_uc002vdi.1_Missense_Mutation_p.D83H	1,1	1		possibly_damaging(0.896)	p.D83H	NM_002374	NP_002365		tolerated_low_confidence(0.08)	1,1	MTAP2_HUMAN	MAP2	HGNC	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	A8MZ31_HUMAN		4	495	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	UPI000013D119	83					SNV	MAP2,missense_variant,p.Asp83His,ENST00000360351,NM_002374.3;MAP2,missense_variant,p.Asp83His,ENST00000447185,;MAP2,missense_variant,p.Asp83His,ENST00000392194,NM_031845.2,NM_031847.2;MAP2,missense_variant,p.Asp83His,ENST00000199940,NM_001039538.1;MAP2,missense_variant,p.Asp83His,ENST00000361559,;MAP2,missense_variant,p.Asp83His,ENST00000445941,;MAP2,missense_variant,p.Asp9His,ENST00000452717,;MAP2,missense_variant,p.Asp83His,ENST00000392193,;	uc002vde.1	c.247G>C	753/9711	3	3			c.247G>C						2	SNP	c.(247-249)GAC>CAC	3	3			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17	Broad	microtubule-associated protein 2 isoform 1		Estramustine(DB01196)	210518141		0.463	ENSG00000078018	9063	g.chr2:210518141G>C	central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	Pancreas(27;423 979 28787 29963)			Pancreas(27;423 979 28787 29963)			-22.959211	KEEP	4	1	-1	72	88	4	1	-1	12.382584	72	88	0.033557	1	0	0	0	0	1	0	0	0	--	--		0	C			MAP2_uc002vdc.1_Missense_Mutation_p.D83H|MAP2_uc002vdd.1_Missense_Mutation_p.D83H|MAP2_uc002vdf.1_Missense_Mutation_p.D83H|MAP2_uc002vdg.1_Missense_Mutation_p.D83H|MAP2_uc002vdh.1_Missense_Mutation_p.D83H|MAP2_uc002vdi.1_Missense_Mutation_p.D83H	189	GBM-27-1830-TP	p.D83H	G	GACCTCAGCTGACAGAGAAAC	NM_002374	NP_002365	210518141	P11137	MAP2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	4	495	+	C	C		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	Missense_Mutation	83						
MAP2K1	0	broad.mit.edu	GRCh37	15	66679706	66679706	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-41-2571-01	TCGA-41-2571-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307102.5:c.21delG	p.Ile9SerfsTer3	p.I9Sfs*3	ENST00000307102	NM_002755.3	7	acG/ac	0			1			-	T/X	uc010bhq.2	protein_coding	YES	CCDS10216.1			21/1182										0	c.(19-21)ACGfs			hmmpanther:PTHR24360,hmmpanther:PTHR24360:SF15	mitogen-activated protein kinase kinase 1				ENSP00000302486		11-Jan										11-Jan	.	Cardiofaciocutaneous_syndrome	ENST00000307102	Transcript	1		activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000169032	g.chr15:66679706delG	6840			HIGH								--	--	1																																				1			p.T7fs	NM_002755	NP_002746				MP2K1_HUMAN	MAP2K1	HGNC	Q02750	MP2K1_HUMAN			A4QPA9_HUMAN		1	496	+			UPI000013EBC9	7					deletion	MAP2K1,frameshift_variant,p.Ile9SerfsTer3,ENST00000307102,NM_002755.3;TIPIN,upstream_gene_variant,,ENST00000562124,;TIPIN,upstream_gene_variant,,ENST00000570251,;TIPIN,upstream_gene_variant,,ENST00000568216,;TIPIN,upstream_gene_variant,,ENST00000561773,;MAP2K1,non_coding_transcript_exon_variant,,ENST00000425818,;	uc010bhq.2	c.21delG	552/3410	5	5			c.21delG						15	DEL	c.(19-21)ACGfs	63	63				0	Broad	mitogen-activated protein kinase kinase 1			66679706	Cardiofaciocutaneous_syndrome	0.697	ENSG00000169032	9064	g.chr15:66679706delG	activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			667			667														0.33	1	1	0	1	0	0	0	0	0	--	--		0	-				250	GBM-41-2571-TP	p.T7fs	G	AGAAGCCGACGCCCATCCAGC	NM_002755	NP_002746	66679706	Q02750	MP2K1_HUMAN	0			1	496	+	-	-			Frame_Shift_Del	7						
MAP2K3	0	broad.mit.edu	GRCh37	17	21208414	21208414	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01	TCGA-12-1597-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342679.4:c.748G>A	p.Asp250Asn	p.D250N	ENST00000342679	NM_145109.2	250	Gac/Aac	0			1			A	D/N	uc002gys.2	protein_coding	YES	CCDS11217.1			748/1044										0	c.(748-750)GAC>AAC			Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF191,SMART_domains:SM00220,Superfamily_domains:SSF56112	mitogen-activated protein kinase kinase 3				ENSP00000345083		12-Sep	4.12E-05					4.50E-05		0.000121	rs759303256,COSM3402669,COSM3402668	12-Sep	.		ENST00000342679	Transcript			activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000034152	g.chr17:21208414G>A	6843			MODERATE		4.895	high	getma.org/?cm=msa&ty=f&p=MP2K3_HUMAN&rb=64&re=325&var=D250N	getma.org/pdb.php?prot=MP2K3_HUMAN&from=64&to=325&var=D250N	getma.org/?cm=var&var=hg19,17,21208414,G,A&fts=all	D250N	--	--	1																																		MAP2K3_uc002gyt.2_Missense_Mutation_p.D221N|MAP2K3_uc002gyu.2_Missense_Mutation_p.D221N	0,1,1	1		probably_damaging(0.927)	p.D250N	NM_145109	NP_659731		deleterious(0.02)	0,1,1	MP2K3_HUMAN	MAP2K3	HGNC	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	Q6FI23_HUMAN,E9PRZ0_HUMAN,D3DXI2_HUMAN		9	1013	+			UPI000012F48C	250			Protein kinase.		SNV	MAP2K3,missense_variant,p.Asp250Asn,ENST00000342679,NM_145109.2;MAP2K3,missense_variant,p.Asp221Asn,ENST00000361818,NM_002756.4;MAP2K3,missense_variant,p.Asp221Asn,ENST00000316920,;MAP2K3,downstream_gene_variant,,ENST00000526076,;MAP2K3,3_prime_UTR_variant,,ENST00000395491,;MAP2K3,3_prime_UTR_variant,,ENST00000496046,;MAP2K3,downstream_gene_variant,,ENST00000583508,;MAP2K3,downstream_gene_variant,,ENST00000479129,;	uc002gys.2	c.748G>A	997/2303	2	2			c.748G>A						17	SNP	c.(748-750)GAC>AAC	33	33				0	Broad	mitogen-activated protein kinase kinase 3			21208414		0.577	ENSG00000034152	9066	g.chr17:21208414G>A	activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			346			346	-33.914359	KEEP	3	3	-1	114	101	3	3	-1	11.705431	114	101	0.031579	1	0	0	0	0	1	0	0	0	--	--		0	A			MAP2K3_uc002gyt.2_Missense_Mutation_p.D221N|MAP2K3_uc002gyu.2_Missense_Mutation_p.D221N	124	GBM-12-1597-TP	p.D250N	G	TGTCAAGTCCGACGTCTGGAG	NM_145109	NP_659731	21208414	P46734	MP2K3_HUMAN	0		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	9	1013	+	A	A			Missense_Mutation	250			Protein kinase.			
MAP2K3	0	broad.mit.edu	GRCh37	17	21206533	21206533	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-3476-01	TCGA-14-3476-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342679.4:c.555G>A	p.Ser185=	p.S185=	ENST00000342679	NM_145109.2	185	tcG/tcA	0			1			A	S	uc002gys.2	protein_coding	YES	CCDS11217.1			555/1044										0	c.(553-555)TCG>TCA			Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF191,SMART_domains:SM00220,Superfamily_domains:SSF56112	mitogen-activated protein kinase kinase 3				ENSP00000345083		12-Jul	9.06E-05		0.000174	0.000116		3.02E-05		0.000365	rs752706180,COSM2798861,COSM2798860	12-Jul	.		ENST00000342679	Transcript			activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000034152	g.chr17:21206533G>A	6843			LOW								--	--	1																																		MAP2K3_uc002gyt.2_Silent_p.S156S|MAP2K3_uc002gyu.2_Silent_p.S156S	0,1,1	1			p.S185S	NM_145109	NP_659731			0,1,1	MP2K3_HUMAN	MAP2K3	HGNC	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	Q6FI23_HUMAN,E9PRZ0_HUMAN,D3DXI2_HUMAN		7	820	+			UPI000012F48C	185			Protein kinase.		SNV	MAP2K3,synonymous_variant,p.=,ENST00000342679,NM_145109.2;MAP2K3,synonymous_variant,p.=,ENST00000361818,NM_002756.4;MAP2K3,synonymous_variant,p.=,ENST00000316920,;MAP2K3,synonymous_variant,p.=,ENST00000526076,;MAP2K3,3_prime_UTR_variant,,ENST00000395491,;MAP2K3,intron_variant,,ENST00000496046,;MAP2K3,downstream_gene_variant,,ENST00000583508,;MAP2K3,downstream_gene_variant,,ENST00000479129,;MAP2K3,downstream_gene_variant,,ENST00000483928,;	uc002gys.2	c.555G>A	804/2303	2	2			c.555G>A						17	SNP	c.(553-555)TCG>TCA	33	33				0	Broad	mitogen-activated protein kinase kinase 3			21206533		0.622	ENSG00000034152	9066	g.chr17:21206533G>A	activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity		p.S185S(NALM6-Tumor)	346		p.S185S(NALM6-Tumor)	346	15.738528	KEEP	6	3	-1	26	35	6	3	-1	22.783759	26	35	0.15	1	0	0	0	0	0	0	1	0	--	--		0	A			MAP2K3_uc002gyt.2_Silent_p.S156S|MAP2K3_uc002gyu.2_Silent_p.S156S	151	GBM-14-3476-TP	p.S185S	G	GCAAGCTGTCGGTGATCCACA	NM_145109	NP_659731	21206533	P46734	MP2K3_HUMAN	0		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	7	820	+	A	A			Silent	185			Protein kinase.			
MAP2K3	5606		GRCh37	17	21205510	21205510	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000342679.4:c.455G>A	p.Arg152Gln	p.R152Q	ENST00000342679	NM_145109.2	152	cGg/cAg	0																																																																																																																																																																																																																																												
MAP2K3	5606		GRCh37	17	21201792	21201792	+	splice_donor_variant	Splice_Site	SNP	G	G	A			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000342679.4:c.116+1G>A		p.X39_splice	ENST00000342679	NM_145109.2	39		0																																																																																																																																																																																																																																												
MAP2K7	5609	broad.mit.edu	GRCh37	19	7975352	7975352	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397979.3:c.462C>T	p.Ser154=	p.S154=	ENST00000397979	NM_145185.2	154	tcC/tcT	0	T:0.0002		1			T	S	uc002mit.2	protein_coding	YES	CCDS42491.1			462/1260									large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11	c.(460-462)TCC>TCT			PROSITE_profiles:PS50011,hmmpanther:PTHR24360,hmmpanther:PTHR24360:SF3,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	mitogen-activated protein kinase kinase 7	Etoposide(DB00773)		T:0.0001	ENSP00000381066		11-May	0.000116	0.000143				8.07E-05		0.000509	rs373551377,COSM3404794,COSM3404793	11-May	common_variant		ENST00000397979	Transcript			activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000076984	g.chr19:7975352C>T	6847			LOW								--	--	1																																		MAP2K7_uc002miv.2_Silent_p.S154S|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Silent_p.S154S|MAP2K7_uc010dvv.2_Silent_p.S29S	0,1,1	1			p.S154S	NM_145185	NP_660186			0,1,1	MP2K7_HUMAN	MAP2K7	HGNC	O14733	MP2K7_HUMAN			D6W660_HUMAN		5	527	+			UPI000012F494	154			Protein kinase.		SNV	MAP2K7,synonymous_variant,p.=,ENST00000545011,;MAP2K7,synonymous_variant,p.=,ENST00000397981,;MAP2K7,synonymous_variant,p.=,ENST00000397983,;MAP2K7,synonymous_variant,p.=,ENST00000397979,NM_145185.2;CTD-3193O13.13,downstream_gene_variant,,ENST00000595655,;MAP2K7,non_coding_transcript_exon_variant,,ENST00000468058,;MAP2K7,non_coding_transcript_exon_variant,,ENST00000494348,;MAP2K7,non_coding_transcript_exon_variant,,ENST00000465324,;MAP2K7,downstream_gene_variant,,ENST00000475022,;MAP2K7,upstream_gene_variant,,ENST00000498118,;	uc002mit.2	c.462C>T	516/3361	2	2			c.462C>T						19	SNP	c.(460-462)TCC>TCT	20	20			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11	Broad	mitogen-activated protein kinase kinase 7		Etoposide(DB00773)	7975352		0.632	ENSG00000076984	9070	g.chr19:7975352C>T	activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			108			108	17.807887	KEEP	4	4	-1	14	16	4	4	-1	20.334882	14	16	0.212121	1	0	0	0	0	0	0	1	0	--	--		0	T			MAP2K7_uc002miv.2_Silent_p.S154S|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Silent_p.S154S|MAP2K7_uc010dvv.2_Silent_p.S29S	46	GBM-06-0209-TP	p.S154S	C	TGCGGCGCTCCGGGAACAAGG	NM_145185	NP_660186	7975352	O14733	MP2K7_HUMAN	0			5	527	+	T	T			Silent	154			Protein kinase.			
MAP3K1	4214	broad.mit.edu	GRCh37	5	56168509	56168509	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399503.3:c.1465C>T	p.Pro489Ser	p.P489S	ENST00000399503	NM_005921.1	489	Ccc/Tcc	0			1			T	P/S	uc003jqw.3	protein_coding	YES	CCDS43318.1			1465/4539									ovary(1)|skin(1)	2	c.(1465-1467)CCC>TCC			PROSITE_profiles:PS50089,hmmpanther:PTHR24361:SF255,hmmpanther:PTHR24361,Gene3D:3.30.40.10,Superfamily_domains:SSF57850	mitogen-activated protein kinase kinase kinase				ENSP00000382423		20-Aug									COSM3410329,COSM3410328	20-Aug	.		ENST00000399503	Transcript	1		cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	ENSG00000095015	g.chr5:56168509C>T	6848			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=M3K1_HUMAN&rb=464&re=1242&var=P489S	NA	getma.org/?cm=var&var=hg19,5,56168509,C,T&fts=all	P489S	--	--	1																																			1,1	1		probably_damaging(0.974)	p.P489S	NM_005921	NP_005912		deleterious(0)	1,1	M3K1_HUMAN	MAP3K1	HGNC	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)			8	1966	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	UPI000015153B	489			RING-type.		SNV	MAP3K1,missense_variant,p.Pro489Ser,ENST00000399503,NM_005921.1;	uc003jqw.3	c.1465C>T	1465/7011	1	1			c.1465C>T						5	SNP	c.(1465-1467)CCC>TCC	8	8			ovary(1)|skin(1)	2	Broad	mitogen-activated protein kinase kinase kinase			56168509		0.279	ENSG00000095015	9071	g.chr5:56168509C>T	cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			201			201	11.780177	KEEP	4	6	-1	56	42	4	6	-1	25.239788	56	42	0.111111	1	0	0	0	0	1	0	0	0	--	--		0	T				65	GBM-06-0743-TP	p.P489S	C	TTTAATATGTCCCCTTTGTAG	NM_005921	NP_005912	56168509	Q13233	M3K1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	8	1966	+	T	T		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	Missense_Mutation	489			RING-type.			
MAP3K1	4214	broad.mit.edu	GRCh37	5	56168506	56168506	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-2559-01	TCGA-06-2559-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399503.3:c.1462T>C	p.Cys488Arg	p.C488R	ENST00000399503	NM_005921.1	488	Tgt/Cgt	0			1			C	C/R	uc003jqw.3	protein_coding	YES	CCDS43318.1			1462/4539									ovary(1)|skin(1)	2	c.(1462-1464)TGT>CGT			PROSITE_profiles:PS50089,hmmpanther:PTHR24361:SF255,hmmpanther:PTHR24361,Gene3D:3.30.40.10,Superfamily_domains:SSF57850	mitogen-activated protein kinase kinase kinase				ENSP00000382423		20-Aug									COSM2152658	20-Aug	.		ENST00000399503	Transcript	1		cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	ENSG00000095015	g.chr5:56168506T>C	6848			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=M3K1_HUMAN&rb=464&re=1242&var=C488R	NA	getma.org/?cm=var&var=hg19,5,56168506,T,C&fts=all	C488R	--	--	1																																			1	1		probably_damaging(0.981)	p.C488R	NM_005921	NP_005912		deleterious(0)	1	M3K1_HUMAN	MAP3K1	HGNC	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)			8	1963	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	UPI000015153B	488			RING-type.		SNV	MAP3K1,missense_variant,p.Cys488Arg,ENST00000399503,NM_005921.1;	uc003jqw.3	c.1462T>C	1462/7011	4	4			c.1462T>C						5	SNP	c.(1462-1464)TGT>CGT	45	45			ovary(1)|skin(1)	2	Broad	mitogen-activated protein kinase kinase kinase			56168506		0.279	ENSG00000095015	9071	g.chr5:56168506T>C	cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			201			201	197.752198	KEEP	40	29	-1	61	40	40	29	-1	198.679541	61	40	0.414966	1	0	0	0	0	1	0	0	0	--	--		0	C				83	GBM-06-2559-TP	p.C488R	T	ACCTTTAATATGTCCCCTTTG	NM_005921	NP_005912	56168506	Q13233	M3K1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	8	1963	+	C	C		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	Missense_Mutation	488			RING-type.			
MAP3K1	4214	broad.mit.edu	GRCh37	5	56177898	56177898	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-2570-01	TCGA-06-2570-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399503.3:c.2871A>G	p.Gln957=	p.Q957=	ENST00000399503	NM_005921.1	957	caA/caG	0			1			G	Q	uc003jqw.3	protein_coding	YES	CCDS43318.1			2871/4539									ovary(1)|skin(1)	2	c.(2869-2871)CAA>CAG			hmmpanther:PTHR24361:SF255,hmmpanther:PTHR24361	mitogen-activated protein kinase kinase kinase				ENSP00000382423		14/20									COSM2153123,COSM2153122	14/20	.		ENST00000399503	Transcript	1		cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	ENSG00000095015	g.chr5:56177898A>G	6848			LOW								--	--	1																																			1,1	1			p.Q957Q	NM_005921	NP_005912			1,1	M3K1_HUMAN	MAP3K1	HGNC	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)			14	3372	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	UPI000015153B	957					SNV	MAP3K1,synonymous_variant,p.=,ENST00000399503,NM_005921.1;MAP3K1,upstream_gene_variant,,ENST00000469188,;	uc003jqw.3	c.2871A>G	2871/7011	3	3			c.2871A>G						5	SNP	c.(2869-2871)CAA>CAG	6	6			ovary(1)|skin(1)	2	Broad	mitogen-activated protein kinase kinase kinase			56177898		0.398	ENSG00000095015	9071	g.chr5:56177898A>G	cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			201			201	263.912089	KEEP	33	42	-1	34	58	33	42	-1	264.352121	34	58	0.44375	1	0	0	0	0	0	0	1	0	--	--		0	G				91	GBM-06-2570-TP	p.Q957Q	A	CAATGGTTCAAACAAAAGGCA	NM_005921	NP_005912	56177898	Q13233	M3K1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	14	3372	+	G	G		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	Silent	957						
MAP3K1	0	broad.mit.edu	GRCh37	5	56179395	56179395	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-2573-01	TCGA-41-2573-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399503.3:c.3708G>A	p.Pro1236=	p.P1236=	ENST00000399503	NM_005921.1	1236	ccG/ccA	0			1			A	P	uc003jqw.3	protein_coding	YES	CCDS43318.1			3708/4539									ovary(1)|skin(1)	2	c.(3706-3708)CCG>CCA			hmmpanther:PTHR24361:SF255,hmmpanther:PTHR24361,Gene3D:3.30.200.20	mitogen-activated protein kinase kinase kinase				ENSP00000382423		15/20	1.66E-05					1.50E-05		6.06E-05	rs774493506,COSM3410333,COSM3410332	15/20	.		ENST00000399503	Transcript	1		cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	ENSG00000095015	g.chr5:56179395G>A	6848			LOW								--	--	1																																			0,1,1	1			p.P1236P	NM_005921	NP_005912			0,1,1	M3K1_HUMAN	MAP3K1	HGNC	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)			15	4209	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	UPI000015153B	1236					SNV	MAP3K1,synonymous_variant,p.=,ENST00000399503,NM_005921.1;MAP3K1,upstream_gene_variant,,ENST00000469188,;	uc003jqw.3	c.3708G>A	3708/7011	1	1			c.3708G>A						5	SNP	c.(3706-3708)CCG>CCA	60	60			ovary(1)|skin(1)	2	Broad	mitogen-activated protein kinase kinase kinase			56179395		0.383	ENSG00000095015	9071	g.chr5:56179395G>A	cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			201			201	126.359858	KEEP	23	20	-1	27	40	23	20	-1	127.294331	27	40	0.398058	1	0	0	0	0	0	0	1	0	--	--		0	A				252	GBM-41-2573-TP	p.P1236P	G	CAAAACAACCGTATAGAGAAG	NM_005921	NP_005912	56179395	Q13233	M3K1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	15	4209	+	A	A		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	Silent	1236						
MAP3K11	4296		GRCh37	11	65375157	65375157	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000309100.3:c.1200G>A	p.Lys400=	p.K400=	ENST00000309100	NM_002419.3	400	aaG/aaA	0																																																																																																																																																																																																																																												
MAP3K12	7786	broad.mit.edu	GRCh37	12	53875972	53875972	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149876591		TCGA-06-0877-01	TCGA-06-0877-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000547035.1:c.2333G>A	p.Arg778His	p.R778H	ENST00000547035		778	cGc/cAc	0	T:0		1			T	R/H	uc001sdm.1	protein_coding		CCDS8860.1			2234/2580									lung(2)|ovary(1)|breast(1)|skin(1)	5	c.(2233-2235)CGC>CAC			PIRSF_domain:PIRSF500741,PIRSF_domain:PIRSF038165	mitogen-activated protein kinase kinase kinase			T:0.0001	ENSP00000267079		14/15	8.24E-05		0.000259			7.49E-05		0.000121	rs149876591,COSM941014,COSM1586585	14/15	.		ENST00000267079	Transcript			histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	ENSG00000139625	g.chr12:53875972C>T	6851			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=M3K12_HUMAN&rb=413&re=857&var=R745H	NA	getma.org/?cm=var&var=hg19,12,53875972,C,T&fts=all	R745H	--	--	1																																OREG0021873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	MAP3K12_uc001sdn.1_Missense_Mutation_p.R778H	0,1,1			benign(0.41)	p.R745H	NM_006301	NP_006292		tolerated_low_confidence(0.16)	0,1,1	M3K12_HUMAN	MAP3K12	HGNC	Q12852	M3K12_HUMAN			H3BMF0_HUMAN		14	2332	-			UPI00000730A5	745					SNV	MAP3K12,missense_variant,p.Arg745His,ENST00000267079,NM_006301.3,NM_001193511.1;MAP3K12,missense_variant,p.Arg778His,ENST00000547035,;MAP3K12,missense_variant,p.Arg778His,ENST00000547488,;PCBP2,downstream_gene_variant,,ENST00000603815,NM_001128912.1,NM_001128911.1,NM_005016.5,NM_031989.4;PCBP2,downstream_gene_variant,,ENST00000447282,NM_001128913.1,NM_001098620.2;PCBP2,downstream_gene_variant,,ENST00000437231,NM_001128914.1;PCBP2,downstream_gene_variant,,ENST00000455667,;PCBP2,downstream_gene_variant,,ENST00000547859,;PCBP2,downstream_gene_variant,,ENST00000359462,;PCBP2,downstream_gene_variant,,ENST00000359282,;PCBP2,downstream_gene_variant,,ENST00000549863,;PCBP2,downstream_gene_variant,,ENST00000546463,;PCBP2,downstream_gene_variant,,ENST00000552819,;PCBP2,downstream_gene_variant,,ENST00000552296,;PCBP2,downstream_gene_variant,,ENST00000439930,;PCBP2,downstream_gene_variant,,ENST00000548933,;PCBP2,downstream_gene_variant,,ENST00000562264,;MAP3K12,downstream_gene_variant,,ENST00000547151,;MAP3K12,3_prime_UTR_variant,,ENST00000552365,;MAP3K12,non_coding_transcript_exon_variant,,ENST00000547020,;MAP3K12,non_coding_transcript_exon_variant,,ENST00000551511,;PCBP2,downstream_gene_variant,,ENST00000550585,;PCBP2,downstream_gene_variant,,ENST00000547048,;PCBP2,downstream_gene_variant,,ENST00000550733,;MAP3K12,downstream_gene_variant,,ENST00000551895,;MAP3K12,downstream_gene_variant,,ENST00000548690,;MAP3K12,downstream_gene_variant,,ENST00000547803,;	uc001sdm.1	c.2234G>A	2460/3492	2	2			c.2234G>A						12	SNP	c.(2233-2235)CGC>CAC	42	42			lung(2)|ovary(1)|breast(1)|skin(1)	5	Broad	mitogen-activated protein kinase kinase kinase			53875972		0.512	ENSG00000139625	9074	g.chr12:53875972C>T	histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			178			178	470.976343	KEEP	83	84	-1	86	79	83	84	-1	471.002944	86	79	0.51	1	0	0	0	0	1	0	0	0	--	--		0	T	OREG0021873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	MAP3K12_uc001sdn.1_Missense_Mutation_p.R778H	73	GBM-06-0877-TP	p.R745H	C	TAGTGACTGGCGCATGTTCAG	NM_006301	NP_006292	53875972	Q12852	M3K12_HUMAN	0			14	2332	-	T	T			Missense_Mutation	745						
MAP3K13	9175	broad.mit.edu	GRCh37	3	185165672	185165672	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0744-01	TCGA-06-0744-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265026.3:c.947C>A	p.Thr316Lys	p.T316K	ENST00000265026	NM_004721.4	316	aCg/aAg	0			1			A	T/K	uc010hyf.2	protein_coding	YES	CCDS3270.1			947/2901									ovary(2)|skin(1)	3	c.(946-948)ACG>AAG			PROSITE_profiles:PS50011,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF336,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00220,PIRSF_domain:PIRSF038165,PIRSF_domain:PIRSF500742,Superfamily_domains:SSF56112,Prints_domain:PR00109	mitogen-activated protein kinase kinase kinase				ENSP00000265026		14-May									COSM3408491,COSM3408492,COSM3408493	14-May	.		ENST00000265026	Transcript			activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	ENSG00000073803	g.chr3:185165672C>A	6852			MODERATE		2.64	medium	getma.org/?cm=msa&ty=f&p=M3K13_HUMAN&rb=168&re=407&var=T316K	getma.org/pdb.php?prot=M3K13_HUMAN&from=168&to=407&var=T316K	getma.org/?cm=var&var=hg19,3,185165672,C,A&fts=all	T316K	--	--	1																																		MAP3K13_uc011brt.1_Missense_Mutation_p.T109K|MAP3K13_uc003fph.3_Missense_Mutation_p.T84K|MAP3K13_uc011bru.1_Missense_Mutation_p.T172K|MAP3K13_uc003fpi.2_Missense_Mutation_p.T316K|MAP3K13_uc010hyg.2_Missense_Mutation_p.T6K	1,1,1	1		probably_damaging(0.999)	p.T316K	NM_004721	NP_004712		deleterious(0)	1,1,1	M3K13_HUMAN	MAP3K13	HGNC	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		C9JP65_HUMAN,C9J4W2_HUMAN		6	1213	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		UPI000006CF91	316			Protein kinase.		SNV	MAP3K13,missense_variant,p.Thr316Lys,ENST00000265026,NM_004721.4;MAP3K13,missense_variant,p.Thr316Lys,ENST00000424227,NM_001242314.1;MAP3K13,missense_variant,p.Thr172Lys,ENST00000443863,;MAP3K13,missense_variant,p.Thr172Lys,ENST00000535426,;MAP3K13,missense_variant,p.Thr109Lys,ENST00000446828,NM_001242317.1;MAP3K13,missense_variant,p.Thr61Lys,ENST00000420577,;MAP3K13,3_prime_UTR_variant,,ENST00000438053,;MAP3K13,3_prime_UTR_variant,,ENST00000433092,;MAP3K13,3_prime_UTR_variant,,ENST00000439882,;MAP3K13,downstream_gene_variant,,ENST00000477582,;	uc010hyf.2	c.947C>A	1281/9876	1	1			c.947C>A						3	SNP	c.(946-948)ACG>AAG	58	58			ovary(2)|skin(1)	3	Broad	mitogen-activated protein kinase kinase kinase			185165672		0.443	ENSG00000073803	9075	g.chr3:185165672C>A	activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			296			296	-7.906046	KEEP	2	1	0.333333333	39	27	2	1	0.333333333	6.356515	39	27	0.046154	1	0	0	0	0	1	0	0	0	--	--		0	A			MAP3K13_uc011brt.1_Missense_Mutation_p.T109K|MAP3K13_uc003fph.3_Missense_Mutation_p.T84K|MAP3K13_uc011bru.1_Missense_Mutation_p.T172K|MAP3K13_uc003fpi.2_Missense_Mutation_p.T316K|MAP3K13_uc010hyg.2_Missense_Mutation_p.T6K	66	GBM-06-0744-TP	p.T316K	C	TTTGCTGGCACGGTCGCATGG	NM_004721	NP_004712	185165672	O43283	M3K13_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		6	1213	+	A	A	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		Missense_Mutation	316			Protein kinase.			
MAP3K15	389840	broad.mit.edu	GRCh37	X	19431486	19431486	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0238-01	TCGA-06-0238-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338883.4:c.1687C>A	p.Pro563Thr	p.P563T	ENST00000338883	NM_001001671.3	563	Ccc/Acc	0			1			T	P/T	uc004czk.1	protein_coding	YES				1687/3942									ovary(3)|lung(2)|stomach(1)|skin(1)	7	c.(13-15)ACC>AAC			hmmpanther:PTHR11584,hmmpanther:PTHR11584:SF363	mitogen-activated protein kinase kinase kinase				ENSP00000345629		29-Nov									COSM3406221,COSM3406220	29-Nov	.		ENST00000338883	Transcript					ATP binding|MAP kinase kinase kinase activity|metal ion binding	ENSG00000180815	g.chrX:19431486G>T	31689			MODERATE		2.67	medium	getma.org/?cm=msa&ty=f&p=M3K15_HUMAN&rb=516&re=653&var=P563T	NA	getma.org/?cm=var&var=hg19,X,19431486,G,T&fts=all	P563T	--	--	1																																		MAP3K15_uc004czj.1_5'UTR	1,1	1		possibly_damaging(0.845)	p.T5N	NM_001001671	NP_001001671		deleterious(0.01)	1,1	M3K15_HUMAN	MAP3K15	HGNC	Q6ZN16	M3K15_HUMAN			E7EWI5_HUMAN		11	1651	-	Hepatocellular(33;0.183)		UPI0000E444D0	Error:Variant_position_missing_in_Q6ZN16_after_alignment					SNV	MAP3K15,missense_variant,p.Pro563Thr,ENST00000338883,NM_001001671.3;MAP3K15,missense_variant,p.Pro395Thr,ENST00000469203,;MAP3K15,5_prime_UTR_variant,,ENST00000359173,;MAP3K15,non_coding_transcript_exon_variant,,ENST00000518578,;	uc004czk.1	c.14C>A	1687/4635	1	1			c.14C>A						23	SNP	c.(13-15)ACC>AAC	10	10			ovary(3)|lung(2)|stomach(1)|skin(1)	7	Broad	mitogen-activated protein kinase kinase kinase			19431486		0.398	ENSG00000180815	9077	g.chrX:19431486G>T			ATP binding|MAP kinase kinase kinase activity|metal ion binding							411.22058	KEEP	75	65	0.535714286	33	30	75	65	0.535714286	415.780745	33	30	0.670455	1	0	0	0	0	1	0	0	0	--	--		0	T			MAP3K15_uc004czj.1_5'UTR	55	GBM-06-0238-TP	p.T5N	G	ATTTCTGTGGGTGAGACATGC	NM_001001671	NP_001001671	19431486	Q6ZN16	M3K15_HUMAN	0			11	1651	-	T	T	Hepatocellular(33;0.183)		Missense_Mutation	Error:Variant_position_missing_in_Q6ZN16_after_alignment						
MAP3K15	0	broad.mit.edu	GRCh37	X	19391804	19391804	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01	TCGA-14-1450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338883.4:c.2783G>A	p.Arg928His	p.R928H	ENST00000338883	NM_001001671.3	928	cGc/cAc	0	T:0		1			T	R/H	uc004czk.1	protein_coding	YES				2783/3942									ovary(3)|lung(2)|stomach(1)|skin(1)	7	c.(1207-1209)CGC>CAC			hmmpanther:PTHR11584,hmmpanther:PTHR11584:SF363,Superfamily_domains:SSF56112	mitogen-activated protein kinase kinase kinase			T:0.0001	ENSP00000345629		21/29	2.48E-05		0.000178					0.000153	rs369415318,COSM3406219,COSM3406218	21/29	.		ENST00000338883	Transcript					ATP binding|MAP kinase kinase kinase activity|metal ion binding	ENSG00000180815	g.chrX:19391804C>T	31689			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=M3K15_HUMAN&rb=909&re=943&var=R928H	NA	getma.org/?cm=var&var=hg19,X,19391804,C,T&fts=all	R928H	--	--	1																																		MAP3K15_uc004czj.1_Missense_Mutation_p.R363H|MAP3K15_uc004czi.1_5'Flank	0,1,1	1		benign(0.002)	p.R403H	NM_001001671	NP_001001671		tolerated(0.08)	0,1,1	M3K15_HUMAN	MAP3K15	HGNC	Q6ZN16	M3K15_HUMAN			E7EWI5_HUMAN		22	2845	-	Hepatocellular(33;0.183)		UPI0000E444D0	928					SNV	MAP3K15,missense_variant,p.Arg928His,ENST00000338883,NM_001001671.3;MAP3K15,missense_variant,p.Arg363His,ENST00000359173,;MAP3K15,missense_variant,p.Arg760His,ENST00000469203,;Y_RNA,upstream_gene_variant,,ENST00000365274,;MAP3K15,non_coding_transcript_exon_variant,,ENST00000518578,;MAP3K15,upstream_gene_variant,,ENST00000470101,;	uc004czk.1	c.1208G>A	2783/4635	1	1			c.1208G>A						23	SNP	c.(1207-1209)CGC>CAC	3	3			ovary(3)|lung(2)|stomach(1)|skin(1)	7	Broad	mitogen-activated protein kinase kinase kinase			19391804		0.677	ENSG00000180815	9077	g.chrX:19391804C>T			ATP binding|MAP kinase kinase kinase activity|metal ion binding							6.175006	KEEP	5	5	-1	26	27	5	5	-1	13.2076	26	27	0.12	1	0	0	0	0	1	0	0	0	--	--		0	T			MAP3K15_uc004czj.1_Missense_Mutation_p.R363H|MAP3K15_uc004czi.1_5'Flank	145	GBM-14-1450-TP	p.R403H	C	GACGACACCGCGGGGACCTTC	NM_001001671	NP_001001671	19391804	Q6ZN16	M3K15_HUMAN	0			22	2845	-	T	T	Hepatocellular(33;0.183)		Missense_Mutation	928						
MAP3K19	0	broad.mit.edu	GRCh37	2	135745418	135745418	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01	TCGA-06-6695-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375845.3:c.1024C>T	p.Pro342Ser	p.P342S	ENST00000375845	NM_025052.3	342	Cct/Tct	0			1			A	P/S	uc002tue.1	protein_coding	YES	CCDS2176.2			1024/3987									stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5	c.(1024-1026)CCT>TCT			hmmpanther:PTHR24361:SF129,hmmpanther:PTHR24361	Yeast Sps1/Ste20-related kinase 4 isoform 1				ENSP00000365005		10-Jul	8.24E-06					1.50E-05			rs746658931,COSM3406886	10-Jul	.		ENST00000375845	Transcript					ATP binding|protein serine/threonine kinase activity	ENSG00000176601	g.chr2:135745418G>A	26249			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=YSK4_HUMAN&rb=211&re=429&var=P342S	NA	getma.org/?cm=var&var=hg19,2,135745418,G,A&fts=all	P342S	--	--	1																																		YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.P229S|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.P70S|YSK4_uc002tui.3_Missense_Mutation_p.P359S	0,1	1		benign(0.043)	p.P342S	NM_025052	NP_079328		tolerated(0.33)	0,1	M3K19_HUMAN	MAP3K19	HGNC	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	H7C041_HUMAN,C9JGQ2_HUMAN,C9JEJ9_HUMAN		7	1055	-			UPI00004F77F2	342					SNV	MAP3K19,missense_variant,p.Pro342Ser,ENST00000375845,NM_025052.3;MAP3K19,missense_variant,p.Pro359Ser,ENST00000392915,;MAP3K19,missense_variant,p.Pro229Ser,ENST00000358371,NM_001018044.2;MAP3K19,5_prime_UTR_variant,,ENST00000315513,;MAP3K19,intron_variant,,ENST00000375844,NM_001018046.1;MAP3K19,intron_variant,,ENST00000392918,NM_001018047.2;MAP3K19,intron_variant,,ENST00000392917,NM_001282883.1;MAP3K19,upstream_gene_variant,,ENST00000437365,;MAP3K19,downstream_gene_variant,,ENST00000468155,;MAP3K19,upstream_gene_variant,,ENST00000478805,;	uc002tue.1	c.1024C>T	1055/4377	2	2			c.1024C>T						2	SNP	c.(1024-1026)CCT>TCT	21	21			stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5	Broad	Yeast Sps1/Ste20-related kinase 4 isoform 1			135745418		0.368	ENSG00000176601	17239	g.chr2:135745418G>A			ATP binding|protein serine/threonine kinase activity			411			411	58.495877	KEEP	11	9	-1	8	16	11	9	-1	58.516624	8	16	0.47619	1	0	0	0	0	1	0	0	0	--	--		0	A			YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.P229S|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.P70S|YSK4_uc002tui.3_Missense_Mutation_p.P359S	110	GBM-06-6695-TP	p.P342S	G	CTAACTGCAGGAATATTGCCT	NM_025052	NP_079328	135745418	Q56UN5	YSK4_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.112)	7	1055	-	A	A			Missense_Mutation	342						
MAP3K19	0	broad.mit.edu	GRCh37	2	135745654	135745654	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-19-2625-01	TCGA-19-2625-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375845.3:c.788A>C	p.Glu263Ala	p.E263A	ENST00000375845	NM_025052.3	263	gAg/gCg	0			1			G	E/A	uc002tue.1	protein_coding	YES	CCDS2176.2			788/3987									stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5	c.(787-789)GAG>GCG			hmmpanther:PTHR24361:SF129,hmmpanther:PTHR24361	Yeast Sps1/Ste20-related kinase 4 isoform 1				ENSP00000365005		10-Jul									COSM3406887	10-Jul	.		ENST00000375845	Transcript					ATP binding|protein serine/threonine kinase activity	ENSG00000176601	g.chr2:135745654T>G	26249			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=YSK4_HUMAN&rb=211&re=429&var=E263A	NA	getma.org/?cm=var&var=hg19,2,135745654,T,G&fts=all	E263A	--	--	1																																		YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.E150A|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_5'UTR|YSK4_uc002tui.3_Missense_Mutation_p.E280A	1	1		benign(0)	p.E263A	NM_025052	NP_079328		tolerated(0.1)	1	M3K19_HUMAN	MAP3K19	HGNC	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	H7C041_HUMAN,C9JGQ2_HUMAN,C9JEJ9_HUMAN		7	819	-			UPI00004F77F2	263					SNV	MAP3K19,missense_variant,p.Glu263Ala,ENST00000375845,NM_025052.3;MAP3K19,missense_variant,p.Glu280Ala,ENST00000392915,;MAP3K19,missense_variant,p.Glu150Ala,ENST00000358371,NM_001018044.2;MAP3K19,5_prime_UTR_variant,,ENST00000315513,;MAP3K19,intron_variant,,ENST00000375844,NM_001018046.1;MAP3K19,intron_variant,,ENST00000392918,NM_001018047.2;MAP3K19,intron_variant,,ENST00000392917,NM_001282883.1;MAP3K19,upstream_gene_variant,,ENST00000437365,;MAP3K19,downstream_gene_variant,,ENST00000468155,;MAP3K19,upstream_gene_variant,,ENST00000478805,;	uc002tue.1	c.788A>C	819/4377	3	3			c.788A>C						2	SNP	c.(787-789)GAG>GCG	16	16			stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5	Broad	Yeast Sps1/Ste20-related kinase 4 isoform 1			135745654		0.443	ENSG00000176601	17239	g.chr2:135745654T>G			ATP binding|protein serine/threonine kinase activity			411			411	51.742892	KEEP	17	7	-1	58	39	17	7	-1	61.392404	58	39	0.2	1	0	0	0	0	1	0	0	0	--	--		0	G			YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.E150A|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_5'UTR|YSK4_uc002tui.3_Missense_Mutation_p.E280A	165	GBM-19-2625-TP	p.E263A	T	TCCCGGAGGCTCGTTTGATGG	NM_025052	NP_079328	135745654	Q56UN5	YSK4_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.112)	7	819	-	G	G			Missense_Mutation	263						
MAP3K19	0	broad.mit.edu	GRCh37	2	135738725	135738725	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5958-01	TCGA-19-5958-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375845.3:c.3586C>T	p.Pro1196Ser	p.P1196S	ENST00000375845	NM_025052.3	1196	Cca/Tca	0			1			A	P/S	uc002tue.1	protein_coding	YES	CCDS2176.2			3586/3987									stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5	c.(3586-3588)CCA>TCA			PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF129,hmmpanther:PTHR24361,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	Yeast Sps1/Ste20-related kinase 4 isoform 1				ENSP00000365005		10-Sep									COSM2156822,COSM2156821	10-Sep	.		ENST00000375845	Transcript					ATP binding|protein serine/threonine kinase activity	ENSG00000176601	g.chr2:135738725G>A	26249			MODERATE		-0.89	neutral	getma.org/?cm=msa&ty=f&p=YSK4_HUMAN&rb=1061&re=1324&var=P1196S	getma.org/pdb.php?prot=YSK4_HUMAN&from=1061&to=1324&var=P1196S	getma.org/?cm=var&var=hg19,2,135738725,G,A&fts=all	P1196S	--	--	1																																		YSK4_uc002tuf.1_Missense_Mutation_p.P378S|YSK4_uc010fnc.1_Missense_Mutation_p.P330S|YSK4_uc010fnd.1_Missense_Mutation_p.P1083S|YSK4_uc010zbg.1_Missense_Mutation_p.P328S|YSK4_uc002tuh.3_Missense_Mutation_p.P924S|YSK4_uc002tui.3_3'UTR	1,1	1		probably_damaging(0.98)	p.P1196S	NM_025052	NP_079328		deleterious(0)	1,1	M3K19_HUMAN	MAP3K19	HGNC	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	H7C041_HUMAN,C9JGQ2_HUMAN,C9JEJ9_HUMAN		9	3617	-			UPI00004F77F2	1196			Protein kinase.		SNV	MAP3K19,missense_variant,p.Pro1196Ser,ENST00000375845,NM_025052.3;MAP3K19,missense_variant,p.Pro57Ser,ENST00000315513,;MAP3K19,missense_variant,p.Pro1083Ser,ENST00000358371,NM_001018044.2;MAP3K19,missense_variant,p.Pro586Ser,ENST00000437365,;MAP3K19,missense_variant,p.Pro378Ser,ENST00000375844,NM_001018046.1;MAP3K19,missense_variant,p.Pro330Ser,ENST00000392918,NM_001018047.2;MAP3K19,missense_variant,p.Pro328Ser,ENST00000392917,NM_001282883.1;MAP3K19,3_prime_UTR_variant,,ENST00000392915,;MAP3K19,non_coding_transcript_exon_variant,,ENST00000478805,;	uc002tue.1	c.3586C>T	3617/4377	1	1			c.3586C>T						2	SNP	c.(3586-3588)CCA>TCA	62	62			stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5	Broad	Yeast Sps1/Ste20-related kinase 4 isoform 1			135738725		0.428	ENSG00000176601	17239	g.chr2:135738725G>A			ATP binding|protein serine/threonine kinase activity			411			411	129.032327	KEEP	20	27	-1	34	51	20	27	-1	130.98262	34	51	0.365854	1	0	0	0	0	1	0	0	0	--	--		0	A			YSK4_uc002tuf.1_Missense_Mutation_p.P378S|YSK4_uc010fnc.1_Missense_Mutation_p.P330S|YSK4_uc010fnd.1_Missense_Mutation_p.P1083S|YSK4_uc010zbg.1_Missense_Mutation_p.P328S|YSK4_uc002tuh.3_Missense_Mutation_p.P924S|YSK4_uc002tui.3_3'UTR	176	GBM-19-5958-TP	p.P1196S	G	ATTCCAGTTGGCATGAGCATA	NM_025052	NP_079328	135738725	Q56UN5	YSK4_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.112)	9	3617	-	A	A			Missense_Mutation	1196			Protein kinase.			
MAP3K19	0	broad.mit.edu	GRCh37	2	135744775	135744775	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01	TCGA-32-4210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375845.3:c.1667C>T	p.Thr556Ile	p.T556I	ENST00000375845	NM_025052.3	556	aCt/aTt	0			1			A	T/I	uc002tue.1	protein_coding	YES	CCDS2176.2			1667/3987									stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5	c.(1666-1668)ACT>ATT			hmmpanther:PTHR24361:SF129,hmmpanther:PTHR24361	Yeast Sps1/Ste20-related kinase 4 isoform 1				ENSP00000365005		10-Jul									COSM3406885	10-Jul	.		ENST00000375845	Transcript					ATP binding|protein serine/threonine kinase activity	ENSG00000176601	g.chr2:135744775G>A	26249			MODERATE		-0.69	neutral	getma.org/?cm=msa&ty=f&p=YSK4_HUMAN&rb=431&re=929&var=T556I	NA	getma.org/?cm=var&var=hg19,2,135744775,G,A&fts=all	T556I	--	--	1																																		YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.T443I|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.T284I|YSK4_uc002tui.3_Missense_Mutation_p.T573I	1	1		benign(0)	p.T556I	NM_025052	NP_079328		tolerated(0.48)	1	M3K19_HUMAN	MAP3K19	HGNC	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	H7C041_HUMAN,C9JGQ2_HUMAN,C9JEJ9_HUMAN		7	1698	-			UPI00004F77F2	556					SNV	MAP3K19,missense_variant,p.Thr556Ile,ENST00000375845,NM_025052.3;MAP3K19,missense_variant,p.Thr573Ile,ENST00000392915,;MAP3K19,missense_variant,p.Thr443Ile,ENST00000358371,NM_001018044.2;MAP3K19,5_prime_UTR_variant,,ENST00000315513,;MAP3K19,intron_variant,,ENST00000375844,NM_001018046.1;MAP3K19,intron_variant,,ENST00000392918,NM_001018047.2;MAP3K19,intron_variant,,ENST00000392917,NM_001282883.1;MAP3K19,upstream_gene_variant,,ENST00000437365,;MAP3K19,downstream_gene_variant,,ENST00000468155,;MAP3K19,upstream_gene_variant,,ENST00000478805,;	uc002tue.1	c.1667C>T	1698/4377	2	2			c.1667C>T						2	SNP	c.(1666-1668)ACT>ATT	32	32			stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5	Broad	Yeast Sps1/Ste20-related kinase 4 isoform 1			135744775		0.428	ENSG00000176601	17239	g.chr2:135744775G>A			ATP binding|protein serine/threonine kinase activity			411			411	448.197384	KEEP	64	77	-1	62	83	64	77	-1	448.226029	62	83	0.489362	1	0	0	0	0	1	0	0	0	--	--		0	A			YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.T443I|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.T284I|YSK4_uc002tui.3_Missense_Mutation_p.T573I	245	GBM-32-4210-TP	p.T556I	G	GGGACCTTCAGTAGAAATCAC	NM_025052	NP_079328	135744775	Q56UN5	YSK4_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.112)	7	1698	-	A	A			Missense_Mutation	556						
MAP3K19	0	broad.mit.edu	GRCh37	2	135738775	135738775	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-4213-01	TCGA-32-4213-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375845.3:c.3536A>G	p.Glu1179Gly	p.E1179G	ENST00000375845	NM_025052.3	1179	gAg/gGg	0			1			C	E/G	uc002tue.1	protein_coding	YES	CCDS2176.2			3536/3987									stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5	c.(3535-3537)GAG>GGG			PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF129,hmmpanther:PTHR24361,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	Yeast Sps1/Ste20-related kinase 4 isoform 1				ENSP00000365005		10-Sep									COSM3406882,COSM3406881	10-Sep	.		ENST00000375845	Transcript					ATP binding|protein serine/threonine kinase activity	ENSG00000176601	g.chr2:135738775T>C	26249			MODERATE		0.61	neutral	getma.org/?cm=msa&ty=f&p=YSK4_HUMAN&rb=1061&re=1324&var=E1179G	getma.org/pdb.php?prot=YSK4_HUMAN&from=1061&to=1324&var=E1179G	getma.org/?cm=var&var=hg19,2,135738775,T,C&fts=all	E1179G	--	--	1																																		YSK4_uc002tuf.1_Missense_Mutation_p.E361G|YSK4_uc010fnc.1_Missense_Mutation_p.E313G|YSK4_uc010fnd.1_Missense_Mutation_p.E1066G|YSK4_uc010zbg.1_Missense_Mutation_p.E311G|YSK4_uc002tuh.3_Missense_Mutation_p.E907G|YSK4_uc002tui.3_3'UTR	1,1	1		benign(0.42)	p.E1179G	NM_025052	NP_079328		deleterious(0)	1,1	M3K19_HUMAN	MAP3K19	HGNC	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	H7C041_HUMAN,C9JGQ2_HUMAN,C9JEJ9_HUMAN		9	3567	-			UPI00004F77F2	1179			Protein kinase.		SNV	MAP3K19,missense_variant,p.Glu1179Gly,ENST00000375845,NM_025052.3;MAP3K19,missense_variant,p.Glu40Gly,ENST00000315513,;MAP3K19,missense_variant,p.Glu1066Gly,ENST00000358371,NM_001018044.2;MAP3K19,missense_variant,p.Glu569Gly,ENST00000437365,;MAP3K19,missense_variant,p.Glu361Gly,ENST00000375844,NM_001018046.1;MAP3K19,missense_variant,p.Glu313Gly,ENST00000392918,NM_001018047.2;MAP3K19,missense_variant,p.Glu311Gly,ENST00000392917,NM_001282883.1;MAP3K19,3_prime_UTR_variant,,ENST00000392915,;MAP3K19,non_coding_transcript_exon_variant,,ENST00000478805,;	uc002tue.1	c.3536A>G	3567/4377	3	3			c.3536A>G						2	SNP	c.(3535-3537)GAG>GGG	63	63			stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5	Broad	Yeast Sps1/Ste20-related kinase 4 isoform 1			135738775		0.413	ENSG00000176601	17239	g.chr2:135738775T>C			ATP binding|protein serine/threonine kinase activity			411			411	-55.798719	KEEP	6	0	-1	146	154	6	0	-1	11.824395	146	154	0.022556	1	0	0	0	0	1	0	0	0	--	--		0	C			YSK4_uc002tuf.1_Missense_Mutation_p.E361G|YSK4_uc010fnc.1_Missense_Mutation_p.E313G|YSK4_uc010fnd.1_Missense_Mutation_p.E1066G|YSK4_uc010zbg.1_Missense_Mutation_p.E311G|YSK4_uc002tuh.3_Missense_Mutation_p.E907G|YSK4_uc002tui.3_3'UTR	247	GBM-32-4213-TP	p.E1179G	T	CACACAGTTCTCATGGAGATA	NM_025052	NP_079328	135738775	Q56UN5	YSK4_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.112)	9	3567	-	C	C			Missense_Mutation	1179			Protein kinase.			
MAP3K19	80122		GRCh37	2	135738921	135738921	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000375845.3:c.3390C>A	p.Cys1130Ter	p.C1130*	ENST00000375845	NM_025052.3	1130	tgC/tgA	0																																																																																																																																																																																																																																												
MAP3K19	80122		GRCh37	2	135738842	135738842	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000375845.3:c.3469C>T	p.Pro1157Ser	p.P1157S	ENST00000375845	NM_025052.3	1157	Cca/Tca	0																																																																																																																																																																																																																																												
MAP3K4	0	broad.mit.edu	GRCh37	6	161470034	161470034	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-2620-01	TCGA-19-2620-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392142.4:c.730A>G	p.Arg244Gly	p.R244G	ENST00000392142	NM_005922.2	244	Agg/Ggg	0			1			G	R/G	uc003qtn.2	protein_coding	YES	CCDS34565.1			730/4827									ovary(3)|lung(3)|skin(2)|stomach(1)	9	c.(730-732)AGG>GGG			hmmpanther:PTHR24360,hmmpanther:PTHR24360:SF53	mitogen-activated protein kinase kinase kinase 4				ENSP00000375986		27-Mar									COSM3410761,COSM3410760	27-Mar	.		ENST00000392142	Transcript			activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	ENSG00000085511	g.chr6:161470034A>G	6856			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=M3K4_HUMAN&rb=48&re=1136&var=R244G	NA	getma.org/?cm=var&var=hg19,6,161470034,A,G&fts=all	R244G	--	--	1																																		MAP3K4_uc010kkc.1_Missense_Mutation_p.R244G|MAP3K4_uc003qto.2_Missense_Mutation_p.R244G|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR	1,1	1		possibly_damaging(0.479)	p.R244G	NM_005922	NP_005913		tolerated(0.13)	1,1	M3K4_HUMAN	MAP3K4	HGNC	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	F5H534_HUMAN		3	872	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	UPI00004574E1	244					SNV	MAP3K4,missense_variant,p.Arg244Gly,ENST00000392142,NM_005922.2;MAP3K4,missense_variant,p.Arg244Gly,ENST00000366920,;MAP3K4,missense_variant,p.Arg244Gly,ENST00000366919,NM_006724.2;MAP3K4,missense_variant,p.Arg244Gly,ENST00000348824,;MAP3K4,downstream_gene_variant,,ENST00000446500,;MAP3K4,missense_variant,p.Arg244Gly,ENST00000490904,;MAP3K4,missense_variant,p.Arg244Gly,ENST00000544041,;MAP3K4,intron_variant,,ENST00000542952,;	uc003qtn.2	c.730A>G	878/5490	4	4			c.730A>G						6	SNP	c.(730-732)AGG>GGG	29	29			ovary(3)|lung(3)|skin(2)|stomach(1)	9	Broad	mitogen-activated protein kinase kinase kinase 4			161470034		0.433	ENSG00000085511	9080	g.chr6:161470034A>G	activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			511			511	36.428025	KEEP	8	6	-1	18	18	8	6	-1	38.295777	18	18	0.291667	1	0	0	0	0	1	0	0	0	--	--		0	G			MAP3K4_uc010kkc.1_Missense_Mutation_p.R244G|MAP3K4_uc003qto.2_Missense_Mutation_p.R244G|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR	162	GBM-19-2620-TP	p.R244G	A	GAAAAAAGACAGGGAGCAAAG	NM_005922	NP_005913	161470034	Q9Y6R4	M3K4_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	3	872	+	G	G		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	Missense_Mutation	244						
MAP3K4	0	broad.mit.edu	GRCh37	6	161527602	161527602	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392142.4:c.3913G>A	p.Glu1305Lys	p.E1305K	ENST00000392142	NM_005922.2	1305	Gaa/Aaa	0			1			A	E/K	uc003qtn.2	protein_coding	YES	CCDS34565.1			3913/4827									ovary(3)|lung(3)|skin(2)|stomach(1)	9	c.(3913-3915)GAA>AAA			hmmpanther:PTHR24360,hmmpanther:PTHR24360:SF53	mitogen-activated protein kinase kinase kinase 4				ENSP00000375986		20/27									COSM3410763,COSM3410762	20/27	.		ENST00000392142	Transcript			activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	ENSG00000085511	g.chr6:161527602G>A	6856			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=M3K4_HUMAN&rb=1284&re=1342&var=E1305K	NA	getma.org/?cm=var&var=hg19,6,161527602,G,A&fts=all	E1305K	--	--	1																																		MAP3K4_uc010kkc.1_Missense_Mutation_p.E1301K|MAP3K4_uc003qto.2_Missense_Mutation_p.E1255K|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.E758K|MAP3K4_uc003qtp.2_Missense_Mutation_p.E241K|MAP3K4_uc003qtq.2_5'UTR	1,1	1		possibly_damaging(0.86)	p.E1305K	NM_005922	NP_005913		deleterious(0.01)	1,1	M3K4_HUMAN	MAP3K4	HGNC	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	F5H534_HUMAN		20	4055	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	UPI00004574E1	1305					SNV	MAP3K4,missense_variant,p.Glu1305Lys,ENST00000392142,NM_005922.2;MAP3K4,missense_variant,p.Glu1301Lys,ENST00000366920,;MAP3K4,missense_variant,p.Glu1255Lys,ENST00000366919,NM_006724.2;MAP3K4,missense_variant,p.Glu1251Lys,ENST00000348824,;MAP3K4,missense_variant,p.Glu1305Lys,ENST00000544041,;MAP3K4,3_prime_UTR_variant,,ENST00000490904,;MAP3K4,non_coding_transcript_exon_variant,,ENST00000536852,;MAP3K4,non_coding_transcript_exon_variant,,ENST00000541901,;MAP3K4,non_coding_transcript_exon_variant,,ENST00000544733,;MAP3K4,downstream_gene_variant,,ENST00000543421,;MAP3K4,upstream_gene_variant,,ENST00000539610,;	uc003qtn.2	c.3913G>A	4061/5490	2	2			c.3913G>A						6	SNP	c.(3913-3915)GAA>AAA	30	30			ovary(3)|lung(3)|skin(2)|stomach(1)	9	Broad	mitogen-activated protein kinase kinase kinase 4			161527602		0.408	ENSG00000085511	9080	g.chr6:161527602G>A	activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			511			511	69.111284	KEEP	18	8	-1	36	35	18	8	-1	72.861745	36	35	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	A			MAP3K4_uc010kkc.1_Missense_Mutation_p.E1301K|MAP3K4_uc003qto.2_Missense_Mutation_p.E1255K|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.E758K|MAP3K4_uc003qtp.2_Missense_Mutation_p.E241K|MAP3K4_uc003qtq.2_5'UTR	232	GBM-32-1982-TP	p.E1305K	G	CCGATTGTTTGAAGAAAAGAG	NM_005922	NP_005913	161527602	Q9Y6R4	M3K4_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	20	4055	+	A	A		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	Missense_Mutation	1305						
MAP3K4	0	broad.mit.edu	GRCh37	6	161527656	161527656	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392142.4:c.3967G>A	p.Asp1323Asn	p.D1323N	ENST00000392142	NM_005922.2	1323	Gat/Aat	0			1			A	D/N	uc003qtn.2	protein_coding	YES	CCDS34565.1			3967/4827									ovary(3)|lung(3)|skin(2)|stomach(1)	9	c.(3967-3969)GAT>AAT			hmmpanther:PTHR24360,hmmpanther:PTHR24360:SF53	mitogen-activated protein kinase kinase kinase 4				ENSP00000375986		20/27									COSM3410765,COSM3410764	20/27	.		ENST00000392142	Transcript			activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	ENSG00000085511	g.chr6:161527656G>A	6856			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=M3K4_HUMAN&rb=1284&re=1342&var=D1323N	NA	getma.org/?cm=var&var=hg19,6,161527656,G,A&fts=all	D1323N	--	--	1																																		MAP3K4_uc010kkc.1_Missense_Mutation_p.D1319N|MAP3K4_uc003qto.2_Missense_Mutation_p.D1273N|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.D776N|MAP3K4_uc003qtp.2_Missense_Mutation_p.D259N|MAP3K4_uc003qtq.2_Missense_Mutation_p.D12N	1,1	1		benign(0.013)	p.D1323N	NM_005922	NP_005913		tolerated(0.21)	1,1	M3K4_HUMAN	MAP3K4	HGNC	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	F5H534_HUMAN		20	4109	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	UPI00004574E1	1323					SNV	MAP3K4,missense_variant,p.Asp1323Asn,ENST00000392142,NM_005922.2;MAP3K4,missense_variant,p.Asp1319Asn,ENST00000366920,;MAP3K4,missense_variant,p.Asp1273Asn,ENST00000366919,NM_006724.2;MAP3K4,missense_variant,p.Asp1269Asn,ENST00000348824,;MAP3K4,missense_variant,p.Asp1323Asn,ENST00000544041,;MAP3K4,3_prime_UTR_variant,,ENST00000490904,;MAP3K4,non_coding_transcript_exon_variant,,ENST00000536852,;MAP3K4,non_coding_transcript_exon_variant,,ENST00000541901,;MAP3K4,non_coding_transcript_exon_variant,,ENST00000544733,;MAP3K4,downstream_gene_variant,,ENST00000543421,;MAP3K4,upstream_gene_variant,,ENST00000539610,;	uc003qtn.2	c.3967G>A	4115/5490	1	1			c.3967G>A						6	SNP	c.(3967-3969)GAT>AAT	60	60			ovary(3)|lung(3)|skin(2)|stomach(1)	9	Broad	mitogen-activated protein kinase kinase kinase 4			161527656		0.398	ENSG00000085511	9080	g.chr6:161527656G>A	activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			511			511	78.108029	KEEP	15	15	-1	50	31	15	15	-1	82.433996	50	31	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	A			MAP3K4_uc010kkc.1_Missense_Mutation_p.D1319N|MAP3K4_uc003qto.2_Missense_Mutation_p.D1273N|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.D776N|MAP3K4_uc003qtp.2_Missense_Mutation_p.D259N|MAP3K4_uc003qtq.2_Missense_Mutation_p.D12N	232	GBM-32-1982-TP	p.D1323N	G	TCAAGTTTGTGATACGCCTAA	NM_005922	NP_005913	161527656	Q9Y6R4	M3K4_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	20	4109	+	A	A		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	Missense_Mutation	1323						
MAP3K5	0	broad.mit.edu	GRCh37	6	137041637	137041637	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-2495-01	TCGA-32-2495-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359015.4:c.539A>G	p.Asn180Ser	p.N180S	ENST00000359015	NM_005923.3	180	aAc/aGc	0			1			C	N/S	uc003qhc.2	protein_coding	YES	CCDS5179.1			539/4125									ovary(2)|skin(2)|lung(1)	5	c.(538-540)AAC>AGC			hmmpanther:PTHR11584,hmmpanther:PTHR11584:SF332,Pfam_domain:PF13281	mitogen-activated protein kinase kinase kinase				ENSP00000351908		Feb-30									COSM3410612	Feb-30	.		ENST00000359015	Transcript			activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	ENSG00000197442	g.chr6:137041637T>C	6857			MODERATE		2.61	medium	getma.org/?cm=msa&ty=f&p=M3K5_HUMAN&rb=165&re=545&var=N180S	NA	getma.org/?cm=var&var=hg19,6,137041637,T,C&fts=all	N180S	--	--	1																																		MAP3K5_uc011edk.1_Missense_Mutation_p.N25S|MAP3K5_uc010kgw.1_Missense_Mutation_p.N180S	1	1		probably_damaging(0.996)	p.N180S	NM_005923	NP_005914		deleterious(0.02)	1	M3K5_HUMAN	MAP3K5	HGNC	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	A6NIA0_HUMAN		2	900	-	Colorectal(23;0.24)		UPI000012EAD5	180					SNV	MAP3K5,missense_variant,p.Asn180Ser,ENST00000359015,NM_005923.3;	uc003qhc.2	c.539A>G	900/5197	3	3			c.539A>G						6	SNP	c.(538-540)AAC>AGC	2	2			ovary(2)|skin(2)|lung(1)	5	Broad	mitogen-activated protein kinase kinase kinase			137041637		0.473	ENSG00000197442	9081	g.chr6:137041637T>C	activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			1151			1151	6.96163	KEEP	6	4	-1	48	82	6	4	-1	29.177219	48	82	0.080645	1	0	0	0	0	1	0	0	0	--	--		0	C			MAP3K5_uc011edk.1_Missense_Mutation_p.N25S|MAP3K5_uc010kgw.1_Missense_Mutation_p.N180S	237	GBM-32-2495-TP	p.N180S	T	GAGGATGATGTTGTTGGCCAT	NM_005923	NP_005914	137041637	Q99683	M3K5_HUMAN	0		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	2	900	-	C	C	Colorectal(23;0.24)		Missense_Mutation	180						
MAP3K7	0	broad.mit.edu	GRCh37	6	91281453	91281453	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-27-1835-01	TCGA-27-1835-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369329.3:c.194T>C	p.Ile65Thr	p.I65T	ENST00000369329	NM_145331.2	65	aTa/aCa	0			1			G	I/T	uc003pnz.1	protein_coding	YES	CCDS5028.1			194/1821									ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6	c.(193-195)ATA>ACA			Gene3D:3.30.200.20,Pfam_domain:PF07714,PIRSF_domain:PIRSF038168,PROSITE_profiles:PS50011,hmmpanther:PTHR26392,SMART_domains:SM00220,Superfamily_domains:SSF56112	mitogen-activated protein kinase kinase kinase 7				ENSP00000358335		17-Feb									COSM2157232,COSM2157231	17-Feb	.		ENST00000369329	Transcript			activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding	ENSG00000135341	g.chr6:91281453A>G	6859			MODERATE		2.82	medium	getma.org/?cm=msa&ty=f&p=M3K7_HUMAN&rb=36&re=284&var=I65T	getma.org/pdb.php?prot=M3K7_HUMAN&from=36&to=284&var=I65T	getma.org/?cm=var&var=hg19,6,91281453,A,G&fts=all	I65T	--	--	1																																		MAP3K7_uc003poa.1_Missense_Mutation_p.I65T|MAP3K7_uc003pob.1_Missense_Mutation_p.I65T|MAP3K7_uc003poc.1_Missense_Mutation_p.I65T	1,1	1		probably_damaging(0.988)	p.I65T	NM_145331	NP_663304		deleterious(0)	1,1	M3K7_HUMAN	MAP3K7	HGNC	O43318	M3K7_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)			2	356	-		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)	UPI000012EAD6	65			Protein kinase.		SNV	MAP3K7,missense_variant,p.Ile65Thr,ENST00000369329,NM_145331.2;MAP3K7,missense_variant,p.Ile65Thr,ENST00000369332,NM_003188.3;MAP3K7,missense_variant,p.Ile65Thr,ENST00000369325,NM_145332.2;MAP3K7,missense_variant,p.Ile65Thr,ENST00000369327,NM_145333.2;	uc003pnz.1	c.194T>C	356/4911	3	3			c.194T>C						6	SNP	c.(193-195)ATA>ACA	11	11			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6	Broad	mitogen-activated protein kinase kinase kinase 7			91281453		0.318	ENSG00000135341	9083	g.chr6:91281453A>G	activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding			329			329	122.71362	KEEP	14	24	-1	22	30	14	24	-1	123.157081	22	30	0.421687	1	0	0	0	0	1	0	0	0	--	--		0	G			MAP3K7_uc003poa.1_Missense_Mutation_p.I65T|MAP3K7_uc003pob.1_Missense_Mutation_p.I65T|MAP3K7_uc003poc.1_Missense_Mutation_p.I65T	194	GBM-27-1835-TP	p.I65T	A	TTCACTTTCTATTTGTTTAAT	NM_145331	NP_663304	91281453	O43318	M3K7_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)	2	356	-	G	G		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)	Missense_Mutation	65			Protein kinase.			
MAP3K7	6885		GRCh37	6	91226312	91226312	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000369329.3:c.1729G>T	p.Glu577Ter	p.E577*	ENST00000369329	NM_145331.2	577	Gaa/Taa	0																																																																																																																																																																																																																																												
MAP3K8	1326	broad.mit.edu	GRCh37	10	30739369	30739369	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0141-01	TCGA-06-0141-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263056.1:c.687A>G	p.Glu229=	p.E229=	ENST00000263056	NM_001244134.1	229	gaA/gaG	0			1			G	E	uc001ivi.1	protein_coding	YES	CCDS7166.1			687/1404									breast(3)|central_nervous_system(1)	4	c.(685-687)GAA>GAG			PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF94,hmmpanther:PTHR24361,Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF038171,SMART_domains:SM00220,Superfamily_domains:SSF56112	mitogen-activated protein kinase kinase kinase				ENSP00000263056		9-May									COSM3397092	9-May	.		ENST00000263056	Transcript			cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	ENSG00000107968	g.chr10:30739369A>G	6860			LOW								--	--	1																																		MAP3K8_uc009xlf.1_Silent_p.E229E|MAP3K8_uc001ivj.1_Silent_p.E229E	1	1			p.E229E	NM_005204	NP_005195			1	M3K8_HUMAN	MAP3K8	HGNC	P41279	M3K8_HUMAN			Q5T857_HUMAN,Q5T853_HUMAN		5	1383	+		Prostate(175;0.151)	UPI000013D395	229			Protein kinase.		SNV	MAP3K8,synonymous_variant,p.=,ENST00000263056,NM_001244134.1,NM_005204.3;MAP3K8,synonymous_variant,p.=,ENST00000375321,;MAP3K8,synonymous_variant,p.=,ENST00000542547,;MAP3K8,synonymous_variant,p.=,ENST00000415139,;MAP3K8,downstream_gene_variant,,ENST00000413724,;MAP3K8,non_coding_transcript_exon_variant,,ENST00000430603,;	uc001ivi.1	c.687A>G	1383/3096	3	3			c.687A>G						10	SNP	c.(685-687)GAA>GAG	49	49			breast(3)|central_nervous_system(1)	4	Broad	mitogen-activated protein kinase kinase kinase			30739369		0.418	ENSG00000107968	9084	g.chr10:30739369A>G	cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			197			197	-22.163747	KEEP	2	1	-1	59	61	2	1	-1	6.399251	59	61	0.026087	1	0	0	0	0	0	0	1	0	--	--		0	G			MAP3K8_uc009xlf.1_Silent_p.E229E|MAP3K8_uc001ivj.1_Silent_p.E229E	21	GBM-06-0141-TP	p.E229E	A	GAGAATTTGAAATTATTTGGG	NM_005204	NP_005195	30739369	P41279	M3K8_HUMAN	0			5	1383	+	G	G		Prostate(175;0.151)	Silent	229			Protein kinase.			
MAP3K9	4293	broad.mit.edu	GRCh37	14	71205013	71205013	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5412-01	TCGA-06-5412-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000555993.2:c.1793C>T	p.Thr598Met	p.T598M	ENST00000555993	NM_033141.2	598	aCg/aTg	0		A:0	1	A:0		A	T/M	uc001xmm.2	protein_coding		CCDS61488.1			1793/3315									stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5	c.(1792-1794)ACG>ATG			PIRSF_domain:PIRSF000556	mitogen-activated protein kinase kinase kinase		A:0.001		ENSP00000451612	A:0	12-Aug	8.24E-06			0.000116					rs572761925,COSM1678105	12-Aug	.		ENST00000554752	Transcript		A:0.0002	activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	ENSG00000006432	g.chr14:71205013G>A	6861			MODERATE		2.25	medium	getma.org/?cm=msa&ty=f&p=M3K9_HUMAN&rb=424&re=1102&var=T598M	NA	getma.org/?cm=var&var=hg19,14,71205013,G,A&fts=all	T598M	--	--	1																																		MAP3K9_uc010ttk.1_Missense_Mutation_p.T335M|MAP3K9_uc001xmk.2_Missense_Mutation_p.T340M|MAP3K9_uc001xml.2_Missense_Mutation_p.T598M	0,1			probably_damaging(0.996)	p.T598M	NM_033141	NP_149132	A:0	deleterious(0)	0,1	M3K9_HUMAN	MAP3K9	HGNC	P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	Q8NEB1_HUMAN,B4DSG3_HUMAN,B3KRI5_HUMAN		8	1793	-			UPI0000D62427	598					SNV	MAP3K9,missense_variant,p.Thr598Met,ENST00000554752,NM_001284230.1;MAP3K9,missense_variant,p.Thr598Met,ENST00000555993,NM_033141.2;MAP3K9,missense_variant,p.Thr598Met,ENST00000381250,;MAP3K9,missense_variant,p.Thr340Met,ENST00000553414,NM_001284232.1;MAP3K9,missense_variant,p.Thr335Met,ENST00000554146,;	uc001xmm.2	c.1793C>T	1793/11169	2	2			c.1793C>T						14	SNP	c.(1792-1794)ACG>ATG	45	45			stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5	Broad	mitogen-activated protein kinase kinase kinase			71205013		0.488	ENSG00000006432	9085	g.chr14:71205013G>A	activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	GBM(114;411 1587 13539 28235 50070)		190	GBM(114;411 1587 13539 28235 50070)		190	15.059924	KEEP	9	7	-1	49	58	9	7	-1	29.772921	49	58	0.12844	1	0	0	0	0	1	0	0	0	--	--		0	A			MAP3K9_uc010ttk.1_Missense_Mutation_p.T335M|MAP3K9_uc001xmk.2_Missense_Mutation_p.T340M|MAP3K9_uc001xml.2_Missense_Mutation_p.T598M	95	GBM-06-5412-TP	p.T598M	G	TGGCCCCCACGTCCGTCCCTT	NM_033141	NP_149132	71205013	P80192	M3K9_HUMAN	0		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	8	1793	-	A	A			Missense_Mutation	598						
MAP4K1	11184	broad.mit.edu	GRCh37	19	39086283	39086283	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01	TCGA-06-0645-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591517.1:c.2266G>A	p.Val756Met	p.V756M	ENST00000591517	NM_007181.4	756	Gtg/Atg	0			1			T	V/M	uc002oix.1	protein_coding	YES	CCDS59385.1			2266/2502									skin(4)|lung(3)|ovary(1)	8	c.(2266-2268)GTG>ATG			PROSITE_profiles:PS50219,hmmpanther:PTHR24361:SF88,hmmpanther:PTHR24361,Pfam_domain:PF00780,PIRSF_domain:PIRSF038172,SMART_domains:SM00036	mitogen-activated protein kinase kinase kinase				ENSP00000465039		28/32									COSM3404197,COSM3404196	28/32	.		ENST00000591517	Transcript			activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	ENSG00000104814	g.chr19:39086283C>T	6863			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=M4K1_HUMAN&rb=505&re=797&var=V756M	NA	getma.org/?cm=var&var=hg19,19,39086283,C,T&fts=all	V756M	--	--	1																																		MAP4K1_uc002oiw.1_Missense_Mutation_p.V343M|MAP4K1_uc002oiy.1_Missense_Mutation_p.V756M	1,1	1		probably_damaging(0.999)	p.V756M	NM_007181	NP_009112		deleterious(0)	1,1	M4K1_HUMAN	MAP4K1	HGNC	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)				28	2374	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		UPI00000747ED	756			CNH.		SNV	MAP4K1,missense_variant,p.Val756Met,ENST00000591517,NM_007181.4;MAP4K1,missense_variant,p.Val752Met,ENST00000589130,;MAP4K1,missense_variant,p.Val756Met,ENST00000396857,NM_001042600.1;MAP4K1,missense_variant,p.Val460Met,ENST00000591921,;MAP4K1,intron_variant,,ENST00000586296,;MAP4K1,downstream_gene_variant,,ENST00000423454,;CTB-186G2.1,upstream_gene_variant,,ENST00000589557,;MAP4K1,non_coding_transcript_exon_variant,,ENST00000593196,;MAP4K1,non_coding_transcript_exon_variant,,ENST00000588938,;MAP4K1,downstream_gene_variant,,ENST00000585583,;MAP4K1,upstream_gene_variant,,ENST00000591210,;	uc002oix.1	c.2266G>A	2295/2700	2	2			c.2266G>A						19	SNP	c.(2266-2268)GTG>ATG	43	43			skin(4)|lung(3)|ovary(1)	8	Broad	mitogen-activated protein kinase kinase kinase			39086283		0.622	ENSG00000104814	9087	g.chr19:39086283C>T	activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			518			518	48.832501	KEEP	14	12	-1	61	62	14	12	-1	60.746607	61	62	0.186047	1	0	0	0	0	1	0	0	0	--	--		0	T			MAP4K1_uc002oiw.1_Missense_Mutation_p.V343M|MAP4K1_uc002oiy.1_Missense_Mutation_p.V756M	59	GBM-06-0645-TP	p.V756M	C	CACAGACCCACGGCCTCCACC	NM_007181	NP_009112	39086283	Q92918	M4K1_HUMAN	0	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		28	2374	-	T	T	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Missense_Mutation	756			CNH.			
MAP4K1	11184	broad.mit.edu	GRCh37	19	39104548	39104548	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01	TCGA-06-5859-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591517.1:c.505C>T	p.Arg169Cys	p.R169C	ENST00000591517	NM_007181.4	169	Cgc/Tgc	0			1			A	R/C	uc002oix.1	protein_coding	YES	CCDS59385.1			505/2502									skin(4)|lung(3)|ovary(1)	8	c.(505-507)CGC>TGC			PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF88,hmmpanther:PTHR24361,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,PIRSF_domain:PIRSF038172,Superfamily_domains:SSF56112	mitogen-activated protein kinase kinase kinase				ENSP00000465039		Aug-32									COSM3404201,COSM3404200	Aug-32	.		ENST00000591517	Transcript			activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	ENSG00000104814	g.chr19:39104548G>A	6863			MODERATE		2.31	medium	getma.org/?cm=msa&ty=f&p=M4K1_HUMAN&rb=17&re=274&var=R169C	getma.org/pdb.php?prot=M4K1_HUMAN&from=17&to=274&var=R169C	getma.org/?cm=var&var=hg19,19,39104548,G,A&fts=all	R169C	--	--	1																																		MAP4K1_uc002oiy.1_Missense_Mutation_p.R169C|MAP4K1_uc010xug.1_Translation_Start_Site	1,1	1		probably_damaging(0.939)	p.R169C	NM_007181	NP_009112		deleterious(0)	1,1	M4K1_HUMAN	MAP4K1	HGNC	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)				8	613	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		UPI00000747ED	169			Protein kinase.		SNV	MAP4K1,missense_variant,p.Arg169Cys,ENST00000591517,NM_007181.4;MAP4K1,missense_variant,p.Arg165Cys,ENST00000589130,;MAP4K1,missense_variant,p.Arg169Cys,ENST00000396857,NM_001042600.1;MAP4K1,missense_variant,p.Arg169Cys,ENST00000586296,;MAP4K1,5_prime_UTR_variant,,ENST00000423454,;MAP4K1,upstream_gene_variant,,ENST00000591921,;MAP4K1,non_coding_transcript_exon_variant,,ENST00000589002,;MAP4K1,missense_variant,p.Arg8Cys,ENST00000585583,;MAP4K1,non_coding_transcript_exon_variant,,ENST00000591707,;MAP4K1,non_coding_transcript_exon_variant,,ENST00000592888,;MAP4K1,downstream_gene_variant,,ENST00000592225,;MAP4K1,downstream_gene_variant,,ENST00000588083,;MAP4K1,downstream_gene_variant,,ENST00000587300,;	uc002oix.1	c.505C>T	534/2700	2	2			c.505C>T						19	SNP	c.(505-507)CGC>TGC	36	36			skin(4)|lung(3)|ovary(1)	8	Broad	mitogen-activated protein kinase kinase kinase			39104548		0.627	ENSG00000104814	9087	g.chr19:39104548G>A	activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			518			518	12.166344	KEEP	1	4	-1	7	11	1	4	-1	13.666175	7	11	0.227273	1	0	0	0	0	1	0	0	0	--	--		0	A			MAP4K1_uc002oiy.1_Missense_Mutation_p.R169C|MAP4K1_uc010xug.1_Translation_Start_Site	103	GBM-06-5859-TP	p.R169C	G	AAAGAGAGGCGTCTGGCCAGT	NM_007181	NP_009112	39104548	Q92918	M4K1_HUMAN	0	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		8	613	-	A	A	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Missense_Mutation	169			Protein kinase.			
MAP4K1	0	broad.mit.edu	GRCh37	19	39098515	39098515	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-2502-01	TCGA-28-2502-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591517.1:c.1146C>T	p.Asp382=	p.D382=	ENST00000591517	NM_007181.4	382	gaC/gaT	0			1			A	D	uc002oix.1	protein_coding	YES	CCDS59385.1			1146/2502									skin(4)|lung(3)|ovary(1)	8	c.(1144-1146)GAC>GAT			Low_complexity_(Seg):seg,hmmpanther:PTHR24361:SF88,hmmpanther:PTHR24361,PIRSF_domain:PIRSF038172	mitogen-activated protein kinase kinase kinase				ENSP00000465039		16/32	3.30E-05		0.00011			1.77E-05			rs773317386,COSM3404199,COSM3404198	16/32	.		ENST00000591517	Transcript			activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	ENSG00000104814	g.chr19:39098515G>A	6863			LOW								--	--	1																																		MAP4K1_uc002oiw.1_Translation_Start_Site|MAP4K1_uc002oiy.1_Silent_p.D382D|MAP4K1_uc010xug.1_Silent_p.D44D	0,1,1	1			p.D382D	NM_007181	NP_009112			0,1,1	M4K1_HUMAN	MAP4K1	HGNC	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)				16	1254	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		UPI00000747ED	382					SNV	MAP4K1,synonymous_variant,p.=,ENST00000591517,NM_007181.4;MAP4K1,synonymous_variant,p.=,ENST00000589130,;MAP4K1,synonymous_variant,p.=,ENST00000396857,NM_001042600.1;MAP4K1,synonymous_variant,p.=,ENST00000591921,;MAP4K1,synonymous_variant,p.=,ENST00000423454,;MAP4K1,intron_variant,,ENST00000586296,;MAP4K1,non_coding_transcript_exon_variant,,ENST00000589002,;MAP4K1,3_prime_UTR_variant,,ENST00000585583,;MAP4K1,downstream_gene_variant,,ENST00000591707,;MAP4K1,downstream_gene_variant,,ENST00000592888,;	uc002oix.1	c.1146C>T	1175/2700	2	2			c.1146C>T						19	SNP	c.(1144-1146)GAC>GAT	18	18			skin(4)|lung(3)|ovary(1)	8	Broad	mitogen-activated protein kinase kinase kinase			39098515		0.597	ENSG00000104814	9087	g.chr19:39098515G>A	activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			518			518	0.067887	KEEP	1	3	-1	30	20	1	3	-1	8.533675	30	20	0.083333	1	0	0	0	0	0	0	1	0	--	--		0	A			MAP4K1_uc002oiw.1_Translation_Start_Site|MAP4K1_uc002oiy.1_Silent_p.D382D|MAP4K1_uc010xug.1_Silent_p.D44D	210	GBM-28-2502-TP	p.D382D	G	TGTCCACGTCGTCATAGTCAT	NM_007181	NP_009112	39098515	Q92918	M4K1_HUMAN	0	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		16	1254	-	A	A	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Silent	382						
MAP4K2	0	broad.mit.edu	GRCh37	11	64557670	64557670	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-1597-01	TCGA-12-1597-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294066.2:c.2238C>T	p.Ile746=	p.I746=	ENST00000294066	NM_004579.3	746	atC/atT	0			1			A	I	uc001obh.2	protein_coding	YES	CCDS8082.1			2238/2463									ovary(1)|pancreas(1)	2	c.(2236-2238)ATC>ATT			PROSITE_profiles:PS50219,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF89,Pfam_domain:PF00780,PIRSF_domain:PIRSF038172,SMART_domains:SM00036	mitogen-activated protein kinase kinase kinase				ENSP00000294066		29/32	8.24E-06							6.06E-05	rs746314836,COSM3398024,COSM3398025	29/32	.		ENST00000294066	Transcript			activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity	ENSG00000168067	g.chr11:64557670G>A	6864			LOW								--	--	1																																		MAP4K2_uc001obg.2_RNA|MAP4K2_uc001obi.2_Silent_p.I738I	0,1,1	1			p.I746I	NM_004579	NP_004570			0,1,1	M4K2_HUMAN	MAP4K2	HGNC	Q12851	M4K2_HUMAN					29	2330	-			UPI000013E13D	746			CNH.		SNV	MAP4K2,synonymous_variant,p.=,ENST00000294066,NM_004579.3;MAP4K2,synonymous_variant,p.=,ENST00000377350,;RP11-869B15.1,upstream_gene_variant,,ENST00000598393,;MAP4K2,3_prime_UTR_variant,,ENST00000435926,;MAP4K2,3_prime_UTR_variant,,ENST00000433890,;MAP4K2,3_prime_UTR_variant,,ENST00000424945,;MAP4K2,non_coding_transcript_exon_variant,,ENST00000470088,;MAP4K2,non_coding_transcript_exon_variant,,ENST00000489952,;	uc001obh.2	c.2238C>T	2330/2955	2	2			c.2238C>T						11	SNP	c.(2236-2238)ATC>ATT	48	48			ovary(1)|pancreas(1)	2	Broad	mitogen-activated protein kinase kinase kinase			64557670		0.617	ENSG00000168067	9088	g.chr11:64557670G>A	activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			392			392	90.930494	KEEP	18	14	-1	30	30	18	14	-1	92.125883	30	30	0.37037	1	0	0	0	0	0	0	1	0	--	--		0	A			MAP4K2_uc001obg.2_RNA|MAP4K2_uc001obi.2_Silent_p.I738I	124	GBM-12-1597-TP	p.I746I	G	CCACAGTCTCGATGGGGAAAT	NM_004579	NP_004570	64557670	Q12851	M4K2_HUMAN	0			29	2330	-	A	A			Silent	746			CNH.			
MAP4K2	0	broad.mit.edu	GRCh37	11	64559447	64559448	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-27-1833-01	TCGA-27-1833-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294066.2:c.2025dupC	p.Cys676LeufsTer23	p.C676Lfs*23	ENST00000294066	NM_004579.3	675	-/C	0	G:0.0161		1			G	-/X	uc001obh.2	protein_coding	YES	CCDS8082.1			2025-2026/2463									ovary(1)|pancreas(1)	2	c.(2023-2028)GGCTGCfs			PROSITE_profiles:PS50219,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF89,Pfam_domain:PF00780,PIRSF_domain:PIRSF038172,SMART_domains:SM00036	mitogen-activated protein kinase kinase kinase			G:0.0169	ENSP00000294066		27/32									TMP_ESP_11_64559448_64559447	27/32	.		ENST00000294066	Transcript			activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity	ENSG00000168067	g.chr11:64559447_64559448insG	6864			HIGH								--	--	1																																		MAP4K2_uc001obg.2_RNA|MAP4K2_uc001obi.2_Frame_Shift_Ins_p.G667fs		1			p.G675fs	NM_004579	NP_004570				M4K2_HUMAN	MAP4K2	HGNC	Q12851	M4K2_HUMAN					27	2117_2118	-			UPI000013E13D	675_676			CNH.		insertion	MAP4K2,frameshift_variant,p.Cys676LeufsTer23,ENST00000294066,NM_004579.3;MAP4K2,frameshift_variant,p.Cys668LeufsTer23,ENST00000377350,;MAP4K2,frameshift_variant,p.Cys134LeufsTer126,ENST00000424945,;MAP4K2,3_prime_UTR_variant,,ENST00000435926,;MAP4K2,3_prime_UTR_variant,,ENST00000433890,;MAP4K2,non_coding_transcript_exon_variant,,ENST00000470088,;MAP4K2,non_coding_transcript_exon_variant,,ENST00000489952,;MAP4K2,downstream_gene_variant,,ENST00000467689,;	uc001obh.2	c.2025_2026insC	2117-2118/2955	5	5			c.2025_2026insC						11	INS	c.(2023-2028)GGCTGCfs	2	2			ovary(1)|pancreas(1)	2	Broad	mitogen-activated protein kinase kinase kinase			64559448		0.708	ENSG00000168067	9088	g.chr11:64559447_64559448insG	activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			392			392														0.33	1	0	0	1	1	0	0	0	0	--	--		0	G			MAP4K2_uc001obg.2_RNA|MAP4K2_uc001obi.2_Frame_Shift_Ins_p.G667fs	192	GBM-27-1833-TP	p.G675fs	-	AGGACGCGGCAGCCGGGCCCCT	NM_004579	NP_004570	64559447	Q12851	M4K2_HUMAN	0			27	2117_2118	-	G	G			Frame_Shift_Ins	675_676			CNH.			
MAP4K3	8491	broad.mit.edu	GRCh37	2	39560698	39560698	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-5856-01	TCGA-06-5856-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263881.3:c.432A>C	p.Leu144Phe	p.L144F	ENST00000263881	NM_003618.3	144	ttA/ttC	0			1			G	L/F	uc002rro.2	protein_coding	YES	CCDS1803.1			432/2685									ovary(3)|lung(3)|stomach(1)|pancreas(1)	8	c.(430-432)TTA>TTC			PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF205,hmmpanther:PTHR24361,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,PIRSF_domain:PIRSF038172,Superfamily_domains:SSF56112	mitogen-activated protein kinase kinase kinase				ENSP00000263881		Jul-34									COSM3407861	Jul-34	.		ENST00000263881	Transcript			JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	ENSG00000011566	g.chr2:39560698T>G	6865			MODERATE		2.23	medium	getma.org/?cm=msa&ty=f&p=M4K3_HUMAN&rb=16&re=273&var=L144F	getma.org/pdb.php?prot=M4K3_HUMAN&from=16&to=273&var=L144F	getma.org/?cm=var&var=hg19,2,39560698,T,G&fts=all	L144F	--	--	1																																		MAP4K3_uc002rrp.2_Missense_Mutation_p.L144F	1	1		probably_damaging(0.924)	p.L144F	NM_003618	NP_003609		deleterious(0)	1	M4K3_HUMAN	MAP4K3	HGNC	Q8IVH8	M4K3_HUMAN			Q53RV1_HUMAN,H7C1A4_HUMAN,B4DSS3_HUMAN,B3KMM5_HUMAN		7	523	-		all_hematologic(82;0.211)	UPI00000747E6	144			Protein kinase.		SNV	MAP4K3,missense_variant,p.Leu144Phe,ENST00000263881,NM_003618.3;MAP4K3,missense_variant,p.Leu144Phe,ENST00000341681,NM_001270425.1;MAP4K3,missense_variant,p.Leu81Phe,ENST00000437545,;MAP4K3,intron_variant,,ENST00000429397,;MAP4K3,downstream_gene_variant,,ENST00000437968,;	uc002rro.2	c.432A>C	757/4362	3	3			c.432A>C						2	SNP	c.(430-432)TTA>TTC	63	63			ovary(3)|lung(3)|stomach(1)|pancreas(1)	8	Broad	mitogen-activated protein kinase kinase kinase			39560698		0.269	ENSG00000011566	9089	g.chr2:39560698T>G	JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			525			525	9.110307	KEEP	3	3	-1	26	35	3	3	-1	17.683194	26	35	0.107143	1	0	0	0	0	1	0	0	0	--	--		0	G			MAP4K3_uc002rrp.2_Missense_Mutation_p.L144F	101	GBM-06-5856-TP	p.L144F	T	CATTATCCGTTAATAGAATGT	NM_003618	NP_003609	39560698	Q8IVH8	M4K3_HUMAN	0			7	523	-	G	G		all_hematologic(82;0.211)	Missense_Mutation	144			Protein kinase.			
MAP4K3	0	broad.mit.edu	GRCh37	2	39509673	39509673	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01	TCGA-32-1977-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263881.3:c.1610C>T	p.Pro537Leu	p.P537L	ENST00000263881	NM_003618.3	537	cCt/cTt	0			1			A	P/L	uc002rro.2	protein_coding	YES	CCDS1803.1			1610/2685									ovary(3)|lung(3)|stomach(1)|pancreas(1)	8	c.(1609-1611)CCT>CTT			hmmpanther:PTHR24361:SF205,hmmpanther:PTHR24361,PIRSF_domain:PIRSF038172	mitogen-activated protein kinase kinase kinase				ENSP00000263881		22/34	8.24E-06					1.50E-05			rs747296551,COSM3407859	22/34	.		ENST00000263881	Transcript			JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	ENSG00000011566	g.chr2:39509673G>A	6865			MODERATE		2.275	medium	getma.org/?cm=msa&ty=f&p=M4K3_HUMAN&rb=474&re=565&var=P537L	NA	getma.org/?cm=var&var=hg19,2,39509673,G,A&fts=all	P537L	--	--	1																																		MAP4K3_uc002rrp.2_Missense_Mutation_p.P516L|MAP4K3_uc010yns.1_Missense_Mutation_p.P90L	0,1	1		probably_damaging(0.999)	p.P537L	NM_003618	NP_003609		deleterious(0)	0,1	M4K3_HUMAN	MAP4K3	HGNC	Q8IVH8	M4K3_HUMAN			Q53RV1_HUMAN,H7C1A4_HUMAN,B4DSS3_HUMAN,B3KMM5_HUMAN		22	1701	-		all_hematologic(82;0.211)	UPI00000747E6	537					SNV	MAP4K3,missense_variant,p.Pro537Leu,ENST00000263881,NM_003618.3;MAP4K3,missense_variant,p.Pro516Leu,ENST00000341681,NM_001270425.1;MAP4K3,missense_variant,p.Pro453Leu,ENST00000437545,;MAP4K3,missense_variant,p.Pro90Leu,ENST00000536018,;SNORA67,downstream_gene_variant,,ENST00000516664,;MAP4K3,upstream_gene_variant,,ENST00000495648,;	uc002rro.2	c.1610C>T	1935/4362	2	2			c.1610C>T						2	SNP	c.(1609-1611)CCT>CTT	46	46			ovary(3)|lung(3)|stomach(1)|pancreas(1)	8	Broad	mitogen-activated protein kinase kinase kinase			39509673		0.323	ENSG00000011566	9089	g.chr2:39509673G>A	JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			525			525	30.039794	KEEP	8	11	-1	46	70	8	11	-1	42.635137	46	70	0.149533	1	0	0	0	0	1	0	0	0	--	--		0	A			MAP4K3_uc002rrp.2_Missense_Mutation_p.P516L|MAP4K3_uc010yns.1_Missense_Mutation_p.P90L	229	GBM-32-1977-TP	p.P537L	G	AGGTGTTGGAGGAAGACCATT	NM_003618	NP_003609	39509673	Q8IVH8	M4K3_HUMAN	0			22	1701	-	A	A		all_hematologic(82;0.211)	Missense_Mutation	537						
MAP4K4	0	broad.mit.edu	GRCh37	2	102486218	102486218	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2619-01	TCGA-19-2619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000347699.4:c.2355G>A	p.Gly785=	p.G785=	ENST00000347699	NM_145687.3	785	ggG/ggA	0			1			A	G	uc002tbg.2	protein_coding	YES	CCDS56130.1			2355/3720									stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4	c.(2353-2355)GGG>GGA			hmmpanther:PTHR24361:SF225,hmmpanther:PTHR24361	mitogen-activated protein kinase kinase kinase				ENSP00000314363		20/30									COSM3406714,COSM3406716,COSM3406715	20/30	.		ENST00000347699	Transcript			intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	ENSG00000071054	g.chr2:102486218G>A	6866			LOW								--	--	1																																		MAP4K4_uc002tbc.2_Silent_p.G866G|MAP4K4_uc002tbd.2_Silent_p.G758G|MAP4K4_uc002tbe.2_Silent_p.G704G|MAP4K4_uc002tbf.2_Silent_p.G755G|MAP4K4_uc010yvy.1_Silent_p.G781G|MAP4K4_uc002tbh.2_Silent_p.G703G|MAP4K4_uc002tbi.2_Silent_p.G588G|MAP4K4_uc010yvz.1_Silent_p.G761G|MAP4K4_uc002tbk.2_Silent_p.G240G|MAP4K4_uc002tbl.2_5'UTR	1,1,1	1			p.G785G	NM_145687	NP_663720			1,1,1	M4K4_HUMAN	MAP4K4	HGNC	O95819	M4K4_HUMAN			Q53TW0_HUMAN,E7ETN6_HUMAN		20	2410	+			UPI00000747E2	785					SNV	MAP4K4,synonymous_variant,p.=,ENST00000413150,NM_004834.4,NM_001242560.1;MAP4K4,synonymous_variant,p.=,ENST00000425019,NM_145686.3;MAP4K4,synonymous_variant,p.=,ENST00000417294,;MAP4K4,synonymous_variant,p.=,ENST00000324219,;MAP4K4,synonymous_variant,p.=,ENST00000350878,;MAP4K4,synonymous_variant,p.=,ENST00000456652,;MAP4K4,synonymous_variant,p.=,ENST00000347699,NM_145687.3,NM_001242559.1;MAP4K4,synonymous_variant,p.=,ENST00000350198,;MAP4K4,synonymous_variant,p.=,ENST00000421882,;MAP4K4,synonymous_variant,p.=,ENST00000302217,;MAP4K4,downstream_gene_variant,,ENST00000418101,;MAP4K4,non_coding_transcript_exon_variant,,ENST00000498066,;MAP4K4,non_coding_transcript_exon_variant,,ENST00000491743,;MAP4K4,downstream_gene_variant,,ENST00000477711,;	uc002tbg.2	c.2355G>A	2355/3792	1	1			c.2355G>A						2	SNP	c.(2353-2355)GGG>GGA	64	64			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Broad	mitogen-activated protein kinase kinase kinase			102486218		0.572	ENSG00000071054	9090	g.chr2:102486218G>A	intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			483			483	20.755786	KEEP	3	4	-1	2	1	3	4	-1	20.979964	2	1	0.666667	1	0	0	0	0	0	0	1	0	--	--		0	A			MAP4K4_uc002tbc.2_Silent_p.G866G|MAP4K4_uc002tbd.2_Silent_p.G758G|MAP4K4_uc002tbe.2_Silent_p.G704G|MAP4K4_uc002tbf.2_Silent_p.G755G|MAP4K4_uc010yvy.1_Silent_p.G781G|MAP4K4_uc002tbh.2_Silent_p.G703G|MAP4K4_uc002tbi.2_Silent_p.G588G|MAP4K4_uc010yvz.1_Silent_p.G761G|MAP4K4_uc002tbk.2_Silent_p.G240G|MAP4K4_uc002tbl.2_5'UTR	161	GBM-19-2619-TP	p.G785G	G	AGCAGGAAGGGGCTGACGAGT	NM_145687	NP_663720	102486218	O95819	M4K4_HUMAN	0			20	2410	+	A	A			Silent	785						
MAP4K4	0	broad.mit.edu	GRCh37	2	102483026	102483026	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2638-01	TCGA-32-2638-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000347699.4:c.2107C>T	p.Arg703Cys	p.R703C	ENST00000347699	NM_145687.3	703	Cgc/Tgc	0	T:0.0003		1			T	R/C	uc002tbg.2	protein_coding	YES	CCDS56130.1			2107/3720									stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4	c.(2107-2109)CGC>TGC			hmmpanther:PTHR24361:SF225,hmmpanther:PTHR24361	mitogen-activated protein kinase kinase kinase			T:0	ENSP00000314363		18/30	9.93E-05	0.000102		0.000232		0.000135			rs369479508,COSM3406711,COSM3406713,COSM3406712	18/30	.		ENST00000347699	Transcript			intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	ENSG00000071054	g.chr2:102483026C>T	6866			MODERATE		2.415	medium	getma.org/?cm=msa&ty=f&p=M4K4_HUMAN&rb=491&re=889&var=R703C	NA	getma.org/?cm=var&var=hg19,2,102483026,C,T&fts=all	R703C	--	--	1																																		MAP4K4_uc002tbc.2_Missense_Mutation_p.R781C|MAP4K4_uc002tbd.2_Missense_Mutation_p.R673C|MAP4K4_uc002tbe.2_Missense_Mutation_p.R619C|MAP4K4_uc002tbf.2_Missense_Mutation_p.R673C|MAP4K4_uc010yvy.1_Missense_Mutation_p.R696C|MAP4K4_uc002tbh.2_Missense_Mutation_p.R618C|MAP4K4_uc002tbi.2_Missense_Mutation_p.R503C|MAP4K4_uc010yvz.1_Missense_Mutation_p.R676C|MAP4K4_uc002tbk.2_Missense_Mutation_p.R158C|MAP4K4_uc002tbl.2_Translation_Start_Site	0,1,1,1	1		probably_damaging(0.985)	p.R703C	NM_145687	NP_663720		deleterious_low_confidence(0)	0,1,1,1	M4K4_HUMAN	MAP4K4	HGNC	O95819	M4K4_HUMAN			Q53TW0_HUMAN,E7ETN6_HUMAN		18	2162	+			UPI00000747E2	703					SNV	MAP4K4,missense_variant,p.Arg618Cys,ENST00000413150,NM_004834.4,NM_001242560.1;MAP4K4,missense_variant,p.Arg672Cys,ENST00000425019,NM_145686.3;MAP4K4,missense_variant,p.Arg634Cys,ENST00000417294,;MAP4K4,missense_variant,p.Arg781Cys,ENST00000324219,;MAP4K4,missense_variant,p.Arg676Cys,ENST00000350878,;MAP4K4,missense_variant,p.Arg502Cys,ENST00000456652,;MAP4K4,missense_variant,p.Arg703Cys,ENST00000347699,NM_145687.3,NM_001242559.1;MAP4K4,missense_variant,p.Arg619Cys,ENST00000350198,;MAP4K4,missense_variant,p.Arg520Cys,ENST00000421882,;MAP4K4,missense_variant,p.Arg503Cys,ENST00000302217,;MAP4K4,downstream_gene_variant,,ENST00000418101,;MAP4K4,upstream_gene_variant,,ENST00000498066,;MAP4K4,non_coding_transcript_exon_variant,,ENST00000477711,;MAP4K4,downstream_gene_variant,,ENST00000476609,;MAP4K4,upstream_gene_variant,,ENST00000491743,;	uc002tbg.2	c.2107C>T	2107/3792	2	2			c.2107C>T						2	SNP	c.(2107-2109)CGC>TGC	30	30			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Broad	mitogen-activated protein kinase kinase kinase			102483026		0.532	ENSG00000071054	9090	g.chr2:102483026C>T	intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			483			483	67.644586	KEEP	13	13	-1	40	24	13	13	-1	70.867304	40	24	0.294118	1	0	0	0	0	1	0	0	0	--	--		0	T			MAP4K4_uc002tbc.2_Missense_Mutation_p.R781C|MAP4K4_uc002tbd.2_Missense_Mutation_p.R673C|MAP4K4_uc002tbe.2_Missense_Mutation_p.R619C|MAP4K4_uc002tbf.2_Missense_Mutation_p.R673C|MAP4K4_uc010yvy.1_Missense_Mutation_p.R696C|MAP4K4_uc002tbh.2_Missense_Mutation_p.R618C|MAP4K4_uc002tbi.2_Missense_Mutation_p.R503C|MAP4K4_uc010yvz.1_Missense_Mutation_p.R676C|MAP4K4_uc002tbk.2_Missense_Mutation_p.R158C|MAP4K4_uc002tbl.2_Translation_Start_Site	242	GBM-32-2638-TP	p.R703C	C	CTCCGGGGAACGCTTCAGAGT	NM_145687	NP_663720	102483026	O95819	M4K4_HUMAN	0			18	2162	+	T	T			Missense_Mutation	703						
MAP4K4	0	broad.mit.edu	GRCh37	2	102440436	102440436	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-87-5896-01	TCGA-87-5896-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000347699.4:c.227A>T	p.Tyr76Phe	p.Y76F	ENST00000347699	NM_145687.3	76	tAc/tTc	0			1			T	Y/F	uc002tbg.2	protein_coding	YES	CCDS56130.1			227/3720									stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4	c.(226-228)TAC>TTC			PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF225,hmmpanther:PTHR24361,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	mitogen-activated protein kinase kinase kinase				ENSP00000314363		30-Apr									COSM3406708,COSM3406710,COSM3406709	30-Apr	.		ENST00000347699	Transcript			intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	ENSG00000071054	g.chr2:102440436A>T	6866			MODERATE		-0.435	neutral	getma.org/?cm=msa&ty=f&p=M4K4_HUMAN&rb=25&re=289&var=Y76F	getma.org/pdb.php?prot=M4K4_HUMAN&from=25&to=289&var=Y76F	getma.org/?cm=var&var=hg19,2,102440436,A,T&fts=all	Y76F	--	--	1																																		MAP4K4_uc002tbc.2_Missense_Mutation_p.Y76F|MAP4K4_uc002tbd.2_Missense_Mutation_p.Y76F|MAP4K4_uc002tbe.2_Missense_Mutation_p.Y76F|MAP4K4_uc002tbf.2_Missense_Mutation_p.Y76F|MAP4K4_uc010yvy.1_Missense_Mutation_p.Y76F|MAP4K4_uc002tbh.2_Missense_Mutation_p.Y76F|MAP4K4_uc002tbi.2_Missense_Mutation_p.Y76F|MAP4K4_uc010yvz.1_Missense_Mutation_p.Y56F|MAP4K4_uc010fiw.1_Intron|MAP4K4_uc002tbj.1_5'Flank	1,1,1	1		unknown(0)	p.Y76F	NM_145687	NP_663720		deleterious_low_confidence(0)	1,1,1	M4K4_HUMAN	MAP4K4	HGNC	O95819	M4K4_HUMAN			Q53TW0_HUMAN,E7ETN6_HUMAN		4	282	+			UPI00000747E2	76			Protein kinase.		SNV	MAP4K4,missense_variant,p.Tyr76Phe,ENST00000413150,NM_004834.4,NM_001242560.1;MAP4K4,missense_variant,p.Tyr76Phe,ENST00000425019,NM_145686.3;MAP4K4,missense_variant,p.Tyr38Phe,ENST00000417294,;MAP4K4,missense_variant,p.Tyr76Phe,ENST00000324219,;MAP4K4,missense_variant,p.Tyr56Phe,ENST00000350878,;MAP4K4,missense_variant,p.Tyr76Phe,ENST00000456652,;MAP4K4,missense_variant,p.Tyr76Phe,ENST00000347699,NM_145687.3,NM_001242559.1;MAP4K4,missense_variant,p.Tyr76Phe,ENST00000350198,;MAP4K4,missense_variant,p.Tyr76Phe,ENST00000302217,;MAP4K4,missense_variant,p.Tyr76Phe,ENST00000427603,;MAP4K4,non_coding_transcript_exon_variant,,ENST00000496989,;MAP4K4,upstream_gene_variant,,ENST00000476609,;MAP4K4,upstream_gene_variant,,ENST00000489490,;	uc002tbg.2	c.227A>T	227/3792	1	1			c.227A>T						2	SNP	c.(226-228)TAC>TTC	1	1			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Broad	mitogen-activated protein kinase kinase kinase			102440436		0.368	ENSG00000071054	9090	g.chr2:102440436A>T	intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			483			483	11.60427	KEEP	2	2	-1	2	6	2	2	-1	11.895359	2	6	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	T			MAP4K4_uc002tbc.2_Missense_Mutation_p.Y76F|MAP4K4_uc002tbd.2_Missense_Mutation_p.Y76F|MAP4K4_uc002tbe.2_Missense_Mutation_p.Y76F|MAP4K4_uc002tbf.2_Missense_Mutation_p.Y76F|MAP4K4_uc010yvy.1_Missense_Mutation_p.Y76F|MAP4K4_uc002tbh.2_Missense_Mutation_p.Y76F|MAP4K4_uc002tbi.2_Missense_Mutation_p.Y76F|MAP4K4_uc010yvz.1_Missense_Mutation_p.Y56F|MAP4K4_uc010fiw.1_Intron|MAP4K4_uc002tbj.1_5'Flank	291	GBM-87-5896-TP	p.Y76F	A	CTAAAGAAATACTCTCATCAC	NM_145687	NP_663720	102440436	O95819	M4K4_HUMAN	0			4	282	+	T	T			Missense_Mutation	76			Protein kinase.			
MAP6	4135	broad.mit.edu	GRCh37	11	75316902	75316902	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2569-01	TCGA-06-2569-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304771.3:c.1267G>A	p.Asp423Asn	p.D423N	ENST00000304771	NM_033063.1	423	Gac/Aac	0			1			T	D/N	uc001owu.2	protein_coding	YES	CCDS31641.1			1267/2442										0	c.(1267-1269)GAC>AAC			hmmpanther:PTHR14759,hmmpanther:PTHR14759:SF2	microtubule-associated protein 6 isoform 1				ENSP00000307093		4-Mar	3.29E-05	9.61E-05				4.50E-05			rs201737872,COSM3398137	4-Mar	.		ENST00000304771	Transcript				Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	ENSG00000171533	g.chr11:75316902C>T	6868			MODERATE		0.74	neutral	getma.org/?cm=msa&ty=f&p=MAP6_HUMAN&rb=372&re=451&var=D423N	NA	getma.org/?cm=var&var=hg19,11,75316902,C,T&fts=all	D423N	--	--	1																																		MAP6_uc001owv.2_Missense_Mutation_p.D423N	0,1	1		benign(0.001)	p.D423N	NM_033063	NP_149052		tolerated(0.09)	0,1	MAP6_HUMAN	MAP6	HGNC	Q96JE9	MAP6_HUMAN			Q6ZWB8_HUMAN		3	1332	-	Ovarian(111;0.11)		UPI0000251E6A	423					SNV	MAP6,missense_variant,p.Asp423Asn,ENST00000434603,NM_207577.1;MAP6,missense_variant,p.Asp423Asn,ENST00000304771,NM_033063.1;MAP6,missense_variant,p.Asp94Asn,ENST00000526740,;	uc001owu.2	c.1267G>A	2018/3334	2	2			c.1267G>A						11	SNP	c.(1267-1269)GAC>AAC	21	21				0	Broad	microtubule-associated protein 6 isoform 1			75316902		0.542	ENSG00000171533	9092	g.chr11:75316902C>T		Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	Esophageal Squamous(181;1115 2007 8647 17065 22697)			Esophageal Squamous(181;1115 2007 8647 17065 22697)			302.377484	KEEP	61	53	-1	76	80	61	53	-1	302.956157	76	80	0.444444	1	0	0	0	0	1	0	0	0	--	--		0	T			MAP6_uc001owv.2_Missense_Mutation_p.D423N	90	GBM-06-2569-TP	p.D423N	C	TGCTCCTTGTCGTCTGGCTTG	NM_033063	NP_149052	75316902	Q96JE9	MAP6_HUMAN	0			3	1332	-	T	T	Ovarian(111;0.11)		Missense_Mutation	423						
MAP7	0	broad.mit.edu	GRCh37	6	136682257	136682257	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2632-01	TCGA-32-2632-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354570.3:c.1587G>A	p.Glu529=	p.E529=	ENST00000354570	NM_001198616.1	529	gaG/gaA	0			1			T	E	uc003qgz.2	protein_coding		CCDS5178.1			1587/2250										0	c.(1585-1587)GAG>GAA			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF05672,hmmpanther:PTHR15073,hmmpanther:PTHR15073:SF4	microtubule-associated protein 7				ENSP00000346581		18-Dec									COSM3410611	18-Dec	.		ENST00000354570	Transcript			establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	ENSG00000135525	g.chr6:136682257C>T	6869			LOW								--	--	1																																		MAP7_uc011edf.1_Silent_p.E514E|MAP7_uc011edg.1_Silent_p.E559E|MAP7_uc010kgu.2_Silent_p.E551E|MAP7_uc011edh.1_Silent_p.E514E|MAP7_uc010kgv.2_Silent_p.E551E|MAP7_uc010kgs.2_Silent_p.E383E|MAP7_uc011edi.1_Silent_p.E383E|MAP7_uc010kgq.1_Silent_p.E435E|MAP7_uc003qha.1_Silent_p.E492E	1				p.E529E	NM_003980	NP_003971			1	MAP7_HUMAN	MAP7	HGNC	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)			12	1833	-	Colorectal(23;0.24)		UPI0000072AD5	529			Potential.		SNV	MAP7,synonymous_variant,p.=,ENST00000354570,NM_001198616.1,NM_003980.4,NM_001198617.1,NM_001198619.1;MAP7,synonymous_variant,p.=,ENST00000454590,NM_001198614.1,NM_001198609.1,NM_001198608.1;MAP7,synonymous_variant,p.=,ENST00000432797,NM_001198618.1;MAP7,synonymous_variant,p.=,ENST00000544465,NM_001198615.1;MAP7,synonymous_variant,p.=,ENST00000438100,NM_001198611.1;RP3-406A7.3,upstream_gene_variant,,ENST00000571188,;RP3-406A7.3,upstream_gene_variant,,ENST00000407767,;	uc003qgz.2	c.1587G>A	1998/4152	2	2			c.1587G>A						6	SNP	c.(1585-1587)GAG>GAA	35	35				0	Broad	microtubule-associated protein 7			136682257		0.617	ENSG00000135525	9093	g.chr6:136682257C>T	establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity							10.12006	KEEP	3	3	-1	29	17	3	3	-1	16.469045	29	17	0.12766	1	0	0	0	0	0	0	1	0	--	--		0	T			MAP7_uc011edf.1_Silent_p.E514E|MAP7_uc011edg.1_Silent_p.E559E|MAP7_uc010kgu.2_Silent_p.E551E|MAP7_uc011edh.1_Silent_p.E514E|MAP7_uc010kgv.2_Silent_p.E551E|MAP7_uc010kgs.2_Silent_p.E383E|MAP7_uc011edi.1_Silent_p.E383E|MAP7_uc010kgq.1_Silent_p.E435E|MAP7_uc003qha.1_Silent_p.E492E	240	GBM-32-2632-TP	p.E529E	C	TGCGCGACTCCTCCTCACGGC	NM_003980	NP_003971	136682257	Q14244	MAP7_HUMAN	0		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	12	1833	-	T	T	Colorectal(23;0.24)		Silent	529			Potential.			
MAP7D1	55700	broad.mit.edu	GRCh37	1	36636835	36636835	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs2296266	byFrequency;by1000genomes	TCGA-06-0875-01	TCGA-06-0875-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373151.2:c.310C>T	p.Arg104Trp	p.R104W	ENST00000373151	NM_018067.3	104	Cgg/Tgg	0	T:0.0011	T:0	1	T:0		T	R/W	uc001bzz.2	protein_coding	YES	CCDS30673.1			310/2526									ovary(3)|breast(2)	5	c.(310-312)CGG>TGG			Low_complexity_(Seg):seg,hmmpanther:PTHR15073:SF2,hmmpanther:PTHR15073	MAP7 domain containing 1		T:0.0437	T:0.0001	ENSP00000362244	T:0	17-Feb	0.00629	0.00111	0.000608	0.0403		0.000232	0.00814	0.0245	rs2296266,COSM2152021	17-Feb	common_variant		ENST00000373151	Transcript		T:0.0144		cytoplasm|spindle		ENSG00000116871	g.chr1:36636835C>T	25514			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=MA7D1_HUMAN&rb=1&re=200&var=R104W	NA	getma.org/?cm=var&var=hg19,1,36636835,C,T&fts=all	R104W	--	--	1																																		MAP7D1_uc001caa.2_Missense_Mutation_p.R104W|MAP7D1_uc001cab.2_Missense_Mutation_p.R104W|MAP7D1_uc001cac.2_5'Flank	0,1	1		probably_damaging(0.976)	p.R104W	NM_018067	NP_060537	T:0.0286		0,1	MA7D1_HUMAN	MAP7D1	HGNC	Q3KQU3	MA7D1_HUMAN			E9PLH3_HUMAN,D3DPS3_HUMAN,C9JIR3_HUMAN		2	526	+		Myeloproliferative disorder(586;0.0393)	UPI00005C3036	104			Pro-rich.		SNV	MAP7D1,missense_variant,p.Arg104Trp,ENST00000316156,NM_001286365.1;MAP7D1,missense_variant,p.Arg104Trp,ENST00000373151,NM_018067.3;MAP7D1,missense_variant,p.Arg104Trp,ENST00000373150,NM_001286366.1;MAP7D1,missense_variant,p.Arg65Trp,ENST00000429533,;MAP7D1,missense_variant,p.Arg65Trp,ENST00000530729,;MAP7D1,upstream_gene_variant,,ENST00000474796,;MAP7D1,non_coding_transcript_exon_variant,,ENST00000527764,;MAP7D1,upstream_gene_variant,,ENST00000462118,;	uc001bzz.2	c.310C>T	526/3324	1	1			c.310C>T						1	SNP	c.(310-312)CGG>TGG	10	10			ovary(3)|breast(2)	5	Broad	MAP7 domain containing 1			36636835		0.662	ENSG00000116871	9094	g.chr1:36636835C>T		cytoplasm|spindle								109.523027	KEEP	19	29	-1	20	36	19	29	-1	109.523027	20	36	0.5	1	0	0	0	0	1	0	0	0	--	--		0	T			MAP7D1_uc001caa.2_Missense_Mutation_p.R104W|MAP7D1_uc001cab.2_Missense_Mutation_p.R104W|MAP7D1_uc001cac.2_5'Flank	71	GBM-06-0875-TP	p.R104W	C	CATGGGCCCACGGGATGCCAG	NM_018067	NP_060537	36636835	Q3KQU3	MA7D1_HUMAN	0			2	526	+	T	T		Myeloproliferative disorder(586;0.0393)	Missense_Mutation	104			Pro-rich.			
MAPK1	0	broad.mit.edu	GRCh37	22	22142632	22142632	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-4928-01	TCGA-76-4928-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000215832.6:c.770A>G	p.Asn257Ser	p.N257S	ENST00000215832	NM_002745.4	257	aAt/aGt	0			1			C	N/S	uc002zvn.2	protein_coding	YES	CCDS13795.1			770/1083									upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	c.(769-771)AAT>AGT			PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF161,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112,Prints_domain:PR01770	mitogen-activated protein kinase 1	Arsenic trioxide(DB01169)			ENSP00000215832		9-Jun									COSM3405536	9-Jun	.		ENST00000215832	Transcript	1		activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	ENSG00000100030	g.chr22:22142632T>C	6871			MODERATE		0.68	neutral	getma.org/?cm=msa&ty=f&p=MK01_HUMAN&rb=25&re=313&var=N257S	getma.org/pdb.php?prot=MK01_HUMAN&from=25&to=313&var=N257S	getma.org/?cm=var&var=hg19,22,22142632,T,C&fts=all	N257S	--	--	1																																		MAPK1_uc002zvo.2_Missense_Mutation_p.N257S|MAPK1_uc010gtk.1_Intron	1	1		benign(0.221)	p.N257S	NM_002745	NP_002736		tolerated(1)	1	MK01_HUMAN	MAPK1	HGNC	P28482	MK01_HUMAN		READ - Rectum adenocarcinoma(21;0.0689)	Q1HBJ4_HUMAN,B4DHN0_HUMAN		6	1010	-	Colorectal(54;0.105)	all_lung(157;3.89e-05)	UPI000000104F	257			Protein kinase.		SNV	MAPK1,missense_variant,p.Asn257Ser,ENST00000215832,NM_002745.4;MAPK1,missense_variant,p.Asn257Ser,ENST00000398822,NM_138957.2;MAPK1,intron_variant,,ENST00000544786,;RNA5SP493,upstream_gene_variant,,ENST00000364115,;	uc002zvn.2	c.770A>G	959/11022	4	4			c.770A>G						22	SNP	c.(769-771)AAT>AGT	45	45			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	Broad	mitogen-activated protein kinase 1		Arsenic trioxide(DB01169)	22142632		0.353	ENSG00000100030	9098	g.chr22:22142632T>C	activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity			164			164	97.551283	KEEP	19	13	-1	43	47	19	13	-1	103.120294	43	47	0.271186	1	0	0	0	0	1	0	0	0	--	--		0	C			MAPK1_uc002zvo.2_Missense_Mutation_p.N257S|MAPK1_uc010gtk.1_Intron	268	GBM-76-4928-TP	p.N257S	T	AGCTTTTAAATTTATTATACA	NM_002745	NP_002736	22142632	P28482	MK01_HUMAN	0		READ - Rectum adenocarcinoma(21;0.0689)	6	1010	-	C	C	Colorectal(54;0.105)	all_lung(157;3.89e-05)	Missense_Mutation	257			Protein kinase.			
MAPK13	5603	broad.mit.edu	GRCh37	6	36099124	36099124	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01	TCGA-06-0192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000211287.4:c.196G>A	p.Ala66Thr	p.A66T	ENST00000211287	NM_002754.4	66	Gcc/Acc	0			1			A	A/T	uc003ols.2	protein_coding	YES	CCDS4818.1			196/1098									breast(2)|central_nervous_system(1)	3	c.(196-198)GCC>ACC			PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF107,PROSITE_patterns:PS01351,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	mitogen-activated protein kinase 13				ENSP00000211287		12-Feb	8.24E-06	9.70E-05							rs776053641,COSM2150637,COSM2150636	12-Feb	.		ENST00000211287	Transcript			cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding	ENSG00000156711	g.chr6:36099124G>A	6875			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=MK13_HUMAN&rb=25&re=308&var=A66T	getma.org/pdb.php?prot=MK13_HUMAN&from=25&to=308&var=A66T	getma.org/?cm=var&var=hg19,6,36099124,G,A&fts=all	A66T	--	--	1																																		MAPK13_uc003olt.2_RNA	0,1,1	1		probably_damaging(0.999)	p.A66T	NM_002754	NP_002745		deleterious(0.02)	0,1,1	MK13_HUMAN	MAPK13	HGNC	O15264	MK13_HUMAN					2	294	+			UPI000012F182	66			Protein kinase.		SNV	MAPK13,missense_variant,p.Ala66Thr,ENST00000211287,NM_002754.4;MAPK13,missense_variant,p.Ala66Thr,ENST00000373761,;MAPK13,missense_variant,p.Ala66Thr,ENST00000373766,;MAPK13,5_prime_UTR_variant,,ENST00000373759,;MAPK13,non_coding_transcript_exon_variant,,ENST00000490334,;MAPK13,non_coding_transcript_exon_variant,,ENST00000476951,;	uc003ols.2	c.196G>A	458/2052	1	1			c.196G>A						6	SNP	c.(196-198)GCC>ACC	59	59			breast(2)|central_nervous_system(1)	3	Broad	mitogen-activated protein kinase 13			36099124		0.662	ENSG00000156711	9102	g.chr6:36099124G>A	cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			208			208	81.361518	KEEP	26	20	-1	70	52	26	20	-1	88.080205	70	52	0.261538	1	0	0	0	0	1	0	0	0	--	--		0	A			MAPK13_uc003olt.2_RNA	44	GBM-06-0192-TP	p.A66T	G	CGAGATCTTCGCCAAGCGCGC	NM_002754	NP_002745	36099124	O15264	MK13_HUMAN	0			2	294	+	A	A			Missense_Mutation	66			Protein kinase.			
MAPK15	0	broad.mit.edu	GRCh37	8	144801639	144801639	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-2554-01	TCGA-14-2554-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338033.4:c.708G>A	p.Pro236=	p.P236=	ENST00000338033	NM_139021.2	236	ccG/ccA	0			1			A	P	uc003yzj.2	protein_coding	YES	CCDS6409.2			708/1635									lung(2)	2	c.(706-708)CCG>CCA			PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF79,Gene3D:1.10.510.10,Pfam_domain:PF00069,Superfamily_domains:SSF56112	mitogen-activated protein kinase 15				ENSP00000337691		14-Jul	5.77E-05		0.000174					0.000312	rs782526771,COSM2868582	14-Jul	.		ENST00000338033	Transcript			protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding	ENSG00000181085	g.chr8:144801639G>A	24667			LOW								--	--	1																																			0,1	1			p.P236P	NM_139021	NP_620590			0,1	MK15_HUMAN	MAPK15	HGNC	Q8TD08	MK15_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)				7	749	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		UPI00000496E7	236			Protein kinase.		SNV	MAPK15,synonymous_variant,p.=,ENST00000338033,NM_139021.2;MAPK15,synonymous_variant,p.=,ENST00000395107,;MAPK15,synonymous_variant,p.=,ENST00000395108,;FAM83H,downstream_gene_variant,,ENST00000388913,NM_198488.3;RP11-429J17.5,upstream_gene_variant,,ENST00000527908,;MAPK15,non_coding_transcript_exon_variant,,ENST00000484654,;FAM83H,downstream_gene_variant,,ENST00000395103,;MAPK15,upstream_gene_variant,,ENST00000461928,;MAPK15,upstream_gene_variant,,ENST00000533830,;MAPK15,upstream_gene_variant,,ENST00000528175,;MAPK15,downstream_gene_variant,,ENST00000475376,;	uc003yzj.2	c.708G>A	827/1961	2	2			c.708G>A						8	SNP	c.(706-708)CCG>CCA	43	43			lung(2)	2	Broad	mitogen-activated protein kinase 15			144801639		0.662	ENSG00000181085	9104	g.chr8:144801639G>A	protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding		p.P236P(SW48-Tumor)	103		p.P236P(SW48-Tumor)	103	27.980429	KEEP	7	8	-1	24	23	7	8	-1	31.062268	24	23	0.24	1	0	0	0	0	0	0	1	0	--	--		0	A				150	GBM-14-2554-TP	p.P236P	G	CCATCCCACCGCCATCTGAGG	NM_139021	NP_620590	144801639	Q8TD08	MK15_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		7	749	+	A	A	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Silent	236			Protein kinase.			
MAPK15	0	broad.mit.edu	GRCh37	8	144801307	144801307	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-16-0846-01	TCGA-16-0846-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338033.4:c.562G>T	p.Val188Leu	p.V188L	ENST00000338033	NM_139021.2	188	Gtg/Ttg	0			1			T	V/L	uc003yzj.2	protein_coding	YES	CCDS6409.2			562/1635									lung(2)	2	c.(562-564)GTG>TTG			PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF79,Gene3D:1.10.510.10,Pfam_domain:PF00069,Superfamily_domains:SSF56112	mitogen-activated protein kinase 15				ENSP00000337691		14-Jun									COSM3412806	14-Jun	.		ENST00000338033	Transcript			protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding	ENSG00000181085	g.chr8:144801307G>T	24667			MODERATE		-0.095	neutral	getma.org/?cm=msa&ty=f&p=MK15_HUMAN&rb=13&re=304&var=V188L	getma.org/pdb.php?prot=MK15_HUMAN&from=13&to=304&var=V188L	getma.org/?cm=var&var=hg19,8,144801307,G,T&fts=all	V188L	--	--	1																																			1	1		possibly_damaging(0.863)	p.V188L	NM_139021	NP_620590		deleterious(0.02)	1	MK15_HUMAN	MAPK15	HGNC	Q8TD08	MK15_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)				6	603	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		UPI00000496E7	188			Protein kinase.		SNV	MAPK15,missense_variant,p.Val188Leu,ENST00000338033,NM_139021.2;MAPK15,missense_variant,p.Val205Leu,ENST00000395107,;MAPK15,missense_variant,p.Val188Leu,ENST00000395108,;FAM83H,downstream_gene_variant,,ENST00000388913,NM_198488.3;RP11-429J17.5,upstream_gene_variant,,ENST00000527908,;MAPK15,non_coding_transcript_exon_variant,,ENST00000484654,;FAM83H,downstream_gene_variant,,ENST00000395103,;MAPK15,upstream_gene_variant,,ENST00000461928,;MAPK15,upstream_gene_variant,,ENST00000533830,;MAPK15,upstream_gene_variant,,ENST00000528175,;MAPK15,downstream_gene_variant,,ENST00000475376,;	uc003yzj.2	c.562G>T	681/1961	1	1			c.562G>T						8	SNP	c.(562-564)GTG>TTG	3	3			lung(2)	2	Broad	mitogen-activated protein kinase 15			144801307		0.687	ENSG00000181085	9104	g.chr8:144801307G>T	protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			103			103	23.130183	KEEP	2	6	0.25	3	2	2	6	0.25	23.204268	3	2	0.583333	1	0	0	0	0	1	0	0	0	--	--		0	T				155	GBM-16-0846-TP	p.V188L	G	AGCACCGGAGGTGCTGCTCTC	NM_139021	NP_620590	144801307	Q8TD08	MK15_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		6	603	+	T	T	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	188			Protein kinase.			
MAPK1IP1L	93487	broad.mit.edu	GRCh37	14	55529424	55529424	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0646-01	TCGA-06-0646-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395468.4:c.107G>T	p.Gly36Val	p.G36V	ENST00000395468	NM_144578.3	36	gGc/gTc	0			1			T	G/V	uc001xbq.1	protein_coding	YES	CCDS32085.1			107/738										0	c.(106-108)GGC>GTC			Low_complexity_(Seg):seg	MAPK-interacting and spindle-stabilizing				ENSP00000378851		4-Mar									COSM2151310	4-Mar	.		ENST00000395468	Transcript						ENSG00000168175	g.chr14:55529424G>T	19840			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=MISSL_HUMAN&rb=1&re=243&var=G36V	NA	getma.org/?cm=var&var=hg19,14,55529424,G,T&fts=all	G36V	--	--	1																																			1	1		possibly_damaging(0.58)	p.G36V	NM_144578	NP_653179		deleterious_low_confidence(0.03)	1	MISSL_HUMAN	MAPK1IP1L	HGNC	Q8NDC0	MISSL_HUMAN					3	271	+			UPI0000034E1F	36			Pro-rich.		SNV	MAPK1IP1L,missense_variant,p.Gly36Val,ENST00000395468,NM_144578.3;MAPK1IP1L,non_coding_transcript_exon_variant,,ENST00000554364,;MAPK1IP1L,downstream_gene_variant,,ENST00000556515,;MAPK1IP1L,upstream_gene_variant,,ENST00000553976,;	uc001xbq.1	c.107G>T	284/6480	2	2			c.107G>T						14	SNP	c.(106-108)GGC>GTC	45	45				0	Broad	MAPK-interacting and spindle-stabilizing			55529424		0.537	ENSG00000168175	9105	g.chr14:55529424G>T										115.451659	KEEP	26	17	0.604651163	11	6	26	17	0.604651163	118.152459	11	6	0.74	1	0	0	0	0	1	0	0	0	--	--		0	T				60	GBM-06-0646-TP	p.G36V	G	GGCTGGCCAGGCTCCAACCCT	NM_144578	NP_653179	55529424	Q8NDC0	MISSL_HUMAN	0			3	271	+	T	T			Missense_Mutation	36			Pro-rich.			
MAPK3	0	broad.mit.edu	GRCh37	16	30128054	30128054	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6193-01	TCGA-76-6193-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263025.4:c.1075C>T	p.Arg359Trp	p.R359W	ENST00000263025	NM_002746.2	359	Cgg/Tgg	0			1			A	R/W	uc002dws.2	protein_coding	YES	CCDS10672.1			1075/1140								p.R359W(1)		0	c.(1075-1077)CGG>TGG			hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF111	mitogen-activated protein kinase 3 isoform 1	Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)			ENSP00000263025		9-Aug	3.29E-05			0.000466					rs777053157,COSM3402266,COSM99215	9-Aug	common_variant		ENST00000263025	Transcript			activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding	ENSG00000102882	g.chr16:30128054G>A	6877			MODERATE		2.22	medium	getma.org/?cm=msa&ty=f&p=MK03_HUMAN&rb=331&re=379&var=R359W	getma.org/pdb.php?prot=MK03_HUMAN&from=331&to=379&var=R359W	getma.org/?cm=var&var=hg19,16,30128054,G,A&fts=all	R359W	--	--	1																																		uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.2_Missense_Mutation_p.R245W|MAPK3_uc002dwv.3_Missense_Mutation_p.R315W|MAPK3_uc002dwt.2_3'UTR|MAPK3_uc002dwu.2_RNA|MAPK3_uc010bzp.2_RNA	0,1,1	1		possibly_damaging(0.477)	p.R359W	NM_002746	NP_002737		deleterious(0.01)	0,1,1	MK03_HUMAN	MAPK3	HGNC	P27361	MK03_HUMAN			Q9BWJ1_HUMAN,Q7Z3H5_HUMAN,L7RXH5_HUMAN,H0YEX6_HUMAN,H0YDH9_HUMAN,E9PRH7_HUMAN,B3KR49_HUMAN		8	1175	-			UPI0000000DD7	359					SNV	MAPK3,missense_variant,p.Arg245Trp,ENST00000484663,;MAPK3,missense_variant,p.Arg359Trp,ENST00000263025,NM_002746.2;MAPK3,missense_variant,p.Arg315Trp,ENST00000322266,NM_001109891.1;MAPK3,missense_variant,p.Arg315Trp,ENST00000395202,;MAPK3,missense_variant,p.Arg291Trp,ENST00000395200,;MAPK3,missense_variant,p.Arg122Trp,ENST00000478356,;MAPK3,3_prime_UTR_variant,,ENST00000403394,;GDPD3,upstream_gene_variant,,ENST00000406256,NM_024307.2;MAPK3,downstream_gene_variant,,ENST00000395199,NM_001040056.2;MAPK3,downstream_gene_variant,,ENST00000481230,;MAPK3,upstream_gene_variant,,ENST00000494643,;MAPK3,missense_variant,p.Arg101Trp,ENST00000461737,;MAPK3,synonymous_variant,p.=,ENST00000490298,;MAPK3,3_prime_UTR_variant,,ENST00000466521,;MAPK3,non_coding_transcript_exon_variant,,ENST00000485579,;MAPK3,non_coding_transcript_exon_variant,,ENST00000473431,;GDPD3,upstream_gene_variant,,ENST00000360688,;MAPK3,downstream_gene_variant,,ENST00000483869,;	uc002dws.2	c.1075C>T	1160/1861	1	1			c.1075C>T						16	SNP	c.(1075-1077)CGG>TGG	62	62		p.R359W(1)		0	Broad	mitogen-activated protein kinase 3 isoform 1		Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	30128054		0.642	ENSG00000102882	9106	g.chr16:30128054G>A	activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding			91			91	30.001011	KEEP	11	4	-1	36	19	11	4	-1	35.084281	36	19	0.217391	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.2_Missense_Mutation_p.R245W|MAPK3_uc002dwv.3_Missense_Mutation_p.R315W|MAPK3_uc002dwt.2_3'UTR|MAPK3_uc002dwu.2_RNA|MAPK3_uc010bzp.2_RNA	276	GBM-76-6193-TP	p.R359W	G	TCCTTCAGCCGCTCCTTAGGT	NM_002746	NP_002737	30128054	P27361	MK03_HUMAN	0			8	1175	-	A	A			Missense_Mutation	359						
MAPK7	0	broad.mit.edu	GRCh37	17	19284297	19284297	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01	TCGA-12-3650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308406.5:c.775C>T	p.Arg259Cys	p.R259C	ENST00000308406	NM_139033.2	259	Cgc/Tgc	0			1			T	R/C	uc002gvn.2	protein_coding	YES	CCDS11206.1			775/2451									central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9	c.(775-777)CGC>TGC			Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF7,SMART_domains:SM00220,Superfamily_domains:SSF56112	mitogen-activated protein kinase 7 isoform 1				ENSP00000311005		7-Apr									COSM3402655	7-Apr	.		ENST00000308406	Transcript			cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	ENSG00000166484	g.chr17:19284297C>T	6880			MODERATE		2.46	medium	getma.org/?cm=msa&ty=f&p=MK07_HUMAN&rb=55&re=347&var=R259C	getma.org/pdb.php?prot=MK07_HUMAN&from=55&to=347&var=R259C	getma.org/?cm=var&var=hg19,17,19284297,C,T&fts=all	R259C	--	--	1																																		B9D1_uc010cqm.1_5'Flank|B9D1_uc002gvl.3_5'Flank|MAPK7_uc002gvo.2_Missense_Mutation_p.R120C|MAPK7_uc002gvq.2_Missense_Mutation_p.R259C|MAPK7_uc002gvp.2_Missense_Mutation_p.R259C	1	1		unknown(0)	p.R259C	NM_139033	NP_620602		deleterious(0)	1	MK07_HUMAN	MAPK7	HGNC	Q13164	MK07_HUMAN			J3KT61_HUMAN,I3L0J8_HUMAN,C9JUK9_HUMAN		4	1161	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		UPI000006FED0	259			Necessary for oligomerization (By similarity).|Protein kinase.		SNV	MAPK7,missense_variant,p.Arg259Cys,ENST00000308406,NM_139033.2;MAPK7,missense_variant,p.Arg259Cys,ENST00000395604,NM_002749.3;MAPK7,missense_variant,p.Arg259Cys,ENST00000395602,NM_139034.2;MAPK7,missense_variant,p.Arg120Cys,ENST00000299612,NM_139032.2;MAPK7,missense_variant,p.Arg120Cys,ENST00000482850,;MFAP4,downstream_gene_variant,,ENST00000395592,NM_001198695.1;MFAP4,downstream_gene_variant,,ENST00000497081,;MFAP4,downstream_gene_variant,,ENST00000299610,NM_002404.2;B9D1,upstream_gene_variant,,ENST00000477478,;B9D1,upstream_gene_variant,,ENST00000575403,NM_001243475.1;MAPK7,downstream_gene_variant,,ENST00000443215,;MAPK7,downstream_gene_variant,,ENST00000579284,;MAPK7,downstream_gene_variant,,ENST00000603493,;B9D1,upstream_gene_variant,,ENST00000487415,;MAPK7,intron_variant,,ENST00000571657,;MAPK7,intron_variant,,ENST00000573417,;MFAP4,downstream_gene_variant,,ENST00000574313,;MAPK7,downstream_gene_variant,,ENST00000572968,;B9D1,upstream_gene_variant,,ENST00000468679,;MAPK7,non_coding_transcript_exon_variant,,ENST00000570306,;MAPK7,non_coding_transcript_exon_variant,,ENST00000490660,;MAPK7,non_coding_transcript_exon_variant,,ENST00000572716,;MFAP4,downstream_gene_variant,,ENST00000571210,;B9D1,upstream_gene_variant,,ENST00000476298,;MAPK7,downstream_gene_variant,,ENST00000581260,;MAPK7,downstream_gene_variant,,ENST00000573466,;MAPK7,downstream_gene_variant,,ENST00000486905,;MAPK7,downstream_gene_variant,,ENST00000572853,;	uc002gvn.2	c.775C>T	1161/3149	2	2			c.775C>T						17	SNP	c.(775-777)CGC>TGC	48	48			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9	Broad	mitogen-activated protein kinase 7 isoform 1			19284297		0.567	ENSG00000166484	9109	g.chr17:19284297C>T	cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding		p.R259C(LS411N-Tumor)	176		p.R259C(LS411N-Tumor)	176	68.481963	KEEP	16	11	-1	31	24	16	11	-1	69.777686	31	24	0.352941	1	0	0	0	0	1	0	0	0	--	--		0	T			B9D1_uc010cqm.1_5'Flank|B9D1_uc002gvl.3_5'Flank|MAPK7_uc002gvo.2_Missense_Mutation_p.R120C|MAPK7_uc002gvq.2_Missense_Mutation_p.R259C|MAPK7_uc002gvp.2_Missense_Mutation_p.R259C	126	GBM-12-3650-TP	p.R259C	C	GCTGGCCCGGCGCCAGCTCTT	NM_139033	NP_620602	19284297	Q13164	MK07_HUMAN	0			4	1161	+	T	T	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		Missense_Mutation	259			Necessary for oligomerization (By similarity).|Protein kinase.			
MAPK8	5599		GRCh37	10	49612942	49612942	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000374189.1:c.170T>A	p.Leu57Gln	p.L57Q	ENST00000374189		57	cTa/cAa	0																																																																																																																																																																																																																																												
MAPK8IP1	9479		GRCh37	11	45927211	45927211	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000241014.2:c.2075A>G	p.Gln692Arg	p.Q692R	ENST00000241014	NM_005456.3	692	cAg/cGg	0																																																																																																																																																																																																																																												
MAPK8IP2	0	broad.mit.edu	GRCh37	22	51042339	51042340	+	frameshift_variant	Frame_Shift_Del	DEL	GC	GC	-			TCGA-41-3392-01	TCGA-41-3392-01	GC	GC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329492.3:c.612_613delCG	p.Cys204Ter	p.C204*	ENST00000329492	NM_012324.3	204	tGC/t	0			1			-	C/X	uc003bmx.2	protein_coding	YES				611-612/2472									large_intestine(2)|central_nervous_system(1)	3	c.(610-612)TGCfs				mitogen-activated protein kinase 8 interacting				ENSP00000330572		13-May										13-May	.		ENST00000329492	Transcript			behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding	ENSG00000008735	g.chr22:51042339_51042340delGC	6883	1		HIGH								--	--	1																																		MAPK8IP2_uc003bmy.2_Frame_Shift_Del_p.C177fs|MAPK8IP2_uc011asc.1_5'Flank		1			p.C204fs	NM_012324	NP_036456					MAPK8IP2	HGNC	Q13387	JIP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	J3KNN6_HUMAN,A8MTJ1_HUMAN		5	728_729	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	UPI00001AFA29	204			JNK-binding domain (JBD).		deletion	MAPK8IP2,frameshift_variant,p.Cys204Ter,ENST00000329492,NM_012324.3;MAPK8IP2,frameshift_variant,p.Cys204Ter,ENST00000442429,;MAPK8IP2,5_prime_UTR_variant,,ENST00000399908,NM_016431.3;MAPK8IP2,5_prime_UTR_variant,,ENST00000399912,;MAPK8IP2,intron_variant,,ENST00000008876,;MAPK8IP2,intron_variant,,ENST00000341339,;CHKB,upstream_gene_variant,,ENST00000463053,;	uc003bmx.2	c.611_612delGC	728-729/3358	5	5			c.611_612delGC						22	DEL	c.(610-612)TGCfs	NaN	0			large_intestine(2)|central_nervous_system(1)	3	Broad	mitogen-activated protein kinase 8 interacting			51042340		0.743	ENSG00000008735	9112	g.chr22:51042339_51042340delGC	behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			297			297														0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			MAPK8IP2_uc003bmy.2_Frame_Shift_Del_p.C177fs|MAPK8IP2_uc011asc.1_5'Flank	254	GBM-41-3392-TP	p.C204fs	GC	CGCCCGGGTTGCGACTGCGAAG	NM_012324	NP_036456	51042339	Q13387	JIP2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	5	728_729	+	-	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	Frame_Shift_Del	204			JNK-binding domain (JBD).			
MAPK8IP2	23542		GRCh37	22	51041769	51041771	+	inframe_deletion	In_Frame_Del	DEL	GAG	GAG	-			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000329492.3:c.308_310del	p.Glu103del	p.E103del	ENST00000329492	NM_012324.3	97	GAG/-	0																																																																																																																																																																																																																																												
MAPK8IP3	23162	broad.mit.edu	GRCh37	16	1815961	1815961	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-0003-01	TCGA-02-0003-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000250894.4:c.2444C>T	p.Ala815Val	p.A815V	ENST00000250894	NM_015133.3	815	gCg/gTg	0			1			T	A/V	uc002cmk.2	protein_coding	YES	CCDS10442.2			2444/4011									breast(2)|central_nervous_system(1)	3	c.(2443-2445)GCG>GTG			hmmpanther:PTHR13886,hmmpanther:PTHR13886:SF3	mitogen-activated protein kinase 8 interacting				ENSP00000250894		21/32	1.66E-05	0.000131				1.72E-05			rs761312968,COSM1559451,COSM1559452	21/32	.		ENST00000250894	Transcript			vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	ENSG00000138834	g.chr16:1815961C>T	6884			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=JIP3_HUMAN&rb=787&re=986&var=A815V	NA	getma.org/?cm=var&var=hg19,16,1815961,C,T&fts=all	A815V	--	--	1																																		MAPK8IP3_uc002cml.2_Missense_Mutation_p.A809V|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.A816V	0,1,1	1		benign(0.409)	p.A815V	NM_015133	NP_055948		tolerated(0.05)	0,1,1	JIP3_HUMAN	MAPK8IP3	HGNC	Q9UPT6	JIP3_HUMAN					21	2564	+			UPI000034ECA7	815					SNV	MAPK8IP3,missense_variant,p.Ala815Val,ENST00000250894,NM_015133.3;MAPK8IP3,missense_variant,p.Ala809Val,ENST00000356010,NM_001040439.1;NME3,downstream_gene_variant,,ENST00000219302,NM_002513.2;NME3,downstream_gene_variant,,ENST00000563498,;NME3,downstream_gene_variant,,ENST00000564628,;NME3,downstream_gene_variant,,ENST00000561637,;NME3,downstream_gene_variant,,ENST00000566600,;NME3,downstream_gene_variant,,ENST00000565379,;NME3,downstream_gene_variant,,ENST00000563367,;MAPK8IP3,upstream_gene_variant,,ENST00000563868,;MAPK8IP3,downstream_gene_variant,,ENST00000566589,;MAPK8IP3,upstream_gene_variant,,ENST00000564868,;NME3,downstream_gene_variant,,ENST00000568561,;NME3,downstream_gene_variant,,ENST00000567271,;NME3,downstream_gene_variant,,ENST00000564252,;NME3,downstream_gene_variant,,ENST00000563854,;MAPK8IP3,upstream_gene_variant,,ENST00000566064,;MAPK8IP3,upstream_gene_variant,,ENST00000567352,;MAPK8IP3,downstream_gene_variant,,ENST00000561949,;MAPK8IP3,downstream_gene_variant,,ENST00000570131,;MAPK8IP3,upstream_gene_variant,,ENST00000562042,;	uc002cmk.2	c.2444C>T	2601/5661	2	2			c.2444C>T						16	SNP	c.(2443-2445)GCG>GTG	44	44			breast(2)|central_nervous_system(1)	3	Broad	mitogen-activated protein kinase 8 interacting			1815961		0.687	ENSG00000138834	9113	g.chr16:1815961C>T	vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding							29.499617	KEEP	8	3	-1	9	10	8	3	-1	29.499617	9	10	0.5	1	0	0	0	0	1	0	0	0	--	--		0	T			MAPK8IP3_uc002cml.2_Missense_Mutation_p.A809V|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.A816V	1	GBM-02-0003-TP	p.A815V	C	CTCTCCCCAGCGGCCAGCGAC	NM_015133	NP_055948	1815961	Q9UPT6	JIP3_HUMAN	0			21	2564	+	T	T			Missense_Mutation	815						
MAPK8IP3	0	broad.mit.edu	GRCh37	16	1816093	1816093	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1833-01	TCGA-27-1833-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000250894.4:c.2576G>A	p.Arg859Gln	p.R859Q	ENST00000250894	NM_015133.3	859	cGg/cAg	0			1			A	R/Q	uc002cmk.2	protein_coding	YES	CCDS10442.2			2576/4011									breast(2)|central_nervous_system(1)	3	c.(2575-2577)CGG>CAG			hmmpanther:PTHR13886,hmmpanther:PTHR13886:SF3	mitogen-activated protein kinase 8 interacting				ENSP00000250894		21/32	2.48E-05	0.000106				3.10E-05			rs746610938,COSM1129046,COSM3402115	21/32	.		ENST00000250894	Transcript			vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	ENSG00000138834	g.chr16:1816093G>A	6884			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=JIP3_HUMAN&rb=787&re=986&var=R859Q	NA	getma.org/?cm=var&var=hg19,16,1816093,G,A&fts=all	R859Q	--	--	1																																		MAPK8IP3_uc002cml.2_Missense_Mutation_p.R853Q|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.R860Q	0,1,1	1		benign(0.009)	p.R859Q	NM_015133	NP_055948		tolerated(0.62)	0,1,1	JIP3_HUMAN	MAPK8IP3	HGNC	Q9UPT6	JIP3_HUMAN					21	2696	+			UPI000034ECA7	859					SNV	MAPK8IP3,missense_variant,p.Arg859Gln,ENST00000250894,NM_015133.3;MAPK8IP3,missense_variant,p.Arg853Gln,ENST00000356010,NM_001040439.1;NME3,downstream_gene_variant,,ENST00000219302,NM_002513.2;NME3,downstream_gene_variant,,ENST00000563498,;NME3,downstream_gene_variant,,ENST00000564628,;NME3,downstream_gene_variant,,ENST00000561637,;NME3,downstream_gene_variant,,ENST00000566600,;NME3,downstream_gene_variant,,ENST00000565379,;NME3,downstream_gene_variant,,ENST00000563367,;MAPK8IP3,upstream_gene_variant,,ENST00000563868,;MAPK8IP3,downstream_gene_variant,,ENST00000566589,;MAPK8IP3,upstream_gene_variant,,ENST00000564868,;NME3,downstream_gene_variant,,ENST00000568561,;NME3,downstream_gene_variant,,ENST00000567271,;NME3,downstream_gene_variant,,ENST00000564252,;NME3,downstream_gene_variant,,ENST00000563854,;MAPK8IP3,upstream_gene_variant,,ENST00000566064,;MAPK8IP3,upstream_gene_variant,,ENST00000567352,;MAPK8IP3,downstream_gene_variant,,ENST00000561949,;MAPK8IP3,downstream_gene_variant,,ENST00000570131,;MAPK8IP3,upstream_gene_variant,,ENST00000562042,;	uc002cmk.2	c.2576G>A	2733/5661	2	2			c.2576G>A						16	SNP	c.(2575-2577)CGG>CAG	22	22			breast(2)|central_nervous_system(1)	3	Broad	mitogen-activated protein kinase 8 interacting			1816093		0.662	ENSG00000138834	9113	g.chr16:1816093G>A	vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding							61.856918	KEEP	11	13	-1	16	33	11	13	-1	63.405298	16	33	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	A			MAPK8IP3_uc002cml.2_Missense_Mutation_p.R853Q|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.R860Q	192	GBM-27-1833-TP	p.R859Q	G	AACGTGCCGCGGAGCAACTGC	NM_015133	NP_055948	1816093	Q9UPT6	JIP3_HUMAN	0			21	2696	+	A	A			Missense_Mutation	859						
MAPK8IP3	23162		GRCh37	16	1814345	1814345	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000250894.4:c.2162A>G	p.Asn721Ser	p.N721S	ENST00000250894	NM_015133.3	721	aAt/aGt	0																																																																																																																																																																																																																																												
MAPKBP1	23005	broad.mit.edu	GRCh37	15	42111153	42111153	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T			TCGA-06-0174-01	TCGA-06-0174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000456763.2:c.2307C>T		p.X769_splice	ENST00000456763	NM_001128608.1	769	aaC/aaT	0			1			T	N	uc001zok.3	protein_coding	YES	CCDS45239.1			2307/4545								p.N763N(1)	central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10	c.(2305-2307)AAC>AAT			hmmpanther:PTHR22847:SF326,hmmpanther:PTHR22847	mitogen-activated protein kinase binding protein				ENSP00000393099		21/32	8.24E-06			0.000116					COSM42768,COSM3401724	21/32	.		ENST00000456763	Transcript						ENSG00000137802	g.chr15:42111153C>T	29536			LOW								--	--	1																																		MAPKBP1_uc001zoj.3_Silent_p.N763N|MAPKBP1_uc010bcj.2_Silent_p.N270N|MAPKBP1_uc010bci.2_Silent_p.N763N|MAPKBP1_uc010udb.1_Silent_p.N602N|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Silent_p.N270N	1,1	1			p.N769N	NM_001128608	NP_001122080			1,1	MABP1_HUMAN	MAPKBP1	HGNC	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	D6R9F7_HUMAN		21	2593	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	UPI00002375CB	769					SNV	MAPKBP1,splice_region_variant,p.=,ENST00000457542,NM_014994.2;MAPKBP1,splice_region_variant,p.=,ENST00000456763,NM_001128608.1;MAPKBP1,splice_region_variant,p.=,ENST00000221214,;MAPKBP1,splice_region_variant,p.=,ENST00000514566,NM_001265611.1;MAPKBP1,splice_region_variant,p.=,ENST00000260357,;MAPKBP1,splice_region_variant,,ENST00000505061,;MAPKBP1,splice_region_variant,,ENST00000512970,;MAPKBP1,splice_region_variant,,ENST00000505373,;MAPKBP1,downstream_gene_variant,,ENST00000502292,;MAPKBP1,upstream_gene_variant,,ENST00000508050,;MAPKBP1,upstream_gene_variant,,ENST00000512433,;MAPKBP1,upstream_gene_variant,,ENST00000502695,;MAPKBP1,upstream_gene_variant,,ENST00000506301,;MAPKBP1,downstream_gene_variant,,ENST00000503526,;	uc001zok.3	c.2307C>T	2503/7158	1	1			c.2307C>T						15	SNP	c.(2305-2307)AAC>AAT	4	4		p.N763N(1)	central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10	Broad	mitogen-activated protein kinase binding protein			42111153		0.607	ENSG00000137802	9119	g.chr15:42111153C>T						360			360	114.764891	KEEP	20	23	-1	30	27	20	23	-1	114.934969	30	27	0.45122	1	0	0	0	0	0	0	1	0	--	--		0	T			MAPKBP1_uc001zoj.3_Silent_p.N763N|MAPKBP1_uc010bcj.2_Silent_p.N270N|MAPKBP1_uc010bci.2_Silent_p.N763N|MAPKBP1_uc010udb.1_Silent_p.N602N|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Silent_p.N270N	37	GBM-06-0174-TP	p.N769N	C	CTGGACCCAACCGGTGAGAAC	NM_001128608	NP_001122080	42111153	O60336	MABP1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	21	2593	+	T	T		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	Silent	769						
MAPKBP1	23005	broad.mit.edu	GRCh37	15	42106769	42106769	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2563-01	TCGA-06-2563-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000456763.2:c.1020G>A	p.Ala340=	p.A340=	ENST00000456763	NM_001128608.1	340	gcG/gcA	0			1			A	A	uc001zok.3	protein_coding	YES	CCDS45239.1			1020/4545									central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10	c.(1018-1020)GCG>GCA			Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR22847:SF326,hmmpanther:PTHR22847,PROSITE_profiles:PS50294	mitogen-activated protein kinase binding protein				ENSP00000393099		Nov-32	4.94E-05			0.000116		7.50E-05			rs762867127,COSM2152833,COSM3401719	Nov-32	.		ENST00000456763	Transcript						ENSG00000137802	g.chr15:42106769G>A	29536			LOW								--	--	1																																		MAPKBP1_uc001zoj.3_Silent_p.A334A|MAPKBP1_uc010bcj.2_Intron|MAPKBP1_uc010bci.2_Silent_p.A334A|MAPKBP1_uc010udb.1_Silent_p.A222A|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Intron	0,1,1	1			p.A340A	NM_001128608	NP_001122080			0,1,1	MABP1_HUMAN	MAPKBP1	HGNC	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	D6R9F7_HUMAN		11	1306	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	UPI00002375CB	340					SNV	MAPKBP1,synonymous_variant,p.=,ENST00000457542,NM_014994.2;MAPKBP1,synonymous_variant,p.=,ENST00000456763,NM_001128608.1;MAPKBP1,synonymous_variant,p.=,ENST00000514566,NM_001265611.1;MAPKBP1,synonymous_variant,p.=,ENST00000260357,;MAPKBP1,intron_variant,,ENST00000221214,;MAPKBP1,downstream_gene_variant,,ENST00000510535,;MAPKBP1,downstream_gene_variant,,ENST00000507762,;MAPKBP1,3_prime_UTR_variant,,ENST00000505373,;MAPKBP1,non_coding_transcript_exon_variant,,ENST00000505061,;MAPKBP1,non_coding_transcript_exon_variant,,ENST00000502292,;MAPKBP1,intron_variant,,ENST00000512970,;MAPKBP1,downstream_gene_variant,,ENST00000515164,;MAPKBP1,upstream_gene_variant,,ENST00000503526,;MAPKBP1,downstream_gene_variant,,ENST00000507147,;	uc001zok.3	c.1020G>A	1216/7158	2	2			c.1020G>A						15	SNP	c.(1018-1020)GCG>GCA	47	47			central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10	Broad	mitogen-activated protein kinase binding protein			42106769		0.488	ENSG00000137802	9119	g.chr15:42106769G>A						360			360	380.784344	KEEP	72	74	-1	110	99	72	74	-1	383.047915	110	99	0.407285	1	0	0	0	0	0	0	1	0	--	--		0	A			MAPKBP1_uc001zoj.3_Silent_p.A334A|MAPKBP1_uc010bcj.2_Intron|MAPKBP1_uc010bci.2_Silent_p.A334A|MAPKBP1_uc010udb.1_Silent_p.A222A|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Intron	86	GBM-06-2563-TP	p.A340A	G	CTGGAGTGGCGAATGCCAGGT	NM_001128608	NP_001122080	42106769	O60336	MABP1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	11	1306	+	A	A		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	Silent	340						
MAPKBP1	23005	broad.mit.edu	GRCh37	15	42111074	42111074	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01	TCGA-06-2563-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000456763.2:c.2228G>A	p.Arg743His	p.R743H	ENST00000456763	NM_001128608.1	743	cGt/cAt	0			1			A	R/H	uc001zok.3	protein_coding	YES	CCDS45239.1			2228/4545									central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10	c.(2227-2229)CGT>CAT			Low_complexity_(Seg):seg,hmmpanther:PTHR22847:SF326,hmmpanther:PTHR22847	mitogen-activated protein kinase binding protein				ENSP00000393099		21/32	8.24E-06					1.50E-05			rs534654016,COSM268136,COSM3401723	21/32	.		ENST00000456763	Transcript						ENSG00000137802	g.chr15:42111074G>A	29536			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=MABP1_HUMAN&rb=732&re=931&var=R743H	NA	getma.org/?cm=var&var=hg19,15,42111074,G,A&fts=all	R743H	--	--	1																																		MAPKBP1_uc001zoj.3_Missense_Mutation_p.R737H|MAPKBP1_uc010bcj.2_Missense_Mutation_p.R244H|MAPKBP1_uc010bci.2_Missense_Mutation_p.R737H|MAPKBP1_uc010udb.1_Missense_Mutation_p.R576H|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Missense_Mutation_p.R244H	0,1,1	1		probably_damaging(0.999)	p.R743H	NM_001128608	NP_001122080		deleterious(0.04)	0,1,1	MABP1_HUMAN	MAPKBP1	HGNC	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	D6R9F7_HUMAN		21	2514	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	UPI00002375CB	743					SNV	MAPKBP1,missense_variant,p.Arg737His,ENST00000457542,NM_014994.2;MAPKBP1,missense_variant,p.Arg743His,ENST00000456763,NM_001128608.1;MAPKBP1,missense_variant,p.Arg620His,ENST00000221214,;MAPKBP1,missense_variant,p.Arg737His,ENST00000514566,NM_001265611.1;MAPKBP1,missense_variant,p.Arg576His,ENST00000260357,;MAPKBP1,3_prime_UTR_variant,,ENST00000512970,;MAPKBP1,3_prime_UTR_variant,,ENST00000505373,;MAPKBP1,non_coding_transcript_exon_variant,,ENST00000505061,;MAPKBP1,downstream_gene_variant,,ENST00000502292,;MAPKBP1,upstream_gene_variant,,ENST00000508050,;MAPKBP1,upstream_gene_variant,,ENST00000512433,;MAPKBP1,upstream_gene_variant,,ENST00000502695,;MAPKBP1,upstream_gene_variant,,ENST00000506301,;MAPKBP1,downstream_gene_variant,,ENST00000503526,;	uc001zok.3	c.2228G>A	2424/7158	2	2			c.2228G>A						15	SNP	c.(2227-2229)CGT>CAT	32	32			central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10	Broad	mitogen-activated protein kinase binding protein			42111074		0.602	ENSG00000137802	9119	g.chr15:42111074G>A						360			360	53.115005	KEEP	7	14	-1	11	23	7	14	-1	53.655261	11	23	0.387755	1	0	0	0	0	1	0	0	0	--	--		0	A			MAPKBP1_uc001zoj.3_Missense_Mutation_p.R737H|MAPKBP1_uc010bcj.2_Missense_Mutation_p.R244H|MAPKBP1_uc010bci.2_Missense_Mutation_p.R737H|MAPKBP1_uc010udb.1_Missense_Mutation_p.R576H|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Missense_Mutation_p.R244H	86	GBM-06-2563-TP	p.R743H	G	ATGAGGCAGCGTCTGGCCGAG	NM_001128608	NP_001122080	42111074	O60336	MABP1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	21	2514	+	A	A		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	Missense_Mutation	743						
MAPKBP1	23005	broad.mit.edu	GRCh37	15	42107465	42107465	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5856-01	TCGA-06-5856-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000456763.2:c.1197C>T	p.Pro399=	p.P399=	ENST00000456763	NM_001128608.1	399	ccC/ccT	0			1			T	P	uc001zok.3	protein_coding	YES	CCDS45239.1			1197/4545									central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10	c.(1195-1197)CCC>CCT			Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,Pfam_domain:PF00400,hmmpanther:PTHR22847:SF326,hmmpanther:PTHR22847,PROSITE_profiles:PS50294	mitogen-activated protein kinase binding protein				ENSP00000393099		Dec-32									COSM961548,COSM3401720	Dec-32	.		ENST00000456763	Transcript						ENSG00000137802	g.chr15:42107465C>T	29536			LOW								--	--	1																																		MAPKBP1_uc001zoj.3_Silent_p.P393P|MAPKBP1_uc010bcj.2_5'UTR|MAPKBP1_uc010bci.2_Silent_p.P393P|MAPKBP1_uc010udb.1_Intron|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_5'UTR	1,1	1			p.P399P	NM_001128608	NP_001122080			1,1	MABP1_HUMAN	MAPKBP1	HGNC	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	D6R9F7_HUMAN		12	1483	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	UPI00002375CB	399			WD 6.		SNV	MAPKBP1,synonymous_variant,p.=,ENST00000457542,NM_014994.2;MAPKBP1,synonymous_variant,p.=,ENST00000456763,NM_001128608.1;MAPKBP1,synonymous_variant,p.=,ENST00000221214,;MAPKBP1,synonymous_variant,p.=,ENST00000514566,NM_001265611.1;MAPKBP1,intron_variant,,ENST00000260357,;MAPKBP1,downstream_gene_variant,,ENST00000510535,;MAPKBP1,downstream_gene_variant,,ENST00000507762,;MAPKBP1,missense_variant,p.Pro330Leu,ENST00000512970,;MAPKBP1,non_coding_transcript_exon_variant,,ENST00000505061,;MAPKBP1,non_coding_transcript_exon_variant,,ENST00000502292,;MAPKBP1,intron_variant,,ENST00000505373,;MAPKBP1,downstream_gene_variant,,ENST00000515164,;MAPKBP1,upstream_gene_variant,,ENST00000503526,;MAPKBP1,downstream_gene_variant,,ENST00000507147,;	uc001zok.3	c.1197C>T	1393/7158	2	2			c.1197C>T						15	SNP	c.(1195-1197)CCC>CCT	48	48			central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10	Broad	mitogen-activated protein kinase binding protein			42107465		0.572	ENSG00000137802	9119	g.chr15:42107465C>T						360			360	89.412002	KEEP	17	11	-1	14	21	17	11	-1	89.443603	14	21	0.474576	1	0	0	0	0	0	0	1	0	--	--		0	T			MAPKBP1_uc001zoj.3_Silent_p.P393P|MAPKBP1_uc010bcj.2_5'UTR|MAPKBP1_uc010bci.2_Silent_p.P393P|MAPKBP1_uc010udb.1_Intron|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_5'UTR	101	GBM-06-5856-TP	p.P399P	C	AGGTCTACCCCGAGGTGAAGG	NM_001128608	NP_001122080	42107465	O60336	MABP1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	12	1483	+	T	T		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	Silent	399			WD 6.			
MAPKBP1	0	broad.mit.edu	GRCh37	15	42109162	42109162	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01	TCGA-16-0861-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000456763.2:c.1658C>T	p.Ala553Val	p.A553V	ENST00000456763	NM_001128608.1	553	gCc/gTc	0			1			T	A/V	uc001zok.3	protein_coding	YES	CCDS45239.1			1658/4545									central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10	c.(1657-1659)GCC>GTC			Superfamily_domains:SSF50978,Gene3D:2.130.10.10,hmmpanther:PTHR22847:SF326,hmmpanther:PTHR22847,PROSITE_profiles:PS50294	mitogen-activated protein kinase binding protein				ENSP00000393099		15/32									COSM3401722,COSM3401721	15/32	.		ENST00000456763	Transcript						ENSG00000137802	g.chr15:42109162C>T	29536			MODERATE		-0.34	neutral	getma.org/?cm=msa&ty=f&p=MABP1_HUMAN&rb=523&re=586&var=A553V	NA	getma.org/?cm=var&var=hg19,15,42109162,C,T&fts=all	A553V	--	--	1																																		MAPKBP1_uc001zoj.3_Missense_Mutation_p.A547V|MAPKBP1_uc010bcj.2_Missense_Mutation_p.A54V|MAPKBP1_uc010bci.2_Missense_Mutation_p.A547V|MAPKBP1_uc010udb.1_Missense_Mutation_p.A386V|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Missense_Mutation_p.A54V	1,1	1		benign(0.034)	p.A553V	NM_001128608	NP_001122080		tolerated(0.11)	1,1	MABP1_HUMAN	MAPKBP1	HGNC	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	D6R9F7_HUMAN		15	1944	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	UPI00002375CB	553			WD 8.		SNV	MAPKBP1,missense_variant,p.Ala547Val,ENST00000457542,NM_014994.2;MAPKBP1,missense_variant,p.Ala553Val,ENST00000456763,NM_001128608.1;MAPKBP1,missense_variant,p.Ala430Val,ENST00000221214,;MAPKBP1,missense_variant,p.Ala547Val,ENST00000514566,NM_001265611.1;MAPKBP1,missense_variant,p.Ala386Val,ENST00000260357,;MAPKBP1,downstream_gene_variant,,ENST00000510535,;MAPKBP1,3_prime_UTR_variant,,ENST00000512970,;MAPKBP1,3_prime_UTR_variant,,ENST00000505373,;MAPKBP1,non_coding_transcript_exon_variant,,ENST00000505061,;MAPKBP1,non_coding_transcript_exon_variant,,ENST00000503526,;MAPKBP1,downstream_gene_variant,,ENST00000502292,;MAPKBP1,downstream_gene_variant,,ENST00000515164,;MAPKBP1,upstream_gene_variant,,ENST00000508050,;	uc001zok.3	c.1658C>T	1854/7158	1	1			c.1658C>T						15	SNP	c.(1657-1659)GCC>GTC	16	16			central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10	Broad	mitogen-activated protein kinase binding protein			42109162		0.582	ENSG00000137802	9119	g.chr15:42109162C>T						360			360	-26.623236	KEEP	1	4	-1	83	108	1	4	-1	9.262395	83	108	0.033113	1	0	0	0	0	1	0	0	0	--	--		0	T			MAPKBP1_uc001zoj.3_Missense_Mutation_p.A547V|MAPKBP1_uc010bcj.2_Missense_Mutation_p.A54V|MAPKBP1_uc010bci.2_Missense_Mutation_p.A547V|MAPKBP1_uc010udb.1_Missense_Mutation_p.A386V|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Missense_Mutation_p.A54V	156	GBM-16-0861-TP	p.A553V	C	GTGCTGGATGCCGGGCGGGAG	NM_001128608	NP_001122080	42109162	O60336	MABP1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	15	1944	+	T	T		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	Missense_Mutation	553			WD 8.			
MAPKBP1	0	broad.mit.edu	GRCh37	15	42067489	42067489	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-28-2509-01	TCGA-28-2509-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000456763.2:c.16T>G	p.Ser6Ala	p.S6A	ENST00000456763	NM_001128608.1	6	Tca/Gca	0			1			G	S/A	uc001zok.3	protein_coding	YES	CCDS45239.1			16/4545									central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10	c.(16-18)TCA>GCA			hmmpanther:PTHR22847:SF326,hmmpanther:PTHR22847	mitogen-activated protein kinase binding protein				ENSP00000393099		Feb-32	0.00116	0.00168	8.69E-05	0.000813	0.00418	0.00105	0.00342	6.07E-05	rs746844515,COSM3747975,COSM3747974	Feb-32	common_variant		ENST00000456763	Transcript						ENSG00000137802	g.chr15:42067489T>G	29536			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=MABP1_HUMAN&rb=1&re=79&var=S6A	NA	getma.org/?cm=var&var=hg19,15,42067489,T,G&fts=all	S6A	--	--	1																																		MAPKBP1_uc001zoj.3_Missense_Mutation_p.S6A|MAPKBP1_uc010bcj.2_5'UTR|MAPKBP1_uc010bci.2_Missense_Mutation_p.S6A|MAPKBP1_uc010udb.1_5'UTR|MAPKBP1_uc010bck.2_5'UTR	0,1,1	1		benign(0.01)	p.S6A	NM_001128608	NP_001122080		tolerated(0.3)	0,1,1	MABP1_HUMAN	MAPKBP1	HGNC	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	D6R9F7_HUMAN		2	302	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	UPI00002375CB	6					SNV	MAPKBP1,missense_variant,p.Ser6Ala,ENST00000457542,NM_014994.2;MAPKBP1,missense_variant,p.Ser6Ala,ENST00000456763,NM_001128608.1;MAPKBP1,missense_variant,p.Ser6Ala,ENST00000221214,;MAPKBP1,missense_variant,p.Ser6Ala,ENST00000514566,NM_001265611.1;MAPKBP1,missense_variant,p.Ser6Ala,ENST00000510535,;MAPKBP1,5_prime_UTR_variant,,ENST00000260357,;RP11-107F6.3,upstream_gene_variant,,ENST00000562063,;RP11-107F6.3,upstream_gene_variant,,ENST00000607504,;MAPKBP1,upstream_gene_variant,,ENST00000507762,;MAPKBP1,missense_variant,p.Ser6Ala,ENST00000512970,;MAPKBP1,missense_variant,p.Ser6Ala,ENST00000505373,;MAPKBP1,non_coding_transcript_exon_variant,,ENST00000502292,;MAPKBP1,upstream_gene_variant,,ENST00000505061,;	uc001zok.3	c.16T>G	212/7158	4	4			c.16T>G						15	SNP	c.(16-18)TCA>GCA	32	32			central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10	Broad	mitogen-activated protein kinase binding protein			42067489		0.557	ENSG00000137802	9119	g.chr15:42067489T>G						360			360	5.39819	KEEP	15	19	-1	14	25	15	19	-1	7.679724	14	25	0.27907	1	0	0	0	0	1	0	0	0	--	--		0	G			MAPKBP1_uc001zoj.3_Missense_Mutation_p.S6A|MAPKBP1_uc010bcj.2_5'UTR|MAPKBP1_uc010bci.2_Missense_Mutation_p.S6A|MAPKBP1_uc010udb.1_5'UTR|MAPKBP1_uc010bck.2_5'UTR	211	GBM-28-2509-TP	p.S6A	T	TGTGGAAGGGTCAACCATTAC	NM_001128608	NP_001122080	42067489	O60336	MABP1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	2	302	+	G	G		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	Missense_Mutation	6						
MAPT	4137		GRCh37	17	44067273	44067273	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000344290.5:c.1212G>A	p.Leu404=	p.L404=	ENST00000344290	NM_001123066.3	404	ttG/ttA	0																																																																																																																																																																																																																																												
MARCO	0	broad.mit.edu	GRCh37	2	119726837	119726837	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T			TCGA-14-3476-01	TCGA-14-3476-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327097.4:c.199G>T	p.Val67Phe	p.V67F	ENST00000327097	NM_006770.3	67	Gtt/Ttt	0			1			T	V/F	uc002tln.1	protein_coding	YES	CCDS2124.1			199/1563									ovary(3)|skin(2)|central_nervous_system(1)	6	c.(199-201)GTT>TTT			Transmembrane_helices:TMhelix,hmmpanther:PTHR24021:SF16,hmmpanther:PTHR24021	macrophage receptor with collagenous structure				ENSP00000318916		17-Feb									COSM3406822	17-Feb	.		ENST00000327097	Transcript			cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	ENSG00000019169	g.chr2:119726837G>T	6895			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=MARCO_HUMAN&rb=1&re=139&var=V67F	NA	getma.org/?cm=var&var=hg19,2,119726837,G,T&fts=all	V67F	--	--	1																																		MARCO_uc010yyf.1_5'UTR	1	1		probably_damaging(0.954)	p.V67F	NM_006770	NP_006761		deleterious(0)	1	MARCO_HUMAN	MARCO	HGNC	Q9UEW3	MARCO_HUMAN			Q4ZG40_HUMAN,C9JKT8_HUMAN,B4DW79_HUMAN,B4DLJ6_HUMAN		2	331	+			UPI0000000DF8	67			Extracellular (Potential).		SNV	MARCO,missense_variant,p.Val67Phe,ENST00000327097,NM_006770.3;MARCO,splice_region_variant,,ENST00000541757,;MARCO,splice_region_variant,,ENST00000412481,;	uc002tln.1	c.199G>T	334/1838	2	2			c.199G>T						2	SNP	c.(199-201)GTT>TTT	20	20			ovary(3)|skin(2)|central_nervous_system(1)	6	Broad	macrophage receptor with collagenous structure			119726837		0.612	ENSG00000019169	9138	g.chr2:119726837G>T	cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	GBM(8;18 374 7467 11269 32796)			GBM(8;18 374 7467 11269 32796)			105.030577	KEEP	15	26	0.365853659	35	47	15	26	0.365853659	108.017886	35	47	0.327434	1	0	0	0	0	1	0	0	0	--	--		0	T			MARCO_uc010yyf.1_5'UTR	151	GBM-14-3476-TP	p.V67F	G	GGTGGTCCAAGGTAAAGCAGG	NM_006770	NP_006761	119726837	Q9UEW3	MARCO_HUMAN	0			2	331	+	T	T			Missense_Mutation	67			Extracellular (Potential).			
MARCO	0	broad.mit.edu	GRCh37	2	119752091	119752091	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01	TCGA-28-1753-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327097.4:c.1558G>A	p.Val520Ile	p.V520I	ENST00000327097	NM_006770.3	520	Gtc/Atc	0	A:0	A:0	1	A:0		A	V/I	uc002tln.1	protein_coding	YES	CCDS2124.1			1558/1563									ovary(3)|skin(2)|central_nervous_system(1)	6	c.(1558-1560)GTC>ATC			hmmpanther:PTHR24021:SF16,hmmpanther:PTHR24021	macrophage receptor with collagenous structure		A:0.001	A:0.0001	ENSP00000318916	A:0.001	17/17	4.94E-05			0.000348		4.62E-05			rs200590124,COSM271379	17/17	.		ENST00000327097	Transcript		A:0.0004	cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	ENSG00000019169	g.chr2:119752091G>A	6895			MODERATE		2.01	medium	getma.org/?cm=msa&ty=f&p=MARCO_HUMAN&rb=490&re=520&var=V520I	getma.org/pdb.php?prot=MARCO_HUMAN&from=520&to=520&var=V520I	getma.org/?cm=var&var=hg19,2,119752091,G,A&fts=all	V520I	--	--	1																																		MARCO_uc010yyf.1_Missense_Mutation_p.V442I	0,1	1		unknown(0)	p.V520I	NM_006770	NP_006761	A:0	tolerated_low_confidence(0.84)	0,1	MARCO_HUMAN	MARCO	HGNC	Q9UEW3	MARCO_HUMAN			Q4ZG40_HUMAN,C9JKT8_HUMAN,B4DW79_HUMAN,B4DLJ6_HUMAN		17	1690	+			UPI0000000DF8	520			Extracellular (Potential).		SNV	MARCO,missense_variant,p.Val442Ile,ENST00000541757,;MARCO,missense_variant,p.Val520Ile,ENST00000327097,NM_006770.3;MARCO,non_coding_transcript_exon_variant,,ENST00000494979,;	uc002tln.1	c.1558G>A	1693/1838	1	1			c.1558G>A						2	SNP	c.(1558-1560)GTC>ATC	49	49			ovary(3)|skin(2)|central_nervous_system(1)	6	Broad	macrophage receptor with collagenous structure			119752091		0.602	ENSG00000019169	9138	g.chr2:119752091G>A	cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	GBM(8;18 374 7467 11269 32796)			GBM(8;18 374 7467 11269 32796)			58.78682	KEEP	15	14	-1	52	38	15	14	-1	63.834903	52	38	0.252747	1	0	0	0	0	1	0	0	0	--	--		0	A			MARCO_uc010yyf.1_Missense_Mutation_p.V442I	207	GBM-28-1753-TP	p.V520I	G	GGAGTGCAGCGTCTGACCCGG	NM_006770	NP_006761	119752091	Q9UEW3	MARCO_HUMAN	0			17	1690	+	A	A			Missense_Mutation	520			Extracellular (Potential).			
MARCO	0	broad.mit.edu	GRCh37	2	119732140	119732140	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A			TCGA-32-1986-01	TCGA-32-1986-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327097.4:c.612G>A	p.Ala204=	p.A204=	ENST00000327097	NM_006770.3	204	gcG/gcA	0	A:0.0005		1			A	A	uc002tln.1	protein_coding	YES	CCDS2124.1			612/1563									ovary(3)|skin(2)|central_nervous_system(1)	6	c.(610-612)GCG>GCA			Low_complexity_(Seg):seg,hmmpanther:PTHR24021:SF16,hmmpanther:PTHR24021,Pfam_domain:PF01391,Pfam_domain:PF01391	macrophage receptor with collagenous structure			A:0	ENSP00000318916		17-Jun	1.65E-05	0.000216							rs374483780,COSM1161313	17-Jun	.		ENST00000327097	Transcript			cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	ENSG00000019169	g.chr2:119732140G>A	6895			LOW								--	--	1																																		MARCO_uc010yyf.1_Silent_p.A126A	0,1	1			p.A204A	NM_006770	NP_006761			0,1	MARCO_HUMAN	MARCO	HGNC	Q9UEW3	MARCO_HUMAN			Q4ZG40_HUMAN,C9JKT8_HUMAN,B4DW79_HUMAN,B4DLJ6_HUMAN		6	744	+			UPI0000000DF8	204			Collagen-like.|Extracellular (Potential).		SNV	MARCO,splice_region_variant,p.=,ENST00000541757,;MARCO,splice_region_variant,p.=,ENST00000327097,NM_006770.3;MARCO,downstream_gene_variant,,ENST00000412481,;	uc002tln.1	c.612G>A	747/1838	1	1			c.612G>A						2	SNP	c.(610-612)GCG>GCA	51	51			ovary(3)|skin(2)|central_nervous_system(1)	6	Broad	macrophage receptor with collagenous structure			119732140		0.572	ENSG00000019169	9138	g.chr2:119732140G>A	cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	GBM(8;18 374 7467 11269 32796)			GBM(8;18 374 7467 11269 32796)			43.705378	KEEP	9	8	-1	16	28	9	8	-1	45.492262	16	28	0.3	1	0	0	0	0	0	0	1	0	--	--		0	A			MARCO_uc010yyf.1_Silent_p.A126A	233	GBM-32-1986-TP	p.A204A	G	AGGGAGAGGCGGGTGAGTAGG	NM_006770	NP_006761	119732140	Q9UEW3	MARCO_HUMAN	0			6	744	+	A	A			Silent	204			Collagen-like.|Extracellular (Potential).			
MARK3	0	broad.mit.edu	GRCh37	14	103933475	103933475	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-32-2495-01	TCGA-32-2495-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000429436.2:c.1057A>C	p.Lys353Gln	p.K353Q	ENST00000429436	NM_001128918.1	353	Aaa/Caa	0			1			C	K/Q	uc001ymz.3	protein_coding	YES	CCDS45165.1			1057/2262									central_nervous_system(2)|ovary(1)|stomach(1)	4	c.(1057-1059)AAA>CAA			SMART_domains:SM00165,Gene3D:1.10.8.10,hmmpanther:PTHR24346,hmmpanther:PTHR24346:SF1,PROSITE_profiles:PS50030	MAP/microtubule affinity-regulating kinase 3				ENSP00000411397		18-Nov									COSM3401127,COSM3401126,COSM3401125	18-Nov	.		ENST00000429436	Transcript					ATP binding|protein binding|protein serine/threonine kinase activity	ENSG00000075413	g.chr14:103933475A>C	6897			MODERATE		2.435	medium	getma.org/?cm=msa&ty=f&p=MARK3_HUMAN&rb=326&re=365&var=K353Q	getma.org/pdb.php?prot=MARK3_HUMAN&from=326&to=365&var=K353Q	getma.org/?cm=var&var=hg19,14,103933475,A,C&fts=all	K353Q	--	--	1																																		MARK3_uc001ymx.3_Missense_Mutation_p.K353Q|MARK3_uc001ymw.3_Missense_Mutation_p.K353Q|MARK3_uc001yna.3_Missense_Mutation_p.K353Q|MARK3_uc001ymy.3_Missense_Mutation_p.K274Q|MARK3_uc010awp.2_Missense_Mutation_p.K376Q|MARK3_uc010tyb.1_Missense_Mutation_p.K164Q	1,1,1	1		possibly_damaging(0.467)	p.K353Q	NM_001128918	NP_001122390		deleterious(0.01)	1,1,1	MARK3_HUMAN	MARK3	HGNC	P27448	MARK3_HUMAN	Epithelial(46;0.241)		Q86U11_HUMAN		11	1723	+		Melanoma(154;0.155)	UPI00004567CC	353			UBA.		SNV	MARK3,missense_variant,p.Lys353Gln,ENST00000429436,NM_001128918.1,NM_001128919.1;MARK3,missense_variant,p.Lys353Gln,ENST00000303622,NM_001128920.1,NM_002376.5;MARK3,missense_variant,p.Lys376Gln,ENST00000416682,;MARK3,missense_variant,p.Lys353Gln,ENST00000216288,;MARK3,missense_variant,p.Lys274Gln,ENST00000440884,NM_001128921.1;MARK3,missense_variant,p.Lys376Gln,ENST00000335102,;MARK3,missense_variant,p.Lys353Gln,ENST00000553942,;MARK3,missense_variant,p.Lys121Gln,ENST00000554627,;MARK3,downstream_gene_variant,,ENST00000560417,;MARK3,non_coding_transcript_exon_variant,,ENST00000558953,;MARK3,intron_variant,,ENST00000561071,;MARK3,downstream_gene_variant,,ENST00000561164,;MARK3,downstream_gene_variant,,ENST00000559268,;MARK3,downstream_gene_variant,,ENST00000558698,;MARK3,non_coding_transcript_exon_variant,,ENST00000558611,;MARK3,upstream_gene_variant,,ENST00000559274,;MARK3,downstream_gene_variant,,ENST00000558223,;	uc001ymz.3	c.1057A>C	1567/3371	4	4			c.1057A>C						14	SNP	c.(1057-1059)AAA>CAA	42	42			central_nervous_system(2)|ovary(1)|stomach(1)	4	Broad	MAP/microtubule affinity-regulating kinase 3			103933475		0.328	ENSG00000075413	9141	g.chr14:103933475A>C			ATP binding|protein binding|protein serine/threonine kinase activity			260			260	430.252208	KEEP	59	79	-1	52	95	59	79	-1	430.31067	52	95	0.483051	1	0	0	0	0	1	0	0	0	--	--		0	C			MARK3_uc001ymx.3_Missense_Mutation_p.K353Q|MARK3_uc001ymw.3_Missense_Mutation_p.K353Q|MARK3_uc001yna.3_Missense_Mutation_p.K353Q|MARK3_uc001ymy.3_Missense_Mutation_p.K274Q|MARK3_uc010awp.2_Missense_Mutation_p.K376Q|MARK3_uc010tyb.1_Missense_Mutation_p.K164Q	237	GBM-32-2495-TP	p.K353Q	A	TAGTAAGATGAAATACGATGA	NM_001128918	NP_001122390	103933475	P27448	MARK3_HUMAN	0	Epithelial(46;0.241)		11	1723	+	C	C		Melanoma(154;0.155)	Missense_Mutation	353			UBA.			
MARK4	57787	broad.mit.edu	GRCh37	19	45781188	45781188	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262891.4:c.794G>A	p.Arg265Gln	p.R265Q	ENST00000262891	NM_001199867.1	265	cGg/cAg	0			1			A	R/Q	uc002pbb.1	protein_coding	YES	CCDS56097.1			794/2259									central_nervous_system(2)|large_intestine(1)	3	c.(793-795)CGG>CAG			Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24346,hmmpanther:PTHR24346:SF22,SMART_domains:SM00220,Superfamily_domains:SSF56112	RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;				ENSP00000262891		17-Sep									COSM2149375,COSM2149374	17-Sep	.		ENST00000262891	Transcript			microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	ENSG00000007047	g.chr19:45781188G>A	13538			MODERATE		0.67	neutral	getma.org/?cm=msa&ty=f&p=MARK4_HUMAN&rb=59&re=310&var=R265Q	getma.org/pdb.php?prot=MARK4_HUMAN&from=59&to=310&var=R265Q	getma.org/?cm=var&var=hg19,19,45781188,G,A&fts=all	R265Q	--	--	1																																		MARK4_uc002paz.1_Intron|MARK4_uc002pba.1_Missense_Mutation_p.R265Q|MARK4_uc002pbc.1_Missense_Mutation_p.R131Q	1,1	1		probably_damaging(0.994)	p.R265Q				deleterious(0.01)	1,1	MARK4_HUMAN	MARK4	HGNC	Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	Q96GZ3_HUMAN,K7EKG8_HUMAN,K7EK17_HUMAN		9	799	+		all_neural(266;0.224)|Ovarian(192;0.231)	UPI0000044D47	265			Protein kinase.		SNV	MARK4,missense_variant,p.Arg265Gln,ENST00000300843,NM_031417.3;MARK4,missense_variant,p.Arg265Gln,ENST00000262891,NM_001199867.1;MARK4,non_coding_transcript_exon_variant,,ENST00000588621,;MARK4,intron_variant,,ENST00000592207,;MARK4,intron_variant,,ENST00000592762,;MARK4,upstream_gene_variant,,ENST00000590897,;	uc002pbb.1	c.794G>A	1125/3573	2	2			c.794G>A						19	SNP	c.(793-795)CGG>CAG	24	24			central_nervous_system(2)|large_intestine(1)	3	Broad	RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;			45781188		0.468	ENSG00000007047	9142	g.chr19:45781188G>A	microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding		p.R265Q(22RV1-Tumor)	167		p.R265Q(22RV1-Tumor)	167	138.351874	KEEP	25	29	-1	66	59	25	29	-1	144.31907	66	59	0.299401	1	0	0	0	0	1	0	0	0	--	--		0	A			MARK4_uc002paz.1_Intron|MARK4_uc002pba.1_Missense_Mutation_p.R265Q|MARK4_uc002pbc.1_Missense_Mutation_p.R131Q	12	GBM-06-0125-TP	p.R265Q	G	CAGGAGCTGCGGGAGCGAGTA			45781188	Q96L34	MARK4_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	9	799	+	A	A		all_neural(266;0.224)|Ovarian(192;0.231)	Missense_Mutation	265			Protein kinase.			
MARK4	57787	broad.mit.edu	GRCh37	19	45774954	45774954	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0219-01	TCGA-06-0219-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262891.4:c.774G>A	p.Gly258=	p.G258=	ENST00000262891	NM_001199867.1	258	ggG/ggA	0			1			A	G	uc002pbb.1	protein_coding	YES	CCDS56097.1			774/2259									central_nervous_system(2)|large_intestine(1)	3	c.(772-774)GGG>GGA			Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24346,hmmpanther:PTHR24346:SF22,SMART_domains:SM00220,Superfamily_domains:SSF56112	RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;				ENSP00000262891		17-Aug									COSM3404380,COSM3404379	17-Aug	.		ENST00000262891	Transcript			microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	ENSG00000007047	g.chr19:45774954G>A	13538			LOW								--	--	1																																		MARK4_uc002paz.1_Missense_Mutation_p.G69D|MARK4_uc002pba.1_Silent_p.G258G|MARK4_uc002pbc.1_Silent_p.G124G	1,1	1			p.G258G					1,1	MARK4_HUMAN	MARK4	HGNC	Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	Q96GZ3_HUMAN,K7EKG8_HUMAN,K7EK17_HUMAN		8	779	+		all_neural(266;0.224)|Ovarian(192;0.231)	UPI0000044D47	258			Protein kinase.		SNV	MARK4,synonymous_variant,p.=,ENST00000300843,NM_031417.3;MARK4,synonymous_variant,p.=,ENST00000262891,NM_001199867.1;MARK4,synonymous_variant,p.=,ENST00000592762,;MARK4,non_coding_transcript_exon_variant,,ENST00000588621,;MARK4,intron_variant,,ENST00000592207,;MARK4,downstream_gene_variant,,ENST00000588533,;	uc002pbb.1	c.774G>A	1105/3573	2	2			c.774G>A						19	SNP	c.(772-774)GGG>GGA	40	40			central_nervous_system(2)|large_intestine(1)	3	Broad	RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;			45774954		0.657	ENSG00000007047	9142	g.chr19:45774954G>A	microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			167			167	-17.67897	KEEP	1	3	-1	61	64	1	3	-1	7.105432	61	64	0.037383	1	0	0	0	0	0	0	1	0	--	--		0	A			MARK4_uc002paz.1_Missense_Mutation_p.G69D|MARK4_uc002pba.1_Silent_p.G258G|MARK4_uc002pbc.1_Silent_p.G124G	52	GBM-06-0219-TP	p.G258G	G	CCTTCGACGGGCACAACCTCA			45774954	Q96L34	MARK4_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	8	779	+	A	A		all_neural(266;0.224)|Ovarian(192;0.231)	Silent	258			Protein kinase.			
MARS	4141	broad.mit.edu	GRCh37	12	57910320	57910320	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0238-01	TCGA-06-0238-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262027.5:c.2659G>A	p.Glu887Lys	p.E887K	ENST00000262027	NM_004990.3	887	Gag/Aag	0			1			A	E/K	uc001sog.2	protein_coding	YES	CCDS8942.1			2659/2703									ovary(3)|central_nervous_system(1)|pancreas(1)	5	c.(2659-2661)GAG>AAG			Low_complexity_(Seg):seg,Superfamily_domains:SSF47060,SMART_domains:SM00991,Gene3D:1.10.287.10,Pfam_domain:PF00458,hmmpanther:PTHR11946,hmmpanther:PTHR11946:SF69,PROSITE_profiles:PS51185	methionyl-tRNA synthetase	L-Methionine(DB00134)			ENSP00000262027		21/21									COSM3398930	21/21	.		ENST00000262027	Transcript	1		methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	ENSG00000166986	g.chr12:57910320G>A	6898			MODERATE		1.915	medium	getma.org/?cm=msa&ty=f&p=SYMC_HUMAN&rb=845&re=900&var=E887K	getma.org/pdb.php?prot=SYMC_HUMAN&from=845&to=900&var=E887K	getma.org/?cm=var&var=hg19,12,57910320,G,A&fts=all	E887K	--	--	1																																		MARS_uc001sof.1_RNA|MARS_uc001soh.1_3'UTR	1	1		unknown(0)	p.E887K	NM_004990	NP_004981		tolerated(0.31)	1	SYMC_HUMAN	MARS	HGNC	P56192	SYMC_HUMAN	GBM - Glioblastoma multiforme(3;4.27e-41)				21	2682	+			UPI0000136597	887			WHEP-TRS.		SNV	MARS,missense_variant,p.Glu887Lys,ENST00000262027,NM_004990.3;MARS,missense_variant,p.Glu206Lys,ENST00000552914,;MARS,stop_retained_variant,p.=,ENST00000548944,;MARS,3_prime_UTR_variant,,ENST00000547665,;MARS,downstream_gene_variant,,ENST00000315473,;DDIT3,downstream_gene_variant,,ENST00000551116,NM_001195054.1,NM_001195056.1,NM_001195055.1,NM_001195053.1;DDIT3,downstream_gene_variant,,ENST00000552740,;DDIT3,downstream_gene_variant,,ENST00000346473,NM_004083.5,NM_001195057.1;DDIT3,downstream_gene_variant,,ENST00000547303,;DDIT3,downstream_gene_variant,,ENST00000547526,;MBD6,upstream_gene_variant,,ENST00000548887,;MBD6,upstream_gene_variant,,ENST00000551351,;MIR616,downstream_gene_variant,,ENST00000385293,;RN7SL312P,downstream_gene_variant,,ENST00000582079,;MARS,downstream_gene_variant,,ENST00000447721,;MBD6,upstream_gene_variant,,ENST00000549231,;MARS,3_prime_UTR_variant,,ENST00000537638,;MARS,3_prime_UTR_variant,,ENST00000545888,;MARS,3_prime_UTR_variant,,ENST00000551172,;MARS,3_prime_UTR_variant,,ENST00000552499,;MARS,downstream_gene_variant,,ENST00000548202,;MARS,downstream_gene_variant,,ENST00000549048,;MARS,downstream_gene_variant,,ENST00000546971,;MARS,downstream_gene_variant,,ENST00000548630,;MARS,downstream_gene_variant,,ENST00000551805,;MARS,downstream_gene_variant,,ENST00000549603,;	uc001sog.2	c.2659G>A	2793/2905	2	2			c.2659G>A						12	SNP	c.(2659-2661)GAG>AAG	36	36			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Broad	methionyl-tRNA synthetase		L-Methionine(DB00134)	57910320		0.433	ENSG00000166986	9143	g.chr12:57910320G>A	methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			9			9	0.816859	KEEP	30	41	-1	312	319	30	41	-1	109.18294	312	319	0.083197	1	0	0	0	0	1	0	0	0	--	--		0	A			MARS_uc001sof.1_RNA|MARS_uc001soh.1_3'UTR	55	GBM-06-0238-TP	p.E887K	G	GGCTGTAGCTGAGGGGAAACC	NM_004990	NP_004981	57910320	P56192	SYMC_HUMAN	0	GBM - Glioblastoma multiforme(3;4.27e-41)		21	2682	+	A	A			Missense_Mutation	887			WHEP-TRS.			
MARS	0	broad.mit.edu	GRCh37	12	57883052	57883053	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	rs11540808		TCGA-28-5207-01	TCGA-28-5207-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262027.5:c.212dupT	p.Leu71PhefsTer9	p.L71Ffs*9	ENST00000262027	NM_004990.3	68	tat/taTt	0			1			T	Y/YX	uc001sog.2	protein_coding	YES	CCDS8942.1			203-204/2703									ovary(3)|central_nervous_system(1)|pancreas(1)	5	c.(202-204)TATfs				methionyl-tRNA synthetase	L-Methionine(DB00134)			ENSP00000262027		21-Mar									rs751080704	21-Mar	.		ENST00000262027	Transcript	1		methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	ENSG00000166986	g.chr12:57883052_57883053insT	6898	9		HIGH								--	--	1																																		ARHGAP9_uc001sod.2_5'Flank|ARHGAP9_uc001soe.1_5'Flank|MARS_uc001sof.1_RNA|MARS_uc010srp.1_Intron|MARS_uc010srq.1_5'UTR		1			p.Y68fs	NM_004990	NP_004981				SYMC_HUMAN	MARS	HGNC	P56192	SYMC_HUMAN	GBM - Glioblastoma multiforme(3;4.27e-41)				3	226_227	+			UPI0000136597	68					insertion	MARS,frameshift_variant,p.Leu71PhefsTer9,ENST00000262027,NM_004990.3;MARS,5_prime_UTR_variant,,ENST00000315473,;ARHGAP9,upstream_gene_variant,,ENST00000393797,;ARHGAP9,upstream_gene_variant,,ENST00000550288,;MARS,upstream_gene_variant,,ENST00000552371,;MARS,non_coding_transcript_exon_variant,,ENST00000548674,;MARS,non_coding_transcript_exon_variant,,ENST00000548146,;MARS,intron_variant,,ENST00000447721,;MARS,downstream_gene_variant,,ENST00000549133,;MARS,frameshift_variant,p.Leu71PhefsTer9,ENST00000537638,;MARS,frameshift_variant,p.Leu71PhefsTer9,ENST00000545888,;MARS,frameshift_variant,p.Leu71PhefsTer9,ENST00000551431,;MARS,frameshift_variant,p.Leu71PhefsTer9,ENST00000547501,;MARS,non_coding_transcript_exon_variant,,ENST00000550449,;MARS,non_coding_transcript_exon_variant,,ENST00000553123,;MARS,non_coding_transcript_exon_variant,,ENST00000551842,;MARS,non_coding_transcript_exon_variant,,ENST00000553162,;MARS,non_coding_transcript_exon_variant,,ENST00000547062,;MARS,non_coding_transcript_exon_variant,,ENST00000548714,;MARS,non_coding_transcript_exon_variant,,ENST00000546481,;MARS,intron_variant,,ENST00000551892,;MARS,intron_variant,,ENST00000549074,;MARS,intron_variant,,ENST00000552007,;	uc001sog.2	c.203_204insT	337-338/2905	5	5			c.203_204insT						12	INS	c.(202-204)TATfs	32	32			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Broad	methionyl-tRNA synthetase		L-Methionine(DB00134)	57883053		0.485	ENSG00000166986	9143	g.chr12:57883052_57883053insT	methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			9			9														0.01	1	0	0	1	1	0	0	0	0	--	--		0	T			ARHGAP9_uc001sod.2_5'Flank|ARHGAP9_uc001soe.1_5'Flank|MARS_uc001sof.1_RNA|MARS_uc010srp.1_Intron|MARS_uc010srq.1_5'UTR	216	GBM-28-5207-TP	p.Y68fs	-	CTGGGCAGATATTTTTTTTTGT	NM_004990	NP_004981	57883052	P56192	SYMC_HUMAN	0	GBM - Glioblastoma multiforme(3;4.27e-41)		3	226_227	+	T	T			Frame_Shift_Ins	68						
MARVELD2	153562	broad.mit.edu	GRCh37	5	68728420	68728420	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01	TCGA-06-2563-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325631.5:c.1249G>A	p.Ala417Thr	p.A417T	ENST00000325631	NM_001038603.2	417	Gca/Aca	0			1			A	A/T	uc003jwq.2	protein_coding	YES	CCDS34175.1			1249/1677										0	c.(1249-1251)GCA>ACA			hmmpanther:PTHR23288,hmmpanther:PTHR23288:SF3	MARVEL domain containing 2 isoform 1				ENSP00000323264		7-Apr									COSM3410385	7-Apr	.		ENST00000325631	Transcript	1		sensory perception of sound	integral to membrane|tight junction		ENSG00000152939	g.chr5:68728420G>A	26401			MODERATE		-1.385	neutral	getma.org/?cm=msa&ty=f&p=MALD2_HUMAN&rb=362&re=445&var=A417T	NA	getma.org/?cm=var&var=hg19,5,68728420,G,A&fts=all	A417T	--	--	1																																		MARVELD2_uc010ixf.2_Missense_Mutation_p.A405T|MARVELD2_uc003jwr.1_Missense_Mutation_p.A417T|MARVELD2_uc003jws.1_RNA	1	1		benign(0.001)	p.A417T	NM_001038603	NP_001033692		tolerated(0.71)	1	MALD2_HUMAN	MARVELD2	HGNC	Q8N4S9	MALD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)	D6RAH8_HUMAN,D6RA09_HUMAN		4	1308	+		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)	UPI00001416EB	417			Cytoplasmic (Potential).		SNV	MARVELD2,missense_variant,p.Ala405Thr,ENST00000454295,;MARVELD2,missense_variant,p.Ala417Thr,ENST00000325631,NM_001038603.2,NM_001244734.1;MARVELD2,missense_variant,p.Ala417Thr,ENST00000512803,;MARVELD2,missense_variant,p.Ala301Thr,ENST00000413223,;MARVELD2,missense_variant,p.Ala301Thr,ENST00000436532,;	uc003jwq.2	c.1249G>A	1323/2153	1	1			c.1249G>A						5	SNP	c.(1249-1251)GCA>ACA	64	64				0	Broad	MARVEL domain containing 2 isoform 1			68728420		0.448	ENSG00000152939	9145	g.chr5:68728420G>A	sensory perception of sound	integral to membrane|tight junction								-19.374637	KEEP	1	2	-1	46	63	1	2	-1	6.318576	46	63	0.028571	1	0	0	0	0	1	0	0	0	--	--		0	A			MARVELD2_uc010ixf.2_Missense_Mutation_p.A405T|MARVELD2_uc003jwr.1_Missense_Mutation_p.A417T|MARVELD2_uc003jws.1_RNA	86	GBM-06-2563-TP	p.A417T	G	ACTGAGAACAGCAAAAATGAA	NM_001038603	NP_001033692	68728420	Q8N4S9	MALD2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)	4	1308	+	A	A		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)	Missense_Mutation	417			Cytoplasmic (Potential).			
MARVELD2	153562		GRCh37	5	68737366	68737366	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000325631.5:c.1562C>T	p.Thr521Ile	p.T521I	ENST00000325631	NM_001038603.2	521	aCa/aTa	0																																																																																																																																																																																																																																												
MAS1L	116511	broad.mit.edu	GRCh37	6	29455605	29455605	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-06-0192-01	TCGA-06-0192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377127.3:c.75C>G	p.Leu25=	p.L25=	ENST00000377127	NM_052967.1	25	ctC/ctG	0			1			C	L	uc011dlq.1	protein_coding	YES	CCDS4661.1			75/1137									ovary(7)|lung(2)	9	c.(73-75)CTC>CTG				MAS1 oncogene-like				ENSP00000366331		1-Jan									COSM3410886	1-Jan	.		ENST00000377127	Transcript				cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	ENSG00000204687	g.chr6:29455605G>C	13961			LOW								--	--	1																																			1	1			p.L25L	NM_052967	NP_443199			1	MAS1L_HUMAN	MAS1L	HGNC	P35410	MAS1L_HUMAN					1	75	-			UPI000003B44C	25			Extracellular (Potential).		SNV	MAS1L,synonymous_variant,p.=,ENST00000377127,NM_052967.1;RPS17P1,downstream_gene_variant,,ENST00000396783,;	uc011dlq.1	c.75C>G	134/1265	3	3			c.75C>G						6	SNP	c.(73-75)CTC>CTG	64	64			ovary(7)|lung(2)	9	Broad	MAS1 oncogene-like			29455605		0.522	ENSG00000204687	9148	g.chr6:29455605G>C		cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	NSCLC(153;755 1987 3859 11251 32945)			NSCLC(153;755 1987 3859 11251 32945)			-10.848402	KEEP	6	3	-1	77	84	6	3	-1	22.255232	77	84	0.05625	1	0	0	0	0	0	0	1	0	--	--		0	C				44	GBM-06-0192-TP	p.L25L	G	GGCTACATGAGAGAGATATCT	NM_052967	NP_443199	29455605	P35410	MAS1L_HUMAN	0			1	75	-	C	C			Silent	25			Extracellular (Potential).			
MAS1L	0	broad.mit.edu	GRCh37	6	29455047	29455047	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-2573-01	TCGA-41-2573-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377127.3:c.633C>T	p.Phe211=	p.F211=	ENST00000377127	NM_052967.1	211	ttC/ttT	0			1			A	F	uc011dlq.1	protein_coding	YES	CCDS4661.1			633/1137									ovary(7)|lung(2)	9	c.(631-633)TTC>TTT			Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR11334,hmmpanther:PTHR11334:SF12,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	MAS1 oncogene-like				ENSP00000366331		1-Jan									COSM451133	1-Jan	.		ENST00000377127	Transcript				cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	ENSG00000204687	g.chr6:29455047G>A	13961			LOW								--	--	1																																			1	1			p.F211F	NM_052967	NP_443199			1	MAS1L_HUMAN	MAS1L	HGNC	P35410	MAS1L_HUMAN					1	633	-			UPI000003B44C	211			Extracellular (Potential).		SNV	MAS1L,synonymous_variant,p.=,ENST00000377127,NM_052967.1;RPS17P1,downstream_gene_variant,,ENST00000396783,;	uc011dlq.1	c.633C>T	692/1265	2	2			c.633C>T						6	SNP	c.(631-633)TTC>TTT	47	47			ovary(7)|lung(2)	9	Broad	MAS1 oncogene-like			29455047		0.433	ENSG00000204687	9148	g.chr6:29455047G>A		cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	NSCLC(153;755 1987 3859 11251 32945)			NSCLC(153;755 1987 3859 11251 32945)			109.022023	KEEP	18	21	-1	34	21	18	21	-1	109.402464	34	21	0.426829	1	0	0	0	0	0	0	1	0	--	--		0	A				252	GBM-41-2573-TP	p.F211F	G	AGTAAGTTAGGAAAAGTGATT	NM_052967	NP_443199	29455047	P35410	MAS1L_HUMAN	0			1	633	-	A	A			Silent	211			Extracellular (Potential).			
MASP2	10747	broad.mit.edu	GRCh37	1	11087589	11087589	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5411-01	TCGA-06-5411-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400897.3:c.1414C>T	p.Leu472Phe	p.L472F	ENST00000400897	NM_006610.3	472	Ctt/Ttt	0			1			A	L/F	uc001aru.2	protein_coding	YES	CCDS123.1			1414/2061									ovary(2)|pancreas(1)|skin(1)	4	c.(1414-1416)CTT>TTT			Prints_domain:PR00722,Superfamily_domains:SSF50494,PIRSF_domain:PIRSF001155,SMART_domains:SM00020,Gene3D:2.40.10.10,Pfam_domain:PF00089,hmmpanther:PTHR24255,hmmpanther:PTHR24255:SF10,PROSITE_profiles:PS50240	mannan-binding lectin serine protease 2 isoform				ENSP00000383690		11-Nov									COSM2153148	11-Nov	.		ENST00000400897	Transcript	1		complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	ENSG00000009724	g.chr1:11087589G>A	6902			MODERATE		3.5	medium	getma.org/?cm=msa&ty=f&p=MASP2_HUMAN&rb=445&re=679&var=L472F	getma.org/pdb.php?prot=MASP2_HUMAN&from=445&to=679&var=L472F	getma.org/?cm=var&var=hg19,1,11087589,G,A&fts=all	L472F	--	--	1																																			1	1		probably_damaging(1)	p.L472F	NM_006610	NP_006601		deleterious(0)	1	MASP2_HUMAN	MASP2	HGNC	O00187	MASP2_HUMAN	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)			11	1435	-	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	UPI0000161FB9	472			Peptidase S1.		SNV	MASP2,missense_variant,p.Leu472Phe,ENST00000400897,NM_006610.3;TARDBP,downstream_gene_variant,,ENST00000240185,NM_007375.3;TARDBP,downstream_gene_variant,,ENST00000315091,;TARDBP,downstream_gene_variant,,ENST00000439080,;RP4-635E18.8,upstream_gene_variant,,ENST00000607145,;TARDBP,downstream_gene_variant,,ENST00000480464,;TARDBP,downstream_gene_variant,,ENST00000473869,;TARDBP,downstream_gene_variant,,ENST00000496840,;TARDBP,downstream_gene_variant,,ENST00000477447,;	uc001aru.2	c.1414C>T	1430/2439	2	2			c.1414C>T						1	SNP	c.(1414-1416)CTT>TTT	32	32			ovary(2)|pancreas(1)|skin(1)	4	Broad	mannan-binding lectin serine protease 2 isoform			11087589		0.493	ENSG00000009724	9150	g.chr1:11087589G>A	complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	GBM(35;611 746 20780 22741 36496)			GBM(35;611 746 20780 22741 36496)			184.09223	KEEP	37	32	-1	32	57	37	32	-1	184.831377	32	57	0.422535	1	0	0	0	0	1	0	0	0	--	--		0	A				94	GBM-06-5411-TP	p.L472F	G	TCATATAAAAGTGCACCTGCT	NM_006610	NP_006601	11087589	O00187	MASP2_HUMAN	0	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	11	1435	-	A	A	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	472			Peptidase S1.			
MASP2	0	broad.mit.edu	GRCh37	1	11107017	11107017	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0813-01	TCGA-14-0813-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400897.3:c.165C>T	p.Tyr55=	p.Y55=	ENST00000400897	NM_006610.3	55	taC/taT	0			1			A	Y	uc001aru.2	protein_coding	YES	CCDS123.1			165/2061									ovary(2)|pancreas(1)|skin(1)	4	c.(163-165)TAC>TAT			Superfamily_domains:SSF49854,PIRSF_domain:PIRSF001155,SMART_domains:SM00042,Pfam_domain:PF00431,Gene3D:2.60.120.290,hmmpanther:PTHR24255,hmmpanther:PTHR24255:SF10,PROSITE_profiles:PS01180	mannan-binding lectin serine protease 2 isoform				ENSP00000383690		11-Feb									COSM3399534	11-Feb	.		ENST00000400897	Transcript	1		complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	ENSG00000009724	g.chr1:11107017G>A	6902			LOW								--	--	1																																		MASP2_uc001arv.2_Silent_p.Y55Y|MASP2_uc001arw.2_Silent_p.Y55Y|MASP2_uc001arx.1_Silent_p.Y55Y	1	1			p.Y55Y	NM_006610	NP_006601			1	MASP2_HUMAN	MASP2	HGNC	O00187	MASP2_HUMAN	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)			2	186	-	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	UPI0000161FB9	55			CUB 1.		SNV	MASP2,synonymous_variant,p.=,ENST00000400897,NM_006610.3;MASP2,synonymous_variant,p.=,ENST00000400898,NM_139208.2;MASP2,non_coding_transcript_exon_variant,,ENST00000480221,;MASP2,upstream_gene_variant,,ENST00000478645,;	uc001aru.2	c.165C>T	181/2439	1	1			c.165C>T						1	SNP	c.(163-165)TAC>TAT	60	60			ovary(2)|pancreas(1)|skin(1)	4	Broad	mannan-binding lectin serine protease 2 isoform			11107017		0.657	ENSG00000009724	9150	g.chr1:11107017G>A	complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	GBM(35;611 746 20780 22741 36496)			GBM(35;611 746 20780 22741 36496)			20.223933	KEEP	4	3	-1	7	2	4	3	-1	20.223933	7	2	0.5	1	0	0	0	0	0	0	1	0	--	--		0	A			MASP2_uc001arv.2_Silent_p.Y55Y|MASP2_uc001arw.2_Silent_p.Y55Y|MASP2_uc001arx.1_Silent_p.Y55Y	138	GBM-14-0813-TP	p.Y55Y	G	GGCGCAGGCGGTAGCCGGGGG	NM_006610	NP_006601	11107017	O00187	MASP2_HUMAN	0	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	2	186	-	A	A	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	Silent	55			CUB 1.			
MAST1	22983	broad.mit.edu	GRCh37	19	12975736	12975736	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251472.4:c.1480G>A	p.Val494Met	p.V494M	ENST00000251472	NM_014975.2	494	Gtg/Atg	0			1			A	V/M	uc002mvm.2	protein_coding	YES	CCDS32921.1			1480/4713									ovary(3)|lung(2)|large_intestine(1)|skin(1)	7	c.(1480-1482)GTG>ATG			Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_patterns:PS00108,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF150,PROSITE_profiles:PS50011	microtubule associated serine/threonine kinase				ENSP00000251472		13/26	8.24E-06		8.64E-05						rs755153742,COSM3403791,COSM3403790	13/26	.		ENST00000251472	Transcript			cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	ENSG00000105613	g.chr19:12975736G>A	19034			MODERATE		1.84	low	getma.org/?cm=msa&ty=f&p=MAST1_HUMAN&rb=374&re=647&var=V494M	getma.org/pdb.php?prot=MAST1_HUMAN&from=374&to=647&var=V494M	getma.org/?cm=var&var=hg19,19,12975736,G,A&fts=all	V494M	--	--	1																																			0,1,1	1		probably_damaging(1)	p.V494M	NM_014975	NP_055790		deleterious(0.01)	0,1,1	MAST1_HUMAN	MAST1	HGNC	Q9Y2H9	MAST1_HUMAN					13	1608	+			UPI000004A042	494			Protein kinase.		SNV	MAST1,missense_variant,p.Val494Met,ENST00000251472,NM_014975.2;HOOK2,intron_variant,,ENST00000589765,;MAST1,non_coding_transcript_exon_variant,,ENST00000589040,;MAST1,upstream_gene_variant,,ENST00000590553,;	uc002mvm.2	c.1480G>A	1519/4833	2	2			c.1480G>A						19	SNP	c.(1480-1482)GTG>ATG	34	34			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7	Broad	microtubule associated serine/threonine kinase			12975736		0.572	ENSG00000105613	9151	g.chr19:12975736G>A	cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			239			239	226.096335	KEEP	28	47	-1	14	5	28	47	-1	233.204071	14	5	0.804878	1	0	0	0	0	1	0	0	0	--	--		0	A				102	GBM-06-5858-TP	p.V494M	G	CTATGGCATCGTGCACCGCGA	NM_014975	NP_055790	12975736	Q9Y2H9	MAST1_HUMAN	0			13	1608	+	A	A			Missense_Mutation	494			Protein kinase.			
MAST1	0	broad.mit.edu	GRCh37	19	12979571	12979571	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01	TCGA-28-2509-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251472.4:c.2681G>A	p.Gly894Glu	p.G894E	ENST00000251472	NM_014975.2	894	gGg/gAg	0			1			A	G/E	uc002mvm.2	protein_coding	YES	CCDS32921.1			2681/4713									ovary(3)|lung(2)|large_intestine(1)|skin(1)	7	c.(2680-2682)GGG>GAG			hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF150	microtubule associated serine/threonine kinase				ENSP00000251472		21/26									COSM296241,COSM296242	21/26	.		ENST00000251472	Transcript			cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	ENSG00000105613	g.chr19:12979571G>A	19034			MODERATE		2.085	medium	getma.org/?cm=msa&ty=f&p=MAST1_HUMAN&rb=848&re=967&var=G894E	NA	getma.org/?cm=var&var=hg19,19,12979571,G,A&fts=all	G894E	--	--	1																																			1,1	1		possibly_damaging(0.642)	p.G894E	NM_014975	NP_055790		deleterious_low_confidence(0.03)	1,1	MAST1_HUMAN	MAST1	HGNC	Q9Y2H9	MAST1_HUMAN					21	2809	+			UPI000004A042	894					SNV	MAST1,missense_variant,p.Gly894Glu,ENST00000251472,NM_014975.2;AC020934.1,downstream_gene_variant,,ENST00000578125,;HOOK2,intron_variant,,ENST00000589765,;MAST1,non_coding_transcript_exon_variant,,ENST00000590553,;MAST1,upstream_gene_variant,,ENST00000585791,;MAST1,downstream_gene_variant,,ENST00000589040,;	uc002mvm.2	c.2681G>A	2720/4833	1	1			c.2681G>A						19	SNP	c.(2680-2682)GGG>GAG	63	63			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7	Broad	microtubule associated serine/threonine kinase			12979571		0.577	ENSG00000105613	9151	g.chr19:12979571G>A	cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			239			239	395.045149	KEEP	59	72	-1	52	45	59	72	-1	395.955695	52	45	0.572139	1	0	0	0	0	1	0	0	0	--	--		0	A				211	GBM-28-2509-TP	p.G894E	G	CAGATGTCAGGGGATGTGGCA	NM_014975	NP_055790	12979571	Q9Y2H9	MAST1_HUMAN	0			21	2809	+	A	A			Missense_Mutation	894						
MAST2	23139	broad.mit.edu	GRCh37	1	46500629	46500629	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361297.2:c.4288C>T	p.Leu1430Phe	p.L1430F	ENST00000361297	NM_015112.2	1430	Ctt/Ttt	0			1			T	L/F	uc001cov.2	protein_coding	YES	CCDS41326.1			4288/5397									ovary(5)|lung(3)|stomach(2)|breast(1)	11	c.(4288-4290)CTT>TTT				microtubule associated serine/threonine kinase				ENSP00000354671		29/29									COSM3400841	29/29	.		ENST00000361297	Transcript			regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	ENSG00000086015	g.chr1:46500629C>T	19035			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=MAST2_HUMAN&rb=1417&re=1491&var=L1430F	NA	getma.org/?cm=var&var=hg19,1,46500629,C,T&fts=all	L1430F	--	--	1																																		MAST2_uc001cow.2_Missense_Mutation_p.L1429F|MAST2_uc001cpa.2_RNA	1	1		probably_damaging(0.998)	p.L1430F	NM_015112	NP_055927		deleterious_low_confidence(0)	1	MAST2_HUMAN	MAST2	HGNC	Q6P0Q8	MAST2_HUMAN			Q9NT11_HUMAN		29	4571	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		UPI0000458AEB	1430					SNV	MAST2,missense_variant,p.Leu1430Phe,ENST00000361297,NM_015112.2;MAST2,missense_variant,p.Leu1240Phe,ENST00000372009,;MAST2,downstream_gene_variant,,ENST00000372008,;MAST2,downstream_gene_variant,,ENST00000477968,;MAST2,downstream_gene_variant,,ENST00000492813,;	uc001cov.2	c.4288C>T	4571/5738	2	2			c.4288C>T						1	SNP	c.(4288-4290)CTT>TTT	46	46			ovary(5)|lung(3)|stomach(2)|breast(1)	11	Broad	microtubule associated serine/threonine kinase			46500629		0.592	ENSG00000086015	9152	g.chr1:46500629C>T	regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			975			975	40.364279	KEEP	6	15	-1	44	42	6	15	-1	47.052413	44	42	0.2	1	0	0	0	0	1	0	0	0	--	--		0	T			MAST2_uc001cow.2_Missense_Mutation_p.L1429F|MAST2_uc001cpa.2_RNA	65	GBM-06-0743-TP	p.L1430F	C	CAAGCACAGCCTTGACCTGCC	NM_015112	NP_055927	46500629	Q6P0Q8	MAST2_HUMAN	0			29	4571	+	T	T	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		Missense_Mutation	1430						
MAST3	0	broad.mit.edu	GRCh37	19	18255858	18255858	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-14-1395-01	TCGA-14-1395-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262811.6:c.2771C>G	p.Ser924Cys	p.S924C	ENST00000262811	NM_015016.1	924	tCt/tGt	0			1			G	S/C	uc002nhz.3	protein_coding	YES	CCDS46014.1			2771/3930									large_intestine(2)|ovary(2)|stomach(1)	5	c.(2770-2772)TCT>TGT			hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF140,Low_complexity_(Seg):seg	microtubule associated serine/threonine kinase				ENSP00000262811		23/27									COSM3403952	23/27	.		ENST00000262811	Transcript					ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	ENSG00000099308	g.chr19:18255858C>G	19036			MODERATE		2.805	medium	getma.org/?cm=msa&ty=f&p=MAST3_HUMAN&rb=841&re=950&var=S924C	NA	getma.org/?cm=var&var=hg19,19,18255858,C,G&fts=all	S924C	--	--	1																																			1	1		probably_damaging(0.998)	p.S924C	NM_015016	NP_055831		deleterious(0)	1	MAST3_HUMAN	MAST3	HGNC	O60307	MAST3_HUMAN					23	2771	+			UPI00001D8275	924			Ser-rich.		SNV	MAST3,missense_variant,p.Ser924Cys,ENST00000262811,NM_015016.1;AC007192.6,intron_variant,,ENST00000600364,;MAST3,intron_variant,,ENST00000609076,;MAST3,downstream_gene_variant,,ENST00000609494,;	uc002nhz.3	c.2771C>G	2771/5896	3	3			c.2771C>G						19	SNP	c.(2770-2772)TCT>TGT	1	1			large_intestine(2)|ovary(2)|stomach(1)	5	Broad	microtubule associated serine/threonine kinase			18255858		0.682	ENSG00000099308	9153	g.chr19:18255858C>G			ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			374			374	65.571985	KEEP	9	12	-1	17	19	9	12	-1	65.916725	17	19	0.411765	1	0	0	0	0	1	0	0	0	--	--		0	G				144	GBM-14-1395-TP	p.S924C	C	TCCCCGCGCTCTCTGTCCTCG	NM_015016	NP_055831	18255858	O60307	MAST3_HUMAN	0			23	2771	+	G	G			Missense_Mutation	924			Ser-rich.			
MAST3	0	broad.mit.edu	GRCh37	19	18218415	18218415	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01	TCGA-26-5136-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262811.6:c.58C>T	p.Arg20Cys	p.R20C	ENST00000262811	NM_015016.1	20	Cgc/Tgc	0			1			T	R/C	uc002nhz.3	protein_coding	YES	CCDS46014.1			58/3930									large_intestine(2)|ovary(2)|stomach(1)	5	c.(58-60)CGC>TGC			hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF140	microtubule associated serine/threonine kinase				ENSP00000262811		27-Feb									COSM3403951	27-Feb	.		ENST00000262811	Transcript					ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	ENSG00000099308	g.chr19:18218415C>T	19036			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=MAST3_HUMAN&rb=1&re=57&var=R20C	NA	getma.org/?cm=var&var=hg19,19,18218415,C,T&fts=all	R20C	--	--	1																																			1	1		possibly_damaging(0.459)	p.R20C	NM_015016	NP_055831		deleterious(0)	1	MAST3_HUMAN	MAST3	HGNC	O60307	MAST3_HUMAN					2	58	+			UPI00001D8275	20					SNV	MAST3,missense_variant,p.Arg20Cys,ENST00000262811,NM_015016.1;MAST3,upstream_gene_variant,,ENST00000608648,;	uc002nhz.3	c.58C>T	58/5896	1	1			c.58C>T						19	SNP	c.(58-60)CGC>TGC	1	1			large_intestine(2)|ovary(2)|stomach(1)	5	Broad	microtubule associated serine/threonine kinase			18218415		0.572	ENSG00000099308	9153	g.chr19:18218415C>T			ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			374			374	231.227064	KEEP	56	57	-1	44	45	56	57	-1	231.896016	44	45	0.576923	1	0	0	0	0	1	0	0	0	--	--		0	T				185	GBM-26-5136-TP	p.R20C	C	GAGCCTGCCACGCCGAGGACG	NM_015016	NP_055831	18218415	O60307	MAST3_HUMAN	0			2	58	+	T	T			Missense_Mutation	20						
MAST4	0	broad.mit.edu	GRCh37	5	66460510	66460510	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01	TCGA-26-1439-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000403625.2:c.5503G>A	p.Val1835Met	p.V1835M	ENST00000403625	NM_001164664.1	1835	Gtg/Atg	0			1			A	V/M	uc003jut.1	protein_coding	YES	CCDS54861.1			5503/7872									lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13	c.(4936-4938)GTG>ATG				microtubule associated serine/threonine kinase				ENSP00000385727		29/29									rs779452986,COSM3410358,COSM3410355,COSM3410356,COSM3410357	29/29	.		ENST00000403625	Transcript				cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	ENSG00000069020	g.chr5:66460510G>A	19037			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=MAST4_HUMAN&rb=1824&re=2624&var=V1838M	NA	getma.org/?cm=var&var=hg19,5,66460510,G,A&fts=all	V1838M	--	--	1																																		MAST4_uc003juw.2_Missense_Mutation_p.V1574M|MAST4_uc003jux.2_5'Flank	0,1,1,1,1	1		benign(0.026)	p.V1646M	NM_015183	NP_055998			0,1,1,1,1		MAST4	HGNC	O15021	MAST4_HUMAN		Lung(70;0.011)	J3QT34_HUMAN		28	5004	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	UPI000173A2B0	1838					SNV	MAST4,missense_variant,p.Val1838Met,ENST00000404260,;MAST4,missense_variant,p.Val1835Met,ENST00000403625,NM_001164664.1;MAST4,missense_variant,p.Val1656Met,ENST00000405643,;MAST4,missense_variant,p.Val1641Met,ENST00000261569,;MAST4,missense_variant,p.Val1646Met,ENST00000403666,NM_015183.2;MAST4,missense_variant,p.Val892Met,ENST00000443808,;	uc003jut.1	c.4936G>A	5798/10711	2	2			c.4936G>A						5	SNP	c.(4936-4938)GTG>ATG	20	20			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13	Broad	microtubule associated serine/threonine kinase			66460510		0.562	ENSG00000069020	9154	g.chr5:66460510G>A		cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			805			805	151.342937	KEEP	28	30	-1	28	54	28	30	-1	151.974965	28	54	0.424	1	0	0	0	0	1	0	0	0	--	--		0	A			MAST4_uc003juw.2_Missense_Mutation_p.V1574M|MAST4_uc003jux.2_5'Flank	179	GBM-26-1439-TP	p.V1646M	G	AAGTGGTGACGTGAGGGCCTC	NM_015183	NP_055998	66460510	O15021	MAST4_HUMAN	0		Lung(70;0.011)	28	5004	+	A	A		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	Missense_Mutation	1838						
MAST4	0	broad.mit.edu	GRCh37	5	66460727	66460727	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-26-6174-01	TCGA-26-6174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000403625.2:c.5720C>A	p.Ala1907Asp	p.A1907D	ENST00000403625	NM_001164664.1	1907	gCc/gAc	0			1			A	A/D	uc003jut.1	protein_coding	YES	CCDS54861.1			5720/7872									lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13	c.(5152-5154)GCC>GAC				microtubule associated serine/threonine kinase				ENSP00000385727		29/29									COSM3410362,COSM3410359,COSM3410360,COSM3410361	29/29	.		ENST00000403625	Transcript				cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	ENSG00000069020	g.chr5:66460727C>A	19037			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=MAST4_HUMAN&rb=1824&re=2624&var=A1910D	NA	getma.org/?cm=var&var=hg19,5,66460727,C,A&fts=all	A1910D	--	--	1																																		MAST4_uc003juw.2_Missense_Mutation_p.A1646D|MAST4_uc003jux.2_5'Flank	1,1,1,1	1		possibly_damaging(0.662)	p.A1718D	NM_015183	NP_055998			1,1,1,1		MAST4	HGNC	O15021	MAST4_HUMAN		Lung(70;0.011)	J3QT34_HUMAN		28	5221	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	UPI000173A2B0	1910					SNV	MAST4,missense_variant,p.Ala1910Asp,ENST00000404260,;MAST4,missense_variant,p.Ala1907Asp,ENST00000403625,NM_001164664.1;MAST4,missense_variant,p.Ala1728Asp,ENST00000405643,;MAST4,missense_variant,p.Ala1713Asp,ENST00000261569,;MAST4,missense_variant,p.Ala1718Asp,ENST00000403666,NM_015183.2;MAST4,missense_variant,p.Ala964Asp,ENST00000443808,;	uc003jut.1	c.5153C>A	6015/10711	1	1			c.5153C>A						5	SNP	c.(5152-5154)GCC>GAC	63	63			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13	Broad	microtubule associated serine/threonine kinase			66460727		0.582	ENSG00000069020	9154	g.chr5:66460727C>A		cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			805			805	36.65107	KEEP	12	4	0.25	28	19	12	4	0.25	39.678719	28	19	0.258621	1	0	0	0	0	1	0	0	0	--	--		0	A			MAST4_uc003juw.2_Missense_Mutation_p.A1646D|MAST4_uc003jux.2_5'Flank	188	GBM-26-6174-TP	p.A1718D	C	CATCCTACTGCCAGGAGCCCT	NM_015183	NP_055998	66460727	O15021	MAST4_HUMAN	0		Lung(70;0.011)	28	5221	+	A	A		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	Missense_Mutation	1910						
MAST4	0	broad.mit.edu	GRCh37	5	66084566	66084566	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01	TCGA-28-5219-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000403625.2:c.586G>A	p.Val196Met	p.V196M	ENST00000403625	NM_001164664.1	196	Gtg/Atg	0	C:0.0003		1			A	V/M	uc003jur.3	protein_coding	YES	CCDS54861.1			586/7872									lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13	c.(586-588)GTG>ATG			hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF139	microtubule associated serine/threonine kinase			C:0	ENSP00000385727		29-Mar	2.48E-05			0.000239		1.57E-05			rs369899614,COSM3410345	29-Mar	.		ENST00000403625	Transcript				cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	ENSG00000069020	g.chr5:66084566G>A	19037			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=MAST4_HUMAN&rb=105&re=257&var=V196M	NA	getma.org/?cm=var&var=hg19,5,66084566,G,A&fts=all	V196M	--	--	1																																		MAST4_uc010iwz.2_Missense_Mutation_p.V196M	0,1	1		possibly_damaging(0.886)	p.V196M	NM_198828	NP_942123			0,1		MAST4	HGNC	O15021	MAST4_HUMAN		Lung(70;0.011)	J3QT34_HUMAN		3	894	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	UPI000173A2B0	196					SNV	MAST4,missense_variant,p.Val196Met,ENST00000404260,;MAST4,missense_variant,p.Val196Met,ENST00000403625,NM_001164664.1;MAST4,missense_variant,p.Val196Met,ENST00000406374,NM_198828.2;MAST4,missense_variant,p.Val196Met,ENST00000406039,;MAST4,missense_variant,p.Val69Met,ENST00000452953,;MAST4,missense_variant,p.Val68Met,ENST00000432817,;MAST4,missense_variant,p.Val3Met,ENST00000434115,;MAST4,upstream_gene_variant,,ENST00000411628,;MAST4,non_coding_transcript_exon_variant,,ENST00000451144,;MAST4,downstream_gene_variant,,ENST00000478569,;	uc003jur.3	c.586G>A	881/10711	1	1			c.586G>A						5	SNP	c.(586-588)GTG>ATG	54	54			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13	Broad	microtubule associated serine/threonine kinase			66084566		0.657	ENSG00000069020	9154	g.chr5:66084566G>A		cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			805			805	27.676124	KEEP	6	7	-1	22	18	6	7	-1	30.581021	22	18	0.244898	1	0	0	0	0	1	0	0	0	--	--		0	A			MAST4_uc010iwz.2_Missense_Mutation_p.V196M	225	GBM-28-5219-TP	p.V196M	G	GTCCAACCTCGTGCGCATGCG	NM_198828	NP_942123	66084566	O15021	MAST4_HUMAN	0		Lung(70;0.011)	3	894	+	A	A		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	Missense_Mutation	196						
MAT1A	0	broad.mit.edu	GRCh37	10	82034333	82034333	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01	TCGA-27-1838-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372213.3:c.1028G>A	p.Arg343Gln	p.R343Q	ENST00000372213	NM_000429.2	343	cGa/cAa	0	T:0.0002		1			T	R/Q	uc001kbw.2	protein_coding	YES	CCDS7365.1			1028/1188										0	c.(1027-1029)CGA>CAA			HAMAP:MF_00086,hmmpanther:PTHR11964:SF11,hmmpanther:PTHR11964,Gene3D:3.30.300.10,Pfam_domain:PF02773,TIGRFAM_domain:TIGR01034,PIRSF_domain:PIRSF000497,Superfamily_domains:SSF55973	methionine adenosyltransferase I, alpha	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)		T:0	ENSP00000361287		9-Aug	1.65E-05	9.61E-05				1.50E-05			rs370173781,COSM275999	9-Aug	.		ENST00000372213	Transcript	1		methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	ENSG00000151224	g.chr10:82034333C>T	6903			MODERATE		0.035	neutral	getma.org/?cm=msa&ty=f&p=METK1_HUMAN&rb=252&re=389&var=R343Q	getma.org/pdb.php?prot=METK1_HUMAN&from=252&to=389&var=R343Q	getma.org/?cm=var&var=hg19,10,82034333,C,T&fts=all	R343Q	--	--	1																																			0,1	1		benign(0.001)	p.R343Q	NM_000429	NP_000420		tolerated(0.29)	0,1	METK1_HUMAN	MAT1A	HGNC	Q00266	METK1_HUMAN	Colorectal(32;0.229)				8	1283	-			UPI000012EFF3	343					SNV	MAT1A,missense_variant,p.Arg343Gln,ENST00000372213,NM_000429.2;MAT1A,downstream_gene_variant,,ENST00000455001,;MAT1A,non_coding_transcript_exon_variant,,ENST00000485270,;MAT1A,non_coding_transcript_exon_variant,,ENST00000480845,;	uc001kbw.2	c.1028G>A	1289/3410	2	2			c.1028G>A						10	SNP	c.(1027-1029)CGA>CAA	44	44				0	Broad	methionine adenosyltransferase I, alpha		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	82034333		0.557	ENSG00000151224	9156	g.chr10:82034333C>T	methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity							214.143435	KEEP	33	34	-1	11	20	33	34	-1	217.996917	11	20	0.719101	1	0	0	0	0	1	0	0	0	--	--		0	T				197	GBM-27-1838-TP	p.R343Q	C	CAGCAGCTCTCGCTCTGTCTT	NM_000429	NP_000420	82034333	Q00266	METK1_HUMAN	0	Colorectal(32;0.229)		8	1283	-	T	T			Missense_Mutation	343						
MAT1A	0	broad.mit.edu	GRCh37	10	82034790	82034790	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01	TCGA-27-2526-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372213.3:c.934C>T	p.Arg312Trp	p.R312W	ENST00000372213	NM_000429.2	312	Cgg/Tgg	0			1			A	R/W	uc001kbw.2	protein_coding	YES	CCDS7365.1			934/1188										0	c.(934-936)CGG>TGG			HAMAP:MF_00086,hmmpanther:PTHR11964:SF11,hmmpanther:PTHR11964,Gene3D:3.30.300.10,Pfam_domain:PF02773,TIGRFAM_domain:TIGR01034,PIRSF_domain:PIRSF000497,Superfamily_domains:SSF55973	methionine adenosyltransferase I, alpha	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)			ENSP00000361287		9-Jul									rs765196481,COSM3397267	9-Jul	.		ENST00000372213	Transcript	1		methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	ENSG00000151224	g.chr10:82034790G>A	6903			MODERATE		3.525	high	getma.org/?cm=msa&ty=f&p=METK1_HUMAN&rb=252&re=389&var=R312W	getma.org/pdb.php?prot=METK1_HUMAN&from=252&to=389&var=R312W	getma.org/?cm=var&var=hg19,10,82034790,G,A&fts=all	R312W	--	--	1																																			0,1	1		probably_damaging(0.987)	p.R312W	NM_000429	NP_000420		deleterious(0)	0,1	METK1_HUMAN	MAT1A	HGNC	Q00266	METK1_HUMAN	Colorectal(32;0.229)				7	1189	-			UPI000012EFF3	312					SNV	MAT1A,missense_variant,p.Arg312Trp,ENST00000372213,NM_000429.2;MAT1A,downstream_gene_variant,,ENST00000455001,;MAT1A,non_coding_transcript_exon_variant,,ENST00000485270,;MAT1A,non_coding_transcript_exon_variant,,ENST00000480845,;	uc001kbw.2	c.934C>T	1195/3410	1	1			c.934C>T						10	SNP	c.(934-936)CGG>TGG	53	53				0	Broad	methionine adenosyltransferase I, alpha		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	82034790		0.632	ENSG00000151224	9156	g.chr10:82034790G>A	methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity							13.50184	KEEP	2	2	-1	1	2	2	2	-1	13.649386	1	2	0.666667	1	0	0	0	0	1	0	0	0	--	--		0	A				203	GBM-27-2526-TP	p.R312W	G	AGCACTCTCCGGCAGAGCCCT	NM_000429	NP_000420	82034790	Q00266	METK1_HUMAN	0	Colorectal(32;0.229)		7	1189	-	A	A			Missense_Mutation	312						
MAT2B	0	broad.mit.edu	GRCh37	5	162932707	162932707	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-1597-01	TCGA-12-1597-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321757.6:c.15G>A	p.Glu5=	p.E5=	ENST00000321757	NM_013283.4	5	gaG/gaA	0			1			A	E	uc003lzk.2	protein_coding	YES	CCDS4365.1			15/1005									upper_aerodigestive_tract(1)	1	c.(13-15)GAG>GAA				methionine adenosyltransferase II, beta isoform	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)			ENSP00000325425		7-Jan									COSM3410091	7-Jan	.		ENST00000321757	Transcript			extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding	ENSG00000038274	g.chr5:162932707G>A	6905			LOW								--	--	1																																OREG0017003	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	MAT2B_uc003lzj.2_Intron|MAT2B_uc003lzl.1_Silent_p.E5E	1	1			p.E5E	NM_013283	NP_037415			1	MAT2B_HUMAN	MAT2B	HGNC	Q9NZL9	MAT2B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)			1	123	+	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	UPI0000037B81	5					SNV	MAT2B,synonymous_variant,p.=,ENST00000518095,;MAT2B,synonymous_variant,p.=,ENST00000321757,NM_013283.4;MAT2B,synonymous_variant,p.=,ENST00000421814,;MAT2B,intron_variant,,ENST00000280969,NM_182796.2;MAT2B,synonymous_variant,p.=,ENST00000520449,;MAT2B,non_coding_transcript_exon_variant,,ENST00000523606,;MAT2B,intron_variant,,ENST00000519719,;	uc003lzk.2	c.15G>A	154/2103	1	1			c.15G>A						5	SNP	c.(13-15)GAG>GAA	63	63			upper_aerodigestive_tract(1)	1	Broad	methionine adenosyltransferase II, beta isoform		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	162932707		0.706	ENSG00000038274	9158	g.chr5:162932707G>A	extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding							8.921031	KEEP	3	2	-1	5	3	3	2	-1	9.278426	5	3	0.3	1	0	0	0	0	0	0	1	0	--	--		0	A	OREG0017003	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	MAT2B_uc003lzj.2_Intron|MAT2B_uc003lzl.1_Silent_p.E5E	124	GBM-12-1597-TP	p.E5E	G	TGGGGCGGGAGAAAGAGCTCT	NM_013283	NP_037415	162932707	Q9NZL9	MAT2B_HUMAN	0	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	1	123	+	A	A	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Silent	5						
MAT2B	0	broad.mit.edu	GRCh37	5	162945327	162945327	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-27-1830-01	TCGA-27-1830-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321757.6:c.963T>G	p.Pro321=	p.P321=	ENST00000321757	NM_013283.4	321	ccT/ccG	0			1			G	P	uc003lzk.2	protein_coding	YES	CCDS4365.1			963/1005									upper_aerodigestive_tract(1)	1	c.(961-963)CCT>CCG			hmmpanther:PTHR10491,hmmpanther:PTHR10491:SF2,Pfam_domain:PF04321	methionine adenosyltransferase II, beta isoform	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)			ENSP00000325425		7-Jul									COSM3410092	7-Jul	.		ENST00000321757	Transcript			extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding	ENSG00000038274	g.chr5:162945327T>G	6905			LOW								--	--	1																																		MAT2B_uc003lzj.2_Silent_p.P310P|MAT2B_uc003lzl.1_3'UTR|MAT2B_uc003lzm.2_Silent_p.P61P	1	1			p.P321P	NM_013283	NP_037415			1	MAT2B_HUMAN	MAT2B	HGNC	Q9NZL9	MAT2B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)			7	1071	+	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	UPI0000037B81	321					SNV	MAT2B,synonymous_variant,p.=,ENST00000280969,NM_182796.2;MAT2B,synonymous_variant,p.=,ENST00000321757,NM_013283.4;MAT2B,3_prime_UTR_variant,,ENST00000518095,;MAT2B,downstream_gene_variant,,ENST00000421814,;MAT2B,non_coding_transcript_exon_variant,,ENST00000521838,;MAT2B,non_coding_transcript_exon_variant,,ENST00000523606,;MAT2B,downstream_gene_variant,,ENST00000520449,;	uc003lzk.2	c.963T>G	1102/2103	4	4			c.963T>G						5	SNP	c.(961-963)CCT>CCG	25	25			upper_aerodigestive_tract(1)	1	Broad	methionine adenosyltransferase II, beta isoform		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	162945327		0.388	ENSG00000038274	9158	g.chr5:162945327T>G	extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding							-0.69589	KEEP	11	2	-1	92	58	11	2	-1	26.044577	92	58	0.075862	1	0	0	0	0	0	0	1	0	--	--		0	G			MAT2B_uc003lzj.2_Silent_p.P310P|MAT2B_uc003lzl.1_3'UTR|MAT2B_uc003lzm.2_Silent_p.P61P	189	GBM-27-1830-TP	p.P321P	T	CACTTTGGCCTTTCCTCATTG	NM_013283	NP_037415	162945327	Q9NZL9	MAT2B_HUMAN	0	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	7	1071	+	G	G	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Silent	321						
MATK	4145	broad.mit.edu	GRCh37	19	3783147	3783147	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01	TCGA-02-2470-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395045.2:c.656C>T	p.Ser219Leu	p.S219L	ENST00000395045	NM_002378.3	219	tCg/tTg	0			1			A	S/L	uc002lyt.2	protein_coding		CCDS12114.1			653/1524									stomach(2)|ovary(1)|lung(1)|large_intestine(1)	5	c.(652-654)TCG>TTG			hmmpanther:PTHR24418:SF50,hmmpanther:PTHR24418,Gene3D:3.30.200.20,Superfamily_domains:SSF55550	megakaryocyte-associated tyrosine kinase isoform				ENSP00000308734		14-Jul	8.24E-06					1.51E-05			rs767457416,COSM3404162,COSM3404161	14-Jul	.		ENST00000310132	Transcript			cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	ENSG00000007264	g.chr19:3783147G>A	6906			MODERATE		1.78	low	getma.org/?cm=msa&ty=f&p=MATK_HUMAN&rb=197&re=234&var=S218L	getma.org/pdb.php?prot=MATK_HUMAN&from=197&to=234&var=S218L	getma.org/?cm=var&var=hg19,19,3783147,G,A&fts=all	S218L	--	--	1																																		MATK_uc002lyv.2_Missense_Mutation_p.S219L|MATK_uc002lyu.2_Missense_Mutation_p.S177L|MATK_uc010dtq.2_Missense_Mutation_p.S218L	0,1,1			probably_damaging(0.996)	p.S218L	NM_139355	NP_647612		deleterious(0.05)	0,1,1	MATK_HUMAN	MATK	HGNC	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	K7ERY4_HUMAN,K7EQV3_HUMAN,K7ENL8_HUMAN,F1T0G6_HUMAN		7	1053	-		Hepatocellular(1079;0.137)	UPI0000000C50	218					SNV	MATK,missense_variant,p.Ser218Leu,ENST00000310132,NM_139355.2;MATK,missense_variant,p.Ser219Leu,ENST00000395045,NM_002378.3;MATK,missense_variant,p.Ser218Leu,ENST00000585778,;MATK,missense_variant,p.Ser177Leu,ENST00000395040,NM_139354.2;MATK,missense_variant,p.Ser133Leu,ENST00000590493,;MATK,missense_variant,p.Ser99Leu,ENST00000587180,;MATK,missense_variant,p.Ser85Leu,ENST00000588983,;MATK,downstream_gene_variant,,ENST00000590028,;MATK,downstream_gene_variant,,ENST00000591059,;MATK,downstream_gene_variant,,ENST00000590849,;MATK,downstream_gene_variant,,ENST00000590980,;MATK,downstream_gene_variant,,ENST00000590821,;	uc002lyt.2	c.653C>T	1052/2133	2	2			c.653C>T						19	SNP	c.(652-654)TCG>TTG	17	17			stomach(2)|ovary(1)|lung(1)|large_intestine(1)	5	Broad	megakaryocyte-associated tyrosine kinase isoform			3783147		0.657	ENSG00000007264	9159	g.chr19:3783147G>A	cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			245			245	43.261207	KEEP	14	9	-1	56	52	14	9	-1	53.066853	56	52	0.186916	1	0	0	0	0	1	0	0	0	--	--		0	A			MATK_uc002lyv.2_Missense_Mutation_p.S219L|MATK_uc002lyu.2_Missense_Mutation_p.S177L|MATK_uc010dtq.2_Missense_Mutation_p.S218L	5	GBM-02-2470-TP	p.S218L	G	CTCCTCGGCCGACTTGGTCCC	NM_139355	NP_647612	3783147	P42679	MATK_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1053	-	A	A		Hepatocellular(1079;0.137)	Missense_Mutation	218						
MATK	4145		GRCh37	19	3779708	3779708	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000395045.2:c.833C>T	p.Thr278Met	p.T278M	ENST00000395045	NM_002378.3	278	aCg/aTg	0																																																																																																																																																																																																																																												
MATN4	8785	broad.mit.edu	GRCh37	20	43929967	43929967	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0749-01	TCGA-06-0749-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000537548.1:c.760T>C	p.Cys254Arg	p.C254R	ENST00000537548	NM_003833.4	254	Tgc/Cgc	0			1			G	C/R	uc002xnn.2	protein_coding					883/1869										0	c.(760-762)TGC>CGC			hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF16,PROSITE_patterns:PS01186,Pfam_domain:PF14670,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57184	matrilin 4 isoform 1 precursor				ENSP00000361840		10-Apr									COSM3405133,COSM3405134	10-Apr	.		ENST00000372754	Transcript				extracellular region	protein binding	ENSG00000124159	g.chr20:43929967A>G	6910			MODERATE		4.8	high	getma.org/?cm=msa&ty=f&p=MATN4_HUMAN&rb=257&re=295&var=C295R	getma.org/pdb.php?prot=MATN4_HUMAN&from=257&to=295&var=C295R	getma.org/?cm=var&var=hg19,20,43929967,A,G&fts=all	C295R	--	--	1																																OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	MATN4_uc002xno.2_Intron|MATN4_uc002xnp.2_Intron|MATN4_uc010zwr.1_Missense_Mutation_p.C202R|MATN4_uc002xnr.1_Missense_Mutation_p.C254R	1,1			probably_damaging(0.998)	p.C254R	NM_003833	NP_003824			1,1	MATN4_HUMAN	MATN4	HGNC	O95460	MATN4_HUMAN					4	947	-		Myeloproliferative disorder(115;0.0122)	UPI00004708AD	295					SNV	MATN4,missense_variant,p.Cys254Arg,ENST00000537548,NM_003833.4;MATN4,missense_variant,p.Cys254Arg,ENST00000342716,;MATN4,missense_variant,p.Cys295Arg,ENST00000372754,;MATN4,missense_variant,p.Cys254Arg,ENST00000372756,;MATN4,missense_variant,p.Cys105Arg,ENST00000372751,;MATN4,intron_variant,,ENST00000360607,NM_030590.3;MATN4,intron_variant,,ENST00000353917,NM_030592.3;	uc002xnn.2	c.760T>C	892/2200	4	4			c.760T>C						20	SNP	c.(760-762)TGC>CGC	22	22				0	Broad	matrilin 4 isoform 1 precursor			43929967		0.587	ENSG00000124159	9163	g.chr20:43929967A>G		extracellular region	protein binding							-49.062597	KEEP	6	0	-1	175	85	6	0	-1	11.857307	175	85	0.024691	1	0	0	0	0	1	0	0	0	--	--		0	G	OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	MATN4_uc002xno.2_Intron|MATN4_uc002xnp.2_Intron|MATN4_uc010zwr.1_Missense_Mutation_p.C202R|MATN4_uc002xnr.1_Missense_Mutation_p.C254R	69	GBM-06-0749-TP	p.C254R	A	TCACCCCTGCAGCTCCTCTGG	NM_003833	NP_003824	43929967	O95460	MATN4_HUMAN	0			4	947	-	G	G		Myeloproliferative disorder(115;0.0122)	Missense_Mutation	295						
MATN4	0	broad.mit.edu	GRCh37	20	43927042	43927042	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-27-1835-01	TCGA-27-1835-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372754.1:c.1317T>A	p.Pro439=	p.P439=	ENST00000372754		439	ccT/ccA	0			1			T	P	uc002xnn.2	protein_coding					1317/1869										0	c.(1192-1194)CCT>CCA			PROSITE_profiles:PS50234,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF16,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	matrilin 4 isoform 1 precursor				ENSP00000361840		10-Jul									COSM2157252,COSM3405131	10-Jul	.		ENST00000372754	Transcript				extracellular region	protein binding	ENSG00000124159	g.chr20:43927042A>T	6910			LOW								--	--	1																																		MATN4_uc002xno.2_Silent_p.P357P|MATN4_uc002xnp.2_Silent_p.P316P|MATN4_uc010zwr.1_Silent_p.P346P|MATN4_uc002xnr.1_Silent_p.P398P	1,1				p.P398P	NM_003833	NP_003824			1,1	MATN4_HUMAN	MATN4	HGNC	O95460	MATN4_HUMAN					7	1381	-		Myeloproliferative disorder(115;0.0122)	UPI00004708AD	439			VWFA 2.		SNV	MATN4,synonymous_variant,p.=,ENST00000537548,NM_003833.4;MATN4,synonymous_variant,p.=,ENST00000342716,;MATN4,synonymous_variant,p.=,ENST00000372754,;MATN4,synonymous_variant,p.=,ENST00000360607,NM_030590.3;MATN4,synonymous_variant,p.=,ENST00000372756,;MATN4,synonymous_variant,p.=,ENST00000353917,NM_030592.3;MATN4,synonymous_variant,p.=,ENST00000372751,;	uc002xnn.2	c.1194T>A	1326/2200	2	2			c.1194T>A						20	SNP	c.(1192-1194)CCT>CCA	24	24				0	Broad	matrilin 4 isoform 1 precursor			43927042		0.662	ENSG00000124159	9163	g.chr20:43927042A>T		extracellular region	protein binding							52.020316	KEEP	10	14	-1	24	26	10	14	-1	52.950444	24	26	0.358491	1	0	0	0	0	0	0	1	0	--	--		0	T			MATN4_uc002xno.2_Silent_p.P357P|MATN4_uc002xnp.2_Silent_p.P316P|MATN4_uc010zwr.1_Silent_p.P346P|MATN4_uc002xnr.1_Silent_p.P398P	194	GBM-27-1835-TP	p.P398P	A	AGCGACCCAGAGGGAACTCGG	NM_003833	NP_003824	43927042	O95460	MATN4_HUMAN	0			7	1381	-	T	T		Myeloproliferative disorder(115;0.0122)	Silent	439			VWFA 2.			
MATN4	0	broad.mit.edu	GRCh37	20	43927050	43927050	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01	TCGA-28-5204-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372754.1:c.1309G>A	p.Glu437Lys	p.E437K	ENST00000372754		437	Gag/Aag	0			1			T	E/K	uc002xnn.2	protein_coding					1309/1869										0	c.(1186-1188)GAG>AAG			PROSITE_profiles:PS50234,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF16,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300,Prints_domain:PR00453	matrilin 4 isoform 1 precursor				ENSP00000361840		10-Jul	3.30E-05					6.10E-05			rs755669114,COSM1681707,COSM3405132	10-Jul	.		ENST00000372754	Transcript				extracellular region	protein binding	ENSG00000124159	g.chr20:43927050C>T	6910			MODERATE		3.49	medium	getma.org/?cm=msa&ty=f&p=MATN4_HUMAN&rb=386&re=561&var=E437K	getma.org/pdb.php?prot=MATN4_HUMAN&from=386&to=561&var=E437K	getma.org/?cm=var&var=hg19,20,43927050,C,T&fts=all	E437K	--	--	1																																		MATN4_uc002xno.2_Missense_Mutation_p.E355K|MATN4_uc002xnp.2_Missense_Mutation_p.E314K|MATN4_uc010zwr.1_Missense_Mutation_p.E344K|MATN4_uc002xnr.1_Missense_Mutation_p.E396K	0,1,1			probably_damaging(0.998)	p.E396K	NM_003833	NP_003824			0,1,1	MATN4_HUMAN	MATN4	HGNC	O95460	MATN4_HUMAN					7	1373	-		Myeloproliferative disorder(115;0.0122)	UPI00004708AD	437			VWFA 2.		SNV	MATN4,missense_variant,p.Glu396Lys,ENST00000537548,NM_003833.4;MATN4,missense_variant,p.Glu396Lys,ENST00000342716,;MATN4,missense_variant,p.Glu437Lys,ENST00000372754,;MATN4,missense_variant,p.Glu355Lys,ENST00000360607,NM_030590.3;MATN4,missense_variant,p.Glu396Lys,ENST00000372756,;MATN4,missense_variant,p.Glu314Lys,ENST00000353917,NM_030592.3;MATN4,missense_variant,p.Glu247Lys,ENST00000372751,;	uc002xnn.2	c.1186G>A	1318/2200	1	1			c.1186G>A						20	SNP	c.(1186-1188)GAG>AAG	14	14				0	Broad	matrilin 4 isoform 1 precursor			43927050		0.657	ENSG00000124159	9163	g.chr20:43927050C>T		extracellular region	protein binding							93.15572	KEEP	17	26	-1	20	26	17	26	-1	93.165711	20	26	0.486111	1	0	0	0	0	1	0	0	0	--	--		0	T			MATN4_uc002xno.2_Missense_Mutation_p.E355K|MATN4_uc002xnp.2_Missense_Mutation_p.E314K|MATN4_uc010zwr.1_Missense_Mutation_p.E344K|MATN4_uc002xnr.1_Missense_Mutation_p.E396K	215	GBM-28-5204-TP	p.E396K	C	AGAGGGAACTCGGTGCGCACG	NM_003833	NP_003824	43927050	O95460	MATN4_HUMAN	0			7	1373	-	T	T		Myeloproliferative disorder(115;0.0122)	Missense_Mutation	437			VWFA 2.			
MATN4	0	broad.mit.edu	GRCh37	20	43933304	43933304	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372754.1:c.207C>T	p.Asn69=	p.N69=	ENST00000372754		69	aaC/aaT	0			1			A	N	uc002xnn.2	protein_coding					207/1869										0	c.(205-207)AAC>AAT			PROSITE_profiles:PS50234,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF16,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	matrilin 4 isoform 1 precursor				ENSP00000361840		10-Feb									COSM3405138,COSM3405139	10-Feb	.		ENST00000372754	Transcript				extracellular region	protein binding	ENSG00000124159	g.chr20:43933304G>A	6910			LOW								--	--	1																																		MATN4_uc002xno.2_Silent_p.N69N|MATN4_uc002xnp.2_Silent_p.N69N|MATN4_uc010zwr.1_Silent_p.N17N|MATN4_uc002xnr.1_Silent_p.N69N|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank	1,1				p.N69N	NM_003833	NP_003824			1,1	MATN4_HUMAN	MATN4	HGNC	O95460	MATN4_HUMAN					3	394	-		Myeloproliferative disorder(115;0.0122)	UPI00004708AD	69			VWFA 1.		SNV	MATN4,synonymous_variant,p.=,ENST00000537548,NM_003833.4;MATN4,synonymous_variant,p.=,ENST00000342716,;MATN4,synonymous_variant,p.=,ENST00000372754,;MATN4,synonymous_variant,p.=,ENST00000360607,NM_030590.3;MATN4,synonymous_variant,p.=,ENST00000372756,;MATN4,synonymous_variant,p.=,ENST00000353917,NM_030592.3;MATN4,intron_variant,,ENST00000372751,;RBPJL,upstream_gene_variant,,ENST00000343694,NM_001281449.1,NM_014276.3,NM_001281448.1;RBPJL,upstream_gene_variant,,ENST00000372741,;RBPJL,upstream_gene_variant,,ENST00000372743,;	uc002xnn.2	c.207C>T	216/2200	1	1			c.207C>T						20	SNP	c.(205-207)AAC>AAT	53	53				0	Broad	matrilin 4 isoform 1 precursor			43933304		0.642	ENSG00000124159	9163	g.chr20:43933304G>A		extracellular region	protein binding							36.621218	KEEP	10	10	-1	56	49	10	10	-1	47.108714	56	49	0.181818	1	0	0	0	0	0	0	1	0	--	--		0	A			MATN4_uc002xno.2_Silent_p.N69N|MATN4_uc002xnp.2_Silent_p.N69N|MATN4_uc010zwr.1_Silent_p.N17N|MATN4_uc002xnr.1_Silent_p.N69N|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank	220	GBM-28-5213-TP	p.N69N	G	CGCGCGTGGCGTTGGGACCCA	NM_003833	NP_003824	43933304	O95460	MATN4_HUMAN	0			3	394	-	A	A		Myeloproliferative disorder(115;0.0122)	Silent	69			VWFA 1.			
MATN4	0	broad.mit.edu	GRCh37	20	43933173	43933173	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372754.1:c.338C>T	p.Thr113Met	p.T113M	ENST00000372754		113	aCg/aTg	0			1			A	T/M	uc002xnn.2	protein_coding					338/1869										0	c.(337-339)ACG>ATG			PROSITE_profiles:PS50234,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF16,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	matrilin 4 isoform 1 precursor				ENSP00000361840		10-Feb									COSM3405136,COSM3405137	10-Feb	.		ENST00000372754	Transcript				extracellular region	protein binding	ENSG00000124159	g.chr20:43933173G>A	6910			MODERATE		3.775	high	getma.org/?cm=msa&ty=f&p=MATN4_HUMAN&rb=34&re=213&var=T113M	getma.org/pdb.php?prot=MATN4_HUMAN&from=34&to=213&var=T113M	getma.org/?cm=var&var=hg19,20,43933173,G,A&fts=all	T113M	--	--	1																																		MATN4_uc002xno.2_Missense_Mutation_p.T113M|MATN4_uc002xnp.2_Missense_Mutation_p.T113M|MATN4_uc010zwr.1_Missense_Mutation_p.T61M|MATN4_uc002xnr.1_Missense_Mutation_p.T113M|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank	1,1			probably_damaging(1)	p.T113M	NM_003833	NP_003824			1,1	MATN4_HUMAN	MATN4	HGNC	O95460	MATN4_HUMAN					3	525	-		Myeloproliferative disorder(115;0.0122)	UPI00004708AD	113			VWFA 1.		SNV	MATN4,missense_variant,p.Thr113Met,ENST00000537548,NM_003833.4;MATN4,missense_variant,p.Thr113Met,ENST00000342716,;MATN4,missense_variant,p.Thr113Met,ENST00000372754,;MATN4,missense_variant,p.Thr113Met,ENST00000360607,NM_030590.3;MATN4,missense_variant,p.Thr113Met,ENST00000372756,;MATN4,missense_variant,p.Thr113Met,ENST00000353917,NM_030592.3;MATN4,intron_variant,,ENST00000372751,;RBPJL,upstream_gene_variant,,ENST00000343694,NM_001281449.1,NM_014276.3,NM_001281448.1;RBPJL,upstream_gene_variant,,ENST00000372741,;RBPJL,upstream_gene_variant,,ENST00000372743,;	uc002xnn.2	c.338C>T	347/2200	1	1			c.338C>T						20	SNP	c.(337-339)ACG>ATG	56	56				0	Broad	matrilin 4 isoform 1 precursor			43933173		0.667	ENSG00000124159	9163	g.chr20:43933173G>A		extracellular region	protein binding							37.967032	KEEP	5	8	-1	11	15	5	8	-1	38.577454	11	15	0.361111	1	0	0	0	0	1	0	0	0	--	--		0	A			MATN4_uc002xno.2_Missense_Mutation_p.T113M|MATN4_uc002xnp.2_Missense_Mutation_p.T113M|MATN4_uc010zwr.1_Missense_Mutation_p.T61M|MATN4_uc002xnr.1_Missense_Mutation_p.T113M|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank	271	GBM-76-4932-TP	p.T113M	G	TGCCAGTCCCGTCATGGTGCC	NM_003833	NP_003824	43933173	O95460	MATN4_HUMAN	0			3	525	-	A	A		Myeloproliferative disorder(115;0.0122)	Missense_Mutation	113			VWFA 1.			
MATN4	0	broad.mit.edu	GRCh37	20	43926658	43926658	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6191-01	TCGA-76-6191-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372754.1:c.1602C>T	p.Arg534=	p.R534=	ENST00000372754		534	cgC/cgT	0			1			A	R	uc002xnn.2	protein_coding					1602/1869										0	c.(1477-1479)CGC>CGT			PROSITE_profiles:PS50234,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF16,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300	matrilin 4 isoform 1 precursor				ENSP00000361840		10-Aug	8.24E-06					1.52E-05			rs757493559	10-Aug	.		ENST00000372754	Transcript				extracellular region	protein binding	ENSG00000124159	g.chr20:43926658G>A	6910			LOW								--	--	1																																		MATN4_uc002xno.2_Silent_p.R452R|MATN4_uc002xnp.2_Silent_p.R411R|MATN4_uc010zwr.1_Silent_p.R441R|MATN4_uc002xnr.1_Silent_p.R493R					p.R493R	NM_003833	NP_003824				MATN4_HUMAN	MATN4	HGNC	O95460	MATN4_HUMAN					8	1666	-		Myeloproliferative disorder(115;0.0122)	UPI00004708AD	534			VWFA 2.		SNV	MATN4,synonymous_variant,p.=,ENST00000537548,NM_003833.4;MATN4,synonymous_variant,p.=,ENST00000342716,;MATN4,synonymous_variant,p.=,ENST00000372754,;MATN4,synonymous_variant,p.=,ENST00000360607,NM_030590.3;MATN4,synonymous_variant,p.=,ENST00000372756,;MATN4,synonymous_variant,p.=,ENST00000353917,NM_030592.3;MATN4,synonymous_variant,p.=,ENST00000372751,;	uc002xnn.2	c.1479C>T	1611/2200	2	2			c.1479C>T						20	SNP	c.(1477-1479)CGC>CGT	21	21				0	Broad	matrilin 4 isoform 1 precursor			43926658		0.672	ENSG00000124159	9163	g.chr20:43926658G>A		extracellular region	protein binding							50.234711	KEEP	13	7	-1	13	13	13	7	-1	50.408124	13	13	0.431818	1	0	0	0	0	0	0	1	0	--	--		0	A			MATN4_uc002xno.2_Silent_p.R452R|MATN4_uc002xnp.2_Silent_p.R411R|MATN4_uc010zwr.1_Silent_p.R441R|MATN4_uc002xnr.1_Silent_p.R493R	274	GBM-76-6191-TP	p.R493R	G	AGGCGATCTCGCGCAGCTCCG	NM_003833	NP_003824	43926658	O95460	MATN4_HUMAN	0			8	1666	-	A	A		Myeloproliferative disorder(115;0.0122)	Silent	534			VWFA 2.			
MATN4	8785	broad.mit.edu	GRCh37	20	43936814	43936814	+	splice_donor_variant	Splice_Site	SNP	C	C	A			TCGA-14-0789-01	TCGA-14-0789-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000537548.1:c.-35+1G>T		p.X12_splice	ENST00000537548	NM_003833.4	12		0			1			A		uc002xns.2	protein_coding					-/1869									ovary(1)	1	c.(52-54)CAC>CAA	2583			recombining binding protein L				ENSP00000361840											COSM3405140		.		ENST00000372754	Transcript			signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000124159	g.chr20:43936814C>A	6910			MODIFIER		0.695	neutral	getma.org/?cm=msa&ty=f&p=RBPJL_HUMAN&rb=1&re=67&var=H18Q	NA	getma.org/?cm=var&var=hg19,20,43936814,C,A&fts=all	H18Q	--	--	1																																		MATN4_uc002xnn.2_Intron|MATN4_uc002xno.2_Intron|MATN4_uc002xnp.2_Intron|MATN4_uc010zwr.1_5'Flank|MATN4_uc002xnr.1_Splice_Site|RBPJL_uc002xnt.2_Missense_Mutation_p.H18Q	1				p.H18Q	NM_014276	NP_055091			1	MATN4_HUMAN	MATN4	HGNC	Q9UBG7	RBPJL_HUMAN					2	126	+		Myeloproliferative disorder(115;0.0122)	UPI00004708AD	18					SNV	MATN4,splice_donor_variant,,ENST00000537548,NM_003833.4;MATN4,splice_donor_variant,,ENST00000342716,;MATN4,splice_donor_variant,,ENST00000360607,NM_030590.3;MATN4,splice_donor_variant,,ENST00000353917,NM_030592.3;MATN4,splice_donor_variant,,ENST00000372751,;RBPJL,missense_variant,p.His18Gln,ENST00000343694,NM_001281449.1,NM_014276.3,NM_001281448.1;RBPJL,missense_variant,p.His18Gln,ENST00000372741,;RBPJL,missense_variant,p.His18Gln,ENST00000372743,;MATN4,upstream_gene_variant,,ENST00000372754,;MATN4,upstream_gene_variant,,ENST00000372756,;	uc002xns.2	c.54C>A	-/2200	1	1			c.54C>A						20	SNP	c.(52-54)CAC>CAA	58	58			ovary(1)	1	Broad	recombining binding protein L			43936814		0.627	ENSG00000124159	12951	g.chr20:43936814C>A	signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity							84.477065	KEEP	22	16	0.421052632	59	71	22	16	0.421052632	94.431778	59	71	0.233766	1	0	0	0	0	1	0	0	0	--	--		0	A			MATN4_uc002xnn.2_Intron|MATN4_uc002xno.2_Intron|MATN4_uc002xnp.2_Intron|MATN4_uc010zwr.1_5'Flank|MATN4_uc002xnr.1_Splice_Site|RBPJL_uc002xnt.2_Missense_Mutation_p.H18Q	136	GBM-14-0789-TP	p.H18Q	C	CTTTGACTCACCTGAGCCTGC	NM_014276	NP_055091	43936814	Q9UBG7	RBPJL_HUMAN	0			2	126	+	A	A		Myeloproliferative disorder(115;0.0122)	Missense_Mutation	18						
MATR3	9782	broad.mit.edu	GRCh37	5	138657666	138657666	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394805.3:c.1682G>A	p.Gly561Glu	p.G561E	ENST00000394805	NM_001194955.1	561	gGg/gAg	0			1			A	G/E	uc003ldu.2	protein_coding	YES	CCDS4210.1			1682/2544									ovary(1)	1	c.(1681-1683)GGG>GAG			Gene3D:3.30.70.330,Pfam_domain:PF13893,PROSITE_profiles:PS50102,hmmpanther:PTHR15592,SMART_domains:SM00360,Superfamily_domains:SSF54928	matrin 3				ENSP00000378284		15-Oct									COSM2150441	15-Oct	.		ENST00000394805	Transcript	1			nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	ENSG00000015479	g.chr5:138657666G>A	6912			MODERATE		2.33	medium	getma.org/?cm=msa&ty=f&p=MATR3_HUMAN&rb=513&re=569&var=G561E	getma.org/pdb.php?prot=MATR3_HUMAN&from=513&to=569&var=G561E	getma.org/?cm=var&var=hg19,5,138657666,G,A&fts=all	G561E	--	--	1																																		MATR3_uc010jfb.2_Missense_Mutation_p.G561E|MATR3_uc003ldt.2_Missense_Mutation_p.G223E|MATR3_uc003ldw.2_Missense_Mutation_p.G561E|MATR3_uc003ldx.2_Missense_Mutation_p.G561E|MATR3_uc010jfc.2_Missense_Mutation_p.G561E|MATR3_uc003ldy.2_Missense_Mutation_p.G238E|MATR3_uc011czb.1_Missense_Mutation_p.G273E|MATR3_uc003ldz.2_Missense_Mutation_p.G561E|MATR3_uc003lea.2_Missense_Mutation_p.G561E|MATR3_uc003leb.2_Missense_Mutation_p.G223E|MATR3_uc003lec.2_Missense_Mutation_p.G238E	1	1		probably_damaging(0.999)	p.G561E	NM_199189	NP_954659		deleterious(0)	1	MATR3_HUMAN	MATR3	HGNC	P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Q9H4N1_HUMAN,D6REK4_HUMAN,D6RE02_HUMAN,D6RCM3_HUMAN,D6RBS2_HUMAN,D6RBK5_HUMAN,D6RBI2_HUMAN,D6RB45_HUMAN,D6RAY2_HUMAN,D6RAM9_HUMAN,D6R9F3_HUMAN,D6R991_HUMAN,D6R8Z5_HUMAN,B3KM87_HUMAN		13	2109	+			UPI0000000DEE	561			RRM 2.		SNV	MATR3,missense_variant,p.Gly561Glu,ENST00000394800,;MATR3,missense_variant,p.Gly561Glu,ENST00000394805,NM_001194955.1,NM_018834.5;MATR3,missense_variant,p.Gly561Glu,ENST00000502929,;MATR3,missense_variant,p.Gly561Glu,ENST00000361059,NM_199189.2;MATR3,missense_variant,p.Gly561Glu,ENST00000509990,NM_001194954.1;MATR3,missense_variant,p.Gly561Glu,ENST00000510056,;MATR3,missense_variant,p.Gly223Glu,ENST00000502499,;MATR3,missense_variant,p.Gly273Glu,ENST00000503811,NM_001194956.1;MATR3,missense_variant,p.Gly223Glu,ENST00000504203,;MATR3,missense_variant,p.Gly321Glu,ENST00000515833,;MATR3,downstream_gene_variant,,ENST00000504045,;MATR3,downstream_gene_variant,,ENST00000509644,;MATR3,downstream_gene_variant,,ENST00000512876,;MATR3,downstream_gene_variant,,ENST00000514528,;MATR3,downstream_gene_variant,,ENST00000511249,;MATR3,downstream_gene_variant,,ENST00000513678,;MATR3,downstream_gene_variant,,ENST00000504311,;MATR3,non_coding_transcript_exon_variant,,ENST00000511978,;MATR3,non_coding_transcript_exon_variant,,ENST00000509918,;MATR3,non_coding_transcript_exon_variant,,ENST00000505625,;MATR3,non_coding_transcript_exon_variant,,ENST00000504643,;MATR3,non_coding_transcript_exon_variant,,ENST00000502422,;MATR3,non_coding_transcript_exon_variant,,ENST00000502944,;MATR3,upstream_gene_variant,,ENST00000512040,;MATR3,downstream_gene_variant,,ENST00000511333,;	uc003ldu.2	c.1682G>A	2017/4843	2	2			c.1682G>A						5	SNP	c.(1681-1683)GGG>GAG	39	39			ovary(1)	1	Broad	matrin 3			138657666		0.348	ENSG00000015479	9164	g.chr5:138657666G>A		nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding							159.40381	KEEP	28	34	-1	78	87	28	34	-1	167.645107	78	87	0.284264	1	0	0	0	0	1	0	0	0	--	--		0	A			MATR3_uc010jfb.2_Missense_Mutation_p.G561E|MATR3_uc003ldt.2_Missense_Mutation_p.G223E|MATR3_uc003ldw.2_Missense_Mutation_p.G561E|MATR3_uc003ldx.2_Missense_Mutation_p.G561E|MATR3_uc010jfc.2_Missense_Mutation_p.G561E|MATR3_uc003ldy.2_Missense_Mutation_p.G238E|MATR3_uc011czb.1_Missense_Mutation_p.G273E|MATR3_uc003ldz.2_Missense_Mutation_p.G561E|MATR3_uc003lea.2_Missense_Mutation_p.G561E|MATR3_uc003leb.2_Missense_Mutation_p.G223E|MATR3_uc003lec.2_Missense_Mutation_p.G238E	39	GBM-06-0184-TP	p.G561E	G	TGGTTTCAGGGGAGATGTGTG	NM_199189	NP_954659	138657666	P43243	MATR3_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		13	2109	+	A	A			Missense_Mutation	561			RRM 2.			
MAU2	0	broad.mit.edu	GRCh37	19	19459728	19459728	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2619-01	TCGA-19-2619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262815.8:c.1339G>A	p.Asp447Asn	p.D447N	ENST00000262815		447	Gac/Aac	0			1			A	D/N	uc002nmk.3	protein_coding					1339/1842										0	c.(1339-1341)GAC>AAC			Gene3D:1.25.40.10,Pfam_domain:PF10345,hmmpanther:PTHR21394,Superfamily_domains:SSF48452	hypothetical protein LOC23383 precursor				ENSP00000262815		14/19									COSM2156132	14/19	.		ENST00000262815	Transcript			cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding	ENSG00000129933	g.chr19:19459728G>A	29140			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=SCC4_HUMAN&rb=23&re=570&var=D447N	NA	getma.org/?cm=var&var=hg19,19,19459728,G,A&fts=all	D447N	--	--	1																																		KIAA0892_uc002nml.3_Missense_Mutation_p.D52N|KIAA0892_uc010ecd.2_Missense_Mutation_p.D52N|KIAA0892_uc010ece.2_Missense_Mutation_p.D23N	1			possibly_damaging(0.623)	p.D447N	NM_015329	NP_056144		tolerated(0.1)	1		MAU2	HGNC	Q9Y6X3	SCC4_HUMAN			G8JL95_HUMAN		14	1378	+			UPI00020653CC	447					SNV	MAU2,missense_variant,p.Asp447Asn,ENST00000262815,;MAU2,missense_variant,p.Asp447Asn,ENST00000392313,NM_015329.3;MAU2,downstream_gene_variant,,ENST00000609060,;MAU2,downstream_gene_variant,,ENST00000585823,;MAU2,non_coding_transcript_exon_variant,,ENST00000262816,;MAU2,non_coding_transcript_exon_variant,,ENST00000587709,;MAU2,non_coding_transcript_exon_variant,,ENST00000587938,;MAU2,non_coding_transcript_exon_variant,,ENST00000587638,;MAU2,non_coding_transcript_exon_variant,,ENST00000589947,;MAU2,non_coding_transcript_exon_variant,,ENST00000587362,;MAU2,non_coding_transcript_exon_variant,,ENST00000590882,;MAU2,upstream_gene_variant,,ENST00000499453,;MAU2,downstream_gene_variant,,ENST00000590837,;	uc002nmk.3	c.1339G>A	1378/4853	2	2			c.1339G>A						19	SNP	c.(1339-1341)GAC>AAC	35	35				0	Broad	hypothetical protein LOC23383 precursor			19459728		0.617	ENSG00000129933	8057	g.chr19:19459728G>A	cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding							59.267887	KEEP	15	14	-1	34	51	15	14	-1	65.426249	34	51	0.24	1	0	0	0	0	1	0	0	0	--	--		0	A			KIAA0892_uc002nml.3_Missense_Mutation_p.D52N|KIAA0892_uc010ecd.2_Missense_Mutation_p.D52N|KIAA0892_uc010ece.2_Missense_Mutation_p.D23N	161	GBM-19-2619-TP	p.D447N	G	GATCAACCCGGACCACAGCTT	NM_015329	NP_056144	19459728	Q9Y6X3	SCC4_HUMAN	0			14	1378	+	A	A			Missense_Mutation	447						
MAX	4149	broad.mit.edu	GRCh37	14	65543330	65543330	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01	TCGA-06-0743-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358664.4:c.347C>T	p.Pro116Leu	p.P116L	ENST00000358664	NM_002382.4	116	cCc/cTc	0			1			A	P/L	uc001xif.1	protein_coding	YES	CCDS9771.1			347/483									lung(1)	1	c.(346-348)CCC>CTC			hmmpanther:PTHR10328	MAX protein isoform a				ENSP00000351490		5-May									COSM3401415	5-May	.		ENST00000358664	Transcript	1		transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	ENSG00000125952	g.chr14:65543330G>A	6913			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=MAX_HUMAN&rb=76&re=158&var=P116L	NA	getma.org/?cm=var&var=hg19,14,65543330,G,A&fts=all	P116L	--	--	1																																		MAX_uc001xic.1_Intron|MAX_uc001xie.1_3'UTR|MAX_uc010aql.1_Missense_Mutation_p.P30S|MAX_uc001xig.1_Missense_Mutation_p.P107L|MAX_uc001xih.1_RNA	1	1		benign(0)	p.P116L	NM_002382	NP_002373		tolerated_low_confidence(0.2)	1	MAX_HUMAN	MAX	HGNC	P61244	MAX_HUMAN		all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)	G3V570_HUMAN		5	517	-			UPI0000000C63	116					SNV	MAX,missense_variant,p.Pro107Leu,ENST00000358402,NM_145112.2;MAX,missense_variant,p.Pro30Ser,ENST00000555932,;MAX,missense_variant,p.Pro116Leu,ENST00000358664,NM_002382.4;MAX,missense_variant,p.Pro80Leu,ENST00000555419,;MAX,missense_variant,p.Pro53Leu,ENST00000557277,;MAX,missense_variant,p.Pro43Leu,ENST00000556892,;MAX,3_prime_UTR_variant,,ENST00000284165,NM_145113.2;MAX,intron_variant,,ENST00000341653,NM_197957.3;MAX,downstream_gene_variant,,ENST00000556979,;MAX,downstream_gene_variant,,ENST00000556443,;MAX,downstream_gene_variant,,ENST00000555667,;MAX,downstream_gene_variant,,ENST00000557746,;MAX,3_prime_UTR_variant,,ENST00000394606,;MAX,3_prime_UTR_variant,,ENST00000553928,;MAX,downstream_gene_variant,,ENST00000553951,;	uc001xif.1	c.347C>T	478/1546	1	1			c.347C>T						14	SNP	c.(346-348)CCC>CTC	60	60			lung(1)	1	Broad	MAX protein isoform a			65543330		0.587	ENSG00000125952	9166	g.chr14:65543330G>A	transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			99			99	245.041938	KEEP	41	47	-1	66	110	41	47	-1	250.375124	66	110	0.341667	1	0	0	0	0	1	0	0	0	--	--		0	A			MAX_uc001xic.1_Intron|MAX_uc001xie.1_3'UTR|MAX_uc010aql.1_Missense_Mutation_p.P30S|MAX_uc001xig.1_Missense_Mutation_p.P107L|MAX_uc001xih.1_RNA	65	GBM-06-0743-TP	p.P116L	G	GTCTGAGGAGGGGTAGTTGGT	NM_002382	NP_002373	65543330	P61244	MAX_HUMAN	0		all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)	5	517	-	A	A			Missense_Mutation	116						
MAX	4149		GRCh37	14	65569050	65569050	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000358664.4:c.8A>T	p.Asp3Val	p.D3V	ENST00000358664	NM_002382.4	3	gAt/gTt	0																																																																																																																																																																																																																																												
MB21D1	0	broad.mit.edu	GRCh37	6	74149963	74149963	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-14-4157-01	TCGA-14-4157-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370315.3:c.1083C>A	p.Pro361=	p.P361=	ENST00000370315	NM_138441.2	361	ccC/ccA	0			1			T	P	uc003pgx.1	protein_coding	YES	CCDS4978.1			1083/1569										0	c.(1081-1083)CCC>CCA			Pfam_domain:PF03281,hmmpanther:PTHR10656,hmmpanther:PTHR10656:SF35	hypothetical protein LOC115004				ENSP00000359339		5-Mar									COSM3411272	5-Mar	.		ENST00000370315	Transcript						ENSG00000164430	g.chr6:74149963G>T	21367			LOW								--	--	1																																			1	1			p.P361P	NM_138441	NP_612450			1	CGAS_HUMAN	MB21D1	HGNC	Q8N884	M21D1_HUMAN			A6PW79_HUMAN		3	1222	-			UPI00001AEC2D	361					SNV	MB21D1,synonymous_variant,p.=,ENST00000370315,NM_138441.2;MB21D1,synonymous_variant,p.=,ENST00000370318,;MB21D1,non_coding_transcript_exon_variant,,ENST00000459924,;	uc003pgx.1	c.1083C>A	1178/3182	2	2			c.1083C>A						6	SNP	c.(1081-1083)CCC>CCA	29	29				0	Broad	hypothetical protein LOC115004			74149963		0.383	ENSG00000164430	2289	g.chr6:74149963G>T										-24.12163	KEEP	2	2	0.5	64	69	2	2	0.5	7.259948	64	69	0.030769	1	0	0	0	0	0	0	1	0	--	--		0	T				152	GBM-14-4157-TP	p.P361P	G	TTGCATGCTTGGGTACAAGGT	NM_138441	NP_612450	74149963	Q8N884	M21D1_HUMAN	0			3	1222	-	T	T			Silent	361						
MBD1	4152	broad.mit.edu	GRCh37	18	47803460	47803460	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T			TCGA-06-0190-01	TCGA-06-0190-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000590208.1:c.225G>A		p.X75_splice	ENST00000590208	NM_001204136.1	75	aaG/aaA	0			1			T	K	uc010dow.1	protein_coding		CCDS11943.1			225/1818									ovary(1)|central_nervous_system(1)	2	c.(223-225)AAG>AAA			hmmpanther:PTHR12396:SF4,hmmpanther:PTHR12396,Gene3D:3.30.890.10,SMART_domains:SM00391,Superfamily_domains:SSF54171	methyl-CpG binding domain protein 1 isoform 1				ENSP00000269468		17-Mar									COSM3403551,COSM3403552,COSM3403553,COSM3403550	17-Mar	.		ENST00000269468	Transcript			negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	ENSG00000141644	g.chr18:47803460C>T	6916			LOW								--	--	1																																		MBD1_uc002lef.2_5'Flank|MBD1_uc002leg.2_Silent_p.K75K|MBD1_uc010xdi.1_Silent_p.K101K|MBD1_uc002leh.3_Silent_p.K75K|MBD1_uc002len.2_Silent_p.K75K|MBD1_uc002lei.3_Silent_p.K75K|MBD1_uc002lej.3_Silent_p.K75K|MBD1_uc002lek.3_Silent_p.K75K|MBD1_uc002lel.3_Silent_p.K75K|MBD1_uc002lem.3_Silent_p.K75K|MBD1_uc010xdj.1_Silent_p.K75K|MBD1_uc010xdk.1_Silent_p.K75K|MBD1_uc010dox.1_Silent_p.K75K|MBD1_uc002leo.2_Silent_p.K75K	1,1,1,1				p.K75K	NM_015846	NP_056671			1,1,1,1	MBD1_HUMAN	MBD1	HGNC	Q9UIS9	MBD1_HUMAN					3	662	-			UPI000013D836	75					SNV	MBD1,splice_region_variant,p.=,ENST00000591416,;MBD1,splice_region_variant,p.=,ENST00000269468,NM_015846.3;MBD1,splice_region_variant,p.=,ENST00000347968,NM_015844.2;MBD1,splice_region_variant,p.=,ENST00000436910,;MBD1,splice_region_variant,p.=,ENST00000269471,NM_015845.3;MBD1,splice_region_variant,p.=,ENST00000339998,NM_001204142.1;MBD1,splice_region_variant,p.=,ENST00000349085,NM_002384.2;MBD1,splice_region_variant,p.=,ENST00000590208,NM_001204136.1;MBD1,splice_region_variant,p.=,ENST00000353909,NM_015847.3;MBD1,splice_region_variant,p.=,ENST00000585672,NM_001204141.1;MBD1,splice_region_variant,p.=,ENST00000457839,NM_001204137.1,NM_001204138.1;MBD1,splice_region_variant,p.=,ENST00000382948,NM_001204139.1;MBD1,splice_region_variant,p.=,ENST00000585595,;MBD1,splice_region_variant,p.=,ENST00000424334,;MBD1,splice_region_variant,p.=,ENST00000398495,NM_001204140.1;MBD1,splice_region_variant,p.=,ENST00000587605,NM_001204143.1;MBD1,splice_region_variant,p.=,ENST00000398493,;MBD1,splice_region_variant,p.=,ENST00000588937,;MBD1,splice_region_variant,p.=,ENST00000591535,NM_001204151.1;MBD1,splice_region_variant,p.=,ENST00000398488,;MBD1,upstream_gene_variant,,ENST00000592060,;MBD1,upstream_gene_variant,,ENST00000589541,;MBD1,upstream_gene_variant,,ENST00000589733,;MBD1,splice_region_variant,,ENST00000586118,;MBD1,splice_region_variant,,ENST00000590215,;MBD1,splice_region_variant,,ENST00000589867,;MBD1,upstream_gene_variant,,ENST00000586679,;MBD1,upstream_gene_variant,,ENST00000586884,;MBD1,upstream_gene_variant,,ENST00000591661,;MBD1,downstream_gene_variant,,ENST00000589758,;	uc010dow.1	c.225G>A	662/3259	2	2			c.225G>A						18	SNP	c.(223-225)AAG>AAA	44	44			ovary(1)|central_nervous_system(1)	2	Broad	methyl-CpG binding domain protein 1 isoform 1			47803460		0.537	ENSG00000141644	9169	g.chr18:47803460C>T	negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding							62.277291	KEEP	6	16	-1	25	24	6	16	-1	64.279881	25	24	0.3125	1	0	0	0	0	0	0	1	0	--	--		0	T			MBD1_uc002lef.2_5'Flank|MBD1_uc002leg.2_Silent_p.K75K|MBD1_uc010xdi.1_Silent_p.K101K|MBD1_uc002leh.3_Silent_p.K75K|MBD1_uc002len.2_Silent_p.K75K|MBD1_uc002lei.3_Silent_p.K75K|MBD1_uc002lej.3_Silent_p.K75K|MBD1_uc002lek.3_Silent_p.K75K|MBD1_uc002lel.3_Silent_p.K75K|MBD1_uc002lem.3_Silent_p.K75K|MBD1_uc010xdj.1_Silent_p.K75K|MBD1_uc010xdk.1_Silent_p.K75K|MBD1_uc010dox.1_Silent_p.K75K|MBD1_uc002leo.2_Silent_p.K75K	43	GBM-06-0190-TP	p.K75K	C	TGTGAAGTACCTTGGGGGCTG	NM_015846	NP_056671	47803460	Q9UIS9	MBD1_HUMAN	0			3	662	-	T	T			Silent	75						
MBD3	0	broad.mit.edu	GRCh37	19	1578435	1578435	+	synonymous_variant	Silent	SNP	C	C	T	rs150880184		TCGA-28-5219-01	TCGA-28-5219-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000434436.3:c.780G>A	p.Ala260=	p.A260=	ENST00000434436	NM_001281453.1	260	gcG/gcA	0	T:0.0002		1			T	A	uc002ltl.1	protein_coding		CCDS12072.1			780/876									ovary(1)|pancreas(1)|skin(1)	3	c.(778-780)GCG>GCA			hmmpanther:PTHR12396,hmmpanther:PTHR12396:SF5	methyl-CpG binding domain protein 3			T:0	ENSP00000412302		7-Jun	2.48E-05		0.000262						rs150880184,COSM3283979	7-Jun	.		ENST00000434436	Transcript			transcription, DNA-dependent	NuRD complex	DNA binding|protein binding	ENSG00000071655	g.chr19:1578435C>T	6918			LOW								--	--	1																																		uc002lti.1_5'Flank|MBD3_uc002ltj.2_Silent_p.A260A|MBD3_uc002ltk.2_Silent_p.A228A	0,1				p.A260A	NM_003926	NP_003917			0,1	MBD3_HUMAN	MBD3	HGNC	O95983	MBD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)	K7EIE8_HUMAN,B3KMA8_HUMAN		6	802	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	UPI000003166B	260					SNV	MBD3,synonymous_variant,p.=,ENST00000590550,;MBD3,synonymous_variant,p.=,ENST00000156825,;MBD3,synonymous_variant,p.=,ENST00000592012,;MBD3,synonymous_variant,p.=,ENST00000434436,NM_001281453.1,NM_001281454.1;AC005943.5,upstream_gene_variant,,ENST00000588960,;MBD3,downstream_gene_variant,,ENST00000585967,;MBD3,downstream_gene_variant,,ENST00000585903,;UQCR11,3_prime_UTR_variant,,ENST00000585937,;MBD3,non_coding_transcript_exon_variant,,ENST00000590830,;MBD3,downstream_gene_variant,,ENST00000592361,;MBD3,downstream_gene_variant,,ENST00000589064,;MBD3,downstream_gene_variant,,ENST00000589901,;AC005943.4,downstream_gene_variant,,ENST00000592406,;	uc002ltl.1	c.780G>A	910/2498	2	2			c.780G>A						19	SNP	c.(778-780)GCG>GCA	41	41			ovary(1)|pancreas(1)|skin(1)	3	Broad	methyl-CpG binding domain protein 3			1578435		0.557	ENSG00000071655	9171	g.chr19:1578435C>T	transcription, DNA-dependent	NuRD complex	DNA binding|protein binding							100.618379	KEEP	15	25	-1	26	36	15	25	-1	101.79208	26	36	0.383838	1	0	0	0	0	0	0	1	0	--	--		0	T			uc002lti.1_5'Flank|MBD3_uc002ltj.2_Silent_p.A260A|MBD3_uc002ltk.2_Silent_p.A228A	225	GBM-28-5219-TP	p.A260A	C	TGTCCAGCGGCGCCTCCCCGT	NM_003926	NP_003917	1578435	O95983	MBD3_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)	6	802	-	T	T		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	Silent	260						
MBD4	8930	broad.mit.edu	GRCh37	3	129155916	129155916	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000249910.1:c.571C>T	p.Pro191Ser	p.P191S	ENST00000249910		191	Ccg/Tcg	0			1			A	P/S	uc003emh.1	protein_coding	YES	CCDS3058.1			571/1743									ovary(1)|lung(1)	2	c.(571-573)CCG>TCG		BER_DNA_glycosylases	hmmpanther:PTHR15074,hmmpanther:PTHR15074:SF2,PIRSF_domain:PIRSF038005	methyl-CpG binding domain protein 4				ENSP00000249910		8-Mar									COSM3408215	8-Mar	.		ENST00000249910	Transcript			depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding	ENSG00000129071	g.chr3:129155916G>A	6919			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=MBD4_HUMAN&rb=152&re=351&var=P191S	NA	getma.org/?cm=var&var=hg19,3,129155916,G,A&fts=all	P191S	--	--	1																																		MBD4_uc003emi.1_Missense_Mutation_p.P191S|MBD4_uc003emj.1_Missense_Mutation_p.P191S|MBD4_uc003emk.1_Intron|MBD4_uc011bkw.1_Missense_Mutation_p.P191S	1	1		benign(0.001)	p.P191S	NM_003925	NP_003916		tolerated(0.49)	1	MBD4_HUMAN	MBD4	HGNC	O95243	MBD4_HUMAN					3	747	-			UPI0000073E6A	191					SNV	MBD4,missense_variant,p.Pro191Ser,ENST00000429544,NM_001276270.1,NM_003925.2,NM_001276272.1;MBD4,missense_variant,p.Pro191Ser,ENST00000249910,;MBD4,missense_variant,p.Pro191Ser,ENST00000507208,NM_001276271.1;MBD4,missense_variant,p.Pro191Ser,ENST00000503197,;MBD4,intron_variant,,ENST00000393278,NM_001276273.1;IFT122,upstream_gene_variant,,ENST00000296266,NM_052985.3;IFT122,upstream_gene_variant,,ENST00000431818,NM_001280545.1;IFT122,upstream_gene_variant,,ENST00000348417,NM_052989.2;IFT122,upstream_gene_variant,,ENST00000347300,NM_018262.3;IFT122,upstream_gene_variant,,ENST00000507564,NM_001280541.1;IFT122,upstream_gene_variant,,ENST00000349441,NM_052990.2;IFT122,upstream_gene_variant,,ENST00000440957,NM_001280546.1;IFT122,upstream_gene_variant,,ENST00000504021,;MBD4,non_coding_transcript_exon_variant,,ENST00000505883,;MBD4,intron_variant,,ENST00000509587,;MBD4,intron_variant,,ENST00000509828,;IFT122,upstream_gene_variant,,ENST00000512220,;MBD4,upstream_gene_variant,,ENST00000511009,;MBD4,upstream_gene_variant,,ENST00000515266,;	uc003emh.1	c.571C>T	747/2470	2	2			c.571C>T						3	SNP	c.(571-573)CCG>TCG	45	45			ovary(1)|lung(1)	2	Broad	methyl-CpG binding domain protein 4	BER_DNA_glycosylases		129155916		0.443	ENSG00000129071	9173	g.chr3:129155916G>A	depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding							-34.886178	KEEP	0	6	-1	104	81	0	6	-1	7.121664	104	81	0.023952	1	0	0	0	0	1	0	0	0	--	--		0	A			MBD4_uc003emi.1_Missense_Mutation_p.P191S|MBD4_uc003emj.1_Missense_Mutation_p.P191S|MBD4_uc003emk.1_Intron|MBD4_uc011bkw.1_Missense_Mutation_p.P191S	102	GBM-06-5858-TP	p.P191S	G	CTACTTGGCGGCATAAACACA	NM_003925	NP_003916	129155916	O95243	MBD4_HUMAN	0			3	747	-	A	A			Missense_Mutation	191						
MBD5	55777	broad.mit.edu	GRCh37	2	149248058	149248058	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0132-01	TCGA-06-0132-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000407073.1:c.4158C>T	p.Gly1386=	p.G1386=	ENST00000407073	NM_018328.4	1386	ggC/ggT	0		T:0	1	T:0		T	G	uc002twm.3	protein_coding	YES	CCDS33302.1			4158/4485									skin(3)|ovary(2)	5	c.(4156-4158)GGC>GGT			Gene3D:2.30.30.160,PROSITE_profiles:PS50812,hmmpanther:PTHR16112,hmmpanther:PTHR16112:SF14,Superfamily_domains:SSF63748	methyl-CpG binding domain protein 5		T:0.001		ENSP00000386049	T:0	15-Dec	0.000124	9.61E-05		0.000693		0.000105		6.06E-05	rs543329958,COSM173042	15-Dec	common_variant		ENST00000407073	Transcript	1	T:0.0002		chromosome|nucleus	chromatin binding|DNA binding	ENSG00000204406	g.chr2:149248058C>T	20444			LOW								--	--	1																																		MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Silent_p.G1386G|MBD5_uc002two.2_Silent_p.G644G|MBD5_uc002twp.2_Silent_p.G436G	0,1	1			p.G1386G	NM_018328	NP_060798	T:0		0,1	MBD5_HUMAN	MBD5	HGNC	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)			12	5146	+			UPI0000208C40	1386			PWWP.		SNV	MBD5,synonymous_variant,p.=,ENST00000407073,NM_018328.4;MBD5,synonymous_variant,p.=,ENST00000404807,;MBD5,intron_variant,,ENST00000416015,;MBD5,non_coding_transcript_exon_variant,,ENST00000496893,;	uc002twm.3	c.4158C>T	5155/5992	1	1			c.4158C>T						2	SNP	c.(4156-4158)GGC>GGT	13	13			skin(3)|ovary(2)	5	Broad	methyl-CpG binding domain protein 5			149248058		0.448	ENSG00000204406	9174	g.chr2:149248058C>T		chromosome|nucleus	chromatin binding|DNA binding							26.040216	KEEP	7	11	-1	65	42	7	11	-1	38.866609	65	42	0.148148	1	0	0	0	0	0	0	1	0	--	--		0	T			MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Silent_p.G1386G|MBD5_uc002two.2_Silent_p.G644G|MBD5_uc002twp.2_Silent_p.G436G	17	GBM-06-0132-TP	p.G1386G	C	TCAATGTTGGCGACTTGGTCT	NM_018328	NP_060798	149248058	Q9P267	MBD5_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.0569)	12	5146	+	T	T			Silent	1386			PWWP.			
MBD6	0	broad.mit.edu	GRCh37	12	57922312	57922312	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01	TCGA-16-1045-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355673.3:c.2789C>T	p.Pro930Leu	p.P930L	ENST00000355673	NM_052897.3	930	cCc/cTc	0			1			T	P/L	uc001soj.1	protein_coding	YES	CCDS8944.1			2789/3012									central_nervous_system(3)|ovary(1)	4	c.(2788-2790)CCC>CTC			hmmpanther:PTHR16112,Low_complexity_(Seg):seg	methyl-CpG binding domain protein 6				ENSP00000347896		13-Oct									COSM3398931	13-Oct	.		ENST00000355673	Transcript				chromosome|nucleus	chromatin binding|DNA binding	ENSG00000166987	g.chr12:57922312C>T	20445			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=MBD6_HUMAN&rb=907&re=1003&var=P930L	NA	getma.org/?cm=var&var=hg19,12,57922312,C,T&fts=all	P930L	--	--	1																																		MBD6_uc001sok.1_Missense_Mutation_p.P798L|MBD6_uc001sol.1_RNA	1	1		benign(0.017)	p.P930L	NM_052897	NP_443129		deleterious_low_confidence(0)	1	MBD6_HUMAN	MBD6	HGNC	Q96DN6	MBD6_HUMAN			F8VZD7_HUMAN,F8VVK7_HUMAN,F8VU14_HUMAN,F8VPC4_HUMAN,F8VNX1_HUMAN		10	3013	+			UPI000012ED13	930					SNV	MBD6,missense_variant,p.Pro930Leu,ENST00000355673,NM_052897.3;MBD6,missense_variant,p.Pro930Leu,ENST00000431731,;MBD6,missense_variant,p.Pro165Leu,ENST00000552163,;DCTN2,downstream_gene_variant,,ENST00000548249,NM_001261412.1,NM_001261413.1;DCTN2,downstream_gene_variant,,ENST00000543672,;DCTN2,downstream_gene_variant,,ENST00000434715,NM_006400.4;DCTN2,downstream_gene_variant,,ENST00000537439,;DCTN2,downstream_gene_variant,,ENST00000550954,;DCTN2,downstream_gene_variant,,ENST00000546758,;MBD6,downstream_gene_variant,,ENST00000546632,;MBD6,downstream_gene_variant,,ENST00000546805,;DCTN2,downstream_gene_variant,,ENST00000546670,;MBD6,downstream_gene_variant,,ENST00000548887,;MBD6,downstream_gene_variant,,ENST00000549623,;MBD6,downstream_gene_variant,,ENST00000551351,;MBD6,downstream_gene_variant,,ENST00000552659,;MBD6,downstream_gene_variant,,ENST00000552255,;DCTN2,downstream_gene_variant,,ENST00000550086,;MBD6,downstream_gene_variant,,ENST00000549231,;MBD6,missense_variant,p.Pro431Leu,ENST00000547545,;DCTN2,downstream_gene_variant,,ENST00000550201,;DCTN2,downstream_gene_variant,,ENST00000549394,;DCTN2,downstream_gene_variant,,ENST00000552390,;DCTN2,downstream_gene_variant,,ENST00000550988,;DCTN2,downstream_gene_variant,,ENST00000551872,;DCTN2,downstream_gene_variant,,ENST00000548736,;MBD6,downstream_gene_variant,,ENST00000548550,;MBD6,downstream_gene_variant,,ENST00000549042,;MBD6,upstream_gene_variant,,ENST00000547844,;	uc001soj.1	c.2789C>T	3145/4282	1	1			c.2789C>T						12	SNP	c.(2788-2790)CCC>CTC	8	8			central_nervous_system(3)|ovary(1)	4	Broad	methyl-CpG binding domain protein 6			57922312		0.577	ENSG00000166987	9175	g.chr12:57922312C>T		chromosome|nucleus	chromatin binding|DNA binding							-34.328202	KEEP	3	3	-1	92	119	3	3	-1	11.007976	92	119	0.031746	1	0	0	0	0	1	0	0	0	--	--		0	T			MBD6_uc001sok.1_Missense_Mutation_p.P798L|MBD6_uc001sol.1_RNA	157	GBM-16-1045-TP	p.P930L	C	AAGGATCCACCCCCTCCCGGG	NM_052897	NP_443129	57922312	Q96DN6	MBD6_HUMAN	0			10	3013	+	T	T			Missense_Mutation	930						
MBL2	4153	broad.mit.edu	GRCh37	10	54531391	54531391	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0747-01	TCGA-06-0747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373968.3:c.5C>A	p.Ser2Tyr	p.S2Y	ENST00000373968	NM_000242.2	2	tCc/tAc	0			1			T	S/Y	uc001jjt.2	protein_coding	YES	CCDS7247.1			5/747									ovary(1)	1	c.(4-6)TCC>TAC			hmmpanther:PTHR24020,hmmpanther:PTHR24020:SF2,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	soluble mannose-binding lectin precursor				ENSP00000363079		4-Jan									COSM3397173	4-Jan	.		ENST00000373968	Transcript	1		acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding	ENSG00000165471	g.chr10:54531391G>T	6922			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=MBL2_HUMAN&rb=1&re=39&var=S2Y	NA	getma.org/?cm=var&var=hg19,10,54531391,G,T&fts=all	S2Y	--	--	1																																			1	1		unknown(0)	p.S2Y	NM_000242	NP_000233		tolerated(0.41)	1	MBL2_HUMAN	MBL2	HGNC	P11226	MBL2_HUMAN			Q9HCS8_HUMAN,Q5SQS3_HUMAN,B1PN75_HUMAN		1	70	-			UPI0000035011	2					SNV	MBL2,missense_variant,p.Ser2Tyr,ENST00000373968,NM_000242.2;	uc001jjt.2	c.5C>A	70/3569	2	2			c.5C>A						10	SNP	c.(4-6)TCC>TAC	35	35			ovary(1)	1	Broad	soluble mannose-binding lectin precursor			54531391		0.502	ENSG00000165471	9177	g.chr10:54531391G>T	acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding							29.351292	KEEP	6	6	0.5	4	3	6	6	0.5	29.570181	4	3	0.625	1	0	0	0	0	1	0	0	0	--	--		0	T				68	GBM-06-0747-TP	p.S2Y	G	TGGAAACAGGGACATGGTCCT	NM_000242	NP_000233	54531391	P11226	MBL2_HUMAN	0			1	70	-	T	T			Missense_Mutation	2						
MBNL1	4154	broad.mit.edu	GRCh37	3	152018103	152018103	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0877-01	TCGA-06-0877-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282486.6:c.124del	p.Ser42AlafsTer9	p.S42Afs*9	ENST00000282486		41	Aaa/aa	0			1			-	K/X	uc003ezm.2	protein_coding	YES	CCDS3165.1			121/1167									ovary(1)	1	c.(121-123)AAAfs			PROSITE_profiles:PS50103,hmmpanther:PTHR12675,hmmpanther:PTHR12675:SF7	muscleblind-like 1 isoform c				ENSP00000282486		10-Feb									COSM2152161,COSM2152163,COSM2152162	10-Feb	.		ENST00000282486	Transcript	1		embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding	ENSG00000152601	g.chr3:152018103delA	6923	3		HIGH								--	--	1																																		MBNL1_uc003ezh.2_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezi.2_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezj.2_Intron|MBNL1_uc003ezl.2_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezp.2_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezn.2_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezo.2_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezg.1_RNA|MBNL1_uc003ezk.1_RNA	1,1,1	1			p.K41fs	NM_207293	NP_997176			1,1,1	MBNL1_HUMAN	MBNL1	HGNC	Q9NR56	MBNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		C9JCX1_HUMAN,C9J7P7_HUMAN		1	910	+			UPI000003B440	41			C3H1-type 1.		deletion	MBNL1,frameshift_variant,p.Ser42AlafsTer9,ENST00000282486,;MBNL1,frameshift_variant,p.Ser42AlafsTer9,ENST00000282488,;MBNL1,frameshift_variant,p.Ser42AlafsTer9,ENST00000355460,NM_207292.1;MBNL1,frameshift_variant,p.Ser42AlafsTer9,ENST00000324210,NM_021038.3;MBNL1,frameshift_variant,p.Ser42AlafsTer9,ENST00000498502,;MBNL1,frameshift_variant,p.Ser42AlafsTer9,ENST00000357472,NM_207297.1;MBNL1,frameshift_variant,p.Ser42AlafsTer9,ENST00000324196,NM_207296.1;MBNL1,frameshift_variant,p.Ser42AlafsTer9,ENST00000545754,NM_207295.1;MBNL1,frameshift_variant,p.Ser42AlafsTer9,ENST00000463374,NM_207293.1;MBNL1,frameshift_variant,p.Ser42AlafsTer9,ENST00000485910,NM_207294.1;MBNL1,frameshift_variant,p.Ser42AlafsTer9,ENST00000492948,;MBNL1,frameshift_variant,p.Ser42AlafsTer9,ENST00000485509,;MBNL1,frameshift_variant,p.Ser41AlafsTer9,ENST00000464596,;MBNL1,frameshift_variant,p.Ser42AlafsTer9,ENST00000465907,;MBNL1,intron_variant,,ENST00000493459,;MBNL1,intron_variant,,ENST00000460591,;MBNL1,intron_variant,,ENST00000459747,;MBNL1,intron_variant,,ENST00000495875,;MBNL1,non_coding_transcript_exon_variant,,ENST00000461436,;MBNL1,downstream_gene_variant,,ENST00000466565,;MBNL1,downstream_gene_variant,,ENST00000477171,;	uc003ezm.2	c.121delA	1963/6422	5	5			c.121delA						3	DEL	c.(121-123)AAAfs	51	51			ovary(1)	1	Broad	muscleblind-like 1 isoform c			152018103		0.403	ENSG00000152601	9180	g.chr3:152018103delA	embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding																				0.31	1	1	0	1	0	0	0	0	0	--	--		0	-			MBNL1_uc003ezh.2_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezi.2_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezj.2_Intron|MBNL1_uc003ezl.2_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezp.2_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezn.2_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezo.2_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezg.1_RNA|MBNL1_uc003ezk.1_RNA	73	GBM-06-0877-TP	p.K41fs	A	ACATCCTTCGAAAAGCTGCCA	NM_207293	NP_997176	152018103	Q9NR56	MBNL1_HUMAN	0	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		1	910	+	-	-			Frame_Shift_Del	41			C3H1-type 1.			
MBNL1	0	broad.mit.edu	GRCh37	3	152163096	152163096	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-6391-01	TCGA-06-6391-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282486.6:c.575A>T	p.Asn192Ile	p.N192I	ENST00000282486		192	aAt/aTt	0			1			T	N/I	uc003ezm.2	protein_coding	YES	CCDS3165.1			575/1167									ovary(1)	1	c.(574-576)AAT>ATT			PROSITE_profiles:PS50103,hmmpanther:PTHR12675,hmmpanther:PTHR12675:SF7,Gene3D:1m9oA00,Pfam_domain:PF00642,SMART_domains:SM00356	muscleblind-like 1 isoform c				ENSP00000282486		10-May										10-May	.		ENST00000282486	Transcript	1		embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding	ENSG00000152601	g.chr3:152163096A>T	6923			MODERATE		2.655	medium	getma.org/?cm=msa&ty=f&p=MBNL1_HUMAN&rb=1&re=200&var=N192I	NA	getma.org/?cm=var&var=hg19,3,152163096,A,T&fts=all	N192I	--	--	1																																		MBNL1_uc003ezh.2_Missense_Mutation_p.N192I|MBNL1_uc003ezi.2_Missense_Mutation_p.N192I|MBNL1_uc003ezj.2_Missense_Mutation_p.N135I|MBNL1_uc003ezl.2_Missense_Mutation_p.N192I|MBNL1_uc003ezp.2_Missense_Mutation_p.N192I|MBNL1_uc003ezn.2_Missense_Mutation_p.N124I|MBNL1_uc003ezo.2_Missense_Mutation_p.N124I|MBNL1_uc010hvp.2_Missense_Mutation_p.N100I		1		possibly_damaging(0.886)	p.N192I	NM_207293	NP_997176		deleterious(0)		MBNL1_HUMAN	MBNL1	HGNC	Q9NR56	MBNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		C9JCX1_HUMAN,C9J7P7_HUMAN		4	1364	+			UPI000003B440	192			C3H1-type 3.		SNV	MBNL1,missense_variant,p.Asn192Ile,ENST00000282486,;MBNL1,missense_variant,p.Asn124Ile,ENST00000282488,;MBNL1,missense_variant,p.Asn192Ile,ENST00000355460,NM_207292.1;MBNL1,missense_variant,p.Asn192Ile,ENST00000324210,NM_021038.3;MBNL1,missense_variant,p.Asn192Ile,ENST00000498502,;MBNL1,missense_variant,p.Asn192Ile,ENST00000357472,NM_207297.1;MBNL1,missense_variant,p.Asn192Ile,ENST00000324196,NM_207296.1;MBNL1,missense_variant,p.Asn124Ile,ENST00000545754,NM_207295.1;MBNL1,missense_variant,p.Asn192Ile,ENST00000463374,NM_207293.1;MBNL1,missense_variant,p.Asn124Ile,ENST00000485910,NM_207294.1;MBNL1,missense_variant,p.Asn135Ile,ENST00000493459,;MBNL1,missense_variant,p.Asn95Ile,ENST00000478535,;MBNL1,missense_variant,p.Asn192Ile,ENST00000492948,;MBNL1,missense_variant,p.Asn192Ile,ENST00000485509,;MBNL1,missense_variant,p.Asn191Ile,ENST00000464596,;MBNL1,missense_variant,p.Asn124Ile,ENST00000465907,;MBNL1,missense_variant,p.Asn100Ile,ENST00000460591,;Y_RNA,upstream_gene_variant,,ENST00000364347,;MBNL1,non_coding_transcript_exon_variant,,ENST00000460166,;	uc003ezm.2	c.575A>T	2417/6422	2	2			c.575A>T						3	SNP	c.(574-576)AAT>ATT	46	46			ovary(1)	1	Broad	muscleblind-like 1 isoform c			152163096		0.403	ENSG00000152601	9180	g.chr3:152163096A>T	embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding							58.507372	KEEP	12	12	-1	36	43	12	12	-1	63.506875	36	43	0.25	1	0	0	0	0	1	0	0	0	--	--		0	T			MBNL1_uc003ezh.2_Missense_Mutation_p.N192I|MBNL1_uc003ezi.2_Missense_Mutation_p.N192I|MBNL1_uc003ezj.2_Missense_Mutation_p.N135I|MBNL1_uc003ezl.2_Missense_Mutation_p.N192I|MBNL1_uc003ezp.2_Missense_Mutation_p.N192I|MBNL1_uc003ezn.2_Missense_Mutation_p.N124I|MBNL1_uc003ezo.2_Missense_Mutation_p.N124I|MBNL1_uc010hvp.2_Missense_Mutation_p.N100I	107	GBM-06-6391-TP	p.N192I	A	CAACGTGGCAATTGCAACCGA	NM_207293	NP_997176	152163096	Q9NR56	MBNL1_HUMAN	0	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		4	1364	+	T	T			Missense_Mutation	192			C3H1-type 3.			
MBNL1	0	broad.mit.edu	GRCh37	3	152018056	152018056	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1834-01	TCGA-27-1834-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282486.6:c.74G>A	p.Gly25Glu	p.G25E	ENST00000282486		25	gGg/gAg	0			1			A	G/E	uc003ezm.2	protein_coding	YES	CCDS3165.1			74/1167									ovary(1)	1	c.(73-75)GGG>GAG			PROSITE_profiles:PS50103,hmmpanther:PTHR12675,hmmpanther:PTHR12675:SF7,Gene3D:1m9oA00,SMART_domains:SM00356	muscleblind-like 1 isoform c				ENSP00000282486		10-Feb									COSM3408355,COSM3408357,COSM3408356	10-Feb	.		ENST00000282486	Transcript	1		embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding	ENSG00000152601	g.chr3:152018056G>A	6923			MODERATE		3.42	medium	getma.org/?cm=msa&ty=f&p=MBNL1_HUMAN&rb=1&re=200&var=G25E	getma.org/pdb.php?prot=MBNL1_HUMAN&from=1&to=200&var=G25E	getma.org/?cm=var&var=hg19,3,152018056,G,A&fts=all	G25E	--	--	1																																		MBNL1_uc003ezh.2_Missense_Mutation_p.G25E|MBNL1_uc003ezi.2_Missense_Mutation_p.G25E|MBNL1_uc003ezj.2_Intron|MBNL1_uc003ezl.2_Missense_Mutation_p.G25E|MBNL1_uc003ezp.2_Missense_Mutation_p.G25E|MBNL1_uc003ezn.2_Missense_Mutation_p.G25E|MBNL1_uc003ezo.2_Missense_Mutation_p.G25E|MBNL1_uc003ezg.1_RNA|MBNL1_uc003ezk.1_RNA	1,1,1	1		possibly_damaging(0.869)	p.G25E	NM_207293	NP_997176		deleterious(0)	1,1,1	MBNL1_HUMAN	MBNL1	HGNC	Q9NR56	MBNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		C9JCX1_HUMAN,C9J7P7_HUMAN		1	863	+			UPI000003B440	25			C3H1-type 1.		SNV	MBNL1,missense_variant,p.Gly25Glu,ENST00000282486,;MBNL1,missense_variant,p.Gly25Glu,ENST00000282488,;MBNL1,missense_variant,p.Gly25Glu,ENST00000355460,NM_207292.1;MBNL1,missense_variant,p.Gly25Glu,ENST00000324210,NM_021038.3;MBNL1,missense_variant,p.Gly25Glu,ENST00000498502,;MBNL1,missense_variant,p.Gly25Glu,ENST00000357472,NM_207297.1;MBNL1,missense_variant,p.Gly25Glu,ENST00000324196,NM_207296.1;MBNL1,missense_variant,p.Gly25Glu,ENST00000545754,NM_207295.1;MBNL1,missense_variant,p.Gly25Glu,ENST00000463374,NM_207293.1;MBNL1,missense_variant,p.Gly25Glu,ENST00000485910,NM_207294.1;MBNL1,missense_variant,p.Gly25Glu,ENST00000492948,;MBNL1,missense_variant,p.Gly25Glu,ENST00000485509,;MBNL1,missense_variant,p.Gly24Glu,ENST00000464596,;MBNL1,missense_variant,p.Gly25Glu,ENST00000465907,;MBNL1,intron_variant,,ENST00000493459,;MBNL1,intron_variant,,ENST00000460591,;MBNL1,intron_variant,,ENST00000459747,;MBNL1,intron_variant,,ENST00000495875,;MBNL1,non_coding_transcript_exon_variant,,ENST00000461436,;MBNL1,downstream_gene_variant,,ENST00000466565,;MBNL1,downstream_gene_variant,,ENST00000477171,;	uc003ezm.2	c.74G>A	1916/6422	2	2			c.74G>A						3	SNP	c.(73-75)GGG>GAG	36	36			ovary(1)	1	Broad	muscleblind-like 1 isoform c			152018056		0.428	ENSG00000152601	9180	g.chr3:152018056G>A	embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding							165.093935	KEEP	32	31	-1	79	72	32	31	-1	172.628591	79	72	0.292308	1	0	0	0	0	1	0	0	0	--	--		0	A			MBNL1_uc003ezh.2_Missense_Mutation_p.G25E|MBNL1_uc003ezi.2_Missense_Mutation_p.G25E|MBNL1_uc003ezj.2_Intron|MBNL1_uc003ezl.2_Missense_Mutation_p.G25E|MBNL1_uc003ezp.2_Missense_Mutation_p.G25E|MBNL1_uc003ezn.2_Missense_Mutation_p.G25E|MBNL1_uc003ezo.2_Missense_Mutation_p.G25E|MBNL1_uc003ezg.1_RNA|MBNL1_uc003ezk.1_RNA	193	GBM-27-1834-TP	p.G25E	G	TTCCAGAGGGGGACTTGCTCA	NM_207293	NP_997176	152018056	Q9NR56	MBNL1_HUMAN	0	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		1	863	+	A	A			Missense_Mutation	25			C3H1-type 1.			
MBNL1	0	broad.mit.edu	GRCh37	3	152132751	152132751	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-27-1834-01	TCGA-27-1834-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282486.6:c.196T>A	p.Cys66Ser	p.C66S	ENST00000282486		66	Tgc/Agc	0			1			A	C/S	uc003ezm.2	protein_coding	YES	CCDS3165.1			196/1167									ovary(1)	1	c.(196-198)TGC>AGC			PROSITE_profiles:PS50103,hmmpanther:PTHR12675,hmmpanther:PTHR12675:SF7,SMART_domains:SM00356	muscleblind-like 1 isoform c				ENSP00000282486		10-Mar									COSM3408360,COSM3408362,COSM3408361	10-Mar	.		ENST00000282486	Transcript	1		embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding	ENSG00000152601	g.chr3:152132751T>A	6923			MODERATE		3.515	high	getma.org/?cm=msa&ty=f&p=MBNL1_HUMAN&rb=1&re=200&var=C66S	getma.org/pdb.php?prot=MBNL1_HUMAN&from=1&to=200&var=C66S	getma.org/?cm=var&var=hg19,3,152132751,T,A&fts=all	C66S	--	--	1																																		MBNL1_uc003ezh.2_Missense_Mutation_p.C66S|MBNL1_uc003ezi.2_Missense_Mutation_p.C66S|MBNL1_uc003ezj.2_Missense_Mutation_p.C9S|MBNL1_uc003ezl.2_Missense_Mutation_p.C66S|MBNL1_uc003ezp.2_Missense_Mutation_p.C66S|MBNL1_uc003ezn.2_Missense_Mutation_p.C66S|MBNL1_uc003ezo.2_Missense_Mutation_p.C66S|MBNL1_uc010hvp.2_5'UTR	1,1,1	1		possibly_damaging(0.622)	p.C66S	NM_207293	NP_997176		deleterious(0)	1,1,1	MBNL1_HUMAN	MBNL1	HGNC	Q9NR56	MBNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		C9JCX1_HUMAN,C9J7P7_HUMAN		2	985	+			UPI000003B440	66			C3H1-type 2.		SNV	MBNL1,missense_variant,p.Cys66Ser,ENST00000282486,;MBNL1,missense_variant,p.Cys66Ser,ENST00000282488,;MBNL1,missense_variant,p.Cys66Ser,ENST00000355460,NM_207292.1;MBNL1,missense_variant,p.Cys66Ser,ENST00000324210,NM_021038.3;MBNL1,missense_variant,p.Cys66Ser,ENST00000498502,;MBNL1,missense_variant,p.Cys66Ser,ENST00000357472,NM_207297.1;MBNL1,missense_variant,p.Cys66Ser,ENST00000324196,NM_207296.1;MBNL1,missense_variant,p.Cys66Ser,ENST00000545754,NM_207295.1;MBNL1,missense_variant,p.Cys66Ser,ENST00000463374,NM_207293.1;MBNL1,missense_variant,p.Cys66Ser,ENST00000485910,NM_207294.1;MBNL1,missense_variant,p.Cys9Ser,ENST00000493459,;MBNL1,missense_variant,p.Cys66Ser,ENST00000492948,;MBNL1,missense_variant,p.Cys66Ser,ENST00000485509,;MBNL1,missense_variant,p.Cys65Ser,ENST00000464596,;MBNL1,missense_variant,p.Cys66Ser,ENST00000465907,;MBNL1,missense_variant,p.Cys10Ser,ENST00000459747,;MBNL1,5_prime_UTR_variant,,ENST00000460591,;MBNL1,5_prime_UTR_variant,,ENST00000495875,;MBNL1,upstream_gene_variant,,ENST00000478535,;MBNL1,upstream_gene_variant,,ENST00000460166,;	uc003ezm.2	c.196T>A	2038/6422	2	2			c.196T>A						3	SNP	c.(196-198)TGC>AGC	26	26			ovary(1)	1	Broad	muscleblind-like 1 isoform c			152132751		0.393	ENSG00000152601	9180	g.chr3:152132751T>A	embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding							-33.761085	KEEP	6	5	-1	140	131	6	5	-1	21.556456	140	131	0.040984	1	0	0	0	0	1	0	0	0	--	--		0	A			MBNL1_uc003ezh.2_Missense_Mutation_p.C66S|MBNL1_uc003ezi.2_Missense_Mutation_p.C66S|MBNL1_uc003ezj.2_Missense_Mutation_p.C9S|MBNL1_uc003ezl.2_Missense_Mutation_p.C66S|MBNL1_uc003ezp.2_Missense_Mutation_p.C66S|MBNL1_uc003ezn.2_Missense_Mutation_p.C66S|MBNL1_uc003ezo.2_Missense_Mutation_p.C66S|MBNL1_uc010hvp.2_5'UTR	193	GBM-27-1834-TP	p.C66S	T	CAGGGAGAACTGCAAATATCT	NM_207293	NP_997176	152132751	Q9NR56	MBNL1_HUMAN	0	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		2	985	+	A	A			Missense_Mutation	66			C3H1-type 2.			
MBOAT1	154141	broad.mit.edu	GRCh37	6	20118736	20118736	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs150163538		TCGA-06-5408-01	TCGA-06-5408-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324607.7:c.943A>G	p.Ser315Gly	p.S315G	ENST00000324607	NM_001080480.2	315	Agc/Ggc	0	C:0		1			C	S/G	uc003ncx.1	protein_coding	YES	CCDS34346.1			943/1488										0	c.(943-945)AGC>GGC			hmmpanther:PTHR13906:SF6,hmmpanther:PTHR13906,Pfam_domain:PF03062	membrane bound O-acyltransferase domain			C:0.0001	ENSP00000324944		13-Sep	2.47E-05					4.50E-05			rs150163538,COSM3410828	13-Sep	.		ENST00000324607	Transcript			phospholipid biosynthetic process	integral to membrane	acyltransferase activity	ENSG00000172197	g.chr6:20118736T>C	21579			MODERATE		1.965	medium	getma.org/?cm=msa&ty=f&p=MBOA1_HUMAN&rb=123&re=443&var=S315G	NA	getma.org/?cm=var&var=hg19,6,20118736,T,C&fts=all	S315G	--	--	1																																		MBOAT1_uc011dji.1_Missense_Mutation_p.S166G	0,1	1		possibly_damaging(0.648)	p.S315G	NM_001080480	NP_001073949		tolerated(0.06)	0,1	MBOA1_HUMAN	MBOAT1	HGNC	Q6ZNC8	MBOA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)				9	1148	-	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		UPI000020D5D0	315			Helical; (Potential).		SNV	MBOAT1,missense_variant,p.Ser166Gly,ENST00000541730,;MBOAT1,missense_variant,p.Ser315Gly,ENST00000324607,NM_001080480.2;	uc003ncx.1	c.943A>G	1108/1794	3	3			c.943A>G						6	SNP	c.(943-945)AGC>GGC	1	1				0	Broad	membrane bound O-acyltransferase domain			20118736		0.393	ENSG00000172197	9183	g.chr6:20118736T>C	phospholipid biosynthetic process	integral to membrane	acyltransferase activity							157.307228	KEEP	27	27	-1	14	31	27	27	-1	157.509969	14	31	0.551724	1	0	0	0	0	1	0	0	0	--	--		0	C			MBOAT1_uc011dji.1_Missense_Mutation_p.S166G	92	GBM-06-5408-TP	p.S315G	T	TCCACTCCGCTGAACCCAAAG	NM_001080480	NP_001073949	20118736	Q6ZNC8	MBOA1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)		9	1148	-	C	C	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		Missense_Mutation	315			Helical; (Potential).			
MBOAT7	0	broad.mit.edu	GRCh37	19	54677935	54677935	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-26-5136-01	TCGA-26-5136-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245615.1:c.1222G>C	p.Asp408His	p.D408H	ENST00000245615	NM_024298.3	408	Gac/Cac	0			1			G	D/H	uc002qdq.2	protein_coding	YES	CCDS12883.1			1222/1419										0	c.(1222-1224)GAC>CAC			Pfam_domain:PF03062,hmmpanther:PTHR13906,hmmpanther:PTHR13906:SF8	membrane bound O-acyltransferase domain				ENSP00000245615		8-Aug									COSM3404571	8-Aug	.		ENST00000245615	Transcript			phospholipid biosynthetic process	integral to membrane	acyltransferase activity	ENSG00000125505	g.chr19:54677935C>G	15505			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=MBOA7_HUMAN&rb=72&re=419&var=D408H	NA	getma.org/?cm=var&var=hg19,19,54677935,C,G&fts=all	D408H	--	--	1																																		TMC4_uc010erf.2_5'Flank|TMC4_uc002qdo.2_5'Flank|MBOAT7_uc010erg.2_Missense_Mutation_p.D92H|MBOAT7_uc010yem.1_Missense_Mutation_p.D390H|MBOAT7_uc002qdr.2_Missense_Mutation_p.D408H|MBOAT7_uc002qds.2_Missense_Mutation_p.D335H|MBOAT7_uc010yen.1_Missense_Mutation_p.D335H	1	1		probably_damaging(0.998)	p.D408H	NM_024298	NP_077274		deleterious(0)	1	MBOA7_HUMAN	MBOAT7	HGNC	Q96N66	MBOA7_HUMAN			C9J4E9_HUMAN,A9C4B8_HUMAN		9	1488	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		UPI000013CBAC	408					SNV	MBOAT7,missense_variant,p.Asp408His,ENST00000245615,NM_024298.3;MBOAT7,missense_variant,p.Asp335His,ENST00000431666,NM_001146083.1;MBOAT7,missense_variant,p.Asp335His,ENST00000338624,NM_001146056.1;MBOAT7,3_prime_UTR_variant,,ENST00000449249,;TMC4,upstream_gene_variant,,ENST00000376591,NM_001145303.1,NM_144686.2;TMC4,upstream_gene_variant,,ENST00000301187,;MBOAT7,downstream_gene_variant,,ENST00000391754,NM_001146082.1;TMC4,upstream_gene_variant,,ENST00000446291,;TMC4,upstream_gene_variant,,ENST00000476013,;TMC4,upstream_gene_variant,,ENST00000479750,;MBOAT7,3_prime_UTR_variant,,ENST00000437868,;MBOAT7,non_coding_transcript_exon_variant,,ENST00000494142,;	uc002qdq.2	c.1222G>C	1703/2529	3	3			c.1222G>C						19	SNP	c.(1222-1224)GAC>CAC	12	12				0	Broad	membrane bound O-acyltransferase domain			54677935		0.652	ENSG00000125505	9185	g.chr19:54677935C>G	phospholipid biosynthetic process	integral to membrane	acyltransferase activity	NSCLC(97;826 2151 10470 22540)			NSCLC(97;826 2151 10470 22540)			-44.356635	KEEP	1	2	-1	93	122	1	2	-1	6.430966	93	122	0.015707	1	0	0	0	0	1	0	0	0	--	--		0	G			TMC4_uc010erf.2_5'Flank|TMC4_uc002qdo.2_5'Flank|MBOAT7_uc010erg.2_Missense_Mutation_p.D92H|MBOAT7_uc010yem.1_Missense_Mutation_p.D390H|MBOAT7_uc002qdr.2_Missense_Mutation_p.D408H|MBOAT7_uc002qds.2_Missense_Mutation_p.D335H|MBOAT7_uc010yen.1_Missense_Mutation_p.D335H	185	GBM-26-5136-TP	p.D408H	C	CACATGTAGTCATAGGCGCGC	NM_024298	NP_077274	54677935	Q96N66	MBOA7_HUMAN	0			9	1488	-	G	G	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		Missense_Mutation	408						
MBTD1	54799		GRCh37	17	49270165	49270165	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000586178.1:c.1668A>G	p.Gln556=	p.Q556=	ENST00000586178	NM_017643.2	556	caA/caG	0																																																																																																																																																																																																																																												
MC2R	4158	broad.mit.edu	GRCh37	18	13885086	13885086	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327606.3:c.432G>A	p.Met144Ile	p.M144I	ENST00000327606	NM_000529.2	144	atG/atA	0			1			T	M/I	uc002ksp.1	protein_coding	YES	CCDS11869.1			432/894									ovary(4)|skin(1)	5	c.(430-432)ATG>ATA			Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF3,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321	melanocortin 2 receptor	Corticotropin(DB01285)|Cosyntropin(DB01284)			ENSP00000333821		2-Feb									COSM3403442	2-Feb	.		ENST00000327606	Transcript	1		G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	ENSG00000185231	g.chr18:13885086C>T	6930			MODERATE		1.165	low	getma.org/?cm=msa&ty=f&p=ACTHR_HUMAN&rb=41&re=276&var=M144I	getma.org/pdb.php?prot=ACTHR_HUMAN&from=41&to=276&var=M144I	getma.org/?cm=var&var=hg19,18,13885086,C,T&fts=all	M144I	--	--	1																																			1	1		benign(0.002)	p.M144I	NM_000529	NP_000520		tolerated(0.16)	1	ACTHR_HUMAN	MC2R	HGNC	Q01718	ACTHR_HUMAN			R4GMM0_HUMAN		2	609	-			UPI00000503E5	144			Cytoplasmic (By similarity).		SNV	MC2R,missense_variant,p.Met144Ile,ENST00000327606,NM_000529.2;MC2R,downstream_gene_variant,,ENST00000399821,;	uc002ksp.1	c.432G>A	613/3656	2	2			c.432G>A						18	SNP	c.(430-432)ATG>ATA	35	35			ovary(4)|skin(1)	5	Broad	melanocortin 2 receptor		Corticotropin(DB01285)|Cosyntropin(DB01284)	13885086		0.577	ENSG00000185231	9191	g.chr18:13885086C>T	G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	Colon(141;1584 1782 35999 48227 48692)			Colon(141;1584 1782 35999 48227 48692)			6.633039	KEEP	6	8	-1	58	83	6	8	-1	30.812692	58	83	0.095238	1	0	0	0	0	1	0	0	0	--	--		0	T				102	GBM-06-5858-TP	p.M144I	C	CAGTGCGGCGCATGGTCACGA	NM_000529	NP_000520	13885086	Q01718	ACTHR_HUMAN	0			2	609	-	T	T			Missense_Mutation	144			Cytoplasmic (By similarity).			
MC2R	0	broad.mit.edu	GRCh37	18	13885215	13885216	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-12-0616-01	TCGA-12-0616-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327606.3:c.302dupC	p.Ala102SerfsTer3	p.A102Sfs*3	ENST00000327606	NM_000529.2	101	aca/acCa	0			1			G	T/TX	uc002ksp.1	protein_coding	YES	CCDS11869.1			302-303/894									ovary(4)|skin(1)	5	c.(301-303)ACAfs			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00520,PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF3,Superfamily_domains:SSF81321	melanocortin 2 receptor	Corticotropin(DB01285)|Cosyntropin(DB01284)			ENSP00000333821		2-Feb	6.59E-05	0.000386			0.000303	1.50E-05			rs759312619	2-Feb	.		ENST00000327606	Transcript	1		G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	ENSG00000185231	g.chr18:13885215_13885216insG	6930			HIGH								--	--	1																																				1			p.T101fs	NM_000529	NP_000520				ACTHR_HUMAN	MC2R	HGNC	Q01718	ACTHR_HUMAN			R4GMM0_HUMAN		2	479_480	-			UPI00000503E5	101			Extracellular (By similarity).		insertion	MC2R,frameshift_variant,p.Ala102SerfsTer3,ENST00000327606,NM_000529.2;MC2R,frameshift_variant,p.Ala102SerfsTer3,ENST00000399821,;	uc002ksp.1	c.302_303insC	483-484/3656	5	5			c.302_303insC						18	INS	c.(301-303)ACAfs	3	3			ovary(4)|skin(1)	5	Broad	melanocortin 2 receptor		Corticotropin(DB01285)|Cosyntropin(DB01284)	13885216		0.48	ENSG00000185231	9191	g.chr18:13885215_13885216insG	G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	Colon(141;1584 1782 35999 48227 48692)			Colon(141;1584 1782 35999 48227 48692)																0.04	1	0	0	1	1	0	0	0	0	--	--		0	G				118	GBM-12-0616-TP	p.T101fs	-	TGTCATCGGCTGTGGTTTCAAA	NM_000529	NP_000520	13885215	Q01718	ACTHR_HUMAN	0			2	479_480	-	G	G			Frame_Shift_Ins	101			Extracellular (By similarity).			
MC2R	0	broad.mit.edu	GRCh37	18	13885081	13885081	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01	TCGA-19-2623-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327606.3:c.437G>A	p.Arg146His	p.R146H	ENST00000327606	NM_000529.2	146	cGc/cAc	0			1			T	R/H	uc002ksp.1	protein_coding	YES	CCDS11869.1			437/894									ovary(4)|skin(1)	5	c.(436-438)CGC>CAC			Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF3,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321	melanocortin 2 receptor	Corticotropin(DB01285)|Cosyntropin(DB01284)			ENSP00000333821		2-Feb	4.12E-05					1.50E-05		0.000242	rs758709668,COSM148407	2-Feb	.		ENST00000327606	Transcript	1		G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	ENSG00000185231	g.chr18:13885081C>T	6930			MODERATE		3.185	medium	getma.org/?cm=msa&ty=f&p=ACTHR_HUMAN&rb=41&re=276&var=R146H	getma.org/pdb.php?prot=ACTHR_HUMAN&from=41&to=276&var=R146H	getma.org/?cm=var&var=hg19,18,13885081,C,T&fts=all	R146H	--	--	1																																			0,1	1		benign(0.033)	p.R146H	NM_000529	NP_000520		deleterious(0)	0,1	ACTHR_HUMAN	MC2R	HGNC	Q01718	ACTHR_HUMAN			R4GMM0_HUMAN		2	614	-			UPI00000503E5	146		R -> H (in GCCD1).	Cytoplasmic (By similarity).		SNV	MC2R,missense_variant,p.Arg146His,ENST00000327606,NM_000529.2;MC2R,downstream_gene_variant,,ENST00000399821,;	uc002ksp.1	c.437G>A	618/3656	1	1			c.437G>A						18	SNP	c.(436-438)CGC>CAC	2	2			ovary(4)|skin(1)	5	Broad	melanocortin 2 receptor		Corticotropin(DB01285)|Cosyntropin(DB01284)	13885081		0.577	ENSG00000185231	9191	g.chr18:13885081C>T	G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	Colon(141;1584 1782 35999 48227 48692)			Colon(141;1584 1782 35999 48227 48692)			-16.791039	KEEP	2	2	-1	46	61	2	2	-1	8.001186	46	61	0.037383	1	0	0	0	0	1	0	0	0	--	--		0	T				163	GBM-19-2623-TP	p.R146H	C	CACCACAGTGCGGCGCATGGT	NM_000529	NP_000520	13885081	Q01718	ACTHR_HUMAN	0			2	614	-	T	T			Missense_Mutation	146		R -> H (in GCCD1).	Cytoplasmic (By similarity).			
MC3R	4159	broad.mit.edu	GRCh37	20	54824329	54824329	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01	TCGA-06-0158-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000243911.2:c.430G>A	p.Val144Ile	p.V144I	ENST00000243911	NM_019888.3	144	Gtc/Atc	0			1			A	V/I	uc002xxb.2	protein_coding	YES	CCDS13449.2			430/972									ovary(2)|breast(2)	4	c.(430-432)GTC>ATC			PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF4,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	melanocortin 3 receptor				ENSP00000243911		1-Jan	1.65E-05					3.00E-05			rs775292393,COSM2150145	1-Jan	.		ENST00000243911	Transcript	1		activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	ENSG00000124089	g.chr20:54824329G>A	6931			MODERATE		0.105	neutral	getma.org/?cm=msa&ty=f&p=MC3R_HUMAN&rb=92&re=336&var=V181I	getma.org/pdb.php?prot=MC3R_HUMAN&from=92&to=336&var=V181I	getma.org/?cm=var&var=hg19,20,54824329,G,A&fts=all	V181I	--	--	1																																			0,1	1		benign(0.015)	p.V144I	NM_019888	NP_063941		tolerated(1)	0,1	MC3R_HUMAN	MC3R	HGNC	P41968	MC3R_HUMAN	Colorectal(105;0.202)				1	542	+			UPI0000E5A34B	181			Cytoplasmic (Potential).		SNV	MC3R,missense_variant,p.Val144Ile,ENST00000243911,NM_019888.3;	uc002xxb.2	c.430G>A	542/1084	1	1			c.430G>A						20	SNP	c.(430-432)GTC>ATC	55	55			ovary(2)|breast(2)	4	Broad	melanocortin 3 receptor			54824329		0.582	ENSG00000124089	9192	g.chr20:54824329G>A	activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding							179.409856	KEEP	40	37	-1	106	106	40	37	-1	192.294954	106	106	0.267925	1	0	0	0	0	1	0	0	0	--	--		0	A				29	GBM-06-0158-TP	p.V144I	G	CGACAGGTACGTCACCATCTT	NM_019888	NP_063941	54824329	P41968	MC3R_HUMAN	0	Colorectal(105;0.202)		1	542	+	A	A			Missense_Mutation	181			Cytoplasmic (Potential).			
MC3R	0	broad.mit.edu	GRCh37	20	54824418	54824418	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-1825-01	TCGA-14-1825-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000243911.2:c.519C>T	p.Gly173=	p.G173=	ENST00000243911	NM_019888.3	173	ggC/ggT	0			1			T	G	uc002xxb.2	protein_coding	YES	CCDS13449.2			519/972									ovary(2)|breast(2)	4	c.(517-519)GGC>GGT			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF4,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	melanocortin 3 receptor				ENSP00000243911		1-Jan									COSM3405217	1-Jan	.		ENST00000243911	Transcript	1		activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	ENSG00000124089	g.chr20:54824418C>T	6931			LOW								--	--	1																																			1	1			p.G173G	NM_019888	NP_063941			1	MC3R_HUMAN	MC3R	HGNC	P41968	MC3R_HUMAN	Colorectal(105;0.202)				1	631	+			UPI0000E5A34B	210			Helical; Name=4; (Potential).		SNV	MC3R,synonymous_variant,p.=,ENST00000243911,NM_019888.3;	uc002xxb.2	c.519C>T	631/1084	2	2			c.519C>T						20	SNP	c.(517-519)GGC>GGT	18	18			ovary(2)|breast(2)	4	Broad	melanocortin 3 receptor			54824418		0.562	ENSG00000124089	9192	g.chr20:54824418C>T	activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding							171.584352	KEEP	39	30	-1	63	40	39	30	-1	172.970467	63	40	0.397351	1	0	0	0	0	0	0	1	0	--	--		0	T				148	GBM-14-1825-TP	p.G173G	C	TCTGCTGCGGCGTCTGTGGCG	NM_019888	NP_063941	54824418	P41968	MC3R_HUMAN	0	Colorectal(105;0.202)		1	631	+	T	T			Silent	210			Helical; Name=4; (Potential).			
MC3R	0	broad.mit.edu	GRCh37	20	54824279	54824279	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2625-01	TCGA-19-2625-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000243911.2:c.380C>T	p.Ser127Phe	p.S127F	ENST00000243911	NM_019888.3	127	tCc/tTc	0			1			T	S/F	uc002xxb.2	protein_coding	YES	CCDS13449.2			380/972									ovary(2)|breast(2)	4	c.(379-381)TCC>TTC			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF4,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00534,Prints_domain:PR00237	melanocortin 3 receptor				ENSP00000243911		1-Jan									COSM3405216	1-Jan	.		ENST00000243911	Transcript	1		activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	ENSG00000124089	g.chr20:54824279C>T	6931			MODERATE		2.64	medium	getma.org/?cm=msa&ty=f&p=MC3R_HUMAN&rb=92&re=336&var=S164F	getma.org/pdb.php?prot=MC3R_HUMAN&from=92&to=336&var=S164F	getma.org/?cm=var&var=hg19,20,54824279,C,T&fts=all	S164F	--	--	1																																			1	1		probably_damaging(1)	p.S127F	NM_019888	NP_063941		deleterious(0)	1	MC3R_HUMAN	MC3R	HGNC	P41968	MC3R_HUMAN	Colorectal(105;0.202)				1	492	+			UPI0000E5A34B	164			Helical; Name=3; (Potential).		SNV	MC3R,missense_variant,p.Ser127Phe,ENST00000243911,NM_019888.3;	uc002xxb.2	c.380C>T	492/1084	1	1			c.380C>T						20	SNP	c.(379-381)TCC>TTC	11	11			ovary(2)|breast(2)	4	Broad	melanocortin 3 receptor			54824279		0.557	ENSG00000124089	9192	g.chr20:54824279C>T	activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding							127.645673	KEEP	22	27	-1	55	53	22	27	-1	131.773093	55	53	0.321918	1	0	0	0	0	1	0	0	0	--	--		0	T				165	GBM-19-2625-TP	p.S127F	C	ATCTGCATCTCCCTGGTGGCC	NM_019888	NP_063941	54824279	P41968	MC3R_HUMAN	0	Colorectal(105;0.202)		1	492	+	T	T			Missense_Mutation	164			Helical; Name=3; (Potential).			
MC3R	0	broad.mit.edu	GRCh37	20	54824649	54824649	+	synonymous_variant	Silent	SNP	G	G	C	rs139424256		TCGA-76-4932-01	TCGA-76-4932-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000243911.2:c.750G>C	p.Val250=	p.V250=	ENST00000243911	NM_019888.3	250	gtG/gtC	0			1			C	V	uc002xxb.2	protein_coding	YES	CCDS13449.2			750/972									ovary(2)|breast(2)	4	c.(748-750)GTG>GTC			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF4,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00534,Prints_domain:PR00237	melanocortin 3 receptor				ENSP00000243911		1-Jan									COSM3405219	1-Jan	.		ENST00000243911	Transcript	1		activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	ENSG00000124089	g.chr20:54824649G>C	6931			LOW								--	--	1																																			1	1			p.V250V	NM_019888	NP_063941			1	MC3R_HUMAN	MC3R	HGNC	P41968	MC3R_HUMAN	Colorectal(105;0.202)				1	862	+			UPI0000E5A34B	287			Helical; Name=6; (Potential).		SNV	MC3R,synonymous_variant,p.=,ENST00000243911,NM_019888.3;	uc002xxb.2	c.750G>C	862/1084	3	3			c.750G>C						20	SNP	c.(748-750)GTG>GTC	62	62			ovary(2)|breast(2)	4	Broad	melanocortin 3 receptor			54824649		0.597	ENSG00000124089	9192	g.chr20:54824649G>C	activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding							-27.200809	KEEP	3	0	-1	75	62	3	0	-1	6.60637	75	62	0.022556	1	0	0	0	0	0	0	1	0	--	--		0	C				271	GBM-76-4932-TP	p.V250V	G	TCCTGGGCGTGTTCATCTTCT	NM_019888	NP_063941	54824649	P41968	MC3R_HUMAN	0	Colorectal(105;0.202)		1	862	+	C	C			Silent	287			Helical; Name=6; (Potential).			
MC3R	4159		GRCh37	20	54824818	54824818	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000243911.2:c.919C>T	p.Arg307Cys	p.R307C	ENST00000243911	NM_019888.3	307	Cgc/Tgc	0																																																																																																																																																																																																																																												
MC4R	0	broad.mit.edu	GRCh37	18	58039563	58039563	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs142837166		TCGA-28-5214-01	TCGA-28-5214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299766.3:c.20G>A	p.Arg7His	p.R7H	ENST00000299766	NM_005912.2	7	cGt/cAt	0	T:0.0005		1			T	R/H	uc002lie.1	protein_coding	YES	CCDS11976.1			20/999									lung(1)	1	c.(19-21)CGT>CAT			hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF6,Prints_domain:PR01062	melanocortin 4 receptor			T:0	ENSP00000299766		1-Jan	4.12E-05	0.000533							rs142837166,COSM3403596	1-Jan	common_variant		ENST00000299766	Transcript	1		feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding	ENSG00000166603	g.chr18:58039563C>T	6932			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=MC4R_HUMAN&rb=1&re=60&var=R7H	NA	getma.org/?cm=var&var=hg19,18,58039563,C,T&fts=all	R7H	--	--	1																																			0,1	1		benign(0)	p.R7H	NM_005912	NP_005903		tolerated_low_confidence(0.9)	0,1	MC4R_HUMAN	MC4R	HGNC	P32245	MC4R_HUMAN			K4N7A9_HUMAN,A0N0W8_HUMAN		1	439	-		Colorectal(73;0.0946)	UPI000013E5E3	7			Extracellular (Potential).		SNV	MC4R,missense_variant,p.Arg7His,ENST00000299766,NM_005912.2;	uc002lie.1	c.20G>A	439/1438	1	1			c.20G>A						18	SNP	c.(19-21)CGT>CAT	16	16			lung(1)	1	Broad	melanocortin 4 receptor			58039563		0.537	ENSG00000166603	9193	g.chr18:58039563C>T	feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding							103.716036	KEEP	22	19	-1	43	31	22	19	-1	105.807308	43	31	0.351852	1	0	0	0	0	1	0	0	0	--	--		0	T				221	GBM-28-5214-TP	p.R7H	C	GTGCATCCCACGGTGGGTGGA	NM_005912	NP_005903	58039563	P32245	MC4R_HUMAN	0			1	439	-	T	T		Colorectal(73;0.0946)	Missense_Mutation	7			Extracellular (Potential).			
MC4R	4160		GRCh37	18	58039346	58039346	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000299766.3:c.237G>A	p.Met79Ile	p.M79I	ENST00000299766	NM_005912.2	79	atG/atA	0																																																																																																																																																																																																																																												
MC5R	4161	broad.mit.edu	GRCh37	18	13826256	13826256	+	synonymous_variant	Silent	SNP	C	C	T	rs45575841	byFrequency	TCGA-06-0749-01	TCGA-06-0749-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324750.3:c.492C>T	p.Ala164=	p.A164=	ENST00000324750	NM_005913.2	164	gcC/gcT	0	T:0.0002	T:0	1	T:0.0014		T	A	uc010xaf.1	protein_coding	YES	CCDS11868.1			492/978									ovary(3)|lung(2)|breast(1)	6	c.(490-492)GCC>GCT			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR22750:SF5,hmmpanther:PTHR22750,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	melanocortin 5 receptor		T:0	T:0.0005	ENSP00000318077	T:0	1-Jan	0.000338	0.000192	0.000173		0.000151	0.00054			rs45575841,COSM3403439	1-Jan	common_variant		ENST00000324750	Transcript		T:0.0002	G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	ENSG00000176136	g.chr18:13826256C>T	6933			LOW								--	--	1																																			0,1	1			p.A164A	NM_005913	NP_005904	T:0		0,1	MC5R_HUMAN	MC5R	HGNC	P33032	MC5R_HUMAN			K7ER30_HUMAN		1	492	+			UPI0000050405	164			Helical; Name=4; (Potential).		SNV	MC5R,synonymous_variant,p.=,ENST00000324750,NM_005913.2;MC5R,synonymous_variant,p.=,ENST00000589410,;AP001525.1,upstream_gene_variant,,ENST00000390194,;	uc010xaf.1	c.492C>T	714/1319	2	2			c.492C>T						18	SNP	c.(490-492)GCC>GCT	34	34			ovary(3)|lung(2)|breast(1)	6	Broad	melanocortin 5 receptor			13826256		0.572	ENSG00000176136	9194	g.chr18:13826256C>T	G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding							-78.099556	KEEP	11	3	-1	249	181	11	3	-1	24.88403	249	181	0.030516	1	0	0	0	0	0	0	1	0	--	--		0	T				69	GBM-06-0749-TP	p.A164A	C	CCATCATCGCCGGCATCTGGG	NM_005913	NP_005904	13826256	P33032	MC5R_HUMAN	0			1	492	+	T	T			Silent	164			Helical; Name=4; (Potential).			
MC5R	0	broad.mit.edu	GRCh37	18	13826367	13826367	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-12-5301-01	TCGA-12-5301-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324750.3:c.603G>T	p.Leu201=	p.L201=	ENST00000324750	NM_005913.2	201	ctG/ctT	0			1			T	L	uc010xaf.1	protein_coding	YES	CCDS11868.1			603/978									ovary(3)|lung(2)|breast(1)	6	c.(601-603)CTG>CTT			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR22750:SF5,hmmpanther:PTHR22750,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00535	melanocortin 5 receptor				ENSP00000318077		1-Jan									COSM3403440	1-Jan	.		ENST00000324750	Transcript			G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	ENSG00000176136	g.chr18:13826367G>T	6933			LOW								--	--	1																																			1	1			p.L201L	NM_005913	NP_005904			1	MC5R_HUMAN	MC5R	HGNC	P33032	MC5R_HUMAN			K7ER30_HUMAN		1	603	+			UPI0000050405	201			Helical; Name=5; (Potential).		SNV	MC5R,synonymous_variant,p.=,ENST00000324750,NM_005913.2;MC5R,downstream_gene_variant,,ENST00000589410,;AP001525.1,upstream_gene_variant,,ENST00000390194,;	uc010xaf.1	c.603G>T	825/1319	1	1			c.603G>T						18	SNP	c.(601-603)CTG>CTT	2	2			ovary(3)|lung(2)|breast(1)	6	Broad	melanocortin 5 receptor			13826367		0.587	ENSG00000176136	9194	g.chr18:13826367G>T	G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding							767.63557	KEEP	175	219	0.444162437	297	309	175	219	0.444162437	775.19589	297	309	0.392473	1	0	0	0	0	0	0	1	0	--	--		0	T				131	GBM-12-5301-TP	p.L201L	G	TGTTCCTCCTGGTGTCTCTGT	NM_005913	NP_005904	13826367	P33032	MC5R_HUMAN	0			1	603	+	T	T			Silent	201			Helical; Name=5; (Potential).			
MC5R	0	broad.mit.edu	GRCh37	18	13826447	13826447	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324750.3:c.683C>T	p.Ala228Val	p.A228V	ENST00000324750	NM_005913.2	228	gCg/gTg	0			1			T	A/V	uc010xaf.1	protein_coding	YES	CCDS11868.1			683/978									ovary(3)|lung(2)|breast(1)	6	c.(682-684)GCG>GTG			PROSITE_profiles:PS50262,hmmpanther:PTHR22750:SF5,hmmpanther:PTHR22750,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01063	melanocortin 5 receptor				ENSP00000318077		1-Jan									COSM3403441	1-Jan	.		ENST00000324750	Transcript			G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	ENSG00000176136	g.chr18:13826447C>T	6933			MODERATE		-0.94	neutral	getma.org/?cm=msa&ty=f&p=MC5R_HUMAN&rb=53&re=295&var=A228V	getma.org/pdb.php?prot=MC5R_HUMAN&from=53&to=295&var=A228V	getma.org/?cm=var&var=hg19,18,13826447,C,T&fts=all	A228V	--	--	1																																			1	1		benign(0.001)	p.A228V	NM_005913	NP_005904		tolerated(1)	1	MC5R_HUMAN	MC5R	HGNC	P33032	MC5R_HUMAN			K7ER30_HUMAN		1	683	+			UPI0000050405	228	ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1).		Cytoplasmic (Potential).		SNV	MC5R,missense_variant,p.Ala228Val,ENST00000324750,NM_005913.2;MC5R,downstream_gene_variant,,ENST00000589410,;AP001525.1,upstream_gene_variant,,ENST00000390194,;	uc010xaf.1	c.683C>T	905/1319	1	1			c.683C>T						18	SNP	c.(682-684)GCG>GTG	11	11			ovary(3)|lung(2)|breast(1)	6	Broad	melanocortin 5 receptor			13826447		0.612	ENSG00000176136	9194	g.chr18:13826447C>T	G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding							300.538216	KEEP	61	58	-1	113	122	61	58	-1	308.657517	113	122	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	T				230	GBM-32-1979-TP	p.A228V	C	GCCAGCTCTGCGCGGCAGAGG	NM_005913	NP_005904	13826447	P33032	MC5R_HUMAN	0			1	683	+	T	T			Missense_Mutation	228	ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1).		Cytoplasmic (Potential).			
MC5R	0	broad.mit.edu	GRCh37	18	13826125	13826125	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-4935-01	TCGA-76-4935-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324750.3:c.361A>G	p.Met121Val	p.M121V	ENST00000324750	NM_005913.2	121	Atg/Gtg	0			1			G	M/V	uc010xaf.1	protein_coding	YES	CCDS11868.1			361/978									ovary(3)|lung(2)|breast(1)	6	c.(361-363)ATG>GTG			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR22750:SF5,hmmpanther:PTHR22750,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00534	melanocortin 5 receptor				ENSP00000318077		1-Jan									COSM3403438	1-Jan	.		ENST00000324750	Transcript			G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	ENSG00000176136	g.chr18:13826125A>G	6933			MODERATE		1.8	low	getma.org/?cm=msa&ty=f&p=MC5R_HUMAN&rb=53&re=295&var=M121V	getma.org/pdb.php?prot=MC5R_HUMAN&from=53&to=295&var=M121V	getma.org/?cm=var&var=hg19,18,13826125,A,G&fts=all	M121V	--	--	1																																			1	1		benign(0.254)	p.M121V	NM_005913	NP_005904		tolerated(0.1)	1	MC5R_HUMAN	MC5R	HGNC	P33032	MC5R_HUMAN			K7ER30_HUMAN		1	361	+			UPI0000050405	121			Helical; Name=3; (Potential).		SNV	MC5R,missense_variant,p.Met121Val,ENST00000324750,NM_005913.2;MC5R,missense_variant,p.Met121Val,ENST00000589410,;AP001525.1,upstream_gene_variant,,ENST00000390194,;	uc010xaf.1	c.361A>G	583/1319	4	4			c.361A>G						18	SNP	c.(361-363)ATG>GTG	25	25			ovary(3)|lung(2)|breast(1)	6	Broad	melanocortin 5 receptor			13826125		0.517	ENSG00000176136	9194	g.chr18:13826125A>G	G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding							-31.735259	KEEP	4	0	-1	76	88	4	0	-1	6.570958	76	88	0.025974	1	0	0	0	0	1	0	0	0	--	--		0	G				273	GBM-76-4935-TP	p.M121V	A	GTTTGACTCCATGATCTGCAT	NM_005913	NP_005904	13826125	P33032	MC5R_HUMAN	0			1	361	+	G	G			Missense_Mutation	121			Helical; Name=3; (Potential).			
MCAT	0	broad.mit.edu	GRCh37	22	43538975	43538975	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01	TCGA-12-1597-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290429.6:c.380C>T	p.Ala127Val	p.A127V	ENST00000290429	NM_173467.4	127	gCa/gTa	0			1			A	A/V	uc003bdl.1	protein_coding	YES	CCDS33660.1			380/1173									ovary(1)	1	c.(379-381)GCA>GTA			Gene3D:3.40.366.10,Pfam_domain:PF00698,hmmpanther:PTHR10982,SMART_domains:SM00827,Superfamily_domains:SSF52151	mitochondrial malonyltransferase isoform a				ENSP00000290429		4-Jan									COSM3405700	4-Jan	.		ENST00000290429	Transcript			fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding	ENSG00000100294	g.chr22:43538975G>A	29622			MODERATE		-0.14	neutral	getma.org/?cm=msa&ty=f&p=FABD_HUMAN&rb=64&re=379&var=A127V	getma.org/pdb.php?prot=FABD_HUMAN&from=64&to=379&var=A127V	getma.org/?cm=var&var=hg19,22,43538975,G,A&fts=all	A127V	--	--	1																																		MCAT_uc003bdm.1_Missense_Mutation_p.A127V	1	1		benign(0.185)	p.A127V	NM_173467	NP_775738		tolerated(0.11)	1	FABD_HUMAN	MCAT	HGNC	Q8IVS2	FABD_HUMAN					1	429	-		Ovarian(80;0.0694)	UPI000003B003	127					SNV	MCAT,missense_variant,p.Ala127Val,ENST00000290429,NM_173467.4;MCAT,missense_variant,p.Ala127Val,ENST00000327555,NM_014507.3;MCAT,upstream_gene_variant,,ENST00000608052,;MCAT,non_coding_transcript_exon_variant,,ENST00000464244,;	uc003bdl.1	c.380C>T	426/2056	2	2			c.380C>T						22	SNP	c.(379-381)GCA>GTA	35	35			ovary(1)	1	Broad	mitochondrial malonyltransferase isoform a			43538975		0.682	ENSG00000100294	9199	g.chr22:43538975G>A	fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding							11.265216	KEEP	5	2	-1	6	7	5	2	-1	12.066553	6	7	0.277778	1	0	0	0	0	1	0	0	0	--	--		0	A			MCAT_uc003bdm.1_Missense_Mutation_p.A127V	124	GBM-12-1597-TP	p.A127V	G	GGCCAGCGATGCCACGAAGAT	NM_173467	NP_775738	43538975	Q8IVS2	FABD_HUMAN	0			1	429	-	A	A		Ovarian(80;0.0694)	Missense_Mutation	127						
MCC	0	broad.mit.edu	GRCh37	5	112824048	112824049	+	inframe_insertion	In_Frame_Ins	INS	-	-	GCC			TCGA-12-0821-01	TCGA-12-0821-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408903.3:c.61_63dupGGC	p.Gly21dup	p.G21dup	ENST00000408903	NM_001085377.1	21	-/GGC	0		GCC:0.0227	1	GCC:0.3487		GCC	-/G	uc003kql.3	protein_coding	YES	CCDS43351.1			63-64/3060									ovary(1)	1	c.(61-66)insGGC			Low_complexity_(Seg):seg,hmmpanther:PTHR23347,hmmpanther:PTHR23347:SF4	mutated in colorectal cancers isoform 1		GCC:0.5208		ENSP00000386227	GCC:0.3668	19-Jan									rs531679771,COSM1486215	19-Jan	.		ENST00000408903	Transcript		GCC:0.3321	negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	ENSG00000171444	g.chr5:112824048_112824049insGCC	6935			MODERATE								--	--	1																																			0,1	1			p.21_22insG	NM_001085377	NP_001078846	GCC:0.5082		0,1	CRCM_HUMAN	MCC	HGNC	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	D6REY2_HUMAN		1	479_480	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	UPI00015E06EA	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					insertion	MCC,inframe_insertion,p.Gly21dup,ENST00000408903,NM_001085377.1;MCC,non_coding_transcript_exon_variant,,ENST00000511242,;	uc003kql.3	c.63_64insGGC	479-480/3476	5	5			c.63_64insGGC						5	INS	c.(61-66)insGGC	32	32			ovary(1)	1	Broad	mutated in colorectal cancers isoform 1			112824049		0.391	ENSG00000171444	9200	g.chr5:112824048_112824049insGCC	negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			12			12														0.56	1	0	0	1	1	0	0	0	0	--	--		0	GCC				123	GBM-12-0821-TP	p.21_22insG	-	ctgctgccgctgccgccgccgc	NM_001085377	NP_001078846	112824048	P23508	CRCM_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	1	479_480	-	GCC	GCC		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	In_Frame_Ins	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						
MCC	4163		GRCh37	5	112824054	112824054	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000408903.3:c.58G>A	p.Gly20Ser	p.G20S	ENST00000408903	NM_001085377.1	20	Ggc/Agc	0																																																																																																																																																																																																																																												
MCCC1	0	broad.mit.edu	GRCh37	3	182775185	182775185	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-14-4157-01	TCGA-14-4157-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265594.4:c.787G>C	p.Asp263His	p.D263H	ENST00000265594	NM_020166.3	263	Gat/Cat	0			1			G	D/H	uc003fle.2	protein_coding	YES	CCDS3241.1			787/2178									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(787-789)GAT>CAT			PROSITE_profiles:PS50975,PROSITE_profiles:PS50979,hmmpanther:PTHR18866,hmmpanther:PTHR18866:SF76,Gene3D:3.30.470.20,Pfam_domain:PF02786,Superfamily_domains:SSF56059	methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	Biotin(DB00121)			ENSP00000265594		19-Aug									COSM3408459	19-Aug	.		ENST00000265594	Transcript	1		biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	ENSG00000078070	g.chr3:182775185C>G	6936			MODERATE		4.585	high	getma.org/?cm=msa&ty=f&p=MCCA_HUMAN&rb=163&re=371&var=D263H	getma.org/pdb.php?prot=MCCA_HUMAN&from=163&to=371&var=D263H	getma.org/?cm=var&var=hg19,3,182775185,C,G&fts=all	D263H	--	--	1																																		MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Missense_Mutation_p.D146H|MCCC1_uc003flg.2_Missense_Mutation_p.D154H|MCCC1_uc011bqp.1_Missense_Mutation_p.D216H|MCCC1_uc011bqq.1_Missense_Mutation_p.D154H	1	1		probably_damaging(1)	p.D263H	NM_020166	NP_064551		deleterious(0)	1	MCCA_HUMAN	MCCC1	HGNC	Q96RQ3	MCCA_HUMAN	all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		F5GYT8_HUMAN,F2Z3E2_HUMAN,E9PHF7_HUMAN		8	924	-	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		UPI000013D646	263			Biotin carboxylation.|ATP-grasp.		SNV	MCCC1,missense_variant,p.Asp154His,ENST00000492597,;MCCC1,missense_variant,p.Asp263His,ENST00000265594,NM_020166.3;MCCC1,missense_variant,p.Asp216His,ENST00000476176,;MCCC1,missense_variant,p.Asp128His,ENST00000539926,;MCCC1,missense_variant,p.Asp225His,ENST00000497959,;MCCC1,3_prime_UTR_variant,,ENST00000497830,;MCCC1,3_prime_UTR_variant,,ENST00000495767,;	uc003fle.2	c.787G>C	934/2545	3	3			c.787G>C						3	SNP	c.(787-789)GAT>CAT	63	63			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)		Biotin(DB00121)	182775185		0.413	ENSG00000078070	9201	g.chr3:182775185C>G	biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity							0.322679	KEEP	0	2	-1	20	16	0	2	-1	6.433945	20	16	0.064516	1	0	0	0	0	1	0	0	0	--	--		0	G			MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Missense_Mutation_p.D146H|MCCC1_uc003flg.2_Missense_Mutation_p.D154H|MCCC1_uc011bqp.1_Missense_Mutation_p.D216H|MCCC1_uc011bqq.1_Missense_Mutation_p.D154H	152	GBM-14-4157-TP	p.D263H	C	CCATGGTGATCACCAAACACC	NM_020166	NP_064551	182775185	Q96RQ3	MCCA_HUMAN	0	all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		8	924	-	G	G	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		Missense_Mutation	263			Biotin carboxylation.|ATP-grasp.			
MCCC2	0	broad.mit.edu	GRCh37	5	70945048	70945048	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-1830-01	TCGA-27-1830-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340941.6:c.1341C>T	p.Ala447=	p.A447=	ENST00000340941	NM_022132.4	447	gcC/gcT	0		T:0	1	T:0		T	A	uc003kbs.3	protein_coding	YES	CCDS34184.1			1341/1692									ovary(1)	1	c.(1339-1341)GCC>GCT			PROSITE_profiles:PS50989,hmmpanther:PTHR22855,hmmpanther:PTHR22855:SF13,Pfam_domain:PF01039,Gene3D:3.90.226.10,Superfamily_domains:SSF52096	methylcrotonoyl-Coenzyme A carboxylase 2 (beta)	Biotin(DB00121)	T:0.001		ENSP00000343657	T:0	14/17	6.59E-05			0.000116		7.49E-05		0.000121	rs548725229,COSM3410389	14/17	.		ENST00000340941	Transcript	1	T:0.0002	leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity	ENSG00000131844	g.chr5:70945048C>T	6937			LOW								--	--	1																																		MCCC2_uc003kbt.3_RNA	0,1	1			p.A447A	NM_022132	NP_071415	T:0		0,1	MCCB_HUMAN	MCCC2	HGNC	Q9HCC0	MCCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)			14	1479	+		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)	UPI000012ED69	447			Carboxyltransferase.		SNV	MCCC2,synonymous_variant,p.=,ENST00000340941,NM_022132.4;MCCC2,synonymous_variant,p.=,ENST00000323375,;MCCC2,synonymous_variant,p.=,ENST00000509539,;MCCC2,3_prime_UTR_variant,,ENST00000512218,;	uc003kbs.3	c.1341C>T	1470/3665	2	2			c.1341C>T						5	SNP	c.(1339-1341)GCC>GCT	45	45			ovary(1)	1	Broad	methylcrotonoyl-Coenzyme A carboxylase 2 (beta)		Biotin(DB00121)	70945048		0.463	ENSG00000131844	9202	g.chr5:70945048C>T	leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity							-34.603932	KEEP	3	1	-1	94	86	3	1	-1	6.844348	94	86	0.024242	1	0	0	0	0	0	0	1	0	--	--		0	T			MCCC2_uc003kbt.3_RNA	189	GBM-27-1830-TP	p.A447A	C	CCTATGGAGCCGGAAACTATG	NM_022132	NP_071415	70945048	Q9HCC0	MCCB_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	14	1479	+	T	T		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)	Silent	447			Carboxyltransferase.			
MCF2	4168	broad.mit.edu	GRCh37	X	138679647	138679647	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-2562-01	TCGA-06-2562-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000519895.1:c.2255T>C	p.Met752Thr	p.M752T	ENST00000519895	NM_001171876.1	752	aTg/aCg	0			1			G	M/T	uc004fau.2	protein_coding		CCDS14667.1			2027/2778								p.M676I(1)	lung(1)|pleura(1)	2	c.(2026-2028)ATG>ACG			hmmpanther:PTHR22826:SF109,hmmpanther:PTHR22826,Gene3D:1.20.900.10,Superfamily_domains:SSF48065	MCF.2 cell line derived transforming sequence				ENSP00000359608		18/25									COSM1465992,COSM1465993,COSM2152781,COSM1465991	18/25	.		ENST00000370576	Transcript			apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	ENSG00000101977	g.chrX:138679647A>G	6940			MODERATE		3.515	high	getma.org/?cm=msa&ty=f&p=MCF2_HUMAN&rb=675&re=810&var=M676T	getma.org/pdb.php?prot=MCF2_HUMAN&from=675&to=810&var=M676T	getma.org/?cm=var&var=hg19,X,138679647,A,G&fts=all	M676T	--	--	1																																		MCF2_uc004fav.2_Missense_Mutation_p.M692T|MCF2_uc011mwl.1_Missense_Mutation_p.M653T|MCF2_uc010nsh.1_Missense_Mutation_p.M676T|MCF2_uc011mwm.1_Missense_Mutation_p.M637T|MCF2_uc011mwn.1_Missense_Mutation_p.M821T|MCF2_uc004faw.2_Missense_Mutation_p.M736T|MCF2_uc011mwo.1_Missense_Mutation_p.M752T	1,1,1,1			probably_damaging(0.985)	p.M676T	NM_005369	NP_005360		deleterious(0)	1,1,1,1	MCF2_HUMAN	MCF2	HGNC	P10911	MCF2_HUMAN			Q5JYJ5_HUMAN		18	2321	-	Acute lymphoblastic leukemia(192;0.000127)		UPI000006CDFC	676					SNV	MCF2,missense_variant,p.Met736Thr,ENST00000520602,;MCF2,missense_variant,p.Met821Thr,ENST00000370578,;MCF2,missense_variant,p.Met736Thr,ENST00000414978,NM_001099855.1;MCF2,missense_variant,p.Met676Thr,ENST00000370576,NM_005369.4,NM_001171879.1;MCF2,missense_variant,p.Met637Thr,ENST00000536274,NM_001171877.1,NM_001171878.1;MCF2,missense_variant,p.Met752Thr,ENST00000519895,NM_001171876.1;MCF2,missense_variant,p.Met692Thr,ENST00000338585,;MCF2,missense_variant,p.Met676Thr,ENST00000370573,;MCF2,missense_variant,p.Met180Thr,ENST00000437564,;MCF2,missense_variant,p.Met279Thr,ENST00000446225,;AL033403.1,downstream_gene_variant,,ENST00000401295,;	uc004fau.2	c.2027T>C	2237/3688	4	4			c.2027T>C						23	SNP	c.(2026-2028)ATG>ACG	31	31		p.M676I(1)	lung(1)|pleura(1)	2	Broad	MCF.2 cell line derived transforming sequence			138679647		0.259	ENSG00000101977	9205	g.chrX:138679647A>G	apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			693			693	322.373178	KEEP	35	58	-1	12	21	35	58	-1	329.065085	12	21	0.745902	1	0	0	0	0	1	0	0	0	--	--		0	G			MCF2_uc004fav.2_Missense_Mutation_p.M692T|MCF2_uc011mwl.1_Missense_Mutation_p.M653T|MCF2_uc010nsh.1_Missense_Mutation_p.M676T|MCF2_uc011mwm.1_Missense_Mutation_p.M637T|MCF2_uc011mwn.1_Missense_Mutation_p.M821T|MCF2_uc004faw.2_Missense_Mutation_p.M736T|MCF2_uc011mwo.1_Missense_Mutation_p.M752T	85	GBM-06-2562-TP	p.M676T	A	AATCTGATGCATAGAATCATT	NM_005369	NP_005360	138679647	P10911	MCF2_HUMAN	0			18	2321	-	G	G	Acute lymphoblastic leukemia(192;0.000127)		Missense_Mutation	676						
MCF2	0	broad.mit.edu	GRCh37	X	138668562	138668562	+	synonymous_variant	Silent	SNP	C	C	T	rs142128026	byFrequency	TCGA-26-6174-01	TCGA-26-6174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370576.4:c.2607G>A	p.Ala869=	p.A869=	ENST00000370576	NM_005369.4	869	gcG/gcA	0	T:0	T:0.0008	1	T:0		T	A	uc004fau.2	protein_coding		CCDS14667.1			2607/2778									lung(1)|pleura(1)	2	c.(2605-2607)GCG>GCA			hmmpanther:PTHR22826:SF109,hmmpanther:PTHR22826	MCF.2 cell line derived transforming sequence		T:0	T:0.0003	ENSP00000359608	T:0	23/25									rs142128026,COSM1257449,COSM3406007,COSM1257448	23/25	.		ENST00000370576	Transcript		T:0.0003	apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	ENSG00000101977	g.chrX:138668562C>T	6940			LOW								--	--	1																																		MCF2_uc004fav.2_Silent_p.A885A|MCF2_uc011mwl.1_Silent_p.A846A|MCF2_uc010nsh.1_Intron|MCF2_uc011mwm.1_Intron|MCF2_uc011mwn.1_Intron|MCF2_uc004faw.2_Silent_p.A929A|MCF2_uc011mwo.1_Silent_p.A945A	0,1,1,1				p.A869A	NM_005369	NP_005360	T:0		0,1,1,1	MCF2_HUMAN	MCF2	HGNC	P10911	MCF2_HUMAN			Q5JYJ5_HUMAN		23	2901	-	Acute lymphoblastic leukemia(192;0.000127)		UPI000006CDFC	869					SNV	MCF2,synonymous_variant,p.=,ENST00000520602,;MCF2,synonymous_variant,p.=,ENST00000370578,;MCF2,synonymous_variant,p.=,ENST00000414978,NM_001099855.1;MCF2,synonymous_variant,p.=,ENST00000370576,NM_005369.4,NM_001171879.1;MCF2,synonymous_variant,p.=,ENST00000519895,NM_001171876.1;MCF2,synonymous_variant,p.=,ENST00000338585,;MCF2,synonymous_variant,p.=,ENST00000437564,;MCF2,synonymous_variant,p.=,ENST00000446225,;MCF2,intron_variant,,ENST00000536274,NM_001171877.1,NM_001171878.1;MCF2,intron_variant,,ENST00000370573,;	uc004fau.2	c.2607G>A	2817/3688	2	2			c.2607G>A						23	SNP	c.(2605-2607)GCG>GCA	47	47			lung(1)|pleura(1)	2	Broad	MCF.2 cell line derived transforming sequence			138668562		0.413	ENSG00000101977	9205	g.chrX:138668562C>T	apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			693			693	82.191677	KEEP	22	13	-1	44	32	22	13	-1	84.996668	44	32	0.319588	1	0	0	0	0	0	0	1	0	--	--		0	T			MCF2_uc004fav.2_Silent_p.A885A|MCF2_uc011mwl.1_Silent_p.A846A|MCF2_uc010nsh.1_Intron|MCF2_uc011mwm.1_Intron|MCF2_uc011mwn.1_Intron|MCF2_uc004faw.2_Silent_p.A929A|MCF2_uc011mwo.1_Silent_p.A945A	188	GBM-26-6174-TP	p.A869A	C	CCTGAACTGACGCAATTGCCT	NM_005369	NP_005360	138668562	P10911	MCF2_HUMAN	0			23	2901	-	T	T	Acute lymphoblastic leukemia(192;0.000127)		Silent	869						
MCHR1	0	broad.mit.edu	GRCh37	22	41077826	41077826	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2629-01	TCGA-19-2629-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000249016.4:c.1163G>A	p.Arg388His	p.R388H	ENST00000249016	NM_005297.3	388	cGc/cAc	0			1			A	R/H	uc003ayz.2	protein_coding	YES	CCDS14004.1			1163/1269										0	c.(1162-1164)CGC>CAC			Prints_domain:PR00237,Prints_domain:PR01507,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF17	G protein-coupled receptor 24				ENSP00000249016		2-Feb	1.65E-05		8.67E-05					6.09E-05	rs199697488,COSM1172776	2-Feb	.		ENST00000249016	Transcript			elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity	ENSG00000128285	g.chr22:41077826G>A	4479			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=MCHR1_HUMAN&rb=381&re=422&var=R388H	NA	getma.org/?cm=var&var=hg19,22,41077826,G,A&fts=all	R388H	--	--	1																																		MCHR1_uc003aza.2_Missense_Mutation_p.R277H|uc003azb.1_RNA	0,1	1		possibly_damaging(0.818)	p.R388H	NM_005297	NP_005288		deleterious(0)	0,1	MCHR1_HUMAN	MCHR1	HGNC	Q99705	MCHR1_HUMAN			Q5IFI4_HUMAN		2	1431	+			UPI0000073C67	388			Cytoplasmic (Potential).		SNV	MCHR1,missense_variant,p.Arg388His,ENST00000249016,NM_005297.3;MCHR1,missense_variant,p.Arg262His,ENST00000381433,;MCHR1,non_coding_transcript_exon_variant,,ENST00000498400,;MCHR1,downstream_gene_variant,,ENST00000465662,;	uc003ayz.2	c.1163G>A	1859/2851	2	2			c.1163G>A						22	SNP	c.(1162-1164)CGC>CAC	26	26				0	Broad	G protein-coupled receptor 24			41077826		0.572	ENSG00000128285	9209	g.chr22:41077826G>A	elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity							35.346919	KEEP	11	14	-1	58	84	11	14	-1	53.579208	58	84	0.145695	1	0	0	0	0	1	0	0	0	--	--		0	A			MCHR1_uc003aza.2_Missense_Mutation_p.R277H|uc003azb.1_RNA	166	GBM-19-2629-TP	p.R388H	G	GAGACGTTCCGCAAACGCTTG	NM_005297	NP_005288	41077826	Q99705	MCHR1_HUMAN	0			2	1431	+	A	A			Missense_Mutation	388			Cytoplasmic (Potential).			
MCHR2	0	broad.mit.edu	GRCh37	6	100382322	100382322	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-2632-01	TCGA-32-2632-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281806.2:c.659T>C	p.Ile220Thr	p.I220T	ENST00000281806	NM_001040179.1	220	aTt/aCt	0			1			G	I/T	uc003pqh.1	protein_coding	YES	CCDS5044.1			659/1023									lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8	c.(658-660)ATT>ACT			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24230,hmmpanther:PTHR24230:SF7,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	melanin-concentrating hormone receptor 2				ENSP00000281806		6-May									COSM3410497,COSM3410498	6-May	.		ENST00000281806	Transcript				integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000152034	g.chr6:100382322A>G	20867			MODERATE		2.12	medium	getma.org/?cm=msa&ty=f&p=MCHR2_HUMAN&rb=51&re=306&var=I220T	getma.org/pdb.php?prot=MCHR2_HUMAN&from=51&to=306&var=I220T	getma.org/?cm=var&var=hg19,6,100382322,A,G&fts=all	I220T	--	--	1																																		MCHR2_uc003pqi.1_Missense_Mutation_p.I220T	1,1	1		benign(0.011)	p.I220T	NM_001040179	NP_001035269		tolerated(0.23)	1,1	MCHR2_HUMAN	MCHR2	HGNC	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)			5	974	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	UPI000003730F	220			Helical; Name=5; (Potential).		SNV	MCHR2,missense_variant,p.Ile220Thr,ENST00000281806,NM_001040179.1;MCHR2,missense_variant,p.Ile220Thr,ENST00000369212,NM_032503.2;	uc003pqh.1	c.659T>C	974/2368	4	4			c.659T>C						6	SNP	c.(658-660)ATT>ACT	29	29			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8	Broad	melanin-concentrating hormone receptor 2			100382322		0.279	ENSG00000152034	9210	g.chr6:100382322A>G		integral to membrane|plasma membrane	G-protein coupled receptor activity							-46.089281	KEEP	4	0	-1	109	114	4	0	-1	7.087004	109	114	0.019512	1	0	0	0	0	1	0	0	0	--	--		0	G			MCHR2_uc003pqi.1_Missense_Mutation_p.I220T	240	GBM-32-2632-TP	p.I220T	A	ATAGCATAAAATTAAAATATA	NM_001040179	NP_001035269	100382322	Q969V1	MCHR2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.0429)	5	974	-	G	G		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	Missense_Mutation	220			Helical; Name=5; (Potential).			
MCL1	4170	broad.mit.edu	GRCh37	1	150550855	150550856	+	frameshift_variant	Frame_Shift_Del	DEL	GA	GA	-			TCGA-06-0129-01	TCGA-06-0129-01	GA	GA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369026.2:c.800_801del	p.Leu267HisfsTer9	p.L267Hfs*9	ENST00000369026	NM_021960.4	267	cTC/c	0			1			-	L/X	uc001euz.2	protein_coding	YES	CCDS957.1			800-801/1053										0	c.(799-801)CTCfs			PROSITE_profiles:PS50062,hmmpanther:PTHR11256:SF6,hmmpanther:PTHR11256,PROSITE_patterns:PS01080,Pfam_domain:PF00452,Gene3D:1.10.437.10,SMART_domains:SM00337,Superfamily_domains:SSF56854,Prints_domain:PR01862	myeloid cell leukemia sequence 1 isoform 1				ENSP00000358022		3-Feb										3-Feb	.		ENST00000369026	Transcript			anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity	ENSG00000143384	g.chr1:150550855_150550856delGA	6943			HIGH								--	--	1																																		MCL1_uc010pch.1_Frame_Shift_Del_p.L157fs|MCL1_uc001eva.2_Intron		1			p.L267fs	NM_021960	NP_068779				MCL1_HUMAN	MCL1	HGNC	Q07820	MCL1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		B4DG83_HUMAN		2	930_931	-	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UPI000006D775	267			BH1.		deletion	MCL1,frameshift_variant,p.Leu267HisfsTer9,ENST00000369026,NM_021960.4,NM_001197320.1;MCL1,intron_variant,,ENST00000307940,NM_182763.2;MCL1,non_coding_transcript_exon_variant,,ENST00000464132,;	uc001euz.2	c.800_801delTC	860-861/3932	5	5			c.800_801delTC						1	DEL	c.(799-801)CTCfs	41	41				0	Broad	myeloid cell leukemia sequence 1 isoform 1			150550856		0.436	ENSG00000143384	9211	g.chr1:150550855_150550856delGA	anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity			115			115														0.18	1	1	0	1	0	0	0	0	0	--	--		0	-			MCL1_uc010pch.1_Frame_Shift_Del_p.L157fs|MCL1_uc001eva.2_Intron	15	GBM-06-0129-TP	p.L267fs	GA	CAAAAGAAATGAGAGTCACAAT	NM_021960	NP_068779	150550855	Q07820	MCL1_HUMAN	0	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		2	930_931	-	-	-	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		Frame_Shift_Del	267			BH1.			
MCM2	4171	broad.mit.edu	GRCh37	3	127318380	127318380	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265056.7:c.226G>A	p.Gly76Ser	p.G76S	ENST00000265056	NM_004526.3	76	Ggc/Agc	0			1			A	G/S	uc003ejp.2	protein_coding	YES	CCDS3043.1			226/2715									ovary(3)|skin(1)	4	c.(226-228)GGC>AGC			Pfam_domain:PF12619,Low_complexity_(Seg):seg	minichromosome maintenance complex component 2				ENSP00000265056		16-Feb									COSM2150442	16-Feb	.		ENST00000265056	Transcript			cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	ENSG00000073111	g.chr3:127318380G>A	6944			MODERATE		0.61	neutral	getma.org/?cm=msa&ty=f&p=MCM2_HUMAN&rb=46&re=182&var=G76S	NA	getma.org/?cm=var&var=hg19,3,127318380,G,A&fts=all	G76S	--	--	1																																		MCM2_uc011bkm.1_5'UTR|MCM2_uc010hsl.2_RNA	1	1		benign(0.257)	p.G76S	NM_004526	NP_004517		tolerated(0.11)	1	MCM2_HUMAN	MCM2	HGNC	P49736	MCM2_HUMAN			Q9BWF4_HUMAN,C9JZ21_HUMAN,C9J013_HUMAN		2	283	+			UPI00001A3E4E	76			Interaction with MYST2 (By similarity).		SNV	MCM2,missense_variant,p.Gly76Ser,ENST00000265056,NM_004526.3;MCM2,missense_variant,p.Gly67Ser,ENST00000480910,;MCM2,missense_variant,p.Gly67Ser,ENST00000472731,;TPRA1,upstream_gene_variant,,ENST00000490643,;TPRA1,upstream_gene_variant,,ENST00000462228,;MCM2,upstream_gene_variant,,ENST00000468659,;MCM2,missense_variant,p.Gly76Ser,ENST00000474964,;MCM2,missense_variant,p.Gly21Ser,ENST00000477668,;	uc003ejp.2	c.226G>A	470/3619	2	2			c.226G>A						3	SNP	c.(226-228)GGC>AGC	43	43			ovary(3)|skin(1)	4	Broad	minichromosome maintenance complex component 2			127318380		0.567	ENSG00000073111	9213	g.chr3:127318380G>A	cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding							116.209939	KEEP	20	16	-1	17	38	20	16	-1	116.860089	17	38	0.406977	1	0	0	0	0	1	0	0	0	--	--		0	A			MCM2_uc011bkm.1_5'UTR|MCM2_uc010hsl.2_RNA	39	GBM-06-0184-TP	p.G76S	G	CATTGGAGATGGCATGGAAAG	NM_004526	NP_004517	127318380	P49736	MCM2_HUMAN	0			2	283	+	A	A			Missense_Mutation	76			Interaction with MYST2 (By similarity).			
MCM3	0	broad.mit.edu	GRCh37	6	52141940	52141940	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-19-4068-01	TCGA-19-4068-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000229854.7:c.1090C>T	p.Arg364Ter	p.R364*	ENST00000229854		364	Cga/Tga	0			1			A	R/*	uc003pan.1	protein_coding					1090/2427									ovary(1)|lung(1)|skin(1)	3	c.(1090-1092)CGA>TGA			Gene3D:3.40.50.300,Pfam_domain:PF00493,PROSITE_profiles:PS50051,hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF72,SMART_domains:SM00350,SMART_domains:SM00382,Superfamily_domains:SSF52540	minichromosome maintenance complex component 3				ENSP00000229854		17-Aug	8.24E-06	9.65E-05							rs769266579,COSM2156484,COSM3411194	17-Aug	.		ENST00000229854	Transcript			cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	ENSG00000112118	g.chr6:52141940G>A	6945			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,6,52141940,G,A&fts=all	R364*	--	--	1																																		MCM3_uc011dwu.1_Nonsense_Mutation_p.R318*	0,1,1				p.R364*	NM_002388	NP_002379			0,1,1	MCM3_HUMAN	MCM3	HGNC	P25205	MCM3_HUMAN			Q8NHX6_HUMAN		8	1200	-	Lung NSC(77;0.0931)		UPI000012ED97	364			MCM.		SNV	MCM3,stop_gained,p.Arg409Ter,ENST00000596288,NM_002388.4;MCM3,stop_gained,p.Arg364Ter,ENST00000229854,;MCM3,stop_gained,p.Arg318Ter,ENST00000419835,NM_001270472.1;MCM3,upstream_gene_variant,,ENST00000421471,;MCM3,non_coding_transcript_exon_variant,,ENST00000476448,;MCM3,downstream_gene_variant,,ENST00000596983,;	uc003pan.1	c.1090C>T	1167/3083	5	2			c.1090C>T						6	SNP	c.(1090-1092)CGA>TGA	24	24			ovary(1)|lung(1)|skin(1)	3	Broad	minichromosome maintenance complex component 3			52141940		0.597	ENSG00000112118	9214	g.chr6:52141940G>A	cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding							95.459926	KEEP	10	27	-1	28	29	10	27	-1	96.604227	28	29	0.376471	1	0	0	0	0	0	1	0	0	--	--		0	A			MCM3_uc011dwu.1_Nonsense_Mutation_p.R318*	168	GBM-19-4068-TP	p.R364*	G	GGGATAGCTCGGGGTGCAGTG	NM_002388	NP_002379	52141940	P25205	MCM3_HUMAN	0			8	1200	-	A	A	Lung NSC(77;0.0931)		Nonsense_Mutation	364			MCM.			
MCM3	0	broad.mit.edu	GRCh37	6	52149470	52149470	+	start_lost	Translation_Start_Site	SNP	C	C	G			TCGA-26-5133-01	TCGA-26-5133-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000229854.7:c.3G>C	p.Met1?	p.M1?	ENST00000229854		1	atG/atC	0			1			G	M/I	uc003pan.1	protein_coding					27-Mar									ovary(1)|lung(1)|skin(1)	3	c.(1-3)ATG>ATC				minichromosome maintenance complex component 3				ENSP00000229854		17-Jan									COSM3411195,COSM3411196	17-Jan	.		ENST00000229854	Transcript			cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	ENSG00000112118	g.chr6:52149470C>G	6945			HIGH		0	NA	http://getma.org/?cm=msa&ty=f&p=MCM3_HUMAN&rb=1&re=200&var=M1I	NA	getma.org/?cm=var&var=hg19,6,52149470,C,G&fts=all	M1I	--	--	1																																		MCM3_uc011dwu.1_5'UTR	1,1			benign(0)	p.M1I	NM_002388	NP_002379		deleterious(0.05)	1,1	MCM3_HUMAN	MCM3	HGNC	P25205	MCM3_HUMAN			Q8NHX6_HUMAN		1	113	-	Lung NSC(77;0.0931)		UPI000012ED97	1					SNV	MCM3,start_lost,p.Met1?,ENST00000229854,;MCM3,missense_variant,p.Met46Ile,ENST00000596288,NM_002388.4;MCM3,5_prime_UTR_variant,,ENST00000419835,NM_001270472.1;MCM3,missense_variant,p.Met46Ile,ENST00000596983,;	uc003pan.1	c.3G>C	80/3083	4	4			c.3G>C						6	SNP	c.(1-3)ATG>ATC	32	32			ovary(1)|lung(1)|skin(1)	3	Broad	minichromosome maintenance complex component 3			52149470		0.642	ENSG00000112118	9214	g.chr6:52149470C>G	cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding							23.423852	KEEP	2	5	-1	12	8	2	5	-1	23.438359	12	8	0.466667	1	0	0	0	0	1	0	0	0	--	--		0	G			MCM3_uc011dwu.1_5'UTR	182	GBM-26-5133-TP	p.M1I	C	CGGTACCCGCCATGCCCGCTG	NM_002388	NP_002379	52149470	P25205	MCM3_HUMAN	0			1	113	-	G	G	Lung NSC(77;0.0931)		Missense_Mutation	1						
MCM4	4173	broad.mit.edu	GRCh37	8	48889249	48889249	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0648-01	TCGA-06-0648-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262105.2:c.2503A>G	p.Ile835Val	p.I835V	ENST00000262105	NM_005914.3	835	Att/Gtt	0			1			G	I/V	uc003xqk.1	protein_coding	YES	CCDS6143.1			2503/2592									ovary(2)|skin(2)	4	c.(2503-2505)ATT>GTT			hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF66	minichromosome maintenance complex component 4				ENSP00000262105		16/16	8.24E-06					1.50E-05			rs747765310,COSM2151362	16/16	.		ENST00000262105	Transcript	1		cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	ENSG00000104738	g.chr8:48889249A>G	6947			MODERATE		0.255	neutral	getma.org/?cm=msa&ty=f&p=MCM4_HUMAN&rb=771&re=863&var=I835V	NA	getma.org/?cm=var&var=hg19,8,48889249,A,G&fts=all	I835V	--	--	1																																		MCM4_uc003xql.1_Missense_Mutation_p.I835V|MCM4_uc011ldi.1_Missense_Mutation_p.I822V	0,1	1		benign(0.007)	p.I835V	NM_182746	NP_877423		tolerated(1)	0,1	MCM4_HUMAN	MCM4	HGNC	P33991	MCM4_HUMAN			E5RFR3_HUMAN,E5RFJ8_HUMAN,A4FS09_HUMAN		17	2598	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	UPI000013D25C	835					SNV	MCM4,missense_variant,p.Ile835Val,ENST00000262105,NM_005914.3;MCM4,missense_variant,p.Ile835Val,ENST00000523944,NM_182746.2;RNU6-519P,upstream_gene_variant,,ENST00000410590,;MCM4,non_coding_transcript_exon_variant,,ENST00000521151,;MCM4,downstream_gene_variant,,ENST00000521261,;MCM4,downstream_gene_variant,,ENST00000518382,;MCM4,downstream_gene_variant,,ENST00000523853,;	uc003xqk.1	c.2503A>G	2712/4183	3	3			c.2503A>G						8	SNP	c.(2503-2505)ATT>GTT	61	61			ovary(2)|skin(2)	4	Broad	minichromosome maintenance complex component 4			48889249		0.423	ENSG00000104738	9216	g.chr8:48889249A>G	cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			376			376	186.043408	KEEP	32	25	-1	35	34	32	25	-1	186.204797	35	34	0.458716	1	0	0	0	0	1	0	0	0	--	--		0	G			MCM4_uc003xql.1_Missense_Mutation_p.I835V|MCM4_uc011ldi.1_Missense_Mutation_p.I822V	61	GBM-06-0648-TP	p.I835V	A	CCCACAGGCAATTACTAAAGA	NM_182746	NP_877423	48889249	P33991	MCM4_HUMAN	0			17	2598	+	G	G		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	Missense_Mutation	835						
MCM4	4173	broad.mit.edu	GRCh37	8	48874694	48874694	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0743-01	TCGA-06-0743-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262105.2:c.317G>C	p.Gly106Ala	p.G106A	ENST00000262105	NM_005914.3	106	gGt/gCt	0			1			C	G/A	uc003xqk.1	protein_coding	YES	CCDS6143.1			317/2592									ovary(2)|skin(2)	4	c.(316-318)GGT>GCT				minichromosome maintenance complex component 4				ENSP00000262105		16-Mar									COSM3413045	16-Mar	.		ENST00000262105	Transcript	1		cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	ENSG00000104738	g.chr8:48874694G>C	6947			MODERATE		2.375	medium	getma.org/?cm=msa&ty=f&p=MCM4_HUMAN&rb=1&re=200&var=G106A	NA	getma.org/?cm=var&var=hg19,8,48874694,G,C&fts=all	G106A	--	--	1																																		PRKDC_uc003xqi.2_5'Flank|PRKDC_uc003xqj.2_5'Flank|PRKDC_uc011ldh.1_5'Flank|MCM4_uc003xql.1_Missense_Mutation_p.G106A|MCM4_uc011ldi.1_Missense_Mutation_p.G93A|MCM4_uc010lxw.1_Intron	1	1		benign(0.02)	p.G106A	NM_182746	NP_877423		deleterious(0.02)	1	MCM4_HUMAN	MCM4	HGNC	P33991	MCM4_HUMAN			E5RFR3_HUMAN,E5RFJ8_HUMAN,A4FS09_HUMAN		4	412	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	UPI000013D25C	106					SNV	MCM4,missense_variant,p.Gly106Ala,ENST00000262105,NM_005914.3;MCM4,missense_variant,p.Gly106Ala,ENST00000523944,NM_182746.2;MCM4,missense_variant,p.Gly56Ala,ENST00000519170,;MCM4,missense_variant,p.Gly106Ala,ENST00000518221,;PRKDC,upstream_gene_variant,,ENST00000314191,NM_006904.6;PRKDC,upstream_gene_variant,,ENST00000338368,NM_001081640.1;MCM4,upstream_gene_variant,,ENST00000520637,;PRKDC,upstream_gene_variant,,ENST00000540819,;PRKDC,upstream_gene_variant,,ENST00000523565,;PRKDC,upstream_gene_variant,,ENST00000518216,;MCM4,3_prime_UTR_variant,,ENST00000524086,;MCM4,non_coding_transcript_exon_variant,,ENST00000519138,;MCM4,non_coding_transcript_exon_variant,,ENST00000520934,;MCM4,downstream_gene_variant,,ENST00000520994,;	uc003xqk.1	c.317G>C	526/4183	4	4			c.317G>C						8	SNP	c.(316-318)GGT>GCT	35	35			ovary(2)|skin(2)	4	Broad	minichromosome maintenance complex component 4			48874694		0.527	ENSG00000104738	9216	g.chr8:48874694G>C	cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			376			376	-7.53747	KEEP	2	1	-1	30	40	2	1	-1	8.153808	30	40	0.042857	1	0	0	0	0	1	0	0	0	--	--		0	C			PRKDC_uc003xqi.2_5'Flank|PRKDC_uc003xqj.2_5'Flank|PRKDC_uc011ldh.1_5'Flank|MCM4_uc003xql.1_Missense_Mutation_p.G106A|MCM4_uc011ldi.1_Missense_Mutation_p.G93A|MCM4_uc010lxw.1_Intron	65	GBM-06-0743-TP	p.G106A	G	CCAAGAAGTGGTGTTAGGGGC	NM_182746	NP_877423	48874694	P33991	MCM4_HUMAN	0			4	412	+	C	C		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	Missense_Mutation	106						
MCM5	4174	broad.mit.edu	GRCh37	22	35802697	35802697	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216122.4:c.575C>T	p.Ala192Val	p.A192V	ENST00000216122	NM_006739.3	192	gCc/gTc	0			1			T	A/V	uc003anu.3	protein_coding	YES	CCDS13915.1			575/2205									ovary(1)	1	c.(574-576)GCC>GTC			hmmpanther:PTHR11630:SF68,hmmpanther:PTHR11630,SMART_domains:SM00350,Superfamily_domains:SSF50249	minichromosome maintenance complex component 5				ENSP00000216122		17-May									COSM3405642	17-May	.		ENST00000216122	Transcript			cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	ENSG00000100297	g.chr22:35802697C>T	6948			MODERATE		1.07	low	getma.org/?cm=msa&ty=f&p=MCM5_HUMAN&rb=1&re=200&var=A192V	NA	getma.org/?cm=var&var=hg19,22,35802697,C,T&fts=all	A192V	--	--	1																																		MCM5_uc010gwr.2_Missense_Mutation_p.P2S|MCM5_uc003anv.3_Missense_Mutation_p.A149V|MCM5_uc010gws.1_5'Flank	1	1		benign(0.003)	p.A192V	NM_006739	NP_006730		tolerated(0.41)	1	MCM5_HUMAN	MCM5	HGNC	P33992	MCM5_HUMAN			B1AHB2_HUMAN,B1AHB0_HUMAN		5	669	+			UPI000000D8F4	192					SNV	MCM5,missense_variant,p.Ala192Val,ENST00000216122,NM_006739.3;MCM5,missense_variant,p.Ala149Val,ENST00000382011,;MCM5,missense_variant,p.Ala224Val,ENST00000416905,;MCM5,missense_variant,p.Ala49Val,ENST00000444778,;MCM5,intron_variant,,ENST00000417343,;MCM5,upstream_gene_variant,,ENST00000465557,;MCM5,upstream_gene_variant,,ENST00000464908,;MCM5,upstream_gene_variant,,ENST00000493569,;MCM5,upstream_gene_variant,,ENST00000493076,;MCM5,downstream_gene_variant,,ENST00000451351,;	uc003anu.3	c.575C>T	729/3534	2	2			c.575C>T						22	SNP	c.(574-576)GCC>GTC	47	47			ovary(1)	1	Broad	minichromosome maintenance complex component 5			35802697		0.602	ENSG00000100297	9217	g.chr22:35802697C>T	cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding							-4.921854	KEEP	3	1	-1	17	41	3	1	-1	6.577692	17	41	0.054545	1	0	0	0	0	1	0	0	0	--	--		0	T			MCM5_uc010gwr.2_Missense_Mutation_p.P2S|MCM5_uc003anv.3_Missense_Mutation_p.A149V|MCM5_uc010gws.1_5'Flank	102	GBM-06-5858-TP	p.A192V	C	GAGGGCTATGCCCTGCCCAGG	NM_006739	NP_006730	35802697	P33992	MCM5_HUMAN	0			5	669	+	T	T			Missense_Mutation	192						
MCM5	0	broad.mit.edu	GRCh37	22	35796511	35796511	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216122.4:c.80G>A	p.Arg27His	p.R27H	ENST00000216122	NM_006739.3	27	cGc/cAc	0			1			A	R/H	uc003anu.3	protein_coding	YES	CCDS13915.1			80/2205									ovary(1)	1	c.(79-81)CGC>CAC			hmmpanther:PTHR11630:SF68,hmmpanther:PTHR11630,Gene3D:1ltlA01	minichromosome maintenance complex component 5				ENSP00000216122		17-Feb									rs367630495,COSM3405641	17-Feb	.		ENST00000216122	Transcript			cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	ENSG00000100297	g.chr22:35796511G>A	6948			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=MCM5_HUMAN&rb=1&re=200&var=R27H	NA	getma.org/?cm=var&var=hg19,22,35796511,G,A&fts=all	R27H	--	--	1																																		MCM5_uc010gwr.2_5'UTR|MCM5_uc003anv.3_Missense_Mutation_p.R27H	0,1	1		benign(0.002)	p.R27H	NM_006739	NP_006730		tolerated(0.15)	0,1	MCM5_HUMAN	MCM5	HGNC	P33992	MCM5_HUMAN			B1AHB2_HUMAN,B1AHB0_HUMAN		2	174	+			UPI000000D8F4	27					SNV	MCM5,missense_variant,p.Arg27His,ENST00000216122,NM_006739.3;MCM5,missense_variant,p.Arg27His,ENST00000382011,;MCM5,missense_variant,p.Arg27His,ENST00000416905,;MCM5,intron_variant,,ENST00000444778,;MCM5,intron_variant,,ENST00000417343,;MCM5,missense_variant,p.Arg27His,ENST00000451351,;	uc003anu.3	c.80G>A	234/3534	2	2			c.80G>A						22	SNP	c.(79-81)CGC>CAC	44	44			ovary(1)	1	Broad	minichromosome maintenance complex component 5			35796511		0.647	ENSG00000100297	9217	g.chr22:35796511G>A	cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding							-10.10689	KEEP	2	3	-1	43	43	2	3	-1	6.480668	43	43	0.051282	1	0	0	0	0	1	0	0	0	--	--		0	A			MCM5_uc010gwr.2_5'UTR|MCM5_uc003anv.3_Missense_Mutation_p.R27H	139	GBM-14-0817-TP	p.R27H	G	GGGCAGGCCCGCAAATCGCAG	NM_006739	NP_006730	35796511	P33992	MCM5_HUMAN	0			2	174	+	A	A			Missense_Mutation	27						
MCM6	0	broad.mit.edu	GRCh37	2	136630288	136630288	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-12-0619-01	TCGA-12-0619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264156.2:c.233C>G	p.Thr78Ser	p.T78S	ENST00000264156	NM_005915.5	78	aCc/aGc	0			1			C	T/S	uc002tuw.2	protein_coding	YES	CCDS2179.1			233/2466										0	c.(232-234)ACC>AGC			Gene3D:1ltlA01,Pfam_domain:PF14551,hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF73,Superfamily_domains:SSF50249	minichromosome maintenance complex component 6	Atorvastatin(DB01076)			ENSP00000264156		17-Feb									COSM3406897	17-Feb	.		ENST00000264156	Transcript	1		cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	ENSG00000076003	g.chr2:136630288G>C	6949			MODERATE		1.43	low	getma.org/?cm=msa&ty=f&p=MCM6_HUMAN&rb=1&re=200&var=T78S	getma.org/pdb.php?prot=MCM6_HUMAN&from=1&to=200&var=T78S	getma.org/?cm=var&var=hg19,2,136630288,G,C&fts=all	T78S	--	--	1																																			1	1		benign(0.041)	p.T78S	NM_005915	NP_005906		tolerated(0.15)	1	MCM6_HUMAN	MCM6	HGNC	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	Q53T61_HUMAN,Q4ZG57_HUMAN		2	309	-			UPI0000001611	78					SNV	MCM6,missense_variant,p.Thr78Ser,ENST00000264156,NM_005915.5;	uc002tuw.2	c.233C>G	294/3736	3	3			c.233C>G						2	SNP	c.(232-234)ACC>AGC	3	3				0	Broad	minichromosome maintenance complex component 6		Atorvastatin(DB01076)	136630288		0.413	ENSG00000076003	9218	g.chr2:136630288G>C	cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	Ovarian(196;141 2104 8848 24991 25939)			Ovarian(196;141 2104 8848 24991 25939)			-33.190116	KEEP	2	3	-1	91	113	2	3	-1	11.642638	91	113	0.027473	1	0	0	0	0	1	0	0	0	--	--		0	C				120	GBM-12-0619-TP	p.T78S	G	CTCTTGAATGGTGGTGGAAAG	NM_005915	NP_005906	136630288	Q14566	MCM6_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.166)	2	309	-	C	C			Missense_Mutation	78						
MCM6	0	broad.mit.edu	GRCh37	2	136630337	136630337	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-27-2527-01	TCGA-27-2527-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264156.2:c.184G>C	p.Val62Leu	p.V62L	ENST00000264156	NM_005915.5	62	Gtt/Ctt	0			1			G	V/L	uc002tuw.2	protein_coding	YES	CCDS2179.1			184/2466										0	c.(184-186)GTT>CTT			Gene3D:1ltlA01,Pfam_domain:PF14551,hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF73,Superfamily_domains:SSF50249	minichromosome maintenance complex component 6	Atorvastatin(DB01076)			ENSP00000264156		17-Feb									COSM3406898	17-Feb	.		ENST00000264156	Transcript	1		cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	ENSG00000076003	g.chr2:136630337C>G	6949			MODERATE		-0.22	neutral	getma.org/?cm=msa&ty=f&p=MCM6_HUMAN&rb=1&re=200&var=V62L	getma.org/pdb.php?prot=MCM6_HUMAN&from=1&to=200&var=V62L	getma.org/?cm=var&var=hg19,2,136630337,C,G&fts=all	V62L	--	--	1																																			1	1		benign(0.001)	p.V62L	NM_005915	NP_005906		tolerated(0.42)	1	MCM6_HUMAN	MCM6	HGNC	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	Q53T61_HUMAN,Q4ZG57_HUMAN		2	260	-			UPI0000001611	62					SNV	MCM6,missense_variant,p.Val62Leu,ENST00000264156,NM_005915.5;	uc002tuw.2	c.184G>C	245/3736	3	3			c.184G>C						2	SNP	c.(184-186)GTT>CTT	58	58				0	Broad	minichromosome maintenance complex component 6		Atorvastatin(DB01076)	136630337		0.403	ENSG00000076003	9218	g.chr2:136630337C>G	cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	Ovarian(196;141 2104 8848 24991 25939)			Ovarian(196;141 2104 8848 24991 25939)			-3.486837	KEEP	4	11	-1	104	89	4	11	-1	34.744146	104	89	0.066327	1	0	0	0	0	1	0	0	0	--	--		0	G				204	GBM-27-2527-TP	p.V62L	C	AAACTCACAACCAATGTGTTT	NM_005915	NP_005906	136630337	Q14566	MCM6_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.166)	2	260	-	G	G			Missense_Mutation	62						
MCM6	0	broad.mit.edu	GRCh37	2	136627932	136627932	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G			TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264156.2:c.255-1G>C		p.X85_splice	ENST00000264156	NM_005915.5			0			1			G		uc002tuw.2	protein_coding	YES	CCDS2179.1			255/2466										0	c.e3-1				minichromosome maintenance complex component 6	Atorvastatin(DB01076)			ENSP00000264156											COSM3406896		.		ENST00000264156	Transcript	1		cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	ENSG00000076003	g.chr2:136627932C>G	6949			HIGH	16-Feb							--	--	1																																			1	1			p.R85_splice	NM_005915	NP_005906			1	MCM6_HUMAN	MCM6	HGNC	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	Q53T61_HUMAN,Q4ZG57_HUMAN		3	331	-			UPI0000001611						SNV	MCM6,splice_acceptor_variant,,ENST00000264156,NM_005915.5;	uc002tuw.2	c.255_splice	-/3736	5	4			c.255_splice						2	SNP	c.e3-1	22	22				0	Broad	minichromosome maintenance complex component 6		Atorvastatin(DB01076)	136627932		0.428	ENSG00000076003	9218	g.chr2:136627932C>G	cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	Ovarian(196;141 2104 8848 24991 25939)			Ovarian(196;141 2104 8848 24991 25939)			225.535072	KEEP	45	34	-1	101	99	45	34	-1	237.626284	101	99	0.276119	1	0	0	0	0	0	0	0	1	--	--		0	G				229	GBM-32-1977-TP	p.R85_splice	C	AGGGTAAACTCTGAAAAACAA	NM_005915	NP_005906	136627932	Q14566	MCM6_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.166)	3	331	-	G	G			Splice_Site							
MCM7	4176	broad.mit.edu	GRCh37	7	99693629	99693629	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303887.5:c.1363C>T	p.Arg455Cys	p.R455C	ENST00000303887	NM_001278595.1	455	Cgc/Tgc	0			1			A	R/C	uc003usw.1	protein_coding	YES	CCDS5683.1			1363/2160										0	c.(1363-1365)CGC>TGC			PROSITE_profiles:PS50051,hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF26,Pfam_domain:PF00493,Gene3D:3.40.50.300,SMART_domains:SM00382,SMART_domains:SM00350,Superfamily_domains:SSF52540	minichromosome maintenance complex component 7	Atorvastatin(DB01076)			ENSP00000307288		15-Nov	8.24E-06					1.50E-05			rs750263017,COSM3412582,COSM3412581	15-Nov	.		ENST00000303887	Transcript			cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	ENSG00000166508	g.chr7:99693629G>A	6950			MODERATE		4.565	high	getma.org/?cm=msa&ty=f&p=MCM7_HUMAN&rb=320&re=642&var=R455C	getma.org/pdb.php?prot=MCM7_HUMAN&from=320&to=642&var=R455C	getma.org/?cm=var&var=hg19,7,99693629,G,A&fts=all	R455C	--	--	1																																		MCM7_uc003usv.1_Missense_Mutation_p.R279C|MCM7_uc003usx.1_Missense_Mutation_p.R279C|uc003usy.1_5'Flank|MIR25_hsa-mir-25|MI0000082_5'Flank|uc003usz.1_5'Flank|MIR93_hsa-mir-93|MI0000095_5'Flank|uc003uta.1_5'Flank|MIR106B_hsa-mir-106b|MI0000734_5'Flank	0,1,1	1		probably_damaging(1)	p.R455C	NM_005916	NP_005907		deleterious(0)	0,1,1	MCM7_HUMAN	MCM7	HGNC	P33993	MCM7_HUMAN			Q9H4N9_HUMAN,C9J8M6_HUMAN		11	1873	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		UPI000012ED9E	455			MCM.		SNV	MCM7,missense_variant,p.Arg455Cys,ENST00000303887,NM_001278595.1,NM_005916.4;MCM7,missense_variant,p.Arg279Cys,ENST00000354230,NM_182776.2;MCM7,intron_variant,,ENST00000343023,;MCM7,downstream_gene_variant,,ENST00000425308,;COPS6,downstream_gene_variant,,ENST00000303904,NM_006833.4;COPS6,downstream_gene_variant,,ENST00000418625,;MIR25,upstream_gene_variant,,ENST00000384816,;MIR106B,upstream_gene_variant,,ENST00000385301,;MIR93,upstream_gene_variant,,ENST00000385024,;MCM7,non_coding_transcript_exon_variant,,ENST00000485286,;MCM7,non_coding_transcript_exon_variant,,ENST00000489841,;MCM7,intron_variant,,ENST00000491245,;MCM7,downstream_gene_variant,,ENST00000463722,;MCM7,downstream_gene_variant,,ENST00000477372,;MCM7,downstream_gene_variant,,ENST00000467516,;COPS6,downstream_gene_variant,,ENST00000474823,;COPS6,downstream_gene_variant,,ENST00000468499,;COPS6,downstream_gene_variant,,ENST00000483891,;COPS6,downstream_gene_variant,,ENST00000426712,;MCM7,upstream_gene_variant,,ENST00000493352,;MCM7,downstream_gene_variant,,ENST00000465688,;MCM7,downstream_gene_variant,,ENST00000465738,;	uc003usw.1	c.1363C>T	2009/2957	2	2			c.1363C>T						7	SNP	c.(1363-1365)CGC>TGC	24	24				0	Broad	minichromosome maintenance complex component 7		Atorvastatin(DB01076)	99693629		0.612	ENSG00000166508	9219	g.chr7:99693629G>A	cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding							-7.525209	KEEP	9	2	-1	58	78	9	2	-1	20.095984	58	78	0.064286	1	0	0	0	0	1	0	0	0	--	--		0	A			MCM7_uc003usv.1_Missense_Mutation_p.R279C|MCM7_uc003usx.1_Missense_Mutation_p.R279C|uc003usy.1_5'Flank|MIR25_hsa-mir-25|MI0000082_5'Flank|uc003usz.1_5'Flank|MIR93_hsa-mir-93|MI0000095_5'Flank|uc003uta.1_5'Flank|MIR106B_hsa-mir-106b|MI0000734_5'Flank	8	GBM-02-2486-TP	p.R455C	G	ATGGCTGTGCGGTCGGCCTCA	NM_005916	NP_005907	99693629	P33993	MCM7_HUMAN	0			11	1873	-	A	A	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		Missense_Mutation	455			MCM.			
MCM7	4176	broad.mit.edu	GRCh37	7	99694927	99694927	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0749-01	TCGA-06-0749-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303887.5:c.1198C>T	p.Arg400Cys	p.R400C	ENST00000303887	NM_001278595.1	400	Cgc/Tgc	0			1			A	R/C	uc003usw.1	protein_coding	YES	CCDS5683.1			1198/2160										0	c.(1198-1200)CGC>TGC			PROSITE_profiles:PS50051,hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF26,Pfam_domain:PF00493,Gene3D:3.40.50.300,SMART_domains:SM00382,SMART_domains:SM00350,Superfamily_domains:SSF52540	minichromosome maintenance complex component 7	Atorvastatin(DB01076)			ENSP00000307288		15-Oct	8.24E-06							6.06E-05	rs751951140,COSM748256,COSM748255	15-Oct	.		ENST00000303887	Transcript			cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	ENSG00000166508	g.chr7:99694927G>A	6950			MODERATE		4.605	high	getma.org/?cm=msa&ty=f&p=MCM7_HUMAN&rb=320&re=642&var=R400C	getma.org/pdb.php?prot=MCM7_HUMAN&from=320&to=642&var=R400C	getma.org/?cm=var&var=hg19,7,99694927,G,A&fts=all	R400C	--	--	1																																		MCM7_uc003usv.1_Missense_Mutation_p.R224C|MCM7_uc003usx.1_Missense_Mutation_p.R224C	0,1,1	1		probably_damaging(1)	p.R400C	NM_005916	NP_005907		deleterious(0)	0,1,1	MCM7_HUMAN	MCM7	HGNC	P33993	MCM7_HUMAN			Q9H4N9_HUMAN,C9J8M6_HUMAN		10	1708	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		UPI000012ED9E	400			MCM.		SNV	MCM7,missense_variant,p.Arg400Cys,ENST00000303887,NM_001278595.1,NM_005916.4;MCM7,missense_variant,p.Arg224Cys,ENST00000354230,NM_182776.2;MCM7,intron_variant,,ENST00000343023,;AP4M1,upstream_gene_variant,,ENST00000429084,;AP4M1,upstream_gene_variant,,ENST00000359593,NM_004722.3;AP4M1,upstream_gene_variant,,ENST00000422582,;AP4M1,upstream_gene_variant,,ENST00000421755,;MCM7,downstream_gene_variant,,ENST00000425308,;AP4M1,upstream_gene_variant,,ENST00000438383,;AP4M1,upstream_gene_variant,,ENST00000439416,;MIR25,upstream_gene_variant,,ENST00000384816,;MIR106B,upstream_gene_variant,,ENST00000385301,;MIR93,upstream_gene_variant,,ENST00000385024,;AP4M1,upstream_gene_variant,,ENST00000478501,;AP4M1,upstream_gene_variant,,ENST00000495154,;MCM7,non_coding_transcript_exon_variant,,ENST00000485286,;MCM7,non_coding_transcript_exon_variant,,ENST00000489841,;MCM7,intron_variant,,ENST00000491245,;AP4M1,upstream_gene_variant,,ENST00000416938,;AP4M1,upstream_gene_variant,,ENST00000445208,;MCM7,downstream_gene_variant,,ENST00000463722,;AP4M1,upstream_gene_variant,,ENST00000463195,;AP4M1,upstream_gene_variant,,ENST00000446007,;MCM7,downstream_gene_variant,,ENST00000477372,;AP4M1,upstream_gene_variant,,ENST00000394061,;MCM7,downstream_gene_variant,,ENST00000467516,;MCM7,upstream_gene_variant,,ENST00000493352,;MCM7,downstream_gene_variant,,ENST00000465688,;MCM7,downstream_gene_variant,,ENST00000465738,;	uc003usw.1	c.1198C>T	1844/2957	1	1			c.1198C>T						7	SNP	c.(1198-1200)CGC>TGC	49	49				0	Broad	minichromosome maintenance complex component 7		Atorvastatin(DB01076)	99694927		0.473	ENSG00000166508	9219	g.chr7:99694927G>A	cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding							71.880793	KEEP	16	12	-1	43	41	16	12	-1	78.010983	43	41	0.25	1	0	0	0	0	1	0	0	0	--	--		0	A			MCM7_uc003usv.1_Missense_Mutation_p.R224C|MCM7_uc003usx.1_Missense_Mutation_p.R224C	69	GBM-06-0749-TP	p.R400C	G	TACTTACTGCGAGGCGCCAGT	NM_005916	NP_005907	99694927	P33993	MCM7_HUMAN	0			10	1708	-	A	A	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		Missense_Mutation	400			MCM.			
MCMBP	0	broad.mit.edu	GRCh37	10	121600464	121600464	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-41-5651-01	TCGA-41-5651-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360003.3:c.1139G>T	p.Arg380Ile	p.R380I	ENST00000360003	NM_001256378.1	380	aGa/aTa	0			1			A	R/I	uc001ler.2	protein_coding	YES	CCDS7617.1			1139/1929										0	c.(1138-1140)AGA>ATA			Pfam_domain:PF13615,hmmpanther:PTHR13489,hmmpanther:PTHR13489:SF0	chromosome 10 open reading frame 119				ENSP00000353098		16-Nov									COSM3396945	16-Nov	.		ENST00000360003	Transcript			cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding	ENSG00000197771	g.chr10:121600464C>A	25782			MODERATE		3.115	medium	getma.org/?cm=msa&ty=f&p=MCMBP_HUMAN&rb=352&re=451&var=R380I	NA	getma.org/?cm=var&var=hg19,10,121600464,C,A&fts=all	R380I	--	--	1																																		C10orf119_uc001leq.1_Missense_Mutation_p.R205I|C10orf119_uc001les.1_Missense_Mutation_p.R205I	1	1		probably_damaging(1)	p.R380I	NM_024834	NP_079110		deleterious(0)	1	MCMBP_HUMAN	MCMBP	HGNC	Q9BTE3	MCMBP_HUMAN		all cancers(201;0.0044)			11	1437	-		Lung NSC(174;0.109)|all_lung(145;0.142)	UPI0000070023	380					SNV	MCMBP,missense_variant,p.Arg380Ile,ENST00000360003,NM_001256378.1,NM_001256379.1,NM_024834.3;MCMBP,missense_variant,p.Arg378Ile,ENST00000369077,;MCMBP,non_coding_transcript_exon_variant,,ENST00000466047,;MCMBP,downstream_gene_variant,,ENST00000495407,;	uc001ler.2	c.1139G>T	1309/4113	1	1			c.1139G>T						10	SNP	c.(1138-1140)AGA>ATA	54	54				0	Broad	chromosome 10 open reading frame 119			121600464		0.328	ENSG00000197771	1554	g.chr10:121600464C>A	cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding							49.632703	KEEP	9	9	0.5	3	3	9	9	0.5	50.497367	3	3	0.714286	1	0	0	0	0	1	0	0	0	--	--		0	A			C10orf119_uc001leq.1_Missense_Mutation_p.R205I|C10orf119_uc001les.1_Missense_Mutation_p.R205I	258	GBM-41-5651-TP	p.R380I	C	GACATCTCTTCTTGTATATCT	NM_024834	NP_079110	121600464	Q9BTE3	MCMBP_HUMAN	0		all cancers(201;0.0044)	11	1437	-	A	A		Lung NSC(174;0.109)|all_lung(145;0.142)	Missense_Mutation	380						
MCOLN1	0	broad.mit.edu	GRCh37	19	7591685	7591685	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0688-01	TCGA-12-0688-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264079.6:c.444G>A	p.Ala148=	p.A148=	ENST00000264079	NM_020533.2	148	gcG/gcA	0	A:0		1			A	A	uc002mgo.2	protein_coding	YES	CCDS12180.1			444/1743									breast(1)	1	c.(442-444)GCG>GCA			hmmpanther:PTHR12127,hmmpanther:PTHR12127:SF6	mucolipin 1			A:0.0001	ENSP00000264079		14-Apr	3.29E-05		0.000173			3.00E-05			rs374412302,COSM2153886	14-Apr	.		ENST00000264079	Transcript	1		calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	ENSG00000090674	g.chr19:7591685G>A	13356			LOW								--	--	1																																		MCOLN1_uc002mgp.2_Missense_Mutation_p.R35H	0,1	1			p.A148A	NM_020533	NP_065394			0,1	MCLN1_HUMAN	MCOLN1	HGNC	Q9GZU1	MCLN1_HUMAN			B4DFZ1_HUMAN		4	569	+			UPI00000377A2	148					SNV	MCOLN1,synonymous_variant,p.=,ENST00000264079,NM_020533.2;MCOLN1,synonymous_variant,p.=,ENST00000601003,;MCOLN1,upstream_gene_variant,,ENST00000599334,;MCOLN1,non_coding_transcript_exon_variant,,ENST00000394321,;MCOLN1,non_coding_transcript_exon_variant,,ENST00000596008,;MCOLN1,non_coding_transcript_exon_variant,,ENST00000598406,;MCOLN1,downstream_gene_variant,,ENST00000596390,;MCOLN1,upstream_gene_variant,,ENST00000595860,;MCOLN1,upstream_gene_variant,,ENST00000594692,;	uc002mgo.2	c.444G>A	569/2082	1	1			c.444G>A						19	SNP	c.(442-444)GCG>GCA	58	58			breast(1)	1	Broad	mucolipin 1			7591685		0.537	ENSG00000090674	9222	g.chr19:7591685G>A	calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity							100.059394	KEEP	27	19	-1	83	59	27	19	-1	108.777195	83	59	0.253165	1	0	0	0	0	0	0	1	0	--	--		0	A			MCOLN1_uc002mgp.2_Missense_Mutation_p.R35H	121	GBM-12-0688-TP	p.A148A	G	GCCGGTATGCGTATGTCCGTG	NM_020533	NP_065394	7591685	Q9GZU1	MCLN1_HUMAN	0			4	569	+	A	A			Silent	148						
MCOLN1	57192		GRCh37	19	7593590	7593590	+	splice_donor_variant	Splice_Site	SNP	G	G	A			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000264079.6:c.984+1G>A		p.X328_splice	ENST00000264079	NM_020533.2	328		0																																																																																																																																																																																																																																												
MCOLN3	0	broad.mit.edu	GRCh37	1	85498465	85498465	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0821-01	TCGA-12-0821-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370589.2:c.646G>A	p.Val216Met	p.V216M	ENST00000370589	NM_018298.10	216	Gtg/Atg	0			1			T	V/M	uc001dkp.2	protein_coding	YES	CCDS701.1			646/1662									skin(1)	1	c.(646-648)GTG>ATG			hmmpanther:PTHR12127,hmmpanther:PTHR12127:SF5	mucolipin 3				ENSP00000359621		13-Jun									COSM3401044,COSM3401045	13-Jun	.		ENST00000370589	Transcript				integral to membrane	ion channel activity	ENSG00000055732	g.chr1:85498465C>T	13358			MODERATE		2.585	medium	getma.org/?cm=msa&ty=f&p=MCLN3_HUMAN&rb=201&re=363&var=V216M	NA	getma.org/?cm=var&var=hg19,1,85498465,C,T&fts=all	V216M	--	--	1																																		MCOLN3_uc001dkq.2_Missense_Mutation_p.V160M|MCOLN3_uc001dkr.2_Missense_Mutation_p.V216M|MCOLN3_uc001dks.3_Missense_Mutation_p.V61M	1,1	1		benign(0.15)	p.V216M	NM_018298	NP_060768		deleterious(0)	1,1	MCLN3_HUMAN	MCOLN3	HGNC	Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)			6	739	-			UPI0000073A4B	216					SNV	MCOLN3,missense_variant,p.Val216Met,ENST00000370587,;MCOLN3,missense_variant,p.Val216Met,ENST00000370589,NM_018298.10;MCOLN3,missense_variant,p.Val160Met,ENST00000341115,NM_001253693.1;WDR63,intron_variant,,ENST00000370596,;MCOLN3,upstream_gene_variant,,ENST00000475312,;MCOLN3,3_prime_UTR_variant,,ENST00000490600,;	uc001dkp.2	c.646G>A	699/2756	2	2			c.646G>A						1	SNP	c.(646-648)GTG>ATG	34	34			skin(1)	1	Broad	mucolipin 3			85498465		0.438	ENSG00000055732	9224	g.chr1:85498465C>T		integral to membrane	ion channel activity							571.988162	KEEP	120	72	-1	146	84	120	72	-1	572.642954	146	84	0.457002	1	0	0	0	0	1	0	0	0	--	--		0	T			MCOLN3_uc001dkq.2_Missense_Mutation_p.V160M|MCOLN3_uc001dkr.2_Missense_Mutation_p.V216M|MCOLN3_uc001dks.3_Missense_Mutation_p.V61M	123	GBM-12-0821-TP	p.V216M	C	TGAAGCTCCACTGTTAGGAGT	NM_018298	NP_060768	85498465	Q8TDD5	MCLN3_HUMAN	0		all cancers(265;0.00957)|Epithelial(280;0.0254)	6	739	-	T	T			Missense_Mutation	216						
MCOLN3	0	broad.mit.edu	GRCh37	1	85491656	85491656	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-4925-01	TCGA-76-4925-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370589.2:c.1061T>C	p.Ile354Thr	p.I354T	ENST00000370589	NM_018298.10	354	aTt/aCt	0			1			G	I/T	uc001dkp.2	protein_coding	YES	CCDS701.1			1061/1662									skin(1)	1	c.(1060-1062)ATT>ACT			hmmpanther:PTHR12127,hmmpanther:PTHR12127:SF5,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	mucolipin 3				ENSP00000359621		13-Sep									COSM2157476	13-Sep	.		ENST00000370589	Transcript				integral to membrane	ion channel activity	ENSG00000055732	g.chr1:85491656A>G	13358			MODERATE		1.015	low	getma.org/?cm=msa&ty=f&p=MCLN3_HUMAN&rb=201&re=363&var=I354T	NA	getma.org/?cm=var&var=hg19,1,85491656,A,G&fts=all	I354T	--	--	1																																		MCOLN3_uc001dko.2_5'Flank|MCOLN3_uc001dkq.2_Missense_Mutation_p.I298T|MCOLN3_uc001dkr.2_3'UTR|MCOLN3_uc001dks.3_Missense_Mutation_p.I199T	1	1		benign(0.001)	p.I354T	NM_018298	NP_060768		tolerated(0.44)	1	MCLN3_HUMAN	MCOLN3	HGNC	Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)			9	1154	-			UPI0000073A4B	354			Helical; (Potential).		SNV	MCOLN3,missense_variant,p.Ile354Thr,ENST00000370589,NM_018298.10;MCOLN3,missense_variant,p.Ile298Thr,ENST00000341115,NM_001253693.1;MCOLN3,3_prime_UTR_variant,,ENST00000370587,;WDR63,intron_variant,,ENST00000370596,;MCOLN3,non_coding_transcript_exon_variant,,ENST00000475312,;MCOLN3,upstream_gene_variant,,ENST00000474447,;MCOLN3,3_prime_UTR_variant,,ENST00000490600,;	uc001dkp.2	c.1061T>C	1114/2756	3	3			c.1061T>C						1	SNP	c.(1060-1062)ATT>ACT	62	62			skin(1)	1	Broad	mucolipin 3			85491656		0.303	ENSG00000055732	9224	g.chr1:85491656A>G		integral to membrane	ion channel activity							77.175272	KEEP	12	11	-1	10	10	12	11	-1	77.196926	10	10	0.525	1	0	0	0	0	1	0	0	0	--	--		0	G			MCOLN3_uc001dko.2_5'Flank|MCOLN3_uc001dkq.2_Missense_Mutation_p.I298T|MCOLN3_uc001dkr.2_3'UTR|MCOLN3_uc001dks.3_Missense_Mutation_p.I199T	265	GBM-76-4925-TP	p.I354T	A	AATTGATCCAATGATTGTCAA	NM_018298	NP_060768	85491656	Q8TDD5	MCLN3_HUMAN	0		all cancers(265;0.00957)|Epithelial(280;0.0254)	9	1154	-	G	G			Missense_Mutation	354			Helical; (Potential).			
MCTP1	0	broad.mit.edu	GRCh37	5	94288921	94288921	+	splice_donor_variant	Splice_Site	SNP	A	A	G			TCGA-28-2513-01	TCGA-28-2513-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000515393.1:c.981+2T>C		p.X327_splice	ENST00000515393	NM_024717.4			0			1			G		uc003kkx.2	protein_coding	YES	CCDS34203.1			981/3000									ovary(2)	2	c.e3+1				multiple C2 domains, transmembrane 1 isoform L				ENSP00000424126											COSM3410479,COSM3410480		.		ENST00000515393	Transcript			calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	ENSG00000175471	g.chr5:94288921A>G	26183			HIGH	22-Mar							--	--	1																																		MCTP1_uc003kkv.2_Splice_Site_p.K106_splice|MCTP1_uc003kkw.2_Splice_Site_p.K106_splice|MCTP1_uc003kkz.2_Splice_Site	1,1	1			p.K327_splice	NM_024717	NP_078993			1,1	MCTP1_HUMAN	MCTP1	HGNC	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	E5RJR1_HUMAN		3	981	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	UPI0000D6165C						SNV	MCTP1,splice_donor_variant,,ENST00000515393,NM_024717.4;MCTP1,splice_donor_variant,,ENST00000429576,;MCTP1,splice_donor_variant,,ENST00000312216,NM_001002796.2;MCTP1,splice_donor_variant,,ENST00000508509,;MCTP1,splice_donor_variant,,ENST00000505208,;MCTP1,splice_donor_variant,,ENST00000512425,;MCTP1,splice_donor_variant,,ENST00000514780,;MCTP1,splice_donor_variant,,ENST00000503301,;MCTP1,splice_donor_variant,,ENST00000507214,;MCTP1,splice_donor_variant,,ENST00000510732,;MCTP1,downstream_gene_variant,,ENST00000505465,;MCTP1,splice_donor_variant,,ENST00000513695,;MCTP1,splice_donor_variant,,ENST00000512568,;	uc003kkx.2	c.981_splice	-/5396	5	4			c.981_splice						5	SNP	c.e3+1	17	17			ovary(2)	2	Broad	multiple C2 domains, transmembrane 1 isoform L			94288921		0.363	ENSG00000175471	9227	g.chr5:94288921A>G	calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding							3.63961	KEEP	3	5	-1	31	19	3	5	-1	11.377741	31	19	0.102041	1	0	0	0	0	0	0	0	1	--	--		0	G			MCTP1_uc003kkv.2_Splice_Site_p.K106_splice|MCTP1_uc003kkw.2_Splice_Site_p.K106_splice|MCTP1_uc003kkz.2_Splice_Site	213	GBM-28-2513-TP	p.K327_splice	A	TAAATGGCTCACCTTTATATA	NM_024717	NP_078993	94288921	Q6DN14	MCTP1_HUMAN	0		all cancers(79;9.1e-17)	3	981	-	G	G		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	Splice_Site							
MCTP1	79772		GRCh37	5	94044306	94044306	+	stop_gained	Nonsense_Mutation	SNP	T	T	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000515393.1:c.2839A>T	p.Lys947Ter	p.K947*	ENST00000515393	NM_024717.4	947	Aaa/Taa	0																																																																																																																																																																																																																																												
MDC1	9656	broad.mit.edu	GRCh37	6	30675721	30675721	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0171-01	TCGA-06-0171-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376406.3:c.2635G>C	p.Glu879Gln	p.E879Q	ENST00000376406	NM_014641.2	879	Gaa/Caa	0			1			G	E/Q	uc003nrg.3	protein_coding	YES	CCDS34384.1			2635/6270									breast(2)|ovary(1)|kidney(1)	4	c.(2635-2637)GAA>CAA		Other_conserved_DNA_damage_response_genes	hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF10	mediator of DNA-damage checkpoint 1				ENSP00000365588		15-Aug									COSM2150316,COSM2150315	15-Aug	.		ENST00000376406	Transcript			cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	ENSG00000137337	g.chr6:30675721C>G	21163			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=MDC1_HUMAN&rb=821&re=1089&var=E879Q	NA	getma.org/?cm=var&var=hg19,6,30675721,C,G&fts=all	E879Q	--	--	1																																		MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Intron	1,1	1		benign(0.025)	p.E879Q	NM_014641	NP_055456		deleterious(0.02)	1,1	MDC1_HUMAN	MDC1	HGNC	Q14676	MDC1_HUMAN			A2AB07_HUMAN,A2AB06_HUMAN,A2AB05_HUMAN,A1Z5I9_HUMAN,A1Z5I7_HUMAN		8	3075	-			UPI00001AF453	879	Missing (in Ref. 2; CAH18685).				SNV	MDC1,missense_variant,p.Glu879Gln,ENST00000376406,NM_014641.2;MDC1,intron_variant,,ENST00000376405,;MDC1,intron_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,downstream_gene_variant,,ENST00000494654,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,upstream_gene_variant,,ENST00000492462,;	uc003nrg.3	c.2635G>C	3283/7576	3	3			c.2635G>C						6	SNP	c.(2635-2637)GAA>CAA	57	57			breast(2)|ovary(1)|kidney(1)	4	Broad	mediator of DNA-damage checkpoint 1	Other_conserved_DNA_damage_response_genes		30675721		0.423	ENSG00000137337	9230	g.chr6:30675721C>G	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding							593.102156	KEEP	99	92	-1	257	209	99	92	-1	614.055647	257	209	0.297909	1	0	0	0	0	1	0	0	0	--	--		0	G			MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Intron	35	GBM-06-0171-TP	p.E879Q	C	CTTGCACTTTCCCCATTTTTG	NM_014641	NP_055456	30675721	Q14676	MDC1_HUMAN	0			8	3075	-	G	G			Missense_Mutation	879	Missing (in Ref. 2; CAH18685).					
MDC1	0	broad.mit.edu	GRCh37	6	30671524	30671524	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-15-0742-01	TCGA-15-0742-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376406.3:c.5436G>C	p.Lys1812Asn	p.K1812N	ENST00000376406	NM_014641.2	1812	aaG/aaC	0			1			G	K/N	uc003nrg.3	protein_coding	YES	CCDS34384.1			5436/6270									breast(2)|ovary(1)|kidney(1)	4	c.(5434-5436)AAG>AAC		Other_conserved_DNA_damage_response_genes	hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF10	mediator of DNA-damage checkpoint 1				ENSP00000365588		15-Oct									COSM3410911,COSM3410910	15-Oct	.		ENST00000376406	Transcript			cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	ENSG00000137337	g.chr6:30671524C>G	21163			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=MDC1_HUMAN&rb=1091&re=1879&var=K1812N	NA	getma.org/?cm=var&var=hg19,6,30671524,C,G&fts=all	K1812N	--	--	1																																		MDC1_uc003nrf.3_Missense_Mutation_p.K443N|MDC1_uc011dmp.1_Missense_Mutation_p.K1419N	1,1	1		probably_damaging(0.991)	p.K1812N	NM_014641	NP_055456		deleterious(0)	1,1	MDC1_HUMAN	MDC1	HGNC	Q14676	MDC1_HUMAN			A2AB07_HUMAN,A2AB06_HUMAN,A2AB05_HUMAN,A1Z5I9_HUMAN,A1Z5I7_HUMAN		10	5876	-			UPI00001AF453	1812			Required for nuclear localization (NLS2).		SNV	MDC1,missense_variant,p.Lys1812Asn,ENST00000376406,NM_014641.2;MDC1,missense_variant,p.Lys1548Asn,ENST00000376405,;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,non_coding_transcript_exon_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,;	uc003nrg.3	c.5436G>C	6084/7576	3	3			c.5436G>C						6	SNP	c.(5434-5436)AAG>AAC	3	3			breast(2)|ovary(1)|kidney(1)	4	Broad	mediator of DNA-damage checkpoint 1	Other_conserved_DNA_damage_response_genes		30671524		0.498	ENSG00000137337	9230	g.chr6:30671524C>G	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding							496.938054	KEEP	81	82	-1	113	87	81	82	-1	497.779483	113	87	0.444795	1	0	0	0	0	1	0	0	0	--	--		0	G			MDC1_uc003nrf.3_Missense_Mutation_p.K443N|MDC1_uc011dmp.1_Missense_Mutation_p.K1419N	153	GBM-15-0742-TP	p.K1812N	C	CTAAAGACCTCTTGCGGCTTT	NM_014641	NP_055456	30671524	Q14676	MDC1_HUMAN	0			10	5876	-	G	G			Missense_Mutation	1812			Required for nuclear localization (NLS2).			
MDC1	0	broad.mit.edu	GRCh37	6	30671570	30671570	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2524-01	TCGA-27-2524-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376406.3:c.5390C>T	p.Ser1797Phe	p.S1797F	ENST00000376406	NM_014641.2	1797	tCt/tTt	0			1			A	S/F	uc003nrg.3	protein_coding	YES	CCDS34384.1			5390/6270									breast(2)|ovary(1)|kidney(1)	4	c.(5389-5391)TCT>TTT		Other_conserved_DNA_damage_response_genes	hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF10	mediator of DNA-damage checkpoint 1				ENSP00000365588		15-Oct	1.65E-05					3.10E-05			rs753386959,COSM3410913,COSM3410912	15-Oct	.		ENST00000376406	Transcript			cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	ENSG00000137337	g.chr6:30671570G>A	21163			MODERATE		2.135	medium	getma.org/?cm=msa&ty=f&p=MDC1_HUMAN&rb=1091&re=1879&var=S1797F	NA	getma.org/?cm=var&var=hg19,6,30671570,G,A&fts=all	S1797F	--	--	1																																		MDC1_uc003nrf.3_Missense_Mutation_p.S428F|MDC1_uc011dmp.1_Missense_Mutation_p.S1404F	0,1,1	1		benign(0.443)	p.S1797F	NM_014641	NP_055456		tolerated(0.47)	0,1,1	MDC1_HUMAN	MDC1	HGNC	Q14676	MDC1_HUMAN			A2AB07_HUMAN,A2AB06_HUMAN,A2AB05_HUMAN,A1Z5I9_HUMAN,A1Z5I7_HUMAN		10	5830	-			UPI00001AF453	1797			Required for nuclear localization (NLS2).		SNV	MDC1,missense_variant,p.Ser1797Phe,ENST00000376406,NM_014641.2;MDC1,missense_variant,p.Ser1533Phe,ENST00000376405,;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,non_coding_transcript_exon_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,;	uc003nrg.3	c.5390C>T	6038/7576	1	1			c.5390C>T						6	SNP	c.(5389-5391)TCT>TTT	51	51			breast(2)|ovary(1)|kidney(1)	4	Broad	mediator of DNA-damage checkpoint 1	Other_conserved_DNA_damage_response_genes		30671570		0.537	ENSG00000137337	9230	g.chr6:30671570G>A	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding							221.349584	KEEP	45	43	-1	111	95	45	43	-1	230.721848	111	95	0.302239	1	0	0	0	0	1	0	0	0	--	--		0	A			MDC1_uc003nrf.3_Missense_Mutation_p.S428F|MDC1_uc011dmp.1_Missense_Mutation_p.S1404F	202	GBM-27-2524-TP	p.S1797F	G	GGTGAACCTAGATCTACCTGC	NM_014641	NP_055456	30671570	Q14676	MDC1_HUMAN	0			10	5830	-	A	A			Missense_Mutation	1797			Required for nuclear localization (NLS2).			
MDC1	0	broad.mit.edu	GRCh37	6	30675376	30675376	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-32-4210-01	TCGA-32-4210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376406.3:c.2980G>T	p.Gly994Ter	p.G994*	ENST00000376406	NM_014641.2	994	Gga/Tga	0			1			A	G/*	uc003nrg.3	protein_coding	YES	CCDS34384.1			2980/6270									breast(2)|ovary(1)|kidney(1)	4	c.(2980-2982)GGA>TGA		Other_conserved_DNA_damage_response_genes	hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF10,Low_complexity_(Seg):seg	mediator of DNA-damage checkpoint 1				ENSP00000365588		15-Aug									COSM3410917,COSM3410916	15-Aug	.		ENST00000376406	Transcript			cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	ENSG00000137337	g.chr6:30675376C>A	21163			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,6,30675376,C,A&fts=all	G994*	--	--	1																																		MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Intron	1,1	1			p.G994*	NM_014641	NP_055456			1,1	MDC1_HUMAN	MDC1	HGNC	Q14676	MDC1_HUMAN			A2AB07_HUMAN,A2AB06_HUMAN,A2AB05_HUMAN,A1Z5I9_HUMAN,A1Z5I7_HUMAN		8	3420	-			UPI00001AF453	994	Missing (in Ref. 2; CAH18685).				SNV	MDC1,stop_gained,p.Gly994Ter,ENST00000376406,NM_014641.2;MDC1,intron_variant,,ENST00000376405,;MDC1,intron_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,downstream_gene_variant,,ENST00000494654,;MDC1,non_coding_transcript_exon_variant,,ENST00000492462,;MDC1,upstream_gene_variant,,ENST00000489540,;	uc003nrg.3	c.2980G>T	3628/7576	5	2			c.2980G>T						6	SNP	c.(2980-2982)GGA>TGA	30	30			breast(2)|ovary(1)|kidney(1)	4	Broad	mediator of DNA-damage checkpoint 1	Other_conserved_DNA_damage_response_genes		30675376		0.637	ENSG00000137337	9230	g.chr6:30675376C>A	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding							-40.054396	KEEP	3	1	0.25	92	112	3	1	0.25	6.384743	92	112	0.021978	1	0	0	0	0	0	1	0	0	--	--		0	A			MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Intron	245	GBM-32-4210-TP	p.G994*	C	ACTGGGGATCCCCTTCCACCT	NM_014641	NP_055456	30675376	Q14676	MDC1_HUMAN	0			8	3420	-	A	A			Nonsense_Mutation	994	Missing (in Ref. 2; CAH18685).					
MDC1	0	broad.mit.edu	GRCh37	6	30671653	30671653	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-4097-01	TCGA-41-4097-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376406.3:c.5307C>T	p.Ala1769=	p.A1769=	ENST00000376406	NM_014641.2	1769	gcC/gcT	0			1			A	A	uc003nrg.3	protein_coding	YES	CCDS34384.1			5307/6270									breast(2)|ovary(1)|kidney(1)	4	c.(5305-5307)GCC>GCT		Other_conserved_DNA_damage_response_genes	hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF10	mediator of DNA-damage checkpoint 1				ENSP00000365588		15-Oct									COSM3410915,COSM3410914	15-Oct	.		ENST00000376406	Transcript			cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	ENSG00000137337	g.chr6:30671653G>A	21163			LOW								--	--	1																																		MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Silent_p.A1376A	1,1	1			p.A1769A	NM_014641	NP_055456			1,1	MDC1_HUMAN	MDC1	HGNC	Q14676	MDC1_HUMAN			A2AB07_HUMAN,A2AB06_HUMAN,A2AB05_HUMAN,A1Z5I9_HUMAN,A1Z5I7_HUMAN		10	5747	-			UPI00001AF453	1769			Required for nuclear localization (NLS2).		SNV	MDC1,synonymous_variant,p.=,ENST00000376406,NM_014641.2;MDC1,synonymous_variant,p.=,ENST00000376405,;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,non_coding_transcript_exon_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,;	uc003nrg.3	c.5307C>T	5955/7576	2	2			c.5307C>T						6	SNP	c.(5305-5307)GCC>GCT	19	19			breast(2)|ovary(1)|kidney(1)	4	Broad	mediator of DNA-damage checkpoint 1	Other_conserved_DNA_damage_response_genes		30671653		0.542	ENSG00000137337	9230	g.chr6:30671653G>A	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding							-11.644798	KEEP	1	2	-1	33	49	1	2	-1	6.313082	33	49	0.038462	1	0	0	0	0	0	0	1	0	--	--		0	A			MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Silent_p.A1376A	257	GBM-41-4097-TP	p.A1769A	G	GCTCAGGAATGGCTGTAAGGG	NM_014641	NP_055456	30671653	Q14676	MDC1_HUMAN	0			10	5747	-	A	A			Silent	1769			Required for nuclear localization (NLS2).			
MDC1	9656		GRCh37	6	30682871	30682871	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000376406.3:c.82G>A	p.Val28Met	p.V28M	ENST00000376406	NM_014641.2	28	Gtg/Atg	0																																																																																																																																																																																																																																												
MDGA2	161357	broad.mit.edu	GRCh37	14	47530541	47530541	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01	TCGA-06-0192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000426342.1:c.542C>T	p.Thr181Met	p.T181M	ENST00000426342	NM_182830.4	181	aCg/aTg	0			1			A	T/M	uc001wwj.3	protein_coding		CCDS45098.3			1229/2871									ovary(4)|large_intestine(1)|pancreas(1)	6	c.(1228-1230)ACG>ATG			Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Pfam_domain:PF07679,Gene3D:2.60.40.10,hmmpanther:PTHR23282:SF62,hmmpanther:PTHR23282,PROSITE_profiles:PS50835	MAM domain containing 1 isoform 1				ENSP00000382178		17-Jul	8.28E-06					1.50E-05			rs762117148,COSM3401327,COSM3401326,COSM3401328	17-Jul	.		ENST00000399232	Transcript			spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		ENSG00000139915	g.chr14:47530541G>A	19835			MODERATE		1.74	low	getma.org/?cm=msa&ty=f&p=MDGA2_HUMAN&rb=341&re=435&var=T410M	getma.org/pdb.php?prot=MDGA2_HUMAN&from=341&to=435&var=T410M	getma.org/?cm=var&var=hg19,14,47530541,G,A&fts=all	T410M	--	--	1																																		MDGA2_uc001wwi.3_Missense_Mutation_p.T181M|MDGA2_uc010ani.2_Translation_Start_Site	0,1,1,1			probably_damaging(1)	p.T410M	NM_001113498	NP_001106970		deleterious(0.02)	0,1,1,1	MDGA2_HUMAN	MDGA2	HGNC	Q7Z553	MDGA2_HUMAN			F8WE89_HUMAN		7	1425	-			UPI00001C14FF	410			Ig-like 4.		SNV	MDGA2,missense_variant,p.Thr181Met,ENST00000426342,NM_182830.4;MDGA2,missense_variant,p.Thr410Met,ENST00000399232,NM_001113498.2;MDGA2,missense_variant,p.Thr479Met,ENST00000439988,;MDGA2,missense_variant,p.Thr181Met,ENST00000357362,;MDGA2,missense_variant,p.Thr185Met,ENST00000554762,;MDGA2,missense_variant,p.Thr181Met,ENST00000557238,;MDGA2,missense_variant,p.Thr181Met,ENST00000482848,;	uc001wwj.3	c.1229C>T	1594/5075	2	2			c.1229C>T						14	SNP	c.(1228-1230)ACG>ATG	18	18			ovary(4)|large_intestine(1)|pancreas(1)	6	Broad	MAM domain containing 1 isoform 1			47530541		0.428	ENSG00000139915	9234	g.chr14:47530541G>A	spinal cord motor neuron differentiation	anchored to membrane|plasma membrane								3.537747	KEEP	3	2	-1	27	21	3	2	-1	11.276276	27	21	0.102041	1	0	0	0	0	1	0	0	0	--	--		0	A			MDGA2_uc001wwi.3_Missense_Mutation_p.T181M|MDGA2_uc010ani.2_Translation_Start_Site	44	GBM-06-0192-TP	p.T410M	G	CCCAAAATCCGTGAATTTTAA	NM_001113498	NP_001106970	47530541	Q7Z553	MDGA2_HUMAN	0			7	1425	-	A	A			Missense_Mutation	410			Ig-like 4.			
MDGA2	161357	broad.mit.edu	GRCh37	14	47351248	47351248	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G			TCGA-06-0875-01	TCGA-06-0875-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000426342.1:c.1521T>C		p.X507_splice	ENST00000426342	NM_182830.4	507	agT/agC	0			1			G	S	uc001wwj.3	protein_coding		CCDS45098.3			2208/2871									ovary(4)|large_intestine(1)|pancreas(1)	6	c.(2206-2208)AGT>AGC			hmmpanther:PTHR23282:SF62,hmmpanther:PTHR23282,PROSITE_profiles:PS50853	MAM domain containing 1 isoform 1				ENSP00000382178		17-Nov									COSM3401321,COSM3401320,COSM3401322	17-Nov	.		ENST00000399232	Transcript			spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		ENSG00000139915	g.chr14:47351248A>G	19835			LOW								--	--	1																																		MDGA2_uc001wwh.3_5'UTR|MDGA2_uc001wwi.3_Silent_p.S507S|MDGA2_uc010ani.2_Silent_p.S296S	1,1,1				p.S736S	NM_001113498	NP_001106970			1,1,1	MDGA2_HUMAN	MDGA2	HGNC	Q7Z553	MDGA2_HUMAN			F8WE89_HUMAN		11	2404	-			UPI00001C14FF	736					SNV	MDGA2,splice_region_variant,p.=,ENST00000426342,NM_182830.4;MDGA2,splice_region_variant,p.=,ENST00000399232,NM_001113498.2;MDGA2,splice_region_variant,p.=,ENST00000439988,;MDGA2,splice_region_variant,p.=,ENST00000357362,;MDGA2,splice_region_variant,,ENST00000399222,;MDGA2,splice_region_variant,,ENST00000557238,;MDGA2,splice_region_variant,,ENST00000555521,;MDGA2,splice_region_variant,,ENST00000557516,;	uc001wwj.3	c.2208T>C	2573/5075	4	4			c.2208T>C						14	SNP	c.(2206-2208)AGT>AGC	30	30			ovary(4)|large_intestine(1)|pancreas(1)	6	Broad	MAM domain containing 1 isoform 1			47351248		0.313	ENSG00000139915	9234	g.chr14:47351248A>G	spinal cord motor neuron differentiation	anchored to membrane|plasma membrane								10.092898	KEEP	1	3	-1	5	6	1	3	-1	10.830811	5	6	0.266667	1	0	0	0	0	0	0	1	0	--	--		0	G			MDGA2_uc001wwh.3_5'UTR|MDGA2_uc001wwi.3_Silent_p.S507S|MDGA2_uc010ani.2_Silent_p.S296S	71	GBM-06-0875-TP	p.S736S	A	GCTACTTACCACTATATTTGA	NM_001113498	NP_001106970	47351248	Q7Z553	MDGA2_HUMAN	0			11	2404	-	G	G			Silent	736						
MDGA2	0	broad.mit.edu	GRCh37	14	47389235	47389235	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-2620-01	TCGA-19-2620-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399232.2:c.2011T>C	p.Tyr671His	p.Y671H	ENST00000399232	NM_001113498.2	671	Tac/Cac	0			1			G	Y/H	uc001wwj.3	protein_coding		CCDS45098.3			2011/2871									ovary(4)|large_intestine(1)|pancreas(1)	6	c.(2011-2013)TAC>CAC			Superfamily_domains:SSF49265,Gene3D:2.60.40.10,hmmpanther:PTHR23282:SF62,hmmpanther:PTHR23282,PROSITE_profiles:PS50853	MAM domain containing 1 isoform 1				ENSP00000382178		17-Oct									COSM3401324,COSM3401323,COSM3401325	17-Oct	.		ENST00000399232	Transcript			spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		ENSG00000139915	g.chr14:47389235A>G	19835			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=MDGA2_HUMAN&rb=628&re=747&var=Y671H	NA	getma.org/?cm=var&var=hg19,14,47389235,A,G&fts=all	Y671H	--	--	1																																		MDGA2_uc001wwi.3_Missense_Mutation_p.Y442H|MDGA2_uc010ani.2_Missense_Mutation_p.Y231H	1,1,1			possibly_damaging(0.758)	p.Y671H	NM_001113498	NP_001106970		deleterious(0)	1,1,1	MDGA2_HUMAN	MDGA2	HGNC	Q7Z553	MDGA2_HUMAN			F8WE89_HUMAN		10	2207	-			UPI00001C14FF	671					SNV	MDGA2,missense_variant,p.Tyr442His,ENST00000426342,NM_182830.4;MDGA2,missense_variant,p.Tyr671His,ENST00000399232,NM_001113498.2;MDGA2,missense_variant,p.Tyr740His,ENST00000439988,;MDGA2,missense_variant,p.Tyr442His,ENST00000357362,;MDGA2,3_prime_UTR_variant,,ENST00000557238,;MDGA2,non_coding_transcript_exon_variant,,ENST00000555521,;	uc001wwj.3	c.2011T>C	2376/5075	3	3			c.2011T>C						14	SNP	c.(2011-2013)TAC>CAC	2	2			ovary(4)|large_intestine(1)|pancreas(1)	6	Broad	MAM domain containing 1 isoform 1			47389235		0.423	ENSG00000139915	9234	g.chr14:47389235A>G	spinal cord motor neuron differentiation	anchored to membrane|plasma membrane								71.26793	KEEP	17	5	-1	18	14	17	5	-1	71.687335	18	14	0.403846	1	0	0	0	0	1	0	0	0	--	--		0	G			MDGA2_uc001wwi.3_Missense_Mutation_p.Y442H|MDGA2_uc010ani.2_Missense_Mutation_p.Y231H	162	GBM-19-2620-TP	p.Y671H	A	CCCAACCGGTATGCAACAATC	NM_001113498	NP_001106970	47389235	Q7Z553	MDGA2_HUMAN	0			10	2207	-	G	G			Missense_Mutation	671						
MDM1	56890	broad.mit.edu	GRCh37	12	68716856	68716856	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0158-01	TCGA-06-0158-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303145.7:c.798G>A	p.Arg266=	p.R266=	ENST00000303145	NM_017440.4	266	agG/agA	0			1			T	R	uc001stz.2	protein_coding	YES	CCDS8983.1			798/2145									ovary(3)|skin(2)	5	c.(796-798)AGG>AGA			Pfam_domain:PF15501,hmmpanther:PTHR32078	mouse Mdm1 nuclear protein homolog isoform 1				ENSP00000302537		14-May									COSM2150128	14-May	.		ENST00000303145	Transcript				nucleus		ENSG00000111554	g.chr12:68716856C>T	29917			LOW								--	--	1																																		MDM1_uc010stc.1_Silent_p.R221R|MDM1_uc009zqv.1_5'UTR	1	1			p.R266R	NM_017440	NP_059136			1	MDM1_HUMAN	MDM1	HGNC	Q8TC05	MDM1_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)	F5H804_HUMAN		5	934	-			UPI00001FC70C	266					SNV	MDM1,synonymous_variant,p.=,ENST00000303145,NM_017440.4;MDM1,synonymous_variant,p.=,ENST00000411698,NM_001205028.1;MDM1,synonymous_variant,p.=,ENST00000541686,;MDM1,5_prime_UTR_variant,,ENST00000540418,;MDM1,downstream_gene_variant,,ENST00000393543,;MDM1,downstream_gene_variant,,ENST00000430606,NM_001205029.1,NM_020128.2;MDM1,non_coding_transcript_exon_variant,,ENST00000540476,;MDM1,downstream_gene_variant,,ENST00000545724,;MDM1,non_coding_transcript_exon_variant,,ENST00000538454,;MDM1,non_coding_transcript_exon_variant,,ENST00000536997,;	uc001stz.2	c.798G>A	885/2918	2	2			c.798G>A						12	SNP	c.(796-798)AGG>AGA	33	33			ovary(3)|skin(2)	5	Broad	mouse Mdm1 nuclear protein homolog isoform 1			68716856		0.328	ENSG00000111554	9239	g.chr12:68716856C>T		nucleus								109.33449	KEEP	22	20	-1	42	44	22	20	-1	112.319715	42	44	0.327434	1	0	0	0	0	0	0	1	0	--	--		0	T			MDM1_uc010stc.1_Silent_p.R221R|MDM1_uc009zqv.1_5'UTR	29	GBM-06-0158-TP	p.R266R	C	TGAATACCTTCCTTTCAGGAG	NM_017440	NP_059136	68716856	Q8TC05	MDM1_HUMAN	0	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)	5	934	-	T	T			Silent	266						
MDM1	0	broad.mit.edu	GRCh37	12	68719231	68719231	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01	TCGA-15-0742-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303145.7:c.623C>T	p.Ala208Val	p.A208V	ENST00000303145	NM_017440.4	208	gCa/gTa	0			1			A	A/V	uc001stz.2	protein_coding	YES	CCDS8983.1			623/2145									ovary(3)|skin(2)	5	c.(622-624)GCA>GTA			Pfam_domain:PF15501,hmmpanther:PTHR32078	mouse Mdm1 nuclear protein homolog isoform 1				ENSP00000302537		14-Apr									COSM3399017	14-Apr	.		ENST00000303145	Transcript				nucleus		ENSG00000111554	g.chr12:68719231G>A	29917			MODERATE		2.295	medium	getma.org/?cm=msa&ty=f&p=MDM1_HUMAN&rb=1&re=712&var=A208V	NA	getma.org/?cm=var&var=hg19,12,68719231,G,A&fts=all	A208V	--	--	1																																		MDM1_uc010stc.1_Intron|MDM1_uc009zqv.1_5'UTR|MDM1_uc001sua.3_3'UTR|MDM1_uc010std.1_3'UTR	1	1		benign(0.353)	p.A208V	NM_017440	NP_059136		deleterious(0.01)	1	MDM1_HUMAN	MDM1	HGNC	Q8TC05	MDM1_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)	F5H804_HUMAN		4	759	-			UPI00001FC70C	208					SNV	MDM1,missense_variant,p.Ala208Val,ENST00000303145,NM_017440.4;MDM1,missense_variant,p.Ala203Val,ENST00000541686,;MDM1,3_prime_UTR_variant,,ENST00000393543,;MDM1,5_prime_UTR_variant,,ENST00000540418,;MDM1,3_prime_UTR_variant,,ENST00000430606,NM_001205029.1,NM_020128.2;MDM1,intron_variant,,ENST00000411698,NM_001205028.1;MDM1,non_coding_transcript_exon_variant,,ENST00000545724,;MDM1,non_coding_transcript_exon_variant,,ENST00000540476,;MDM1,upstream_gene_variant,,ENST00000538454,;MDM1,upstream_gene_variant,,ENST00000536997,;	uc001stz.2	c.623C>T	710/2918	2	2			c.623C>T						12	SNP	c.(622-624)GCA>GTA	44	44			ovary(3)|skin(2)	5	Broad	mouse Mdm1 nuclear protein homolog isoform 1			68719231		0.338	ENSG00000111554	9239	g.chr12:68719231G>A		nucleus								-63.569331	KEEP	2	3	-1	170	147	2	3	-1	7.770038	170	147	0.018315	1	0	0	0	0	1	0	0	0	--	--		0	A			MDM1_uc010stc.1_Intron|MDM1_uc009zqv.1_5'UTR|MDM1_uc001sua.3_3'UTR|MDM1_uc010std.1_3'UTR	153	GBM-15-0742-TP	p.A208V	G	CTGATTGGCTGCAAAAGCTGG	NM_017440	NP_059136	68719231	Q8TC05	MDM1_HUMAN	0	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)	4	759	-	A	A			Missense_Mutation	208						
MDM2	4193	broad.mit.edu	GRCh37	12	69210697	69210697	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01	TCGA-06-0155-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000462284.1:c.280G>A	p.Val94Met	p.V94M	ENST00000462284	NM_002392.5	94	Gtg/Atg	0			1			A	V/M	uc001sui.2	protein_coding	YES	CCDS8986.2			280/1494	A				sarcoma|glioma|colorectal|other				lung(2)|central_nervous_system(1)	3	c.(280-282)GTG>ATG			Gene3D:1.10.245.10,Pfam_domain:PF02201,PIRSF_domain:PIRSF006748,PIRSF_domain:PIRSF500700,hmmpanther:PTHR10360,hmmpanther:PTHR10360:SF11,Superfamily_domains:SSF47592	mouse double minute 2 homolog isoform MDM2				ENSP00000417281		11-Apr									COSM3399021,COSM3399020	11-Apr	.		ENST00000462284	Transcript	1		cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000135679	g.chr12:69210697G>A	6973			MODERATE		2.28	medium	getma.org/?cm=msa&ty=f&p=MDM2_HUMAN&rb=27&re=102&var=V88M	getma.org/pdb.php?prot=MDM2_HUMAN&from=27&to=102&var=V88M	getma.org/?cm=var&var=hg19,12,69210697,G,A&fts=all	V88M	--	--	1																																		MDM2_uc009zri.2_Intron|MDM2_uc009zqx.2_Missense_Mutation_p.V94M|MDM2_uc009zqw.2_Missense_Mutation_p.V94M|MDM2_uc001suk.2_Intron|MDM2_uc009zqy.1_Missense_Mutation_p.V83M|MDM2_uc001sun.3_Intron|MDM2_uc009zqz.2_Missense_Mutation_p.V88M|MDM2_uc009zra.2_Intron|MDM2_uc009zrb.1_RNA|MDM2_uc001sum.1_Intron|MDM2_uc009zrd.2_Intron|MDM2_uc009zrc.2_Intron|MDM2_uc009zre.2_Intron|MDM2_uc009zrf.2_Intron|MDM2_uc001suo.2_Intron|MDM2_uc009zrg.2_Intron|MDM2_uc009zrh.2_Intron	1,1	1		probably_damaging(0.989)	p.V94M	NM_002392	NP_002383		deleterious(0)	1,1	MDM2_HUMAN	MDM2	HGNC	Q00987	MDM2_HUMAN	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		Q546E6_HUMAN,A8WFP2_HUMAN,A7UKY0_HUMAN		4	567	+	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		UPI00006CA35C	88			Necessary for interaction with USP2.|SWIB.		SNV	MDM2,missense_variant,p.Val94Met,ENST00000462284,NM_002392.5;MDM2,missense_variant,p.Val88Met,ENST00000258149,NM_001145339.2;MDM2,missense_variant,p.Val63Met,ENST00000350057,;MDM2,missense_variant,p.Val94Met,ENST00000258148,;MDM2,missense_variant,p.Val88Met,ENST00000539479,;MDM2,missense_variant,p.Val88Met,ENST00000393415,NM_001145337.2;MDM2,missense_variant,p.Val119Met,ENST00000393416,;MDM2,intron_variant,,ENST00000356290,;MDM2,intron_variant,,ENST00000540827,;MDM2,intron_variant,,ENST00000428863,;MDM2,intron_variant,,ENST00000393412,;MDM2,intron_variant,,ENST00000299252,;MDM2,intron_variant,,ENST00000360430,;MDM2,intron_variant,,ENST00000348801,;MDM2,intron_variant,,ENST00000393410,;MDM2,intron_variant,,ENST00000478070,;MDM2,intron_variant,,ENST00000393413,;MDM2,intron_variant,,ENST00000523991,NM_001278462.1;MDM2,intron_variant,,ENST00000543323,NM_001145340.2;MDM2,intron_variant,,ENST00000545204,;MDM2,intron_variant,,ENST00000517852,;MDM2,intron_variant,,ENST00000544561,;MDM2,missense_variant,p.Val88Met,ENST00000540352,;MDM2,3_prime_UTR_variant,,ENST00000393417,;MDM2,non_coding_transcript_exon_variant,,ENST00000493419,;MDM2,non_coding_transcript_exon_variant,,ENST00000471946,;MDM2,intron_variant,,ENST00000311420,;MDM2,intron_variant,,ENST00000536089,;MDM2,intron_variant,,ENST00000542502,;MDM2,intron_variant,,ENST00000481186,;MDM2,intron_variant,,ENST00000537182,;MDM2,intron_variant,,ENST00000496959,;MDM2,intron_variant,,ENST00000546048,;	uc001sui.2	c.280G>A	582/7381	2	2			c.280G>A	A				sarcoma|glioma|colorectal|other	12	SNP	c.(280-282)GTG>ATG	47	47			lung(2)|central_nervous_system(1)	3	Broad	mouse double minute 2 homolog isoform MDM2			69210697		0.363	ENSG00000135679	9240	g.chr12:69210697G>A	cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			221			221	-33.818799	KEEP	4	0	-1	82	90	4	0	-1	6.776691	82	90	0.024691	1	0	0	0	0	1	0	0	0	--	--		0	A			MDM2_uc009zri.2_Intron|MDM2_uc009zqx.2_Missense_Mutation_p.V94M|MDM2_uc009zqw.2_Missense_Mutation_p.V94M|MDM2_uc001suk.2_Intron|MDM2_uc009zqy.1_Missense_Mutation_p.V83M|MDM2_uc001sun.3_Intron|MDM2_uc009zqz.2_Missense_Mutation_p.V88M|MDM2_uc009zra.2_Intron|MDM2_uc009zrb.1_RNA|MDM2_uc001sum.1_Intron|MDM2_uc009zrd.2_Intron|MDM2_uc009zrc.2_Intron|MDM2_uc009zre.2_Intron|MDM2_uc009zrf.2_Intron|MDM2_uc001suo.2_Intron|MDM2_uc009zrg.2_Intron|MDM2_uc009zrh.2_Intron	27	GBM-06-0155-TP	p.V94M	G	TTTGTTTGGCGTGCCAAGCTT	NM_002392	NP_002383	69210697	Q00987	MDM2_HUMAN	0	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		4	567	+	A	A	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		Missense_Mutation	88			Necessary for interaction with USP2.|SWIB.			
MDM2	0	broad.mit.edu	GRCh37	12	69229607	69229607	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G			TCGA-12-0618-01	TCGA-12-0618-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000462284.1:c.685-2A>G		p.X229_splice	ENST00000462284	NM_002392.5			0			1			G		uc001sui.2	protein_coding	YES	CCDS8986.2			685/1494	A				sarcoma|glioma|colorectal|other				lung(2)|central_nervous_system(1)	3	c.e9-2				mouse double minute 2 homolog isoform MDM2				ENSP00000417281											COSM3399023,COSM3399022		.		ENST00000462284	Transcript	1		cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000135679	g.chr12:69229607A>G	6973			HIGH	10-Aug							--	--	1																																		MDM2_uc009zri.2_Splice_Site_p.D184_splice|MDM2_uc009zqx.2_Splice_Site_p.D174_splice|MDM2_uc009zqw.2_Intron|MDM2_uc001suk.2_Intron|MDM2_uc009zqy.1_Splice_Site_p.D218_splice|MDM2_uc001sun.3_Splice_Site_p.D48_splice|MDM2_uc009zqz.2_Splice_Site_p.D223_splice|MDM2_uc009zra.2_Splice_Site_p.D53_splice|MDM2_uc001sum.1_Intron|MDM2_uc009zrd.2_Splice_Site|MDM2_uc009zrc.2_Intron|MDM2_uc009zre.2_Intron|MDM2_uc009zrf.2_Intron|MDM2_uc001suo.2_Splice_Site_p.D23_splice|MDM2_uc009zrg.2_Intron|MDM2_uc009zrh.2_Splice_Site_p.D23_splice	1,1	1			p.D229_splice	NM_002392	NP_002383			1,1	MDM2_HUMAN	MDM2	HGNC	Q00987	MDM2_HUMAN	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		Q546E6_HUMAN,A8WFP2_HUMAN,A7UKY0_HUMAN		9	972	+	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		UPI00006CA35C						SNV	MDM2,splice_acceptor_variant,,ENST00000462284,NM_002392.5;MDM2,splice_acceptor_variant,,ENST00000258149,NM_001145339.2;MDM2,splice_acceptor_variant,,ENST00000356290,;MDM2,splice_acceptor_variant,,ENST00000540827,;MDM2,splice_acceptor_variant,,ENST00000428863,;MDM2,splice_acceptor_variant,,ENST00000350057,;MDM2,splice_acceptor_variant,,ENST00000258148,;MDM2,splice_acceptor_variant,,ENST00000299252,;MDM2,splice_acceptor_variant,,ENST00000360430,;MDM2,splice_acceptor_variant,,ENST00000539479,;MDM2,splice_acceptor_variant,,ENST00000393415,NM_001145337.2;MDM2,splice_acceptor_variant,,ENST00000348801,;MDM2,splice_acceptor_variant,,ENST00000523991,NM_001278462.1;MDM2,splice_acceptor_variant,,ENST00000543323,NM_001145340.2;MDM2,intron_variant,,ENST00000393412,;MDM2,intron_variant,,ENST00000393410,;MDM2,intron_variant,,ENST00000478070,;MDM2,intron_variant,,ENST00000393413,;MDM2,intron_variant,,ENST00000545204,;MDM2,intron_variant,,ENST00000517852,;MDM2,intron_variant,,ENST00000544561,;MDM2,splice_acceptor_variant,,ENST00000393417,;MDM2,splice_acceptor_variant,,ENST00000311420,;MDM2,splice_acceptor_variant,,ENST00000540352,;MDM2,splice_acceptor_variant,,ENST00000536089,;MDM2,splice_acceptor_variant,,ENST00000542502,;MDM2,splice_acceptor_variant,,ENST00000481186,;MDM2,intron_variant,,ENST00000537182,;MDM2,intron_variant,,ENST00000496959,;MDM2,intron_variant,,ENST00000546048,;	uc001sui.2	c.685_splice	-/7381	5	4			c.685_splice	A				sarcoma|glioma|colorectal|other	12	SNP	c.e9-2	29	29			lung(2)|central_nervous_system(1)	3	Broad	mouse double minute 2 homolog isoform MDM2			69229607		0.398	ENSG00000135679	9240	g.chr12:69229607A>G	cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			221			221	-43.539783	KEEP	2	1	-1	92	113	2	1	-1	6.644292	92	113	0.015873	1	0	0	0	0	0	0	0	1	--	--		0	G			MDM2_uc009zri.2_Splice_Site_p.D184_splice|MDM2_uc009zqx.2_Splice_Site_p.D174_splice|MDM2_uc009zqw.2_Intron|MDM2_uc001suk.2_Intron|MDM2_uc009zqy.1_Splice_Site_p.D218_splice|MDM2_uc001sun.3_Splice_Site_p.D48_splice|MDM2_uc009zqz.2_Splice_Site_p.D223_splice|MDM2_uc009zra.2_Splice_Site_p.D53_splice|MDM2_uc001sum.1_Intron|MDM2_uc009zrd.2_Splice_Site|MDM2_uc009zrc.2_Intron|MDM2_uc009zre.2_Intron|MDM2_uc009zrf.2_Intron|MDM2_uc001suo.2_Splice_Site_p.D23_splice|MDM2_uc009zrg.2_Intron|MDM2_uc009zrh.2_Splice_Site_p.D23_splice	119	GBM-12-0618-TP	p.D229_splice	A	TTCTTGTTTTAGGATCTTGAT	NM_002392	NP_002383	69229607	Q00987	MDM2_HUMAN	0	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		9	972	+	G	G	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		Splice_Site							
MDN1	23195	broad.mit.edu	GRCh37	6	90387330	90387330	+	synonymous_variant	Silent	SNP	G	G	A	rs116003199	by1000genomes	TCGA-06-0879-01	TCGA-06-0879-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369393.3:c.12498C>T	p.Ser4166=	p.S4166=	ENST00000369393		4166	agC/agT	0	A:0	A:0.0008	1	A:0		A	S	uc003pnn.1	protein_coding	YES	CCDS5024.1			12498/16791									ovary(8)|skin(2)	10	c.(12496-12498)AGC>AGT			PIRSF_domain:PIRSF010340,hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF58	MDN1, midasin homolog		A:0	A:0.0001	ENSP00000358400	A:0	76/102	5.77E-05	0.000192				4.50E-05		0.000121	rs116003199,COSM2152312	76/102	.		ENST00000369393	Transcript		A:0.0002	protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	ENSG00000112159	g.chr6:90387330G>A	18302			LOW								--	--	1																																			0,1	1			p.S4166S	NM_014611	NP_055426	A:0		0,1	MDN1_HUMAN	MDN1	HGNC	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	M0QXR3_HUMAN		76	12614	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	UPI000013C4B8	4166					SNV	MDN1,synonymous_variant,p.=,ENST00000369393,;MDN1,synonymous_variant,p.=,ENST00000428876,NM_014611.1;RP1-122O8.7,downstream_gene_variant,,ENST00000438877,;	uc003pnn.1	c.12498C>T	12614/18413	2	2			c.12498C>T						6	SNP	c.(12496-12498)AGC>AGT	22	22			ovary(8)|skin(2)	10	Broad	MDN1, midasin homolog			90387330		0.423	ENSG00000112159	9242	g.chr6:90387330G>A	protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding							126.272048	KEEP	24	28	-1	43	52	24	28	-1	129.497663	43	52	0.338129	1	0	0	0	0	0	0	1	0	--	--		0	A				75	GBM-06-0879-TP	p.S4166S	G	TGGACAATGCGCTCTGGAGAT	NM_014611	NP_055426	90387330	Q9NU22	MDN1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.0193)	76	12614	-	A	A		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	Silent	4166						
MDN1	0	broad.mit.edu	GRCh37	6	90362720	90362720	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-27-1835-01	TCGA-27-1835-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369393.3:c.15816delG	p.Ile5273SerfsTer6	p.I5273Sfs*6	ENST00000369393		5272	acG/ac	0			1			-	T/X	uc003pnn.1	protein_coding	YES	CCDS5024.1			15816/16791									ovary(8)|skin(2)	10	c.(15814-15816)ACGfs			PIRSF_domain:PIRSF010340,hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF58	MDN1, midasin homolog				ENSP00000358400		94/102									COSM2157247	94/102	.		ENST00000369393	Transcript			protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	ENSG00000112159	g.chr6:90362720delC	18302			HIGH								--	--	1																																			1	1			p.T5272fs	NM_014611	NP_055426			1	MDN1_HUMAN	MDN1	HGNC	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	M0QXR3_HUMAN		94	15932	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	UPI000013C4B8	5272					deletion	MDN1,frameshift_variant,p.Ile5273SerfsTer6,ENST00000369393,;MDN1,frameshift_variant,p.Ile5273SerfsTer6,ENST00000428876,NM_014611.1;	uc003pnn.1	c.15816delG	15932/18413	5	5			c.15816delG						6	DEL	c.(15814-15816)ACGfs	32	32			ovary(8)|skin(2)	10	Broad	MDN1, midasin homolog			90362720		0.333	ENSG00000112159	9242	g.chr6:90362720delC	protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding																				0.37	1	1	0	1	0	0	0	0	0	--	--		0	-				194	GBM-27-1835-TP	p.T5272fs	C	CCTGGAAGATCGTGTCCATGA	NM_014611	NP_055426	90362720	Q9NU22	MDN1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.0193)	94	15932	-	-	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	Frame_Shift_Del	5272						
MDP1	145553	broad.mit.edu	GRCh37	14	24683351	24683351	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288087.7:c.410C>T	p.Thr137Ile	p.T137I	ENST00000288087	NM_138476.3	137	aCc/aTc	0			1			A	T/I	uc001wnl.1	protein_coding	YES	CCDS9620.1			410/531										0	c.(409-411)ACC>ATC			Gene3D:3.40.50.1000,Pfam_domain:PF12689,hmmpanther:PTHR17901,hmmpanther:PTHR17901:SF13,Superfamily_domains:SSF56784,TIGRFAM_domain:TIGR01685	magnesium-dependent phosphatase 1				ENSP00000288087		6-Jun	8.24E-06							6.18E-05	rs764385329,COSM2151235	6-Jun	.		ENST00000288087	Transcript					metal ion binding|protein tyrosine phosphatase activity	ENSG00000213920	g.chr14:24683351G>A	28781			MODERATE								--	--	1																																		TM9SF1_uc010tob.1_5'UTR|CHMP4A_uc001wni.2_5'Flank|CHMP4A_uc010toc.1_RNA|CHMP4A_uc001wnj.2_5'UTR|MDP1_uc001wnk.1_3'UTR|CHMP4A_uc001wnm.1_Silent_p.Y90Y	0,1	1		possibly_damaging(0.661)	p.T137I	NM_138476	NP_612485		tolerated(0.21)	0,1	MGDP1_HUMAN	MDP1	HGNC	Q86V88	MGDP1_HUMAN			B2R528_HUMAN		6	490	-			UPI00001969C5	137					SNV	MDP1,missense_variant,p.Thr137Ile,ENST00000288087,NM_138476.3,NM_001199822.1;NEDD8-MDP1,missense_variant,p.Thr154Ile,ENST00000534348,NM_001199823.1;MDP1,synonymous_variant,p.=,ENST00000396833,NM_001199821.1;TM9SF1,upstream_gene_variant,,ENST00000530611,;TM9SF1,upstream_gene_variant,,ENST00000556387,;CHMP4A,upstream_gene_variant,,ENST00000347519,NM_014169.3;CHMP4A,upstream_gene_variant,,ENST00000530996,;CHMP4A,upstream_gene_variant,,ENST00000609024,;CHMP4A,upstream_gene_variant,,ENST00000533011,;NEDD8,downstream_gene_variant,,ENST00000250495,NM_006156.2;NEDD8,downstream_gene_variant,,ENST00000524927,;MDP1,non_coding_transcript_exon_variant,,ENST00000532557,;MDP1,non_coding_transcript_exon_variant,,ENST00000525696,;NEDD8,downstream_gene_variant,,ENST00000527046,;CHMP4A,upstream_gene_variant,,ENST00000542700,;NEDD8-MDP1,downstream_gene_variant,,ENST00000604306,;NEDD8,downstream_gene_variant,,ENST00000531430,;CHMP4A,upstream_gene_variant,,ENST00000531158,;NEDD8,downstream_gene_variant,,ENST00000526430,;NEDD8-MDP1,3_prime_UTR_variant,,ENST00000605847,;AL136419.6,non_coding_transcript_exon_variant,,ENST00000565988,;AL136419.6,non_coding_transcript_exon_variant,,ENST00000528804,;MDP1,non_coding_transcript_exon_variant,,ENST00000530222,;MDP1,non_coding_transcript_exon_variant,,ENST00000533536,;MDP1,non_coding_transcript_exon_variant,,ENST00000531553,;CHMP4A,upstream_gene_variant,,ENST00000533523,;MDP1,downstream_gene_variant,,ENST00000466422,;CHMP4A,upstream_gene_variant,,ENST00000552620,;NEDD8,downstream_gene_variant,,ENST00000560427,;NEDD8,downstream_gene_variant,,ENST00000396828,;MDP1,downstream_gene_variant,,ENST00000532742,;CHMP4A,upstream_gene_variant,,ENST00000527154,;MDP1,downstream_gene_variant,,ENST00000528849,;NEDD8-MDP1,downstream_gene_variant,,ENST00000530579,;CHMP4A,upstream_gene_variant,,ENST00000534106,;CHMP4A,upstream_gene_variant,,ENST00000524955,;	uc001wnl.1	c.410C>T	522/730	2	2			c.410C>T						14	SNP	c.(409-411)ACC>ATC	42	42				0	Broad	magnesium-dependent phosphatase 1			24683351		0.433	ENSG00000213920	9243	g.chr14:24683351G>A			metal ion binding|protein tyrosine phosphatase activity							202.297042	KEEP	43	34	-1	47	47	43	34	-1	202.715096	47	47	0.443709	1	0	0	0	0	1	0	0	0	--	--		0	A			TM9SF1_uc010tob.1_5'UTR|CHMP4A_uc001wni.2_5'Flank|CHMP4A_uc010toc.1_RNA|CHMP4A_uc001wnj.2_5'UTR|MDP1_uc001wnk.1_3'UTR|CHMP4A_uc001wnm.1_Silent_p.Y90Y	58	GBM-06-0644-TP	p.T137I	G	GTGAATGCAGGTAACACCTAG	NM_138476	NP_612485	24683351	Q86V88	MGDP1_HUMAN	0			6	490	-	A	A			Missense_Mutation	137						
ME1	0	broad.mit.edu	GRCh37	6	84056027	84056027	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-19-5954-01	TCGA-19-5954-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369705.3:c.465T>C	p.Arg155=	p.R155=	ENST00000369705	NM_002395.4	155	cgT/cgC	0			1			G	R	uc003pjy.2	protein_coding	YES	CCDS34492.1			465/1719									upper_aerodigestive_tract(1)|ovary(1)	2	c.(463-465)CGT>CGC			hmmpanther:PTHR23406,hmmpanther:PTHR23406:SF17,Pfam_domain:PF00390,Gene3D:3.40.50.10380,PIRSF_domain:PIRSF000106,Superfamily_domains:SSF53223,Prints_domain:PR00072	cytosolic malic enzyme 1	NADH(DB00157)			ENSP00000358719		14-May									COSM2156756	14-May	.		ENST00000369705	Transcript			carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	ENSG00000065833	g.chr6:84056027A>G	6983			LOW								--	--	1																																		ME1_uc011dzb.1_Silent_p.R80R|ME1_uc011dzc.1_5'UTR	1	1			p.R155R	NM_002395	NP_002386			1	MAOX_HUMAN	ME1	HGNC	P48163	MAOX_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0641)	F5H4W0_HUMAN,B4DZ70_HUMAN		5	571	-		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)	UPI000000127E	155				NADP (By similarity).	SNV	ME1,synonymous_variant,p.=,ENST00000369705,NM_002395.4;ME1,synonymous_variant,p.=,ENST00000543031,;ME1,5_prime_UTR_variant,,ENST00000541327,;	uc003pjy.2	c.465T>C	582/3371	3	3			c.465T>C						6	SNP	c.(463-465)CGT>CGC	4	4			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	cytosolic malic enzyme 1		NADH(DB00157)	84056027		0.428	ENSG00000065833	9244	g.chr6:84056027A>G	carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding							75.427671	KEEP	11	15	-1	26	25	11	15	-1	77.223761	26	25	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	G			ME1_uc011dzb.1_Silent_p.R80R|ME1_uc011dzc.1_5'UTR	174	GBM-19-5954-TP	p.R155R	A	AGCCAAGAATACGCTCTCCAT	NM_002395	NP_002386	84056027	P48163	MAOX_HUMAN	0		BRCA - Breast invasive adenocarcinoma(397;0.0641)	5	571	-	G	G		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)	Silent	155				NADP (By similarity).		
ME2	0	broad.mit.edu	GRCh37	18	48450505	48450505	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-28-6450-01	TCGA-28-6450-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321341.5:c.1094T>G	p.Phe365Cys	p.F365C	ENST00000321341	NM_002396.4	365	tTt/tGt	0			1			G	F/C	uc002ley.2	protein_coding	YES	CCDS11948.1			1094/1755										0	c.(1093-1095)TTT>TGT			Gene3D:3.40.50.720,Pfam_domain:PF03949,PIRSF_domain:PIRSF000106,hmmpanther:PTHR23406,hmmpanther:PTHR23406:SF12,SMART_domains:SM00919,Superfamily_domains:SSF51735	malic enzyme 2, NAD(+)-dependent, mitochondrial	NADH(DB00157)			ENSP00000321070		16-Nov									COSM3403555	16-Nov	.		ENST00000321341	Transcript			malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	ENSG00000082212	g.chr18:48450505T>G	6984			MODERATE		3.73	high	getma.org/?cm=msa&ty=f&p=MAOM_HUMAN&rb=280&re=535&var=F365C	getma.org/pdb.php?prot=MAOM_HUMAN&from=280&to=535&var=F365C	getma.org/?cm=var&var=hg19,18,48450505,T,G&fts=all	F365C	--	--	1																																		ME2_uc010dpd.2_Missense_Mutation_p.F365C	1	1		probably_damaging(0.975)	p.F365C	NM_002396	NP_002387		deleterious(0)	1	MAOM_HUMAN	ME2	HGNC	P23368	MAOM_HUMAN		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)			11	1350	+		Colorectal(6;0.0273)|all_epithelial(6;0.118)	UPI000012EBAA	365					SNV	ME2,missense_variant,p.Phe365Cys,ENST00000321341,NM_002396.4;ME2,missense_variant,p.Phe365Cys,ENST00000382927,NM_001168335.1;ME2,upstream_gene_variant,,ENST00000585680,;ME2,downstream_gene_variant,,ENST00000589330,;	uc002ley.2	c.1094T>G	1366/3164	3	3			c.1094T>G						18	SNP	c.(1093-1095)TTT>TGT	60	60				0	Broad	malic enzyme 2, NAD(+)-dependent, mitochondrial		NADH(DB00157)	48450505		0.313	ENSG00000082212	9245	g.chr18:48450505T>G	malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding							67.210534	KEEP	6	19	-1	39	30	6	19	-1	71.352821	39	30	0.26506	1	0	0	0	0	1	0	0	0	--	--		0	G			ME2_uc010dpd.2_Missense_Mutation_p.F365C	227	GBM-28-6450-TP	p.F365C	T	CAGGAACCATTTACTCACTCA	NM_002396	NP_002387	48450505	P23368	MAOM_HUMAN	0		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	11	1350	+	G	G		Colorectal(6;0.0273)|all_epithelial(6;0.118)	Missense_Mutation	365						
MECOM	2122	broad.mit.edu	GRCh37	3	169099085	169099085	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0166-01	TCGA-06-0166-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000486748.1:c.337G>T	p.Gly113Trp	p.G113W	ENST00000486748		113	Ggg/Tgg	0			1			A	G/W	uc011bpj.1	protein_coding					265/3693									lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14	c.(265-267)GGG>TGG			Gene3D:2.170.270.10,PROSITE_profiles:PS50280,SMART_domains:SM00317,Superfamily_domains:SSF82199	MDS1 and EVI1 complex locus isoform c				ENSP00000417899		16-Feb									COSM3408416	16-Feb	.		ENST00000494292	Transcript	1		apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000085276	g.chr3:169099085C>A	3498			MODERATE		2.42	medium	getma.org/?cm=msa&ty=f&p=MDS1_HUMAN&rb=1&re=168&var=G89W	getma.org/pdb.php?prot=MDS1_HUMAN&from=1&to=168&var=G89W	getma.org/?cm=var&var=hg19,3,169099085,C,A&fts=all	G89W	--	--	1																																		MECOM_uc003ffl.2_Missense_Mutation_p.G61W|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Missense_Mutation_p.G89W|MECOM_uc011bpl.1_Missense_Mutation_p.G89W	1	1		probably_damaging(0.993)	p.G89W	NM_004991	NP_004982		deleterious(0)	1		MECOM	HGNC	Q03112	EVI1_HUMAN			Q8IU84_HUMAN,E9PGE9_HUMAN,E7EU48_HUMAN,E7ERX0_HUMAN,E7EQ57_HUMAN,E7EPY2_HUMAN		2	668	-			UPI0001B797A4	Error:Variant_position_missing_in_Q03112_after_alignment					SNV	MECOM,missense_variant,p.Gly89Trp,ENST00000494292,NM_004991.3;MECOM,missense_variant,p.Gly113Trp,ENST00000486748,;MECOM,non_coding_transcript_exon_variant,,ENST00000485957,;	uc011bpj.1	c.265G>T	363/3939	1	1			c.265G>T						3	SNP	c.(265-267)GGG>TGG	52	52			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14	Broad	MDS1 and EVI1 complex locus isoform c			169099085		0.473	ENSG00000085276	9249	g.chr3:169099085C>A	apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			646			646	0.33235	KEEP	12	6	0.333333333	106	105	12	6	0.333333333	36.858887	106	105	0.079208	1	0	0	0	0	1	0	0	0	--	--		0	A			MECOM_uc003ffl.2_Missense_Mutation_p.G61W|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Missense_Mutation_p.G89W|MECOM_uc011bpl.1_Missense_Mutation_p.G89W	31	GBM-06-0166-TP	p.G89W	C	AGTCCTGCCCCAGGCATATTT	NM_004991	NP_004982	169099085	Q03112	EVI1_HUMAN	0			2	668	-	A	A			Missense_Mutation	Error:Variant_position_missing_in_Q03112_after_alignment						
MECOM	0	broad.mit.edu	GRCh37	3	168833869	168833869	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-1970-01	TCGA-32-1970-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000468789.1:c.1227G>A	p.Ser409=	p.S409=	ENST00000468789	NM_001105078.3	409	tcG/tcA	0			1			T	S	uc003ffi.3	protein_coding		CCDS3205.1			1227/3156									lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14	c.(1225-1227)TCG>TCA			hmmpanther:PTHR24393	MDS1 and EVI1 complex locus isoform b				ENSP00000419995		16-Jul	1.65E-05					1.50E-05		6.06E-05	rs774868800,COSM3408409,COSM3408408	16-Jul	.		ENST00000468789	Transcript	1		apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000085276	g.chr3:168833869C>T	3498			LOW								--	--	1																																		MECOM_uc010hwk.1_Silent_p.S432S|MECOM_uc003ffj.3_Silent_p.S474S|MECOM_uc011bpi.1_Silent_p.S410S|MECOM_uc003ffn.3_Silent_p.S409S|MECOM_uc003ffk.2_Silent_p.S409S|MECOM_uc003ffl.2_Silent_p.S569S|MECOM_uc011bpj.1_Silent_p.S597S|MECOM_uc011bpk.1_Silent_p.S399S|MECOM_uc010hwn.2_Silent_p.S597S	0,1,1				p.S409S	NM_005241	NP_005232			0,1,1	EVI1_HUMAN	MECOM	HGNC	Q03112	EVI1_HUMAN			Q8IU84_HUMAN,E9PGE9_HUMAN,E7EU48_HUMAN,E7ERX0_HUMAN,E7EPY2_HUMAN		7	1496	-			UPI000013D551	409					SNV	MECOM,synonymous_variant,p.=,ENST00000464456,NM_001164000.1;MECOM,synonymous_variant,p.=,ENST00000264674,NM_001105077.3;MECOM,synonymous_variant,p.=,ENST00000392736,NM_005241.3,NM_001205194.1,NM_001163999.1;MECOM,synonymous_variant,p.=,ENST00000494292,NM_004991.3;MECOM,synonymous_variant,p.=,ENST00000468789,NM_001105078.3;MECOM,synonymous_variant,p.=,ENST00000472280,;MECOM,synonymous_variant,p.=,ENST00000433243,;MECOM,synonymous_variant,p.=,ENST00000460814,;MECOM,intron_variant,,ENST00000492586,;MECOM,downstream_gene_variant,,ENST00000461430,;	uc003ffi.3	c.1227G>A	1615/3691	2	2			c.1227G>A						3	SNP	c.(1225-1227)TCG>TCA	34	34			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14	Broad	MDS1 and EVI1 complex locus isoform b			168833869		0.423	ENSG00000085276	9249	g.chr3:168833869C>T	apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding		p.S409S(ZR7530-Tumor)	646		p.S409S(ZR7530-Tumor)	646	283.674335	KEEP	49	45	-1	49	38	49	45	-1	283.721919	49	38	0.518293	1	0	0	0	0	0	0	1	0	--	--		0	T			MECOM_uc010hwk.1_Silent_p.S432S|MECOM_uc003ffj.3_Silent_p.S474S|MECOM_uc011bpi.1_Silent_p.S410S|MECOM_uc003ffn.3_Silent_p.S409S|MECOM_uc003ffk.2_Silent_p.S409S|MECOM_uc003ffl.2_Silent_p.S569S|MECOM_uc011bpj.1_Silent_p.S597S|MECOM_uc011bpk.1_Silent_p.S399S|MECOM_uc010hwn.2_Silent_p.S597S	228	GBM-32-1970-TP	p.S409S	C	GATCAGAGCCCGAGGTTGTTT	NM_005241	NP_005232	168833869	Q03112	EVI1_HUMAN	0			7	1496	-	T	T			Silent	409						
MECOM	0	broad.mit.edu	GRCh37	3	168849257	168849257	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4928-01	TCGA-76-4928-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000468789.1:c.9C>T	p.Ser3=	p.S3=	ENST00000468789	NM_001105078.3	3	agC/agT	0			1			A	S	uc003ffi.3	protein_coding		CCDS3205.1			Sep-56									lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14	c.(7-9)AGC>AGT			hmmpanther:PTHR24393	MDS1 and EVI1 complex locus isoform b				ENSP00000419995		16-Mar	8.24E-06					1.50E-05			rs775007213,COSM3408415,COSM3408414	16-Mar	.		ENST00000468789	Transcript	1		apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000085276	g.chr3:168849257G>A	3498			LOW								--	--	1																																		MECOM_uc010hwk.1_Silent_p.S26S|MECOM_uc003ffj.3_Silent_p.S67S|MECOM_uc011bpi.1_Silent_p.S3S|MECOM_uc003ffn.3_Silent_p.S3S|MECOM_uc003ffk.2_Silent_p.S3S|MECOM_uc003ffl.2_Silent_p.S163S|MECOM_uc011bpj.1_Silent_p.S191S|MECOM_uc011bpk.1_5'UTR|MECOM_uc010hwn.2_Silent_p.S191S|MECOM_uc003ffm.1_Silent_p.S67S	0,1,1				p.S3S	NM_005241	NP_005232			0,1,1	EVI1_HUMAN	MECOM	HGNC	Q03112	EVI1_HUMAN			Q8IU84_HUMAN,E9PGE9_HUMAN,E7EU48_HUMAN,E7ERX0_HUMAN,E7EPY2_HUMAN		3	278	-			UPI000013D551	3			Interaction with MAPK9, SMAD3 and probably SUV39H1.		SNV	MECOM,synonymous_variant,p.=,ENST00000464456,NM_001164000.1;MECOM,synonymous_variant,p.=,ENST00000264674,NM_001105077.3;MECOM,synonymous_variant,p.=,ENST00000392736,NM_005241.3,NM_001205194.1,NM_001163999.1;MECOM,synonymous_variant,p.=,ENST00000494292,NM_004991.3;MECOM,synonymous_variant,p.=,ENST00000468789,NM_001105078.3;MECOM,synonymous_variant,p.=,ENST00000472280,;MECOM,synonymous_variant,p.=,ENST00000433243,;MECOM,synonymous_variant,p.=,ENST00000460814,;MECOM,synonymous_variant,p.=,ENST00000460890,;MECOM,synonymous_variant,p.=,ENST00000487503,;MECOM,synonymous_variant,p.=,ENST00000494597,;MECOM,synonymous_variant,p.=,ENST00000484519,;MECOM,synonymous_variant,p.=,ENST00000475754,;MECOM,synonymous_variant,p.=,ENST00000466623,;MECOM,synonymous_variant,p.=,ENST00000481315,;MECOM,upstream_gene_variant,,ENST00000492586,;	uc003ffi.3	c.9C>T	397/3691	1	1			c.9C>T						3	SNP	c.(7-9)AGC>AGT	59	59			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14	Broad	MDS1 and EVI1 complex locus isoform b			168849257		0.458	ENSG00000085276	9249	g.chr3:168849257G>A	apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			646			646	27.264361	KEEP	10	10	-1	43	46	10	10	-1	36.02277	43	46	0.182796	1	0	0	0	0	0	0	1	0	--	--		0	A			MECOM_uc010hwk.1_Silent_p.S26S|MECOM_uc003ffj.3_Silent_p.S67S|MECOM_uc011bpi.1_Silent_p.S3S|MECOM_uc003ffn.3_Silent_p.S3S|MECOM_uc003ffk.2_Silent_p.S3S|MECOM_uc003ffl.2_Silent_p.S163S|MECOM_uc011bpj.1_Silent_p.S191S|MECOM_uc011bpk.1_5'UTR|MECOM_uc010hwn.2_Silent_p.S191S|MECOM_uc003ffm.1_Silent_p.S67S	268	GBM-76-4928-TP	p.S3S	G	GATAGTCTTCGCTCTTCATGA	NM_005241	NP_005232	168849257	Q03112	EVI1_HUMAN	0			3	278	-	A	A			Silent	3			Interaction with MAPK9, SMAD3 and probably SUV39H1.			
MECR	51102	broad.mit.edu	GRCh37	1	29557372	29557372	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0192-01	TCGA-06-0192-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263702.6:c.47A>C	p.Gln16Pro	p.Q16P	ENST00000263702		16	cAg/cCg	0			1			G	Q/P	uc001brq.1	protein_coding	YES	CCDS30659.1			47/1122									ovary(1)	1	c.(46-48)CAG>CCG				trans-2-enoyl-CoA reductase, mitochondrial				ENSP00000263702		10-Jan									COSM2150660	10-Jan	.		ENST00000263702	Transcript			fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding	ENSG00000116353	g.chr1:29557372T>G	19691			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=MECR_HUMAN&rb=1&re=69&var=Q16P	NA	getma.org/?cm=var&var=hg19,1,29557372,T,G&fts=all	Q16P	--	--	1																																		MECR_uc001brp.1_5'UTR|MECR_uc001brr.1_5'UTR|MECR_uc001brs.1_RNA|MECR_uc001brt.1_5'UTR|MECR_uc010ofz.1_Missense_Mutation_p.Q16P	1	1		benign(0.001)	p.Q16P	NM_016011	NP_057095		tolerated_low_confidence(0.25)	1	MECR_HUMAN	MECR	HGNC	Q9BV79	MECR_HUMAN		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)			1	83	-		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	UPI000013D444	16					SNV	MECR,missense_variant,p.Gln16Pro,ENST00000263702,;MECR,5_prime_UTR_variant,,ENST00000373791,NM_001024732.1,NM_016011.2;MECR,non_coding_transcript_exon_variant,,ENST00000489248,;MECR,non_coding_transcript_exon_variant,,ENST00000463052,;MECR,non_coding_transcript_exon_variant,,ENST00000490529,;MECR,non_coding_transcript_exon_variant,,ENST00000475861,;MECR,non_coding_transcript_exon_variant,,ENST00000474946,;MECR,non_coding_transcript_exon_variant,,ENST00000484012,;MECR,non_coding_transcript_exon_variant,,ENST00000482610,;MECR,non_coding_transcript_exon_variant,,ENST00000493928,;	uc001brq.1	c.47A>C	73/1353	3	3			c.47A>C						1	SNP	c.(46-48)CAG>CCG	1	1			ovary(1)	1	Broad	trans-2-enoyl-CoA reductase, mitochondrial			29557372		0.692	ENSG00000116353	9251	g.chr1:29557372T>G	fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding							24.976801	KEEP	5	9	-1	10	7	5	9	-1	25.01946	10	7	0.45	1	0	0	0	0	1	0	0	0	--	--		0	G			MECR_uc001brp.1_5'UTR|MECR_uc001brr.1_5'UTR|MECR_uc001brs.1_RNA|MECR_uc001brt.1_5'UTR|MECR_uc010ofz.1_Missense_Mutation_p.Q16P	44	GBM-06-0192-TP	p.Q16P	T	CCCCCGCCACTGCCGGGCGGG	NM_016011	NP_057095	29557372	Q9BV79	MECR_HUMAN	0		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)	1	83	-	G	G		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	Missense_Mutation	16						
MED12	9968	broad.mit.edu	GRCh37	X	70351950	70351950	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374080.3:c.4147G>A	p.Ala1383Thr	p.A1383T	ENST00000374080		1383	Gcc/Acc	0			1			A	A/T	uc004dyy.2	protein_coding	YES	CCDS43970.1			4147/6534									ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	c.(4147-4149)GCC>ACC			hmmpanther:PTHR12796,hmmpanther:PTHR12796:SF4	mediator complex subunit 12				ENSP00000363193		30/45									COSM2149690,COSM2149691	30/45	.		ENST00000374080	Transcript	1		androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	ENSG00000184634	g.chrX:70351950G>A	11957			MODERATE		2.415	medium	getma.org/?cm=msa&ty=f&p=MED12_HUMAN&rb=1358&re=1557&var=A1383T	NA	getma.org/?cm=var&var=hg19,X,70351950,G,A&fts=all	A1383T	--	--	1																																		MED12_uc011mpq.1_Missense_Mutation_p.A1383T|MED12_uc004dyz.2_Missense_Mutation_p.A1383T|MED12_uc004dza.2_Missense_Mutation_p.A1230T|MED12_uc010nla.2_Missense_Mutation_p.A9T	1,1	1		probably_damaging(0.981)	p.A1383T	NM_005120	NP_005111			1,1	MED12_HUMAN	MED12	HGNC	Q93074	MED12_HUMAN			Q7Z2F4_HUMAN,Q7Z2F1_HUMAN,Q7Z2E0_HUMAN		30	4346	+	Renal(35;0.156)		UPI00004257E2	1383					SNV	MED12,missense_variant,p.Ala1383Thr,ENST00000333646,NM_005120.2;MED12,missense_variant,p.Ala1383Thr,ENST00000374102,;MED12,missense_variant,p.Ala1383Thr,ENST00000374080,;MED12,upstream_gene_variant,,ENST00000444034,;MED12,downstream_gene_variant,,ENST00000462984,;MED12,downstream_gene_variant,,ENST00000471663,;MED12,downstream_gene_variant,,ENST00000489199,;MED12,downstream_gene_variant,,ENST00000460771,;	uc004dyy.2	c.4147G>A	4179/6795	1	1			c.4147G>A						23	SNP	c.(4147-4149)GCC>ACC	62	62			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Broad	mediator complex subunit 12			70351950		0.507	ENSG00000184634	9255	g.chrX:70351950G>A	androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding							95.885427	KEEP	20	19	-1	25	21	20	19	-1	96.364609	25	21	0.415584	1	0	0	0	0	1	0	0	0	--	--		0	A			MED12_uc011mpq.1_Missense_Mutation_p.A1383T|MED12_uc004dyz.2_Missense_Mutation_p.A1383T|MED12_uc004dza.2_Missense_Mutation_p.A1230T|MED12_uc010nla.2_Missense_Mutation_p.A9T	23	GBM-06-0145-TP	p.A1383T	G	GGAGAACATCGCCAAGGCCAC	NM_005120	NP_005111	70351950	Q93074	MED12_HUMAN	0			30	4346	+	A	A	Renal(35;0.156)		Missense_Mutation	1383						
MED12	0	broad.mit.edu	GRCh37	X	70342412	70342412	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-12-1597-01	TCGA-12-1597-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374080.3:c.1303G>C	p.Val435Leu	p.V435L	ENST00000374080		435	Gtt/Ctt	0			1			C	V/L	uc004dyy.2	protein_coding	YES	CCDS43970.1			1303/6534									ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	c.(1303-1305)GTT>CTT			Pfam_domain:PF12145,hmmpanther:PTHR12796,hmmpanther:PTHR12796:SF4	mediator complex subunit 12				ENSP00000363193		Sep-45									COSM3406556,COSM3406557	Sep-45	.		ENST00000374080	Transcript	1		androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	ENSG00000184634	g.chrX:70342412G>C	11957			MODERATE		2.565	medium	getma.org/?cm=msa&ty=f&p=MED12_HUMAN&rb=285&re=757&var=V435L	NA	getma.org/?cm=var&var=hg19,X,70342412,G,C&fts=all	V435L	--	--	1																																		MED12_uc011mpq.1_Missense_Mutation_p.V435L|MED12_uc004dyz.2_Missense_Mutation_p.V435L|MED12_uc004dza.2_Missense_Mutation_p.V282L	1,1	1		probably_damaging(0.948)	p.V435L	NM_005120	NP_005111			1,1	MED12_HUMAN	MED12	HGNC	Q93074	MED12_HUMAN			Q7Z2F4_HUMAN,Q7Z2F1_HUMAN,Q7Z2E0_HUMAN		9	1502	+	Renal(35;0.156)		UPI00004257E2	435					SNV	MED12,missense_variant,p.Val435Leu,ENST00000333646,NM_005120.2;MED12,missense_variant,p.Val435Leu,ENST00000374102,;MED12,missense_variant,p.Val435Leu,ENST00000374080,;MED12,downstream_gene_variant,,ENST00000429213,;MED12,upstream_gene_variant,,ENST00000462984,;MED12,upstream_gene_variant,,ENST00000471663,;	uc004dyy.2	c.1303G>C	1335/6795	3	3			c.1303G>C						23	SNP	c.(1303-1305)GTT>CTT	52	52			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Broad	mediator complex subunit 12			70342412		0.468	ENSG00000184634	9255	g.chrX:70342412G>C	androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding							174.557413	KEEP	27	26	-1	34	18	27	26	-1	174.648422	34	18	0.534884	1	0	0	0	0	1	0	0	0	--	--		0	C			MED12_uc011mpq.1_Missense_Mutation_p.V435L|MED12_uc004dyz.2_Missense_Mutation_p.V435L|MED12_uc004dza.2_Missense_Mutation_p.V282L	124	GBM-12-1597-TP	p.V435L	G	GGGACAGGCAGTTGAAGTTCG	NM_005120	NP_005111	70342412	Q93074	MED12_HUMAN	0			9	1502	+	C	C	Renal(35;0.156)		Missense_Mutation	435						
MED12	9968		GRCh37	X	70357763	70357763	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000374080.3:c.6014C>A	p.Thr2005Asn	p.T2005N	ENST00000374080		2005	aCc/aAc	0																																																																																																																																																																																																																																												
MED12	9968		GRCh37	X	70341522	70341523	+	frameshift_variant	Frame_Shift_Del	DEL	TA	TA	-			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000374080.3:c.960_961del	p.Ser321CysfsTer18	p.S321Cfs*18	ENST00000374080		319	gtTAta/gtta	0																																																																																																																																																																																																																																												
MED12L	0	broad.mit.edu	GRCh37	3	150906259	150906259	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000474524.1:c.1745C>T	p.Pro582Leu	p.P582L	ENST00000474524	NM_053002.4	582	cCc/cTc	0			1			T	P/L	uc003eyp.2	protein_coding	YES	CCDS33876.1			1745/6438									ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7	c.(1744-1746)CCC>CTC			Pfam_domain:PF12145,hmmpanther:PTHR12796,hmmpanther:PTHR12796:SF5	mediator of RNA polymerase II transcription,				ENSP00000417235		Dec-43									COSM2157492,COSM3408348	Dec-43	.		ENST00000474524	Transcript			regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		ENSG00000144893	g.chr3:150906259C>T	16050			MODERATE		2.915	medium	getma.org/?cm=msa&ty=f&p=MD12L_HUMAN&rb=282&re=730&var=P582L	NA	getma.org/?cm=var&var=hg19,3,150906259,C,T&fts=all	P582L	--	--	1																																		MED12L_uc011bnz.1_Missense_Mutation_p.P442L|MED12L_uc003eyn.2_Missense_Mutation_p.P582L|MED12L_uc003eyo.2_Missense_Mutation_p.P582L	1,1	1		probably_damaging(0.994)	p.P582L	NM_053002	NP_443728		deleterious(0)	1,1	MD12L_HUMAN	MED12L	HGNC	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)				12	1783	+			UPI000020A46B	582					SNV	MED12L,missense_variant,p.Pro582Leu,ENST00000474524,NM_053002.4;MED12L,missense_variant,p.Pro442Leu,ENST00000273432,;MED12L,missense_variant,p.Pro582Leu,ENST00000309237,;MED12L,missense_variant,p.Pro582Leu,ENST00000422248,;MED12L,upstream_gene_variant,,ENST00000480026,;RNA5SP145,downstream_gene_variant,,ENST00000363124,;	uc003eyp.2	c.1745C>T	1783/10744	2	2			c.1745C>T						3	SNP	c.(1744-1746)CCC>CTC	29	29			ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7	Broad	mediator of RNA polymerase II transcription,			150906259		0.343	ENSG00000144893	9256	g.chr3:150906259C>T	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				59			59	357.489502	KEEP	73	60	-1	90	81	73	60	-1	358.511265	90	81	0.432432	1	0	0	0	0	1	0	0	0	--	--		0	T			MED12L_uc011bnz.1_Missense_Mutation_p.P442L|MED12L_uc003eyn.2_Missense_Mutation_p.P582L|MED12L_uc003eyo.2_Missense_Mutation_p.P582L	265	GBM-76-4925-TP	p.P582L	C	ACACAGGCCCCCTCTTTGTGT	NM_053002	NP_443728	150906259	Q86YW9	MD12L_HUMAN	0	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		12	1783	+	T	T			Missense_Mutation	582						
MED13	9969	broad.mit.edu	GRCh37	17	60060308	60060308	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01	TCGA-06-0169-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397786.2:c.3056G>A	p.Arg1019Gln	p.R1019Q	ENST00000397786	NM_005121.2	1019	cGg/cAg	0			1			T	R/Q	uc002izo.2	protein_coding	YES	CCDS42366.1			3056/6525									large_intestine(1)|ovary(1)	2	c.(3055-3057)CGG>CAG			hmmpanther:PTHR12950,hmmpanther:PTHR12950:SF22,Low_complexity_(Seg):seg	mediator complex subunit 13				ENSP00000380888		16/30									COSM982370	16/30	.		ENST00000397786	Transcript			androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	ENSG00000108510	g.chr17:60060308C>T	22474			MODERATE		1.745	low	getma.org/?cm=msa&ty=f&p=MED13_HUMAN&rb=985&re=1184&var=R1019Q	NA	getma.org/?cm=var&var=hg19,17,60060308,C,T&fts=all	R1019Q	--	--	1																																			1	1		probably_damaging(0.996)	p.R1019Q	NM_005121	NP_005112		tolerated(0.21)	1	MED13_HUMAN	MED13	HGNC	Q9UHV7	MED13_HUMAN					16	3133	-			UPI0000D7D6F6	1019					SNV	MED13,missense_variant,p.Arg1019Gln,ENST00000397786,NM_005121.2;	uc002izo.2	c.3056G>A	3133/10465	1	1			c.3056G>A						17	SNP	c.(3055-3057)CGG>CAG	6	6			large_intestine(1)|ovary(1)	2	Broad	mediator complex subunit 13			60060308		0.512	ENSG00000108510	9257	g.chr17:60060308C>T	androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding							-16.759993	KEEP	2	1	-1	45	55	2	1	-1	6.337168	45	55	0.03125	1	0	0	0	0	1	0	0	0	--	--		0	T				34	GBM-06-0169-TP	p.R1019Q	C	ACGAGGAGTCCGAGGAGTCCT	NM_005121	NP_005112	60060308	Q9UHV7	MED13_HUMAN	0			16	3133	-	T	T			Missense_Mutation	1019						
MED13	9969	broad.mit.edu	GRCh37	17	60061549	60061549	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-5856-01	TCGA-06-5856-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397786.2:c.2871G>T	p.Met957Ile	p.M957I	ENST00000397786	NM_005121.2	957	atG/atT	0			1			A	M/I	uc002izo.2	protein_coding	YES	CCDS42366.1			2871/6525									large_intestine(1)|ovary(1)	2	c.(2869-2871)ATG>ATT			hmmpanther:PTHR12950,hmmpanther:PTHR12950:SF22	mediator complex subunit 13				ENSP00000380888		15/30									COSM3403082	15/30	.		ENST00000397786	Transcript			androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	ENSG00000108510	g.chr17:60061549C>A	22474			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=MED13_HUMAN&rb=785&re=984&var=M957I	NA	getma.org/?cm=var&var=hg19,17,60061549,C,A&fts=all	M957I	--	--	1																																			1	1		benign(0.297)	p.M957I	NM_005121	NP_005112		tolerated(0.39)	1	MED13_HUMAN	MED13	HGNC	Q9UHV7	MED13_HUMAN					15	2948	-			UPI0000D7D6F6	957					SNV	MED13,missense_variant,p.Met957Ile,ENST00000397786,NM_005121.2;	uc002izo.2	c.2871G>T	2948/10465	1	1			c.2871G>T						17	SNP	c.(2869-2871)ATG>ATT	49	49			large_intestine(1)|ovary(1)	2	Broad	mediator complex subunit 13			60061549		0.378	ENSG00000108510	9257	g.chr17:60061549C>A	androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding							161.713243	KEEP	23	37	0.616666667	20	45	23	37	0.616666667	161.84011	20	45	0.463636	1	0	0	0	0	1	0	0	0	--	--		0	A				101	GBM-06-5856-TP	p.M957I	C	TGATGAATGGCATTGAAGGCC	NM_005121	NP_005112	60061549	Q9UHV7	MED13_HUMAN	0			15	2948	-	A	A			Missense_Mutation	957						
MED13	0	broad.mit.edu	GRCh37	17	60107352	60107352	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-14-0781-01	TCGA-14-0781-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397786.2:c.1032G>C	p.Lys344Asn	p.K344N	ENST00000397786	NM_005121.2	344	aaG/aaC	0			1			G	K/N	uc002izo.2	protein_coding	YES	CCDS42366.1			1032/6525									large_intestine(1)|ovary(1)	2	c.(1030-1032)AAG>AAC			Pfam_domain:PF11597,hmmpanther:PTHR12950,hmmpanther:PTHR12950:SF22	mediator complex subunit 13				ENSP00000380888		30-Jul									COSM3403083	30-Jul	.		ENST00000397786	Transcript			androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	ENSG00000108510	g.chr17:60107352C>G	22474			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=MED13_HUMAN&rb=1&re=384&var=K344N	NA	getma.org/?cm=var&var=hg19,17,60107352,C,G&fts=all	K344N	--	--	1																																		MED13_uc002izp.2_5'UTR	1	1		probably_damaging(0.984)	p.K344N	NM_005121	NP_005112		tolerated(0.14)	1	MED13_HUMAN	MED13	HGNC	Q9UHV7	MED13_HUMAN					7	1109	-			UPI0000D7D6F6	344					SNV	MED13,missense_variant,p.Lys344Asn,ENST00000397786,NM_005121.2;MED13,missense_variant,p.Lys4Asn,ENST00000583958,;MED13,downstream_gene_variant,,ENST00000580896,;MED13,non_coding_transcript_exon_variant,,ENST00000581994,;MED13,non_coding_transcript_exon_variant,,ENST00000578132,;	uc002izo.2	c.1032G>C	1109/10465	3	3			c.1032G>C						17	SNP	c.(1030-1032)AAG>AAC	64	64			large_intestine(1)|ovary(1)	2	Broad	mediator complex subunit 13			60107352		0.363	ENSG00000108510	9257	g.chr17:60107352C>G	androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding							26.701514	KEEP	4	7	-1	25	27	4	7	-1	32.338841	25	27	0.183333	1	0	0	0	0	1	0	0	0	--	--		0	G			MED13_uc002izp.2_5'UTR	133	GBM-14-0781-TP	p.K344N	C	ATTTGACCCACTTCTGGACAG	NM_005121	NP_005112	60107352	Q9UHV7	MED13_HUMAN	0			7	1109	-	G	G			Missense_Mutation	344						
MED13	9969		GRCh37	17	60072508	60072512	+	splice_donor_variant,intron_variant	Splice_Site	DEL	CTTAC	CTTAC	-			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000397786.2:c.2181+1_2181+5del		p.X727_splice	ENST00000397786	NM_005121.2	727		0																																																																																																																																																																																																																																												
MED13L	0	broad.mit.edu	GRCh37	12	116446291	116446291	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-2631-01	TCGA-19-2631-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281928.3:c.1927G>C	p.Asp643His	p.D643H	ENST00000281928	NM_015335.4	643	Gat/Cat	0			1			G	D/H	uc001tvw.2	protein_coding	YES	CCDS9177.1			1927/6633									skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	c.(1927-1929)GAT>CAT			hmmpanther:PTHR12950,hmmpanther:PTHR12950:SF21	mediator complex subunit 13-like				ENSP00000281928		31-Oct									COSM2156378	31-Oct	.		ENST00000281928	Transcript	1		regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			ENSG00000123066	g.chr12:116446291C>G	22962			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=MD13L_HUMAN&rb=586&re=785&var=D643H	NA	getma.org/?cm=var&var=hg19,12,116446291,C,G&fts=all	D643H	--	--	1																																			1	1		unknown(0)	p.D643H	NM_015335	NP_056150		deleterious(0.01)	1	MD13L_HUMAN	MED13L	HGNC	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	Q9H6Z7_HUMAN		10	1982	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		UPI0000241C1E	643					SNV	MED13L,missense_variant,p.Asp643His,ENST00000281928,NM_015335.4;MED13L,non_coding_transcript_exon_variant,,ENST00000549755,;	uc001tvw.2	c.1927G>C	2134/9530	3	3			c.1927G>C						12	SNP	c.(1927-1929)GAT>CAT	15	15			skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	Broad	mediator complex subunit 13-like			116446291		0.517	ENSG00000123066	9258	g.chr12:116446291C>G	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					497			497	74.492933	KEEP	4	20	-1	25	39	4	20	-1	77.580039	25	39	0.291139	1	0	0	0	0	1	0	0	0	--	--		0	G				167	GBM-19-2631-TP	p.D643H	C	AACTCAGCATCATCACTGGGT	NM_015335	NP_056150	116446291	Q71F56	MD13L_HUMAN	0		BRCA - Breast invasive adenocarcinoma(302;0.0407)	10	1982	-	G	G	all_neural(191;0.117)|Medulloblastoma(191;0.163)		Missense_Mutation	643						
MED14	0	broad.mit.edu	GRCh37	X	40562700	40562700	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-32-4213-01	TCGA-32-4213-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324817.1:c.1407A>G	p.Gly469=	p.G469=	ENST00000324817	NM_004229.3	469	ggA/ggG	0			1			C	G	uc004dex.3	protein_coding	YES	CCDS14254.1			1407/4365									breast(2)|kidney(1)|skin(1)	4	c.(1405-1407)GGA>GGG			hmmpanther:PTHR12809,hmmpanther:PTHR12809:SF2	mediator complex subunit 14				ENSP00000323720		Nov-31									COSM3406369	Nov-31	.		ENST00000324817	Transcript			androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	ENSG00000180182	g.chrX:40562700T>C	2370			LOW								--	--	1																																			1	1			p.G469G	NM_004229	NP_004220			1	MED14_HUMAN	MED14	HGNC	O60244	MED14_HUMAN					11	1547	-			UPI00001414B1	469			Interaction with STAT2.		SNV	MED14,synonymous_variant,p.=,ENST00000324817,NM_004229.3;	uc004dex.3	c.1407A>G	1526/7984	3	3			c.1407A>G						23	SNP	c.(1405-1407)GGA>GGG	9	9			breast(2)|kidney(1)|skin(1)	4	Broad	mediator complex subunit 14			40562700		0.303	ENSG00000180182	9259	g.chrX:40562700T>C	androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding							-3.889255	KEEP	2	0	-1	34	21	2	0	-1	6.38184	34	21	0.043478	1	0	0	0	0	0	0	1	0	--	--		0	C				247	GBM-32-4213-TP	p.G469G	T	ACTTACCAAGTCCATAAAGCA	NM_004229	NP_004220	40562700	O60244	MED14_HUMAN	0			11	1547	-	C	C			Silent	469			Interaction with STAT2.			
MED15	0	broad.mit.edu	GRCh37	22	20939408	20939408	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-0861-01	TCGA-16-0861-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263205.7:c.1985G>A	p.Arg662Gln	p.R662Q	ENST00000263205	NM_001003891.1	662	cGg/cAg	0			1			A	R/Q	uc002zsp.2	protein_coding	YES	CCDS33602.1			1985/2367									skin(1)	1	c.(1984-1986)CGG>CAG			Pfam_domain:PF09606,hmmpanther:PTHR31804	mediator complex subunit 15 isoform a				ENSP00000263205		16/18									COSM3405522,COSM3405523	16/18	.		ENST00000263205	Transcript			regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	ENSG00000099917	g.chr22:20939408G>A	14248			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=MED15_HUMAN&rb=17&re=788&var=R662Q	NA	getma.org/?cm=var&var=hg19,22,20939408,G,A&fts=all	R662Q	--	--	1																																		MED15_uc002zsq.2_Missense_Mutation_p.R622Q|MED15_uc010gso.2_Missense_Mutation_p.R605Q|MED15_uc002zsr.2_Missense_Mutation_p.R596Q|MED15_uc011ahs.1_Missense_Mutation_p.R596Q|MED15_uc002zss.2_Missense_Mutation_p.R541Q|MED15_uc011ahu.1_Missense_Mutation_p.R372Q|MED15_uc002zst.2_Missense_Mutation_p.R278Q|MED15_uc002zsu.2_Missense_Mutation_p.R267Q	1,1	1		benign(0.274)	p.R662Q	NM_001003891	NP_001003891		tolerated(0.05)	1,1	MED15_HUMAN	MED15	HGNC	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		Q69YK5_HUMAN,C9JZV5_HUMAN,C9JM58_HUMAN,C9JGN2_HUMAN,C9J1I1_HUMAN,B4DM43_HUMAN,B3KWF1_HUMAN		16	2065	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	UPI00001313C4	662					SNV	MED15,missense_variant,p.Arg662Gln,ENST00000263205,NM_001003891.1;MED15,missense_variant,p.Arg622Gln,ENST00000292733,NM_015889.3;MED15,missense_variant,p.Arg596Gln,ENST00000406969,;MED15,missense_variant,p.Arg511Gln,ENST00000425759,;MED15,missense_variant,p.Arg596Gln,ENST00000541476,;MED15,missense_variant,p.Arg551Gln,ENST00000382974,;MED15,3_prime_UTR_variant,,ENST00000542773,;MED15,downstream_gene_variant,,ENST00000478831,;MED15,3_prime_UTR_variant,,ENST00000433831,;MED15,non_coding_transcript_exon_variant,,ENST00000493216,;MED15,non_coding_transcript_exon_variant,,ENST00000492381,;MED15,non_coding_transcript_exon_variant,,ENST00000489651,;MED15,non_coding_transcript_exon_variant,,ENST00000473244,;MED15,non_coding_transcript_exon_variant,,ENST00000461076,;MED15,non_coding_transcript_exon_variant,,ENST00000436496,;MED15,downstream_gene_variant,,ENST00000476187,;AC007050.18,downstream_gene_variant,,ENST00000508880,;	uc002zsp.2	c.1985G>A	2054/3351	1	1			c.1985G>A						22	SNP	c.(1984-1986)CGG>CAG	51	51			skin(1)	1	Broad	mediator complex subunit 15 isoform a			20939408		0.682	ENSG00000099917	9260	g.chr22:20939408G>A	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding							-17.864728	KEEP	0	3	-1	60	51	0	3	-1	6.383187	60	51	0.03	1	0	0	0	0	1	0	0	0	--	--		0	A			MED15_uc002zsq.2_Missense_Mutation_p.R622Q|MED15_uc010gso.2_Missense_Mutation_p.R605Q|MED15_uc002zsr.2_Missense_Mutation_p.R596Q|MED15_uc011ahs.1_Missense_Mutation_p.R596Q|MED15_uc002zss.2_Missense_Mutation_p.R541Q|MED15_uc011ahu.1_Missense_Mutation_p.R372Q|MED15_uc002zst.2_Missense_Mutation_p.R278Q|MED15_uc002zsu.2_Missense_Mutation_p.R267Q	156	GBM-16-0861-TP	p.R662Q	G	GTGTGCACCCGGAAGCGCAGG	NM_001003891	NP_001003891	20939408	Q96RN5	MED15_HUMAN	0	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		16	2065	+	A	A	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	Missense_Mutation	662						
MED15	0	broad.mit.edu	GRCh37	22	20920814	20920816	+	inframe_deletion	In_Frame_Del	DEL	CAG	CAG	-			TCGA-19-5951-01	TCGA-19-5951-01	CAG	CAG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263205.7:c.784_786delCAG	p.Gln262del	p.Q262del	ENST00000263205	NM_001003891.1	251	CAG/-	0			1			-	Q/-	uc002zsp.2	protein_coding	YES	CCDS33602.1			751-753/2367									skin(1)	1	c.(751-753)CAGdel			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF09606,hmmpanther:PTHR31804,Low_complexity_(Seg):seg	mediator complex subunit 15 isoform a				ENSP00000263205		18-Jul									rs760241815,COSM2156627,COSM2156628	18-Jul	.		ENST00000263205	Transcript			regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	ENSG00000099917	g.chr22:20920814_20920816delCAG	14248	33		MODERATE								--	--	1																																		MED15_uc002zso.2_In_Frame_Del_p.Q191del|MED15_uc002zsq.2_In_Frame_Del_p.Q262del|MED15_uc010gso.2_In_Frame_Del_p.Q262del|MED15_uc002zsr.2_In_Frame_Del_p.Q236del|MED15_uc011ahs.1_In_Frame_Del_p.Q236del|MED15_uc002zss.2_In_Frame_Del_p.Q181del|MED15_uc011ahu.1_5'UTR	0,1,1	1			p.Q262del	NM_001003891	NP_001003891			0,1,1	MED15_HUMAN	MED15	HGNC	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		Q69YK5_HUMAN,C9JZV5_HUMAN,C9JM58_HUMAN,C9JGN2_HUMAN,C9J1I1_HUMAN,B4DM43_HUMAN,B3KWF1_HUMAN		7	831_833	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	UPI00001313C4	262	Missing (in Ref. 3; BAB85034).	Missing.	Poly-Gln.		deletion	MED15,inframe_deletion,p.Gln262del,ENST00000263205,NM_001003891.1;MED15,inframe_deletion,p.Gln262del,ENST00000292733,NM_015889.3;MED15,inframe_deletion,p.Gln236del,ENST00000406969,;MED15,inframe_deletion,p.Gln151del,ENST00000425759,;MED15,inframe_deletion,p.Gln236del,ENST00000541476,;MED15,inframe_deletion,p.Gln191del,ENST00000382974,;MED15,inframe_deletion,p.Gln67del,ENST00000542773,;MED15,inframe_deletion,p.Gln194del,ENST00000423862,;MED15,downstream_gene_variant,,ENST00000414658,;MED15,downstream_gene_variant,,ENST00000457322,;MED15,downstream_gene_variant,,ENST00000432052,;MED15,downstream_gene_variant,,ENST00000424287,;MED15,downstream_gene_variant,,ENST00000428629,;MED15,non_coding_transcript_exon_variant,,ENST00000478831,;MED15,downstream_gene_variant,,ENST00000487550,;MED15,downstream_gene_variant,,ENST00000477824,;MED15,downstream_gene_variant,,ENST00000473028,;MED15,3_prime_UTR_variant,,ENST00000433831,;MED15,non_coding_transcript_exon_variant,,ENST00000492381,;MED15,downstream_gene_variant,,ENST00000441501,;MED15,downstream_gene_variant,,ENST00000476767,;MED15,downstream_gene_variant,,ENST00000444094,;	uc002zsp.2	c.751_753delCAG	820-822/3351	5	5			c.751_753delCAG						22	DEL	c.(751-753)CAGdel	58	58			skin(1)	1	Broad	mediator complex subunit 15 isoform a			20920816		0.315	ENSG00000099917	9260	g.chr22:20920814_20920816delCAG	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding																				0.15	1	1	0	1	0	0	0	0	0	--	--		0	-			MED15_uc002zso.2_In_Frame_Del_p.Q191del|MED15_uc002zsq.2_In_Frame_Del_p.Q262del|MED15_uc010gso.2_In_Frame_Del_p.Q262del|MED15_uc002zsr.2_In_Frame_Del_p.Q236del|MED15_uc011ahs.1_In_Frame_Del_p.Q236del|MED15_uc002zss.2_In_Frame_Del_p.Q181del|MED15_uc011ahu.1_5'UTR	171	GBM-19-5951-TP	p.Q262del	CAG	acaacagcaacagcagcagcagc	NM_001003891	NP_001003891	20920814	Q96RN5	MED15_HUMAN	0	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		7	831_833	+	-	-	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	In_Frame_Del	262	Missing (in Ref. 3; BAB85034).	Missing.	Poly-Gln.			
MED16	0	broad.mit.edu	GRCh37	19	868170	868170	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325464.1:c.2565G>A	p.Pro855=	p.P855=	ENST00000325464	NM_005481.2	855	ccG/ccA	0			1			T	P	uc002lqd.1	protein_coding	YES	CCDS12047.1			2565/2634										0	c.(2563-2565)CCG>CCA				mediator complex subunit 16				ENSP00000325612		16/16	9.97E-05		0.000122	0.000586		3.82E-05		7.06E-05	rs766876741,COSM3404815	16/16	common_variant		ENST00000325464	Transcript			androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	ENSG00000175221	g.chr19:868170C>T	17556			LOW								--	--	1																																		MED16_uc010drw.1_3'UTR|MED16_uc002lqe.2_3'UTR|MED16_uc002lqf.2_3'UTR	0,1	1			p.P855P	NM_005481	NP_005472			0,1	MED16_HUMAN	MED16	HGNC	Q9Y2X0	MED16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	K7EKX6_HUMAN,B9TX09_HUMAN		16	2716	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	UPI0000141671	855					SNV	MED16,synonymous_variant,p.=,ENST00000325464,NM_005481.2;MED16,synonymous_variant,p.=,ENST00000589119,;MED16,3_prime_UTR_variant,,ENST00000312090,;MED16,3_prime_UTR_variant,,ENST00000395808,;MED16,3_prime_UTR_variant,,ENST00000269814,;MED16,3_prime_UTR_variant,,ENST00000607471,;CFD,downstream_gene_variant,,ENST00000327726,NM_001928.2;CFD,downstream_gene_variant,,ENST00000592860,;MED16,3_prime_UTR_variant,,ENST00000606248,;	uc002lqd.1	c.2565G>A	2716/2922	1	1			c.2565G>A						19	SNP	c.(2563-2565)CCG>CCA	6	6				0	Broad	mediator complex subunit 16			868170		0.677	ENSG00000175221	9261	g.chr19:868170C>T	androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding							-4.092142	KEEP	2	3	-1	27	33	2	3	-1	6.554591	27	33	0.057692	1	0	0	0	0	0	0	1	0	--	--		0	T			MED16_uc010drw.1_3'UTR|MED16_uc002lqe.2_3'UTR|MED16_uc002lqf.2_3'UTR	249	GBM-32-5222-TP	p.P855P	C	GTGTGGACTGCGGGCCCAGCT	NM_005481	NP_005472	868170	Q9Y2X0	MED16_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	16	2716	-	T	T		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	Silent	855						
MED17	0	broad.mit.edu	GRCh37	11	93543034	93543034	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-28-5219-01	TCGA-28-5219-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251871.3:c.1736C>A	p.Ala579Asp	p.A579D	ENST00000251871	NM_004268.4	579	gCt/gAt	0			1			A	A/D	uc001pem.3	protein_coding	YES	CCDS8295.1			1736/1956									ovary(1)	1	c.(1735-1737)GCT>GAT			hmmpanther:PTHR13114	mediator complex subunit 17				ENSP00000251871		12-Nov									COSM3398210	12-Nov	.		ENST00000251871	Transcript	1		androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	ENSG00000042429	g.chr11:93543034C>A	2375			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=MED17_HUMAN&rb=460&re=651&var=A579D	NA	getma.org/?cm=var&var=hg19,11,93543034,C,A&fts=all	A579D	--	--	1																																			1	1		benign(0.302)	p.A579D	NM_004268	NP_004259		deleterious(0.02)	1	MED17_HUMAN	MED17	HGNC	Q9NVC6	MED17_HUMAN			E9PJZ4_HUMAN		11	2011	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	UPI000013CD1D	579					SNV	MED17,missense_variant,p.Ala579Asp,ENST00000251871,NM_004268.4;MED17,non_coding_transcript_exon_variant,,ENST00000533367,;MED17,non_coding_transcript_exon_variant,,ENST00000525613,;MED17,non_coding_transcript_exon_variant,,ENST00000529626,;MED17,intron_variant,,ENST00000533133,;MED17,downstream_gene_variant,,ENST00000531920,;	uc001pem.3	c.1736C>A	2023/4874	2	2			c.1736C>A						11	SNP	c.(1735-1737)GCT>GAT	22	22			ovary(1)	1	Broad	mediator complex subunit 17			93543034		0.408	ENSG00000042429	9262	g.chr11:93543034C>A	androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding							-25.226649	KEEP	7	6	0.461538462	143	123	7	6	0.461538462	25.077888	143	123	0.054167	1	0	0	0	0	1	0	0	0	--	--		0	A				225	GBM-28-5219-TP	p.A579D	C	GGTGACTATGCTATTTCAGGT	NM_004268	NP_004259	93543034	Q9NVC6	MED17_HUMAN	0			11	2011	+	A	A		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	Missense_Mutation	579						
MED23	0	broad.mit.edu	GRCh37	6	131929144	131929144	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-19-2620-01	TCGA-19-2620-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368068.3:c.1145delG	p.Gly382GlufsTer8	p.G382Efs*8	ENST00000368068	NM_004830.3	382	gGa/ga	0			1			-	G/X	uc003qcs.1	protein_coding	YES	CCDS5147.1			1145/4107									ovary(1)|kidney(1)|central_nervous_system(1)	3	c.(1144-1146)GGAfs			Pfam_domain:PF11573,hmmpanther:PTHR12691,hmmpanther:PTHR12691:SF10	mediator complex subunit 23 isoform a				ENSP00000357047		29-Dec										29-Dec	.		ENST00000368068	Transcript	1		regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	ENSG00000112282	g.chr6:131929144delC	2372			HIGH								--	--	1																																		MED23_uc003qcq.2_Frame_Shift_Del_p.G388fs|MED23_uc011eca.1_Intron|MED23_uc003qct.1_Frame_Shift_Del_p.G388fs|MED23_uc011ecb.1_RNA		1			p.G382fs	NM_004830	NP_004821				MED23_HUMAN	MED23	HGNC	Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	B9TX51_HUMAN		12	1319	-	Breast(56;0.0753)		UPI000012855F	382					deletion	MED23,frameshift_variant,p.Gly388GlufsTer8,ENST00000403834,;MED23,frameshift_variant,p.Gly382GlufsTer8,ENST00000368068,NM_004830.3;MED23,frameshift_variant,p.Gly388GlufsTer8,ENST00000354577,NM_015979.3,NM_001270521.1;MED23,frameshift_variant,p.Gly388GlufsTer8,ENST00000368058,;MED23,frameshift_variant,p.Gly382GlufsTer8,ENST00000368060,NM_001270522.1;MED23,frameshift_variant,p.Gly388GlufsTer8,ENST00000540546,;MED23,frameshift_variant,p.Gly388GlufsTer8,ENST00000368053,;MED23,frameshift_variant,p.Gly382GlufsTer8,ENST00000539158,;MED23,intron_variant,,ENST00000545957,;	uc003qcs.1	c.1145delG	1325/5233	5	5			c.1145delG						6	DEL	c.(1144-1146)GGAfs	4	4			ovary(1)|kidney(1)|central_nervous_system(1)	3	Broad	mediator complex subunit 23 isoform a			131929144		0.378	ENSG00000112282	9268	g.chr6:131929144delC	regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity																				0.39	1	1	0	1	0	0	0	0	0	--	--		0	-			MED23_uc003qcq.2_Frame_Shift_Del_p.G388fs|MED23_uc011eca.1_Intron|MED23_uc003qct.1_Frame_Shift_Del_p.G388fs|MED23_uc011ecb.1_RNA	162	GBM-19-2620-TP	p.G382fs	C	CTGAATACTTCCAGAAATGAA	NM_004830	NP_004821	131929144	Q9ULK4	MED23_HUMAN	0		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	12	1319	-	-	-	Breast(56;0.0753)		Frame_Shift_Del	382						
MED7	9443	broad.mit.edu	GRCh37	5	156565766	156565766	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0939-01	TCGA-06-0939-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286317.5:c.677T>C	p.Ile226Thr	p.I226T	ENST00000286317	NM_004270.4	226	aTt/aCt	0			1			G	I/T	uc010jik.2	protein_coding	YES	CCDS4334.1			677/702										0	c.(676-678)ATT>ACT				mediator complex subunit 7				ENSP00000286317		2-Feb									COSM3410052	2-Feb	.		ENST00000286317	Transcript			regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity	ENSG00000155868	g.chr5:156565766A>G	2378			MODERATE		1.24	low	getma.org/?cm=msa&ty=f&p=MED7_HUMAN&rb=166&re=233&var=I226T	NA	getma.org/?cm=var&var=hg19,5,156565766,A,G&fts=all	I226T	--	--	1																																		MED7_uc003lwm.3_Missense_Mutation_p.I226T	1	1		benign(0.023)	p.I226T	NM_001100816	NP_001094286		tolerated(0.16)	1	MED7_HUMAN	MED7	HGNC	O43513	MED7_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Q6IAZ5_HUMAN,E5RIE8_HUMAN		2	1069	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	UPI0000128565	226					SNV	MED7,missense_variant,p.Ile226Thr,ENST00000286317,NM_004270.4;MED7,missense_variant,p.Ile226Thr,ENST00000420343,NM_001100816.1;HAVCR2,intron_variant,,ENST00000524219,;MED7,downstream_gene_variant,,ENST00000524289,;ITK,upstream_gene_variant,,ENST00000521769,;	uc010jik.2	c.677T>C	1059/2402	3	3			c.677T>C						5	SNP	c.(676-678)ATT>ACT	2	2				0	Broad	mediator complex subunit 7			156565766		0.323	ENSG00000155868	9279	g.chr5:156565766A>G	regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity							-94.320983	KEEP	5	3	-1	234	264	5	3	-1	12.83648	234	264	0.014963	1	0	0	0	0	1	0	0	0	--	--		0	G			MED7_uc003lwm.3_Missense_Mutation_p.I226T	78	GBM-06-0939-TP	p.I226T	A	CATCTCATCAATTAGGACACA	NM_001100816	NP_001094286	156565766	O43513	MED7_HUMAN	0	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1069	-	G	G	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Missense_Mutation	226						
MED7	0	broad.mit.edu	GRCh37	5	156566183	156566183	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-2625-01	TCGA-19-2625-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286317.5:c.260T>C	p.Ile87Thr	p.I87T	ENST00000286317	NM_004270.4	87	aTt/aCt	0			1			G	I/T	uc010jik.2	protein_coding	YES	CCDS4334.1			260/702										0	c.(259-261)ATT>ACT			Low_complexity_(Seg):seg,hmmpanther:PTHR15498:SF45,hmmpanther:PTHR15498,Pfam_domain:PF05983,Superfamily_domains:SSF140718	mediator complex subunit 7				ENSP00000286317		2-Feb									COSM3410053	2-Feb	.		ENST00000286317	Transcript			regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity	ENSG00000155868	g.chr5:156566183A>G	2378			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=MED7_HUMAN&rb=6&re=165&var=I87T	NA	getma.org/?cm=var&var=hg19,5,156566183,A,G&fts=all	I87T	--	--	1																																		MED7_uc003lwm.3_Missense_Mutation_p.I87T	1	1		benign(0.009)	p.I87T	NM_001100816	NP_001094286		deleterious(0.01)	1	MED7_HUMAN	MED7	HGNC	O43513	MED7_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Q6IAZ5_HUMAN,E5RIE8_HUMAN		2	652	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	UPI0000128565	87					SNV	MED7,missense_variant,p.Ile87Thr,ENST00000286317,NM_004270.4;MED7,missense_variant,p.Ile87Thr,ENST00000420343,NM_001100816.1;MED7,missense_variant,p.Ile87Thr,ENST00000524289,;HAVCR2,intron_variant,,ENST00000524219,;ITK,upstream_gene_variant,,ENST00000521769,;	uc010jik.2	c.260T>C	642/2402	3	3			c.260T>C						5	SNP	c.(259-261)ATT>ACT	64	64				0	Broad	mediator complex subunit 7			156566183		0.378	ENSG00000155868	9279	g.chr5:156566183A>G	regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity							130.555224	KEEP	19	21	-1	45	50	19	21	-1	134.698531	45	50	0.310078	1	0	0	0	0	1	0	0	0	--	--		0	G			MED7_uc003lwm.3_Missense_Mutation_p.I87T	165	GBM-19-2625-TP	p.I87T	A	CAAGAAATTAATAAGGATAGA	NM_001100816	NP_001094286	156566183	O43513	MED7_HUMAN	0	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	652	-	G	G	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Missense_Mutation	87						
MED7	9443		GRCh37	5	156566376	156566376	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000286317.5:c.67G>T	p.Asp23Tyr	p.D23Y	ENST00000286317	NM_004270.4	23	Gat/Tat	0																																																																																																																																																																																																																																												
MEF2A	0	broad.mit.edu	GRCh37	15	100230497	100230497	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1833-01	TCGA-27-1833-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354410.5:c.728G>A	p.Gly243Asp	p.G243D	ENST00000354410	NM_005587.2	243	gGt/gAt	0			1			A	G/D	uc010urw.1	protein_coding	YES	CCDS45362.1			728/1500									ovary(1)	1	c.(727-729)GGT>GAT			hmmpanther:PTHR11945:SF145,hmmpanther:PTHR11945	myocyte enhancer factor 2A isoform 1				ENSP00000346389		11-Aug									COSM3401581,COSM3401579,COSM3401580	11-Aug	.		ENST00000354410	Transcript	1		apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding	ENSG00000068305	g.chr15:100230497G>A	6993			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=MEF2A_HUMAN&rb=156&re=355&var=G243D	NA	getma.org/?cm=var&var=hg19,15,100230497,G,A&fts=all	G243D	--	--	1																																		MEF2A_uc010urv.1_Missense_Mutation_p.G173D|MEF2A_uc010bos.2_Missense_Mutation_p.G241D|MEF2A_uc002bvf.2_Missense_Mutation_p.G243D|MEF2A_uc002bve.2_Missense_Mutation_p.G241D|MEF2A_uc002bvg.2_Missense_Mutation_p.G241D|MEF2A_uc002bvi.2_Missense_Mutation_p.G241D|MEF2A_uc010bot.2_Missense_Mutation_p.G173D	1,1,1	1		possibly_damaging(0.483)	p.G243D	NM_005587	NP_005578		deleterious(0.03)	1,1,1	MEF2A_HUMAN	MEF2A	HGNC	Q02078	MEF2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00085)		H0YNI2_HUMAN,H0YM62_HUMAN,H0YKY6_HUMAN,D6RJ95_HUMAN		7	1087	+	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		UPI0000073025	243					SNV	MEF2A,missense_variant,p.Gly243Asp,ENST00000354410,NM_005587.2;MEF2A,missense_variant,p.Gly241Asp,ENST00000338042,;MEF2A,missense_variant,p.Gly241Asp,ENST00000557942,;MEF2A,missense_variant,p.Gly241Asp,ENST00000453228,;MEF2A,missense_variant,p.Gly173Asp,ENST00000449277,NM_001130928.1,NM_001130926.1;MEF2A,missense_variant,p.Gly241Asp,ENST00000557785,NM_001171894.1;MEF2A,missense_variant,p.Gly173Asp,ENST00000558812,NM_001130927.1;	uc010urw.1	c.728G>A	1357/5824	1	1			c.728G>A						15	SNP	c.(727-729)GGT>GAT	63	63			ovary(1)	1	Broad	myocyte enhancer factor 2A isoform 1			100230497		0.413	ENSG00000068305	9282	g.chr15:100230497G>A	apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			195			195	52.667891	KEEP	8	12	-1	13	13	8	12	-1	52.928762	13	13	0.414634	1	0	0	0	0	1	0	0	0	--	--		0	A			MEF2A_uc010urv.1_Missense_Mutation_p.G173D|MEF2A_uc010bos.2_Missense_Mutation_p.G241D|MEF2A_uc002bvf.2_Missense_Mutation_p.G243D|MEF2A_uc002bve.2_Missense_Mutation_p.G241D|MEF2A_uc002bvg.2_Missense_Mutation_p.G241D|MEF2A_uc002bvi.2_Missense_Mutation_p.G241D|MEF2A_uc010bot.2_Missense_Mutation_p.G173D	192	GBM-27-1833-TP	p.G243D	G	GGAGCTACTGGTGCAAATAGC	NM_005587	NP_005578	100230497	Q02078	MEF2A_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(32;0.00085)		7	1087	+	A	A	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		Missense_Mutation	243						
MEF2A	4205		GRCh37	15	100230604	100230604	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000354410.5:c.835C>G	p.Pro279Ala	p.P279A	ENST00000354410	NM_005587.2	279	Cct/Gct	0																																																																																																																																																																																																																																												
MEF2D	0	broad.mit.edu	GRCh37	1	156446904	156446904	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2523-01	TCGA-27-2523-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000348159.4:c.755C>T	p.Pro252Leu	p.P252L	ENST00000348159	NM_005920.3	252	cCa/cTa	0			1			A	P/L	uc001fpc.2	protein_coding	YES	CCDS1143.1			755/1566									ovary(1)	1	c.(754-756)CCG>CTG			hmmpanther:PTHR11945,hmmpanther:PTHR11945:SF23	myocyte enhancer factor 2D				ENSP00000271555		12-Jul	8.24E-06							6.07E-05	rs760467482,COSM1166316,COSM3399808	12-Jul	.		ENST00000348159	Transcript			apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	ENSG00000116604	g.chr1:156446904G>A	6997			MODERATE		1.645	low	getma.org/?cm=msa&ty=f&p=MEF2D_HUMAN&rb=156&re=355&var=P252L	NA	getma.org/?cm=var&var=hg19,1,156446904,G,A&fts=all	P252L	--	--	1																																		MEF2D_uc001fpb.2_Missense_Mutation_p.P252L|MEF2D_uc001fpd.2_Missense_Mutation_p.P252L|MEF2D_uc001fpe.1_Missense_Mutation_p.P252L|MEF2D_uc009wsa.2_RNA	0,1,1	1		benign(0.039)	p.P252L	NM_005920	NP_005911		deleterious(0.01)	0,1,1	MEF2D_HUMAN	MEF2D	HGNC	Q14814	MEF2D_HUMAN					7	1145	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		UPI000012EEB6	252			Poly-Pro.		SNV	MEF2D,missense_variant,p.Pro252Leu,ENST00000348159,NM_005920.3;MEF2D,missense_variant,p.Pro251Leu,ENST00000340875,;MEF2D,missense_variant,p.Pro252Leu,ENST00000368240,;MEF2D,missense_variant,p.Pro206Leu,ENST00000353795,;MEF2D,missense_variant,p.Pro251Leu,ENST00000464356,;MEF2D,missense_variant,p.Pro252Leu,ENST00000360595,NM_001271629.1;MEF2D,3_prime_UTR_variant,,ENST00000475587,;MEF2D,non_coding_transcript_exon_variant,,ENST00000493077,;	uc001fpc.2	c.755C>T	1236/5965	2	2			c.755C>T						1	SNP	c.(754-756)CCG>CTG	21	21			ovary(1)	1	Broad	myocyte enhancer factor 2D			156446904		0.607	ENSG00000116604	9285	g.chr1:156446904G>A	apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity							-15.514326	KEEP	1	2	-1	53	49	1	2	-1	6.394813	53	49	0.032609	1	0	0	0	0	1	0	0	0	--	--		0	A			MEF2D_uc001fpb.2_Missense_Mutation_p.P252L|MEF2D_uc001fpd.2_Missense_Mutation_p.P252L|MEF2D_uc001fpe.1_Missense_Mutation_p.P252L|MEF2D_uc009wsa.2_RNA	201	GBM-27-2523-TP	p.P252L	G	AGGTGGGGGTGGAGACTTGGC	NM_005920	NP_005911	156446904	Q14814	MEF2D_HUMAN	0			7	1145	-	A	A	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		Missense_Mutation	252			Poly-Pro.			
MEFV	4210	broad.mit.edu	GRCh37	16	3299649	3299649	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6390-01	TCGA-06-6390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000219596.1:c.1042C>T	p.Arg348Cys	p.R348C	ENST00000219596	NM_000243.2	348	Cgc/Tgc	0			1			A	R/C	uc002cun.1	protein_coding	YES	CCDS10498.1			1042/2346								p.R348H(1)	central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6	c.(1042-1044)CGC>TGC			hmmpanther:PTHR24103:SF264,hmmpanther:PTHR24103	Mediterranean fever protein	Colchicine(DB01394)			ENSP00000219596		10-Mar	8.24E-06			0.000117					rs750095575,COSM2153454,COSM2153455	10-Mar	.		ENST00000219596	Transcript	1		inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	ENSG00000103313	g.chr16:3299649G>A	6998			MODERATE		-0.805	neutral	getma.org/?cm=msa&ty=f&p=MEFV_HUMAN&rb=245&re=369&var=R348C	NA	getma.org/?cm=var&var=hg19,16,3299649,G,A&fts=all	R348C	--	--	1																																			0,1,1	1		benign(0)	p.R348C	NM_000243	NP_000234		tolerated(0.23)	0,1,1	MEFV_HUMAN	MEFV	HGNC	O15553	MEFV_HUMAN					3	1082	-			UPI000004C0CA	348					SNV	MEFV,missense_variant,p.Arg348Cys,ENST00000219596,NM_000243.2;MEFV,missense_variant,p.Arg168Cys,ENST00000339854,;MEFV,missense_variant,p.Arg137Cys,ENST00000541159,NM_001198536.1;MEFV,missense_variant,p.Arg137Cys,ENST00000536379,;MEFV,missense_variant,p.Arg379Cys,ENST00000542898,;MEFV,missense_variant,p.Arg348Cys,ENST00000537682,;MEFV,missense_variant,p.Arg348Cys,ENST00000538326,;MEFV,missense_variant,p.Arg137Cys,ENST00000536980,;MEFV,intron_variant,,ENST00000570511,;MEFV,intron_variant,,ENST00000539145,;MEFV,intron_variant,,ENST00000576315,;MEFV,intron_variant,,ENST00000574583,;MEFV,intron_variant,,ENST00000572244,;MEFV,upstream_gene_variant,,ENST00000539154,;	uc002cun.1	c.1042C>T	1082/3499	1	1			c.1042C>T						16	SNP	c.(1042-1044)CGC>TGC	63	63		p.R348H(1)	central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6	Broad	Mediterranean fever protein		Colchicine(DB01394)	3299649		0.657	ENSG00000103313	9286	g.chr16:3299649G>A	inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding							30.010859	KEEP	4	7	-1	16	14	4	7	-1	31.369987	16	14	0.297297	1	0	0	0	0	1	0	0	0	--	--		0	A				106	GBM-06-6390-TP	p.R348C	G	CCAGGTGAGCGGCTGCCTGAG	NM_000243	NP_000234	3299649	O15553	MEFV_HUMAN	0			3	1082	-	A	A			Missense_Mutation	348						
MEGF11	0	broad.mit.edu	GRCh37	15	66191203	66191203	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-32-1970-01	TCGA-32-1970-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409699.2:c.2837C>A	p.Thr946Lys	p.T946K	ENST00000409699		946	aCa/aAa	0			1			T	T/K	uc002apm.2	protein_coding	YES	CCDS10213.2			2837/3135									pancreas(1)	1	c.(2836-2838)ACA>AAA			hmmpanther:PTHR24035:SF10,hmmpanther:PTHR24035	multiple EGF-like-domains 11 precursor				ENSP00000386908		22/23									COSM3401877,COSM3401876	22/23	.		ENST00000409699	Transcript				basolateral plasma membrane|integral to membrane		ENSG00000157890	g.chr15:66191203G>T	29635			MODERATE		2.25	medium	getma.org/?cm=msa&ty=f&p=MEG11_HUMAN&rb=833&re=1032&var=T946K	NA	getma.org/?cm=var&var=hg19,15,66191203,G,T&fts=all	T946K	--	--	1																																		MEGF11_uc002apl.2_Missense_Mutation_p.T871K|MEGF11_uc002apn.1_Missense_Mutation_p.T946K	1,1	1		benign(0.215)	p.T946K	NM_032445	NP_115821		tolerated(0.14)	1,1	MEG11_HUMAN	MEGF11	HGNC	A6BM72	MEG11_HUMAN			C9JYE7_HUMAN		22	2978	-			UPI00001FE6DA	946					SNV	MEGF11,missense_variant,p.Thr946Lys,ENST00000409699,;MEGF11,missense_variant,p.Thr946Lys,ENST00000422354,NM_032445.2;MEGF11,missense_variant,p.Thr871Lys,ENST00000395625,;MEGF11,missense_variant,p.Thr871Lys,ENST00000288745,;MEGF11,3_prime_UTR_variant,,ENST00000360698,;MEGF11,non_coding_transcript_exon_variant,,ENST00000478721,;MEGF11,downstream_gene_variant,,ENST00000489275,;MEGF11,downstream_gene_variant,,ENST00000490495,;	uc002apm.2	c.2837C>A	3010/6163	1	1			c.2837C>A						15	SNP	c.(2836-2838)ACA>AAA	1	1			pancreas(1)	1	Broad	multiple EGF-like-domains 11 precursor			66191203		0.468	ENSG00000157890	9288	g.chr15:66191203G>T		basolateral plasma membrane|integral to membrane								194.290585	KEEP	33	31	0.515625	34	39	33	31	0.515625	194.399397	34	39	0.46875	1	0	0	0	0	1	0	0	0	--	--		0	T			MEGF11_uc002apl.2_Missense_Mutation_p.T871K|MEGF11_uc002apn.1_Missense_Mutation_p.T946K	228	GBM-32-1970-TP	p.T946K	G	GTCCTTAATTGTGGCGTAAGG	NM_032445	NP_115821	66191203	A6BM72	MEG11_HUMAN	0			22	2978	-	T	T			Missense_Mutation	946						
MEGF6	0	broad.mit.edu	GRCh37	1	3412515	3412515	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-3393-01	TCGA-41-3393-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356575.4:c.3810C>T	p.Cys1270=	p.C1270=	ENST00000356575	NM_001409.3	1270	tgC/tgT	0		A:0.0008	1	A:0		A	C	uc001akl.2	protein_coding	YES	CCDS41237.1			3810/4626									large_intestine(1)	1	c.(3808-3810)TGC>TGT			Gene3D:2gy5A03,PROSITE_profiles:PS50026,hmmpanther:PTHR24035,hmmpanther:PTHR24035:SF29,SMART_domains:SM00180,SMART_domains:SM00181	EGF-like-domain, multiple 3 precursor		A:0		ENSP00000348982	A:0	30/37	4.23E-05	0.000441				8.95E-05			rs544058443,COSM3400703	30/37	common_variant		ENST00000356575	Transcript		A:0.0002		extracellular region	calcium ion binding	ENSG00000162591	g.chr1:3412515G>A	3232			LOW								--	--	1																																		MEGF6_uc001akk.2_Silent_p.C1035C	0,1	1			p.C1270C	NM_001409	NP_001400	A:0		0,1	MEGF6_HUMAN	MEGF6	HGNC	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)			30	4037	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	UPI0000DACACB	1270			EGF-like 23.		SNV	MEGF6,synonymous_variant,p.=,ENST00000356575,NM_001409.3;MEGF6,synonymous_variant,p.=,ENST00000294599,;MEGF6,synonymous_variant,p.=,ENST00000491842,;MEGF6,missense_variant,p.Ala1321Val,ENST00000485002,;MEGF6,non_coding_transcript_exon_variant,,ENST00000475790,;MEGF6,upstream_gene_variant,,ENST00000494257,;MEGF6,upstream_gene_variant,,ENST00000461795,;	uc001akl.2	c.3810C>T	4037/5455	2	2			c.3810C>T						1	SNP	c.(3808-3810)TGC>TGT	35	35			large_intestine(1)	1	Broad	EGF-like-domain, multiple 3 precursor			3412515		0.706	ENSG00000162591	9289	g.chr1:3412515G>A		extracellular region	calcium ion binding	Ovarian(73;978 3658)			Ovarian(73;978 3658)			17.148077	KEEP	4	3	-1	1	6	4	3	-1	17.164877	1	6	0.461538	1	0	0	0	0	0	0	1	0	--	--		0	A			MEGF6_uc001akk.2_Silent_p.C1035C	255	GBM-41-3393-TP	p.C1270C	G	TCACAGGGTCGCAGGCCGCCC	NM_001409	NP_001400	3412515	O75095	MEGF6_HUMAN	0		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	30	4037	-	A	A	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	Silent	1270			EGF-like 23.			
MEGF8	1954	broad.mit.edu	GRCh37	19	42873137	42873137	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334370.4:c.6423C>T	p.Thr2141=	p.T2141=	ENST00000334370	NM_001410.2	2141	acC/acT	0	T:0	T:0.0008	1	T:0		T	T	uc002otl.3	protein_coding		CCDS62693.1			6624/8538									ovary(1)	1	c.(6421-6423)ACC>ACT			Gene3D:2.10.25.10,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF241,SMART_domains:SM00179,SMART_domains:SM00181	multiple EGF-like-domains 8		T:0	T:0.0002	ENSP00000251268	T:0	37/42	5.77E-05	0.000193		0.000232		4.53E-05			rs368865740,COSM3404296,COSM3404297,COSM3404295	37/42	.		ENST00000251268	Transcript	1	T:0.0002		integral to membrane	calcium ion binding|structural molecule activity	ENSG00000105429	g.chr19:42873137C>T	3233			LOW								--	--	1																																		MEGF8_uc002otm.3_Silent_p.T1749T|MEGF8_uc002otn.3_5'Flank	0,1,1,1				p.T2141T	NM_001410	NP_001401	T:0		0,1,1,1	MEGF8_HUMAN	MEGF8	HGNC	Q7Z7M0	MEGF8_HUMAN					36	7058	+		Prostate(69;0.00682)	UPI00005788D1	2208			Extracellular (Potential).|EGF-like 5.		SNV	MEGF8,synonymous_variant,p.=,ENST00000334370,NM_001410.2,NM_001271938.1;MEGF8,synonymous_variant,p.=,ENST00000251268,;MEGF8,intron_variant,,ENST00000598762,;MEGF8,upstream_gene_variant,,ENST00000593647,;MEGF8,upstream_gene_variant,,ENST00000378073,;MEGF8,upstream_gene_variant,,ENST00000599787,;	uc002otl.3	c.6423C>T	6624/9549	2	2			c.6423C>T						19	SNP	c.(6421-6423)ACC>ACT	41	41			ovary(1)	1	Broad	multiple EGF-like-domains 8			42873137		0.637	ENSG00000105429	9290	g.chr19:42873137C>T		integral to membrane	calcium ion binding|structural molecule activity							62.018528	KEEP	11	14	-1	33	31	11	14	-1	65.346434	33	31	0.282051	1	0	0	0	0	0	0	1	0	--	--		0	T			MEGF8_uc002otm.3_Silent_p.T1749T|MEGF8_uc002otn.3_5'Flank	65	GBM-06-0743-TP	p.T2141T	C	GCTGCAAGACCGGCTATACCA	NM_001410	NP_001401	42873137	Q7Z7M0	MEGF8_HUMAN	0			36	7058	+	T	T		Prostate(69;0.00682)	Silent	2208			Extracellular (Potential).|EGF-like 5.			
MEGF8	1954	broad.mit.edu	GRCh37	19	42861568	42861568	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0882-01	TCGA-06-0882-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334370.4:c.4642G>A	p.Val1548Met	p.V1548M	ENST00000334370	NM_001410.2	1548	Gtg/Atg	0			1			A	V/M	uc002otl.3	protein_coding		CCDS62693.1			4843/8538									ovary(1)	1	c.(4642-4644)GTG>ATG			Superfamily_domains:0052715,Gene3D:1zgkA00,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF241	multiple EGF-like-domains 8				ENSP00000251268		28/42									COSM3404293,COSM3404294,COSM3404292	28/42	.		ENST00000251268	Transcript	1			integral to membrane	calcium ion binding|structural molecule activity	ENSG00000105429	g.chr19:42861568G>A	3233			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=MEGF8_HUMAN&rb=1565&re=1764&var=V1615M	NA	getma.org/?cm=var&var=hg19,19,42861568,G,A&fts=all	V1615M	--	--	1																																		MEGF8_uc002otm.3_Missense_Mutation_p.V1156M	1,1,1			benign(0.004)	p.V1548M	NM_001410	NP_001401		tolerated(0.06)	1,1,1	MEGF8_HUMAN	MEGF8	HGNC	Q7Z7M0	MEGF8_HUMAN					27	5277	+		Prostate(69;0.00682)	UPI00005788D1	1615			Extracellular (Potential).|Kelch 8.		SNV	MEGF8,missense_variant,p.Val1548Met,ENST00000334370,NM_001410.2,NM_001271938.1;MEGF8,missense_variant,p.Val1615Met,ENST00000251268,;MEGF8,upstream_gene_variant,,ENST00000598762,;MEGF8,downstream_gene_variant,,ENST00000593840,;	uc002otl.3	c.4642G>A	4843/9549	2	2			c.4642G>A						19	SNP	c.(4642-4644)GTG>ATG	29	29			ovary(1)	1	Broad	multiple EGF-like-domains 8			42861568		0.652	ENSG00000105429	9290	g.chr19:42861568G>A		integral to membrane	calcium ion binding|structural molecule activity							35.051141	KEEP	15	7	-1	57	57	15	7	-1	47.453467	57	57	0.168067	1	0	0	0	0	1	0	0	0	--	--		0	A			MEGF8_uc002otm.3_Missense_Mutation_p.V1156M	77	GBM-06-0882-TP	p.V1548M	G	CCCCCAGACCGTGGAGCTGCC	NM_001410	NP_001401	42861568	Q7Z7M0	MEGF8_HUMAN	0			27	5277	+	A	A		Prostate(69;0.00682)	Missense_Mutation	1615			Extracellular (Potential).|Kelch 8.			
MEGF8	0	broad.mit.edu	GRCh37	19	42855690	42855690	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-5299-01	TCGA-12-5299-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251268.6:c.2965G>A	p.Gly989Ser	p.G989S	ENST00000251268		989	Ggc/Agc	0		A:0	1	A:0.0014		A	G/S	uc002otl.3	protein_coding		CCDS62693.1			2965/8538									ovary(1)	1	c.(2764-2766)GGC>AGC			SMART_domains:SM00423	multiple EGF-like-domains 8		A:0		ENSP00000251268	A:0	17/42									rs539307956,COSM3404290,COSM3404291,COSM3404289	17/42	.		ENST00000251268	Transcript	1	A:0.0002		integral to membrane	calcium ion binding|structural molecule activity	ENSG00000105429	g.chr19:42855690G>A	3233			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=MEGF8_HUMAN&rb=933&re=1004&var=G989S	NA	getma.org/?cm=var&var=hg19,19,42855690,G,A&fts=all	G989S	--	--	1																																		MEGF8_uc002otm.3_Missense_Mutation_p.G530S	0,1,1,1			benign(0.243)	p.G922S	NM_001410	NP_001401	A:0	tolerated(0.42)	0,1,1,1	MEGF8_HUMAN	MEGF8	HGNC	Q7Z7M0	MEGF8_HUMAN					16	3399	+		Prostate(69;0.00682)	UPI00005788D1	989			Extracellular (Potential).		SNV	MEGF8,missense_variant,p.Gly922Ser,ENST00000334370,NM_001410.2,NM_001271938.1;MEGF8,missense_variant,p.Gly989Ser,ENST00000251268,;MEGF8,upstream_gene_variant,,ENST00000593840,;	uc002otl.3	c.2764G>A	2965/9549	1	1			c.2764G>A						19	SNP	c.(2764-2766)GGC>AGC	61	61			ovary(1)	1	Broad	multiple EGF-like-domains 8			42855690		0.662	ENSG00000105429	9290	g.chr19:42855690G>A		integral to membrane	calcium ion binding|structural molecule activity							33.857331	KEEP	3	8	-1	7	4	3	8	-1	33.857331	7	4	0.5	1	0	0	0	0	1	0	0	0	--	--		0	A			MEGF8_uc002otm.3_Missense_Mutation_p.G530S	130	GBM-12-5299-TP	p.G922S	G	CCCACACGGGGGCTGTCGAGG	NM_001410	NP_001401	42855690	Q7Z7M0	MEGF8_HUMAN	0			16	3399	+	A	A		Prostate(69;0.00682)	Missense_Mutation	989			Extracellular (Potential).			
MEGF8	1954		GRCh37	19	42841352	42841352	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000334370.4:c.1507C>T	p.Pro503Ser	p.P503S	ENST00000334370	NM_001410.2	503	Cct/Tct	0																																																																																																																																																																																																																																												
MEI1	0	broad.mit.edu	GRCh37	22	42191460	42191460	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-28-2502-01	TCGA-28-2502-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000401548.3:c.3580G>C	p.Gly1194Arg	p.G1194R	ENST00000401548	NM_152513.3	1194	Ggt/Cgt	0			1			C	G/R	uc003baz.1	protein_coding	YES	CCDS46718.1			3580/3825									central_nervous_system(1)|skin(1)	2	c.(3580-3582)GGT>CGT			hmmpanther:PTHR12044,hmmpanther:PTHR12044:SF10	meiosis defective 1				ENSP00000384115		29/31									COSM3405695	29/31	.		ENST00000401548	Transcript					binding	ENSG00000167077	g.chr22:42191460G>C	28613			MODERATE		1.155	low	getma.org/?cm=msa&ty=f&p=MEI1_HUMAN&rb=20&re=1271&var=G1194R	NA	getma.org/?cm=var&var=hg19,22,42191460,G,C&fts=all	G1194R	--	--	1																																		WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Missense_Mutation_p.G580R|MEI1_uc003bbc.1_Missense_Mutation_p.G562R|MEI1_uc010gym.1_Missense_Mutation_p.G527R|MEI1_uc003bbd.1_Intron|MEI1_uc010gyn.1_RNA|MEI1_uc003bbe.1_RNA|MEI1_uc003bbf.2_Missense_Mutation_p.G208R|MEI1_uc003bbg.2_Intron	1	1		benign(0.009)	p.G1194R	NM_152513	NP_689726		tolerated(0.32)	1	MEI1_HUMAN	MEI1	HGNC	Q5TIA1	MEI1_HUMAN					29	3605	+			UPI00006E232C	1194					SNV	MEI1,missense_variant,p.Gly1194Arg,ENST00000401548,NM_152513.3;MEI1,missense_variant,p.Gly527Arg,ENST00000400107,;MEI1,splice_region_variant,,ENST00000423900,;MEI1,intron_variant,,ENST00000300398,;MEI1,intron_variant,,ENST00000403492,;MEI1,non_coding_transcript_exon_variant,,ENST00000476893,;MEI1,non_coding_transcript_exon_variant,,ENST00000487535,;MEI1,non_coding_transcript_exon_variant,,ENST00000484966,;	uc003baz.1	c.3580G>C	3620/4020	4	4			c.3580G>C						22	SNP	c.(3580-3582)GGT>CGT	43	43			central_nervous_system(1)|skin(1)	2	Broad	meiosis defective 1			42191460		0.557	ENSG00000167077	9292	g.chr22:42191460G>C			binding							46.916171	KEEP	11	11	-1	47	51	11	11	-1	55.502675	47	51	0.201923	1	0	0	0	0	1	0	0	0	--	--		0	C			WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Missense_Mutation_p.G580R|MEI1_uc003bbc.1_Missense_Mutation_p.G562R|MEI1_uc010gym.1_Missense_Mutation_p.G527R|MEI1_uc003bbd.1_Intron|MEI1_uc010gyn.1_RNA|MEI1_uc003bbe.1_RNA|MEI1_uc003bbf.2_Missense_Mutation_p.G208R|MEI1_uc003bbg.2_Intron	210	GBM-28-2502-TP	p.G1194R	G	TGAAGAGGTGGGTGATGTTCT	NM_152513	NP_689726	42191460	Q5TIA1	MEI1_HUMAN	0			29	3605	+	C	C			Missense_Mutation	1194						
MEIS3	56917	broad.mit.edu	GRCh37	19	47910342	47910342	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0157-01	TCGA-06-0157-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000561293.1:c.1126C>T	p.Arg376Cys	p.R376C	ENST00000561293		376	Cgc/Tgc	0			1			A	R/C	uc002pgu.2	protein_coding					988/1128										0	c.(988-990)CGC>TGC			hmmpanther:PTHR11850:SF71,hmmpanther:PTHR11850,Superfamily_domains:SSF46689	Meis1, myeloid ecotropic viral integration site				ENSP00000454073		13-Oct									COSM3404419	13-Oct	.		ENST00000558555	Transcript				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000105419	g.chr19:47910342G>A	29537			MODERATE		2.05	medium	getma.org/?cm=msa&ty=f&p=ME3L1_HUMAN&rb=219&re=274&var=R229C	NA	getma.org/?cm=var&var=hg19,19,47910342,G,A&fts=all	R229C	--	--	1																																		MEIS3_uc010xyp.1_RNA|MEIS3_uc002pgo.2_Missense_Mutation_p.R129C|MEIS3_uc002pgp.2_Missense_Mutation_p.R162C|MEIS3_uc002pgq.2_Missense_Mutation_p.R411C|MEIS3_uc002pgr.2_Missense_Mutation_p.R198C|MEIS3_uc002pgt.2_Missense_Mutation_p.R313C|MEIS3_uc002pgv.2_Missense_Mutation_p.R359C|MEIS3_uc002pgs.2_Missense_Mutation_p.R376C|MEIS3_uc010eld.2_Missense_Mutation_p.R376C	1			possibly_damaging(0.591)	p.R330C	NM_001009813	NP_001009813		deleterious(0)	1	MEIS3_HUMAN	MEIS3	HGNC	Q99687	MEIS3_HUMAN		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)			10	1435	-		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	UPI00004C800D	330					SNV	MEIS3,missense_variant,p.Arg359Cys,ENST00000331559,NM_020160.2;MEIS3,missense_variant,p.Arg376Cys,ENST00000561293,;MEIS3,missense_variant,p.Arg418Cys,ENST00000561096,;MEIS3,missense_variant,p.Arg376Cys,ENST00000559524,;MEIS3,missense_variant,p.Arg313Cys,ENST00000441740,NM_001009813.2;MEIS3,missense_variant,p.Arg330Cys,ENST00000558555,;MEIS3,missense_variant,p.Arg205Cys,ENST00000560245,;MEIS3,downstream_gene_variant,,ENST00000559338,;MEIS3,downstream_gene_variant,,ENST00000607695,;MEIS3,non_coding_transcript_exon_variant,,ENST00000560253,;MEIS3,non_coding_transcript_exon_variant,,ENST00000561204,;	uc002pgu.2	c.988C>T	1176/1715	1	1			c.988C>T						19	SNP	c.(988-990)CGC>TGC	58	58				0	Broad	Meis1, myeloid ecotropic viral integration site			47910342		0.612	ENSG00000105419	9296	g.chr19:47910342G>A		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							4.178405	KEEP	4	1	-1	20	15	4	1	-1	8.335602	20	15	0.129032	1	0	0	0	0	1	0	0	0	--	--		0	A			MEIS3_uc010xyp.1_RNA|MEIS3_uc002pgo.2_Missense_Mutation_p.R129C|MEIS3_uc002pgp.2_Missense_Mutation_p.R162C|MEIS3_uc002pgq.2_Missense_Mutation_p.R411C|MEIS3_uc002pgr.2_Missense_Mutation_p.R198C|MEIS3_uc002pgt.2_Missense_Mutation_p.R313C|MEIS3_uc002pgv.2_Missense_Mutation_p.R359C|MEIS3_uc002pgs.2_Missense_Mutation_p.R376C|MEIS3_uc010eld.2_Missense_Mutation_p.R376C	28	GBM-06-0157-TP	p.R330C	G	GTACCTGTGCGGTTGGATTGA	NM_001009813	NP_001009813	47910342	Q99687	MEIS3_HUMAN	0		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)	10	1435	-	A	A		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	Missense_Mutation	330						
MEIS3	0	broad.mit.edu	GRCh37	19	47920129	47920129	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-1982-01	TCGA-32-1982-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000558555.1:c.277A>G	p.Thr93Ala	p.T93A	ENST00000558555		93	Aca/Gca	0			1			C	T/A	uc002pgu.2	protein_coding					277/1128										0	c.(277-279)ACA>GCA			Low_complexity_(Seg):seg,hmmpanther:PTHR11850:SF71,hmmpanther:PTHR11850	Meis1, myeloid ecotropic viral integration site				ENSP00000454073		13-Mar									COSM3748062	13-Mar	.		ENST00000558555	Transcript				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000105419	g.chr19:47920129T>C	29537			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=ME3L1_HUMAN&rb=1&re=178&var=H9A	NA	getma.org/?cm=var&var=hg19,19,47920129,T,C&fts=all	H9A	--	--	1																																		MEIS3_uc002pgp.2_5'Flank|MEIS3_uc002pgq.2_Missense_Mutation_p.T174A|MEIS3_uc002pgr.2_5'UTR|MEIS3_uc002pgt.2_Missense_Mutation_p.T93A|MEIS3_uc002pgv.2_Missense_Mutation_p.T93A|MEIS3_uc002pgs.2_Missense_Mutation_p.T93A|MEIS3_uc010eld.2_Missense_Mutation_p.T93A|MEIS3_uc002pgw.2_3'UTR	1			benign(0.001)	p.T93A	NM_001009813	NP_001009813		tolerated(0.34)	1	MEIS3_HUMAN	MEIS3	HGNC	Q99687	MEIS3_HUMAN		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)			3	724	-		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	UPI00004C800D	93					SNV	MEIS3,missense_variant,p.Thr93Ala,ENST00000331559,NM_020160.2;MEIS3,missense_variant,p.Thr93Ala,ENST00000561293,;MEIS3,missense_variant,p.Thr181Ala,ENST00000561096,;MEIS3,missense_variant,p.Thr93Ala,ENST00000559524,;MEIS3,missense_variant,p.Thr93Ala,ENST00000441740,NM_001009813.2;MEIS3,missense_variant,p.Thr93Ala,ENST00000558555,;MEIS3,missense_variant,p.Thr93Ala,ENST00000557833,;MEIS3,upstream_gene_variant,,ENST00000560245,;MEIS3,upstream_gene_variant,,ENST00000559338,;MEIS3,non_coding_transcript_exon_variant,,ENST00000607330,;MEIS3,upstream_gene_variant,,ENST00000560253,;MEIS3,non_coding_transcript_exon_variant,,ENST00000561204,;MEIS3,non_coding_transcript_exon_variant,,ENST00000561040,;	uc002pgu.2	c.277A>G	465/1715	3	3			c.277A>G						19	SNP	c.(277-279)ACA>GCA	53	53				0	Broad	Meis1, myeloid ecotropic viral integration site			47920129		0.632	ENSG00000105419	9296	g.chr19:47920129T>C		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							9.789392	KEEP	0	5	-1	23	13	0	5	-1	14.059266	23	13	0.142857	1	0	0	0	0	1	0	0	0	--	--		0	C			MEIS3_uc002pgp.2_5'Flank|MEIS3_uc002pgq.2_Missense_Mutation_p.T174A|MEIS3_uc002pgr.2_5'UTR|MEIS3_uc002pgt.2_Missense_Mutation_p.T93A|MEIS3_uc002pgv.2_Missense_Mutation_p.T93A|MEIS3_uc002pgs.2_Missense_Mutation_p.T93A|MEIS3_uc010eld.2_Missense_Mutation_p.T93A|MEIS3_uc002pgw.2_3'UTR	232	GBM-32-1982-TP	p.T93A	T	CCAGGGGGTGTCCCCAGCCCA	NM_001009813	NP_001009813	47920129	Q99687	MEIS3_HUMAN	0		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)	3	724	-	C	C		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	Missense_Mutation	93						
MEN1	4221	broad.mit.edu	GRCh37	11	64575552	64575552	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2561-01	TCGA-06-2561-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337652.1:c.480C>T	p.Ser160=	p.S160=	ENST00000337652	NM_130803.2	160	tcC/tcT	0			1			A	S	uc001obj.2	protein_coding	YES	CCDS8083.1			480/1848	D|Mis|N|F|S			parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid	parathyroid tumors|Pancreatic neuroendocrine tumors				parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238	c.(478-480)TCC>TCT			hmmpanther:PTHR12693,hmmpanther:PTHR12693:SF3,Pfam_domain:PF05053	menin isoform 1				ENSP00000337088		10-Mar									COSM3398028	10-Mar	.	Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1	ENST00000337652	Transcript	1		DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	ENSG00000133895	g.chr11:64575552G>A	7010			LOW								--	--	1																																		MEN1_uc001obk.2_Silent_p.S160S|MEN1_uc001obl.2_Silent_p.S155S|MEN1_uc001obm.2_Silent_p.S155S|MEN1_uc001obn.2_Silent_p.S160S|MEN1_uc001obo.2_Silent_p.S160S|MEN1_uc001obp.2_Silent_p.S155S|MEN1_uc001obq.2_Silent_p.S160S|MEN1_uc001obr.2_Silent_p.S160S	1	1			p.S160S	NM_130800	NP_570712			1	MEN1_HUMAN	MEN1	HGNC	O00255	MEN1_HUMAN			Q9GZQ5_HUMAN		3	553	-			UPI0000246DC0	160		S -> F (in MEN1).			SNV	MEN1,synonymous_variant,p.=,ENST00000337652,NM_130803.2;MEN1,synonymous_variant,p.=,ENST00000394374,NM_130802.2;MEN1,synonymous_variant,p.=,ENST00000377326,NM_130800.2,NM_130801.2;MEN1,synonymous_variant,p.=,ENST00000315422,;MEN1,synonymous_variant,p.=,ENST00000394376,NM_130804.2;MEN1,synonymous_variant,p.=,ENST00000377316,;MEN1,synonymous_variant,p.=,ENST00000443283,NM_000244.3;MEN1,synonymous_variant,p.=,ENST00000312049,NM_130799.2;MEN1,synonymous_variant,p.=,ENST00000377321,;MEN1,synonymous_variant,p.=,ENST00000377313,;MEN1,synonymous_variant,p.=,ENST00000440873,;MEN1,synonymous_variant,p.=,ENST00000450708,;MEN1,synonymous_variant,p.=,ENST00000413626,;MAP4K2,upstream_gene_variant,,ENST00000294066,NM_004579.3;MAP4K2,upstream_gene_variant,,ENST00000377350,;MAP4K2,upstream_gene_variant,,ENST00000439069,;MEN1,downstream_gene_variant,,ENST00000429702,;MEN1,downstream_gene_variant,,ENST00000424912,;MEN1,upstream_gene_variant,,ENST00000478548,;MAP4K2,upstream_gene_variant,,ENST00000468062,;MEN1,upstream_gene_variant,,ENST00000487019,;MAP4K2,upstream_gene_variant,,ENST00000435926,;MAP4K2,upstream_gene_variant,,ENST00000433890,;MAP4K2,upstream_gene_variant,,ENST00000444560,;	uc001obj.2	c.480C>T	984/3162	1	1			c.480C>T	D|Mis|N|F|S			parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid	parathyroid tumors|Pancreatic neuroendocrine tumors	11	SNP	c.(478-480)TCC>TCT	64	64			parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238	Broad	menin isoform 1			64575552	Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1	0.602	ENSG00000133895	9299	g.chr11:64575552G>A	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	Esophageal Squamous(1;83 158 15500 18603 18803 29295)		75	Esophageal Squamous(1;83 158 15500 18603 18803 29295)		75	1.896173	KEEP	2	1	-1	12	22	2	1	-1	7.985965	12	22	0.085714	1	0	0	0	0	0	0	1	0	--	--		0	A			MEN1_uc001obk.2_Silent_p.S160S|MEN1_uc001obl.2_Silent_p.S155S|MEN1_uc001obm.2_Silent_p.S155S|MEN1_uc001obn.2_Silent_p.S160S|MEN1_uc001obo.2_Silent_p.S160S|MEN1_uc001obp.2_Silent_p.S155S|MEN1_uc001obq.2_Silent_p.S160S|MEN1_uc001obr.2_Silent_p.S160S	84	GBM-06-2561-TP	p.S160S	G	AGGCCACACCGGAGCTGTCCA	NM_130800	NP_570712	64575552	O00255	MEN1_HUMAN	0			3	553	-	A	A			Silent	160		S -> F (in MEN1).				
MEN1	0	broad.mit.edu	GRCh37	11	64575521	64575521	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5218-01	TCGA-28-5218-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337652.1:c.511C>T	p.Gln171Ter	p.Q171*	ENST00000337652	NM_130803.2	171	Cag/Tag	0			1			A	Q/*	uc001obj.2	protein_coding	YES	CCDS8083.1			511/1848	D|Mis|N|F|S			parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid	parathyroid tumors|Pancreatic neuroendocrine tumors			p.R171Q(1)	parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238	c.(511-513)CAG>TAG			hmmpanther:PTHR12693,hmmpanther:PTHR12693:SF3,Pfam_domain:PF05053	menin isoform 1				ENSP00000337088		10-Mar									COSM1659156	10-Mar	.	Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1	ENST00000337652	Transcript	1		DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	ENSG00000133895	g.chr11:64575521G>A	7010			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,11,64575521,G,A&fts=all	Q171*	--	--	1																																		MEN1_uc001obk.2_Nonsense_Mutation_p.Q171*|MEN1_uc001obl.2_Nonsense_Mutation_p.Q166*|MEN1_uc001obm.2_Nonsense_Mutation_p.Q166*|MEN1_uc001obn.2_Nonsense_Mutation_p.Q171*|MEN1_uc001obo.2_Nonsense_Mutation_p.Q171*|MEN1_uc001obp.2_Nonsense_Mutation_p.Q166*|MEN1_uc001obq.2_Nonsense_Mutation_p.Q171*|MEN1_uc001obr.2_Nonsense_Mutation_p.Q171*	1	1			p.Q171*	NM_130800	NP_570712			1	MEN1_HUMAN	MEN1	HGNC	O00255	MEN1_HUMAN			Q9GZQ5_HUMAN		3	584	-			UPI0000246DC0	171		Missing (in MEN1).			SNV	MEN1,stop_gained,p.Gln171Ter,ENST00000337652,NM_130803.2;MEN1,stop_gained,p.Gln171Ter,ENST00000394374,NM_130802.2;MEN1,stop_gained,p.Gln166Ter,ENST00000377326,NM_130800.2,NM_130801.2;MEN1,stop_gained,p.Gln166Ter,ENST00000315422,;MEN1,stop_gained,p.Gln171Ter,ENST00000394376,NM_130804.2;MEN1,stop_gained,p.Gln166Ter,ENST00000377316,;MEN1,stop_gained,p.Gln171Ter,ENST00000443283,NM_000244.3;MEN1,stop_gained,p.Gln166Ter,ENST00000312049,NM_130799.2;MEN1,stop_gained,p.Gln166Ter,ENST00000377321,;MEN1,stop_gained,p.Gln171Ter,ENST00000377313,;MEN1,stop_gained,p.Gln166Ter,ENST00000440873,;MEN1,stop_gained,p.Gln166Ter,ENST00000450708,;MEN1,stop_gained,p.Gln166Ter,ENST00000413626,;MAP4K2,upstream_gene_variant,,ENST00000294066,NM_004579.3;MAP4K2,upstream_gene_variant,,ENST00000377350,;MAP4K2,upstream_gene_variant,,ENST00000439069,;MEN1,downstream_gene_variant,,ENST00000429702,;MEN1,downstream_gene_variant,,ENST00000424912,;MEN1,upstream_gene_variant,,ENST00000478548,;MAP4K2,upstream_gene_variant,,ENST00000468062,;MEN1,upstream_gene_variant,,ENST00000487019,;MAP4K2,upstream_gene_variant,,ENST00000435926,;MAP4K2,upstream_gene_variant,,ENST00000433890,;MAP4K2,upstream_gene_variant,,ENST00000444560,;	uc001obj.2	c.511C>T	1015/3162	5	2			c.511C>T	D|Mis|N|F|S			parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid	parathyroid tumors|Pancreatic neuroendocrine tumors	11	SNP	c.(511-513)CAG>TAG	18	18		p.R171Q(1)	parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238	Broad	menin isoform 1			64575521	Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1	0.602	ENSG00000133895	9299	g.chr11:64575521G>A	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	Esophageal Squamous(1;83 158 15500 18603 18803 29295)		75	Esophageal Squamous(1;83 158 15500 18603 18803 29295)		75	66.031639	KEEP	9	14	-1	13	14	9	14	-1	66.051405	13	14	0.52381	1	0	0	0	0	0	1	0	0	--	--		0	A			MEN1_uc001obk.2_Nonsense_Mutation_p.Q171*|MEN1_uc001obl.2_Nonsense_Mutation_p.Q166*|MEN1_uc001obm.2_Nonsense_Mutation_p.Q166*|MEN1_uc001obn.2_Nonsense_Mutation_p.Q171*|MEN1_uc001obo.2_Nonsense_Mutation_p.Q171*|MEN1_uc001obp.2_Nonsense_Mutation_p.Q166*|MEN1_uc001obq.2_Nonsense_Mutation_p.Q171*|MEN1_uc001obr.2_Nonsense_Mutation_p.Q171*	224	GBM-28-5218-TP	p.Q171*	G	CCCAGGGCCTGGCAGGCCCCA	NM_130800	NP_570712	64575521	O00255	MEN1_HUMAN	0			3	584	-	A	A			Nonsense_Mutation	171		Missing (in MEN1).				
MEN1	0	broad.mit.edu	GRCh37	11	64572600	64572600	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-3915-01	TCGA-41-3915-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337652.1:c.1271G>A	p.Gly424Asp	p.G424D	ENST00000337652	NM_130803.2	424	gGc/gAc	0			1			T	G/D	uc001obj.2	protein_coding	YES	CCDS8083.1			1271/1848	D|Mis|N|F|S			parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid	parathyroid tumors|Pancreatic neuroendocrine tumors			p.L414_E425del(1)|p.G419fs*26(1)	parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238	c.(1270-1272)GGC>GAC			hmmpanther:PTHR12693,hmmpanther:PTHR12693:SF3,Pfam_domain:PF05053	menin isoform 1				ENSP00000337088		10-Sep									COSM3398026	10-Sep	.	Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1	ENST00000337652	Transcript	1		DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	ENSG00000133895	g.chr11:64572600C>T	7010			MODERATE		2.05	medium	getma.org/?cm=msa&ty=f&p=MEN1_HUMAN&rb=1&re=615&var=G424D	getma.org/pdb.php?prot=MEN1_HUMAN&from=1&to=615&var=G424D	getma.org/?cm=var&var=hg19,11,64572600,C,T&fts=all	G424D	--	--	1																																		MAP4K2_uc001obh.2_5'Flank|MAP4K2_uc001obi.2_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.2_Missense_Mutation_p.G424D|MEN1_uc001obl.2_Missense_Mutation_p.G384D|MEN1_uc001obm.2_Missense_Mutation_p.G419D|MEN1_uc001obn.2_Missense_Mutation_p.G424D|MEN1_uc001obo.2_Missense_Mutation_p.G424D|MEN1_uc001obp.2_Missense_Mutation_p.G419D|MEN1_uc001obq.2_Missense_Mutation_p.G424D|MEN1_uc001obr.2_Missense_Mutation_p.G424D	1	1		probably_damaging(0.996)	p.G424D	NM_130800	NP_570712		deleterious(0)	1	MEN1_HUMAN	MEN1	HGNC	O00255	MEN1_HUMAN			Q9GZQ5_HUMAN		9	1344	-			UPI0000246DC0	424		Missing (in MEN1).			SNV	MEN1,missense_variant,p.Gly424Asp,ENST00000337652,NM_130803.2;MEN1,missense_variant,p.Gly424Asp,ENST00000394374,NM_130802.2;MEN1,missense_variant,p.Gly419Asp,ENST00000377326,NM_130800.2,NM_130801.2;MEN1,missense_variant,p.Gly419Asp,ENST00000315422,;MEN1,missense_variant,p.Gly424Asp,ENST00000394376,NM_130804.2;MEN1,missense_variant,p.Gly424Asp,ENST00000443283,NM_000244.3;MEN1,missense_variant,p.Gly419Asp,ENST00000312049,NM_130799.2;MEN1,missense_variant,p.Gly384Asp,ENST00000377321,;MEN1,missense_variant,p.Gly424Asp,ENST00000377313,;MEN1,intron_variant,,ENST00000377316,;MAP4K2,upstream_gene_variant,,ENST00000294066,NM_004579.3;MAP4K2,upstream_gene_variant,,ENST00000377350,;MEN1,downstream_gene_variant,,ENST00000440873,;MAP4K2,upstream_gene_variant,,ENST00000439069,;MEN1,downstream_gene_variant,,ENST00000429702,;MEN1,downstream_gene_variant,,ENST00000450708,;MEN1,downstream_gene_variant,,ENST00000413626,;MEN1,downstream_gene_variant,,ENST00000424912,;MEN1,non_coding_transcript_exon_variant,,ENST00000478548,;MEN1,non_coding_transcript_exon_variant,,ENST00000487019,;MAP4K2,upstream_gene_variant,,ENST00000468062,;MAP4K2,upstream_gene_variant,,ENST00000482314,;MAP4K2,upstream_gene_variant,,ENST00000493428,;MAP4K2,upstream_gene_variant,,ENST00000435926,;MAP4K2,upstream_gene_variant,,ENST00000433890,;MAP4K2,upstream_gene_variant,,ENST00000444560,;	uc001obj.2	c.1271G>A	1775/3162	1	1			c.1271G>A	D|Mis|N|F|S			parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid	parathyroid tumors|Pancreatic neuroendocrine tumors	11	SNP	c.(1270-1272)GGC>GAC	1	1		p.L414_E425del(1)|p.G419fs*26(1)	parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238	Broad	menin isoform 1			64572600	Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1	0.637	ENSG00000133895	9299	g.chr11:64572600C>T	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	Esophageal Squamous(1;83 158 15500 18603 18803 29295)		75	Esophageal Squamous(1;83 158 15500 18603 18803 29295)		75	2.934193	KEEP	3	6	-1	47	42	3	6	-1	17.00844	47	42	0.094118	1	0	0	0	0	1	0	0	0	--	--		0	T			MAP4K2_uc001obh.2_5'Flank|MAP4K2_uc001obi.2_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.2_Missense_Mutation_p.G424D|MEN1_uc001obl.2_Missense_Mutation_p.G384D|MEN1_uc001obm.2_Missense_Mutation_p.G419D|MEN1_uc001obn.2_Missense_Mutation_p.G424D|MEN1_uc001obo.2_Missense_Mutation_p.G424D|MEN1_uc001obp.2_Missense_Mutation_p.G419D|MEN1_uc001obq.2_Missense_Mutation_p.G424D|MEN1_uc001obr.2_Missense_Mutation_p.G424D	256	GBM-41-3915-TP	p.G424D	C	TTTGCAGATGCCGTCGTAGAA	NM_130800	NP_570712	64572600	O00255	MEN1_HUMAN	0			9	1344	-	T	T			Missense_Mutation	424		Missing (in MEN1).				
MEP1A	4224	broad.mit.edu	GRCh37	6	46806843	46806843	+	synonymous_variant	Silent	SNP	C	C	T	rs139598232	byFrequency	TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000230588.4:c.2211C>T	p.Ile737=	p.I737=	ENST00000230588	NM_005588.2	737	atC/atT	0	T:0.0005		1			T	I	uc010jzh.1	protein_coding	YES	CCDS4918.1			2211/2241									pancreas(2)|ovary(1)	3	c.(2209-2211)ATC>ATT			PIRSF_domain:PIRSF001196,Transmembrane_helices:TMhelix	meprin A alpha precursor			T:0.0002	ENSP00000230588		14/14	9.88E-05	0.000289	0.000173	0.000116		9.02E-05			rs139598232,COSM3748344	14/14	.		ENST00000230588	Transcript			digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	ENSG00000112818	g.chr6:46806843C>T	7015			LOW								--	--	1																																		MEP1A_uc011dwg.1_Silent_p.I459I|MEP1A_uc011dwh.1_Silent_p.I765I|MEP1A_uc011dwi.1_Silent_p.I637I	0,1	1			p.I737I	NM_005588	NP_005579			0,1	MEP1A_HUMAN	MEP1A	HGNC	Q16819	MEP1A_HUMAN	Lung(136;0.192)				14	2253	+			UPI000006E4E9	737			Helical; (Potential).		SNV	MEP1A,synonymous_variant,p.=,ENST00000230588,NM_005588.2;	uc010jzh.1	c.2211C>T	2220/2892	2	2			c.2211C>T						6	SNP	c.(2209-2211)ATC>ATT	46	46			pancreas(2)|ovary(1)	3	Broad	meprin A alpha precursor			46806843		0.602	ENSG00000112818	9302	g.chr6:46806843C>T	digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding							133.088835	KEEP	22	23	-1	29	31	22	23	-1	133.354681	29	31	0.444444	1	0	0	0	0	0	0	1	0	--	--		0	T			MEP1A_uc011dwg.1_Silent_p.I459I|MEP1A_uc011dwh.1_Silent_p.I765I|MEP1A_uc011dwi.1_Silent_p.I637I	65	GBM-06-0743-TP	p.I737I	C	TCTCCATCATCGCCATCCTTT	NM_005588	NP_005579	46806843	Q16819	MEP1A_HUMAN	0	Lung(136;0.192)		14	2253	+	T	T			Silent	737			Helical; (Potential).			
MEP1A	0	broad.mit.edu	GRCh37	6	46797155	46797155	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01	TCGA-28-2502-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000230588.4:c.991G>A	p.Glu331Lys	p.E331K	ENST00000230588	NM_005588.2	331	Gag/Aag	0			1			A	E/K	uc010jzh.1	protein_coding	YES	CCDS4918.1			991/2241									pancreas(2)|ovary(1)	3	c.(991-993)GAG>AAG			Pfam_domain:PF00629,PIRSF_domain:PIRSF001196,PROSITE_patterns:PS00740,PROSITE_profiles:PS50060,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF311,SMART_domains:SM00137,Superfamily_domains:SSF49899	meprin A alpha precursor				ENSP00000230588		14-Oct									COSM3411151	14-Oct	.		ENST00000230588	Transcript			digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	ENSG00000112818	g.chr6:46797155G>A	7015			MODERATE		2.955	medium	getma.org/?cm=msa&ty=f&p=MEP1A_HUMAN&rb=269&re=433&var=E331K	NA	getma.org/?cm=var&var=hg19,6,46797155,G,A&fts=all	E331K	--	--	1																																		MEP1A_uc011dwg.1_Missense_Mutation_p.E53K|MEP1A_uc011dwh.1_Missense_Mutation_p.E359K|MEP1A_uc011dwi.1_Missense_Mutation_p.E231K	1	1		probably_damaging(1)	p.E331K	NM_005588	NP_005579		deleterious(0)	1	MEP1A_HUMAN	MEP1A	HGNC	Q16819	MEP1A_HUMAN	Lung(136;0.192)				10	1033	+			UPI000006E4E9	331			Extracellular (Potential).|MAM.		SNV	MEP1A,missense_variant,p.Glu331Lys,ENST00000230588,NM_005588.2;	uc010jzh.1	c.991G>A	1000/2892	1	1			c.991G>A						6	SNP	c.(991-993)GAG>AAG	62	62			pancreas(2)|ovary(1)	3	Broad	meprin A alpha precursor			46797155		0.532	ENSG00000112818	9302	g.chr6:46797155G>A	digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding							106.621562	KEEP	21	31	-1	88	104	21	31	-1	120.964541	88	104	0.225962	1	0	0	0	0	1	0	0	0	--	--		0	A			MEP1A_uc011dwg.1_Missense_Mutation_p.E53K|MEP1A_uc011dwh.1_Missense_Mutation_p.E359K|MEP1A_uc011dwi.1_Missense_Mutation_p.E231K	210	GBM-28-2502-TP	p.E331K	G	AGCCCTACTGGAGTCTCGGAT	NM_005588	NP_005579	46797155	Q16819	MEP1A_HUMAN	0	Lung(136;0.192)		10	1033	+	A	A			Missense_Mutation	331			Extracellular (Potential).|MAM.			
MEP1B	0	broad.mit.edu	GRCh37	18	29787380	29787380	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269202.6:c.713G>A	p.Arg238Gln	p.R238Q	ENST00000269202	NM_005925.2	238	cGa/cAa	0			1			A	R/Q	uc002kxj.3	protein_coding	YES	CCDS45846.1			713/2106									ovary(2)	2	c.(712-714)CGA>CAA			Gene3D:3.40.390.10,Pfam_domain:PF01400,PIRSF_domain:PIRSF001196,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF312,Superfamily_domains:SSF55486	meprin A beta precursor				ENSP00000269202		15-Aug									COSM3403522	15-Aug	.		ENST00000269202	Transcript			digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	ENSG00000141434	g.chr18:29787380G>A	7020			MODERATE		3.125	medium	getma.org/?cm=msa&ty=f&p=MEP1B_HUMAN&rb=69&re=257&var=R238Q	getma.org/pdb.php?prot=MEP1B_HUMAN&from=69&to=257&var=R238Q	getma.org/?cm=var&var=hg19,18,29787380,G,A&fts=all	R238Q	--	--	1																																			1	1		probably_damaging(0.999)	p.R238Q	NM_005925	NP_005916		deleterious(0)	1	MEP1B_HUMAN	MEP1B	HGNC	Q16820	MEP1B_HUMAN			J3KRK1_HUMAN		8	760	+			UPI0000201B8B	238			Extracellular (Potential).|Metalloprotease.		SNV	MEP1B,missense_variant,p.Arg238Gln,ENST00000269202,NM_005925.2;MEP1B,missense_variant,p.Arg238Gln,ENST00000581447,;GAREM,intron_variant,,ENST00000583696,;MEP1B,downstream_gene_variant,,ENST00000581184,;MEP1B,downstream_gene_variant,,ENST00000579919,;	uc002kxj.3	c.713G>A	760/2312	2	2			c.713G>A						18	SNP	c.(712-714)CGA>CAA	36	36			ovary(2)	2	Broad	meprin A beta precursor			29787380		0.388	ENSG00000141434	9303	g.chr18:29787380G>A	digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding							43.038911	KEEP	8	8	-1	9	18	8	8	-1	43.722053	9	18	0.358974	1	0	0	0	0	1	0	0	0	--	--		0	A				125	GBM-12-3649-TP	p.R238Q	G	ATCGGCCAACGAATGGATTTC	NM_005925	NP_005916	29787380	Q16820	MEP1B_HUMAN	0			8	760	+	A	A			Missense_Mutation	238			Extracellular (Potential).|Metalloprotease.			
MERTK	10461		GRCh37	2	112785992	112785992	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000295408.4:c.2551A>G	p.Arg851Gly	p.R851G	ENST00000295408		851	Agg/Ggg	0																																																																																																																																																																																																																																												
MESDC1	0	broad.mit.edu	GRCh37	15	81295114	81295114	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267984.2:c.502C>T	p.Arg168Cys	p.R168C	ENST00000267984	NM_022566.2	168	Cgc/Tgc	0	T:0		1			T	R/C	uc002bfz.2	protein_coding	YES	CCDS10316.1			502/1089										0	c.(502-504)CGC>TGC			hmmpanther:PTHR19981	mesoderm development candidate 1			T:0.0001	ENSP00000267984		1-Jan	8.78E-06					0.000157			rs372825596,COSM3401954	1-Jan	.		ENST00000267984	Transcript						ENSG00000140406	g.chr15:81295114C>T	13519			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=MESD1_HUMAN&rb=1&re=360&var=R168C	getma.org/pdb.php?prot=MESD1_HUMAN&from=1&to=360&var=R168C	getma.org/?cm=var&var=hg19,15,81295114,C,T&fts=all	R168C	--	--	1																																			0,1	1		possibly_damaging(0.736)	p.R168C	NM_022566	NP_072088		deleterious(0)	0,1	MESD1_HUMAN	MESDC1	HGNC	Q9H1K6	MESD1_HUMAN					1	1820	+			UPI000012EE04	168					SNV	MESDC1,missense_variant,p.Arg168Cys,ENST00000267984,NM_022566.2;C15orf26,upstream_gene_variant,,ENST00000560091,;	uc002bfz.2	c.502C>T	1820/3048	1	1			c.502C>T						15	SNP	c.(502-504)CGC>TGC	5	5				0	Broad	mesoderm development candidate 1			81295114		0.746	ENSG00000140406	9307	g.chr15:81295114C>T										22.928398	KEEP	3	4	-1	2	1	3	4	-1	23.285496	2	1	0.7	1	0	0	0	0	1	0	0	0	--	--		0	T				102	GBM-06-5858-TP	p.R168C	C	CGCCGTGCTGCGCGCCACGCC	NM_022566	NP_072088	81295114	Q9H1K6	MESD1_HUMAN	0			1	1820	+	T	T			Missense_Mutation	168						
MESDC2	0	broad.mit.edu	GRCh37	15	81282094	81282094	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-15-0742-01	TCGA-15-0742-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261758.4:c.39G>T	p.Leu13=	p.L13=	ENST00000261758	NM_015154.1	13	ctG/ctT	0			1			A	L	uc002bfy.1	protein_coding	YES	CCDS32308.1			39/705										0	c.(37-39)CTG>CTT			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR17600:SF2,hmmpanther:PTHR17600	mesoderm development candidate 2				ENSP00000261758		3-Jan									COSM3747982	3-Jan	.		ENST00000261758	Transcript			mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum		ENSG00000117899	g.chr15:81282094C>A	13520			LOW								--	--	1																																		MESDC2_uc002bfx.2_RNA|MESDC2_uc010uno.1_RNA	1	1			p.L13L	NM_015154	NP_055969			1	MESD_HUMAN	MESDC2	HGNC	Q14696	MESD_HUMAN					1	112	-			UPI0000048F2F	13			Chaperone domain (By similarity).		SNV	MESDC2,synonymous_variant,p.=,ENST00000261758,NM_015154.1;RP11-775C24.3,downstream_gene_variant,,ENST00000563737,;MESDC2,synonymous_variant,p.=,ENST00000561312,;MESDC2,synonymous_variant,p.=,ENST00000422879,;MESDC2,synonymous_variant,p.=,ENST00000559537,;	uc002bfy.1	c.39G>T	126/4257	1	1			c.39G>T						15	SNP	c.(37-39)CTG>CTT	49	49				0	Broad	mesoderm development candidate 2			81282094		0.652	ENSG00000117899	9308	g.chr15:81282094C>A	mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum								2.400614	KEEP	2	1	0.333333333	16	15	2	1	0.333333333	7.197189	16	15	0.1	1	0	0	0	0	0	0	1	0	--	--		0	A			MESDC2_uc002bfx.2_RNA|MESDC2_uc010uno.1_RNA	153	GBM-15-0742-TP	p.L13L	C	AGGCACAAAGCAGGACCACGG	NM_015154	NP_055969	81282094	Q14696	MESD_HUMAN	0			1	112	-	A	A			Silent	13			Chaperone domain (By similarity).			
MESP2	145873		GRCh37	15	90321328	90321328	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000341735.3:c.957G>A	p.Ser319=	p.S319=	ENST00000341735	NM_001039958.1	319	tcG/tcA	0																																																																																																																																																																																																																																												
MEST	4232	broad.mit.edu	GRCh37	7	130139717	130139717	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	A			TCGA-06-0130-01	TCGA-06-0130-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000223215.4:c.537T>A		p.X179_splice	ENST00000223215	NM_001253900.1	179	ggT/ggA	0			1			A	G	uc003vqg.2	protein_coding	YES	CCDS5822.1			537/1008									ovary(2)	2	c.(535-537)GGT>GGA			Gene3D:3.40.50.1820,Pfam_domain:PF12697,hmmpanther:PTHR10992,hmmpanther:PTHR10992:SF25,Superfamily_domains:SSF53474	mesoderm specific transcript isoform a				ENSP00000223215		12-Jul									COSM3748354	12-Jul	.		ENST00000223215	Transcript			mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding	ENSG00000106484	g.chr7:130139717T>A	7028			LOW								--	--	1																																		MEST_uc003vqc.2_Silent_p.G170G|MEST_uc003vqd.2_Silent_p.G170G|MEST_uc003vqf.2_Silent_p.G170G|MEST_uc011kph.1_Silent_p.G165G|MEST_uc010lmg.2_Silent_p.G179G	1	1			p.G179G	NM_002402	NP_002393			1	MEST_HUMAN	MEST	HGNC	Q5EB52	MEST_HUMAN			C9JCM6_HUMAN,C9JWU9_HUMAN,C9JUD2_HUMAN,C9JRA9_HUMAN,C9JG66_HUMAN,A4D1L9_HUMAN		7	754	+	Melanoma(18;0.0435)		UPI000006DE62	179					SNV	MEST,splice_region_variant,p.=,ENST00000223215,NM_001253900.1,NM_002402.3;MEST,splice_region_variant,p.=,ENST00000341441,NM_177524.2;MEST,splice_region_variant,p.=,ENST00000393187,NM_177525.2;MEST,splice_region_variant,p.=,ENST00000378576,;MEST,splice_region_variant,p.=,ENST00000416162,NM_001253902.1,NM_001253901.1;MEST,splice_region_variant,p.=,ENST00000437945,;MEST,splice_region_variant,p.=,ENST00000427521,;MEST,splice_region_variant,p.=,ENST00000421001,;MEST,splice_region_variant,p.=,ENST00000463263,;MEST,downstream_gene_variant,,ENST00000433159,;MEST,downstream_gene_variant,,ENST00000437637,;MEST,downstream_gene_variant,,ENST00000458161,;MEST,downstream_gene_variant,,ENST00000399874,;MIR335,downstream_gene_variant,,ENST00000362173,;hsa-mir-335,upstream_gene_variant,,ENST00000604666,;MEST,splice_region_variant,,ENST00000462132,;MEST,downstream_gene_variant,,ENST00000460590,;MEST,splice_region_variant,,ENST00000488093,;MEST,splice_region_variant,,ENST00000494868,;MEST,downstream_gene_variant,,ENST00000475188,;	uc003vqg.2	c.537T>A	758/2465	1	1			c.537T>A						7	SNP	c.(535-537)GGT>GGA	64	64			ovary(2)	2	Broad	mesoderm specific transcript isoform a			130139717		0.284	ENSG00000106484	9310	g.chr7:130139717T>A	mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding	Colon(126;2182 2305 6517 35181)			Colon(126;2182 2305 6517 35181)			58.91529	KEEP	16	17	-1	77	63	16	17	-1	73.769624	77	63	0.180645	1	0	0	0	0	0	0	1	0	--	--		0	A			MEST_uc003vqc.2_Silent_p.G170G|MEST_uc003vqd.2_Silent_p.G170G|MEST_uc003vqf.2_Silent_p.G170G|MEST_uc011kph.1_Silent_p.G165G|MEST_uc010lmg.2_Silent_p.G179G	16	GBM-06-0130-TP	p.G179G	T	CTTCTACAGGTATCTTTCCTG	NM_002402	NP_002393	130139717	Q5EB52	MEST_HUMAN	0			7	754	+	A	A	Melanoma(18;0.0435)		Silent	179						
MEST	0	broad.mit.edu	GRCh37	7	130140656	130140656	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000223215.4:c.674C>G	p.Thr225Ser	p.T225S	ENST00000223215	NM_001253900.1	225	aCt/aGt	0			1			G	T/S	uc003vqg.2	protein_coding	YES	CCDS5822.1			674/1008									ovary(2)	2	c.(673-675)ACT>AGT			Gene3D:3.40.50.1820,Pfam_domain:PF12697,hmmpanther:PTHR10992,hmmpanther:PTHR10992:SF25,Superfamily_domains:SSF53474	mesoderm specific transcript isoform a				ENSP00000223215		12-Sep									COSM3411588	12-Sep	.		ENST00000223215	Transcript			mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding	ENSG00000106484	g.chr7:130140656C>G	7028			MODERATE		1.745	low	getma.org/?cm=msa&ty=f&p=MEST_HUMAN&rb=72&re=327&var=T225S	getma.org/pdb.php?prot=MEST_HUMAN&from=72&to=327&var=T225S	getma.org/?cm=var&var=hg19,7,130140656,C,G&fts=all	T225S	--	--	1																																		MEST_uc003vqc.2_Missense_Mutation_p.T216S|MEST_uc003vqd.2_Intron|MEST_uc003vqf.2_Missense_Mutation_p.T216S|MEST_uc011kph.1_Missense_Mutation_p.T211S|MEST_uc010lmg.2_Missense_Mutation_p.T225S	1	1		possibly_damaging(0.654)	p.T225S	NM_002402	NP_002393		tolerated(0.07)	1	MEST_HUMAN	MEST	HGNC	Q5EB52	MEST_HUMAN			C9JCM6_HUMAN,C9JWU9_HUMAN,C9JUD2_HUMAN,C9JRA9_HUMAN,C9JG66_HUMAN,A4D1L9_HUMAN		9	891	+	Melanoma(18;0.0435)		UPI000006DE62	225					SNV	MEST,missense_variant,p.Thr225Ser,ENST00000223215,NM_001253900.1,NM_002402.3;MEST,missense_variant,p.Thr216Ser,ENST00000341441,NM_177524.2;MEST,missense_variant,p.Thr216Ser,ENST00000393187,NM_177525.2;MEST,missense_variant,p.Thr225Ser,ENST00000437945,;MEST,intron_variant,,ENST00000378576,;MEST,intron_variant,,ENST00000416162,NM_001253902.1,NM_001253901.1;MEST,intron_variant,,ENST00000427521,;MEST,intron_variant,,ENST00000463263,;MEST,downstream_gene_variant,,ENST00000421001,;MEST,downstream_gene_variant,,ENST00000433159,;MEST,downstream_gene_variant,,ENST00000437637,;MEST,downstream_gene_variant,,ENST00000458161,;MEST,downstream_gene_variant,,ENST00000399874,;MIR335,downstream_gene_variant,,ENST00000362173,;hsa-mir-335,upstream_gene_variant,,ENST00000604666,;MEST,non_coding_transcript_exon_variant,,ENST00000462132,;MEST,non_coding_transcript_exon_variant,,ENST00000488093,;MEST,downstream_gene_variant,,ENST00000475188,;MEST,downstream_gene_variant,,ENST00000494868,;	uc003vqg.2	c.674C>G	895/2465	3	3			c.674C>G						7	SNP	c.(673-675)ACT>AGT	53	53			ovary(2)	2	Broad	mesoderm specific transcript isoform a			130140656		0.428	ENSG00000106484	9310	g.chr7:130140656C>G	mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding	Colon(126;2182 2305 6517 35181)			Colon(126;2182 2305 6517 35181)			-1.282771	KEEP	0	2	-1	10	34	0	2	-1	6.47557	10	34	0.054054	1	0	0	0	0	1	0	0	0	--	--		0	G			MEST_uc003vqc.2_Missense_Mutation_p.T216S|MEST_uc003vqd.2_Intron|MEST_uc003vqf.2_Missense_Mutation_p.T216S|MEST_uc011kph.1_Missense_Mutation_p.T211S|MEST_uc010lmg.2_Missense_Mutation_p.T225S	229	GBM-32-1977-TP	p.T225S	C	GGGCCGTATACTCGGCCCTCT	NM_002402	NP_002393	130140656	Q5EB52	MEST_HUMAN	0			9	891	+	G	G	Melanoma(18;0.0435)		Missense_Mutation	225						
MET	0	broad.mit.edu	GRCh37	7	116340174	116340174	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-2495-01	TCGA-32-2495-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397752.3:c.1036T>C	p.Phe346Leu	p.F346L	ENST00000397752	NM_000245.2	346	Ttc/Ctc	0			1			C	F/L	uc003vij.2	protein_coding		CCDS43636.1			1036/4173	Mis			papillary renal	papillary renal|head-neck squamous cell				upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	c.(1036-1038)TTC>CTC			PROSITE_profiles:PS51004,Gene3D:2.130.10.10,Pfam_domain:PF01403,PIRSF_domain:PIRSF000617,SMART_domains:SM00630,Superfamily_domains:SSF101912	met proto-oncogene isoform b precursor				ENSP00000380860		21-Feb									COSM3411511	21-Feb	.	Hereditary_Papillary_Renal_Carcinoma_(type_1)	ENST00000397752	Transcript	1		axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	ENSG00000105976	g.chr7:116340174T>C	7029			MODERATE		3.38	medium	getma.org/?cm=msa&ty=f&p=MET_HUMAN&rb=52&re=500&var=F346L	getma.org/pdb.php?prot=MET_HUMAN&from=52&to=500&var=F346L	getma.org/?cm=var&var=hg19,7,116340174,T,C&fts=all	F346L	--	--	1																																		MET_uc010lkh.2_Missense_Mutation_p.F346L|MET_uc011knc.1_Missense_Mutation_p.F346L|MET_uc011knd.1_Missense_Mutation_p.F346L|MET_uc011kne.1_Missense_Mutation_p.F346L|MET_uc011knf.1_Missense_Mutation_p.F346L|MET_uc011kng.1_Missense_Mutation_p.F346L|MET_uc011knh.1_Missense_Mutation_p.F346L|MET_uc011kni.1_Missense_Mutation_p.F346L|MET_uc003vii.1_Missense_Mutation_p.F365L|MET_uc010lkg.2_Missense_Mutation_p.F346L|MET_uc011kmz.1_Missense_Mutation_p.F346L|MET_uc011kna.1_Missense_Mutation_p.F346L|MET_uc011knb.1_Missense_Mutation_p.F346L	1			probably_damaging(0.994)	p.F346L	NM_000245	NP_000236		deleterious(0)	1	MET_HUMAN	MET	HGNC	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		Q9UEJ3_HUMAN,B4DPY6_HUMAN,B4DLF5_HUMAN		2	1223	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	UPI000020F975	346			Extracellular (Potential).|Sema.		SNV	MET,missense_variant,p.Phe346Leu,ENST00000397752,NM_000245.2,NM_001127500.1;MET,missense_variant,p.Phe346Leu,ENST00000318493,;MET,missense_variant,p.Phe346Leu,ENST00000436117,;MET,downstream_gene_variant,,ENST00000456159,;	uc003vij.2	c.1036T>C	1236/6635	3	3			c.1036T>C	Mis			papillary renal	papillary renal|head-neck squamous cell	7	SNP	c.(1036-1038)TTC>CTC	60	60			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	Broad	met proto-oncogene isoform b precursor			116340174	Hereditary_Papillary_Renal_Carcinoma_(type_1)	0.468	ENSG00000105976	9311	g.chr7:116340174T>C	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			299			299	70.121872	KEEP	13	11	-1	24	35	13	11	-1	73.764702	24	35	0.275	1	0	0	0	0	1	0	0	0	--	--		0	C			MET_uc010lkh.2_Missense_Mutation_p.F346L|MET_uc011knc.1_Missense_Mutation_p.F346L|MET_uc011knd.1_Missense_Mutation_p.F346L|MET_uc011kne.1_Missense_Mutation_p.F346L|MET_uc011knf.1_Missense_Mutation_p.F346L|MET_uc011kng.1_Missense_Mutation_p.F346L|MET_uc011knh.1_Missense_Mutation_p.F346L|MET_uc011kni.1_Missense_Mutation_p.F346L|MET_uc003vii.1_Missense_Mutation_p.F365L|MET_uc010lkg.2_Missense_Mutation_p.F346L|MET_uc011kmz.1_Missense_Mutation_p.F346L|MET_uc011kna.1_Missense_Mutation_p.F346L|MET_uc011knb.1_Missense_Mutation_p.F346L	237	GBM-32-2495-TP	p.F346L	T	TTTCGGGGTGTTCGCACAAAG	NM_000245	NP_000236	116340174	P08581	MET_HUMAN	0	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		2	1223	+	C	C	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	Missense_Mutation	346			Extracellular (Potential).|Sema.			
METTL1	4234		GRCh37	12	58162873	58162873	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000324871.7:c.737G>A	p.Arg246His	p.R246H	ENST00000324871	NM_005371.5	246	cGt/cAt	0																																																																																																																																																																																																																																												
METTL12	0	broad.mit.edu	GRCh37	11	62434124	62434124	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-5418-01	TCGA-06-5418-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000532971.1:c.324T>C	p.Phe108=	p.F108=	ENST00000532971	NM_001043229.1	108	ttT/ttC	0			1			C	F	uc001nug.1	protein_coding	YES	CCDS41657.1			324/723										0	c.(322-324)TTT>TTC			hmmpanther:PTHR12176,hmmpanther:PTHR12176:SF15,Pfam_domain:PF13847,Gene3D:3.40.50.150,Superfamily_domains:SSF53335	methyltransferase like 12 precursor				ENSP00000431287		3-Mar									COSM2153325	3-Mar	.		ENST00000532971	Transcript				mitochondrion	methyltransferase activity	ENSG00000214756	g.chr11:62434124T>C	33113			LOW								--	--	1																																		C11orf48_uc001nue.2_Intron|C11orf48_uc001nuf.2_Intron|METTL12_uc001nuh.2_Missense_Mutation_p.F150S|METTL12_uc010rmc.1_RNA	1	1			p.F108F	NM_001043229	NP_001036694			1	MET12_HUMAN	METTL12	HGNC	A8MUP2	MTL12_HUMAN					3	583	+			UPI0000D4EAB2	108					SNV	METTL12,synonymous_variant,p.=,ENST00000532971,NM_001043229.1;C11orf48,intron_variant,,ENST00000431002,;C11orf48,intron_variant,,ENST00000532208,;C11orf48,intron_variant,,ENST00000354588,NM_024099.3;C11orf48,intron_variant,,ENST00000415855,;C11orf83,upstream_gene_variant,,ENST00000531323,;C11orf48,downstream_gene_variant,,ENST00000526490,;C11orf48,upstream_gene_variant,,ENST00000524958,NM_001286086.1;RP11-831H9.11,upstream_gene_variant,,ENST00000528405,;C11orf48,downstream_gene_variant,,ENST00000377954,;C11orf48,upstream_gene_variant,,ENST00000525675,;C11orf48,downstream_gene_variant,,ENST00000528862,;C11orf48,downstream_gene_variant,,ENST00000528115,;SNORA57,downstream_gene_variant,,ENST00000383870,NR_004390.1;METTL12,non_coding_transcript_exon_variant,,ENST00000398922,;METTL12,downstream_gene_variant,,ENST00000594728,;METTL12,non_coding_transcript_exon_variant,,ENST00000529868,;C11orf48,downstream_gene_variant,,ENST00000527679,;C11orf48,upstream_gene_variant,,ENST00000532786,;C11orf48,downstream_gene_variant,,ENST00000524759,;	uc001nug.1	c.324T>C	581/2037	3	3			c.324T>C						11	SNP	c.(322-324)TTT>TTC	56	56				0	Broad	methyltransferase like 12 precursor			62434124		0.592	ENSG00000214756	9321	g.chr11:62434124T>C		mitochondrion	methyltransferase activity							146.861888	KEEP	30	19	-1	50	48	30	19	-1	149.621909	50	48	0.34375	1	0	0	0	0	0	0	1	0	--	--		0	C			C11orf48_uc001nue.2_Intron|C11orf48_uc001nuf.2_Intron|METTL12_uc001nuh.2_Missense_Mutation_p.F150S|METTL12_uc010rmc.1_RNA	100	GBM-06-5418-TP	p.F108F	T	GGGTGGACTTTTCTCCTGTGG	NM_001043229	NP_001036694	62434124	A8MUP2	MTL12_HUMAN	0			3	583	+	C	C			Silent	108						
METTL13	0	broad.mit.edu	GRCh37	1	171765699	171765699	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6191-01	TCGA-76-6191-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361735.3:c.1903C>A	p.Pro635Thr	p.P635T	ENST00000361735	NM_015935.4	635	Ccc/Acc	0			1			A	P/T	uc001ghz.2	protein_coding	YES	CCDS1299.1			1903/2100									kidney(1)	1	c.(1903-1905)CCC>ACC			Gene3D:3.40.50.150,hmmpanther:PTHR12176,hmmpanther:PTHR12176:SF13,Superfamily_domains:SSF53335	CGI-01 protein isoform 1				ENSP00000354920		8-Aug										8-Aug	.		ENST00000361735	Transcript					methyltransferase activity|protein binding	ENSG00000010165	g.chr1:171765699C>A	24248			MODERATE		2.085	medium	getma.org/?cm=msa&ty=f&p=MET13_HUMAN&rb=601&re=699&var=P635T	NA	getma.org/?cm=var&var=hg19,1,171765699,C,A&fts=all	P635T	--	--	1																																		METTL13_uc001gia.2_Missense_Mutation_p.P549T|METTL13_uc001gib.2_Missense_Mutation_p.P479T|METTL13_uc010pml.1_Missense_Mutation_p.P634T|METTL13_uc001gic.1_RNA		1		benign(0.133)	p.P635T	NM_015935	NP_057019		tolerated(0.06)		MET13_HUMAN	METTL13	HGNC	Q8N6R0	MTL13_HUMAN			C4B4C6_HUMAN		8	2250	+			UPI000006DE3D	635					SNV	METTL13,missense_variant,p.Pro635Thr,ENST00000361735,NM_015935.4;METTL13,missense_variant,p.Pro549Thr,ENST00000362019,NM_014955.2;METTL13,missense_variant,p.Pro479Thr,ENST00000367737,NM_001007239.1;METTL13,missense_variant,p.Pro634Thr,ENST00000458517,;METTL13,non_coding_transcript_exon_variant,,ENST00000466643,;METTL13,intron_variant,,ENST00000476386,;	uc001ghz.2	c.1903C>A	2169/3327	1	1			c.1903C>A						1	SNP	c.(1903-1905)CCC>ACC	64	64			kidney(1)	1	Broad	CGI-01 protein isoform 1			171765699		0.498	ENSG00000010165	9322	g.chr1:171765699C>A			methyltransferase activity|protein binding							115.507822	KEEP	22	26	0.541666667	29	52	22	26	0.541666667	116.796048	29	52	0.387931	1	0	0	0	0	1	0	0	0	--	--		0	A			METTL13_uc001gia.2_Missense_Mutation_p.P549T|METTL13_uc001gib.2_Missense_Mutation_p.P479T|METTL13_uc010pml.1_Missense_Mutation_p.P634T|METTL13_uc001gic.1_RNA	274	GBM-76-6191-TP	p.P635T	C	GGCAGTGTTCCCCCTCCTATA	NM_015935	NP_057019	171765699	Q8N6R0	MTL13_HUMAN	0			8	2250	+	A	A			Missense_Mutation	635						
METTL17	64745	broad.mit.edu	GRCh37	14	21458199	21458199	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0209-01	TCGA-06-0209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382985.4:c.38G>C	p.Arg13Thr	p.R13T	ENST00000382985		13	aGa/aCa	0			1			C	R/T	uc001vyn.2	protein_coding		CCDS9562.1			38/1371										0	c.(37-39)AGA>ACA			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR21320:SF2,hmmpanther:PTHR21320	methyltransferase 11 domain containing 1 isoform				ENSP00000343041		14-Jan									COSM3401210,COSM3401209	14-Jan	.		ENST00000339374	Transcript			translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	ENSG00000165792	g.chr14:21458199G>C	19280			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=MET17_HUMAN&rb=1&re=151&var=R13T	NA	getma.org/?cm=var&var=hg19,14,21458199,G,C&fts=all	R13T	--	--	1																																		METT11D1_uc010tlk.1_Missense_Mutation_p.R13T|METT11D1_uc001vym.2_Missense_Mutation_p.R13T|METT11D1_uc001vyo.2_Missense_Mutation_p.R13T|METT11D1_uc001vyp.2_5'UTR|METT11D1_uc001vyq.2_5'UTR	1,1			benign(0.146)	p.R13T	NM_022734	NP_073571		deleterious_low_confidence(0.01)	1,1	MET17_HUMAN	METTL17	HGNC	Q9H7H0	MET17_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0191)	G3V4P2_HUMAN,G3V3X6_HUMAN,G3V353_HUMAN		1	235	+	all_cancers(95;0.00267)		UPI000006D5AD	13					SNV	METTL17,missense_variant,p.Arg13Thr,ENST00000339374,NM_001029991.1,NM_022734.2;METTL17,missense_variant,p.Arg13Thr,ENST00000382985,;METTL17,missense_variant,p.Arg13Thr,ENST00000556670,;METTL17,5_prime_UTR_variant,,ENST00000553564,;METTL17,5_prime_UTR_variant,,ENST00000554283,;METTL17,5_prime_UTR_variant,,ENST00000554751,;METTL17,upstream_gene_variant,,ENST00000555670,;METTL17,non_coding_transcript_exon_variant,,ENST00000555177,;METTL17,upstream_gene_variant,,ENST00000554354,;METTL17,missense_variant,p.Arg13Thr,ENST00000555640,;METTL17,missense_variant,p.Arg13Thr,ENST00000555533,;METTL17,missense_variant,p.Arg13Thr,ENST00000557550,;METTL17,non_coding_transcript_exon_variant,,ENST00000554588,;METTL17,non_coding_transcript_exon_variant,,ENST00000553441,;METTL17,non_coding_transcript_exon_variant,,ENST00000554985,;METTL17,non_coding_transcript_exon_variant,,ENST00000556442,;METTL17,non_coding_transcript_exon_variant,,ENST00000554949,;METTL17,non_coding_transcript_exon_variant,,ENST00000557701,;METTL17,upstream_gene_variant,,ENST00000553389,;METTL17,upstream_gene_variant,,ENST00000555902,;METTL17,upstream_gene_variant,,ENST00000553536,;METTL17,upstream_gene_variant,,ENST00000557279,;METTL17,upstream_gene_variant,,ENST00000555390,;RP11-84C10.1,upstream_gene_variant,,ENST00000556341,;	uc001vyn.2	c.38G>C	271/1744	3	3			c.38G>C						14	SNP	c.(37-39)AGA>ACA	64	64				0	Broad	methyltransferase 11 domain containing 1 isoform			21458199		0.617	ENSG00000165792	9316	g.chr14:21458199G>C	translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity							66.011041	KEEP	13	15	-1	48	55	13	15	-1	71.541689	48	55	0.241758	1	0	0	0	0	1	0	0	0	--	--		0	C			METT11D1_uc010tlk.1_Missense_Mutation_p.R13T|METT11D1_uc001vym.2_Missense_Mutation_p.R13T|METT11D1_uc001vyo.2_Missense_Mutation_p.R13T|METT11D1_uc001vyp.2_5'UTR|METT11D1_uc001vyq.2_5'UTR	46	GBM-06-0209-TP	p.R13T	G	ACATTAGGAAGATGGTGCCCC	NM_022734	NP_073571	21458199	Q9H7H0	MET17_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0191)	1	235	+	C	C	all_cancers(95;0.00267)		Missense_Mutation	13						
METTL17	64745	broad.mit.edu	GRCh37	14	21458453	21458453	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0209-01	TCGA-06-0209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382985.4:c.140G>C	p.Arg47Thr	p.R47T	ENST00000382985		47	aGg/aCg	0			1			C	R/T	uc001vyn.2	protein_coding		CCDS9562.1			140/1371										0	c.(139-141)AGG>ACG			hmmpanther:PTHR21320:SF2,hmmpanther:PTHR21320	methyltransferase 11 domain containing 1 isoform				ENSP00000343041		14-Feb									COSM3401212,COSM3401211	14-Feb	.		ENST00000339374	Transcript			translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	ENSG00000165792	g.chr14:21458453G>C	19280			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=MET17_HUMAN&rb=1&re=151&var=R47T	NA	getma.org/?cm=var&var=hg19,14,21458453,G,C&fts=all	R47T	--	--	1																																OREG0022561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	METT11D1_uc010tlk.1_Missense_Mutation_p.R47T|METT11D1_uc001vym.2_Missense_Mutation_p.R47T|METT11D1_uc001vyo.2_Missense_Mutation_p.R47T|METT11D1_uc001vyp.2_5'UTR|METT11D1_uc001vyq.2_5'UTR	1,1			benign(0.001)	p.R47T	NM_022734	NP_073571		tolerated(0.41)	1,1	MET17_HUMAN	METTL17	HGNC	Q9H7H0	MET17_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0191)	G3V4P2_HUMAN,G3V3X6_HUMAN,G3V353_HUMAN		2	337	+	all_cancers(95;0.00267)		UPI000006D5AD	47					SNV	METTL17,missense_variant,p.Arg47Thr,ENST00000339374,NM_001029991.1,NM_022734.2;METTL17,missense_variant,p.Arg47Thr,ENST00000382985,;METTL17,missense_variant,p.Arg47Thr,ENST00000556670,;METTL17,missense_variant,p.Arg85Thr,ENST00000554283,;METTL17,5_prime_UTR_variant,,ENST00000553564,;METTL17,5_prime_UTR_variant,,ENST00000555670,;METTL17,intron_variant,,ENST00000554751,;METTL17,non_coding_transcript_exon_variant,,ENST00000555177,;METTL17,upstream_gene_variant,,ENST00000554354,;METTL17,missense_variant,p.Arg47Thr,ENST00000555640,;METTL17,missense_variant,p.Arg47Thr,ENST00000555533,;METTL17,missense_variant,p.Arg47Thr,ENST00000557550,;METTL17,non_coding_transcript_exon_variant,,ENST00000554588,;METTL17,non_coding_transcript_exon_variant,,ENST00000553536,;METTL17,non_coding_transcript_exon_variant,,ENST00000553441,;METTL17,non_coding_transcript_exon_variant,,ENST00000554985,;METTL17,non_coding_transcript_exon_variant,,ENST00000556442,;METTL17,non_coding_transcript_exon_variant,,ENST00000554949,;METTL17,non_coding_transcript_exon_variant,,ENST00000557701,;METTL17,upstream_gene_variant,,ENST00000553389,;METTL17,upstream_gene_variant,,ENST00000554849,;METTL17,upstream_gene_variant,,ENST00000555902,;METTL17,upstream_gene_variant,,ENST00000557279,;METTL17,upstream_gene_variant,,ENST00000555390,;	uc001vyn.2	c.140G>C	373/1744	3	3			c.140G>C						14	SNP	c.(139-141)AGG>ACG	64	64				0	Broad	methyltransferase 11 domain containing 1 isoform			21458453		0.587	ENSG00000165792	9316	g.chr14:21458453G>C	translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity							85.328556	KEEP	19	24	-1	87	96	19	24	-1	105.207867	87	96	0.188073	1	0	0	0	0	1	0	0	0	--	--		0	C	OREG0022561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	METT11D1_uc010tlk.1_Missense_Mutation_p.R47T|METT11D1_uc001vym.2_Missense_Mutation_p.R47T|METT11D1_uc001vyo.2_Missense_Mutation_p.R47T|METT11D1_uc001vyp.2_5'UTR|METT11D1_uc001vyq.2_5'UTR	46	GBM-06-0209-TP	p.R47T	G	CTGCAGAAGAGGCCTCATCGC	NM_022734	NP_073571	21458453	Q9H7H0	MET17_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0191)	2	337	+	C	C	all_cancers(95;0.00267)		Missense_Mutation	47						
METTL21C	0	broad.mit.edu	GRCh37	13	103343256	103343256	+	synonymous_variant	Silent	SNP	G	G	A	rs140891650		TCGA-14-0790-01	TCGA-14-0790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267273.6:c.189C>T	p.Tyr63=	p.Y63=	ENST00000267273	NM_001010977.2	63	taC/taT	0	A:0		1			A	Y	uc001vpj.2	protein_coding	YES	CCDS32003.1			189/795										0	c.(187-189)TAC>TAT			hmmpanther:PTHR14614:SF13,hmmpanther:PTHR14614	hypothetical protein LOC196541			A:0.0001	ENSP00000267273		4-Feb	2.47E-05		0.000173			1.50E-05			rs140891650,COSM3399220	4-Feb	.		ENST00000267273	Transcript					methyltransferase activity	ENSG00000139780	g.chr13:103343256G>A	33717			LOW								--	--	1																																		C13orf39_uc001vpk.2_Silent_p.Y63Y	0,1	1			p.Y63Y	NM_001010977	NP_001010977			0,1	MT21C_HUMAN	METTL21C	HGNC	Q5VZV1	MT21C_HUMAN					2	195	-			UPI000016196F	63					SNV	METTL21C,synonymous_variant,p.=,ENST00000267273,NM_001010977.2;	uc001vpj.2	c.189C>T	195/1088	2	2			c.189C>T						13	SNP	c.(187-189)TAC>TAT	47	47				0	Broad	hypothetical protein LOC196541			103343256		0.443	ENSG00000139780	1695	g.chr13:103343256G>A			methyltransferase activity							330.114595	KEEP	50	65	-1	72	66	50	65	-1	330.255099	72	66	0.473214	1	0	0	0	0	0	0	1	0	--	--		0	A			C13orf39_uc001vpk.2_Silent_p.Y63Y	137	GBM-14-0790-TP	p.Y63Y	G	TGTAGCTGGCGTAATCTGTAG	NM_001010977	NP_001010977	103343256	Q5VZV1	MT21C_HUMAN	0			2	195	-	A	A			Silent	63						
METTL5	29081		GRCh37	2	170677785	170677785	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000260953.5:c.225-2A>G		p.X75_splice	ENST00000260953	NM_014168.2	75		0																																																																																																																																																																																																																																												
METTL7A	0	broad.mit.edu	GRCh37	12	51319018	51319018	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01	TCGA-27-2523-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332160.4:c.197C>T	p.Ala66Val	p.A66V	ENST00000332160	NM_014033.3	66	gCg/gTg	0			1			T	A/V	uc001rxb.2	protein_coding		CCDS8804.1			197/735										0	c.(196-198)GCG>GTG			hmmpanther:PTHR10108,hmmpanther:PTHR10108:SF734,Gene3D:3.40.50.150,Superfamily_domains:SSF53335	methyltransferase like 7A precursor				ENSP00000331787		2-Jan									COSM548690	2-Jan	.		ENST00000332160	Transcript				endoplasmic reticulum|lipid particle|membrane	methyltransferase activity	ENSG00000185432	g.chr12:51319018C>T	24550			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=MET7A_HUMAN&rb=1&re=74&var=A66V	NA	getma.org/?cm=var&var=hg19,12,51319018,C,T&fts=all	A66V	--	--	1																																		METTL7A_uc010smv.1_Missense_Mutation_p.A66V	1			benign(0.002)	p.A66V	NM_014033	NP_054752		tolerated(0.15)	1	MET7A_HUMAN	METTL7A	HGNC	Q9H8H3	MET7A_HUMAN			F8VQX6_HUMAN		1	485	+			UPI000003B00C	66					SNV	METTL7A,missense_variant,p.Ala66Val,ENST00000548553,;METTL7A,missense_variant,p.Ala66Val,ENST00000332160,NM_014033.3;METTL7A,missense_variant,p.Ala66Val,ENST00000550502,;METTL7A,missense_variant,p.Ala66Val,ENST00000546513,;METTL7A,missense_variant,p.Ala66Val,ENST00000550097,;METTL7A,missense_variant,p.Ala66Val,ENST00000547104,;	uc001rxb.2	c.197C>T	485/3390	1	1			c.197C>T						12	SNP	c.(196-198)GCG>GTG	16	16				0	Broad	methyltransferase like 7A precursor			51319018		0.552	ENSG00000185432	9330	g.chr12:51319018C>T		endoplasmic reticulum|lipid particle|membrane	methyltransferase activity							-14.477669	KEEP	2	2	-1	47	52	2	2	-1	7.196803	47	52	0.041667	1	0	0	0	0	1	0	0	0	--	--		0	T			METTL7A_uc010smv.1_Missense_Mutation_p.A66V	201	GBM-27-2523-TP	p.A66V	C	CAGGAGTTTGCGGGCCCCTCC	NM_014033	NP_054752	51319018	Q9H8H3	MET7A_HUMAN	0			1	485	+	T	T			Missense_Mutation	66						
MFAP1	0	broad.mit.edu	GRCh37	15	44105497	44105497	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-1982-01	TCGA-32-1982-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267812.3:c.676G>C	p.Glu226Gln	p.E226Q	ENST00000267812	NM_005926.2	226	Gag/Cag	0			1			G	E/Q	uc001zth.1	protein_coding	YES	CCDS10105.1			676/1320									skin(1)	1	c.(676-678)GAG>CAG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15327,hmmpanther:PTHR15327:SF0,Pfam_domain:PF06991	microfibrillar-associated protein 1				ENSP00000267812		9-May									COSM3401755	9-May	.		ENST00000267812	Transcript				microfibril		ENSG00000140259	g.chr15:44105497C>G	7032			MODERATE		2.5	medium	getma.org/?cm=msa&ty=f&p=MFAP1_HUMAN&rb=163&re=436&var=E226Q	NA	getma.org/?cm=var&var=hg19,15,44105497,C,G&fts=all	E226Q	--	--	1																																			1	1		possibly_damaging(0.656)	p.E226Q	NM_005926	NP_005917		deleterious(0.05)	1	MFAP1_HUMAN	MFAP1	HGNC	P55081	MFAP1_HUMAN		GBM - Glioblastoma multiforme(94;4.33e-07)			5	860	-		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	UPI000013D770	226					SNV	MFAP1,missense_variant,p.Glu226Gln,ENST00000267812,NM_005926.2;MFAP1,upstream_gene_variant,,ENST00000484386,;	uc001zth.1	c.676G>C	909/2155	3	3			c.676G>C						15	SNP	c.(676-678)GAG>CAG	64	64			skin(1)	1	Broad	microfibrillar-associated protein 1			44105497		0.483	ENSG00000140259	9338	g.chr15:44105497C>G		microfibril								274.926147	KEEP	48	55	-1	157	150	48	55	-1	294.758883	157	150	0.253482	1	0	0	0	0	1	0	0	0	--	--		0	G				232	GBM-32-1982-TP	p.E226Q	C	GCTTCCTGCTCCAGCTCCTTC	NM_005926	NP_005917	44105497	P55081	MFAP1_HUMAN	0		GBM - Glioblastoma multiforme(94;4.33e-07)	5	860	-	G	G		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	Missense_Mutation	226						
MFAP1	4236		GRCh37	15	44106722	44106722	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000267812.3:c.594C>A	p.Arg198=	p.R198=	ENST00000267812	NM_005926.2	198	cgC/cgA	0																																																																																																																																																																																																																																												
MFAP3	4238	broad.mit.edu	GRCh37	5	153432941	153432941	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5412-01	TCGA-06-5412-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000436816.1:c.757G>A	p.Glu253Lys	p.E253K	ENST00000436816	NM_005927.4	253	Gag/Aag	0			1			A	E/K	uc003lvf.2	protein_coding		CCDS4324.1			757/1089										0	c.(757-759)GAG>AAG			hmmpanther:PTHR14340,hmmpanther:PTHR14340:SF3	microfibrillar-associated protein 3 isoform 2				ENSP00000322956		3-Mar									COSM3410024	3-Mar	.		ENST00000322602	Transcript				integral to membrane|plasma membrane		ENSG00000037749	g.chr5:153432941G>A	7034			MODERATE		1.975	medium	getma.org/?cm=msa&ty=f&p=MFAP3_HUMAN&rb=146&re=361&var=E253K	NA	getma.org/?cm=var&var=hg19,5,153432941,G,A&fts=all	E253K	--	--	1																																		MFAP3_uc010jib.2_Missense_Mutation_p.E253K|MFAP3_uc011ddb.1_Missense_Mutation_p.E107K	1			probably_damaging(0.91)	p.E253K	NM_001135037	NP_001128509		deleterious(0)	1	MFAP3_HUMAN	MFAP3	HGNC	P55082	MFAP3_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)	E5RJ59_HUMAN,E5RHQ6_HUMAN		3	1273	+	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	UPI00000012A1	253			Cytoplasmic (Potential).		SNV	MFAP3,missense_variant,p.Glu253Lys,ENST00000436816,NM_005927.4,NM_001242336.1;MFAP3,missense_variant,p.Glu253Lys,ENST00000322602,;MFAP3,missense_variant,p.Glu107Lys,ENST00000439768,NM_001135037.1;MFAP3,downstream_gene_variant,,ENST00000522782,;MFAP3,downstream_gene_variant,,ENST00000522177,;MFAP3,downstream_gene_variant,,ENST00000520899,;MFAP3,intron_variant,,ENST00000521527,;MFAP3,intron_variant,,ENST00000520327,;MFAP3,downstream_gene_variant,,ENST00000519928,;	uc003lvf.2	c.757G>A	1239/2891	2	2			c.757G>A						5	SNP	c.(757-759)GAG>AAG	43	43				0	Broad	microfibrillar-associated protein 3 isoform 2			153432941		0.453	ENSG00000037749	9340	g.chr5:153432941G>A		integral to membrane|plasma membrane								-0.239754	KEEP	0	5	-1	30	17	0	5	-1	8.495405	30	17	0.081633	1	0	0	0	0	1	0	0	0	--	--		0	A			MFAP3_uc010jib.2_Missense_Mutation_p.E253K|MFAP3_uc011ddb.1_Missense_Mutation_p.E107K	95	GBM-06-5412-TP	p.E253K	G	AGCCTTTGTTGAGGAGATGTT	NM_001135037	NP_001128509	153432941	P55082	MFAP3_HUMAN	0	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)	3	1273	+	A	A	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Missense_Mutation	253			Cytoplasmic (Potential).			
MFAP3L	0	broad.mit.edu	GRCh37	4	170926952	170926952	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2629-01	TCGA-19-2629-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361618.3:c.77C>T	p.Ala26Val	p.A26V	ENST00000361618	NM_021647.6	26	gCc/gTc	0			1			A	A/V	uc003isp.3	protein_coding	YES	CCDS34103.1			77/1230									ovary(1)	1	c.(76-78)GCC>GTC			hmmpanther:PTHR14340,hmmpanther:PTHR14340:SF2,Cleavage_site_(Signalp):SignalP-noTM	microfibrillar-associated protein 3-like isoform				ENSP00000354583		3-Feb									COSM2156273	3-Feb	.		ENST00000361618	Transcript				integral to membrane|plasma membrane		ENSG00000198948	g.chr4:170926952G>A	29083			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=MFA3L_HUMAN&rb=1&re=46&var=A26V	NA	getma.org/?cm=var&var=hg19,4,170926952,G,A&fts=all	A26V	--	--	1																																		MFAP3L_uc003isn.3_5'Flank	1	1		benign(0.002)	p.A26V	NM_021647	NP_067679		tolerated(0.06)	1	MFA3L_HUMAN	MFAP3L	HGNC	O75121	MFA3L_HUMAN		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)	D6RGZ8_HUMAN,D6RDM6_HUMAN,D6RCF0_HUMAN,D6RCC0_HUMAN,D6RAB5_HUMAN,D6R9L7_HUMAN		2	255	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	UPI0000073AA1	26					SNV	MFAP3L,missense_variant,p.Ala26Val,ENST00000361618,NM_021647.6;MFAP3L,missense_variant,p.Ala26Val,ENST00000393702,;MFAP3L,missense_variant,p.Ala26Val,ENST00000510306,;MFAP3L,missense_variant,p.Ala26Val,ENST00000504999,;MFAP3L,missense_variant,p.Ala26Val,ENST00000506110,;MFAP3L,missense_variant,p.Ala26Val,ENST00000506764,;MFAP3L,intron_variant,,ENST00000512698,;MFAP3L,intron_variant,,ENST00000507601,;MFAP3L,upstream_gene_variant,,ENST00000393704,NM_001009554.2;MFAP3L,upstream_gene_variant,,ENST00000502832,;	uc003isp.3	c.77C>T	385/6318	2	2			c.77C>T						4	SNP	c.(76-78)GCC>GTC	18	18			ovary(1)	1	Broad	microfibrillar-associated protein 3-like isoform			170926952		0.458	ENSG00000198948	9341	g.chr4:170926952G>A		integral to membrane|plasma membrane								117.396966	KEEP	24	24	-1	19	19	24	24	-1	117.56003	19	19	0.552239	1	0	0	0	0	1	0	0	0	--	--		0	A			MFAP3L_uc003isn.3_5'Flank	166	GBM-19-2629-TP	p.A26V	G	CTTAGCGGTGGCTAGAGTGGA	NM_021647	NP_067679	170926952	O75121	MFA3L_HUMAN	0		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)	2	255	-	A	A		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	Missense_Mutation	26						
MFAP5	0	broad.mit.edu	GRCh37	12	8813465	8813465	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-6700-01	TCGA-06-6700-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359478.2:c.88C>T	p.Arg30Ter	p.R30*	ENST00000359478	NM_003480.2	30	Cga/Tga	0			1			A	R/*	uc001qut.1	protein_coding	YES	CCDS8595.1			88/522									breast(1)	1	c.(88-90)CGA>TGA			Pfam_domain:PF05507,hmmpanther:PTHR16485:SF5,hmmpanther:PTHR16485	microfibrillar associated protein 5 precursor				ENSP00000352455		10-Mar									COSM3399163	10-Mar	.		ENST00000359478	Transcript	1			microfibril	extracellular matrix structural constituent	ENSG00000197614	g.chr12:8813465G>A	29673			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,12,8813465,G,A&fts=all	R30*	--	--	1																																		MFAP5_uc001qus.2_Nonsense_Mutation_p.R30*|MFAP5_uc009zge.1_Nonsense_Mutation_p.R30*	1	1			p.R30*	NM_003480	NP_003471			1	MFAP5_HUMAN	MFAP5	HGNC	Q13361	MFAP5_HUMAN			H0YGS3_HUMAN,F5H1C0_HUMAN		3	301	-	Lung SC(5;0.184)		UPI000012F034	30			Cell attachment site (Potential).		SNV	MFAP5,stop_gained,p.Arg30Ter,ENST00000359478,NM_003480.2;MFAP5,stop_gained,p.Arg30Ter,ENST00000433590,;MFAP5,stop_gained,p.Arg30Ter,ENST00000396549,;MFAP5,stop_gained,p.Arg20Ter,ENST00000535411,;MFAP5,stop_gained,p.Arg30Ter,ENST00000544889,;MFAP5,stop_gained,p.Arg30Ter,ENST00000535336,;MFAP5,stop_gained,p.Arg30Ter,ENST00000540087,;MFAP5,intron_variant,,ENST00000543369,;RP11-20D14.3,upstream_gene_variant,,ENST00000544922,;RP11-20D14.3,upstream_gene_variant,,ENST00000539089,;MFAP5,non_coding_transcript_exon_variant,,ENST00000538107,;MFAP5,upstream_gene_variant,,ENST00000538694,;MFAP5,stop_gained,p.Arg30Ter,ENST00000544211,;MFAP5,stop_gained,p.Arg30Ter,ENST00000537009,;MFAP5,non_coding_transcript_exon_variant,,ENST00000537128,;MFAP5,non_coding_transcript_exon_variant,,ENST00000534833,;	uc001qut.1	c.88C>T	276/2845	5	1			c.88C>T						12	SNP	c.(88-90)CGA>TGA	60	60			breast(1)	1	Broad	microfibrillar associated protein 5 precursor			8813465		0.438	ENSG00000197614	9343	g.chr12:8813465G>A		microfibril	extracellular matrix structural constituent							42.743868	KEEP	12	8	-1	27	38	12	8	-1	46.606094	27	38	0.25	1	0	0	0	0	0	1	0	0	--	--		0	A			MFAP5_uc001qus.2_Nonsense_Mutation_p.R30*|MFAP5_uc009zge.1_Nonsense_Mutation_p.R30*	114	GBM-06-6700-TP	p.R30*	G	CTACCTCCTCGTTGACTATTG	NM_003480	NP_003471	8813465	Q13361	MFAP5_HUMAN	0			3	301	-	A	A	Lung SC(5;0.184)		Nonsense_Mutation	30			Cell attachment site (Potential).			
MFF	0	broad.mit.edu	GRCh37	2	228195421	228195421	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-19-5959-01	TCGA-19-5959-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000353339.3:c.118A>T	p.Thr40Ser	p.T40S	ENST00000353339	NM_001277061.1	40	Act/Tct	0			1			T	T/S	uc002vos.2	protein_coding	YES	CCDS2465.1			118/1029									large_intestine(1)	1	c.(118-120)ACT>TCT			Pfam_domain:PF05644,hmmpanther:PTHR16501	mitochondrial fission factor				ENSP00000302037		11-Apr									COSM3407634	11-Apr	.		ENST00000353339	Transcript				integral to membrane|mitochondrial outer membrane		ENSG00000168958	g.chr2:228195421A>T	24858			MODERATE		2.16	medium	getma.org/?cm=msa&ty=f&p=MFF_HUMAN&rb=27&re=342&var=T40S	NA	getma.org/?cm=var&var=hg19,2,228195421,A,T&fts=all	T40S	--	--	1																																		MFF_uc002vot.2_Missense_Mutation_p.T14S|MFF_uc002vou.2_Missense_Mutation_p.T40S|MFF_uc002vov.2_Missense_Mutation_p.T14S|MFF_uc002vow.2_Missense_Mutation_p.T14S|MFF_uc002vox.2_Missense_Mutation_p.T14S|MFF_uc002voy.2_Missense_Mutation_p.T40S|MFF_uc002voz.2_Missense_Mutation_p.T14S	1	1		probably_damaging(0.99)	p.T40S	NM_020194	NP_064579		deleterious(0.01)	1	MFF_HUMAN	MFF	HGNC	Q9GZY8	MFF_HUMAN			E9PPR7_HUMAN,E9PK16_HUMAN,C9JU19_HUMAN,C9JI76_HUMAN,C9JHF5_HUMAN,C9JAF1_HUMAN,C9J846_HUMAN		4	536	+			UPI0000072C36	40			Cytoplasmic (Potential).		SNV	MFF,missense_variant,p.Thr40Ser,ENST00000353339,NM_001277061.1;MFF,missense_variant,p.Thr40Ser,ENST00000392059,NM_020194.5;MFF,missense_variant,p.Thr14Ser,ENST00000304593,NM_001277062.1;MFF,missense_variant,p.Thr14Ser,ENST00000337110,NM_001277063.1;MFF,missense_variant,p.Thr14Ser,ENST00000349901,NM_001277064.1;MFF,missense_variant,p.Thr14Ser,ENST00000409565,NM_001277066.1;MFF,missense_variant,p.Thr14Ser,ENST00000409616,;MFF,missense_variant,p.Thr14Ser,ENST00000354503,NM_001277065.1;MFF,missense_variant,p.Thr14Ser,ENST00000452930,;MFF,missense_variant,p.Thr14Ser,ENST00000418961,;MFF,missense_variant,p.Thr14Ser,ENST00000423098,;MFF,missense_variant,p.Thr40Ser,ENST00000443428,;MFF,missense_variant,p.Thr14Ser,ENST00000525195,;MFF,intron_variant,,ENST00000524634,;MFF,intron_variant,,ENST00000531278,;MFF,intron_variant,,ENST00000534203,;MFF,intron_variant,,ENST00000530359,;MFF,downstream_gene_variant,,ENST00000436237,;MFF,non_coding_transcript_exon_variant,,ENST00000436791,;MFF,intron_variant,,ENST00000476924,;MFF,non_coding_transcript_exon_variant,,ENST00000460756,;MFF,non_coding_transcript_exon_variant,,ENST00000489696,;MFF,intron_variant,,ENST00000470090,;	uc002vos.2	c.118A>T	559/2186	2	2			c.118A>T						2	SNP	c.(118-120)ACT>TCT	20	20			large_intestine(1)	1	Broad	mitochondrial fission factor			228195421		0.458	ENSG00000168958	9344	g.chr2:228195421A>T		integral to membrane|mitochondrial outer membrane								46.522097	KEEP	7	8	-1	12	10	7	8	-1	46.624276	12	10	0.441176	1	0	0	0	0	1	0	0	0	--	--		0	T			MFF_uc002vot.2_Missense_Mutation_p.T14S|MFF_uc002vou.2_Missense_Mutation_p.T40S|MFF_uc002vov.2_Missense_Mutation_p.T14S|MFF_uc002vow.2_Missense_Mutation_p.T14S|MFF_uc002vox.2_Missense_Mutation_p.T14S|MFF_uc002voy.2_Missense_Mutation_p.T40S|MFF_uc002voz.2_Missense_Mutation_p.T14S	177	GBM-19-5959-TP	p.T40S	A	AATGGAATATACTGAAGGCAT	NM_020194	NP_064579	228195421	Q9GZY8	MFF_HUMAN	0			4	536	+	T	T			Missense_Mutation	40			Cytoplasmic (Potential).			
MFI2	0	broad.mit.edu	GRCh37	3	196736682	196736682	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296350.5:c.1332G>A		p.X444_splice	ENST00000296350	NM_005929.5	444	ccG/ccA	0			1			T	P	uc003fxk.3	protein_coding	YES	CCDS3325.1			1332/2217										0	c.(1330-1332)CCG>CCA			Gene3D:3.40.190.10,Pfam_domain:PF00405,PIRSF_domain:PIRSF002549,PROSITE_profiles:PS51408,hmmpanther:PTHR11485,hmmpanther:PTHR11485:SF5,SMART_domains:SM00094,Superfamily_domains:SSF53850	melanoma-associated antigen p97 isoform 1				ENSP00000296350		16-Nov	3.30E-05					6.25E-05			rs774892741,COSM2149362	16-Nov	.		ENST00000296350	Transcript			cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	ENSG00000163975	g.chr3:196736682C>T	7037			LOW								--	--	1																																			0,1	1			p.P444P	NM_005929	NP_005920			0,1	TRFM_HUMAN	MFI2	HGNC	P08582	TRFM_HUMAN	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)			11	1445	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		UPI000013E329	444			Transferrin-like 2.		SNV	MFI2,splice_region_variant,p.=,ENST00000296350,NM_005929.5;	uc003fxk.3	c.1332G>A	1446/3963	2	2			c.1332G>A						3	SNP	c.(1330-1332)CCG>CCA	24	24				0	Broad	melanoma-associated antigen p97 isoform 1			196736682		0.632	ENSG00000163975	9347	g.chr3:196736682C>T	cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding							67.20194	KEEP	7	17	-1	26	23	7	17	-1	68.42756	26	23	0.353846	1	0	0	0	0	0	0	1	0	--	--		0	T				12	GBM-06-0125-TP	p.P444P	C	TGCTGTCTTCCGCTGGGGAGA	NM_005929	NP_005920	196736682	P08582	TRFM_HUMAN	0	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	11	1445	-	T	T	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Silent	444			Transferrin-like 2.			
MFN2	0	broad.mit.edu	GRCh37	1	12052619	12052619	+	stop_gained	Nonsense_Mutation	SNP	C	C	G			TCGA-32-4208-01	TCGA-32-4208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000235329.5:c.183C>G	p.Tyr61Ter	p.Y61*	ENST00000235329	NM_014874.3	61	taC/taG	0			1			G	Y/*	uc001atn.3	protein_coding	YES	CCDS30587.1			183/2274									ovary(1)	1	c.(181-183)TAC>TAG			hmmpanther:PTHR10465,hmmpanther:PTHR10465:SF1	mitofusin 2				ENSP00000235329		19-Apr									COSM3399615	19-Apr	.		ENST00000235329	Transcript	1		blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	ENSG00000116688	g.chr1:12052619C>G	16877			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,12052619,C,G&fts=all	Y61*	--	--	1																																		MFN2_uc009vni.2_Nonsense_Mutation_p.Y61*	1	1			p.Y61*	NM_014874	NP_055689			1	MFN2_HUMAN	MFN2	HGNC	O95140	MFN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	Q5JXC5_HUMAN		4	636	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	UPI0000039854	61			Cytoplasmic (Potential).		SNV	MFN2,stop_gained,p.Tyr61Ter,ENST00000235329,NM_014874.3;MFN2,stop_gained,p.Tyr61Ter,ENST00000444836,NM_001127660.1;MFN2,stop_gained,p.Tyr61Ter,ENST00000412236,;MFN2,non_coding_transcript_exon_variant,,ENST00000497302,;MFN2,downstream_gene_variant,,ENST00000490079,;MFN2,downstream_gene_variant,,ENST00000484391,;	uc001atn.3	c.183C>G	505/4539	5	3			c.183C>G						1	SNP	c.(181-183)TAC>TAG	15	15			ovary(1)	1	Broad	mitofusin 2			12052619		0.562	ENSG00000116688	9349	g.chr1:12052619C>G	blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding							-57.572362	KEEP	5	2	-1	111	161	5	2	-1	10.261264	111	161	0.019157	1	0	0	0	0	0	1	0	0	--	--		0	G			MFN2_uc009vni.2_Nonsense_Mutation_p.Y61*	243	GBM-32-4208-TP	p.Y61*	C	CAGACACGTACAGGAATGCAG	NM_014874	NP_055689	12052619	O95140	MFN2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	4	636	+	G	G	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	Nonsense_Mutation	61			Cytoplasmic (Potential).			
MFNG	0	broad.mit.edu	GRCh37	22	37882098	37882098	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4931-01	TCGA-76-4931-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356998.3:c.118G>A	p.Glu40Lys	p.E40K	ENST00000356998	NM_002405.3	40	Gag/Aag	0			1			T	E/K	uc003ass.1	protein_coding	YES	CCDS13947.1			118/966									lung(1)	1	c.(118-120)GAG>AAG			hmmpanther:PTHR10811,hmmpanther:PTHR10811:SF6,PIRSF_domain:PIRSF038073	O-fucosylpeptide				ENSP00000349490		8-Jan									COSM3405659	8-Jan	.		ENST00000356998	Transcript			pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	ENSG00000100060	g.chr22:37882098C>T	7038			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=MFNG_HUMAN&rb=10&re=78&var=E40K	NA	getma.org/?cm=var&var=hg19,22,37882098,C,T&fts=all	E40K	--	--	1																																		MFNG_uc011ani.1_5'UTR|MFNG_uc011anj.1_Missense_Mutation_p.E40K|CARD10_uc003ast.1_Intron	1	1		benign(0.004)	p.E40K	NM_002405	NP_002396		tolerated(0.5)	1	MFNG_HUMAN	MFNG	HGNC	O00587	MFNG_HUMAN			B4DNA5_HUMAN,A9UJQ1_HUMAN,A9UJQ0_HUMAN		1	288	-	Melanoma(58;0.0574)		UPI000012F045	40			Lumenal (Potential).		SNV	MFNG,missense_variant,p.Glu40Lys,ENST00000356998,NM_002405.3;MFNG,missense_variant,p.Glu40Lys,ENST00000416983,NM_001166343.1;MFNG,missense_variant,p.Glu40Lys,ENST00000424765,;CARD10,downstream_gene_variant,,ENST00000403299,;CARD10,downstream_gene_variant,,ENST00000251973,NM_014550.3;CARD10,downstream_gene_variant,,ENST00000406271,;MFNG,upstream_gene_variant,,ENST00000436341,;MFNG,upstream_gene_variant,,ENST00000442496,;MFNG,missense_variant,p.Glu40Lys,ENST00000438891,;MFNG,missense_variant,p.Glu40Lys,ENST00000430411,;CARD10,downstream_gene_variant,,ENST00000488141,;CARD10,downstream_gene_variant,,ENST00000467812,;MFNG,upstream_gene_variant,,ENST00000466943,;	uc003ass.1	c.118G>A	342/2088	2	2			c.118G>A						22	SNP	c.(118-120)GAG>AAG	36	36			lung(1)	1	Broad	O-fucosylpeptide			37882098		0.657	ENSG00000100060	9350	g.chr22:37882098C>T	pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity							86.251341	KEEP	18	18	-1	15	22	18	18	-1	86.252415	15	22	0.491525	1	0	0	0	0	1	0	0	0	--	--		0	T			MFNG_uc011ani.1_5'UTR|MFNG_uc011anj.1_Missense_Mutation_p.E40K|CARD10_uc003ast.1_Intron	270	GBM-76-4931-TP	p.E40K	C	TGGCTCAGCTCGGGGGTCCCT	NM_002405	NP_002396	37882098	O00587	MFNG_HUMAN	0			1	288	-	T	T	Melanoma(58;0.0574)		Missense_Mutation	40			Lumenal (Potential).			
MFRP	83552	broad.mit.edu	GRCh37	11	119212361	119212361	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0128-01	TCGA-06-0128-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000530681.1:c.1637A>C	p.Glu546Ala	p.E546A	ENST00000530681		546	gAg/gCg	0			1			G	E/A	uc001pwj.2	protein_coding		CCDS8421.1			1637/1740										0	c.(1636-1638)GAG>GCG			Gene3D:1ijyA00,Pfam_domain:PF01392,PROSITE_profiles:PS50038,SMART_domains:SM00063,Superfamily_domains:SSF63501	membrane frizzled-related protein				ENSP00000391664		13/13	8.24E-06							6.06E-05	rs773902427,COSM2149467	13/13	.		ENST00000449574	Transcript	1			collagen		ENSG00000235718	g.chr11:119212361T>G	18121			MODERATE		1.745	low	getma.org/?cm=msa&ty=f&p=MFRP_HUMAN&rb=466&re=577&var=E546A	getma.org/pdb.php?prot=MFRP_HUMAN&from=466&to=577&var=E546A	getma.org/?cm=var&var=hg19,11,119212361,T,G&fts=all	E546A	--	--	1																																		MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.E428A	0,1			probably_damaging(1)	p.E546A	NM_031433	NP_113621		deleterious(0.02)	0,1	MFRP_HUMAN	MFRP	HGNC	Q9BXJ0	C1QT5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)			13	1797	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	UPI0000072615	Error:Variant_position_missing_in_Q9BXJ0_after_alignment					SNV	MFRP,missense_variant,p.Glu546Ala,ENST00000555262,;MFRP,missense_variant,p.Glu546Ala,ENST00000449574,;MFRP,missense_variant,p.Glu428Ala,ENST00000360167,;C1QTNF5,5_prime_UTR_variant,,ENST00000445041,NM_031433.3,NM_015645.4;RNF26,downstream_gene_variant,,ENST00000311413,NM_032015.4;C1QTNF5,upstream_gene_variant,,ENST00000528368,NM_001278431.1;RP11-334E6.10,upstream_gene_variant,,ENST00000501918,;C1QTNF5,upstream_gene_variant,,ENST00000525657,;MFRP,downstream_gene_variant,,ENST00000529147,;MFRP,missense_variant,p.Glu546Ala,ENST00000530681,;MFRP,downstream_gene_variant,,ENST00000526059,;	uc001pwj.2	c.1637A>C	1797/2280	3	3			c.1637A>C						11	SNP	c.(1636-1638)GAG>GCG	6	6				0	Broad	membrane frizzled-related protein			119212361		0.647	ENSG00000235718	9351	g.chr11:119212361T>G		collagen								59.036448	KEEP	11	10	-1	34	30	11	10	-1	63.289266	34	30	0.259259	1	0	0	0	0	1	0	0	0	--	--		0	G			MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.E428A	14	GBM-06-0128-TP	p.E546A	T	GCACTGGTGCTCCGCTTCCTG	NM_031433	NP_113621	119212361	Q9BXJ0	C1QT5_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)	13	1797	-	G	G		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	Missense_Mutation	Error:Variant_position_missing_in_Q9BXJ0_after_alignment						
MFRP	0	broad.mit.edu	GRCh37	11	119216274	119216274	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-12-5299-01	TCGA-12-5299-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449574.2:c.497C>G	p.Pro166Arg	p.P166R	ENST00000449574		166	cCc/cGc	0		A:0	1	A:0		C	P/R	uc001pwj.2	protein_coding		CCDS8421.1			497/1740										0	c.(496-498)CCC>CGC			Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,hmmpanther:PTHR10127,Low_complexity_(Seg):seg,SMART_domains:SM00042,Superfamily_domains:SSF49854	membrane frizzled-related protein		A:0		ENSP00000391664	A:0.001	13-May	4.12E-05		0.000347			1.51E-05			rs200251814,COSM3397471	13-May	.		ENST00000449574	Transcript	1	A:0.0002		collagen		ENSG00000235718	g.chr11:119216274G>C	18121			MODERATE		1.815	low	getma.org/?cm=msa&ty=f&p=MFRP_HUMAN&rb=144&re=250&var=P166R	getma.org/pdb.php?prot=MFRP_HUMAN&from=144&to=250&var=P166R	getma.org/?cm=var&var=hg19,11,119216274,G,C&fts=all	P166R	--	--	1																																		MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.P166R	0,1			probably_damaging(0.917)	p.P166R	NM_031433	NP_113621	A:0	deleterious(0)	0,1	MFRP_HUMAN	MFRP	HGNC	Q9BXJ0	C1QT5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)			5	657	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	UPI0000072615	117			C1q.		SNV	MFRP,missense_variant,p.Pro166Arg,ENST00000555262,;MFRP,missense_variant,p.Pro166Arg,ENST00000449574,;MFRP,missense_variant,p.Pro166Arg,ENST00000360167,;C1QTNF5,5_prime_UTR_variant,,ENST00000445041,NM_031433.3,NM_015645.4;C1QTNF5,upstream_gene_variant,,ENST00000528368,NM_001278431.1;MFRP,non_coding_transcript_exon_variant,,ENST00000529147,;C1QTNF5,upstream_gene_variant,,ENST00000525657,;MFRP,missense_variant,p.Pro166Arg,ENST00000530681,;MFRP,downstream_gene_variant,,ENST00000526059,;	uc001pwj.2	c.497C>G	657/2280	3	3			c.497C>G						11	SNP	c.(496-498)CCC>CGC	5	5				0	Broad	membrane frizzled-related protein			119216274		0.567	ENSG00000235718	9351	g.chr11:119216274G>C		collagen								146.103896	KEEP	25	31	-1	32	45	25	31	-1	146.870102	32	45	0.412281	1	0	0	0	0	1	0	0	0	--	--		0	C			MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.P166R	130	GBM-12-5299-TP	p.P166R	G	GTGGGTGTTGGGGGGGTAAGG	NM_031433	NP_113621	119216274	Q9BXJ0	C1QT5_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)	5	657	-	C	C		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	Missense_Mutation	117			C1q.			
MFRP	0	broad.mit.edu	GRCh37	11	119215663	119215663	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5951-01	TCGA-19-5951-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449574.2:c.693C>T	p.Leu231=	p.L231=	ENST00000449574		231	ctC/ctT	0			1			A	L	uc001pwj.2	protein_coding		CCDS8421.1			693/1740										0	c.(691-693)CTC>CTT			Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,hmmpanther:PTHR10127,SMART_domains:SM00042,Superfamily_domains:SSF49854	membrane frizzled-related protein				ENSP00000391664		13-Jun									COSM2156620	13-Jun	.		ENST00000449574	Transcript	1			collagen		ENSG00000235718	g.chr11:119215663G>A	18121			LOW								--	--	1																																		MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Silent_p.L231L	1				p.L231L	NM_031433	NP_113621			1	MFRP_HUMAN	MFRP	HGNC	Q9BXJ0	C1QT5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)			6	853	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	UPI0000072615	Error:Variant_position_missing_in_Q9BXJ0_after_alignment					SNV	MFRP,synonymous_variant,p.=,ENST00000555262,;MFRP,synonymous_variant,p.=,ENST00000449574,;MFRP,synonymous_variant,p.=,ENST00000360167,;C1QTNF5,5_prime_UTR_variant,,ENST00000445041,NM_031433.3,NM_015645.4;C1QTNF5,upstream_gene_variant,,ENST00000528368,NM_001278431.1;MFRP,non_coding_transcript_exon_variant,,ENST00000529147,;C1QTNF5,upstream_gene_variant,,ENST00000525657,;MFRP,synonymous_variant,p.=,ENST00000530681,;MFRP,downstream_gene_variant,,ENST00000526059,;	uc001pwj.2	c.693C>T	853/2280	2	2			c.693C>T						11	SNP	c.(691-693)CTC>CTT	47	47				0	Broad	membrane frizzled-related protein			119215663		0.617	ENSG00000235718	9351	g.chr11:119215663G>A		collagen								25.403158	KEEP	4	5	-1	3	8	4	5	-1	25.415472	3	8	0.470588	1	0	0	0	0	0	0	1	0	--	--		0	A			MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Silent_p.L231L	171	GBM-19-5951-TP	p.L231L	G	AGACCACCAGGAGGTGGCTGG	NM_031433	NP_113621	119215663	Q9BXJ0	C1QT5_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)	6	853	-	A	A		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	Silent	Error:Variant_position_missing_in_Q9BXJ0_after_alignment						
MFSD10	0	broad.mit.edu	GRCh37	4	2934851	2934851	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-6450-01	TCGA-28-6450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329687.4:c.354G>A	p.Pro118=	p.P118=	ENST00000329687	NM_001120.4	118	ccG/ccA	0			1			T	P	uc003gfw.2	protein_coding	YES	CCDS3365.1			354/1368										0	c.(352-354)CCG>CCA			Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR24003,hmmpanther:PTHR24003:SF438,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix	major facilitator superfamily domain containing				ENSP00000332646		12-Mar									COSM3134113	12-Mar	.		ENST00000329687	Transcript			apoptosis	integral to membrane	tetracycline transporter activity	ENSG00000109736	g.chr4:2934851C>T	16894			LOW								--	--	1																																		MFSD10_uc003gfv.2_5'Flank|MFSD10_uc003gfx.2_5'UTR|MFSD10_uc003gfz.2_Silent_p.P118P|MFSD10_uc003gfy.2_RNA|MFSD10_uc003gga.2_Silent_p.P118P|MFSD10_uc003ggb.1_Silent_p.P118P|MFSD10_uc003ggc.2_Silent_p.P118P|C4orf10_uc003ggd.1_5'Flank|C4orf10_uc003gge.1_5'Flank|C4orf10_uc003ggg.1_5'Flank|C4orf10_uc003ggh.2_5'Flank	1	1			p.P118P	NM_001120	NP_001111			1	MFS10_HUMAN	MFSD10	HGNC	Q14728	MFS10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)			3	668	-			UPI0000073302	118			Helical; (Potential).		SNV	MFSD10,synonymous_variant,p.=,ENST00000329687,NM_001120.4;MFSD10,synonymous_variant,p.=,ENST00000514800,;MFSD10,synonymous_variant,p.=,ENST00000355443,NM_001146069.1;MFSD10,synonymous_variant,p.=,ENST00000508221,;MFSD10,synonymous_variant,p.=,ENST00000507555,;ADD1,downstream_gene_variant,,ENST00000355842,NM_001286645.1;ADD1,downstream_gene_variant,,ENST00000398125,NM_176801.2,NM_014190.3;ADD1,downstream_gene_variant,,ENST00000264758,NM_014189.3;ADD1,downstream_gene_variant,,ENST00000446856,NM_001119.4;ADD1,downstream_gene_variant,,ENST00000398129,;NOP14,downstream_gene_variant,,ENST00000416614,;ADD1,downstream_gene_variant,,ENST00000503455,;ADD1,downstream_gene_variant,,ENST00000513328,;NOP14,downstream_gene_variant,,ENST00000314262,NM_003703.1;NOP14,downstream_gene_variant,,ENST00000502735,;NOP14,downstream_gene_variant,,ENST00000398071,;ADD1,downstream_gene_variant,,ENST00000398123,;ADD1,downstream_gene_variant,,ENST00000514940,;ADD1,downstream_gene_variant,,ENST00000536424,;ADD1,downstream_gene_variant,,ENST00000541843,;NOP14-AS1,upstream_gene_variant,,ENST00000515194,;NOP14-AS1,upstream_gene_variant,,ENST00000512712,;NOP14-AS1,upstream_gene_variant,,ENST00000505731,;NOP14-AS1,upstream_gene_variant,,ENST00000503709,;NOP14-AS1,upstream_gene_variant,,ENST00000507999,;NOP14-AS1,upstream_gene_variant,,ENST00000512802,;NOP14-AS1,upstream_gene_variant,,ENST00000507702,;NOP14,downstream_gene_variant,,ENST00000507120,;ADD1,downstream_gene_variant,,ENST00000538860,;MFSD10,synonymous_variant,p.=,ENST00000503596,;MFSD10,3_prime_UTR_variant,,ENST00000507272,;MFSD10,non_coding_transcript_exon_variant,,ENST00000509676,;ADD1,downstream_gene_variant,,ENST00000513762,;MFSD10,upstream_gene_variant,,ENST00000514031,;MFSD10,upstream_gene_variant,,ENST00000512781,;MFSD10,upstream_gene_variant,,ENST00000508276,;ADD1,downstream_gene_variant,,ENST00000503062,;	uc003gfw.2	c.354G>A	889/2173	2	2			c.354G>A						4	SNP	c.(352-354)CCG>CCA	27	27				0	Broad	major facilitator superfamily domain containing			2934851		0.627	ENSG00000109736	9353	g.chr4:2934851C>T	apoptosis	integral to membrane	tetracycline transporter activity							32.116358	KEEP	4	9	-1	12	6	4	9	-1	32.19551	12	6	0.44	1	0	0	0	0	0	0	1	0	--	--		0	T			MFSD10_uc003gfv.2_5'Flank|MFSD10_uc003gfx.2_5'UTR|MFSD10_uc003gfz.2_Silent_p.P118P|MFSD10_uc003gfy.2_RNA|MFSD10_uc003gga.2_Silent_p.P118P|MFSD10_uc003ggb.1_Silent_p.P118P|MFSD10_uc003ggc.2_Silent_p.P118P|C4orf10_uc003ggd.1_5'Flank|C4orf10_uc003gge.1_5'Flank|C4orf10_uc003ggg.1_5'Flank|C4orf10_uc003ggh.2_5'Flank	227	GBM-28-6450-TP	p.P118P	C	GCAGCATCACCGGGCGCCTCC	NM_001120	NP_001111	2934851	Q14728	MFS10_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	3	668	-	T	T			Silent	118			Helical; (Potential).			
MFSD12	0	broad.mit.edu	GRCh37	19	3550991	3550991	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01	TCGA-27-2526-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355415.2:c.500C>T	p.Thr167Met	p.T167M	ENST00000355415	NM_174983.3	167	aCg/aTg	0	A:0		1			A	T/M	uc002lxz.2	protein_coding		CCDS42465.1			500/1443									breast(1)|pancreas(1)	2	c.(499-501)ACG>ATG			Transmembrane_helices:TMhelix,hmmpanther:PTHR11328,hmmpanther:PTHR11328:SF28,Pfam_domain:PF13347,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	hypothetical protein LOC126321 isoform c			A:0.0001	ENSP00000347583		10-Feb	3.32E-05					7.11E-05			rs372325734,COSM418330,COSM1133548,COSM3404108	10-Feb	.		ENST00000355415	Transcript			transmembrane transport	integral to membrane		ENSG00000161091	g.chr19:3550991G>A	28299			MODERATE		2.395	medium	getma.org/?cm=msa&ty=f&p=MFS12_HUMAN&rb=1&re=200&var=T167M	NA	getma.org/?cm=var&var=hg19,19,3550991,G,A&fts=all	T167M	--	--	1																																		C19orf28_uc002lxw.2_Missense_Mutation_p.T167M|C19orf28_uc002lxx.2_Missense_Mutation_p.T167M|C19orf28_uc002lxy.2_Missense_Mutation_p.T158M	0,1,1,1			probably_damaging(0.982)	p.T167M	NM_174983	NP_778148		deleterious(0)	0,1,1,1	MFS12_HUMAN	MFSD12	HGNC	Q6NUT3	CS028_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18)			2	670	-		Hepatocellular(1079;0.137)	UPI0000046FA8	167					SNV	MFSD12,missense_variant,p.Thr167Met,ENST00000355415,NM_174983.3;MFSD12,missense_variant,p.Thr167Met,ENST00000398558,NM_021731.2;MFSD12,missense_variant,p.Thr167Met,ENST00000389395,NM_001042680.1;MFSD12,missense_variant,p.Thr18Met,ENST00000589995,;MFSD12,intron_variant,,ENST00000592652,;MFSD12,upstream_gene_variant,,ENST00000589063,;AC005786.7,intron_variant,,ENST00000589360,;MFSD12,non_coding_transcript_exon_variant,,ENST00000591878,;MFSD12,missense_variant,p.Thr158Met,ENST00000588918,NM_001287529.1;MFSD12,3_prime_UTR_variant,,ENST00000585814,;MFSD12,3_prime_UTR_variant,,ENST00000588626,;	uc002lxz.2	c.500C>T	670/2124	2	2			c.500C>T						19	SNP	c.(499-501)ACG>ATG	29	29			breast(1)|pancreas(1)	2	Broad	hypothetical protein LOC126321 isoform c			3550991		0.557	ENSG00000161091	1875	g.chr19:3550991G>A	transmembrane transport	integral to membrane								0.726364	KEEP	0	3	-1	22	13	0	3	-1	6.789982	22	13	0.085714	1	0	0	0	0	1	0	0	0	--	--		0	A			C19orf28_uc002lxw.2_Missense_Mutation_p.T167M|C19orf28_uc002lxx.2_Missense_Mutation_p.T167M|C19orf28_uc002lxy.2_Missense_Mutation_p.T158M	203	GBM-27-2526-TP	p.T167M	G	CCTGAGTGCCGTGAGCTCCAC	NM_174983	NP_778148	3550991	Q6NUT3	CS028_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18)	2	670	-	A	A		Hepatocellular(1079;0.137)	Missense_Mutation	167						
MFSD12	0	broad.mit.edu	GRCh37	19	3547922	3547922	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-28-5215-01	TCGA-28-5215-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355415.2:c.761C>G	p.Thr254Ser	p.T254S	ENST00000355415	NM_174983.3	254	aCc/aGc	0			1			C	T/S	uc002lxz.2	protein_coding		CCDS42465.1			761/1443									breast(1)|pancreas(1)	2	c.(760-762)ACC>AGC			Low_complexity_(Seg):seg,hmmpanther:PTHR11328,hmmpanther:PTHR11328:SF28,Pfam_domain:PF13347,Superfamily_domains:SSF103473	hypothetical protein LOC126321 isoform c				ENSP00000347583		10-Apr	1.68E-05					2.99E-05			rs747397118,COSM3404104,COSM3404106,COSM3404105	10-Apr	.		ENST00000355415	Transcript			transmembrane transport	integral to membrane		ENSG00000161091	g.chr19:3547922G>C	28299			MODERATE		-0.455	neutral	getma.org/?cm=msa&ty=f&p=MFS12_HUMAN&rb=201&re=400&var=T254S	NA	getma.org/?cm=var&var=hg19,19,3547922,G,C&fts=all	T254S	--	--	1																																		C19orf28_uc002lxw.2_Missense_Mutation_p.T254S|C19orf28_uc002lxx.2_Missense_Mutation_p.T254S|C19orf28_uc002lxy.2_Missense_Mutation_p.T245S	0,1,1,1			benign(0.006)	p.T254S	NM_174983	NP_778148		tolerated(1)	0,1,1,1	MFS12_HUMAN	MFSD12	HGNC	Q6NUT3	CS028_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18)			4	931	-		Hepatocellular(1079;0.137)	UPI0000046FA8	254					SNV	MFSD12,missense_variant,p.Thr254Ser,ENST00000355415,NM_174983.3;MFSD12,missense_variant,p.Thr254Ser,ENST00000398558,NM_021731.2;MFSD12,missense_variant,p.Thr254Ser,ENST00000389395,NM_001042680.1;MFSD12,missense_variant,p.Thr105Ser,ENST00000589995,;MFSD12,missense_variant,p.His78Gln,ENST00000592652,;C19orf71,downstream_gene_variant,,ENST00000329493,NM_001135580.1;MFSD12,upstream_gene_variant,,ENST00000589063,;AC005786.7,intron_variant,,ENST00000589360,;MFSD12,non_coding_transcript_exon_variant,,ENST00000591878,;MFSD12,missense_variant,p.Thr245Ser,ENST00000588918,NM_001287529.1;MFSD12,3_prime_UTR_variant,,ENST00000585814,;MFSD12,upstream_gene_variant,,ENST00000589157,;MFSD12,downstream_gene_variant,,ENST00000588626,;	uc002lxz.2	c.761C>G	931/2124	4	4			c.761C>G						19	SNP	c.(760-762)ACC>AGC	44	44			breast(1)|pancreas(1)	2	Broad	hypothetical protein LOC126321 isoform c			3547922		0.711	ENSG00000161091	1875	g.chr19:3547922G>C	transmembrane transport	integral to membrane								22.220666	KEEP	4	4	-1	6	10	4	4	-1	22.509551	6	10	0.368421	1	0	0	0	0	1	0	0	0	--	--		0	C			C19orf28_uc002lxw.2_Missense_Mutation_p.T254S|C19orf28_uc002lxx.2_Missense_Mutation_p.T254S|C19orf28_uc002lxy.2_Missense_Mutation_p.T245S	222	GBM-28-5215-TP	p.T254S	G	CAACAGGGGGGTGTGCTCGCC	NM_174983	NP_778148	3547922	Q6NUT3	CS028_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18)	4	931	-	C	C		Hepatocellular(1079;0.137)	Missense_Mutation	254						
MFSD12	126321		GRCh37	19	3557226	3557226	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000398558.4:c.176G>A	p.Gly59Glu	p.G59E	ENST00000398558	NM_021731.2	59	gGg/gAg	0																																																																																																																																																																																																																																												
MFSD2A	0	broad.mit.edu	GRCh37	1	40432533	40432533	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01	TCGA-16-0846-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372809.5:c.895C>T	p.Arg299Trp	p.R299W	ENST00000372809	NM_001136493.1	299	Cgg/Tgg	0	T:0		1			T	R/W	uc001cev.2	protein_coding	YES	CCDS44118.1			895/1632									ovary(1)|pancreas(1)	2	c.(895-897)CGG>TGG			Pfam_domain:PF13347,hmmpanther:PTHR11328,hmmpanther:PTHR11328:SF29,Superfamily_domains:SSF103473	major facilitator superfamily domain containing			T:0.0001	ENSP00000361895		14-Aug	8.24E-06					1.50E-05			rs373419262,COSM909364	14-Aug	.		ENST00000372809	Transcript			transmembrane transport	endoplasmic reticulum membrane|integral to membrane		ENSG00000168389	g.chr1:40432533C>T	25897			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=MFS2A_HUMAN&rb=44&re=509&var=R299W	NA	getma.org/?cm=var&var=hg19,1,40432533,C,T&fts=all	R299W	--	--	1																																		MFSD2A_uc010ojb.1_Missense_Mutation_p.R247W|MFSD2A_uc001ceu.2_Missense_Mutation_p.R286W|MFSD2A_uc010ojc.1_Missense_Mutation_p.R130W|MFSD2A_uc009vvy.2_RNA|MFSD2A_uc001cex.2_5'Flank	0,1	1		benign(0.075)	p.R299W	NM_001136493	NP_001129965		tolerated(0.21)	0,1	MFS2A_HUMAN	MFSD2A	HGNC	Q8NA29	MFS2A_HUMAN			Q71RE4_HUMAN,E7EPI8_HUMAN		8	1076	+			UPI0000072562	299					SNV	MFSD2A,missense_variant,p.Arg299Trp,ENST00000372809,NM_001136493.1;MFSD2A,missense_variant,p.Arg286Trp,ENST00000372811,NM_032793.3;MFSD2A,missense_variant,p.Arg130Trp,ENST00000420632,;MFSD2A,downstream_gene_variant,,ENST00000434861,;MFSD2A,non_coding_transcript_exon_variant,,ENST00000483824,;MFSD2A,non_coding_transcript_exon_variant,,ENST00000469745,;MFSD2A,non_coding_transcript_exon_variant,,ENST00000491515,;MFSD2A,intron_variant,,ENST00000480630,;MFSD2A,upstream_gene_variant,,ENST00000481612,;MFSD2A,upstream_gene_variant,,ENST00000459917,;RP3-342P20.2,downstream_gene_variant,,ENST00000438210,;	uc001cev.2	c.895C>T	1038/2173	1	1			c.895C>T						1	SNP	c.(895-897)CGG>TGG	4	4			ovary(1)|pancreas(1)	2	Broad	major facilitator superfamily domain containing			40432533		0.572	ENSG00000168389	9355	g.chr1:40432533C>T	transmembrane transport	endoplasmic reticulum membrane|integral to membrane				141			141	85.162303	KEEP	30	25	-1	105	54	30	25	-1	94.184375	105	54	0.239726	1	0	0	0	0	1	0	0	0	--	--		0	T			MFSD2A_uc010ojb.1_Missense_Mutation_p.R247W|MFSD2A_uc001ceu.2_Missense_Mutation_p.R286W|MFSD2A_uc010ojc.1_Missense_Mutation_p.R130W|MFSD2A_uc009vvy.2_RNA|MFSD2A_uc001cex.2_5'Flank	155	GBM-16-0846-TP	p.R299W	C	CCGGGGCCTACGGCTGGTCAT	NM_001136493	NP_001129965	40432533	Q8NA29	MFS2A_HUMAN	0			8	1076	+	T	T			Missense_Mutation	299						
MFSD2A	0	broad.mit.edu	GRCh37	1	40431623	40431623	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-26-5134-01	TCGA-26-5134-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372809.5:c.690T>C	p.Asn230=	p.N230=	ENST00000372809	NM_001136493.1	230	aaT/aaC	0			1			C	N	uc001cev.2	protein_coding	YES	CCDS44118.1			690/1632									ovary(1)|pancreas(1)	2	c.(688-690)AAT>AAC			Gene3D:1.20.1250.20,Pfam_domain:PF13347,hmmpanther:PTHR11328,hmmpanther:PTHR11328:SF29	major facilitator superfamily domain containing				ENSP00000361895		14-Jun									COSM2156994	14-Jun	.		ENST00000372809	Transcript			transmembrane transport	endoplasmic reticulum membrane|integral to membrane		ENSG00000168389	g.chr1:40431623T>C	25897			LOW								--	--	1																																		MFSD2A_uc010ojb.1_Silent_p.N180N|MFSD2A_uc001ceu.2_Silent_p.N217N|MFSD2A_uc010ojc.1_Silent_p.N61N|MFSD2A_uc009vvy.2_RNA|MFSD2A_uc001cex.2_5'Flank	1	1			p.N230N	NM_001136493	NP_001129965			1	MFS2A_HUMAN	MFSD2A	HGNC	Q8NA29	MFS2A_HUMAN			Q71RE4_HUMAN,E7EPI8_HUMAN		6	871	+			UPI0000072562	230					SNV	MFSD2A,synonymous_variant,p.=,ENST00000372809,NM_001136493.1;MFSD2A,synonymous_variant,p.=,ENST00000372811,NM_032793.3;MFSD2A,synonymous_variant,p.=,ENST00000420632,;MFSD2A,synonymous_variant,p.=,ENST00000434861,;MFSD2A,non_coding_transcript_exon_variant,,ENST00000480630,;MFSD2A,non_coding_transcript_exon_variant,,ENST00000483824,;MFSD2A,non_coding_transcript_exon_variant,,ENST00000469745,;MFSD2A,upstream_gene_variant,,ENST00000481612,;MFSD2A,upstream_gene_variant,,ENST00000491515,;MFSD2A,upstream_gene_variant,,ENST00000459917,;RP3-342P20.2,downstream_gene_variant,,ENST00000438210,;	uc001cev.2	c.690T>C	833/2173	3	3			c.690T>C						1	SNP	c.(688-690)AAT>AAC	1	1			ovary(1)|pancreas(1)	2	Broad	major facilitator superfamily domain containing			40431623		0.572	ENSG00000168389	9355	g.chr1:40431623T>C	transmembrane transport	endoplasmic reticulum membrane|integral to membrane				141			141	177.323867	KEEP	24	30	-1	47	50	24	30	-1	179.944497	47	50	0.35461	1	0	0	0	0	0	0	1	0	--	--		0	C			MFSD2A_uc010ojb.1_Silent_p.N180N|MFSD2A_uc001ceu.2_Silent_p.N217N|MFSD2A_uc010ojc.1_Silent_p.N61N|MFSD2A_uc009vvy.2_RNA|MFSD2A_uc001cex.2_5'Flank	183	GBM-26-5134-TP	p.N230N	T	AGGACCTCAATAGCTCTACAG	NM_001136493	NP_001129965	40431623	Q8NA29	MFS2A_HUMAN	0			6	871	+	C	C			Silent	230						
MFSD2B	0	broad.mit.edu	GRCh37	2	24246495	24246495	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4927-01	TCGA-76-4927-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000406420.3:c.1212C>T	p.His404=	p.H404=	ENST00000406420	NM_001080473.1	404	caC/caT	0			1			T	H	uc002reo.1	protein_coding	YES	CCDS46228.1			1212/1494									ovary(2)	2	c.(1210-1212)CAC>CAT			Superfamily_domains:SSF103473,Pfam_domain:PF13347,Gene3D:1.20.1250.20,hmmpanther:PTHR11328,hmmpanther:PTHR11328:SF30	major facilitator superfamily domain containing				ENSP00000385527		13-Dec	2.48E-05					3.00E-05		6.06E-05	rs778812855,COSM3407758,COSM3407757	13-Dec	.		ENST00000406420	Transcript			transport	integral to membrane		ENSG00000205639	g.chr2:24246495C>T	37207			LOW								--	--	1																																			0,1,1	1			p.H404H	NM_001080473	NP_001073942			0,1,1	MFS2B_HUMAN	MFSD2B	HGNC	A6NFX1	MFS2B_HUMAN					12	1226	+			UPI0000DD79F8	404					SNV	MFSD2B,synonymous_variant,p.=,ENST00000338315,;MFSD2B,synonymous_variant,p.=,ENST00000406420,NM_001080473.1;MFSD2B,non_coding_transcript_exon_variant,,ENST00000469562,;MFSD2B,downstream_gene_variant,,ENST00000495018,;MFSD2B,upstream_gene_variant,,ENST00000453731,;	uc002reo.1	c.1212C>T	1228/1528	2	2			c.1212C>T						2	SNP	c.(1210-1212)CAC>CAT	21	21			ovary(2)	2	Broad	major facilitator superfamily domain containing			24246495		0.622	ENSG00000205639	9356	g.chr2:24246495C>T	transport	integral to membrane								162.157368	KEEP	30	33	-1	44	47	30	33	-1	163.394417	44	47	0.402685	1	0	0	0	0	0	0	1	0	--	--		0	T				267	GBM-76-4927-TP	p.H404H	C	AGCTGCAGCACCGTCACGGGC	NM_001080473	NP_001073942	24246495	A6NFX1	MFS2B_HUMAN	0			12	1226	+	T	T			Silent	404						
MFSD5	84975	broad.mit.edu	GRCh37	12	53647741	53647741	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0189-01	TCGA-06-0189-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000534842.1:c.1443G>A	p.Gln481=	p.Q481=	ENST00000534842	NM_001170790.1	481	caG/caA	0			1			A	Q	uc001sci.1	protein_coding		CCDS8851.1			1122/1353									skin(2)|ovary(1)	3	c.(1120-1122)CAG>CAA			Superfamily_domains:SSF103473,Gene3D:1.20.1250.20,hmmpanther:PTHR24003:SF500,hmmpanther:PTHR24003	major facilitator superfamily domain containing				ENSP00000332624		2-Feb									COSM3398845,COSM3398844	2-Feb	.		ENST00000329548	Transcript			transport	integral to membrane		ENSG00000182544	g.chr12:53647741G>A	28156			LOW								--	--	1																																		MFSD5_uc001sch.1_Silent_p.Q481Q	1,1				p.Q374Q	NM_032889	NP_116278			1,1	MFSD5_HUMAN	MFSD5	HGNC	Q6N075	MFSD5_HUMAN					2	1313	+			UPI0000039E83	374					SNV	MFSD5,synonymous_variant,p.=,ENST00000534842,NM_001170790.1;MFSD5,synonymous_variant,p.=,ENST00000329548,NM_032889.4;MFSD5,downstream_gene_variant,,ENST00000551660,;MFSD5,downstream_gene_variant,,ENST00000546655,;MFSD5,downstream_gene_variant,,ENST00000552097,;	uc001sci.1	c.1122G>A	1313/1760	2	2			c.1122G>A						12	SNP	c.(1120-1122)CAG>CAA	18	18			skin(2)|ovary(1)	3	Broad	major facilitator superfamily domain containing			53647741		0.502	ENSG00000182544	9359	g.chr12:53647741G>A	transport	integral to membrane								6.214852	KEEP	11	4	-1	92	108	11	4	-1	34.810605	92	108	0.085366	1	0	0	0	0	0	0	1	0	--	--		0	A			MFSD5_uc001sch.1_Silent_p.Q481Q	42	GBM-06-0189-TP	p.Q374Q	G	AGACAGAGCAGGCTGGTGTAC	NM_032889	NP_116278	53647741	Q6N075	MFSD5_HUMAN	0			2	1313	+	A	A			Silent	374						
MFSD5	84975		GRCh37	12	53646716	53646716	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000534842.1:c.418T>A	p.Cys140Ser	p.C140S	ENST00000534842	NM_001170790.1	140	Tgc/Agc	0																																																																																																																																																																																																																																												
MFSD6	0	broad.mit.edu	GRCh37	2	191301881	191301881	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs147647208		TCGA-14-1395-01	TCGA-14-1395-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281416.7:c.1126G>T	p.Gly376Cys	p.G376C	ENST00000281416		376	Ggc/Tgc	0			1			T	G/C	uc002urz.2	protein_coding		CCDS2306.1			1126/2376									ovary(2)	2	c.(1126-1128)GGC>TGC			Transmembrane_helices:TMhelix,Superfamily_domains:SSF103473,Gene3D:1.20.1250.20,hmmpanther:PTHR16172,hmmpanther:PTHR16172:SF2	major facilitator superfamily domain containing				ENSP00000281416		6-Jan									COSM3407418	6-Jan	.		ENST00000281416	Transcript			transmembrane transport	integral to membrane		ENSG00000151690	g.chr2:191301881G>T	24711			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=MFSD6_HUMAN&rb=344&re=449&var=G376C	NA	getma.org/?cm=var&var=hg19,2,191301881,G,T&fts=all	G376C	--	--	1																																			1			possibly_damaging(0.606)	p.G376C	NM_017694	NP_060164		tolerated(0.06)	1	MFSD6_HUMAN	MFSD6	HGNC	Q6ZSS7	MFSD6_HUMAN			C9JJH2_HUMAN,C9JAZ7_HUMAN,C9J134_HUMAN,C9IYL1_HUMAN,B7Z810_HUMAN,B7Z7Y2_HUMAN		3	1450	+			UPI000022BD91	376			Helical; (Potential).		SNV	MFSD6,missense_variant,p.Gly376Cys,ENST00000392328,NM_017694.3;MFSD6,missense_variant,p.Gly376Cys,ENST00000281416,;MFSD6,upstream_gene_variant,,ENST00000434582,;MFSD6,downstream_gene_variant,,ENST00000445546,;MFSD6,downstream_gene_variant,,ENST00000432036,;MFSD6,downstream_gene_variant,,ENST00000417958,;	uc002urz.2	c.1126G>T	1261/4608	1	1			c.1126G>T						2	SNP	c.(1126-1128)GGC>TGC	4	4			ovary(2)	2	Broad	major facilitator superfamily domain containing			191301881		0.517	ENSG00000151690	9360	g.chr2:191301881G>T	transmembrane transport	integral to membrane								69.493982	KEEP	14	11	0.56	13	17	14	11	0.56	69.559367	13	17	0.458333	1	0	0	0	0	1	0	0	0	--	--		0	T				144	GBM-14-1395-TP	p.G376C	G	CATCGTCTTCGGCGTTCTCAT	NM_017694	NP_060164	191301881	Q6ZSS7	MFSD6_HUMAN	0			3	1450	+	T	T			Missense_Mutation	376			Helical; (Potential).			
MFSD6L	162387	broad.mit.edu	GRCh37	17	8701786	8701786	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0174-01	TCGA-06-0174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329805.4:c.653G>T	p.Gly218Val	p.G218V	ENST00000329805	NM_152599.3	218	gGg/gTg	0			1			A	G/V	uc002glp.1	protein_coding	YES	CCDS11146.1			653/1761									central_nervous_system(1)	1	c.(652-654)GGG>GTG			Low_complexity_(Seg):seg,hmmpanther:PTHR16172:SF22,hmmpanther:PTHR16172,Pfam_domain:PF13347	major facilitator superfamily domain containing				ENSP00000330051		1-Jan									COSM3403412	1-Jan	.		ENST00000329805	Transcript				integral to membrane		ENSG00000185156	g.chr17:8701786C>A	26656			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=MFS6L_HUMAN&rb=19&re=530&var=G218V	NA	getma.org/?cm=var&var=hg19,17,8701786,C,A&fts=all	G218V	--	--	1																																			1	1		benign(0.007)	p.G218V	NM_152599	NP_689812		tolerated(0.48)	1	MFS6L_HUMAN	MFSD6L	HGNC	Q8IWD5	MFS6L_HUMAN					1	801	-			UPI0000141B5F	218					SNV	MFSD6L,missense_variant,p.Gly218Val,ENST00000329805,NM_152599.3;PIK3R6,downstream_gene_variant,,ENST00000311434,NM_001010855.2;PIK3R6,downstream_gene_variant,,ENST00000434064,;PIK3R6,downstream_gene_variant,,ENST00000583984,;PIK3R6,downstream_gene_variant,,ENST00000452122,;	uc002glp.1	c.653G>T	882/2232	2	2			c.653G>T						17	SNP	c.(652-654)GGG>GTG	17	17			central_nervous_system(1)	1	Broad	major facilitator superfamily domain containing			8701786		0.577	ENSG00000185156	9361	g.chr17:8701786C>A		integral to membrane								229.719197	KEEP	36	52	0.590909091	73	76	36	52	0.590909091	232.121519	73	76	0.384615	1	0	0	0	0	1	0	0	0	--	--		0	A				37	GBM-06-0174-TP	p.G218V	C	ATTCCCGGGCCCTTTCCCCCC	NM_152599	NP_689812	8701786	Q8IWD5	MFS6L_HUMAN	0			1	801	-	A	A			Missense_Mutation	218						
MFSD6L	162387	broad.mit.edu	GRCh37	17	8700984	8700984	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6389-01	TCGA-06-6389-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329805.4:c.1455C>T	p.Pro485=	p.P485=	ENST00000329805	NM_152599.3	485	ccC/ccT	0			1			A	P	uc002glp.1	protein_coding	YES	CCDS11146.1			1455/1761									central_nervous_system(1)	1	c.(1453-1455)CCC>CCT			hmmpanther:PTHR16172:SF22,hmmpanther:PTHR16172,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	major facilitator superfamily domain containing				ENSP00000330051		1-Jan										1-Jan	.		ENST00000329805	Transcript				integral to membrane		ENSG00000185156	g.chr17:8700984G>A	26656			LOW								--	--	1																																				1			p.P485P	NM_152599	NP_689812				MFS6L_HUMAN	MFSD6L	HGNC	Q8IWD5	MFS6L_HUMAN					1	1603	-			UPI0000141B5F	485					SNV	MFSD6L,synonymous_variant,p.=,ENST00000329805,NM_152599.3;	uc002glp.1	c.1455C>T	1684/2232	1	1			c.1455C>T						17	SNP	c.(1453-1455)CCC>CCT	59	59			central_nervous_system(1)	1	Broad	major facilitator superfamily domain containing			8700984		0.607	ENSG00000185156	9361	g.chr17:8700984G>A		integral to membrane								-1.449647	KEEP	1	3	-1	30	28	1	3	-1	10.227829	30	28	0.066667	1	0	0	0	0	0	0	1	0	--	--		0	A				105	GBM-06-6389-TP	p.P485P	G	TCTCCATGCGGGGAGTGGCCA	NM_152599	NP_689812	8700984	Q8IWD5	MFS6L_HUMAN	0			1	1603	-	A	A			Silent	485						
MFSD6L	0	broad.mit.edu	GRCh37	17	8702398	8702398	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-5954-01	TCGA-19-5954-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329805.4:c.41G>T	p.Gly14Val	p.G14V	ENST00000329805	NM_152599.3	14	gGg/gTg	0			1			A	G/V	uc002glp.1	protein_coding	YES	CCDS11146.1			41/1761									central_nervous_system(1)	1	c.(40-42)GGG>GTG			hmmpanther:PTHR16172:SF22,hmmpanther:PTHR16172,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	major facilitator superfamily domain containing				ENSP00000330051		1-Jan									COSM2156727	1-Jan	.		ENST00000329805	Transcript				integral to membrane		ENSG00000185156	g.chr17:8702398C>A	26656			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=MFS6L_HUMAN&rb=1&re=48&var=G14V	NA	getma.org/?cm=var&var=hg19,17,8702398,C,A&fts=all	G14V	--	--	1																																			1	1		benign(0.05)	p.G14V	NM_152599	NP_689812		tolerated(0.18)	1	MFS6L_HUMAN	MFSD6L	HGNC	Q8IWD5	MFS6L_HUMAN					1	189	-			UPI0000141B5F	14					SNV	MFSD6L,missense_variant,p.Gly14Val,ENST00000329805,NM_152599.3;PIK3R6,downstream_gene_variant,,ENST00000311434,NM_001010855.2;PIK3R6,downstream_gene_variant,,ENST00000434064,;PIK3R6,downstream_gene_variant,,ENST00000583984,;PIK3R6,downstream_gene_variant,,ENST00000452122,;	uc002glp.1	c.41G>T	270/2232	2	2			c.41G>T						17	SNP	c.(40-42)GGG>GTG	38	38			central_nervous_system(1)	1	Broad	major facilitator superfamily domain containing			8702398		0.726	ENSG00000185156	9361	g.chr17:8702398C>A		integral to membrane								38.000281	KEEP	11	7	0.388888889	10	31	11	7	0.388888889	40.243153	10	31	0.283019	1	0	0	0	0	1	0	0	0	--	--		0	A				174	GBM-19-5954-TP	p.G14V	C	CTTGGCCACCCCCAGCGCCCT	NM_152599	NP_689812	8702398	Q8IWD5	MFS6L_HUMAN	0			1	189	-	A	A			Missense_Mutation	14						
MFSD7	0	broad.mit.edu	GRCh37	4	680063	680063	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01	TCGA-06-5408-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322224.4:c.323C>T	p.Ala108Val	p.A108V	ENST00000322224		108	gCc/gTc	0			1			A	A/V	uc003gay.2	protein_coding					323/1683										0	c.(322-324)GCC>GTC			hmmpanther:PTHR10924,hmmpanther:PTHR10924:SF6,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	major facilitator superfamily domain containing				ENSP00000384616		10-Mar									COSM3409404	10-Mar	.		ENST00000404286	Transcript			transmembrane transport	integral to membrane		ENSG00000169026	g.chr4:680063G>A	26177			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=MFSD7_HUMAN&rb=32&re=393&var=A108V	NA	getma.org/?cm=var&var=hg19,4,680063,G,A&fts=all	A108V	--	--	1																																		MFSD7_uc003gaw.2_5'Flank|MFSD7_uc003gax.2_Missense_Mutation_p.A108V|MFSD7_uc003gaz.2_Intron|MFSD7_uc003gba.2_Intron|MFSD7_uc003gbb.1_Missense_Mutation_p.A44V	1			benign(0.017)	p.A108V	NM_032219	NP_115595		tolerated(1)	1	MFSD7_HUMAN	MFSD7	HGNC	Q6UXD7	MFSD7_HUMAN			D6RB07_HUMAN		3	380	-			UPI00001D6976	108			Helical; (Potential).		SNV	MFSD7,missense_variant,p.Ala108Val,ENST00000322224,;MFSD7,missense_variant,p.Ala108Val,ENST00000404286,NM_032219.2;MFSD7,missense_variant,p.Ala44Val,ENST00000503156,;MFSD7,missense_variant,p.Ala44Val,ENST00000507165,;MFSD7,intron_variant,,ENST00000347950,;MFSD7,intron_variant,,ENST00000515118,;MFSD7,intron_variant,,ENST00000512249,;MYL5,downstream_gene_variant,,ENST00000506838,;MYL5,downstream_gene_variant,,ENST00000511290,;MYL5,downstream_gene_variant,,ENST00000400159,NM_002477.1;MYL5,downstream_gene_variant,,ENST00000505477,;MFSD7,intron_variant,,ENST00000513740,;MYL5,downstream_gene_variant,,ENST00000503300,;MFSD7,upstream_gene_variant,,ENST00000512400,;MYL5,downstream_gene_variant,,ENST00000513662,;MYL5,downstream_gene_variant,,ENST00000503612,;	uc003gay.2	c.323C>T	339/1826	2	2			c.323C>T						4	SNP	c.(322-324)GCC>GTC	35	35				0	Broad	major facilitator superfamily domain containing			680063		0.657	ENSG00000169026	9362	g.chr4:680063G>A	transmembrane transport	integral to membrane								90.802761	KEEP	15	19	-1	20	34	15	19	-1	91.605042	20	34	0.392405	1	0	0	0	0	1	0	0	0	--	--		0	A			MFSD7_uc003gaw.2_5'Flank|MFSD7_uc003gax.2_Missense_Mutation_p.A108V|MFSD7_uc003gaz.2_Intron|MFSD7_uc003gba.2_Intron|MFSD7_uc003gbb.1_Missense_Mutation_p.A44V	92	GBM-06-5408-TP	p.A108V	G	CACACTCCCGGCAAAGTTCAG	NM_032219	NP_115595	680063	Q6UXD7	MFSD7_HUMAN	0			3	380	-	A	A			Missense_Mutation	108			Helical; (Potential).			
MFSD7	0	broad.mit.edu	GRCh37	4	680077	680077	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000404286.2:c.309G>A	p.Ala103=	p.A103=	ENST00000404286	NM_032219.2	103	gcG/gcA	0	T:0		1			T	A	uc003gay.2	protein_coding					309/1683										0	c.(307-309)GCG>GCA			hmmpanther:PTHR10924,hmmpanther:PTHR10924:SF6,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	major facilitator superfamily domain containing			T:0.0001	ENSP00000384616		10-Mar	3.30E-05			0.000349		1.54E-05			rs371460109,COSM3409405	10-Mar	.		ENST00000404286	Transcript			transmembrane transport	integral to membrane		ENSG00000169026	g.chr4:680077C>T	26177			LOW								--	--	1																																		MFSD7_uc003gaw.2_5'Flank|MFSD7_uc003gax.2_Silent_p.A103A|MFSD7_uc003gaz.2_Intron|MFSD7_uc003gba.2_Intron|MFSD7_uc003gbb.1_Silent_p.A39A	0,1				p.A103A	NM_032219	NP_115595			0,1	MFSD7_HUMAN	MFSD7	HGNC	Q6UXD7	MFSD7_HUMAN			D6RB07_HUMAN		3	366	-			UPI00001D6976	103			Helical; (Potential).		SNV	MFSD7,synonymous_variant,p.=,ENST00000322224,;MFSD7,synonymous_variant,p.=,ENST00000404286,NM_032219.2;MFSD7,synonymous_variant,p.=,ENST00000503156,;MFSD7,synonymous_variant,p.=,ENST00000507165,;MFSD7,intron_variant,,ENST00000347950,;MFSD7,intron_variant,,ENST00000515118,;MFSD7,intron_variant,,ENST00000512249,;MYL5,downstream_gene_variant,,ENST00000506838,;MYL5,downstream_gene_variant,,ENST00000511290,;MYL5,downstream_gene_variant,,ENST00000400159,NM_002477.1;MYL5,downstream_gene_variant,,ENST00000505477,;MFSD7,intron_variant,,ENST00000513740,;MYL5,downstream_gene_variant,,ENST00000503300,;MFSD7,upstream_gene_variant,,ENST00000512400,;MYL5,downstream_gene_variant,,ENST00000513662,;MYL5,downstream_gene_variant,,ENST00000503612,;	uc003gay.2	c.309G>A	325/1826	1	1			c.309G>A						4	SNP	c.(307-309)GCG>GCA	3	3				0	Broad	major facilitator superfamily domain containing			680077		0.652	ENSG00000169026	9362	g.chr4:680077C>T	transmembrane transport	integral to membrane								92.665235	KEEP	15	28	-1	24	28	15	28	-1	93.042325	24	28	0.428571	1	0	0	0	0	0	0	1	0	--	--		0	T			MFSD7_uc003gaw.2_5'Flank|MFSD7_uc003gax.2_Silent_p.A103A|MFSD7_uc003gaz.2_Intron|MFSD7_uc003gba.2_Intron|MFSD7_uc003gbb.1_Silent_p.A39A	131	GBM-12-5301-TP	p.A103A	C	AGTTCAGCCACGCACCCAGGA	NM_032219	NP_115595	680077	Q6UXD7	MFSD7_HUMAN	0			3	366	-	T	T			Silent	103			Helical; (Potential).			
MFSD7	0	broad.mit.edu	GRCh37	4	680439	680439	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-2495-01	TCGA-32-2495-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000404286.2:c.176A>G	p.Glu59Gly	p.E59G	ENST00000404286	NM_032219.2	59	gAg/gGg	0			1			C	E/G	uc003gay.2	protein_coding					176/1683										0	c.(175-177)GAG>GGG			hmmpanther:PTHR10924,hmmpanther:PTHR10924:SF6,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	major facilitator superfamily domain containing				ENSP00000384616		10-Feb									COSM3409406	10-Feb	.		ENST00000404286	Transcript			transmembrane transport	integral to membrane		ENSG00000169026	g.chr4:680439T>C	26177			MODERATE		1.07	low	getma.org/?cm=msa&ty=f&p=MFSD7_HUMAN&rb=32&re=393&var=E59G	NA	getma.org/?cm=var&var=hg19,4,680439,T,C&fts=all	E59G	--	--	1																																		MFSD7_uc003gaw.2_5'Flank|MFSD7_uc003gax.2_Missense_Mutation_p.E59G|MFSD7_uc003gaz.2_Intron|MFSD7_uc003gba.2_Missense_Mutation_p.E59G|MFSD7_uc003gbb.1_5'UTR	1			benign(0.105)	p.E59G	NM_032219	NP_115595		tolerated(0.1)	1	MFSD7_HUMAN	MFSD7	HGNC	Q6UXD7	MFSD7_HUMAN			D6RB07_HUMAN		2	233	-			UPI00001D6976	59					SNV	MFSD7,missense_variant,p.Glu59Gly,ENST00000322224,;MFSD7,missense_variant,p.Glu59Gly,ENST00000404286,NM_032219.2;MFSD7,missense_variant,p.Glu59Gly,ENST00000515118,;MFSD7,missense_variant,p.Glu59Gly,ENST00000512249,;MFSD7,5_prime_UTR_variant,,ENST00000503156,;MFSD7,5_prime_UTR_variant,,ENST00000507165,;MFSD7,intron_variant,,ENST00000347950,;MYL5,downstream_gene_variant,,ENST00000506838,;MYL5,downstream_gene_variant,,ENST00000511290,;MYL5,downstream_gene_variant,,ENST00000400159,NM_002477.1;MYL5,downstream_gene_variant,,ENST00000505477,;MFSD7,non_coding_transcript_exon_variant,,ENST00000513740,;MYL5,downstream_gene_variant,,ENST00000503300,;MFSD7,upstream_gene_variant,,ENST00000512400,;MYL5,downstream_gene_variant,,ENST00000513662,;MYL5,downstream_gene_variant,,ENST00000503612,;	uc003gay.2	c.176A>G	192/1826	4	4			c.176A>G						4	SNP	c.(175-177)GAG>GGG	47	47				0	Broad	major facilitator superfamily domain containing			680439		0.622	ENSG00000169026	9362	g.chr4:680439T>C	transmembrane transport	integral to membrane								121.851057	KEEP	24	22	-1	37	40	24	22	-1	123.293484	37	40	0.375	1	0	0	0	0	1	0	0	0	--	--		0	C			MFSD7_uc003gaw.2_5'Flank|MFSD7_uc003gax.2_Missense_Mutation_p.E59G|MFSD7_uc003gaz.2_Intron|MFSD7_uc003gba.2_Missense_Mutation_p.E59G|MFSD7_uc003gbb.1_5'UTR	237	GBM-32-2495-TP	p.E59G	T	GACCAAGTCCTCAGCAATGAC	NM_032219	NP_115595	680439	Q6UXD7	MFSD7_HUMAN	0			2	233	-	C	C			Missense_Mutation	59						
MFSD9	0	broad.mit.edu	GRCh37	2	103340253	103340253	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-14-0871-01	TCGA-14-0871-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258436.5:c.543C>G	p.Ile181Met	p.I181M	ENST00000258436	NM_032718.3	181	atC/atG	0			1			C	I/M	uc002tcb.2	protein_coding	YES	CCDS2063.1			543/1425									ovary(2)|breast(2)	4	c.(541-543)ATC>ATG			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24003:SF492,hmmpanther:PTHR24003,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473,Prints_domain:PR01035	major facilitator superfamily domain containing				ENSP00000258436		6-May									COSM3406737	6-May	.		ENST00000258436	Transcript			transmembrane transport	integral to membrane|plasma membrane	transporter activity	ENSG00000135953	g.chr2:103340253G>C	28158			MODERATE		1.95	medium	getma.org/?cm=msa&ty=f&p=MFSD9_HUMAN&rb=49&re=427&var=I181M	NA	getma.org/?cm=var&var=hg19,2,103340253,G,C&fts=all	I181M	--	--	1																																		MFSD9_uc010fja.2_RNA	1	1		probably_damaging(0.986)	p.I181M	NM_032718	NP_116107		deleterious(0)	1	MFSD9_HUMAN	MFSD9	HGNC	Q8NBP5	MFSD9_HUMAN			B4DKY6_HUMAN		5	611	-			UPI0000070215	181			Helical; (Potential).		SNV	MFSD9,missense_variant,p.Ile181Met,ENST00000258436,NM_032718.3;MFSD9,3_prime_UTR_variant,,ENST00000438943,;MFSD9,3_prime_UTR_variant,,ENST00000437075,;MFSD9,3_prime_UTR_variant,,ENST00000411991,;MFSD9,3_prime_UTR_variant,,ENST00000428085,;MFSD9,downstream_gene_variant,,ENST00000421966,;	uc002tcb.2	c.543C>G	587/4049	4	4			c.543C>G						2	SNP	c.(541-543)ATC>ATG	41	41			ovary(2)|breast(2)	4	Broad	major facilitator superfamily domain containing			103340253		0.502	ENSG00000135953	9364	g.chr2:103340253G>C	transmembrane transport	integral to membrane|plasma membrane	transporter activity							200.040254	KEEP	41	44	-1	189	183	41	44	-1	238.522099	189	183	0.184466	1	0	0	0	0	1	0	0	0	--	--		0	C			MFSD9_uc010fja.2_RNA	141	GBM-14-0871-TP	p.I181M	G	CGGGGCCCAAGATGAAGCCCA	NM_032718	NP_116107	103340253	Q8NBP5	MFSD9_HUMAN	0			5	611	-	C	C			Missense_Mutation	181			Helical; (Potential).			
MFSD9	0	broad.mit.edu	GRCh37	2	103335367	103335367	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6282-01	TCGA-76-6282-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258436.5:c.937C>T	p.Arg313Cys	p.R313C	ENST00000258436	NM_032718.3	313	Cgc/Tgc	0			1			A	R/C	uc002tcb.2	protein_coding	YES	CCDS2063.1			937/1425									ovary(2)|breast(2)	4	c.(937-939)CGC>TGC			PROSITE_profiles:PS50850,hmmpanther:PTHR24003:SF492,hmmpanther:PTHR24003,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	major facilitator superfamily domain containing				ENSP00000258436		6-Jun	8.24E-06					1.51E-05			rs757190136,COSM1398550	6-Jun	.		ENST00000258436	Transcript			transmembrane transport	integral to membrane|plasma membrane	transporter activity	ENSG00000135953	g.chr2:103335367G>A	28158			MODERATE		1.95	medium	getma.org/?cm=msa&ty=f&p=MFSD9_HUMAN&rb=49&re=427&var=R313C	NA	getma.org/?cm=var&var=hg19,2,103335367,G,A&fts=all	R313C	--	--	1																																		MFSD9_uc010fja.2_RNA	0,1	1		possibly_damaging(0.862)	p.R313C	NM_032718	NP_116107		deleterious(0)	0,1	MFSD9_HUMAN	MFSD9	HGNC	Q8NBP5	MFSD9_HUMAN			B4DKY6_HUMAN		6	1005	-			UPI0000070215	313					SNV	MFSD9,missense_variant,p.Arg313Cys,ENST00000258436,NM_032718.3;MFSD9,upstream_gene_variant,,ENST00000496253,;MFSD9,3_prime_UTR_variant,,ENST00000438943,;MFSD9,3_prime_UTR_variant,,ENST00000437075,;MFSD9,3_prime_UTR_variant,,ENST00000411991,;MFSD9,downstream_gene_variant,,ENST00000428085,;	uc002tcb.2	c.937C>T	981/4049	2	2			c.937C>T						2	SNP	c.(937-939)CGC>TGC	33	33			ovary(2)|breast(2)	4	Broad	major facilitator superfamily domain containing			103335367		0.587	ENSG00000135953	9364	g.chr2:103335367G>A	transmembrane transport	integral to membrane|plasma membrane	transporter activity							24.137179	KEEP	2	8	-1	8	23	2	8	-1	25.896728	8	23	0.27027	1	0	0	0	0	1	0	0	0	--	--		0	A			MFSD9_uc010fja.2_RNA	278	GBM-76-6282-TP	p.R313C	G	ACCCCAAAGCGCTCCTCCAGG	NM_032718	NP_116107	103335367	Q8NBP5	MFSD9_HUMAN	0			6	1005	-	A	A			Missense_Mutation	313						
MGA	23269	broad.mit.edu	GRCh37	15	42054376	42054376	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0221-01	TCGA-06-0221-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000219905.7:c.7560A>G	p.Lys2520=	p.K2520=	ENST00000219905	NM_001164273.1	2520	aaA/aaG	0			1			G	K	uc010ucy.1	protein_coding	YES	CCDS55959.1			7560/9198									ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12	c.(7558-7560)AAA>AAG			hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF32	MAX-interacting protein isoform 1				ENSP00000219905		22/24									COSM3401717	22/24	.		ENST00000219905	Transcript				MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000174197	g.chr15:42054376A>G	14010			LOW								--	--	1																																		MGA_uc010ucz.1_Silent_p.K2311K|MGA_uc010uda.1_Silent_p.K1136K	1	1			p.K2520K	NM_001164273	NP_001157745			1	MGAP_HUMAN	MGA	HGNC	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	H3BTF4_HUMAN,H3BP52_HUMAN		22	7741	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	UPI0001B2337E	2481					SNV	MGA,synonymous_variant,p.=,ENST00000219905,NM_001164273.1;MGA,synonymous_variant,p.=,ENST00000389936,;MGA,synonymous_variant,p.=,ENST00000570161,;MGA,synonymous_variant,p.=,ENST00000545763,NM_001080541.2;MGA,synonymous_variant,p.=,ENST00000566586,;MGA,synonymous_variant,p.=,ENST00000564190,;MGA,non_coding_transcript_exon_variant,,ENST00000568255,;	uc010ucy.1	c.7560A>G	7741/12042	3	3			c.7560A>G						15	SNP	c.(7558-7560)AAA>AAG	9	9			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12	Broad	MAX-interacting protein isoform 1			42054376		0.383	ENSG00000174197	9365	g.chr15:42054376A>G		MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			606			606	30.028236	KEEP	4	6	-1	20	17	4	6	-1	32.660245	20	17	0.238095	1	0	0	0	0	0	0	1	0	--	--		0	G			MGA_uc010ucz.1_Silent_p.K2311K|MGA_uc010uda.1_Silent_p.K1136K	53	GBM-06-0221-TP	p.K2520K	A	TTTATGCAAAACAGCAAGCAC	NM_001164273	NP_001157745	42054376	Q8IWI9	MGAP_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	22	7741	+	G	G		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	Silent	2481						
MGA	0	broad.mit.edu	GRCh37	15	42032290	42032290	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01	TCGA-12-1597-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000219905.7:c.4474C>T	p.Arg1492Cys	p.R1492C	ENST00000219905	NM_001164273.1	1492	Cgt/Tgt	0			1			T	R/C	uc010ucy.1	protein_coding	YES	CCDS55959.1			4474/9198									ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12	c.(4474-4476)CGT>TGT			hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF32	MAX-interacting protein isoform 1				ENSP00000219905		14/24	8.27E-06					1.50E-05			rs778522495,COSM433833	14/24	.		ENST00000219905	Transcript				MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000174197	g.chr15:42032290C>T	14010			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=MGAP_HUMAN&rb=594&re=1938&var=R1492C	NA	getma.org/?cm=var&var=hg19,15,42032290,C,T&fts=all	R1492C	--	--	1																																		MGA_uc010ucz.1_Missense_Mutation_p.R1492C|MGA_uc010uda.1_Missense_Mutation_p.R108C	0,1	1		probably_damaging(0.962)	p.R1492C	NM_001164273	NP_001157745		deleterious(0.01)	0,1	MGAP_HUMAN	MGA	HGNC	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	H3BTF4_HUMAN,H3BP52_HUMAN		14	4655	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	UPI0001B2337E	1492					SNV	MGA,missense_variant,p.Arg1492Cys,ENST00000219905,NM_001164273.1;MGA,missense_variant,p.Arg1492Cys,ENST00000389936,;MGA,missense_variant,p.Arg1492Cys,ENST00000570161,;MGA,missense_variant,p.Arg1492Cys,ENST00000545763,NM_001080541.2;MGA,missense_variant,p.Arg1492Cys,ENST00000566586,;MGA,missense_variant,p.Arg140Cys,ENST00000564190,;	uc010ucy.1	c.4474C>T	4655/12042	2	2			c.4474C>T						15	SNP	c.(4474-4476)CGT>TGT	21	21			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12	Broad	MAX-interacting protein isoform 1			42032290		0.532	ENSG00000174197	9365	g.chr15:42032290C>T		MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			606			606	30.940624	KEEP	8	10	-1	53	39	8	10	-1	41.944659	53	39	0.16	1	0	0	0	0	1	0	0	0	--	--		0	T			MGA_uc010ucz.1_Missense_Mutation_p.R1492C|MGA_uc010uda.1_Missense_Mutation_p.R108C	124	GBM-12-1597-TP	p.R1492C	C	CAGGAAACCACGTACCCTGTT	NM_001164273	NP_001157745	42032290	Q8IWI9	MGAP_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	14	4655	+	T	T		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	Missense_Mutation	1492						
MGA	0	broad.mit.edu	GRCh37	15	42058284	42058284	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-5208-01	TCGA-28-5208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000219905.7:c.8004C>T	p.Gly2668=	p.G2668=	ENST00000219905	NM_001164273.1	2668	ggC/ggT	0			1			T	G	uc010ucy.1	protein_coding	YES	CCDS55959.1			8004/9198									ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12	c.(8002-8004)GGC>GGT			hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF32	MAX-interacting protein isoform 1				ENSP00000219905		24/24									COSM3401718	24/24	.		ENST00000219905	Transcript				MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000174197	g.chr15:42058284C>T	14010			LOW								--	--	1																																		MGA_uc010ucz.1_Silent_p.G2459G	1	1			p.G2668G	NM_001164273	NP_001157745			1	MGAP_HUMAN	MGA	HGNC	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	H3BTF4_HUMAN,H3BP52_HUMAN		24	8185	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	UPI0001B2337E	2629					SNV	MGA,synonymous_variant,p.=,ENST00000219905,NM_001164273.1;MGA,synonymous_variant,p.=,ENST00000389936,;MGA,synonymous_variant,p.=,ENST00000570161,;MGA,synonymous_variant,p.=,ENST00000545763,NM_001080541.2;MGA,synonymous_variant,p.=,ENST00000566586,;MGA,downstream_gene_variant,,ENST00000564190,;RP11-107F6.3,downstream_gene_variant,,ENST00000562063,;RP11-107F6.3,downstream_gene_variant,,ENST00000607504,;MGA,downstream_gene_variant,,ENST00000568255,;	uc010ucy.1	c.8004C>T	8185/12042	2	2			c.8004C>T						15	SNP	c.(8002-8004)GGC>GGT	21	21			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12	Broad	MAX-interacting protein isoform 1			42058284		0.393	ENSG00000174197	9365	g.chr15:42058284C>T		MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			606			606	160.484415	KEEP	26	40	-1	68	45	26	40	-1	162.825481	68	45	0.373494	1	0	0	0	0	0	0	1	0	--	--		0	T			MGA_uc010ucz.1_Silent_p.G2459G	217	GBM-28-5208-TP	p.G2668G	C	ATATGGGTGGCAGCAAATATC	NM_001164273	NP_001157745	42058284	Q8IWI9	MGAP_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	24	8185	+	T	T		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	Silent	2629						
MGAM	8972	broad.mit.edu	GRCh37	7	141759688	141759688	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0128-01	TCGA-06-0128-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000549489.2:c.3981T>C	p.Pro1327=	p.P1327=	ENST00000549489	NM_004668.2	1327	ccT/ccC	0			1			C	P	uc003vwy.2	protein_coding	YES	CCDS47727.1			3981/5574									ovary(2)	2	c.(3979-3981)CCT>CCC			Superfamily_domains:SSF51445,Pfam_domain:PF01055	maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)			ENSP00000447378		33/48	0.000314	0.000545	0.000837	0.00029	0.0002	0.000317			rs753415952,COSM245671,COSM1548448,COSM245672	33/48	common_variant		ENST00000549489	Transcript			polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	ENSG00000257335	g.chr7:141759688T>C	7043			LOW								--	--	1																																			0,1,1,1	1			p.P1327P	NM_004668	NP_004659			0,1,1,1	MGA_HUMAN	MGAM	HGNC	O43451	MGA_HUMAN			Q8TE25_HUMAN,E9PEQ5_HUMAN,E7EW87_HUMAN		33	4035	+	Melanoma(164;0.0272)		UPI000183CB7B	1327			Glucoamylase.|Lumenal (Potential).		SNV	MGAM,synonymous_variant,p.=,ENST00000475668,;MGAM,synonymous_variant,p.=,ENST00000549489,NM_004668.2;	uc003vwy.2	c.3981T>C	4076/6525	3	3			c.3981T>C						7	SNP	c.(3979-3981)CCT>CCC	10	10			ovary(2)	2	Broad	maltase-glucoamylase		Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	141759688		0.463	ENSG00000257335	9366	g.chr7:141759688T>C	polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity							1.190519	KEEP	3	0	-1	22	23	3	0	-1	8.870873	22	23	0.073171	1	0	0	0	0	0	0	1	0	--	--		0	C				14	GBM-06-0128-TP	p.P1327P	T	AGACACAGCCTTATCCTGCCT	NM_004668	NP_004659	141759688	O43451	MGA_HUMAN	0			33	4035	+	C	C	Melanoma(164;0.0272)		Silent	1327			Glucoamylase.|Lumenal (Potential).			
MGAM	0	broad.mit.edu	GRCh37	7	141759688	141759688	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-14-1825-01	TCGA-14-1825-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000549489.2:c.3981T>C	p.Pro1327=	p.P1327=	ENST00000549489	NM_004668.2	1327	ccT/ccC	0			1			C	P	uc003vwy.2	protein_coding	YES	CCDS47727.1			3981/5574									ovary(2)	2	c.(3979-3981)CCT>CCC			Superfamily_domains:SSF51445,Pfam_domain:PF01055	maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)			ENSP00000447378		33/48	0.000314	0.000545	0.000837	0.00029	0.0002	0.000317			rs753415952,COSM245671,COSM1548448,COSM245672	33/48	common_variant		ENST00000549489	Transcript			polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	ENSG00000257335	g.chr7:141759688T>C	7043			LOW								--	--	1																																			0,1,1,1	1			p.P1327P	NM_004668	NP_004659			0,1,1,1	MGA_HUMAN	MGAM	HGNC	O43451	MGA_HUMAN			Q8TE25_HUMAN,E9PEQ5_HUMAN,E7EW87_HUMAN		33	4035	+	Melanoma(164;0.0272)		UPI000183CB7B	1327			Glucoamylase.|Lumenal (Potential).		SNV	MGAM,synonymous_variant,p.=,ENST00000475668,;MGAM,synonymous_variant,p.=,ENST00000549489,NM_004668.2;	uc003vwy.2	c.3981T>C	4076/6525	3	3			c.3981T>C						7	SNP	c.(3979-3981)CCT>CCC	10	10			ovary(2)	2	Broad	maltase-glucoamylase		Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	141759688		0.463	ENSG00000257335	9366	g.chr7:141759688T>C	polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity							3.002704	KEEP	3	1	-1	20	16	3	1	-1	8.56641	20	16	0.090909	1	0	0	0	0	0	0	1	0	--	--		0	C				148	GBM-14-1825-TP	p.P1327P	T	AGACACAGCCTTATCCTGCCT	NM_004668	NP_004659	141759688	O43451	MGA_HUMAN	0			33	4035	+	C	C	Melanoma(164;0.0272)		Silent	1327			Glucoamylase.|Lumenal (Potential).			
MGAM	0	broad.mit.edu	GRCh37	7	141747587	141747587	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1986-01	TCGA-32-1986-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000549489.2:c.2501G>A	p.Arg834Gln	p.R834Q	ENST00000549489	NM_004668.2	834	cGa/cAa	0			1			A	R/Q	uc003vwy.2	protein_coding	YES	CCDS47727.1			2501/5574									ovary(2)	2	c.(2500-2502)CGA>CAA			hmmpanther:PTHR22762:SF63,hmmpanther:PTHR22762	maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)			ENSP00000447378		22/48	2.48E-05					3.02E-05		6.12E-05	rs778528944,COSM599597,COSM599596,COSM599595	22/48	.		ENST00000549489	Transcript			polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	ENSG00000257335	g.chr7:141747587G>A	7043			MODERATE		3.69	high	getma.org/?cm=msa&ty=f&p=MGA_HUMAN&rb=822&re=956&var=R834Q	getma.org/pdb.php?prot=MGA_HUMAN&from=822&to=956&var=R834Q	getma.org/?cm=var&var=hg19,7,141747587,G,A&fts=all	R834Q	--	--	1																																			0,1,1,1	1		probably_damaging(0.977)	p.R834Q	NM_004668	NP_004659		deleterious(0)	0,1,1,1	MGA_HUMAN	MGAM	HGNC	O43451	MGA_HUMAN			Q8TE25_HUMAN,E9PEQ5_HUMAN,E7EW87_HUMAN		22	2555	+	Melanoma(164;0.0272)		UPI000183CB7B	834			Lumenal (Potential).|Maltase.		SNV	MGAM,missense_variant,p.Arg834Gln,ENST00000475668,;MGAM,missense_variant,p.Arg834Gln,ENST00000549489,NM_004668.2;	uc003vwy.2	c.2501G>A	2596/6525	1	1			c.2501G>A						7	SNP	c.(2500-2502)CGA>CAA	51	51			ovary(2)	2	Broad	maltase-glucoamylase		Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	141747587		0.413	ENSG00000257335	9366	g.chr7:141747587G>A	polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity							21.13376	KEEP	8	6	-1	36	59	8	6	-1	32.770934	36	59	0.139785	1	0	0	0	0	1	0	0	0	--	--		0	A				233	GBM-32-1986-TP	p.R834Q	G	CCCCACAGTCGAAAGAACCCT	NM_004668	NP_004659	141747587	O43451	MGA_HUMAN	0			22	2555	+	A	A	Melanoma(164;0.0272)		Missense_Mutation	834			Lumenal (Potential).|Maltase.			
MGAT2	0	broad.mit.edu	GRCh37	14	50089072	50089072	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-87-5896-01	TCGA-87-5896-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305386.2:c.1086G>A	p.Trp362Ter	p.W362*	ENST00000305386	NM_002408.3	362	tgG/tgA	0			1			A	W/*	uc001wwr.2	protein_coding	YES	CCDS9690.1			1086/1344										0	c.(1084-1086)TGG>TGA			Gene3D:3.90.550.10,Pfam_domain:PF05060,hmmpanther:PTHR12871,hmmpanther:PTHR12871:SF0,Superfamily_domains:SSF53448	mannosyl (alpha-1,6-)-glycoprotein				ENSP00000307423		1-Jan									COSM3401329	1-Jan	.		ENST00000305386	Transcript	1		oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity	ENSG00000168282	g.chr14:50089072G>A	7045			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,14,50089072,G,A&fts=all	W362*	--	--	1																																		SDCCAG1_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank	1	1			p.W362*	NM_002408	NP_002399			1	MGAT2_HUMAN	MGAT2	HGNC	Q10469	MGAT2_HUMAN			B4DDK9_HUMAN		1	1584	+	all_epithelial(31;0.0021)|Breast(41;0.0124)		UPI000012B8CA	362			Lumenal (Potential).		SNV	MGAT2,stop_gained,p.Trp362Ter,ENST00000305386,NM_002408.3;DNAAF2,downstream_gene_variant,,ENST00000298292,NM_018139.2;DNAAF2,downstream_gene_variant,,ENST00000406043,NM_001083908.1;RPL36AL,upstream_gene_variant,,ENST00000298289,NM_001001.4;RP11-649E7.5,non_coding_transcript_exon_variant,,ENST00000555043,;	uc001wwr.2	c.1086G>A	1584/2710	5	2			c.1086G>A						14	SNP	c.(1084-1086)TGG>TGA	20	20				0	Broad	mannosyl (alpha-1,6-)-glycoprotein			50089072		0.423	ENSG00000168282	9368	g.chr14:50089072G>A	oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity							116.402148	KEEP	18	29	-1	32	46	18	29	-1	118.560918	32	46	0.351351	1	0	0	0	0	0	1	0	0	--	--		0	A			SDCCAG1_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank	291	GBM-87-5896-TP	p.W362*	G	CAAAATTCTGGAAAGTGCTGG	NM_002408	NP_002399	50089072	Q10469	MGAT2_HUMAN	0			1	1584	+	A	A	all_epithelial(31;0.0021)|Breast(41;0.0124)		Nonsense_Mutation	362			Lumenal (Potential).			
MGAT4C	25834	broad.mit.edu	GRCh37	12	86374059	86374059	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0879-01	TCGA-06-0879-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000604798.1:c.445C>T	p.Arg149Cys	p.R149C	ENST00000604798		149	Cgt/Tgt	0		A:0.0008	1	A:0		A	R/C	uc001tai.3	protein_coding		CCDS9030.1			445/1437									ovary(3)	3	c.(445-447)CGT>TGT			Pfam_domain:PF04666,hmmpanther:PTHR12062:SF8,hmmpanther:PTHR12062	alpha-1,3-mannosyl-glycoprotein		A:0		ENSP00000447253	A:0	4-Apr	1.65E-05	9.63E-05				1.50E-05			rs566418071,COSM1364661	4-Apr	.		ENST00000548651	Transcript		A:0.0002	post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	ENSG00000182050	g.chr12:86374059G>A	30871			MODERATE		-0.46	neutral	getma.org/?cm=msa&ty=f&p=MGT4C_HUMAN&rb=44&re=330&var=R149C	NA	getma.org/?cm=var&var=hg19,12,86374059,G,A&fts=all	R149C	--	--	1																																		MGAT4C_uc001tal.3_Missense_Mutation_p.R149C|MGAT4C_uc001taj.3_Missense_Mutation_p.R149C|MGAT4C_uc001tak.3_Missense_Mutation_p.R149C|MGAT4C_uc010sum.1_Missense_Mutation_p.R173C|MGAT4C_uc001tah.3_Missense_Mutation_p.R149C	0,1			benign(0.002)	p.R149C	NM_013244	NP_037376	A:0	tolerated(0.25)	0,1	MGT4C_HUMAN	MGAT4C	HGNC	Q9UBM8	MGT4C_HUMAN			F8VWY2_HUMAN		8	1695	-			UPI00001B002C	149			Lumenal (Potential).		SNV	MGAT4C,missense_variant,p.Arg149Cys,ENST00000604798,;MGAT4C,missense_variant,p.Arg149Cys,ENST00000332156,;MGAT4C,missense_variant,p.Arg149Cys,ENST00000549405,;MGAT4C,missense_variant,p.Arg178Cys,ENST00000393205,;MGAT4C,missense_variant,p.Arg149Cys,ENST00000552808,;MGAT4C,missense_variant,p.Arg149Cys,ENST00000548651,NM_013244.3;MGAT4C,missense_variant,p.Arg149Cys,ENST00000547225,;MGAT4C,intron_variant,,ENST00000552435,;	uc001tai.3	c.445C>T	501/1523	2	2			c.445C>T						12	SNP	c.(445-447)CGT>TGT	48	48			ovary(3)	3	Broad	alpha-1,3-mannosyl-glycoprotein			86374059		0.398	ENSG00000182050	9372	g.chr12:86374059G>A	post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding							177.675004	KEEP	34	32	-1	59	61	34	32	-1	180.484319	59	61	0.364162	1	0	0	0	0	1	0	0	0	--	--		0	A			MGAT4C_uc001tal.3_Missense_Mutation_p.R149C|MGAT4C_uc001taj.3_Missense_Mutation_p.R149C|MGAT4C_uc001tak.3_Missense_Mutation_p.R149C|MGAT4C_uc010sum.1_Missense_Mutation_p.R173C|MGAT4C_uc001tah.3_Missense_Mutation_p.R149C	75	GBM-06-0879-TP	p.R149C	G	ATGGCATCACGCCAGGAAGAA	NM_013244	NP_037376	86374059	Q9UBM8	MGT4C_HUMAN	0			8	1695	-	A	A			Missense_Mutation	149			Lumenal (Potential).			
MGAT4C	0	broad.mit.edu	GRCh37	12	86373908	86373908	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01	TCGA-14-0790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000548651.1:c.596G>A	p.Arg199His	p.R199H	ENST00000548651	NM_013244.3	199	cGt/cAt	0			1			T	R/H	uc001tai.3	protein_coding		CCDS9030.1			596/1437									ovary(3)	3	c.(595-597)CGT>CAT			Pfam_domain:PF04666,hmmpanther:PTHR12062:SF8,hmmpanther:PTHR12062	alpha-1,3-mannosyl-glycoprotein				ENSP00000447253		4-Apr	8.24E-06					1.50E-05			rs770702724,COSM3399161	4-Apr	.		ENST00000548651	Transcript			post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	ENSG00000182050	g.chr12:86373908C>T	30871			MODERATE		2.425	medium	getma.org/?cm=msa&ty=f&p=MGT4C_HUMAN&rb=44&re=330&var=R199H	NA	getma.org/?cm=var&var=hg19,12,86373908,C,T&fts=all	R199H	--	--	1																																		MGAT4C_uc001tal.3_Missense_Mutation_p.R199H|MGAT4C_uc001taj.3_Missense_Mutation_p.R199H|MGAT4C_uc001tak.3_Missense_Mutation_p.R199H|MGAT4C_uc010sum.1_Missense_Mutation_p.R223H|MGAT4C_uc001tah.3_Missense_Mutation_p.R199H	0,1			probably_damaging(1)	p.R199H	NM_013244	NP_037376		deleterious(0)	0,1	MGT4C_HUMAN	MGAT4C	HGNC	Q9UBM8	MGT4C_HUMAN			F8VWY2_HUMAN		8	1846	-			UPI00001B002C	199			Lumenal (Potential).		SNV	MGAT4C,missense_variant,p.Arg199His,ENST00000604798,;MGAT4C,missense_variant,p.Arg199His,ENST00000332156,;MGAT4C,missense_variant,p.Arg199His,ENST00000549405,;MGAT4C,missense_variant,p.Arg228His,ENST00000393205,;MGAT4C,missense_variant,p.Arg199His,ENST00000552808,;MGAT4C,missense_variant,p.Arg199His,ENST00000548651,NM_013244.3;MGAT4C,missense_variant,p.Arg199His,ENST00000547225,;MGAT4C,intron_variant,,ENST00000552435,;	uc001tai.3	c.596G>A	652/1523	2	2			c.596G>A						12	SNP	c.(595-597)CGT>CAT	46	46			ovary(3)	3	Broad	alpha-1,3-mannosyl-glycoprotein			86373908		0.338	ENSG00000182050	9372	g.chr12:86373908C>T	post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding							-94.116307	KEEP	7	1	-1	204	219	7	1	-1	10.958153	204	219	0.0175	1	0	0	0	0	1	0	0	0	--	--		0	T			MGAT4C_uc001tal.3_Missense_Mutation_p.R199H|MGAT4C_uc001taj.3_Missense_Mutation_p.R199H|MGAT4C_uc001tak.3_Missense_Mutation_p.R199H|MGAT4C_uc010sum.1_Missense_Mutation_p.R223H|MGAT4C_uc001tah.3_Missense_Mutation_p.R199H	137	GBM-14-0790-TP	p.R199H	C	TTGCTTGGAACGAAATTTGAC	NM_013244	NP_037376	86373908	Q9UBM8	MGT4C_HUMAN	0			8	1846	-	T	T			Missense_Mutation	199			Lumenal (Potential).			
MGAT4C	0	broad.mit.edu	GRCh37	12	86373320	86373324	+	frameshift_variant	Frame_Shift_Del	DEL	TTTAC	TTTAC	-			TCGA-19-2623-01	TCGA-19-2623-01	TTTAC	TTTAC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000548651.1:c.1180_1184delGTAAA	p.Val394TyrfsTer9	p.V394Yfs*9	ENST00000548651	NM_013244.3	394	GTAAAt/t	0			1			-	VN/X	uc001tai.3	protein_coding		CCDS9030.1			1180-1184/1437									ovary(3)	3	c.(1180-1185)GTAAATfs			hmmpanther:PTHR12062:SF8,hmmpanther:PTHR12062	alpha-1,3-mannosyl-glycoprotein				ENSP00000447253		4-Apr	8.24E-06					1.57E-05			rs770864945	4-Apr	.		ENST00000548651	Transcript			post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	ENSG00000182050	g.chr12:86373320_86373324delTTTAC	30871			HIGH								--	--	1																																		MGAT4C_uc001tal.3_Frame_Shift_Del_p.V394fs|MGAT4C_uc001taj.3_Frame_Shift_Del_p.V394fs|MGAT4C_uc001tak.3_Frame_Shift_Del_p.V394fs|MGAT4C_uc010sum.1_Frame_Shift_Del_p.V418fs|MGAT4C_uc001tah.3_Frame_Shift_Del_p.V394fs					p.V394fs	NM_013244	NP_037376				MGT4C_HUMAN	MGAT4C	HGNC	Q9UBM8	MGT4C_HUMAN			F8VWY2_HUMAN		8	2430_2434	-			UPI00001B002C	394_395			Lumenal (Potential).		deletion	MGAT4C,frameshift_variant,p.Val394TyrfsTer9,ENST00000604798,;MGAT4C,frameshift_variant,p.Val394TyrfsTer9,ENST00000332156,;MGAT4C,frameshift_variant,p.Val394TyrfsTer9,ENST00000549405,;MGAT4C,frameshift_variant,p.Val423TyrfsTer9,ENST00000393205,;MGAT4C,frameshift_variant,p.Val394TyrfsTer9,ENST00000552808,;MGAT4C,frameshift_variant,p.Val394TyrfsTer9,ENST00000548651,NM_013244.3;MGAT4C,frameshift_variant,p.Val394TyrfsTer?,ENST00000547225,;MGAT4C,downstream_gene_variant,,ENST00000552435,;	uc001tai.3	c.1180_1184delGTAAA	1236-1240/1523	5	5			c.1180_1184delGTAAA						12	DEL	c.(1180-1185)GTAAATfs	41	41			ovary(3)	3	Broad	alpha-1,3-mannosyl-glycoprotein			86373324		0.346	ENSG00000182050	9372	g.chr12:86373320_86373324delTTTAC	post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding																				0.46	1	1	0	1	0	0	0	0	0	--	--		0	-			MGAT4C_uc001tal.3_Frame_Shift_Del_p.V394fs|MGAT4C_uc001taj.3_Frame_Shift_Del_p.V394fs|MGAT4C_uc001tak.3_Frame_Shift_Del_p.V394fs|MGAT4C_uc010sum.1_Frame_Shift_Del_p.V418fs|MGAT4C_uc001tah.3_Frame_Shift_Del_p.V394fs	163	GBM-19-2623-TP	p.V394fs	TTTAC	TGTTCCAGTATTTACtttaattttt	NM_013244	NP_037376	86373320	Q9UBM8	MGT4C_HUMAN	0			8	2430_2434	-	-	-			Frame_Shift_Del	394_395			Lumenal (Potential).			
MGAT5	4249	broad.mit.edu	GRCh37	2	135107438	135107438	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01	TCGA-06-0939-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409645.1:c.1175C>T	p.Ala392Val	p.A392V	ENST00000409645		392	gCc/gTc	0			1			T	A/V	uc002ttv.1	protein_coding		CCDS2171.1			1175/2226									ovary(2)|skin(1)	3	c.(1174-1176)GCC>GTC			Pfam_domain:PF15024,hmmpanther:PTHR15075,hmmpanther:PTHR15075:SF3	N-acetylglucosaminyltransferase V				ENSP00000281923		16-Sep									COSM3406877	16-Sep	.		ENST00000281923	Transcript			post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	ENSG00000152127	g.chr2:135107438C>T	7049			MODERATE		1.93	medium	getma.org/?cm=msa&ty=f&p=MGT5A_HUMAN&rb=1&re=739&var=A392V	NA	getma.org/?cm=var&var=hg19,2,135107438,C,T&fts=all	A392V	--	--	1																																			1			possibly_damaging(0.891)	p.A392V	NM_002410	NP_002401		deleterious(0)	1	MGT5A_HUMAN	MGAT5	HGNC	Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	Q71VM6_HUMAN,Q53SZ9_HUMAN,Q53SV8_HUMAN,Q53SM9_HUMAN		9	1320	+			UPI0000049D8F	392			Lumenal (Potential).		SNV	MGAT5,missense_variant,p.Ala392Val,ENST00000409645,;MGAT5,missense_variant,p.Ala392Val,ENST00000281923,NM_002410.4;	uc002ttv.1	c.1175C>T	1320/2421	2	2			c.1175C>T						2	SNP	c.(1174-1176)GCC>GTC	20	20			ovary(2)|skin(1)	3	Broad	N-acetylglucosaminyltransferase V			135107438		0.413	ENSG00000152127	9373	g.chr2:135107438C>T	post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity							-39.923161	KEEP	3	3	-1	110	116	3	3	-1	10.584579	110	116	0.028986	1	0	0	0	0	1	0	0	0	--	--		0	T				78	GBM-06-0939-TP	p.A392V	C	GCAAATTATGCCCAATCGAAA	NM_002410	NP_002401	135107438	Q09328	MGT5A_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.0964)	9	1320	+	T	T			Missense_Mutation	392			Lumenal (Potential).			
MGAT5B	146664	broad.mit.edu	GRCh37	17	74936837	74936837	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-02-0055-01	TCGA-02-0055-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428789.2:c.1782G>A	p.Ala594=	p.A594=	ENST00000428789	NM_198955.1	594	gcG/gcA	0		A:0.0008	1	A:0		A	A	uc002jti.2	protein_coding		CCDS59299.1			1755/2379									ovary(2)|skin(1)	3	c.(1780-1782)GCG>GCA			hmmpanther:PTHR15075:SF4,hmmpanther:PTHR15075,Pfam_domain:PF15024	N-acetylglucosaminyltranferase VB isoform 2		A:0		ENSP00000456037	A:0	15/18	2.47E-05	9.67E-05				1.50E-05		6.06E-05	rs187745988,COSM3403249,COSM3403248	15/18	.		ENST00000569840	Transcript		A:0.0002		Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	ENSG00000167889	g.chr17:74936837G>A	24140			LOW								--	--	1																																		MGAT5B_uc002jth.2_Silent_p.A583A	0,1,1				p.A594A	NM_198955	NP_945193	A:0		0,1,1	MGT5B_HUMAN	MGAT5B	HGNC	Q3V5L5	MGT5B_HUMAN			H3BR20_HUMAN		13	1885	+			UPI00001BFAF5	585			Lumenal (Potential).		SNV	MGAT5B,synonymous_variant,p.=,ENST00000569840,NM_001199172.1;MGAT5B,synonymous_variant,p.=,ENST00000301618,NM_144677.2;MGAT5B,synonymous_variant,p.=,ENST00000428789,NM_198955.1;MGAT5B,upstream_gene_variant,,ENST00000563153,;MGAT5B,3_prime_UTR_variant,,ENST00000565043,;	uc002jti.2	c.1782G>A	2329/4492	2	2			c.1782G>A						17	SNP	c.(1780-1782)GCG>GCA	42	42			ovary(2)|skin(1)	3	Broad	N-acetylglucosaminyltranferase VB isoform 2			74936837		0.552	ENSG00000167889	9374	g.chr17:74936837G>A		Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding							-23.178885	KEEP	2	4	-1	77	85	2	4	-1	12.444088	77	85	0.03871	1	0	0	0	0	0	0	1	0	--	--		0	A			MGAT5B_uc002jth.2_Silent_p.A583A	4	GBM-02-0055-TP	p.A594A	G	ATCCCTACGCGGAGAACTTCA	NM_198955	NP_945193	74936837	Q3V5L5	MGT5B_HUMAN	0			13	1885	+	A	A			Silent	585			Lumenal (Potential).			
MGAT5B	146664	broad.mit.edu	GRCh37	17	74900424	74900424	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01	TCGA-06-0649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428789.2:c.643G>A	p.Val215Ile	p.V215I	ENST00000428789	NM_198955.1	215	Gtc/Atc	0			1			A	V/I	uc002jti.2	protein_coding		CCDS59299.1			610/2379									ovary(2)|skin(1)	3	c.(643-645)GTC>ATC			hmmpanther:PTHR15075:SF4,hmmpanther:PTHR15075,Pfam_domain:PF15024	N-acetylglucosaminyltranferase VB isoform 2				ENSP00000456037		18-Jun									COSM3403247,COSM3403246	18-Jun	.		ENST00000569840	Transcript				Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	ENSG00000167889	g.chr17:74900424G>A	24140			MODERATE		0.99	low	getma.org/?cm=msa&ty=f&p=MGT5B_HUMAN&rb=1&re=790&var=V204I	NA	getma.org/?cm=var&var=hg19,17,74900424,G,A&fts=all	V204I	--	--	1																																		MGAT5B_uc002jth.2_Missense_Mutation_p.V204I	1,1			benign(0.015)	p.V215I	NM_198955	NP_945193		tolerated(0.17)	1,1	MGT5B_HUMAN	MGAT5B	HGNC	Q3V5L5	MGT5B_HUMAN			H3BR20_HUMAN		5	746	+			UPI00001BFAF5	204			Lumenal (Potential).		SNV	MGAT5B,missense_variant,p.Val204Ile,ENST00000569840,NM_001199172.1;MGAT5B,missense_variant,p.Val204Ile,ENST00000301618,NM_144677.2;MGAT5B,missense_variant,p.Val215Ile,ENST00000428789,NM_198955.1;MGAT5B,non_coding_transcript_exon_variant,,ENST00000374998,;MGAT5B,missense_variant,p.Val215Ile,ENST00000565043,;	uc002jti.2	c.643G>A	1184/4492	2	2			c.643G>A						17	SNP	c.(643-645)GTC>ATC	41	41			ovary(2)|skin(1)	3	Broad	N-acetylglucosaminyltranferase VB isoform 2			74900424		0.662	ENSG00000167889	9374	g.chr17:74900424G>A		Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding							24.941189	KEEP	4	7	-1	8	3	4	7	-1	24.952139	8	3	0.526316	1	0	0	0	0	1	0	0	0	--	--		0	A			MGAT5B_uc002jth.2_Missense_Mutation_p.V204I	62	GBM-06-0649-TP	p.V215I	G	CCTCAGTGAGGTCGAGTGGTT	NM_198955	NP_945193	74900424	Q3V5L5	MGT5B_HUMAN	0			5	746	+	A	A			Missense_Mutation	204			Lumenal (Potential).			
MGEA5	0	broad.mit.edu	GRCh37	10	103557792	103557792	+	stop_gained	Nonsense_Mutation	SNP	A	A	C			TCGA-12-0821-01	TCGA-12-0821-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361464.3:c.1929T>G	p.Tyr643Ter	p.Y643*	ENST00000361464	NM_012215.3	643	taT/taG	0			1			C	Y/*	uc001ktv.2	protein_coding	YES	CCDS7520.1			1929/2751									ovary(2)|skin(1)	3	c.(1927-1929)TAT>TAG			hmmpanther:PTHR13170,hmmpanther:PTHR13170:SF16	meningioma expressed antigen 5 (hyaluronidase)				ENSP00000354850		16-Oct									COSM3396881,COSM3396882	16-Oct	.		ENST00000361464	Transcript			glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	ENSG00000198408	g.chr10:103557792A>C	7056			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,10,103557792,A,C&fts=all	Y643*	--	--	1																																		MGEA5_uc001ktu.2_RNA|MGEA5_uc010qqe.1_Nonsense_Mutation_p.Y590*|MGEA5_uc009xws.2_Nonsense_Mutation_p.Y590*|MGEA5_uc001ktw.2_Nonsense_Mutation_p.Y643*	1,1	1			p.Y643*	NM_012215	NP_036347			1,1	NCOAT_HUMAN	MGEA5	HGNC	O60502	NCOAT_HUMAN		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)	B3KMK2_HUMAN		10	2372	-		Colorectal(252;0.207)	UPI0000073533	643			Histone acetyltransferase activity (By similarity).		SNV	MGEA5,stop_gained,p.Tyr643Ter,ENST00000361464,NM_012215.3;MGEA5,stop_gained,p.Tyr590Ter,ENST00000439817,NM_001142434.1;MGEA5,stop_gained,p.Tyr643Ter,ENST00000370094,;MGEA5,stop_gained,p.Tyr590Ter,ENST00000357797,;MGEA5,non_coding_transcript_exon_variant,,ENST00000482611,;MGEA5,upstream_gene_variant,,ENST00000479811,;MGEA5,upstream_gene_variant,,ENST00000492204,;	uc001ktv.2	c.1929T>G	2325/5146	5	3			c.1929T>G						10	SNP	c.(1927-1929)TAT>TAG	1	1			ovary(2)|skin(1)	3	Broad	meningioma expressed antigen 5 (hyaluronidase)			103557792		0.418	ENSG00000198408	9378	g.chr10:103557792A>C	glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity							433.519691	KEEP	77	50	-1	17	8	77	50	-1	448.066572	17	8	0.833333	1	0	0	0	0	0	1	0	0	--	--		0	C			MGEA5_uc001ktu.2_RNA|MGEA5_uc010qqe.1_Nonsense_Mutation_p.Y590*|MGEA5_uc009xws.2_Nonsense_Mutation_p.Y590*|MGEA5_uc001ktw.2_Nonsense_Mutation_p.Y643*	123	GBM-12-0821-TP	p.Y643*	A	TATCCCAAACATAGGAGTACA	NM_012215	NP_036347	103557792	O60502	NCOAT_HUMAN	0		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)	10	2372	-	C	C		Colorectal(252;0.207)	Nonsense_Mutation	643			Histone acetyltransferase activity (By similarity).			
MGME1	0	broad.mit.edu	GRCh37	20	17950509	17950509	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-2625-01	TCGA-19-2625-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377710.5:c.7A>G	p.Met3Val	p.M3V	ENST00000377710	NM_052865.2	3	Atg/Gtg	0			1			G	M/V	uc002wqh.2	protein_coding	YES	CCDS13131.1			7/1035										0	c.(7-9)ATG>GTG			hmmpanther:PTHR31340:SF3,hmmpanther:PTHR31340,PROSITE_profiles:PS51257	hypothetical protein LOC92667				ENSP00000366939		5-Feb	8.24E-06							7.28E-05	rs771609402,COSM3404957	5-Feb	.		ENST00000377710	Transcript	1					ENSG00000125871	g.chr20:17950509A>G	16205			MODERATE		2.095	medium	getma.org/?cm=msa&ty=f&p=CT072_HUMAN&rb=1&re=148&var=M3V	NA	getma.org/?cm=var&var=hg19,20,17950509,A,G&fts=all	M3V	--	--	1																																		C20orf72_uc010gco.2_RNA|C20orf72_uc010gcp.2_5'Flank|SNX5_uc002wqc.2_5'Flank|SNX5_uc002wqd.2_5'Flank|SNX5_uc002wqe.2_5'Flank|SNX5_uc010zrt.1_5'Flank|SNX5_uc010gcn.1_5'Flank	0,1	1		probably_damaging(0.991)	p.M3V	NM_052865	NP_443097		deleterious_low_confidence(0)	0,1	MGME1_HUMAN	MGME1	HGNC	Q9BQP7	CT072_HUMAN					2	89	+			UPI00001285E8	3					SNV	MGME1,missense_variant,p.Met3Val,ENST00000377710,NM_052865.2;MGME1,missense_variant,p.Met3Val,ENST00000377709,;MGME1,missense_variant,p.Met3Val,ENST00000377704,;SNX5,upstream_gene_variant,,ENST00000377768,NM_152227.1;SNX5,upstream_gene_variant,,ENST00000377759,NM_014426.2;SNX5,upstream_gene_variant,,ENST00000606557,;SNX5,upstream_gene_variant,,ENST00000606602,;SNX5,upstream_gene_variant,,ENST00000431277,;SNX5,upstream_gene_variant,,ENST00000419004,;SNX5,upstream_gene_variant,,ENST00000486039,;SNX5,upstream_gene_variant,,ENST00000481323,;OVOL2,intron_variant,,ENST00000486776,;SNX5,upstream_gene_variant,,ENST00000490175,;MGME1,upstream_gene_variant,,ENST00000467391,;SNX5,upstream_gene_variant,,ENST00000469704,;SNX5,upstream_gene_variant,,ENST00000474883,;MGME1,upstream_gene_variant,,ENST00000463219,;	uc002wqh.2	c.7A>G	295/2336	4	4			c.7A>G						20	SNP	c.(7-9)ATG>GTG	30	30				0	Broad	hypothetical protein LOC92667			17950509		0.408	ENSG00000125871	2074	g.chr20:17950509A>G										96.797969	KEEP	18	21	-1	55	39	18	21	-1	101.967542	55	39	0.274336	1	0	0	0	0	1	0	0	0	--	--		0	G			C20orf72_uc010gco.2_RNA|C20orf72_uc010gcp.2_5'Flank|SNX5_uc002wqc.2_5'Flank|SNX5_uc002wqd.2_5'Flank|SNX5_uc002wqe.2_5'Flank|SNX5_uc010zrt.1_5'Flank|SNX5_uc010gcn.1_5'Flank	165	GBM-19-2625-TP	p.M3V	A	CTGAATGAAGATGAAGTTATT	NM_052865	NP_443097	17950509	Q9BQP7	CT072_HUMAN	0			2	89	+	G	G			Missense_Mutation	3						
MGRN1	0	broad.mit.edu	GRCh37	16	4731589	4731589	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5958-01	TCGA-19-5958-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399577.5:c.1170G>A	p.Ser390=	p.S390=	ENST00000399577	NM_001142290.2	390	tcG/tcA	0	A:0.0002		1			A	S	uc002cwz.2	protein_coding		CCDS45402.1			1170/1659									ovary(1)|skin(1)	2	c.(1168-1170)TCG>TCA			hmmpanther:PTHR22996:SF2,hmmpanther:PTHR22996	mahogunin, ring finger 1 isoform 3			A:0	ENSP00000382487		13/17	1.65E-05	0.000105	8.68E-05						rs372689801,COSM2156837,COSM2156838	13/17	.		ENST00000399577	Transcript			endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000102858	g.chr16:4731589G>A	20254			LOW								--	--	1																																		MGRN1_uc002cxa.2_Silent_p.S390S|MGRN1_uc010btx.2_Silent_p.S369S|MGRN1_uc010btw.2_Silent_p.S369S|MGRN1_uc002cxb.2_Silent_p.S429S|MGRN1_uc010uxo.1_Silent_p.S368S|MGRN1_uc010uxp.1_Silent_p.S368S|MGRN1_uc010uxq.1_RNA	0,1,1				p.S390S	NM_001142290	NP_001135762			0,1,1	MGRN1_HUMAN	MGRN1	HGNC	O60291	MGRN1_HUMAN			K7ERA1_HUMAN		13	1306	+			UPI0000409A51	390					SNV	MGRN1,synonymous_variant,p.=,ENST00000399577,NM_001142290.2;MGRN1,synonymous_variant,p.=,ENST00000415496,NM_001142291.2,NM_001142289.2;MGRN1,synonymous_variant,p.=,ENST00000262370,NM_015246.3;MGRN1,synonymous_variant,p.=,ENST00000587747,;MGRN1,synonymous_variant,p.=,ENST00000586183,;MGRN1,synonymous_variant,p.=,ENST00000588994,;MGRN1,downstream_gene_variant,,ENST00000590790,;MGRN1,non_coding_transcript_exon_variant,,ENST00000592256,;MGRN1,non_coding_transcript_exon_variant,,ENST00000588111,;MGRN1,downstream_gene_variant,,ENST00000588015,;MGRN1,downstream_gene_variant,,ENST00000591673,;MGRN1,3_prime_UTR_variant,,ENST00000536343,;MGRN1,non_coding_transcript_exon_variant,,ENST00000585676,;	uc002cwz.2	c.1170G>A	1263/6425	2	2			c.1170G>A						16	SNP	c.(1168-1170)TCG>TCA	44	44			ovary(1)|skin(1)	2	Broad	mahogunin, ring finger 1 isoform 3			4731589		0.647	ENSG00000102858	9382	g.chr16:4731589G>A	endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding							74.860893	KEEP	11	17	-1	31	25	11	17	-1	75.711001	31	25	0.378788	1	0	0	0	0	0	0	1	0	--	--		0	A			MGRN1_uc002cxa.2_Silent_p.S390S|MGRN1_uc010btx.2_Silent_p.S369S|MGRN1_uc010btw.2_Silent_p.S369S|MGRN1_uc002cxb.2_Silent_p.S429S|MGRN1_uc010uxo.1_Silent_p.S368S|MGRN1_uc010uxp.1_Silent_p.S368S|MGRN1_uc010uxq.1_RNA	176	GBM-19-5958-TP	p.S390S	G	AGCCCATCTCGCTGCTCGAGG	NM_001142290	NP_001135762	4731589	O60291	MGRN1_HUMAN	0			13	1306	+	A	A			Silent	390						
MGRN1	0	broad.mit.edu	GRCh37	16	4731741	4731741	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-2573-01	TCGA-41-2573-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399577.5:c.1322G>A	p.Arg441His	p.R441H	ENST00000399577	NM_001142290.2	441	cGc/cAc	0			1			A	R/H	uc002cwz.2	protein_coding		CCDS45402.1			1322/1659									ovary(1)|skin(1)	2	c.(1321-1323)CGC>CAC			hmmpanther:PTHR22996:SF2,hmmpanther:PTHR22996	mahogunin, ring finger 1 isoform 3				ENSP00000382487		13/17	8.26E-06		8.87E-05						rs764157399,COSM3402331,COSM3402332	13/17	.		ENST00000399577	Transcript			endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000102858	g.chr16:4731741G>A	20254			MODERATE		-0.695	neutral	getma.org/?cm=msa&ty=f&p=MGRN1_HUMAN&rb=401&re=537&var=R441H	NA	getma.org/?cm=var&var=hg19,16,4731741,G,A&fts=all	R441H	--	--	1																																		MGRN1_uc002cxa.2_Missense_Mutation_p.R441H|MGRN1_uc010btx.2_Missense_Mutation_p.R420H|MGRN1_uc010btw.2_Missense_Mutation_p.R420H|MGRN1_uc002cxb.2_Missense_Mutation_p.R480H|MGRN1_uc010uxo.1_Missense_Mutation_p.R419H|MGRN1_uc010uxp.1_Missense_Mutation_p.R419H|MGRN1_uc010uxq.1_RNA	0,1,1			benign(0)	p.R441H	NM_001142290	NP_001135762		tolerated(0.43)	0,1,1	MGRN1_HUMAN	MGRN1	HGNC	O60291	MGRN1_HUMAN			K7ERA1_HUMAN		13	1458	+			UPI0000409A51	441					SNV	MGRN1,missense_variant,p.Arg441His,ENST00000399577,NM_001142290.2;MGRN1,missense_variant,p.Arg420His,ENST00000415496,NM_001142291.2,NM_001142289.2;MGRN1,missense_variant,p.Arg441His,ENST00000262370,NM_015246.3;MGRN1,missense_variant,p.Arg480His,ENST00000587747,;MGRN1,missense_variant,p.Arg419His,ENST00000586183,;MGRN1,missense_variant,p.Arg419His,ENST00000588994,;MGRN1,downstream_gene_variant,,ENST00000590790,;MGRN1,non_coding_transcript_exon_variant,,ENST00000592256,;MGRN1,non_coding_transcript_exon_variant,,ENST00000588111,;MGRN1,downstream_gene_variant,,ENST00000588015,;MGRN1,downstream_gene_variant,,ENST00000591673,;MGRN1,3_prime_UTR_variant,,ENST00000536343,;MGRN1,non_coding_transcript_exon_variant,,ENST00000585676,;	uc002cwz.2	c.1322G>A	1415/6425	2	2			c.1322G>A						16	SNP	c.(1321-1323)CGC>CAC	19	19			ovary(1)|skin(1)	2	Broad	mahogunin, ring finger 1 isoform 3			4731741		0.662	ENSG00000102858	9382	g.chr16:4731741G>A	endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding							22.062586	KEEP	7	12	-1	21	15	7	12	-1	22.992823	21	15	0.310345	1	0	0	0	0	1	0	0	0	--	--		0	A			MGRN1_uc002cxa.2_Missense_Mutation_p.R441H|MGRN1_uc010btx.2_Missense_Mutation_p.R420H|MGRN1_uc010btw.2_Missense_Mutation_p.R420H|MGRN1_uc002cxb.2_Missense_Mutation_p.R480H|MGRN1_uc010uxo.1_Missense_Mutation_p.R419H|MGRN1_uc010uxp.1_Missense_Mutation_p.R419H|MGRN1_uc010uxq.1_RNA	252	GBM-41-2573-TP	p.R441H	G	GACAGCAGCCGCCAGAAGGGC	NM_001142290	NP_001135762	4731741	O60291	MGRN1_HUMAN	0			13	1458	+	A	A			Missense_Mutation	441						
MIA2	4253	broad.mit.edu	GRCh37	14	39703346	39703348	+	inframe_deletion	In_Frame_Del	DEL	CTT	CTT	-			TCGA-06-0129-01	TCGA-06-0129-01	CTT	CTT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000280082.3:c.33_35del	p.Leu12del	p.L12del	ENST00000280082	NM_054024.3	10	CTT/-	0			1			-	L/-	uc001wux.2	protein_coding	YES	CCDS9672.1			28-30/1965									ovary(1)|breast(1)	2	c.(28-30)CTTdel			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23158,hmmpanther:PTHR23158:SF42	melanoma inhibitory activity 2				ENSP00000280082		6-Jan									rs769447194,COSM2149511	6-Jan	.		ENST00000280082	Transcript				extracellular region		ENSG00000150526	g.chr14:39703346_39703348delCTT	18432	5		MODERATE								--	--	1																																		MIA2_uc010amy.1_5'UTR	0,1	1			p.L12del	NM_054024	NP_473365			0,1	MIA2_HUMAN	MIA2	HGNC	Q96PC5	MIA2_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)	G3V4M1_HUMAN,B2RA73_HUMAN		1	222_224	+	Hepatocellular(127;0.213)		UPI0000351D6B	12					deletion	RP11-407N17.3,inframe_deletion,p.Leu12del,ENST00000553728,;MIA2,inframe_deletion,p.Leu12del,ENST00000280082,NM_054024.3;MIA2,inframe_deletion,p.Leu12del,ENST00000556784,;MIA2,inframe_deletion,p.Leu12del,ENST00000555143,;MIA2,inframe_deletion,p.Leu12del,ENST00000557148,;	uc001wux.2	c.28_30delCTT	227-229/2570	5	5			c.28_30delCTT						14	DEL	c.(28-30)CTTdel	56	56			ovary(1)|breast(1)	2	Broad	melanoma inhibitory activity 2			39703348		0.424	ENSG00000150526	9387	g.chr14:39703346_39703348delCTT		extracellular region																					0.36	1	1	0	1	0	0	0	0	0	--	--		0	-			MIA2_uc010amy.1_5'UTR	15	GBM-06-0129-TP	p.L12del	CTT	TCACAGAATCCTTCTTCTGGCTA	NM_054024	NP_473365	39703346	Q96PC5	MIA2_HUMAN	0	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)	1	222_224	+	-	-	Hepatocellular(127;0.213)		In_Frame_Del	12						
MIA2	4253		GRCh37	14	39722420	39722420	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000280082.3:c.1932G>T	p.Leu644Phe	p.L644F	ENST00000280082	NM_054024.3	644	ttG/ttT	0																																																																																																																																																																																																																																												
MIA3	0	broad.mit.edu	GRCh37	1	222833136	222833136	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-5209-01	TCGA-28-5209-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344922.5:c.4867A>G	p.Arg1623Gly	p.R1623G	ENST00000344922	NM_198551.2	1623	Aga/Gga	0			1			G	R/G	uc001hnl.2	protein_coding	YES	CCDS41470.1			4867/5724									ovary(4)|central_nervous_system(1)	5	c.(4867-4869)AGA>GGA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23158,hmmpanther:PTHR23158:SF37	melanoma inhibitory activity family, member 3				ENSP00000340900		22/28									COSM3400355,COSM3400356	22/28	.		ENST00000344922	Transcript			exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	ENSG00000154305	g.chr1:222833136A>G	24008			MODERATE		2.955	medium	getma.org/?cm=msa&ty=f&p=MIA3_HUMAN&rb=1478&re=1624&var=R1623G	NA	getma.org/?cm=var&var=hg19,1,222833136,A,G&fts=all	R1623G	--	--	1																																		MIA3_uc001hnm.2_Missense_Mutation_p.R501G	1,1	1		probably_damaging(0.998)	p.R1623G	NM_198551	NP_940953		deleterious(0)	1,1	MIA3_HUMAN	MIA3	HGNC	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)			22	4876	+			UPI00001D75B3	1623			Cytoplasmic (Potential).|Potential.		SNV	MIA3,missense_variant,p.Arg1623Gly,ENST00000344922,NM_198551.2;MIA3,missense_variant,p.Arg1623Gly,ENST00000344441,;MIA3,missense_variant,p.Arg501Gly,ENST00000340535,;MIA3,intron_variant,,ENST00000344507,;MIA3,upstream_gene_variant,,ENST00000450260,;RP11-378J18.8,non_coding_transcript_exon_variant,,ENST00000608771,;MIA3,non_coding_transcript_exon_variant,,ENST00000476400,;MIA3,upstream_gene_variant,,ENST00000475451,;MIA3,upstream_gene_variant,,ENST00000477519,;MIA3,upstream_gene_variant,,ENST00000479370,;	uc001hnl.2	c.4867A>G	4892/8142	3	3			c.4867A>G						1	SNP	c.(4867-4869)AGA>GGA	58	58			ovary(4)|central_nervous_system(1)	5	Broad	melanoma inhibitory activity family, member 3			222833136		0.358	ENSG00000154305	9388	g.chr1:222833136A>G	exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding							-16.767091	KEEP	3	1	-1	54	56	3	1	-1	7.481135	54	56	0.03	1	0	0	0	0	1	0	0	0	--	--		0	G			MIA3_uc001hnm.2_Missense_Mutation_p.R501G	218	GBM-28-5209-TP	p.R1623G	A	TGCCAATTTGAGACACAAGTA	NM_198551	NP_940953	222833136	Q5JRA6	MIA3_HUMAN	0		GBM - Glioblastoma multiforme(131;0.0199)	22	4876	+	G	G			Missense_Mutation	1623			Cytoplasmic (Potential).|Potential.			
MIB1	57534	broad.mit.edu	GRCh37	18	19345780	19345780	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0155-01	TCGA-06-0155-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261537.6:c.277A>G	p.Ile93Val	p.I93V	ENST00000261537	NM_020774.3	93	Atc/Gtc	0			1			G	I/V	uc002ktq.2	protein_coding	YES	CCDS11871.1			277/3021									ovary(4)	4	c.(277-279)ATC>GTC			PROSITE_profiles:PS50135,hmmpanther:PTHR24202,hmmpanther:PTHR24202:SF52,PROSITE_patterns:PS01357,Pfam_domain:PF00569,SMART_domains:SM00291,Superfamily_domains:SSF57850	mindbomb homolog 1				ENSP00000261537		21-Feb	8.24E-06					1.50E-05			rs777278397,COSM2149975	21-Feb	.		ENST00000261537	Transcript	1		Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	ENSG00000101752	g.chr18:19345780A>G	21086			MODERATE		2.165	medium	getma.org/?cm=msa&ty=f&p=MIB1_HUMAN&rb=79&re=124&var=I93V	getma.org/pdb.php?prot=MIB1_HUMAN&from=79&to=124&var=I93V	getma.org/?cm=var&var=hg19,18,19345780,A,G&fts=all	I93V	--	--	1																																		MIB1_uc002ktp.2_5'UTR	0,1	1		possibly_damaging(0.556)	p.I93V	NM_020774	NP_065825		deleterious(0)	0,1	MIB1_HUMAN	MIB1	HGNC	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		B3KRA8_HUMAN		2	277	+			UPI000000D833	93			ZZ-type.		SNV	MIB1,missense_variant,p.Ile93Val,ENST00000261537,NM_020774.3;MIB1,non_coding_transcript_exon_variant,,ENST00000578646,;	uc002ktq.2	c.277A>G	541/9576	3	3			c.277A>G						18	SNP	c.(277-279)ATC>GTC	51	51			ovary(4)	4	Broad	mindbomb homolog 1			19345780		0.378	ENSG00000101752	9389	g.chr18:19345780A>G	Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding							243.974147	KEEP	46	43	-1	71	61	46	43	-1	245.135575	71	61	0.410714	1	0	0	0	0	1	0	0	0	--	--		0	G			MIB1_uc002ktp.2_5'UTR	27	GBM-06-0155-TP	p.I93V	A	CCAGCAACCAATCATTGGCAT	NM_020774	NP_065825	19345780	Q86YT6	MIB1_HUMAN	0	STAD - Stomach adenocarcinoma(5;0.212)		2	277	+	G	G			Missense_Mutation	93			ZZ-type.			
MIB1	0	broad.mit.edu	GRCh37	18	19395686	19395686	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01	TCGA-16-0846-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261537.6:c.1589G>A	p.Arg530Gln	p.R530Q	ENST00000261537	NM_020774.3	530	cGa/cAa	0			1			A	R/Q	uc002ktq.2	protein_coding	YES	CCDS11871.1			1589/3021									ovary(4)	4	c.(1588-1590)CGA>CAA			PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24202,hmmpanther:PTHR24202:SF52,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	mindbomb homolog 1				ENSP00000261537		21-Nov									COSM3403458	21-Nov	.		ENST00000261537	Transcript	1		Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	ENSG00000101752	g.chr18:19395686G>A	21086			MODERATE		-0.61	neutral	getma.org/?cm=msa&ty=f&p=MIB1_HUMAN&rb=527&re=593&var=R530Q	getma.org/pdb.php?prot=MIB1_HUMAN&from=527&to=593&var=R530Q	getma.org/?cm=var&var=hg19,18,19395686,G,A&fts=all	R530Q	--	--	1																																		MIB1_uc002ktp.2_Missense_Mutation_p.R169Q	1	1		benign(0.06)	p.R530Q	NM_020774	NP_065825		tolerated(0.11)	1	MIB1_HUMAN	MIB1	HGNC	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		B3KRA8_HUMAN		11	1589	+			UPI000000D833	530			ANK 4.		SNV	MIB1,missense_variant,p.Arg530Gln,ENST00000261537,NM_020774.3;SNORA73,upstream_gene_variant,,ENST00000363107,;MIB1,non_coding_transcript_exon_variant,,ENST00000578646,;MIB1,non_coding_transcript_exon_variant,,ENST00000577749,;MIB1,non_coding_transcript_exon_variant,,ENST00000578260,;	uc002ktq.2	c.1589G>A	1853/9576	2	2			c.1589G>A						18	SNP	c.(1588-1590)CGA>CAA	35	35			ovary(4)	4	Broad	mindbomb homolog 1			19395686		0.438	ENSG00000101752	9389	g.chr18:19395686G>A	Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding							4.068523	KEEP	5	2	-1	46	24	5	2	-1	15.273878	46	24	0.1	1	0	0	0	0	1	0	0	0	--	--		0	A			MIB1_uc002ktp.2_Missense_Mutation_p.R169Q	155	GBM-16-0846-TP	p.R530Q	G	AACAAGCGCCGACAGACACCA	NM_020774	NP_065825	19395686	Q86YT6	MIB1_HUMAN	0	STAD - Stomach adenocarcinoma(5;0.212)		11	1589	+	A	A			Missense_Mutation	530			ANK 4.			
MIB1	0	broad.mit.edu	GRCh37	18	19321653	19321653	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-26-1442-01	TCGA-26-1442-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261537.6:c.109G>C	p.Gly37Arg	p.G37R	ENST00000261537	NM_020774.3	37	Ggc/Cgc	0			1			C	G/R	uc002ktq.2	protein_coding	YES	CCDS11871.1			109/3021									ovary(4)	4	c.(109-111)GGC>CGC			PROSITE_profiles:PS51416,hmmpanther:PTHR24202,hmmpanther:PTHR24202:SF52,Pfam_domain:PF06701,Superfamily_domains:0053823	mindbomb homolog 1				ENSP00000261537		21-Jan									COSM3403456	21-Jan	.		ENST00000261537	Transcript	1		Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	ENSG00000101752	g.chr18:19321653G>C	21086			MODERATE		2.88	medium	getma.org/?cm=msa&ty=f&p=MIB1_HUMAN&rb=15&re=74&var=G37R	getma.org/pdb.php?prot=MIB1_HUMAN&from=15&to=74&var=G37R	getma.org/?cm=var&var=hg19,18,19321653,G,C&fts=all	G37R	--	--	1																																		MIB1_uc002ktp.2_Intron	1	1		benign(0.17)	p.G37R	NM_020774	NP_065825		deleterious(0)	1	MIB1_HUMAN	MIB1	HGNC	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		B3KRA8_HUMAN		1	109	+			UPI000000D833	37			MIB/HERC2 1.		SNV	MIB1,missense_variant,p.Gly37Arg,ENST00000261537,NM_020774.3;MIB1,intron_variant,,ENST00000578646,;	uc002ktq.2	c.109G>C	373/9576	3	3			c.109G>C						18	SNP	c.(109-111)GGC>CGC	64	64			ovary(4)	4	Broad	mindbomb homolog 1			19321653		0.677	ENSG00000101752	9389	g.chr18:19321653G>C	Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding							9.188659	KEEP	1	4	-1	7	14	1	4	-1	11.068717	7	14	0.190476	1	0	0	0	0	1	0	0	0	--	--		0	C			MIB1_uc002ktp.2_Intron	180	GBM-26-1442-TP	p.G37R	G	GGGCCATGTGGGCACCGTCCG	NM_020774	NP_065825	19321653	Q86YT6	MIB1_HUMAN	0	STAD - Stomach adenocarcinoma(5;0.212)		1	109	+	C	C			Missense_Mutation	37			MIB/HERC2 1.			
MIB1	57534		GRCh37	18	19358097	19358097	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000261537.6:c.670G>A	p.Gly224Ser	p.G224S	ENST00000261537	NM_020774.3	224	Ggt/Agt	0																																																																																																																																																																																																																																												
MIB2	142678	broad.mit.edu	GRCh37	1	1563750	1563750	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01	TCGA-06-5415-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000505820.2:c.2284C>T	p.Arg762Cys	p.R762C	ENST00000505820		762	Cgc/Tgc	0			1			T	R/C	uc001agg.2	protein_coding	YES	CCDS41224.2			2284/3213										0	c.(2113-2115)CGC>TGC			PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24202:SF4,hmmpanther:PTHR24202,Pfam_domain:PF13637,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403,Prints_domain:PR01415	mindbomb homolog 2				ENSP00000426103		15/20	3.31E-05	0.000231				1.59E-05		6.21E-05	rs750480310,COSM2153251	15/20	.		ENST00000505820	Transcript			Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000197530	g.chr1:1563750C>T	30577			MODERATE		0.885	low	getma.org/?cm=msa&ty=f&p=MIB2_HUMAN&rb=632&re=723&var=R705C	getma.org/pdb.php?prot=MIB2_HUMAN&from=632&to=723&var=R705C	getma.org/?cm=var&var=hg19,1,1563750,C,T&fts=all	R705C	--	--	1																																		MIB2_uc001agh.2_Missense_Mutation_p.R691C|MIB2_uc001agi.2_Missense_Mutation_p.R701C|MIB2_uc001agj.2_Missense_Mutation_p.R546C|MIB2_uc001agk.2_Missense_Mutation_p.R640C|MIB2_uc001agl.1_Missense_Mutation_p.R661C|MIB2_uc001agm.2_Missense_Mutation_p.R582C|MIB2_uc010nyq.1_Missense_Mutation_p.R661C|MIB2_uc009vkh.2_Missense_Mutation_p.R511C|MIB2_uc001agn.2_Missense_Mutation_p.R337C|MIB2_uc001ago.2_5'Flank	0,1	1		benign(0.021)	p.R705C	NM_080875	NP_543151		tolerated(0.16)	0,1	MIB2_HUMAN	MIB2	HGNC	Q96AX9	MIB2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	E9PD12_HUMAN,D6RFJ2_HUMAN,D6RE96_HUMAN		15	2240	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	UPI0001C0B37A	705			ANK 6.		SNV	MIB2,missense_variant,p.Arg705Cys,ENST00000357210,NM_080875.2;MIB2,missense_variant,p.Arg758Cys,ENST00000520777,NM_001170686.1;MIB2,missense_variant,p.Arg661Cys,ENST00000504599,;MIB2,missense_variant,p.Arg762Cys,ENST00000505820,;MIB2,missense_variant,p.Arg748Cys,ENST00000355826,NM_001170687.1;MIB2,missense_variant,p.Arg670Cys,ENST00000360522,;MIB2,missense_variant,p.Arg669Cys,ENST00000378710,;MIB2,missense_variant,p.Arg697Cys,ENST00000518681,NM_001170688.1;MIB2,missense_variant,p.Arg611Cys,ENST00000378708,;MIB2,missense_variant,p.Arg582Cys,ENST00000378712,NM_001170689.1;MIB2,missense_variant,p.Arg521Cys,ENST00000514234,;MMP23B,upstream_gene_variant,,ENST00000356026,;MMP23B,upstream_gene_variant,,ENST00000378675,NM_006983.1;MIB2,upstream_gene_variant,,ENST00000483015,;MMP23B,upstream_gene_variant,,ENST00000479814,;MIB2,downstream_gene_variant,,ENST00000510793,;MMP23B,upstream_gene_variant,,ENST00000503792,;MMP23B,upstream_gene_variant,,ENST00000435358,;MIB2,downstream_gene_variant,,ENST00000503789,;MMP23B,upstream_gene_variant,,ENST00000472264,;MIB2,downstream_gene_variant,,ENST00000512004,;MIB2,missense_variant,p.Arg661Cys,ENST00000487053,;MIB2,3_prime_UTR_variant,,ENST00000489635,;MIB2,3_prime_UTR_variant,,ENST00000506488,;MIB2,non_coding_transcript_exon_variant,,ENST00000479659,;MIB2,non_coding_transcript_exon_variant,,ENST00000511502,;MIB2,non_coding_transcript_exon_variant,,ENST00000507229,;MIB2,non_coding_transcript_exon_variant,,ENST00000473511,;MIB2,non_coding_transcript_exon_variant,,ENST00000464570,;MMP23B,upstream_gene_variant,,ENST00000512731,;MIB2,downstream_gene_variant,,ENST00000505370,;MIB2,downstream_gene_variant,,ENST00000502470,;MIB2,downstream_gene_variant,,ENST00000467597,;MIB2,downstream_gene_variant,,ENST00000514363,;MIB2,upstream_gene_variant,,ENST00000511910,;MIB2,downstream_gene_variant,,ENST00000508148,;MIB2,downstream_gene_variant,,ENST00000486072,;MIB2,downstream_gene_variant,,ENST00000508455,;MIB2,upstream_gene_variant,,ENST00000470373,;	uc001agg.2	c.2113C>T	2301/3305	2	2			c.2113C>T						1	SNP	c.(2113-2115)CGC>TGC	33	33				0	Broad	mindbomb homolog 2			1563750		0.692	ENSG00000197530	9390	g.chr1:1563750C>T	Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding							43.150648	KEEP	10	6	-1	14	6	10	6	-1	43.179223	14	6	0.466667	1	0	0	0	0	1	0	0	0	--	--		0	T			MIB2_uc001agh.2_Missense_Mutation_p.R691C|MIB2_uc001agi.2_Missense_Mutation_p.R701C|MIB2_uc001agj.2_Missense_Mutation_p.R546C|MIB2_uc001agk.2_Missense_Mutation_p.R640C|MIB2_uc001agl.1_Missense_Mutation_p.R661C|MIB2_uc001agm.2_Missense_Mutation_p.R582C|MIB2_uc010nyq.1_Missense_Mutation_p.R661C|MIB2_uc009vkh.2_Missense_Mutation_p.R511C|MIB2_uc001agn.2_Missense_Mutation_p.R337C|MIB2_uc001ago.2_5'Flank	98	GBM-06-5415-TP	p.R705C	C	CAACAACCACCGCGAGGTGGC	NM_080875	NP_543151	1563750	Q96AX9	MIB2_HUMAN	0		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	15	2240	+	T	T	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	Missense_Mutation	705			ANK 6.			
MIB2	0	broad.mit.edu	GRCh37	1	1563429	1563429	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000505820.2:c.2056G>A	p.Ala686Thr	p.A686T	ENST00000505820		686	Gcc/Acc	0			1			A	A/T	uc001agg.2	protein_coding	YES	CCDS41224.2			2056/3213										0	c.(1885-1887)GCC>ACC			PROSITE_profiles:PS50297,hmmpanther:PTHR24202:SF4,hmmpanther:PTHR24202,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	mindbomb homolog 2				ENSP00000426103		14/20									COSM3399807	14/20	.		ENST00000505820	Transcript			Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000197530	g.chr1:1563429G>A	30577			MODERATE		3.7	high	getma.org/?cm=msa&ty=f&p=MIB2_HUMAN&rb=570&re=655&var=A629T	getma.org/pdb.php?prot=MIB2_HUMAN&from=570&to=655&var=A629T	getma.org/?cm=var&var=hg19,1,1563429,G,A&fts=all	A629T	--	--	1																																		MIB2_uc001agh.2_Missense_Mutation_p.A615T|MIB2_uc001agi.2_Missense_Mutation_p.A625T|MIB2_uc001agj.2_Missense_Mutation_p.A470T|MIB2_uc001agk.2_Missense_Mutation_p.A564T|MIB2_uc001agl.1_Missense_Mutation_p.A585T|MIB2_uc001agm.2_Missense_Mutation_p.A506T|MIB2_uc010nyq.1_Missense_Mutation_p.A585T|MIB2_uc009vkh.2_Missense_Mutation_p.A435T|MIB2_uc001agn.2_Missense_Mutation_p.A261T|MIB2_uc001ago.2_5'Flank	1	1		benign(0.416)	p.A629T	NM_080875	NP_543151		deleterious(0)	1	MIB2_HUMAN	MIB2	HGNC	Q96AX9	MIB2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	E9PD12_HUMAN,D6RFJ2_HUMAN,D6RE96_HUMAN		14	2012	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	UPI0001C0B37A	629			ANK 4.		SNV	MIB2,missense_variant,p.Ala629Thr,ENST00000357210,NM_080875.2;MIB2,missense_variant,p.Ala682Thr,ENST00000520777,NM_001170686.1;MIB2,missense_variant,p.Ala585Thr,ENST00000504599,;MIB2,missense_variant,p.Ala686Thr,ENST00000505820,;MIB2,missense_variant,p.Ala672Thr,ENST00000355826,NM_001170687.1;MIB2,missense_variant,p.Ala594Thr,ENST00000360522,;MIB2,missense_variant,p.Ala593Thr,ENST00000378710,;MIB2,missense_variant,p.Ala621Thr,ENST00000518681,NM_001170688.1;MIB2,missense_variant,p.Ala535Thr,ENST00000378708,;MIB2,missense_variant,p.Ala506Thr,ENST00000378712,NM_001170689.1;MIB2,missense_variant,p.Ala445Thr,ENST00000514234,;MMP23B,upstream_gene_variant,,ENST00000356026,;MMP23B,upstream_gene_variant,,ENST00000378675,NM_006983.1;MIB2,upstream_gene_variant,,ENST00000483015,;MMP23B,upstream_gene_variant,,ENST00000479814,;MIB2,downstream_gene_variant,,ENST00000510793,;MIB2,downstream_gene_variant,,ENST00000503789,;MMP23B,upstream_gene_variant,,ENST00000472264,;MIB2,downstream_gene_variant,,ENST00000512004,;MIB2,missense_variant,p.Ala585Thr,ENST00000487053,;MIB2,3_prime_UTR_variant,,ENST00000489635,;MIB2,3_prime_UTR_variant,,ENST00000506488,;MIB2,non_coding_transcript_exon_variant,,ENST00000479659,;MIB2,non_coding_transcript_exon_variant,,ENST00000511502,;MIB2,non_coding_transcript_exon_variant,,ENST00000507229,;MIB2,non_coding_transcript_exon_variant,,ENST00000473511,;MIB2,non_coding_transcript_exon_variant,,ENST00000464570,;MMP23B,upstream_gene_variant,,ENST00000512731,;MIB2,downstream_gene_variant,,ENST00000505370,;MIB2,downstream_gene_variant,,ENST00000502470,;MIB2,downstream_gene_variant,,ENST00000467597,;MIB2,downstream_gene_variant,,ENST00000514363,;MIB2,upstream_gene_variant,,ENST00000511910,;MIB2,downstream_gene_variant,,ENST00000508148,;MIB2,downstream_gene_variant,,ENST00000486072,;MIB2,downstream_gene_variant,,ENST00000508455,;MIB2,upstream_gene_variant,,ENST00000470373,;	uc001agg.2	c.1885G>A	2073/3305	2	2			c.1885G>A						1	SNP	c.(1885-1887)GCC>ACC	33	33				0	Broad	mindbomb homolog 2			1563429		0.652	ENSG00000197530	9390	g.chr1:1563429G>A	Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding							-23.789502	KEEP	1	3	-1	69	84	1	3	-1	6.990769	69	84	0.03125	1	0	0	0	0	1	0	0	0	--	--		0	A			MIB2_uc001agh.2_Missense_Mutation_p.A615T|MIB2_uc001agi.2_Missense_Mutation_p.A625T|MIB2_uc001agj.2_Missense_Mutation_p.A470T|MIB2_uc001agk.2_Missense_Mutation_p.A564T|MIB2_uc001agl.1_Missense_Mutation_p.A585T|MIB2_uc001agm.2_Missense_Mutation_p.A506T|MIB2_uc010nyq.1_Missense_Mutation_p.A585T|MIB2_uc009vkh.2_Missense_Mutation_p.A435T|MIB2_uc001agn.2_Missense_Mutation_p.A261T|MIB2_uc001ago.2_5'Flank	249	GBM-32-5222-TP	p.A629T	G	CCTGCACTCCGCCATCTCGGC	NM_080875	NP_543151	1563429	Q96AX9	MIB2_HUMAN	0		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	14	2012	+	A	A	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	Missense_Mutation	629			ANK 4.			
MICAL2	9645	broad.mit.edu	GRCh37	11	12244171	12244171	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0939-01	TCGA-06-0939-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256194.4:c.1330C>A	p.Leu444Ile	p.L444I	ENST00000256194	NM_014632.2	444	Ctc/Atc	0			1			A	L/I	uc001mjz.2	protein_coding	YES	CCDS7809.1			1330/3375									upper_aerodigestive_tract(2)	2	c.(1330-1332)CTC>ATC			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF239,Superfamily_domains:SSF47576	microtubule associated monoxygenase, calponin				ENSP00000256194		28-Nov									COSM3397488,COSM3397489	28-Nov	.		ENST00000256194	Transcript				cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	ENSG00000133816	g.chr11:12244171C>A	24693			MODERATE		-0.43	neutral	getma.org/?cm=msa&ty=f&p=MICA2_HUMAN&rb=344&re=519&var=L444I	getma.org/pdb.php?prot=MICA2_HUMAN&from=344&to=519&var=L444I	getma.org/?cm=var&var=hg19,11,12244171,C,A&fts=all	L444I	--	--	1																																		MICAL2_uc010rch.1_Missense_Mutation_p.L444I|MICAL2_uc001mka.2_Missense_Mutation_p.L444I|MICAL2_uc010rci.1_Missense_Mutation_p.L444I|MICAL2_uc001mkb.2_Missense_Mutation_p.L444I|MICAL2_uc001mkc.2_Missense_Mutation_p.L444I|MICAL2_uc001mkd.2_Missense_Mutation_p.L273I|MICAL2_uc010rcj.1_5'UTR	1,1	1		benign(0.058)	p.L444I	NM_014632	NP_055447		tolerated(1)	1,1	MICA2_HUMAN	MICAL2	HGNC	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	E9PRE0_HUMAN,E9PNC3_HUMAN,E9PL42_HUMAN,E9PKI3_HUMAN,E9PJB0_HUMAN		11	1618	+			UPI000000DA92	444					SNV	MICAL2,missense_variant,p.Leu444Ile,ENST00000256194,NM_014632.2,NM_001282663.1;MICAL2,missense_variant,p.Leu444Ile,ENST00000537344,NM_001282665.1;MICAL2,missense_variant,p.Leu444Ile,ENST00000342902,NM_001282664.1;MICAL2,missense_variant,p.Leu444Ile,ENST00000527546,NM_001282665.1;MICAL2,missense_variant,p.Leu444Ile,ENST00000379612,NM_001282666.1;MICAL2,upstream_gene_variant,,ENST00000526475,;MICAL2,upstream_gene_variant,,ENST00000529562,;MICAL2,non_coding_transcript_exon_variant,,ENST00000530691,;MICAL2,non_coding_transcript_exon_variant,,ENST00000528931,;MICAL2,upstream_gene_variant,,ENST00000533219,;	uc001mjz.2	c.1330C>A	1618/3906	2	2			c.1330C>A						11	SNP	c.(1330-1332)CTC>ATC	44	44			upper_aerodigestive_tract(2)	2	Broad	microtubule associated monoxygenase, calponin			12244171		0.567	ENSG00000133816	9392	g.chr11:12244171C>A		cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding							-2.314901	KEEP	2	1	0.333333333	32	45	2	1	0.333333333	6.449288	32	45	0.066667	1	0	0	0	0	1	0	0	0	--	--		0	A			MICAL2_uc010rch.1_Missense_Mutation_p.L444I|MICAL2_uc001mka.2_Missense_Mutation_p.L444I|MICAL2_uc010rci.1_Missense_Mutation_p.L444I|MICAL2_uc001mkb.2_Missense_Mutation_p.L444I|MICAL2_uc001mkc.2_Missense_Mutation_p.L444I|MICAL2_uc001mkd.2_Missense_Mutation_p.L273I|MICAL2_uc010rcj.1_5'UTR	78	GBM-06-0939-TP	p.L444I	C	CAGGGAAAGTCTCTACCGGCT	NM_014632	NP_055447	12244171	O94851	MICA2_HUMAN	0		Epithelial(150;0.00552)	11	1618	+	A	A			Missense_Mutation	444						
MICAL2	0	broad.mit.edu	GRCh37	11	12261088	12261088	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-6450-01	TCGA-28-6450-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256194.4:c.2170G>A	p.Ala724Thr	p.A724T	ENST00000256194	NM_014632.2	724	Gcc/Acc	0			1			A	A/T	uc001mjz.2	protein_coding	YES	CCDS7809.1			2170/3375									upper_aerodigestive_tract(2)	2	c.(2170-2172)GCC>ACC			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF239	microtubule associated monoxygenase, calponin				ENSP00000256194		17/28									COSM3397490,COSM3397491	17/28	.		ENST00000256194	Transcript				cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	ENSG00000133816	g.chr11:12261088G>A	24693			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=MICA2_HUMAN&rb=623&re=822&var=A724T	NA	getma.org/?cm=var&var=hg19,11,12261088,G,A&fts=all	A724T	--	--	1																																		MICAL2_uc010rch.1_Missense_Mutation_p.A724T|MICAL2_uc001mka.2_Missense_Mutation_p.A724T|MICAL2_uc010rci.1_Missense_Mutation_p.A724T|MICAL2_uc001mkb.2_Missense_Mutation_p.A724T|MICAL2_uc001mkc.2_Missense_Mutation_p.A724T|MICAL2_uc001mkd.2_Missense_Mutation_p.A553T|MICAL2_uc010rcj.1_Missense_Mutation_p.A126T|MICAL2_uc001mkf.2_RNA	1,1	1		probably_damaging(0.999)	p.A724T	NM_014632	NP_055447		deleterious(0)	1,1	MICA2_HUMAN	MICAL2	HGNC	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	E9PRE0_HUMAN,E9PNC3_HUMAN,E9PL42_HUMAN,E9PKI3_HUMAN,E9PJB0_HUMAN		17	2458	+			UPI000000DA92	724					SNV	MICAL2,missense_variant,p.Ala724Thr,ENST00000256194,NM_014632.2,NM_001282663.1;MICAL2,missense_variant,p.Ala724Thr,ENST00000537344,NM_001282665.1;MICAL2,missense_variant,p.Ala724Thr,ENST00000342902,NM_001282664.1;MICAL2,missense_variant,p.Ala724Thr,ENST00000527546,NM_001282665.1;MICAL2,missense_variant,p.Ala724Thr,ENST00000379612,NM_001282666.1;MICAL2,non_coding_transcript_exon_variant,,ENST00000526475,;MICAL2,upstream_gene_variant,,ENST00000525979,;MICAL2,upstream_gene_variant,,ENST00000534563,;MICAL2,upstream_gene_variant,,ENST00000525216,;MICAL2,non_coding_transcript_exon_variant,,ENST00000530691,;MICAL2,non_coding_transcript_exon_variant,,ENST00000528931,;MICAL2,non_coding_transcript_exon_variant,,ENST00000525075,;	uc001mjz.2	c.2170G>A	2458/3906	2	2			c.2170G>A						11	SNP	c.(2170-2172)GCC>ACC	45	45			upper_aerodigestive_tract(2)	2	Broad	microtubule associated monoxygenase, calponin			12261088		0.493	ENSG00000133816	9392	g.chr11:12261088G>A		cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding							-0.207417	KEEP	3	2	-1	17	25	3	2	-1	6.940105	17	25	0.076923	1	0	0	0	0	1	0	0	0	--	--		0	A			MICAL2_uc010rch.1_Missense_Mutation_p.A724T|MICAL2_uc001mka.2_Missense_Mutation_p.A724T|MICAL2_uc010rci.1_Missense_Mutation_p.A724T|MICAL2_uc001mkb.2_Missense_Mutation_p.A724T|MICAL2_uc001mkc.2_Missense_Mutation_p.A724T|MICAL2_uc001mkd.2_Missense_Mutation_p.A553T|MICAL2_uc010rcj.1_Missense_Mutation_p.A126T|MICAL2_uc001mkf.2_RNA	227	GBM-28-6450-TP	p.A724T	G	TCAGCTGCTGGCCAAGTTTGA	NM_014632	NP_055447	12261088	O94851	MICA2_HUMAN	0		Epithelial(150;0.00552)	17	2458	+	A	A			Missense_Mutation	724						
MICAL2	0	broad.mit.edu	GRCh37	11	12241780	12241780	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-5651-01	TCGA-41-5651-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256194.4:c.981G>A	p.Ala327=	p.A327=	ENST00000256194	NM_014632.2	327	gcG/gcA	0			1			A	A	uc001mjz.2	protein_coding	YES	CCDS7809.1			981/3375									upper_aerodigestive_tract(2)	2	c.(979-981)GCG>GCA			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF239	microtubule associated monoxygenase, calponin				ENSP00000256194		28-Sep	1.65E-05					3.00E-05			rs753785708,COSM3397486,COSM3397487	28-Sep	.		ENST00000256194	Transcript				cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	ENSG00000133816	g.chr11:12241780G>A	24693			LOW								--	--	1																																		MICAL2_uc010rch.1_Silent_p.A327A|MICAL2_uc001mka.2_Silent_p.A327A|MICAL2_uc010rci.1_Silent_p.A327A|MICAL2_uc001mkb.2_Silent_p.A327A|MICAL2_uc001mkc.2_Silent_p.A327A|MICAL2_uc001mkd.2_Silent_p.A156A|MICAL2_uc010rcj.1_5'Flank	0,1,1	1			p.A327A	NM_014632	NP_055447			0,1,1	MICA2_HUMAN	MICAL2	HGNC	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	E9PRE0_HUMAN,E9PNC3_HUMAN,E9PL42_HUMAN,E9PKI3_HUMAN,E9PJB0_HUMAN		9	1269	+			UPI000000DA92	327					SNV	MICAL2,synonymous_variant,p.=,ENST00000256194,NM_014632.2,NM_001282663.1;MICAL2,synonymous_variant,p.=,ENST00000537344,NM_001282665.1;MICAL2,synonymous_variant,p.=,ENST00000342902,NM_001282664.1;MICAL2,synonymous_variant,p.=,ENST00000527546,NM_001282665.1;MICAL2,synonymous_variant,p.=,ENST00000379612,NM_001282666.1;MICAL2,non_coding_transcript_exon_variant,,ENST00000530691,;MICAL2,non_coding_transcript_exon_variant,,ENST00000528931,;MICAL2,upstream_gene_variant,,ENST00000533219,;MICAL2,downstream_gene_variant,,ENST00000524730,;	uc001mjz.2	c.981G>A	1269/3906	1	1			c.981G>A						11	SNP	c.(979-981)GCG>GCA	55	55			upper_aerodigestive_tract(2)	2	Broad	microtubule associated monoxygenase, calponin			12241780		0.527	ENSG00000133816	9392	g.chr11:12241780G>A		cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding							-9.232462	KEEP	1	2	-1	42	35	1	2	-1	6.456467	42	35	0.042857	1	0	0	0	0	0	0	1	0	--	--		0	A			MICAL2_uc010rch.1_Silent_p.A327A|MICAL2_uc001mka.2_Silent_p.A327A|MICAL2_uc010rci.1_Silent_p.A327A|MICAL2_uc001mkb.2_Silent_p.A327A|MICAL2_uc001mkc.2_Silent_p.A327A|MICAL2_uc001mkd.2_Silent_p.A156A|MICAL2_uc010rcj.1_5'Flank	258	GBM-41-5651-TP	p.A327A	G	TGCTGTGTGCGGAGAACGTGA	NM_014632	NP_055447	12241780	O94851	MICA2_HUMAN	0		Epithelial(150;0.00552)	9	1269	+	A	A			Silent	327						
MICAL3	57553	broad.mit.edu	GRCh37	22	18274039	18274039	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-0124-01	TCGA-06-0124-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000441493.2:c.5679G>T	p.Leu1893=	p.L1893=	ENST00000441493	NM_015241.2	1893	ctG/ctT	0			1			A	L	uc002zng.3	protein_coding	YES	CCDS46659.1			5679/6009										0	c.(5677-5679)CTG>CTT			Pfam_domain:PF12130,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF218	microtubule associated monoxygenase, calponin				ENSP00000416015		30/32									COSM3405502,COSM3405503	30/32	.		ENST00000441493	Transcript				cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	ENSG00000243156	g.chr22:18274039C>A	24694			LOW								--	--	1																																		MICAL3_uc011agl.1_Silent_p.L1809L|MICAL3_uc010grd.1_Silent_p.L9L|MICAL3_uc010gre.1_RNA	1,1	1			p.L1893L	NM_015241	NP_056056			1,1	MICA3_HUMAN	MICAL3	HGNC	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	C9J922_HUMAN,A8K0E1_HUMAN		30	6032	-		all_epithelial(15;0.198)	UPI0001823FDE	1893			Potential.		SNV	MICAL3,synonymous_variant,p.=,ENST00000441493,NM_015241.2;MICAL3,synonymous_variant,p.=,ENST00000577821,;MICAL3,synonymous_variant,p.=,ENST00000579997,;MICAL3,non_coding_transcript_exon_variant,,ENST00000580469,;XXbac-B461K10.4,non_coding_transcript_exon_variant,,ENST00000476405,;MICAL3,non_coding_transcript_exon_variant,,ENST00000252134,;	uc002zng.3	c.5679G>T	6032/9445	2	2			c.5679G>T						22	SNP	c.(5677-5679)CTG>CTT	35	35				0	Broad	microtubule associated monoxygenase, calponin			18274039		0.632	ENSG00000243156	9393	g.chr22:18274039C>A		cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding							16.677122	KEEP	3	5	0.625	19	16	3	5	0.625	19.428902	19	16	0.216216	1	0	0	0	0	0	0	1	0	--	--		0	A			MICAL3_uc011agl.1_Silent_p.L1809L|MICAL3_uc010grd.1_Silent_p.L9L|MICAL3_uc010gre.1_RNA	11	GBM-06-0124-TP	p.L1893L	C	ACTCCTGCATCAGCTTGGGGT	NM_015241	NP_056056	18274039	Q7RTP6	MICA3_HUMAN	0		Lung(27;0.0427)	30	6032	-	A	A		all_epithelial(15;0.198)	Silent	1893			Potential.			
MICAL3	57553	broad.mit.edu	GRCh37	22	18301237	18301238	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C			TCGA-06-0174-01	TCGA-06-0174-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000441493.2:c.4189dup	p.Glu1397GlyfsTer128	p.E1397Gfs*128	ENST00000441493	NM_015241.2	1397	gag/gGag	0			1			C	E/GX	uc002zng.3	protein_coding	YES	CCDS46659.1			4189-4190/6009										0	c.(4189-4191)GAGfs			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF218	microtubule associated monoxygenase, calponin				ENSP00000416015		26/32										26/32	.		ENST00000441493	Transcript				cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	ENSG00000243156	g.chr22:18301237_18301238insC	24694			HIGH								--	--	1																																		MICAL3_uc011agl.1_Frame_Shift_Ins_p.E1313fs|MICAL3_uc010gre.1_5'Flank		1			p.E1397fs	NM_015241	NP_056056				MICA3_HUMAN	MICAL3	HGNC	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	C9J922_HUMAN,A8K0E1_HUMAN		26	4542_4543	-		all_epithelial(15;0.198)	UPI0001823FDE	1397			Pro-rich.		insertion	MICAL3,frameshift_variant,p.Glu1397GlyfsTer128,ENST00000441493,NM_015241.2;MICAL3,upstream_gene_variant,,ENST00000577821,;MICAL3,downstream_gene_variant,,ENST00000498573,;MICAL3,downstream_gene_variant,,ENST00000578984,;MICAL3,upstream_gene_variant,,ENST00000579997,;MICAL3,upstream_gene_variant,,ENST00000580469,;	uc002zng.3	c.4189_4190insG	4542-4543/9445	5	5			c.4189_4190insG						22	INS	c.(4189-4191)GAGfs	22	22				0	Broad	microtubule associated monoxygenase, calponin			18301238		0.644	ENSG00000243156	9393	g.chr22:18301237_18301238insC		cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding																				0.02	1	0	0	1	1	0	0	0	0	--	--		0	C			MICAL3_uc011agl.1_Frame_Shift_Ins_p.E1313fs|MICAL3_uc010gre.1_5'Flank	37	GBM-06-0174-TP	p.E1397fs	-	GGACAACGGCTCGCCTTCCGGC	NM_015241	NP_056056	18301237	Q7RTP6	MICA3_HUMAN	0		Lung(27;0.0427)	26	4542_4543	-	C	C		all_epithelial(15;0.198)	Frame_Shift_Ins	1397			Pro-rich.			
MICAL3	57553	broad.mit.edu	GRCh37	22	18301786	18301786	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000441493.2:c.3641C>T	p.Ser1214Leu	p.S1214L	ENST00000441493	NM_015241.2	1214	tCg/tTg	0			1			A	S/L	uc002zng.3	protein_coding	YES	CCDS46659.1			3641/6009										0	c.(3640-3642)TCG>TTG			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF218	microtubule associated monoxygenase, calponin				ENSP00000416015		26/32	1.66E-05	0.000121				1.63E-05			rs746205918,COSM160718	26/32	.		ENST00000441493	Transcript				cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	ENSG00000243156	g.chr22:18301786G>A	24694			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=MICA3_HUMAN&rb=1061&re=1249&var=S1214L	NA	getma.org/?cm=var&var=hg19,22,18301786,G,A&fts=all	S1214L	--	--	1																																		MICAL3_uc011agl.1_Missense_Mutation_p.S1130L	0,1	1		benign(0.006)	p.S1214L	NM_015241	NP_056056			0,1	MICA3_HUMAN	MICAL3	HGNC	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	C9J922_HUMAN,A8K0E1_HUMAN		26	3994	-		all_epithelial(15;0.198)	UPI0001823FDE	1214			Pro-rich.		SNV	MICAL3,missense_variant,p.Ser1214Leu,ENST00000441493,NM_015241.2;MICAL3,upstream_gene_variant,,ENST00000577821,;MICAL3,downstream_gene_variant,,ENST00000498573,;MICAL3,downstream_gene_variant,,ENST00000578984,;MICAL3,upstream_gene_variant,,ENST00000579997,;MICAL3,upstream_gene_variant,,ENST00000580469,;	uc002zng.3	c.3641C>T	3994/9445	2	2			c.3641C>T						22	SNP	c.(3640-3642)TCG>TTG	30	30				0	Broad	microtubule associated monoxygenase, calponin			18301786		0.622	ENSG00000243156	9393	g.chr22:18301786G>A		cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding							84.062989	KEEP	19	9	-1	6	15	19	9	-1	84.235955	6	15	0.565217	1	0	0	0	0	1	0	0	0	--	--		0	A			MICAL3_uc011agl.1_Missense_Mutation_p.S1130L	102	GBM-06-5858-TP	p.S1214L	G	TTTCAGATCCGAGGGGGCATC	NM_015241	NP_056056	18301786	Q7RTP6	MICA3_HUMAN	0		Lung(27;0.0427)	26	3994	-	A	A		all_epithelial(15;0.198)	Missense_Mutation	1214			Pro-rich.			
MICB	4277	broad.mit.edu	GRCh37	6	31474865	31474865	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01	TCGA-06-0185-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252229.6:c.680C>T	p.Ala227Val	p.A227V	ENST00000252229	NM_005931.3	227	gCt/gTt	0			1			T	A/V	uc003ntn.3	protein_coding	YES	CCDS43449.1			680/1152										0	c.(679-681)GCT>GTT			Gene3D:2.60.40.10,Pfam_domain:PF07654,PROSITE_profiles:PS50835,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF138,SMART_domains:SM00407,Superfamily_domains:SSF48726	MHC class I polypeptide-related sequence B				ENSP00000252229		6-Apr									COSM2150491	6-Apr	.		ENST00000252229	Transcript	1		antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding	ENSG00000204516	g.chr6:31474865C>T	7091			MODERATE		1.85	low	getma.org/?cm=msa&ty=f&p=MICB_HUMAN&rb=212&re=295&var=A227V	getma.org/pdb.php?prot=MICB_HUMAN&from=212&to=295&var=A227V	getma.org/?cm=var&var=hg19,6,31474865,C,T&fts=all	A227V	--	--	1																																		MICB_uc011dnm.1_Missense_Mutation_p.A195V|MICB_uc003nto.3_Missense_Mutation_p.A184V	1	1		probably_damaging(0.993)	p.A227V	NM_005931	NP_005922		deleterious(0)	1		MICB	HGNC	Q29980	MICB_HUMAN			F5H7Q8_HUMAN,D2KNA0_HUMAN		4	796	+			UPI0000457403	227			Ig-like C1-type.|Extracellular (Potential).		SNV	MICB,missense_variant,p.Ala227Val,ENST00000252229,NM_005931.3;MICB,missense_variant,p.Ala184Val,ENST00000399150,;MICB,missense_variant,p.Ala195Val,ENST00000538442,;MICB,non_coding_transcript_exon_variant,,ENST00000494577,;	uc003ntn.3	c.680C>T	759/2446	1	1			c.680C>T						6	SNP	c.(679-681)GCT>GTT	7	7				0	Broad	MHC class I polypeptide-related sequence B			31474865		0.587	ENSG00000204516	9397	g.chr6:31474865C>T	antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding							120.565878	KEEP	28	21	-1	51	63	28	21	-1	124.990993	51	63	0.312057	1	0	0	0	0	1	0	0	0	--	--		0	T			MICB_uc011dnm.1_Missense_Mutation_p.A195V|MICB_uc003nto.3_Missense_Mutation_p.A184V	40	GBM-06-0185-TP	p.A227V	C	ACATGCAGGGCTTCCAGCTTC	NM_005931	NP_005922	31474865	Q29980	MICB_HUMAN	0			4	796	+	T	T			Missense_Mutation	227			Ig-like C1-type.|Extracellular (Potential).			
MICB	0	broad.mit.edu	GRCh37	6	31474137	31474137	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-2502-01	TCGA-28-2502-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252229.6:c.543C>T	p.Arg181=	p.R181=	ENST00000252229	NM_005931.3	181	cgC/cgT	0			1			T	R	uc003ntn.3	protein_coding	YES	CCDS43449.1			543/1152										0	c.(541-543)CGC>CGT			Gene3D:3.30.500.10,Pfam_domain:PF00129,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF138,Superfamily_domains:SSF54452	MHC class I polypeptide-related sequence B				ENSP00000252229		6-Mar	5.79E-05					7.50E-05	0.00223		rs761060976,COSM3253114	6-Mar	.		ENST00000252229	Transcript	1		antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding	ENSG00000204516	g.chr6:31474137C>T	7091			LOW								--	--	1																																		MICB_uc011dnm.1_Silent_p.R149R|MICB_uc003nto.3_Silent_p.R138R	0,1	1			p.R181R	NM_005931	NP_005922			0,1		MICB	HGNC	Q29980	MICB_HUMAN			F5H7Q8_HUMAN,D2KNA0_HUMAN		3	659	+			UPI0000457403	181			Extracellular (Potential).		SNV	MICB,synonymous_variant,p.=,ENST00000252229,NM_005931.3;MICB,synonymous_variant,p.=,ENST00000399150,;MICB,synonymous_variant,p.=,ENST00000538442,;MICB,non_coding_transcript_exon_variant,,ENST00000494577,;	uc003ntn.3	c.543C>T	622/2446	2	2			c.543C>T						6	SNP	c.(541-543)CGC>CGT	44	44				0	Broad	MHC class I polypeptide-related sequence B			31474137		0.532	ENSG00000204516	9397	g.chr6:31474137C>T	antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding							65.345689	KEEP	9	18	-1	27	35	9	18	-1	67.988838	27	35	0.308642	1	0	0	0	0	0	0	1	0	--	--		0	T			MICB_uc011dnm.1_Silent_p.R149R|MICB_uc003nto.3_Silent_p.R138R	210	GBM-28-2502-TP	p.R181R	C	CACACTATCGCGCTATGCAGG	NM_005931	NP_005922	31474137	Q29980	MICB_HUMAN	0			3	659	+	T	T			Silent	181			Extracellular (Potential).			
MID1	4281		GRCh37	X	10535512	10535512	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000317552.4:c.76G>A	p.Ala26Thr	p.A26T	ENST00000317552	NM_033289.1	26	Gca/Aca	0																																																																																																																																																																																																																																												
MID2	11043	broad.mit.edu	GRCh37	X	107160914	107160914	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0882-01	TCGA-06-0882-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262843.6:c.1380G>T	p.Glu460Asp	p.E460D	ENST00000262843	NM_052817.2	460	gaG/gaT	0			1			T	E/D	uc004enl.2	protein_coding	YES	CCDS14532.2			1380/2208									ovary(1)	1	c.(1378-1380)GAG>GAT			hmmpanther:PTHR24103:SF319,hmmpanther:PTHR24103,SMART_domains:SM00060	midline 2 isoform 1				ENSP00000262843		10-Jul									COSM3405825,COSM3405824	10-Jul	.		ENST00000262843	Transcript	1			centrosome|microtubule	ligase activity|zinc ion binding	ENSG00000080561	g.chrX:107160914G>T	7096			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TRIM1_HUMAN&rb=398&re=531&var=E460D	getma.org/pdb.php?prot=TRIM1_HUMAN&from=398&to=531&var=E460D	getma.org/?cm=var&var=hg19,X,107160914,G,T&fts=all	E460D	--	--	1																																		MID2_uc004enk.2_Intron	1,1	1		benign(0)	p.E460D	NM_012216	NP_036348		tolerated(0.63)	1,1	TRIM1_HUMAN	MID2	HGNC	Q9UJV3	TRIM1_HUMAN			A6PVI4_HUMAN		7	1953	+			UPI0000D4F411	460			Fibronectin type-III.		SNV	MID2,missense_variant,p.Glu460Asp,ENST00000262843,NM_052817.2,NM_012216.3;MID2,intron_variant,,ENST00000443968,;RP6-191P20.4,intron_variant,,ENST00000430140,;MID2,intron_variant,,ENST00000474517,;	uc004enl.2	c.1380G>T	1928/2876	2	2			c.1380G>T						23	SNP	c.(1378-1380)GAG>GAT	17	17			ovary(1)	1	Broad	midline 2 isoform 1			107160914		0.468	ENSG00000080561	9400	g.chrX:107160914G>T		centrosome|microtubule	ligase activity|zinc ion binding							-23.186981	KEEP	4	5	0.444444444	88	87	4	5	0.444444444	15.224925	88	87	0.050279	1	0	0	0	0	1	0	0	0	--	--		0	T			MID2_uc004enk.2_Intron	77	GBM-06-0882-TP	p.E460D	G	TGTGGCCAGAGATAAGGAAAT	NM_012216	NP_036348	107160914	Q9UJV3	TRIM1_HUMAN	0			7	1953	+	T	T			Missense_Mutation	460			Fibronectin type-III.			
MID2	0	broad.mit.edu	GRCh37	X	107084402	107084402	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262843.6:c.507G>A	p.Thr169=	p.T169=	ENST00000262843	NM_052817.2	169	acG/acA	0			1			A	T	uc004enl.2	protein_coding	YES	CCDS14532.2			507/2208									ovary(1)	1	c.(505-507)ACG>ACA			hmmpanther:PTHR24103:SF319,hmmpanther:PTHR24103,SMART_domains:SM00336	midline 2 isoform 1				ENSP00000262843		10-Feb	4.12E-05		0.000108			4.20E-05			rs376601333,COSM2736430,COSM2736429	10-Feb	.		ENST00000262843	Transcript	1			centrosome|microtubule	ligase activity|zinc ion binding	ENSG00000080561	g.chrX:107084402G>A	7096			LOW								--	--	1																																		MID2_uc004enk.2_Silent_p.T169T	0,1,1	1			p.T169T	NM_012216	NP_036348			0,1,1	TRIM1_HUMAN	MID2	HGNC	Q9UJV3	TRIM1_HUMAN			A6PVI4_HUMAN		2	1080	+			UPI0000D4F411	169			B box-type 1; degenerate.		SNV	MID2,synonymous_variant,p.=,ENST00000262843,NM_052817.2,NM_012216.3;MID2,synonymous_variant,p.=,ENST00000443968,;MID2,synonymous_variant,p.=,ENST00000451923,;	uc004enl.2	c.507G>A	1055/2876	1	1			c.507G>A						23	SNP	c.(505-507)ACG>ACA	60	60			ovary(1)	1	Broad	midline 2 isoform 1			107084402		0.552	ENSG00000080561	9400	g.chrX:107084402G>A		centrosome|microtubule	ligase activity|zinc ion binding							84.80632	KEEP	12	19	-1	32	37	12	19	-1	87.685862	32	37	0.316327	1	0	0	0	0	0	0	1	0	--	--		0	A			MID2_uc004enk.2_Silent_p.T169T	232	GBM-32-1982-TP	p.T169T	G	TGCGGGCCACGCACCCCAACA	NM_012216	NP_036348	107084402	Q9UJV3	TRIM1_HUMAN	0			2	1080	+	A	A			Silent	169			B box-type 1; degenerate.			
MID2	11043		GRCh37	X	107160962	107160962	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000262843.6:c.1428G>A	p.Ala476=	p.A476=	ENST00000262843	NM_052817.2	476	gcG/gcA	0																																																																																																																																																																																																																																												
MIDN	0	broad.mit.edu	GRCh37	19	1250466	1250466	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-12-0615-01	TCGA-12-0615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300952.2:c.171C>G	p.Arg57=	p.R57=	ENST00000300952	NM_177401.4	57	cgC/cgG	0			1			G	R	uc002lrp.2	protein_coding	YES	CCDS32864.1			171/1407										0	c.(169-171)CGC>CGG			Gene3D:3.10.20.90,Pfam_domain:PF00240,PROSITE_profiles:PS50053,hmmpanther:PTHR23010,hmmpanther:PTHR23010:SF0,SMART_domains:SM00213,Superfamily_domains:SSF54236	midnolin				ENSP00000300952		8-Feb									COSM3403770	8-Feb	.		ENST00000300952	Transcript				nucleolus		ENSG00000167470	g.chr19:1250466C>G	16298			LOW								--	--	1																																			1	1			p.R57R	NM_177401	NP_796375			1	MIDN_HUMAN	MIDN	HGNC	Q504T8	MIDN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	K7END3_HUMAN		2	686	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	UPI0000202EF1	57			Ubiquitin-like.		SNV	MIDN,synonymous_variant,p.=,ENST00000300952,NM_177401.4;MIDN,synonymous_variant,p.=,ENST00000591446,;MIDN,synonymous_variant,p.=,ENST00000586757,;MIDN,upstream_gene_variant,,ENST00000586843,;MIDN,upstream_gene_variant,,ENST00000590136,;MIDN,upstream_gene_variant,,ENST00000591302,;	uc002lrp.2	c.171C>G	686/3790	3	3			c.171C>G						19	SNP	c.(169-171)CGC>CGG	9	9				0	Broad	midnolin			1250466		0.493	ENSG00000167470	9401	g.chr19:1250466C>G		nucleolus								40.241556	KEEP	8	7	-1	7	6	8	7	-1	40.397854	7	6	0.590909	1	0	0	0	0	0	0	1	0	--	--		0	G				117	GBM-12-0615-TP	p.R57R	C	AGGGGCTGCGCAAGCGGTTGT	NM_177401	NP_796375	1250466	Q504T8	MIDN_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	686	+	G	G		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	Silent	57			Ubiquitin-like.			
MIDN	0	broad.mit.edu	GRCh37	19	1257138	1257138	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300952.2:c.1274G>A	p.Gly425Asp	p.G425D	ENST00000300952	NM_177401.4	425	gGc/gAc	0			1			A	G/D	uc002lrp.2	protein_coding	YES	CCDS32864.1			1274/1407										0	c.(1273-1275)GGC>GAC			hmmpanther:PTHR23010,hmmpanther:PTHR23010:SF0,Low_complexity_(Seg):seg	midnolin				ENSP00000300952		8-Aug									COSM3403772	8-Aug	.		ENST00000300952	Transcript				nucleolus		ENSG00000167470	g.chr19:1257138G>A	16298			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=MIDN_HUMAN&rb=301&re=468&var=G425D	NA	getma.org/?cm=var&var=hg19,19,1257138,G,A&fts=all	G425D	--	--	1																																			1	1		probably_damaging(0.931)	p.G425D	NM_177401	NP_796375		tolerated(0.15)	1	MIDN_HUMAN	MIDN	HGNC	Q504T8	MIDN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	K7END3_HUMAN		8	1789	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	UPI0000202EF1	425					SNV	MIDN,missense_variant,p.Gly425Asp,ENST00000300952,NM_177401.4;MIDN,missense_variant,p.Gly425Asp,ENST00000591446,;CIRBP,upstream_gene_variant,,ENST00000588030,;CIRBP,upstream_gene_variant,,ENST00000588411,;CIRBP,upstream_gene_variant,,ENST00000592051,;MIDN,downstream_gene_variant,,ENST00000586843,;CIRBP,upstream_gene_variant,,ENST00000592467,;CIRBP,upstream_gene_variant,,ENST00000589161,;CIRBP,upstream_gene_variant,,ENST00000591622,;MIDN,downstream_gene_variant,,ENST00000590136,;MIDN,downstream_gene_variant,,ENST00000591302,;	uc002lrp.2	c.1274G>A	1789/3790	2	2			c.1274G>A						19	SNP	c.(1273-1275)GGC>GAC	38	38				0	Broad	midnolin			1257138		0.697	ENSG00000167470	9401	g.chr19:1257138G>A		nucleolus								35.992253	KEEP	7	16	-1	28	39	7	16	-1	37.97516	28	39	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	A				220	GBM-28-5213-TP	p.G425D	G	CGCAAGGCCGGCCGCAGCGAC	NM_177401	NP_796375	1257138	Q504T8	MIDN_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1789	+	A	A		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	Missense_Mutation	425						
MIDN	0	broad.mit.edu	GRCh37	19	1257154	1257154	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-76-6285-01	TCGA-76-6285-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300952.2:c.1290T>G	p.Ser430Arg	p.S430R	ENST00000300952	NM_177401.4	430	agT/agG	0			1			G	S/R	uc002lrp.2	protein_coding	YES	CCDS32864.1			1290/1407										0	c.(1288-1290)AGT>AGG			hmmpanther:PTHR23010,hmmpanther:PTHR23010:SF0,Low_complexity_(Seg):seg	midnolin				ENSP00000300952		8-Aug									COSM3748042	8-Aug	.		ENST00000300952	Transcript				nucleolus		ENSG00000167470	g.chr19:1257154T>G	16298			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=MIDN_HUMAN&rb=301&re=468&var=S430R	NA	getma.org/?cm=var&var=hg19,19,1257154,T,G&fts=all	S430R	--	--	1																																			1	1		benign(0.307)	p.S430R	NM_177401	NP_796375		tolerated(0.14)	1	MIDN_HUMAN	MIDN	HGNC	Q504T8	MIDN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	K7END3_HUMAN		8	1805	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	UPI0000202EF1	430					SNV	MIDN,missense_variant,p.Ser430Arg,ENST00000300952,NM_177401.4;MIDN,missense_variant,p.Ser430Arg,ENST00000591446,;CIRBP,upstream_gene_variant,,ENST00000588030,;CIRBP,upstream_gene_variant,,ENST00000588411,;CIRBP,upstream_gene_variant,,ENST00000592051,;MIDN,downstream_gene_variant,,ENST00000586843,;CIRBP,upstream_gene_variant,,ENST00000592467,;CIRBP,upstream_gene_variant,,ENST00000589161,;CIRBP,upstream_gene_variant,,ENST00000591622,;MIDN,downstream_gene_variant,,ENST00000590136,;MIDN,downstream_gene_variant,,ENST00000591302,;	uc002lrp.2	c.1290T>G	1805/3790	4	4			c.1290T>G						19	SNP	c.(1288-1290)AGT>AGG	18	18				0	Broad	midnolin			1257154		0.682	ENSG00000167470	9401	g.chr19:1257154T>G		nucleolus								87.176282	KEEP	18	22	-1	21	23	18	22	-1	87.212767	21	23	0.471698	1	0	0	0	0	1	0	0	0	--	--		0	G				280	GBM-76-6285-TP	p.S430R	T	GCGACAGCAGTAGCAGCGGGG	NM_177401	NP_796375	1257154	Q504T8	MIDN_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1805	+	G	G		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	Missense_Mutation	430						
MIEF2	0	broad.mit.edu	GRCh37	17	18167560	18167560	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-27-1836-01	TCGA-27-1836-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323019.4:c.847A>G	p.Met283Val	p.M283V	ENST00000323019	NM_139162.3	283	Atg/Gtg	0			1			G	M/V	uc002gst.2	protein_coding		CCDS11193.1			847/1365										0	c.(847-849)ATG>GTG			hmmpanther:PTHR16451:SF10,hmmpanther:PTHR16451	Smith-Magenis syndrome chromosome region,				ENSP00000323591		4-Apr									COSM3402648	4-Apr	.		ENST00000323019	Transcript				integral to membrane	protein binding	ENSG00000177427	g.chr17:18167560A>G	17920			MODERATE		-1.655	neutral	getma.org/?cm=msa&ty=f&p=MID49_HUMAN&rb=201&re=400&var=M283V	NA	getma.org/?cm=var&var=hg19,17,18167560,A,G&fts=all	M283V	--	--	1																																		SMCR7_uc002gsu.2_3'UTR|SMCR7_uc010vxq.1_Missense_Mutation_p.M294V	1			benign(0)	p.M283V	NM_139162	NP_631901		tolerated(1)	1	MID49_HUMAN	MIEF2	HGNC	Q96C03	SMCR7_HUMAN					4	1058	+	all_neural(463;0.228)		UPI0000071A1E	283					SNV	MIEF2,missense_variant,p.Met283Val,ENST00000323019,NM_139162.3,NM_001144900.1;MIEF2,missense_variant,p.Met294Val,ENST00000395706,NM_148886.1;MIEF2,3_prime_UTR_variant,,ENST00000395704,;MIEF2,downstream_gene_variant,,ENST00000395703,;MIEF2,downstream_gene_variant,,ENST00000578174,;MIEF2,downstream_gene_variant,,ENST00000579341,;MIEF2,downstream_gene_variant,,ENST00000578621,;RP1-178F10.1,upstream_gene_variant,,ENST00000566532,;MIEF2,downstream_gene_variant,,ENST00000577216,;MIEF2,downstream_gene_variant,,ENST00000583745,;	uc002gst.2	c.847A>G	1058/3364	3	3			c.847A>G						17	SNP	c.(847-849)ATG>GTG	11	11				0	Broad	Smith-Magenis syndrome chromosome region,			18167560		0.667	ENSG00000177427	14561	g.chr17:18167560A>G		integral to membrane	protein binding							27.308004	KEEP	11	4	-1	19	14	11	4	-1	28.818678	19	14	0.289474	1	0	0	0	0	1	0	0	0	--	--		0	G			SMCR7_uc002gsu.2_3'UTR|SMCR7_uc010vxq.1_Missense_Mutation_p.M294V	195	GBM-27-1836-TP	p.M283V	A	CCGGCCCAGCATGGCCTCGGA	NM_139162	NP_631901	18167560	Q96C03	SMCR7_HUMAN	0			4	1058	+	G	G	all_neural(463;0.228)		Missense_Mutation	283						
MIEF2	125170		GRCh37	17	18167942	18167942	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000395706.2:c.1262G>A	p.Gly421Asp	p.G421D	ENST00000395706	NM_148886.1	421	gGc/gAc	0																																																																																																																																																																																																																																												
MIER2	0	broad.mit.edu	GRCh37	19	307371	307371	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-2624-01	TCGA-19-2624-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264819.4:c.1364A>G	p.Tyr455Cys	p.Y455C	ENST00000264819	NM_017550.1	455	tAc/tGc	0			1			C	Y/C	uc002lok.1	protein_coding	YES	CCDS32855.1			1364/1638										0	c.(1363-1365)TAC>TGC			hmmpanther:PTHR10865,hmmpanther:PTHR10865:SF27	mesoderm induction early response 1, family				ENSP00000264819		13/14									COSM3748050	13/14	.		ENST00000264819	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	ENSG00000105556	g.chr19:307371T>C	29210			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=MIER2_HUMAN&rb=389&re=543&var=Y455C	NA	getma.org/?cm=var&var=hg19,19,307371,T,C&fts=all	Y455C	--	--	1																																			1	1		benign(0.005)	p.Y455C	NM_017550	NP_060020		tolerated(0.06)	1	MIER2_HUMAN	MIER2	HGNC	Q8N344	MIER2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)			13	1373	-		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)	UPI00001AE8C2	455					SNV	MIER2,missense_variant,p.Tyr455Cys,ENST00000264819,NM_017550.1;CTD-3113P16.5,downstream_gene_variant,,ENST00000591533,;	uc002lok.1	c.1364A>G	1375/2764	3	3			c.1364A>G						19	SNP	c.(1363-1365)TAC>TGC	1	1				0	Broad	mesoderm induction early response 1, family			307371		0.687	ENSG00000105556	9403	g.chr19:307371T>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding							5.745201	KEEP	2	0	-1	5	7	2	0	-1	6.789725	5	7	0.181818	1	0	0	0	0	1	0	0	0	--	--		0	C				164	GBM-19-2624-TP	p.Y455C	T	AGCTGGCTGGTATGAGGCTGG	NM_017550	NP_060020	307371	Q8N344	MIER2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1373	-	C	C		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)	Missense_Mutation	455						
MIER2	54531		GRCh37	19	313632	313632	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000264819.4:c.667G>A	p.Glu223Lys	p.E223K	ENST00000264819	NM_017550.1	223	Gaa/Aaa	0																																																																																																																																																																																																																																												
MINA	0	broad.mit.edu	GRCh37	3	97664110	97664110	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-27-2521-01	TCGA-27-2521-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333396.7:c.1316A>G	p.Lys439Arg	p.K439R	ENST00000333396	NM_001042533.2	439	aAg/aGg	0			1			C	K/R	uc003drz.1	protein_coding	YES	CCDS43114.1			1316/1398									ovary(1)	1	c.(1315-1317)AAG>AGG			hmmpanther:PTHR13096	MYC induced nuclear antigen isoform a				ENSP00000328251		10-Oct									COSM3408912	10-Oct	.		ENST00000333396	Transcript			ribosome biogenesis	cytoplasm|nucleolus		ENSG00000170854	g.chr3:97664110T>C	19441			MODERATE		2.585	medium	getma.org/?cm=msa&ty=f&p=MINA_HUMAN&rb=365&re=465&var=K439R	getma.org/pdb.php?prot=MINA_HUMAN&from=365&to=465&var=K439R	getma.org/?cm=var&var=hg19,3,97664110,T,C&fts=all	K439R	--	--	1																																		MINA_uc003dry.1_Missense_Mutation_p.K110R|MINA_uc003dsa.1_Missense_Mutation_p.K438R|MINA_uc003dsb.1_Missense_Mutation_p.K439R|MINA_uc003dsc.1_Missense_Mutation_p.K438R	1	1		benign(0.031)	p.K439R	NM_001042533	NP_001035998		tolerated(0.13)	1	MINA_HUMAN	MINA	HGNC	Q8IUF8	MINA_HUMAN			D6RCB6_HUMAN		10	1822	-			UPI0000074784	439					SNV	MINA,missense_variant,p.Lys439Arg,ENST00000333396,NM_001042533.2,NM_032778.5;MINA,missense_variant,p.Lys439Arg,ENST00000394198,NM_001261829.1,NM_153182.3;MINA,missense_variant,p.Lys438Arg,ENST00000360258,;CRYBG3,downstream_gene_variant,,ENST00000182096,NM_153605.3;CRYBG3,downstream_gene_variant,,ENST00000389622,;MINA,downstream_gene_variant,,ENST00000503097,;CRYBG3,downstream_gene_variant,,ENST00000495403,;CRYBG3,downstream_gene_variant,,ENST00000485253,;MINA,non_coding_transcript_exon_variant,,ENST00000506682,;MINA,non_coding_transcript_exon_variant,,ENST00000503517,;MINA,downstream_gene_variant,,ENST00000514314,;	uc003drz.1	c.1316A>G	1899/5347	3	3			c.1316A>G						3	SNP	c.(1315-1317)AAG>AGG	1	1			ovary(1)	1	Broad	MYC induced nuclear antigen isoform a			97664110		0.383	ENSG00000170854	9408	g.chr3:97664110T>C	ribosome biogenesis	cytoplasm|nucleolus								35.690415	KEEP	15	15	-1	110	115	15	15	-1	73.609869	110	115	0.103306	1	0	0	0	0	1	0	0	0	--	--		0	C			MINA_uc003dry.1_Missense_Mutation_p.K110R|MINA_uc003dsa.1_Missense_Mutation_p.K438R|MINA_uc003dsb.1_Missense_Mutation_p.K439R|MINA_uc003dsc.1_Missense_Mutation_p.K438R	200	GBM-27-2521-TP	p.K439R	T	TTTCAGGTCCTTGACAGAAAT	NM_001042533	NP_001035998	97664110	Q8IUF8	MINA_HUMAN	0			10	1822	-	C	C			Missense_Mutation	439						
MINA	0	broad.mit.edu	GRCh37	3	97669652	97669652	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01	TCGA-28-5204-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333396.7:c.866G>A	p.Gly289Asp	p.G289D	ENST00000333396	NM_001042533.2	289	gGc/gAc	0			1			T	G/D	uc003drz.1	protein_coding	YES	CCDS43114.1			866/1398									ovary(1)	1	c.(865-867)GGC>GAC			hmmpanther:PTHR13096,Pfam_domain:PF08007,Superfamily_domains:SSF51197	MYC induced nuclear antigen isoform a				ENSP00000328251		10-Jun									COSM1538540	10-Jun	.		ENST00000333396	Transcript			ribosome biogenesis	cytoplasm|nucleolus		ENSG00000170854	g.chr3:97669652C>T	19441			MODERATE		2.77	medium	getma.org/?cm=msa&ty=f&p=MINA_HUMAN&rb=51&re=364&var=G289D	getma.org/pdb.php?prot=MINA_HUMAN&from=51&to=364&var=G289D	getma.org/?cm=var&var=hg19,3,97669652,C,T&fts=all	G289D	--	--	1																																		MINA_uc003dry.1_5'Flank|MINA_uc003dsa.1_Missense_Mutation_p.G289D|MINA_uc003dsb.1_Missense_Mutation_p.G289D|MINA_uc003dsc.1_Missense_Mutation_p.G289D|MINA_uc010hpa.1_RNA	1	1		probably_damaging(0.982)	p.G289D	NM_001042533	NP_001035998		deleterious(0.01)	1	MINA_HUMAN	MINA	HGNC	Q8IUF8	MINA_HUMAN			D6RCB6_HUMAN		6	1372	-			UPI0000074784	289					SNV	MINA,missense_variant,p.Gly289Asp,ENST00000333396,NM_001042533.2,NM_032778.5;MINA,missense_variant,p.Gly289Asp,ENST00000394198,NM_001261829.1,NM_153182.3;MINA,missense_variant,p.Gly289Asp,ENST00000360258,;MINA,downstream_gene_variant,,ENST00000330299,;MINA,downstream_gene_variant,,ENST00000507612,;MINA,upstream_gene_variant,,ENST00000503097,;MINA,3_prime_UTR_variant,,ENST00000514314,;MINA,non_coding_transcript_exon_variant,,ENST00000503517,;MINA,upstream_gene_variant,,ENST00000506682,;	uc003drz.1	c.866G>A	1449/5347	2	2			c.866G>A						3	SNP	c.(865-867)GGC>GAC	21	21			ovary(1)	1	Broad	MYC induced nuclear antigen isoform a			97669652		0.532	ENSG00000170854	9408	g.chr3:97669652C>T	ribosome biogenesis	cytoplasm|nucleolus								-45.014377	KEEP	0	6	-1	122	121	0	6	-1	7.373299	122	121	0.024038	1	0	0	0	0	1	0	0	0	--	--		0	T			MINA_uc003dry.1_5'Flank|MINA_uc003dsa.1_Missense_Mutation_p.G289D|MINA_uc003dsb.1_Missense_Mutation_p.G289D|MINA_uc003dsc.1_Missense_Mutation_p.G289D|MINA_uc010hpa.1_RNA	215	GBM-28-5204-TP	p.G289D	C	CCGGGGTATGCCGGTCCGTAA	NM_001042533	NP_001035998	97669652	Q8IUF8	MINA_HUMAN	0			6	1372	-	T	T			Missense_Mutation	289						
MIOS	0	broad.mit.edu	GRCh37	7	7612689	7612689	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-87-5896-01	TCGA-87-5896-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340080.4:c.583C>T	p.Arg195Ter	p.R195*	ENST00000340080	NM_019005.3	195	Cga/Tga	0			1			T	R/*	uc003srf.2	protein_coding	YES	CCDS43554.1			583/2628										0	c.(583-585)CGA>TGA			hmmpanther:PTHR16453,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	missing oocyte, meiosis regulator, homolog				ENSP00000339881		13-Apr									COSM3412309	13-Apr	.		ENST00000340080	Transcript						ENSG00000164654	g.chr7:7612689C>T	21905			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,7612689,C,T&fts=all	R195*	--	--	1																																		MIOS_uc010ktp.1_Nonsense_Mutation_p.R195*	1	1			p.R195*	NM_019005	NP_061878			1	MIO_HUMAN	MIOS	HGNC	Q9NXC5	MIO_HUMAN			C9JUE6_HUMAN,C9JTV2_HUMAN,C9JAQ1_HUMAN		4	891	+			UPI000020EB0B	195			WD 3.		SNV	MIOS,stop_gained,p.Arg195Ter,ENST00000340080,NM_019005.3;MIOS,stop_gained,p.Arg195Ter,ENST00000405785,;MIOS,downstream_gene_variant,,ENST00000456533,;MIOS,downstream_gene_variant,,ENST00000433056,;MIOS,downstream_gene_variant,,ENST00000433635,;MIOS,downstream_gene_variant,,ENST00000445169,;	uc003srf.2	c.583C>T	1004/3453	5	2			c.583C>T						7	SNP	c.(583-585)CGA>TGA	46	46				0	Broad	missing oocyte, meiosis regulator, homolog			7612689		0.383	ENSG00000164654	9411	g.chr7:7612689C>T										43.545095	KEEP	10	7	-1	16	31	10	7	-1	46.722553	16	31	0.265625	1	0	0	0	0	0	1	0	0	--	--		0	T			MIOS_uc010ktp.1_Nonsense_Mutation_p.R195*	291	GBM-87-5896-TP	p.R195*	C	TTGGCTTCCACGAGACCAGAA	NM_019005	NP_061878	7612689	Q9NXC5	MIO_HUMAN	0			4	891	+	T	T			Nonsense_Mutation	195			WD 3.			
MIPEP	0	broad.mit.edu	GRCh37	13	24448985	24448985	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T			TCGA-28-2514-01	TCGA-28-2514-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382172.3:c.603G>A	p.Lys201=	p.K201=	ENST00000382172	NM_005932.3	201	aaG/aaA	0			1			T	K	uc001uox.3	protein_coding	YES	CCDS9303.1			603/2142									central_nervous_system(1)	1	c.(601-603)AAG>AAA			hmmpanther:PTHR11804:SF5,hmmpanther:PTHR11804,Gene3D:2o36A02,Superfamily_domains:SSF55486	mitochondrial intermediate peptidase precursor				ENSP00000371607		19-May									COSM3747942	19-May	.		ENST00000382172	Transcript			protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	ENSG00000027001	g.chr13:24448985C>T	7104			LOW								--	--	1																																			1	1			p.K201K	NM_005932	NP_005923			1	MIPEP_HUMAN	MIPEP	HGNC	Q99797	MIPEP_HUMAN		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)			5	703	-		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)	UPI000013C54A	201					SNV	MIPEP,splice_region_variant,p.=,ENST00000382172,NM_005932.3;MIPEP,upstream_gene_variant,,ENST00000494139,;	uc001uox.3	c.603G>A	702/2400	2	2			c.603G>A						13	SNP	c.(601-603)AAG>AAA	47	47			central_nervous_system(1)	1	Broad	mitochondrial intermediate peptidase precursor			24448985		0.333	ENSG00000027001	9414	g.chr13:24448985C>T	protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity							235.969014	KEEP	39	47	-1	112	69	39	47	-1	242.232288	112	69	0.327731	1	0	0	0	0	0	0	1	0	--	--		0	T				214	GBM-28-2514-TP	p.K201K	C	AAAGATGTACCTTTTCTTTGT	NM_005932	NP_005923	24448985	Q99797	MIPEP_HUMAN	0		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)	5	703	-	T	T		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)	Silent	201						
MIS12	79003	broad.mit.edu	GRCh37	17	5392643	5392643	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0141-01	TCGA-06-0141-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381165.3:c.461A>G	p.Gln154Arg	p.Q154R	ENST00000381165	NM_024039.2	154	cAg/cGg	0			1			G	Q/R	uc002gcd.2	protein_coding	YES	CCDS11074.1			461/618										0	c.(460-462)CAG>CGG			Pfam_domain:PF05859,hmmpanther:PTHR14527	MIS12 homolog				ENSP00000370557		3-Mar									COSM3403029	3-Mar	.		ENST00000381165	Transcript			cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	ENSG00000167842	g.chr17:5392643A>G	24967			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=MIS12_HUMAN&rb=8&re=155&var=Q154R	NA	getma.org/?cm=var&var=hg19,17,5392643,A,G&fts=all	Q154R	--	--	1																																		MIS12_uc002gce.2_Missense_Mutation_p.Q154R	1	1		benign(0.006)	p.Q154R	NM_024039	NP_076944		tolerated(0.18)	1	MIS12_HUMAN	MIS12	HGNC	Q9H081	MIS12_HUMAN			I3L4K6_HUMAN,I3L244_HUMAN		2	790	+			UPI0000037DAC	154			Potential.		SNV	MIS12,missense_variant,p.Gln154Arg,ENST00000381165,NM_024039.2,NM_001258220.1,NM_001258219.1,NM_001258217.1;MIS12,missense_variant,p.Gln154Arg,ENST00000573759,NM_001258218.1;DERL2,upstream_gene_variant,,ENST00000158771,NM_016041.3;MIS12,downstream_gene_variant,,ENST00000576570,;DERL2,upstream_gene_variant,,ENST00000570848,;DERL2,upstream_gene_variant,,ENST00000571971,;DERL2,upstream_gene_variant,,ENST00000572834,;MIS12,downstream_gene_variant,,ENST00000576988,;DERL2,upstream_gene_variant,,ENST00000571968,;MIS12,downstream_gene_variant,,ENST00000574186,;DERL2,upstream_gene_variant,,ENST00000574700,;DERL2,upstream_gene_variant,,ENST00000573637,;DERL2,upstream_gene_variant,,ENST00000575209,;DERL2,upstream_gene_variant,,ENST00000576551,;DERL2,upstream_gene_variant,,ENST00000571476,;DERL2,upstream_gene_variant,,ENST00000574952,;	uc002gcd.2	c.461A>G	1014/2505	3	3			c.461A>G						17	SNP	c.(460-462)CAG>CGG	49	49				0	Broad	MIS12 homolog			5392643		0.393	ENSG00000167842	9416	g.chr17:5392643A>G	cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding							-80.7061	KEEP	5	2	-1	209	188	5	2	-1	12.382039	209	188	0.019499	1	0	0	0	0	1	0	0	0	--	--		0	G			MIS12_uc002gce.2_Missense_Mutation_p.Q154R	21	GBM-06-0141-TP	p.Q154R	A	AAACTCAAACAGACGTTGACT	NM_024039	NP_076944	5392643	Q9H081	MIS12_HUMAN	0			2	790	+	G	G			Missense_Mutation	154			Potential.			
MISP	126353		GRCh37	19	757476	757476	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000215582.6:c.530G>A	p.Arg177Gln	p.R177Q	ENST00000215582	NM_173481.2	177	cGg/cAg	0																																																																																																																																																																																																																																												
MKI67	4288	broad.mit.edu	GRCh37	10	129913850	129913850	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0649-01	TCGA-06-0649-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368654.3:c.822A>T	p.Lys274Asn	p.K274N	ENST00000368654	NM_002417.4	274	aaA/aaT	0			1			A	K/N	uc001lke.2	protein_coding	YES	CCDS7659.1			822/9771									ovary(4)|central_nervous_system(2)|skin(1)	7	c.(820-822)AAA>AAT			hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF3	antigen identified by monoclonal antibody Ki-67				ENSP00000357643		15-Jul									COSM3396989	15-Jul	.		ENST00000368654	Transcript			cell proliferation	nucleolus	ATP binding|protein C-terminus binding	ENSG00000148773	g.chr10:129913850T>A	7107			MODERATE		-0.205	neutral	getma.org/?cm=msa&ty=f&p=KI67_HUMAN&rb=101&re=492&var=K274N	NA	getma.org/?cm=var&var=hg19,10,129913850,T,A&fts=all	K274N	--	--	1																																		MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	1	1		benign(0.063)	p.K274N	NM_002417	NP_002408		tolerated(0.15)	1	KI67_HUMAN	MKI67	HGNC	P46013	KI67_HUMAN					7	1017	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	UPI000013DB54	274					SNV	MKI67,missense_variant,p.Lys274Asn,ENST00000368654,NM_002417.4;MKI67,intron_variant,,ENST00000368653,NM_001145966.1;MKI67,non_coding_transcript_exon_variant,,ENST00000478293,;MKI67,upstream_gene_variant,,ENST00000484853,;	uc001lke.2	c.822A>T	1198/12678	1	1			c.822A>T						10	SNP	c.(820-822)AAA>AAT	62	62			ovary(4)|central_nervous_system(2)|skin(1)	7	Broad	antigen identified by monoclonal antibody Ki-67			129913850		0.443	ENSG00000148773	9420	g.chr10:129913850T>A	cell proliferation	nucleolus	ATP binding|protein C-terminus binding							-4.711194	KEEP	2	4	-1	48	24	2	4	-1	9.080878	48	24	0.078947	1	0	0	0	0	1	0	0	0	--	--		0	A			MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	62	GBM-06-0649-TP	p.K274N	T	CAGCACTTTCTTTCTCTGTTG	NM_002417	NP_002408	129913850	P46013	KI67_HUMAN	0			7	1017	-	A	A		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	Missense_Mutation	274						
MKI67	0	broad.mit.edu	GRCh37	10	129905312	129905312	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-14-1450-01	TCGA-14-1450-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368654.3:c.4792C>T	p.Arg1598Ter	p.R1598*	ENST00000368654	NM_002417.4	1598	Cga/Tga	0			1			A	R/*	uc001lke.2	protein_coding	YES	CCDS7659.1			4792/9771									ovary(4)|central_nervous_system(2)|skin(1)	7	c.(4792-4794)CGA>TGA			hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF3,Pfam_domain:PF08065	antigen identified by monoclonal antibody Ki-67				ENSP00000357643		13/15	8.24E-06							6.06E-05	rs746363806,COSM3396988	13/15	.		ENST00000368654	Transcript			cell proliferation	nucleolus	ATP binding|protein C-terminus binding	ENSG00000148773	g.chr10:129905312G>A	7107			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,10,129905312,G,A&fts=all	R1598*	--	--	1																																		MKI67_uc001lkf.2_Nonsense_Mutation_p.R1238*|MKI67_uc009yav.1_Nonsense_Mutation_p.R1173*|MKI67_uc009yaw.1_Nonsense_Mutation_p.R748*	0,1	1			p.R1598*	NM_002417	NP_002408			0,1	KI67_HUMAN	MKI67	HGNC	P46013	KI67_HUMAN					13	4987	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	UPI000013DB54	1598			5.|16 X 122 AA approximate repeats.		SNV	MKI67,stop_gained,p.Arg1598Ter,ENST00000368654,NM_002417.4;MKI67,stop_gained,p.Arg1238Ter,ENST00000368653,NM_001145966.1;MKI67,downstream_gene_variant,,ENST00000484853,;MKI67,upstream_gene_variant,,ENST00000464771,;	uc001lke.2	c.4792C>T	5168/12678	5	2			c.4792C>T						10	SNP	c.(4792-4794)CGA>TGA	21	21			ovary(4)|central_nervous_system(2)|skin(1)	7	Broad	antigen identified by monoclonal antibody Ki-67			129905312		0.488	ENSG00000148773	9420	g.chr10:129905312G>A	cell proliferation	nucleolus	ATP binding|protein C-terminus binding							262.705758	KEEP	59	48	-1	58	60	59	48	-1	262.91331	58	60	0.465686	1	0	0	0	0	0	1	0	0	--	--		0	A			MKI67_uc001lkf.2_Nonsense_Mutation_p.R1238*|MKI67_uc009yav.1_Nonsense_Mutation_p.R1173*|MKI67_uc009yaw.1_Nonsense_Mutation_p.R748*	145	GBM-14-1450-TP	p.R1598*	G	GTGTGACCTCGTGTCTGGAAG	NM_002417	NP_002408	129905312	P46013	KI67_HUMAN	0			13	4987	-	A	A		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	Nonsense_Mutation	1598			5.|16 X 122 AA approximate repeats.			
MKI67	0	broad.mit.edu	GRCh37	10	129901939	129901947	+	inframe_deletion	In_Frame_Del	DEL	CTCTTTGTG	CTCTTTGTG	-	rs1050767	byFrequency;by1000genomes	TCGA-28-2514-01	TCGA-28-2514-01	CTCTTTGTG	CTCTTTGTG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368654.3:c.8157_8165delCACAAAGAG	p.Ser2719_Lys2721del	p.S2719_K2721del	ENST00000368654	NM_002417.4	2719	agCACAAAGAGg/agg	0			1			-	STKR/R	uc001lke.2	protein_coding	YES	CCDS7659.1			8157-8165/9771									ovary(4)|central_nervous_system(2)|skin(1)	7	c.(8155-8166)AGCACAAAGAGG>AGG			hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF3,Pfam_domain:PF08065	antigen identified by monoclonal antibody Ki-67				ENSP00000357643		13/15										13/15	.		ENST00000368654	Transcript			cell proliferation	nucleolus	ATP binding|protein C-terminus binding	ENSG00000148773	g.chr10:129901939_129901947delCTCTTTGTG	7107			MODERATE								--	--	1																																		MKI67_uc001lkf.2_In_Frame_Del_p.STK2359del|MKI67_uc009yav.1_In_Frame_Del_p.STK2294del|MKI67_uc009yaw.1_In_Frame_Del_p.STK1869del		1			p.STK2719del	NM_002417	NP_002408				KI67_HUMAN	MKI67	HGNC	P46013	KI67_HUMAN					13	8352_8360	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	UPI000013DB54	2719_2721			16 X 122 AA approximate repeats.|15.		deletion	MKI67,inframe_deletion,p.Ser2719_Lys2721del,ENST00000368654,NM_002417.4;MKI67,inframe_deletion,p.Ser2359_Lys2361del,ENST00000368653,NM_001145966.1;MKI67,upstream_gene_variant,,ENST00000464771,;	uc001lke.2	c.8157_8165delCACAAAGAG	8533-8541/12678	5	5			c.8157_8165delCACAAAGAG						10	DEL	c.(8155-8166)AGCACAAAGAGG>AGG	30	30			ovary(4)|central_nervous_system(2)|skin(1)	7	Broad	antigen identified by monoclonal antibody Ki-67			129901947		0.483	ENSG00000148773	9420	g.chr10:129901939_129901947delCTCTTTGTG	cell proliferation	nucleolus	ATP binding|protein C-terminus binding																				0.67	1	1	0	1	0	0	0	0	0	--	--		0	-			MKI67_uc001lkf.2_In_Frame_Del_p.STK2359del|MKI67_uc009yav.1_In_Frame_Del_p.STK2294del|MKI67_uc009yaw.1_In_Frame_Del_p.STK1869del	214	GBM-28-2514-TP	p.STK2719del	CTCTTTGTG	CCTGAGATGCCTCTTTGTGCTTGCTGTGG	NM_002417	NP_002408	129901939	P46013	KI67_HUMAN	0			13	8352_8360	-	-	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	In_Frame_Del	2719_2721			16 X 122 AA approximate repeats.|15.			
MKI67	0	broad.mit.edu	GRCh37	10	129901328	129901329	+	frameshift_variant	Frame_Shift_Del	DEL	GA	GA	-	rs61729202	byFrequency;by1000genomes	TCGA-32-1979-01	TCGA-32-1979-01	GA	GA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368654.3:c.8775_8776delTC	p.Gln2926AsnfsTer6	p.Q2926Nfs*6	ENST00000368654	NM_002417.4	2925	tcTCaa/tcaa	0			1			-	SQ/SX	uc001lke.2	protein_coding	YES	CCDS7659.1			8775-8776/9771									ovary(4)|central_nervous_system(2)|skin(1)	7	c.(8773-8778)TCTCAAfs			hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF3,Pfam_domain:PF08065	antigen identified by monoclonal antibody Ki-67				ENSP00000357643		13/15									COSM916087	13/15	.		ENST00000368654	Transcript			cell proliferation	nucleolus	ATP binding|protein C-terminus binding	ENSG00000148773	g.chr10:129901328_129901329delGA	7107			HIGH								--	--	1																																		MKI67_uc001lkf.2_Frame_Shift_Del_p.S2565fs|MKI67_uc009yav.1_Frame_Shift_Del_p.S2500fs|MKI67_uc009yaw.1_Frame_Shift_Del_p.S2075fs	1	1			p.S2925fs	NM_002417	NP_002408			1	KI67_HUMAN	MKI67	HGNC	P46013	KI67_HUMAN					13	8970_8971	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	UPI000013DB54	2925_2926			16 X 122 AA approximate repeats.|16.		deletion	MKI67,frameshift_variant,p.Gln2926AsnfsTer6,ENST00000368654,NM_002417.4;MKI67,frameshift_variant,p.Gln2566AsnfsTer6,ENST00000368653,NM_001145966.1;MKI67,non_coding_transcript_exon_variant,,ENST00000464771,;	uc001lke.2	c.8775_8776delTC	9151-9152/12678	5	5			c.8775_8776delTC						10	DEL	c.(8773-8778)TCTCAAfs	28	28			ovary(4)|central_nervous_system(2)|skin(1)	7	Broad	antigen identified by monoclonal antibody Ki-67			129901329		0.505	ENSG00000148773	9420	g.chr10:129901328_129901329delGA	cell proliferation	nucleolus	ATP binding|protein C-terminus binding																				0.38	1	1	0	1	0	0	0	0	0	--	--		0	-			MKI67_uc001lkf.2_Frame_Shift_Del_p.S2565fs|MKI67_uc009yav.1_Frame_Shift_Del_p.S2500fs|MKI67_uc009yaw.1_Frame_Shift_Del_p.S2075fs	230	GBM-32-1979-TP	p.S2925fs	GA	CCTGGTGTTTGAGAGAGCTCTT	NM_002417	NP_002408	129901328	P46013	KI67_HUMAN	0			13	8970_8971	-	-	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	Frame_Shift_Del	2925_2926			16 X 122 AA approximate repeats.|16.			
MKI67	0	broad.mit.edu	GRCh37	10	129902650	129902650	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01	TCGA-41-3393-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368654.3:c.7454C>T	p.Pro2485Leu	p.P2485L	ENST00000368654	NM_002417.4	2485	cCc/cTc	0			1			A	P/L	uc001lke.2	protein_coding	YES	CCDS7659.1			7454/9771									ovary(4)|central_nervous_system(2)|skin(1)	7	c.(7453-7455)CCC>CTC			hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF3,Pfam_domain:PF08065	antigen identified by monoclonal antibody Ki-67				ENSP00000357643		13/15									COSM3396987	13/15	.		ENST00000368654	Transcript			cell proliferation	nucleolus	ATP binding|protein C-terminus binding	ENSG00000148773	g.chr10:129902650G>A	7107			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=KI67_HUMAN&rb=2459&re=2570&var=P2485L	NA	getma.org/?cm=var&var=hg19,10,129902650,G,A&fts=all	P2485L	--	--	1																																		MKI67_uc001lkf.2_Missense_Mutation_p.P2125L|MKI67_uc009yav.1_Missense_Mutation_p.P2060L|MKI67_uc009yaw.1_Missense_Mutation_p.P1635L	1	1		benign(0.16)	p.P2485L	NM_002417	NP_002408		tolerated(0.1)	1	KI67_HUMAN	MKI67	HGNC	P46013	KI67_HUMAN					13	7649	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	UPI000013DB54	2485			16 X 122 AA approximate repeats.|13.		SNV	MKI67,missense_variant,p.Pro2485Leu,ENST00000368654,NM_002417.4;MKI67,missense_variant,p.Pro2125Leu,ENST00000368653,NM_001145966.1;MKI67,upstream_gene_variant,,ENST00000464771,;	uc001lke.2	c.7454C>T	7830/12678	2	2			c.7454C>T						10	SNP	c.(7453-7455)CCC>CTC	43	43			ovary(4)|central_nervous_system(2)|skin(1)	7	Broad	antigen identified by monoclonal antibody Ki-67			129902650		0.473	ENSG00000148773	9420	g.chr10:129902650G>A	cell proliferation	nucleolus	ATP binding|protein C-terminus binding							-65.987023	KEEP	4	7	-1	239	181	4	7	-1	22.145196	239	181	0.03022	1	0	0	0	0	1	0	0	0	--	--		0	A			MKI67_uc001lkf.2_Missense_Mutation_p.P2125L|MKI67_uc009yav.1_Missense_Mutation_p.P2060L|MKI67_uc009yaw.1_Missense_Mutation_p.P1635L	255	GBM-41-3393-TP	p.P2485L	G	TTTCACCAGGGGTATCTTGAG	NM_002417	NP_002408	129902650	P46013	KI67_HUMAN	0			13	7649	-	A	A		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	Missense_Mutation	2485			16 X 122 AA approximate repeats.|13.			
MKL1	0	broad.mit.edu	GRCh37	22	40814732	40814737	+	inframe_deletion	In_Frame_Del	DEL	GGGGGC	GGGGGC	-	rs144888766	by1000genomes	TCGA-14-4157-01	TCGA-14-4157-01	GGGGGC	GGGGGC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355630.3:c.1705_1710delGCCCCC	p.Ala569_Pro570del	p.A569_P570del	ENST00000355630	NM_020831.3	569	GCCCCC/-	0	-:0.0559		1			-	AP/-	uc003ayv.1	protein_coding	YES	CCDS14003.1			1705-1710/2796	T		RBM15		acute megakaryocytic leukemia				ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5	c.(1705-1710)GCCCCCdel			Low_complexity_(Seg):seg,hmmpanther:PTHR22793:SF6,hmmpanther:PTHR22793	megakaryoblastic leukemia 1 protein			-:0.0133	ENSP00000347847		15-Dec									rs766660599	15-Dec	.		ENST00000355630	Transcript	1		positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	ENSG00000196588	g.chr22:40814732_40814737delGGGGGC	14334			MODERATE								--	--	1																																		MKL1_uc003ayw.1_In_Frame_Del_p.AP569del|MKL1_uc010gye.1_In_Frame_Del_p.AP569del|MKL1_uc010gyf.1_In_Frame_Del_p.AP519del		1			p.AP569del	NM_020831	NP_065882				MKL1_HUMAN	MKL1	HGNC	Q969V6	MKL1_HUMAN			Q29R68_HUMAN		9	1912_1917	-			UPI000007311D	569_570			Pro-rich.		deletion	MKL1,inframe_deletion,p.Ala569_Pro570del,ENST00000396617,NM_001282662.1;MKL1,inframe_deletion,p.Ala569_Pro570del,ENST00000355630,NM_020831.3;MKL1,inframe_deletion,p.Ala519_Pro520del,ENST00000402042,NM_001282661.1;MKL1,inframe_deletion,p.Ala569_Pro570del,ENST00000407029,NM_001282660.1;RP5-1042K10.13,downstream_gene_variant,,ENST00000609279,;MKL1,upstream_gene_variant,,ENST00000477468,;	uc003ayv.1	c.1705_1710delGCCCCC	2296-2301/4496	5	5			c.1705_1710delGCCCCC	T		RBM15		acute megakaryocytic leukemia	22	DEL	c.(1705-1710)GCCCCCdel	1	1			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5	Broad	megakaryoblastic leukemia 1 protein			40814737		0.621	ENSG00000196588	9423	g.chr22:40814732_40814737delGGGGGC	positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			210			210														0.5	1	1	0	1	0	0	0	0	0	--	--		0	-			MKL1_uc003ayw.1_In_Frame_Del_p.AP569del|MKL1_uc010gye.1_In_Frame_Del_p.AP569del|MKL1_uc010gyf.1_In_Frame_Del_p.AP519del	152	GBM-14-4157-TP	p.AP569del	GGGGGC	GGGTGCCGAGgggggcgggggcgggg	NM_020831	NP_065882	40814732	Q969V6	MKL1_HUMAN	0			9	1912_1917	-	-	-			In_Frame_Del	569_570			Pro-rich.			
MKL2	0	broad.mit.edu	GRCh37	16	14234551	14234551	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-28-2502-01	TCGA-28-2502-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318282.5:c.88C>G	p.His30Asp	p.H30D	ENST00000318282		30	Cat/Gat	0			1			G	H/D	uc010uza.1	protein_coding	YES	CCDS32391.1			88/3150									ovary(3)|kidney(1)|pancreas(1)	5	c.(88-90)CAT>GAT			hmmpanther:PTHR22793,hmmpanther:PTHR22793:SF5	megakaryoblastic leukemia 2 protein				ENSP00000339086		16-Feb									COSM3402084	16-Feb	.		ENST00000318282	Transcript			cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	ENSG00000186260	g.chr16:14234551C>G	29819			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=B4DGT8_HUMAN&rb=1&re=50&var=H30D	NA	getma.org/?cm=var&var=hg19,16,14234551,C,G&fts=all	H30D	--	--	1																																		MKL2_uc002dcg.2_Missense_Mutation_p.H30D	1	1		probably_damaging(0.977)	p.H30D	NM_014048	NP_054767		deleterious(0.03)	1	MKL2_HUMAN	MKL2	HGNC	Q9ULH7	MKL2_HUMAN			I3L0U1_HUMAN		3	243	+			UPI0000225CCB	Error:Variant_position_missing_in_Q9ULH7_after_alignment					SNV	MKL2,missense_variant,p.His30Asp,ENST00000571589,NM_014048.3;MKL2,missense_variant,p.His30Asp,ENST00000318282,;MKL2,missense_variant,p.His30Asp,ENST00000574045,;MKL2,missense_variant,p.His30Asp,ENST00000574998,;MKL2,missense_variant,p.His24Asp,ENST00000573434,;MKL2,non_coding_transcript_exon_variant,,ENST00000575537,;MKL2,non_coding_transcript_exon_variant,,ENST00000575833,;MKL2,non_coding_transcript_exon_variant,,ENST00000575768,;MKL2,non_coding_transcript_exon_variant,,ENST00000572400,;	uc010uza.1	c.88C>G	218/8608	3	3			c.88C>G						16	SNP	c.(88-90)CAT>GAT	5	5			ovary(3)|kidney(1)|pancreas(1)	5	Broad	megakaryoblastic leukemia 2 protein			14234551		0.488	ENSG00000186260	9424	g.chr16:14234551C>G	cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity							-44.359407	KEEP	1	2	-1	105	95	1	2	-1	6.431783	105	95	0.015707	1	0	0	0	0	1	0	0	0	--	--		0	G			MKL2_uc002dcg.2_Missense_Mutation_p.H30D	210	GBM-28-2502-TP	p.H30D	C	AGCTGTGGCTCATGAATTCCA	NM_014048	NP_054767	14234551	Q9ULH7	MKL2_HUMAN	0			3	243	+	G	G			Missense_Mutation	Error:Variant_position_missing_in_Q9ULH7_after_alignment						
MKRN1	23608	broad.mit.edu	GRCh37	7	140156627	140156627	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0125-01	TCGA-06-0125-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255977.2:c.811T>A	p.Phe271Ile	p.F271I	ENST00000255977	NM_013446.3	271	Ttt/Att	0			1			T	F/I	uc003vvt.2	protein_coding	YES	CCDS5860.1			811/1449									ovary(1)	1	c.(811-813)TTT>ATT			Gene3D:3.30.40.10,hmmpanther:PTHR11224,hmmpanther:PTHR11224:SF37	makorin ring finger protein 1 isoform 1				ENSP00000255977		8-May									COSM2149342	8-May	.		ENST00000255977	Transcript					ligase activity|nucleic acid binding|protein binding|zinc ion binding	ENSG00000133606	g.chr7:140156627A>T	7112			MODERATE		2.795	medium	getma.org/?cm=msa&ty=f&p=MKRN1_HUMAN&rb=235&re=278&var=F271I	NA	getma.org/?cm=var&var=hg19,7,140156627,A,T&fts=all	F271I	--	--	1																																		MKRN1_uc003vvs.2_Missense_Mutation_p.F207I|MKRN1_uc011krd.1_Missense_Mutation_p.F5I|MKRN1_uc003vvv.3_Missense_Mutation_p.F271I|MKRN1_uc003vvu.3_Missense_Mutation_p.F207I	1	1		possibly_damaging(0.758)	p.F271I	NM_013446	NP_038474		deleterious(0)	1	MKRN1_HUMAN	MKRN1	HGNC	Q9UHC7	MKRN1_HUMAN			F5H0I9_HUMAN,C9JYX8_HUMAN,C9J031_HUMAN,C9IY57_HUMAN		5	1036	-	Melanoma(164;0.00956)		UPI0000001C5F	271					SNV	MKRN1,missense_variant,p.Phe271Ile,ENST00000255977,NM_013446.3;MKRN1,missense_variant,p.Phe207Ile,ENST00000474576,;MKRN1,missense_variant,p.Phe271Ile,ENST00000443720,NM_001145125.1;MKRN1,missense_variant,p.Phe5Ile,ENST00000437223,;MKRN1,missense_variant,p.His54Gln,ENST00000480552,;MKRN1,downstream_gene_variant,,ENST00000467513,;MKRN1,downstream_gene_variant,,ENST00000471104,;MKRN1,downstream_gene_variant,,ENST00000494939,;MKRN1,downstream_gene_variant,,ENST00000473444,;MKRN1,upstream_gene_variant,,ENST00000463142,;MKRN1,downstream_gene_variant,,ENST00000481705,;MKRN1,missense_variant,p.His118Gln,ENST00000495305,;MKRN1,3_prime_UTR_variant,,ENST00000496169,;MKRN1,non_coding_transcript_exon_variant,,ENST00000475010,;MKRN1,non_coding_transcript_exon_variant,,ENST00000468447,;MKRN1,downstream_gene_variant,,ENST00000498535,;MKRN1,downstream_gene_variant,,ENST00000475180,;	uc003vvt.2	c.811T>A	1036/3151	2	2			c.811T>A						7	SNP	c.(811-813)TTT>ATT	29	29			ovary(1)	1	Broad	makorin ring finger protein 1 isoform 1			140156627		0.532	ENSG00000133606	9428	g.chr7:140156627A>T			ligase activity|nucleic acid binding|protein binding|zinc ion binding							57.140679	KEEP	12	11	-1	36	33	12	11	-1	61.390418	36	33	0.259259	1	0	0	0	0	1	0	0	0	--	--		0	T			MKRN1_uc003vvs.2_Missense_Mutation_p.F207I|MKRN1_uc011krd.1_Missense_Mutation_p.F5I|MKRN1_uc003vvv.3_Missense_Mutation_p.F271I|MKRN1_uc003vvu.3_Missense_Mutation_p.F207I	12	GBM-06-0125-TP	p.F271I	A	TGCACGGCAAATGAGAGCTCC	NM_013446	NP_038474	140156627	Q9UHC7	MKRN1_HUMAN	0			5	1036	-	T	T	Melanoma(164;0.00956)		Missense_Mutation	271						
MKRN1	0	broad.mit.edu	GRCh37	7	140154505	140154505	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-41-3393-01	TCGA-41-3393-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255977.2:c.1261G>T	p.Glu421Ter	p.E421*	ENST00000255977	NM_013446.3	421	Gaa/Taa	0			1			A	E/*	uc003vvt.2	protein_coding	YES	CCDS5860.1			1261/1449									ovary(1)	1	c.(1261-1263)GAA>TAA			hmmpanther:PTHR11224,hmmpanther:PTHR11224:SF37	makorin ring finger protein 1 isoform 1				ENSP00000255977		8-Aug									COSM3411663	8-Aug	.		ENST00000255977	Transcript					ligase activity|nucleic acid binding|protein binding|zinc ion binding	ENSG00000133606	g.chr7:140154505C>A	7112			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,140154505,C,A&fts=all	E421*	--	--	1																																		MKRN1_uc003vvs.2_Nonsense_Mutation_p.E357*|MKRN1_uc011krd.1_Nonsense_Mutation_p.E155*	1	1			p.E421*	NM_013446	NP_038474			1	MKRN1_HUMAN	MKRN1	HGNC	Q9UHC7	MKRN1_HUMAN			F5H0I9_HUMAN,C9JYX8_HUMAN,C9J031_HUMAN,C9IY57_HUMAN		8	1486	-	Melanoma(164;0.00956)		UPI0000001C5F	421					SNV	MKRN1,stop_gained,p.Glu421Ter,ENST00000255977,NM_013446.3;MKRN1,stop_gained,p.Glu357Ter,ENST00000474576,;MKRN1,stop_gained,p.Glu155Ter,ENST00000437223,;MKRN1,synonymous_variant,p.=,ENST00000463142,;MKRN1,downstream_gene_variant,,ENST00000443720,NM_001145125.1;MKRN1,downstream_gene_variant,,ENST00000467513,;MKRN1,downstream_gene_variant,,ENST00000471104,;MKRN1,downstream_gene_variant,,ENST00000480552,;MKRN1,downstream_gene_variant,,ENST00000494939,;MKRN1,3_prime_UTR_variant,,ENST00000495305,;MKRN1,non_coding_transcript_exon_variant,,ENST00000475010,;MKRN1,non_coding_transcript_exon_variant,,ENST00000468447,;MKRN1,downstream_gene_variant,,ENST00000496169,;	uc003vvt.2	c.1261G>T	1486/3151	5	2			c.1261G>T						7	SNP	c.(1261-1263)GAA>TAA	18	18			ovary(1)	1	Broad	makorin ring finger protein 1 isoform 1			140154505		0.468	ENSG00000133606	9428	g.chr7:140154505C>A			ligase activity|nucleic acid binding|protein binding|zinc ion binding							28.058441	KEEP	12	9	0.428571429	55	80	12	9	0.428571429	43.92504	55	80	0.145038	1	0	0	0	0	0	1	0	0	--	--		0	A			MKRN1_uc003vvs.2_Nonsense_Mutation_p.E357*|MKRN1_uc011krd.1_Nonsense_Mutation_p.E155*	255	GBM-41-3393-TP	p.E421*	C	TCAATGAGTTCCCAGAAGTGG	NM_013446	NP_038474	140154505	Q9UHC7	MKRN1_HUMAN	0			8	1486	-	A	A	Melanoma(164;0.00956)		Nonsense_Mutation	421						
MKRN2	0	broad.mit.edu	GRCh37	3	12616291	12616291	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-5209-01	TCGA-28-5209-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000170447.7:c.643A>G	p.Ile215Val	p.I215V	ENST00000170447	NM_014160.4	215	Atc/Gtc	0			1			G	I/V	uc003bxd.2	protein_coding	YES	CCDS33702.1			643/1251										0	c.(643-645)ATC>GTC			hmmpanther:PTHR11224,hmmpanther:PTHR11224:SF17	makorin ring finger protein 2				ENSP00000170447		8-May									COSM3408199	8-May	.		ENST00000170447	Transcript				intracellular	ligase activity|nucleic acid binding|zinc ion binding	ENSG00000075975	g.chr3:12616291A>G	7113			MODERATE		-1.245	neutral	getma.org/?cm=msa&ty=f&p=MKRN2_HUMAN&rb=192&re=235&var=I215V	NA	getma.org/?cm=var&var=hg19,3,12616291,A,G&fts=all	I215V	--	--	1																																		MKRN2_uc003bxe.2_Missense_Mutation_p.I213V|MKRN2_uc011aus.1_Missense_Mutation_p.I172V	1	1		benign(0)	p.I215V	NM_014160	NP_054879		tolerated(1)	1	MKRN2_HUMAN	MKRN2	HGNC	Q9H000	MKRN2_HUMAN					5	699	+			UPI000007116E	215			Makorin-type Cys-His.		SNV	MKRN2,missense_variant,p.Ile215Val,ENST00000170447,NM_014160.4,NM_001271707.1;MKRN2,missense_variant,p.Ile213Val,ENST00000448482,;MKRN2,missense_variant,p.Ile172Val,ENST00000411987,;	uc003bxd.2	c.643A>G	780/2848	4	4			c.643A>G						3	SNP	c.(643-645)ATC>GTC	32	32				0	Broad	makorin ring finger protein 2			12616291		0.542	ENSG00000075975	9429	g.chr3:12616291A>G		intracellular	ligase activity|nucleic acid binding|zinc ion binding							338.143062	KEEP	63	50	-1	75	57	63	50	-1	338.550528	75	57	0.453271	1	0	0	0	0	1	0	0	0	--	--		0	G			MKRN2_uc003bxe.2_Missense_Mutation_p.I213V|MKRN2_uc011aus.1_Missense_Mutation_p.I172V	218	GBM-28-5209-TP	p.I215V	A	TGTGCTTCAGATCTGCATGTT	NM_014160	NP_054879	12616291	Q9H000	MKRN2_HUMAN	0			5	699	+	G	G			Missense_Mutation	215			Makorin-type Cys-His.			
MKRN3	7681	broad.mit.edu	GRCh37	15	23811322	23811322	+	synonymous_variant	Silent	SNP	C	C	T	rs36072495	byFrequency;by1000genomes	TCGA-06-0169-01	TCGA-06-0169-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314520.3:c.393C>T	p.Gly131=	p.G131=	ENST00000314520	NM_005664.3	131	ggC/ggT	0	T:0.0109	T:0.0257	1	T:0		T	G	uc001ywh.3	protein_coding	YES	CCDS10013.1			393/1524									lung(6)|large_intestine(2)|ovary(2)	10	c.(391-393)GGC>GGT			Low_complexity_(Seg):seg,hmmpanther:PTHR11224,hmmpanther:PTHR11224:SF38	makorin ring finger protein 3		T:0	T:0.0001	ENSP00000313881	T:0	1-Jan	0.0015	0.0159	0.000519	0.000116		7.59E-05	0.00111	0.000485	rs36072495,COSM2150257	1-Jan	common_variant		ENST00000314520	Transcript	1	T:0.0070		ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	ENSG00000179455	g.chr15:23811322C>T	7114			LOW								--	--	1																																		MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Silent_p.G131G	0,1	1			p.G131G	NM_005664	NP_005655	T:0.001		0,1	MKRN3_HUMAN	MKRN3	HGNC	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)			1	869	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	UPI000000DAA1	131					SNV	MKRN3,synonymous_variant,p.=,ENST00000314520,NM_005664.3;MKRN3,intron_variant,,ENST00000568252,;MKRN3,intron_variant,,ENST00000564592,;MIR4508,upstream_gene_variant,,ENST00000584178,;RP11-73C9.1,downstream_gene_variant,,ENST00000563044,;MKRN3,upstream_gene_variant,,ENST00000568945,;MKRN3,intron_variant,,ENST00000570112,;	uc001ywh.3	c.393C>T	869/2711	2	2			c.393C>T						15	SNP	c.(391-393)GGC>GGT	36	36			lung(6)|large_intestine(2)|ovary(2)	10	Broad	makorin ring finger protein 3			23811322		0.622	ENSG00000179455	9430	g.chr15:23811322C>T		ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding		p.G131G(JHUEM7-Tumor)|p.G131G(MM1S-Tumor)|p.G131G(NCIH2172-Tumor)	79		p.G131G(JHUEM7-Tumor)|p.G131G(MM1S-Tumor)|p.G131G(NCIH2172-Tumor)	79	64.000414	KEEP	13	17	-1	47	43	13	17	-1	70.621676	47	43	0.240741	1	0	0	0	0	0	0	1	0	--	--		0	T			MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Silent_p.G131G	34	GBM-06-0169-TP	p.G131G	C	CTGAGGGTGGCGTTTCGCCGC	NM_005664	NP_005655	23811322	Q13064	MKRN3_HUMAN	0		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	869	+	T	T		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	Silent	131						
MKRN3	0	broad.mit.edu	GRCh37	15	23811197	23811197	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314520.3:c.268C>T	p.Arg90Ter	p.R90*	ENST00000314520	NM_005664.3	90	Cga/Tga	0			1			T	R/*	uc001ywh.3	protein_coding	YES	CCDS10013.1			268/1524									lung(6)|large_intestine(2)|ovary(2)	10	c.(268-270)CGA>TGA			hmmpanther:PTHR11224,hmmpanther:PTHR11224:SF38	makorin ring finger protein 3				ENSP00000313881		1-Jan									COSM2154753	1-Jan	.		ENST00000314520	Transcript	1			ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	ENSG00000179455	g.chr15:23811197C>T	7114			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,15,23811197,C,T&fts=all	R90*	--	--	1																																		MKRN3_uc001ywi.2_Nonsense_Mutation_p.R90*|MKRN3_uc010ayi.1_Nonsense_Mutation_p.R90*	1	1			p.R90*	NM_005664	NP_005655			1	MKRN3_HUMAN	MKRN3	HGNC	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)			1	744	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	UPI000000DAA1	90					SNV	MKRN3,stop_gained,p.Arg90Ter,ENST00000314520,NM_005664.3;MKRN3,stop_gained,p.Arg90Ter,ENST00000568252,;MKRN3,stop_gained,p.Arg90Ter,ENST00000564592,;MIR4508,upstream_gene_variant,,ENST00000584178,;RP11-73C9.1,downstream_gene_variant,,ENST00000563044,;MKRN3,upstream_gene_variant,,ENST00000568945,;MKRN3,intron_variant,,ENST00000570112,;	uc001ywh.3	c.268C>T	744/2711	5	2			c.268C>T						15	SNP	c.(268-270)CGA>TGA	44	44			lung(6)|large_intestine(2)|ovary(2)	10	Broad	makorin ring finger protein 3			23811197		0.607	ENSG00000179455	9430	g.chr15:23811197C>T		ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			79			79	143.263953	KEEP	35	27	-1	49	42	35	27	-1	144.055445	49	42	0.409091	1	0	0	0	0	0	1	0	0	--	--		0	T			MKRN3_uc001ywi.2_Nonsense_Mutation_p.R90*|MKRN3_uc010ayi.1_Nonsense_Mutation_p.R90*	138	GBM-14-0813-TP	p.R90*	C	GTTGCCAAGCCGAAGCAGCGG	NM_005664	NP_005655	23811197	Q13064	MKRN3_HUMAN	0		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	744	+	T	T		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	Nonsense_Mutation	90						
MKRN3	0	broad.mit.edu	GRCh37	15	23812072	23812072	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2623-01	TCGA-19-2623-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314520.3:c.1143G>A	p.Glu381=	p.E381=	ENST00000314520	NM_005664.3	381	gaG/gaA	0			1			A	E	uc001ywh.3	protein_coding	YES	CCDS10013.1			1143/1524									lung(6)|large_intestine(2)|ovary(2)	10	c.(1141-1143)GAG>GAA			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11224,hmmpanther:PTHR11224:SF38	makorin ring finger protein 3				ENSP00000313881		1-Jan	8.24E-06					1.50E-05			rs758299500,COSM3401633	1-Jan	.		ENST00000314520	Transcript	1			ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	ENSG00000179455	g.chr15:23812072G>A	7114			LOW								--	--	1																																		MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Silent_p.E381E	0,1	1			p.E381E	NM_005664	NP_005655			0,1	MKRN3_HUMAN	MKRN3	HGNC	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)			1	1619	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	UPI000000DAA1	381					SNV	MKRN3,synonymous_variant,p.=,ENST00000314520,NM_005664.3;MKRN3,synonymous_variant,p.=,ENST00000564592,;MKRN3,intron_variant,,ENST00000568252,;MIR4508,upstream_gene_variant,,ENST00000584178,;RP11-73C9.1,downstream_gene_variant,,ENST00000563044,;MKRN3,non_coding_transcript_exon_variant,,ENST00000568945,;MKRN3,3_prime_UTR_variant,,ENST00000570112,;	uc001ywh.3	c.1143G>A	1619/2711	1	1			c.1143G>A						15	SNP	c.(1141-1143)GAG>GAA	55	55			lung(6)|large_intestine(2)|ovary(2)	10	Broad	makorin ring finger protein 3			23812072		0.507	ENSG00000179455	9430	g.chr15:23812072G>A		ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			79			79	-28.177228	KEEP	3	2	-1	69	104	3	2	-1	10.900938	69	104	0.030864	1	0	0	0	0	0	0	1	0	--	--		0	A			MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Silent_p.E381E	163	GBM-19-2623-TP	p.E381E	G	TGGAGGAGGAGGAAGAGAAGC	NM_005664	NP_005655	23812072	Q13064	MKRN3_HUMAN	0		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	1619	+	A	A		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	Silent	381						
MKRN3	0	broad.mit.edu	GRCh37	15	23810982	23810982	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4931-01	TCGA-76-4931-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314520.3:c.53C>T	p.Ala18Val	p.A18V	ENST00000314520	NM_005664.3	18	gCa/gTa	0			1			T	A/V	uc001ywh.3	protein_coding	YES	CCDS10013.1			53/1524									lung(6)|large_intestine(2)|ovary(2)	10	c.(52-54)GCA>GTA			Low_complexity_(Seg):seg,hmmpanther:PTHR11224,hmmpanther:PTHR11224:SF38	makorin ring finger protein 3				ENSP00000313881		1-Jan									COSM3401629	1-Jan	.		ENST00000314520	Transcript	1			ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	ENSG00000179455	g.chr15:23810982C>T	7114			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=MKRN3_HUMAN&rb=1&re=32&var=A18V	NA	getma.org/?cm=var&var=hg19,15,23810982,C,T&fts=all	A18V	--	--	1																																		MKRN3_uc001ywi.2_Missense_Mutation_p.A18V|MKRN3_uc010ayi.1_Missense_Mutation_p.A18V	1	1		unknown(0)	p.A18V	NM_005664	NP_005655		tolerated(0.17)	1	MKRN3_HUMAN	MKRN3	HGNC	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)			1	529	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	UPI000000DAA1	18					SNV	MKRN3,missense_variant,p.Ala18Val,ENST00000314520,NM_005664.3;MKRN3,missense_variant,p.Ala18Val,ENST00000568252,;MKRN3,missense_variant,p.Ala18Val,ENST00000564592,;MIR4508,upstream_gene_variant,,ENST00000584178,;RP11-73C9.1,downstream_gene_variant,,ENST00000563044,;MKRN3,upstream_gene_variant,,ENST00000568945,;MKRN3,splice_donor_variant,,ENST00000570112,;	uc001ywh.3	c.53C>T	529/2711	2	2			c.53C>T						15	SNP	c.(52-54)GCA>GTA	32	32			lung(6)|large_intestine(2)|ovary(2)	10	Broad	makorin ring finger protein 3			23810982		0.637	ENSG00000179455	9430	g.chr15:23810982C>T		ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			79			79	25.715652	KEEP	6	9	-1	12	21	6	9	-1	26.927622	12	21	0.305556	1	0	0	0	0	1	0	0	0	--	--		0	T			MKRN3_uc001ywi.2_Missense_Mutation_p.A18V|MKRN3_uc010ayi.1_Missense_Mutation_p.A18V	270	GBM-76-4931-TP	p.A18V	C	GGGGCCCAGGCAGGTGCTGAG	NM_005664	NP_005655	23810982	Q13064	MKRN3_HUMAN	0		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	529	+	T	T		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	Missense_Mutation	18						
MKS1	54903	broad.mit.edu	GRCh37	17	56288050	56288050	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0646-01	TCGA-06-0646-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393119.2:c.994G>A	p.Val332Ile	p.V332I	ENST00000393119	NM_017777.3	332	Gtc/Atc	0			1			T	V/I	uc002ivr.1	protein_coding	YES	CCDS11603.2			994/1680						uncertain_significance			ovary(1)	1	c.(994-996)GTC>ATC			Pfam_domain:PF07162,PROSITE_profiles:PS51381,hmmpanther:PTHR12968,hmmpanther:PTHR12968:SF3	Meckel syndrome type 1 protein isoform 1				ENSP00000376827		18-Nov	8.28E-05					4.50E-05	0.00111	0.000364	rs775391594,COSM2151339,COSM2151340	18-Nov	.		ENST00000393119	Transcript	1		cilium assembly	centrosome|cilium|microtubule basal body	protein binding	ENSG00000011143	g.chr17:56288050C>T	7121			MODERATE		0.855	low	getma.org/?cm=msa&ty=f&p=MKS1_HUMAN&rb=312&re=494&var=V332I	NA	getma.org/?cm=var&var=hg19,17,56288050,C,T&fts=all	V332I	--	--	1																																		MKS1_uc010wnq.1_Missense_Mutation_p.V129I|MKS1_uc002ivs.1_Missense_Mutation_p.V332I	1,1,1	1		benign(0.05)	p.V332I	NM_017777	NP_060247		tolerated(0.67)	0,1,1	MKS1_HUMAN	MKS1	HGNC	Q9NXB0	MKS1_HUMAN			F5H5Y8_HUMAN		11	1069	-			UPI00002010BB	332			B9.		SNV	MKS1,missense_variant,p.Val332Ile,ENST00000393119,NM_017777.3;MKS1,missense_variant,p.Val332Ile,ENST00000313863,;MKS1,missense_variant,p.Val322Ile,ENST00000537529,NM_001165927.1;MKS1,missense_variant,p.Val129Ile,ENST00000546108,;MKS1,missense_variant,p.Val332Ile,ENST00000337050,;MKS1,missense_variant,p.Val158Ile,ENST00000577824,;MKS1,missense_variant,p.Val73Ile,ENST00000585134,;MKS1,missense_variant,p.Val17Ile,ENST00000577315,;MKS1,3_prime_UTR_variant,,ENST00000393120,;MKS1,3_prime_UTR_variant,,ENST00000581761,;MKS1,non_coding_transcript_exon_variant,,ENST00000579358,;MKS1,downstream_gene_variant,,ENST00000581180,;MKS1,downstream_gene_variant,,ENST00000580127,;MKS1,upstream_gene_variant,,ENST00000583577,;MKS1,downstream_gene_variant,,ENST00000578789,;	uc002ivr.1	c.994G>A	1069/2392	2	2			c.994G>A						17	SNP	c.(994-996)GTC>ATC	30	30			ovary(1)	1	Broad	Meckel syndrome type 1 protein isoform 1			56288050		0.398	ENSG00000011143	9431	g.chr17:56288050C>T	cilium assembly	centrosome|cilium|microtubule basal body	protein binding							284.069514	KEEP	47	51	-1	19	24	47	51	-1	288.212293	19	24	0.697479	1	0	0	0	0	1	0	0	0	--	--		0	T			MKS1_uc010wnq.1_Missense_Mutation_p.V129I|MKS1_uc002ivs.1_Missense_Mutation_p.V332I	60	GBM-06-0646-TP	p.V332I	C	AAGAAGTGGACGTAGAGATTG	NM_017777	NP_060247	56288050	Q9NXB0	MKS1_HUMAN	0			11	1069	-	T	T			Missense_Mutation	332			B9.			
MKS1	0	broad.mit.edu	GRCh37	17	56294074	56294074	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01	TCGA-28-2513-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393119.2:c.214G>A	p.Glu72Lys	p.E72K	ENST00000393119	NM_017777.3	72	Gaa/Aaa	0			1			T	E/K	uc002ivr.1	protein_coding	YES	CCDS11603.2			214/1680									ovary(1)	1	c.(214-216)GAA>AAA			hmmpanther:PTHR12968,hmmpanther:PTHR12968:SF3,Low_complexity_(Seg):seg	Meckel syndrome type 1 protein isoform 1				ENSP00000376827		18-Mar	1.65E-05					1.50E-05		6.11E-05	rs753620277,COSM3403046,COSM3403047	18-Mar	.		ENST00000393119	Transcript	1		cilium assembly	centrosome|cilium|microtubule basal body	protein binding	ENSG00000011143	g.chr17:56294074C>T	7121			MODERATE		1.3	low	getma.org/?cm=msa&ty=f&p=MKS1_HUMAN&rb=1&re=200&var=E72K	NA	getma.org/?cm=var&var=hg19,17,56294074,C,T&fts=all	E72K	--	--	1																																		MKS1_uc010wnq.1_5'UTR|MKS1_uc002ivs.1_Missense_Mutation_p.E72K	0,1,1	1		benign(0.122)	p.E72K	NM_017777	NP_060247		tolerated(0.14)	0,1,1	MKS1_HUMAN	MKS1	HGNC	Q9NXB0	MKS1_HUMAN			F5H5Y8_HUMAN		3	289	-			UPI00002010BB	72					SNV	MKS1,missense_variant,p.Glu72Lys,ENST00000393119,NM_017777.3;MKS1,missense_variant,p.Glu72Lys,ENST00000313863,;MKS1,missense_variant,p.Glu62Lys,ENST00000537529,NM_001165927.1;MKS1,missense_variant,p.Glu72Lys,ENST00000337050,;MKS1,5_prime_UTR_variant,,ENST00000546108,;LPO,upstream_gene_variant,,ENST00000582328,;MKS1,upstream_gene_variant,,ENST00000577824,;MKS1,upstream_gene_variant,,ENST00000585134,;MKS1,missense_variant,p.Glu72Lys,ENST00000393120,;MKS1,missense_variant,p.Glu72Lys,ENST00000580127,;MKS1,missense_variant,p.Arg35Gln,ENST00000578789,;MKS1,non_coding_transcript_exon_variant,,ENST00000581180,;MKS1,intron_variant,,ENST00000581761,;	uc002ivr.1	c.214G>A	289/2392	1	1			c.214G>A						17	SNP	c.(214-216)GAA>AAA	12	12			ovary(1)	1	Broad	Meckel syndrome type 1 protein isoform 1			56294074		0.483	ENSG00000011143	9431	g.chr17:56294074C>T	cilium assembly	centrosome|cilium|microtubule basal body	protein binding							15.399879	KEEP	9	8	-1	55	60	9	8	-1	31.400109	55	60	0.117117	1	0	0	0	0	1	0	0	0	--	--		0	T			MKS1_uc010wnq.1_5'UTR|MKS1_uc002ivs.1_Missense_Mutation_p.E72K	213	GBM-28-2513-TP	p.E72K	C	TCCTCCTCTTCGTCTTCCTCT	NM_017777	NP_060247	56294074	Q9NXB0	MKS1_HUMAN	0			3	289	-	T	T			Missense_Mutation	72						
MKX	283078	broad.mit.edu	GRCh37	10	27964299	27964299	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5415-01	TCGA-06-5415-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375790.5:c.918G>A	p.Lys306=	p.K306=	ENST00000375790		306	aaG/aaA	0			1			T	K	uc001ity.3	protein_coding	YES	CCDS7156.1			918/1059									ovary(1)	1	c.(916-918)AAG>AAA			hmmpanther:PTHR11211:SF3,hmmpanther:PTHR11211	mohawk homeobox				ENSP00000364946		7-Jul									COSM3397080	7-Jul	.		ENST00000375790	Transcript			muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000150051	g.chr10:27964299C>T	23729			LOW								--	--	1																																		MKX_uc001itx.3_Silent_p.K306K	1	1			p.K306K	NM_173576	NP_775847			1	MKX_HUMAN	MKX	HGNC	Q8IYA7	MKX_HUMAN			H0YMU2_HUMAN		7	1143	-			UPI0000161911	306					SNV	MKX,synonymous_variant,p.=,ENST00000375790,;MKX,synonymous_variant,p.=,ENST00000419761,NM_001242702.1,NM_173576.2;	uc001ity.3	c.918G>A	1351/3846	1	1			c.918G>A						10	SNP	c.(916-918)AAG>AAA	7	7			ovary(1)	1	Broad	mohawk homeobox			27964299		0.458	ENSG00000150051	9432	g.chr10:27964299C>T	muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							-31.186465	KEEP	1	4	-1	73	115	1	4	-1	11.055092	73	115	0.028902	1	0	0	0	0	0	0	1	0	--	--		0	T			MKX_uc001itx.3_Silent_p.K306K	98	GBM-06-5415-TP	p.K306K	C	CGTTGATCTCCTTCCAATACG	NM_173576	NP_775847	27964299	Q8IYA7	MKX_HUMAN	0			7	1143	-	T	T			Silent	306						
MLH3	27030	broad.mit.edu	GRCh37	14	75514227	75514227	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-2570-01	TCGA-06-2570-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355774.2:c.2132C>G	p.Ser711Cys	p.S711C	ENST00000355774	NM_001040108.1	711	tCt/tGt	0			1			C	S/C	uc001xrd.1	protein_coding	YES	CCDS32123.1			2132/4362									ovary(1)|skin(1)	2	c.(2131-2133)TCT>TGT		MMR	hmmpanther:PTHR10073,hmmpanther:PTHR10073:SF7	mutL homolog 3 isoform 1				ENSP00000348020		13-Feb									COSM2153129,COSM2153128	13-Feb	.		ENST00000355774	Transcript	1		mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	ENSG00000119684	g.chr14:75514227G>C	7128			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=MLH3_HUMAN&rb=361&re=1116&var=S711C	NA	getma.org/?cm=var&var=hg19,14,75514227,G,C&fts=all	S711C	--	--	1																																		MLH3_uc001xre.1_Missense_Mutation_p.S711C|MLH3_uc010tuy.1_RNA	1,1	1		possibly_damaging(0.497)	p.S711C	NM_001040108	NP_001035197		deleterious(0.02)	1,1	MLH3_HUMAN	MLH3	HGNC	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	H0YJA3_HUMAN,G3V3E0_HUMAN,G3V384_HUMAN		2	2348	-			UPI00001AEEE0	711					SNV	MLH3,missense_variant,p.Ser711Cys,ENST00000355774,NM_001040108.1;MLH3,missense_variant,p.Ser711Cys,ENST00000238662,NM_014381.2;MLH3,missense_variant,p.Ser711Cys,ENST00000556740,;MLH3,missense_variant,p.Ser711Cys,ENST00000556257,;MLH3,5_prime_UTR_variant,,ENST00000380968,;MLH3,upstream_gene_variant,,ENST00000553713,;MLH3,upstream_gene_variant,,ENST00000544985,;MLH3,downstream_gene_variant,,ENST00000553263,;MLH3,downstream_gene_variant,,ENST00000557648,;MLH3,upstream_gene_variant,,ENST00000555671,;MLH3,upstream_gene_variant,,ENST00000555499,;MLH3,upstream_gene_variant,,ENST00000555144,;MLH3,upstream_gene_variant,,ENST00000556453,;	uc001xrd.1	c.2132C>G	2348/7896	4	4			c.2132C>G						14	SNP	c.(2131-2133)TCT>TGT	46	46			ovary(1)|skin(1)	2	Broad	mutL homolog 3 isoform 1	MMR		75514227		0.363	ENSG00000119684	9440	g.chr14:75514227G>C	mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding							498.182722	KEEP	58	93	-1	76	98	58	93	-1	498.572338	76	98	0.461017	1	0	0	0	0	1	0	0	0	--	--		0	C			MLH3_uc001xre.1_Missense_Mutation_p.S711C|MLH3_uc010tuy.1_RNA	91	GBM-06-2570-TP	p.S711C	G	GGATGTATCAGATAATATGCA	NM_001040108	NP_001035197	75514227	Q9UHC1	MLH3_HUMAN	0		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	2348	-	C	C			Missense_Mutation	711						
MLIP	0	broad.mit.edu	GRCh37	6	53986287	53986287	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-14-0813-01	TCGA-14-0813-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274897.5:c.106T>A	p.Phe36Ile	p.F36I	ENST00000274897	NM_138569.2	36	Ttt/Att	0			1			A	F/I	uc003pcg.3	protein_coding	YES	CCDS4954.1			106/1377										0	c.(106-108)TTT>ATT			hmmpanther:PTHR31514,hmmpanther:PTHR31514:SF1	hypothetical protein LOC90523				ENSP00000274897		13-Feb									COSM3411202	13-Feb	.		ENST00000274897	Transcript				nuclear envelope|PML body	protein binding	ENSG00000146147	g.chr6:53986287T>A	21355			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=MLIP_HUMAN&rb=1&re=200&var=F36I	NA	getma.org/?cm=var&var=hg19,6,53986287,T,A&fts=all	F36I	--	--	1																																		C6orf142_uc003pcf.2_Missense_Mutation_p.F36I|C6orf142_uc003pch.3_Intron|C6orf142_uc011dwz.1_Intron|C6orf142_uc011dxa.1_Missense_Mutation_p.F47I	1	1		probably_damaging(0.985)	p.F36I	NM_138569	NP_612636		deleterious(0)	1	MLIP_HUMAN	MLIP	HGNC	Q5VWP3	MLIP_HUMAN					2	219	+	Lung NSC(77;0.0317)		UPI000013DA33	36			Interaction with LMNA.		SNV	MLIP,missense_variant,p.Phe36Ile,ENST00000514921,NM_001281746.1;MLIP,missense_variant,p.Phe47Ile,ENST00000502396,NM_001281747.1;MLIP,missense_variant,p.Phe36Ile,ENST00000274897,NM_138569.2;MLIP,missense_variant,p.Phe30Ile,ENST00000358276,;MLIP,missense_variant,p.Phe37Ile,ENST00000514433,;MLIP,5_prime_UTR_variant,,ENST00000447836,;MLIP,5_prime_UTR_variant,,ENST00000511678,;MLIP,5_prime_UTR_variant,,ENST00000460844,;MLIP,intron_variant,,ENST00000503951,;MLIP,intron_variant,,ENST00000370877,;MLIP,intron_variant,,ENST00000370876,;MLIP,intron_variant,,ENST00000509997,;MLIP,intron_variant,,ENST00000505762,;MLIP,non_coding_transcript_exon_variant,,ENST00000511744,;	uc003pcg.3	c.106T>A	219/1815	1	1			c.106T>A						6	SNP	c.(106-108)TTT>ATT	51	51				0	Broad	hypothetical protein LOC90523			53986287		0.413	ENSG00000146147	2285	g.chr6:53986287T>A		nuclear envelope|PML body	protein binding							-20.513944	KEEP	4	3	-1	99	72	4	3	-1	14.603425	99	72	0.044304	1	0	0	0	0	1	0	0	0	--	--		0	A			C6orf142_uc003pcf.2_Missense_Mutation_p.F36I|C6orf142_uc003pch.3_Intron|C6orf142_uc011dwz.1_Intron|C6orf142_uc011dxa.1_Missense_Mutation_p.F47I	138	GBM-14-0813-TP	p.F36I	T	GATCTTCACATTTGTCCCCAC	NM_138569	NP_612636	53986287	Q5VWP3	MLIP_HUMAN	0			2	219	+	A	A	Lung NSC(77;0.0317)		Missense_Mutation	36			Interaction with LMNA.			
MLK4	0	broad.mit.edu	GRCh37	1	233511808	233511808	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-14-1395-01	TCGA-14-1395-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366624.3:c.1822G>C	p.Glu608Gln	p.E608Q	ENST00000366624	NM_032435.2	608	Gaa/Caa	0			1			C	E/Q	uc001hvt.3	protein_coding	YES	CCDS1598.1			1822/3111									lung(5)|central_nervous_system(2)|skin(1)	8	c.(1822-1824)GAA>CAA			PIRSF_domain:PIRSF000556	mixed lineage kinase 4				ENSP00000355583		10-Jul									COSM3400469	10-Jul	.		ENST00000366624	Transcript			activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity	ENSG00000143674	g.chr1:233511808G>C				MODERATE		2.14	medium	getma.org/?cm=msa&ty=f&p=M3KL4_HUMAN&rb=419&re=1034&var=E608Q	NA	getma.org/?cm=var&var=hg19,1,233511808,G,C&fts=all	E608Q	--	--	1																																		KIAA1804_uc001hvu.3_Missense_Mutation_p.E54Q	1	1		benign(0.285)	p.E608Q	NM_032435	NP_115811		tolerated(0.06)	1	M3KL4_HUMAN	MLK4	Uniprot_gn	Q5TCX8	M3KL4_HUMAN					7	2083	+		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)	UPI000013D922	608					SNV	MLK4,missense_variant,p.Glu608Gln,ENST00000366624,NM_032435.2;MLK4,missense_variant,p.Glu54Gln,ENST00000366622,;MLK4,downstream_gene_variant,,ENST00000366623,;	uc001hvt.3	c.1822G>C	2083/5809	3	3			c.1822G>C						1	SNP	c.(1822-1824)GAA>CAA	50	50			lung(5)|central_nervous_system(2)|skin(1)	8	Broad	mixed lineage kinase 4			233511808		0.348	ENSG00000143674	8120	g.chr1:233511808G>C	activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			196			196	50.345404	KEEP	13	4	-1	12	9	13	4	-1	50.510562	12	9	0.424242	1	0	0	0	0	1	0	0	0	--	--		0	C			KIAA1804_uc001hvu.3_Missense_Mutation_p.E54Q	144	GBM-14-1395-TP	p.E608Q	G	AGATTGCAAAGAAAGGTACGT	NM_032435	NP_115811	233511808	Q5TCX8	M3KL4_HUMAN	0			7	2083	+	C	C		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)	Missense_Mutation	608						
MLK4	0	broad.mit.edu	GRCh37	1	233515030	233515030	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-27-1835-01	TCGA-27-1835-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366624.3:c.2278C>T	p.Arg760Ter	p.R760*	ENST00000366624	NM_032435.2	760	Cga/Tga	0			1			T	R/*	uc001hvt.3	protein_coding	YES	CCDS1598.1			2278/3111									lung(5)|central_nervous_system(2)|skin(1)	8	c.(2278-2280)CGA>TGA			PIRSF_domain:PIRSF000556,Low_complexity_(Seg):seg	mixed lineage kinase 4				ENSP00000355583		10-Sep	5.77E-05	9.63E-05		0.000463		3.00E-05			rs373332852,COSM2157259	10-Sep	common_variant		ENST00000366624	Transcript			activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity	ENSG00000143674	g.chr1:233515030C>T				HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,233515030,C,T&fts=all	R760*	--	--	1																																		KIAA1804_uc001hvu.3_Nonsense_Mutation_p.R206*	0,1	1			p.R760*	NM_032435	NP_115811			0,1	M3KL4_HUMAN	MLK4	Uniprot_gn	Q5TCX8	M3KL4_HUMAN					9	2539	+		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)	UPI000013D922	760					SNV	MLK4,stop_gained,p.Arg760Ter,ENST00000366624,NM_032435.2;MLK4,stop_gained,p.Arg206Ter,ENST00000366622,;	uc001hvt.3	c.2278C>T	2539/5809	5	1			c.2278C>T						1	SNP	c.(2278-2280)CGA>TGA	4	4			lung(5)|central_nervous_system(2)|skin(1)	8	Broad	mixed lineage kinase 4			233515030		0.602	ENSG00000143674	8120	g.chr1:233515030C>T	activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			196			196	110.214664	KEEP	14	28	-1	36	31	14	28	-1	110.97481	36	31	0.405941	1	0	0	0	0	0	1	0	0	--	--		0	T			KIAA1804_uc001hvu.3_Nonsense_Mutation_p.R206*	194	GBM-27-1835-TP	p.R760*	C	GAAGAAGAAACGAGAGGGAAT	NM_032435	NP_115811	233515030	Q5TCX8	M3KL4_HUMAN	0			9	2539	+	T	T		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)	Nonsense_Mutation	760						
MLK4	0	broad.mit.edu	GRCh37	1	233518426	233518426	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-5218-01	TCGA-28-5218-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366624.3:c.3080T>C	p.Ile1027Thr	p.I1027T	ENST00000366624	NM_032435.2	1027	aTa/aCa	0			1			C	I/T	uc001hvt.3	protein_coding	YES	CCDS1598.1			3080/3111									lung(5)|central_nervous_system(2)|skin(1)	8	c.(3079-3081)ATA>ACA			PIRSF_domain:PIRSF000556	mixed lineage kinase 4				ENSP00000355583		10-Oct	3.29E-05					6.08E-05			rs775744374,COSM3400470	10-Oct	.		ENST00000366624	Transcript			activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity	ENSG00000143674	g.chr1:233518426T>C				MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=M3KL4_HUMAN&rb=419&re=1034&var=I1027T	NA	getma.org/?cm=var&var=hg19,1,233518426,T,C&fts=all	I1027T	--	--	1																																		KIAA1804_uc001hvu.3_Missense_Mutation_p.I473T	0,1	1		benign(0.169)	p.I1027T	NM_032435	NP_115811		deleterious(0.05)	0,1	M3KL4_HUMAN	MLK4	Uniprot_gn	Q5TCX8	M3KL4_HUMAN					10	3341	+		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)	UPI000013D922	1027					SNV	MLK4,missense_variant,p.Ile1027Thr,ENST00000366624,NM_032435.2;MLK4,missense_variant,p.Ile473Thr,ENST00000366622,;	uc001hvt.3	c.3080T>C	3341/5809	3	3			c.3080T>C						1	SNP	c.(3079-3081)ATA>ACA	16	16			lung(5)|central_nervous_system(2)|skin(1)	8	Broad	mixed lineage kinase 4			233518426		0.428	ENSG00000143674	8120	g.chr1:233518426T>C	activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			196			196	77.857881	KEEP	12	22	-1	57	65	12	22	-1	89.352069	57	65	0.198529	1	0	0	0	0	1	0	0	0	--	--		0	C			KIAA1804_uc001hvu.3_Missense_Mutation_p.I473T	224	GBM-28-5218-TP	p.I1027T	T	CGGCCATCTATATATGAACTG	NM_032435	NP_115811	233518426	Q5TCX8	M3KL4_HUMAN	0			10	3341	+	C	C		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)	Missense_Mutation	1027						
MLLT3	4300	broad.mit.edu	GRCh37	9	20448206	20448206	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-06-2561-01	TCGA-06-2561-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380338.4:c.335del	p.Pro112HisfsTer3	p.P112Hfs*3	ENST00000380338	NM_004529.2	112	cCa/ca	0			1			-	P/X	uc003zoe.2	protein_coding	YES	CCDS6494.1			335/1707	T		MLL		ALL				lung(2)|ovary(1)	3	c.(334-336)CCAfs			PROSITE_profiles:PS51037,hmmpanther:PTHR23195,hmmpanther:PTHR23195:SF25	myeloid/lymphoid or mixed-lineage leukemia				ENSP00000369695		11-Apr									COSM2152742	11-Apr	.		ENST00000380338	Transcript	1		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	ENSG00000171843	g.chr9:20448206delG	7136			HIGH								--	--	1																																		MLLT3_uc011lne.1_Frame_Shift_Del_p.P80fs|MLLT3_uc011lnf.1_Frame_Shift_Del_p.P109fs|MLLT3_uc003zof.2_Intron|MLLT3_uc011lng.1_Frame_Shift_Del_p.P80fs	1	1			p.P112fs	NM_004529	NP_004520			1	AF9_HUMAN	MLLT3	HGNC	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	Q6LEQ8_HUMAN,B1APT5_HUMAN		4	594	-			UPI00002111CB	112			YEATS.		deletion	MLLT3,frameshift_variant,p.Pro112HisfsTer3,ENST00000380338,NM_004529.2;MLLT3,frameshift_variant,p.Pro109HisfsTer3,ENST00000429426,NM_001286691.1;MLLT3,5_prime_UTR_variant,,ENST00000355930,;MLLT3,intron_variant,,ENST00000475957,;	uc003zoe.2	c.335delC	622/6772	5	5			c.335delC	T		MLL		ALL	9	DEL	c.(334-336)CCAfs	26	26			lung(2)|ovary(1)	3	Broad	myeloid/lymphoid or mixed-lineage leukemia			20448206		0.448	ENSG00000171843	9450	g.chr9:20448206delG	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			216			216														0.5	1	1	0	1	0	0	0	0	0	--	--		0	-			MLLT3_uc011lne.1_Frame_Shift_Del_p.P80fs|MLLT3_uc011lnf.1_Frame_Shift_Del_p.P109fs|MLLT3_uc003zof.2_Intron|MLLT3_uc011lng.1_Frame_Shift_Del_p.P80fs	84	GBM-06-2561-TP	p.P112fs	G	ATTCACTGGTGGATGGCCTTC	NM_004529	NP_004520	20448206	P42568	AF9_HUMAN	0		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	4	594	-	-	-			Frame_Shift_Del	112			YEATS.			
MLLT4	0	broad.mit.edu	GRCh37	6	168363130	168363130	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-06-0185-01	TCGA-06-0185-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392108.3:c.4824G>C	p.Arg1608=	p.R1608=	ENST00000392108	NM_001040000.2	1608	cgG/cgC	0			1			C	R	uc003qwd.2	protein_coding					4830/5475	T		MLL		AL				ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5	c.(4858-4860)CGG>CGC			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10398	myeloid/lymphoid or mixed-lineage leukemia				ENSP00000404595		30/33									COSM2150531,COSM2150530	30/33	.		ENST00000447894	Transcript			adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	ENSG00000130396	g.chr6:168363130G>C	7137			LOW								--	--	1																																		MLLT4_uc003qwc.1_Silent_p.R1608R|MLLT4_uc003qwg.1_Silent_p.R919R	1,1				p.R1620R	NM_001040001	NP_001035090			1,1	AFAD_HUMAN	MLLT4	HGNC	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)			31	5002	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	UPI000047089C	1610			Potential.		SNV	MLLT4,synonymous_variant,p.=,ENST00000366806,;MLLT4,synonymous_variant,p.=,ENST00000400822,;MLLT4,synonymous_variant,p.=,ENST00000392112,NM_001207008.1;MLLT4,synonymous_variant,p.=,ENST00000392108,NM_001040000.2;MLLT4,synonymous_variant,p.=,ENST00000351017,;MLLT4,synonymous_variant,p.=,ENST00000447894,;MLLT4,synonymous_variant,p.=,ENST00000344191,;MLLT4,synonymous_variant,p.=,ENST00000507704,;MLLT4,synonymous_variant,p.=,ENST00000476946,;MLLT4,upstream_gene_variant,,ENST00000515794,;MLLT4,upstream_gene_variant,,ENST00000485634,;MLLT4,non_coding_transcript_exon_variant,,ENST00000511637,;	uc003qwd.2	c.4860G>C	4830/5475	3	3			c.4860G>C	T		MLL		AL	6	SNP	c.(4858-4860)CGG>CGC	8	8			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5	Broad	myeloid/lymphoid or mixed-lineage leukemia			168363130		0.537	ENSG00000130396	9451	g.chr6:168363130G>C	adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			1250			1250	71.768456	KEEP	16	9	-1	22	26	16	9	-1	71.931884	22	26	0.4375	1	0	0	0	0	0	0	1	0	--	--		0	C			MLLT4_uc003qwc.1_Silent_p.R1608R|MLLT4_uc003qwg.1_Silent_p.R919R	40	GBM-06-0185-TP	p.R1620R	G	ACGAGGAGCGGAGGCGGCAGC	NM_001040001	NP_001035090	168363130	P55196	AFAD_HUMAN	0		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	31	5002	+	C	C		Breast(66;1.07e-05)|Ovarian(120;0.024)	Silent	1610			Potential.			
MLLT4	0	broad.mit.edu	GRCh37	6	168363191	168363191	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0185-01	TCGA-06-0185-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392108.3:c.4885G>C	p.Glu1629Gln	p.E1629Q	ENST00000392108	NM_001040000.2	1629	Gag/Cag	0			1			C	E/Q	uc003qwd.2	protein_coding					4891/5475	T		MLL		AL				ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5	c.(4921-4923)GAG>CAG			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10398	myeloid/lymphoid or mixed-lineage leukemia				ENSP00000404595		30/33									COSM2150497,COSM2150496	30/33	.		ENST00000447894	Transcript			adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	ENSG00000130396	g.chr6:168363191G>C	7137			MODERATE		2.14	medium	getma.org/?cm=msa&ty=f&p=AFAD_HUMAN&rb=1114&re=1822&var=E1631Q	NA	getma.org/?cm=var&var=hg19,6,168363191,G,C&fts=all	E1631Q	--	--	1																																		MLLT4_uc003qwc.1_Missense_Mutation_p.E1629Q|MLLT4_uc003qwg.1_Missense_Mutation_p.E940Q	1,1			probably_damaging(0.993)	p.E1641Q	NM_001040001	NP_001035090		deleterious_low_confidence(0.01)	1,1	AFAD_HUMAN	MLLT4	HGNC	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)			31	5063	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	UPI000047089C	1631			Potential.		SNV	MLLT4,missense_variant,p.Glu1631Gln,ENST00000366806,;MLLT4,missense_variant,p.Glu1641Gln,ENST00000400822,;MLLT4,missense_variant,p.Glu1614Gln,ENST00000392112,NM_001207008.1;MLLT4,missense_variant,p.Glu1629Gln,ENST00000392108,NM_001040000.2;MLLT4,missense_variant,p.Glu1638Gln,ENST00000351017,;MLLT4,missense_variant,p.Glu1631Gln,ENST00000447894,;MLLT4,missense_variant,p.Glu1643Gln,ENST00000344191,;MLLT4,missense_variant,p.Glu120Gln,ENST00000507704,;MLLT4,missense_variant,p.Glu107Gln,ENST00000476946,;MLLT4,upstream_gene_variant,,ENST00000515794,;MLLT4,upstream_gene_variant,,ENST00000485634,;MLLT4,non_coding_transcript_exon_variant,,ENST00000511637,;	uc003qwd.2	c.4921G>C	4891/5475	3	3			c.4921G>C	T		MLL		AL	6	SNP	c.(4921-4923)GAG>CAG	59	59			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5	Broad	myeloid/lymphoid or mixed-lineage leukemia			168363191		0.542	ENSG00000130396	9451	g.chr6:168363191G>C	adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			1250			1250	170.926912	KEEP	30	43	-1	62	75	30	43	-1	174.349321	62	75	0.341935	1	0	0	0	0	1	0	0	0	--	--		0	C			MLLT4_uc003qwc.1_Missense_Mutation_p.E1629Q|MLLT4_uc003qwg.1_Missense_Mutation_p.E940Q	40	GBM-06-0185-TP	p.E1641Q	G	AGCGAGGCAAGAGGAAGAGCG	NM_001040001	NP_001035090	168363191	P55196	AFAD_HUMAN	0		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	31	5063	+	C	C		Breast(66;1.07e-05)|Ovarian(120;0.024)	Missense_Mutation	1631			Potential.			
MLLT4	0	broad.mit.edu	GRCh37	6	168348980	168348980	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs145954704	byFrequency	TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392108.3:c.3632C>T	p.Thr1211Met	p.T1211M	ENST00000392108	NM_001040000.2	1211	aCg/aTg	0	T:0.0005		1			T	T/M	uc003qwd.2	protein_coding					3632/5475	T		MLL		AL				ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5	c.(3628-3630)ACG>ATG			hmmpanther:PTHR10398	myeloid/lymphoid or mixed-lineage leukemia			T:0.0001	ENSP00000404595		28/33	2.47E-05	0.000193				1.50E-05			rs145954704,COSM2854838,COSM2854839,COSM2854837	28/33	.		ENST00000447894	Transcript			adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	ENSG00000130396	g.chr6:168348980C>T	7137			MODERATE		1.95	medium	getma.org/?cm=msa&ty=f&p=AFAD_HUMAN&rb=1114&re=1822&var=T1211M	NA	getma.org/?cm=var&var=hg19,6,168348980,C,T&fts=all	T1211M	--	--	1																																		MLLT4_uc003qwb.1_Missense_Mutation_p.T1195M|MLLT4_uc003qwc.1_Missense_Mutation_p.T1211M|MLLT4_uc003qwg.1_Missense_Mutation_p.T520M	0,1,1,1			benign(0.25)	p.T1210M	NM_001040001	NP_001035090		tolerated_low_confidence(0.09)	0,1,1,1	AFAD_HUMAN	MLLT4	HGNC	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)			28	3771	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	UPI000047089C	1211					SNV	MLLT4,missense_variant,p.Thr1211Met,ENST00000366806,;MLLT4,missense_variant,p.Thr1210Met,ENST00000400822,;MLLT4,missense_variant,p.Thr1194Met,ENST00000392112,NM_001207008.1;MLLT4,missense_variant,p.Thr1211Met,ENST00000392108,NM_001040000.2;MLLT4,missense_variant,p.Thr1218Met,ENST00000351017,;MLLT4,missense_variant,p.Thr1211Met,ENST00000447894,;MLLT4,missense_variant,p.Thr1211Met,ENST00000344191,;MLLT4,upstream_gene_variant,,ENST00000507704,;MLLT4,upstream_gene_variant,,ENST00000476946,;MLLT4,downstream_gene_variant,,ENST00000507679,;MLLT4,non_coding_transcript_exon_variant,,ENST00000511637,;MLLT4,non_coding_transcript_exon_variant,,ENST00000366809,;MLLT4,non_coding_transcript_exon_variant,,ENST00000509296,;	uc003qwd.2	c.3629C>T	3632/5475	2	2			c.3629C>T	T		MLL		AL	6	SNP	c.(3628-3630)ACG>ATG	32	32			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5	Broad	myeloid/lymphoid or mixed-lineage leukemia			168348980		0.418	ENSG00000130396	9451	g.chr6:168348980C>T	adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding		p.T1210M(SNU1040-Tumor)	1250		p.T1210M(SNU1040-Tumor)	1250	96.441135	KEEP	21	15	-1	13	8	21	15	-1	96.978283	13	8	0.612245	1	0	0	0	0	1	0	0	0	--	--		0	T			MLLT4_uc003qwb.1_Missense_Mutation_p.T1195M|MLLT4_uc003qwc.1_Missense_Mutation_p.T1211M|MLLT4_uc003qwg.1_Missense_Mutation_p.T520M	102	GBM-06-5858-TP	p.T1210M	C	CAGGAGCAGACGCCTCCGCCT	NM_001040001	NP_001035090	168348980	P55196	AFAD_HUMAN	0		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	28	3771	+	T	T		Breast(66;1.07e-05)|Ovarian(120;0.024)	Missense_Mutation	1211						
MLLT4	0	broad.mit.edu	GRCh37	6	168317900	168317900	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-19-2623-01	TCGA-19-2623-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000447894.2:c.2679delT	p.Phe893LeufsTer7	p.F893Lfs*7	ENST00000447894		892	ccT/cc	0			1			-	P/X	uc003qwd.2	protein_coding					2676/5475	T		MLL		AL				ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5	c.(2671-2673)CCTfs			PROSITE_profiles:PS51126,hmmpanther:PTHR10398	myeloid/lymphoid or mixed-lineage leukemia				ENSP00000404595		19/33										19/33	.		ENST00000447894	Transcript			adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	ENSG00000130396	g.chr6:168317900delT	7137	3		HIGH								--	--	1																																		MLLT4_uc003qwb.1_Frame_Shift_Del_p.P876fs|MLLT4_uc003qwc.1_Frame_Shift_Del_p.P892fs|MLLT4_uc003qwg.1_Frame_Shift_Del_p.P201fs					p.P891fs	NM_001040001	NP_001035090				AFAD_HUMAN	MLLT4	HGNC	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)			19	2815	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	UPI000047089C	892			Dilute.		deletion	MLLT4,frameshift_variant,p.Phe893LeufsTer7,ENST00000366806,;MLLT4,frameshift_variant,p.Phe892LeufsTer7,ENST00000400822,;MLLT4,frameshift_variant,p.Phe877LeufsTer7,ENST00000392112,NM_001207008.1;MLLT4,frameshift_variant,p.Phe893LeufsTer7,ENST00000392108,NM_001040000.2;MLLT4,frameshift_variant,p.Phe900LeufsTer7,ENST00000351017,;MLLT4,frameshift_variant,p.Phe893LeufsTer7,ENST00000447894,;MLLT4,frameshift_variant,p.Phe893LeufsTer7,ENST00000344191,;MLLT4,frameshift_variant,p.Phe56LeufsTer7,ENST00000497596,;MLLT4,non_coding_transcript_exon_variant,,ENST00000511637,;MLLT4,non_coding_transcript_exon_variant,,ENST00000366809,;	uc003qwd.2	c.2673delT	2676/5475	5	5			c.2673delT	T		MLL		AL	6	DEL	c.(2671-2673)CCTfs	11	11			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5	Broad	myeloid/lymphoid or mixed-lineage leukemia			168317900		0.398	ENSG00000130396	9451	g.chr6:168317900delT	adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			1250			1250														0.02	1	1	0	1	0	0	0	0	0	--	--		0	-			MLLT4_uc003qwb.1_Frame_Shift_Del_p.P876fs|MLLT4_uc003qwc.1_Frame_Shift_Del_p.P892fs|MLLT4_uc003qwg.1_Frame_Shift_Del_p.P201fs	163	GBM-19-2623-TP	p.P891fs	T	CTGATGAGCCTTTTATCCCAA	NM_001040001	NP_001035090	168317900	P55196	AFAD_HUMAN	0		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	19	2815	+	-	-		Breast(66;1.07e-05)|Ovarian(120;0.024)	Frame_Shift_Del	892			Dilute.			
MLLT4	0	broad.mit.edu	GRCh37	6	168343837	168343837	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-2625-01	TCGA-19-2625-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000447894.2:c.3107A>G	p.Tyr1036Cys	p.Y1036C	ENST00000447894		1036	tAt/tGt	0			1			G	Y/C	uc003qwd.2	protein_coding					3107/5475	T		MLL		AL				ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5	c.(3103-3105)TAT>TGT			PROSITE_profiles:PS50106,hmmpanther:PTHR10398,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156	myeloid/lymphoid or mixed-lineage leukemia				ENSP00000404595		23/33									COSM3410790,COSM3410791,COSM3410789	23/33	.		ENST00000447894	Transcript			adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	ENSG00000130396	g.chr6:168343837A>G	7137			MODERATE		3.345	medium	getma.org/?cm=msa&ty=f&p=AFAD_HUMAN&rb=1008&re=1090&var=Y1036C	getma.org/pdb.php?prot=AFAD_HUMAN&from=1008&to=1090&var=Y1036C	getma.org/?cm=var&var=hg19,6,168343837,A,G&fts=all	Y1036C	--	--	1																																		MLLT4_uc003qwb.1_Missense_Mutation_p.Y1020C|MLLT4_uc003qwc.1_Missense_Mutation_p.Y1036C|MLLT4_uc003qwg.1_Missense_Mutation_p.Y345C	1,1,1			probably_damaging(0.999)	p.Y1035C	NM_001040001	NP_001035090		deleterious(0)	1,1,1	AFAD_HUMAN	MLLT4	HGNC	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)			23	3246	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	UPI000047089C	1036			PDZ.		SNV	MLLT4,missense_variant,p.Tyr1036Cys,ENST00000366806,;MLLT4,missense_variant,p.Tyr1035Cys,ENST00000400822,;MLLT4,missense_variant,p.Tyr1020Cys,ENST00000392112,NM_001207008.1;MLLT4,missense_variant,p.Tyr1036Cys,ENST00000392108,NM_001040000.2;MLLT4,missense_variant,p.Tyr1043Cys,ENST00000351017,;MLLT4,missense_variant,p.Tyr1036Cys,ENST00000447894,;MLLT4,missense_variant,p.Tyr1036Cys,ENST00000344191,;MLLT4,non_coding_transcript_exon_variant,,ENST00000507679,;MLLT4,non_coding_transcript_exon_variant,,ENST00000511637,;MLLT4,non_coding_transcript_exon_variant,,ENST00000366809,;MLLT4,upstream_gene_variant,,ENST00000509296,;	uc003qwd.2	c.3104A>G	3107/5475	3	3			c.3104A>G	T		MLL		AL	6	SNP	c.(3103-3105)TAT>TGT	50	50			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5	Broad	myeloid/lymphoid or mixed-lineage leukemia			168343837		0.373	ENSG00000130396	9451	g.chr6:168343837A>G	adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			1250			1250	118.11831	KEEP	31	11	-1	43	43	31	11	-1	121.273949	43	43	0.317757	1	0	0	0	0	1	0	0	0	--	--		0	G			MLLT4_uc003qwb.1_Missense_Mutation_p.Y1020C|MLLT4_uc003qwc.1_Missense_Mutation_p.Y1036C|MLLT4_uc003qwg.1_Missense_Mutation_p.Y345C	165	GBM-19-2625-TP	p.Y1035C	A	CTAGGAATCTATGTGAAGTCG	NM_001040001	NP_001035090	168343837	P55196	AFAD_HUMAN	0		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	23	3246	+	G	G		Breast(66;1.07e-05)|Ovarian(120;0.024)	Missense_Mutation	1036			PDZ.			
MLLT6	4302	broad.mit.edu	GRCh37	17	36873166	36873166	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0648-01	TCGA-06-0648-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325718.7:c.1583C>T	p.Ser528Phe	p.S528F	ENST00000325718	NM_005937.3	528	tCc/tTc	0			1			T	S/F	uc002hqi.3	protein_coding	YES	CCDS11327.1			1583/3282	T		MLL		AL				breast(3)|prostate(1)|lung(1)|skin(1)	6	c.(1582-1584)TCC>TTC			hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF82,Low_complexity_(Seg):seg	myeloid/lymphoid or mixed-lineage leukemia				ENSP00000316426		20-Oct									COSM2151401	20-Oct	.		ENST00000325718	Transcript			regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	ENSG00000108292	g.chr17:36873166C>T	7138			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=AF17_HUMAN&rb=188&re=1091&var=S528F	NA	getma.org/?cm=var&var=hg19,17,36873166,C,T&fts=all	S528F	--	--	1																																		MLLT6_uc002hqj.2_Intron|MLLT6_uc002hqk.3_5'Flank	1	1		unknown(0)	p.S528F	NM_005937	NP_005928		deleterious(0.01)	1	AF17_HUMAN	MLLT6	HGNC	P55198	AF17_HUMAN					10	1596	+	Breast(7;4.43e-21)		UPI000013C86A	528					SNV	MLLT6,missense_variant,p.Ser528Phe,ENST00000325718,NM_005937.3;MLLT6,downstream_gene_variant,,ENST00000378137,;MLLT6,upstream_gene_variant,,ENST00000471200,;MIR4726,upstream_gene_variant,,ENST00000577947,;CTB-58E17.9,intron_variant,,ENST00000579499,;MLLT6,upstream_gene_variant,,ENST00000494578,;MLLT6,downstream_gene_variant,,ENST00000578946,;MLLT6,downstream_gene_variant,,ENST00000466997,;MLLT6,upstream_gene_variant,,ENST00000433891,;	uc002hqi.3	c.1583C>T	1674/7578	2	2			c.1583C>T	T		MLL		AL	17	SNP	c.(1582-1584)TCC>TTC	27	27			breast(3)|prostate(1)|lung(1)|skin(1)	6	Broad	myeloid/lymphoid or mixed-lineage leukemia			36873166		0.637	ENSG00000108292	9452	g.chr17:36873166C>T	regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			439			439	53.104606	KEEP	10	12	-1	22	22	10	12	-1	54.897371	22	22	0.316667	1	0	0	0	0	1	0	0	0	--	--		0	T			MLLT6_uc002hqj.2_Intron|MLLT6_uc002hqk.3_5'Flank	61	GBM-06-0648-TP	p.S528F	C	GGAGGTCTGTCCTCCCGAACC	NM_005937	NP_005928	36873166	P55198	AF17_HUMAN	0			10	1596	+	T	T	Breast(7;4.43e-21)		Missense_Mutation	528						
MLN	0	broad.mit.edu	GRCh37	6	33768891	33768891	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6282-01	TCGA-76-6282-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000430124.2:c.50C>T	p.Ala17Val	p.A17V	ENST00000430124	NM_001040109.1	17	gCc/gTc	0			1			A	A/V	uc003off.1	protein_coding	YES	CCDS4786.1			50/348										0	c.(49-51)GCC>GTC			hmmpanther:PTHR14156,hmmpanther:PTHR14156:SF0,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,Transmembrane_helices:TMhelix	motilin isoform 1 preproprotein				ENSP00000388825		5-Feb									COSM3411018	5-Feb	.		ENST00000430124	Transcript			cell-cell signaling|G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	hormone activity	ENSG00000096395	g.chr6:33768891G>A	7141			MODERATE		1.6	low	getma.org/?cm=msa&ty=f&p=MOTI_HUMAN&rb=1&re=56&var=A17V	NA	getma.org/?cm=var&var=hg19,6,33768891,G,A&fts=all	A17V	--	--	1																																		MLN_uc003ofg.1_Missense_Mutation_p.A17V|MLN_uc011drn.1_Missense_Mutation_p.A17V	1	1		benign(0.02)	p.A17V	NM_002418	NP_002409		tolerated(0.17)	1	MOTI_HUMAN	MLN	HGNC	P12872	MOTI_HUMAN					2	121	-			UPI000012F3E4	17					SNV	MLN,missense_variant,p.Ala17Val,ENST00000430124,NM_001040109.1,NM_002418.2,NM_001184698.1;MLN,missense_variant,p.Ala17Val,ENST00000266003,;MLN,missense_variant,p.Ala17Val,ENST00000507738,;	uc003off.1	c.50C>T	116/566	2	2			c.50C>T						6	SNP	c.(49-51)GCC>GTC	36	36				0	Broad	motilin isoform 1 preproprotein			33768891		0.537	ENSG00000096395	9453	g.chr6:33768891G>A	cell-cell signaling|G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	hormone activity							91.276588	KEEP	13	24	-1	43	49	13	24	-1	96.246374	43	49	0.286885	1	0	0	0	0	1	0	0	0	--	--		0	A			MLN_uc003ofg.1_Missense_Mutation_p.A17V|MLN_uc011drn.1_Missense_Mutation_p.A17V	278	GBM-76-6282-TP	p.A17V	G	GGCCAGCATGGCAGCTACATG	NM_002418	NP_002409	33768891	P12872	MOTI_HUMAN	0			2	121	-	A	A			Missense_Mutation	17						
MLPH	79083		GRCh37	2	238449110	238449110	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000264605.3:c.1224C>A	p.Ala408=	p.A408=	ENST00000264605	NM_024101.6	408	gcC/gcA	0																																																																																																																																																																																																																																												
MLST8	64223		GRCh37	16	2256651	2256651	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000569417.1:c.337del	p.Asp113ThrfsTer15	p.D113Tfs*15	ENST00000569417	NM_022372.4	112	tGg/tg	0																																																																																																																																																																																																																																												
MLST8	64223		GRCh37	16	2256621	2256621	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000569417.1:c.305C>T	p.Thr102Met	p.T102M	ENST00000569417	NM_022372.4	102	aCg/aTg	0																																																																																																																																																																																																																																												
MLTK	0	broad.mit.edu	GRCh37	2	174131096	174131096	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01	TCGA-27-1836-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375213.3:c.2021C>T	p.Ser674Leu	p.S674L	ENST00000375213	NM_016653.2	674	tCa/tTa	0			1			T	S/L	uc002uhz.2	protein_coding	YES	CCDS42777.1			2021/2403									lung(3)|stomach(1)|ovary(1)|skin(1)	6	c.(2020-2022)TCA>TTA				MLK-related kinase isoform 1				ENSP00000364361		20/20									COSM3407063	20/20	.		ENST00000375213	Transcript			activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation	cytoplasm|nucleus	ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	ENSG00000091436	g.chr2:174131096C>T				MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=MLTK_HUMAN&rb=555&re=798&var=S674L	NA	getma.org/?cm=var&var=hg19,2,174131096,C,T&fts=all	S674L	--	--	1																																		uc002uib.2_Intron	1	1		benign(0.001)	p.S674L	NM_016653	NP_057737		tolerated_low_confidence(0.15)	1	MLTK_HUMAN	MLTK	Uniprot_gn	Q9NYL2	MLTK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.176)		C9J3F7_HUMAN		20	2221	+			UPI0000073F69	674					SNV	MLTK,missense_variant,p.Ser674Leu,ENST00000375213,NM_016653.2;MLTK,missense_variant,p.Ser674Leu,ENST00000409176,;MLK7-AS1,intron_variant,,ENST00000423106,;MLK7-AS1,intron_variant,,ENST00000422703,;	uc002uhz.2	c.2021C>T	2099/3741	2	2			c.2021C>T						2	SNP	c.(2020-2022)TCA>TTA	47	47			lung(3)|stomach(1)|ovary(1)|skin(1)	6	Broad	MLK-related kinase isoform 1			174131096		0.448	ENSG00000091436	17256	g.chr2:174131096C>T	activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation	cytoplasm|nucleus	ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			532			532	-21.813981	KEEP	2	3	-1	59	68	2	3	-1	7.55641	59	68	0.03252	1	0	0	0	0	1	0	0	0	--	--		0	T			uc002uib.2_Intron	195	GBM-27-1836-TP	p.S674L	C	GGTCGATACTCAGACAGAAGC	NM_016653	NP_057737	174131096	Q9NYL2	MLTK_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.176)		20	2221	+	T	T			Missense_Mutation	674						
MLTK	0	broad.mit.edu	GRCh37	2	174131422	174131422	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2638-01	TCGA-32-2638-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375213.3:c.2347G>A	p.Ala783Thr	p.A783T	ENST00000375213	NM_016653.2	783	Gcc/Acc	0			1			A	A/T	uc002uhz.2	protein_coding	YES	CCDS42777.1			2347/2403									lung(3)|stomach(1)|ovary(1)|skin(1)	6	c.(2347-2349)GCC>ACC				MLK-related kinase isoform 1				ENSP00000364361		20/20	4.14E-05			0.000257		3.06E-05		0.000251	rs768503188,COSM3407064	20/20	.		ENST00000375213	Transcript			activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation	cytoplasm|nucleus	ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	ENSG00000091436	g.chr2:174131422G>A				MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=MLTK_HUMAN&rb=555&re=798&var=A783T	NA	getma.org/?cm=var&var=hg19,2,174131422,G,A&fts=all	A783T	--	--	1																																		uc002uib.2_Intron	0,1	1		benign(0.002)	p.A783T	NM_016653	NP_057737		tolerated_low_confidence(0.13)	0,1	MLTK_HUMAN	MLTK	Uniprot_gn	Q9NYL2	MLTK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.176)		C9J3F7_HUMAN		20	2547	+			UPI0000073F69	783					SNV	MLTK,missense_variant,p.Ala783Thr,ENST00000375213,NM_016653.2;MLTK,missense_variant,p.Ala783Thr,ENST00000409176,;MLK7-AS1,intron_variant,,ENST00000423106,;MLK7-AS1,intron_variant,,ENST00000422703,;	uc002uhz.2	c.2347G>A	2425/3741	2	2			c.2347G>A						2	SNP	c.(2347-2349)GCC>ACC	30	30			lung(3)|stomach(1)|ovary(1)|skin(1)	6	Broad	MLK-related kinase isoform 1			174131422		0.473	ENSG00000091436	17256	g.chr2:174131422G>A	activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation	cytoplasm|nucleus	ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			532			532	29.951071	KEEP	3	7	-1	2	5	3	7	-1	30.066311	2	5	0.588235	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002uib.2_Intron	242	GBM-32-2638-TP	p.A783T	G	GCCATCTCCCGCCAAAACCAA	NM_016653	NP_057737	174131422	Q9NYL2	MLTK_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.176)		20	2547	+	A	A			Missense_Mutation	783						
MLXIP	0	broad.mit.edu	GRCh37	12	122613736	122613736	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01	TCGA-12-0615-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319080.7:c.659G>A	p.Arg220Gln	p.R220Q	ENST00000319080	NM_014938.4_dupl16	220	cGg/cAg	0			1			A	R/Q	uc001ubq.2	protein_coding	YES				659/2760									ovary(2)	2	c.(658-660)CGG>CAG			hmmpanther:PTHR15741,hmmpanther:PTHR15741:SF23	MLX interacting protein				ENSP00000312834		17-Apr									COSM692607	17-Apr	.		ENST00000319080	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	ENSG00000175727	g.chr12:122613736G>A	17055			MODERATE								--	--	1																																		MLXIP_uc001ubr.2_5'UTR|MLXIP_uc001ubs.1_5'Flank	1	1		probably_damaging(0.998)	p.R220Q	NM_014938	NP_055753		deleterious(0)	1	MLXIP_HUMAN	MLXIP	HGNC	Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	F5H321_HUMAN		4	659	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	UPI0000D6226F	220			Required for cytoplasmic localization.		SNV	MLXIP,missense_variant,p.Arg220Gln,ENST00000319080,NM_014938.4_dupl16;MLXIP,5_prime_UTR_variant,,ENST00000535430,;MLXIP,upstream_gene_variant,,ENST00000538698,;MLXIP,upstream_gene_variant,,ENST00000377037,;MLXIP,non_coding_transcript_exon_variant,,ENST00000539861,;MLXIP,non_coding_transcript_exon_variant,,ENST00000535876,;MLXIP,upstream_gene_variant,,ENST00000541750,;MLXIP,upstream_gene_variant,,ENST00000538061,;	uc001ubq.2	c.659G>A	791/8427	2	2			c.659G>A						12	SNP	c.(658-660)CGG>CAG	29	29			ovary(2)	2	Broad	MLX interacting protein			122613736		0.557	ENSG00000175727	9458	g.chr12:122613736G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	Esophageal Squamous(105;787 1493 16200 18566 52466)			Esophageal Squamous(105;787 1493 16200 18566 52466)			27.362166	KEEP	6	5	-1	14	13	6	5	-1	28.737726	14	13	0.28125	1	0	0	0	0	1	0	0	0	--	--		0	A			MLXIP_uc001ubr.2_5'UTR|MLXIP_uc001ubs.1_5'Flank	117	GBM-12-0615-TP	p.R220Q	G	ATTGTGATCCGGGAGTATCAC	NM_014938	NP_055753	122613736	Q9HAP2	MLXIP_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	4	659	+	A	A	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	Missense_Mutation	220			Required for cytoplasmic localization.			
MLXIPL	51085		GRCh37	7	73010591	73010591	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000313375.3:c.1950G>T	p.Arg650=	p.R650=	ENST00000313375	NM_032953.2	650	cgG/cgT	0																																																																																																																																																																																																																																												
MLYCD	0	broad.mit.edu	GRCh37	16	83933176	83933176	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-14-1825-01	TCGA-14-1825-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262430.4:c.427C>G	p.His143Asp	p.H143D	ENST00000262430	NM_012213.2	143	Cac/Gac	0			1			G	H/D	uc002fgz.2	protein_coding	YES	CCDS42206.1			427/1482										0	c.(427-429)CAC>GAC			Pfam_domain:PF05292	malonyl-CoA decarboxylase precursor				ENSP00000262430		5-Jan									COSM3402519	5-Jan	.		ENST00000262430	Transcript	1		acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity	ENSG00000103150	g.chr16:83933176C>G	7150			MODERATE		2.47	medium	getma.org/?cm=msa&ty=f&p=DCMC_HUMAN&rb=111&re=457&var=H143D	getma.org/pdb.php?prot=DCMC_HUMAN&from=111&to=457&var=H143D	getma.org/?cm=var&var=hg19,16,83933176,C,G&fts=all	H143D	--	--	1																																			1	1		benign(0.043)	p.H143D	NM_012213	NP_036345		deleterious(0.05)	1	DCMC_HUMAN	MLYCD	HGNC	O95822	DCMC_HUMAN					1	447	+			UPI0000128FD5	143					SNV	MLYCD,missense_variant,p.His143Asp,ENST00000262430,NM_012213.2;	uc002fgz.2	c.427C>G	446/2194	4	4			c.427C>G						16	SNP	c.(427-429)CAC>GAC	23	23				0	Broad	malonyl-CoA decarboxylase precursor			83933176		0.731	ENSG00000103150	9460	g.chr16:83933176C>G	acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity							14.46859	KEEP	2	4	-1	7	5	2	4	-1	14.96968	7	5	0.3125	1	0	0	0	0	1	0	0	0	--	--		0	G				148	GBM-14-1825-TP	p.H143D	C	CCTCTTCCACCACATCAGCAA	NM_012213	NP_036345	83933176	O95822	DCMC_HUMAN	0			1	447	+	G	G			Missense_Mutation	143						
MMAA	0	broad.mit.edu	GRCh37	4	146576356	146576356	+	stop_gained	Nonsense_Mutation	SNP	A	A	T			TCGA-14-1450-01	TCGA-14-1450-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281317.5:c.1027A>T	p.Lys343Ter	p.K343*	ENST00000281317	NM_172250.2	343	Aaa/Taa	0			1			T	K/*	uc003ikh.3	protein_coding	YES	CCDS3766.1			1027/1257									ovary(1)	1	c.(1027-1029)AAA>TAA			hmmpanther:PTHR23408:SF3,hmmpanther:PTHR23408,Pfam_domain:PF03308,TIGRFAM_domain:TIGR00750,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	methylmalonic aciduria type A precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)			ENSP00000281317		7-Jul									COSM3409074	7-Jul	.		ENST00000281317	Transcript	1			mitochondrion	GTP binding|nucleoside-triphosphatase activity	ENSG00000151611	g.chr4:146576356A>T	18871			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,4,146576356,A,T&fts=all	K343*	--	--	1																																		MMAA_uc010iow.2_RNA	1	1			p.K343*	NM_172250	NP_758454			1	MMAA_HUMAN	MMAA	HGNC	Q8IVH4	MMAA_HUMAN			Q495G6_HUMAN		7	1112	+	all_hematologic(180;0.151)		UPI000005032D	343					SNV	MMAA,stop_gained,p.Lys343Ter,ENST00000281317,NM_172250.2;MMAA,stop_gained,p.Lys62Ter,ENST00000541599,;RP11-557J10.4,upstream_gene_variant,,ENST00000504555,;MMAA,3_prime_UTR_variant,,ENST00000511969,;MMAA,non_coding_transcript_exon_variant,,ENST00000503730,;	uc003ikh.3	c.1027A>T	2237/7068	5	2			c.1027A>T						4	SNP	c.(1027-1029)AAA>TAA	32	32			ovary(1)	1	Broad	methylmalonic aciduria type A precursor		Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	146576356		0.428	ENSG00000151611	9461	g.chr4:146576356A>T		mitochondrion	GTP binding|nucleoside-triphosphatase activity							47.170714	KEEP	11	10	-1	24	24	11	10	-1	49.041032	24	24	0.31746	1	0	0	0	0	0	1	0	0	--	--		0	T			MMAA_uc010iow.2_RNA	145	GBM-14-1450-TP	p.K343*	A	GGATAAAATGAAAGATTTCCA	NM_172250	NP_758454	146576356	Q8IVH4	MMAA_HUMAN	0			7	1112	+	T	T	all_hematologic(180;0.151)		Nonsense_Mutation	343						
MMAB	326625	broad.mit.edu	GRCh37	12	109994906	109994906	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01	TCGA-06-2557-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000545712.2:c.680C>T	p.Ala227Val	p.A227V	ENST00000545712	NM_052845.3	227	gCa/gTa	0			1			A	A/V	uc001tou.2	protein_coding	YES	CCDS9131.1			680/753										0	c.(679-681)GCA>GTA			Gene3D:1.20.1200.10,Pfam_domain:PF01923,hmmpanther:PTHR12213,hmmpanther:PTHR12213:SF0,Superfamily_domains:SSF89028,TIGRFAM_domain:TIGR00636	cob(I)alamin adenosyltransferase precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)			ENSP00000445920		9-Sep									COSM3398332	9-Sep	.		ENST00000545712	Transcript	1		cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity	ENSG00000139428	g.chr12:109994906G>A	19331			MODERATE		1.6	low	getma.org/?cm=msa&ty=f&p=MMAB_HUMAN&rb=58&re=228&var=A227V	getma.org/pdb.php?prot=MMAB_HUMAN&from=58&to=228&var=A227V	getma.org/?cm=var&var=hg19,12,109994906,G,A&fts=all	A227V	--	--	1																																		MMAB_uc001tov.2_RNA|MMAB_uc001tow.2_RNA|MMAB_uc010sxq.1_Missense_Mutation_p.A136V|MMAB_uc001tox.2_Missense_Mutation_p.A175V	1	1		benign(0.032)	p.A227V	NM_052845	NP_443077		tolerated(0.29)	1	MMAB_HUMAN	MMAB	HGNC	Q96EY8	MMAB_HUMAN			F5H4Z7_HUMAN		9	753	-			UPI0000073CBF	227					SNV	MMAB,missense_variant,p.Ala227Val,ENST00000545712,NM_052845.3;MMAB,missense_variant,p.Ala136Val,ENST00000266839,;MMAB,missense_variant,p.Ala175Val,ENST00000540016,;MMAB,3_prime_UTR_variant,,ENST00000541763,;MMAB,3_prime_UTR_variant,,ENST00000537496,;MMAB,3_prime_UTR_variant,,ENST00000544051,;MMAB,downstream_gene_variant,,ENST00000420167,;MMAB,downstream_gene_variant,,ENST00000503497,;MMAB,downstream_gene_variant,,ENST00000542390,;	uc001tou.2	c.680C>T	1074/4438	1	1			c.680C>T						12	SNP	c.(679-681)GCA>GTA	63	63				0	Broad	cob(I)alamin adenosyltransferase precursor		Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	109994906		0.473	ENSG00000139428	9462	g.chr12:109994906G>A	cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity							-17.799076	KEEP	3	1	-1	69	52	3	1	-1	6.727991	69	52	0.037736	1	0	0	0	0	1	0	0	0	--	--		0	A			MMAB_uc001tov.2_RNA|MMAB_uc001tow.2_RNA|MMAB_uc010sxq.1_Missense_Mutation_p.A136V|MMAB_uc001tox.2_Missense_Mutation_p.A175V	81	GBM-06-2557-TP	p.A227V	G	CTTCATGGCTGCATATCTGGC	NM_052845	NP_443077	109994906	Q96EY8	MMAB_HUMAN	0			9	753	-	A	A			Missense_Mutation	227						
MMD2	0	broad.mit.edu	GRCh37	7	4947054	4947054	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-41-4097-01	TCGA-41-4097-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000404774.3:c.786C>A	p.Ser262Arg	p.S262R	ENST00000404774	NM_001100600.1	262	agC/agA	0			1			T	S/R	uc003sno.3	protein_coding	YES	CCDS47529.1			786/813									central_nervous_system(1)	1	c.(784-786)AGC>AGA			hmmpanther:PTHR20855,hmmpanther:PTHR20855:SF21	monocyte to macrophage				ENSP00000384690		7-Jul									COSM3412138,COSM3412137	7-Jul	.		ENST00000404774	Transcript				integral to membrane	receptor activity	ENSG00000136297	g.chr7:4947054G>T	30133			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=PAQRA_HUMAN&rb=222&re=270&var=S262R	NA	getma.org/?cm=var&var=hg19,7,4947054,G,T&fts=all	S262R	--	--	1																																		MMD2_uc003snl.1_Intron|MMD2_uc003snn.3_Missense_Mutation_p.S238R|MMD2_uc010ksq.2_3'UTR	1,1	1		benign(0.211)	p.S262R	NM_001100600	NP_001094070		tolerated(0.26)	1,1	PAQRA_HUMAN	MMD2	HGNC	Q8IY49	PAQRA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)			7	982	-		Ovarian(82;0.0175)	UPI000016199F	262			Extracellular (Potential).		SNV	MMD2,missense_variant,p.Ser262Arg,ENST00000404774,NM_001100600.1;MMD2,missense_variant,p.Ser238Arg,ENST00000401401,NM_198403.3;MMD2,3_prime_UTR_variant,,ENST00000406755,NM_001270375.1;	uc003sno.3	c.786C>A	981/2415	2	2			c.786C>A						7	SNP	c.(784-786)AGC>AGA	18	18			central_nervous_system(1)	1	Broad	monocyte to macrophage			4947054		0.542	ENSG00000136297	9466	g.chr7:4947054G>T		integral to membrane	receptor activity							-6.978392	KEEP	6	7	0.461538462	72	90	6	7	0.461538462	21.147354	72	90	0.068493	1	0	0	0	0	1	0	0	0	--	--		0	T			MMD2_uc003snl.1_Intron|MMD2_uc003snn.3_Missense_Mutation_p.S238R|MMD2_uc010ksq.2_3'UTR	257	GBM-41-4097-TP	p.S262R	G	TCTGCAGGGTGCTGGGCAGAT	NM_001100600	NP_001094070	4947054	Q8IY49	PAQRA_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)	7	982	-	T	T		Ovarian(82;0.0175)	Missense_Mutation	262			Extracellular (Potential).			
MME	4311	broad.mit.edu	GRCh37	3	154832945	154832945	+	splice_donor_variant	Splice_Site	SNP	G	G	A			TCGA-06-6388-01	TCGA-06-6388-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000460393.1:c.358+1G>A		p.X120_splice	ENST00000460393	NM_007287.2	120		0			1			A		uc010hvr.1	protein_coding		CCDS3172.1			358/2253									ovary(2)|central_nervous_system(1)	3	c.e4+1				membrane metallo-endopeptidase	Candoxatril(DB00616)			ENSP00000353679											COSM3408373		.		ENST00000360490	Transcript			cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	ENSG00000196549	g.chr3:154832945G>A	7154			HIGH	22-Apr							--	--	1																																		MME_uc003fab.1_Splice_Site_p.D120_splice|MME_uc003fac.1_Splice_Site_p.D120_splice|MME_uc003fad.1_Splice_Site_p.D120_splice|MME_uc003fae.1_Splice_Site_p.D120_splice	1				p.D120_splice	NM_007289	NP_009220			1	NEP_HUMAN	MME	HGNC	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		C9JR96_HUMAN,C9JDZ3_HUMAN,C9J9X7_HUMAN,C9IYX7_HUMAN		4	569	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	UPI0000033C41						SNV	MME,splice_donor_variant,,ENST00000460393,NM_007287.2,NM_000902.3;MME,splice_donor_variant,,ENST00000462745,NM_007288.2;MME,splice_donor_variant,,ENST00000492661,;MME,splice_donor_variant,,ENST00000493237,;MME,splice_donor_variant,,ENST00000360490,NM_007289.2;MME,splice_donor_variant,,ENST00000481828,;MME,splice_donor_variant,,ENST00000462837,;MME,downstream_gene_variant,,ENST00000473730,;MME,downstream_gene_variant,,ENST00000491026,;MME,downstream_gene_variant,,ENST00000477669,;	uc010hvr.1	c.358_splice	-/2360	5	1			c.358_splice						3	SNP	c.e4+1	53	53			ovary(2)|central_nervous_system(1)	3	Broad	membrane metallo-endopeptidase		Candoxatril(DB00616)	154832945		0.378	ENSG00000196549	9467	g.chr3:154832945G>A	cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding							75.346388	KEEP	13	19	-1	14	29	13	19	-1	75.684711	14	29	0.424242	1	0	0	0	0	0	0	0	1	--	--		0	A			MME_uc003fab.1_Splice_Site_p.D120_splice|MME_uc003fac.1_Splice_Site_p.D120_splice|MME_uc003fad.1_Splice_Site_p.D120_splice|MME_uc003fae.1_Splice_Site_p.D120_splice	104	GBM-06-6388-TP	p.D120_splice	G	GTTTTGAAAGGTTAGTAGAGA	NM_007289	NP_009220	154832945	P08473	NEP_HUMAN	0	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		4	569	+	A	A		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	Splice_Site							
MMEL1	79258	broad.mit.edu	GRCh37	1	2524105	2524105	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0190-01	TCGA-06-0190-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378412.3:c.2056C>A	p.Gln686Lys	p.Q686K	ENST00000378412		686	Caa/Aaa	0			1			T	Q/K	uc001ajy.2	protein_coding	YES	CCDS30569.2			2056/2340										0	c.(2056-2058)CAA>AAA			hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF112,Pfam_domain:PF01431,Gene3D:3.40.390.10,Superfamily_domains:SSF55486,Prints_domain:PR00786	membrane metallo-endopeptidase-like 1				ENSP00000367668		21/24	0.0014	0.00364	0.000364	0.000121	0.00371	0.00127		8.19E-05	rs201706260,COSM3747841	21/24	common_variant		ENST00000378412	Transcript	1		proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	ENSG00000142606	g.chr1:2524105G>T	14668			MODERATE		2.575	medium	getma.org/?cm=msa&ty=f&p=MMEL1_HUMAN&rb=572&re=778&var=Q686K	getma.org/pdb.php?prot=MMEL1_HUMAN&from=572&to=778&var=Q686K	getma.org/?cm=var&var=hg19,1,2524105,G,T&fts=all	Q686K	--	--	1																																		MMEL1_uc009vlg.1_RNA	0,1	1		probably_damaging(0.999)	p.Q686K	NM_033467	NP_258428		deleterious(0)	0,1	MMEL1_HUMAN	MMEL1	HGNC	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)			21	2270	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	UPI0000047596	686			Lumenal (Potential).		SNV	MMEL1,missense_variant,p.Gln677Lys,ENST00000288709,NM_033467.3;MMEL1,missense_variant,p.Gln686Lys,ENST00000378412,;MMEL1,missense_variant,p.Gln529Lys,ENST00000502556,;MMEL1,missense_variant,p.Gln5Lys,ENST00000471840,;FAM213B,downstream_gene_variant,,ENST00000378424,;FAM213B,downstream_gene_variant,,ENST00000444521,NM_001195736.1;FAM213B,downstream_gene_variant,,ENST00000419916,NM_152371.3;FAM213B,downstream_gene_variant,,ENST00000378425,;FAM213B,downstream_gene_variant,,ENST00000378427,NM_001195737.1,NM_001195738.1;FAM213B,downstream_gene_variant,,ENST00000537325,NM_001195740.1,NM_001195741.1;FAM213B,downstream_gene_variant,,ENST00000465233,;FAM213B,downstream_gene_variant,,ENST00000498083,;FAM213B,downstream_gene_variant,,ENST00000484099,;FAM213B,downstream_gene_variant,,ENST00000476686,;FAM213B,downstream_gene_variant,,ENST00000464043,;FAM213B,downstream_gene_variant,,ENST00000493183,;FAM213B,downstream_gene_variant,,ENST00000474659,;FAM213B,downstream_gene_variant,,ENST00000481683,;FAM213B,downstream_gene_variant,,ENST00000477045,;MMEL1,3_prime_UTR_variant,,ENST00000504800,;MMEL1,non_coding_transcript_exon_variant,,ENST00000464195,;MMEL1,non_coding_transcript_exon_variant,,ENST00000469962,;MMEL1,intron_variant,,ENST00000491941,;	uc001ajy.2	c.2056C>A	2218/2849	2	2			c.2056C>A						1	SNP	c.(2056-2058)CAA>AAA	21	21				0	Broad	membrane metallo-endopeptidase-like 1			2524105		0.647	ENSG00000142606	9468	g.chr1:2524105G>T	proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity							6.590422	KEEP	5	22	0.185185185	13	10	5	22	0.185185185	7.869801	13	10	0.222222	1	0	0	0	0	1	0	0	0	--	--		0	T			MMEL1_uc009vlg.1_RNA	43	GBM-06-0190-TP	p.Q686K	G	TTATAGGCTTGCCGCACCCCT	NM_033467	NP_258428	2524105	Q495T6	MMEL1_HUMAN	0		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	21	2270	-	T	T	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	Missense_Mutation	686			Lumenal (Potential).			
MMEL1	79258		GRCh37	1	2527458	2527458	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000378412.3:c.1490C>T	p.Ala497Val	p.A497V	ENST00000378412		497	gCg/gTg	0																																																																																																																																																																																																																																												
MMP1	4312	broad.mit.edu	GRCh37	11	102663439	102663439	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-02-2486-01	TCGA-02-2486-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315274.6:c.930G>A	p.Pro310=	p.P310=	ENST00000315274	NM_002421.3	310	ccG/ccA	0		T:0	1	T:0		T	P	uc001phi.2	protein_coding	YES	CCDS8322.1			930/1410									skin(2)|ovary(1)|lung(1)	4	c.(928-930)CCG>CCA			Gene3D:2.110.10.10,Pfam_domain:PF00045,PIRSF_domain:PIRSF001191,PROSITE_profiles:PS51642,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF127,SMART_domains:SM00120,Superfamily_domains:SSF50923	matrix metalloproteinase 1 isoform 1		T:0		ENSP00000322788	T:0	10-Jul	0.000156		8.68E-05	0.000116		8.99E-05		0.000666	rs571363149,COSM1350402	10-Jul	common_variant		ENST00000315274	Transcript	1	T:0.0008	blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	ENSG00000196611	g.chr11:102663439C>T	7155			LOW								--	--	1																																		uc001phh.1_Intron|MMP1_uc010ruv.1_Silent_p.P244P	0,1	1			p.P310P	NM_002421	NP_002412	T:0.0041		0,1	MMP1_HUMAN	MMP1	HGNC	P03956	MMP1_HUMAN	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Q96DZ4_HUMAN,B4DN15_HUMAN,A5GZ69_HUMAN		7	1073	-	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	UPI00000422BA	310			Hemopexin-like 1.		SNV	MMP1,synonymous_variant,p.=,ENST00000315274,NM_002421.3,NM_001145938.1;WTAPP1,intron_variant,,ENST00000525739,;WTAPP1,intron_variant,,ENST00000544704,;WTAPP1,intron_variant,,ENST00000371455,;	uc001phi.2	c.930G>A	998/1970	1	1			c.930G>A						11	SNP	c.(928-930)CCG>CCA	16	16			skin(2)|ovary(1)|lung(1)	4	Broad	matrix metalloproteinase 1 isoform 1			102663439		0.423	ENSG00000196611	9470	g.chr11:102663439C>T	blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			227			227	213.342914	KEEP	31	44	-1	68	75	31	44	-1	217.803409	68	75	0.344498	1	0	0	0	0	0	0	1	0	--	--		0	T			uc001phh.1_Intron|MMP1_uc010ruv.1_Silent_p.P244P	8	GBM-02-2486-TP	p.P310P	C	GCTCAACTTCCGGGTAGAAGG	NM_002421	NP_002412	102663439	P03956	MMP1_HUMAN	0	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	7	1073	-	T	T	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Silent	310			Hemopexin-like 1.			
MMP1	0	broad.mit.edu	GRCh37	11	102665949	102665949	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-19-5952-01	TCGA-19-5952-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315274.6:c.855T>A	p.Asp285Glu	p.D285E	ENST00000315274	NM_002421.3	285	gaT/gaA	0			1			T	D/E	uc001phi.2	protein_coding	YES	CCDS8322.1			855/1410									skin(2)|ovary(1)|lung(1)	4	c.(853-855)GAT>GAA			Gene3D:2.110.10.10,Pfam_domain:PF00045,PIRSF_domain:PIRSF001191,PROSITE_profiles:PS51642,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF127,SMART_domains:SM00120,Superfamily_domains:SSF50923	matrix metalloproteinase 1 isoform 1				ENSP00000322788		10-Jun									COSM2156677	10-Jun	.		ENST00000315274	Transcript	1		blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	ENSG00000196611	g.chr11:102665949A>T	7155			MODERATE		3.7	high	getma.org/?cm=msa&ty=f&p=MMP1_HUMAN&rb=284&re=326&var=D285E	getma.org/pdb.php?prot=MMP1_HUMAN&from=284&to=326&var=D285E	getma.org/?cm=var&var=hg19,11,102665949,A,T&fts=all	D285E	--	--	1																																		uc001phh.1_RNA|MMP1_uc010ruv.1_Missense_Mutation_p.D219E	1	1		probably_damaging(0.956)	p.D285E	NM_002421	NP_002412		deleterious(0)	1	MMP1_HUMAN	MMP1	HGNC	P03956	MMP1_HUMAN	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Q96DZ4_HUMAN,B4DN15_HUMAN,A5GZ69_HUMAN		6	998	-	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	UPI00000422BA	285			Hemopexin-like 1.	Calcium 4; via carbonyl oxygen (By similarity).	SNV	MMP1,missense_variant,p.Asp285Glu,ENST00000315274,NM_002421.3,NM_001145938.1;WTAPP1,non_coding_transcript_exon_variant,,ENST00000525739,;WTAPP1,intron_variant,,ENST00000544704,;WTAPP1,intron_variant,,ENST00000371455,;	uc001phi.2	c.855T>A	923/1970	2	2			c.855T>A						11	SNP	c.(853-855)GAT>GAA	37	37			skin(2)|ovary(1)|lung(1)	4	Broad	matrix metalloproteinase 1 isoform 1			102665949		0.403	ENSG00000196611	9470	g.chr11:102665949A>T	blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			227			227	191.395359	KEEP	37	33	-1	47	85	37	33	-1	195.298682	47	85	0.342697	1	0	0	0	0	1	0	0	0	--	--		0	T			uc001phh.1_RNA|MMP1_uc010ruv.1_Missense_Mutation_p.D219E	172	GBM-19-5952-TP	p.D285E	A	TAGTTATAGCATCAAAGGTTA	NM_002421	NP_002412	102665949	P03956	MMP1_HUMAN	0	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	6	998	-	T	T	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Missense_Mutation	285			Hemopexin-like 1.	Calcium 4; via carbonyl oxygen (By similarity).		
MMP1	4312		GRCh37	11	102663372	102663372	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000315274.6:c.997G>A	p.Glu333Lys	p.E333K	ENST00000315274	NM_002421.3	333	Gaa/Aaa	0																																																																																																																																																																																																																																												
MMP10	4319	broad.mit.edu	GRCh37	11	102647144	102647144	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01	TCGA-06-5415-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000279441.4:c.799G>A	p.Ala267Thr	p.A267T	ENST00000279441	NM_002425.2	267	Gcc/Acc	0			1			T	A/T	uc001phg.1	protein_coding	YES	CCDS8321.1			799/1431									kidney(1)|lung(1)|breast(1)|central_nervous_system(1)	4	c.(799-801)GCC>ACC			Gene3D:3.40.390.10,PIRSF_domain:PIRSF001191,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF126	matrix metalloproteinase 10 preproprotein				ENSP00000279441		10-Jun									COSM2153215	10-Jun	.		ENST00000279441	Transcript			collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	ENSG00000166670	g.chr11:102647144C>T	7156			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=MMP10_HUMAN&rb=264&re=294&var=A267T	NA	getma.org/?cm=var&var=hg19,11,102647144,C,T&fts=all	A267T	--	--	1																																			1	1		benign(0.001)	p.A267T	NM_002425	NP_002416		tolerated(0.57)	1	MMP10_HUMAN	MMP10	HGNC	P09238	MMP10_HUMAN	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)			6	821	-	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	UPI00000422C0	267					SNV	MMP10,missense_variant,p.Ala267Thr,ENST00000279441,NM_002425.2;MMP10,downstream_gene_variant,,ENST00000539681,;WTAPP1,intron_variant,,ENST00000371455,;	uc001phg.1	c.799G>A	836/1758	2	2			c.799G>A						11	SNP	c.(799-801)GCC>ACC	47	47			kidney(1)|lung(1)|breast(1)|central_nervous_system(1)	4	Broad	matrix metalloproteinase 10 preproprotein			102647144		0.468	ENSG00000166670	9471	g.chr11:102647144C>T	collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding							127.55941	KEEP	24	22	-1	23	34	24	22	-1	127.580888	23	34	0.483871	1	0	0	0	0	1	0	0	0	--	--		0	T				98	GBM-06-5415-TP	p.A267T	C	TCAGTAGAGGCAGGGGGAGGT	NM_002425	NP_002416	102647144	P09238	MMP10_HUMAN	0	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	6	821	-	T	T	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Missense_Mutation	267						
MMP10	0	broad.mit.edu	GRCh37	11	102646042	102646042	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs150825082	byFrequency	TCGA-14-0781-01	TCGA-14-0781-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000279441.4:c.943C>T	p.Arg315Ter	p.R315*	ENST00000279441	NM_002425.2	315	Cga/Tga	0	A:0.0009	A:0	1	A:0		A	R/*	uc001phg.1	protein_coding	YES	CCDS8321.1			943/1431									kidney(1)|lung(1)|breast(1)|central_nervous_system(1)	4	c.(943-945)CGA>TGA			Gene3D:2.110.10.10,Pfam_domain:PF00045,PIRSF_domain:PIRSF001191,PROSITE_profiles:PS51642,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF126,SMART_domains:SM00120,Superfamily_domains:SSF50923	matrix metalloproteinase 10 preproprotein		A:0.001	A:0	ENSP00000279441	A:0	10-Jul	0.000107	0.000973		0.000347					rs150825082,COSM922275	10-Jul	common_variant		ENST00000279441	Transcript		A:0.0002	collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	ENSG00000166670	g.chr11:102646042G>A	7156			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,11,102646042,G,A&fts=all	R315*	--	--	1																																			0,1	1			p.R315*	NM_002425	NP_002416	A:0		0,1	MMP10_HUMAN	MMP10	HGNC	P09238	MMP10_HUMAN	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)			7	965	-	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	UPI00000422C0	315			Hemopexin-like 1.		SNV	MMP10,stop_gained,p.Arg315Ter,ENST00000279441,NM_002425.2;MMP10,downstream_gene_variant,,ENST00000539681,;WTAPP1,intron_variant,,ENST00000371455,;	uc001phg.1	c.943C>T	980/1758	5	2			c.943C>T						11	SNP	c.(943-945)CGA>TGA	33	33			kidney(1)|lung(1)|breast(1)|central_nervous_system(1)	4	Broad	matrix metalloproteinase 10 preproprotein			102646042		0.333	ENSG00000166670	9471	g.chr11:102646042G>A	collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding							5.713242	KEEP	3	0	-1	7	9	3	0	-1	7.609899	7	9	0.166667	1	0	0	0	0	0	1	0	0	--	--		0	A				133	GBM-14-0781-TP	p.R315*	G	TGGGATCTTCGCCAAAAATAT	NM_002425	NP_002416	102646042	P09238	MMP10_HUMAN	0	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	7	965	-	A	A	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Nonsense_Mutation	315			Hemopexin-like 1.			
MMP12	0	broad.mit.edu	GRCh37	11	102743841	102743841	+	splice_region_variant,non_coding_transcript_exon_variant	Splice_Region	SNP	C	C	G			TCGA-12-0616-01	TCGA-12-0616-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000532855.1:n.201G>C		p.X67_splice	ENST00000532855				0			1			G		uc001phk.2	processed_transcript	YES														0	c.(103-105)AGA>ACA				matrix metalloproteinase 12 preproprotein	Acetohydroxamic Acid(DB00551)					10-Feb									COSM3397362	10-Feb	.		ENST00000532855	Transcript			positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	ENSG00000110347	g.chr11:102743841C>G	7158			LOW								--	--	1																																			1	1			p.R35T	NM_002426	NP_002417			1		MMP12	HGNC	P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)			2	149	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		35					SNV	MMP12,splice_region_variant,,ENST00000532855,;MMP12,splice_region_variant,,ENST00000326227,;	uc001phk.2	c.104G>C	201/1873	3	3			c.104G>C						11	SNP	c.(103-105)AGA>ACA	4	4				0	Broad	matrix metalloproteinase 12 preproprotein		Acetohydroxamic Acid(DB00551)	102743841		0.328	ENSG00000110347	9473	g.chr11:102743841C>G	positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding							85.665583	KEEP	12	13	-1	1	7	12	13	-1	87.435034	1	7	0.758621	1	0	0	0	0	1	0	0	0	--	--		0	G				118	GBM-12-0616-TP	p.R35T	C	TTCTAAGTATCTCTGGAAAAA	NM_002426	NP_002417	102743841	P39900	MMP12_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;0.014)	2	149	-	G	G		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Missense_Mutation	35						
MMP13	0	broad.mit.edu	GRCh37	11	102825250	102825250	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0688-01	TCGA-12-0688-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260302.3:c.448C>T	p.Pro150Ser	p.P150S	ENST00000260302	NM_002427.3	150	Cct/Tct	0			1			A	P/S	uc001phl.2	protein_coding	YES	CCDS8324.1			448/1416									ovary(2)|skin(1)	3	c.(448-450)CCT>TCT			Gene3D:3.40.390.10,Pfam_domain:PF00413,PIRSF_domain:PIRSF001191,Prints_domain:PR00138,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF130,SMART_domains:SM00235,Superfamily_domains:SSF55486	matrix metalloproteinase 13 preproprotein				ENSP00000260302		10-Mar									COSM2153921	10-Mar	.		ENST00000260302	Transcript	1		collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	ENSG00000137745	g.chr11:102825250G>A	7159			MODERATE		2.885	medium	getma.org/?cm=msa&ty=f&p=MMP13_HUMAN&rb=112&re=267&var=P150S	getma.org/pdb.php?prot=MMP13_HUMAN&from=112&to=267&var=P150S	getma.org/?cm=var&var=hg19,11,102825250,G,A&fts=all	P150S	--	--	1																																			1	1		probably_damaging(0.974)	p.P150S	NM_002427	NP_002418		deleterious(0.02)	1	MMP13_HUMAN	MMP13	HGNC	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Q6LBE5_HUMAN		3	476	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	UPI00000422BC	150					SNV	MMP13,missense_variant,p.Pro150Ser,ENST00000260302,NM_002427.3;MMP13,missense_variant,p.Pro150Ser,ENST00000340273,;	uc001phl.2	c.448C>T	477/2716	1	1			c.448C>T						11	SNP	c.(448-450)CCT>TCT	56	56			ovary(2)|skin(1)	3	Broad	matrix metalloproteinase 13 preproprotein			102825250		0.343	ENSG00000137745	9474	g.chr11:102825250G>A	collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding							124.866964	KEEP	27	15	-1	35	29	27	15	-1	125.434164	35	29	0.418367	1	0	0	0	0	1	0	0	0	--	--		0	A				121	GBM-12-0688-TP	p.P150S	G	AAATTCAGAGGAGTTACATCG	NM_002427	NP_002418	102825250	P45452	MMP13_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;0.0144)	3	476	-	A	A		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Missense_Mutation	150						
MMP13	0	broad.mit.edu	GRCh37	11	102822797	102822797	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1832-01	TCGA-27-1832-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260302.3:c.743G>A	p.Gly248Asp	p.G248D	ENST00000260302	NM_002427.3	248	gGc/gAc	0			1			T	G/D	uc001phl.2	protein_coding	YES	CCDS8324.1			743/1416									ovary(2)|skin(1)	3	c.(742-744)GGC>GAC			Gene3D:3.40.390.10,Pfam_domain:PF00413,PIRSF_domain:PIRSF001191,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF130,SMART_domains:SM00235,Superfamily_domains:SSF55486	matrix metalloproteinase 13 preproprotein				ENSP00000260302		10-May									COSM466222	10-May	.		ENST00000260302	Transcript	1		collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	ENSG00000137745	g.chr11:102822797C>T	7159			MODERATE		-0.88	neutral	getma.org/?cm=msa&ty=f&p=MMP13_HUMAN&rb=112&re=267&var=G248D	getma.org/pdb.php?prot=MMP13_HUMAN&from=112&to=267&var=G248D	getma.org/?cm=var&var=hg19,11,102822797,C,T&fts=all	G248D	--	--	1																																			1	1		benign(0.049)	p.G248D	NM_002427	NP_002418		tolerated(1)	1	MMP13_HUMAN	MMP13	HGNC	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Q6LBE5_HUMAN		5	771	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	UPI00000422BC	248					SNV	MMP13,missense_variant,p.Gly248Asp,ENST00000260302,NM_002427.3;MMP13,missense_variant,p.Gly248Asp,ENST00000340273,;	uc001phl.2	c.743G>A	772/2716	2	2			c.743G>A						11	SNP	c.(742-744)GGC>GAC	36	36			ovary(2)|skin(1)	3	Broad	matrix metalloproteinase 13 preproprotein			102822797		0.448	ENSG00000137745	9474	g.chr11:102822797C>T	collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding							-104.828959	KEEP	3	3	-1	265	190	3	3	-1	9.400696	265	190	0.014118	1	0	0	0	0	1	0	0	0	--	--		0	T				191	GBM-27-1832-TP	p.G248D	C	GTGGCTTTTGCCGGTGTAGGT	NM_002427	NP_002418	102822797	P45452	MMP13_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;0.0144)	5	771	-	T	T		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Missense_Mutation	248						
MMP13	0	broad.mit.edu	GRCh37	11	102816396	102816396	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-27-2527-01	TCGA-27-2527-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260302.3:c.1294G>T	p.Asp432Tyr	p.D432Y	ENST00000260302	NM_002427.3	432	Gat/Tat	0			1			A	D/Y	uc001phl.2	protein_coding	YES	CCDS8324.1			1294/1416									ovary(2)|skin(1)	3	c.(1294-1296)GAT>TAT			Gene3D:2.110.10.10,Pfam_domain:PF00045,PIRSF_domain:PIRSF001191,PROSITE_profiles:PS51642,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF130,SMART_domains:SM00120,Superfamily_domains:SSF50923	matrix metalloproteinase 13 preproprotein				ENSP00000260302		10-Sep									COSM3397363	10-Sep	.		ENST00000260302	Transcript	1		collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	ENSG00000137745	g.chr11:102816396C>A	7159			MODERATE		3.14	medium	getma.org/?cm=msa&ty=f&p=MMP13_HUMAN&rb=431&re=471&var=D432Y	getma.org/pdb.php?prot=MMP13_HUMAN&from=431&to=471&var=D432Y	getma.org/?cm=var&var=hg19,11,102816396,C,A&fts=all	D432Y	--	--	1																																			1	1		probably_damaging(1)	p.D432Y	NM_002427	NP_002418		deleterious(0)	1	MMP13_HUMAN	MMP13	HGNC	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Q6LBE5_HUMAN		9	1322	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	UPI00000422BC	432			Hemopexin-like 4.	Calcium 3; via carbonyl oxygen (By similarity).	SNV	MMP13,missense_variant,p.Asp432Tyr,ENST00000260302,NM_002427.3;MMP13,missense_variant,p.Asp432Tyr,ENST00000340273,;	uc001phl.2	c.1294G>T	1323/2716	1	1			c.1294G>T						11	SNP	c.(1294-1296)GAT>TAT	57	57			ovary(2)|skin(1)	3	Broad	matrix metalloproteinase 13 preproprotein			102816396		0.328	ENSG00000137745	9474	g.chr11:102816396C>A	collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding							40.82963	KEEP	11	16	0.592592593	71	95	11	16	0.592592593	59.978441	71	95	0.154762	1	0	0	0	0	1	0	0	0	--	--		0	A				204	GBM-27-2527-TP	p.D432Y	C	TAGACAGCATCTACTTTATCA	NM_002427	NP_002418	102816396	P45452	MMP13_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;0.0144)	9	1322	-	A	A		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Missense_Mutation	432			Hemopexin-like 4.	Calcium 3; via carbonyl oxygen (By similarity).		
MMP13	0	broad.mit.edu	GRCh37	11	102826101	102826101	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01	TCGA-27-2527-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260302.3:c.242G>A	p.Gly81Asp	p.G81D	ENST00000260302	NM_002427.3	81	gGc/gAc	0			1			T	G/D	uc001phl.2	protein_coding	YES	CCDS8324.1			242/1416									ovary(2)|skin(1)	3	c.(241-243)GGC>GAC			Gene3D:3.40.390.10,Pfam_domain:PF01471,PIRSF_domain:PIRSF001191,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF130,Superfamily_domains:SSF47090	matrix metalloproteinase 13 preproprotein				ENSP00000260302		10-Feb									COSM3397365	10-Feb	.		ENST00000260302	Transcript	1		collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	ENSG00000137745	g.chr11:102826101C>T	7159			MODERATE		3.725	high	getma.org/?cm=msa&ty=f&p=MMP13_HUMAN&rb=32&re=91&var=G81D	getma.org/pdb.php?prot=MMP13_HUMAN&from=32&to=91&var=G81D	getma.org/?cm=var&var=hg19,11,102826101,C,T&fts=all	G81D	--	--	1																																			1	1		probably_damaging(1)	p.G81D	NM_002427	NP_002418		deleterious(0)	1	MMP13_HUMAN	MMP13	HGNC	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Q6LBE5_HUMAN		2	270	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	UPI00000422BC	81					SNV	MMP13,missense_variant,p.Gly81Asp,ENST00000260302,NM_002427.3;MMP13,missense_variant,p.Gly81Asp,ENST00000340273,;	uc001phl.2	c.242G>A	271/2716	1	1			c.242G>A						11	SNP	c.(241-243)GGC>GAC	1	1			ovary(2)|skin(1)	3	Broad	matrix metalloproteinase 13 preproprotein			102826101		0.473	ENSG00000137745	9474	g.chr11:102826101C>T	collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding							-91.038685	KEEP	3	2	-1	226	183	3	2	-1	7.63087	226	183	0.013661	1	0	0	0	0	1	0	0	0	--	--		0	T				204	GBM-27-2527-TP	p.G81D	C	GTCAAGTTTGCCAGTCACCTC	NM_002427	NP_002418	102826101	P45452	MMP13_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;0.0144)	2	270	-	T	T		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Missense_Mutation	81						
MMP13	4322		GRCh37	11	102826186	102826186	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000260302.3:c.157G>A	p.Ala53Thr	p.A53T	ENST00000260302	NM_002427.3	53	Gcg/Acg	0																																																																																																																																																																																																																																												
MMP14	0	broad.mit.edu	GRCh37	14	23312494	23312494	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-4209-01	TCGA-32-4209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311852.6:c.717C>T	p.His239=	p.H239=	ENST00000311852	NM_004995.3	239	caC/caT	0		T:0	1	T:0		T	H	uc001whc.2	protein_coding	YES	CCDS9577.1			717/1749										0	c.(715-717)CAC>CAT			hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF24,Gene3D:3.40.390.10,Pfam_domain:PF00413,PIRSF_domain:PIRSF001191,SMART_domains:SM00235,Superfamily_domains:SSF55486,Prints_domain:PR00138	matrix metalloproteinase 14 preproprotein		T:0.001		ENSP00000308208	T:0	10-May	0.000107			0.00104		3.01E-05		0.000122	rs548260059,COSM3401234	10-May	common_variant		ENST00000311852	Transcript	1	T:0.0002		extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	ENSG00000157227	g.chr14:23312494C>T	7160			LOW								--	--	1																																			0,1	1			p.H239H	NM_004995	NP_004986	T:0		0,1	MMP14_HUMAN	MMP14	HGNC	P50281	MMP14_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)			5	951	+	all_cancers(95;9.47e-05)		UPI0000048136	239			Extracellular (Potential).	Zinc; catalytic.	SNV	MMP14,synonymous_variant,p.=,ENST00000311852,NM_004995.3;MMP14,downstream_gene_variant,,ENST00000548761,;MMP14,non_coding_transcript_exon_variant,,ENST00000548162,;MMP14,downstream_gene_variant,,ENST00000547596,;MMP14,downstream_gene_variant,,ENST00000547074,;	uc001whc.2	c.717C>T	978/3732	1	1			c.717C>T						14	SNP	c.(715-717)CAC>CAT	13	13				0	Broad	matrix metalloproteinase 14 preproprotein			23312494		0.602	ENSG00000157227	9475	g.chr14:23312494C>T		extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding							128.295578	KEEP	24	26	-1	16	43	24	26	-1	128.333089	16	43	0.478261	1	0	0	0	0	0	0	1	0	--	--		0	T				244	GBM-32-4209-TP	p.H239H	C	TGGCTGTGCACGAGCTGGGCC	NM_004995	NP_004986	23312494	P50281	MMP14_HUMAN	0		GBM - Glioblastoma multiforme(265;0.00551)	5	951	+	T	T	all_cancers(95;9.47e-05)		Silent	239			Extracellular (Potential).	Zinc; catalytic.		
MMP15	4324		GRCh37	16	58079116	58079116	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000219271.3:c.1776C>T	p.Gly592=	p.G592=	ENST00000219271	NM_002428.2	592	ggC/ggT	0																																																																																																																																																																																																																																												
MMP19	0	broad.mit.edu	GRCh37	12	56231702	56231702	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-14-1825-01	TCGA-14-1825-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322569.4:c.985C>G	p.Leu329Val	p.L329V	ENST00000322569	NM_002429.5	329	Ctt/Gtt	0			1			C	L/V	uc001sib.2	protein_coding	YES	CCDS8895.1			985/1527									ovary(1)	1	c.(985-987)CTT>GTT			Gene3D:2.110.10.10,PIRSF_domain:PIRSF001191,PROSITE_profiles:PS51642,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF117,SMART_domains:SM00120,Superfamily_domains:SSF50923	matrix metalloproteinase 19 isoform rasi-1				ENSP00000313437		9-Jul									COSM3398880,COSM3398881	9-Jul	.		ENST00000322569	Transcript			angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	ENSG00000123342	g.chr12:56231702G>C	7165			MODERATE		0.955	low	getma.org/?cm=msa&ty=f&p=MMP19_HUMAN&rb=293&re=335&var=L329V	NA	getma.org/?cm=var&var=hg19,12,56231702,G,C&fts=all	L329V	--	--	1																																		MMP19_uc001sia.2_Missense_Mutation_p.L43V|MMP19_uc001sid.2_RNA|MMP19_uc010spw.1_Missense_Mutation_p.P282R	1,1	1		possibly_damaging(0.882)	p.L329V	NM_002429	NP_002420		tolerated(0.05)	1,1	MMP19_HUMAN	MMP19	HGNC	Q99542	MMP19_HUMAN					7	1106	-			UPI0000030AE6	329			Hemopexin-like 1.		SNV	MMP19,missense_variant,p.Leu43Val,ENST00000394182,;MMP19,missense_variant,p.Leu329Val,ENST00000322569,NM_002429.5;MMP19,missense_variant,p.Leu306Val,ENST00000548629,;MMP19,missense_variant,p.Pro282Arg,ENST00000409200,NM_001272101.1;TMEM198B,downstream_gene_variant,,ENST00000478241,;TMEM198B,downstream_gene_variant,,ENST00000508246,;TMEM198B,downstream_gene_variant,,ENST00000482378,;TMEM198B,downstream_gene_variant,,ENST00000471276,;TMEM198B,downstream_gene_variant,,ENST00000487582,;MMP19,downstream_gene_variant,,ENST00000547487,;MMP19,downstream_gene_variant,,ENST00000547299,;MMP19,3_prime_UTR_variant,,ENST00000548882,;MMP19,3_prime_UTR_variant,,ENST00000552872,;MMP19,non_coding_transcript_exon_variant,,ENST00000547685,;MMP19,downstream_gene_variant,,ENST00000552763,;TMEM198B,downstream_gene_variant,,ENST00000484016,;	uc001sib.2	c.985C>G	1077/2229	3	3			c.985C>G						12	SNP	c.(985-987)CTT>GTT	16	16			ovary(1)	1	Broad	matrix metalloproteinase 19 isoform rasi-1			56231702		0.542	ENSG00000123342	9479	g.chr12:56231702G>C	angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding							126.469964	KEEP	26	29	-1	38	41	26	29	-1	127.072982	38	41	0.419048	1	0	0	0	0	1	0	0	0	--	--		0	C			MMP19_uc001sia.2_Missense_Mutation_p.L43V|MMP19_uc001sid.2_RNA|MMP19_uc010spw.1_Missense_Mutation_p.P282R	148	GBM-14-1825-TP	p.L329V	G	CCCTCCCAAAGGGCAGACACT	NM_002429	NP_002420	56231702	Q99542	MMP19_HUMAN	0			7	1106	-	C	C			Missense_Mutation	329			Hemopexin-like 1.			
MMP19	4327		GRCh37	12	56230872	56230872	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000322569.4:c.1475G>A	p.Gly492Asp	p.G492D	ENST00000322569	NM_002429.5	492	gGc/gAc	0																																																																																																																																																																																																																																												
MMP2	4313	broad.mit.edu	GRCh37	16	55525753	55525753	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5408-01	TCGA-06-5408-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000219070.4:c.1221C>T	p.His407=	p.H407=	ENST00000219070	NM_004530.4	407	caC/caT	0			1			T	H	uc002ehz.3	protein_coding	YES	CCDS10752.1			1221/1983									large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11	c.(1219-1221)CAC>CAT			hmmpanther:PTHR10201:SF29,hmmpanther:PTHR10201,Gene3D:3.40.390.10,Pfam_domain:PF00413,SMART_domains:SM00235,Superfamily_domains:SSF55486,Prints_domain:PR00138	matrix metalloproteinase 2 isoform a	Marimastat(DB00786)|Sulindac(DB00605)			ENSP00000219070		13-Aug	3.29E-05			0.000116		1.50E-05	0.0011	6.06E-05	rs772843973,COSM3402368	13-Aug	.		ENST00000219070	Transcript	1		angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	ENSG00000087245	g.chr16:55525753C>T	7166			LOW								--	--	1																																		MMP2_uc010vhd.1_Silent_p.H331H|MMP2_uc010ccc.2_Silent_p.H357H|MMP2_uc002eia.3_5'Flank	0,1	1			p.H407H	NM_004530	NP_004521			0,1	MMP2_HUMAN	MMP2	HGNC	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Q2EF79_HUMAN,H3BV48_HUMAN,H3BR66_HUMAN		8	1532	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	UPI00000422C4	407			Collagenase-like 2.	Zinc 2; catalytic (By similarity).	SNV	MMP2,synonymous_variant,p.=,ENST00000219070,NM_004530.4;MMP2,synonymous_variant,p.=,ENST00000570308,;MMP2,synonymous_variant,p.=,ENST00000437642,NM_001127891.1;MMP2,synonymous_variant,p.=,ENST00000543485,;MMP2,synonymous_variant,p.=,ENST00000570283,;	uc002ehz.3	c.1221C>T	1730/3741	2	2			c.1221C>T						16	SNP	c.(1219-1221)CAC>CAT	48	48			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11	Broad	matrix metalloproteinase 2 isoform a		Marimastat(DB00786)|Sulindac(DB00605)	55525753		0.577	ENSG00000087245	9480	g.chr16:55525753C>T	angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			275			275	21.991882	KEEP	7	8	-1	49	58	7	8	-1	34.969423	49	58	0.137255	1	0	0	0	0	0	0	1	0	--	--		0	T			MMP2_uc010vhd.1_Silent_p.H331H|MMP2_uc010ccc.2_Silent_p.H357H|MMP2_uc002eia.3_5'Flank	92	GBM-06-5408-TP	p.H407H	C	AGTTTGGCCACGCCATGGGGC	NM_004530	NP_004521	55525753	P08253	MMP2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	8	1532	+	T	T		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	Silent	407			Collagenase-like 2.	Zinc 2; catalytic (By similarity).		
MMP20	9313	broad.mit.edu	GRCh37	11	102477401	102477401	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs141875245	byFrequency	TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260228.2:c.818G>A	p.Arg273Gln	p.R273Q	ENST00000260228	NM_004771.3	273	cGg/cAg	0	T:0.0005		1			T	R/Q	uc001phc.2	protein_coding	YES	CCDS8318.1			818/1452									urinary_tract(1)|skin(1)	2	c.(817-819)CGG>CAG			Gene3D:3.40.390.10,PIRSF_domain:PIRSF001191,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF125,Superfamily_domains:SSF55486	matrix metalloproteinase 20 preproprotein			T:0.0002	ENSP00000260228		10-Jun	0.00014	0.000385	0.000259			0.000135	0.0011		rs141875245,COSM3397357	10-Jun	.		ENST00000260228	Transcript	1		proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	ENSG00000137674	g.chr11:102477401C>T	7167			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=MMP20_HUMAN&rb=272&re=346&var=R273Q	NA	getma.org/?cm=var&var=hg19,11,102477401,C,T&fts=all	R273Q	--	--	1																																			0,1	1		benign(0.018)	p.R273Q	NM_004771	NP_004762		tolerated(0.34)	0,1	MMP20_HUMAN	MMP20	HGNC	O60882	MMP20_HUMAN	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)			6	831	-	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	UPI000013D0B3	273					SNV	MMP20,missense_variant,p.Arg273Gln,ENST00000260228,NM_004771.3;RP11-817J15.2,upstream_gene_variant,,ENST00000542119,;RP11-817J15.2,upstream_gene_variant,,ENST00000544115,;MMP20,non_coding_transcript_exon_variant,,ENST00000544938,;	uc001phc.2	c.818G>A	831/1956	1	1			c.818G>A						11	SNP	c.(817-819)CGG>CAG	6	6			urinary_tract(1)|skin(1)	2	Broad	matrix metalloproteinase 20 preproprotein			102477401		0.522	ENSG00000137674	9481	g.chr11:102477401C>T	proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding		p.R273Q(NCIH1650-Tumor)|p.R273Q(CW2-Tumor)	637		p.R273Q(NCIH1650-Tumor)|p.R273Q(CW2-Tumor)	637	30.372724	KEEP	6	14	-1	45	56	6	14	-1	39.786226	45	56	0.186275	1	0	0	0	0	1	0	0	0	--	--		0	T				62	GBM-06-0649-TP	p.R273Q	C	GAATACTTTCCGAGGTCCTAG	NM_004771	NP_004762	102477401	O60882	MMP20_HUMAN	0	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	6	831	-	T	T	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Missense_Mutation	273						
MMP21	118856	broad.mit.edu	GRCh37	10	127456157	127456157	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0155-01	TCGA-06-0155-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368808.3:c.1354G>C	p.Asp452His	p.D452H	ENST00000368808	NM_147191.1	452	Gac/Cac	0			1			G	D/H	uc001liu.2	protein_coding	YES	CCDS7647.1			1354/1710									ovary(2)	2	c.(1354-1356)GAC>CAC			PROSITE_profiles:PS51642,hmmpanther:PTHR10201:SF123,hmmpanther:PTHR10201,Gene3D:2.110.10.10,Pfam_domain:PF00045,SMART_domains:SM00120,PIRSF_domain:PIRSF001191,Superfamily_domains:SSF50923	matrix metalloproteinase 21 preproprotein				ENSP00000357798		7-Jun									COSM2149961	7-Jun	.		ENST00000368808	Transcript			proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	ENSG00000154485	g.chr10:127456157C>G	14357			MODERATE		3.095	medium	getma.org/?cm=msa&ty=f&p=MMP21_HUMAN&rb=451&re=496&var=D452H	NA	getma.org/?cm=var&var=hg19,10,127456157,C,G&fts=all	D452H	--	--	1																																			1	1		probably_damaging(0.997)	p.D452H	NM_147191	NP_671724		deleterious(0)	1	MMP21_HUMAN	MMP21	HGNC	Q8N119	MMP21_HUMAN					6	1354	-		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	UPI000006FDF6	452			Hemopexin-like 3.		SNV	MMP21,missense_variant,p.Asp452His,ENST00000368808,NM_147191.1;EDRF1,downstream_gene_variant,,ENST00000337623,NM_015608.2;EDRF1,downstream_gene_variant,,ENST00000356792,NM_001202438.1;EDRF1,downstream_gene_variant,,ENST00000419769,;EDRF1,downstream_gene_variant,,ENST00000481600,;EDRF1,downstream_gene_variant,,ENST00000368815,;EDRF1,downstream_gene_variant,,ENST00000368812,;EDRF1,downstream_gene_variant,,ENST00000527655,;EDRF1,downstream_gene_variant,,ENST00000525358,;	uc001liu.2	c.1354G>C	1354/1919	3	3			c.1354G>C						10	SNP	c.(1354-1356)GAC>CAC	57	57			ovary(2)	2	Broad	matrix metalloproteinase 21 preproprotein			127456157		0.443	ENSG00000154485	9482	g.chr10:127456157C>G	proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding							300.829294	KEEP	40	44	-1	26	30	40	44	-1	301.932223	26	30	0.597015	1	0	0	0	0	1	0	0	0	--	--		0	G				27	GBM-06-0155-TP	p.D452H	C	AACGCCGTGTCTAGGGGACTT	NM_147191	NP_671724	127456157	Q8N119	MMP21_HUMAN	0			6	1354	-	G	G		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	Missense_Mutation	452			Hemopexin-like 3.			
MMP24	10893	broad.mit.edu	GRCh37	20	33851598	33851598	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0166-01	TCGA-06-0166-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000246186.6:c.822C>T	p.Asn274=	p.N274=	ENST00000246186	NM_006690.3	274	aaC/aaT	0		T:0	1	T:0		T	N	uc002xbu.2	protein_coding	YES	CCDS46593.1			822/1938										0	c.(820-822)AAC>AAT			Gene3D:3.40.390.10,Pfam_domain:PF00413,PIRSF_domain:PIRSF001191,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF138,SMART_domains:SM00235,Superfamily_domains:SSF55486	matrix metalloproteinase 24 preproprotein		T:0		ENSP00000246186	T:0.001	9-May									rs201850633,COSM3405037	9-May	.		ENST00000246186	Transcript		T:0.0002	proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	ENSG00000125966	g.chr20:33851598C>T	7172			LOW								--	--	1																																		EDEM2_uc010zuv.1_Intron	0,1	1			p.N274N	NM_006690	NP_006681	T:0		0,1	MMP24_HUMAN	MMP24	HGNC	Q9Y5R2	MMP24_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		Q86VV6_HUMAN		5	825	+			UPI000012F259	274			Extracellular (Potential).		SNV	MMP24,synonymous_variant,p.=,ENST00000246186,NM_006690.3;EDEM2,intron_variant,,ENST00000540582,;MMP24-AS1,intron_variant,,ENST00000566203,;MMP24-AS1,intron_variant,,ENST00000438751,;MMP24-AS1,intron_variant,,ENST00000456350,;MMP24-AS1,intron_variant,,ENST00000433764,;MMP24-AS1,intron_variant,,ENST00000454184,;MMP24-AS1,intron_variant,,ENST00000453892,;RP4-614O4.11,downstream_gene_variant,,ENST00000444717,;	uc002xbu.2	c.822C>T	907/4412	1	1			c.822C>T						20	SNP	c.(820-822)AAC>AAT	5	5				0	Broad	matrix metalloproteinase 24 preproprotein			33851598		0.522	ENSG00000125966	9483	g.chr20:33851598C>T	proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding							17.51141	KEEP	5	3	-1	6	7	5	3	-1	17.708867	6	7	0.388889	1	0	0	0	0	0	0	1	0	--	--		0	T			EDEM2_uc010zuv.1_Intron	31	GBM-06-0166-TP	p.N274N	C	CCACAGGGAACGACCTCTTCC	NM_006690	NP_006681	33851598	Q9Y5R2	MMP24_HUMAN	0	BRCA - Breast invasive adenocarcinoma(18;0.00252)		5	825	+	T	T			Silent	274			Extracellular (Potential).			
MMP26	56547	broad.mit.edu	GRCh37	11	5013297	5013297	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0188-01	TCGA-06-0188-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380390.1:c.699C>T	p.His233=	p.H233=	ENST00000380390		233	caC/caT	0			1			T	H	uc001lzv.2	protein_coding		CCDS7752.1			699/786										0	c.(697-699)CAC>CAT			Superfamily_domains:SSF55486,SMART_domains:SM00235,Gene3D:3.40.390.10,Pfam_domain:PF00413,hmmpanther:PTHR10201:SF76,hmmpanther:PTHR10201	matrix metalloproteinase 26 preproprotein				ENSP00000300762		6-May	8.24E-06					1.50E-05			rs778728830,COSM2150573	6-May	.		ENST00000300762	Transcript			collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000167346	g.chr11:5013297C>T	14249			LOW								--	--	1																																			0,1				p.H233H	NM_021801	NP_068573			0,1	MMP26_HUMAN	MMP26	HGNC	Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)			5	717	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	UPI0000047AFC	233					SNV	MMP26,synonymous_variant,p.=,ENST00000380390,;MMP26,synonymous_variant,p.=,ENST00000300762,NM_021801.3;MMP26,downstream_gene_variant,,ENST00000477339,;	uc001lzv.2	c.699C>T	717/989	2	2			c.699C>T						11	SNP	c.(697-699)CAC>CAT	28	28				0	Broad	matrix metalloproteinase 26 preproprotein			5013297		0.488	ENSG00000167346	9485	g.chr11:5013297C>T	collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding							167.750841	KEEP	36	25	-1	23	31	36	25	-1	167.80338	23	31	0.524272	1	0	0	0	0	0	0	1	0	--	--		0	T				41	GBM-06-0188-TP	p.H233H	C	ACTGGTATCACGACCCTAGAA	NM_021801	NP_068573	5013297	Q9NRE1	MMP26_HUMAN	0		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	5	717	+	T	T		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	Silent	233						
MMP26	0	broad.mit.edu	GRCh37	11	5012728	5012728	+	splice_donor_variant	Splice_Site	SNP	T	T	C			TCGA-06-6701-01	TCGA-06-6701-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300762.1:c.595+2T>C		p.X199_splice	ENST00000300762	NM_021801.3			0			1			C		uc001lzv.2	protein_coding		CCDS7752.1			595/786										0	c.e4+2				matrix metalloproteinase 26 preproprotein				ENSP00000300762											COSM3397755		.		ENST00000300762	Transcript			collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000167346	g.chr11:5012728T>C	14249			HIGH	5-Apr							--	--	1																																			1				p.G199_splice	NM_021801	NP_068573			1	MMP26_HUMAN	MMP26	HGNC	Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)			4	613	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	UPI0000047AFC						SNV	MMP26,splice_donor_variant,,ENST00000380390,;MMP26,splice_donor_variant,,ENST00000300762,NM_021801.3;MMP26,downstream_gene_variant,,ENST00000477339,;	uc001lzv.2	c.595_splice	-/989	5	3			c.595_splice						11	SNP	c.e4+2	58	58				0	Broad	matrix metalloproteinase 26 preproprotein			5012728		0.483	ENSG00000167346	9485	g.chr11:5012728T>C	collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding							-30.384732	KEEP	1	2	-1	97	65	1	2	-1	6.601984	97	65	0.020833	1	0	0	0	0	0	0	0	1	--	--		0	C				115	GBM-06-6701-TP	p.G199_splice	T	CAGACACTGGTAAATGCCTTG	NM_021801	NP_068573	5012728	Q9NRE1	MMP26_HUMAN	0		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	4	613	+	C	C		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	Splice_Site							
MMP27	0	broad.mit.edu	GRCh37	11	102573550	102573550	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01	TCGA-28-5209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260229.4:c.553C>T	p.Pro185Ser	p.P185S	ENST00000260229	NM_022122.2	185	Cct/Tct	0			1			A	P/S	uc001phd.1	protein_coding	YES	CCDS8319.1			553/1542									ovary(2)|skin(1)	3	c.(553-555)CCT>TCT			Gene3D:3.40.390.10,Pfam_domain:PF00413,PIRSF_domain:PIRSF001191,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF115,SMART_domains:SM00235,Superfamily_domains:SSF55486	matrix metalloproteinase 27 precursor				ENSP00000260229		10-Apr									COSM3397360	10-Apr	.		ENST00000260229	Transcript			collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	ENSG00000137675	g.chr11:102573550G>A	14250			MODERATE		4.01	high	getma.org/?cm=msa&ty=f&p=MMP27_HUMAN&rb=105&re=261&var=P185S	getma.org/pdb.php?prot=MMP27_HUMAN&from=105&to=261&var=P185S	getma.org/?cm=var&var=hg19,11,102573550,G,A&fts=all	P185S	--	--	1																																			1	1		probably_damaging(1)	p.P185S	NM_022122	NP_071405		deleterious(0)	1	MMP27_HUMAN	MMP27	HGNC	Q9H306	MMP27_HUMAN	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)			4	576	-	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	UPI00001AE7D3	185					SNV	MMP27,missense_variant,p.Pro185Ser,ENST00000260229,NM_022122.2;	uc001phd.1	c.553C>T	645/1913	2	2			c.553C>T						11	SNP	c.(553-555)CCT>TCT	28	28			ovary(2)|skin(1)	3	Broad	matrix metalloproteinase 27 precursor			102573550		0.458	ENSG00000137675	9486	g.chr11:102573550G>A	collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding							428.89614	KEEP	66	80	-1	68	94	66	80	-1	429.0863	68	94	0.472789	1	0	0	0	0	1	0	0	0	--	--		0	A				218	GBM-28-5209-TP	p.P185S	G	CCCGGACCAGGAGGAAAGGCA	NM_022122	NP_071405	102573550	Q9H306	MMP27_HUMAN	0	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	4	576	-	A	A	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Missense_Mutation	185						
MMP27	64066		GRCh37	11	102575419	102575419	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000260229.4:c.190C>T	p.Arg64Trp	p.R64W	ENST00000260229	NM_022122.2	64	Cgg/Tgg	0																																																																																																																																																																																																																																												
MMP3	0	broad.mit.edu	GRCh37	11	102709358	102709358	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01	TCGA-19-5958-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299855.5:c.1153G>A	p.Val385Met	p.V385M	ENST00000299855	NM_002422.3	385	Gtg/Atg	0	T:0	T:0	1	T:0		T	V/M	uc001phj.1	protein_coding	YES	CCDS8323.1			1153/1434									lung(1)|kidney(1)	2	c.(1153-1155)GTG>ATG			Gene3D:2.110.10.10,PIRSF_domain:PIRSF001191,PROSITE_profiles:PS51642,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF38,Superfamily_domains:SSF50923	matrix metalloproteinase 3 preproprotein	Marimastat(DB00786)|Simvastatin(DB00641)	T:0	T:0.0001	ENSP00000299855	T:0	10-Aug	0.000527		0.000173			0.00015		0.00315	rs202217886,COSM2156846	10-Aug	common_variant		ENST00000299855	Transcript	1	T:0.0008	collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	ENSG00000149968	g.chr11:102709358C>T	7173			MODERATE		2.72	medium	getma.org/?cm=msa&ty=f&p=MMP3_HUMAN&rb=354&re=417&var=V385M	getma.org/pdb.php?prot=MMP3_HUMAN&from=384&to=387&var=V385M	getma.org/?cm=var&var=hg19,11,102709358,C,T&fts=all	V385M	--	--	1																																			0,1	1		possibly_damaging(0.667)	p.V385M	NM_002422	NP_002413	T:0.0041	deleterious(0.02)	0,1	MMP3_HUMAN	MMP3	HGNC	P08254	MMP3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0142)			8	1218	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	UPI00000422BF	385					SNV	MMP3,missense_variant,p.Val385Met,ENST00000299855,NM_002422.3;MMP3,missense_variant,p.Val29Met,ENST00000434103,;WTAPP1,downstream_gene_variant,,ENST00000525739,;MMP3,downstream_gene_variant,,ENST00000524478,;	uc001phj.1	c.1153G>A	1410/2016	2	2			c.1153G>A						11	SNP	c.(1153-1155)GTG>ATG	31	31			lung(1)|kidney(1)	2	Broad	matrix metalloproteinase 3 preproprotein		Marimastat(DB00786)|Simvastatin(DB00641)	102709358		0.403	ENSG00000149968	9488	g.chr11:102709358C>T	collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding							124.775512	KEEP	20	23	-1	35	38	20	23	-1	126.013464	35	38	0.385321	1	0	0	0	0	1	0	0	0	--	--		0	T				176	GBM-19-5958-TP	p.V385M	C	ATTTTCCTCACGGTTGGAGGG	NM_002422	NP_002413	102709358	P08254	MMP3_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;0.0142)	8	1218	-	T	T		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Missense_Mutation	385						
MMP3	0	broad.mit.edu	GRCh37	11	102713433	102713433	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs151123532		TCGA-28-2502-01	TCGA-28-2502-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299855.5:c.320C>T	p.Pro107Leu	p.P107L	ENST00000299855	NM_002422.3	107	cCg/cTg	0	A:0.0002		1			A	P/L	uc001phj.1	protein_coding	YES	CCDS8323.1			320/1434									lung(1)|kidney(1)	2	c.(319-321)CCG>CTG			Gene3D:3.40.390.10,PIRSF_domain:PIRSF001191,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF38,SMART_domains:SM00235,Superfamily_domains:SSF55486	matrix metalloproteinase 3 preproprotein	Marimastat(DB00786)|Simvastatin(DB00641)		A:0	ENSP00000299855		10-Feb	2.47E-05	0.000288							rs151123532,COSM3397361	10-Feb	.		ENST00000299855	Transcript	1		collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	ENSG00000149968	g.chr11:102713433G>A	7173			MODERATE		1.74	low	getma.org/?cm=msa&ty=f&p=MMP3_HUMAN&rb=58&re=137&var=P107L	getma.org/pdb.php?prot=MMP3_HUMAN&from=88&to=107&var=P107L	getma.org/?cm=var&var=hg19,11,102713433,G,A&fts=all	P107L	--	--	1																																			0,1	1		benign(0.158)	p.P107L	NM_002422	NP_002413		deleterious(0.01)	0,1	MMP3_HUMAN	MMP3	HGNC	P08254	MMP3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0142)			2	385	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	UPI00000422BF	107					SNV	MMP3,missense_variant,p.Pro107Leu,ENST00000299855,NM_002422.3;MMP3,upstream_gene_variant,,ENST00000434103,;MMP3,3_prime_UTR_variant,,ENST00000524478,;	uc001phj.1	c.320C>T	577/2016	1	1			c.320C>T						11	SNP	c.(319-321)CCG>CTG	62	62			lung(1)|kidney(1)	2	Broad	matrix metalloproteinase 3 preproprotein		Marimastat(DB00786)|Simvastatin(DB00641)	102713433		0.473	ENSG00000149968	9488	g.chr11:102713433G>A	collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding							187.336037	KEEP	29	31	-1	40	45	29	31	-1	187.808528	40	45	0.43609	1	0	0	0	0	1	0	0	0	--	--		0	A				210	GBM-28-2502-TP	p.P107L	G	CCTCCACTTCGGGATGCCAGG	NM_002422	NP_002413	102713433	P08254	MMP3_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;0.0142)	2	385	-	A	A		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Missense_Mutation	107						
MMP7	0	broad.mit.edu	GRCh37	11	102395756	102395756	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260227.4:c.524C>T	p.Thr175Met	p.T175M	ENST00000260227	NM_002423.3	175	aCg/aTg	0		A:0	1	A:0		A	T/M	uc001phb.2	protein_coding	YES	CCDS8317.1			524/804									ovary(1)	1	c.(523-525)ACG>ATG			Gene3D:3.40.390.10,Pfam_domain:PF00413,Prints_domain:PR00138,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF128,SMART_domains:SM00235,Superfamily_domains:SSF55486	matrix metalloproteinase 7 preproprotein		A:0.001		ENSP00000260227	A:0	6-Apr	6.59E-05			0.000231	0.000151	6.00E-05		6.06E-05	rs542899524,COSM3397356	6-Apr	.		ENST00000260227	Transcript		A:0.0002	collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000137673	g.chr11:102395756G>A	7174			MODERATE		3.33	medium	getma.org/?cm=msa&ty=f&p=MMP7_HUMAN&rb=103&re=259&var=T175M	getma.org/pdb.php?prot=MMP7_HUMAN&from=103&to=259&var=T175M	getma.org/?cm=var&var=hg19,11,102395756,G,A&fts=all	T175M	--	--	1																																		MMP7_uc009yxd.2_Missense_Mutation_p.T175M	0,1	1		probably_damaging(0.96)	p.T175M	NM_002423	NP_002414	A:0	deleterious(0.01)	0,1	MMP7_HUMAN	MMP7	HGNC	P09237	MMP7_HUMAN	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	A5GZ72_HUMAN		4	571	-	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	UPI00000422BD	175				Calcium 2; via carbonyl oxygen.	SNV	MMP7,missense_variant,p.Thr175Met,ENST00000260227,NM_002423.3;MMP7,non_coding_transcript_exon_variant,,ENST00000533366,;MMP7,downstream_gene_variant,,ENST00000531200,;	uc001phb.2	c.524C>T	577/1125	2	2			c.524C>T						11	SNP	c.(523-525)ACG>ATG	35	35			ovary(1)	1	Broad	matrix metalloproteinase 7 preproprotein			102395756		0.478	ENSG00000137673	9489	g.chr11:102395756G>A	collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding							-8.363269	KEEP	3	1	-1	43	46	3	1	-1	7.709807	43	46	0.052632	1	0	0	0	0	1	0	0	0	--	--		0	A			MMP7_uc009yxd.2_Missense_Mutation_p.T175M	160	GBM-19-1790-TP	p.T175M	G	ATGAGCCAGCGTGTTTCCTGG	NM_002423	NP_002414	102395756	P09237	MMP7_HUMAN	0	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	4	571	-	A	A	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Missense_Mutation	175				Calcium 2; via carbonyl oxygen.		
MMP9	0	broad.mit.edu	GRCh37	20	44641083	44641083	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1835-01	TCGA-27-1835-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372330.3:c.1192G>A	p.Val398Met	p.V398M	ENST00000372330	NM_004994.2	398	Gtg/Atg	0			1			A	V/M	uc002xqz.2	protein_coding	YES	CCDS13390.1			1192/2124									ovary(1)|pancreas(1)	2	c.(1192-1194)GTG>ATG			Gene3D:3.40.390.10,Pfam_domain:PF00413,Prints_domain:PR00138,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF30,SMART_domains:SM00235,Superfamily_domains:SSF55486	matrix metalloproteinase 9 preproprotein	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)			ENSP00000361405		13-Aug									COSM2157271	13-Aug	.		ENST00000372330	Transcript	1		collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	ENSG00000100985	g.chr20:44641083G>A	7176			MODERATE		3.73	high	getma.org/?cm=msa&ty=f&p=MMP9_HUMAN&rb=115&re=444&var=V398M	getma.org/pdb.php?prot=MMP9_HUMAN&from=115&to=444&var=V398M	getma.org/?cm=var&var=hg19,20,44641083,G,A&fts=all	V398M	--	--	1																																			1	1		probably_damaging(0.999)	p.V398M	NM_004994	NP_004985		deleterious(0)	1	MMP9_HUMAN	MMP9	HGNC	P14780	MMP9_HUMAN					8	1211	+		Myeloproliferative disorder(115;0.0122)	UPI000013C712	398					SNV	MMP9,missense_variant,p.Val398Met,ENST00000372330,NM_004994.2;RP11-465L10.10,downstream_gene_variant,,ENST00000535913,;AL162458.1,upstream_gene_variant,,ENST00000366171,;	uc002xqz.2	c.1192G>A	1211/2336	1	1			c.1192G>A						20	SNP	c.(1192-1194)GTG>ATG	59	59			ovary(1)|pancreas(1)	2	Broad	matrix metalloproteinase 9 preproprotein		Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	44641083		0.662	ENSG00000100985	9491	g.chr20:44641083G>A	collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			462			462	83.382165	KEEP	26	19	-1	46	61	26	19	-1	88.932752	46	61	0.271186	1	0	0	0	0	1	0	0	0	--	--		0	A				194	GBM-27-1835-TP	p.V398M	G	TTTGTTCCTCGTGGCGGCGCA	NM_004994	NP_004985	44641083	P14780	MMP9_HUMAN	0			8	1211	+	A	A		Myeloproliferative disorder(115;0.0122)	Missense_Mutation	398						
MMP9	0	broad.mit.edu	GRCh37	20	44639814	44639814	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5216-01	TCGA-28-5216-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372330.3:c.682G>A	p.Ala228Thr	p.A228T	ENST00000372330	NM_004994.2	228	Gcg/Acg	0			1			A	A/T	uc002xqz.2	protein_coding	YES	CCDS13390.1			682/2124								p.A228A(1)	ovary(1)|pancreas(1)	2	c.(682-684)GCG>ACG			Gene3D:2.10.10.10,Pfam_domain:PF00413,PROSITE_profiles:PS51092,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF30,SMART_domains:SM00059,SMART_domains:SM00235,Superfamily_domains:SSF57440	matrix metalloproteinase 9 preproprotein	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)			ENSP00000361405		13-May									COSM3405156	13-May	.		ENST00000372330	Transcript	1		collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	ENSG00000100985	g.chr20:44639814G>A	7176			MODERATE		2.77	medium	getma.org/?cm=msa&ty=f&p=MMP9_HUMAN&rb=115&re=444&var=A228T	getma.org/pdb.php?prot=MMP9_HUMAN&from=115&to=444&var=A228T	getma.org/?cm=var&var=hg19,20,44639814,G,A&fts=all	A228T	--	--	1																																			1	1		benign(0.014)	p.A228T	NM_004994	NP_004985		deleterious(0.04)	1	MMP9_HUMAN	MMP9	HGNC	P14780	MMP9_HUMAN					5	701	+		Myeloproliferative disorder(115;0.0122)	UPI000013C712	228			Fibronectin type-II 1.		SNV	MMP9,missense_variant,p.Ala228Thr,ENST00000372330,NM_004994.2;RP11-465L10.10,downstream_gene_variant,,ENST00000535913,;AL162458.1,upstream_gene_variant,,ENST00000366171,;	uc002xqz.2	c.682G>A	701/2336	2	2			c.682G>A						20	SNP	c.(682-684)GCG>ACG	28	28		p.A228A(1)	ovary(1)|pancreas(1)	2	Broad	matrix metalloproteinase 9 preproprotein		Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	44639814		0.637	ENSG00000100985	9491	g.chr20:44639814G>A	collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			462			462	484.219028	KEEP	102	109	-1	82	72	102	109	-1	489.173915	82	72	0.644444	1	0	0	0	0	1	0	0	0	--	--		0	A				223	GBM-28-5216-TP	p.A228T	G	CGCAGATGGCGCGGCCTGCCA	NM_004994	NP_004985	44639814	P14780	MMP9_HUMAN	0			5	701	+	A	A		Myeloproliferative disorder(115;0.0122)	Missense_Mutation	228			Fibronectin type-II 1.			
MMP9	4318		GRCh37	20	44639885	44639885	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000372330.3:c.753C>T	p.Asp251=	p.D251=	ENST00000372330	NM_004994.2	251	gaC/gaT	0																																																																																																																																																																																																																																												
MMRN1	0	broad.mit.edu	GRCh37	4	90857233	90857233	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-28-5208-01	TCGA-28-5208-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264790.2:c.2402A>C	p.Gln801Pro	p.Q801P	ENST00000264790	NM_007351.2	801	cAa/cCa	0			1			C	Q/P	uc003hst.2	protein_coding		CCDS3635.1			2402/3687									ovary(4)	4	c.(2401-2403)CAA>CCA			hmmpanther:PTHR15427:SF3,hmmpanther:PTHR15427	multimerin 1				ENSP00000264790		8-Jun									COSM3409616	8-Jun	.		ENST00000264790	Transcript			cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		ENSG00000138722	g.chr4:90857233A>C	7178			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=MMRN1_HUMAN&rb=380&re=944&var=Q801P	NA	getma.org/?cm=var&var=hg19,4,90857233,A,C&fts=all	Q801P	--	--	1																																		MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.Q543P	1			possibly_damaging(0.719)	p.Q801P	NM_007351	NP_031377		tolerated(0.05)	1	MMRN1_HUMAN	MMRN1	HGNC	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	E7EPG1_HUMAN		6	2473	+		Hepatocellular(203;0.114)	UPI000013D570	801					SNV	MMRN1,missense_variant,p.Gln801Pro,ENST00000394980,;MMRN1,missense_variant,p.Gln801Pro,ENST00000264790,NM_007351.2;MMRN1,missense_variant,p.Gln543Pro,ENST00000508372,;MMRN1,intron_variant,,ENST00000394981,;	uc003hst.2	c.2402A>C	2473/4967	3	3			c.2402A>C						4	SNP	c.(2401-2403)CAA>CCA	53	53			ovary(4)	4	Broad	multimerin 1			90857233		0.378	ENSG00000138722	9492	g.chr4:90857233A>C	cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen								252.44746	KEEP	37	40	-1	41	63	37	40	-1	253.837872	41	63	0.403509	1	0	0	0	0	1	0	0	0	--	--		0	C			MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.Q543P	217	GBM-28-5208-TP	p.Q801P	A	TTTGTTTTGCAAGTCGCCAAG	NM_007351	NP_031377	90857233	Q13201	MMRN1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	6	2473	+	C	C		Hepatocellular(203;0.114)	Missense_Mutation	801						
MMRN1	0	broad.mit.edu	GRCh37	4	90874400	90874400	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-1982-01	TCGA-32-1982-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264790.2:c.3518A>G	p.Glu1173Gly	p.E1173G	ENST00000264790	NM_007351.2	1173	gAg/gGg	0			1			G	E/G	uc003hst.2	protein_coding		CCDS3635.1			3518/3687									ovary(4)	4	c.(3517-3519)GAG>GGG			PROSITE_profiles:PS50871,hmmpanther:PTHR15427:SF3,hmmpanther:PTHR15427,Pfam_domain:PF00386,Gene3D:2.60.120.40,SMART_domains:SM00110,Superfamily_domains:SSF49842	multimerin 1				ENSP00000264790		8-Aug									COSM3409618	8-Aug	.		ENST00000264790	Transcript			cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		ENSG00000138722	g.chr4:90874400A>G	7178			MODERATE		0.455	neutral	getma.org/?cm=msa&ty=f&p=MMRN1_HUMAN&rb=1102&re=1225&var=E1173G	getma.org/pdb.php?prot=MMRN1_HUMAN&from=1102&to=1225&var=E1173G	getma.org/?cm=var&var=hg19,4,90874400,A,G&fts=all	E1173G	--	--	1																																		MMRN1_uc010iku.2_Missense_Mutation_p.E476G|MMRN1_uc011cds.1_Missense_Mutation_p.E915G	1			probably_damaging(1)	p.E1173G	NM_007351	NP_031377		deleterious(0)	1	MMRN1_HUMAN	MMRN1	HGNC	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	E7EPG1_HUMAN		8	3589	+		Hepatocellular(203;0.114)	UPI000013D570	1173			C1q.		SNV	MMRN1,missense_variant,p.Glu1173Gly,ENST00000394980,;MMRN1,missense_variant,p.Glu1173Gly,ENST00000264790,NM_007351.2;MMRN1,missense_variant,p.Glu915Gly,ENST00000508372,;MMRN1,missense_variant,p.Glu476Gly,ENST00000394981,;MMRN1,non_coding_transcript_exon_variant,,ENST00000506328,;	uc003hst.2	c.3518A>G	3589/4967	3	3			c.3518A>G						4	SNP	c.(3517-3519)GAG>GGG	2	2			ovary(4)	4	Broad	multimerin 1			90874400		0.368	ENSG00000138722	9492	g.chr4:90874400A>G	cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen								-34.390297	KEEP	3	0	-1	68	92	3	0	-1	6.388977	68	92	0.019108	1	0	0	0	0	1	0	0	0	--	--		0	G			MMRN1_uc010iku.2_Missense_Mutation_p.E476G|MMRN1_uc011cds.1_Missense_Mutation_p.E915G	232	GBM-32-1982-TP	p.E1173G	A	CTTGCATTTGAGTCTGAAAAT	NM_007351	NP_031377	90874400	Q13201	MMRN1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	8	3589	+	G	G		Hepatocellular(203;0.114)	Missense_Mutation	1173			C1q.			
MMRN1	0	broad.mit.edu	GRCh37	4	90874191	90874191	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-41-3393-01	TCGA-41-3393-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264790.2:c.3309T>G	p.Phe1103Leu	p.F1103L	ENST00000264790	NM_007351.2	1103	ttT/ttG	0			1			G	F/L	uc003hst.2	protein_coding		CCDS3635.1			3309/3687									ovary(4)	4	c.(3307-3309)TTT>TTG			PROSITE_profiles:PS50871,hmmpanther:PTHR15427:SF3,hmmpanther:PTHR15427,Pfam_domain:PF00386,Gene3D:2.60.120.40,SMART_domains:SM00110,Superfamily_domains:SSF49842	multimerin 1				ENSP00000264790		8-Aug									COSM3409617	8-Aug	.		ENST00000264790	Transcript			cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		ENSG00000138722	g.chr4:90874191T>G	7178			MODERATE		2.52	medium	getma.org/?cm=msa&ty=f&p=MMRN1_HUMAN&rb=1102&re=1225&var=F1103L	getma.org/pdb.php?prot=MMRN1_HUMAN&from=1102&to=1225&var=F1103L	getma.org/?cm=var&var=hg19,4,90874191,T,G&fts=all	F1103L	--	--	1																																		MMRN1_uc010iku.2_Missense_Mutation_p.F406L|MMRN1_uc011cds.1_Missense_Mutation_p.F845L	1			probably_damaging(0.999)	p.F1103L	NM_007351	NP_031377		deleterious(0)	1	MMRN1_HUMAN	MMRN1	HGNC	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	E7EPG1_HUMAN		8	3380	+		Hepatocellular(203;0.114)	UPI000013D570	1103			C1q.		SNV	MMRN1,missense_variant,p.Phe1103Leu,ENST00000394980,;MMRN1,missense_variant,p.Phe1103Leu,ENST00000264790,NM_007351.2;MMRN1,missense_variant,p.Phe845Leu,ENST00000508372,;MMRN1,missense_variant,p.Phe406Leu,ENST00000394981,;MMRN1,non_coding_transcript_exon_variant,,ENST00000506328,;	uc003hst.2	c.3309T>G	3380/4967	3	3			c.3309T>G						4	SNP	c.(3307-3309)TTT>TTG	2	2			ovary(4)	4	Broad	multimerin 1			90874191		0.338	ENSG00000138722	9492	g.chr4:90874191T>G	cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen								302.985317	KEEP	51	56	-1	118	95	51	56	-1	310.970181	118	95	0.320144	1	0	0	0	0	1	0	0	0	--	--		0	G			MMRN1_uc010iku.2_Missense_Mutation_p.F406L|MMRN1_uc011cds.1_Missense_Mutation_p.F845L	255	GBM-41-3393-TP	p.F1103L	T	TGGTGGCATTTTTTGCATCTC	NM_007351	NP_031377	90874191	Q13201	MMRN1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	8	3380	+	G	G		Hepatocellular(203;0.114)	Missense_Mutation	1103			C1q.			
MMRN2	0	broad.mit.edu	GRCh37	10	88703548	88703548	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372027.5:c.993C>T	p.Ala331=	p.A331=	ENST00000372027	NM_024756.2	331	gcC/gcT	0			1			A	A	uc001kea.2	protein_coding	YES	CCDS7379.1			993/2850									large_intestine(1)	1	c.(991-993)GCC>GCT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF6	multimerin 2 precursor				ENSP00000361097		7-Jun	1.65E-05					3.02E-05			rs200423909,COSM2157458	7-Jun	.		ENST00000372027	Transcript				extracellular space		ENSG00000173269	g.chr10:88703548G>A	19888			LOW								--	--	1																																		MMRN2_uc010qmn.1_Intron|MMRN2_uc009xtb.2_Silent_p.A288A	0,1	1			p.A331A	NM_024756	NP_079032			0,1	MMRN2_HUMAN	MMRN2	HGNC	Q9H8L6	MMRN2_HUMAN			R4GMY6_HUMAN		6	1120	-			UPI000013F046	331			Potential.		SNV	MMRN2,synonymous_variant,p.=,ENST00000372027,NM_024756.2;MMRN2,downstream_gene_variant,,ENST00000610081,;MMRN2,downstream_gene_variant,,ENST00000609457,;MMRN2,downstream_gene_variant,,ENST00000474994,;MMRN2,downstream_gene_variant,,ENST00000488950,;MMRN2,downstream_gene_variant,,ENST00000608090,;MMRN2,downstream_gene_variant,,ENST00000608753,;	uc001kea.2	c.993C>T	1315/4375	2	2			c.993C>T						10	SNP	c.(991-993)GCC>GCT	38	38			large_intestine(1)	1	Broad	multimerin 2 precursor			88703548		0.622	ENSG00000173269	9493	g.chr10:88703548G>A		extracellular space								234.705534	KEEP	41	35	-1	3	7	41	35	-1	246.66263	3	7	0.90411	1	0	0	0	0	0	0	1	0	--	--		0	A			MMRN2_uc010qmn.1_Intron|MMRN2_uc009xtb.2_Silent_p.A288A	265	GBM-76-4925-TP	p.A331A	G	TGTCCACATCGGCTTGGAGCT	NM_024756	NP_079032	88703548	Q9H8L6	MMRN2_HUMAN	0			6	1120	-	A	A			Silent	331			Potential.			
MMS22L	253714	broad.mit.edu	GRCh37	6	97702431	97702431	+	splice_donor_variant	Splice_Site	SNP	A	A	C			TCGA-06-0219-01	TCGA-06-0219-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275053.4:c.1119+2T>G		p.X373_splice	ENST00000275053	NM_198468.2	373		0			1			C		uc003ppb.2	protein_coding	YES	CCDS5039.1			1119/3732										0	c.e10+1				hypothetical protein LOC253714				ENSP00000275053											COSM3411347		.		ENST00000275053	Transcript			double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	ENSG00000146263	g.chr6:97702431A>C	21475			HIGH	24-Oct							--	--	1																																		C6orf167_uc011eaf.1_Splice_Site_p.M373_splice|C6orf167_uc010kcn.1_Splice_Site_p.M147_splice|C6orf167_uc010kco.1_Splice_Site_p.M109_splice|C6orf167_uc003ppc.2_Missense_Mutation_p.V374G	1	1			p.M373_splice	NM_198468	NP_940870			1	MMS22_HUMAN	MMS22L	HGNC	Q6ZRQ5	MMS22_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0457)	H9KVD8_HUMAN		10	1385	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)	UPI00003673C9						SNV	MMS22L,splice_donor_variant,,ENST00000275053,NM_198468.2;MMS22L,splice_donor_variant,,ENST00000369251,;MMS22L,splice_donor_variant,,ENST00000510018,;MMS22L,splice_donor_variant,,ENST00000482634,;MMS22L,downstream_gene_variant,,ENST00000506256,;MMS22L,splice_donor_variant,,ENST00000509383,;MMS22L,non_coding_transcript_exon_variant,,ENST00000508976,;MMS22L,downstream_gene_variant,,ENST00000511335,;	uc003ppb.2	c.1119_splice	-/8643	5	3			c.1119_splice						6	SNP	c.e10+1	9	9				0	Broad	hypothetical protein LOC253714			97702431		0.313	ENSG00000146263	2294	g.chr6:97702431A>C	double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding							46.593162	KEEP	11	6	-1	32	25	11	6	-1	50.212821	32	25	0.25	1	0	0	0	0	0	0	0	1	--	--		0	C			C6orf167_uc011eaf.1_Splice_Site_p.M373_splice|C6orf167_uc010kcn.1_Splice_Site_p.M147_splice|C6orf167_uc010kco.1_Splice_Site_p.M109_splice|C6orf167_uc003ppc.2_Missense_Mutation_p.V374G	52	GBM-06-0219-TP	p.M373_splice	A	ATGAAGTCTTACCATTTCATC	NM_198468	NP_940870	97702431	Q6ZRQ5	MMS22_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.0457)	10	1385	-	C	C		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)	Splice_Site							
MN1	4330		GRCh37	22	28193444	28193444	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000302326.4:c.3088G>A	p.Gly1030Ser	p.G1030S	ENST00000302326	NM_002430.2	1030	Ggc/Agc	0																																																																																																																																																																																																																																												
MNDA	0	broad.mit.edu	GRCh37	1	158815528	158815528	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6192-01	TCGA-76-6192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368141.4:c.722C>A	p.Ala241Asp	p.A241D	ENST00000368141	NM_002432.1	241	gCc/gAc	0			1			A	A/D	uc001fsz.1	protein_coding	YES	CCDS1177.1			722/1224									ovary(2)|skin(2)	4	c.(721-723)GCC>GAC			Gene3D:2.40.50.140,Pfam_domain:PF02760,PROSITE_profiles:PS50834,hmmpanther:PTHR12200,hmmpanther:PTHR12200:SF18,Superfamily_domains:SSF159141	myeloid cell nuclear differentiation antigen				ENSP00000357123		7-May									COSM3399861	7-May	.		ENST00000368141	Transcript			B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	ENSG00000163563	g.chr1:158815528C>A	7183			MODERATE		2.505	medium	getma.org/?cm=msa&ty=f&p=MNDA_HUMAN&rb=208&re=375&var=A241D	getma.org/pdb.php?prot=MNDA_HUMAN&from=208&to=375&var=A241D	getma.org/?cm=var&var=hg19,1,158815528,C,A&fts=all	A241D	--	--	1																																			1	1		probably_damaging(0.989)	p.A241D	NM_002432	NP_002423		deleterious(0)	1	MNDA_HUMAN	MNDA	HGNC	P41218	MNDA_HUMAN			Q5VUU6_HUMAN		5	922	+	all_hematologic(112;0.0378)		UPI0000001609	241			HIN-200.		SNV	MNDA,missense_variant,p.Ala241Asp,ENST00000368141,NM_002432.1;MNDA,upstream_gene_variant,,ENST00000438394,;MNDA,downstream_gene_variant,,ENST00000491210,;	uc001fsz.1	c.722C>A	983/1752	1	1			c.722C>A						1	SNP	c.(721-723)GCC>GAC	52	52			ovary(2)|skin(2)	4	Broad	myeloid cell nuclear differentiation antigen			158815528		0.403	ENSG00000163563	9498	g.chr1:158815528C>A	B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding							29.67353	KEEP	7	6	0.461538462	17	24	7	6	0.461538462	32.942108	17	24	0.235294	1	0	0	0	0	1	0	0	0	--	--		0	A				275	GBM-76-6192-TP	p.A241D	C	GCTACAGTGGCCAGTAAGACT	NM_002432	NP_002423	158815528	P41218	MNDA_HUMAN	0			5	922	+	A	A	all_hematologic(112;0.0378)		Missense_Mutation	241			HIN-200.			
MNS1	55329		GRCh37	15	56735891	56735893	+	inframe_deletion	In_Frame_Del	DEL	TCT	TCT	-			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000260453.3:c.846_848del	p.Glu282del	p.E282del	ENST00000260453	NM_018365.2	282	gaAGAt/gat	0																																																																																																																																																																																																																																												
MNS1	55329		GRCh37	15	56736021	56736021	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000260453.3:c.718G>C	p.Ala240Pro	p.A240P	ENST00000260453	NM_018365.2	240	Gca/Cca	0																																																																																																																																																																																																																																												
MNT	0	broad.mit.edu	GRCh37	17	2290511	2290511	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-2571-01	TCGA-41-2571-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000174618.4:c.1433C>T	p.Ala478Val	p.A478V	ENST00000174618	NM_020310.2	478	gCg/gTg	0			1			A	A/V	uc002fur.2	protein_coding	YES	CCDS11018.1			1433/1749									skin(1)	1	c.(1432-1434)GCG>GTG			Low_complexity_(Seg):seg,hmmpanther:PTHR11969:SF15,hmmpanther:PTHR11969	MAX binding protein				ENSP00000174618		6-Jun									COSM3402676	6-Jun	.		ENST00000174618	Transcript			multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	ENSG00000070444	g.chr17:2290511G>A	7188			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=MNT_HUMAN&rb=473&re=582&var=A478V	NA	getma.org/?cm=var&var=hg19,17,2290511,G,A&fts=all	A478V	--	--	1																																			1	1		unknown(0)	p.A478V	NM_020310	NP_064706		tolerated(0.12)	1	MNT_HUMAN	MNT	HGNC	Q99583	MNT_HUMAN		Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)	K7ES66_HUMAN		6	1685	-			UPI000012F2C6	478					SNV	MNT,missense_variant,p.Ala478Val,ENST00000174618,NM_020310.2;MNT,downstream_gene_variant,,ENST00000575394,;RP1-59D14.1,downstream_gene_variant,,ENST00000571775,;MNT,downstream_gene_variant,,ENST00000575374,;MNT,downstream_gene_variant,,ENST00000572892,;MNT,downstream_gene_variant,,ENST00000571232,;MNT,downstream_gene_variant,,ENST00000575402,;MNT,downstream_gene_variant,,ENST00000573384,;	uc002fur.2	c.1433C>T	1839/4996	1	1			c.1433C>T						17	SNP	c.(1432-1434)GCG>GTG	54	54			skin(1)	1	Broad	MAX binding protein			2290511		0.667	ENSG00000070444	9500	g.chr17:2290511G>A	multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity							9.124593	KEEP	2	1	-1	3	2	2	1	-1	9.124593	3	2	0.5	1	0	0	0	0	1	0	0	0	--	--		0	A				250	GBM-41-2571-TP	p.A478V	G	CAGTTGCACCGCAGGGCTGGG	NM_020310	NP_064706	2290511	Q99583	MNT_HUMAN	0		Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)	6	1685	-	A	A			Missense_Mutation	478						
MOAP1	0	broad.mit.edu	GRCh37	14	93650454	93650454	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4929-01	TCGA-76-4929-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298894.4:c.134C>T	p.Pro45Leu	p.P45L	ENST00000298894	NM_022151.4	45	cCc/cTc	0			1			A	P/L	uc001ybj.2	protein_coding		CCDS9908.1			134/1056									skin(2)|ovary(1)	3	c.(133-135)CCC>CTC			Pfam_domain:PF14893,hmmpanther:PTHR23095,hmmpanther:PTHR23095:SF14	modulator of apoptosis 1				ENSP00000298894		3-Mar									COSM3401527	3-Mar	.		ENST00000298894	Transcript			activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity	ENSG00000165943	g.chr14:93650454G>A	16658			MODERATE		2.16	medium	getma.org/?cm=msa&ty=f&p=MOAP1_HUMAN&rb=40&re=153&var=P45L	NA	getma.org/?cm=var&var=hg19,14,93650454,G,A&fts=all	P45L	--	--	1																																		C14orf109_uc001ybk.3_5'Flank|C14orf109_uc010auo.2_5'Flank	1			benign(0.132)	p.P45L	NM_022151	NP_071434		tolerated(0.11)	1	MOAP1_HUMAN	MOAP1	HGNC	Q96BY2	MOAP1_HUMAN		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)			3	504	-		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)	UPI0000037797	45					SNV	MOAP1,missense_variant,p.Pro45Leu,ENST00000556883,;MOAP1,missense_variant,p.Pro45Leu,ENST00000298894,NM_022151.4;TMEM251,upstream_gene_variant,,ENST00000415050,NM_001098621.1;TMEM251,upstream_gene_variant,,ENST00000283534,NM_015676.1;RP11-371E8.4,upstream_gene_variant,,ENST00000557574,;RP11-371E8.4,upstream_gene_variant,,ENST00000557048,;RP11-371E8.4,upstream_gene_variant,,ENST00000554824,;	uc001ybj.2	c.134C>T	528/2441	2	2			c.134C>T						14	SNP	c.(133-135)CCC>CTC	28	28			skin(2)|ovary(1)	3	Broad	modulator of apoptosis 1			93650454		0	ENSG00000165943	9502	g.chr14:93650454G>A	activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity							435.483967	KEEP	83	59	-1	14	21	83	59	-1	449.69485	14	21	0.810127	1	0	0	0	0	1	0	0	0	--	--		0	A			C14orf109_uc001ybk.3_5'Flank|C14orf109_uc010auo.2_5'Flank	269	GBM-76-4929-TP	p.P45L	G	ctcccccaagggagctaaacc	NM_022151	NP_071434	93650454	Q96BY2	MOAP1_HUMAN	0		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)	3	504	-	A	A		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)	Missense_Mutation	45						
MOB1B	0	broad.mit.edu	GRCh37	4	71847741	71847741	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-14-0813-01	TCGA-14-0813-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309395.2:c.618A>G	p.Glu206=	p.E206=	ENST00000309395	NM_173468.3	206	gaA/gaG	0		G:0	1	G:0		G	E	uc003hfw.2	protein_coding		CCDS34002.1			618/651										0	c.(616-618)GAA>GAG			Superfamily_domains:0049093,Gene3D:1pi1A00,hmmpanther:PTHR22599,hmmpanther:PTHR22599:SF13	MOB1, Mps One Binder kinase activator-like 1A		G:0		ENSP00000310189	G:0.001	6-Jun	8.24E-06					1.51E-05			rs553172790,COSM2154691	6-Jun	.		ENST00000309395	Transcript		G:0.0002	hippo signaling cascade|protein autophosphorylation	cytoplasm|nucleus	kinase activator activity|kinase binding|metal ion binding	ENSG00000173542	g.chr4:71847741A>G	29801			LOW								--	--	1																																		MOBKL1A_uc011cba.1_Silent_p.E211E	0,1				p.E206E	NM_173468	NP_775739	G:0		0,1	MOB1B_HUMAN	MOB1B	HGNC	Q7L9L4	MOL1A_HUMAN	Lung(101;0.235)		Q4W5E0_HUMAN		6	808	+		all_hematologic(202;0.21)	UPI00000742E9	206					SNV	MOB1B,synonymous_variant,p.=,ENST00000309395,NM_173468.3,NM_001244766.1;MOB1B,synonymous_variant,p.=,ENST00000396051,;MOB1B,intron_variant,,ENST00000511449,;	uc003hfw.2	c.618A>G	819/6963	3	3			c.618A>G						4	SNP	c.(616-618)GAA>GAG	64	64				0	Broad	MOB1, Mps One Binder kinase activator-like 1A			71847741		0.353	ENSG00000173542	9504	g.chr4:71847741A>G	hippo signaling cascade|protein autophosphorylation	cytoplasm|nucleus	kinase activator activity|kinase binding|metal ion binding							83.690078	KEEP	16	11	-1	18	24	16	11	-1	84.295511	18	24	0.393443	1	0	0	0	0	0	0	1	0	--	--		0	G			MOBKL1A_uc011cba.1_Silent_p.E211E	138	GBM-14-0813-TP	p.E206E	A	CACTCCAAGAACTGATTGAAA	NM_173468	NP_775739	71847741	Q7L9L4	MOL1A_HUMAN	0	Lung(101;0.235)		6	808	+	G	G		all_hematologic(202;0.21)	Silent	206						
MOB3B	0	broad.mit.edu	GRCh37	9	27455216	27455216	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5950-01	TCGA-19-5950-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262244.5:c.333G>A	p.Ala111=	p.A111=	ENST00000262244	NM_024761.4	111	gcG/gcA	0			1			T	A	uc003zqn.2	protein_coding	YES	CCDS6520.1			333/651									ovary(1)|pleura(1)	2	c.(331-333)GCG>GCA			Superfamily_domains:0049093,Gene3D:1pi1A00,Pfam_domain:PF03637,hmmpanther:PTHR22599,hmmpanther:PTHR22599:SF22	MOB1, Mps One Binder kinase activator-like 2B				ENSP00000262244		4-Feb	1.65E-05			0.000116				6.06E-05	rs753880222,COSM2156531	4-Feb	.		ENST00000262244	Transcript					metal ion binding|protein binding	ENSG00000120162	g.chr9:27455216C>T	23825			LOW								--	--	1																																			0,1	1			p.A111A	NM_024761	NP_079037			0,1	MOB3B_HUMAN	MOB3B	HGNC	Q86TA1	MOL2B_HUMAN		Lung(218;6.54e-05)|LUSC - Lung squamous cell carcinoma(38;0.000397)			2	829	-		all_neural(11;9.12e-11)	UPI0000047ACB	111					SNV	MOB3B,synonymous_variant,p.=,ENST00000262244,NM_024761.4;	uc003zqn.2	c.333G>A	758/6454	1	1			c.333G>A						9	SNP	c.(331-333)GCG>GCA	7	7			ovary(1)|pleura(1)	2	Broad	MOB1, Mps One Binder kinase activator-like 2B			27455216		0.488	ENSG00000120162	9507	g.chr9:27455216C>T			metal ion binding|protein binding							123.384364	KEEP	18	20	-1	8	6	18	20	-1	125.932465	8	6	0.730769	1	0	0	0	0	0	0	1	0	--	--		0	T				170	GBM-19-5950-TP	p.A111A	C	GAGCTGGCAGCGCTGTTGGCT	NM_024761	NP_079037	27455216	Q86TA1	MOL2B_HUMAN	0		Lung(218;6.54e-05)|LUSC - Lung squamous cell carcinoma(38;0.000397)	2	829	-	T	T		all_neural(11;9.12e-11)	Silent	111						
MOB3C	0	broad.mit.edu	GRCh37	1	47078629	47078629	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-5213-01	TCGA-28-5213-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319928.3:c.365T>C	p.Met122Thr	p.M122T	ENST00000319928	NM_201403.2	122	aTg/aCg	0			1			G	M/T	uc001cqf.3	protein_coding		CCDS540.1			365/651									pancreas(1)	1	c.(364-366)ATG>ACG			Superfamily_domains:0049093,Gene3D:1pi1A00,Pfam_domain:PF03637,hmmpanther:PTHR22599,hmmpanther:PTHR22599:SF12	MOB1, Mps One Binder kinase activator-like 2C				ENSP00000315113		4-Feb									COSM3400849,COSM3400848	4-Feb	.		ENST00000319928	Transcript					metal ion binding	ENSG00000142961	g.chr1:47078629A>G	29800			MODERATE		3.325	medium	getma.org/?cm=msa&ty=f&p=MOB3C_HUMAN&rb=1&re=200&var=M122T	getma.org/pdb.php?prot=MOB3C_HUMAN&from=1&to=200&var=M122T	getma.org/?cm=var&var=hg19,1,47078629,A,G&fts=all	M122T	--	--	1																																		MKNK1_uc010omf.1_Intron|MOBKL2C_uc001cqe.3_Missense_Mutation_p.M174T	1,1			probably_damaging(0.997)	p.M122T	NM_201403	NP_958805		deleterious(0)	1,1	MOB3C_HUMAN	MOB3C	HGNC	Q70IA8	MOL2C_HUMAN					2	596	-	Acute lymphoblastic leukemia(166;0.155)		UPI000013D8C3	122					SNV	MOB3C,missense_variant,p.Met145Thr,ENST00000371940,;MOB3C,missense_variant,p.Met122Thr,ENST00000319928,NM_201403.2;MOB3C,missense_variant,p.Met174Thr,ENST00000271139,NM_145279.4;MKNK1,intron_variant,,ENST00000545730,;MKNK1,intron_variant,,ENST00000531769,;MOB3C,non_coding_transcript_exon_variant,,ENST00000477318,;	uc001cqf.3	c.365T>C	596/2822	4	4			c.365T>C						1	SNP	c.(364-366)ATG>ACG	28	28			pancreas(1)	1	Broad	MOB1, Mps One Binder kinase activator-like 2C			47078629		0.637	ENSG00000142961	9508	g.chr1:47078629A>G			metal ion binding							37.5908	KEEP	6	13	-1	45	48	6	13	-1	48.521446	45	48	0.169811	1	0	0	0	0	1	0	0	0	--	--		0	G			MKNK1_uc010omf.1_Intron|MOBKL2C_uc001cqe.3_Missense_Mutation_p.M174T	220	GBM-28-5213-TP	p.M122T	A	GATCCAGTCCATGAGCAATGC	NM_201403	NP_958805	47078629	Q70IA8	MOL2C_HUMAN	0			2	596	-	G	G	Acute lymphoblastic leukemia(166;0.155)		Missense_Mutation	122						
MOCS1	0	broad.mit.edu	GRCh37	6	39877612	39877612	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340692.5:c.1069G>A	p.Ala357Thr	p.A357T	ENST00000340692		357	Gct/Act	0			1			T	A/T	uc003opb.2	protein_coding					1069/1911								p.A357V(1)	ovary(1)|liver(1)|central_nervous_system(1)	3	c.(1069-1071)GCT>ACT			Gene3D:3.20.20.70,TIGRFAM_domain:TIGR02666,Pfam_domain:PF06463,hmmpanther:PTHR22960:SF0,hmmpanther:PTHR22960,HAMAP:MF_01225_B	molybdenum cofactor synthesis-step 1 protein				ENSP00000344794		11-Sep									COSM3411084,COSM3411085	11-Sep	.		ENST00000340692	Transcript	1		Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	ENSG00000124615	g.chr6:39877612C>T	7190			MODERATE		2.22	medium	getma.org/?cm=msa&ty=f&p=MOCS1_HUMAN&rb=241&re=368&var=A357T	NA	getma.org/?cm=var&var=hg19,6,39877612,C,T&fts=all	A357T	--	--	1																																		MOCS1_uc003opa.2_Missense_Mutation_p.A357T|MOCS1_uc003opc.2_Missense_Mutation_p.A357T|MOCS1_uc003opd.2_Missense_Mutation_p.A357T|MOCS1_uc003ope.2_Missense_Mutation_p.A270T	1,1			probably_damaging(0.948)	p.A357T	NM_005942	NP_005933		tolerated(0.12)	1,1	MOCS1_HUMAN	MOCS1	HGNC	Q9NZB8	MOCS1_HUMAN			Q9NP26_HUMAN		8	1207	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		UPI000019B3D7	357			Molybdenum cofactor biosynthesis protein A.		SNV	MOCS1,missense_variant,p.Ala357Thr,ENST00000373186,NM_005943.5;MOCS1,missense_variant,p.Ala357Thr,ENST00000308559,;MOCS1,missense_variant,p.Ala328Thr,ENST00000373175,;MOCS1,missense_variant,p.Ala357Thr,ENST00000373188,NM_001075098.3;MOCS1,missense_variant,p.Ala270Thr,ENST00000373195,;MOCS1,missense_variant,p.Ala357Thr,ENST00000340692,;MOCS1,missense_variant,p.Ala357Thr,ENST00000425303,;MOCS1,missense_variant,p.Ala328Thr,ENST00000432280,;DAAM2,downstream_gene_variant,,ENST00000538976,NM_015345.3;DAAM2,downstream_gene_variant,,ENST00000398904,;DAAM2,downstream_gene_variant,,ENST00000274867,NM_001201427.1;MOCS1,missense_variant,p.Ala270Thr,ENST00000373181,;MOCS1,downstream_gene_variant,,ENST00000473742,;	uc003opb.2	c.1069G>A	1073/2747	2	2			c.1069G>A						6	SNP	c.(1069-1071)GCT>ACT	22	22		p.A357V(1)	ovary(1)|liver(1)|central_nervous_system(1)	3	Broad	molybdenum cofactor synthesis-step 1 protein			39877612		0.622	ENSG00000124615	9512	g.chr6:39877612C>T	Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)			NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)			107.49959	KEEP	15	27	-1	33	48	15	27	-1	110.126083	33	48	0.33913	1	0	0	0	0	1	0	0	0	--	--		0	T			MOCS1_uc003opa.2_Missense_Mutation_p.A357T|MOCS1_uc003opc.2_Missense_Mutation_p.A357T|MOCS1_uc003opd.2_Missense_Mutation_p.A357T|MOCS1_uc003ope.2_Missense_Mutation_p.A270T	230	GBM-32-1979-TP	p.A357T	C	CCCACAGCAGCCCCAATGATT	NM_005942	NP_005933	39877612	Q9NZB8	MOCS1_HUMAN	0			8	1207	-	T	T	Ovarian(28;0.0355)|Colorectal(47;0.196)		Missense_Mutation	357			Molybdenum cofactor biosynthesis protein A.			
MOCS3	0	broad.mit.edu	GRCh37	20	49575846	49575846	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01	TCGA-12-3652-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000244051.1:c.467C>T	p.Pro156Leu	p.P156L	ENST00000244051	NM_014484.4	156	cCg/cTg	0	T:0		1			T	P/L	uc002xvy.1	protein_coding	YES	CCDS13435.1			467/1383									skin(2)|ovary(1)	3	c.(466-468)CCG>CTG			HAMAP:MF_03049,hmmpanther:PTHR10953,hmmpanther:PTHR10953:SF102,Pfam_domain:PF00899,Gene3D:3.40.50.720,Superfamily_domains:SSF69572	molybdenum cofactor synthesis 3			T:0.0001	ENSP00000244051		1-Jan	2.47E-05					4.67E-05			rs372128666,COSM3405185	1-Jan	.		ENST00000244051	Transcript			enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	ENSG00000124217	g.chr20:49575846C>T	15765			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=MOCS3_HUMAN&rb=82&re=215&var=P156L	getma.org/pdb.php?prot=MOCS3_HUMAN&from=82&to=215&var=P156L	getma.org/?cm=var&var=hg19,20,49575846,C,T&fts=all	P156L	--	--	1																																		DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	0,1	1		benign(0.015)	p.P156L	NM_014484	NP_055299		deleterious(0.05)	0,1	MOCS3_HUMAN	MOCS3	HGNC	O95396	MOCS3_HUMAN					1	484	+			UPI000012F369	156					SNV	MOCS3,missense_variant,p.Pro156Leu,ENST00000244051,NM_014484.4;DPM1,upstream_gene_variant,,ENST00000371582,;DPM1,upstream_gene_variant,,ENST00000371588,NM_003859.1;DPM1,upstream_gene_variant,,ENST00000371584,;DPM1,upstream_gene_variant,,ENST00000371583,;DPM1,upstream_gene_variant,,ENST00000413082,;DPM1,upstream_gene_variant,,ENST00000466152,;	uc002xvy.1	c.467C>T	484/2458	2	2			c.467C>T						20	SNP	c.(466-468)CCG>CTG	34	34			skin(2)|ovary(1)	3	Broad	molybdenum cofactor synthesis 3			49575846		0.657	ENSG00000124217	9514	g.chr20:49575846C>T	enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity							-30.627439	KEEP	3	1	-1	84	81	3	1	-1	6.573679	84	81	0.026667	1	0	0	0	0	1	0	0	0	--	--		0	T			DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	127	GBM-12-3652-TP	p.P156L	C	GAATGCGTGCCGTACACTCAG	NM_014484	NP_055299	49575846	O95396	MOCS3_HUMAN	0			1	484	+	T	T			Missense_Mutation	156						
MOGAT2	80168		GRCh37	11	75439862	75439862	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000198801.5:c.678C>T	p.Phe226=	p.F226=	ENST00000198801	NM_025098.2	226	ttC/ttT	0																																																																																																																																																																																																																																												
MOGAT3	0	broad.mit.edu	GRCh37	7	100841600	100841600	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-26-5134-01	TCGA-26-5134-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000223114.4:c.540G>A	p.Gln180=	p.Q180=	ENST00000223114	NM_178176.2	180	caG/caA	0			1			T	Q	uc003uyc.2	protein_coding	YES	CCDS5714.1			540/1026									ovary(2)	2	c.(538-540)CAG>CAA			Pfam_domain:PF03982,hmmpanther:PTHR12317,hmmpanther:PTHR12317:SF13	monoacylglycerol O-acyltransferase 3				ENSP00000223114		7-May									COSM2157004,COSM2157006,COSM2157005	7-May	.		ENST00000223114	Transcript			glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	ENSG00000106384	g.chr7:100841600C>T	23249			LOW								--	--	1																																		MOGAT3_uc010lhr.2_Silent_p.Q180Q	1,1,1	1			p.Q180Q	NM_178176	NP_835470			1,1,1	MOGT3_HUMAN	MOGAT3	HGNC	Q86VF5	MOGT3_HUMAN					5	707	-	Lung NSC(181;0.168)|all_lung(186;0.215)		UPI00000622D1	180					SNV	MOGAT3,synonymous_variant,p.=,ENST00000223114,NM_178176.2;MOGAT3,synonymous_variant,p.=,ENST00000440203,;MOGAT3,synonymous_variant,p.=,ENST00000379423,NM_001287147.1;DGAT2L7P,downstream_gene_variant,,ENST00000602462,;DGAT2L7P,downstream_gene_variant,,ENST00000379421,;	uc003uyc.2	c.540G>A	707/2132	2	2			c.540G>A						7	SNP	c.(538-540)CAG>CAA	47	47			ovary(2)	2	Broad	monoacylglycerol O-acyltransferase 3			100841600		0.657	ENSG00000106384	9518	g.chr7:100841600C>T	glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity							126.060735	KEEP	17	30	-1	17	39	17	30	-1	126.215583	17	39	0.455556	1	0	0	0	0	0	0	1	0	--	--		0	T			MOGAT3_uc010lhr.2_Silent_p.Q180Q	183	GBM-26-5134-TP	p.Q180Q	C	CGAGCTGGGGCTGGGACAGGA	NM_178176	NP_835470	100841600	Q86VF5	MOGT3_HUMAN	0			5	707	-	T	T	Lung NSC(181;0.168)|all_lung(186;0.215)		Silent	180						
MON1B	22879	broad.mit.edu	GRCh37	16	77229553	77229553	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01	TCGA-06-0646-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000248248.3:c.1417G>A	p.Ala473Thr	p.A473T	ENST00000248248	NM_014940.2	473	Gct/Act	0			1			A	A/T	uc002fez.2	protein_coding	YES	CCDS10925.1			1417/1644										0	c.(1417-1419)GCT>ACT			Pfam_domain:PF03164,hmmpanther:PTHR13027:SF13,hmmpanther:PTHR13027	MON1 homolog B				ENSP00000248248		6-May									COSM2151304	6-May	.		ENST00000248248	Transcript					protein binding	ENSG00000103111	g.chr16:77229553G>A	25020			MODERATE		0.46	neutral	getma.org/?cm=msa&ty=f&p=MON1B_HUMAN&rb=99&re=527&var=A473T	NA	getma.org/?cm=var&var=hg19,16,77229553,G,A&fts=all	A473T	--	--	1																																		MON1B_uc010vnf.1_Missense_Mutation_p.A364T|MON1B_uc010vng.1_Missense_Mutation_p.A327T|MON1B_uc002ffa.2_Missense_Mutation_p.A353T	1	1		benign(0.349)	p.A473T	NM_014940	NP_055755		tolerated(0.13)	1	MON1B_HUMAN	MON1B	HGNC	Q7L1V2	MON1B_HUMAN			H3BUX9_HUMAN,H3BU99_HUMAN,H3BR21_HUMAN,H3BPL8_HUMAN		5	1747	+			UPI0000072AD7	473					SNV	MON1B,stop_gained,p.Trp136Ter,ENST00000320859,;MON1B,missense_variant,p.Ala473Thr,ENST00000248248,NM_014940.2;MON1B,missense_variant,p.Ala327Thr,ENST00000545553,NM_001286640.1;MON1B,missense_variant,p.Ala364Thr,ENST00000439557,NM_001286639.1;MON1B,downstream_gene_variant,,ENST00000567291,;MON1B,downstream_gene_variant,,ENST00000563612,;SYCE1L,upstream_gene_variant,,ENST00000378644,NM_001129979.1;MON1B,downstream_gene_variant,,ENST00000569610,;MON1B,downstream_gene_variant,,ENST00000563279,;MON1B,non_coding_transcript_exon_variant,,ENST00000566455,;MON1B,downstream_gene_variant,,ENST00000564006,;MON1B,downstream_gene_variant,,ENST00000566963,;	uc002fez.2	c.1417G>A	1767/6091	1	1			c.1417G>A						16	SNP	c.(1417-1419)GCT>ACT	51	51				0	Broad	MON1 homolog B			77229553		0.587	ENSG00000103111	9521	g.chr16:77229553G>A			protein binding							203.395586	KEEP	36	48	-1	47	64	36	48	-1	203.962763	47	64	0.435065	1	0	0	0	0	1	0	0	0	--	--		0	A			MON1B_uc010vnf.1_Missense_Mutation_p.A364T|MON1B_uc010vng.1_Missense_Mutation_p.A327T|MON1B_uc002ffa.2_Missense_Mutation_p.A353T	60	GBM-06-0646-TP	p.A473T	G	TTACCACGTGGCTGAGAAGGA	NM_014940	NP_055755	77229553	Q7L1V2	MON1B_HUMAN	0			5	1747	+	A	A			Missense_Mutation	473						
MON2	23041		GRCh37	12	62954286	62954286	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000393632.2:c.3425C>T	p.Ala1142Val	p.A1142V	ENST00000393632	NM_001278472.1	1142	gCt/gTt	0																																																																																																																																																																																																																																												
MORC1	27136	broad.mit.edu	GRCh37	3	108754309	108754309	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01	TCGA-06-0124-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000232603.5:c.1337G>A	p.Arg446Lys	p.R446K	ENST00000232603	NM_014429.3	446	aGa/aAa	0			1			T	R/K	uc003dxl.2	protein_coding	YES	CCDS2955.1			1337/2955									ovary(3)|skin(3)|breast(2)	8	c.(1336-1338)AGA>AAA			hmmpanther:PTHR23337,hmmpanther:PTHR23337:SF6	MORC family CW-type zinc finger 1				ENSP00000232603		15/28									COSM2149308	15/28	.		ENST00000232603	Transcript			cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	ENSG00000114487	g.chr3:108754309C>T	7198			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=MORC1_HUMAN&rb=363&re=480&var=R446K	NA	getma.org/?cm=var&var=hg19,3,108754309,C,T&fts=all	R446K	--	--	1																																		MORC1_uc011bhn.1_Missense_Mutation_p.R446K	1	1		benign(0.101)	p.R446K	NM_014429	NP_055244		tolerated(0.29)	1	MORC1_HUMAN	MORC1	HGNC	Q86VD1	MORC1_HUMAN					15	1424	-			UPI000013C964	446					SNV	MORC1,missense_variant,p.Arg446Lys,ENST00000232603,NM_014429.3;MORC1,missense_variant,p.Arg446Lys,ENST00000483760,;	uc003dxl.2	c.1337G>A	1420/3764	1	1			c.1337G>A						3	SNP	c.(1336-1338)AGA>AAA	13	13			ovary(3)|skin(3)|breast(2)	8	Broad	MORC family CW-type zinc finger 1			108754309		0.254	ENSG00000114487	9523	g.chr3:108754309C>T	cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding							22.253581	KEEP	4	6	-1	21	12	4	6	-1	25.032922	21	12	0.225	1	0	0	0	0	1	0	0	0	--	--		0	T			MORC1_uc011bhn.1_Missense_Mutation_p.R446K	11	GBM-06-0124-TP	p.R446K	C	TGTTAAATTTCTATTATCTTT	NM_014429	NP_055244	108754309	Q86VD1	MORC1_HUMAN	0			15	1424	-	T	T			Missense_Mutation	446						
MORC1	0	broad.mit.edu	GRCh37	3	108698509	108698509	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-14-1823-01	TCGA-14-1823-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000232603.5:c.2330T>A	p.Leu777His	p.L777H	ENST00000232603	NM_014429.3	777	cTc/cAc	0			1			T	L/H	uc003dxl.2	protein_coding	YES	CCDS2955.1			2330/2955									ovary(3)|skin(3)|breast(2)	8	c.(2329-2331)CTC>CAC			hmmpanther:PTHR23337,hmmpanther:PTHR23337:SF6	MORC family CW-type zinc finger 1				ENSP00000232603		24/28									COSM3408101	24/28	.		ENST00000232603	Transcript			cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	ENSG00000114487	g.chr3:108698509A>T	7198			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=MORC1_HUMAN&rb=611&re=982&var=L777H	NA	getma.org/?cm=var&var=hg19,3,108698509,A,T&fts=all	L777H	--	--	1																																		MORC1_uc011bhn.1_Missense_Mutation_p.L756H	1	1		benign(0.003)	p.L777H	NM_014429	NP_055244		tolerated(0.54)	1	MORC1_HUMAN	MORC1	HGNC	Q86VD1	MORC1_HUMAN					24	2417	-			UPI000013C964	777					SNV	MORC1,missense_variant,p.Leu777His,ENST00000232603,NM_014429.3;MORC1,missense_variant,p.Leu756His,ENST00000483760,;	uc003dxl.2	c.2330T>A	2413/3764	2	2			c.2330T>A						3	SNP	c.(2329-2331)CTC>CAC	33	33			ovary(3)|skin(3)|breast(2)	8	Broad	MORC family CW-type zinc finger 1			108698509		0.368	ENSG00000114487	9523	g.chr3:108698509A>T	cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding							-13.390722	KEEP	6	2	-1	77	56	6	2	-1	14.186582	77	56	0.053435	1	0	0	0	0	1	0	0	0	--	--		0	T			MORC1_uc011bhn.1_Missense_Mutation_p.L756H	147	GBM-14-1823-TP	p.L777H	A	CGGCACATTGAGCAAGCTGAG	NM_014429	NP_055244	108698509	Q86VD1	MORC1_HUMAN	0			24	2417	-	T	T			Missense_Mutation	777						
MORC1	0	broad.mit.edu	GRCh37	3	108778663	108778663	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000232603.5:c.1021G>T	p.Glu341Ter	p.E341*	ENST00000232603	NM_014429.3	341	Gag/Tag	0			1			A	E/*	uc003dxl.2	protein_coding	YES	CCDS2955.1			1021/2955									ovary(3)|skin(3)|breast(2)	8	c.(1021-1023)GAG>TAG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23337,hmmpanther:PTHR23337:SF6	MORC family CW-type zinc finger 1				ENSP00000232603		28-Dec									COSM3408103	28-Dec	.		ENST00000232603	Transcript			cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	ENSG00000114487	g.chr3:108778663C>A	7198			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,3,108778663,C,A&fts=all	E341*	--	--	1																																		MORC1_uc011bhn.1_Nonsense_Mutation_p.E341*	1	1			p.E341*	NM_014429	NP_055244			1	MORC1_HUMAN	MORC1	HGNC	Q86VD1	MORC1_HUMAN					12	1108	-			UPI000013C964	341			Potential.		SNV	MORC1,stop_gained,p.Glu341Ter,ENST00000232603,NM_014429.3;MORC1,stop_gained,p.Glu341Ter,ENST00000483760,;	uc003dxl.2	c.1021G>T	1104/3764	5	1			c.1021G>T						3	SNP	c.(1021-1023)GAG>TAG	55	55			ovary(3)|skin(3)|breast(2)	8	Broad	MORC family CW-type zinc finger 1			108778663		0.368	ENSG00000114487	9523	g.chr3:108778663C>A	cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding							58.15265	KEEP	14	9	0.391304348	25	21	14	9	0.391304348	59.580401	25	21	0.33871	1	0	0	0	0	0	1	0	0	--	--		0	A			MORC1_uc011bhn.1_Nonsense_Mutation_p.E341*	159	GBM-19-1390-TP	p.E341*	C	CTTTGTTTCTCTTTAAGATTC	NM_014429	NP_055244	108778663	Q86VD1	MORC1_HUMAN	0			12	1108	-	A	A			Nonsense_Mutation	341			Potential.			
MORC1	27136		GRCh37	3	108724078	108724078	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000232603.5:c.1852C>T	p.Arg618Cys	p.R618C	ENST00000232603	NM_014429.3	618	Cgt/Tgt	0																																																																																																																																																																																																																																												
MORC1	27136		GRCh37	3	108682419	108682419	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000232603.5:c.2641del	p.Ile881Ter	p.I881*	ENST00000232603	NM_014429.3	881	Ata/ta	0																																																																																																																																																																																																																																												
MORC2	0	broad.mit.edu	GRCh37	22	31336801	31336801	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01	TCGA-32-2491-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397641.3:c.848G>A	p.Arg283His	p.R283H	ENST00000397641		283	cGt/cAt	0			1			T	R/H	uc003aje.1	protein_coding					848/3099									ovary(1)|pancreas(1)	2	c.(661-663)CGT>CAT			hmmpanther:PTHR23337:SF7,hmmpanther:PTHR23337	MORC family CW-type zinc finger 2				ENSP00000380763		26-Oct									COSM3405602,COSM3405603	26-Oct	.		ENST00000397641	Transcript					ATP binding|zinc ion binding	ENSG00000133422	g.chr22:31336801C>T	23573			MODERATE		2.24	medium	getma.org/?cm=msa&ty=f&p=MORC2_HUMAN&rb=165&re=364&var=R283H	NA	getma.org/?cm=var&var=hg19,22,31336801,C,T&fts=all	R283H	--	--	1																																			1,1			benign(0.127)	p.R221H	NM_014941	NP_055756		deleterious(0.02)	1,1	MORC2_HUMAN	MORC2	HGNC	Q9Y6X9	MORC2_HUMAN					11	2026	-			UPI000041AB7E	283			Potential.		SNV	MORC2,missense_variant,p.Arg283His,ENST00000397641,;MORC2,missense_variant,p.Arg221His,ENST00000215862,NM_014941.1;MORC2,non_coding_transcript_exon_variant,,ENST00000469915,;MORC2,downstream_gene_variant,,ENST00000476152,;	uc003aje.1	c.662G>A	1257/5181	2	2			c.662G>A						22	SNP	c.(661-663)CGT>CAT	29	29			ovary(1)|pancreas(1)	2	Broad	MORC family CW-type zinc finger 2			31336801		0.567	ENSG00000133422	9524	g.chr22:31336801C>T			ATP binding|zinc ion binding							79.581546	KEEP	17	25	-1	47	70	17	25	-1	86.615468	47	70	0.25	1	0	0	0	0	1	0	0	0	--	--		0	T				235	GBM-32-2491-TP	p.R221H	C	GGTCTTGAAACGGCTTGACGT	NM_014941	NP_055756	31336801	Q9Y6X9	MORC2_HUMAN	0			11	2026	-	T	T			Missense_Mutation	283			Potential.			
MORC3	23515		GRCh37	21	37732374	37732374	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000400485.1:c.1330A>G	p.Arg444Gly	p.R444G	ENST00000400485	NM_015358.2	444	Aga/Gga	0																																																																																																																																																																																																																																												
MORC4	0	broad.mit.edu	GRCh37	X	106221358	106221358	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-76-4932-01	TCGA-76-4932-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355610.4:c.1008T>A	p.His336Gln	p.H336Q	ENST00000355610	NM_001085354.2	336	caT/caA	0			1			T	H/Q	uc004emu.3	protein_coding	YES	CCDS14525.2			1008/2814									ovary(1)	1	c.(1006-1008)CAT>CAA			hmmpanther:PTHR23336,hmmpanther:PTHR23336:SF1	zinc finger, CW type with coiled-coil domain 2				ENSP00000347821		17-Aug									COSM3405820,COSM3405819	17-Aug	.		ENST00000355610	Transcript					ATP binding|zinc ion binding	ENSG00000133131	g.chrX:106221358A>T	23485			MODERATE		3.335	medium	getma.org/?cm=msa&ty=f&p=MORC4_HUMAN&rb=180&re=379&var=H336Q	NA	getma.org/?cm=var&var=hg19,X,106221358,A,T&fts=all	H336Q	--	--	1																																		MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Missense_Mutation_p.H336Q|MORC4_uc004emw.3_Missense_Mutation_p.H84Q	1,1	1		probably_damaging(0.999)	p.H336Q	NM_024657	NP_078933		deleterious(0)	1,1	MORC4_HUMAN	MORC4	HGNC	Q8TE76	MORC4_HUMAN					8	1251	-			UPI00003E75D3	336					SNV	MORC4,missense_variant,p.His336Gln,ENST00000355610,NM_001085354.2,NM_024657.4;MORC4,missense_variant,p.His84Gln,ENST00000535534,;MORC4,missense_variant,p.His336Gln,ENST00000255495,;MORC4,intron_variant,,ENST00000604604,;	uc004emu.3	c.1008T>A	1283/3834	2	2			c.1008T>A						23	SNP	c.(1006-1008)CAT>CAA	35	35			ovary(1)	1	Broad	zinc finger, CW type with coiled-coil domain 2			106221358		0.393	ENSG00000133131	9526	g.chrX:106221358A>T			ATP binding|zinc ion binding							572.485134	KEEP	99	95	-1	127	128	99	95	-1	574.241571	127	128	0.430288	1	0	0	0	0	1	0	0	0	--	--		0	T			MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Missense_Mutation_p.H336Q|MORC4_uc004emw.3_Missense_Mutation_p.H84Q	271	GBM-76-4932-TP	p.H336Q	A	GTCGGTTGTTATGATACATCA	NM_024657	NP_078933	106221358	Q8TE76	MORC4_HUMAN	0			8	1251	-	T	T			Missense_Mutation	336						
MORF4L1	0	broad.mit.edu	GRCh37	15	79183885	79183885	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-5208-01	TCGA-28-5208-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331268.5:c.526A>G	p.Arg176Gly	p.R176G	ENST00000331268	NM_206839.2	176	Agg/Ggg	0			1			G	R/G	uc002bel.2	protein_coding	YES	CCDS10307.1			526/1089										0	c.(526-528)AGG>GGG			Gene3D:1wgsA00,Pfam_domain:PF05712,PIRSF_domain:PIRSF038133,hmmpanther:PTHR10880,hmmpanther:PTHR10880:SF29	MORF-related gene 15 isoform 2				ENSP00000331310		13-Aug									COSM3401948	13-Aug	.		ENST00000331268	Transcript			double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding	ENSG00000185787	g.chr15:79183885A>G	16989			MODERATE		2.43	medium	getma.org/?cm=msa&ty=f&p=MO4L1_HUMAN&rb=165&re=350&var=R176G	NA	getma.org/?cm=var&var=hg19,15,79183885,A,G&fts=all	R176G	--	--	1																																		MORF4L1_uc010bli.1_3'UTR|MORF4L1_uc010blj.1_Missense_Mutation_p.R110G|MORF4L1_uc002bem.2_Missense_Mutation_p.R137G|MORF4L1_uc010une.1_Missense_Mutation_p.R49G	1	1		probably_damaging(0.977)	p.R176G	NM_206839	NP_996670		deleterious(0)	1	MO4L1_HUMAN	MORF4L1	HGNC	Q9UBU8	MO4L1_HUMAN			H0YNX3_HUMAN,H0YNI8_HUMAN,H0YMT8_HUMAN,H0YM21_HUMAN,H0YLV1_HUMAN		8	714	+			UPI000000D82F	176			Sufficient for interaction with SIN3A.|Interaction with RB1-1.		SNV	MORF4L1,missense_variant,p.Arg176Gly,ENST00000331268,NM_206839.2;MORF4L1,missense_variant,p.Arg162Gly,ENST00000379535,;MORF4L1,missense_variant,p.Arg137Gly,ENST00000426013,NM_006791.3;MORF4L1,missense_variant,p.Arg49Gly,ENST00000559345,NM_001265604.1,NM_001265605.1;MORF4L1,missense_variant,p.Arg110Gly,ENST00000558746,;MORF4L1,missense_variant,p.Arg49Gly,ENST00000558502,NM_001265603.1;MORF4L1,missense_variant,p.Arg49Gly,ENST00000559158,;MORF4L1,missense_variant,p.Arg147Gly,ENST00000560422,;MORF4L1,missense_variant,p.Arg49Gly,ENST00000559690,;MORF4L1,missense_variant,p.Arg49Gly,ENST00000559930,;MORF4L1,missense_variant,p.Arg153Gly,ENST00000559751,;MORF4L1,missense_variant,p.Arg49Gly,ENST00000558830,;MORF4L1,missense_variant,p.Arg49Gly,ENST00000559244,;MORF4L1,intron_variant,,ENST00000561171,;MORF4L1,downstream_gene_variant,,ENST00000558539,;MORF4L1,non_coding_transcript_exon_variant,,ENST00000558893,;MORF4L1,non_coding_transcript_exon_variant,,ENST00000558522,;MORF4L1,non_coding_transcript_exon_variant,,ENST00000559258,;MORF4L1,non_coding_transcript_exon_variant,,ENST00000558923,;MORF4L1,upstream_gene_variant,,ENST00000560710,;MORF4L1,downstream_gene_variant,,ENST00000559619,;	uc002bel.2	c.526A>G	730/2359	3	3			c.526A>G						15	SNP	c.(526-528)AGG>GGG	9	9				0	Broad	MORF-related gene 15 isoform 2			79183885		0.448	ENSG00000185787	9528	g.chr15:79183885A>G	double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding							-45.954087	KEEP	2	1	-1	101	116	2	1	-1	6.589594	101	116	0.015228	1	0	0	0	0	1	0	0	0	--	--		0	G			MORF4L1_uc010bli.1_3'UTR|MORF4L1_uc010blj.1_Missense_Mutation_p.R110G|MORF4L1_uc002bem.2_Missense_Mutation_p.R137G|MORF4L1_uc010une.1_Missense_Mutation_p.R49G	217	GBM-28-5208-TP	p.R176G	A	TCGGAAGAAAAGGGCCCGGGT	NM_206839	NP_996670	79183885	Q9UBU8	MO4L1_HUMAN	0			8	714	+	G	G			Missense_Mutation	176			Sufficient for interaction with SIN3A.|Interaction with RB1-1.			
MORF4L2	0	broad.mit.edu	GRCh37	X	102931771	102931771	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01	TCGA-28-2509-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360458.1:c.185G>A	p.Arg62His	p.R62H	ENST00000360458	NM_001142421.1	62	cGc/cAc	0			1			T	R/H	uc004ekw.2	protein_coding		CCDS14512.1			185/867										0	c.(184-186)CGC>CAC			hmmpanther:PTHR10880:SF25,hmmpanther:PTHR10880	mortality factor 4 like 2				ENSP00000353643		4-Apr									COSM3405791	4-Apr	.		ENST00000360458	Transcript			chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding	ENSG00000123562	g.chrX:102931771C>T	16849			MODERATE		0.205	neutral	getma.org/?cm=msa&ty=f&p=MO4L2_HUMAN&rb=1&re=90&var=R62H	NA	getma.org/?cm=var&var=hg19,X,102931771,C,T&fts=all	R62H	--	--	1																																		MORF4L2_uc004ela.2_Missense_Mutation_p.R62H|MORF4L2_uc004ekx.2_Missense_Mutation_p.R62H|MORF4L2_uc004elb.2_Missense_Mutation_p.R62H|MORF4L2_uc004eky.2_Missense_Mutation_p.R62H|MORF4L2_uc010nos.2_Missense_Mutation_p.R62H|MORF4L2_uc004ekz.2_Missense_Mutation_p.R62H|MORF4L2_uc011mry.1_Missense_Mutation_p.R62H|MORF4L2_uc011mrz.1_Missense_Mutation_p.R62H|MORF4L2_uc004elc.2_Missense_Mutation_p.R62H|MORF4L2_uc004elf.2_Missense_Mutation_p.R62H|MORF4L2_uc004ele.2_Missense_Mutation_p.R62H|MORF4L2_uc011msa.1_Missense_Mutation_p.R62H|MORF4L2_uc011msb.1_Missense_Mutation_p.R62H|MORF4L2_uc011msc.1_Missense_Mutation_p.R62H|MORF4L2_uc011msd.1_Missense_Mutation_p.R62H|MORF4L2_uc004eld.2_Missense_Mutation_p.R62H	1			benign(0)	p.R62H	NM_012286	NP_036418		tolerated(0.12)	1	MO4L2_HUMAN	MORF4L2	HGNC	Q15014	MO4L2_HUMAN			Q5JXX6_HUMAN,Q5JXX4_HUMAN,Q5JXX3_HUMAN,Q5JXX2_HUMAN,Q5JXX1_HUMAN,B4DXQ8_HUMAN,B3KWX6_HUMAN		4	1417	-			UPI000012F567	62					SNV	MORF4L2,missense_variant,p.Arg62His,ENST00000423833,;MORF4L2,missense_variant,p.Arg62His,ENST00000422154,NM_001142418.1,NM_001142424.1,NM_001142429.1;MORF4L2,missense_variant,p.Arg62His,ENST00000433176,NM_001142432.1,NM_001142428.1,NM_001142422.1;MORF4L2,missense_variant,p.Arg62His,ENST00000451301,NM_001142426.1;MORF4L2,missense_variant,p.Arg62His,ENST00000441076,NM_012286.2,NM_001142419.1;MORF4L2,missense_variant,p.Arg62His,ENST00000360458,NM_001142421.1,NM_001142427.1,NM_001142425.1,NM_001142423.1;MORF4L2,missense_variant,p.Arg62His,ENST00000434230,;MORF4L2,missense_variant,p.Arg62His,ENST00000442614,;MORF4L2,missense_variant,p.Arg62His,ENST00000418819,;MORF4L2,missense_variant,p.Arg62His,ENST00000422355,;MORF4L2,non_coding_transcript_exon_variant,,ENST00000492116,;MORF4L2,downstream_gene_variant,,ENST00000474653,;MORF4L2,downstream_gene_variant,,ENST00000498064,;MORF4L2,downstream_gene_variant,,ENST00000467755,;	uc004ekw.2	c.185G>A	477/1824	1	1			c.185G>A						23	SNP	c.(184-186)CGC>CAC	10	10				0	Broad	mortality factor 4 like 2			102931771		0.532	ENSG00000123562	9529	g.chrX:102931771C>T	chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding							185.166298	KEEP	42	28	-1	85	54	42	28	-1	189.73837	85	54	0.338384	1	0	0	0	0	1	0	0	0	--	--		0	T			MORF4L2_uc004ela.2_Missense_Mutation_p.R62H|MORF4L2_uc004ekx.2_Missense_Mutation_p.R62H|MORF4L2_uc004elb.2_Missense_Mutation_p.R62H|MORF4L2_uc004eky.2_Missense_Mutation_p.R62H|MORF4L2_uc010nos.2_Missense_Mutation_p.R62H|MORF4L2_uc004ekz.2_Missense_Mutation_p.R62H|MORF4L2_uc011mry.1_Missense_Mutation_p.R62H|MORF4L2_uc011mrz.1_Missense_Mutation_p.R62H|MORF4L2_uc004elc.2_Missense_Mutation_p.R62H|MORF4L2_uc004elf.2_Missense_Mutation_p.R62H|MORF4L2_uc004ele.2_Missense_Mutation_p.R62H|MORF4L2_uc011msa.1_Missense_Mutation_p.R62H|MORF4L2_uc011msb.1_Missense_Mutation_p.R62H|MORF4L2_uc011msc.1_Missense_Mutation_p.R62H|MORF4L2_uc011msd.1_Missense_Mutation_p.R62H|MORF4L2_uc004eld.2_Missense_Mutation_p.R62H	211	GBM-28-2509-TP	p.R62H	C	CTCTGCAGAGCGACCACCCCA	NM_012286	NP_036418	102931771	Q15014	MO4L2_HUMAN	0			4	1417	-	T	T			Missense_Mutation	62						
MOV10	0	broad.mit.edu	GRCh37	1	113239252	113239252	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01	TCGA-12-0615-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357443.2:c.1982G>A	p.Gly661Glu	p.G661E	ENST00000357443		661	gGg/gAg	0			1			A	G/E	uc001eck.2	protein_coding		CCDS853.1			1982/3012									ovary(4)|skin(1)	5	c.(1981-1983)GGG>GAG			Gene3D:3.40.50.300,Pfam_domain:PF13086,hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF326,Superfamily_domains:SSF52540	Mov10, Moloney leukemia virus 10, homolog				ENSP00000350028		13/20									COSM2153487	13/20	.		ENST00000357443	Transcript			mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	ENSG00000155363	g.chr1:113239252G>A	7200			MODERATE		3.005	medium	getma.org/?cm=msa&ty=f&p=MOV10_HUMAN&rb=601&re=691&var=G661E	NA	getma.org/?cm=var&var=hg19,1,113239252,G,A&fts=all	G661E	--	--	1																																		MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Missense_Mutation_p.G661E|MOV10_uc001ecm.2_Missense_Mutation_p.G601E	1			probably_damaging(0.998)	p.G661E	NM_001130079	NP_001123551		deleterious(0)	1	MOV10_HUMAN	MOV10	HGNC	Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	Q5JR04_HUMAN,B3KQ43_HUMAN		14	2252	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	UPI000012FA84	661					SNV	MOV10,missense_variant,p.Gly605Glu,ENST00000369644,NM_001286072.1;MOV10,missense_variant,p.Gly661Glu,ENST00000413052,NM_001130079.1,NM_020963.3;MOV10,missense_variant,p.Gly661Glu,ENST00000369645,;MOV10,missense_variant,p.Gly661Glu,ENST00000357443,;RHOC,downstream_gene_variant,,ENST00000285735,;RHOC,downstream_gene_variant,,ENST00000339083,NM_175744.4;RHOC,downstream_gene_variant,,ENST00000369642,NM_001042678.1;RHOC,downstream_gene_variant,,ENST00000369633,NM_001042679.1;RHOC,downstream_gene_variant,,ENST00000369638,;RHOC,downstream_gene_variant,,ENST00000369632,;RHOC,downstream_gene_variant,,ENST00000369637,;RHOC,downstream_gene_variant,,ENST00000425265,;RHOC,downstream_gene_variant,,ENST00000369636,;RHOC,downstream_gene_variant,,ENST00000534717,;RP11-426L16.3,upstream_gene_variant,,ENST00000421943,;MOV10,splice_region_variant,,ENST00000468624,;MOV10,splice_region_variant,,ENST00000496577,;MOV10,upstream_gene_variant,,ENST00000490413,;MOV10,upstream_gene_variant,,ENST00000488160,;MOV10,upstream_gene_variant,,ENST00000494319,;MOV10,upstream_gene_variant,,ENST00000495374,;MOV10,upstream_gene_variant,,ENST00000471160,;MOV10,downstream_gene_variant,,ENST00000479858,;MOV10,upstream_gene_variant,,ENST00000482545,;MOV10,upstream_gene_variant,,ENST00000481711,;RHOC,downstream_gene_variant,,ENST00000468093,;RHOC,downstream_gene_variant,,ENST00000473074,;RHOC,downstream_gene_variant,,ENST00000484280,;	uc001eck.2	c.1982G>A	2150/3383	1	1			c.1982G>A						1	SNP	c.(1981-1983)GGG>GAG	51	51			ovary(4)|skin(1)	5	Broad	Mov10, Moloney leukemia virus 10, homolog			113239252		0.602	ENSG00000155363	9540	g.chr1:113239252G>A	mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding							60.181114	KEEP	7	13	-1	3	5	7	13	-1	60.899747	3	5	0.68	1	0	0	0	0	1	0	0	0	--	--		0	A			MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Missense_Mutation_p.G661E|MOV10_uc001ecm.2_Missense_Mutation_p.G601E	117	GBM-12-0615-TP	p.G661E	G	TGCTTCCCAGGGCTGATGGAA	NM_001130079	NP_001123551	113239252	Q9HCE1	MOV10_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	14	2252	+	A	A	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	Missense_Mutation	661						
MOV10	0	broad.mit.edu	GRCh37	1	113232671	113232671	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01	TCGA-14-0813-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357443.2:c.787G>A	p.Gly263Arg	p.G263R	ENST00000357443		263	Gga/Aga	0			1			A	G/R	uc001eck.2	protein_coding		CCDS853.1			787/3012									ovary(4)|skin(1)	5	c.(787-789)GGA>AGA			hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF326	Mov10, Moloney leukemia virus 10, homolog				ENSP00000350028		20-Apr	8.24E-06					1.51E-05			rs747439667,COSM3399540	20-Apr	.		ENST00000357443	Transcript			mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	ENSG00000155363	g.chr1:113232671G>A	7200			MODERATE		-1.04	neutral	getma.org/?cm=msa&ty=f&p=MOV10_HUMAN&rb=201&re=400&var=G263R	NA	getma.org/?cm=var&var=hg19,1,113232671,G,A&fts=all	G263R	--	--	1																																		MOV10_uc001ecl.2_Missense_Mutation_p.G263R|MOV10_uc001ecn.2_Missense_Mutation_p.G263R|MOV10_uc001ecm.2_Missense_Mutation_p.G203R|MOV10_uc009wgj.1_Missense_Mutation_p.G203R	0,1			benign(0)	p.G263R	NM_001130079	NP_001123551		tolerated(0.4)	0,1	MOV10_HUMAN	MOV10	HGNC	Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	Q5JR04_HUMAN,B3KQ43_HUMAN		5	1057	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	UPI000012FA84	263					SNV	MOV10,missense_variant,p.Gly207Arg,ENST00000369644,NM_001286072.1;MOV10,missense_variant,p.Gly263Arg,ENST00000413052,NM_001130079.1,NM_020963.3;MOV10,missense_variant,p.Gly263Arg,ENST00000369645,;MOV10,missense_variant,p.Gly263Arg,ENST00000357443,;MOV10,downstream_gene_variant,,ENST00000544796,;RP11-426L16.3,downstream_gene_variant,,ENST00000421943,;MOV10,non_coding_transcript_exon_variant,,ENST00000468624,;MOV10,non_coding_transcript_exon_variant,,ENST00000496577,;MOV10,downstream_gene_variant,,ENST00000465579,;MOV10,downstream_gene_variant,,ENST00000475429,;MOV10,upstream_gene_variant,,ENST00000479858,;	uc001eck.2	c.787G>A	955/3383	2	2			c.787G>A						1	SNP	c.(787-789)GGA>AGA	22	22			ovary(4)|skin(1)	5	Broad	Mov10, Moloney leukemia virus 10, homolog			113232671		0.602	ENSG00000155363	9540	g.chr1:113232671G>A	mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding							-31.774778	KEEP	2	4	-1	98	95	2	4	-1	10.456825	98	95	0.028902	1	0	0	0	0	1	0	0	0	--	--		0	A			MOV10_uc001ecl.2_Missense_Mutation_p.G263R|MOV10_uc001ecn.2_Missense_Mutation_p.G263R|MOV10_uc001ecm.2_Missense_Mutation_p.G203R|MOV10_uc009wgj.1_Missense_Mutation_p.G203R	138	GBM-14-0813-TP	p.G263R	G	CCGGATCACCGGAAACCCTGT	NM_001130079	NP_001123551	113232671	Q9HCE1	MOV10_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	5	1057	+	A	A	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	Missense_Mutation	263						
MOV10L1	54456		GRCh37	22	50588117	50588117	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000262794.5:c.2701G>A	p.Gly901Arg	p.G901R	ENST00000262794	NM_018995.2	901	Ggg/Agg	0																																																																																																																																																																																																																																												
MPDZ	0	broad.mit.edu	GRCh37	9	13107002	13107002	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01	TCGA-28-5207-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319217.7:c.6175C>T	p.Arg2059Trp	p.R2059W	ENST00000319217	NM_001261406.1	2059	Cgg/Tgg	0			1			A	R/W	uc010mhy.2	protein_coding					6175/6213									ovary(5)|central_nervous_system(1)	6	c.(6088-6090)CGG>TGG			Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR19964,hmmpanther:PTHR19964:SF10,SMART_domains:SM00228,Superfamily_domains:SSF50156	multiple PDZ domain protein				ENSP00000320006		47/47	5.79E-05			0.000116		7.49E-05		6.06E-05	rs745768687,COSM3413361,COSM3413360,COSM3413359	47/47	.		ENST00000319217	Transcript	1		interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	ENSG00000107186	g.chr9:13107002G>A	7208			MODERATE		1.955	medium	getma.org/?cm=msa&ty=f&p=MPDZ_HUMAN&rb=1987&re=2069&var=R2059W	getma.org/pdb.php?prot=MPDZ_HUMAN&from=1987&to=2069&var=R2059W	getma.org/?cm=var&var=hg19,9,13107002,G,A&fts=all	R2059W	--	--	1																																		MPDZ_uc003zkx.3_Missense_Mutation_p.R254W|MPDZ_uc003zky.3_Missense_Mutation_p.R593W|MPDZ_uc010mib.2_Missense_Mutation_p.R764W|MPDZ_uc010mhx.2_Missense_Mutation_p.R881W|MPDZ_uc011lmm.1_Missense_Mutation_p.R918W|MPDZ_uc003zkz.3_Missense_Mutation_p.R752W|MPDZ_uc010mhz.2_Missense_Mutation_p.R2026W|MPDZ_uc011lmn.1_Missense_Mutation_p.R1997W|MPDZ_uc003zlb.3_Missense_Mutation_p.R2030W	0,1,1,1			probably_damaging(0.98)	p.R2030W	NM_003829	NP_003820		deleterious(0)	0,1,1,1	MPDZ_HUMAN	MPDZ	HGNC	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	B3KRN5_HUMAN,B3KQC9_HUMAN		45	6139	-			UPI0000211133	2059			PDZ 13.		SNV	MPDZ,missense_variant,p.Arg2059Trp,ENST00000319217,NM_001261406.1;MPDZ,missense_variant,p.Arg2030Trp,ENST00000541718,NM_001261407.1,NM_003829.4;MPDZ,missense_variant,p.Arg2030Trp,ENST00000381022,;MPDZ,missense_variant,p.Arg2059Trp,ENST00000381015,;MPDZ,missense_variant,p.Arg2073Trp,ENST00000546205,;MPDZ,missense_variant,p.Arg2026Trp,ENST00000447879,;MPDZ,missense_variant,p.Arg1997Trp,ENST00000536827,;MPDZ,missense_variant,p.Arg995Trp,ENST00000545857,;MPDZ,missense_variant,p.Arg918Trp,ENST00000538841,;MPDZ,missense_variant,p.Arg293Trp,ENST00000541093,;MPDZ,missense_variant,p.Arg600Trp,ENST00000438511,;MPDZ,3_prime_UTR_variant,,ENST00000542806,;MPDZ,non_coding_transcript_exon_variant,,ENST00000539508,;MPDZ,non_coding_transcript_exon_variant,,ENST00000319198,;MPDZ,non_coding_transcript_exon_variant,,ENST00000381017,;	uc010mhy.2	c.6088C>T	6423/7722	2	2			c.6088C>T						9	SNP	c.(6088-6090)CGG>TGG	47	47			ovary(5)|central_nervous_system(1)	6	Broad	multiple PDZ domain protein			13107002		0.483	ENSG00000107186	9544	g.chr9:13107002G>A	interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding							210.748286	KEEP	48	43	-1	111	126	48	43	-1	223.294515	111	126	0.280277	1	0	0	0	0	1	0	0	0	--	--		0	A			MPDZ_uc003zkx.3_Missense_Mutation_p.R254W|MPDZ_uc003zky.3_Missense_Mutation_p.R593W|MPDZ_uc010mib.2_Missense_Mutation_p.R764W|MPDZ_uc010mhx.2_Missense_Mutation_p.R881W|MPDZ_uc011lmm.1_Missense_Mutation_p.R918W|MPDZ_uc003zkz.3_Missense_Mutation_p.R752W|MPDZ_uc010mhz.2_Missense_Mutation_p.R2026W|MPDZ_uc011lmn.1_Missense_Mutation_p.R1997W|MPDZ_uc003zlb.3_Missense_Mutation_p.R2030W	216	GBM-28-5207-TP	p.R2030W	G	CCTTTTGTCCGTTTAAGGATG	NM_003829	NP_003820	13107002	O75970	MPDZ_HUMAN	0		GBM - Glioblastoma multiforme(50;2.03e-06)	45	6139	-	A	A			Missense_Mutation	2059			PDZ 13.			
MPDZ	0	broad.mit.edu	GRCh37	9	13162794	13162794	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C			TCGA-76-6193-01	TCGA-76-6193-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319217.7:c.3255A>G	p.Lys1085=	p.K1085=	ENST00000319217	NM_001261406.1	1085	aaA/aaG	0			1			C	K	uc010mia.1	protein_coding					3255/6213									ovary(5)|central_nervous_system(1)	6	c.(3253-3255)AAA>AAG			Gene3D:2.30.42.10,hmmpanther:PTHR19964,hmmpanther:PTHR19964:SF10,SMART_domains:SM00228,Superfamily_domains:SSF50156	multiple PDZ domain protein				ENSP00000320006		23/47									COSM3413373,COSM3413372,COSM3413371	23/47	.		ENST00000319217	Transcript	1		interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	ENSG00000107186	g.chr9:13162794T>C	7208			LOW								--	--	1																																		MPDZ_uc010mhx.2_5'UTR|MPDZ_uc011lmm.1_5'UTR|MPDZ_uc003zkz.3_Intron|MPDZ_uc010mhy.2_Silent_p.K1085K|MPDZ_uc010mhz.2_Silent_p.K1085K|MPDZ_uc011lmn.1_Silent_p.K1085K|MPDZ_uc003zlb.3_Silent_p.K1085K	1,1,1				p.K1085K	NM_003829	NP_003820			1,1,1	MPDZ_HUMAN	MPDZ	HGNC	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	B3KRN5_HUMAN,B3KQC9_HUMAN		22	3312	-			UPI0000211133	1085			PDZ 6.		SNV	MPDZ,splice_region_variant,p.=,ENST00000319217,NM_001261406.1;MPDZ,splice_region_variant,p.=,ENST00000541718,NM_001261407.1,NM_003829.4;MPDZ,splice_region_variant,p.=,ENST00000381022,;MPDZ,splice_region_variant,p.=,ENST00000381015,;MPDZ,splice_region_variant,p.=,ENST00000546205,;MPDZ,splice_region_variant,p.=,ENST00000447879,;MPDZ,splice_region_variant,p.=,ENST00000536827,;MPDZ,splice_region_variant,p.=,ENST00000545857,;MPDZ,splice_region_variant,,ENST00000538841,;MPDZ,splice_region_variant,,ENST00000433359,;MPDZ,splice_region_variant,,ENST00000542239,;MPDZ,splice_region_variant,,ENST00000539508,;MPDZ,intron_variant,,ENST00000319198,;	uc010mia.1	c.3255A>G	3503/7722	4	4			c.3255A>G						9	SNP	c.(3253-3255)AAA>AAG	35	35			ovary(5)|central_nervous_system(1)	6	Broad	multiple PDZ domain protein			13162794		0.348	ENSG00000107186	9544	g.chr9:13162794T>C	interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding							38.753072	KEEP	11	6	-1	22	18	11	6	-1	41.359914	22	18	0.26	1	0	0	0	0	0	0	1	0	--	--		0	C			MPDZ_uc010mhx.2_5'UTR|MPDZ_uc011lmm.1_5'UTR|MPDZ_uc003zkz.3_Intron|MPDZ_uc010mhy.2_Silent_p.K1085K|MPDZ_uc010mhz.2_Silent_p.K1085K|MPDZ_uc011lmn.1_Silent_p.K1085K|MPDZ_uc003zlb.3_Silent_p.K1085K	276	GBM-76-6193-TP	p.K1085K	T	CATAAGTAATTCTGGAACAAA	NM_003829	NP_003820	13162794	O75970	MPDZ_HUMAN	0		GBM - Glioblastoma multiforme(50;2.03e-06)	22	3312	-	C	C			Silent	1085			PDZ 6.			
MPEG1	219972	broad.mit.edu	GRCh37	11	58978613	58978613	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0219-01	TCGA-06-0219-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361050.3:c.1726T>C	p.Tyr576His	p.Y576H	ENST00000361050	NM_001039396.1	576	Tat/Cat	0			1			G	Y/H	uc001nnu.3	protein_coding	YES	CCDS41650.1			1726/2151									ovary(1)|skin(1)	2	c.(1726-1728)TAT>CAT			hmmpanther:PTHR31463,hmmpanther:PTHR31463:SF3	macrophage expressed gene 1 precursor				ENSP00000354335		1-Jan									COSM3397911	1-Jan	.		ENST00000361050	Transcript				integral to membrane		ENSG00000197629	g.chr11:58978613A>G	29619			MODERATE		2.395	medium	getma.org/?cm=msa&ty=f&p=MPEG1_HUMAN&rb=542&re=716&var=Y576H	NA	getma.org/?cm=var&var=hg19,11,58978613,A,G&fts=all	Y576H	--	--	1																																			1	1		probably_damaging(0.99)	p.Y576H	NM_001039396	NP_001034485		deleterious(0.01)	1	MPEG1_HUMAN	MPEG1	HGNC	Q2M385	MPEG1_HUMAN					1	1882	-		all_epithelial(135;0.125)	UPI0000049D9F	576			Extracellular (Potential).		SNV	MPEG1,missense_variant,p.Tyr576His,ENST00000361050,NM_001039396.1;DTX4,downstream_gene_variant,,ENST00000227451,NM_015177.1;RN7SL42P,downstream_gene_variant,,ENST00000579786,;	uc001nnu.3	c.1726T>C	1812/4442	3	3			c.1726T>C						11	SNP	c.(1726-1728)TAT>CAT	61	61			ovary(1)|skin(1)	2	Broad	macrophage expressed gene 1 precursor			58978613		0.602	ENSG00000197629	9545	g.chr11:58978613A>G		integral to membrane								-50.038199	KEEP	3	2	-1	130	126	3	2	-1	9.065451	130	126	0.021645	1	0	0	0	0	1	0	0	0	--	--		0	G				52	GBM-06-0219-TP	p.Y576H	A	TTGACGCAATAGGACACTTGG	NM_001039396	NP_001034485	58978613	Q2M385	MPEG1_HUMAN	0			1	1882	-	G	G		all_epithelial(135;0.125)	Missense_Mutation	576			Extracellular (Potential).			
MPG	4350	broad.mit.edu	GRCh37	16	133088	133088	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-01	TCGA-06-0190-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000219431.4:c.353G>A	p.Arg118Gln	p.R118Q	ENST00000219431	NM_002434.3	118	cGa/cAa	0	A:0	A:0	1	A:0		A	R/Q	uc002cfn.2	protein_coding	YES	CCDS32346.1			353/897									ovary(1)|skin(1)	2	c.(352-354)CGA>CAA		BER_DNA_glycosylases	HAMAP:MF_00527,hmmpanther:PTHR10429,hmmpanther:PTHR10429:SF0,Gene3D:1ewnA00,TIGRFAM_domain:TIGR00567,Pfam_domain:PF02245,Superfamily_domains:SSF50486	N-methylpurine-DNA glycosylase isoform a		A:0.001	A:0.0002	ENSP00000219431	A:0	5-Apr	0.000502			0.00185		0.000686			rs201536549,COSM967161	5-Apr	common_variant		ENST00000219431	Transcript		A:0.0002	depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding	ENSG00000103152	g.chr16:133088G>A	7211			MODERATE		2.285	medium	getma.org/?cm=msa&ty=f&p=3MG_HUMAN&rb=87&re=284&var=R118Q	getma.org/pdb.php?prot=3MG_HUMAN&from=87&to=284&var=R118Q	getma.org/?cm=var&var=hg19,16,133088,G,A&fts=all	R118Q	--	--	1																																		MPG_uc002cfm.2_Missense_Mutation_p.R101Q|MPG_uc010bqp.2_Missense_Mutation_p.R101Q|MPG_uc002cfo.2_Missense_Mutation_p.R113Q	0,1	1		probably_damaging(0.982)	p.R118Q	NM_002434	NP_002425	A:0	deleterious(0.05)	0,1	3MG_HUMAN	MPG	HGNC	P29372	3MG_HUMAN			Q1W6H1_HUMAN,A2IDA3_HUMAN		4	671	+		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)	UPI000002A2C0	118					SNV	MPG,missense_variant,p.Arg113Gln,ENST00000356432,NM_001015052.2;MPG,missense_variant,p.Arg118Gln,ENST00000219431,NM_002434.3;MPG,missense_variant,p.Arg101Gln,ENST00000397817,NM_001015054.2;MPG,missense_variant,p.Arg101Gln,ENST00000436333,;NPRL3,downstream_gene_variant,,ENST00000399953,NM_001243247.1,NM_001243248.1,NM_001077350.2,NM_001243249.1;NPRL3,downstream_gene_variant,,ENST00000399951,NM_001039476.2;NPRL3,downstream_gene_variant,,ENST00000405960,;NPRL3,downstream_gene_variant,,ENST00000428323,;MPG,downstream_gene_variant,,ENST00000475280,;NPRL3,downstream_gene_variant,,ENST00000445810,;NPRL3,downstream_gene_variant,,ENST00000463178,;NPRL3,downstream_gene_variant,,ENST00000399957,;	uc002cfn.2	c.353G>A	584/1193	2	2			c.353G>A						16	SNP	c.(352-354)CGA>CAA	39	39			ovary(1)|skin(1)	2	Broad	N-methylpurine-DNA glycosylase isoform a	BER_DNA_glycosylases		133088		0.637	ENSG00000103152	9546	g.chr16:133088G>A	depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding							188.041687	KEEP	38	43	-1	113	118	38	43	-1	204.276155	113	118	0.251724	1	0	0	0	0	1	0	0	0	--	--		0	A			MPG_uc002cfm.2_Missense_Mutation_p.R101Q|MPG_uc010bqp.2_Missense_Mutation_p.R101Q|MPG_uc002cfo.2_Missense_Mutation_p.R113Q	43	GBM-06-0190-TP	p.R118Q	G	ACAGAACTCCGAGGCCGCATC	NM_002434	NP_002425	133088	P29372	3MG_HUMAN	0			4	671	+	A	A		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)	Missense_Mutation	118						
MPHOSPH8	0	broad.mit.edu	GRCh37	13	20233374	20233374	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-4208-01	TCGA-32-4208-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361479.5:c.1736A>G	p.Tyr579Cys	p.Y579C	ENST00000361479	NM_017520.3	579	tAt/tGt	0			1			G	Y/C	uc001umh.2	protein_coding	YES	CCDS9287.1			1736/2583										0	c.(1735-1737)TAT>TGT			Superfamily_domains:SSF48403,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR24188:SF6,hmmpanther:PTHR24188,PROSITE_profiles:PS50297	M-phase phosphoprotein 8				ENSP00000355388		14-Jul									COSM3399264,COSM3399265	14-Jul	.		ENST00000361479	Transcript			cell cycle	cytoplasm|nucleus		ENSG00000196199	g.chr13:20233374A>G	29810			MODERATE		1.255	low	getma.org/?cm=msa&ty=f&p=MPP8_HUMAN&rb=570&re=664&var=Y579C	getma.org/pdb.php?prot=MPP8_HUMAN&from=570&to=664&var=Y579C	getma.org/?cm=var&var=hg19,13,20233374,A,G&fts=all	Y579C	--	--	1																																		MPHOSPH8_uc001umg.2_Missense_Mutation_p.Y579C	1,1	1		probably_damaging(1)	p.Y579C	NM_017520	NP_059990		deleterious(0)	1,1	MPP8_HUMAN	MPHOSPH8	HGNC	Q99549	MPP8_HUMAN		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)			7	1745	+		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	UPI0000051C18	579					SNV	MPHOSPH8,missense_variant,p.Tyr579Cys,ENST00000361479,NM_017520.3;MPHOSPH8,missense_variant,p.Tyr579Cys,ENST00000414242,;MPHOSPH8,non_coding_transcript_exon_variant,,ENST00000467481,;	uc001umh.2	c.1736A>G	1804/4235	4	4			c.1736A>G						13	SNP	c.(1735-1737)TAT>TGT	30	30				0	Broad	M-phase phosphoprotein 8			20233374		0.284	ENSG00000196199	9549	g.chr13:20233374A>G	cell cycle	cytoplasm|nucleus								262.658189	KEEP	29	55	-1	56	59	29	55	-1	263.824578	56	59	0.410714	1	0	0	0	0	1	0	0	0	--	--		0	G			MPHOSPH8_uc001umg.2_Missense_Mutation_p.Y579C	243	GBM-32-4208-TP	p.Y579C	A	AATGGGGATTATATTACTGTA	NM_017520	NP_059990	20233374	Q99549	MPP8_HUMAN	0		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)	7	1745	+	G	G		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	Missense_Mutation	579						
MPHOSPH8	0	broad.mit.edu	GRCh37	13	20235946	20235946	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01	TCGA-76-4934-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361479.5:c.1900G>A	p.Gly634Arg	p.G634R	ENST00000361479	NM_017520.3	634	Ggg/Agg	0	A:0		1			A	G/R	uc001umh.2	protein_coding	YES	CCDS9287.1			1900/2583										0	c.(1900-1902)GGG>AGG			Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR24188:SF6,hmmpanther:PTHR24188,PROSITE_profiles:PS50297,PROSITE_profiles:PS50088	M-phase phosphoprotein 8			A:0.0001	ENSP00000355388		14-Aug	1.65E-05		8.65E-05			1.51E-05			rs376405101,COSM3399266,COSM3399267	14-Aug	.		ENST00000361479	Transcript			cell cycle	cytoplasm|nucleus		ENSG00000196199	g.chr13:20235946G>A	29810			MODERATE		2.565	medium	getma.org/?cm=msa&ty=f&p=MPP8_HUMAN&rb=570&re=664&var=G634R	getma.org/pdb.php?prot=MPP8_HUMAN&from=570&to=664&var=G634R	getma.org/?cm=var&var=hg19,13,20235946,G,A&fts=all	G634R	--	--	1																																		MPHOSPH8_uc001umg.2_Missense_Mutation_p.G634R	0,1,1	1		probably_damaging(1)	p.G634R	NM_017520	NP_059990		deleterious(0)	0,1,1	MPP8_HUMAN	MPHOSPH8	HGNC	Q99549	MPP8_HUMAN		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)			8	1909	+		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	UPI0000051C18	634			ANK 2.		SNV	MPHOSPH8,missense_variant,p.Gly634Arg,ENST00000361479,NM_017520.3;MPHOSPH8,missense_variant,p.Gly634Arg,ENST00000414242,;MPHOSPH8,downstream_gene_variant,,ENST00000467481,;	uc001umh.2	c.1900G>A	1968/4235	2	2			c.1900G>A						13	SNP	c.(1900-1902)GGG>AGG	19	19				0	Broad	M-phase phosphoprotein 8			20235946		0.552	ENSG00000196199	9549	g.chr13:20235946G>A	cell cycle	cytoplasm|nucleus								94.841221	KEEP	13	28	-1	64	73	13	28	-1	105.561754	64	73	0.227848	1	0	0	0	0	1	0	0	0	--	--		0	A			MPHOSPH8_uc001umg.2_Missense_Mutation_p.G634R	272	GBM-76-4934-TP	p.G634R	G	GCAGAAGAACGGGACCACCGC	NM_017520	NP_059990	20235946	Q99549	MPP8_HUMAN	0		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)	8	1909	+	A	A		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	Missense_Mutation	634			ANK 2.			
MPHOSPH9	0	broad.mit.edu	GRCh37	12	123687854	123687854	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2631-01	TCGA-19-2631-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000606320.1:c.1263C>T	p.Asn421=	p.N421=	ENST00000606320	NM_022782.3	421	aaC/aaT	0			1			A	N	uc001uel.2	protein_coding		CCDS9243.2			1263/3552										0	c.(805-807)AAC>AAT			hmmpanther:PTHR14926:SF1,hmmpanther:PTHR14926	M-phase phosphoprotein 9				ENSP00000475489		24-Sep									COSM3398483,COSM3398484	24-Sep	.		ENST00000606320	Transcript			M phase of mitotic cell cycle	centriole|Golgi membrane		ENSG00000051825	g.chr12:123687854G>A	7215			LOW								--	--	1																																		MPHOSPH9_uc010tal.1_5'UTR|MPHOSPH9_uc010tam.1_Intron|MPHOSPH9_uc001uem.2_5'UTR	1,1				p.N269N	NM_022782	NP_073619			1,1		MPHOSPH9	HGNC	Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	U3KQ28_HUMAN,F5H1W2_HUMAN,F5GZJ0_HUMAN		5	914	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		UPI00001FB90F	269					SNV	MPHOSPH9,synonymous_variant,p.=,ENST00000606320,NM_022782.3;MPHOSPH9,synonymous_variant,p.=,ENST00000541076,;MPHOSPH9,synonymous_variant,p.=,ENST00000392425,;MPHOSPH9,synonymous_variant,p.=,ENST00000302349,;MPHOSPH9,synonymous_variant,p.=,ENST00000539336,;MPHOSPH9,3_prime_UTR_variant,,ENST00000545556,;MPHOSPH9,intron_variant,,ENST00000539024,;MPHOSPH9,intron_variant,,ENST00000302373,;MPHOSPH9,upstream_gene_variant,,ENST00000606326,;	uc001uel.2	c.807C>T	1470/6351	2	2			c.807C>T						12	SNP	c.(805-807)AAC>AAT	33	33				0	Broad	M-phase phosphoprotein 9			123687854		0.373	ENSG00000051825	9550	g.chr12:123687854G>A	M phase of mitotic cell cycle	centriole|Golgi membrane								35.110819	KEEP	14	14	-1	85	91	14	14	-1	59.143891	85	91	0.137566	1	0	0	0	0	0	0	1	0	--	--		0	A			MPHOSPH9_uc010tal.1_5'UTR|MPHOSPH9_uc010tam.1_Intron|MPHOSPH9_uc001uem.2_5'UTR	167	GBM-19-2631-TP	p.N269N	G	GTAACTGCTTGTTTTCCCTTT	NM_022782	NP_073619	123687854	Q99550	MPP9_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	5	914	-	A	A	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Silent	269						
MPHOSPH9	10198		GRCh37	12	123661241	123661241	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000392425.3:c.1994G>A	p.Arg665His	p.R665H	ENST00000392425		665	cGt/cAt	0																																																																																																																																																																																																																																												
MPL	4352		GRCh37	1	43817970	43817970	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000372470.3:c.1649G>A	p.Ser550Asn	p.S550N	ENST00000372470	NM_005373.2	550	aGc/aAc	0																																																																																																																																																																																																																																												
MPL	4352		GRCh37	1	43812465	43812465	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000372470.3:c.1168C>T	p.Arg390Cys	p.R390C	ENST00000372470	NM_005373.2	390	Cgc/Tgc	0																																																																																																																																																																																																																																												
MPLKIP	0	broad.mit.edu	GRCh37	7	40172717	40172717	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-5213-01	TCGA-28-5213-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306984.6:c.481A>G	p.Ser161Gly	p.S161G	ENST00000306984	NM_138701.3	161	Agc/Ggc	0			1			C	S/G	uc003thl.3	protein_coding	YES	CCDS5463.1			481/540									breast(1)	1	c.(481-483)AGC>GGC		Direct_reversal_of_damage|Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Pfam_domain:PF15502,hmmpanther:PTHR22446	chromosome 7 open reading frame 11				ENSP00000304553		2-Feb									COSM3412035	2-Feb	.		ENST00000306984	Transcript	1		cell division|mitosis	microtubule organizing center|nucleus		ENSG00000168303	g.chr7:40172717T>C	16002			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=MPLKI_HUMAN&rb=1&re=179&var=S161G	NA	getma.org/?cm=var&var=hg19,7,40172717,T,C&fts=all	S161G	--	--	1																																		C7orf10_uc003thm.1_5'Flank|C7orf10_uc003thn.1_5'Flank|C7orf10_uc003tho.1_5'Flank	1	1		possibly_damaging(0.682)	p.S161G	NM_138701	NP_619646		deleterious(0.05)	1	MPLKI_HUMAN	MPLKIP	HGNC	Q8TAP9	TTDN1_HUMAN			A4D1W6_HUMAN		2	573	-			UPI0000034E29	161					SNV	MPLKIP,missense_variant,p.Ser161Gly,ENST00000306984,NM_138701.3;SUGCT,upstream_gene_variant,,ENST00000309930,NM_024728.2,NM_001193311.1;SUGCT,upstream_gene_variant,,ENST00000335693,NM_001193313.1;SUGCT,upstream_gene_variant,,ENST00000416370,;SUGCT,upstream_gene_variant,,ENST00000401647,NM_001193312.1;SUGCT,upstream_gene_variant,,ENST00000540834,;SUGCT,upstream_gene_variant,,ENST00000413931,;Y_RNA,upstream_gene_variant,,ENST00000362403,;SUGCT,upstream_gene_variant,,ENST00000444074,;	uc003thl.3	c.481A>G	573/7668	3	3			c.481A>G						7	SNP	c.(481-483)AGC>GGC	13	13			breast(1)	1	Broad	chromosome 7 open reading frame 11	Direct_reversal_of_damage|Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents		40172717		0.363	ENSG00000168303	2328	g.chr7:40172717T>C	cell division|mitosis	microtubule organizing center|nucleus								116.308667	KEEP	27	20	-1	129	106	27	20	-1	142.986295	129	106	0.171756	1	0	0	0	0	1	0	0	0	--	--		0	C			C7orf10_uc003thm.1_5'Flank|C7orf10_uc003thn.1_5'Flank|C7orf10_uc003tho.1_5'Flank	220	GBM-28-5213-TP	p.S161G	T	TATTGTTGGCTTATATCCACT	NM_138701	NP_619646	40172717	Q8TAP9	TTDN1_HUMAN	0			2	573	-	C	C			Missense_Mutation	161						
MPO	4353	broad.mit.edu	GRCh37	17	56355275	56355275	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01	TCGA-06-2558-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000225275.3:c.1117G>A	p.Gly373Ser	p.G373S	ENST00000225275	NM_000250.1	373	Ggc/Agc	0			1			T	G/S	uc002ivu.1	protein_coding	YES	CCDS11604.1			1117/2238									ovary(2)|large_intestine(1)|pancreas(1)	4	c.(1117-1119)GGC>AGC			PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF46,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113	myeloperoxidase	Cefdinir(DB00535)			ENSP00000225275		12-Jul	0.000124					0.000225			rs776994403,COSM2152595,COSM2152596	12-Jul	.		ENST00000225275	Transcript	1		anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	ENSG00000005381	g.chr17:56355275C>T	7218			MODERATE		3.07	medium	getma.org/?cm=msa&ty=f&p=PERM_HUMAN&rb=173&re=718&var=G373S	getma.org/pdb.php?prot=PERM_HUMAN&from=173&to=718&var=G373S	getma.org/?cm=var&var=hg19,17,56355275,C,T&fts=all	G373S	--	--	1																																			0,1,1	1		probably_damaging(0.968)	p.G373S	NM_000250	NP_000241		deleterious(0.02)	0,1,1	PERM_HUMAN	MPO	HGNC	P05164	PERM_HUMAN					7	1294	-			UPI0000131634	373					SNV	MPO,missense_variant,p.Gly405Ser,ENST00000340482,;MPO,missense_variant,p.Gly373Ser,ENST00000225275,NM_000250.1;MPO,upstream_gene_variant,,ENST00000577220,;MPO,non_coding_transcript_exon_variant,,ENST00000578493,;MPO,downstream_gene_variant,,ENST00000580005,;MPO,downstream_gene_variant,,ENST00000581022,;	uc002ivu.1	c.1117G>A	1294/3215	2	2			c.1117G>A						17	SNP	c.(1117-1119)GGC>AGC	36	36			ovary(2)|large_intestine(1)|pancreas(1)	4	Broad	myeloperoxidase		Cefdinir(DB00535)	56355275		0.652	ENSG00000005381	9554	g.chr17:56355275C>T	anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity							106.913663	KEEP	23	18	-1	31	28	23	18	-1	107.562349	31	28	0.406977	1	0	0	0	0	1	0	0	0	--	--		0	T				82	GBM-06-2558-TP	p.G373S	C	AGGGCCCGGCCGTTGTCTTGG	NM_000250	NP_000241	56355275	P05164	PERM_HUMAN	0			7	1294	-	T	T			Missense_Mutation	373						
MPP1	0	broad.mit.edu	GRCh37	X	154009984	154009984	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-19-1390-01	TCGA-19-1390-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369534.3:c.1040A>T	p.Glu347Val	p.E347V	ENST00000369534	NM_001166461.1	347	gAg/gTg	0			1			A	E/V	uc004fmp.1	protein_coding	YES	CCDS14762.1			1040/1401									ovary(2)|central_nervous_system(1)	3	c.(1039-1041)GAG>GTG			Gene3D:3.30.63.10,Pfam_domain:PF00625,PROSITE_profiles:PS50052,hmmpanther:PTHR23122,hmmpanther:PTHR23122:SF37,SMART_domains:SM00072,Superfamily_domains:SSF52540	palmitoylated membrane protein 1				ENSP00000358547		12-Oct									COSM3406171	12-Oct	.		ENST00000369534	Transcript			regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding	ENSG00000130830	g.chrX:154009984T>A	7219			MODERATE		3.59	high	getma.org/?cm=msa&ty=f&p=EM55_HUMAN&rb=281&re=453&var=E347V	getma.org/pdb.php?prot=EM55_HUMAN&from=281&to=453&var=E347V	getma.org/?cm=var&var=hg19,X,154009984,T,A&fts=all	E347V	--	--	1																																		MPP1_uc010nvg.1_Missense_Mutation_p.E327V|MPP1_uc011mzv.1_Missense_Mutation_p.E317V|MPP1_uc004fmq.1_Missense_Mutation_p.E301V|MPP1_uc011mzw.1_Missense_Mutation_p.E330V	1	1		possibly_damaging(0.487)	p.E347V	NM_002436	NP_002427		deleterious(0)	1	EM55_HUMAN	MPP1	HGNC	Q00013	EM55_HUMAN			A8MTH1_HUMAN		10	1155	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		UPI0000129E86	347			Guanylate kinase-like.|Interaction with MPP5.		SNV	MPP1,missense_variant,p.Glu317Val,ENST00000413259,NM_001166462.1;MPP1,missense_variant,p.Glu347Val,ENST00000369534,NM_001166461.1,NM_002436.3,NM_001166460.1;MPP1,missense_variant,p.Glu327Val,ENST00000393531,;DKC1,downstream_gene_variant,,ENST00000369550,NM_001363.3,NM_001142463.1;MPP1,downstream_gene_variant,,ENST00000393529,;MPP1,downstream_gene_variant,,ENST00000453245,;MPP1,downstream_gene_variant,,ENST00000428488,;MPP1,downstream_gene_variant,,ENST00000462825,;MPP1,downstream_gene_variant,,ENST00000488754,;MPP1,downstream_gene_variant,,ENST00000488694,;DKC1,downstream_gene_variant,,ENST00000492372,;MPP1,3_prime_UTR_variant,,ENST00000439370,;MPP1,non_coding_transcript_exon_variant,,ENST00000491955,;MPP1,upstream_gene_variant,,ENST00000482757,;MPP1,downstream_gene_variant,,ENST00000417435,;MPP1,downstream_gene_variant,,ENST00000494170,;MPP1,downstream_gene_variant,,ENST00000475943,;MPP1,downstream_gene_variant,,ENST00000493871,;	uc004fmp.1	c.1040A>T	1188/2042	2	2			c.1040A>T						23	SNP	c.(1039-1041)GAG>GTG	20	20			ovary(2)|central_nervous_system(1)	3	Broad	palmitoylated membrane protein 1			154009984		0.468	ENSG00000130830	9555	g.chrX:154009984T>A	regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding							-62.917872	KEEP	3	3	-1	159	148	3	3	-1	10.821093	159	148	0.020906	1	0	0	0	0	1	0	0	0	--	--		0	A			MPP1_uc010nvg.1_Missense_Mutation_p.E327V|MPP1_uc011mzv.1_Missense_Mutation_p.E317V|MPP1_uc004fmq.1_Missense_Mutation_p.E301V|MPP1_uc011mzw.1_Missense_Mutation_p.E330V	159	GBM-19-1390-TP	p.E347V	T	CTCCAAGAACTCATTGGCAGA	NM_002436	NP_002427	154009984	Q00013	EM55_HUMAN	0			10	1155	-	A	A	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		Missense_Mutation	347			Guanylate kinase-like.|Interaction with MPP5.			
MPP3	4356	broad.mit.edu	GRCh37	17	41898381	41898381	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01	TCGA-06-0166-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398389.4:c.730G>A	p.Ala244Thr	p.A244T	ENST00000398389	NM_001932.4	244	Gcc/Acc	0			1			T	A/T	uc002iei.3	protein_coding	YES	CCDS42344.1			730/1758									large_intestine(1)|skin(1)	2	c.(730-732)GCC>ACC			Gene3D:2.30.30.40,Pfam_domain:PF07653,PROSITE_profiles:PS50002,hmmpanther:PTHR23122,hmmpanther:PTHR23122:SF33,SMART_domains:SM00326,Superfamily_domains:SSF50044	palmitoylated membrane protein 3				ENSP00000381425		20-Nov									COSM2150166	20-Nov	.		ENST00000398389	Transcript			signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	ENSG00000161647	g.chr17:41898381C>T	7221			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=MPP3_HUMAN&rb=230&re=293&var=A244T	getma.org/pdb.php?prot=MPP3_HUMAN&from=230&to=293&var=A244T	getma.org/?cm=var&var=hg19,17,41898381,C,T&fts=all	A244T	--	--	1																																		MPP3_uc002ieh.2_Missense_Mutation_p.A269T|MPP3_uc002iej.2_RNA|MPP3_uc010czi.1_Missense_Mutation_p.A244T|MPP3_uc010wik.1_Missense_Mutation_p.A269T	1	1		probably_damaging(1)	p.A244T	NM_001932	NP_001923		tolerated(0.21)	1	MPP3_HUMAN	MPP3	HGNC	Q13368	MPP3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.119)			11	896	-		Breast(137;0.00394)	UPI0000167B23	244			SH3.		SNV	MPP3,missense_variant,p.Ala269Thr,ENST00000398393,;MPP3,missense_variant,p.Ala244Thr,ENST00000398389,NM_001932.4;MPP3,missense_variant,p.Ala244Thr,ENST00000496503,;MPP3,non_coding_transcript_exon_variant,,ENST00000589375,;MPP3,downstream_gene_variant,,ENST00000480958,;MPP3,upstream_gene_variant,,ENST00000479797,;	uc002iei.3	c.730G>A	896/2182	2	2			c.730G>A						17	SNP	c.(730-732)GCC>ACC	24	24			large_intestine(1)|skin(1)	2	Broad	palmitoylated membrane protein 3			41898381		0.677	ENSG00000161647	9557	g.chr17:41898381C>T	signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity							39.604398	KEEP	7	15	-1	23	27	7	15	-1	41.392086	23	27	0.3	1	0	0	0	0	1	0	0	0	--	--		0	T			MPP3_uc002ieh.2_Missense_Mutation_p.A269T|MPP3_uc002iej.2_RNA|MPP3_uc010czi.1_Missense_Mutation_p.A244T|MPP3_uc010wik.1_Missense_Mutation_p.A269T	31	GBM-06-0166-TP	p.A244T	C	CAAGGGATGGCCCGGTCCTCC	NM_001932	NP_001923	41898381	Q13368	MPP3_HUMAN	0		BRCA - Breast invasive adenocarcinoma(366;0.119)	11	896	-	T	T		Breast(137;0.00394)	Missense_Mutation	244			SH3.			
MPP4	58538	broad.mit.edu	GRCh37	2	202557686	202557686	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0195-01	TCGA-06-0195-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409474.3:c.146G>T	p.Gly49Val	p.G49V	ENST00000409474	NM_033066.2	49	gGa/gTa	0		A:0	1	A:0		A	G/V	uc002uyk.3	protein_coding	YES	CCDS46491.1			146/1914										0	c.(145-147)GGA>GTA			PROSITE_profiles:PS51022,hmmpanther:PTHR23122,hmmpanther:PTHR23122:SF34,SMART_domains:SM00569	membrane protein, palmitoylated 4		A:0		ENSP00000387278	A:0.003	22-Mar	0.000868				0.0106	0.000639			rs188975951,COSM3407489,COSM3407490,COSM3407488	22-Mar	common_variant		ENST00000409474	Transcript		A:0.0006		cytoplasm	protein binding	ENSG00000082126	g.chr2:202557686C>A	13680			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=MPP4_HUMAN&rb=24&re=80&var=G49V	NA	getma.org/?cm=var&var=hg19,2,202557686,C,A&fts=all	G49V	--	--	1																																		MPP4_uc010ftj.2_Missense_Mutation_p.G49V|MPP4_uc010zhq.1_Missense_Mutation_p.G49V|MPP4_uc010zhr.1_Missense_Mutation_p.G49V|MPP4_uc010zhs.1_Missense_Mutation_p.G49V|MPP4_uc002uyj.3_Missense_Mutation_p.G49V|MPP4_uc010zht.1_Missense_Mutation_p.G49V|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Missense_Mutation_p.G49V|MPP4_uc002uym.1_Missense_Mutation_p.G62V|MPP4_uc002uyn.2_Missense_Mutation_p.G49V	0,1,1,1	1		probably_damaging(0.996)	p.G49V	NM_033066	NP_149055	A:0	deleterious(0)	0,1,1,1	MPP4_HUMAN	MPP4	HGNC	Q96JB8	MPP4_HUMAN					3	354	-			UPI000050A341	49			L27 1.		SNV	MPP4,missense_variant,p.Gly49Val,ENST00000409474,NM_033066.2;MPP4,missense_variant,p.Gly49Val,ENST00000359962,;MPP4,missense_variant,p.Gly49Val,ENST00000315506,;MPP4,missense_variant,p.Gly49Val,ENST00000428900,;MPP4,missense_variant,p.Gly49Val,ENST00000396886,;MPP4,missense_variant,p.Gly49Val,ENST00000409143,;MPP4,missense_variant,p.Gly49Val,ENST00000447335,;MPP4,missense_variant,p.Gly62Val,ENST00000602867,;MPP4,missense_variant,p.Gly62Val,ENST00000409818,;MPP4,non_coding_transcript_exon_variant,,ENST00000486212,;MPP4,non_coding_transcript_exon_variant,,ENST00000483841,;	uc002uyk.3	c.146G>T	354/2462	1	1			c.146G>T						2	SNP	c.(145-147)GGA>GTA	57	57				0	Broad	membrane protein, palmitoylated 4			202557686		0.547	ENSG00000082126	9558	g.chr2:202557686C>A		cytoplasm	protein binding							27.041051	KEEP	9	4	0.307692308	4	13	9	4	0.307692308	27.440458	4	13	0.37037	1	0	0	0	0	1	0	0	0	--	--		0	A			MPP4_uc010ftj.2_Missense_Mutation_p.G49V|MPP4_uc010zhq.1_Missense_Mutation_p.G49V|MPP4_uc010zhr.1_Missense_Mutation_p.G49V|MPP4_uc010zhs.1_Missense_Mutation_p.G49V|MPP4_uc002uyj.3_Missense_Mutation_p.G49V|MPP4_uc010zht.1_Missense_Mutation_p.G49V|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Missense_Mutation_p.G49V|MPP4_uc002uym.1_Missense_Mutation_p.G62V|MPP4_uc002uyn.2_Missense_Mutation_p.G49V	45	GBM-06-0195-TP	p.G49V	C	GAGACACACTCCATTCACATC	NM_033066	NP_149055	202557686	Q96JB8	MPP4_HUMAN	0			3	354	-	A	A			Missense_Mutation	49			L27 1.			
MPP4	0	broad.mit.edu	GRCh37	2	202545627	202545627	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-81-5910-01	TCGA-81-5910-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409474.3:c.863A>C	p.Gln288Pro	p.Q288P	ENST00000409474	NM_033066.2	288	cAg/cCg	0			1			G	Q/P	uc002uyk.3	protein_coding	YES	CCDS46491.1			863/1914										0	c.(862-864)CAG>CCG			PROSITE_profiles:PS50002,hmmpanther:PTHR23122,hmmpanther:PTHR23122:SF34,Gene3D:2.30.30.40,Pfam_domain:PF00018,SMART_domains:SM00326,Superfamily_domains:SSF50044	membrane protein, palmitoylated 4				ENSP00000387278		22-Oct									COSM3407484,COSM3407485,COSM3407483	22-Oct	.		ENST00000409474	Transcript				cytoplasm	protein binding	ENSG00000082126	g.chr2:202545627T>G	13680			MODERATE		3.14	medium	getma.org/?cm=msa&ty=f&p=MPP4_HUMAN&rb=264&re=304&var=Q288P	getma.org/pdb.php?prot=MPP4_HUMAN&from=264&to=304&var=Q288P	getma.org/?cm=var&var=hg19,2,202545627,T,G&fts=all	Q288P	--	--	1																																OREG0015145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	MPP4_uc010ftj.2_Missense_Mutation_p.Q288P|MPP4_uc010zhq.1_Missense_Mutation_p.Q288P|MPP4_uc010zhr.1_Missense_Mutation_p.Q288P|MPP4_uc010zhs.1_Missense_Mutation_p.Q244P|MPP4_uc002uyj.3_Missense_Mutation_p.Q244P|MPP4_uc010zht.1_Missense_Mutation_p.Q261P|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Missense_Mutation_p.Q275P|MPP4_uc002uym.1_Missense_Mutation_p.Q257P|MPP4_uc002uyn.2_Missense_Mutation_p.Q244P	1,1,1	1		probably_damaging(0.999)	p.Q288P	NM_033066	NP_149055		deleterious(0)	1,1,1	MPP4_HUMAN	MPP4	HGNC	Q96JB8	MPP4_HUMAN					10	1071	-			UPI000050A341	288			SH3.		SNV	MPP4,missense_variant,p.Gln288Pro,ENST00000409474,NM_033066.2;MPP4,missense_variant,p.Gln288Pro,ENST00000359962,;MPP4,missense_variant,p.Gln275Pro,ENST00000315506,;MPP4,missense_variant,p.Gln288Pro,ENST00000428900,;MPP4,missense_variant,p.Gln244Pro,ENST00000396886,;MPP4,missense_variant,p.Gln261Pro,ENST00000409143,;MPP4,missense_variant,p.Gln288Pro,ENST00000447335,;MPP4,missense_variant,p.Gln301Pro,ENST00000409818,;MPP4,non_coding_transcript_exon_variant,,ENST00000486212,;MPP4,non_coding_transcript_exon_variant,,ENST00000483841,;	uc002uyk.3	c.863A>C	1071/2462	4	4			c.863A>C						2	SNP	c.(862-864)CAG>CCG	25	25				0	Broad	membrane protein, palmitoylated 4			202545627		0.582	ENSG00000082126	9558	g.chr2:202545627T>G		cytoplasm	protein binding							45.322934	KEEP	7	9	-1	5	9	7	9	-1	45.330328	5	9	0.517241	1	0	0	0	0	1	0	0	0	--	--		0	G	OREG0015145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	MPP4_uc010ftj.2_Missense_Mutation_p.Q288P|MPP4_uc010zhq.1_Missense_Mutation_p.Q288P|MPP4_uc010zhr.1_Missense_Mutation_p.Q288P|MPP4_uc010zhs.1_Missense_Mutation_p.Q244P|MPP4_uc002uyj.3_Missense_Mutation_p.Q244P|MPP4_uc010zht.1_Missense_Mutation_p.Q261P|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Missense_Mutation_p.Q275P|MPP4_uc002uym.1_Missense_Mutation_p.Q257P|MPP4_uc002uyn.2_Missense_Mutation_p.Q244P	289	GBM-81-5910-TP	p.Q288P	T	TTTTCGGGCCTGCCACCAGAG	NM_033066	NP_149055	202545627	Q96JB8	MPP4_HUMAN	0			10	1071	-	G	G			Missense_Mutation	288			SH3.			
MPP4	58538		GRCh37	2	202552079	202552079	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000409474.3:c.295C>T	p.Arg99Cys	p.R99C	ENST00000409474	NM_033066.2	99	Cgt/Tgt	0																																																																																																																																																																																																																																												
MPP6	0	broad.mit.edu	GRCh37	7	24727093	24727093	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6573-01	TCGA-74-6573-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222644.5:c.1483C>T	p.Arg495Trp	p.R495W	ENST00000222644		495	Cgg/Tgg	0			1			T	R/W	uc003swx.2	protein_coding	YES	CCDS5388.1			1483/1623										0	c.(1483-1485)CGG>TGG			Superfamily_domains:SSF52540,SMART_domains:SM00072,Gene3D:3.40.50.300,Pfam_domain:PF00625,hmmpanther:PTHR23122:SF36,hmmpanther:PTHR23122,PROSITE_profiles:PS50052	membrane protein, palmitoylated 6				ENSP00000222644		12-Dec									COSM3411947	12-Dec	.		ENST00000222644	Transcript			protein complex assembly		protein binding	ENSG00000105926	g.chr7:24727093C>T	18167			MODERATE		2.61	medium	getma.org/?cm=msa&ty=f&p=MPP6_HUMAN&rb=337&re=527&var=R495W	getma.org/pdb.php?prot=MPP6_HUMAN&from=337&to=527&var=R495W	getma.org/?cm=var&var=hg19,7,24727093,C,T&fts=all	R495W	--	--	1																																		MPP6_uc003swy.2_Missense_Mutation_p.R495W|MPP6_uc010kur.2_Missense_Mutation_p.R163W	1	1		probably_damaging(0.973)	p.R495W	NM_016447	NP_057531		deleterious(0.01)	1	MPP6_HUMAN	MPP6	HGNC	Q9NZW5	MPP6_HUMAN			C9JGI8_HUMAN,C9J4Q3_HUMAN,B8ZZG1_HUMAN		13	1782	+			UPI0000001C1B	495			Guanylate kinase-like.		SNV	MPP6,missense_variant,p.Arg495Trp,ENST00000222644,;MPP6,missense_variant,p.Arg495Trp,ENST00000396475,NM_016447.2;MPP6,missense_variant,p.Arg383Trp,ENST00000409761,;MPP6,3_prime_UTR_variant,,ENST00000464384,;	uc003swx.2	c.1483C>T	1733/8452	1	1			c.1483C>T						7	SNP	c.(1483-1485)CGG>TGG	2	2				0	Broad	membrane protein, palmitoylated 6			24727093		0.348	ENSG00000105926	9560	g.chr7:24727093C>T	protein complex assembly		protein binding							53.106666	KEEP	16	17	-1	84	89	16	17	-1	73.595828	84	89	0.163158	1	0	0	0	0	1	0	0	0	--	--		0	T			MPP6_uc003swy.2_Missense_Mutation_p.R495W|MPP6_uc010kur.2_Missense_Mutation_p.R163W	260	GBM-74-6573-TP	p.R495W	C	TGAAAGTGCACGGATTCAGAG	NM_016447	NP_057531	24727093	Q9NZW5	MPP6_HUMAN	0			13	1782	+	T	T			Missense_Mutation	495			Guanylate kinase-like.			
MPP7	0	broad.mit.edu	GRCh37	10	28345469	28345469	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-27-1833-01	TCGA-27-1833-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337532.5:c.1491A>G	p.Thr497=	p.T497=	ENST00000337532	NM_173496.3	497	acA/acG	0			1			C	T	uc001iua.1	protein_coding	YES	CCDS7158.1			1491/1731									ovary(1)	1	c.(1489-1491)ACA>ACG			PROSITE_profiles:PS50052,hmmpanther:PTHR23122:SF39,hmmpanther:PTHR23122,Pfam_domain:PF00625,Gene3D:3.40.50.300,SMART_domains:SM00072,Superfamily_domains:SSF52540	palmitoylated membrane protein 7				ENSP00000337907		17/18									COSM3397084	17/18	.		ENST00000337532	Transcript			establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	ENSG00000150054	g.chr10:28345469T>C	26542			LOW								--	--	1																																		MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Silent_p.T497T|MPP7_uc009xla.2_Silent_p.T497T|MPP7_uc010qdv.1_RNA	1	1			p.T497T	NM_173496	NP_775767			1	MPP7_HUMAN	MPP7	HGNC	Q5T2T1	MPP7_HUMAN					18	1895	-			UPI00000558E1	497			Guanylate kinase-like.		SNV	MPP7,synonymous_variant,p.=,ENST00000337532,NM_173496.3;MPP7,synonymous_variant,p.=,ENST00000375732,;MPP7,synonymous_variant,p.=,ENST00000540098,;MPP7,synonymous_variant,p.=,ENST00000375719,;MPP7,synonymous_variant,p.=,ENST00000441595,;MPP7,downstream_gene_variant,,ENST00000445954,;MPP7,3_prime_UTR_variant,,ENST00000496637,;	uc001iua.1	c.1491A>G	1768/5080	3	3			c.1491A>G						10	SNP	c.(1489-1491)ACA>ACG	9	9			ovary(1)	1	Broad	palmitoylated membrane protein 7			28345469		0.333	ENSG00000150054	9561	g.chr10:28345469T>C	establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity							91.190981	KEEP	24	20	-1	87	83	24	20	-1	106.320657	87	83	0.208333	1	0	0	0	0	0	0	1	0	--	--		0	C			MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Silent_p.T497T|MPP7_uc009xla.2_Silent_p.T497T|MPP7_uc010qdv.1_RNA	192	GBM-27-1833-TP	p.T497T	T	CATTTTTTCTTGTTTCTCTCA	NM_173496	NP_775767	28345469	Q5T2T1	MPP7_HUMAN	0			18	1895	-	C	C			Silent	497			Guanylate kinase-like.			
MPPED1	0	broad.mit.edu	GRCh37	22	43831125	43831125	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2615-01	TCGA-32-2615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000417669.2:c.396C>T	p.Asn132=	p.N132=	ENST00000417669		132	aaC/aaT	0	T:0.0003		1			T	N	uc011apv.1	protein_coding	YES	CCDS46723.1			396/981										0	c.(394-396)AAC>AAT			Gene3D:3.60.21.10,Pfam_domain:PF00149,PIRSF_domain:PIRSF035808,hmmpanther:PTHR12905,hmmpanther:PTHR12905:SF9,Superfamily_domains:SSF56300	metallophosphoesterase domain containing 1			T:0	ENSP00000388137		7-Mar	8.27E-06	0.000112							rs368415701,COSM1416689,COSM3405705	7-Mar	.		ENST00000417669	Transcript					hydrolase activity	ENSG00000186732	g.chr22:43831125C>T	1306			LOW								--	--	1																																		MPPED1_uc011apw.1_Silent_p.N26N|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Silent_p.N132N|MPPED1_uc011apz.1_Silent_p.N165N	0,1,1	1			p.N132N	NM_001044370	NP_001037835			0,1,1	MPPD1_HUMAN	MPPED1	HGNC	O15442	MPPD1_HUMAN			Q20WK9_HUMAN,F5H6C9_HUMAN,B4DS06_HUMAN,B1AH63_HUMAN,B1AH62_HUMAN		3	619	+		all_neural(38;0.0244)|Ovarian(80;0.0694)	UPI000006DF41	132					SNV	MPPED1,synonymous_variant,p.=,ENST00000417669,;MPPED1,synonymous_variant,p.=,ENST00000443721,NM_001044370.1;MPPED1,synonymous_variant,p.=,ENST00000538182,;MPPED1,synonymous_variant,p.=,ENST00000542779,;MPPED1,synonymous_variant,p.=,ENST00000414469,;MPPED1,intron_variant,,ENST00000439548,;MPPED1,downstream_gene_variant,,ENST00000334209,;	uc011apv.1	c.396C>T	840/3657	2	2			c.396C>T						22	SNP	c.(394-396)AAC>AAT	22	22				0	Broad	metallophosphoesterase domain containing 1			43831125		0.682	ENSG00000186732	9563	g.chr22:43831125C>T			hydrolase activity							55.6817	KEEP	9	9	-1	7	4	9	9	-1	56.08069	7	4	0.62963	1	0	0	0	0	0	0	1	0	--	--		0	T			MPPED1_uc011apw.1_Silent_p.N26N|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Silent_p.N132N|MPPED1_uc011apz.1_Silent_p.N165N	239	GBM-32-2615-TP	p.N132N	C	AGAAGTTCAACGAGTGGCTGG	NM_001044370	NP_001037835	43831125	O15442	MPPD1_HUMAN	0			3	619	+	T	T		all_neural(38;0.0244)|Ovarian(80;0.0694)	Silent	132						
MPZL1	0	broad.mit.edu	GRCh37	1	167734984	167734984	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G			TCGA-32-4210-01	TCGA-32-4210-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359523.2:c.256T>G	p.Ser86Ala	p.S86A	ENST00000359523	NM_024569.4	86	Tcg/Gcg	0			1			G	S/A	uc001geo.2	protein_coding	YES	CCDS1264.1			256/810									ovary(2)	2	c.(256-258)TCG>GCG			Gene3D:2.60.40.10,Pfam_domain:PF07686,Prints_domain:PR00213,PROSITE_profiles:PS50835,hmmpanther:PTHR13869,hmmpanther:PTHR13869:SF19,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726	myelin protein zero-like 1 isoform a				ENSP00000352513		6-Feb									COSM3399960	6-Feb	.		ENST00000359523	Transcript			cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity	ENSG00000197965	g.chr1:167734984T>G	7226			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=MPZL1_HUMAN&rb=37&re=154&var=S86A	getma.org/pdb.php?prot=MPZL1_HUMAN&from=37&to=154&var=S86A	getma.org/?cm=var&var=hg19,1,167734984,T,G&fts=all	S86A	--	--	1																																		MPZL1_uc001gen.3_Missense_Mutation_p.S86A|MPZL1_uc001gep.2_Missense_Mutation_p.S86A|MPZL1_uc001geq.2_Missense_Mutation_p.S86A|MPZL1_uc009wvh.2_RNA	1	1		benign(0.179)	p.S86A	NM_003953	NP_003944		tolerated(0.13)	1	MPZL1_HUMAN	MPZL1	HGNC	O95297	MPZL1_HUMAN			A8K5D4_HUMAN		2	458	+	all_hematologic(923;0.215)		UPI000004BA6A	86			Extracellular (Potential).|Ig-like V-type.		SNV	MPZL1,missense_variant,p.Ser86Ala,ENST00000359523,NM_024569.4,NM_003953.5;MPZL1,missense_variant,p.Ser86Ala,ENST00000392121,NM_001146191.1;MPZL1,missense_variant,p.Ser60Ala,ENST00000367853,;MPZL1,missense_variant,p.Ser86Ala,ENST00000474859,;MPZL1,missense_variant,p.Ser86Ala,ENST00000448405,;MPZL1,splice_region_variant,,ENST00000474729,;MPZL1,splice_region_variant,,ENST00000465787,;MPZL1,non_coding_transcript_exon_variant,,ENST00000464954,;	uc001geo.2	c.256T>G	458/5010	4	4			c.256T>G						1	SNP	c.(256-258)TCG>GCG	21	21			ovary(2)	2	Broad	myelin protein zero-like 1 isoform a			167734984		0.483	ENSG00000197965	9571	g.chr1:167734984T>G	cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity							-15.960172	KEEP	3	1	-1	46	79	3	1	-1	7.421628	46	79	0.030928	1	0	0	0	0	1	0	0	0	--	--		0	G			MPZL1_uc001gen.3_Missense_Mutation_p.S86A|MPZL1_uc001gep.2_Missense_Mutation_p.S86A|MPZL1_uc001geq.2_Missense_Mutation_p.S86A|MPZL1_uc009wvh.2_RNA	245	GBM-32-4210-TP	p.S86A	T	CACTACTGTGTCGGTAAGAAT	NM_003953	NP_003944	167734984	O95297	MPZL1_HUMAN	0			2	458	+	G	G	all_hematologic(923;0.215)		Missense_Mutation	86			Extracellular (Potential).|Ig-like V-type.			
MPZL1	9019		GRCh37	1	167757139	167757139	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000359523.2:c.791C>T	p.Ala264Val	p.A264V	ENST00000359523	NM_024569.4	264	gCg/gTg	0																																																																																																																																																																																																																																												
MPZL2	10205	broad.mit.edu	GRCh37	11	118130818	118130818	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278937.2:c.535C>T	p.Arg179Trp	p.R179W	ENST00000278937	NM_005797.3	179	Cgg/Tgg	0		A:0	1	A:0.0029		A	R/W	uc001psn.2	protein_coding	YES	CCDS8393.1			535/648									skin(1)	1	c.(535-537)CGG>TGG			hmmpanther:PTHR13869,hmmpanther:PTHR13869:SF21	myelin protein zero-like 2 precursor		A:0		ENSP00000278937	A:0	6-Apr	2.47E-05		0.000173			1.50E-05			rs562108254,COSM2149750	6-Apr	.		ENST00000278937	Transcript		A:0.0004	anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane		ENSG00000149573	g.chr11:118130818G>A	3496			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=MPZL2_HUMAN&rb=161&re=213&var=R179W	NA	getma.org/?cm=var&var=hg19,11,118130818,G,A&fts=all	R179W	--	--	1																																		MPZL2_uc001pso.2_Missense_Mutation_p.R179W|MPZL2_uc001psp.1_Missense_Mutation_p.R179W	0,1	1		benign(0.234)	p.R179W	NM_005797	NP_005788	A:0	deleterious(0.01)	0,1	MPZL2_HUMAN	MPZL2	HGNC	O60487	MPZL2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)			4	676	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	UPI000004781C	179			Cytoplasmic (Potential).		SNV	MPZL2,missense_variant,p.Arg179Trp,ENST00000278937,NM_005797.3;MPZL2,missense_variant,p.Arg179Trp,ENST00000438295,NM_144765.2;MPZL2,downstream_gene_variant,,ENST00000525647,;MPZL2,non_coding_transcript_exon_variant,,ENST00000529376,;MPZL2,non_coding_transcript_exon_variant,,ENST00000534175,;MPZL2,downstream_gene_variant,,ENST00000527282,;MPZL2,upstream_gene_variant,,ENST00000528554,;	uc001psn.2	c.535C>T	664/2620	2	2			c.535C>T						11	SNP	c.(535-537)CGG>TGG	46	46			skin(1)	1	Broad	myelin protein zero-like 2 precursor			118130818		0.478	ENSG00000149573	9572	g.chr11:118130818G>A	anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane								412.559696	KEEP	77	62	-1	141	116	77	62	-1	418.563238	141	116	0.362117	1	0	0	0	0	1	0	0	0	--	--		0	A			MPZL2_uc001pso.2_Missense_Mutation_p.R179W|MPZL2_uc001psp.1_Missense_Mutation_p.R179W	23	GBM-06-0145-TP	p.R179W	G	CGCTTTTTCCGGTAATGCTGG	NM_005797	NP_005788	118130818	O60487	MPZL2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	4	676	-	A	A	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	Missense_Mutation	179			Cytoplasmic (Potential).			
MPZL2	0	broad.mit.edu	GRCh37	11	118133277	118133277	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5960-01	TCGA-19-5960-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278937.2:c.312C>T	p.Tyr104=	p.Y104=	ENST00000278937	NM_005797.3	104	taC/taT	0			1			A	Y	uc001psn.2	protein_coding	YES	CCDS8393.1			312/648									skin(1)	1	c.(310-312)TAC>TAT			PROSITE_profiles:PS50835,hmmpanther:PTHR13869,hmmpanther:PTHR13869:SF21,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726,Prints_domain:PR00213	myelin protein zero-like 2 precursor				ENSP00000278937		6-Mar	8.24E-06							6.07E-05	rs749611973,COSM3397442	6-Mar	.		ENST00000278937	Transcript			anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane		ENSG00000149573	g.chr11:118133277G>A	3496			LOW								--	--	1																																		MPZL2_uc001pso.2_Silent_p.Y104Y|MPZL2_uc001psp.1_Silent_p.Y104Y	0,1	1			p.Y104Y	NM_005797	NP_005788			0,1	MPZL2_HUMAN	MPZL2	HGNC	O60487	MPZL2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)			3	453	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	UPI000004781C	104			Extracellular (Potential).|Ig-like V-type.		SNV	MPZL2,synonymous_variant,p.=,ENST00000278937,NM_005797.3;MPZL2,synonymous_variant,p.=,ENST00000438295,NM_144765.2;MPZL2,downstream_gene_variant,,ENST00000525647,;MPZL2,non_coding_transcript_exon_variant,,ENST00000529376,;MPZL2,non_coding_transcript_exon_variant,,ENST00000534175,;MPZL2,non_coding_transcript_exon_variant,,ENST00000527282,;MPZL2,upstream_gene_variant,,ENST00000528554,;	uc001psn.2	c.312C>T	441/2620	2	2			c.312C>T						11	SNP	c.(310-312)TAC>TAT	17	17			skin(1)	1	Broad	myelin protein zero-like 2 precursor			118133277		0.527	ENSG00000149573	9572	g.chr11:118133277G>A	anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane								65.541344	KEEP	7	16	-1	15	18	7	16	-1	65.750876	15	18	0.431373	1	0	0	0	0	0	0	1	0	--	--		0	A			MPZL2_uc001pso.2_Silent_p.Y104Y|MPZL2_uc001psp.1_Silent_p.Y104Y	178	GBM-19-5960-TP	p.Y104Y	G	TGGAGGCATCGTACCGCTCAG	NM_005797	NP_005788	118133277	O60487	MPZL2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	3	453	-	A	A	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	Silent	104			Extracellular (Potential).|Ig-like V-type.			
MRAP2	112609	broad.mit.edu	GRCh37	6	84799086	84799086	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0213-01	TCGA-06-0213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257776.4:c.504C>A	p.Asn168Lys	p.N168K	ENST00000257776	NM_138409.2	168	aaC/aaA	0			1			A	N/K	uc003pkg.3	protein_coding	YES	CCDS5001.1			504/618									skin(2)	2	c.(502-504)AAC>AAA				melanocortin 2 receptor accessory protein 2				ENSP00000257776		4-Apr									COSM2150833	4-Apr	.		ENST00000257776	Transcript			positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding	ENSG00000135324	g.chr6:84799086C>A	21232			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=MRAP2_HUMAN&rb=1&re=203&var=N168K	NA	getma.org/?cm=var&var=hg19,6,84799086,C,A&fts=all	N168K	--	--	1																																		MRAP2_uc010kbo.2_Missense_Mutation_p.N82K	1	1		probably_damaging(0.997)	p.N168K	NM_138409	NP_612418		deleterious(0)	1	MRAP2_HUMAN	MRAP2	HGNC	Q96G30	MRAP2_HUMAN					4	694	+			UPI0000074376	168					SNV	MRAP2,missense_variant,p.Asn168Lys,ENST00000257776,NM_138409.2;	uc003pkg.3	c.504C>A	639/2153	2	2			c.504C>A						6	SNP	c.(502-504)AAC>AAA	30	30			skin(2)	2	Broad	melanocortin 2 receptor accessory protein 2			84799086		0.502	ENSG00000135324	9576	g.chr6:84799086C>A	positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding							87.347403	KEEP	14	24	0.631578947	53	61	14	24	0.631578947	94.961101	53	61	0.253623	1	0	0	0	0	1	0	0	0	--	--		0	A			MRAP2_uc010kbo.2_Missense_Mutation_p.N82K	49	GBM-06-0213-TP	p.N168K	C	ACATCCCCAACTTTGTGAACA	NM_138409	NP_612418	84799086	Q96G30	MRAP2_HUMAN	0			4	694	+	A	A			Missense_Mutation	168						
MRC2	0	broad.mit.edu	GRCh37	17	60758249	60758249	+	synonymous_variant	Silent	SNP	G	G	A	rs150592174		TCGA-16-1045-01	TCGA-16-1045-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303375.5:c.2562G>A	p.Thr854=	p.T854=	ENST00000303375	NM_006039.4	854	acG/acA	0	A:0.0005		1			A	T	uc002jad.2	protein_coding	YES	CCDS11634.1			2562/4440									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(2560-2562)ACG>ACA			PROSITE_profiles:PS50041,hmmpanther:PTHR22803:SF69,hmmpanther:PTHR22803,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	mannose receptor, C type 2			A:0	ENSP00000307513		17/30	3.30E-05	0.000319				1.59E-05			rs150592174,COSM3403085	17/30	.		ENST00000303375	Transcript			endocytosis	integral to membrane	receptor activity|sugar binding	ENSG00000011028	g.chr17:60758249G>A	16875			LOW								--	--	1																																		MRC2_uc002jae.2_Translation_Start_Site|MRC2_uc002jaf.2_5'Flank	0,1	1			p.T854T	NM_006039	NP_006030			0,1	MRC2_HUMAN	MRC2	HGNC	Q9UBG0	MRC2_HUMAN			J3QQZ6_HUMAN		17	2964	+			UPI000013E895	854			Extracellular (Potential).|C-type lectin 5.		SNV	MRC2,synonymous_variant,p.=,ENST00000303375,NM_006039.4;MRC2,upstream_gene_variant,,ENST00000446119,;MRC2,upstream_gene_variant,,ENST00000579432,;RNU6-446P,upstream_gene_variant,,ENST00000362827,;MRC2,non_coding_transcript_exon_variant,,ENST00000583597,;MRC2,downstream_gene_variant,,ENST00000584265,;MRC2,downstream_gene_variant,,ENST00000584682,;	uc002jad.2	c.2562G>A	2964/5988	2	2			c.2562G>A						17	SNP	c.(2560-2562)ACG>ACA	36	36			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	mannose receptor, C type 2			60758249		0.637	ENSG00000011028	9578	g.chr17:60758249G>A	endocytosis	integral to membrane	receptor activity|sugar binding							46.287984	KEEP	10	8	-1	17	12	10	8	-1	46.906303	17	12	0.372093	1	0	0	0	0	0	0	1	0	--	--		0	A			MRC2_uc002jae.2_Translation_Start_Site|MRC2_uc002jaf.2_5'Flank	157	GBM-16-1045-TP	p.T854T	G	GCATCTGCACGTGGTTCCAGG	NM_006039	NP_006030	60758249	Q9UBG0	MRC2_HUMAN	0			17	2964	+	A	A			Silent	854			Extracellular (Potential).|C-type lectin 5.			
MRE11A	0	broad.mit.edu	GRCh37	11	94192689	94192689	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0686-01	TCGA-06-0686-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323929.3:c.1385T>A	p.Val462Glu	p.V462E	ENST00000323929	NM_005591.3	462	gTg/gAg	0			1			T	V/E	uc001peu.2	protein_coding	YES	CCDS8299.1			1385/2127									breast(4)|lung(1)	5	c.(1384-1386)GTG>GAG		Homologous_recombination	PIRSF_domain:PIRSF000882,hmmpanther:PTHR10139	meiotic recombination 11 homolog A isoform 1				ENSP00000325863		13/20									COSM3398219,COSM3398218	13/20	.	Ataxia-Telangiectasia-Like_Disorder	ENST00000323929	Transcript	1		DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity	ENSG00000020922	g.chr11:94192689A>T	7230			MODERATE		2.395	medium	getma.org/?cm=msa&ty=f&p=MRE11_HUMAN&rb=462&re=497&var=V462E	NA	getma.org/?cm=var&var=hg19,11,94192689,A,T&fts=all	V462E	--	--	1																																		MRE11A_uc001pev.2_Missense_Mutation_p.V462E|MRE11A_uc009ywj.2_Missense_Mutation_p.V465E	1,1	1		probably_damaging(0.996)	p.V462E	NM_005591	NP_005582		deleterious(0)	1,1	MRE11_HUMAN	MRE11A	HGNC	P49959	MRE11_HUMAN			Q9BS79_HUMAN,F5H742_HUMAN,F5H256_HUMAN		13	1574	-		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)	UPI000012F4D3	462					SNV	MRE11A,missense_variant,p.Val462Glu,ENST00000323929,NM_005591.3;MRE11A,missense_variant,p.Val465Glu,ENST00000407439,;MRE11A,missense_variant,p.Val462Glu,ENST00000393241,;MRE11A,missense_variant,p.Val462Glu,ENST00000323977,NM_005590.3;	uc001peu.2	c.1385T>A	1608/2746	2	2			c.1385T>A						11	SNP	c.(1384-1386)GTG>GAG	33	33			breast(4)|lung(1)	5	Broad	meiotic recombination 11 homolog A isoform 1	Homologous_recombination		94192689	Ataxia-Telangiectasia-Like_Disorder	0.398	ENSG00000020922	9579	g.chr11:94192689A>T	DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			377			377	-5.896609	KEEP	4	1	-1	45	43	4	1	-1	11.70434	45	43	0.05814	1	0	0	0	0	1	0	0	0	--	--		0	T			MRE11A_uc001pev.2_Missense_Mutation_p.V462E|MRE11A_uc009ywj.2_Missense_Mutation_p.V465E	64	GBM-06-0686-TP	p.V462E	A	CTCCTTGTCCACAAATTCTTG	NM_005591	NP_005582	94192689	P49959	MRE11_HUMAN	0			13	1574	-	T	T		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)	Missense_Mutation	462						
MRGBP	0	broad.mit.edu	GRCh37	20	61430922	61430922	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01	TCGA-12-1597-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370487.3:c.542G>A	p.Arg181Gln	p.R181Q	ENST00000370487	NM_018270.4	181	cGg/cAg	0			1			A	R/Q	uc002ydi.2	protein_coding	YES	CCDS13503.1			542/615										0	c.(541-543)CGG>CAG			hmmpanther:PTHR13581,hmmpanther:PTHR13581:SF4	MRG-binding protein				ENSP00000359518		5-May									COSM3405265	5-May	.		ENST00000370487	Transcript			chromatin modification|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	H4/H2A histone acetyltransferase complex		ENSG00000101189	g.chr20:61430922G>A	15866			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=MRGBP_HUMAN&rb=115&re=204&var=R181Q	NA	getma.org/?cm=var&var=hg19,20,61430922,G,A&fts=all	R181Q	--	--	1																																			1	1		probably_damaging(0.953)	p.R181Q	NM_018270	NP_060740		deleterious(0.03)	1	MRGBP_HUMAN	MRGBP	HGNC	Q9NV56	MRGBP_HUMAN			A8C4L5_HUMAN		5	613	+	Breast(26;3.65e-08)		UPI0000049FC0	181					SNV	MRGBP,missense_variant,p.Arg181Gln,ENST00000370487,NM_018270.4;OGFR-AS1,downstream_gene_variant,,ENST00000431361,;	uc002ydi.2	c.542G>A	613/1636	2	2			c.542G>A						20	SNP	c.(541-543)CGG>CAG	25	25				0	Broad	MRG-binding protein			61430922		0.582	ENSG00000101189	2060	g.chr20:61430922G>A	chromatin modification|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	H4/H2A histone acetyltransferase complex								117.682159	KEEP	23	31	-1	96	136	23	31	-1	139.58724	96	136	0.194444	1	0	0	0	0	1	0	0	0	--	--		0	A				124	GBM-12-1597-TP	p.R181Q	G	AAGCGCAGCCGGGTCACCGAC	NM_018270	NP_060740	61430922	Q9NV56	MRGBP_HUMAN	0			5	613	+	A	A	Breast(26;3.65e-08)		Missense_Mutation	181						
MRGPRE	116534	broad.mit.edu	GRCh37	11	3249621	3249621	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0875-01	TCGA-06-0875-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000436689.2:c.406C>T	p.Arg136Cys	p.R136C	ENST00000436689	NM_001039165.2	136	Cgc/Tgc	0			1			A	R/C	uc001lxq.3	protein_coding		CCDS41603.2			409/939									large_intestine(1)|ovary(1)	2	c.(406-408)CGC>TGC			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR11334:SF26,hmmpanther:PTHR11334,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR02108	MAS-related GPR, member E				ENSP00000374482		2-Feb	8.30E-06		0.00028						rs768186461,COSM687517	2-Feb	.		ENST00000389832	Transcript				integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000184350	g.chr11:3249621G>A	30694			MODERATE		2.15	medium	getma.org/?cm=msa&ty=f&p=MRGRE_HUMAN&rb=40&re=203&var=R136C	NA	getma.org/?cm=var&var=hg19,11,3249621,G,A&fts=all	R136C	--	--	1																																			0,1			probably_damaging(0.983)	p.R136C	NM_001039165	NP_001034254		deleterious(0)	0,1		MRGPRE	HGNC	Q86SM8	MRGRE_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)			2	716	-		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	UPI000015F138	136			Cytoplasmic (Potential).		SNV	MRGPRE,missense_variant,p.Arg137Cys,ENST00000389832,;MRGPRE,missense_variant,p.Arg136Cys,ENST00000436689,NM_001039165.2;AC109309.4,intron_variant,,ENST00000418995,;	uc001lxq.3	c.406C>T	716/1409	2	2			c.406C>T						11	SNP	c.(406-408)CGC>TGC	42	42			large_intestine(1)|ovary(1)	2	Broad	MAS-related GPR, member E			3249621		0.692	ENSG00000184350	9584	g.chr11:3249621G>A		integral to membrane|plasma membrane	G-protein coupled receptor activity							14.67297	KEEP	2	6	-1	6	1	2	6	-1	14.745661	6	1	0.416667	1	0	0	0	0	1	0	0	0	--	--		0	A				71	GBM-06-0875-TP	p.R136C	G	GTCAGGTGGCGTGGGCGGCGG	NM_001039165	NP_001034254	3249621	Q86SM8	MRGRE_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	716	-	A	A		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	Missense_Mutation	136			Cytoplasmic (Potential).			
MRGPRE	116534	broad.mit.edu	GRCh37	11	3249728	3249728	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000436689.2:c.299C>T	p.Thr100Met	p.T100M	ENST00000436689	NM_001039165.2	100	aCg/aTg	0	A:0.0005		1			A	T/M	uc001lxq.3	protein_coding		CCDS41603.2			302/939									large_intestine(1)|ovary(1)	2	c.(298-300)ACG>ATG			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR11334:SF26,hmmpanther:PTHR11334,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	MAS-related GPR, member E			A:0	ENSP00000374482		2-Feb	4.12E-05	0.000214				4.60E-05			rs372934659,COSM240727	2-Feb	.		ENST00000389832	Transcript				integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000184350	g.chr11:3249728G>A	30694			MODERATE		-0.97	neutral	getma.org/?cm=msa&ty=f&p=MRGRE_HUMAN&rb=40&re=203&var=T100M	NA	getma.org/?cm=var&var=hg19,11,3249728,G,A&fts=all	T100M	--	--	1																																			0,1			benign(0.091)	p.T100M	NM_001039165	NP_001034254		tolerated(0.17)	0,1		MRGPRE	HGNC	Q86SM8	MRGRE_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)			2	609	-		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	UPI000015F138	100			Extracellular (Potential).		SNV	MRGPRE,missense_variant,p.Thr101Met,ENST00000389832,;MRGPRE,missense_variant,p.Thr100Met,ENST00000436689,NM_001039165.2;AC109309.4,intron_variant,,ENST00000418995,;	uc001lxq.3	c.299C>T	609/1409	2	2			c.299C>T						11	SNP	c.(298-300)ACG>ATG	36	36			large_intestine(1)|ovary(1)	2	Broad	MAS-related GPR, member E			3249728		0.662	ENSG00000184350	9584	g.chr11:3249728G>A		integral to membrane|plasma membrane	G-protein coupled receptor activity							142.966802	KEEP	21	24	-1	6	9	21	24	-1	146.058145	6	9	0.741379	1	0	0	0	0	1	0	0	0	--	--		0	A				102	GBM-06-5858-TP	p.T100M	G	GAAGCGCAGCGTTGCCAGGCT	NM_001039165	NP_001034254	3249728	Q86SM8	MRGRE_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	609	-	A	A		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	Missense_Mutation	100			Extracellular (Potential).			
MRGPRE	0	broad.mit.edu	GRCh37	11	3249597	3249597	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01	TCGA-12-1597-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389832.5:c.433G>A	p.Ala145Thr	p.A145T	ENST00000389832		145	Gcc/Acc	0			1			T	A/T	uc001lxq.3	protein_coding		CCDS41603.2			433/939									large_intestine(1)|ovary(1)	2	c.(430-432)GCC>ACC			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR11334:SF26,hmmpanther:PTHR11334,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	MAS-related GPR, member E				ENSP00000374482		2-Feb	8.33E-06							0.000104	rs754926111,COSM3397638	2-Feb	.		ENST00000389832	Transcript				integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000184350	g.chr11:3249597C>T	30694			MODERATE		1.16	low	getma.org/?cm=msa&ty=f&p=MRGRE_HUMAN&rb=40&re=203&var=A144T	NA	getma.org/?cm=var&var=hg19,11,3249597,C,T&fts=all	A144T	--	--	1																																			0,1			possibly_damaging(0.688)	p.A144T	NM_001039165	NP_001034254		tolerated(0.1)	0,1		MRGPRE	HGNC	Q86SM8	MRGRE_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)			2	740	-		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	UPI000015F138	144			Helical; Name=4; (Potential).		SNV	MRGPRE,missense_variant,p.Ala145Thr,ENST00000389832,;MRGPRE,missense_variant,p.Ala144Thr,ENST00000436689,NM_001039165.2;AC109309.4,intron_variant,,ENST00000418995,;	uc001lxq.3	c.430G>A	740/1409	2	2			c.430G>A						11	SNP	c.(430-432)GCC>ACC	26	26			large_intestine(1)|ovary(1)	2	Broad	MAS-related GPR, member E			3249597		0.711	ENSG00000184350	9584	g.chr11:3249597C>T		integral to membrane|plasma membrane	G-protein coupled receptor activity							18.752846	KEEP	5	1	-1	1	1	5	1	-1	19.206863	1	1	0.75	1	0	0	0	0	1	0	0	0	--	--		0	T				124	GBM-12-1597-TP	p.A144T	C	CAGGTGAGGGCGCACACACAG	NM_001039165	NP_001034254	3249597	Q86SM8	MRGRE_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	740	-	T	T		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	Missense_Mutation	144			Helical; Name=4; (Potential).			
MRGPRX1	259249	broad.mit.edu	GRCh37	11	18955854	18955854	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0169-01	TCGA-06-0169-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302797.3:c.478T>G	p.Leu160Val	p.L160V	ENST00000302797	NM_147199.3	160	Tta/Gta	0			1			C	L/V	uc001mpg.2	protein_coding	YES	CCDS7846.1			478/969									pancreas(2)|central_nervous_system(1)	3	c.(478-480)TTA>GTA			PROSITE_profiles:PS50262,hmmpanther:PTHR11334,hmmpanther:PTHR11334:SF22,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	MAS-related GPR, member X1				ENSP00000305766		1-Jan									COSM3747871	1-Jan	.		ENST00000302797	Transcript			acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000170255	g.chr11:18955854A>C	17962			MODERATE		0.6	neutral	getma.org/?cm=msa&ty=f&p=MRGX1_HUMAN&rb=44&re=272&var=L160V	NA	getma.org/?cm=var&var=hg19,11,18955854,A,C&fts=all	L160V	--	--	1																																			1	1		benign(0.005)	p.L160V	NM_147199	NP_671732		tolerated(0.18)	1	MRGX1_HUMAN	MRGPRX1	HGNC	Q96LB2	MRGX1_HUMAN					1	696	-			UPI000003BCCF	160			Helical; Name=4; (Potential).		SNV	MRGPRX1,missense_variant,p.Leu160Val,ENST00000302797,NM_147199.3;RP11-583F24.8,upstream_gene_variant,,ENST00000528646,;MRGPRX1,non_coding_transcript_exon_variant,,ENST00000526914,;	uc001mpg.2	c.478T>G	703/1197	3	3			c.478T>G						11	SNP	c.(478-480)TTA>GTA	53	53			pancreas(2)|central_nervous_system(1)	3	Broad	MAS-related GPR, member X1			18955854		0.557	ENSG00000170255	9586	g.chr11:18955854A>C	acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity							46.787629	KEEP	16	20	-1	54	70	16	20	-1	58.881963	54	70	0.178862	1	0	0	0	0	1	0	0	0	--	--		0	C				34	GBM-06-0169-TP	p.L160V	A	AAGCCACATAACATCCACTCC	NM_147199	NP_671732	18955854	Q96LB2	MRGX1_HUMAN	0			1	696	-	C	C			Missense_Mutation	160			Helical; Name=4; (Potential).			
MRGPRX1	259249		GRCh37	11	18955702	18955702	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000302797.3:c.630G>A	p.Pro210=	p.P210=	ENST00000302797	NM_147199.3	210	ccG/ccA	0																																																																																																																																																																																																																																												
MRGPRX2	117194	broad.mit.edu	GRCh37	11	19077538	19077538	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0875-01	TCGA-06-0875-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329773.2:c.412C>T	p.Arg138Cys	p.R138C	ENST00000329773	NM_054030.2	138	Cgc/Tgc	0			1			A	R/C	uc001mph.2	protein_coding	YES	CCDS7847.1			412/993									ovary(1)	1	c.(412-414)CGC>TGC			PROSITE_profiles:PS50262,hmmpanther:PTHR11334:SF25,hmmpanther:PTHR11334,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR02108	MAS-related GPR, member X2				ENSP00000333800		2-Feb	8.24E-06	9.61E-05							rs753275049,COSM2152022	2-Feb	.		ENST00000329773	Transcript			sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	ENSG00000183695	g.chr11:19077538G>A	17983			MODERATE		2.865	medium	getma.org/?cm=msa&ty=f&p=MRGX2_HUMAN&rb=47&re=279&var=R138C	getma.org/pdb.php?prot=MRGX2_HUMAN&from=47&to=279&var=R138C	getma.org/?cm=var&var=hg19,11,19077538,G,A&fts=all	R138C	--	--	1																																			0,1	1		possibly_damaging(0.584)	p.R138C	NM_054030	NP_473371		deleterious(0.03)	0,1	MRGX2_HUMAN	MRGPRX2	HGNC	Q96LB1	MRGX2_HUMAN					2	500	-			UPI0000038C81	138			Cytoplasmic (Potential).		SNV	MRGPRX2,missense_variant,p.Arg138Cys,ENST00000329773,NM_054030.2;	uc001mph.2	c.412C>T	500/2036	1	1			c.412C>T						11	SNP	c.(412-414)CGC>TGC	59	59			ovary(1)	1	Broad	MAS-related GPR, member X2			19077538		0.617	ENSG00000183695	9587	g.chr11:19077538G>A	sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	GBM(198;1966 2199 4849 37227 49954)			GBM(198;1966 2199 4849 37227 49954)			56.678539	KEEP	13	14	-1	45	52	13	14	-1	62.440912	45	52	0.242105	1	0	0	0	0	1	0	0	0	--	--		0	A				71	GBM-06-0875-TP	p.R138C	G	CGGCGGCAGCGATACCAGATG	NM_054030	NP_473371	19077538	Q96LB1	MRGX2_HUMAN	0			2	500	-	A	A			Missense_Mutation	138			Cytoplasmic (Potential).			
MRGPRX2	0	broad.mit.edu	GRCh37	11	19077216	19077216	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-4211-01	TCGA-32-4211-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329773.2:c.734T>C	p.Leu245Pro	p.L245P	ENST00000329773	NM_054030.2	245	cTa/cCa	0			1			G	L/P	uc001mph.2	protein_coding	YES	CCDS7847.1			734/993									ovary(1)	1	c.(733-735)CTA>CCA			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR11334:SF25,hmmpanther:PTHR11334,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	MAS-related GPR, member X2				ENSP00000333800		2-Feb									COSM3397603	2-Feb	.		ENST00000329773	Transcript			sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	ENSG00000183695	g.chr11:19077216A>G	17983			MODERATE		3.525	high	getma.org/?cm=msa&ty=f&p=MRGX2_HUMAN&rb=47&re=279&var=L245P	NA	getma.org/?cm=var&var=hg19,11,19077216,A,G&fts=all	L245P	--	--	1																																			1	1		possibly_damaging(0.648)	p.L245P	NM_054030	NP_473371		deleterious(0.02)	1	MRGX2_HUMAN	MRGPRX2	HGNC	Q96LB1	MRGX2_HUMAN					2	822	-			UPI0000038C81	245			Helical; Name=6; (Potential).		SNV	MRGPRX2,missense_variant,p.Leu245Pro,ENST00000329773,NM_054030.2;	uc001mph.2	c.734T>C	822/2036	4	4			c.734T>C						11	SNP	c.(733-735)CTA>CCA	23	23			ovary(1)	1	Broad	MAS-related GPR, member X2			19077216		0.498	ENSG00000183695	9587	g.chr11:19077216A>G	sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	GBM(198;1966 2199 4849 37227 49954)			GBM(198;1966 2199 4849 37227 49954)			-20.47461	KEEP	1	2	-1	47	77	1	2	-1	7.519706	47	77	0.026549	1	0	0	0	0	1	0	0	0	--	--		0	G				246	GBM-32-4211-TP	p.L245P	A	CCATAATATTAGGAACCACTG	NM_054030	NP_473371	19077216	Q96LB1	MRGX2_HUMAN	0			2	822	-	G	G			Missense_Mutation	245			Helical; Name=6; (Potential).			
MRGPRX3	0	broad.mit.edu	GRCh37	11	18158842	18158842	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1970-01	TCGA-32-1970-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396275.2:c.93G>A	p.Thr31=	p.T31=	ENST00000396275	NM_054031.3	31	acG/acA	0			1			A	T	uc001mnu.2	protein_coding	YES	CCDS7830.1			93/969									ovary(1)|pancreas(1)	2	c.(91-93)ACG>ACA			Transmembrane_helices:TMhelix,hmmpanther:PTHR11334:SF22,hmmpanther:PTHR11334,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	MAS-related GPR, member X3				ENSP00000379571		3-Mar	1.65E-05					3.00E-05			COSM3397594	3-Mar	.		ENST00000396275	Transcript				integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000179826	g.chr11:18158842G>A	17980			LOW								--	--	1																																			1	1			p.T31T	NM_054031	NP_473372			1	MRGX3_HUMAN	MRGPRX3	HGNC	Q96LB0	MRGX3_HUMAN			E9PPY5_HUMAN		3	454	+			UPI0000061FCF	31			Extracellular (Potential).		SNV	MRGPRX3,synonymous_variant,p.=,ENST00000396275,NM_054031.3;MRGPRX3,synonymous_variant,p.=,ENST00000531264,;RP11-113D6.6,downstream_gene_variant,,ENST00000527671,;	uc001mnu.2	c.93G>A	454/1639	2	2			c.93G>A						11	SNP	c.(91-93)ACG>ACA	33	33			ovary(1)|pancreas(1)	2	Broad	MAS-related GPR, member X3			18158842		0.567	ENSG00000179826	9588	g.chr11:18158842G>A		integral to membrane|plasma membrane	G-protein coupled receptor activity							402.056902	KEEP	79	64	-1	87	115	79	64	-1	403.772181	87	115	0.419672	1	0	0	0	0	0	0	1	0	--	--		0	A				228	GBM-32-1970-TP	p.T31T	G	TGAGCTTCACGGGGCTGACGT	NM_054031	NP_473372	18158842	Q96LB0	MRGX3_HUMAN	0			3	454	+	A	A			Silent	31			Extracellular (Potential).			
MRGPRX4	0	broad.mit.edu	GRCh37	11	18195645	18195645	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01	TCGA-14-1450-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314254.3:c.842G>A	p.Arg281His	p.R281H	ENST00000314254	NM_054032.3	281	cGt/cAt	0			1			A	R/H	uc001mnv.1	protein_coding	YES	CCDS7831.1			842/969									skin(1)	1	c.(841-843)CGT>CAT			hmmpanther:PTHR11334:SF23,hmmpanther:PTHR11334,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	MAS-related GPR, member X4				ENSP00000314042		1-Jan	7.41E-05		8.64E-05			0.00012			rs747411197,COSM3397595	1-Jan	.		ENST00000314254	Transcript				integral to membrane|plasma membrane	G-protein coupled receptor activity	ENSG00000179817	g.chr11:18195645G>A	17617			MODERATE		2.435	medium	getma.org/?cm=msa&ty=f&p=MRGX4_HUMAN&rb=273&re=322&var=R281H	NA	getma.org/?cm=var&var=hg19,11,18195645,G,A&fts=all	R281H	--	--	1																																			0,1	1		benign(0.014)	p.R281H	NM_054032	NP_473373		tolerated(0.06)	0,1	MRGX4_HUMAN	MRGPRX4	HGNC	Q96LA9	MRGX4_HUMAN					1	1262	+			UPI0000061F60	281			Cytoplasmic (Potential).		SNV	MRGPRX4,missense_variant,p.Arg281His,ENST00000314254,NM_054032.3;RP11-113D6.6,intron_variant,,ENST00000527671,;	uc001mnv.1	c.842G>A	1262/1444	1	1			c.842G>A						11	SNP	c.(841-843)CGT>CAT	52	52			skin(1)	1	Broad	MAS-related GPR, member X4			18195645		0.498	ENSG00000179817	9589	g.chr11:18195645G>A		integral to membrane|plasma membrane	G-protein coupled receptor activity							106.73532	KEEP	25	25	-1	68	62	25	25	-1	111.740982	68	62	0.303448	1	0	0	0	0	1	0	0	0	--	--		0	A				145	GBM-14-1450-TP	p.R281H	G	TTTAGGCAGCGTCAAAATAGG	NM_054032	NP_473373	18195645	Q96LA9	MRGX4_HUMAN	0			1	1262	+	A	A			Missense_Mutation	281			Cytoplasmic (Potential).			
MRGPRX4	117196		GRCh37	11	18195044	18195044	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000314254.3:c.241A>G	p.Ile81Val	p.I81V	ENST00000314254	NM_054032.3	81	Ata/Gta	0																																																																																																																																																																																																																																												
MRI1	84245	broad.mit.edu	GRCh37	19	13876915	13876915	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-06-0649-01	TCGA-06-0649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000040663.6:c.519G>C	p.Leu173=	p.L173=	ENST00000040663	NM_001031727.2	173	ctG/ctC	0			1			C	L	uc002mxe.2	protein_coding	YES	CCDS32923.1			519/1110									ovary(1)	1	c.(517-519)CTG>CTC			Gene3D:3.40.50.10470,HAMAP:MF_01678,Pfam_domain:PF01008,hmmpanther:PTHR10233,hmmpanther:PTHR10233:SF6,Low_complexity_(Seg):seg,Superfamily_domains:SSF100950,TIGRFAM_domain:TIGR00512,TIGRFAM_domain:TIGR00524	translation initiation factor eIF-2B subunit				ENSP00000040663		6-Mar									COSM2151473	6-Mar	.		ENST00000040663	Transcript			L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity	ENSG00000037757	g.chr19:13876915G>C	28469			LOW								--	--	1																																		MRI1_uc002mxf.2_Intron	1	1			p.L173L	NM_001031727	NP_001026897			1	MTNA_HUMAN	MRI1	HGNC	Q9BV20	MTNA_HUMAN					3	585	+			UPI0000051F79	173					SNV	MRI1,synonymous_variant,p.=,ENST00000040663,NM_001031727.2;MRI1,synonymous_variant,p.=,ENST00000593245,;MRI1,intron_variant,,ENST00000319545,NM_032285.2;CCDC130,downstream_gene_variant,,ENST00000586600,;CCDC130,downstream_gene_variant,,ENST00000221554,NM_030818.2;CCDC130,downstream_gene_variant,,ENST00000586666,;CCDC130,downstream_gene_variant,,ENST00000585844,;CCDC130,downstream_gene_variant,,ENST00000589669,;CCDC130,downstream_gene_variant,,ENST00000587019,;MRI1,non_coding_transcript_exon_variant,,ENST00000591688,;MRI1,intron_variant,,ENST00000588526,;MRI1,intron_variant,,ENST00000589290,;CCDC130,downstream_gene_variant,,ENST00000593174,;	uc002mxe.2	c.519G>C	559/1735	4	4			c.519G>C						19	SNP	c.(517-519)CTG>CTC	44	44			ovary(1)	1	Broad	translation initiation factor eIF-2B subunit			13876915		0.552	ENSG00000037757	9590	g.chr19:13876915G>C	L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity							17.011268	KEEP	10	2	-1	39	21	10	2	-1	22.463544	39	21	0.178571	1	0	0	0	0	0	0	1	0	--	--		0	C			MRI1_uc002mxf.2_Intron	62	GBM-06-0649-TP	p.L173L	G	CTGGTGCTCTGGCCACCGCTG	NM_001031727	NP_001026897	13876915	Q9BV20	MTNA_HUMAN	0			3	585	+	C	C			Silent	173						
MROH2B	133558	broad.mit.edu	GRCh37	5	41067251	41067251	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399564.4:c.160C>T	p.Arg54Ter	p.R54*	ENST00000399564	NM_173489.4	54	Cga/Tga	0		A:0	1	A:0		A	R/*	uc003jmj.3	protein_coding	YES	CCDS47202.1			160/4758									ovary(6)|central_nervous_system(2)	8	c.(160-162)CGA>TGA			hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF15,Gene3D:1.25.10.10	HEAT repeat family member 7B2		A:0		ENSP00000382476	A:0	Mar-42	1.77E-05					8.83E-05		0.000126	rs562368242	Mar-42	.		ENST00000399564	Transcript		A:0.0002			binding	ENSG00000171495	g.chr5:41067251G>A	26857			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,5,41067251,G,A&fts=all	R54*	--	--	1																																				1			p.R54*	NM_173489	NP_775760	A:0.001			MRO2B_HUMAN	MROH2B	HGNC	Q7Z745	HTRB2_HUMAN			F5GZ06_HUMAN		3	650	-			UPI000020CA04	54			HEAT 1.		SNV	MROH2B,stop_gained,p.Arg54Ter,ENST00000399564,NM_173489.4;MROH2B,non_coding_transcript_exon_variant,,ENST00000508575,;	uc003jmj.3	c.160C>T	611/5239	5	2			c.160C>T						5	SNP	c.(160-162)CGA>TGA	33	33			ovary(6)|central_nervous_system(2)	8	Broad	HEAT repeat family member 7B2			41067251		0.373	ENSG00000171495	6907	g.chr5:41067251G>A			binding							7.819215	KEEP	0	4	-1	6	3	0	4	-1	8.500951	6	3	0.25	1	0	0	0	0	0	1	0	0	--	--		0	A				18	GBM-06-0137-TP	p.R54*	G	TAAATCAATCGTTGGACAATT	NM_173489	NP_775760	41067251	Q7Z745	HTRB2_HUMAN	0			3	650	-	A	A			Nonsense_Mutation	54			HEAT 1.			
MROH2B	133558	broad.mit.edu	GRCh37	5	41052628	41052628	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01	TCGA-06-0185-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399564.4:c.1169G>A	p.Arg390Gln	p.R390Q	ENST00000399564	NM_173489.4	390	cGg/cAg	0		T:0	1	T:0		T	R/Q	uc003jmj.3	protein_coding	YES	CCDS47202.1			1169/4758									ovary(6)|central_nervous_system(2)	8	c.(1168-1170)CGG>CAG			hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF15,Superfamily_domains:SSF48371	HEAT repeat family member 7B2		T:0		ENSP00000382476	T:0	Dec-42	0.000497	0.000102	8.70E-05	0.000116		3.00E-05		0.00334	rs566379429,COSM2150535	Dec-42	common_variant		ENST00000399564	Transcript		T:0.0008			binding	ENSG00000171495	g.chr5:41052628C>T	26857			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=HTRB2_HUMAN&rb=11&re=1583&var=R390Q	NA	getma.org/?cm=var&var=hg19,5,41052628,C,T&fts=all	R390Q	--	--	1																																		HEATR7B2_uc003jmi.3_Intron	0,1	1		benign(0.009)	p.R390Q	NM_173489	NP_775760	T:0.0041	tolerated(0.28)	0,1	MRO2B_HUMAN	MROH2B	HGNC	Q7Z745	HTRB2_HUMAN			F5GZ06_HUMAN		12	1659	-			UPI000020CA04	390					SNV	MROH2B,missense_variant,p.Arg390Gln,ENST00000399564,NM_173489.4;MROH2B,intron_variant,,ENST00000506092,;MROH2B,non_coding_transcript_exon_variant,,ENST00000515297,;MROH2B,non_coding_transcript_exon_variant,,ENST00000508575,;MROH2B,upstream_gene_variant,,ENST00000503890,;	uc003jmj.3	c.1169G>A	1620/5239	2	2			c.1169G>A						5	SNP	c.(1168-1170)CGG>CAG	21	21			ovary(6)|central_nervous_system(2)	8	Broad	HEAT repeat family member 7B2			41052628		0.393	ENSG00000171495	6907	g.chr5:41052628C>T			binding							136.094556	KEEP	19	36	-1	43	34	19	36	-1	137.084535	43	34	0.401709	1	0	0	0	0	1	0	0	0	--	--		0	T			HEATR7B2_uc003jmi.3_Intron	40	GBM-06-0185-TP	p.R390Q	C	CCATCCTTCCCGAGCTTCAAT	NM_173489	NP_775760	41052628	Q7Z745	HTRB2_HUMAN	0			12	1659	-	T	T			Missense_Mutation	390						
MROH2B	133558	broad.mit.edu	GRCh37	5	41061746	41061746	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0211-01	TCGA-06-0211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399564.4:c.541C>T	p.Arg181Ter	p.R181*	ENST00000399564	NM_173489.4	181	Cga/Tga	0			1			A	R/*	uc003jmj.3	protein_coding	YES	CCDS47202.1			541/4758									ovary(6)|central_nervous_system(2)	8	c.(541-543)CGA>TGA			hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF15,Gene3D:1.25.10.10	HEAT repeat family member 7B2				ENSP00000382476		Jun-42	8.28E-06					1.50E-05			rs200958096,COSM2150781	Jun-42	.		ENST00000399564	Transcript					binding	ENSG00000171495	g.chr5:41061746G>A	26857			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,5,41061746,G,A&fts=all	R181*	--	--	1																																			0,1	1			p.R181*	NM_173489	NP_775760			0,1	MRO2B_HUMAN	MROH2B	HGNC	Q7Z745	HTRB2_HUMAN			F5GZ06_HUMAN		6	1031	-			UPI000020CA04	181					SNV	MROH2B,stop_gained,p.Arg181Ter,ENST00000399564,NM_173489.4;MROH2B,upstream_gene_variant,,ENST00000506092,;MROH2B,non_coding_transcript_exon_variant,,ENST00000508575,;MROH2B,upstream_gene_variant,,ENST00000515297,;	uc003jmj.3	c.541C>T	992/5239	5	2			c.541C>T						5	SNP	c.(541-543)CGA>TGA	17	17			ovary(6)|central_nervous_system(2)	8	Broad	HEAT repeat family member 7B2			41061746		0.483	ENSG00000171495	6907	g.chr5:41061746G>A			binding							366.453248	KEEP	69	58	-1	77	81	69	58	-1	367.19329	77	81	0.443182	1	0	0	0	0	0	1	0	0	--	--		0	A				48	GBM-06-0211-TP	p.R181*	G	TCAGACAGTCGGTTGGCATCC	NM_173489	NP_775760	41061746	Q7Z745	HTRB2_HUMAN	0			6	1031	-	A	A			Nonsense_Mutation	181						
MROH2B	133558	broad.mit.edu	GRCh37	5	41048449	41048449	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5410-01	TCGA-06-5410-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399564.4:c.1661C>T	p.Pro554Leu	p.P554L	ENST00000399564	NM_173489.4	554	cCt/cTt	0			1			A	P/L	uc003jmj.3	protein_coding	YES	CCDS47202.1			1661/4758									ovary(6)|central_nervous_system(2)	8	c.(1660-1662)CCT>CTT			hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF15	HEAT repeat family member 7B2				ENSP00000382476		16/42									COSM3410277	16/42	.		ENST00000399564	Transcript					binding	ENSG00000171495	g.chr5:41048449G>A	26857			MODERATE		1.875	low	getma.org/?cm=msa&ty=f&p=HTRB2_HUMAN&rb=11&re=1583&var=P554L	NA	getma.org/?cm=var&var=hg19,5,41048449,G,A&fts=all	P554L	--	--	1																																		HEATR7B2_uc003jmi.3_Missense_Mutation_p.P109L	1	1		probably_damaging(0.938)	p.P554L	NM_173489	NP_775760		deleterious(0.03)	1	MRO2B_HUMAN	MROH2B	HGNC	Q7Z745	HTRB2_HUMAN			F5GZ06_HUMAN		16	2151	-			UPI000020CA04	554			HEAT 6.		SNV	MROH2B,missense_variant,p.Pro554Leu,ENST00000399564,NM_173489.4;MROH2B,missense_variant,p.Pro109Leu,ENST00000506092,;MROH2B,non_coding_transcript_exon_variant,,ENST00000515297,;MROH2B,non_coding_transcript_exon_variant,,ENST00000503890,;MROH2B,non_coding_transcript_exon_variant,,ENST00000508575,;	uc003jmj.3	c.1661C>T	2112/5239	1	1			c.1661C>T						5	SNP	c.(1660-1662)CCT>CTT	62	62			ovary(6)|central_nervous_system(2)	8	Broad	HEAT repeat family member 7B2			41048449		0.468	ENSG00000171495	6907	g.chr5:41048449G>A			binding							-7.909009	KEEP	4	2	-1	37	64	4	2	-1	11.905378	37	64	0.053191	1	0	0	0	0	1	0	0	0	--	--		0	A			HEATR7B2_uc003jmi.3_Missense_Mutation_p.P109L	93	GBM-06-5410-TP	p.P554L	G	CAGAAGCTCAGGTAAACGTGT	NM_173489	NP_775760	41048449	Q7Z745	HTRB2_HUMAN	0			16	2151	-	A	A			Missense_Mutation	554			HEAT 6.			
MROH2B	0	broad.mit.edu	GRCh37	5	41051145	41051145	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-6391-01	TCGA-06-6391-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399564.4:c.1278A>G	p.Glu426=	p.E426=	ENST00000399564	NM_173489.4	426	gaA/gaG	0			1			C	E	uc003jmj.3	protein_coding	YES	CCDS47202.1			1278/4758									ovary(6)|central_nervous_system(2)	8	c.(1276-1278)GAA>GAG			hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF15,Superfamily_domains:SSF48371	HEAT repeat family member 7B2				ENSP00000382476		13/42										13/42	.		ENST00000399564	Transcript					binding	ENSG00000171495	g.chr5:41051145T>C	26857			LOW								--	--	1																																		HEATR7B2_uc003jmi.3_5'UTR		1			p.E426E	NM_173489	NP_775760				MRO2B_HUMAN	MROH2B	HGNC	Q7Z745	HTRB2_HUMAN			F5GZ06_HUMAN		13	1768	-			UPI000020CA04	426			HEAT 5.		SNV	MROH2B,synonymous_variant,p.=,ENST00000399564,NM_173489.4;MROH2B,5_prime_UTR_variant,,ENST00000506092,;MROH2B,non_coding_transcript_exon_variant,,ENST00000515297,;MROH2B,non_coding_transcript_exon_variant,,ENST00000503890,;MROH2B,non_coding_transcript_exon_variant,,ENST00000508575,;	uc003jmj.3	c.1278A>G	1729/5239	3	3			c.1278A>G						5	SNP	c.(1276-1278)GAA>GAG	9	9			ovary(6)|central_nervous_system(2)	8	Broad	HEAT repeat family member 7B2			41051145		0.423	ENSG00000171495	6907	g.chr5:41051145T>C			binding							11.551834	KEEP	3	4	-1	25	6	3	4	-1	15.620261	25	6	0.147059	1	0	0	0	0	0	0	1	0	--	--		0	C			HEATR7B2_uc003jmi.3_5'UTR	107	GBM-06-6391-TP	p.E426E	T	CTCGGACAGATTCCTCTTCCT	NM_173489	NP_775760	41051145	Q7Z745	HTRB2_HUMAN	0			13	1768	-	C	C			Silent	426			HEAT 5.			
MROH2B	0	broad.mit.edu	GRCh37	5	41061824	41061824	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T			TCGA-16-0846-01	TCGA-16-0846-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399564.4:c.463C>A	p.Leu155Ile	p.L155I	ENST00000399564	NM_173489.4	155	Ctt/Att	0			1			T	L/I	uc003jmj.3	protein_coding	YES	CCDS47202.1			463/4758									ovary(6)|central_nervous_system(2)	8	c.(463-465)CTT>ATT			hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF15,Gene3D:1.25.10.10	HEAT repeat family member 7B2				ENSP00000382476		Jun-42									COSM3410282	Jun-42	.		ENST00000399564	Transcript					binding	ENSG00000171495	g.chr5:41061824G>T	26857			MODERATE		1.955	medium	getma.org/?cm=msa&ty=f&p=HTRB2_HUMAN&rb=11&re=1583&var=L155I	NA	getma.org/?cm=var&var=hg19,5,41061824,G,T&fts=all	L155I	--	--	1																																			1	1		possibly_damaging(0.881)	p.L155I	NM_173489	NP_775760		deleterious(0.01)	1	MRO2B_HUMAN	MROH2B	HGNC	Q7Z745	HTRB2_HUMAN			F5GZ06_HUMAN		6	953	-			UPI000020CA04	155					SNV	MROH2B,missense_variant,p.Leu155Ile,ENST00000399564,NM_173489.4;MROH2B,upstream_gene_variant,,ENST00000506092,;MROH2B,splice_region_variant,,ENST00000508575,;MROH2B,upstream_gene_variant,,ENST00000515297,;	uc003jmj.3	c.463C>A	914/5239	2	2			c.463C>A						5	SNP	c.(463-465)CTT>ATT	35	35			ovary(6)|central_nervous_system(2)	8	Broad	HEAT repeat family member 7B2			41061824		0.398	ENSG00000171495	6907	g.chr5:41061824G>T			binding							119.882017	KEEP	24	17	0.585365854	26	30	24	17	0.585365854	120.464316	26	30	0.416667	1	0	0	0	0	1	0	0	0	--	--		0	T				155	GBM-16-0846-TP	p.L155I	G	AATTTCTCAAGGGCTGCATTT	NM_173489	NP_775760	41061824	Q7Z745	HTRB2_HUMAN	0			6	953	-	T	T			Missense_Mutation	155						
MROH2B	0	broad.mit.edu	GRCh37	5	41012778	41012778	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2623-01	TCGA-19-2623-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399564.4:c.3042C>T	p.Asp1014=	p.D1014=	ENST00000399564	NM_173489.4	1014	gaC/gaT	0			1			A	D	uc003jmj.3	protein_coding	YES	CCDS47202.1			3042/4758									ovary(6)|central_nervous_system(2)	8	c.(3040-3042)GAC>GAT			hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF15,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	HEAT repeat family member 7B2				ENSP00000382476		30/42	9.10E-05		8.69E-05			0.000105		0.000182	rs565304743,COSM3410276	30/42	.		ENST00000399564	Transcript					binding	ENSG00000171495	g.chr5:41012778G>A	26857			LOW								--	--	1																																		HEATR7B2_uc003jmi.3_Silent_p.D569D	0,1	1			p.D1014D	NM_173489	NP_775760			0,1	MRO2B_HUMAN	MROH2B	HGNC	Q7Z745	HTRB2_HUMAN			F5GZ06_HUMAN		30	3532	-			UPI000020CA04	1014					SNV	MROH2B,synonymous_variant,p.=,ENST00000399564,NM_173489.4;MROH2B,synonymous_variant,p.=,ENST00000506092,;MROH2B,non_coding_transcript_exon_variant,,ENST00000515297,;MROH2B,non_coding_transcript_exon_variant,,ENST00000503890,;	uc003jmj.3	c.3042C>T	3493/5239	2	2			c.3042C>T						5	SNP	c.(3040-3042)GAC>GAT	47	47			ovary(6)|central_nervous_system(2)	8	Broad	HEAT repeat family member 7B2			41012778		0.478	ENSG00000171495	6907	g.chr5:41012778G>A			binding							193.398766	KEEP	41	32	-1	54	41	41	32	-1	194.053095	54	41	0.428571	1	0	0	0	0	0	0	1	0	--	--		0	A			HEATR7B2_uc003jmi.3_Silent_p.D569D	163	GBM-19-2623-TP	p.D1014D	G	TCTCCAGACCGTCCAGCATTT	NM_173489	NP_775760	41012778	Q7Z745	HTRB2_HUMAN	0			30	3532	-	A	A			Silent	1014						
MROH2B	0	broad.mit.edu	GRCh37	5	41058241	41058241	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-1439-01	TCGA-26-1439-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399564.4:c.680G>A	p.Arg227His	p.R227H	ENST00000399564	NM_173489.4	227	cGt/cAt	0			1			T	R/H	uc003jmj.3	protein_coding	YES	CCDS47202.1			680/4758									ovary(6)|central_nervous_system(2)	8	c.(679-681)CGT>CAT			hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF15	HEAT repeat family member 7B2				ENSP00000382476		Jul-42	0.000124		0.00113			3.02E-05			rs762785601,COSM3410280	Jul-42	common_variant		ENST00000399564	Transcript					binding	ENSG00000171495	g.chr5:41058241C>T	26857			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=HTRB2_HUMAN&rb=11&re=1583&var=R227H	NA	getma.org/?cm=var&var=hg19,5,41058241,C,T&fts=all	R227H	--	--	1																																		HEATR7B2_uc003jmi.3_Translation_Start_Site	0,1	1		benign(0.002)	p.R227H	NM_173489	NP_775760		tolerated(0.4)	0,1	MRO2B_HUMAN	MROH2B	HGNC	Q7Z745	HTRB2_HUMAN			F5GZ06_HUMAN		7	1170	-			UPI000020CA04	227					SNV	MROH2B,missense_variant,p.Arg227His,ENST00000399564,NM_173489.4;MROH2B,5_prime_UTR_variant,,ENST00000506092,;MROH2B,non_coding_transcript_exon_variant,,ENST00000515297,;MROH2B,non_coding_transcript_exon_variant,,ENST00000508575,;	uc003jmj.3	c.680G>A	1131/5239	1	1			c.680G>A						5	SNP	c.(679-681)CGT>CAT	4	4			ovary(6)|central_nervous_system(2)	8	Broad	HEAT repeat family member 7B2			41058241		0.517	ENSG00000171495	6907	g.chr5:41058241C>T			binding							34.283764	KEEP	11	6	-1	36	44	11	6	-1	43.26862	36	44	0.175824	1	0	0	0	0	1	0	0	0	--	--		0	T			HEATR7B2_uc003jmi.3_Translation_Start_Site	179	GBM-26-1439-TP	p.R227H	C	GGCGTATCCACGGAAGTCTTC	NM_173489	NP_775760	41058241	Q7Z745	HTRB2_HUMAN	0			7	1170	-	T	T			Missense_Mutation	227						
MROH2B	0	broad.mit.edu	GRCh37	5	41070948	41070948	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-28-5220-01	TCGA-28-5220-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399564.4:c.7C>A	p.Leu3Ile	p.L3I	ENST00000399564	NM_173489.4	3	Ctt/Att	0			1			T	L/I	uc003jmj.3	protein_coding	YES	CCDS47202.1			Jul-58									ovary(6)|central_nervous_system(2)	8	c.(7-9)CTT>ATT			hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF15	HEAT repeat family member 7B2				ENSP00000382476		Jan-42									COSM3410283	Jan-42	.		ENST00000399564	Transcript					binding	ENSG00000171495	g.chr5:41070948G>T	26857			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=HTRB2_HUMAN&rb=1&re=40&var=L3I	NA	getma.org/?cm=var&var=hg19,5,41070948,G,T&fts=all	L3I	--	--	1																																			1	1		benign(0.043)	p.L3I	NM_173489	NP_775760		tolerated_low_confidence(0.25)	1	MRO2B_HUMAN	MROH2B	HGNC	Q7Z745	HTRB2_HUMAN			F5GZ06_HUMAN		1	497	-			UPI000020CA04	3					SNV	MROH2B,missense_variant,p.Leu3Ile,ENST00000399564,NM_173489.4;MROH2B,non_coding_transcript_exon_variant,,ENST00000508575,;	uc003jmj.3	c.7C>A	458/5239	1	1			c.7C>A						5	SNP	c.(7-9)CTT>ATT	1	1			ovary(6)|central_nervous_system(2)	8	Broad	HEAT repeat family member 7B2			41070948		0.398	ENSG00000171495	6907	g.chr5:41070948G>T			binding							38.694114	KEEP	7	8	0.466666667	33	18	7	8	0.466666667	41.759118	33	18	0.258621	1	0	0	0	0	1	0	0	0	--	--		0	T				226	GBM-28-5220-TP	p.L3I	G	TCTGTACTAAGTGTCATGTCT	NM_173489	NP_775760	41070948	Q7Z745	HTRB2_HUMAN	0			1	497	-	T	T			Missense_Mutation	3						
MROH2B	0	broad.mit.edu	GRCh37	5	41009468	41009468	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-41-2575-01	TCGA-41-2575-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399564.4:c.3334G>C	p.Ala1112Pro	p.A1112P	ENST00000399564	NM_173489.4	1112	Gcc/Ccc	0			1			G	A/P	uc003jmj.3	protein_coding	YES	CCDS47202.1			3334/4758									ovary(6)|central_nervous_system(2)	8	c.(3334-3336)GCC>CCC			hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF15,Gene3D:1.25.10.10	HEAT repeat family member 7B2				ENSP00000382476		32/42	0.000306		0.00321						rs748626414,COSM3748303	32/42	common_variant		ENST00000399564	Transcript					binding	ENSG00000171495	g.chr5:41009468C>G	26857			MODERATE		0.525	neutral	getma.org/?cm=msa&ty=f&p=HTRB2_HUMAN&rb=11&re=1583&var=A1112P	NA	getma.org/?cm=var&var=hg19,5,41009468,C,G&fts=all	A1112P	--	--	1																																		HEATR7B2_uc003jmi.3_Missense_Mutation_p.A667P	0,1	1		benign(0.062)	p.A1112P	NM_173489	NP_775760		tolerated(0.08)	0,1	MRO2B_HUMAN	MROH2B	HGNC	Q7Z745	HTRB2_HUMAN			F5GZ06_HUMAN		32	3824	-			UPI000020CA04	1112			HEAT 12.		SNV	MROH2B,missense_variant,p.Ala1112Pro,ENST00000399564,NM_173489.4;MROH2B,missense_variant,p.Ala667Pro,ENST00000506092,;MROH2B,non_coding_transcript_exon_variant,,ENST00000515297,;MROH2B,non_coding_transcript_exon_variant,,ENST00000503890,;	uc003jmj.3	c.3334G>C	3785/5239	3	3			c.3334G>C						5	SNP	c.(3334-3336)GCC>CCC	58	58			ovary(6)|central_nervous_system(2)	8	Broad	HEAT repeat family member 7B2			41009468		0.498	ENSG00000171495	6907	g.chr5:41009468C>G			binding							190.241887	KEEP	42	29	-1	47	39	42	29	-1	190.250334	47	39	0.487805	1	0	0	0	0	1	0	0	0	--	--		0	G			HEATR7B2_uc003jmi.3_Missense_Mutation_p.A667P	253	GBM-41-2575-TP	p.A1112P	C	CCACTGGAGGCTGGCTTTTCA	NM_173489	NP_775760	41009468	Q7Z745	HTRB2_HUMAN	0			32	3824	-	G	G			Missense_Mutation	1112			HEAT 12.			
MROH2B	0	broad.mit.edu	GRCh37	5	41049447	41049447	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-41-5651-01	TCGA-41-5651-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399564.4:c.1436T>A	p.Met479Lys	p.M479K	ENST00000399564	NM_173489.4	479	aTg/aAg	0			1			T	M/K	uc003jmj.3	protein_coding	YES	CCDS47202.1			1436/4758									ovary(6)|central_nervous_system(2)	8	c.(1435-1437)ATG>AAG			hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF15	HEAT repeat family member 7B2				ENSP00000382476		14/42									COSM3410278	14/42	.		ENST00000399564	Transcript					binding	ENSG00000171495	g.chr5:41049447A>T	26857			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=HTRB2_HUMAN&rb=11&re=1583&var=M479K	NA	getma.org/?cm=var&var=hg19,5,41049447,A,T&fts=all	M479K	--	--	1																																		HEATR7B2_uc003jmi.3_Missense_Mutation_p.M34K	1	1		benign(0.173)	p.M479K	NM_173489	NP_775760		tolerated(0.09)	1	MRO2B_HUMAN	MROH2B	HGNC	Q7Z745	HTRB2_HUMAN			F5GZ06_HUMAN		14	1926	-			UPI000020CA04	479					SNV	MROH2B,missense_variant,p.Met479Lys,ENST00000399564,NM_173489.4;MROH2B,missense_variant,p.Met34Lys,ENST00000506092,;MROH2B,non_coding_transcript_exon_variant,,ENST00000515297,;MROH2B,non_coding_transcript_exon_variant,,ENST00000503890,;MROH2B,non_coding_transcript_exon_variant,,ENST00000508575,;	uc003jmj.3	c.1436T>A	1887/5239	2	2			c.1436T>A						5	SNP	c.(1435-1437)ATG>AAG	45	45			ovary(6)|central_nervous_system(2)	8	Broad	HEAT repeat family member 7B2			41049447		0.463	ENSG00000171495	6907	g.chr5:41049447A>T			binding							39.502698	KEEP	5	7	-1	4	8	5	7	-1	39.502698	4	8	0.5	1	0	0	0	0	1	0	0	0	--	--		0	T			HEATR7B2_uc003jmi.3_Missense_Mutation_p.M34K	258	GBM-41-5651-TP	p.M479K	A	CTCCTCTGCCATAATCAGAAT	NM_173489	NP_775760	41049447	Q7Z745	HTRB2_HUMAN	0			14	1926	-	T	T			Missense_Mutation	479						
MROH2B	133558		GRCh37	5	41058293	41058293	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000399564.4:c.628G>A	p.Val210Ile	p.V210I	ENST00000399564	NM_173489.4	210	Gtt/Att	0																																																																																																																																																																																																																																												
MROH5	0	broad.mit.edu	GRCh37	8	142505515	142505515	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-26-1439-01	TCGA-26-1439-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521161.1:c.226A>G	p.Lys76Glu	p.K76E	ENST00000521161		76	Aag/Gag	0			1			C	K/E	uc003ywi.2	protein_coding	YES				226/330										0	c.(331-333)AAG>GAG				hypothetical protein LOC389690				ENSP00000429440		3-Feb									COSM3412791,COSM3412790	3-Feb	.		ENST00000521161	Transcript					binding	ENSG00000226807	g.chr8:142505515T>C	42976			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=E5RII6_HUMAN&rb=11&re=108&var=K76E	NA	getma.org/?cm=var&var=hg19,8,142505515,T,C&fts=all	K76E	--	--	1																																		FLJ43860_uc011ljs.1_5'Flank|FLJ43860_uc010meu.1_5'Flank	1,1	1		probably_damaging(0.998)	p.K111E	NM_207414	NP_997297		deleterious(0)	1,1		MROH5	HGNC	Q6ZUA9	Q6ZUA9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		E5RII6_HUMAN		3	412	-	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		UPI0001E8F5FC	111					SNV	MROH5,missense_variant,p.Lys76Glu,ENST00000521161,;MROH5,3_prime_UTR_variant,,ENST00000521053,;MROH5,3_prime_UTR_variant,,ENST00000523857,;MROH5,missense_variant,p.Lys111Glu,ENST00000430863,NM_207414.2;	uc003ywi.2	c.331A>G	509/613	3	3			c.331A>G						8	SNP	c.(331-333)AAG>GAG	3	3				0	Broad	hypothetical protein LOC389690			142505515		0.527	ENSG00000226807	5827	g.chr8:142505515T>C			binding							120.230809	KEEP	21	25	-1	63	66	21	25	-1	127.117374	63	66	0.272109	1	0	0	0	0	1	0	0	0	--	--		0	C			FLJ43860_uc011ljs.1_5'Flank|FLJ43860_uc010meu.1_5'Flank	179	GBM-26-1439-TP	p.K111E	T	TTCTTGATCTTCTTGATGATG	NM_207414	NP_997297	142505515	Q6ZUA9	Q6ZUA9_HUMAN	0	BRCA - Breast invasive adenocarcinoma(115;0.0493)		3	412	-	C	C	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	111						
MROH5	0	broad.mit.edu	GRCh37	8	142476586	142476586	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-1833-01	TCGA-27-1833-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000430863.1:c.2400C>T	p.His800=	p.H800=	ENST00000430863	NM_207414.2	800	caC/caT	0			1			A		uc003ywi.2	nonsense_mediated_decay					-/120										0	c.(2398-2400)CAC>CAT				hypothetical protein LOC389690				ENSP00000429433		17/28									COSM3412789,COSM3412788	17/28	.		ENST00000521053	Transcript					binding	ENSG00000226807	g.chr8:142476586G>A	42976			MODIFIER								--	--	1																																		FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	1,1				p.H800H	NM_207414	NP_997297			1,1		MROH5	HGNC	Q6ZUA9	Q6ZUA9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		E5RFU7_HUMAN		19	2481	-	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		UPI0001E8F5FA	800					SNV	MROH5,3_prime_UTR_variant,,ENST00000521053,;MROH5,3_prime_UTR_variant,,ENST00000523857,;MROH5,synonymous_variant,p.=,ENST00000430863,NM_207414.2;	uc003ywi.2	c.2400C>T	2144/3830	2	2			c.2400C>T						8	SNP	c.(2398-2400)CAC>CAT	44	44				0	Broad	hypothetical protein LOC389690			142476586		0.632	ENSG00000226807	5827	g.chr8:142476586G>A			binding							28.412598	KEEP	10	7	-1	16	12	10	7	-1	29.225121	16	12	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	A			FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	192	GBM-27-1833-TP	p.H800H	G	GGGTGATGGCGTGCAGGGTCT	NM_207414	NP_997297	142476586	Q6ZUA9	Q6ZUA9_HUMAN	0	BRCA - Breast invasive adenocarcinoma(115;0.0493)		19	2481	-	A	A	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		Silent	800						
MROH7-TTC4	100527960	broad.mit.edu	GRCh37	1	55136211	55136211	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	C	C	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000414150.2:c.1431C>T	p.Ser477=	p.S477=	ENST00000414150		477	tcC/tcT	0			1			T	S	uc010ooe.1	protein_coding	YES	CCDS41342.2			1431/3972										0	c.(1429-1431)TCC>TCT			hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF9,Superfamily_domains:SSF48371	hypothetical protein LOC374977				ENSP00000396622		24-Jun	8.27E-06					1.61E-05			rs769296346,COSM3400889,COSM3400890,COSM3400888	24-Jun	.		ENST00000421030	Transcript				integral to membrane	binding	ENSG00000184313	g.chr1:55136211C>T	24802			LOW								--	--	1																																		C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Silent_p.S45S|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_5'UTR|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Silent_p.S477S|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_Intron|C1orf175_uc001cxt.1_RNA	0,1,1,1	1			p.S477S	NM_001039464	NP_001034553			0,1,1,1	MROH7_HUMAN	MROH7	HGNC	Q68CQ1	HEAT8_HUMAN			C9K0L2_HUMAN,B7ZBM2_HUMAN		6	1755	+			UPI000198C4E2	477					SNV	MROH7,synonymous_variant,p.=,ENST00000421030,NM_001039464.2;MROH7,synonymous_variant,p.=,ENST00000395690,;MROH7,synonymous_variant,p.=,ENST00000339553,;MROH7,synonymous_variant,p.=,ENST00000409996,;MROH7,synonymous_variant,p.=,ENST00000545244,;MROH7,5_prime_UTR_variant,,ENST00000454855,;MROH7,non_coding_transcript_exon_variant,,ENST00000478097,;MROH7-TTC4,synonymous_variant,p.=,ENST00000425300,;MROH7-TTC4,synonymous_variant,p.=,ENST00000414150,;MROH7-TTC4,synonymous_variant,p.=,ENST00000606515,;MROH7,synonymous_variant,p.=,ENST00000413188,;MROH7,synonymous_variant,p.=,ENST00000422659,;MROH7,synonymous_variant,p.=,ENST00000440047,;MROH7,synonymous_variant,p.=,ENST00000438846,;MROH7,intron_variant,,ENST00000440217,;	uc010ooe.1	c.1431C>T	1716/4329	2	2			c.1431C>T						1	SNP	c.(1429-1431)TCC>TCT	25	25				0	Broad	hypothetical protein LOC374977			55136211		0.473	ENSG00000184313	1973	g.chr1:55136211C>T		integral to membrane	binding							37.90169	KEEP	9	9	-1	15	12	9	9	-1	37.97329	15	12	0.444444	1	0	0	0	0	0	0	1	0	--	--		0	T			C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Silent_p.S45S|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_5'UTR|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Silent_p.S477S|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_Intron|C1orf175_uc001cxt.1_RNA	46	GBM-06-0209-TP	p.S477S	C	TCTCAAGCTCCGTCCGCAAGC	NM_001039464	NP_001034553	55136211	Q68CQ1	HEAT8_HUMAN	0			6	1755	+	T	T			Silent	477						
MROH7-TTC4	100527960	broad.mit.edu	GRCh37	1	55148429	55148429	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000414150.2:c.2482G>A	p.Val828Ile	p.V828I	ENST00000414150		828	Gtc/Atc	0	A:0		1			A	V/I	uc010ooe.1	protein_coding	YES	CCDS41342.2			2482/3972										0	c.(2482-2484)GTC>ATC			hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF9,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	hypothetical protein LOC374977			A:0.0001	ENSP00000396622		14/24	3.31E-05		8.65E-05			1.50E-05		0.000122	rs367669775,COSM330702,COSM3400891,COSM330701	14/24	.		ENST00000421030	Transcript				integral to membrane	binding	ENSG00000184313	g.chr1:55148429G>A	24802			MODERATE		1.01	low	getma.org/?cm=msa&ty=f&p=HEAT8_HUMAN&rb=421&re=1320&var=V828I	NA	getma.org/?cm=var&var=hg19,1,55148429,G,A&fts=all	V828I	--	--	1																																		C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Missense_Mutation_p.V396I|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.V346I|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Missense_Mutation_p.V828I|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_Intron|C1orf175_uc001cxt.1_RNA|C1orf175_uc009vzr.1_Missense_Mutation_p.V30I	0,1,1,1	1		benign(0.1)	p.V828I	NM_001039464	NP_001034553		tolerated(0.1)	0,1,1,1	MROH7_HUMAN	MROH7	HGNC	Q68CQ1	HEAT8_HUMAN			C9K0L2_HUMAN,B7ZBM2_HUMAN		14	2806	+			UPI000198C4E2	828					SNV	MROH7,missense_variant,p.Val828Ile,ENST00000421030,NM_001039464.2;MROH7,missense_variant,p.Val828Ile,ENST00000395690,;MROH7,missense_variant,p.Val828Ile,ENST00000339553,;MROH7,missense_variant,p.Val396Ile,ENST00000409996,;MROH7,missense_variant,p.Val346Ile,ENST00000454855,;MROH7,missense_variant,p.Val396Ile,ENST00000545244,;MROH7-TTC4,missense_variant,p.Val828Ile,ENST00000414150,;MROH7-TTC4,3_prime_UTR_variant,,ENST00000425300,;MROH7-TTC4,3_prime_UTR_variant,,ENST00000606515,;MROH7,3_prime_UTR_variant,,ENST00000413188,;MROH7,3_prime_UTR_variant,,ENST00000422659,;MROH7,3_prime_UTR_variant,,ENST00000440047,;MROH7,3_prime_UTR_variant,,ENST00000438846,;MROH7,intron_variant,,ENST00000440217,;MROH7,upstream_gene_variant,,ENST00000493533,;	uc010ooe.1	c.2482G>A	2767/4329	2	2			c.2482G>A						1	SNP	c.(2482-2484)GTC>ATC	28	28				0	Broad	hypothetical protein LOC374977			55148429		0.622	ENSG00000184313	1973	g.chr1:55148429G>A		integral to membrane	binding							132.155411	KEEP	21	28	-1	41	53	21	28	-1	134.750661	41	53	0.352941	1	0	0	0	0	1	0	0	0	--	--		0	A			C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Missense_Mutation_p.V396I|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.V346I|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Missense_Mutation_p.V828I|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_Intron|C1orf175_uc001cxt.1_RNA|C1orf175_uc009vzr.1_Missense_Mutation_p.V30I	58	GBM-06-0644-TP	p.V828I	G	GGAGAAGCCCGTCACCAAGGA	NM_001039464	NP_001034553	55148429	Q68CQ1	HEAT8_HUMAN	0			14	2806	+	A	A			Missense_Mutation	828						
MROH7-TTC4	100527960	broad.mit.edu	GRCh37	1	55166995	55166995	+	splice_region_variant,synonymous_variant,NMD_transcript_variant	Splice_Region	SNP	C	C	T			TCGA-06-2558-01	TCGA-06-2558-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000414150.2:c.3285C>T		p.X1095_splice	ENST00000414150		1095	gaC/gaT	0	T:0	T:0.0008	1	T:0		T	D	uc010ooe.1	protein_coding	YES	CCDS41342.2			3285/3972										0	c.(3283-3285)GAC>GAT			hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF9,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	hypothetical protein LOC374977		T:0	T:0.0002	ENSP00000396622	T:0	19/24	0.000463	0.000119			0.00535	0.000417			rs200991427,COSM2152579,COSM3400892,COSM2152578	19/24	common_variant		ENST00000421030	Transcript		T:0.0002		integral to membrane	binding	ENSG00000184313	g.chr1:55166995C>T	24802			LOW								--	--	1																																		C1orf175_uc001cxq.2_RNA|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Silent_p.D613D|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA|C1orf175_uc009vzr.1_Silent_p.D297D	0,1,1,1	1			p.D1095D	NM_001039464	NP_001034553	T:0		0,1,1,1	MROH7_HUMAN	MROH7	HGNC	Q68CQ1	HEAT8_HUMAN			C9K0L2_HUMAN,B7ZBM2_HUMAN		19	3609	+			UPI000198C4E2	1095			HEAT 3.		SNV	MROH7,splice_region_variant,p.=,ENST00000421030,NM_001039464.2;MROH7,splice_region_variant,p.=,ENST00000409996,;MROH7,splice_region_variant,p.=,ENST00000454855,;MROH7,downstream_gene_variant,,ENST00000339553,;MROH7,downstream_gene_variant,,ENST00000395690,;MROH7,downstream_gene_variant,,ENST00000545244,;MROH7-TTC4,splice_region_variant,,ENST00000425300,;MROH7-TTC4,splice_region_variant,p.=,ENST00000414150,;MROH7-TTC4,splice_region_variant,,ENST00000606515,;MROH7,splice_region_variant,,ENST00000413188,;MROH7,splice_region_variant,,ENST00000371287,;MROH7,splice_region_variant,,ENST00000422659,;MROH7,splice_region_variant,,ENST00000440047,;MROH7-TTC4,splice_region_variant,,ENST00000460155,;MROH7,splice_region_variant,,ENST00000440217,;MROH7,downstream_gene_variant,,ENST00000438846,;	uc010ooe.1	c.3285C>T	3570/4329	2	2			c.3285C>T						1	SNP	c.(3283-3285)GAC>GAT	44	44				0	Broad	hypothetical protein LOC374977			55166995		0.592	ENSG00000184313	1973	g.chr1:55166995C>T		integral to membrane	binding							32.034434	KEEP	6	6	-1	14	13	6	6	-1	33.235638	14	13	0.305556	1	0	0	0	0	0	0	1	0	--	--		0	T			C1orf175_uc001cxq.2_RNA|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Silent_p.D613D|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA|C1orf175_uc009vzr.1_Silent_p.D297D	82	GBM-06-2558-TP	p.D1095D	C	ACTTCAGCGACGTGAGGACCT	NM_001039464	NP_001034553	55166995	Q68CQ1	HEAT8_HUMAN	0			19	3609	+	T	T			Silent	1095			HEAT 3.			
MROH8	0	broad.mit.edu	GRCh37	20	35776290	35776290	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-19-5955-01	TCGA-19-5955-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343811.4:c.1177T>G	p.Leu393Arg	p.L393R	ENST00000343811	NM_152503.4	393	cTt/cGt	0			1			C	L/R	uc010zvu.1	protein_coding	YES				1178/3210										0	c.(1126-1128)CTT>CGT			Gene3D:1.25.10.10,hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF4,Superfamily_domains:SSF48371	hypothetical protein LOC140699 isoform 1				ENSP00000339971		24-Sep									COSM3405052	24-Sep	.		ENST00000343811	Transcript						ENSG00000101353	g.chr20:35776290A>C	16125			MODERATE		2.095	medium	getma.org/?cm=msa&ty=f&p=CT132_HUMAN&rb=47&re=479&var=L251R	NA	getma.org/?cm=var&var=hg19,20,35776290,A,C&fts=all	L251R	--	--	1																																		C20orf132_uc002xgk.2_Missense_Mutation_p.L49R|C20orf132_uc002xgm.2_Missense_Mutation_p.L376R|C20orf132_uc002xgn.2_Missense_Mutation_p.L341R	1	1		probably_damaging(1)	p.L376R	NM_152503	NP_689716		deleterious(0)	1		MROH8	HGNC	Q9H579	CT132_HUMAN			Q5JYR0_HUMAN,Q5JYQ9_HUMAN		12	1218	-		Myeloproliferative disorder(115;0.00878)	UPI0000E5A31D	251					SNV	MROH8,missense_variant,p.Leu393Arg,ENST00000343811,NM_152503.4;MROH8,missense_variant,p.Leu366Arg,ENST00000400441,;MROH8,missense_variant,p.Leu352Arg,ENST00000441008,;MROH8,missense_variant,p.Leu246Arg,ENST00000217333,;MROH8,missense_variant,p.Leu45Arg,ENST00000417458,;MROH8,missense_variant,p.Leu397Arg,ENST00000400440,NM_213631.1;MROH8,missense_variant,p.Leu368Arg,ENST00000421643,NM_213632.1;	uc010zvu.1	c.1127T>G	1177/3425	3	3			c.1127T>G						20	SNP	c.(1126-1128)CTT>CGT	12	12				0	Broad	hypothetical protein LOC140699 isoform 1			35776290		0.478	ENSG00000101353	2043	g.chr20:35776290A>C										13.999981	KEEP	5	4	-1	15	15	5	4	-1	17.348009	15	15	0.189189	1	0	0	0	0	1	0	0	0	--	--		0	C			C20orf132_uc002xgk.2_Missense_Mutation_p.L49R|C20orf132_uc002xgm.2_Missense_Mutation_p.L376R|C20orf132_uc002xgn.2_Missense_Mutation_p.L341R	175	GBM-19-5955-TP	p.L376R	A	TAGGTGTCCAAGTCTTTGGAA	NM_152503	NP_689716	35776290	Q9H579	CT132_HUMAN	0			12	1218	-	C	C		Myeloproliferative disorder(115;0.00878)	Missense_Mutation	251						
MROH9	80133	broad.mit.edu	GRCh37	1	170961421	170961421	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01	TCGA-06-0195-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367759.4:c.1145C>T	p.Thr382Met	p.T382M	ENST00000367759	NM_001163629.1	382	aCg/aTg	0			1			T	T/M	uc001ghg.2	protein_coding		CCDS41436.1			1145/1722									pancreas(1)	1	c.(1144-1146)ACG>ATG			Gene3D:1.25.10.10,hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF5,Superfamily_domains:SSF48371	hypothetical protein LOC80133 isoform 2				ENSP00000356732		15-Dec	4.14E-05			0.000116		6.00E-05			rs201493255,COSM3399990,COSM3399989	15-Dec	.		ENST00000367758	Transcript					binding	ENSG00000117501	g.chr1:170961421C>T	26287			MODERATE		0.145	neutral	getma.org/?cm=msa&ty=f&p=CA129_HUMAN&rb=30&re=530&var=T382M	NA	getma.org/?cm=var&var=hg19,1,170961421,C,T&fts=all	T382M	--	--	1																																		C1orf129_uc009wvy.2_Missense_Mutation_p.T189M|C1orf129_uc010plz.1_Missense_Mutation_p.T382M	0,1,1			benign(0.01)	p.T382M	NM_025063	NP_079339		tolerated(0.33)	0,1,1	MROH9_HUMAN	MROH9	HGNC	Q5TGP6	CA129_HUMAN					12	1275	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		UPI0000470977	382					SNV	MROH9,missense_variant,p.Thr382Met,ENST00000367759,NM_001163629.1;MROH9,missense_variant,p.Thr382Met,ENST00000367758,NM_025063.2;MROH9,upstream_gene_variant,,ENST00000426136,;	uc001ghg.2	c.1145C>T	1244/2227	1	1			c.1145C>T						1	SNP	c.(1144-1146)ACG>ATG	1	1			pancreas(1)	1	Broad	hypothetical protein LOC80133 isoform 2			170961421		0.468	ENSG00000117501	1953	g.chr1:170961421C>T			binding							138.969057	KEEP	25	26	-1	40	47	25	26	-1	140.355033	40	47	0.387097	1	0	0	0	0	1	0	0	0	--	--		0	T			C1orf129_uc009wvy.2_Missense_Mutation_p.T189M|C1orf129_uc010plz.1_Missense_Mutation_p.T382M	45	GBM-06-0195-TP	p.T382M	C	GACACCGTAACGGAAGGGAAA	NM_025063	NP_079339	170961421	Q5TGP6	CA129_HUMAN	0			12	1275	+	T	T	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		Missense_Mutation	382						
MROH9	80133	broad.mit.edu	GRCh37	1	170961347	170961347	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367759.4:c.1071C>T	p.Ser357=	p.S357=	ENST00000367759	NM_001163629.1	357	agC/agT	0			1			T	S	uc001ghg.2	protein_coding		CCDS41436.1			1071/1722									pancreas(1)	1	c.(1069-1071)AGC>AGT			Gene3D:1.25.10.10,hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF5,Superfamily_domains:SSF48371	hypothetical protein LOC80133 isoform 2				ENSP00000356732		15-Dec	1.65E-05					1.52E-05		6.21E-05	rs760239861,COSM2152198,COSM2152197	15-Dec	.		ENST00000367758	Transcript					binding	ENSG00000117501	g.chr1:170961347C>T	26287			LOW								--	--	1																																		C1orf129_uc009wvy.2_Silent_p.S164S|C1orf129_uc010plz.1_Silent_p.S357S	0,1,1				p.S357S	NM_025063	NP_079339			0,1,1	MROH9_HUMAN	MROH9	HGNC	Q5TGP6	CA129_HUMAN					12	1201	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		UPI0000470977	357					SNV	MROH9,synonymous_variant,p.=,ENST00000367759,NM_001163629.1;MROH9,synonymous_variant,p.=,ENST00000367758,NM_025063.2;MROH9,upstream_gene_variant,,ENST00000426136,;	uc001ghg.2	c.1071C>T	1170/2227	2	2			c.1071C>T						1	SNP	c.(1069-1071)AGC>AGT	26	26			pancreas(1)	1	Broad	hypothetical protein LOC80133 isoform 2			170961347		0.493	ENSG00000117501	1953	g.chr1:170961347C>T			binding							43.321162	KEEP	9	9	-1	27	13	9	9	-1	44.912278	27	13	0.321429	1	0	0	0	0	0	0	1	0	--	--		0	T			C1orf129_uc009wvy.2_Silent_p.S164S|C1orf129_uc010plz.1_Silent_p.S357S	73	GBM-06-0877-TP	p.S357S	C	CTCAGGCGAGCGTGGCCCCTC	NM_025063	NP_079339	170961347	Q5TGP6	CA129_HUMAN	0			12	1201	+	T	T	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		Silent	357						
MROH9	0	broad.mit.edu	GRCh37	1	170928687	170928687	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-19-1390-01	TCGA-19-1390-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367758.3:c.237T>G	p.Leu79=	p.L79=	ENST00000367758	NM_025063.2	79	ctT/ctG	0	G:0.0005		1			G	L	uc001ghg.2	protein_coding		CCDS41436.1			237/1722									pancreas(1)	1	c.(235-237)CTT>CTG			hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF5	hypothetical protein LOC80133 isoform 2			G:0	ENSP00000356732		15-May	4.14E-05	0.000511							rs368711198,COSM3399988,COSM3399987	15-May	common_variant		ENST00000367758	Transcript					binding	ENSG00000117501	g.chr1:170928687T>G	26287			LOW								--	--	1																																		C1orf129_uc009wvy.2_5'UTR|C1orf129_uc010plz.1_Silent_p.L79L	0,1,1				p.L79L	NM_025063	NP_079339			0,1,1	MROH9_HUMAN	MROH9	HGNC	Q5TGP6	CA129_HUMAN					5	367	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		UPI0000470977	79					SNV	MROH9,synonymous_variant,p.=,ENST00000367759,NM_001163629.1;MROH9,synonymous_variant,p.=,ENST00000367758,NM_025063.2;	uc001ghg.2	c.237T>G	336/2227	3	3			c.237T>G						1	SNP	c.(235-237)CTT>CTG	6	6			pancreas(1)	1	Broad	hypothetical protein LOC80133 isoform 2			170928687		0.363	ENSG00000117501	1953	g.chr1:170928687T>G			binding							40.71792	KEEP	8	7	-1	23	31	8	7	-1	45.187917	23	31	0.222222	1	0	0	0	0	0	0	1	0	--	--		0	G			C1orf129_uc009wvy.2_5'UTR|C1orf129_uc010plz.1_Silent_p.L79L	159	GBM-19-1390-TP	p.L79L	T	TGCCAAGTCTTGACAAAGTAA	NM_025063	NP_079339	170928687	Q5TGP6	CA129_HUMAN	0			5	367	+	G	G	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		Silent	79						
MROH9	0	broad.mit.edu	GRCh37	1	170964598	170964598	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6282-01	TCGA-76-6282-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367758.3:c.1263C>T	p.Pro421=	p.P421=	ENST00000367758	NM_025063.2	421	ccC/ccT	0			1			T	P	uc001ghg.2	protein_coding		CCDS41436.1			1263/1722									pancreas(1)	1	c.(1261-1263)CCC>CCT			Gene3D:1.25.10.10,hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF5,Superfamily_domains:SSF48371	hypothetical protein LOC80133 isoform 2				ENSP00000356732		13/15									COSM3399992,COSM3399991,COSM3399993	13/15	.		ENST00000367758	Transcript					binding	ENSG00000117501	g.chr1:170964598C>T	26287			LOW								--	--	1																																		C1orf129_uc009wvy.2_Silent_p.P228P|C1orf129_uc010plz.1_Silent_p.P421P	1,1,1				p.P421P	NM_025063	NP_079339			1,1,1	MROH9_HUMAN	MROH9	HGNC	Q5TGP6	CA129_HUMAN					13	1393	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		UPI0000470977	421					SNV	MROH9,synonymous_variant,p.=,ENST00000367759,NM_001163629.1;MROH9,synonymous_variant,p.=,ENST00000367758,NM_025063.2;MROH9,synonymous_variant,p.=,ENST00000426136,;	uc001ghg.2	c.1263C>T	1362/2227	2	2			c.1263C>T						1	SNP	c.(1261-1263)CCC>CCT	43	43			pancreas(1)	1	Broad	hypothetical protein LOC80133 isoform 2			170964598		0.473	ENSG00000117501	1953	g.chr1:170964598C>T			binding							84.640489	KEEP	15	14	-1	23	41	15	14	-1	87.435689	23	41	0.315217	1	0	0	0	0	0	0	1	0	--	--		0	T			C1orf129_uc009wvy.2_Silent_p.P228P|C1orf129_uc010plz.1_Silent_p.P421P	278	GBM-76-6282-TP	p.P421P	C	AGTATTTCCCCCAGCTCTTGA	NM_025063	NP_079339	170964598	Q5TGP6	CA129_HUMAN	0			13	1393	+	T	T	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		Silent	421						
MRPL1	0	broad.mit.edu	GRCh37	4	78804480	78804480	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2638-01	TCGA-32-2638-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315567.8:c.228C>T	p.Pro76=	p.P76=	ENST00000315567	NM_020236.3	76	ccC/ccT	0			1			T	P	uc003hku.2	protein_coding	YES	CCDS3583.2			228/978										0	c.(226-228)CCC>CCT			Pfam_domain:PF13003	mitochondrial ribosomal protein L1 precursor				ENSP00000315017		9-Mar									COSM3409507	9-Mar	.		ENST00000315567	Transcript					RNA binding	ENSG00000169288	g.chr4:78804480C>T	14275			LOW								--	--	1																																		MRPL1_uc010iji.1_5'UTR	1	1			p.P76P	NM_020236	NP_064621			1	RM01_HUMAN	MRPL1	HGNC	Q9BYD6	RM01_HUMAN					3	426	+			UPI000020B07E	76					SNV	MRPL1,synonymous_variant,p.=,ENST00000315567,NM_020236.3;MRPL1,synonymous_variant,p.=,ENST00000502384,;MRPL1,non_coding_transcript_exon_variant,,ENST00000506674,;MRPL1,non_coding_transcript_exon_variant,,ENST00000511521,;MRPL1,non_coding_transcript_exon_variant,,ENST00000515625,;	uc003hku.2	c.228C>T	557/1490	2	2			c.228C>T						4	SNP	c.(226-228)CCC>CCT	45	45				0	Broad	mitochondrial ribosomal protein L1 precursor			78804480		0.323	ENSG00000169288	9594	g.chr4:78804480C>T			RNA binding							72.70483	KEEP	13	10	-1	19	30	13	10	-1	74.042186	19	30	0.348485	1	0	0	0	0	0	0	1	0	--	--		0	T			MRPL1_uc010iji.1_5'UTR	242	GBM-32-2638-TP	p.P76P	C	AAGCATATCCCTATATGGAAG	NM_020236	NP_064621	78804480	Q9BYD6	RM01_HUMAN	0			3	426	+	T	T			Silent	76						
MRPL10	124995		GRCh37	17	45905957	45905957	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0167-01	TCGA-06-0167-01																				ENST00000290208.7:c.162G>A	p.Arg54=	p.R54=	ENST00000290208		54	cgG/cgA	0																																																																																																																																																																																																																																												
MRPL13	28998	broad.mit.edu	GRCh37	8	121432169	121432170	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0157-01	TCGA-06-0157-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306185.3:c.315dup	p.Leu106ThrfsTer26	p.L106Tfs*26	ENST00000306185	NM_014078.5	105	-/A	0			1			T	-/X	uc003ypa.2	protein_coding	YES	CCDS6332.1			315-316/537									central_nervous_system(1)	1	c.(313-318)AAACTAfs			hmmpanther:PTHR11545:SF6,hmmpanther:PTHR11545,Pfam_domain:PF00572,TIGRFAM_domain:TIGR01066,Gene3D:3.90.1180.10,PIRSF_domain:PIRSF002181,Superfamily_domains:SSF52161	mitochondrial ribosomal protein L13				ENSP00000306548		7-May										7-May	.		ENST00000306185	Transcript			translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome	ENSG00000172172	g.chr8:121432169_121432170insT	14278			HIGH								--	--	1																																		MRPL13_uc010mdf.2_RNA		1			p.K105fs	NM_014078	NP_054797				RM13_HUMAN	MRPL13	HGNC	Q9BYD1	RM13_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		H0YAX3_HUMAN,E5RJI7_HUMAN		5	628_629	-	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		UPI00001342CD	105_106					insertion	MRPL13,frameshift_variant,p.Leu106ThrfsTer26,ENST00000306185,NM_014078.5;MRPL13,frameshift_variant,p.Leu82ThrfsTer26,ENST00000518918,;MRPL13,3_prime_UTR_variant,,ENST00000518696,;MRPL13,non_coding_transcript_exon_variant,,ENST00000520677,;MRPL13,upstream_gene_variant,,ENST00000523316,;	uc003ypa.2	c.315_316insA	607-608/1086	5	5			c.315_316insA						8	INS	c.(313-318)AAACTAfs	45	45			central_nervous_system(1)	1	Broad	mitochondrial ribosomal protein L13			121432170		0.356	ENSG00000172172	9598	g.chr8:121432169_121432170insT	translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome																				0.21	1	0	0	1	1	0	0	0	0	--	--		0	T			MRPL13_uc010mdf.2_RNA	28	GBM-06-0157-TP	p.K105fs	-	TAAATAGCTAGTTTTACAATCT	NM_014078	NP_054797	121432169	Q9BYD1	RM13_HUMAN	0	STAD - Stomach adenocarcinoma(47;0.00503)		5	628_629	-	T	T	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		Frame_Shift_Ins	105_106						
MRPL23	6150	broad.mit.edu	GRCh37	11	1973439	1973439	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0648-01	TCGA-06-0648-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397298.3:c.223G>C	p.Gly75Arg	p.G75R	ENST00000397298	NM_021134.3	75	Ggc/Cgc	0			1			C	G/R	uc001lux.2	protein_coding		CCDS31336.1			223/462									large_intestine(2)|ovary(1)	3	c.(223-225)GGC>CGC			hmmpanther:PTHR12059:SF5,hmmpanther:PTHR12059,Gene3D:3.30.70.330,Pfam_domain:PF00276,Superfamily_domains:SSF54189	mitochondrial ribosomal protein L23				ENSP00000370930		6-Mar									COSM2151358	6-Mar	.		ENST00000381519	Transcript			translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome	ENSG00000214026	g.chr11:1973439G>C	10322			MODERATE		3.395	medium	getma.org/?cm=msa&ty=f&p=RM23_HUMAN&rb=30&re=109&var=G75R	getma.org/pdb.php?prot=RM23_HUMAN&from=30&to=109&var=G75R	getma.org/?cm=var&var=hg19,11,1973439,G,C&fts=all	G75R	--	--	1																																			1			probably_damaging(0.998)	p.G75R	NM_021134	NP_066957		deleterious(0)	1	RM23_HUMAN	MRPL23	HGNC	Q16540	RM23_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)			3	314	+		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	UPI000006EBEF	75					SNV	MRPL23,missense_variant,p.Gly75Arg,ENST00000381514,;MRPL23,missense_variant,p.Gly75Arg,ENST00000397298,NM_021134.3;MRPL23,missense_variant,p.Gly75Arg,ENST00000381519,;MRPL23,missense_variant,p.Gly75Arg,ENST00000397297,;MRPL23,missense_variant,p.Gly75Arg,ENST00000397294,;MRPL23,splice_region_variant,,ENST00000462288,;MRPL23,downstream_gene_variant,,ENST00000486931,;MRPL23,upstream_gene_variant,,ENST00000484918,;MRPL23,missense_variant,p.Gly70Arg,ENST00000429295,;MRPL23,splice_region_variant,,ENST00000466346,;	uc001lux.2	c.223G>C	308/643	4	4			c.223G>C						11	SNP	c.(223-225)GGC>CGC	35	35			large_intestine(2)|ovary(1)	3	Broad	mitochondrial ribosomal protein L23			1973439		0.602	ENSG00000214026	9608	g.chr11:1973439G>C	translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome							92.114144	KEEP	16	16	-1	15	21	16	16	-1	92.195795	15	21	0.462687	1	0	0	0	0	1	0	0	0	--	--		0	C				61	GBM-06-0648-TP	p.G75R	G	GGTGCAGCATGGTGAGTGCCC	NM_021134	NP_066957	1973439	Q16540	RM23_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)	3	314	+	C	C		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	Missense_Mutation	75						
MRPL3	11222		GRCh37	3	131190114	131190114	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000264995.3:c.639A>G	p.Lys213=	p.K213=	ENST00000264995	NM_007208.3	213	aaA/aaG	0																																																																																																																																																																																																																																												
MRPL30	0	broad.mit.edu	GRCh37	2	99811636	99811636	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-19-1390-01	TCGA-19-1390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338148.3:c.337G>C	p.Val113Leu	p.V113L	ENST00000338148	NM_145212.3	113	Gtt/Ctt	0			1			C	V/L	uc002szu.2	protein_coding	YES	CCDS2041.1			337/486									ovary(1)	1	c.(337-339)GTT>CTT			Superfamily_domains:SSF55129,Gene3D:3.30.1390.20,Pfam_domain:PF00327,hmmpanther:PTHR15892:SF2,hmmpanther:PTHR15892	RecName: Full=39S ribosomal protein L30, mitochondrial;          Short=L30mt; AltName: Full=MRP-L30; AltName: Full=MRP-L28; Flags: Precursor;				ENSP00000338057		6-May									COSM3408048	6-May	.		ENST00000338148	Transcript			translation	mitochondrion|ribosome	structural constituent of ribosome	ENSG00000185414	g.chr2:99811636G>C	14036			MODERATE		2.95	medium	getma.org/?cm=msa&ty=f&p=RM30_HUMAN&rb=66&re=117&var=V113L	NA	getma.org/?cm=var&var=hg19,2,99811636,G,C&fts=all	V113L	--	--	1																																		MRPL30_uc002szl.1_RNA|MRPL30_uc002szr.2_Missense_Mutation_p.V113L|MRPL30_uc002szt.1_RNA|MRPL30_uc002szv.2_Missense_Mutation_p.V113L	1	1		possibly_damaging(0.795)	p.V113L	NM_145213	NP_660214		deleterious(0.01)	1	RM30_HUMAN	MRPL30	HGNC	Q8TCC3	RM30_HUMAN					5	499	+			UPI000007110A	113					SNV	MRPL30,missense_variant,p.Val113Leu,ENST00000338148,NM_145212.3;C2orf15,missense_variant,p.Val113Leu,ENST00000512183,;MRPL30,missense_variant,p.Val113Leu,ENST00000410042,;MRPL30,downstream_gene_variant,,ENST00000409145,;MRPL30,non_coding_transcript_exon_variant,,ENST00000465432,;MRPL30,non_coding_transcript_exon_variant,,ENST00000473743,;C2orf15,missense_variant,p.Val143Leu,ENST00000424491,;MRPL30,missense_variant,p.Val113Leu,ENST00000409841,;	uc002szu.2	c.337G>C	535/2605	3	3			c.337G>C						2	SNP	c.(337-339)GTT>CTT	12	12			ovary(1)	1	Broad	RecName: Full=39S ribosomal protein L30, mitochondrial;          Short=L30mt; AltName: Full=MRP-L30; AltName: Full=MRP-L28; Flags: Precursor;			99811636		0.333	ENSG00000185414	9613	g.chr2:99811636G>C	translation	mitochondrion|ribosome	structural constituent of ribosome							110.993332	KEEP	16	19	-1	49	49	16	19	-1	117.014934	49	49	0.269841	1	0	0	0	0	1	0	0	0	--	--		0	C			MRPL30_uc002szl.1_RNA|MRPL30_uc002szr.2_Missense_Mutation_p.V113L|MRPL30_uc002szt.1_RNA|MRPL30_uc002szv.2_Missense_Mutation_p.V113L	159	GBM-19-1390-TP	p.V113L	G	ATTGAAAGTAGTTAAGCATTT	NM_145213	NP_660214	99811636	Q8TCC3	RM30_HUMAN	0			5	499	+	C	C			Missense_Mutation	113						
MRPL32	64983	broad.mit.edu	GRCh37	7	42977165	42977165	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01	TCGA-06-0126-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000223324.2:c.557C>T	p.Thr186Ile	p.T186I	ENST00000223324	NM_031903.2	186	aCc/aTc	0			1			T	T/I	uc003tia.2	protein_coding	YES	CCDS5468.1			557/567										0	c.(556-558)ACC>ATC			hmmpanther:PTHR21026,hmmpanther:PTHR21026:SF2	mitochondrial ribosomal protein L32 precursor				ENSP00000223324		3-Mar									COSM2149445	3-Mar	.		ENST00000223324	Transcript			translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome	ENSG00000106591	g.chr7:42977165C>T	14035			MODERATE		1.055	low	getma.org/?cm=msa&ty=f&p=RM32_HUMAN&rb=138&re=188&var=T186I	NA	getma.org/?cm=var&var=hg19,7,42977165,C,T&fts=all	T186I	--	--	1																																		MRPL32_uc003tib.2_RNA|MRPL32_uc003tic.2_Missense_Mutation_p.T133I	1	1		benign(0.103)	p.T186I	NM_031903	NP_114109		tolerated(0.05)	1	RM32_HUMAN	MRPL32	HGNC	Q9BYC8	RM32_HUMAN			A4D1V4_HUMAN		3	604	+			UPI00001342E5	186					SNV	MRPL32,missense_variant,p.Thr186Ile,ENST00000223324,NM_031903.2;MRPL32,intron_variant,,ENST00000496564,;MRPL32,3_prime_UTR_variant,,ENST00000432845,;MRPL32,3_prime_UTR_variant,,ENST00000413995,;	uc003tia.2	c.557C>T	744/1035	2	2			c.557C>T						7	SNP	c.(556-558)ACC>ATC	45	45				0	Broad	mitochondrial ribosomal protein L32 precursor			42977165		0.418	ENSG00000106591	9614	g.chr7:42977165C>T	translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome							57.652049	KEEP	13	12	-1	24	30	13	12	-1	60.447449	24	30	0.291667	1	0	0	0	0	1	0	0	0	--	--		0	T			MRPL32_uc003tib.2_RNA|MRPL32_uc003tic.2_Missense_Mutation_p.T133I	13	GBM-06-0126-TP	p.T186I	C	TCCTGGTTCACCCAGAATTGA	NM_031903	NP_114109	42977165	Q9BYC8	RM32_HUMAN	0			3	604	+	T	T			Missense_Mutation	186						
MRPL32	0	broad.mit.edu	GRCh37	7	42977023	42977023	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-41-2575-01	TCGA-41-2575-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000223324.2:c.415C>T	p.Arg139Ter	p.R139*	ENST00000223324	NM_031903.2	139	Cga/Tga	0			1			T	R/*	uc003tia.2	protein_coding	YES	CCDS5468.1			415/567										0	c.(415-417)CGA>TGA			hmmpanther:PTHR21026,hmmpanther:PTHR21026:SF2	mitochondrial ribosomal protein L32 precursor				ENSP00000223324		3-Mar									COSM3412051	3-Mar	.		ENST00000223324	Transcript			translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome	ENSG00000106591	g.chr7:42977023C>T	14035			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,42977023,C,T&fts=all	R139*	--	--	1																																		MRPL32_uc003tib.2_RNA|MRPL32_uc003tic.2_Nonsense_Mutation_p.R86*	1	1			p.R139*	NM_031903	NP_114109			1	RM32_HUMAN	MRPL32	HGNC	Q9BYC8	RM32_HUMAN			A4D1V4_HUMAN		3	462	+			UPI00001342E5	139					SNV	MRPL32,stop_gained,p.Arg139Ter,ENST00000223324,NM_031903.2;MRPL32,intron_variant,,ENST00000496564,;MRPL32,3_prime_UTR_variant,,ENST00000432845,;MRPL32,3_prime_UTR_variant,,ENST00000413995,;	uc003tia.2	c.415C>T	602/1035	5	1			c.415C>T						7	SNP	c.(415-417)CGA>TGA	16	16				0	Broad	mitochondrial ribosomal protein L32 precursor			42977023		0.493	ENSG00000106591	9614	g.chr7:42977023C>T	translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome							142.032954	KEEP	35	21	-1	84	78	35	21	-1	153.482207	84	78	0.257009	1	0	0	0	0	0	1	0	0	--	--		0	T			MRPL32_uc003tib.2_RNA|MRPL32_uc003tic.2_Nonsense_Mutation_p.R86*	253	GBM-41-2575-TP	p.R139*	C	AGAAATCAGACGACAGATAGG	NM_031903	NP_114109	42977023	Q9BYC8	RM32_HUMAN	0			3	462	+	T	T			Nonsense_Mutation	139						
MRPL55	128308		GRCh37	1	228294495	228294495	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000366731.5:c.461G>A	p.Arg154His	p.R154H	ENST00000366731		154	cGc/cAc	0																																																																																																																																																																																																																																												
MRPS12	6183	broad.mit.edu	GRCh37	19	39423173	39423173	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140018981	by1000genomes	TCGA-06-0209-01	TCGA-06-0209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000407800.2:c.250C>T	p.Arg84Trp	p.R84W	ENST00000407800	NM_021107.1	84	Cgg/Tgg	0		T:0	1	T:0		T	R/W	uc002okc.2	protein_coding		CCDS12525.1			250/417										0	c.(250-252)CGG>TGG			hmmpanther:PTHR11652,TIGRFAM_domain:TIGR00981,Pfam_domain:PF00164,Gene3D:2.40.50.140,PIRSF_domain:PIRSF002133,Superfamily_domains:SSF50249,Prints_domain:PR01034	mitochondrial ribosomal protein S12 precursor		T:0.002		ENSP00000308845	T:0	3-Mar	4.12E-05			0.000581					rs140018981,COSM3404207	3-Mar	common_variant		ENST00000308018	Transcript		T:0.0004	translation	mitochondrial ribosome|small ribosomal subunit	protein binding|structural constituent of ribosome	ENSG00000128626	g.chr19:39423173C>T	10380			MODERATE		4.08	high	getma.org/?cm=msa&ty=f&p=RT12_HUMAN&rb=31&re=138&var=R84W	getma.org/pdb.php?prot=RT12_HUMAN&from=31&to=138&var=R84W	getma.org/?cm=var&var=hg19,19,39423173,C,T&fts=all	R84W	--	--	1																																		SARS2_uc002ojz.2_5'Flank|SARS2_uc010xup.1_5'Flank|SARS2_uc002oka.2_5'Flank|SARS2_uc002okb.2_5'Flank|SARS2_uc010xuq.1_Intron|SARS2_uc010xur.1_5'Flank|SARS2_uc010xus.1_5'Flank|MRPS12_uc002okd.2_Missense_Mutation_p.R84W|MRPS12_uc002oke.2_Missense_Mutation_p.R84W	0,1			probably_damaging(0.997)	p.R84W	NM_033362	NP_203526	T:0	deleterious(0)	0,1	RT12_HUMAN	MRPS12	HGNC	O15235	RT12_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)				3	560	+	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		UPI0000135267	84					SNV	MRPS12,missense_variant,p.Arg84Trp,ENST00000407800,NM_021107.1;MRPS12,missense_variant,p.Arg84Trp,ENST00000308018,NM_033362.3;MRPS12,missense_variant,p.Arg84Trp,ENST00000402029,NM_033363.1;SARS2,intron_variant,,ENST00000448145,;CTC-360G5.8,intron_variant,,ENST00000599996,;SARS2,upstream_gene_variant,,ENST00000221431,NM_017827.3;SARS2,upstream_gene_variant,,ENST00000430193,;SARS2,upstream_gene_variant,,ENST00000594171,;SARS2,upstream_gene_variant,,ENST00000600042,NM_001145901.1;CTC-360G5.9,downstream_gene_variant,,ENST00000599320,;SARS2,upstream_gene_variant,,ENST00000455102,;SARS2,upstream_gene_variant,,ENST00000598598,;MRPS12,downstream_gene_variant,,ENST00000598734,;SARS2,upstream_gene_variant,,ENST00000593754,;SARS2,upstream_gene_variant,,ENST00000598343,;	uc002okc.2	c.250C>T	720/1207	2	2			c.250C>T						19	SNP	c.(250-252)CGG>TGG	33	33				0	Broad	mitochondrial ribosomal protein S12 precursor			39423173		0.662	ENSG00000128626	9642	g.chr19:39423173C>T	translation	mitochondrial ribosome|small ribosomal subunit	protein binding|structural constituent of ribosome							41.312398	KEEP	12	15	-1	63	58	12	15	-1	50.516366	63	58	0.196262	1	0	0	0	0	1	0	0	0	--	--		0	T			SARS2_uc002ojz.2_5'Flank|SARS2_uc010xup.1_5'Flank|SARS2_uc002oka.2_5'Flank|SARS2_uc002okb.2_5'Flank|SARS2_uc010xuq.1_Intron|SARS2_uc010xur.1_5'Flank|SARS2_uc010xus.1_5'Flank|MRPS12_uc002okd.2_Missense_Mutation_p.R84W|MRPS12_uc002oke.2_Missense_Mutation_p.R84W	46	GBM-06-0209-TP	p.R84W	C	CTGTCGAGTGCGGCTCAGCAC	NM_033362	NP_203526	39423173	O15235	RT12_HUMAN	0	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		3	560	+	T	T	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Missense_Mutation	84						
MRPS25	0	broad.mit.edu	GRCh37	3	15094113	15094115	+	inframe_deletion	In_Frame_Del	DEL	CTC	CTC	-			TCGA-19-2629-01	TCGA-19-2629-01	CTC	CTC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000253686.2:c.355_357delGAG	p.Glu119del	p.E119del	ENST00000253686	NM_022497.3	119	GAG/-	0	-:0.0002		1			-	E/-	uc003bzl.2	protein_coding	YES	CCDS2622.1			355-357/522										0	c.(355-357)GAGdel			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13274:SF1,hmmpanther:PTHR13274	mitochondrial ribosomal protein S25			-:0.0001	ENSP00000253686		4-Apr	0.000107	9.73E-05		0.000927		4.52E-05		6.10E-05	rs755494528	4-Apr	common_variant		ENST00000253686	Transcript			translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	ENSG00000131368	g.chr3:15094113_15094115delCTC	14511			MODERATE								--	--	1																																		MRPS25_uc011avl.1_In_Frame_Del_p.89_90RR>R|MRPS25_uc011avm.1_Intron		1			p.E119del	NM_022497	NP_071942				RT25_HUMAN	MRPS25	HGNC	P82663	RT25_HUMAN			Q96Q22_HUMAN,E7EPW2_HUMAN		4	470_472	-			UPI00001352A0	119					deletion	MRPS25,inframe_deletion,p.Glu119del,ENST00000253686,NM_022497.3;MRPS25,inframe_deletion,p.Arg90del,ENST00000444840,;MRPS25,intron_variant,,ENST00000449354,;NR2C2,intron_variant,,ENST00000439011,;NR2C2,intron_variant,,ENST00000413194,;MRPS25,upstream_gene_variant,,ENST00000496484,;MRPS25,upstream_gene_variant,,ENST00000474866,;MRPS25,3_prime_UTR_variant,,ENST00000447299,;MRPS25,intron_variant,,ENST00000420267,;	uc003bzl.2	c.355_357delGAG	496-498/4586	5	5			c.355_357delGAG						3	DEL	c.(355-357)GAGdel	54	54				0	Broad	mitochondrial ribosomal protein S25			15094115		0.586	ENSG00000131368	9655	g.chr3:15094113_15094115delCTC	translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome																				0.13	1	1	0	1	0	0	0	0	0	--	--		0	-			MRPS25_uc011avl.1_In_Frame_Del_p.89_90RR>R|MRPS25_uc011avm.1_Intron	166	GBM-19-2629-TP	p.E119del	CTC	GCTGCTTTTTCTCCTCCTCCTCT	NM_022497	NP_071942	15094113	P82663	RT25_HUMAN	0			4	470_472	-	-	-			In_Frame_Del	119						
MRPS26	0	broad.mit.edu	GRCh37	20	3027090	3027090	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-28-2513-01	TCGA-28-2513-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380325.3:c.286delC	p.Leu96Ter	p.L96*	ENST00000380325	NM_030811.3	95	gCc/gc	0			1			-	A/X	uc002whs.2	protein_coding	YES	CCDS13043.1			284/618										0	c.(283-285)GCCfs			hmmpanther:PTHR21035:SF2,hmmpanther:PTHR21035,Pfam_domain:PF14943	mitochondrial ribosomal protein S26 precursor				ENSP00000369682		4-Feb										4-Feb	.		ENST00000380325	Transcript			DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit		ENSG00000125901	g.chr20:3027090delC	14045	2		HIGH								--	--	1																																				1			p.A95fs	NM_030811	NP_110438				RT26_HUMAN	MRPS26	HGNC	Q9BYN8	RT26_HUMAN					2	324	+			UPI00001352A1	95					deletion	MRPS26,frameshift_variant,p.Leu96Ter,ENST00000380325,NM_030811.3;GNRH2,downstream_gene_variant,,ENST00000380347,;GNRH2,downstream_gene_variant,,ENST00000245983,NM_001501.1;GNRH2,downstream_gene_variant,,ENST00000359100,;GNRH2,downstream_gene_variant,,ENST00000359987,NM_178331.1,NM_178332.1;GNRH2,downstream_gene_variant,,ENST00000380346,;	uc002whs.2	c.284delC	408/1127	5	5			c.284delC						20	DEL	c.(283-285)GCCfs	30	30				0	Broad	mitochondrial ribosomal protein S26 precursor			3027090		0.627	ENSG00000125901	9656	g.chr20:3027090delC	DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit																					0.33	1	1	0	1	0	0	0	0	0	--	--		0	-				213	GBM-28-2513-TP	p.A95fs	C	GAGCGCAAGGCCCTGAAGGAC	NM_030811	NP_110438	3027090	Q9BYN8	RT26_HUMAN	0			2	324	+	-	-			Frame_Shift_Del	95						
MRPS34	0	broad.mit.edu	GRCh37	16	1823074	1823075	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-28-5218-01	TCGA-28-5218-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397375.2:c.46dupC	p.Arg16ProfsTer110	p.R16Pfs*110	ENST00000397375	NM_023936.1	16	cgc/cCgc	0			1			G	R/PX	uc002cmo.2	protein_coding	YES	CCDS10444.1			46-47/657									skin(2)	2	c.(46-48)CGCfs			Low_complexity_(Seg):seg	mitochondrial ribosomal protein S34				ENSP00000380531		3-Jan										3-Jan	.		ENST00000397375	Transcript				mitochondrion|ribosome	protein binding	ENSG00000074071	g.chr16:1823074_1823075insG	16618			HIGH								--	--	1																																		NME3_uc002cmm.2_5'Flank|NME3_uc010brv.2_5'Flank|MRPS34_uc002cmn.2_5'Flank|MRPS34_uc002cmp.1_Frame_Shift_Ins_p.R16fs|EME2_uc002cmq.1_5'Flank|EME2_uc010brw.1_5'Flank		1			p.R16fs	NM_023936	NP_076425				RT34_HUMAN	MRPS34	HGNC	P82930	RT34_HUMAN					1	66_67	-			UPI0000049FE2	16					insertion	MRPS34,frameshift_variant,p.Arg16ProfsTer117,ENST00000177742,;MRPS34,frameshift_variant,p.Arg16ProfsTer110,ENST00000397375,NM_023936.1;MAPK8IP3,downstream_gene_variant,,ENST00000250894,NM_015133.3;MAPK8IP3,downstream_gene_variant,,ENST00000356010,NM_001040439.1;SPSB3,downstream_gene_variant,,ENST00000566339,NM_080861.3;SPSB3,downstream_gene_variant,,ENST00000301717,;EME2,upstream_gene_variant,,ENST00000307394,;EME2,upstream_gene_variant,,ENST00000568449,NM_001257370.1;NME3,upstream_gene_variant,,ENST00000219302,NM_002513.2;NME3,upstream_gene_variant,,ENST00000563498,;NME3,upstream_gene_variant,,ENST00000564628,;SPSB3,downstream_gene_variant,,ENST00000569769,;EME2,upstream_gene_variant,,ENST00000570069,;EME2,upstream_gene_variant,,ENST00000561903,;SPSB3,downstream_gene_variant,,ENST00000564709,;SPSB3,downstream_gene_variant,,ENST00000569380,;SPSB3,downstream_gene_variant,,ENST00000563741,;SPSB3,downstream_gene_variant,,ENST00000567868,;SPSB3,downstream_gene_variant,,ENST00000563668,;NME3,upstream_gene_variant,,ENST00000561637,;NME3,upstream_gene_variant,,ENST00000566600,;NME3,upstream_gene_variant,,ENST00000565379,;SPSB3,downstream_gene_variant,,ENST00000565550,;NME3,upstream_gene_variant,,ENST00000563367,;MAPK8IP3,downstream_gene_variant,,ENST00000563868,;SPSB3,downstream_gene_variant,,ENST00000563705,;MAPK8IP3,downstream_gene_variant,,ENST00000564868,;NME3,upstream_gene_variant,,ENST00000568561,;NME3,upstream_gene_variant,,ENST00000567271,;MRPS34,upstream_gene_variant,,ENST00000569585,;NME3,upstream_gene_variant,,ENST00000564252,;NME3,upstream_gene_variant,,ENST00000563854,;EME2,upstream_gene_variant,,ENST00000564182,;EME2,upstream_gene_variant,,ENST00000561564,;EME2,upstream_gene_variant,,ENST00000565326,;	uc002cmo.2	c.46_47insC	82-83/1024	5	5			c.46_47insC						16	INS	c.(46-48)CGCfs	14	14			skin(2)	2	Broad	mitochondrial ribosomal protein S34			1823075		0.723	ENSG00000074071	9662	g.chr16:1823074_1823075insG		mitochondrion|ribosome	protein binding																				0.33	1	0	0	1	1	0	0	0	0	--	--		0	G			NME3_uc002cmm.2_5'Flank|NME3_uc010brv.2_5'Flank|MRPS34_uc002cmn.2_5'Flank|MRPS34_uc002cmp.1_Frame_Shift_Ins_p.R16fs|EME2_uc002cmq.1_5'Flank|EME2_uc010brw.1_5'Flank	224	GBM-28-5218-TP	p.R16fs	-	GCGCACGCGGCGGGCCAGCTCC	NM_023936	NP_076425	1823074	P82930	RT34_HUMAN	0			1	66_67	-	G	G			Frame_Shift_Ins	16						
MRPS7	51081	broad.mit.edu	GRCh37	17	73258761	73258761	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-06-0211-01	TCGA-06-0211-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245539.6:c.267A>T	p.Pro89=	p.P89=	ENST00000245539	NM_015971.3	89	ccA/ccT	0			1			T	P	uc002jnm.3	protein_coding	YES	CCDS11718.1			267/729									central_nervous_system(1)	1	c.(265-267)CCA>CCT			Gene3D:1.10.455.10,Pfam_domain:PF00177,hmmpanther:PTHR11205,hmmpanther:PTHR11205:SF19,Superfamily_domains:SSF47973	mitochondrial ribosomal protein S7 precursor				ENSP00000245539		5-Feb									COSM3403209	5-Feb	.		ENST00000245539	Transcript			translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome	ENSG00000125445	g.chr17:73258761A>T	14499			LOW								--	--	1																																		GGA3_uc002jni.1_5'Flank|GGA3_uc002jnj.1_5'Flank|GGA3_uc010wrw.1_5'Flank|GGA3_uc002jnk.1_5'Flank|GGA3_uc010wrx.1_5'Flank|GGA3_uc010wry.1_5'Flank|GGA3_uc010wrz.1_5'Flank|MRPS7_uc002jnl.2_Silent_p.P89P|MRPS7_uc002jnn.3_Silent_p.P118P	1	1			p.P89P	NM_015971	NP_057055			1	RT07_HUMAN	MRPS7	HGNC	Q9Y2R9	RT07_HUMAN	all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)		Q96Q63_HUMAN		2	500	+	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		UPI000013CBA7	89					SNV	MRPS7,synonymous_variant,p.=,ENST00000579761,;MRPS7,synonymous_variant,p.=,ENST00000579002,;MRPS7,synonymous_variant,p.=,ENST00000245539,NM_015971.3;MRPS7,synonymous_variant,p.=,ENST00000581993,;MRPS7,synonymous_variant,p.=,ENST00000584678,;GGA3,upstream_gene_variant,,ENST00000245541,NM_138619.2;GGA3,upstream_gene_variant,,ENST00000351904,NM_014001.3;GGA3,upstream_gene_variant,,ENST00000582486,NM_001172703.1;GGA3,upstream_gene_variant,,ENST00000582717,;GGA3,upstream_gene_variant,,ENST00000578348,NM_001172704.1;GGA3,upstream_gene_variant,,ENST00000538886,;MIF4GD,downstream_gene_variant,,ENST00000577542,;MIF4GD,downstream_gene_variant,,ENST00000579297,NM_020679.3,NM_001242498.1;MIF4GD,downstream_gene_variant,,ENST00000245551,NM_001242500.1;MIF4GD,downstream_gene_variant,,ENST00000325102,NM_001242501.1;GGA3,upstream_gene_variant,,ENST00000537686,;MIF4GD,downstream_gene_variant,,ENST00000580571,;MIF4GD,downstream_gene_variant,,ENST00000579119,;MIF4GD,downstream_gene_variant,,ENST00000580717,;MIF4GD,downstream_gene_variant,,ENST00000579612,;MIF4GD,downstream_gene_variant,,ENST00000578305,;GGA3,upstream_gene_variant,,ENST00000580799,;GGA3,upstream_gene_variant,,ENST00000579743,;MRPS7,3_prime_UTR_variant,,ENST00000583407,;MRPS7,non_coding_transcript_exon_variant,,ENST00000577767,;GGA3,upstream_gene_variant,,ENST00000582200,;GGA3,upstream_gene_variant,,ENST00000584978,;GGA3,upstream_gene_variant,,ENST00000537584,;GGA3,upstream_gene_variant,,ENST00000582821,;MIF4GD,downstream_gene_variant,,ENST00000577240,;GGA3,upstream_gene_variant,,ENST00000584243,;GGA3,upstream_gene_variant,,ENST00000582376,;GGA3,upstream_gene_variant,,ENST00000577435,;	uc002jnm.3	c.267A>T	494/1406	2	2			c.267A>T						17	SNP	c.(265-267)CCA>CCT	32	32			central_nervous_system(1)	1	Broad	mitochondrial ribosomal protein S7 precursor			73258761		0.473	ENSG00000125445	9667	g.chr17:73258761A>T	translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome							-24.831826	KEEP	7	4	-1	95	114	7	4	-1	19.258866	95	114	0.04902	1	0	0	0	0	0	0	1	0	--	--		0	T			GGA3_uc002jni.1_5'Flank|GGA3_uc002jnj.1_5'Flank|GGA3_uc010wrw.1_5'Flank|GGA3_uc002jnk.1_5'Flank|GGA3_uc010wrx.1_5'Flank|GGA3_uc010wry.1_5'Flank|GGA3_uc010wrz.1_5'Flank|MRPS7_uc002jnl.2_Silent_p.P89P|MRPS7_uc002jnn.3_Silent_p.P118P	48	GBM-06-0211-TP	p.P89P	A	TTGAAGACCCAGTCATCAGGT	NM_015971	NP_057055	73258761	Q9Y2R9	RT07_HUMAN	0	all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)		2	500	+	T	T	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		Silent	89						
MRPS7	51081		GRCh37	17	73258939	73258939	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000245539.6:c.330C>T	p.Leu110=	p.L110=	ENST00000245539	NM_015971.3	110	ctC/ctT	0																																																																																																																																																																																																																																												
MRTO4	0	broad.mit.edu	GRCh37	1	19584431	19584431	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-14-0787-01	TCGA-14-0787-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330263.4:c.446T>G	p.Met149Arg	p.M149R	ENST00000330263	NM_016183.3	149	aTg/aGg	0			1			G	M/R	uc001bbs.2	protein_coding	YES	CCDS191.1			446/720										0	c.(445-447)ATG>AGG			hmmpanther:PTHR21141	mRNA turnover 4 homolog				ENSP00000364320		8-Jun									COSM2124521	8-Jun	.		ENST00000330263	Transcript			ribosome biogenesis	nuclear membrane|nucleolus		ENSG00000053372	g.chr1:19584431T>G	18477			MODERATE		2.875	medium	getma.org/?cm=msa&ty=f&p=MRT4_HUMAN&rb=122&re=239&var=M149R	getma.org/pdb.php?prot=MRT4_HUMAN&from=122&to=239&var=M149R	getma.org/?cm=var&var=hg19,1,19584431,T,G&fts=all	M149R	--	--	1																																			1	1		benign(0.372)	p.M149R	NM_016183	NP_057267		deleterious(0)	1	MRT4_HUMAN	MRTO4	HGNC	Q9UKD2	MRT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)			6	701	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	UPI00000467E9	149					SNV	MRTO4,missense_variant,p.Met149Arg,ENST00000330263,NM_016183.3;MRTO4,non_coding_transcript_exon_variant,,ENST00000479559,;MRTO4,downstream_gene_variant,,ENST00000493700,;	uc001bbs.2	c.446T>G	743/2315	3	3			c.446T>G						1	SNP	c.(445-447)ATG>AGG	3	3				0	Broad	mRNA turnover 4 homolog			19584431		0.597	ENSG00000053372	9671	g.chr1:19584431T>G	ribosome biogenesis	nuclear membrane|nucleolus		GBM(192;2418 3032 7540 48714)			GBM(192;2418 3032 7540 48714)			-29.988784	KEEP	15	4	-1	87	115	15	4	-1	6.719922	87	115	0.053254	1	0	0	0	0	1	0	0	0	--	--		0	G				135	GBM-14-0787-TP	p.M149R	T	CCCCACTCCATGGAGCCACAG	NM_016183	NP_057267	19584431	Q9UKD2	MRT4_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	701	+	G	G		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	149						
MRTO4	0	broad.mit.edu	GRCh37	1	19584462	19584462	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0789-01	TCGA-14-0789-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330263.4:c.477C>T	p.Pro159=	p.P159=	ENST00000330263	NM_016183.3	159	ccC/ccT	0			1			T	P	uc001bbs.2	protein_coding	YES	CCDS191.1			477/720										0	c.(475-477)CCC>CCT			hmmpanther:PTHR21141	mRNA turnover 4 homolog				ENSP00000364320		8-Jun									COSM3400142	8-Jun	.		ENST00000330263	Transcript			ribosome biogenesis	nuclear membrane|nucleolus		ENSG00000053372	g.chr1:19584462C>T	18477			LOW								--	--	1																																			1	1			p.P159P	NM_016183	NP_057267			1	MRT4_HUMAN	MRTO4	HGNC	Q9UKD2	MRT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)			6	732	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	UPI00000467E9	159					SNV	MRTO4,synonymous_variant,p.=,ENST00000330263,NM_016183.3;MRTO4,non_coding_transcript_exon_variant,,ENST00000479559,;MRTO4,downstream_gene_variant,,ENST00000493700,;	uc001bbs.2	c.477C>T	774/2315	1	1			c.477C>T						1	SNP	c.(475-477)CCC>CCT	2	2				0	Broad	mRNA turnover 4 homolog			19584462		0.592	ENSG00000053372	9671	g.chr1:19584462C>T	ribosome biogenesis	nuclear membrane|nucleolus		GBM(192;2418 3032 7540 48714)			GBM(192;2418 3032 7540 48714)			44.477131	KEEP	19	14	-1	45	66	19	14	-1	55.32917	45	66	0.190083	1	0	0	0	0	0	0	1	0	--	--		0	T				136	GBM-14-0789-TP	p.P159P	C	TGGGCCTGCCCACCGCCCTCA	NM_016183	NP_057267	19584462	Q9UKD2	MRT4_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	732	+	T	T		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	Silent	159						
MRVI1	0	broad.mit.edu	GRCh37	11	10673684	10673684	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-1442-01	TCGA-26-1442-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000423302.2:c.113C>T	p.Ala38Val	p.A38V	ENST00000423302	NM_130385.3	38	gCg/gTg	0	A:0.0002		1			A	A/V	uc010rcc.1	protein_coding	YES	CCDS55746.1			113/2739									ovary(2)|central_nervous_system(1)	3	c.(112-114)GCG>GTG			hmmpanther:PTHR15352,hmmpanther:PTHR15352:SF2	JAW1-related protein isoform c			A:0	ENSP00000412130		21-Feb	8.27E-06							7.30E-05	rs368754767,COSM3397377	21-Feb	.		ENST00000423302	Transcript			platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		ENSG00000072952	g.chr11:10673684G>A	7237			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=MRVI1_HUMAN&rb=1&re=121&var=A29V	NA	getma.org/?cm=var&var=hg19,11,10673684,G,A&fts=all	A29V	--	--	1																																		MRVI1_uc001miw.2_Missense_Mutation_p.A29V|MRVI1_uc010rcb.1_Missense_Mutation_p.A29V|MRVI1_uc009ygb.1_5'UTR|MRVI1_uc001mix.2_5'UTR|MRVI1_uc001miz.2_Intron|MRVI1_uc009ygc.1_Intron|MRVI1_uc010rcd.1_Missense_Mutation_p.A38V|MRVI1_uc009ygd.1_Intron	0,1	1		benign(0.015)	p.A38V	NM_001100167	NP_001093637		deleterious_low_confidence(0)	0,1	MRVI1_HUMAN	MRVI1	HGNC	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	H0YI08_HUMAN,E9PRG4_HUMAN		2	499	-			UPI0001F78343	29					SNV	MRVI1,missense_variant,p.Ala38Val,ENST00000423302,NM_130385.3,NM_001206880.1;MRVI1,missense_variant,p.Ala29Val,ENST00000421747,NM_001098579.2;MRVI1,missense_variant,p.Ala29Val,ENST00000436272,;MRVI1,missense_variant,p.Ala29Val,ENST00000531107,;MRVI1,missense_variant,p.Ala38Val,ENST00000541483,;MRVI1,5_prime_UTR_variant,,ENST00000545852,;MRVI1,5_prime_UTR_variant,,ENST00000552103,;MRVI1,5_prime_UTR_variant,,ENST00000424001,;MRVI1,5_prime_UTR_variant,,ENST00000558540,NM_001100167.2;MRVI1,5_prime_UTR_variant,,ENST00000534266,;MRVI1,5_prime_UTR_variant,,ENST00000529547,;MRVI1,intron_variant,,ENST00000547195,NM_001100163.2,NM_001206881.1;MRVI1,intron_variant,,ENST00000527509,;MRVI1,non_coding_transcript_exon_variant,,ENST00000532037,;MRVI1,non_coding_transcript_exon_variant,,ENST00000531786,;MRVI1,5_prime_UTR_variant,,ENST00000526414,;MRVI1,3_prime_UTR_variant,,ENST00000531308,;MRVI1,intron_variant,,ENST00000529448,;MRVI1,intron_variant,,ENST00000529068,;	uc010rcc.1	c.113C>T	263/6126	2	2			c.113C>T						11	SNP	c.(112-114)GCG>GTG	41	41			ovary(2)|central_nervous_system(1)	3	Broad	JAW1-related protein isoform c			10673684		0.647	ENSG00000072952	9672	g.chr11:10673684G>A	platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum								13.273284	KEEP	5	4	-1	6	5	5	4	-1	13.640653	6	5	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	A			MRVI1_uc001miw.2_Missense_Mutation_p.A29V|MRVI1_uc010rcb.1_Missense_Mutation_p.A29V|MRVI1_uc009ygb.1_5'UTR|MRVI1_uc001mix.2_5'UTR|MRVI1_uc001miz.2_Intron|MRVI1_uc009ygc.1_Intron|MRVI1_uc010rcd.1_Missense_Mutation_p.A38V|MRVI1_uc009ygd.1_Intron	180	GBM-26-1442-TP	p.A38V	G	CGGAACCTCCGCTGCGTCAGC	NM_001100167	NP_001093637	10673684	Q9Y6F6	MRVI1_HUMAN	0		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	2	499	-	A	A			Missense_Mutation	29						
MRVI1	0	broad.mit.edu	GRCh37	11	10647541	10647541	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-2615-01	TCGA-32-2615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000423302.2:c.1340G>C	p.Arg447Pro	p.R447P	ENST00000423302	NM_130385.3	447	cGg/cCg	0			1			G	R/P	uc010rcc.1	protein_coding	YES	CCDS55746.1			1340/2739									ovary(2)|central_nervous_system(1)	3	c.(1339-1341)CGG>CCG			Pfam_domain:PF05781,hmmpanther:PTHR15352,hmmpanther:PTHR15352:SF2	JAW1-related protein isoform c				ENSP00000412130		21-Sep									COSM3397376,COSM3397375	21-Sep	.		ENST00000423302	Transcript			platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		ENSG00000072952	g.chr11:10647541C>G	7237			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=MRVI1_HUMAN&rb=293&re=885&var=R420P	NA	getma.org/?cm=var&var=hg19,11,10647541,C,G&fts=all	R420P	--	--	1																																		MRVI1_uc001miw.2_Missense_Mutation_p.R438P|MRVI1_uc010rcb.1_Missense_Mutation_p.R439P|MRVI1_uc009ygb.1_Missense_Mutation_p.R132P|MRVI1_uc001mix.2_Missense_Mutation_p.R132P|MRVI1_uc001miz.2_Missense_Mutation_p.R356P|MRVI1_uc009ygc.1_Missense_Mutation_p.R356P|MRVI1_uc010rcd.1_Intron|MRVI1_uc009ygd.1_Missense_Mutation_p.R132P|MRVI1_uc010rce.1_Intron	1,1	1		probably_damaging(0.995)	p.R447P	NM_001100167	NP_001093637		deleterious(0.01)	1,1	MRVI1_HUMAN	MRVI1	HGNC	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	H0YI08_HUMAN,E9PRG4_HUMAN		9	1726	-			UPI0001F78343	420					SNV	MRVI1,missense_variant,p.Arg356Pro,ENST00000547195,NM_001100163.2,NM_001206881.1;MRVI1,missense_variant,p.Arg447Pro,ENST00000423302,NM_130385.3,NM_001206880.1;MRVI1,missense_variant,p.Arg356Pro,ENST00000552103,;MRVI1,missense_variant,p.Arg132Pro,ENST00000545852,;MRVI1,missense_variant,p.Arg438Pro,ENST00000421747,NM_001098579.2;MRVI1,missense_variant,p.Arg420Pro,ENST00000436272,;MRVI1,missense_variant,p.Arg132Pro,ENST00000424001,;MRVI1,missense_variant,p.Arg132Pro,ENST00000558540,NM_001100167.2;MRVI1,missense_variant,p.Arg439Pro,ENST00000531107,;MRVI1,missense_variant,p.Arg132Pro,ENST00000534266,;MRVI1,missense_variant,p.Arg356Pro,ENST00000527509,;MRVI1,intron_variant,,ENST00000541483,;MRVI1,downstream_gene_variant,,ENST00000532037,;MRVI1,3_prime_UTR_variant,,ENST00000529448,;MRVI1,intron_variant,,ENST00000526414,;MRVI1,intron_variant,,ENST00000533631,;	uc010rcc.1	c.1340G>C	1490/6126	4	4			c.1340G>C						11	SNP	c.(1339-1341)CGG>CCG	24	24			ovary(2)|central_nervous_system(1)	3	Broad	JAW1-related protein isoform c			10647541		0.597	ENSG00000072952	9672	g.chr11:10647541C>G	platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum								4.941948	KEEP	0	4	-1	7	4	0	4	-1	6.430651	7	4	0.153846	1	0	0	0	0	1	0	0	0	--	--		0	G			MRVI1_uc001miw.2_Missense_Mutation_p.R438P|MRVI1_uc010rcb.1_Missense_Mutation_p.R439P|MRVI1_uc009ygb.1_Missense_Mutation_p.R132P|MRVI1_uc001mix.2_Missense_Mutation_p.R132P|MRVI1_uc001miz.2_Missense_Mutation_p.R356P|MRVI1_uc009ygc.1_Missense_Mutation_p.R356P|MRVI1_uc010rcd.1_Intron|MRVI1_uc009ygd.1_Missense_Mutation_p.R132P|MRVI1_uc010rce.1_Intron	239	GBM-32-2615-TP	p.R447P	C	TTTCTGCATCCGCACGGGCTG	NM_001100167	NP_001093637	10647541	Q9Y6F6	MRVI1_HUMAN	0		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	9	1726	-	G	G			Missense_Mutation	420						
MS4A1	0	broad.mit.edu	GRCh37	11	60231772	60231772	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-3650-01	TCGA-12-3650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345732.4:c.291C>T	p.Ser97=	p.S97=	ENST00000345732	NM_021950.3	97	tcC/tcT	0			1			T	S	uc001npp.2	protein_coding		CCDS31570.1			291/894									ovary(3)|lung(2)	5	c.(289-291)TCC>TCT			Pfam_domain:PF04103,hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF6,Transmembrane_helices:TMhelix	membrane-spanning 4-domains, subfamily A, member	Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)			ENSP00000314620		7-Apr	6.59E-05		8.75E-05			6.04E-05		0.000185	rs201962059,COSM3397948	7-Apr	.		ENST00000345732	Transcript	1		B cell activation|immune response	integral to plasma membrane		ENSG00000156738	g.chr11:60231772C>T	7315			LOW								--	--	1																																		MS4A1_uc009ymy.1_3'UTR|MS4A1_uc001npq.2_Silent_p.S97S|MS4A1_uc009yna.2_Silent_p.S97S|MS4A1_uc009ymz.2_Silent_p.S97S|MS4A1_uc010rlc.1_Intron	0,1				p.S97S	NM_152866	NP_690605			0,1	CD20_HUMAN	MS4A1	HGNC	P11836	CD20_HUMAN					5	707	+			UPI000012733B	97			Helical; (Potential).		SNV	MS4A1,synonymous_variant,p.=,ENST00000534668,NM_152866.2;MS4A1,synonymous_variant,p.=,ENST00000389939,;MS4A1,synonymous_variant,p.=,ENST00000345732,NM_021950.3;MS4A1,synonymous_variant,p.=,ENST00000532073,;MS4A1,synonymous_variant,p.=,ENST00000533306,;MS4A1,intron_variant,,ENST00000528313,;MS4A1,downstream_gene_variant,,ENST00000532491,;MS4A1,downstream_gene_variant,,ENST00000524807,;MS4A1,non_coding_transcript_exon_variant,,ENST00000534503,;MS4A1,downstream_gene_variant,,ENST00000527101,;MS4A1,upstream_gene_variant,,ENST00000532418,;MS4A1,upstream_gene_variant,,ENST00000530482,;	uc001npp.2	c.291C>T	444/3331	2	2			c.291C>T						11	SNP	c.(289-291)TCC>TCT	22	22			ovary(3)|lung(2)	5	Broad	membrane-spanning 4-domains, subfamily A, member		Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	60231772		0.438	ENSG00000156738	9673	g.chr11:60231772C>T	B cell activation|immune response	integral to plasma membrane								52.763044	KEEP	10	10	-1	16	17	10	10	-1	53.450801	16	17	0.369565	1	0	0	0	0	0	0	1	0	--	--		0	T			MS4A1_uc009ymy.1_3'UTR|MS4A1_uc001npq.2_Silent_p.S97S|MS4A1_uc009yna.2_Silent_p.S97S|MS4A1_uc009ymz.2_Silent_p.S97S|MS4A1_uc010rlc.1_Intron	126	GBM-12-3650-TP	p.S97S	C	ATATTATTTCCGGATCACTCC	NM_152866	NP_690605	60231772	P11836	CD20_HUMAN	0			5	707	+	T	T			Silent	97			Helical; (Potential).			
MS4A12	0	broad.mit.edu	GRCh37	11	60271232	60271232	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6191-01	TCGA-76-6191-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000016913.4:c.530T>C	p.Ile177Thr	p.I177T	ENST00000016913	NM_017716.2	177	aTt/aCt	0			1			C	I/T	uc001npr.2	protein_coding	YES	CCDS7988.1			530/804										0	c.(529-531)ATT>ACT			Transmembrane_helices:TMhelix,hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF34,Pfam_domain:PF04103	membrane-spanning 4-domains, subfamily A, member				ENSP00000016913		7-May										7-May	.		ENST00000016913	Transcript				integral to membrane	receptor activity	ENSG00000071203	g.chr11:60271232T>C	13370			MODERATE		1.6	low	getma.org/?cm=msa&ty=f&p=M4A12_HUMAN&rb=90&re=225&var=I177T	NA	getma.org/?cm=var&var=hg19,11,60271232,T,C&fts=all	I177T	--	--	1																																				1		possibly_damaging(0.794)	p.I177T	NM_017716	NP_060186		tolerated(0.08)		M4A12_HUMAN	MS4A12	HGNC	Q9NXJ0	M4A12_HUMAN			E9PNI3_HUMAN		5	587	+			UPI000006D9F8	177			Helical; (Potential).		SNV	MS4A12,missense_variant,p.Ile177Thr,ENST00000016913,NM_017716.2;MS4A12,missense_variant,p.Ile131Thr,ENST00000537076,NM_001164470.1;MS4A12,missense_variant,p.Ile131Thr,ENST00000526784,;MS4A12,downstream_gene_variant,,ENST00000530007,;	uc001npr.2	c.530T>C	587/1167	3	3			c.530T>C						11	SNP	c.(529-531)ATT>ACT	50	50				0	Broad	membrane-spanning 4-domains, subfamily A, member			60271232		0.458	ENSG00000071203	9675	g.chr11:60271232T>C		integral to membrane	receptor activity							91.265732	KEEP	17	14	-1	19	29	17	14	-1	92.231499	19	29	0.378378	1	0	0	0	0	1	0	0	0	--	--		0	C				274	GBM-76-6191-TP	p.I177T	T	ATTGGAGTGATTCTGCTGCTG	NM_017716	NP_060186	60271232	Q9NXJ0	M4A12_HUMAN	0			5	587	+	C	C			Missense_Mutation	177			Helical; (Potential).			
MS4A12	0	broad.mit.edu	GRCh37	11	60264794	60264794	+	start_lost	Translation_Start_Site	SNP	G	G	C			TCGA-76-6282-01	TCGA-76-6282-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000016913.4:c.3G>C	p.Met1?	p.M1?	ENST00000016913	NM_017716.2	1	atG/atC	0			1			C	M/I	uc001npr.2	protein_coding	YES	CCDS7988.1			3/804										0	c.(1-3)ATG>ATC				membrane-spanning 4-domains, subfamily A, member				ENSP00000016913		7-Feb									COSM3397949	7-Feb	.		ENST00000016913	Transcript				integral to membrane	receptor activity	ENSG00000071203	g.chr11:60264794G>C	13370			HIGH		0	NA	http://getma.org/?cm=msa&ty=f&p=M4A12_HUMAN&rb=1&re=89&var=M1I	NA	getma.org/?cm=var&var=hg19,11,60264794,G,C&fts=all	M1I	--	--	1																																		MS4A12_uc009ynb.2_Missense_Mutation_p.M1I	1	1		benign(0.023)	p.M1I	NM_017716	NP_060186		tolerated(0.09)	1	M4A12_HUMAN	MS4A12	HGNC	Q9NXJ0	M4A12_HUMAN			E9PNI3_HUMAN		2	60	+			UPI000006D9F8	1			Cytoplasmic (Potential).		SNV	MS4A12,start_lost,p.Met1?,ENST00000016913,NM_017716.2;MS4A12,start_lost,p.Met1?,ENST00000537076,NM_001164470.1;MS4A12,start_lost,p.Met1?,ENST00000530007,;MS4A12,start_lost,p.Met1?,ENST00000526784,;MS4A12,non_coding_transcript_exon_variant,,ENST00000525951,;	uc001npr.2	c.3G>C	60/1167	3	3			c.3G>C						11	SNP	c.(1-3)ATG>ATC	8	8				0	Broad	membrane-spanning 4-domains, subfamily A, member			60264794		0.383	ENSG00000071203	9675	g.chr11:60264794G>C		integral to membrane	receptor activity							97.500149	KEEP	18	16	-1	45	41	18	16	-1	102.716193	45	41	0.275862	1	0	0	0	0	1	0	0	0	--	--		0	C			MS4A12_uc009ynb.2_Missense_Mutation_p.M1I	278	GBM-76-6282-TP	p.M1I	G	AGGACATAATGATGTCATCCA	NM_017716	NP_060186	60264794	Q9NXJ0	M4A12_HUMAN	0			2	60	+	C	C			Missense_Mutation	1			Cytoplasmic (Potential).			
MS4A14	84689	broad.mit.edu	GRCh37	11	60164186	60164186	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0128-01	TCGA-06-0128-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000531783.1:c.135G>T	p.Leu45Phe	p.L45F	ENST00000531783	NM_001261828.1	45	ttG/ttT	0			1			T	L/F	uc001npj.2	protein_coding		CCDS31569.1			135/2040									breast(1)	1	c.(133-135)TTG>TTT			Pfam_domain:PF04103,hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF10,Transmembrane_helices:TMhelix	membrane-spanning 4-domains, subfamily A, member				ENSP00000300187		5-Jan									COSM2149474	5-Jan	.		ENST00000300187	Transcript				integral to membrane	receptor activity	ENSG00000166928	g.chr11:60164186G>T	30706			MODERATE		2.345	medium	getma.org/?cm=msa&ty=f&p=M4A14_HUMAN&rb=44&re=221&var=L45F	NA	getma.org/?cm=var&var=hg19,11,60164186,G,T&fts=all	L45F	--	--	1																																		MS4A14_uc001npi.2_Intron|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Missense_Mutation_p.L45F|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR	1			probably_damaging(0.999)	p.L45F	NM_032597	NP_115986		deleterious(0.01)	1	M4A14_HUMAN	MS4A14	HGNC	Q96JA4	M4A14_HUMAN			F6X344_HUMAN		1	700	+			UPI000013E636	45					SNV	MS4A14,missense_variant,p.Leu45Phe,ENST00000300187,NM_032597.4;MS4A14,missense_variant,p.Leu45Phe,ENST00000531783,NM_001261828.1;MS4A14,missense_variant,p.Leu45Phe,ENST00000395005,NM_001079692.2;MS4A14,missense_variant,p.Leu45Phe,ENST00000526375,;MS4A14,missense_variant,p.Leu4Phe,ENST00000534688,;MS4A14,5_prime_UTR_variant,,ENST00000395001,;MS4A14,intron_variant,,ENST00000531787,;MS4A7,downstream_gene_variant,,ENST00000358246,NM_206938.1,NM_206940.1;MS4A7,downstream_gene_variant,,ENST00000300184,NM_206939.1,NM_021201.4;MS4A7,downstream_gene_variant,,ENST00000534016,;MS4A7,downstream_gene_variant,,ENST00000530234,;MS4A7,downstream_gene_variant,,ENST00000530614,;MS4A7,downstream_gene_variant,,ENST00000530027,;MS4A14,missense_variant,p.Leu45Phe,ENST00000530662,;MS4A14,missense_variant,p.Leu45Phe,ENST00000527841,;MS4A14,missense_variant,p.Leu45Phe,ENST00000525397,;MS4A14,missense_variant,p.Leu45Phe,ENST00000531949,;MS4A7,downstream_gene_variant,,ENST00000528587,;MS4A7,downstream_gene_variant,,ENST00000533849,;MS4A7,downstream_gene_variant,,ENST00000534310,;MS4A6E,downstream_gene_variant,,ENST00000532756,;	uc001npj.2	c.135G>T	412/2997	1	1			c.135G>T						11	SNP	c.(133-135)TTG>TTT	2	2			breast(1)	1	Broad	membrane-spanning 4-domains, subfamily A, member			60164186		0.423	ENSG00000166928	9677	g.chr11:60164186G>T		integral to membrane	receptor activity							66.864262	KEEP	14	10	0.583333333	13	19	14	10	0.583333333	67.3637	13	19	0.396226	1	0	0	0	0	1	0	0	0	--	--		0	T			MS4A14_uc001npi.2_Intron|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Missense_Mutation_p.L45F|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR	14	GBM-06-0128-TP	p.L45F	G	CAAGAGTCTTGGGGGTAAGTC	NM_032597	NP_115986	60164186	Q96JA4	M4A14_HUMAN	0			1	700	+	T	T			Missense_Mutation	45						
MS4A14	84689	broad.mit.edu	GRCh37	11	60183620	60183620	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2562-01	TCGA-06-2562-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000531783.1:c.1278C>T	p.His426=	p.H426=	ENST00000531783	NM_001261828.1	426	caC/caT	0			1			T	H	uc001npj.2	protein_coding		CCDS31569.1			1179/2040									breast(1)	1	c.(1177-1179)CAC>CAT			hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF10	membrane-spanning 4-domains, subfamily A, member				ENSP00000300187		5-May	1.65E-05				0.000174	1.70E-05			rs753050956,COSM2152774	5-May	.		ENST00000300187	Transcript				integral to membrane	receptor activity	ENSG00000166928	g.chr11:60183620C>T	30706			LOW								--	--	1																																		MS4A14_uc001npi.2_Silent_p.H281H|MS4A14_uc001npn.2_Silent_p.H131H|MS4A14_uc001npk.2_Silent_p.H376H|MS4A14_uc001npl.2_Silent_p.H131H|MS4A14_uc001npm.2_Silent_p.H131H	0,1				p.H393H	NM_032597	NP_115986			0,1	M4A14_HUMAN	MS4A14	HGNC	Q96JA4	M4A14_HUMAN			F6X344_HUMAN		5	1744	+			UPI000013E636	393					SNV	MS4A14,synonymous_variant,p.=,ENST00000300187,NM_032597.4;MS4A14,synonymous_variant,p.=,ENST00000531783,NM_001261828.1;MS4A14,synonymous_variant,p.=,ENST00000395005,NM_001079692.2;MS4A14,synonymous_variant,p.=,ENST00000531787,;MS4A14,3_prime_UTR_variant,,ENST00000395001,;MS4A14,3_prime_UTR_variant,,ENST00000530662,;MS4A14,3_prime_UTR_variant,,ENST00000527841,;MS4A14,3_prime_UTR_variant,,ENST00000525397,;	uc001npj.2	c.1179C>T	1456/2997	1	1			c.1179C>T						11	SNP	c.(1177-1179)CAC>CAT	12	12			breast(1)	1	Broad	membrane-spanning 4-domains, subfamily A, member			60183620		0.075	ENSG00000166928	9677	g.chr11:60183620C>T		integral to membrane	receptor activity							54.414791	KEEP	4	16	-1	9	18	4	16	-1	54.71892	9	18	0.413043	1	0	0	0	0	0	0	1	0	--	--		0	T			MS4A14_uc001npi.2_Silent_p.H281H|MS4A14_uc001npn.2_Silent_p.H131H|MS4A14_uc001npk.2_Silent_p.H376H|MS4A14_uc001npl.2_Silent_p.H131H|MS4A14_uc001npm.2_Silent_p.H131H	85	GBM-06-2562-TP	p.H393H	C	caccatcccacgccatgccac	NM_032597	NP_115986	60183620	Q96JA4	M4A14_HUMAN	0			5	1744	+	T	T			Silent	393						
MS4A14	0	broad.mit.edu	GRCh37	11	60183888	60183888	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-14-0813-01	TCGA-14-0813-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300187.6:c.1447T>A	p.Ser483Thr	p.S483T	ENST00000300187	NM_032597.4	483	Tca/Aca	0			1			A	S/T	uc001npj.2	protein_coding		CCDS31569.1			1447/2040									breast(1)	1	c.(1447-1449)TCA>ACA			hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF10,Low_complexity_(Seg):seg	membrane-spanning 4-domains, subfamily A, member				ENSP00000300187		5-May									COSM3397945	5-May	.		ENST00000300187	Transcript				integral to membrane	receptor activity	ENSG00000166928	g.chr11:60183888T>A	30706			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=M4A14_HUMAN&rb=422&re=621&var=S483T	NA	getma.org/?cm=var&var=hg19,11,60183888,T,A&fts=all	S483T	--	--	1																																		MS4A14_uc001npi.2_Missense_Mutation_p.S371T|MS4A14_uc001npn.2_Missense_Mutation_p.S221T|MS4A14_uc001npk.2_Missense_Mutation_p.S466T|MS4A14_uc001npl.2_Missense_Mutation_p.S221T|MS4A14_uc001npm.2_Missense_Mutation_p.S221T	1			benign(0.085)	p.S483T	NM_032597	NP_115986		tolerated(0.56)	1	M4A14_HUMAN	MS4A14	HGNC	Q96JA4	M4A14_HUMAN			F6X344_HUMAN		5	2012	+			UPI000013E636	483			Gln-rich.		SNV	MS4A14,missense_variant,p.Ser483Thr,ENST00000300187,NM_032597.4;MS4A14,missense_variant,p.Ser516Thr,ENST00000531783,NM_001261828.1;MS4A14,missense_variant,p.Ser466Thr,ENST00000395005,NM_001079692.2;MS4A14,missense_variant,p.Ser371Thr,ENST00000531787,;MS4A14,downstream_gene_variant,,ENST00000395001,;MS4A14,3_prime_UTR_variant,,ENST00000530662,;MS4A14,3_prime_UTR_variant,,ENST00000527841,;MS4A14,3_prime_UTR_variant,,ENST00000525397,;	uc001npj.2	c.1447T>A	1724/2997	2	2			c.1447T>A						11	SNP	c.(1447-1449)TCA>ACA	20	20			breast(1)	1	Broad	membrane-spanning 4-domains, subfamily A, member			60183888		0.398	ENSG00000166928	9677	g.chr11:60183888T>A		integral to membrane	receptor activity							-19.541349	KEEP	4	5	-1	63	100	4	5	-1	15.670286	63	100	0.04908	1	0	0	0	0	1	0	0	0	--	--		0	A			MS4A14_uc001npi.2_Missense_Mutation_p.S371T|MS4A14_uc001npn.2_Missense_Mutation_p.S221T|MS4A14_uc001npk.2_Missense_Mutation_p.S466T|MS4A14_uc001npl.2_Missense_Mutation_p.S221T|MS4A14_uc001npm.2_Missense_Mutation_p.S221T	138	GBM-14-0813-TP	p.S483T	T	AAGAAAATCCTCAAGACGGCA	NM_032597	NP_115986	60183888	Q96JA4	M4A14_HUMAN	0			5	2012	+	A	A			Missense_Mutation	483			Gln-rich.			
MS4A14	0	broad.mit.edu	GRCh37	11	60184370	60184370	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-19-5951-01	TCGA-19-5951-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300187.6:c.1929T>C	p.Asp643=	p.D643=	ENST00000300187	NM_032597.4	643	gaT/gaC	0			1			C	D	uc001npj.2	protein_coding		CCDS31569.1			1929/2040									breast(1)	1	c.(1927-1929)GAT>GAC				membrane-spanning 4-domains, subfamily A, member				ENSP00000300187		5-May									COSM3397947	5-May	.		ENST00000300187	Transcript				integral to membrane	receptor activity	ENSG00000166928	g.chr11:60184370T>C	30706			LOW								--	--	1																																		MS4A14_uc001npi.2_Silent_p.D531D|MS4A14_uc001npn.2_Silent_p.D381D|MS4A14_uc001npk.2_Silent_p.D626D|MS4A14_uc001npl.2_Silent_p.D381D|MS4A14_uc001npm.2_Silent_p.D381D	1				p.D643D	NM_032597	NP_115986			1	M4A14_HUMAN	MS4A14	HGNC	Q96JA4	M4A14_HUMAN			F6X344_HUMAN		5	2494	+			UPI000013E636	643			Gln-rich.		SNV	MS4A14,synonymous_variant,p.=,ENST00000300187,NM_032597.4;MS4A14,synonymous_variant,p.=,ENST00000531783,NM_001261828.1;MS4A14,synonymous_variant,p.=,ENST00000395005,NM_001079692.2;MS4A14,synonymous_variant,p.=,ENST00000531787,;MS4A14,downstream_gene_variant,,ENST00000395001,;MS4A14,3_prime_UTR_variant,,ENST00000530662,;MS4A14,3_prime_UTR_variant,,ENST00000527841,;MS4A14,3_prime_UTR_variant,,ENST00000525397,;	uc001npj.2	c.1929T>C	2206/2997	3	3			c.1929T>C						11	SNP	c.(1927-1929)GAT>GAC	59	59			breast(1)	1	Broad	membrane-spanning 4-domains, subfamily A, member			60184370		0.473	ENSG00000166928	9677	g.chr11:60184370T>C		integral to membrane	receptor activity							-6.228593	KEEP	1	2	-1	26	38	1	2	-1	7.773657	26	38	0.046875	1	0	0	0	0	0	0	1	0	--	--		0	C			MS4A14_uc001npi.2_Silent_p.D531D|MS4A14_uc001npn.2_Silent_p.D381D|MS4A14_uc001npk.2_Silent_p.D626D|MS4A14_uc001npl.2_Silent_p.D381D|MS4A14_uc001npm.2_Silent_p.D381D	171	GBM-19-5951-TP	p.D643D	T	TATGCCAAGATTCAGAATCCC	NM_032597	NP_115986	60184370	Q96JA4	M4A14_HUMAN	0			5	2494	+	C	C			Silent	643			Gln-rich.			
MS4A14	0	broad.mit.edu	GRCh37	11	60164081	60164081	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-28-5216-01	TCGA-28-5216-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300187.6:c.30A>T	p.Ala10=	p.A10=	ENST00000300187	NM_032597.4	10	gcA/gcT	0			1			T	A	uc001npj.2	protein_coding		CCDS31569.1			30/2040									breast(1)	1	c.(28-30)GCA>GCT			hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF10	membrane-spanning 4-domains, subfamily A, member				ENSP00000300187		5-Jan									COSM689436	5-Jan	.		ENST00000300187	Transcript				integral to membrane	receptor activity	ENSG00000166928	g.chr11:60164081A>T	30706			LOW								--	--	1																																		MS4A14_uc001npi.2_Intron|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Silent_p.A10A|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR	1				p.A10A	NM_032597	NP_115986			1	M4A14_HUMAN	MS4A14	HGNC	Q96JA4	M4A14_HUMAN			F6X344_HUMAN		1	595	+			UPI000013E636	10					SNV	MS4A14,synonymous_variant,p.=,ENST00000300187,NM_032597.4;MS4A14,synonymous_variant,p.=,ENST00000531783,NM_001261828.1;MS4A14,synonymous_variant,p.=,ENST00000395005,NM_001079692.2;MS4A14,synonymous_variant,p.=,ENST00000526375,;MS4A14,5_prime_UTR_variant,,ENST00000395001,;MS4A14,intron_variant,,ENST00000531787,;MS4A7,downstream_gene_variant,,ENST00000358246,NM_206938.1,NM_206940.1;MS4A7,downstream_gene_variant,,ENST00000300184,NM_206939.1,NM_021201.4;MS4A7,downstream_gene_variant,,ENST00000534016,;MS4A7,downstream_gene_variant,,ENST00000530234,;MS4A7,downstream_gene_variant,,ENST00000530614,;MS4A7,downstream_gene_variant,,ENST00000530027,;MS4A14,upstream_gene_variant,,ENST00000534688,;MS4A14,synonymous_variant,p.=,ENST00000530662,;MS4A14,synonymous_variant,p.=,ENST00000527841,;MS4A14,synonymous_variant,p.=,ENST00000525397,;MS4A14,synonymous_variant,p.=,ENST00000531949,;MS4A7,downstream_gene_variant,,ENST00000528587,;MS4A7,downstream_gene_variant,,ENST00000533849,;MS4A7,downstream_gene_variant,,ENST00000534310,;MS4A6E,downstream_gene_variant,,ENST00000532756,;	uc001npj.2	c.30A>T	307/2997	1	1			c.30A>T						11	SNP	c.(28-30)GCA>GCT	14	14			breast(1)	1	Broad	membrane-spanning 4-domains, subfamily A, member			60164081		0.458	ENSG00000166928	9677	g.chr11:60164081A>T		integral to membrane	receptor activity							126.60799	KEEP	23	20	-1	14	23	23	20	-1	126.857078	14	23	0.56338	1	0	0	0	0	0	0	1	0	--	--		0	T			MS4A14_uc001npi.2_Intron|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Silent_p.A10A|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR	223	GBM-28-5216-TP	p.A10A	A	ACAGAAGGGCAACTCACGTCA	NM_032597	NP_115986	60164081	Q96JA4	M4A14_HUMAN	0			1	595	+	T	T			Silent	10						
MS4A14	0	broad.mit.edu	GRCh37	11	60184319	60184319	+	synonymous_variant	Silent	SNP	C	C	T	rs147367847	byFrequency	TCGA-41-3915-01	TCGA-41-3915-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300187.6:c.1878C>T	p.Ala626=	p.A626=	ENST00000300187	NM_032597.4	626	gcC/gcT	0	T:0.0009	T:0	1	T:0.0029		T	A	uc001npj.2	protein_coding		CCDS31569.1			1878/2040									breast(1)	1	c.(1876-1878)GCC>GCT				membrane-spanning 4-domains, subfamily A, member		T:0	T:0.0019	ENSP00000300187	T:0.001	5-May	0.00167	0.000482	0.0021		0.00182	0.00242	0.0011		rs147367847,COSM3747887	5-May	common_variant		ENST00000300187	Transcript		T:0.0006		integral to membrane	receptor activity	ENSG00000166928	g.chr11:60184319C>T	30706			LOW								--	--	1																																		MS4A14_uc001npi.2_Silent_p.A514A|MS4A14_uc001npn.2_Silent_p.A364A|MS4A14_uc001npk.2_Silent_p.A609A|MS4A14_uc001npl.2_Silent_p.A364A|MS4A14_uc001npm.2_Silent_p.A364A	0,1				p.A626A	NM_032597	NP_115986	T:0		0,1	M4A14_HUMAN	MS4A14	HGNC	Q96JA4	M4A14_HUMAN			F6X344_HUMAN		5	2443	+			UPI000013E636	626			Gln-rich.		SNV	MS4A14,synonymous_variant,p.=,ENST00000300187,NM_032597.4;MS4A14,synonymous_variant,p.=,ENST00000531783,NM_001261828.1;MS4A14,synonymous_variant,p.=,ENST00000395005,NM_001079692.2;MS4A14,synonymous_variant,p.=,ENST00000531787,;MS4A14,downstream_gene_variant,,ENST00000395001,;MS4A14,3_prime_UTR_variant,,ENST00000530662,;MS4A14,3_prime_UTR_variant,,ENST00000527841,;MS4A14,3_prime_UTR_variant,,ENST00000525397,;	uc001npj.2	c.1878C>T	2155/2997	1	1			c.1878C>T						11	SNP	c.(1876-1878)GCC>GCT	6	6			breast(1)	1	Broad	membrane-spanning 4-domains, subfamily A, member			60184319		0.458	ENSG00000166928	9677	g.chr11:60184319C>T		integral to membrane	receptor activity							104.729632	KEEP	12	19	-1	12	19	12	19	-1	104.789698	12	19	0.534483	1	0	0	0	0	0	0	1	0	--	--		0	T			MS4A14_uc001npi.2_Silent_p.A514A|MS4A14_uc001npn.2_Silent_p.A364A|MS4A14_uc001npk.2_Silent_p.A609A|MS4A14_uc001npl.2_Silent_p.A364A|MS4A14_uc001npm.2_Silent_p.A364A	256	GBM-41-3915-TP	p.A626A	C	ATGTTCAAGCCGAAGGACAGC	NM_032597	NP_115986	60184319	Q96JA4	M4A14_HUMAN	0			5	2443	+	T	T			Silent	626			Gln-rich.			
MS4A14	0	broad.mit.edu	GRCh37	11	60183896	60183896	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300187.6:c.1455G>A	p.Arg485=	p.R485=	ENST00000300187	NM_032597.4	485	cgG/cgA	0			1			A	R	uc001npj.2	protein_coding		CCDS31569.1			1455/2040									breast(1)	1	c.(1453-1455)CGG>CGA			hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF10,Low_complexity_(Seg):seg	membrane-spanning 4-domains, subfamily A, member				ENSP00000300187		5-May									COSM3397946	5-May	.		ENST00000300187	Transcript				integral to membrane	receptor activity	ENSG00000166928	g.chr11:60183896G>A	30706			LOW								--	--	1																																		MS4A14_uc001npi.2_Silent_p.R373R|MS4A14_uc001npn.2_Silent_p.R223R|MS4A14_uc001npk.2_Silent_p.R468R|MS4A14_uc001npl.2_Silent_p.R223R|MS4A14_uc001npm.2_Silent_p.R223R	1				p.R485R	NM_032597	NP_115986			1	M4A14_HUMAN	MS4A14	HGNC	Q96JA4	M4A14_HUMAN			F6X344_HUMAN		5	2020	+			UPI000013E636	485			Gln-rich.		SNV	MS4A14,synonymous_variant,p.=,ENST00000300187,NM_032597.4;MS4A14,synonymous_variant,p.=,ENST00000531783,NM_001261828.1;MS4A14,synonymous_variant,p.=,ENST00000395005,NM_001079692.2;MS4A14,synonymous_variant,p.=,ENST00000531787,;MS4A14,downstream_gene_variant,,ENST00000395001,;MS4A14,3_prime_UTR_variant,,ENST00000530662,;MS4A14,3_prime_UTR_variant,,ENST00000527841,;MS4A14,3_prime_UTR_variant,,ENST00000525397,;	uc001npj.2	c.1455G>A	1732/2997	1	1			c.1455G>A						11	SNP	c.(1453-1455)CGG>CGA	62	62			breast(1)	1	Broad	membrane-spanning 4-domains, subfamily A, member			60183896		0.393	ENSG00000166928	9677	g.chr11:60183896G>A		integral to membrane	receptor activity							-21.549572	KEEP	3	1	-1	61	67	3	1	-1	7.189789	61	67	0.033058	1	0	0	0	0	0	0	1	0	--	--		0	A			MS4A14_uc001npi.2_Silent_p.R373R|MS4A14_uc001npn.2_Silent_p.R223R|MS4A14_uc001npk.2_Silent_p.R468R|MS4A14_uc001npl.2_Silent_p.R223R|MS4A14_uc001npm.2_Silent_p.R223R	270	GBM-76-4931-TP	p.R485R	G	CCTCAAGACGGCATTCCTTAA	NM_032597	NP_115986	60183896	Q96JA4	M4A14_HUMAN	0			5	2020	+	A	A			Silent	485			Gln-rich.			
MS4A14	0	broad.mit.edu	GRCh37	11	60183031	60183031	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6191-01	TCGA-76-6191-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300187.6:c.590C>T	p.Ala197Val	p.A197V	ENST00000300187	NM_032597.4	197	gCa/gTa	0			1			T	A/V	uc001npj.2	protein_coding		CCDS31569.1			590/2040									breast(1)	1	c.(589-591)GCA>GTA			Pfam_domain:PF04103,hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF10	membrane-spanning 4-domains, subfamily A, member				ENSP00000300187		5-May										5-May	.		ENST00000300187	Transcript				integral to membrane	receptor activity	ENSG00000166928	g.chr11:60183031C>T	30706			MODERATE		0.41	neutral	getma.org/?cm=msa&ty=f&p=M4A14_HUMAN&rb=44&re=221&var=A197V	NA	getma.org/?cm=var&var=hg19,11,60183031,C,T&fts=all	A197V	--	--	1																																		MS4A14_uc001npi.2_Missense_Mutation_p.A85V|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Missense_Mutation_p.A180V|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR				benign(0.042)	p.A197V	NM_032597	NP_115986		tolerated(1)		M4A14_HUMAN	MS4A14	HGNC	Q96JA4	M4A14_HUMAN			F6X344_HUMAN		5	1155	+			UPI000013E636	197					SNV	MS4A14,missense_variant,p.Ala197Val,ENST00000300187,NM_032597.4;MS4A14,missense_variant,p.Ala230Val,ENST00000531783,NM_001261828.1;MS4A14,missense_variant,p.Ala180Val,ENST00000395005,NM_001079692.2;MS4A14,missense_variant,p.Ala85Val,ENST00000531787,;MS4A14,3_prime_UTR_variant,,ENST00000395001,;MS4A14,3_prime_UTR_variant,,ENST00000530662,;MS4A14,3_prime_UTR_variant,,ENST00000527841,;MS4A14,3_prime_UTR_variant,,ENST00000525397,;	uc001npj.2	c.590C>T	867/2997	2	2			c.590C>T						11	SNP	c.(589-591)GCA>GTA	48	48			breast(1)	1	Broad	membrane-spanning 4-domains, subfamily A, member			60183031		0.378	ENSG00000166928	9677	g.chr11:60183031C>T		integral to membrane	receptor activity							105.033739	KEEP	28	14	-1	32	30	28	14	-1	105.888651	32	30	0.397849	1	0	0	0	0	1	0	0	0	--	--		0	T			MS4A14_uc001npi.2_Missense_Mutation_p.A85V|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Missense_Mutation_p.A180V|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR	274	GBM-76-6191-TP	p.A197V	C	ACAACAAATGCACAATCTGTT	NM_032597	NP_115986	60183031	Q96JA4	M4A14_HUMAN	0			5	1155	+	T	T			Missense_Mutation	197						
MS4A15	0	broad.mit.edu	GRCh37	11	60531221	60531221	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000405633.3:c.15C>T	p.Pro5=	p.P5=	ENST00000405633	NM_001098835.1	5	ccC/ccT	0	T:0		1			T	P	uc009ynf.1	protein_coding	YES	CCDS44617.1			15/723									lung(1)	1	c.(13-15)CCC>CCT			hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF51	membrane-spanning 4-domains, subfamily A, member			T:0.0001	ENSP00000386022		7-Feb	8.27E-06					1.50E-05			rs372949576,COSM3397951	7-Feb	.		ENST00000405633	Transcript				integral to membrane	receptor activity	ENSG00000166961	g.chr11:60531221C>T	28573			LOW								--	--	1																																		MS4A15_uc001npx.2_Intron|MS4A15_uc001npy.2_RNA|MS4A15_uc009yng.1_Silent_p.P5P	0,1	1			p.P5P	NM_001098835	NP_001092305			0,1	M4A15_HUMAN	MS4A15	HGNC	Q8N5U1	M4A15_HUMAN					2	235	+			UPI00001FA81E	5					SNV	MS4A15,synonymous_variant,p.=,ENST00000405633,NM_001098835.1;MS4A15,synonymous_variant,p.=,ENST00000528170,NM_001278242.1;MS4A15,intron_variant,,ENST00000337911,NM_152717.2;MS4A15,synonymous_variant,p.=,ENST00000429322,;	uc009ynf.1	c.15C>T	94/1818	2	2			c.15C>T						11	SNP	c.(13-15)CCC>CCT	33	33			lung(1)	1	Broad	membrane-spanning 4-domains, subfamily A, member			60531221		0.527	ENSG00000166961	9678	g.chr11:60531221C>T		integral to membrane	receptor activity							416.844197	KEEP	71	66	-1	91	73	71	66	-1	417.331874	91	73	0.454874	1	0	0	0	0	0	0	1	0	--	--		0	T			MS4A15_uc001npx.2_Intron|MS4A15_uc001npy.2_RNA|MS4A15_uc009yng.1_Silent_p.P5P	218	GBM-28-5209-TP	p.P5P	C	CTGCAGCTCCCGCCAGCAATG	NM_001098835	NP_001092305	60531221	Q8N5U1	M4A15_HUMAN	0			2	235	+	T	T			Silent	5						
MS4A3	0	broad.mit.edu	GRCh37	11	59828736	59828736	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-12-0688-01	TCGA-12-0688-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278865.3:c.103C>A	p.Gln35Lys	p.Q35K	ENST00000278865	NM_006138.4	35	Cag/Aag	0			1			A	Q/K	uc001nom.2	protein_coding	YES	CCDS31567.1			103/645									ovary(2)|skin(1)	3	c.(103-105)CAG>AAG			hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF46	membrane-spanning 4-domains, subfamily A, member				ENSP00000278865		7-Feb									COSM2153930	7-Feb	.		ENST00000278865	Transcript				endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	ENSG00000149516	g.chr11:59828736C>A	7317			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=MS4A3_HUMAN&rb=1&re=49&var=Q35K	NA	getma.org/?cm=var&var=hg19,11,59828736,C,A&fts=all	Q35K	--	--	1																																		MS4A3_uc001non.2_Missense_Mutation_p.Q35K|MS4A3_uc001noo.2_Intron	1	1		benign(0.015)	p.Q35K	NM_006138	NP_006129		tolerated(0.28)	1	MS4A3_HUMAN	MS4A3	HGNC	Q96HJ5	MS4A3_HUMAN					2	231	+		all_epithelial(135;0.245)	UPI000006E45E	35	Q -> H (in Ref. 1; AAA62319).		Cytoplasmic (Potential).		SNV	MS4A3,missense_variant,p.Gln35Lys,ENST00000278865,NM_006138.4;MS4A3,missense_variant,p.Gln35Lys,ENST00000358152,NM_001031809.1;MS4A3,missense_variant,p.Gln35Lys,ENST00000534744,;MS4A3,intron_variant,,ENST00000395032,NM_001031666.1;MS4A3,non_coding_transcript_exon_variant,,ENST00000526199,;MS4A3,missense_variant,p.Gln35Lys,ENST00000525686,;MS4A3,non_coding_transcript_exon_variant,,ENST00000528298,;	uc001nom.2	c.103C>A	176/1613	1	1			c.103C>A						11	SNP	c.(103-105)CAG>AAG	63	63			ovary(2)|skin(1)	3	Broad	membrane-spanning 4-domains, subfamily A, member			59828736		0.473	ENSG00000149516	9680	g.chr11:59828736C>A		endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity							153.868903	KEEP	38	16	0.296296296	38	49	38	16	0.296296296	155.00739	38	49	0.4	1	0	0	0	0	1	0	0	0	--	--		0	A			MS4A3_uc001non.2_Missense_Mutation_p.Q35K|MS4A3_uc001noo.2_Intron	121	GBM-12-0688-TP	p.Q35K	C	TTCTGTCTACCAGCCCATAGA	NM_006138	NP_006129	59828736	Q96HJ5	MS4A3_HUMAN	0			2	231	+	A	A		all_epithelial(135;0.245)	Missense_Mutation	35	Q -> H (in Ref. 1; AAA62319).		Cytoplasmic (Potential).			
MS4A6A	0	broad.mit.edu	GRCh37	11	59947358	59947358	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-1832-01	TCGA-27-1832-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000530839.1:c.228C>T	p.Thr76=	p.T76=	ENST00000530839	NM_152852.2	76	acC/acT	0			1			A	T	uc001nor.2	protein_coding		CCDS7981.1			228/747										0	c.(226-228)ACC>ACT			Pfam_domain:PF04103,hmmpanther:PTHR23320:SF53,hmmpanther:PTHR23320	membrane-spanning 4-domains, subfamily A, member				ENSP00000436979		8-Apr									COSM3397935,COSM3397936,COSM3397937	8-Apr	.		ENST00000530839	Transcript				integral to membrane	receptor activity	ENSG00000110077	g.chr11:59947358G>A	13375			LOW								--	--	1																																		MS4A6A_uc001noq.2_Silent_p.T76T|MS4A6A_uc001nos.3_Silent_p.T104T|MS4A6A_uc009ymv.2_Silent_p.T76T|MS4A6A_uc001not.2_Silent_p.T76T|MS4A6A_uc010rla.1_Silent_p.T104T|MS4A6A_uc010rlb.1_Intron	1,1,1				p.T76T	NM_152852	NP_690591			1,1,1	M4A6A_HUMAN	MS4A6A	HGNC	Q9H2W1	M4A6A_HUMAN			E9PNG6_HUMAN		3	466	-			UPI0000047616	76			Extracellular (Potential).		SNV	MS4A6A,synonymous_variant,p.=,ENST00000528851,;MS4A6A,synonymous_variant,p.=,ENST00000323961,NM_152851.2;MS4A6A,synonymous_variant,p.=,ENST00000530839,NM_152852.2;MS4A6A,synonymous_variant,p.=,ENST00000412309,NM_022349.3,NM_001247999.1;MS4A6A,synonymous_variant,p.=,ENST00000529054,;MS4A6A,synonymous_variant,p.=,ENST00000532169,;MS4A6A,synonymous_variant,p.=,ENST00000420732,;MS4A6A,intron_variant,,ENST00000426738,;MS4A6A,intron_variant,,ENST00000533023,;MS4A6A,intron_variant,,ENST00000533989,;MS4A6A,downstream_gene_variant,,ENST00000533409,;MS4A6A,downstream_gene_variant,,ENST00000534596,;MS4A6A,downstream_gene_variant,,ENST00000531531,;MS4A6A,non_coding_transcript_exon_variant,,ENST00000529906,;MS4A6A,downstream_gene_variant,,ENST00000528925,;MS4A6A,synonymous_variant,p.=,ENST00000527254,;MS4A6A,non_coding_transcript_exon_variant,,ENST00000526677,;MS4A6A,non_coding_transcript_exon_variant,,ENST00000530179,;MS4A6A,intron_variant,,ENST00000525549,;MS4A6A,upstream_gene_variant,,ENST00000531914,;MS4A6A,downstream_gene_variant,,ENST00000533660,;MS4A6A,downstream_gene_variant,,ENST00000526697,;	uc001nor.2	c.228C>T	721/1383	1	1			c.228C>T						11	SNP	c.(226-228)ACC>ACT	49	49				0	Broad	membrane-spanning 4-domains, subfamily A, member			59947358		0.468	ENSG00000110077	9683	g.chr11:59947358G>A		integral to membrane	receptor activity							72.772008	KEEP	16	11	-1	33	38	16	11	-1	77.067562	33	38	0.278351	1	0	0	0	0	0	0	1	0	--	--		0	A			MS4A6A_uc001noq.2_Silent_p.T76T|MS4A6A_uc001nos.3_Silent_p.T104T|MS4A6A_uc009ymv.2_Silent_p.T76T|MS4A6A_uc001not.2_Silent_p.T76T|MS4A6A_uc010rla.1_Silent_p.T104T|MS4A6A_uc010rlb.1_Intron	191	GBM-27-1832-TP	p.T76T	G	AAGTCACTTGGGTAAAATTTG	NM_152852	NP_690591	59947358	Q9H2W1	M4A6A_HUMAN	0			3	466	-	A	A			Silent	76			Extracellular (Potential).			
MS4A6E	0	broad.mit.edu	GRCh37	11	60102450	60102450	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6191-01	TCGA-76-6191-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300182.4:c.82G>A	p.Glu28Lys	p.E28K	ENST00000300182	NM_139249.2	28	Gaa/Aaa	0			1			A	E/K	uc001npd.2	protein_coding	YES	CCDS7984.1			82/444										0	c.(82-84)GAA>AAA			hmmpanther:PTHR23320:SF53,hmmpanther:PTHR23320	membrane-spanning 4-domains, subfamily A, member				ENSP00000300182		4-Jan	4.94E-05		0.000173			4.50E-05		6.06E-05	rs761819409	4-Jan	.		ENST00000300182	Transcript				integral to membrane	receptor activity	ENSG00000166926	g.chr11:60102450G>A	14285			MODERATE		0.295	neutral	getma.org/?cm=msa&ty=f&p=M4A6E_HUMAN&rb=1&re=37&var=E28K	NA	getma.org/?cm=var&var=hg19,11,60102450,G,A&fts=all	E28K	--	--	1																																				1		benign(0.002)	p.E28K	NM_139249	NP_640342		tolerated(0.91)		M4A6E_HUMAN	MS4A6E	HGNC	Q96DS6	M4A6E_HUMAN			H0YD45_HUMAN		1	96	+			UPI0000073D4C	28			Cytoplasmic (Potential).		SNV	MS4A6E,missense_variant,p.Glu28Lys,ENST00000300182,NM_139249.2;MS4A6E,start_lost,p.Glu1?,ENST00000530509,;MS4A6E,missense_variant,p.Glu3Lys,ENST00000532756,;	uc001npd.2	c.82G>A	147/711	1	1			c.82G>A						11	SNP	c.(82-84)GAA>AAA	52	52				0	Broad	membrane-spanning 4-domains, subfamily A, member			60102450		0.443	ENSG00000166926	9684	g.chr11:60102450G>A		integral to membrane	receptor activity							142.959429	KEEP	20	30	-1	39	37	20	30	-1	143.858875	39	37	0.40678	1	0	0	0	0	1	0	0	0	--	--		0	A				274	GBM-76-6191-TP	p.E28K	G	AGAGAAACCCGAACCCACCAA	NM_139249	NP_640342	60102450	Q96DS6	M4A6E_HUMAN	0			1	96	+	A	A			Missense_Mutation	28			Cytoplasmic (Potential).			
MS4A7	58475	broad.mit.edu	GRCh37	11	60150731	60150731	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300184.3:c.117C>T	p.Asn39=	p.N39=	ENST00000300184	NM_206939.1	39	aaC/aaT	0			1			T	N	uc001npe.2	protein_coding	YES	CCDS7985.1			117/723									ovary(1)|central_nervous_system(1)	2	c.(115-117)AAC>AAT			hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF8	membrane-spanning 4-domains, subfamily A, member				ENSP00000300184		7-Feb	8.24E-06					1.50E-05			rs767560560,COSM2149726	7-Feb	.		ENST00000300184	Transcript				integral to membrane	receptor activity	ENSG00000166927	g.chr11:60150731C>T	13378			LOW								--	--	1																																		MS4A7_uc001npf.2_Silent_p.N39N|MS4A7_uc001npg.2_Silent_p.N39N|MS4A7_uc001nph.2_Silent_p.N39N|MS4A14_uc001npi.2_Intron|MS4A7_uc009ymx.1_Silent_p.N39N	0,1	1			p.N39N	NM_206939	NP_996822			0,1	MS4A7_HUMAN	MS4A7	HGNC	Q9GZW8	MS4A7_HUMAN					2	262	+			UPI0000043671	39			Cytoplasmic (Potential).		SNV	MS4A7,synonymous_variant,p.=,ENST00000358246,NM_206938.1,NM_206940.1;MS4A7,synonymous_variant,p.=,ENST00000300184,NM_206939.1,NM_021201.4;MS4A7,synonymous_variant,p.=,ENST00000534016,;MS4A7,synonymous_variant,p.=,ENST00000530234,;MS4A7,synonymous_variant,p.=,ENST00000530614,;MS4A7,synonymous_variant,p.=,ENST00000530027,;MS4A7,synonymous_variant,p.=,ENST00000528215,;MS4A14,intron_variant,,ENST00000531787,;MS4A7,non_coding_transcript_exon_variant,,ENST00000528808,;MS4A7,non_coding_transcript_exon_variant,,ENST00000528500,;MS4A6E,intron_variant,,ENST00000532756,;MS4A7,upstream_gene_variant,,ENST00000534310,;	uc001npe.2	c.117C>T	313/1869	2	2			c.117C>T						11	SNP	c.(115-117)AAC>AAT	17	17			ovary(1)|central_nervous_system(1)	2	Broad	membrane-spanning 4-domains, subfamily A, member			60150731		0.438	ENSG00000166927	9685	g.chr11:60150731C>T		integral to membrane	receptor activity							109.216085	KEEP	17	21	-1	24	23	17	21	-1	109.313398	24	23	0.463415	1	0	0	0	0	0	0	1	0	--	--		0	T			MS4A7_uc001npf.2_Silent_p.N39N|MS4A7_uc001npg.2_Silent_p.N39N|MS4A7_uc001nph.2_Silent_p.N39N|MS4A14_uc001npi.2_Intron|MS4A7_uc009ymx.1_Silent_p.N39N	23	GBM-06-0145-TP	p.N39N	C	ACCTGCAGAACGGGCTGCCAA	NM_206939	NP_996822	60150731	Q9GZW8	MS4A7_HUMAN	0			2	262	+	T	T			Silent	39			Cytoplasmic (Potential).			
MS4A7	58475	broad.mit.edu	GRCh37	11	60150731	60150731	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0184-01	TCGA-06-0184-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300184.3:c.117C>T	p.Asn39=	p.N39=	ENST00000300184	NM_206939.1	39	aaC/aaT	0			1			T	N	uc001npe.2	protein_coding	YES	CCDS7985.1			117/723									ovary(1)|central_nervous_system(1)	2	c.(115-117)AAC>AAT			hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF8	membrane-spanning 4-domains, subfamily A, member				ENSP00000300184		7-Feb	8.24E-06					1.50E-05			rs767560560,COSM2149726	7-Feb	.		ENST00000300184	Transcript				integral to membrane	receptor activity	ENSG00000166927	g.chr11:60150731C>T	13378			LOW								--	--	1																																		MS4A7_uc001npf.2_Silent_p.N39N|MS4A7_uc001npg.2_Silent_p.N39N|MS4A7_uc001nph.2_Silent_p.N39N|MS4A14_uc001npi.2_Intron|MS4A7_uc009ymx.1_Silent_p.N39N	0,1	1			p.N39N	NM_206939	NP_996822			0,1	MS4A7_HUMAN	MS4A7	HGNC	Q9GZW8	MS4A7_HUMAN					2	262	+			UPI0000043671	39			Cytoplasmic (Potential).		SNV	MS4A7,synonymous_variant,p.=,ENST00000358246,NM_206938.1,NM_206940.1;MS4A7,synonymous_variant,p.=,ENST00000300184,NM_206939.1,NM_021201.4;MS4A7,synonymous_variant,p.=,ENST00000534016,;MS4A7,synonymous_variant,p.=,ENST00000530234,;MS4A7,synonymous_variant,p.=,ENST00000530614,;MS4A7,synonymous_variant,p.=,ENST00000530027,;MS4A7,synonymous_variant,p.=,ENST00000528215,;MS4A14,intron_variant,,ENST00000531787,;MS4A7,non_coding_transcript_exon_variant,,ENST00000528808,;MS4A7,non_coding_transcript_exon_variant,,ENST00000528500,;MS4A6E,intron_variant,,ENST00000532756,;MS4A7,upstream_gene_variant,,ENST00000534310,;	uc001npe.2	c.117C>T	313/1869	2	2			c.117C>T						11	SNP	c.(115-117)AAC>AAT	17	17			ovary(1)|central_nervous_system(1)	2	Broad	membrane-spanning 4-domains, subfamily A, member			60150731		0.438	ENSG00000166927	9685	g.chr11:60150731C>T		integral to membrane	receptor activity							91.574473	KEEP	23	18	-1	33	35	23	18	-1	93.570005	33	35	0.344086	1	0	0	0	0	0	0	1	0	--	--		0	T			MS4A7_uc001npf.2_Silent_p.N39N|MS4A7_uc001npg.2_Silent_p.N39N|MS4A7_uc001nph.2_Silent_p.N39N|MS4A14_uc001npi.2_Intron|MS4A7_uc009ymx.1_Silent_p.N39N	39	GBM-06-0184-TP	p.N39N	C	ACCTGCAGAACGGGCTGCCAA	NM_206939	NP_996822	60150731	Q9GZW8	MS4A7_HUMAN	0			2	262	+	T	T			Silent	39			Cytoplasmic (Potential).			
MS4A7	58475		GRCh37	11	60161321	60161321	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000300184.3:c.710G>A	p.Arg237Gln	p.R237Q	ENST00000300184	NM_206939.1	237	cGg/cAg	0																																																																																																																																																																																																																																												
MS4A8	83661	broad.mit.edu	GRCh37	11	60470943	60470943	+	synonymous_variant	Silent	SNP	C	C	T	rs144254483		TCGA-06-1804-01	TCGA-06-1804-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300226.2:c.312C>T	p.Tyr104=	p.Y104=	ENST00000300226	NM_031457.1	104	taC/taT	0	T:0.0005	T:0	1	T:0		T	Y	uc001npv.2	protein_coding	YES	CCDS7990.1			312/753										0	c.(310-312)TAC>TAT			Pfam_domain:PF04103,hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF14,Transmembrane_helices:TMhelix	membrane-spanning 4-domains, subfamily A, member		T:0.001	T:0	ENSP00000300226	T:0	7-Mar	6.59E-05	9.61E-05		0.000231				0.000303	rs144254483,COSM2152519	7-Mar	.		ENST00000300226	Transcript		T:0.0002		integral to membrane	receptor activity	ENSG00000166959	g.chr11:60470943C>T	13380			LOW								--	--	1																																		MS4A8B_uc009yne.1_Silent_p.Y104Y	0,1	1			p.Y104Y	NM_031457	NP_113645	T:0		0,1	M4A8_HUMAN	MS4A8	HGNC	Q9BY19	M4A8B_HUMAN					3	515	+			UPI0000047F97	104			Helical; (Potential).		SNV	MS4A8,synonymous_variant,p.=,ENST00000300226,NM_031457.1;MS4A8,synonymous_variant,p.=,ENST00000529752,;MS4A8,synonymous_variant,p.=,ENST00000525458,;MS4A8,3_prime_UTR_variant,,ENST00000532816,;MS4A8,non_coding_transcript_exon_variant,,ENST00000533691,;MS4A8,non_coding_transcript_exon_variant,,ENST00000532953,;MS4A8,non_coding_transcript_exon_variant,,ENST00000533354,;MS4A8,non_coding_transcript_exon_variant,,ENST00000450141,;MS4A8,downstream_gene_variant,,ENST00000534316,;	uc001npv.2	c.312C>T	515/1353	2	2			c.312C>T						11	SNP	c.(310-312)TAC>TAT	24	24				0	Broad	membrane-spanning 4-domains, subfamily A, member			60470943		0.567	ENSG00000166959	9686	g.chr11:60470943C>T		integral to membrane	receptor activity							202.931391	KEEP	43	40	-1	66	69	43	40	-1	205.572176	66	69	0.373684	1	0	0	0	0	0	0	1	0	--	--		0	T			MS4A8B_uc009yne.1_Silent_p.Y104Y	79	GBM-06-1804-TP	p.Y104Y	C	TTTCATTCTACGGAGGCTTTC	NM_031457	NP_113645	60470943	Q9BY19	M4A8B_HUMAN	0			3	515	+	T	T			Silent	104			Helical; (Potential).			
MS4A8	0	broad.mit.edu	GRCh37	11	60470903	60470903	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-1442-01	TCGA-26-1442-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300226.2:c.272C>T	p.Ala91Val	p.A91V	ENST00000300226	NM_031457.1	91	gCg/gTg	0		T:0.0008	1	T:0		T	A/V	uc001npv.2	protein_coding	YES	CCDS7990.1			272/753										0	c.(271-273)GCG>GTG			Pfam_domain:PF04103,hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF14,Transmembrane_helices:TMhelix	membrane-spanning 4-domains, subfamily A, member		T:0		ENSP00000300226	T:0	7-Mar	8.24E-06	9.61E-05							rs572019233,COSM1676070	7-Mar	.		ENST00000300226	Transcript		T:0.0002		integral to membrane	receptor activity	ENSG00000166959	g.chr11:60470903C>T	13380			MODERATE		-0.53	neutral	getma.org/?cm=msa&ty=f&p=M4A8B_HUMAN&rb=71&re=207&var=A91V	NA	getma.org/?cm=var&var=hg19,11,60470903,C,T&fts=all	A91V	--	--	1																																		MS4A8B_uc009yne.1_Missense_Mutation_p.A91V	0,1	1		benign(0.01)	p.A91V	NM_031457	NP_113645	T:0	tolerated(0.9)	0,1	M4A8_HUMAN	MS4A8	HGNC	Q9BY19	M4A8B_HUMAN					3	475	+			UPI0000047F97	91			Helical; (Potential).		SNV	MS4A8,missense_variant,p.Ala91Val,ENST00000300226,NM_031457.1;MS4A8,missense_variant,p.Ala91Val,ENST00000529752,;MS4A8,missense_variant,p.Ala73Val,ENST00000525458,;MS4A8,3_prime_UTR_variant,,ENST00000532816,;MS4A8,non_coding_transcript_exon_variant,,ENST00000533691,;MS4A8,non_coding_transcript_exon_variant,,ENST00000532953,;MS4A8,non_coding_transcript_exon_variant,,ENST00000533354,;MS4A8,non_coding_transcript_exon_variant,,ENST00000450141,;MS4A8,downstream_gene_variant,,ENST00000534316,;	uc001npv.2	c.272C>T	475/1353	1	1			c.272C>T						11	SNP	c.(271-273)GCG>GTG	1	1				0	Broad	membrane-spanning 4-domains, subfamily A, member			60470903		0.552	ENSG00000166959	9686	g.chr11:60470903C>T		integral to membrane	receptor activity							113.257658	KEEP	15	28	-1	42	30	15	28	-1	114.357825	42	30	0.390476	1	0	0	0	0	1	0	0	0	--	--		0	T			MS4A8B_uc009yne.1_Missense_Mutation_p.A91V	180	GBM-26-1442-TP	p.A91V	C	TCCATCATGGCGACGGTTCTC	NM_031457	NP_113645	60470903	Q9BY19	M4A8B_HUMAN	0			3	475	+	T	T			Missense_Mutation	91			Helical; (Potential).			
MS4A8	83661		GRCh37	11	60470906	60470906	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0240-01	TCGA-06-0240-01																				ENST00000300226.2:c.275C>T	p.Thr92Met	p.T92M	ENST00000300226	NM_031457.1	92	aCg/aTg	0																																																																																																																																																																																																																																												
MSH4	4438	broad.mit.edu	GRCh37	1	76272802	76272802	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-6388-01	TCGA-06-6388-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263187.3:c.564T>C	p.Phe188=	p.F188=	ENST00000263187	NM_002440.3	188	ttT/ttC	0			1			C	F	uc001dhd.1	protein_coding	YES	CCDS670.1			564/2811									lung(3)|ovary(2)	5	c.(562-564)TTT>TTC		MMR	hmmpanther:PTHR11361,hmmpanther:PTHR11361:SF21,Pfam_domain:PF05188,Gene3D:3.30.420.110	mutS homolog 4				ENSP00000263187		20-Mar									COSM3401006,COSM3401005	20-Mar	.		ENST00000263187	Transcript			chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	ENSG00000057468	g.chr1:76272802T>C	7327			LOW								--	--	1																																			1,1	1			p.F188F	NM_002440	NP_002431			1,1	MSH4_HUMAN	MSH4	HGNC	O15457	MSH4_HUMAN			Q5ZEZ0_HUMAN		3	605	+			UPI000006D934	188					SNV	MSH4,synonymous_variant,p.=,ENST00000263187,NM_002440.3;	uc001dhd.1	c.564T>C	668/3266	4	4			c.564T>C						1	SNP	c.(562-564)TTT>TTC	46	46			lung(3)|ovary(2)	5	Broad	mutS homolog 4	MMR		76272802		0.373	ENSG00000057468	9691	g.chr1:76272802T>C	chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding							94.380678	KEEP	14	22	-1	44	34	14	22	-1	96.989218	44	34	0.326531	1	0	0	0	0	0	0	1	0	--	--		0	C				104	GBM-06-6388-TP	p.F188F	T	TATCCCAGTTTGCAGACAACA	NM_002440	NP_002431	76272802	O15457	MSH4_HUMAN	0			3	605	+	C	C			Silent	188						
MSH4	0	broad.mit.edu	GRCh37	1	76288094	76288094	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A			TCGA-19-5947-01	TCGA-19-5947-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263187.3:c.990G>A	p.Arg330=	p.R330=	ENST00000263187	NM_002440.3	330	agG/agA	0			1			A	R	uc001dhd.1	protein_coding	YES	CCDS670.1			990/2811									lung(3)|ovary(2)	5	c.(988-990)AGG>AGA		MMR	hmmpanther:PTHR11361,hmmpanther:PTHR11361:SF21,Gene3D:1.10.1420.10,Pfam_domain:PF05192,SMART_domains:SM00533,Superfamily_domains:SSF48334	mutS homolog 4				ENSP00000263187		20-Jul									COSM2156523,COSM3401007	20-Jul	.		ENST00000263187	Transcript			chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	ENSG00000057468	g.chr1:76288094G>A	7327			LOW								--	--	1																																			1,1	1			p.R330R	NM_002440	NP_002431			1,1	MSH4_HUMAN	MSH4	HGNC	O15457	MSH4_HUMAN			Q5ZEZ0_HUMAN		7	1031	+			UPI000006D934	330					SNV	MSH4,splice_region_variant,p.=,ENST00000263187,NM_002440.3;	uc001dhd.1	c.990G>A	1094/3266	2	2			c.990G>A						1	SNP	c.(988-990)AGG>AGA	29	29			lung(3)|ovary(2)	5	Broad	mutS homolog 4	MMR		76288094		0.308	ENSG00000057468	9691	g.chr1:76288094G>A	chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding							69.063048	KEEP	20	12	-1	51	57	20	12	-1	77.39919	51	57	0.225	1	0	0	0	0	0	0	1	0	--	--		0	A				169	GBM-19-5947-TP	p.R330R	G	GTTTTGAAAGGAATAATCACA	NM_002440	NP_002431	76288094	O15457	MSH4_HUMAN	0			7	1031	+	A	A			Silent	330						
MSH4	0	broad.mit.edu	GRCh37	1	76349367	76349367	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-27-1830-01	TCGA-27-1830-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263187.3:c.1968A>T	p.Lys656Asn	p.K656N	ENST00000263187	NM_002440.3	656	aaA/aaT	0			1			T	K/N	uc001dhd.1	protein_coding	YES	CCDS670.1			1968/2811									lung(3)|ovary(2)	5	c.(1966-1968)AAA>AAT		MMR	hmmpanther:PTHR11361,hmmpanther:PTHR11361:SF21,Gene3D:3.40.50.300,Pfam_domain:PF00488,SMART_domains:SM00533,Superfamily_domains:SSF52540	mutS homolog 4				ENSP00000263187		15/20									COSM3401009,COSM3401008	15/20	.		ENST00000263187	Transcript			chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	ENSG00000057468	g.chr1:76349367A>T	7327			MODERATE		0.845	low	getma.org/?cm=msa&ty=f&p=MSH4_HUMAN&rb=635&re=871&var=K656N	getma.org/pdb.php?prot=MSH4_HUMAN&from=635&to=871&var=K656N	getma.org/?cm=var&var=hg19,1,76349367,A,T&fts=all	K656N	--	--	1																																			1,1	1		possibly_damaging(0.451)	p.K656N	NM_002440	NP_002431		deleterious(0.04)	1,1	MSH4_HUMAN	MSH4	HGNC	O15457	MSH4_HUMAN			Q5ZEZ0_HUMAN		15	2009	+			UPI000006D934	656					SNV	MSH4,missense_variant,p.Lys656Asn,ENST00000263187,NM_002440.3;	uc001dhd.1	c.1968A>T	2072/3266	2	2			c.1968A>T						1	SNP	c.(1966-1968)AAA>AAT	32	32			lung(3)|ovary(2)	5	Broad	mutS homolog 4	MMR		76349367		0.313	ENSG00000057468	9691	g.chr1:76349367A>T	chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding							126.362772	KEEP	27	18	-1	43	45	27	18	-1	128.449553	43	45	0.360656	1	0	0	0	0	1	0	0	0	--	--		0	T				189	GBM-27-1830-TP	p.K656N	A	TTCTTGAAAAAATATCTGCGG	NM_002440	NP_002431	76349367	O15457	MSH4_HUMAN	0			15	2009	+	T	T			Missense_Mutation	656						
MSH5	0	broad.mit.edu	GRCh37	6	31729252	31729252	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1456-01	TCGA-14-1456-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375750.3:c.2041G>A	p.Asp681Asn	p.D681N	ENST00000375750	NM_172165.3	681	Gat/Aat	0			1			A	D/N	uc003nwv.1	protein_coding		CCDS4720.1			2041/2505									ovary(2)|breast(1)	3	c.(2041-2043)GAT>AAT		Direct_reversal_of_damage|MMR	Gene3D:3.40.50.300,Pfam_domain:PF00488,PROSITE_patterns:PS00486,hmmpanther:PTHR11361,hmmpanther:PTHR11361:SF20,SMART_domains:SM00534,Superfamily_domains:SSF52540	mutS homolog 5 isoform c				ENSP00000364903		22/25									COSM3410945,COSM3410944,COSM3410943	22/25	.		ENST00000375750	Transcript			chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	ENSG00000204410	g.chr6:31729252G>A	7328			MODERATE		3.83	high	getma.org/?cm=msa&ty=f&p=MSH5_HUMAN&rb=544&re=780&var=D681N	getma.org/pdb.php?prot=MSH5_HUMAN&from=544&to=780&var=D681N	getma.org/?cm=var&var=hg19,6,31729252,G,A&fts=all	D681N	--	--	1																																		MSH5_uc003nwt.1_Missense_Mutation_p.D698N|MSH5_uc003nwu.1_Missense_Mutation_p.D682N|MSH5_uc003nww.1_Missense_Mutation_p.D681N|MSH5_uc003nwx.1_Missense_Mutation_p.D699N|MSH5_uc011dof.1_Missense_Mutation_p.D380N|MSH5_uc003nwy.1_Missense_Mutation_p.D355N|MSH5_uc003nwz.3_RNA|C6orf26_uc003nxa.3_5'Flank	1,1,1			probably_damaging(0.995)	p.D681N	NM_172166	NP_751898		deleterious(0.01)	1,1,1	MSH5_HUMAN	MSH5	HGNC	O43196	MSH5_HUMAN			Q5SSR2_HUMAN,B4DZX3_HUMAN		22	2120	+			UPI000012F5F7	681					SNV	MSH5,missense_variant,p.Asp698Asn,ENST00000534153,;MSH5,missense_variant,p.Asp681Asn,ENST00000375755,NM_002441.4;MSH5,missense_variant,p.Asp698Asn,ENST00000375742,;MSH5,missense_variant,p.Asp681Asn,ENST00000375750,NM_172165.3,NM_172166.3;MSH5,missense_variant,p.Asp682Asn,ENST00000375703,;MSH5,missense_variant,p.Asp355Asn,ENST00000395853,;MSH5,missense_variant,p.Asp699Asn,ENST00000375740,NM_025259.5;MSH5,missense_variant,p.Asp380Asn,ENST00000431848,;MSH5,missense_variant,p.Asp19Asn,ENST00000429846,;VWA7,downstream_gene_variant,,ENST00000375686,NM_025258.2;VWA7,downstream_gene_variant,,ENST00000375688,;MSH5,downstream_gene_variant,,ENST00000450148,;SAPCD1,upstream_gene_variant,,ENST00000415669,NM_001039651.1;SAPCD1,upstream_gene_variant,,ENST00000425424,;SAPCD1,upstream_gene_variant,,ENST00000433778,;RNU6-850P,upstream_gene_variant,,ENST00000516934,;SAPCD1-AS1,downstream_gene_variant,,ENST00000419679,;MSH5-SAPCD1,non_coding_transcript_exon_variant,,ENST00000491552,;VWA7,downstream_gene_variant,,ENST00000467576,;MSH5,downstream_gene_variant,,ENST00000468602,;MSH5-SAPCD1,missense_variant,p.Asp698Asn,ENST00000493662,;MSH5-SAPCD1,missense_variant,p.Asp206Asn,ENST00000498473,;MSH5,missense_variant,p.Asp89Asn,ENST00000484309,;MSH5,3_prime_UTR_variant,,ENST00000423982,;MSH5,3_prime_UTR_variant,,ENST00000463144,;MSH5-SAPCD1,upstream_gene_variant,,ENST00000476085,;VWA7,downstream_gene_variant,,ENST00000486423,;MSH5,downstream_gene_variant,,ENST00000468136,;MSH5,downstream_gene_variant,,ENST00000467319,;SAPCD1,upstream_gene_variant,,ENST00000494299,;MSH5,downstream_gene_variant,,ENST00000494646,;MSH5,upstream_gene_variant,,ENST00000494458,;	uc003nwv.1	c.2041G>A	2166/2775	2	2			c.2041G>A						6	SNP	c.(2041-2043)GAT>AAT	45	45			ovary(2)|breast(1)	3	Broad	mutS homolog 5 isoform c	Direct_reversal_of_damage|MMR		31729252		0.577	ENSG00000204410	9692	g.chr6:31729252G>A	chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			274			274	-0.010121	KEEP	11	7	-1	131	93	11	7	-1	34.114796	131	93	0.079365	1	0	0	0	0	1	0	0	0	--	--		0	A			MSH5_uc003nwt.1_Missense_Mutation_p.D698N|MSH5_uc003nwu.1_Missense_Mutation_p.D682N|MSH5_uc003nww.1_Missense_Mutation_p.D681N|MSH5_uc003nwx.1_Missense_Mutation_p.D699N|MSH5_uc011dof.1_Missense_Mutation_p.D380N|MSH5_uc003nwy.1_Missense_Mutation_p.D355N|MSH5_uc003nwz.3_RNA|C6orf26_uc003nxa.3_5'Flank	146	GBM-14-1456-TP	p.D681N	G	TTTGCAGGTGGATGGGCTCGC	NM_172166	NP_751898	31729252	O43196	MSH5_HUMAN	0			22	2120	+	A	A			Missense_Mutation	681						
MSH5	0	broad.mit.edu	GRCh37	6	31721395	31721395	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-5958-01	TCGA-19-5958-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375750.3:c.1003G>T	p.Val335Phe	p.V335F	ENST00000375750	NM_172165.3	335	Gtt/Ttt	0			1			T	V/F	uc003nwv.1	protein_coding		CCDS4720.1			1003/2505									ovary(2)|breast(1)	3	c.(1003-1005)GTT>TTT		Direct_reversal_of_damage|MMR	Gene3D:1.10.1420.10,Pfam_domain:PF05192,hmmpanther:PTHR11361,hmmpanther:PTHR11361:SF20,SMART_domains:SM00533,Superfamily_domains:SSF48334	mutS homolog 5 isoform c				ENSP00000364903		25-Dec									COSM2156845,COSM2156844	25-Dec	.		ENST00000375750	Transcript			chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	ENSG00000204410	g.chr6:31721395G>T	7328			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=MSH5_HUMAN&rb=224&re=537&var=V335F	getma.org/pdb.php?prot=MSH5_HUMAN&from=224&to=537&var=V335F	getma.org/?cm=var&var=hg19,6,31721395,G,T&fts=all	V335F	--	--	1																																		MSH5_uc003nwt.1_Missense_Mutation_p.V352F|MSH5_uc003nwu.1_Missense_Mutation_p.V335F|MSH5_uc003nww.1_Missense_Mutation_p.V335F|MSH5_uc003nwx.1_Missense_Mutation_p.V352F|MSH5_uc011dof.1_Missense_Mutation_p.V34F|MSH5_uc003nwy.1_5'Flank	1,1			benign(0.013)	p.V335F	NM_172166	NP_751898		tolerated(0.58)	1,1	MSH5_HUMAN	MSH5	HGNC	O43196	MSH5_HUMAN			Q5SSR2_HUMAN,B4DZX3_HUMAN		12	1082	+			UPI000012F5F7	335					SNV	MSH5,missense_variant,p.Val352Phe,ENST00000534153,;MSH5,missense_variant,p.Val335Phe,ENST00000375755,NM_002441.4;MSH5,missense_variant,p.Val352Phe,ENST00000375742,;MSH5,missense_variant,p.Val335Phe,ENST00000375750,NM_172165.3,NM_172166.3;MSH5,missense_variant,p.Val335Phe,ENST00000375703,;MSH5,missense_variant,p.Val352Phe,ENST00000375740,NM_025259.5;MSH5,missense_variant,p.Val34Phe,ENST00000431848,;MSH5,missense_variant,p.Val172Phe,ENST00000450148,;MSH5,upstream_gene_variant,,ENST00000395853,;RNU6-850P,downstream_gene_variant,,ENST00000516934,;MSH5,non_coding_transcript_exon_variant,,ENST00000468602,;MSH5-SAPCD1,missense_variant,p.Val352Phe,ENST00000493662,;MSH5,missense_variant,p.Val335Phe,ENST00000423982,;MSH5,3_prime_UTR_variant,,ENST00000463144,;MSH5,3_prime_UTR_variant,,ENST00000497269,;MSH5,non_coding_transcript_exon_variant,,ENST00000468136,;MSH5,upstream_gene_variant,,ENST00000467319,;	uc003nwv.1	c.1003G>T	1128/2775	1	1			c.1003G>T						6	SNP	c.(1003-1005)GTT>TTT	1	1			ovary(2)|breast(1)	3	Broad	mutS homolog 5 isoform c	Direct_reversal_of_damage|MMR		31721395		0.493	ENSG00000204410	9692	g.chr6:31721395G>T	chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding		p.V352I(IM95-Tumor)	274		p.V352I(IM95-Tumor)	274	52.058803	KEEP	12	9	0.571428571	18	28	12	9	0.571428571	53.190728	18	28	0.34	1	0	0	0	0	1	0	0	0	--	--		0	T			MSH5_uc003nwt.1_Missense_Mutation_p.V352F|MSH5_uc003nwu.1_Missense_Mutation_p.V335F|MSH5_uc003nww.1_Missense_Mutation_p.V335F|MSH5_uc003nwx.1_Missense_Mutation_p.V352F|MSH5_uc011dof.1_Missense_Mutation_p.V34F|MSH5_uc003nwy.1_5'Flank	176	GBM-19-5958-TP	p.V335F	G	CGACTGGCAGGTTCTCTACAA	NM_172166	NP_751898	31721395	O43196	MSH5_HUMAN	0			12	1082	+	T	T			Missense_Mutation	335						
MSH6	2956	broad.mit.edu	GRCh37	2	48026476	48026476	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0214-01	TCGA-06-0214-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000234420.5:c.1354A>G	p.Met452Val	p.M452V	ENST00000234420	NM_000179.2	452	Atg/Gtg	0			1			G	M/V	uc002rwd.3	protein_coding	YES	CCDS1836.1			1354/4083	Mis|N|F|S			colorectal|endometrial|ovarian	colorectal				large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168	c.(1354-1356)ATG>GTG		MMR	hmmpanther:PTHR11361:SF31,hmmpanther:PTHR11361,Gene3D:1ewqB01,Pfam_domain:PF01624,PIRSF_domain:PIRSF037677,Superfamily_domains:SSF55271	mutS homolog 6				ENSP00000234420		10-Apr	8.24E-06					1.50E-05			rs780734507,COSM3407879	10-Apr	.	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	ENST00000234420	Transcript	1		determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	ENSG00000116062	g.chr2:48026476A>G	7329			MODERATE		3.33	medium	getma.org/?cm=msa&ty=f&p=MSH6_HUMAN&rb=407&re=526&var=M452V	getma.org/pdb.php?prot=MSH6_HUMAN&from=407&to=526&var=M452V	getma.org/?cm=var&var=hg19,2,48026476,A,G&fts=all	M452V	--	--	1																																		MSH6_uc002rwc.2_Missense_Mutation_p.M452V|MSH6_uc010fbj.2_Missense_Mutation_p.M150V|MSH6_uc010yoi.1_Missense_Mutation_p.M322V|MSH6_uc010yoj.1_Missense_Mutation_p.M150V	0,1	1		probably_damaging(0.976)	p.M452V	NM_000179	NP_000170		deleterious(0)	0,1	MSH6_HUMAN	MSH6	HGNC	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		U3KQ72_HUMAN,F5H2F9_HUMAN,C9JH55_HUMAN,C9J8Y8_HUMAN,C9J7Y7_HUMAN		4	1506	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	UPI00000405F8	452					SNV	MSH6,missense_variant,p.Met452Val,ENST00000234420,NM_000179.2;MSH6,missense_variant,p.Met150Val,ENST00000538136,NM_001281494.1;MSH6,missense_variant,p.Met322Val,ENST00000540021,NM_001281492.1,NM_001281493.1;FBXO11,intron_variant,,ENST00000405808,;MSH6,downstream_gene_variant,,ENST00000455383,;MSH6,downstream_gene_variant,,ENST00000411819,;MSH6,downstream_gene_variant,,ENST00000420813,;MSH6,3_prime_UTR_variant,,ENST00000445503,;FBXO11,intron_variant,,ENST00000434234,;MSH6,downstream_gene_variant,,ENST00000456246,;RPL36AP15,upstream_gene_variant,,ENST00000444514,;	uc002rwd.3	c.1354A>G	1506/7476	3	3			c.1354A>G	Mis|N|F|S			colorectal|endometrial|ovarian	colorectal	2	SNP	c.(1354-1356)ATG>GTG	61	61			large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168	Broad	mutS homolog 6	MMR		48026476	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	0.453	ENSG00000116062	9693	g.chr2:48026476A>G	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding			517			517	1.420956	KEEP	6	2	-1	50	55	6	2	-1	19.679708	50	55	0.079208	1	0	0	0	0	1	0	0	0	--	--		0	G			MSH6_uc002rwc.2_Missense_Mutation_p.M452V|MSH6_uc010fbj.2_Missense_Mutation_p.M150V|MSH6_uc010yoi.1_Missense_Mutation_p.M322V|MSH6_uc010yoj.1_Missense_Mutation_p.M150V	50	GBM-06-0214-TP	p.M452V	A	GCTGGTATTCATGAAAGGCAA	NM_000179	NP_000170	48026476	P52701	MSH6_HUMAN	0	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	1506	+	G	G		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Missense_Mutation	452						
MSH6	0	broad.mit.edu	GRCh37	2	48026087	48026087	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01	TCGA-27-1838-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000234420.5:c.965C>T	p.Ala322Val	p.A322V	ENST00000234420	NM_000179.2	322	gCc/gTc	0			1			T	A/V	uc002rwd.3	protein_coding	YES	CCDS1836.1			965/4083	Mis|N|F|S			colorectal|endometrial|ovarian	colorectal				large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168	c.(964-966)GCC>GTC		MMR	hmmpanther:PTHR11361:SF31,hmmpanther:PTHR11361,PIRSF_domain:PIRSF037677	mutS homolog 6				ENSP00000234420		10-Apr									COSM3407878	10-Apr	.	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	ENST00000234420	Transcript	1		determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	ENSG00000116062	g.chr2:48026087C>T	7329			MODERATE		1.085	low	getma.org/?cm=msa&ty=f&p=MSH6_HUMAN&rb=164&re=363&var=A322V	NA	getma.org/?cm=var&var=hg19,2,48026087,C,T&fts=all	A322V	--	--	1																																		MSH6_uc002rwc.2_Missense_Mutation_p.A322V|MSH6_uc010fbj.2_Missense_Mutation_p.A20V|MSH6_uc010yoi.1_Missense_Mutation_p.A192V|MSH6_uc010yoj.1_Missense_Mutation_p.A20V	1	1		benign(0.001)	p.A322V	NM_000179	NP_000170		tolerated(0.31)	1	MSH6_HUMAN	MSH6	HGNC	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		U3KQ72_HUMAN,F5H2F9_HUMAN,C9JH55_HUMAN,C9J8Y8_HUMAN,C9J7Y7_HUMAN		4	1117	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	UPI00000405F8	322					SNV	MSH6,missense_variant,p.Ala322Val,ENST00000234420,NM_000179.2;MSH6,missense_variant,p.Ala20Val,ENST00000538136,NM_001281494.1;MSH6,missense_variant,p.Ala192Val,ENST00000540021,NM_001281492.1,NM_001281493.1;FBXO11,intron_variant,,ENST00000405808,;MSH6,downstream_gene_variant,,ENST00000455383,;MSH6,downstream_gene_variant,,ENST00000411819,;MSH6,downstream_gene_variant,,ENST00000420813,;MSH6,3_prime_UTR_variant,,ENST00000445503,;FBXO11,intron_variant,,ENST00000434234,;MSH6,downstream_gene_variant,,ENST00000456246,;RPL36AP15,upstream_gene_variant,,ENST00000444514,;	uc002rwd.3	c.965C>T	1117/7476	1	1			c.965C>T	Mis|N|F|S			colorectal|endometrial|ovarian	colorectal	2	SNP	c.(964-966)GCC>GTC	3	3			large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168	Broad	mutS homolog 6	MMR		48026087	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	0.473	ENSG00000116062	9693	g.chr2:48026087C>T	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding			517			517	187.731485	KEEP	45	46	-1	130	154	45	46	-1	207.035019	130	154	0.242991	1	0	0	0	0	1	0	0	0	--	--		0	T			MSH6_uc002rwc.2_Missense_Mutation_p.A322V|MSH6_uc010fbj.2_Missense_Mutation_p.A20V|MSH6_uc010yoi.1_Missense_Mutation_p.A192V|MSH6_uc010yoj.1_Missense_Mutation_p.A20V	197	GBM-27-1838-TP	p.A322V	C	ACGCCCTCAGCCACCAAACAA	NM_000179	NP_000170	48026087	P52701	MSH6_HUMAN	0	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	1117	+	T	T		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Missense_Mutation	322						
MSH6	2956		GRCh37	2	48023188	48023190	+	inframe_deletion	In_Frame_Del	DEL	GAA	GAA	-			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000234420.5:c.618_620del	p.Glu207del	p.E207del	ENST00000234420	NM_000179.2	205	GAA/-	0																																																																																																																																																																																																																																												
MSL1	0	broad.mit.edu	GRCh37	17	38285515	38285515	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01	TCGA-27-1830-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398532.4:c.1010G>A	p.Ser337Asn	p.S337N	ENST00000398532	NM_001012241.1	337	aGt/aAt	0			1			A	S/N	uc002hub.2	protein_coding					1010/1845										0	c.(406-408)AGT>AAT			hmmpanther:PTHR21656	hampin				ENSP00000381543		9-Mar									COSM2838694	9-Mar	.		ENST00000398532	Transcript			histone H4-K16 acetylation	MSL complex		ENSG00000188895	g.chr17:38285515G>A	27905			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=MSL1_HUMAN&rb=308&re=612&var=S337N	NA	getma.org/?cm=var&var=hg19,17,38285515,G,A&fts=all	S337N	--	--	1																																		MSL1_uc002hua.3_Missense_Mutation_p.S74N|MSL1_uc002huc.2_Missense_Mutation_p.S74N|MSL1_uc002hud.2_5'Flank	1			benign(0.001)	p.S136N	NM_001012241	NP_001012241		tolerated_low_confidence(0.2)	1	MSL1_HUMAN	MSL1	HGNC	Q68DK7	MSL1_HUMAN			B4DMT3_HUMAN,B3KWR7_HUMAN		3	426	+			UPI00001D79E6	337					SNV	MSL1,missense_variant,p.Ser337Asn,ENST00000398532,NM_001012241.1;MSL1,missense_variant,p.Ser337Asn,ENST00000578648,;MSL1,missense_variant,p.Ser337Asn,ENST00000577454,;MSL1,missense_variant,p.Ser74Asn,ENST00000579565,;MSL1,downstream_gene_variant,,ENST00000582920,;MSL1,missense_variant,p.Ser11Asn,ENST00000582884,;MSL1,upstream_gene_variant,,ENST00000339569,;MSL1,upstream_gene_variant,,ENST00000580086,;MSL1,downstream_gene_variant,,ENST00000578826,;MSL1,upstream_gene_variant,,ENST00000581246,;MSL1,upstream_gene_variant,,ENST00000583127,;	uc002hub.2	c.407G>A	1325/4580	2	2			c.407G>A						17	SNP	c.(406-408)AGT>AAT	29	29				0	Broad	hampin			38285515		0.333	ENSG00000188895	9696	g.chr17:38285515G>A	histone H4-K16 acetylation	MSL complex								-26.469334	KEEP	2	3	-1	86	73	2	3	-1	10.314062	86	73	0.032468	1	0	0	0	0	1	0	0	0	--	--		0	A			MSL1_uc002hua.3_Missense_Mutation_p.S74N|MSL1_uc002huc.2_Missense_Mutation_p.S74N|MSL1_uc002hud.2_5'Flank	189	GBM-27-1830-TP	p.S136N	G	CCATTTGGAAGTACAGAAAGA	NM_001012241	NP_001012241	38285515	Q68DK7	MSL1_HUMAN	0			3	426	+	A	A			Missense_Mutation	337						
MSL3	10943	broad.mit.edu	GRCh37	X	11780954	11780957	+	splice_acceptor_variant,coding_sequence_variant	Splice_Site	DEL	AGTT	AGTT	-			TCGA-06-2567-01	TCGA-06-2567-01	AGTT	AGTT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312196.4:c.590_593del		p.X197_splice	ENST00000312196	NM_078629.3	197		0			1			-		uc004cuw.2	protein_coding	YES	CCDS14147.1			?-590/1566									ovary(1)	1	c.e7-1				male-specific lethal 3-like 1 isoform a				ENSP00000312244		13-Jul										13-Jul	.		ENST00000312196	Transcript			histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	ENSG00000005302	g.chrX:11780954_11780957delAGTT	7370	3		HIGH	12-Jun							--	--	1																																		MSL3_uc004cuv.1_Splice_Site_p.L197_splice|MSL3_uc004cux.2_Splice_Site_p.L138_splice|MSL3_uc011mig.1_Splice_Site_p.L48_splice|MSL3_uc011mih.1_Splice_Site_p.L185_splice|MSL3_uc004cuy.2_Splice_Site_p.L31_splice|MSL3_uc011mii.1_Splice_Site_p.L31_splice		1			p.L197_splice	NM_078629	NP_523353				MS3L1_HUMAN	MSL3	HGNC	Q8N5Y2	MS3L1_HUMAN			F8WC61_HUMAN,B4E2T7_HUMAN,A6NLU8_HUMAN		7	694	+			UPI000006E6B7						deletion	MSL3,splice_acceptor_variant,p.Leu197Ter,ENST00000337339,NM_078628.1;MSL3,splice_acceptor_variant,p.Leu31Ter,ENST00000380693,NM_006800.3;MSL3,splice_acceptor_variant,p.Leu197Ter,ENST00000312196,NM_078629.3;MSL3,splice_acceptor_variant,p.Leu185Ter,ENST00000398527,NM_001193270.1;MSL3,splice_acceptor_variant,p.Leu48Ter,ENST00000361672,NM_001282174.1;MSL3,splice_acceptor_variant,p.Leu31Ter,ENST00000380692,;MSL3,splice_acceptor_variant,p.Leu185Ter,ENST00000421368,;MSL3,downstream_gene_variant,,ENST00000476743,;MSL3,splice_acceptor_variant,,ENST00000483645,;MSL3,upstream_gene_variant,,ENST00000467141,;MSL3,downstream_gene_variant,,ENST00000473806,;MSL3,splice_acceptor_variant,,ENST00000468149,;MSL3,splice_acceptor_variant,,ENST00000494268,;MSL3,splice_acceptor_variant,,ENST00000482871,;MSL3,upstream_gene_variant,,ENST00000380691,;MSL3,downstream_gene_variant,,ENST00000478462,;	uc004cuw.2	c.589_splice	?-695/2343	5	5			c.589_splice						23	DEL	c.e7-1	50	50			ovary(1)	1	Broad	male-specific lethal 3-like 1 isoform a			11780957		0.368	ENSG00000005302	9698	g.chrX:11780954_11780957delAGTT	histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity																				0.69	1	1	0	1	0	0	0	0	1	--	--		0	-			MSL3_uc004cuv.1_Splice_Site_p.L197_splice|MSL3_uc004cux.2_Splice_Site_p.L138_splice|MSL3_uc011mig.1_Splice_Site_p.L48_splice|MSL3_uc011mih.1_Splice_Site_p.L185_splice|MSL3_uc004cuy.2_Splice_Site_p.L31_splice|MSL3_uc011mii.1_Splice_Site_p.L31_splice	89	GBM-06-2567-TP	p.L197_splice	AGTT	TTTTGTTAACAGTTAGTGAAACTT	NM_078629	NP_523353	11780954	Q8N5Y2	MS3L1_HUMAN	0			7	694	+	-	-			Splice_Site							
MSL3	0	broad.mit.edu	GRCh37	X	11790274	11790274	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A			TCGA-26-5136-01	TCGA-26-5136-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312196.4:c.1282-1G>A		p.X428_splice	ENST00000312196	NM_078629.3			0			1			A		uc004cuw.2	protein_coding	YES	CCDS14147.1			1282/1566									ovary(1)	1	c.e11-1				male-specific lethal 3-like 1 isoform a				ENSP00000312244											COSM2157140,COSM3405871		.		ENST00000312196	Transcript			histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	ENSG00000005302	g.chrX:11790274G>A	7370			HIGH	12-Oct							--	--	1																																		MSL3_uc004cux.2_Splice_Site_p.V369_splice|MSL3_uc011mig.1_Splice_Site_p.V279_splice|MSL3_uc011mih.1_Splice_Site_p.V416_splice|MSL3_uc004cuy.2_Splice_Site_p.V262_splice	1,1	1			p.V428_splice	NM_078629	NP_523353			1,1	MS3L1_HUMAN	MSL3	HGNC	Q8N5Y2	MS3L1_HUMAN			F8WC61_HUMAN,B4E2T7_HUMAN,A6NLU8_HUMAN		11	1387	+			UPI000006E6B7						SNV	MSL3,splice_acceptor_variant,,ENST00000380693,NM_006800.3;MSL3,splice_acceptor_variant,,ENST00000312196,NM_078629.3;MSL3,splice_acceptor_variant,,ENST00000398527,NM_001193270.1;MSL3,splice_acceptor_variant,,ENST00000361672,NM_001282174.1;MSL3,downstream_gene_variant,,ENST00000337339,NM_078628.1;MSL3,downstream_gene_variant,,ENST00000467141,;MSL3,splice_acceptor_variant,,ENST00000468149,;MSL3,splice_acceptor_variant,,ENST00000473380,;MSL3,downstream_gene_variant,,ENST00000380691,;	uc004cuw.2	c.1282_splice	-/2343	5	1			c.1282_splice						23	SNP	c.e11-1	56	56			ovary(1)	1	Broad	male-specific lethal 3-like 1 isoform a			11790274		0.443	ENSG00000005302	9698	g.chrX:11790274G>A	histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity							607.672575	KEEP	116	97	-1	169	148	116	97	-1	611.27335	169	148	0.405229	1	0	0	0	0	0	0	0	1	--	--		0	A			MSL3_uc004cux.2_Splice_Site_p.V369_splice|MSL3_uc011mig.1_Splice_Site_p.V279_splice|MSL3_uc011mih.1_Splice_Site_p.V416_splice|MSL3_uc004cuy.2_Splice_Site_p.V262_splice	185	GBM-26-5136-TP	p.V428_splice	G	GCTTTTTCCAGGTCCTCTCCT	NM_078629	NP_523353	11790274	Q8N5Y2	MS3L1_HUMAN	0			11	1387	+	A	A			Splice_Site							
MSL3	10943		GRCh37	X	11790350	11790350	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0167-01	TCGA-06-0167-01																				ENST00000312196.4:c.1357G>A	p.Ala453Thr	p.A453T	ENST00000312196	NM_078629.3	453	Gca/Aca	0																																																																																																																																																																																																																																												
MSL3	10943		GRCh37	X	11790368	11790371	+	frameshift_variant	Frame_Shift_Del	DEL	TTGT	TTGT	-			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000312196.4:c.1378_1381del	p.Phe460Ter	p.F460*	ENST00000312196	NM_078629.3	459	TTGTtt/tt	0																																																																																																																																																																																																																																												
MSLNL	401827	broad.mit.edu	GRCh37	16	822701	822701	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5415-01	TCGA-06-5415-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000293892.3:c.2406C>T	p.Ile802=	p.I802=	ENST00000293892		802	atC/atT	0			1			A	I	uc002cjz.1	protein_coding					1353/2109									breast(3)|ovary(1)	4	c.(2404-2406)ATC>ATT			Pfam_domain:PF06060,hmmpanther:PTHR23412,hmmpanther:PTHR23412:SF15	mesothelin-like				ENSP00000415767		15-Nov									COSM3402513	15-Nov	.		ENST00000442466	Transcript			cell adhesion	integral to membrane		ENSG00000162006	g.chr16:822701G>A	14170			LOW								--	--	1																																			1				p.I802I	NM_001025190	NP_001020361			1	MSLNL_HUMAN	MSLNL	HGNC	Q96KJ4	MSLNL_HUMAN					12	2406	-			UPI0001AE6819	451			Extracellular (Potential).		SNV	MSLNL,synonymous_variant,p.=,ENST00000293892,;MSLNL,synonymous_variant,p.=,ENST00000543963,;MSLNL,synonymous_variant,p.=,ENST00000442466,;MSLN,downstream_gene_variant,,ENST00000566549,;MSLN,downstream_gene_variant,,ENST00000545450,NM_005823.5;MSLN,downstream_gene_variant,,ENST00000382862,NM_013404.4;MSLN,downstream_gene_variant,,ENST00000563941,NM_001177355.1;MSLN,downstream_gene_variant,,ENST00000561896,;MSLN,downstream_gene_variant,,ENST00000566269,;MIR662,downstream_gene_variant,,ENST00000384847,;MSLNL,downstream_gene_variant,,ENST00000537221,;	uc002cjz.1	c.2406C>T	1353/2109	2	2			c.2406C>T						16	SNP	c.(2404-2406)ATC>ATT	46	46			breast(3)|ovary(1)	4	Broad	mesothelin-like			822701		0.647	ENSG00000162006	9700	g.chr16:822701G>A	cell adhesion	integral to membrane								15.168645	KEEP	1	4	-1	1	2	1	4	-1	15.454149	1	2	0.714286	1	0	0	0	0	0	0	1	0	--	--		0	A				98	GBM-06-5415-TP	p.I802I	G	CCTGGGGATGGATGGTCTGGA	NM_001025190	NP_001020361	822701	Q96KJ4	MSLNL_HUMAN	0			12	2406	-	A	A			Silent	451			Extracellular (Potential).			
MSLNL	0	broad.mit.edu	GRCh37	16	820272	820272	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000442466.1:c.1660G>A	p.Val554Met	p.V554M	ENST00000442466		554	Gtg/Atg	0		T:0	1	T:0		T	V/M	uc002cjz.1	protein_coding					1660/2109									breast(3)|ovary(1)	4	c.(2713-2715)GTG>ATG			Pfam_domain:PF06060,hmmpanther:PTHR23412,hmmpanther:PTHR23412:SF15	mesothelin-like		T:0		ENSP00000415767	T:0	14/15	1.67E-05		0.000121			2.15E-05			rs548772489,COSM3402511	14/15	.		ENST00000442466	Transcript		T:0.0002	cell adhesion	integral to membrane		ENSG00000162006	g.chr16:820272C>T	14170			MODERATE								--	--	1																																		MIR662_hsa-mir-662|MI0003670_RNA	0,1			possibly_damaging(0.655)	p.V905M	NM_001025190	NP_001020361	T:0.001	deleterious(0.03)	0,1	MSLNL_HUMAN	MSLNL	HGNC	Q96KJ4	MSLNL_HUMAN					15	2713	-			UPI0001AE6819	554			Extracellular (Potential).		SNV	MSLNL,missense_variant,p.Val905Met,ENST00000293892,;MSLNL,missense_variant,p.Val604Met,ENST00000543963,;MSLNL,missense_variant,p.Val554Met,ENST00000442466,;MSLN,downstream_gene_variant,,ENST00000566549,;MSLN,downstream_gene_variant,,ENST00000545450,NM_005823.5;MSLN,downstream_gene_variant,,ENST00000382862,NM_013404.4;MSLN,downstream_gene_variant,,ENST00000563941,NM_001177355.1;MSLN,downstream_gene_variant,,ENST00000561896,;MSLN,downstream_gene_variant,,ENST00000563651,;MSLN,downstream_gene_variant,,ENST00000566269,;MIR662,non_coding_transcript_exon_variant,,ENST00000384847,;MSLNL,downstream_gene_variant,,ENST00000537221,;	uc002cjz.1	c.2713G>A	1660/2109	2	2			c.2713G>A						16	SNP	c.(2713-2715)GTG>ATG	40	40			breast(3)|ovary(1)	4	Broad	mesothelin-like			820272		0.692	ENSG00000162006	9700	g.chr16:820272C>T	cell adhesion	integral to membrane								21.622179	KEEP	5	3	-1	7	7	5	3	-1	21.737705	7	7	0.411765	1	0	0	0	0	1	0	0	0	--	--		0	T			MIR662_hsa-mir-662|MI0003670_RNA	207	GBM-28-1753-TP	p.V905M	C	AGCGCAGTCACGTTGCCAACA	NM_001025190	NP_001020361	820272	Q96KJ4	MSLNL_HUMAN	0			15	2713	-	T	T			Missense_Mutation	554			Extracellular (Potential).			
MSLNL	0	broad.mit.edu	GRCh37	16	830269	830269	+	intron_variant	Intron	SNP	G	G	A			TCGA-76-6282-01	TCGA-76-6282-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000442466.1:c.38-107C>T		*13*	ENST00000442466				0	A:0.0027	A:0.0023	1	A:0		A		uc002cjz.1	protein_coding					-/2109									breast(3)|ovary(1)	4	c.(730-732)TCC>TCT				mesothelin-like		A:0	A:0	ENSP00000415767	A:0		0.000233	0.00291	9.14E-05			1.60E-05			rs373553451,COSM3402514		common_variant		ENST00000442466	Transcript		A:0.0006	cell adhesion	integral to membrane		ENSG00000162006	g.chr16:830269G>A	14170			MODIFIER	14-Jan							--	--	1																																			0,1				p.S244S	NM_001025190	NP_001020361	A:0		0,1	MSLNL_HUMAN	MSLNL	HGNC	Q96KJ4	MSLNL_HUMAN					3	732	-			UPI0001AE6819	Error:Variant_position_missing_in_Q96KJ4_after_alignment					SNV	MSLNL,synonymous_variant,p.=,ENST00000293892,;MSLNL,intron_variant,,ENST00000543963,;MSLNL,intron_variant,,ENST00000442466,;RPUSD1,downstream_gene_variant,,ENST00000561734,;RPUSD1,downstream_gene_variant,,ENST00000007264,NM_058192.2;RPUSD1,downstream_gene_variant,,ENST00000565809,;RPUSD1,downstream_gene_variant,,ENST00000567114,;MSLNL,upstream_gene_variant,,ENST00000537221,;	uc002cjz.1	c.732C>T	-/2109	2	2			c.732C>T						16	SNP	c.(730-732)TCC>TCT	47	47			breast(3)|ovary(1)	4	Broad	mesothelin-like			830269		0.677	ENSG00000162006	9700	g.chr16:830269G>A	cell adhesion	integral to membrane								6.313828	KEEP	0	3	-1	6	9	0	3	-1	7.991322	6	9	0.176471	1	0	0	0	0	0	0	1	0	--	--		0	A				278	GBM-76-6282-TP	p.S244S	G	TGAGGCCAGAGGACATGGAGG	NM_001025190	NP_001020361	830269	Q96KJ4	MSLNL_HUMAN	0			3	732	-	A	A			Silent	Error:Variant_position_missing_in_Q96KJ4_after_alignment						
MSN	4478	broad.mit.edu	GRCh37	X	64949532	64949532	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-02-2485-01	TCGA-02-2485-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360270.5:c.425A>G	p.His142Arg	p.H142R	ENST00000360270	NM_002444.2	142	cAt/cGt	0			1			G	H/R	uc004dwf.2	protein_coding	YES	CCDS14382.1			425/1734	T		ALK		ALCL		MSN/ALK(6)		haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10	c.(424-426)CAT>CGT			PROSITE_profiles:PS50057,hmmpanther:PTHR23281:SF14,hmmpanther:PTHR23281,Pfam_domain:PF00373,Gene3D:1.20.80.10,SMART_domains:SM00295,PIRSF_domain:PIRSF002305,Superfamily_domains:SSF47031	moesin				ENSP00000353408		13-Apr									COSM3406525	13-Apr	.		ENST00000360270	Transcript			leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton	ENSG00000147065	g.chrX:64949532A>G	7373			MODERATE		3.72	high	getma.org/?cm=msa&ty=f&p=MOES_HUMAN&rb=88&re=206&var=H142R	getma.org/pdb.php?prot=MOES_HUMAN&from=88&to=206&var=H142R	getma.org/?cm=var&var=hg19,X,64949532,A,G&fts=all	H142R	--	--	1																																			1	1		possibly_damaging(0.852)	p.H142R	NM_002444	NP_002435		deleterious(0)	1	MOES_HUMAN	MSN	HGNC	P26038	MOES_HUMAN					4	623	+			UPI000013DA94	142			FERM.		SNV	MSN,missense_variant,p.His142Arg,ENST00000360270,NM_002444.2;MSN,downstream_gene_variant,,ENST00000609672,;	uc004dwf.2	c.425A>G	597/3942	3	3			c.425A>G	T		ALK		ALCL	23	SNP	c.(424-426)CAT>CGT	59	59	MSN/ALK(6)		haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10	Broad	moesin			64949532		0.562	ENSG00000147065	9703	g.chrX:64949532A>G	leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton			172			172	114.224042	KEEP	16	21	-1	1	3	16	21	-1	119.606725	1	3	0.888889	1	0	0	0	0	1	0	0	0	--	--		0	G				7	GBM-02-2485-TP	p.H142R	A	AAGGAAGTGCATAAGTCTGGC	NM_002444	NP_002435	64949532	P26038	MOES_HUMAN	0			4	623	+	G	G			Missense_Mutation	142			FERM.			
MSR1	0	broad.mit.edu	GRCh37	8	16021625	16021625	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-19-2623-01	TCGA-19-2623-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262101.5:c.766C>G	p.Leu256Val	p.L256V	ENST00000262101		256	Ctg/Gtg	0			1			C	L/V	uc003wwz.2	protein_coding	YES	CCDS5995.1			766/1356									ovary(1)	1	c.(766-768)CTG>GTG			hmmpanther:PTHR24021:SF10,hmmpanther:PTHR24021,Prints_domain:PR01408	macrophage scavenger receptor 1 isoform type 1				ENSP00000262101		10-May									COSM3412884,COSM3412885	10-May	.		ENST00000262101	Transcript	1		cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	ENSG00000038945	g.chr8:16021625G>C	7376			MODERATE		2.42	medium	getma.org/?cm=msa&ty=f&p=MSRE_HUMAN&rb=170&re=270&var=L256V	NA	getma.org/?cm=var&var=hg19,8,16021625,G,C&fts=all	L256V	--	--	1																																		MSR1_uc010lsu.2_Missense_Mutation_p.L274V|MSR1_uc003wxa.2_Missense_Mutation_p.L256V|MSR1_uc003wxb.2_Missense_Mutation_p.L256V|MSR1_uc011kxz.1_Missense_Mutation_p.L30V	1,1	1		probably_damaging(0.998)	p.L256V	NM_138715	NP_619729		deleterious(0)	1,1	MSRE_HUMAN	MSR1	HGNC	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	E5RFW8_HUMAN		5	964	-			UPI000012F686	256			Extracellular (Potential).		SNV	MSR1,missense_variant,p.Leu256Val,ENST00000350896,NM_138716.2,NM_138715.2;MSR1,missense_variant,p.Leu256Val,ENST00000381998,NM_002445.3;MSR1,missense_variant,p.Leu256Val,ENST00000262101,;MSR1,missense_variant,p.Leu274Val,ENST00000445506,;MSR1,missense_variant,p.Leu256Val,ENST00000355282,;MSR1,missense_variant,p.Leu30Val,ENST00000536385,;MSR1,missense_variant,p.Leu46Val,ENST00000522672,;MSR1,3_prime_UTR_variant,,ENST00000519060,;	uc003wwz.2	c.766C>G	888/2132	3	3			c.766C>G						8	SNP	c.(766-768)CTG>GTG	58	58			ovary(1)	1	Broad	macrophage scavenger receptor 1 isoform type 1			16021625		0.308	ENSG00000038945	9704	g.chr8:16021625G>C	cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity							54.48425	KEEP	6	10	-1	18	18	6	10	-1	55.664955	18	18	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	C			MSR1_uc010lsu.2_Missense_Mutation_p.L274V|MSR1_uc003wxa.2_Missense_Mutation_p.L256V|MSR1_uc003wxb.2_Missense_Mutation_p.L256V|MSR1_uc011kxz.1_Missense_Mutation_p.L30V	163	GBM-19-2623-TP	p.L256V	G	CAATCTTTCAGTCTGAGATCA	NM_138715	NP_619729	16021625	P21757	MSRE_HUMAN	0		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	5	964	-	C	C			Missense_Mutation	256			Extracellular (Potential).			
MSR1	4481		GRCh37	8	16012638	16012638	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000262101.5:c.833C>T	p.Pro278Leu	p.P278L	ENST00000262101		278	cCg/cTg	0																																																																																																																																																																																																																																												
MST1	4485	broad.mit.edu	GRCh37	3	49724141	49724144	+	frameshift_variant	Frame_Shift_Del	DEL	CTCG	CTCG	-			TCGA-06-0158-01	TCGA-06-0158-01	CTCG	CTCG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449682.2:c.820_823del	p.Arg274SerfsTer251	p.R274Sfs*251	ENST00000449682	NM_020998.3	274	CGAGag/ag	0			1			-	RE/X	uc003cxg.2	protein_coding					595-598/795									lung(1)	1	c.(820-825)CGAGAGfs			Gene3D:2.40.20.10,Pfam_domain:PF00051,Prints_domain:PR00018,PROSITE_profiles:PS50070,hmmpanther:PTHR24272,hmmpanther:PTHR24272:SF43,SMART_domains:SM00130,Superfamily_domains:SSF57440	macrophage stimulating 1 (hepatocyte growth				ENSP00000373234		11-Jun										11-Jun	.		ENST00000383728	Transcript	1		proteolysis	extracellular region	serine-type endopeptidase activity	ENSG00000173531	g.chr3:49724141_49724144delCTCG	7380			HIGH								--	--	1																																		MST1_uc011bcs.1_Frame_Shift_Del_p.S272fs|MST1_uc010hkx.2_Frame_Shift_Del_p.R195fs|MST1_uc011bct.1_Frame_Shift_Del_p.R274fs|MST1_uc011bcu.1_RNA|RNF123_uc003cxh.2_5'Flank					p.R274fs	NM_020998	NP_066278				HGFL_HUMAN	MST1	HGNC	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)			7	892_895	-			UPI0002065A7A	260_261			Kringle 2.		deletion	MST1,frameshift_variant,p.Arg274SerfsTer251,ENST00000449682,NM_020998.3;MST1,frameshift_variant,p.Arg199SerfsTer?,ENST00000383728,;MST1,3_prime_UTR_variant,,ENST00000545762,;RNF123,upstream_gene_variant,,ENST00000327697,NM_022064.3;APEH,downstream_gene_variant,,ENST00000296456,NM_001640.3;RNF123,upstream_gene_variant,,ENST00000432042,;APEH,downstream_gene_variant,,ENST00000438011,;MST1,upstream_gene_variant,,ENST00000448220,;RNF123,upstream_gene_variant,,ENST00000454491,;MST1,downstream_gene_variant,,ENST00000494828,;MST1,downstream_gene_variant,,ENST00000491943,;MST1,non_coding_transcript_exon_variant,,ENST00000488350,;MST1,non_coding_transcript_exon_variant,,ENST00000479115,;MST1,non_coding_transcript_exon_variant,,ENST00000492329,;MST1,non_coding_transcript_exon_variant,,ENST00000497359,;MST1,non_coding_transcript_exon_variant,,ENST00000484269,;MST1,non_coding_transcript_exon_variant,,ENST00000492370,;MST1,non_coding_transcript_exon_variant,,ENST00000484673,;MST1,non_coding_transcript_exon_variant,,ENST00000494809,;MST1,non_coding_transcript_exon_variant,,ENST00000489007,;RNF123,upstream_gene_variant,,ENST00000487805,;RNF123,upstream_gene_variant,,ENST00000486102,;RNF123,upstream_gene_variant,,ENST00000457726,;MST1,upstream_gene_variant,,ENST00000493836,;MST1,upstream_gene_variant,,ENST00000484144,;MST1,upstream_gene_variant,,ENST00000498021,;APEH,downstream_gene_variant,,ENST00000469362,;MST1,downstream_gene_variant,,ENST00000490966,;APEH,downstream_gene_variant,,ENST00000480772,;MST1,upstream_gene_variant,,ENST00000480268,;MST1,downstream_gene_variant,,ENST00000481055,;MST1,upstream_gene_variant,,ENST00000481930,;RNF123,upstream_gene_variant,,ENST00000443204,;AC099668.5,upstream_gene_variant,,ENST00000563780,;MST1,upstream_gene_variant,,ENST00000468847,;	uc003cxg.2	c.820_823delCGAG	652-655/1434	5	5			c.820_823delCGAG						3	DEL	c.(820-825)CGAGAGfs	54	54			lung(1)	1	Broad	macrophage stimulating 1 (hepatocyte growth			49724144		0.662	ENSG00000173531	9708	g.chr3:49724141_49724144delCTCG	proteolysis	extracellular region	serine-type endopeptidase activity	GBM(110;181 1524 8005 22865 46297)			GBM(110;181 1524 8005 22865 46297)																0.37	1	1	0	1	0	0	0	0	0	--	--		0	-			MST1_uc011bcs.1_Frame_Shift_Del_p.S272fs|MST1_uc010hkx.2_Frame_Shift_Del_p.R195fs|MST1_uc011bct.1_Frame_Shift_Del_p.R274fs|MST1_uc011bcu.1_RNA|RNF123_uc003cxh.2_5'Flank	29	GBM-06-0158-TP	p.R274fs	CTCG	TCACAGAACTCTCGCTCGATCTGC	NM_020998	NP_066278	49724141	P26927	HGFL_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	7	892_895	-	-	-			Frame_Shift_Del	260_261			Kringle 2.			
MST1	0	broad.mit.edu	GRCh37	3	49723304	49723304	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T			TCGA-28-5216-01	TCGA-28-5216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000383728.3:c.*339G>A		*113*	ENST00000383728				0			1			T		uc003cxg.2	protein_coding					-/795									lung(1)	1	c.(1237-1239)CCG>CCA				macrophage stimulating 1 (hepatocyte growth				ENSP00000373234		11-Aug									COSM3408745	11-Aug	.		ENST00000383728	Transcript	1		proteolysis	extracellular region	serine-type endopeptidase activity	ENSG00000173531	g.chr3:49723304C>T	7380			MODIFIER								--	--	1																																		MST1_uc011bcs.1_Missense_Mutation_p.R452H	1				p.P413P	NM_020998	NP_066278			1	HGFL_HUMAN	MST1	HGNC	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)			10	1311	-			UPI0002065A7A	399			Kringle 4.		SNV	MST1,synonymous_variant,p.=,ENST00000449682,NM_020998.3;MST1,3_prime_UTR_variant,,ENST00000383728,;RNF123,upstream_gene_variant,,ENST00000327697,NM_022064.3;APEH,downstream_gene_variant,,ENST00000296456,NM_001640.3;RNF123,upstream_gene_variant,,ENST00000432042,;APEH,downstream_gene_variant,,ENST00000438011,;MST1,downstream_gene_variant,,ENST00000545762,;MST1,upstream_gene_variant,,ENST00000448220,;RNF123,upstream_gene_variant,,ENST00000454491,;MST1,downstream_gene_variant,,ENST00000494828,;MST1,downstream_gene_variant,,ENST00000491943,;MST1,non_coding_transcript_exon_variant,,ENST00000488350,;MST1,non_coding_transcript_exon_variant,,ENST00000479115,;MST1,non_coding_transcript_exon_variant,,ENST00000492329,;MST1,non_coding_transcript_exon_variant,,ENST00000497359,;MST1,non_coding_transcript_exon_variant,,ENST00000484269,;MST1,non_coding_transcript_exon_variant,,ENST00000494809,;MST1,non_coding_transcript_exon_variant,,ENST00000498021,;MST1,non_coding_transcript_exon_variant,,ENST00000489007,;MST1,non_coding_transcript_exon_variant,,ENST00000480268,;MST1,non_coding_transcript_exon_variant,,ENST00000468847,;RNF123,upstream_gene_variant,,ENST00000487805,;RNF123,upstream_gene_variant,,ENST00000486102,;RNF123,upstream_gene_variant,,ENST00000457726,;MST1,downstream_gene_variant,,ENST00000492370,;MST1,downstream_gene_variant,,ENST00000484673,;MST1,upstream_gene_variant,,ENST00000493836,;MST1,upstream_gene_variant,,ENST00000484144,;APEH,downstream_gene_variant,,ENST00000469362,;MST1,downstream_gene_variant,,ENST00000490966,;APEH,downstream_gene_variant,,ENST00000480772,;MST1,downstream_gene_variant,,ENST00000481055,;MST1,upstream_gene_variant,,ENST00000481930,;RNF123,upstream_gene_variant,,ENST00000443204,;AC099668.5,upstream_gene_variant,,ENST00000563780,;	uc003cxg.2	c.1239G>A	1191/1434	2	2			c.1239G>A						3	SNP	c.(1237-1239)CCG>CCA	28	28			lung(1)	1	Broad	macrophage stimulating 1 (hepatocyte growth			49723304		0.682	ENSG00000173531	9708	g.chr3:49723304C>T	proteolysis	extracellular region	serine-type endopeptidase activity	GBM(110;181 1524 8005 22865 46297)			GBM(110;181 1524 8005 22865 46297)			-78.464509	KEEP	9	2	-1	159	231	9	2	-1	7.500021	159	231	0.018237	1	0	0	0	0	0	0	1	0	--	--		0	T			MST1_uc011bcs.1_Missense_Mutation_p.R452H	223	GBM-28-5216-TP	p.P413P	C	GCGGCTTGTGCGGCGTCTCAG	NM_020998	NP_066278	49723304	P26927	HGFL_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	10	1311	-	T	T			Silent	399			Kringle 4.			
MST1L	11223		GRCh37	1	17084269	17084269	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000389184.2:n.1733C>A		p.*578*	ENST00000389184				0																																																																																																																																																																																																																																												
MST1L	11223		GRCh37	1	17085872	17085872	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000389184.2:n.919T>C		p.*307*	ENST00000389184				0																																																																																																																																																																																																																																												
MST1R	4486	broad.mit.edu	GRCh37	3	49940194	49940194	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0747-01	TCGA-06-0747-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296474.3:c.849T>C	p.Leu283=	p.L283=	ENST00000296474	NM_002447.2	283	ctT/ctC	0			1			G	L	uc003cxy.3	protein_coding	YES	CCDS2807.1			849/4203									ovary(5)|lung(1)	6	c.(847-849)CTT>CTC			Gene3D:2.130.10.10,Pfam_domain:PF01403,PIRSF_domain:PIRSF000617,PROSITE_profiles:PS51004,SMART_domains:SM00630,Superfamily_domains:SSF101912	macrophage stimulating 1 receptor precursor				ENSP00000296474		20-Jan									COSM2151809,COSM2151808	20-Jan	.		ENST00000296474	Transcript			cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	ENSG00000164078	g.chr3:49940194A>G	7381			LOW								--	--	1																																		MST1R_uc011bdd.1_Silent_p.L283L|MST1R_uc011bde.1_Silent_p.L283L|MST1R_uc011bdf.1_Silent_p.L283L|MST1R_uc011bdg.1_Silent_p.L283L	1,1	1			p.L283L	NM_002447	NP_002438			1,1	RON_HUMAN	MST1R	HGNC	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)			1	1113	-			UPI000013E344	283			Extracellular (Potential).|Sema.		SNV	MST1R,synonymous_variant,p.=,ENST00000296474,NM_002447.2;MST1R,synonymous_variant,p.=,ENST00000344206,NM_001244937.1;CTD-2330K9.3,upstream_gene_variant,,ENST00000419183,;CTD-2330K9.2,intron_variant,,ENST00000435478,;CTD-2330K9.3,upstream_gene_variant,,ENST00000424174,;CTD-2330K9.3,upstream_gene_variant,,ENST00000412015,;MST1R,synonymous_variant,p.=,ENST00000411578,;MST1R,non_coding_transcript_exon_variant,,ENST00000468525,;MST1R,non_coding_transcript_exon_variant,,ENST00000485044,;MST1R,non_coding_transcript_exon_variant,,ENST00000493535,;MST1R,non_coding_transcript_exon_variant,,ENST00000497001,;	uc003cxy.3	c.849T>C	877/4536	4	4			c.849T>C						3	SNP	c.(847-849)CTT>CTC	21	21			ovary(5)|lung(1)	6	Broad	macrophage stimulating 1 receptor precursor			49940194		0.622	ENSG00000164078	9709	g.chr3:49940194A>G	cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			205			205	332.331777	KEEP	70	43	-1	55	56	70	43	-1	332.332809	55	56	0.497382	1	0	0	0	0	0	0	1	0	--	--		0	G			MST1R_uc011bdd.1_Silent_p.L283L|MST1R_uc011bde.1_Silent_p.L283L|MST1R_uc011bdf.1_Silent_p.L283L|MST1R_uc011bdg.1_Silent_p.L283L	68	GBM-06-0747-TP	p.L283L	A	CAGTGGCGCTAAGCCGTGCCA	NM_002447	NP_002438	49940194	Q04912	RON_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	1	1113	-	G	G			Silent	283			Extracellular (Potential).|Sema.			
MST1R	0	broad.mit.edu	GRCh37	3	49940449	49940449	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-1597-01	TCGA-12-1597-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296474.3:c.594C>T	p.Tyr198=	p.Y198=	ENST00000296474	NM_002447.2	198	taC/taT	0			1			A	Y	uc003cxy.3	protein_coding	YES	CCDS2807.1			594/4203									ovary(5)|lung(1)	6	c.(592-594)TAC>TAT			Gene3D:2.130.10.10,Pfam_domain:PF01403,PIRSF_domain:PIRSF000617,PROSITE_profiles:PS51004,SMART_domains:SM00630,Superfamily_domains:SSF101912	macrophage stimulating 1 receptor precursor				ENSP00000296474		20-Jan	0.00014		0.00096			3.12E-05		0.000243	rs200307089,COSM3408759,COSM3408760	20-Jan	common_variant		ENST00000296474	Transcript			cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	ENSG00000164078	g.chr3:49940449G>A	7381			LOW								--	--	1																																		MST1R_uc011bdd.1_Silent_p.Y198Y|MST1R_uc011bde.1_Silent_p.Y198Y|MST1R_uc011bdf.1_Silent_p.Y198Y|MST1R_uc011bdg.1_Silent_p.Y198Y	0,1,1	1			p.Y198Y	NM_002447	NP_002438			0,1,1	RON_HUMAN	MST1R	HGNC	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)			1	858	-			UPI000013E344	198			Extracellular (Potential).|Sema.		SNV	MST1R,synonymous_variant,p.=,ENST00000296474,NM_002447.2;MST1R,synonymous_variant,p.=,ENST00000344206,NM_001244937.1;CTD-2330K9.3,upstream_gene_variant,,ENST00000419183,;CTD-2330K9.2,intron_variant,,ENST00000435478,;CTD-2330K9.3,upstream_gene_variant,,ENST00000424174,;CTD-2330K9.3,upstream_gene_variant,,ENST00000412015,;MST1R,synonymous_variant,p.=,ENST00000411578,;MST1R,non_coding_transcript_exon_variant,,ENST00000468525,;MST1R,non_coding_transcript_exon_variant,,ENST00000485044,;MST1R,non_coding_transcript_exon_variant,,ENST00000493535,;MST1R,non_coding_transcript_exon_variant,,ENST00000497001,;	uc003cxy.3	c.594C>T	622/4536	2	2			c.594C>T						3	SNP	c.(592-594)TAC>TAT	20	20			ovary(5)|lung(1)	6	Broad	macrophage stimulating 1 receptor precursor			49940449		0.632	ENSG00000164078	9709	g.chr3:49940449G>A	cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			205			205	58.623179	KEEP	12	8	-1	11	15	12	8	-1	58.670682	11	15	0.463415	1	0	0	0	0	0	0	1	0	--	--		0	A			MST1R_uc011bdd.1_Silent_p.Y198Y|MST1R_uc011bde.1_Silent_p.Y198Y|MST1R_uc011bdf.1_Silent_p.Y198Y|MST1R_uc011bdg.1_Silent_p.Y198Y	124	GBM-12-1597-TP	p.Y198Y	G	AGGATGCCACGTAGAAATAGG	NM_002447	NP_002438	49940449	Q04912	RON_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	1	858	-	A	A			Silent	198			Extracellular (Potential).|Sema.			
MST1R	0	broad.mit.edu	GRCh37	3	49939965	49939965	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01	TCGA-12-3649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296474.3:c.1078G>A	p.Val360Met	p.V360M	ENST00000296474	NM_002447.2	360	Gtg/Atg	0			1			T	V/M	uc003cxy.3	protein_coding	YES	CCDS2807.1			1078/4203									ovary(5)|lung(1)	6	c.(1078-1080)GTG>ATG			Gene3D:2.130.10.10,Pfam_domain:PF01403,PIRSF_domain:PIRSF000617,PROSITE_profiles:PS51004,SMART_domains:SM00630,Superfamily_domains:SSF101912	macrophage stimulating 1 receptor precursor				ENSP00000296474		20-Jan	4.12E-05		0.000346			1.50E-05			rs751907940,COSM2850813,COSM2850812	20-Jan	.		ENST00000296474	Transcript			cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	ENSG00000164078	g.chr3:49939965C>T	7381			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=RON_HUMAN&rb=58&re=507&var=V360M	getma.org/pdb.php?prot=RON_HUMAN&from=58&to=507&var=V360M	getma.org/?cm=var&var=hg19,3,49939965,C,T&fts=all	V360M	--	--	1																																		MST1R_uc011bdd.1_Missense_Mutation_p.V360M|MST1R_uc011bde.1_Missense_Mutation_p.V360M|MST1R_uc011bdf.1_Missense_Mutation_p.V360M|MST1R_uc011bdg.1_Missense_Mutation_p.V360M	0,1,1	1		benign(0.017)	p.V360M	NM_002447	NP_002438		tolerated(0.12)	0,1,1	RON_HUMAN	MST1R	HGNC	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)			1	1342	-			UPI000013E344	360			Extracellular (Potential).|Sema.		SNV	MST1R,missense_variant,p.Val360Met,ENST00000296474,NM_002447.2;MST1R,missense_variant,p.Val360Met,ENST00000344206,NM_001244937.1;CTD-2330K9.3,upstream_gene_variant,,ENST00000419183,;CTD-2330K9.2,intron_variant,,ENST00000435478,;CTD-2330K9.3,upstream_gene_variant,,ENST00000424174,;CTD-2330K9.3,upstream_gene_variant,,ENST00000412015,;MST1R,missense_variant,p.Val360Met,ENST00000411578,;MST1R,non_coding_transcript_exon_variant,,ENST00000468525,;MST1R,non_coding_transcript_exon_variant,,ENST00000485044,;MST1R,non_coding_transcript_exon_variant,,ENST00000493535,;MST1R,non_coding_transcript_exon_variant,,ENST00000497001,;	uc003cxy.3	c.1078G>A	1106/4536	1	1			c.1078G>A						3	SNP	c.(1078-1080)GTG>ATG	1	1			ovary(5)|lung(1)	6	Broad	macrophage stimulating 1 receptor precursor			49939965		0.587	ENSG00000164078	9709	g.chr3:49939965C>T	cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding		p.V360M(MFE319-Tumor)	205		p.V360M(MFE319-Tumor)	205	256.512969	KEEP	47	47	-1	74	83	47	47	-1	259.640526	74	83	0.376068	1	0	0	0	0	1	0	0	0	--	--		0	T			MST1R_uc011bdd.1_Missense_Mutation_p.V360M|MST1R_uc011bde.1_Missense_Mutation_p.V360M|MST1R_uc011bdf.1_Missense_Mutation_p.V360M|MST1R_uc011bdg.1_Missense_Mutation_p.V360M	125	GBM-12-3649-TP	p.V360M	C	TTGGGGCCCACGCCAGGACCA	NM_002447	NP_002438	49939965	Q04912	RON_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	1	1342	-	T	T			Missense_Mutation	360			Extracellular (Potential).|Sema.			
MST1R	0	broad.mit.edu	GRCh37	3	49940348	49940348	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-28-5209-01	TCGA-28-5209-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296474.3:c.695T>A	p.Phe232Tyr	p.F232Y	ENST00000296474	NM_002447.2	232	tTt/tAt	0			1			T	F/Y	uc003cxy.3	protein_coding	YES	CCDS2807.1			695/4203									ovary(5)|lung(1)	6	c.(694-696)TTT>TAT			Gene3D:2.130.10.10,Pfam_domain:PF01403,PIRSF_domain:PIRSF000617,PROSITE_profiles:PS51004,SMART_domains:SM00630,Superfamily_domains:SSF101912	macrophage stimulating 1 receptor precursor				ENSP00000296474		20-Jan									COSM3408757,COSM3408758	20-Jan	.		ENST00000296474	Transcript			cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	ENSG00000164078	g.chr3:49940348A>T	7381			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=RON_HUMAN&rb=58&re=507&var=F232Y	getma.org/pdb.php?prot=RON_HUMAN&from=58&to=507&var=F232Y	getma.org/?cm=var&var=hg19,3,49940348,A,T&fts=all	F232Y	--	--	1																																		MST1R_uc011bdd.1_Missense_Mutation_p.F232Y|MST1R_uc011bde.1_Missense_Mutation_p.F232Y|MST1R_uc011bdf.1_Missense_Mutation_p.F232Y|MST1R_uc011bdg.1_Missense_Mutation_p.F232Y	1,1	1		probably_damaging(0.962)	p.F232Y	NM_002447	NP_002438		deleterious(0)	1,1	RON_HUMAN	MST1R	HGNC	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)			1	959	-			UPI000013E344	232			Extracellular (Potential).|Sema.		SNV	MST1R,missense_variant,p.Phe232Tyr,ENST00000296474,NM_002447.2;MST1R,missense_variant,p.Phe232Tyr,ENST00000344206,NM_001244937.1;CTD-2330K9.3,upstream_gene_variant,,ENST00000419183,;CTD-2330K9.2,intron_variant,,ENST00000435478,;CTD-2330K9.3,upstream_gene_variant,,ENST00000424174,;CTD-2330K9.3,upstream_gene_variant,,ENST00000412015,;MST1R,missense_variant,p.Phe232Tyr,ENST00000411578,;MST1R,non_coding_transcript_exon_variant,,ENST00000468525,;MST1R,non_coding_transcript_exon_variant,,ENST00000485044,;MST1R,non_coding_transcript_exon_variant,,ENST00000493535,;MST1R,non_coding_transcript_exon_variant,,ENST00000497001,;	uc003cxy.3	c.695T>A	723/4536	1	1			c.695T>A						3	SNP	c.(694-696)TTT>TAT	2	2			ovary(5)|lung(1)	6	Broad	macrophage stimulating 1 receptor precursor			49940348		0.577	ENSG00000164078	9709	g.chr3:49940348A>T	cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			205			205	111.984941	KEEP	18	24	-1	17	33	18	24	-1	112.143738	17	33	0.454545	1	0	0	0	0	1	0	0	0	--	--		0	T			MST1R_uc011bdd.1_Missense_Mutation_p.F232Y|MST1R_uc011bde.1_Missense_Mutation_p.F232Y|MST1R_uc011bdf.1_Missense_Mutation_p.F232Y|MST1R_uc011bdg.1_Missense_Mutation_p.F232Y	218	GBM-28-5209-TP	p.F232Y	A	CAACGCCACAAAGCCCGGTGC	NM_002447	NP_002438	49940348	Q04912	RON_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	1	959	-	T	T			Missense_Mutation	232			Extracellular (Potential).|Sema.			
MST4			GRCh37	X	131207025	131207025	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000394334.2:c.1130C>T	p.Ala377Val	p.A377V	ENST00000394334	NM_016542.3	377	gCg/gTg	0																																																																																																																																																																																																																																												
MSX2	4488		GRCh37	5	174152030	174152030	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000239243.6:c.368C>T	p.Ser123Leu	p.S123L	ENST00000239243	NM_002449.4	123	tCg/tTg	0																																																																																																																																																																																																																																												
MT1E	0	broad.mit.edu	GRCh37	16	56660826	56660826	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306061.6:c.129G>A	p.Lys43=	p.K43=	ENST00000306061	NM_175617.3	43	aaG/aaA	0			1			A	K	uc002ejl.2	protein_coding	YES	CCDS10764.2			129/186										0	c.(127-129)AAG>AAA			Gene3D:4mt2A00,Pfam_domain:PF00131,Prints_domain:PR00860,hmmpanther:PTHR23299,Low_complexity_(Seg):seg,Superfamily_domains:SSF57868	metallothionein 1E				ENSP00000307706		3-Mar	8.24E-06							6.06E-05	rs777849364,COSM3402374	3-Mar	.		ENST00000306061	Transcript				cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding	ENSG00000169715	g.chr16:56660826G>A	7397			LOW								--	--	1																																		MT1A_uc002eji.2_Intron|MT1M_uc010vhe.1_Intron|MT1E_uc002ejm.2_3'UTR	0,1	1			p.K43K	NM_175617	NP_783316			0,1	MT1E_HUMAN	MT1E	HGNC	P04732	MT1E_HUMAN					3	308	+			UPI000012F6D6	43			Alpha.		SNV	MT1E,synonymous_variant,p.=,ENST00000306061,NM_175617.3;MT1E,synonymous_variant,p.=,ENST00000568293,;MT1E,3_prime_UTR_variant,,ENST00000330439,;AC026461.1,downstream_gene_variant,,ENST00000600389,;	uc002ejl.2	c.129G>A	506/704	1	1			c.129G>A						16	SNP	c.(127-129)AAG>AAA	60	60				0	Broad	metallothionein 1E			56660826		0.597	ENSG00000169715	9717	g.chr16:56660826G>A		cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding							-35.053181	KEEP	1	3	-1	96	93	1	3	-1	6.446653	96	93	0.024242	1	0	0	0	0	0	0	1	0	--	--		0	A			MT1A_uc002eji.2_Intron|MT1M_uc010vhe.1_Intron|MT1E_uc002ejm.2_3'UTR	232	GBM-32-1982-TP	p.K43K	G	GCTGTGCCAAGTGTGCCCAGG	NM_175617	NP_783316	56660826	P04732	MT1E_HUMAN	0			3	308	+	A	A			Silent	43			Alpha.			
MTA1	0	broad.mit.edu	GRCh37	14	105936268	105936268	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6698-01	TCGA-06-6698-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331320.7:c.1936C>T	p.Arg646Trp	p.R646W	ENST00000331320	NM_004689.3	646	Cgg/Tgg	0			1			T	R/W	uc001yqx.2	protein_coding	YES	CCDS32169.1			1936/2148									breast(1)|central_nervous_system(1)	2	c.(1936-1938)CGG>TGG			hmmpanther:PTHR10865,hmmpanther:PTHR10865:SF5	metastasis associated protein				ENSP00000333633		20/21	8.29E-06			0.000126					rs782259901,COSM3401176,COSM3401177	20/21	.		ENST00000331320	Transcript			signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000182979	g.chr14:105936268C>T	7410			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=MTA1_HUMAN&rb=631&re=715&var=R646W	NA	getma.org/?cm=var&var=hg19,14,105936268,C,T&fts=all	R646W	--	--	1																																		MTA1_uc001yqy.2_RNA|MTA1_uc001yrb.2_Missense_Mutation_p.R411W	0,1,1	1		probably_damaging(0.993)	p.R646W	NM_004689	NP_004680		deleterious(0)	0,1,1	MTA1_HUMAN	MTA1	HGNC	Q13330	MTA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)	Q86TR6_HUMAN,F8VSM3_HUMAN,F8VPC5_HUMAN		20	2123	+		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	UPI00003669FD	646					SNV	MTA1,missense_variant,p.Arg646Trp,ENST00000331320,NM_004689.3,NM_001203258.1;MTA1,missense_variant,p.Arg634Trp,ENST00000406191,;MTA1,missense_variant,p.Arg629Trp,ENST00000405646,;MTA1,missense_variant,p.Arg442Trp,ENST00000434050,;MTA1,missense_variant,p.Arg186Trp,ENST00000435036,;MTA1,missense_variant,p.Arg58Trp,ENST00000426567,;MTA1,missense_variant,p.Arg73Trp,ENST00000494981,;CRIP2,upstream_gene_variant,,ENST00000329146,NM_001312.3;CRIP2,upstream_gene_variant,,ENST00000483017,NM_001270837.1;CRIP2,upstream_gene_variant,,ENST00000538259,;CRIP2,upstream_gene_variant,,ENST00000550577,NM_001270841.1;RP11-521B24.5,intron_variant,,ENST00000552675,;MTA1,3_prime_UTR_variant,,ENST00000438610,;MTA1,non_coding_transcript_exon_variant,,ENST00000552286,;MTA1,non_coding_transcript_exon_variant,,ENST00000481206,;MTA1,non_coding_transcript_exon_variant,,ENST00000481635,;MTA1,downstream_gene_variant,,ENST00000469140,;CRIP2,upstream_gene_variant,,ENST00000552643,;CRIP2,upstream_gene_variant,,ENST00000547643,;MTA1,downstream_gene_variant,,ENST00000490198,;CRIP2,upstream_gene_variant,,ENST00000551836,;	uc001yqx.2	c.1936C>T	2150/2876	1	1			c.1936C>T						14	SNP	c.(1936-1938)CGG>TGG	11	11			breast(1)|central_nervous_system(1)	2	Broad	metastasis associated protein			105936268		0.677	ENSG00000182979	9726	g.chr14:105936268C>T	signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							11.768687	KEEP	0	5	-1	9	5	0	5	-1	12.567797	9	5	0.277778	1	0	0	0	0	1	0	0	0	--	--		0	T			MTA1_uc001yqy.2_RNA|MTA1_uc001yrb.2_Missense_Mutation_p.R411W	112	GBM-06-6698-TP	p.R646W	C	AGTCAAGCGGCGGCGGATGAA	NM_004689	NP_004680	105936268	Q13330	MTA1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)	20	2123	+	T	T		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	Missense_Mutation	646						
MTA2	0	broad.mit.edu	GRCh37	11	62364206	62364206	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278823.2:c.785G>A	p.Arg262Gln	p.R262Q	ENST00000278823	NM_004739.3	262	cGg/cAg	0			1			T	R/Q	uc001ntq.1	protein_coding	YES	CCDS8022.1			785/2007									ovary(1)|skin(1)	2	c.(784-786)CGG>CAG			hmmpanther:PTHR10865:SF4,hmmpanther:PTHR10865	metastasis-associated protein 2				ENSP00000278823		18-Sep									COSM2157502	18-Sep	.		ENST00000278823	Transcript			chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000149480	g.chr11:62364206C>T	7411			MODERATE		2.19	medium	getma.org/?cm=msa&ty=f&p=MTA2_HUMAN&rb=202&re=366&var=R262Q	NA	getma.org/?cm=var&var=hg19,11,62364206,C,T&fts=all	R262Q	--	--	1																																		MTA2_uc010rlx.1_Missense_Mutation_p.R89Q	1	1		benign(0.01)	p.R262Q	NM_004739	NP_004730		deleterious(0)	1	MTA2_HUMAN	MTA2	HGNC	O94776	MTA2_HUMAN			Q68DB1_HUMAN		9	1166	-			UPI000012F743	262					SNV	MTA2,missense_variant,p.Arg262Gln,ENST00000278823,NM_004739.3;MTA2,missense_variant,p.Arg89Gln,ENST00000524902,;MTA2,missense_variant,p.Arg89Gln,ENST00000527204,;TUT1,upstream_gene_variant,,ENST00000476907,;MTA2,downstream_gene_variant,,ENST00000526844,;MTA2,upstream_gene_variant,,ENST00000531179,;MTA2,downstream_gene_variant,,ENST00000531261,;MTA2,downstream_gene_variant,,ENST00000532239,;	uc001ntq.1	c.785G>A	1175/3058	1	1			c.785G>A						11	SNP	c.(784-786)CGG>CAG	2	2			ovary(1)|skin(1)	2	Broad	metastasis-associated protein 2			62364206		0.542	ENSG00000149480	9727	g.chr11:62364206C>T	chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							239.012247	KEEP	36	44	-1	47	56	36	44	-1	239.475834	47	56	0.443787	1	0	0	0	0	1	0	0	0	--	--		0	T			MTA2_uc010rlx.1_Missense_Mutation_p.R89Q	265	GBM-76-4925-TP	p.R262Q	C	CATCTCATCCCGACACAGCAC	NM_004739	NP_004730	62364206	O94776	MTA2_HUMAN	0			9	1166	-	T	T			Missense_Mutation	262						
MTA3	57504	broad.mit.edu	GRCh37	2	42883411	42883411	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0168-01	TCGA-06-0168-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000407270.3:c.571C>T	p.Arg191Ter	p.R191*	ENST00000407270	NM_020744.2	191	Cga/Tga	0			1			T	R/*	uc002rso.1	protein_coding					571/1785									ovary(2)	2	c.(403-405)CGA>TGA			Pfam_domain:PF01448,PROSITE_profiles:PS51156,hmmpanther:PTHR10865,hmmpanther:PTHR10865:SF6	metastasis associated 1 family, member 3				ENSP00000385823		17-Jul									COSM2150241	17-Jul	.		ENST00000405094	Transcript				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000057935	g.chr2:42883411C>T	23784			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,42883411,C,T&fts=all	R191*	--	--	1																																		MTA3_uc002rsp.1_Nonsense_Mutation_p.R135*|MTA3_uc002rsq.2_Nonsense_Mutation_p.R191*|MTA3_uc002rsr.2_Nonsense_Mutation_p.R191*	1				p.R135*	NM_020744	NP_065795			1	MTA3_HUMAN	MTA3	HGNC	Q9BTC8	MTA3_HUMAN			Q53SC0_HUMAN,Q53RX8_HUMAN		8	1073	+			UPI000012F745	191			ELM2.		SNV	MTA3,stop_gained,p.Arg135Ter,ENST00000405592,NM_001282755.1;MTA3,stop_gained,p.Arg135Ter,ENST00000406652,NM_001282756.1;MTA3,stop_gained,p.Arg191Ter,ENST00000407270,NM_020744.2;MTA3,stop_gained,p.Arg191Ter,ENST00000406911,;MTA3,stop_gained,p.Arg191Ter,ENST00000405094,;MTA3,non_coding_transcript_exon_variant,,ENST00000484780,;MTA3,non_coding_transcript_exon_variant,,ENST00000461256,;MTA3,downstream_gene_variant,,ENST00000493983,;MTA3,stop_gained,p.Arg191Ter,ENST00000409019,;MTA3,stop_gained,p.Arg191Ter,ENST00000454356,;MTA3,3_prime_UTR_variant,,ENST00000430763,;MTA3,upstream_gene_variant,,ENST00000490611,;	uc002rso.1	c.403C>T	571/1785	5	2			c.403C>T						2	SNP	c.(403-405)CGA>TGA	29	29			ovary(2)	2	Broad	metastasis associated 1 family, member 3			42883411		0.328	ENSG00000057935	9728	g.chr2:42883411C>T		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							104.926657	KEEP	21	23	-1	30	44	21	23	-1	106.724377	30	44	0.354167	1	0	0	0	0	0	1	0	0	--	--		0	T			MTA3_uc002rsp.1_Nonsense_Mutation_p.R135*|MTA3_uc002rsq.2_Nonsense_Mutation_p.R191*|MTA3_uc002rsr.2_Nonsense_Mutation_p.R191*	33	GBM-06-0168-TP	p.R135*	C	ACTTACGGATCGACAGATTGA	NM_020744	NP_065795	42883411	Q9BTC8	MTA3_HUMAN	0			8	1073	+	T	T			Nonsense_Mutation	191			ELM2.			
MTDH	92140	broad.mit.edu	GRCh37	8	98735243	98735243	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-2564-01	TCGA-06-2564-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336273.3:c.1658A>G	p.Asn553Ser	p.N553S	ENST00000336273	NM_178812.3	553	aAt/aGt	0			1			G	N/S	uc003yhz.2	protein_coding	YES	CCDS6274.1			1658/1749									liver(1)|central_nervous_system(1)	2	c.(1657-1659)AAT>AGT			hmmpanther:PTHR23251:SF0,hmmpanther:PTHR23251	metadherin				ENSP00000338235		12-Nov									COSM2152945	12-Nov	.		ENST00000336273	Transcript			lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	ENSG00000147649	g.chr8:98735243A>G	29608			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=LYRIC_HUMAN&rb=1&re=580&var=N553S	NA	getma.org/?cm=var&var=hg19,8,98735243,A,G&fts=all	N553S	--	--	1																																		MTDH_uc010mbf.2_RNA	1	1		probably_damaging(0.997)	p.N553S	NM_178812	NP_848927		deleterious(0)	1	LYRIC_HUMAN	MTDH	HGNC	Q86UE4	LYRIC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.178)				11	1986	+	Breast(36;2.56e-06)		UPI0000061E17	553			Cytoplasmic (Potential).		SNV	MTDH,missense_variant,p.Asn553Ser,ENST00000336273,NM_178812.3;MTDH,missense_variant,p.Asn497Ser,ENST00000519934,;MTDH,missense_variant,p.Asn176Ser,ENST00000521933,;MTDH,3_prime_UTR_variant,,ENST00000519293,;MTDH,downstream_gene_variant,,ENST00000522104,;	uc003yhz.2	c.1658A>G	1986/6177	3	3			c.1658A>G						8	SNP	c.(1657-1659)AAT>AGT	62	62			liver(1)|central_nervous_system(1)	2	Broad	metadherin			98735243		0.363	ENSG00000147649	9735	g.chr8:98735243A>G	lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity							241.827065	KEEP	27	53	-1	72	88	27	53	-1	246.651429	72	88	0.339623	1	0	0	0	0	1	0	0	0	--	--		0	G			MTDH_uc010mbf.2_RNA	87	GBM-06-2564-TP	p.N553S	A	ACCAAGCAAAATAGTGTGCCT	NM_178812	NP_848927	98735243	Q86UE4	LYRIC_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;0.178)		11	1986	+	G	G	Breast(36;2.56e-06)		Missense_Mutation	553			Cytoplasmic (Potential).			
MTDH	92140		GRCh37	8	98731338	98731338	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000336273.3:c.1442G>A	p.Arg481His	p.R481H	ENST00000336273	NM_178812.3	481	cGt/cAt	0																																																																																																																																																																																																																																												
MTERF	0	broad.mit.edu	GRCh37	7	91503564	91503564	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-5408-01	TCGA-06-5408-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000351870.3:c.544T>C	p.Phe182Leu	p.F182L	ENST00000351870	NM_006980.3	182	Ttc/Ctc	0			1			G	F/L	uc003ulb.1	protein_coding	YES	CCDS5621.1			544/1200										0	c.(544-546)TTC>CTC			Pfam_domain:PF02536,hmmpanther:PTHR15437,hmmpanther:PTHR15437:SF2,SMART_domains:SM00733	mitochondrial transcription termination factor				ENSP00000248643		3-Mar									COSM3412466	3-Mar	.		ENST00000351870	Transcript			DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding	ENSG00000127989	g.chr7:91503564A>G	21463			MODERATE		2.135	medium	getma.org/?cm=msa&ty=f&p=MTERF_HUMAN&rb=73&re=396&var=F182L	getma.org/pdb.php?prot=MTERF_HUMAN&from=73&to=396&var=F182L	getma.org/?cm=var&var=hg19,7,91503564,A,G&fts=all	F182L	--	--	1																																		MTERF_uc010let.1_Intron|MTERF_uc003ulc.1_Missense_Mutation_p.F182L|MTERF_uc011khm.1_Missense_Mutation_p.F162L|MTERF_uc010leu.1_Missense_Mutation_p.F162L	1	1		benign(0.095)	p.F182L	NM_006980	NP_008911		deleterious(0.05)	1	MTERF_HUMAN	MTERF	HGNC	Q99551	MTERF_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)		C9JU79_HUMAN,C9JNM8_HUMAN,C9JE25_HUMAN,B4DPR9_HUMAN		2	588	-	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		UPI000004A0C8	182					SNV	MTERF,missense_variant,p.Phe162Leu,ENST00000419292,;MTERF,missense_variant,p.Phe182Leu,ENST00000351870,NM_006980.3;MTERF,missense_variant,p.Phe162Leu,ENST00000406735,;MTERF,downstream_gene_variant,,ENST00000425936,;MTERF,downstream_gene_variant,,ENST00000456229,;MTERF,downstream_gene_variant,,ENST00000442961,;MTERF,intron_variant,,ENST00000454222,;MTERF,downstream_gene_variant,,ENST00000481516,;	uc003ulb.1	c.544T>C	638/1997	3	3			c.544T>C						7	SNP	c.(544-546)TTC>CTC	4	4				0	Broad	mitochondrial transcription termination factor			91503564		0.378	ENSG00000127989	9736	g.chr7:91503564A>G	DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding							286.686461	KEEP	46	49	-1	56	61	46	49	-1	287.152646	56	61	0.447368	1	0	0	0	0	1	0	0	0	--	--		0	G			MTERF_uc010let.1_Intron|MTERF_uc003ulc.1_Missense_Mutation_p.F182L|MTERF_uc011khm.1_Missense_Mutation_p.F162L|MTERF_uc010leu.1_Missense_Mutation_p.F162L	92	GBM-06-5408-TP	p.F182L	A	GAGTAGAGGAACTTTATATTA	NM_006980	NP_008911	91503564	Q99551	MTERF_HUMAN	0	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)		2	588	-	G	G	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		Missense_Mutation	182						
MTERF	0	broad.mit.edu	GRCh37	7	91503603	91503603	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs148973867		TCGA-27-2521-01	TCGA-27-2521-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000351870.3:c.505C>T	p.Arg169Trp	p.R169W	ENST00000351870	NM_006980.3	169	Cgg/Tgg	0			1			A	R/W	uc003ulb.1	protein_coding	YES	CCDS5621.1			505/1200										0	c.(505-507)CGG>TGG			Pfam_domain:PF02536,hmmpanther:PTHR15437,hmmpanther:PTHR15437:SF2,SMART_domains:SM00733	mitochondrial transcription termination factor				ENSP00000248643		3-Mar	0.000124				0.000454	0.00015	0.0022		rs745950270,COSM3412467	3-Mar	common_variant		ENST00000351870	Transcript			DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding	ENSG00000127989	g.chr7:91503603G>A	21463			MODERATE		2.095	medium	getma.org/?cm=msa&ty=f&p=MTERF_HUMAN&rb=73&re=396&var=R169W	getma.org/pdb.php?prot=MTERF_HUMAN&from=73&to=396&var=R169W	getma.org/?cm=var&var=hg19,7,91503603,G,A&fts=all	R169W	--	--	1																																		MTERF_uc010let.1_Intron|MTERF_uc003ulc.1_Missense_Mutation_p.R169W|MTERF_uc011khm.1_Missense_Mutation_p.R149W|MTERF_uc010leu.1_Missense_Mutation_p.R149W	0,1	1		probably_damaging(0.998)	p.R169W	NM_006980	NP_008911		deleterious(0)	0,1	MTERF_HUMAN	MTERF	HGNC	Q99551	MTERF_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)		C9JU79_HUMAN,C9JNM8_HUMAN,C9JE25_HUMAN,B4DPR9_HUMAN		2	549	-	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		UPI000004A0C8	169	R->A: Strongly reduces affinity for DNA. Strongly reduces transcription termination.		Interaction with DNA.		SNV	MTERF,missense_variant,p.Arg149Trp,ENST00000419292,;MTERF,missense_variant,p.Arg169Trp,ENST00000351870,NM_006980.3;MTERF,missense_variant,p.Arg149Trp,ENST00000406735,;MTERF,downstream_gene_variant,,ENST00000425936,;MTERF,downstream_gene_variant,,ENST00000456229,;MTERF,downstream_gene_variant,,ENST00000442961,;MTERF,intron_variant,,ENST00000454222,;MTERF,downstream_gene_variant,,ENST00000481516,;	uc003ulb.1	c.505C>T	599/1997	2	2			c.505C>T						7	SNP	c.(505-507)CGG>TGG	47	47				0	Broad	mitochondrial transcription termination factor			91503603		0.398	ENSG00000127989	9736	g.chr7:91503603G>A	DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding							-54.138457	KEEP	2	3	-1	116	131	2	3	-1	8.998041	116	131	0.020408	1	0	0	0	0	1	0	0	0	--	--		0	A			MTERF_uc010let.1_Intron|MTERF_uc003ulc.1_Missense_Mutation_p.R169W|MTERF_uc011khm.1_Missense_Mutation_p.R149W|MTERF_uc010leu.1_Missense_Mutation_p.R149W	200	GBM-27-2521-TP	p.R169W	G	TTATTGGACCGAAAAAAGGAT	NM_006980	NP_008911	91503603	Q99551	MTERF_HUMAN	0	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)		2	549	-	A	A	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		Missense_Mutation	169	R->A: Strongly reduces affinity for DNA. Strongly reduces transcription termination.		Interaction with DNA.			
MTERFD3	0	broad.mit.edu	GRCh37	12	107371855	107371855	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-02-0003-01	TCGA-02-0003-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000552029.1:c.638T>C	p.Leu213Ser	p.L213S	ENST00000552029		213	tTa/tCa	0			1			G	L/S	uc001tme.1	protein_coding		CCDS9111.1			638/1158										0	c.(637-639)TTA>TCA			Pfam_domain:PF02536,hmmpanther:PTHR15437,hmmpanther:PTHR15437:SF1,SMART_domains:SM00733	transcription termination factor-like protein				ENSP00000240050		3-Mar									COSM2148901	3-Mar	.		ENST00000240050	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding	ENSG00000120832	g.chr12:107371855A>G	30779			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=MTER3_HUMAN&rb=48&re=345&var=L213S	getma.org/pdb.php?prot=MTER3_HUMAN&from=48&to=345&var=L213S	getma.org/?cm=var&var=hg19,12,107371855,A,G&fts=all	L213S	--	--	1																																		MTERFD3_uc001tmf.1_Missense_Mutation_p.L213S|MTERFD3_uc001tmg.1_Missense_Mutation_p.L213S|MTERFD3_uc001tmh.1_Missense_Mutation_p.L213S	1			probably_damaging(1)	p.L213S	NM_025198	NP_079474		deleterious(0)	1	MTER3_HUMAN	MTERFD3	HGNC	Q49AM1	MTER3_HUMAN			F8VXH5_HUMAN,F8VSL4_HUMAN,F8VSD8_HUMAN		2	2457	-			UPI000006E7A4	213					SNV	MTERFD3,missense_variant,p.Leu213Ser,ENST00000552029,;MTERFD3,missense_variant,p.Leu213Ser,ENST00000240050,NM_001033050.2;MTERFD3,missense_variant,p.Leu213Ser,ENST00000392830,NM_025198.4;C12orf23,downstream_gene_variant,,ENST00000280756,NM_152261.2;C12orf23,downstream_gene_variant,,ENST00000548125,;MTERFD3,downstream_gene_variant,,ENST00000548101,;MTERFD3,downstream_gene_variant,,ENST00000550736,;MTERFD3,downstream_gene_variant,,ENST00000550496,;C12orf23,intron_variant,,ENST00000551237,;C12orf23,intron_variant,,ENST00000548806,;	uc001tme.1	c.638T>C	1004/1790	3	3			c.638T>C						12	SNP	c.(637-639)TTA>TCA	4	4				0	Broad	transcription termination factor-like protein			107371855		0.383	ENSG00000120832	9739	g.chr12:107371855A>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding							156.931756	KEEP	29	28	-1	43	34	29	28	-1	157.658096	43	34	0.416667	1	0	0	0	0	1	0	0	0	--	--		0	G			MTERFD3_uc001tmf.1_Missense_Mutation_p.L213S|MTERFD3_uc001tmg.1_Missense_Mutation_p.L213S|MTERFD3_uc001tmh.1_Missense_Mutation_p.L213S	1	GBM-02-0003-TP	p.L213S	A	GTTTTGGCTTAACAATTTTAG	NM_025198	NP_079474	107371855	Q49AM1	MTER3_HUMAN	0			2	2457	-	G	G			Missense_Mutation	213						
MTERFD3	0	broad.mit.edu	GRCh37	12	107372183	107372183	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-1442-01	TCGA-26-1442-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000240050.4:c.310G>A	p.Ala104Thr	p.A104T	ENST00000240050	NM_001033050.2	104	Gca/Aca	0			1			T	A/T	uc001tme.1	protein_coding		CCDS9111.1			310/1158										0	c.(310-312)GCA>ACA			Pfam_domain:PF02536,Pfam_domain:PF02536,hmmpanther:PTHR15437,hmmpanther:PTHR15437:SF1	transcription termination factor-like protein				ENSP00000240050		3-Mar									COSM3398296	3-Mar	.		ENST00000240050	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding	ENSG00000120832	g.chr12:107372183C>T	30779			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=MTER3_HUMAN&rb=48&re=345&var=A104T	getma.org/pdb.php?prot=MTER3_HUMAN&from=48&to=345&var=A104T	getma.org/?cm=var&var=hg19,12,107372183,C,T&fts=all	A104T	--	--	1																																		MTERFD3_uc001tmf.1_Missense_Mutation_p.A104T|MTERFD3_uc001tmg.1_Missense_Mutation_p.A104T|MTERFD3_uc001tmh.1_Missense_Mutation_p.A104T	1			probably_damaging(0.972)	p.A104T	NM_025198	NP_079474		deleterious(0.01)	1	MTER3_HUMAN	MTERFD3	HGNC	Q49AM1	MTER3_HUMAN			F8VXH5_HUMAN,F8VSL4_HUMAN,F8VSD8_HUMAN		2	2129	-			UPI000006E7A4	104					SNV	MTERFD3,missense_variant,p.Ala104Thr,ENST00000552029,;MTERFD3,missense_variant,p.Ala104Thr,ENST00000240050,NM_001033050.2;MTERFD3,missense_variant,p.Ala104Thr,ENST00000392830,NM_025198.4;MTERFD3,missense_variant,p.Ala104Thr,ENST00000548101,;C12orf23,downstream_gene_variant,,ENST00000280756,NM_152261.2;C12orf23,downstream_gene_variant,,ENST00000548125,;MTERFD3,downstream_gene_variant,,ENST00000550736,;MTERFD3,downstream_gene_variant,,ENST00000550496,;C12orf23,non_coding_transcript_exon_variant,,ENST00000551237,;C12orf23,non_coding_transcript_exon_variant,,ENST00000548806,;	uc001tme.1	c.310G>A	676/1790	2	2			c.310G>A						12	SNP	c.(310-312)GCA>ACA	17	17				0	Broad	transcription termination factor-like protein			107372183		0.423	ENSG00000120832	9739	g.chr12:107372183C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding							16.79965	KEEP	4	9	-1	48	54	4	9	-1	29.416381	48	54	0.134021	1	0	0	0	0	1	0	0	0	--	--		0	T			MTERFD3_uc001tmf.1_Missense_Mutation_p.A104T|MTERFD3_uc001tmg.1_Missense_Mutation_p.A104T|MTERFD3_uc001tmh.1_Missense_Mutation_p.A104T	180	GBM-26-1442-TP	p.A104T	C	CAGACAATTGCTTCCGGGCAG	NM_025198	NP_079474	107372183	Q49AM1	MTER3_HUMAN	0			2	2129	-	T	T			Missense_Mutation	104						
MTERFD3			GRCh37	12	107371558	107371559	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	AT			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000552029.1:c.934_935insAT	p.Ser312TyrfsTer3	p.S312Yfs*3	ENST00000552029		312	tcc/tATcc	0																																																																																																																																																																																																																																												
MTF1	4520	broad.mit.edu	GRCh37	1	38305766	38305766	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01	TCGA-06-6391-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373036.4:c.473G>A	p.Arg158Gln	p.R158Q	ENST00000373036	NM_005955.2	158	cGa/cAa	0			1			T	R/Q	uc001cce.1	protein_coding	YES	CCDS30676.1			473/2262									ovary(1)|pancreas(1)	2	c.(472-474)CGA>CAA			Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF347,SMART_domains:SM00355,Superfamily_domains:SSF57667	metal-regulatory transcription factor 1				ENSP00000362127		11-Mar	8.24E-06					1.50E-05			rs774690246	11-Mar	.		ENST00000373036	Transcript				nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	ENSG00000188786	g.chr1:38305766C>T	7428			MODERATE		0.435	neutral	getma.org/?cm=msa&ty=f&p=MTF1_HUMAN&rb=120&re=184&var=R158Q	getma.org/pdb.php?prot=MTF1_HUMAN&from=140&to=164&var=R158Q	getma.org/?cm=var&var=hg19,1,38305766,C,T&fts=all	R158Q	--	--	1																																		MTF1_uc009vvj.1_5'UTR		1		probably_damaging(0.993)	p.R158Q	NM_005955	NP_005946		deleterious(0)		MTF1_HUMAN	MTF1	HGNC	Q14872	MTF1_HUMAN			O14945_HUMAN		3	614	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	UPI000006E9B3	158			C2H2-type 1.		SNV	MTF1,missense_variant,p.Arg158Gln,ENST00000373036,NM_005955.2;RP11-109P14.8,upstream_gene_variant,,ENST00000447422,;	uc001cce.1	c.473G>A	614/7972	1	1			c.473G>A						1	SNP	c.(472-474)CGA>CAA	7	7			ovary(1)|pancreas(1)	2	Broad	metal-regulatory transcription factor 1			38305766		0.527	ENSG00000188786	9740	g.chr1:38305766C>T		nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding							23.507712	KEEP	6	12	-1	61	64	6	12	-1	41.57936	61	64	0.123077	1	0	0	0	0	1	0	0	0	--	--		0	T			MTF1_uc009vvj.1_5'UTR	107	GBM-06-6391-TP	p.R158Q	C	CTGGTGGGTTCGCAGGTTGCC	NM_005955	NP_005946	38305766	Q14872	MTF1_HUMAN	0			3	614	-	T	T	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	Missense_Mutation	158			C2H2-type 1.			
MTFR1L	56181	broad.mit.edu	GRCh37	1	26156090	26156090	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01	TCGA-06-0188-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374301.3:c.542C>T	p.Thr181Ile	p.T181I	ENST00000374301	NM_019557.5	181	aCa/aTa	0			1			T	T/I	uc001bkq.3	protein_coding		CCDS41284.1			542/879									pancreas(1)	1	c.(541-543)ACA>ATA			hmmpanther:PTHR14215,hmmpanther:PTHR14215:SF3,Pfam_domain:PF05308	hypothetical protein LOC56181 isoform a				ENSP00000363418		7-Jun									COSM2150609	7-Jun	.		ENST00000374300	Transcript						ENSG00000117640	g.chr1:26156090C>T	28836			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=FA54B_HUMAN&rb=8&re=255&var=T181I	NA	getma.org/?cm=var&var=hg19,1,26156090,C,T&fts=all	T181I	--	--	1																																		FAM54B_uc001bkr.3_Intron|FAM54B_uc010oet.1_Missense_Mutation_p.T214I|FAM54B_uc009vrz.2_Missense_Mutation_p.T166I|FAM54B_uc001bks.3_Missense_Mutation_p.T181I|FAM54B_uc001bkt.3_Missense_Mutation_p.T181I|FAM54B_uc001bku.3_Intron|FAM54B_uc001bkv.3_Missense_Mutation_p.T84I	1			benign(0.42)	p.T181I	NM_001099625	NP_001093095		tolerated(0.07)	1	MFR1L_HUMAN	MTFR1L	HGNC	Q9H019	FA54B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.96e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.00095)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0649)	E9PSD6_HUMAN,E9PRW1_HUMAN,E9PPQ0_HUMAN,E9PPF9_HUMAN,E9PLU1_HUMAN,E9PLD2_HUMAN,C9JF50_HUMAN		6	752	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	UPI000006D344	181					SNV	MTFR1L,missense_variant,p.Thr181Ile,ENST00000374301,NM_019557.5;MTFR1L,missense_variant,p.Thr181Ile,ENST00000374300,NM_001099626.1;MTFR1L,missense_variant,p.Thr181Ile,ENST00000374303,NM_001099625.1;MTFR1L,missense_variant,p.Thr169Ile,ENST00000374307,;MTFR1L,missense_variant,p.Thr84Ile,ENST00000524618,;MTFR1L,missense_variant,p.Thr84Ile,ENST00000472643,;MTFR1L,intron_variant,,ENST00000466284,;MTFR1L,intron_variant,,ENST00000474295,NM_001099627.1;MTFR1L,intron_variant,,ENST00000526894,;AUNIP,downstream_gene_variant,,ENST00000374298,NM_024037.1;AUNIP,downstream_gene_variant,,ENST00000538789,NM_001287490.1;MTFR1L,downstream_gene_variant,,ENST00000526158,;MTFR1L,downstream_gene_variant,,ENST00000424294,;MTFR1L,downstream_gene_variant,,ENST00000533762,;MTFR1L,downstream_gene_variant,,ENST00000525713,;MTFR1L,downstream_gene_variant,,ENST00000529116,;MTFR1L,downstream_gene_variant,,ENST00000488327,;RP1-317E23.7,downstream_gene_variant,,ENST00000606617,;MTFR1L,non_coding_transcript_exon_variant,,ENST00000469815,;MTFR1L,non_coding_transcript_exon_variant,,ENST00000531361,;AUNIP,downstream_gene_variant,,ENST00000481602,;MTFR1L,3_prime_UTR_variant,,ENST00000464008,;MTFR1L,3_prime_UTR_variant,,ENST00000478284,;MTFR1L,non_coding_transcript_exon_variant,,ENST00000497956,;MTFR1L,downstream_gene_variant,,ENST00000530599,;MTFR1L,downstream_gene_variant,,ENST00000528624,;	uc001bkq.3	c.542C>T	804/2053	1	1			c.542C>T						1	SNP	c.(541-543)ACA>ATA	2	2			pancreas(1)	1	Broad	hypothetical protein LOC56181 isoform a			26156090		0.478	ENSG00000117640	5488	g.chr1:26156090C>T										317.15428	KEEP	74	54	-1	120	117	74	54	-1	324.226041	120	117	0.346154	1	0	0	0	0	1	0	0	0	--	--		0	T			FAM54B_uc001bkr.3_Intron|FAM54B_uc010oet.1_Missense_Mutation_p.T214I|FAM54B_uc009vrz.2_Missense_Mutation_p.T166I|FAM54B_uc001bks.3_Missense_Mutation_p.T181I|FAM54B_uc001bkt.3_Missense_Mutation_p.T181I|FAM54B_uc001bku.3_Intron|FAM54B_uc001bkv.3_Missense_Mutation_p.T84I	41	GBM-06-0188-TP	p.T181I	C	TTCCACTCTACAACTTCCTTT	NM_001099625	NP_001093095	26156090	Q9H019	FA54B_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.96e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.00095)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0649)	6	752	+	T	T		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	Missense_Mutation	181						
MTHFD1	4522		GRCh37	14	64882182	64882182	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000216605.8:c.347A>G	p.Asn116Ser	p.N116S	ENST00000216605	NM_005956.3	116	aAt/aGt	0																																																																																																																																																																																																																																												
MTHFD1L	0	broad.mit.edu	GRCh37	6	151281413	151281413	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs146093887	by1000genomes	TCGA-26-5134-01	TCGA-26-5134-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367321.3:c.1806G>A	p.Ala602=	p.A602=	ENST00000367321	NM_001242768.1	602	gcG/gcA	0	A:0	A:0	1	A:0		A	A	uc003qob.2	protein_coding	YES	CCDS5228.1			1806/2937									ovary(3)|large_intestine(1)	4	c.(1804-1806)GCG>GCA			HAMAP:MF_01543,hmmpanther:PTHR10025,hmmpanther:PTHR10025:SF14,Pfam_domain:PF01268,Gene3D:3do6A02,Superfamily_domains:SSF52540	methylenetetrahydrofolate dehydrogenase (NADP+		A:0	A:0.0001	ENSP00000356290	A:0.001	18/28	1.65E-05					3.04E-05			rs146093887,COSM2156977	18/28	.		ENST00000367321	Transcript		A:0.0002	folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	ENSG00000120254	g.chr6:151281413G>A	21055			LOW								--	--	1																																		MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Silent_p.A603A|MTHFD1L_uc003qoc.2_Silent_p.A550A	0,1	1			p.A602A	NM_015440	NP_056255	A:0		0,1	C1TM_HUMAN	MTHFD1L	HGNC	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	Q5JYA8_HUMAN,Q5JYA3_HUMAN,B7ZM99_HUMAN,B2RD24_HUMAN		18	2074	+		Ovarian(120;0.128)	UPI00001CE513	602			Formyltetrahydrofolate synthetase.		SNV	MTHFD1L,splice_region_variant,p.=,ENST00000367321,NM_001242768.1,NM_015440.4,NM_001242767.1;	uc003qob.2	c.1806G>A	2080/3604	1	1			c.1806G>A						6	SNP	c.(1804-1806)GCG>GCA	63	63			ovary(3)|large_intestine(1)	4	Broad	methylenetetrahydrofolate dehydrogenase (NADP+			151281413		0.612	ENSG00000120254	9746	g.chr6:151281413G>A	folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity							111.077732	KEEP	18	31	-1	51	34	18	31	-1	113.30852	51	34	0.350877	1	0	0	0	0	0	0	1	0	--	--		0	A			MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Silent_p.A603A|MTHFD1L_uc003qoc.2_Silent_p.A550A	183	GBM-26-5134-TP	p.A602A	G	TGGTTCAGGCGCAGTTTGACA	NM_015440	NP_056255	151281413	Q6UB35	C1TM_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	18	2074	+	A	A		Ovarian(120;0.128)	Silent	602			Formyltetrahydrofolate synthetase.			
MTHFD1L	0	broad.mit.edu	GRCh37	6	151336802	151336802	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-4208-01	TCGA-32-4208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367321.3:c.2559C>T	p.Ser853=	p.S853=	ENST00000367321	NM_001242768.1	853	agC/agT	0			1			T	S	uc003qob.2	protein_coding	YES	CCDS5228.1			2559/2937									ovary(3)|large_intestine(1)	4	c.(2557-2559)AGC>AGT			HAMAP:MF_01543,hmmpanther:PTHR10025,hmmpanther:PTHR10025:SF14,Pfam_domain:PF01268,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	methylenetetrahydrofolate dehydrogenase (NADP+				ENSP00000356290		24/28									COSM3410662,COSM3410663	24/28	.		ENST00000367321	Transcript			folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	ENSG00000120254	g.chr6:151336802C>T	21055			LOW								--	--	1																																		MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Silent_p.S854S|MTHFD1L_uc003qoc.2_Silent_p.S801S	1,1	1			p.S853S	NM_015440	NP_056255			1,1	C1TM_HUMAN	MTHFD1L	HGNC	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	Q5JYA8_HUMAN,Q5JYA3_HUMAN,B7ZM99_HUMAN,B2RD24_HUMAN		24	2827	+		Ovarian(120;0.128)	UPI00001CE513	853			Formyltetrahydrofolate synthetase.		SNV	MTHFD1L,synonymous_variant,p.=,ENST00000367321,NM_001242768.1,NM_015440.4,NM_001242767.1;MTHFD1L,synonymous_variant,p.=,ENST00000420192,;	uc003qob.2	c.2559C>T	2833/3604	1	1			c.2559C>T						6	SNP	c.(2557-2559)AGC>AGT	9	9			ovary(3)|large_intestine(1)	4	Broad	methylenetetrahydrofolate dehydrogenase (NADP+			151336802		0.463	ENSG00000120254	9746	g.chr6:151336802C>T	folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity							0.491434	KEEP	1	2	-1	21	23	1	2	-1	7.905701	21	23	0.075	1	0	0	0	0	0	0	1	0	--	--		0	T			MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Silent_p.S854S|MTHFD1L_uc003qoc.2_Silent_p.S801S	243	GBM-32-4208-TP	p.S853S	C	GTAAAAGAAGCCGATTCCAGT	NM_015440	NP_056255	151336802	Q6UB35	C1TM_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	24	2827	+	T	T		Ovarian(120;0.128)	Silent	853			Formyltetrahydrofolate synthetase.			
MTHFD2L	0	broad.mit.edu	GRCh37	4	75065528	75065528	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-4157-01	TCGA-14-4157-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395759.2:c.469A>G	p.Thr157Ala	p.T157A	ENST00000395759	NM_001144978.1	157	Aca/Gca	0			1			G	T/A	uc003hhn.1	protein_coding	YES	CCDS47075.1			469/1044									ovary(1)|central_nervous_system(1)	2	c.(295-297)ACA>GCA			HAMAP:MF_01576,hmmpanther:PTHR10025:SF15,hmmpanther:PTHR10025,Pfam_domain:PF00763,Gene3D:3.40.192.10,Superfamily_domains:SSF53223	methylenetetrahydrofolate dehydrogenase 2-like				ENSP00000379108		8-Apr									COSM3409483,COSM3409482	8-Apr	.		ENST00000395759	Transcript			folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity	ENSG00000163738	g.chr4:75065528A>G	31865			MODERATE		0.3	neutral	getma.org/?cm=msa&ty=f&p=MTD2L_HUMAN&rb=114&re=288&var=T157A	getma.org/pdb.php?prot=MTD2L_HUMAN&from=114&to=288&var=T157A	getma.org/?cm=var&var=hg19,4,75065528,A,G&fts=all	T157A	--	--	1																																		MTHFD2L_uc011cbj.1_Missense_Mutation_p.T99A|MTHFD2L_uc011cbk.1_Missense_Mutation_p.T157A	1,1	1		benign(0.027)	p.T99A	NM_001144978	NP_001138450		tolerated(0.5)	1,1	MTD2L_HUMAN	MTHFD2L	HGNC	Q9H903	MTD2L_HUMAN	all cancers(17;0.0101)|Lung(101;0.196)		F8W7P9_HUMAN		7	813	+			UPI000192952C	99					SNV	MTHFD2L,missense_variant,p.Thr157Ala,ENST00000395759,NM_001144978.1;MTHFD2L,missense_variant,p.Thr99Ala,ENST00000325278,;MTHFD2L,missense_variant,p.Thr22Ala,ENST00000433372,;MTHFD2L,missense_variant,p.Thr99Ala,ENST00000359107,;MTHFD2L,missense_variant,p.Thr99Ala,ENST00000331145,;MTHFD2L,missense_variant,p.Thr99Ala,ENST00000429519,;MTHFD2L,non_coding_transcript_exon_variant,,ENST00000492183,;	uc003hhn.1	c.295A>G	496/2354	3	3			c.295A>G						4	SNP	c.(295-297)ACA>GCA	13	13			ovary(1)|central_nervous_system(1)	2	Broad	methylenetetrahydrofolate dehydrogenase 2-like			75065528		0.313	ENSG00000163738	9748	g.chr4:75065528A>G	folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity							-20.260726	KEEP	2	1	-1	65	53	2	1	-1	6.85795	65	53	0.027273	1	0	0	0	0	1	0	0	0	--	--		0	G			MTHFD2L_uc011cbj.1_Missense_Mutation_p.T99A|MTHFD2L_uc011cbk.1_Missense_Mutation_p.T157A	152	GBM-14-4157-TP	p.T99A	A	TGATGAGCGAACAATATGCAA	NM_001144978	NP_001138450	75065528	Q9H903	MTD2L_HUMAN	0	all cancers(17;0.0101)|Lung(101;0.196)		7	813	+	G	G			Missense_Mutation	99						
MTHFR	4524	broad.mit.edu	GRCh37	1	11850780	11850780	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0171-01	TCGA-06-0171-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376592.1:c.1928del	p.Leu643ProfsTer19	p.L643Pfs*19	ENST00000376592		643	cTc/cc	0			1			-	L/X	uc001atc.1	protein_coding		CCDS137.1			1928/1971										0	c.(1927-1929)CTCfs			hmmpanther:PTHR21091,hmmpanther:PTHR21091:SF31	5,10-methylenetetrahydrofolate reductase	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)			ENSP00000365775		12-Dec									COSM2150324	12-Dec	.		ENST00000376590	Transcript	1		blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	ENSG00000177000	g.chr1:11850780delA	7436			HIGH								--	--	1																																		MTHFR_uc001atb.1_Frame_Shift_Del_p.L666fs	1				p.L643fs	NM_005957	NP_005948			1	MTHR_HUMAN	MTHFR	HGNC	P42898	MTHR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Q9NY63_HUMAN,Q8IU67_HUMAN,Q5SNW5_HUMAN,L7P8G6_HUMAN		12	2112	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	UPI0000141098	643					deletion	MTHFR,frameshift_variant,p.Leu643ProfsTer19,ENST00000376592,;MTHFR,frameshift_variant,p.Leu684ProfsTer19,ENST00000376583,;MTHFR,frameshift_variant,p.Leu643ProfsTer19,ENST00000376590,NM_005957.4;MTHFR,frameshift_variant,p.Leu684ProfsTer19,ENST00000376585,;C1orf167,downstream_gene_variant,,ENST00000433342,;C1orf167,downstream_gene_variant,,ENST00000312793,;C1orf167,downstream_gene_variant,,ENST00000444493,;C1orf167,downstream_gene_variant,,ENST00000449278,;C1orf167,downstream_gene_variant,,ENST00000482358,;C1orf167,downstream_gene_variant,,ENST00000475041,;	uc001atc.1	c.1928delT	2112/6232	5	5			c.1928delT						1	DEL	c.(1927-1929)CTCfs	64	64				0	Broad	5,10-methylenetetrahydrofolate reductase		Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	11850780		0.582	ENSG00000177000	9749	g.chr1:11850780delA	blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding																				0.49	1	1	0	1	0	0	0	0	0	--	--		0	-			MTHFR_uc001atb.1_Frame_Shift_Del_p.L666fs	35	GBM-06-0171-TP	p.L643fs	A	GGGCCTGTTGAGAAGCTCCAA	NM_005957	NP_005948	11850780	P42898	MTHR_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	12	2112	-	-	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	Frame_Shift_Del	643						
MTHFR	4524	broad.mit.edu	GRCh37	1	11861244	11861244	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-2559-01	TCGA-06-2559-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376592.1:c.449T>C	p.Leu150Pro	p.L150P	ENST00000376592		150	cTg/cCg	0			1			G	L/P	uc001atc.1	protein_coding		CCDS137.1			449/1971										0	c.(448-450)CTG>CCG			Gene3D:3.20.20.220,Pfam_domain:PF02219,hmmpanther:PTHR21091,hmmpanther:PTHR21091:SF31,Superfamily_domains:SSF51730,TIGRFAM_domain:TIGR00677	5,10-methylenetetrahydrofolate reductase	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)			ENSP00000365775		12-Mar									COSM3747776,COSM3747777	12-Mar	.		ENST00000376590	Transcript	1		blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	ENSG00000177000	g.chr1:11861244A>G	7436			MODERATE		2.47	medium	getma.org/?cm=msa&ty=f&p=MTHR_HUMAN&rb=48&re=337&var=L150P	getma.org/pdb.php?prot=MTHR_HUMAN&from=48&to=337&var=L150P	getma.org/?cm=var&var=hg19,1,11861244,A,G&fts=all	L150P	--	--	1																																		MTHFR_uc001atb.1_Missense_Mutation_p.L173P	1,1			probably_damaging(0.971)	p.L150P	NM_005957	NP_005948		deleterious(0)	1,1	MTHR_HUMAN	MTHFR	HGNC	P42898	MTHR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Q9NY63_HUMAN,Q8IU67_HUMAN,Q5SNW5_HUMAN,L7P8G6_HUMAN		3	633	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	UPI0000141098	150					SNV	MTHFR,missense_variant,p.Leu150Pro,ENST00000376592,;MTHFR,missense_variant,p.Leu191Pro,ENST00000376583,;MTHFR,missense_variant,p.Leu150Pro,ENST00000376590,NM_005957.4;MTHFR,missense_variant,p.Leu191Pro,ENST00000376585,;CLCN6,upstream_gene_variant,,ENST00000312413,;MTHFR,downstream_gene_variant,,ENST00000423400,;MTHFR,downstream_gene_variant,,ENST00000376486,;MTHFR,downstream_gene_variant,,ENST00000418034,;MTHFR,downstream_gene_variant,,ENST00000431243,;MTHFR,downstream_gene_variant,,ENST00000413656,;	uc001atc.1	c.449T>C	633/6232	4	4			c.449T>C						1	SNP	c.(448-450)CTG>CCG	29	29				0	Broad	5,10-methylenetetrahydrofolate reductase		Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	11861244		0.602	ENSG00000177000	9749	g.chr1:11861244A>G	blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding							-59.829085	KEEP	4	0	-1	128	139	4	0	-1	8.558282	128	139	0.015564	1	0	0	0	0	1	0	0	0	--	--		0	G			MTHFR_uc001atb.1_Missense_Mutation_p.L173P	83	GBM-06-2559-TP	p.L150P	A	GATGTTCTTCAGGCCCAGCTG	NM_005957	NP_005948	11861244	P42898	MTHR_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	3	633	-	G	G	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	150						
MTM1	0	broad.mit.edu	GRCh37	X	149839946	149839946	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370396.2:c.1690C>T	p.Arg564Cys	p.R564C	ENST00000370396	NM_000252.2	564	Cgc/Tgc	0			1			T	R/C	uc004fef.3	protein_coding	YES	CCDS14694.1			1690/1812									upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3	c.(1690-1692)CGC>TGC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10807:SF62,hmmpanther:PTHR10807	myotubularin				ENSP00000359423		15/15	8.24E-06					2.09E-05			rs782803138,COSM3406071	15/15	.		ENST00000370396	Transcript	1		endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	ENSG00000171100	g.chrX:149839946C>T	7448			MODERATE		2.45	medium	getma.org/?cm=msa&ty=f&p=MTM1_HUMAN&rb=424&re=603&var=R564C	NA	getma.org/?cm=var&var=hg19,X,149839946,C,T&fts=all	R564C	--	--	1																																		MTM1_uc011mxx.1_RNA|MTM1_uc011mxy.1_Missense_Mutation_p.R527C|MTM1_uc011mxz.1_Missense_Mutation_p.R449C|MTM1_uc010nte.2_Missense_Mutation_p.R432C	0,1	1		probably_damaging(0.998)	p.R564C	NM_000252	NP_000243		deleterious(0.02)	0,1	MTM1_HUMAN	MTM1	HGNC	Q13496	MTM1_HUMAN			B7Z499_HUMAN		15	1766	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000012F7F5	564					SNV	MTM1,missense_variant,p.Arg564Cys,ENST00000370396,NM_000252.2;MTM1,missense_variant,p.Arg449Cys,ENST00000543350,;MTM1,missense_variant,p.Arg527Cys,ENST00000413012,;MTM1,3_prime_UTR_variant,,ENST00000542741,;MTM1,non_coding_transcript_exon_variant,,ENST00000306167,;	uc004fef.3	c.1690C>T	1744/3593	2	2			c.1690C>T						23	SNP	c.(1690-1692)CGC>TGC	20	20			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3	Broad	myotubularin			149839946		0.517	ENSG00000171100	9755	g.chrX:149839946C>T	endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity							38.66187	KEEP	13	7	-1	31	37	13	7	-1	43.582473	31	37	0.225352	1	0	0	0	0	1	0	0	0	--	--		0	T			MTM1_uc011mxx.1_RNA|MTM1_uc011mxy.1_Missense_Mutation_p.R527C|MTM1_uc011mxz.1_Missense_Mutation_p.R449C|MTM1_uc010nte.2_Missense_Mutation_p.R432C	159	GBM-19-1390-TP	p.R564C	C	CTTAGCCTTACGCGACGAATA	NM_000252	NP_000243	149839946	Q13496	MTM1_HUMAN	0			15	1766	+	T	T	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	564						
MTMR1	0	broad.mit.edu	GRCh37	X	149924177	149924177	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01	TCGA-19-2631-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370390.3:c.1673C>T	p.Thr558Met	p.T558M	ENST00000370390	NM_003828.2	558	aCg/aTg	0			1			T	T/M	uc004fei.2	protein_coding		CCDS14695.1			1673/1998									ovary(1)	1	c.(1672-1674)ACG>ATG			Superfamily_domains:SSF52799,hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF40,PROSITE_profiles:PS51339	myotubularin-related protein 1				ENSP00000359417		14/16									COSM1466304	14/16	.		ENST00000370390	Transcript				plasma membrane	protein tyrosine phosphatase activity	ENSG00000063601	g.chrX:149924177C>T	7449			MODERATE		3.67	high	getma.org/?cm=msa&ty=f&p=MTMR1_HUMAN&rb=226&re=601&var=T558M	getma.org/pdb.php?prot=MTMR1_HUMAN&from=226&to=601&var=T558M	getma.org/?cm=var&var=hg19,X,149924177,C,T&fts=all	T558M	--	--	1																																		MTMR1_uc011mya.1_Missense_Mutation_p.T464M|MTMR1_uc004feh.1_Missense_Mutation_p.T566M|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_RNA	1			probably_damaging(0.987)	p.T558M	NM_003828	NP_003819		deleterious(0)	1	MTMR1_HUMAN	MTMR1	HGNC	Q13613	MTMR1_HUMAN			F8W8S8_HUMAN,F8W764_HUMAN,E9PIH9_HUMAN,B7Z3D5_HUMAN		14	1808	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI0000167F8A	558			Myotubularin phosphatase.		SNV	MTMR1,missense_variant,p.Thr566Met,ENST00000445323,;MTMR1,missense_variant,p.Thr558Met,ENST00000544228,;MTMR1,missense_variant,p.Thr558Met,ENST00000370390,NM_003828.2;MTMR1,missense_variant,p.Thr464Met,ENST00000541925,;MTMR1,3_prime_UTR_variant,,ENST00000538506,;MTMR1,downstream_gene_variant,,ENST00000451863,;MTMR1,3_prime_UTR_variant,,ENST00000485376,;MTMR1,3_prime_UTR_variant,,ENST00000488357,;MTMR1,downstream_gene_variant,,ENST00000370387,;	uc004fei.2	c.1673C>T	1830/2755	2	2			c.1673C>T						23	SNP	c.(1672-1674)ACG>ATG	46	46			ovary(1)	1	Broad	myotubularin-related protein 1			149924177		0.323	ENSG00000063601	9756	g.chrX:149924177C>T		plasma membrane	protein tyrosine phosphatase activity							195.424608	KEEP	33	37	-1	34	22	33	37	-1	195.574381	34	22	0.538462	1	0	0	0	0	1	0	0	0	--	--		0	T			MTMR1_uc011mya.1_Missense_Mutation_p.T464M|MTMR1_uc004feh.1_Missense_Mutation_p.T566M|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_RNA	167	GBM-19-2631-TP	p.T558M	C	TATACAAAGACGATATCTTTA	NM_003828	NP_003819	149924177	Q13613	MTMR1_HUMAN	0			14	1808	+	T	T	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	558			Myotubularin phosphatase.			
MTMR1	0	broad.mit.edu	GRCh37	X	149931076	149931076	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-76-4935-01	TCGA-76-4935-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370390.3:c.1872C>A	p.Val624=	p.V624=	ENST00000370390	NM_003828.2	624	gtC/gtA	0			1			A	V	uc004fei.2	protein_coding		CCDS14695.1			1872/1998									ovary(1)	1	c.(1870-1872)GTC>GTA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF40	myotubularin-related protein 1				ENSP00000359417		15/16									COSM3406074	15/16	.		ENST00000370390	Transcript				plasma membrane	protein tyrosine phosphatase activity	ENSG00000063601	g.chrX:149931076C>A	7449			LOW								--	--	1																																		MTMR1_uc011mya.1_Silent_p.V530V|MTMR1_uc004feh.1_Silent_p.V632V|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_Intron	1				p.V624V	NM_003828	NP_003819			1	MTMR1_HUMAN	MTMR1	HGNC	Q13613	MTMR1_HUMAN			F8W8S8_HUMAN,F8W764_HUMAN,E9PIH9_HUMAN,B7Z3D5_HUMAN		15	2007	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI0000167F8A	624					SNV	MTMR1,synonymous_variant,p.=,ENST00000445323,;MTMR1,synonymous_variant,p.=,ENST00000544228,;MTMR1,synonymous_variant,p.=,ENST00000370390,NM_003828.2;MTMR1,synonymous_variant,p.=,ENST00000541925,;MTMR1,intron_variant,,ENST00000538506,;CD99L2,downstream_gene_variant,,ENST00000370377,NM_031462.3,NM_001242614.1;CD99L2,downstream_gene_variant,,ENST00000355149,NM_134445.3,NM_134446.3;CD99L2,downstream_gene_variant,,ENST00000437787,NM_001184808.1;CD99L2,downstream_gene_variant,,ENST00000346693,;MTMR1,3_prime_UTR_variant,,ENST00000485376,;MTMR1,intron_variant,,ENST00000488357,;	uc004fei.2	c.1872C>A	2029/2755	2	2			c.1872C>A						23	SNP	c.(1870-1872)GTC>GTA	25	25			ovary(1)	1	Broad	myotubularin-related protein 1			149931076		0.627	ENSG00000063601	9756	g.chrX:149931076C>A		plasma membrane	protein tyrosine phosphatase activity							16.161547	KEEP	9	13	0.590909091	72	89	9	13	0.590909091	38.299247	72	89	0.113333	1	0	0	0	0	0	0	1	0	--	--		0	A			MTMR1_uc011mya.1_Silent_p.V530V|MTMR1_uc004feh.1_Silent_p.V632V|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_Intron	273	GBM-76-4935-TP	p.V624V	C	TGCTGGCCGTCAGGGCGGAGC	NM_003828	NP_003819	149931076	Q13613	MTMR1_HUMAN	0			15	2007	+	A	A	Acute lymphoblastic leukemia(192;6.56e-05)		Silent	624						
MTMR11	10903	broad.mit.edu	GRCh37	1	149901596	149901596	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0137-01	TCGA-06-0137-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000439741.2:c.1860A>G	p.Pro620=	p.P620=	ENST00000439741	NM_001145862.1	620	ccA/ccG	0			1			C	P	uc001etl.3	protein_coding	YES	CCDS53360.1			1860/2130									central_nervous_system(1)	1	c.(1858-1860)CCA>CCG			Low_complexity_(Seg):seg,Superfamily_domains:SSF52799,Pfam_domain:PF12578,hmmpanther:PTHR10807:SF51,hmmpanther:PTHR10807,PROSITE_profiles:PS51339	myotubularin related protein 11 isoform a				ENSP00000391668		16/17									COSM2149602,COSM2149601	16/17	.		ENST00000439741	Transcript					phosphatase activity	ENSG00000014914	g.chr1:149901596T>C	24307			LOW								--	--	1																																		SF3B4_uc001etj.1_5'Flank|SF3B4_uc001etk.1_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.1_Silent_p.P548P	1,1	1			p.P620P	NM_001145862	NP_001139334			1,1	MTMRB_HUMAN	MTMR11	HGNC	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)				16	2111	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		UPI000173AA17	620			Myotubularin phosphatase.		SNV	MTMR11,synonymous_variant,p.=,ENST00000439741,NM_001145862.1;MTMR11,synonymous_variant,p.=,ENST00000369140,NM_181873.3;MTMR11,3_prime_UTR_variant,,ENST00000406732,;MTMR11,3_prime_UTR_variant,,ENST00000361405,;SF3B4,upstream_gene_variant,,ENST00000271628,NM_005850.4;SF3B4,upstream_gene_variant,,ENST00000457312,;MTMR11,non_coding_transcript_exon_variant,,ENST00000492824,;MTMR11,non_coding_transcript_exon_variant,,ENST00000482025,;MTMR11,non_coding_transcript_exon_variant,,ENST00000466496,;MTMR11,non_coding_transcript_exon_variant,,ENST00000495054,;MTMR11,downstream_gene_variant,,ENST00000490310,;MTMR11,downstream_gene_variant,,ENST00000493562,;MTMR11,downstream_gene_variant,,ENST00000479272,;MTMR11,non_coding_transcript_exon_variant,,ENST00000482343,;	uc001etl.3	c.1860A>G	2111/2856	3	3			c.1860A>G						1	SNP	c.(1858-1860)CCA>CCG	64	64			central_nervous_system(1)	1	Broad	myotubularin related protein 11 isoform a			149901596		0.587	ENSG00000014914	9758	g.chr1:149901596T>C			phosphatase activity			238			238	324.222613	KEEP	49	63	-1	62	63	49	63	-1	324.462622	62	63	0.465812	1	0	0	0	0	0	0	1	0	--	--		0	C			SF3B4_uc001etj.1_5'Flank|SF3B4_uc001etk.1_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.1_Silent_p.P548P	18	GBM-06-0137-TP	p.P620P	T	GCAGCAGCCCTGGAGGTAAAG	NM_001145862	NP_001139334	149901596	A4FU01	MTMRB_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		16	2111	-	C	C	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		Silent	620			Myotubularin phosphatase.			
MTMR11	0	broad.mit.edu	GRCh37	1	149906114	149906114	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01	TCGA-76-4935-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000439741.2:c.653C>T	p.Thr218Met	p.T218M	ENST00000439741	NM_001145862.1	218	aCg/aTg	0	A:0	A:0.0008	1	A:0		A	T/M	uc001etl.3	protein_coding	YES	CCDS53360.1			653/2130									central_nervous_system(1)	1	c.(652-654)ACG>ATG			Superfamily_domains:SSF52799,hmmpanther:PTHR10807:SF51,hmmpanther:PTHR10807,PROSITE_profiles:PS51339	myotubularin related protein 11 isoform a		A:0	A:0.0001	ENSP00000391668	A:0	17-Jul	1.65E-05					3.00E-05			rs368805416,COSM895422,COSM895421	17-Jul	.		ENST00000439741	Transcript		A:0.0002			phosphatase activity	ENSG00000014914	g.chr1:149906114G>A	24307			MODERATE		1.83	low	getma.org/?cm=msa&ty=f&p=MTMRB_HUMAN&rb=196&re=639&var=T218M	getma.org/pdb.php?prot=MTMRB_HUMAN&from=196&to=639&var=T218M	getma.org/?cm=var&var=hg19,1,149906114,G,A&fts=all	T218M	--	--	1																																		MTMR11_uc001etm.1_Missense_Mutation_p.T146M|MTMR11_uc010pbm.1_Missense_Mutation_p.T190M|MTMR11_uc010pbn.1_Missense_Mutation_p.T60M	0,1,1	1		benign(0.032)	p.T218M	NM_001145862	NP_001139334	A:0	deleterious(0.03)	0,1,1	MTMRB_HUMAN	MTMR11	HGNC	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)				7	904	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		UPI000173AA17	218			Myotubularin phosphatase.		SNV	MTMR11,missense_variant,p.Thr218Met,ENST00000439741,NM_001145862.1;MTMR11,missense_variant,p.Thr190Met,ENST00000406732,;MTMR11,missense_variant,p.Thr146Met,ENST00000369140,NM_181873.3;MTMR11,missense_variant,p.Thr218Met,ENST00000361405,;OTUD7B,downstream_gene_variant,,ENST00000369135,NM_020205.3;MTMR11,non_coding_transcript_exon_variant,,ENST00000492824,;MTMR11,non_coding_transcript_exon_variant,,ENST00000482025,;MTMR11,non_coding_transcript_exon_variant,,ENST00000466496,;MTMR11,non_coding_transcript_exon_variant,,ENST00000479272,;MTMR11,upstream_gene_variant,,ENST00000490310,;MTMR11,upstream_gene_variant,,ENST00000495054,;MTMR11,upstream_gene_variant,,ENST00000493562,;MTMR11,non_coding_transcript_exon_variant,,ENST00000482343,;	uc001etl.3	c.653C>T	904/2856	2	2			c.653C>T						1	SNP	c.(652-654)ACG>ATG	35	35			central_nervous_system(1)	1	Broad	myotubularin related protein 11 isoform a			149906114		0.572	ENSG00000014914	9758	g.chr1:149906114G>A			phosphatase activity			238			238	151.355447	KEEP	28	29	-1	44	36	28	29	-1	151.711229	44	36	0.441667	1	0	0	0	0	1	0	0	0	--	--		0	A			MTMR11_uc001etm.1_Missense_Mutation_p.T146M|MTMR11_uc010pbm.1_Missense_Mutation_p.T190M|MTMR11_uc010pbn.1_Missense_Mutation_p.T60M	273	GBM-76-4935-TP	p.T218M	G	CTCGTTGACCGTGCTGACCCT	NM_001145862	NP_001139334	149906114	A4FU01	MTMRB_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		7	904	-	A	A	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		Missense_Mutation	218			Myotubularin phosphatase.			
MTMR12	0	broad.mit.edu	GRCh37	5	32230234	32230234	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-08-0386-01	TCGA-08-0386-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382142.3:c.1894G>A	p.Glu632Lys	p.E632K	ENST00000382142	NM_001040446.1	632	Gag/Aag	0			1			T	E/K	uc003jhq.2	protein_coding	YES	CCDS34138.1			1894/2244									ovary(1)	1	c.(1894-1896)GAG>AAG			PROSITE_profiles:PS51339,hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF37,Pfam_domain:PF12578,Superfamily_domains:SSF52799	myotubularin related protein 12				ENSP00000371577		16/16	1.65E-05		8.64E-05					6.10E-05	rs780269116,COSM3410233	16/16	.		ENST00000382142	Transcript				cytoplasm	phosphatase activity	ENSG00000150712	g.chr5:32230234C>T	18191			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=MTMRC_HUMAN&rb=559&re=691&var=E632K	NA	getma.org/?cm=var&var=hg19,5,32230234,C,T&fts=all	E632K	--	--	1																																		MTMR12_uc010iuk.2_Missense_Mutation_p.E578K|MTMR12_uc010iul.2_Missense_Mutation_p.E522K	0,1	1		possibly_damaging(0.895)	p.E632K	NM_001040446	NP_001035536		tolerated(0.4)	0,1	MTMRC_HUMAN	MTMR12	HGNC	Q9C0I1	MTMRC_HUMAN					16	2064	-			UPI00001678D2	632			Myotubularin phosphatase.		SNV	MTMR12,missense_variant,p.Glu632Lys,ENST00000382142,NM_001040446.1;MTMR12,missense_variant,p.Glu578Lys,ENST00000280285,;MTMR12,missense_variant,p.Glu522Lys,ENST00000264934,;RNU6-1079P,downstream_gene_variant,,ENST00000362861,;MTMR12,non_coding_transcript_exon_variant,,ENST00000510216,;	uc003jhq.2	c.1894G>A	2065/5187	2	2			c.1894G>A						5	SNP	c.(1894-1896)GAG>AAG	25	25			ovary(1)	1	Broad	myotubularin related protein 12			32230234		0.493	ENSG00000150712	9759	g.chr5:32230234C>T		cytoplasm	phosphatase activity							66.033615	KEEP	22	13	-1	75	103	22	13	-1	87.295213	75	103	0.167488	1	0	0	0	0	1	0	0	0	--	--		0	T			MTMR12_uc010iuk.2_Missense_Mutation_p.E578K|MTMR12_uc010iul.2_Missense_Mutation_p.E522K	116	GBM-08-0386-TP	p.E632K	C	TCGGGCCCCTCGATATGCGGT	NM_001040446	NP_001035536	32230234	Q9C0I1	MTMRC_HUMAN	0			16	2064	-	T	T			Missense_Mutation	632			Myotubularin phosphatase.			
MTMR12	0	broad.mit.edu	GRCh37	5	32255876	32255876	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C			TCGA-76-4925-01	TCGA-76-4925-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382142.3:c.714-2A>G		p.X238_splice	ENST00000382142	NM_001040446.1			0			1			C		uc003jhq.2	protein_coding	YES	CCDS34138.1			714/2244									ovary(1)	1	c.e8-1				myotubularin related protein 12				ENSP00000371577											COSM2157510		.		ENST00000382142	Transcript				cytoplasm	phosphatase activity	ENSG00000150712	g.chr5:32255876T>C	18191			HIGH	15-Jul							--	--	1																																		MTMR12_uc010iuk.2_Splice_Site_p.R238_splice|MTMR12_uc010iul.2_Splice_Site_p.R238_splice	1	1			p.R238_splice	NM_001040446	NP_001035536			1	MTMRC_HUMAN	MTMR12	HGNC	Q9C0I1	MTMRC_HUMAN					8	884	-			UPI00001678D2						SNV	MTMR12,splice_acceptor_variant,,ENST00000382142,NM_001040446.1;MTMR12,splice_acceptor_variant,,ENST00000280285,;MTMR12,splice_acceptor_variant,,ENST00000264934,;MTMR12,non_coding_transcript_exon_variant,,ENST00000504049,;	uc003jhq.2	c.714_splice	-/5187	5	3			c.714_splice						5	SNP	c.e8-1	52	52			ovary(1)	1	Broad	myotubularin related protein 12			32255876		0.418	ENSG00000150712	9759	g.chr5:32255876T>C		cytoplasm	phosphatase activity							33.942461	KEEP	10	2	-1	15	7	10	2	-1	34.445669	15	7	0.357143	1	0	0	0	0	0	0	0	1	--	--		0	C			MTMR12_uc010iuk.2_Splice_Site_p.R238_splice|MTMR12_uc010iul.2_Splice_Site_p.R238_splice	265	GBM-76-4925-TP	p.R238_splice	T	GCTGGCAATCTAGAAGAAAGA	NM_001040446	NP_001035536	32255876	Q9C0I1	MTMRC_HUMAN	0			8	884	-	C	C			Splice_Site							
MTMR2	8898	broad.mit.edu	GRCh37	11	95580911	95580911	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5856-01	TCGA-06-5856-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000346299.5:c.1146C>T	p.Asn382=	p.N382=	ENST00000346299	NM_016156.5	382	aaC/aaT	0			1			A	N	uc001pfu.2	protein_coding	YES	CCDS8305.1			1146/1932									pancreas(1)	1	c.(1144-1146)AAC>AAT			Pfam_domain:PF06602,PROSITE_profiles:PS51339,hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF40,SMART_domains:SM00404,Superfamily_domains:SSF52799	myotubularin-related protein 2 isoform 1				ENSP00000345752		15-Oct									COSM3398227,COSM3398226	15-Oct	.		ENST00000346299	Transcript	1			nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000087053	g.chr11:95580911G>A	7450			LOW								--	--	1																																		MTMR2_uc001pfv.2_Silent_p.N310N|MTMR2_uc001pfs.2_Silent_p.N310N|MTMR2_uc001pft.2_Silent_p.N310N|MTMR2_uc010ruj.1_Silent_p.N365N	1,1	1			p.N382N	NM_016156	NP_057240			1,1	MTMR2_HUMAN	MTMR2	HGNC	Q13614	MTMR2_HUMAN			C9JEX3_HUMAN		10	1399	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	UPI00001AF36F	382			Myotubularin phosphatase.		SNV	MTMR2,synonymous_variant,p.=,ENST00000393223,NM_001243571.1,NM_201278.2;MTMR2,synonymous_variant,p.=,ENST00000346299,NM_016156.5;MTMR2,synonymous_variant,p.=,ENST00000409459,;MTMR2,synonymous_variant,p.=,ENST00000352297,NM_201281.2;MTMR2,synonymous_variant,p.=,ENST00000444541,;MTMR2,downstream_gene_variant,,ENST00000484818,;	uc001pfu.2	c.1146C>T	1487/4681	1	1			c.1146C>T						11	SNP	c.(1144-1146)AAC>AAT	64	64			pancreas(1)	1	Broad	myotubularin-related protein 2 isoform 1			95580911		0.368	ENSG00000087053	9762	g.chr11:95580911G>A		nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity							23.423059	KEEP	8	3	-1	14	28	8	3	-1	26.430485	14	28	0.227273	1	0	0	0	0	0	0	1	0	--	--		0	A			MTMR2_uc001pfv.2_Silent_p.N310N|MTMR2_uc001pfs.2_Silent_p.N310N|MTMR2_uc001pft.2_Silent_p.N310N|MTMR2_uc010ruj.1_Silent_p.N365N	101	GBM-06-5856-TP	p.N382N	G	TAGATTCCAAGTTAGACAACC	NM_016156	NP_057240	95580911	Q13614	MTMR2_HUMAN	0			10	1399	-	A	A		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	Silent	382			Myotubularin phosphatase.			
MTMR3	0	broad.mit.edu	GRCh37	22	30413988	30413988	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-2638-01	TCGA-32-2638-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000401950.2:c.1747A>G	p.Thr583Ala	p.T583A	ENST00000401950	NM_021090.3	583	Acc/Gcc	0			1			G	T/A	uc003agv.3	protein_coding	YES	CCDS13870.1			1747/3597									breast(3)|ovary(1)|skin(1)	5	c.(1747-1749)ACC>GCC			hmmpanther:PTHR10807:SF66,hmmpanther:PTHR10807	myotubularin-related protein 3 isoform c				ENSP00000384651		16/20	4.94E-05		0.000259			1.50E-05		0.000121	rs770843170,COSM3405582,COSM3405581	16/20	.		ENST00000401950	Transcript			phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	ENSG00000100330	g.chr22:30413988A>G	7451			MODERATE		0.845	low	getma.org/?cm=msa&ty=f&p=MTMR3_HUMAN&rb=462&re=661&var=T583A	NA	getma.org/?cm=var&var=hg19,22,30413988,A,G&fts=all	T583A	--	--	1																																		MTMR3_uc003agu.3_Missense_Mutation_p.T583A|MTMR3_uc003agw.3_Missense_Mutation_p.T583A	0,1,1	1		benign(0.015)	p.T583A	NM_021090	NP_066576		tolerated(0.19)	0,1,1	MTMR3_HUMAN	MTMR3	HGNC	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		Q9UPM2_HUMAN,G5E953_HUMAN,C9JLU3_HUMAN		16	2075	+			UPI0000073EF2	583					SNV	MTMR3,missense_variant,p.Thr583Ala,ENST00000333027,NM_153051.2,NM_153050.2;MTMR3,missense_variant,p.Thr583Ala,ENST00000401950,NM_021090.3;MTMR3,missense_variant,p.Thr447Ala,ENST00000323630,;MTMR3,missense_variant,p.Thr583Ala,ENST00000351488,;MTMR3,missense_variant,p.Thr583Ala,ENST00000406629,;CTA-85E5.10,intron_variant,,ENST00000429350,;CTA-85E5.10,downstream_gene_variant,,ENST00000453743,;MTMR3,non_coding_transcript_exon_variant,,ENST00000492087,;MTMR3,upstream_gene_variant,,ENST00000491251,;	uc003agv.3	c.1747A>G	2089/6018	3	3			c.1747A>G						22	SNP	c.(1747-1749)ACC>GCC	7	7			breast(3)|ovary(1)|skin(1)	5	Broad	myotubularin-related protein 3 isoform c			30413988		0.632	ENSG00000100330	9763	g.chr22:30413988A>G	phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity							142.721795	KEEP	34	22	-1	41	54	34	22	-1	144.840716	41	54	0.362205	1	0	0	0	0	1	0	0	0	--	--		0	G			MTMR3_uc003agu.3_Missense_Mutation_p.T583A|MTMR3_uc003agw.3_Missense_Mutation_p.T583A	242	GBM-32-2638-TP	p.T583A	A	CCCATCCCCAACCACCCCTGT	NM_021090	NP_066576	30413988	Q13615	MTMR3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		16	2075	+	G	G			Missense_Mutation	583						
MTMR4	0	broad.mit.edu	GRCh37	17	56582201	56582201	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01	TCGA-32-1970-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323456.5:c.1238G>A	p.Arg413His	p.R413H	ENST00000323456	NM_004687.4	413	cGc/cAc	0			1			T	R/H	uc002iwj.2	protein_coding	YES	CCDS11608.1			1238/3588									skin(1)	1	c.(1237-1239)CGC>CAC			PROSITE_profiles:PS51339,PROSITE_profiles:PS50056,hmmpanther:PTHR10807:SF64,hmmpanther:PTHR10807,PROSITE_patterns:PS00383,Pfam_domain:PF06602,Gene3D:3.90.190.10,Superfamily_domains:SSF52799	myotubularin related protein 4				ENSP00000325285		19-Dec									COSM3403052	19-Dec	.		ENST00000323456	Transcript				cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	ENSG00000108389	g.chr17:56582201C>T	7452			MODERATE		4.65	high	getma.org/?cm=msa&ty=f&p=MTMR4_HUMAN&rb=401&re=455&var=R413H	getma.org/pdb.php?prot=MTMR4_HUMAN&from=401&to=455&var=R413H	getma.org/?cm=var&var=hg19,17,56582201,C,T&fts=all	R413H	--	--	1																																			1	1		probably_damaging(1)	p.R413H	NM_004687	NP_004678		deleterious(0)	1	MTMR4_HUMAN	MTMR4	HGNC	Q9NYA4	MTMR4_HUMAN			J3QRJ2_HUMAN		12	1348	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		UPI00002010DE	413			Myotubularin phosphatase.|Substrate binding (By similarity).		SNV	MTMR4,missense_variant,p.Arg413His,ENST00000323456,NM_004687.4;MTMR4,missense_variant,p.Arg413His,ENST00000579925,;MTMR4,downstream_gene_variant,,ENST00000583656,;MTMR4,downstream_gene_variant,,ENST00000580983,;MTMR4,downstream_gene_variant,,ENST00000582663,;MTMR4,downstream_gene_variant,,ENST00000583966,;	uc002iwj.2	c.1238G>A	1363/5839	2	2			c.1238G>A						17	SNP	c.(1237-1239)CGC>CAC	42	42			skin(1)	1	Broad	myotubularin related protein 4			56582201		0.532	ENSG00000108389	9764	g.chr17:56582201C>T		cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity							-37.761081	KEEP	4	3	-1	93	103	4	3	-1	8.78155	93	103	0.026596	1	0	0	0	0	1	0	0	0	--	--		0	T				228	GBM-32-1970-TP	p.R413H	C	CTGCGGTGTGCGGTCCCAGCC	NM_004687	NP_004678	56582201	Q9NYA4	MTMR4_HUMAN	0			12	1348	-	T	T	Medulloblastoma(34;0.127)|all_neural(34;0.237)		Missense_Mutation	413			Myotubularin phosphatase.|Substrate binding (By similarity).			
MTMR4	9110		GRCh37	17	56581411	56581411	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000323456.5:c.1656G>T	p.Met552Ile	p.M552I	ENST00000323456	NM_004687.4	552	atG/atT	0																																																																																																																																																																																																																																												
MTMR4	9110		GRCh37	17	56585838	56585838	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000323456.5:c.542G>A	p.Ser181Asn	p.S181N	ENST00000323456	NM_004687.4	181	aGc/aAc	0																																																																																																																																																																																																																																												
MTMR8	55613		GRCh37	X	63569901	63569901	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000374852.3:c.518T>G	p.Leu173Trp	p.L173W	ENST00000374852	NM_017677.3	173	tTg/tGg	0																																																																																																																																																																																																																																												
MTMR9	66036	broad.mit.edu	GRCh37	8	11163732	11163732	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0171-01	TCGA-06-0171-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221086.3:c.625A>C	p.Thr209Pro	p.T209P	ENST00000221086	NM_015458.3	209	Aca/Cca	0			1			C	T/P	uc003wtm.2	protein_coding	YES	CCDS5979.1			625/1650										0	c.(625-627)ACA>CCA			PROSITE_profiles:PS51339,hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF56,Pfam_domain:PF06602,Superfamily_domains:SSF52799	myotubularin related protein 9				ENSP00000221086		10-May									COSM3412686	10-May	.		ENST00000221086	Transcript				cytoplasm	phosphatase activity|protein binding	ENSG00000104643	g.chr8:11163732A>C	14596			MODERATE		-0.105	neutral	getma.org/?cm=msa&ty=f&p=MTMR9_HUMAN&rb=152&re=266&var=T209P	getma.org/pdb.php?prot=MTMR9_HUMAN&from=152&to=266&var=T209P	getma.org/?cm=var&var=hg19,8,11163732,A,C&fts=all	T209P	--	--	1																																		MTMR9_uc010lrx.2_Missense_Mutation_p.T102P|MTMR9_uc011kxa.1_Missense_Mutation_p.T124P	1	1		benign(0.009)	p.T209P	NM_015458	NP_056273		tolerated(0.89)	1	MTMR9_HUMAN	MTMR9	HGNC	Q96QG7	MTMR9_HUMAN	STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)	Q9Y4N6_HUMAN,B7Z291_HUMAN		5	1023	+			UPI0000073CA7	209			Myotubularin phosphatase.		SNV	MTMR9,missense_variant,p.Thr209Pro,ENST00000221086,NM_015458.3;MTMR9,missense_variant,p.Thr124Pro,ENST00000526292,;MTMR9,3_prime_UTR_variant,,ENST00000530200,;	uc003wtm.2	c.625A>C	1098/7472	4	4			c.625A>C						8	SNP	c.(625-627)ACA>CCA	35	35				0	Broad	myotubularin related protein 9			11163732		0.458	ENSG00000104643	9768	g.chr8:11163732A>C		cytoplasm	phosphatase activity|protein binding							10.18745	KEEP	3	4	-1	37	28	3	4	-1	20.097822	37	28	0.107692	1	0	0	0	0	1	0	0	0	--	--		0	C			MTMR9_uc010lrx.2_Missense_Mutation_p.T102P|MTMR9_uc011kxa.1_Missense_Mutation_p.T124P	35	GBM-06-0171-TP	p.T209P	A	ACTCACTGGTACAAACGGGAG	NM_015458	NP_056273	11163732	Q96QG7	MTMR9_HUMAN	0	STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)	5	1023	+	C	C			Missense_Mutation	209			Myotubularin phosphatase.			
MTMR9	66036	broad.mit.edu	GRCh37	8	11163737	11163737	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0171-01	TCGA-06-0171-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221086.3:c.630C>G	p.Asn210Lys	p.N210K	ENST00000221086	NM_015458.3	210	aaC/aaG	0			1			G	N/K	uc003wtm.2	protein_coding	YES	CCDS5979.1			630/1650										0	c.(628-630)AAC>AAG			PROSITE_profiles:PS51339,hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF56,Pfam_domain:PF06602,Superfamily_domains:SSF52799	myotubularin related protein 9				ENSP00000221086		10-May									COSM3412687	10-May	.		ENST00000221086	Transcript				cytoplasm	phosphatase activity|protein binding	ENSG00000104643	g.chr8:11163737C>G	14596			MODERATE		1.34	low	getma.org/?cm=msa&ty=f&p=MTMR9_HUMAN&rb=152&re=266&var=N210K	getma.org/pdb.php?prot=MTMR9_HUMAN&from=152&to=266&var=N210K	getma.org/?cm=var&var=hg19,8,11163737,C,G&fts=all	N210K	--	--	1																																		MTMR9_uc010lrx.2_Missense_Mutation_p.N103K|MTMR9_uc011kxa.1_Missense_Mutation_p.N125K	1	1		benign(0.234)	p.N210K	NM_015458	NP_056273		deleterious(0.02)	1	MTMR9_HUMAN	MTMR9	HGNC	Q96QG7	MTMR9_HUMAN	STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)	Q9Y4N6_HUMAN,B7Z291_HUMAN		5	1028	+			UPI0000073CA7	210			Myotubularin phosphatase.		SNV	MTMR9,missense_variant,p.Asn210Lys,ENST00000221086,NM_015458.3;MTMR9,missense_variant,p.Asn125Lys,ENST00000526292,;MTMR9,3_prime_UTR_variant,,ENST00000530200,;	uc003wtm.2	c.630C>G	1103/7472	3	3			c.630C>G						8	SNP	c.(628-630)AAC>AAG	64	64				0	Broad	myotubularin related protein 9			11163737		0.468	ENSG00000104643	9768	g.chr8:11163737C>G		cytoplasm	phosphatase activity|protein binding							10.673845	KEEP	3	4	-1	37	34	3	4	-1	21.604438	37	34	0.101449	1	0	0	0	0	1	0	0	0	--	--		0	G			MTMR9_uc010lrx.2_Missense_Mutation_p.N103K|MTMR9_uc011kxa.1_Missense_Mutation_p.N125K	35	GBM-06-0171-TP	p.N210K	C	CTGGTACAAACGGGAGGAGGT	NM_015458	NP_056273	11163737	Q96QG7	MTMR9_HUMAN	0	STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)	5	1028	+	G	G			Missense_Mutation	210			Myotubularin phosphatase.			
MTNR1B	4544	broad.mit.edu	GRCh37	11	92715286	92715286	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2561-01	TCGA-06-2561-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257068.2:c.897C>T	p.Phe299=	p.F299=	ENST00000257068	NM_005959.3	299	ttC/ttT	0			1			T	F	uc001pdk.1	protein_coding	YES	CCDS8290.1			897/1089									ovary(1)|central_nervous_system(1)	2	c.(895-897)TTC>TTT			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF190,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	melatonin receptor 1B	Ramelteon(DB00980)			ENSP00000257068		2-Feb									COSM2152727	2-Feb	.		ENST00000257068	Transcript			G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	ENSG00000134640	g.chr11:92715286C>T	7464			LOW								--	--	1																																			1	1			p.F299F	NM_005959	NP_005950			1	MTR1B_HUMAN	MTNR1B	HGNC	P49286	MTR1B_HUMAN			Q8TEV7_HUMAN		2	1000	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	UPI0000050408	299			Helical; Name=7; (Potential).		SNV	MTNR1B,synonymous_variant,p.=,ENST00000257068,NM_005959.3;MTNR1B,intron_variant,,ENST00000528076,;MTNR1B,3_prime_UTR_variant,,ENST00000532482,;	uc001pdk.1	c.897C>T	903/1565	2	2			c.897C>T						11	SNP	c.(895-897)TTC>TTT	48	48			ovary(1)|central_nervous_system(1)	2	Broad	melatonin receptor 1B		Ramelteon(DB00980)	92715286		0.522	ENSG00000134640	9770	g.chr11:92715286C>T	G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity							417.132333	KEEP	80	96	-1	189	193	80	96	-1	431.903941	189	193	0.31643	1	0	0	0	0	0	0	1	0	--	--		0	T				84	GBM-06-2561-TP	p.F299F	C	TGGCTTATTTCAACAGCTGCC	NM_005959	NP_005950	92715286	P49286	MTR1B_HUMAN	0			2	1000	+	T	T		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	Silent	299			Helical; Name=7; (Potential).			
MTNR1B	0	broad.mit.edu	GRCh37	11	92714701	92714701	+	synonymous_variant	Silent	SNP	C	C	T	rs139515067		TCGA-12-3649-01	TCGA-12-3649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257068.2:c.312C>T	p.Asp104=	p.D104=	ENST00000257068	NM_005959.3	104	gaC/gaT	0	T:0		1			T	D	uc001pdk.1	protein_coding	YES	CCDS8290.1			312/1089									ovary(1)|central_nervous_system(1)	2	c.(310-312)GAC>GAT			Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF190,Superfamily_domains:SSF81321	melatonin receptor 1B	Ramelteon(DB00980)		T:0.0001	ENSP00000257068		2-Feb	8.24E-05		8.64E-05	0.000231		8.99E-05		6.06E-05	rs139515067,COSM237771	2-Feb	.		ENST00000257068	Transcript			G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	ENSG00000134640	g.chr11:92714701C>T	7464			LOW								--	--	1																																			0,1	1			p.D104D	NM_005959	NP_005950			0,1	MTR1B_HUMAN	MTNR1B	HGNC	P49286	MTR1B_HUMAN			Q8TEV7_HUMAN		2	415	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	UPI0000050408	104			Extracellular (Potential).		SNV	MTNR1B,synonymous_variant,p.=,ENST00000257068,NM_005959.3;MTNR1B,intron_variant,,ENST00000528076,;MTNR1B,3_prime_UTR_variant,,ENST00000532482,;	uc001pdk.1	c.312C>T	318/1565	2	2			c.312C>T						11	SNP	c.(310-312)GAC>GAT	42	42			ovary(1)|central_nervous_system(1)	2	Broad	melatonin receptor 1B		Ramelteon(DB00980)	92714701		0.567	ENSG00000134640	9770	g.chr11:92714701C>T	G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity							349.442901	KEEP	78	40	-1	108	65	78	40	-1	351.415179	108	65	0.40942	1	0	0	0	0	0	0	1	0	--	--		0	T				125	GBM-12-3649-TP	p.D104D	C	TCTTCTATGACGGCTGGGCCC	NM_005959	NP_005950	92714701	P49286	MTR1B_HUMAN	0			2	415	+	T	T		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	Silent	104			Extracellular (Potential).			
MTNR1B	0	broad.mit.edu	GRCh37	11	92714860	92714860	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-32-1970-01	TCGA-32-1970-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257068.2:c.471C>A	p.Thr157=	p.T157=	ENST00000257068	NM_005959.3	157	acC/acA	0			1			A	T	uc001pdk.1	protein_coding	YES	CCDS8290.1			471/1089									ovary(1)|central_nervous_system(1)	2	c.(469-471)ACC>ACA			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,Prints_domain:PR00857,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF190,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	melatonin receptor 1B	Ramelteon(DB00980)			ENSP00000257068		2-Feb									COSM430073	2-Feb	.		ENST00000257068	Transcript			G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	ENSG00000134640	g.chr11:92714860C>A	7464			LOW								--	--	1																																			1	1			p.T157T	NM_005959	NP_005950			1	MTR1B_HUMAN	MTNR1B	HGNC	P49286	MTR1B_HUMAN			Q8TEV7_HUMAN		2	574	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	UPI0000050408	157			Helical; Name=4; (Potential).		SNV	MTNR1B,synonymous_variant,p.=,ENST00000257068,NM_005959.3;MTNR1B,intron_variant,,ENST00000528076,;MTNR1B,3_prime_UTR_variant,,ENST00000532482,;	uc001pdk.1	c.471C>A	477/1565	1	1			c.471C>A						11	SNP	c.(469-471)ACC>ACA	50	50			ovary(1)|central_nervous_system(1)	2	Broad	melatonin receptor 1B		Ramelteon(DB00980)	92714860		0.572	ENSG00000134640	9770	g.chr11:92714860C>A	G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity							59.289069	KEEP	16	16	0.5	34	26	16	16	0.5	61.653309	34	26	0.310811	1	0	0	0	0	0	0	1	0	--	--		0	A				228	GBM-32-1970-TP	p.T157T	C	GCTGGCACACCCCTCTGCACA	NM_005959	NP_005950	92714860	P49286	MTR1B_HUMAN	0			2	574	+	A	A		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	Silent	157			Helical; Name=4; (Potential).			
MTOR	2475	broad.mit.edu	GRCh37	1	11174395	11174395	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0122-01	TCGA-06-0122-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361445.4:c.7280T>A	p.Leu2427Gln	p.L2427Q	ENST00000361445	NM_004958.3	2427	cTg/cAg	0			1			T	L/Q	uc001asd.2	protein_coding	YES	CCDS127.1			7280/7650									central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29	c.(7279-7281)CTG>CAG			PROSITE_profiles:PS50290,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF63,Pfam_domain:PF00454,Gene3D:1.10.1070.11,SMART_domains:SM00146,Superfamily_domains:SSF56112	FK506 binding protein 12-rapamycin associated				ENSP00000354558		53/58									COSM1185313	53/58	.		ENST00000361445	Transcript	1		cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	ENSG00000198793	g.chr1:11174395A>T	3942			MODERATE		2.57	medium	getma.org/?cm=msa&ty=f&p=MTOR_HUMAN&rb=2181&re=2431&var=L2427Q	NA	getma.org/?cm=var&var=hg19,1,11174395,A,T&fts=all	L2427Q	--	--	1																																		MTOR_uc001asc.2_Missense_Mutation_p.L632Q	1	1		probably_damaging(0.996)	p.L2427Q	NM_004958	NP_004949		deleterious(0)	1	MTOR_HUMAN	MTOR	HGNC	P42345	MTOR_HUMAN			Q96QW8_HUMAN,B1AKQ2_HUMAN,B1AKP8_HUMAN		53	7401	-			UPI000012ABD3	2427			PI3K/PI4K.		SNV	MTOR,missense_variant,p.Leu2427Gln,ENST00000361445,NM_004958.3;MTOR,missense_variant,p.Leu632Gln,ENST00000376838,;MTOR,missense_variant,p.Leu83Gln,ENST00000455339,;MTOR,non_coding_transcript_exon_variant,,ENST00000490931,;MTOR,non_coding_transcript_exon_variant,,ENST00000473471,;	uc001asd.2	c.7280T>A	7357/8677	1	1			c.7280T>A						1	SNP	c.(7279-7281)CTG>CAG	16	16			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29	Broad	FK506 binding protein 12-rapamycin associated			11174395		0.388	ENSG00000198793	9772	g.chr1:11174395A>T	cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity		p.L632R(ST486-Tumor)	1389		p.L632R(ST486-Tumor)	1389	76.78968	KEEP	18	13	-1	39	35	18	13	-1	80.152714	39	35	0.296703	1	0	0	0	0	1	0	0	0	--	--		0	T			MTOR_uc001asc.2_Missense_Mutation_p.L632Q	10	GBM-06-0122-TP	p.L2427Q	A	CCTCCAGTTCAGCAAGGGGTC	NM_004958	NP_004949	11174395	P42345	MTOR_HUMAN	0			53	7401	-	T	T			Missense_Mutation	2427			PI3K/PI4K.			
MTOR	0	broad.mit.edu	GRCh37	1	11190804	11190804	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361445.4:c.5395G>A	p.Glu1799Lys	p.E1799K	ENST00000361445	NM_004958.3	1799	Gaa/Aaa	0			1			T	E/K	uc001asd.2	protein_coding	YES	CCDS127.1			5395/7650									central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29	c.(5395-5397)GAA>AAA			PROSITE_profiles:PS51189,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF63,Pfam_domain:PF02259	FK506 binding protein 12-rapamycin associated				ENSP00000354558		39/58									COSM180789	39/58	.		ENST00000361445	Transcript	1		cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	ENSG00000198793	g.chr1:11190804C>T	3942			MODERATE		1.545	low	getma.org/?cm=msa&ty=f&p=MTOR_HUMAN&rb=1513&re=1908&var=E1799K	NA	getma.org/?cm=var&var=hg19,1,11190804,C,T&fts=all	E1799K	--	--	1																																		MTOR_uc001asc.2_Missense_Mutation_p.E4K	1	1		probably_damaging(0.996)	p.E1799K	NM_004958	NP_004949		tolerated(0.08)	1	MTOR_HUMAN	MTOR	HGNC	P42345	MTOR_HUMAN			Q96QW8_HUMAN,B1AKQ2_HUMAN,B1AKP8_HUMAN		39	5516	-			UPI000012ABD3	1799			FAT.		SNV	MTOR,missense_variant,p.Glu1799Lys,ENST00000361445,NM_004958.3;MTOR,missense_variant,p.Glu4Lys,ENST00000376838,;MTOR,downstream_gene_variant,,ENST00000495435,;	uc001asd.2	c.5395G>A	5472/8677	2	2			c.5395G>A						1	SNP	c.(5395-5397)GAA>AAA	45	45			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29	Broad	FK506 binding protein 12-rapamycin associated			11190804		0.493	ENSG00000198793	9772	g.chr1:11190804C>T	cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity		p.E4K(HEC59-Tumor)|p.E4K(HS683-Tumor)|p.E4K(SNU349-Tumor)	1389		p.E4K(HEC59-Tumor)|p.E4K(HS683-Tumor)|p.E4K(SNU349-Tumor)	1389	7.72013	KEEP	1	2	-1	4	4	1	2	-1	8.23228	4	4	0.272727	1	0	0	0	0	1	0	0	0	--	--		0	T			MTOR_uc001asc.2_Missense_Mutation_p.E4K	160	GBM-19-1790-TP	p.E1799K	C	AGCACAGCTTCGAAGTTCATC	NM_004958	NP_004949	11190804	P42345	MTOR_HUMAN	0			39	5516	-	T	T			Missense_Mutation	1799			FAT.			
MTSS1	0	broad.mit.edu	GRCh37	8	125568545	125568545	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-5135-01	TCGA-26-5135-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000518547.1:c.1332C>T	p.Thr444=	p.T444=	ENST00000518547	NM_014751.4	444	acC/acT	0			1			A	T	uc003yrk.2	protein_coding	YES	CCDS6353.1			1332/2268									ovary(1)	1	c.(1330-1332)ACC>ACT			hmmpanther:PTHR15708,hmmpanther:PTHR15708:SF10,Low_complexity_(Seg):seg	metastasis suppressor 1				ENSP00000429064		14-Dec	4.94E-05	9.73E-05				6.03E-05		6.11E-05	rs774073612,COSM3412744,COSM3412745	14-Dec	.		ENST00000518547	Transcript			actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	ENSG00000170873	g.chr8:125568545G>A	20443			LOW								--	--	1																																		NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_5'UTR|MTSS1_uc011lin.1_Silent_p.T218T|MTSS1_uc011lio.1_Silent_p.T334T|MTSS1_uc003yri.2_Silent_p.T162T|MTSS1_uc003yrj.2_Silent_p.T419T|MTSS1_uc003yrl.2_Silent_p.T448T	0,1,1	1			p.T444T	NM_014751	NP_055566			0,1,1	MTSS1_HUMAN	MTSS1	HGNC	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		E5RJX3_HUMAN		12	1866	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		UPI000019B3D8	444					SNV	MTSS1,synonymous_variant,p.=,ENST00000518547,NM_014751.4;MTSS1,synonymous_variant,p.=,ENST00000354184,;MTSS1,synonymous_variant,p.=,ENST00000378017,NM_001282974.1;MTSS1,synonymous_variant,p.=,ENST00000325064,NM_001282971.1;MTSS1,synonymous_variant,p.=,ENST00000524090,;MTSS1,synonymous_variant,p.=,ENST00000519168,;MTSS1,synonymous_variant,p.=,ENST00000395508,;MTSS1,synonymous_variant,p.=,ENST00000431961,;MTSS1,synonymous_variant,p.=,ENST00000523179,;NDUFB9,intron_variant,,ENST00000522532,;MTSS1,downstream_gene_variant,,ENST00000522118,;MTSS1,non_coding_transcript_exon_variant,,ENST00000523587,;MTSS1,non_coding_transcript_exon_variant,,ENST00000520094,;MTSS1,non_coding_transcript_exon_variant,,ENST00000522722,;NDUFB9,downstream_gene_variant,,ENST00000517830,;MTSS1,non_coding_transcript_exon_variant,,ENST00000520771,;	uc003yrk.2	c.1332C>T	1806/4944	2	2			c.1332C>T						8	SNP	c.(1330-1332)ACC>ACT	43	43			ovary(1)	1	Broad	metastasis suppressor 1			125568545		0.627	ENSG00000170873	9780	g.chr8:125568545G>A	actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	Esophageal Squamous(160;622 1893 3862 8546 12509)			Esophageal Squamous(160;622 1893 3862 8546 12509)			-6.525476	KEEP	1	2	-1	35	36	1	2	-1	6.639281	35	36	0.04918	1	0	0	0	0	0	0	1	0	--	--		0	A			NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_5'UTR|MTSS1_uc011lin.1_Silent_p.T218T|MTSS1_uc011lio.1_Silent_p.T334T|MTSS1_uc003yri.2_Silent_p.T162T|MTSS1_uc003yrj.2_Silent_p.T419T|MTSS1_uc003yrl.2_Silent_p.T448T	184	GBM-26-5135-TP	p.T444T	G	GGCCGCTGGCGGTAGTGGGTC	NM_014751	NP_055566	125568545	O43312	MTSS1_HUMAN	0	STAD - Stomach adenocarcinoma(47;0.00288)		12	1866	-	A	A	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		Silent	444						
MTTP	4547	broad.mit.edu	GRCh37	4	100534247	100534247	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01	TCGA-06-5415-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000457717.1:c.2167G>A	p.Asp723Asn	p.D723N	ENST00000457717	NM_000253.2	723	Gac/Aac	0			1			A	D/N	uc003hvc.3	protein_coding		CCDS3651.1			2167/2685									ovary(3)|central_nervous_system(1)	4	c.(2167-2169)GAC>AAC			hmmpanther:PTHR13024,hmmpanther:PTHR13024:SF1	microsomal triglyceride transfer protein large	Hesperetin(DB01094)			ENSP00000265517		15/18	8.24E-06		8.73E-05						rs371023325,COSM2153222	15/18	.		ENST00000265517	Transcript	1		lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	ENSG00000138823	g.chr4:100534247G>A	7467			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=MTP_HUMAN&rb=584&re=783&var=D723N	NA	getma.org/?cm=var&var=hg19,4,100534247,G,A&fts=all	D723N	--	--	1																																		MTTP_uc011cej.1_Missense_Mutation_p.D750N	0,1			possibly_damaging(0.863)	p.D723N	NM_000253	NP_000244		deleterious(0.02)	0,1	MTP_HUMAN	MTTP	HGNC	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)			16	2423	+			UPI000012F826	723					SNV	MTTP,missense_variant,p.Asp723Asn,ENST00000457717,NM_000253.2;MTTP,missense_variant,p.Asp723Asn,ENST00000265517,;MTTP,missense_variant,p.Asp750Asn,ENST00000511045,;RP11-766F14.1,intron_variant,,ENST00000508578,;	uc003hvc.3	c.2167G>A	2370/4037	2	2			c.2167G>A						4	SNP	c.(2167-2169)GAC>AAC	46	46			ovary(3)|central_nervous_system(1)	4	Broad	microsomal triglyceride transfer protein large		Hesperetin(DB01094)	100534247		0.338	ENSG00000138823	9782	g.chr4:100534247G>A	lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity							124.558341	KEEP	17	24	-1	32	27	17	24	-1	125.003849	32	27	0.427083	1	0	0	0	0	1	0	0	0	--	--		0	A			MTTP_uc011cej.1_Missense_Mutation_p.D750N	98	GBM-06-5415-TP	p.D723N	G	AGCATCTGGCGACCCTATCAG	NM_000253	NP_000244	100534247	P55157	MTP_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	16	2423	+	A	A			Missense_Mutation	723						
MTURN	222166	broad.mit.edu	GRCh37	7	30174862	30174862	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324453.8:c.110C>T	p.Pro37Leu	p.P37L	ENST00000324453	NM_152793.2	37	cCc/cTc	0			1			T	P/L	uc011kab.1	protein_coding	YES	CCDS5425.2			110/396										0	c.(109-111)CCC>CTC			Pfam_domain:PF15167,hmmpanther:PTHR32008	hypothetical protein LOC222166				ENSP00000324204		3-Jan									COSM3411971	3-Jan	.		ENST00000324453	Transcript						ENSG00000180354	g.chr7:30174862C>T	25457			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=CG041_HUMAN&rb=1&re=129&var=P37L	NA	getma.org/?cm=var&var=hg19,7,30174862,C,T&fts=all	P37L	--	--	1																																		C7orf41_uc010kvr.1_RNA|C7orf41_uc003tar.1_Missense_Mutation_p.P37L	1	1		probably_damaging(0.958)	p.P37L	NM_152793	NP_690006		deleterious_low_confidence(0.01)	1	CG041_HUMAN	MTURN	HGNC	Q8N3F0	CG041_HUMAN			B4DH90_HUMAN		1	311	+			UPI0000073903	37					SNV	MTURN,missense_variant,p.Pro37Leu,ENST00000324453,NM_152793.2;MTURN,missense_variant,p.Pro37Leu,ENST00000415604,;MTURN,missense_variant,p.Pro37Leu,ENST00000409688,;PLEKHA8,downstream_gene_variant,,ENST00000396259,;MTURN,upstream_gene_variant,,ENST00000434060,;	uc011kab.1	c.110C>T	437/5937	2	2			c.110C>T						7	SNP	c.(109-111)CCC>CTC	45	45				0	Broad	hypothetical protein LOC222166			30174862		0.642	ENSG00000180354	2342	g.chr7:30174862C>T										9.85883	KEEP	6	4	-1	17	7	6	4	-1	11.95377	17	7	0.2	1	0	0	0	0	1	0	0	0	--	--		0	T			C7orf41_uc010kvr.1_RNA|C7orf41_uc003tar.1_Missense_Mutation_p.P37L	62	GBM-06-0649-TP	p.P37L	C	TACGCCGACCCCGGCGTCTCC	NM_152793	NP_690006	30174862	Q8N3F0	CG041_HUMAN	0			1	311	+	T	T			Missense_Mutation	37						
MTUS2	23281	broad.mit.edu	GRCh37	13	29599308	29599308	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0152-01	TCGA-06-0152-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000431530.3:c.503T>C	p.Val168Ala	p.V168A	ENST00000431530	NM_001033602.2	168	gTt/gCt	0			1			C	V/A	uc001usl.3	protein_coding	YES	CCDS45022.1			503/4140										0	c.(502-504)GTT>GCT			hmmpanther:PTHR24200:SF8,hmmpanther:PTHR24200	hypothetical protein LOC23281 isoform a				ENSP00000392057		14-Jan									COSM3399328	14-Jan	.		ENST00000431530	Transcript				cytoplasm|microtubule	microtubule binding|protein homodimerization activity	ENSG00000132938	g.chr13:29599308T>C	20595			MODERATE		-0.41	neutral	getma.org/?cm=msa&ty=f&p=MTUS2_HUMAN&rb=1&re=1063&var=V158A	NA	getma.org/?cm=var&var=hg19,13,29599308,T,C&fts=all	V158A	--	--	1																																			1	1		benign(0.015)	p.V168A	NM_001033602	NP_001028774		tolerated(0.42)	1		MTUS2	HGNC	Q5JR59	MTUS2_HUMAN			J3KQA9_HUMAN,B4DWQ4_HUMAN		1	561	+			UPI0000F734AC	158					SNV	MTUS2,missense_variant,p.Val168Ala,ENST00000431530,NM_001033602.2;	uc001usl.3	c.503T>C	561/4747	4	4			c.503T>C						13	SNP	c.(502-504)GTT>GCT	35	35				0	Broad	hypothetical protein LOC23281 isoform a			29599308		0.507	ENSG00000132938	9784	g.chr13:29599308T>C		cytoplasm|microtubule	microtubule binding|protein homodimerization activity			344			344	53.004039	KEEP	10	15	-1	67	45	10	15	-1	64.097929	67	45	0.181034	1	0	0	0	0	1	0	0	0	--	--		0	C				25	GBM-06-0152-TP	p.V168A	T	CCCCGGCATGTTCCCAAGGAT	NM_001033602	NP_001028774	29599308	Q5JR59	MTUS2_HUMAN	0			1	561	+	C	C			Missense_Mutation	158						
MTUS2	0	broad.mit.edu	GRCh37	13	29599206	29599206	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01	TCGA-14-1395-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000431530.3:c.401C>T	p.Thr134Met	p.T134M	ENST00000431530	NM_001033602.2	134	aCg/aTg	0			1			T	T/M	uc001usl.3	protein_coding	YES	CCDS45022.1			401/4140										0	c.(400-402)ACG>ATG			hmmpanther:PTHR24200:SF8,hmmpanther:PTHR24200	hypothetical protein LOC23281 isoform a				ENSP00000392057		14-Jan	2.48E-05	0.000102		0.000116		1.50E-05			rs745418801,COSM3399327	14-Jan	.		ENST00000431530	Transcript				cytoplasm|microtubule	microtubule binding|protein homodimerization activity	ENSG00000132938	g.chr13:29599206C>T	20595			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=MTUS2_HUMAN&rb=1&re=1063&var=T124M	NA	getma.org/?cm=var&var=hg19,13,29599206,C,T&fts=all	T124M	--	--	1																																			0,1	1		benign(0.003)	p.T134M	NM_001033602	NP_001028774		tolerated(0.09)	0,1		MTUS2	HGNC	Q5JR59	MTUS2_HUMAN			J3KQA9_HUMAN,B4DWQ4_HUMAN		1	459	+			UPI0000F734AC	124					SNV	MTUS2,missense_variant,p.Thr134Met,ENST00000431530,NM_001033602.2;	uc001usl.3	c.401C>T	459/4747	2	2			c.401C>T						13	SNP	c.(400-402)ACG>ATG	23	23				0	Broad	hypothetical protein LOC23281 isoform a			29599206		0.502	ENSG00000132938	9784	g.chr13:29599206C>T		cytoplasm|microtubule	microtubule binding|protein homodimerization activity			344			344	18.238639	KEEP	9	6	-1	56	44	9	6	-1	31.29344	56	44	0.131313	1	0	0	0	0	1	0	0	0	--	--		0	T				144	GBM-14-1395-TP	p.T134M	C	CTGCAGACCACGCGGAGTATT	NM_001033602	NP_001028774	29599206	Q5JR59	MTUS2_HUMAN	0			1	459	+	T	T			Missense_Mutation	124						
MTUS2	0	broad.mit.edu	GRCh37	13	29675102	29675102	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01	TCGA-16-0861-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000431530.3:c.2669C>T	p.Ala890Val	p.A890V	ENST00000431530	NM_001033602.2	890	gCc/gTc	0			1			T	A/V	uc001usl.3	protein_coding	YES	CCDS45022.1			2669/4140										0	c.(2668-2670)GCC>GTC			hmmpanther:PTHR24200:SF8,hmmpanther:PTHR24200	hypothetical protein LOC23281 isoform a				ENSP00000392057		14-Mar									COSM3399329	14-Mar	.		ENST00000431530	Transcript				cytoplasm|microtubule	microtubule binding|protein homodimerization activity	ENSG00000132938	g.chr13:29675102C>T	20595			MODERATE		0.57	neutral	getma.org/?cm=msa&ty=f&p=MTUS2_HUMAN&rb=1&re=1063&var=A880V	NA	getma.org/?cm=var&var=hg19,13,29675102,C,T&fts=all	A880V	--	--	1																																			1	1		benign(0.009)	p.A890V	NM_001033602	NP_001028774		tolerated(0.32)	1		MTUS2	HGNC	Q5JR59	MTUS2_HUMAN			J3KQA9_HUMAN,B4DWQ4_HUMAN		3	2727	+			UPI0000F734AC	880			Sufficient for interaction with KIF2C.|Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.		SNV	MTUS2,missense_variant,p.Ala890Val,ENST00000431530,NM_001033602.2;MTUS2,non_coding_transcript_exon_variant,,ENST00000255289,;	uc001usl.3	c.2669C>T	2727/4747	2	2			c.2669C>T						13	SNP	c.(2668-2670)GCC>GTC	48	48				0	Broad	hypothetical protein LOC23281 isoform a			29675102		0.582	ENSG00000132938	9784	g.chr13:29675102C>T		cytoplasm|microtubule	microtubule binding|protein homodimerization activity			344			344	10.427445	KEEP	1	2	-1	0	1	1	2	-1	10.65407	0	1	0.75	1	0	0	0	0	1	0	0	0	--	--		0	T				156	GBM-16-0861-TP	p.A890V	C	GGCCGGCCAGCCACCCGTAAG	NM_001033602	NP_001028774	29675102	Q5JR59	MTUS2_HUMAN	0			3	2727	+	T	T			Missense_Mutation	880			Sufficient for interaction with KIF2C.|Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.			
MTX3	0	broad.mit.edu	GRCh37	5	79279592	79279592	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000512528.1:c.854C>T	p.Pro285Leu	p.P285L	ENST00000512528		285	cCt/cTt	0			1			A	P/L	uc010jag.2	protein_coding					854/939										0	c.(853-855)CCT>CTT			PIRSF_domain:PIRSF038150,hmmpanther:PTHR12289,hmmpanther:PTHR12289:SF30	metaxin 3				ENSP00000424798		9-Sep									COSM3410443	9-Sep	.		ENST00000512528	Transcript			protein targeting to mitochondrion	mitochondrial outer membrane		ENSG00000177034	g.chr5:79279592G>A	24812			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=MTX3_HUMAN&rb=241&re=312&var=P285L	NA	getma.org/?cm=var&var=hg19,5,79279592,G,A&fts=all	P285L	--	--	1																																		MTX3_uc010jah.2_3'UTR|MTX3_uc003kge.3_Missense_Mutation_p.P224L	1			probably_damaging(1)	p.P285L	NM_001010891	NP_001010891		deleterious_low_confidence(0)	1	MTX3_HUMAN	MTX3	HGNC	Q5HYI7	MTX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)			9	881	-		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	UPI000022C843	285					SNV	MTX3,missense_variant,p.Pro224Leu,ENST00000512560,NM_001167741.1;MTX3,missense_variant,p.Pro285Leu,ENST00000512528,;MTX3,3_prime_UTR_variant,,ENST00000509852,NM_001010891.4;	uc010jag.2	c.854C>T	875/1280	2	2			c.854C>T						5	SNP	c.(853-855)CCT>CTT	33	33				0	Broad	metaxin 3			79279592		0.463	ENSG00000177034	9787	g.chr5:79279592G>A	protein targeting to mitochondrion	mitochondrial outer membrane								-30.550158	KEEP	2	4	-1	84	101	2	4	-1	8.911614	84	101	0.025316	1	0	0	0	0	1	0	0	0	--	--		0	A			MTX3_uc010jah.2_3'UTR|MTX3_uc003kge.3_Missense_Mutation_p.P224L	160	GBM-19-1790-TP	p.P285L	G	AGGAAGCTGAGGGCTTTGGCG	NM_001010891	NP_001010891	79279592	Q5HYI7	MTX3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)	9	881	-	A	A		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	Missense_Mutation	285						
MUC1	4582	broad.mit.edu	GRCh37	1	155161953	155161953	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-1804-01	TCGA-06-1804-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368395.1:c.180A>G	p.Val60=	p.V60=	ENST00000368395	NM_001204285.1	60	gtA/gtG	0			1			C	V	uc010pft.1	protein_coding	YES	CCDS55640.1			180/1428	T		IGH@		B-NHL				large_intestine(1)|pancreas(1)|breast(1)|skin(1)	4	c.(178-180)GTA>GTG			Low_complexity_(Seg):seg	SubName: Full=MUC1 isoform M13;				ENSP00000357380		8-Feb									COSM529115	8-Feb	.		ENST00000368395	Transcript	1			apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding	ENSG00000185499	g.chr1:155161953T>C	7508			LOW								--	--	1																																		RAG1AP1_uc010pey.1_Intron|MUC1_uc001fhy.2_5'Flank|MUC1_uc001fhz.2_5'Flank|MUC1_uc010pfb.1_Intron|MUC1_uc010pfc.1_Intron|MUC1_uc009wph.2_Intron|MUC1_uc010pfd.1_Intron|MUC1_uc010pfe.1_Intron|MUC1_uc010pff.1_Intron|MUC1_uc009wpi.2_Intron|MUC1_uc010pfg.1_Intron|MUC1_uc010pfh.1_Intron|MUC1_uc010pfi.1_Intron|MUC1_uc010pfj.1_Intron|MUC1_uc010pfk.1_Intron|MUC1_uc010pfl.1_Intron|MUC1_uc001fin.2_Intron|MUC1_uc009wpk.2_Intron|MUC1_uc001fip.2_Intron|MUC1_uc009wqg.2_Intron|MUC1_uc009wpo.2_Intron|MUC1_uc009wps.2_Intron|MUC1_uc009wpt.2_Intron|MUC1_uc001fic.2_Intron|MUC1_uc009wpu.2_Intron|MUC1_uc009wpq.2_Intron|MUC1_uc009wpv.2_Intron|MUC1_uc001fim.2_Intron|MUC1_uc001fib.2_Intron|MUC1_uc009wpw.2_Intron|MUC1_uc001fie.2_Intron|MUC1_uc009wpr.2_Intron|MUC1_uc001fig.2_Intron|MUC1_uc001fif.2_Intron|MUC1_uc009wpx.2_Intron|MUC1_uc001fid.2_Intron|MUC1_uc009wpj.2_Intron|MUC1_uc001fij.2_Intron|MUC1_uc009wpy.2_Intron|MUC1_uc010pfm.1_Intron|MUC1_uc001fiq.2_Intron|MUC1_uc009wpz.2_Intron|MUC1_uc010pfn.1_Intron|MUC1_uc009wqa.2_Intron|MUC1_uc010pfo.1_Intron|MUC1_uc010pfp.1_Intron|MUC1_uc001fii.2_Intron|MUC1_uc001fih.2_Intron|MUC1_uc001fia.2_Intron|MUC1_uc009wqc.2_Intron|MUC1_uc009wqd.2_Intron|MUC1_uc009wqb.2_Intron|MUC1_uc010pfq.1_Intron|MUC1_uc010pfr.1_Intron|MUC1_uc001fit.2_Intron|MUC1_uc009wqe.2_Intron|MUC1_uc001fil.2_Intron|MUC1_uc009wpm.2_Intron|MUC1_uc009wpp.2_Intron|MUC1_uc010pfs.1_Intron|MUC1_uc001fik.2_Intron|MUC1_uc001fio.2_Intron|MUC1_uc009wqf.2_Intron|MUC1_uc009wpl.2_Intron|MUC1_uc009wpn.2_Intron|MUC1_uc001fis.1_Intron|uc009wqh.2_5'Flank|MUC1_uc001fiv.1_Silent_p.V69V|MUC1_uc001fiw.1_Silent_p.V60V	1	1			p.V60V					1		MUC1	HGNC	P15941	MUC1_HUMAN	Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Q9UMI8_HUMAN,Q7Z545_HUMAN,Q14877_HUMAN,B1AVQ5_HUMAN		2	246	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		UPI0000038A9F	60			Extracellular (Potential).		SNV	MUC1,synonymous_variant,p.=,ENST00000368395,NM_001204285.1,NM_001204286.1;MUC1,intron_variant,,ENST00000457295,;MUC1,intron_variant,,ENST00000338684,;MUC1,intron_variant,,ENST00000368392,NM_001018017.2,NM_001018016.2,NM_001204288.1,NM_001204287.1;MUC1,intron_variant,,ENST00000368393,NM_001204293.1;MUC1,intron_variant,,ENST00000438413,NM_001204289.1,NM_001204291.1,NM_001204290.1;MUC1,intron_variant,,ENST00000337604,NM_002456.5;MUC1,intron_variant,,ENST00000368390,;MUC1,intron_variant,,ENST00000368398,NM_001204292.1,NM_001204294.1;MUC1,intron_variant,,ENST00000343256,NM_001044390.2,NM_001204296.1;MUC1,intron_variant,,ENST00000368389,;MUC1,intron_variant,,ENST00000342482,;MUC1,intron_variant,,ENST00000368396,NM_001044392.2;TRIM46,downstream_gene_variant,,ENST00000392451,;THBS3,downstream_gene_variant,,ENST00000368378,NM_007112.4,NM_001252607.1;TRIM46,downstream_gene_variant,,ENST00000368382,NM_001256600.1,NM_001256599.1,NM_025058.4,NM_001256601.1;TRIM46,downstream_gene_variant,,ENST00000334634,NM_001282378.1,NM_001256601.1;THBS3,downstream_gene_variant,,ENST00000541990,;THBS3,downstream_gene_variant,,ENST00000457183,NM_001252608.1;THBS3,downstream_gene_variant,,ENST00000541576,;RP11-201K10.3,upstream_gene_variant,,ENST00000473363,;MIR92B,upstream_gene_variant,,ENST00000607575,;RP11-263K19.4,upstream_gene_variant,,ENST00000447623,;MUC1,non_coding_transcript_exon_variant,,ENST00000494844,;MUC1,intron_variant,,ENST00000462215,;MUC1,intron_variant,,ENST00000498431,;MUC1,intron_variant,,ENST00000471283,;MUC1,intron_variant,,ENST00000467134,;TRIM46,downstream_gene_variant,,ENST00000468878,;MUC1,upstream_gene_variant,,ENST00000462317,;MUC1,upstream_gene_variant,,ENST00000468978,;MUC1,upstream_gene_variant,,ENST00000485118,;MUC1,downstream_gene_variant,,ENST00000466913,;THBS3,downstream_gene_variant,,ENST00000469769,;THBS3,downstream_gene_variant,,ENST00000498500,;	uc010pft.1	c.180A>G	252/1811	3	3			c.180A>G	T		IGH@		B-NHL	1	SNP	c.(178-180)GTA>GTG	55	55			large_intestine(1)|pancreas(1)|breast(1)|skin(1)	4	Broad	SubName: Full=MUC1 isoform M13;			155161953		0.587	ENSG00000185499	9788	g.chr1:155161953T>C		apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			107			107	395.651144	KEEP	62	79	-1	81	97	62	79	-1	396.506977	81	97	0.44	1	0	0	0	0	0	0	1	0	--	--		0	C			RAG1AP1_uc010pey.1_Intron|MUC1_uc001fhy.2_5'Flank|MUC1_uc001fhz.2_5'Flank|MUC1_uc010pfb.1_Intron|MUC1_uc010pfc.1_Intron|MUC1_uc009wph.2_Intron|MUC1_uc010pfd.1_Intron|MUC1_uc010pfe.1_Intron|MUC1_uc010pff.1_Intron|MUC1_uc009wpi.2_Intron|MUC1_uc010pfg.1_Intron|MUC1_uc010pfh.1_Intron|MUC1_uc010pfi.1_Intron|MUC1_uc010pfj.1_Intron|MUC1_uc010pfk.1_Intron|MUC1_uc010pfl.1_Intron|MUC1_uc001fin.2_Intron|MUC1_uc009wpk.2_Intron|MUC1_uc001fip.2_Intron|MUC1_uc009wqg.2_Intron|MUC1_uc009wpo.2_Intron|MUC1_uc009wps.2_Intron|MUC1_uc009wpt.2_Intron|MUC1_uc001fic.2_Intron|MUC1_uc009wpu.2_Intron|MUC1_uc009wpq.2_Intron|MUC1_uc009wpv.2_Intron|MUC1_uc001fim.2_Intron|MUC1_uc001fib.2_Intron|MUC1_uc009wpw.2_Intron|MUC1_uc001fie.2_Intron|MUC1_uc009wpr.2_Intron|MUC1_uc001fig.2_Intron|MUC1_uc001fif.2_Intron|MUC1_uc009wpx.2_Intron|MUC1_uc001fid.2_Intron|MUC1_uc009wpj.2_Intron|MUC1_uc001fij.2_Intron|MUC1_uc009wpy.2_Intron|MUC1_uc010pfm.1_Intron|MUC1_uc001fiq.2_Intron|MUC1_uc009wpz.2_Intron|MUC1_uc010pfn.1_Intron|MUC1_uc009wqa.2_Intron|MUC1_uc010pfo.1_Intron|MUC1_uc010pfp.1_Intron|MUC1_uc001fii.2_Intron|MUC1_uc001fih.2_Intron|MUC1_uc001fia.2_Intron|MUC1_uc009wqc.2_Intron|MUC1_uc009wqd.2_Intron|MUC1_uc009wqb.2_Intron|MUC1_uc010pfq.1_Intron|MUC1_uc010pfr.1_Intron|MUC1_uc001fit.2_Intron|MUC1_uc009wqe.2_Intron|MUC1_uc001fil.2_Intron|MUC1_uc009wpm.2_Intron|MUC1_uc009wpp.2_Intron|MUC1_uc010pfs.1_Intron|MUC1_uc001fik.2_Intron|MUC1_uc001fio.2_Intron|MUC1_uc009wqf.2_Intron|MUC1_uc009wpl.2_Intron|MUC1_uc009wpn.2_Intron|MUC1_uc001fis.1_Intron|uc009wqh.2_5'Flank|MUC1_uc001fiv.1_Silent_p.V69V|MUC1_uc001fiw.1_Silent_p.V60V	79	GBM-06-1804-TP	p.V60V	T	GGCTGGAGAGTACGCTGCTGG			155161953	P15941	MUC1_HUMAN	0	Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	246	-	C	C	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Silent	60			Extracellular (Potential).			
MUC16	94025	broad.mit.edu	GRCh37	19	9046871	9046871	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01	TCGA-02-2485-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.34760C>T	p.Thr11587Met	p.T11587M	ENST00000397910	NM_024690.2	11587	aCg/aTg	0			1			A	T/M	uc002mkp.2	protein_coding	YES	CCDS54212.1			34760/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(34759-34761)ACG>ATG			hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0	mucin 16				ENSP00000381008		May-84	0.000157	0.000102	8.66E-05			0.000225		0.000121	rs763078522,COSM3404839,COSM3404838	May-84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9046871G>A	15582			MODERATE		1.175	low	getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=11464&re=11663&var=T11589M	NA	getma.org/?cm=var&var=hg19,19,9046871,G,A&fts=all	T11589M	--	--	1																																			0,1,1	1		benign(0.066)	p.T11587M	NM_024690	NP_078966			0,1,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		5	34964	-			UPI000065CA24	11589			Thr-rich.|Extracellular (Potential).		SNV	MUC16,missense_variant,p.Thr11587Met,ENST00000397910,NM_024690.2;	uc002mkp.2	c.34760C>T	34964/43816	2	2			c.34760C>T						19	SNP	c.(34759-34761)ACG>ATG	26	26			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9046871		0.522	ENSG00000181143	9791	g.chr19:9046871G>A	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							130.775885	KEEP	26	25	-1	57	45	26	25	-1	134.625885	57	45	0.326389	1	0	0	0	0	1	0	0	0	--	--		0	A				7	GBM-02-2485-TP	p.T11587M	G	CCCAGAAACCGTTGTGCTGGT	NM_024690	NP_078966	9046871	Q8WXI7	MUC16_HUMAN	0			5	34964	-	A	A			Missense_Mutation	11589			Thr-rich.|Extracellular (Potential).			
MUC16	94025	broad.mit.edu	GRCh37	19	9087317	9087317	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0125-01	TCGA-06-0125-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.4498T>C	p.Ser1500Pro	p.S1500P	ENST00000397910	NM_024690.2	1500	Tca/Cca	0			1			G	S/P	uc002mkp.2	protein_coding	YES	CCDS54212.1			4498/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(4498-4500)TCA>CCA				mucin 16				ENSP00000381008		Jan-84									COSM3404903,COSM3404902	Jan-84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9087317A>G	15582			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=1004&re=3903&var=S1500P	NA	getma.org/?cm=var&var=hg19,19,9087317,A,G&fts=all	S1500P	--	--	1																																			1,1	1		unknown(0)	p.S1500P	NM_024690	NP_078966			1,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		1	4702	-			UPI000065CA24	1500			Thr-rich.|Extracellular (Potential).		SNV	MUC16,missense_variant,p.Ser1500Pro,ENST00000397910,NM_024690.2;	uc002mkp.2	c.4498T>C	4702/43816	4	4			c.4498T>C						19	SNP	c.(4498-4500)TCA>CCA	30	30			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9087317		0.428	ENSG00000181143	9791	g.chr19:9087317A>G	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							501.394966	KEEP	91	64	-1	159	157	91	64	-1	511.015967	159	157	0.341067	1	0	0	0	0	1	0	0	0	--	--		0	G				12	GBM-06-0125-TP	p.S1500P	A	TCTGACTTTGAAAGTTCATGA	NM_024690	NP_078966	9087317	Q8WXI7	MUC16_HUMAN	0			1	4702	-	G	G			Missense_Mutation	1500			Thr-rich.|Extracellular (Potential).			
MUC16	94025	broad.mit.edu	GRCh37	19	9067989	9067989	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0152-01	TCGA-06-0152-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.19457T>C	p.Leu6486Ser	p.L6486S	ENST00000397910	NM_024690.2	6486	tTg/tCg	0			1			G	L/S	uc002mkp.2	protein_coding	YES	CCDS54212.1			19457/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(19456-19458)TTG>TCG				mucin 16				ENSP00000381008		Mar-84									COSM3404872,COSM3404873,COSM3404871	Mar-84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9067989A>G	15582			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=5680&re=6717&var=L6488S	NA	getma.org/?cm=var&var=hg19,19,9067989,A,G&fts=all	L6488S	--	--	1																																			1,1,1	1		unknown(0)	p.L6486S	NM_024690	NP_078966			1,1,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		3	19661	-			UPI000065CA24	6488			Thr-rich.|Extracellular (Potential).		SNV	MUC16,missense_variant,p.Leu6486Ser,ENST00000397910,NM_024690.2;	uc002mkp.2	c.19457T>C	19661/43816	4	4			c.19457T>C						19	SNP	c.(19456-19458)TTG>TCG	25	25			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9067989		0.488	ENSG00000181143	9791	g.chr19:9067989A>G	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							160.091239	KEEP	32	29	-1	56	61	32	29	-1	163.531978	56	61	0.347305	1	0	0	0	0	1	0	0	0	--	--		0	G				25	GBM-06-0152-TP	p.L6486S	A	AAGAGTGGACAAATCTAATTG	NM_024690	NP_078966	9067989	Q8WXI7	MUC16_HUMAN	0			3	19661	-	G	G			Missense_Mutation	6488			Thr-rich.|Extracellular (Potential).			
MUC16	94025	broad.mit.edu	GRCh37	19	9063659	9063659	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-06-0157-01	TCGA-06-0157-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.23787T>A	p.Ser7929=	p.S7929=	ENST00000397910	NM_024690.2	7929	tcT/tcA	0			1			T	S	uc002mkp.2	protein_coding	YES	CCDS54212.1			23787/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(23785-23787)TCT>TCA			Low_complexity_(Seg):seg	mucin 16				ENSP00000381008		Mar-84									COSM3404866,COSM3404867,COSM3404865	Mar-84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9063659A>T	15582			LOW								--	--	1																																			1,1,1	1			p.S7929S	NM_024690	NP_078966			1,1,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		3	23991	-			UPI000065CA24	7931			Ser-rich.|Thr-rich.|Extracellular (Potential).		SNV	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;	uc002mkp.2	c.23787T>A	23991/43816	2	2			c.23787T>A						19	SNP	c.(23785-23787)TCT>TCA	29	29			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9063659		0.458	ENSG00000181143	9791	g.chr19:9063659A>T	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							184.06498	KEEP	39	34	-1	48	58	39	34	-1	185.024847	48	58	0.415584	1	0	0	0	0	0	0	1	0	--	--		0	T				28	GBM-06-0157-TP	p.S7929S	A	TCATTGTCAAAGAGGTTGTGC	NM_024690	NP_078966	9063659	Q8WXI7	MUC16_HUMAN	0			3	23991	-	T	T			Silent	7931			Ser-rich.|Thr-rich.|Extracellular (Potential).			
MUC16	94025	broad.mit.edu	GRCh37	19	9067788	9067788	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0169-01	TCGA-06-0169-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.19658del	p.Thr6553LysfsTer40	p.T6553Kfs*40	ENST00000397910	NM_024690.2	6553	aCa/aa	0			1			-	T/X	uc002mkp.2	protein_coding	YES	CCDS54212.1			19658/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(19657-19659)ACAfs				mucin 16				ENSP00000381008		Mar-84										Mar-84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9067788delG	15582			HIGH								--	--	1																																				1			p.T6553fs	NM_024690	NP_078966					MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		3	19862	-			UPI000065CA24	6555			Thr-rich.|Extracellular (Potential).		deletion	MUC16,frameshift_variant,p.Thr6553LysfsTer40,ENST00000397910,NM_024690.2;	uc002mkp.2	c.19658delC	19862/43816	5	5			c.19658delC						19	DEL	c.(19657-19659)ACAfs	25	25			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9067788		0.473	ENSG00000181143	9791	g.chr19:9067788delG	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding																				0.23	1	1	0	1	0	0	0	0	0	--	--		0	-				34	GBM-06-0169-TP	p.T6553fs	G	CAGCATATCTGTGGTCTTCAC	NM_024690	NP_078966	9067788	Q8WXI7	MUC16_HUMAN	0			3	19862	-	-	-			Frame_Shift_Del	6555			Thr-rich.|Extracellular (Potential).			
MUC16	94025	broad.mit.edu	GRCh37	19	9069201	9069201	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01	TCGA-06-0173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.18245G>A	p.Ser6082Asn	p.S6082N	ENST00000397910	NM_024690.2	6082	aGc/aAc	0			1			T	S/N	uc002mkp.2	protein_coding	YES	CCDS54212.1			18245/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(18244-18246)AGC>AAC				mucin 16				ENSP00000381008		Mar-84									COSM2700295,COSM2700296,COSM2700294	Mar-84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9069201C>T	15582			MODERATE		1.01	low	getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=5680&re=6717&var=S6084N	NA	getma.org/?cm=var&var=hg19,19,9069201,C,T&fts=all	S6084N	--	--	1																																			1,1,1	1		unknown(0)	p.S6082N	NM_024690	NP_078966			1,1,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		3	18449	-			UPI000065CA24	6084			Thr-rich.|Extracellular (Potential).		SNV	MUC16,missense_variant,p.Ser6082Asn,ENST00000397910,NM_024690.2;	uc002mkp.2	c.18245G>A	18449/43816	2	2			c.18245G>A						19	SNP	c.(18244-18246)AGC>AAC	25	25			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9069201		0.498	ENSG00000181143	9791	g.chr19:9069201C>T	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							69.60925	KEEP	12	17	-1	39	29	12	17	-1	73.056204	39	29	0.292135	1	0	0	0	0	1	0	0	0	--	--		0	T				36	GBM-06-0173-TP	p.S6082N	C	CAGGGCGGTGCTGTCCTCTTT	NM_024690	NP_078966	9069201	Q8WXI7	MUC16_HUMAN	0			3	18449	-	T	T			Missense_Mutation	6084			Thr-rich.|Extracellular (Potential).			
MUC16	94025	broad.mit.edu	GRCh37	19	9045842	9045842	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0189-01	TCGA-06-0189-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.35789G>C	p.Gly11930Ala	p.G11930A	ENST00000397910	NM_024690.2	11930	gGa/gCa	0			1			G	G/A	uc002mkp.2	protein_coding	YES	CCDS54212.1			35789/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(35788-35790)GGA>GCA			hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0	mucin 16				ENSP00000381008		May-84									COSM3404837,COSM3404836	May-84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9045842C>G	15582			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=11864&re=12063&var=G11932A	NA	getma.org/?cm=var&var=hg19,19,9045842,C,G&fts=all	G11932A	--	--	1																																			1,1	1		benign(0)	p.G11930A	NM_024690	NP_078966			1,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		5	35993	-			UPI000065CA24	11932			Thr-rich.|Extracellular (Potential).		SNV	MUC16,missense_variant,p.Gly11930Ala,ENST00000397910,NM_024690.2;	uc002mkp.2	c.35789G>C	35993/43816	3	3			c.35789G>C						19	SNP	c.(35788-35790)GGA>GCA	64	64			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9045842		0.493	ENSG00000181143	9791	g.chr19:9045842C>G	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							-36.499575	KEEP	2	3	-1	120	88	2	3	-1	10.65097	120	88	0.026316	1	0	0	0	0	1	0	0	0	--	--		0	G				42	GBM-06-0189-TP	p.G11930A	C	TTCTGGGGGTCCAACTGAAGT	NM_024690	NP_078966	9045842	Q8WXI7	MUC16_HUMAN	0			5	35993	-	G	G			Missense_Mutation	11932			Thr-rich.|Extracellular (Potential).			
MUC16	94025	broad.mit.edu	GRCh37	19	9047027	9047027	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs111231164		TCGA-06-0209-01	TCGA-06-0209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.34604C>T	p.Thr11535Met	p.T11535M	ENST00000397910	NM_024690.2	11535	aCg/aTg	0			1			A	T/M	uc002mkp.2	protein_coding	YES	CCDS54212.1			34604/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(34603-34605)ACG>ATG			hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0	mucin 16				ENSP00000381008		May-84	4.13E-05			0.000116		4.50E-05	0.00111		rs111231164,COSM166678,COSM166679	May-84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9047027G>A	15582			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=11464&re=11663&var=T11537M	NA	getma.org/?cm=var&var=hg19,19,9047027,G,A&fts=all	T11537M	--	--	1																																			0,1,1	1		benign(0.042)	p.T11535M	NM_024690	NP_078966			0,1,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		5	34808	-			UPI000065CA24	11537			Thr-rich.|Extracellular (Potential).		SNV	MUC16,missense_variant,p.Thr11535Met,ENST00000397910,NM_024690.2;	uc002mkp.2	c.34604C>T	34808/43816	2	2			c.34604C>T						19	SNP	c.(34603-34605)ACG>ATG	30	30			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9047027		0.512	ENSG00000181143	9791	g.chr19:9047027G>A	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							59.784332	KEEP	13	16	-1	66	55	13	16	-1	70.456558	66	55	0.20155	1	0	0	0	0	1	0	0	0	--	--		0	A				46	GBM-06-0209-TP	p.T11535M	G	GATAGTTGTCGTTGAAACAGC	NM_024690	NP_078966	9047027	Q8WXI7	MUC16_HUMAN	0			5	34808	-	A	A			Missense_Mutation	11537			Thr-rich.|Extracellular (Potential).			
MUC16	94025	broad.mit.edu	GRCh37	19	8976821	8976821	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0211-01	TCGA-06-0211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.42245C>T	p.Thr14082Ile	p.T14082I	ENST00000397910	NM_024690.2	14082	aCc/aTc	0			1			A	T/I	uc002mkp.2	protein_coding	YES	CCDS54212.1			42245/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(42244-42246)ACC>ATC			Superfamily_domains:0047452,Gene3D:1ivzA00,Pfam_domain:PF01390,PROSITE_profiles:PS50024,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0	mucin 16				ENSP00000381008		73/84									COSM3404820	73/84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:8976821G>A	15582			MODERATE		3.02	medium	getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=14102&re=14214&var=T14112I	getma.org/pdb.php?prot=MUC16_HUMAN&from=14102&to=14214&var=T14112I	getma.org/?cm=var&var=hg19,19,8976821,G,A&fts=all	T14112I	--	--	1																																		MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.T882I|MUC16_uc010xki.1_Intron	1	1		probably_damaging(0.999)	p.T14082I	NM_024690	NP_078966			1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		73	42449	-			UPI000065CA24	14112	Missing (in Ref. 3; AAK74120).		SEA 14.|Extracellular (Potential).		SNV	MUC16,missense_variant,p.Thr14082Ile,ENST00000397910,NM_024690.2;MUC16,missense_variant,p.Thr905Ile,ENST00000599436,;MUC16,missense_variant,p.Thr723Ile,ENST00000380951,;MUC16,non_coding_transcript_exon_variant,,ENST00000596956,;MUC16,missense_variant,p.Thr900Ile,ENST00000601404,;MUC16,intron_variant,,ENST00000596768,;	uc002mkp.2	c.42245C>T	42449/43816	2	2			c.42245C>T						19	SNP	c.(42244-42246)ACC>ATC	29	29			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			8976821		0.567	ENSG00000181143	9791	g.chr19:8976821G>A	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							71.442625	KEEP	14	14	-1	31	46	14	14	-1	75.493277	31	46	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	A			MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.T882I|MUC16_uc010xki.1_Intron	48	GBM-06-0211-TP	p.T14082I	G	ATTGGAGATGGTGAAGTTGAG	NM_024690	NP_078966	8976821	Q8WXI7	MUC16_HUMAN	0			73	42449	-	A	A			Missense_Mutation	14112	Missing (in Ref. 3; AAK74120).		SEA 14.|Extracellular (Potential).			
MUC16	94025	broad.mit.edu	GRCh37	19	9071728	9071728	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0216-01	TCGA-06-0216-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.15718A>G	p.Lys5240Glu	p.K5240E	ENST00000397910	NM_024690.2	5240	Aag/Gag	0			1			C	K/E	uc002mkp.2	protein_coding	YES	CCDS54212.1			15718/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(15718-15720)AAG>GAG				mucin 16				ENSP00000381008		Mar-84									COSM3404884,COSM3404885,COSM3404883	Mar-84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9071728T>C	15582			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=5231&re=5430&var=K5242E	NA	getma.org/?cm=var&var=hg19,19,9071728,T,C&fts=all	K5242E	--	--	1																																			1,1,1	1		unknown(0)	p.K5240E	NM_024690	NP_078966			1,1,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		3	15922	-			UPI000065CA24	5242			Thr-rich.|Extracellular (Potential).		SNV	MUC16,missense_variant,p.Lys5240Glu,ENST00000397910,NM_024690.2;	uc002mkp.2	c.15718A>G	15922/43816	3	3			c.15718A>G						19	SNP	c.(15718-15720)AAG>GAG	56	56			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9071728		0.478	ENSG00000181143	9791	g.chr19:9071728T>C	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							280.079553	KEEP	55	37	-1	84	37	55	37	-1	281.193374	84	37	0.42	1	0	0	0	0	1	0	0	0	--	--		0	C				51	GBM-06-0216-TP	p.K5240E	T	ACTGTGGACTTATCATGGTCT	NM_024690	NP_078966	9071728	Q8WXI7	MUC16_HUMAN	0			3	15922	-	C	C			Missense_Mutation	5242			Thr-rich.|Extracellular (Potential).			
MUC16	94025	broad.mit.edu	GRCh37	19	9026313	9026313	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0221-01	TCGA-06-0221-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.36673G>T	p.Ala12225Ser	p.A12225S	ENST00000397910	NM_024690.2	12225	Gct/Tct	0			1			A	A/S	uc002mkp.2	protein_coding	YES	CCDS54212.1			36673/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(36673-36675)GCT>TCT			Superfamily_domains:0047452,Gene3D:1ivzA00,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0,Low_complexity_(Seg):seg	mucin 16				ENSP00000381008		14/84									COSM2731186	14/84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9026313C>A	15582			MODERATE		2.14	medium	getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=12184&re=12229&var=A12227S	NA	getma.org/?cm=var&var=hg19,19,9026313,C,A&fts=all	A12227S	--	--	1																																			1	1		benign(0.275)	p.A12225S	NM_024690	NP_078966			1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		14	36877	-			UPI000065CA24	12227			Extracellular (Potential).		SNV	MUC16,missense_variant,p.Ala12225Ser,ENST00000397910,NM_024690.2;	uc002mkp.2	c.36673G>T	36877/43816	2	2			c.36673G>T						19	SNP	c.(36673-36675)GCT>TCT	30	30			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9026313		0.438	ENSG00000181143	9791	g.chr19:9026313C>A	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							-45.664315	KEEP	3	3	0.5	131	125	3	3	0.5	10.640006	131	125	0.026432	1	0	0	0	0	1	0	0	0	--	--		0	A				53	GBM-06-0221-TP	p.A12225S	C	AGAGGGCCAGCAGCTATAGTG	NM_024690	NP_078966	9026313	Q8WXI7	MUC16_HUMAN	0			14	36877	-	A	A			Missense_Mutation	12227			Extracellular (Potential).			
MUC16	94025	broad.mit.edu	GRCh37	19	9090417	9090417	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0646-01	TCGA-06-0646-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.1398C>G	p.Ser466Arg	p.S466R	ENST00000397910	NM_024690.2	466	agC/agG	0			1			C	S/R	uc002mkp.2	protein_coding	YES	CCDS54212.1			1398/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(1396-1398)AGC>AGG				mucin 16				ENSP00000381008		Jan-84									COSM3404915,COSM3404914	Jan-84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9090417G>C	15582			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=1&re=652&var=S466R	NA	getma.org/?cm=var&var=hg19,19,9090417,G,C&fts=all	S466R	--	--	1																																			1,1	1		unknown(0)	p.S466R	NM_024690	NP_078966			1,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		1	1602	-			UPI000065CA24	466			Thr-rich.|Extracellular (Potential).		SNV	MUC16,missense_variant,p.Ser466Arg,ENST00000397910,NM_024690.2;	uc002mkp.2	c.1398C>G	1602/43816	3	3			c.1398C>G						19	SNP	c.(1396-1398)AGC>AGG	7	7			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9090417		0.522	ENSG00000181143	9791	g.chr19:9090417G>C	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							330.005975	KEEP	45	68	-1	111	112	45	68	-1	337.580487	111	112	0.329932	1	0	0	0	0	1	0	0	0	--	--		0	C				60	GBM-06-0646-TP	p.S466R	G	TTCTGATCTTGCTGTCAAGAG	NM_024690	NP_078966	9090417	Q8WXI7	MUC16_HUMAN	0			1	1602	-	C	C			Missense_Mutation	466			Thr-rich.|Extracellular (Potential).			
MUC16	94025	broad.mit.edu	GRCh37	19	9015333	9015333	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0686-01	TCGA-06-0686-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.38255G>A	p.Arg12752Lys	p.R12752K	ENST00000397910	NM_024690.2	12752	aGa/aAa	0			1			T	R/K	uc002mkp.2	protein_coding	YES	CCDS54212.1			38255/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(38254-38256)AGA>AAA			Superfamily_domains:0047452,Gene3D:1ivzA00,Pfam_domain:PF01390,PROSITE_profiles:PS50024,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0	mucin 16				ENSP00000381008		30/84									COSM3404831	30/84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9015333C>T	15582			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=12698&re=12810&var=R12754K	getma.org/pdb.php?prot=MUC16_HUMAN&from=12698&to=12810&var=R12754K	getma.org/?cm=var&var=hg19,19,9015333,C,T&fts=all	R12754K	--	--	1																																		MUC16_uc010xki.1_5'Flank	1	1		possibly_damaging(0.822)	p.R12752K	NM_024690	NP_078966			1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		30	38459	-			UPI000065CA24	12754	Missing (in Ref. 3; AAK74120).		SEA 5.|Extracellular (Potential).		SNV	MUC16,missense_variant,p.Arg12752Lys,ENST00000397910,NM_024690.2;	uc002mkp.2	c.38255G>A	38459/43816	2	2			c.38255G>A						19	SNP	c.(38254-38256)AGA>AAA	28	28			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9015333		0.517	ENSG00000181143	9791	g.chr19:9015333C>T	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							85.027309	KEEP	18	13	-1	36	29	18	13	-1	86.429539	36	29	0.361446	1	0	0	0	0	1	0	0	0	--	--		0	T			MUC16_uc010xki.1_5'Flank	64	GBM-06-0686-TP	p.R12752K	C	CAAGGTCAGTCTGCAGCCAGA	NM_024690	NP_078966	9015333	Q8WXI7	MUC16_HUMAN	0			30	38459	-	T	T			Missense_Mutation	12754	Missing (in Ref. 3; AAK74120).		SEA 5.|Extracellular (Potential).			
MUC16	94025	broad.mit.edu	GRCh37	19	9046404	9046404	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0875-01	TCGA-06-0875-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.35227G>A	p.Val11743Met	p.V11743M	ENST00000397910	NM_024690.2	11743	Gtg/Atg	0			1			T	V/M	uc002mkp.2	protein_coding	YES	CCDS54212.1			35227/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(35227-35229)GTG>ATG			hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0	mucin 16				ENSP00000381008		May-84									COSM568877,COSM568876	May-84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9046404C>T	15582			MODERATE		0.49	neutral	getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=11664&re=11863&var=V11745M	NA	getma.org/?cm=var&var=hg19,19,9046404,C,T&fts=all	V11745M	--	--	1																																			1,1	1		possibly_damaging(0.593)	p.V11743M	NM_024690	NP_078966			1,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		5	35431	-			UPI000065CA24	11745			Thr-rich.|Extracellular (Potential).		SNV	MUC16,missense_variant,p.Val11743Met,ENST00000397910,NM_024690.2;	uc002mkp.2	c.35227G>A	35431/43816	2	2			c.35227G>A						19	SNP	c.(35227-35229)GTG>ATG	24	24			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9046404		0.502	ENSG00000181143	9791	g.chr19:9046404C>T	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							166.874692	KEEP	25	33	-1	33	22	25	33	-1	166.893566	33	22	0.514563	1	0	0	0	0	1	0	0	0	--	--		0	T				71	GBM-06-0875-TP	p.V11743M	C	TGTGAAGTCACCATCTCTGGT	NM_024690	NP_078966	9046404	Q8WXI7	MUC16_HUMAN	0			5	35431	-	T	T			Missense_Mutation	11745			Thr-rich.|Extracellular (Potential).			
MUC16	94025	broad.mit.edu	GRCh37	19	9088857	9088857	+	synonymous_variant	Silent	SNP	T	T	A			TCGA-06-5408-01	TCGA-06-5408-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.2958A>T	p.Ser986=	p.S986=	ENST00000397910	NM_024690.2	986	tcA/tcT	0			1			A	S	uc002mkp.2	protein_coding	YES	CCDS54212.1			2958/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(2956-2958)TCA>TCT			Low_complexity_(Seg):seg	mucin 16				ENSP00000381008		Jan-84									COSM3404909,COSM3404908	Jan-84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9088857T>A	15582			LOW								--	--	1																																			1,1	1			p.S986S	NM_024690	NP_078966			1,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		1	3162	-			UPI000065CA24	986			Thr-rich.|Extracellular (Potential).		SNV	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;	uc002mkp.2	c.2958A>T	3162/43816	2	2			c.2958A>T						19	SNP	c.(2956-2958)TCA>TCT	22	22			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9088857		0.463	ENSG00000181143	9791	g.chr19:9088857T>A	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							-49.07272	KEEP	5	16	-1	188	209	5	16	-1	31.128381	188	209	0.044321	1	0	0	0	0	0	0	1	0	--	--		0	A				92	GBM-06-5408-TP	p.S986S	T	TGGCAGAGGTTGAAACAGTGG	NM_024690	NP_078966	9088857	Q8WXI7	MUC16_HUMAN	0			1	3162	-	A	A			Silent	986			Thr-rich.|Extracellular (Potential).			
MUC16	94025	broad.mit.edu	GRCh37	19	8996490	8996490	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-5415-01	TCGA-06-5415-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.41082T>C	p.Pro13694=	p.P13694=	ENST00000397910	NM_024690.2	13694	ccT/ccC	0			1			G	P	uc002mkp.2	protein_coding	YES	CCDS54212.1			41082/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(41080-41082)CCT>CCC			Superfamily_domains:0047452,Gene3D:1ivzA00,Pfam_domain:PF01390,PROSITE_profiles:PS50024,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0	mucin 16				ENSP00000381008		61/84									COSM3404822,COSM3404821	61/84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:8996490A>G	15582			LOW								--	--	1																																		MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.P511P|MUC16_uc010xki.1_RNA	1,1	1			p.P13694P	NM_024690	NP_078966			1,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		61	41286	-			UPI000065CA24	13696	Missing (in Ref. 3; AAK74120).		Extracellular (Potential).|SEA 11.		SNV	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;MUC16,synonymous_variant,p.=,ENST00000599436,;MUC16,synonymous_variant,p.=,ENST00000380951,;MUC16,synonymous_variant,p.=,ENST00000601404,;MUC16,synonymous_variant,p.=,ENST00000596768,;	uc002mkp.2	c.41082T>C	41286/43816	3	3			c.41082T>C						19	SNP	c.(41080-41082)CCT>CCC	58	58			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			8996490		0.542	ENSG00000181143	9791	g.chr19:8996490A>G	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							-16.064508	KEEP	1	2	-1	49	68	1	2	-1	7.607744	49	68	0.030612	1	0	0	0	0	0	0	1	0	--	--		0	G			MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.P511P|MUC16_uc010xki.1_RNA	98	GBM-06-5415-TP	p.P13694P	A	CATCCTTTTCAGGCCTGGAGA	NM_024690	NP_078966	8996490	Q8WXI7	MUC16_HUMAN	0			61	41286	-	G	G			Silent	13696	Missing (in Ref. 3; AAK74120).		Extracellular (Potential).|SEA 11.			
MUC16	94025	broad.mit.edu	GRCh37	19	9008202	9008202	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.39350C>T	p.Thr13117Ile	p.T13117I	ENST00000397910	NM_024690.2	13117	aCc/aTc	0			1			A	T/I	uc002mkp.2	protein_coding	YES	CCDS54212.1			39350/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(39349-39351)ACC>ATC			Superfamily_domains:0047452,Gene3D:1ivzA00,PROSITE_profiles:PS50024,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0,SMART_domains:SM00200	mucin 16				ENSP00000381008		41/84									COSM3404830,COSM3404829	41/84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9008202G>A	15582			MODERATE		2.465	medium	getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=13010&re=13120&var=T13119I	getma.org/pdb.php?prot=MUC16_HUMAN&from=13010&to=13120&var=T13119I	getma.org/?cm=var&var=hg19,19,9008202,G,A&fts=all	T13119I	--	--	1																																		MUC16_uc010dwi.2_5'Flank|MUC16_uc010dwj.2_5'Flank|MUC16_uc010xki.1_Intron	1,1	1		possibly_damaging(0.889)	p.T13117I	NM_024690	NP_078966			1,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		41	39554	-			UPI000065CA24	13119			Extracellular (Potential).|SEA 7.		SNV	MUC16,missense_variant,p.Thr13117Ile,ENST00000397910,NM_024690.2;MUC16,upstream_gene_variant,,ENST00000599436,;MUC16,upstream_gene_variant,,ENST00000380951,;MUC16,upstream_gene_variant,,ENST00000601404,;	uc002mkp.2	c.39350C>T	39554/43816	2	2			c.39350C>T						19	SNP	c.(39349-39351)ACC>ATC	34	34			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9008202		0.547	ENSG00000181143	9791	g.chr19:9008202G>A	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							685.742226	KEEP	120	120	-1	43	61	120	120	-1	697.742528	43	61	0.712838	1	0	0	0	0	1	0	0	0	--	--		0	A			MUC16_uc010dwi.2_5'Flank|MUC16_uc010dwj.2_5'Flank|MUC16_uc010xki.1_Intron	102	GBM-06-5858-TP	p.T13117I	G	CCGGTCCAGGGTGTAGGGGCC	NM_024690	NP_078966	9008202	Q8WXI7	MUC16_HUMAN	0			41	39554	-	A	A			Missense_Mutation	13119			Extracellular (Potential).|SEA 7.			
MUC16	94025	broad.mit.edu	GRCh37	19	9091524	9091524	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6388-01	TCGA-06-6388-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.291C>T	p.Ser97=	p.S97=	ENST00000397910	NM_024690.2	97	tcC/tcT	0	A:0.0073	A:0.0068	1	A:0		A	S	uc002mkp.2	protein_coding	YES	CCDS54212.1			291/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(289-291)TCC>TCT				mucin 16		A:0	A:0.0001	ENSP00000381008	A:0	Jan-84	0.000653	0.00745	0.000346			3.00E-05			rs375390174,COSM1527149,COSM1527148	Jan-84	common_variant		ENST00000397910	Transcript		A:0.0018	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9091524G>A	15582			LOW								--	--	1																																			0,1,1	1			p.S97S	NM_024690	NP_078966	A:0		0,1,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		1	495	-			UPI000065CA24	97			Thr-rich.|Extracellular (Potential).		SNV	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;	uc002mkp.2	c.291C>T	495/43816	1	1			c.291C>T						19	SNP	c.(289-291)TCC>TCT	51	51			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9091524		0.537	ENSG00000181143	9791	g.chr19:9091524G>A	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							-22.867031	KEEP	3	4	-1	96	73	3	4	-1	11.33642	96	73	0.04	1	0	0	0	0	0	0	1	0	--	--		0	A				104	GBM-06-6388-TP	p.S97S	G	TTCTTTGCTCGGAGTGTGTCA	NM_024690	NP_078966	9091524	Q8WXI7	MUC16_HUMAN	0			1	495	-	A	A			Silent	97			Thr-rich.|Extracellular (Potential).			
MUC16	94025	broad.mit.edu	GRCh37	19	9056794	9056794	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-6390-01	TCGA-06-6390-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.30652T>C	p.Ser10218Pro	p.S10218P	ENST00000397910	NM_024690.2	10218	Tca/Cca	0			1			G	S/P	uc002mkp.2	protein_coding	YES	CCDS54212.1			30652/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(30652-30654)TCA>CCA			hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0	mucin 16				ENSP00000381008		Mar-84										Mar-84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9056794A>G	15582			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=10064&re=10263&var=S10220P	NA	getma.org/?cm=var&var=hg19,19,9056794,A,G&fts=all	S10220P	--	--	1																																				1		benign(0.027)	p.S10218P	NM_024690	NP_078966					MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		3	30856	-			UPI000065CA24	10220			Ser-rich.|Thr-rich.|Extracellular (Potential).		SNV	MUC16,missense_variant,p.Ser10218Pro,ENST00000397910,NM_024690.2;	uc002mkp.2	c.30652T>C	30856/43816	3	3			c.30652T>C						19	SNP	c.(30652-30654)TCA>CCA	61	61			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9056794		0.463	ENSG00000181143	9791	g.chr19:9056794A>G	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							-18.525733	KEEP	2	1	-1	51	65	2	1	-1	7.118736	51	65	0.028571	1	0	0	0	0	1	0	0	0	--	--		0	G				106	GBM-06-6390-TP	p.S10218P	A	GTATACTGTGAGGCTGGAGGC	NM_024690	NP_078966	9056794	Q8WXI7	MUC16_HUMAN	0			3	30856	-	G	G			Missense_Mutation	10220			Ser-rich.|Thr-rich.|Extracellular (Potential).			
MUC16	0	broad.mit.edu	GRCh37	19	9067037	9067037	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-12-0619-01	TCGA-12-0619-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.20409T>C	p.Ser6803=	p.S6803=	ENST00000397910	NM_024690.2	6803	tcT/tcC	0			1			G	S	uc002mkp.2	protein_coding	YES	CCDS54212.1			20409/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(20407-20409)TCT>TCC				mucin 16				ENSP00000381008		Mar-84									COSM3748082,COSM3748083,COSM3748081	Mar-84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9067037A>G	15582			LOW								--	--	1																																			1,1,1	1			p.S6803S	NM_024690	NP_078966			1,1,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		3	20613	-			UPI000065CA24	6805			Thr-rich.|Extracellular (Potential).		SNV	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;	uc002mkp.2	c.20409T>C	20613/43816	3	3			c.20409T>C						19	SNP	c.(20407-20409)TCT>TCC	62	62			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9067037		0.473	ENSG00000181143	9791	g.chr19:9067037A>G	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							-17.242516	KEEP	3	2	-1	62	79	3	2	-1	12.683983	62	79	0.038462	1	0	0	0	0	0	0	1	0	--	--		0	G				120	GBM-12-0619-TP	p.S6803S	A	GCATCAGGGAAGAGGAGAAGC	NM_024690	NP_078966	9067037	Q8WXI7	MUC16_HUMAN	0			3	20613	-	G	G			Silent	6805			Thr-rich.|Extracellular (Potential).			
MUC16	0	broad.mit.edu	GRCh37	19	9062926	9062926	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01	TCGA-12-3650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.24520G>A	p.Val8174Met	p.V8174M	ENST00000397910	NM_024690.2	8174	Gtg/Atg	0			1			T	V/M	uc002mkp.2	protein_coding	YES	CCDS54212.1			24520/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(24520-24522)GTG>ATG				mucin 16				ENSP00000381008		Mar-84									COSM3404863,COSM3404864,COSM3404862	Mar-84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9062926C>T	15582			MODERATE		-0.145	neutral	getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=8120&re=8294&var=V8176M	NA	getma.org/?cm=var&var=hg19,19,9062926,C,T&fts=all	V8176M	--	--	1																																			1,1,1	1		unknown(0)	p.V8174M	NM_024690	NP_078966			1,1,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		3	24724	-			UPI000065CA24	8176			Ser-rich.|Thr-rich.|Extracellular (Potential).		SNV	MUC16,missense_variant,p.Val8174Met,ENST00000397910,NM_024690.2;	uc002mkp.2	c.24520G>A	24724/43816	2	2			c.24520G>A						19	SNP	c.(24520-24522)GTG>ATG	35	35			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9062926		0.502	ENSG00000181143	9791	g.chr19:9062926C>T	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							135.429751	KEEP	33	18	-1	72	59	33	18	-1	141.743671	72	59	0.292683	1	0	0	0	0	1	0	0	0	--	--		0	T				126	GBM-12-3650-TP	p.V8174M	C	TCTGGTGACACTGTGAGCTGA	NM_024690	NP_078966	9062926	Q8WXI7	MUC16_HUMAN	0			3	24724	-	T	T			Missense_Mutation	8176			Ser-rich.|Thr-rich.|Extracellular (Potential).			
MUC16	0	broad.mit.edu	GRCh37	19	9006685	9006685	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.39563G>A	p.Gly13188Asp	p.G13188D	ENST00000397910	NM_024690.2	13188	gGc/gAc	0			1			T	G/D	uc002mkp.2	protein_coding	YES	CCDS54212.1			39563/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(39562-39564)GGC>GAC			Superfamily_domains:0047452,Gene3D:1ivzA00,Pfam_domain:PF01390,PROSITE_profiles:PS50024,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0	mucin 16				ENSP00000381008		44/84									COSM3404828,COSM3404827	44/84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9006685C>T	15582			MODERATE		2.38	medium	getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=13166&re=13278&var=G13190D	getma.org/pdb.php?prot=MUC16_HUMAN&from=13166&to=13278&var=G13190D	getma.org/?cm=var&var=hg19,19,9006685,C,T&fts=all	G13190D	--	--	1																																		MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.G5D|MUC16_uc010xki.1_Intron	1,1	1		probably_damaging(0.983)	p.G13188D	NM_024690	NP_078966			1,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		44	39767	-			UPI000065CA24	13190			SEA 8.|Extracellular (Potential).		SNV	MUC16,missense_variant,p.Gly13188Asp,ENST00000397910,NM_024690.2;MUC16,missense_variant,p.Gly28Asp,ENST00000599436,;MUC16,upstream_gene_variant,,ENST00000380951,;MUC16,missense_variant,p.Gly28Asp,ENST00000601404,;MUC16,upstream_gene_variant,,ENST00000596768,;	uc002mkp.2	c.39563G>A	39767/43816	2	2			c.39563G>A						19	SNP	c.(39562-39564)GGC>GAC	23	23			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9006685		0.527	ENSG00000181143	9791	g.chr19:9006685C>T	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							299.096729	KEEP	56	51	-1	91	82	56	51	-1	301.989451	91	82	0.386973	1	0	0	0	0	1	0	0	0	--	--		0	T			MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.G5D|MUC16_uc010xki.1_Intron	129	GBM-12-5295-TP	p.G13188D	C	CTTCCTGGAGCCAGGGTGACC	NM_024690	NP_078966	9006685	Q8WXI7	MUC16_HUMAN	0			44	39767	-	T	T			Missense_Mutation	13190			SEA 8.|Extracellular (Potential).			
MUC16	0	broad.mit.edu	GRCh37	19	9068085	9068085	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.19361C>T	p.Ala6454Val	p.A6454V	ENST00000397910	NM_024690.2	6454	gCg/gTg	0	A:0		1			A	A/V	uc002mkp.2	protein_coding	YES	CCDS54212.1			19361/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(19360-19362)GCG>GTG				mucin 16			A:0.0008	ENSP00000381008		Mar-84	0.000513	0.000306	8.64E-05	0.00186		0.0006	0.00111	6.07E-05	rs201728641,COSM475586,COSM475587,COSM475585	Mar-84	common_variant		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9068085G>A	15582			MODERATE		1.525	low	getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=5680&re=6717&var=A6456V	NA	getma.org/?cm=var&var=hg19,19,9068085,G,A&fts=all	A6456V	--	--	1																																			0,1,1,1	1		unknown(0)	p.A6454V	NM_024690	NP_078966			0,1,1,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		3	19565	-			UPI000065CA24	6456			Thr-rich.|Extracellular (Potential).		SNV	MUC16,missense_variant,p.Ala6454Val,ENST00000397910,NM_024690.2;	uc002mkp.2	c.19361C>T	19565/43816	1	1			c.19361C>T						19	SNP	c.(19360-19362)GCG>GTG	62	62			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9068085		0.498	ENSG00000181143	9791	g.chr19:9068085G>A	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							428.768661	KEEP	104	81	-1	114	108	104	81	-1	429.728891	114	108	0.445055	1	0	0	0	0	1	0	0	0	--	--		0	A				131	GBM-12-5301-TP	p.A6454V	G	CTGTGATGTCGCCCTATGAGG	NM_024690	NP_078966	9068085	Q8WXI7	MUC16_HUMAN	0			3	19565	-	A	A			Missense_Mutation	6456			Thr-rich.|Extracellular (Potential).			
MUC16	0	broad.mit.edu	GRCh37	19	9077406	9077406	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-14-0740-01	TCGA-14-0740-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.10040G>A	p.Trp3347Ter	p.W3347*	ENST00000397910	NM_024690.2	3347	tGg/tAg	0			1			T	W/*	uc002mkp.2	protein_coding	YES	CCDS54212.1			10040/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(10039-10041)TGG>TAG				mucin 16				ENSP00000381008		Mar-84									COSM3404895,COSM3404894	Mar-84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9077406C>T	15582			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,19,9077406,C,T&fts=all	W3348*	--	--	1																																			1,1	1			p.W3347*	NM_024690	NP_078966			1,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		3	10244	-			UPI000065CA24	3348			Thr-rich.|Extracellular (Potential).		SNV	MUC16,stop_gained,p.Trp3347Ter,ENST00000397910,NM_024690.2;	uc002mkp.2	c.10040G>A	10244/43816	5	2			c.10040G>A						19	SNP	c.(10039-10041)TGG>TAG	22	22			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9077406		0.502	ENSG00000181143	9791	g.chr19:9077406C>T	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							276.492626	KEEP	56	44	-1	31	42	56	44	-1	277.446501	31	42	0.582822	1	0	0	0	0	0	1	0	0	--	--		0	T				132	GBM-14-0740-TP	p.W3347*	C	AGAGCCATGCCACATAGAGAA	NM_024690	NP_078966	9077406	Q8WXI7	MUC16_HUMAN	0			3	10244	-	T	T			Nonsense_Mutation	3348			Thr-rich.|Extracellular (Potential).			
MUC16	0	broad.mit.edu	GRCh37	19	9088981	9088981	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0781-01	TCGA-14-0781-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.2834C>T	p.Thr945Met	p.T945M	ENST00000397910	NM_024690.2	945	aCg/aTg	0	A:0.0005	A:0	1	A:0.0014		A	T/M	uc002mkp.2	protein_coding	YES	CCDS54212.1			2834/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(2833-2835)ACG>ATG				mucin 16		A:0	A:0.0004	ENSP00000381008	A:0	Jan-84	0.000215	0.00122	8.64E-05	0.000116		7.49E-05		0.000424	rs202224746,COSM3404911,COSM3404910	Jan-84	common_variant		ENST00000397910	Transcript		A:0.0002	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9088981G>A	15582			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=943&re=1003&var=T945M	NA	getma.org/?cm=var&var=hg19,19,9088981,G,A&fts=all	T945M	--	--	1																																			0,1,1	1		unknown(0)	p.T945M	NM_024690	NP_078966	A:0		0,1,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		1	3038	-			UPI000065CA24	945			Thr-rich.|Extracellular (Potential).		SNV	MUC16,missense_variant,p.Thr945Met,ENST00000397910,NM_024690.2;	uc002mkp.2	c.2834C>T	3038/43816	1	1			c.2834C>T						19	SNP	c.(2833-2835)ACG>ATG	61	61			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9088981		0.478	ENSG00000181143	9791	g.chr19:9088981G>A	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							32.270337	KEEP	8	16	-1	70	88	8	16	-1	55.528188	70	88	0.134078	1	0	0	0	0	1	0	0	0	--	--		0	A				133	GBM-14-0781-TP	p.T945M	G	CATTGTTGCCGTCCCAGTGAG	NM_024690	NP_078966	9088981	Q8WXI7	MUC16_HUMAN	0			1	3038	-	A	A			Missense_Mutation	945			Thr-rich.|Extracellular (Potential).			
MUC16	0	broad.mit.edu	GRCh37	19	9062384	9062384	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-14-1043-01	TCGA-14-1043-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.25062C>A	p.Thr8354=	p.T8354=	ENST00000397910	NM_024690.2	8354	acC/acA	0			1			T	T	uc002mkp.2	protein_coding	YES	CCDS54212.1			25062/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(25060-25062)ACC>ACA				mucin 16				ENSP00000381008		Mar-84									COSM3404860,COSM3404861,COSM3404859	Mar-84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9062384G>T	15582			LOW								--	--	1																																			1,1,1	1			p.T8354T	NM_024690	NP_078966			1,1,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		3	25266	-			UPI000065CA24	8356			Ser-rich.|Thr-rich.|Extracellular (Potential).		SNV	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;	uc002mkp.2	c.25062C>A	25266/43816	1	1			c.25062C>A						19	SNP	c.(25060-25062)ACC>ACA	10	10			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9062384		0.488	ENSG00000181143	9791	g.chr19:9062384G>T	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							54.461995	KEEP	15	14	0.517241379	62	49	15	14	0.517241379	65.158476	62	49	0.20155	1	0	0	0	0	0	0	1	0	--	--		0	T				143	GBM-14-1043-TP	p.T8354T	G	TCCTCACGTTGGTCACTGCTG	NM_024690	NP_078966	9062384	Q8WXI7	MUC16_HUMAN	0			3	25266	-	T	T			Silent	8356			Ser-rich.|Thr-rich.|Extracellular (Potential).			
MUC16	0	broad.mit.edu	GRCh37	19	9067947	9067947	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-15-0742-01	TCGA-15-0742-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.19499C>G	p.Thr6500Arg	p.T6500R	ENST00000397910	NM_024690.2	6500	aCa/aGa	0			1			C	T/R	uc002mkp.2	protein_coding	YES	CCDS54212.1			19499/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(19498-19500)ACA>AGA			Low_complexity_(Seg):seg	mucin 16				ENSP00000381008		Mar-84									COSM3404869,COSM3404870,COSM3404868	Mar-84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9067947G>C	15582			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=5680&re=6717&var=T6502R	NA	getma.org/?cm=var&var=hg19,19,9067947,G,C&fts=all	T6502R	--	--	1																																			1,1,1	1		unknown(0)	p.T6500R	NM_024690	NP_078966			1,1,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		3	19703	-			UPI000065CA24	6502			Thr-rich.|Extracellular (Potential).		SNV	MUC16,missense_variant,p.Thr6500Arg,ENST00000397910,NM_024690.2;	uc002mkp.2	c.19499C>G	19703/43816	4	4			c.19499C>G						19	SNP	c.(19498-19500)ACA>AGA	35	35			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9067947		0.468	ENSG00000181143	9791	g.chr19:9067947G>C	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							102.73961	KEEP	14	17	-1	20	19	14	17	-1	102.899212	20	19	0.447761	1	0	0	0	0	1	0	0	0	--	--		0	C				153	GBM-15-0742-TP	p.T6500R	G	GGGTGGGCTTGTCCCTGATAT	NM_024690	NP_078966	9067947	Q8WXI7	MUC16_HUMAN	0			3	19703	-	C	C			Missense_Mutation	6502			Thr-rich.|Extracellular (Potential).			
MUC16	0	broad.mit.edu	GRCh37	19	8966765	8966765	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.43188G>A	p.Ser14396=	p.S14396=	ENST00000397910	NM_024690.2	14396	tcG/tcA	0			1			T	S	uc002mkp.2	protein_coding	YES	CCDS54212.1			43188/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(43186-43188)TCG>TCA			Superfamily_domains:0047452,Gene3D:1ivzA00,Pfam_domain:PF01390,PROSITE_profiles:PS50024,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0,SMART_domains:SM00200	mucin 16				ENSP00000381008		81/84	2.48E-05					0.00011			rs762197996,COSM3404819	81/84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:8966765C>T	15582			LOW								--	--	1																																		MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.S1196S|MUC16_uc010xki.1_RNA	0,1	1			p.S14396S	NM_024690	NP_078966			0,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		81	43392	-			UPI000065CA24	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					SNV	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;MUC16,synonymous_variant,p.=,ENST00000599436,;MUC16,synonymous_variant,p.=,ENST00000380951,;MUC16,missense_variant,p.Arg1219His,ENST00000601404,;MUC16,3_prime_UTR_variant,,ENST00000596768,;	uc002mkp.2	c.43188G>A	43392/43816	1	1			c.43188G>A						19	SNP	c.(43186-43188)TCG>TCA	8	8			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			8966765		0.527	ENSG00000181143	9791	g.chr19:8966765C>T	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							12.064729	KEEP	3	2	-1	10	7	3	2	-1	13.029943	10	7	0.263158	1	0	0	0	0	0	0	1	0	--	--		0	T			MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.S1196S|MUC16_uc010xki.1_RNA	159	GBM-19-1390-TP	p.S14396S	C	GAGCCAGTGGCGAGAAGTTAC	NM_024690	NP_078966	8966765	Q8WXI7	MUC16_HUMAN	0			81	43392	-	T	T			Silent	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						
MUC16	0	broad.mit.edu	GRCh37	19	9057573	9057573	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.29873C>T	p.Thr9958Ile	p.T9958I	ENST00000397910	NM_024690.2	9958	aCc/aTc	0			1			A	T/I	uc002mkp.2	protein_coding	YES	CCDS54212.1			29873/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(29872-29874)ACC>ATC			hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0,Low_complexity_(Seg):seg	mucin 16				ENSP00000381008		Mar-84									COSM3404853,COSM3404852	Mar-84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9057573G>A	15582			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=9930&re=10018&var=T9960I	NA	getma.org/?cm=var&var=hg19,19,9057573,G,A&fts=all	T9960I	--	--	1																																			1,1	1		unknown(0)	p.T9958I	NM_024690	NP_078966			1,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		3	30077	-			UPI000065CA24	9960			Ser-rich.|Thr-rich.|Extracellular (Potential).		SNV	MUC16,missense_variant,p.Thr9958Ile,ENST00000397910,NM_024690.2;	uc002mkp.2	c.29873C>T	30077/43816	1	1			c.29873C>T						19	SNP	c.(29872-29874)ACC>ATC	51	51			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9057573		0.488	ENSG00000181143	9791	g.chr19:9057573G>A	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							380.571116	KEEP	81	73	-1	197	179	81	73	-1	398.9101	197	179	0.293996	1	0	0	0	0	1	0	0	0	--	--		0	A				159	GBM-19-1390-TP	p.T9958I	G	ACTTTTTTGGGTGGTGATGGT	NM_024690	NP_078966	9057573	Q8WXI7	MUC16_HUMAN	0			3	30077	-	A	A			Missense_Mutation	9960			Ser-rich.|Thr-rich.|Extracellular (Potential).			
MUC16	0	broad.mit.edu	GRCh37	19	9068025	9068025	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-2625-01	TCGA-19-2625-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.19421A>G	p.His6474Arg	p.H6474R	ENST00000397910	NM_024690.2	6474	cAc/cGc	0			1			C	H/R	uc002mkp.2	protein_coding	YES	CCDS54212.1			19421/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(19420-19422)CAC>CGC				mucin 16				ENSP00000381008		Mar-84									COSM3404875,COSM3404876,COSM3404874	Mar-84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9068025T>C	15582			MODERATE		1.32	low	getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=5680&re=6717&var=H6476R	NA	getma.org/?cm=var&var=hg19,19,9068025,T,C&fts=all	H6476R	--	--	1																																			1,1,1	1		unknown(0)	p.H6474R	NM_024690	NP_078966			1,1,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		3	19625	-			UPI000065CA24	6476			Thr-rich.|Extracellular (Potential).		SNV	MUC16,missense_variant,p.His6474Arg,ENST00000397910,NM_024690.2;	uc002mkp.2	c.19421A>G	19625/43816	3	3			c.19421A>G						19	SNP	c.(19420-19422)CAC>CGC	1	1			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9068025		0.488	ENSG00000181143	9791	g.chr19:9068025T>C	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							53.316975	KEEP	20	8	-1	82	82	20	8	-1	75.371771	82	82	0.146739	1	0	0	0	0	1	0	0	0	--	--		0	C				165	GBM-19-2625-TP	p.H6474R	T	CATAGCTGAGTGGGTCCCTGC	NM_024690	NP_078966	9068025	Q8WXI7	MUC16_HUMAN	0			3	19625	-	C	C			Missense_Mutation	6476			Thr-rich.|Extracellular (Potential).			
MUC16	0	broad.mit.edu	GRCh37	19	8997532	8997532	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2631-01	TCGA-19-2631-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.40890C>T	p.Ala13630=	p.A13630=	ENST00000397910	NM_024690.2	13630	gcC/gcT	0			1			A	A	uc002mkp.2	protein_coding	YES	CCDS54212.1			40890/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(40888-40890)GCC>GCT			Superfamily_domains:0047452,Gene3D:1ivzA00,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0	mucin 16				ENSP00000381008		59/84									COSM3404826,COSM3404825	59/84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:8997532G>A	15582			LOW								--	--	1																																		MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.A447A|MUC16_uc010xki.1_RNA	1,1	1			p.A13630A	NM_024690	NP_078966			1,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		59	41094	-			UPI000065CA24	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					SNV	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;MUC16,synonymous_variant,p.=,ENST00000599436,;MUC16,synonymous_variant,p.=,ENST00000380951,;MUC16,synonymous_variant,p.=,ENST00000601404,;MUC16,synonymous_variant,p.=,ENST00000596768,;	uc002mkp.2	c.40890C>T	41094/43816	1	1			c.40890C>T						19	SNP	c.(40888-40890)GCC>GCT	58	58			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			8997532		0.468	ENSG00000181143	9791	g.chr19:8997532G>A	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							92.492369	KEEP	23	19	-1	35	36	23	19	-1	94.781044	35	36	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	A			MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.A447A|MUC16_uc010xki.1_RNA	167	GBM-19-2631-TP	p.A13630A	G	GGAGAGGGCTGGCAGCTGTCG	NM_024690	NP_078966	8997532	Q8WXI7	MUC16_HUMAN	0			59	41094	-	A	A			Silent	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						
MUC16	0	broad.mit.edu	GRCh37	19	9072932	9072932	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-4068-01	TCGA-19-4068-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.14514C>T	p.Thr4838=	p.T4838=	ENST00000397910	NM_024690.2	4838	acC/acT	0			1			A	T	uc002mkp.2	protein_coding	YES	CCDS54212.1			14514/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(14512-14514)ACC>ACT			Low_complexity_(Seg):seg	mucin 16				ENSP00000381008		Mar-84									rs758400855,COSM2700658,COSM2700659,COSM2700657	Mar-84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9072932G>A	15582			LOW								--	--	1																																			0,1,1,1	1			p.T4838T	NM_024690	NP_078966			0,1,1,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		3	14718	-			UPI000065CA24	4840			Thr-rich.|Extracellular (Potential).		SNV	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;	uc002mkp.2	c.14514C>T	14718/43816	1	1			c.14514C>T						19	SNP	c.(14512-14514)ACC>ACT	63	63			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9072932		0.463	ENSG00000181143	9791	g.chr19:9072932G>A	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							-27.299805	KEEP	1	2	-1	75	67	1	2	-1	6.796329	75	67	0.022388	1	0	0	0	0	0	0	1	0	--	--		0	A				168	GBM-19-4068-TP	p.T4838T	G	ATGCTGAACCGGTGGTCCCCA	NM_024690	NP_078966	9072932	Q8WXI7	MUC16_HUMAN	0			3	14718	-	A	A			Silent	4840			Thr-rich.|Extracellular (Potential).			
MUC16	0	broad.mit.edu	GRCh37	19	9062081	9062081	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-26-5135-01	TCGA-26-5135-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.25365C>G	p.Ser8455=	p.S8455=	ENST00000397910	NM_024690.2	8455	tcC/tcG	0	A:0		1			C	S	uc002mkp.2	protein_coding	YES	CCDS54212.1			25365/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(25363-25365)TCC>TCG				mucin 16			A:0.0002	ENSP00000381008		Mar-84	8.27E-06						0.00111		rs201528861,COSM3404857,COSM3404858,COSM3404856	Mar-84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9062081G>C	15582			LOW								--	--	1																																			0,1,1,1	1			p.S8455S	NM_024690	NP_078966			0,1,1,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		3	25569	-			UPI000065CA24	8457			Ser-rich.|Thr-rich.|Extracellular (Potential).		SNV	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;	uc002mkp.2	c.25365C>G	25569/43816	3	3			c.25365C>G						19	SNP	c.(25363-25365)TCC>TCG	49	49			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9062081		0.522	ENSG00000181143	9791	g.chr19:9062081G>C	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							298.222838	KEEP	49	59	-1	101	103	49	59	-1	304.382004	101	103	0.346801	1	0	0	0	0	0	0	1	0	--	--		0	C				184	GBM-26-5135-TP	p.S8455S	G	TTCCCCTAGAGGATATCACTT	NM_024690	NP_078966	9062081	Q8WXI7	MUC16_HUMAN	0			3	25569	-	C	C			Silent	8457			Ser-rich.|Thr-rich.|Extracellular (Potential).			
MUC16	0	broad.mit.edu	GRCh37	19	9087832	9087832	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.3983C>T	p.Thr1328Met	p.T1328M	ENST00000397910	NM_024690.2	1328	aCg/aTg	0			1			A	T/M	uc002mkp.2	protein_coding	YES	CCDS54212.1			3983/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(3982-3984)ACG>ATG			Low_complexity_(Seg):seg	mucin 16				ENSP00000381008		Jan-84									COSM3404905,COSM3404904	Jan-84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9087832G>A	15582			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=1004&re=3903&var=T1328M	NA	getma.org/?cm=var&var=hg19,19,9087832,G,A&fts=all	T1328M	--	--	1																																			1,1	1		unknown(0)	p.T1328M	NM_024690	NP_078966			1,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		1	4187	-			UPI000065CA24	1328			Thr-rich.|Extracellular (Potential).		SNV	MUC16,missense_variant,p.Thr1328Met,ENST00000397910,NM_024690.2;	uc002mkp.2	c.3983C>T	4187/43816	1	1			c.3983C>T						19	SNP	c.(3982-3984)ACG>ATG	55	55			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9087832		0.527	ENSG00000181143	9791	g.chr19:9087832G>A	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							79.907923	KEEP	15	16	-1	43	34	15	16	-1	83.778456	43	34	0.294118	1	0	0	0	0	1	0	0	0	--	--		0	A				190	GBM-27-1831-TP	p.T1328M	G	CTTAGGATCCGTAGTGGTGAT	NM_024690	NP_078966	9087832	Q8WXI7	MUC16_HUMAN	0			1	4187	-	A	A			Missense_Mutation	1328			Thr-rich.|Extracellular (Potential).			
MUC16	0	broad.mit.edu	GRCh37	19	9021119	9021119	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01	TCGA-27-2526-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.37204G>A	p.Gly12402Arg	p.G12402R	ENST00000397910	NM_024690.2	12402	Ggg/Agg	0		A:0	1	A:0.0014		T	G/R	uc002mkp.2	protein_coding	YES	CCDS54212.1			37204/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(37204-37206)GGG>AGG			Superfamily_domains:0047452,Gene3D:1ivzA00,Pfam_domain:PF01390,PROSITE_profiles:PS50024,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0,SMART_domains:SM00200	mucin 16		A:0.004		ENSP00000381008	A:0	19/84	8.27E-06					1.50E-05			rs568911449,COSM3404833	19/84	.		ENST00000397910	Transcript		A:0.0010	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9021119C>T	15582			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=12387&re=12500&var=G12404R	getma.org/pdb.php?prot=MUC16_HUMAN&from=12387&to=12500&var=G12404R	getma.org/?cm=var&var=hg19,19,9021119,C,T&fts=all	G12404R	--	--	1																																			0,1	1		benign(0.275)	p.G12402R	NM_024690	NP_078966	A:0		0,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		19	37408	-			UPI000065CA24	12404			Extracellular (Potential).|SEA 3.		SNV	MUC16,missense_variant,p.Gly12402Arg,ENST00000397910,NM_024690.2;	uc002mkp.2	c.37204G>A	37408/43816	2	2			c.37204G>A						19	SNP	c.(37204-37206)GGG>AGG	42	42			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9021119		0.547	ENSG00000181143	9791	g.chr19:9021119C>T	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							217.958437	KEEP	36	35	-1	37	49	36	35	-1	218.135531	37	49	0.463087	1	0	0	0	0	1	0	0	0	--	--		0	T				203	GBM-27-2526-TP	p.G12402R	C	ATGTCCTCCCCATACTGCAGG	NM_024690	NP_078966	9021119	Q8WXI7	MUC16_HUMAN	0			19	37408	-	T	T			Missense_Mutation	12404			Extracellular (Potential).|SEA 3.			
MUC16	0	broad.mit.edu	GRCh37	19	9073488	9073488	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-28-1747-01	TCGA-28-1747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.13958C>A	p.Thr4653Lys	p.T4653K	ENST00000397910	NM_024690.2	4653	aCa/aAa	0			1			T	T/K	uc002mkp.2	protein_coding	YES	CCDS54212.1			13958/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(13957-13959)ACA>AAA				mucin 16				ENSP00000381008		Mar-84									COSM3404890,COSM3404891,COSM3404889	Mar-84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9073488G>T	15582			MODERATE		0.83	low	getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=3942&re=4711&var=T4655K	NA	getma.org/?cm=var&var=hg19,19,9073488,G,T&fts=all	T4655K	--	--	1																																			1,1,1	1		unknown(0)	p.T4653K	NM_024690	NP_078966			1,1,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		3	14162	-			UPI000065CA24	4655			Thr-rich.|Extracellular (Potential).		SNV	MUC16,missense_variant,p.Thr4653Lys,ENST00000397910,NM_024690.2;	uc002mkp.2	c.13958C>A	14162/43816	1	1			c.13958C>A						19	SNP	c.(13957-13959)ACA>AAA	7	7			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9073488		0.458	ENSG00000181143	9791	g.chr19:9073488G>T	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							188.363988	KEEP	32	31	0.507936508	53	50	32	31	0.507936508	190.367842	53	50	0.379747	1	0	0	0	0	1	0	0	0	--	--		0	T				206	GBM-28-1747-TP	p.T4653K	G	TGGGAACTTTGTTGACTGAGC	NM_024690	NP_078966	9073488	Q8WXI7	MUC16_HUMAN	0			3	14162	-	T	T			Missense_Mutation	4655			Thr-rich.|Extracellular (Potential).			
MUC16	0	broad.mit.edu	GRCh37	19	9090864	9090864	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-2509-01	TCGA-28-2509-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.951C>T	p.Ala317=	p.A317=	ENST00000397910	NM_024690.2	317	gcC/gcT	0			1			A	A	uc002mkp.2	protein_coding	YES	CCDS54212.1			951/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(949-951)GCC>GCT				mucin 16				ENSP00000381008		Jan-84									COSM3404917,COSM3404916	Jan-84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9090864G>A	15582			LOW								--	--	1																																			1,1	1			p.A317A	NM_024690	NP_078966			1,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		1	1155	-			UPI000065CA24	317			Thr-rich.|Extracellular (Potential).		SNV	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;	uc002mkp.2	c.951C>T	1155/43816	2	2			c.951C>T						19	SNP	c.(949-951)GCC>GCT	41	41			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9090864		0.498	ENSG00000181143	9791	g.chr19:9090864G>A	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							347.145486	KEEP	60	67	-1	51	69	60	67	-1	347.169715	51	69	0.511211	1	0	0	0	0	0	0	1	0	--	--		0	A				211	GBM-28-2509-TP	p.A317A	G	TGCTGGCTCTGGCCTCGGGCA	NM_024690	NP_078966	9090864	Q8WXI7	MUC16_HUMAN	0			1	1155	-	A	A			Silent	317			Thr-rich.|Extracellular (Potential).			
MUC16	0	broad.mit.edu	GRCh37	19	9068764	9068764	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-28-2513-01	TCGA-28-2513-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.18682C>A	p.Leu6228Ile	p.L6228I	ENST00000397910	NM_024690.2	6228	Ctt/Att	0			1			T	L/I	uc002mkp.2	protein_coding	YES	CCDS54212.1			18682/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(18682-18684)CTT>ATT			Low_complexity_(Seg):seg	mucin 16				ENSP00000381008		Mar-84									COSM3404878,COSM3404879,COSM3404877	Mar-84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9068764G>T	15582			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=5680&re=6717&var=L6230I	NA	getma.org/?cm=var&var=hg19,19,9068764,G,T&fts=all	L6230I	--	--	1																																			1,1,1	1		unknown(0)	p.L6228I	NM_024690	NP_078966			1,1,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		3	18886	-			UPI000065CA24	6230			Thr-rich.|Extracellular (Potential).		SNV	MUC16,missense_variant,p.Leu6228Ile,ENST00000397910,NM_024690.2;	uc002mkp.2	c.18682C>A	18886/43816	1	1			c.18682C>A						19	SNP	c.(18682-18684)CTT>ATT	5	5			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9068764		0.478	ENSG00000181143	9791	g.chr19:9068764G>T	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							14.692375	KEEP	7	13	0.35	81	106	7	13	0.35	45.306557	81	106	0.099476	1	0	0	0	0	1	0	0	0	--	--		0	T				213	GBM-28-2513-TP	p.L6228I	G	GTTGTCACAAGGAGAGGTGCC	NM_024690	NP_078966	9068764	Q8WXI7	MUC16_HUMAN	0			3	18886	-	T	T			Missense_Mutation	6230			Thr-rich.|Extracellular (Potential).			
MUC16	0	broad.mit.edu	GRCh37	19	9069909	9069909	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-28-5213-01	TCGA-28-5213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.17537G>T	p.Arg5846Met	p.R5846M	ENST00000397910	NM_024690.2	5846	aGg/aTg	0	A:0		1			A	R/M	uc002mkp.2	protein_coding	YES	CCDS54212.1			17537/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(17536-17538)AGG>ATG				mucin 16			A:0.0002	ENSP00000381008		Mar-84	1.65E-05					3.00E-05			rs373641303,COSM3404881,COSM3404882,COSM3404880	Mar-84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9069909C>A	15582			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=5680&re=6717&var=R5848M	NA	getma.org/?cm=var&var=hg19,19,9069909,C,A&fts=all	R5848M	--	--	1																																			0,1,1,1	1		unknown(0)	p.R5846M	NM_024690	NP_078966			0,1,1,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		3	17741	-			UPI000065CA24	5848			Thr-rich.|Extracellular (Potential).		SNV	MUC16,missense_variant,p.Arg5846Met,ENST00000397910,NM_024690.2;	uc002mkp.2	c.17537G>T	17741/43816	1	1			c.17537G>T						19	SNP	c.(17536-17538)AGG>ATG	62	62			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9069909		0.488	ENSG00000181143	9791	g.chr19:9069909C>A	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							196.369899	KEEP	40	41	0.50617284	118	111	40	41	0.50617284	209.403116	118	111	0.272401	1	0	0	0	0	1	0	0	0	--	--		0	A				220	GBM-28-5213-TP	p.R5846M	C	AGTGGAGAGCCTGGTGATGGT	NM_024690	NP_078966	9069909	Q8WXI7	MUC16_HUMAN	0			3	17741	-	A	A			Missense_Mutation	5848			Thr-rich.|Extracellular (Potential).			
MUC16	0	broad.mit.edu	GRCh37	19	9075072	9075072	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1980-01	TCGA-32-1980-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.12374C>T	p.Thr4125Met	p.T4125M	ENST00000397910	NM_024690.2	4125	aCg/aTg	0		A:0	1	A:0		A	T/M	uc002mkp.2	protein_coding	YES	CCDS54212.1			12374/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(12373-12375)ACG>ATG				mucin 16		A:0		ENSP00000381008	A:0	Mar-84	9.91E-05							0.000727	rs577056863,COSM3404893,COSM3404892	Mar-84	common_variant		ENST00000397910	Transcript		A:0.0002	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9075072G>A	15582			MODERATE		-0.69	neutral	getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=3942&re=4711&var=T4127M	NA	getma.org/?cm=var&var=hg19,19,9075072,G,A&fts=all	T4127M	--	--	1																																			0,1,1	1		unknown(0)	p.T4125M	NM_024690	NP_078966	A:0.001		0,1,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		3	12578	-			UPI000065CA24	4127			Thr-rich.|Extracellular (Potential).|Ser-rich.		SNV	MUC16,missense_variant,p.Thr4125Met,ENST00000397910,NM_024690.2;	uc002mkp.2	c.12374C>T	12578/43816	1	1			c.12374C>T						19	SNP	c.(12373-12375)ACG>ATG	62	62			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9075072		0.502	ENSG00000181143	9791	g.chr19:9075072G>A	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							-6.253274	KEEP	4	2	-1	34	46	4	2	-1	8.429148	34	46	0.056338	1	0	0	0	0	1	0	0	0	--	--		0	A				231	GBM-32-1980-TP	p.T4125M	G	TCTCTGAGTCGTAGCCAGTGG	NM_024690	NP_078966	9075072	Q8WXI7	MUC16_HUMAN	0			3	12578	-	A	A			Missense_Mutation	4127			Thr-rich.|Extracellular (Potential).|Ser-rich.			
MUC16	0	broad.mit.edu	GRCh37	19	9058871	9058871	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.28575C>A	p.Thr9525=	p.T9525=	ENST00000397910	NM_024690.2	9525	acC/acA	0			1			T	T	uc002mkp.2	protein_coding	YES	CCDS54212.1			28575/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(28573-28575)ACC>ACA				mucin 16				ENSP00000381008		Mar-84									COSM1397903,COSM1397902	Mar-84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9058871G>T	15582			LOW								--	--	1																																			1,1	1			p.T9525T	NM_024690	NP_078966			1,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		3	28779	-			UPI000065CA24	9527			Ser-rich.|Thr-rich.|Extracellular (Potential).		SNV	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;	uc002mkp.2	c.28575C>A	28779/43816	2	2			c.28575C>A						19	SNP	c.(28573-28575)ACC>ACA	45	45			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9058871		0.478	ENSG00000181143	9791	g.chr19:9058871G>T	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							144.901104	KEEP	30	32	0.483870968	105	89	30	32	0.483870968	159.919985	105	89	0.240816	1	0	0	0	0	0	0	1	0	--	--		0	T				232	GBM-32-1982-TP	p.T9525T	G	TAGCACTGGTGGTTTCCACAT	NM_024690	NP_078966	9058871	Q8WXI7	MUC16_HUMAN	0			3	28779	-	T	T			Silent	9527			Ser-rich.|Thr-rich.|Extracellular (Potential).			
MUC16	0	broad.mit.edu	GRCh37	19	9072143	9072143	+	synonymous_variant	Silent	SNP	T	T	A			TCGA-32-2638-01	TCGA-32-2638-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.15303A>T	p.Ser5101=	p.S5101=	ENST00000397910	NM_024690.2	5101	tcA/tcT	0			1			A	S	uc002mkp.2	protein_coding	YES	CCDS54212.1			15303/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(15301-15303)TCA>TCT				mucin 16				ENSP00000381008		Mar-84									COSM3404887,COSM3404888,COSM3404886	Mar-84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9072143T>A	15582			LOW								--	--	1																																			1,1,1	1			p.S5101S	NM_024690	NP_078966			1,1,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		3	15507	-			UPI000065CA24	5103			Thr-rich.|Extracellular (Potential).		SNV	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;	uc002mkp.2	c.15303A>T	15507/43816	2	2			c.15303A>T						19	SNP	c.(15301-15303)TCA>TCT	29	29			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9072143		0.423	ENSG00000181143	9791	g.chr19:9072143T>A	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							171.689763	KEEP	33	36	-1	120	75	33	36	-1	183.163798	120	75	0.268908	1	0	0	0	0	0	0	1	0	--	--		0	A				242	GBM-32-2638-TP	p.S5101S	T	GTATCTTATCTGAGGTGCTGC	NM_024690	NP_078966	9072143	Q8WXI7	MUC16_HUMAN	0			3	15507	-	A	A			Silent	5103			Thr-rich.|Extracellular (Potential).			
MUC16	0	broad.mit.edu	GRCh37	19	9088222	9088222	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs145987902	by1000genomes	TCGA-41-3393-01	TCGA-41-3393-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.3593C>T	p.Thr1198Met	p.T1198M	ENST00000397910	NM_024690.2	1198	aCg/aTg	0	A:0.0009	A:0.0015	1	A:0.0014		A	T/M	uc002mkp.2	protein_coding	YES	CCDS54212.1			3593/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(3592-3594)ACG>ATG				mucin 16		A:0	A:0	ENSP00000381008	A:0	Jan-84	9.91E-05	0.000918	0.000173	0.000116					rs145987902,COSM3404907,COSM3404906	Jan-84	common_variant		ENST00000397910	Transcript		A:0.0006	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9088222G>A	15582			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=1004&re=3903&var=T1198M	NA	getma.org/?cm=var&var=hg19,19,9088222,G,A&fts=all	T1198M	--	--	1																																			0,1,1	1		unknown(0)	p.T1198M	NM_024690	NP_078966	A:0		0,1,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		1	3797	-			UPI000065CA24	1198			Thr-rich.|Extracellular (Potential).		SNV	MUC16,missense_variant,p.Thr1198Met,ENST00000397910,NM_024690.2;	uc002mkp.2	c.3593C>T	3797/43816	2	2			c.3593C>T						19	SNP	c.(3592-3594)ACG>ATG	36	36			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9088222		0.473	ENSG00000181143	9791	g.chr19:9088222G>A	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							295.230511	KEEP	64	55	-1	167	167	64	55	-1	317.230453	167	167	0.263761	1	0	0	0	0	1	0	0	0	--	--		0	A				255	GBM-41-3393-TP	p.T1198M	G	CAAGGAAGTCGTGGAAGGTAA	NM_024690	NP_078966	9088222	Q8WXI7	MUC16_HUMAN	0			1	3797	-	A	A			Missense_Mutation	1198			Thr-rich.|Extracellular (Potential).			
MUC16	0	broad.mit.edu	GRCh37	19	9033637	9033637	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-5651-01	TCGA-41-5651-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397910.4:c.36300C>T	p.Asn12100=	p.N12100=	ENST00000397910	NM_024690.2	12100	aaC/aaT	0	A:0.0002		1			A	N	uc002mkp.2	protein_coding	YES	CCDS54212.1			36300/43524									lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	c.(36298-36300)AAC>AAT			Superfamily_domains:0047452,Gene3D:1ivzA00,Pfam_domain:PF01390,PROSITE_profiles:PS50024,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0,SMART_domains:SM00200	mucin 16			A:0	ENSP00000381008		Sep-84	1.65E-05	0.000102				1.50E-05			rs370710119,COSM3404835	Sep-84	.		ENST00000397910	Transcript			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	ENSG00000181143	g.chr19:9033637G>A	15582			LOW								--	--	1																																			0,1	1			p.N12100N	NM_024690	NP_078966			0,1		MUC16	HGNC	Q8WXI7	MUC16_HUMAN			F8WE81_HUMAN,B5ME49_HUMAN		9	36504	-			UPI000065CA24	12102			SEA 1.|Extracellular (Potential).		SNV	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;	uc002mkp.2	c.36300C>T	36504/43816	1	1			c.36300C>T						19	SNP	c.(36298-36300)AAC>AAT	52	52			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57	Broad	mucin 16			9033637		0.597	ENSG00000181143	9791	g.chr19:9033637G>A	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding							59.123085	KEEP	12	14	-1	30	29	12	14	-1	61.694585	30	29	0.30137	1	0	0	0	0	0	0	1	0	--	--		0	A				258	GBM-41-5651-TP	p.N12100N	G	TCTCTGTGGCGTTGAACTTCC	NM_024690	NP_078966	9033637	Q8WXI7	MUC16_HUMAN	0			9	36504	-	A	A			Silent	12102			SEA 1.|Extracellular (Potential).			
MUC16	94025		GRCh37	19	9003616	9003616	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0240-01	TCGA-06-0240-01																				ENST00000397910.4:c.40024C>T	p.Arg13342Cys	p.R13342C	ENST00000397910	NM_024690.2	13342	Cgc/Tgc	0																																																																																																																																																																																																																																												
MUC16	94025		GRCh37	19	9056233	9056233	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000397910.4:c.31213G>A	p.Val10405Ile	p.V10405I	ENST00000397910	NM_024690.2	10405	Gtt/Att	0																																																																																																																																																																																																																																												
MUC16	94025		GRCh37	19	9020077	9020077	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000397910.4:c.37418G>A	p.Arg12473Lys	p.R12473K	ENST00000397910	NM_024690.2	12473	aGa/aAa	0																																																																																																																																																																																																																																												
MUC16	94025		GRCh37	19	9069613	9069613	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000397910.4:c.17833G>A	p.Ala5945Thr	p.A5945T	ENST00000397910	NM_024690.2	5945	Gca/Aca	0																																																																																																																																																																																																																																												
MUC16	94025		GRCh37	19	9047753	9047753	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000397910.4:c.33878C>T	p.Pro11293Leu	p.P11293L	ENST00000397910	NM_024690.2	11293	cCt/cTt	0																																																																																																																																																																																																																																												
MUC16	94025		GRCh37	19	9047128	9047128	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000397910.4:c.34503G>C	p.Met11501Ile	p.M11501I	ENST00000397910	NM_024690.2	11501	atG/atC	0																																																																																																																																																																																																																																												
MUC16	94025		GRCh37	19	9082859	9082859	+	stop_gained	Nonsense_Mutation	SNP	T	T	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000397910.4:c.8956A>T	p.Arg2986Ter	p.R2986*	ENST00000397910	NM_024690.2	2986	Aga/Tga	0																																																																																																																																																																																																																																												
MUC16	94025		GRCh37	19	9089511	9089511	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000397910.4:c.2304C>T	p.Ala768=	p.A768=	ENST00000397910	NM_024690.2	768	gcC/gcT	0																																																																																																																																																																																																																																												
MUC17	140453	broad.mit.edu	GRCh37	7	100677039	100677039	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-0003-01	TCGA-02-0003-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306151.4:c.2342C>T	p.Ser781Phe	p.S781F	ENST00000306151	NM_001040105.1	781	tCt/tTt	0			1			T	S/F	uc003uxp.1	protein_coding	YES	CCDS34711.1			2342/13482									ovary(14)|skin(8)|breast(3)|lung(2)	27	c.(2341-2343)TCT>TTT				mucin 17 precursor				ENSP00000302716		13-Mar									COSM2148932	13-Mar	.		ENST00000306151	Transcript				extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	ENSG00000169876	g.chr7:100677039C>T	16800			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=MUC17_HUMAN&rb=61&re=3889&var=S781F	NA	getma.org/?cm=var&var=hg19,7,100677039,C,T&fts=all	S781F	--	--	1																																		MUC17_uc010lho.1_RNA	1	1		unknown(0)	p.S781F	NM_001040105	NP_001035194			1	MUC17_HUMAN	MUC17	HGNC	Q685J3	MUC17_HUMAN			A1A4F7_HUMAN		3	2395	+	Lung NSC(181;0.136)|all_lung(186;0.182)		UPI0000D5BB56	781			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|11.		SNV	MUC17,missense_variant,p.Ser781Phe,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ser781Phe,ENST00000379439,;	uc003uxp.1	c.2342C>T	2406/14241	2	2			c.2342C>T						7	SNP	c.(2341-2343)TCT>TTT	17	17			ovary(14)|skin(8)|breast(3)|lung(2)	27	Broad	mucin 17 precursor			100677039		0.458	ENSG00000169876	9792	g.chr7:100677039C>T		extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity							636.121768	KEEP	117	136	-1	281	384	117	136	-1	675.519387	281	384	0.276765	1	0	0	0	0	1	0	0	0	--	--		0	T			MUC17_uc010lho.1_RNA	1	GBM-02-0003-TP	p.S781F	C	ATCACCACTTCTACTGAAGCC	NM_001040105	NP_001035194	100677039	Q685J3	MUC17_HUMAN	0			3	2395	+	T	T	Lung NSC(181;0.136)|all_lung(186;0.182)		Missense_Mutation	781			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|11.			
MUC17	140453	broad.mit.edu	GRCh37	7	100681607	100681607	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0124-01	TCGA-06-0124-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306151.4:c.6910G>C	p.Val2304Leu	p.V2304L	ENST00000306151	NM_001040105.1	2304	Gtt/Ctt	0			1			C	V/L	uc003uxp.1	protein_coding	YES	CCDS34711.1			6910/13482									ovary(14)|skin(8)|breast(3)|lung(2)	27	c.(6910-6912)GTT>CTT				mucin 17 precursor				ENSP00000302716		13-Mar									COSM3411400	13-Mar	.		ENST00000306151	Transcript				extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	ENSG00000169876	g.chr7:100681607G>C	16800			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=MUC17_HUMAN&rb=61&re=3889&var=V2304L	NA	getma.org/?cm=var&var=hg19,7,100681607,G,C&fts=all	V2304L	--	--	1																																		MUC17_uc010lho.1_RNA	1	1		unknown(0)	p.V2304L	NM_001040105	NP_001035194			1	MUC17_HUMAN	MUC17	HGNC	Q685J3	MUC17_HUMAN			A1A4F7_HUMAN		3	6963	+	Lung NSC(181;0.136)|all_lung(186;0.182)		UPI0000D5BB56	2304			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|36.		SNV	MUC17,missense_variant,p.Val2304Leu,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Val2304Leu,ENST00000379439,;	uc003uxp.1	c.6910G>C	6974/14241	4	4			c.6910G>C						7	SNP	c.(6910-6912)GTT>CTT	37	37			ovary(14)|skin(8)|breast(3)|lung(2)	27	Broad	mucin 17 precursor			100681607		0.473	ENSG00000169876	9792	g.chr7:100681607G>C		extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity							238.666374	KEEP	57	39	-1	226	183	57	39	-1	279.842751	226	183	0.197095	1	0	0	0	0	1	0	0	0	--	--		0	C			MUC17_uc010lho.1_RNA	11	GBM-06-0124-TP	p.V2304L	G	AACAACTCCTGTTGACTCCAA	NM_001040105	NP_001035194	100681607	Q685J3	MUC17_HUMAN	0			3	6963	+	C	C	Lung NSC(181;0.136)|all_lung(186;0.182)		Missense_Mutation	2304			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|36.			
MUC17	140453	broad.mit.edu	GRCh37	7	100678176	100678176	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0168-01	TCGA-06-0168-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306151.4:c.3479C>G	p.Thr1160Ser	p.T1160S	ENST00000306151	NM_001040105.1	1160	aCt/aGt	0			1			G	T/S	uc003uxp.1	protein_coding	YES	CCDS34711.1			3479/13482									ovary(14)|skin(8)|breast(3)|lung(2)	27	c.(3478-3480)ACT>AGT				mucin 17 precursor				ENSP00000302716		13-Mar									COSM3411398	13-Mar	.		ENST00000306151	Transcript				extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	ENSG00000169876	g.chr7:100678176C>G	16800			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=MUC17_HUMAN&rb=61&re=3889&var=T1160S	NA	getma.org/?cm=var&var=hg19,7,100678176,C,G&fts=all	T1160S	--	--	1																																		MUC17_uc010lho.1_RNA	1	1		unknown(0)	p.T1160S	NM_001040105	NP_001035194			1	MUC17_HUMAN	MUC17	HGNC	Q685J3	MUC17_HUMAN			A1A4F7_HUMAN		3	3532	+	Lung NSC(181;0.136)|all_lung(186;0.182)		UPI0000D5BB56	1160			Extracellular (Potential).|59 X approximate tandem repeats.|17.|Ser-rich.		SNV	MUC17,missense_variant,p.Thr1160Ser,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Thr1160Ser,ENST00000379439,;	uc003uxp.1	c.3479C>G	3543/14241	3	3			c.3479C>G						7	SNP	c.(3478-3480)ACT>AGT	8	8			ovary(14)|skin(8)|breast(3)|lung(2)	27	Broad	mucin 17 precursor			100678176		0.522	ENSG00000169876	9792	g.chr7:100678176C>G		extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity							-132.447889	KEEP	6	5	-1	330	348	6	5	-1	22.866313	330	348	0.018487	1	0	0	0	0	1	0	0	0	--	--		0	G			MUC17_uc010lho.1_RNA	33	GBM-06-0168-TP	p.T1160S	C	GAAGGAACCACTCCGTTAGCA	NM_001040105	NP_001035194	100678176	Q685J3	MUC17_HUMAN	0			3	3532	+	G	G	Lung NSC(181;0.136)|all_lung(186;0.182)		Missense_Mutation	1160			Extracellular (Potential).|59 X approximate tandem repeats.|17.|Ser-rich.			
MUC17	140453	broad.mit.edu	GRCh37	7	100678917	100678917	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0650-01	TCGA-06-0650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306151.4:c.4220C>T	p.Pro1407Leu	p.P1407L	ENST00000306151	NM_001040105.1	1407	cCg/cTg	0			1			T	P/L	uc003uxp.1	protein_coding	YES	CCDS34711.1			4220/13482									ovary(14)|skin(8)|breast(3)|lung(2)	27	c.(4219-4221)CCG>CTG			Low_complexity_(Seg):seg	mucin 17 precursor				ENSP00000302716		13-Mar	4.94E-05							0.000386	rs759205801,COSM1215871	13-Mar	.		ENST00000306151	Transcript				extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	ENSG00000169876	g.chr7:100678917C>T	16800			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=MUC17_HUMAN&rb=61&re=3889&var=P1407L	NA	getma.org/?cm=var&var=hg19,7,100678917,C,T&fts=all	P1407L	--	--	1																																		MUC17_uc010lho.1_RNA	0,1	1		unknown(0)	p.P1407L	NM_001040105	NP_001035194			0,1	MUC17_HUMAN	MUC17	HGNC	Q685J3	MUC17_HUMAN			A1A4F7_HUMAN		3	4273	+	Lung NSC(181;0.136)|all_lung(186;0.182)		UPI0000D5BB56	1407			Extracellular (Potential).|59 X approximate tandem repeats.|21.|Ser-rich.		SNV	MUC17,missense_variant,p.Pro1407Leu,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Pro1407Leu,ENST00000379439,;	uc003uxp.1	c.4220C>T	4284/14241	1	1			c.4220C>T						7	SNP	c.(4219-4221)CCG>CTG	16	16			ovary(14)|skin(8)|breast(3)|lung(2)	27	Broad	mucin 17 precursor			100678917		0.512	ENSG00000169876	9792	g.chr7:100678917C>T		extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity							47.965004	KEEP	20	28	-1	198	222	20	28	-1	106.738114	198	222	0.108527	1	0	0	0	0	1	0	0	0	--	--		0	T			MUC17_uc010lho.1_RNA	63	GBM-06-0650-TP	p.P1407L	C	AGCACCACGCCGGTAGTCAGT	NM_001040105	NP_001035194	100678917	Q685J3	MUC17_HUMAN	0			3	4273	+	T	T	Lung NSC(181;0.136)|all_lung(186;0.182)		Missense_Mutation	1407			Extracellular (Potential).|59 X approximate tandem repeats.|21.|Ser-rich.			
MUC17	140453	broad.mit.edu	GRCh37	7	100675948	100675948	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0744-01	TCGA-06-0744-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306151.4:c.1251T>C	p.Pro417=	p.P417=	ENST00000306151	NM_001040105.1	417	ccT/ccC	0			1			C	P	uc003uxp.1	protein_coding	YES	CCDS34711.1			1251/13482									ovary(14)|skin(8)|breast(3)|lung(2)	27	c.(1249-1251)CCT>CCC				mucin 17 precursor				ENSP00000302716		13-Mar									COSM2151657	13-Mar	.		ENST00000306151	Transcript				extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	ENSG00000169876	g.chr7:100675948T>C	16800			LOW								--	--	1																																		MUC17_uc010lho.1_RNA	1	1			p.P417P	NM_001040105	NP_001035194			1	MUC17_HUMAN	MUC17	HGNC	Q685J3	MUC17_HUMAN			A1A4F7_HUMAN		3	1304	+	Lung NSC(181;0.136)|all_lung(186;0.182)		UPI0000D5BB56	417			Extracellular (Potential).|59 X approximate tandem repeats.|4.|Ser-rich.		SNV	MUC17,synonymous_variant,p.=,ENST00000306151,NM_001040105.1;MUC17,synonymous_variant,p.=,ENST00000379439,;	uc003uxp.1	c.1251T>C	1315/14241	3	3			c.1251T>C						7	SNP	c.(1249-1251)CCT>CCC	64	64			ovary(14)|skin(8)|breast(3)|lung(2)	27	Broad	mucin 17 precursor			100675948		0.458	ENSG00000169876	9792	g.chr7:100675948T>C		extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity							346.03433	KEEP	61	68	-1	187	152	61	68	-1	365.840632	187	152	0.279736	1	0	0	0	0	0	0	1	0	--	--		0	C			MUC17_uc010lho.1_RNA	66	GBM-06-0744-TP	p.P417P	T	CAACAATTCCTGTTGACTCCA	NM_001040105	NP_001035194	100675948	Q685J3	MUC17_HUMAN	0			3	1304	+	C	C	Lung NSC(181;0.136)|all_lung(186;0.182)		Silent	417			Extracellular (Potential).|59 X approximate tandem repeats.|4.|Ser-rich.			
MUC17	140453	broad.mit.edu	GRCh37	7	100679249	100679249	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0939-01	TCGA-06-0939-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306151.4:c.4552A>G	p.Ser1518Gly	p.S1518G	ENST00000306151	NM_001040105.1	1518	Agt/Ggt	0			1			G	S/G	uc003uxp.1	protein_coding	YES	CCDS34711.1			4552/13482									ovary(14)|skin(8)|breast(3)|lung(2)	27	c.(4552-4554)AGT>GGT				mucin 17 precursor				ENSP00000302716		13-Mar	2.47E-05							0.000184	rs771440942,COSM2152426	13-Mar	.		ENST00000306151	Transcript				extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	ENSG00000169876	g.chr7:100679249A>G	16800			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=MUC17_HUMAN&rb=61&re=3889&var=S1518G	NA	getma.org/?cm=var&var=hg19,7,100679249,A,G&fts=all	S1518G	--	--	1																																		MUC17_uc010lho.1_RNA	0,1	1		unknown(0)	p.S1518G	NM_001040105	NP_001035194			0,1	MUC17_HUMAN	MUC17	HGNC	Q685J3	MUC17_HUMAN			A1A4F7_HUMAN		3	4605	+	Lung NSC(181;0.136)|all_lung(186;0.182)		UPI0000D5BB56	1518			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|23.		SNV	MUC17,missense_variant,p.Ser1518Gly,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ser1518Gly,ENST00000379439,;	uc003uxp.1	c.4552A>G	4616/14241	3	3			c.4552A>G						7	SNP	c.(4552-4554)AGT>GGT	55	55			ovary(14)|skin(8)|breast(3)|lung(2)	27	Broad	mucin 17 precursor			100679249		0.483	ENSG00000169876	9792	g.chr7:100679249A>G		extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity							230.178318	KEEP	40	49	-1	158	191	40	49	-1	260.042933	158	191	0.209424	1	0	0	0	0	1	0	0	0	--	--		0	G			MUC17_uc010lho.1_RNA	78	GBM-06-0939-TP	p.S1518G	A	TGCATTAACAAGTATACCTGT	NM_001040105	NP_001035194	100679249	Q685J3	MUC17_HUMAN	0			3	4605	+	G	G	Lung NSC(181;0.136)|all_lung(186;0.182)		Missense_Mutation	1518			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|23.			
MUC17	140453	broad.mit.edu	GRCh37	7	100678887	100678887	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs141608296		TCGA-06-2557-01	TCGA-06-2557-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306151.4:c.4190C>T	p.Pro1397Leu	p.P1397L	ENST00000306151	NM_001040105.1	1397	cCg/cTg	0	G:0	T:0.0008	1	T:0		T	P/L	uc003uxp.1	protein_coding	YES	CCDS34711.1			4190/13482									ovary(14)|skin(8)|breast(3)|lung(2)	27	c.(4189-4191)CCG>CTG			Low_complexity_(Seg):seg	mucin 17 precursor		T:0	G:0.0001	ENSP00000302716	T:0	13-Mar	0.000107	9.61E-05		0.000347	0.000454	7.51E-05	0.0011		rs141608296,COSM1547599	13-Mar	common_variant		ENST00000306151	Transcript		T:0.0002		extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	ENSG00000169876	g.chr7:100678887C>T	16800			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=MUC17_HUMAN&rb=61&re=3889&var=P1397L	NA	getma.org/?cm=var&var=hg19,7,100678887,C,T&fts=all	P1397L	--	--	1																																		MUC17_uc010lho.1_RNA	0,1	1		unknown(0)	p.P1397L	NM_001040105	NP_001035194	T:0		0,1	MUC17_HUMAN	MUC17	HGNC	Q685J3	MUC17_HUMAN			A1A4F7_HUMAN		3	4243	+	Lung NSC(181;0.136)|all_lung(186;0.182)		UPI0000D5BB56	1397			Extracellular (Potential).|59 X approximate tandem repeats.|21.|Ser-rich.		SNV	MUC17,missense_variant,p.Pro1397Leu,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Pro1397Leu,ENST00000379439,;	uc003uxp.1	c.4190C>T	4254/14241	1	1			c.4190C>T						7	SNP	c.(4189-4191)CCG>CTG	1	1			ovary(14)|skin(8)|breast(3)|lung(2)	27	Broad	mucin 17 precursor			100678887		0.507	ENSG00000169876	9792	g.chr7:100678887C>T		extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity							244.872594	KEEP	65	51	-1	249	271	65	51	-1	300.74581	249	271	0.181973	1	0	0	0	0	1	0	0	0	--	--		0	T			MUC17_uc010lho.1_RNA	81	GBM-06-2557-TP	p.P1397L	C	GGAACCACTCCGTTAACAAGT	NM_001040105	NP_001035194	100678887	Q685J3	MUC17_HUMAN	0			3	4243	+	T	T	Lung NSC(181;0.136)|all_lung(186;0.182)		Missense_Mutation	1397			Extracellular (Potential).|59 X approximate tandem repeats.|21.|Ser-rich.			
MUC17	140453	broad.mit.edu	GRCh37	7	100680821	100680821	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306151.4:c.6124C>T	p.Arg2042Trp	p.R2042W	ENST00000306151	NM_001040105.1	2042	Cgg/Tgg	0			1			T	R/W	uc003uxp.1	protein_coding	YES	CCDS34711.1			6124/13482									ovary(14)|skin(8)|breast(3)|lung(2)	27	c.(6124-6126)CGG>TGG				mucin 17 precursor				ENSP00000302716		13-Mar	3.29E-05		8.64E-05			4.51E-05			rs747536666,COSM484517	13-Mar	.		ENST00000306151	Transcript				extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	ENSG00000169876	g.chr7:100680821C>T	16800			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=MUC17_HUMAN&rb=61&re=3889&var=R2042W	NA	getma.org/?cm=var&var=hg19,7,100680821,C,T&fts=all	R2042W	--	--	1																																		MUC17_uc010lho.1_RNA	0,1	1		unknown(0)	p.R2042W	NM_001040105	NP_001035194			0,1	MUC17_HUMAN	MUC17	HGNC	Q685J3	MUC17_HUMAN			A1A4F7_HUMAN		3	6177	+	Lung NSC(181;0.136)|all_lung(186;0.182)		UPI0000D5BB56	2042			Extracellular (Potential).|32.|59 X approximate tandem repeats.|Ser-rich.		SNV	MUC17,missense_variant,p.Arg2042Trp,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Arg2042Trp,ENST00000379439,;	uc003uxp.1	c.6124C>T	6188/14241	2	2			c.6124C>T						7	SNP	c.(6124-6126)CGG>TGG	35	35			ovary(14)|skin(8)|breast(3)|lung(2)	27	Broad	mucin 17 precursor			100680821		0.502	ENSG00000169876	9792	g.chr7:100680821C>T		extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity							195.584634	KEEP	48	51	-1	219	189	48	51	-1	235.133403	219	189	0.199575	1	0	0	0	0	1	0	0	0	--	--		0	T			MUC17_uc010lho.1_RNA	100	GBM-06-5418-TP	p.R2042W	C	TCCTAGTGAACGGACCACTCC	NM_001040105	NP_001035194	100680821	Q685J3	MUC17_HUMAN	0			3	6177	+	T	T	Lung NSC(181;0.136)|all_lung(186;0.182)		Missense_Mutation	2042			Extracellular (Potential).|32.|59 X approximate tandem repeats.|Ser-rich.			
MUC17	140453	broad.mit.edu	GRCh37	7	100684307	100684308	+	inframe_insertion	In_Frame_Ins	INS	-	-	CTC			TCGA-06-5418-01	TCGA-06-5418-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306151.4:c.9612_9613insCCT	p.Ser3204_Thr3205insPro	p.S3204_T3205insP	ENST00000306151	NM_001040105.1	3204	tct/tCTCct	0			1			CTC	S/SP	uc003uxp.1	protein_coding	YES	CCDS34711.1			9610-9611/13482									ovary(14)|skin(8)|breast(3)|lung(2)	27	c.(9610-9612)TCT>TCTCCT			Low_complexity_(Seg):seg	mucin 17 precursor				ENSP00000302716		13-Mar									rs777148788	13-Mar	.		ENST00000306151	Transcript				extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	ENSG00000169876	g.chr7:100684307_100684308insCTC	16800	2		MODERATE								--	--	1																																		MUC17_uc010lho.1_RNA		1			p.3204_3205insP	NM_001040105	NP_001035194				MUC17_HUMAN	MUC17	HGNC	Q685J3	MUC17_HUMAN			A1A4F7_HUMAN		3	9663_9664	+	Lung NSC(181;0.136)|all_lung(186;0.182)		UPI0000D5BB56	3204_3205			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|52.		insertion	MUC17,inframe_insertion,p.Ser3204_Thr3205insPro,ENST00000306151,NM_001040105.1;MUC17,inframe_insertion,p.Ser3204_Thr3205insPro,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,;	uc003uxp.1	c.9610_9611insCTC	9674-9675/14241	5	5			c.9610_9611insCTC						7	INS	c.(9610-9612)TCT>TCTCCT	12	12			ovary(14)|skin(8)|breast(3)|lung(2)	27	Broad	mucin 17 precursor			100684308		0.5	ENSG00000169876	9792	g.chr7:100684307_100684308insCTC		extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity																				0.01	1	0	0	1	1	0	0	0	0	--	--		0	CTC			MUC17_uc010lho.1_RNA	100	GBM-06-5418-TP	p.3204_3205insP	-	AGCCACTTCATCTACAACTGCT	NM_001040105	NP_001035194	100684307	Q685J3	MUC17_HUMAN	0			3	9663_9664	+	CTC	CTC	Lung NSC(181;0.136)|all_lung(186;0.182)		In_Frame_Ins	3204_3205			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|52.			
MUC17	0	broad.mit.edu	GRCh37	7	100687031	100687031	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01	TCGA-12-0821-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306151.4:c.12334G>A	p.Ala4112Thr	p.A4112T	ENST00000306151	NM_001040105.1	4112	Gct/Act	0			1			A	A/T	uc003uxp.1	protein_coding	YES	CCDS34711.1			12334/13482									ovary(14)|skin(8)|breast(3)|lung(2)	27	c.(12334-12336)GCT>ACT			Low_complexity_(Seg):seg	mucin 17 precursor				ENSP00000302716		13-Mar	1.65E-05					1.50E-05		6.07E-05	rs751624526,COSM3411405	13-Mar	.		ENST00000306151	Transcript				extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	ENSG00000169876	g.chr7:100687031G>A	16800			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=MUC17_HUMAN&rb=3891&re=4129&var=A4112T	NA	getma.org/?cm=var&var=hg19,7,100687031,G,A&fts=all	A4112T	--	--	1																																		MUC17_uc010lho.1_RNA	0,1	1		unknown(0)	p.A4112T	NM_001040105	NP_001035194			0,1	MUC17_HUMAN	MUC17	HGNC	Q685J3	MUC17_HUMAN			A1A4F7_HUMAN		3	12387	+	Lung NSC(181;0.136)|all_lung(186;0.182)		UPI0000D5BB56	4112			Extracellular (Potential).		SNV	MUC17,missense_variant,p.Ala4112Thr,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ala4112Thr,ENST00000379439,;MUC17,non_coding_transcript_exon_variant,,ENST00000470303,;	uc003uxp.1	c.12334G>A	12398/14241	2	2			c.12334G>A						7	SNP	c.(12334-12336)GCT>ACT	41	41			ovary(14)|skin(8)|breast(3)|lung(2)	27	Broad	mucin 17 precursor			100687031		0.498	ENSG00000169876	9792	g.chr7:100687031G>A		extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity							239.343473	KEEP	60	44	-1	127	114	60	44	-1	249.482044	127	114	0.304054	1	0	0	0	0	1	0	0	0	--	--		0	A			MUC17_uc010lho.1_RNA	123	GBM-12-0821-TP	p.A4112T	G	GACCACCACCGCTGTCCCCAC	NM_001040105	NP_001035194	100687031	Q685J3	MUC17_HUMAN	0			3	12387	+	A	A	Lung NSC(181;0.136)|all_lung(186;0.182)		Missense_Mutation	4112			Extracellular (Potential).			
MUC17	0	broad.mit.edu	GRCh37	7	100677499	100677499	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-1395-01	TCGA-14-1395-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306151.4:c.2802G>A	p.Thr934=	p.T934=	ENST00000306151	NM_001040105.1	934	acG/acA	0		A:0	1	A:0		A	T	uc003uxp.1	protein_coding	YES	CCDS34711.1			2802/13482									ovary(14)|skin(8)|breast(3)|lung(2)	27	c.(2800-2802)ACG>ACA				mucin 17 precursor		A:0.001		ENSP00000302716	A:0	13-Mar	7.41E-05			0.000462		5.99E-05		6.06E-05	rs563806733,COSM3411396	13-Mar	common_variant		ENST00000306151	Transcript		A:0.0002		extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	ENSG00000169876	g.chr7:100677499G>A	16800			LOW								--	--	1																																		MUC17_uc010lho.1_RNA	0,1	1			p.T934T	NM_001040105	NP_001035194	A:0		0,1	MUC17_HUMAN	MUC17	HGNC	Q685J3	MUC17_HUMAN			A1A4F7_HUMAN		3	2855	+	Lung NSC(181;0.136)|all_lung(186;0.182)		UPI0000D5BB56	934			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|13.		SNV	MUC17,synonymous_variant,p.=,ENST00000306151,NM_001040105.1;MUC17,synonymous_variant,p.=,ENST00000379439,;	uc003uxp.1	c.2802G>A	2866/14241	1	1			c.2802G>A						7	SNP	c.(2800-2802)ACG>ACA	49	49			ovary(14)|skin(8)|breast(3)|lung(2)	27	Broad	mucin 17 precursor			100677499		0.512	ENSG00000169876	9792	g.chr7:100677499G>A		extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity							-178.802049	KEEP	4	7	-1	394	358	4	7	-1	10.658027	394	358	0.012894	1	0	0	0	0	0	0	1	0	--	--		0	A			MUC17_uc010lho.1_RNA	144	GBM-14-1395-TP	p.T934T	G	ACAGCACCACGCCGGTAGTCA	NM_001040105	NP_001035194	100677499	Q685J3	MUC17_HUMAN	0			3	2855	+	A	A	Lung NSC(181;0.136)|all_lung(186;0.182)		Silent	934			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|13.			
MUC17	0	broad.mit.edu	GRCh37	7	100685376	100685376	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-14-1823-01	TCGA-14-1823-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306151.4:c.10679C>G	p.Thr3560Ser	p.T3560S	ENST00000306151	NM_001040105.1	3560	aCt/aGt	0			1			G	T/S	uc003uxp.1	protein_coding	YES	CCDS34711.1			10679/13482									ovary(14)|skin(8)|breast(3)|lung(2)	27	c.(10678-10680)ACT>AGT				mucin 17 precursor				ENSP00000302716		13-Mar									COSM3411404	13-Mar	.		ENST00000306151	Transcript				extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	ENSG00000169876	g.chr7:100685376C>G	16800			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=MUC17_HUMAN&rb=61&re=3889&var=T3560S	NA	getma.org/?cm=var&var=hg19,7,100685376,C,G&fts=all	T3560S	--	--	1																																		MUC17_uc010lho.1_RNA	1	1		benign(0.058)	p.T3560S	NM_001040105	NP_001035194			1	MUC17_HUMAN	MUC17	HGNC	Q685J3	MUC17_HUMAN			A1A4F7_HUMAN		3	10732	+	Lung NSC(181;0.136)|all_lung(186;0.182)		UPI0000D5BB56	3560			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.		SNV	MUC17,missense_variant,p.Thr3560Ser,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Thr3560Ser,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,;	uc003uxp.1	c.10679C>G	10743/14241	4	4			c.10679C>G						7	SNP	c.(10678-10680)ACT>AGT	17	17			ovary(14)|skin(8)|breast(3)|lung(2)	27	Broad	mucin 17 precursor			100685376		0.478	ENSG00000169876	9792	g.chr7:100685376C>G		extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity							278.921722	KEEP	82	50	-1	308	243	82	50	-1	322.233233	308	243	0.199612	1	0	0	0	0	1	0	0	0	--	--		0	G			MUC17_uc010lho.1_RNA	147	GBM-14-1823-TP	p.T3560S	C	TCTCCAGCAACTCTTCAGGTC	NM_001040105	NP_001035194	100685376	Q685J3	MUC17_HUMAN	0			3	10732	+	G	G	Lung NSC(181;0.136)|all_lung(186;0.182)		Missense_Mutation	3560			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.			
MUC17	0	broad.mit.edu	GRCh37	7	100674925	100674925	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306151.4:c.228C>T	p.Val76=	p.V76=	ENST00000306151	NM_001040105.1	76	gtC/gtT	0			1			T	V	uc003uxp.1	protein_coding	YES	CCDS34711.1			228/13482									ovary(14)|skin(8)|breast(3)|lung(2)	27	c.(226-228)GTC>GTT				mucin 17 precursor				ENSP00000302716		13-Mar	1.65E-05					1.56E-05		0.000108	rs755764209,COSM3411393	13-Mar	.		ENST00000306151	Transcript				extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	ENSG00000169876	g.chr7:100674925C>T	16800			LOW								--	--	1																																		MUC17_uc010lho.1_RNA	0,1	1			p.V76V	NM_001040105	NP_001035194			0,1	MUC17_HUMAN	MUC17	HGNC	Q685J3	MUC17_HUMAN			A1A4F7_HUMAN		3	281	+	Lung NSC(181;0.136)|all_lung(186;0.182)		UPI0000D5BB56	76			Extracellular (Potential).		SNV	MUC17,synonymous_variant,p.=,ENST00000306151,NM_001040105.1;MUC17,synonymous_variant,p.=,ENST00000379439,;	uc003uxp.1	c.228C>T	292/14241	2	2			c.228C>T						7	SNP	c.(226-228)GTC>GTT	37	37			ovary(14)|skin(8)|breast(3)|lung(2)	27	Broad	mucin 17 precursor			100674925		0.453	ENSG00000169876	9792	g.chr7:100674925C>T		extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity							30.239193	KEEP	12	5	-1	57	49	12	5	-1	39.694674	57	49	0.172043	1	0	0	0	0	0	0	1	0	--	--		0	T			MUC17_uc010lho.1_RNA	160	GBM-19-1790-TP	p.V76V	C	CTACAAATGTCGTGGAGCCAA	NM_001040105	NP_001035194	100674925	Q685J3	MUC17_HUMAN	0			3	281	+	T	T	Lung NSC(181;0.136)|all_lung(186;0.182)		Silent	76			Extracellular (Potential).			
MUC17	0	broad.mit.edu	GRCh37	7	100685627	100685627	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-5954-01	TCGA-19-5954-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306151.4:c.10930A>G	p.Thr3644Ala	p.T3644A	ENST00000306151	NM_001040105.1	3644	Acc/Gcc	0			1			G	T/A	uc003uxp.1	protein_coding	YES	CCDS34711.1			10930/13482									ovary(14)|skin(8)|breast(3)|lung(2)	27	c.(10930-10932)ACC>GCC				mucin 17 precursor				ENSP00000302716		13-Mar									rs199996089,COSM2156772	13-Mar	.		ENST00000306151	Transcript				extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	ENSG00000169876	g.chr7:100685627A>G	16800			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=MUC17_HUMAN&rb=61&re=3889&var=T3644A	NA	getma.org/?cm=var&var=hg19,7,100685627,A,G&fts=all	T3644A	--	--	1																																		MUC17_uc010lho.1_RNA	0,1	1		benign(0.217)	p.T3644A	NM_001040105	NP_001035194			0,1	MUC17_HUMAN	MUC17	HGNC	Q685J3	MUC17_HUMAN			A1A4F7_HUMAN		3	10983	+	Lung NSC(181;0.136)|all_lung(186;0.182)		UPI0000D5BB56	3644			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|58.		SNV	MUC17,missense_variant,p.Thr3644Ala,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Thr3644Ala,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,;	uc003uxp.1	c.10930A>G	10994/14241	3	3			c.10930A>G						7	SNP	c.(10930-10932)ACC>GCC	9	9			ovary(14)|skin(8)|breast(3)|lung(2)	27	Broad	mucin 17 precursor			100685627		0.478	ENSG00000169876	9792	g.chr7:100685627A>G		extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity							103.571729	KEEP	14	27	-1	48	57	14	27	-1	109.117888	48	57	0.286765	1	0	0	0	0	1	0	0	0	--	--		0	G			MUC17_uc010lho.1_RNA	174	GBM-19-5954-TP	p.T3644A	A	GCCTGTCAGCACCACATCGGT	NM_001040105	NP_001035194	100685627	Q685J3	MUC17_HUMAN	0			3	10983	+	G	G	Lung NSC(181;0.136)|all_lung(186;0.182)		Missense_Mutation	3644			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|58.			
MUC17	0	broad.mit.edu	GRCh37	7	100684307	100684308	+	inframe_insertion	In_Frame_Ins	INS	-	-	CTC			TCGA-26-1439-01	TCGA-26-1439-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306151.4:c.9612_9613insCCT	p.Ser3204_Thr3205insPro	p.S3204_T3205insP	ENST00000306151	NM_001040105.1	3204	tct/tCTCct	0			1			CTC	S/SP	uc003uxp.1	protein_coding	YES	CCDS34711.1			9610-9611/13482									ovary(14)|skin(8)|breast(3)|lung(2)	27	c.(9610-9612)TCT>TCTCCT			Low_complexity_(Seg):seg	mucin 17 precursor				ENSP00000302716		13-Mar									rs777148788	13-Mar	.		ENST00000306151	Transcript				extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	ENSG00000169876	g.chr7:100684307_100684308insCTC	16800	2		MODERATE								--	--	1																																		MUC17_uc010lho.1_RNA		1			p.3204_3205insP	NM_001040105	NP_001035194				MUC17_HUMAN	MUC17	HGNC	Q685J3	MUC17_HUMAN			A1A4F7_HUMAN		3	9663_9664	+	Lung NSC(181;0.136)|all_lung(186;0.182)		UPI0000D5BB56	3204_3205			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|52.		insertion	MUC17,inframe_insertion,p.Ser3204_Thr3205insPro,ENST00000306151,NM_001040105.1;MUC17,inframe_insertion,p.Ser3204_Thr3205insPro,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,;	uc003uxp.1	c.9610_9611insCTC	9674-9675/14241	5	5			c.9610_9611insCTC						7	INS	c.(9610-9612)TCT>TCTCCT	12	12			ovary(14)|skin(8)|breast(3)|lung(2)	27	Broad	mucin 17 precursor			100684308		0.5	ENSG00000169876	9792	g.chr7:100684307_100684308insCTC		extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity																				0.01	1	0	0	1	1	0	0	0	0	--	--		0	CTC			MUC17_uc010lho.1_RNA	179	GBM-26-1439-TP	p.3204_3205insP	-	AGCCACTTCATCTACAACTGCT	NM_001040105	NP_001035194	100684307	Q685J3	MUC17_HUMAN	0			3	9663_9664	+	CTC	CTC	Lung NSC(181;0.136)|all_lung(186;0.182)		In_Frame_Ins	3204_3205			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|52.			
MUC17	0	broad.mit.edu	GRCh37	7	100683180	100683180	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2523-01	TCGA-27-2523-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306151.4:c.8483G>A	p.Gly2828Asp	p.G2828D	ENST00000306151	NM_001040105.1	2828	gGc/gAc	0			1			A	G/D	uc003uxp.1	protein_coding	YES	CCDS34711.1			8483/13482									ovary(14)|skin(8)|breast(3)|lung(2)	27	c.(8482-8484)GGC>GAC				mucin 17 precursor				ENSP00000302716		13-Mar									COSM3411401	13-Mar	.		ENST00000306151	Transcript				extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	ENSG00000169876	g.chr7:100683180G>A	16800			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=MUC17_HUMAN&rb=61&re=3889&var=G2828D	NA	getma.org/?cm=var&var=hg19,7,100683180,G,A&fts=all	G2828D	--	--	1																																		MUC17_uc010lho.1_RNA	1	1		unknown(0)	p.G2828D	NM_001040105	NP_001035194			1	MUC17_HUMAN	MUC17	HGNC	Q685J3	MUC17_HUMAN			A1A4F7_HUMAN		3	8536	+	Lung NSC(181;0.136)|all_lung(186;0.182)		UPI0000D5BB56	2828			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|45.		SNV	MUC17,missense_variant,p.Gly2828Asp,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Gly2828Asp,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,;	uc003uxp.1	c.8483G>A	8547/14241	1	1			c.8483G>A						7	SNP	c.(8482-8484)GGC>GAC	49	49			ovary(14)|skin(8)|breast(3)|lung(2)	27	Broad	mucin 17 precursor			100683180		0.498	ENSG00000169876	9792	g.chr7:100683180G>A		extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity							-170.382062	KEEP	6	3	-1	381	436	6	3	-1	10.092458	381	436	0.013473	1	0	0	0	0	1	0	0	0	--	--		0	A			MUC17_uc010lho.1_RNA	201	GBM-27-2523-TP	p.G2828D	G	TCTGAGGCTGGCACCCTTTCA	NM_001040105	NP_001035194	100683180	Q685J3	MUC17_HUMAN	0			3	8536	+	A	A	Lung NSC(181;0.136)|all_lung(186;0.182)		Missense_Mutation	2828			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|45.			
MUC17	0	broad.mit.edu	GRCh37	7	100696360	100696360	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-2502-01	TCGA-28-2502-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306151.4:c.13197C>T	p.Val4399=	p.V4399=	ENST00000306151	NM_001040105.1	4399	gtC/gtT	0			1			T	V	uc003uxp.1	protein_coding	YES	CCDS34711.1			13197/13482									ovary(14)|skin(8)|breast(3)|lung(2)	27	c.(13195-13197)GTC>GTT			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	mucin 17 precursor				ENSP00000302716		13-Oct	5.77E-05			0.000462	0.000152	1.50E-05		6.07E-05	rs762504748,COSM3411407	13-Oct	common_variant		ENST00000306151	Transcript				extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	ENSG00000169876	g.chr7:100696360C>T	16800			LOW								--	--	1																																		MUC17_uc010lho.1_RNA	0,1	1			p.V4399V	NM_001040105	NP_001035194			0,1	MUC17_HUMAN	MUC17	HGNC	Q685J3	MUC17_HUMAN			A1A4F7_HUMAN		10	13250	+	Lung NSC(181;0.136)|all_lung(186;0.182)		UPI0000D5BB56	4399			Helical; (Potential).		SNV	MUC17,synonymous_variant,p.=,ENST00000306151,NM_001040105.1;MUC17,3_prime_UTR_variant,,ENST00000379439,;MUC17,non_coding_transcript_exon_variant,,ENST00000497859,;MUC17,downstream_gene_variant,,ENST00000470303,;	uc003uxp.1	c.13197C>T	13261/14241	2	2			c.13197C>T						7	SNP	c.(13195-13197)GTC>GTT	48	48			ovary(14)|skin(8)|breast(3)|lung(2)	27	Broad	mucin 17 precursor			100696360		0.587	ENSG00000169876	9792	g.chr7:100696360C>T		extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity							68.374778	KEEP	21	12	-1	51	66	21	12	-1	79.517975	51	66	0.20979	1	0	0	0	0	0	0	1	0	--	--		0	T			MUC17_uc010lho.1_RNA	210	GBM-28-2502-TP	p.V4399V	C	GGGCAGGGGTCGTGCTGATGC	NM_001040105	NP_001035194	100696360	Q685J3	MUC17_HUMAN	0			10	13250	+	T	T	Lung NSC(181;0.136)|all_lung(186;0.182)		Silent	4399			Helical; (Potential).			
MUC17	0	broad.mit.edu	GRCh37	7	100701312	100701312	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01	TCGA-28-5216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306151.4:c.13469C>T	p.Thr4490Met	p.T4490M	ENST00000306151	NM_001040105.1	4490	aCg/aTg	0		T:0	1	T:0		T	T/M	uc003uxp.1	protein_coding	YES	CCDS34711.1			13469/13482									ovary(14)|skin(8)|breast(3)|lung(2)	27	c.(13468-13470)ACG>ATG				mucin 17 precursor		T:0		ENSP00000302716	T:0	13/13	2.47E-05					3.00E-05		6.06E-05	rs534194993,COSM3411408	13/13	.		ENST00000306151	Transcript		T:0.0002		extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	ENSG00000169876	g.chr7:100701312C>T	16800			MODERATE		-1.255	neutral	getma.org/?cm=msa&ty=f&p=MUC17_HUMAN&rb=4458&re=4493&var=T4490M	NA	getma.org/?cm=var&var=hg19,7,100701312,C,T&fts=all	T4490M	--	--	1																																		MUC17_uc010lho.1_RNA	0,1	1		unknown(0)	p.T4490M	NM_001040105	NP_001035194	T:0.001		0,1	MUC17_HUMAN	MUC17	HGNC	Q685J3	MUC17_HUMAN			A1A4F7_HUMAN		13	13522	+	Lung NSC(181;0.136)|all_lung(186;0.182)		UPI0000D5BB56	4490			Cytoplasmic (Potential).		SNV	MUC17,missense_variant,p.Thr4490Met,ENST00000306151,NM_001040105.1;RN7SKP54,upstream_gene_variant,,ENST00000410704,;MUC17,3_prime_UTR_variant,,ENST00000379439,;MUC17,downstream_gene_variant,,ENST00000497859,;	uc003uxp.1	c.13469C>T	13533/14241	2	2			c.13469C>T						7	SNP	c.(13468-13470)ACG>ATG	24	24			ovary(14)|skin(8)|breast(3)|lung(2)	27	Broad	mucin 17 precursor			100701312		0.493	ENSG00000169876	9792	g.chr7:100701312C>T		extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity							131.12099	KEEP	28	29	-1	64	52	28	29	-1	134.739787	64	52	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	T			MUC17_uc010lho.1_RNA	223	GBM-28-5216-TP	p.T4490M	C	CAGGTAATGACGACATCATTT	NM_001040105	NP_001035194	100701312	Q685J3	MUC17_HUMAN	0			13	13522	+	T	T	Lung NSC(181;0.136)|all_lung(186;0.182)		Missense_Mutation	4490			Cytoplasmic (Potential).			
MUC17	0	broad.mit.edu	GRCh37	7	100677921	100677921	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5218-01	TCGA-28-5218-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306151.4:c.3224C>T	p.Thr1075Ile	p.T1075I	ENST00000306151	NM_001040105.1	1075	aCt/aTt	0			1			T	T/I	uc003uxp.1	protein_coding	YES	CCDS34711.1			3224/13482									ovary(14)|skin(8)|breast(3)|lung(2)	27	c.(3223-3225)ACT>ATT			Low_complexity_(Seg):seg	mucin 17 precursor				ENSP00000302716		13-Mar									COSM3748349	13-Mar	.		ENST00000306151	Transcript				extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	ENSG00000169876	g.chr7:100677921C>T	16800			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=MUC17_HUMAN&rb=61&re=3889&var=T1075I	NA	getma.org/?cm=var&var=hg19,7,100677921,C,T&fts=all	T1075I	--	--	1																																		MUC17_uc010lho.1_RNA	1	1		benign(0)	p.T1075I	NM_001040105	NP_001035194			1	MUC17_HUMAN	MUC17	HGNC	Q685J3	MUC17_HUMAN			A1A4F7_HUMAN		3	3277	+	Lung NSC(181;0.136)|all_lung(186;0.182)		UPI0000D5BB56	1075			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|16.		SNV	MUC17,missense_variant,p.Thr1075Ile,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Thr1075Ile,ENST00000379439,;	uc003uxp.1	c.3224C>T	3288/14241	2	2			c.3224C>T						7	SNP	c.(3223-3225)ACT>ATT	26	26			ovary(14)|skin(8)|breast(3)|lung(2)	27	Broad	mucin 17 precursor			100677921		0.488	ENSG00000169876	9792	g.chr7:100677921C>T		extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity							78.847048	KEEP	54	69	-1	458	419	54	69	-1	208.037357	458	419	0.108235	1	0	0	0	0	1	0	0	0	--	--		0	T			MUC17_uc010lho.1_RNA	224	GBM-28-5218-TP	p.T1075I	C	CCTGTGACCACTTATTCTCAA	NM_001040105	NP_001035194	100677921	Q685J3	MUC17_HUMAN	0			3	3277	+	T	T	Lung NSC(181;0.136)|all_lung(186;0.182)		Missense_Mutation	1075			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|16.			
MUC17	0	broad.mit.edu	GRCh37	7	100675953	100675953	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-2491-01	TCGA-32-2491-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306151.4:c.1256A>G	p.Asp419Gly	p.D419G	ENST00000306151	NM_001040105.1	419	gAc/gGc	0			1			G	D/G	uc003uxp.1	protein_coding	YES	CCDS34711.1			1256/13482									ovary(14)|skin(8)|breast(3)|lung(2)	27	c.(1255-1257)GAC>GGC				mucin 17 precursor				ENSP00000302716		13-Mar									COSM3411395	13-Mar	.		ENST00000306151	Transcript				extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	ENSG00000169876	g.chr7:100675953A>G	16800			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=MUC17_HUMAN&rb=61&re=3889&var=D419G	NA	getma.org/?cm=var&var=hg19,7,100675953,A,G&fts=all	D419G	--	--	1																																		MUC17_uc010lho.1_RNA	1	1		possibly_damaging(0.673)	p.D419G	NM_001040105	NP_001035194			1	MUC17_HUMAN	MUC17	HGNC	Q685J3	MUC17_HUMAN			A1A4F7_HUMAN		3	1309	+	Lung NSC(181;0.136)|all_lung(186;0.182)		UPI0000D5BB56	419			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.		SNV	MUC17,missense_variant,p.Asp419Gly,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Asp419Gly,ENST00000379439,;	uc003uxp.1	c.1256A>G	1320/14241	3	3			c.1256A>G						7	SNP	c.(1255-1257)GAC>GGC	11	11			ovary(14)|skin(8)|breast(3)|lung(2)	27	Broad	mucin 17 precursor			100675953		0.463	ENSG00000169876	9792	g.chr7:100675953A>G		extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity							183.996113	KEEP	26	54	-1	145	162	26	54	-1	213.321705	145	162	0.203343	1	0	0	0	0	1	0	0	0	--	--		0	G			MUC17_uc010lho.1_RNA	235	GBM-32-2491-TP	p.D419G	A	ATTCCTGTTGACTCCAAAACT	NM_001040105	NP_001035194	100675953	Q685J3	MUC17_HUMAN	0			3	1309	+	G	G	Lung NSC(181;0.136)|all_lung(186;0.182)		Missense_Mutation	419			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.			
MUC17	0	broad.mit.edu	GRCh37	7	100684511	100684511	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01	TCGA-32-4213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306151.4:c.9814C>T	p.Pro3272Ser	p.P3272S	ENST00000306151	NM_001040105.1	3272	Cca/Tca	0			1			T	P/S	uc003uxp.1	protein_coding	YES	CCDS34711.1			9814/13482									ovary(14)|skin(8)|breast(3)|lung(2)	27	c.(9814-9816)CCA>TCA				mucin 17 precursor				ENSP00000302716		13-Mar									COSM1547573	13-Mar	.		ENST00000306151	Transcript				extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	ENSG00000169876	g.chr7:100684511C>T	16800			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=MUC17_HUMAN&rb=61&re=3889&var=P3272S	NA	getma.org/?cm=var&var=hg19,7,100684511,C,T&fts=all	P3272S	--	--	1																																		MUC17_uc010lho.1_RNA	1	1		possibly_damaging(0.902)	p.P3272S	NM_001040105	NP_001035194			1	MUC17_HUMAN	MUC17	HGNC	Q685J3	MUC17_HUMAN			A1A4F7_HUMAN		3	9867	+	Lung NSC(181;0.136)|all_lung(186;0.182)		UPI0000D5BB56	3272			Extracellular (Potential).|Ser-rich.|53.|59 X approximate tandem repeats.		SNV	MUC17,missense_variant,p.Pro3272Ser,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Pro3272Ser,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,;	uc003uxp.1	c.9814C>T	9878/14241	1	1			c.9814C>T						7	SNP	c.(9814-9816)CCA>TCA	4	4			ovary(14)|skin(8)|breast(3)|lung(2)	27	Broad	mucin 17 precursor			100684511		0.502	ENSG00000169876	9792	g.chr7:100684511C>T		extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity							-147.574194	KEEP	3	5	-1	306	374	3	5	-1	8.814921	306	374	0.012195	1	0	0	0	0	1	0	0	0	--	--		0	T			MUC17_uc010lho.1_RNA	247	GBM-32-4213-TP	p.P3272S	C	TACCAGCATGCCAACCTCAAC	NM_001040105	NP_001035194	100684511	Q685J3	MUC17_HUMAN	0			3	9867	+	T	T	Lung NSC(181;0.136)|all_lung(186;0.182)		Missense_Mutation	3272			Extracellular (Potential).|Ser-rich.|53.|59 X approximate tandem repeats.			
MUC17	140453		GRCh37	7	100692247	100692247	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000306151.4:c.12657G>A	p.Thr4219=	p.T4219=	ENST00000306151	NM_001040105.1	4219	acG/acA	0																																																																																																																																																																																																																																												
MUC17	140453		GRCh37	7	100677675	100677675	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000306151.4:c.2978C>T	p.Thr993Met	p.T993M	ENST00000306151	NM_001040105.1	993	aCg/aTg	0																																																																																																																																																																																																																																												
MUC17	140453		GRCh37	7	100684314	100684314	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000306151.4:c.9617C>G	p.Thr3206Ser	p.T3206S	ENST00000306151	NM_001040105.1	3206	aCt/aGt	0																																																																																																																																																																																																																																												
MUC17	140453		GRCh37	7	100683326	100683326	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000306151.4:c.8629A>G	p.Ser2877Gly	p.S2877G	ENST00000306151	NM_001040105.1	2877	Agc/Ggc	0																																																																																																																																																																																																																																												
MUC2	4583	broad.mit.edu	GRCh37	11	1080301	1080301	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01	TCGA-02-2485-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000441003.2:c.1021G>A	p.Gly341Arg	p.G341R	ENST00000441003	NM_002457.2	341	Ggg/Agg	0	A:0.0023	A:0.0008	1	A:0		A	G/R	uc001lsx.1	protein_coding	YES				1021/8454									lung(1)|breast(1)	2	c.(1021-1023)GGG>AGG			hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF261,Pfam_domain:PF01826,Gene3D:2.10.25.10,Superfamily_domains:SSF57567	mucin 2 precursor	Pranlukast(DB01411)	A:0	A:0	ENSP00000415183	A:0	Aug-49	0.000241	0.00335				6.12E-05		8.06E-05	rs200412947,COSM3397388,COSM3397387	Aug-49	common_variant		ENST00000441003	Transcript		A:0.0002		inner mucus layer|outer mucus layer	protein binding	ENSG00000198788	g.chr11:1080301G>A	7512			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=MUC2_HUMAN&rb=295&re=351&var=G341R	NA	getma.org/?cm=var&var=hg19,11,1080301,G,A&fts=all	G341R	--	--	1																																			0,1,1	1		possibly_damaging(0.642)	p.G341R	NM_002457	NP_002448	A:0		0,1,1		MUC2	HGNC	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Q9UMI9_HUMAN,Q9HBC6_HUMAN,H0Y2U6_HUMAN,E7EUV1_HUMAN		8	1048	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	UPI00006C10F2	341			TIL.		SNV	MUC2,missense_variant,p.Gly341Arg,ENST00000441003,NM_002457.2;MUC2,missense_variant,p.Gly341Arg,ENST00000359061,;	uc001lsx.1	c.1021G>A	1048/8637	1	1			c.1021G>A						11	SNP	c.(1021-1023)GGG>AGG	59	59			lung(1)|breast(1)	2	Broad	mucin 2 precursor		Pranlukast(DB01411)	1080301		0.642	ENSG00000198788	9793	g.chr11:1080301G>A		inner mucus layer|outer mucus layer	protein binding							12.697555	KEEP	2	4	-1	9	7	2	4	-1	12.877301	9	7	0.363636	1	0	0	0	0	1	0	0	0	--	--		0	A				7	GBM-02-2485-TP	p.G341R	G	TGACGACATCGGGGACAGTGG	NM_002457	NP_002448	1080301	Q02817	MUC2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	8	1048	+	A	A		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	Missense_Mutation	341			TIL.			
MUC2	4583	broad.mit.edu	GRCh37	11	1096432	1096432	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0650-01	TCGA-06-0650-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000441003.2:c.6457G>A	p.Val2153Met	p.V2153M	ENST00000441003	NM_002457.2	2153	Gtg/Atg	0			1			A	V/M	uc001lsx.1	protein_coding	YES				6457/8454									lung(1)|breast(1)	2	c.(13543-13545)GTG>ATG			PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF261,Pfam_domain:PF00094,SMART_domains:SM00216	mucin 2 precursor	Pranlukast(DB01411)			ENSP00000415183		34/49	3.30E-05		8.66E-05	0.000349					rs781049326,COSM2111251	34/49	.		ENST00000441003	Transcript				inner mucus layer|outer mucus layer	protein binding	ENSG00000198788	g.chr11:1096432G>A	7512			MODERATE		1.645	low	getma.org/?cm=msa&ty=f&p=MUC2_HUMAN&rb=4481&re=4639&var=V4515M	NA	getma.org/?cm=var&var=hg19,11,1096432,G,A&fts=all	V4515M	--	--	1																																			0,1	1		unknown(0)	p.V4515M	NM_002457	NP_002448			0,1		MUC2	HGNC	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Q9UMI9_HUMAN,Q9HBC6_HUMAN,H0Y2U6_HUMAN,E7EUV1_HUMAN		37	13570	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	UPI00006C10F2	4515			VWFD 4.		SNV	MUC2,missense_variant,p.Val2153Met,ENST00000441003,NM_002457.2;MUC2,missense_variant,p.Val291Met,ENST00000361558,;MUC2,downstream_gene_variant,,ENST00000359061,;MUC2,downstream_gene_variant,,ENST00000333592,;	uc001lsx.1	c.13543G>A	6484/8637	2	2			c.13543G>A						11	SNP	c.(13543-13545)GTG>ATG	47	47			lung(1)|breast(1)	2	Broad	mucin 2 precursor		Pranlukast(DB01411)	1096432		0.607	ENSG00000198788	9793	g.chr11:1096432G>A		inner mucus layer|outer mucus layer	protein binding							12.084434	KEEP	4	11	-1	50	75	4	11	-1	29.998167	50	75	0.109244	1	0	0	0	0	1	0	0	0	--	--		0	A				63	GBM-06-0650-TP	p.V4515M	G	CAGCCCCTCCGTGGACAACTT	NM_002457	NP_002448	1096432	Q02817	MUC2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	37	13570	+	A	A		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	Missense_Mutation	4515			VWFD 4.			
MUC2	0	broad.mit.edu	GRCh37	11	1084747	1084747	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01	TCGA-26-5132-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000441003.2:c.2542C>T	p.Arg848Cys	p.R848C	ENST00000441003	NM_002457.2	848	Cgc/Tgc	0			1			T	R/C	uc001lsx.1	protein_coding	YES				2542/8454									lung(1)|breast(1)	2	c.(2542-2544)CGC>TGC			hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF261,SMART_domains:SM00214,SMART_domains:SM00215,Superfamily_domains:SSF57603	mucin 2 precursor	Pranlukast(DB01411)			ENSP00000415183		20/49									COSM3397402,COSM3397401	20/49	.		ENST00000441003	Transcript				inner mucus layer|outer mucus layer	protein binding	ENSG00000198788	g.chr11:1084747C>T	7512			MODERATE		2.395	medium	getma.org/?cm=msa&ty=f&p=MUC2_HUMAN&rb=656&re=855&var=R848C	NA	getma.org/?cm=var&var=hg19,11,1084747,C,T&fts=all	R848C	--	--	1																																			1,1	1		probably_damaging(0.927)	p.R848C	NM_002457	NP_002448			1,1		MUC2	HGNC	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Q9UMI9_HUMAN,Q9HBC6_HUMAN,H0Y2U6_HUMAN,E7EUV1_HUMAN		20	2569	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	UPI00006C10F2	848					SNV	MUC2,missense_variant,p.Arg848Cys,ENST00000441003,NM_002457.2;MUC2,missense_variant,p.Arg848Cys,ENST00000359061,;	uc001lsx.1	c.2542C>T	2569/8637	2	2			c.2542C>T						11	SNP	c.(2542-2544)CGC>TGC	41	41			lung(1)|breast(1)	2	Broad	mucin 2 precursor		Pranlukast(DB01411)	1084747		0.602	ENSG00000198788	9793	g.chr11:1084747C>T		inner mucus layer|outer mucus layer	protein binding							10.697092	KEEP	3	2	-1	2	4	3	2	-1	10.784789	2	4	0.4	1	0	0	0	0	1	0	0	0	--	--		0	T				181	GBM-26-5132-TP	p.R848C	C	CAAGAGAGGACGCTGGGTGTG	NM_002457	NP_002448	1084747	Q02817	MUC2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	20	2569	+	T	T		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	Missense_Mutation	848						
MUC2	0	broad.mit.edu	GRCh37	11	1093681	1093681	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000441003.2:c.5500G>C	p.Gly1834Arg	p.G1834R	ENST00000441003	NM_002457.2	1834	Ggg/Cgg	0			1			C	G/R	uc001lsx.1	protein_coding	YES				5500/8454									lung(1)|breast(1)	2	c.(12574-12576)GGC>CGC			Low_complexity_(Seg):seg,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF261	mucin 2 precursor	Pranlukast(DB01411)			ENSP00000415183		30/49									COSM3397404	30/49	.		ENST00000441003	Transcript				inner mucus layer|outer mucus layer	protein binding	ENSG00000198788	g.chr11:1093681G>C	7512			MODERATE								--	--	1																																			1	1		unknown(0)	p.G4192R	NM_002457	NP_002448			1		MUC2	HGNC	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Q9UMI9_HUMAN,Q9HBC6_HUMAN,H0Y2U6_HUMAN,E7EUV1_HUMAN		32	12601	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	UPI00006C10F2	4192	GTQ -> TGS (in Ref. 4).				SNV	MUC2,missense_variant,p.Gly1834Arg,ENST00000441003,NM_002457.2;MUC2,missense_variant,p.Gly122Arg,ENST00000333592,;MUC2,intron_variant,,ENST00000361558,;MUC2,downstream_gene_variant,,ENST00000359061,;	uc001lsx.1	c.12574G>C	5527/8637	4	4			c.12574G>C						11	SNP	c.(12574-12576)GGC>CGC	47	47			lung(1)|breast(1)	2	Broad	mucin 2 precursor		Pranlukast(DB01411)	1093681		0.617	ENSG00000198788	9793	g.chr11:1093681G>C		inner mucus layer|outer mucus layer	protein binding							-18.201182	KEEP	1	2	-1	44	60	1	2	-1	6.84519	44	60	0.029126	1	0	0	0	0	1	0	0	0	--	--		0	C				235	GBM-32-2491-TP	p.G4192R	G	TGGAAGCACGGGGCCCCCCAC	NM_002457	NP_002448	1093681	Q02817	MUC2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	32	12601	+	C	C		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	Missense_Mutation	4192	GTQ -> TGS (in Ref. 4).					
MUC20	200958	broad.mit.edu	GRCh37	3	195456549	195456549	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-2569-01	TCGA-06-2569-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000447234.2:c.2000T>C	p.Leu667Pro	p.L667P	ENST00000447234	NM_001282506.1	667	cTg/cCg	0	C:0.0055	C:0.0136	1	C:0		C	L/P	uc010hzo.2	protein_coding	YES	CCDS63877.1			2000/2130										0	c.(1486-1488)CTG>CCG				mucin 20 isoform L		C:0	C:0	ENSP00000414350	C:0	4-Mar	0.000605	0.0135							rs201857816,COSM3408531,COSM3408532	4-Mar	common_variant		ENST00000447234	Transcript		C:0.0036	protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane		ENSG00000176945	g.chr3:195456549T>C	23282			MODERATE		1.2	low	getma.org/?cm=msa&ty=f&p=MUC20_HUMAN&rb=1&re=707&var=L667P	NA	getma.org/?cm=var&var=hg19,3,195456549,T,C&fts=all	L667P	--	--	1																																		MUC20_uc010hzp.2_Missense_Mutation_p.L461P	0,1,1	1		unknown(0)	p.L496P	NM_152673	NP_689886	C:0	deleterious(0)	0,1,1	MUC20_HUMAN	MUC20	HGNC	Q8N307	MUC20_HUMAN	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	I0EZ60_HUMAN,I0EZ59_HUMAN,I0CMK3_HUMAN,I0CMJ9_HUMAN		4	1613	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	UPI000198CC5A	667			Interaction with MET.		SNV	MUC20,missense_variant,p.Leu496Pro,ENST00000320736,NM_152673.2;MUC20,missense_variant,p.Leu632Pro,ENST00000445522,;MUC20,missense_variant,p.Leu667Pro,ENST00000447234,NM_001282506.1;MUC20,missense_variant,p.Leu667Pro,ENST00000436408,;MUC20,missense_variant,p.Leu79Pro,ENST00000423938,;LINC00969,non_coding_transcript_exon_variant,,ENST00000594446,;LINC00969,non_coding_transcript_exon_variant,,ENST00000595086,;LINC00969,intron_variant,,ENST00000600197,;LINC00969,downstream_gene_variant,,ENST00000455807,;LINC00969,downstream_gene_variant,,ENST00000600288,;LINC00969,downstream_gene_variant,,ENST00000599566,;LINC00969,downstream_gene_variant,,ENST00000597662,;MUC20,downstream_gene_variant,,ENST00000485430,;MUC20,downstream_gene_variant,,ENST00000480350,;MUC20,non_coding_transcript_exon_variant,,ENST00000498018,;	uc010hzo.2	c.1487T>C	2126/2589	3	3			c.1487T>C						3	SNP	c.(1486-1488)CTG>CCG	11	11				0	Broad	mucin 20 isoform L			195456549		0.453	ENSG00000176945	9794	g.chr3:195456549T>C	protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane								24.626391	KEEP	4	5	-1	6	5	4	5	-1	24.643162	6	5	0.538462	1	0	0	0	0	1	0	0	0	--	--		0	C			MUC20_uc010hzp.2_Missense_Mutation_p.L461P	90	GBM-06-2569-TP	p.L496P	T	CTCCTGCGGCTGAGTGTGGCT	NM_152673	NP_689886	195456549	Q8N307	MUC20_HUMAN	0	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	4	1613	+	C	C	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Missense_Mutation	667			Interaction with MET.			
MUC21	0	broad.mit.edu	GRCh37	6	30954349	30954349	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-12-3650-01	TCGA-12-3650-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376296.3:c.397A>G	p.Ser133Gly	p.S133G	ENST00000376296	NM_001010909.2	133	Agc/Ggc	0			1			G	S/G	uc003nsh.2	protein_coding	YES	CCDS34388.1			397/1701									ovary(1)|skin(1)	2	c.(397-399)AGC>GGC			Low_complexity_(Seg):seg,Pfam_domain:PF05647,Pfam_domain:PF05647	mucin 21 precursor				ENSP00000365473		3-Feb	8.25E-06		8.74E-05						rs755954245,COSM3748325	3-Feb	.		ENST00000376296	Transcript				integral to membrane|plasma membrane		ENSG00000204544	g.chr6:30954349A>G	21661			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=MUC21_HUMAN&rb=1&re=449&var=S133G	NA	getma.org/?cm=var&var=hg19,6,30954349,A,G&fts=all	S133G	--	--	1																																		MUC21_uc003nsi.1_RNA	0,1	1		unknown(0)	p.S133G	NM_001010909	NP_001010909		deleterious(0)	0,1	MUC21_HUMAN	MUC21	HGNC	Q5SSG8	MUC21_HUMAN					2	648	+			UPI000047030C	133			Ser-rich.|7.|28 X 15 AA approximate tandem repeats.|Extracellular (Potential).		SNV	MUC21,missense_variant,p.Ser133Gly,ENST00000376296,NM_001010909.2;MUC21,5_prime_UTR_variant,,ENST00000486149,;	uc003nsh.2	c.397A>G	638/3651	4	4			c.397A>G						6	SNP	c.(397-399)AGC>GGC	30	30			ovary(1)|skin(1)	2	Broad	mucin 21 precursor			30954349		0.612	ENSG00000204544	9795	g.chr6:30954349A>G		integral to membrane|plasma membrane								-21.271828	KEEP	1	2	-1	90	119	1	2	-1	6.433323	90	119	0.026786	1	0	0	0	0	1	0	0	0	--	--		0	G			MUC21_uc003nsi.1_RNA	126	GBM-12-3650-TP	p.S133G	A	CAGTGGGGCCAGCACAGCCAC	NM_001010909	NP_001010909	30954349	Q5SSG8	MUC21_HUMAN	0			2	648	+	G	G			Missense_Mutation	133			Ser-rich.|7.|28 X 15 AA approximate tandem repeats.|Extracellular (Potential).			
MUC4	0	broad.mit.edu	GRCh37	3	195515160	195515160	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-12-3652-01	TCGA-12-3652-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000463781.3:c.3291A>G	p.Ala1097=	p.A1097=	ENST00000463781	NM_018406.6	1097	gcA/gcG	0			1			C	A	uc011bto.1	protein_coding	YES	CCDS54700.1			3291/16239										0	c.(3289-3291)GCA>GCG			hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41	mucin 4 isoform a				ENSP00000417498		25-Feb	0.0025	0.00803	0.00664	0.00308	0.00173	0.00769		0.00953	rs200424131,COSM3748228,COSM3748227	25-Feb	common_variant		ENST00000463781	Transcript			cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	ENSG00000145113	g.chr3:195515160T>C	7514			LOW								--	--	1																																		MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	0,1,1	1			p.A1097A	NM_018406	NP_060876			0,1,1		MUC4	HGNC	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	O75456_HUMAN,E9PDY6_HUMAN		2	3751	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	UPI0001B3CB30	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					SNV	MUC4,synonymous_variant,p.=,ENST00000463781,NM_018406.6;MUC4,synonymous_variant,p.=,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,synonymous_variant,p.=,ENST00000478156,;MUC4,synonymous_variant,p.=,ENST00000466475,;MUC4,synonymous_variant,p.=,ENST00000477756,;MUC4,synonymous_variant,p.=,ENST00000477086,;MUC4,synonymous_variant,p.=,ENST00000480843,;MUC4,synonymous_variant,p.=,ENST00000462323,;MUC4,synonymous_variant,p.=,ENST00000470451,;MUC4,synonymous_variant,p.=,ENST00000479406,;	uc011bto.1	c.3291A>G	3751/17110	4	4			c.3291A>G						3	SNP	c.(3289-3291)GCA>GCG	41	41				0	Broad	mucin 4 isoform a			195515160		0.572	ENSG00000145113	9796	g.chr3:195515160T>C	cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity							6.850062	KEEP	2	0	-1	3	1	2	0	-1	6.850062	3	1	0.5	1	0	0	0	0	0	0	1	0	--	--		0	C			MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	127	GBM-12-3652-TP	p.A1097A	T	GACCTGTGGATGCTGAGGAAG	NM_018406	NP_060876	195515160	Q99102	MUC4_HUMAN	0	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	3751	-	C	C	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Silent	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						
MUC4	0	broad.mit.edu	GRCh37	3	195498599	195498599	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs145772547		TCGA-16-1045-01	TCGA-16-1045-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000463781.3:c.13166G>A	p.Arg4389Gln	p.R4389Q	ENST00000463781	NM_018406.6	4389	cGg/cAg	0	G:0		1			T	R/Q	uc011bto.1	protein_coding	YES	CCDS54700.1			13166/16239										0	c.(12781-12783)CGG>CAG			hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41	mucin 4 isoform a			G:0.0001	ENSP00000417498		25-May	2.47E-05	9.61E-05				3.00E-05			rs145772547,COSM3408537,COSM3408538,COSM3408536	25-May	.		ENST00000463781	Transcript			cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	ENSG00000145113	g.chr3:195498599C>T	7514			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=MUC4_HUMAN&rb=1113&re=1223&var=R1146Q	NA	getma.org/?cm=var&var=hg19,3,195498599,C,T&fts=all	R1146Q	--	--	1																																		MUC4_uc003fuz.2_Missense_Mutation_p.G69R|MUC4_uc003fva.2_5'UTR|MUC4_uc003fvb.2_5'UTR|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_5'UTR|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_5'UTR|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_5'UTR|MUC4_uc011bti.1_5'UTR|MUC4_uc011btj.1_Missense_Mutation_p.R130Q|MUC4_uc011btk.1_5'UTR|MUC4_uc011btl.1_5'UTR|MUC4_uc011btm.1_Missense_Mutation_p.R130Q|MUC4_uc011btn.1_5'UTR|MUC4_uc003fvo.2_Missense_Mutation_p.R153Q|MUC4_uc003fvp.2_Missense_Mutation_p.R102Q|MUC4_uc010hzu.1_Missense_Mutation_p.R1001Q	0,1,1,1	1		benign(0.042)	p.R4261Q	NM_018406	NP_060876			0,1,1,1		MUC4	HGNC	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	O75456_HUMAN,E9PDY6_HUMAN		6	13242	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	UPI0001B3CB30	1146					SNV	MUC4,missense_variant,p.Arg4389Gln,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Arg4389Gln,ENST00000475231,;MUC4,missense_variant,p.Arg153Gln,ENST00000346145,NM_004532.5;MUC4,missense_variant,p.Arg102Gln,ENST00000349607,NM_138297.4;MUC4,upstream_gene_variant,,ENST00000486425,;MUC4,missense_variant,p.Arg4389Gln,ENST00000478156,;MUC4,missense_variant,p.Gly4394Arg,ENST00000466475,;MUC4,missense_variant,p.Arg4389Gln,ENST00000477756,;MUC4,missense_variant,p.Gly4364Arg,ENST00000477086,;MUC4,missense_variant,p.Arg4389Gln,ENST00000480843,;MUC4,missense_variant,p.Gly4364Arg,ENST00000462323,;MUC4,missense_variant,p.Gly4364Arg,ENST00000470451,;MUC4,missense_variant,p.Gly4394Arg,ENST00000479406,;MUC4,missense_variant,p.Gly138Arg,ENST00000448861,;MUC4,missense_variant,p.Gly138Arg,ENST00000308466,;MUC4,missense_variant,p.Gly108Arg,ENST00000339251,;MUC4,missense_variant,p.Gly108Arg,ENST00000415455,;MUC4,missense_variant,p.Gly108Arg,ENST00000392407,;	uc011bto.1	c.12782G>A	13626/17110	2	2			c.12782G>A						3	SNP	c.(12781-12783)CGG>CAG	20	20				0	Broad	mucin 4 isoform a			195498599		0.562	ENSG00000145113	9796	g.chr3:195498599C>T	cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity							116.889156	KEEP	20	24	-1	46	43	20	24	-1	120.018399	46	43	0.327731	1	0	0	0	0	1	0	0	0	--	--		0	T			MUC4_uc003fuz.2_Missense_Mutation_p.G69R|MUC4_uc003fva.2_5'UTR|MUC4_uc003fvb.2_5'UTR|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_5'UTR|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_5'UTR|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_5'UTR|MUC4_uc011bti.1_5'UTR|MUC4_uc011btj.1_Missense_Mutation_p.R130Q|MUC4_uc011btk.1_5'UTR|MUC4_uc011btl.1_5'UTR|MUC4_uc011btm.1_Missense_Mutation_p.R130Q|MUC4_uc011btn.1_5'UTR|MUC4_uc003fvo.2_Missense_Mutation_p.R153Q|MUC4_uc003fvp.2_Missense_Mutation_p.R102Q|MUC4_uc010hzu.1_Missense_Mutation_p.R1001Q	157	GBM-16-1045-TP	p.R4261Q	C	CACAGGGTCCCGGCCTGTGAA	NM_018406	NP_060876	195498599	Q99102	MUC4_HUMAN	0	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	6	13242	-	T	T	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Missense_Mutation	1146						
MUC4	0	broad.mit.edu	GRCh37	3	195511959	195511959	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-4208-01	TCGA-32-4208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000463781.3:c.6492C>T	p.Thr2164=	p.T2164=	ENST00000463781	NM_018406.6	2164	acC/acT	0			1			A	T	uc011bto.1	protein_coding	YES	CCDS54700.1			6492/16239										0	c.(6490-6492)ACC>ACT			hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41	mucin 4 isoform a				ENSP00000417498		25-Feb	0.0835	0.141	0.194	0.423	0.374	0.264	0.303	0.297	rs369770584,COSM3748226,COSM1485028	25-Feb	common_variant		ENST00000463781	Transcript			cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	ENSG00000145113	g.chr3:195511959G>A	7514			LOW								--	--	1																																		MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	0,1,1	1			p.T2164T	NM_018406	NP_060876			0,1,1		MUC4	HGNC	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	O75456_HUMAN,E9PDY6_HUMAN		2	6952	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	UPI0001B3CB30	45					SNV	MUC4,synonymous_variant,p.=,ENST00000463781,NM_018406.6;MUC4,synonymous_variant,p.=,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,synonymous_variant,p.=,ENST00000478156,;MUC4,synonymous_variant,p.=,ENST00000466475,;MUC4,synonymous_variant,p.=,ENST00000477756,;MUC4,synonymous_variant,p.=,ENST00000477086,;MUC4,synonymous_variant,p.=,ENST00000480843,;MUC4,synonymous_variant,p.=,ENST00000462323,;MUC4,synonymous_variant,p.=,ENST00000470451,;MUC4,synonymous_variant,p.=,ENST00000479406,;	uc011bto.1	c.6492C>T	6952/17110	2	2			c.6492C>T						3	SNP	c.(6490-6492)ACC>ACT	36	36				0	Broad	mucin 4 isoform a			195511959		0.577	ENSG00000145113	9796	g.chr3:195511959G>A	cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity							7.051246	KEEP	0	2	-1	1	2	0	2	-1	7.124733	1	2	0.666667	1	0	0	0	0	0	0	1	0	--	--		0	A			MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	243	GBM-32-4208-TP	p.T2164T	G	AGGAAGTGTCGGTGACAGGAA	NM_018406	NP_060876	195511959	Q99102	MUC4_HUMAN	0	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	6952	-	A	A	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Silent	45						
MUC4	0	broad.mit.edu	GRCh37	3	195516064	195516064	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01	TCGA-41-3392-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000463781.3:c.2387G>A	p.Arg796Gln	p.R796Q	ENST00000463781	NM_018406.6	796	cGa/cAa	0			1			T	R/Q	uc011bto.1	protein_coding	YES	CCDS54700.1			2387/16239										0	c.(2386-2388)CGA>CAA			hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41,Low_complexity_(Seg):seg	mucin 4 isoform a				ENSP00000417498		25-Feb	8.25E-06					1.50E-05			rs755686884,COSM3408541,COSM446250	25-Feb	.		ENST00000463781	Transcript			cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	ENSG00000145113	g.chr3:195516064C>T	7514			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=MUC4_HUMAN&rb=1&re=1061&var=R801Q	NA	getma.org/?cm=var&var=hg19,3,195516064,C,T&fts=all	R801Q	--	--	1																																		MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.R678Q	0,1,1	1		unknown(0)	p.R796Q	NM_018406	NP_060876			0,1,1		MUC4	HGNC	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	O75456_HUMAN,E9PDY6_HUMAN		2	2847	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	UPI0001B3CB30	801			Ser-rich.		SNV	MUC4,missense_variant,p.Arg796Gln,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Arg796Gln,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Arg796Gln,ENST00000478156,;MUC4,missense_variant,p.Arg796Gln,ENST00000466475,;MUC4,missense_variant,p.Arg796Gln,ENST00000477756,;MUC4,missense_variant,p.Arg796Gln,ENST00000477086,;MUC4,missense_variant,p.Arg796Gln,ENST00000480843,;MUC4,missense_variant,p.Arg796Gln,ENST00000462323,;MUC4,missense_variant,p.Arg796Gln,ENST00000470451,;MUC4,missense_variant,p.Arg796Gln,ENST00000479406,;	uc011bto.1	c.2387G>A	2847/17110	2	2			c.2387G>A						3	SNP	c.(2386-2388)CGA>CAA	47	47				0	Broad	mucin 4 isoform a			195516064		0.602	ENSG00000145113	9796	g.chr3:195516064C>T	cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity							164.042958	KEEP	42	21	-1	45	48	42	21	-1	164.872158	45	48	0.41844	1	0	0	0	0	1	0	0	0	--	--		0	T			MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.R678Q	254	GBM-41-3392-TP	p.R796Q	C	TGAGGTGGTTCGTGACCCTGA	NM_018406	NP_060876	195516064	Q99102	MUC4_HUMAN	0	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	2847	-	T	T	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Missense_Mutation	801			Ser-rich.			
MUC4	4585		GRCh37	3	195516052	195516052	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2510-01	TCGA-28-2510-01																				ENST00000463781.3:c.2399C>T	p.Ala800Val	p.A800V	ENST00000463781	NM_018406.6	800	gCg/gTg	0																																																																																																																																																																																																																																												
MUC4	4585		GRCh37	3	195505782	195505782	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000463781.3:c.12669C>T	p.Thr4223=	p.T4223=	ENST00000463781	NM_018406.6	4223	acC/acT	0																																																																																																																																																																																																																																												
MUC5AC	4586		GRCh37	11	1156628	1156628	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000534821.1:c.645C>T	p.Asn215=	p.N215=	ENST00000534821		215	aaC/aaT	0																																																																																																																																																																																																																																												
MUC5B	727897	broad.mit.edu	GRCh37	11	1267649	1267649	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01	TCGA-06-0185-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000529681.1:c.9539C>T	p.Thr3180Met	p.T3180M	ENST00000529681	NM_002458.2	3180	aCg/aTg	0	A:0	T:0	1	T:0		T	T/M	uc009ycr.1	protein_coding	YES	CCDS44515.2			9539/17289										0	c.(11287-11289)ACG>ATG			Low_complexity_(Seg):seg,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;		T:0	A:0.0002	ENSP00000436812	T:0.001	31/49	0.000248				0.00167	0.000226		0.000182	rs369158178,COSM3397540,COSM3397539	31/49	common_variant		ENST00000529681	Transcript	1	T:0.0002	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	ENSG00000117983	g.chr11:1267649C>T	7516			MODERATE		1.75	low	getma.org/?cm=msa&ty=f&p=MUC5B_HUMAN&rb=2967&re=3569&var=T3180M	NA	getma.org/?cm=var&var=hg19,11,1267649,C,T&fts=all	T3180M	--	--	1																																		MUC5B_uc001ltb.2_Missense_Mutation_p.T3183M	0,1,1	1		unknown(0)	p.T3763M	NM_017511	NP_059981	T:0		0,1,1	MUC5B_HUMAN	MUC5B	HGNC	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	Q93043_HUMAN		49	11414	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	UPI0001DD21C7	3180	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich.		SNV	MUC5B,missense_variant,p.Thr3183Met,ENST00000447027,;MUC5B,missense_variant,p.Thr3180Met,ENST00000529681,NM_002458.2;RP11-532E4.2,intron_variant,,ENST00000532061,;	uc009ycr.1	c.11288C>T	9597/17911	2	2			c.11288C>T						11	SNP	c.(11287-11289)ACG>ATG	30	30				0	Broad	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;			1267649		0.687	ENSG00000117983	9797	g.chr11:1267649C>T	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding							8.531629	KEEP	5	7	-1	68	49	5	7	-1	19.887414	68	49	0.115385	1	0	0	0	0	1	0	0	0	--	--		0	T			MUC5B_uc001ltb.2_Missense_Mutation_p.T3183M	40	GBM-06-0185-TP	p.T3763M	C	ACCGGATCCACGGCCACCGCC	NM_017511	NP_059981	1267649	Q9HC84	MUC5B_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	49	11414	+	T	T		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	Missense_Mutation	3180	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich.			
MUC5B	727897	broad.mit.edu	GRCh37	11	1272821	1272821	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs56353324		TCGA-06-0219-01	TCGA-06-0219-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000529681.1:c.14711G>A	p.Arg4904His	p.R4904H	ENST00000529681	NM_002458.2	4904	cGc/cAc	0	A:0	A:0	1	A:0		A	R/H	uc009ycr.1	protein_coding	YES	CCDS44515.2			14711/17289										0	c.(15676-15678)CGC>CAC			Low_complexity_(Seg):seg,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;		A:0	A:0.0006	ENSP00000436812	A:0.001	31/49	0.000429	0.00021	0.000788	0.000117		0.00043	0.00113	0.000667	rs56353324,COSM2150984,COSM2150983	31/49	common_variant		ENST00000529681	Transcript	1	A:0.0002	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	ENSG00000117983	g.chr11:1272821G>A	7516			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=MUC5B_HUMAN&rb=4838&re=5037&var=R4904H	NA	getma.org/?cm=var&var=hg19,11,1272821,G,A&fts=all	R4904H	--	--	1																																		MUC5B_uc001ltb.2_Missense_Mutation_p.R4907H	0,1,1	1		unknown(0)	p.R5226H	NM_017511	NP_059981	A:0		0,1,1	MUC5B_HUMAN	MUC5B	HGNC	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	Q93043_HUMAN		52	15803	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	UPI0001DD21C7	4904			Thr-rich.		SNV	MUC5B,missense_variant,p.Arg4907His,ENST00000447027,;MUC5B,missense_variant,p.Arg4904His,ENST00000529681,NM_002458.2;RP11-532E4.2,upstream_gene_variant,,ENST00000532061,;	uc009ycr.1	c.15677G>A	14769/17911	1	1			c.15677G>A						11	SNP	c.(15676-15678)CGC>CAC	54	54				0	Broad	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;			1272821		0.652	ENSG00000117983	9797	g.chr11:1272821G>A	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding							35.954686	KEEP	6	11	-1	13	19	6	11	-1	36.2828	13	19	0.393939	1	0	0	0	0	1	0	0	0	--	--		0	A			MUC5B_uc001ltb.2_Missense_Mutation_p.R4907H	52	GBM-06-0219-TP	p.R5226H	G	GGGACCACCCGCACCCCTGCA	NM_017511	NP_059981	1272821	Q9HC84	MUC5B_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	52	15803	+	A	A		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	Missense_Mutation	4904			Thr-rich.			
MUC5B	727897	broad.mit.edu	GRCh37	11	1251288	1251288	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01	TCGA-06-0241-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000529681.1:c.1274G>A	p.Cys425Tyr	p.C425Y	ENST00000529681	NM_002458.2	425	tGc/tAc	0			1			A	C/Y	uc009ycr.1	protein_coding	YES	CCDS44515.2			1274/17289										0	c.(3250-3252)TGC>TAC			PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237,Pfam_domain:PF00094,SMART_domains:SM00215,SMART_domains:SM00214,SMART_domains:SM00216,Superfamily_domains:SSF57603	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;				ENSP00000436812		Nov-49									COSM2151114,COSM2151113	Nov-49	.		ENST00000529681	Transcript	1		cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	ENSG00000117983	g.chr11:1251288G>A	7516			MODERATE		4.305	high	getma.org/?cm=msa&ty=f&p=MUC5B_HUMAN&rb=425&re=579&var=C425Y	NA	getma.org/?cm=var&var=hg19,11,1251288,G,A&fts=all	C425Y	--	--	1																																		MUC5B_uc009yct.1_Missense_Mutation_p.C425Y|MUC5B_uc001ltb.2_Missense_Mutation_p.C428Y|MUC5B_uc001lta.2_Missense_Mutation_p.C93Y	1,1	1		unknown(0)	p.C1084Y	NM_017511	NP_059981			1,1	MUC5B_HUMAN	MUC5B	HGNC	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	Q93043_HUMAN		27	3377	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	UPI0001DD21C7	425			VWFD 2.		SNV	MUC5B,missense_variant,p.Cys428Tyr,ENST00000447027,;MUC5B,missense_variant,p.Cys425Tyr,ENST00000529681,NM_002458.2;MUC5B,downstream_gene_variant,,ENST00000531082,;MUC5B,non_coding_transcript_exon_variant,,ENST00000525715,;	uc009ycr.1	c.3251G>A	1332/17911	1	1			c.3251G>A						11	SNP	c.(3250-3252)TGC>TAC	59	59				0	Broad	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;			1251288		0.652	ENSG00000117983	9797	g.chr11:1251288G>A	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding							170.239886	KEEP	38	32	-1	43	43	38	32	-1	170.678049	43	43	0.441379	1	0	0	0	0	1	0	0	0	--	--		0	A			MUC5B_uc009yct.1_Missense_Mutation_p.C425Y|MUC5B_uc001ltb.2_Missense_Mutation_p.C428Y|MUC5B_uc001lta.2_Missense_Mutation_p.C93Y	57	GBM-06-0241-TP	p.C1084Y	G	CCTGGCACCTGCTCTGTGCAG	NM_017511	NP_059981	1251288	Q9HC84	MUC5B_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	27	3377	+	A	A		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	Missense_Mutation	425			VWFD 2.			
MUC5B	727897	broad.mit.edu	GRCh37	11	1267425	1267425	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000529681.1:c.9315C>T	p.Thr3105=	p.T3105=	ENST00000529681	NM_002458.2	3105	acC/acT	0	T:0		1			T	T	uc009ycr.1	protein_coding	YES	CCDS44515.2			9315/17289										0	c.(11062-11064)ACC>ACT			Low_complexity_(Seg):seg,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;			T:0.0001	ENSP00000436812		31/49									rs375109401,COSM3397538,COSM3397537	31/49	.		ENST00000529681	Transcript	1		cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	ENSG00000117983	g.chr11:1267425C>T	7516			LOW								--	--	1																																		MUC5B_uc001ltb.2_Silent_p.T3108T	0,1,1	1			p.T3688T	NM_017511	NP_059981			0,1,1	MUC5B_HUMAN	MUC5B	HGNC	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	Q93043_HUMAN		49	11190	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	UPI0001DD21C7	3105	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich.		SNV	MUC5B,synonymous_variant,p.=,ENST00000447027,;MUC5B,synonymous_variant,p.=,ENST00000529681,NM_002458.2;RP11-532E4.2,intron_variant,,ENST00000532061,;	uc009ycr.1	c.11064C>T	9373/17911	1	1			c.11064C>T						11	SNP	c.(11062-11064)ACC>ACT	6	6				0	Broad	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;			1267425		0.637	ENSG00000117983	9797	g.chr11:1267425C>T	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding							-0.84724	KEEP	5	12	-1	31	47	5	12	-1	9.485123	31	47	0.072727	1	0	0	0	0	0	0	1	0	--	--		0	T			MUC5B_uc001ltb.2_Silent_p.T3108T	65	GBM-06-0743-TP	p.T3688T	C	CCACCCACACCTCCACAGTGC	NM_017511	NP_059981	1267425	Q9HC84	MUC5B_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	49	11190	+	T	T		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	Silent	3105	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich.			
MUC5B	727897	broad.mit.edu	GRCh37	11	1267929	1267929	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0743-01	TCGA-06-0743-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000529681.1:c.9819T>C	p.Thr3273=	p.T3273=	ENST00000529681	NM_002458.2	3273	acT/acC	0			1			C	T	uc009ycr.1	protein_coding	YES	CCDS44515.2			9819/17289										0	c.(11566-11568)ACT>ACC			Low_complexity_(Seg):seg,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;				ENSP00000436812		31/49	0.00086	0.00113	8.65E-05		0.000762	0.000453	0.00113	0.000242	rs767573845,COSM1976796,COSM1976795	31/49	common_variant		ENST00000529681	Transcript	1		cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	ENSG00000117983	g.chr11:1267929T>C	7516			LOW								--	--	1																																		MUC5B_uc001ltb.2_Silent_p.T3276T	0,1,1	1			p.T3856T	NM_017511	NP_059981			0,1,1	MUC5B_HUMAN	MUC5B	HGNC	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	Q93043_HUMAN		49	11694	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	UPI0001DD21C7	3273	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich.		SNV	MUC5B,synonymous_variant,p.=,ENST00000447027,;MUC5B,synonymous_variant,p.=,ENST00000529681,NM_002458.2;RP11-532E4.2,intron_variant,,ENST00000532061,;	uc009ycr.1	c.11568T>C	9877/17911	4	4			c.11568T>C						11	SNP	c.(11566-11568)ACT>ACC	38	38				0	Broad	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;			1267929		0.642	ENSG00000117983	9797	g.chr11:1267929T>C	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding							4.083837	KEEP	5	8	-1	24	34	5	8	-1	9.210066	24	34	0.114286	1	0	0	0	0	0	0	1	0	--	--		0	C			MUC5B_uc001ltb.2_Silent_p.T3276T	65	GBM-06-0743-TP	p.T3856T	T	CTCCAGAGACTGTCCACACCT	NM_017511	NP_059981	1267929	Q9HC84	MUC5B_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	49	11694	+	C	C		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	Silent	3273	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich.			
MUC5B	727897	broad.mit.edu	GRCh37	11	1271196	1271196	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000529681.1:c.13086C>T	p.Thr4362=	p.T4362=	ENST00000529681	NM_002458.2	4362	acC/acT	0			1			T	T	uc009ycr.1	protein_coding	YES	CCDS44515.2			13086/17289										0	c.(14503-14505)ACC>ACT			Low_complexity_(Seg):seg,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;				ENSP00000436812		31/49	8.25E-06							6.06E-05	rs769035980,COSM3397542,COSM3397541	31/49	.		ENST00000529681	Transcript	1		cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	ENSG00000117983	g.chr11:1271196C>T	7516			LOW								--	--	1																																		MUC5B_uc001ltb.2_Silent_p.T4365T	0,1,1	1			p.T4835T	NM_017511	NP_059981			0,1,1	MUC5B_HUMAN	MUC5B	HGNC	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	Q93043_HUMAN		51	14631	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	UPI0001DD21C7	4362			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		SNV	MUC5B,synonymous_variant,p.=,ENST00000447027,;MUC5B,synonymous_variant,p.=,ENST00000529681,NM_002458.2;RP11-532E4.2,upstream_gene_variant,,ENST00000532061,;	uc009ycr.1	c.14505C>T	13144/17911	2	2			c.14505C>T						11	SNP	c.(14503-14505)ACC>ACT	36	36				0	Broad	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;			1271196		0.652	ENSG00000117983	9797	g.chr11:1271196C>T	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding							52.452142	KEEP	9	18	-1	33	56	9	18	-1	58.460382	33	56	0.227273	1	0	0	0	0	0	0	1	0	--	--		0	T			MUC5B_uc001ltb.2_Silent_p.T4365T	65	GBM-06-0743-TP	p.T4835T	C	CCACCCACACCTCCACAGTGC	NM_017511	NP_059981	1271196	Q9HC84	MUC5B_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	51	14631	+	T	T		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	Silent	4362			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.			
MUC5B	0	broad.mit.edu	GRCh37	11	1266158	1266158	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-12-0619-01	TCGA-12-0619-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000529681.1:c.8048C>G	p.Thr2683Ser	p.T2683S	ENST00000529681	NM_002458.2	2683	aCc/aGc	0			1			G	T/S	uc009ycr.1	protein_coding	YES	CCDS44515.2			8048/17289										0	c.(9961-9963)ACC>AGC			Low_complexity_(Seg):seg,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;				ENSP00000436812		31/49									COSM3397536,COSM3397535	31/49	.		ENST00000529681	Transcript	1		cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	ENSG00000117983	g.chr11:1266158C>G	7516			MODERATE		2.005	medium	getma.org/?cm=msa&ty=f&p=MUC5B_HUMAN&rb=2610&re=2809&var=T2683S	NA	getma.org/?cm=var&var=hg19,11,1266158,C,G&fts=all	T2683S	--	--	1																																		MUC5B_uc001ltb.2_Missense_Mutation_p.T2686S	1,1	1		unknown(0)	p.T3321S	NM_017511	NP_059981			1,1	MUC5B_HUMAN	MUC5B	HGNC	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	Q93043_HUMAN		48	10088	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	UPI0001DD21C7	2734	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		SNV	MUC5B,missense_variant,p.Thr2686Ser,ENST00000447027,;MUC5B,missense_variant,p.Thr2683Ser,ENST00000529681,NM_002458.2;RP11-532E4.2,intron_variant,,ENST00000532061,;	uc009ycr.1	c.9962C>G	8106/17911	4	4			c.9962C>G						11	SNP	c.(9961-9963)ACC>AGC	18	18				0	Broad	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;			1266158		0.333	ENSG00000117983	9797	g.chr11:1266158C>G	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding							6.948181	KEEP	1	2	-1	7	6	1	2	-1	7.095694	7	6	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	G			MUC5B_uc001ltb.2_Missense_Mutation_p.T2686S	120	GBM-12-0619-TP	p.T3321S	C	AGCACACAGACCAGTGGTACT	NM_017511	NP_059981	1266158	Q9HC84	MUC5B_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	48	10088	+	G	G		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	Missense_Mutation	2734	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.			
MUC5B	0	broad.mit.edu	GRCh37	11	1274084	1274084	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01	TCGA-12-3650-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000529681.1:c.15091G>A	p.Val5031Met	p.V5031M	ENST00000529681	NM_002458.2	5031	Gtg/Atg	0	A:0		1			A	V/M	uc009ycr.1	protein_coding	YES	CCDS44515.2			15091/17289										0	c.(16057-16059)GTG>ATG			hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;			A:0.0002	ENSP00000436812		33/49	7.47E-05	0.000125				6.80E-05		0.000278	rs369603904,COSM3397546,COSM3397545	33/49	.		ENST00000529681	Transcript	1		cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	ENSG00000117983	g.chr11:1274084G>A	7516			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=MUC5B_HUMAN&rb=4838&re=5037&var=V5031M	NA	getma.org/?cm=var&var=hg19,11,1274084,G,A&fts=all	V5031M	--	--	1																																		MUC5B_uc001ltb.2_Missense_Mutation_p.V5034M	0,1,1	1		unknown(0)	p.V5353M	NM_017511	NP_059981			0,1,1	MUC5B_HUMAN	MUC5B	HGNC	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	Q93043_HUMAN		54	16183	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	UPI0001DD21C7	5031					SNV	MUC5B,missense_variant,p.Val5034Met,ENST00000447027,;MUC5B,missense_variant,p.Val5031Met,ENST00000529681,NM_002458.2;MUC5B,upstream_gene_variant,,ENST00000526859,;RP11-532E4.2,upstream_gene_variant,,ENST00000532061,;	uc009ycr.1	c.16057G>A	15149/17911	2	2			c.16057G>A						11	SNP	c.(16057-16059)GTG>ATG	45	45				0	Broad	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;			1274084		0.632	ENSG00000117983	9797	g.chr11:1274084G>A	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding							46.62773	KEEP	9	9	-1	8	10	9	9	-1	46.654304	8	10	0.46875	1	0	0	0	0	1	0	0	0	--	--		0	A			MUC5B_uc001ltb.2_Missense_Mutation_p.V5034M	126	GBM-12-3650-TP	p.V5353M	G	GGCCAGGTGCGTGGGTGACAA	NM_017511	NP_059981	1274084	Q9HC84	MUC5B_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	54	16183	+	A	A		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	Missense_Mutation	5031						
MUC5B	0	broad.mit.edu	GRCh37	11	1270908	1270908	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-3476-01	TCGA-14-3476-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000529681.1:c.12798G>A	p.Thr4266=	p.T4266=	ENST00000529681	NM_002458.2	4266	acG/acA	0			1			A	T	uc009ycr.1	protein_coding	YES	CCDS44515.2			12798/17289										0	c.(14215-14217)ACG>ACA			Low_complexity_(Seg):seg,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;				ENSP00000436812		31/49	3.30E-05		8.64E-05			1.51E-05	0.00112	6.06E-05	rs756307198,COSM924774,COSM1585528	31/49	.		ENST00000529681	Transcript	1		cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	ENSG00000117983	g.chr11:1270908G>A	7516			LOW								--	--	1																																		MUC5B_uc001ltb.2_Silent_p.T4269T	0,1,1	1			p.T4739T	NM_017511	NP_059981			0,1,1	MUC5B_HUMAN	MUC5B	HGNC	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	Q93043_HUMAN		51	14343	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	UPI0001DD21C7	4266			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		SNV	MUC5B,synonymous_variant,p.=,ENST00000447027,;MUC5B,synonymous_variant,p.=,ENST00000529681,NM_002458.2;RP11-532E4.2,upstream_gene_variant,,ENST00000532061,;	uc009ycr.1	c.14217G>A	12856/17911	2	2			c.14217G>A						11	SNP	c.(14215-14217)ACG>ACA	45	45				0	Broad	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;			1270908		0.647	ENSG00000117983	9797	g.chr11:1270908G>A	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding							11.914571	KEEP	8	17	-1	81	97	8	17	-1	28.864426	81	97	0.108108	1	0	0	0	0	0	0	1	0	--	--		0	A			MUC5B_uc001ltb.2_Silent_p.T4269T	151	GBM-14-3476-TP	p.T4739T	G	CTGGATCCACGGCCACCCCGT	NM_017511	NP_059981	1270908	Q9HC84	MUC5B_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	51	14343	+	A	A		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	Silent	4266			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.			
MUC5B	0	broad.mit.edu	GRCh37	11	1250506	1250506	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-26-5135-01	TCGA-26-5135-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000529681.1:c.1083C>T	p.Asp361=	p.D361=	ENST00000529681	NM_002458.2	361	gaC/gaT	0			1			T	D	uc009ycr.1	protein_coding	YES	CCDS44515.2			1083/17289										0	c.(3049-3051)GAC>GAT			hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237,Gene3D:2.10.25.10,Pfam_domain:PF01826,Superfamily_domains:SSF57567	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;				ENSP00000436812		Sep-49	3.34E-05			0.000371		0.000123			rs200948745,COSM3397520,COSM3397519	Sep-49	.		ENST00000529681	Transcript	1		cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	ENSG00000117983	g.chr11:1250506C>T	7516			LOW								--	--	1																																		MUC5B_uc009yct.1_Silent_p.D361D|MUC5B_uc001ltb.2_Silent_p.D361D|MUC5B_uc001lta.2_Silent_p.D29D	0,1,1	1			p.D1017D	NM_017511	NP_059981			0,1,1	MUC5B_HUMAN	MUC5B	HGNC	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	Q93043_HUMAN		25	3177	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	UPI0001DD21C7	361			TIL 1.		SNV	MUC5B,synonymous_variant,p.=,ENST00000447027,;MUC5B,synonymous_variant,p.=,ENST00000529681,NM_002458.2;MUC5B,non_coding_transcript_exon_variant,,ENST00000531082,;MUC5B,non_coding_transcript_exon_variant,,ENST00000525715,;	uc009ycr.1	c.3051C>T	1141/17911	1	1			c.3051C>T						11	SNP	c.(3049-3051)GAC>GAT	9	9				0	Broad	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;			1250506		0.682	ENSG00000117983	9797	g.chr11:1250506C>T	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding							8.522893	KEEP	4	0	-1	5	3	4	0	-1	8.632678	5	3	0.375	1	0	0	0	0	0	0	1	0	--	--		0	T			MUC5B_uc009yct.1_Silent_p.D361D|MUC5B_uc001ltb.2_Silent_p.D361D|MUC5B_uc001lta.2_Silent_p.D29D	184	GBM-26-5135-TP	p.D1017D	C	ACTGTGTGGACGGCTGCTTCT	NM_017511	NP_059981	1250506	Q9HC84	MUC5B_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	25	3177	+	T	T		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	Silent	361			TIL 1.			
MUC5B	0	broad.mit.edu	GRCh37	11	1263896	1263896	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01	TCGA-76-4927-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000529681.1:c.5786C>T	p.Thr1929Ile	p.T1929I	ENST00000529681	NM_002458.2	1929	aCc/aTc	0			1			T	T/I	uc009ycr.1	protein_coding	YES	CCDS44515.2			5786/17289										0	c.(7864-7866)ACC>ATC			Low_complexity_(Seg):seg,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;				ENSP00000436812		31/49									COSM3397534,COSM3397533	31/49	.		ENST00000529681	Transcript	1		cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	ENSG00000117983	g.chr11:1263896C>T	7516			MODERATE		1.975	medium	getma.org/?cm=msa&ty=f&p=MUC5B_HUMAN&rb=1884&re=2318&var=T1929I	NA	getma.org/?cm=var&var=hg19,11,1263896,C,T&fts=all	T1929I	--	--	1																																		MUC5B_uc001ltb.2_Missense_Mutation_p.T1932I	1,1	1		unknown(0)	p.T2622I	NM_017511	NP_059981			1,1	MUC5B_HUMAN	MUC5B	HGNC	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	Q93043_HUMAN		47	7991	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	UPI0001DD21C7	1929			7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		SNV	MUC5B,missense_variant,p.Thr1932Ile,ENST00000447027,;MUC5B,missense_variant,p.Thr1929Ile,ENST00000529681,NM_002458.2;RP11-532E4.2,intron_variant,,ENST00000532061,;MUC5B,downstream_gene_variant,,ENST00000525715,;	uc009ycr.1	c.7865C>T	5844/17911	2	2			c.7865C>T						11	SNP	c.(7864-7866)ACC>ATC	25	25				0	Broad	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;			1263896		0.637	ENSG00000117983	9797	g.chr11:1263896C>T	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding							132.190644	KEEP	25	40	-1	59	78	25	40	-1	138.129813	59	78	0.304598	1	0	0	0	0	1	0	0	0	--	--		0	T			MUC5B_uc001ltb.2_Missense_Mutation_p.T1932I	267	GBM-76-4927-TP	p.T2622I	C	CCGACCTCCACCCTGAGAACA	NM_017511	NP_059981	1263896	Q9HC84	MUC5B_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	47	7991	+	T	T		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	Missense_Mutation	1929			7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.			
MUC5B	727897	broad.mit.edu	GRCh37	11	1283520	1283520	+	downstream_gene_variant	3'Flank	SNP	A	A	C			TCGA-06-5412-01	TCGA-06-5412-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.				ENST00000529681	NM_002458.2			0			1			C		uc009ycr.1	protein_coding	YES	CCDS44515.2			-/17289										0	c.(18277-18279)GAC>GCC	118			SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;				ENSP00000436812			0.00085	0.00038		0.000362	0.00922	0.00032	0.00266	0.000145	rs756554627		common_variant		ENST00000529681	Transcript	1		cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	ENSG00000117983	g.chr11:1283520A>C	7516			MODIFIER								--	--	1																																				1			p.D6093A	NM_017511	NP_059981				MUC5B_HUMAN	MUC5B	HGNC	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	Q93043_HUMAN		72	18404	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	UPI0001DD21C7	Error:Variant_position_missing_in_Q9HC84_after_alignment					SNV	MUC5B,downstream_gene_variant,,ENST00000447027,;MUC5B,downstream_gene_variant,,ENST00000529681,NM_002458.2;MUC5B,downstream_gene_variant,,ENST00000526859,;MUC5B,downstream_gene_variant,,ENST00000527802,;	uc009ycr.1	c.18278A>C	-/17911	4	4			c.18278A>C						11	SNP	c.(18277-18279)GAC>GCC	43	43				0	Broad	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;			1283520		0.657	ENSG00000117983	9797	g.chr11:1283520A>C	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding							-8.236015	KEEP	18	27	-1	44	57	18	27	-1	7.118334	44	57	0.117647	1	0	0	0	0	1	0	0	0	--	--		0	C				95	GBM-06-5412-TP	p.D6093A	A	GCAGTCCAGGACCCCCAGCAG	NM_017511	NP_059981	1283520	Q9HC84	MUC5B_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	72	18404	+	C	C		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	Missense_Mutation	Error:Variant_position_missing_in_Q9HC84_after_alignment						
MUC5B	727897		GRCh37	11	1273709	1273709	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000529681.1:c.15000G>A	p.Ser5000=	p.S5000=	ENST00000529681	NM_002458.2	5000	tcG/tcA	0																																																																																																																																																																																																																																												
MUC6	0	broad.mit.edu	GRCh37	11	1025025	1025025	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6285-01	TCGA-76-6285-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000421673.2:c.3044C>T	p.Thr1015Met	p.T1015M	ENST00000421673	NM_005961.2	1015	aCg/aTg	0	A:0.0002		1			A	T/M	uc001lsw.2	protein_coding	YES	CCDS44513.1			3044/7320									ovary(1)	1	c.(3043-3045)ACG>ATG			SMART_domains:SM00216,Pfam_domain:PF00094,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF264,PROSITE_profiles:PS51233	mucin 6, gastric			A:0	ENSP00000406861		24/33	4.13E-05	0.000209				4.62E-05			rs367909154,COSM3397358,COSM3397359	24/33	.		ENST00000421673	Transcript			maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	ENSG00000184956	g.chr11:1025025G>A	7517			MODERATE		2.44	medium	getma.org/?cm=msa&ty=f&p=MUC6_HUMAN&rb=868&re=1019&var=T1015M	NA	getma.org/?cm=var&var=hg19,11,1025025,G,A&fts=all	T1015M	--	--	1																																			0,1,1	1		unknown(0)	p.T1015M	NM_005961	NP_005952			0,1,1	MUC6_HUMAN	MUC6	HGNC	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Q6W3D1_HUMAN,H9XFC0_HUMAN,H9XFB9_HUMAN,H9XFB8_HUMAN,H9XFB7_HUMAN		24	3095	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	UPI0000251DBE	1015			VWFD 3.		SNV	MUC6,missense_variant,p.Thr1015Met,ENST00000421673,NM_005961.2;MUC6,upstream_gene_variant,,ENST00000527242,;	uc001lsw.2	c.3044C>T	3095/8006	2	2			c.3044C>T						11	SNP	c.(3043-3045)ACG>ATG	39	39			ovary(1)	1	Broad	mucin 6, gastric			1025025		0.637	ENSG00000184956	9798	g.chr11:1025025G>A	maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent							48.363157	KEEP	6	11	-1	11	16	6	11	-1	48.86157	11	16	0.386364	1	0	0	0	0	1	0	0	0	--	--		0	A				280	GBM-76-6285-TP	p.T1015M	G	CCTGCTGCGCGTCTCGAAGTC	NM_005961	NP_005952	1025025	Q6W4X9	MUC6_HUMAN	0		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	24	3095	-	A	A		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	Missense_Mutation	1015			VWFD 3.			
MUC7	4589	broad.mit.edu	GRCh37	4	71346617	71346617	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-5411-01	TCGA-06-5411-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000413702.1:c.156A>G	p.Leu52=	p.L52=	ENST00000413702	NM_001145006.1	52	ctA/ctG	0			1			G	L	uc011cat.1	protein_coding		CCDS3541.1			156/1134									ovary(2)|central_nervous_system(1)|skin(1)	4	c.(154-156)CTA>CTG				mucin 7, secreted precursor				ENSP00000302021		3-Mar									COSM2153149	3-Mar	.		ENST00000304887	Transcript	1			extracellular region	protein binding	ENSG00000171195	g.chr4:71346617A>G	7518			LOW								--	--	1																																		MUC7_uc011cau.1_Silent_p.L52L|MUC7_uc003hfj.2_Silent_p.L52L|uc011cav.1_RNA	1				p.L52L	NM_001145006	NP_001138478			1	MUC7_HUMAN	MUC7	HGNC	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		D6RHX1_HUMAN		4	444	+			UPI000013E9DD	52					SNV	MUC7,synonymous_variant,p.=,ENST00000413702,NM_001145006.1;MUC7,synonymous_variant,p.=,ENST00000456088,NM_001145007.1;MUC7,synonymous_variant,p.=,ENST00000304887,NM_152291.2;MUC7,synonymous_variant,p.=,ENST00000505411,;MUC7,non_coding_transcript_exon_variant,,ENST00000514512,;MUC7,non_coding_transcript_exon_variant,,ENST00000504482,;	uc011cat.1	c.156A>G	346/2443	3	3			c.156A>G						4	SNP	c.(154-156)CTA>CTG	59	59			ovary(2)|central_nervous_system(1)|skin(1)	4	Broad	mucin 7, secreted precursor			71346617		0.453	ENSG00000171195	9799	g.chr4:71346617A>G		extracellular region	protein binding							106.931199	KEEP	16	23	-1	67	62	16	23	-1	114.765542	67	62	0.253521	1	0	0	0	0	0	0	1	0	--	--		0	G			MUC7_uc011cau.1_Silent_p.L52L|MUC7_uc003hfj.2_Silent_p.L52L|uc011cav.1_RNA	94	GBM-06-5411-TP	p.L52L	A	CTGGACTGCTAGCTCACCAGA	NM_001145006	NP_001138478	71346617	Q8TAX7	MUC7_HUMAN	0	Lung(101;0.211)		4	444	+	G	G			Silent	52						
MUC7	4589	broad.mit.edu	GRCh37	4	71346565	71346565	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-5856-01	TCGA-06-5856-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000413702.1:c.104A>G	p.His35Arg	p.H35R	ENST00000413702	NM_001145006.1	35	cAt/cGt	0			1			G	H/R	uc011cat.1	protein_coding		CCDS3541.1			104/1134									ovary(2)|central_nervous_system(1)|skin(1)	4	c.(103-105)CAT>CGT			Low_complexity_(Seg):seg	mucin 7, secreted precursor				ENSP00000302021		3-Mar	8.24E-06					1.50E-05			rs768817716,COSM3409453	3-Mar	.		ENST00000304887	Transcript	1			extracellular region	protein binding	ENSG00000171195	g.chr4:71346565A>G	7518			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=MUC7_HUMAN&rb=1&re=200&var=H35R	NA	getma.org/?cm=var&var=hg19,4,71346565,A,G&fts=all	H35R	--	--	1																																		MUC7_uc011cau.1_Missense_Mutation_p.H35R|MUC7_uc003hfj.2_Missense_Mutation_p.H35R|uc011cav.1_RNA	0,1			benign(0.261)	p.H35R	NM_001145006	NP_001138478		tolerated(0.37)	0,1	MUC7_HUMAN	MUC7	HGNC	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		D6RHX1_HUMAN		4	392	+			UPI000013E9DD	35					SNV	MUC7,missense_variant,p.His35Arg,ENST00000413702,NM_001145006.1;MUC7,missense_variant,p.His35Arg,ENST00000456088,NM_001145007.1;MUC7,missense_variant,p.His35Arg,ENST00000304887,NM_152291.2;MUC7,missense_variant,p.His35Arg,ENST00000505411,;MUC7,non_coding_transcript_exon_variant,,ENST00000514512,;MUC7,non_coding_transcript_exon_variant,,ENST00000504482,;	uc011cat.1	c.104A>G	294/2443	3	3			c.104A>G						4	SNP	c.(103-105)CAT>CGT	14	14			ovary(2)|central_nervous_system(1)|skin(1)	4	Broad	mucin 7, secreted precursor			71346565		0.318	ENSG00000171195	9799	g.chr4:71346565A>G		extracellular region	protein binding							38.388877	KEEP	14	10	-1	48	47	14	10	-1	49.102265	48	47	0.171429	1	0	0	0	0	1	0	0	0	--	--		0	G			MUC7_uc011cau.1_Missense_Mutation_p.H35R|MUC7_uc003hfj.2_Missense_Mutation_p.H35R|uc011cav.1_RNA	101	GBM-06-5856-TP	p.H35R	A	AGAAGGCATCATCACCAATCA	NM_001145006	NP_001138478	71346565	Q8TAX7	MUC7_HUMAN	0	Lung(101;0.211)		4	392	+	G	G			Missense_Mutation	35						
MUL1	0	broad.mit.edu	GRCh37	1	20828674	20828674	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-5136-01	TCGA-26-5136-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264198.3:c.217C>T	p.Arg73Trp	p.R73W	ENST00000264198	NM_024544.2	73	Cgg/Tgg	0			1			A	R/W	uc001bdi.3	protein_coding	YES	CCDS208.1			217/1059										0	c.(217-219)CGG>TGG			hmmpanther:PTHR12183,hmmpanther:PTHR12183:SF4	mitochondrial ubiquitin ligase activator of NFKB				ENSP00000264198		4-Mar	1.65E-05					1.50E-05		6.06E-05	rs772862505,COSM1215957	4-Mar	.		ENST00000264198	Transcript			activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000090432	g.chr1:20828674G>A	25762			MODERATE		1.95	medium	getma.org/?cm=msa&ty=f&p=MUL1_HUMAN&rb=1&re=94&var=R73W	NA	getma.org/?cm=var&var=hg19,1,20828674,G,A&fts=all	R73W	--	--	1																																			0,1	1		benign(0.001)	p.R73W	NM_024544	NP_078820		deleterious(0.03)	0,1	MUL1_HUMAN	MUL1	HGNC	Q969V5	MUL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	B7Z8S4_HUMAN		3	374	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	UPI00000361FC	73			Mitochondrial intermembrane (Potential).		SNV	MUL1,missense_variant,p.Arg73Trp,ENST00000264198,NM_024544.2;	uc001bdi.3	c.217C>T	354/2436	2	2			c.217C>T						1	SNP	c.(217-219)CGG>TGG	33	33				0	Broad	mitochondrial ubiquitin ligase activator of NFKB			20828674		0.388	ENSG00000090432	9802	g.chr1:20828674G>A	activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding							-57.824343	KEEP	2	3	-1	118	157	2	3	-1	7.35125	118	157	0.019841	1	0	0	0	0	1	0	0	0	--	--		0	A				185	GBM-26-5136-TP	p.R73W	G	TTAACAGACCGCACAGCTCCT	NM_024544	NP_078820	20828674	Q969V5	MUL1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	3	374	-	A	A		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	Missense_Mutation	73			Mitochondrial intermembrane (Potential).			
MUM1	0	broad.mit.edu	GRCh37	19	1357015	1357015	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01	TCGA-06-0155-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344663.3:c.68C>T	p.Ala23Val	p.A23V	ENST00000344663		23	gCc/gTc	0			1			T	A/V	uc010xgm.1	protein_coding	YES	CCDS12062.1			68/2136										0	c.(64-66)GCC>GTC			hmmpanther:PTHR31333,hmmpanther:PTHR31333:SF4	SubName: Full=MUM1 protein;				ENSP00000345789		14-Mar									COSM3403819	14-Mar	.		ENST00000344663	Transcript			chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding	ENSG00000160953	g.chr19:1357015C>T	29641			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=MUM1_HUMAN&rb=1&re=200&var=A22V	NA	getma.org/?cm=var&var=hg19,19,1357015,C,T&fts=all	A22V	--	--	1																																		MUM1_uc010dsi.2_5'UTR|MUM1_uc002lrz.2_Missense_Mutation_p.A23V|MUM1_uc002lsb.2_5'UTR|MUM1_uc002lsc.1_5'Flank	1	1		possibly_damaging(0.859)	p.A22V				deleterious(0.02)	1		MUM1	HGNC	Q2TAK8	MUM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	K7EP97_HUMAN,K7END0_HUMAN,J3KNX4_HUMAN		2	134	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	UPI00001A95DB	22					SNV	MUM1,missense_variant,p.Ala23Val,ENST00000344663,;MUM1,missense_variant,p.Ala23Val,ENST00000591806,NM_032853.3;MUM1,missense_variant,p.Ala23Val,ENST00000415183,;MUM1,missense_variant,p.Ala23Val,ENST00000591337,;MUM1,missense_variant,p.Ala23Val,ENST00000592374,;MUM1,5_prime_UTR_variant,,ENST00000311401,;MUM1,missense_variant,p.Ala23Val,ENST00000587460,;MUM1,missense_variant,p.Ala23Val,ENST00000591433,;MUM1,missense_variant,p.Ala23Val,ENST00000588810,;MUM1,non_coding_transcript_exon_variant,,ENST00000590695,;MUM1,non_coding_transcript_exon_variant,,ENST00000590866,;MUM1,non_coding_transcript_exon_variant,,ENST00000588351,;MUM1,upstream_gene_variant,,ENST00000586996,;	uc010xgm.1	c.65C>T	169/4092	2	2			c.65C>T						19	SNP	c.(64-66)GCC>GTC	26	26				0	Broad	SubName: Full=MUM1 protein;			1357015		0.353	ENSG00000160953	9803	g.chr19:1357015C>T	chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding							-27.721838	KEEP	2	2	-1	66	82	2	2	-1	6.535214	66	82	0.028571	1	0	0	0	0	1	0	0	0	--	--		0	T			MUM1_uc010dsi.2_5'UTR|MUM1_uc002lrz.2_Missense_Mutation_p.A23V|MUM1_uc002lsb.2_5'UTR|MUM1_uc002lsc.1_5'Flank	27	GBM-06-0155-TP	p.A22V	C	TAGGTTTTGGCCCGAACCGCG			1357015	Q2TAK8	MUM1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	134	+	T	T		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	Missense_Mutation	22						
MUM1L1	0	broad.mit.edu	GRCh37	X	105451028	105451028	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0125-01	TCGA-06-0125-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337685.2:c.1603A>C	p.Met535Leu	p.M535L	ENST00000337685	NM_152423.4	535	Atg/Ctg	0			1			C	M/L	uc004emf.1	protein_coding	YES	CCDS55469.1			1603/2091									ovary(2)|pancreas(1)|skin(1)	4	c.(1603-1605)ATG>CTG			hmmpanther:PTHR31333,hmmpanther:PTHR31333:SF3	melanoma associated antigen (mutated) 1-like 1				ENSP00000338641		5-May									COSM3405816,COSM3405815	5-May	.		ENST00000337685	Transcript						ENSG00000157502	g.chrX:105451028A>C	26583			MODERATE		0.755	neutral	getma.org/?cm=msa&ty=f&p=MUML1_HUMAN&rb=401&re=600&var=M535L	NA	getma.org/?cm=var&var=hg19,X,105451028,A,C&fts=all	M535L	--	--	1																																		MUM1L1_uc004emg.1_Missense_Mutation_p.M535L	1,1	1		benign(0.009)	p.M535L	NM_152423	NP_689636		tolerated(1)	1,1	MUML1_HUMAN	MUM1L1	HGNC	Q5H9M0	MUML1_HUMAN					4	2252	+			UPI0000212206	535					SNV	MUM1L1,missense_variant,p.Met535Leu,ENST00000337685,NM_152423.4;MUM1L1,missense_variant,p.Met535Leu,ENST00000357175,NM_001171020.1;MUM1L1,missense_variant,p.Met535Leu,ENST00000372552,;	uc004emf.1	c.1603A>C	2388/4308	3	3			c.1603A>C						23	SNP	c.(1603-1605)ATG>CTG	12	12			ovary(2)|pancreas(1)|skin(1)	4	Broad	melanoma associated antigen (mutated) 1-like 1			105451028		0.453	ENSG00000157502	9804	g.chrX:105451028A>C										53.92336	KEEP	5	10	-1	10	9	5	10	-1	53.982515	10	9	0.454545	1	0	0	0	0	1	0	0	0	--	--		0	C			MUM1L1_uc004emg.1_Missense_Mutation_p.M535L	12	GBM-06-0125-TP	p.M535L	A	GACCAAGAAAATGTCCTTCCA	NM_152423	NP_689636	105451028	Q5H9M0	MUML1_HUMAN	0			4	2252	+	C	C			Missense_Mutation	535						
MUM1L1	0	broad.mit.edu	GRCh37	X	105450617	105450617	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0743-01	TCGA-06-0743-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337685.2:c.1194del	p.Phe398LeufsTer12	p.F398Lfs*12	ENST00000337685	NM_152423.4	398	Ttt/tt	0			1			-	F/X	uc004emf.1	protein_coding	YES	CCDS55469.1			1192/2091									ovary(2)|pancreas(1)|skin(1)	4	c.(1192-1194)TTTfs			hmmpanther:PTHR31333,hmmpanther:PTHR31333:SF3,Gene3D:2.30.30.160,Pfam_domain:PF00855,Superfamily_domains:SSF63748	melanoma associated antigen (mutated) 1-like 1				ENSP00000338641		5-May										5-May	.		ENST00000337685	Transcript						ENSG00000157502	g.chrX:105450617delT	26583	2		HIGH								--	--	1																																		MUM1L1_uc004emg.1_Frame_Shift_Del_p.F398fs		1			p.F398fs	NM_152423	NP_689636				MUML1_HUMAN	MUM1L1	HGNC	Q5H9M0	MUML1_HUMAN					4	1841	+			UPI0000212206	398			PWWP.		deletion	MUM1L1,frameshift_variant,p.Phe398LeufsTer12,ENST00000337685,NM_152423.4;MUM1L1,frameshift_variant,p.Phe398LeufsTer12,ENST00000357175,NM_001171020.1;MUM1L1,frameshift_variant,p.Phe398LeufsTer12,ENST00000372552,;	uc004emf.1	c.1192delT	1977/4308	5	5			c.1192delT						23	DEL	c.(1192-1194)TTTfs	13	13			ovary(2)|pancreas(1)|skin(1)	4	Broad	melanoma associated antigen (mutated) 1-like 1			105450617		0.358	ENSG00000157502	9804	g.chrX:105450617delT																							0.71	1	1	0	1	0	0	0	0	0	--	--		0	-			MUM1L1_uc004emg.1_Frame_Shift_Del_p.F398fs	65	GBM-06-0743-TP	p.F398fs	T	GATAGTCTGGTTTAAATATCA	NM_152423	NP_689636	105450617	Q5H9M0	MUML1_HUMAN	0			4	1841	+	-	-			Frame_Shift_Del	398			PWWP.			
MUM1L1			GRCh37	X	105450536	105450536	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000337685.2:c.1111G>A	p.Asp371Asn	p.D371N	ENST00000337685	NM_152423.4	371	Gat/Aat	0																																																																																																																																																																																																																																												
MUS81	0	broad.mit.edu	GRCh37	11	65628471	65628471	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-5213-01	TCGA-28-5213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308110.4:c.163C>T	p.Leu55=	p.L55=	ENST00000308110	NM_025128.4	55	Ctg/Ttg	0			1			T	L	uc001ofv.3	protein_coding	YES	CCDS8115.1			163/1656										0	c.(163-165)CTG>TTG		Homologous_recombination	Gene3D:1bpeA01,hmmpanther:PTHR13451,hmmpanther:PTHR13451:SF0,Low_complexity_(Seg):seg,Superfamily_domains:SSF47802	MUS81 endonuclease homolog				ENSP00000307853		16-Feb									COSM3398051,COSM3398050	16-Feb	.		ENST00000308110	Transcript			DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding	ENSG00000172732	g.chr11:65628471C>T	29814			LOW								--	--	1																																		CFL1_uc001ofs.2_5'Flank|CFL1_uc001oft.2_5'Flank|CFL1_uc001ofu.2_5'Flank|MUS81_uc001ofw.3_RNA|MUS81_uc001ofx.3_5'Flank	1,1	1			p.L55L	NM_025128	NP_079404			1,1	MUS81_HUMAN	MUS81	HGNC	Q96NY9	MUS81_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	H0YE94_HUMAN,E9PRI1_HUMAN,E9PL60_HUMAN		2	516	+			UPI000013ECCB	55					SNV	MUS81,synonymous_variant,p.=,ENST00000308110,NM_025128.4;MUS81,synonymous_variant,p.=,ENST00000529857,;MUS81,5_prime_UTR_variant,,ENST00000533035,;MUS81,5_prime_UTR_variant,,ENST00000525768,;CFL1,intron_variant,,ENST00000532134,;CFL1,intron_variant,,ENST00000534769,;CFL1,upstream_gene_variant,,ENST00000525451,;CFL1,upstream_gene_variant,,ENST00000308162,NM_005507.2;MUS81,upstream_gene_variant,,ENST00000529374,;CFL1,upstream_gene_variant,,ENST00000531407,;CFL1,upstream_gene_variant,,ENST00000527344,;CFL1,upstream_gene_variant,,ENST00000524553,;CFL1,upstream_gene_variant,,ENST00000534784,;MUS81,upstream_gene_variant,,ENST00000529742,;MUS81,upstream_gene_variant,,ENST00000530111,;CFL1,upstream_gene_variant,,ENST00000530413,;CFL1,upstream_gene_variant,,ENST00000531413,;CFL1,upstream_gene_variant,,ENST00000526975,;CFL1,upstream_gene_variant,,ENST00000527752,;MUS81,upstream_gene_variant,,ENST00000525006,;MUS81,upstream_gene_variant,,ENST00000525224,;MUS81,synonymous_variant,p.=,ENST00000524647,;MUS81,upstream_gene_variant,,ENST00000531905,;SNX32,downstream_gene_variant,,ENST00000530101,;MUS81,upstream_gene_variant,,ENST00000530928,;CFL1,upstream_gene_variant,,ENST00000530945,;MUS81,upstream_gene_variant,,ENST00000529786,;MUS81,upstream_gene_variant,,ENST00000530282,;MUS81,upstream_gene_variant,,ENST00000533519,;MUS81,upstream_gene_variant,,ENST00000533555,;MUS81,upstream_gene_variant,,ENST00000525147,;	uc001ofv.3	c.163C>T	512/2392	1	1			c.163C>T						11	SNP	c.(163-165)CTG>TTG	7	7				0	Broad	MUS81 endonuclease homolog	Homologous_recombination		65628471		0.682	ENSG00000172732	9806	g.chr11:65628471C>T	DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding							37.395245	KEEP	6	14	-1	45	41	6	14	-1	44.730199	45	41	0.202247	1	0	0	0	0	0	0	1	0	--	--		0	T			CFL1_uc001ofs.2_5'Flank|CFL1_uc001oft.2_5'Flank|CFL1_uc001ofu.2_5'Flank|MUS81_uc001ofw.3_RNA|MUS81_uc001ofx.3_5'Flank	220	GBM-28-5213-TP	p.L55L	C	ACGGTACCCACTGCCGCTGCG	NM_025128	NP_079404	65628471	Q96NY9	MUS81_HUMAN	0		READ - Rectum adenocarcinoma(159;0.166)	2	516	+	T	T			Silent	55						
MUSK	0	broad.mit.edu	GRCh37	9	113445003	113445003	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-14-0813-01	TCGA-14-0813-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374448.4:c.129A>T	p.Glu43Asp	p.E43D	ENST00000374448	NM_005592.3	43	gaA/gaT	0			1			T	E/D	uc004bey.2	protein_coding	YES	CCDS48005.1			129/2610									lung(3)|ovary(2)|central_nervous_system(1)	6	c.(127-129)GAA>GAT			Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF63,PROSITE_profiles:PS50835	skeletal muscle receptor tyrosine kinase				ENSP00000363571		15-Feb									COSM3413249,COSM3413248	15-Feb	.		ENST00000374448	Transcript	1		transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	ENSG00000030304	g.chr9:113445003A>T	7525			MODERATE		1.055	low	getma.org/?cm=msa&ty=f&p=MUSK_HUMAN&rb=28&re=117&var=E43D	getma.org/pdb.php?prot=MUSK_HUMAN&from=28&to=117&var=E43D	getma.org/?cm=var&var=hg19,9,113445003,A,T&fts=all	E43D	--	--	1																																		MUSK_uc004bex.2_Missense_Mutation_p.E43D	1,1	1		benign(0.01)	p.E43D	NM_005592	NP_005583		tolerated_low_confidence(0.32)	1,1	MUSK_HUMAN	MUSK	HGNC	O15146	MUSK_HUMAN					2	227	+			UPI000006D2F7	43			Ig-like 1.|Extracellular (Potential).		SNV	MUSK,missense_variant,p.Glu43Asp,ENST00000416899,;MUSK,missense_variant,p.Glu43Asp,ENST00000189978,;MUSK,missense_variant,p.Glu43Asp,ENST00000374448,NM_005592.3,NM_001166281.1;MUSK,5_prime_UTR_variant,,ENST00000374440,;MUSK,upstream_gene_variant,,ENST00000374439,;	uc004bey.2	c.129A>T	263/2754	2	2			c.129A>T						9	SNP	c.(127-129)GAA>GAT	34	34			lung(3)|ovary(2)|central_nervous_system(1)	6	Broad	skeletal muscle receptor tyrosine kinase			113445003		0.378	ENSG00000030304	9807	g.chr9:113445003A>T	transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			297			297	-21.423839	KEEP	12	3	-1	138	91	12	3	-1	25.842107	138	91	0.056769	1	0	0	0	0	1	0	0	0	--	--		0	T			MUSK_uc004bex.2_Missense_Mutation_p.E43D	138	GBM-14-0813-TP	p.E43D	A	TAGTTGAAGAAGTGGCTACTT	NM_005592	NP_005583	113445003	O15146	MUSK_HUMAN	0			2	227	+	T	T			Missense_Mutation	43			Ig-like 1.|Extracellular (Potential).			
MUT	0	broad.mit.edu	GRCh37	6	49419405	49419405	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01	TCGA-06-0939-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274813.3:c.1106G>A	p.Arg369His	p.R369H	ENST00000274813	NM_000255.3	369	cGt/cAt	0			1			T	R/H	uc003ozg.3	protein_coding	YES	CCDS4924.1			1106/2253										0	c.(1105-1107)CGT>CAT			Gene3D:3.20.20.240,Pfam_domain:PF01642,hmmpanther:PTHR23408,hmmpanther:PTHR23408:SF1,Superfamily_domains:SSF51703,TIGRFAM_domain:TIGR00641	methylmalonyl Coenzyme A mutase precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)			ENSP00000274813		13-Jun	4.12E-05		8.72E-05	0.000116		4.54E-05			rs564069299,COSM2152418	13-Jun	.		ENST00000274813	Transcript	1		fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	ENSG00000146085	g.chr6:49419405C>T	7526			MODERATE		4.685	high	getma.org/?cm=msa&ty=f&p=MUTA_HUMAN&rb=61&re=576&var=R369H	getma.org/pdb.php?prot=MUTA_HUMAN&from=61&to=576&var=R369H	getma.org/?cm=var&var=hg19,6,49419405,C,T&fts=all	R369H	--	--	1																																			0,1	1		probably_damaging(0.996)	p.R369H	NM_000255	NP_000246		deleterious_low_confidence(0)	0,1	MUTA_HUMAN	MUT	HGNC	P22033	MUTA_HUMAN			S4UML7_HUMAN,T1WHH0_HUMAN		6	1361	-	Lung NSC(77;0.0376)		UPI000013DA28	369		R -> H (in MMAM; mut- and mut0).|R -> C (in MMAM; mut0).			SNV	MUT,missense_variant,p.Arg369His,ENST00000274813,NM_000255.3;	uc003ozg.3	c.1106G>A	1234/3749	2	2			c.1106G>A						6	SNP	c.(1105-1107)CGT>CAT	30	30				0	Broad	methylmalonyl Coenzyme A mutase precursor		Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	49419405		0.348	ENSG00000146085	9809	g.chr6:49419405C>T	fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity							60.351287	KEEP	13	15	-1	35	47	13	15	-1	66.520608	35	47	0.24	1	0	0	0	0	1	0	0	0	--	--		0	T				78	GBM-06-0939-TP	p.R369H	C	TATTGCAGTACGGACAATATT	NM_000255	NP_000246	49419405	P22033	MUTA_HUMAN	0			6	1361	-	T	T	Lung NSC(77;0.0376)		Missense_Mutation	369		R -> H (in MMAM; mut- and mut0).|R -> C (in MMAM; mut0).				
MUTYH	0	broad.mit.edu	GRCh37	1	45797465	45797465	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-26-5133-01	TCGA-26-5133-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372098.3:c.1045A>T	p.Thr349Ser	p.T349S	ENST00000372098		349	Acc/Tcc	0			1			A	T/S	uc001cnm.2	protein_coding	YES	CCDS520.1			1045/1641	Mis			colorectal						0	c.(1045-1047)ACC>TCC		BER_DNA_glycosylases	hmmpanther:PTHR10359:SF24,hmmpanther:PTHR10359	mutY homolog isoform 1				ENSP00000361170		16-Dec									COSM2156973	16-Dec	.	MUTYH-associated_polyposis	ENST00000372098	Transcript	1		depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding	ENSG00000132781	g.chr1:45797465T>A	7527			MODERATE		0.395	neutral	getma.org/?cm=msa&ty=f&p=MUTYH_HUMAN&rb=266&re=465&var=T349S	getma.org/pdb.php?prot=MUTYH_HUMAN&from=266&to=465&var=T349S	getma.org/?cm=var&var=hg19,1,45797465,T,A&fts=all	T349S	--	--	1																																		MUTYH_uc009vxn.2_Missense_Mutation_p.T174S|MUTYH_uc001cnf.2_Missense_Mutation_p.T324S|MUTYH_uc009vxo.2_Missense_Mutation_p.T324S|MUTYH_uc001cng.2_Missense_Mutation_p.T335S|MUTYH_uc001cnj.2_Missense_Mutation_p.T232S|MUTYH_uc001cni.2_Missense_Mutation_p.T324S|MUTYH_uc001cnh.2_Missense_Mutation_p.T325S|MUTYH_uc001cno.2_Missense_Mutation_p.T232S|MUTYH_uc001cnk.2_Missense_Mutation_p.T209S|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Missense_Mutation_p.T338S|MUTYH_uc009vxp.2_Missense_Mutation_p.T352S|MUTYH_uc001cnn.2_Missense_Mutation_p.T339S	1	1		benign(0)	p.T349S	NM_012222	NP_036354		tolerated(1)	1	MUTYH_HUMAN	MUTYH	HGNC	Q9UIF7	MUTYH_HUMAN			E5KP26_HUMAN,Q8TDZ3_HUMAN,Q5T413_HUMAN,D3DPZ6_HUMAN		12	1261	-	Acute lymphoblastic leukemia(166;0.155)		UPI000006EB4F	349					SNV	MUTYH,missense_variant,p.Thr352Ser,ENST00000450313,NM_012222.2,NM_001128425.1;MUTYH,missense_variant,p.Thr338Ser,ENST00000372115,NM_001048171.1;MUTYH,missense_variant,p.Thr349Ser,ENST00000372098,;MUTYH,missense_variant,p.Thr324Ser,ENST00000372104,;MUTYH,missense_variant,p.Thr339Ser,ENST00000372110,;MUTYH,missense_variant,p.Thr335Ser,ENST00000372100,;MUTYH,missense_variant,p.Thr324Ser,ENST00000355498,NM_001048172.1,NM_001048173.1;MUTYH,missense_variant,p.Thr325Ser,ENST00000354383,;MUTYH,missense_variant,p.Thr335Ser,ENST00000448481,;MUTYH,missense_variant,p.Thr324Ser,ENST00000456914,NM_001048174.1;MUTYH,missense_variant,p.Thr338Ser,ENST00000528013,;MUTYH,missense_variant,p.Thr196Ser,ENST00000412971,;MUTYH,intron_variant,,ENST00000529984,;MUTYH,intron_variant,,ENST00000528332,;MUTYH,intron_variant,,ENST00000488731,;MUTYH,intron_variant,,ENST00000529892,;MUTYH,intron_variant,,ENST00000531105,;HPDL,downstream_gene_variant,,ENST00000334815,NM_032756.2;MUTYH,downstream_gene_variant,,ENST00000435155,;MUTYH,downstream_gene_variant,,ENST00000483127,;MUTYH,missense_variant,p.Arg129Ser,ENST00000467459,;MUTYH,3_prime_UTR_variant,,ENST00000481571,;MUTYH,3_prime_UTR_variant,,ENST00000475516,;MUTYH,3_prime_UTR_variant,,ENST00000533178,;MUTYH,non_coding_transcript_exon_variant,,ENST00000482094,;MUTYH,non_coding_transcript_exon_variant,,ENST00000462388,;MUTYH,non_coding_transcript_exon_variant,,ENST00000466231,;MUTYH,downstream_gene_variant,,ENST00000483642,;MUTYH,downstream_gene_variant,,ENST00000481139,;MUTYH,downstream_gene_variant,,ENST00000492494,;MUTYH,downstream_gene_variant,,ENST00000467940,;MUTYH,downstream_gene_variant,,ENST00000479746,;MUTYH,downstream_gene_variant,,ENST00000461495,;MUTYH,downstream_gene_variant,,ENST00000476789,;MUTYH,downstream_gene_variant,,ENST00000470256,;MUTYH,downstream_gene_variant,,ENST00000462387,;MUTYH,downstream_gene_variant,,ENST00000485484,;MUTYH,downstream_gene_variant,,ENST00000478796,;MUTYH,downstream_gene_variant,,ENST00000534453,;MUTYH,downstream_gene_variant,,ENST00000525160,;MUTYH,downstream_gene_variant,,ENST00000474703,;MUTYH,upstream_gene_variant,,ENST00000485271,;	uc001cnm.2	c.1045A>T	1179/1839	2	2			c.1045A>T	Mis			colorectal		1	SNP	c.(1045-1047)ACC>TCC	41	41				0	Broad	mutY homolog isoform 1	BER_DNA_glycosylases		45797465	MUTYH-associated_polyposis	0.652	ENSG00000132781	9811	g.chr1:45797465T>A	depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding			162			162	55.886613	KEEP	8	13	-1	18	10	8	13	-1	56.114842	18	10	0.425532	1	0	0	0	0	1	0	0	0	--	--		0	A			MUTYH_uc009vxn.2_Missense_Mutation_p.T174S|MUTYH_uc001cnf.2_Missense_Mutation_p.T324S|MUTYH_uc009vxo.2_Missense_Mutation_p.T324S|MUTYH_uc001cng.2_Missense_Mutation_p.T335S|MUTYH_uc001cnj.2_Missense_Mutation_p.T232S|MUTYH_uc001cni.2_Missense_Mutation_p.T324S|MUTYH_uc001cnh.2_Missense_Mutation_p.T325S|MUTYH_uc001cno.2_Missense_Mutation_p.T232S|MUTYH_uc001cnk.2_Missense_Mutation_p.T209S|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Missense_Mutation_p.T338S|MUTYH_uc009vxp.2_Missense_Mutation_p.T352S|MUTYH_uc001cnn.2_Missense_Mutation_p.T339S	182	GBM-26-5133-TP	p.T349S	T	ACTCCCAGGGTCTGGTCCCAG	NM_012222	NP_036354	45797465	Q9UIF7	MUTYH_HUMAN	0			12	1261	-	A	A	Acute lymphoblastic leukemia(166;0.155)		Missense_Mutation	349						
MUTYH	0	broad.mit.edu	GRCh37	1	45797967	45797967	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4928-01	TCGA-76-4928-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372098.3:c.795G>A	p.Gln265=	p.Q265=	ENST00000372098		265	caG/caA	0			1			T	Q	uc001cnm.2	protein_coding	YES	CCDS520.1			795/1641	Mis			colorectal						0	c.(793-795)CAG>CAA		BER_DNA_glycosylases	Superfamily_domains:SSF48150,SMART_domains:SM00478,Gene3D:1.10.1670.10,hmmpanther:PTHR10359:SF24,hmmpanther:PTHR10359	mutY homolog isoform 1				ENSP00000361170		16-Oct									rs774248808,COSM3400837	16-Oct	.	MUTYH-associated_polyposis	ENST00000372098	Transcript	1		depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding	ENSG00000132781	g.chr1:45797967C>T	7527			LOW								--	--	1																																		MUTYH_uc009vxn.2_Silent_p.Q90Q|MUTYH_uc001cnf.2_Silent_p.Q240Q|MUTYH_uc009vxo.2_Silent_p.Q240Q|MUTYH_uc001cng.2_Silent_p.Q251Q|MUTYH_uc001cnj.2_Silent_p.Q148Q|MUTYH_uc001cni.2_Silent_p.Q240Q|MUTYH_uc001cnh.2_Silent_p.Q241Q|MUTYH_uc001cno.2_Silent_p.Q148Q|MUTYH_uc001cnk.2_Silent_p.Q125Q|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Silent_p.Q254Q|MUTYH_uc009vxp.2_Silent_p.Q268Q|MUTYH_uc001cnn.2_Silent_p.Q255Q	0,1	1			p.Q265Q	NM_012222	NP_036354			0,1	MUTYH_HUMAN	MUTYH	HGNC	Q9UIF7	MUTYH_HUMAN			E5KP26_HUMAN,Q8TDZ3_HUMAN,Q5T413_HUMAN,D3DPZ6_HUMAN		10	1011	-	Acute lymphoblastic leukemia(166;0.155)		UPI000006EB4F	265					SNV	MUTYH,synonymous_variant,p.=,ENST00000450313,NM_012222.2,NM_001128425.1;MUTYH,synonymous_variant,p.=,ENST00000372115,NM_001048171.1;MUTYH,synonymous_variant,p.=,ENST00000372098,;MUTYH,synonymous_variant,p.=,ENST00000372104,;MUTYH,synonymous_variant,p.=,ENST00000372110,;MUTYH,synonymous_variant,p.=,ENST00000372100,;MUTYH,synonymous_variant,p.=,ENST00000355498,NM_001048172.1,NM_001048173.1;MUTYH,synonymous_variant,p.=,ENST00000354383,;MUTYH,synonymous_variant,p.=,ENST00000448481,;MUTYH,synonymous_variant,p.=,ENST00000456914,NM_001048174.1;MUTYH,synonymous_variant,p.=,ENST00000528013,;MUTYH,synonymous_variant,p.=,ENST00000435155,;MUTYH,synonymous_variant,p.=,ENST00000412971,;MUTYH,intron_variant,,ENST00000528332,;MUTYH,intron_variant,,ENST00000529984,;MUTYH,intron_variant,,ENST00000488731,;MUTYH,intron_variant,,ENST00000531105,;HPDL,downstream_gene_variant,,ENST00000334815,NM_032756.2;MUTYH,downstream_gene_variant,,ENST00000483127,;MUTYH,upstream_gene_variant,,ENST00000529892,;MUTYH,synonymous_variant,p.=,ENST00000467459,;MUTYH,3_prime_UTR_variant,,ENST00000481571,;MUTYH,3_prime_UTR_variant,,ENST00000475516,;MUTYH,3_prime_UTR_variant,,ENST00000533178,;MUTYH,3_prime_UTR_variant,,ENST00000467940,;MUTYH,3_prime_UTR_variant,,ENST00000461495,;MUTYH,3_prime_UTR_variant,,ENST00000470256,;MUTYH,non_coding_transcript_exon_variant,,ENST00000462388,;MUTYH,non_coding_transcript_exon_variant,,ENST00000478796,;MUTYH,non_coding_transcript_exon_variant,,ENST00000466231,;MUTYH,downstream_gene_variant,,ENST00000483642,;MUTYH,downstream_gene_variant,,ENST00000481139,;MUTYH,downstream_gene_variant,,ENST00000492494,;MUTYH,downstream_gene_variant,,ENST00000479746,;MUTYH,downstream_gene_variant,,ENST00000476789,;MUTYH,upstream_gene_variant,,ENST00000482094,;MUTYH,downstream_gene_variant,,ENST00000462387,;MUTYH,downstream_gene_variant,,ENST00000485484,;MUTYH,downstream_gene_variant,,ENST00000534453,;MUTYH,downstream_gene_variant,,ENST00000525160,;MUTYH,downstream_gene_variant,,ENST00000474703,;MUTYH,upstream_gene_variant,,ENST00000485271,;	uc001cnm.2	c.795G>A	929/1839	1	1			c.795G>A	Mis			colorectal		1	SNP	c.(793-795)CAG>CAA	12	12				0	Broad	mutY homolog isoform 1	BER_DNA_glycosylases		45797967	MUTYH-associated_polyposis	0.597	ENSG00000132781	9811	g.chr1:45797967C>T	depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding			162			162	7.644245	KEEP	7	2	-1	30	40	7	2	-1	18.665034	30	40	0.109589	1	0	0	0	0	0	0	1	0	--	--		0	T			MUTYH_uc009vxn.2_Silent_p.Q90Q|MUTYH_uc001cnf.2_Silent_p.Q240Q|MUTYH_uc009vxo.2_Silent_p.Q240Q|MUTYH_uc001cng.2_Silent_p.Q251Q|MUTYH_uc001cnj.2_Silent_p.Q148Q|MUTYH_uc001cni.2_Silent_p.Q240Q|MUTYH_uc001cnh.2_Silent_p.Q241Q|MUTYH_uc001cno.2_Silent_p.Q148Q|MUTYH_uc001cnk.2_Silent_p.Q125Q|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Silent_p.Q254Q|MUTYH_uc009vxp.2_Silent_p.Q268Q|MUTYH_uc001cnn.2_Silent_p.Q255Q	268	GBM-76-4928-TP	p.Q265Q	C	GGTCCACCAGCTGCTGGGCTA	NM_012222	NP_036354	45797967	Q9UIF7	MUTYH_HUMAN	0			10	1011	-	T	T	Acute lymphoblastic leukemia(166;0.155)		Silent	265						
MVD	0	broad.mit.edu	GRCh37	16	88724388	88724388	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01	TCGA-14-2554-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301012.3:c.191G>A	p.Arg64Gln	p.R64Q	ENST00000301012	NM_002461.1	64	cGg/cAg	0			1			T	R/Q	uc002flg.1	protein_coding	YES	CCDS10968.1			191/1203										0	c.(190-192)CGG>CAG			Gene3D:3.30.230.10,PIRSF_domain:PIRSF015950,hmmpanther:PTHR10977,hmmpanther:PTHR10977:SF2,Superfamily_domains:SSF54211,TIGRFAM_domain:TIGR01240	diphosphomevalonate decarboxylase				ENSP00000301012		10-Mar	8.24E-06		8.64E-05						rs746569295,COSM3402539	10-Mar	.		ENST00000301012	Transcript			cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity	ENSG00000167508	g.chr16:88724388C>T	7529			MODERATE		1.36	low	getma.org/?cm=msa&ty=f&p=MVD1_HUMAN&rb=1&re=110&var=R64Q	getma.org/pdb.php?prot=MVD1_HUMAN&from=1&to=110&var=R64Q	getma.org/?cm=var&var=hg19,16,88724388,C,T&fts=all	R64Q	--	--	1																																		MVD_uc002flf.1_5'Flank	0,1	1		benign(0.007)	p.R64Q	NM_002461	NP_002452		tolerated(0.11)	0,1	MVD1_HUMAN	MVD	HGNC	P53602	MVD1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)			3	198	-			UPI000012A0C6	64					SNV	MVD,missense_variant,p.Arg64Gln,ENST00000301012,NM_002461.1;MVD,missense_variant,p.Arg64Gln,ENST00000569177,;MVD,non_coding_transcript_exon_variant,,ENST00000568709,;MVD,downstream_gene_variant,,ENST00000563463,;MVD,upstream_gene_variant,,ENST00000565720,;MVD,downstream_gene_variant,,ENST00000565842,;MVD,downstream_gene_variant,,ENST00000562741,;MVD,missense_variant,p.Arg64Gln,ENST00000568133,;MVD,3_prime_UTR_variant,,ENST00000567064,;MVD,3_prime_UTR_variant,,ENST00000565610,;MVD,non_coding_transcript_exon_variant,,ENST00000562651,;MVD,non_coding_transcript_exon_variant,,ENST00000563170,;MVD,non_coding_transcript_exon_variant,,ENST00000563785,;MVD,non_coding_transcript_exon_variant,,ENST00000566636,;MVD,upstream_gene_variant,,ENST00000565149,;MVD,upstream_gene_variant,,ENST00000562981,;MVD,upstream_gene_variant,,ENST00000561895,;	uc002flg.1	c.191G>A	221/1823	2	2			c.191G>A						16	SNP	c.(190-192)CGG>CAG	17	17				0	Broad	diphosphomevalonate decarboxylase			88724388		0.617	ENSG00000167508	9812	g.chr16:88724388C>T	cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity							126.22674	KEEP	27	20	-1	18	27	27	20	-1	126.30118	18	27	0.534247	1	0	0	0	0	1	0	0	0	--	--		0	T			MVD_uc002flf.1_5'Flank	150	GBM-14-2554-TP	p.R64Q	C	CAGCCAAATCCGGTCCTCGGT	NM_002461	NP_002452	88724388	P53602	MVD1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(80;0.0478)	3	198	-	T	T			Missense_Mutation	64						
MVK	0	broad.mit.edu	GRCh37	12	110023885	110023885	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-27-1834-01	TCGA-27-1834-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000228510.3:c.586A>G	p.Ile196Val	p.I196V	ENST00000228510	NM_001114185.1	196	Att/Gtt	0			1			G	I/V	uc001toy.3	protein_coding	YES	CCDS9132.1			586/1191										0	c.(586-588)ATT>GTT			Gene3D:3.30.230.10,Pfam_domain:PF00288,Prints_domain:PR00959,hmmpanther:PTHR10457,hmmpanther:PTHR10457:SF4,Superfamily_domains:SSF54211,TIGRFAM_domain:TIGR00549	mevalonate kinase				ENSP00000228510		11-Jun									COSM3398333	11-Jun	.		ENST00000228510	Transcript	1		cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity	ENSG00000110921	g.chr12:110023885A>G	7530			MODERATE		1.23	low	getma.org/?cm=msa&ty=f&p=KIME_HUMAN&rb=130&re=212&var=I196V	getma.org/pdb.php?prot=KIME_HUMAN&from=130&to=212&var=I196V	getma.org/?cm=var&var=hg19,12,110023885,A,G&fts=all	I196V	--	--	1																																		MVK_uc009zvk.2_Missense_Mutation_p.I196V|MVK_uc010sxr.1_Missense_Mutation_p.I144V|MVK_uc001toz.3_Missense_Mutation_p.I2V|MVK_uc001tpc.3_RNA	1	1		possibly_damaging(0.589)	p.I196V	NM_001114185	NP_001107657		deleterious(0)	1	KIME_HUMAN	MVK	HGNC	Q03426	KIME_HUMAN			F5H092_HUMAN,F5GXC0_HUMAN,B7Z1C2_HUMAN,B2RDU6_HUMAN		6	770	+			UPI000012DE5B	196					SNV	MVK,missense_variant,p.Ile196Val,ENST00000228510,NM_001114185.1,NM_000431.2;MVK,missense_variant,p.Ile144Val,ENST00000392727,;MVK,missense_variant,p.Ile144Val,ENST00000539575,;MVK,missense_variant,p.Ile2Val,ENST00000541384,;MVK,missense_variant,p.Ile196Val,ENST00000546277,;MVK,intron_variant,,ENST00000539696,;MVK,downstream_gene_variant,,ENST00000539335,;MVK,non_coding_transcript_exon_variant,,ENST00000535044,;MVK,3_prime_UTR_variant,,ENST00000447878,;MVK,3_prime_UTR_variant,,ENST00000537237,;MVK,3_prime_UTR_variant,,ENST00000545774,;MVK,non_coding_transcript_exon_variant,,ENST00000545516,;MVK,upstream_gene_variant,,ENST00000540353,;	uc001toy.3	c.586A>G	662/1952	4	4			c.586A>G						12	SNP	c.(586-588)ATT>GTT	26	26				0	Broad	mevalonate kinase			110023885		0.453	ENSG00000110921	9813	g.chr12:110023885A>G	cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity							73.874289	KEEP	12	13	-1	20	31	12	13	-1	75.173315	20	31	0.352941	1	0	0	0	0	1	0	0	0	--	--		0	G			MVK_uc009zvk.2_Missense_Mutation_p.I196V|MVK_uc010sxr.1_Missense_Mutation_p.I144V|MVK_uc001toz.3_Missense_Mutation_p.I2V|MVK_uc001tpc.3_RNA	193	GBM-27-1834-TP	p.I196V	A	GGAGAGAATGATTCACGGGAA	NM_001114185	NP_001107657	110023885	Q03426	KIME_HUMAN	0			6	770	+	G	G			Missense_Mutation	196						
MVP	0	broad.mit.edu	GRCh37	16	29855969	29855969	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2629-01	TCGA-19-2629-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357402.5:c.1790G>A	p.Arg597His	p.R597H	ENST00000357402	NM_017458.3	597	cGc/cAc	0	A:0		1			A	R/H	uc002dui.2	protein_coding	YES	CCDS10656.1			1790/2682									skin(2)|ovary(1)|central_nervous_system(1)	4	c.(1789-1791)CGC>CAC			hmmpanther:PTHR14165:SF3,hmmpanther:PTHR14165,Pfam_domain:PF11978	major vault protein			A:0.0001	ENSP00000349977		15-Nov	8.24E-06					1.50E-05			rs377434387,COSM3402255	15-Nov	.		ENST00000357402	Transcript			mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	ENSG00000013364	g.chr16:29855969G>A	7531			MODERATE		2.22	medium	getma.org/?cm=msa&ty=f&p=MVP_HUMAN&rb=519&re=647&var=R597H	getma.org/pdb.php?prot=MVP_HUMAN&from=519&to=647&var=R597H	getma.org/?cm=var&var=hg19,16,29855969,G,A&fts=all	R597H	--	--	1																																		uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc002duj.2_Missense_Mutation_p.R597H|MVP_uc010vea.1_Missense_Mutation_p.R191H	0,1	1		possibly_damaging(0.781)	p.R597H	NM_005115	NP_005106		deleterious(0)	0,1	MVP_HUMAN	MVP	HGNC	Q14764	MVP_HUMAN			H3BUK7_HUMAN,H3BRL2_HUMAN,H3BQK6_HUMAN,H3BP76_HUMAN,H3BNF2_HUMAN		11	1874	+			UPI000012FA9C	597					SNV	MVP,missense_variant,p.Arg597His,ENST00000357402,NM_017458.3,NM_005115.4;MVP,missense_variant,p.Arg597His,ENST00000395353,;MVP,downstream_gene_variant,,ENST00000452209,;MVP,downstream_gene_variant,,ENST00000563558,;MVP,downstream_gene_variant,,ENST00000570061,;MVP,downstream_gene_variant,,ENST00000566859,;MVP,downstream_gene_variant,,ENST00000568068,;MVP,downstream_gene_variant,,ENST00000569887,;	uc002dui.2	c.1790G>A	1928/2865	2	2			c.1790G>A						16	SNP	c.(1789-1791)CGC>CAC	25	25			skin(2)|ovary(1)|central_nervous_system(1)	4	Broad	major vault protein			29855969		0.617	ENSG00000013364	9814	g.chr16:29855969G>A	mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding							-40.128589	KEEP	1	3	-1	87	107	1	3	-1	6.564033	87	107	0.021858	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc002duj.2_Missense_Mutation_p.R597H|MVP_uc010vea.1_Missense_Mutation_p.R191H	166	GBM-19-2629-TP	p.R597H	G	AACTCAGCCCGCATCATTCGC	NM_005115	NP_005106	29855969	Q14764	MVP_HUMAN	0			11	1874	+	A	A			Missense_Mutation	597						
MVP	0	broad.mit.edu	GRCh37	16	29855978	29855978	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs148167046		TCGA-32-4210-01	TCGA-32-4210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357402.5:c.1799G>A	p.Arg600His	p.R600H	ENST00000357402	NM_017458.3	600	cGc/cAc	0			1			A	R/H	uc002dui.2	protein_coding	YES	CCDS10656.1			1799/2682									skin(2)|ovary(1)|central_nervous_system(1)	4	c.(1798-1800)CGC>CAC			hmmpanther:PTHR14165:SF3,hmmpanther:PTHR14165,Pfam_domain:PF11978	major vault protein				ENSP00000349977		15-Nov									COSM3402256	15-Nov	.		ENST00000357402	Transcript			mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	ENSG00000013364	g.chr16:29855978G>A	7531			MODERATE		1.94	medium	getma.org/?cm=msa&ty=f&p=MVP_HUMAN&rb=519&re=647&var=R600H	getma.org/pdb.php?prot=MVP_HUMAN&from=519&to=647&var=R600H	getma.org/?cm=var&var=hg19,16,29855978,G,A&fts=all	R600H	--	--	1																																		uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc002duj.2_Missense_Mutation_p.R600H|MVP_uc010vea.1_Missense_Mutation_p.R194H	1	1		probably_damaging(0.997)	p.R600H	NM_005115	NP_005106		deleterious(0.05)	1	MVP_HUMAN	MVP	HGNC	Q14764	MVP_HUMAN			H3BUK7_HUMAN,H3BRL2_HUMAN,H3BQK6_HUMAN,H3BP76_HUMAN,H3BNF2_HUMAN		11	1883	+			UPI000012FA9C	600					SNV	MVP,missense_variant,p.Arg600His,ENST00000357402,NM_017458.3,NM_005115.4;MVP,missense_variant,p.Arg600His,ENST00000395353,;MVP,downstream_gene_variant,,ENST00000452209,;MVP,downstream_gene_variant,,ENST00000563558,;MVP,downstream_gene_variant,,ENST00000570061,;MVP,downstream_gene_variant,,ENST00000566859,;MVP,downstream_gene_variant,,ENST00000568068,;MVP,downstream_gene_variant,,ENST00000569887,;	uc002dui.2	c.1799G>A	1937/2865	2	2			c.1799G>A						16	SNP	c.(1798-1800)CGC>CAC	20	20			skin(2)|ovary(1)|central_nervous_system(1)	4	Broad	major vault protein			29855978		0.617	ENSG00000013364	9814	g.chr16:29855978G>A	mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding							70.134113	KEEP	32	16	-1	86	107	32	16	-1	92.380462	86	107	0.172727	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc002duj.2_Missense_Mutation_p.R600H|MVP_uc010vea.1_Missense_Mutation_p.R194H	245	GBM-32-4210-TP	p.R600H	G	CGCATCATTCGCACTGCTGTC	NM_005115	NP_005106	29855978	Q14764	MVP_HUMAN	0			11	1883	+	A	A			Missense_Mutation	600						
MVP	0	broad.mit.edu	GRCh37	16	29858658	29858658	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-41-2572-01	TCGA-41-2572-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357402.5:c.2406A>G	p.Ile802Met	p.I802M	ENST00000357402	NM_017458.3	802	atA/atG	0			1			G	I/M	uc002dui.2	protein_coding	YES	CCDS10656.1			2406/2682									skin(2)|ovary(1)|central_nervous_system(1)	4	c.(2404-2406)ATA>ATG			hmmpanther:PTHR14165:SF3,hmmpanther:PTHR14165	major vault protein				ENSP00000349977		14/15									COSM3402257	14/15	.		ENST00000357402	Transcript			mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	ENSG00000013364	g.chr16:29858658A>G	7531			MODERATE		1.685	low	getma.org/?cm=msa&ty=f&p=MVP_HUMAN&rb=671&re=892&var=I802M	getma.org/pdb.php?prot=MVP_HUMAN&from=671&to=892&var=I802M	getma.org/?cm=var&var=hg19,16,29858658,A,G&fts=all	I802M	--	--	1																																		uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc002duj.2_Missense_Mutation_p.I802M|MVP_uc010vea.1_Missense_Mutation_p.I396M	1	1		benign(0.021)	p.I802M	NM_005115	NP_005106		deleterious(0.03)	1	MVP_HUMAN	MVP	HGNC	Q14764	MVP_HUMAN			H3BUK7_HUMAN,H3BRL2_HUMAN,H3BQK6_HUMAN,H3BP76_HUMAN,H3BNF2_HUMAN		14	2490	+			UPI000012FA9C	802					SNV	MVP,missense_variant,p.Ile802Met,ENST00000357402,NM_017458.3,NM_005115.4;MVP,missense_variant,p.Ile802Met,ENST00000395353,;	uc002dui.2	c.2406A>G	2544/2865	3	3			c.2406A>G						16	SNP	c.(2404-2406)ATA>ATG	54	54			skin(2)|ovary(1)|central_nervous_system(1)	4	Broad	major vault protein			29858658		0.582	ENSG00000013364	9814	g.chr16:29858658A>G	mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding							-9.042951	KEEP	1	2	-1	39	40	1	2	-1	8.627265	39	40	0.038961	1	0	0	0	0	1	0	0	0	--	--		0	G			uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc002duj.2_Missense_Mutation_p.I802M|MVP_uc010vea.1_Missense_Mutation_p.I396M	251	GBM-41-2572-TP	p.I802M	A	CAGAGGCCATAGGCCCCAGCA	NM_005115	NP_005106	29858658	Q14764	MVP_HUMAN	0			14	2490	+	G	G			Missense_Mutation	802						
MX2	4600	broad.mit.edu	GRCh37	21	42778692	42778692	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01	TCGA-06-0192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330714.3:c.1672G>A	p.Val558Met	p.V558M	ENST00000330714	NM_002463.1	558	Gtg/Atg	0			1			A	V/M	uc002yzf.1	protein_coding	YES	CCDS13672.1			1672/2148									ovary(2)	2	c.(1672-1674)GTG>ATG			Pfam_domain:PF01031,hmmpanther:PTHR11566,hmmpanther:PTHR11566:SF46	myxovirus resistance protein 2				ENSP00000333657		13/14									COSM3405397	13/14	.		ENST00000330714	Transcript			response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	ENSG00000183486	g.chr21:42778692G>A	7533			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=MX2_HUMAN&rb=307&re=601&var=V558M	getma.org/pdb.php?prot=MX2_HUMAN&from=307&to=601&var=V558M	getma.org/?cm=var&var=hg19,21,42778692,G,A&fts=all	V558M	--	--	1																																		MX2_uc002yzg.1_Missense_Mutation_p.V281M|MX2_uc010gop.1_Missense_Mutation_p.V40M	1	1		benign(0.013)	p.V558M	NM_002463	NP_002454		tolerated(0.12)	1	MX2_HUMAN	MX2	HGNC	P20592	MX2_HUMAN			Q75MY8_HUMAN,Q75MY7_HUMAN,C9JZQ9_HUMAN,C9JS04_HUMAN,C9JEL4_HUMAN		13	1776	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	UPI0000001C2D	558					SNV	MX2,missense_variant,p.Val558Met,ENST00000330714,NM_002463.1;MX2,non_coding_transcript_exon_variant,,ENST00000481838,;MX2,downstream_gene_variant,,ENST00000496774,;MX2,non_coding_transcript_exon_variant,,ENST00000482953,;MX2,non_coding_transcript_exon_variant,,ENST00000398632,;MX2,downstream_gene_variant,,ENST00000474368,;	uc002yzf.1	c.1672G>A	1856/3042	2	2			c.1672G>A						21	SNP	c.(1672-1674)GTG>ATG	28	28			ovary(2)	2	Broad	myxovirus resistance protein 2			42778692		0.343	ENSG00000183486	9816	g.chr21:42778692G>A	response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity							13.047389	KEEP	5	6	-1	52	42	5	6	-1	27.854602	52	42	0.111111	1	0	0	0	0	1	0	0	0	--	--		0	A			MX2_uc002yzg.1_Missense_Mutation_p.V281M|MX2_uc010gop.1_Missense_Mutation_p.V40M	44	GBM-06-0192-TP	p.V558M	G	AGACATAAAAGTGAAACACAC	NM_002463	NP_002454	42778692	P20592	MX2_HUMAN	0			13	1776	+	A	A		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	Missense_Mutation	558						
MX2	0	broad.mit.edu	GRCh37	21	42770891	42770891	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5958-01	TCGA-19-5958-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330714.3:c.1217G>A	p.Arg406His	p.R406H	ENST00000330714	NM_002463.1	406	cGt/cAt	0			1			A	R/H	uc002yzf.1	protein_coding	YES	CCDS13672.1			1217/2148									ovary(2)	2	c.(1216-1218)CGT>CAT			Pfam_domain:PF01031,hmmpanther:PTHR11566,hmmpanther:PTHR11566:SF46	myxovirus resistance protein 2				ENSP00000333657		14-Sep	8.24E-06							6.08E-05	rs770483469,COSM2156830	14-Sep	.		ENST00000330714	Transcript			response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	ENSG00000183486	g.chr21:42770891G>A	7533			MODERATE		1.32	low	getma.org/?cm=msa&ty=f&p=MX2_HUMAN&rb=307&re=601&var=R406H	getma.org/pdb.php?prot=MX2_HUMAN&from=307&to=601&var=R406H	getma.org/?cm=var&var=hg19,21,42770891,G,A&fts=all	R406H	--	--	1																																		MX2_uc011aer.1_RNA|MX2_uc002yzg.1_Missense_Mutation_p.R129H|MX2_uc010gop.1_5'UTR	0,1	1		benign(0.003)	p.R406H	NM_002463	NP_002454		tolerated(0.07)	0,1	MX2_HUMAN	MX2	HGNC	P20592	MX2_HUMAN			Q75MY8_HUMAN,Q75MY7_HUMAN,C9JZQ9_HUMAN,C9JS04_HUMAN,C9JEL4_HUMAN		9	1321	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	UPI0000001C2D	406					SNV	MX2,missense_variant,p.Arg406His,ENST00000330714,NM_002463.1;MX2,downstream_gene_variant,,ENST00000543692,;MX2,non_coding_transcript_exon_variant,,ENST00000496774,;MX2,upstream_gene_variant,,ENST00000481838,;MX2,non_coding_transcript_exon_variant,,ENST00000482953,;MX2,non_coding_transcript_exon_variant,,ENST00000493753,;MX2,upstream_gene_variant,,ENST00000474368,;MX2,upstream_gene_variant,,ENST00000398632,;	uc002yzf.1	c.1217G>A	1401/3042	2	2			c.1217G>A						21	SNP	c.(1216-1218)CGT>CAT	35	35			ovary(2)	2	Broad	myxovirus resistance protein 2			42770891		0.527	ENSG00000183486	9816	g.chr21:42770891G>A	response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity							129.894736	KEEP	24	32	-1	48	59	24	32	-1	133.109346	48	59	0.338129	1	0	0	0	0	1	0	0	0	--	--		0	A			MX2_uc011aer.1_RNA|MX2_uc002yzg.1_Missense_Mutation_p.R129H|MX2_uc010gop.1_5'UTR	176	GBM-19-5958-TP	p.R406H	G	GAGCTGCGGCGTTGCGGGGCT	NM_002463	NP_002454	42770891	P20592	MX2_HUMAN	0			9	1321	+	A	A		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	Missense_Mutation	406						
MXD1	0	broad.mit.edu	GRCh37	2	70164461	70164461	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-12-5295-01	TCGA-12-5295-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264444.2:c.413T>C	p.Ile138Thr	p.I138T	ENST00000264444	NM_001202513.1	138	aTt/aCt	0			1			C	I/T	uc002sfy.2	protein_coding	YES	CCDS1896.1			413/666										0	c.(412-414)ATT>ACT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11969,hmmpanther:PTHR11969:SF18	MAX dimerization protein 1				ENSP00000264444		6-May	8.24E-06	9.71E-05							rs757503254,COSM3407949	6-May	.		ENST00000264444	Transcript			cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	ENSG00000059728	g.chr2:70164461T>C	6761			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=MAD1_HUMAN&rb=110&re=221&var=I138T	NA	getma.org/?cm=var&var=hg19,2,70164461,T,C&fts=all	I138T	--	--	1																																		MXD1_uc010yqp.1_Missense_Mutation_p.I138T|MXD1_uc010yqq.1_Missense_Mutation_p.I75T|MXD1_uc010yqr.1_RNA|MXD1_uc010yqs.1_Missense_Mutation_p.I128T	0,1	1		benign(0.04)	p.I138T	NM_002357	NP_002348		tolerated(0.42)	0,1	MAD1_HUMAN	MXD1	HGNC	Q05195	MAD1_HUMAN			C9JBE8_HUMAN,B7ZLI7_HUMAN		5	673	+			UPI0000035C7D	138					SNV	MXD1,missense_variant,p.Ile138Thr,ENST00000264444,NM_001202513.1,NM_002357.3,NM_001202514.1;MXD1,missense_variant,p.Ile106Thr,ENST00000435990,;MXD1,missense_variant,p.Ile128Thr,ENST00000540449,;MXD1,upstream_gene_variant,,ENST00000465446,;MXD1,3_prime_UTR_variant,,ENST00000409442,;	uc002sfy.2	c.413T>C	673/5587	3	3			c.413T>C						2	SNP	c.(412-414)ATT>ACT	64	64				0	Broad	MAX dimerization protein 1			70164461		0.577	ENSG00000059728	9817	g.chr2:70164461T>C	cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity							110.892091	KEEP	23	16	-1	28	34	23	16	-1	111.86904	28	34	0.388889	1	0	0	0	0	1	0	0	0	--	--		0	C			MXD1_uc010yqp.1_Missense_Mutation_p.I138T|MXD1_uc010yqq.1_Missense_Mutation_p.I75T|MXD1_uc010yqr.1_RNA|MXD1_uc010yqs.1_Missense_Mutation_p.I128T	129	GBM-12-5295-TP	p.I138T	T	AAGCTGGGCATTGAGAGGATC	NM_002357	NP_002348	70164461	Q05195	MAD1_HUMAN	0			5	673	+	C	C			Missense_Mutation	138						
MXRA5	25878	broad.mit.edu	GRCh37	X	3229308	3229308	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217939.6:c.6936C>T	p.Asn2312=	p.N2312=	ENST00000217939	NM_015419.3	2312	aaC/aaT	0			1			A	N	uc004crg.3	protein_coding	YES	CCDS14124.1			6936/8487									ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8	c.(6934-6936)AAC>AAT			PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF582,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	adlican precursor				ENSP00000217939		7-Jul									COSM1467615,COSM1467616	7-Jul	.		ENST00000217939	Transcript				extracellular region		ENSG00000101825	g.chrX:3229308G>A	7539			LOW								--	--	1																																			1,1	1			p.N2312N	NM_015419	NP_056234			1,1	MXRA5_HUMAN	MXRA5	HGNC	Q9NR99	MXRA5_HUMAN					7	7093	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	UPI000013C73B	2312			Ig-like C2-type 7.		SNV	MXRA5,synonymous_variant,p.=,ENST00000217939,NM_015419.3;	uc004crg.3	c.6936C>T	7091/9793	2	2			c.6936C>T						23	SNP	c.(6934-6936)AAC>AAT	17	17			ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8	Broad	adlican precursor			3229308		0.547	ENSG00000101825	9821	g.chrX:3229308G>A		extracellular region								344.132196	KEEP	59	55	-1	18	28	59	55	-1	351.220411	18	28	0.734266	1	0	0	0	0	0	0	1	0	--	--		0	A				58	GBM-06-0644-TP	p.N2312N	G	TCCCCACTTCGTTAAAGTAGA	NM_015419	NP_056234	3229308	Q9NR99	MXRA5_HUMAN	0			7	7093	-	A	A		all_lung(23;0.00031)|Lung NSC(23;0.000946)	Silent	2312			Ig-like C2-type 7.			
MXRA5	25878	broad.mit.edu	GRCh37	X	3239887	3239887	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0745-01	TCGA-06-0745-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217939.6:c.3839G>A	p.Arg1280Lys	p.R1280K	ENST00000217939	NM_015419.3	1280	aGa/aAa	0			1			T	R/K	uc004crg.3	protein_coding	YES	CCDS14124.1			3839/8487									ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8	c.(3838-3840)AGA>AAA			hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF582	adlican precursor				ENSP00000217939		7-May									COSM2151748,COSM2151749	7-May	.		ENST00000217939	Transcript				extracellular region		ENSG00000101825	g.chrX:3239887C>T	7539			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=MXRA5_HUMAN&rb=991&re=1525&var=R1280K	NA	getma.org/?cm=var&var=hg19,X,3239887,C,T&fts=all	R1280K	--	--	1																																			1,1	1		benign(0.053)	p.R1280K	NM_015419	NP_056234		tolerated(0.29)	1,1	MXRA5_HUMAN	MXRA5	HGNC	Q9NR99	MXRA5_HUMAN					5	3996	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	UPI000013C73B	1280					SNV	MXRA5,missense_variant,p.Arg1280Lys,ENST00000217939,NM_015419.3;	uc004crg.3	c.3839G>A	3994/9793	1	1			c.3839G>A						23	SNP	c.(3838-3840)AGA>AAA	10	10			ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8	Broad	adlican precursor			3239887		0.408	ENSG00000101825	9821	g.chrX:3239887C>T		extracellular region								280.852908	KEEP	54	28	-1	18	9	54	28	-1	287.75843	18	9	0.769231	1	0	0	0	0	1	0	0	0	--	--		0	T				67	GBM-06-0745-TP	p.R1280K	C	AGAAACAGTTCTAGGCAAAAG	NM_015419	NP_056234	3239887	Q9NR99	MXRA5_HUMAN	0			5	3996	-	T	T		all_lung(23;0.00031)|Lung NSC(23;0.000946)	Missense_Mutation	1280						
MXRA5	0	broad.mit.edu	GRCh37	X	3228536	3228536	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-12-0615-01	TCGA-12-0615-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217939.6:c.7708C>A	p.Pro2570Thr	p.P2570T	ENST00000217939	NM_015419.3	2570	Ccg/Acg	0			1			T	P/T	uc004crg.3	protein_coding	YES	CCDS14124.1			7708/8487									ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8	c.(7708-7710)CCG>ACG			PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF582,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	adlican precursor				ENSP00000217939		7-Jul									COSM2153507,COSM2153508	7-Jul	.		ENST00000217939	Transcript				extracellular region		ENSG00000101825	g.chrX:3228536G>T	7539			MODERATE		3.71	high	getma.org/?cm=msa&ty=f&p=MXRA5_HUMAN&rb=2542&re=2633&var=P2570T	getma.org/pdb.php?prot=MXRA5_HUMAN&from=2542&to=2633&var=P2570T	getma.org/?cm=var&var=hg19,X,3228536,G,T&fts=all	P2570T	--	--	1																																			1,1	1		possibly_damaging(0.833)	p.P2570T	NM_015419	NP_056234		deleterious(0)	1,1	MXRA5_HUMAN	MXRA5	HGNC	Q9NR99	MXRA5_HUMAN					7	7865	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	UPI000013C73B	2570			Ig-like C2-type 10.		SNV	MXRA5,missense_variant,p.Pro2570Thr,ENST00000217939,NM_015419.3;	uc004crg.3	c.7708C>A	7863/9793	2	2			c.7708C>A						23	SNP	c.(7708-7710)CCG>ACG	35	35			ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8	Broad	adlican precursor			3228536		0.622	ENSG00000101825	9821	g.chrX:3228536G>T		extracellular region								21.710612	KEEP	9	1	0.9	15	8	9	1	0.9	22.291841	15	8	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	T				117	GBM-12-0615-TP	p.P2570T	G	CTGGGTGTCGGGGTCCCCGCG	NM_015419	NP_056234	3228536	Q9NR99	MXRA5_HUMAN	0			7	7865	-	T	T		all_lung(23;0.00031)|Lung NSC(23;0.000946)	Missense_Mutation	2570			Ig-like C2-type 10.			
MXRA5	0	broad.mit.edu	GRCh37	X	3242355	3242355	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-19-5954-01	TCGA-19-5954-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217939.6:c.1371C>A	p.Thr457=	p.T457=	ENST00000217939	NM_015419.3	457	acC/acA	0			1			T	T	uc004crg.3	protein_coding	YES	CCDS14124.1			1371/8487									ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8	c.(1369-1371)ACC>ACA			hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF582	adlican precursor				ENSP00000217939		7-May									COSM2156773,COSM2156774	7-May	.		ENST00000217939	Transcript				extracellular region		ENSG00000101825	g.chrX:3242355G>T	7539			LOW								--	--	1																																			1,1	1			p.T457T	NM_015419	NP_056234			1,1	MXRA5_HUMAN	MXRA5	HGNC	Q9NR99	MXRA5_HUMAN					5	1528	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	UPI000013C73B	457					SNV	MXRA5,synonymous_variant,p.=,ENST00000217939,NM_015419.3;	uc004crg.3	c.1371C>A	1526/9793	2	2			c.1371C>A						23	SNP	c.(1369-1371)ACC>ACA	43	43			ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8	Broad	adlican precursor			3242355		0.488	ENSG00000101825	9821	g.chrX:3242355G>T		extracellular region								215.110278	KEEP	44	39	0.530120482	48	60	44	39	0.530120482	216.215793	48	60	0.41573	1	0	0	0	0	0	0	1	0	--	--		0	T				174	GBM-19-5954-TP	p.T457T	G	GAGAATACTGGGTGTAGTAGG	NM_015419	NP_056234	3242355	Q9NR99	MXRA5_HUMAN	0			5	1528	-	T	T		all_lung(23;0.00031)|Lung NSC(23;0.000946)	Silent	457						
MXRA5	0	broad.mit.edu	GRCh37	X	3235173	3235173	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-5651-01	TCGA-41-5651-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217939.6:c.6549G>A	p.Pro2183=	p.P2183=	ENST00000217939	NM_015419.3	2183	ccG/ccA	0			1			T	P	uc004crg.3	protein_coding	YES	CCDS14124.1			6549/8487									ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8	c.(6547-6549)CCG>CCA			PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF582,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	adlican precursor				ENSP00000217939		7-Jun	8.32E-06					8.69E-05			rs775422507,COSM3406292,COSM3406293	7-Jun	.		ENST00000217939	Transcript				extracellular region		ENSG00000101825	g.chrX:3235173C>T	7539			LOW								--	--	1																																			0,1,1	1			p.P2183P	NM_015419	NP_056234			0,1,1	MXRA5_HUMAN	MXRA5	HGNC	Q9NR99	MXRA5_HUMAN					6	6706	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	UPI000013C73B	2183			Ig-like C2-type 6.		SNV	MXRA5,synonymous_variant,p.=,ENST00000217939,NM_015419.3;	uc004crg.3	c.6549G>A	6704/9793	2	2			c.6549G>A						23	SNP	c.(6547-6549)CCG>CCA	18	18			ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8	Broad	adlican precursor			3235173		0.637	ENSG00000101825	9821	g.chrX:3235173C>T		extracellular region								10.093204	KEEP	2	3	-1	7	3	2	3	-1	10.522962	7	3	0.307692	1	0	0	0	0	0	0	1	0	--	--		0	T				258	GBM-41-5651-TP	p.P2183P	C	TCCTCTTGGACGGCAGCCTCC	NM_015419	NP_056234	3235173	Q9NR99	MXRA5_HUMAN	0			6	6706	-	T	T		all_lung(23;0.00031)|Lung NSC(23;0.000946)	Silent	2183			Ig-like C2-type 6.			
MXRA5	0	broad.mit.edu	GRCh37	X	3235282	3235282	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4926-01	TCGA-76-4926-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217939.6:c.6440G>A	p.Arg2147His	p.R2147H	ENST00000217939	NM_015419.3	2147	cGc/cAc	0			1			T	R/H	uc004crg.3	protein_coding	YES	CCDS14124.1			6440/8487									ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8	c.(6439-6441)CGC>CAC			PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF582,Superfamily_domains:SSF48726	adlican precursor				ENSP00000217939		7-Jun									COSM1216003,COSM1216004	7-Jun	.		ENST00000217939	Transcript				extracellular region		ENSG00000101825	g.chrX:3235282C>T	7539			MODERATE		2.12	medium	getma.org/?cm=msa&ty=f&p=MXRA5_HUMAN&rb=2147&re=2238&var=R2147H	getma.org/pdb.php?prot=MXRA5_HUMAN&from=2147&to=2238&var=R2147H	getma.org/?cm=var&var=hg19,X,3235282,C,T&fts=all	R2147H	--	--	1																																			1,1	1		benign(0.435)	p.R2147H	NM_015419	NP_056234		deleterious(0)	1,1	MXRA5_HUMAN	MXRA5	HGNC	Q9NR99	MXRA5_HUMAN					6	6597	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	UPI000013C73B	2147			Ig-like C2-type 6.		SNV	MXRA5,missense_variant,p.Arg2147His,ENST00000217939,NM_015419.3;	uc004crg.3	c.6440G>A	6595/9793	1	1			c.6440G>A						23	SNP	c.(6439-6441)CGC>CAC	16	16			ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8	Broad	adlican precursor			3235282		0.706	ENSG00000101825	9821	g.chrX:3235282C>T		extracellular region								49.780395	KEEP	16	6	-1	7	2	16	6	-1	50.970769	7	2	0.73913	1	0	0	0	0	1	0	0	0	--	--		0	T				266	GBM-76-4926-TP	p.R2147H	C	GCCCGTGATGCGCGCGTTGGC	NM_015419	NP_056234	3235282	Q9NR99	MXRA5_HUMAN	0			6	6597	-	T	T		all_lung(23;0.00031)|Lung NSC(23;0.000946)	Missense_Mutation	2147			Ig-like C2-type 6.			
MXRA5	0	broad.mit.edu	GRCh37	X	3229254	3229254	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4929-01	TCGA-76-4929-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217939.6:c.6990C>T	p.Val2330=	p.V2330=	ENST00000217939	NM_015419.3	2330	gtC/gtT	0	A:0.0003		1			A	V	uc004crg.3	protein_coding	YES	CCDS14124.1			6990/8487									ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8	c.(6988-6990)GTC>GTT			PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF582,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	adlican precursor			A:0	ENSP00000217939		7-Jul	8.24E-06	0.000117							rs369770483,COSM3406290,COSM3406291	7-Jul	.		ENST00000217939	Transcript				extracellular region		ENSG00000101825	g.chrX:3229254G>A	7539			LOW								--	--	1																																			0,1,1	1			p.V2330V	NM_015419	NP_056234			0,1,1	MXRA5_HUMAN	MXRA5	HGNC	Q9NR99	MXRA5_HUMAN					7	7147	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	UPI000013C73B	2330			Ig-like C2-type 7.		SNV	MXRA5,synonymous_variant,p.=,ENST00000217939,NM_015419.3;	uc004crg.3	c.6990C>T	7145/9793	2	2			c.6990C>T						23	SNP	c.(6988-6990)GTC>GTT	29	29			ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8	Broad	adlican precursor			3229254		0.542	ENSG00000101825	9821	g.chrX:3229254G>A		extracellular region								297.220366	KEEP	57	71	-1	161	175	57	71	-1	315.62709	161	175	0.276699	1	0	0	0	0	0	0	1	0	--	--		0	A				269	GBM-76-4929-TP	p.V2330V	G	CGTCCTTCCCGACCTGATTTT	NM_015419	NP_056234	3229254	Q9NR99	MXRA5_HUMAN	0			7	7147	-	A	A		all_lung(23;0.00031)|Lung NSC(23;0.000946)	Silent	2330			Ig-like C2-type 7.			
MXRA5	0	broad.mit.edu	GRCh37	X	3240193	3240193	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-4935-01	TCGA-76-4935-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217939.6:c.3533A>G	p.Glu1178Gly	p.E1178G	ENST00000217939	NM_015419.3	1178	gAg/gGg	0			1			C	E/G	uc004crg.3	protein_coding	YES	CCDS14124.1			3533/8487									ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8	c.(3532-3534)GAG>GGG			hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF582	adlican precursor				ENSP00000217939		7-May									COSM3406300,COSM3406301	7-May	.		ENST00000217939	Transcript				extracellular region		ENSG00000101825	g.chrX:3240193T>C	7539			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=MXRA5_HUMAN&rb=991&re=1525&var=E1178G	NA	getma.org/?cm=var&var=hg19,X,3240193,T,C&fts=all	E1178G	--	--	1																																			1,1	1		benign(0.003)	p.E1178G	NM_015419	NP_056234		tolerated(0.23)	1,1	MXRA5_HUMAN	MXRA5	HGNC	Q9NR99	MXRA5_HUMAN					5	3690	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	UPI000013C73B	1178					SNV	MXRA5,missense_variant,p.Glu1178Gly,ENST00000217939,NM_015419.3;	uc004crg.3	c.3533A>G	3688/9793	3	3			c.3533A>G						23	SNP	c.(3532-3534)GAG>GGG	16	16			ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8	Broad	adlican precursor			3240193		0.488	ENSG00000101825	9821	g.chrX:3240193T>C		extracellular region								354.256476	KEEP	69	44	-1	94	72	69	44	-1	356.003764	94	72	0.411067	1	0	0	0	0	1	0	0	0	--	--		0	C				273	GBM-76-4935-TP	p.E1178G	T	AGAAAAAGTCTCTGATGGGGC	NM_015419	NP_056234	3240193	Q9NR99	MXRA5_HUMAN	0			5	3690	-	C	C		all_lung(23;0.00031)|Lung NSC(23;0.000946)	Missense_Mutation	1178						
MXRA5	25878		GRCh37	X	3235366	3235366	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000217939.6:c.6356G>A	p.Arg2119His	p.R2119H	ENST00000217939	NM_015419.3	2119	cGc/cAc	0																																																																																																																																																																																																																																												
MXRA5	25878		GRCh37	X	3241682	3241682	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000217939.6:c.2044C>T	p.Arg682Cys	p.R682C	ENST00000217939	NM_015419.3	682	Cgc/Tgc	0																																																																																																																																																																																																																																												
MYB	4602	broad.mit.edu	GRCh37	6	135514998	135514998	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341911.5:c.785C>T	p.Pro262Leu	p.P262L	ENST00000341911	NM_001130173.1	262	cCt/cTt	0			1			T	P/L	uc003qfc.2	protein_coding		CCDS5174.1			785/1923	T		NFIB		adenoid cystic carcinoma				lung(1)	1	c.(784-786)CCT>CTT			hmmpanther:PTHR10641,hmmpanther:PTHR10641:SF454	v-myb myeloblastosis viral oncogene homolog				ENSP00000356788		15-Jul									COSM3410605,COSM3410606	15-Jul	.		ENST00000367814	Transcript	1		blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding	ENSG00000118513	g.chr6:135514998C>T	7545			MODERATE		2.075	medium	getma.org/?cm=msa&ty=f&p=MYB_HUMAN&rb=232&re=295&var=P262L	NA	getma.org/?cm=var&var=hg19,6,135514998,C,T&fts=all	P262L	--	--	1																																		MYB_uc003qfh.2_Missense_Mutation_p.P262L|MYB_uc003qfi.2_Missense_Mutation_p.P262L|MYB_uc010kgi.2_Missense_Mutation_p.P262L|MYB_uc003qfq.2_Missense_Mutation_p.P262L|MYB_uc010kgj.2_Missense_Mutation_p.P262L|MYB_uc003qfo.2_Missense_Mutation_p.P262L|MYB_uc003qfu.2_Missense_Mutation_p.P262L|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_RNA|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_5'UTR|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_Missense_Mutation_p.P74L|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA|MYB_uc003qfb.1_Missense_Mutation_p.P262L|MYB_uc003qgd.1_Missense_Mutation_p.P74L|MYB_uc003qge.1_5'Flank	1,1			probably_damaging(0.999)	p.P262L	NM_005375	NP_005366		deleterious(0)	1,1	MYB_HUMAN	MYB	HGNC	P10242	MYB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)	Q9UMI7_HUMAN,Q708J0_HUMAN,Q708E9_HUMAN,Q708E3_HUMAN		7	984	+	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)	UPI000012FAEA	262					SNV	MYB,missense_variant,p.Pro262Leu,ENST00000341911,NM_001130173.1,NM_001161658.1,NM_001161656.1;MYB,missense_variant,p.Pro262Leu,ENST00000316528,;MYB,missense_variant,p.Pro262Leu,ENST00000442647,NM_001161660.1,NM_001130172.1;MYB,missense_variant,p.Pro262Leu,ENST00000367814,NM_001161659.1,NM_005375.2;MYB,missense_variant,p.Pro262Leu,ENST00000525369,NM_001161657.1;MYB,missense_variant,p.Pro262Leu,ENST00000527615,;MYB,missense_variant,p.Pro262Leu,ENST00000528774,;MYB,missense_variant,p.Pro262Leu,ENST00000534121,;MYB,missense_variant,p.Pro262Leu,ENST00000533624,;MYB,missense_variant,p.Pro262Leu,ENST00000534044,;MYB,missense_variant,p.Pro238Leu,ENST00000420123,;MYB,missense_variant,p.Pro216Leu,ENST00000430686,;MYB-AS1,downstream_gene_variant,,ENST00000455534,;MYB,non_coding_transcript_exon_variant,,ENST00000531845,;MYB,missense_variant,p.Pro262Leu,ENST00000367812,;MYB,missense_variant,p.Pro262Leu,ENST00000533837,;MYB,missense_variant,p.Pro262Leu,ENST00000438901,;MYB,missense_variant,p.Pro262Leu,ENST00000525477,;MYB,missense_variant,p.Pro262Leu,ENST00000463282,;MYB,missense_variant,p.Pro262Leu,ENST00000339290,;MYB,missense_variant,p.Pro262Leu,ENST00000533808,;MYB,missense_variant,p.Pro262Leu,ENST00000525514,;MYB,missense_variant,p.Pro262Leu,ENST00000529586,;MYB,missense_variant,p.Pro262Leu,ENST00000526889,;MYB,missense_variant,p.Pro262Leu,ENST00000526320,;MYB,missense_variant,p.Pro262Leu,ENST00000531519,;MYB,missense_variant,p.Pro262Leu,ENST00000533384,;MYB,missense_variant,p.Pro262Leu,ENST00000531737,;MYB,missense_variant,p.Pro262Leu,ENST00000529262,;MYB,missense_variant,p.Pro262Leu,ENST00000526565,;MYB,missense_variant,p.Pro262Leu,ENST00000528015,;MYB,missense_variant,p.Pro262Leu,ENST00000526187,;MYB,missense_variant,p.Pro262Leu,ENST00000525002,;MYB,missense_variant,p.Pro262Leu,ENST00000528343,;MYB,missense_variant,p.Pro262Leu,ENST00000528140,;MYB,missense_variant,p.Pro238Leu,ENST00000528345,;MYB,missense_variant,p.Pro262Leu,ENST00000525940,;MYB,3_prime_UTR_variant,,ENST00000531634,;MYB,3_prime_UTR_variant,,ENST00000524588,;MYB,upstream_gene_variant,,ENST00000534736,;	uc003qfc.2	c.785C>T	971/3302	2	2			c.785C>T	T		NFIB		adenoid cystic carcinoma	6	SNP	c.(784-786)CCT>CTT	48	48			lung(1)	1	Broad	v-myb myeloblastosis viral oncogene homolog			135514998		0.453	ENSG00000118513	9825	g.chr6:135514998C>T	blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			299			299	-33.049443	KEEP	2	2	-1	91	79	2	2	-1	7.859909	91	79	0.02454	1	0	0	0	0	1	0	0	0	--	--		0	T			MYB_uc003qfh.2_Missense_Mutation_p.P262L|MYB_uc003qfi.2_Missense_Mutation_p.P262L|MYB_uc010kgi.2_Missense_Mutation_p.P262L|MYB_uc003qfq.2_Missense_Mutation_p.P262L|MYB_uc010kgj.2_Missense_Mutation_p.P262L|MYB_uc003qfo.2_Missense_Mutation_p.P262L|MYB_uc003qfu.2_Missense_Mutation_p.P262L|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_RNA|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_5'UTR|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_Missense_Mutation_p.P74L|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA|MYB_uc003qfb.1_Missense_Mutation_p.P262L|MYB_uc003qgd.1_Missense_Mutation_p.P74L|MYB_uc003qge.1_5'Flank	68	GBM-06-0747-TP	p.P262L	C	GTTCCATACCCTGTAGCGTTA	NM_005375	NP_005366	135514998	P10242	MYB_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)	7	984	+	T	T	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)	Missense_Mutation	262						
MYBBP1A	10514	broad.mit.edu	GRCh37	17	4455265	4455265	+	synonymous_variant	Silent	SNP	C	C	T	rs149464957		TCGA-06-0173-01	TCGA-06-0173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381556.2:c.933G>A	p.Ala311=	p.A311=	ENST00000381556	NM_014520.3	311	gcG/gcA	0	T:0	T:0	1	T:0		T	A	uc002fyb.3	protein_coding		CCDS11046.1			933/3987									ovary(1)|skin(1)	2	c.(931-933)GCG>GCA			hmmpanther:PTHR13213:SF2,hmmpanther:PTHR13213,Pfam_domain:PF04931	MYB binding protein 1a isoform 2		T:0.001	T:0.0003	ENSP00000254718	T:0	26-Aug	3.29E-05		8.66E-05	0.000116		3.04E-05			rs149464957,COSM2150360	26-Aug	.		ENST00000254718	Transcript		T:0.0002	nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	ENSG00000132382	g.chr17:4455265C>T	7546			LOW								--	--	1																																		MYBBP1A_uc002fxz.3_Silent_p.A311A	0,1				p.A311A	NM_014520	NP_055335	T:0		0,1	MBB1A_HUMAN	MYBBP1A	HGNC	Q9BQG0	MBB1A_HUMAN					8	995	-			UPI000013CE54	311			Interaction with MYB (By similarity).		SNV	MYBBP1A,synonymous_variant,p.=,ENST00000254718,;MYBBP1A,synonymous_variant,p.=,ENST00000381556,NM_014520.3,NM_001105538.1;MYBBP1A,synonymous_variant,p.=,ENST00000573116,;GGT6,downstream_gene_variant,,ENST00000301395,NM_153338.2;MYBBP1A,upstream_gene_variant,,ENST00000573723,;MYBBP1A,downstream_gene_variant,,ENST00000570986,;MYBBP1A,upstream_gene_variant,,ENST00000573175,;	uc002fyb.3	c.933G>A	1240/4807	2	2			c.933G>A						17	SNP	c.(931-933)GCG>GCA	44	44			ovary(1)|skin(1)	2	Broad	MYB binding protein 1a isoform 2			4455265		0.632	ENSG00000132382	9826	g.chr17:4455265C>T	nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding							235.98389	KEEP	54	42	-1	34	47	54	42	-1	236.144277	34	47	0.536765	1	0	0	0	0	0	0	1	0	--	--		0	T			MYBBP1A_uc002fxz.3_Silent_p.A311A	36	GBM-06-0173-TP	p.A311A	C	GGGGCAGGGCCGCGCCCAGCA	NM_014520	NP_055335	4455265	Q9BQG0	MBB1A_HUMAN	0			8	995	-	T	T			Silent	311			Interaction with MYB (By similarity).			
MYBBP1A	0	broad.mit.edu	GRCh37	17	4449142	4449142	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C			TCGA-16-0846-01	TCGA-16-0846-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254718.4:c.1920C>G	p.Ile640Met	p.I640M	ENST00000254718		640	atC/atG	0			1			C	I/M	uc002fyb.3	protein_coding		CCDS11046.1			1920/3987									ovary(1)|skin(1)	2	c.(1918-1920)ATC>ATG			hmmpanther:PTHR13213:SF2,hmmpanther:PTHR13213,Pfam_domain:PF04931,Superfamily_domains:SSF48371	MYB binding protein 1a isoform 2				ENSP00000254718		14/26									COSM3402951	14/26	.		ENST00000254718	Transcript			nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	ENSG00000132382	g.chr17:4449142G>C	7546			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=MBB1A_HUMAN&rb=70&re=836&var=I640M	NA	getma.org/?cm=var&var=hg19,17,4449142,G,C&fts=all	I640M	--	--	1																																		MYBBP1A_uc002fxz.3_Missense_Mutation_p.I640M|MYBBP1A_uc010vsa.1_5'Flank	1			possibly_damaging(0.642)	p.I640M	NM_014520	NP_055335		tolerated(0.14)	1	MBB1A_HUMAN	MYBBP1A	HGNC	Q9BQG0	MBB1A_HUMAN					14	1982	-			UPI000013CE54	640					SNV	MYBBP1A,missense_variant,p.Ile640Met,ENST00000254718,;MYBBP1A,missense_variant,p.Ile640Met,ENST00000381556,NM_014520.3,NM_001105538.1;MYBBP1A,missense_variant,p.Ile560Met,ENST00000573116,;MYBBP1A,intron_variant,,ENST00000573723,;MYBBP1A,upstream_gene_variant,,ENST00000572759,;MYBBP1A,splice_region_variant,,ENST00000571354,;MYBBP1A,upstream_gene_variant,,ENST00000571368,;MYBBP1A,upstream_gene_variant,,ENST00000574934,;MYBBP1A,upstream_gene_variant,,ENST00000574547,;MYBBP1A,downstream_gene_variant,,ENST00000573175,;MYBBP1A,upstream_gene_variant,,ENST00000574167,;MYBBP1A,upstream_gene_variant,,ENST00000575662,;	uc002fyb.3	c.1920C>G	2227/4807	4	4			c.1920C>G						17	SNP	c.(1918-1920)ATC>ATG	33	33			ovary(1)|skin(1)	2	Broad	MYB binding protein 1a isoform 2			4449142		0.652	ENSG00000132382	9826	g.chr17:4449142G>C	nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding							40.831386	KEEP	6	8	-1	3	4	6	8	-1	41.15645	3	4	0.647059	1	0	0	0	0	1	0	0	0	--	--		0	C			MYBBP1A_uc002fxz.3_Missense_Mutation_p.I640M|MYBBP1A_uc010vsa.1_5'Flank	155	GBM-16-0846-TP	p.I640M	G	AGGACCCACCGATGGTCTTGG	NM_014520	NP_055335	4449142	Q9BQG0	MBB1A_HUMAN	0			14	1982	-	C	C			Missense_Mutation	640						
MYBL1	0	broad.mit.edu	GRCh37	8	67507922	67507922	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-87-5896-01	TCGA-87-5896-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000522677.3:c.583C>T	p.Gln195Ter	p.Q195*	ENST00000522677	NM_001080416.2	195	Caa/Taa	0			1			A	Q/*	uc003xwj.2	protein_coding	YES	CCDS47867.1			583/2259									ovary(2)|pancreas(1)	3	c.(583-585)CAA>TAA			hmmpanther:PTHR10641:SF153,hmmpanther:PTHR10641	v-myb myeloblastosis viral oncogene homolog				ENSP00000429633		16-Jun									COSM3413088	16-Jun	.		ENST00000522677	Transcript			positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	ENSG00000185697	g.chr8:67507922G>A	7547			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,8,67507922,G,A&fts=all	Q195*	--	--	1																																		MYBL1_uc003xwl.2_Nonsense_Mutation_p.Q195*|MYBL1_uc003xwk.2_Nonsense_Mutation_p.Q195*	1	1			p.Q195*	NM_001080416	NP_001073885			1	MYBA_HUMAN	MYBL1	HGNC	P10243	MYBA_HUMAN	Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)		Q6LD85_HUMAN		6	990	-			UPI000012FADE	195					SNV	MYBL1,stop_gained,p.Gln195Ter,ENST00000522677,NM_001080416.2,NM_001144755.1;MYBL1,stop_gained,p.Gln195Ter,ENST00000524176,;MYBL1,intron_variant,,ENST00000517885,;MYBL1,downstream_gene_variant,,ENST00000518079,;	uc003xwj.2	c.583C>T	994/5192	5	2			c.583C>T						8	SNP	c.(583-585)CAA>TAA	26	26			ovary(2)|pancreas(1)	3	Broad	v-myb myeloblastosis viral oncogene homolog			67507922		0.343	ENSG00000185697	9827	g.chr8:67507922G>A	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding							14.671532	KEEP	2	3	-1	3	5	2	3	-1	14.823421	3	5	0.384615	1	0	0	0	0	0	1	0	0	--	--		0	A			MYBL1_uc003xwl.2_Nonsense_Mutation_p.Q195*|MYBL1_uc003xwk.2_Nonsense_Mutation_p.Q195*	291	GBM-87-5896-TP	p.Q195*	G	ATTCCATCTTGTAAATAGCCC	NM_001080416	NP_001073885	67507922	P10243	MYBA_HUMAN	0	Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)		6	990	-	A	A			Nonsense_Mutation	195						
MYBPC3	0	broad.mit.edu	GRCh37	11	47360181	47360181	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01	TCGA-32-1970-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000545968.1:c.2198G>A	p.Arg733His	p.R733H	ENST00000545968	NM_000256.3	733	cGc/cAc	0		T:0	1	T:0		T	R/H	uc001nfa.3	protein_coding	YES	CCDS53621.1			2198/3825						uncertain_significance			ovary(2)|central_nervous_system(1)	3	c.(2197-2199)CGC>CAC			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF52,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	myosin binding protein C, cardiac		T:0		ENSP00000442795	T:0.001	23/35	3.31E-05					6.13E-05			rs534345197,COSM3397719,COSM3397718	23/35	.		ENST00000545968	Transcript	1	T:0.0002	cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	ENSG00000134571	g.chr11:47360181C>T	7551			MODERATE		-0.47	neutral	getma.org/?cm=msa&ty=f&p=MYPC3_HUMAN&rb=652&re=767&var=R732H	getma.org/pdb.php?prot=MYPC3_HUMAN&from=652&to=767&var=R732H	getma.org/?cm=var&var=hg19,11,47360181,C,T&fts=all	R732H	--	--	1																																		MYBPC3_uc010rhl.1_RNA	1,1,1	1		benign(0.007)	p.R733H	NM_000256	NP_000247	T:0	tolerated(0.99)	0,1,1	MYPC3_HUMAN	MYBPC3	HGNC	Q14896	MYPC3_HUMAN		Lung(87;0.176)	B6D426_HUMAN		22	2253	-			UPI000006EEAA	732		R -> C (in CMH4).	Ig-like C2-type 5.		SNV	MYBPC3,missense_variant,p.Arg733His,ENST00000399249,;MYBPC3,missense_variant,p.Arg733His,ENST00000545968,NM_000256.3;MYBPC3,missense_variant,p.Arg732His,ENST00000256993,;MYBPC3,missense_variant,p.Arg733His,ENST00000544791,;	uc001nfa.3	c.2198G>A	2253/4217	2	2			c.2198G>A						11	SNP	c.(2197-2199)CGC>CAC	47	47			ovary(2)|central_nervous_system(1)	3	Broad	myosin binding protein C, cardiac			47360181		0.632	ENSG00000134571	9831	g.chr11:47360181C>T	cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding							68.520008	KEEP	14	12	-1	10	19	14	12	-1	68.670327	10	19	0.442308	1	0	0	0	0	1	0	0	0	--	--		0	T			MYBPC3_uc010rhl.1_RNA	228	GBM-32-1970-TP	p.R733H	C	GAAGATGCTGCGGTCCTTGGT	NM_000256	NP_000247	47360181	Q14896	MYPC3_HUMAN	0		Lung(87;0.176)	22	2253	-	T	T			Missense_Mutation	732		R -> C (in CMH4).	Ig-like C2-type 5.			
MYC	4609		GRCh37	8	128750605	128750607	+	inframe_deletion	In_Frame_Del	DEL	CAG	CAG	-			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000377970.2:c.154_156del	p.Gln52del	p.Q52del	ENST00000377970	NM_002467.4	48	CAG/-	0																																																																																																																																																																																																																																												
MYCT1	80177	broad.mit.edu	GRCh37	6	153043291	153043291	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367245.5:c.611G>A	p.Arg204His	p.R204H	ENST00000367245	NM_025107.2	204	cGt/cAt	0	A:0.0007		1			A	R/H	uc003qpd.3	protein_coding	YES	CCDS5239.1			611/708									ovary(1)	1	c.(610-612)CGT>CAT			Pfam_domain:PF15179,hmmpanther:PTHR14869	myc target 1			A:0	ENSP00000356214		2-Feb	5.77E-05	0.000384				1.50E-05		0.000121	rs375330501,COSM1131997	2-Feb	.		ENST00000367245	Transcript				nucleus		ENSG00000120279	g.chr6:153043291G>A	23172			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=MYCT1_HUMAN&rb=67&re=233&var=R204H	NA	getma.org/?cm=var&var=hg19,6,153043291,G,A&fts=all	R204H	--	--	1																																		MYCT1_uc010kjc.1_Missense_Mutation_p.R156H|MYCT1_uc003qpc.3_Missense_Mutation_p.R204H	0,1	1		probably_damaging(0.949)	p.R204H	NM_025107	NP_079383		deleterious(0.02)	0,1	MYCT1_HUMAN	MYCT1	HGNC	Q8N699	MYCT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)	D6Q1S4_HUMAN		2	619	+		Ovarian(120;0.0654)	UPI0000073EDB	204					SNV	MYCT1,missense_variant,p.Arg204His,ENST00000367245,NM_025107.2;MYCT1,missense_variant,p.Arg185His,ENST00000532295,;MYCT1,intron_variant,,ENST00000529453,;	uc003qpd.3	c.611G>A	619/3030	1	1			c.611G>A						6	SNP	c.(610-612)CGT>CAT	63	63			ovary(1)	1	Broad	myc target 1			153043291		0.532	ENSG00000120279	9840	g.chr6:153043291G>A		nucleus								175.728636	KEEP	35	29	-1	37	47	35	29	-1	176.493253	37	47	0.42029	1	0	0	0	0	1	0	0	0	--	--		0	A			MYCT1_uc010kjc.1_Missense_Mutation_p.R156H|MYCT1_uc003qpc.3_Missense_Mutation_p.R204H	23	GBM-06-0145-TP	p.R204H	G	AGTCTGAGCCGTCCTGACTAC	NM_025107	NP_079383	153043291	Q8N699	MYCT1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)	2	619	+	A	A		Ovarian(120;0.0654)	Missense_Mutation	204						
MYEOV	0	broad.mit.edu	GRCh37	11	69063304	69063304	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-12-0618-01	TCGA-12-0618-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308946.3:c.387C>A	p.Asp129Glu	p.D129E	ENST00000308946	NM_138768.2	129	gaC/gaA	0			1			A	D/E	uc001oov.2	protein_coding	YES	CCDS8190.1			387/942										0	c.(385-387)GAC>GAA				myeloma overexpressed				ENSP00000308330		3-Mar									COSM3398090	3-Mar	.		ENST00000308946	Transcript						ENSG00000172927	g.chr11:69063304C>A	7563			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=MYEOV_HUMAN&rb=1&re=219&var=D129E	NA	getma.org/?cm=var&var=hg19,11,69063304,C,A&fts=all	D129E	--	--	1																																		MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Missense_Mutation_p.D129E|MYEOV_uc001oow.2_Missense_Mutation_p.D71E	1	1		probably_damaging(0.923)	p.D129E	NM_138768	NP_620123		deleterious_low_confidence(0)	1	MYEOV_HUMAN	MYEOV	HGNC	Q96EZ4	MYEOV_HUMAN	LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)	F5H0B3_HUMAN		3	837	+	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		UPI0000039DE8	129					SNV	MYEOV,missense_variant,p.Asp71Glu,ENST00000535407,;MYEOV,missense_variant,p.Asp129Glu,ENST00000308946,NM_138768.2;MYEOV,missense_variant,p.Asp129Glu,ENST00000441339,;MYEOV,non_coding_transcript_exon_variant,,ENST00000539691,;MYEOV,intron_variant,,ENST00000544008,;MYEOV,intron_variant,,ENST00000535597,;MYEOV,downstream_gene_variant,,ENST00000540760,;MYEOV,non_coding_transcript_exon_variant,,ENST00000535653,;MYEOV,upstream_gene_variant,,ENST00000544781,;	uc001oov.2	c.387C>A	837/2287	2	2			c.387C>A						11	SNP	c.(385-387)GAC>GAA	30	30				0	Broad	myeloma overexpressed			69063304		0.617	ENSG00000172927	9843	g.chr11:69063304C>A										-43.723559	KEEP	5	3	0.375	108	162	5	3	0.375	17.294991	108	162	0.031496	1	0	0	0	0	1	0	0	0	--	--		0	A			MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Missense_Mutation_p.D129E|MYEOV_uc001oow.2_Missense_Mutation_p.D71E	119	GBM-12-0618-TP	p.D129E	C	AAGACGTGGACGTGTCCCGGG	NM_138768	NP_620123	69063304	Q96EZ4	MYEOV_HUMAN	0	LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)	3	837	+	A	A	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		Missense_Mutation	129						
MYEOV2	0	broad.mit.edu	GRCh37	2	241069334	241069334	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307266.3:c.375G>A	p.Ser125=	p.S125=	ENST00000307266	NM_138336.1	125	tcG/tcA	0		T:0.0008	1	T:0		T		uc002vyu.1	protein_coding		CCDS63183.1			-/174										0	c.(373-375)TCG>TCA	909			hypothetical protein LOC150678 isoform 1		T:0		ENSP00000475979	T:0		2.47E-05	9.68E-05				3.02E-05			rs551865042,COSM3407737		.		ENST00000607357	Transcript		T:0.0002				ENSG00000172428	g.chr2:241069334C>T	21314			MODIFIER								--	--	1																																			0,1				p.S125S	NM_138336	NP_612209	T:0		0,1	MYOV2_HUMAN	MYEOV2	HGNC	Q8WXC6	MYOV2_HUMAN		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)			4	375	-		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	UPI0000071BBF	Error:Variant_position_missing_in_Q8WXC6_after_alignment					SNV	MYEOV2,synonymous_variant,p.=,ENST00000307266,NM_138336.1;MYEOV2,downstream_gene_variant,,ENST00000403160,;MYEOV2,downstream_gene_variant,,ENST00000607357,NM_001163424.1;MYEOV2,downstream_gene_variant,,ENST00000489698,;MYEOV2,downstream_gene_variant,,ENST00000491765,;	uc002vyu.1	c.375G>A	-/418	1	1			c.375G>A						2	SNP	c.(373-375)TCG>TCA	6	6				0	Broad	hypothetical protein LOC150678 isoform 1			241069334		0.617	ENSG00000172428	9844	g.chr2:241069334C>T										6.172348	KEEP	3	5	-1	28	45	3	5	-1	17.106583	28	45	0.101449	1	0	0	0	0	0	0	1	0	--	--		0	T				160	GBM-19-1790-TP	p.S125S	C	TTACCTCTTCCGACACCACAG	NM_138336	NP_612209	241069334	Q8WXC6	MYOV2_HUMAN	0		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)	4	375	-	T	T		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	Silent	Error:Variant_position_missing_in_Q8WXC6_after_alignment						
MYEOV2	0	broad.mit.edu	GRCh37	2	241066064	241066064	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-19-1790-01	TCGA-19-1790-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307266.3:c.675del	p.Lys225AsnfsTer25	p.K225Nfs*25	ENST00000307266	NM_138336.1	225	aaA/aa	0			1			-		uc002vyu.1	protein_coding		CCDS63183.1			-/174										0	c.(673-675)AAAfs	4179			hypothetical protein LOC150678 isoform 1				ENSP00000475979													.		ENST00000607357	Transcript						ENSG00000172428	g.chr2:241066064delT	21314			MODIFIER								--	--	1																																							p.K225fs	NM_138336	NP_612209				MYOV2_HUMAN	MYEOV2	HGNC	Q8WXC6	MYOV2_HUMAN		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)			5	675	-		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	UPI0000071BBF	Error:Variant_position_missing_in_Q8WXC6_after_alignment					deletion	MYEOV2,frameshift_variant,p.Lys225AsnfsTer25,ENST00000307266,NM_138336.1;MYEOV2,downstream_gene_variant,,ENST00000607357,NM_001163424.1;AC013469.1,downstream_gene_variant,,ENST00000593909,;MYEOV2,downstream_gene_variant,,ENST00000489698,;MYEOV2,downstream_gene_variant,,ENST00000491765,;	uc002vyu.1	c.675delA	-/418	5	5			c.675delA						2	DEL	c.(673-675)AAAfs	50	50				0	Broad	hypothetical protein LOC150678 isoform 1			241066064		0.488	ENSG00000172428	9844	g.chr2:241066064delT																							0.08	1	1	0	1	0	0	0	0	0	--	--		0	-				160	GBM-19-1790-TP	p.K225fs	T	TCTTAAAACATTTACCCCTCC	NM_138336	NP_612209	241066064	Q8WXC6	MYOV2_HUMAN	0		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)	5	675	-	-	-		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	Frame_Shift_Del	Error:Variant_position_missing_in_Q8WXC6_after_alignment						
MYF5	0	broad.mit.edu	GRCh37	12	81110965	81110965	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6391-01	TCGA-06-6391-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000228644.3:c.123G>A	p.Ala41=	p.A41=	ENST00000228644	NM_005593.2	41	gcG/gcA	0			1			A	A	uc001szg.2	protein_coding	YES	CCDS9020.1			123/768									ovary(1)	1	c.(121-123)GCG>GCA			hmmpanther:PTHR11534,hmmpanther:PTHR11534:SF3,Pfam_domain:PF01586,SMART_domains:SM00520	myogenic factor 5				ENSP00000228644		3-Jan										3-Jan	.		ENST00000228644	Transcript			muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	ENSG00000111049	g.chr12:81110965G>A	7565			LOW								--	--	1																																				1			p.A41A	NM_005593	NP_005584				MYF5_HUMAN	MYF5	HGNC	P13349	MYF5_HUMAN					1	258	+			UPI000013C8D9	41					SNV	MYF5,synonymous_variant,p.=,ENST00000228644,NM_005593.2;	uc001szg.2	c.123G>A	275/1542	2	2			c.123G>A						12	SNP	c.(121-123)GCG>GCA	42	42			ovary(1)	1	Broad	myogenic factor 5			81110965		0.617	ENSG00000111049	9845	g.chr12:81110965G>A	muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity							-7.018836	KEEP	3	2	-1	29	34	3	2	-1	6.41847	29	34	0.048387	1	0	0	0	0	0	0	1	0	--	--		0	A				107	GBM-06-6391-TP	p.A41A	G	CCTTCGGAGCGCACAAAGCAG	NM_005593	NP_005584	81110965	P13349	MYF5_HUMAN	0			1	258	+	A	A			Silent	41						
MYF5	0	broad.mit.edu	GRCh37	12	81111227	81111227	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01	TCGA-41-3393-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000228644.3:c.385C>T	p.Arg129Cys	p.R129C	ENST00000228644	NM_005593.2	129	Cgc/Tgc	0			1			T	R/C	uc001szg.2	protein_coding	YES	CCDS9020.1			385/768									ovary(1)	1	c.(385-387)CGC>TGC			Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50888,hmmpanther:PTHR11534,hmmpanther:PTHR11534:SF3,Pfam_domain:PF00010,Gene3D:4.10.280.10,SMART_domains:SM00353,Superfamily_domains:SSF47459	myogenic factor 5				ENSP00000228644		3-Jan									COSM695677	3-Jan	.		ENST00000228644	Transcript			muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	ENSG00000111049	g.chr12:81111227C>T	7565			MODERATE		1.11	low	getma.org/?cm=msa&ty=f&p=MYF5_HUMAN&rb=84&re=135&var=R129C	getma.org/pdb.php?prot=MYF5_HUMAN&from=84&to=135&var=R129C	getma.org/?cm=var&var=hg19,12,81111227,C,T&fts=all	R129C	--	--	1																																			1	1		probably_damaging(0.939)	p.R129C	NM_005593	NP_005584		deleterious(0.02)	1	MYF5_HUMAN	MYF5	HGNC	P13349	MYF5_HUMAN					1	520	+			UPI000013C8D9	129			Helix-loop-helix motif.		SNV	MYF5,missense_variant,p.Arg129Cys,ENST00000228644,NM_005593.2;	uc001szg.2	c.385C>T	537/1542	1	1			c.385C>T						12	SNP	c.(385-387)CGC>TGC	1	1			ovary(1)	1	Broad	myogenic factor 5			81111227		0.587	ENSG00000111049	9845	g.chr12:81111227C>T	muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity							182.724909	KEEP	35	34	-1	90	106	35	34	-1	192.934808	90	106	0.281513	1	0	0	0	0	1	0	0	0	--	--		0	T				255	GBM-41-3393-TP	p.R129C	C	GAATGCCATCCGCTACATCGA	NM_005593	NP_005584	81111227	P13349	MYF5_HUMAN	0			1	520	+	T	T			Missense_Mutation	129			Helix-loop-helix motif.			
MYF6	0	broad.mit.edu	GRCh37	12	81101567	81101567	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-1825-01	TCGA-14-1825-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000228641.3:c.69G>A	p.Gln23=	p.Q23=	ENST00000228641	NM_002469.2	23	caG/caA	0			1			A	Q	uc001szf.1	protein_coding	YES	CCDS9019.1			69/729									central_nervous_system(1)	1	c.(67-69)CAG>CAA			hmmpanther:PTHR11534,hmmpanther:PTHR11534:SF4,Pfam_domain:PF01586,SMART_domains:SM00520	myogenic factor 6				ENSP00000228641		3-Jan									COSM3399130	3-Jan	.		ENST00000228641	Transcript	1		muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	ENSG00000111046	g.chr12:81101567G>A	7566			LOW								--	--	1																																			1	1			p.Q23Q	NM_002469	NP_002460			1	MYF6_HUMAN	MYF6	HGNC	P23409	MYF6_HUMAN					1	122	+			UPI0000001050	23					SNV	MYF6,synonymous_variant,p.=,ENST00000228641,NM_002469.2;	uc001szf.1	c.69G>A	291/1465	1	1			c.69G>A						12	SNP	c.(67-69)CAG>CAA	50	50			central_nervous_system(1)	1	Broad	myogenic factor 6			81101567		0.517	ENSG00000111046	9846	g.chr12:81101567G>A	muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity							112.058304	KEEP	28	19	-1	33	32	28	19	-1	112.369275	33	32	0.435294	1	0	0	0	0	0	0	1	0	--	--		0	A				148	GBM-14-1825-TP	p.Q23Q	G	TTACTCTGCAGCCATTAGAAG	NM_002469	NP_002460	81101567	P23409	MYF6_HUMAN	0			1	122	+	A	A			Silent	23						
MYH1	4619	broad.mit.edu	GRCh37	17	10415407	10415407	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0166-01	TCGA-06-0166-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000226207.5:c.1250G>T	p.Gly417Val	p.G417V	ENST00000226207	NM_005963.3	417	gGt/gTt	0			1			A	G/V	uc002gmo.2	protein_coding	YES	CCDS11155.1			1250/5820									ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21	c.(1249-1251)GGT>GTT			Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF264,SMART_domains:SM00242,Superfamily_domains:SSF52540	myosin, heavy chain 1, skeletal muscle, adult				ENSP00000226207		13/40									COSM3402591	13/40	.		ENST00000226207	Transcript				muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	ENSG00000109061	g.chr17:10415407C>A	7567			MODERATE		2.59	medium	getma.org/?cm=msa&ty=f&p=MYH1_HUMAN&rb=88&re=770&var=G417V	getma.org/pdb.php?prot=MYH1_HUMAN&from=88&to=770&var=G417V	getma.org/?cm=var&var=hg19,17,10415407,C,A&fts=all	G417V	--	--	1																																		uc002gml.1_Intron	1	1		probably_damaging(0.99)	p.G417V	NM_005963	NP_005954		deleterious(0)	1	MYH1_HUMAN	MYH1	HGNC	P12882	MYH1_HUMAN					13	1344	-			UPI000013C891	417			Myosin head-like.		SNV	MYH1,missense_variant,p.Gly417Val,ENST00000226207,NM_005963.3;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	uc002gmo.2	c.1250G>T	1345/6024	1	1			c.1250G>T						17	SNP	c.(1249-1251)GGT>GTT	49	49			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21	Broad	myosin, heavy chain 1, skeletal muscle, adult			10415407		0.463	ENSG00000109061	9847	g.chr17:10415407C>A		muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			585			585	0.690126	KEEP	25	20	0.444444444	263	284	25	20	0.444444444	92.507714	263	284	0.080235	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002gml.1_Intron	31	GBM-06-0166-TP	p.G417V	C	CACAGTTTGACCTTTGGTGAC	NM_005963	NP_005954	10415407	P12882	MYH1_HUMAN	0			13	1344	-	A	A			Missense_Mutation	417			Myosin head-like.			
MYH1	0	broad.mit.edu	GRCh37	17	10404048	10404048	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-08-0386-01	TCGA-08-0386-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000226207.5:c.3760C>T	p.Arg1254Cys	p.R1254C	ENST00000226207	NM_005963.3	1254	Cgc/Tgc	0			1			A	R/C	uc002gmo.2	protein_coding	YES	CCDS11155.1			3760/5820									ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21	c.(3760-3762)CGC>TGC			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF264,Superfamily_domains:SSF90257	myosin, heavy chain 1, skeletal muscle, adult				ENSP00000226207		28/40									COSM3402587	28/40	.		ENST00000226207	Transcript				muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	ENSG00000109061	g.chr17:10404048G>A	7567			MODERATE		3.785	high	getma.org/?cm=msa&ty=f&p=MYH1_HUMAN&rb=1072&re=1930&var=R1254C	NA	getma.org/?cm=var&var=hg19,17,10404048,G,A&fts=all	R1254C	--	--	1																																		uc002gml.1_Intron	1	1		benign(0.029)	p.R1254C	NM_005963	NP_005954		deleterious(0)	1	MYH1_HUMAN	MYH1	HGNC	P12882	MYH1_HUMAN					28	3854	-			UPI000013C891	1254			Potential.		SNV	MYH1,missense_variant,p.Arg1254Cys,ENST00000226207,NM_005963.3;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	uc002gmo.2	c.3760C>T	3855/6024	2	2			c.3760C>T						17	SNP	c.(3760-3762)CGC>TGC	36	36			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21	Broad	myosin, heavy chain 1, skeletal muscle, adult			10404048		0.448	ENSG00000109061	9847	g.chr17:10404048G>A		muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			585			585	22.725301	KEEP	6	14	-1	64	73	6	14	-1	40.806119	64	73	0.123077	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002gml.1_Intron	116	GBM-08-0386-TP	p.R1254C	G	TCTAGAGCGCGGCACATCTTT	NM_005963	NP_005954	10404048	P12882	MYH1_HUMAN	0			28	3854	-	A	A			Missense_Mutation	1254			Potential.			
MYH1	0	broad.mit.edu	GRCh37	17	10419368	10419368	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-19-1390-01	TCGA-19-1390-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000226207.5:c.380A>T	p.Asn127Ile	p.N127I	ENST00000226207	NM_005963.3	127	aAc/aTc	0			1			A	N/I	uc002gmo.2	protein_coding	YES	CCDS11155.1			380/5820									ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21	c.(379-381)AAC>ATC			Pfam_domain:PF00063,Prints_domain:PR00193,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF264,SMART_domains:SM00242,Superfamily_domains:SSF52540	myosin, heavy chain 1, skeletal muscle, adult				ENSP00000226207		May-40									COSM3402592	May-40	.		ENST00000226207	Transcript				muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	ENSG00000109061	g.chr17:10419368T>A	7567			MODERATE		5.02	high	getma.org/?cm=msa&ty=f&p=MYH1_HUMAN&rb=88&re=770&var=N127I	getma.org/pdb.php?prot=MYH1_HUMAN&from=88&to=770&var=N127I	getma.org/?cm=var&var=hg19,17,10419368,T,A&fts=all	N127I	--	--	1																																		uc002gml.1_Intron	1	1		probably_damaging(0.948)	p.N127I	NM_005963	NP_005954		deleterious(0)	1	MYH1_HUMAN	MYH1	HGNC	P12882	MYH1_HUMAN					5	474	-			UPI000013C891	127			Myosin head-like.		SNV	MYH1,missense_variant,p.Asn127Ile,ENST00000226207,NM_005963.3;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	uc002gmo.2	c.380A>T	475/6024	2	2			c.380A>T						17	SNP	c.(379-381)AAC>ATC	35	35			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21	Broad	myosin, heavy chain 1, skeletal muscle, adult			10419368		0.488	ENSG00000109061	9847	g.chr17:10419368T>A		muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			585			585	301.516954	KEEP	49	50	-1	27	24	49	50	-1	305.604432	27	24	0.683824	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002gml.1_Intron	159	GBM-19-1390-TP	p.N127I	T	CTTGTAGGGGTTGACAGTGAC	NM_005963	NP_005954	10419368	P12882	MYH1_HUMAN	0			5	474	-	A	A			Missense_Mutation	127			Myosin head-like.			
MYH1	0	broad.mit.edu	GRCh37	17	10395868	10395868	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-19-2629-01	TCGA-19-2629-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000226207.5:c.5685C>A	p.Val1895=	p.V1895=	ENST00000226207	NM_005963.3	1895	gtC/gtA	0			1			T	V	uc002gmo.2	protein_coding	YES	CCDS11155.1			5685/5820									ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21	c.(5683-5685)GTC>GTA			Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF264,Superfamily_domains:SSF57997	myosin, heavy chain 1, skeletal muscle, adult				ENSP00000226207		40/40									COSM2156357	40/40	.		ENST00000226207	Transcript				muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	ENSG00000109061	g.chr17:10395868G>T	7567			LOW								--	--	1																																		uc002gml.1_Intron	1	1			p.V1895V	NM_005963	NP_005954			1	MYH1_HUMAN	MYH1	HGNC	P12882	MYH1_HUMAN					40	5779	-			UPI000013C891	1895			Potential.		SNV	MYH1,synonymous_variant,p.=,ENST00000226207,NM_005963.3;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	uc002gmo.2	c.5685C>A	5780/6024	2	2			c.5685C>A						17	SNP	c.(5683-5685)GTC>GTA	35	35			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21	Broad	myosin, heavy chain 1, skeletal muscle, adult			10395868		0.473	ENSG00000109061	9847	g.chr17:10395868G>T		muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			585			585	168.996169	KEEP	35	30	0.538461538	59	62	35	30	0.538461538	172.162562	59	62	0.356322	1	0	0	0	0	0	0	1	0	--	--		0	T			uc002gml.1_Intron	166	GBM-19-2629-TP	p.V1895V	G	TGGAGAGGTTGACGTTGGATT	NM_005963	NP_005954	10395868	P12882	MYH1_HUMAN	0			40	5779	-	T	T			Silent	1895			Potential.			
MYH1	0	broad.mit.edu	GRCh37	17	10408543	10408543	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01	TCGA-41-2572-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000226207.5:c.2372G>A	p.Arg791Gln	p.R791Q	ENST00000226207	NM_005963.3	791	cGa/cAa	0			1			T	R/Q	uc002gmo.2	protein_coding	YES	CCDS11155.1			2372/5820									ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21	c.(2371-2373)CGA>CAA			Gene3D:1wdcA00,PROSITE_profiles:PS50096,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF264,SMART_domains:SM00015,Superfamily_domains:SSF52540	myosin, heavy chain 1, skeletal muscle, adult				ENSP00000226207		21/40	1.65E-05		8.64E-05			1.50E-05			rs780763560,COSM3402589	21/40	.		ENST00000226207	Transcript				muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	ENSG00000109061	g.chr17:10408543C>T	7567			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=MYH1_HUMAN&rb=785&re=814&var=R791Q	getma.org/pdb.php?prot=MYH1_HUMAN&from=785&to=814&var=R791Q	getma.org/?cm=var&var=hg19,17,10408543,C,T&fts=all	R791Q	--	--	1																																		uc002gml.1_Intron	0,1	1		benign(0.252)	p.R791Q	NM_005963	NP_005954		tolerated(0.12)	0,1	MYH1_HUMAN	MYH1	HGNC	P12882	MYH1_HUMAN					21	2466	-			UPI000013C891	791			IQ.		SNV	MYH1,missense_variant,p.Arg791Gln,ENST00000226207,NM_005963.3;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	uc002gmo.2	c.2372G>A	2467/6024	2	2			c.2372G>A						17	SNP	c.(2371-2373)CGA>CAA	29	29			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21	Broad	myosin, heavy chain 1, skeletal muscle, adult			10408543		0.458	ENSG00000109061	9847	g.chr17:10408543C>T		muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			585			585	217.684105	KEEP	36	49	-1	61	72	36	49	-1	219.112324	61	72	0.407407	1	0	0	0	0	1	0	0	0	--	--		0	T			uc002gml.1_Intron	251	GBM-41-2572-TP	p.R791Q	C	GGCCTGGGTTCGGGTAATCAG	NM_005963	NP_005954	10408543	P12882	MYH1_HUMAN	0			21	2466	-	T	T			Missense_Mutation	791			IQ.			
MYH1	4619		GRCh37	17	10398535	10398535	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000226207.5:c.5269G>C	p.Glu1757Gln	p.E1757Q	ENST00000226207	NM_005963.3	1757	Gag/Cag	0																																																																																																																																																																																																																																												
MYH11	4629	broad.mit.edu	GRCh37	16	15835524	15835524	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396324.3:c.2676G>A		p.X892_splice	ENST00000396324	NM_001040114.1	892	ctG/ctA	0			1			T	L	uc002ddy.2	protein_coding		CCDS10565.1			2655/5919	T		CBFB		AML				ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15	c.(2653-2655)CTG>CTA			Gene3D:1.20.5.340,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF335,Superfamily_domains:SSF90257	smooth muscle myosin heavy chain 11 isoform				ENSP00000300036		22/41	1.65E-05							0.000121	rs760141485,COSM2149355,COSM2149354	22/41	.		ENST00000300036	Transcript	1		axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	ENSG00000133392	g.chr16:15835524C>T	7569			LOW								--	--	1																																		MYH11_uc002ddv.2_Silent_p.L892L|MYH11_uc002ddw.2_Silent_p.L885L|MYH11_uc002ddx.2_Silent_p.L892L|MYH11_uc010bvg.2_Silent_p.L717L	0,1,1				p.L885L	NM_002474	NP_002465			0,1,1	MYH11_HUMAN	MYH11	HGNC	P35749	MYH11_HUMAN			Q68D89_HUMAN,Q66K75_HUMAN		22	2762	-			UPI000012FB86	885			Potential.		SNV	MYH11,splice_region_variant,p.=,ENST00000452625,NM_001040113.1;MYH11,splice_region_variant,p.=,ENST00000396324,NM_001040114.1;MYH11,splice_region_variant,p.=,ENST00000576790,NM_022844.2;MYH11,splice_region_variant,p.=,ENST00000300036,NM_002474.2;AF001548.6,splice_region_variant,,ENST00000577048,;MYH11,splice_region_variant,,ENST00000574119,;	uc002ddy.2	c.2655G>A	2765/6029	2	2			c.2655G>A	T		CBFB		AML	16	SNP	c.(2653-2655)CTG>CTA	45	45			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15	Broad	smooth muscle myosin heavy chain 11 isoform			15835524		0.637	ENSG00000133392	9849	g.chr16:15835524C>T	axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			1257			1257	196.93978	KEEP	40	33	-1	51	56	40	33	-1	198.355167	51	56	0.402367	1	0	0	0	0	0	0	1	0	--	--		0	T			MYH11_uc002ddv.2_Silent_p.L892L|MYH11_uc002ddw.2_Silent_p.L885L|MYH11_uc002ddx.2_Silent_p.L892L|MYH11_uc010bvg.2_Silent_p.L717L	12	GBM-06-0125-TP	p.L885L	C	TCTCCTCGGTCAGCTGCACGC	NM_002474	NP_002465	15835524	P35749	MYH11_HUMAN	0			22	2762	-	T	T			Silent	885			Potential.			
MYH11	4629	broad.mit.edu	GRCh37	16	15844112	15844112	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396324.3:c.1962G>A	p.Lys654=	p.K654=	ENST00000396324	NM_001040114.1	654	aaG/aaA	0			1			T	K	uc002ddy.2	protein_coding		CCDS10565.1			1941/5919	T		CBFB		AML				ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15	c.(1939-1941)AAG>AAA			Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF335,SMART_domains:SM00242,Superfamily_domains:SSF52540	smooth muscle myosin heavy chain 11 isoform				ENSP00000300036		16/41									COSM2149719,COSM2149718	16/41	.		ENST00000300036	Transcript	1		axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	ENSG00000133392	g.chr16:15844112C>T	7569			LOW								--	--	1																																		MYH11_uc002ddv.2_Silent_p.K654K|MYH11_uc002ddw.2_Silent_p.K647K|MYH11_uc002ddx.2_Silent_p.K654K|MYH11_uc010bvg.2_Silent_p.K479K|MYH11_uc002dea.1_Silent_p.K353K	1,1				p.K647K	NM_002474	NP_002465			1,1	MYH11_HUMAN	MYH11	HGNC	P35749	MYH11_HUMAN			Q68D89_HUMAN,Q66K75_HUMAN		16	2048	-			UPI000012FB86	647			Myosin head-like.		SNV	MYH11,synonymous_variant,p.=,ENST00000452625,NM_001040113.1;MYH11,synonymous_variant,p.=,ENST00000396324,NM_001040114.1;MYH11,synonymous_variant,p.=,ENST00000576790,NM_022844.2;MYH11,synonymous_variant,p.=,ENST00000300036,NM_002474.2;MYH11,non_coding_transcript_exon_variant,,ENST00000570785,;	uc002ddy.2	c.1941G>A	2051/6029	1	1			c.1941G>A	T		CBFB		AML	16	SNP	c.(1939-1941)AAG>AAA	10	10			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15	Broad	smooth muscle myosin heavy chain 11 isoform			15844112		0.627	ENSG00000133392	9849	g.chr16:15844112C>T	axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			1257			1257	57.803972	KEEP	8	13	-1	28	14	8	13	-1	59.33359	28	14	0.327586	1	0	0	0	0	0	0	1	0	--	--		0	T			MYH11_uc002ddv.2_Silent_p.K654K|MYH11_uc002ddw.2_Silent_p.K647K|MYH11_uc002ddx.2_Silent_p.K654K|MYH11_uc010bvg.2_Silent_p.K479K|MYH11_uc002dea.1_Silent_p.K353K	23	GBM-06-0145-TP	p.K647K	C	GGAACATGCCCTTCTTGGTCT	NM_002474	NP_002465	15844112	P35749	MYH11_HUMAN	0			16	2048	-	T	T			Silent	647			Myosin head-like.			
MYH11	4629	broad.mit.edu	GRCh37	16	15818586	15818586	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs150883363		TCGA-06-0185-01	TCGA-06-0185-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396324.3:c.4055G>A	p.Arg1352Gln	p.R1352Q	ENST00000396324	NM_001040114.1	1352	cGg/cAg	0	T:0.0002	T:0.0008	1	T:0		T	R/Q	uc002ddy.2	protein_coding		CCDS10565.1			4034/5919	T		CBFB		AML				ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15	c.(4033-4035)CGG>CAG			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF335,Superfamily_domains:SSF90257	smooth muscle myosin heavy chain 11 isoform		T:0.001	T:0	ENSP00000300036	T:0	30/41	7.41E-05	0.000288	8.64E-05			4.50E-05		0.000121	rs150883363,COSM2150528,COSM2150527	30/41	.		ENST00000300036	Transcript	1	T:0.0004	axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	ENSG00000133392	g.chr16:15818586C>T	7569			MODERATE		0.835	low	getma.org/?cm=msa&ty=f&p=MYH11_HUMAN&rb=1073&re=1930&var=R1345Q	NA	getma.org/?cm=var&var=hg19,16,15818586,C,T&fts=all	R1345Q	--	--	1																																		MYH11_uc002ddv.2_Missense_Mutation_p.R1352Q|MYH11_uc002ddw.2_Missense_Mutation_p.R1345Q|MYH11_uc002ddx.2_Missense_Mutation_p.R1352Q|MYH11_uc010bvg.2_Missense_Mutation_p.R1177Q|NDE1_uc010uzy.1_3'UTR|NDE1_uc002dds.2_3'UTR|MYH11_uc010bvh.2_Missense_Mutation_p.R51Q|NDE1_uc002ddz.1_RNA	0,1,1			benign(0.138)	p.R1345Q	NM_002474	NP_002465	T:0		0,1,1	MYH11_HUMAN	MYH11	HGNC	P35749	MYH11_HUMAN			Q68D89_HUMAN,Q66K75_HUMAN		30	4141	-			UPI000012FB86	1345			Potential.		SNV	MYH11,missense_variant,p.Arg1352Gln,ENST00000452625,NM_001040113.1;MYH11,missense_variant,p.Arg1352Gln,ENST00000396324,NM_001040114.1;MYH11,missense_variant,p.Arg1345Gln,ENST00000576790,NM_022844.2;MYH11,missense_variant,p.Arg1345Gln,ENST00000300036,NM_002474.2;NDE1,3_prime_UTR_variant,,ENST00000396355,NM_001143979.1;NDE1,3_prime_UTR_variant,,ENST00000396354,NM_017668.2;NDE1,3_prime_UTR_variant,,ENST00000342673,;NDE1,downstream_gene_variant,,ENST00000572967,;NDE1,downstream_gene_variant,,ENST00000573694,;AF001548.5,upstream_gene_variant,,ENST00000574212,;NDE1,non_coding_transcript_exon_variant,,ENST00000571896,;NDE1,downstream_gene_variant,,ENST00000572503,;MYH11,non_coding_transcript_exon_variant,,ENST00000571275,;MYH11,upstream_gene_variant,,ENST00000576164,;	uc002ddy.2	c.4034G>A	4144/6029	1	1			c.4034G>A	T		CBFB		AML	16	SNP	c.(4033-4035)CGG>CAG	8	8			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15	Broad	smooth muscle myosin heavy chain 11 isoform			15818586		0.597	ENSG00000133392	9849	g.chr16:15818586C>T	axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			1257			1257	259.833331	KEEP	54	69	-1	125	99	54	69	-1	267.346785	125	99	0.32872	1	0	0	0	0	1	0	0	0	--	--		0	T			MYH11_uc002ddv.2_Missense_Mutation_p.R1352Q|MYH11_uc002ddw.2_Missense_Mutation_p.R1345Q|MYH11_uc002ddx.2_Missense_Mutation_p.R1352Q|MYH11_uc010bvg.2_Missense_Mutation_p.R1177Q|NDE1_uc010uzy.1_3'UTR|NDE1_uc002dds.2_3'UTR|MYH11_uc010bvh.2_Missense_Mutation_p.R51Q|NDE1_uc002ddz.1_RNA	40	GBM-06-0185-TP	p.R1345Q	C	CAGGCTGTTCCGCTCCTCCTC	NM_002474	NP_002465	15818586	P35749	MYH11_HUMAN	0			30	4141	-	T	T			Missense_Mutation	1345			Potential.			
MYH11	4629	broad.mit.edu	GRCh37	16	15841499	15841499	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0686-01	TCGA-06-0686-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396324.3:c.2360A>G	p.Glu787Gly	p.E787G	ENST00000396324	NM_001040114.1	787	gAg/gGg	0			1			C	E/G	uc002ddy.2	protein_coding		CCDS10565.1			2339/5919	T		CBFB		AML				ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15	c.(2338-2340)GAG>GGG			PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF335,SMART_domains:SM00242,Superfamily_domains:SSF52540	smooth muscle myosin heavy chain 11 isoform				ENSP00000300036		19/41									COSM3747985,COSM3747984	19/41	.		ENST00000300036	Transcript	1		axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	ENSG00000133392	g.chr16:15841499T>C	7569			MODERATE		3.165	medium	getma.org/?cm=msa&ty=f&p=MYH11_HUMAN&rb=1&re=785&var=E780G	getma.org/pdb.php?prot=MYH11_HUMAN&from=1&to=785&var=E780G	getma.org/?cm=var&var=hg19,16,15841499,T,C&fts=all	E780G	--	--	1																																		MYH11_uc002ddv.2_Missense_Mutation_p.E787G|MYH11_uc002ddw.2_Missense_Mutation_p.E780G|MYH11_uc002ddx.2_Missense_Mutation_p.E787G|MYH11_uc010bvg.2_Missense_Mutation_p.E612G	1,1			probably_damaging(0.997)	p.E780G	NM_002474	NP_002465			1,1	MYH11_HUMAN	MYH11	HGNC	P35749	MYH11_HUMAN			Q68D89_HUMAN,Q66K75_HUMAN		19	2446	-			UPI000012FB86	780			Myosin head-like.		SNV	MYH11,missense_variant,p.Glu787Gly,ENST00000452625,NM_001040113.1;MYH11,missense_variant,p.Glu787Gly,ENST00000396324,NM_001040114.1;MYH11,missense_variant,p.Glu780Gly,ENST00000576790,NM_022844.2;MYH11,missense_variant,p.Glu780Gly,ENST00000300036,NM_002474.2;MYH11,downstream_gene_variant,,ENST00000570785,;	uc002ddy.2	c.2339A>G	2449/6029	3	3			c.2339A>G	T		CBFB		AML	16	SNP	c.(2338-2340)GAG>GGG	6	6			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15	Broad	smooth muscle myosin heavy chain 11 isoform			15841499		0.498	ENSG00000133392	9849	g.chr16:15841499T>C	axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			1257			1257	8.834498	KEEP	4	4	-1	48	35	4	4	-1	23.159982	48	35	0.093023	1	0	0	0	0	1	0	0	0	--	--		0	C			MYH11_uc002ddv.2_Missense_Mutation_p.E787G|MYH11_uc002ddw.2_Missense_Mutation_p.E780G|MYH11_uc002ddx.2_Missense_Mutation_p.E787G|MYH11_uc010bvg.2_Missense_Mutation_p.E612G	64	GBM-06-0686-TP	p.E780G	T	ATCTCGCTCCTCCTCTAGGTG	NM_002474	NP_002465	15841499	P35749	MYH11_HUMAN	0			19	2446	-	C	C			Missense_Mutation	780			Myosin head-like.			
MYH11	0	broad.mit.edu	GRCh37	16	15813552	15813552	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-6391-01	TCGA-06-6391-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300036.5:c.4972C>G	p.Gln1658Glu	p.Q1658E	ENST00000300036	NM_002474.2	1658	Caa/Gaa	0			1			C	Q/E	uc002ddy.2	protein_coding		CCDS10565.1			4972/5919	T		CBFB		AML				ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15	c.(4972-4974)CAA>GAA			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF335	smooth muscle myosin heavy chain 11 isoform				ENSP00000300036		35/41	8.24E-06					1.50E-05			rs766356741	35/41	.		ENST00000300036	Transcript	1		axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	ENSG00000133392	g.chr16:15813552G>C	7569			MODERATE		2.155	medium	getma.org/?cm=msa&ty=f&p=MYH11_HUMAN&rb=1073&re=1930&var=Q1658E	NA	getma.org/?cm=var&var=hg19,16,15813552,G,C&fts=all	Q1658E	--	--	1																																		MYH11_uc002ddv.2_Missense_Mutation_p.Q1665E|MYH11_uc002ddw.2_Missense_Mutation_p.Q1658E|MYH11_uc002ddx.2_Missense_Mutation_p.Q1665E|MYH11_uc010bvg.2_Missense_Mutation_p.Q1490E|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Missense_Mutation_p.Q364E|NDE1_uc002ddz.1_5'Flank				benign(0.151)	p.Q1658E	NM_002474	NP_002465				MYH11_HUMAN	MYH11	HGNC	P35749	MYH11_HUMAN			Q68D89_HUMAN,Q66K75_HUMAN		35	5079	-			UPI000012FB86	1658			Potential.		SNV	MYH11,missense_variant,p.Gln1665Glu,ENST00000452625,NM_001040113.1;MYH11,missense_variant,p.Gln1665Glu,ENST00000396324,NM_001040114.1;MYH11,missense_variant,p.Gln1658Glu,ENST00000576790,NM_022844.2;MYH11,missense_variant,p.Gln1658Glu,ENST00000300036,NM_002474.2;NDE1,intron_variant,,ENST00000396355,NM_001143979.1;NDE1,intron_variant,,ENST00000396354,NM_017668.2;NDE1,intron_variant,,ENST00000342673,;NDE1,intron_variant,,ENST00000572967,;NDE1,intron_variant,,ENST00000573694,;NDE1,upstream_gene_variant,,ENST00000571896,;NDE1,upstream_gene_variant,,ENST00000572503,;MYH11,non_coding_transcript_exon_variant,,ENST00000576164,;MYH11,non_coding_transcript_exon_variant,,ENST00000571275,;	uc002ddy.2	c.4972C>G	5082/6029	4	4			c.4972C>G	T		CBFB		AML	16	SNP	c.(4972-4974)CAA>GAA	48	48			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15	Broad	smooth muscle myosin heavy chain 11 isoform			15813552		0.517	ENSG00000133392	9849	g.chr16:15813552G>C	axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			1257			1257	46.413277	KEEP	12	10	-1	55	68	12	10	-1	61.080288	55	68	0.155039	1	0	0	0	0	1	0	0	0	--	--		0	C			MYH11_uc002ddv.2_Missense_Mutation_p.Q1665E|MYH11_uc002ddw.2_Missense_Mutation_p.Q1658E|MYH11_uc002ddx.2_Missense_Mutation_p.Q1665E|MYH11_uc010bvg.2_Missense_Mutation_p.Q1490E|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Missense_Mutation_p.Q364E|NDE1_uc002ddz.1_5'Flank	107	GBM-06-6391-TP	p.Q1658E	G	AGCTCTCTTTGAAAGTCCTTC	NM_002474	NP_002465	15813552	P35749	MYH11_HUMAN	0			35	5079	-	C	C			Missense_Mutation	1658			Potential.			
MYH11	0	broad.mit.edu	GRCh37	16	15857677	15857677	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2623-01	TCGA-19-2623-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300036.5:c.1105C>T	p.Gln369Ter	p.Q369*	ENST00000300036	NM_002474.2	369	Cag/Tag	0			1			A	Q/*	uc002ddy.2	protein_coding		CCDS10565.1			1105/5919	T		CBFB		AML				ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15	c.(1105-1107)CAG>TAG			Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF335,SMART_domains:SM00242,Superfamily_domains:SSF52540	smooth muscle myosin heavy chain 11 isoform				ENSP00000300036		Oct-41									COSM3402104,COSM3402103	Oct-41	.		ENST00000300036	Transcript	1		axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	ENSG00000133392	g.chr16:15857677G>A	7569			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,16,15857677,G,A&fts=all	Q369*	--	--	1																																		MYH11_uc002ddv.2_Nonsense_Mutation_p.Q376*|MYH11_uc002ddw.2_Nonsense_Mutation_p.Q369*|MYH11_uc002ddx.2_Nonsense_Mutation_p.Q376*|MYH11_uc010bvg.2_Nonsense_Mutation_p.Q201*|MYH11_uc002dea.1_Nonsense_Mutation_p.Q75*	1,1				p.Q369*	NM_002474	NP_002465			1,1	MYH11_HUMAN	MYH11	HGNC	P35749	MYH11_HUMAN			Q68D89_HUMAN,Q66K75_HUMAN		10	1212	-			UPI000012FB86	369			Myosin head-like.		SNV	MYH11,stop_gained,p.Gln376Ter,ENST00000452625,NM_001040113.1;MYH11,stop_gained,p.Gln376Ter,ENST00000396324,NM_001040114.1;MYH11,stop_gained,p.Gln369Ter,ENST00000576790,NM_022844.2;MYH11,stop_gained,p.Gln369Ter,ENST00000300036,NM_002474.2;MYH11,non_coding_transcript_exon_variant,,ENST00000570785,;	uc002ddy.2	c.1105C>T	1215/6029	5	1			c.1105C>T	T		CBFB		AML	16	SNP	c.(1105-1107)CAG>TAG	54	54			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15	Broad	smooth muscle myosin heavy chain 11 isoform			15857677		0.507	ENSG00000133392	9849	g.chr16:15857677G>A	axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			1257			1257	251.945173	KEEP	54	61	-1	112	132	54	61	-1	260.664565	112	132	0.315972	1	0	0	0	0	0	1	0	0	--	--		0	A			MYH11_uc002ddv.2_Nonsense_Mutation_p.Q376*|MYH11_uc002ddw.2_Nonsense_Mutation_p.Q369*|MYH11_uc002ddx.2_Nonsense_Mutation_p.Q376*|MYH11_uc010bvg.2_Nonsense_Mutation_p.Q201*|MYH11_uc002dea.1_Nonsense_Mutation_p.Q75*	163	GBM-19-2623-TP	p.Q369*	G	ATGGACGCCTGGTCTGTGTTT	NM_002474	NP_002465	15857677	P35749	MYH11_HUMAN	0			10	1212	-	A	A			Nonsense_Mutation	369			Myosin head-like.			
MYH11	0	broad.mit.edu	GRCh37	16	15811149	15811149	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-2495-01	TCGA-32-2495-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300036.5:c.5352G>C	p.Glu1784Asp	p.E1784D	ENST00000300036	NM_002474.2	1784	gaG/gaC	0			1			G	E/D	uc002ddy.2	protein_coding		CCDS10565.1			5352/5919	T		CBFB		AML				ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15	c.(5350-5352)GAG>GAC			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF335	smooth muscle myosin heavy chain 11 isoform				ENSP00000300036		38/41									COSM3402102,COSM3402101	38/41	.		ENST00000300036	Transcript	1		axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	ENSG00000133392	g.chr16:15811149C>G	7569			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=MYH11_HUMAN&rb=1073&re=1930&var=E1784D	NA	getma.org/?cm=var&var=hg19,16,15811149,C,G&fts=all	E1784D	--	--	1																																		MYH11_uc002ddv.2_Missense_Mutation_p.E1791D|MYH11_uc002ddw.2_Missense_Mutation_p.E1784D|MYH11_uc002ddx.2_Missense_Mutation_p.E1791D|MYH11_uc010bvg.2_Missense_Mutation_p.E1616D|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Missense_Mutation_p.E490D	1,1			probably_damaging(0.997)	p.E1784D	NM_002474	NP_002465			1,1	MYH11_HUMAN	MYH11	HGNC	P35749	MYH11_HUMAN			Q68D89_HUMAN,Q66K75_HUMAN		38	5459	-			UPI000012FB86	1784			Potential.		SNV	MYH11,missense_variant,p.Glu1791Asp,ENST00000452625,NM_001040113.1;MYH11,missense_variant,p.Glu1791Asp,ENST00000396324,NM_001040114.1;MYH11,missense_variant,p.Glu1784Asp,ENST00000576790,NM_022844.2;MYH11,missense_variant,p.Glu1784Asp,ENST00000300036,NM_002474.2;NDE1,intron_variant,,ENST00000396355,NM_001143979.1;NDE1,intron_variant,,ENST00000396354,NM_017668.2;NDE1,intron_variant,,ENST00000342673,;NDE1,intron_variant,,ENST00000572967,;NDE1,intron_variant,,ENST00000573694,;NDE1,upstream_gene_variant,,ENST00000571896,;NDE1,upstream_gene_variant,,ENST00000572503,;MYH11,non_coding_transcript_exon_variant,,ENST00000576164,;MYH11,non_coding_transcript_exon_variant,,ENST00000571275,;	uc002ddy.2	c.5352G>C	5462/6029	3	3			c.5352G>C	T		CBFB		AML	16	SNP	c.(5350-5352)GAG>GAC	59	59			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15	Broad	smooth muscle myosin heavy chain 11 isoform			15811149		0.647	ENSG00000133392	9849	g.chr16:15811149C>G	axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			1257			1257	208.277884	KEEP	30	52	-1	51	77	30	52	-1	210.184183	51	77	0.382166	1	0	0	0	0	1	0	0	0	--	--		0	G			MYH11_uc002ddv.2_Missense_Mutation_p.E1791D|MYH11_uc002ddw.2_Missense_Mutation_p.E1784D|MYH11_uc002ddx.2_Missense_Mutation_p.E1791D|MYH11_uc010bvg.2_Missense_Mutation_p.E1616D|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Missense_Mutation_p.E490D	237	GBM-32-2495-TP	p.E1784D	C	GCCGGGCACTCTCATTCTTCT	NM_002474	NP_002465	15811149	P35749	MYH11_HUMAN	0			38	5459	-	G	G			Missense_Mutation	1784			Potential.			
MYH13	8735	broad.mit.edu	GRCh37	17	10212612	10212612	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs142532419	by1000genomes	TCGA-02-2486-01	TCGA-02-2486-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000418404.3:c.5108G>A	p.Arg1703His	p.R1703H	ENST00000418404		1703	cGc/cAc	0	T:0	T:0.003	1	T:0		T	R/H	uc002gmk.1	protein_coding		CCDS45613.1			5108/5817									ovary(4)|skin(2)	6	c.(5107-5109)CGC>CAC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF267,hmmpanther:PTHR13140,Pfam_domain:PF01576,Superfamily_domains:SSF90257	myosin, heavy polypeptide 13, skeletal muscle		T:0	T:0.0002	ENSP00000252172	T:0.001	35/41	6.61E-05	0.000323	8.81E-05			4.65E-05	0.00118		rs142532419,COSM3402565,COSM3402564	35/41	.		ENST00000252172	Transcript		T:0.0010	muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	ENSG00000006788	g.chr17:10212612C>T	7571			MODERATE		4.175	high	getma.org/?cm=msa&ty=f&p=MYH13_HUMAN&rb=1072&re=1930&var=R1703H	NA	getma.org/?cm=var&var=hg19,17,10212612,C,T&fts=all	R1703H	--	--	1																																			0,1,1			probably_damaging(0.998)	p.R1703H	NM_003802	NP_003793	T:0	deleterious(0)	0,1,1	MYH13_HUMAN	MYH13	HGNC	Q9UKX3	MYH13_HUMAN					35	5198	-			UPI0000DB39EA	1703			Potential.		SNV	MYH13,missense_variant,p.Arg1703His,ENST00000418404,;MYH13,missense_variant,p.Arg1703His,ENST00000252172,NM_003802.2;RP11-401O9.4,intron_variant,,ENST00000609088,;	uc002gmk.1	c.5108G>A	5198/5992	2	2			c.5108G>A						17	SNP	c.(5107-5109)CGC>CAC	17	17			ovary(4)|skin(2)	6	Broad	myosin, heavy polypeptide 13, skeletal muscle			10212612		0.667	ENSG00000006788	9850	g.chr17:10212612C>T	muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity							50.735497	KEEP	13	12	-1	23	25	13	12	-1	51.707745	23	25	0.352941	1	0	0	0	0	1	0	0	0	--	--		0	T				8	GBM-02-2486-TP	p.R1703H	C	TGACAGCCTGCGGGTCCGCTC	NM_003802	NP_003793	10212612	Q9UKX3	MYH13_HUMAN	0			35	5198	-	T	T			Missense_Mutation	1703			Potential.			
MYH13	8735	broad.mit.edu	GRCh37	17	10215363	10215363	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2557-01	TCGA-06-2557-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000418404.3:c.4396G>A	p.Glu1466Lys	p.E1466K	ENST00000418404		1466	Gaa/Aaa	0			1			T	E/K	uc002gmk.1	protein_coding		CCDS45613.1			4396/5817									ovary(4)|skin(2)	6	c.(4396-4398)GAA>AAA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF267,hmmpanther:PTHR13140,Pfam_domain:PF01576,Superfamily_domains:SSF90257	myosin, heavy polypeptide 13, skeletal muscle				ENSP00000252172		32/41	0.000132					0.00024			rs775118096,COSM3402569,COSM3402568	32/41	.		ENST00000252172	Transcript			muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	ENSG00000006788	g.chr17:10215363C>T	7571			MODERATE		3	medium	getma.org/?cm=msa&ty=f&p=MYH13_HUMAN&rb=1072&re=1930&var=E1466K	NA	getma.org/?cm=var&var=hg19,17,10215363,C,T&fts=all	E1466K	--	--	1																																			0,1,1			benign(0.008)	p.E1466K	NM_003802	NP_003793		deleterious(0.02)	0,1,1	MYH13_HUMAN	MYH13	HGNC	Q9UKX3	MYH13_HUMAN					32	4486	-			UPI0000DB39EA	1466			Potential.		SNV	MYH13,missense_variant,p.Glu1466Lys,ENST00000418404,;MYH13,missense_variant,p.Glu1466Lys,ENST00000252172,NM_003802.2;RP11-401O9.4,intron_variant,,ENST00000609088,;	uc002gmk.1	c.4396G>A	4486/5992	1	1			c.4396G>A						17	SNP	c.(4396-4398)GAA>AAA	13	13			ovary(4)|skin(2)	6	Broad	myosin, heavy polypeptide 13, skeletal muscle			10215363		0.517	ENSG00000006788	9850	g.chr17:10215363C>T	muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity							55.382602	KEEP	8	13	-1	23	25	8	13	-1	57.246252	23	25	0.31746	1	0	0	0	0	1	0	0	0	--	--		0	T				81	GBM-06-2557-TP	p.E1466K	C	GCCTGGCTTTCGTCCAGCTTT	NM_003802	NP_003793	10215363	Q9UKX3	MYH13_HUMAN	0			32	4486	-	T	T			Missense_Mutation	1466			Potential.			
MYH13	8735	broad.mit.edu	GRCh37	17	10213133	10213133	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2559-01	TCGA-06-2559-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000418404.3:c.4671C>T	p.His1557=	p.H1557=	ENST00000418404		1557	caC/caT	0			1			A	H	uc002gmk.1	protein_coding		CCDS45613.1			4671/5817									ovary(4)|skin(2)	6	c.(4669-4671)CAC>CAT			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF267,hmmpanther:PTHR13140,Pfam_domain:PF01576	myosin, heavy polypeptide 13, skeletal muscle				ENSP00000252172		34/41									rs764908477,COSM435965,COSM435966	34/41	.		ENST00000252172	Transcript			muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	ENSG00000006788	g.chr17:10213133G>A	7571			LOW								--	--	1																																			0,1,1				p.H1557H	NM_003802	NP_003793			0,1,1	MYH13_HUMAN	MYH13	HGNC	Q9UKX3	MYH13_HUMAN					34	4761	-			UPI0000DB39EA	1557			Potential.		SNV	MYH13,synonymous_variant,p.=,ENST00000418404,;MYH13,synonymous_variant,p.=,ENST00000252172,NM_003802.2;RP11-401O9.4,intron_variant,,ENST00000609088,;	uc002gmk.1	c.4671C>T	4761/5992	1	1			c.4671C>T						17	SNP	c.(4669-4671)CAC>CAT	52	52			ovary(4)|skin(2)	6	Broad	myosin, heavy polypeptide 13, skeletal muscle			10213133		0.498	ENSG00000006788	9850	g.chr17:10213133G>A	muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity							15.675707	KEEP	3	3	-1	1	3	3	3	-1	15.699866	1	3	0.555556	1	0	0	0	0	0	0	1	0	--	--		0	A				83	GBM-06-2559-TP	p.H1557H	G	TGCTCTCCTCGTGTTCCAAGG	NM_003802	NP_003793	10213133	Q9UKX3	MYH13_HUMAN	0			34	4761	-	A	A			Silent	1557			Potential.			
MYH13	8735	broad.mit.edu	GRCh37	17	10206539	10206539	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-2567-01	TCGA-06-2567-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000418404.3:c.5641T>C	p.Ser1881Pro	p.S1881P	ENST00000418404		1881	Tct/Cct	0			1			G	S/P	uc002gmk.1	protein_coding		CCDS45613.1			5641/5817									ovary(4)|skin(2)	6	c.(5641-5643)TCT>CCT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF267,hmmpanther:PTHR13140,Pfam_domain:PF01576,Superfamily_domains:SSF57997	myosin, heavy polypeptide 13, skeletal muscle				ENSP00000252172		39/41									COSM3402563,COSM3402562	39/41	.		ENST00000252172	Transcript			muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	ENSG00000006788	g.chr17:10206539A>G	7571			MODERATE		3.07	medium	getma.org/?cm=msa&ty=f&p=MYH13_HUMAN&rb=1072&re=1930&var=S1881P	NA	getma.org/?cm=var&var=hg19,17,10206539,A,G&fts=all	S1881P	--	--	1																																			1,1			benign(0.087)	p.S1881P	NM_003802	NP_003793		deleterious(0)	1,1	MYH13_HUMAN	MYH13	HGNC	Q9UKX3	MYH13_HUMAN					39	5731	-			UPI0000DB39EA	1881			Potential.		SNV	MYH13,missense_variant,p.Ser1881Pro,ENST00000418404,;MYH13,missense_variant,p.Ser1881Pro,ENST00000252172,NM_003802.2;RP11-401O9.4,intron_variant,,ENST00000609088,;	uc002gmk.1	c.5641T>C	5731/5992	3	3			c.5641T>C						17	SNP	c.(5641-5643)TCT>CCT	59	59			ovary(4)|skin(2)	6	Broad	myosin, heavy polypeptide 13, skeletal muscle			10206539		0.612	ENSG00000006788	9850	g.chr17:10206539A>G	muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity							341.433082	KEEP	55	61	-1	106	82	55	61	-1	344.26121	106	82	0.388462	1	0	0	0	0	1	0	0	0	--	--		0	G				89	GBM-06-2567-TP	p.S1881P	A	CTCTTGTAAGACTTCACTTTG	NM_003802	NP_003793	10206539	Q9UKX3	MYH13_HUMAN	0			39	5731	-	G	G			Missense_Mutation	1881			Potential.			
MYH13	0	broad.mit.edu	GRCh37	17	10243484	10243484	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-4210-01	TCGA-32-4210-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252172.4:c.2039A>G	p.Asn680Ser	p.N680S	ENST00000252172	NM_003802.2	680	aAt/aGt	0			1			C	N/S	uc002gmk.1	protein_coding		CCDS45613.1			2039/5817									ovary(4)|skin(2)	6	c.(2038-2040)AAT>AGT			PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF267,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	myosin, heavy polypeptide 13, skeletal muscle				ENSP00000252172		18/41	8.27E-06		9.40E-05						rs753941743,COSM3402573,COSM3402572	18/41	.		ENST00000252172	Transcript			muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	ENSG00000006788	g.chr17:10243484T>C	7571			MODERATE		4.355	high	getma.org/?cm=msa&ty=f&p=MYH13_HUMAN&rb=88&re=770&var=N680S	getma.org/pdb.php?prot=MYH13_HUMAN&from=88&to=770&var=N680S	getma.org/?cm=var&var=hg19,17,10243484,T,C&fts=all	N680S	--	--	1																																			0,1,1			possibly_damaging(0.702)	p.N680S	NM_003802	NP_003793		deleterious(0)	0,1,1	MYH13_HUMAN	MYH13	HGNC	Q9UKX3	MYH13_HUMAN					18	2129	-			UPI0000DB39EA	680			Myosin head-like.|Actin-binding (By similarity).		SNV	MYH13,missense_variant,p.Asn680Ser,ENST00000418404,;MYH13,missense_variant,p.Asn680Ser,ENST00000252172,NM_003802.2;RP11-401O9.3,intron_variant,,ENST00000577743,;	uc002gmk.1	c.2039A>G	2129/5992	3	3			c.2039A>G						17	SNP	c.(2038-2040)AAT>AGT	63	63			ovary(4)|skin(2)	6	Broad	myosin, heavy polypeptide 13, skeletal muscle			10243484		0.423	ENSG00000006788	9850	g.chr17:10243484T>C	muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity							-1.580655	KEEP	2	0	-1	16	25	2	0	-1	6.451949	16	25	0.052632	1	0	0	0	0	1	0	0	0	--	--		0	C				245	GBM-32-4210-TP	p.N680S	T	CTTGGTCTCATTGGGAATCAG	NM_003802	NP_003793	10243484	Q9UKX3	MYH13_HUMAN	0			18	2129	-	C	C			Missense_Mutation	680			Myosin head-like.|Actin-binding (By similarity).			
MYH13	0	broad.mit.edu	GRCh37	17	10233822	10233822	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-6282-01	TCGA-76-6282-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252172.4:c.2317C>A	p.Leu773Ile	p.L773I	ENST00000252172	NM_003802.2	773	Ctc/Atc	0			1			T	L/I	uc002gmk.1	protein_coding		CCDS45613.1			2317/5817									ovary(4)|skin(2)	6	c.(2317-2319)CTC>ATC			PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF267,hmmpanther:PTHR13140,SMART_domains:SM00242,Superfamily_domains:SSF52540	myosin, heavy polypeptide 13, skeletal muscle				ENSP00000252172		21/41									COSM3402571,COSM3402570	21/41	.		ENST00000252172	Transcript			muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	ENSG00000006788	g.chr17:10233822G>T	7571			MODERATE		1.84	low	getma.org/?cm=msa&ty=f&p=MYH13_HUMAN&rb=1&re=784&var=L773I	getma.org/pdb.php?prot=MYH13_HUMAN&from=1&to=784&var=L773I	getma.org/?cm=var&var=hg19,17,10233822,G,T&fts=all	L773I	--	--	1																																			1,1			probably_damaging(0.989)	p.L773I	NM_003802	NP_003793		tolerated(0.11)	1,1	MYH13_HUMAN	MYH13	HGNC	Q9UKX3	MYH13_HUMAN					21	2407	-			UPI0000DB39EA	773			Myosin head-like.|Actin-binding (By similarity).		SNV	MYH13,missense_variant,p.Leu773Ile,ENST00000418404,;MYH13,missense_variant,p.Leu773Ile,ENST00000252172,NM_003802.2;RP11-401O9.3,intron_variant,,ENST00000577743,;	uc002gmk.1	c.2317C>A	2407/5992	1	1			c.2317C>A						17	SNP	c.(2317-2319)CTC>ATC	6	6			ovary(4)|skin(2)	6	Broad	myosin, heavy polypeptide 13, skeletal muscle			10233822		0.557	ENSG00000006788	9850	g.chr17:10233822G>T	muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity							7.515886	KEEP	0	4	-1	6	7	0	4	-1	8.771719	6	7	0.2	1	0	0	0	0	1	0	0	0	--	--		0	T				278	GBM-76-6282-TP	p.L773I	G	AGTCCCAGGAGCCCAGCTTTG	NM_003802	NP_003793	10233822	Q9UKX3	MYH13_HUMAN	0			21	2407	-	T	T			Missense_Mutation	773			Myosin head-like.|Actin-binding (By similarity).			
MYH13	8735		GRCh37	17	10215249	10215249	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000418404.3:c.4510C>T	p.Arg1504Ter	p.R1504*	ENST00000418404		1504	Cga/Tga	0																																																																																																																																																																																																																																												
MYH13	8735		GRCh37	17	10209843	10209843	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000418404.3:c.5399G>A	p.Arg1800His	p.R1800H	ENST00000418404		1800	cGt/cAt	0																																																																																																																																																																																																																																												
MYH14	0	broad.mit.edu	GRCh37	19	50792885	50792885	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01	TCGA-19-2619-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376970.2:c.4921C>T	p.Arg1641Trp	p.R1641W	ENST00000376970	NM_024729.3	1641	Cgg/Tgg	0			1			T	R/W	uc002prr.1	protein_coding					4921/6087									central_nervous_system(1)	1	c.(4822-4824)CGG>TGG			Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF90257,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF318	myosin, heavy chain 14 isoform 2				ENSP00000366169		34/42									COSM3404475,COSM3404476	34/42	.		ENST00000376970	Transcript	1		axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	ENSG00000105357	g.chr19:50792885C>T	23212			MODERATE		2.66	medium	getma.org/?cm=msa&ty=f&p=MYH14_HUMAN&rb=1090&re=1947&var=R1608W	NA	getma.org/?cm=var&var=hg19,19,50792885,C,T&fts=all	R1608W	--	--	1																																		MYH14_uc010enu.1_Missense_Mutation_p.R1649W|MYH14_uc002prq.1_Missense_Mutation_p.R1616W|MYH14_uc010ycb.1_5'UTR|MYH14_uc002prs.1_5'UTR	1,1			probably_damaging(0.973)	p.R1608W	NM_024729	NP_079005			1,1		MYH14	HGNC	Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	F2Z2U8_HUMAN,A1L2Z2_HUMAN		33	4869	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	UPI0000551C8C	1608			Potential.		SNV	MYH14,missense_variant,p.Arg1649Trp,ENST00000440075,;MYH14,missense_variant,p.Arg1649Trp,ENST00000601313,NM_001145809.1;MYH14,missense_variant,p.Arg1641Trp,ENST00000376970,NM_024729.3;MYH14,missense_variant,p.Arg1649Trp,ENST00000262269,;MYH14,missense_variant,p.Arg1616Trp,ENST00000425460,NM_001077186.1;MYH14,missense_variant,p.Arg1616Trp,ENST00000598205,;MYH14,missense_variant,p.Arg1608Trp,ENST00000596571,;MYH14,non_coding_transcript_exon_variant,,ENST00000595016,;	uc002prr.1	c.4822C>T	4968/6886	2	2			c.4822C>T						19	SNP	c.(4822-4824)CGG>TGG	41	41			central_nervous_system(1)	1	Broad	myosin, heavy chain 14 isoform 2			50792885		0.612	ENSG00000105357	9851	g.chr19:50792885C>T	axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity							12.361804	KEEP	4	2	-1	3	4	4	2	-1	12.382765	3	4	0.454545	1	0	0	0	0	1	0	0	0	--	--		0	T			MYH14_uc010enu.1_Missense_Mutation_p.R1649W|MYH14_uc002prq.1_Missense_Mutation_p.R1616W|MYH14_uc010ycb.1_5'UTR|MYH14_uc002prs.1_5'UTR	161	GBM-19-2619-TP	p.R1608W	C	TGAAGAGAGGCGGAGGCAGCT	NM_024729	NP_079005	50792885	Q7Z406	MYH14_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	33	4869	+	T	T		all_neural(266;0.0571)|Ovarian(192;0.0728)	Missense_Mutation	1608			Potential.			
MYH14	0	broad.mit.edu	GRCh37	19	50713834	50713834	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376970.2:c.212G>A	p.Arg71Gln	p.R71Q	ENST00000376970	NM_024729.3	71	cGg/cAg	0			1			A	R/Q	uc002prr.1	protein_coding					212/6087									central_nervous_system(1)	1	c.(211-213)CGG>CAG			Low_complexity_(Seg):seg,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF318	myosin, heavy chain 14 isoform 2				ENSP00000366169		Feb-42									COSM3404474,COSM3404472,COSM3404473	Feb-42	.		ENST00000376970	Transcript	1		axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	ENSG00000105357	g.chr19:50713834G>A	23212			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=MYH14_HUMAN&rb=53&re=95&var=R71Q	getma.org/pdb.php?prot=MYH14_HUMAN&from=53&to=95&var=R71Q	getma.org/?cm=var&var=hg19,19,50713834,G,A&fts=all	R71Q	--	--	1																																		MYH14_uc010enu.1_Missense_Mutation_p.R71Q|MYH14_uc002prq.1_Missense_Mutation_p.R71Q	1,1,1			possibly_damaging(0.853)	p.R71Q	NM_024729	NP_079005			1,1,1		MYH14	HGNC	Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	F2Z2U8_HUMAN,A1L2Z2_HUMAN		2	259	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	UPI0000551C8C	71			Myosin head-like.		SNV	MYH14,missense_variant,p.Arg71Gln,ENST00000440075,;MYH14,missense_variant,p.Arg71Gln,ENST00000601313,NM_001145809.1;MYH14,missense_variant,p.Arg71Gln,ENST00000376970,NM_024729.3;MYH14,missense_variant,p.Arg71Gln,ENST00000262269,;MYH14,missense_variant,p.Arg71Gln,ENST00000425460,NM_001077186.1;MYH14,missense_variant,p.Arg71Gln,ENST00000598205,;MYH14,missense_variant,p.Arg71Gln,ENST00000596571,;MYH14,missense_variant,p.Arg71Gln,ENST00000599920,;	uc002prr.1	c.212G>A	259/6886	2	2			c.212G>A						19	SNP	c.(211-213)CGG>CAG	28	28			central_nervous_system(1)	1	Broad	myosin, heavy chain 14 isoform 2			50713834		0.736	ENSG00000105357	9851	g.chr19:50713834G>A	axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity							7.749119	KEEP	0	2	-1	4	0	0	2	-1	7.792827	4	0	0.4	1	0	0	0	0	1	0	0	0	--	--		0	A			MYH14_uc010enu.1_Missense_Mutation_p.R71Q|MYH14_uc002prq.1_Missense_Mutation_p.R71Q	235	GBM-32-2491-TP	p.R71Q	G	GCGGCGCTGCGGGACGAAGGC	NM_024729	NP_079005	50713834	Q7Z406	MYH14_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	2	259	+	A	A		all_neural(266;0.0571)|Ovarian(192;0.0728)	Missense_Mutation	71			Myosin head-like.			
MYH15	0	broad.mit.edu	GRCh37	3	108205332	108205332	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-19-2619-01	TCGA-19-2619-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273353.3:c.973delT	p.Cys325AlafsTer50	p.C325Afs*50	ENST00000273353	NM_014981.1	325	Tgc/gc	0			1			-	C/X	uc003dxa.1	protein_coding	YES	CCDS43127.1			973/5841									ovary(5)|central_nervous_system(2)	7	c.(973-975)TGCfs			Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF263,SMART_domains:SM00242,Superfamily_domains:SSF52540	myosin, heavy polypeptide 15				ENSP00000273353		Nov-42									COSM2156155	Nov-42	.		ENST00000273353	Transcript				myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	ENSG00000144821	g.chr3:108205332delA	31073			HIGH								--	--	1																																			1	1			p.C325fs	NM_014981	NP_055796			1	MYH15_HUMAN	MYH15	HGNC	Q9Y2K3	MYH15_HUMAN			H9XFA0_HUMAN		11	1030	-			UPI0000253B6F	325			Myosin head-like.		deletion	MYH15,frameshift_variant,p.Cys325AlafsTer50,ENST00000273353,NM_014981.1;	uc003dxa.1	c.973delT	1030/7074	5	5			c.973delT						3	DEL	c.(973-975)TGCfs	29	29			ovary(5)|central_nervous_system(2)	7	Broad	myosin, heavy polypeptide 15			108205332		0.438	ENSG00000144821	9852	g.chr3:108205332delA		myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity																				0.46	1	1	0	1	0	0	0	0	0	--	--		0	-				161	GBM-19-2619-TP	p.C325fs	A	CCACAGGAGCAAAAGTGGAAG	NM_014981	NP_055796	108205332	Q9Y2K3	MYH15_HUMAN	0			11	1030	-	-	-			Frame_Shift_Del	325			Myosin head-like.			
MYH15	0	broad.mit.edu	GRCh37	3	108189636	108189636	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-27-1834-01	TCGA-27-1834-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273353.3:c.1352T>C	p.Leu451Pro	p.L451P	ENST00000273353	NM_014981.1	451	cTa/cCa	0			1			G	L/P	uc003dxa.1	protein_coding	YES	CCDS43127.1			1352/5841									ovary(5)|central_nervous_system(2)	7	c.(1351-1353)CTA>CCA			Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF263,SMART_domains:SM00242,Superfamily_domains:SSF52540	myosin, heavy polypeptide 15				ENSP00000273353		14/42									COSM3408098	14/42	.		ENST00000273353	Transcript				myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	ENSG00000144821	g.chr3:108189636A>G	31073			MODERATE		4.56	high	getma.org/?cm=msa&ty=f&p=MYH15_HUMAN&rb=105&re=778&var=L451P	getma.org/pdb.php?prot=MYH15_HUMAN&from=105&to=778&var=L451P	getma.org/?cm=var&var=hg19,3,108189636,A,G&fts=all	L451P	--	--	1																																			1	1		probably_damaging(1)	p.L451P	NM_014981	NP_055796		deleterious(0)	1	MYH15_HUMAN	MYH15	HGNC	Q9Y2K3	MYH15_HUMAN			H9XFA0_HUMAN		14	1409	-			UPI0000253B6F	451			Myosin head-like.		SNV	MYH15,missense_variant,p.Leu451Pro,ENST00000273353,NM_014981.1;	uc003dxa.1	c.1352T>C	1409/7074	3	3			c.1352T>C						3	SNP	c.(1351-1353)CTA>CCA	49	49			ovary(5)|central_nervous_system(2)	7	Broad	myosin, heavy polypeptide 15			108189636		0.458	ENSG00000144821	9852	g.chr3:108189636A>G		myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity							7.63016	KEEP	2	6	-1	34	68	2	6	-1	23.514583	34	68	0.086957	1	0	0	0	0	1	0	0	0	--	--		0	G				193	GBM-27-1834-TP	p.L451P	A	CCGTGCCACTAGCCACTTAAA	NM_014981	NP_055796	108189636	Q9Y2K3	MYH15_HUMAN	0			14	1409	-	G	G			Missense_Mutation	451			Myosin head-like.			
MYH15	0	broad.mit.edu	GRCh37	3	108179152	108179152	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-2495-01	TCGA-32-2495-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273353.3:c.1987C>G	p.His663Asp	p.H663D	ENST00000273353	NM_014981.1	663	Cat/Gat	0			1			C	H/D	uc003dxa.1	protein_coding	YES	CCDS43127.1			1987/5841									ovary(5)|central_nervous_system(2)	7	c.(1987-1989)CAT>GAT			Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF263,SMART_domains:SM00242,Superfamily_domains:SSF52540	myosin, heavy polypeptide 15				ENSP00000273353		18/42									COSM3408097	18/42	.		ENST00000273353	Transcript				myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	ENSG00000144821	g.chr3:108179152G>C	31073			MODERATE		4.03	high	getma.org/?cm=msa&ty=f&p=MYH15_HUMAN&rb=105&re=778&var=H663D	getma.org/pdb.php?prot=MYH15_HUMAN&from=105&to=778&var=H663D	getma.org/?cm=var&var=hg19,3,108179152,G,C&fts=all	H663D	--	--	1																																			1	1		probably_damaging(0.999)	p.H663D	NM_014981	NP_055796		deleterious(0.01)	1	MYH15_HUMAN	MYH15	HGNC	Q9Y2K3	MYH15_HUMAN			H9XFA0_HUMAN		18	2044	-			UPI0000253B6F	663			Myosin head-like.		SNV	MYH15,missense_variant,p.His663Asp,ENST00000273353,NM_014981.1;MYH15,non_coding_transcript_exon_variant,,ENST00000495753,;MYH15,upstream_gene_variant,,ENST00000478998,;	uc003dxa.1	c.1987C>G	2044/7074	3	3			c.1987C>G						3	SNP	c.(1987-1989)CAT>GAT	50	50			ovary(5)|central_nervous_system(2)	7	Broad	myosin, heavy polypeptide 15			108179152		0.299	ENSG00000144821	9852	g.chr3:108179152G>C		myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity							1.726721	KEEP	4	0	-1	19	14	4	0	-1	6.758137	19	14	0.074074	1	0	0	0	0	1	0	0	0	--	--		0	C				237	GBM-32-2495-TP	p.H663D	G	ATTACTTTATGCAGAGATGCA	NM_014981	NP_055796	108179152	Q9Y2K3	MYH15_HUMAN	0			18	2044	-	C	C			Missense_Mutation	663			Myosin head-like.			
MYH2	4620	broad.mit.edu	GRCh37	17	10430104	10430104	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0141-01	TCGA-06-0141-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245503.5:c.3999C>T	p.Asn1333=	p.N1333=	ENST00000245503	NM_017534.5	1333	aaC/aaT	0			1			A	N	uc010coi.2	protein_coding	YES	CCDS11156.1			3999/5826									ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14	c.(3997-3999)AAC>AAT			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF314,Superfamily_domains:SSF90257	myosin heavy chain IIa				ENSP00000245503		30/40	4.94E-05					8.99E-05			rs754876628,COSM1128828	30/40	.		ENST00000245503	Transcript	1		muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	ENSG00000125414	g.chr17:10430104G>A	7572			LOW								--	--	1																																		uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.N1333N|MYH2_uc010coj.2_Intron	0,1	1			p.N1333N	NM_001100112	NP_001093582			0,1	MYH2_HUMAN	MYH2	HGNC	Q9UKX2	MYH2_HUMAN			J3QLR0_HUMAN,E7EX84_HUMAN,C9JIX4_HUMAN		30	4127	-			UPI000012FB6C	1333			Potential.		SNV	MYH2,synonymous_variant,p.=,ENST00000245503,NM_017534.5;MYH2,synonymous_variant,p.=,ENST00000397183,NM_001100112.1;MYH2,intron_variant,,ENST00000532183,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	uc010coi.2	c.3999C>T	4384/6339	1	1			c.3999C>T						17	SNP	c.(3997-3999)AAC>AAT	64	64			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14	Broad	myosin heavy chain IIa			10430104		0.498	ENSG00000125414	9853	g.chr17:10430104G>A	muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle							-11.307644	KEEP	4	1	-1	51	46	4	1	-1	9.61905	51	46	0.05102	1	0	0	0	0	0	0	1	0	--	--		0	A			uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.N1333N|MYH2_uc010coj.2_Intron	21	GBM-06-0141-TP	p.N1333N	G	GCGCCAGGGCGTTCTTGGCCT	NM_001100112	NP_001093582	10430104	Q9UKX2	MYH2_HUMAN	0			30	4127	-	A	A			Silent	1333			Potential.			
MYH2	4620	broad.mit.edu	GRCh37	17	10428788	10428788	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0154-01	TCGA-06-0154-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245503.5:c.4517G>A	p.Arg1506Gln	p.R1506Q	ENST00000245503	NM_017534.5	1506	cGa/cAa	0			1			T	R/Q	uc010coi.2	protein_coding	YES	CCDS11156.1			4517/5826								p.R1506*(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14	c.(4516-4518)CGA>CAA			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF314,Superfamily_domains:SSF90257	myosin heavy chain IIa				ENSP00000245503		32/40									COSM162717	32/40	.		ENST00000245503	Transcript	1		muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	ENSG00000125414	g.chr17:10428788C>T	7572			MODERATE		4.255	high	getma.org/?cm=msa&ty=f&p=MYH2_HUMAN&rb=1074&re=1932&var=R1506Q	NA	getma.org/?cm=var&var=hg19,17,10428788,C,T&fts=all	R1506Q	--	--	1																																		uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R1506Q|MYH2_uc010coj.2_Intron	1	1		probably_damaging(0.982)	p.R1506Q	NM_001100112	NP_001093582		deleterious(0.01)	1	MYH2_HUMAN	MYH2	HGNC	Q9UKX2	MYH2_HUMAN			J3QLR0_HUMAN,E7EX84_HUMAN,C9JIX4_HUMAN		32	4645	-			UPI000012FB6C	1506			Potential.		SNV	MYH2,missense_variant,p.Arg1506Gln,ENST00000245503,NM_017534.5;MYH2,missense_variant,p.Arg1506Gln,ENST00000397183,NM_001100112.1;MYH2,intron_variant,,ENST00000532183,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	uc010coi.2	c.4517G>A	4902/6339	2	2			c.4517G>A						17	SNP	c.(4516-4518)CGA>CAA	25	25		p.R1506*(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14	Broad	myosin heavy chain IIa			10428788		0.428	ENSG00000125414	9853	g.chr17:10428788C>T	muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle							184.25044	KEEP	42	28	-1	77	87	42	28	-1	190.341205	77	87	0.315	1	0	0	0	0	1	0	0	0	--	--		0	T			uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R1506Q|MYH2_uc010coj.2_Intron	26	GBM-06-0154-TP	p.R1506Q	C	TTTGTTCTCTCGCTTCAGGGT	NM_001100112	NP_001093582	10428788	Q9UKX2	MYH2_HUMAN	0			32	4645	-	T	T			Missense_Mutation	1506			Potential.			
MYH2	4620	broad.mit.edu	GRCh37	17	10442604	10442604	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0154-01	TCGA-06-0154-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245503.5:c.1334G>A	p.Arg445His	p.R445H	ENST00000245503	NM_017534.5	445	cGc/cAc	0	T:0	T:0	1	T:0		T	R/H	uc010coi.2	protein_coding	YES	CCDS11156.1			1334/5826								p.R445H(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14	c.(1333-1335)CGC>CAC			Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF314,SMART_domains:SM00242,Superfamily_domains:SSF52540	myosin heavy chain IIa		T:0.001	T:0.0002	ENSP00000245503	T:0	14/40	7.41E-05	9.61E-05	8.64E-05	0.000231		7.49E-05			rs201040489,COSM71742	14/40	.		ENST00000245503	Transcript	1	T:0.0002	muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	ENSG00000125414	g.chr17:10442604C>T	7572			MODERATE		3.22	medium	getma.org/?cm=msa&ty=f&p=MYH2_HUMAN&rb=88&re=772&var=R445H	getma.org/pdb.php?prot=MYH2_HUMAN&from=88&to=772&var=R445H	getma.org/?cm=var&var=hg19,17,10442604,C,T&fts=all	R445H	--	--	1																																		uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R445H|MYH2_uc010coj.2_Missense_Mutation_p.R445H	0,1	1		probably_damaging(0.985)	p.R445H	NM_001100112	NP_001093582	T:0	deleterious(0.01)	0,1	MYH2_HUMAN	MYH2	HGNC	Q9UKX2	MYH2_HUMAN			J3QLR0_HUMAN,E7EX84_HUMAN,C9JIX4_HUMAN		14	1462	-			UPI000012FB6C	445			Myosin head-like.		SNV	MYH2,missense_variant,p.Arg445His,ENST00000245503,NM_017534.5;MYH2,missense_variant,p.Arg445His,ENST00000397183,NM_001100112.1;MYH2,missense_variant,p.Arg445His,ENST00000532183,;MYH2,downstream_gene_variant,,ENST00000420805,;MYH2,downstream_gene_variant,,ENST00000578017,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,downstream_gene_variant,,ENST00000399342,;RP11-799N11.1,downstream_gene_variant,,ENST00000581304,;	uc010coi.2	c.1334G>A	1719/6339	2	2			c.1334G>A						17	SNP	c.(1333-1335)CGC>CAC	22	22		p.R445H(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14	Broad	myosin heavy chain IIa			10442604		0.473	ENSG00000125414	9853	g.chr17:10442604C>T	muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle							-71.434412	KEEP	4	2	-1	175	171	4	2	-1	6.908658	175	171	0.016835	1	0	0	0	0	1	0	0	0	--	--		0	T			uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R445H|MYH2_uc010coj.2_Missense_Mutation_p.R445H	26	GBM-06-0154-TP	p.R445H	C	CTGGTTGATGCGGGCAACCAT	NM_001100112	NP_001093582	10442604	Q9UKX2	MYH2_HUMAN	0			14	1462	-	T	T			Missense_Mutation	445			Myosin head-like.			
MYH2	4620	broad.mit.edu	GRCh37	17	10428349	10428349	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245503.5:c.4696C>T	p.Arg1566Cys	p.R1566C	ENST00000245503	NM_017534.5	1566	Cgc/Tgc	0		A:0	1	A:0		A	R/C	uc010coi.2	protein_coding	YES	CCDS11156.1			4696/5826									ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14	c.(4696-4698)CGC>TGC			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF314	myosin heavy chain IIa		A:0		ENSP00000245503	A:0	34/40	0.000379					1.50E-05		0.00273	rs529367667,COSM3402593	34/40	common_variant		ENST00000245503	Transcript	1	A:0.0004	muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	ENSG00000125414	g.chr17:10428349G>A	7572			MODERATE		3.445	medium	getma.org/?cm=msa&ty=f&p=MYH2_HUMAN&rb=1074&re=1932&var=R1566C	NA	getma.org/?cm=var&var=hg19,17,10428349,G,A&fts=all	R1566C	--	--	1																																		uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R1566C|MYH2_uc010coj.2_Intron	0,1	1		probably_damaging(0.929)	p.R1566C	NM_001100112	NP_001093582	A:0.002	deleterious(0)	0,1	MYH2_HUMAN	MYH2	HGNC	Q9UKX2	MYH2_HUMAN			J3QLR0_HUMAN,E7EX84_HUMAN,C9JIX4_HUMAN		34	4824	-			UPI000012FB6C	1566			Potential.		SNV	MYH2,missense_variant,p.Arg1566Cys,ENST00000245503,NM_017534.5;MYH2,missense_variant,p.Arg1566Cys,ENST00000397183,NM_001100112.1;MYH2,intron_variant,,ENST00000532183,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	uc010coi.2	c.4696C>T	5081/6339	2	2			c.4696C>T						17	SNP	c.(4696-4698)CGC>TGC	29	29			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14	Broad	myosin heavy chain IIa			10428349		0.408	ENSG00000125414	9853	g.chr17:10428349G>A	muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle							169.799911	KEEP	33	33	-1	119	104	33	33	-1	176.927307	119	104	0.302439	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R1566C|MYH2_uc010coj.2_Intron	46	GBM-06-0209-TP	p.R1566C	G	AGCTGGATGCGCAGGATCTTT	NM_001100112	NP_001093582	10428349	Q9UKX2	MYH2_HUMAN	0			34	4824	-	A	A			Missense_Mutation	1566			Potential.			
MYH2	4620	broad.mit.edu	GRCh37	17	10429979	10429979	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0650-01	TCGA-06-0650-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245503.5:c.4124C>G	p.Ala1375Gly	p.A1375G	ENST00000245503	NM_017534.5	1375	gCc/gGc	0			1			C	A/G	uc010coi.2	protein_coding	YES	CCDS11156.1			4124/5826									ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14	c.(4123-4125)GCC>GGC			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF314	myosin heavy chain IIa				ENSP00000245503		30/40									COSM3402594	30/40	.		ENST00000245503	Transcript	1		muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	ENSG00000125414	g.chr17:10429979G>C	7572			MODERATE		2.835	medium	getma.org/?cm=msa&ty=f&p=MYH2_HUMAN&rb=1074&re=1932&var=A1375G	NA	getma.org/?cm=var&var=hg19,17,10429979,G,C&fts=all	A1375G	--	--	1																																		uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.A1375G|MYH2_uc010coj.2_Intron	1	1		possibly_damaging(0.692)	p.A1375G	NM_001100112	NP_001093582		deleterious(0)	1	MYH2_HUMAN	MYH2	HGNC	Q9UKX2	MYH2_HUMAN			J3QLR0_HUMAN,E7EX84_HUMAN,C9JIX4_HUMAN		30	4252	-			UPI000012FB6C	1375			Potential.		SNV	MYH2,missense_variant,p.Ala1375Gly,ENST00000245503,NM_017534.5;MYH2,missense_variant,p.Ala1375Gly,ENST00000397183,NM_001100112.1;MYH2,intron_variant,,ENST00000532183,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	uc010coi.2	c.4124C>G	4509/6339	3	3			c.4124C>G						17	SNP	c.(4123-4125)GCC>GGC	16	16			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14	Broad	myosin heavy chain IIa			10429979		0.567	ENSG00000125414	9853	g.chr17:10429979G>C	muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle							29.490406	KEEP	8	14	-1	72	94	8	14	-1	53.461549	72	94	0.119048	1	0	0	0	0	1	0	0	0	--	--		0	C			uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.A1375G|MYH2_uc010coj.2_Intron	63	GBM-06-0650-TP	p.A1375G	G	CCTCCATTGGGCAACCTCGGT	NM_001100112	NP_001093582	10429979	Q9UKX2	MYH2_HUMAN	0			30	4252	-	C	C			Missense_Mutation	1375			Potential.			
MYH2	4620	broad.mit.edu	GRCh37	17	10427836	10427836	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs147813930		TCGA-06-0749-01	TCGA-06-0749-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245503.5:c.5122G>A	p.Ala1708Thr	p.A1708T	ENST00000245503	NM_017534.5	1708	Gca/Aca	0	T:0		1			T	A/T	uc010coi.2	protein_coding	YES	CCDS11156.1			5122/5826									ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14	c.(5122-5124)GCA>ACA			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF314	myosin heavy chain IIa			T:0.0003	ENSP00000245503		35/40	0.000115					0.00021			rs147813930,COSM2151869	35/40	.		ENST00000245503	Transcript	1		muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	ENSG00000125414	g.chr17:10427836C>T	7572			MODERATE		3.575	high	getma.org/?cm=msa&ty=f&p=MYH2_HUMAN&rb=1074&re=1932&var=A1708T	NA	getma.org/?cm=var&var=hg19,17,10427836,C,T&fts=all	A1708T	--	--	1																																		uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.A1708T|MYH2_uc010coj.2_Intron	0,1	1		benign(0.183)	p.A1708T	NM_001100112	NP_001093582		deleterious(0.01)	0,1	MYH2_HUMAN	MYH2	HGNC	Q9UKX2	MYH2_HUMAN			J3QLR0_HUMAN,E7EX84_HUMAN,C9JIX4_HUMAN		35	5250	-			UPI000012FB6C	1708			Potential.		SNV	MYH2,missense_variant,p.Ala1708Thr,ENST00000245503,NM_017534.5;MYH2,missense_variant,p.Ala1708Thr,ENST00000397183,NM_001100112.1;MYH2,intron_variant,,ENST00000532183,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	uc010coi.2	c.5122G>A	5507/6339	2	2			c.5122G>A						17	SNP	c.(5122-5124)GCA>ACA	24	24			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14	Broad	myosin heavy chain IIa			10427836		0.547	ENSG00000125414	9853	g.chr17:10427836C>T	muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle							84.024381	KEEP	28	12	-1	89	53	28	12	-1	96.872442	89	53	0.213018	1	0	0	0	0	1	0	0	0	--	--		0	T			uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.A1708T|MYH2_uc010coj.2_Intron	69	GBM-06-0749-TP	p.A1708T	C	TCCTGTTCTGCGATTTTTCTG	NM_001100112	NP_001093582	10427836	Q9UKX2	MYH2_HUMAN	0			35	5250	-	T	T			Missense_Mutation	1708			Potential.			
MYH2	0	broad.mit.edu	GRCh37	17	10447064	10447064	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245503.5:c.705C>T	p.Asn235=	p.N235=	ENST00000245503	NM_017534.5	235	aaC/aaT	0			1			A	N	uc010coi.2	protein_coding	YES	CCDS11156.1			705/5826									ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14	c.(703-705)AAC>AAT			Pfam_domain:PF00063,Prints_domain:PR00193,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF314,SMART_domains:SM00242,Superfamily_domains:SSF52540	myosin heavy chain IIa				ENSP00000245503		Aug-40	2.47E-05					3.00E-05		6.06E-05	rs201018335,COSM1520105	Aug-40	.		ENST00000245503	Transcript	1		muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	ENSG00000125414	g.chr17:10447064G>A	7572			LOW								--	--	1																																		uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.N235N|MYH2_uc010coj.2_Silent_p.N235N	0,1	1			p.N235N	NM_001100112	NP_001093582			0,1	MYH2_HUMAN	MYH2	HGNC	Q9UKX2	MYH2_HUMAN			J3QLR0_HUMAN,E7EX84_HUMAN,C9JIX4_HUMAN		8	833	-			UPI000012FB6C	235			Myosin head-like.		SNV	MYH2,synonymous_variant,p.=,ENST00000245503,NM_017534.5;MYH2,synonymous_variant,p.=,ENST00000397183,NM_001100112.1;MYH2,synonymous_variant,p.=,ENST00000532183,;MYH2,downstream_gene_variant,,ENST00000420805,;MYH2,downstream_gene_variant,,ENST00000578017,;CTC-297N7.11,intron_variant,,ENST00000587182,;	uc010coi.2	c.705C>T	1090/6339	2	2			c.705C>T						17	SNP	c.(703-705)AAC>AAT	33	33			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14	Broad	myosin heavy chain IIa			10447064		0.478	ENSG00000125414	9853	g.chr17:10447064G>A	muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle							458.622134	KEEP	101	64	-1	31	29	101	64	-1	474.759672	31	29	0.823171	1	0	0	0	0	0	0	1	0	--	--		0	A			uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.N235N|MYH2_uc010coj.2_Silent_p.N235N	139	GBM-14-0817-TP	p.N235N	G	CGGTCTTGGCGTTGCCAAAGG	NM_001100112	NP_001093582	10447064	Q9UKX2	MYH2_HUMAN	0			8	833	-	A	A			Silent	235			Myosin head-like.			
MYH2	0	broad.mit.edu	GRCh37	17	10430055	10430055	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01	TCGA-15-0742-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245503.5:c.4048C>T	p.Arg1350Trp	p.R1350W	ENST00000245503	NM_017534.5	1350	Cgg/Tgg	0			1			A	R/W	uc010coi.2	protein_coding	YES	CCDS11156.1			4048/5826									ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14	c.(4048-4050)CGG>TGG			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF314,Low_complexity_(Seg):seg,Superfamily_domains:SSF90257	myosin heavy chain IIa				ENSP00000245503		30/40	8.24E-06			0.000116					rs776018379,COSM3402595	30/40	.		ENST00000245503	Transcript	1		muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	ENSG00000125414	g.chr17:10430055G>A	7572			MODERATE		4.01	high	getma.org/?cm=msa&ty=f&p=MYH2_HUMAN&rb=1074&re=1932&var=R1350W	NA	getma.org/?cm=var&var=hg19,17,10430055,G,A&fts=all	R1350W	--	--	1																																		uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R1350W|MYH2_uc010coj.2_Intron	0,1	1		probably_damaging(0.973)	p.R1350W	NM_001100112	NP_001093582		deleterious(0)	0,1	MYH2_HUMAN	MYH2	HGNC	Q9UKX2	MYH2_HUMAN			J3QLR0_HUMAN,E7EX84_HUMAN,C9JIX4_HUMAN		30	4176	-			UPI000012FB6C	1350			Potential.		SNV	MYH2,missense_variant,p.Arg1350Trp,ENST00000245503,NM_017534.5;MYH2,missense_variant,p.Arg1350Trp,ENST00000397183,NM_001100112.1;MYH2,intron_variant,,ENST00000532183,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	uc010coi.2	c.4048C>T	4433/6339	1	1			c.4048C>T						17	SNP	c.(4048-4050)CGG>TGG	64	64			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14	Broad	myosin heavy chain IIa			10430055		0.547	ENSG00000125414	9853	g.chr17:10430055G>A	muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle							246.593376	KEEP	51	49	-1	84	68	51	49	-1	248.398809	84	68	0.401869	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R1350W|MYH2_uc010coj.2_Intron	153	GBM-15-0742-TP	p.R1350W	G	TACTGTTCCCGCAGCAGGTCA	NM_001100112	NP_001093582	10430055	Q9UKX2	MYH2_HUMAN	0			30	4176	-	A	A			Missense_Mutation	1350			Potential.			
MYH2	0	broad.mit.edu	GRCh37	17	10432765	10432765	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01	TCGA-19-2625-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245503.5:c.3151C>T	p.Arg1051Cys	p.R1051C	ENST00000245503	NM_017534.5	1051	Cgc/Tgc	0			1			A	R/C	uc010coi.2	protein_coding	YES	CCDS11156.1			3151/5826									ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14	c.(3151-3153)CGC>TGC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF314,Superfamily_domains:SSF90257	myosin heavy chain IIa				ENSP00000245503		25/40	2.47E-05					4.50E-05			rs748670485,COSM245856	25/40	.		ENST00000245503	Transcript	1		muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	ENSG00000125414	g.chr17:10432765G>A	7572			MODERATE		3.97	high	getma.org/?cm=msa&ty=f&p=MYH2_HUMAN&rb=973&re=1073&var=R1051C	NA	getma.org/?cm=var&var=hg19,17,10432765,G,A&fts=all	R1051C	--	--	1																																		uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R1051C|MYH2_uc010coj.2_Intron	0,1	1		benign(0.032)	p.R1051C	NM_001100112	NP_001093582		deleterious(0.03)	0,1	MYH2_HUMAN	MYH2	HGNC	Q9UKX2	MYH2_HUMAN			J3QLR0_HUMAN,E7EX84_HUMAN,C9JIX4_HUMAN		25	3279	-			UPI000012FB6C	1051			Potential.		SNV	MYH2,missense_variant,p.Arg1051Cys,ENST00000245503,NM_017534.5;MYH2,missense_variant,p.Arg1051Cys,ENST00000397183,NM_001100112.1;MYH2,intron_variant,,ENST00000532183,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	uc010coi.2	c.3151C>T	3536/6339	1	1			c.3151C>T						17	SNP	c.(3151-3153)CGC>TGC	64	64			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14	Broad	myosin heavy chain IIa			10432765		0.383	ENSG00000125414	9853	g.chr17:10432765G>A	muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle							132.626107	KEEP	29	21	-1	61	46	29	21	-1	136.590947	61	46	0.321429	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R1051C|MYH2_uc010coj.2_Intron	165	GBM-19-2625-TP	p.R1051C	G	AGGTCCATGCGAAGTTTCTTT	NM_001100112	NP_001093582	10432765	Q9UKX2	MYH2_HUMAN	0			25	3279	-	A	A			Missense_Mutation	1051			Potential.			
MYH2	0	broad.mit.edu	GRCh37	17	10432722	10432722	+	stop_gained	Nonsense_Mutation	SNP	A	A	T			TCGA-28-5215-01	TCGA-28-5215-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245503.5:c.3194T>A	p.Leu1065Ter	p.L1065*	ENST00000245503	NM_017534.5	1065	tTg/tAg	0			1			T	L/*	uc010coi.2	protein_coding	YES	CCDS11156.1			3194/5826									ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14	c.(3193-3195)TTG>TAG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF314,Superfamily_domains:SSF90257	myosin heavy chain IIa				ENSP00000245503		25/40									COSM3402596	25/40	.		ENST00000245503	Transcript	1		muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	ENSG00000125414	g.chr17:10432722A>T	7572			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,17,10432722,A,T&fts=all	L1065*	--	--	1																																		uc002gml.1_Intron|MYH2_uc002gmp.3_Nonsense_Mutation_p.L1065*|MYH2_uc010coj.2_Intron	1	1			p.L1065*	NM_001100112	NP_001093582			1	MYH2_HUMAN	MYH2	HGNC	Q9UKX2	MYH2_HUMAN			J3QLR0_HUMAN,E7EX84_HUMAN,C9JIX4_HUMAN		25	3322	-			UPI000012FB6C	1065			Potential.		SNV	MYH2,stop_gained,p.Leu1065Ter,ENST00000245503,NM_017534.5;MYH2,stop_gained,p.Leu1065Ter,ENST00000397183,NM_001100112.1;MYH2,intron_variant,,ENST00000532183,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	uc010coi.2	c.3194T>A	3579/6339	5	1			c.3194T>A						17	SNP	c.(3193-3195)TTG>TAG	16	16			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14	Broad	myosin heavy chain IIa			10432722		0.373	ENSG00000125414	9853	g.chr17:10432722A>T	muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle							281.590271	KEEP	59	40	-1	26	29	59	40	-1	284.441037	26	29	0.65035	1	0	0	0	0	0	1	0	0	--	--		0	T			uc002gml.1_Intron|MYH2_uc002gmp.3_Nonsense_Mutation_p.L1065*|MYH2_uc010coj.2_Intron	222	GBM-28-5215-TP	p.L1065*	A	GGCCAACTTCAAGTCACCCTC	NM_001100112	NP_001093582	10432722	Q9UKX2	MYH2_HUMAN	0			25	3322	-	T	T			Nonsense_Mutation	1065			Potential.			
MYH2	0	broad.mit.edu	GRCh37	17	10428377	10428377	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-28-5216-01	TCGA-28-5216-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245503.5:c.4668T>C	p.Ser1556=	p.S1556=	ENST00000245503	NM_017534.5	1556	tcT/tcC	0			1			G	S	uc010coi.2	protein_coding	YES	CCDS11156.1			4668/5826									ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14	c.(4666-4668)TCT>TCC			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF314,Low_complexity_(Seg):seg,Superfamily_domains:SSF90257	myosin heavy chain IIa				ENSP00000245503		34/40									COSM3378069	34/40	.		ENST00000245503	Transcript	1		muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	ENSG00000125414	g.chr17:10428377A>G	7572			LOW								--	--	1																																		uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.S1556S|MYH2_uc010coj.2_Intron	1	1			p.S1556S	NM_001100112	NP_001093582			1	MYH2_HUMAN	MYH2	HGNC	Q9UKX2	MYH2_HUMAN			J3QLR0_HUMAN,E7EX84_HUMAN,C9JIX4_HUMAN		34	4796	-			UPI000012FB6C	1556			Potential.		SNV	MYH2,synonymous_variant,p.=,ENST00000245503,NM_017534.5;MYH2,synonymous_variant,p.=,ENST00000397183,NM_001100112.1;MYH2,intron_variant,,ENST00000532183,;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	uc010coi.2	c.4668T>C	5053/6339	3	3			c.4668T>C						17	SNP	c.(4666-4668)TCT>TCC	60	60			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14	Broad	myosin heavy chain IIa			10428377		0.388	ENSG00000125414	9853	g.chr17:10428377A>G	muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle							738.704703	KEEP	121	96	-1	27	33	121	96	-1	763.800598	27	33	0.845455	1	0	0	0	0	0	0	1	0	--	--		0	G			uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.S1556S|MYH2_uc010coj.2_Intron	223	GBM-28-5216-TP	p.S1556S	A	CATGTTCAAGAGATGCCTTAA	NM_001100112	NP_001093582	10428377	Q9UKX2	MYH2_HUMAN	0			34	4796	-	G	G			Silent	1556			Potential.			
MYH3	4621	broad.mit.edu	GRCh37	17	10537429	10537429	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0881-01	TCGA-06-0881-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000583535.1:c.4427G>A	p.Arg1476His	p.R1476H	ENST00000583535	NM_002470.3	1476	cGc/cAc	0			1			T	R/H	uc002gmq.1	protein_coding	YES	CCDS11157.1			4427/5823									ovary(4)|central_nervous_system(2)|pancreas(1)	7	c.(4426-4428)CGC>CAC			hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF297,Pfam_domain:PF01576,Superfamily_domains:SSF90257	myosin, heavy chain 3, skeletal muscle,				ENSP00000464317		32/41	1.65E-05							0.000121	rs757688078,COSM3402598	32/41	.		ENST00000583535	Transcript	1		muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	ENSG00000109063	g.chr17:10537429C>T	7573			MODERATE		3.715	high	getma.org/?cm=msa&ty=f&p=MYH3_HUMAN&rb=1069&re=1927&var=R1476H	NA	getma.org/?cm=var&var=hg19,17,10537429,C,T&fts=all	R1476H	--	--	1																																			0,1	1		benign(0.003)	p.R1476H	NM_002470	NP_002461		deleterious(0.01)	0,1	MYH3_HUMAN	MYH3	HGNC	P11055	MYH3_HUMAN					31	4504	-			UPI000013C892	1476			Potential.		SNV	MYH3,missense_variant,p.Arg1476His,ENST00000583535,NM_002470.3;MYH3,missense_variant,p.Arg1476His,ENST00000226209,;MYH3,upstream_gene_variant,,ENST00000577963,;MYH3,upstream_gene_variant,,ENST00000579928,;	uc002gmq.1	c.4427G>A	4515/6037	1	1			c.4427G>A						17	SNP	c.(4426-4428)CGC>CAC	15	15			ovary(4)|central_nervous_system(2)|pancreas(1)	7	Broad	myosin, heavy chain 3, skeletal muscle,			10537429		0.493	ENSG00000109063	9854	g.chr17:10537429C>T	muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity							-30.938691	KEEP	8	2	-1	128	96	8	2	-1	19.582923	128	96	0.044053	1	0	0	0	0	1	0	0	0	--	--		0	T				76	GBM-06-0881-TP	p.R1476H	C	GCTCAAGGAGCGGGACTCCTT	NM_002470	NP_002461	10537429	P11055	MYH3_HUMAN	0			31	4504	-	T	T			Missense_Mutation	1476			Potential.			
MYH3	0	broad.mit.edu	GRCh37	17	10533648	10533648	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000583535.1:c.5414C>T	p.Ala1805Val	p.A1805V	ENST00000583535	NM_002470.3	1805	gCg/gTg	0			1			A	A/V	uc002gmq.1	protein_coding	YES	CCDS11157.1			5414/5823									ovary(4)|central_nervous_system(2)|pancreas(1)	7	c.(5413-5415)GCG>GTG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF297,Pfam_domain:PF01576,Superfamily_domains:SSF57997	myosin, heavy chain 3, skeletal muscle,				ENSP00000464317		37/41	1.65E-05					3.00E-05			rs781063695,COSM3402597	37/41	.		ENST00000583535	Transcript	1		muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	ENSG00000109063	g.chr17:10533648G>A	7573			MODERATE		2.55	medium	getma.org/?cm=msa&ty=f&p=MYH3_HUMAN&rb=1069&re=1927&var=A1805V	NA	getma.org/?cm=var&var=hg19,17,10533648,G,A&fts=all	A1805V	--	--	1																																			0,1	1		probably_damaging(0.992)	p.A1805V	NM_002470	NP_002461		deleterious(0.01)	0,1	MYH3_HUMAN	MYH3	HGNC	P11055	MYH3_HUMAN					36	5491	-			UPI000013C892	1805			Potential.		SNV	MYH3,missense_variant,p.Ala1805Val,ENST00000583535,NM_002470.3;MYH3,missense_variant,p.Ala1805Val,ENST00000226209,;MYH3,upstream_gene_variant,,ENST00000577963,;MYH3,upstream_gene_variant,,ENST00000579928,;	uc002gmq.1	c.5414C>T	5502/6037	2	2			c.5414C>T						17	SNP	c.(5413-5415)GCG>GTG	32	32			ovary(4)|central_nervous_system(2)|pancreas(1)	7	Broad	myosin, heavy chain 3, skeletal muscle,			10533648		0.607	ENSG00000109063	9854	g.chr17:10533648G>A	muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity							111.512109	KEEP	31	22	-1	68	49	31	22	-1	115.796117	68	49	0.311111	1	0	0	0	0	1	0	0	0	--	--		0	A				125	GBM-12-3649-TP	p.A1805V	G	GCCCTTCAGCGCCAGCTGCTC	NM_002470	NP_002461	10533648	P11055	MYH3_HUMAN	0			36	5491	-	A	A			Missense_Mutation	1805			Potential.			
MYH4	0	broad.mit.edu	GRCh37	17	10369590	10369590	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A			TCGA-14-0790-01	TCGA-14-0790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255381.2:c.348C>T	p.Tyr116=	p.Y116=	ENST00000255381	NM_017533.2	116	taC/taT	0			1			A	Y	uc002gmn.2	protein_coding	YES	CCDS11154.1			348/5820									ovary(10)|skin(2)|central_nervous_system(1)	13	c.(346-348)TAC>TAT			Pfam_domain:PF00063,Prints_domain:PR00193,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF278,SMART_domains:SM00242,Superfamily_domains:SSF52540	myosin, heavy polypeptide 4, skeletal muscle				ENSP00000255381		Apr-40	8.24E-06					1.50E-05			rs750137859,COSM2925039	Apr-40	.		ENST00000255381	Transcript			muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	ENSG00000264424	g.chr17:10369590G>A	7574			LOW								--	--	1																																		uc002gml.1_Intron	0,1	1			p.Y116Y	NM_017533	NP_060003			0,1	MYH4_HUMAN	MYH4	HGNC	Q9Y623	MYH4_HUMAN					4	459	-			UPI000013CEAB	116			Myosin head-like.		SNV	MYH4,splice_region_variant,p.=,ENST00000255381,NM_017533.2;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	uc002gmn.2	c.348C>T	459/6016	2	2			c.348C>T						17	SNP	c.(346-348)TAC>TAT	43	43			ovary(10)|skin(2)|central_nervous_system(1)	13	Broad	myosin, heavy polypeptide 4, skeletal muscle			10369590		0.433	ENSG00000264424	9855	g.chr17:10369590G>A	muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle							186.657743	KEEP	37	29	-1	43	48	37	29	-1	187.110308	43	48	0.438849	1	0	0	0	0	0	0	1	0	--	--		0	A			uc002gml.1_Intron	137	GBM-14-0790-TP	p.Y116Y	G	GGGTGCTCACGTAGATCATCC	NM_017533	NP_060003	10369590	Q9Y623	MYH4_HUMAN	0			4	459	-	A	A			Silent	116			Myosin head-like.			
MYH4	0	broad.mit.edu	GRCh37	17	10358321	10358321	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs144778193	by1000genomes	TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255381.2:c.2372G>A	p.Arg791His	p.R791H	ENST00000255381	NM_017533.2	791	cGc/cAc	0		T:0	1	T:0		T	R/H	uc002gmn.2	protein_coding	YES	CCDS11154.1			2372/5820									ovary(10)|skin(2)|central_nervous_system(1)	13	c.(2371-2373)CGC>CAC			Gene3D:1wdcA00,PROSITE_profiles:PS50096,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF278,Superfamily_domains:SSF52540	myosin, heavy polypeptide 4, skeletal muscle		T:0.001		ENSP00000255381	T:0	21/40	3.29E-05			0.000116		4.50E-05			rs144778193,COSM975253	21/40	.		ENST00000255381	Transcript		T:0.0002	muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	ENSG00000264424	g.chr17:10358321C>T	7574			MODERATE		1.63	low	getma.org/?cm=msa&ty=f&p=MYH4_HUMAN&rb=785&re=814&var=R791H	getma.org/pdb.php?prot=MYH4_HUMAN&from=785&to=814&var=R791H	getma.org/?cm=var&var=hg19,17,10358321,C,T&fts=all	R791H	--	--	1																																		uc002gml.1_Intron	0,1	1		benign(0.005)	p.R791H	NM_017533	NP_060003	T:0	tolerated(0.19)	0,1	MYH4_HUMAN	MYH4	HGNC	Q9Y623	MYH4_HUMAN					21	2483	-			UPI000013CEAB	791			IQ.		SNV	MYH4,missense_variant,p.Arg791His,ENST00000255381,NM_017533.2;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	uc002gmn.2	c.2372G>A	2483/6016	2	2			c.2372G>A						17	SNP	c.(2371-2373)CGC>CAC	25	25			ovary(10)|skin(2)|central_nervous_system(1)	13	Broad	myosin, heavy polypeptide 4, skeletal muscle			10358321		0.463	ENSG00000264424	9855	g.chr17:10358321C>T	muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle							-8.501206	KEEP	2	2	-1	36	44	2	2	-1	6.710637	36	44	0.054795	1	0	0	0	0	1	0	0	0	--	--		0	T			uc002gml.1_Intron	159	GBM-19-1390-TP	p.R791H	C	GGCTTGAGTGCGCGTGATGAG	NM_017533	NP_060003	10358321	Q9Y623	MYH4_HUMAN	0			21	2483	-	T	T			Missense_Mutation	791			IQ.			
MYH4	0	broad.mit.edu	GRCh37	17	10350506	10350506	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-19-2629-01	TCGA-19-2629-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255381.2:c.4993A>T	p.Ile1665Phe	p.I1665F	ENST00000255381	NM_017533.2	1665	Atc/Ttc	0			1			A	I/F	uc002gmn.2	protein_coding	YES	CCDS11154.1			4993/5820									ovary(10)|skin(2)|central_nervous_system(1)	13	c.(4993-4995)ATC>TTC			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF278	myosin, heavy polypeptide 4, skeletal muscle				ENSP00000255381		35/40									COSM3402582	35/40	.		ENST00000255381	Transcript			muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	ENSG00000264424	g.chr17:10350506T>A	7574			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=MYH4_HUMAN&rb=1072&re=1930&var=I1665F	NA	getma.org/?cm=var&var=hg19,17,10350506,T,A&fts=all	I1665F	--	--	1																																		uc002gml.1_Intron	1	1		benign(0.051)	p.I1665F	NM_017533	NP_060003		tolerated(0.1)	1	MYH4_HUMAN	MYH4	HGNC	Q9Y623	MYH4_HUMAN					35	5104	-			UPI000013CEAB	1665			Potential.		SNV	MYH4,missense_variant,p.Ile1665Phe,ENST00000255381,NM_017533.2;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	uc002gmn.2	c.4993A>T	5104/6016	1	1			c.4993A>T						17	SNP	c.(4993-4995)ATC>TTC	54	54			ovary(10)|skin(2)|central_nervous_system(1)	13	Broad	myosin, heavy polypeptide 4, skeletal muscle			10350506		0.468	ENSG00000264424	9855	g.chr17:10350506T>A	muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle							37.514791	KEEP	10	9	-1	51	49	10	9	-1	49.822192	51	49	0.155963	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002gml.1_Intron	166	GBM-19-2629-TP	p.I1665F	T	TGGCCTCTGATGGCATCATCC	NM_017533	NP_060003	10350506	Q9Y623	MYH4_HUMAN	0			35	5104	-	A	A			Missense_Mutation	1665			Potential.			
MYH4	0	broad.mit.edu	GRCh37	17	10358985	10358985	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-41-2572-01	TCGA-41-2572-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255381.2:c.2120G>T	p.Arg707Leu	p.R707L	ENST00000255381	NM_017533.2	707	cGc/cTc	0			1			A	R/L	uc002gmn.2	protein_coding	YES	CCDS11154.1			2120/5820									ovary(10)|skin(2)|central_nervous_system(1)	13	c.(2119-2121)CGC>CTC			Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF278,SMART_domains:SM00242,Superfamily_domains:SSF52540	myosin, heavy polypeptide 4, skeletal muscle				ENSP00000255381		19/40	8.24E-06							6.06E-05	rs201207535,COSM3402584	19/40	.		ENST00000255381	Transcript			muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	ENSG00000264424	g.chr17:10358985C>A	7574			MODERATE		3.835	high	getma.org/?cm=msa&ty=f&p=MYH4_HUMAN&rb=88&re=770&var=R707L	getma.org/pdb.php?prot=MYH4_HUMAN&from=88&to=770&var=R707L	getma.org/?cm=var&var=hg19,17,10358985,C,A&fts=all	R707L	--	--	1																																		uc002gml.1_Intron	0,1	1		benign(0.018)	p.R707L	NM_017533	NP_060003		deleterious(0)	0,1	MYH4_HUMAN	MYH4	HGNC	Q9Y623	MYH4_HUMAN					19	2231	-			UPI000013CEAB	707			Myosin head-like.		SNV	MYH4,missense_variant,p.Arg707Leu,ENST00000255381,NM_017533.2;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	uc002gmn.2	c.2120G>T	2231/6016	2	2			c.2120G>T						17	SNP	c.(2119-2121)CGC>CTC	17	17			ovary(10)|skin(2)|central_nervous_system(1)	13	Broad	myosin, heavy polypeptide 4, skeletal muscle			10358985		0.468	ENSG00000264424	9855	g.chr17:10358985C>A	muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle							-20.876095	KEEP	2	1	0.333333333	63	75	2	1	0.333333333	7.120906	63	75	0.026549	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002gml.1_Intron	251	GBM-41-2572-TP	p.R707L	C	CCTGCAGATGCGGATGCCTTC	NM_017533	NP_060003	10358985	Q9Y623	MYH4_HUMAN	0			19	2231	-	A	A			Missense_Mutation	707			Myosin head-like.			
MYH4	4622		GRCh37	17	10352234	10352234	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000255381.2:c.4312C>T	p.Arg1438Ter	p.R1438*	ENST00000255381	NM_017533.2	1438	Cga/Tga	0																																																																																																																																																																																																																																												
MYH6	4624	broad.mit.edu	GRCh37	14	23858709	23858709	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-02-0003-01	TCGA-02-0003-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000405093.3:c.3871C>A	p.Arg1291=	p.R1291=	ENST00000405093	NM_002471.3	1291	Cgg/Agg	0			1			T	R	uc001wjv.2	protein_coding		CCDS9600.1			3871/5820									pancreas(2)|ovary(1)|skin(1)	4	c.(3871-3873)CGG>AGG			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF260,Superfamily_domains:SSF90257	myosin heavy chain 6				ENSP00000348634		27/38									COSM2148920	27/38	.		ENST00000356287	Transcript	1		adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	ENSG00000197616	g.chr14:23858709G>T	7576			LOW								--	--	1																																		uc010tnn.1_5'Flank|MIR208A_hsa-mir-208a|MI0000251_5'Flank	1				p.R1291R	NM_002471	NP_002462			1	MYH6_HUMAN	MYH6	HGNC	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	Q9UQV1_HUMAN,A8CLL2_HUMAN		28	3938	-	all_cancers(95;2.54e-05)		UPI0000160969	1291			Potential.		SNV	MYH6,synonymous_variant,p.=,ENST00000405093,NM_002471.3;MYH6,synonymous_variant,p.=,ENST00000356287,;MIR208A,upstream_gene_variant,,ENST00000362287,;	uc001wjv.2	c.3871C>A	3901/5871	1	1			c.3871C>A						14	SNP	c.(3871-3873)CGG>AGG	1	1			pancreas(2)|ovary(1)|skin(1)	4	Broad	myosin heavy chain 6			23858709		0.582	ENSG00000197616	9856	g.chr14:23858709G>T	adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle							258.870841	KEEP	43	50	0.462365591	59	55	43	50	0.462365591	259.014869	59	55	0.469613	1	0	0	0	0	0	0	1	0	--	--		0	T			uc010tnn.1_5'Flank|MIR208A_hsa-mir-208a|MI0000251_5'Flank	1	GBM-02-0003-TP	p.R1291R	G	TCTAGCTGCCGGGCCAACTCT	NM_002471	NP_002462	23858709	P13533	MYH6_HUMAN	0		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	28	3938	-	T	T	all_cancers(95;2.54e-05)		Silent	1291			Potential.			
MYH6	0	broad.mit.edu	GRCh37	14	23861788	23861789	+	frameshift_variant	Frame_Shift_Del	DEL	TC	TC	-			TCGA-19-4068-01	TCGA-19-4068-01	TC	TC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356287.3:c.3324_3325delGA	p.Lys1109ThrfsTer24	p.K1109Tfs*24	ENST00000356287		1108	aaGAaa/aaaa	0			1			-	KK/KX	uc001wjv.2	protein_coding		CCDS9600.1			3324-3325/5820									pancreas(2)|ovary(1)|skin(1)	4	c.(3322-3327)AAGAAAfs			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF260,Low_complexity_(Seg):seg	myosin heavy chain 6				ENSP00000348634		24/38									COSM2156474	24/38	.		ENST00000356287	Transcript	1		adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	ENSG00000197616	g.chr14:23861788_23861789delTC	7576			HIGH								--	--	1																																			1				p.K1108fs	NM_002471	NP_002462			1	MYH6_HUMAN	MYH6	HGNC	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	Q9UQV1_HUMAN,A8CLL2_HUMAN		25	3391_3392	-	all_cancers(95;2.54e-05)		UPI0000160969	1108_1109			Potential.		deletion	MYH6,frameshift_variant,p.Lys1109ThrfsTer24,ENST00000405093,NM_002471.3;MYH6,frameshift_variant,p.Lys1109ThrfsTer24,ENST00000356287,;MIR208A,upstream_gene_variant,,ENST00000362287,;	uc001wjv.2	c.3324_3325delGA	3354-3355/5871	5	5			c.3324_3325delGA						14	DEL	c.(3322-3327)AAGAAAfs	56	56			pancreas(2)|ovary(1)|skin(1)	4	Broad	myosin heavy chain 6			23861789		0.505	ENSG00000197616	9856	g.chr14:23861788_23861789delTC	adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle																				0.4	1	1	0	1	0	0	0	0	0	--	--		0	-				168	GBM-19-4068-TP	p.K1108fs	TC	TCCTTCAGTTTCTTCTGTAGTT	NM_002471	NP_002462	23861788	P13533	MYH6_HUMAN	0		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	25	3391_3392	-	-	-	all_cancers(95;2.54e-05)		Frame_Shift_Del	1108_1109			Potential.			
MYH6	0	broad.mit.edu	GRCh37	14	23869930	23869930	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356287.3:c.1398C>T	p.Phe466=	p.F466=	ENST00000356287		466	ttC/ttT	0			1			A	F	uc001wjv.2	protein_coding		CCDS9600.1			1398/5820									pancreas(2)|ovary(1)|skin(1)	4	c.(1396-1398)TTC>TTT			Pfam_domain:PF00063,Prints_domain:PR00193,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF260,SMART_domains:SM00242,Superfamily_domains:SSF52540	myosin heavy chain 6				ENSP00000348634		Dec-38	2.47E-05	0.000192				1.50E-05			rs745448722,COSM954730	Dec-38	.		ENST00000356287	Transcript	1		adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	ENSG00000197616	g.chr14:23869930G>A	7576			LOW								--	--	1																																		MYH6_uc010akp.1_Silent_p.F466F	0,1				p.F466F	NM_002471	NP_002462			0,1	MYH6_HUMAN	MYH6	HGNC	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	Q9UQV1_HUMAN,A8CLL2_HUMAN		13	1465	-	all_cancers(95;2.54e-05)		UPI0000160969	466			Myosin head-like.		SNV	MYH6,synonymous_variant,p.=,ENST00000405093,NM_002471.3;MYH6,synonymous_variant,p.=,ENST00000356287,;MYH6,non_coding_transcript_exon_variant,,ENST00000557461,;	uc001wjv.2	c.1398C>T	1428/5871	2	2			c.1398C>T						14	SNP	c.(1396-1398)TTC>TTT	30	30			pancreas(2)|ovary(1)|skin(1)	4	Broad	myosin heavy chain 6			23869930		0.438	ENSG00000197616	9856	g.chr14:23869930G>A	adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle							28.643516	KEEP	9	6	-1	29	28	9	6	-1	33.878065	29	28	0.203125	1	0	0	0	0	0	0	1	0	--	--		0	A			MYH6_uc010akp.1_Silent_p.F466F	232	GBM-32-1982-TP	p.F466F	G	CGAAGATCTCGAAGCCAGCGA	NM_002471	NP_002462	23869930	P13533	MYH6_HUMAN	0		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	13	1465	-	A	A	all_cancers(95;2.54e-05)		Silent	466			Myosin head-like.			
MYH7	0	broad.mit.edu	GRCh37	14	23902877	23902877	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-2632-01	TCGA-32-2632-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355349.3:c.65A>G	p.Glu22Gly	p.E22G	ENST00000355349	NM_000257.2	22	gAg/gGg	0			1			C	E/G	uc001wjx.2	protein_coding	YES	CCDS9601.1			65/5808									ovary(3)|skin(1)	4	c.(64-66)GAG>GGG			hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF279	myosin, heavy chain 7, cardiac muscle, beta				ENSP00000347507		Mar-40									COSM3401246	Mar-40	.		ENST00000355349	Transcript	1		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	ENSG00000092054	g.chr14:23902877T>C	7577			MODERATE		3.23	medium	getma.org/?cm=msa&ty=f&p=MYH7_HUMAN&rb=1&re=780&var=E22G	getma.org/pdb.php?prot=MYH7_HUMAN&from=1&to=780&var=E22G	getma.org/?cm=var&var=hg19,14,23902877,T,C&fts=all	E22G	--	--	1																																			1	1		possibly_damaging(0.783)	p.E22G	NM_000257	NP_000248		deleterious(0)	1	MYH7_HUMAN	MYH7	HGNC	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	Q59EV3_HUMAN,L0L5E6_HUMAN,A8CLN2_HUMAN,A8CLL2_HUMAN,A6N931_HUMAN,A6N930_HUMAN		3	171	-	all_cancers(95;2.54e-05)		UPI000014019B	22			Myosin head-like.		SNV	MYH7,missense_variant,p.Glu22Gly,ENST00000355349,NM_000257.2;	uc001wjx.2	c.65A>G	228/6087	3	3			c.65A>G						14	SNP	c.(64-66)GAG>GGG	61	61			ovary(3)|skin(1)	4	Broad	myosin, heavy chain 7, cardiac muscle, beta			23902877		0.577	ENSG00000092054	9857	g.chr14:23902877T>C	adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle							-24.722137	KEEP	4	1	-1	82	74	4	1	-1	7.825703	82	74	0.029851	1	0	0	0	0	1	0	0	0	--	--		0	C				240	GBM-32-2632-TP	p.E22G	T	TTCTAGCCGCTCCTTCTCTGA	NM_000257	NP_000248	23902877	P12883	MYH7_HUMAN	0		GBM - Glioblastoma multiforme(265;0.00725)	3	171	-	C	C	all_cancers(95;2.54e-05)		Missense_Mutation	22			Myosin head-like.			
MYH7	0	broad.mit.edu	GRCh37	14	23898235	23898235	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-32-4210-01	TCGA-32-4210-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355349.3:c.1336A>C	p.Thr446Pro	p.T446P	ENST00000355349	NM_000257.2	446	Acc/Ccc	0			1			G	T/P	uc001wjx.2	protein_coding	YES	CCDS9601.1			1336/5808									ovary(3)|skin(1)	4	c.(1336-1338)ACC>CCC			Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF279,SMART_domains:SM00242,Superfamily_domains:SSF52540	myosin, heavy chain 7, cardiac muscle, beta				ENSP00000347507		14/40									COSM3747955	14/40	.		ENST00000355349	Transcript	1		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	ENSG00000092054	g.chr14:23898235T>G	7577			MODERATE		3.295	medium	getma.org/?cm=msa&ty=f&p=MYH7_HUMAN&rb=87&re=766&var=T446P	getma.org/pdb.php?prot=MYH7_HUMAN&from=87&to=766&var=T446P	getma.org/?cm=var&var=hg19,14,23898235,T,G&fts=all	T446P	--	--	1																																			1	1		possibly_damaging(0.632)	p.T446P	NM_000257	NP_000248		tolerated(0.14)	1	MYH7_HUMAN	MYH7	HGNC	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	Q59EV3_HUMAN,L0L5E6_HUMAN,A8CLN2_HUMAN,A8CLL2_HUMAN,A6N931_HUMAN,A6N930_HUMAN		14	1442	-	all_cancers(95;2.54e-05)		UPI000014019B	446			Myosin head-like.		SNV	MYH7,missense_variant,p.Thr446Pro,ENST00000355349,NM_000257.2;	uc001wjx.2	c.1336A>C	1499/6087	3	3			c.1336A>C						14	SNP	c.(1336-1338)ACC>CCC	51	51			ovary(3)|skin(1)	4	Broad	myosin, heavy chain 7, cardiac muscle, beta			23898235		0.567	ENSG00000092054	9857	g.chr14:23898235T>G	adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle							-12.534805	KEEP	0	14	-1	31	69	0	14	-1	7.051759	31	69	0.07	1	0	0	0	0	1	0	0	0	--	--		0	G				245	GBM-32-4210-TP	p.T446P	T	GTCTCCAGGGTGGCATTGATG	NM_000257	NP_000248	23898235	P12883	MYH7_HUMAN	0		GBM - Glioblastoma multiforme(265;0.00725)	14	1442	-	G	G	all_cancers(95;2.54e-05)		Missense_Mutation	446			Myosin head-like.			
MYH7	0	broad.mit.edu	GRCh37	14	23889445	23889446	+	splice_region_variant,intron_variant	Splice_Region	INS	-	-	G	rs45504498		TCGA-32-4210-01	TCGA-32-4210-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355349.3:c.3337-3dupC		p.X1113_splice	ENST00000355349	NM_000257.2			0		G:0.0144	1	G:0.0173		G		uc001wjx.2	protein_coding	YES	CCDS9601.1			-/5808						benign,likely_benign			ovary(3)|skin(1)	4	c.e27-1				myosin, heavy chain 7, cardiac muscle, beta		G:0.0565		ENSP00000347507	G:0.0388		0.00221	0.00243	0.000778	0.00264	0.000197	0.00268	0.00396	0.00235	rs564923630,COSM432905		common_variant		ENST00000355349	Transcript	1	G:0.0403	adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	ENSG00000092054	g.chr14:23889445_23889446insG	7577			LOW	26/39							--	--	1																																		MIR208B_hsa-mir-208b|MI0005570_5'Flank	1,1	1			p.A1113_splice	NM_000257	NP_000248	G:0.0767		0,1	MYH7_HUMAN	MYH7	HGNC	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	Q59EV3_HUMAN,L0L5E6_HUMAN,A8CLN2_HUMAN,A8CLL2_HUMAN,A6N931_HUMAN,A6N930_HUMAN		27	3443	-	all_cancers(95;2.54e-05)		UPI000014019B						insertion	MYH7,splice_region_variant,,ENST00000355349,NM_000257.2;MIR208B,upstream_gene_variant,,ENST00000401172,;CTD-2201G16.1,downstream_gene_variant,,ENST00000557368,;	uc001wjx.2	c.3337_splice	-/6087	5	5			c.3337_splice						14	INS	c.e27-1	8	8			ovary(3)|skin(1)	4	Broad	myosin, heavy chain 7, cardiac muscle, beta			23889446		0.545	ENSG00000092054	9857	g.chr14:23889445_23889446insG	adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle																				0.33	1	0	0	1	1	0	0	0	1	--	--		0	G			MIR208B_hsa-mir-208b|MI0005570_5'Flank	245	GBM-32-4210-TP	p.A1113_splice	-	GATGCGTGCCTGGTCAGACACA	NM_000257	NP_000248	23889445	P12883	MYH7_HUMAN	0		GBM - Glioblastoma multiforme(265;0.00725)	27	3443	-	G	G	all_cancers(95;2.54e-05)		Splice_Site							
MYH7B	57644	broad.mit.edu	GRCh37	20	33586908	33586908	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01	TCGA-06-0939-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262873.7:c.4366G>A	p.Ala1456Thr	p.A1456T	ENST00000262873	NM_020884.3	1456	Gcc/Acc	0			1			A	A/T	uc002xbi.1	protein_coding	YES	CCDS42869.1			4366/5952									ovary(1)|breast(1)	2	c.(4366-4368)GCC>ACC			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF310	myosin, heavy polypeptide 7B, cardiac muscle,				ENSP00000262873		34/43									COSM3405036	34/43	.		ENST00000262873	Transcript	1			membrane|myosin filament	actin binding|ATP binding|motor activity	ENSG00000078814	g.chr20:33586908G>A	15906			MODERATE		1.885	low	getma.org/?cm=msa&ty=f&p=MYH7B_HUMAN&rb=1075&re=1933&var=A1414T	NA	getma.org/?cm=var&var=hg19,20,33586908,G,A&fts=all	A1414T	--	--	1																																			1	1		possibly_damaging(0.641)	p.A1456T	NM_020884	NP_065935			1	MYH7B_HUMAN	MYH7B	HGNC	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)				34	4458	+			UPI0000253BD4	1414			Potential.		SNV	MYH7B,missense_variant,p.Ala1456Thr,ENST00000262873,NM_020884.3;TRPC4AP,downstream_gene_variant,,ENST00000252015,;TRPC4AP,downstream_gene_variant,,ENST00000451813,NM_015638.2,NM_199368.1;TRPC4AP,downstream_gene_variant,,ENST00000432634,;TRPC4AP,downstream_gene_variant,,ENST00000539834,;MYH7B,upstream_gene_variant,,ENST00000435272,;MYH7B,upstream_gene_variant,,ENST00000456649,;MYH7B,upstream_gene_variant,,ENST00000446156,;MYH7B,upstream_gene_variant,,ENST00000433934,;MYH7B,upstream_gene_variant,,ENST00000453028,;	uc002xbi.1	c.4366G>A	4458/6293	2	2			c.4366G>A						20	SNP	c.(4366-4368)GCC>ACC	32	32			ovary(1)|breast(1)	2	Broad	myosin, heavy polypeptide 7B, cardiac muscle,			33586908		0.607	ENSG00000078814	9858	g.chr20:33586908G>A		membrane|myosin filament	actin binding|ATP binding|motor activity							-5.1762	KEEP	1	2	-1	33	43	1	2	-1	6.835341	33	43	0.052632	1	0	0	0	0	1	0	0	0	--	--		0	A				78	GBM-06-0939-TP	p.A1456T	G	CGTGGAGGCTGCCAACGCCAA	NM_020884	NP_065935	33586908	A7E2Y1	MYH7B_HUMAN	0	BRCA - Breast invasive adenocarcinoma(18;0.00691)		34	4458	+	A	A			Missense_Mutation	1414			Potential.			
MYH7B	57644	broad.mit.edu	GRCh37	20	33584258	33584258	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-6388-01	TCGA-06-6388-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262873.7:c.3179A>G	p.Gln1060Arg	p.Q1060R	ENST00000262873	NM_020884.3	1060	cAg/cGg	0			1			G	Q/R	uc002xbi.1	protein_coding	YES	CCDS42869.1			3179/5952									ovary(1)|breast(1)	2	c.(3178-3180)CAG>CGG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF310,Superfamily_domains:SSF90257	myosin, heavy polypeptide 7B, cardiac muscle,				ENSP00000262873		27/43									COSM3405035	27/43	.		ENST00000262873	Transcript	1			membrane|myosin filament	actin binding|ATP binding|motor activity	ENSG00000078814	g.chr20:33584258A>G	15906			MODERATE		2.8	medium	getma.org/?cm=msa&ty=f&p=MYH7B_HUMAN&rb=974&re=1074&var=Q1018R	NA	getma.org/?cm=var&var=hg19,20,33584258,A,G&fts=all	Q1018R	--	--	1																																			1	1		benign(0.058)	p.Q1060R	NM_020884	NP_065935			1	MYH7B_HUMAN	MYH7B	HGNC	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)				27	3271	+			UPI0000253BD4	1018			Potential.		SNV	MYH7B,missense_variant,p.Gln1060Arg,ENST00000262873,NM_020884.3;MYH7B,upstream_gene_variant,,ENST00000435272,;MYH7B,upstream_gene_variant,,ENST00000456649,;MYH7B,upstream_gene_variant,,ENST00000446156,;MYH7B,upstream_gene_variant,,ENST00000433934,;MYH7B,upstream_gene_variant,,ENST00000453028,;	uc002xbi.1	c.3179A>G	3271/6293	4	4			c.3179A>G						20	SNP	c.(3178-3180)CAG>CGG	26	26			ovary(1)|breast(1)	2	Broad	myosin, heavy polypeptide 7B, cardiac muscle,			33584258		0.672	ENSG00000078814	9858	g.chr20:33584258A>G		membrane|myosin filament	actin binding|ATP binding|motor activity							-0.203051	KEEP	1	2	-1	20	19	1	2	-1	6.412788	20	19	0.081081	1	0	0	0	0	1	0	0	0	--	--		0	G				104	GBM-06-6388-TP	p.Q1060R	A	GGTGACCTGCAGGCCGAGGAG	NM_020884	NP_065935	33584258	A7E2Y1	MYH7B_HUMAN	0	BRCA - Breast invasive adenocarcinoma(18;0.00691)		27	3271	+	G	G			Missense_Mutation	1018			Potential.			
MYH8	4626	broad.mit.edu	GRCh37	17	10315706	10315706	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0188-01	TCGA-06-0188-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000403437.2:c.1397C>T	p.Ala466Val	p.A466V	ENST00000403437	NM_002472.2	466	gCt/gTt	0		A:0.0008	1	A:0		A	A/V	uc002gmm.2	protein_coding	YES	CCDS11153.1			1397/5814									skin(6)|ovary(3)|breast(2)	11	c.(1396-1398)GCT>GTT			Pfam_domain:PF00063,Prints_domain:PR00193,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF340,SMART_domains:SM00242,Superfamily_domains:SSF52540	myosin, heavy chain 8, skeletal muscle,		A:0		ENSP00000384330	A:0	14/40	8.24E-06	9.61E-05							rs554419599,COSM2150563	14/40	.	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	ENST00000403437	Transcript	1	A:0.0002	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	ENSG00000133020	g.chr17:10315706G>A	7578			MODERATE		4.405	high	getma.org/?cm=msa&ty=f&p=MYH8_HUMAN&rb=90&re=769&var=A466V	getma.org/pdb.php?prot=MYH8_HUMAN&from=90&to=769&var=A466V	getma.org/?cm=var&var=hg19,17,10315706,G,A&fts=all	A466V	--	--	1																																		uc002gml.1_Intron	0,1	1		probably_damaging(0.911)	p.A466V	NM_002472	NP_002463	A:0	deleterious(0)	0,1	MYH8_HUMAN	MYH8	HGNC	P13535	MYH8_HUMAN					14	1492	-			UPI000012FB7D	466			Myosin head-like.		SNV	MYH8,missense_variant,p.Ala466Val,ENST00000403437,NM_002472.2;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	uc002gmm.2	c.1397C>T	1492/6041	2	2			c.1397C>T						17	SNP	c.(1396-1398)GCT>GTT	45	45			skin(6)|ovary(3)|breast(2)	11	Broad	myosin, heavy chain 8, skeletal muscle,			10315706	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	0.438	ENSG00000133020	9859	g.chr17:10315706G>A	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle							522.74466	KEEP	80	103	-1	59	50	80	103	-1	525.623552	59	50	0.615385	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002gml.1_Intron	41	GBM-06-0188-TP	p.A466V	G	TTCAAAGCCAGCAATGTCCAA	NM_002472	NP_002463	10315706	P13535	MYH8_HUMAN	0			14	1492	-	A	A			Missense_Mutation	466			Myosin head-like.			
MYH8	4626	broad.mit.edu	GRCh37	17	10300223	10300223	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs150344258		TCGA-06-0190-01	TCGA-06-0190-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000403437.2:c.4259C>T	p.Thr1420Met	p.T1420M	ENST00000403437	NM_002472.2	1420	aCg/aTg	0	A:0.0005		1			A	T/M	uc002gmm.2	protein_coding	YES	CCDS11153.1			4259/5814									skin(6)|ovary(3)|breast(2)	11	c.(4258-4260)ACG>ATG			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF340	myosin, heavy chain 8, skeletal muscle,			A:0	ENSP00000384330		31/40	1.65E-05	0.000192							rs150344258,COSM3402578	31/40	.	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	ENST00000403437	Transcript	1		muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	ENSG00000133020	g.chr17:10300223G>A	7578			MODERATE		3.29	medium	getma.org/?cm=msa&ty=f&p=MYH8_HUMAN&rb=1071&re=1929&var=T1420M	NA	getma.org/?cm=var&var=hg19,17,10300223,G,A&fts=all	T1420M	--	--	1																																		uc002gml.1_Intron	0,1	1		probably_damaging(0.964)	p.T1420M	NM_002472	NP_002463		deleterious(0.02)	0,1	MYH8_HUMAN	MYH8	HGNC	P13535	MYH8_HUMAN					31	4354	-			UPI000012FB7D	1420			Potential.		SNV	MYH8,missense_variant,p.Thr1420Met,ENST00000403437,NM_002472.2;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	uc002gmm.2	c.4259C>T	4354/6041	1	1			c.4259C>T						17	SNP	c.(4258-4260)ACG>ATG	52	52			skin(6)|ovary(3)|breast(2)	11	Broad	myosin, heavy chain 8, skeletal muscle,			10300223	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	0.493	ENSG00000133020	9859	g.chr17:10300223G>A	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle							13.090884	KEEP	10	4	-1	69	48	10	4	-1	30.336632	69	48	0.112069	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002gml.1_Intron	43	GBM-06-0190-TP	p.T1420M	G	CCGCTGCTTCGTCTTCTCAAG	NM_002472	NP_002463	10300223	P13535	MYH8_HUMAN	0			31	4354	-	A	A			Missense_Mutation	1420			Potential.			
MYH8	0	broad.mit.edu	GRCh37	17	10295897	10295897	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000403437.2:c.5530C>T	p.Arg1844Trp	p.R1844W	ENST00000403437	NM_002472.2	1844	Cgg/Tgg	0			1			A	R/W	uc002gmm.2	protein_coding	YES	CCDS11153.1			5530/5814									skin(6)|ovary(3)|breast(2)	11	c.(5530-5532)CGG>TGG			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF340,Superfamily_domains:SSF57997	myosin, heavy chain 8, skeletal muscle,				ENSP00000384330		38/40	2.47E-05	9.61E-05	8.64E-05			1.50E-05			rs751486450,COSM3402576	38/40	.	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	ENST00000403437	Transcript	1		muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	ENSG00000133020	g.chr17:10295897G>A	7578			MODERATE		3.93	high	getma.org/?cm=msa&ty=f&p=MYH8_HUMAN&rb=1071&re=1929&var=R1844W	NA	getma.org/?cm=var&var=hg19,17,10295897,G,A&fts=all	R1844W	--	--	1																																		uc002gml.1_Intron	0,1	1		benign(0.178)	p.R1844W	NM_002472	NP_002463		deleterious(0.01)	0,1	MYH8_HUMAN	MYH8	HGNC	P13535	MYH8_HUMAN					38	5625	-			UPI000012FB7D	1844			Potential.		SNV	MYH8,missense_variant,p.Arg1844Trp,ENST00000403437,NM_002472.2;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	uc002gmm.2	c.5530C>T	5625/6041	1	1			c.5530C>T						17	SNP	c.(5530-5532)CGG>TGG	57	57			skin(6)|ovary(3)|breast(2)	11	Broad	myosin, heavy chain 8, skeletal muscle,			10295897	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	0.433	ENSG00000133020	9859	g.chr17:10295897G>A	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle							-65.42745	KEEP	4	1	-1	171	138	4	1	-1	7.626865	171	138	0.017921	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002gml.1_Intron	129	GBM-12-5295-TP	p.R1844W	G	TCATGTTTCCGTAAACCTTTA	NM_002472	NP_002463	10295897	P13535	MYH8_HUMAN	0			38	5625	-	A	A			Missense_Mutation	1844			Potential.			
MYH8	0	broad.mit.edu	GRCh37	17	10297588	10297588	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01	TCGA-19-2623-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000403437.2:c.5144G>A	p.Arg1715His	p.R1715H	ENST00000403437	NM_002472.2	1715	cGt/cAt	0			1			T	R/H	uc002gmm.2	protein_coding	YES	CCDS11153.1			5144/5814									skin(6)|ovary(3)|breast(2)	11	c.(5143-5145)CGT>CAT			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF340	myosin, heavy chain 8, skeletal muscle,				ENSP00000384330		35/40	2.47E-05		0.000173	0.000116					rs780844078,COSM3402577	35/40	.	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	ENST00000403437	Transcript	1		muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	ENSG00000133020	g.chr17:10297588C>T	7578			MODERATE		3.155	medium	getma.org/?cm=msa&ty=f&p=MYH8_HUMAN&rb=1071&re=1929&var=R1715H	NA	getma.org/?cm=var&var=hg19,17,10297588,C,T&fts=all	R1715H	--	--	1																																		uc002gml.1_Intron	0,1	1		benign(0.262)	p.R1715H	NM_002472	NP_002463		deleterious(0)	0,1	MYH8_HUMAN	MYH8	HGNC	P13535	MYH8_HUMAN					35	5239	-			UPI000012FB7D	1715			Potential.		SNV	MYH8,missense_variant,p.Arg1715His,ENST00000403437,NM_002472.2;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	uc002gmm.2	c.5144G>A	5239/6041	1	1			c.5144G>A						17	SNP	c.(5143-5145)CGT>CAT	16	16			skin(6)|ovary(3)|breast(2)	11	Broad	myosin, heavy chain 8, skeletal muscle,			10297588	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	0.512	ENSG00000133020	9859	g.chr17:10297588C>T	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle							233.454802	KEEP	41	42	-1	29	16	41	42	-1	235.659086	29	16	0.651376	1	0	0	0	0	1	0	0	0	--	--		0	T			uc002gml.1_Intron	163	GBM-19-2623-TP	p.R1715H	C	GAGCTGGACACGCTCACTGGC	NM_002472	NP_002463	10297588	P13535	MYH8_HUMAN	0			35	5239	-	T	T			Missense_Mutation	1715			Potential.			
MYH8	0	broad.mit.edu	GRCh37	17	10304645	10304645	+	stop_gained	Nonsense_Mutation	SNP	T	T	A			TCGA-26-6173-01	TCGA-26-6173-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000403437.2:c.3055A>T	p.Lys1019Ter	p.K1019*	ENST00000403437	NM_002472.2	1019	Aaa/Taa	0			1			A	K/*	uc002gmm.2	protein_coding	YES	CCDS11153.1			3055/5814									skin(6)|ovary(3)|breast(2)	11	c.(3055-3057)AAA>TAA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF340,Superfamily_domains:SSF90257	myosin, heavy chain 8, skeletal muscle,				ENSP00000384330		24/40									COSM3402579	24/40	.	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	ENST00000403437	Transcript	1		muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	ENSG00000133020	g.chr17:10304645T>A	7578			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,17,10304645,T,A&fts=all	K1019*	--	--	1																																		uc002gml.1_Intron	1	1			p.K1019*	NM_002472	NP_002463			1	MYH8_HUMAN	MYH8	HGNC	P13535	MYH8_HUMAN					24	3150	-			UPI000012FB7D	1019			Potential.		SNV	MYH8,stop_gained,p.Lys1019Ter,ENST00000403437,NM_002472.2;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	uc002gmm.2	c.3055A>T	3150/6041	5	2			c.3055A>T						17	SNP	c.(3055-3057)AAA>TAA	18	18			skin(6)|ovary(3)|breast(2)	11	Broad	myosin, heavy chain 8, skeletal muscle,			10304645	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	0.438	ENSG00000133020	9859	g.chr17:10304645T>A	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle							101.261645	KEEP	24	25	-1	81	82	24	25	-1	112.97611	81	82	0.233333	1	0	0	0	0	0	1	0	0	--	--		0	A			uc002gml.1_Intron	187	GBM-26-6173-TP	p.K1019*	T	ATGTTGACTTTGTCCTCCTCT	NM_002472	NP_002463	10304645	P13535	MYH8_HUMAN	0			24	3150	-	A	A			Nonsense_Mutation	1019			Potential.			
MYH8	0	broad.mit.edu	GRCh37	17	10304743	10304743	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01	TCGA-28-2509-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000403437.2:c.2957C>T	p.Ala986Val	p.A986V	ENST00000403437	NM_002472.2	986	gCa/gTa	0			1			A	A/V	uc002gmm.2	protein_coding	YES	CCDS11153.1			2957/5814									skin(6)|ovary(3)|breast(2)	11	c.(2956-2958)GCA>GTA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF340,Superfamily_domains:SSF90257	myosin, heavy chain 8, skeletal muscle,				ENSP00000384330		24/40									COSM3402580	24/40	.	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	ENST00000403437	Transcript	1		muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	ENSG00000133020	g.chr17:10304743G>A	7578			MODERATE		2.415	medium	getma.org/?cm=msa&ty=f&p=MYH8_HUMAN&rb=970&re=1070&var=A986V	NA	getma.org/?cm=var&var=hg19,17,10304743,G,A&fts=all	A986V	--	--	1																																		uc002gml.1_Intron	1	1		benign(0.371)	p.A986V	NM_002472	NP_002463		deleterious(0.02)	1	MYH8_HUMAN	MYH8	HGNC	P13535	MYH8_HUMAN					24	3052	-			UPI000012FB7D	986			Potential.		SNV	MYH8,missense_variant,p.Ala986Val,ENST00000403437,NM_002472.2;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	uc002gmm.2	c.2957C>T	3052/6041	2	2			c.2957C>T						17	SNP	c.(2956-2958)GCA>GTA	25	25			skin(6)|ovary(3)|breast(2)	11	Broad	myosin, heavy chain 8, skeletal muscle,			10304743	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	0.443	ENSG00000133020	9859	g.chr17:10304743G>A	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle							-64.689485	KEEP	5	1	-1	156	135	5	1	-1	7.550998	156	135	0.018116	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002gml.1_Intron	211	GBM-28-2509-TP	p.A986V	G	ATCCAGGCCTGCCATCTCTTC	NM_002472	NP_002463	10304743	P13535	MYH8_HUMAN	0			24	3052	-	A	A			Missense_Mutation	986			Potential.			
MYH8	4626		GRCh37	17	10322097	10322097	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000403437.2:c.376G>T	p.Val126Phe	p.V126F	ENST00000403437	NM_002472.2	126	Gtc/Ttc	0																																																																																																																																																																																																																																												
MYH9	4627	broad.mit.edu	GRCh37	22	36745230	36745232	+	inframe_deletion	In_Frame_Del	DEL	TGA	TGA	-			TCGA-06-0129-01	TCGA-06-0129-01	TGA	TGA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216181.5:c.50_52del	p.Ile17del	p.I17del	ENST00000216181	NM_002473.4	17	aTCAac/aac	0			1			-	IN/N	uc003apg.2	protein_coding	YES	CCDS13927.1			50-52/5883	T	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	ALK		ALCL				breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11	c.(49-54)ATCAAC>AAC			hmmpanther:PTHR13140:SF317,hmmpanther:PTHR13140	myosin, heavy polypeptide 9, non-muscle				ENSP00000216181		Feb-41									COSM2149515	Feb-41	.	Hereditary_Macrothrombocytopenia_MYH9-associated	ENST00000216181	Transcript	1		actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	ENSG00000100345	g.chr22:36745230_36745232delTGA	7579			MODERATE								--	--	1																																		MYH9_uc003api.1_In_Frame_Del_p.I17del	1	1			p.I17del	NM_002473	NP_002464			1	MYH9_HUMAN	MYH9	HGNC	P35579	MYH9_HUMAN			Q9UMJ0_HUMAN,B1AH99_HUMAN		2	281_283	-			UPI000012FB80	17			Myosin head-like.		deletion	MYH9,inframe_deletion,p.Ile17del,ENST00000216181,NM_002473.4;MYH9,inframe_deletion,p.Ile17del,ENST00000401701,;MYH9,inframe_deletion,p.Ile17del,ENST00000456729,;	uc003apg.2	c.50_52delTCA	281-283/7501	5	5			c.50_52delTCA	T	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	ALK		ALCL	22	DEL	c.(49-54)ATCAAC>AAC	56	56			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11	Broad	myosin, heavy polypeptide 9, non-muscle			36745232	Hereditary_Macrothrombocytopenia_MYH9-associated	0.542	ENSG00000100345	9860	g.chr22:36745230_36745232delTGA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			1624			1624														0.64	1	1	0	1	0	0	0	0	0	--	--		0	-			MYH9_uc003api.1_In_Frame_Del_p.I17del	15	GBM-06-0129-TP	p.I17del	TGA	AGCGGATTGTTGATGAAGTTTTT	NM_002473	NP_002464	36745230	P35579	MYH9_HUMAN	0			2	281_283	-	-	-			In_Frame_Del	17			Myosin head-like.			
MYH9	0	broad.mit.edu	GRCh37	22	36689392	36689392	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2624-01	TCGA-19-2624-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216181.5:c.4078G>A	p.Ala1360Thr	p.A1360T	ENST00000216181	NM_002473.4	1360	Gcc/Acc	0			1			T	A/T	uc003apg.2	protein_coding	YES	CCDS13927.1			4078/5883	T	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	ALK		ALCL				breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11	c.(4078-4080)GCC>ACC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF317,hmmpanther:PTHR13140,Pfam_domain:PF01576,Superfamily_domains:SSF90257	myosin, heavy polypeptide 9, non-muscle				ENSP00000216181		30/41									rs569649580,COSM3405643	30/41	.	Hereditary_Macrothrombocytopenia_MYH9-associated	ENST00000216181	Transcript	1		actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	ENSG00000100345	g.chr22:36689392C>T	7579			MODERATE		0.235	neutral	getma.org/?cm=msa&ty=f&p=MYH9_HUMAN&rb=1066&re=1923&var=A1360T	NA	getma.org/?cm=var&var=hg19,22,36689392,C,T&fts=all	A1360T	--	--	1																																			0,1	1		benign(0.001)	p.A1360T	NM_002473	NP_002464			0,1	MYH9_HUMAN	MYH9	HGNC	P35579	MYH9_HUMAN			Q9UMJ0_HUMAN,B1AH99_HUMAN		30	4309	-			UPI000012FB80	1360			Potential.		SNV	MYH9,missense_variant,p.Ala1360Thr,ENST00000216181,NM_002473.4;MYH9,downstream_gene_variant,,ENST00000459960,;	uc003apg.2	c.4078G>A	4309/7501	2	2			c.4078G>A	T	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	ALK		ALCL	22	SNP	c.(4078-4080)GCC>ACC	46	46			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11	Broad	myosin, heavy polypeptide 9, non-muscle			36689392	Hereditary_Macrothrombocytopenia_MYH9-associated	0.662	ENSG00000100345	9860	g.chr22:36689392C>T	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			1624			1624	133.126317	KEEP	25	31	-1	35	23	25	31	-1	133.179515	35	23	0.474747	1	0	0	0	0	1	0	0	0	--	--		0	T				164	GBM-19-2624-TP	p.A1360T	C	TGGAGGGTGGCGATCTGCTTC	NM_002473	NP_002464	36689392	P35579	MYH9_HUMAN	0			30	4309	-	T	T			Missense_Mutation	1360			Potential.			
MYH9	0	broad.mit.edu	GRCh37	22	36714329	36714329	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-81-5910-01	TCGA-81-5910-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216181.5:c.1150G>A	p.Asp384Asn	p.D384N	ENST00000216181	NM_002473.4	384	Gat/Aat	0			1			T	D/N	uc003apg.2	protein_coding	YES	CCDS13927.1			1150/5883	T	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	ALK		ALCL				breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11	c.(1150-1152)GAT>AAT			PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF317,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	myosin, heavy polypeptide 9, non-muscle				ENSP00000216181		Nov-41	8.24E-06					1.50E-05			rs767088377,COSM3405645	Nov-41	.	Hereditary_Macrothrombocytopenia_MYH9-associated	ENST00000216181	Transcript	1		actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	ENSG00000100345	g.chr22:36714329C>T	7579			MODERATE		1.75	low	getma.org/?cm=msa&ty=f&p=MYH9_HUMAN&rb=83&re=764&var=D384N	getma.org/pdb.php?prot=MYH9_HUMAN&from=83&to=764&var=D384N	getma.org/?cm=var&var=hg19,22,36714329,C,T&fts=all	D384N	--	--	1																																		MYH9_uc003aph.1_Missense_Mutation_p.D248N	0,1	1		benign(0.128)	p.D384N	NM_002473	NP_002464			0,1	MYH9_HUMAN	MYH9	HGNC	P35579	MYH9_HUMAN			Q9UMJ0_HUMAN,B1AH99_HUMAN		11	1381	-			UPI000012FB80	384			Myosin head-like.		SNV	MYH9,missense_variant,p.Asp384Asn,ENST00000216181,NM_002473.4;RN7SL349P,upstream_gene_variant,,ENST00000582364,;MYH9,downstream_gene_variant,,ENST00000463027,;MYH9,downstream_gene_variant,,ENST00000472210,;MYH9,non_coding_transcript_exon_variant,,ENST00000477189,;	uc003apg.2	c.1150G>A	1381/7501	2	2			c.1150G>A	T	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	ALK		ALCL	22	SNP	c.(1150-1152)GAT>AAT	27	27			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11	Broad	myosin, heavy polypeptide 9, non-muscle			36714329	Hereditary_Macrothrombocytopenia_MYH9-associated	0.502	ENSG00000100345	9860	g.chr22:36714329C>T	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			1624			1624	277.834993	KEEP	50	51	-1	65	80	50	51	-1	278.851356	65	80	0.425926	1	0	0	0	0	1	0	0	0	--	--		0	T			MYH9_uc003aph.1_Missense_Mutation_p.D248N	289	GBM-81-5910-TP	p.D384N	C	CTGGTGAAATCGGTCACATTG	NM_002473	NP_002464	36714329	P35579	MYH9_HUMAN	0			11	1381	-	T	T			Missense_Mutation	384			Myosin head-like.			
MYL10	93408	broad.mit.edu	GRCh37	7	101256837	101256837	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01	TCGA-06-1804-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000223167.4:c.599C>T	p.Ala200Val	p.A200V	ENST00000223167	NM_138403.4	200	gCa/gTa	0			1			A	A/V	uc003uyr.2	protein_coding	YES	CCDS34713.1			599/681									ovary(1)|breast(1)	2	c.(598-600)GCA>GTA			PROSITE_profiles:PS50222,hmmpanther:PTHR23049,hmmpanther:PTHR23049:SF36,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	myosin, light chain 10, regulatory				ENSP00000223167		8-Aug									COSM2152446	8-Aug	.		ENST00000223167	Transcript				mitochondrion	calcium ion binding	ENSG00000106436	g.chr7:101256837G>A	29825			MODERATE		2.585	medium	getma.org/?cm=msa&ty=f&p=MYL10_HUMAN&rb=190&re=225&var=A200V	getma.org/pdb.php?prot=MYL10_HUMAN&from=190&to=225&var=A200V	getma.org/?cm=var&var=hg19,7,101256837,G,A&fts=all	A200V	--	--	1																																			1	1		benign(0.035)	p.A200V	NM_138403	NP_612412		tolerated(0.06)	1	MYL10_HUMAN	MYL10	HGNC	Q9BUA6	MYL10_HUMAN					8	777	-			UPI00001BBFAD	200			EF-hand 3.		SNV	MYL10,missense_variant,p.Ala200Val,ENST00000223167,NM_138403.4;	uc003uyr.2	c.599C>T	777/1009	1	1			c.599C>T						7	SNP	c.(598-600)GCA>GTA	63	63			ovary(1)|breast(1)	2	Broad	myosin, light chain 10, regulatory			101256837		0.562	ENSG00000106436	9862	g.chr7:101256837G>A		mitochondrion	calcium ion binding	Esophageal Squamous(24;575 709 17516 40384 51639)			Esophageal Squamous(24;575 709 17516 40384 51639)			101.434405	KEEP	16	35	-1	91	81	16	35	-1	113.886853	91	81	0.235897	1	0	0	0	0	1	0	0	0	--	--		0	A				79	GBM-06-1804-TP	p.A200V	G	GGGAAATGCTGCAAACATCTG	NM_138403	NP_612412	101256837	Q9BUA6	MYL10_HUMAN	0			8	777	-	A	A			Missense_Mutation	200			EF-hand 3.			
MYL3	4634		GRCh37	3	46901034	46901034	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000395869.1:c.412C>T	p.Arg138Trp	p.R138W	ENST00000395869		138	Cgg/Tgg	0																																																																																																																																																																																																																																												
MYLIP	0	broad.mit.edu	GRCh37	6	16141881	16141881	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-28-5216-01	TCGA-28-5216-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356840.3:c.304G>C	p.Glu102Gln	p.E102Q	ENST00000356840	NM_013262.3	102	Gag/Cag	0			1			C	E/Q	uc003nbq.2	protein_coding	YES	CCDS4536.1			304/1338									pancreas(1)	1	c.(304-306)GAG>CAG			Prints_domain:PR00935,Superfamily_domains:SSF47031,SMART_domains:SM00295,Gene3D:1.20.80.10,Pfam_domain:PF00373,hmmpanther:PTHR23280,PROSITE_profiles:PS50057	myosin regulatory light chain interacting				ENSP00000349298		7-Mar									COSM3410758	7-Mar	.		ENST00000356840	Transcript			cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000007944	g.chr6:16141881G>C	21155			MODERATE		0.85	low	getma.org/?cm=msa&ty=f&p=MYLIP_HUMAN&rb=83&re=190&var=E102Q	getma.org/pdb.php?prot=MYLIP_HUMAN&from=83&to=190&var=E102Q	getma.org/?cm=var&var=hg19,6,16141881,G,C&fts=all	E102Q	--	--	1																																		MYLIP_uc003nbr.2_5'UTR	1	1		benign(0.306)	p.E102Q	NM_013262	NP_037394		tolerated(0.42)	1	MYLIP_HUMAN	MYLIP	HGNC	Q8WY64	MYLIP_HUMAN	Epithelial(50;0.241)		Q5TIA5_HUMAN		3	541	+	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	UPI000006CDE0	102			FERM.		SNV	MYLIP,missense_variant,p.Glu102Gln,ENST00000356840,NM_013262.3;MYLIP,5_prime_UTR_variant,,ENST00000349606,;MIR4639,downstream_gene_variant,,ENST00000584938,;	uc003nbq.2	c.304G>C	502/1666	4	4			c.304G>C						6	SNP	c.(304-306)GAG>CAG	34	34			pancreas(1)	1	Broad	myosin regulatory light chain interacting			16141881		0.512	ENSG00000007944	9873	g.chr6:16141881G>C	cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding							244.618419	KEEP	38	42	-1	60	56	38	42	-1	245.227301	60	56	0.433962	1	0	0	0	0	1	0	0	0	--	--		0	C			MYLIP_uc003nbr.2_5'UTR	223	GBM-28-5216-TP	p.E102Q	G	GCACATCAAGGAGGCCCTCTT	NM_013262	NP_037394	16141881	Q8WY64	MYLIP_HUMAN	0	Epithelial(50;0.241)		3	541	+	C	C	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Missense_Mutation	102			FERM.			
MYLIP	0	broad.mit.edu	GRCh37	6	16130808	16130808	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-6282-01	TCGA-76-6282-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356840.3:c.108C>G	p.Ile36Met	p.I36M	ENST00000356840	NM_013262.3	36	atC/atG	0			1			G	I/M	uc003nbq.2	protein_coding	YES	CCDS4536.1			108/1338									pancreas(1)	1	c.(106-108)ATC>ATG			Prints_domain:PR00935,Superfamily_domains:SSF54236,SMART_domains:SM00295,Gene3D:3.10.20.90,Pfam_domain:PF09379,hmmpanther:PTHR23280,PROSITE_profiles:PS50057	myosin regulatory light chain interacting				ENSP00000349298		7-Feb									COSM3410756	7-Feb	.		ENST00000356840	Transcript			cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000007944	g.chr6:16130808C>G	21155			MODERATE		2.555	medium	getma.org/?cm=msa&ty=f&p=MYLIP_HUMAN&rb=5&re=82&var=I36M	getma.org/pdb.php?prot=MYLIP_HUMAN&from=5&to=82&var=I36M	getma.org/?cm=var&var=hg19,6,16130808,C,G&fts=all	I36M	--	--	1																																		MYLIP_uc003nbr.2_Intron	1	1		probably_damaging(0.989)	p.I36M	NM_013262	NP_037394		deleterious(0)	1	MYLIP_HUMAN	MYLIP	HGNC	Q8WY64	MYLIP_HUMAN	Epithelial(50;0.241)		Q5TIA5_HUMAN		2	345	+	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	UPI000006CDE0	36			FERM.		SNV	MYLIP,missense_variant,p.Ile36Met,ENST00000356840,NM_013262.3;MYLIP,intron_variant,,ENST00000349606,;	uc003nbq.2	c.108C>G	306/1666	3	3			c.108C>G						6	SNP	c.(106-108)ATC>ATG	1	1			pancreas(1)	1	Broad	myosin regulatory light chain interacting			16130808		0.468	ENSG00000007944	9873	g.chr6:16130808C>G	cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding							84.316214	KEEP	11	16	-1	35	34	11	16	-1	87.461958	35	34	0.298851	1	0	0	0	0	1	0	0	0	--	--		0	G			MYLIP_uc003nbr.2_Intron	278	GBM-76-6282-TP	p.I36M	C	GACTGGGAATCATAGAAGTTG	NM_013262	NP_037394	16130808	Q8WY64	MYLIP_HUMAN	0	Epithelial(50;0.241)		2	345	+	G	G	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Missense_Mutation	36			FERM.			
MYLK	4638	broad.mit.edu	GRCh37	3	123428617	123428617	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0747-01	TCGA-06-0747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360304.3:c.1928C>G	p.Thr643Ser	p.T643S	ENST00000360304	NM_053025.3	643	aCt/aGt	0			1			C	T/S	uc003ego.2	protein_coding	YES	CCDS46896.1			1928/5745									ovary(6)|skin(2)|stomach(1)	9	c.(1927-1929)ACT>AGT			PROSITE_profiles:PS50835,hmmpanther:PTHR22964,hmmpanther:PTHR22964:SF44,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	myosin light chain kinase isoform 1				ENSP00000353452		14/34									COSM2151857	14/34	.		ENST00000360304	Transcript	1		aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	ENSG00000065534	g.chr3:123428617G>C	7590			MODERATE		0.145	neutral	getma.org/?cm=msa&ty=f&p=MYLK_HUMAN&rb=623&re=712&var=T643S	getma.org/pdb.php?prot=MYLK_HUMAN&from=623&to=712&var=T643S	getma.org/?cm=var&var=hg19,3,123428617,G,C&fts=all	T643S	--	--	1																																		MYLK_uc011bjw.1_Missense_Mutation_p.T643S|MYLK_uc003egp.2_Missense_Mutation_p.T574S|MYLK_uc003egq.2_Missense_Mutation_p.T643S|MYLK_uc003egr.2_Missense_Mutation_p.T574S|MYLK_uc003egs.2_Missense_Mutation_p.T467S	1	1		benign(0.034)	p.T643S	NM_053025	NP_444253		tolerated(0.15)	1	MYLK_HUMAN	MYLK	HGNC	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	Q06S79_HUMAN,Q05B98_HUMAN,Q05B97_HUMAN,D6R9C2_HUMAN,B4DUE3_HUMAN		14	2210	-		Lung NSC(201;0.0496)	UPI000020A0AE	643			Ig-like C2-type 5.		SNV	MYLK,missense_variant,p.Thr643Ser,ENST00000360772,;MYLK,missense_variant,p.Thr643Ser,ENST00000360304,NM_053025.3;MYLK,missense_variant,p.Thr643Ser,ENST00000359169,NM_053027.3,NM_053028.3;MYLK,missense_variant,p.Thr574Ser,ENST00000346322,NM_053026.3;MYLK,missense_variant,p.Thr643Ser,ENST00000475616,;MYLK,3_prime_UTR_variant,,ENST00000464489,;MYLK,non_coding_transcript_exon_variant,,ENST00000514623,;	uc003ego.2	c.1928C>G	2210/7834	4	4			c.1928C>G						3	SNP	c.(1927-1929)ACT>AGT	48	48			ovary(6)|skin(2)|stomach(1)	9	Broad	myosin light chain kinase isoform 1			123428617		0.532	ENSG00000065534	9874	g.chr3:123428617G>C	aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			766			766	858.018414	KEEP	158	120	-1	181	183	158	120	-1	859.37832	181	183	0.447038	1	0	0	0	0	1	0	0	0	--	--		0	C			MYLK_uc011bjw.1_Missense_Mutation_p.T643S|MYLK_uc003egp.2_Missense_Mutation_p.T574S|MYLK_uc003egq.2_Missense_Mutation_p.T643S|MYLK_uc003egr.2_Missense_Mutation_p.T574S|MYLK_uc003egs.2_Missense_Mutation_p.T467S	68	GBM-06-0747-TP	p.T643S	G	CACTTGGACAGTCATAGTGAC	NM_053025	NP_444253	123428617	Q15746	MYLK_HUMAN	0		GBM - Glioblastoma multiforme(114;0.0736)	14	2210	-	C	C		Lung NSC(201;0.0496)	Missense_Mutation	643			Ig-like C2-type 5.			
MYLK	0	broad.mit.edu	GRCh37	3	123457797	123457797	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1830-01	TCGA-27-1830-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360304.3:c.535C>T	p.Arg179Ter	p.R179*	ENST00000360304	NM_053025.3	179	Cga/Tga	0			1			A	R/*	uc003ego.2	protein_coding	YES	CCDS46896.1			535/5745									ovary(6)|skin(2)|stomach(1)	9	c.(535-537)CGA>TGA			PROSITE_profiles:PS50835,hmmpanther:PTHR22964,hmmpanther:PTHR22964:SF44,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	myosin light chain kinase isoform 1				ENSP00000353452		Jul-34	1.65E-05					3.40E-05			rs761508149,COSM3408192	Jul-34	.		ENST00000360304	Transcript	1		aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	ENSG00000065534	g.chr3:123457797G>A	7590			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,3,123457797,G,A&fts=all	R179*	--	--	1																																		MYLK_uc011bjw.1_Nonsense_Mutation_p.R179*|MYLK_uc003egp.2_Nonsense_Mutation_p.R179*|MYLK_uc003egq.2_Nonsense_Mutation_p.R179*|MYLK_uc003egr.2_Nonsense_Mutation_p.R179*|MYLK_uc003egs.2_Nonsense_Mutation_p.R3*|MYLK_uc010hrs.1_Nonsense_Mutation_p.R179*	0,1	1			p.R179*	NM_053025	NP_444253			0,1	MYLK_HUMAN	MYLK	HGNC	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	Q06S79_HUMAN,Q05B98_HUMAN,Q05B97_HUMAN,D6R9C2_HUMAN,B4DUE3_HUMAN		7	817	-		Lung NSC(201;0.0496)	UPI000020A0AE	179			Ig-like C2-type 2.		SNV	MYLK,stop_gained,p.Arg179Ter,ENST00000360772,;MYLK,stop_gained,p.Arg179Ter,ENST00000360304,NM_053025.3;MYLK,stop_gained,p.Arg179Ter,ENST00000359169,NM_053027.3,NM_053028.3;MYLK,stop_gained,p.Arg179Ter,ENST00000346322,NM_053026.3;MYLK,stop_gained,p.Arg179Ter,ENST00000475616,;MYLK,3_prime_UTR_variant,,ENST00000464489,;MYLK,non_coding_transcript_exon_variant,,ENST00000506361,;MYLK,upstream_gene_variant,,ENST00000514623,;MYLK,downstream_gene_variant,,ENST00000510571,;	uc003ego.2	c.535C>T	817/7834	5	2			c.535C>T						3	SNP	c.(535-537)CGA>TGA	35	35			ovary(6)|skin(2)|stomach(1)	9	Broad	myosin light chain kinase isoform 1			123457797		0.562	ENSG00000065534	9874	g.chr3:123457797G>A	aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			766			766	56.580826	KEEP	9	12	-1	12	26	9	12	-1	57.481942	12	26	0.363636	1	0	0	0	0	0	1	0	0	--	--		0	A			MYLK_uc011bjw.1_Nonsense_Mutation_p.R179*|MYLK_uc003egp.2_Nonsense_Mutation_p.R179*|MYLK_uc003egq.2_Nonsense_Mutation_p.R179*|MYLK_uc003egr.2_Nonsense_Mutation_p.R179*|MYLK_uc003egs.2_Nonsense_Mutation_p.R3*|MYLK_uc010hrs.1_Nonsense_Mutation_p.R179*	189	GBM-27-1830-TP	p.R179*	G	CAGGAGAATCGTCCCATCTGT	NM_053025	NP_444253	123457797	Q15746	MYLK_HUMAN	0		GBM - Glioblastoma multiforme(114;0.0736)	7	817	-	A	A		Lung NSC(201;0.0496)	Nonsense_Mutation	179			Ig-like C2-type 2.			
MYLK	0	broad.mit.edu	GRCh37	3	123333123	123333123	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360304.3:c.5574C>T	p.Asp1858=	p.D1858=	ENST00000360304	NM_053025.3	1858	gaC/gaT	0			1			A	D	uc003ego.2	protein_coding	YES	CCDS46896.1			5574/5745									ovary(6)|skin(2)|stomach(1)	9	c.(5572-5574)GAC>GAT			PROSITE_profiles:PS50835,hmmpanther:PTHR22964,hmmpanther:PTHR22964:SF44,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	myosin light chain kinase isoform 1				ENSP00000353452		34/34									COSM3408191	34/34	.		ENST00000360304	Transcript	1		aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	ENSG00000065534	g.chr3:123333123G>A	7590			LOW								--	--	1																																		uc003egk.2_Intron|MYLK_uc003egl.2_Silent_p.D98D|MYLK_uc003egm.2_Silent_p.D97D|MYLK_uc010hrr.2_Silent_p.D293D|MYLK_uc011bjv.1_Silent_p.D658D|MYLK_uc011bjw.1_Silent_p.D1857D|MYLK_uc003egp.2_Silent_p.D1789D|MYLK_uc003egq.2_Silent_p.D1807D|MYLK_uc003egr.2_Silent_p.D1738D|MYLK_uc003egs.2_Silent_p.D1682D	1	1			p.D1858D	NM_053025	NP_444253			1	MYLK_HUMAN	MYLK	HGNC	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	Q06S79_HUMAN,Q05B98_HUMAN,Q05B97_HUMAN,D6R9C2_HUMAN,B4DUE3_HUMAN		34	5856	-		Lung NSC(201;0.0496)	UPI000020A0AE	1858			Ig-like C2-type 9.		SNV	MYLK,synonymous_variant,p.=,ENST00000360772,;MYLK,synonymous_variant,p.=,ENST00000360304,NM_053025.3;MYLK,synonymous_variant,p.=,ENST00000359169,NM_053027.3,NM_053028.3;MYLK,synonymous_variant,p.=,ENST00000418370,NM_053032.2;MYLK,synonymous_variant,p.=,ENST00000346322,NM_053026.3;MYLK,synonymous_variant,p.=,ENST00000475616,;MYLK,synonymous_variant,p.=,ENST00000354792,;MYLK,synonymous_variant,p.=,ENST00000578202,NM_053031.2;MYLK,synonymous_variant,p.=,ENST00000583087,;MYLK-AS1,intron_variant,,ENST00000470449,;MYLK-AS1,intron_variant,,ENST00000485162,;MYLK-AS1,intron_variant,,ENST00000463408,;MYLK,3_prime_UTR_variant,,ENST00000464489,;MYLK,downstream_gene_variant,,ENST00000515434,;	uc003ego.2	c.5574C>T	5856/7834	1	1			c.5574C>T						3	SNP	c.(5572-5574)GAC>GAT	58	58			ovary(6)|skin(2)|stomach(1)	9	Broad	myosin light chain kinase isoform 1			123333123		0.502	ENSG00000065534	9874	g.chr3:123333123G>A	aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			766			766	50.912989	KEEP	17	17	-1	112	95	17	17	-1	73.26659	112	95	0.153846	1	0	0	0	0	0	0	1	0	--	--		0	A			uc003egk.2_Intron|MYLK_uc003egl.2_Silent_p.D98D|MYLK_uc003egm.2_Silent_p.D97D|MYLK_uc010hrr.2_Silent_p.D293D|MYLK_uc011bjv.1_Silent_p.D658D|MYLK_uc011bjw.1_Silent_p.D1857D|MYLK_uc003egp.2_Silent_p.D1789D|MYLK_uc003egq.2_Silent_p.D1807D|MYLK_uc003egr.2_Silent_p.D1738D|MYLK_uc003egs.2_Silent_p.D1682D	213	GBM-28-2513-TP	p.D1858D	G	CCTCATCGTAGTCTATCTGGA	NM_053025	NP_444253	123333123	Q15746	MYLK_HUMAN	0		GBM - Glioblastoma multiforme(114;0.0736)	34	5856	-	A	A		Lung NSC(201;0.0496)	Silent	1858			Ig-like C2-type 9.			
MYLK2	85366		GRCh37	20	30409482	30409482	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000375994.2:c.714C>T	p.Ser238=	p.S238=	ENST00000375994		238	tcC/tcT	0																																																																																																																																																																																																																																												
MYLK3	91807	broad.mit.edu	GRCh37	16	46755087	46755087	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01	TCGA-06-2564-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394809.4:c.1933G>A	p.Val645Ile	p.V645I	ENST00000394809	NM_182493.2	645	Gtc/Atc	0			1			T	V/I	uc002eei.3	protein_coding	YES	CCDS10723.2			1933/2460									stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7	c.(1933-1935)GTC>ATC			PROSITE_profiles:PS50011,hmmpanther:PTHR24347:SF45,hmmpanther:PTHR24347,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	myosin light chain kinase 3				ENSP00000378288		13-Sep	3.29E-05			0.000116		3.00E-05	0.0011		rs763522795,COSM258893,COSM258892	13-Sep	.		ENST00000394809	Transcript			cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	ENSG00000140795	g.chr16:46755087C>T	29826			MODERATE		0.955	low	getma.org/?cm=msa&ty=f&p=MYLK3_HUMAN&rb=515&re=770&var=V645I	getma.org/pdb.php?prot=MYLK3_HUMAN&from=515&to=770&var=V645I	getma.org/?cm=var&var=hg19,16,46755087,C,T&fts=all	V645I	--	--	1																																		MYLK3_uc010vge.1_Missense_Mutation_p.V304I	0,1,1	1		benign(0.102)	p.V645I	NM_182493	NP_872299		tolerated(0.07)	0,1,1	MYLK3_HUMAN	MYLK3	HGNC	Q32MK0	MYLK3_HUMAN					9	2049	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	UPI000059D380	645			Protein kinase.		SNV	MYLK3,missense_variant,p.Val645Ile,ENST00000394809,NM_182493.2;MYLK3,missense_variant,p.Val304Ile,ENST00000536476,;MYLK3,downstream_gene_variant,,ENST00000564731,;	uc002eei.3	c.1933G>A	2049/3301	2	2			c.1933G>A						16	SNP	c.(1933-1935)GTC>ATC	26	26			stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7	Broad	myosin light chain kinase 3			46755087		0.448	ENSG00000140795	9876	g.chr16:46755087C>T	cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			207			207	170.977461	KEEP	29	44	-1	76	84	29	44	-1	177.831093	76	84	0.305419	1	0	0	0	0	1	0	0	0	--	--		0	T			MYLK3_uc010vge.1_Missense_Mutation_p.V304I	87	GBM-06-2564-TP	p.V645I	C	GTCTGATTGACGCACAATATG	NM_182493	NP_872299	46755087	Q32MK0	MYLK3_HUMAN	0			9	2049	-	T	T		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	Missense_Mutation	645			Protein kinase.			
MYO10	4651	broad.mit.edu	GRCh37	5	16668401	16668401	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5856-01	TCGA-06-5856-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000513610.1:c.6060C>T	p.Leu2020=	p.L2020=	ENST00000513610	NM_012334.2	2020	ctC/ctT	0			1			A	L	uc003jft.3	protein_coding	YES	CCDS54834.1			6060/6177									ovary(2)|pancreas(1)	3	c.(6058-6060)CTC>CTT			Gene3D:2.30.29.30,PROSITE_profiles:PS50057	myosin X				ENSP00000421280		40/41	8.27E-06					1.51E-05			rs750415980,COSM3410094	40/41	.		ENST00000513610	Transcript			axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	ENSG00000145555	g.chr5:16668401G>A	7593			LOW								--	--	1																																		MYO10_uc011cnb.1_Silent_p.L649L|MYO10_uc011cnc.1_Silent_p.L899L|MYO10_uc011cnd.1_Silent_p.L1377L|MYO10_uc011cne.1_Silent_p.L1377L|MYO10_uc010itx.2_Silent_p.L1642L	0,1	1			p.L2020L	NM_012334	NP_036466			0,1	MYO10_HUMAN	MYO10	HGNC	Q9HD67	MYO10_HUMAN			E9PEW5_HUMAN,E7EPL7_HUMAN,B4E0P0_HUMAN		40	6528	-			UPI0001597062	2020			FERM.		SNV	MYO10,synonymous_variant,p.=,ENST00000513610,NM_012334.2;MYO10,synonymous_variant,p.=,ENST00000515803,;MYO10,synonymous_variant,p.=,ENST00000274203,;MYO10,synonymous_variant,p.=,ENST00000505695,;MYO10,synonymous_variant,p.=,ENST00000427430,;	uc003jft.3	c.6060C>T	6515/8038	2	2			c.6060C>T						5	SNP	c.(6058-6060)CTC>CTT	31	31			ovary(2)|pancreas(1)	3	Broad	myosin X			16668401		0.463	ENSG00000145555	9880	g.chr5:16668401G>A	axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity							301.519594	KEEP	62	50	-1	49	60	62	50	-1	301.520801	49	60	0.497268	1	0	0	0	0	0	0	1	0	--	--		0	A			MYO10_uc011cnb.1_Silent_p.L649L|MYO10_uc011cnc.1_Silent_p.L899L|MYO10_uc011cnd.1_Silent_p.L1377L|MYO10_uc011cne.1_Silent_p.L1377L|MYO10_uc010itx.2_Silent_p.L1642L	101	GBM-06-5856-TP	p.L2020L	G	TGGTTTCAAAGAGCAGCTCCC	NM_012334	NP_036466	16668401	Q9HD67	MYO10_HUMAN	0			40	6528	-	A	A			Silent	2020			FERM.			
MYO10	0	broad.mit.edu	GRCh37	5	16769271	16769271	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-3649-01	TCGA-12-3649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000513610.1:c.972G>A	p.Arg324=	p.R324=	ENST00000513610	NM_012334.2	324	cgG/cgA	0			1			T	R	uc003jft.3	protein_coding	YES	CCDS54834.1			972/6177									ovary(2)|pancreas(1)	3	c.(970-972)CGG>CGA			Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF276,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	myosin X				ENSP00000421280		Oct-41									COSM3410113	Oct-41	.		ENST00000513610	Transcript			axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	ENSG00000145555	g.chr5:16769271C>T	7593			LOW								--	--	1																																		MYO10_uc010itx.2_5'Flank	1	1			p.R324R	NM_012334	NP_036466			1	MYO10_HUMAN	MYO10	HGNC	Q9HD67	MYO10_HUMAN			E9PEW5_HUMAN,E7EPL7_HUMAN,B4E0P0_HUMAN		10	1440	-			UPI0001597062	324			Myosin head-like.		SNV	MYO10,synonymous_variant,p.=,ENST00000513610,NM_012334.2;MYO10,synonymous_variant,p.=,ENST00000513882,;	uc003jft.3	c.972G>A	1427/8038	1	1			c.972G>A						5	SNP	c.(970-972)CGG>CGA	16	16			ovary(2)|pancreas(1)	3	Broad	myosin X			16769271		0.413	ENSG00000145555	9880	g.chr5:16769271C>T	axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity							20.214589	KEEP	2	5	-1	9	8	2	5	-1	21.147981	9	8	0.291667	1	0	0	0	0	0	0	1	0	--	--		0	T			MYO10_uc010itx.2_5'Flank	125	GBM-12-3649-TP	p.R324R	C	TCGACACTTCCCGAACTTCCT	NM_012334	NP_036466	16769271	Q9HD67	MYO10_HUMAN	0			10	1440	-	T	T			Silent	324			Myosin head-like.			
MYO10	0	broad.mit.edu	GRCh37	5	16877810	16877810	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01	TCGA-26-6174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000513610.1:c.28C>T	p.Arg10Trp	p.R10W	ENST00000513610	NM_012334.2	10	Cgg/Tgg	0			1			A	R/W	uc003jft.3	protein_coding	YES	CCDS54834.1			28/6177									ovary(2)|pancreas(1)	3	c.(28-30)CGG>TGG			hmmpanther:PTHR13140:SF276,hmmpanther:PTHR13140	myosin X				ENSP00000421280		Feb-41									COSM3410132	Feb-41	.		ENST00000513610	Transcript			axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	ENSG00000145555	g.chr5:16877810G>A	7593			MODERATE		1.515	low	getma.org/?cm=msa&ty=f&p=MYO10_HUMAN&rb=1&re=727&var=R10W	getma.org/pdb.php?prot=MYO10_HUMAN&from=1&to=727&var=R10W	getma.org/?cm=var&var=hg19,5,16877810,G,A&fts=all	R10W	--	--	1																																		MYO10_uc003jfu.2_Intron|MYO10_uc003jfv.2_Missense_Mutation_p.R10W	1	1		probably_damaging(0.982)	p.R10W	NM_012334	NP_036466		tolerated(0.11)	1	MYO10_HUMAN	MYO10	HGNC	Q9HD67	MYO10_HUMAN			E9PEW5_HUMAN,E7EPL7_HUMAN,B4E0P0_HUMAN		2	496	-			UPI0001597062	10			Myosin head-like.		SNV	MYO10,missense_variant,p.Arg10Trp,ENST00000513610,NM_012334.2;MYO10,missense_variant,p.Arg21Trp,ENST00000513882,;MYO10,missense_variant,p.Arg10Trp,ENST00000507288,;MYO10,intron_variant,,ENST00000502436,;	uc003jft.3	c.28C>T	483/8038	1	1			c.28C>T						5	SNP	c.(28-30)CGG>TGG	53	53			ovary(2)|pancreas(1)	3	Broad	myosin X			16877810		0.438	ENSG00000145555	9880	g.chr5:16877810G>A	axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity							31.176035	KEEP	5	9	-1	14	12	5	9	-1	31.94577	14	12	0.342857	1	0	0	0	0	1	0	0	0	--	--		0	A			MYO10_uc003jfu.2_Intron|MYO10_uc003jfv.2_Missense_Mutation_p.R10W	188	GBM-26-6174-TP	p.R10W	G	AGCCAGACCCGTGTTCCCTGT	NM_012334	NP_036466	16877810	Q9HD67	MYO10_HUMAN	0			2	496	-	A	A			Missense_Mutation	10			Myosin head-like.			
MYO15A	51168	broad.mit.edu	GRCh37	17	18024801	18024801	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-06-5411-01	TCGA-06-5411-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000205890.5:c.2689del	p.Ala897ProfsTer89	p.A897Pfs*89	ENST00000205890	NM_016239.3	896	aGg/ag	0			1			-	R/X	uc010vxh.1	protein_coding	YES	CCDS42271.1			2687/10593									skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	c.(2686-2688)AGGfs				myosin XV				ENSP00000205890		Feb-66										Feb-66	.		ENST00000205890	Transcript	1		sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	ENSG00000091536	g.chr17:18024801delG	7594	2		HIGH								--	--	1																																				1			p.R896fs	NM_016239	NP_057323				MYO15_HUMAN	MYO15A	HGNC	Q9UKN7	MYO15_HUMAN			K7EQV1_HUMAN,G3V4G3_HUMAN		2	3025	+	all_neural(463;0.228)		UPI0000E59E6E	896			Myosin head-like.		deletion	MYO15A,frameshift_variant,p.Ala897ProfsTer89,ENST00000205890,NM_016239.3;MYO15A,non_coding_transcript_exon_variant,,ENST00000583079,;	uc010vxh.1	c.2687delG	3025/11863	5	5			c.2687delG						17	DEL	c.(2686-2688)AGGfs	27	27			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	Broad	myosin XV			18024801		0.741	ENSG00000091536	9881	g.chr17:18024801delG	sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity																				0.83	1	1	0	1	0	0	0	0	0	--	--		0	-				94	GBM-06-5411-TP	p.R896fs	G	CGACCGCCCAGGGCCGGGGCC	NM_016239	NP_057323	18024801	Q9UKN7	MYO15_HUMAN	0			2	3025	+	-	-	all_neural(463;0.228)		Frame_Shift_Del	896			Myosin head-like.			
MYO15A	0	broad.mit.edu	GRCh37	17	18052554	18052554	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-3652-01	TCGA-12-3652-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000205890.5:c.6981G>A	p.Ser2327=	p.S2327=	ENST00000205890	NM_016239.3	2327	tcG/tcA	0	A:0.0002	A:0.0008	1	A:0		A	S	uc010vxh.1	protein_coding	YES	CCDS42271.1			6981/10593									skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	c.(6979-6981)TCG>TCA				myosin XV		A:0	A:0	ENSP00000205890	A:0	34/66	4.96E-05	0.000312		0.000117		1.52E-05			rs377504192,COSM3402645	34/66	.		ENST00000205890	Transcript	1	A:0.0002	sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	ENSG00000091536	g.chr17:18052554G>A	7594			LOW								--	--	1																																			0,1	1			p.S2327S	NM_016239	NP_057323	A:0		0,1	MYO15_HUMAN	MYO15A	HGNC	Q9UKN7	MYO15_HUMAN			K7EQV1_HUMAN,G3V4G3_HUMAN		33	7319	+	all_neural(463;0.228)		UPI0000E59E6E	2327			Tail.		SNV	MYO15A,synonymous_variant,p.=,ENST00000205890,NM_016239.3;MYO15A,upstream_gene_variant,,ENST00000418233,;MYO15A,upstream_gene_variant,,ENST00000585180,;snoU13,downstream_gene_variant,,ENST00000459354,;MYO15A,non_coding_transcript_exon_variant,,ENST00000578999,;MYO15A,upstream_gene_variant,,ENST00000445289,;MYO15A,upstream_gene_variant,,ENST00000536811,;	uc010vxh.1	c.6981G>A	7319/11863	1	1			c.6981G>A						17	SNP	c.(6979-6981)TCG>TCA	64	64			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	Broad	myosin XV			18052554		0.512	ENSG00000091536	9881	g.chr17:18052554G>A	sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity							64.525387	KEEP	10	11	-1	12	11	10	11	-1	64.525387	12	11	0.5	1	0	0	0	0	0	0	1	0	--	--		0	A				127	GBM-12-3652-TP	p.S2327S	G	GCTGGGACTCGGATGAGGACA	NM_016239	NP_057323	18052554	Q9UKN7	MYO15_HUMAN	0			33	7319	+	A	A	all_neural(463;0.228)		Silent	2327			Tail.			
MYO15A	0	broad.mit.edu	GRCh37	17	18047889	18047889	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000205890.5:c.6256G>A	p.Val2086Met	p.V2086M	ENST00000205890	NM_016239.3	2086	Gtg/Atg	0	A:0		1			A	V/M	uc010vxh.1	protein_coding	YES	CCDS42271.1			6256/10593									skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	c.(6256-6258)GTG>ATG			PROSITE_profiles:PS51016,SMART_domains:SM00139	myosin XV			A:0.0002	ENSP00000205890		29/66	1.65E-05	0.000103					0.00112		rs369781492,COSM3402644	29/66	.		ENST00000205890	Transcript	1		sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	ENSG00000091536	g.chr17:18047889G>A	7594			MODERATE		2.35	medium	getma.org/?cm=msa&ty=f&p=MYO15_HUMAN&rb=2065&re=2217&var=V2086M	NA	getma.org/?cm=var&var=hg19,17,18047889,G,A&fts=all	V2086M	--	--	1																																			0,1	1		unknown(0)	p.V2086M	NM_016239	NP_057323			0,1	MYO15_HUMAN	MYO15A	HGNC	Q9UKN7	MYO15_HUMAN			K7EQV1_HUMAN,G3V4G3_HUMAN		28	6594	+	all_neural(463;0.228)		UPI0000E59E6E	2086			Tail.|MyTH4 1.		SNV	MYO15A,missense_variant,p.Val2086Met,ENST00000205890,NM_016239.3;snoU13,upstream_gene_variant,,ENST00000459354,;MYO15A,downstream_gene_variant,,ENST00000412324,;MYO15A,upstream_gene_variant,,ENST00000578999,;	uc010vxh.1	c.6256G>A	6594/11863	2	2			c.6256G>A						17	SNP	c.(6256-6258)GTG>ATG	43	43			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	Broad	myosin XV			18047889		0.607	ENSG00000091536	9881	g.chr17:18047889G>A	sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity							110.254791	KEEP	34	29	-1	42	54	34	29	-1	110.892157	42	54	0.414141	1	0	0	0	0	1	0	0	0	--	--		0	A				131	GBM-12-5301-TP	p.V2086M	G	TGCAGAAGCCGTGAGCATCTT	NM_016239	NP_057323	18047889	Q9UKN7	MYO15_HUMAN	0			28	6594	+	A	A	all_neural(463;0.228)		Missense_Mutation	2086			Tail.|MyTH4 1.			
MYO15A	0	broad.mit.edu	GRCh37	17	18055238	18055238	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-2631-01	TCGA-19-2631-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000205890.5:c.7866C>T	p.Thr2622=	p.T2622=	ENST00000205890	NM_016239.3	2622	acC/acT	0			1			T	T	uc010vxh.1	protein_coding	YES	CCDS42271.1			7866/10593									skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	c.(7864-7866)ACC>ACT				myosin XV				ENSP00000205890		41/66									COSM3402646	41/66	.		ENST00000205890	Transcript	1		sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	ENSG00000091536	g.chr17:18055238C>T	7594			LOW								--	--	1																																		MYO15A_uc010vxi.1_5'Flank|MYO15A_uc010vxj.1_5'Flank|MYO15A_uc010vxk.1_5'Flank	1	1			p.T2622T	NM_016239	NP_057323			1	MYO15_HUMAN	MYO15A	HGNC	Q9UKN7	MYO15_HUMAN			K7EQV1_HUMAN,G3V4G3_HUMAN		40	8204	+	all_neural(463;0.228)		UPI0000E59E6E	2622			Tail.		SNV	MYO15A,synonymous_variant,p.=,ENST00000205890,NM_016239.3;MYO15A,upstream_gene_variant,,ENST00000418233,;MYO15A,upstream_gene_variant,,ENST00000585180,;MYO15A,upstream_gene_variant,,ENST00000445289,;MYO15A,downstream_gene_variant,,ENST00000578999,;MYO15A,upstream_gene_variant,,ENST00000536811,;	uc010vxh.1	c.7866C>T	8204/11863	2	2			c.7866C>T						17	SNP	c.(7864-7866)ACC>ACT	32	32			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	Broad	myosin XV			18055238		0.602	ENSG00000091536	9881	g.chr17:18055238C>T	sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity							12.40284	KEEP	2	2	-1	2	1	2	2	-1	12.434662	2	1	0.571429	1	0	0	0	0	0	0	1	0	--	--		0	T			MYO15A_uc010vxi.1_5'Flank|MYO15A_uc010vxj.1_5'Flank|MYO15A_uc010vxk.1_5'Flank	167	GBM-19-2631-TP	p.T2622T	C	GGCAGATGACCCACCTGGCAG	NM_016239	NP_057323	18055238	Q9UKN7	MYO15_HUMAN	0			40	8204	+	T	T	all_neural(463;0.228)		Silent	2622			Tail.			
MYO15A	51168		GRCh37	17	18022706	18022706	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000205890.5:c.592G>A	p.Ala198Thr	p.A198T	ENST00000205890	NM_016239.3	198	Gcg/Acg	0																																																																																																																																																																																																																																												
MYO16	0	broad.mit.edu	GRCh37	13	109792874	109792874	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-12-5295-01	TCGA-12-5295-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356711.2:c.4251delG	p.His1418ThrfsTer18	p.H1418Tfs*18	ENST00000356711	NM_015011.1	1416	ctG/ct	0			1			-	L/X	uc001vqt.1	protein_coding	YES	CCDS32008.1			4248/5577									ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	c.(4246-4248)CTGfs			Pfam_domain:PF15439	myosin heavy chain Myr 8				ENSP00000349145		32/35										32/35	.		ENST00000356711	Transcript			cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	ENSG00000041515	g.chr13:109792874delG	29822	3		HIGH								--	--	1																																		MYO16_uc010agk.1_Frame_Shift_Del_p.L1438fs		1			p.L1416fs	NM_015011	NP_055826				MYO16_HUMAN	MYO16	HGNC	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)				32	4374	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		UPI0000160FF2	1416			Pro-rich.		deletion	MYO16,frameshift_variant,p.His1418ThrfsTer18,ENST00000356711,NM_015011.1;MYO16,frameshift_variant,p.His1418ThrfsTer18,ENST00000357550,NM_001198950.1;	uc001vqt.1	c.4248delG	4374/6874	5	5			c.4248delG						13	DEL	c.(4246-4248)CTGfs	12	12			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	Broad	myosin heavy chain Myr 8			109792874		0.736	ENSG00000041515	9882	g.chr13:109792874delG	cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity																				0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			MYO16_uc010agk.1_Frame_Shift_Del_p.L1438fs	129	GBM-12-5295-TP	p.L1416fs	G	TCGAGATGCTGGGGCACGCGG	NM_015011	NP_055826	109792874	Q9Y6X6	MYO16_HUMAN	0	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		32	4374	+	-	-	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		Frame_Shift_Del	1416			Pro-rich.			
MYO16	0	broad.mit.edu	GRCh37	13	109859100	109859100	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-19-1390-01	TCGA-19-1390-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356711.2:c.5493T>C	p.Pro1831=	p.P1831=	ENST00000356711	NM_015011.1	1831	ccT/ccC	0			1			C	P	uc001vqt.1	protein_coding	YES	CCDS32008.1			5493/5577									ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	c.(5491-5493)CCT>CCC			Low_complexity_(Seg):seg	myosin heavy chain Myr 8				ENSP00000349145		35/35									COSM3747937	35/35	.		ENST00000356711	Transcript			cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	ENSG00000041515	g.chr13:109859100T>C	29822			LOW								--	--	1																																		MYO16_uc010agk.1_Silent_p.P1853P	1	1			p.P1831P	NM_015011	NP_055826			1	MYO16_HUMAN	MYO16	HGNC	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)				35	5619	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		UPI0000160FF2	1831					SNV	MYO16,synonymous_variant,p.=,ENST00000356711,NM_015011.1;MYO16,synonymous_variant,p.=,ENST00000357550,NM_001198950.1;	uc001vqt.1	c.5493T>C	5619/6874	3	3			c.5493T>C						13	SNP	c.(5491-5493)CCT>CCC	51	51			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	Broad	myosin heavy chain Myr 8			109859100		0.597	ENSG00000041515	9882	g.chr13:109859100T>C	cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity							49.104984	KEEP	5	14	-1	30	41	5	14	-1	55.829085	30	41	0.209302	1	0	0	0	0	0	0	1	0	--	--		0	C			MYO16_uc010agk.1_Silent_p.P1853P	159	GBM-19-1390-TP	p.P1831P	T	CCCCACCACCTTGCAAGAAGC	NM_015011	NP_055826	109859100	Q9Y6X6	MYO16_HUMAN	0	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		35	5619	+	C	C	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		Silent	1831						
MYO18A	0	broad.mit.edu	GRCh37	17	27424842	27424842	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2521-01	TCGA-27-2521-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000527372.1:c.4066G>A	p.Ala1356Thr	p.A1356T	ENST00000527372	NM_078471.3	1356	Gcg/Acg	0			1			T	A/T	uc002hdt.1	protein_coding	YES	CCDS45642.1			4066/6165										0	c.(4066-4068)GCG>ACG			Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF293	myosin 18A isoform a				ENSP00000437073		26/42									COSM3402705,COSM3402704	26/42	.		ENST00000527372	Transcript			anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	ENSG00000196535	g.chr17:27424842C>T	31104			MODERATE		0.9	low	getma.org/?cm=msa&ty=f&p=MY18A_HUMAN&rb=1248&re=1841&var=A1356T	NA	getma.org/?cm=var&var=hg19,17,27424842,C,T&fts=all	A1356T	--	--	1																																		MYO18A_uc010wbc.1_Missense_Mutation_p.A898T|MYO18A_uc002hds.2_Missense_Mutation_p.A898T|MYO18A_uc010csa.1_Missense_Mutation_p.A1356T|MYO18A_uc002hdu.1_Missense_Mutation_p.A1356T|MYO18A_uc010wbd.1_Missense_Mutation_p.A1025T	1,1	1		benign(0.026)	p.A1356T	NM_078471	NP_510880		tolerated(0.15)	1,1	MY18A_HUMAN	MYO18A	HGNC	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)				26	4224	-			UPI0000167F32	1356			Potential.		SNV	MYO18A,missense_variant,p.Ala1356Thr,ENST00000527372,NM_078471.3;MYO18A,missense_variant,p.Ala1356Thr,ENST00000354329,;MYO18A,missense_variant,p.Ala1356Thr,ENST00000533112,;MYO18A,missense_variant,p.Ala1356Thr,ENST00000531253,NM_203318.1;MYO18A,3_prime_UTR_variant,,ENST00000530254,;MYO18A,non_coding_transcript_exon_variant,,ENST00000530557,;MYO18A,downstream_gene_variant,,ENST00000532143,;MYO18A,upstream_gene_variant,,ENST00000533652,;	uc002hdt.1	c.4066G>A	4247/7597	2	2			c.4066G>A						17	SNP	c.(4066-4068)GCG>ACG	33	33				0	Broad	myosin 18A isoform a			27424842		0.602	ENSG00000196535	9883	g.chr17:27424842C>T	anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	Esophageal Squamous(182;472 2015 7001 15270 22562)			Esophageal Squamous(182;472 2015 7001 15270 22562)			288.303343	KEEP	52	57	-1	57	58	52	57	-1	288.357961	57	58	0.482234	1	0	0	0	0	1	0	0	0	--	--		0	T			MYO18A_uc010wbc.1_Missense_Mutation_p.A898T|MYO18A_uc002hds.2_Missense_Mutation_p.A898T|MYO18A_uc010csa.1_Missense_Mutation_p.A1356T|MYO18A_uc002hdu.1_Missense_Mutation_p.A1356T|MYO18A_uc010wbd.1_Missense_Mutation_p.A1025T	200	GBM-27-2521-TP	p.A1356T	C	TTGATCTCCGCTGCCCGGATG	NM_078471	NP_510880	27424842	Q92614	MY18A_HUMAN	0	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		26	4224	-	T	T			Missense_Mutation	1356			Potential.			
MYO18A	0	broad.mit.edu	GRCh37	17	27424907	27424907	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-4926-01	TCGA-76-4926-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000527372.1:c.4001A>G	p.Asp1334Gly	p.D1334G	ENST00000527372	NM_078471.3	1334	gAt/gGt	0			1			C	D/G	uc002hdt.1	protein_coding	YES	CCDS45642.1			4001/6165										0	c.(4000-4002)GAT>GGT			Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF293,Coiled-coils_(Ncoils):Coil	myosin 18A isoform a				ENSP00000437073		26/42									COSM3402707,COSM3402706	26/42	.		ENST00000527372	Transcript			anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	ENSG00000196535	g.chr17:27424907T>C	31104			MODERATE		1.825	low	getma.org/?cm=msa&ty=f&p=MY18A_HUMAN&rb=1248&re=1841&var=D1334G	NA	getma.org/?cm=var&var=hg19,17,27424907,T,C&fts=all	D1334G	--	--	1																																		MYO18A_uc010wbc.1_Missense_Mutation_p.D876G|MYO18A_uc002hds.2_Missense_Mutation_p.D876G|MYO18A_uc010csa.1_Missense_Mutation_p.D1334G|MYO18A_uc002hdu.1_Missense_Mutation_p.D1334G|MYO18A_uc010wbd.1_Missense_Mutation_p.D1003G	1,1	1		possibly_damaging(0.7)	p.D1334G	NM_078471	NP_510880		deleterious(0.02)	1,1	MY18A_HUMAN	MYO18A	HGNC	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)				26	4159	-			UPI0000167F32	1334			Potential.		SNV	MYO18A,missense_variant,p.Asp1334Gly,ENST00000527372,NM_078471.3;MYO18A,missense_variant,p.Asp1334Gly,ENST00000354329,;MYO18A,missense_variant,p.Asp1334Gly,ENST00000533112,;MYO18A,missense_variant,p.Asp1334Gly,ENST00000531253,NM_203318.1;MYO18A,3_prime_UTR_variant,,ENST00000530254,;MYO18A,upstream_gene_variant,,ENST00000530557,;MYO18A,downstream_gene_variant,,ENST00000532143,;MYO18A,upstream_gene_variant,,ENST00000533652,;	uc002hdt.1	c.4001A>G	4182/7597	4	4			c.4001A>G						17	SNP	c.(4000-4002)GAT>GGT	42	42				0	Broad	myosin 18A isoform a			27424907		0.542	ENSG00000196535	9883	g.chr17:27424907T>C	anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	Esophageal Squamous(182;472 2015 7001 15270 22562)			Esophageal Squamous(182;472 2015 7001 15270 22562)			-46.148935	KEEP	3	0	-1	110	111	3	0	-1	6.682872	110	111	0.015152	1	0	0	0	0	1	0	0	0	--	--		0	C			MYO18A_uc010wbc.1_Missense_Mutation_p.D876G|MYO18A_uc002hds.2_Missense_Mutation_p.D876G|MYO18A_uc010csa.1_Missense_Mutation_p.D1334G|MYO18A_uc002hdu.1_Missense_Mutation_p.D1334G|MYO18A_uc010wbd.1_Missense_Mutation_p.D1003G	266	GBM-76-4926-TP	p.D1334G	T	CTTCAGTGCATCGTACTGGGT	NM_078471	NP_510880	27424907	Q92614	MY18A_HUMAN	0	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		26	4159	-	C	C			Missense_Mutation	1334			Potential.			
MYO18B	84700	broad.mit.edu	GRCh37	22	26291213	26291213	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0128-01	TCGA-06-0128-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335473.7:c.4634C>T	p.Ser1545Leu	p.S1545L	ENST00000335473	NM_032608.5	1545	tCg/tTg	0		T:0	1	T:0		T	S/L	uc003abz.1	protein_coding		CCDS54507.1			4634/7704									ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12	c.(4633-4635)TCG>TTG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF254	myosin XVIIIB		T:0.001		ENSP00000441229	T:0	28/43	3.30E-05			0.000201		7.25E-05			rs537916951,COSM3405561	28/43	.		ENST00000536101	Transcript		T:0.0002		nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	ENSG00000133454	g.chr22:26291213C>T	18150			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=MY18B_HUMAN&rb=1462&re=1780&var=S1545L	NA	getma.org/?cm=var&var=hg19,22,26291213,C,T&fts=all	S1545L	--	--	1																																		MYO18B_uc003aca.1_Missense_Mutation_p.S1426L|MYO18B_uc010guy.1_Missense_Mutation_p.S1427L|MYO18B_uc010guz.1_Missense_Mutation_p.S1425L|MYO18B_uc011aka.1_Missense_Mutation_p.S699L|MYO18B_uc011akb.1_Missense_Mutation_p.S1058L	0,1			possibly_damaging(0.905)	p.S1545L	NM_032608	NP_115997	T:0	deleterious(0.04)	0,1		MYO18B	HGNC	Q8IUG5	MY18B_HUMAN			Q8N903_HUMAN		28	4884	+			UPI0000207402	1545			Potential.|Tail.		SNV	MYO18B,missense_variant,p.Ser1545Leu,ENST00000335473,NM_032608.5;MYO18B,missense_variant,p.Ser1546Leu,ENST00000407587,;MYO18B,missense_variant,p.Ser1545Leu,ENST00000536101,;CTA-125H2.2,non_coding_transcript_exon_variant,,ENST00000453457,;CTA-125H2.2,non_coding_transcript_exon_variant,,ENST00000609275,;CTA-125H2.2,non_coding_transcript_exon_variant,,ENST00000608921,;CTA-125H2.2,non_coding_transcript_exon_variant,,ENST00000609157,;CTA-125H2.2,non_coding_transcript_exon_variant,,ENST00000608507,;CTA-125H2.2,non_coding_transcript_exon_variant,,ENST00000596813,;CTA-125H2.2,non_coding_transcript_exon_variant,,ENST00000594585,;CTA-125H2.2,non_coding_transcript_exon_variant,,ENST00000593715,;CTA-125H2.2,non_coding_transcript_exon_variant,,ENST00000594856,;CTA-125H2.2,non_coding_transcript_exon_variant,,ENST00000600269,;CTA-125H2.2,non_coding_transcript_exon_variant,,ENST00000609570,;CTA-125H2.2,non_coding_transcript_exon_variant,,ENST00000599792,;CTA-125H2.2,intron_variant,,ENST00000600211,;CTA-125H2.2,intron_variant,,ENST00000597284,;CTA-125H2.2,intron_variant,,ENST00000609820,;CTA-125H2.2,intron_variant,,ENST00000597614,;CTA-125H2.2,intron_variant,,ENST00000609809,;CTA-125H2.2,intron_variant,,ENST00000608115,;CTA-125H2.2,intron_variant,,ENST00000597548,;CTA-125H2.2,intron_variant,,ENST00000595102,;CTA-125H2.2,intron_variant,,ENST00000599080,;CTA-125H2.2,intron_variant,,ENST00000594542,;CTA-125H2.2,intron_variant,,ENST00000609889,;CTA-125H2.2,intron_variant,,ENST00000608257,;CTA-125H2.2,intron_variant,,ENST00000609823,;CTA-125H2.2,intron_variant,,ENST00000607895,;CTA-125H2.2,downstream_gene_variant,,ENST00000595093,;CTA-125H2.2,downstream_gene_variant,,ENST00000600903,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;	uc003abz.1	c.4634C>T	4893/8051	1	1			c.4634C>T						22	SNP	c.(4633-4635)TCG>TTG	2	2			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12	Broad	myosin XVIIIB			26291213		0.552	ENSG00000133454	9884	g.chr22:26291213C>T		nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			968			968	23.798804	KEEP	1	7	-1	6	6	1	7	-1	23.811546	6	6	0.470588	1	0	0	0	0	1	0	0	0	--	--		0	T			MYO18B_uc003aca.1_Missense_Mutation_p.S1426L|MYO18B_uc010guy.1_Missense_Mutation_p.S1427L|MYO18B_uc010guz.1_Missense_Mutation_p.S1425L|MYO18B_uc011aka.1_Missense_Mutation_p.S699L|MYO18B_uc011akb.1_Missense_Mutation_p.S1058L	14	GBM-06-0128-TP	p.S1545L	C	AGGCTGGACTCGGAGCTGACA	NM_032608	NP_115997	26291213	Q8IUG5	MY18B_HUMAN	0			28	4884	+	T	T			Missense_Mutation	1545			Potential.|Tail.			
MYO18B	0	broad.mit.edu	GRCh37	22	26423542	26423542	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6282-01	TCGA-76-6282-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000536101.1:c.7602G>A	p.Ala2534=	p.A2534=	ENST00000536101		2534	gcG/gcA	0	T:0.0002		1			A	A	uc003abz.1	protein_coding		CCDS54507.1			7602/7704									ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12	c.(7600-7602)GCG>GCA				myosin XVIIIB			T:0.0002	ENSP00000441229		43/43	1.65E-05	0.000103						6.11E-05	rs368810371,COSM3405563	43/43	.		ENST00000536101	Transcript				nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	ENSG00000133454	g.chr22:26423542G>A	18150			LOW								--	--	1																																		MYO18B_uc003aca.1_Silent_p.A2415A|MYO18B_uc010guy.1_Silent_p.A2416A|MYO18B_uc010guz.1_Silent_p.A2414A|MYO18B_uc011aka.1_Silent_p.A1688A|MYO18B_uc011akb.1_Silent_p.A2047A|MYO18B_uc010gva.1_Silent_p.A517A|MYO18B_uc010gvb.1_RNA	0,1				p.A2534A	NM_032608	NP_115997			0,1		MYO18B	HGNC	Q8IUG5	MY18B_HUMAN			Q8N903_HUMAN		43	7852	+			UPI0000207402	2534					SNV	MYO18B,synonymous_variant,p.=,ENST00000335473,NM_032608.5;MYO18B,synonymous_variant,p.=,ENST00000407587,;MYO18B,synonymous_variant,p.=,ENST00000536101,;MYO18B,synonymous_variant,p.=,ENST00000543971,;MYO18B,synonymous_variant,p.=,ENST00000540454,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;	uc003abz.1	c.7602G>A	7861/8051	1	1			c.7602G>A						22	SNP	c.(7600-7602)GCG>GCA	49	49			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12	Broad	myosin XVIIIB			26423542		0.572	ENSG00000133454	9884	g.chr22:26423542G>A		nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			968			968	12.030329	KEEP	2	6	-1	16	18	2	6	-1	15.601108	16	18	0.171429	1	0	0	0	0	0	0	1	0	--	--		0	A			MYO18B_uc003aca.1_Silent_p.A2415A|MYO18B_uc010guy.1_Silent_p.A2416A|MYO18B_uc010guz.1_Silent_p.A2414A|MYO18B_uc011aka.1_Silent_p.A1688A|MYO18B_uc011akb.1_Silent_p.A2047A|MYO18B_uc010gva.1_Silent_p.A517A|MYO18B_uc010gvb.1_RNA	278	GBM-76-6282-TP	p.A2534A	G	CACGACTTGCGGGTGACGGTG	NM_032608	NP_115997	26423542	Q8IUG5	MY18B_HUMAN	0			43	7852	+	A	A			Silent	2534						
MYO18B	0	broad.mit.edu	GRCh37	22	26159232	26159232	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs79294358	by1000genomes	TCGA-76-6285-01	TCGA-76-6285-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000536101.1:c.74C>T	p.Ser25Leu	p.S25L	ENST00000536101		25	tCg/tTg	0	T:0.0003	T:0	1	T:0		T	S/L	uc003abz.1	protein_coding		CCDS54507.1			74/7704									ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12	c.(73-75)TCG>TTG			Low_complexity_(Seg):seg,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF254	myosin XVIIIB		T:0.0079	T:0	ENSP00000441229	T:0	Mar-43	0.000612	0.000103		0.00854					rs79294358,COSM3405560	Mar-43	common_variant		ENST00000536101	Transcript		T:0.0016		nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	ENSG00000133454	g.chr22:26159232C>T	18150			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=MY18B_HUMAN&rb=1&re=200&var=S25L	NA	getma.org/?cm=var&var=hg19,22,26159232,C,T&fts=all	S25L	--	--	1																																		MYO18B_uc003aca.1_5'UTR|MYO18B_uc010guy.1_5'UTR|MYO18B_uc010guz.1_5'UTR|MYO18B_uc011aka.1_5'UTR	0,1			probably_damaging(0.997)	p.S25L	NM_032608	NP_115997	T:0	deleterious(0)	0,1		MYO18B	HGNC	Q8IUG5	MY18B_HUMAN			Q8N903_HUMAN		3	324	+			UPI0000207402	25					SNV	MYO18B,missense_variant,p.Ser25Leu,ENST00000335473,NM_032608.5;MYO18B,missense_variant,p.Ser25Leu,ENST00000407587,;MYO18B,missense_variant,p.Ser25Leu,ENST00000536101,;MYO18B,missense_variant,p.Ser25Leu,ENST00000539302,;	uc003abz.1	c.74C>T	333/8051	2	2			c.74C>T						22	SNP	c.(73-75)TCG>TTG	43	43			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12	Broad	myosin XVIIIB			26159232		0.542	ENSG00000133454	9884	g.chr22:26159232C>T		nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity		p.S25L(EBC1-Tumor)|p.S25L(SNU308-Tumor)|p.S25L(YD38-Tumor)|p.S25L(FUOV1-Tumor)|p.S25L(KMRC20-Tumor)|p.S25L(RCM1-Tumor)	968		p.S25L(EBC1-Tumor)|p.S25L(SNU308-Tumor)|p.S25L(YD38-Tumor)|p.S25L(FUOV1-Tumor)|p.S25L(KMRC20-Tumor)|p.S25L(RCM1-Tumor)	968	46.520206	KEEP	8	7	-1	11	14	8	7	-1	46.738054	11	14	0.416667	1	0	0	0	0	1	0	0	0	--	--		0	T			MYO18B_uc003aca.1_5'UTR|MYO18B_uc010guy.1_5'UTR|MYO18B_uc010guz.1_5'UTR|MYO18B_uc011aka.1_5'UTR	280	GBM-76-6285-TP	p.S25L	C	CCACCATCCTCGCCCCCTCCT	NM_032608	NP_115997	26159232	Q8IUG5	MY18B_HUMAN	0			3	324	+	T	T			Missense_Mutation	25						
MYO18B	84700		GRCh37	22	26348345	26348345	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000335473.7:c.5926G>C	p.Glu1976Gln	p.E1976Q	ENST00000335473	NM_032608.5	1976	Gag/Cag	0																																																																																																																																																																																																																																												
MYO18B	84700		GRCh37	22	26228907	26228907	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000335473.7:c.3003C>A	p.Asp1001Glu	p.D1001E	ENST00000335473	NM_032608.5	1001	gaC/gaA	0																																																																																																																																																																																																																																												
MYO19	0	broad.mit.edu	GRCh37	17	34856982	34856982	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000431794.3:c.2174C>T	p.Thr725Ile	p.T725I	ENST00000431794	NM_001163735.1	725	aCt/aTt	0	A:0.0009	A:0.0008	1	A:0		A	T/I	uc010wcy.1	protein_coding	YES	CCDS54112.1			2174/2913									ovary(1)	1	c.(2173-2175)ACT>ATT			PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF289,SMART_domains:SM00242,Superfamily_domains:SSF52540	myosin XIX isoform 2		A:0	A:0	ENSP00000409936	A:0	22/26	8.26E-05	0.000918				1.50E-05			rs368587558,COSM3402795,COSM3402794	22/26	common_variant		ENST00000431794	Transcript		A:0.0002		mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	ENSG00000141140	g.chr17:34856982G>A	26234			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=MYO19_HUMAN&rb=686&re=848&var=T725I	NA	getma.org/?cm=var&var=hg19,17,34856982,G,A&fts=all	T725I	--	--	1																																		MYO19_uc002hmw.2_Missense_Mutation_p.T525I|MYO19_uc010cuu.2_RNA	0,1,1	1		benign(0.008)	p.T725I	NM_001163735	NP_001157207	A:0	tolerated(0.45)	0,1,1	MYO19_HUMAN	MYO19	HGNC	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	K7EQ57_HUMAN,K7EP95_HUMAN,K7EMZ0_HUMAN,K7EJW5_HUMAN		23	3166	-		Breast(25;0.00957)|Ovarian(249;0.17)	UPI000173AA19	725					SNV	MYO19,missense_variant,p.Thr725Ile,ENST00000431794,NM_001163735.1;MYO19,missense_variant,p.Thr525Ile,ENST00000268852,NM_025109.5;ZNHIT3,downstream_gene_variant,,ENST00000588253,;ZNHIT3,downstream_gene_variant,,ENST00000592616,NM_001281432.1;ZNHIT3,downstream_gene_variant,,ENST00000590858,;MYO19,3_prime_UTR_variant,,ENST00000586908,;MYO19,non_coding_transcript_exon_variant,,ENST00000588377,;MYO19,non_coding_transcript_exon_variant,,ENST00000590233,;MYO19,intron_variant,,ENST00000591794,;MYO19,upstream_gene_variant,,ENST00000593275,;MYO19,downstream_gene_variant,,ENST00000591477,;MYO19,upstream_gene_variant,,ENST00000592110,;MYO19,downstream_gene_variant,,ENST00000586328,;MYO19,downstream_gene_variant,,ENST00000593222,;ZNHIT3,downstream_gene_variant,,ENST00000586660,;MYO19,downstream_gene_variant,,ENST00000588727,;MYO19,downstream_gene_variant,,ENST00000592735,;	uc010wcy.1	c.2174C>T	2697/4054	2	2			c.2174C>T						17	SNP	c.(2173-2175)ACT>ATT	21	21			ovary(1)	1	Broad	myosin XIX isoform 2			34856982		0.577	ENSG00000141140	9885	g.chr17:34856982G>A		mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity							-33.889002	KEEP	4	4	-1	107	111	4	4	-1	8.938136	107	111	0.028571	1	0	0	0	0	1	0	0	0	--	--		0	A			MYO19_uc002hmw.2_Missense_Mutation_p.T525I|MYO19_uc010cuu.2_RNA	190	GBM-27-1831-TP	p.T725I	G	CGAGTCACCAGTTATGGCTGC	NM_001163735	NP_001157207	34856982	Q96H55	MYO19_HUMAN	0	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	23	3166	-	A	A		Breast(25;0.00957)|Ovarian(249;0.17)	Missense_Mutation	725						
MYO1A	0	broad.mit.edu	GRCh37	12	57442017	57442017	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300119.3:c.91C>T	p.Arg31Cys	p.R31C	ENST00000300119	NM_005379.3	31	Cgc/Tgc	0			1			A	R/C	uc001smw.3	protein_coding		CCDS8929.1			91/3132									skin(4)|ovary(2)|urinary_tract(1)	7	c.(91-93)CGC>TGC			Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF291,SMART_domains:SM00242,Superfamily_domains:SSF52540	myosin IA				ENSP00000300119		28-Feb	3.29E-05					4.50E-05		6.06E-05	rs769355024,COSM1736366	28-Feb	.		ENST00000300119	Transcript	1		sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	ENSG00000166866	g.chr12:57442017G>A	7595			MODERATE		4.24	high	getma.org/?cm=msa&ty=f&p=MYO1A_HUMAN&rb=10&re=681&var=R31C	getma.org/pdb.php?prot=MYO1A_HUMAN&from=10&to=681&var=R31C	getma.org/?cm=var&var=hg19,12,57442017,G,A&fts=all	R31C	--	--	1																																		MYO1A_uc010sqz.1_5'Flank|MYO1A_uc009zpd.2_Missense_Mutation_p.R31C	0,1			probably_damaging(1)	p.R31C	NM_005379	NP_005370		deleterious(0)	0,1	MYO1A_HUMAN	MYO1A	HGNC	Q9UBC5	MYO1A_HUMAN			Q13871_HUMAN,G3V587_HUMAN,F5GWY8_HUMAN,C9JU63_HUMAN		2	334	-			UPI000012FAC2	31			Myosin head-like.		SNV	MYO1A,missense_variant,p.Arg31Cys,ENST00000442789,NM_001256041.1;MYO1A,missense_variant,p.Arg31Cys,ENST00000300119,NM_005379.3;MYO1A,missense_variant,p.Arg31Cys,ENST00000433964,;MYO1A,intron_variant,,ENST00000492945,;MYO1A,upstream_gene_variant,,ENST00000544473,;MYO1A,non_coding_transcript_exon_variant,,ENST00000471791,;MYO1A,upstream_gene_variant,,ENST00000554234,;	uc001smw.3	c.91C>T	342/3621	1	1			c.91C>T						12	SNP	c.(91-93)CGC>TGC	64	64			skin(4)|ovary(2)|urinary_tract(1)	7	Broad	myosin IA			57442017		0.542	ENSG00000166866	9886	g.chr12:57442017G>A	sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity							94.118901	KEEP	19	20	-1	16	23	19	20	-1	94.132608	16	23	0.484375	1	0	0	0	0	1	0	0	0	--	--		0	A			MYO1A_uc010sqz.1_5'Flank|MYO1A_uc009zpd.2_Missense_Mutation_p.R31C	230	GBM-32-1979-TP	p.R31C	G	TTTTCATAGCGAAGCTGAAGA	NM_005379	NP_005370	57442017	Q9UBC5	MYO1A_HUMAN	0			2	334	-	A	A			Missense_Mutation	31			Myosin head-like.			
MYO1A	4640		GRCh37	12	57431824	57431824	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0151-01	TCGA-06-0151-01																				ENST00000442789.2:c.1790G>A	p.Arg597Gln	p.R597Q	ENST00000442789	NM_001256041.1	597	cGa/cAa	0																																																																																																																																																																																																																																												
MYO1B	4430	broad.mit.edu	GRCh37	2	192275792	192275792	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0749-01	TCGA-06-0749-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392318.3:c.2767T>C	p.Cys923Arg	p.C923R	ENST00000392318	NM_001130158.1	923	Tgt/Cgt	0			1			C	C/R	uc010fsg.2	protein_coding		CCDS46477.1			2767/3411									central_nervous_system(5)|large_intestine(2)|ovary(1)	8	c.(2767-2769)TGT>CGT			hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF277	myosin IB isoform 1				ENSP00000306382		27/31									COSM2151872,COSM2151871	27/31	.		ENST00000304164	Transcript				myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	ENSG00000128641	g.chr2:192275792T>C	7596			MODERATE		2.25	medium	getma.org/?cm=msa&ty=f&p=MYO1B_HUMAN&rb=772&re=939&var=C923R	NA	getma.org/?cm=var&var=hg19,2,192275792,T,C&fts=all	C923R	--	--	1																																		MYO1B_uc002usq.2_Missense_Mutation_p.C865R|MYO1B_uc002usr.2_Missense_Mutation_p.C923R|MYO1B_uc002usu.2_Missense_Mutation_p.C168R|MYO1B_uc002usv.2_Missense_Mutation_p.C39R	1,1			probably_damaging(0.997)	p.C923R	NM_001130158	NP_001123630		deleterious(0)	1,1	MYO1B_HUMAN	MYO1B	HGNC	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		Q14777_HUMAN,E7EQD9_HUMAN,C9K0I9_HUMAN,C9JYW1_HUMAN,C9JUP5_HUMAN,B0I1S9_HUMAN		27	3022	+			UPI00001A9466	923					SNV	MYO1B,missense_variant,p.Cys923Arg,ENST00000392318,NM_001130158.1;MYO1B,missense_variant,p.Cys865Arg,ENST00000339514,NM_012223.3;MYO1B,missense_variant,p.Cys923Arg,ENST00000304164,NM_001161819.1;MYO1B,missense_variant,p.Cys894Arg,ENST00000392316,;MYO1B,missense_variant,p.Cys168Arg,ENST00000439065,;MYO1B,missense_variant,p.Cys2Arg,ENST00000427152,;MYO1B,splice_region_variant,,ENST00000490069,;MYO1B,downstream_gene_variant,,ENST00000461714,;	uc010fsg.2	c.2767T>C	2860/4933	4	4			c.2767T>C						2	SNP	c.(2767-2769)TGT>CGT	35	35			central_nervous_system(5)|large_intestine(2)|ovary(1)	8	Broad	myosin IB isoform 1			192275792		0.308	ENSG00000128641	9887	g.chr2:192275792T>C		myosin complex	actin binding|ATP binding|calmodulin binding|motor activity							124.65369	KEEP	27	13	-1	41	27	27	13	-1	126.341951	41	27	0.362745	1	0	0	0	0	1	0	0	0	--	--		0	C			MYO1B_uc002usq.2_Missense_Mutation_p.C865R|MYO1B_uc002usr.2_Missense_Mutation_p.C923R|MYO1B_uc002usu.2_Missense_Mutation_p.C168R|MYO1B_uc002usv.2_Missense_Mutation_p.C39R	69	GBM-06-0749-TP	p.C923R	T	TATCTCACAGTGTAAAAAATA	NM_001130158	NP_001123630	192275792	O43795	MYO1B_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		27	3022	+	C	C			Missense_Mutation	923						
MYO1B	4430	broad.mit.edu	GRCh37	2	192265141	192265141	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-2558-01	TCGA-06-2558-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392318.3:c.2329A>G	p.Lys777Glu	p.K777E	ENST00000392318	NM_001130158.1	777	Aag/Gag	0			1			G	K/E	uc010fsg.2	protein_coding		CCDS46477.1			2329/3411									central_nervous_system(5)|large_intestine(2)|ovary(1)	8	c.(2329-2331)AAG>GAG			PROSITE_profiles:PS50096,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF277,Superfamily_domains:SSF52540	myosin IB isoform 1				ENSP00000306382		22/31									COSM2152609,COSM2152608	22/31	.		ENST00000304164	Transcript				myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	ENSG00000128641	g.chr2:192265141A>G	7596			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=MYO1B_HUMAN&rb=750&re=779&var=K777E	NA	getma.org/?cm=var&var=hg19,2,192265141,A,G&fts=all	K777E	--	--	1																																		MYO1B_uc002usq.2_Missense_Mutation_p.K777E|MYO1B_uc002usr.2_Missense_Mutation_p.K777E|MYO1B_uc002usu.2_Missense_Mutation_p.K51E|MYO1B_uc002usv.2_5'Flank	1,1			benign(0.076)	p.K777E	NM_001130158	NP_001123630		tolerated(0.21)	1,1	MYO1B_HUMAN	MYO1B	HGNC	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		Q14777_HUMAN,E7EQD9_HUMAN,C9K0I9_HUMAN,C9JYW1_HUMAN,C9JUP5_HUMAN,B0I1S9_HUMAN		22	2584	+			UPI00001A9466	777			IQ 3.		SNV	MYO1B,missense_variant,p.Lys777Glu,ENST00000392318,NM_001130158.1;MYO1B,missense_variant,p.Lys777Glu,ENST00000339514,NM_012223.3;MYO1B,missense_variant,p.Lys777Glu,ENST00000304164,NM_001161819.1;MYO1B,missense_variant,p.Lys777Glu,ENST00000392316,;MYO1B,missense_variant,p.Lys51Glu,ENST00000439065,;MYO1B,upstream_gene_variant,,ENST00000490069,;	uc010fsg.2	c.2329A>G	2422/4933	4	4			c.2329A>G						2	SNP	c.(2329-2331)AAG>GAG	28	28			central_nervous_system(5)|large_intestine(2)|ovary(1)	8	Broad	myosin IB isoform 1			192265141		0.473	ENSG00000128641	9887	g.chr2:192265141A>G		myosin complex	actin binding|ATP binding|calmodulin binding|motor activity							181.903998	KEEP	32	31	-1	74	67	32	31	-1	187.42408	74	67	0.314917	1	0	0	0	0	1	0	0	0	--	--		0	G			MYO1B_uc002usq.2_Missense_Mutation_p.K777E|MYO1B_uc002usr.2_Missense_Mutation_p.K777E|MYO1B_uc002usu.2_Missense_Mutation_p.K51E|MYO1B_uc002usv.2_5'Flank	82	GBM-06-2558-TP	p.K777E	A	GAAGCATCAAAAGCGCTGTAA	NM_001130158	NP_001123630	192265141	O43795	MYO1B_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		22	2584	+	G	G			Missense_Mutation	777			IQ 3.			
MYO1B	0	broad.mit.edu	GRCh37	2	192255148	192255148	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01	TCGA-19-1790-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304164.4:c.1912T>C	p.Tyr638His	p.Y638H	ENST00000304164	NM_001161819.1	638	Tat/Cat	0			1			C	Y/H	uc010fsg.2	protein_coding		CCDS46477.1			1912/3411									central_nervous_system(5)|large_intestine(2)|ovary(1)	8	c.(1912-1914)TAT>CAT			Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF277,SMART_domains:SM00242,Superfamily_domains:SSF52540	myosin IB isoform 1				ENSP00000306382		18/31									COSM3748115,COSM3748114	18/31	.		ENST00000304164	Transcript				myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	ENSG00000128641	g.chr2:192255148T>C	7596			MODERATE		1.775	low	getma.org/?cm=msa&ty=f&p=MYO1B_HUMAN&rb=17&re=688&var=Y638H	getma.org/pdb.php?prot=MYO1B_HUMAN&from=17&to=688&var=Y638H	getma.org/?cm=var&var=hg19,2,192255148,T,C&fts=all	Y638H	--	--	1																																		MYO1B_uc002usq.2_Missense_Mutation_p.Y638H|MYO1B_uc002usr.2_Missense_Mutation_p.Y638H|MYO1B_uc002usu.2_5'Flank	1,1			probably_damaging(0.982)	p.Y638H	NM_001130158	NP_001123630		deleterious(0)	1,1	MYO1B_HUMAN	MYO1B	HGNC	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		Q14777_HUMAN,E7EQD9_HUMAN,C9K0I9_HUMAN,C9JYW1_HUMAN,C9JUP5_HUMAN,B0I1S9_HUMAN		18	2167	+			UPI00001A9466	638			Myosin head-like.		SNV	MYO1B,missense_variant,p.Tyr638His,ENST00000392318,NM_001130158.1;MYO1B,missense_variant,p.Tyr638His,ENST00000339514,NM_012223.3;MYO1B,missense_variant,p.Tyr638His,ENST00000304164,NM_001161819.1;MYO1B,missense_variant,p.Tyr638His,ENST00000392316,;MYO1B,upstream_gene_variant,,ENST00000439065,;MYO1B,downstream_gene_variant,,ENST00000494129,;	uc010fsg.2	c.1912T>C	2005/4933	3	3			c.1912T>C						2	SNP	c.(1912-1914)TAT>CAT	13	13			central_nervous_system(5)|large_intestine(2)|ovary(1)	8	Broad	myosin IB isoform 1			192255148		0.468	ENSG00000128641	9887	g.chr2:192255148T>C		myosin complex	actin binding|ATP binding|calmodulin binding|motor activity							-21.233236	KEEP	3	1	-1	55	62	3	1	-1	7.012422	55	62	0.026316	1	0	0	0	0	1	0	0	0	--	--		0	C			MYO1B_uc002usq.2_Missense_Mutation_p.Y638H|MYO1B_uc002usr.2_Missense_Mutation_p.Y638H|MYO1B_uc002usu.2_5'Flank	160	GBM-19-1790-TP	p.Y638H	T	CAGGCAGGCCTATGAACCTTG	NM_001130158	NP_001123630	192255148	O43795	MYO1B_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		18	2167	+	C	C			Missense_Mutation	638			Myosin head-like.			
MYO1B	0	broad.mit.edu	GRCh37	2	192248067	192248067	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T			TCGA-76-4929-01	TCGA-76-4929-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304164.4:c.1352A>T	p.Asn451Ile	p.N451I	ENST00000304164	NM_001161819.1	451	aAt/aTt	0			1			T	N/I	uc010fsg.2	protein_coding		CCDS46477.1			1352/3411									central_nervous_system(5)|large_intestine(2)|ovary(1)	8	c.(1351-1353)AAT>ATT			Pfam_domain:PF00063,Prints_domain:PR00193,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF277,SMART_domains:SM00242,Superfamily_domains:SSF52540	myosin IB isoform 1				ENSP00000306382		15/31									COSM3407426,COSM3407425	15/31	.		ENST00000304164	Transcript				myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	ENSG00000128641	g.chr2:192248067A>T	7596			MODERATE		0.875	low	getma.org/?cm=msa&ty=f&p=MYO1B_HUMAN&rb=17&re=688&var=N451I	getma.org/pdb.php?prot=MYO1B_HUMAN&from=17&to=688&var=N451I	getma.org/?cm=var&var=hg19,2,192248067,A,T&fts=all	N451I	--	--	1																																		MYO1B_uc002usq.2_Missense_Mutation_p.N451I|MYO1B_uc002usr.2_Missense_Mutation_p.N451I|MYO1B_uc002ust.1_Missense_Mutation_p.N89I	1,1			probably_damaging(0.974)	p.N451I	NM_001130158	NP_001123630		deleterious(0.02)	1,1	MYO1B_HUMAN	MYO1B	HGNC	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		Q14777_HUMAN,E7EQD9_HUMAN,C9K0I9_HUMAN,C9JYW1_HUMAN,C9JUP5_HUMAN,B0I1S9_HUMAN		15	1607	+			UPI00001A9466	451			Myosin head-like.		SNV	MYO1B,missense_variant,p.Asn451Ile,ENST00000392318,NM_001130158.1;MYO1B,missense_variant,p.Asn451Ile,ENST00000339514,NM_012223.3;MYO1B,missense_variant,p.Asn451Ile,ENST00000304164,NM_001161819.1;MYO1B,missense_variant,p.Asn451Ile,ENST00000392316,;MYO1B,downstream_gene_variant,,ENST00000496992,;MYO1B,splice_region_variant,,ENST00000494129,;	uc010fsg.2	c.1352A>T	1445/4933	2	2			c.1352A>T						2	SNP	c.(1351-1353)AAT>ATT	29	29			central_nervous_system(5)|large_intestine(2)|ovary(1)	8	Broad	myosin IB isoform 1			192248067		0.313	ENSG00000128641	9887	g.chr2:192248067A>T		myosin complex	actin binding|ATP binding|calmodulin binding|motor activity							80.594026	KEEP	10	15	-1	20	13	10	15	-1	80.842681	20	13	0.428571	1	0	0	0	0	1	0	0	0	--	--		0	T			MYO1B_uc002usq.2_Missense_Mutation_p.N451I|MYO1B_uc002usr.2_Missense_Mutation_p.N451I|MYO1B_uc002ust.1_Missense_Mutation_p.N89I	269	GBM-76-4929-TP	p.N451I	A	CTAATAGAAAATGTGAGTACT	NM_001130158	NP_001123630	192248067	O43795	MYO1B_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		15	1607	+	T	T			Missense_Mutation	451			Myosin head-like.			
MYO1B	4430		GRCh37	2	192141643	192141643	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000392318.3:c.22A>T	p.Thr8Ser	p.T8S	ENST00000392318	NM_001130158.1	8	Acc/Tcc	0																																																																																																																																																																																																																																												
MYO1B	4430		GRCh37	2	192278803	192278803	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000392318.3:c.2903T>C	p.Leu968Pro	p.L968P	ENST00000392318	NM_001130158.1	968	cTg/cCg	0																																																																																																																																																																																																																																												
MYO1D	4642	broad.mit.edu	GRCh37	17	31203857	31203857	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0178-01	TCGA-06-0178-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318217.5:c.34del	p.Ala12GlnfsTer5	p.A12Qfs*5	ENST00000318217	NM_015194.1	12	Gca/ca	0			1			-	A/X	uc002hho.1	protein_coding	YES	CCDS32615.1			34/3021									large_intestine(1)|ovary(1)|central_nervous_system(1)	3	c.(34-36)GCAfs			PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF333,SMART_domains:SM00242,Superfamily_domains:SSF52540	myosin ID				ENSP00000324527		22-Jan										22-Jan	.		ENST00000318217	Transcript				myosin complex	actin binding|ATP binding|calmodulin binding	ENSG00000176658	g.chr17:31203857delC	7598			HIGH								--	--	1																																		MYO1D_uc002hhp.1_Frame_Shift_Del_p.A12fs|MYO1D_uc010wcb.1_Frame_Shift_Del_p.A12fs		1			p.A12fs	NM_015194	NP_056009				MYO1D_HUMAN	MYO1D	HGNC	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		Q8N618_HUMAN,K7EIG7_HUMAN		1	46	-			UPI0000186004	12			Myosin head-like.		deletion	MYO1D,frameshift_variant,p.Ala12GlnfsTer5,ENST00000318217,NM_015194.1;MYO1D,frameshift_variant,p.Ala12GlnfsTer5,ENST00000579584,;MYO1D,frameshift_variant,p.Ala12GlnfsTer5,ENST00000583621,;AC084809.2,non_coding_transcript_exon_variant,,ENST00000435733,;	uc002hho.1	c.34delG	339/5563	5	5			c.34delG						17	DEL	c.(34-36)GCAfs	3	3			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Broad	myosin ID			31203857		0.726	ENSG00000176658	9889	g.chr17:31203857delC		myosin complex	actin binding|ATP binding|calmodulin binding																				0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			MYO1D_uc002hhp.1_Frame_Shift_Del_p.A12fs|MYO1D_uc010wcb.1_Frame_Shift_Del_p.A12fs	38	GBM-06-0178-TP	p.A12fs	C	ACGAAGTCTGCCTTGCCGAAT	NM_015194	NP_056009	31203857	O94832	MYO1D_HUMAN	0	BRCA - Breast invasive adenocarcinoma(9;0.0362)		1	46	-	-	-			Frame_Shift_Del	12			Myosin head-like.			
MYO1D	4642	broad.mit.edu	GRCh37	17	31105570	31105570	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01	TCGA-06-0192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318217.5:c.326C>T	p.Thr109Met	p.T109M	ENST00000318217	NM_015194.1	109	aCg/aTg	0			1			A	T/M	uc002hho.1	protein_coding	YES	CCDS32615.1			326/3021									large_intestine(1)|ovary(1)|central_nervous_system(1)	3	c.(325-327)ACG>ATG			Pfam_domain:PF00063,Prints_domain:PR00193,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF333,SMART_domains:SM00242,Superfamily_domains:SSF52540	myosin ID				ENSP00000324527		22-Mar	8.24E-06					1.50E-05			rs780229350,COSM3402763	22-Mar	.		ENST00000318217	Transcript				myosin complex	actin binding|ATP binding|calmodulin binding	ENSG00000176658	g.chr17:31105570G>A	7598			MODERATE		4.5	high	getma.org/?cm=msa&ty=f&p=MYO1D_HUMAN&rb=11&re=682&var=T109M	getma.org/pdb.php?prot=MYO1D_HUMAN&from=11&to=682&var=T109M	getma.org/?cm=var&var=hg19,17,31105570,G,A&fts=all	T109M	--	--	1																																		MYO1D_uc002hhp.1_Missense_Mutation_p.T109M|MYO1D_uc010wcb.1_Missense_Mutation_p.T109M	0,1	1		probably_damaging(1)	p.T109M	NM_015194	NP_056009		deleterious(0)	0,1	MYO1D_HUMAN	MYO1D	HGNC	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		Q8N618_HUMAN,K7EIG7_HUMAN		3	338	-			UPI0000186004	109			ATP (Potential).|Myosin head-like.		SNV	MYO1D,missense_variant,p.Thr109Met,ENST00000318217,NM_015194.1;MYO1D,missense_variant,p.Thr21Met,ENST00000394649,;MYO1D,missense_variant,p.Thr109Met,ENST00000579584,;MYO1D,missense_variant,p.Thr109Met,ENST00000583621,;	uc002hho.1	c.326C>T	631/5563	2	2			c.326C>T						17	SNP	c.(325-327)ACG>ATG	24	24			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Broad	myosin ID			31105570		0.393	ENSG00000176658	9889	g.chr17:31105570G>A		myosin complex	actin binding|ATP binding|calmodulin binding							-5.590084	KEEP	3	4	-1	45	34	3	4	-1	9.826902	45	34	0.064103	1	0	0	0	0	1	0	0	0	--	--		0	A			MYO1D_uc002hhp.1_Missense_Mutation_p.T109M|MYO1D_uc010wcb.1_Missense_Mutation_p.T109M	44	GBM-06-0192-TP	p.T109M	G	ACTGGCTTCCGTTTTACCAGC	NM_015194	NP_056009	31105570	O94832	MYO1D_HUMAN	0	BRCA - Breast invasive adenocarcinoma(9;0.0362)		3	338	-	A	A			Missense_Mutation	109			ATP (Potential).|Myosin head-like.			
MYO1D	0	broad.mit.edu	GRCh37	17	31107790	31107790	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-3652-01	TCGA-12-3652-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318217.5:c.108G>A	p.Gly36=	p.G36=	ENST00000318217	NM_015194.1	36	ggG/ggA	0			1			T	G	uc002hho.1	protein_coding	YES	CCDS32615.1			108/3021									large_intestine(1)|ovary(1)|central_nervous_system(1)	3	c.(106-108)GGG>GGA			Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF333,SMART_domains:SM00242,Superfamily_domains:SSF52540	myosin ID				ENSP00000324527		22-Feb									COSM3402764	22-Feb	.		ENST00000318217	Transcript				myosin complex	actin binding|ATP binding|calmodulin binding	ENSG00000176658	g.chr17:31107790C>T	7598			LOW								--	--	1																																		MYO1D_uc002hhp.1_Silent_p.G36G|MYO1D_uc010wcb.1_Silent_p.G36G	1	1			p.G36G	NM_015194	NP_056009			1	MYO1D_HUMAN	MYO1D	HGNC	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		Q8N618_HUMAN,K7EIG7_HUMAN		2	120	-			UPI0000186004	36			Myosin head-like.		SNV	MYO1D,synonymous_variant,p.=,ENST00000318217,NM_015194.1;MYO1D,synonymous_variant,p.=,ENST00000579584,;MYO1D,synonymous_variant,p.=,ENST00000583621,;MYO1D,5_prime_UTR_variant,,ENST00000394649,;	uc002hho.1	c.108G>A	413/5563	2	2			c.108G>A						17	SNP	c.(106-108)GGG>GGA	35	35			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Broad	myosin ID			31107790		0.413	ENSG00000176658	9889	g.chr17:31107790C>T		myosin complex	actin binding|ATP binding|calmodulin binding							105.801337	KEEP	22	12	-1	19	22	22	12	-1	105.824551	19	22	0.478873	1	0	0	0	0	0	0	1	0	--	--		0	T			MYO1D_uc002hhp.1_Silent_p.G36G|MYO1D_uc010wcb.1_Silent_p.G36G	127	GBM-12-3652-TP	p.G36G	C	TATAGATGCGCCCTTTTTCAA	NM_015194	NP_056009	31107790	O94832	MYO1D_HUMAN	0	BRCA - Breast invasive adenocarcinoma(9;0.0362)		2	120	-	T	T			Silent	36			Myosin head-like.			
MYO1D	0	broad.mit.edu	GRCh37	17	31105570	31105570	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318217.5:c.326C>T	p.Thr109Met	p.T109M	ENST00000318217	NM_015194.1	109	aCg/aTg	0			1			A	T/M	uc002hho.1	protein_coding	YES	CCDS32615.1			326/3021									large_intestine(1)|ovary(1)|central_nervous_system(1)	3	c.(325-327)ACG>ATG			Pfam_domain:PF00063,Prints_domain:PR00193,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF333,SMART_domains:SM00242,Superfamily_domains:SSF52540	myosin ID				ENSP00000324527		22-Mar	8.24E-06					1.50E-05			rs780229350,COSM3402763	22-Mar	.		ENST00000318217	Transcript				myosin complex	actin binding|ATP binding|calmodulin binding	ENSG00000176658	g.chr17:31105570G>A	7598			MODERATE		4.5	high	getma.org/?cm=msa&ty=f&p=MYO1D_HUMAN&rb=11&re=682&var=T109M	getma.org/pdb.php?prot=MYO1D_HUMAN&from=11&to=682&var=T109M	getma.org/?cm=var&var=hg19,17,31105570,G,A&fts=all	T109M	--	--	1																																		MYO1D_uc002hhp.1_Missense_Mutation_p.T109M|MYO1D_uc010wcb.1_Missense_Mutation_p.T109M	0,1	1		probably_damaging(1)	p.T109M	NM_015194	NP_056009		deleterious(0)	0,1	MYO1D_HUMAN	MYO1D	HGNC	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		Q8N618_HUMAN,K7EIG7_HUMAN		3	338	-			UPI0000186004	109			ATP (Potential).|Myosin head-like.		SNV	MYO1D,missense_variant,p.Thr109Met,ENST00000318217,NM_015194.1;MYO1D,missense_variant,p.Thr21Met,ENST00000394649,;MYO1D,missense_variant,p.Thr109Met,ENST00000579584,;MYO1D,missense_variant,p.Thr109Met,ENST00000583621,;	uc002hho.1	c.326C>T	631/5563	2	2			c.326C>T						17	SNP	c.(325-327)ACG>ATG	24	24			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Broad	myosin ID			31105570		0.393	ENSG00000176658	9889	g.chr17:31105570G>A		myosin complex	actin binding|ATP binding|calmodulin binding							97.729626	KEEP	14	29	-1	44	40	14	29	-1	101.110657	44	40	0.318966	1	0	0	0	0	1	0	0	0	--	--		0	A			MYO1D_uc002hhp.1_Missense_Mutation_p.T109M|MYO1D_uc010wcb.1_Missense_Mutation_p.T109M	190	GBM-27-1831-TP	p.T109M	G	ACTGGCTTCCGTTTTACCAGC	NM_015194	NP_056009	31105570	O94832	MYO1D_HUMAN	0	BRCA - Breast invasive adenocarcinoma(9;0.0362)		3	338	-	A	A			Missense_Mutation	109			ATP (Potential).|Myosin head-like.			
MYO1E	0	broad.mit.edu	GRCh37	15	59502739	59502739	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-4208-01	TCGA-32-4208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288235.4:c.1336G>C	p.Val446Leu	p.V446L	ENST00000288235	NM_004998.3	446	Gta/Cta	0			1			G	V/L	uc002aga.2	protein_coding	YES	CCDS32254.1			1336/3327									central_nervous_system(3)	3	c.(1336-1338)GTA>CTA			Pfam_domain:PF00063,Prints_domain:PR00193,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF341,SMART_domains:SM00242,Superfamily_domains:SSF52540	myosin IE				ENSP00000288235		13/28									COSM3401852	13/28	.		ENST00000288235	Transcript	1		actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	ENSG00000157483	g.chr15:59502739C>G	7599			MODERATE		2.72	medium	getma.org/?cm=msa&ty=f&p=MYO1E_HUMAN&rb=21&re=679&var=V446L	getma.org/pdb.php?prot=MYO1E_HUMAN&from=21&to=679&var=V446L	getma.org/?cm=var&var=hg19,15,59502739,C,G&fts=all	V446L	--	--	1																																			1	1		probably_damaging(0.999)	p.V446L	NM_004998	NP_004989		deleterious(0)	1	MYO1E_HUMAN	MYO1E	HGNC	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	Q4KMR3_HUMAN		13	1708	-			UPI00001FE590	446			Myosin head-like.		SNV	MYO1E,missense_variant,p.Val446Leu,ENST00000288235,NM_004998.3;MYO1E,missense_variant,p.Val166Leu,ENST00000559489,;MYO1E,intron_variant,,ENST00000559269,;LDHAL6B,downstream_gene_variant,,ENST00000307144,NM_033195.2;MYO1E,upstream_gene_variant,,ENST00000560749,;RNU4-80P,downstream_gene_variant,,ENST00000363200,;MYO1E,upstream_gene_variant,,ENST00000558182,;MYO1E,upstream_gene_variant,,ENST00000560642,;	uc002aga.2	c.1336G>C	1736/6193	3	3			c.1336G>C						15	SNP	c.(1336-1338)GTA>CTA	63	63			central_nervous_system(3)	3	Broad	myosin IE			59502739		0.348	ENSG00000157483	9890	g.chr15:59502739C>G	actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity							-43.651759	KEEP	2	2	-1	99	131	2	2	-1	6.836525	99	131	0.015789	1	0	0	0	0	1	0	0	0	--	--		0	G				243	GBM-32-4208-TP	p.V446L	C	AGGTCACATACGATTTTATTA	NM_004998	NP_004989	59502739	Q12965	MYO1E_HUMAN	0		all cancers(107;0.207)	13	1708	-	G	G			Missense_Mutation	446			Myosin head-like.			
MYO1F	4542		GRCh37	19	8616651	8616651	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000338257.8:c.744C>T	p.Asp248=	p.D248=	ENST00000338257	NM_012335.3	248	gaC/gaT	0																																																																																																																																																																																																																																												
MYO1G	64005	broad.mit.edu	GRCh37	7	45016656	45016656	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5856-01	TCGA-06-5856-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258787.7:c.110G>A	p.Arg37His	p.R37H	ENST00000258787	NM_033054.2	37	cGc/cAc	0			1			T	R/H	uc003tmh.2	protein_coding	YES	CCDS34629.1			110/3057									breast(2)|ovary(1)|pancreas(1)	4	c.(109-111)CGC>CAC			PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF359,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	myosin IG				ENSP00000258787		22-Feb	2.47E-05		8.71E-05	0.000117		1.53E-05			rs763720788,COSM3412096	22-Feb	.		ENST00000258787	Transcript				myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	ENSG00000136286	g.chr7:45016656C>T	13880			MODERATE		0.76	neutral	getma.org/?cm=msa&ty=f&p=MYO1G_HUMAN&rb=11&re=694&var=R37H	getma.org/pdb.php?prot=MYO1G_HUMAN&from=11&to=694&var=R37H	getma.org/?cm=var&var=hg19,7,45016656,C,T&fts=all	R37H	--	--	1																																		MYO1G_uc003tmg.2_5'Flank|MYO1G_uc010kym.2_Intron|MYO1G_uc003tmi.1_5'UTR|MYO1G_uc003tmj.2_5'UTR	0,1	1		benign(0.015)	p.R37H	NM_033054	NP_149043		tolerated(0.07)	0,1	MYO1G_HUMAN	MYO1G	HGNC	B0I1T2	MYO1G_HUMAN					2	254	-			UPI00001D747C	37			Myosin head-like.		SNV	MYO1G,missense_variant,p.Arg37His,ENST00000258787,NM_033054.2;MYO1G,missense_variant,p.Arg37His,ENST00000464434,;MYO1G,non_coding_transcript_exon_variant,,ENST00000480503,;MYO1G,non_coding_transcript_exon_variant,,ENST00000483585,;MYO1G,intron_variant,,ENST00000495831,;MYO1G,upstream_gene_variant,,ENST00000488554,;MYO1G,upstream_gene_variant,,ENST00000463516,;	uc003tmh.2	c.110G>A	247/3267	2	2			c.110G>A						7	SNP	c.(109-111)CGC>CAC	48	48			breast(2)|ovary(1)|pancreas(1)	4	Broad	myosin IG			45016656		0.637	ENSG00000136286	9892	g.chr7:45016656C>T		myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity							18.092947	KEEP	6	8	-1	39	33	6	8	-1	27.774861	39	33	0.141026	1	0	0	0	0	1	0	0	0	--	--		0	T			MYO1G_uc003tmg.2_5'Flank|MYO1G_uc010kym.2_Intron|MYO1G_uc003tmi.1_5'UTR|MYO1G_uc003tmj.2_5'UTR	101	GBM-06-5856-TP	p.R37H	C	GGTGTAGATGCGGCCCTTCTC	NM_033054	NP_149043	45016656	B0I1T2	MYO1G_HUMAN	0			2	254	-	T	T			Missense_Mutation	37			Myosin head-like.			
MYO1G	0	broad.mit.edu	GRCh37	7	45016575	45016575	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-41-2575-01	TCGA-41-2575-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258787.7:c.191C>G	p.Ala64Gly	p.A64G	ENST00000258787	NM_033054.2	64	gCc/gGc	0			1			C	A/G	uc003tmh.2	protein_coding	YES	CCDS34629.1			191/3057									breast(2)|ovary(1)|pancreas(1)	4	c.(190-192)GCC>GGC			PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF359,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	myosin IG				ENSP00000258787		22-Feb									COSM3412095	22-Feb	.		ENST00000258787	Transcript				myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	ENSG00000136286	g.chr7:45016575G>C	13880			MODERATE		0.99	low	getma.org/?cm=msa&ty=f&p=MYO1G_HUMAN&rb=11&re=694&var=A64G	getma.org/pdb.php?prot=MYO1G_HUMAN&from=11&to=694&var=A64G	getma.org/?cm=var&var=hg19,7,45016575,G,C&fts=all	A64G	--	--	1																																		MYO1G_uc003tmg.2_5'Flank|MYO1G_uc010kym.2_Intron|MYO1G_uc003tmi.1_5'UTR|MYO1G_uc003tmj.2_5'UTR	1	1		possibly_damaging(0.559)	p.A64G	NM_033054	NP_149043		tolerated(0.09)	1	MYO1G_HUMAN	MYO1G	HGNC	B0I1T2	MYO1G_HUMAN					2	335	-			UPI00001D747C	64			Myosin head-like.		SNV	MYO1G,missense_variant,p.Ala64Gly,ENST00000258787,NM_033054.2;MYO1G,missense_variant,p.Ala64Gly,ENST00000464434,;MYO1G,non_coding_transcript_exon_variant,,ENST00000480503,;MYO1G,non_coding_transcript_exon_variant,,ENST00000483585,;MYO1G,intron_variant,,ENST00000495831,;MYO1G,upstream_gene_variant,,ENST00000488554,;MYO1G,upstream_gene_variant,,ENST00000463516,;	uc003tmh.2	c.191C>G	328/3267	4	4			c.191C>G						7	SNP	c.(190-192)GCC>GGC	35	35			breast(2)|ovary(1)|pancreas(1)	4	Broad	myosin IG			45016575		0.627	ENSG00000136286	9892	g.chr7:45016575G>C		myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity							87.185214	KEEP	22	16	-1	64	67	22	16	-1	98.120476	64	67	0.211268	1	0	0	0	0	1	0	0	0	--	--		0	C			MYO1G_uc003tmg.2_5'Flank|MYO1G_uc010kym.2_Intron|MYO1G_uc003tmi.1_5'UTR|MYO1G_uc003tmj.2_5'UTR	253	GBM-41-2575-TP	p.A64G	G	CTGGTACCTGGCGATGGCCTC	NM_033054	NP_149043	45016575	B0I1T2	MYO1G_HUMAN	0			2	335	-	C	C			Missense_Mutation	64			Myosin head-like.			
MYO1H	283446	broad.mit.edu	GRCh37	12	109843786	109843786	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0878-01	TCGA-06-0878-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310903.5:c.861C>T	p.Asp287=	p.D287=	ENST00000310903		287	gaC/gaT	0			1			T	D	uc010sxn.1	protein_coding	YES	CCDS53826.1			861/3069										0	c.(859-861)GAC>GAT			Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF353,SMART_domains:SM00242,Superfamily_domains:SSF52540	myosin 1H				ENSP00000439182		Aug-32	3.31E-05					3.00E-05		0.000121	rs768193927,COSM3398326,COSM3398327	Aug-32	.		ENST00000310903	Transcript				myosin complex	motor activity	ENSG00000174527	g.chr12:109843786C>T	13879			LOW								--	--	1																																			0,1,1	1			p.D287D	NM_001101421	NP_001094891			0,1,1		MYO1H	HGNC	Q8N1T3	MYO1H_HUMAN			S4R387_HUMAN,F5H3C6_HUMAN		7	861	+			UPI0001AFF951	Error:Variant_position_missing_in_B4DNW6_after_alignment					SNV	MYO1H,synonymous_variant,p.=,ENST00000310903,;MYO1H,synonymous_variant,p.=,ENST00000431443,NM_001101421.3;MYO1H,non_coding_transcript_exon_variant,,ENST00000542883,;	uc010sxn.1	c.861C>T	967/4364	1	1			c.861C>T						12	SNP	c.(859-861)GAC>GAT	10	10				0	Broad	myosin 1H			109843786		0.498	ENSG00000174527	9893	g.chr12:109843786C>T		myosin complex	motor activity							52.724798	KEEP	13	14	-1	56	38	13	14	-1	59.542153	56	38	0.22449	1	0	0	0	0	0	0	1	0	--	--		0	T				74	GBM-06-0878-TP	p.D287D	C	TTGAAGAAGACGACCAAGGCT	NM_001101421	NP_001094891	109843786	Q8N1T3	MYO1H_HUMAN	0			7	861	+	T	T			Silent	Error:Variant_position_missing_in_B4DNW6_after_alignment						
MYO3A	53904	broad.mit.edu	GRCh37	10	26446423	26446423	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-02-0047-01	TCGA-02-0047-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265944.5:c.2978T>A	p.Leu993His	p.L993H	ENST00000265944	NM_017433.4	993	cTt/cAt	0			1			A	L/H	uc001isn.2	protein_coding	YES	CCDS7148.1			2978/4851									ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18	c.(2977-2979)CTT>CAT			Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	myosin IIIA				ENSP00000265944		26/35									COSM3397070	26/35	.		ENST00000265944	Transcript	1		protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	ENSG00000095777	g.chr10:26446423T>A	7601			MODERATE		2.405	medium	getma.org/?cm=msa&ty=f&p=MYO3A_HUMAN&rb=340&re=1041&var=L993H	getma.org/pdb.php?prot=MYO3A_HUMAN&from=340&to=1041&var=L993H	getma.org/?cm=var&var=hg19,10,26446423,T,A&fts=all	L993H	--	--	1																																		MYO3A_uc009xko.1_Missense_Mutation_p.L993H|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	1	1		benign(0.416)	p.L993H	NM_017433	NP_059129		tolerated(0.05)	1	MYO3A_HUMAN	MYO3A	HGNC	Q8NEV4	MYO3A_HUMAN					26	3338	+			UPI000014140A	993			Myosin head-like.		SNV	MYO3A,missense_variant,p.Leu993His,ENST00000265944,NM_017433.4;MYO3A,intron_variant,,ENST00000543632,;	uc001isn.2	c.2978T>A	3144/5581	2	2			c.2978T>A						10	SNP	c.(2977-2979)CTT>CAT	18	18			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18	Broad	myosin IIIA			26446423		0.333	ENSG00000095777	9894	g.chr10:26446423T>A	protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			781			781	40.577521	KEEP	13	15	-1	76	70	13	15	-1	56.617842	76	70	0.165563	1	0	0	0	0	1	0	0	0	--	--		0	A			MYO3A_uc009xko.1_Missense_Mutation_p.L993H|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	3	GBM-02-0047-TP	p.L993H	T	CATCGGATACTTTTTGCTAAC	NM_017433	NP_059129	26446423	Q8NEV4	MYO3A_HUMAN	0			26	3338	+	A	A			Missense_Mutation	993			Myosin head-like.			
MYO3A	53904	broad.mit.edu	GRCh37	10	26305807	26305807	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-1804-01	TCGA-06-1804-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265944.5:c.567G>A	p.Pro189=	p.P189=	ENST00000265944	NM_017433.4	189	ccG/ccA	0			1			A	P	uc001isn.2	protein_coding	YES	CCDS7148.1			567/4851									ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18	c.(565-567)CCG>CCA			Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011	myosin IIIA				ENSP00000265944		Jul-35									COSM1745753,COSM1745754	Jul-35	.		ENST00000265944	Transcript	1		protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	ENSG00000095777	g.chr10:26305807G>A	7601			LOW								--	--	1																																		MYO3A_uc009xko.1_Silent_p.P189P|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Silent_p.P189P|MYO3A_uc001ism.2_Silent_p.P189P	1,1	1			p.P189P	NM_017433	NP_059129			1,1	MYO3A_HUMAN	MYO3A	HGNC	Q8NEV4	MYO3A_HUMAN					7	927	+			UPI000014140A	189			Protein kinase.		SNV	MYO3A,synonymous_variant,p.=,ENST00000265944,NM_017433.4;MYO3A,synonymous_variant,p.=,ENST00000376302,;MYO3A,synonymous_variant,p.=,ENST00000543632,;MYO3A,synonymous_variant,p.=,ENST00000376301,;	uc001isn.2	c.567G>A	733/5581	1	1			c.567G>A						10	SNP	c.(565-567)CCG>CCA	51	51			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18	Broad	myosin IIIA			26305807		0.448	ENSG00000095777	9894	g.chr10:26305807G>A	protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			781			781	34.727025	KEEP	6	7	-1	8	2	6	7	-1	34.830172	8	2	0.578947	1	0	0	0	0	0	0	1	0	--	--		0	A			MYO3A_uc009xko.1_Silent_p.P189P|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Silent_p.P189P|MYO3A_uc001ism.2_Silent_p.P189P	79	GBM-06-1804-TP	p.P189P	G	TAGGAACACCGTTTTGGATGG	NM_017433	NP_059129	26305807	Q8NEV4	MYO3A_HUMAN	0			7	927	+	A	A			Silent	189			Protein kinase.			
MYO3A	0	broad.mit.edu	GRCh37	10	26463063	26463063	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-4068-01	TCGA-19-4068-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265944.5:c.3870C>T	p.Ser1290=	p.S1290=	ENST00000265944	NM_017433.4	1290	agC/agT	0			1			T	S	uc001isn.2	protein_coding	YES	CCDS7148.1			3870/4851									ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18	c.(3868-3870)AGC>AGT			hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140	myosin IIIA				ENSP00000265944		30/35									COSM2156494	30/35	.		ENST00000265944	Transcript	1		protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	ENSG00000095777	g.chr10:26463063C>T	7601			LOW								--	--	1																																		MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	1	1			p.S1290S	NM_017433	NP_059129			1	MYO3A_HUMAN	MYO3A	HGNC	Q8NEV4	MYO3A_HUMAN					30	4230	+			UPI000014140A	1290					SNV	MYO3A,synonymous_variant,p.=,ENST00000265944,NM_017433.4;MYO3A,intron_variant,,ENST00000543632,;	uc001isn.2	c.3870C>T	4036/5581	1	1			c.3870C>T						10	SNP	c.(3868-3870)AGC>AGT	16	16			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18	Broad	myosin IIIA			26463063		0.428	ENSG00000095777	9894	g.chr10:26463063C>T	protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			781			781	227.458277	KEEP	40	38	-1	7	18	40	38	-1	233.683367	7	18	0.771739	1	0	0	0	0	0	0	1	0	--	--		0	T			MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	168	GBM-19-4068-TP	p.S1290S	C	CTACACTTAGCCAAAGGTCAA	NM_017433	NP_059129	26463063	Q8NEV4	MYO3A_HUMAN	0			30	4230	+	T	T			Silent	1290						
MYO3A	0	broad.mit.edu	GRCh37	10	26315330	26315330	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-19-5955-01	TCGA-19-5955-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265944.5:c.822delG	p.Lys274AsnfsTer22	p.K274Nfs*22	ENST00000265944	NM_017433.4	274	aaG/aa	0			1			-	K/X	uc001isn.2	protein_coding	YES	CCDS7148.1			822/4851									ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18	c.(820-822)AAGfs			Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140,PROSITE_profiles:PS50011	myosin IIIA				ENSP00000265944		Oct-35									COSM2156794,COSM2156795	Oct-35	.		ENST00000265944	Transcript	1		protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	ENSG00000095777	g.chr10:26315330delG	7601			HIGH								--	--	1																																		MYO3A_uc009xko.1_Frame_Shift_Del_p.K274fs|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Frame_Shift_Del_p.K274fs	1,1	1			p.K274fs	NM_017433	NP_059129			1,1	MYO3A_HUMAN	MYO3A	HGNC	Q8NEV4	MYO3A_HUMAN					10	1182	+			UPI000014140A	274			Protein kinase.		deletion	MYO3A,frameshift_variant,p.Lys274AsnfsTer22,ENST00000265944,NM_017433.4;MYO3A,frameshift_variant,p.Lys274AsnfsTer22,ENST00000543632,;MYO3A,downstream_gene_variant,,ENST00000376302,;	uc001isn.2	c.822delG	988/5581	5	5			c.822delG						10	DEL	c.(820-822)AAGfs	29	29			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18	Broad	myosin IIIA			26315330		0.328	ENSG00000095777	9894	g.chr10:26315330delG	protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			781			781														0.28	1	1	0	1	0	0	0	0	0	--	--		0	-			MYO3A_uc009xko.1_Frame_Shift_Del_p.K274fs|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Frame_Shift_Del_p.K274fs	175	GBM-19-5955-TP	p.K274fs	G	ATTATGAAAAGCGTCCAACAG	NM_017433	NP_059129	26315330	Q8NEV4	MYO3A_HUMAN	0			10	1182	+	-	-			Frame_Shift_Del	274			Protein kinase.			
MYO3A	0	broad.mit.edu	GRCh37	10	26482157	26482157	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs34204285	by1000genomes	TCGA-27-1837-01	TCGA-27-1837-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265944.5:c.4462A>G	p.Lys1488Glu	p.K1488E	ENST00000265944	NM_017433.4	1488	Aaa/Gaa	0	G:0.0002	G:0	1	G:0		G	K/E	uc001isn.2	protein_coding	YES	CCDS7148.1			4462/4851						benign			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18	c.(4462-4464)AAA>GAA			hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140	myosin IIIA		G:0.0437	G:0.0001	ENSP00000265944	G:0	32/35	0.00378	0.000392	0.000527	0.0468		0.000121	0.00781	0.00215	rs34204285,COSM3397071	32/35	common_variant		ENST00000265944	Transcript	1	G:0.0092	protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	ENSG00000095777	g.chr10:26482157A>G	7601			MODERATE		1.545	low	getma.org/?cm=msa&ty=f&p=MYO3A_HUMAN&rb=1368&re=1567&var=K1488E	NA	getma.org/?cm=var&var=hg19,10,26482157,A,G&fts=all	K1488E	--	--	1																																		MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	1,1	1		benign(0.211)	p.K1488E	NM_017433	NP_059129	G:0.002	tolerated_low_confidence(0.05)	0,1	MYO3A_HUMAN	MYO3A	HGNC	Q8NEV4	MYO3A_HUMAN					32	4822	+			UPI000014140A	1488					SNV	MYO3A,missense_variant,p.Lys1488Glu,ENST00000265944,NM_017433.4;MYO3A,intron_variant,,ENST00000543632,;	uc001isn.2	c.4462A>G	4628/5581	3	3			c.4462A>G						10	SNP	c.(4462-4464)AAA>GAA	64	64			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18	Broad	myosin IIIA			26482157		0.358	ENSG00000095777	9894	g.chr10:26482157A>G	protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			781			781	-5.224023	KEEP	2	3	-1	28	31	2	3	-1	7.105966	28	31	0.051724	1	0	0	0	0	1	0	0	0	--	--		0	G			MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	196	GBM-27-1837-TP	p.K1488E	A	AGAGGAGCCAAAAATATTGAG	NM_017433	NP_059129	26482157	Q8NEV4	MYO3A_HUMAN	0			32	4822	+	G	G			Missense_Mutation	1488						
MYO3A	0	broad.mit.edu	GRCh37	10	26414537	26414537	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	rs141374777		TCGA-27-2521-01	TCGA-27-2521-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265944.5:c.2114G>T	p.Ser705Ile	p.S705I	ENST00000265944	NM_017433.4	705	aGt/aTt	0			1			T	S/I	uc001isn.2	protein_coding	YES	CCDS7148.1			2114/4851									ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18	c.(2113-2115)AGT>ATT			Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140,PROSITE_profiles:PS51456	myosin IIIA				ENSP00000265944		19/35									COSM3397069	19/35	.		ENST00000265944	Transcript	1		protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	ENSG00000095777	g.chr10:26414537G>T	7601			MODERATE		2.095	medium	getma.org/?cm=msa&ty=f&p=MYO3A_HUMAN&rb=340&re=1041&var=S705I	getma.org/pdb.php?prot=MYO3A_HUMAN&from=340&to=1041&var=S705I	getma.org/?cm=var&var=hg19,10,26414537,G,T&fts=all	S705I	--	--	1																																		MYO3A_uc009xko.1_Missense_Mutation_p.S705I|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	1	1		possibly_damaging(0.555)	p.S705I	NM_017433	NP_059129		tolerated(0.15)	1	MYO3A_HUMAN	MYO3A	HGNC	Q8NEV4	MYO3A_HUMAN					19	2474	+			UPI000014140A	705			Myosin head-like.		SNV	MYO3A,missense_variant,p.Ser705Ile,ENST00000265944,NM_017433.4;MYO3A,intron_variant,,ENST00000543632,;	uc001isn.2	c.2114G>T	2280/5581	1	1			c.2114G>T						10	SNP	c.(2113-2115)AGT>ATT	7	7			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18	Broad	myosin IIIA			26414537		0.338	ENSG00000095777	9894	g.chr10:26414537G>T	protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			781			781	-17.218746	KEEP	8	5	0.615384615	100	114	8	5	0.615384615	27.843687	100	114	0.058824	1	0	0	0	0	1	0	0	0	--	--		0	T			MYO3A_uc009xko.1_Missense_Mutation_p.S705I|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	200	GBM-27-2521-TP	p.S705I	G	TCATCACCAAGGTAAAAATTT	NM_017433	NP_059129	26414537	Q8NEV4	MYO3A_HUMAN	0			19	2474	+	T	T			Missense_Mutation	705			Myosin head-like.			
MYO3A	0	broad.mit.edu	GRCh37	10	26312961	26312961	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2494-01	TCGA-32-2494-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265944.5:c.742C>T	p.Pro248Ser	p.P248S	ENST00000265944	NM_017433.4	248	Cca/Tca	0			1			T	P/S	uc001isn.2	protein_coding	YES	CCDS7148.1			742/4851									ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18	c.(742-744)CCA>TCA			Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140,PROSITE_profiles:PS50011	myosin IIIA				ENSP00000265944		Sep-35									COSM3397067,COSM3397068	Sep-35	.		ENST00000265944	Transcript	1		protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	ENSG00000095777	g.chr10:26312961C>T	7601			MODERATE		1.885	low	getma.org/?cm=msa&ty=f&p=MYO3A_HUMAN&rb=21&re=287&var=P248S	getma.org/pdb.php?prot=MYO3A_HUMAN&from=21&to=287&var=P248S	getma.org/?cm=var&var=hg19,10,26312961,C,T&fts=all	P248S	--	--	1																																		MYO3A_uc009xko.1_Missense_Mutation_p.P248S|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Missense_Mutation_p.P248S	1,1	1		probably_damaging(0.987)	p.P248S	NM_017433	NP_059129		deleterious(0.01)	1,1	MYO3A_HUMAN	MYO3A	HGNC	Q8NEV4	MYO3A_HUMAN					9	1102	+			UPI000014140A	248			Protein kinase.		SNV	MYO3A,missense_variant,p.Pro248Ser,ENST00000265944,NM_017433.4;MYO3A,missense_variant,p.Pro248Ser,ENST00000543632,;MYO3A,downstream_gene_variant,,ENST00000376302,;	uc001isn.2	c.742C>T	908/5581	1	1			c.742C>T						10	SNP	c.(742-744)CCA>TCA	3	3			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18	Broad	myosin IIIA			26312961		0.388	ENSG00000095777	9894	g.chr10:26312961C>T	protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			781			781	105.691335	KEEP	12	36	-1	50	66	12	36	-1	111.485089	50	66	0.281481	1	0	0	0	0	1	0	0	0	--	--		0	T			MYO3A_uc009xko.1_Missense_Mutation_p.P248S|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Missense_Mutation_p.P248S	236	GBM-32-2494-TP	p.P248S	C	GAATCCACCCCCAAAACTAAG	NM_017433	NP_059129	26312961	Q8NEV4	MYO3A_HUMAN	0			9	1102	+	T	T			Missense_Mutation	248			Protein kinase.			
MYO3A	53904		GRCh37	10	26465747	26465747	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000265944.5:c.4411C>T	p.Arg1471Ter	p.R1471*	ENST00000265944	NM_017433.4	1471	Cga/Tga	0																																																																																																																																																																																																																																												
MYO3B	0	broad.mit.edu	GRCh37	2	171358331	171358331	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-2491-01	TCGA-32-2491-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408978.4:c.3326A>G	p.Lys1109Arg	p.K1109R	ENST00000408978	NM_138995.4	1109	aAa/aGa	0			1			G	K/R	uc002ufy.2	protein_coding	YES	CCDS42773.1			3326/4026									lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19	c.(3325-3327)AAA>AGA			Superfamily_domains:SSF52540,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF311,PROSITE_profiles:PS50096	myosin IIIB isoform 2				ENSP00000386213		28/35									COSM3407055,COSM3407054	28/35	.		ENST00000408978	Transcript			response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	ENSG00000071909	g.chr2:171358331A>G	15576			MODERATE		1.32	low	getma.org/?cm=msa&ty=f&p=MYO3B_HUMAN&rb=1087&re=1116&var=K1109R	NA	getma.org/?cm=var&var=hg19,2,171358331,A,G&fts=all	K1109R	--	--	1																																		MYO3B_uc002ufv.2_Missense_Mutation_p.K1096R|MYO3B_uc010fqb.1_Missense_Mutation_p.K1096R|MYO3B_uc002ufz.2_Intron|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_Intron|MYO3B_uc002ugb.2_Intron	1,1	1		benign(0.001)	p.K1109R	NM_138995	NP_620482		tolerated(0.18)	1,1	MYO3B_HUMAN	MYO3B	HGNC	Q8WXR4	MYO3B_HUMAN					28	3469	+			UPI000020907B	1109			IQ 2.		SNV	MYO3B,missense_variant,p.Lys1118Arg,ENST00000334231,;MYO3B,missense_variant,p.Lys1109Arg,ENST00000408978,NM_138995.4;MYO3B,intron_variant,,ENST00000409044,NM_001083615.3;MYO3B,downstream_gene_variant,,ENST00000484338,;MYO3B,non_coding_transcript_exon_variant,,ENST00000438642,;MYO3B,intron_variant,,ENST00000602629,;MYO3B,non_coding_transcript_exon_variant,,ENST00000409940,;MYO3B,intron_variant,,ENST00000317935,;	uc002ufy.2	c.3326A>G	3469/5529	3	3			c.3326A>G						2	SNP	c.(3325-3327)AAA>AGA	51	51			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19	Broad	myosin IIIB isoform 2			171358331		0.348	ENSG00000071909	9895	g.chr2:171358331A>G	response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			1118			1118	97.672408	KEEP	20	14	-1	33	39	20	14	-1	100.123191	33	39	0.321839	1	0	0	0	0	1	0	0	0	--	--		0	G			MYO3B_uc002ufv.2_Missense_Mutation_p.K1096R|MYO3B_uc010fqb.1_Missense_Mutation_p.K1096R|MYO3B_uc002ufz.2_Intron|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_Intron|MYO3B_uc002ugb.2_Intron	235	GBM-32-2491-TP	p.K1109R	A	AAATTTAAGAAAATAAGCAAC	NM_138995	NP_620482	171358331	Q8WXR4	MYO3B_HUMAN	0			28	3469	+	G	G			Missense_Mutation	1109			IQ 2.			
MYO3B	140469		GRCh37	2	171243715	171243715	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000408978.4:c.1474T>C	p.Phe492Leu	p.F492L	ENST00000408978	NM_138995.4	492	Ttt/Ctt	0																																																																																																																																																																																																																																												
MYO5A	0	broad.mit.edu	GRCh37	15	52681529	52681529	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-74-6573-01	TCGA-74-6573-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399231.3:c.1574A>C	p.Gln525Pro	p.Q525P	ENST00000399231	NM_000259.3	525	cAa/cCa	0			1			G	Q/P	uc002aby.2	protein_coding	YES	CCDS42037.1			1574/5568									ovary(3)|central_nervous_system(1)	4	c.(1573-1575)CAA>CCA			Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF273,PROSITE_profiles:PS51456	myosin VA isoform 1				ENSP00000382177		13/41									COSM3401819,COSM3401820	13/41	.		ENST00000399231	Transcript	1		actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	ENSG00000197535	g.chr15:52681529T>G	7602			MODERATE		3.03	medium	getma.org/?cm=msa&ty=f&p=MYO5A_HUMAN&rb=71&re=751&var=Q525P	getma.org/pdb.php?prot=MYO5A_HUMAN&from=71&to=751&var=Q525P	getma.org/?cm=var&var=hg19,15,52681529,T,G&fts=all	Q525P	--	--	1																																		MYO5A_uc002abx.3_Missense_Mutation_p.Q525P|MYO5A_uc010uge.1_Missense_Mutation_p.Q394P	1,1	1		probably_damaging(0.999)	p.Q525P	NM_000259	NP_000250		deleterious(0)	1,1	MYO5A_HUMAN	MYO5A	HGNC	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	Q9UES4_HUMAN		13	1818	-			UPI0000E445E1	525			Myosin head-like.		SNV	MYO5A,missense_variant,p.Gln525Pro,ENST00000399231,NM_000259.3;MYO5A,missense_variant,p.Gln525Pro,ENST00000399233,;MYO5A,missense_variant,p.Gln525Pro,ENST00000358212,;MYO5A,missense_variant,p.Gln525Pro,ENST00000356338,NM_001142495.1;MYO5A,missense_variant,p.Gln525Pro,ENST00000553916,;MYO5A,3_prime_UTR_variant,,ENST00000556196,;MYO5A,non_coding_transcript_exon_variant,,ENST00000469611,;	uc002aby.2	c.1574A>C	1818/12225	4	4			c.1574A>C						15	SNP	c.(1573-1575)CAA>CCA	28	28			ovary(3)|central_nervous_system(1)	4	Broad	myosin VA isoform 1			52681529		0.378	ENSG00000197535	9896	g.chr15:52681529T>G	actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity							-8.533296	KEEP	1	2	-1	31	41	1	2	-1	6.875349	31	41	0.043478	1	0	0	0	0	1	0	0	0	--	--		0	G			MYO5A_uc002abx.3_Missense_Mutation_p.Q525P|MYO5A_uc010uge.1_Missense_Mutation_p.Q394P	260	GBM-74-6573-TP	p.Q525P	T	GTACAATTTTTGGGCCCAGGT	NM_000259	NP_000250	52681529	Q9Y4I1	MYO5A_HUMAN	0		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	13	1818	-	G	G			Missense_Mutation	525			Myosin head-like.			
MYO5B	4645	broad.mit.edu	GRCh37	18	47352977	47352977	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01	TCGA-06-2565-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285039.7:c.5411G>A	p.Arg1804Gln	p.R1804Q	ENST00000285039	NM_001080467.2	1804	cGg/cAg	0	G:0	G:0	1	G:0		T	R/Q	uc002leb.2	protein_coding	YES	CCDS42436.1			5411/5547									ovary(2)|skin(2)|central_nervous_system(1)	5	c.(5410-5412)CGG>CAG			hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF356	myosin VB		G:0	G:0.0001	ENSP00000285039	G:0.001	40/40	8.27E-06							6.06E-05	rs201080553,COSM3748037	40/40	.		ENST00000285039	Transcript	1	G:0.0002	protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	ENSG00000167306	g.chr18:47352977C>T	7603			MODERATE		1.755	low	getma.org/?cm=msa&ty=f&p=MYO5B_HUMAN&rb=1786&re=1848&var=R1804Q	NA	getma.org/?cm=var&var=hg19,18,47352977,C,T&fts=all	R1804Q	--	--	1																																		MYO5B_uc002ldz.2_Missense_Mutation_p.R374Q|MYO5B_uc002lea.2_Missense_Mutation_p.R919Q	0,1	1		probably_damaging(0.998)	p.R1804Q	NM_001080467	NP_001073936	G:0	deleterious(0)	0,1	MYO5B_HUMAN	MYO5B	HGNC	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	Q14782_HUMAN,Q0P656_HUMAN,K7EPI3_HUMAN		40	5699	-			UPI00001D7B21	1804					SNV	MYO5B,missense_variant,p.Arg1804Gln,ENST00000285039,NM_001080467.2;MYO5B,missense_variant,p.Arg919Gln,ENST00000324581,;MYO5B,missense_variant,p.Arg922Gln,ENST00000592779,;MYO5B,missense_variant,p.Arg374Gln,ENST00000592688,;SCARNA17,intron_variant,,ENST00000589499,;RP11-886H22.1,missense_variant,p.Arg127Gln,ENST00000590532,;	uc002leb.2	c.5411G>A	5711/9505	1	1			c.5411G>A						18	SNP	c.(5410-5412)CGG>CAG	4	4			ovary(2)|skin(2)|central_nervous_system(1)	5	Broad	myosin VB			47352977		0.408	ENSG00000167306	9897	g.chr18:47352977C>T	protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity							-49.436915	KEEP	1	4	-1	128	121	1	4	-1	7.985752	128	121	0.022222	1	0	0	0	0	1	0	0	0	--	--		0	T			MYO5B_uc002ldz.2_Missense_Mutation_p.R374Q|MYO5B_uc002lea.2_Missense_Mutation_p.R919Q	88	GBM-06-2565-TP	p.R1804Q	C	AGGGTCATTCCGCTCTTGTAG	NM_001080467	NP_001073936	47352977	Q9ULV0	MYO5B_HUMAN	0		READ - Rectum adenocarcinoma(32;0.103)	40	5699	-	T	T			Missense_Mutation	1804						
MYO5B	0	broad.mit.edu	GRCh37	18	47405384	47405384	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285039.7:c.3207C>A	p.Asn1069Lys	p.N1069K	ENST00000285039	NM_001080467.2	1069	aaC/aaA	0			1			T	N/K	uc002leb.2	protein_coding	YES	CCDS42436.1			3207/5547									ovary(2)|skin(2)|central_nervous_system(1)	5	c.(3205-3207)AAC>AAA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF356	myosin VB				ENSP00000285039		24/40	8.28E-06					1.50E-05			rs768343996,COSM2156076	24/40	.		ENST00000285039	Transcript	1		protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	ENSG00000167306	g.chr18:47405384G>T	7603			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=MYO5B_HUMAN&rb=905&re=1104&var=N1069K	NA	getma.org/?cm=var&var=hg19,18,47405384,G,T&fts=all	N1069K	--	--	1																																		MYO5B_uc002lea.2_Missense_Mutation_p.N210K	0,1	1		possibly_damaging(0.489)	p.N1069K	NM_001080467	NP_001073936		tolerated(0.26)	0,1	MYO5B_HUMAN	MYO5B	HGNC	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	Q14782_HUMAN,Q0P656_HUMAN,K7EPI3_HUMAN		24	3495	-			UPI00001D7B21	1069			Potential.		SNV	MYO5B,missense_variant,p.Asn1069Lys,ENST00000285039,NM_001080467.2;MYO5B,missense_variant,p.Asn213Lys,ENST00000592779,;MYO5B,missense_variant,p.Asn210Lys,ENST00000324581,;MYO5B,upstream_gene_variant,,ENST00000587895,;MYO5B,non_coding_transcript_exon_variant,,ENST00000589568,;MYO5B,downstream_gene_variant,,ENST00000585859,;	uc002leb.2	c.3207C>A	3507/9505	2	2			c.3207C>A						18	SNP	c.(3205-3207)AAC>AAA	26	26			ovary(2)|skin(2)|central_nervous_system(1)	5	Broad	myosin VB			47405384		0.488	ENSG00000167306	9897	g.chr18:47405384G>T	protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity							65.767539	KEEP	16	14	0.533333333	39	62	16	14	0.533333333	73.351501	39	62	0.232759	1	0	0	0	0	1	0	0	0	--	--		0	T			MYO5B_uc002lea.2_Missense_Mutation_p.N210K	160	GBM-19-1790-TP	p.N1069K	G	CCTTCACAAGGTTCTGGTACC	NM_001080467	NP_001073936	47405384	Q9ULV0	MYO5B_HUMAN	0		READ - Rectum adenocarcinoma(32;0.103)	24	3495	-	T	T			Missense_Mutation	1069			Potential.			
MYO5B	0	broad.mit.edu	GRCh37	18	47479673	47479674	+	frameshift_variant	Frame_Shift_Del	DEL	TC	TC	-			TCGA-19-2629-01	TCGA-19-2629-01	TC	TC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285039.7:c.1708_1709delGA	p.Asp570HisfsTer4	p.D570Hfs*4	ENST00000285039	NM_001080467.2	570	GAc/c	0			1			-	D/X	uc002leb.2	protein_coding	YES	CCDS42436.1			1708-1709/5547									ovary(2)|skin(2)|central_nervous_system(1)	5	c.(1708-1710)GACfs			Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF356,SMART_domains:SM00242,Superfamily_domains:SSF52540	myosin VB				ENSP00000285039		14/40										14/40	.		ENST00000285039	Transcript	1		protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	ENSG00000167306	g.chr18:47479673_47479674delTC	7603			HIGH								--	--	1																																		MYO5B_uc002lec.1_Frame_Shift_Del_p.D569fs		1			p.D570fs	NM_001080467	NP_001073936				MYO5B_HUMAN	MYO5B	HGNC	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	Q14782_HUMAN,Q0P656_HUMAN,K7EPI3_HUMAN		14	1996_1997	-			UPI00001D7B21	570			Myosin head-like.		deletion	MYO5B,frameshift_variant,p.Asp570HisfsTer4,ENST00000285039,NM_001080467.2;	uc002leb.2	c.1708_1709delGA	2008-2009/9505	5	5			c.1708_1709delGA						18	DEL	c.(1708-1710)GACfs	51	51			ovary(2)|skin(2)|central_nervous_system(1)	5	Broad	myosin VB			47479674		0.52	ENSG00000167306	9897	g.chr18:47479673_47479674delTC	protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity																				0.37	1	1	0	1	0	0	0	0	0	--	--		0	-			MYO5B_uc002lec.1_Frame_Shift_Del_p.D569fs	166	GBM-19-2629-TP	p.D570fs	TC	ATACACCGTGTCTCTGTTTTTC	NM_001080467	NP_001073936	47479673	Q9ULV0	MYO5B_HUMAN	0		READ - Rectum adenocarcinoma(32;0.103)	14	1996_1997	-	-	-			Frame_Shift_Del	570			Myosin head-like.			
MYO5B	0	broad.mit.edu	GRCh37	18	47463738	47463738	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-76-6285-01	TCGA-76-6285-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285039.7:c.1782T>C	p.Asp594=	p.D594=	ENST00000285039	NM_001080467.2	594	gaT/gaC	0			1			G	D	uc002leb.2	protein_coding	YES	CCDS42436.1			1782/5547									ovary(2)|skin(2)|central_nervous_system(1)	5	c.(1780-1782)GAT>GAC			Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF356,SMART_domains:SM00242,Superfamily_domains:SSF52540	myosin VB				ENSP00000285039		15/40	8.27E-06							6.06E-05	rs753253103,COSM3403549	15/40	.		ENST00000285039	Transcript	1		protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	ENSG00000167306	g.chr18:47463738A>G	7603			LOW								--	--	1																																		MYO5B_uc002lec.1_Silent_p.D593D	0,1	1			p.D594D	NM_001080467	NP_001073936			0,1	MYO5B_HUMAN	MYO5B	HGNC	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	Q14782_HUMAN,Q0P656_HUMAN,K7EPI3_HUMAN		15	2070	-			UPI00001D7B21	594			Myosin head-like.		SNV	MYO5B,synonymous_variant,p.=,ENST00000285039,NM_001080467.2;	uc002leb.2	c.1782T>C	2082/9505	3	3			c.1782T>C						18	SNP	c.(1780-1782)GAT>GAC	9	9			ovary(2)|skin(2)|central_nervous_system(1)	5	Broad	myosin VB			47463738		0.507	ENSG00000167306	9897	g.chr18:47463738A>G	protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity							5.179357	KEEP	2	2	-1	20	11	2	2	-1	9.574518	20	11	0.125	1	0	0	0	0	0	0	1	0	--	--		0	G			MYO5B_uc002lec.1_Silent_p.D593D	280	GBM-76-6285-TP	p.D594D	A	GGTCCTTGTCATCATGAAACA	NM_001080467	NP_001073936	47463738	Q9ULV0	MYO5B_HUMAN	0		READ - Rectum adenocarcinoma(32;0.103)	15	2070	-	G	G			Silent	594			Myosin head-like.			
MYO5C	0	broad.mit.edu	GRCh37	15	52537563	52537563	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-5651-01	TCGA-41-5651-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261839.7:c.2166C>T	p.His722=	p.H722=	ENST00000261839	NM_018728.3	722	caC/caT	0			1			A	H	uc010bff.2	protein_coding	YES	CCDS42036.1			2166/5229									ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14	c.(2164-2166)CAC>CAT			PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF313,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	myosin VC				ENSP00000261839		18/41									COSM3401818	18/41	.		ENST00000261839	Transcript				myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	ENSG00000128833	g.chr15:52537563G>A	7604			LOW								--	--	1																																		MYO5C_uc010uga.1_RNA|MYO5C_uc010ugb.1_RNA	1	1			p.H722H	NM_018728	NP_061198			1	MYO5C_HUMAN	MYO5C	HGNC	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	Q14783_HUMAN,H0YM93_HUMAN		18	2303	-			UPI000013D20E	722			Myosin head-like.		SNV	MYO5C,synonymous_variant,p.=,ENST00000261839,NM_018728.3;MYO5C,3_prime_UTR_variant,,ENST00000443683,;MYO5C,3_prime_UTR_variant,,ENST00000560809,;MYO5C,3_prime_UTR_variant,,ENST00000558902,;MYO5C,upstream_gene_variant,,ENST00000559434,;	uc010bff.2	c.2166C>T	2328/6971	1	1			c.2166C>T						15	SNP	c.(2164-2166)CAC>CAT	64	64			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14	Broad	myosin VC			52537563		0.483	ENSG00000128833	9898	g.chr15:52537563G>A		myosin complex	actin binding|ATP binding|calmodulin binding|motor activity							145.30294	KEEP	15	34	-1	7	2	15	34	-1	151.485595	7	2	0.849057	1	0	0	0	0	0	0	1	0	--	--		0	A			MYO5C_uc010uga.1_RNA|MYO5C_uc010ugb.1_RNA	258	GBM-41-5651-TP	p.H722H	G	GGATGAGTCTGTGTAAAACCA	NM_018728	NP_061198	52537563	Q9NQX4	MYO5C_HUMAN	0		all cancers(107;0.0137)	18	2303	-	A	A			Silent	722			Myosin head-like.			
MYO6	4646	broad.mit.edu	GRCh37	6	76599857	76599858	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-06-2559-01	TCGA-06-2559-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369977.3:c.2751dup	p.Gln918ThrfsTer24	p.Q918Tfs*24	ENST00000369977	NM_004999.3	914	-/A	0	A:0.0021	A:0.0083	1	A:0.0014		A	-/X	uc003pih.1	protein_coding	YES	CCDS34487.1			2742-2743/3858									kidney(1)|pancreas(1)	2	c.(2740-2745)CAGAAAfs			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF346,Low_complexity_(Seg):seg	myosin VI		A:0	A:0.0038	ENSP00000358994	A:0	26/35									rs551348450,COSM1446015	26/35	.		ENST00000369977	Transcript	1	A:0.0036	actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	ENSG00000196586	g.chr6:76599857_76599858insA	7605	9		HIGH								--	--	1																																		MYO6_uc003pig.1_Frame_Shift_Ins_p.Q914fs|MYO6_uc003pii.1_Frame_Shift_Ins_p.Q914fs	0,1	1			p.Q914fs	NM_004999	NP_004990	A:0.0061		0,1	MYO6_HUMAN	MYO6	HGNC	Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	Q14784_HUMAN		26	3021_3022	+		all_hematologic(105;0.189)	UPI00000727CF	914_915			Potential.		insertion	MYO6,frameshift_variant,p.Gln918ThrfsTer24,ENST00000369981,;MYO6,frameshift_variant,p.Gln918ThrfsTer24,ENST00000369985,;MYO6,frameshift_variant,p.Gln918ThrfsTer24,ENST00000369977,NM_004999.3;MYO6,frameshift_variant,p.Gln918ThrfsTer24,ENST00000369975,;MYO6,upstream_gene_variant,,ENST00000430435,;	uc003pih.1	c.2742_2743insA	2881-2882/5597	5	5			c.2742_2743insA						6	INS	c.(2740-2745)CAGAAAfs	56	56			kidney(1)|pancreas(1)	2	Broad	myosin VI			76599858		0.381	ENSG00000196586	9899	g.chr6:76599857_76599858insA	actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding																				0.09	1	0	0	1	1	0	0	0	0	--	--		0	A			MYO6_uc003pig.1_Frame_Shift_Ins_p.Q914fs|MYO6_uc003pii.1_Frame_Shift_Ins_p.Q914fs	83	GBM-06-2559-TP	p.Q914fs	-	GTGCATTACAGAAAAAAAAACA	NM_004999	NP_004990	76599857	Q9UM54	MYO6_HUMAN	0		BRCA - Breast invasive adenocarcinoma(397;0.223)	26	3021_3022	+	A	A		all_hematologic(105;0.189)	Frame_Shift_Ins	914_915			Potential.			
MYO6	0	broad.mit.edu	GRCh37	6	76599857	76599858	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-28-5208-01	TCGA-28-5208-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369977.3:c.2751dupA	p.Gln918ThrfsTer24	p.Q918Tfs*24	ENST00000369977	NM_004999.3	914	-/A	0	A:0.0021	A:0.0083	1	A:0.0014		A	-/X	uc003pih.1	protein_coding	YES	CCDS34487.1			2742-2743/3858									kidney(1)|pancreas(1)	2	c.(2740-2745)CAGAAAfs			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF346,Low_complexity_(Seg):seg	myosin VI		A:0	A:0.0038	ENSP00000358994	A:0	26/35									rs551348450,COSM1446015	26/35	.		ENST00000369977	Transcript	1	A:0.0036	actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	ENSG00000196586	g.chr6:76599857_76599858insA	7605	9		HIGH								--	--	1																																		MYO6_uc003pig.1_Frame_Shift_Ins_p.Q914fs|MYO6_uc003pii.1_Frame_Shift_Ins_p.Q914fs	0,1	1			p.Q914fs	NM_004999	NP_004990	A:0.0061		0,1	MYO6_HUMAN	MYO6	HGNC	Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	Q14784_HUMAN		26	3021_3022	+		all_hematologic(105;0.189)	UPI00000727CF	914_915			Potential.		insertion	MYO6,frameshift_variant,p.Gln918ThrfsTer24,ENST00000369981,;MYO6,frameshift_variant,p.Gln918ThrfsTer24,ENST00000369985,;MYO6,frameshift_variant,p.Gln918ThrfsTer24,ENST00000369977,NM_004999.3;MYO6,frameshift_variant,p.Gln918ThrfsTer24,ENST00000369975,;MYO6,upstream_gene_variant,,ENST00000430435,;	uc003pih.1	c.2742_2743insA	2881-2882/5597	5	5			c.2742_2743insA						6	INS	c.(2740-2745)CAGAAAfs	56	56			kidney(1)|pancreas(1)	2	Broad	myosin VI			76599858		0.381	ENSG00000196586	9899	g.chr6:76599857_76599858insA	actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding																				0.03	1	0	0	1	1	0	0	0	0	--	--		0	A			MYO6_uc003pig.1_Frame_Shift_Ins_p.Q914fs|MYO6_uc003pii.1_Frame_Shift_Ins_p.Q914fs	217	GBM-28-5208-TP	p.Q914fs	-	GTGCATTACAGAAAAAAAAACA	NM_004999	NP_004990	76599857	Q9UM54	MYO6_HUMAN	0		BRCA - Breast invasive adenocarcinoma(397;0.223)	26	3021_3022	+	A	A		all_hematologic(105;0.189)	Frame_Shift_Ins	914_915			Potential.			
MYO6	4646		GRCh37	6	76566831	76566834	+	frameshift_variant	Frame_Shift_Del	DEL	AGCA	AGCA	-			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000369977.3:c.1246_1249del	p.Ala416ThrfsTer20	p.A416Tfs*20	ENST00000369977	NM_004999.3	414	gAGCAa/ga	0																																																																																																																																																																																																																																												
MYO6	4646		GRCh37	6	76545638	76545638	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000369977.3:c.518G>C	p.Gly173Ala	p.G173A	ENST00000369977	NM_004999.3	173	gGa/gCa	0																																																																																																																																																																																																																																												
MYO7A	0	broad.mit.edu	GRCh37	11	76901767	76901767	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-4209-01	TCGA-32-4209-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409709.3:c.3776T>C	p.Met1259Thr	p.M1259T	ENST00000409709	NM_000260.3	1259	aTg/aCg	0			1			C	M/T	uc001oyb.2	protein_coding	YES	CCDS53683.1			3776/6648									ovary(3)|breast(1)	4	c.(3775-3777)ATG>ACG			PROSITE_profiles:PS50057,SMART_domains:SM00295,Superfamily_domains:SSF54236	myosin VIIA isoform 1				ENSP00000386331		30/49									COSM3398144	30/49	.		ENST00000409709	Transcript	1		actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	ENSG00000137474	g.chr11:76901767T>C	7606			MODERATE		2.635	medium	getma.org/?cm=msa&ty=f&p=MYO7A_HUMAN&rb=1258&re=1602&var=M1259T	getma.org/pdb.php?prot=MYO7A_HUMAN&from=1258&to=1602&var=M1259T	getma.org/?cm=var&var=hg19,11,76901767,T,C&fts=all	M1259T	--	--	1																																		MYO7A_uc010rsm.1_Missense_Mutation_p.M1248T|MYO7A_uc001oyc.2_Missense_Mutation_p.M1259T|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Missense_Mutation_p.M470T	1	1		benign(0.431)	p.M1259T	NM_000260	NP_000251		tolerated(0.58)	1	MYO7A_HUMAN	MYO7A	HGNC	Q13402	MYO7A_HUMAN					30	4048	+			UPI00001FAFE6	1259			FERM 1.		SNV	MYO7A,missense_variant,p.Met1259Thr,ENST00000409709,NM_000260.3;MYO7A,missense_variant,p.Met1259Thr,ENST00000458637,NM_001127180.1;MYO7A,missense_variant,p.Met1248Thr,ENST00000409619,;MYO7A,missense_variant,p.Met440Thr,ENST00000458169,;MYO7A,non_coding_transcript_exon_variant,,ENST00000481328,;MYO7A,non_coding_transcript_exon_variant,,ENST00000467137,;	uc001oyb.2	c.3776T>C	4048/7462	3	3			c.3776T>C						11	SNP	c.(3775-3777)ATG>ACG	10	10			ovary(3)|breast(1)	4	Broad	myosin VIIA isoform 1			76901767		0.597	ENSG00000137474	9900	g.chr11:76901767T>C	actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity							0.842112	KEEP	0	2	-1	17	16	0	2	-1	6.664669	17	16	0.066667	1	0	0	0	0	1	0	0	0	--	--		0	C			MYO7A_uc010rsm.1_Missense_Mutation_p.M1248T|MYO7A_uc001oyc.2_Missense_Mutation_p.M1259T|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Missense_Mutation_p.M470T	244	GBM-32-4209-TP	p.M1259T	T	AAGCCAATCATGTTGCCCGTG	NM_000260	NP_000251	76901767	Q13402	MYO7A_HUMAN	0			30	4048	+	C	C			Missense_Mutation	1259			FERM 1.			
MYO7B	4648	broad.mit.edu	GRCh37	2	128342397	128342399	+	inframe_deletion	In_Frame_Del	DEL	CAA	CAA	-			TCGA-06-0124-01	TCGA-06-0124-01	CAA	CAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428314.1:c.1605_1607del	p.Asn535del	p.N535del	ENST00000428314	NM_001080527.1	533	gcCAAc/gcc	0			1			-	AN/A	uc002top.2	protein_coding		CCDS46405.1			1599-1601/6351									ovary(1)|pancreas(1)	2	c.(1597-1602)GCCAAC>GCC			PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF352,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	myosin VIIB				ENSP00000386461		13/46										13/46	.		ENST00000409816	Transcript				apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	ENSG00000169994	g.chr2:128342397_128342399delCAA	7607	6		MODERATE								--	--	1																																							p.N535del	NM_001080527	NP_001073996				MYO7B_HUMAN	MYO7B	HGNC	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	C9JC21_HUMAN,B9A063_HUMAN		14	1652_1654	+	Colorectal(110;0.1)		UPI00006C04F0	535			Myosin head-like.		deletion	MYO7B,inframe_deletion,p.Asn535del,ENST00000389524,;MYO7B,inframe_deletion,p.Asn535del,ENST00000428314,NM_001080527.1;MYO7B,inframe_deletion,p.Asn535del,ENST00000409816,;	uc002top.2	c.1599_1601delCAA	1631-1633/6694	5	5			c.1599_1601delCAA						2	DEL	c.(1597-1602)GCCAAC>GCC	14	14			ovary(1)|pancreas(1)	2	Broad	myosin VIIB			128342399		0.571	ENSG00000169994	9901	g.chr2:128342397_128342399delCAA		apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity																				0.27	1	1	0	1	0	0	0	0	0	--	--		0	-				11	GBM-06-0124-TP	p.N535del	CAA	GCGTCCATGCCAACAACAAGGCC	NM_001080527	NP_001073996	128342397	Q6PIF6	MYO7B_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.0753)	14	1652_1654	+	-	-	Colorectal(110;0.1)		In_Frame_Del	535			Myosin head-like.			
MYO7B	0	broad.mit.edu	GRCh37	2	128370138	128370138	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01	TCGA-16-0846-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409816.2:c.3280C>T	p.His1094Tyr	p.H1094Y	ENST00000409816		1094	Cac/Tac	0			1			T	H/Y	uc002top.2	protein_coding		CCDS46405.1			3280/6351									ovary(1)|pancreas(1)	2	c.(3280-3282)CAC>TAC			PROSITE_profiles:PS51016,Pfam_domain:PF00784,SMART_domains:SM00139	myosin VIIB				ENSP00000386461		24/46									COSM3406845,COSM3406844	24/46	.		ENST00000409816	Transcript				apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	ENSG00000169994	g.chr2:128370138C>T	7607			MODERATE		2.23	medium	getma.org/?cm=msa&ty=f&p=MYO7B_HUMAN&rb=1087&re=1192&var=H1094Y	getma.org/pdb.php?prot=MYO7B_HUMAN&from=1087&to=1192&var=H1094Y	getma.org/?cm=var&var=hg19,2,128370138,C,T&fts=all	H1094Y	--	--	1																																			1,1			possibly_damaging(0.717)	p.H1094Y	NM_001080527	NP_001073996		deleterious(0)	1,1	MYO7B_HUMAN	MYO7B	HGNC	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	C9JC21_HUMAN,B9A063_HUMAN		25	3333	+	Colorectal(110;0.1)		UPI00006C04F0	1094			MyTH4 1.		SNV	MYO7B,missense_variant,p.His1094Tyr,ENST00000389524,;MYO7B,missense_variant,p.His1094Tyr,ENST00000428314,NM_001080527.1;MYO7B,missense_variant,p.His1094Tyr,ENST00000409816,;MYO7B,downstream_gene_variant,,ENST00000563538,;	uc002top.2	c.3280C>T	3312/6694	1	1			c.3280C>T						2	SNP	c.(3280-3282)CAC>TAC	5	5			ovary(1)|pancreas(1)	2	Broad	myosin VIIB			128370138		0.602	ENSG00000169994	9901	g.chr2:128370138C>T		apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity							10.16116	KEEP	4	2	-1	13	9	4	2	-1	12.253834	13	9	0.2	1	0	0	0	0	1	0	0	0	--	--		0	T				155	GBM-16-0846-TP	p.H1094Y	C	GGAGAAGGTGCACTTCATCGT	NM_001080527	NP_001073996	128370138	Q6PIF6	MYO7B_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.0753)	25	3333	+	T	T	Colorectal(110;0.1)		Missense_Mutation	1094			MyTH4 1.			
MYO7B	4648		GRCh37	2	128366343	128366343	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000428314.1:c.2704C>T	p.Arg902Cys	p.R902C	ENST00000428314	NM_001080527.1	902	Cgc/Tgc	0																																																																																																																																																																																																																																												
MYO7B	4648		GRCh37	2	128384614	128384614	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000428314.1:c.4202G>A	p.Arg1401His	p.R1401H	ENST00000428314	NM_001080527.1	1401	cGc/cAc	0																																																																																																																																																																																																																																												
MYO9A	0	broad.mit.edu	GRCh37	15	72195395	72195395	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-4925-01	TCGA-76-4925-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356056.5:c.2887A>G	p.Ser963Gly	p.S963G	ENST00000356056	NM_006901.3	963	Agc/Ggc	0			1			C	S/G	uc002atl.3	protein_coding	YES	CCDS10239.1			2887/7647									ovary(1)|pancreas(1)|skin(1)	3	c.(2887-2889)AGC>GGC			PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF9,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540	myosin IXA				ENSP00000348349		22/42									COSM3401901,COSM3401902	22/42	.		ENST00000356056	Transcript			regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	ENSG00000066933	g.chr15:72195395T>C	7608			MODERATE		1.03	low	getma.org/?cm=msa&ty=f&p=MYO9A_HUMAN&rb=819&re=1004&var=S963G	getma.org/pdb.php?prot=MYO9A_HUMAN&from=819&to=1004&var=S963G	getma.org/?cm=var&var=hg19,15,72195395,T,C&fts=all	S963G	--	--	1																																		MYO9A_uc010biq.2_Missense_Mutation_p.S583G|MYO9A_uc002atn.1_Missense_Mutation_p.S944G	1,1	1		benign(0.027)	p.S963G	NM_006901	NP_008832		tolerated(0.13)	1,1	MYO9A_HUMAN	MYO9A	HGNC	B2RTY4	MYO9A_HUMAN			H3BSU8_HUMAN,H3BMS3_HUMAN		22	3360	-			UPI000013D213	963			Myosin head-like 2.		SNV	MYO9A,missense_variant,p.Ser963Gly,ENST00000356056,NM_006901.3;MYO9A,missense_variant,p.Ser963Gly,ENST00000424560,;MYO9A,missense_variant,p.Ser944Gly,ENST00000444904,;MYO9A,missense_variant,p.Ser963Gly,ENST00000564571,;MYO9A,missense_variant,p.Ser583Gly,ENST00000566885,;MYO9A,upstream_gene_variant,,ENST00000561618,;MYO9A,non_coding_transcript_exon_variant,,ENST00000563542,;MYO9A,downstream_gene_variant,,ENST00000566744,;	uc002atl.3	c.2887A>G	3360/12409	3	3			c.2887A>G						15	SNP	c.(2887-2889)AGC>GGC	53	53			ovary(1)|pancreas(1)|skin(1)	3	Broad	myosin IXA			72195395		0.269	ENSG00000066933	9902	g.chr15:72195395T>C	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity							-14.554917	KEEP	3	0	-1	49	51	3	0	-1	6.540702	49	51	0.033708	1	0	0	0	0	1	0	0	0	--	--		0	C			MYO9A_uc010biq.2_Missense_Mutation_p.S583G|MYO9A_uc002atn.1_Missense_Mutation_p.S944G	265	GBM-76-4925-TP	p.S963G	T	TGGAAGTGGCTCACAAAATCC	NM_006901	NP_008832	72195395	B2RTY4	MYO9A_HUMAN	0			22	3360	-	C	C			Missense_Mutation	963			Myosin head-like 2.			
MYO9B	4650	broad.mit.edu	GRCh37	19	17309077	17309077	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01	TCGA-06-0195-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000595618.1:c.4198C>T	p.Pro1400Ser	p.P1400S	ENST00000595618	NM_001130065.1	1400	Cca/Tca	0			1			T	P/S	uc010eak.2	protein_coding					4198/6474									breast(1)	1	c.(4198-4200)CCA>TCA			hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF306	myosin IXB isoform 1				ENSP00000471367		24/40									COSM3403907,COSM3403906	24/40	.		ENST00000594824	Transcript	1		actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	ENSG00000099331	g.chr19:17309077C>T	7609			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=MYO9B_HUMAN&rb=1246&re=1445&var=P1400S	NA	getma.org/?cm=var&var=hg19,19,17309077,C,T&fts=all	P1400S	--	--	1																																		MYO9B_uc002nfi.2_Missense_Mutation_p.P1400S|MYO9B_uc002nfj.1_Missense_Mutation_p.P1400S|MYO9B_uc002nfl.1_5'UTR	1,1			benign(0.005)	p.P1400S	NM_004145	NP_004136		tolerated(0.66)	1,1		MYO9B	HGNC	Q13459	MYO9B_HUMAN			M0R0P8_HUMAN		24	4350	+			UPI0002A47676	1400			Tail.		SNV	MYO9B,missense_variant,p.Pro1400Ser,ENST00000595618,NM_001130065.1,NM_004145.3;MYO9B,missense_variant,p.Pro1400Ser,ENST00000594824,;MYO9B,missense_variant,p.Pro1400Ser,ENST00000397274,;MYO9B,missense_variant,p.Pro1400Ser,ENST00000595641,;MYO9B,non_coding_transcript_exon_variant,,ENST00000593533,;MYO9B,upstream_gene_variant,,ENST00000599420,;MYO9B,upstream_gene_variant,,ENST00000602158,;	uc010eak.2	c.4198C>T	4345/7595	2	2			c.4198C>T						19	SNP	c.(4198-4200)CCA>TCA	28	28			breast(1)	1	Broad	myosin IXB isoform 1			17309077		0.622	ENSG00000099331	9903	g.chr19:17309077C>T	actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity							41.701217	KEEP	6	12	-1	32	19	6	12	-1	44.591366	32	19	0.263158	1	0	0	0	0	1	0	0	0	--	--		0	T			MYO9B_uc002nfi.2_Missense_Mutation_p.P1400S|MYO9B_uc002nfj.1_Missense_Mutation_p.P1400S|MYO9B_uc002nfl.1_5'UTR	45	GBM-06-0195-TP	p.P1400S	C	ATCCTCCCTCCCAGACGCAGG	NM_004145	NP_004136	17309077	Q13459	MYO9B_HUMAN	0			24	4350	+	T	T			Missense_Mutation	1400			Tail.			
MYO9B	4650	broad.mit.edu	GRCh37	19	17212559	17212559	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5856-01	TCGA-06-5856-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000595618.1:c.32G>A	p.Arg11His	p.R11H	ENST00000595618	NM_001130065.1	11	cGc/cAc	0			1			A	R/H	uc010eak.2	protein_coding					32/6474									breast(1)	1	c.(31-33)CGC>CAC			hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF306	myosin IXB isoform 1				ENSP00000471367		Feb-40	2.49E-05		0.000301					0.000102	rs750726495,COSM3403903,COSM3403902	Feb-40	.		ENST00000594824	Transcript	1		actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	ENSG00000099331	g.chr19:17212559G>A	7609			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=MYO9B_HUMAN&rb=1&re=939&var=R11H	NA	getma.org/?cm=var&var=hg19,19,17212559,G,A&fts=all	R11H	--	--	1																																		MYO9B_uc002nfi.2_Missense_Mutation_p.R11H|MYO9B_uc002nfj.1_Missense_Mutation_p.R11H	0,1,1			benign(0.005)	p.R11H	NM_004145	NP_004136		tolerated(0.09)	0,1,1		MYO9B	HGNC	Q13459	MYO9B_HUMAN			M0R0P8_HUMAN		2	184	+			UPI0002A47676	11			Myosin head-like.		SNV	MYO9B,missense_variant,p.Arg11His,ENST00000595618,NM_001130065.1,NM_004145.3;MYO9B,missense_variant,p.Arg11His,ENST00000594824,;MYO9B,missense_variant,p.Arg11His,ENST00000397274,;MYO9B,missense_variant,p.Arg11His,ENST00000595641,;CTD-2528A14.5,upstream_gene_variant,,ENST00000597045,;MYO9B,upstream_gene_variant,,ENST00000593411,;	uc010eak.2	c.32G>A	179/7595	2	2			c.32G>A						19	SNP	c.(31-33)CGC>CAC	42	42			breast(1)	1	Broad	myosin IXB isoform 1			17212559		0.692	ENSG00000099331	9903	g.chr19:17212559G>A	actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity							18.753034	KEEP	1	5	-1	3	0	1	5	-1	19.207402	3	0	0.75	1	0	0	0	0	1	0	0	0	--	--		0	A			MYO9B_uc002nfi.2_Missense_Mutation_p.R11H|MYO9B_uc002nfj.1_Missense_Mutation_p.R11H	101	GBM-06-5856-TP	p.R11H	G	AGCTCGGGCCGCCGGGAGCAG	NM_004145	NP_004136	17212559	Q13459	MYO9B_HUMAN	0			2	184	+	A	A			Missense_Mutation	11			Myosin head-like.			
MYO9B	0	broad.mit.edu	GRCh37	19	17312748	17312748	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01	TCGA-16-0846-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000594824.1:c.4577G>A	p.Arg1526His	p.R1526H	ENST00000594824		1526	cGt/cAt	0			1			A	R/H	uc010eak.2	protein_coding					4577/6474									breast(1)	1	c.(4576-4578)CGT>CAT			hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF306	myosin IXB isoform 1				ENSP00000471367		27/40									COSM3403909,COSM3403908	27/40	.		ENST00000594824	Transcript	1		actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	ENSG00000099331	g.chr19:17312748G>A	7609			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=MYO9B_HUMAN&rb=1446&re=1645&var=R1526H	NA	getma.org/?cm=var&var=hg19,19,17312748,G,A&fts=all	R1526H	--	--	1																																		MYO9B_uc002nfi.2_Missense_Mutation_p.R1526H|MYO9B_uc002nfj.1_Missense_Mutation_p.R1526H|MYO9B_uc002nfl.1_Missense_Mutation_p.R75H	1,1			possibly_damaging(0.855)	p.R1526H	NM_004145	NP_004136		tolerated(0.07)	1,1		MYO9B	HGNC	Q13459	MYO9B_HUMAN			M0R0P8_HUMAN		27	4729	+			UPI0002A47676	1526			Tail.		SNV	MYO9B,missense_variant,p.Arg1526His,ENST00000595618,NM_001130065.1,NM_004145.3;MYO9B,missense_variant,p.Arg1526His,ENST00000594824,;MYO9B,missense_variant,p.Arg1526His,ENST00000397274,;MYO9B,missense_variant,p.Arg1526His,ENST00000595641,;MYO9B,upstream_gene_variant,,ENST00000597073,;MYO9B,upstream_gene_variant,,ENST00000596942,;MYO9B,non_coding_transcript_exon_variant,,ENST00000593533,;MYO9B,upstream_gene_variant,,ENST00000599420,;MYO9B,upstream_gene_variant,,ENST00000602158,;	uc010eak.2	c.4577G>A	4724/7595	1	1			c.4577G>A						19	SNP	c.(4576-4578)CGT>CAT	62	62			breast(1)	1	Broad	myosin IXB isoform 1			17312748		0.572	ENSG00000099331	9903	g.chr19:17312748G>A	actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity							8.492045	KEEP	0	5	-1	8	12	0	5	-1	10.58028	8	12	0.181818	1	0	0	0	0	1	0	0	0	--	--		0	A			MYO9B_uc002nfi.2_Missense_Mutation_p.R1526H|MYO9B_uc002nfj.1_Missense_Mutation_p.R1526H|MYO9B_uc002nfl.1_Missense_Mutation_p.R75H	155	GBM-16-0846-TP	p.R1526H	G	AATGACCTCCGTTCCCAGAAG	NM_004145	NP_004136	17312748	Q13459	MYO9B_HUMAN	0			27	4729	+	A	A			Missense_Mutation	1526			Tail.			
MYOC	4653	broad.mit.edu	GRCh37	1	171621317	171621317	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-0213-01	TCGA-06-0213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000037502.6:c.435C>A	p.Leu145=	p.L145=	ENST00000037502	NM_000261.1	145	ctC/ctA	0			1			T	L	uc001ghu.2	protein_coding	YES	CCDS1297.1			435/1515									lung(1)	1	c.(433-435)CTC>CTA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF11	myocilin precursor				ENSP00000037502		3-Jan									COSM3399997	3-Jan	.		ENST00000037502	Transcript	1		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	ENSG00000034971	g.chr1:171621317G>T	7610			LOW								--	--	1																																		MYOC_uc010pmk.1_Silent_p.L87L	1	1			p.L145L	NM_000261	NP_000252			1	MYOC_HUMAN	MYOC	HGNC	Q99972	MYOC_HUMAN			B4DV60_HUMAN		1	457	-	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		UPI00000012D6	145			Potential.		SNV	MYOC,synonymous_variant,p.=,ENST00000037502,NM_000261.1;	uc001ghu.2	c.435C>A	507/2095	2	2			c.435C>A						1	SNP	c.(433-435)CTC>CTA	28	28			lung(1)	1	Broad	myocilin precursor			171621317		0.577	ENSG00000034971	9904	g.chr1:171621317G>T	anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity							95.388992	KEEP	23	34	0.403508772	138	131	23	34	0.403508772	125.153061	138	131	0.180645	1	0	0	0	0	0	0	1	0	--	--		0	T			MYOC_uc010pmk.1_Silent_p.L87L	49	GBM-06-0213-TP	p.L145L	G	TGTCTCGGAGGAGGTTGCTGT	NM_000261	NP_000252	171621317	Q99972	MYOC_HUMAN	0			1	457	-	T	T	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		Silent	145			Potential.			
MYOCD	93649	broad.mit.edu	GRCh37	17	12649324	12649324	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0211-01	TCGA-06-0211-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000425538.1:c.1060T>G	p.Ser354Ala	p.S354A	ENST00000425538	NM_001146312.1	354	Tct/Gct	0			1			G	S/A	uc002gnn.2	protein_coding		CCDS11163.1			1060/2817									central_nervous_system(2)|skin(2)|ovary(1)	5	c.(1060-1062)TCT>GCT			hmmpanther:PTHR22793,hmmpanther:PTHR22793:SF11	myocardin isoform 2				ENSP00000341835		13-Sep									COSM2150796,COSM3402607,COSM2150795	13-Sep	.		ENST00000343344	Transcript			cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	ENSG00000141052	g.chr17:12649324T>G	16067			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=MYCD_HUMAN&rb=332&re=370&var=S354A	NA	getma.org/?cm=var&var=hg19,17,12649324,T,G&fts=all	S354A	--	--	1																																		MYOCD_uc002gno.2_Missense_Mutation_p.S354A|MYOCD_uc002gnp.1_Missense_Mutation_p.S258A|MYOCD_uc002gnq.2_Missense_Mutation_p.S73A	1,1,1			benign(0.011)	p.S354A	NM_153604	NP_705832		tolerated(0.21)	1,1,1	MYCD_HUMAN	MYOCD	HGNC	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)			9	1359	+			UPI0000062264	354					SNV	MYOCD,missense_variant,p.Ser354Ala,ENST00000425538,NM_001146312.1,NM_153604.2;MYOCD,missense_variant,p.Ser59Ala,ENST00000443061,;MYOCD,missense_variant,p.Ser354Ala,ENST00000343344,;AC005358.1,missense_variant,p.Ser258Ala,ENST00000609971,NM_001146313.1;MYOCD,non_coding_transcript_exon_variant,,ENST00000395988,;	uc002gnn.2	c.1060T>G	1060/2817	3	3			c.1060T>G						17	SNP	c.(1060-1062)TCT>GCT	56	56			central_nervous_system(2)|skin(2)|ovary(1)	5	Broad	myocardin isoform 2			12649324		0.408	ENSG00000141052	9905	g.chr17:12649324T>G	cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding							508.602369	KEEP	63	85	-1	87	70	63	85	-1	508.664527	87	70	0.483986	1	0	0	0	0	1	0	0	0	--	--		0	G			MYOCD_uc002gno.2_Missense_Mutation_p.S354A|MYOCD_uc002gnp.1_Missense_Mutation_p.S258A|MYOCD_uc002gnq.2_Missense_Mutation_p.S73A	48	GBM-06-0211-TP	p.S354A	T	AAACAGTTTTTCTGGACAAAC	NM_153604	NP_705832	12649324	Q8IZQ8	MYCD_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	9	1359	+	G	G			Missense_Mutation	354						
MYOCD	93649	broad.mit.edu	GRCh37	17	12666835	12666835	+	synonymous_variant	Silent	SNP	G	G	A	rs149918258		TCGA-06-2564-01	TCGA-06-2564-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000425538.1:c.2835G>A	p.Pro945=	p.P945=	ENST00000425538	NM_001146312.1	945	ccG/ccA	0	A:0.0002		1			A	P	uc002gnn.2	protein_coding		CCDS11163.1			2691/2817									central_nervous_system(2)|skin(2)|ovary(1)	5	c.(2689-2691)CCG>CCA			hmmpanther:PTHR22793,hmmpanther:PTHR22793:SF11	myocardin isoform 2			A:0	ENSP00000341835		13/13	5.77E-05	0.000192	8.65E-05			6.00E-05			rs149918258,COSM1258593,COSM1258592	13/13	.		ENST00000343344	Transcript			cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	ENSG00000141052	g.chr17:12666835G>A	16067			LOW								--	--	1																																		MYOCD_uc002gno.2_Silent_p.P945P|MYOCD_uc002gnq.2_Silent_p.P621P	0,1,1				p.P897P	NM_153604	NP_705832			0,1,1	MYCD_HUMAN	MYOCD	HGNC	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)			13	2990	+			UPI0000062264	897					SNV	MYOCD,synonymous_variant,p.=,ENST00000425538,NM_001146312.1,NM_153604.2;MYOCD,synonymous_variant,p.=,ENST00000443061,;MYOCD,synonymous_variant,p.=,ENST00000343344,;RP11-1090M7.1,non_coding_transcript_exon_variant,,ENST00000584772,;	uc002gnn.2	c.2691G>A	2691/2817	2	2			c.2691G>A						17	SNP	c.(2689-2691)CCG>CCA	35	35			central_nervous_system(2)|skin(2)|ovary(1)	5	Broad	myocardin isoform 2			12666835		0.512	ENSG00000141052	9905	g.chr17:12666835G>A	cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding							107.741632	KEEP	18	23	-1	14	26	18	23	-1	107.813963	14	26	0.533333	1	0	0	0	0	0	0	1	0	--	--		0	A			MYOCD_uc002gno.2_Silent_p.P945P|MYOCD_uc002gnq.2_Silent_p.P621P	87	GBM-06-2564-TP	p.P897P	G	ACCTCACTCCGCCAAATTCCA	NM_153604	NP_705832	12666835	Q8IZQ8	MYCD_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	13	2990	+	A	A			Silent	897						
MYOCD	0	broad.mit.edu	GRCh37	17	12655804	12655804	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343344.4:c.1199G>A	p.Arg400Gln	p.R400Q	ENST00000343344		400	cGg/cAg	0			1			A	R/Q	uc002gnn.2	protein_coding		CCDS11163.1			1199/2817									central_nervous_system(2)|skin(2)|ovary(1)	5	c.(1198-1200)CGG>CAG			Gene3D:1.10.720.30,Pfam_domain:PF02037,PROSITE_profiles:PS50800,hmmpanther:PTHR22793,hmmpanther:PTHR22793:SF11,SMART_domains:SM00513,Superfamily_domains:SSF68906	myocardin isoform 2				ENSP00000341835		13-Oct									COSM3402609,COSM3402610,COSM3402608	13-Oct	.		ENST00000343344	Transcript			cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	ENSG00000141052	g.chr17:12655804G>A	16067			MODERATE		3.115	medium	getma.org/?cm=msa&ty=f&p=MYCD_HUMAN&rb=371&re=405&var=R400Q	getma.org/pdb.php?prot=MYCD_HUMAN&from=371&to=405&var=R400Q	getma.org/?cm=var&var=hg19,17,12655804,G,A&fts=all	R400Q	--	--	1																																		MYOCD_uc002gno.2_Missense_Mutation_p.R400Q|MYOCD_uc002gnp.1_Missense_Mutation_p.R304Q|MYOCD_uc002gnq.2_Missense_Mutation_p.R119Q	1,1,1			probably_damaging(1)	p.R400Q	NM_153604	NP_705832		deleterious(0)	1,1,1	MYCD_HUMAN	MYOCD	HGNC	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)			10	1498	+			UPI0000062264	400			SAP.		SNV	MYOCD,missense_variant,p.Arg400Gln,ENST00000425538,NM_001146312.1,NM_153604.2;MYOCD,missense_variant,p.Arg105Gln,ENST00000443061,;MYOCD,missense_variant,p.Arg400Gln,ENST00000343344,;AC005358.1,missense_variant,p.Arg304Gln,ENST00000609971,NM_001146313.1;MYOCD,non_coding_transcript_exon_variant,,ENST00000395988,;	uc002gnn.2	c.1199G>A	1199/2817	2	2			c.1199G>A						17	SNP	c.(1198-1200)CGG>CAG	48	48			central_nervous_system(2)|skin(2)|ovary(1)	5	Broad	myocardin isoform 2			12655804		0.507	ENSG00000141052	9905	g.chr17:12655804G>A	cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding							-3.217738	KEEP	1	2	-1	29	27	1	2	-1	7.178099	29	27	0.058824	1	0	0	0	0	1	0	0	0	--	--		0	A			MYOCD_uc002gno.2_Missense_Mutation_p.R400Q|MYOCD_uc002gnp.1_Missense_Mutation_p.R304Q|MYOCD_uc002gnq.2_Missense_Mutation_p.R119Q	120	GBM-12-0619-TP	p.R400Q	G	CTCATGGACCGGCTTCGACCC	NM_153604	NP_705832	12655804	Q8IZQ8	MYCD_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	10	1498	+	A	A			Missense_Mutation	400			SAP.			
MYOCD	0	broad.mit.edu	GRCh37	17	12626268	12626268	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343344.4:c.358G>A	p.Glu120Lys	p.E120K	ENST00000343344		120	Gag/Aag	0			1			A	E/K	uc002gnn.2	protein_coding		CCDS11163.1			358/2817									central_nervous_system(2)|skin(2)|ovary(1)	5	c.(358-360)GAG>AAG			Pfam_domain:PF02755,PROSITE_profiles:PS51073,hmmpanther:PTHR22793,hmmpanther:PTHR22793:SF11,SMART_domains:SM00707	myocardin isoform 2				ENSP00000341835		13-May									COSM3402605,COSM3402606,COSM3402604	13-May	.		ENST00000343344	Transcript			cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	ENSG00000141052	g.chr17:12626268G>A	16067			MODERATE		1.975	medium	getma.org/?cm=msa&ty=f&p=MYCD_HUMAN&rb=86&re=151&var=E120K	getma.org/pdb.php?prot=MYCD_HUMAN&from=106&to=131&var=E120K	getma.org/?cm=var&var=hg19,17,12626268,G,A&fts=all	E120K	--	--	1																																		MYOCD_uc002gno.2_Missense_Mutation_p.E120K|MYOCD_uc002gnp.1_Missense_Mutation_p.E24K	1,1,1			probably_damaging(0.994)	p.E120K	NM_153604	NP_705832		deleterious(0.01)	1,1,1	MYCD_HUMAN	MYOCD	HGNC	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)			5	657	+			UPI0000062264	120			RPEL 3.		SNV	MYOCD,missense_variant,p.Glu120Lys,ENST00000425538,NM_001146312.1,NM_153604.2;MYOCD,missense_variant,p.Glu120Lys,ENST00000343344,;AC005358.1,missense_variant,p.Glu24Lys,ENST00000609971,NM_001146313.1;MYOCD,non_coding_transcript_exon_variant,,ENST00000395988,;	uc002gnn.2	c.358G>A	358/2817	1	1			c.358G>A						17	SNP	c.(358-360)GAG>AAG	49	49			central_nervous_system(2)|skin(2)|ovary(1)	5	Broad	myocardin isoform 2			12626268		0.468	ENSG00000141052	9905	g.chr17:12626268G>A	cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding							-42.510282	KEEP	3	3	-1	114	105	3	3	-1	7.852118	114	105	0.024876	1	0	0	0	0	1	0	0	0	--	--		0	A			MYOCD_uc002gno.2_Missense_Mutation_p.E120K|MYOCD_uc002gnp.1_Missense_Mutation_p.E24K	240	GBM-32-2632-TP	p.E120K	G	AGGGCCACTGGAGCTGGTGGA	NM_153604	NP_705832	12626268	Q8IZQ8	MYCD_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	5	657	+	A	A			Missense_Mutation	120			RPEL 3.			
MYOD1	4654	broad.mit.edu	GRCh37	11	17741852	17741852	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs143600911		TCGA-06-0166-01	TCGA-06-0166-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000250003.3:c.523G>T	p.Ala175Ser	p.A175S	ENST00000250003	NM_002478.4	175	Gca/Tca	0	T:0.0002		1			T	A/S	uc001mni.2	protein_coding	YES	CCDS7826.1			523/963									breast(2)|ovary(1)	3	c.(523-525)GCA>TCA			Low_complexity_(Seg):seg,hmmpanther:PTHR11534,hmmpanther:PTHR11534:SF2	myogenic differentiation 1			T:0	ENSP00000250003		3-Jan	1.67E-05	0.000139						6.92E-05	rs143600911,COSM2150164	3-Jan	.		ENST00000250003	Transcript			muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity	ENSG00000129152	g.chr11:17741852G>T	7611			MODERATE		0.255	neutral	getma.org/?cm=msa&ty=f&p=MYOD1_HUMAN&rb=132&re=219&var=A175S	getma.org/pdb.php?prot=MYOD1_HUMAN&from=162&to=189&var=A175S	getma.org/?cm=var&var=hg19,11,17741852,G,T&fts=all	A175S	--	--	1																																			0,1	1		benign(0.008)	p.A175S	NM_002478	NP_002469		tolerated(0.71)	0,1	MYOD1_HUMAN	MYOD1	HGNC	P15172	MYOD1_HUMAN					1	743	+			UPI000007280C	175					SNV	MYOD1,missense_variant,p.Ala175Ser,ENST00000250003,NM_002478.4;	uc001mni.2	c.523G>T	738/1801	2	2			c.523G>T						11	SNP	c.(523-525)GCA>TCA	21	21			breast(2)|ovary(1)	3	Broad	myogenic differentiation 1			17741852		0.577	ENSG00000129152	9906	g.chr11:17741852G>T	muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity							47.023669	KEEP	4	12	0.25	7	8	4	12	0.25	47.15714	7	8	0.576923	1	0	0	0	0	1	0	0	0	--	--		0	T				31	GBM-06-0166-TP	p.A175S	G	CCCTGGCGCCGCAGCCGCCTT	NM_002478	NP_002469	17741852	P15172	MYOD1_HUMAN	0			1	743	+	T	T			Missense_Mutation	175						
MYOF	26509		GRCh37	10	95134679	95134679	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000359263.4:c.2142C>T	p.Asn714=	p.N714=	ENST00000359263	NM_013451.3	714	aaC/aaT	0																																																																																																																																																																																																																																												
MYOF	26509		GRCh37	10	95119651	95119651	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000359263.4:c.3059G>A	p.Arg1020Gln	p.R1020Q	ENST00000359263	NM_013451.3	1020	cGg/cAg	0																																																																																																																																																																																																																																												
MYOM1	8736	broad.mit.edu	GRCh37	18	3067533	3067533	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0173-01	TCGA-06-0173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356443.4:c.4785C>T	p.Asn1595=	p.N1595=	ENST00000356443	NM_019856.1	1595	aaC/aaT	0			1			A	N	uc002klp.2	protein_coding	YES	CCDS45824.1			4785/5058									ovary(3)|central_nervous_system(1)|pancreas(1)	5	c.(4783-4785)AAC>AAT			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF36,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	myomesin 1 isoform a				ENSP00000348821		38/38	8.26E-06					1.51E-05			rs777424606,COSM2150387	38/38	.		ENST00000356443	Transcript				striated muscle myosin thick filament	structural constituent of muscle	ENSG00000101605	g.chr18:3067533G>A	7613			LOW								--	--	1																																		MYOM1_uc002klq.2_Silent_p.N1499N	0,1	1			p.N1595N	NM_003803	NP_003794			0,1	MYOM1_HUMAN	MYOM1	HGNC	P52179	MYOM1_HUMAN					38	5119	-			UPI000022A657	1595			Ig-like C2-type 5.		SNV	MYOM1,synonymous_variant,p.=,ENST00000400569,;MYOM1,synonymous_variant,p.=,ENST00000356443,NM_019856.1,NM_003803.3;MYOM1,synonymous_variant,p.=,ENST00000261606,;MYOM1,non_coding_transcript_exon_variant,,ENST00000581804,;	uc002klp.2	c.4785C>T	5119/5847	2	2			c.4785C>T						18	SNP	c.(4783-4785)AAC>AAT	35	35			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Broad	myomesin 1 isoform a			3067533		0.537	ENSG00000101605	9909	g.chr18:3067533G>A		striated muscle myosin thick filament	structural constituent of muscle							62.335766	KEEP	13	11	-1	23	19	13	11	-1	63.272842	23	19	0.366667	1	0	0	0	0	0	0	1	0	--	--		0	A			MYOM1_uc002klq.2_Silent_p.N1499N	36	GBM-06-0173-TP	p.N1595N	G	CTCCCCACACGTTGCAAGTGA	NM_003803	NP_003794	3067533	P52179	MYOM1_HUMAN	0			38	5119	-	A	A			Silent	1595			Ig-like C2-type 5.			
MYOM1	8736	broad.mit.edu	GRCh37	18	3134669	3134669	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0644-01	TCGA-06-0644-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356443.4:c.2363A>G	p.Asn788Ser	p.N788S	ENST00000356443	NM_019856.1	788	aAc/aGc	0			1			C	N/S	uc002klp.2	protein_coding	YES	CCDS45824.1			2363/5058									ovary(3)|central_nervous_system(1)|pancreas(1)	5	c.(2362-2364)AAC>AGC			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF36,SMART_domains:SM00060,Superfamily_domains:SSF49265	myomesin 1 isoform a				ENSP00000348821		16/38									COSM2151212	16/38	.		ENST00000356443	Transcript				striated muscle myosin thick filament	structural constituent of muscle	ENSG00000101605	g.chr18:3134669T>C	7613			MODERATE		1.215	low	getma.org/?cm=msa&ty=f&p=MYOM1_HUMAN&rb=740&re=823&var=N788S	getma.org/pdb.php?prot=MYOM1_HUMAN&from=740&to=823&var=N788S	getma.org/?cm=var&var=hg19,18,3134669,T,C&fts=all	N788S	--	--	1																																		MYOM1_uc002klq.2_Missense_Mutation_p.N788S	1	1		possibly_damaging(0.764)	p.N788S	NM_003803	NP_003794		tolerated(0.06)	1	MYOM1_HUMAN	MYOM1	HGNC	P52179	MYOM1_HUMAN					16	2697	-			UPI000022A657	788			Fibronectin type-III 3.		SNV	MYOM1,missense_variant,p.Asn788Ser,ENST00000400569,;MYOM1,missense_variant,p.Asn788Ser,ENST00000356443,NM_019856.1,NM_003803.3;MYOM1,missense_variant,p.Asn788Ser,ENST00000261606,;MYOM1,downstream_gene_variant,,ENST00000577294,;	uc002klp.2	c.2363A>G	2697/5847	3	3			c.2363A>G						18	SNP	c.(2362-2364)AAC>AGC	1	1			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Broad	myomesin 1 isoform a			3134669		0.577	ENSG00000101605	9909	g.chr18:3134669T>C		striated muscle myosin thick filament	structural constituent of muscle							28.962508	KEEP	5	7	-1	24	16	5	7	-1	32.244404	24	16	0.235294	1	0	0	0	0	1	0	0	0	--	--		0	C			MYOM1_uc002klq.2_Missense_Mutation_p.N788S	58	GBM-06-0644-TP	p.N788S	T	CACGGGGTTGTTGTTACAGGG	NM_003803	NP_003794	3134669	P52179	MYOM1_HUMAN	0			16	2697	-	C	C			Missense_Mutation	788			Fibronectin type-III 3.			
MYOM1	0	broad.mit.edu	GRCh37	18	3188890	3188890	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-1980-01	TCGA-32-1980-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356443.4:c.627G>A	p.Thr209=	p.T209=	ENST00000356443	NM_019856.1	209	acG/acA	0			1			T	T	uc002klp.2	protein_coding	YES	CCDS45824.1			627/5058									ovary(3)|central_nervous_system(1)|pancreas(1)	5	c.(625-627)ACG>ACA			Low_complexity_(Seg):seg	myomesin 1 isoform a				ENSP00000348821		Apr-38									COSM988011	Apr-38	.		ENST00000356443	Transcript				striated muscle myosin thick filament	structural constituent of muscle	ENSG00000101605	g.chr18:3188890C>T	7613			LOW								--	--	1																																		MYOM1_uc002klq.2_Silent_p.T209T	1	1			p.T209T	NM_003803	NP_003794			1	MYOM1_HUMAN	MYOM1	HGNC	P52179	MYOM1_HUMAN					4	961	-			UPI000022A657	209			5.|6 X 6 AA tandem repeats.		SNV	MYOM1,synonymous_variant,p.=,ENST00000400569,;MYOM1,synonymous_variant,p.=,ENST00000356443,NM_019856.1,NM_003803.3;MYOM1,synonymous_variant,p.=,ENST00000261606,;RP13-270P17.2,upstream_gene_variant,,ENST00000580139,;	uc002klp.2	c.627G>A	961/5847	1	1			c.627G>A						18	SNP	c.(625-627)ACG>ACA	10	10			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Broad	myomesin 1 isoform a			3188890		0.522	ENSG00000101605	9909	g.chr18:3188890C>T		striated muscle myosin thick filament	structural constituent of muscle							-14.092852	KEEP	1	3	-1	35	67	1	3	-1	6.396831	35	67	0.043956	1	0	0	0	0	0	0	1	0	--	--		0	T			MYOM1_uc002klq.2_Silent_p.T209T	231	GBM-32-1980-TP	p.T209T	C	GCCTGGATGCCGTGGACTGCT	NM_003803	NP_003794	3188890	P52179	MYOM1_HUMAN	0			4	961	-	T	T			Silent	209			5.|6 X 6 AA tandem repeats.			
MYOM1	0	broad.mit.edu	GRCh37	18	3126851	3126851	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01	TCGA-32-4210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356443.4:c.2839C>T	p.Arg947Cys	p.R947C	ENST00000356443	NM_019856.1	947	Cgt/Tgt	0			1			A	R/C	uc002klp.2	protein_coding	YES	CCDS45824.1			2839/5058									ovary(3)|central_nervous_system(1)|pancreas(1)	5	c.(2839-2841)CGT>TGT			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF36,SMART_domains:SM00060,Superfamily_domains:SSF49265	myomesin 1 isoform a				ENSP00000348821		19/38	8.27E-06					1.78E-05			rs762430543,COSM262276	19/38	.		ENST00000356443	Transcript				striated muscle myosin thick filament	structural constituent of muscle	ENSG00000101605	g.chr18:3126851G>A	7613			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=MYOM1_HUMAN&rb=935&re=1023&var=R947C	getma.org/pdb.php?prot=MYOM1_HUMAN&from=935&to=1023&var=R947C	getma.org/?cm=var&var=hg19,18,3126851,G,A&fts=all	R947C	--	--	1																																		MYOM1_uc002klq.2_Missense_Mutation_p.R851C	0,1	1		probably_damaging(0.967)	p.R947C	NM_003803	NP_003794		deleterious(0.01)	0,1	MYOM1_HUMAN	MYOM1	HGNC	P52179	MYOM1_HUMAN					19	3173	-			UPI000022A657	947			Fibronectin type-III 4.		SNV	MYOM1,missense_variant,p.Arg947Cys,ENST00000356443,NM_019856.1,NM_003803.3;MYOM1,missense_variant,p.Arg947Cys,ENST00000400569,;MYOM1,missense_variant,p.Arg851Cys,ENST00000261606,;MYOM1,non_coding_transcript_exon_variant,,ENST00000582016,;	uc002klp.2	c.2839C>T	3173/5847	2	2			c.2839C>T						18	SNP	c.(2839-2841)CGT>TGT	17	17			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Broad	myomesin 1 isoform a			3126851		0.423	ENSG00000101605	9909	g.chr18:3126851G>A		striated muscle myosin thick filament	structural constituent of muscle							20.085993	KEEP	4	4	-1	11	15	4	4	-1	21.561736	11	15	0.266667	1	0	0	0	0	1	0	0	0	--	--		0	A			MYOM1_uc002klq.2_Missense_Mutation_p.R851C	245	GBM-32-4210-TP	p.R947C	G	ATTGAGTCACGAAAACTTTCA	NM_003803	NP_003794	3126851	P52179	MYOM1_HUMAN	0			19	3173	-	A	A			Missense_Mutation	947			Fibronectin type-III 4.			
MYOM2	9172	broad.mit.edu	GRCh37	8	2092880	2092880	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0745-01	TCGA-06-0745-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262113.4:c.4373C>T	p.Ala1458Val	p.A1458V	ENST00000262113	NM_003970.2	1458	gCg/gTg	0		T:0	1	T:0		T	A/V	uc003wpx.3	protein_coding	YES	CCDS5957.1			4373/4398									ovary(4)|central_nervous_system(1)|skin(1)	6	c.(4372-4374)GCG>GTG				myomesin 2		T:0.001		ENSP00000262113	T:0	37/37	9.06E-05			0.000694		3.02E-05	0.00111	0.000121	rs562106463,COSM1456001	37/37	common_variant		ENST00000262113	Transcript		T:0.0002	muscle contraction	myosin filament	structural constituent of muscle	ENSG00000036448	g.chr8:2092880C>T	7614			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=MYOM2_HUMAN&rb=1436&re=1465&var=A1458V	NA	getma.org/?cm=var&var=hg19,8,2092880,C,T&fts=all	A1458V	--	--	1																																		MYOM2_uc011kwi.1_Missense_Mutation_p.A883V	0,1	1		benign(0.243)	p.A1458V	NM_003970	NP_003961	T:0	deleterious_low_confidence(0.02)	0,1	MYOM2_HUMAN	MYOM2	HGNC	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	E7EWH9_HUMAN		37	4511	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	UPI000013D260	1458					SNV	MYOM2,missense_variant,p.Ala1458Val,ENST00000262113,NM_003970.2;MYOM2,missense_variant,p.Ala883Val,ENST00000523438,;MYOM2,non_coding_transcript_exon_variant,,ENST00000520298,;MYOM2,intron_variant,,ENST00000520779,;MYOM2,downstream_gene_variant,,ENST00000520072,;MYOM2,downstream_gene_variant,,ENST00000523595,;MYOM2,downstream_gene_variant,,ENST00000519631,;MYOM2,downstream_gene_variant,,ENST00000519268,;MYOM2,downstream_gene_variant,,ENST00000518513,;	uc003wpx.3	c.4373C>T	4514/5014	1	1			c.4373C>T						8	SNP	c.(4372-4374)GCG>GTG	1	1			ovary(4)|central_nervous_system(1)|skin(1)	6	Broad	myomesin 2			2092880		0.587	ENSG00000036448	9910	g.chr8:2092880C>T	muscle contraction	myosin filament	structural constituent of muscle							30.763444	KEEP	3	12	-1	37	35	3	12	-1	34.806787	37	35	0.224138	1	0	0	0	0	1	0	0	0	--	--		0	T			MYOM2_uc011kwi.1_Missense_Mutation_p.A883V	67	GBM-06-0745-TP	p.A1458V	C	CTCATCCCCGCGTCTGCCTCA	NM_003970	NP_003961	2092880	P54296	MYOM2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	37	4511	+	T	T		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	Missense_Mutation	1458						
MYOM2	9172	broad.mit.edu	GRCh37	8	2040299	2040299	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0881-01	TCGA-06-0881-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262113.4:c.1954G>A	p.Gly652Arg	p.G652R	ENST00000262113	NM_003970.2	652	Gga/Aga	0			1			A	G/R	uc003wpx.3	protein_coding	YES	CCDS5957.1			1954/4398									ovary(4)|central_nervous_system(1)|skin(1)	6	c.(1954-1956)GGA>AGA			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF48,SMART_domains:SM00060,Superfamily_domains:SSF49265	myomesin 2				ENSP00000262113		16/37	2.47E-05	0.000192		0.000116					rs767972373,COSM3412908	16/37	.		ENST00000262113	Transcript			muscle contraction	myosin filament	structural constituent of muscle	ENSG00000036448	g.chr8:2040299G>A	7614			MODERATE		2.945	medium	getma.org/?cm=msa&ty=f&p=MYOM2_HUMAN&rb=613&re=696&var=G652R	getma.org/pdb.php?prot=MYOM2_HUMAN&from=613&to=696&var=G652R	getma.org/?cm=var&var=hg19,8,2040299,G,A&fts=all	G652R	--	--	1																																		MYOM2_uc011kwi.1_Missense_Mutation_p.G77R	0,1	1		probably_damaging(0.99)	p.G652R	NM_003970	NP_003961		deleterious(0)	0,1	MYOM2_HUMAN	MYOM2	HGNC	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	E7EWH9_HUMAN		16	2092	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	UPI000013D260	652			Fibronectin type-III 3.		SNV	MYOM2,missense_variant,p.Gly652Arg,ENST00000262113,NM_003970.2;MYOM2,missense_variant,p.Gly77Arg,ENST00000523438,;MYOM2,non_coding_transcript_exon_variant,,ENST00000518803,;MYOM2,downstream_gene_variant,,ENST00000519518,;	uc003wpx.3	c.1954G>A	2095/5014	2	2			c.1954G>A						8	SNP	c.(1954-1956)GGA>AGA	24	24			ovary(4)|central_nervous_system(1)|skin(1)	6	Broad	myomesin 2			2040299		0.607	ENSG00000036448	9910	g.chr8:2040299G>A	muscle contraction	myosin filament	structural constituent of muscle							-11.941791	KEEP	3	6	-1	88	75	3	6	-1	20.060438	88	75	0.057692	1	0	0	0	0	1	0	0	0	--	--		0	A			MYOM2_uc011kwi.1_Missense_Mutation_p.G77R	76	GBM-06-0881-TP	p.G652R	G	CTGTGTGGCCGGAACCAACCT	NM_003970	NP_003961	2040299	P54296	MYOM2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	16	2092	+	A	A		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	Missense_Mutation	652			Fibronectin type-III 3.			
MYOM2	0	broad.mit.edu	GRCh37	8	2005570	2005570	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs147661043		TCGA-26-5139-01	TCGA-26-5139-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262113.4:c.368G>A	p.Arg123His	p.R123H	ENST00000262113	NM_003970.2	123	cGc/cAc	0			1			A	R/H	uc003wpx.3	protein_coding	YES	CCDS5957.1			368/4398									ovary(4)|central_nervous_system(1)|skin(1)	6	c.(367-369)CGC>CAC			hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF48	myomesin 2				ENSP00000262113		Apr-37									COSM268503	Apr-37	.		ENST00000262113	Transcript			muscle contraction	myosin filament	structural constituent of muscle	ENSG00000036448	g.chr8:2005570G>A	7614			MODERATE		1.955	medium	getma.org/?cm=msa&ty=f&p=MYOM2_HUMAN&rb=1&re=153&var=R123H	NA	getma.org/?cm=var&var=hg19,8,2005570,G,A&fts=all	R123H	--	--	1																																		MYOM2_uc011kwi.1_Intron	1	1		possibly_damaging(0.755)	p.R123H	NM_003970	NP_003961		deleterious(0.03)	1	MYOM2_HUMAN	MYOM2	HGNC	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	E7EWH9_HUMAN		4	506	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	UPI000013D260	123					SNV	MYOM2,missense_variant,p.Arg123His,ENST00000262113,NM_003970.2;MYOM2,intron_variant,,ENST00000523438,;	uc003wpx.3	c.368G>A	509/5014	2	2			c.368G>A						8	SNP	c.(367-369)CGC>CAC	45	45			ovary(4)|central_nervous_system(1)|skin(1)	6	Broad	myomesin 2			2005570		0.617	ENSG00000036448	9910	g.chr8:2005570G>A	muscle contraction	myosin filament	structural constituent of muscle							29.959654	KEEP	8	5	-1	10	13	8	5	-1	30.374581	10	13	0.382353	1	0	0	0	0	1	0	0	0	--	--		0	A			MYOM2_uc011kwi.1_Intron	186	GBM-26-5139-TP	p.R123H	G	TCCCAGGCCCGCGACAAGCTG	NM_003970	NP_003961	2005570	P54296	MYOM2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	4	506	+	A	A		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	Missense_Mutation	123						
MYOZ2	0	broad.mit.edu	GRCh37	4	120072132	120072132	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307128.5:c.182G>A	p.Arg61His	p.R61H	ENST00000307128	NM_016599.4	61	cGt/cAt	0			1			A	R/H	uc003icp.3	protein_coding	YES	CCDS3711.1			182/795										0	c.(181-183)CGT>CAT			hmmpanther:PTHR15941,hmmpanther:PTHR15941:SF9,Pfam_domain:PF05556	myozenin 2				ENSP00000306997		6-Mar	1.65E-05	0.000192							rs748259386,COSM3409028	6-Mar	.		ENST00000307128	Transcript	1				protein phosphatase 2B binding	ENSG00000172399	g.chr4:120072132G>A	1330			MODERATE		2.8	medium	getma.org/?cm=msa&ty=f&p=MYOZ2_HUMAN&rb=1&re=264&var=R61H	NA	getma.org/?cm=var&var=hg19,4,120072132,G,A&fts=all	R61H	--	--	1																																			0,1	1		probably_damaging(1)	p.R61H	NM_016599	NP_057683		deleterious(0)	0,1	MYOZ2_HUMAN	MYOZ2	HGNC	Q9NPC6	MYOZ2_HUMAN					3	395	+			UPI000004665D	61					SNV	MYOZ2,missense_variant,p.Arg61His,ENST00000307128,NM_016599.4;	uc003icp.3	c.182G>A	395/2597	2	2			c.182G>A						4	SNP	c.(181-183)CGT>CAT	43	43				0	Broad	myozenin 2			120072132		0.398	ENSG00000172399	9914	g.chr4:120072132G>A			protein phosphatase 2B binding							117.606802	KEEP	25	21	-1	48	45	25	21	-1	120.583437	48	45	0.336	1	0	0	0	0	1	0	0	0	--	--		0	A				197	GBM-27-1838-TP	p.R61H	G	TTTAAGATGCGTCAAAGAAGA	NM_016599	NP_057683	120072132	Q9NPC6	MYOZ2_HUMAN	0			3	395	+	A	A			Missense_Mutation	61						
MYOZ3	91977	broad.mit.edu	GRCh37	5	150050115	150050115	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0129-01	TCGA-06-0129-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297130.4:c.131G>A	p.Arg44His	p.R44H	ENST00000297130	NM_133371.4	44	cGc/cAc	0			1			A	R/H	uc003lss.2	protein_coding	YES	CCDS4309.1			131/756									skin(1)	1	c.(130-132)CGC>CAC			hmmpanther:PTHR15941:SF10,hmmpanther:PTHR15941,Pfam_domain:PF05556	myozenin 3				ENSP00000297130		7-Mar									COSM2149519	7-Mar	.		ENST00000297130	Transcript				sarcomere	protein binding	ENSG00000164591	g.chr5:150050115G>A	18565			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=MYOZ3_HUMAN&rb=1&re=251&var=R44H	NA	getma.org/?cm=var&var=hg19,5,150050115,G,A&fts=all	R44H	--	--	1																																		MYOZ3_uc003lsr.2_Missense_Mutation_p.R44H	1	1		possibly_damaging(0.832)	p.R44H	NM_001122853	NP_001116325		tolerated(0.09)	1	MYOZ3_HUMAN	MYOZ3	HGNC	Q8TDC0	MYOZ3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		H0YC50_HUMAN		3	718	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	UPI000013E3C8	44					SNV	MYOZ3,missense_variant,p.Arg44His,ENST00000297130,NM_133371.4,NM_001122853.2;MYOZ3,missense_variant,p.Arg44His,ENST00000517768,;MYOZ3,upstream_gene_variant,,ENST00000520112,;MYOZ3,upstream_gene_variant,,ENST00000523553,;CTC-345K18.2,downstream_gene_variant,,ENST00000511626,;MYOZ3,upstream_gene_variant,,ENST00000456566,;MYOZ3,non_coding_transcript_exon_variant,,ENST00000517861,;MYOZ3,upstream_gene_variant,,ENST00000521300,;MYOZ3,upstream_gene_variant,,ENST00000524256,;	uc003lss.2	c.131G>A	330/3445	1	1			c.131G>A						5	SNP	c.(130-132)CGC>CAC	54	54			skin(1)	1	Broad	myozenin 3			150050115		0.607	ENSG00000164591	9915	g.chr5:150050115G>A		sarcomere	protein binding							21.184715	KEEP	3	7	-1	13	13	3	7	-1	23.002534	13	13	0.25	1	0	0	0	0	1	0	0	0	--	--		0	A			MYOZ3_uc003lsr.2_Missense_Mutation_p.R44H	15	GBM-06-0129-TP	p.R44H	G	CTGTCACTACGCAACAACAGA	NM_001122853	NP_001116325	150050115	Q8TDC0	MYOZ3_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	718	+	A	A		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	Missense_Mutation	44						
MYRF	0	broad.mit.edu	GRCh37	11	61541579	61541579	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-4926-01	TCGA-76-4926-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278836.5:c.1256C>G	p.Thr419Arg	p.T419R	ENST00000278836	NM_001127392.1	419	aCg/aGg	0			1			G	T/R	uc001nsc.1	protein_coding	YES	CCDS44622.1			1256/3456									breast(1)	1	c.(1255-1257)ACG>AGG			Superfamily_domains:SSF49417,Pfam_domain:PF05224,hmmpanther:PTHR13029,hmmpanther:PTHR13029:SF16,PROSITE_profiles:PS51517	myelin gene regulatory factor isoform 2				ENSP00000278836		27-Aug									COSM3397973,COSM3397972,COSM3397974	27-Aug	.		ENST00000278836	Transcript			central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000124920	g.chr11:61541579C>G	1181			MODERATE		2.86	medium	getma.org/?cm=msa&ty=f&p=MRF_HUMAN&rb=393&re=540&var=T419R	NA	getma.org/?cm=var&var=hg19,11,61541579,C,G&fts=all	T419R	--	--	1																																		C11orf9_uc001nse.1_Missense_Mutation_p.T410R	1,1,1	1		probably_damaging(1)	p.T419R	NM_001127392	NP_001120864		deleterious(0)	1,1,1	MRF_HUMAN	MYRF	HGNC	Q9Y2G1	MRF_HUMAN					8	1352	+			UPI0000D45F7B	419			NDT80.		SNV	MYRF,missense_variant,p.Thr419Arg,ENST00000278836,NM_001127392.1;MYRF,missense_variant,p.Thr410Arg,ENST00000265460,NM_013279.2;MYRF,missense_variant,p.Thr46Arg,ENST00000327797,;MYRF,upstream_gene_variant,,ENST00000389602,;TMEM258,non_coding_transcript_exon_variant,,ENST00000535042,;MYRF,upstream_gene_variant,,ENST00000537318,;MYRF,upstream_gene_variant,,ENST00000536352,;	uc001nsc.1	c.1256C>G	1352/5927	4	4			c.1256C>G						11	SNP	c.(1255-1257)ACG>AGG	17	17			breast(1)	1	Broad	myelin gene regulatory factor isoform 2			61541579		0.587	ENSG00000124920	1634	g.chr11:61541579C>G	central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity							50.497156	KEEP	10	9	-1	18	16	10	9	-1	51.213143	18	16	0.363636	1	0	0	0	0	1	0	0	0	--	--		0	G			C11orf9_uc001nse.1_Missense_Mutation_p.T410R	266	GBM-76-4926-TP	p.T419R	C	TACGTCAAGACGCCCGAGGGC	NM_001127392	NP_001120864	61541579	Q9Y2G1	MRF_HUMAN	0			8	1352	+	G	G			Missense_Mutation	419			NDT80.			
MYRIP	0	broad.mit.edu	GRCh37	3	40231528	40231528	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2494-01	TCGA-32-2494-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302541.6:c.1239G>A	p.Arg413=	p.R413=	ENST00000302541	NM_015460.2	413	agG/agA	0			1			A	R	uc003cka.2	protein_coding	YES	CCDS2689.1			1239/2580									ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	c.(1237-1239)AGG>AGA			hmmpanther:PTHR14555:SF6,hmmpanther:PTHR14555,Pfam_domain:PF04698	myosin VIIA and Rab interacting protein				ENSP00000301972		17-Oct									COSM3408658	17-Oct	.		ENST00000302541	Transcript			intracellular protein transport		actin binding|zinc ion binding	ENSG00000170011	g.chr3:40231528G>A	19156			LOW								--	--	1																																		MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Silent_p.R413R|MYRIP_uc010hhw.2_Silent_p.R324R|MYRIP_uc011ayz.1_Silent_p.R226R|uc003ckb.2_Intron	1	1			p.R413R	NM_015460	NP_056275			1	MYRIP_HUMAN	MYRIP	HGNC	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)			10	1374	+			UPI0000074787	413			Myosin-binding.		SNV	MYRIP,synonymous_variant,p.=,ENST00000302541,NM_015460.2,NM_001284423.1;MYRIP,synonymous_variant,p.=,ENST00000396217,NM_001284425.1;MYRIP,synonymous_variant,p.=,ENST00000425621,NM_001284424.1;MYRIP,synonymous_variant,p.=,ENST00000444716,;MYRIP,synonymous_variant,p.=,ENST00000539167,NM_001284426.1;MYRIP,non_coding_transcript_exon_variant,,ENST00000459828,;MYRIP,synonymous_variant,p.=,ENST00000458292,;MYRIP,3_prime_UTR_variant,,ENST00000458441,;	uc003cka.2	c.1239G>A	1581/5077	1	1			c.1239G>A						3	SNP	c.(1237-1239)AGG>AGA	50	50			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Broad	myosin VIIA and Rab interacting protein			40231528		0.637	ENSG00000170011	9918	g.chr3:40231528G>A	intracellular protein transport		actin binding|zinc ion binding							117.192511	KEEP	28	26	-1	57	65	28	26	-1	122.281398	57	65	0.304636	1	0	0	0	0	0	0	1	0	--	--		0	A			MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Silent_p.R413R|MYRIP_uc010hhw.2_Silent_p.R324R|MYRIP_uc011ayz.1_Silent_p.R226R|uc003ckb.2_Intron	236	GBM-32-2494-TP	p.R413R	G	TGTGTCCCAGGTCCCGGGCCC	NM_015460	NP_056275	40231528	Q8NFW9	MYRIP_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	10	1374	+	A	A			Silent	413			Myosin-binding.			
MYSM1	114803	broad.mit.edu	GRCh37	1	59132729	59132729	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-2557-01	TCGA-06-2557-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000472487.1:c.2012A>G	p.Asp671Gly	p.D671G	ENST00000472487	NM_001085487.2	671	gAc/gGc	0			1			C	D/G	uc009wab.1	protein_coding	YES	CCDS41343.1			2012/2487									skin(1)	1	c.(2011-2013)GAC>GGC			hmmpanther:PTHR12802,hmmpanther:PTHR12802:SF3,Pfam_domain:PF01398,Gene3D:3.40.140.10,SMART_domains:SM00232,Superfamily_domains:0048572	Myb-like, SWIRM and MPN domains 1				ENSP00000418734		16/20									COSM2152525	16/20	.		ENST00000472487	Transcript			histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	ENSG00000162601	g.chr1:59132729T>C	29401			MODERATE		1.185	low	getma.org/?cm=msa&ty=f&p=MYSM1_HUMAN&rb=572&re=682&var=D671G	NA	getma.org/?cm=var&var=hg19,1,59132729,T,C&fts=all	D671G	--	--	1																																		MYSM1_uc009waa.1_Missense_Mutation_p.D77G|MYSM1_uc001czc.2_RNA	1	1		possibly_damaging(0.867)	p.D671G	NM_001085487	NP_001078956		deleterious(0.01)	1	MYSM1_HUMAN	MYSM1	HGNC	Q5VVJ2	MYSM1_HUMAN					16	2035	-	all_cancers(7;9.36e-06)		UPI0000204444	671			MPN.		SNV	MYSM1,missense_variant,p.Asp671Gly,ENST00000472487,NM_001085487.2;MYSM1,non_coding_transcript_exon_variant,,ENST00000493821,;MYSM1,non_coding_transcript_exon_variant,,ENST00000401044,;	uc009wab.1	c.2012A>G	2052/7785	3	3			c.2012A>G						1	SNP	c.(2011-2013)GAC>GGC	49	49			skin(1)	1	Broad	Myb-like, SWIRM and MPN domains 1			59132729		0.373	ENSG00000162601	9919	g.chr1:59132729T>C	histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity							211.92542	KEEP	29	30	-1	17	26	29	30	-1	212.510177	17	26	0.583333	1	0	0	0	0	1	0	0	0	--	--		0	C			MYSM1_uc009waa.1_Missense_Mutation_p.D77G|MYSM1_uc001czc.2_RNA	81	GBM-06-2557-TP	p.D671G	T	AGCTTGTGTGTCAATATCTCG	NM_001085487	NP_001078956	59132729	Q5VVJ2	MYSM1_HUMAN	0			16	2035	-	C	C	all_cancers(7;9.36e-06)		Missense_Mutation	671			MPN.			
MYSM1	0	broad.mit.edu	GRCh37	1	59141202	59141202	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01	TCGA-26-5132-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000472487.1:c.1441G>A	p.Asp481Asn	p.D481N	ENST00000472487	NM_001085487.2	481	Gac/Aac	0			1			T	D/N	uc009wab.1	protein_coding	YES	CCDS41343.1			1441/2487									skin(1)	1	c.(1441-1443)GAC>AAC			hmmpanther:PTHR12802,hmmpanther:PTHR12802:SF3	Myb-like, SWIRM and MPN domains 1				ENSP00000418734		20-Oct	4.14E-05		9.60E-05					0.000272	rs754518772,COSM2156911	20-Oct	.		ENST00000472487	Transcript			histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	ENSG00000162601	g.chr1:59141202C>T	29401			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=MYSM1_HUMAN&rb=462&re=571&var=D481N	NA	getma.org/?cm=var&var=hg19,1,59141202,C,T&fts=all	D481N	--	--	1																																		MYSM1_uc001czc.2_RNA	0,1	1		benign(0.003)	p.D481N	NM_001085487	NP_001078956		deleterious(0.05)	0,1	MYSM1_HUMAN	MYSM1	HGNC	Q5VVJ2	MYSM1_HUMAN					10	1464	-	all_cancers(7;9.36e-06)		UPI0000204444	481					SNV	MYSM1,missense_variant,p.Asp481Asn,ENST00000472487,NM_001085487.2;MYSM1,non_coding_transcript_exon_variant,,ENST00000493821,;MYSM1,non_coding_transcript_exon_variant,,ENST00000401044,;MYSM1,downstream_gene_variant,,ENST00000481973,;	uc009wab.1	c.1441G>A	1481/7785	1	1			c.1441G>A						1	SNP	c.(1441-1443)GAC>AAC	9	9			skin(1)	1	Broad	Myb-like, SWIRM and MPN domains 1			59141202		0.408	ENSG00000162601	9919	g.chr1:59141202C>T	histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity							61.653067	KEEP	12	14	-1	16	32	12	14	-1	63.080621	16	32	0.33871	1	0	0	0	0	1	0	0	0	--	--		0	T			MYSM1_uc001czc.2_RNA	181	GBM-26-5132-TP	p.D481N	C	TCTTTTCTGTCTCTGATTCGT	NM_001085487	NP_001078956	59141202	Q5VVJ2	MYSM1_HUMAN	0			10	1464	-	T	T	all_cancers(7;9.36e-06)		Missense_Mutation	481						
MYT1L	23040	broad.mit.edu	GRCh37	2	1812887	1812887	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0745-01	TCGA-06-0745-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428368.2:c.3127G>A	p.Gly1043Arg	p.G1043R	ENST00000428368		1043	Gga/Aga	0			1			T	G/R	uc002qxe.2	protein_coding					3133/3561									ovary(5)|central_nervous_system(1)	6	c.(3133-3135)GGA>AGA			hmmpanther:PTHR10816:SF11,hmmpanther:PTHR10816,Superfamily_domains:0042508	myelin transcription factor 1-like				ENSP00000382114		22/25	8.25E-06					1.50E-05			rs774591482,COSM2151708,COSM3407375	22/25	.		ENST00000399161	Transcript			cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000186487	g.chr2:1812887C>T	7623			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=MYT1L_HUMAN&rb=1035&re=1186&var=G1045R	NA	getma.org/?cm=var&var=hg19,2,1812887,C,T&fts=all	G1045R	--	--	1																																		MYT1L_uc002qxd.2_Missense_Mutation_p.G1043R|MYT1L_uc010ewk.2_Missense_Mutation_p.G41R	0,1,1			possibly_damaging(0.823)	p.G1045R	NM_015025	NP_055840		deleterious(0)	0,1,1	MYT1L_HUMAN	MYT1L	HGNC	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)			22	3960	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	UPI0000140B19	1045					SNV	MYT1L,missense_variant,p.Gly1045Arg,ENST00000399161,NM_015025.2;MYT1L,missense_variant,p.Gly1043Arg,ENST00000428368,;MYT1L,missense_variant,p.Gly41Arg,ENST00000407844,;MYT1L,missense_variant,p.Gly99Arg,ENST00000399157,;	uc002qxe.2	c.3133G>A	3881/7063	1	1			c.3133G>A						2	SNP	c.(3133-3135)GGA>AGA	11	11			ovary(5)|central_nervous_system(1)	6	Broad	myelin transcription factor 1-like			1812887		0.592	ENSG00000186487	9925	g.chr2:1812887C>T	cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							170.705926	KEEP	37	20	-1	43	33	37	20	-1	170.963567	43	33	0.45082	1	0	0	0	0	1	0	0	0	--	--		0	T			MYT1L_uc002qxd.2_Missense_Mutation_p.G1043R|MYT1L_uc010ewk.2_Missense_Mutation_p.G41R	67	GBM-06-0745-TP	p.G1045R	C	ATCTGCTCTCCAGAAAGCTTT	NM_015025	NP_055840	1812887	Q9UL68	MYT1L_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	22	3960	-	T	T	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	Missense_Mutation	1045						
MYT1L	0	broad.mit.edu	GRCh37	2	1926184	1926184	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01	TCGA-12-1597-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399161.2:c.1357G>A	p.Ala453Thr	p.A453T	ENST00000399161	NM_015025.2	453	Gcc/Acc	0			1			T	A/T	uc002qxe.2	protein_coding					1357/3561									ovary(5)|central_nervous_system(1)	6	c.(1357-1359)GCC>ACC			Low_complexity_(Seg):seg,hmmpanther:PTHR10816:SF11,hmmpanther:PTHR10816	myelin transcription factor 1-like				ENSP00000382114		25-Oct									COSM3407433,COSM3407432	25-Oct	.		ENST00000399161	Transcript			cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000186487	g.chr2:1926184C>T	7623			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=MYT1L_HUMAN&rb=91&re=462&var=A453T	NA	getma.org/?cm=var&var=hg19,2,1926184,C,T&fts=all	A453T	--	--	1																																		MYT1L_uc002qxd.2_Missense_Mutation_p.A453T|MYT1L_uc010ewl.1_RNA	1,1			benign(0.022)	p.A453T	NM_015025	NP_055840		tolerated(0.13)	1,1	MYT1L_HUMAN	MYT1L	HGNC	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)			10	2184	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	UPI0000140B19	453					SNV	MYT1L,missense_variant,p.Ala453Thr,ENST00000399161,NM_015025.2;MYT1L,missense_variant,p.Ala453Thr,ENST00000428368,;MYT1L,missense_variant,p.Ala107Thr,ENST00000602387,;	uc002qxe.2	c.1357G>A	2105/7063	1	1			c.1357G>A						2	SNP	c.(1357-1359)GCC>ACC	7	7			ovary(5)|central_nervous_system(1)	6	Broad	myelin transcription factor 1-like			1926184		0.537	ENSG00000186487	9925	g.chr2:1926184C>T	cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							297.913475	KEEP	66	42	-1	68	58	66	42	-1	298.00191	68	58	0.477387	1	0	0	0	0	1	0	0	0	--	--		0	T			MYT1L_uc002qxd.2_Missense_Mutation_p.A453T|MYT1L_uc010ewl.1_RNA	124	GBM-12-1597-TP	p.A453T	C	GCTTCCATGGCCATCTTCTCC	NM_015025	NP_055840	1926184	Q9UL68	MYT1L_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	2184	-	T	T	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	Missense_Mutation	453						
MYT1L	0	broad.mit.edu	GRCh37	2	1926965	1926965	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-5139-01	TCGA-26-5139-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399161.2:c.576C>T	p.Asp192=	p.D192=	ENST00000399161	NM_015025.2	192	gaC/gaT	0	C:0.0003		1			A	D	uc002qxe.2	protein_coding					576/3561									ovary(5)|central_nervous_system(1)	6	c.(574-576)GAC>GAT			Low_complexity_(Seg):seg,hmmpanther:PTHR10816:SF11,hmmpanther:PTHR10816	myelin transcription factor 1-like			C:0	ENSP00000382114		25-Oct	4.14E-05		0.000318					0.000134	rs370624330,COSM3407435,COSM3407434	25-Oct	.		ENST00000399161	Transcript			cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000186487	g.chr2:1926965G>A	7623			LOW								--	--	1																																		MYT1L_uc002qxd.2_Silent_p.D192D|MYT1L_uc010ewl.1_RNA	0,1,1				p.D192D	NM_015025	NP_055840			0,1,1	MYT1L_HUMAN	MYT1L	HGNC	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)			10	1403	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	UPI0000140B19	192					SNV	MYT1L,synonymous_variant,p.=,ENST00000399161,NM_015025.2;MYT1L,synonymous_variant,p.=,ENST00000428368,;MYT1L,upstream_gene_variant,,ENST00000602387,;	uc002qxe.2	c.576C>T	1324/7063	1	1			c.576C>T						2	SNP	c.(574-576)GAC>GAT	60	60			ovary(5)|central_nervous_system(1)	6	Broad	myelin transcription factor 1-like			1926965		0.368	ENSG00000186487	9925	g.chr2:1926965G>A	cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							66.039191	KEEP	15	18	-1	24	21	15	18	-1	66.564303	24	21	0.408451	1	0	0	0	0	0	0	1	0	--	--		0	A			MYT1L_uc002qxd.2_Silent_p.D192D|MYT1L_uc010ewl.1_RNA	186	GBM-26-5139-TP	p.D192D	G	TGTCATATTCGTCATTATTGT	NM_015025	NP_055840	1926965	Q9UL68	MYT1L_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	1403	-	A	A	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	Silent	192						
MZT2B	0	broad.mit.edu	GRCh37	2	130948160	130948160	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6700-01	TCGA-06-6700-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281871.6:c.438G>A	p.Gly146=	p.G146=	ENST00000281871	NM_025029.3	146	ggG/ggA	0			1			A	G	uc002tqu.2	protein_coding	YES	CCDS2157.1			438/477										0	c.(436-438)GGG>GGA				hypothetical protein LOC80097				ENSP00000281871		3-Mar									COSM3406865	3-Mar	.		ENST00000281871	Transcript				centrosome|gamma-tubulin ring complex|spindle	protein binding	ENSG00000152082	g.chr2:130948160G>A	25886			LOW								--	--	1																																			1	1			p.G146G	NM_025029	NP_079305			1	MZT2B_HUMAN	MZT2B	HGNC	Q6NZ67	MZT2B_HUMAN					3	591	+	Colorectal(110;0.1)		UPI00001591CB	146					SNV	MZT2B,missense_variant,p.Gly87Arg,ENST00000455239,;MZT2B,synonymous_variant,p.=,ENST00000281871,NM_025029.3;MZT2B,synonymous_variant,p.=,ENST00000409255,;MZT2B,synonymous_variant,p.=,ENST00000425361,;MZT2B,synonymous_variant,p.=,ENST00000457492,;TUBA3E,downstream_gene_variant,,ENST00000312988,NM_207312.2;MZT2B,downstream_gene_variant,,ENST00000491178,;MZT2B,non_coding_transcript_exon_variant,,ENST00000480182,;	uc002tqu.2	c.438G>A	793/933	2	2			c.438G>A						2	SNP	c.(436-438)GGG>GGA	37	37				0	Broad	hypothetical protein LOC80097			130948160		0.647	ENSG00000152082	5348	g.chr2:130948160G>A		centrosome|gamma-tubulin ring complex|spindle	protein binding							24.692443	KEEP	6	6	-1	29	29	6	6	-1	30.125489	29	29	0.186441	1	0	0	0	0	0	0	1	0	--	--		0	A				114	GBM-06-6700-TP	p.G146G	G	TGCCCAAGGGGGGCGGGCCTG	NM_025029	NP_079305	130948160	Q6NZ67	MZT2B_HUMAN	0			3	591	+	A	A	Colorectal(110;0.1)		Silent	146						
N4BP2	55728	broad.mit.edu	GRCh37	4	40122570	40122570	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0141-01	TCGA-06-0141-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261435.6:c.2839G>T	p.Gly947Ter	p.G947*	ENST00000261435	NM_018177.4	947	Gga/Tga	0			1			T	G/*	uc003guy.3	protein_coding	YES	CCDS3457.1			2839/5313									lung(3)|breast(2)|kidney(2)|ovary(1)	8	c.(2839-2841)GGA>TGA			hmmpanther:PTHR13308:SF16,hmmpanther:PTHR13308	Nedd4 binding protein 2				ENSP00000261435		18-Sep									COSM3409291	18-Sep	.		ENST00000261435	Transcript				cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	ENSG00000078177	g.chr4:40122570G>T	29851			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,4,40122570,G,T&fts=all	G947*	--	--	1																																		N4BP2_uc010ifq.2_Nonsense_Mutation_p.G867*|N4BP2_uc010ifr.2_Nonsense_Mutation_p.G867*	1	1			p.G947*	NM_018177	NP_060647			1	N4BP2_HUMAN	N4BP2	HGNC	Q86UW6	N4BP2_HUMAN			D6R9J2_HUMAN		9	3177	+			UPI00001A962C	947					SNV	N4BP2,stop_gained,p.Gly947Ter,ENST00000261435,NM_018177.4;N4BP2,stop_gained,p.Gly594Ter,ENST00000513269,;N4BP2,3_prime_UTR_variant,,ENST00000511480,;	uc003guy.3	c.2839G>T	3255/9744	5	2			c.2839G>T						4	SNP	c.(2839-2841)GGA>TGA	32	32			lung(3)|breast(2)|kidney(2)|ovary(1)	8	Broad	Nedd4 binding protein 2			40122570		0.408	ENSG00000078177	9928	g.chr4:40122570G>T		cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			693			693	-1.286315	KEEP	3	6	0.333333333	45	59	3	6	0.333333333	17.246088	45	59	0.078431	1	0	0	0	0	0	1	0	0	--	--		0	T			N4BP2_uc010ifq.2_Nonsense_Mutation_p.G867*|N4BP2_uc010ifr.2_Nonsense_Mutation_p.G867*	21	GBM-06-0141-TP	p.G947*	G	CTCCAATCTAGGAAGTTCTGA	NM_018177	NP_060647	40122570	Q86UW6	N4BP2_HUMAN	0			9	3177	+	T	T			Nonsense_Mutation	947						
N4BP2	0	broad.mit.edu	GRCh37	4	40119548	40119548	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2523-01	TCGA-27-2523-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261435.6:c.1724G>A	p.Arg575His	p.R575H	ENST00000261435	NM_018177.4	575	cGt/cAt	0			1			A	R/H	uc003guy.3	protein_coding	YES	CCDS3457.1			1724/5313									lung(3)|breast(2)|kidney(2)|ovary(1)	8	c.(1723-1725)CGT>CAT			hmmpanther:PTHR13308:SF16,hmmpanther:PTHR13308,Pfam_domain:PF13671	Nedd4 binding protein 2				ENSP00000261435		18-Aug	4.12E-05	9.63E-05	8.65E-05	0.000347					rs780476202,COSM3409290	18-Aug	.		ENST00000261435	Transcript				cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	ENSG00000078177	g.chr4:40119548G>A	29851			MODERATE		0.44	neutral	getma.org/?cm=msa&ty=f&p=N4BP2_HUMAN&rb=442&re=576&var=R575H	NA	getma.org/?cm=var&var=hg19,4,40119548,G,A&fts=all	R575H	--	--	1																																		N4BP2_uc010ifq.2_Missense_Mutation_p.R495H|N4BP2_uc010ifr.2_Missense_Mutation_p.R495H	0,1	1		probably_damaging(0.971)	p.R575H	NM_018177	NP_060647		tolerated(0.13)	0,1	N4BP2_HUMAN	N4BP2	HGNC	Q86UW6	N4BP2_HUMAN			D6R9J2_HUMAN		8	2062	+			UPI00001A962C	575					SNV	N4BP2,missense_variant,p.Arg575His,ENST00000261435,NM_018177.4;N4BP2,missense_variant,p.Arg222His,ENST00000513269,;N4BP2,3_prime_UTR_variant,,ENST00000511480,;	uc003guy.3	c.1724G>A	2140/9744	1	1			c.1724G>A						4	SNP	c.(1723-1725)CGT>CAT	54	54			lung(3)|breast(2)|kidney(2)|ovary(1)	8	Broad	Nedd4 binding protein 2			40119548		0.363	ENSG00000078177	9928	g.chr4:40119548G>A		cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			693			693	138.51364	KEEP	19	31	-1	37	28	19	31	-1	138.907872	37	28	0.435185	1	0	0	0	0	1	0	0	0	--	--		0	A			N4BP2_uc010ifq.2_Missense_Mutation_p.R495H|N4BP2_uc010ifr.2_Missense_Mutation_p.R495H	201	GBM-27-2523-TP	p.R575H	G	CATTATCAACGTTTTGTTTCA	NM_018177	NP_060647	40119548	Q86UW6	N4BP2_HUMAN	0			8	2062	+	A	A			Missense_Mutation	575						
N4BP2	0	broad.mit.edu	GRCh37	4	40127847	40127847	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01	TCGA-76-6193-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261435.6:c.4424C>T	p.Ser1475Phe	p.S1475F	ENST00000261435	NM_018177.4	1475	tCt/tTt	0			1			T	S/F	uc003guy.3	protein_coding	YES	CCDS3457.1			4424/5313									lung(3)|breast(2)|kidney(2)|ovary(1)	8	c.(4423-4425)TCT>TTT			hmmpanther:PTHR13308:SF16,hmmpanther:PTHR13308	Nedd4 binding protein 2				ENSP00000261435		18-Dec									COSM3409292	18-Dec	.		ENST00000261435	Transcript				cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	ENSG00000078177	g.chr4:40127847C>T	29851			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=N4BP2_HUMAN&rb=1357&re=1556&var=S1475F	NA	getma.org/?cm=var&var=hg19,4,40127847,C,T&fts=all	S1475F	--	--	1																																		N4BP2_uc010ifq.2_Missense_Mutation_p.S1395F|N4BP2_uc010ifr.2_Missense_Mutation_p.S1395F	1	1		benign(0.143)	p.S1475F	NM_018177	NP_060647		deleterious(0.01)	1	N4BP2_HUMAN	N4BP2	HGNC	Q86UW6	N4BP2_HUMAN			D6R9J2_HUMAN		12	4762	+			UPI00001A962C	1475					SNV	N4BP2,missense_variant,p.Ser1475Phe,ENST00000261435,NM_018177.4;N4BP2,missense_variant,p.Ser1122Phe,ENST00000513269,;N4BP2,3_prime_UTR_variant,,ENST00000511480,;	uc003guy.3	c.4424C>T	4840/9744	1	1			c.4424C>T						4	SNP	c.(4423-4425)TCT>TTT	1	1			lung(3)|breast(2)|kidney(2)|ovary(1)	8	Broad	Nedd4 binding protein 2			40127847		0.338	ENSG00000078177	9928	g.chr4:40127847C>T		cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			693			693	71.392982	KEEP	12	16	-1	37	51	12	16	-1	78.382098	37	51	0.236364	1	0	0	0	0	1	0	0	0	--	--		0	T			N4BP2_uc010ifq.2_Missense_Mutation_p.S1395F|N4BP2_uc010ifr.2_Missense_Mutation_p.S1395F	276	GBM-76-6193-TP	p.S1475F	C	TTAACAGCATCTGAAATGCTA	NM_018177	NP_060647	40127847	Q86UW6	N4BP2_HUMAN	0			12	4762	+	T	T			Missense_Mutation	1475						
N4BP2	55728		GRCh37	4	40122526	40122526	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000261435.6:c.2795G>A	p.Gly932Asp	p.G932D	ENST00000261435	NM_018177.4	932	gGc/gAc	0																																																																																																																																																																																																																																												
N4BP2L2	10443	broad.mit.edu	GRCh37	13	33017656	33017656	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0876-01	TCGA-06-0876-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399396.3:c.1018C>T	p.Gln340Ter	p.Q340*	ENST00000399396	NM_033111.4	340	Caa/Taa	0			1			A	Q/*	uc010abe.1	protein_coding	YES	CCDS45024.1			1018/2259										0	c.(1018-1020)CAA>TAA			hmmpanther:PTHR13308,hmmpanther:PTHR13308:SF19	phosphonoformate immuno-associated protein 5				ENSP00000382328		10-Jul									COSM2152104	10-Jul	.		ENST00000399396	Transcript						ENSG00000244754	g.chr13:33017656G>A	26916			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,13,33017656,G,A&fts=all	Q223*	--	--	1																																		N4BP2L2_uc001uug.2_Nonsense_Mutation_p.Q223*|N4BP2L2_uc010abd.1_Nonsense_Mutation_p.Q253*|N4BP2L2_uc001uuh.2_Nonsense_Mutation_p.Q171*|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Nonsense_Mutation_p.Q325*	1	1			p.Q340*	NM_033111	NP_149102			1	N42L2_HUMAN	N4BP2L2	HGNC	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	Q6ZV26_HUMAN,B4DPY1_HUMAN		7	1040	-		Lung SC(185;0.0262)	UPI00015C73C2	Error:Variant_position_missing_in_Q92802_after_alignment					SNV	N4BP2L2,stop_gained,p.Gln325Ter,ENST00000357505,NM_001278432.1;N4BP2L2,stop_gained,p.Gln325Ter,ENST00000504114,;N4BP2L2,stop_gained,p.Gln340Ter,ENST00000399396,NM_033111.4;N4BP2L2,intron_variant,,ENST00000446957,;N4BP2L2,downstream_gene_variant,,ENST00000505213,;N4BP2L2,non_coding_transcript_exon_variant,,ENST00000380121,;N4BP2L2,non_coding_transcript_exon_variant,,ENST00000503296,;N4BP2L2,downstream_gene_variant,,ENST00000473025,;N4BP2L2,non_coding_transcript_exon_variant,,ENST00000509076,;	uc010abe.1	c.1018C>T	1040/2482	5	1			c.1018C>T						13	SNP	c.(1018-1020)CAA>TAA	63	63				0	Broad	phosphonoformate immuno-associated protein 5			33017656		0.353	ENSG00000244754	9930	g.chr13:33017656G>A										31.353741	KEEP	8	6	-1	21	13	8	6	-1	33.308049	21	13	0.282609	1	0	0	0	0	0	1	0	0	--	--		0	A			N4BP2L2_uc001uug.2_Nonsense_Mutation_p.Q223*|N4BP2L2_uc010abd.1_Nonsense_Mutation_p.Q253*|N4BP2L2_uc001uuh.2_Nonsense_Mutation_p.Q171*|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Nonsense_Mutation_p.Q325*	72	GBM-06-0876-TP	p.Q340*	G	ATTCCATGTTGATGGCACAGA	NM_033111	NP_149102	33017656	Q92802	N42L2_HUMAN	0		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	7	1040	-	A	A		Lung SC(185;0.0262)	Nonsense_Mutation	Error:Variant_position_missing_in_Q92802_after_alignment						
N4BP3	23138		GRCh37	5	177547670	177547670	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000274605.5:c.822C>T	p.Gly274=	p.G274=	ENST00000274605	NM_015111.1	274	ggC/ggT	0																																																																																																																																																																																																																																												
N6AMT2	0	broad.mit.edu	GRCh37	13	21331636	21331636	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2559-01	TCGA-06-2559-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382758.1:c.102C>T	p.Gly34=	p.G34=	ENST00000382758		34	ggC/ggT	0			1			A	G	uc001uno.1	protein_coding		CCDS9293.1			102/645										0	c.(100-102)GGC>GGT			hmmpanther:PTHR13200:SF0,hmmpanther:PTHR13200	N-6 adenine-specific DNA methyltransferase 2				ENSP00000372202		5-Feb	2.47E-05					1.50E-05		0.000121	rs558722857,COSM945904	5-Feb	.		ENST00000382754	Transcript					methyltransferase activity|nucleic acid binding	ENSG00000150456	g.chr13:21331636G>A	27351			LOW								--	--	1																																		N6AMT2_uc009zzr.1_Silent_p.G34G|N6AMT2_uc001unp.2_RNA	0,1				p.G34G	NM_174928	NP_777588			0,1	N6MT2_HUMAN	N6AMT2	HGNC	Q8WVE0	N6MT2_HUMAN		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)	B3KP02_HUMAN		2	183	-		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)	UPI0000039E71	34					SNV	N6AMT2,synonymous_variant,p.=,ENST00000382758,;N6AMT2,synonymous_variant,p.=,ENST00000382754,NM_174928.1;N6AMT2,non_coding_transcript_exon_variant,,ENST00000460374,;	uc001uno.1	c.102C>T	183/875	1	1			c.102C>T						13	SNP	c.(100-102)GGC>GGT	56	56				0	Broad	N-6 adenine-specific DNA methyltransferase 2			21331636		0.418	ENSG00000150456	9933	g.chr13:21331636G>A			methyltransferase activity|nucleic acid binding							105.875642	KEEP	28	20	-1	80	79	28	20	-1	118.090774	80	79	0.235602	1	0	0	0	0	0	0	1	0	--	--		0	A			N6AMT2_uc009zzr.1_Silent_p.G34G|N6AMT2_uc001unp.2_RNA	83	GBM-06-2559-TP	p.G34G	G	TATCATCCTCGCCTGGCTCAA	NM_174928	NP_777588	21331636	Q8WVE0	N6MT2_HUMAN	0		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)	2	183	-	A	A		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)	Silent	34						
NAA11	0	broad.mit.edu	GRCh37	4	80246554	80246554	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6193-01	TCGA-76-6193-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286794.4:c.478C>T	p.Arg160Ter	p.R160*	ENST00000286794	NM_032693.2	160	Cga/Tga	0			1			A	R/*	uc003hlt.3	protein_coding	YES	CCDS47084.1			478/690									ovary(1)|central_nervous_system(1)	2	c.(478-480)CGA>TGA			hmmpanther:PTHR23091,hmmpanther:PTHR23091:SF205	alpha-N-acetyltransferase 1B				ENSP00000286794		2-Jan									COSM1619125	2-Jan	.		ENST00000286794	Transcript				cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	ENSG00000156269	g.chr4:80246554G>A	28125			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,4,80246554,G,A&fts=all	R160*	--	--	1																																			1	1			p.R160*	NM_032693	NP_116082			1	NAA11_HUMAN	NAA11	HGNC	Q9BSU3	NAA11_HUMAN			H0Y8T0_HUMAN		1	618	-			UPI00000467CA	160					SNV	NAA11,stop_gained,p.Arg160Ter,ENST00000286794,NM_032693.2;NAA11,non_coding_transcript_exon_variant,,ENST00000513733,;NAA11,stop_gained,p.Arg42Ter,ENST00000511542,;	uc003hlt.3	c.478C>T	651/2014	5	2			c.478C>T						4	SNP	c.(478-480)CGA>TGA	25	25			ovary(1)|central_nervous_system(1)	2	Broad	alpha-N-acetyltransferase 1B			80246554		0.517	ENSG00000156269	9935	g.chr4:80246554G>A		cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding							12.099121	KEEP	6	2	-1	19	19	6	2	-1	16.970531	19	19	0.159091	1	0	0	0	0	0	1	0	0	--	--		0	A				276	GBM-76-6193-TP	p.R160*	G	TCCATTTGTCGTCTCAGCTCA	NM_032693	NP_116082	80246554	Q9BSU3	NAA11_HUMAN	0			1	618	-	A	A			Nonsense_Mutation	160						
NAA30	0	broad.mit.edu	GRCh37	14	57858239	57858239	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-12-1597-01	TCGA-12-1597-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000556492.1:c.564T>G	p.Ser188=	p.S188=	ENST00000556492	NM_001011713.2	188	tcT/tcG	0			1			G	S	uc001xcx.3	protein_coding	YES	CCDS32088.1			564/1089									skin(1)	1	c.(562-564)TCT>TCG			hmmpanther:PTHR23091,hmmpanther:PTHR23091:SF209	N-acetyltransferase 12				ENSP00000452521		5-Feb									COSM3401362	5-Feb	.		ENST00000556492	Transcript				cytoplasm	peptide alpha-N-acetyltransferase activity	ENSG00000139977	g.chr14:57858239T>G	19844			LOW								--	--	1																																		NAA30_uc010trk.1_Intron|NAA30_uc010aow.2_Intron	1	1			p.S188S	NM_001011713	NP_001011713			1	NAA30_HUMAN	NAA30	HGNC	Q147X3	NAA30_HUMAN			B4DK34_HUMAN		2	718	+			UPI0000161013	188					SNV	NAA30,synonymous_variant,p.=,ENST00000556492,NM_001011713.2;NAA30,intron_variant,,ENST00000298406,;NAA30,intron_variant,,ENST00000555166,;NAA30,intron_variant,,ENST00000554703,;	uc001xcx.3	c.564T>G	718/7644	3	3			c.564T>G						14	SNP	c.(562-564)TCT>TCG	15	15			skin(1)	1	Broad	N-acetyltransferase 12			57858239		0.657	ENSG00000139977	9940	g.chr14:57858239T>G		cytoplasm	peptide alpha-N-acetyltransferase activity							5.279032	KEEP	2	5	-1	16	18	2	5	-1	9.194608	16	18	0.133333	1	0	0	0	0	0	0	1	0	--	--		0	G			NAA30_uc010trk.1_Intron|NAA30_uc010aow.2_Intron	124	GBM-12-1597-TP	p.S188S	T	GGCTGCTGTCTTCGTCCCTGA	NM_001011713	NP_001011713	57858239	Q147X3	NAA30_HUMAN	0			2	718	+	G	G			Silent	188						
NAA35	0	broad.mit.edu	GRCh37	9	88633637	88633637	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-76-4929-01	TCGA-76-4929-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361671.5:c.1938T>C	p.Tyr646=	p.Y646=	ENST00000361671	NM_024635.3	646	taT/taC	0			1			C	Y	uc004aoi.3	protein_coding	YES	CCDS6673.1			1938/2178									skin(2)|central_nervous_system(1)	3	c.(1936-1938)TAT>TAC			hmmpanther:PTHR21373	corneal wound healing-related protein				ENSP00000354972		21/23	8.24E-06		8.64E-05						rs764827218,COSM3413792	21/23	.		ENST00000361671	Transcript			smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		ENSG00000135040	g.chr9:88633637T>C	24340			LOW								--	--	1																																		NAA35_uc004aoj.3_Silent_p.Y646Y	0,1	1			p.Y646Y	NM_024635	NP_078911			0,1	NAA35_HUMAN	NAA35	HGNC	Q5VZE5	NAA35_HUMAN					21	2075	+			UPI000004FA2B	646					SNV	NAA35,synonymous_variant,p.=,ENST00000361671,NM_024635.3;	uc004aoi.3	c.1938T>C	2071/2649	3	3			c.1938T>C						9	SNP	c.(1936-1938)TAT>TAC	12	12			skin(2)|central_nervous_system(1)	3	Broad	corneal wound healing-related protein			88633637		0.363	ENSG00000135040	9941	g.chr9:88633637T>C	smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane								460.735131	KEEP	77	68	-1	91	83	77	68	-1	461.383907	91	83	0.448399	1	0	0	0	0	0	0	1	0	--	--		0	C			NAA35_uc004aoj.3_Silent_p.Y646Y	269	GBM-76-4929-TP	p.Y646Y	T	TCAATAAATATAGCCCTCCTC	NM_024635	NP_078911	88633637	Q5VZE5	NAA35_HUMAN	0			21	2075	+	C	C			Silent	646						
NAA35	60560		GRCh37	9	88576949	88576950	+	frameshift_variant	Frame_Shift_Del	DEL	TC	TC	-			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000361671.5:c.370_371del	p.Ser124ThrfsTer13	p.S124Tfs*13	ENST00000361671	NM_024635.3	124	TCa/a	0																																																																																																																																																																																																																																												
NAAA	0	broad.mit.edu	GRCh37	4	76836138	76836138	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A			TCGA-32-1977-01	TCGA-32-1977-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286733.4:c.999C>T	p.Asn333=	p.N333=	ENST00000286733	NM_014435.3	333	aaC/aaT	0			1			A	N	uc003hjb.2	protein_coding	YES	CCDS43239.1			999/1080									skin(1)	1	c.(997-999)AAC>AAT			PIRSF_domain:PIRSF017632	N-acylethanolamine acid amidase isoform 1				ENSP00000286733		11-Oct	8.28E-06			0.000116					rs775392768,COSM3409490	11-Oct	.		ENST00000286733	Transcript			lipid metabolic process	lysosome	hydrolase activity	ENSG00000138744	g.chr4:76836138G>A	736			LOW								--	--	1																																		NAAA_uc003hja.2_Intron	0,1	1			p.N333N	NM_014435	NP_055250			0,1	NAAA_HUMAN	NAAA	HGNC	Q02083	NAAA_HUMAN					10	1063	-			UPI00001AEAEE	333					SNV	NAAA,splice_region_variant,p.=,ENST00000286733,NM_014435.3;NAAA,intron_variant,,ENST00000399497,NM_001042402.1;NAAA,downstream_gene_variant,,ENST00000505594,;NAAA,downstream_gene_variant,,ENST00000507956,;NAAA,downstream_gene_variant,,ENST00000602782,;NAAA,intron_variant,,ENST00000511606,;NAAA,missense_variant,p.Leu129Phe,ENST00000513045,;	uc003hjb.2	c.999C>T	1101/1897	1	1			c.999C>T						4	SNP	c.(997-999)AAC>AAT	64	64			skin(1)	1	Broad	N-acylethanolamine acid amidase isoform 1			76836138		0.408	ENSG00000138744	9945	g.chr4:76836138G>A	lipid metabolic process	lysosome	hydrolase activity							81.537883	KEEP	17	30	-1	71	111	17	30	-1	98.925171	71	111	0.199029	1	0	0	0	0	0	0	1	0	--	--		0	A			NAAA_uc003hja.2_Intron	229	GBM-32-1977-TP	p.N333N	G	AAATTGTGAAGCTGAAAATTA	NM_014435	NP_055250	76836138	Q02083	NAAA_HUMAN	0			10	1063	-	A	A			Silent	333						
NAALAD2	10003	broad.mit.edu	GRCh37	11	89868837	89868837	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-0003-01	TCGA-02-0003-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000534061.1:c.193C>T	p.Arg65Cys	p.R65C	ENST00000534061	NM_005467.3	65	Cgt/Tgt	0			1			T	R/C	uc001pdf.3	protein_coding	YES	CCDS8288.1			193/2223									pancreas(1)|skin(1)	2	c.(193-195)CGT>TGT			Gene3D:3.40.630.10,hmmpanther:PTHR10404,hmmpanther:PTHR10404:SF38,Superfamily_domains:SSF53187	N-acetylated alpha-linked acidic dipeptidase 2				ENSP00000432481		19-Feb									COSM932955	19-Feb	.		ENST00000534061	Transcript			proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	ENSG00000077616	g.chr11:89868837C>T	14526			MODERATE		2.895	medium	getma.org/?cm=msa&ty=f&p=NALD2_HUMAN&rb=1&re=154&var=R65C	getma.org/pdb.php?prot=NALD2_HUMAN&from=1&to=154&var=R65C	getma.org/?cm=var&var=hg19,11,89868837,C,T&fts=all	R65C	--	--	1																																		NAALAD2_uc009yvx.2_Missense_Mutation_p.R65C|NAALAD2_uc009yvy.2_Missense_Mutation_p.R65C|NAALAD2_uc001pdd.2_Missense_Mutation_p.R65C|NAALAD2_uc001pde.2_Missense_Mutation_p.R65C	1	1		benign(0.034)	p.R65C	NM_005467	NP_005458		deleterious(0.01)	1	NALD2_HUMAN	NAALAD2	HGNC	Q9Y3Q0	NALD2_HUMAN			E9PJ53_HUMAN,E9PII2_HUMAN		2	302	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	UPI0000031A85	65			Extracellular (Potential).		SNV	NAALAD2,missense_variant,p.Arg65Cys,ENST00000534061,NM_005467.3;NAALAD2,missense_variant,p.Arg65Cys,ENST00000321955,;NAALAD2,missense_variant,p.Arg65Cys,ENST00000525171,;NAALAD2,missense_variant,p.Arg65Cys,ENST00000375944,;NAALAD2,missense_variant,p.Arg65Cys,ENST00000525497,;NAALAD2,missense_variant,p.Arg11Cys,ENST00000526637,;NAALAD2,missense_variant,p.Arg65Cys,ENST00000527493,;NAALAD2,splice_region_variant,,ENST00000524501,;NAALAD2,splice_region_variant,,ENST00000529090,;	uc001pdf.3	c.193C>T	423/3600	1	1			c.193C>T						11	SNP	c.(193-195)CGT>TGT	8	8			pancreas(1)|skin(1)	2	Broad	N-acetylated alpha-linked acidic dipeptidase 2			89868837		0.348	ENSG00000077616	9946	g.chr11:89868837C>T	proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity							101.522723	KEEP	18	19	-1	17	18	18	19	-1	101.535453	17	18	0.514706	1	0	0	0	0	1	0	0	0	--	--		0	T			NAALAD2_uc009yvx.2_Missense_Mutation_p.R65C|NAALAD2_uc009yvy.2_Missense_Mutation_p.R65C|NAALAD2_uc001pdd.2_Missense_Mutation_p.R65C|NAALAD2_uc001pde.2_Missense_Mutation_p.R65C	1	GBM-02-0003-TP	p.R65C	C	ATCATTTCTTCGGTAAGTTTA	NM_005467	NP_005458	89868837	Q9Y3Q0	NALD2_HUMAN	0			2	302	+	T	T		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	Missense_Mutation	65			Extracellular (Potential).			
NAALAD2	10003	broad.mit.edu	GRCh37	11	89902152	89902152	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0158-01	TCGA-06-0158-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000534061.1:c.1334C>G	p.Ser445Cys	p.S445C	ENST00000534061	NM_005467.3	445	tCt/tGt	0			1			G	S/C	uc001pdf.3	protein_coding	YES	CCDS8288.1			1334/2223									pancreas(1)|skin(1)	2	c.(1333-1335)TCT>TGT			Gene3D:3.40.630.10,Pfam_domain:PF04389,hmmpanther:PTHR10404,hmmpanther:PTHR10404:SF38,Superfamily_domains:SSF53187	N-acetylated alpha-linked acidic dipeptidase 2				ENSP00000432481		19-Dec									COSM2150136	19-Dec	.		ENST00000534061	Transcript			proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	ENSG00000077616	g.chr11:89902152C>G	14526			MODERATE		2.14	medium	getma.org/?cm=msa&ty=f&p=NALD2_HUMAN&rb=360&re=554&var=S445C	getma.org/pdb.php?prot=NALD2_HUMAN&from=360&to=554&var=S445C	getma.org/?cm=var&var=hg19,11,89902152,C,G&fts=all	S445C	--	--	1																																		NAALAD2_uc009yvx.2_Missense_Mutation_p.S412C|NAALAD2_uc009yvy.2_Intron	1	1		probably_damaging(0.957)	p.S445C	NM_005467	NP_005458		deleterious(0)	1	NALD2_HUMAN	NAALAD2	HGNC	Q9Y3Q0	NALD2_HUMAN			E9PJ53_HUMAN,E9PII2_HUMAN		12	1443	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	UPI0000031A85	445			Extracellular (Potential).|NAALADase.		SNV	NAALAD2,missense_variant,p.Ser445Cys,ENST00000534061,NM_005467.3;NAALAD2,missense_variant,p.Ser412Cys,ENST00000321955,;NAALAD2,intron_variant,,ENST00000375944,;NAALAD2,downstream_gene_variant,,ENST00000525171,;NAALAD2,non_coding_transcript_exon_variant,,ENST00000532691,;NAALAD2,downstream_gene_variant,,ENST00000524501,;NAALAD2,downstream_gene_variant,,ENST00000527493,;	uc001pdf.3	c.1334C>G	1564/3600	3	3			c.1334C>G						11	SNP	c.(1333-1335)TCT>TGT	52	52			pancreas(1)|skin(1)	2	Broad	N-acetylated alpha-linked acidic dipeptidase 2			89902152		0.294	ENSG00000077616	9946	g.chr11:89902152C>G	proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity							137.537126	KEEP	28	16	-1	25	30	28	16	-1	138.011999	25	30	0.422222	1	0	0	0	0	1	0	0	0	--	--		0	G			NAALAD2_uc009yvx.2_Missense_Mutation_p.S412C|NAALAD2_uc009yvy.2_Intron	29	GBM-06-0158-TP	p.S445C	C	TCGGATTCATCTATAGAAGGT	NM_005467	NP_005458	89902152	Q9Y3Q0	NALD2_HUMAN	0			12	1443	+	G	G		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	Missense_Mutation	445			Extracellular (Potential).|NAALADase.			
NAALAD2	0	broad.mit.edu	GRCh37	11	89882229	89882229	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-4932-01	TCGA-76-4932-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000534061.1:c.437A>G	p.Asn146Ser	p.N146S	ENST00000534061	NM_005467.3	146	aAt/aGt	0			1			G	N/S	uc001pdf.3	protein_coding	YES	CCDS8288.1			437/2223									pancreas(1)|skin(1)	2	c.(436-438)AAT>AGT			Gene3D:3.50.30.30,hmmpanther:PTHR10404,hmmpanther:PTHR10404:SF38,Superfamily_domains:SSF52025	N-acetylated alpha-linked acidic dipeptidase 2				ENSP00000432481		19-Apr									COSM3398189	19-Apr	.		ENST00000534061	Transcript			proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	ENSG00000077616	g.chr11:89882229A>G	14526			MODERATE		0.855	low	getma.org/?cm=msa&ty=f&p=NALD2_HUMAN&rb=1&re=154&var=N146S	getma.org/pdb.php?prot=NALD2_HUMAN&from=1&to=154&var=N146S	getma.org/?cm=var&var=hg19,11,89882229,A,G&fts=all	N146S	--	--	1																																		NAALAD2_uc009yvx.2_Missense_Mutation_p.N146S|NAALAD2_uc009yvy.2_Missense_Mutation_p.N146S|NAALAD2_uc001pdd.2_Missense_Mutation_p.N146S|NAALAD2_uc001pde.2_Missense_Mutation_p.N146S	1	1		benign(0.001)	p.N146S	NM_005467	NP_005458		tolerated(0.2)	1	NALD2_HUMAN	NAALAD2	HGNC	Q9Y3Q0	NALD2_HUMAN			E9PJ53_HUMAN,E9PII2_HUMAN		4	546	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	UPI0000031A85	146			Extracellular (Potential).		SNV	NAALAD2,missense_variant,p.Asn146Ser,ENST00000534061,NM_005467.3;NAALAD2,missense_variant,p.Asn146Ser,ENST00000321955,;NAALAD2,missense_variant,p.Asn146Ser,ENST00000525171,;NAALAD2,missense_variant,p.Asn146Ser,ENST00000375944,;NAALAD2,missense_variant,p.Asn92Ser,ENST00000526637,;NAALAD2,downstream_gene_variant,,ENST00000525497,;NAALAD2,missense_variant,p.Asn146Ser,ENST00000527493,;NAALAD2,non_coding_transcript_exon_variant,,ENST00000524501,;NAALAD2,non_coding_transcript_exon_variant,,ENST00000529090,;	uc001pdf.3	c.437A>G	667/3600	3	3			c.437A>G						11	SNP	c.(436-438)AAT>AGT	51	51			pancreas(1)|skin(1)	2	Broad	N-acetylated alpha-linked acidic dipeptidase 2			89882229		0.328	ENSG00000077616	9946	g.chr11:89882229A>G	proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity							404.398893	KEEP	72	67	-1	114	117	72	67	-1	407.296985	114	117	0.393103	1	0	0	0	0	1	0	0	0	--	--		0	G			NAALAD2_uc009yvx.2_Missense_Mutation_p.N146S|NAALAD2_uc009yvy.2_Missense_Mutation_p.N146S|NAALAD2_uc001pdd.2_Missense_Mutation_p.N146S|NAALAD2_uc001pde.2_Missense_Mutation_p.N146S	271	GBM-76-4932-TP	p.N146S	A	AATGTTACAAATATTGTGCCA	NM_005467	NP_005458	89882229	Q9Y3Q0	NALD2_HUMAN	0			4	546	+	G	G		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	Missense_Mutation	146			Extracellular (Potential).			
NAALADL1	10004	broad.mit.edu	GRCh37	11	64822202	64822202	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0210-01	TCGA-06-0210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358658.3:c.612C>T	p.Asn204=	p.N204=	ENST00000358658	NM_005468.2	204	aaC/aaT	0	A:0		1			A	N	uc001ocn.2	protein_coding	YES	CCDS31604.1			612/2223										0	c.(610-612)AAC>AAT			Gene3D:3.50.30.30,Pfam_domain:PF02225,hmmpanther:PTHR10404,hmmpanther:PTHR10404:SF40,Superfamily_domains:SSF52025	N-acetylated alpha-linked acidic			A:0.0001	ENSP00000351484		18-May	6.59E-05		0.000173			6.04E-05		0.000125	rs374873025,COSM3398036	18-May	.		ENST00000358658	Transcript			proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	ENSG00000168060	g.chr11:64822202G>A	23536			LOW								--	--	1																																		NAALADL1_uc010rnw.1_Translation_Start_Site	0,1	1			p.N204N	NM_005468	NP_005459			0,1	NALDL_HUMAN	NAALADL1	HGNC	Q9UQQ1	NALDL_HUMAN			E9PRC7_HUMAN,E9PLR8_HUMAN,E9PKW7_HUMAN,E9PKG8_HUMAN,E9PJQ1_HUMAN,E9PIU1_HUMAN,E9PII9_HUMAN		5	628	-			UPI000013E761	204			Extracellular (Potential).		SNV	NAALADL1,synonymous_variant,p.=,ENST00000358658,NM_005468.2;NAALADL1,synonymous_variant,p.=,ENST00000339885,;NAALADL1,synonymous_variant,p.=,ENST00000355369,;NAALADL1,synonymous_variant,p.=,ENST00000340252,;NAALADL1,synonymous_variant,p.=,ENST00000356632,;NAALADL1,synonymous_variant,p.=,ENST00000355721,;RN7SL114P,upstream_gene_variant,,ENST00000582042,;NAALADL1,non_coding_transcript_exon_variant,,ENST00000529274,;NAALADL1,non_coding_transcript_exon_variant,,ENST00000528977,;	uc001ocn.2	c.612C>T	640/2699	2	2			c.612C>T						11	SNP	c.(610-612)AAC>AAT	47	47				0	Broad	N-acetylated alpha-linked acidic			64822202		0.597	ENSG00000168060	9947	g.chr11:64822202G>A	proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity							-9.438492	KEEP	1	5	-1	58	60	1	5	-1	11.909227	58	60	0.057692	1	0	0	0	0	0	0	1	0	--	--		0	A			NAALADL1_uc010rnw.1_Translation_Start_Site	47	GBM-06-0210-TP	p.N204N	G	GCTTGGCAGCGTTCACAGCCT	NM_005468	NP_005459	64822202	Q9UQQ1	NALDL_HUMAN	0			5	628	-	A	A			Silent	204			Extracellular (Potential).			
NAALADL1	0	broad.mit.edu	GRCh37	11	64821985	64821985	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs138766443		TCGA-14-0781-01	TCGA-14-0781-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358658.3:c.829G>A	p.Gly277Arg	p.G277R	ENST00000358658	NM_005468.2	277	Gga/Aga	0	T:0.0002		1			T	G/R	uc001ocn.2	protein_coding	YES	CCDS31604.1			829/2223										0	c.(829-831)GGA>AGA			Gene3D:3.50.30.30,hmmpanther:PTHR10404,hmmpanther:PTHR10404:SF40,Superfamily_domains:SSF52025	N-acetylated alpha-linked acidic			T:0.0001	ENSP00000351484		18-May	3.29E-05					4.53E-05		6.08E-05	rs138766443,COSM3398035	18-May	.		ENST00000358658	Transcript			proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	ENSG00000168060	g.chr11:64821985C>T	23536			MODERATE		2.275	medium	getma.org/?cm=msa&ty=f&p=NALDL_HUMAN&rb=252&re=360&var=G277R	getma.org/pdb.php?prot=NALDL_HUMAN&from=252&to=360&var=G277R	getma.org/?cm=var&var=hg19,11,64821985,C,T&fts=all	G277R	--	--	1																																		NAALADL1_uc010rnw.1_5'UTR	0,1	1		benign(0.348)	p.G277R	NM_005468	NP_005459		deleterious(0)	0,1	NALDL_HUMAN	NAALADL1	HGNC	Q9UQQ1	NALDL_HUMAN			E9PRC7_HUMAN,E9PLR8_HUMAN,E9PKW7_HUMAN,E9PKG8_HUMAN,E9PJQ1_HUMAN,E9PIU1_HUMAN,E9PII9_HUMAN		5	845	-			UPI000013E761	277			NAALADase.|Extracellular (Potential).		SNV	NAALADL1,missense_variant,p.Gly277Arg,ENST00000358658,NM_005468.2;NAALADL1,missense_variant,p.Gly277Arg,ENST00000339885,;NAALADL1,missense_variant,p.Gly277Arg,ENST00000355369,;NAALADL1,missense_variant,p.Gly277Arg,ENST00000340252,;NAALADL1,missense_variant,p.Gly277Arg,ENST00000356632,;NAALADL1,missense_variant,p.Gly236Arg,ENST00000355721,;RN7SL114P,upstream_gene_variant,,ENST00000582042,;NAALADL1,non_coding_transcript_exon_variant,,ENST00000529274,;NAALADL1,non_coding_transcript_exon_variant,,ENST00000528977,;	uc001ocn.2	c.829G>A	857/2699	2	2			c.829G>A						11	SNP	c.(829-831)GGA>AGA	18	18				0	Broad	N-acetylated alpha-linked acidic			64821985		0.597	ENSG00000168060	9947	g.chr11:64821985C>T	proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity							22.384598	KEEP	7	5	-1	19	34	7	5	-1	27.621759	19	34	0.189655	1	0	0	0	0	1	0	0	0	--	--		0	T			NAALADL1_uc010rnw.1_5'UTR	133	GBM-14-0781-TP	p.G277R	C	GGGGGAAATCCGGAGACATTG	NM_005468	NP_005459	64821985	Q9UQQ1	NALDL_HUMAN	0			5	845	-	T	T			Missense_Mutation	277			NAALADase.|Extracellular (Potential).			
NAALADL1	0	broad.mit.edu	GRCh37	11	64825878	64825878	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-14-1823-01	TCGA-14-1823-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358658.3:c.116A>T	p.Asp39Val	p.D39V	ENST00000358658	NM_005468.2	39	gAc/gTc	0			1			A	D/V	uc001ocn.2	protein_coding	YES	CCDS31604.1			116/2223										0	c.(115-117)GAC>GTC			hmmpanther:PTHR10404,hmmpanther:PTHR10404:SF40	N-acetylated alpha-linked acidic				ENSP00000351484		18-Jan									COSM3398037	18-Jan	.		ENST00000358658	Transcript			proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	ENSG00000168060	g.chr11:64825878T>A	23536			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=NALDL_HUMAN&rb=1&re=153&var=D39V	NA	getma.org/?cm=var&var=hg19,11,64825878,T,A&fts=all	D39V	--	--	1																																		NAALADL1_uc010rnw.1_5'UTR	1	1		probably_damaging(0.92)	p.D39V	NM_005468	NP_005459		deleterious(0.01)	1	NALDL_HUMAN	NAALADL1	HGNC	Q9UQQ1	NALDL_HUMAN			E9PRC7_HUMAN,E9PLR8_HUMAN,E9PKW7_HUMAN,E9PKG8_HUMAN,E9PJQ1_HUMAN,E9PIU1_HUMAN,E9PII9_HUMAN		1	132	-			UPI000013E761	39			Extracellular (Potential).		SNV	NAALADL1,missense_variant,p.Asp39Val,ENST00000358658,NM_005468.2;NAALADL1,missense_variant,p.Asp39Val,ENST00000339885,;NAALADL1,missense_variant,p.Asp39Val,ENST00000355369,;NAALADL1,missense_variant,p.Asp39Val,ENST00000340252,;NAALADL1,missense_variant,p.Asp39Val,ENST00000356632,;NAALADL1,missense_variant,p.Asp39Val,ENST00000355721,;NAALADL1,non_coding_transcript_exon_variant,,ENST00000529274,;NAALADL1,non_coding_transcript_exon_variant,,ENST00000528977,;	uc001ocn.2	c.116A>T	144/2699	2	2			c.116A>T						11	SNP	c.(115-117)GAC>GTC	48	48				0	Broad	N-acetylated alpha-linked acidic			64825878		0.637	ENSG00000168060	9947	g.chr11:64825878T>A	proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity							3.571679	KEEP	4	4	-1	40	29	4	4	-1	15.528833	40	29	0.09589	1	0	0	0	0	1	0	0	0	--	--		0	A			NAALADL1_uc010rnw.1_5'UTR	147	GBM-14-1823-TP	p.D39V	T	CAGGTCCAGGTCCTGGGGGGC	NM_005468	NP_005459	64825878	Q9UQQ1	NALDL_HUMAN	0			1	132	-	A	A			Missense_Mutation	39			Extracellular (Potential).			
NAALADL1	0	broad.mit.edu	GRCh37	11	64820765	64820765	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358658.3:c.1123G>A	p.Gly375Arg	p.G375R	ENST00000358658	NM_005468.2	375	Ggg/Agg	0			1			T	G/R	uc001ocn.2	protein_coding	YES	CCDS31604.1			1123/2223										0	c.(1123-1125)GGG>AGG			Gene3D:3.40.630.10,Pfam_domain:PF04389,hmmpanther:PTHR10404,hmmpanther:PTHR10404:SF40,Superfamily_domains:SSF53187	N-acetylated alpha-linked acidic				ENSP00000351484		18-Aug	8.60E-06							0.000125	rs749576338,COSM3398034	18-Aug	.		ENST00000358658	Transcript			proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	ENSG00000168060	g.chr11:64820765C>T	23536			MODERATE		3.915	high	getma.org/?cm=msa&ty=f&p=NALDL_HUMAN&rb=361&re=557&var=G375R	getma.org/pdb.php?prot=NALDL_HUMAN&from=361&to=557&var=G375R	getma.org/?cm=var&var=hg19,11,64820765,C,T&fts=all	G375R	--	--	1																																		NAALADL1_uc010rnw.1_5'UTR	0,1	1		probably_damaging(0.996)	p.G375R	NM_005468	NP_005459		deleterious(0)	0,1	NALDL_HUMAN	NAALADL1	HGNC	Q9UQQ1	NALDL_HUMAN			E9PRC7_HUMAN,E9PLR8_HUMAN,E9PKW7_HUMAN,E9PKG8_HUMAN,E9PJQ1_HUMAN,E9PIU1_HUMAN,E9PII9_HUMAN		8	1139	-			UPI000013E761	375			NAALADase.|Extracellular (Potential).		SNV	NAALADL1,missense_variant,p.Gly375Arg,ENST00000358658,NM_005468.2;NAALADL1,missense_variant,p.Gly375Arg,ENST00000339885,;NAALADL1,missense_variant,p.Gly375Arg,ENST00000355369,;NAALADL1,missense_variant,p.Gly426Arg,ENST00000340252,;NAALADL1,missense_variant,p.Gly340Arg,ENST00000356632,;NAALADL1,missense_variant,p.Gly334Arg,ENST00000355721,;NAALADL1,upstream_gene_variant,,ENST00000528884,;NAALADL1,upstream_gene_variant,,ENST00000526799,;NAALADL1,upstream_gene_variant,,ENST00000530995,;NAALADL1,upstream_gene_variant,,ENST00000533340,;RN7SL114P,upstream_gene_variant,,ENST00000582042,;NAALADL1,non_coding_transcript_exon_variant,,ENST00000529274,;NAALADL1,non_coding_transcript_exon_variant,,ENST00000528977,;NAALADL1,upstream_gene_variant,,ENST00000524445,;NAALADL1,upstream_gene_variant,,ENST00000532432,;	uc001ocn.2	c.1123G>A	1151/2699	2	2			c.1123G>A						11	SNP	c.(1123-1125)GGG>AGG	47	47				0	Broad	N-acetylated alpha-linked acidic			64820765		0.672	ENSG00000168060	9947	g.chr11:64820765C>T	proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity							6.346962	KEEP	2	0	-1	4	3	2	0	-1	6.800846	4	3	0.25	1	0	0	0	0	1	0	0	0	--	--		0	T			NAALADL1_uc010rnw.1_5'UTR	229	GBM-32-1977-TP	p.G375R	C	TCCACAGCCCCGTGCACCCAG	NM_005468	NP_005459	64820765	Q9UQQ1	NALDL_HUMAN	0			8	1139	-	T	T			Missense_Mutation	375			NAALADase.|Extracellular (Potential).			
NAALADL2	254827	broad.mit.edu	GRCh37	3	174951943	174951943	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000454872.1:c.768C>G	p.Ser256Arg	p.S256R	ENST00000454872	NM_207015.2	256	agC/agG	0			1			G	S/R	uc003fit.2	protein_coding	YES	CCDS46960.1			768/2388									pancreas(1)	1	c.(766-768)AGC>AGG			hmmpanther:PTHR10404:SF32,hmmpanther:PTHR10404,Gene3D:3.50.30.30,Superfamily_domains:SSF52025	N-acetylated alpha-linked acidic dipeptidase 2				ENSP00000404705		14-Mar									COSM3408446	14-Mar	.		ENST00000454872	Transcript			proteolysis	integral to membrane	peptidase activity	ENSG00000177694	g.chr3:174951943C>G	23219			MODERATE		2.005	medium	getma.org/?cm=msa&ty=f&p=NADL2_HUMAN&rb=201&re=400&var=S256R	getma.org/pdb.php?prot=NADL2_HUMAN&from=201&to=400&var=S256R	getma.org/?cm=var&var=hg19,3,174951943,C,G&fts=all	S256R	--	--	1																																		NAALADL2_uc003fiu.1_Missense_Mutation_p.S249R|NAALADL2_uc010hwy.1_Missense_Mutation_p.S78R	1	1		possibly_damaging(0.453)	p.S256R	NM_207015	NP_996898		deleterious(0.03)	1	NADL2_HUMAN	NAALADL2	HGNC	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	C9JQ86_HUMAN		3	855	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	UPI0000161608	256			Extracellular (Potential).		SNV	NAALADL2,missense_variant,p.Ser256Arg,ENST00000454872,NM_207015.2;NAALADL2-AS2,downstream_gene_variant,,ENST00000424690,;NAALADL2,non_coding_transcript_exon_variant,,ENST00000473253,;NAALADL2,non_coding_transcript_exon_variant,,ENST00000489299,;NAALADL2,non_coding_transcript_exon_variant,,ENST00000485853,;	uc003fit.2	c.768C>G	896/4953	3	3			c.768C>G						3	SNP	c.(766-768)AGC>AGG	1	1			pancreas(1)	1	Broad	N-acetylated alpha-linked acidic dipeptidase 2			174951943		0.463	ENSG00000177694	9948	g.chr3:174951943C>G	proteolysis	integral to membrane	peptidase activity							113.100225	KEEP	20	17	-1	39	48	20	17	-1	116.060397	39	48	0.324074	1	0	0	0	0	1	0	0	0	--	--		0	G			NAALADL2_uc003fiu.1_Missense_Mutation_p.S249R|NAALADL2_uc010hwy.1_Missense_Mutation_p.S78R	65	GBM-06-0743-TP	p.S256R	C	AAGATAGCAGCCAAGACCTGC	NM_207015	NP_996898	174951943	Q58DX5	NADL2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	3	855	+	G	G	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	Missense_Mutation	256			Extracellular (Potential).			
NAALADL2	254827	broad.mit.edu	GRCh37	3	174951839	174951839	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5412-01	TCGA-06-5412-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000454872.1:c.664G>A	p.Asp222Asn	p.D222N	ENST00000454872	NM_207015.2	222	Gat/Aat	0			1			A	D/N	uc003fit.2	protein_coding	YES	CCDS46960.1			664/2388									pancreas(1)	1	c.(664-666)GAT>AAT			hmmpanther:PTHR10404:SF32,hmmpanther:PTHR10404,Superfamily_domains:SSF52025	N-acetylated alpha-linked acidic dipeptidase 2				ENSP00000404705		14-Mar									COSM3205443	14-Mar	.		ENST00000454872	Transcript			proteolysis	integral to membrane	peptidase activity	ENSG00000177694	g.chr3:174951839G>A	23219			MODERATE		-0.35	neutral	getma.org/?cm=msa&ty=f&p=NADL2_HUMAN&rb=201&re=400&var=D222N	getma.org/pdb.php?prot=NADL2_HUMAN&from=201&to=400&var=D222N	getma.org/?cm=var&var=hg19,3,174951839,G,A&fts=all	D222N	--	--	1																																		NAALADL2_uc003fiu.1_Missense_Mutation_p.D215N|NAALADL2_uc010hwy.1_Missense_Mutation_p.D44N	1	1		benign(0.001)	p.D222N	NM_207015	NP_996898		tolerated(0.38)	1	NADL2_HUMAN	NAALADL2	HGNC	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	C9JQ86_HUMAN		3	751	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	UPI0000161608	222			Extracellular (Potential).		SNV	NAALADL2,missense_variant,p.Asp222Asn,ENST00000454872,NM_207015.2;NAALADL2-AS2,downstream_gene_variant,,ENST00000424690,;NAALADL2,non_coding_transcript_exon_variant,,ENST00000473253,;NAALADL2,non_coding_transcript_exon_variant,,ENST00000489299,;NAALADL2,non_coding_transcript_exon_variant,,ENST00000485853,;	uc003fit.2	c.664G>A	792/4953	2	2			c.664G>A						3	SNP	c.(664-666)GAT>AAT	33	33			pancreas(1)	1	Broad	N-acetylated alpha-linked acidic dipeptidase 2			174951839		0.443	ENSG00000177694	9948	g.chr3:174951839G>A	proteolysis	integral to membrane	peptidase activity							10.81869	KEEP	4	8	-1	45	34	4	8	-1	21.202676	45	34	0.121622	1	0	0	0	0	1	0	0	0	--	--		0	A			NAALADL2_uc003fiu.1_Missense_Mutation_p.D215N|NAALADL2_uc010hwy.1_Missense_Mutation_p.D44N	95	GBM-06-5412-TP	p.D222N	G	TGTGCTGCTTGATCTGCCAGG	NM_207015	NP_996898	174951839	Q58DX5	NADL2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	3	751	+	A	A	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	Missense_Mutation	222			Extracellular (Potential).			
NAALADL2	0	broad.mit.edu	GRCh37	3	174814645	174814645	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01	TCGA-19-2631-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000454872.1:c.109G>A	p.Asp37Asn	p.D37N	ENST00000454872	NM_207015.2	37	Gac/Aac	0			1			A	D/N	uc003fit.2	protein_coding	YES	CCDS46960.1			109/2388									pancreas(1)	1	c.(109-111)GAC>AAC			hmmpanther:PTHR10404:SF32,hmmpanther:PTHR10404	N-acetylated alpha-linked acidic dipeptidase 2				ENSP00000404705		14-Feb									COSM3408445	14-Feb	.		ENST00000454872	Transcript			proteolysis	integral to membrane	peptidase activity	ENSG00000177694	g.chr3:174814645G>A	23219			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=NADL2_HUMAN&rb=1&re=200&var=D37N	NA	getma.org/?cm=var&var=hg19,3,174814645,G,A&fts=all	D37N	--	--	1																																		NAALADL2_uc003fiu.1_Missense_Mutation_p.D30N	1	1		benign(0.376)	p.D37N	NM_207015	NP_996898		deleterious(0)	1	NADL2_HUMAN	NAALADL2	HGNC	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	C9JQ86_HUMAN		2	196	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	UPI0000161608	37			Cytoplasmic (Potential).		SNV	NAALADL2,missense_variant,p.Asp37Asn,ENST00000454872,NM_207015.2;NAALADL2,missense_variant,p.Asp20Asn,ENST00000434257,;NAALADL2-AS3,intron_variant,,ENST00000453180,;NAALADL2,non_coding_transcript_exon_variant,,ENST00000473253,;NAALADL2,non_coding_transcript_exon_variant,,ENST00000485853,;NAALADL2-AS3,intron_variant,,ENST00000436929,;	uc003fit.2	c.109G>A	237/4953	1	1			c.109G>A						3	SNP	c.(109-111)GAC>AAC	64	64			pancreas(1)	1	Broad	N-acetylated alpha-linked acidic dipeptidase 2			174814645		0.408	ENSG00000177694	9948	g.chr3:174814645G>A	proteolysis	integral to membrane	peptidase activity							54.666383	KEEP	4	14	-1	12	15	4	14	-1	54.999604	12	15	0.404762	1	0	0	0	0	1	0	0	0	--	--		0	A			NAALADL2_uc003fiu.1_Missense_Mutation_p.D30N	167	GBM-19-2631-TP	p.D37N	G	ACAGTACTTAGACAATGATGA	NM_207015	NP_996898	174814645	Q58DX5	NADL2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	2	196	+	A	A	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	Missense_Mutation	37			Cytoplasmic (Potential).			
NACA	4666		GRCh37	12	57108166	57108166	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000550952.1:c.2344A>G	p.Ser782Gly	p.S782G	ENST00000550952		782	Agt/Ggt	0																																																																																																																																																																																																																																												
NACC2	0	broad.mit.edu	GRCh37	9	138903727	138903727	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01	TCGA-76-4926-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000277554.2:c.1399C>T	p.Arg467Cys	p.R467C	ENST00000277554	NM_144653.4	467	Cgc/Tgc	0			1			A	R/C	uc004cgw.2	protein_coding		CCDS6993.1			1399/1764										0	c.(1399-1401)CGC>TGC			hmmpanther:PTHR23228:SF7,hmmpanther:PTHR23228	BTB (POZ) domain containing 14A				ENSP00000277554		6-Jun									COSM1461029	6-Jun	.		ENST00000277554	Transcript			negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization	nuclear body		ENSG00000148411	g.chr9:138903727G>A	23846			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=NACC2_HUMAN&rb=449&re=480&var=R467C	NA	getma.org/?cm=var&var=hg19,9,138903727,G,A&fts=all	R467C	--	--	1																																		NACC2_uc010nbh.2_Missense_Mutation_p.R106C|uc004cgv.3_5'Flank	1			probably_damaging(0.927)	p.R467C	NM_144653	NP_653254		deleterious(0)	1	NACC2_HUMAN	NACC2	HGNC	Q96BF6	NACC2_HUMAN					6	1555	-			UPI0000073EEB	467					SNV	NACC2,missense_variant,p.Arg467Cys,ENST00000371753,;NACC2,missense_variant,p.Arg467Cys,ENST00000277554,NM_144653.4;NACC2,downstream_gene_variant,,ENST00000467669,;	uc004cgw.2	c.1399C>T	1555/2077	1	1			c.1399C>T						9	SNP	c.(1399-1401)CGC>TGC	64	64				0	Broad	BTB (POZ) domain containing 14A			138903727		0.697	ENSG00000148411	9954	g.chr9:138903727G>A	negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization	nuclear body								7.322731	KEEP	3	1	-1	3	1	3	1	-1	7.35404	3	1	0.428571	1	0	0	0	0	1	0	0	0	--	--		0	A			NACC2_uc010nbh.2_Missense_Mutation_p.R106C|uc004cgv.3_5'Flank	266	GBM-76-4926-TP	p.R467C	G	ATGACCGTGCGGTACATCTCC	NM_144653	NP_653254	138903727	Q96BF6	NACC2_HUMAN	0			6	1555	-	A	A			Missense_Mutation	467						
NADK2	133686	broad.mit.edu	GRCh37	5	36197710	36197710	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0188-01	TCGA-06-0188-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381937.4:c.1123T>A	p.Phe375Ile	p.F375I	ENST00000381937	NM_001085411.1	375	Ttc/Atc	0			1			T	F/I	uc003jkf.3	protein_coding	YES	CCDS47197.1			1123/1329										0	c.(1123-1125)TTC>ATC			hmmpanther:PTHR13158:SF3,hmmpanther:PTHR13158,Gene3D:2.60.200.30,PIRSF_domain:PIRSF017565	hypothetical protein LOC133686 isoform 1				ENSP00000371362		12-Nov									COSM2150567,COSM2150566	12-Nov	.		ENST00000381937	Transcript					NAD+ kinase activity	ENSG00000152620	g.chr5:36197710A>T	26404			MODERATE		2.47	medium	getma.org/?cm=msa&ty=f&p=NAKD1_HUMAN&rb=201&re=400&var=F375I	NA	getma.org/?cm=var&var=hg19,5,36197710,A,T&fts=all	F375I	--	--	1																																		C5orf33_uc003jke.3_RNA|C5orf33_uc010iux.2_Missense_Mutation_p.F180I|C5orf33_uc003jkg.3_Missense_Mutation_p.F212I|C5orf33_uc011cov.1_Missense_Mutation_p.F234I	1,1	1		benign(0.344)	p.F375I	NM_001085411	NP_001078880		deleterious(0)	1,1	NAKD2_HUMAN	NADK2	HGNC	Q4G0N4	NAKD1_HUMAN	Epithelial(62;0.0254)|all cancers(62;0.0805)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		Q49AR0_HUMAN,D6RHI4_HUMAN		11	1123	-	all_lung(31;5.63e-05)		UPI000150640C	375					SNV	NADK2,missense_variant,p.Phe212Ile,ENST00000397338,NM_001287340.1;NADK2,missense_variant,p.Phe212Ile,ENST00000282512,NM_153013.3;NADK2,missense_variant,p.Phe375Ile,ENST00000381937,NM_001085411.1;NADK2,missense_variant,p.Phe234Ile,ENST00000506945,;NADK2,missense_variant,p.Phe343Ile,ENST00000514504,;NADK2,missense_variant,p.Phe70Ile,ENST00000502355,;NADK2,non_coding_transcript_exon_variant,,ENST00000511613,;NADK2,non_coding_transcript_exon_variant,,ENST00000509225,;NADK2,non_coding_transcript_exon_variant,,ENST00000404560,;	uc003jkf.3	c.1123T>A	1123/2243	2	2			c.1123T>A						5	SNP	c.(1123-1125)TTC>ATC	47	47				0	Broad	hypothetical protein LOC133686 isoform 1			36197710		0.353	ENSG00000152620	2246	g.chr5:36197710A>T			NAD+ kinase activity							143.226907	KEEP	30	26	-1	41	31	30	26	-1	143.826446	41	31	0.423729	1	0	0	0	0	1	0	0	0	--	--		0	T			C5orf33_uc003jke.3_RNA|C5orf33_uc010iux.2_Missense_Mutation_p.F180I|C5orf33_uc003jkg.3_Missense_Mutation_p.F212I|C5orf33_uc011cov.1_Missense_Mutation_p.F234I	41	GBM-06-0188-TP	p.F375I	A	CGAATACTGAAAAGTATTTTT	NM_001085411	NP_001078880	36197710	Q4G0N4	NAKD1_HUMAN	0	Epithelial(62;0.0254)|all cancers(62;0.0805)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		11	1123	-	T	T	all_lung(31;5.63e-05)		Missense_Mutation	375						
NADK2	133686		GRCh37	5	36195277	36195279	+	inframe_deletion	In_Frame_Del	DEL	TCT	TCT	-			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000381937.4:c.1296_1298del	p.Glu432del	p.E432del	ENST00000381937	NM_001085411.1	432	gaAGAt/gat	0																																																																																																																																																																																																																																												
NADSYN1	55191	broad.mit.edu	GRCh37	11	71191823	71191823	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0184-01	TCGA-06-0184-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319023.2:c.896C>T	p.Pro299Leu	p.P299L	ENST00000319023	NM_018161.4	299	cCc/cTc	0			1			T	P/L	uc001oqn.2	protein_coding	YES	CCDS8201.1			896/2121									ovary(2)	2	c.(895-897)CCC>CTC			PROSITE_profiles:PS50263,hmmpanther:PTHR23090:SF9,hmmpanther:PTHR23090,PIRSF_domain:PIRSF006630	NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)			ENSP00000326424		21-Nov									COSM2150460	21-Nov	.		ENST00000319023	Transcript			NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	ENSG00000172890	g.chr11:71191823C>T	29832			MODERATE		2.595	medium	getma.org/?cm=msa&ty=f&p=NADE_HUMAN&rb=5&re=299&var=P299L	NA	getma.org/?cm=var&var=hg19,11,71191823,C,T&fts=all	P299L	--	--	1																																		NADSYN1_uc001oqo.2_Missense_Mutation_p.P39L|NADSYN1_uc001oqp.2_5'UTR	1	1		benign(0.077)	p.P299L	NM_018161	NP_060631		deleterious(0.01)	1	NADE_HUMAN	NADSYN1	HGNC	Q6IA69	NADE_HUMAN			E9PNF5_HUMAN,E9PND0_HUMAN		11	1022	+			UPI00001404C2	299			CN hydrolase.		SNV	NADSYN1,missense_variant,p.Pro299Leu,ENST00000319023,NM_018161.4;NADSYN1,missense_variant,p.Pro39Leu,ENST00000539574,;NADSYN1,5_prime_UTR_variant,,ENST00000530055,;NADSYN1,5_prime_UTR_variant,,ENST00000529840,;NADSYN1,non_coding_transcript_exon_variant,,ENST00000526039,;NADSYN1,synonymous_variant,p.=,ENST00000527852,;NADSYN1,3_prime_UTR_variant,,ENST00000525200,;NADSYN1,non_coding_transcript_exon_variant,,ENST00000527227,;NADSYN1,upstream_gene_variant,,ENST00000531236,;NADSYN1,downstream_gene_variant,,ENST00000528509,;NADSYN1,downstream_gene_variant,,ENST00000530534,;NADSYN1,upstream_gene_variant,,ENST00000524450,;	uc001oqn.2	c.896C>T	1084/2773	1	1			c.896C>T						11	SNP	c.(895-897)CCC>CTC	6	6			ovary(2)	2	Broad	NAD synthetase 1		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	71191823		0.587	ENSG00000172890	9956	g.chr11:71191823C>T	NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	Ovarian(79;763 1781 6490 50276)			Ovarian(79;763 1781 6490 50276)			86.777276	KEEP	19	18	-1	40	42	19	18	-1	88.143797	40	42	0.358974	1	0	0	0	0	1	0	0	0	--	--		0	T			NADSYN1_uc001oqo.2_Missense_Mutation_p.P39L|NADSYN1_uc001oqp.2_5'UTR	39	GBM-06-0184-TP	p.P299L	C	AGCCCCTACCCCAGAGTGAAG	NM_018161	NP_060631	71191823	Q6IA69	NADE_HUMAN	0			11	1022	+	T	T			Missense_Mutation	299			CN hydrolase.			
NAF1	0	broad.mit.edu	GRCh37	4	164050120	164050120	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01	TCGA-76-4934-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274054.2:c.1414C>T	p.Pro472Ser	p.P472S	ENST00000274054	NM_138386.2	472	Cct/Tct	0			1			A	P/S	uc003iqj.2	protein_coding	YES	CCDS3803.1			1414/1485									ovary(2)	2	c.(1414-1416)CCT>TCT			Low_complexity_(Seg):seg,hmmpanther:PTHR31991	nuclear assembly factor 1 homolog isoform a				ENSP00000274054		8-Aug									COSM3409144	8-Aug	.		ENST00000274054	Transcript			rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	ENSG00000145414	g.chr4:164050120G>A	25126			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=NAF1_HUMAN&rb=332&re=494&var=P472S	NA	getma.org/?cm=var&var=hg19,4,164050120,G,A&fts=all	P472S	--	--	1																																		NAF1_uc010iqw.1_Intron	1	1		probably_damaging(0.996)	p.P472S	NM_138386	NP_612395		deleterious_low_confidence(0.01)	1	NAF1_HUMAN	NAF1	HGNC	Q96HR8	NAF1_HUMAN					8	1608	-	all_hematologic(180;0.166)	Prostate(90;0.109)	UPI000013D9EB	472			Pro-rich.		SNV	NAF1,missense_variant,p.Pro472Ser,ENST00000274054,NM_138386.2;NAF1,intron_variant,,ENST00000422287,NM_001128931.1;NAF1,intron_variant,,ENST00000509434,;NAF1,downstream_gene_variant,,ENST00000509884,;	uc003iqj.2	c.1414C>T	1608/1907	1	1			c.1414C>T						4	SNP	c.(1414-1416)CCT>TCT	50	50			ovary(2)	2	Broad	nuclear assembly factor 1 homolog isoform a			164050120		0.254	ENSG00000145414	9958	g.chr4:164050120G>A	rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding							48.923478	KEEP	5	10	-1	7	9	5	10	-1	48.930518	7	9	0.483871	1	0	0	0	0	1	0	0	0	--	--		0	A			NAF1_uc010iqw.1_Intron	272	GBM-76-4934-TP	p.P472S	G	ggagggggagggggtgggggt	NM_138386	NP_612395	164050120	Q96HR8	NAF1_HUMAN	0			8	1608	-	A	A	all_hematologic(180;0.166)	Prostate(90;0.109)	Missense_Mutation	472			Pro-rich.			
NAF1	92345		GRCh37	4	164050096	164050096	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000274054.2:c.1438C>G	p.Pro480Ala	p.P480A	ENST00000274054	NM_138386.2	480	Cca/Gca	0																																																																																																																																																																																																																																												
NAGA	4668	broad.mit.edu	GRCh37	22	42458930	42458930	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-06-0124-01	TCGA-06-0124-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396398.3:c.858G>C	p.Leu286=	p.L286=	ENST00000396398	NM_000262.2	286	ctG/ctC	0			1			G	L	uc003bbx.2	protein_coding	YES	CCDS14030.1			858/1236									central_nervous_system(1)	1	c.(856-858)CTG>CTC			Gene3D:3.20.20.70,hmmpanther:PTHR11452,hmmpanther:PTHR11452:SF25,Superfamily_domains:SSF51445	alpha-N-acetylgalactosaminidase precursor				ENSP00000379680		9-Jul									COSM2149283	9-Jul	.		ENST00000396398	Transcript	1		glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity	ENSG00000198951	g.chr22:42458930C>G	7631			LOW								--	--	1																																		NAGA_uc003bby.2_Silent_p.L286L|NAGA_uc003bbw.3_Silent_p.L286L	1	1			p.L286L	NM_000262	NP_000253			1	NAGAB_HUMAN	NAGA	HGNC	P17050	NAGAB_HUMAN					8	995	-			UPI000012FD03	286					SNV	NAGA,synonymous_variant,p.=,ENST00000396398,NM_000262.2;NAGA,synonymous_variant,p.=,ENST00000402937,;NAGA,synonymous_variant,p.=,ENST00000403363,;WBP2NL,downstream_gene_variant,,ENST00000436265,;	uc003bbx.2	c.858G>C	1391/3694	3	3			c.858G>C						22	SNP	c.(856-858)CTG>CTC	16	16			central_nervous_system(1)	1	Broad	alpha-N-acetylgalactosaminidase precursor			42458930		0.557	ENSG00000198951	9959	g.chr22:42458930C>G	glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity							96.584924	KEEP	23	16	-1	65	33	23	16	-1	102.822086	65	33	0.269231	1	0	0	0	0	0	0	1	0	--	--		0	G			NAGA_uc003bby.2_Silent_p.L286L|NAGA_uc003bbw.3_Silent_p.L286L	11	GBM-06-0124-TP	p.L286L	C	AGATGGTACGCAGGTCTGTGG	NM_000262	NP_000253	42458930	P17050	NAGAB_HUMAN	0			8	995	-	G	G			Silent	286						
NAGA	4668	broad.mit.edu	GRCh37	22	42458918	42458918	+	synonymous_variant	Silent	SNP	G	G	A	rs144984228		TCGA-06-0174-01	TCGA-06-0174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396398.3:c.870C>T	p.Ser290=	p.S290=	ENST00000396398	NM_000262.2	290	tcC/tcT	0	A:0.0002		1			A	S	uc003bbx.2	protein_coding	YES	CCDS14030.1			870/1236									central_nervous_system(1)	1	c.(868-870)TCC>TCT			Gene3D:3.20.20.70,hmmpanther:PTHR11452,hmmpanther:PTHR11452:SF25,Superfamily_domains:SSF51445	alpha-N-acetylgalactosaminidase precursor			A:0.0001	ENSP00000379680		9-Jul	3.29E-05	0.000192				1.50E-05		6.06E-05	rs144984228,COSM3405696	9-Jul	.		ENST00000396398	Transcript	1		glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity	ENSG00000198951	g.chr22:42458918G>A	7631			LOW								--	--	1																																		NAGA_uc003bby.2_Silent_p.S290S|NAGA_uc003bbw.3_Silent_p.S290S	0,1	1			p.S290S	NM_000262	NP_000253			0,1	NAGAB_HUMAN	NAGA	HGNC	P17050	NAGAB_HUMAN					8	1007	-			UPI000012FD03	290					SNV	NAGA,synonymous_variant,p.=,ENST00000396398,NM_000262.2;NAGA,synonymous_variant,p.=,ENST00000402937,;NAGA,synonymous_variant,p.=,ENST00000403363,;WBP2NL,downstream_gene_variant,,ENST00000436265,;	uc003bbx.2	c.870C>T	1403/3694	1	1			c.870C>T						22	SNP	c.(868-870)TCC>TCT	64	64			central_nervous_system(1)	1	Broad	alpha-N-acetylgalactosaminidase precursor			42458918		0.557	ENSG00000198951	9959	g.chr22:42458918G>A	glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity							184.654218	KEEP	37	31	-1	53	67	37	31	-1	188.350995	53	67	0.344828	1	0	0	0	0	0	0	1	0	--	--		0	A			NAGA_uc003bby.2_Silent_p.S290S|NAGA_uc003bbw.3_Silent_p.S290S	37	GBM-06-0174-TP	p.S290S	G	TGTTCTGGGCGGAGATGGTAC	NM_000262	NP_000253	42458918	P17050	NAGAB_HUMAN	0			8	1007	-	A	A			Silent	290						
NAGA	0	broad.mit.edu	GRCh37	22	42456400	42456400	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-12-0618-01	TCGA-12-0618-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396398.3:c.1119A>C	p.Ser373=	p.S373=	ENST00000396398	NM_000262.2	373	tcA/tcC	0			1			G	S	uc003bbx.2	protein_coding	YES	CCDS14030.1			1119/1236									central_nervous_system(1)	1	c.(1117-1119)TCA>TCC			Gene3D:2.60.40.1180,hmmpanther:PTHR11452,hmmpanther:PTHR11452:SF25,Superfamily_domains:SSF51011	alpha-N-acetylgalactosaminidase precursor				ENSP00000379680		9-Sep									COSM3748174	9-Sep	.		ENST00000396398	Transcript	1		glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity	ENSG00000198951	g.chr22:42456400T>G	7631			LOW								--	--	1																																		NAGA_uc003bby.2_Silent_p.S373S|NAGA_uc003bbw.3_Silent_p.S373S	1	1			p.S373S	NM_000262	NP_000253			1	NAGAB_HUMAN	NAGA	HGNC	P17050	NAGAB_HUMAN					10	1256	-			UPI000012FD03	373					SNV	NAGA,synonymous_variant,p.=,ENST00000396398,NM_000262.2;NAGA,synonymous_variant,p.=,ENST00000402937,;NAGA,synonymous_variant,p.=,ENST00000403363,;WBP2NL,downstream_gene_variant,,ENST00000436265,;	uc003bbx.2	c.1119A>C	1652/3694	3	3			c.1119A>C						22	SNP	c.(1117-1119)TCA>TCC	53	53			central_nervous_system(1)	1	Broad	alpha-N-acetylgalactosaminidase precursor			42456400		0.557	ENSG00000198951	9959	g.chr22:42456400T>G	glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity							-23.719367	KEEP	12	10	-1	165	152	12	10	-1	36.274624	165	152	0.052817	1	0	0	0	0	0	0	1	0	--	--		0	G			NAGA_uc003bby.2_Silent_p.S373S|NAGA_uc003bbw.3_Silent_p.S373S	119	GBM-12-0618-TP	p.S373S	T	TGATGTCACCTGAGTAGACGT	NM_000262	NP_000253	42456400	P17050	NAGAB_HUMAN	0			10	1256	-	G	G			Silent	373						
NALCN	259232	broad.mit.edu	GRCh37	13	102047697	102047697	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0129-01	TCGA-06-0129-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251127.6:c.128G>A	p.Arg43His	p.R43H	ENST00000251127	NM_052867.2	43	cGc/cAc	0			1			T	R/H	uc001vox.1	protein_coding	YES	CCDS9498.1			128/5217									ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	c.(127-129)CGC>CAC			Gene3D:1.20.120.350,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF176,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix	voltage gated channel like 1				ENSP00000251127		Mar-44									COSM3399218,COSM3399219	Mar-44	.		ENST00000251127	Transcript	1			integral to membrane	sodium channel activity|voltage-gated ion channel activity	ENSG00000102452	g.chr13:102047697C>T	19082			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=NALCN_HUMAN&rb=1&re=72&var=R43H	NA	getma.org/?cm=var&var=hg19,13,102047697,C,T&fts=all	R43H	--	--	1																																		NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.R43H|NALCN_uc001vpa.2_Missense_Mutation_p.R43H	1,1	1		probably_damaging(0.985)	p.R43H	NM_052867	NP_443099		deleterious(0)	1,1	NALCN_HUMAN	NALCN	HGNC	Q8IZF0	NALCN_HUMAN			B3KX53_HUMAN,B3KMK1_HUMAN		3	317	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		UPI000004EBBD	43			Helical; Name=S1 of repeat I; (Potential).		SNV	NALCN,missense_variant,p.Arg43His,ENST00000251127,NM_052867.2;NALCN,missense_variant,p.Arg43His,ENST00000376196,;NALCN,missense_variant,p.Arg43His,ENST00000376200,;NALCN,non_coding_transcript_exon_variant,,ENST00000470333,;NALCN,non_coding_transcript_exon_variant,,ENST00000497170,;	uc001vox.1	c.128G>A	210/6816	2	2			c.128G>A						13	SNP	c.(127-129)CGC>CAC	35	35			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	Broad	voltage gated channel like 1			102047697		0.433	ENSG00000102452	9965	g.chr13:102047697C>T		integral to membrane	sodium channel activity|voltage-gated ion channel activity							17.33898	KEEP	10	6	-1	32	54	10	6	-1	29.799841	32	54	0.129032	1	0	0	0	0	1	0	0	0	--	--		0	T			NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.R43H|NALCN_uc001vpa.2_Missense_Mutation_p.R43H	15	GBM-06-0129-TP	p.R43H	C	GGCACAGATGCGCAGCAAAGA	NM_052867	NP_443099	102047697	Q8IZF0	NALCN_HUMAN	0			3	317	-	T	T	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		Missense_Mutation	43			Helical; Name=S1 of repeat I; (Potential).			
NALCN	0	broad.mit.edu	GRCh37	13	101707744	101707744	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251127.6:c.5120C>T	p.Thr1707Ile	p.T1707I	ENST00000251127	NM_052867.2	1707	aCt/aTt	0			1			A	T/I	uc001vox.1	protein_coding	YES	CCDS9498.1			5120/5217									ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	c.(5119-5121)ACT>ATT			hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF176	voltage gated channel like 1				ENSP00000251127		44/44									COSM3399216	44/44	.		ENST00000251127	Transcript	1			integral to membrane	sodium channel activity|voltage-gated ion channel activity	ENSG00000102452	g.chr13:101707744G>A	19082			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=NALCN_HUMAN&rb=1647&re=1738&var=T1707I	NA	getma.org/?cm=var&var=hg19,13,101707744,G,A&fts=all	T1707I	--	--	1																																			1	1		benign(0.006)	p.T1707I	NM_052867	NP_443099		tolerated_low_confidence(0.26)	1	NALCN_HUMAN	NALCN	HGNC	Q8IZF0	NALCN_HUMAN			B3KX53_HUMAN,B3KMK1_HUMAN		44	5309	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		UPI000004EBBD	1707			Cytoplasmic (Potential).		SNV	NALCN,missense_variant,p.Thr1707Ile,ENST00000251127,NM_052867.2;NALCN-AS1,non_coding_transcript_exon_variant,,ENST00000457843,;	uc001vox.1	c.5120C>T	5202/6816	2	2			c.5120C>T						13	SNP	c.(5119-5121)ACT>ATT	22	22			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	Broad	voltage gated channel like 1			101707744		0.507	ENSG00000102452	9965	g.chr13:101707744G>A		integral to membrane	sodium channel activity|voltage-gated ion channel activity							437.079583	KEEP	78	70	-1	105	112	78	70	-1	439.028714	105	112	0.418879	1	0	0	0	0	1	0	0	0	--	--		0	A				131	GBM-12-5301-TP	p.T1707I	G	AGCCGCGTCAGTCATGGGGTT	NM_052867	NP_443099	101707744	Q8IZF0	NALCN_HUMAN	0			44	5309	-	A	A	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		Missense_Mutation	1707			Cytoplasmic (Potential).			
NALCN	0	broad.mit.edu	GRCh37	13	101742235	101742235	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5207-01	TCGA-28-5207-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251127.6:c.3352G>A	p.Val1118Met	p.V1118M	ENST00000251127	NM_052867.2	1118	Gtg/Atg	0			1			T	V/M	uc001vox.1	protein_coding	YES	CCDS9498.1			3352/5217									ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	c.(3352-3354)GTG>ATG			Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF176,Superfamily_domains:SSF81324	voltage gated channel like 1				ENSP00000251127		29/44									COSM2157351	29/44	.		ENST00000251127	Transcript	1			integral to membrane	sodium channel activity|voltage-gated ion channel activity	ENSG00000102452	g.chr13:101742235C>T	19082			MODERATE		0.3	neutral	getma.org/?cm=msa&ty=f&p=NALCN_HUMAN&rb=920&re=1155&var=V1118M	NA	getma.org/?cm=var&var=hg19,13,101742235,C,T&fts=all	V1118M	--	--	1																																			1	1		benign(0.396)	p.V1118M	NM_052867	NP_443099		tolerated(0.08)	1	NALCN_HUMAN	NALCN	HGNC	Q8IZF0	NALCN_HUMAN			B3KX53_HUMAN,B3KMK1_HUMAN		29	3541	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		UPI000004EBBD	1118			Extracellular (Potential).		SNV	NALCN,missense_variant,p.Val1118Met,ENST00000251127,NM_052867.2;	uc001vox.1	c.3352G>A	3434/6816	2	2			c.3352G>A						13	SNP	c.(3352-3354)GTG>ATG	24	24			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	Broad	voltage gated channel like 1			101742235		0.453	ENSG00000102452	9965	g.chr13:101742235C>T		integral to membrane	sodium channel activity|voltage-gated ion channel activity							652.17597	KEEP	124	125	-1	202	212	124	125	-1	659.237709	202	212	0.382504	1	0	0	0	0	1	0	0	0	--	--		0	T				216	GBM-28-5207-TP	p.V1118M	C	CTCACTTCCACCCAGCCTTTC	NM_052867	NP_443099	101742235	Q8IZF0	NALCN_HUMAN	0			29	3541	-	T	T	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		Missense_Mutation	1118			Extracellular (Potential).			
NALCN	0	broad.mit.edu	GRCh37	13	101728226	101728226	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01	TCGA-76-4934-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251127.6:c.3952C>T	p.His1318Tyr	p.H1318Y	ENST00000251127	NM_052867.2	1318	Cat/Tat	0			1			A	H/Y	uc001vox.1	protein_coding	YES	CCDS9498.1			3952/5217									ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	c.(3952-3954)CAT>TAT			Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF176,Superfamily_domains:SSF81324	voltage gated channel like 1				ENSP00000251127		35/44									COSM3399217	35/44	.		ENST00000251127	Transcript	1			integral to membrane	sodium channel activity|voltage-gated ion channel activity	ENSG00000102452	g.chr13:101728226G>A	19082			MODERATE		2.3	medium	getma.org/?cm=msa&ty=f&p=NALCN_HUMAN&rb=1243&re=1446&var=H1318Y	getma.org/pdb.php?prot=NALCN_HUMAN&from=1243&to=1446&var=H1318Y	getma.org/?cm=var&var=hg19,13,101728226,G,A&fts=all	H1318Y	--	--	1																																			1	1		possibly_damaging(0.823)	p.H1318Y	NM_052867	NP_443099		tolerated(0.07)	1	NALCN_HUMAN	NALCN	HGNC	Q8IZF0	NALCN_HUMAN			B3KX53_HUMAN,B3KMK1_HUMAN		35	4141	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		UPI000004EBBD	1318			Cytoplasmic (Potential).		SNV	NALCN,missense_variant,p.His1318Tyr,ENST00000251127,NM_052867.2;	uc001vox.1	c.3952C>T	4034/6816	1	1			c.3952C>T						13	SNP	c.(3952-3954)CAT>TAT	56	56			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	Broad	voltage gated channel like 1			101728226		0.323	ENSG00000102452	9965	g.chr13:101728226G>A		integral to membrane	sodium channel activity|voltage-gated ion channel activity							374.71684	KEEP	76	62	-1	33	50	76	62	-1	377.480547	33	50	0.626263	1	0	0	0	0	1	0	0	0	--	--		0	A				272	GBM-76-4934-TP	p.H1318Y	G	GTACTTACATGTTTTCCACAG	NM_052867	NP_443099	101728226	Q8IZF0	NALCN_HUMAN	0			35	4141	-	A	A	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		Missense_Mutation	1318			Cytoplasmic (Potential).			
NAMPT	10135		GRCh37	7	105909693	105909693	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000222553.3:c.513A>G	p.Ile171Met	p.I171M	ENST00000222553	NM_005746.2	171	atA/atG	0																																																																																																																																																																																																																																												
NANP	0	broad.mit.edu	GRCh37	20	25597030	25597030	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-4929-01	TCGA-76-4929-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304788.3:c.278C>G	p.Ala93Gly	p.A93G	ENST00000304788	NM_152667.2	93	gCt/gGt	0			1			C	A/G	uc002wuy.2	protein_coding	YES	CCDS13173.1			278/747										0	c.(277-279)GCT>GGT			hmmpanther:PTHR12725:SF4,hmmpanther:PTHR12725,Pfam_domain:PF13419,TIGRFAM_domain:TIGR02253,Superfamily_domains:SSF56784	N-acetylneuraminic acid phosphatase				ENSP00000302441		2-Feb									COSM3404988	2-Feb	.		ENST00000304788	Transcript			N-acetylneuraminate biosynthetic process		N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity	ENSG00000170191	g.chr20:25597030G>C	16140			MODERATE		1.53	low	getma.org/?cm=msa&ty=f&p=NANP_HUMAN&rb=9&re=209&var=A93G	getma.org/pdb.php?prot=NANP_HUMAN&from=9&to=209&var=A93G	getma.org/?cm=var&var=hg19,20,25597030,G,C&fts=all	A93G	--	--	1																																			1	1		possibly_damaging(0.64)	p.A93G	NM_152667	NP_689880		deleterious(0.03)	1	NANP_HUMAN	NANP	HGNC	Q8TBE9	NANP_HUMAN					2	342	-			UPI0000070FB9	93					SNV	NANP,missense_variant,p.Ala93Gly,ENST00000304788,NM_152667.2;	uc002wuy.2	c.278C>G	505/3964	4	4			c.278C>G						20	SNP	c.(277-279)GCT>GGT	43	43				0	Broad	N-acetylneuraminic acid phosphatase			25597030		0.403	ENSG00000170191	9970	g.chr20:25597030G>C	N-acetylneuraminate biosynthetic process		N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity							120.663928	KEEP	21	16	-1	42	36	21	16	-1	123.320831	42	36	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	C				269	GBM-76-4929-TP	p.A93G	G	ACATTCTTCAGCCAATTTTCT	NM_152667	NP_689880	25597030	Q8TBE9	NANP_HUMAN	0			2	342	-	C	C			Missense_Mutation	93						
NAP1L1	0	broad.mit.edu	GRCh37	12	76447581	76447581	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-27-2523-01	TCGA-27-2523-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261182.8:c.739T>G	p.Phe247Val	p.F247V	ENST00000261182	NM_004537.4	247	Ttt/Gtt	0			1			C	F/V	uc001sxw.2	protein_coding	YES	CCDS9013.1			739/1176									ovary(1)|skin(1)	2	c.(739-741)TTT>GTT			Superfamily_domains:SSF143113,Pfam_domain:PF00956,hmmpanther:PTHR11875:SF34,hmmpanther:PTHR11875,Low_complexity_(Seg):seg	nucleosome assembly protein 1-like 1				ENSP00000261182		15-Sep									COSM3399110	15-Sep	.		ENST00000261182	Transcript			DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding	ENSG00000187109	g.chr12:76447581A>C	7637			MODERATE		2.945	medium	getma.org/?cm=msa&ty=f&p=NP1L1_HUMAN&rb=75&re=346&var=F247V	getma.org/pdb.php?prot=NP1L1_HUMAN&from=75&to=346&var=F247V	getma.org/?cm=var&var=hg19,12,76447581,A,C&fts=all	F247V	--	--	1																																		NAP1L1_uc001sxv.2_Missense_Mutation_p.F205V|NAP1L1_uc001sxz.2_Missense_Mutation_p.F178V|NAP1L1_uc001sxx.2_Missense_Mutation_p.F247V|NAP1L1_uc001sxy.2_Missense_Mutation_p.F184V|NAP1L1_uc010sty.1_Missense_Mutation_p.F204V|NAP1L1_uc010stz.1_Missense_Mutation_p.F64V|NAP1L1_uc010sua.1_Missense_Mutation_p.F247V|NAP1L1_uc001syb.2_Missense_Mutation_p.F247V|NAP1L1_uc001sya.2_Missense_Mutation_p.F205V|NAP1L1_uc001syc.2_Missense_Mutation_p.F258V	1	1		probably_damaging(0.969)	p.F247V	NM_139207	NP_631946		deleterious(0)	1	NP1L1_HUMAN	NAP1L1	HGNC	P55209	NP1L1_HUMAN			H0YIV4_HUMAN,F8W118_HUMAN,F8VY35_HUMAN,F8VRJ2_HUMAN,B7Z4K9_HUMAN		9	1151	-		Colorectal(145;0.09)	UPI0000052A55	247					SNV	NAP1L1,missense_variant,p.Phe247Val,ENST00000261182,NM_004537.4,NM_139207.2;NAP1L1,missense_variant,p.Phe64Val,ENST00000547993,;NAP1L1,missense_variant,p.Phe179Val,ENST00000431879,;NAP1L1,missense_variant,p.Phe241Val,ENST00000552056,;NAP1L1,missense_variant,p.Phe184Val,ENST00000547773,;NAP1L1,missense_variant,p.Phe247Val,ENST00000393263,;NAP1L1,missense_variant,p.Phe247Val,ENST00000549596,;NAP1L1,missense_variant,p.Phe247Val,ENST00000535020,;NAP1L1,missense_variant,p.Phe205Val,ENST00000542344,;NAP1L1,missense_variant,p.Phe64Val,ENST00000544816,;NAP1L1,missense_variant,p.Phe258Val,ENST00000552342,;NAP1L1,missense_variant,p.Phe206Val,ENST00000548044,;NAP1L1,missense_variant,p.Phe247Val,ENST00000551992,;NAP1L1,missense_variant,p.Phe220Val,ENST00000550934,;NAP1L1,missense_variant,p.Phe206Val,ENST00000548273,;NAP1L1,downstream_gene_variant,,ENST00000551600,;NAP1L1,downstream_gene_variant,,ENST00000547704,;NAP1L1,downstream_gene_variant,,ENST00000551524,;NAP1L1,intron_variant,,ENST00000552147,;NAP1L1,intron_variant,,ENST00000547529,;NAP1L1,upstream_gene_variant,,ENST00000552013,;NAP1L1,upstream_gene_variant,,ENST00000547969,;RP11-290L1.4,upstream_gene_variant,,ENST00000552477,;	uc001sxw.2	c.739T>G	1226/5202	4	4			c.739T>G						12	SNP	c.(739-741)TTT>GTT	43	43			ovary(1)|skin(1)	2	Broad	nucleosome assembly protein 1-like 1			76447581		0.333	ENSG00000187109	9972	g.chr12:76447581A>C	DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding							210.115076	KEEP	36	30	-1	53	28	36	30	-1	210.395319	53	28	0.450382	1	0	0	0	0	1	0	0	0	--	--		0	C			NAP1L1_uc001sxv.2_Missense_Mutation_p.F205V|NAP1L1_uc001sxz.2_Missense_Mutation_p.F178V|NAP1L1_uc001sxx.2_Missense_Mutation_p.F247V|NAP1L1_uc001sxy.2_Missense_Mutation_p.F184V|NAP1L1_uc010sty.1_Missense_Mutation_p.F204V|NAP1L1_uc010stz.1_Missense_Mutation_p.F64V|NAP1L1_uc010sua.1_Missense_Mutation_p.F247V|NAP1L1_uc001syb.2_Missense_Mutation_p.F247V|NAP1L1_uc001sya.2_Missense_Mutation_p.F205V|NAP1L1_uc001syc.2_Missense_Mutation_p.F258V	201	GBM-27-2523-TP	p.F247V	A	GGTCCATCAAAAGAAAAGGGA	NM_139207	NP_631946	76447581	P55209	NP1L1_HUMAN	0			9	1151	-	C	C		Colorectal(145;0.09)	Missense_Mutation	247						
NAP1L2	4674	broad.mit.edu	GRCh37	X	72433664	72433666	+	inframe_deletion	In_Frame_Del	DEL	TCC	TCC	-			TCGA-06-0169-01	TCGA-06-0169-01	TCC	TCC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373517.3:c.663_665del	p.Glu221del	p.E221del	ENST00000373517	NM_021963.3	221	gaGGAc/gac	0		-:0.0272	1	-:0.0173		-	ED/D	uc004ebi.2	protein_coding	YES	CCDS14423.1			663-665/1383									lung(1)	1	c.(661-666)GAGGAC>GAC			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11875,hmmpanther:PTHR11875:SF36,Pfam_domain:PF00956,Superfamily_domains:SSF143113	nucleosome assembly protein 1-like 2		-:0.0069		ENSP00000362616	-:0.0089	1-Jan									rs369450592,COSM1125153	1-Jan	.		ENST00000373517	Transcript		-:0.0252	nucleosome assembly	chromatin assembly complex		ENSG00000186462	g.chrX:72433664_72433666delTCC	7638			MODERATE								--	--	1																																		NAP1L2_uc011mqj.1_In_Frame_Del_p.E79del	0,1	1			p.E221del	NM_021963	NP_068798	-:0.0317		0,1	NP1L2_HUMAN	NAP1L2	HGNC	Q9ULW6	NP1L2_HUMAN			B4E161_HUMAN		1	1019_1021	-	Renal(35;0.156)		UPI00001303E8	221			Glu-rich (acidic).		deletion	NAP1L2,inframe_deletion,p.Glu221del,ENST00000373517,NM_021963.3;NAP1L2,inframe_deletion,p.Glu79del,ENST00000536638,;	uc004ebi.2	c.663_665delGGA	1019-1021/2550	5	5			c.663_665delGGA						23	DEL	c.(661-666)GAGGAC>GAC	34	34			lung(1)	1	Broad	nucleosome assembly protein 1-like 2			72433666		0.33	ENSG00000186462	9973	g.chrX:72433664_72433666delTCC	nucleosome assembly	chromatin assembly complex																					0.08	1	1	0	1	0	0	0	0	0	--	--		0	-			NAP1L2_uc011mqj.1_In_Frame_Del_p.E79del	34	GBM-06-0169-TP	p.E221del	TCC	CTCAATGTCGtcctcctcctcct	NM_021963	NP_068798	72433664	Q9ULW6	NP1L2_HUMAN	0			1	1019_1021	-	-	-	Renal(35;0.156)		In_Frame_Del	221			Glu-rich (acidic).			
NAP1L2	4674	broad.mit.edu	GRCh37	X	72433530	72433530	+	stop_gained	Nonsense_Mutation	SNP	T	T	A			TCGA-06-2558-01	TCGA-06-2558-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373517.3:c.799A>T	p.Lys267Ter	p.K267*	ENST00000373517	NM_021963.3	267	Aag/Tag	0			1			A	K/*	uc004ebi.2	protein_coding	YES	CCDS14423.1			799/1383									lung(1)	1	c.(799-801)AAG>TAG			hmmpanther:PTHR11875,hmmpanther:PTHR11875:SF36,Pfam_domain:PF00956,Superfamily_domains:SSF143113	nucleosome assembly protein 1-like 2				ENSP00000362616		1-Jan									COSM2152606	1-Jan	.		ENST00000373517	Transcript			nucleosome assembly	chromatin assembly complex		ENSG00000186462	g.chrX:72433530T>A	7638			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,X,72433530,T,A&fts=all	K267*	--	--	1																																		NAP1L2_uc011mqj.1_Nonsense_Mutation_p.K125*	1	1			p.K267*	NM_021963	NP_068798			1	NP1L2_HUMAN	NAP1L2	HGNC	Q9ULW6	NP1L2_HUMAN			B4E161_HUMAN		1	1155	-	Renal(35;0.156)		UPI00001303E8	267					SNV	NAP1L2,stop_gained,p.Lys267Ter,ENST00000373517,NM_021963.3;NAP1L2,stop_gained,p.Lys125Ter,ENST00000536638,;	uc004ebi.2	c.799A>T	1155/2550	5	1			c.799A>T						23	SNP	c.(799-801)AAG>TAG	62	62			lung(1)	1	Broad	nucleosome assembly protein 1-like 2			72433530		0.368	ENSG00000186462	9973	g.chrX:72433530T>A	nucleosome assembly	chromatin assembly complex								109.143514	KEEP	18	26	-1	51	53	18	26	-1	114.528117	51	53	0.296552	1	0	0	0	0	0	1	0	0	--	--		0	A			NAP1L2_uc011mqj.1_Nonsense_Mutation_p.K125*	82	GBM-06-2558-TP	p.K267*	T	GTCAGGAGCTTCAGAATAGGC	NM_021963	NP_068798	72433530	Q9ULW6	NP1L2_HUMAN	0			1	1155	-	A	A	Renal(35;0.156)		Nonsense_Mutation	267						
NAP1L5	266812	broad.mit.edu	GRCh37	4	89618484	89618486	+	inframe_deletion	In_Frame_Del	DEL	TCC	TCC	-			TCGA-06-0879-01	TCGA-06-0879-01	TCC	TCC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323061.5:c.420_422del	p.Glu143del	p.E143del	ENST00000323061	NM_153757.2	140	gaGGAa/gaa	0		-:0.0008	1	-:0.0058		-	EE/E	uc003hrx.2	protein_coding	YES	CCDS3632.1			420-422/549									skin(1)	1	c.(418-423)GAGGAA>GAA			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00956,hmmpanther:PTHR11875,hmmpanther:PTHR11875:SF35,Low_complexity_(Seg):seg,Superfamily_domains:SSF143113	nucleosome assembly protein 1-like 5		-:0		ENSP00000320488	-:0	1-Jan	0.00112	0.00156	0.00131	0.000349	0.000304	0.000938	0.00333	0.00155	rs147461195,COSM1162100	1-Jan	common_variant		ENST00000323061	Transcript		-:0.0010	nucleosome assembly	nucleus	protein binding	ENSG00000177432	g.chr4:89618484_89618486delTCC	19968			MODERATE								--	--	1																																		HERC3_uc003hrw.1_Intron|HERC3_uc011cdn.1_Intron|HERC3_uc011cdo.1_Intron	0,1	1			p.140_141EE>E	NM_153757	NP_715638	-:0		0,1	NP1L5_HUMAN	NAP1L5	HGNC	Q96NT1	NP1L5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000181)			1	538_540	-			UPI000004A03B	140_141			Glu-rich.		deletion	NAP1L5,inframe_deletion,p.Glu143del,ENST00000323061,NM_153757.2;HERC3,intron_variant,,ENST00000402738,NM_014606.2,NM_001271602.1;HERC3,intron_variant,,ENST00000264345,;HERC3,intron_variant,,ENST00000543130,;	uc003hrx.2	c.420_422delGGA	901-903/2321	5	5			c.420_422delGGA						4	DEL	c.(418-423)GAGGAA>GAA	16	16			skin(1)	1	Broad	nucleosome assembly protein 1-like 5			89618486		0.369	ENSG00000177432	9976	g.chr4:89618484_89618486delTCC	nucleosome assembly	nucleus	protein binding																				0.03	1	1	0	1	0	0	0	0	0	--	--		0	-			HERC3_uc003hrw.1_Intron|HERC3_uc011cdn.1_Intron|HERC3_uc011cdo.1_Intron	75	GBM-06-0879-TP	p.140_141EE>E	TCC	gtactcctcttcctcctcctcct	NM_153757	NP_715638	89618484	Q96NT1	NP1L5_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;0.000181)	1	538_540	-	-	-			In_Frame_Del	140_141			Glu-rich.			
NAP1L5	266812		GRCh37	4	89618484	89618486	+	inframe_deletion	In_Frame_Del	DEL	TCC	TCC	-			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000323061.5:c.420_422del	p.Glu143del	p.E143del	ENST00000323061	NM_153757.2	140	gaGGAa/gaa	0																																																																																																																																																																																																																																												
NAPB	63908	broad.mit.edu	GRCh37	20	23383673	23383673	+	stop_gained	Nonsense_Mutation	SNP	A	A	T			TCGA-06-2557-01	TCGA-06-2557-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377026.4:c.135T>A	p.Tyr45Ter	p.Y45*	ENST00000377026	NM_022080.2	45	taT/taA	0			1			T	Y/*	uc002wta.2	protein_coding	YES	CCDS13152.1			135/897									ovary(1)	1	c.(133-135)TAT>TAA			hmmpanther:PTHR13768:SF12,hmmpanther:PTHR13768,Pfam_domain:PF14938,Gene3D:1.25.40.10,Superfamily_domains:SSF48452,Prints_domain:PR00448	N-ethylmaleimide-sensitive factor attachment				ENSP00000366225		11-Feb									COSM2152572	11-Feb	.		ENST00000377026	Transcript			intracellular protein transport|vesicle-mediated transport	membrane		ENSG00000125814	g.chr20:23383673A>T	15751			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,20,23383673,A,T&fts=all	Y45*	--	--	1																																		NAPB_uc002wtc.2_5'UTR|NAPB_uc002wtb.2_Nonsense_Mutation_p.Y45*|NAPB_uc002wtd.3_RNA|NAPB_uc010zst.1_Nonsense_Mutation_p.Y45*	1	1			p.Y45*	NM_022080	NP_071363			1	SNAB_HUMAN	NAPB	HGNC	Q9H115	SNAB_HUMAN			B4DGP9_HUMAN		2	252	-	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)		UPI0000004164	45					SNV	NAPB,stop_gained,p.Tyr45Ter,ENST00000377026,NM_022080.2,NM_001283018.1;NAPB,stop_gained,p.Tyr45Ter,ENST00000432543,NM_001283020.1;NAPB,5_prime_UTR_variant,,ENST00000398425,NM_001283026.1;NAPB,non_coding_transcript_exon_variant,,ENST00000472855,;NAPB,non_coding_transcript_exon_variant,,ENST00000468128,;NAPB,non_coding_transcript_exon_variant,,ENST00000487502,;	uc002wta.2	c.135T>A	221/3837	5	1			c.135T>A						20	SNP	c.(133-135)TAT>TAA	9	9			ovary(1)	1	Broad	N-ethylmaleimide-sensitive factor attachment			23383673		0.338	ENSG00000125814	9978	g.chr20:23383673A>T	intracellular protein transport|vesicle-mediated transport	membrane								86.289009	KEEP	20	20	-1	37	41	20	20	-1	90.224722	37	41	0.295238	1	0	0	0	0	0	1	0	0	--	--		0	T			NAPB_uc002wtc.2_5'UTR|NAPB_uc002wtb.2_Nonsense_Mutation_p.Y45*|NAPB_uc002wtd.3_RNA|NAPB_uc010zst.1_Nonsense_Mutation_p.Y45*	81	GBM-06-2557-TP	p.Y45*	A	CAGCTCTGGTATACATTTCAC	NM_022080	NP_071363	23383673	Q9H115	SNAB_HUMAN	0			2	252	-	T	T	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)		Nonsense_Mutation	45						
NAT10	55226		GRCh37	11	34129864	34129864	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000257829.3:c.92A>C	p.Asp31Ala	p.D31A	ENST00000257829	NM_024662.2	31	gAt/gCt	0																																																																																																																																																																																																																																												
NAT16	375607	broad.mit.edu	GRCh37	7	100816793	100816793	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0875-01	TCGA-06-0875-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300303.2:c.321G>A	p.Leu107=	p.L107=	ENST00000300303	NM_198571.2	107	ctG/ctA	0			1			T	L	uc003uxy.1	protein_coding	YES	CCDS5713.1			321/1110									ovary(1)	1	c.(319-321)CTG>CTA			Gene3D:3.40.630.30,PROSITE_profiles:PS51186,hmmpanther:PTHR23091,hmmpanther:PTHR23091:SF189,Superfamily_domains:SSF55729	hypothetical protein LOC375607				ENSP00000300303		4-Mar									COSM2151997	4-Mar	.		ENST00000300303	Transcript					N-acetyltransferase activity	ENSG00000167011	g.chr7:100816793C>T	22030			LOW								--	--	1																																		C7orf52_uc003uxz.1_Silent_p.L107L	1	1			p.L107L	NM_198571	NP_940973			1	NAT16_HUMAN	NAT16	HGNC	Q8N8M0	CG052_HUMAN			C9JB11_HUMAN		3	560	-	Lung NSC(181;0.168)|all_lung(186;0.215)		UPI000013E649	107			N-acetyltransferase.		SNV	NAT16,synonymous_variant,p.=,ENST00000300303,NM_198571.2;NAT16,synonymous_variant,p.=,ENST00000455377,;NAT16,synonymous_variant,p.=,ENST00000444446,;NAT16,downstream_gene_variant,,ENST00000443096,;	uc003uxy.1	c.321G>A	560/2935	2	2			c.321G>A						7	SNP	c.(319-321)CTG>CTA	18	18			ovary(1)	1	Broad	hypothetical protein LOC375607			100816793		0.736	ENSG00000167011	2352	g.chr7:100816793C>T			N-acetyltransferase activity							19.914883	KEEP	4	14	-1	25	34	4	14	-1	24.726042	25	34	0.188679	1	0	0	0	0	0	0	1	0	--	--		0	T			C7orf52_uc003uxz.1_Silent_p.L107L	71	GBM-06-0875-TP	p.L107L	C	TCACCGACTCCAGCGCGATCT	NM_198571	NP_940973	100816793	Q8N8M0	CG052_HUMAN	0			3	560	-	T	T	Lung NSC(181;0.168)|all_lung(186;0.215)		Silent	107			N-acetyltransferase.			
NAV1	0	broad.mit.edu	GRCh37	1	201782286	201782286	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5219-01	TCGA-28-5219-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367296.4:c.5240C>T	p.Ser1747Leu	p.S1747L	ENST00000367296	NM_020443.4	1747	tCg/tTg	0			1			T	S/L	uc001gwu.2	protein_coding	YES	CCDS1414.2			5240/5634									central_nervous_system(3)|ovary(1)	4	c.(5230-5232)TCG>TTG			hmmpanther:PTHR12784,hmmpanther:PTHR12784:SF3	neuron navigator 1				ENSP00000356265		28/30									COSM3400207	28/30	.		ENST00000367296	Transcript			cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	ENSG00000134369	g.chr1:201782286C>T	15989			MODERATE		2.07	medium	getma.org/?cm=msa&ty=f&p=NAV1_HUMAN&rb=1438&re=1875&var=S1747L	NA	getma.org/?cm=var&var=hg19,1,201782286,C,T&fts=all	S1747L	--	--	1																																		NAV1_uc001gwx.2_Missense_Mutation_p.S1353L	1	1		probably_damaging(0.981)	p.S1744L	NM_020443	NP_065176		deleterious(0)	1	NAV1_HUMAN	NAV1	HGNC	Q8NEY1	NAV1_HUMAN					27	5578	+			UPI00004562D4	1747					SNV	NAV1,missense_variant,p.Ser1747Leu,ENST00000367296,NM_020443.4;NAV1,missense_variant,p.Ser1744Leu,ENST00000295624,;NAV1,missense_variant,p.Ser1739Leu,ENST00000367297,;NAV1,missense_variant,p.Ser1687Leu,ENST00000367300,;NAV1,missense_variant,p.Ser1353Leu,ENST00000367295,NM_001167738.1;NAV1,missense_variant,p.Ser1700Leu,ENST00000367302,;MIR1231,downstream_gene_variant,,ENST00000408101,;IPO9-AS1,intron_variant,,ENST00000413035,;IPO9-AS1,downstream_gene_variant,,ENST00000421449,;	uc001gwu.2	c.5231C>T	5660/13091	1	1			c.5231C>T						1	SNP	c.(5230-5232)TCG>TTG	1	1			central_nervous_system(3)|ovary(1)	4	Broad	neuron navigator 1			201782286		0.507	ENSG00000134369	9998	g.chr1:201782286C>T	cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding							172.187271	KEEP	34	36	-1	51	52	34	36	-1	173.682957	51	52	0.393333	1	0	0	0	0	1	0	0	0	--	--		0	T			NAV1_uc001gwx.2_Missense_Mutation_p.S1353L	225	GBM-28-5219-TP	p.S1744L	C	TTCTTTCTGTCGTGTCCCATT	NM_020443	NP_065176	201782286	Q8NEY1	NAV1_HUMAN	0			27	5578	+	T	T			Missense_Mutation	1747						
NAV2	89797	broad.mit.edu	GRCh37	11	20099593	20099593	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01	TCGA-06-0241-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396087.3:c.5290G>A	p.Ala1764Thr	p.A1764T	ENST00000396087	NM_001244963.1	1764	Gca/Aca	0			1			A	A/T	uc010rdm.1	protein_coding	YES	CCDS58126.1			5290/7467									skin(4)|ovary(1)|pancreas(1)	6	c.(5290-5292)GCA>ACA			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12784:SF6,hmmpanther:PTHR12784	neuron navigator 2 isoform 2				ENSP00000379396		26/41	2.47E-05					4.55E-05			rs769042839,COSM2112009	26/41	.		ENST00000396087	Transcript				nucleus	ATP binding|helicase activity	ENSG00000166833	g.chr11:20099593G>A	15997			MODERATE		0.605	neutral	getma.org/?cm=msa&ty=f&p=NAV2_HUMAN&rb=731&re=2028&var=A1764T	NA	getma.org/?cm=var&var=hg19,11,20099593,G,A&fts=all	A1764T	--	--	1																																		NAV2_uc001mpp.2_Missense_Mutation_p.A1644T|NAV2_uc001mpr.3_Missense_Mutation_p.A1708T|NAV2_uc001mpt.2_Missense_Mutation_p.A757T|NAV2_uc009yhx.2_Missense_Mutation_p.A772T|NAV2_uc009yhy.1_Missense_Mutation_p.A670T|NAV2_uc009yhz.2_Missense_Mutation_p.A353T|NAV2_uc001mpu.2_Missense_Mutation_p.A146T	0,1	1		probably_damaging(0.996)	p.A1764T	NM_145117	NP_660093		tolerated(0.63)	0,1	NAV2_HUMAN	NAV2	HGNC	Q8IVL1	NAV2_HUMAN					26	5651	+			UPI00001E0580	1764			Potential.		SNV	NAV2,missense_variant,p.Ala1708Thr,ENST00000396085,NM_182964.5;NAV2,missense_variant,p.Ala1708Thr,ENST00000349880,NM_145117.4;NAV2,missense_variant,p.Ala1644Thr,ENST00000360655,NM_001111018.1;NAV2,missense_variant,p.Ala1695Thr,ENST00000540292,;NAV2,missense_variant,p.Ala1693Thr,ENST00000527559,;NAV2,missense_variant,p.Ala1764Thr,ENST00000396087,NM_001244963.1;NAV2,missense_variant,p.Ala772Thr,ENST00000311043,;NAV2,missense_variant,p.Ala772Thr,ENST00000533917,NM_001111019.2;NAV2,missense_variant,p.Ala757Thr,ENST00000525322,;	uc010rdm.1	c.5290G>A	5389/7882	1	1			c.5290G>A						11	SNP	c.(5290-5292)GCA>ACA	64	64			skin(4)|ovary(1)|pancreas(1)	6	Broad	neuron navigator 2 isoform 2			20099593		0.433	ENSG00000166833	9999	g.chr11:20099593G>A		nucleus	ATP binding|helicase activity							54.821849	KEEP	17	4	-1	12	9	17	4	-1	54.845869	12	9	0.527778	1	0	0	0	0	1	0	0	0	--	--		0	A			NAV2_uc001mpp.2_Missense_Mutation_p.A1644T|NAV2_uc001mpr.3_Missense_Mutation_p.A1708T|NAV2_uc001mpt.2_Missense_Mutation_p.A757T|NAV2_uc009yhx.2_Missense_Mutation_p.A772T|NAV2_uc009yhy.1_Missense_Mutation_p.A670T|NAV2_uc009yhz.2_Missense_Mutation_p.A353T|NAV2_uc001mpu.2_Missense_Mutation_p.A146T	57	GBM-06-0241-TP	p.A1764T	G	GAAACAGAACGCAGCTGCCCA	NM_145117	NP_660093	20099593	Q8IVL1	NAV2_HUMAN	0			26	5651	+	A	A			Missense_Mutation	1764			Potential.			
NAV2	0	broad.mit.edu	GRCh37	11	19961278	19961278	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-16-0846-01	TCGA-16-0846-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396087.3:c.2174A>G	p.His725Arg	p.H725R	ENST00000396087	NM_001244963.1	725	cAc/cGc	0			1			G	H/R	uc010rdm.1	protein_coding	YES	CCDS58126.1			2174/7467									skin(4)|ovary(1)|pancreas(1)	6	c.(2173-2175)CAC>CGC			hmmpanther:PTHR12784:SF6,hmmpanther:PTHR12784	neuron navigator 2 isoform 2				ENSP00000379396		Sep-41	8.24E-06							6.20E-05	rs768598584,COSM3397609	Sep-41	.		ENST00000396087	Transcript				nucleus	ATP binding|helicase activity	ENSG00000166833	g.chr11:19961278A>G	15997			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=NAV2_HUMAN&rb=193&re=729&var=H725R	NA	getma.org/?cm=var&var=hg19,11,19961278,A,G&fts=all	H725R	--	--	1																																		NAV2_uc001mpp.2_Missense_Mutation_p.H638R|NAV2_uc001mpr.3_Missense_Mutation_p.H702R	0,1	1		benign(0.105)	p.H725R	NM_145117	NP_660093		tolerated(0.69)	0,1	NAV2_HUMAN	NAV2	HGNC	Q8IVL1	NAV2_HUMAN					9	2535	+			UPI00001E0580	725					SNV	NAV2,missense_variant,p.His702Arg,ENST00000396085,NM_182964.5;NAV2,missense_variant,p.His702Arg,ENST00000349880,NM_145117.4;NAV2,missense_variant,p.His638Arg,ENST00000360655,NM_001111018.1;NAV2,missense_variant,p.His656Arg,ENST00000540292,;NAV2,missense_variant,p.His654Arg,ENST00000527559,;NAV2,missense_variant,p.His725Arg,ENST00000396087,NM_001244963.1;	uc010rdm.1	c.2174A>G	2273/7882	3	3			c.2174A>G						11	SNP	c.(2173-2175)CAC>CGC	51	51			skin(4)|ovary(1)|pancreas(1)	6	Broad	neuron navigator 2 isoform 2			19961278		0.532	ENSG00000166833	9999	g.chr11:19961278A>G		nucleus	ATP binding|helicase activity							16.505503	KEEP	4	5	-1	28	19	4	5	-1	19.434818	28	19	0.2	1	0	0	0	0	1	0	0	0	--	--		0	G			NAV2_uc001mpp.2_Missense_Mutation_p.H638R|NAV2_uc001mpr.3_Missense_Mutation_p.H702R	155	GBM-16-0846-TP	p.H725R	A	GAGCCCAGCCACTTCACCAAG	NM_145117	NP_660093	19961278	Q8IVL1	NAV2_HUMAN	0			9	2535	+	G	G			Missense_Mutation	725						
NAV2	0	broad.mit.edu	GRCh37	11	20065530	20065530	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01	TCGA-16-1045-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396087.3:c.2980G>A	p.Asp994Asn	p.D994N	ENST00000396087	NM_001244963.1	994	Gat/Aat	0			1			A	D/N	uc010rdm.1	protein_coding	YES	CCDS58126.1			2980/7467									skin(4)|ovary(1)|pancreas(1)	6	c.(2980-2982)GAT>AAT			hmmpanther:PTHR12784:SF6,hmmpanther:PTHR12784	neuron navigator 2 isoform 2				ENSP00000379396		14/41									COSM687770	14/41	.		ENST00000396087	Transcript				nucleus	ATP binding|helicase activity	ENSG00000166833	g.chr11:20065530G>A	15997			MODERATE		2.14	medium	getma.org/?cm=msa&ty=f&p=NAV2_HUMAN&rb=731&re=2028&var=D994N	NA	getma.org/?cm=var&var=hg19,11,20065530,G,A&fts=all	D994N	--	--	1																																		NAV2_uc001mpp.2_Missense_Mutation_p.D907N|NAV2_uc001mpr.3_Missense_Mutation_p.D971N|NAV2_uc001mpt.2_Missense_Mutation_p.D57N|NAV2_uc009yhx.2_Missense_Mutation_p.D57N|NAV2_uc009yhy.1_5'UTR	1	1		probably_damaging(0.996)	p.D994N	NM_145117	NP_660093		deleterious(0.03)	1	NAV2_HUMAN	NAV2	HGNC	Q8IVL1	NAV2_HUMAN					14	3341	+			UPI00001E0580	994					SNV	NAV2,missense_variant,p.Asp971Asn,ENST00000396085,NM_182964.5;NAV2,missense_variant,p.Asp971Asn,ENST00000349880,NM_145117.4;NAV2,missense_variant,p.Asp907Asn,ENST00000360655,NM_001111018.1;NAV2,missense_variant,p.Asp925Asn,ENST00000540292,;NAV2,missense_variant,p.Asp923Asn,ENST00000527559,;NAV2,missense_variant,p.Asp994Asn,ENST00000396087,NM_001244963.1;NAV2,missense_variant,p.Asp57Asn,ENST00000311043,;NAV2,missense_variant,p.Asp57Asn,ENST00000533917,NM_001111019.2;NAV2,missense_variant,p.Asp57Asn,ENST00000525322,;NAV2,missense_variant,p.Asp57Asn,ENST00000530408,;NAV2-AS2,non_coding_transcript_exon_variant,,ENST00000533767,;NAV2,non_coding_transcript_exon_variant,,ENST00000534299,;NAV2,non_coding_transcript_exon_variant,,ENST00000526675,;	uc010rdm.1	c.2980G>A	3079/7882	2	2			c.2980G>A						11	SNP	c.(2980-2982)GAT>AAT	21	21			skin(4)|ovary(1)|pancreas(1)	6	Broad	neuron navigator 2 isoform 2			20065530		0.507	ENSG00000166833	9999	g.chr11:20065530G>A		nucleus	ATP binding|helicase activity							17.592556	KEEP	10	11	-1	84	86	10	11	-1	43.670371	84	86	0.109827	1	0	0	0	0	1	0	0	0	--	--		0	A			NAV2_uc001mpp.2_Missense_Mutation_p.D907N|NAV2_uc001mpr.3_Missense_Mutation_p.D971N|NAV2_uc001mpt.2_Missense_Mutation_p.D57N|NAV2_uc009yhx.2_Missense_Mutation_p.D57N|NAV2_uc009yhy.1_5'UTR	157	GBM-16-1045-TP	p.D994N	G	TCCACAGACTGATGCTGAGAA	NM_145117	NP_660093	20065530	Q8IVL1	NAV2_HUMAN	0			14	3341	+	A	A			Missense_Mutation	994						
NAV2	0	broad.mit.edu	GRCh37	11	19955730	19955730	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01	TCGA-76-6285-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396087.3:c.2009C>T	p.Thr670Ile	p.T670I	ENST00000396087	NM_001244963.1	670	aCc/aTc	0			1			T	T/I	uc010rdm.1	protein_coding	YES	CCDS58126.1			2009/7467									skin(4)|ovary(1)|pancreas(1)	6	c.(2008-2010)ACC>ATC			Low_complexity_(Seg):seg,hmmpanther:PTHR12784:SF6,hmmpanther:PTHR12784	neuron navigator 2 isoform 2				ENSP00000379396		Aug-41									COSM3397608	Aug-41	.		ENST00000396087	Transcript				nucleus	ATP binding|helicase activity	ENSG00000166833	g.chr11:19955730C>T	15997			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=NAV2_HUMAN&rb=193&re=729&var=T670I	NA	getma.org/?cm=var&var=hg19,11,19955730,C,T&fts=all	T670I	--	--	1																																		NAV2_uc001mpp.2_Missense_Mutation_p.T583I|NAV2_uc001mpr.3_Missense_Mutation_p.T647I	1	1		benign(0.375)	p.T670I	NM_145117	NP_660093		deleterious(0.04)	1	NAV2_HUMAN	NAV2	HGNC	Q8IVL1	NAV2_HUMAN					8	2370	+			UPI00001E0580	670					SNV	NAV2,missense_variant,p.Thr647Ile,ENST00000396085,NM_182964.5;NAV2,missense_variant,p.Thr647Ile,ENST00000349880,NM_145117.4;NAV2,missense_variant,p.Thr583Ile,ENST00000360655,NM_001111018.1;NAV2,missense_variant,p.Thr601Ile,ENST00000540292,;NAV2,missense_variant,p.Thr599Ile,ENST00000527559,;NAV2,missense_variant,p.Thr670Ile,ENST00000396087,NM_001244963.1;NAV2,downstream_gene_variant,,ENST00000528008,;	uc010rdm.1	c.2009C>T	2108/7882	1	1			c.2009C>T						11	SNP	c.(2008-2010)ACC>ATC	5	5			skin(4)|ovary(1)|pancreas(1)	6	Broad	neuron navigator 2 isoform 2			19955730		0.582	ENSG00000166833	9999	g.chr11:19955730C>T		nucleus	ATP binding|helicase activity							95.318912	KEEP	13	22	-1	22	21	13	22	-1	95.620507	22	21	0.430556	1	0	0	0	0	1	0	0	0	--	--		0	T			NAV2_uc001mpp.2_Missense_Mutation_p.T583I|NAV2_uc001mpr.3_Missense_Mutation_p.T647I	280	GBM-76-6285-TP	p.T670I	C	ACCACCCAGACCACAGGAAGC	NM_145117	NP_660093	19955730	Q8IVL1	NAV2_HUMAN	0			8	2370	+	T	T			Missense_Mutation	670						
NAV2	89797		GRCh37	11	20065785	20065785	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000396087.3:c.3235G>A	p.Ala1079Thr	p.A1079T	ENST00000396087	NM_001244963.1	1079	Gcc/Acc	0																																																																																																																																																																																																																																												
NAV3	89795	broad.mit.edu	GRCh37	12	78582438	78582438	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0749-01	TCGA-06-0749-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000536525.2:c.5870A>C	p.Asp1957Ala	p.D1957A	ENST00000536525	NM_014903.4	1957	gAc/gCc	0			1			C	D/A	uc001syp.2	protein_coding		CCDS66432.1			5936/7158									large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17	c.(5935-5937)GAC>GCC			hmmpanther:PTHR12784,hmmpanther:PTHR12784:SF18	neuron navigator 3				ENSP00000381007		33/40									COSM3399124,COSM3399123	33/40	.		ENST00000397909	Transcript				nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	ENSG00000067798	g.chr12:78582438A>C	15998			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=NAV3_HUMAN&rb=1930&re=2047&var=D1979A	NA	getma.org/?cm=var&var=hg19,12,78582438,A,C&fts=all	D1979A	--	--	1				HNSCC(70;0.22)																														NAV3_uc001syo.2_Missense_Mutation_p.D1957A|NAV3_uc010sub.1_Missense_Mutation_p.D1436A|NAV3_uc009zsf.2_Missense_Mutation_p.D788A	1,1			benign(0.371)	p.D1979A	NM_014903	NP_055718		deleterious(0)	1,1	NAV3_HUMAN	NAV3	HGNC	Q8IVL0	NAV3_HUMAN			F8VZV4_HUMAN		33	6109	+			UPI0000E59849	1979					SNV	NAV3,missense_variant,p.Asp1979Ala,ENST00000397909,NM_001024383.1;NAV3,missense_variant,p.Asp1957Ala,ENST00000228327,;NAV3,missense_variant,p.Asp1780Ala,ENST00000266692,;NAV3,missense_variant,p.Asp1957Ala,ENST00000536525,NM_014903.4;NAV3,missense_variant,p.Asp852Ala,ENST00000552895,;NAV3,missense_variant,p.Asp579Ala,ENST00000550788,;NAV3,intron_variant,,ENST00000552300,;NAV3,downstream_gene_variant,,ENST00000548948,;	uc001syp.2	c.5936A>C	6109/9821	3	3			c.5936A>C						12	SNP	c.(5935-5937)GAC>GCC	61	61			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17	Broad	neuron navigator 3			78582438		0.388	ENSG00000067798	10000	g.chr12:78582438A>C		nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			1091			1091	-29.97239	KEEP	3	3	-1	101	75	3	3	-1	9.971485	101	75	0.030303	1	0	0	0	0	1	0	0	0	--	--	HNSCC(70;0.22)	0	C			NAV3_uc001syo.2_Missense_Mutation_p.D1957A|NAV3_uc010sub.1_Missense_Mutation_p.D1436A|NAV3_uc009zsf.2_Missense_Mutation_p.D788A	69	GBM-06-0749-TP	p.D1979A	A	CTGAGCTCTGACTGCATTGCT	NM_014903	NP_055718	78582438	Q8IVL0	NAV3_HUMAN	0			33	6109	+	C	C			Missense_Mutation	1979						
NAV3	89795	broad.mit.edu	GRCh37	12	78415582	78415582	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-6390-01	TCGA-06-6390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000536525.2:c.1963C>G	p.Pro655Ala	p.P655A	ENST00000536525	NM_014903.4	655	Cct/Gct	0			1			G	P/A	uc001syp.2	protein_coding		CCDS66432.1			1963/7158									large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17	c.(1963-1965)CCT>GCT			hmmpanther:PTHR12784,hmmpanther:PTHR12784:SF18	neuron navigator 3				ENSP00000381007		Sep-40										Sep-40	.		ENST00000397909	Transcript				nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	ENSG00000067798	g.chr12:78415582C>G	15998			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=NAV3_HUMAN&rb=585&re=669&var=P655A	NA	getma.org/?cm=var&var=hg19,12,78415582,C,G&fts=all	P655A	--	--	1				HNSCC(70;0.22)																														NAV3_uc001syo.2_Missense_Mutation_p.P655A				possibly_damaging(0.529)	p.P655A	NM_014903	NP_055718		tolerated(0.22)		NAV3_HUMAN	NAV3	HGNC	Q8IVL0	NAV3_HUMAN			F8VZV4_HUMAN		9	2136	+			UPI0000E59849	655					SNV	NAV3,missense_variant,p.Pro655Ala,ENST00000397909,NM_001024383.1;NAV3,missense_variant,p.Pro655Ala,ENST00000228327,;NAV3,missense_variant,p.Pro655Ala,ENST00000266692,;NAV3,missense_variant,p.Pro655Ala,ENST00000536525,NM_014903.4;NAV3,missense_variant,p.Pro655Ala,ENST00000549464,;	uc001syp.2	c.1963C>G	2136/9821	3	3			c.1963C>G						12	SNP	c.(1963-1965)CCT>GCT	1	1			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17	Broad	neuron navigator 3			78415582		0.413	ENSG00000067798	10000	g.chr12:78415582C>G		nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			1091			1091	53.68892	KEEP	25	16	-1	127	152	25	16	-1	91.373823	127	152	0.120301	1	0	0	0	0	1	0	0	0	--	--	HNSCC(70;0.22)	0	G			NAV3_uc001syo.2_Missense_Mutation_p.P655A	106	GBM-06-6390-TP	p.P655A	C	CTGTACCAGTCCTACAAAGAT	NM_014903	NP_055718	78415582	Q8IVL0	NAV3_HUMAN	0			9	2136	+	G	G			Missense_Mutation	655						
NAV3	0	broad.mit.edu	GRCh37	12	78591133	78591133	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-2619-01	TCGA-19-2619-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397909.2:c.6398C>G	p.Ser2133Cys	p.S2133C	ENST00000397909	NM_001024383.1	2133	tCt/tGt	0			1			G	S/C	uc001syp.2	protein_coding		CCDS66432.1			6398/7158									large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17	c.(6397-6399)TCT>TGT			Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,Pfam_domain:PF13173,hmmpanther:PTHR12784,hmmpanther:PTHR12784:SF18	neuron navigator 3				ENSP00000381007		35/40									COSM2156179,COSM2156178	35/40	.		ENST00000397909	Transcript				nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	ENSG00000067798	g.chr12:78591133C>G	15998			MODERATE		3.4	medium	getma.org/?cm=msa&ty=f&p=NAV3_HUMAN&rb=2048&re=2172&var=S2133C	NA	getma.org/?cm=var&var=hg19,12,78591133,C,G&fts=all	S2133C	--	--	1				HNSCC(70;0.22)																														NAV3_uc001syo.2_Missense_Mutation_p.S2111C|NAV3_uc010sub.1_Missense_Mutation_p.S1590C|NAV3_uc009zsf.2_Missense_Mutation_p.S942C	1,1			probably_damaging(1)	p.S2133C	NM_014903	NP_055718		deleterious(0)	1,1	NAV3_HUMAN	NAV3	HGNC	Q8IVL0	NAV3_HUMAN			F8VZV4_HUMAN		35	6571	+			UPI0000E59849	2133					SNV	NAV3,missense_variant,p.Ser2133Cys,ENST00000397909,NM_001024383.1;NAV3,missense_variant,p.Ser2111Cys,ENST00000228327,;NAV3,missense_variant,p.Ser1934Cys,ENST00000266692,;NAV3,missense_variant,p.Ser2111Cys,ENST00000536525,NM_014903.4;NAV3,missense_variant,p.Ser1006Cys,ENST00000552895,;NAV3,missense_variant,p.Ser733Cys,ENST00000550788,;NAV3,upstream_gene_variant,,ENST00000541270,;NAV3,upstream_gene_variant,,ENST00000551162,;NAV3,upstream_gene_variant,,ENST00000547884,;	uc001syp.2	c.6398C>G	6571/9821	3	3			c.6398C>G						12	SNP	c.(6397-6399)TCT>TGT	6	6			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17	Broad	neuron navigator 3			78591133		0.328	ENSG00000067798	10000	g.chr12:78591133C>G		nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			1091			1091	55.485943	KEEP	7	9	-1	14	22	7	9	-1	56.543676	14	22	0.340426	1	0	0	0	0	1	0	0	0	--	--	HNSCC(70;0.22)	0	G			NAV3_uc001syo.2_Missense_Mutation_p.S2111C|NAV3_uc010sub.1_Missense_Mutation_p.S1590C|NAV3_uc009zsf.2_Missense_Mutation_p.S942C	161	GBM-19-2619-TP	p.S2133C	C	CATGTGGGCTCTCTGAGTGAT	NM_014903	NP_055718	78591133	Q8IVL0	NAV3_HUMAN	0			35	6571	+	G	G			Missense_Mutation	2133						
NBAS	0	broad.mit.edu	GRCh37	2	15564456	15564456	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-41-2573-01	TCGA-41-2573-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281513.5:c.2560G>C	p.Glu854Gln	p.E854Q	ENST00000281513	NM_015909.3	854	Gag/Cag	0			1			G	E/Q	uc002rcc.1	protein_coding	YES	CCDS1685.1			2560/7116									ovary(2)|liver(1)|skin(1)	4	c.(2560-2562)GAG>CAG			Pfam_domain:PF08314,hmmpanther:PTHR15922,hmmpanther:PTHR15922:SF2	neuroblastoma-amplified protein				ENSP00000281513		23/52									COSM3406952	23/52	.		ENST00000281513	Transcript	1					ENSG00000151779	g.chr2:15564456C>G	15625			MODERATE		2.36	medium	getma.org/?cm=msa&ty=f&p=NBAS_HUMAN&rb=725&re=1379&var=E854Q	NA	getma.org/?cm=var&var=hg19,2,15564456,C,G&fts=all	E854Q	--	--	1																																		NBAS_uc010exl.1_Missense_Mutation_p.E46Q|NBAS_uc002rcd.1_RNA	1	1		probably_damaging(0.999)	p.E854Q	NM_015909	NP_056993		deleterious(0)	1	NBAS_HUMAN	NBAS	HGNC	A2RRP1	NBAS_HUMAN			Q4ZG05_HUMAN,H7C007_HUMAN		23	2586	-			UPI00001AEA68	854					SNV	NBAS,missense_variant,p.Glu854Gln,ENST00000281513,NM_015909.3;NBAS,missense_variant,p.Glu854Gln,ENST00000441750,;NBAS,missense_variant,p.Glu22Gln,ENST00000442506,;NBAS,missense_variant,p.Glu21Gln,ENST00000441755,;	uc002rcc.1	c.2560G>C	2586/7281	3	3			c.2560G>C						2	SNP	c.(2560-2562)GAG>CAG	57	57			ovary(2)|liver(1)|skin(1)	4	Broad	neuroblastoma-amplified protein			15564456		0.502	ENSG00000151779	10001	g.chr2:15564456C>G										-17.166765	KEEP	1	2	-1	57	57	1	2	-1	6.510595	57	57	0.030612	1	0	0	0	0	1	0	0	0	--	--		0	G			NBAS_uc010exl.1_Missense_Mutation_p.E46Q|NBAS_uc002rcd.1_RNA	252	GBM-41-2573-TP	p.E854Q	C	GCATAATGCTCTATTTCCTCT	NM_015909	NP_056993	15564456	A2RRP1	NBAS_HUMAN	0			23	2586	-	G	G			Missense_Mutation	854						
NBAS	0	broad.mit.edu	GRCh37	2	15615941	15615941	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01	TCGA-41-3392-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281513.5:c.1211C>T	p.Ala404Val	p.A404V	ENST00000281513	NM_015909.3	404	gCt/gTt	0			1			A	A/V	uc002rcc.1	protein_coding	YES	CCDS1685.1			1211/7116									ovary(2)|liver(1)|skin(1)	4	c.(1210-1212)GCT>GTT			hmmpanther:PTHR15922,hmmpanther:PTHR15922:SF2	neuroblastoma-amplified protein				ENSP00000281513		14/52									COSM3406954	14/52	.		ENST00000281513	Transcript	1					ENSG00000151779	g.chr2:15615941G>A	15625			MODERATE		1.54	low	getma.org/?cm=msa&ty=f&p=NBAS_HUMAN&rb=401&re=600&var=A404V	NA	getma.org/?cm=var&var=hg19,2,15615941,G,A&fts=all	A404V	--	--	1																																		NBAS_uc002rcd.1_RNA	1	1		probably_damaging(0.998)	p.A404V	NM_015909	NP_056993		tolerated(0.06)	1	NBAS_HUMAN	NBAS	HGNC	A2RRP1	NBAS_HUMAN			Q4ZG05_HUMAN,H7C007_HUMAN		14	1237	-			UPI00001AEA68	404					SNV	NBAS,missense_variant,p.Ala404Val,ENST00000281513,NM_015909.3;NBAS,missense_variant,p.Ala404Val,ENST00000441750,;NBAS,downstream_gene_variant,,ENST00000427792,;	uc002rcc.1	c.1211C>T	1237/7281	1	1			c.1211C>T						2	SNP	c.(1210-1212)GCT>GTT	49	49			ovary(2)|liver(1)|skin(1)	4	Broad	neuroblastoma-amplified protein			15615941		0.398	ENSG00000151779	10001	g.chr2:15615941G>A										3.362815	KEEP	4	3	-1	39	43	4	3	-1	16.356844	39	43	0.090909	1	0	0	0	0	1	0	0	0	--	--		0	A			NBAS_uc002rcd.1_RNA	254	GBM-41-3392-TP	p.A404V	G	AGAGCATCGAGCTAAAGTCAC	NM_015909	NP_056993	15615941	A2RRP1	NBAS_HUMAN	0			14	1237	-	A	A			Missense_Mutation	404						
NBAS	51594		GRCh37	2	15493765	15493765	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000281513.5:c.4001G>A	p.Arg1334His	p.R1334H	ENST00000281513	NM_015909.3	1334	cGt/cAt	0																																																																																																																																																																																																																																												
NBEA	26960	broad.mit.edu	GRCh37	13	35730325	35730325	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0174-01	TCGA-06-0174-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400445.3:c.2633A>C	p.Asn878Thr	p.N878T	ENST00000400445	NM_015678.4	878	aAc/aCc	0			1			C	N/T	uc001uvb.2	protein_coding	YES	CCDS45026.1			2633/8841									ovary(9)|large_intestine(2)	11	c.(2632-2634)AAC>ACC			hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743,Superfamily_domains:SSF48371	neurobeachin				ENSP00000383295		20/58	0.00173	0.00963	0.000285	0.000495	0.00156	0.00465			rs781378545,COSM3747946,COSM3747945	20/58	common_variant		ENST00000400445	Transcript				cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	ENSG00000172915	g.chr13:35730325A>C	7648			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=NBEA_HUMAN&rb=804&re=1003&var=N878T	NA	getma.org/?cm=var&var=hg19,13,35730325,A,C&fts=all	N878T	--	--	1																																			0,1,1	1		benign(0.049)	p.N878T	NM_015678	NP_056493		deleterious(0.02)	0,1,1	NBEA_HUMAN	NBEA	HGNC	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)			21	2839	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	UPI00004FF92F	878					SNV	NBEA,missense_variant,p.Asn878Thr,ENST00000400445,NM_015678.4;NBEA,missense_variant,p.Asn878Thr,ENST00000540320,;NBEA,missense_variant,p.Asn878Thr,ENST00000310336,;NBEA,missense_variant,p.Asn878Thr,ENST00000379939,;	uc001uvb.2	c.2633A>C	3167/11119	4	4			c.2633A>C						13	SNP	c.(2632-2634)AAC>ACC	33	33			ovary(9)|large_intestine(2)	11	Broad	neurobeachin			35730325		0.313	ENSG00000172915	10002	g.chr13:35730325A>C		cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding							6.46969	KEEP	3	6	-1	6	5	3	6	-1	6.563825	6	5	0.428571	1	0	0	0	0	1	0	0	0	--	--		0	C				37	GBM-06-0174-TP	p.N878T	A	CTTTTCAGTAACAGCCGTGAA	NM_015678	NP_056493	35730325	Q8NFP9	NBEA_HUMAN	0		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	21	2839	+	C	C		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	Missense_Mutation	878						
NBEA	0	broad.mit.edu	GRCh37	13	36124652	36124652	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400445.3:c.6624G>A	p.Met2208Ile	p.M2208I	ENST00000400445	NM_015678.4	2208	atG/atA	0			1			A	M/I	uc001uvb.2	protein_coding	YES	CCDS45026.1			6624/8841									ovary(9)|large_intestine(2)	11	c.(6622-6624)ATG>ATA			hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743,Gene3D:1t77A01,Pfam_domain:PF14844,Superfamily_domains:SSF50729	neurobeachin				ENSP00000383295		42/58									COSM3399351	42/58	.		ENST00000400445	Transcript				cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	ENSG00000172915	g.chr13:36124652G>A	7648			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=NBEA_HUMAN&rb=2134&re=2285&var=M2208I	getma.org/pdb.php?prot=NBEA_HUMAN&from=2134&to=2285&var=M2208I	getma.org/?cm=var&var=hg19,13,36124652,G,A&fts=all	M2208I	--	--	1																																		NBEA_uc010abi.2_Missense_Mutation_p.M864I|NBEA_uc010tee.1_Missense_Mutation_p.M1I|NBEA_uc010tef.1_Missense_Mutation_p.M1I|NBEA_uc010teg.1_Missense_Mutation_p.M1I	1	1		benign(0.017)	p.M2208I	NM_015678	NP_056493		tolerated(0.17)	1	NBEA_HUMAN	NBEA	HGNC	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)			42	6830	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	UPI00004FF92F	2208					SNV	NBEA,start_lost,p.Met1?,ENST00000537702,NM_001204197.1;NBEA,missense_variant,p.Met2208Ile,ENST00000540320,;NBEA,missense_variant,p.Met2208Ile,ENST00000400445,NM_015678.4;NBEA,missense_variant,p.Met2208Ile,ENST00000310336,;NBEA,missense_variant,p.Met2205Ile,ENST00000379939,;	uc001uvb.2	c.6624G>A	7158/11119	1	1			c.6624G>A						13	SNP	c.(6622-6624)ATG>ATA	51	51			ovary(9)|large_intestine(2)	11	Broad	neurobeachin			36124652		0.363	ENSG00000172915	10002	g.chr13:36124652G>A		cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding							16.880743	KEEP	9	8	-1	48	54	9	8	-1	29.872873	48	54	0.137255	1	0	0	0	0	1	0	0	0	--	--		0	A			NBEA_uc010abi.2_Missense_Mutation_p.M864I|NBEA_uc010tee.1_Missense_Mutation_p.M1I|NBEA_uc010tef.1_Missense_Mutation_p.M1I|NBEA_uc010teg.1_Missense_Mutation_p.M1I	131	GBM-12-5301-TP	p.M2208I	G	GAAAATGGATGTTCAGCGAGA	NM_015678	NP_056493	36124652	Q8NFP9	NBEA_HUMAN	0		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	42	6830	+	A	A		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	Missense_Mutation	2208						
NBEA	0	broad.mit.edu	GRCh37	13	35685025	35685025	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-26-5134-01	TCGA-26-5134-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400445.3:c.1912G>C	p.Gly638Arg	p.G638R	ENST00000400445	NM_015678.4	638	Gga/Cga	0			1			C	G/R	uc001uvb.2	protein_coding	YES	CCDS45026.1			1912/8841									ovary(9)|large_intestine(2)	11	c.(1912-1914)GGA>CGA			hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743	neurobeachin				ENSP00000383295		13/58									COSM3399349	13/58	.		ENST00000400445	Transcript				cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	ENSG00000172915	g.chr13:35685025G>C	7648			MODERATE		2.075	medium	getma.org/?cm=msa&ty=f&p=NBEA_HUMAN&rb=604&re=803&var=G638R	NA	getma.org/?cm=var&var=hg19,13,35685025,G,C&fts=all	G638R	--	--	1																																			1	1		probably_damaging(0.998)	p.G638R	NM_015678	NP_056493		deleterious(0)	1	NBEA_HUMAN	NBEA	HGNC	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)			14	2118	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	UPI00004FF92F	638					SNV	NBEA,missense_variant,p.Gly638Arg,ENST00000400445,NM_015678.4;NBEA,missense_variant,p.Gly638Arg,ENST00000540320,;NBEA,missense_variant,p.Gly638Arg,ENST00000310336,;NBEA,missense_variant,p.Gly638Arg,ENST00000379939,;	uc001uvb.2	c.1912G>C	2446/11119	3	3			c.1912G>C						13	SNP	c.(1912-1914)GGA>CGA	64	64			ovary(9)|large_intestine(2)	11	Broad	neurobeachin			35685025		0.368	ENSG00000172915	10002	g.chr13:35685025G>C		cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding							141.49661	KEEP	25	21	-1	35	35	25	21	-1	142.820458	35	35	0.383929	1	0	0	0	0	1	0	0	0	--	--		0	C				183	GBM-26-5134-TP	p.G638R	G	ACGCAGAGTAGGAACAGTATT	NM_015678	NP_056493	35685025	Q8NFP9	NBEA_HUMAN	0		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	14	2118	+	C	C		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	Missense_Mutation	638						
NBEA	0	broad.mit.edu	GRCh37	13	35883701	35883701	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-41-4097-01	TCGA-41-4097-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400445.3:c.5875G>C	p.Ala1959Pro	p.A1959P	ENST00000400445	NM_015678.4	1959	Gca/Cca	0			1			C	A/P	uc001uvb.2	protein_coding	YES	CCDS45026.1			5875/8841									ovary(9)|large_intestine(2)	11	c.(5875-5877)GCA>CCA			hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743	neurobeachin				ENSP00000383295		36/58									COSM3399350	36/58	.		ENST00000400445	Transcript				cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	ENSG00000172915	g.chr13:35883701G>C	7648			MODERATE		2.305	medium	getma.org/?cm=msa&ty=f&p=NBEA_HUMAN&rb=1804&re=1965&var=A1959P	NA	getma.org/?cm=var&var=hg19,13,35883701,G,C&fts=all	A1959P	--	--	1																																		NBEA_uc010abi.2_Missense_Mutation_p.A615P	1	1		possibly_damaging(0.799)	p.A1959P	NM_015678	NP_056493		deleterious(0)	1	NBEA_HUMAN	NBEA	HGNC	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)			36	6081	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	UPI00004FF92F	1959					SNV	NBEA,missense_variant,p.Ala1959Pro,ENST00000540320,;NBEA,missense_variant,p.Ala1959Pro,ENST00000400445,NM_015678.4;NBEA,missense_variant,p.Ala1959Pro,ENST00000310336,;NBEA,missense_variant,p.Ala1956Pro,ENST00000379939,;	uc001uvb.2	c.5875G>C	6409/11119	3	3			c.5875G>C						13	SNP	c.(5875-5877)GCA>CCA	52	52			ovary(9)|large_intestine(2)	11	Broad	neurobeachin			35883701		0.343	ENSG00000172915	10002	g.chr13:35883701G>C		cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding							5.640956	KEEP	2	0	-1	4	11	2	0	-1	7.130429	4	11	0.153846	1	0	0	0	0	1	0	0	0	--	--		0	C			NBEA_uc010abi.2_Missense_Mutation_p.A615P	257	GBM-41-4097-TP	p.A1959P	G	TGCAGGACTTGCATTTATTGA	NM_015678	NP_056493	35883701	Q8NFP9	NBEA_HUMAN	0		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	36	6081	+	C	C		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	Missense_Mutation	1959						
NBEA	26960		GRCh37	13	35619165	35619165	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000400445.3:c.608G>C	p.Arg203Pro	p.R203P	ENST00000400445	NM_015678.4	203	cGa/cCa	0																																																																																																																																																																																																																																												
NBEAL1	65065	broad.mit.edu	GRCh37	2	204002914	204002914	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0173-01	TCGA-06-0173-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449802.1:c.4508T>C	p.Ile1503Thr	p.I1503T	ENST00000449802	NM_001114132.1	1503	aTc/aCc	0			1			C	I/T	uc002uzt.3	protein_coding	YES	CCDS46495.1			4508/8085									ovary(1)|skin(1)	2	c.(4507-4509)ATC>ACC			hmmpanther:PTHR13743:SF59,hmmpanther:PTHR13743	neurobeachin-like 1 isoform 3				ENSP00000399903		29/55									COSM3407497,COSM3407496	29/55	.		ENST00000449802	Transcript					binding	ENSG00000144426	g.chr2:204002914T>C	20681			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=NBEL1_HUMAN&rb=1402&re=1601&var=I1503T	NA	getma.org/?cm=var&var=hg19,2,204002914,T,C&fts=all	I1503T	--	--	1																																		NBEAL1_uc002uzs.3_Missense_Mutation_p.I213T	1,1	1		benign(0.017)	p.I1503T	NM_001114132	NP_001107604		deleterious(0.01)	1,1	NBEL1_HUMAN	NBEAL1	HGNC	Q6ZS30	NBEL1_HUMAN					29	4841	+			UPI000194EC27	1503					SNV	NBEAL1,missense_variant,p.Ile1503Thr,ENST00000449802,NM_001114132.1;	uc002uzt.3	c.4508T>C	4841/10938	3	3			c.4508T>C						2	SNP	c.(4507-4509)ATC>ACC	8	8			ovary(1)|skin(1)	2	Broad	neurobeachin-like 1 isoform 3			204002914		0.373	ENSG00000144426	10003	g.chr2:204002914T>C			binding							-4.294156	KEEP	2	3	-1	42	46	2	3	-1	12.756502	42	46	0.059524	1	0	0	0	0	1	0	0	0	--	--		0	C			NBEAL1_uc002uzs.3_Missense_Mutation_p.I213T	36	GBM-06-0173-TP	p.I1503T	T	GAATGGGCAATCTCAGAAAAC	NM_001114132	NP_001107604	204002914	Q6ZS30	NBEL1_HUMAN	0			29	4841	+	C	C			Missense_Mutation	1503						
NBEAL1	65065	broad.mit.edu	GRCh37	2	204037528	204037528	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0213-01	TCGA-06-0213-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449802.1:c.6188A>G	p.Lys2063Arg	p.K2063R	ENST00000449802	NM_001114132.1	2063	aAa/aGa	0			1			G	K/R	uc002uzt.3	protein_coding	YES	CCDS46495.1			6188/8085									ovary(1)|skin(1)	2	c.(6187-6189)AAA>AGA			PROSITE_profiles:PS50197,hmmpanther:PTHR13743:SF59,hmmpanther:PTHR13743,Gene3D:1t77A02,Pfam_domain:PF02138,SMART_domains:SM01026,Superfamily_domains:SSF81837	neurobeachin-like 1 isoform 3				ENSP00000399903		40/55									COSM2150828,COSM2150827	40/55	.		ENST00000449802	Transcript					binding	ENSG00000144426	g.chr2:204037528A>G	20681			MODERATE		1.91	medium	getma.org/?cm=msa&ty=f&p=NBEL1_HUMAN&rb=2004&re=2284&var=K2063R	getma.org/pdb.php?prot=NBEL1_HUMAN&from=2004&to=2284&var=K2063R	getma.org/?cm=var&var=hg19,2,204037528,A,G&fts=all	K2063R	--	--	1																																		NBEAL1_uc002uzs.3_Missense_Mutation_p.K773R	1,1	1		probably_damaging(0.999)	p.K2063R	NM_001114132	NP_001107604		tolerated(0.06)	1,1	NBEL1_HUMAN	NBEAL1	HGNC	Q6ZS30	NBEL1_HUMAN					40	6521	+			UPI000194EC27	2063			BEACH.		SNV	NBEAL1,missense_variant,p.Lys2063Arg,ENST00000449802,NM_001114132.1;NBEAL1,missense_variant,p.Lys78Arg,ENST00000414576,;	uc002uzt.3	c.6188A>G	6521/10938	4	4			c.6188A>G						2	SNP	c.(6187-6189)AAA>AGA	21	21			ovary(1)|skin(1)	2	Broad	neurobeachin-like 1 isoform 3			204037528		0.328	ENSG00000144426	10003	g.chr2:204037528A>G			binding							245.574239	KEEP	38	39	-1	72	71	38	39	-1	249.388082	72	71	0.353234	1	0	0	0	0	1	0	0	0	--	--		0	G			NBEAL1_uc002uzs.3_Missense_Mutation_p.K773R	49	GBM-06-0213-TP	p.K2063R	A	GATCTTTCCAAACCAATTGGG	NM_001114132	NP_001107604	204037528	Q6ZS30	NBEL1_HUMAN	0			40	6521	+	G	G			Missense_Mutation	2063			BEACH.			
NBEAL1	0	broad.mit.edu	GRCh37	2	204000539	204000539	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-2513-01	TCGA-28-2513-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449802.1:c.3866T>C	p.Val1289Ala	p.V1289A	ENST00000449802	NM_001114132.1	1289	gTt/gCt	0			1			C	V/A	uc002uzt.3	protein_coding	YES	CCDS46495.1			3866/8085									ovary(1)|skin(1)	2	c.(3865-3867)GTT>GCT			hmmpanther:PTHR13743:SF59,hmmpanther:PTHR13743	neurobeachin-like 1 isoform 3				ENSP00000399903		27/55									COSM3407495	27/55	.		ENST00000449802	Transcript					binding	ENSG00000144426	g.chr2:204000539T>C	20681			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=NBEL1_HUMAN&rb=1202&re=1401&var=V1289A	NA	getma.org/?cm=var&var=hg19,2,204000539,T,C&fts=all	V1289A	--	--	1																																		NBEAL1_uc002uzs.3_5'UTR	1	1		benign(0.001)	p.V1289A	NM_001114132	NP_001107604		tolerated(0.81)	1	NBEL1_HUMAN	NBEAL1	HGNC	Q6ZS30	NBEL1_HUMAN					27	4199	+			UPI000194EC27	1289					SNV	NBEAL1,missense_variant,p.Val1289Ala,ENST00000449802,NM_001114132.1;	uc002uzt.3	c.3866T>C	4199/10938	3	3			c.3866T>C						2	SNP	c.(3865-3867)GTT>GCT	12	12			ovary(1)|skin(1)	2	Broad	neurobeachin-like 1 isoform 3			204000539		0.343	ENSG00000144426	10003	g.chr2:204000539T>C			binding							9.045448	KEEP	3	2	-1	16	22	3	2	-1	15.028368	16	22	0.119048	1	0	0	0	0	1	0	0	0	--	--		0	C			NBEAL1_uc002uzs.3_5'UTR	213	GBM-28-2513-TP	p.V1289A	T	AGTAGAGCTGTTTTAATGAAA	NM_001114132	NP_001107604	204000539	Q6ZS30	NBEL1_HUMAN	0			27	4199	+	C	C			Missense_Mutation	1289						
NBEAL2	23218	broad.mit.edu	GRCh37	3	47040042	47040042	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000450053.3:c.3208C>T	p.Arg1070Cys	p.R1070C	ENST00000450053	NM_015175.2	1070	Cgc/Tgc	0			1			T	R/C	uc003cqp.2	protein_coding	YES	CCDS46817.1			3208/8265									ovary(1)	1	c.(3208-3210)CGC>TGC			hmmpanther:PTHR13743:SF50,hmmpanther:PTHR13743	neurobeachin-like 2				ENSP00000415034		22/54									COSM3408698,COSM3408697	22/54	.		ENST00000450053	Transcript	1				binding	ENSG00000160796	g.chr3:47040042C>T	31928			MODERATE		2.085	medium	getma.org/?cm=msa&ty=f&p=NBEL2_HUMAN&rb=1020&re=1219&var=R1070C	NA	getma.org/?cm=var&var=hg19,3,47040042,C,T&fts=all	R1070C	--	--	1																																OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NBEAL2_uc010hjm.1_Missense_Mutation_p.R631C	1,1	1		probably_damaging(0.932)	p.R1070C	NM_015175	NP_055990		deleterious(0)	1,1	NBEL2_HUMAN	NBEAL2	HGNC	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	B4DVX0_HUMAN,B4DDY6_HUMAN		22	3387	+		Acute lymphoblastic leukemia(5;0.0534)	UPI000022C020	1070					SNV	NBEAL2,missense_variant,p.Arg1070Cys,ENST00000450053,NM_015175.2;NBEAL2,missense_variant,p.Arg1070Cys,ENST00000292309,;NBEAL2,missense_variant,p.Arg542Cys,ENST00000416683,;NBEAL2,5_prime_UTR_variant,,ENST00000383740,;NBEAL2,upstream_gene_variant,,ENST00000443829,;NBEAL2,upstream_gene_variant,,ENST00000475689,;	uc003cqp.2	c.3208C>T	3387/8827	2	2			c.3208C>T						3	SNP	c.(3208-3210)CGC>TGC	34	34			ovary(1)	1	Broad	neurobeachin-like 2			47040042		0.612	ENSG00000160796	10004	g.chr3:47040042C>T			binding							47.118071	KEEP	5	13	-1	6	6	5	13	-1	47.189891	6	6	0.555556	1	0	0	0	0	1	0	0	0	--	--		0	T	OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NBEAL2_uc010hjm.1_Missense_Mutation_p.R631C	102	GBM-06-5858-TP	p.R1070C	C	GGATGCTCTGCGCACCCACTA	NM_015175	NP_055990	47040042	Q6ZNJ1	NBEL2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	22	3387	+	T	T		Acute lymphoblastic leukemia(5;0.0534)	Missense_Mutation	1070						
NBEAL2	0	broad.mit.edu	GRCh37	3	47040321	47040321	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-26-6173-01	TCGA-26-6173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000450053.3:c.3336C>T	p.Val1112=	p.V1112=	ENST00000450053	NM_015175.2	1112	gtC/gtT	0			1			T	V	uc003cqp.2	protein_coding	YES	CCDS46817.1			3336/8265									ovary(1)	1	c.(3334-3336)GTC>GTT			hmmpanther:PTHR13743:SF50,hmmpanther:PTHR13743	neurobeachin-like 2				ENSP00000415034		23/54									COSM3408700,COSM3408699	23/54	.		ENST00000450053	Transcript	1				binding	ENSG00000160796	g.chr3:47040321C>T	31928			LOW								--	--	1																																OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NBEAL2_uc010hjm.1_Silent_p.V673V	1,1	1			p.V1112V	NM_015175	NP_055990			1,1	NBEL2_HUMAN	NBEAL2	HGNC	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	B4DVX0_HUMAN,B4DDY6_HUMAN		23	3515	+		Acute lymphoblastic leukemia(5;0.0534)	UPI000022C020	1112					SNV	NBEAL2,synonymous_variant,p.=,ENST00000450053,NM_015175.2;NBEAL2,synonymous_variant,p.=,ENST00000292309,;NBEAL2,synonymous_variant,p.=,ENST00000416683,;NBEAL2,5_prime_UTR_variant,,ENST00000383740,;NBEAL2,upstream_gene_variant,,ENST00000443829,;NBEAL2,upstream_gene_variant,,ENST00000475689,;	uc003cqp.2	c.3336C>T	3515/8827	2	2			c.3336C>T						3	SNP	c.(3334-3336)GTC>GTT	38	38			ovary(1)	1	Broad	neurobeachin-like 2			47040321		0.672	ENSG00000160796	10004	g.chr3:47040321C>T			binding							7.218963	KEEP	1	2	-1	3	7	1	2	-1	7.90094	3	7	0.25	1	0	0	0	0	0	0	1	0	--	--		0	T	OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NBEAL2_uc010hjm.1_Silent_p.V673V	187	GBM-26-6173-TP	p.V1112V	C	ACGTGCAGGTCACGCAGACCA	NM_015175	NP_055990	47040321	Q6ZNJ1	NBEL2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	23	3515	+	T	T		Acute lymphoblastic leukemia(5;0.0534)	Silent	1112						
NBEAL2	23218		GRCh37	3	47041686	47041686	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000450053.3:c.4097G>T	p.Gly1366Val	p.G1366V	ENST00000450053	NM_015175.2	1366	gGa/gTa	0																																																																																																																																																																																																																																												
NBPF1	0	broad.mit.edu	GRCh37	1	16893838	16893838	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5952-01	TCGA-19-5952-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000430580.2:c.2675G>A	p.Arg892Lys	p.R892K	ENST00000430580	NM_017940.4	892	aGg/aAg	0			1			T	R/K	uc009vos.1	protein_coding	YES				2675/3420										0	c.(2899-2901)AGG>AAG			Pfam_domain:PF06758,PROSITE_profiles:PS51316,hmmpanther:PTHR14199,hmmpanther:PTHR14199:SF16	hypothetical protein LOC55672				ENSP00000474456		25/29										25/29	.		ENST00000430580	Transcript				cytoplasm		ENSG00000219481	g.chr1:16893838C>T	26088			MODERATE		2.965	medium	getma.org/?cm=msa&ty=f&p=NBPF1_HUMAN&rb=880&re=946&var=R892K	NA	getma.org/?cm=var&var=hg19,1,16893838,C,T&fts=all	R892K	--	--	1																																		NBPF1_uc009vot.1_Missense_Mutation_p.R350K|NBPF1_uc001ayz.1_Missense_Mutation_p.R350K|NBPF1_uc010oce.1_Missense_Mutation_p.R621K		1		benign(0.19)	p.R967K	NM_017940	NP_060410		tolerated(0.21)			NBPF1	HGNC	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	S4R3W5_HUMAN,S4R3K2_HUMAN,S4R3H5_HUMAN,Q3BBU8_HUMAN		26	3788	-			UPI0000E04FDF	967			NBPF 6.		SNV	NBPF1,missense_variant,p.Arg892Lys,ENST00000430580,NM_017940.4;NBPF1,synonymous_variant,p.=,ENST00000432949,;NBPF1,3_prime_UTR_variant,,ENST00000420031,;NBPF1,downstream_gene_variant,,ENST00000287968,;NBPF1,3_prime_UTR_variant,,ENST00000392963,;	uc009vos.1	c.2900G>A	3563/5932	2	2			c.2900G>A						1	SNP	c.(2899-2901)AGG>AAG	42	42				0	Broad	hypothetical protein LOC55672			16893838		0.473	ENSG00000219481	10007	g.chr1:16893838C>T		cytoplasm								-150.812429	KEEP	11	10	-1	470	509	11	10	-1	27.842437	470	509	0.02149	1	0	0	0	0	1	0	0	0	--	--		0	T			NBPF1_uc009vot.1_Missense_Mutation_p.R350K|NBPF1_uc001ayz.1_Missense_Mutation_p.R350K|NBPF1_uc010oce.1_Missense_Mutation_p.R621K	172	GBM-19-5952-TP	p.R967K	C	CAGCAGCTCCCTGCTGAGCCT	NM_017940	NP_060410	16893838	Q3BBV0	NBPF1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	26	3788	-	T	T			Missense_Mutation	967			NBPF 6.			
NBPF10	100132406		GRCh37	1	145324371	145324371	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000342960.5:c.3566T>C	p.Val1189Ala	p.V1189A	ENST00000342960	NM_001039703.5	1189	gTa/gCa	0																																																																																																																																																																																																																																												
NBPF10	100132406		GRCh37	1	145299838	145299838	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000342960.5:c.887G>A	p.Arg296His	p.R296H	ENST00000342960	NM_001039703.5	296	cGc/cAc	0																																																																																																																																																																																																																																												
NBPF10	100132406		GRCh37	1	145324371	145324371	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000342960.5:c.3566T>C	p.Val1189Ala	p.V1189A	ENST00000342960	NM_001039703.5	1189	gTa/gCa	0																																																																																																																																																																																																																																												
NBPF10	100132406		GRCh37	1	145367767	145367767	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000342960.5:c.10363G>A	p.Glu3455Lys	p.E3455K	ENST00000342960	NM_001039703.5	3455	Gaa/Aaa	0																																																																																																																																																																																																																																												
NBPF10	100132406		GRCh37	1	145296403	145296403	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000342960.5:c.325C>T	p.Leu109=	p.L109=	ENST00000342960	NM_001039703.5	109	Cta/Tta	0																																																																																																																																																																																																																																												
NBPF10	100132406		GRCh37	1	145293478	145293478	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000342960.5:c.73C>T	p.Arg25Cys	p.R25C	ENST00000342960	NM_001039703.5	25	Cgc/Tgc	0																																																																																																																																																																																																																																												
NCALD	0	broad.mit.edu	GRCh37	8	102705056	102705056	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-19-2629-01	TCGA-19-2629-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000220931.6:c.447A>G	p.Thr149=	p.T149=	ENST00000220931	NM_032041.2	149	acA/acG	0			1			C	T	uc003yke.2	protein_coding		CCDS6292.1			447/582										0	c.(445-447)ACA>ACG			PROSITE_profiles:PS50222,hmmpanther:PTHR23055:SF87,hmmpanther:PTHR23055,Pfam_domain:PF13499,Gene3D:1.10.238.10,SMART_domains:SM00054,Superfamily_domains:SSF47473,Prints_domain:PR00450	neurocalcin delta				ENSP00000220931		4-Mar									COSM2156354	4-Mar	.		ENST00000220931	Transcript			synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding	ENSG00000104490	g.chr8:102705056T>C	7655			LOW								--	--	1																																		NCALD_uc003ykf.2_Silent_p.T149T|NCALD_uc003ykg.2_Silent_p.T149T|NCALD_uc003ykh.2_Silent_p.T149T|NCALD_uc003yki.2_Silent_p.T149T|NCALD_uc003ykj.2_Silent_p.T149T|NCALD_uc003ykk.2_Silent_p.T149T|NCALD_uc003ykl.2_Silent_p.T149T	1				p.T149T	NM_032041	NP_114430			1	NCALD_HUMAN	NCALD	HGNC	P61601	NCALD_HUMAN	all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)		E5RK89_HUMAN,E5RJT1_HUMAN,E5RJJ6_HUMAN,E5RIZ1_HUMAN,E5RIX3_HUMAN,E5RIG4_HUMAN,E5RI95_HUMAN,E5RI78_HUMAN,E5RHE8_HUMAN,E5RHC8_HUMAN,E5RGZ0_HUMAN,E5RFL9_HUMAN,B2RB70_HUMAN		3	816	-	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		UPI0000004090	149			EF-hand 4.		SNV	NCALD,synonymous_variant,p.=,ENST00000395923,NM_001040630.1,NM_001040627.1,NM_001040629.1,NM_001040628.1;NCALD,synonymous_variant,p.=,ENST00000311028,NM_001040626.1,NM_001040624.1;NCALD,synonymous_variant,p.=,ENST00000220931,NM_032041.2;NCALD,synonymous_variant,p.=,ENST00000521599,NM_001040625.1;NCALD,synonymous_variant,p.=,ENST00000519508,;NCALD,synonymous_variant,p.=,ENST00000522951,;NCALD,intron_variant,,ENST00000522448,;NCALD,downstream_gene_variant,,ENST00000520690,;KB-1107E3.1,downstream_gene_variant,,ENST00000518749,;NCALD,non_coding_transcript_exon_variant,,ENST00000522754,;	uc003yke.2	c.447A>G	566/3283	3	3			c.447A>G						8	SNP	c.(445-447)ACA>ACG	10	10				0	Broad	neurocalcin delta			102705056		0.507	ENSG00000104490	10014	g.chr8:102705056T>C	synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding							119.571359	KEEP	20	25	-1	55	37	20	25	-1	122.709898	55	37	0.327731	1	0	0	0	0	0	0	1	0	--	--		0	C			NCALD_uc003ykf.2_Silent_p.T149T|NCALD_uc003ykg.2_Silent_p.T149T|NCALD_uc003ykh.2_Silent_p.T149T|NCALD_uc003yki.2_Silent_p.T149T|NCALD_uc003ykj.2_Silent_p.T149T|NCALD_uc003ykk.2_Silent_p.T149T|NCALD_uc003ykl.2_Silent_p.T149T	166	GBM-19-2629-TP	p.T149T	T	AGATCTTTTCTGTTCTTTTCT	NM_032041	NP_114430	102705056	P61601	NCALD_HUMAN	0	all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)		3	816	-	C	C	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		Silent	149			EF-hand 4.			
NCAM1	0	broad.mit.edu	GRCh37	11	113076266	113076266	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-1747-01	TCGA-28-1747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316851.7:c.338C>T	p.Ala113Val	p.A113V	ENST00000316851	NM_181351.4	113	gCg/gTg	0			1			T	A/V	uc009yyq.1	protein_coding					338/2547									ovary(1)	1	c.(13-15)GCG>GTG			PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF34,hmmpanther:PTHR10489,Pfam_domain:PF07679,Gene3D:2.60.40.10,Superfamily_domains:SSF48726,Prints_domain:PR01838	neural cell adhesion molecule 1 isoform 3				ENSP00000318472		18-Mar	8.27E-06		8.64E-05						rs782167976,COSM1351297,COSM1351296,COSM1351298	18-Mar	.		ENST00000316851	Transcript			axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		ENSG00000149294	g.chr11:113076266C>T	7656			MODERATE								--	--	1																																		NCAM1_uc001pno.2_Missense_Mutation_p.A5V	0,1,1,1			benign(0.044)	p.A5V	NM_001076682	NP_001070150		tolerated(0.6)	0,1,1,1		NCAM1	HGNC	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)			4	708	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	UPI0002065586	123			Ig-like C2-type 2.|Extracellular (Potential).		SNV	NCAM1,missense_variant,p.Ala113Val,ENST00000316851,NM_181351.4,NM_001242607.1;NCAM1,missense_variant,p.Ala5Val,ENST00000533760,NM_001242608.1;NCAM1,missense_variant,p.Ala182Val,ENST00000524665,NM_000615.6;NCAM1,missense_variant,p.Ala168Val,ENST00000534015,NM_001076682.3;NCAM1,missense_variant,p.Ala122Val,ENST00000401611,;NCAM1,non_coding_transcript_exon_variant,,ENST00000397957,;NCAM1,non_coding_transcript_exon_variant,,ENST00000531044,;NCAM1,non_coding_transcript_exon_variant,,ENST00000531915,;NCAM1,non_coding_transcript_exon_variant,,ENST00000527506,;NCAM1,non_coding_transcript_exon_variant,,ENST00000529420,;NCAM1,non_coding_transcript_exon_variant,,ENST00000525973,;NCAM1,non_coding_transcript_exon_variant,,ENST00000529356,;NCAM1,intron_variant,,ENST00000528742,;NCAM1,intron_variant,,ENST00000526427,;	uc009yyq.1	c.14C>T	338/5571	2	2			c.14C>T						11	SNP	c.(13-15)GCG>GTG	46	46			ovary(1)	1	Broad	neural cell adhesion molecule 1 isoform 3			113076266		0.522	ENSG00000149294	10015	g.chr11:113076266C>T	axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane			p.A5V(SW1271-Tumor)	700		p.A5V(SW1271-Tumor)	700	-24.779079	KEEP	1	3	-1	81	59	1	3	-1	6.566579	81	59	0.030769	1	0	0	0	0	1	0	0	0	--	--		0	T			NCAM1_uc001pno.2_Missense_Mutation_p.A5V	206	GBM-28-1747-TP	p.A5V	C	TTCAAGAATGCGCCAACCCCA	NM_001076682	NP_001070150	113076266	P13591	NCAM1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	4	708	+	T	T		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	Missense_Mutation	123			Ig-like C2-type 2.|Extracellular (Potential).			
NCAM1	0	broad.mit.edu	GRCh37	11	113103495	113103496	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	CATTGGGC			TCGA-32-2638-01	TCGA-32-2638-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316851.7:c.1452_1459dupCATTGGGC	p.Gln487ProfsTer83	p.Q487Pfs*83	ENST00000316851	NM_181351.4	484	cgc/cgCATTGGGCc	0			1			CATTGGGC	R/RIGX	uc009yyq.1	protein_coding					1451-1452/2547									ovary(1)	1	c.(1204-1206)CGCfs			PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF34,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	neural cell adhesion molecule 1 isoform 3				ENSP00000318472		18-Nov										18-Nov	.		ENST00000316851	Transcript			axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		ENSG00000149294	g.chr11:113103495_113103496insCATTGGGC	7656	8		HIGH								--	--	1																																							p.R402fs	NM_001076682	NP_001070150					NCAM1	HGNC	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)			13	1899_1900	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	UPI0002065586	494			Ig-like C2-type 5.|Extracellular (Potential).		insertion	NCAM1,frameshift_variant,p.Gln487ProfsTer83,ENST00000316851,NM_181351.4,NM_001242607.1;NCAM1,frameshift_variant,p.Gln369ProfsTer83,ENST00000533760,NM_001242608.1;NCAM1,frameshift_variant,p.Gln546ProfsTer83,ENST00000524665,NM_000615.6;NCAM1,frameshift_variant,p.Gln532ProfsTer83,ENST00000534015,NM_001076682.3;NCAM1,frameshift_variant,p.Gln496ProfsTer83,ENST00000401611,;NCAM1,non_coding_transcript_exon_variant,,ENST00000397957,;NCAM1,non_coding_transcript_exon_variant,,ENST00000531044,;NCAM1,non_coding_transcript_exon_variant,,ENST00000531915,;NCAM1,non_coding_transcript_exon_variant,,ENST00000527506,;NCAM1,non_coding_transcript_exon_variant,,ENST00000526322,;NCAM1,non_coding_transcript_exon_variant,,ENST00000530543,;NCAM1,intron_variant,,ENST00000526427,;NCAM1,upstream_gene_variant,,ENST00000533073,;NCAM1,upstream_gene_variant,,ENST00000528590,;NCAM1,downstream_gene_variant,,ENST00000528742,;NCAM1,upstream_gene_variant,,ENST00000531817,;NCAM1,downstream_gene_variant,,ENST00000534046,;NCAM1,upstream_gene_variant,,ENST00000525355,;	uc009yyq.1	c.1205_1206insCATTGGGC	1451-1452/5571	5	5			c.1205_1206insCATTGGGC						11	INS	c.(1204-1206)CGCfs	35	35			ovary(1)	1	Broad	neural cell adhesion molecule 1 isoform 3			113103496		0.51	ENSG00000149294	10015	g.chr11:113103495_113103496insCATTGGGC	axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				700			700														0.14	1	0	0	1	1	0	0	0	0	--	--		0	CATTGGGC				242	GBM-32-2638-TP	p.R402fs	-	GCAGTGAACCGCATTGGGCAGG	NM_001076682	NP_001070150	113103495	P13591	NCAM1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	13	1899_1900	+	CATTGGGC	CATTGGGC		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	Frame_Shift_Ins	494			Ig-like C2-type 5.|Extracellular (Potential).			
NCAN	1463	broad.mit.edu	GRCh37	19	19337603	19337603	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0124-01	TCGA-06-0124-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252575.6:c.1381G>C	p.Gly461Arg	p.G461R	ENST00000252575	NM_004386.2	461	Ggc/Cgc	0			1			C	G/R	uc002nlz.2	protein_coding	YES	CCDS12397.1			1381/3966									ovary(4)	4	c.(1381-1383)GGC>CGC			hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF24	chondroitin sulfate proteoglycan 3 precursor				ENSP00000252575		15-Jul									COSM2149275,COSM2149276	15-Jul	.		ENST00000252575	Transcript			axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	ENSG00000130287	g.chr19:19337603G>C	2465			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=NCAN_HUMAN&rb=357&re=556&var=G461R	NA	getma.org/?cm=var&var=hg19,19,19337603,G,C&fts=all	G461R	--	--	1																																		NCAN_uc010ecc.1_Missense_Mutation_p.G25R	1,1	1		possibly_damaging(0.523)	p.G461R	NM_004386	NP_004377		deleterious(0.05)	1,1	NCAN_HUMAN	NCAN	HGNC	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		Q4LE67_HUMAN,F5H7X3_HUMAN		7	1480	+			UPI000013CD70	461					SNV	NCAN,missense_variant,p.Gly461Arg,ENST00000252575,NM_004386.2;NCAN,upstream_gene_variant,,ENST00000538881,;NCAN,upstream_gene_variant,,ENST00000590187,;	uc002nlz.2	c.1381G>C	1480/6387	3	3			c.1381G>C						19	SNP	c.(1381-1383)GGC>CGC	1	1			ovary(4)	4	Broad	chondroitin sulfate proteoglycan 3 precursor			19337603		0.642	ENSG00000130287	10017	g.chr19:19337603G>C	axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding							54.008498	KEEP	13	9	-1	38	33	13	9	-1	58.319698	38	33	0.261905	1	0	0	0	0	1	0	0	0	--	--		0	C			NCAN_uc010ecc.1_Missense_Mutation_p.G25R	11	GBM-06-0124-TP	p.G461R	G	CATGGGGGCAGGCACTGCAGC	NM_004386	NP_004377	19337603	O14594	NCAN_HUMAN	0	Epithelial(12;0.00544)		7	1480	+	C	C			Missense_Mutation	461						
NCAN	1463	broad.mit.edu	GRCh37	19	19356151	19356151	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252575.6:c.3522G>A	p.Pro1174=	p.P1174=	ENST00000252575	NM_004386.2	1174	ccG/ccA	0			1			A	P	uc002nlz.2	protein_coding	YES	CCDS12397.1			3522/3966									ovary(4)	4	c.(3520-3522)CCG>CCA			PROSITE_profiles:PS50041,hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF24,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	chondroitin sulfate proteoglycan 3 precursor				ENSP00000252575		13/15									COSM3101096,COSM3101097	13/15	.		ENST00000252575	Transcript			axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	ENSG00000130287	g.chr19:19356151G>A	2465			LOW								--	--	1																																		NCAN_uc002nma.2_Intron	1,1	1			p.P1174P	NM_004386	NP_004377			1,1	NCAN_HUMAN	NCAN	HGNC	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		Q4LE67_HUMAN,F5H7X3_HUMAN		13	3621	+			UPI000013CD70	1174			C-type lectin.		SNV	NCAN,synonymous_variant,p.=,ENST00000252575,NM_004386.2;NCAN,synonymous_variant,p.=,ENST00000538881,;NCAN,synonymous_variant,p.=,ENST00000588231,;NCAN,non_coding_transcript_exon_variant,,ENST00000585410,;	uc002nlz.2	c.3522G>A	3621/6387	1	1			c.3522G>A						19	SNP	c.(3520-3522)CCG>CCA	64	64			ovary(4)	4	Broad	chondroitin sulfate proteoglycan 3 precursor			19356151		0.572	ENSG00000130287	10017	g.chr19:19356151G>A	axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding							187.386102	KEEP	33	32	-1	8	9	33	32	-1	192.118943	8	9	0.771429	1	0	0	0	0	0	0	1	0	--	--		0	A			NCAN_uc002nma.2_Intron	102	GBM-06-5858-TP	p.P1174P	G	AGAACCAGCCGGACAATTTCT	NM_004386	NP_004377	19356151	O14594	NCAN_HUMAN	0	Epithelial(12;0.00544)		13	3621	+	A	A			Silent	1174			C-type lectin.			
NCAN	0	broad.mit.edu	GRCh37	19	19351446	19351446	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0790-01	TCGA-14-0790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252575.6:c.3444C>T	p.Asn1148=	p.N1148=	ENST00000252575	NM_004386.2	1148	aaC/aaT	0			1			T	N	uc002nlz.2	protein_coding	YES	CCDS12397.1			3444/3966									ovary(4)	4	c.(3442-3444)AAC>AAT			PROSITE_profiles:PS50041,hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF24,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436	chondroitin sulfate proteoglycan 3 precursor				ENSP00000252575		15-Dec	1.65E-05					1.51E-05		6.06E-05	rs756903565,COSM3403984,COSM3403985	15-Dec	.		ENST00000252575	Transcript			axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	ENSG00000130287	g.chr19:19351446C>T	2465			LOW								--	--	1																																		NCAN_uc002nma.2_Translation_Start_Site	0,1,1	1			p.N1148N	NM_004386	NP_004377			0,1,1	NCAN_HUMAN	NCAN	HGNC	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		Q4LE67_HUMAN,F5H7X3_HUMAN		12	3543	+			UPI000013CD70	1148			C-type lectin.		SNV	NCAN,synonymous_variant,p.=,ENST00000252575,NM_004386.2;NCAN,synonymous_variant,p.=,ENST00000538881,;NCAN,synonymous_variant,p.=,ENST00000588231,;NCAN,non_coding_transcript_exon_variant,,ENST00000585410,;NCAN,downstream_gene_variant,,ENST00000590187,;	uc002nlz.2	c.3444C>T	3543/6387	2	2			c.3444C>T						19	SNP	c.(3442-3444)AAC>AAT	48	48			ovary(4)	4	Broad	chondroitin sulfate proteoglycan 3 precursor			19351446		0.637	ENSG00000130287	10017	g.chr19:19351446C>T	axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding							-11.905569	KEEP	2	7	-1	63	91	2	7	-1	16.362304	63	91	0.057971	1	0	0	0	0	0	0	1	0	--	--		0	T			NCAN_uc002nma.2_Translation_Start_Site	137	GBM-14-0790-TP	p.N1148N	C	TCGGCCTGAACGACAGGATCG	NM_004386	NP_004377	19351446	O14594	NCAN_HUMAN	0	Epithelial(12;0.00544)		12	3543	+	T	T			Silent	1148			C-type lectin.			
NCAPD3	23310		GRCh37	11	134048751	134048751	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000534548.2:c.2640G>A	p.Gln880=	p.Q880=	ENST00000534548	NM_015261.2	880	caG/caA	0																																																																																																																																																																																																																																												
NCAPG	0	broad.mit.edu	GRCh37	4	17816578	17816578	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01	TCGA-19-2623-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251496.2:c.647G>A	p.Arg216His	p.R216H	ENST00000251496	NM_022346.4	216	cGc/cAc	0			1			A	R/H	uc003gpp.2	protein_coding	YES	CCDS3424.1			647/3048									large_intestine(1)	1	c.(646-648)CGC>CAC			Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR14418,hmmpanther:PTHR14418:SF5	chromosome condensation protein G				ENSP00000251496		21-Apr	8.24E-06					1.50E-05			rs757112253,COSM3409176	21-Apr	.		ENST00000251496	Transcript			cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding	ENSG00000109805	g.chr4:17816578G>A	24304			MODERATE		2.47	medium	getma.org/?cm=msa&ty=f&p=CND3_HUMAN&rb=201&re=400&var=R216H	NA	getma.org/?cm=var&var=hg19,4,17816578,G,A&fts=all	R216H	--	--	1																																		NCAPG_uc011bxj.1_5'UTR	0,1	1		probably_damaging(0.996)	p.R216H	NM_022346	NP_071741		deleterious(0)	0,1	CND3_HUMAN	NCAPG	HGNC	Q9BPX3	CND3_HUMAN		STAD - Stomach adenocarcinoma(129;0.18)			4	823	+			UPI0000073296	216					SNV	NCAPG,missense_variant,p.Arg216His,ENST00000251496,NM_022346.4;DCAF16,upstream_gene_variant,,ENST00000382247,NM_017741.3;DCAF16,upstream_gene_variant,,ENST00000536863,;DCAF16,upstream_gene_variant,,ENST00000507768,;DCAF16,upstream_gene_variant,,ENST00000507731,;NCAPG,missense_variant,p.Arg216His,ENST00000514176,;NCAPG,downstream_gene_variant,,ENST00000513226,;NCAPG,upstream_gene_variant,,ENST00000509719,;	uc003gpp.2	c.647G>A	823/4661	2	2			c.647G>A						4	SNP	c.(646-648)CGC>CAC	45	45			large_intestine(1)	1	Broad	chromosome condensation protein G			17816578		0.398	ENSG00000109805	10020	g.chr4:17816578G>A	cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding							-27.728246	KEEP	5	1	-1	91	66	5	1	-1	6.820802	91	66	0.028369	1	0	0	0	0	1	0	0	0	--	--		0	A			NCAPG_uc011bxj.1_5'UTR	163	GBM-19-2623-TP	p.R216H	G	ATTGTAGGGCGCACCAAGGAT	NM_022346	NP_071741	17816578	Q9BPX3	CND3_HUMAN	0		STAD - Stomach adenocarcinoma(129;0.18)	4	823	+	A	A			Missense_Mutation	216						
NCAPG	0	broad.mit.edu	GRCh37	4	17825349	17825349	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-41-3915-01	TCGA-41-3915-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251496.2:c.1339A>G	p.Arg447Gly	p.R447G	ENST00000251496	NM_022346.4	447	Aga/Gga	0			1			G	R/G	uc003gpp.2	protein_coding	YES	CCDS3424.1			1339/3048									large_intestine(1)	1	c.(1339-1341)AGA>GGA			hmmpanther:PTHR14418,hmmpanther:PTHR14418:SF5	chromosome condensation protein G				ENSP00000251496		21-Sep									COSM3409178	21-Sep	.		ENST00000251496	Transcript			cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding	ENSG00000109805	g.chr4:17825349A>G	24304			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=CND3_HUMAN&rb=401&re=557&var=R447G	NA	getma.org/?cm=var&var=hg19,4,17825349,A,G&fts=all	R447G	--	--	1																																		NCAPG_uc011bxj.1_5'UTR	1	1		benign(0.007)	p.R447G	NM_022346	NP_071741		deleterious(0.02)	1	CND3_HUMAN	NCAPG	HGNC	Q9BPX3	CND3_HUMAN		STAD - Stomach adenocarcinoma(129;0.18)			9	1515	+			UPI0000073296	447			HEAT 7.		SNV	NCAPG,missense_variant,p.Arg447Gly,ENST00000251496,NM_022346.4;NCAPG,missense_variant,p.Arg10Gly,ENST00000510063,;NCAPG,3_prime_UTR_variant,,ENST00000514176,;NCAPG,downstream_gene_variant,,ENST00000509719,;	uc003gpp.2	c.1339A>G	1515/4661	3	3			c.1339A>G						4	SNP	c.(1339-1341)AGA>GGA	61	61			large_intestine(1)	1	Broad	chromosome condensation protein G			17825349		0.323	ENSG00000109805	10020	g.chr4:17825349A>G	cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding							-18.067736	KEEP	2	1	-1	56	53	2	1	-1	6.471331	56	53	0.029703	1	0	0	0	0	1	0	0	0	--	--		0	G			NCAPG_uc011bxj.1_5'UTR	256	GBM-41-3915-TP	p.R447G	A	TCTTGTTGAAAGACTACTCCA	NM_022346	NP_071741	17825349	Q9BPX3	CND3_HUMAN	0		STAD - Stomach adenocarcinoma(129;0.18)	9	1515	+	G	G			Missense_Mutation	447			HEAT 7.			
NCAPG2	0	broad.mit.edu	GRCh37	7	158447341	158447341	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-6700-01	TCGA-06-6700-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356309.3:c.2692G>T	p.Asp898Tyr	p.D898Y	ENST00000356309	NM_017760.5	898	Gac/Tac	0			1			A	D/Y	uc003wnv.1	protein_coding		CCDS43686.1			2692/3432									ovary(1)|breast(1)|kidney(1)	3	c.(2692-2694)GAC>TAC			hmmpanther:PTHR16199,hmmpanther:PTHR16199:SF4	leucine zipper protein 5				ENSP00000348657		22/28									COSM3411875,COSM3411874	22/28	.		ENST00000356309	Transcript			cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	ENSG00000146918	g.chr7:158447341C>A	21904			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=CNDG2_HUMAN&rb=828&re=1027&var=D898Y	NA	getma.org/?cm=var&var=hg19,7,158447341,C,A&fts=all	D898Y	--	--	1																																		NCAPG2_uc010lqu.1_Missense_Mutation_p.D690Y|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.D898Y|NCAPG2_uc011kwe.1_Missense_Mutation_p.D898Y|NCAPG2_uc011kwc.1_Missense_Mutation_p.D399Y|NCAPG2_uc011kwd.1_Missense_Mutation_p.D341Y	1,1			possibly_damaging(0.867)	p.D898Y	NM_017760	NP_060230		deleterious(0)	1,1	CNDG2_HUMAN	NCAPG2	HGNC	Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)			22	2837	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	UPI000000DA46	898					SNV	NCAPG2,missense_variant,p.Asp898Tyr,ENST00000409339,NM_001281933.1;NCAPG2,missense_variant,p.Asp898Tyr,ENST00000409423,NM_001281932.1;NCAPG2,missense_variant,p.Asp898Tyr,ENST00000356309,NM_017760.5;NCAPG2,missense_variant,p.Asp898Tyr,ENST00000449727,;NCAPG2,missense_variant,p.Asp700Tyr,ENST00000441982,;NCAPG2,missense_variant,p.Asp690Tyr,ENST00000275830,;NCAPG2,missense_variant,p.Asp399Tyr,ENST00000541468,;NCAPG2,downstream_gene_variant,,ENST00000474940,;NCAPG2,downstream_gene_variant,,ENST00000475918,;NCAPG2,3_prime_UTR_variant,,ENST00000432615,;NCAPG2,non_coding_transcript_exon_variant,,ENST00000467785,;	uc003wnv.1	c.2692G>T	2837/3930	2	2			c.2692G>T						7	SNP	c.(2692-2694)GAC>TAC	30	30			ovary(1)|breast(1)|kidney(1)	3	Broad	leucine zipper protein 5			158447341		0.428	ENSG00000146918	10021	g.chr7:158447341C>A	cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding							48.06137	KEEP	18	14	0.4375	93	112	18	14	0.4375	72.669625	93	112	0.146341	1	0	0	0	0	1	0	0	0	--	--		0	A			NCAPG2_uc010lqu.1_Missense_Mutation_p.D690Y|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.D898Y|NCAPG2_uc011kwe.1_Missense_Mutation_p.D898Y|NCAPG2_uc011kwc.1_Missense_Mutation_p.D399Y|NCAPG2_uc011kwd.1_Missense_Mutation_p.D341Y	114	GBM-06-6700-TP	p.D898Y	C	AACTGATGGTCACCAAGGCCT	NM_017760	NP_060230	158447341	Q86XI2	CNDG2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	22	2837	-	A	A	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	Missense_Mutation	898						
NCAPH	0	broad.mit.edu	GRCh37	2	97035182	97035182	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-26-6174-01	TCGA-26-6174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000240423.4:c.2110C>A	p.Gln704Lys	p.Q704K	ENST00000240423	NM_001281711.1	704	Cag/Aag	0			1			A	Q/K	uc002svz.1	protein_coding	YES	CCDS2021.1			2110/2226									urinary_tract(1)|skin(1)	2	c.(2110-2112)CAG>AAG			hmmpanther:PTHR13108,Pfam_domain:PF05786,PIRSF_domain:PIRSF017126	non-SMC condensin I complex, subunit H				ENSP00000240423		17/18									COSM3408041	17/18	.		ENST00000240423	Transcript			cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		ENSG00000121152	g.chr2:97035182C>A	1112			MODERATE		1.65	low	getma.org/?cm=msa&ty=f&p=CND2_HUMAN&rb=33&re=740&var=Q704K	NA	getma.org/?cm=var&var=hg19,2,97035182,C,A&fts=all	Q704K	--	--	1																																		NCAPH_uc010yum.1_Missense_Mutation_p.Q680K|NCAPH_uc010fhw.1_Missense_Mutation_p.Q693K|NCAPH_uc010yun.1_Missense_Mutation_p.Q568K|NCAPH_uc002swa.1_Missense_Mutation_p.Q299K	1	1		benign(0.208)	p.Q704K	NM_015341	NP_056156		tolerated(0.51)	1	CND2_HUMAN	NCAPH	HGNC	Q15003	CND2_HUMAN			E9PHA2_HUMAN,B4E189_HUMAN		17	2194	+		Ovarian(717;0.0221)	UPI0000163F72	704					SNV	NCAPH,missense_variant,p.Gln693Lys,ENST00000455200,;NCAPH,missense_variant,p.Gln704Lys,ENST00000240423,NM_001281711.1,NM_001281710.1,NM_015341.4;NCAPH,missense_variant,p.Gln568Lys,ENST00000427946,NM_001281712.1;NCAPH,missense_variant,p.Gln145Lys,ENST00000435349,;NCAPH,downstream_gene_variant,,ENST00000435975,;	uc002svz.1	c.2110C>A	2153/2763	1	1			c.2110C>A						2	SNP	c.(2110-2112)CAG>AAG	52	52			urinary_tract(1)|skin(1)	2	Broad	non-SMC condensin I complex, subunit H			97035182		0.438	ENSG00000121152	10022	g.chr2:97035182C>A	cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus								27.817779	KEEP	14	13	0.481481481	87	106	14	13	0.481481481	54.052293	87	106	0.12234	1	0	0	0	0	1	0	0	0	--	--		0	A			NCAPH_uc010yum.1_Missense_Mutation_p.Q680K|NCAPH_uc010fhw.1_Missense_Mutation_p.Q693K|NCAPH_uc010yun.1_Missense_Mutation_p.Q568K|NCAPH_uc002swa.1_Missense_Mutation_p.Q299K	188	GBM-26-6174-TP	p.Q704K	C	TGTCATGGCTCAGAACCTCTC	NM_015341	NP_056156	97035182	Q15003	CND2_HUMAN	0			17	2194	+	A	A		Ovarian(717;0.0221)	Missense_Mutation	704						
NCBP1	0	broad.mit.edu	GRCh37	9	100433448	100433448	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-16-0846-01	TCGA-16-0846-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375147.3:c.2340C>T	p.Ala780=	p.A780=	ENST00000375147	NM_002486.4	780	gcC/gcT	0			1			T	A	uc004axq.2	protein_coding	YES	CCDS6728.1			2340/2373									central_nervous_system(1)	1	c.(2338-2340)GCC>GCT			Gene3D:1.25.40.180,hmmpanther:PTHR12412,Superfamily_domains:SSF48371	nuclear cap binding protein subunit 1, 80kDa				ENSP00000364289		23/23									COSM302728	23/23	.		ENST00000375147	Transcript			gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding	ENSG00000136937	g.chr9:100433448C>T	7658			LOW								--	--	1																																			1	1			p.A780A	NM_002486	NP_002477			1	NCBP1_HUMAN	NCBP1	HGNC	Q09161	NCBP1_HUMAN					23	2799	+		Acute lymphoblastic leukemia(62;0.158)	UPI0000112754	780					SNV	NCBP1,synonymous_variant,p.=,ENST00000375147,NM_002486.4;XPA,downstream_gene_variant,,ENST00000375128,NM_000380.3;NCBP1,downstream_gene_variant,,ENST00000375130,;XPA,downstream_gene_variant,,ENST00000485042,;NCBP1,upstream_gene_variant,,ENST00000491445,;XPA,downstream_gene_variant,,ENST00000462523,;	uc004axq.2	c.2340C>T	2596/5178	1	1			c.2340C>T						9	SNP	c.(2338-2340)GCC>GCT	13	13			central_nervous_system(1)	1	Broad	nuclear cap binding protein subunit 1, 80kDa			100433448		0.423	ENSG00000136937	10024	g.chr9:100433448C>T	gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding	Ovarian(36;879 898 2893 44212 50307)			Ovarian(36;879 898 2893 44212 50307)			-9.955263	KEEP	4	1	-1	60	36	4	1	-1	8.330667	60	36	0.047619	1	0	0	0	0	0	0	1	0	--	--		0	T				155	GBM-16-0846-TP	p.A780A	C	ATATCTTGGCCGTGTTCCAGC	NM_002486	NP_002477	100433448	Q09161	NCBP1_HUMAN	0			23	2799	+	T	T		Acute lymphoblastic leukemia(62;0.158)	Silent	780						
NCDN	23154	broad.mit.edu	GRCh37	1	36028235	36028235	+	splice_donor_variant	Splice_Site	SNP	G	G	A			TCGA-06-2563-01	TCGA-06-2563-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373243.2:c.1385+1G>A		p.X462_splice	ENST00000373243	NM_014284.2	462		0			1			A		uc001bza.2	protein_coding		CCDS392.1			1385/2190									large_intestine(2)|pancreas(1)	3	c.e5+1				neurochondrin isoform 1				ENSP00000348394											COSM2152908,COSM2152907,COSM3400712		.		ENST00000356090	Transcript			neuron projection development	cytosol|dendrite|neuronal cell body		ENSG00000020129	g.chr1:36028235G>A	17597			HIGH	7-May							--	--	1																																		NCDN_uc001bzb.2_Splice_Site_p.R462_splice|NCDN_uc001bzc.2_Splice_Site_p.R445_splice	1,1,1				p.R462_splice	NM_001014839	NP_001014839			1,1,1	NCDN_HUMAN	NCDN	HGNC	Q9UBB6	NCDN_HUMAN			C9J5H8_HUMAN,B4DJ92_HUMAN		5	1512	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	UPI000007147C						SNV	NCDN,splice_donor_variant,,ENST00000373243,NM_014284.2;NCDN,splice_donor_variant,,ENST00000373253,NM_001014841.1;NCDN,splice_donor_variant,,ENST00000356090,NM_001014839.1;NCDN,splice_donor_variant,,ENST00000423723,;KIAA0319L,upstream_gene_variant,,ENST00000426982,;NCDN,downstream_gene_variant,,ENST00000437806,;NCDN,downstream_gene_variant,,ENST00000459931,;KIAA0319L,upstream_gene_variant,,ENST00000482929,;	uc001bza.2	c.1385_splice	-/3433	5	2			c.1385_splice						1	SNP	c.e5+1	48	48			large_intestine(2)|pancreas(1)	3	Broad	neurochondrin isoform 1			36028235		0.597	ENSG00000020129	10027	g.chr1:36028235G>A	neuron projection development	cytosol|dendrite|neuronal cell body								45.125992	KEEP	7	10	-1	9	17	7	10	-1	45.342162	9	17	0.416667	1	0	0	0	0	0	0	0	1	--	--		0	A			NCDN_uc001bzb.2_Splice_Site_p.R462_splice|NCDN_uc001bzc.2_Splice_Site_p.R445_splice	86	GBM-06-2563-TP	p.R462_splice	G	ACGCTCTCCGGTGAGTCTGTA	NM_001014839	NP_001014839	36028235	Q9UBB6	NCDN_HUMAN	0			5	1512	+	A	A		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	Splice_Site							
NCDN	0	broad.mit.edu	GRCh37	1	36026428	36026431	+	frameshift_variant	Frame_Shift_Del	DEL	AGTG	AGTG	-			TCGA-76-4925-01	TCGA-76-4925-01	AGTG	AGTG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356090.4:c.678_681delTGAG	p.Ser226ArgfsTer47	p.S226Rfs*47	ENST00000356090	NM_001014839.1	226	AGTGag/ag	0			1			-	SE/X	uc001bza.2	protein_coding		CCDS392.1			676-679/2190									large_intestine(2)|pancreas(1)	3	c.(676-681)AGTGAGfs			hmmpanther:PTHR13109,Pfam_domain:PF05536,Superfamily_domains:SSF48371	neurochondrin isoform 1				ENSP00000348394		8-Apr										8-Apr	.		ENST00000356090	Transcript			neuron projection development	cytosol|dendrite|neuronal cell body		ENSG00000020129	g.chr1:36026428_36026431delAGTG	17597	2		HIGH								--	--	1																																		KIAA0319L_uc010ohw.1_5'Flank|NCDN_uc001bzb.2_Frame_Shift_Del_p.S226fs|NCDN_uc001bzc.2_Frame_Shift_Del_p.S209fs					p.S226fs	NM_001014839	NP_001014839				NCDN_HUMAN	NCDN	HGNC	Q9UBB6	NCDN_HUMAN			C9J5H8_HUMAN,B4DJ92_HUMAN		4	803_806	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	UPI000007147C	226_227					deletion	NCDN,frameshift_variant,p.Ser226ArgfsTer47,ENST00000373243,NM_014284.2;NCDN,frameshift_variant,p.Ser209ArgfsTer47,ENST00000373253,NM_001014841.1;NCDN,frameshift_variant,p.Ser226ArgfsTer47,ENST00000356090,NM_001014839.1;NCDN,frameshift_variant,p.Ser209ArgfsTer?,ENST00000437806,;KIAA0319L,upstream_gene_variant,,ENST00000325722,NM_024874.4;KIAA0319L,upstream_gene_variant,,ENST00000426982,;NCDN,upstream_gene_variant,,ENST00000423723,;KIAA0319L,upstream_gene_variant,,ENST00000469892,;NCDN,non_coding_transcript_exon_variant,,ENST00000459931,;KIAA0319L,upstream_gene_variant,,ENST00000492888,;KIAA0319L,upstream_gene_variant,,ENST00000476329,;KIAA0319L,upstream_gene_variant,,ENST00000473465,;KIAA0319L,upstream_gene_variant,,ENST00000482929,;KIAA0319L,upstream_gene_variant,,ENST00000478463,;KIAA0319L,upstream_gene_variant,,ENST00000470388,;	uc001bza.2	c.676_679delAGTG	803-806/3433	5	5			c.676_679delAGTG						1	DEL	c.(676-681)AGTGAGfs	54	54			large_intestine(2)|pancreas(1)	3	Broad	neurochondrin isoform 1			36026431		0.642	ENSG00000020129	10027	g.chr1:36026428_36026431delAGTG	neuron projection development	cytosol|dendrite|neuronal cell body																					0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			KIAA0319L_uc010ohw.1_5'Flank|NCDN_uc001bzb.2_Frame_Shift_Del_p.S226fs|NCDN_uc001bzc.2_Frame_Shift_Del_p.S209fs	265	GBM-76-4925-TP	p.S226fs	AGTG	GCGGGGCCTCAGTGAGGATTTCCA	NM_001014839	NP_001014839	36026428	Q9UBB6	NCDN_HUMAN	0			4	803_806	+	-	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	Frame_Shift_Del	226_227						
NCF1	0	broad.mit.edu	GRCh37	7	74193497	74193497	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1829-01	TCGA-14-1829-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000289473.4:c.223C>T	p.Leu75Phe	p.L75F	ENST00000289473	NM_000265.5	75	Ctc/Ttc	0			1			T	L/F	uc003ubb.2	protein_coding	YES	CCDS34657.1			223/1173									skin(1)	1	c.(223-225)CTC>TTC			Gene3D:3.30.1520.10,Pfam_domain:PF00787,PROSITE_profiles:PS50195,hmmpanther:PTHR15706,SMART_domains:SM00312,Superfamily_domains:SSF64268	neutrophil cytosolic factor 1				ENSP00000289473		11-Mar									COSM3412289	11-Mar	.		ENST00000289473	Transcript	1		cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity	ENSG00000158517	g.chr7:74193497C>T	7660			MODERATE		2.38	medium	getma.org/?cm=msa&ty=f&p=NCF1_HUMAN&rb=4&re=121&var=L75F	getma.org/pdb.php?prot=NCF1_HUMAN&from=4&to=121&var=L75F	getma.org/?cm=var&var=hg19,7,74193497,C,T&fts=all	L75F	--	--	1																																		NCF1_uc010lbs.1_Missense_Mutation_p.L75F|NCF1_uc011kfh.1_Intron	1	1		probably_damaging(0.995)	p.L75F	NM_000265	NP_000256		deleterious(0)	1	NCF1_HUMAN	NCF1	HGNC	P14598	NCF1_HUMAN					3	293	+			UPI000013DF7E	75			PX.		SNV	NCF1,missense_variant,p.Leu75Phe,ENST00000289473,NM_000265.5;NCF1,missense_variant,p.Leu75Phe,ENST00000433458,;NCF1,missense_variant,p.Leu82Phe,ENST00000442021,;NCF1,non_coding_transcript_exon_variant,,ENST00000443956,;NCF1,non_coding_transcript_exon_variant,,ENST00000438106,;NCF1,upstream_gene_variant,,ENST00000486097,;NCF1,non_coding_transcript_exon_variant,,ENST00000398421,;NCF1,non_coding_transcript_exon_variant,,ENST00000449343,;NCF1,intron_variant,,ENST00000455062,;NCF1,upstream_gene_variant,,ENST00000488197,;NCF1,upstream_gene_variant,,ENST00000464878,;STAG3L2,intron_variant,,ENST00000380775,;	uc003ubb.2	c.223C>T	293/1396	2	2			c.223C>T						7	SNP	c.(223-225)CTC>TTC	38	38			skin(1)	1	Broad	neutrophil cytosolic factor 1			74193497		0.552	ENSG00000158517	10029	g.chr7:74193497C>T	cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity							4.715281	KEEP	1	3	-1	21	14	1	3	-1	6.836467	21	14	0.157895	1	0	0	0	0	1	0	0	0	--	--		0	T			NCF1_uc010lbs.1_Missense_Mutation_p.L75F|NCF1_uc011kfh.1_Intron	149	GBM-14-1829-TP	p.L75F	C	CATCCCCCACCTCCCAGGTGA	NM_000265	NP_000256	74193497	P14598	NCF1_HUMAN	0			3	293	+	T	T			Missense_Mutation	75			PX.			
NCF2	4688	broad.mit.edu	GRCh37	1	183542320	183542320	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	rs147657171		TCGA-06-0879-01	TCGA-06-0879-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367535.3:c.609G>A		p.X203_splice	ENST00000367535	NM_000433.3	203	acG/acA	0	T:0		1			T	T	uc001gqj.3	protein_coding	YES	CCDS1356.1			609/1581									ovary(3)	3	c.(607-609)ACG>ACA			hmmpanther:PTHR15175,hmmpanther:PTHR15175:SF1	neutrophil cytosolic factor 2			T:0.0002	ENSP00000356505		15-May	1.65E-05					3.00E-05			rs147657171,COSM2152318	15-May	.		ENST00000367535	Transcript	1		cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	ENSG00000116701	g.chr1:183542320C>T	7661			LOW								--	--	1																																		NCF2_uc010pod.1_Silent_p.T158T|NCF2_uc010poe.1_Intron|NCF2_uc001gqk.3_Silent_p.T203T	0,1	1			p.T203T	NM_000433	NP_000424			0,1	NCF2_HUMAN	NCF2	HGNC	P19878	NCF2_HUMAN			Q0Q616_HUMAN,B1ALB7_HUMAN,B1ALB6_HUMAN		5	884	-			UPI0000000A07	203					SNV	NCF2,splice_region_variant,p.=,ENST00000413720,NM_001190794.1;NCF2,splice_region_variant,p.=,ENST00000367535,NM_000433.3;NCF2,splice_region_variant,p.=,ENST00000367536,NM_001127651.2;NCF2,intron_variant,,ENST00000418089,NM_001190789.1;NCF2,upstream_gene_variant,,ENST00000419402,;NCF2,upstream_gene_variant,,ENST00000420553,;SMG7,intron_variant,,ENST00000495321,;	uc001gqj.3	c.609G>A	861/2226	1	1			c.609G>A						1	SNP	c.(607-609)ACG>ACA	5	5			ovary(3)	3	Broad	neutrophil cytosolic factor 2			183542320		0.572	ENSG00000116701	10030	g.chr1:183542320C>T	cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding							344.890777	KEEP	54	69	-1	100	113	54	69	-1	348.898431	100	113	0.376667	1	0	0	0	0	0	0	1	0	--	--		0	T			NCF2_uc010pod.1_Silent_p.T158T|NCF2_uc010poe.1_Intron|NCF2_uc001gqk.3_Silent_p.T203T	75	GBM-06-0879-TP	p.T203T	C	TCCCACCTACCGTCGCCTTGC	NM_000433	NP_000424	183542320	P19878	NCF2_HUMAN	0			5	884	-	T	T			Silent	203						
NCF2	4688		GRCh37	1	183532621	183532621	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000367535.3:c.1126C>T	p.Arg376Trp	p.R376W	ENST00000367535	NM_000433.3	376	Cgg/Tgg	0																																																																																																																																																																																																																																												
NCKAP1L	3071	broad.mit.edu	GRCh37	12	54913072	54913072	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0878-01	TCGA-06-0878-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000293373.6:c.1581C>T	p.Ser527=	p.S527=	ENST00000293373	NM_005337.4	527	tcC/tcT	0		T:0	1	T:0		T	S	uc001sgc.3	protein_coding	YES	CCDS31813.1			1581/3384									ovary(3)|central_nervous_system(1)	4	c.(1579-1581)TCC>TCT			hmmpanther:PTHR12093:SF9,hmmpanther:PTHR12093,Pfam_domain:PF09735	NCK-associated protein 1-like		T:0		ENSP00000293373	T:0	16/31	1.65E-05					1.52E-05		7.25E-05	rs559364211,COSM2152256	16/31	.		ENST00000293373	Transcript		T:0.0002	actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	ENSG00000123338	g.chr12:54913072C>T	4862			LOW								--	--	1																																		NCKAP1L_uc010sox.1_Silent_p.S69S|NCKAP1L_uc010soy.1_Silent_p.S477S	0,1	1			p.S527S	NM_005337	NP_005328	T:0.001		0,1	NCKPL_HUMAN	NCKAP1L	HGNC	P55160	NCKPL_HUMAN			Q9BV52_HUMAN,Q5XG97_HUMAN,B2RA26_HUMAN		16	1660	+			UPI00001C0439	527					SNV	NCKAP1L,synonymous_variant,p.=,ENST00000293373,NM_005337.4;NCKAP1L,synonymous_variant,p.=,ENST00000545638,NM_001184976.1;NCKAP1L,downstream_gene_variant,,ENST00000552211,;NCKAP1L,3_prime_UTR_variant,,ENST00000548221,;NCKAP1L,non_coding_transcript_exon_variant,,ENST00000549451,;	uc001sgc.3	c.1581C>T	1660/4720	2	2			c.1581C>T						12	SNP	c.(1579-1581)TCC>TCT	43	43			ovary(3)|central_nervous_system(1)	4	Broad	NCK-associated protein 1-like			54913072		0.438	ENSG00000123338	10035	g.chr12:54913072C>T	actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity							281.858799	KEEP	56	43	-1	78	81	56	43	-1	284.365437	78	81	0.387665	1	0	0	0	0	0	0	1	0	--	--		0	T			NCKAP1L_uc010sox.1_Silent_p.S69S|NCKAP1L_uc010soy.1_Silent_p.S477S	74	GBM-06-0878-TP	p.S527S	C	TGCTGGACTCCGTAGAAAAAT	NM_005337	NP_005328	54913072	P55160	NCKPL_HUMAN	0			16	1660	+	T	T			Silent	527						
NCKAP1L	3071	broad.mit.edu	GRCh37	12	54914540	54914540	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01	TCGA-06-2565-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000293373.6:c.1688G>A	p.Arg563His	p.R563H	ENST00000293373	NM_005337.4	563	cGt/cAt	0			1			A	R/H	uc001sgc.3	protein_coding	YES	CCDS31813.1			1688/3384									ovary(3)|central_nervous_system(1)	4	c.(1687-1689)CGT>CAT			hmmpanther:PTHR12093:SF9,hmmpanther:PTHR12093,Pfam_domain:PF09735	NCK-associated protein 1-like				ENSP00000293373		17/31	7.41E-05		8.64E-05					0.000484	rs752125351,COSM3398862	17/31	common_variant		ENST00000293373	Transcript			actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	ENSG00000123338	g.chr12:54914540G>A	4862			MODERATE		2.505	medium	getma.org/?cm=msa&ty=f&p=NCKPL_HUMAN&rb=6&re=1125&var=R563H	getma.org/pdb.php?prot=NCKPL_HUMAN&from=6&to=1125&var=R563H	getma.org/?cm=var&var=hg19,12,54914540,G,A&fts=all	R563H	--	--	1																																		NCKAP1L_uc010sox.1_Missense_Mutation_p.R105H|NCKAP1L_uc010soy.1_Missense_Mutation_p.R513H	0,1	1		probably_damaging(0.995)	p.R563H	NM_005337	NP_005328		deleterious(0)	0,1	NCKPL_HUMAN	NCKAP1L	HGNC	P55160	NCKPL_HUMAN			Q9BV52_HUMAN,Q5XG97_HUMAN,B2RA26_HUMAN		17	1767	+			UPI00001C0439	563					SNV	NCKAP1L,missense_variant,p.Arg563His,ENST00000293373,NM_005337.4;NCKAP1L,missense_variant,p.Arg513His,ENST00000545638,NM_001184976.1;NCKAP1L,downstream_gene_variant,,ENST00000552211,;NCKAP1L,3_prime_UTR_variant,,ENST00000548221,;NCKAP1L,non_coding_transcript_exon_variant,,ENST00000549451,;	uc001sgc.3	c.1688G>A	1767/4720	1	1			c.1688G>A						12	SNP	c.(1687-1689)CGT>CAT	57	57			ovary(3)|central_nervous_system(1)	4	Broad	NCK-associated protein 1-like			54914540		0.458	ENSG00000123338	10035	g.chr12:54914540G>A	actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity							-89.999549	KEEP	13	18	-1	376	323	13	18	-1	61.773272	376	323	0.042836	1	0	0	0	0	1	0	0	0	--	--		0	A			NCKAP1L_uc010sox.1_Missense_Mutation_p.R105H|NCKAP1L_uc010soy.1_Missense_Mutation_p.R513H	88	GBM-06-2565-TP	p.R563H	G	GCCATGTTGCGTTATGCCATT	NM_005337	NP_005328	54914540	P55160	NCKPL_HUMAN	0			17	1767	+	A	A			Missense_Mutation	563						
NCKAP5	344148	broad.mit.edu	GRCh37	2	133541813	133541813	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0189-01	TCGA-06-0189-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409261.1:c.2571T>G	p.Phe857Leu	p.F857L	ENST00000409261	NM_207363.2	857	ttT/ttG	0			1			C	F/L	uc002ttp.2	protein_coding	YES	CCDS46418.1			2571/5730										0	c.(2569-2571)TTT>TTG			hmmpanther:PTHR21740,hmmpanther:PTHR21740:SF0	Nck-associated protein 5 isoform 1				ENSP00000387128		14/20									COSM3406874	14/20	.		ENST00000409261	Transcript					protein binding	ENSG00000176771	g.chr2:133541813A>C	29847			MODERATE		0.46	neutral	getma.org/?cm=msa&ty=f&p=NCKP5_HUMAN&rb=241&re=1908&var=F857L	NA	getma.org/?cm=var&var=hg19,2,133541813,A,C&fts=all	F857L	--	--	1																																		NCKAP5_uc002ttq.2_Intron	1	1		benign(0.228)	p.F857L	NM_207363	NP_997246		tolerated(0.5)	1	NCKP5_HUMAN	NCKAP5	HGNC	O14513	NCKP5_HUMAN			C9JYL7_HUMAN		14	2945	-			UPI0000E07A3F	857					SNV	NCKAP5,missense_variant,p.Phe857Leu,ENST00000409261,NM_207363.2;NCKAP5,missense_variant,p.Phe857Leu,ENST00000317721,;NCKAP5,intron_variant,,ENST00000409213,NM_207481.3;NCKAP5,intron_variant,,ENST00000405974,;NCKAP5,upstream_gene_variant,,ENST00000473859,;	uc002ttp.2	c.2571T>G	2945/7592	3	3			c.2571T>G						2	SNP	c.(2569-2571)TTT>TTG	60	60				0	Broad	Nck-associated protein 5 isoform 1			133541813		0.532	ENSG00000176771	10036	g.chr2:133541813A>C			protein binding							5.633799	KEEP	9	8	-1	107	108	9	8	-1	45.868781	107	108	0.074074	1	0	0	0	0	1	0	0	0	--	--		0	C			NCKAP5_uc002ttq.2_Intron	42	GBM-06-0189-TP	p.F857L	A	ATCGTAATTCAAAGAGGGGCC	NM_207363	NP_997246	133541813	O14513	NCKP5_HUMAN	0			14	2945	-	C	C			Missense_Mutation	857						
NCKAP5	0	broad.mit.edu	GRCh37	2	133541700	133541700	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01	TCGA-12-0616-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409261.1:c.2684C>T	p.Ser895Leu	p.S895L	ENST00000409261	NM_207363.2	895	tCa/tTa	0			1			A	S/L	uc002ttp.2	protein_coding	YES	CCDS46418.1			2684/5730										0	c.(2683-2685)TCA>TTA			hmmpanther:PTHR21740,hmmpanther:PTHR21740:SF0	Nck-associated protein 5 isoform 1				ENSP00000387128		14/20									COSM2153574	14/20	.		ENST00000409261	Transcript					protein binding	ENSG00000176771	g.chr2:133541700G>A	29847			MODERATE		0.145	neutral	getma.org/?cm=msa&ty=f&p=NCKP5_HUMAN&rb=241&re=1908&var=S895L	NA	getma.org/?cm=var&var=hg19,2,133541700,G,A&fts=all	S895L	--	--	1																																		NCKAP5_uc002ttq.2_Intron	1	1		benign(0.006)	p.S895L	NM_207363	NP_997246		tolerated(0.24)	1	NCKP5_HUMAN	NCKAP5	HGNC	O14513	NCKP5_HUMAN			C9JYL7_HUMAN		14	3058	-			UPI0000E07A3F	895					SNV	NCKAP5,missense_variant,p.Ser895Leu,ENST00000409261,NM_207363.2;NCKAP5,missense_variant,p.Ser895Leu,ENST00000317721,;NCKAP5,intron_variant,,ENST00000409213,NM_207481.3;NCKAP5,intron_variant,,ENST00000405974,;NCKAP5,upstream_gene_variant,,ENST00000473859,;	uc002ttp.2	c.2684C>T	3058/7592	2	2			c.2684C>T						2	SNP	c.(2683-2685)TCA>TTA	35	35				0	Broad	Nck-associated protein 5 isoform 1			133541700		0.607	ENSG00000176771	10036	g.chr2:133541700G>A			protein binding							162.153956	KEEP	33	35	-1	34	51	33	35	-1	162.543387	34	51	0.440945	1	0	0	0	0	1	0	0	0	--	--		0	A			NCKAP5_uc002ttq.2_Intron	118	GBM-12-0616-TP	p.S895L	G	CCTTGACCGTGACCCTGGAGT	NM_207363	NP_997246	133541700	O14513	NCKP5_HUMAN	0			14	3058	-	A	A			Missense_Mutation	895						
NCKAP5	344148		GRCh37	2	133547632	133547632	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000409261.1:c.1056C>T	p.Ser352=	p.S352=	ENST00000409261	NM_207363.2	352	tcC/tcT	0																																																																																																																																																																																																																																												
NCKIPSD	51517	broad.mit.edu	GRCh37	3	48719898	48719898	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294129.2:c.369C>G	p.Asp123Glu	p.D123E	ENST00000294129	NM_016453.3	123	gaC/gaG	0			1			C	D/E	uc003cun.2	protein_coding	YES	CCDS2776.1			369/2169										0	c.(367-369)GAC>GAG			hmmpanther:PTHR13357	NCK interacting protein with SH3 domain isoform				ENSP00000294129		13-Mar									COSM3408728,COSM3408729	13-Mar	.		ENST00000294129	Transcript			cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding	ENSG00000213672	g.chr3:48719898G>C	15486			MODERATE		0.985	low	getma.org/?cm=msa&ty=f&p=SPN90_HUMAN&rb=51&re=250&var=D123E	NA	getma.org/?cm=var&var=hg19,3,48719898,G,C&fts=all	D123E	--	--	1																																		NCKIPSD_uc003cum.2_Missense_Mutation_p.D123E|NCKIPSD_uc010hkh.1_Missense_Mutation_p.D123E	1,1	1		probably_damaging(0.984)	p.D123E	NM_016453	NP_057537		tolerated(0.16)	1,1	SPN90_HUMAN	NCKIPSD	HGNC	Q9NZQ3	SPN90_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	C9JMQ4_HUMAN,C9JC20_HUMAN		3	463	-			UPI0000135D86	123					SNV	NCKIPSD,missense_variant,p.Asp123Glu,ENST00000294129,NM_016453.3;NCKIPSD,missense_variant,p.Asp123Glu,ENST00000416649,NM_184231.2;NCKIPSD,missense_variant,p.Asp123Glu,ENST00000341520,;NCKIPSD,missense_variant,p.Asp123Glu,ENST00000439518,;NCKIPSD,missense_variant,p.Asp7Glu,ENST00000426678,;NCKIPSD,missense_variant,p.Asp45Glu,ENST00000453349,;NCKIPSD,upstream_gene_variant,,ENST00000415281,;NCKIPSD,upstream_gene_variant,,ENST00000413374,;NCKIPSD,3_prime_UTR_variant,,ENST00000454134,;NCKIPSD,upstream_gene_variant,,ENST00000470006,;	uc003cun.2	c.369C>G	489/2989	3	3			c.369C>G						3	SNP	c.(367-369)GAC>GAG	60	60				0	Broad	NCK interacting protein with SH3 domain isoform			48719898		0.592	ENSG00000213672	10038	g.chr3:48719898G>C	cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			56			56	-25.941848	KEEP	1	4	-1	65	95	1	4	-1	11.669617	65	95	0.031847	1	0	0	0	0	1	0	0	0	--	--		0	C			NCKIPSD_uc003cum.2_Missense_Mutation_p.D123E|NCKIPSD_uc010hkh.1_Missense_Mutation_p.D123E	102	GBM-06-5858-TP	p.D123E	G	CCAAGTGGTGGTCACTGGTTG	NM_016453	NP_057537	48719898	Q9NZQ3	SPN90_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	3	463	-	C	C			Missense_Mutation	123						
NCL	0	broad.mit.edu	GRCh37	2	232325239	232325239	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-4068-01	TCGA-19-4068-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322723.4:c.848A>G	p.Glu283Gly	p.E283G	ENST00000322723	NM_005381.2	283	gAa/gGa	0			1			C	E/G	uc002vru.2	protein_coding	YES	CCDS33397.1			848/2133									ovary(2)|pancreas(1)	3	c.(847-849)GAA>GGA			Low_complexity_(Seg):seg	nucleolin				ENSP00000318195		14-May									COSM2156454	14-May	.		ENST00000322723	Transcript			angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	ENSG00000115053	g.chr2:232325239T>C	7667			MODERATE		2.295	medium	getma.org/?cm=msa&ty=f&p=NUCL_HUMAN&rb=168&re=308&var=E283G	NA	getma.org/?cm=var&var=hg19,2,232325239,T,C&fts=all	E283G	--	--	1																																		SNORD82_uc010fxw.1_5'Flank	1	1		possibly_damaging(0.905)	p.E283G	NM_005381	NP_005372			1	NUCL_HUMAN	NCL	HGNC	P19338	NUCL_HUMAN		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)	C9JYW2_HUMAN,C9JWL1_HUMAN,C9JLB1_HUMAN,C9J1H7_HUMAN,B3KM80_HUMAN		5	989	-		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)	UPI0000456F25	283					SNV	NCL,missense_variant,p.Glu283Gly,ENST00000322723,NM_005381.2;NCL,downstream_gene_variant,,ENST00000453992,;NCL,upstream_gene_variant,,ENST00000356936,;NCL,downstream_gene_variant,,ENST00000454824,;NCL,downstream_gene_variant,,ENST00000417652,;NCL,downstream_gene_variant,,ENST00000436894,;SNORA75,upstream_gene_variant,,ENST00000384158,NR_002921.1;SNORD20,upstream_gene_variant,,ENST00000384550,NR_002908.1;SNORD82,upstream_gene_variant,,ENST00000365530,NR_004398.1;NCL,non_coding_transcript_exon_variant,,ENST00000461347,;NCL,non_coding_transcript_exon_variant,,ENST00000494618,;NCL,upstream_gene_variant,,ENST00000466274,;NCL,downstream_gene_variant,,ENST00000484328,;	uc002vru.2	c.848A>G	1089/4034	3	3			c.848A>G						2	SNP	c.(847-849)GAA>GGA	58	58			ovary(2)|pancreas(1)	3	Broad	nucleolin			232325239		0.433	ENSG00000115053	10039	g.chr2:232325239T>C	angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding							458.287036	KEEP	64	89	-1	107	143	64	89	-1	462.724662	107	143	0.382514	1	0	0	0	0	1	0	0	0	--	--		0	C			SNORD82_uc010fxw.1_5'Flank	168	GBM-19-4068-TP	p.E283G	T	TTTGGCCATTTCCTTCTTTCG	NM_005381	NP_005372	232325239	P19338	NUCL_HUMAN	0		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)	5	989	-	C	C		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)	Missense_Mutation	283						
NCL	0	broad.mit.edu	GRCh37	2	232326477	232326477	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-27-1833-01	TCGA-27-1833-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322723.4:c.387C>A	p.Ile129=	p.I129=	ENST00000322723	NM_005381.2	129	atC/atA	0			1			T	I	uc002vru.2	protein_coding	YES	CCDS33397.1			387/2133									ovary(2)|pancreas(1)	3	c.(385-387)ATC>ATA			Low_complexity_(Seg):seg	nucleolin				ENSP00000318195		14-Mar									COSM3407652	14-Mar	.		ENST00000322723	Transcript			angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	ENSG00000115053	g.chr2:232326477G>T	7667			LOW								--	--	1																																		SNORD82_uc010fxw.1_5'Flank	1	1			p.I129I	NM_005381	NP_005372			1	NUCL_HUMAN	NCL	HGNC	P19338	NUCL_HUMAN		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)	C9JYW2_HUMAN,C9JWL1_HUMAN,C9JLB1_HUMAN,C9J1H7_HUMAN,B3KM80_HUMAN		3	528	-		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)	UPI0000456F25	129			8.|8 X 8 AA tandem repeats of X-T-P-X-K-K-X- X.		SNV	NCL,synonymous_variant,p.=,ENST00000322723,NM_005381.2;NCL,synonymous_variant,p.=,ENST00000453992,;NCL,synonymous_variant,p.=,ENST00000454824,;NCL,synonymous_variant,p.=,ENST00000417652,;NCL,synonymous_variant,p.=,ENST00000436894,;NCL,upstream_gene_variant,,ENST00000356936,;SNORD82,upstream_gene_variant,,ENST00000365530,NR_004398.1;NCL,non_coding_transcript_exon_variant,,ENST00000461347,;NCL,upstream_gene_variant,,ENST00000494618,;NCL,upstream_gene_variant,,ENST00000466274,;NCL,downstream_gene_variant,,ENST00000484328,;	uc002vru.2	c.387C>A	628/4034	2	2			c.387C>A						2	SNP	c.(385-387)ATC>ATA	26	26			ovary(2)|pancreas(1)	3	Broad	nucleolin			232326477		0.393	ENSG00000115053	10039	g.chr2:232326477G>T	angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding							34.649979	KEEP	38	27	0.584615385	105	91	38	27	0.584615385	55.246707	105	91	0.146199	1	0	0	0	0	0	0	1	0	--	--		0	T			SNORD82_uc010fxw.1_5'Flank	192	GBM-27-1833-TP	p.I129I	G	CCTTGGCTGGGATGGCAGCAC	NM_005381	NP_005372	232326477	P19338	NUCL_HUMAN	0		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)	3	528	-	T	T		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)	Silent	129			8.|8 X 8 AA tandem repeats of X-T-P-X-K-K-X- X.			
NCMAP	0	broad.mit.edu	GRCh37	1	24927454	24927454	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs142867139	byFrequency	TCGA-12-0616-01	TCGA-12-0616-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374392.2:c.106G>A	p.Val36Ile	p.V36I	ENST00000374392	NM_001010980.4	36	Gtt/Att	0	A:0.0009	A:0	1	A:0.0029		A	V/I	uc001bjk.1	protein_coding	YES	CCDS30632.1			106/309										0	c.(106-108)GTT>ATT			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	chromosome 1 open reading frame 130		A:0	A:0.0015	ENSP00000363513	A:0	4-Mar	0.000914	0.00048	8.64E-05		0.000454	0.00145	0.0011	0.000242	rs142867139,COSM2153579	4-Mar	common_variant		ENST00000374392	Transcript		A:0.0004		integral to membrane		ENSG00000184454	g.chr1:24927454G>A	29332			MODERATE		-0.425	neutral	getma.org/?cm=msa&ty=f&p=CA130_HUMAN&rb=1&re=100&var=V36I	NA	getma.org/?cm=var&var=hg19,1,24927454,G,A&fts=all	V36I	--	--	1																																			0,1	1		benign(0.001)	p.V36I	NM_001010980	NP_001010980	A:0	tolerated(1)	0,1	NCMAP_HUMAN	NCMAP	HGNC	Q5T1S8	CA130_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0439)|OV - Ovarian serous cystadenocarcinoma(117;1.48e-24)|Colorectal(126;6.93e-08)|COAD - Colon adenocarcinoma(152;3.69e-06)|GBM - Glioblastoma multiforme(114;0.00036)|BRCA - Breast invasive adenocarcinoma(304;0.00189)|KIRC - Kidney renal clear cell carcinoma(1967;0.00382)|STAD - Stomach adenocarcinoma(196;0.00521)|READ - Rectum adenocarcinoma(331;0.0659)|Lung(427;0.144)			3	172	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0119)|all_lung(284;0.0154)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0646)	UPI00001991A6	36			Poly-Val.|Helical; (Potential).		SNV	NCMAP,missense_variant,p.Val36Ile,ENST00000374392,NM_001010980.4;NCMAP,non_coding_transcript_exon_variant,,ENST00000486262,;	uc001bjk.1	c.106G>A	172/3953	2	2			c.106G>A						1	SNP	c.(106-108)GTT>ATT	47	47				0	Broad	chromosome 1 open reading frame 130			24927454		0.552	ENSG00000184454	1954	g.chr1:24927454G>A		integral to membrane								118.265112	KEEP	28	37	-1	65	66	28	37	-1	121.339968	65	66	0.330579	1	0	0	0	0	1	0	0	0	--	--		0	A				118	GBM-12-0616-TP	p.V36I	G	TGTTGCTGCCGTTGTGGTGGT	NM_001010980	NP_001010980	24927454	Q5T1S8	CA130_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0439)|OV - Ovarian serous cystadenocarcinoma(117;1.48e-24)|Colorectal(126;6.93e-08)|COAD - Colon adenocarcinoma(152;3.69e-06)|GBM - Glioblastoma multiforme(114;0.00036)|BRCA - Breast invasive adenocarcinoma(304;0.00189)|KIRC - Kidney renal clear cell carcinoma(1967;0.00382)|STAD - Stomach adenocarcinoma(196;0.00521)|READ - Rectum adenocarcinoma(331;0.0659)|Lung(427;0.144)	3	172	+	A	A		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0119)|all_lung(284;0.0154)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0646)	Missense_Mutation	36			Poly-Val.|Helical; (Potential).			
NCOA1	0	broad.mit.edu	GRCh37	2	24929877	24929877	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000348332.3:c.1538C>T	p.Ser513Leu	p.S513L	ENST00000348332	NM_147233.2	513	tCg/tTg	0			1			T	S/L	uc002rfk.2	protein_coding		CCDS1712.1			1538/4326	T		PAX3		alveolar rhadomyosarcoma		PAX3/NCOA1(8)		soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	c.(1537-1539)TCG>TTG			PIRSF_domain:PIRSF038181,hmmpanther:PTHR10684:SF1,hmmpanther:PTHR10684	nuclear receptor coactivator 1 isoform 1				ENSP00000320940		21-Nov	2.47E-05	0.000295							rs778193446,COSM1258835,COSM1258836	21-Nov	.		ENST00000348332	Transcript						ENSG00000084676	g.chr2:24929877C>T	7668			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=NCOA1_HUMAN&rb=384&re=583&var=S513L	NA	getma.org/?cm=var&var=hg19,2,24929877,C,T&fts=all	S513L	--	--	1																																		NCOA1_uc010eye.2_Missense_Mutation_p.S513L|NCOA1_uc002rfi.2_Missense_Mutation_p.S362L|NCOA1_uc002rfj.2_Missense_Mutation_p.S513L|NCOA1_uc002rfl.2_Missense_Mutation_p.S513L	0,1,1			benign(0.019)	p.S513L	NM_003743	NP_003734		tolerated(0.08)	0,1,1	NCOA1_HUMAN	NCOA1	HGNC	Q15788	NCOA1_HUMAN					11	1796	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		UPI000006E1F7	513			Interaction with STAT3.|Ser-rich.		SNV	NCOA1,missense_variant,p.Ser513Leu,ENST00000405141,;NCOA1,missense_variant,p.Ser513Leu,ENST00000406961,;NCOA1,missense_variant,p.Ser513Leu,ENST00000288599,NM_147223.2;NCOA1,missense_variant,p.Ser513Leu,ENST00000348332,NM_147233.2,NM_003743.4;NCOA1,missense_variant,p.Ser513Leu,ENST00000395856,;NCOA1,missense_variant,p.Ser362Leu,ENST00000407230,;NCOA1,missense_variant,p.Ser513Leu,ENST00000538539,;NCOA1,upstream_gene_variant,,ENST00000486198,;	uc002rfk.2	c.1538C>T	1796/6895	2	2			c.1538C>T	T		PAX3		alveolar rhadomyosarcoma	2	SNP	c.(1537-1539)TCG>TTG	32	32	PAX3/NCOA1(8)		soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Broad	nuclear receptor coactivator 1 isoform 1			24929877		0.418	ENSG00000084676	10041	g.chr2:24929877C>T						334			334	100.216848	KEEP	22	18	-1	60	43	22	18	-1	105.633673	60	43	0.284615	1	0	0	0	0	1	0	0	0	--	--		0	T			NCOA1_uc010eye.2_Missense_Mutation_p.S513L|NCOA1_uc002rfi.2_Missense_Mutation_p.S362L|NCOA1_uc002rfj.2_Missense_Mutation_p.S513L|NCOA1_uc002rfl.2_Missense_Mutation_p.S513L	159	GBM-19-1390-TP	p.S513L	C	CCTAATATTTCGACATTAAGC	NM_003743	NP_003734	24929877	Q15788	NCOA1_HUMAN	0			11	1796	+	T	T	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Missense_Mutation	513			Interaction with STAT3.|Ser-rich.			
NCOA2	0	broad.mit.edu	GRCh37	8	71068332	71068338	+	frameshift_variant	Frame_Shift_Del	DEL	ATCTTTA	ATCTTTA	-			TCGA-14-1395-01	TCGA-14-1395-01	ATCTTTA	ATCTTTA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000452400.2:c.2262_2268delTAAAGAT	p.Lys755LeufsTer6	p.K755Lfs*6	ENST00000452400	NM_006540.2	754	acTAAAGAT/ac	0			1			-	TKD/X	uc003xyn.1	protein_coding	YES	CCDS47872.1			2262-2268/4395	T		RUNXBP2		AML		PAX3/NCOA2(4)		lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	c.(2260-2268)ACTAAAGATfs			PIRSF_domain:PIRSF038181,hmmpanther:PTHR10684,hmmpanther:PTHR10684:SF2	nuclear receptor coactivator 2				ENSP00000399968		23-Nov										23-Nov	.		ENST00000452400	Transcript			cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	ENSG00000140396	g.chr8:71068332_71068338delATCTTTA	7669			HIGH								--	--	1																																				1			p.T754fs	NM_006540	NP_006531				NCOA2_HUMAN	NCOA2	HGNC	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)				11	2424_2430	-	Breast(64;0.201)		UPI000012FE42	754_756					deletion	NCOA2,frameshift_variant,p.Lys755LeufsTer6,ENST00000452400,NM_006540.2;NCOA2,non_coding_transcript_exon_variant,,ENST00000524223,;NCOA2,frameshift_variant,p.Lys755LeufsTer6,ENST00000518287,;	uc003xyn.1	c.2262_2268delTAAAGAT	2444-2450/8447	5	5			c.2262_2268delTAAAGAT	T		RUNXBP2		AML	8	DEL	c.(2260-2268)ACTAAAGATfs	62	62	PAX3/NCOA2(4)		lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Broad	nuclear receptor coactivator 2			71068338		0.411	ENSG00000140396	10042	g.chr8:71068332_71068338delATCTTTA	cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity			476			476														0.29	1	1	0	1	0	0	0	0	0	--	--		0	-				144	GBM-14-1395-TP	p.T754fs	ATCTTTA	GTAAACCAATATCTTTAGTATCATCTT	NM_006540	NP_006531	71068332	Q15596	NCOA2_HUMAN	0	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		11	2424_2430	-	-	-	Breast(64;0.201)		Frame_Shift_Del	754_756						
NCOA2	0	broad.mit.edu	GRCh37	8	71069277	71069277	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-19-2629-01	TCGA-19-2629-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000452400.2:c.1323T>C	p.Phe441=	p.F441=	ENST00000452400	NM_006540.2	441	ttT/ttC	0			1			G	F	uc003xyn.1	protein_coding	YES	CCDS47872.1			1323/4395	T		RUNXBP2		AML		PAX3/NCOA2(4)		lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	c.(1321-1323)TTT>TTC			PIRSF_domain:PIRSF038181,hmmpanther:PTHR10684,hmmpanther:PTHR10684:SF2,Low_complexity_(Seg):seg	nuclear receptor coactivator 2				ENSP00000399968		23-Nov									COSM3413106	23-Nov	.		ENST00000452400	Transcript			cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	ENSG00000140396	g.chr8:71069277A>G	7669			LOW								--	--	1																																			1	1			p.F441F	NM_006540	NP_006531			1	NCOA2_HUMAN	NCOA2	HGNC	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)				11	1485	-	Breast(64;0.201)		UPI000012FE42	441					SNV	NCOA2,synonymous_variant,p.=,ENST00000452400,NM_006540.2;NCOA2,intron_variant,,ENST00000524223,;NCOA2,synonymous_variant,p.=,ENST00000518287,;	uc003xyn.1	c.1323T>C	1505/8447	4	4			c.1323T>C	T		RUNXBP2		AML	8	SNP	c.(1321-1323)TTT>TTC	26	26	PAX3/NCOA2(4)		lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Broad	nuclear receptor coactivator 2			71069277		0.502	ENSG00000140396	10042	g.chr8:71069277A>G	cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity			476			476	22.405725	KEEP	11	4	-1	49	45	11	4	-1	35.725685	49	45	0.13	1	0	0	0	0	0	0	1	0	--	--		0	G				166	GBM-19-2629-TP	p.F441F	A	CAGAACCACCAAACCTGCCCA	NM_006540	NP_006531	71069277	Q15596	NCOA2_HUMAN	0	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		11	1485	-	G	G	Breast(64;0.201)		Silent	441						
NCOA2	10499		GRCh37	8	71057069	71057069	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000452400.2:c.2620C>T	p.Arg874Ter	p.R874*	ENST00000452400	NM_006540.2	874	Cga/Tga	0																																																																																																																																																																																																																																												
NCOA2	10499		GRCh37	8	71057034	71057034	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000452400.2:c.2655G>C	p.Gln885His	p.Q885H	ENST00000452400	NM_006540.2	885	caG/caC	0																																																																																																																																																																																																																																												
NCOA3	8202	broad.mit.edu	GRCh37	20	46271028	46271028	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0221-01	TCGA-06-0221-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371998.3:c.3152G>T	p.Arg1051Ile	p.R1051I	ENST00000371998		1051	aGa/aTa	0			1			T	R/I	uc002xtk.2	protein_coding	YES	CCDS13407.1			3152/4275									ovary(3)|lung(1)|skin(1)	5	c.(3151-3153)AGA>ATA			Gene3D:1kbhA00,Pfam_domain:PF08815,PIRSF_domain:PIRSF038181,hmmpanther:PTHR10684,hmmpanther:PTHR10684:SF3,Superfamily_domains:SSF69125	nuclear receptor coactivator 3 isoform a				ENSP00000361066		17/23									COSM3405165	17/23	.		ENST00000371998	Transcript			androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	ENSG00000124151	g.chr20:46271028G>T	7670			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=NCOA3_HUMAN&rb=1045&re=1095&var=R1051I	getma.org/pdb.php?prot=NCOA3_HUMAN&from=1045&to=1095&var=R1051I	getma.org/?cm=var&var=hg19,20,46271028,G,T&fts=all	R1051I	--	--	1																																		NCOA3_uc010ght.1_Missense_Mutation_p.R1046I|NCOA3_uc002xtl.2_Missense_Mutation_p.R1051I|NCOA3_uc002xtm.2_Missense_Mutation_p.R1051I|NCOA3_uc002xtn.2_Missense_Mutation_p.R1051I|NCOA3_uc010zyc.1_Missense_Mutation_p.R846I	1	1		possibly_damaging(0.461)	p.R1051I	NM_181659	NP_858045		tolerated(0.06)	1	NCOA3_HUMAN	NCOA3	HGNC	Q9Y6Q9	NCOA3_HUMAN			Q569F6_HUMAN,B4DYT5_HUMAN		17	3357	+			UPI000012FE45	1051			Interaction with CREBBP.		SNV	NCOA3,missense_variant,p.Arg1051Ile,ENST00000372004,NM_006534.3,NM_181659.2,NM_001174088.1,NM_001174087.1;NCOA3,missense_variant,p.Arg981Ile,ENST00000341724,;NCOA3,missense_variant,p.Arg1046Ile,ENST00000371997,;NCOA3,missense_variant,p.Arg1051Ile,ENST00000371998,;	uc002xtk.2	c.3152G>T	3343/4668	1	1			c.3152G>T						20	SNP	c.(3151-3153)AGA>ATA	3	3			ovary(3)|lung(1)|skin(1)	5	Broad	nuclear receptor coactivator 3 isoform a			46271028		0.473	ENSG00000124151	10043	g.chr20:46271028G>T	androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			361			361	-4.190273	KEEP	7	4	0.636363636	63	84	7	4	0.636363636	23.346837	63	84	0.074324	1	0	0	0	0	1	0	0	0	--	--		0	T			NCOA3_uc010ght.1_Missense_Mutation_p.R1046I|NCOA3_uc002xtl.2_Missense_Mutation_p.R1051I|NCOA3_uc002xtm.2_Missense_Mutation_p.R1051I|NCOA3_uc002xtn.2_Missense_Mutation_p.R1051I|NCOA3_uc010zyc.1_Missense_Mutation_p.R846I	53	GBM-06-0221-TP	p.R1051I	G	AGTGACGAAAGAGCATTATTG	NM_181659	NP_858045	46271028	Q9Y6Q9	NCOA3_HUMAN	0			17	3357	+	T	T			Missense_Mutation	1051			Interaction with CREBBP.			
NCOA3	0	broad.mit.edu	GRCh37	20	46264906	46264906	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5951-01	TCGA-19-5951-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371998.3:c.1776C>T	p.His592=	p.H592=	ENST00000371998		592	caC/caT	0			1			T	H	uc002xtk.2	protein_coding	YES	CCDS13407.1			1776/4275									ovary(3)|lung(1)|skin(1)	5	c.(1774-1776)CAC>CAT			PIRSF_domain:PIRSF038181,hmmpanther:PTHR10684,hmmpanther:PTHR10684:SF3	nuclear receptor coactivator 3 isoform a				ENSP00000361066		23-Dec									COSM2156613	23-Dec	.		ENST00000371998	Transcript			androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	ENSG00000124151	g.chr20:46264906C>T	7670			LOW								--	--	1																																		NCOA3_uc010ght.1_Silent_p.H602H|NCOA3_uc002xtl.2_Silent_p.H592H|NCOA3_uc002xtm.2_Silent_p.H592H|NCOA3_uc002xtn.2_Silent_p.H592H|NCOA3_uc010zyc.1_Silent_p.H387H	1	1			p.H592H	NM_181659	NP_858045			1	NCOA3_HUMAN	NCOA3	HGNC	Q9Y6Q9	NCOA3_HUMAN			Q569F6_HUMAN,B4DYT5_HUMAN		12	1981	+			UPI000012FE45	592			Ser-rich.		SNV	NCOA3,synonymous_variant,p.=,ENST00000372004,NM_006534.3,NM_181659.2,NM_001174088.1,NM_001174087.1;NCOA3,synonymous_variant,p.=,ENST00000341724,;NCOA3,synonymous_variant,p.=,ENST00000371997,;NCOA3,synonymous_variant,p.=,ENST00000371998,;RP5-1049G16.4,upstream_gene_variant,,ENST00000448675,;	uc002xtk.2	c.1776C>T	1967/4668	1	1			c.1776C>T						20	SNP	c.(1774-1776)CAC>CAT	4	4			ovary(3)|lung(1)|skin(1)	5	Broad	nuclear receptor coactivator 3 isoform a			46264906		0.423	ENSG00000124151	10043	g.chr20:46264906C>T	androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			361			361	116.902258	KEEP	20	20	-1	30	35	20	20	-1	117.795754	30	35	0.397959	1	0	0	0	0	0	0	1	0	--	--		0	T			NCOA3_uc010ght.1_Silent_p.H602H|NCOA3_uc002xtl.2_Silent_p.H592H|NCOA3_uc002xtm.2_Silent_p.H592H|NCOA3_uc002xtn.2_Silent_p.H592H|NCOA3_uc010zyc.1_Silent_p.H387H	171	GBM-19-5951-TP	p.H592H	C	GCAGAGATCACCTCAGTGACA	NM_181659	NP_858045	46264906	Q9Y6Q9	NCOA3_HUMAN	0			12	1981	+	T	T			Silent	592			Ser-rich.			
NCOA5	0	broad.mit.edu	GRCh37	20	44698964	44698964	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01	TCGA-14-0789-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290231.6:c.250G>A	p.Val84Met	p.V84M	ENST00000290231	NM_020967.2	84	Gtg/Atg	0			1			T	V/M	uc002xrd.2	protein_coding	YES	CCDS13392.1			250/1740									central_nervous_system(1)|skin(1)	2	c.(250-252)GTG>ATG			Low_complexity_(Seg):seg,hmmpanther:PTHR23295:SF3,hmmpanther:PTHR23295	nuclear receptor coactivator 5				ENSP00000290231		8-Mar	2.47E-05					4.50E-05			rs777887637,COSM3405159	8-Mar	.		ENST00000290231	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	ENSG00000124160	g.chr20:44698964C>T	15909			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=NCOA5_HUMAN&rb=1&re=113&var=V84M	NA	getma.org/?cm=var&var=hg19,20,44698964,C,T&fts=all	V84M	--	--	1																																		NCOA5_uc002xrc.2_Translation_Start_Site|NCOA5_uc002xre.2_Missense_Mutation_p.V84M	0,1	1		unknown(0)	p.V84M	NM_020967	NP_066018		tolerated_low_confidence(0.26)	0,1	NCOA5_HUMAN	NCOA5	HGNC	Q9HCD5	NCOA5_HUMAN			Q5JY17_HUMAN		2	778	-		Myeloproliferative disorder(115;0.0122)	UPI000000D7B2	84			Arg/Asp-rich (mixed charge).|Transcription repression.		SNV	NCOA5,missense_variant,p.Val84Met,ENST00000290231,NM_020967.2;NCOA5,5_prime_UTR_variant,,ENST00000372291,;	uc002xrd.2	c.250G>A	415/3220	1	1			c.250G>A						20	SNP	c.(250-252)GTG>ATG	15	15			central_nervous_system(1)|skin(1)	2	Broad	nuclear receptor coactivator 5			44698964		0.532	ENSG00000124160	10045	g.chr20:44698964C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding							167.010516	KEEP	32	35	-1	86	79	32	35	-1	175.32739	86	79	0.293578	1	0	0	0	0	1	0	0	0	--	--		0	T			NCOA5_uc002xrc.2_Translation_Start_Site|NCOA5_uc002xre.2_Missense_Mutation_p.V84M	136	GBM-14-0789-TP	p.V84M	C	AGATCCCTCACGTCCCGAACG	NM_020967	NP_066018	44698964	Q9HCD5	NCOA5_HUMAN	0			2	778	-	T	T		Myeloproliferative disorder(115;0.0122)	Missense_Mutation	84			Arg/Asp-rich (mixed charge).|Transcription repression.			
NCOA5	0	broad.mit.edu	GRCh37	20	44693706	44693706	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs150367556		TCGA-76-6191-01	TCGA-76-6191-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290231.6:c.791G>A	p.Arg264His	p.R264H	ENST00000290231	NM_020967.2	264	cGc/cAc	0	T:0.0002		1			T	R/H	uc002xrd.2	protein_coding	YES	CCDS13392.1			791/1740									central_nervous_system(1)|skin(1)	2	c.(790-792)CGC>CAC			hmmpanther:PTHR23295:SF3,hmmpanther:PTHR23295,Gene3D:3.40.50.800,Superfamily_domains:SSF52954	nuclear receptor coactivator 5			T:0	ENSP00000290231		8-Jun	1.65E-05	9.61E-05				1.50E-05			rs150367556	8-Jun	.		ENST00000290231	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	ENSG00000124160	g.chr20:44693706C>T	15909			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=NCOA5_HUMAN&rb=115&re=293&var=R264H	getma.org/pdb.php?prot=NCOA5_HUMAN&from=115&to=293&var=R264H	getma.org/?cm=var&var=hg19,20,44693706,C,T&fts=all	R264H	--	--	1																																		NCOA5_uc002xrc.2_Missense_Mutation_p.R152H|NCOA5_uc002xre.2_Missense_Mutation_p.R264H		1		benign(0.164)	p.R264H	NM_020967	NP_066018		tolerated(0.05)		NCOA5_HUMAN	NCOA5	HGNC	Q9HCD5	NCOA5_HUMAN			Q5JY17_HUMAN		5	1319	-		Myeloproliferative disorder(115;0.0122)	UPI000000D7B2	264					SNV	NCOA5,missense_variant,p.Arg264His,ENST00000290231,NM_020967.2;SLC12A5,downstream_gene_variant,,ENST00000243964,NM_020708.4;NCOA5,downstream_gene_variant,,ENST00000372291,;	uc002xrd.2	c.791G>A	956/3220	2	2			c.791G>A						20	SNP	c.(790-792)CGC>CAC	35	35			central_nervous_system(1)|skin(1)	2	Broad	nuclear receptor coactivator 5			44693706		0.473	ENSG00000124160	10045	g.chr20:44693706C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding							138.674586	KEEP	30	23	-1	38	40	30	23	-1	139.646573	38	40	0.403361	1	0	0	0	0	1	0	0	0	--	--		0	T			NCOA5_uc002xrc.2_Missense_Mutation_p.R152H|NCOA5_uc002xre.2_Missense_Mutation_p.R264H	274	GBM-76-6191-TP	p.R264H	C	TGTGCAGGAGCGGTGAATCTG	NM_020967	NP_066018	44693706	Q9HCD5	NCOA5_HUMAN	0			5	1319	-	T	T		Myeloproliferative disorder(115;0.0122)	Missense_Mutation	264						
NCOA6	23054	broad.mit.edu	GRCh37	20	33364240	33364240	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-5859-01	TCGA-06-5859-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374796.2:c.247C>A	p.Leu83Ile	p.L83I	ENST00000374796		83	Cta/Ata	0			1			T	L/I	uc002xav.2	protein_coding		CCDS13241.1			247/6192									ovary(3)|breast(3)|central_nervous_system(1)	7	c.(247-249)CTA>ATA			hmmpanther:PTHR15690:SF0,hmmpanther:PTHR15690,Pfam_domain:PF13820	nuclear receptor coactivator 6				ENSP00000351894		15-Apr									COSM2153387	15-Apr	.		ENST00000359003	Transcript			brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	ENSG00000198646	g.chr20:33364240G>T	15936			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=NCOA6_HUMAN&rb=45&re=195&var=L83I	NA	getma.org/?cm=var&var=hg19,20,33364240,G,T&fts=all	L83I	--	--	1																																		NCOA6_uc002xaw.2_Missense_Mutation_p.L83I|NCOA6_uc010gew.1_Missense_Mutation_p.L83I	1			probably_damaging(0.994)	p.L83I	NM_014071	NP_054790			1	NCOA6_HUMAN	NCOA6	HGNC	Q14686	NCOA6_HUMAN					5	2818	-			UPI000013C634	83			TBP/GTF2A-binding region.|NCOA1-binding region.|CREBBP-binding region.		SNV	NCOA6,missense_variant,p.Leu83Ile,ENST00000374796,;NCOA6,missense_variant,p.Leu83Ile,ENST00000359003,NM_014071.3,NM_001242539.1;	uc002xav.2	c.247C>A	588/7081	2	2			c.247C>A						20	SNP	c.(247-249)CTA>ATA	20	20			ovary(3)|breast(3)|central_nervous_system(1)	7	Broad	nuclear receptor coactivator 6			33364240		0.438	ENSG00000198646	10046	g.chr20:33364240G>T	brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding							85.661408	KEEP	17	23	0.425	30	40	17	23	0.425	87.841998	30	40	0.336957	1	0	0	0	0	1	0	0	0	--	--		0	T			NCOA6_uc002xaw.2_Missense_Mutation_p.L83I|NCOA6_uc010gew.1_Missense_Mutation_p.L83I	103	GBM-06-5859-TP	p.L83I	G	TGTACTTTTAGCTTGCTGGAC	NM_014071	NP_054790	33364240	Q14686	NCOA6_HUMAN	0			5	2818	-	T	T			Missense_Mutation	83			TBP/GTF2A-binding region.|NCOA1-binding region.|CREBBP-binding region.			
NCOA7	0	broad.mit.edu	GRCh37	6	126210501	126210501	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-26-1442-01	TCGA-26-1442-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368357.3:c.1301A>T	p.Asp434Val	p.D434V	ENST00000368357	NM_001199619.1	434	gAc/gTc	0			1			T	D/V	uc010kes.2	protein_coding	YES	CCDS5132.1			1301/2829									lung(2)|ovary(1)	3	c.(1300-1302)GAC>GTC			hmmpanther:PTHR23354:SF68,hmmpanther:PTHR23354	nuclear receptor coactivator 7 isoform 1				ENSP00000357341		17-Oct									COSM3410570	17-Oct	.		ENST00000368357	Transcript			cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	ENSG00000111912	g.chr6:126210501A>T	21081			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=NCOA7_HUMAN&rb=296&re=639&var=D434V	NA	getma.org/?cm=var&var=hg19,6,126210501,A,T&fts=all	D434V	--	--	1																																		NCOA7_uc003qae.3_Missense_Mutation_p.D434V|NCOA7_uc003qah.2_Missense_Mutation_p.D423V|NCOA7_uc003qai.2_Missense_Mutation_p.D434V|NCOA7_uc010ket.2_Missense_Mutation_p.D319V	1	1		benign(0.009)	p.D434V	NM_181782	NP_861447		tolerated_low_confidence(0.07)	1	NCOA7_HUMAN	NCOA7	HGNC	Q8NI08	NCOA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)	Q8N3C8_HUMAN,Q5TF98_HUMAN,Q5TF97_HUMAN,Q5TF96_HUMAN,Q3ZTS4_HUMAN		11	1750	+			UPI00001AE66D	434					SNV	NCOA7,missense_variant,p.Asp434Val,ENST00000368357,NM_001199619.1,NM_001199620.1;NCOA7,missense_variant,p.Asp434Val,ENST00000392477,NM_001122842.2,NM_181782.4;NCOA7,missense_variant,p.Asp319Val,ENST00000229634,NM_001199621.1;NCOA7,missense_variant,p.Asp232Val,ENST00000413085,;	uc010kes.2	c.1301A>T	1653/5521	1	1			c.1301A>T						6	SNP	c.(1300-1302)GAC>GTC	12	12			lung(2)|ovary(1)	3	Broad	nuclear receptor coactivator 7 isoform 1			126210501		0.423	ENSG00000111912	10047	g.chr6:126210501A>T	cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding							9.559321	KEEP	3	2	-1	8	16	3	2	-1	11.859305	8	16	0.192308	1	0	0	0	0	1	0	0	0	--	--		0	T			NCOA7_uc003qae.3_Missense_Mutation_p.D434V|NCOA7_uc003qah.2_Missense_Mutation_p.D423V|NCOA7_uc003qai.2_Missense_Mutation_p.D434V|NCOA7_uc010ket.2_Missense_Mutation_p.D319V	180	GBM-26-1442-TP	p.D434V	A	CACAAAAAAGACACCTTGAAG	NM_181782	NP_861447	126210501	Q8NI08	NCOA7_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)	11	1750	+	T	T			Missense_Mutation	434						
NCOR1	9611	broad.mit.edu	GRCh37	17	15967451	15967451	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0211-01	TCGA-06-0211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268712.3:c.5152C>T	p.Arg1718Trp	p.R1718W	ENST00000268712	NM_006311.3	1718	Cgg/Tgg	0	A:0.0002		1			A	R/W	uc002gpo.2	protein_coding	YES	CCDS11175.1			5152/7323									upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5	c.(5152-5154)CGG>TGG			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13992,hmmpanther:PTHR13992:SF5	nuclear receptor co-repressor 1			A:0	ENSP00000268712		35/46	8.24E-06							6.06E-05	rs373216507,COSM2150780	35/46	.		ENST00000268712	Transcript			cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	ENSG00000141027	g.chr17:15967451G>A	7672			MODERATE		1.24	low	getma.org/?cm=msa&ty=f&p=NCOR1_HUMAN&rb=1671&re=1870&var=R1718W	NA	getma.org/?cm=var&var=hg19,17,15967451,G,A&fts=all	R1718W	--	--	1																																		NCOR1_uc002gpn.2_Missense_Mutation_p.R1734W|NCOR1_uc002gpm.2_Missense_Mutation_p.R238W|NCOR1_uc010vwb.1_Missense_Mutation_p.R302W|NCOR1_uc010coy.2_Missense_Mutation_p.R626W|NCOR1_uc010vwc.1_Missense_Mutation_p.R528W	0,1	1		probably_damaging(0.988)	p.R1718W	NM_006311	NP_006302			0,1	NCOR1_HUMAN	NCOR1	HGNC	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	Q9NSZ0_HUMAN,C9JAP0_HUMAN,B4DJ25_HUMAN		35	5392	-			UPI000013D7D5	1718			Interaction with ETO.|Interaction with C1D (By similarity).		SNV	NCOR1,missense_variant,p.Arg1718Trp,ENST00000268712,NM_006311.3;NCOR1,missense_variant,p.Arg1734Trp,ENST00000395851,NM_001190440.1;NCOR1,missense_variant,p.Arg302Trp,ENST00000395857,;NCOR1,missense_variant,p.Arg349Trp,ENST00000395849,;NCOR1,non_coding_transcript_exon_variant,,ENST00000470782,;NCOR1,non_coding_transcript_exon_variant,,ENST00000458113,;NCOR1,non_coding_transcript_exon_variant,,ENST00000584872,;	uc002gpo.2	c.5152C>T	5410/10720	2	2			c.5152C>T						17	SNP	c.(5152-5154)CGG>TGG	24	24			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5	Broad	nuclear receptor co-repressor 1			15967451		0.383	ENSG00000141027	10048	g.chr17:15967451G>A	cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding							143.241241	KEEP	24	30	-1	40	39	24	30	-1	144.032738	40	39	0.413223	1	0	0	0	0	1	0	0	0	--	--		0	A			NCOR1_uc002gpn.2_Missense_Mutation_p.R1734W|NCOR1_uc002gpm.2_Missense_Mutation_p.R238W|NCOR1_uc010vwb.1_Missense_Mutation_p.R302W|NCOR1_uc010coy.2_Missense_Mutation_p.R626W|NCOR1_uc010vwc.1_Missense_Mutation_p.R528W	48	GBM-06-0211-TP	p.R1718W	G	tcccgctcccgttcccgttcc	NM_006311	NP_006302	15967451	O75376	NCOR1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	35	5392	-	A	A			Missense_Mutation	1718			Interaction with ETO.|Interaction with C1D (By similarity).			
NCOR1P1	149934		GRCh37	20	26084125	26084125	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000478176.1:n.333A>G		p.*111*	ENST00000478176				0																																																																																																																																																																																																																																												
NCOR2	0	broad.mit.edu	GRCh37	12	124915195	124915195	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-14-3476-01	TCGA-14-3476-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000405201.1:c.1021delC	p.Arg341AlafsTer54	p.R341Afs*54	ENST00000405201		341	Cgc/gc	0			1			-	R/X	uc010tba.1	protein_coding	YES	CCDS41858.2			1021/7545									skin(3)|ovary(1)	4	c.(1021-1023)CGCfs			hmmpanther:PTHR13992,hmmpanther:PTHR13992:SF21	nuclear receptor co-repressor 2 isoform 2				ENSP00000384018		Sep-47										Sep-47	.		ENST00000405201	Transcript			cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	ENSG00000196498	g.chr12:124915195delG	7673			HIGH								--	--	1																																		NCOR2_uc010tay.1_Frame_Shift_Del_p.R341fs|NCOR2_uc010taz.1_Frame_Shift_Del_p.R341fs|NCOR2_uc010tbb.1_Frame_Shift_Del_p.R341fs|NCOR2_uc010tbc.1_Frame_Shift_Del_p.R341fs|NCOR2_uc001ugj.1_Frame_Shift_Del_p.R341fs|NCOR2_uc001ugk.1_Frame_Shift_Del_p.R341fs		1			p.R341fs	NM_001077261	NP_001070729					NCOR2	HGNC	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	C9JFD3_HUMAN,C9J330_HUMAN		9	1138	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		UPI000013D737	341					deletion	NCOR2,frameshift_variant,p.Arg341AlafsTer54,ENST00000356219,NM_006312.5;NCOR2,frameshift_variant,p.Arg341AlafsTer54,ENST00000405201,;NCOR2,frameshift_variant,p.Arg341AlafsTer54,ENST00000397355,;NCOR2,frameshift_variant,p.Arg341AlafsTer53,ENST00000404621,NM_001077261.3;NCOR2,frameshift_variant,p.Arg341AlafsTer53,ENST00000429285,;NCOR2,frameshift_variant,p.Arg341AlafsTer54,ENST00000458234,;NCOR2,frameshift_variant,p.Arg341AlafsTer54,ENST00000420698,;NCOR2,frameshift_variant,p.Arg264AlafsTer?,ENST00000542927,;NCOR2,frameshift_variant,p.Arg243AlafsTer?,ENST00000448008,;NCOR2,5_prime_UTR_variant,,ENST00000404121,NM_001206654.1;NCOR2,upstream_gene_variant,,ENST00000494460,;	uc010tba.1	c.1021delC	1022/8533	5	5			c.1021delC						12	DEL	c.(1021-1023)CGCfs	5	5			skin(3)|ovary(1)	4	Broad	nuclear receptor co-repressor 2 isoform 2			124915195		0.672	ENSG00000196498	10049	g.chr12:124915195delG	cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity																				0.27	1	1	0	1	0	0	0	0	0	--	--		0	-			NCOR2_uc010tay.1_Frame_Shift_Del_p.R341fs|NCOR2_uc010taz.1_Frame_Shift_Del_p.R341fs|NCOR2_uc010tbb.1_Frame_Shift_Del_p.R341fs|NCOR2_uc010tbc.1_Frame_Shift_Del_p.R341fs|NCOR2_uc001ugj.1_Frame_Shift_Del_p.R341fs|NCOR2_uc001ugk.1_Frame_Shift_Del_p.R341fs	151	GBM-14-3476-TP	p.R341fs	G	CGCTGCTTGCGGATCTCAGGG	NM_001077261	NP_001070729	124915195	Q9Y618	NCOR2_HUMAN	0		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	9	1138	-	-	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		Frame_Shift_Del	341						
NCR1	9437	broad.mit.edu	GRCh37	19	55420766	55420766	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01	TCGA-06-5413-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000291890.4:c.518C>T	p.Ala173Val	p.A173V	ENST00000291890	NM_004829.6	173	gCg/gTg	0			1			T	A/V	uc002qib.2	protein_coding	YES	CCDS12911.1			518/915									large_intestine(1)|ovary(1)	2	c.(517-519)GCG>GTG			Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF13927,Gene3D:2.60.40.10,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF14	natural cytotoxicity triggering receptor 1				ENSP00000291890		7-Apr	1.65E-05					3.00E-05			rs759022000,COSM1001286	7-Apr	.		ENST00000291890	Transcript			cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	ENSG00000189430	g.chr19:55420766C>T	6731			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=NCTR1_HUMAN&rb=123&re=195&var=A173V	getma.org/pdb.php?prot=NCTR1_HUMAN&from=123&to=195&var=A173V	getma.org/?cm=var&var=hg19,19,55420766,C,T&fts=all	A173V	--	--	1																																		NCR1_uc002qic.2_Missense_Mutation_p.A173V|NCR1_uc002qie.2_Missense_Mutation_p.A173V|NCR1_uc002qid.2_Missense_Mutation_p.A78V|NCR1_uc002qif.2_Missense_Mutation_p.A78V|NCR1_uc010esj.2_Missense_Mutation_p.A66V	0,1	1		possibly_damaging(0.81)	p.A173V	NM_004829	NP_004820		tolerated(0.08)	0,1	NCTR1_HUMAN	NCR1	HGNC	O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)			4	556	+			UPI00000726A9	173			Extracellular (Potential).|Ig-like 2.		SNV	NCR1,missense_variant,p.Ala173Val,ENST00000594765,;NCR1,missense_variant,p.Ala173Val,ENST00000291890,NM_004829.6;NCR1,missense_variant,p.Ala173Val,ENST00000447255,NM_001145457.2;NCR1,missense_variant,p.Ala161Val,ENST00000598576,;NCR1,missense_variant,p.Ala173Val,ENST00000338835,NM_001145458.2;NCR1,missense_variant,p.Ala78Val,ENST00000350790,NM_001242356.2;NCR1,missense_variant,p.Ala66Val,ENST00000357397,;NCR1,downstream_gene_variant,,ENST00000601137,;NCR1,downstream_gene_variant,,ENST00000601903,;	uc002qib.2	c.518C>T	556/1155	1	1			c.518C>T						19	SNP	c.(517-519)GCG>GTG	7	7			large_intestine(1)|ovary(1)	2	Broad	natural cytotoxicity triggering receptor 1			55420766		0.572	ENSG00000189430	10050	g.chr19:55420766C>T	cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity							111.562279	KEEP	22	26	-1	54	35	22	26	-1	114.513215	54	35	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	T			NCR1_uc002qic.2_Missense_Mutation_p.A173V|NCR1_uc002qie.2_Missense_Mutation_p.A173V|NCR1_uc002qid.2_Missense_Mutation_p.A78V|NCR1_uc002qif.2_Missense_Mutation_p.A78V|NCR1_uc010esj.2_Missense_Mutation_p.A66V	96	GBM-06-5413-TP	p.A173V	C	AAGGTCCAGGCGGAGTTCCCC	NM_004829	NP_004820	55420766	O76036	NCTR1_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0449)	4	556	+	T	T			Missense_Mutation	173			Extracellular (Potential).|Ig-like 2.			
NCSTN	0	broad.mit.edu	GRCh37	1	160318815	160318815	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-41-2575-01	TCGA-41-2575-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294785.5:c.217A>G	p.Ile73Val	p.I73V	ENST00000294785	NM_015331.2	73	Atc/Gtc	0			1			G	I/V	uc001fvx.2	protein_coding	YES	CCDS1203.1			217/2130									ovary(1)|lung(1)	2	c.(217-219)ATC>GTC			hmmpanther:PTHR21092,hmmpanther:PTHR21092:SF0	nicastrin precursor				ENSP00000294785		17-Mar									COSM3399889,COSM3399890,COSM3399892,COSM3399891	17-Mar	.		ENST00000294785	Transcript	1		amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	ENSG00000162736	g.chr1:160318815A>G	17091			MODERATE		0.425	neutral	getma.org/?cm=msa&ty=f&p=NICA_HUMAN&rb=1&re=200&var=I73V	NA	getma.org/?cm=var&var=hg19,1,160318815,A,G&fts=all	I73V	--	--	1																																		NCSTN_uc009wtk.1_RNA|NCSTN_uc001fvy.2_Missense_Mutation_p.I53V|NCSTN_uc010pjf.1_Missense_Mutation_p.I73V|NCSTN_uc001fvz.2_5'Flank|NCSTN_uc010pjg.1_5'Flank	1,1,1,1	1		benign(0.017)	p.I73V	NM_015331	NP_056146		tolerated(0.1)	1,1,1,1	NICA_HUMAN	NCSTN	HGNC	Q92542	NICA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		E7ENA9_HUMAN		3	341	+	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		UPI0000042050	73			Extracellular (Potential).		SNV	NCSTN,missense_variant,p.Ile53Val,ENST00000368063,;NCSTN,missense_variant,p.Ile73Val,ENST00000294785,NM_015331.2;NCSTN,missense_variant,p.Ile53Val,ENST00000392212,;NCSTN,missense_variant,p.Ile73Val,ENST00000535857,;NCSTN,missense_variant,p.Ile73Val,ENST00000421914,;NCSTN,missense_variant,p.Ile106Val,ENST00000438008,;NCSTN,missense_variant,p.Ile73Val,ENST00000437169,;NCSTN,upstream_gene_variant,,ENST00000368065,;NCSTN,upstream_gene_variant,,ENST00000424645,;NCSTN,upstream_gene_variant,,ENST00000435149,;NCSTN,upstream_gene_variant,,ENST00000424754,;NCSTN,non_coding_transcript_exon_variant,,ENST00000467837,;NCSTN,non_coding_transcript_exon_variant,,ENST00000491332,;NCSTN,upstream_gene_variant,,ENST00000459963,;NCSTN,downstream_gene_variant,,ENST00000465223,;	uc001fvx.2	c.217A>G	342/2936	4	4			c.217A>G						1	SNP	c.(217-219)ATC>GTC	17	17			ovary(1)|lung(1)	2	Broad	nicastrin precursor			160318815		0.468	ENSG00000162736	10054	g.chr1:160318815A>G	amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding							-14.778754	KEEP	2	3	-1	56	52	2	3	-1	9.432856	56	52	0.038095	1	0	0	0	0	1	0	0	0	--	--		0	G			NCSTN_uc009wtk.1_RNA|NCSTN_uc001fvy.2_Missense_Mutation_p.I53V|NCSTN_uc010pjf.1_Missense_Mutation_p.I73V|NCSTN_uc001fvz.2_5'Flank|NCSTN_uc010pjg.1_5'Flank	253	GBM-41-2575-TP	p.I73V	A	CACAGGGGTTATCCACGTAGT	NM_015331	NP_056146	160318815	Q92542	NICA_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	341	+	G	G	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		Missense_Mutation	73			Extracellular (Potential).			
NDC80	0	broad.mit.edu	GRCh37	18	2610820	2610820	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs144795559		TCGA-76-4934-01	TCGA-76-4934-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261597.4:c.1751G>A	p.Arg584His	p.R584H	ENST00000261597	NM_006101.2	584	cGt/cAt	0	A:0		1			A	R/H	uc002kli.2	protein_coding	YES	CCDS11827.1			1751/1929									ovary(1)	1	c.(1750-1752)CGT>CAT			hmmpanther:PTHR10643,hmmpanther:PTHR10643:SF2	kinetochore associated 2			A:0.0001	ENSP00000261597		16/17	1.65E-05	9.61E-05				1.50E-05			rs144795559,COSM3403479	16/17	.		ENST00000261597	Transcript			attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding	ENSG00000080986	g.chr18:2610820G>A	16909			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=NDC80_HUMAN&rb=475&re=632&var=R584H	NA	getma.org/?cm=var&var=hg19,18,2610820,G,A&fts=all	R584H	--	--	1																																			0,1	1		benign(0.005)	p.R584H	NM_006101	NP_006092		tolerated(0.35)	0,1	NDC80_HUMAN	NDC80	HGNC	O14777	NDC80_HUMAN			A8K031_HUMAN		16	1933	+			UPI0000073C92	584			Potential.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.|Interaction with NEK2 and ZWINT.		SNV	NDC80,missense_variant,p.Arg584His,ENST00000261597,NM_006101.2;NDC80,missense_variant,p.Arg14His,ENST00000574096,;	uc002kli.2	c.1751G>A	1933/2172	1	1			c.1751G>A						18	SNP	c.(1750-1752)CGT>CAT	64	64			ovary(1)	1	Broad	kinetochore associated 2			2610820		0.373	ENSG00000080986	10055	g.chr18:2610820G>A	attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding							441.438027	KEEP	87	74	-1	114	114	87	74	-1	443.133778	114	114	0.425287	1	0	0	0	0	1	0	0	0	--	--		0	A				272	GBM-76-4934-TP	p.R584H	G	AACTTGCAACGTCTGTTAGAG	NM_006101	NP_006092	2610820	O14777	NDC80_HUMAN	0			16	1933	+	A	A			Missense_Mutation	584			Potential.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.|Interaction with NEK2 and ZWINT.			
NDFIP1	80762		GRCh37	5	141511419	141511419	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000253814.4:c.110A>G	p.Asp37Gly	p.D37G	ENST00000253814	NM_030571.3	37	gAt/gGt	0																																																																																																																																																																																																																																												
NDN	0	broad.mit.edu	GRCh37	15	23931738	23931738	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-81-5910-01	TCGA-81-5910-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331837.4:c.627C>T	p.Ala209=	p.A209=	ENST00000331837	NM_002487.2	209	gcC/gcT	0			1			A	A	uc001ywk.2	protein_coding	YES	CCDS10014.1			627/966										0	c.(625-627)GCC>GCT			Pfam_domain:PF01454,hmmpanther:PTHR11736,PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF10	necdin				ENSP00000332643		1-Jan									COSM3401634	1-Jan	.	Prader-Willi_syndrome	ENST00000331837	Transcript	1		negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	ENSG00000182636	g.chr15:23931738G>A	7675			LOW								--	--	1																																			1	1			p.A209A	NM_002487	NP_002478			1	NECD_HUMAN	NDN	HGNC	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)			1	713	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	UPI000012FEF1	209			MAGE.		SNV	NDN,synonymous_variant,p.=,ENST00000331837,NM_002487.2;	uc001ywk.2	c.627C>T	713/1886	2	2			c.627C>T						15	SNP	c.(625-627)GCC>GCT	34	34				0	Broad	necdin			23931738	Prader-Willi_syndrome	0.632	ENSG00000182636	10060	g.chr15:23931738G>A	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding							50.799435	KEEP	8	9	-1	10	12	8	9	-1	50.824767	10	12	0.470588	1	0	0	0	0	0	0	1	0	--	--		0	A				289	GBM-81-5910-TP	p.A209A	G	CGTTCCAGACGGCGCTCTCTC	NM_002487	NP_002478	23931738	Q99608	NECD_HUMAN	0		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	713	-	A	A		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	Silent	209			MAGE.			
NDN	4692		GRCh37	15	23932352	23932352	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000331837.4:c.13A>T	p.Ser5Cys	p.S5C	ENST00000331837	NM_002487.2	5	Agt/Tgt	0																																																																																																																																																																																																																																												
NDRG1	10397	broad.mit.edu	GRCh37	8	134258899	134258899	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01	TCGA-06-2570-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000414097.2:c.815G>A	p.Cys272Tyr	p.C272Y	ENST00000414097	NM_001135242.1	272	tGc/tAc	0			1			T	C/Y	uc003yuh.2	protein_coding		CCDS34945.1			815/1185									ovary(4)	4	c.(814-816)TGC>TAC			Gene3D:3.40.50.1820,Pfam_domain:PF03096,hmmpanther:PTHR11034,hmmpanther:PTHR11034:SF18,Superfamily_domains:SSF53474	N-myc downstream regulated 1				ENSP00000319977		13/16									COSM2153108	13/16	.		ENST00000323851	Transcript	1		cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding	ENSG00000104419	g.chr8:134258899C>T	7679			MODERATE		2.965	medium	getma.org/?cm=msa&ty=f&p=NDRG1_HUMAN&rb=34&re=316&var=C272Y	getma.org/pdb.php?prot=NDRG1_HUMAN&from=34&to=316&var=C272Y	getma.org/?cm=var&var=hg19,8,134258899,C,T&fts=all	C272Y	--	--	1																																		NDRG1_uc003yue.1_5'Flank|NDRG1_uc003yuf.1_Missense_Mutation_p.C83Y|NDRG1_uc003yug.2_Missense_Mutation_p.C272Y|NDRG1_uc010mee.2_Missense_Mutation_p.C191Y|NDRG1_uc010mef.2_Missense_Mutation_p.C206Y|NDRG1_uc011ljh.1_Missense_Mutation_p.C100Y|NDRG1_uc011lji.1_Missense_Mutation_p.C19Y	1			probably_damaging(0.997)	p.C272Y	NM_001135242	NP_001128714		deleterious(0.03)	1	NDRG1_HUMAN	NDRG1	HGNC	Q92597	NDRG1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		E5RIR1_HUMAN,E5RI76_HUMAN,E5RGM5_HUMAN,E5RGG6_HUMAN,E5RG99_HUMAN,B7Z505_HUMAN,B3KWB2_HUMAN		13	1401	-	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		UPI000012FEDD	272					SNV	NDRG1,missense_variant,p.Cys272Tyr,ENST00000414097,NM_001135242.1;NDRG1,missense_variant,p.Cys272Tyr,ENST00000323851,NM_006096.3;NDRG1,missense_variant,p.Cys191Tyr,ENST00000537882,NM_001258433.1;NDRG1,missense_variant,p.Cys202Tyr,ENST00000354944,;NDRG1,missense_variant,p.Cys206Tyr,ENST00000522476,NM_001258432.1;NDRG1,missense_variant,p.Cys19Tyr,ENST00000518176,;NDRG1,intron_variant,,ENST00000518066,;NDRG1,non_coding_transcript_exon_variant,,ENST00000521414,;NDRG1,non_coding_transcript_exon_variant,,ENST00000517331,;NDRG1,3_prime_UTR_variant,,ENST00000517599,;NDRG1,3_prime_UTR_variant,,ENST00000522377,;NDRG1,non_coding_transcript_exon_variant,,ENST00000519278,;NDRG1,non_coding_transcript_exon_variant,,ENST00000521664,;NDRG1,non_coding_transcript_exon_variant,,ENST00000522665,;NDRG1,upstream_gene_variant,,ENST00000521026,;NDRG1,upstream_gene_variant,,ENST00000523642,;	uc003yuh.2	c.815G>A	937/3014	2	2			c.815G>A						8	SNP	c.(814-816)TGC>TAC	36	36			ovary(4)	4	Broad	N-myc downstream regulated 1			134258899		0.473	ENSG00000104419	10064	g.chr8:134258899C>T	cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding							245.267767	KEEP	52	51	-1	62	56	52	51	-1	245.503555	62	56	0.461538	1	0	0	0	0	1	0	0	0	--	--		0	T			NDRG1_uc003yue.1_5'Flank|NDRG1_uc003yuf.1_Missense_Mutation_p.C83Y|NDRG1_uc003yug.2_Missense_Mutation_p.C272Y|NDRG1_uc010mee.2_Missense_Mutation_p.C191Y|NDRG1_uc010mef.2_Missense_Mutation_p.C206Y|NDRG1_uc011ljh.1_Missense_Mutation_p.C100Y|NDRG1_uc011lji.1_Missense_Mutation_p.C19Y	91	GBM-06-2570-TP	p.C272Y	C	TTTTGAGTTGCACTCCACCTG	NM_001135242	NP_001128714	134258899	Q92597	NDRG1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(115;0.0107)		13	1401	-	T	T	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	272						
NDRG4	65009	broad.mit.edu	GRCh37	16	58538057	58538057	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C			TCGA-06-0125-01	TCGA-06-0125-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394282.4:c.284-1G>C		p.X95_splice	ENST00000394282	NM_001130487.1	95		0			1			C		uc002eno.2	protein_coding		CCDS58466.1			128/1059									skin(1)	1	c.e3-1				NDRG family member 4 isoform 1				ENSP00000457659											COSM3402393,COSM3402394,COSM3402395		.		ENST00000570248	Transcript			cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm		ENSG00000103034	g.chr16:58538057G>C	14466			HIGH	14-Feb							--	--	1																																		NDRG4_uc002enk.2_Splice_Site_p.H75_splice|NDRG4_uc002enm.2_Splice_Site_p.H95_splice|NDRG4_uc010vif.1_Splice_Site_p.H75_splice|NDRG4_uc010cdk.2_Splice_Site_p.D61_splice|NDRG4_uc010vig.1_Splice_Site_p.H73_splice|NDRG4_uc010vih.1_Splice_Site|NDRG4_uc010vii.1_Splice_Site_p.H61_splice|NDRG4_uc002enp.2_Splice_Site_p.H43_splice|NDRG4_uc002enq.1_5'Flank	1,1,1				p.H43_splice	NM_022910	NP_075061			1,1,1	NDRG4_HUMAN	NDRG4	HGNC	Q9ULP0	NDRG4_HUMAN			H3BUK1_HUMAN,H3BU25_HUMAN,H3BST8_HUMAN,H3BSC3_HUMAN,H3BM83_HUMAN,B3KX54_HUMAN		3	234	+			UPI000012FEE0						SNV	NDRG4,splice_acceptor_variant,,ENST00000394282,NM_001130487.1;NDRG4,splice_acceptor_variant,,ENST00000394279,NM_022910.3;NDRG4,splice_acceptor_variant,,ENST00000258187,NM_020465.3;NDRG4,splice_acceptor_variant,,ENST00000566192,NM_001242836.1,NM_001242834.1;NDRG4,splice_acceptor_variant,,ENST00000570248,NM_001242835.1;NDRG4,splice_acceptor_variant,,ENST00000563799,;NDRG4,splice_acceptor_variant,,ENST00000562999,;NDRG4,splice_acceptor_variant,,ENST00000356752,NM_001242833.1;NDRG4,splice_acceptor_variant,,ENST00000569923,;NDRG4,splice_acceptor_variant,,ENST00000568640,;NDRG4,splice_acceptor_variant,,ENST00000565434,;NDRG4,splice_acceptor_variant,,ENST00000564126,;NDRG4,splice_acceptor_variant,,ENST00000564486,;NDRG4,splice_acceptor_variant,,ENST00000569539,;NDRG4,splice_acceptor_variant,,ENST00000567454,;NDRG4,splice_acceptor_variant,,ENST00000565088,;NDRG4,splice_acceptor_variant,,ENST00000569404,;NDRG4,splice_acceptor_variant,,ENST00000567667,;NDRG4,splice_acceptor_variant,,ENST00000561779,;NDRG4,splice_acceptor_variant,,ENST00000561724,;NDRG4,splice_acceptor_variant,,ENST00000566618,;NDRG4,splice_acceptor_variant,,ENST00000562731,;NDRG4,splice_acceptor_variant,,ENST00000561738,;NDRG4,splice_acceptor_variant,,ENST00000565430,;NDRG4,splice_acceptor_variant,,ENST00000568424,;NDRG4,splice_acceptor_variant,,ENST00000567063,;NDRG4,splice_acceptor_variant,,ENST00000568999,;NDRG4,splice_acceptor_variant,,ENST00000564207,;NDRG4,splice_acceptor_variant,,ENST00000566656,;NDRG4,splice_acceptor_variant,,ENST00000565304,;NDRG4,intron_variant,,ENST00000563978,;NDRG4,upstream_gene_variant,,ENST00000569026,;NDRG4,upstream_gene_variant,,ENST00000569408,;NDRG4,non_coding_transcript_exon_variant,,ENST00000563022,;NDRG4,intron_variant,,ENST00000562725,;NDRG4,downstream_gene_variant,,ENST00000569578,;NDRG4,downstream_gene_variant,,ENST00000566065,;NDRG4,splice_acceptor_variant,,ENST00000421602,;NDRG4,splice_acceptor_variant,,ENST00000561720,;NDRG4,splice_acceptor_variant,,ENST00000562764,;NDRG4,splice_acceptor_variant,,ENST00000568464,;NDRG4,splice_acceptor_variant,,ENST00000564867,;NDRG4,splice_acceptor_variant,,ENST00000562930,;NDRG4,splice_acceptor_variant,,ENST00000566585,;NDRG4,non_coding_transcript_exon_variant,,ENST00000564960,;NDRG4,intron_variant,,ENST00000566061,;NDRG4,upstream_gene_variant,,ENST00000566265,;NDRG4,upstream_gene_variant,,ENST00000565981,;NDRG4,upstream_gene_variant,,ENST00000561730,;NDRG4,upstream_gene_variant,,ENST00000568005,;NDRG4,upstream_gene_variant,,ENST00000562350,;NDRG4,upstream_gene_variant,,ENST00000561681,;NDRG4,downstream_gene_variant,,ENST00000563317,;	uc002eno.2	c.128_splice	-/3207	5	3			c.128_splice						16	SNP	c.e3-1	15	15			skin(1)	1	Broad	NDRG family member 4 isoform 1			58538057		0.577	ENSG00000103034	10067	g.chr16:58538057G>C	cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm								243.837713	KEEP	38	40	-1	61	64	38	40	-1	245.894555	61	64	0.385475	1	0	0	0	0	0	0	0	1	--	--		0	C			NDRG4_uc002enk.2_Splice_Site_p.H75_splice|NDRG4_uc002enm.2_Splice_Site_p.H95_splice|NDRG4_uc010vif.1_Splice_Site_p.H75_splice|NDRG4_uc010cdk.2_Splice_Site_p.D61_splice|NDRG4_uc010vig.1_Splice_Site_p.H73_splice|NDRG4_uc010vih.1_Splice_Site|NDRG4_uc010vii.1_Splice_Site_p.H61_splice|NDRG4_uc002enp.2_Splice_Site_p.H43_splice|NDRG4_uc002enq.1_5'Flank	12	GBM-06-0125-TP	p.H43_splice	G	TGTCTTTGCAGACAAACTATG	NM_022910	NP_075061	58538057	Q9ULP0	NDRG4_HUMAN	0			3	234	+	C	C			Splice_Site							
NDST1	3340	broad.mit.edu	GRCh37	5	149922522	149922522	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0241-01	TCGA-06-0241-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261797.6:c.1959A>G	p.Lys653=	p.K653=	ENST00000261797	NM_001543.4	653	aaA/aaG	0			1			G	K	uc003lsk.3	protein_coding	YES	CCDS34277.1			1959/2649									breast(1)|skin(1)	2	c.(1957-1959)AAA>AAG			Gene3D:3.40.50.300,Pfam_domain:PF00685,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF30,Superfamily_domains:SSF52540	N-deacetylase/N-sulfotransferase (heparan				ENSP00000261797		15-Oct									COSM2151132	15-Oct	.		ENST00000261797	Transcript	1		heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	ENSG00000070614	g.chr5:149922522A>G	7680			LOW								--	--	1																																		NDST1_uc011dcj.1_Silent_p.K653K	1	1			p.K653K	NM_001543	NP_001534			1	NDST1_HUMAN	NDST1	HGNC	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		E5RGN9_HUMAN,E5RG58_HUMAN,E5RG24_HUMAN		10	2461	+		all_hematologic(541;0.224)	UPI000012CDA5	653			Heparan sulfate N-sulfotransferase 1.|Lumenal (Potential).		SNV	NDST1,synonymous_variant,p.=,ENST00000261797,NM_001543.4;NDST1,synonymous_variant,p.=,ENST00000523767,;snoU13,downstream_gene_variant,,ENST00000459561,;	uc003lsk.3	c.1959A>G	2461/8030	3	3			c.1959A>G						5	SNP	c.(1957-1959)AAA>AAG	62	62			breast(1)|skin(1)	2	Broad	N-deacetylase/N-sulfotransferase (heparan			149922522		0.567	ENSG00000070614	10068	g.chr5:149922522A>G	heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity							485.505617	KEEP	76	88	-1	121	116	76	88	-1	487.321292	121	116	0.421365	1	0	0	0	0	0	0	1	0	--	--		0	G			NDST1_uc011dcj.1_Silent_p.K653K	57	GBM-06-0241-TP	p.K653K	A	ACTATCACAAAGGCATCGACT	NM_001543	NP_001534	149922522	P52848	NDST1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	2461	+	G	G		all_hematologic(541;0.224)	Silent	653			Heparan sulfate N-sulfotransferase 1.|Lumenal (Potential).			
NDST1	0	broad.mit.edu	GRCh37	5	149925000	149925000	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5958-01	TCGA-19-5958-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261797.6:c.2097C>T	p.Val699=	p.V699=	ENST00000261797	NM_001543.4	699	gtC/gtT	0			1			T	V	uc003lsk.3	protein_coding	YES	CCDS34277.1			2097/2649									breast(1)|skin(1)	2	c.(2095-2097)GTC>GTT			Gene3D:3.40.50.300,Pfam_domain:PF00685,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF30,Low_complexity_(Seg):seg,Superfamily_domains:SSF52540	N-deacetylase/N-sulfotransferase (heparan				ENSP00000261797		15-Nov									COSM2156847	15-Nov	.		ENST00000261797	Transcript	1		heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	ENSG00000070614	g.chr5:149925000C>T	7680			LOW								--	--	1																																		NDST1_uc011dcj.1_Silent_p.V699V	1	1			p.V699V	NM_001543	NP_001534			1	NDST1_HUMAN	NDST1	HGNC	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		E5RGN9_HUMAN,E5RG58_HUMAN,E5RG24_HUMAN		11	2599	+		all_hematologic(541;0.224)	UPI000012CDA5	699			Heparan sulfate N-sulfotransferase 1.|Lumenal (Potential).		SNV	NDST1,synonymous_variant,p.=,ENST00000261797,NM_001543.4;NDST1,synonymous_variant,p.=,ENST00000523767,;snoU13,upstream_gene_variant,,ENST00000459561,;	uc003lsk.3	c.2097C>T	2599/8030	2	2			c.2097C>T						5	SNP	c.(2095-2097)GTC>GTT	36	36			breast(1)|skin(1)	2	Broad	N-deacetylase/N-sulfotransferase (heparan			149925000		0.612	ENSG00000070614	10068	g.chr5:149925000C>T	heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity							313.261708	KEEP	59	71	-1	119	122	59	71	-1	319.465273	119	122	0.350318	1	0	0	0	0	0	0	1	0	--	--		0	T			NDST1_uc011dcj.1_Silent_p.V699V	176	GBM-19-5958-TP	p.V699V	C	AAGCCAAGGTCCTGACCATCC	NM_001543	NP_001534	149925000	P52848	NDST1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	2599	+	T	T		all_hematologic(541;0.224)	Silent	699			Heparan sulfate N-sulfotransferase 1.|Lumenal (Potential).			
NDST3	9348	broad.mit.edu	GRCh37	4	118975673	118975673	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01	TCGA-06-0168-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296499.5:c.608G>A	p.Arg203His	p.R203H	ENST00000296499	NM_004784.2	203	cGt/cAt	0	A:0.0002		1			A	R/H	uc003ibx.2	protein_coding	YES	CCDS3708.1			608/2622									large_intestine(1)	1	c.(607-609)CGT>CAT			Pfam_domain:PF12062,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF15	N-deacetylase/N-sulfotransferase (heparan			A:0.0001	ENSP00000296499		14-Feb	3.29E-05	9.65E-05				4.50E-05			rs377531754,COSM2150242	14-Feb	.		ENST00000296499	Transcript				Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	ENSG00000164100	g.chr4:118975673G>A	7682			MODERATE		-0.305	neutral	getma.org/?cm=msa&ty=f&p=NDST3_HUMAN&rb=19&re=506&var=R203H	NA	getma.org/?cm=var&var=hg19,4,118975673,G,A&fts=all	R203H	--	--	1																																		NDST3_uc011cgf.1_Missense_Mutation_p.R203H|NDST3_uc003ibw.2_Missense_Mutation_p.R203H	0,1	1		benign(0.001)	p.R203H	NM_004784	NP_004775		tolerated(0.61)	0,1	NDST3_HUMAN	NDST3	HGNC	O95803	NDST3_HUMAN					2	1011	+			UPI0000071C44	203			Lumenal (Potential).|Heparan sulfate N-deacetylase 3.		SNV	NDST3,missense_variant,p.Arg203His,ENST00000296499,NM_004784.2;NDST3,missense_variant,p.Arg203His,ENST00000433996,;NDST3,non_coding_transcript_exon_variant,,ENST00000394488,;	uc003ibx.2	c.608G>A	1011/5961	1	1			c.608G>A						4	SNP	c.(607-609)CGT>CAT	62	62			large_intestine(1)	1	Broad	N-deacetylase/N-sulfotransferase (heparan			118975673		0.358	ENSG00000164100	10070	g.chr4:118975673G>A		Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity							267.341932	KEEP	61	58	-1	147	99	61	58	-1	276.371962	147	99	0.315436	1	0	0	0	0	1	0	0	0	--	--		0	A			NDST3_uc011cgf.1_Missense_Mutation_p.R203H|NDST3_uc003ibw.2_Missense_Mutation_p.R203H	33	GBM-06-0168-TP	p.R203H	G	CCATTGATTCGTGTGACCAAA	NM_004784	NP_004775	118975673	O95803	NDST3_HUMAN	0			2	1011	+	A	A			Missense_Mutation	203			Lumenal (Potential).|Heparan sulfate N-deacetylase 3.			
NDST4	64579	broad.mit.edu	GRCh37	4	115792048	115792048	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0168-01	TCGA-06-0168-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264363.2:c.1595C>G	p.Thr532Ser	p.T532S	ENST00000264363	NM_022569.1	532	aCc/aGc	0			1			C	T/S	uc003ibu.2	protein_coding	YES	CCDS3706.1			1595/2619									skin(3)|ovary(1)	4	c.(1594-1596)ACC>AGC			hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF29	heparan sulfate N-deacetylase/N-sulfotransferase				ENSP00000264363		14-Jul									COSM2150249	14-Jul	.		ENST00000264363	Transcript				Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	ENSG00000138653	g.chr4:115792048G>C	20779			MODERATE		2.595	medium	getma.org/?cm=msa&ty=f&p=NDST4_HUMAN&rb=506&re=593&var=T532S	NA	getma.org/?cm=var&var=hg19,4,115792048,G,C&fts=all	T532S	--	--	1																																		NDST4_uc010imw.2_RNA	1	1		probably_damaging(0.956)	p.T532S	NM_022569	NP_072091		tolerated(0.07)	1	NDST4_HUMAN	NDST4	HGNC	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)			7	2274	-		Ovarian(17;0.156)	UPI000006CED7	532			Lumenal (Potential).|Heparan sulfate N-deacetylase 4.		SNV	NDST4,missense_variant,p.Thr532Ser,ENST00000264363,NM_022569.1;NDST4,missense_variant,p.Thr153Ser,ENST00000504854,;	uc003ibu.2	c.1595C>G	2274/3351	3	3			c.1595C>G						4	SNP	c.(1594-1596)ACC>AGC	13	13			skin(3)|ovary(1)	4	Broad	heparan sulfate N-deacetylase/N-sulfotransferase			115792048		0.403	ENSG00000138653	10071	g.chr4:115792048G>C		Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity							74.846418	KEEP	14	13	-1	40	45	14	13	-1	81.567168	40	45	0.23301	1	0	0	0	0	1	0	0	0	--	--		0	C			NDST4_uc010imw.2_RNA	33	GBM-06-0168-TP	p.T532S	G	GTTCACAAAGGTATATAACCC	NM_022569	NP_072091	115792048	Q9H3R1	NDST4_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	7	2274	-	C	C		Ovarian(17;0.156)	Missense_Mutation	532			Lumenal (Potential).|Heparan sulfate N-deacetylase 4.			
NDST4	0	broad.mit.edu	GRCh37	4	115767016	115767016	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-12-5295-01	TCGA-12-5295-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264363.2:c.2078T>C	p.Leu693Pro	p.L693P	ENST00000264363	NM_022569.1	693	cTc/cCc	0			1			G	L/P	uc003ibu.2	protein_coding	YES	CCDS3706.1			2078/2619									skin(3)|ovary(1)	4	c.(2077-2079)CTC>CCC			Superfamily_domains:SSF52540,Pfam_domain:PF00685,Gene3D:3.40.50.300,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF29	heparan sulfate N-deacetylase/N-sulfotransferase				ENSP00000264363		14-Oct									COSM3409015	14-Oct	.		ENST00000264363	Transcript				Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	ENSG00000138653	g.chr4:115767016A>G	20779			MODERATE		3.595	high	getma.org/?cm=msa&ty=f&p=NDST4_HUMAN&rb=594&re=857&var=L693P	getma.org/pdb.php?prot=NDST4_HUMAN&from=594&to=857&var=L693P	getma.org/?cm=var&var=hg19,4,115767016,A,G&fts=all	L693P	--	--	1																																		NDST4_uc010imw.2_RNA	1	1		probably_damaging(0.999)	p.L693P	NM_022569	NP_072091		deleterious(0)	1	NDST4_HUMAN	NDST4	HGNC	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)			10	2757	-		Ovarian(17;0.156)	UPI000006CED7	693			Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.		SNV	NDST4,missense_variant,p.Leu693Pro,ENST00000264363,NM_022569.1;NDST4,missense_variant,p.Leu314Pro,ENST00000504854,;	uc003ibu.2	c.2078T>C	2757/3351	3	3			c.2078T>C						4	SNP	c.(2077-2079)CTC>CCC	49	49			skin(3)|ovary(1)	4	Broad	heparan sulfate N-deacetylase/N-sulfotransferase			115767016		0.428	ENSG00000138653	10071	g.chr4:115767016A>G		Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity							-28.904447	KEEP	3	2	-1	107	69	3	2	-1	7.228091	107	69	0.021277	1	0	0	0	0	1	0	0	0	--	--		0	G			NDST4_uc010imw.2_RNA	129	GBM-12-5295-TP	p.L693P	A	GGGGTCAATGAGGATGGTGAT	NM_022569	NP_072091	115767016	Q9H3R1	NDST4_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	10	2757	-	G	G		Ovarian(17;0.156)	Missense_Mutation	693			Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.			
NDST4	0	broad.mit.edu	GRCh37	4	115997685	115997685	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-27-2519-01	TCGA-27-2519-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264363.2:c.508A>T	p.Asn170Tyr	p.N170Y	ENST00000264363	NM_022569.1	170	Aac/Tac	0			1			A	N/Y	uc003ibu.2	protein_coding	YES	CCDS3706.1			508/2619									skin(3)|ovary(1)	4	c.(508-510)AAC>TAC			Pfam_domain:PF12062,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF29	heparan sulfate N-deacetylase/N-sulfotransferase				ENSP00000264363		14-Feb									COSM3409017	14-Feb	.		ENST00000264363	Transcript				Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	ENSG00000138653	g.chr4:115997685T>A	20779			MODERATE		2.535	medium	getma.org/?cm=msa&ty=f&p=NDST4_HUMAN&rb=19&re=505&var=N170Y	NA	getma.org/?cm=var&var=hg19,4,115997685,T,A&fts=all	N170Y	--	--	1																																		NDST4_uc010imw.2_Intron	1	1		probably_damaging(0.996)	p.N170Y	NM_022569	NP_072091		tolerated(0.05)	1	NDST4_HUMAN	NDST4	HGNC	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)			2	1187	-		Ovarian(17;0.156)	UPI000006CED7	170			Lumenal (Potential).|Heparan sulfate N-deacetylase 4.		SNV	NDST4,missense_variant,p.Asn170Tyr,ENST00000264363,NM_022569.1;NDST4,intron_variant,,ENST00000504854,;NDST4,intron_variant,,ENST00000514570,;	uc003ibu.2	c.508A>T	1187/3351	2	2			c.508A>T						4	SNP	c.(508-510)AAC>TAC	46	46			skin(3)|ovary(1)	4	Broad	heparan sulfate N-deacetylase/N-sulfotransferase			115997685		0.368	ENSG00000138653	10071	g.chr4:115997685T>A		Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity							154.677684	KEEP	31	36	-1	81	81	31	36	-1	162.383951	81	81	0.294118	1	0	0	0	0	1	0	0	0	--	--		0	A			NDST4_uc010imw.2_Intron	199	GBM-27-2519-TP	p.N170Y	T	GGTAAGCTGTTCTCATTGGCT	NM_022569	NP_072091	115997685	Q9H3R1	NDST4_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	2	1187	-	A	A		Ovarian(17;0.156)	Missense_Mutation	170			Lumenal (Potential).|Heparan sulfate N-deacetylase 4.			
NDST4	0	broad.mit.edu	GRCh37	4	115998108	115998108	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-27-2528-01	TCGA-27-2528-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264363.2:c.85T>C	p.Ser29Pro	p.S29P	ENST00000264363	NM_022569.1	29	Tct/Cct	0			1			G	S/P	uc003ibu.2	protein_coding	YES	CCDS3706.1			85/2619									skin(3)|ovary(1)	4	c.(85-87)TCT>CCT			Transmembrane_helices:TMhelix,Pfam_domain:PF12062	heparan sulfate N-deacetylase/N-sulfotransferase				ENSP00000264363		14-Feb									COSM3409018	14-Feb	.		ENST00000264363	Transcript				Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	ENSG00000138653	g.chr4:115998108A>G	20779			MODERATE		2.27	medium	getma.org/?cm=msa&ty=f&p=NDST4_HUMAN&rb=19&re=505&var=S29P	NA	getma.org/?cm=var&var=hg19,4,115998108,A,G&fts=all	S29P	--	--	1																																		NDST4_uc010imw.2_Intron	1	1		probably_damaging(0.984)	p.S29P	NM_022569	NP_072091		deleterious_low_confidence(0.05)	1	NDST4_HUMAN	NDST4	HGNC	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)			2	764	-		Ovarian(17;0.156)	UPI000006CED7	29			Helical; Signal-anchor for type II membrane protein; (Potential).		SNV	NDST4,missense_variant,p.Ser29Pro,ENST00000264363,NM_022569.1;NDST4,intron_variant,,ENST00000504854,;NDST4,intron_variant,,ENST00000514570,;	uc003ibu.2	c.85T>C	764/3351	3	3			c.85T>C						4	SNP	c.(85-87)TCT>CCT	8	8			skin(3)|ovary(1)	4	Broad	heparan sulfate N-deacetylase/N-sulfotransferase			115998108		0.358	ENSG00000138653	10071	g.chr4:115998108A>G		Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity							61.101792	KEEP	5	15	-1	19	26	5	15	-1	63.315842	19	26	0.301587	1	0	0	0	0	1	0	0	0	--	--		0	G			NDST4_uc010imw.2_Intron	205	GBM-27-2528-TP	p.S29P	A	AAATAGGCAGAAATGACAATG	NM_022569	NP_072091	115998108	Q9H3R1	NDST4_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	2	764	-	G	G		Ovarian(17;0.156)	Missense_Mutation	29			Helical; Signal-anchor for type II membrane protein; (Potential).			
NDST4	0	broad.mit.edu	GRCh37	4	115998231	115998231	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A			TCGA-28-5215-01	TCGA-28-5215-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264363.2:c.-39C>T		*13*	ENST00000264363	NM_022569.1			0		A:0.0008	1	A:0		A		uc003ibu.2	protein_coding	YES	CCDS3706.1			-/2619									skin(3)|ovary(1)	4	c.(-40--36)AACGA>AATGA				heparan sulfate N-deacetylase/N-sulfotransferase		A:0		ENSP00000264363	A:0	14-Feb	9.21E-05	0.000324	0.000253	0.000357		7.36E-05			rs575572452	14-Feb	.		ENST00000264363	Transcript		A:0.0002		Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	ENSG00000138653	g.chr4:115998231G>A	20779			MODIFIER								--	--	1																																		NDST4_uc010imw.2_Intron		1				NM_022569	NP_072091	A:0			NDST4_HUMAN	NDST4	HGNC	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)			2	641	-		Ovarian(17;0.156)	UPI000006CED7						SNV	NDST4,5_prime_UTR_variant,,ENST00000264363,NM_022569.1;NDST4,intron_variant,,ENST00000504854,;NDST4,intron_variant,,ENST00000514570,;	uc003ibu.2	c.-38C>T	641/3351	1	1			c.-38C>T						4	SNP	c.(-40--36)AACGA>AATGA	60	60			skin(3)|ovary(1)	4	Broad	heparan sulfate N-deacetylase/N-sulfotransferase			115998231		0.338	ENSG00000138653	10071	g.chr4:115998231G>A		Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity							30.253024	KEEP	5	8	-1	12	21	5	8	-1	32.053465	12	21	0.288889	1	0	0	0	0	0	0	0	0	--	--		0	A			NDST4_uc010imw.2_Intron	222	GBM-28-5215-TP		G	TCCCAATTTCGTTTCCTAAAG	NM_022569	NP_072091	115998231	Q9H3R1	NDST4_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	2	641	-	A	A		Ovarian(17;0.156)	Translation_Start_Site							
NDST4	64579		GRCh37	4	115891587	115891587	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000264363.2:c.1220T>C	p.Leu407Pro	p.L407P	ENST00000264363	NM_022569.1	407	cTg/cCg	0																																																																																																																																																																																																																																												
NDUFA10	0	broad.mit.edu	GRCh37	2	240944658	240944658	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01	TCGA-27-2526-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252711.2:c.859G>A	p.Asp287Asn	p.D287N	ENST00000252711	NM_004544.3	287	Gac/Aac	0			1			T	D/N	uc002vyn.2	protein_coding	YES	CCDS2531.1			859/1068									central_nervous_system(1)	1	c.(859-861)GAC>AAC			PIRSF_domain:PIRSF000543,hmmpanther:PTHR10513,hmmpanther:PTHR10513:SF15,Superfamily_domains:SSF52540	NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)			ENSP00000252711		10-Aug									COSM3407736	10-Aug	.		ENST00000252711	Transcript	1		mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	ENSG00000130414	g.chr2:240944658C>T	7684			MODERATE		0.705	neutral	getma.org/?cm=msa&ty=f&p=NDUAA_HUMAN&rb=131&re=290&var=D287N	NA	getma.org/?cm=var&var=hg19,2,240944658,C,T&fts=all	D287N	--	--	1																																		NDUFA10_uc010fzc.1_Missense_Mutation_p.D317N	1	1		benign(0.075)	p.D287N	NM_004544	NP_004535		tolerated(0.17)	1	NDUAA_HUMAN	NDUFA10	HGNC	O95299	NDUAA_HUMAN		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	Q53SW4_HUMAN,Q53QE8_HUMAN		8	939	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	UPI000013090A	287					SNV	NDUFA10,missense_variant,p.Asp287Asn,ENST00000252711,NM_004544.3;NDUFA10,missense_variant,p.Asp287Asn,ENST00000404554,;NDUFA10,missense_variant,p.Asp317Asn,ENST00000307300,;NDUFA10,missense_variant,p.Asp52Asn,ENST00000419408,;NDUFA10,missense_variant,p.Asp58Asn,ENST00000444548,;NDUFA10,missense_variant,p.Asp50Asn,ENST00000448880,;NDUFA10,intron_variant,,ENST00000443626,;NDUFA10,non_coding_transcript_exon_variant,,ENST00000485344,;NDUFA10,non_coding_transcript_exon_variant,,ENST00000476216,;	uc002vyn.2	c.859G>A	960/4915	2	2			c.859G>A						2	SNP	c.(859-861)GAC>AAC	44	44			central_nervous_system(1)	1	Broad	NADH dehydrogenase (ubiquinone) 1 alpha		NADH(DB00157)	240944658		0.463	ENSG00000130414	10073	g.chr2:240944658C>T	mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor							212.377644	KEEP	36	45	-1	57	74	36	45	-1	214.536451	57	74	0.385027	1	0	0	0	0	1	0	0	0	--	--		0	T			NDUFA10_uc010fzc.1_Missense_Mutation_p.D317N	203	GBM-27-2526-TP	p.D287N	C	GTGCGATTGTCCTGCTTGAGC	NM_004544	NP_004535	240944658	O95299	NDUAA_HUMAN	0		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	8	939	-	T	T		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	Missense_Mutation	287						
NDUFA12	0	broad.mit.edu	GRCh37	12	95365322	95365322	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5220-01	TCGA-28-5220-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327772.2:c.332C>T	p.Thr111Met	p.T111M	ENST00000327772	NM_018838.4	111	aCg/aTg	0			1			A	T/M	uc001tdl.2	protein_coding	YES	CCDS9050.1			332/438										0	c.(331-333)ACG>ATG			hmmpanther:PTHR12910:SF2,hmmpanther:PTHR12910,Pfam_domain:PF05071	13kDa differentiation-associated protein	NADH(DB00157)			ENSP00000330737		4-Apr	1.65E-05					3.00E-05			rs759909165,COSM3384684	4-Apr	.		ENST00000327772	Transcript	1		respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	ENSG00000184752	g.chr12:95365322G>A	23987			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=NDUAC_HUMAN&rb=36&re=141&var=T111M	NA	getma.org/?cm=var&var=hg19,12,95365322,G,A&fts=all	T111M	--	--	1																																			0,1	1		possibly_damaging(0.505)	p.T111M	NM_018838	NP_061326		tolerated(0.13)	0,1	NDUAC_HUMAN	NDUFA12	HGNC	Q9UI09	NDUAC_HUMAN					4	387	-			UPI000012FC31	111					SNV	NDUFA12,missense_variant,p.Thr111Met,ENST00000327772,NM_018838.4;NDUFA12,3_prime_UTR_variant,,ENST00000547986,NM_001258338.1;NDUFA12,intron_variant,,ENST00000547157,;NDUFA12,non_coding_transcript_exon_variant,,ENST00000550187,;NDUFA12,3_prime_UTR_variant,,ENST00000546788,;NDUFA12,3_prime_UTR_variant,,ENST00000551991,;NDUFA12,non_coding_transcript_exon_variant,,ENST00000538372,;NDUFA12,intron_variant,,ENST00000552205,;	uc001tdl.2	c.332C>T	422/635	2	2			c.332C>T						12	SNP	c.(331-333)ACG>ATG	25	25				0	Broad	13kDa differentiation-associated protein		NADH(DB00157)	95365322		0.423	ENSG00000184752	10075	g.chr12:95365322G>A	respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity							-38.655576	KEEP	4	3	-1	109	117	4	3	-1	12.655975	109	117	0.032558	1	0	0	0	0	1	0	0	0	--	--		0	A				226	GBM-28-5220-TP	p.T111M	G	TTTATGGTTCGTCCAAATGAA	NM_018838	NP_061326	95365322	Q9UI09	NDUAC_HUMAN	0			4	387	-	A	A			Missense_Mutation	111						
NDUFA3	0	broad.mit.edu	GRCh37	19	54609317	54609317	+	splice_region_variant,synonymous_variant,NMD_transcript_variant	Splice_Region	SNP	A	A	C			TCGA-26-6173-01	TCGA-26-6173-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000419113.1:c.162A>C	p.Pro54=	p.P54=	ENST00000419113		54	ccA/ccC	0			1			C	P	uc002qde.2	nonsense_mediated_decay		CCDS12877.1			162/255									breast(1)	1	c.(160-162)CCA>CCC			hmmpanther:PTHR15221:SF0,hmmpanther:PTHR15221,Pfam_domain:PF14987	NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)			ENSP00000398290		5-Mar									COSM3404567,COSM3404568	5-Mar	.		ENST00000419113	Transcript			mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	ENSG00000170906	g.chr19:54609317A>C	7686			LOW								--	--	1																																		NDUFA3_uc002qdf.2_RNA	1,1				p.P54P	NM_004542	NP_004533			1,1	NDUA3_HUMAN	NDUFA3	HGNC	O95167	NDUA3_HUMAN			S4R3I5_HUMAN,Q6FGG4_HUMAN		3	189	+	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)		UPI000013004B	54					SNV	NDUFA3,missense_variant,p.Ser58Arg,ENST00000391763,;NDUFA3,splice_region_variant,p.=,ENST00000485876,;NDUFA3,splice_region_variant,p.=,ENST00000391762,;NDUFA3,splice_region_variant,p.=,ENST00000303553,;NDUFA3,splice_region_variant,p.=,ENST00000420296,;NDUFA3,splice_region_variant,p.=,ENST00000391764,;NDUFA3,synonymous_variant,p.=,ENST00000471292,;OSCAR,upstream_gene_variant,,ENST00000284648,;TFPT,downstream_gene_variant,,ENST00000391759,NM_013342.3;TFPT,downstream_gene_variant,,ENST00000391758,;TFPT,downstream_gene_variant,,ENST00000391757,;NDUFA3,upstream_gene_variant,,ENST00000480713,;NDUFA3,upstream_gene_variant,,ENST00000482960,;NDUFA3,splice_region_variant,p.=,ENST00000422029,;NDUFA3,splice_region_variant,,ENST00000417903,;NDUFA3,splice_region_variant,p.=,ENST00000419113,;NDUFA3,splice_region_variant,,ENST00000484103,;NDUFA3,splice_region_variant,,ENST00000451517,;TFPT,downstream_gene_variant,,ENST00000420715,;	uc002qde.2	c.162A>C	220/654	4	4			c.162A>C						19	SNP	c.(160-162)CCA>CCC	33	33			breast(1)	1	Broad	NADH dehydrogenase (ubiquinone) 1 alpha		NADH(DB00157)	54609317		0.577	ENSG00000170906	10078	g.chr19:54609317A>C	mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			8			8	38.644029	KEEP	8	10	-1	28	26	8	10	-1	42.332566	28	26	0.253731	1	0	0	0	0	0	0	1	0	--	--		0	C			NDUFA3_uc002qdf.2_RNA	187	GBM-26-6173-TP	p.P54P	A	ACAACTACCCAGGTGAGTGGG	NM_004542	NP_004533	54609317	O95167	NDUA3_HUMAN	0			3	189	+	C	C	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)		Silent	54						
NDUFA4	0	broad.mit.edu	GRCh37	7	10979661	10979661	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-4925-01	TCGA-76-4925-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339600.5:c.24G>C	p.Gln8His	p.Q8H	ENST00000339600	NM_002489.3	8	caG/caC	0			1			G	Q/H	uc003srx.1	protein_coding	YES	CCDS5357.1			24/246										0	c.(22-24)CAG>CAC			hmmpanther:PTHR14256,hmmpanther:PTHR14256:SF4	NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)			ENSP00000339720		4-Jan									COSM2157497	4-Jan	.		ENST00000339600	Transcript	1		mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	ENSG00000189043	g.chr7:10979661C>G	7687			MODERATE								--	--	1																																			1	1		benign(0.03)	p.Q8H	NM_002489	NP_002480		tolerated(0.23)	1	NDUA4_HUMAN	NDUFA4	HGNC	O00483	NDUA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.177)			1	153	-			UPI00001309C1	8					SNV	NDUFA4,missense_variant,p.Gln8His,ENST00000339600,NM_002489.3;RP5-855F16.1,upstream_gene_variant,,ENST00000604183,;NDUFA4,non_coding_transcript_exon_variant,,ENST00000492822,;NDUFA4,non_coding_transcript_exon_variant,,ENST00000486007,;NDUFA4,upstream_gene_variant,,ENST00000482299,;NDUFA4,upstream_gene_variant,,ENST00000470761,;NDUFA4,upstream_gene_variant,,ENST00000463308,;	uc003srx.1	c.24G>C	223/2130	3	3			c.24G>C						7	SNP	c.(22-24)CAG>CAC	5	5				0	Broad	NADH dehydrogenase (ubiquinone) 1 alpha		NADH(DB00157)	10979661		0.547	ENSG00000189043	10079	g.chr7:10979661C>G	mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity							315.221389	KEEP	57	75	-1	235	264	57	75	-1	356.237378	235	264	0.215971	1	0	0	0	0	1	0	0	0	--	--		0	G				265	GBM-76-4925-TP	p.Q8H	C	GCTTCTTGGCCTGACCGATGA	NM_002489	NP_002480	10979661	O00483	NDUA4_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	1	153	-	G	G			Missense_Mutation	8						
NDUFAF2	0	broad.mit.edu	GRCh37	5	60368982	60368982	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-3476-01	TCGA-14-3476-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296597.5:c.158A>G	p.Glu53Gly	p.E53G	ENST00000296597	NM_174889.4	53	gAa/gGa	0			1			G	E/G	uc003jsp.3	protein_coding	YES	CCDS3979.1			158/510										0	c.(157-159)GAA>GGA			Pfam_domain:PF05071,hmmpanther:PTHR32470,hmmpanther:PTHR32470:SF2	NADH dehydrogenase (ubiquinone) 1 alpha				ENSP00000296597		4-Feb									COSM3410337	4-Feb	.		ENST00000296597	Transcript	1			membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	ENSG00000164182	g.chr5:60368982A>G	28086			MODERATE		3.37	medium	getma.org/?cm=msa&ty=f&p=MIMIT_HUMAN&rb=20&re=130&var=E53G	NA	getma.org/?cm=var&var=hg19,5,60368982,A,G&fts=all	E53G	--	--	1																																		NDUFAF2_uc003jso.3_Intron	1	1		probably_damaging(0.957)	p.E53G	NM_174889	NP_777549		deleterious(0)	1	MIMIT_HUMAN	NDUFAF2	HGNC	Q8N183	MIMIT_HUMAN					2	285	+		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)	UPI000006D648	53					SNV	NDUFAF2,missense_variant,p.Glu53Gly,ENST00000296597,NM_174889.4;NDUFAF2,missense_variant,p.Glu27Gly,ENST00000502658,;NDUFAF2,intron_variant,,ENST00000511107,;NDUFAF2,non_coding_transcript_exon_variant,,ENST00000512623,;	uc003jsp.3	c.158A>G	285/708	3	3			c.158A>G						5	SNP	c.(157-159)GAA>GGA	54	54				0	Broad	NADH dehydrogenase (ubiquinone) 1 alpha			60368982		0.323	ENSG00000164182	10088	g.chr5:60368982A>G		membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity							60.943606	KEEP	14	16	-1	96	76	14	16	-1	79.845444	96	76	0.155689	1	0	0	0	0	1	0	0	0	--	--		0	G			NDUFAF2_uc003jso.3_Intron	151	GBM-14-3476-TP	p.E53G	A	AGAATTGTAGAAGCAGCAAAT	NM_174889	NP_777549	60368982	Q8N183	MIMIT_HUMAN	0			2	285	+	G	G		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)	Missense_Mutation	53						
NDUFAF4	0	broad.mit.edu	GRCh37	6	97344693	97344693	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs142963790		TCGA-14-0790-01	TCGA-14-0790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316149.7:c.167G>A	p.Arg56His	p.R56H	ENST00000316149	NM_014165.3	56	cGt/cAt	0			1			T	R/H	uc003pow.2	protein_coding	YES	CCDS5037.1			167/528									ovary(1)	1	c.(166-168)CGT>CAT			Pfam_domain:PF06784,hmmpanther:PTHR13338,hmmpanther:PTHR13338:SF4	NADH dehydrogenase (ubiquinone) 1 alpha				ENSP00000358272		3-Feb									COSM3411345	3-Feb	.		ENST00000316149	Transcript	1		mitochondrial respiratory chain complex I assembly	mitochondrial membrane	calmodulin binding	ENSG00000123545	g.chr6:97344693C>T	21034			MODERATE		1.95	medium	getma.org/?cm=msa&ty=f&p=NDUF4_HUMAN&rb=1&re=175&var=R56H	NA	getma.org/?cm=var&var=hg19,6,97344693,C,T&fts=all	R56H	--	--	1																																		NDUFAF4_uc003pov.2_RNA	1	1		benign(0.056)	p.R56H	NM_014165	NP_054884		deleterious(0.03)	1	NDUF4_HUMAN	NDUFAF4	HGNC	Q9P032	NDUF4_HUMAN					2	257	-			UPI0000049FC8	56					SNV	NDUFAF4,missense_variant,p.Arg56His,ENST00000316149,NM_014165.3;NDUFAF4,non_coding_transcript_exon_variant,,ENST00000489477,;NDUFAF4,non_coding_transcript_exon_variant,,ENST00000478382,;	uc003pow.2	c.167G>A	247/2399	1	1			c.167G>A						6	SNP	c.(166-168)CGT>CAT	10	10			ovary(1)	1	Broad	NADH dehydrogenase (ubiquinone) 1 alpha			97344693		0.333	ENSG00000123545	10090	g.chr6:97344693C>T	mitochondrial respiratory chain complex I assembly	mitochondrial membrane	calmodulin binding							-38.465146	KEEP	4	3	-1	109	128	4	3	-1	13.426468	109	128	0.032258	1	0	0	0	0	1	0	0	0	--	--		0	T			NDUFAF4_uc003pov.2_RNA	137	GBM-14-0790-TP	p.R56H	C	TTCATCTTTACGAGCAATCTC	NM_014165	NP_054884	97344693	Q9P032	NDUF4_HUMAN	0			2	257	-	T	T			Missense_Mutation	56						
NDUFB1	4707	broad.mit.edu	GRCh37	14	92588104	92588104	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-12-0821-01	TCGA-12-0821-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329559.3:c.18C>G	p.His6Gln	p.H6Q	ENST00000329559	NM_004545.3	6	caC/caG	0			1			C		uc001yaf.2	protein_coding					-/177										0	c.(16-18)CAC>CAG	36			NADH dehydrogenase (ubiquinone) 1 beta	NADH(DB00157)			ENSP00000451090											COSM3401523		.		ENST00000553514	Transcript			mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	ENSG00000183648	g.chr14:92588104G>C	7695			MODIFIER								--	--	1																																		NDUFB1_uc001yag.1_RNA|CPSF2_uc001yah.1_5'Flank	1				p.H6Q	NM_004545	NP_004536			1	NDUB1_HUMAN	NDUFB1	HGNC	O75438	NDUB1_HUMAN		COAD - Colon adenocarcinoma(157;0.205)			1	50	-		all_cancers(154;0.0766)	UPI000013019C	14			Helical; (Potential).		SNV	NDUFB1,missense_variant,p.His6Gln,ENST00000329559,NM_004545.3;CPSF2,upstream_gene_variant,,ENST00000298875,NM_017437.2;CPSF2,upstream_gene_variant,,ENST00000553427,;NDUFB1,upstream_gene_variant,,ENST00000555441,;NDUFB1,upstream_gene_variant,,ENST00000553514,;NDUFB1,upstream_gene_variant,,ENST00000605997,;NDUFB1,upstream_gene_variant,,ENST00000556555,;NDUFB1,upstream_gene_variant,,ENST00000553666,;CPSF2,upstream_gene_variant,,ENST00000554290,;	uc001yaf.2	c.18C>G	-/454	4	4			c.18C>G						14	SNP	c.(16-18)CAC>CAG	41	41				0	Broad	NADH dehydrogenase (ubiquinone) 1 beta		NADH(DB00157)	92588104		0.517	ENSG00000183648	10091	g.chr14:92588104G>C	mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity							275.297855	KEEP	46	46	-1	19	12	46	46	-1	280.453069	19	12	0.733333	1	0	0	0	0	1	0	0	0	--	--		0	C			NDUFB1_uc001yag.1_RNA|CPSF2_uc001yah.1_5'Flank	123	GBM-12-0821-TP	p.H6Q	G	GAGCAGAGGGGTGACGCCAGC	NM_004545	NP_004536	92588104	O75438	NDUB1_HUMAN	0		COAD - Colon adenocarcinoma(157;0.205)	1	50	-	C	C		all_cancers(154;0.0766)	Missense_Mutation	14			Helical; (Potential).			
NDUFB11	54539	broad.mit.edu	GRCh37	X	47001797	47001797	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0173-01	TCGA-06-0173-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276062.8:c.411A>G	p.Lys137=	p.K137=	ENST00000276062	NM_019056.6	137	aaA/aaG	0			1			C	K	uc004dhd.2	protein_coding		CCDS48100.1			381/462										0	c.(379-381)AAA>AAG			hmmpanther:PTHR13327:SF1,hmmpanther:PTHR13327,Pfam_domain:PF10183	NADH dehydrogenase (ubiquinone) 1 beta				ENSP00000367042		3-Mar									COSM2150381	3-Mar	.		ENST00000377811	Transcript	1		respiratory electron transport chain|transport	integral to membrane|mitochondrial respiratory chain complex I		ENSG00000147123	g.chrX:47001797T>C	20372			LOW								--	--	1																																		NDUFB11_uc004dhc.2_Silent_p.K137K|RBM10_uc004dhe.1_5'Flank|RBM10_uc004dhf.2_5'Flank|RBM10_uc004dhg.2_5'Flank|RBM10_uc004dhh.2_5'Flank|RBM10_uc010nhq.2_5'Flank|RBM10_uc004dhi.2_5'Flank	1				p.K127K	NM_001135998	NP_001129470			1	NDUBB_HUMAN	NDUFB11	HGNC	Q9NX14	NDUBB_HUMAN					3	912	-			UPI0000048EEE	127					SNV	NDUFB11,synonymous_variant,p.=,ENST00000377811,NM_001135998.2;NDUFB11,synonymous_variant,p.=,ENST00000276062,NM_019056.6;RBM10,upstream_gene_variant,,ENST00000377604,NM_001204468.1,NM_001204467.1,NM_005676.4;RBM10,upstream_gene_variant,,ENST00000329236,NM_001204466.1,NM_152856.2;RBM10,upstream_gene_variant,,ENST00000345781,;	uc004dhd.2	c.381A>G	1206/1388	3	3			c.381A>G						23	SNP	c.(379-381)AAA>AAG	64	64				0	Broad	NADH dehydrogenase (ubiquinone) 1 beta			47001797		0.552	ENSG00000147123	10093	g.chrX:47001797T>C	respiratory electron transport chain|transport	integral to membrane|mitochondrial respiratory chain complex I		Ovarian(77;454 1296 7908 21551 37072)			Ovarian(77;454 1296 7908 21551 37072)			115.331379	KEEP	23	21	-1	27	21	23	21	-1	115.344504	27	21	0.514706	1	0	0	0	0	0	0	1	0	--	--		0	C			NDUFB11_uc004dhc.2_Silent_p.K137K|RBM10_uc004dhe.1_5'Flank|RBM10_uc004dhf.2_5'Flank|RBM10_uc004dhg.2_5'Flank|RBM10_uc004dhh.2_5'Flank|RBM10_uc010nhq.2_5'Flank|RBM10_uc004dhi.2_5'Flank	36	GBM-06-0173-TP	p.K127K	T	CCTCTCGGTATTTCACAAGCC	NM_001135998	NP_001129470	47001797	Q9NX14	NDUBB_HUMAN	0			3	912	-	C	C			Silent	127						
NDUFS2	0	broad.mit.edu	GRCh37	1	161182256	161182256	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-19-2629-01	TCGA-19-2629-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367993.3:c.1102C>T	p.Arg368Ter	p.R368*	ENST00000367993	NM_004550.4	368	Cga/Tga	0		T:0	1	T:0		T	R/*	uc001fyv.2	protein_coding	YES	CCDS1224.1			1102/1392									skin(1)	1	c.(1102-1104)CGA>TGA			Gene3D:1.10.645.10,HAMAP:MF_01358,Pfam_domain:PF00346,hmmpanther:PTHR11993,hmmpanther:PTHR11993:SF10,Superfamily_domains:SSF56762,TIGRFAM_domain:TIGR01962	NADH dehydrogenase (ubiquinone) Fe-S protein 2	NADH(DB00157)	T:0		ENSP00000356972	T:0.001	15-Nov	3.29E-05	9.64E-05			0.000305	1.50E-05			rs534026057,COSM3399914	15-Nov	.		ENST00000367993	Transcript	1	T:0.0002	mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding	ENSG00000158864	g.chr1:161182256C>T	7708			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,161182256,C,T&fts=all	R368*	--	--	1																																		NDUFS2_uc001fyw.2_Nonsense_Mutation_p.R368*|NDUFS2_uc010pkj.1_Nonsense_Mutation_p.R317*|NDUFS2_uc001fyx.2_Nonsense_Mutation_p.R342*|FCER1G_uc001fyz.1_5'Flank|FCER1G_uc001fza.1_5'Flank	0,1	1			p.R368*	NM_004550	NP_004541	T:0		0,1	NDUS2_HUMAN	NDUFS2	HGNC	O75306	NDUS2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		Q9HC12_HUMAN,Q9HC11_HUMAN,B7Z9L2_HUMAN		11	1550	+	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		UPI00001308D2	368					SNV	NDUFS2,stop_gained,p.Arg368Ter,ENST00000392179,NM_001166159.1;NDUFS2,stop_gained,p.Arg368Ter,ENST00000367993,NM_004550.4;NDUFS2,downstream_gene_variant,,ENST00000476409,;FCER1G,upstream_gene_variant,,ENST00000289902,NM_004106.1;FCER1G,upstream_gene_variant,,ENST00000367992,;NDUFS2,non_coding_transcript_exon_variant,,ENST00000465923,;NDUFS2,non_coding_transcript_exon_variant,,ENST00000483804,;NDUFS2,non_coding_transcript_exon_variant,,ENST00000480762,;NDUFS2,non_coding_transcript_exon_variant,,ENST00000493849,;NDUFS2,non_coding_transcript_exon_variant,,ENST00000468828,;NDUFS2,downstream_gene_variant,,ENST00000478866,;NDUFS2,downstream_gene_variant,,ENST00000467295,;NDUFS2,downstream_gene_variant,,ENST00000496553,;NDUFS2,downstream_gene_variant,,ENST00000496133,;FCER1G,upstream_gene_variant,,ENST00000490414,;NDUFS2,downstream_gene_variant,,ENST00000473321,;NDUFS2,upstream_gene_variant,,ENST00000492153,;	uc001fyv.2	c.1102C>T	1550/2042	5	1			c.1102C>T						1	SNP	c.(1102-1104)CGA>TGA	16	16			skin(1)	1	Broad	NADH dehydrogenase (ubiquinone) Fe-S protein 2		NADH(DB00157)	161182256		0.527	ENSG00000158864	10104	g.chr1:161182256C>T	mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding							18.249508	KEEP	2	7	-1	21	18	2	7	-1	21.814843	21	18	0.204545	1	0	0	0	0	0	1	0	0	--	--		0	T			NDUFS2_uc001fyw.2_Nonsense_Mutation_p.R368*|NDUFS2_uc010pkj.1_Nonsense_Mutation_p.R317*|NDUFS2_uc001fyx.2_Nonsense_Mutation_p.R342*|FCER1G_uc001fyz.1_5'Flank|FCER1G_uc001fza.1_5'Flank	166	GBM-19-2629-TP	p.R368*	C	TCCACCTAAGCGAGCAGAGAT	NM_004550	NP_004541	161182256	O75306	NDUS2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.00376)		11	1550	+	T	T	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		Nonsense_Mutation	368						
NDUFS7	374291		GRCh37	19	1397419	1397419	+	downstream_gene_variant	3'Flank	SNP	G	G	A			TCGA-76-6286-01	TCGA-76-6286-01																							ENST00000233627	NM_024407.4			0																																																																																																																																																																																																																																												
NDUFV2	4729	broad.mit.edu	GRCh37	18	9124948	9124948	+	synonymous_variant	Silent	SNP	C	C	T	rs143576401	byFrequency	TCGA-02-2483-01	TCGA-02-2483-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318388.6:c.546C>T	p.Asn182=	p.N182=	ENST00000318388	NM_021074.4	182	aaC/aaT	0	T:0.0027	T:0.003	1	T:0		T	N	uc002knu.2	protein_coding	YES	CCDS11842.1			546/750									ovary(1)	1	c.(544-546)AAC>AAT			hmmpanther:PTHR10371,hmmpanther:PTHR10371:SF3,PROSITE_patterns:PS01099,Gene3D:3.40.30.10,Pfam_domain:PF01257,TIGRFAM_domain:TIGR01958,Superfamily_domains:SSF52833	NADH dehydrogenase ubiquinone flavoprotein 2	NADH(DB00157)	T:0	T:0.0002	ENSP00000327268	T:0	8-Jun	0.000354	0.00292				4.55E-05		0.000611	rs143576401,COSM2149139	8-Jun	common_variant		ENST00000318388	Transcript	1	T:0.0008	cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	ENSG00000178127	g.chr18:9124948C>T	7717			LOW								--	--	1																																			0,1	1			p.N182N	NM_021074	NP_066552	T:0		0,1	NDUV2_HUMAN	NDUFV2	HGNC	P19404	NDUV2_HUMAN					6	613	+			UPI0000052A59	182					SNV	NDUFV2,synonymous_variant,p.=,ENST00000400033,;NDUFV2,synonymous_variant,p.=,ENST00000318388,NM_021074.4;RP11-143J12.2,intron_variant,,ENST00000582375,;RP11-143J12.2,intron_variant,,ENST00000583081,;RP11-21J18.1,non_coding_transcript_exon_variant,,ENST00000579126,;NDUFV2,non_coding_transcript_exon_variant,,ENST00000465096,;RP11-21J18.1,intron_variant,,ENST00000578850,;NDUFV2,upstream_gene_variant,,ENST00000474740,;	uc002knu.2	c.546C>T	660/930	1	1			c.546C>T						18	SNP	c.(544-546)AAC>AAT	1	1			ovary(1)	1	Broad	NADH dehydrogenase ubiquinone flavoprotein 2		NADH(DB00157)	9124948		0.313	ENSG00000178127	10112	g.chr18:9124948C>T	cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity							118.274725	KEEP	24	20	-1	19	28	24	20	-1	118.299891	19	28	0.480519	1	0	0	0	0	0	0	1	0	--	--		0	T				6	GBM-02-2483-TP	p.N182N	C	CCTGTGTGAACGCACCAATGG	NM_021074	NP_066552	9124948	P19404	NDUV2_HUMAN	0			6	613	+	T	T			Silent	182						
NEB	0	broad.mit.edu	GRCh37	2	152477436	152477436	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-12-0616-01	TCGA-12-0616-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000172853.10:c.9828T>C	p.Ser3276=	p.S3276=	ENST00000172853		3276	agT/agC	0			1			G	S	uc010fnx.2	protein_coding					9828/20010									ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20	c.(9826-9828)AGT>AGC			Pfam_domain:PF00880,PROSITE_profiles:PS51216,hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF37,SMART_domains:SM00227	nebulin isoform 3				ENSP00000172853		68/149									COSM2153573,COSM2153572,COSM2153571	68/149	.		ENST00000172853	Transcript	1		muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	ENSG00000183091	g.chr2:152477436A>G	7720			LOW								--	--	1																																			1,1,1				p.S3276S	NM_004543	NP_004534			1,1,1		NEB	HGNC	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	J3QK84_HUMAN		68	10019	-			UPI0000212787	3276			Nebulin 89.		SNV	NEB,synonymous_variant,p.=,ENST00000397345,NM_001164508.1;NEB,synonymous_variant,p.=,ENST00000427231,NM_001164507.1,NM_001271208.1;NEB,synonymous_variant,p.=,ENST00000603639,;NEB,synonymous_variant,p.=,ENST00000604864,;NEB,synonymous_variant,p.=,ENST00000409198,NM_004543.4;NEB,synonymous_variant,p.=,ENST00000172853,;NEB,upstream_gene_variant,,ENST00000486320,;	uc010fnx.2	c.9828T>C	9976/20577	3	3			c.9828T>C						2	SNP	c.(9826-9828)AGT>AGC	53	53			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20	Broad	nebulin isoform 3			152477436		0.358	ENSG00000183091	10114	g.chr2:152477436A>G	muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle							39.373251	KEEP	6	7	-1	6	7	6	7	-1	39.373251	6	7	0.5	1	0	0	0	0	0	0	1	0	--	--		0	G				118	GBM-12-0616-TP	p.S3276S	A	CTCTTACATCACTGGCAATAT	NM_004543	NP_004534	152477436	P20929	NEBU_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.219)	68	10019	-	G	G			Silent	3276			Nebulin 89.			
NEB	0	broad.mit.edu	GRCh37	2	152470900	152470900	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2623-01	TCGA-19-2623-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000172853.10:c.10762C>T	p.Gln3588Ter	p.Q3588*	ENST00000172853		3588	Cag/Tag	0			1			A	Q/*	uc010fnx.2	protein_coding					10762/20010									ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20	c.(10762-10764)CAG>TAG			PROSITE_profiles:PS51216,hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF37,SMART_domains:SM00227	nebulin isoform 3				ENSP00000172853		73/149									COSM3406935,COSM3406934,COSM3406933	73/149	.		ENST00000172853	Transcript	1		muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	ENSG00000183091	g.chr2:152470900G>A	7720			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,152470900,G,A&fts=all	Q3588*	--	--	1																																			1,1,1				p.Q3588*	NM_004543	NP_004534			1,1,1		NEB	HGNC	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	J3QK84_HUMAN		73	10953	-			UPI0000212787	3588			Nebulin 98.		SNV	NEB,stop_gained,p.Gln3831Ter,ENST00000427231,NM_001164507.1,NM_001271208.1;NEB,stop_gained,p.Gln3831Ter,ENST00000397345,NM_001164508.1;NEB,stop_gained,p.Gln3831Ter,ENST00000603639,;NEB,stop_gained,p.Gln3831Ter,ENST00000604864,;NEB,stop_gained,p.Gln3588Ter,ENST00000409198,NM_004543.4;NEB,stop_gained,p.Gln3588Ter,ENST00000172853,;NEB,downstream_gene_variant,,ENST00000486320,;	uc010fnx.2	c.10762C>T	10910/20577	5	2			c.10762C>T						2	SNP	c.(10762-10764)CAG>TAG	45	45			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20	Broad	nebulin isoform 3			152470900		0.527	ENSG00000183091	10114	g.chr2:152470900G>A	muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle							52.910986	KEEP	15	32	-1	176	154	15	32	-1	100.462298	176	154	0.127841	1	0	0	0	0	0	1	0	0	--	--		0	A				163	GBM-19-2623-TP	p.Q3588*	G	ACAAGGATCTGACACTTCTTG	NM_004543	NP_004534	152470900	P20929	NEBU_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.219)	73	10953	-	A	A			Nonsense_Mutation	3588			Nebulin 98.			
NEB	0	broad.mit.edu	GRCh37	2	152518698	152518698	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-2629-01	TCGA-19-2629-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000172853.10:c.5921A>G	p.Asp1974Gly	p.D1974G	ENST00000172853		1974	gAc/gGc	0			1			C	D/G	uc010fnx.2	protein_coding					5921/20010									ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20	c.(5920-5922)GAC>GGC			Pfam_domain:PF00880,PROSITE_profiles:PS51216,hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF37,SMART_domains:SM00227	nebulin isoform 3				ENSP00000172853		46/149									COSM3406941,COSM3406940,COSM3406939	46/149	.		ENST00000172853	Transcript	1		muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	ENSG00000183091	g.chr2:152518698T>C	7720			MODERATE		2.955	medium	getma.org/?cm=msa&ty=f&p=NEBU_HUMAN&rb=1954&re=2022&var=D1974G	NA	getma.org/?cm=var&var=hg19,2,152518698,T,C&fts=all	D1974G	--	--	1																																			1,1,1			probably_damaging(0.997)	p.D1974G	NM_004543	NP_004534			1,1,1		NEB	HGNC	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	J3QK84_HUMAN		46	6112	-			UPI0000212787	1974			Nebulin 52.		SNV	NEB,missense_variant,p.Asp1974Gly,ENST00000427231,NM_001164507.1,NM_001271208.1;NEB,missense_variant,p.Asp1974Gly,ENST00000397345,NM_001164508.1;NEB,missense_variant,p.Asp1974Gly,ENST00000604864,;NEB,missense_variant,p.Asp1974Gly,ENST00000603639,;NEB,missense_variant,p.Asp1974Gly,ENST00000409198,NM_004543.4;NEB,missense_variant,p.Asp1974Gly,ENST00000172853,;	uc010fnx.2	c.5921A>G	6069/20577	3	3			c.5921A>G						2	SNP	c.(5920-5922)GAC>GGC	1	1			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20	Broad	nebulin isoform 3			152518698		0.413	ENSG00000183091	10114	g.chr2:152518698T>C	muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle							121.335277	KEEP	27	14	-1	48	42	27	14	-1	124.580438	48	42	0.321739	1	0	0	0	0	1	0	0	0	--	--		0	C				166	GBM-19-2629-TP	p.D1974G	T	GTTCATCGAGTCCATGAGTGT	NM_004543	NP_004534	152518698	P20929	NEBU_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.219)	46	6112	-	C	C			Missense_Mutation	1974			Nebulin 52.			
NEB	0	broad.mit.edu	GRCh37	2	152484105	152484105	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000172853.10:c.9346G>A	p.Glu3116Lys	p.E3116K	ENST00000172853		3116	Gag/Aag	0	T:0.0002		1			T	E/K	uc010fnx.2	protein_coding					9346/20010									ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20	c.(9346-9348)GAG>AAG			Prints_domain:PR00510,PROSITE_profiles:PS51216,hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF37,SMART_domains:SM00227	nebulin isoform 3			T:0	ENSP00000172853		65/149	9.91E-05	0.000204		0.000116		1.50E-05		0.000484	rs374359052,COSM3406938,COSM3406937,COSM3406936	65/149	common_variant		ENST00000172853	Transcript	1		muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	ENSG00000183091	g.chr2:152484105C>T	7720			MODERATE		0.205	neutral	getma.org/?cm=msa&ty=f&p=NEBU_HUMAN&rb=3085&re=3189&var=E3116K	NA	getma.org/?cm=var&var=hg19,2,152484105,C,T&fts=all	E3116K	--	--	1																																			0,1,1,1			benign(0.093)	p.E3116K	NM_004543	NP_004534			0,1,1,1		NEB	HGNC	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	J3QK84_HUMAN		65	9537	-			UPI0000212787	3116			Nebulin 84.		SNV	NEB,missense_variant,p.Glu3359Lys,ENST00000427231,NM_001164507.1,NM_001271208.1;NEB,missense_variant,p.Glu3359Lys,ENST00000397345,NM_001164508.1;NEB,missense_variant,p.Glu3359Lys,ENST00000603639,;NEB,missense_variant,p.Glu3359Lys,ENST00000604864,;NEB,missense_variant,p.Glu3116Lys,ENST00000409198,NM_004543.4;NEB,missense_variant,p.Glu3116Lys,ENST00000172853,;	uc010fnx.2	c.9346G>A	9494/20577	2	2			c.9346G>A						2	SNP	c.(9346-9348)GAG>AAG	26	26			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20	Broad	nebulin isoform 3			152484105		0.532	ENSG00000183091	10114	g.chr2:152484105C>T	muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle							411.845169	KEEP	76	79	-1	168	171	76	79	-1	423.49024	168	171	0.327273	1	0	0	0	0	1	0	0	0	--	--		0	T				207	GBM-28-1753-TP	p.E3116K	C	CACGTCCACTCGTGCAGGTAG	NM_004543	NP_004534	152484105	P20929	NEBU_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.219)	65	9537	-	T	T			Missense_Mutation	3116			Nebulin 84.			
NEB	0	broad.mit.edu	GRCh37	2	152363440	152363440	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-28-5211-01	TCGA-28-5211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000172853.10:c.18436C>A	p.Gln6146Lys	p.Q6146K	ENST00000172853		6146	Cag/Aag	0			1			T	Q/K	uc010fnx.2	protein_coding					18436/20010									ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20	c.(18436-18438)CAG>AAG			Pfam_domain:PF00880,PROSITE_profiles:PS51216,hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF37,SMART_domains:SM00227	nebulin isoform 3				ENSP00000172853		135/149									COSM3406929,COSM3406928,COSM3406927	135/149	.		ENST00000172853	Transcript	1		muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	ENSG00000183091	g.chr2:152363440G>T	7720			MODERATE		2.835	medium	getma.org/?cm=msa&ty=f&p=NEBU_HUMAN&rb=6115&re=6178&var=Q6146K	NA	getma.org/?cm=var&var=hg19,2,152363440,G,T&fts=all	Q6146K	--	--	1																																		NEB_uc002txr.2_Missense_Mutation_p.Q2569K|RIF1_uc002txp.2_Intron|NEB_uc010zca.1_5'Flank|NEB_uc010zcb.1_5'UTR|NEB_uc002txt.3_Missense_Mutation_p.Q651K	1,1,1			probably_damaging(0.968)	p.Q6146K	NM_004543	NP_004534			1,1,1		NEB	HGNC	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	J3QK84_HUMAN		135	18627	-			UPI0000212787	6146			Nebulin 168.		SNV	NEB,missense_variant,p.Gln7847Lys,ENST00000397345,NM_001164508.1;NEB,missense_variant,p.Gln7847Lys,ENST00000427231,NM_001164507.1,NM_001271208.1;NEB,missense_variant,p.Gln7847Lys,ENST00000603639,;NEB,missense_variant,p.Gln7847Lys,ENST00000604864,;NEB,missense_variant,p.Gln6146Lys,ENST00000409198,NM_004543.4;NEB,missense_variant,p.Gln6146Lys,ENST00000172853,;NEB,missense_variant,p.Gln2577Lys,ENST00000413693,;NEB,missense_variant,p.Gln43Lys,ENST00000397337,;NEB,missense_variant,p.Gln24Lys,ENST00000421461,;NEB,missense_variant,p.Gln74Lys,ENST00000424585,;NEB,5_prime_UTR_variant,,ENST00000509223,;NEB,intron_variant,,ENST00000434685,;NEB,upstream_gene_variant,,ENST00000397336,;NEB,non_coding_transcript_exon_variant,,ENST00000498015,;RIF1,intron_variant,,ENST00000467762,;RIF1,intron_variant,,ENST00000454583,;	uc010fnx.2	c.18436C>A	18584/20577	2	2			c.18436C>A						2	SNP	c.(18436-18438)CAG>AAG	36	36			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20	Broad	nebulin isoform 3			152363440		0.318	ENSG00000183091	10114	g.chr2:152363440G>T	muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle							48.421828	KEEP	18	12	0.6	52	39	18	12	0.6	54.240305	52	39	0.261261	1	0	0	0	0	1	0	0	0	--	--		0	T			NEB_uc002txr.2_Missense_Mutation_p.Q2569K|RIF1_uc002txp.2_Intron|NEB_uc010zca.1_5'Flank|NEB_uc010zcb.1_5'UTR|NEB_uc002txt.3_Missense_Mutation_p.Q651K	219	GBM-28-5211-TP	p.Q6146K	G	AAATTCTTCTGATTTTCTTTT	NM_004543	NP_004534	152363440	P20929	NEBU_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.219)	135	18627	-	T	T			Missense_Mutation	6146			Nebulin 168.			
NEB	0	broad.mit.edu	GRCh37	2	152580858	152580858	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-41-3392-01	TCGA-41-3392-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000172853.10:c.528G>A	p.Trp176Ter	p.W176*	ENST00000172853		176	tgG/tgA	0			1			T	W/*	uc010fnx.2	protein_coding					528/20010									ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20	c.(526-528)TGG>TGA			Pfam_domain:PF00880,PROSITE_profiles:PS51216,hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF37,SMART_domains:SM00227	nebulin isoform 3				ENSP00000172853		8/149									COSM1482043,COSM1482042,COSM1482041	8/149	.		ENST00000172853	Transcript	1		muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	ENSG00000183091	g.chr2:152580858C>T	7720			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,152580858,C,T&fts=all	W176*	--	--	1																																			1,1,1				p.W176*	NM_004543	NP_004534			1,1,1		NEB	HGNC	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	J3QK84_HUMAN		8	719	-			UPI0000212787	176			Nebulin 3.		SNV	NEB,stop_gained,p.Trp176Ter,ENST00000427231,NM_001164507.1,NM_001271208.1;NEB,stop_gained,p.Trp176Ter,ENST00000397345,NM_001164508.1;NEB,stop_gained,p.Trp176Ter,ENST00000603639,;NEB,stop_gained,p.Trp176Ter,ENST00000604864,;NEB,stop_gained,p.Trp176Ter,ENST00000409198,NM_004543.4;NEB,stop_gained,p.Trp176Ter,ENST00000172853,;	uc010fnx.2	c.528G>A	676/20577	5	2			c.528G>A						2	SNP	c.(526-528)TGG>TGA	20	20			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20	Broad	nebulin isoform 3			152580858		0.493	ENSG00000183091	10114	g.chr2:152580858C>T	muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle							32.413302	KEEP	3	8	-1	15	12	3	8	-1	33.353137	15	12	0.323529	1	0	0	0	0	0	1	0	0	--	--		0	T				254	GBM-41-3392-TP	p.W176*	C	TGGTGTCTTCCCAGTTCTGCT	NM_004543	NP_004534	152580858	P20929	NEBU_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.219)	8	719	-	T	T			Nonsense_Mutation	176			Nebulin 3.			
NEB	4703		GRCh37	2	152472597	152472597	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000397345.3:c.11208G>C	p.Glu3736Asp	p.E3736D	ENST00000397345	NM_001164508.1	3736	gaG/gaC	0																																																																																																																																																																																																																																												
NEBL	0	broad.mit.edu	GRCh37	10	21112168	21112168	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377122.4:c.1931G>A	p.Arg644Lys	p.R644K	ENST00000377122	NM_006393.2	644	aGa/aAa	0			1			T	R/K	uc001iqi.2	protein_coding	YES	CCDS7134.1			1931/3045									ovary(2)	2	c.(1930-1932)AGA>AAA			Pfam_domain:PF00880,PROSITE_profiles:PS51216,hmmpanther:PTHR11039,SMART_domains:SM00227	nebulette sarcomeric isoform				ENSP00000366326		19/28									COSM3397038	19/28	.		ENST00000377122	Transcript			regulation of actin filament length		actin binding|structural constituent of muscle	ENSG00000078114	g.chr10:21112168C>T	16932			MODERATE		3.36	medium	getma.org/?cm=msa&ty=f&p=NEBL_HUMAN&rb=618&re=685&var=R644K	NA	getma.org/?cm=var&var=hg19,10,21112168,C,T&fts=all	R644K	--	--	1																																		NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA	1	1		benign(0.042)	p.R644K	NM_006393	NP_006384		deleterious(0.01)	1	NEBL_HUMAN	NEBL	HGNC	O76041	NEBL_HUMAN			B0YJ47_HUMAN		19	2328	-			UPI000012FEE8	644			Nebulin 18.		SNV	NEBL,missense_variant,p.Arg644Lys,ENST00000377122,NM_006393.2;NEBL,intron_variant,,ENST00000417816,NM_001173484.1,NM_213569.2;NEBL,intron_variant,,ENST00000377159,;NEBL,non_coding_transcript_exon_variant,,ENST00000460652,;NEBL,non_coding_transcript_exon_variant,,ENST00000493005,;NEBL,upstream_gene_variant,,ENST00000481592,;	uc001iqi.2	c.1931G>A	2328/9216	2	2			c.1931G>A						10	SNP	c.(1930-1932)AGA>AAA	21	21			ovary(2)	2	Broad	nebulette sarcomeric isoform			21112168		0.284	ENSG00000078114	10115	g.chr10:21112168C>T	regulation of actin filament length		actin binding|structural constituent of muscle							120.372281	KEEP	23	23	-1	9	7	23	23	-1	123.048825	9	7	0.755556	1	0	0	0	0	1	0	0	0	--	--		0	T			NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA	269	GBM-76-4929-TP	p.R644K	C	TTCTTTAACTCTCTTTAGTTC	NM_006393	NP_006384	21112168	O76041	NEBL_HUMAN	0			19	2328	-	T	T			Missense_Mutation	644			Nebulin 18.			
NEBL	10529		GRCh37	10	21185902	21185902	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000377122.4:c.138G>A	p.Thr46=	p.T46=	ENST00000377122	NM_006393.2	46	acG/acA	0																																																																																																																																																																																																																																												
NEBL-AS1	100128511	broad.mit.edu	GRCh37	10	21461321	21461321	+	upstream_gene_variant	5'Flank	SNP	T	T	C			TCGA-02-2470-01	TCGA-02-2470-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.				ENST00000439097				0			1			C		uc001iqk.2	antisense	YES													ovary(2)	2	c.(154-156)TAT>TGT	1622			nebulette non-muscle isoform															COSM2149117		.		ENST00000439097	Transcript			regulation of actin filament length		actin binding|structural constituent of muscle	ENSG00000231920	g.chr10:21461321T>C	44899			MODIFIER		2.905	medium	getma.org/?cm=msa&ty=f&p=B7ZB56_HUMAN&rb=1&re=56&var=Y12C	NA	getma.org/?cm=var&var=hg19,10,21461321,T,C&fts=all	Y12C	--	--	1																																			1	1			p.Y52C	NM_213569	NP_998734			1		NEBL-AS1	HGNC	O76041	NEBL_HUMAN					2	509	-				Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					SNV	NEBL,missense_variant,p.Tyr52Cys,ENST00000417816,NM_001173484.1,NM_213569.2;NEBL-AS1,upstream_gene_variant,,ENST00000439097,;NEBL-AS1,upstream_gene_variant,,ENST00000417845,;NEBL,non_coding_transcript_exon_variant,,ENST00000464278,;NEBL,non_coding_transcript_exon_variant,,ENST00000485750,;	uc001iqk.2	c.155A>G	-/661	3	3			c.155A>G						10	SNP	c.(154-156)TAT>TGT	4	4			ovary(2)	2	Broad	nebulette non-muscle isoform			21461321		0.438	ENSG00000231920	10115	g.chr10:21461321T>C	regulation of actin filament length		actin binding|structural constituent of muscle							135.144853	KEEP	22	18	-1	25	24	22	18	-1	135.27295	25	24	0.457831	1	0	0	0	0	1	0	0	0	--	--		0	C				5	GBM-02-2470-TP	p.Y52C	T	CGCATTACAATAGGGCTTCTT	NM_213569	NP_998734	21461321	O76041	NEBL_HUMAN	0			2	509	-	C	C			Missense_Mutation	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						
NECAB2	0	broad.mit.edu	GRCh37	16	84035467	84035467	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305202.4:c.1078G>A	p.Val360Ile	p.V360I	ENST00000305202	NM_019065.2	360	Gtc/Atc	0		A:0	1	A:0		A	V/I	uc002fhd.2	protein_coding	YES	CCDS10940.1			1078/1161									ovary(2)	2	c.(1078-1080)GTC>ATC			hmmpanther:PTHR12178,hmmpanther:PTHR12178:SF2,Gene3D:3.30.70.900,Superfamily_domains:SSF54909	neuronal calcium-binding protein 2		A:0.001		ENSP00000307449	A:0	13-Dec	0.00014			0.000348		0.000166		0.000182	rs547664063,COSM2155263	13-Dec	.		ENST00000305202	Transcript		A:0.0004	antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding	ENSG00000103154	g.chr16:84035467G>A	23746			MODERATE		1.775	low	getma.org/?cm=msa&ty=f&p=NECA2_HUMAN&rb=286&re=360&var=V360I	NA	getma.org/?cm=var&var=hg19,16,84035467,G,A&fts=all	V360I	--	--	1																																		NECAB2_uc002fhe.2_Missense_Mutation_p.V277I	0,1	1		benign(0.131)	p.V360I	NM_019065	NP_061938	A:0.001	tolerated(0.1)	0,1	NECA2_HUMAN	NECAB2	HGNC	Q7Z6G3	NECA2_HUMAN					12	1095	+			UPI00001A9944	360			ABM.		SNV	NECAB2,missense_variant,p.Val277Ile,ENST00000565691,;NECAB2,missense_variant,p.Val360Ile,ENST00000305202,NM_019065.2;NECAB2,missense_variant,p.Val36Ile,ENST00000564166,;NECAB2,downstream_gene_variant,,ENST00000566836,;NECAB2,downstream_gene_variant,,ENST00000567703,;	uc002fhd.2	c.1078G>A	1095/1608	2	2			c.1078G>A						16	SNP	c.(1078-1080)GTC>ATC	43	43			ovary(2)	2	Broad	neuronal calcium-binding protein 2			84035467		0.647	ENSG00000103154	10117	g.chr16:84035467G>A	antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding							67.116677	KEEP	11	15	-1	28	21	11	15	-1	68.181869	28	21	0.363636	1	0	0	0	0	1	0	0	0	--	--		0	A			NECAB2_uc002fhe.2_Missense_Mutation_p.V277I	142	GBM-14-1034-TP	p.V360I	G	GTTCCGGCACGTCAAGGTGGA	NM_019065	NP_061938	84035467	Q7Z6G3	NECA2_HUMAN	0			12	1095	+	A	A			Missense_Mutation	360			ABM.			
NECAP2	0	broad.mit.edu	GRCh37	1	16778338	16778338	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337132.5:c.495G>A	p.Met165Ile	p.M165I	ENST00000337132	NM_018090.4	165	atG/atA	0			1			A	M/I	uc001ayo.2	protein_coding		CCDS173.1			495/792										0	c.(493-495)ATG>ATA			hmmpanther:PTHR12847,hmmpanther:PTHR12847:SF2	NECAP endocytosis associated 2 isoform 1				ENSP00000338746		8-Jun									COSM3747805,COSM3747804	8-Jun	.		ENST00000337132	Transcript			endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane		ENSG00000157191	g.chr1:16778338G>A	25528			MODERATE		0.29	neutral	getma.org/?cm=msa&ty=f&p=NECP2_HUMAN&rb=165&re=263&var=M165I	NA	getma.org/?cm=var&var=hg19,1,16778338,G,A&fts=all	M165I			1																																		NECAP2_uc001ayp.3_RNA|NECAP2_uc010ocd.1_Missense_Mutation_p.M139I|NECAP2_uc001ayq.2_Missense_Mutation_p.M165I	1,1			benign(0)	p.M165I	NM_018090	NP_060560		tolerated(1)	1,1	NECP2_HUMAN	NECAP2	HGNC	Q9NVZ3	NECP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)			6	585	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	UPI000006F33F	165					SNV	NECAP2,missense_variant,p.Met165Ile,ENST00000337132,NM_018090.4,NM_001145278.1;NECAP2,missense_variant,p.Met165Ile,ENST00000443980,NM_001145277.1;NECAP2,missense_variant,p.Met165Ile,ENST00000406746,;NECAP2,missense_variant,p.Met139Ile,ENST00000457722,;NECAP2,missense_variant,p.Met104Ile,ENST00000504551,;NECAP2,downstream_gene_variant,,ENST00000508680,;NECAP2,missense_variant,p.Met165Ile,ENST00000492095,;NECAP2,3_prime_UTR_variant,,ENST00000459640,;NECAP2,3_prime_UTR_variant,,ENST00000504858,;NECAP2,3_prime_UTR_variant,,ENST00000513161,;NECAP2,non_coding_transcript_exon_variant,,ENST00000496239,;NECAP2,upstream_gene_variant,,ENST00000509727,;	uc001ayo.2	c.495G>A	585/2070	2	2			c.495G>A						1	SNP	c.(493-495)ATG>ATA	35	35				0	Broad	NECAP endocytosis associated 2 isoform 1			16778338		0.602	ENSG00000157191	10120	g.chr1:16778338G>A	endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane								487.000322	KEEP	115	80	-1	96	72	115	80	-1	487.151475	96	72	0.52381	1	0	0	0	0	1	0	0	0				0	A			NECAP2_uc001ayp.3_RNA|NECAP2_uc010ocd.1_Missense_Mutation_p.M139I|NECAP2_uc001ayq.2_Missense_Mutation_p.M165I	129	GBM-12-5295-TP	p.M165I	G	TTTAGAACATGAAGAAGAAGG	NM_018090	NP_060560	16778338	Q9NVZ3	NECP2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	6	585	+	A	A		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	Missense_Mutation	165						
NEDD1	0	broad.mit.edu	GRCh37	12	97345747	97345747	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2624-01	TCGA-19-2624-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266742.4:c.1899G>A	p.Leu633=	p.L633=	ENST00000266742	NM_152905.3	633	ctG/ctA	0			1			A	L	uc001teu.3	protein_coding		CCDS9063.1			1899/1983										0	c.(1897-1899)CTG>CTA			hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF333	neural precursor cell expressed, developmentally				ENSP00000266742		16/16	8.24E-06					1.52E-05			rs772224446,COSM2156230,COSM3399206	16/16	.		ENST00000266742	Transcript			cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol		ENSG00000139350	g.chr12:97345747G>A	7723			LOW								--	--	1																																		NEDD1_uc001tev.3_Silent_p.L633L|NEDD1_uc010svc.1_Silent_p.L544L|NEDD1_uc001tew.2_Silent_p.L640L|NEDD1_uc001tex.2_Silent_p.L544L	0,1,1				p.L633L	NM_152905	NP_690869			0,1,1	NEDD1_HUMAN	NEDD1	HGNC	Q8NHV4	NEDD1_HUMAN			G3V4L2_HUMAN,G3V4I9_HUMAN,G3V2M9_HUMAN		16	2238	+			UPI000004F17B	633					SNV	NEDD1,synonymous_variant,p.=,ENST00000266742,NM_152905.3;NEDD1,synonymous_variant,p.=,ENST00000429527,NM_001135176.1;NEDD1,synonymous_variant,p.=,ENST00000457368,;NEDD1,synonymous_variant,p.=,ENST00000411739,NM_001135177.1;NEDD1,synonymous_variant,p.=,ENST00000557644,NM_001135175.1;	uc001teu.3	c.1899G>A	2238/3620	2	2			c.1899G>A						12	SNP	c.(1897-1899)CTG>CTA	34	34				0	Broad	neural precursor cell expressed, developmentally			97345747		0.323	ENSG00000139350	10121	g.chr12:97345747G>A	cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol								74.999623	KEEP	15	12	-1	14	9	15	12	-1	75.042831	14	9	0.533333	1	0	0	0	0	0	0	1	0	--	--		0	A			NEDD1_uc001tev.3_Silent_p.L633L|NEDD1_uc010svc.1_Silent_p.L544L|NEDD1_uc001tew.2_Silent_p.L640L|NEDD1_uc001tex.2_Silent_p.L544L	164	GBM-19-2624-TP	p.L633L	G	ATTCTTTGCTGGAAAGATACT	NM_152905	NP_690869	97345747	Q8NHV4	NEDD1_HUMAN	0			16	2238	+	A	A			Silent	633						
NEDD4	4734	broad.mit.edu	GRCh37	15	56208834	56208834	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01	TCGA-06-0126-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338963.2:c.196G>A	p.Val66Ile	p.V66I	ENST00000338963	NM_198400.2	66	Gtt/Att	0			1			T	V/I	uc002adj.2	protein_coding		CCDS61644.1			196/3960									skin(2)|ovary(1)|breast(1)	4	c.(196-198)GTT>ATT				neural precursor cell expressed, developmentally				ENSP00000424827		25-Jan	1.65E-05					3.00E-05			rs753990774,COSM2149456	25-Jan	.		ENST00000508342	Transcript			development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	ENSG00000069869	g.chr15:56208834C>T	7727			MODERATE								--	--	1																																		NEDD4_uc002adl.2_Intron|NEDD4_uc002adi.2_Missense_Mutation_p.V66I|NEDD4_uc010ugj.1_Missense_Mutation_p.V66I|NEDD4_uc010bfm.2_Missense_Mutation_p.V66I|NEDD4_uc002adk.2_RNA	0,1			benign(0)	p.V66I	NM_198400	NP_006145		tolerated_low_confidence(0.67)	0,1	NEDD4_HUMAN	NEDD4	HGNC	P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)			1	496	-			UPI00001FE52D	66					SNV	NEDD4,missense_variant,p.Val66Ile,ENST00000508342,NM_001284338.1;NEDD4,missense_variant,p.Val66Ile,ENST00000338963,NM_198400.2;NEDD4,missense_variant,p.Val66Ile,ENST00000506154,NM_001284339.1;NEDD4,intron_variant,,ENST00000435532,NM_006154.2;NEDD4,upstream_gene_variant,,ENST00000508871,NM_001284340.1;NEDD4,intron_variant,,ENST00000514893,;NEDD4,intron_variant,,ENST00000502612,;NEDD4,intron_variant,,ENST00000507063,;NEDD4,upstream_gene_variant,,ENST00000503468,;	uc002adj.2	c.196G>A	496/7235	2	2			c.196G>A						15	SNP	c.(196-198)GTT>ATT	24	24			skin(2)|ovary(1)|breast(1)	4	Broad	neural precursor cell expressed, developmentally			56208834		0.408	ENSG00000069869	10122	g.chr15:56208834C>T	development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity							248.305861	KEEP	60	32	-1	86	79	60	32	-1	252.585344	86	79	0.357143	1	0	0	0	0	1	0	0	0	--	--		0	T			NEDD4_uc002adl.2_Intron|NEDD4_uc002adi.2_Missense_Mutation_p.V66I|NEDD4_uc010ugj.1_Missense_Mutation_p.V66I|NEDD4_uc010bfm.2_Missense_Mutation_p.V66I|NEDD4_uc002adk.2_RNA	13	GBM-06-0126-TP	p.V66I	C	TGAGACTGAACGTTTTCCTTT	NM_198400	NP_006145	56208834	P46934	NEDD4_HUMAN	0		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	1	496	-	T	T			Missense_Mutation	66						
NEDD4	4734		GRCh37	15	56207523	56207523	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000338963.2:c.1507A>C	p.Ser503Arg	p.S503R	ENST00000338963	NM_198400.2	503	Agc/Cgc	0																																																																																																																																																																																																																																												
NEDD4L	0	broad.mit.edu	GRCh37	18	55992284	55992286	+	inframe_deletion	In_Frame_Del	DEL	TCC	TCC	-			TCGA-14-1450-01	TCGA-14-1450-01	TCC	TCC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400345.3:c.581_583delCTC	p.Pro194del	p.P194del	ENST00000400345	NM_001144967.2	190	ctTCCt/ctt	0			1			-	LP/L	uc002lgy.2	protein_coding	YES	CCDS45872.1			570-572/2928									lung(4)	4	c.(568-573)CTTCCT>CTT			PIRSF_domain:PIRSF001569,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF310,Low_complexity_(Seg):seg,Superfamily_domains:SSF51045	neural precursor cell expressed, developmentally				ENSP00000383199		Sep-31	0.000207	0.000102	8.64E-05			6.00E-05		0.00104	rs773230843,COSM1258944,COSM1258943	Sep-31	common_variant		ENST00000400345	Transcript			cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	ENSG00000049759	g.chr18:55992284_55992286delTCC	7728	11		MODERATE								--	--	1																																		NEDD4L_uc002lgz.2_In_Frame_Del_p.P194del|NEDD4L_uc002lgx.2_In_Frame_Del_p.P194del|NEDD4L_uc010xee.1_In_Frame_Del_p.P73del|NEDD4L_uc002lhc.2_In_Frame_Del_p.P186del|NEDD4L_uc002lhd.2_In_Frame_Del_p.P73del|NEDD4L_uc002lhb.2_In_Frame_Del_p.P73del|NEDD4L_uc002lhe.2_In_Frame_Del_p.P186del|NEDD4L_uc002lhf.2_In_Frame_Del_p.P73del|NEDD4L_uc002lhg.2_In_Frame_Del_p.P73del|NEDD4L_uc002lhh.2_In_Frame_Del_p.P73del|NEDD4L_uc010dpm.1_In_Frame_Del_p.P45del	0,1,1	1			p.P194del	NM_001144967	NP_001138439			0,1,1	NED4L_HUMAN	NEDD4L	HGNC	Q96PU5	NED4L_HUMAN			K7ENS6_HUMAN,K7EN51_HUMAN		9	844_846	+			UPI000058E3AE	194			WW 1.		deletion	NEDD4L,inframe_deletion,p.Pro73del,ENST00000456986,NM_001144964.1;NEDD4L,inframe_deletion,p.Pro73del,ENST00000256832,;NEDD4L,inframe_deletion,p.Pro194del,ENST00000382850,NM_015277.5;NEDD4L,inframe_deletion,p.Pro73del,ENST00000456173,NM_001144970.2;NEDD4L,inframe_deletion,p.Pro194del,ENST00000400345,NM_001144967.2;NEDD4L,inframe_deletion,p.Pro186del,ENST00000357895,NM_001144968.1,NM_001144965.1;NEDD4L,inframe_deletion,p.Pro73del,ENST00000435432,NM_001144971.1;NEDD4L,inframe_deletion,p.Pro186del,ENST00000586263,NM_001144969.1;NEDD4L,inframe_deletion,p.Pro73del,ENST00000431212,NM_001144966.2;NEDD4L,inframe_deletion,p.Pro194del,ENST00000356462,NM_001243960.1;NEDD4L,inframe_deletion,p.Pro194del,ENST00000256830,;NEDD4L,inframe_deletion,p.Pro28del,ENST00000587881,;NEDD4L,inframe_deletion,p.Pro73del,ENST00000586268,;NEDD4L,intron_variant,,ENST00000589054,;NEDD4L,downstream_gene_variant,,ENST00000587190,;NEDD4L,downstream_gene_variant,,ENST00000588494,;NEDD4L,downstream_gene_variant,,ENST00000592846,;NEDD4L,non_coding_transcript_exon_variant,,ENST00000588066,;NEDD4L,non_coding_transcript_exon_variant,,ENST00000592601,;NEDD4L,downstream_gene_variant,,ENST00000587634,;NEDD4L,non_coding_transcript_exon_variant,,ENST00000590020,;	uc002lgy.2	c.570_572delTCC	853-855/3647	5	5			c.570_572delTCC						18	DEL	c.(568-573)CTTCCT>CTT	53	53			lung(4)	4	Broad	neural precursor cell expressed, developmentally			55992286		0.498	ENSG00000049759	10123	g.chr18:55992284_55992286delTCC	cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity																				0.03	1	1	0	1	0	0	0	0	0	--	--		0	-			NEDD4L_uc002lgz.2_In_Frame_Del_p.P194del|NEDD4L_uc002lgx.2_In_Frame_Del_p.P194del|NEDD4L_uc010xee.1_In_Frame_Del_p.P73del|NEDD4L_uc002lhc.2_In_Frame_Del_p.P186del|NEDD4L_uc002lhd.2_In_Frame_Del_p.P73del|NEDD4L_uc002lhb.2_In_Frame_Del_p.P73del|NEDD4L_uc002lhe.2_In_Frame_Del_p.P186del|NEDD4L_uc002lhf.2_In_Frame_Del_p.P73del|NEDD4L_uc002lhg.2_In_Frame_Del_p.P73del|NEDD4L_uc002lhh.2_In_Frame_Del_p.P73del|NEDD4L_uc010dpm.1_In_Frame_Del_p.P45del	145	GBM-14-1450-TP	p.P194del	TCC	AAGAGGAACTTCCTCCTCCTCCT	NM_001144967	NP_001138439	55992284	Q96PU5	NED4L_HUMAN	0			9	844_846	+	-	-			In_Frame_Del	194			WW 1.			
NEDD4L	23327		GRCh37	18	55916158	55916158	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000400345.3:c.235del	p.Tyr79IlefsTer4	p.Y79Ifs*4	ENST00000400345	NM_001144967.2	78	Ttt/tt	0																																																																																																																																																																																																																																												
NEFH	0	broad.mit.edu	GRCh37	22	29886478	29886478	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-28-5204-01	TCGA-28-5204-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310624.6:c.2849delC	p.Ala950GlufsTer106	p.A950Efs*106	ENST00000310624	NM_021076.3	950	gCa/ga	0			1			-	A/X	uc003afo.2	protein_coding	YES	CCDS13858.1			2849/3063										0	c.(2848-2850)GCAfs			Low_complexity_(Seg):seg,hmmpanther:PTHR23214:SF1,hmmpanther:PTHR23214	neurofilament, heavy polypeptide 200kDa				ENSP00000311997		4-Apr										4-Apr	.		ENST00000310624	Transcript	1		cell death|nervous system development	neurofilament		ENSG00000100285	g.chr22:29886478delC	7737			HIGH								--	--	1																																		NEFH_uc003afp.2_Frame_Shift_Del_p.Q16fs		1			p.A950fs	NM_021076	NP_066554				NFH_HUMAN	NEFH	HGNC	P12036	NFH_HUMAN					4	2920	+			UPI00001AEF71	956			Tail.		deletion	NEFH,frameshift_variant,p.Ala950GlufsTer106,ENST00000310624,NM_021076.3;	uc003afo.2	c.2849delC	2882/3783	5	5			c.2849delC						22	DEL	c.(2848-2850)GCAfs	17	17				0	Broad	neurofilament, heavy polypeptide 200kDa			29886478		0.512	ENSG00000100285	10126	g.chr22:29886478delC	cell death|nervous system development	neurofilament																					0.37	1	1	0	1	0	0	0	0	0	--	--		0	-			NEFH_uc003afp.2_Frame_Shift_Del_p.Q16fs	215	GBM-28-5204-TP	p.A950fs	C	AAGAAGGAGGCAGCACCGGAG	NM_021076	NP_066554	29886478	P12036	NFH_HUMAN	0			4	2920	+	-	-			Frame_Shift_Del	956			Tail.			
NEFH	0	broad.mit.edu	GRCh37	22	29886360	29886360	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-4209-01	TCGA-32-4209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310624.6:c.2731C>A	p.Pro911Thr	p.P911T	ENST00000310624	NM_021076.3	911	Cct/Act	0			1			A	P/T	uc003afo.2	protein_coding	YES	CCDS13858.1			2731/3063										0	c.(2731-2733)CCT>ACT			Low_complexity_(Seg):seg,hmmpanther:PTHR23214:SF1,hmmpanther:PTHR23214	neurofilament, heavy polypeptide 200kDa				ENSP00000311997		4-Apr									COSM3405579	4-Apr	.		ENST00000310624	Transcript	1		cell death|nervous system development	neurofilament		ENSG00000100285	g.chr22:29886360C>A	7737			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=NFH_HUMAN&rb=825&re=1024&var=P917T	NA	getma.org/?cm=var&var=hg19,22,29886360,C,A&fts=all	P917T	--	--	1																																		NEFH_uc003afp.2_5'UTR	1	1		unknown(0)	p.P911T	NM_021076	NP_066554		deleterious_low_confidence(0)	1	NFH_HUMAN	NEFH	HGNC	P12036	NFH_HUMAN					4	2802	+			UPI00001AEF71	917			Tail.		SNV	NEFH,missense_variant,p.Pro911Thr,ENST00000310624,NM_021076.3;	uc003afo.2	c.2731C>A	2764/3783	2	2			c.2731C>A						22	SNP	c.(2731-2733)CCT>ACT	24	24				0	Broad	neurofilament, heavy polypeptide 200kDa			29886360		0.502	ENSG00000100285	10126	g.chr22:29886360C>A	cell death|nervous system development	neurofilament								4.168372	KEEP	2	2	0.5	26	16	2	2	0.5	10.817753	26	16	0.097561	1	0	0	0	0	1	0	0	0	--	--		0	A			NEFH_uc003afp.2_5'UTR	244	GBM-32-4209-TP	p.P911T	C	GAAGGAGGCTCCTGCCAAGGT	NM_021076	NP_066554	29886360	P12036	NFH_HUMAN	0			4	2802	+	A	A			Missense_Mutation	917			Tail.			
NEFM	4741	broad.mit.edu	GRCh37	8	24772112	24772112	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221166.5:c.806C>T	p.Ala269Val	p.A269V	ENST00000221166		269	gCg/gTg	0			1			T	A/V	uc003xed.3	protein_coding	YES	CCDS6046.1			806/2751									breast(1)	1	c.(805-807)GCG>GTG			hmmpanther:PTHR23239:SF19,hmmpanther:PTHR23239,Pfam_domain:PF00038,Prints_domain:PR01248	neurofilament, medium polypeptide 150kDa isoform				ENSP00000221166		3-Jan									COSM1098384	3-Jan	.		ENST00000221166	Transcript				neurofilament	protein binding|structural constituent of cytoskeleton	ENSG00000104722	g.chr8:24772112C>T	7734			MODERATE		1.3	low	getma.org/?cm=msa&ty=f&p=NFM_HUMAN&rb=100&re=411&var=A269V	getma.org/pdb.php?prot=NFM_HUMAN&from=100&to=411&var=A269V	getma.org/?cm=var&var=hg19,8,24772112,C,T&fts=all	A269V	--	--	1																																		NEFM_uc011lac.1_Missense_Mutation_p.A269V|NEFM_uc010lue.2_5'Flank|uc010luc.1_5'UTR	1	1		unknown(0)	p.A269V	NM_005382	NP_005373		deleterious(0)	1	NFM_HUMAN	NEFM	HGNC	P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)			1	839	+		Prostate(55;0.157)	UPI000013C7A9	269			Rod.|Coil 2A.		SNV	NEFM,missense_variant,p.Ala269Val,ENST00000221166,;NEFM,missense_variant,p.Ala269Val,ENST00000437366,NM_005382.2;NEFM,missense_variant,p.Ala269Val,ENST00000518131,;NEFM,upstream_gene_variant,,ENST00000433454,NM_001105541.1;GS1-72M22.1,non_coding_transcript_exon_variant,,ENST00000607058,;RP11-624C23.1,upstream_gene_variant,,ENST00000519689,;NEFM,non_coding_transcript_exon_variant,,ENST00000521540,;NEFM,non_coding_transcript_exon_variant,,ENST00000523467,;	uc003xed.3	c.806C>T	1588/4020	2	2			c.806C>T						8	SNP	c.(805-807)GCG>GTG	47	47			breast(1)	1	Broad	neurofilament, medium polypeptide 150kDa isoform			24772112		0.592	ENSG00000104722	10128	g.chr8:24772112C>T		neurofilament	protein binding|structural constituent of cytoskeleton							50.202588	KEEP	9	12	-1	24	31	9	12	-1	53.174214	24	31	0.279412	1	0	0	0	0	1	0	0	0	--	--		0	T			NEFM_uc011lac.1_Missense_Mutation_p.A269V|NEFM_uc010lue.2_5'Flank|uc010luc.1_5'UTR	5	GBM-02-2470-TP	p.A269V	C	ATCTCGACGGCGCTGAAGGAA	NM_005382	NP_005373	24772112	P07197	NFM_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	1	839	+	T	T		Prostate(55;0.157)	Missense_Mutation	269			Rod.|Coil 2A.			
NEFM	0	broad.mit.edu	GRCh37	8	24772136	24772136	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-27-2527-01	TCGA-27-2527-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221166.5:c.830T>C	p.Leu277Pro	p.L277P	ENST00000221166		277	cTc/cCc	0			1			C	L/P	uc003xed.3	protein_coding	YES	CCDS6046.1			830/2751									breast(1)	1	c.(829-831)CTC>CCC			hmmpanther:PTHR23239:SF19,hmmpanther:PTHR23239,Pfam_domain:PF00038	neurofilament, medium polypeptide 150kDa isoform				ENSP00000221166		3-Jan									COSM3412933	3-Jan	.		ENST00000221166	Transcript				neurofilament	protein binding|structural constituent of cytoskeleton	ENSG00000104722	g.chr8:24772136T>C	7734			MODERATE		2.425	medium	getma.org/?cm=msa&ty=f&p=NFM_HUMAN&rb=100&re=411&var=L277P	getma.org/pdb.php?prot=NFM_HUMAN&from=100&to=411&var=L277P	getma.org/?cm=var&var=hg19,8,24772136,T,C&fts=all	L277P	--	--	1																																		NEFM_uc011lac.1_Missense_Mutation_p.L277P|NEFM_uc010lue.2_5'Flank|uc010luc.1_5'UTR	1	1		unknown(0)	p.L277P	NM_005382	NP_005373		deleterious(0)	1	NFM_HUMAN	NEFM	HGNC	P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)			1	863	+		Prostate(55;0.157)	UPI000013C7A9	277			Rod.|Coil 2A.		SNV	NEFM,missense_variant,p.Leu277Pro,ENST00000221166,;NEFM,missense_variant,p.Leu277Pro,ENST00000437366,NM_005382.2;NEFM,missense_variant,p.Leu277Pro,ENST00000518131,;NEFM,upstream_gene_variant,,ENST00000433454,NM_001105541.1;GS1-72M22.1,non_coding_transcript_exon_variant,,ENST00000607058,;RP11-624C23.1,upstream_gene_variant,,ENST00000519689,;NEFM,non_coding_transcript_exon_variant,,ENST00000521540,;NEFM,non_coding_transcript_exon_variant,,ENST00000523467,;	uc003xed.3	c.830T>C	1612/4020	3	3			c.830T>C						8	SNP	c.(829-831)CTC>CCC	55	55			breast(1)	1	Broad	neurofilament, medium polypeptide 150kDa isoform			24772136		0.587	ENSG00000104722	10128	g.chr8:24772136T>C		neurofilament	protein binding|structural constituent of cytoskeleton							-12.345328	KEEP	0	5	-1	47	54	0	5	-1	7.312735	47	54	0.035714	1	0	0	0	0	1	0	0	0	--	--		0	C			NEFM_uc011lac.1_Missense_Mutation_p.L277P|NEFM_uc010lue.2_5'Flank|uc010luc.1_5'UTR	204	GBM-27-2527-TP	p.L277P	T	CGCTCCCAGCTCGAAAGCCAC	NM_005382	NP_005373	24772136	P07197	NFM_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	1	863	+	C	C		Prostate(55;0.157)	Missense_Mutation	277			Rod.|Coil 2A.			
NEFM	0	broad.mit.edu	GRCh37	8	24775127	24775127	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-2495-01	TCGA-32-2495-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221166.5:c.1759A>G	p.Lys587Glu	p.K587E	ENST00000221166		587	Aaa/Gaa	0			1			G	K/E	uc003xed.3	protein_coding	YES	CCDS6046.1			1759/2751									breast(1)	1	c.(1759-1761)AAA>GAA			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF19,hmmpanther:PTHR23239	neurofilament, medium polypeptide 150kDa isoform				ENSP00000221166		3-Mar									COSM3412934	3-Mar	.		ENST00000221166	Transcript				neurofilament	protein binding|structural constituent of cytoskeleton	ENSG00000104722	g.chr8:24775127A>G	7734			MODERATE		1.955	medium	getma.org/?cm=msa&ty=f&p=NFM_HUMAN&rb=412&re=611&var=K587E	NA	getma.org/?cm=var&var=hg19,8,24775127,A,G&fts=all	K587E	--	--	1																																		NEFM_uc011lac.1_Missense_Mutation_p.K587E|NEFM_uc010lue.2_Missense_Mutation_p.K211E	1	1		unknown(0)	p.K587E	NM_005382	NP_005373		tolerated(0.16)	1	NFM_HUMAN	NEFM	HGNC	P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)			3	1792	+		Prostate(55;0.157)	UPI000013C7A9	587			Tail.		SNV	NEFM,missense_variant,p.Lys587Glu,ENST00000221166,;NEFM,missense_variant,p.Lys587Glu,ENST00000437366,NM_005382.2;NEFM,missense_variant,p.Lys211Glu,ENST00000433454,NM_001105541.1;NEFM,missense_variant,p.Lys587Glu,ENST00000518131,;GS1-72M22.1,upstream_gene_variant,,ENST00000607058,;NEFM,intron_variant,,ENST00000521540,;NEFM,downstream_gene_variant,,ENST00000523467,;	uc003xed.3	c.1759A>G	2541/4020	4	4			c.1759A>G						8	SNP	c.(1759-1761)AAA>GAA	17	17			breast(1)	1	Broad	neurofilament, medium polypeptide 150kDa isoform			24775127		0.249	ENSG00000104722	10128	g.chr8:24775127A>G		neurofilament	protein binding|structural constituent of cytoskeleton							27.10156	KEEP	8	3	-1	4	7	8	3	-1	27.163866	4	7	0.571429	1	0	0	0	0	1	0	0	0	--	--		0	G			NEFM_uc011lac.1_Missense_Mutation_p.K587E|NEFM_uc010lue.2_Missense_Mutation_p.K211E	237	GBM-32-2495-TP	p.K587E	A	agaggaaaagaaagtggagga	NM_005382	NP_005373	24775127	P07197	NFM_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	3	1792	+	G	G		Prostate(55;0.157)	Missense_Mutation	587			Tail.			
NEGR1	0	broad.mit.edu	GRCh37	1	72400892	72400892	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-14-0813-01	TCGA-14-0813-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357731.5:c.279T>G	p.Ile93Met	p.I93M	ENST00000357731	NM_173808.2	93	atT/atG	0			1			C	I/M	uc001dfw.2	protein_coding	YES	CCDS661.1			279/1065									ovary(1)	1	c.(277-279)ATT>ATG			PROSITE_profiles:PS50835,hmmpanther:PTHR19831:SF11,hmmpanther:PTHR19831,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	neuronal growth regulator 1 precursor				ENSP00000350364		7-Feb									COSM2154709	7-Feb	.		ENST00000357731	Transcript			cell adhesion	anchored to membrane|plasma membrane		ENSG00000172260	g.chr1:72400892A>C	17302			MODERATE		2.065	medium	getma.org/?cm=msa&ty=f&p=NEGR1_HUMAN&rb=43&re=135&var=I93M	getma.org/pdb.php?prot=NEGR1_HUMAN&from=43&to=135&var=I93M	getma.org/?cm=var&var=hg19,1,72400892,A,C&fts=all	I93M	--	--	1																																		NEGR1_uc001dfv.2_Translation_Start_Site|NEGR1_uc010oqs.1_Missense_Mutation_p.I93M	1	1		probably_damaging(0.968)	p.I93M	NM_173808	NP_776169		deleterious(0.03)	1	NEGR1_HUMAN	NEGR1	HGNC	Q7Z3B1	NEGR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	Q8N440_HUMAN,Q68DZ8_HUMAN		2	379	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	UPI00000477EE	93			Ig-like C2-type 1.		SNV	NEGR1,missense_variant,p.Ile93Met,ENST00000357731,NM_173808.2;NEGR1,missense_variant,p.Ile91Met,ENST00000434200,;NEGR1,5_prime_UTR_variant,,ENST00000306821,;NEGR1,non_coding_transcript_exon_variant,,ENST00000467479,;	uc001dfw.2	c.279T>G	519/12811	3	3			c.279T>G						1	SNP	c.(277-279)ATT>ATG	15	15			ovary(1)	1	Broad	neuronal growth regulator 1 precursor			72400892		0.443	ENSG00000172260	10129	g.chr1:72400892A>C	cell adhesion	anchored to membrane|plasma membrane								129.432496	KEEP	26	21	-1	53	44	26	21	-1	133.102643	53	44	0.320312	1	0	0	0	0	1	0	0	0	--	--		0	C			NEGR1_uc001dfv.2_Translation_Start_Site|NEGR1_uc010oqs.1_Missense_Mutation_p.I93M	138	GBM-14-0813-TP	p.I93M	A	TCAATGTTGAAATTGAAACTC	NM_173808	NP_776169	72400892	Q7Z3B1	NEGR1_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	2	379	-	C	C		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	Missense_Mutation	93			Ig-like C2-type 1.			
NEGR1	257194		GRCh37	1	72058647	72058647	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000357731.5:c.793T>C	p.Phe265Leu	p.F265L	ENST00000357731	NM_173808.2	265	Ttc/Ctc	0																																																																																																																																																																																																																																												
NEIL2	252969	broad.mit.edu	GRCh37	8	11643604	11643604	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01	TCGA-06-0174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284503.6:c.821G>A	p.Gly274Asp	p.G274D	ENST00000284503	NM_145043.2	274	gGc/gAc	0			1			A	G/D	uc003wug.2	protein_coding	YES	CCDS5984.1			821/999										0	c.(820-822)GGC>GAC		BER_DNA_glycosylases	hmmpanther:PTHR22993,Gene3D:1.10.8.50	nei like 2 isoform a				ENSP00000284503		5-May									COSM3412701	5-May	.		ENST00000284503	Transcript			base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding	ENSG00000154328	g.chr8:11643604G>A	18956			MODERATE		0.255	neutral	getma.org/?cm=msa&ty=f&p=NEIL2_HUMAN&rb=193&re=278&var=G274D	NA	getma.org/?cm=var&var=hg19,8,11643604,G,A&fts=all	G274D	--	--	1																																		NEIL2_uc003wue.2_Missense_Mutation_p.G274D|NEIL2_uc003wuf.2_Missense_Mutation_p.G213D|NEIL2_uc011kxd.1_Missense_Mutation_p.G158D	1	1		benign(0.02)	p.G274D	NM_145043	NP_659480		tolerated(0.85)	1	NEIL2_HUMAN	NEIL2	HGNC	Q969S2	NEIL2_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)	Q3ZCR7_HUMAN		5	1496	+	all_epithelial(15;0.103)		UPI000006D86F	274					SNV	NEIL2,missense_variant,p.Gly274Asp,ENST00000284503,NM_145043.2;NEIL2,missense_variant,p.Gly274Asp,ENST00000455213,;NEIL2,missense_variant,p.Gly274Asp,ENST00000436750,NM_001135746.1;NEIL2,missense_variant,p.Gly213Asp,ENST00000403422,NM_001135747.1;NEIL2,missense_variant,p.Gly158Asp,ENST00000528323,NM_001135748.1;NEIL2,3_prime_UTR_variant,,ENST00000528113,;NEIL2,non_coding_transcript_exon_variant,,ENST00000524741,;SUB1P1,upstream_gene_variant,,ENST00000424509,;SUB1P1,upstream_gene_variant,,ENST00000524415,;	uc003wug.2	c.821G>A	1420/2671	2	2			c.821G>A						8	SNP	c.(820-822)GGC>GAC	45	45				0	Broad	nei like 2 isoform a	BER_DNA_glycosylases		11643604		0.607	ENSG00000154328	10131	g.chr8:11643604G>A	base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding							-39.871633	KEEP	3	1	-1	100	96	3	1	-1	6.860523	100	96	0.021858	1	0	0	0	0	1	0	0	0	--	--		0	A			NEIL2_uc003wue.2_Missense_Mutation_p.G274D|NEIL2_uc003wuf.2_Missense_Mutation_p.G213D|NEIL2_uc011kxd.1_Missense_Mutation_p.G158D	37	GBM-06-0174-TP	p.G274D	G	TGGCTGCAGGGCAAGTTCCAA	NM_145043	NP_659480	11643604	Q969S2	NEIL2_HUMAN	0	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)	5	1496	+	A	A	all_epithelial(15;0.103)		Missense_Mutation	274						
NEIL3	0	broad.mit.edu	GRCh37	4	178274739	178274739	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-76-6193-01	TCGA-76-6193-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264596.3:c.1317T>G	p.Asp439Glu	p.D439E	ENST00000264596	NM_018248.2	439	gaT/gaG	0			1			G	D/E	uc003iut.2	protein_coding	YES	CCDS3828.1			1317/1818									lung(2)|ovary(1)|central_nervous_system(1)	4	c.(1315-1317)GAT>GAG		BER_DNA_glycosylases	hmmpanther:PTHR22993,hmmpanther:PTHR22993:SF10	nei endonuclease VIII-like 3				ENSP00000264596		10-Aug									COSM3748261,COSM3748262	10-Aug	.		ENST00000264596	Transcript			base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	ENSG00000109674	g.chr4:178274739T>G	24573			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=NEIL3_HUMAN&rb=347&re=504&var=D439E	NA	getma.org/?cm=var&var=hg19,4,178274739,T,G&fts=all	D439E	--	--	1																																		NEIL3_uc010irs.2_3'UTR	1,1	1		benign(0.001)	p.D439E	NM_018248	NP_060718		tolerated(0.38)	1,1	NEIL3_HUMAN	NEIL3	HGNC	Q8TAT5	NEIL3_HUMAN		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)			8	1434	+		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)	UPI000013D53D	439					SNV	NEIL3,missense_variant,p.Asp439Glu,ENST00000264596,NM_018248.2;RP11-376O6.2,intron_variant,,ENST00000506895,;NEIL3,3_prime_UTR_variant,,ENST00000513321,;	uc003iut.2	c.1317T>G	1435/2408	3	3			c.1317T>G						4	SNP	c.(1315-1317)GAT>GAG	61	61			lung(2)|ovary(1)|central_nervous_system(1)	4	Broad	nei endonuclease VIII-like 3	BER_DNA_glycosylases		178274739		0.373	ENSG00000109674	10132	g.chr4:178274739T>G	base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding							-9.833134	KEEP	0	5	-1	50	43	0	5	-1	7.609071	50	43	0.049383	1	0	0	0	0	1	0	0	0	--	--		0	G			NEIL3_uc010irs.2_3'UTR	276	GBM-76-6193-TP	p.D439E	T	CAACAAACGATATAACTCAAC	NM_018248	NP_060718	178274739	Q8TAT5	NEIL3_HUMAN	0		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)	8	1434	+	G	G		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)	Missense_Mutation	439						
NEK1	4750	broad.mit.edu	GRCh37	4	170398275	170398275	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-06-5413-01	TCGA-06-5413-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000507142.1:c.2434del	p.Arg812AspfsTer10	p.R812Dfs*10	ENST00000507142	NM_001199397.1	812	Aga/ga	0			1			-	R/X	uc003isb.1	protein_coding		CCDS47162.1			2350/3777									lung(3)|ovary(2)|large_intestine(1)	6	c.(2350-2352)AGAfs			hmmpanther:PTHR24360,hmmpanther:PTHR24360:SF51	NIMA-related kinase 1				ENSP00000408020		24/34										24/34	.		ENST00000439128	Transcript	1		cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000137601	g.chr4:170398275delT	7744			HIGH								--	--	1																																		NEK1_uc003isc.1_Frame_Shift_Del_p.R740fs|NEK1_uc003isd.1_Frame_Shift_Del_p.R812fs|NEK1_uc003ise.1_Frame_Shift_Del_p.R768fs|NEK1_uc003isf.1_Frame_Shift_Del_p.R715fs					p.R784fs	NM_012224	NP_036356				NEK1_HUMAN	NEK1	HGNC	Q96PY6	NEK1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	Q5JXL9_HUMAN		24	2842	-		Prostate(90;0.00601)|Renal(120;0.0183)	UPI000012FF26	784					deletion	NEK1,frameshift_variant,p.Arg784AspfsTer10,ENST00000439128,NM_012224.2;NEK1,frameshift_variant,p.Arg812AspfsTer10,ENST00000507142,NM_001199397.1;NEK1,frameshift_variant,p.Arg768AspfsTer10,ENST00000511633,NM_001199398.1;NEK1,frameshift_variant,p.Arg740AspfsTer10,ENST00000510533,NM_001199400.1;NEK1,frameshift_variant,p.Arg715AspfsTer10,ENST00000512193,NM_001199399.1;	uc003isb.1	c.2350delA	2991/5653	5	5			c.2350delA						4	DEL	c.(2350-2352)AGAfs	3	3			lung(3)|ovary(2)|large_intestine(1)	6	Broad	NIMA-related kinase 1			170398275		0.343	ENSG00000137601	10133	g.chr4:170398275delT	cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			366			366														0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			NEK1_uc003isc.1_Frame_Shift_Del_p.R740fs|NEK1_uc003isd.1_Frame_Shift_Del_p.R812fs|NEK1_uc003ise.1_Frame_Shift_Del_p.R768fs|NEK1_uc003isf.1_Frame_Shift_Del_p.R715fs	96	GBM-06-5413-TP	p.R784fs	T	CTATACATACTTTCAGTTGTA	NM_012224	NP_036356	170398275	Q96PY6	NEK1_HUMAN	0		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	24	2842	-	-	-		Prostate(90;0.00601)|Renal(120;0.0183)	Frame_Shift_Del	784						
NEK10	0	broad.mit.edu	GRCh37	3	27233608	27233608	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-32-2495-01	TCGA-32-2495-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000429845.2:c.2417A>C	p.Glu806Ala	p.E806A	ENST00000429845		806	gAa/gCa	0			1			G	E/A	uc010hfk.2	protein_coding					2417/3519									ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13	c.(352-354)GAA>GCA			Gene3D:1.10.510.10,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR26266,hmmpanther:PTHR26266:SF77,Low_complexity_(Seg):seg,Superfamily_domains:SSF56112	RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;				ENSP00000395849		27/39									COSM3408566,COSM3408567,COSM3408565	27/39	.		ENST00000429845	Transcript					ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000163491	g.chr3:27233608T>G	18592			MODERATE								--	--	1																																		NEK10_uc003cds.1_Missense_Mutation_p.E203A|NEK10_uc010hfj.2_Missense_Mutation_p.E118A	1,1,1	1		benign(0.376)	p.E118A				deleterious(0.01)	1,1,1	NEK10_HUMAN	NEK10	HGNC	Q6ZWH5	NEK10_HUMAN			C9JJN0_HUMAN		5	582	-			UPI0000EE2A86	806					SNV	NEK10,missense_variant,p.Glu806Ala,ENST00000429845,;NEK10,missense_variant,p.Glu118Ala,ENST00000295720,;NEK10,missense_variant,p.Glu118Ala,ENST00000383771,;NEK10,missense_variant,p.Glu118Ala,ENST00000383770,;NEK10,missense_variant,p.Glu203Ala,ENST00000357467,;NEK10,non_coding_transcript_exon_variant,,ENST00000498182,;NEK10,non_coding_transcript_exon_variant,,ENST00000460447,;NEK10,non_coding_transcript_exon_variant,,ENST00000574215,;	uc010hfk.2	c.353A>C	2780/4250	4	4			c.353A>C						3	SNP	c.(352-354)GAA>GCA	32	32			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13	Broad	RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;			27233608		0.423	ENSG00000163491	10134	g.chr3:27233608T>G			ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			332			332	233.412823	KEEP	37	35	-1	54	82	37	35	-1	236.642246	54	82	0.358696	1	0	0	0	0	1	0	0	0	--	--		0	G			NEK10_uc003cds.1_Missense_Mutation_p.E203A|NEK10_uc010hfj.2_Missense_Mutation_p.E118A	237	GBM-32-2495-TP	p.E118A	T	TCGTTCCCGTTCTAGCTTCTT			27233608	Q6ZWH5	NEK10_HUMAN	0			5	582	-	G	G			Missense_Mutation	806						
NEK2	4751	broad.mit.edu	GRCh37	1	211836944	211836944	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6389-01	TCGA-06-6389-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366999.4:c.1162G>A	p.Gly388Arg	p.G388R	ENST00000366999	NM_002497.3	388	Ggg/Agg	0			1			T	G/R	uc001hir.1	protein_coding	YES	CCDS1500.1			1162/1338									breast(2)|stomach(1)	3	c.(1162-1164)GGG>AGG			hmmpanther:PTHR24362	NIMA-related kinase 2				ENSP00000355966		8-Aug										8-Aug	.		ENST00000366999	Transcript	1		cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity	ENSG00000117650	g.chr1:211836944C>T	7745			MODERATE		1.78	low	getma.org/?cm=msa&ty=f&p=NEK2_HUMAN&rb=272&re=445&var=G388R	NA	getma.org/?cm=var&var=hg19,1,211836944,C,T&fts=all	G388R	--	--	1																																		NEK2_uc001hiq.1_Missense_Mutation_p.G380R		1		benign(0.019)	p.G388R	NM_002497	NP_002488		tolerated_low_confidence(0.12)		NEK2_HUMAN	NEK2	HGNC	P51955	NEK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)	B4DZU0_HUMAN		8	1308	-			UPI000012FF27	388			Necessary for interaction with MAD1L1.|Interaction with PCNT.		SNV	NEK2,missense_variant,p.Gly388Arg,ENST00000366999,NM_002497.3;NEK2,missense_variant,p.Gly345Arg,ENST00000540251,;NEK2,downstream_gene_variant,,ENST00000366998,NM_001204183.1;NEK2,non_coding_transcript_exon_variant,,ENST00000462283,;NEK2,non_coding_transcript_exon_variant,,ENST00000489633,;FDPSP8,upstream_gene_variant,,ENST00000438304,;	uc001hir.1	c.1162G>A	1301/2131	2	2			c.1162G>A						1	SNP	c.(1162-1164)GGG>AGG	31	31			breast(2)|stomach(1)	3	Broad	NIMA-related kinase 2			211836944		0.403	ENSG00000117650	10136	g.chr1:211836944C>T	cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity							6.106786	KEEP	5	2	-1	30	28	5	2	-1	14.684287	30	28	0.107143	1	0	0	0	0	1	0	0	0	--	--		0	T			NEK2_uc001hiq.1_Missense_Mutation_p.G380R	105	GBM-06-6389-TP	p.G388R	C	TTACTTTCCCCACTGAAATGA	NM_002497	NP_002488	211836944	P51955	NEK2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)	8	1308	-	T	T			Missense_Mutation	388			Necessary for interaction with MAD1L1.|Interaction with PCNT.			
NEK3	4752	broad.mit.edu	GRCh37	13	52715184	52715184	+	intron_variant	Intron	SNP	A	A	G			TCGA-06-0686-01	TCGA-06-0686-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400357.2:c.876+2867T>C		p.*292*	ENST00000400357				0			1			G		uc001vgi.2	protein_coding	YES	CCDS53871.1			-/1470									ovary(1)|stomach(1)	2	c.(898-900)ATA>ACA				NIMA-related kinase 3 isoform a				ENSP00000383210											COSM3399417		.		ENST00000400357	Transcript			cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	ENSG00000136098	g.chr13:52715184A>G	7746			MODIFIER	13-Sep							--	--	1																																		NEK3_uc001vgg.2_Intron|NEK3_uc001vgh.2_Intron|NEK3_uc010tgx.1_RNA|NEK3_uc010tgy.1_Intron	1	1			p.I300T	NM_152720	NP_689933			1	NEK3_HUMAN	NEK3	HGNC	P51956	NEK3_HUMAN		GBM - Glioblastoma multiforme(99;2.81e-08)	F8VV00_HUMAN		13	1134	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)	UPI0000E59B02	300					SNV	NEK3,missense_variant,p.Ile300Thr,ENST00000339406,NM_001146099.1,NM_002498.2;NEK3,missense_variant,p.Ile300Thr,ENST00000378101,NM_152720.2;NEK3,intron_variant,,ENST00000452082,;NEK3,intron_variant,,ENST00000400357,;NEK3,stop_lost,p.Ter300GlnextTer30,ENST00000548127,;NEK3,stop_lost,p.Ter300GlnextTer30,ENST00000258597,;NEK3,stop_lost,p.Ter30GlnextTer30,ENST00000547820,;NEK3,downstream_gene_variant,,ENST00000551355,;	uc001vgi.2	c.899T>C	-/3255	4	4			c.899T>C						13	SNP	c.(898-900)ATA>ACA	29	29			ovary(1)|stomach(1)	2	Broad	NIMA-related kinase 3 isoform a			52715184		0.323	ENSG00000136098	10137	g.chr13:52715184A>G	cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			244			244	23.624448	KEEP	4	4	-1	6	3	4	4	-1	23.624448	6	3	0.5	1	0	0	0	0	1	0	0	0	--	--		0	G			NEK3_uc001vgg.2_Intron|NEK3_uc001vgh.2_Intron|NEK3_uc010tgx.1_RNA|NEK3_uc010tgy.1_Intron	64	GBM-06-0686-TP	p.I300T	A	TCCCAAAGCTATCCTGATTCT	NM_152720	NP_689933	52715184	P51956	NEK3_HUMAN	0		GBM - Glioblastoma multiforme(99;2.81e-08)	13	1134	-	G	G		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)	Missense_Mutation	300						
NEK3	0	broad.mit.edu	GRCh37	13	52728302	52728302	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-2509-01	TCGA-28-2509-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400357.2:c.124T>C	p.Ser42Pro	p.S42P	ENST00000400357		42	Tct/Cct	0			1			G	S/P	uc001vgi.2	protein_coding	YES	CCDS53871.1			124/1470									ovary(1)|stomach(1)	2	c.(124-126)TCT>CCT			PROSITE_profiles:PS50011,hmmpanther:PTHR24362:SF7,hmmpanther:PTHR24362,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	NIMA-related kinase 3 isoform a				ENSP00000383210		14-Feb									COSM3399419,COSM3399418	14-Feb	.		ENST00000400357	Transcript			cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	ENSG00000136098	g.chr13:52728302A>G	7746			MODERATE								--	--	1																																		NEK3_uc001vgg.2_Intron|NEK3_uc001vgh.2_Missense_Mutation_p.S63P|NEK3_uc010tgx.1_RNA|NEK3_uc010tgy.1_Missense_Mutation_p.S42P	1,1	1		benign(0.068)	p.S42P	NM_152720	NP_689933		deleterious(0.02)	1,1	NEK3_HUMAN	NEK3	HGNC	P51956	NEK3_HUMAN		GBM - Glioblastoma multiforme(99;2.81e-08)	F8VV00_HUMAN		3	359	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)	UPI0000E59B02	42			Interaction with VAV2.|Protein kinase.		SNV	NEK3,missense_variant,p.Ser63Pro,ENST00000452082,;NEK3,missense_variant,p.Ser42Pro,ENST00000400357,;NEK3,missense_variant,p.Ser42Pro,ENST00000339406,NM_001146099.1,NM_002498.2;NEK3,missense_variant,p.Ser42Pro,ENST00000378101,NM_152720.2;NEK3,missense_variant,p.Ser42Pro,ENST00000550841,;NEK3,missense_variant,p.Ser42Pro,ENST00000548127,;NEK3,missense_variant,p.Ser42Pro,ENST00000258597,;NEK3,non_coding_transcript_exon_variant,,ENST00000552973,;NEK3,intron_variant,,ENST00000551355,;	uc001vgi.2	c.124T>C	1418/3255	3	3			c.124T>C						13	SNP	c.(124-126)TCT>CCT	62	62			ovary(1)|stomach(1)	2	Broad	NIMA-related kinase 3 isoform a			52728302		0.284	ENSG00000136098	10137	g.chr13:52728302A>G	cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			244			244	97.044586	KEEP	8	20	-1	0	5	8	20	-1	100.417566	0	5	0.83871	1	0	0	0	0	1	0	0	0	--	--		0	G			NEK3_uc001vgg.2_Intron|NEK3_uc001vgh.2_Missense_Mutation_p.S63P|NEK3_uc010tgx.1_RNA|NEK3_uc010tgy.1_Missense_Mutation_p.S42P	211	GBM-28-2509-TP	p.S42P	A	TGTGTATTAGAGAAAGACTAG	NM_152720	NP_689933	52728302	P51956	NEK3_HUMAN	0		GBM - Glioblastoma multiforme(99;2.81e-08)	3	359	-	G	G		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)	Missense_Mutation	42			Interaction with VAV2.|Protein kinase.			
NEK4	6787		GRCh37	3	52780805	52780807	+	inframe_deletion	In_Frame_Del	DEL	CTC	CTC	-			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000233027.5:c.1620_1622del	p.Arg541del	p.R541del	ENST00000233027	NM_001193533.1	540	agGAGa/aga	0																																																																																																																																																																																																																																												
NEK7	0	broad.mit.edu	GRCh37	1	198262082	198262082	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-2521-01	TCGA-27-2521-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367385.4:c.597G>A	p.Thr199=	p.T199=	ENST00000367385	NM_133494.2	199	acG/acA	0		A:0	1	A:0		A	T	uc001gun.3	protein_coding	YES	CCDS1394.1			597/909						not_provided			stomach(2)|lung(1)|ovary(1)	4	c.(595-597)ACG>ACA			Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24362,hmmpanther:PTHR24362:SF228,SMART_domains:SM00220,Superfamily_domains:SSF56112	NIMA-related kinase 7		A:0.001		ENSP00000356355	A:0	10-Aug	0.000107		8.65E-05	0.00127		1.50E-05			rs201676070,COSM2125866	10-Aug	common_variant		ENST00000367385	Transcript		A:0.0002		cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	ENSG00000151414	g.chr1:198262082G>A	13386			LOW								--	--	1																																			1,1	1			p.T199T	NM_133494	NP_598001	A:0		0,1	NEK7_HUMAN	NEK7	HGNC	Q8TDX7	NEK7_HUMAN			F8WAG2_HUMAN,F5H3U7_HUMAN,C9J1H8_HUMAN		8	924	+			UPI0000073180	199			Protein kinase.		SNV	NEK7,synonymous_variant,p.=,ENST00000367385,NM_133494.2;NEK7,synonymous_variant,p.=,ENST00000538004,;NEK7,non_coding_transcript_exon_variant,,ENST00000493790,;	uc001gun.3	c.597G>A	939/4149	2	2			c.597G>A						1	SNP	c.(595-597)ACG>ACA	20	20			stomach(2)|lung(1)|ovary(1)	4	Broad	NIMA-related kinase 7			198262082		0.323	ENSG00000151414	10141	g.chr1:198262082G>A		cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity		p.T199T(SNU1079-Tumor)|p.T199T(EN-Tumor)|p.T199T(TE10-Tumor)	180		p.T199T(SNU1079-Tumor)|p.T199T(EN-Tumor)|p.T199T(TE10-Tumor)	180	317.73346	KEEP	51	63	-1	81	92	51	63	-1	319.465773	81	92	0.411765	1	0	0	0	0	0	0	1	0	--	--		0	A				200	GBM-27-2521-TP	p.T199T	G	CAGTTGGTACGCCTTATTACA	NM_133494	NP_598001	198262082	Q8TDX7	NEK7_HUMAN	0			8	924	+	A	A			Silent	199			Protein kinase.			
NELFA	0	broad.mit.edu	GRCh37	4	1986590	1986590	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000411638.2:c.981C>T	p.Ser327=	p.S327=	ENST00000411638	NM_005663.4	327	tcC/tcT	0			1			A	S	uc003gem.2	protein_coding					981/1587									skin(1)	1	c.(1012-1014)TCC>TCT			hmmpanther:PTHR13328,Low_complexity_(Seg):seg	Wolf-Hirschhorn syndrome candidate 2 protein				ENSP00000399165		11-Aug									COSM3409226,COSM3409225	11-Aug	.		ENST00000411638	Transcript	1		multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm		ENSG00000185049	g.chr4:1986590G>A	12768			LOW								--	--	1																																		WHSC2_uc003gek.2_Silent_p.S64S|WHSC2_uc003gel.2_Silent_p.S252S|WHSC2_uc003gen.2_Silent_p.S192S	1,1				p.S338S	NM_005663	NP_005654			1,1	NELFA_HUMAN	NELFA	HGNC	Q9H3P2	NELFA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0155)		C9JEM7_HUMAN,B3KSP0_HUMAN		8	1254	-			UPI0000038D6D	327					SNV	NELFA,synonymous_variant,p.=,ENST00000382882,;NELFA,synonymous_variant,p.=,ENST00000411638,NM_005663.4;NELFA,synonymous_variant,p.=,ENST00000416258,;NELFA,synonymous_variant,p.=,ENST00000542778,;NELFA,synonymous_variant,p.=,ENST00000453740,;WHSC1,downstream_gene_variant,,ENST00000382895,NM_133330.2;WHSC1,downstream_gene_variant,,ENST00000382892,NM_133331.2;WHSC1,downstream_gene_variant,,ENST00000382891,NM_133335.3;NELFA,downstream_gene_variant,,ENST00000455762,;NELFA,downstream_gene_variant,,ENST00000431323,;NELFA,downstream_gene_variant,,ENST00000411649,;MIR943,downstream_gene_variant,,ENST00000401286,;NELFA,3_prime_UTR_variant,,ENST00000333877,;NELFA,non_coding_transcript_exon_variant,,ENST00000463820,;NELFA,non_coding_transcript_exon_variant,,ENST00000467661,;WHSC1,downstream_gene_variant,,ENST00000312087,;WHSC1,downstream_gene_variant,,ENST00000353275,;NELFA,downstream_gene_variant,,ENST00000421397,;NELFA,downstream_gene_variant,,ENST00000488452,;NELFA,downstream_gene_variant,,ENST00000484545,;	uc003gem.2	c.1014C>T	997/2199	2	2			c.1014C>T						4	SNP	c.(1012-1014)TCC>TCT	17	17			skin(1)	1	Broad	Wolf-Hirschhorn syndrome candidate 2 protein			1986590		0.617	ENSG00000185049	17108	g.chr4:1986590G>A	multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm								3.83596	KEEP	0	3	-1	9	11	0	3	-1	6.527602	9	11	0.111111	1	0	0	0	0	0	0	1	0	--	--		0	A			WHSC2_uc003gek.2_Silent_p.S64S|WHSC2_uc003gel.2_Silent_p.S252S|WHSC2_uc003gen.2_Silent_p.S192S	160	GBM-19-1790-TP	p.S338S	G	CGCTGGGCGTGGAGGGAAGGT	NM_005663	NP_005654	1986590	Q9H3P2	NELFA_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(23;0.0155)		8	1254	-	A	A			Silent	327						
NELL1	4745	broad.mit.edu	GRCh37	11	20949959	20949959	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs150066751		TCGA-06-0152-01	TCGA-06-0152-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357134.5:c.931C>T	p.Pro311Ser	p.P311S	ENST00000357134	NM_201551.1	311	Cct/Tct	0	T:0.0009		1			T	P/S	uc001mqe.2	protein_coding	YES	CCDS7855.1			931/2433									ovary(2)|large_intestine(1)	3	c.(931-933)CCT>TCT			PROSITE_profiles:PS50184,hmmpanther:PTHR24042,hmmpanther:PTHR24042:SF2,PROSITE_patterns:PS01208,Pfam_domain:PF00093,SMART_domains:SM00214,SMART_domains:SM00215,Superfamily_domains:SSF57603	nel-like 1 isoform 1 precursor			T:0	ENSP00000349654		20-Sep	0.000107	0.00125							rs150066751,COSM2149869	20-Sep	common_variant		ENST00000357134	Transcript			cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	ENSG00000165973	g.chr11:20949959C>T	7750			MODERATE		1.29	low	getma.org/?cm=msa&ty=f&p=NELL1_HUMAN&rb=273&re=331&var=P311S	NA	getma.org/?cm=var&var=hg19,11,20949959,C,T&fts=all	P311S	--	--	1																																		NELL1_uc001mqf.2_Missense_Mutation_p.P311S|NELL1_uc009yid.2_Missense_Mutation_p.P339S|NELL1_uc010rdo.1_Missense_Mutation_p.P254S|NELL1_uc010rdp.1_Missense_Mutation_p.P71S	0,1	1		benign(0.309)	p.P311S	NM_006157	NP_006148		tolerated(0.17)	0,1	NELL1_HUMAN	NELL1	HGNC	Q92832	NELL1_HUMAN			K9UUD5_HUMAN		9	1084	+			UPI000013E53D	311			VWFC 1.		SNV	NELL1,missense_variant,p.Pro339Ser,ENST00000298925,NM_001288713.1;NELL1,missense_variant,p.Pro311Ser,ENST00000357134,NM_201551.1,NM_006157.3;NELL1,missense_variant,p.Pro254Ser,ENST00000325319,NM_001288714.1;NELL1,missense_variant,p.Pro311Ser,ENST00000532434,;NELL1,non_coding_transcript_exon_variant,,ENST00000528495,;	uc001mqe.2	c.931C>T	1083/3022	1	1			c.931C>T						11	SNP	c.(931-933)CCT>TCT	16	16			ovary(2)|large_intestine(1)	3	Broad	nel-like 1 isoform 1 precursor			20949959		0.537	ENSG00000165973	10145	g.chr11:20949959C>T	cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity							189.624897	KEEP	34	33	-1	49	55	34	33	-1	190.664554	49	55	0.408451	1	0	0	0	0	1	0	0	0	--	--		0	T			NELL1_uc001mqf.2_Missense_Mutation_p.P311S|NELL1_uc009yid.2_Missense_Mutation_p.P339S|NELL1_uc010rdo.1_Missense_Mutation_p.P254S|NELL1_uc010rdp.1_Missense_Mutation_p.P71S	25	GBM-06-0152-TP	p.P311S	C	GTCCTGTCCCCCTCTCAATTG	NM_006157	NP_006148	20949959	Q92832	NELL1_HUMAN	0			9	1084	+	T	T			Missense_Mutation	311			VWFC 1.			
NELL1	0	broad.mit.edu	GRCh37	11	21596532	21596532	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-26-5132-01	TCGA-26-5132-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357134.5:c.2397T>C	p.Cys799=	p.C799=	ENST00000357134	NM_201551.1	799	tgT/tgC	0			1			C	C	uc001mqe.2	protein_coding	YES	CCDS7855.1			2397/2433									ovary(2)|large_intestine(1)	3	c.(2395-2397)TGT>TGC			hmmpanther:PTHR24042,hmmpanther:PTHR24042:SF2	nel-like 1 isoform 1 precursor				ENSP00000349654		20/20									COSM2156908	20/20	.		ENST00000357134	Transcript			cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	ENSG00000165973	g.chr11:21596532T>C	7750			LOW								--	--	1																																		NELL1_uc001mqf.2_Silent_p.C752C|NELL1_uc009yid.2_Silent_p.C827C|NELL1_uc010rdo.1_Silent_p.C742C|NELL1_uc010rdp.1_Silent_p.C512C|NELL1_uc001mqh.2_Silent_p.C344C	1	1			p.C799C	NM_006157	NP_006148			1	NELL1_HUMAN	NELL1	HGNC	Q92832	NELL1_HUMAN			K9UUD5_HUMAN		20	2550	+			UPI000013E53D	799			VWFC 5.		SNV	NELL1,synonymous_variant,p.=,ENST00000298925,NM_001288713.1;NELL1,synonymous_variant,p.=,ENST00000357134,NM_201551.1,NM_006157.3;NELL1,synonymous_variant,p.=,ENST00000325319,NM_001288714.1;NELL1,synonymous_variant,p.=,ENST00000532434,;NELL1,non_coding_transcript_exon_variant,,ENST00000529218,;	uc001mqe.2	c.2397T>C	2549/3022	3	3			c.2397T>C						11	SNP	c.(2395-2397)TGT>TGC	64	64			ovary(2)|large_intestine(1)	3	Broad	nel-like 1 isoform 1 precursor			21596532		0.353	ENSG00000165973	10145	g.chr11:21596532T>C	cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity							186.220843	KEEP	38	26	-1	56	53	38	26	-1	188.193776	56	53	0.375	1	0	0	0	0	0	0	1	0	--	--		0	C			NELL1_uc001mqf.2_Silent_p.C752C|NELL1_uc009yid.2_Silent_p.C827C|NELL1_uc010rdo.1_Silent_p.C742C|NELL1_uc010rdp.1_Silent_p.C512C|NELL1_uc001mqh.2_Silent_p.C344C	181	GBM-26-5132-TP	p.C799C	T	GAAGAGTCTGTTGTTCTGTGG	NM_006157	NP_006148	21596532	Q92832	NELL1_HUMAN	0			20	2550	+	C	C			Silent	799			VWFC 5.			
NELL2	0	broad.mit.edu	GRCh37	12	45173691	45173691	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000429094.2:c.450G>A	p.Trp150Ter	p.W150*	ENST00000429094	NM_001145108.1	150	tgG/tgA	0			1			T	W/*	uc001rog.2	protein_coding		CCDS8746.1			450/2451									skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	c.(448-450)TGG>TGA			hmmpanther:PTHR24042,hmmpanther:PTHR24042:SF0,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00210,SMART_domains:SM00282,Superfamily_domains:SSF49899	NEL-like protein 2 isoform b precursor				ENSP00000390680		20-Apr									COSM3398726,COSM3398727,COSM3398725	20-Apr	.		ENST00000429094	Transcript			cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	ENSG00000184613	g.chr12:45173691C>T	7751			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,12,45173691,C,T&fts=all	W150*	--	--	1																																		NELL2_uc001rof.3_Nonsense_Mutation_p.W149*|NELL2_uc001roh.2_Nonsense_Mutation_p.W150*|NELL2_uc009zkd.2_Nonsense_Mutation_p.W149*|NELL2_uc010skz.1_Nonsense_Mutation_p.W200*|NELL2_uc010sla.1_Nonsense_Mutation_p.W173*|NELL2_uc001roi.1_Nonsense_Mutation_p.W150*|NELL2_uc010slb.1_Nonsense_Mutation_p.W149*|NELL2_uc001roj.2_Nonsense_Mutation_p.W150*	1,1,1				p.W150*	NM_001145108	NP_001138580			1,1,1	NELL2_HUMAN	NELL2	HGNC	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	F8W1I8_HUMAN,F8W1A2_HUMAN,F8VRQ0_HUMAN		4	1045	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	UPI0000001063	150			TSP N-terminal.		SNV	NELL2,stop_gained,p.Trp150Ter,ENST00000429094,NM_001145108.1;NELL2,stop_gained,p.Trp200Ter,ENST00000437801,NM_001145107.1;NELL2,stop_gained,p.Trp149Ter,ENST00000395487,NM_001145109.1;NELL2,stop_gained,p.Trp150Ter,ENST00000452445,NM_006159.2;NELL2,stop_gained,p.Trp149Ter,ENST00000551601,;NELL2,stop_gained,p.Trp149Ter,ENST00000549027,;NELL2,stop_gained,p.Trp173Ter,ENST00000333837,NM_001145110.1;NELL2,stop_gained,p.Trp150Ter,ENST00000552993,;NELL2,stop_gained,p.Trp147Ter,ENST00000553120,;NELL2,upstream_gene_variant,,ENST00000550313,;NELL2,upstream_gene_variant,,ENST00000550462,;NELL2,non_coding_transcript_exon_variant,,ENST00000547172,;NELL2,non_coding_transcript_exon_variant,,ENST00000547751,;	uc001rog.2	c.450G>A	955/3612	5	1			c.450G>A						12	SNP	c.(448-450)TGG>TGA	7	7			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Broad	NEL-like protein 2 isoform b precursor			45173691		0.438	ENSG00000184613	10146	g.chr12:45173691C>T	cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity							-53.537223	KEEP	1	7	-1	143	142	1	7	-1	10.972926	143	142	0.02682	1	0	0	0	0	0	1	0	0	--	--		0	T			NELL2_uc001rof.3_Nonsense_Mutation_p.W149*|NELL2_uc001roh.2_Nonsense_Mutation_p.W150*|NELL2_uc009zkd.2_Nonsense_Mutation_p.W149*|NELL2_uc010skz.1_Nonsense_Mutation_p.W200*|NELL2_uc010sla.1_Nonsense_Mutation_p.W173*|NELL2_uc001roi.1_Nonsense_Mutation_p.W150*|NELL2_uc010slb.1_Nonsense_Mutation_p.W149*|NELL2_uc001roj.2_Nonsense_Mutation_p.W150*	229	GBM-32-1977-TP	p.W150*	C	AGAGCTTGTGCCACTTGTCAT	NM_001145108	NP_001138580	45173691	Q99435	NELL2_HUMAN	0		GBM - Glioblastoma multiforme(48;0.092)	4	1045	-	T	T	Lung SC(27;0.192)	Lung NSC(34;0.144)	Nonsense_Mutation	150			TSP N-terminal.			
NES	10763	broad.mit.edu	GRCh37	1	156640774	156640774	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0195-01	TCGA-06-0195-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368223.3:c.3206A>T	p.Asp1069Val	p.D1069V	ENST00000368223	NM_006617.1	1069	gAt/gTt	0			1			A	D/V	uc001fpq.2	protein_coding	YES	CCDS1151.1			3206/4866									ovary(6)	6	c.(3205-3207)GAT>GTT			hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF131	nestin				ENSP00000357206		4-Apr									COSM3399815	4-Apr	.		ENST00000368223	Transcript			brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	ENSG00000132688	g.chr1:156640774T>A	7756			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=NEST_HUMAN&rb=871&re=1620&var=D1069V	NA	getma.org/?cm=var&var=hg19,1,156640774,T,A&fts=all	D1069V	--	--	1																																			1	1		possibly_damaging(0.556)	p.D1069V	NM_006617	NP_006608		deleterious(0.01)	1	NEST_HUMAN	NES	HGNC	P48681	NEST_HUMAN			Q2YDX4_HUMAN		4	3339	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		UPI0000213DC0	1069			Tail.		SNV	NES,missense_variant,p.Asp1069Val,ENST00000368223,NM_006617.1;	uc001fpq.2	c.3206A>T	3339/5558	2	2			c.3206A>T						1	SNP	c.(3205-3207)GAT>GTT	30	30			ovary(6)	6	Broad	nestin			156640774		0.682	ENSG00000132688	10149	g.chr1:156640774T>A	brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity							22.123794	KEEP	9	11	-1	69	59	9	11	-1	40.190806	69	59	0.123077	1	0	0	0	0	1	0	0	0	--	--		0	A				45	GBM-06-0195-TP	p.D1069V	T	GGCCACATCATCTTCCACCAG	NM_006617	NP_006608	156640774	P48681	NEST_HUMAN	0			4	3339	-	A	A	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		Missense_Mutation	1069			Tail.			
NETO1	81832	broad.mit.edu	GRCh37	18	70417298	70417298	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01	TCGA-06-0173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327305.6:c.1540C>T	p.Arg514Trp	p.R514W	ENST00000327305	NM_138966.3	514	Cgg/Tgg	0			1			A	R/W	uc002lkw.2	protein_coding	YES	CCDS12000.1			1540/1602									ovary(2)|skin(2)	4	c.(1540-1542)CGG>TGG				neuropilin- and tolloid-like protein 1 isoform 3				ENSP00000313088		11-Sep									COSM2150412	11-Sep	.		ENST00000327305	Transcript			memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	ENSG00000166342	g.chr18:70417298G>A	13823			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=NETO1_HUMAN&rb=327&re=526&var=R514W	NA	getma.org/?cm=var&var=hg19,18,70417298,G,A&fts=all	R514W	--	--	1																																		NETO1_uc002lkx.1_Missense_Mutation_p.R513W|NETO1_uc002lky.1_Missense_Mutation_p.R514W	1	1		probably_damaging(0.993)	p.R514W	NM_138966	NP_620416		deleterious_low_confidence(0)	1	NETO1_HUMAN	NETO1	HGNC	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)			9	1824	-		Esophageal squamous(42;0.129)	UPI000013E59E	514			Cytoplasmic (Potential).		SNV	NETO1,missense_variant,p.Arg514Trp,ENST00000327305,NM_138966.3;NETO1,missense_variant,p.Arg514Trp,ENST00000583169,NM_001201465.1;NETO1,missense_variant,p.Arg513Trp,ENST00000299430,;NETO1,upstream_gene_variant,,ENST00000582281,;RNA5SP460,upstream_gene_variant,,ENST00000516789,;RP11-713C5.1,upstream_gene_variant,,ENST00000584727,;	uc002lkw.2	c.1540C>T	2198/3058	1	1			c.1540C>T						18	SNP	c.(1540-1542)CGG>TGG	49	49			ovary(2)|skin(2)	4	Broad	neuropilin- and tolloid-like protein 1 isoform 3			70417298		0.433	ENSG00000166342	10151	g.chr18:70417298G>A	memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity							109.218019	KEEP	26	18	-1	27	22	26	18	-1	109.356236	27	22	0.454545	1	0	0	0	0	1	0	0	0	--	--		0	A			NETO1_uc002lkx.1_Missense_Mutation_p.R513W|NETO1_uc002lky.1_Missense_Mutation_p.R514W	36	GBM-06-0173-TP	p.R514W	G	GATACTGACCGCTGGACGGCT	NM_138966	NP_620416	70417298	Q8TDF5	NETO1_HUMAN	0		READ - Rectum adenocarcinoma(1;0.0487)	9	1824	-	A	A		Esophageal squamous(42;0.129)	Missense_Mutation	514			Cytoplasmic (Potential).			
NEU2	0	broad.mit.edu	GRCh37	2	233899564	233899564	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-12-0618-01	TCGA-12-0618-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000233840.3:c.940C>T	p.Arg314Ter	p.R314*	ENST00000233840	NM_005383.2	314	Cga/Tga	0	T:0.0002		1			T	R/*	uc010zmn.1	protein_coding	YES	CCDS2501.1			940/1143										0	c.(940-942)CGA>TGA			hmmpanther:PTHR10628:SF6,hmmpanther:PTHR10628,Gene3D:2.120.10.10,Pfam_domain:PF13088,Superfamily_domains:SSF50939	neuraminidase 2			T:0	ENSP00000233840		2-Feb	1.65E-05	9.93E-05		0.000117					rs370611873,COSM2153607	2-Feb	.		ENST00000233840	Transcript					exo-alpha-sialidase activity	ENSG00000115488	g.chr2:233899564C>T	7759			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,233899564,C,T&fts=all	R314*	--	--	1																																			0,1	1			p.R314*	NM_005383	NP_005374			0,1	NEUR2_HUMAN	NEU2	HGNC	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)			2	940	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	UPI000013C98F	314					SNV	NEU2,stop_gained,p.Arg314Ter,ENST00000233840,NM_005383.2;	uc010zmn.1	c.940C>T	940/1143	5	2			c.940C>T						2	SNP	c.(940-942)CGA>TGA	43	43				0	Broad	neuraminidase 2			233899564		0.692	ENSG00000115488	10154	g.chr2:233899564C>T			exo-alpha-sialidase activity							274.002926	KEEP	43	62	-1	62	62	43	62	-1	274.157832	62	62	0.470297	1	0	0	0	0	0	1	0	0	--	--		0	T				119	GBM-12-0618-TP	p.R314*	C	CCTCAACCCGCGACCTCCAGC	NM_005383	NP_005374	233899564	Q9Y3R4	NEUR2_HUMAN	0		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	2	940	+	T	T		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	Nonsense_Mutation	314						
NEU2	0	broad.mit.edu	GRCh37	2	233899574	233899574	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1823-01	TCGA-14-1823-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000233840.3:c.950C>T	p.Ala317Val	p.A317V	ENST00000233840	NM_005383.2	317	gCc/gTc	0			1			T	A/V	uc010zmn.1	protein_coding	YES	CCDS2501.1			950/1143										0	c.(949-951)GCC>GTC			hmmpanther:PTHR10628:SF6,hmmpanther:PTHR10628,Gene3D:2.120.10.10,Pfam_domain:PF13088,Superfamily_domains:SSF50939	neuraminidase 2				ENSP00000233840		2-Feb									COSM1406336	2-Feb	.		ENST00000233840	Transcript					exo-alpha-sialidase activity	ENSG00000115488	g.chr2:233899574C>T	7759			MODERATE		0.755	neutral	getma.org/?cm=msa&ty=f&p=NEUR2_HUMAN&rb=32&re=345&var=A317V	getma.org/pdb.php?prot=NEUR2_HUMAN&from=32&to=345&var=A317V	getma.org/?cm=var&var=hg19,2,233899574,C,T&fts=all	A317V	--	--	1																																			1	1		benign(0.006)	p.A317V	NM_005383	NP_005374		deleterious(0.02)	1	NEUR2_HUMAN	NEU2	HGNC	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)			2	950	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	UPI000013C98F	317					SNV	NEU2,missense_variant,p.Ala317Val,ENST00000233840,NM_005383.2;	uc010zmn.1	c.950C>T	950/1143	1	1			c.950C>T						2	SNP	c.(949-951)GCC>GTC	6	6				0	Broad	neuraminidase 2			233899574		0.672	ENSG00000115488	10154	g.chr2:233899574C>T			exo-alpha-sialidase activity							126.807077	KEEP	32	31	-1	118	116	32	31	-1	146.222598	118	116	0.21673	1	0	0	0	0	1	0	0	0	--	--		0	T				147	GBM-14-1823-TP	p.A317V	C	CGACCTCCAGCCCCTGAGGCC	NM_005383	NP_005374	233899574	Q9Y3R4	NEUR2_HUMAN	0		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	2	950	+	T	T		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	Missense_Mutation	317						
NEURL4	0	broad.mit.edu	GRCh37	17	7220634	7220634	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1970-01	TCGA-32-1970-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399464.2:c.4374C>T	p.Phe1458=	p.F1458=	ENST00000399464	NM_032442.2	1458	ttC/ttT	0			1			A	F	uc002gga.1	protein_coding	YES	CCDS42251.1			4374/4689									upper_aerodigestive_tract(1)|ovary(1)	2	c.(4372-4374)TTC>TTT			hmmpanther:PTHR12429,hmmpanther:PTHR12429:SF2,Low_complexity_(Seg):seg	neuralized homolog 4 isoform 1				ENSP00000382390		28/29	1.66E-05					3.13E-05			rs752327546,COSM3403185,COSM3403186	28/29	.		ENST00000399464	Transcript					protein binding	ENSG00000215041	g.chr17:7220634G>A	34410			LOW								--	--	1																																		GPS2_uc002gfv.1_5'Flank|GPS2_uc002gfw.1_5'Flank|GPS2_uc002gfx.1_5'Flank|NEURL4_uc002gfy.1_RNA|GPS2_uc002gfz.1_5'UTR|NEURL4_uc002ggb.1_Silent_p.F1456F	0,1,1	1			p.F1458F	NM_032442	NP_115818			0,1,1	NEUL4_HUMAN	NEURL4	HGNC	Q96JN8	NEUL4_HUMAN					28	4381	-			UPI000020081C	1458					SNV	NEURL4,synonymous_variant,p.=,ENST00000399464,NM_032442.2;NEURL4,synonymous_variant,p.=,ENST00000315614,NM_001005408.1;NEURL4,synonymous_variant,p.=,ENST00000570460,;NEURL4,synonymous_variant,p.=,ENST00000571887,;EIF5A,downstream_gene_variant,,ENST00000336458,NM_001970.4;EIF5A,downstream_gene_variant,,ENST00000576930,;GPS2,upstream_gene_variant,,ENST00000380728,;GPS2,upstream_gene_variant,,ENST00000389167,NM_004489.4;EIF5A,downstream_gene_variant,,ENST00000571955,;EIF5A,downstream_gene_variant,,ENST00000416016,NM_001143762.1;EIF5A,downstream_gene_variant,,ENST00000419711,NM_001143761.1;GPS2,upstream_gene_variant,,ENST00000391950,;EIF5A,downstream_gene_variant,,ENST00000336452,NM_001143760.1;GPS2,upstream_gene_variant,,ENST00000570780,;GPS2,upstream_gene_variant,,ENST00000577040,;GPS2,upstream_gene_variant,,ENST00000573684,;GPS2,upstream_gene_variant,,ENST00000574458,;NEURL4,non_coding_transcript_exon_variant,,ENST00000574120,;RP11-542C16.2,synonymous_variant,p.=,ENST00000575474,;RP11-542C16.2,synonymous_variant,p.=,ENST00000315601,;NEURL4,3_prime_UTR_variant,,ENST00000573186,;NEURL4,non_coding_transcript_exon_variant,,ENST00000576794,;NEURL4,non_coding_transcript_exon_variant,,ENST00000572680,;GPS2,upstream_gene_variant,,ENST00000571697,;NEURL4,downstream_gene_variant,,ENST00000573651,;GPS2,upstream_gene_variant,,ENST00000571569,;GPS2,upstream_gene_variant,,ENST00000572172,;GPS2,upstream_gene_variant,,ENST00000572363,;GPS2,upstream_gene_variant,,ENST00000571098,;GPS2,upstream_gene_variant,,ENST00000572707,;GPS2,upstream_gene_variant,,ENST00000573059,;GPS2,upstream_gene_variant,,ENST00000573807,;NEURL4,downstream_gene_variant,,ENST00000571508,;NEURL4,downstream_gene_variant,,ENST00000572029,;GPS2,upstream_gene_variant,,ENST00000571695,;GPS2,upstream_gene_variant,,ENST00000574201,;	uc002gga.1	c.4374C>T	4390/5200	2	2			c.4374C>T						17	SNP	c.(4372-4374)TTC>TTT	42	42			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	neuralized homolog 4 isoform 1			7220634		0.607	ENSG00000215041	10159	g.chr17:7220634G>A			protein binding							266.51436	KEEP	48	46	-1	6	6	48	46	-1	278.871914	6	6	0.876404	1	0	0	0	0	0	0	1	0	--	--		0	A			GPS2_uc002gfv.1_5'Flank|GPS2_uc002gfw.1_5'Flank|GPS2_uc002gfx.1_5'Flank|NEURL4_uc002gfy.1_RNA|GPS2_uc002gfz.1_5'UTR|NEURL4_uc002ggb.1_Silent_p.F1456F	228	GBM-32-1970-TP	p.F1458F	G	CAGGCTCCTCGAACCCTACCC	NM_032442	NP_115818	7220634	Q96JN8	NEUL4_HUMAN	0			28	4381	-	A	A			Silent	1458						
NEUROD2	0	broad.mit.edu	GRCh37	17	37762281	37762281	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1991-01	TCGA-32-1991-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302584.4:c.572C>T	p.Thr191Ile	p.T191I	ENST00000302584	NM_006160.3	191	aCt/aTt	0			1			A	T/I	uc002hry.2	protein_coding	YES	CCDS11338.1			572/1149										0	c.(571-573)ACT>ATT			hmmpanther:PTHR19290:SF83,hmmpanther:PTHR19290,Pfam_domain:PF12533,PIRSF_domain:PIRSF015618	neurogenic differentiation 2				ENSP00000306754		2-Feb									COSM3402823	2-Feb	.		ENST00000302584	Transcript			cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	ENSG00000171532	g.chr17:37762281G>A	7763			MODERATE		2.31	medium	getma.org/?cm=msa&ty=f&p=NDF2_HUMAN&rb=180&re=310&var=T191I	NA	getma.org/?cm=var&var=hg19,17,37762281,G,A&fts=all	T191I	--	--	1																																			1	1		possibly_damaging(0.643)	p.T191I	NM_006160	NP_006151		deleterious(0)	1	NDF2_HUMAN	NEUROD2	HGNC	Q15784	NDF2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)				2	772	-	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UPI000012FE76	191					SNV	NEUROD2,missense_variant,p.Thr191Ile,ENST00000302584,NM_006160.3;NEUROD2,non_coding_transcript_exon_variant,,ENST00000580874,;	uc002hry.2	c.572C>T	793/2041	2	2			c.572C>T						17	SNP	c.(571-573)ACT>ATT	43	43				0	Broad	neurogenic differentiation 2			37762281		0.622	ENSG00000171532	10161	g.chr17:37762281G>A	cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity							114.454024	KEEP	17	22	-1	14	27	17	22	-1	114.454024	14	27	0.5	1	0	0	0	0	1	0	0	0	--	--		0	A				234	GBM-32-1991-TP	p.T191I	G	CTTGCACAGAGTCTGCACGTA	NM_006160	NP_006151	37762281	Q15784	NDF2_HUMAN	0	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)		2	772	-	A	A	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		Missense_Mutation	191						
NEUROD6	63974		GRCh37	7	31378634	31378635	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000297142.3:c.248dup	p.Thr84AspfsTer43	p.T84Dfs*43	ENST00000297142	NM_022728.3	83	aag/aaAg	0																																																																																																																																																																																																																																												
NEUROG2	63973	broad.mit.edu	GRCh37	4	113436257	113436257	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01	TCGA-06-2559-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313341.3:c.375G>A	p.Met125Ile	p.M125I	ENST00000313341	NM_024019.3	125	atG/atA	0			1			T	M/I	uc003ias.2	protein_coding	YES	CCDS3698.1			375/819									skin(2)|central_nervous_system(1)	3	c.(373-375)ATG>ATA			Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50888,hmmpanther:PTHR19290:SF87,hmmpanther:PTHR19290,Gene3D:4.10.280.10,Pfam_domain:PF00010,SMART_domains:SM00353,Superfamily_domains:SSF47459	neurogenin 2				ENSP00000317333		2-Feb									COSM2152676	2-Feb	.		ENST00000313341	Transcript			positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding	ENSG00000178403	g.chr4:113436257C>T	13805			MODERATE		2.7	medium	getma.org/?cm=msa&ty=f&p=NGN2_HUMAN&rb=113&re=165&var=M125I	getma.org/pdb.php?prot=NGN2_HUMAN&from=113&to=165&var=M125I	getma.org/?cm=var&var=hg19,4,113436257,C,T&fts=all	M125I	--	--	1																																			1	1		probably_damaging(0.932)	p.M125I	NM_024019	NP_076924		deleterious(0)	1	NGN2_HUMAN	NEUROG2	HGNC	Q9H2A3	NGN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00168)			2	702	-		Ovarian(17;0.156)	UPI000006ED59	125			Helix-loop-helix motif.|Basic motif.		SNV	NEUROG2,missense_variant,p.Met125Ile,ENST00000313341,NM_024019.3;RP11-402J6.1,upstream_gene_variant,,ENST00000506057,;RP11-402J6.1,upstream_gene_variant,,ENST00000504009,;	uc003ias.2	c.375G>A	702/2287	1	1			c.375G>A						4	SNP	c.(373-375)ATG>ATA	1	1			skin(2)|central_nervous_system(1)	3	Broad	neurogenin 2			113436257		0.672	ENSG00000178403	10165	g.chr4:113436257C>T	positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding							86.544654	KEEP	23	17	-1	41	32	23	17	-1	88.273078	41	32	0.354839	1	0	0	0	0	1	0	0	0	--	--		0	T				83	GBM-06-2559-TP	p.M125I	C	TGAGGTTGTGCATGCGGTTTC	NM_024019	NP_076924	113436257	Q9H2A3	NGN2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;0.00168)	2	702	-	T	T		Ovarian(17;0.156)	Missense_Mutation	125			Helix-loop-helix motif.|Basic motif.			
NEXN	91624	broad.mit.edu	GRCh37	1	78392171	78392171	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-2559-01	TCGA-06-2559-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334785.7:c.562A>T	p.Asn188Tyr	p.N188Y	ENST00000334785	NM_144573.3	188	Aat/Tat	0			1			T	N/Y	uc001dic.3	protein_coding	YES	CCDS41351.1			562/2028									ovary(2)	2	c.(562-564)AAT>TAT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22964	nexilin (F actin binding protein)				ENSP00000333938		13-Jul									COSM3401016,COSM3401017	13-Jul	.		ENST00000334785	Transcript	1		regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	ENSG00000162614	g.chr1:78392171A>T	29557			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=NEXN_HUMAN&rb=1&re=566&var=N188Y	NA	getma.org/?cm=var&var=hg19,1,78392171,A,T&fts=all	N188Y	--	--	1																																		NEXN_uc001dia.3_Missense_Mutation_p.N174Y|NEXN_uc009wcb.1_Missense_Mutation_p.N110Y|NEXN_uc001dib.3_Missense_Mutation_p.N124Y|NEXN_uc001did.1_Missense_Mutation_p.N98Y|NEXN_uc001dif.1_Missense_Mutation_p.N80Y	1,1	1		benign(0.372)	p.N188Y	NM_144573	NP_653174		deleterious(0.04)	1,1	NEXN_HUMAN	NEXN	HGNC	Q0ZGT2	NEXN_HUMAN		Colorectal(170;0.114)	B4DDI0_HUMAN		7	859	+			UPI000022ABDC	188			Glu-rich.		SNV	NEXN,missense_variant,p.Asn124Tyr,ENST00000330010,NM_001172309.1;NEXN,missense_variant,p.Asn88Tyr,ENST00000342754,;NEXN,missense_variant,p.Asn188Tyr,ENST00000334785,NM_144573.3;NEXN,missense_variant,p.Asn174Tyr,ENST00000457030,;NEXN,missense_variant,p.Asn174Tyr,ENST00000440324,;NEXN,missense_variant,p.Asn124Tyr,ENST00000401035,;NEXN,downstream_gene_variant,,ENST00000294624,;NEXN,upstream_gene_variant,,ENST00000464998,;	uc001dic.3	c.562A>T	746/2607	2	2			c.562A>T						1	SNP	c.(562-564)AAT>TAT	48	48			ovary(2)	2	Broad	nexilin (F actin binding protein)			78392171		0.313	ENSG00000162614	10167	g.chr1:78392171A>T	regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle							22.433399	KEEP	4	12	-1	63	37	4	12	-1	35.962795	63	37	0.144144	1	0	0	0	0	1	0	0	0	--	--		0	T			NEXN_uc001dia.3_Missense_Mutation_p.N174Y|NEXN_uc009wcb.1_Missense_Mutation_p.N110Y|NEXN_uc001dib.3_Missense_Mutation_p.N124Y|NEXN_uc001did.1_Missense_Mutation_p.N98Y|NEXN_uc001dif.1_Missense_Mutation_p.N80Y	83	GBM-06-2559-TP	p.N188Y	A	AATGAAAAAGAATTTTGAGGA	NM_144573	NP_653174	78392171	Q0ZGT2	NEXN_HUMAN	0		Colorectal(170;0.114)	7	859	+	T	T			Missense_Mutation	188			Glu-rich.			
NEXN	0	broad.mit.edu	GRCh37	1	78401572	78401572	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-4934-01	TCGA-76-4934-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334785.7:c.1316G>T	p.Arg439Met	p.R439M	ENST00000334785	NM_144573.3	439	aGg/aTg	0			1			T	R/M	uc001dic.3	protein_coding	YES	CCDS41351.1			1316/2028									ovary(2)	2	c.(1315-1317)AGG>ATG			hmmpanther:PTHR22964	nexilin (F actin binding protein)				ENSP00000333938		13-Nov									COSM3401018,COSM3401019	13-Nov	.		ENST00000334785	Transcript	1		regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	ENSG00000162614	g.chr1:78401572G>T	29557			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=NEXN_HUMAN&rb=1&re=566&var=R439M	NA	getma.org/?cm=var&var=hg19,1,78401572,G,T&fts=all	R439M	--	--	1																																		NEXN_uc001dia.3_Missense_Mutation_p.R425M|NEXN_uc009wcb.1_Missense_Mutation_p.R361M|NEXN_uc001dib.3_Missense_Mutation_p.R375M|NEXN_uc001did.1_Missense_Mutation_p.R349M|NEXN_uc001dif.1_Missense_Mutation_p.R331M|NEXN_uc001dig.3_Missense_Mutation_p.R80M	1,1	1		probably_damaging(0.993)	p.R439M	NM_144573	NP_653174		deleterious(0)	1,1	NEXN_HUMAN	NEXN	HGNC	Q0ZGT2	NEXN_HUMAN		Colorectal(170;0.114)	B4DDI0_HUMAN		11	1613	+			UPI000022ABDC	439			Glu-rich.		SNV	NEXN,missense_variant,p.Arg375Met,ENST00000330010,NM_001172309.1;NEXN,missense_variant,p.Arg339Met,ENST00000342754,;NEXN,missense_variant,p.Arg439Met,ENST00000334785,NM_144573.3;NEXN,missense_variant,p.Arg425Met,ENST00000457030,;NEXN,missense_variant,p.Arg425Met,ENST00000440324,;NEXN,downstream_gene_variant,,ENST00000401035,;NEXN,non_coding_transcript_exon_variant,,ENST00000480732,;NEXN,non_coding_transcript_exon_variant,,ENST00000464998,;	uc001dic.3	c.1316G>T	1500/2607	1	1			c.1316G>T						1	SNP	c.(1315-1317)AGG>ATG	3	3			ovary(2)	2	Broad	nexilin (F actin binding protein)			78401572		0.313	ENSG00000162614	10167	g.chr1:78401572G>T	regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle							32.067874	KEEP	6	12	0.333333333	48	63	6	12	0.333333333	45.250583	48	63	0.155172	1	0	0	0	0	1	0	0	0	--	--		0	T			NEXN_uc001dia.3_Missense_Mutation_p.R425M|NEXN_uc009wcb.1_Missense_Mutation_p.R361M|NEXN_uc001dib.3_Missense_Mutation_p.R375M|NEXN_uc001did.1_Missense_Mutation_p.R349M|NEXN_uc001dif.1_Missense_Mutation_p.R331M|NEXN_uc001dig.3_Missense_Mutation_p.R80M	272	GBM-76-4934-TP	p.R439M	G	AAATTAAAAAGGAGTGGCTCT	NM_144573	NP_653174	78401572	Q0ZGT2	NEXN_HUMAN	0		Colorectal(170;0.114)	11	1613	+	T	T			Missense_Mutation	439			Glu-rich.			
NF1	4763	broad.mit.edu	GRCh37	17	29586049	29586049	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	rs149784315	by1000genomes	TCGA-02-0033-01	TCGA-02-0033-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358273.4:c.4333-1G>A		p.X1445_splice	ENST00000358273	NM_001042492.2	1445		0			1			A		uc002hgg.2	protein_coding	YES	CCDS42292.1			4333/8520	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma			p.?(4)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	c.e33-1				neurofibromin isoform 1				ENSP00000351015											COSM35398,COSM3402738		.	Neurofibromatosis_type_1	ENST00000358273	Transcript	1		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	ENSG00000196712	g.chr17:29586049G>A	7765			HIGH	32/57							--	--	1				TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																														NF1_uc002hgh.2_Splice_Site_p.I1424_splice|NF1_uc002hgi.1_Splice_Site_p.I457_splice	1,1	1			p.I1445_splice	NM_001042492	NP_001035957			1,1	NF1_HUMAN	NF1	HGNC	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN		33	4666	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	UPI000012FFAE						SNV	NF1,splice_acceptor_variant,,ENST00000358273,NM_001042492.2;NF1,splice_acceptor_variant,,ENST00000356175,NM_000267.3;NF1,splice_acceptor_variant,,ENST00000456735,;NF1,splice_acceptor_variant,,ENST00000579081,;NF1,splice_acceptor_variant,,ENST00000493220,;NF1,splice_acceptor_variant,,ENST00000466819,;NF1,splice_acceptor_variant,,ENST00000479614,;NF1,downstream_gene_variant,,ENST00000495910,;	uc002hgg.2	c.4333_splice	-/12425	5	2			c.4333_splice	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma	17	SNP	c.e33-1	36	36		p.?(4)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	Broad	neurofibromin isoform 1			29586049	Neurofibromatosis_type_1	0.303	ENSG00000196712	10168	g.chr17:29586049G>A	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity		(SNU81-Tumor)	847		(SNU81-Tumor)	847	36.281888	KEEP	5	8	-1	18	15	5	8	-1	38.012812	18	15	0.285714	1	0	0	0	0	0	0	0	1	--	--	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	0	A			NF1_uc002hgh.2_Splice_Site_p.I1424_splice|NF1_uc002hgi.1_Splice_Site_p.I457_splice	2	GBM-02-0033-TP	p.I1445_splice	G	TTATTGTGTAGATACTTCAGA	NM_001042492	NP_001035957	29586049	P21359	NF1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	33	4666	+	A	A		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	Splice_Site							
NF1	4763	broad.mit.edu	GRCh37	17	29665808	29665808	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0184-01	TCGA-06-0184-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358273.4:c.6906del	p.Gln2302HisfsTer17	p.Q2302Hfs*17	ENST00000358273	NM_001042492.2	2302	caG/ca	0			1			-	Q/X	uc002hgg.2	protein_coding	YES	CCDS42292.1			6906/8520	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma			p.Q2302fs*17(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	c.(6904-6906)CAGfs			Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194	neurofibromin isoform 1				ENSP00000351015		46/58									COSM35348,COSM2150452	46/58	.	Neurofibromatosis_type_1	ENST00000358273	Transcript	1		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	ENSG00000196712	g.chr17:29665808delG	7765			HIGH								--	--	1				TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																														NF1_uc002hgh.2_Frame_Shift_Del_p.Q2281fs|NF1_uc010cso.2_Frame_Shift_Del_p.Q490fs|NF1_uc010wbt.1_Intron|NF1_uc010wbu.1_RNA	1,1	1			p.Q2302fs	NM_001042492	NP_001035957			1,1	NF1_HUMAN	NF1	HGNC	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN		46	7239	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	UPI000012FFAE	2302					deletion	NF1,frameshift_variant,p.Gln2302HisfsTer17,ENST00000358273,NM_001042492.2;NF1,frameshift_variant,p.Gln2281HisfsTer17,ENST00000356175,NM_000267.3;NF1,frameshift_variant,p.Gln1947HisfsTer17,ENST00000456735,;NF1,frameshift_variant,p.Gln95HisfsTer17,ENST00000444181,;NF1,intron_variant,,ENST00000417592,;NF1,downstream_gene_variant,,ENST00000581113,;NF1,frameshift_variant,p.Gln97HisfsTer17,ENST00000471572,;NF1,3_prime_UTR_variant,,ENST00000579081,;NF1,non_coding_transcript_exon_variant,,ENST00000584328,;NF1,intron_variant,,ENST00000581790,;NF1,downstream_gene_variant,,ENST00000479536,;NF1,upstream_gene_variant,,ENST00000582892,;	uc002hgg.2	c.6906delG	7289/12425	5	5			c.6906delG	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma	17	DEL	c.(6904-6906)CAGfs	63	63		p.Q2302fs*17(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	Broad	neurofibromin isoform 1			29665808	Neurofibromatosis_type_1	0.333	ENSG00000196712	10168	g.chr17:29665808delG	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			847			847														0.25	1	1	0	1	0	0	0	0	0	--	--	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	0	-			NF1_uc002hgh.2_Frame_Shift_Del_p.Q2281fs|NF1_uc010cso.2_Frame_Shift_Del_p.Q490fs|NF1_uc010wbt.1_Intron|NF1_uc010wbu.1_RNA	39	GBM-06-0184-TP	p.Q2302fs	G	CCAAATTACAGCCACTTCTTA	NM_001042492	NP_001035957	29665808	P21359	NF1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	46	7239	+	-	-		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	Frame_Shift_Del	2302						
NF1	4763	broad.mit.edu	GRCh37	17	29548907	29548907	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0190-01	TCGA-06-0190-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358273.4:c.1681T>C	p.Trp561Arg	p.W561R	ENST00000358273	NM_001042492.2	561	Tgg/Cgg	0			1			C	W/R	uc002hgg.2	protein_coding	YES	CCDS42292.1			1681/8520	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma			p.?(2)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	c.(1681-1683)TGG>CGG			hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194	neurofibromin isoform 1				ENSP00000351015		15/58									COSM3402728,COSM3402727	15/58	.	Neurofibromatosis_type_1	ENST00000358273	Transcript	1		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	ENSG00000196712	g.chr17:29548907T>C	7765			MODERATE		2.305	medium	getma.org/?cm=msa&ty=f&p=NF1_HUMAN&rb=401&re=600&var=W561R	NA	getma.org/?cm=var&var=hg19,17,29548907,T,C&fts=all	W561R	--	--	1				TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																														NF1_uc002hgf.1_Missense_Mutation_p.W561R|NF1_uc002hgh.2_Missense_Mutation_p.W561R|NF1_uc010csn.1_Missense_Mutation_p.W421R	1,1	1		probably_damaging(0.986)	p.W561R	NM_001042492	NP_001035957		deleterious(0)	1,1	NF1_HUMAN	NF1	HGNC	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN		15	2014	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	UPI000012FFAE	561					SNV	NF1,missense_variant,p.Trp561Arg,ENST00000358273,NM_001042492.2;NF1,missense_variant,p.Trp561Arg,ENST00000356175,NM_000267.3;NF1,missense_variant,p.Trp227Arg,ENST00000456735,;NF1,missense_variant,p.Trp561Arg,ENST00000431387,NM_001128147.2;NF1,missense_variant,p.Trp595Arg,ENST00000579081,;NF1,3_prime_UTR_variant,,ENST00000495910,;NF1,upstream_gene_variant,,ENST00000493220,;NF1,downstream_gene_variant,,ENST00000487476,;	uc002hgg.2	c.1681T>C	2064/12425	3	3			c.1681T>C	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma	17	SNP	c.(1681-1683)TGG>CGG	49	49		p.?(2)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	Broad	neurofibromin isoform 1			29548907	Neurofibromatosis_type_1	0.279	ENSG00000196712	10168	g.chr17:29548907T>C	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			847			847	7.105369	KEEP	8	3	-1	37	56	8	3	-1	22.258731	37	56	0.096774	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	0	C			NF1_uc002hgf.1_Missense_Mutation_p.W561R|NF1_uc002hgh.2_Missense_Mutation_p.W561R|NF1_uc010csn.1_Missense_Mutation_p.W421R	43	GBM-06-0190-TP	p.W561R	T	CATTGATTTGTGGAATCCTGA	NM_001042492	NP_001035957	29548907	P21359	NF1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	15	2014	+	C	C		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	Missense_Mutation	561						
NF1	4763	broad.mit.edu	GRCh37	17	29586056	29586056	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0190-01	TCGA-06-0190-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358273.4:c.4339C>A	p.Gln1447Lys	p.Q1447K	ENST00000358273	NM_001042492.2	1447	Cag/Aag	0			1			A	Q/K	uc002hgg.2	protein_coding	YES	CCDS42292.1			4339/8520	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma			p.?(3)|p.Q1447K(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	c.(4339-4341)CAG>AAG			Superfamily_domains:SSF48350,SMART_domains:SM00323,Pfam_domain:PF00616,hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194,PROSITE_profiles:PS50018	neurofibromin isoform 1				ENSP00000351015		33/58									COSM35758,COSM1382119	33/58	.	Neurofibromatosis_type_1	ENST00000358273	Transcript	1		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	ENSG00000196712	g.chr17:29586056C>A	7765			MODERATE		3.73	high	getma.org/?cm=msa&ty=f&p=NF1_HUMAN&rb=1256&re=1451&var=Q1447K	getma.org/pdb.php?prot=NF1_HUMAN&from=1256&to=1451&var=Q1447K	getma.org/?cm=var&var=hg19,17,29586056,C,A&fts=all	Q1447K	--	--	1				TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																														NF1_uc002hgh.2_Missense_Mutation_p.Q1426K|NF1_uc002hgi.1_Missense_Mutation_p.Q459K	1,1	1		benign(0.185)	p.Q1447K	NM_001042492	NP_001035957		deleterious(0)	1,1	NF1_HUMAN	NF1	HGNC	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN		33	4672	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	UPI000012FFAE	1447			Ras-GAP.		SNV	NF1,missense_variant,p.Gln1447Lys,ENST00000358273,NM_001042492.2;NF1,missense_variant,p.Gln1426Lys,ENST00000356175,NM_000267.3;NF1,missense_variant,p.Gln1092Lys,ENST00000456735,;NF1,missense_variant,p.Gln1460Lys,ENST00000579081,;NF1,3_prime_UTR_variant,,ENST00000466819,;NF1,3_prime_UTR_variant,,ENST00000479614,;NF1,non_coding_transcript_exon_variant,,ENST00000493220,;NF1,downstream_gene_variant,,ENST00000495910,;	uc002hgg.2	c.4339C>A	4722/12425	2	2			c.4339C>A	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma	17	SNP	c.(4339-4341)CAG>AAG	18	18		p.?(3)|p.Q1447K(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	Broad	neurofibromin isoform 1			29586056	Neurofibromatosis_type_1	0.308	ENSG00000196712	10168	g.chr17:29586056C>A	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			847			847	34.191375	KEEP	5	7	0.583333333	14	10	5	7	0.583333333	34.538178	14	10	0.387097	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	0	A			NF1_uc002hgh.2_Missense_Mutation_p.Q1426K|NF1_uc002hgi.1_Missense_Mutation_p.Q459K	43	GBM-06-0190-TP	p.Q1447K	C	GTAGATACTTCAGAGTATTGC	NM_001042492	NP_001035957	29586056	P21359	NF1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	33	4672	+	A	A		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	Missense_Mutation	1447			Ras-GAP.			
NF1	4763	broad.mit.edu	GRCh37	17	29677208	29677209	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-06-0192-01	TCGA-06-0192-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358273.4:c.7330dup	p.Thr2444AsnfsTer4	p.T2444Nfs*4	ENST00000358273	NM_001042492.2	2443	-/A	0			1			A	-/X	uc002hgg.2	protein_coding	YES	CCDS42292.1			7329-7330/8520	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma				soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	c.(7327-7332)CTTACAfs			hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194	neurofibromin isoform 1				ENSP00000351015		50/58										50/58	.	Neurofibromatosis_type_1	ENST00000358273	Transcript	1		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	ENSG00000196712	g.chr17:29677208_29677209insA	7765	1		HIGH								--	--	1				TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																														NF1_uc002hgh.2_Frame_Shift_Ins_p.L2422fs|NF1_uc010cso.2_Frame_Shift_Ins_p.L631fs|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_RNA		1			p.L2443fs	NM_001042492	NP_001035957				NF1_HUMAN	NF1	HGNC	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN		50	7662_7663	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	UPI000012FFAE	2443_2444					insertion	NF1,frameshift_variant,p.Thr2444AsnfsTer4,ENST00000358273,NM_001042492.2;NF1,frameshift_variant,p.Thr2423AsnfsTer4,ENST00000356175,NM_000267.3;NF1,frameshift_variant,p.Thr2089AsnfsTer4,ENST00000456735,;NF1,frameshift_variant,p.Thr237AsnfsTer4,ENST00000444181,;NF1,frameshift_variant,p.Thr157AsnfsTer4,ENST00000417592,;NF1,frameshift_variant,p.Thr239AsnfsTer4,ENST00000471572,;NF1,frameshift_variant,p.Thr159AsnfsTer4,ENST00000581790,;NF1,3_prime_UTR_variant,,ENST00000579081,;NF1,downstream_gene_variant,,ENST00000582892,;AK4P1,downstream_gene_variant,,ENST00000581275,;	uc002hgg.2	c.7329_7330insA	7712-7713/12425	5	5			c.7329_7330insA	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma	17	INS	c.(7327-7332)CTTACAfs	63	63			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	Broad	neurofibromin isoform 1			29677209	Neurofibromatosis_type_1	0.356	ENSG00000196712	10168	g.chr17:29677208_29677209insA	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			847			847														0.38	1	0	0	1	1	0	0	0	0	--	--	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	0	A			NF1_uc002hgh.2_Frame_Shift_Ins_p.L2422fs|NF1_uc010cso.2_Frame_Shift_Ins_p.L631fs|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_RNA	44	GBM-06-0192-TP	p.L2443fs	-	TAGCTTTACTTACAGTGTCTGA	NM_001042492	NP_001035957	29677208	P21359	NF1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	50	7662_7663	+	A	A		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	Frame_Shift_Ins	2443_2444						
NF1	4763	broad.mit.edu	GRCh37	17	29654793	29654793	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01	TCGA-06-0214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358273.4:c.5545G>A	p.Asp1849Asn	p.D1849N	ENST00000358273	NM_001042492.2	1849	Gat/Aat	0			1			A	D/N	uc002hgg.2	protein_coding	YES	CCDS42292.1			5545/8520	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma			p.D1849N(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	c.(5545-5547)GAT>AAT			Superfamily_domains:SSF48371,hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194	neurofibromin isoform 1				ENSP00000351015		38/58									COSM35504,COSM3402745	38/58	.	Neurofibromatosis_type_1	ENST00000358273	Transcript	1		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	ENSG00000196712	g.chr17:29654793G>A	7765			MODERATE		2.99	medium	getma.org/?cm=msa&ty=f&p=NF1_HUMAN&rb=1737&re=1936&var=D1849N	NA	getma.org/?cm=var&var=hg19,17,29654793,G,A&fts=all	D1849N	--	--	1				TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																														NF1_uc002hgh.2_Missense_Mutation_p.D1828N|NF1_uc002hgi.1_Missense_Mutation_p.D861N|NF1_uc010cso.2_Missense_Mutation_p.D37N	1,1	1		probably_damaging(0.98)	p.D1849N	NM_001042492	NP_001035957		deleterious(0)	1,1	NF1_HUMAN	NF1	HGNC	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN		38	5878	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	UPI000012FFAE	1849					SNV	NF1,missense_variant,p.Asp1849Asn,ENST00000358273,NM_001042492.2;NF1,missense_variant,p.Asp1828Asn,ENST00000356175,NM_000267.3;NF1,missense_variant,p.Asp1494Asn,ENST00000456735,;NF1,non_coding_transcript_exon_variant,,ENST00000581113,;NF1,3_prime_UTR_variant,,ENST00000579081,;NF1,non_coding_transcript_exon_variant,,ENST00000493220,;NF1,upstream_gene_variant,,ENST00000479536,;	uc002hgg.2	c.5545G>A	5928/12425	2	2			c.5545G>A	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma	17	SNP	c.(5545-5547)GAT>AAT	17	17		p.D1849N(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	Broad	neurofibromin isoform 1			29654793	Neurofibromatosis_type_1	0.468	ENSG00000196712	10168	g.chr17:29654793G>A	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			847			847	106.617808	KEEP	20	21	-1	41	63	20	21	-1	112.033208	41	63	0.284615	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	0	A			NF1_uc002hgh.2_Missense_Mutation_p.D1828N|NF1_uc002hgi.1_Missense_Mutation_p.D861N|NF1_uc010cso.2_Missense_Mutation_p.D37N	50	GBM-06-0214-TP	p.D1849N	G	TCGGCCAAAAGATGTCCCTGG	NM_001042492	NP_001035957	29654793	P21359	NF1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	38	5878	+	A	A		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	Missense_Mutation	1849						
NF1	4763	broad.mit.edu	GRCh37	17	29541476	29541476	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-06-2562-01	TCGA-06-2562-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358273.4:c.1400del	p.Thr467AsnfsTer6	p.T467Nfs*6	ENST00000358273	NM_001042492.2	467	aCa/aa	0			1			-	T/X	uc002hgg.2	protein_coding	YES	CCDS42292.1			1400/8520	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma			p.?(2)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	c.(1399-1401)ACAfs			hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194	neurofibromin isoform 1				ENSP00000351015		13/58										13/58	.	Neurofibromatosis_type_1	ENST00000358273	Transcript	1		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	ENSG00000196712	g.chr17:29541476delC	7765			HIGH								--	--	1				TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																														NF1_uc002hge.1_Frame_Shift_Del_p.T467fs|NF1_uc002hgf.1_Frame_Shift_Del_p.T467fs|NF1_uc002hgh.2_Frame_Shift_Del_p.T467fs|NF1_uc010csn.1_Frame_Shift_Del_p.T327fs		1			p.T467fs	NM_001042492	NP_001035957				NF1_HUMAN	NF1	HGNC	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN		13	1733	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	UPI000012FFAE	467					deletion	NF1,frameshift_variant,p.Thr467AsnfsTer6,ENST00000358273,NM_001042492.2;NF1,frameshift_variant,p.Thr467AsnfsTer6,ENST00000356175,NM_000267.3;NF1,frameshift_variant,p.Thr133AsnfsTer6,ENST00000456735,;NF1,frameshift_variant,p.Thr467AsnfsTer6,ENST00000431387,NM_001128147.2;NF1,frameshift_variant,p.Thr501AsnfsTer6,ENST00000579081,;NF1,3_prime_UTR_variant,,ENST00000495910,;NF1,non_coding_transcript_exon_variant,,ENST00000487476,;	uc002hgg.2	c.1400delC	1783/12425	5	5			c.1400delC	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma	17	DEL	c.(1399-1401)ACAfs	17	17		p.?(2)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	Broad	neurofibromin isoform 1			29541476	Neurofibromatosis_type_1	0.289	ENSG00000196712	10168	g.chr17:29541476delC	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			847			847														0.19	1	1	0	1	0	0	0	0	0	--	--	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	0	-			NF1_uc002hge.1_Frame_Shift_Del_p.T467fs|NF1_uc002hgf.1_Frame_Shift_Del_p.T467fs|NF1_uc002hgh.2_Frame_Shift_Del_p.T467fs|NF1_uc010csn.1_Frame_Shift_Del_p.T327fs	85	GBM-06-2562-TP	p.T467fs	C	TAGAGTCTTACATTTAAAGAA	NM_001042492	NP_001035957	29541476	P21359	NF1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	13	1733	+	-	-		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	Frame_Shift_Del	467						
NF1	4763	broad.mit.edu	GRCh37	17	29653042	29653043	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-06-2569-01	TCGA-06-2569-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358273.4:c.5042dup	p.Asn1681LysfsTer3	p.N1681Kfs*3	ENST00000358273	NM_001042492.2	1680	-/A	0			1			A	-/X	uc002hgg.2	protein_coding	YES	CCDS42292.1			5040-5041/8520	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma				soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	c.(5038-5043)TATAACfs			SMART_domains:SM00516,Pfam_domain:PF13716,hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194,PROSITE_profiles:PS50191	neurofibromin isoform 1				ENSP00000351015		37/58										37/58	.	Neurofibromatosis_type_1	ENST00000358273	Transcript	1		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	ENSG00000196712	g.chr17:29653042_29653043insA	7765	2		HIGH								--	--	1				TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																														NF1_uc002hgh.2_Frame_Shift_Ins_p.Y1659fs|NF1_uc002hgi.1_Frame_Shift_Ins_p.Y692fs|NF1_uc010cso.2_5'UTR		1			p.Y1680fs	NM_001042492	NP_001035957				NF1_HUMAN	NF1	HGNC	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN		37	5373_5374	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	UPI000012FFAE	1680_1681			CRAL-TRIO.		insertion	NF1,frameshift_variant,p.Asn1681LysfsTer3,ENST00000358273,NM_001042492.2;NF1,frameshift_variant,p.Asn1660LysfsTer3,ENST00000356175,NM_000267.3;NF1,frameshift_variant,p.Asn1326LysfsTer3,ENST00000456735,;EVI2A,upstream_gene_variant,,ENST00000247270,NM_001003927.2;EVI2A,upstream_gene_variant,,ENST00000462804,NM_014210.3;EVI2A,upstream_gene_variant,,ENST00000461237,;NF1,non_coding_transcript_exon_variant,,ENST00000581113,;NF1,3_prime_UTR_variant,,ENST00000579081,;NF1,non_coding_transcript_exon_variant,,ENST00000493220,;NF1,upstream_gene_variant,,ENST00000479536,;	uc002hgg.2	c.5040_5041insA	5423-5424/12425	5	5			c.5040_5041insA	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma	17	INS	c.(5038-5043)TATAACfs	1	1			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	Broad	neurofibromin isoform 1			29653043	Neurofibromatosis_type_1	0.46	ENSG00000196712	10168	g.chr17:29653042_29653043insA	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			847			847														0.85	1	0	0	1	1	0	0	0	0	--	--	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	0	A			NF1_uc002hgh.2_Frame_Shift_Ins_p.Y1659fs|NF1_uc002hgi.1_Frame_Shift_Ins_p.Y692fs|NF1_uc010cso.2_5'UTR	90	GBM-06-2569-TP	p.Y1680fs	-	TCTATATCTATAACTGTAACTC	NM_001042492	NP_001035957	29653042	P21359	NF1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	37	5373_5374	+	A	A		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	Frame_Shift_Ins	1680_1681			CRAL-TRIO.			
NF1	4763	broad.mit.edu	GRCh37	17	29587504	29587504	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5408-01	TCGA-06-5408-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358273.4:c.4548G>A	p.Glu1516=	p.E1516=	ENST00000358273	NM_001042492.2	1516	gaG/gaA	0			1			A	E	uc002hgg.2	protein_coding	YES	CCDS42292.1			4548/8520	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma			p.?(3)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	c.(4546-4548)GAG>GAA			Superfamily_domains:SSF48350,SMART_domains:SM00323,Gene3D:1.10.494.10,hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194	neurofibromin isoform 1				ENSP00000351015		34/58									COSM3402740,COSM3402739	34/58	.	Neurofibromatosis_type_1	ENST00000358273	Transcript	1		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	ENSG00000196712	g.chr17:29587504G>A	7765			LOW								--	--	1				TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																														NF1_uc002hgh.2_Silent_p.E1495E|NF1_uc002hgi.1_Silent_p.E528E	1,1	1			p.E1516E	NM_001042492	NP_001035957			1,1	NF1_HUMAN	NF1	HGNC	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN		34	4881	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	UPI000012FFAE	1516					SNV	NF1,synonymous_variant,p.=,ENST00000358273,NM_001042492.2;NF1,synonymous_variant,p.=,ENST00000356175,NM_000267.3;NF1,synonymous_variant,p.=,ENST00000456735,;NF1,synonymous_variant,p.=,ENST00000579081,;NF1,3_prime_UTR_variant,,ENST00000466819,;NF1,3_prime_UTR_variant,,ENST00000479614,;NF1,non_coding_transcript_exon_variant,,ENST00000493220,;	uc002hgg.2	c.4548G>A	4931/12425	1	1			c.4548G>A	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma	17	SNP	c.(4546-4548)GAG>GAA	56	56		p.?(3)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	Broad	neurofibromin isoform 1			29587504	Neurofibromatosis_type_1	0.388	ENSG00000196712	10168	g.chr17:29587504G>A	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			847			847	8.453973	KEEP	5	11	-1	106	104	5	11	-1	39.452015	106	104	0.088398	1	0	0	0	0	0	0	1	0	--	--	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	0	A			NF1_uc002hgh.2_Silent_p.E1495E|NF1_uc002hgi.1_Silent_p.E528E	92	GBM-06-5408-TP	p.E1516E	G	ACAATCAGGAGAAAATTGGGC	NM_001042492	NP_001035957	29587504	P21359	NF1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	34	4881	+	A	A		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	Silent	1516						
NF1	4763	broad.mit.edu	GRCh37	17	29533304	29533304	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-06-5410-01	TCGA-06-5410-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358273.4:c.1307C>A	p.Ser436Ter	p.S436*	ENST00000358273	NM_001042492.2	436	tCg/tAg	0			1			A	S/*	uc002hgg.2	protein_coding	YES	CCDS42292.1			1307/8520	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma			p.?(2)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	c.(1306-1308)TCG>TAG			hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194	neurofibromin isoform 1				ENSP00000351015		Dec-58									COSM3402726,COSM3402725	Dec-58	.	Neurofibromatosis_type_1	ENST00000358273	Transcript	1		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	ENSG00000196712	g.chr17:29533304C>A	7765			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,17,29533304,C,A&fts=all	S436*	--	--	1				TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																														NF1_uc002hge.1_Nonsense_Mutation_p.S436*|NF1_uc002hgf.1_Nonsense_Mutation_p.S436*|NF1_uc002hgh.2_Nonsense_Mutation_p.S436*|NF1_uc010csn.1_Nonsense_Mutation_p.S296*	1,1	1			p.S436*	NM_001042492	NP_001035957			1,1	NF1_HUMAN	NF1	HGNC	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN		12	1640	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	UPI000012FFAE	436					SNV	NF1,stop_gained,p.Ser436Ter,ENST00000358273,NM_001042492.2;NF1,stop_gained,p.Ser436Ter,ENST00000356175,NM_000267.3;NF1,stop_gained,p.Ser102Ter,ENST00000456735,;NF1,stop_gained,p.Ser436Ter,ENST00000431387,NM_001128147.2;NF1,stop_gained,p.Ser470Ter,ENST00000579081,;NF1,3_prime_UTR_variant,,ENST00000495910,;NF1,non_coding_transcript_exon_variant,,ENST00000487476,;	uc002hgg.2	c.1307C>A	1690/12425	5	2			c.1307C>A	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma	17	SNP	c.(1306-1308)TCG>TAG	17	17		p.?(2)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	Broad	neurofibromin isoform 1			29533304	Neurofibromatosis_type_1	0.413	ENSG00000196712	10168	g.chr17:29533304C>A	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			847			847	12.143869	KEEP	7	8	0.533333333	59	85	7	8	0.533333333	35.032354	59	85	0.098592	1	0	0	0	0	0	1	0	0	--	--	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	0	A			NF1_uc002hge.1_Nonsense_Mutation_p.S436*|NF1_uc002hgf.1_Nonsense_Mutation_p.S436*|NF1_uc002hgh.2_Nonsense_Mutation_p.S436*|NF1_uc010csn.1_Nonsense_Mutation_p.S296*	93	GBM-06-5410-TP	p.S436*	C	TATTGTCACTCGGTTGAACTT	NM_001042492	NP_001035957	29533304	P21359	NF1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	12	1640	+	A	A		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	Nonsense_Mutation	436						
NF1	4763	broad.mit.edu	GRCh37	17	29652976	29652979	+	frameshift_variant	Frame_Shift_Del	DEL	TCTC	TCTC	-			TCGA-06-5412-01	TCGA-06-5412-01	TCTC	TCTC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358273.4:c.4977_4980del	p.Lys1661GlyfsTer36	p.K1661Gfs*36	ENST00000358273	NM_001042492.2	1658	ttTCTC/tt	0			1			-	FL/X	uc002hgg.2	protein_coding	YES	CCDS42292.1			4974-4977/8520	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma			p.S1660fs*37(2)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	c.(4972-4977)TTTCTCfs			SMART_domains:SM00516,Pfam_domain:PF13716,hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194,PROSITE_profiles:PS50191	neurofibromin isoform 1				ENSP00000351015		37/58									COSM1735867,COSM1735866	37/58	.	Neurofibromatosis_type_1	ENST00000358273	Transcript	1		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	ENSG00000196712	g.chr17:29652976_29652979delTCTC	7765	3		HIGH								--	--	1				TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																														NF1_uc002hgh.2_Frame_Shift_Del_p.F1637fs|NF1_uc002hgi.1_Frame_Shift_Del_p.F670fs|NF1_uc010cso.2_5'UTR	1,1	1			p.F1658fs	NM_001042492	NP_001035957			1,1	NF1_HUMAN	NF1	HGNC	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN		37	5307_5310	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	UPI000012FFAE	1658_1659			CRAL-TRIO.		deletion	NF1,frameshift_variant,p.Lys1661GlyfsTer36,ENST00000358273,NM_001042492.2;NF1,frameshift_variant,p.Lys1640GlyfsTer36,ENST00000356175,NM_000267.3;NF1,frameshift_variant,p.Lys1306GlyfsTer36,ENST00000456735,;EVI2A,upstream_gene_variant,,ENST00000247270,NM_001003927.2;EVI2A,upstream_gene_variant,,ENST00000462804,NM_014210.3;EVI2A,upstream_gene_variant,,ENST00000461237,;NF1,non_coding_transcript_exon_variant,,ENST00000581113,;NF1,3_prime_UTR_variant,,ENST00000579081,;NF1,non_coding_transcript_exon_variant,,ENST00000493220,;NF1,upstream_gene_variant,,ENST00000479536,;	uc002hgg.2	c.4974_4977delTCTC	5357-5360/12425	5	5			c.4974_4977delTCTC	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma	17	DEL	c.(4972-4977)TTTCTCfs	55	55		p.S1660fs*37(2)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	Broad	neurofibromin isoform 1			29652979	Neurofibromatosis_type_1	0.422	ENSG00000196712	10168	g.chr17:29652976_29652979delTCTC	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			847			847														0.19	1	1	0	1	0	0	0	0	0	--	--	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	0	-			NF1_uc002hgh.2_Frame_Shift_Del_p.F1637fs|NF1_uc002hgi.1_Frame_Shift_Del_p.F670fs|NF1_uc010cso.2_5'UTR	95	GBM-06-5412-TP	p.F1658fs	TCTC	AAACAGACTTTCTCTCTAAGTGGT	NM_001042492	NP_001035957	29652976	P21359	NF1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	37	5307_5310	+	-	-		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	Frame_Shift_Del	1658_1659			CRAL-TRIO.			
NF1	0	broad.mit.edu	GRCh37	17	29661898	29661898	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-6698-01	TCGA-06-6698-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358273.4:c.5855G>A	p.Trp1952Ter	p.W1952*	ENST00000358273	NM_001042492.2	1952	tGg/tAg	0			1			A	W/*	uc002hgg.2	protein_coding	YES	CCDS42292.1			5855/8520	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma				soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	c.(5854-5856)TGG>TAG			Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194	neurofibromin isoform 1				ENSP00000351015		40/58									COSM3402747,COSM3402746	40/58	.	Neurofibromatosis_type_1	ENST00000358273	Transcript	1		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	ENSG00000196712	g.chr17:29661898G>A	7765			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,17,29661898,G,A&fts=all	W1952*	--	--	1				TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																														NF1_uc002hgh.2_Nonsense_Mutation_p.W1931*|NF1_uc010cso.2_Nonsense_Mutation_p.W140*|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	1,1	1			p.W1952*	NM_001042492	NP_001035957			1,1	NF1_HUMAN	NF1	HGNC	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN		40	6188	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	UPI000012FFAE	1952		W -> R (in NF1).			SNV	NF1,stop_gained,p.Trp1952Ter,ENST00000358273,NM_001042492.2;NF1,stop_gained,p.Trp1931Ter,ENST00000356175,NM_000267.3;NF1,stop_gained,p.Trp1597Ter,ENST00000456735,;NF1,upstream_gene_variant,,ENST00000444181,;NF1,upstream_gene_variant,,ENST00000417592,;NF1,non_coding_transcript_exon_variant,,ENST00000581113,;NF1,3_prime_UTR_variant,,ENST00000579081,;NF1,3_prime_UTR_variant,,ENST00000479536,;NF1,downstream_gene_variant,,ENST00000493220,;NF1,upstream_gene_variant,,ENST00000471572,;NF1,upstream_gene_variant,,ENST00000581790,;NF1,upstream_gene_variant,,ENST00000584328,;	uc002hgg.2	c.5855G>A	6238/12425	5	2			c.5855G>A	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma	17	SNP	c.(5854-5856)TGG>TAG	17	17			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	Broad	neurofibromin isoform 1			29661898	Neurofibromatosis_type_1	0.343	ENSG00000196712	10168	g.chr17:29661898G>A	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			847			847	160.292878	KEEP	30	28	-1	17	15	30	28	-1	161.847815	17	15	0.653333	1	0	0	0	0	0	1	0	0	--	--	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	0	A			NF1_uc002hgh.2_Nonsense_Mutation_p.W1931*|NF1_uc010cso.2_Nonsense_Mutation_p.W140*|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	112	GBM-06-6698-TP	p.W1952*	G	ATGACTCCATGGCTGTCAAAT	NM_001042492	NP_001035957	29661898	P21359	NF1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	40	6188	+	A	A		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	Nonsense_Mutation	1952		W -> R (in NF1).				
NF1	0	broad.mit.edu	GRCh37	17	29685497	29685497	+	splice_acceptor_variant	Splice_Site	DEL	G	G	-			TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358273.4:c.7971delG	p.His2658IlefsTer21	p.H2658Ifs*21	ENST00000358273	NM_001042492.2			0			1			-		uc002hgg.2	protein_coding	YES	CCDS42292.1			7971/8520	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma				soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	c.e55-1				neurofibromin isoform 1				ENSP00000351015													.	Neurofibromatosis_type_1	ENST00000358273	Transcript	1		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	ENSG00000196712	g.chr17:29685497delG	7765	1		HIGH	54/57							--	--	1				TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																														NF1_uc002hgh.2_Splice_Site_p.V2636_splice|NF1_uc010cso.2_Splice_Site_p.V845_splice|NF1_uc010wbt.1_Splice_Site_p.V135_splice|NF1_uc010wbu.1_Splice_Site		1			p.V2657_splice	NM_001042492	NP_001035957				NF1_HUMAN	NF1	HGNC	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN		55	8304	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	UPI000012FFAE						deletion	NF1,splice_acceptor_variant,p.His2658IlefsTer21,ENST00000358273,NM_001042492.2;NF1,splice_acceptor_variant,p.His2637IlefsTer21,ENST00000356175,NM_000267.3;NF1,splice_acceptor_variant,p.His2303IlefsTer21,ENST00000456735,;NF1,splice_acceptor_variant,p.His451IlefsTer21,ENST00000444181,;NF1,splice_acceptor_variant,,ENST00000417592,;NF1,upstream_gene_variant,,ENST00000468273,;NF1,splice_acceptor_variant,,ENST00000579081,;NF1,splice_acceptor_variant,p.His453IlefsTer21,ENST00000471572,;NF1,splice_acceptor_variant,,ENST00000581790,;NF1,non_coding_transcript_exon_variant,,ENST00000577967,;	uc002hgg.2	c.7971_splice	-/12425	5	5			c.7971_splice	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma	17	DEL	c.e55-1	28	28			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	Broad	neurofibromin isoform 1			29685497	Neurofibromatosis_type_1	0.333	ENSG00000196712	10168	g.chr17:29685497delG	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			847			847														0.51	1	1	0	1	0	0	0	0	1	--	--	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	0	-			NF1_uc002hgh.2_Splice_Site_p.V2636_splice|NF1_uc010cso.2_Splice_Site_p.V845_splice|NF1_uc010wbt.1_Splice_Site_p.V135_splice|NF1_uc010wbu.1_Splice_Site	142	GBM-14-1034-TP	p.V2657_splice	G	TTTTCTTTTAGGCATAATTTG	NM_001042492	NP_001035957	29685497	P21359	NF1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	55	8304	+	-	-		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	Splice_Site							
NF1	0	broad.mit.edu	GRCh37	17	29661945	29661945	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs137854552		TCGA-14-1043-01	TCGA-14-1043-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358273.4:c.5902C>T	p.Arg1968Ter	p.R1968*	ENST00000358273	NM_001042492.2	1968	Cga/Tga	0			1			T	R/*	uc002hgg.2	protein_coding	YES	CCDS42292.1			5902/8520	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma	pathogenic		p.R1968*(2)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	c.(5902-5904)CGA>TGA			Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194	neurofibromin isoform 1				ENSP00000351015		40/58									rs137854552,COSM30766,COSM3402748	40/58	.	Neurofibromatosis_type_1	ENST00000358273	Transcript	1		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	ENSG00000196712	g.chr17:29661945C>T	7765			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,17,29661945,C,T&fts=all	R1968*	--	--	1				TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																														NF1_uc002hgh.2_Nonsense_Mutation_p.R1947*|NF1_uc010cso.2_Nonsense_Mutation_p.R156*|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	1,1,1	1			p.R1968*	NM_001042492	NP_001035957			0,1,1	NF1_HUMAN	NF1	HGNC	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN		40	6235	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	UPI000012FFAE	1968					SNV	NF1,stop_gained,p.Arg1968Ter,ENST00000358273,NM_001042492.2;NF1,stop_gained,p.Arg1947Ter,ENST00000356175,NM_000267.3;NF1,stop_gained,p.Arg1613Ter,ENST00000456735,;NF1,upstream_gene_variant,,ENST00000444181,;NF1,upstream_gene_variant,,ENST00000417592,;NF1,non_coding_transcript_exon_variant,,ENST00000581113,;NF1,3_prime_UTR_variant,,ENST00000579081,;NF1,3_prime_UTR_variant,,ENST00000479536,;NF1,downstream_gene_variant,,ENST00000493220,;NF1,upstream_gene_variant,,ENST00000471572,;NF1,upstream_gene_variant,,ENST00000581790,;NF1,upstream_gene_variant,,ENST00000584328,;	uc002hgg.2	c.5902C>T	6285/12425	5	1			c.5902C>T	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma	17	SNP	c.(5902-5904)CGA>TGA	9	9		p.R1968*(2)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	Broad	neurofibromin isoform 1			29661945	Neurofibromatosis_type_1	0.368	ENSG00000196712	10168	g.chr17:29661945C>T	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			847			847	48.096599	KEEP	13	6	-1	24	26	13	6	-1	50.314218	24	26	0.301587	1	0	0	0	0	0	1	0	0	--	--	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	0	T			NF1_uc002hgh.2_Nonsense_Mutation_p.R1947*|NF1_uc010cso.2_Nonsense_Mutation_p.R156*|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	143	GBM-14-1043-TP	p.R1968*	C	TGATGCCAAACGACAAAGAGT	NM_001042492	NP_001035957	29661945	P21359	NF1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	40	6235	+	T	T		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	Nonsense_Mutation	1968						
NF1	0	broad.mit.edu	GRCh37	17	29667528	29667528	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-26-5133-01	TCGA-26-5133-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358273.4:c.6927delG	p.Pro2310LeufsTer9	p.P2310Lfs*9	ENST00000358273	NM_001042492.2	2309	tcG/tc	0			1			-	S/X	uc002hgg.2	protein_coding	YES	CCDS42292.1			6927/8520	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma				soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	c.(6925-6927)TCGfs			Superfamily_domains:SSF48371,hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194	neurofibromin isoform 1				ENSP00000351015		47/58									COSM2156969,COSM2156968	47/58	.	Neurofibromatosis_type_1	ENST00000358273	Transcript	1		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	ENSG00000196712	g.chr17:29667528delG	7765			HIGH								--	--	1				TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																														NF1_uc002hgh.2_Frame_Shift_Del_p.S2288fs|NF1_uc010cso.2_Frame_Shift_Del_p.S497fs|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_RNA	1,1	1			p.S2309fs	NM_001042492	NP_001035957			1,1	NF1_HUMAN	NF1	HGNC	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN		47	7260	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	UPI000012FFAE	2309					deletion	NF1,frameshift_variant,p.Pro2310LeufsTer9,ENST00000358273,NM_001042492.2;NF1,frameshift_variant,p.Pro2289LeufsTer9,ENST00000356175,NM_000267.3;NF1,frameshift_variant,p.Pro1955LeufsTer9,ENST00000456735,;NF1,frameshift_variant,p.Pro103LeufsTer9,ENST00000444181,;NF1,frameshift_variant,p.Pro23LeufsTer9,ENST00000417592,;NF1,downstream_gene_variant,,ENST00000581113,;NF1,frameshift_variant,p.Pro105LeufsTer9,ENST00000471572,;NF1,frameshift_variant,p.Pro25LeufsTer9,ENST00000581790,;NF1,3_prime_UTR_variant,,ENST00000579081,;NF1,non_coding_transcript_exon_variant,,ENST00000584328,;NF1,non_coding_transcript_exon_variant,,ENST00000582892,;NF1,downstream_gene_variant,,ENST00000479536,;	uc002hgg.2	c.6927delG	7310/12425	5	5			c.6927delG	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma	17	DEL	c.(6925-6927)TCGfs	4	4			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	Broad	neurofibromin isoform 1			29667528	Neurofibromatosis_type_1	0.443	ENSG00000196712	10168	g.chr17:29667528delG	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			847			847														0.7	1	1	0	1	0	0	0	0	0	--	--	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	0	-			NF1_uc002hgh.2_Frame_Shift_Del_p.S2288fs|NF1_uc010cso.2_Frame_Shift_Del_p.S497fs|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_RNA	182	GBM-26-5133-TP	p.S2309fs	G	GCCAGGACTCGCCTCTGCACA	NM_001042492	NP_001035957	29667528	P21359	NF1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	47	7260	+	-	-		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	Frame_Shift_Del	2309						
NF1	0	broad.mit.edu	GRCh37	17	29496924	29496927	+	frameshift_variant	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-28-2502-01	TCGA-28-2502-01	TGTT	TGTT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358273.4:c.499_502delTGTT	p.Cys167GlnfsTer10	p.C167Qfs*10	ENST00000358273	NM_001042492.2	165	acTGTT/ac	0			1			-	TV/X	uc002hgg.2	protein_coding	YES	CCDS42292.1			495-498/8520	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma			p.C167fs*10(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	c.(493-498)ACTGTTfs			hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194	neurofibromin isoform 1				ENSP00000351015		May-58									COSM36867	May-58	.	Neurofibromatosis_type_1	ENST00000358273	Transcript	1		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	ENSG00000196712	g.chr17:29496924_29496927delTGTT	7765	4		HIGH								--	--	1				TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																														NF1_uc002hge.1_Frame_Shift_Del_p.T165fs|NF1_uc002hgf.1_Frame_Shift_Del_p.T165fs|NF1_uc002hgh.2_Frame_Shift_Del_p.T165fs|NF1_uc010csn.1_Intron	1	1			p.T165fs	NM_001042492	NP_001035957			1	NF1_HUMAN	NF1	HGNC	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN		5	828_831	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	UPI000012FFAE	165_166					deletion	NF1,frameshift_variant,p.Cys167GlnfsTer10,ENST00000358273,NM_001042492.2;NF1,frameshift_variant,p.Cys167GlnfsTer10,ENST00000356175,NM_000267.3;NF1,frameshift_variant,p.Cys167GlnfsTer10,ENST00000431387,NM_001128147.2;NF1,frameshift_variant,p.Cys100GlnfsTer10,ENST00000489712,;NF1,frameshift_variant,p.Cys201GlnfsTer10,ENST00000579081,;NF1,non_coding_transcript_exon_variant,,ENST00000487476,;NF1,intron_variant,,ENST00000495910,;NF1,intron_variant,,ENST00000490416,;	uc002hgg.2	c.495_498delTGTT	878-881/12425	5	5			c.495_498delTGTT	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma	17	DEL	c.(493-498)ACTGTTfs	41	41		p.C167fs*10(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	Broad	neurofibromin isoform 1			29496927	Neurofibromatosis_type_1	0.225	ENSG00000196712	10168	g.chr17:29496924_29496927delTGTT	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			847			847														0.28	1	1	0	1	0	0	0	0	0	--	--	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	0	-			NF1_uc002hge.1_Frame_Shift_Del_p.T165fs|NF1_uc002hgf.1_Frame_Shift_Del_p.T165fs|NF1_uc002hgh.2_Frame_Shift_Del_p.T165fs|NF1_uc010csn.1_Intron	210	GBM-28-2502-TP	p.T165fs	TGTT	AGGAATTAACTGTTTGTTCAGAAG	NM_001042492	NP_001035957	29496924	P21359	NF1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	5	828_831	+	-	-		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	Frame_Shift_Del	165_166						
NF1	0	broad.mit.edu	GRCh37	17	29552132	29552132	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-28-5208-01	TCGA-28-5208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358273.4:c.1865G>T	p.Cys622Phe	p.C622F	ENST00000358273	NM_001042492.2	622	tGt/tTt	0			1			T	C/F	uc002hgg.2	protein_coding	YES	CCDS42292.1			1865/8520	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma			p.?(2)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	c.(1864-1866)TGT>TTT			hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194	neurofibromin isoform 1				ENSP00000351015		17/58									COSM3402730,COSM3402729	17/58	.	Neurofibromatosis_type_1	ENST00000358273	Transcript	1		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	ENSG00000196712	g.chr17:29552132G>T	7765			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=NF1_HUMAN&rb=601&re=800&var=C622F	NA	getma.org/?cm=var&var=hg19,17,29552132,G,T&fts=all	C622F	--	--	1				TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																														NF1_uc002hgh.2_Missense_Mutation_p.C622F|NF1_uc010csn.1_Missense_Mutation_p.C482F|NF1_uc002hgi.1_5'UTR	1,1	1		benign(0.003)	p.C622F	NM_001042492	NP_001035957		deleterious_low_confidence(0.05)	1,1	NF1_HUMAN	NF1	HGNC	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN		17	2198	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	UPI000012FFAE	622					SNV	NF1,missense_variant,p.Cys622Phe,ENST00000358273,NM_001042492.2;NF1,missense_variant,p.Cys622Phe,ENST00000356175,NM_000267.3;NF1,missense_variant,p.Cys288Phe,ENST00000456735,;NF1,downstream_gene_variant,,ENST00000431387,NM_001128147.2;NF1,missense_variant,p.Cys656Phe,ENST00000579081,;NF1,3_prime_UTR_variant,,ENST00000495910,;NF1,non_coding_transcript_exon_variant,,ENST00000493220,;	uc002hgg.2	c.1865G>T	2248/12425	1	1			c.1865G>T	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma	17	SNP	c.(1864-1866)TGT>TTT	5	5		p.?(2)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	Broad	neurofibromin isoform 1			29552132	Neurofibromatosis_type_1	0.373	ENSG00000196712	10168	g.chr17:29552132G>T	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			847			847	446.422833	KEEP	89	71	0.55625	111	122	89	71	0.55625	449.188699	111	122	0.405634	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	0	T			NF1_uc002hgh.2_Missense_Mutation_p.C622F|NF1_uc010csn.1_Missense_Mutation_p.C482F|NF1_uc002hgi.1_5'UTR	217	GBM-28-5208-TP	p.C622F	G	AGAAGTTCCTGTCACTTTCTC	NM_001042492	NP_001035957	29552132	P21359	NF1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	17	2198	+	T	T		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	Missense_Mutation	622						
NF1	0	broad.mit.edu	GRCh37	17	29527568	29527569	+	frameshift_variant	Frame_Shift_Del	DEL	CT	CT	-			TCGA-28-6450-01	TCGA-28-6450-01	CT	CT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358273.4:c.1019_1020delCT	p.Ser340CysfsTer12	p.S340Cfs*12	ENST00000358273	NM_001042492.2	339	aaCTct/aact	0			1			-	NS/NX	uc002hgg.2	protein_coding	YES	CCDS42292.1			1017-1018/8520	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma			p.?(2)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	c.(1015-1020)AACTCTfs			hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194	neurofibromin isoform 1				ENSP00000351015		Sep-58										Sep-58	.	Neurofibromatosis_type_1	ENST00000358273	Transcript	1		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	ENSG00000196712	g.chr17:29527568_29527569delCT	7765	2		HIGH								--	--	1				TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																														NF1_uc002hge.1_Frame_Shift_Del_p.N339fs|NF1_uc002hgf.1_Frame_Shift_Del_p.N339fs|NF1_uc002hgh.2_Frame_Shift_Del_p.N339fs|NF1_uc010csn.1_Frame_Shift_Del_p.N199fs		1			p.N339fs	NM_001042492	NP_001035957				NF1_HUMAN	NF1	HGNC	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN		9	1350_1351	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	UPI000012FFAE	339_340					deletion	NF1,frameshift_variant,p.Ser340CysfsTer12,ENST00000358273,NM_001042492.2;NF1,frameshift_variant,p.Ser340CysfsTer12,ENST00000356175,NM_000267.3;NF1,frameshift_variant,p.Ser6CysfsTer12,ENST00000456735,;NF1,frameshift_variant,p.Ser340CysfsTer12,ENST00000431387,NM_001128147.2;NF1,frameshift_variant,p.Ser374CysfsTer12,ENST00000579081,;NF1,3_prime_UTR_variant,,ENST00000495910,;NF1,non_coding_transcript_exon_variant,,ENST00000487476,;	uc002hgg.2	c.1017_1018delCT	1400-1401/12425	5	5			c.1017_1018delCT	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma	17	DEL	c.(1015-1020)AACTCTfs	25	25		p.?(2)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	Broad	neurofibromin isoform 1			29527569	Neurofibromatosis_type_1	0.381	ENSG00000196712	10168	g.chr17:29527568_29527569delCT	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity		p.S340A(RT112-Tumor)	847		p.S340A(RT112-Tumor)	847														0.26	1	1	0	1	0	0	0	0	0	--	--	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	0	-			NF1_uc002hge.1_Frame_Shift_Del_p.N339fs|NF1_uc002hgf.1_Frame_Shift_Del_p.N339fs|NF1_uc002hgh.2_Frame_Shift_Del_p.N339fs|NF1_uc010csn.1_Frame_Shift_Del_p.N199fs	227	GBM-28-6450-TP	p.N339fs	CT	GGGAAGATAACTCTGTCATTTT	NM_001042492	NP_001035957	29527568	P21359	NF1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	9	1350_1351	+	-	-		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	Frame_Shift_Del	339_340						
NF1	0	broad.mit.edu	GRCh37	17	29663349	29663349	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G			TCGA-32-1980-01	TCGA-32-1980-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358273.4:c.6007-2A>G		p.X2003_splice	ENST00000358273	NM_001042492.2			0			1			G		uc002hgg.2	protein_coding	YES	CCDS42292.1			6007/8520	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma				soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	c.e41-2				neurofibromin isoform 1				ENSP00000351015											COSM3402750,COSM3402749		.	Neurofibromatosis_type_1	ENST00000358273	Transcript	1		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	ENSG00000196712	g.chr17:29663349A>G	7765			HIGH	40/57							--	--	1				TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																														NF1_uc002hgh.2_Splice_Site_p.I1982_splice|NF1_uc010cso.2_Splice_Site_p.I191_splice|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	1,1	1			p.I2003_splice	NM_001042492	NP_001035957			1,1	NF1_HUMAN	NF1	HGNC	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN		41	6340	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	UPI000012FFAE						SNV	NF1,splice_acceptor_variant,,ENST00000358273,NM_001042492.2;NF1,splice_acceptor_variant,,ENST00000356175,NM_000267.3;NF1,splice_acceptor_variant,,ENST00000456735,;NF1,upstream_gene_variant,,ENST00000444181,;NF1,upstream_gene_variant,,ENST00000417592,;NF1,splice_acceptor_variant,,ENST00000581113,;NF1,splice_acceptor_variant,,ENST00000579081,;NF1,splice_acceptor_variant,,ENST00000479536,;NF1,downstream_gene_variant,,ENST00000493220,;NF1,upstream_gene_variant,,ENST00000471572,;NF1,upstream_gene_variant,,ENST00000581790,;NF1,upstream_gene_variant,,ENST00000584328,;NF1,upstream_gene_variant,,ENST00000582892,;	uc002hgg.2	c.6007_splice	-/12425	5	3			c.6007_splice	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma	17	SNP	c.e41-2	51	51			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	Broad	neurofibromin isoform 1			29663349	Neurofibromatosis_type_1	0.323	ENSG00000196712	10168	g.chr17:29663349A>G	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			847			847	3.903225	KEEP	0	3	-1	18	14	0	3	-1	8.951705	18	14	0.096774	1	0	0	0	0	0	0	0	1	--	--	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	0	G			NF1_uc002hgh.2_Splice_Site_p.I1982_splice|NF1_uc010cso.2_Splice_Site_p.I191_splice|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	231	GBM-32-1980-TP	p.I2003_splice	A	TTCTTCAACTAGATTACAGAT	NM_001042492	NP_001035957	29663349	P21359	NF1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	41	6340	+	G	G		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	Splice_Site							
NF1	0	broad.mit.edu	GRCh37	17	29556164	29556164	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs137854566		TCGA-32-1986-01	TCGA-32-1986-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358273.4:c.2531T>C	p.Leu844Pro	p.L844P	ENST00000358273	NM_001042492.2	844	cTt/cCt	0			1			C	L/P	uc002hgg.2	protein_coding	YES	CCDS42292.1			2531/8520	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma	not_provided,pathogenic		p.?(2)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	c.(2530-2532)CTT>CCT			hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194	neurofibromin isoform 1				ENSP00000351015		21/58									rs137854566,COSM3402734,COSM3402733	21/58	.	Neurofibromatosis_type_1	ENST00000358273	Transcript	1		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	ENSG00000196712	g.chr17:29556164T>C	7765			MODERATE		2.395	medium	getma.org/?cm=msa&ty=f&p=NF1_HUMAN&rb=801&re=1000&var=L844P	NA	getma.org/?cm=var&var=hg19,17,29556164,T,C&fts=all	L844P	--	--	1				TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																														NF1_uc002hgh.2_Missense_Mutation_p.L844P|NF1_uc010csn.1_Missense_Mutation_p.L704P|NF1_uc002hgi.1_5'UTR	1,1,1	1	15060124	probably_damaging(0.991)	p.L844P	NM_001042492	NP_001035957		deleterious(0)	0,1,1	NF1_HUMAN	NF1	HGNC	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN		21	2864	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	UPI000012FFAE	844		L -> F (in NF1).|L -> P (in NF1).|L -> R (in NF1; sporadic).			SNV	NF1,missense_variant,p.Leu844Pro,ENST00000358273,NM_001042492.2;NF1,missense_variant,p.Leu844Pro,ENST00000356175,NM_000267.3;NF1,missense_variant,p.Leu510Pro,ENST00000456735,;NF1,missense_variant,p.Leu878Pro,ENST00000579081,;NF1,3_prime_UTR_variant,,ENST00000495910,;NF1,non_coding_transcript_exon_variant,,ENST00000493220,;NF1,upstream_gene_variant,,ENST00000466819,;NF1,upstream_gene_variant,,ENST00000479614,;	uc002hgg.2	c.2531T>C	2914/12425	4	4			c.2531T>C	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma	17	SNP	c.(2530-2532)CTT>CCT	36	36		p.?(2)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	Broad	neurofibromin isoform 1			29556164	Neurofibromatosis_type_1	0.517	ENSG00000196712	10168	g.chr17:29556164T>C	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			847			847	67.184361	KEEP	5	18	-1	18	23	5	18	-1	68.535651	18	23	0.338983	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	0	C			NF1_uc002hgh.2_Missense_Mutation_p.L844P|NF1_uc010csn.1_Missense_Mutation_p.L704P|NF1_uc002hgi.1_5'UTR	233	GBM-32-1986-TP	p.L844P	T	ACTGGCTTCCTTTGTGCCCTT	NM_001042492	NP_001035957	29556164	P21359	NF1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	21	2864	+	C	C		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	Missense_Mutation	844		L -> F (in NF1).|L -> P (in NF1).|L -> R (in NF1; sporadic).				
NF1	0	broad.mit.edu	GRCh37	17	29508438	29508438	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G			TCGA-32-2494-01	TCGA-32-2494-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358273.4:c.587-2A>G		p.X196_splice	ENST00000358273	NM_001042492.2			0			1			G		uc002hgg.2	protein_coding	YES	CCDS42292.1			587/8520	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma				soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	c.e6-2				neurofibromin isoform 1				ENSP00000351015											COSM3402720,COSM3402719		.	Neurofibromatosis_type_1	ENST00000358273	Transcript	1		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	ENSG00000196712	g.chr17:29508438A>G	7765			HIGH	May-57							--	--	1				TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																														NF1_uc002hge.1_Splice_Site_p.E196_splice|NF1_uc002hgf.1_Splice_Site_p.E196_splice|NF1_uc002hgh.2_Splice_Site_p.E196_splice|NF1_uc010csn.1_Splice_Site_p.E56_splice	1,1	1			p.E196_splice	NM_001042492	NP_001035957			1,1	NF1_HUMAN	NF1	HGNC	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN		6	920	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	UPI000012FFAE						SNV	NF1,splice_acceptor_variant,,ENST00000358273,NM_001042492.2;NF1,splice_acceptor_variant,,ENST00000356175,NM_000267.3;NF1,splice_acceptor_variant,,ENST00000431387,NM_001128147.2;NF1,splice_acceptor_variant,,ENST00000579081,;NF1,splice_acceptor_variant,,ENST00000495910,;NF1,splice_acceptor_variant,,ENST00000487476,;NF1,splice_acceptor_variant,,ENST00000490416,;	uc002hgg.2	c.587_splice	-/12425	5	4			c.587_splice	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma	17	SNP	c.e6-2	21	21			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	Broad	neurofibromin isoform 1			29508438	Neurofibromatosis_type_1	0.299	ENSG00000196712	10168	g.chr17:29508438A>G	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			847			847	-6.627544	KEEP	1	3	-1	28	37	1	3	-1	6.540257	28	37	0.04918	1	0	0	0	0	0	0	0	1	--	--	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	0	G			NF1_uc002hge.1_Splice_Site_p.E196_splice|NF1_uc002hgf.1_Splice_Site_p.E196_splice|NF1_uc002hgh.2_Splice_Site_p.E196_splice|NF1_uc010csn.1_Splice_Site_p.E56_splice	236	GBM-32-2494-TP	p.E196_splice	A	TGTTTTTTCCAGAAACAGCAT	NM_001042492	NP_001035957	29508438	P21359	NF1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	6	920	+	G	G		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	Splice_Site							
NF1	0	broad.mit.edu	GRCh37	17	29550520	29550543	+	inframe_deletion	In_Frame_Del	DEL	ACAGAAATTCTCAAGTGGTTGCGG	ACAGAAATTCTCAAGTGGTTGCGG	-			TCGA-41-3392-01	TCGA-41-3392-01	ACAGAAATTCTCAAGTGGTTGCGG	ACAGAAATTCTCAAGTGGTTGCGG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358273.4:c.1780_1803delACAGAAATTCTCAAGTGGTTGCGG	p.Thr594_Arg601del	p.T594_R601del	ENST00000358273	NM_001042492.2	594	ACAGAAATTCTCAAGTGGTTGCGG/-	0			1			-	TEILKWLR/-	uc002hgg.2	protein_coding	YES	CCDS42292.1			1780-1803/8520	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma			p.?(2)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	c.(1780-1803)ACAGAAATTCTCAAGTGGTTGCGGdel			hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194	neurofibromin isoform 1				ENSP00000351015		16/58										16/58	.	Neurofibromatosis_type_1	ENST00000358273	Transcript	1		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	ENSG00000196712	g.chr17:29550520_29550543delACAGAAATTCTCAAGTGGTTGCGG	7765			MODERATE								--	--	1				TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																														NF1_uc002hgh.2_In_Frame_Del_p.TEILKWLR594del|NF1_uc010csn.1_In_Frame_Del_p.TEILKWLR454del|NF1_uc002hgi.1_5'Flank		1			p.TEILKWLR594del	NM_001042492	NP_001035957				NF1_HUMAN	NF1	HGNC	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN		16	2113_2136	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	UPI000012FFAE	594_601					deletion	NF1,inframe_deletion,p.Thr594_Arg601del,ENST00000358273,NM_001042492.2;NF1,inframe_deletion,p.Thr594_Arg601del,ENST00000356175,NM_000267.3;NF1,inframe_deletion,p.Thr260_Arg267del,ENST00000456735,;NF1,downstream_gene_variant,,ENST00000431387,NM_001128147.2;NF1,inframe_deletion,p.Thr628_Arg635del,ENST00000579081,;NF1,3_prime_UTR_variant,,ENST00000495910,;NF1,upstream_gene_variant,,ENST00000493220,;NF1,downstream_gene_variant,,ENST00000487476,;	uc002hgg.2	c.1780_1803delACAGAAATTCTCAAGTGGTTGCGG	2163-2186/12425	5	5			c.1780_1803delACAGAAATTCTCAAGTGGTTGCGG	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma	17	DEL	c.(1780-1803)ACAGAAATTCTCAAGTGGTTGCGGdel	50	50		p.?(2)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	Broad	neurofibromin isoform 1			29550543	Neurofibromatosis_type_1	0.312	ENSG00000196712	10168	g.chr17:29550520_29550543delACAGAAATTCTCAAGTGGTTGCGG	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity		p.E595*(HT115-Tumor)	847		p.E595*(HT115-Tumor)	847														0.15	1	1	0	1	0	0	0	0	0	--	--	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	0	-			NF1_uc002hgh.2_In_Frame_Del_p.TEILKWLR594del|NF1_uc010csn.1_In_Frame_Del_p.TEILKWLR454del|NF1_uc002hgi.1_5'Flank	254	GBM-41-3392-TP	p.TEILKWLR594del	ACAGAAATTCTCAAGTGGTTGCGG	GCTTAGTAGCACAGAAATTCTCAAGTGGTTGCGGGAAATATTGA	NM_001042492	NP_001035957	29550520	P21359	NF1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	16	2113_2136	+	-	-		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	In_Frame_Del	594_601						
NF1	0	broad.mit.edu	GRCh37	17	29508778	29508778	+	stop_gained	Nonsense_Mutation	SNP	C	C	G			TCGA-41-4097-01	TCGA-41-4097-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358273.4:c.705C>G	p.Tyr235Ter	p.Y235*	ENST00000358273	NM_001042492.2	235	taC/taG	0			1			G	Y/*	uc002hgg.2	protein_coding	YES	CCDS42292.1			705/8520	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma				soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	c.(703-705)TAC>TAG			hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194	neurofibromin isoform 1				ENSP00000351015		Jul-58									COSM3402724,COSM3402723	Jul-58	.	Neurofibromatosis_type_1	ENST00000358273	Transcript	1		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	ENSG00000196712	g.chr17:29508778C>G	7765			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,17,29508778,C,G&fts=all	Y235*	--	--	1				TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																														NF1_uc002hge.1_Nonsense_Mutation_p.Y235*|NF1_uc002hgf.1_Nonsense_Mutation_p.Y235*|NF1_uc002hgh.2_Nonsense_Mutation_p.Y235*|NF1_uc010csn.1_Nonsense_Mutation_p.Y95*	1,1	1			p.Y235*	NM_001042492	NP_001035957			1,1	NF1_HUMAN	NF1	HGNC	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN		7	1038	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	UPI000012FFAE	235					SNV	NF1,stop_gained,p.Tyr235Ter,ENST00000358273,NM_001042492.2;NF1,stop_gained,p.Tyr235Ter,ENST00000356175,NM_000267.3;NF1,stop_gained,p.Tyr235Ter,ENST00000431387,NM_001128147.2;NF1,stop_gained,p.Tyr269Ter,ENST00000579081,;NF1,3_prime_UTR_variant,,ENST00000495910,;NF1,non_coding_transcript_exon_variant,,ENST00000487476,;NF1,non_coding_transcript_exon_variant,,ENST00000490416,;	uc002hgg.2	c.705C>G	1088/12425	5	4			c.705C>G	D|Mis|N|F|S|O			neurofibroma|glioma	neurofibroma|glioma	17	SNP	c.(703-705)TAC>TAG	21	21			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	Broad	neurofibromin isoform 1			29508778	Neurofibromatosis_type_1	0.313	ENSG00000196712	10168	g.chr17:29508778C>G	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			847			847	138.738814	KEEP	20	24	-1	38	27	20	24	-1	139.152506	38	27	0.426966	1	0	0	0	0	0	1	0	0	--	--	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	0	G			NF1_uc002hge.1_Nonsense_Mutation_p.Y235*|NF1_uc002hgf.1_Nonsense_Mutation_p.Y235*|NF1_uc002hgh.2_Nonsense_Mutation_p.Y235*|NF1_uc010csn.1_Nonsense_Mutation_p.Y95*	257	GBM-41-4097-TP	p.Y235*	C	CAAAACTGTACCAGATCCCAC	NM_001042492	NP_001035957	29508778	P21359	NF1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	7	1038	+	G	G		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	Nonsense_Mutation	235						
NF1	4763		GRCh37	17	29556163	29556163	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000358273.4:c.2530C>T	p.Leu844Phe	p.L844F	ENST00000358273	NM_001042492.2	844	Ctt/Ttt	0																																																																																																																																																																																																																																												
NF1	4763		GRCh37	17	29588751	29588751	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000358273.4:c.4600C>T	p.Arg1534Ter	p.R1534*	ENST00000358273	NM_001042492.2	1534	Cga/Tga	0																																																																																																																																																																																																																																												
NF1	4763		GRCh37	17	29654691	29654691	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000358273.4:c.5443C>T	p.Gln1815Ter	p.Q1815*	ENST00000358273	NM_001042492.2	1815	Cag/Tag	0																																																																																																																																																																																																																																												
NF1	4763		GRCh37	17	29654677	29654678	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000358273.4:c.5430dup	p.Thr1811HisfsTer8	p.T1811Hfs*8	ENST00000358273	NM_001042492.2	1810	ctc/ctCc	0																																																																																																																																																																																																																																												
NF1	4763		GRCh37	17	29556484	29556484	+	splice_donor_variant	Splice_Site	SNP	G	G	A			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000358273.4:c.2850+1G>A		p.X950_splice	ENST00000358273	NM_001042492.2	950		0																																																																																																																																																																																																																																												
NF1	4763		GRCh37	17	29683590	29683590	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000358273.4:c.7729del	p.Tyr2577MetfsTer47	p.Y2577Mfs*47	ENST00000358273	NM_001042492.2	2576	gaT/ga	0																																																																																																																																																																																																																																												
NF1	4763		GRCh37	17	29497003	29497003	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000358273.4:c.574C>T	p.Arg192Ter	p.R192*	ENST00000358273	NM_001042492.2	192	Cga/Tga	0																																																																																																																																																																																																																																												
NFATC2	4773	broad.mit.edu	GRCh37	20	50051820	50051820	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0171-01	TCGA-06-0171-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396009.3:c.1937G>C	p.Arg646Pro	p.R646P	ENST00000396009	NM_001258297.1	646	cGg/cCg	0			1			G	R/P	uc002xwd.2	protein_coding	YES	CCDS13437.1			1937/2778									ovary(2)	2	c.(1936-1938)CGG>CCG			Superfamily_domains:SSF81296,SMART_domains:SM00429,Gene3D:2.60.40.10,Pfam_domain:PF01833,hmmpanther:PTHR12533:SF4,hmmpanther:PTHR12533	nuclear factor of activated T-cells,				ENSP00000379330		10-Aug									COSM3405193,COSM3405194	10-Aug	.		ENST00000396009	Transcript			B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	ENSG00000101096	g.chr20:50051820C>G	7776			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=NFAC2_HUMAN&rb=582&re=675&var=R646P	getma.org/pdb.php?prot=NFAC2_HUMAN&from=582&to=675&var=R646P	getma.org/?cm=var&var=hg19,20,50051820,C,G&fts=all	R646P	--	--	1																																		NFATC2_uc002xwc.2_Missense_Mutation_p.R646P|NFATC2_uc010zyv.1_Missense_Mutation_p.R427P|NFATC2_uc010zyw.1_Missense_Mutation_p.R427P|NFATC2_uc010zyx.1_Missense_Mutation_p.R626P|NFATC2_uc010zyy.1_Missense_Mutation_p.R427P|NFATC2_uc010zyz.1_Missense_Mutation_p.R427P|NFATC2_uc002xwe.2_Missense_Mutation_p.R626P	1,1	1		probably_damaging(0.994)	p.R646P	NM_173091	NP_775114		deleterious(0)	1,1	NFAC2_HUMAN	NFATC2	HGNC	Q13469	NFAC2_HUMAN			B5B2P4_HUMAN,B5B2P3_HUMAN		8	2157	-	Hepatocellular(150;0.248)		UPI0000167D0F	646					SNV	NFATC2,missense_variant,p.Arg646Pro,ENST00000371564,NM_012340.4,NM_001258296.1;NFATC2,missense_variant,p.Arg646Pro,ENST00000396009,NM_001258297.1,NM_173091.3;NFATC2,missense_variant,p.Arg626Pro,ENST00000609943,NM_001258295.1,NM_001258292.1,NM_001136021.2;NFATC2,missense_variant,p.Arg626Pro,ENST00000414705,;NFATC2,missense_variant,p.Arg427Pro,ENST00000610033,;NFATC2,missense_variant,p.Arg427Pro,ENST00000609507,NM_001258294.1;	uc002xwd.2	c.1937G>C	2157/7437	3	3			c.1937G>C						20	SNP	c.(1936-1938)CGG>CCG	57	57			ovary(2)	2	Broad	nuclear factor of activated T-cells,			50051820		0.443	ENSG00000101096	10174	g.chr20:50051820C>G	B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity							-81.20822	KEEP	3	11	-1	213	272	3	11	-1	26.356131	213	272	0.029412	1	0	0	0	0	1	0	0	0	--	--		0	G			NFATC2_uc002xwc.2_Missense_Mutation_p.R646P|NFATC2_uc010zyv.1_Missense_Mutation_p.R427P|NFATC2_uc010zyw.1_Missense_Mutation_p.R427P|NFATC2_uc010zyx.1_Missense_Mutation_p.R626P|NFATC2_uc010zyy.1_Missense_Mutation_p.R427P|NFATC2_uc010zyz.1_Missense_Mutation_p.R427P|NFATC2_uc002xwe.2_Missense_Mutation_p.R626P	35	GBM-06-0171-TP	p.R646P	C	ATGCTTGTTCCGATATTCAGG	NM_173091	NP_775114	50051820	Q13469	NFAC2_HUMAN	0			8	2157	-	G	G	Hepatocellular(150;0.248)		Missense_Mutation	646						
NFATC2	4773	broad.mit.edu	GRCh37	20	50133367	50133367	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396009.3:c.1288C>T	p.Arg430Ter	p.R430*	ENST00000396009	NM_001258297.1	430	Cga/Tga	0			1			A	R/*	uc002xwd.2	protein_coding	YES	CCDS13437.1			1288/2778									ovary(2)	2	c.(1288-1290)CGA>TGA			Superfamily_domains:SSF49417,Gene3D:2.60.40.340,Pfam_domain:PF00554,hmmpanther:PTHR12533:SF4,hmmpanther:PTHR12533,PROSITE_profiles:PS50254	nuclear factor of activated T-cells,				ENSP00000379330		10-Mar									COSM2151842,COSM3405195	10-Mar	.		ENST00000396009	Transcript			B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	ENSG00000101096	g.chr20:50133367G>A	7776			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,20,50133367,G,A&fts=all	R430*	--	--	1																																		NFATC2_uc002xwc.2_Nonsense_Mutation_p.R430*|NFATC2_uc010zyv.1_Nonsense_Mutation_p.R211*|NFATC2_uc010zyw.1_Nonsense_Mutation_p.R211*|NFATC2_uc010zyx.1_Nonsense_Mutation_p.R410*|NFATC2_uc010zyy.1_Nonsense_Mutation_p.R211*|NFATC2_uc010zyz.1_Nonsense_Mutation_p.R211*|NFATC2_uc002xwe.2_Nonsense_Mutation_p.R410*	1,1	1			p.R430*	NM_173091	NP_775114			1,1	NFAC2_HUMAN	NFATC2	HGNC	Q13469	NFAC2_HUMAN			B5B2P4_HUMAN,B5B2P3_HUMAN		3	1508	-	Hepatocellular(150;0.248)		UPI0000167D0F	430			RHD.		SNV	NFATC2,stop_gained,p.Arg430Ter,ENST00000371564,NM_012340.4,NM_001258296.1;NFATC2,stop_gained,p.Arg430Ter,ENST00000396009,NM_001258297.1,NM_173091.3;NFATC2,stop_gained,p.Arg410Ter,ENST00000609943,NM_001258295.1,NM_001258292.1,NM_001136021.2;NFATC2,stop_gained,p.Arg410Ter,ENST00000414705,;NFATC2,stop_gained,p.Arg211Ter,ENST00000610033,;NFATC2,stop_gained,p.Arg211Ter,ENST00000609507,NM_001258294.1;	uc002xwd.2	c.1288C>T	1508/7437	5	1			c.1288C>T						20	SNP	c.(1288-1290)CGA>TGA	64	64			ovary(2)	2	Broad	nuclear factor of activated T-cells,			50133367		0.557	ENSG00000101096	10174	g.chr20:50133367G>A	B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity							95.989549	KEEP	27	20	-1	84	77	27	20	-1	107.140529	84	77	0.226994	1	0	0	0	0	0	1	0	0	--	--		0	A			NFATC2_uc002xwc.2_Nonsense_Mutation_p.R430*|NFATC2_uc010zyv.1_Nonsense_Mutation_p.R211*|NFATC2_uc010zyw.1_Nonsense_Mutation_p.R211*|NFATC2_uc010zyx.1_Nonsense_Mutation_p.R410*|NFATC2_uc010zyy.1_Nonsense_Mutation_p.R211*|NFATC2_uc010zyz.1_Nonsense_Mutation_p.R211*|NFATC2_uc002xwe.2_Nonsense_Mutation_p.R410*	68	GBM-06-0747-TP	p.R430*	G	ACAGCCCCTCGGCTGCCTTCT	NM_173091	NP_775114	50133367	Q13469	NFAC2_HUMAN	0			3	1508	-	A	A	Hepatocellular(150;0.248)		Nonsense_Mutation	430			RHD.			
NFATC2	0	broad.mit.edu	GRCh37	20	50140360	50140360	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2491-01	TCGA-32-2491-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396009.3:c.420G>A	p.Pro140=	p.P140=	ENST00000396009	NM_001258297.1	140	ccG/ccA	0			1			T	P	uc002xwd.2	protein_coding	YES	CCDS13437.1			420/2778									ovary(2)	2	c.(418-420)CCG>CCA			hmmpanther:PTHR12533:SF4,hmmpanther:PTHR12533	nuclear factor of activated T-cells,				ENSP00000379330		10-Feb									COSM3405197,COSM3405198	10-Feb	.		ENST00000396009	Transcript			B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	ENSG00000101096	g.chr20:50140360C>T	7776			LOW								--	--	1																																		NFATC2_uc002xwc.2_Silent_p.P140P|NFATC2_uc010zyv.1_Intron|NFATC2_uc010zyw.1_Intron|NFATC2_uc010zyx.1_Silent_p.P120P|NFATC2_uc010zyy.1_Intron|NFATC2_uc010zyz.1_Intron|NFATC2_uc002xwe.2_Silent_p.P120P	1,1	1			p.P140P	NM_173091	NP_775114			1,1	NFAC2_HUMAN	NFATC2	HGNC	Q13469	NFAC2_HUMAN			B5B2P4_HUMAN,B5B2P3_HUMAN		2	640	-	Hepatocellular(150;0.248)		UPI0000167D0F	140			Trans-activation domain A (TAD-A).		SNV	NFATC2,synonymous_variant,p.=,ENST00000371564,NM_012340.4,NM_001258296.1;NFATC2,synonymous_variant,p.=,ENST00000396009,NM_001258297.1,NM_173091.3;NFATC2,synonymous_variant,p.=,ENST00000609943,NM_001258295.1,NM_001258292.1,NM_001136021.2;NFATC2,synonymous_variant,p.=,ENST00000414705,;NFATC2,intron_variant,,ENST00000610033,;NFATC2,intron_variant,,ENST00000609507,NM_001258294.1;	uc002xwd.2	c.420G>A	640/7437	1	1			c.420G>A						20	SNP	c.(418-420)CCG>CCA	13	13			ovary(2)	2	Broad	nuclear factor of activated T-cells,			50140360		0.721	ENSG00000101096	10174	g.chr20:50140360C>T	B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity							8.690512	KEEP	3	2	-1	5	10	3	2	-1	8.872844	5	10	0.363636	1	0	0	0	0	0	0	1	0	--	--		0	T			NFATC2_uc002xwc.2_Silent_p.P140P|NFATC2_uc010zyv.1_Intron|NFATC2_uc010zyw.1_Intron|NFATC2_uc010zyx.1_Silent_p.P120P|NFATC2_uc010zyy.1_Intron|NFATC2_uc010zyz.1_Intron|NFATC2_uc002xwe.2_Silent_p.P120P	235	GBM-32-2491-TP	p.P140P	C	CGGCCAGGGGCGGCTGCTCCA	NM_173091	NP_775114	50140360	Q13469	NFAC2_HUMAN	0			2	640	-	T	T	Hepatocellular(150;0.248)		Silent	140			Trans-activation domain A (TAD-A).			
NFATC2	0	broad.mit.edu	GRCh37	20	50159018	50159018	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-5651-01	TCGA-41-5651-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396009.3:c.21G>A	p.Gln7=	p.Q7=	ENST00000396009	NM_001258297.1	7	caG/caA	0			1			T	Q	uc002xwd.2	protein_coding	YES	CCDS13437.1			21/2778									ovary(2)	2	c.(19-21)CAG>CAA			hmmpanther:PTHR12533:SF4,hmmpanther:PTHR12533	nuclear factor of activated T-cells,				ENSP00000379330		10-Jan									COSM3405199,COSM3405200	10-Jan	.		ENST00000396009	Transcript			B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	ENSG00000101096	g.chr20:50159018C>T	7776			LOW								--	--	1																																		NFATC2_uc002xwc.2_Silent_p.Q7Q|NFATC2_uc010zyv.1_5'UTR|NFATC2_uc010zyw.1_5'UTR|NFATC2_uc010zyx.1_Intron|NFATC2_uc010zyy.1_Intron|NFATC2_uc010zyz.1_Intron|NFATC2_uc002xwe.2_Intron	1,1	1			p.Q7Q	NM_173091	NP_775114			1,1	NFAC2_HUMAN	NFATC2	HGNC	Q13469	NFAC2_HUMAN			B5B2P4_HUMAN,B5B2P3_HUMAN		1	241	-	Hepatocellular(150;0.248)		UPI0000167D0F	7					SNV	NFATC2,synonymous_variant,p.=,ENST00000371564,NM_012340.4,NM_001258296.1;NFATC2,synonymous_variant,p.=,ENST00000396009,NM_001258297.1,NM_173091.3;NFATC2,5_prime_UTR_variant,,ENST00000610033,;NFATC2,intron_variant,,ENST00000609943,NM_001258295.1,NM_001258292.1,NM_001136021.2;NFATC2,intron_variant,,ENST00000414705,;NFATC2,intron_variant,,ENST00000609507,NM_001258294.1;	uc002xwd.2	c.21G>A	241/7437	1	1			c.21G>A						20	SNP	c.(19-21)CAG>CAA	4	4			ovary(2)	2	Broad	nuclear factor of activated T-cells,			50159018		0.582	ENSG00000101096	10174	g.chr20:50159018C>T	B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity							10.992069	KEEP	2	5	-1	10	9	2	5	-1	11.901138	10	9	0.25	1	0	0	0	0	0	0	1	0	--	--		0	T			NFATC2_uc002xwc.2_Silent_p.Q7Q|NFATC2_uc010zyv.1_5'UTR|NFATC2_uc010zyw.1_5'UTR|NFATC2_uc010zyx.1_Intron|NFATC2_uc010zyy.1_Intron|NFATC2_uc010zyz.1_Intron|NFATC2_uc002xwe.2_Intron	258	GBM-41-5651-TP	p.Q7Q	C	CGGGTTGGGGCTGCCGCTCGG	NM_173091	NP_775114	50159018	Q13469	NFAC2_HUMAN	0			1	241	-	T	T	Hepatocellular(150;0.248)		Silent	7						
NFATC2	4773		GRCh37	20	50139989	50139989	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000396009.3:c.791C>T	p.Pro264Leu	p.P264L	ENST00000396009	NM_001258297.1	264	cCg/cTg	0																																																																																																																																																																																																																																												
NFATC4	4776	broad.mit.edu	GRCh37	14	24838971	24838971	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01	TCGA-06-2570-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000413692.2:c.556C>T	p.Pro186Ser	p.P186S	ENST00000413692	NM_001198967.1	186	Ccc/Tcc	0			1			T	P/S	uc001wpc.2	protein_coding		CCDS9629.1			367/2709									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(367-369)CCC>TCC			hmmpanther:PTHR12533,hmmpanther:PTHR12533:SF9	nuclear factor of activated T-cells,				ENSP00000250373		10-Feb									COSM3401265,COSM3401264,COSM3401266	10-Feb	.		ENST00000250373	Transcript			cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	ENSG00000100968	g.chr14:24838971C>T	7778			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=NFAC4_HUMAN&rb=1&re=200&var=P123S	NA	getma.org/?cm=var&var=hg19,14,24838971,C,T&fts=all	P123S	--	--	1																																		NFATC4_uc010tok.1_Missense_Mutation_p.P186S|NFATC4_uc010tol.1_Missense_Mutation_p.P186S|NFATC4_uc010alr.2_Missense_Mutation_p.P186S|NFATC4_uc010als.2_Missense_Mutation_p.P136S|NFATC4_uc010tom.1_Missense_Mutation_p.P136S|NFATC4_uc010ton.1_Missense_Mutation_p.P136S|NFATC4_uc010too.1_Missense_Mutation_p.P136S|NFATC4_uc010alt.2_Missense_Mutation_p.P155S|NFATC4_uc010top.1_Missense_Mutation_p.P155S|NFATC4_uc010toq.1_Missense_Mutation_p.P155S|NFATC4_uc010alu.2_Intron|NFATC4_uc010tor.1_Missense_Mutation_p.P123S|NFATC4_uc010tos.1_Missense_Mutation_p.P53S|NFATC4_uc010tot.1_Missense_Mutation_p.P111S|NFATC4_uc010tou.1_Missense_Mutation_p.P53S|NFATC4_uc010tov.1_Missense_Mutation_p.P111S|NFATC4_uc010tow.1_Missense_Mutation_p.P53S|NFATC4_uc010alv.2_Missense_Mutation_p.P111S|NFATC4_uc010tox.1_Missense_Mutation_p.P53S	1,1,1			probably_damaging(0.915)	p.P123S	NM_004554	NP_004545		deleterious(0.01)	1,1,1	NFAC4_HUMAN	NFATC4	HGNC	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	G3V4K1_HUMAN		2	688	+			UPI000013CCB1	123			Pro-rich.		SNV	NFATC4,missense_variant,p.Pro186Ser,ENST00000413692,NM_001198967.1,NM_001136022.1;NFATC4,missense_variant,p.Pro155Ser,ENST00000539237,;NFATC4,missense_variant,p.Pro53Ser,ENST00000557451,;NFATC4,missense_variant,p.Pro111Ser,ENST00000422617,NM_001288802.1;NFATC4,missense_variant,p.Pro136Ser,ENST00000424781,;NFATC4,missense_variant,p.Pro123Ser,ENST00000553708,;NFATC4,missense_variant,p.Pro123Ser,ENST00000250373,NM_004554.4;NFATC4,missense_variant,p.Pro111Ser,ENST00000555453,;NFATC4,missense_variant,p.Pro123Ser,ENST00000554050,NM_001198965.1;NFATC4,missense_variant,p.Pro53Ser,ENST00000554344,;NFATC4,missense_variant,p.Pro155Ser,ENST00000556279,;NFATC4,missense_variant,p.Pro186Ser,ENST00000554591,;NFATC4,missense_variant,p.Pro136Ser,ENST00000555590,;NFATC4,missense_variant,p.Pro53Ser,ENST00000553879,NM_001198966.1;NFATC4,missense_variant,p.Pro53Ser,ENST00000554661,;NFATC4,missense_variant,p.Pro155Ser,ENST00000553469,;NFATC4,missense_variant,p.Pro111Ser,ENST00000556169,;NFATC4,missense_variant,p.Pro136Ser,ENST00000554966,;NFATC4,missense_variant,p.Pro100Ser,ENST00000557674,;NFATC4,missense_variant,p.Pro123Ser,ENST00000554903,;NFATC4,intron_variant,,ENST00000554779,;NFATC4,upstream_gene_variant,,ENST00000555167,;NFATC4,upstream_gene_variant,,ENST00000555393,;NFATC4,upstream_gene_variant,,ENST00000556759,;NFATC4,upstream_gene_variant,,ENST00000555802,;NFATC4,upstream_gene_variant,,ENST00000554473,;NFATC4,upstream_gene_variant,,ENST00000557767,;NFATC4,non_coding_transcript_exon_variant,,ENST00000440487,;NFATC4,non_coding_transcript_exon_variant,,ENST00000554655,;NFATC4,non_coding_transcript_exon_variant,,ENST00000556302,;NFATC4,non_coding_transcript_exon_variant,,ENST00000556957,;NFATC4,intron_variant,,ENST00000557028,;	uc001wpc.2	c.367C>T	508/4749	2	2			c.367C>T						14	SNP	c.(367-369)CCC>TCC	32	32			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	nuclear factor of activated T-cells,			24838971		0.577	ENSG00000100968	10177	g.chr14:24838971C>T	cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity							21.044702	KEEP	4	5	-1	4	5	4	5	-1	21.044702	4	5	0.5	1	0	0	0	0	1	0	0	0	--	--		0	T			NFATC4_uc010tok.1_Missense_Mutation_p.P186S|NFATC4_uc010tol.1_Missense_Mutation_p.P186S|NFATC4_uc010alr.2_Missense_Mutation_p.P186S|NFATC4_uc010als.2_Missense_Mutation_p.P136S|NFATC4_uc010tom.1_Missense_Mutation_p.P136S|NFATC4_uc010ton.1_Missense_Mutation_p.P136S|NFATC4_uc010too.1_Missense_Mutation_p.P136S|NFATC4_uc010alt.2_Missense_Mutation_p.P155S|NFATC4_uc010top.1_Missense_Mutation_p.P155S|NFATC4_uc010toq.1_Missense_Mutation_p.P155S|NFATC4_uc010alu.2_Intron|NFATC4_uc010tor.1_Missense_Mutation_p.P123S|NFATC4_uc010tos.1_Missense_Mutation_p.P53S|NFATC4_uc010tot.1_Missense_Mutation_p.P111S|NFATC4_uc010tou.1_Missense_Mutation_p.P53S|NFATC4_uc010tov.1_Missense_Mutation_p.P111S|NFATC4_uc010tow.1_Missense_Mutation_p.P53S|NFATC4_uc010alv.2_Missense_Mutation_p.P111S|NFATC4_uc010tox.1_Missense_Mutation_p.P53S	91	GBM-06-2570-TP	p.P123S	C	CTCCATCTCTCCCACGCCGGA	NM_004554	NP_004545	24838971	Q14934	NFAC4_HUMAN	0		GBM - Glioblastoma multiforme(265;0.018)	2	688	+	T	T			Missense_Mutation	123			Pro-rich.			
NFATC4	0	broad.mit.edu	GRCh37	14	24845826	24845826	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01	TCGA-19-5958-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000250373.4:c.2383C>T	p.Arg795Trp	p.R795W	ENST00000250373	NM_004554.4	795	Cgg/Tgg	0			1			T	R/W	uc001wpc.2	protein_coding		CCDS9629.1			2383/2709									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(2383-2385)CGG>TGG			Low_complexity_(Seg):seg,hmmpanther:PTHR12533,hmmpanther:PTHR12533:SF9	nuclear factor of activated T-cells,				ENSP00000250373		10-Sep									COSM2033427,COSM2033426,COSM3401267	10-Sep	.		ENST00000250373	Transcript			cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	ENSG00000100968	g.chr14:24845826C>T	7778			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=NFAC4_HUMAN&rb=684&re=883&var=R795W	NA	getma.org/?cm=var&var=hg19,14,24845826,C,T&fts=all	R795W	--	--	1																																		NFATC4_uc010tok.1_Missense_Mutation_p.R858W|NFATC4_uc010tol.1_Missense_Mutation_p.R858W|NFATC4_uc010alr.2_Intron|NFATC4_uc010tom.1_Missense_Mutation_p.R808W|NFATC4_uc010ton.1_Missense_Mutation_p.R808W|NFATC4_uc010too.1_Intron|NFATC4_uc010alt.2_Missense_Mutation_p.R827W|NFATC4_uc010top.1_Missense_Mutation_p.R827W|NFATC4_uc010toq.1_Intron|NFATC4_uc010tor.1_Intron|NFATC4_uc010tos.1_Missense_Mutation_p.R725W|NFATC4_uc010tot.1_Missense_Mutation_p.R783W|NFATC4_uc010tou.1_Missense_Mutation_p.R725W|NFATC4_uc010tov.1_Intron|NFATC4_uc010tow.1_Intron|NFATC4_uc010alv.2_Missense_Mutation_p.R783W|NFATC4_uc010tox.1_Missense_Mutation_p.R725W|NFATC4_uc001wpd.2_Missense_Mutation_p.R330W|NFATC4_uc010toy.1_Intron|NFATC4_uc010toz.1_Missense_Mutation_p.R330W|NFATC4_uc010tpa.1_Missense_Mutation_p.R83W|NFATC4_uc010tpb.1_Missense_Mutation_p.R83W	1,1,1			benign(0.116)	p.R795W	NM_004554	NP_004545		deleterious_low_confidence(0.03)	1,1,1	NFAC4_HUMAN	NFATC4	HGNC	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	G3V4K1_HUMAN		9	2704	+			UPI000013CCB1	795			Pro-rich.		SNV	NFATC4,missense_variant,p.Arg858Trp,ENST00000413692,NM_001198967.1,NM_001136022.1;NFATC4,missense_variant,p.Arg827Trp,ENST00000539237,;NFATC4,missense_variant,p.Arg725Trp,ENST00000557451,;NFATC4,missense_variant,p.Arg783Trp,ENST00000422617,NM_001288802.1;NFATC4,missense_variant,p.Arg808Trp,ENST00000424781,;NFATC4,missense_variant,p.Arg795Trp,ENST00000553708,;NFATC4,missense_variant,p.Arg795Trp,ENST00000250373,NM_004554.4;NFATC4,missense_variant,p.Arg330Trp,ENST00000555167,;NFATC4,missense_variant,p.Arg783Trp,ENST00000555453,;NFATC4,missense_variant,p.Arg725Trp,ENST00000554344,;NFATC4,missense_variant,p.Arg827Trp,ENST00000556279,;NFATC4,missense_variant,p.Arg808Trp,ENST00000555590,;NFATC4,missense_variant,p.Arg725Trp,ENST00000553879,NM_001198966.1;NFATC4,missense_variant,p.Arg83Trp,ENST00000555393,;NFATC4,missense_variant,p.Arg330Trp,ENST00000556759,;NFATC4,missense_variant,p.Arg83Trp,ENST00000555802,;NFATC4,intron_variant,,ENST00000554050,NM_001198965.1;NFATC4,intron_variant,,ENST00000554591,;NFATC4,intron_variant,,ENST00000554661,;NFATC4,intron_variant,,ENST00000553469,;NFATC4,intron_variant,,ENST00000556169,;NFATC4,intron_variant,,ENST00000554966,;NFATC4,intron_variant,,ENST00000554473,;NFATC4,intron_variant,,ENST00000557767,;NFATC4,downstream_gene_variant,,ENST00000554779,;NFATC4,intron_variant,,ENST00000555821,;NFATC4,downstream_gene_variant,,ENST00000440487,;NFATC4,non_coding_transcript_exon_variant,,ENST00000554655,;NFATC4,downstream_gene_variant,,ENST00000556302,;NFATC4,downstream_gene_variant,,ENST00000556957,;NFATC4,downstream_gene_variant,,ENST00000557028,;	uc001wpc.2	c.2383C>T	2524/4749	2	2			c.2383C>T						14	SNP	c.(2383-2385)CGG>TGG	20	20			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	nuclear factor of activated T-cells,			24845826		0.642	ENSG00000100968	10177	g.chr14:24845826C>T	cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity							108.682701	KEEP	18	28	-1	38	34	18	28	-1	110.041863	38	34	0.381818	1	0	0	0	0	1	0	0	0	--	--		0	T			NFATC4_uc010tok.1_Missense_Mutation_p.R858W|NFATC4_uc010tol.1_Missense_Mutation_p.R858W|NFATC4_uc010alr.2_Intron|NFATC4_uc010tom.1_Missense_Mutation_p.R808W|NFATC4_uc010ton.1_Missense_Mutation_p.R808W|NFATC4_uc010too.1_Intron|NFATC4_uc010alt.2_Missense_Mutation_p.R827W|NFATC4_uc010top.1_Missense_Mutation_p.R827W|NFATC4_uc010toq.1_Intron|NFATC4_uc010tor.1_Intron|NFATC4_uc010tos.1_Missense_Mutation_p.R725W|NFATC4_uc010tot.1_Missense_Mutation_p.R783W|NFATC4_uc010tou.1_Missense_Mutation_p.R725W|NFATC4_uc010tov.1_Intron|NFATC4_uc010tow.1_Intron|NFATC4_uc010alv.2_Missense_Mutation_p.R783W|NFATC4_uc010tox.1_Missense_Mutation_p.R725W|NFATC4_uc001wpd.2_Missense_Mutation_p.R330W|NFATC4_uc010toy.1_Intron|NFATC4_uc010toz.1_Missense_Mutation_p.R330W|NFATC4_uc010tpa.1_Missense_Mutation_p.R83W|NFATC4_uc010tpb.1_Missense_Mutation_p.R83W	176	GBM-19-5958-TP	p.R795W	C	GTATGGAGGGCGGGGCTCCTC	NM_004554	NP_004545	24845826	Q14934	NFAC4_HUMAN	0		GBM - Glioblastoma multiforme(265;0.018)	9	2704	+	T	T			Missense_Mutation	795			Pro-rich.			
NFE2	4778		GRCh37	12	54686313	54686313	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000540264.2:c.967C>T	p.Arg323Cys	p.R323C	ENST00000540264		323	Cgc/Tgc	0																																																																																																																																																																																																																																												
NFE2L3	9603	broad.mit.edu	GRCh37	7	26225102	26225102	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01	TCGA-02-0055-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000056233.3:c.1784G>A	p.Cys595Tyr	p.C595Y	ENST00000056233	NM_004289.6	595	tGt/tAt	0			1			A	C/Y	uc003sxq.2	protein_coding	YES	CCDS5396.1			1784/2085									skin(3)|ovary(1)	4	c.(1783-1785)TGT>TAT			Gene3D:1.10.880.10,Pfam_domain:PF03131,PROSITE_patterns:PS00036,PROSITE_profiles:PS50217,hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF8,SMART_domains:SM00338,Superfamily_domains:SSF47454,Superfamily_domains:SSF57959	nuclear factor erythroid 2-like 3				ENSP00000056233		4-Apr									COSM485232	4-Apr	.		ENST00000056233	Transcript			transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	ENSG00000050344	g.chr7:26225102G>A	7783			MODERATE		3.37	medium	getma.org/?cm=msa&ty=f&p=NF2L3_HUMAN&rb=577&re=639&var=C595Y	getma.org/pdb.php?prot=NF2L3_HUMAN&from=577&to=639&var=C595Y	getma.org/?cm=var&var=hg19,7,26225102,G,A&fts=all	C595Y	--	--	1																																			1	1		benign(0.29)	p.C595Y	NM_004289	NP_004280		deleterious(0.01)	1	NF2L3_HUMAN	NFE2L3	HGNC	Q9Y4A8	NF2L3_HUMAN					4	2056	+			UPI000007206C	595			Basic motif.		SNV	NFE2L3,missense_variant,p.Cys595Tyr,ENST00000056233,NM_004289.6;HNRNPA2B1,downstream_gene_variant,,ENST00000354667,NM_031243.2;NFE2L3,downstream_gene_variant,,ENST00000607375,;HNRNPA2B1,downstream_gene_variant,,ENST00000476233,;NFE2L3,non_coding_transcript_exon_variant,,ENST00000606261,;HNRNPA2B1,downstream_gene_variant,,ENST00000463181,;HNRNPA2B1,downstream_gene_variant,,ENST00000360787,;	uc003sxq.2	c.1784G>A	2043/3686	1	1			c.1784G>A						7	SNP	c.(1783-1785)TGT>TAT	56	56			skin(3)|ovary(1)	4	Broad	nuclear factor erythroid 2-like 3			26225102		0.368	ENSG00000050344	10181	g.chr7:26225102G>A	transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity							-24.207176	KEEP	2	2	-1	67	60	2	2	-1	6.87594	67	60	0.031008	1	0	0	0	0	1	0	0	0	--	--		0	A				4	GBM-02-0055-TP	p.C595Y	G	GCGCAGAACTGTCGTAAACGC	NM_004289	NP_004280	26225102	Q9Y4A8	NF2L3_HUMAN	0			4	2056	+	A	A			Missense_Mutation	595			Basic motif.			
NFIA	4774	broad.mit.edu	GRCh37	1	61869812	61869812	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01	TCGA-06-0939-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371189.4:c.1247C>T	p.Pro416Leu	p.P416L	ENST00000371189	NM_001145512.1	416	cCg/cTg	0			1			T	P/L	uc001czw.2	protein_coding		CCDS44156.1			1112/1530									pancreas(1)|skin(1)	2	c.(1111-1113)CCG>CTG			Pfam_domain:PF00859,hmmpanther:PTHR11492	nuclear factor I/A isoform 1				ENSP00000384523		11-Aug									COSM3400930,COSM3400929,COSM3400931	11-Aug	.		ENST00000403491	Transcript	1		DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	ENSG00000162599	g.chr1:61869812C>T	7784			MODERATE		2.605	medium	getma.org/?cm=msa&ty=f&p=NFIA_HUMAN&rb=214&re=509&var=P371L	NA	getma.org/?cm=var&var=hg19,1,61869812,C,T&fts=all	P371L	--	--	1																																		NFIA_uc001czy.2_Missense_Mutation_p.P363L|NFIA_uc010oos.1_Missense_Mutation_p.P416L|NFIA_uc001czv.2_Missense_Mutation_p.P371L|NFIA_uc001czx.2_Missense_Mutation_p.P19L|NFIA_uc009wae.2_5'Flank	1,1,1			possibly_damaging(0.548)	p.P371L	NM_001134673	NP_001128145		deleterious(0)	1,1,1	NFIA_HUMAN	NFIA	HGNC	Q12857	NFIA_HUMAN			S4R3K4_HUMAN		8	1596	+			UPI000003B474	371					SNV	NFIA,missense_variant,p.Pro371Leu,ENST00000403491,NM_001134673.3,NM_005595.4;NFIA,missense_variant,p.Pro19Leu,ENST00000357977,;NFIA,missense_variant,p.Pro371Leu,ENST00000371187,;NFIA,missense_variant,p.Pro363Leu,ENST00000407417,NM_001145511.1;NFIA,missense_variant,p.Pro416Leu,ENST00000371189,NM_001145512.1;NFIA,missense_variant,p.Pro394Leu,ENST00000371191,;NFIA,missense_variant,p.Pro349Leu,ENST00000371185,;NFIA,missense_variant,p.Pro328Leu,ENST00000485903,;NFIA,missense_variant,p.Pro242Leu,ENST00000371184,;NFIA,missense_variant,p.Pro156Leu,ENST00000482020,;NFIA,upstream_gene_variant,,ENST00000493627,;NFIA,non_coding_transcript_exon_variant,,ENST00000479364,;	uc001czw.2	c.1112C>T	1596/9487	1	1			c.1112C>T						1	SNP	c.(1111-1113)CCG>CTG	1	1			pancreas(1)|skin(1)	2	Broad	nuclear factor I/A isoform 1			61869812		0.493	ENSG00000162599	10182	g.chr1:61869812C>T	DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			682			682	136.682989	KEEP	35	36	-1	142	163	35	36	-1	162.789021	142	163	0.195364	1	0	0	0	0	1	0	0	0	--	--		0	T			NFIA_uc001czy.2_Missense_Mutation_p.P363L|NFIA_uc010oos.1_Missense_Mutation_p.P416L|NFIA_uc001czv.2_Missense_Mutation_p.P371L|NFIA_uc001czx.2_Missense_Mutation_p.P19L|NFIA_uc009wae.2_5'Flank	78	GBM-06-0939-TP	p.P371L	C	CTTCATTTCCCGACATCACCC	NM_001134673	NP_001128145	61869812	Q12857	NFIA_HUMAN	0			8	1596	+	T	T			Missense_Mutation	371						
NFIB	4781	broad.mit.edu	GRCh37	9	14307244	14307244	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0216-01	TCGA-06-0216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380953.1:c.306G>A	p.Pro102=	p.P102=	ENST00000380953	NM_001190737.1	102	ccG/ccA	0			1			T	P	uc003zle.2	protein_coding		CCDS6474.1			306/1263	T		MYB|HGMA2		adenoid cystic carcinoma|lipoma					0	c.(304-306)CCG>CCA			PROSITE_profiles:PS51080,hmmpanther:PTHR11492,Pfam_domain:PF03165,SMART_domains:SM00523	nuclear factor I/B				ENSP00000370346		9-Feb	1.65E-05			0.000116		1.50E-05			rs772662135,COSM3413512,COSM3413513	9-Feb	.		ENST00000380959	Transcript			anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	ENSG00000147862	g.chr9:14307244C>T	7785			LOW								--	--	1																																		NFIB_uc003zlf.2_Silent_p.P102P|NFIB_uc011lmo.1_Silent_p.P102P	0,1,1				p.P102P	NM_005596	NP_005587			0,1,1	NFIB_HUMAN	NFIB	HGNC	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	Q5VW31_HUMAN,Q5VW28_HUMAN		2	741	-			UPI0000071C33	102			CTF/NF-I.		SNV	NFIB,synonymous_variant,p.=,ENST00000380959,NM_005596.3;NFIB,synonymous_variant,p.=,ENST00000380934,NM_001190738.1;NFIB,synonymous_variant,p.=,ENST00000397581,;NFIB,synonymous_variant,p.=,ENST00000397579,;NFIB,synonymous_variant,p.=,ENST00000397575,;NFIB,synonymous_variant,p.=,ENST00000380953,NM_001190737.1;NFIB,synonymous_variant,p.=,ENST00000380921,;NFIB,synonymous_variant,p.=,ENST00000493697,;NFIB,downstream_gene_variant,,ENST00000606230,;	uc003zle.2	c.306G>A	780/8198	1	1			c.306G>A	T		MYB|HGMA2		adenoid cystic carcinoma|lipoma	9	SNP	c.(304-306)CCG>CCA	6	6				0	Broad	nuclear factor I/B			14307244		0.527	ENSG00000147862	10183	g.chr9:14307244C>T	anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	Esophageal Squamous(132;921 1730 14828 40753 46471)			Esophageal Squamous(132;921 1730 14828 40753 46471)			194.963619	KEEP	40	33	-1	55	27	40	33	-1	195.183699	55	27	0.457746	1	0	0	0	0	0	0	1	0	--	--		0	T			NFIB_uc003zlf.2_Silent_p.P102P|NFIB_uc011lmo.1_Silent_p.P102P	51	GBM-06-0216-TP	p.P102P	C	AGACACAGCACGGGTGCTTCT	NM_005596	NP_005587	14307244	O00712	NFIB_HUMAN	0		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	2	741	-	T	T			Silent	102			CTF/NF-I.			
NFIB	0	broad.mit.edu	GRCh37	9	14307176	14307176	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6192-01	TCGA-76-6192-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380959.3:c.374A>G	p.Asp125Gly	p.D125G	ENST00000380959	NM_005596.3	125	gAc/gGc	0			1			C	D/G	uc003zle.2	protein_coding		CCDS6474.1			374/1263	T		MYB|HGMA2		adenoid cystic carcinoma|lipoma					0	c.(373-375)GAC>GGC			PROSITE_profiles:PS51080,hmmpanther:PTHR11492,Pfam_domain:PF03165,SMART_domains:SM00523	nuclear factor I/B				ENSP00000370346		9-Feb									COSM3413510,COSM3413511	9-Feb	.		ENST00000380959	Transcript			anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	ENSG00000147862	g.chr9:14307176T>C	7785			MODERATE		2.56	medium	getma.org/?cm=msa&ty=f&p=NFIB_HUMAN&rb=69&re=173&var=D125G	NA	getma.org/?cm=var&var=hg19,9,14307176,T,C&fts=all	D125G	--	--	1																																		NFIB_uc003zlf.2_Missense_Mutation_p.D125G|NFIB_uc011lmo.1_Missense_Mutation_p.D125G	1,1			probably_damaging(0.997)	p.D125G	NM_005596	NP_005587		deleterious(0)	1,1	NFIB_HUMAN	NFIB	HGNC	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	Q5VW31_HUMAN,Q5VW28_HUMAN		2	809	-			UPI0000071C33	125			CTF/NF-I.		SNV	NFIB,missense_variant,p.Asp125Gly,ENST00000380959,NM_005596.3;NFIB,missense_variant,p.Asp151Gly,ENST00000380934,NM_001190738.1;NFIB,missense_variant,p.Asp125Gly,ENST00000397581,;NFIB,missense_variant,p.Asp125Gly,ENST00000397579,;NFIB,missense_variant,p.Asp125Gly,ENST00000397575,;NFIB,missense_variant,p.Asp125Gly,ENST00000380953,NM_001190737.1;NFIB,missense_variant,p.Asp125Gly,ENST00000380921,;NFIB,missense_variant,p.Asp120Gly,ENST00000493697,;NFIB,downstream_gene_variant,,ENST00000606230,;	uc003zle.2	c.374A>G	848/8198	3	3			c.374A>G	T		MYB|HGMA2		adenoid cystic carcinoma|lipoma	9	SNP	c.(373-375)GAC>GGC	15	15				0	Broad	nuclear factor I/B			14307176		0.522	ENSG00000147862	10183	g.chr9:14307176T>C	anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	Esophageal Squamous(132;921 1730 14828 40753 46471)			Esophageal Squamous(132;921 1730 14828 40753 46471)			111.356827	KEEP	20	17	-1	21	42	20	17	-1	112.7615	21	42	0.366667	1	0	0	0	0	1	0	0	0	--	--		0	C			NFIB_uc003zlf.2_Missense_Mutation_p.D125G|NFIB_uc011lmo.1_Missense_Mutation_p.D125G	275	GBM-76-6192-TP	p.D125G	T	CCAGACTTTGTCTGCCTGTCG	NM_005596	NP_005587	14307176	O00712	NFIB_HUMAN	0		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	2	809	-	C	C			Missense_Mutation	125			CTF/NF-I.			
NFIB	4781		GRCh37	9	14150145	14150145	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0151-01	TCGA-06-0151-01																				ENST00000380953.1:c.805A>G	p.Ser269Gly	p.S269G	ENST00000380953	NM_001190737.1	269	Agc/Ggc	0																																																																																																																																																																																																																																												
NFIC	0	broad.mit.edu	GRCh37	19	3449019	3449019	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0787-01	TCGA-14-0787-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000443272.2:c.966G>A	p.Ser322=	p.S322=	ENST00000443272	NM_001245002.1	322	tcG/tcA	0			1			A	S	uc010xhi.1	protein_coding	YES	CCDS59330.1			966/1527										0	c.(964-966)TCG>TCA			hmmpanther:PTHR11492,Pfam_domain:PF00859	nuclear factor I/C isoform 2				ENSP00000396843		11-Jul	3.29E-05			0.000116		3.03E-05		6.34E-05	rs745783582,COSM3404093	11-Jul	.		ENST00000443272	Transcript			DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000141905	g.chr19:3449019G>A	7786			LOW								--	--	1																																		NFIC_uc002lxo.2_Silent_p.S313S|NFIC_uc010xhh.1_Silent_p.S313S|NFIC_uc002lxp.2_Silent_p.S322S|NFIC_uc010xhj.1_Silent_p.S322S	0,1	1			p.S322S	NM_205843	NP_995315			0,1	NFIC_HUMAN	NFIC	HGNC	P08651	NFIC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)			7	1028	+		Hepatocellular(1079;0.137)	UPI000012FFC8	322					SNV	NFIC,synonymous_variant,p.=,ENST00000589123,NM_205843.2,NM_001245005.1;NFIC,synonymous_variant,p.=,ENST00000346156,;NFIC,synonymous_variant,p.=,ENST00000395111,;NFIC,synonymous_variant,p.=,ENST00000443272,NM_001245002.1;NFIC,synonymous_variant,p.=,ENST00000341919,NM_005597.3;NFIC,synonymous_variant,p.=,ENST00000590282,NM_001245004.1;NFIC,synonymous_variant,p.=,ENST00000586919,;NFIC,upstream_gene_variant,,ENST00000589164,;NFIC,non_coding_transcript_exon_variant,,ENST00000589537,;NFIC,upstream_gene_variant,,ENST00000589969,;	uc010xhi.1	c.966G>A	1017/1716	1	1			c.966G>A						19	SNP	c.(964-966)TCG>TCA	50	50				0	Broad	nuclear factor I/C isoform 2			3449019		0.632	ENSG00000141905	10184	g.chr19:3449019G>A	DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity							70.932747	KEEP	23	22	-1	115	128	23	22	-1	94.322931	115	128	0.166667	1	0	0	0	0	0	0	1	0	--	--		0	A			NFIC_uc002lxo.2_Silent_p.S313S|NFIC_uc010xhh.1_Silent_p.S313S|NFIC_uc002lxp.2_Silent_p.S322S|NFIC_uc010xhj.1_Silent_p.S322S	135	GBM-14-0787-TP	p.S322S	G	CAGGCATCTCGTCCCCGGTGA	NM_205843	NP_995315	3449019	P08651	NFIC_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)	7	1028	+	A	A		Hepatocellular(1079;0.137)	Silent	322						
NFIX	4784	broad.mit.edu	GRCh37	19	13192662	13192662	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-02-2470-01	TCGA-02-2470-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397661.2:c.1248del	p.Gly417AspfsTer47	p.G417Dfs*47	ENST00000397661	NM_002501.2	416	aCc/ac	0			1			-	T/X	uc010xmx.1	protein_coding					1247/1509									breast(1)|skin(1)	2	c.(1270-1272)ACCfs			hmmpanther:PTHR11492:SF3,hmmpanther:PTHR11492,Pfam_domain:PF00859	RecName: Full=Nuclear factor 1;				ENSP00000467512		11-Aug										11-Aug	.		ENST00000592199	Transcript	1		DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	ENSG00000008441	g.chr19:13192662delC	7788	1		HIGH								--	--	1																																OREG0025286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NFIX_uc002mwd.2_Frame_Shift_Del_p.T416fs|NFIX_uc002mwe.2_Frame_Shift_Del_p.T408fs|NFIX_uc002mwf.2_Frame_Shift_Del_p.T378fs|NFIX_uc002mwg.1_Frame_Shift_Del_p.T415fs					p.T424fs						NFIX_HUMAN	NFIX	HGNC	Q14938	NFIX_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)		K7ESG9_HUMAN,K7EN08_HUMAN,K7EKH0_HUMAN		8	1324	+			UPI000012FFCC	416					deletion	NFIX,frameshift_variant,p.Gly375AspfsTer46,ENST00000358552,;NFIX,frameshift_variant,p.Gly379AspfsTer47,ENST00000360105,;NFIX,frameshift_variant,p.Gly417AspfsTer47,ENST00000397661,NM_002501.2;NFIX,frameshift_variant,p.Gly370AspfsTer46,ENST00000588228,NM_001271043.1;NFIX,frameshift_variant,p.Gly416AspfsTer47,ENST00000587260,;NFIX,frameshift_variant,p.Gly417AspfsTer46,ENST00000592199,;NFIX,frameshift_variant,p.Gly409AspfsTer47,ENST00000587760,NM_001271044.1;NFIX,frameshift_variant,p.Gly409AspfsTer46,ENST00000585575,;NFIX,3_prime_UTR_variant,,ENST00000586797,;NFIX,downstream_gene_variant,,ENST00000585382,;	uc010xmx.1	c.1271delC	1247/1509	5	5			c.1271delC						19	DEL	c.(1270-1272)ACCfs	2	2			breast(1)|skin(1)	2	Broad	RecName: Full=Nuclear factor 1;			13192662		0.612	ENSG00000008441	10186	g.chr19:13192662delC	DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity																				0.44	1	1	0	1	0	0	0	0	0	--	--		0	-	OREG0025286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NFIX_uc002mwd.2_Frame_Shift_Del_p.T416fs|NFIX_uc002mwe.2_Frame_Shift_Del_p.T408fs|NFIX_uc002mwf.2_Frame_Shift_Del_p.T378fs|NFIX_uc002mwg.1_Frame_Shift_Del_p.T415fs	5	GBM-02-2470-TP	p.T424fs	C	GGCCAGGCCACCGGACAGGTG			13192662	Q14938	NFIX_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)		8	1324	+	-	-			Frame_Shift_Del	416						
NFIX	4784	broad.mit.edu	GRCh37	19	13184252	13184252	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0195-01	TCGA-06-0195-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397661.2:c.639G>A	p.Gln213=	p.Q213=	ENST00000397661	NM_002501.2	213	caG/caA	0			1			A	Q	uc010xmx.1	protein_coding					639/1509									breast(1)|skin(1)	2	c.(661-663)CAG>CAA			hmmpanther:PTHR11492:SF3,hmmpanther:PTHR11492,Pfam_domain:PF00859	RecName: Full=Nuclear factor 1;				ENSP00000467512		11-Apr									COSM3403801,COSM3403799,COSM3403800	11-Apr	.		ENST00000592199	Transcript	1		DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	ENSG00000008441	g.chr19:13184252G>A	7788			LOW								--	--	1																																		NFIX_uc002mwd.2_Silent_p.Q213Q|NFIX_uc002mwe.2_Silent_p.Q205Q|NFIX_uc002mwf.2_Silent_p.Q216Q|NFIX_uc002mwg.1_Silent_p.Q212Q	1,1,1				p.Q221Q					1,1,1	NFIX_HUMAN	NFIX	HGNC	Q14938	NFIX_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)		K7ESG9_HUMAN,K7EN08_HUMAN,K7EKH0_HUMAN		4	716	+			UPI000012FFCC	213					SNV	NFIX,synonymous_variant,p.=,ENST00000358552,;NFIX,synonymous_variant,p.=,ENST00000360105,;NFIX,synonymous_variant,p.=,ENST00000397661,NM_002501.2;NFIX,synonymous_variant,p.=,ENST00000588228,NM_001271043.1;NFIX,synonymous_variant,p.=,ENST00000587260,;NFIX,synonymous_variant,p.=,ENST00000592199,;NFIX,synonymous_variant,p.=,ENST00000587760,NM_001271044.1;NFIX,synonymous_variant,p.=,ENST00000585575,;AC007787.2,upstream_gene_variant,,ENST00000588095,;NFIX,non_coding_transcript_exon_variant,,ENST00000588680,;NFIX,3_prime_UTR_variant,,ENST00000586797,;NFIX,3_prime_UTR_variant,,ENST00000585382,;	uc010xmx.1	c.663G>A	639/1509	2	2			c.663G>A						19	SNP	c.(661-663)CAG>CAA	30	30			breast(1)|skin(1)	2	Broad	RecName: Full=Nuclear factor 1;			13184252		0.522	ENSG00000008441	10186	g.chr19:13184252G>A	DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity							58.492228	KEEP	15	13	-1	67	61	15	13	-1	71.249648	67	61	0.183824	1	0	0	0	0	0	0	1	0	--	--		0	A			NFIX_uc002mwd.2_Silent_p.Q213Q|NFIX_uc002mwe.2_Silent_p.Q205Q|NFIX_uc002mwf.2_Silent_p.Q216Q|NFIX_uc002mwg.1_Silent_p.Q212Q	45	GBM-06-0195-TP	p.Q221Q	G	TAAGTTTCCAGGACTGTTTTG			13184252	Q14938	NFIX_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)		4	716	+	A	A			Silent	213						
NFIX	4784	broad.mit.edu	GRCh37	19	13201118	13201118	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0214-01	TCGA-06-0214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397661.2:c.1260G>A	p.Ser420=	p.S420=	ENST00000397661	NM_002501.2	420	tcG/tcA	0	A:0.0002		1			A	A/T	uc010xmx.1	protein_coding					1408/1509									breast(1)|skin(1)	2	c.(1432-1434)GCA>ACA			hmmpanther:PTHR11492:SF3,hmmpanther:PTHR11492,Pfam_domain:PF00859	RecName: Full=Nuclear factor 1;			A:0	ENSP00000467512		11-Oct	2.48E-05		8.66E-05	0.000116				6.07E-05	rs372257657,COSM2817198,COSM2817197,COSM3403805	11-Oct	.		ENST00000592199	Transcript	1		DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	ENSG00000008441	g.chr19:13201118G>A	7788			MODERATE								--	--	1																																		NFIX_uc002mwd.2_Silent_p.S420S|NFIX_uc002mwe.2_Silent_p.S412S|NFIX_uc002mwf.2_Silent_p.S382S|NFIX_uc002mwg.1_Silent_p.S419S	0,1,1,1			benign(0.169)	p.A478T				tolerated(0.22)	0,1,1,1	NFIX_HUMAN	NFIX	HGNC	Q14938	NFIX_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)		K7ESG9_HUMAN,K7EN08_HUMAN,K7EKH0_HUMAN		10	1485	+			UPI000012FFCC	470					SNV	NFIX,missense_variant,p.Ala428Thr,ENST00000358552,;NFIX,missense_variant,p.Ala423Thr,ENST00000588228,NM_001271043.1;NFIX,missense_variant,p.Ala470Thr,ENST00000592199,;NFIX,missense_variant,p.Ala462Thr,ENST00000585575,;NFIX,synonymous_variant,p.=,ENST00000360105,;NFIX,synonymous_variant,p.=,ENST00000397661,NM_002501.2;NFIX,synonymous_variant,p.=,ENST00000587260,;NFIX,synonymous_variant,p.=,ENST00000587760,NM_001271044.1;NFIX,3_prime_UTR_variant,,ENST00000586797,;	uc010xmx.1	c.1432G>A	1408/1509	1	1			c.1432G>A						19	SNP	c.(1432-1434)GCA>ACA	55	55			breast(1)|skin(1)	2	Broad	RecName: Full=Nuclear factor 1;			13201118		0.642	ENSG00000008441	10186	g.chr19:13201118G>A	DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity							-3.858309	KEEP	7	8	-1	85	101	7	8	-1	28.439929	85	101	0.074713	1	0	0	0	0	1	0	0	0	--	--		0	A			NFIX_uc002mwd.2_Silent_p.S420S|NFIX_uc002mwe.2_Silent_p.S412S|NFIX_uc002mwf.2_Silent_p.S382S|NFIX_uc002mwg.1_Silent_p.S419S	50	GBM-06-0214-TP	p.A478T	G	CACAGCATTCGCAACGACAGG			13201118	Q14938	NFIX_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)		10	1485	+	A	A			Missense_Mutation	470						
NFIX	0	broad.mit.edu	GRCh37	19	13189498	13189498	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000592199.1:c.1027C>T	p.Arg343Cys	p.R343C	ENST00000592199		343	Cgc/Tgc	0			1			T	R/C	uc010xmx.1	protein_coding					1027/1509									breast(1)|skin(1)	2	c.(1051-1053)CGC>TGC			hmmpanther:PTHR11492:SF3,hmmpanther:PTHR11492,Pfam_domain:PF00859	RecName: Full=Nuclear factor 1;				ENSP00000467512		11-Jul									COSM3403804,COSM3403802,COSM3403803	11-Jul	.		ENST00000592199	Transcript	1		DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	ENSG00000008441	g.chr19:13189498C>T	7788			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=NFIX_HUMAN&rb=213&re=502&var=R343C	NA	getma.org/?cm=var&var=hg19,19,13189498,C,T&fts=all	R343C	--	--	1																																		NFIX_uc002mwd.2_Missense_Mutation_p.R343C|NFIX_uc002mwe.2_Missense_Mutation_p.R335C|NFIX_uc002mwf.2_Intron|NFIX_uc002mwg.1_Missense_Mutation_p.R342C	1,1,1			probably_damaging(0.94)	p.R351C				deleterious(0)	1,1,1	NFIX_HUMAN	NFIX	HGNC	Q14938	NFIX_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)		K7ESG9_HUMAN,K7EN08_HUMAN,K7EKH0_HUMAN		7	1104	+			UPI000012FFCC	343					SNV	NFIX,missense_variant,p.Arg343Cys,ENST00000397661,NM_002501.2;NFIX,missense_variant,p.Arg296Cys,ENST00000588228,NM_001271043.1;NFIX,missense_variant,p.Arg342Cys,ENST00000587260,;NFIX,missense_variant,p.Arg343Cys,ENST00000592199,;NFIX,missense_variant,p.Arg335Cys,ENST00000587760,NM_001271044.1;NFIX,missense_variant,p.Arg335Cys,ENST00000585575,;NFIX,intron_variant,,ENST00000358552,;NFIX,intron_variant,,ENST00000360105,;NFIX,downstream_gene_variant,,ENST00000588680,;NFIX,3_prime_UTR_variant,,ENST00000586797,;NFIX,3_prime_UTR_variant,,ENST00000585382,;	uc010xmx.1	c.1051C>T	1027/1509	1	1			c.1051C>T						19	SNP	c.(1051-1053)CGC>TGC	7	7			breast(1)|skin(1)	2	Broad	RecName: Full=Nuclear factor 1;			13189498		0.642	ENSG00000008441	10186	g.chr19:13189498C>T	DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity							8.422834	KEEP	2	1	-1	3	4	2	1	-1	8.643823	3	4	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	T			NFIX_uc002mwd.2_Missense_Mutation_p.R343C|NFIX_uc002mwe.2_Missense_Mutation_p.R335C|NFIX_uc002mwf.2_Intron|NFIX_uc002mwg.1_Missense_Mutation_p.R342C	230	GBM-32-1979-TP	p.R351C	C	CAGCTCCCCGCGCATGGCTTT			13189498	Q14938	NFIX_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)		7	1104	+	T	T			Missense_Mutation	343						
NFKB1	0	broad.mit.edu	GRCh37	4	103518775	103518775	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs139575566		TCGA-15-1444-01	TCGA-15-1444-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394820.4:c.1591G>A	p.Val531Ile	p.V531I	ENST00000394820		531	Gtc/Atc	0	A:0	A:0	1	A:0		A	V/I	uc011ceq.1	protein_coding		CCDS54783.1			1591/2907									ovary(2)|breast(2)|skin(1)	5	c.(1591-1593)GTC>ATC			Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR24169,hmmpanther:PTHR24169:SF9	nuclear factor kappa-B, subunit 1 isoform 1	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	A:0.001	A:0.0001	ENSP00000378297	A:0.001	15/24	0.00014			0.000347		0.00021			rs139575566,COSM144954	15/24	.		ENST00000394820	Transcript		A:0.0004	anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	ENSG00000109320	g.chr4:103518775G>A	7794			MODERATE		1.95	medium	getma.org/?cm=msa&ty=f&p=NFKB1_HUMAN&rb=443&re=581&var=V531I	NA	getma.org/?cm=var&var=hg19,4,103518775,G,A&fts=all	V531I	--	--	1																																		NFKB1_uc011cep.1_Missense_Mutation_p.V532I|NFKB1_uc011cer.1_Missense_Mutation_p.V351I	0,1			benign(0.296)	p.V531I	NM_003998	NP_003989	A:0	tolerated(0.14)	0,1	NFKB1_HUMAN	NFKB1	HGNC	P19838	NFKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	D6RF93_HUMAN		15	2058	+		Hepatocellular(203;0.217)	UPI000000D917	531			Interaction with CFLAR.		SNV	NFKB1,missense_variant,p.Val532Ile,ENST00000226574,NM_003998.3,NM_001165412.1;NFKB1,missense_variant,p.Val351Ile,ENST00000600343,;NFKB1,missense_variant,p.Val531Ile,ENST00000505458,;NFKB1,missense_variant,p.Val531Ile,ENST00000394820,;NFKB1,downstream_gene_variant,,ENST00000508584,;NFKB1,downstream_gene_variant,,ENST00000504044,;	uc011ceq.1	c.1591G>A	2056/3693	2	2			c.1591G>A						4	SNP	c.(1591-1593)GTC>ATC	30	30			ovary(2)|breast(2)|skin(1)	5	Broad	nuclear factor kappa-B, subunit 1 isoform 1		Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	103518775		0.522	ENSG00000109320	10187	g.chr4:103518775G>A	anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			318			318	42.582157	KEEP	12	8	-1	34	44	12	8	-1	49.722064	34	44	0.208791	1	0	0	0	0	1	0	0	0	--	--		0	A			NFKB1_uc011cep.1_Missense_Mutation_p.V532I|NFKB1_uc011cer.1_Missense_Mutation_p.V351I	154	GBM-15-1444-TP	p.V531I	G	GCTGCTGGCCGTCCAGCGCCA	NM_003998	NP_003989	103518775	P19838	NFKB1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	15	2058	+	A	A		Hepatocellular(203;0.217)	Missense_Mutation	531			Interaction with CFLAR.			
NFKB2	0	broad.mit.edu	GRCh37	10	104158521	104158521	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-32-2634-01	TCGA-32-2634-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369966.3:c.1017G>T	p.Arg339=	p.R339=	ENST00000369966	NM_001077494.2	339	cgG/cgT	0			1			T	R	uc001kvb.2	protein_coding	YES	CCDS41564.1			1017/2703	T		IGH@		B-NHL				lung(3)	3	c.(1015-1017)CGG>CGT			Superfamily_domains:SSF81296,Gene3D:2.60.40.10,hmmpanther:PTHR24169:SF19,hmmpanther:PTHR24169	nuclear factor of kappa light polypeptide gene				ENSP00000358983		23-Dec									COSM3396887	23-Dec	.		ENST00000369966	Transcript	1		innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	ENSG00000077150	g.chr10:104158521G>T	7795			LOW								--	--	1																																		NFKB2_uc001kva.2_Silent_p.R339R|NFKB2_uc010qqk.1_Silent_p.R339R|NFKB2_uc001kvd.2_Silent_p.R339R|NFKB2_uc009xxc.2_Silent_p.R339R	1	1			p.R339R	NM_001077494	NP_001070962			1	NFKB2_HUMAN	NFKB2	HGNC	Q00653	NFKB2_HUMAN		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	M0R119_HUMAN,M0QZX1_HUMAN		12	1282	+		Colorectal(252;0.00957)	UPI000016A5CD	339			RHD.|Nuclear localization signal (Potential).		SNV	NFKB2,synonymous_variant,p.=,ENST00000369966,NM_001077494.2;NFKB2,synonymous_variant,p.=,ENST00000428099,NM_001288724.1;NFKB2,synonymous_variant,p.=,ENST00000189444,NM_001261403.1,NM_002502.4;PSD,downstream_gene_variant,,ENST00000020673,NM_001270966.1,NM_002779.4;PSD,downstream_gene_variant,,ENST00000406432,NM_001270965.1;NFKB2,downstream_gene_variant,,ENST00000601386,;NFKB2,downstream_gene_variant,,ENST00000471698,;NFKB2,non_coding_transcript_exon_variant,,ENST00000336486,;NFKB2,downstream_gene_variant,,ENST00000593908,;NFKB2,non_coding_transcript_exon_variant,,ENST00000467116,;NFKB2,upstream_gene_variant,,ENST00000473400,;	uc001kvb.2	c.1017G>T	1267/3101	2	2			c.1017G>T	T		IGH@		B-NHL	10	SNP	c.(1015-1017)CGG>CGT	46	46			lung(3)	3	Broad	nuclear factor of kappa light polypeptide gene			104158521		0.637	ENSG00000077150	10188	g.chr10:104158521G>T	innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			140			140	53.486781	KEEP	14	6	0.7	7	2	14	6	0.7	54.034788	7	2	0.653846	1	0	0	0	0	0	0	1	0	--	--		0	T			NFKB2_uc001kva.2_Silent_p.R339R|NFKB2_uc010qqk.1_Silent_p.R339R|NFKB2_uc001kvd.2_Silent_p.R339R|NFKB2_uc009xxc.2_Silent_p.R339R	241	GBM-32-2634-TP	p.R339R	G	AGCGGAAGCGGAGGAAGGCCT	NM_001077494	NP_001070962	104158521	Q00653	NFKB2_HUMAN	0		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	12	1282	+	T	T		Colorectal(252;0.00957)	Silent	339			RHD.|Nuclear localization signal (Potential).			
NFKB2	0	broad.mit.edu	GRCh37	10	104156679	104156679	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4210-01	TCGA-32-4210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369966.3:c.262C>T	p.Pro88Ser	p.P88S	ENST00000369966	NM_001077494.2	88	Cca/Tca	0			1			T	P/S	uc001kvb.2	protein_coding	YES	CCDS41564.1			262/2703	T		IGH@		B-NHL				lung(3)	3	c.(262-264)CCA>TCA			Superfamily_domains:SSF49417,Gene3D:2.60.40.340,Pfam_domain:PF00554,hmmpanther:PTHR24169:SF19,hmmpanther:PTHR24169,PROSITE_profiles:PS50254	nuclear factor of kappa light polypeptide gene				ENSP00000358983		23-Jun									COSM3396886	23-Jun	.		ENST00000369966	Transcript	1		innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	ENSG00000077150	g.chr10:104156679C>T	7795			MODERATE		1.565	low	getma.org/?cm=msa&ty=f&p=NFKB2_HUMAN&rb=40&re=220&var=P88S	getma.org/pdb.php?prot=NFKB2_HUMAN&from=40&to=220&var=P88S	getma.org/?cm=var&var=hg19,10,104156679,C,T&fts=all	P88S	--	--	1																																		NFKB2_uc001kva.2_Missense_Mutation_p.P88S|NFKB2_uc010qqk.1_Missense_Mutation_p.P88S|NFKB2_uc001kvd.2_Missense_Mutation_p.P88S|NFKB2_uc009xxc.2_Missense_Mutation_p.P88S	1	1		benign(0.014)	p.P88S	NM_001077494	NP_001070962		tolerated(0.39)	1	NFKB2_HUMAN	NFKB2	HGNC	Q00653	NFKB2_HUMAN		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	M0R119_HUMAN,M0QZX1_HUMAN		6	527	+		Colorectal(252;0.00957)	UPI000016A5CD	88			RHD.		SNV	NFKB2,missense_variant,p.Pro88Ser,ENST00000369966,NM_001077494.2;NFKB2,missense_variant,p.Pro88Ser,ENST00000428099,NM_001288724.1;NFKB2,missense_variant,p.Pro88Ser,ENST00000189444,NM_001261403.1,NM_002502.4;NFKB2,downstream_gene_variant,,ENST00000601386,;NFKB2,downstream_gene_variant,,ENST00000471698,;NFKB2,upstream_gene_variant,,ENST00000336486,;NFKB2,downstream_gene_variant,,ENST00000593908,;NFKB2,non_coding_transcript_exon_variant,,ENST00000467116,;NFKB2,upstream_gene_variant,,ENST00000473400,;	uc001kvb.2	c.262C>T	512/3101	2	2			c.262C>T	T		IGH@		B-NHL	10	SNP	c.(262-264)CCA>TCA	33	33			lung(3)	3	Broad	nuclear factor of kappa light polypeptide gene			104156679		0.602	ENSG00000077150	10188	g.chr10:104156679C>T	innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			140			140	-3.117018	KEEP	1	2	-1	35	22	1	2	-1	6.460723	35	22	0.0625	1	0	0	0	0	1	0	0	0	--	--		0	T			NFKB2_uc001kva.2_Missense_Mutation_p.P88S|NFKB2_uc010qqk.1_Missense_Mutation_p.P88S|NFKB2_uc001kvd.2_Missense_Mutation_p.P88S|NFKB2_uc009xxc.2_Missense_Mutation_p.P88S	245	GBM-32-4210-TP	p.P88S	C	CTACGAGGGACCAGCCAAGAT	NM_001077494	NP_001070962	104156679	Q00653	NFKB2_HUMAN	0		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	6	527	+	T	T		Colorectal(252;0.00957)	Missense_Mutation	88			RHD.			
NFKBIA	0	broad.mit.edu	GRCh37	14	35871759	35871759	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-27-1832-01	TCGA-27-1832-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216797.5:c.747G>T	p.Gln249His	p.Q249H	ENST00000216797	NM_020529.2	249	caG/caT	0			1			A	Q/H	uc001wtf.3	protein_coding	YES	CCDS9656.1			747/954									breast(2)	2	c.(745-747)CAG>CAT			Superfamily_domains:SSF48403,Gene3D:1.25.40.20,hmmpanther:PTHR24139,PROSITE_profiles:PS50297	nuclear factor of kappa light polypeptide gene				ENSP00000216797		6-May									COSM3401298	6-May	.		ENST00000216797	Transcript	1		anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding	ENSG00000100906	g.chr14:35871759C>A	7797			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=IKBA_HUMAN&rb=249&re=317&var=Q249H	getma.org/pdb.php?prot=IKBA_HUMAN&from=249&to=317&var=Q249H	getma.org/?cm=var&var=hg19,14,35871759,C,A&fts=all	Q249H	--	--	1																																		NFKBIA_uc001wte.3_Missense_Mutation_p.Q159H|NFKBIA_uc001wtg.3_Intron|NFKBIA_uc010amo.2_RNA	1	1		probably_damaging(0.985)	p.Q249H	NM_020529	NP_065390		tolerated(0.06)	1	IKBA_HUMAN	NFKBIA	HGNC	P25963	IKBA_HUMAN	Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	Q9UGJ5_HUMAN,G3V286_HUMAN		5	857	-	Breast(36;0.0484)|Hepatocellular(127;0.158)		UPI000004F0A9	249					SNV	NFKBIA,missense_variant,p.Gln249His,ENST00000216797,NM_020529.2;NFKBIA,missense_variant,p.Gln159His,ENST00000557389,;NFKBIA,intron_variant,,ENST00000557140,;NFKBIA,downstream_gene_variant,,ENST00000553342,;NFKBIA,non_coding_transcript_exon_variant,,ENST00000557100,;NFKBIA,3_prime_UTR_variant,,ENST00000554001,;NFKBIA,non_coding_transcript_exon_variant,,ENST00000555371,;NFKBIA,downstream_gene_variant,,ENST00000557459,;NFKBIA,downstream_gene_variant,,ENST00000555629,;NFKBIA,downstream_gene_variant,,ENST00000556664,;	uc001wtf.3	c.747G>T	849/1558	2	2			c.747G>T						14	SNP	c.(745-747)CAG>CAT	17	17			breast(2)	2	Broad	nuclear factor of kappa light polypeptide gene			35871759		0.577	ENSG00000100906	10189	g.chr14:35871759C>A	anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding			105			105	-20.861796	KEEP	8	8	0.5	156	94	8	8	0.5	27.9503	156	94	0.058577	1	0	0	0	0	1	0	0	0	--	--		0	A			NFKBIA_uc001wte.3_Missense_Mutation_p.Q159H|NFKBIA_uc001wtg.3_Intron|NFKBIA_uc010amo.2_RNA	191	GBM-27-1832-TP	p.Q249H	C	GAGAATAGCCCTGGTAGGTAA	NM_020529	NP_065390	35871759	P25963	IKBA_HUMAN	0	Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	5	857	-	A	A	Breast(36;0.0484)|Hepatocellular(127;0.158)		Missense_Mutation	249						
NFKBIE	0	broad.mit.edu	GRCh37	6	44229489	44229489	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0688-01	TCGA-12-0688-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275015.5:c.982G>A	p.Asp328Asn	p.D328N	ENST00000275015	NM_004556.2	328	Gac/Aac	0			1			T	D/N	uc003oxe.1	protein_coding	YES	CCDS34463.1			982/1503									breast(2)	2	c.(982-984)GAC>AAC			PROSITE_profiles:PS50297,hmmpanther:PTHR24118:SF37,hmmpanther:PTHR24118,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403,Prints_domain:PR01415	nuclear factor of kappa light polypeptide gene				ENSP00000275015		6-Mar									COSM2153891	6-Mar	.		ENST00000275015	Transcript			cytoplasmic sequestering of transcription factor		protein binding	ENSG00000146232	g.chr6:44229489C>T	7799			MODERATE		0.465	neutral	getma.org/?cm=msa&ty=f&p=IKBE_HUMAN&rb=326&re=356&var=D328N	NA	getma.org/?cm=var&var=hg19,6,44229489,C,T&fts=all	D328N	--	--	1																																			1	1		benign(0.04)	p.D328N	NM_004556	NP_004547		tolerated(1)	1	IKBE_HUMAN	NFKBIE	HGNC	O00221	IKBE_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Q96F31_HUMAN,Q7LC14_HUMAN,H0Y4W4_HUMAN		3	1007	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		UPI000013DA3C	328			ANK 3.		SNV	NFKBIE,missense_variant,p.Asp328Asn,ENST00000275015,NM_004556.2;SLC35B2,upstream_gene_variant,,ENST00000393812,NM_178148.2,NM_001286520.1,NM_001286512.1,NM_001286510.1,NM_001286509.1,NM_001286511.1,NM_001286517.1;SLC35B2,upstream_gene_variant,,ENST00000393810,;SLC35B2,upstream_gene_variant,,ENST00000538577,NM_001286513.1;SLC35B2,upstream_gene_variant,,ENST00000537814,;NFKBIE,upstream_gene_variant,,ENST00000443607,;SLC35B2,upstream_gene_variant,,ENST00000495706,;NFKBIE,3_prime_UTR_variant,,ENST00000477930,;	uc003oxe.1	c.982G>A	982/2556	2	2			c.982G>A						6	SNP	c.(982-984)GAC>AAC	48	48			breast(2)	2	Broad	nuclear factor of kappa light polypeptide gene			44229489		0.652	ENSG00000146232	10192	g.chr6:44229489C>T	cytoplasmic sequestering of transcription factor		protein binding							64.375558	KEEP	16	11	-1	24	21	16	11	-1	65.161733	24	21	0.380952	1	0	0	0	0	1	0	0	0	--	--		0	T				121	GBM-12-0688-TP	p.D328N	C	AGGGCTGTGTCACCATGCCGG	NM_004556	NP_004547	44229489	O00221	IKBE_HUMAN	0	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	1007	-	T	T	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Missense_Mutation	328			ANK 3.			
NFKBIE	0	broad.mit.edu	GRCh37	6	44229437	44229437	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-4209-01	TCGA-32-4209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275015.5:c.1034G>T	p.Cys345Phe	p.C345F	ENST00000275015	NM_004556.2	345	tGc/tTc	0			1			A	C/F	uc003oxe.1	protein_coding	YES	CCDS34463.1			1034/1503									breast(2)	2	c.(1033-1035)TGC>TTC			PROSITE_profiles:PS50297,hmmpanther:PTHR24118:SF37,hmmpanther:PTHR24118,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	nuclear factor of kappa light polypeptide gene				ENSP00000275015		6-Mar									COSM3748343	6-Mar	.		ENST00000275015	Transcript			cytoplasmic sequestering of transcription factor		protein binding	ENSG00000146232	g.chr6:44229437C>A	7799			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=IKBE_HUMAN&rb=326&re=356&var=C345F	NA	getma.org/?cm=var&var=hg19,6,44229437,C,A&fts=all	C345F	--	--	1																																			1	1		benign(0.326)	p.C345F	NM_004556	NP_004547		tolerated(0.47)	1	IKBE_HUMAN	NFKBIE	HGNC	O00221	IKBE_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Q96F31_HUMAN,Q7LC14_HUMAN,H0Y4W4_HUMAN		3	1059	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		UPI000013DA3C	345			ANK 3.		SNV	NFKBIE,missense_variant,p.Cys345Phe,ENST00000275015,NM_004556.2;SLC35B2,upstream_gene_variant,,ENST00000393812,NM_178148.2,NM_001286520.1,NM_001286512.1,NM_001286510.1,NM_001286509.1,NM_001286511.1,NM_001286517.1;SLC35B2,upstream_gene_variant,,ENST00000393810,;SLC35B2,upstream_gene_variant,,ENST00000538577,NM_001286513.1;SLC35B2,upstream_gene_variant,,ENST00000537814,;NFKBIE,upstream_gene_variant,,ENST00000443607,;SLC35B2,upstream_gene_variant,,ENST00000495706,;NFKBIE,3_prime_UTR_variant,,ENST00000477930,;	uc003oxe.1	c.1034G>T	1034/2556	2	2			c.1034G>T						6	SNP	c.(1033-1035)TGC>TTC	32	32			breast(2)	2	Broad	nuclear factor of kappa light polypeptide gene			44229437		0.632	ENSG00000146232	10192	g.chr6:44229437C>A	cytoplasmic sequestering of transcription factor		protein binding							-5.82397	KEEP	2	1	0.333333333	32	36	2	1	0.333333333	7.061753	32	36	0.05	1	0	0	0	0	1	0	0	0	--	--		0	A				244	GBM-32-4209-TP	p.C345F	C	TTCCAGCAGGCAGCGGGCACA	NM_004556	NP_004547	44229437	O00221	IKBE_HUMAN	0	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	1059	-	A	A	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Missense_Mutation	345			ANK 3.			
NFRKB	4798	broad.mit.edu	GRCh37	11	129751720	129751720	+	stop_gained	Nonsense_Mutation	SNP	G	G	C			TCGA-06-0122-01	TCGA-06-0122-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000524794.1:c.1295C>G	p.Ser432Ter	p.S432*	ENST00000524794		432	tCa/tGa	0			1			C	S/*	uc001qfi.2	protein_coding		CCDS44770.1			1220/3900									ovary(3)	3	c.(1219-1221)TCA>TGA			hmmpanther:PTHR13052,Pfam_domain:PF14465	nuclear factor related to kappaB binding protein				ENSP00000400476		26-Nov									COSM3397557	26-Nov	.		ENST00000446488	Transcript			DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	ENSG00000170322	g.chr11:129751720G>C	7802			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,11,129751720,G,C&fts=all	S407*	--	--	1																																OREG0021512	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NFRKB_uc001qfg.2_Nonsense_Mutation_p.S432*|NFRKB_uc001qfh.2_Nonsense_Mutation_p.S430*|NFRKB_uc010sbw.1_Nonsense_Mutation_p.S419*	1				p.S407*	NM_001143835	NP_001137307			1	NFRKB_HUMAN	NFRKB	HGNC	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	E9PM88_HUMAN,E9PJU3_HUMAN,E9PJG2_HUMAN		12	1421	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	UPI00001FA6B0	407					SNV	NFRKB,stop_gained,p.Ser407Ter,ENST00000446488,NM_001143835.1;NFRKB,stop_gained,p.Ser407Ter,ENST00000304521,NM_006165.3;NFRKB,stop_gained,p.Ser432Ter,ENST00000524794,;NFRKB,stop_gained,p.Ser407Ter,ENST00000524746,;NFRKB,stop_gained,p.Ser419Ter,ENST00000531755,;NFRKB,downstream_gene_variant,,ENST00000532225,;NFRKB,downstream_gene_variant,,ENST00000529319,;NFRKB,downstream_gene_variant,,ENST00000530278,;	uc001qfi.2	c.1220C>G	1324/5093	5	3			c.1220C>G						11	SNP	c.(1219-1221)TCA>TGA	59	59			ovary(3)	3	Broad	nuclear factor related to kappaB binding protein			129751720		0.557	ENSG00000170322	10196	g.chr11:129751720G>C	DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding							22.150365	KEEP	8	1	-1	21	22	8	1	-1	26.12045	21	22	0.195652	1	0	0	0	0	0	1	0	0	--	--		0	C	OREG0021512	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NFRKB_uc001qfg.2_Nonsense_Mutation_p.S432*|NFRKB_uc001qfh.2_Nonsense_Mutation_p.S430*|NFRKB_uc010sbw.1_Nonsense_Mutation_p.S419*	10	GBM-06-0122-TP	p.S407*	G	GGCTGGCGATGACTGCCAATC	NM_001143835	NP_001137307	129751720	Q6P4R8	NFRKB_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	12	1421	-	C	C	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	Nonsense_Mutation	407						
NFRKB	0	broad.mit.edu	GRCh37	11	129762715	129762715	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-81-5910-01	TCGA-81-5910-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000446488.3:c.30T>G	p.Asp10Glu	p.D10E	ENST00000446488	NM_001143835.1	10	gaT/gaG	0			1			C	D/E	uc001qfi.2	protein_coding		CCDS44770.1			30/3900									ovary(3)	3	c.(28-30)GAT>GAG			hmmpanther:PTHR13052	nuclear factor related to kappaB binding protein				ENSP00000400476		26-Feb									COSM3397558	26-Feb	.		ENST00000446488	Transcript			DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	ENSG00000170322	g.chr11:129762715A>C	7802			MODERATE		0.92	low	getma.org/?cm=msa&ty=f&p=NFRKB_HUMAN&rb=1&re=200&var=D10E	NA	getma.org/?cm=var&var=hg19,11,129762715,A,C&fts=all	D10E	--	--	1																																		NFRKB_uc001qfg.2_Missense_Mutation_p.D23E|NFRKB_uc001qfh.2_Missense_Mutation_p.D33E|NFRKB_uc010sbw.1_Missense_Mutation_p.D10E	1			unknown(0)	p.D10E	NM_001143835	NP_001137307		deleterious_low_confidence(0.04)	1	NFRKB_HUMAN	NFRKB	HGNC	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	E9PM88_HUMAN,E9PJU3_HUMAN,E9PJG2_HUMAN		3	231	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	UPI00001FA6B0	10					SNV	NFRKB,missense_variant,p.Asp10Glu,ENST00000446488,NM_001143835.1;NFRKB,missense_variant,p.Asp10Glu,ENST00000304521,NM_006165.3;NFRKB,missense_variant,p.Asp23Glu,ENST00000524794,;NFRKB,missense_variant,p.Asp10Glu,ENST00000524746,;NFRKB,missense_variant,p.Asp10Glu,ENST00000531755,;NFRKB,missense_variant,p.Asp10Glu,ENST00000532225,;NFRKB,missense_variant,p.Asp10Glu,ENST00000529319,;NFRKB,missense_variant,p.Asp10Glu,ENST00000526884,;NFRKB,missense_variant,p.Asp10Glu,ENST00000531318,;NFRKB,missense_variant,p.Asp10Glu,ENST00000526940,;NFRKB,missense_variant,p.Asp10Glu,ENST00000530278,;	uc001qfi.2	c.30T>G	134/5093	3	3			c.30T>G						11	SNP	c.(28-30)GAT>GAG	63	63			ovary(3)	3	Broad	nuclear factor related to kappaB binding protein			129762715		0.522	ENSG00000170322	10196	g.chr11:129762715A>C	DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding							-0.402858	KEEP	2	1	-1	29	24	2	1	-1	8.346125	29	24	0.066667	1	0	0	0	0	1	0	0	0	--	--		0	C			NFRKB_uc001qfg.2_Missense_Mutation_p.D23E|NFRKB_uc001qfh.2_Missense_Mutation_p.D33E|NFRKB_uc010sbw.1_Missense_Mutation_p.D10E	289	GBM-81-5910-TP	p.D10E	A	GTTCCAGAGGATCTGTCAGCA	NM_001143835	NP_001137307	129762715	Q6P4R8	NFRKB_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	3	231	-	C	C	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	Missense_Mutation	10						
NFX1	4799	broad.mit.edu	GRCh37	9	33294757	33294757	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs147195056		TCGA-06-0184-01	TCGA-06-0184-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379540.3:c.365A>C	p.Gln122Pro	p.Q122P	ENST00000379540	NM_002504.4	122	cAg/cCg	0			1			C	Q/P	uc003zsq.2	protein_coding	YES	CCDS6538.1			365/3363									ovary(1)	1	c.(364-366)CAG>CCG			hmmpanther:PTHR12360,hmmpanther:PTHR12360:SF0	nuclear transcription factor, X-box binding 1				ENSP00000368856		24-Feb									COSM2150464	24-Feb	.		ENST00000379540	Transcript			inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000086102	g.chr9:33294757A>C	7803			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=NFX1_HUMAN&rb=1&re=200&var=Q122P	NA	getma.org/?cm=var&var=hg19,9,33294757,A,C&fts=all	Q122P	--	--	1																																		SUGT1P1_uc010mjq.1_Intron|NFX1_uc011lnw.1_Missense_Mutation_p.Q122P|NFX1_uc003zso.2_Missense_Mutation_p.Q122P|NFX1_uc003zsp.1_Missense_Mutation_p.Q122P|NFX1_uc010mjr.1_Missense_Mutation_p.Q122P|NFX1_uc003zsr.2_Missense_Mutation_p.Q122P	1	1		benign(0.033)	p.Q122P	NM_002504	NP_002495		deleterious(0.05)	1	NFX1_HUMAN	NFX1	HGNC	Q12986	NFX1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)			2	426	+			UPI0000072140	122					SNV	NFX1,missense_variant,p.Gln122Pro,ENST00000379540,NM_002504.4;NFX1,missense_variant,p.Gln122Pro,ENST00000379521,NM_147133.2;NFX1,missense_variant,p.Gln122Pro,ENST00000318524,NM_147134.2;	uc003zsq.2	c.365A>C	427/4604	3	3			c.365A>C						9	SNP	c.(364-366)CAG>CCG	11	11			ovary(1)	1	Broad	nuclear transcription factor, X-box binding 1			33294757		0.483	ENSG00000086102	10199	g.chr9:33294757A>C	inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding							229.281072	KEEP	35	51	-1	97	126	35	51	-1	240.666395	97	126	0.286738	1	0	0	0	0	1	0	0	0	--	--		0	C			SUGT1P1_uc010mjq.1_Intron|NFX1_uc011lnw.1_Missense_Mutation_p.Q122P|NFX1_uc003zso.2_Missense_Mutation_p.Q122P|NFX1_uc003zsp.1_Missense_Mutation_p.Q122P|NFX1_uc010mjr.1_Missense_Mutation_p.Q122P|NFX1_uc003zsr.2_Missense_Mutation_p.Q122P	39	GBM-06-0184-TP	p.Q122P	A	AAGAAAGCACAGAGTCTTGCT	NM_002504	NP_002495	33294757	Q12986	NFX1_HUMAN	0	LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)	2	426	+	C	C			Missense_Mutation	122						
NFXL1	0	broad.mit.edu	GRCh37	4	47864932	47864932	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C			TCGA-19-5959-01	TCGA-19-5959-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000507489.1:c.2247A>G	p.Arg749=	p.R749=	ENST00000507489	NM_001278624.1	749	agA/agG	0			1			C	R	uc010igh.2	protein_coding	YES	CCDS3478.2			2247/2736									ovary(1)|lung(1)|skin(1)	3	c.(2245-2247)AGA>AGG			hmmpanther:PTHR12360,hmmpanther:PTHR12360:SF1	nuclear transcription factor, X-box binding-like				ENSP00000422037		19/23									COSM3409328	19/23	.		ENST00000507489	Transcript				integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000170448	g.chr4:47864932T>C	18726			LOW								--	--	1																																		NFXL1_uc003gxo.2_Silent_p.R74R|NFXL1_uc003gxp.2_Silent_p.R749R|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Silent_p.R749R	1	1			p.R749R	NM_152995	NP_694540			1	NFXL1_HUMAN	NFXL1	HGNC	Q6ZNB6	NFXL1_HUMAN					19	2424	-			UPI000020BC5D	749					SNV	NFXL1,splice_region_variant,p.=,ENST00000507489,NM_001278624.1;NFXL1,splice_region_variant,p.=,ENST00000381538,NM_152995.5,NM_001278623.1;NFXL1,splice_region_variant,,ENST00000464756,;NFXL1,splice_region_variant,,ENST00000507131,;NFXL1,splice_region_variant,,ENST00000502448,;NFXL1,splice_region_variant,,ENST00000508115,;	uc010igh.2	c.2247A>G	2424/3833	3	3			c.2247A>G						4	SNP	c.(2245-2247)AGA>AGG	3	3			ovary(1)|lung(1)|skin(1)	3	Broad	nuclear transcription factor, X-box binding-like			47864932		0.269	ENSG00000170448	10200	g.chr4:47864932T>C		integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding							-23.086414	KEEP	4	3	-1	60	93	4	3	-1	12.551449	60	93	0.03871	1	0	0	0	0	0	0	1	0	--	--		0	C			NFXL1_uc003gxo.2_Silent_p.R74R|NFXL1_uc003gxp.2_Silent_p.R749R|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Silent_p.R749R	177	GBM-19-5959-TP	p.R749R	T	TGGTTATTTTTCTAAAAATAA	NM_152995	NP_694540	47864932	Q6ZNB6	NFXL1_HUMAN	0			19	2424	-	C	C			Silent	749						
NFXL1	0	broad.mit.edu	GRCh37	4	47886362	47886362	+	splice_donor_variant	Splice_Site	SNP	C	C	T			TCGA-28-2499-01	TCGA-28-2499-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329043.3:c.1916+1G>A		p.X639_splice	ENST00000329043				0			1			T		uc010igh.2	protein_coding					1916/2202									ovary(1)|lung(1)|skin(1)	3	c.e15+1				nuclear transcription factor, X-box binding-like				ENSP00000333113											COSM3409329,COSM3409330		.		ENST00000329043	Transcript				integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000170448	g.chr4:47886362C>T	18726			HIGH	15/17							--	--	1																																		NFXL1_uc003gxp.2_Splice_Site_p.M639_splice|NFXL1_uc003gxq.3_Splice_Site|NFXL1_uc010igi.2_Splice_Site_p.M639_splice	1,1				p.M639_splice	NM_152995	NP_694540			1,1	NFXL1_HUMAN	NFXL1	HGNC	Q6ZNB6	NFXL1_HUMAN					15	2093	-			UPI000018DB15						SNV	NFXL1,splice_donor_variant,,ENST00000507489,NM_001278624.1;NFXL1,splice_donor_variant,,ENST00000381538,NM_152995.5,NM_001278623.1;NFXL1,splice_donor_variant,,ENST00000329043,;NFXL1,splice_donor_variant,,ENST00000464756,;NFXL1,splice_donor_variant,,ENST00000507131,;	uc010igh.2	c.1916_splice	-/2271	5	2			c.1916_splice						4	SNP	c.e15+1	26	26			ovary(1)|lung(1)|skin(1)	3	Broad	nuclear transcription factor, X-box binding-like			47886362		0.368	ENSG00000170448	10200	g.chr4:47886362C>T		integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding							-6.560795	KEEP	6	2	-1	52	58	6	2	-1	14.419863	52	58	0.065421	1	0	0	0	0	0	0	0	1	--	--		0	T			NFXL1_uc003gxp.2_Splice_Site_p.M639_splice|NFXL1_uc003gxq.3_Splice_Site|NFXL1_uc010igi.2_Splice_Site_p.M639_splice	208	GBM-28-2499-TP	p.M639_splice	C	CTAATACTTACATAGGAATAG	NM_152995	NP_694540	47886362	Q6ZNB6	NFXL1_HUMAN	0			15	2093	-	T	T			Splice_Site							
NFYB	4801	broad.mit.edu	GRCh37	12	104517017	104517017	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0195-01	TCGA-06-0195-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000240055.3:c.416A>G	p.Gln139Arg	p.Q139R	ENST00000240055	NM_006166.3	139	cAg/cGg	0			1			C	Q/R	uc001tkl.1	protein_coding	YES	CCDS9098.1			416/624									upper_aerodigestive_tract(1)	1	c.(415-417)CAG>CGG			hmmpanther:PTHR11064:SF24,hmmpanther:PTHR11064,Gene3D:1.10.20.10,Superfamily_domains:SSF47113,Prints_domain:PR00615	nuclear transcription factor Y, beta				ENSP00000240055		8-May									COSM3398269	8-May	.		ENST00000240055	Transcript				CCAAT-binding factor complex	repressing transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000120837	g.chr12:104517017T>C	7805			MODERATE		2.075	medium	getma.org/?cm=msa&ty=f&p=NFYB_HUMAN&rb=123&re=207&var=Q139R	getma.org/pdb.php?prot=NFYB_HUMAN&from=123&to=207&var=Q139R	getma.org/?cm=var&var=hg19,12,104517017,T,C&fts=all	Q139R	--	--	1																																		NFYB_uc001tkk.1_Missense_Mutation_p.Q137R	1	1		possibly_damaging(0.483)	p.Q139R	NM_006166	NP_006157		deleterious(0.04)	1	NFYB_HUMAN	NFYB	HGNC	P25208	NFYB_HUMAN					5	617	-			UPI0000127178	139			B domain.		SNV	NFYB,missense_variant,p.Gln139Arg,ENST00000240055,NM_006166.3;NFYB,missense_variant,p.Gln139Arg,ENST00000551727,;NFYB,downstream_gene_variant,,ENST00000551446,;RNA5SP370,upstream_gene_variant,,ENST00000362545,;NFYB,non_coding_transcript_exon_variant,,ENST00000550189,;	uc001tkl.1	c.416A>G	644/3512	3	3			c.416A>G						12	SNP	c.(415-417)CAG>CGG	9	9			upper_aerodigestive_tract(1)	1	Broad	nuclear transcription factor Y, beta			104517017		0.244	ENSG00000120837	10202	g.chr12:104517017T>C		CCAAT-binding factor complex	repressing transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							66.139376	KEEP	17	6	-1	23	30	17	6	-1	68.36051	23	30	0.308824	1	0	0	0	0	1	0	0	0	--	--		0	C			NFYB_uc001tkk.1_Missense_Mutation_p.Q137R	45	GBM-06-0195-TP	p.Q139R	T	TCTGAATTTCTGAAGGTATAA	NM_006166	NP_006157	104517017	P25208	NFYB_HUMAN	0			5	617	-	C	C			Missense_Mutation	139			B domain.			
NGF	0	broad.mit.edu	GRCh37	1	115828831	115828831	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01	TCGA-12-1597-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369512.2:c.586C>T	p.His196Tyr	p.H196Y	ENST00000369512	NM_002506.2	196	Cac/Tac	0			1			A	H/Y	uc001efu.1	protein_coding	YES	CCDS882.1			586/726									upper_aerodigestive_tract(2)	2	c.(586-588)CAC>TAC			Gene3D:2.10.90.10,Pfam_domain:PF00243,PIRSF_domain:PIRSF001789,Prints_domain:PR00268,PROSITE_patterns:PS00248,PROSITE_profiles:PS50270,hmmpanther:PTHR11589,hmmpanther:PTHR11589:SF10,SMART_domains:SM00140,Superfamily_domains:SSF57501	nerve growth factor, beta polypeptide precursor	Clenbuterol(DB01407)			ENSP00000358525		3-Mar									COSM3399569	3-Mar	.		ENST00000369512	Transcript	1		activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	ENSG00000134259	g.chr1:115828831G>A	7808			MODERATE		1.98	medium	getma.org/?cm=msa&ty=f&p=NGF_HUMAN&rb=125&re=239&var=H196Y	getma.org/pdb.php?prot=NGF_HUMAN&from=125&to=239&var=H196Y	getma.org/?cm=var&var=hg19,1,115828831,G,A&fts=all	H196Y	--	--	1																																			1	1		probably_damaging(0.994)	p.H196Y	NM_002506	NP_002497		deleterious(0.01)	1	NGF_HUMAN	NGF	HGNC	P01138	NGF_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)			3	755	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	UPI0000039B11	196					SNV	NGF,missense_variant,p.His196Tyr,ENST00000369512,NM_002506.2;RP4-663N10.1,intron_variant,,ENST00000425449,;	uc001efu.1	c.586C>T	755/1047	2	2			c.586C>T						1	SNP	c.(586-588)CAC>TAC	29	29			upper_aerodigestive_tract(2)	2	Broad	nerve growth factor, beta polypeptide precursor		Clenbuterol(DB01407)	115828831		0.517	ENSG00000134259	10207	g.chr1:115828831G>A	activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			36			36	109.969742	KEEP	19	18	-1	23	18	19	18	-1	109.969742	23	18	0.5	1	0	0	0	0	1	0	0	0	--	--		0	A				124	GBM-12-1597-TP	p.H196Y	G	GAGTTCCAGTGCTTTGAGTCA	NM_002506	NP_002497	115828831	P01138	NGF_HUMAN	0		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	3	755	-	A	A	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	Missense_Mutation	196						
NGF	0	broad.mit.edu	GRCh37	1	115828973	115828973	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-3392-01	TCGA-41-3392-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369512.2:c.444C>T	p.Thr148=	p.T148=	ENST00000369512	NM_002506.2	148	acC/acT	0			1			A	T	uc001efu.1	protein_coding	YES	CCDS882.1			444/726									upper_aerodigestive_tract(2)	2	c.(442-444)ACC>ACT			Gene3D:2.10.90.10,Pfam_domain:PF00243,PIRSF_domain:PIRSF001789,Prints_domain:PR01913,PROSITE_profiles:PS50270,hmmpanther:PTHR11589,hmmpanther:PTHR11589:SF10,SMART_domains:SM00140,Superfamily_domains:SSF57501	nerve growth factor, beta polypeptide precursor	Clenbuterol(DB01407)			ENSP00000358525		3-Mar	1.65E-05		8.64E-05					6.06E-05	rs759622419,COSM3399570	3-Mar	.		ENST00000369512	Transcript	1		activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	ENSG00000134259	g.chr1:115828973G>A	7808			LOW								--	--	1																																			0,1	1			p.T148T	NM_002506	NP_002497			0,1	NGF_HUMAN	NGF	HGNC	P01138	NGF_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)			3	613	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	UPI0000039B11	148					SNV	NGF,synonymous_variant,p.=,ENST00000369512,NM_002506.2;RP4-663N10.1,intron_variant,,ENST00000425449,;	uc001efu.1	c.444C>T	613/1047	2	2			c.444C>T						1	SNP	c.(442-444)ACC>ACT	33	33			upper_aerodigestive_tract(2)	2	Broad	nerve growth factor, beta polypeptide precursor		Clenbuterol(DB01407)	115828973		0.527	ENSG00000134259	10207	g.chr1:115828973G>A	activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			36			36	-3.592276	KEEP	3	6	-1	63	74	3	6	-1	18.949116	63	74	0.068376	1	0	0	0	0	0	0	1	0	--	--		0	A				254	GBM-41-3392-TP	p.T148T	G	TGTCTGTGGCGGTGGTCTTAT	NM_002506	NP_002497	115828973	P01138	NGF_HUMAN	0		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	3	613	-	A	A	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	Silent	148						
NHLRC1	0	broad.mit.edu	GRCh37	6	18122155	18122155	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1980-01	TCGA-32-1980-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340650.3:c.683G>A	p.Gly228Glu	p.G228E	ENST00000340650	NM_198586.2	228	gGg/gAg	0			1			T	G/E	uc003ncl.1	protein_coding	YES	CCDS4542.1			683/1188										0	c.(682-684)GGG>GAG			PROSITE_profiles:PS51125,hmmpanther:PTHR24104,Gene3D:2.120.10.30,Superfamily_domains:SSF101898	NHL repeat containing 1				ENSP00000345464		1-Jan									COSM3410824	1-Jan	.		ENST00000340650	Transcript	1		proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000187566	g.chr6:18122155C>T	21576			MODERATE		-0.205	neutral	getma.org/?cm=msa&ty=f&p=NHLC1_HUMAN&rb=75&re=274&var=G228E	getma.org/pdb.php?prot=NHLC1_HUMAN&from=75&to=274&var=G228E	getma.org/?cm=var&var=hg19,6,18122155,C,T&fts=all	G228E	--	--	1																																			1	1		benign(0)	p.G228E	NM_198586	NP_940988		tolerated(1)	1	NHLC1_HUMAN	NHLRC1	HGNC	Q6VVB1	NHLC1_HUMAN	all cancers(50;0.0451)|Epithelial(50;0.0493)				1	697	-	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	UPI0000198CE1	228			NHL 3.		SNV	NHLRC1,missense_variant,p.Gly228Glu,ENST00000340650,NM_198586.2;	uc003ncl.1	c.683G>A	697/2134	1	1			c.683G>A						6	SNP	c.(682-684)GGG>GAG	6	6				0	Broad	NHL repeat containing 1			18122155		0.532	ENSG00000187566	10217	g.chr6:18122155C>T	proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding							6.657318	KEEP	0	5	-1	21	15	0	5	-1	12.144057	21	15	0.125	1	0	0	0	0	1	0	0	0	--	--		0	T				231	GBM-32-1980-TP	p.G228E	C	TACCACAATCCCATTCTGAGG	NM_198586	NP_940988	18122155	Q6VVB1	NHLC1_HUMAN	0	all cancers(50;0.0451)|Epithelial(50;0.0493)		1	697	-	T	T	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	Missense_Mutation	228			NHL 3.			
NHLRC2	374354	broad.mit.edu	GRCh37	10	115668096	115668096	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01	TCGA-06-0645-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369301.3:c.1982G>A	p.Ser661Asn	p.S661N	ENST00000369301	NM_198514.3	661	aGt/aAt	0			1			A	S/N	uc001lax.1	protein_coding	YES	CCDS7585.1			1982/2181									ovary(1)	1	c.(1981-1983)AGT>AAT			hmmpanther:PTHR13833:SF13,hmmpanther:PTHR13833	NHL repeat containing 2				ENSP00000358307		11-Nov									COSM2151289	11-Nov	.		ENST00000369301	Transcript			cell redox homeostasis			ENSG00000196865	g.chr10:115668096G>A	24731			MODERATE		-0.695	neutral	getma.org/?cm=msa&ty=f&p=NHLC2_HUMAN&rb=590&re=712&var=S661N	NA	getma.org/?cm=var&var=hg19,10,115668096,G,A&fts=all	S661N	--	--	1																																		NHLRC2_uc001lay.1_RNA	1	1		benign(0.001)	p.S661N	NM_198514	NP_940916		tolerated(0.81)	1	NHLC2_HUMAN	NHLRC2	HGNC	Q8NBF2	NHLC2_HUMAN		Epithelial(162;0.017)|all cancers(201;0.0187)			11	2194	+			UPI0000071EAF	661					SNV	NHLRC2,missense_variant,p.Ser661Asn,ENST00000369301,NM_198514.3;	uc001lax.1	c.1982G>A	2194/11051	2	2			c.1982G>A						10	SNP	c.(1981-1983)AGT>AAT	33	33			ovary(1)	1	Broad	NHL repeat containing 2			115668096		0.348	ENSG00000196865	10218	g.chr10:115668096G>A	cell redox homeostasis									115.366857	KEEP	19	23	-1	26	14	19	23	-1	115.366857	26	14	0.5	1	0	0	0	0	1	0	0	0	--	--		0	A			NHLRC2_uc001lay.1_RNA	59	GBM-06-0645-TP	p.S661N	G	AACATTTCCAGTCAACCAACA	NM_198514	NP_940916	115668096	Q8NBF2	NHLC2_HUMAN	0		Epithelial(162;0.017)|all cancers(201;0.0187)	11	2194	+	A	A			Missense_Mutation	661						
NHLRC3	0	broad.mit.edu	GRCh37	13	39613426	39613426	+	splice_donor_variant	Splice_Site	SNP	G	G	A			TCGA-06-6698-01	TCGA-06-6698-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379600.3:c.237+1G>A		p.X79_splice	ENST00000379600	NM_001012754.3			0			1			A		uc001uxc.2	protein_coding	YES	CCDS31961.1			237/1044									skin(1)	1	c.e2+1				NHL repeat containing 3 isoform a				ENSP00000368920											COSM3399363		.		ENST00000379600	Transcript				extracellular region		ENSG00000188811	g.chr13:39613426G>A	33751			HIGH	6-Feb							--	--	1																																		C13orf23_uc001uwy.2_5'Flank|C13orf23_uc001uwz.2_5'Flank|NHLRC3_uc001uxa.1_Splice_Site_p.Q79_splice|NHLRC3_uc001uxb.1_Splice_Site_p.Q79_splice|NHLRC3_uc001uxd.2_Splice_Site_p.Q79_splice|NHLRC3_uc001uxe.2_Splice_Site	1	1			p.Q79_splice	NM_001012754	NP_001012772			1	NHLC3_HUMAN	NHLRC3	HGNC	Q5JS37	NHLC3_HUMAN		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)	C9J973_HUMAN		2	559	+		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)	UPI0000251E60						SNV	NHLRC3,splice_donor_variant,,ENST00000379600,NM_001012754.3;NHLRC3,splice_donor_variant,,ENST00000470258,;NHLRC3,splice_donor_variant,,ENST00000379599,NM_001017370.2;PROSER1,upstream_gene_variant,,ENST00000352251,NM_025138.4;PROSER1,upstream_gene_variant,,ENST00000350125,;PROSER1,upstream_gene_variant,,ENST00000418503,;NHLRC3,splice_donor_variant,,ENST00000473371,;NHLRC3,upstream_gene_variant,,ENST00000485407,;PROSER1,upstream_gene_variant,,ENST00000602534,;	uc001uxc.2	c.237_splice	-/3549	5	2			c.237_splice						13	SNP	c.e2+1	28	28			skin(1)	1	Broad	NHL repeat containing 3 isoform a			39613426		0.388	ENSG00000188811	10219	g.chr13:39613426G>A		extracellular region								8.586575	KEEP	3	5	-1	21	28	3	5	-1	15.087493	21	28	0.137255	1	0	0	0	0	0	0	0	1	--	--		0	A			C13orf23_uc001uwy.2_5'Flank|C13orf23_uc001uwz.2_5'Flank|NHLRC3_uc001uxa.1_Splice_Site_p.Q79_splice|NHLRC3_uc001uxb.1_Splice_Site_p.Q79_splice|NHLRC3_uc001uxd.2_Splice_Site_p.Q79_splice|NHLRC3_uc001uxe.2_Splice_Site	112	GBM-06-6698-TP	p.Q79_splice	G	CATAGGTCAAGTAAGTAAATA	NM_001012754	NP_001012772	39613426	Q5JS37	NHLC3_HUMAN	0		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)	2	559	+	A	A		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)	Splice_Site							
NHS	0	broad.mit.edu	GRCh37	X	17745612	17745612	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01	TCGA-19-2619-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380060.3:c.3323C>T	p.Pro1108Leu	p.P1108L	ENST00000380060	NM_198270.2	1108	cCg/cTg	0		T:0	1	T:0		T	P/L	uc004cxx.2	protein_coding	YES	CCDS14181.1			3323/4893									skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	c.(3322-3324)CCG>CTG			hmmpanther:PTHR23039:SF5,hmmpanther:PTHR23039	Nance-Horan syndrome protein isoform 1		T:0		ENSP00000369400	T:0	8-Jun									rs779002657,COSM756666,COSM756667	8-Jun	.		ENST00000380060	Transcript	1	T:0.0003		nucleus		ENSG00000188158	g.chrX:17745612C>T	7820			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=NHS_HUMAN&rb=119&re=1628&var=P1108L	NA	getma.org/?cm=var&var=hg19,X,17745612,C,T&fts=all	P1108L	--	--	1																																		NHS_uc011mix.1_Missense_Mutation_p.P1129L|NHS_uc004cxy.2_Missense_Mutation_p.P952L|NHS_uc004cxz.2_Missense_Mutation_p.P931L|NHS_uc004cya.2_Missense_Mutation_p.P831L	0,1,1	1		benign(0.018)	p.P1108L	NM_198270	NP_938011	T:0.001	deleterious(0.03)	0,1,1	NHS_HUMAN	NHS	HGNC	Q6T4R5	NHS_HUMAN					6	3661	+	Hepatocellular(33;0.183)		UPI00001DFBF3	1108					SNV	NHS,missense_variant,p.Pro1108Leu,ENST00000380060,NM_198270.2;NHS,missense_variant,p.Pro952Leu,ENST00000398097,NM_001136024.2;NHS,downstream_gene_variant,,ENST00000485305,;	uc004cxx.2	c.3323C>T	3661/8761	2	2			c.3323C>T						23	SNP	c.(3322-3324)CCG>CTG	34	34			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Broad	Nance-Horan syndrome protein isoform 1			17745612		0.408	ENSG00000188158	10223	g.chrX:17745612C>T		nucleus								349.338204	KEEP	54	60	-1	97	70	54	60	-1	351.298653	97	70	0.40824	1	0	0	0	0	1	0	0	0	--	--		0	T			NHS_uc011mix.1_Missense_Mutation_p.P1129L|NHS_uc004cxy.2_Missense_Mutation_p.P952L|NHS_uc004cxz.2_Missense_Mutation_p.P931L|NHS_uc004cya.2_Missense_Mutation_p.P831L	161	GBM-19-2619-TP	p.P1108L	C	AATCCTCCACCGTCCCTTGCA	NM_198270	NP_938011	17745612	Q6T4R5	NHS_HUMAN	0			6	3661	+	T	T	Hepatocellular(33;0.183)		Missense_Mutation	1108						
NHS	0	broad.mit.edu	GRCh37	X	17743937	17743937	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-32-4208-01	TCGA-32-4208-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380060.3:c.1648A>T	p.Ser550Cys	p.S550C	ENST00000380060	NM_198270.2	550	Agc/Tgc	0			1			T	S/C	uc004cxx.2	protein_coding	YES	CCDS14181.1			1648/4893									skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	c.(1648-1650)AGC>TGC			hmmpanther:PTHR23039:SF5,hmmpanther:PTHR23039,Pfam_domain:PF15273	Nance-Horan syndrome protein isoform 1				ENSP00000369400		8-Jun									COSM3406205,COSM3406206	8-Jun	.		ENST00000380060	Transcript	1			nucleus		ENSG00000188158	g.chrX:17743937A>T	7820			MODERATE		2.395	medium	getma.org/?cm=msa&ty=f&p=NHS_HUMAN&rb=119&re=1628&var=S550C	NA	getma.org/?cm=var&var=hg19,X,17743937,A,T&fts=all	S550C	--	--	1																																		NHS_uc011mix.1_Missense_Mutation_p.S571C|NHS_uc004cxy.2_Missense_Mutation_p.S394C|NHS_uc004cxz.2_Missense_Mutation_p.S373C|NHS_uc004cya.2_Missense_Mutation_p.S273C	1,1	1		probably_damaging(0.999)	p.S550C	NM_198270	NP_938011		deleterious(0)	1,1	NHS_HUMAN	NHS	HGNC	Q6T4R5	NHS_HUMAN					6	1986	+	Hepatocellular(33;0.183)		UPI00001DFBF3	550					SNV	NHS,missense_variant,p.Ser550Cys,ENST00000380060,NM_198270.2;NHS,missense_variant,p.Ser394Cys,ENST00000398097,NM_001136024.2;NHS,downstream_gene_variant,,ENST00000485305,;	uc004cxx.2	c.1648A>T	1986/8761	2	2			c.1648A>T						23	SNP	c.(1648-1650)AGC>TGC	26	26			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Broad	Nance-Horan syndrome protein isoform 1			17743937		0.557	ENSG00000188158	10223	g.chrX:17743937A>T		nucleus								-12.24606	KEEP	3	1	-1	33	51	3	1	-1	6.561783	33	51	0.037037	1	0	0	0	0	1	0	0	0	--	--		0	T			NHS_uc011mix.1_Missense_Mutation_p.S571C|NHS_uc004cxy.2_Missense_Mutation_p.S394C|NHS_uc004cxz.2_Missense_Mutation_p.S373C|NHS_uc004cya.2_Missense_Mutation_p.S273C	243	GBM-32-4208-TP	p.S550C	A	ACATCTTCACAGCCCCCAGCA	NM_198270	NP_938011	17743937	Q6T4R5	NHS_HUMAN	0			6	1986	+	T	T	Hepatocellular(33;0.183)		Missense_Mutation	550						
NHS	4810		GRCh37	X	17745854	17745854	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000380060.3:c.3565A>G	p.Met1189Val	p.M1189V	ENST00000380060	NM_198270.2	1189	Atg/Gtg	0																																																																																																																																																																																																																																												
NICN1	0	broad.mit.edu	GRCh37	3	49463788	49463788	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-19-2629-01	TCGA-19-2629-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273598.3:c.206A>C	p.His69Pro	p.H69P	ENST00000273598	NM_032316.3	69	cAc/cCc	0			1			G	H/P	uc003cwz.1	protein_coding	YES	CCDS2798.1			206/642										0	c.(205-207)CAC>CCC			hmmpanther:PTHR31239	nicolin 1				ENSP00000273598		6-Feb									COSM2156293	6-Feb	.		ENST00000273598	Transcript				microtubule|nucleus		ENSG00000145029	g.chr3:49463788T>G	18317			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=NICN1_HUMAN&rb=1&re=212&var=H69P	NA	getma.org/?cm=var&var=hg19,3,49463788,T,G&fts=all	H69P	--	--	1																																		NICN1_uc003cxa.2_RNA|NICN1_uc011bcr.1_Missense_Mutation_p.H69P	1	1		benign(0.001)	p.H69P	NM_032316	NP_115692		deleterious(0.05)	1	NICN1_HUMAN	NICN1	HGNC	Q9BSH3	NICN1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	B2R7Q3_HUMAN		2	291	-			UPI000007135A	69					SNV	NICN1,missense_variant,p.His69Pro,ENST00000273598,NM_032316.3;NICN1,missense_variant,p.His69Pro,ENST00000436744,;AMT,upstream_gene_variant,,ENST00000273588,NM_000481.3;AMT,upstream_gene_variant,,ENST00000538581,NM_001164711.1;AMT,upstream_gene_variant,,ENST00000395338,NM_001164712.1;AMT,upstream_gene_variant,,ENST00000458307,NM_001164710.1;AMT,upstream_gene_variant,,ENST00000427987,;AMT,upstream_gene_variant,,ENST00000546031,;AMT,upstream_gene_variant,,ENST00000430521,;NICN1-AS1,downstream_gene_variant,,ENST00000424915,;NICN1,non_coding_transcript_exon_variant,,ENST00000422593,;AMT,upstream_gene_variant,,ENST00000476226,;AMT,upstream_gene_variant,,ENST00000480957,;AMT,upstream_gene_variant,,ENST00000487589,;AMT,upstream_gene_variant,,ENST00000485108,;AMT,upstream_gene_variant,,ENST00000493046,;AMT,upstream_gene_variant,,ENST00000462048,;NICN1,missense_variant,p.His69Pro,ENST00000423832,;NICN1,non_coding_transcript_exon_variant,,ENST00000497742,;NICN1,non_coding_transcript_exon_variant,,ENST00000494057,;NICN1,non_coding_transcript_exon_variant,,ENST00000461015,;AMT,upstream_gene_variant,,ENST00000399379,;AMT,upstream_gene_variant,,ENST00000478594,;AMT,upstream_gene_variant,,ENST00000461210,;AMT,upstream_gene_variant,,ENST00000495436,;AMT,upstream_gene_variant,,ENST00000498571,;AMT,upstream_gene_variant,,ENST00000476828,;	uc003cwz.1	c.206A>C	293/2616	3	3			c.206A>C						3	SNP	c.(205-207)CAC>CCC	7	7				0	Broad	nicolin 1			49463788		0.498	ENSG00000145029	10225	g.chr3:49463788T>G		microtubule|nucleus								37.426136	KEEP	7	10	-1	34	21	7	10	-1	42.083305	34	21	0.21875	1	0	0	0	0	1	0	0	0	--	--		0	G			NICN1_uc003cxa.2_RNA|NICN1_uc011bcr.1_Missense_Mutation_p.H69P	166	GBM-19-2629-TP	p.H69P	T	GGCAGGTGTGTGTGCTGAGGT	NM_032316	NP_115692	49463788	Q9BSH3	NICN1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	291	-	G	G			Missense_Mutation	69						
NID1	0	broad.mit.edu	GRCh37	1	236189279	236189279	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs147220938		TCGA-12-5299-01	TCGA-12-5299-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264187.6:c.1901C>T	p.Ser634Leu	p.S634L	ENST00000264187	NM_002508.2	634	tCg/tTg	0	A:0		1			A	S/L	uc001hxo.2	protein_coding	YES	CCDS1608.1			1901/3744									large_intestine(1)|pancreas(1)	2	c.(1900-1902)TCG>TTG			PROSITE_profiles:PS50993,hmmpanther:PTHR10529:SF107,hmmpanther:PTHR10529,Gene3D:2.40.155.10,SMART_domains:SM00682,Superfamily_domains:SSF54511	nidogen 1 precursor	Becaplermin(DB00102)|Urokinase(DB00013)		A:0.0001	ENSP00000264187		20-Aug	4.94E-05					7.49E-05		6.06E-05	rs147220938,COSM2000435	20-Aug	.		ENST00000264187	Transcript			cell-matrix adhesion	basement membrane	calcium ion binding	ENSG00000116962	g.chr1:236189279G>A	7821			MODERATE		2.005	medium	getma.org/?cm=msa&ty=f&p=NID1_HUMAN&rb=430&re=667&var=S634L	getma.org/pdb.php?prot=NID1_HUMAN&from=430&to=667&var=S634L	getma.org/?cm=var&var=hg19,1,236189279,G,A&fts=all	S634L	--	--	1																																		NID1_uc009xgd.2_Missense_Mutation_p.S634L	0,1	1		possibly_damaging(0.784)	p.S634L	NM_002508	NP_002499		deleterious(0)	0,1	NID1_HUMAN	NID1	HGNC	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)				8	2003	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	UPI000013D4D9	634			Nidogen G2 beta-barrel.		SNV	NID1,missense_variant,p.Ser634Leu,ENST00000264187,NM_002508.2;NID1,missense_variant,p.Ser634Leu,ENST00000366595,;	uc001hxo.2	c.1901C>T	1984/5864	2	2			c.1901C>T						1	SNP	c.(1900-1902)TCG>TTG	34	34			large_intestine(1)|pancreas(1)	2	Broad	nidogen 1 precursor		Becaplermin(DB00102)|Urokinase(DB00013)	236189279		0.592	ENSG00000116962	10226	g.chr1:236189279G>A	cell-matrix adhesion	basement membrane	calcium ion binding							441.422155	KEEP	77	86	-1	108	119	77	86	-1	443.269904	108	119	0.421512	1	0	0	0	0	1	0	0	0	--	--		0	A			NID1_uc009xgd.2_Missense_Mutation_p.S634L	130	GBM-12-5299-TP	p.S634L	G	GCTGTCCACCGAGAGCTGCTG	NM_002508	NP_002499	236189279	P14543	NID1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		8	2003	-	A	A	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	Missense_Mutation	634			Nidogen G2 beta-barrel.			
NID2	22795		GRCh37	14	52535489	52535489	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000216286.5:c.224T>C	p.Leu75Pro	p.L75P	ENST00000216286	NM_007361.3	75	cTc/cCc	0																																																																																																																																																																																																																																												
NID2	22795		GRCh37	14	52507433	52507433	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-2510-01	TCGA-28-2510-01																				ENST00000216286.5:c.1962C>T	p.Tyr654=	p.Y654=	ENST00000216286	NM_007361.3	654	taC/taT	0																																																																																																																																																																																																																																												
NIM1K	167359	broad.mit.edu	GRCh37	5	43280335	43280335	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-01	TCGA-06-0190-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000512796.1:c.815G>A	p.Arg272Gln	p.R272Q	ENST00000512796		272	cGg/cAg	0			1			A	R/Q	uc003jno.2	protein_coding		CCDS3943.1			815/1311									lung(4)|ovary(2)|stomach(1)|large_intestine(1)|breast(1)	9	c.(814-816)CGG>CAG			Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF106,PROSITE_profiles:PS50011	serine/threonine-protein kinase NIM1				ENSP00000313572		4-Apr									COSM3410290	4-Apr	.		ENST00000326035	Transcript					ATP binding|magnesium ion binding|protein serine/threonine kinase activity	ENSG00000177453	g.chr5:43280335G>A	28646			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=NIM1_HUMAN&rb=74&re=325&var=R272Q	getma.org/pdb.php?prot=NIM1_HUMAN&from=74&to=325&var=R272Q	getma.org/?cm=var&var=hg19,5,43280335,G,A&fts=all	R272Q	--	--	1																																			1			possibly_damaging(0.658)	p.R272Q	NM_153361	NP_699192		deleterious(0.05)	1	NIM1_HUMAN	NIM1K	HGNC	Q8IY84	NIM1_HUMAN					4	1696	+			UPI0000035B5F	272			Protein kinase.		SNV	NIM1K,missense_variant,p.Arg272Gln,ENST00000512796,;NIM1K,missense_variant,p.Arg272Gln,ENST00000326035,NM_153361.3;	uc003jno.2	c.815G>A	1696/2313	2	2			c.815G>A						5	SNP	c.(814-816)CGG>CAG	43	43			lung(4)|ovary(2)|stomach(1)|large_intestine(1)|breast(1)	9	Broad	serine/threonine-protein kinase NIM1			43280335		0.557	ENSG00000177453	9377	g.chr5:43280335G>A			ATP binding|magnesium ion binding|protein serine/threonine kinase activity			94			94	83.228797	KEEP	14	19	-1	56	56	14	19	-1	91.220326	56	56	0.242424	1	0	0	0	0	1	0	0	0	--	--		0	A				43	GBM-06-0190-TP	p.R272Q	G	ATGCCATTTCGGGCAGAAACC	NM_153361	NP_699192	43280335	Q8IY84	NIM1_HUMAN	0			4	1696	+	A	A			Missense_Mutation	272			Protein kinase.			
NIN	51199	broad.mit.edu	GRCh37	14	51196324	51196324	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs144624455	by1000genomes	TCGA-06-0875-01	TCGA-06-0875-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382041.3:c.5995C>T	p.Arg1999Cys	p.R1999C	ENST00000382041	NM_016350.4	1999	Cgc/Tgc	0		A:0	1	A:0		A	R/C	uc001wym.2	protein_coding	YES	CCDS32079.1			5995/6273	T		PDGFRB		MPD				skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	c.(5995-5997)CGC>TGC			Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg	ninein isoform 5		A:0.003		ENSP00000371472	A:0	29/30	0.000255	9.69E-05		0.00187	0.000153	0.000167		0.000124	rs144624455,COSM2152025,COSM2152026,COSM2152024,COSM3401335	29/30	common_variant		ENST00000382041	Transcript	1	A:0.0008	centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	ENSG00000100503	g.chr14:51196324G>A	14906			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=NIN_HUMAN&rb=621&re=2088&var=R1999C	NA	getma.org/?cm=var&var=hg19,14,51196324,G,A&fts=all	R1999C	--	--	1																																		NIN_uc001wyi.2_Missense_Mutation_p.R1999C|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.R1286C|NIN_uc010tqp.1_Missense_Mutation_p.R2005C|NIN_uc001wyo.2_Missense_Mutation_p.R1999C|NIN_uc001wyn.2_RNA	0,1,1,1,1	1		possibly_damaging(0.471)	p.R1999C	NM_182946	NP_891991	A:0.001	tolerated(0.07)	0,1,1,1,1	NIN_HUMAN	NIN	HGNC	Q8N4C6	NIN_HUMAN			H7C162_HUMAN,E9PJH9_HUMAN		29	6186	-	all_epithelial(31;0.00244)|Breast(41;0.127)		UPI0000DBEF14	1999			Potential.		SNV	NIN,missense_variant,p.Arg1999Cys,ENST00000245441,NM_020921.3;NIN,missense_variant,p.Arg1999Cys,ENST00000530997,;NIN,missense_variant,p.Arg1999Cys,ENST00000453196,NM_182944.2;NIN,missense_variant,p.Arg1999Cys,ENST00000382041,NM_016350.4,NM_182946.1;NIN,missense_variant,p.Arg1490Cys,ENST00000530853,;NIN,missense_variant,p.Arg1490Cys,ENST00000389869,;NIN,missense_variant,p.Arg1286Cys,ENST00000382043,;NIN,3_prime_UTR_variant,,ENST00000389868,;NIN,3_prime_UTR_variant,,ENST00000324330,;NIN,3_prime_UTR_variant,,ENST00000476352,;NIN,3_prime_UTR_variant,,ENST00000485005,;NIN,upstream_gene_variant,,ENST00000555984,;	uc001wym.2	c.5995C>T	6186/6496	2	2			c.5995C>T	T		PDGFRB		MPD	14	SNP	c.(5995-5997)CGC>TGC	29	29			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	Broad	ninein isoform 5			51196324		0.567	ENSG00000100503	10229	g.chr14:51196324G>A	centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			745			745	70.726733	KEEP	14	14	-1	8	12	14	14	-1	71.094216	8	12	0.605263	1	0	0	0	0	1	0	0	0	--	--		0	A			NIN_uc001wyi.2_Missense_Mutation_p.R1999C|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.R1286C|NIN_uc010tqp.1_Missense_Mutation_p.R2005C|NIN_uc001wyo.2_Missense_Mutation_p.R1999C|NIN_uc001wyn.2_RNA	71	GBM-06-0875-TP	p.R1999C	G	AGCAGCTGGCGTTGAAGCTGC	NM_182946	NP_891991	51196324	Q8N4C6	NIN_HUMAN	0			29	6186	-	A	A	all_epithelial(31;0.00244)|Breast(41;0.127)		Missense_Mutation	1999			Potential.			
NIN	0	broad.mit.edu	GRCh37	14	51239167	51239167	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01	TCGA-16-0861-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382041.3:c.833G>A	p.Arg278Gln	p.R278Q	ENST00000382041	NM_016350.4	278	cGa/cAa	0			1			T	R/Q	uc001wym.2	protein_coding	YES	CCDS32079.1			833/6273	T		PDGFRB		MPD				skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	c.(832-834)CGA>CAA			hmmpanther:PTHR18905,hmmpanther:PTHR18905:SF11	ninein isoform 5				ENSP00000371472		30-Sep									COSM3401340,COSM3401342,COSM3401341,COSM3401343	30-Sep	.		ENST00000382041	Transcript	1		centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	ENSG00000100503	g.chr14:51239167C>T	14906			MODERATE		1.78	low	getma.org/?cm=msa&ty=f&p=NIN_HUMAN&rb=201&re=400&var=R278Q	NA	getma.org/?cm=var&var=hg19,14,51239167,C,T&fts=all	R278Q	--	--	1																																		NIN_uc001wyi.2_Missense_Mutation_p.R278Q|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.R278Q|NIN_uc010tqp.1_Missense_Mutation_p.R284Q|NIN_uc001wyo.2_Missense_Mutation_p.R278Q|NIN_uc001wyp.1_Missense_Mutation_p.R240Q	1,1,1,1	1		probably_damaging(0.998)	p.R278Q	NM_182946	NP_891991		deleterious(0)	1,1,1,1	NIN_HUMAN	NIN	HGNC	Q8N4C6	NIN_HUMAN			H7C162_HUMAN,E9PJH9_HUMAN		9	1024	-	all_epithelial(31;0.00244)|Breast(41;0.127)		UPI0000DBEF14	278					SNV	NIN,missense_variant,p.Arg278Gln,ENST00000245441,NM_020921.3;NIN,missense_variant,p.Arg278Gln,ENST00000530997,;NIN,missense_variant,p.Arg278Gln,ENST00000389868,;NIN,missense_variant,p.Arg278Gln,ENST00000453196,NM_182944.2;NIN,missense_variant,p.Arg278Gln,ENST00000324330,;NIN,missense_variant,p.Arg278Gln,ENST00000382041,NM_016350.4,NM_182946.1;NIN,missense_variant,p.Arg278Gln,ENST00000382043,;NIN,missense_variant,p.Arg240Gln,ENST00000453401,;NIN,missense_variant,p.Arg278Gln,ENST00000476352,;NIN,non_coding_transcript_exon_variant,,ENST00000474937,;	uc001wym.2	c.833G>A	1024/6496	1	1			c.833G>A	T		PDGFRB		MPD	14	SNP	c.(832-834)CGA>CAA	1	1			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	Broad	ninein isoform 5			51239167		0.498	ENSG00000100503	10229	g.chr14:51239167C>T	centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			745			745	87.132661	KEEP	13	16	-1	10	10	13	16	-1	87.436798	10	10	0.586957	1	0	0	0	0	1	0	0	0	--	--		0	T			NIN_uc001wyi.2_Missense_Mutation_p.R278Q|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.R278Q|NIN_uc010tqp.1_Missense_Mutation_p.R284Q|NIN_uc001wyo.2_Missense_Mutation_p.R278Q|NIN_uc001wyp.1_Missense_Mutation_p.R240Q	156	GBM-16-0861-TP	p.R278Q	C	TGTGGTACGTCGTCCACTCTC	NM_182946	NP_891991	51239167	Q8N4C6	NIN_HUMAN	0			9	1024	-	T	T	all_epithelial(31;0.00244)|Breast(41;0.127)		Missense_Mutation	278						
NIN	51199		GRCh37	14	51227078	51227078	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000382041.3:c.1897-1G>C		p.X633_splice	ENST00000382041	NM_016350.4	633		0																																																																																																																																																																																																																																												
NIN	51199		GRCh37	14	51239180	51239180	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000382041.3:c.820G>A	p.Asp274Asn	p.D274N	ENST00000382041	NM_016350.4	274	Gat/Aat	0																																																																																																																																																																																																																																												
NIPA1	123606	broad.mit.edu	GRCh37	15	23048832	23048832	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0875-01	TCGA-06-0875-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337435.4:c.987C>A	p.Asp329Glu	p.D329E	ENST00000337435	NM_144599.4	329	gaC/gaA	0			1			T	D/E	uc001yvc.2	protein_coding	YES	CCDS10011.1			987/990										0	c.(985-987)GAC>GAA			hmmpanther:PTHR12570,hmmpanther:PTHR12570:SF17	non-imprinted in Prader-Willi/Angelman syndrome				ENSP00000337452		5-May									COSM2151982	5-May	.		ENST00000337435	Transcript	1		cell death	early endosome|integral to membrane|plasma membrane		ENSG00000170113	g.chr15:23048832G>T	17043			MODERATE		-0.695	neutral	getma.org/?cm=msa&ty=f&p=NIPA1_HUMAN&rb=289&re=329&var=D329E	NA	getma.org/?cm=var&var=hg19,15,23048832,G,T&fts=all	D329E	--	--	1																																		NIPA1_uc001yvd.2_Missense_Mutation_p.D159E|NIPA1_uc001yve.2_Missense_Mutation_p.D254E	1	1		benign(0.024)	p.D329E	NM_144599	NP_653200		tolerated(0.26)	1	NIPA1_HUMAN	NIPA1	HGNC	Q7RTP0	NIPA1_HUMAN		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)	Q3SYP4_HUMAN		5	1012	-		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	UPI00001D9756	329			Cytoplasmic (Potential).		SNV	NIPA1,missense_variant,p.Asp254Glu,ENST00000437912,;NIPA1,missense_variant,p.Asp329Glu,ENST00000337435,NM_144599.4,NM_001142275.1;NIPA1,missense_variant,p.Asp159Glu,ENST00000538684,;NIPA1,missense_variant,p.Asp254Glu,ENST00000561183,;NIPA1,3_prime_UTR_variant,,ENST00000559448,;NIPA1,downstream_gene_variant,,ENST00000557930,;NIPA1,downstream_gene_variant,,ENST00000560069,;	uc001yvc.2	c.987C>A	1012/6567	2	2			c.987C>A						15	SNP	c.(985-987)GAC>GAA	42	42				0	Broad	non-imprinted in Prader-Willi/Angelman syndrome			23048832		0.453	ENSG00000170113	10234	g.chr15:23048832G>T	cell death	early endosome|integral to membrane|plasma membrane								68.631719	KEEP	13	14	0.481481481	35	40	13	14	0.481481481	73.118867	35	40	0.268817	1	0	0	0	0	1	0	0	0	--	--		0	T			NIPA1_uc001yvd.2_Missense_Mutation_p.D159E|NIPA1_uc001yve.2_Missense_Mutation_p.D254E	71	GBM-06-0875-TP	p.D329E	G	TTGCAATCTAGTCTGTTTTCA	NM_144599	NP_653200	23048832	Q7RTP0	NIPA1_HUMAN	0		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)	5	1012	-	T	T		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	Missense_Mutation	329			Cytoplasmic (Potential).			
NIPA2	81614	broad.mit.edu	GRCh37	15	23006662	23006662	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0169-01	TCGA-06-0169-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337451.3:c.642G>A	p.Arg214=	p.R214=	ENST00000337451	NM_030922.6	214	cgG/cgA	0			1			T	R	uc001yux.2	protein_coding	YES	CCDS10010.1			642/1083									haematopoietic_and_lymphoid_tissue(1)	1	c.(640-642)CGG>CGA			hmmpanther:PTHR12570:SF1,hmmpanther:PTHR12570,Pfam_domain:PF05653	non imprinted in Prader-Willi/Angelman syndrome				ENSP00000337618		8-Aug	8.24E-06	9.62E-05							rs769262665,COSM3401627	8-Aug	.		ENST00000337451	Transcript				early endosome|integral to membrane|plasma membrane		ENSG00000140157	g.chr15:23006662C>T	17044			LOW								--	--	1																																		NIPA2_uc001yuy.2_Silent_p.R214R|NIPA2_uc001yuz.2_Silent_p.R214R|NIPA2_uc001yva.2_Silent_p.R195R|NIPA2_uc001yvb.2_Silent_p.R214R|NIPA2_uc010ayb.2_Silent_p.R195R	0,1	1			p.R214R	NM_030922	NP_112184			0,1	NIPA2_HUMAN	NIPA2	HGNC	Q8N8Q9	NIPA2_HUMAN		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)	H0YMQ7_HUMAN		8	1255	-		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	UPI0000070013	214			Extracellular (Potential).		SNV	NIPA2,synonymous_variant,p.=,ENST00000337451,NM_030922.6;NIPA2,synonymous_variant,p.=,ENST00000398014,NM_001008860.2;NIPA2,synonymous_variant,p.=,ENST00000398013,NM_001008892.2;NIPA2,synonymous_variant,p.=,ENST00000359727,NM_001184888.1;NIPA2,synonymous_variant,p.=,ENST00000539711,NM_001008894.2;CYFIP1,downstream_gene_variant,,ENST00000313077,NM_014608.2;CYFIP1,downstream_gene_variant,,ENST00000435939,NM_001033028.1;CYFIP1,downstream_gene_variant,,ENST00000560848,NM_001287810.1;CYFIP1,downstream_gene_variant,,ENST00000561020,;	uc001yux.2	c.642G>A	1255/3233	1	1			c.642G>A						15	SNP	c.(640-642)CGG>CGA	11	11			haematopoietic_and_lymphoid_tissue(1)	1	Broad	non imprinted in Prader-Willi/Angelman syndrome			23006662		0.502	ENSG00000140157	10235	g.chr15:23006662C>T		early endosome|integral to membrane|plasma membrane								-43.885857	KEEP	1	3	-1	100	106	1	3	-1	6.930835	100	106	0.020305	1	0	0	0	0	0	0	1	0	--	--		0	T			NIPA2_uc001yuy.2_Silent_p.R214R|NIPA2_uc001yuz.2_Silent_p.R214R|NIPA2_uc001yva.2_Silent_p.R195R|NIPA2_uc001yvb.2_Silent_p.R214R|NIPA2_uc010ayb.2_Silent_p.R195R	34	GBM-06-0169-TP	p.R214R	C	CCAGGGGATGCCGCAGCACAG	NM_030922	NP_112184	23006662	Q8N8Q9	NIPA2_HUMAN	0		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)	8	1255	-	T	T		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	Silent	214			Extracellular (Potential).			
NIPAL1	0	broad.mit.edu	GRCh37	4	48037778	48037778	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-2528-01	TCGA-27-2528-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295461.5:c.822G>A	p.Pro274=	p.P274=	ENST00000295461	NM_207330.1	274	ccG/ccA	0	T:0	T:0	1	T:0.0014		A	P	uc003gxw.2	protein_coding	YES	CCDS3479.1			822/1233										0	c.(820-822)CCG>CCA			Transmembrane_helices:TMhelix,hmmpanther:PTHR12570:SF13,hmmpanther:PTHR12570,Pfam_domain:PF05653	NIPA-like domain containing 1		T:0	T:0.0006	ENSP00000295461	T:0	6-Jun	8.24E-06					1.50E-05			rs200487407,COSM1055771	6-Jun	.		ENST00000295461	Transcript		T:0.0002		integral to membrane		ENSG00000163293	g.chr4:48037778G>A	27194			LOW								--	--	1																																			0,1	1			p.P274P	NM_207330	NP_997213	T:0		0,1	NIPA3_HUMAN	NIPAL1	HGNC	Q6NVV3	NIPA3_HUMAN					6	888	+			UPI000013E25B	274			Helical; (Potential).		SNV	NIPAL1,synonymous_variant,p.=,ENST00000295461,NM_207330.1;NIPAL1,intron_variant,,ENST00000511123,;NIPAL1,downstream_gene_variant,,ENST00000508180,;NIPAL1,3_prime_UTR_variant,,ENST00000511852,;	uc003gxw.2	c.822G>A	888/5298	2	2			c.822G>A						4	SNP	c.(820-822)CCG>CCA	23	23				0	Broad	NIPA-like domain containing 1			48037778		0.428	ENSG00000163293	10236	g.chr4:48037778G>A		integral to membrane								-17.063977	KEEP	4	3	-1	76	75	4	3	-1	11.792408	76	75	0.045802	1	0	0	0	0	0	0	1	0	--	--		0	A				205	GBM-27-2528-TP	p.P274P	G	ACAAACATCCGCTGGTCTTTG	NM_207330	NP_997213	48037778	Q6NVV3	NIPA3_HUMAN	0			6	888	+	A	A			Silent	274			Helical; (Potential).			
NIPAL1	0	broad.mit.edu	GRCh37	4	48027184	48027184	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-81-5910-01	TCGA-81-5910-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295461.5:c.146T>C	p.Leu49Pro	p.L49P	ENST00000295461	NM_207330.1	49	cTg/cCg	0			1			C	L/P	uc003gxw.2	protein_coding	YES	CCDS3479.1			146/1233										0	c.(145-147)CTG>CCG			hmmpanther:PTHR12570:SF13,hmmpanther:PTHR12570	NIPA-like domain containing 1				ENSP00000295461		6-Feb									COSM3409333	6-Feb	.		ENST00000295461	Transcript				integral to membrane		ENSG00000163293	g.chr4:48027184T>C	27194			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=NIPA3_HUMAN&rb=1&re=63&var=L49P	NA	getma.org/?cm=var&var=hg19,4,48027184,T,C&fts=all	L49P	--	--	1																																			1	1		benign(0.001)	p.L49P	NM_207330	NP_997213		tolerated(0.34)	1	NIPA3_HUMAN	NIPAL1	HGNC	Q6NVV3	NIPA3_HUMAN					2	212	+			UPI000013E25B	49			Extracellular (Potential).		SNV	NIPAL1,missense_variant,p.Leu49Pro,ENST00000295461,NM_207330.1;NIPAL1,missense_variant,p.Leu14Pro,ENST00000511123,;NIPAL1,non_coding_transcript_exon_variant,,ENST00000508180,;NIPAL1,non_coding_transcript_exon_variant,,ENST00000513724,;NIPAL1,missense_variant,p.Leu49Pro,ENST00000511852,;	uc003gxw.2	c.146T>C	212/5298	3	3			c.146T>C						4	SNP	c.(145-147)CTG>CCG	57	57				0	Broad	NIPA-like domain containing 1			48027184		0.438	ENSG00000163293	10236	g.chr4:48027184T>C		integral to membrane								-11.832583	KEEP	1	2	-1	35	52	1	2	-1	7.245011	35	52	0.036585	1	0	0	0	0	1	0	0	0	--	--		0	C				289	GBM-81-5910-TP	p.L49P	T	TACACGGACCTGAATTACAGC	NM_207330	NP_997213	48027184	Q6NVV3	NIPA3_HUMAN	0			2	212	+	C	C			Missense_Mutation	49			Extracellular (Potential).			
NIPAL2	79815	broad.mit.edu	GRCh37	8	99215392	99215392	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs145862248	byFrequency	TCGA-06-0875-01	TCGA-06-0875-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341166.3:c.824C>T	p.Thr275Met	p.T275M	ENST00000341166	NM_024759.1	275	aCg/aTg	0	A:0	A:0.0008	1	A:0		A	T/M	uc003yil.1	protein_coding	YES	CCDS6278.1			824/1107										0	c.(823-825)ACG>ATG			hmmpanther:PTHR12570,hmmpanther:PTHR12570:SF16,Pfam_domain:PF05653	NIPA-like domain containing 2		A:0	A:0.0002	ENSP00000339256	A:0	12-Aug	5.77E-05	0.000384	0.000173			1.50E-05			rs145862248,COSM1102893	12-Aug	.		ENST00000341166	Transcript		A:0.0002		integral to membrane		ENSG00000104361	g.chr8:99215392G>A	25854			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=NPAL2_HUMAN&rb=43&re=336&var=T275M	NA	getma.org/?cm=var&var=hg19,8,99215392,G,A&fts=all	T275M	2.535	medium	1																																		NIPAL2_uc011lgw.1_Missense_Mutation_p.T71M|NIPAL2_uc003yim.1_Missense_Mutation_p.T275M	0,1	1		benign(0.082)	p.T275M	NM_024759	NP_079035	A:0	tolerated(0.13)	0,1	NPAL2_HUMAN	NIPAL2	HGNC	Q9H841	NPAL2_HUMAN					8	1080	-			UPI000007089C	275					SNV	NIPAL2,missense_variant,p.Thr275Met,ENST00000341166,NM_024759.1;NIPAL2,missense_variant,p.Thr275Met,ENST00000430223,;NIPAL2,non_coding_transcript_exon_variant,,ENST00000520545,;NIPAL2,non_coding_transcript_exon_variant,,ENST00000521820,;	uc003yil.1	c.824C>T	1080/4581	2	2			c.824C>T						8	SNP	c.(823-825)ACG>ATG	33	33				0	Broad	NIPA-like domain containing 2			99215392		0.393	ENSG00000104361	10237	g.chr8:99215392G>A		integral to membrane								142.799902	KEEP	29	23	-1	39	46	29	23	-1	143.949085	39	46	0.394958	1	0	0	0	0	1	0	0	0	2.535	medium		0	A			NIPAL2_uc011lgw.1_Missense_Mutation_p.T71M|NIPAL2_uc003yim.1_Missense_Mutation_p.T275M	71	GBM-06-0875-TP	p.T275M	G	CACTGTTGTCGTATTGTAGAG	NM_024759	NP_079035	99215392	Q9H841	NPAL2_HUMAN	0			8	1080	-	A	A			Missense_Mutation	275						
NIPAL4	0	broad.mit.edu	GRCh37	5	156890242	156890242	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-2632-01	TCGA-32-2632-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311946.7:c.364C>G	p.Leu122Val	p.L122V	ENST00000311946	NM_001099287.1	122	Ctg/Gtg	0			1			G	L/V	uc003lwx.3	protein_coding	YES	CCDS47328.1			364/1401										0	c.(364-366)CTG>GTG			Transmembrane_helices:TMhelix,hmmpanther:PTHR12570,hmmpanther:PTHR12570:SF7,Pfam_domain:PF05653	ichthyin protein				ENSP00000311687		6-Feb									COSM3410058,COSM3410057	6-Feb	.		ENST00000311946	Transcript	1			integral to membrane	receptor activity	ENSG00000172548	g.chr5:156890242C>G	28018			MODERATE		1.28	low	getma.org/?cm=msa&ty=f&p=NIPA4_HUMAN&rb=114&re=414&var=L122V	NA	getma.org/?cm=var&var=hg19,5,156890242,C,G&fts=all	L122V	--	--	1																																		ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Missense_Mutation_p.L122V|NIPAL4_uc010jin.1_Silent_p.A56A	1,1	1		benign(0.433)	p.L122V	NM_001099287	NP_001092757		tolerated(0.07)	1,1	NIPA4_HUMAN	NIPAL4	HGNC	Q0D2K0	NIPA4_HUMAN					2	480	+			UPI00001D7EEA	122			Helical; (Potential).		SNV	NIPAL4,missense_variant,p.Leu122Val,ENST00000311946,NM_001099287.1;NIPAL4,missense_variant,p.Leu122Val,ENST00000435489,NM_001172292.1;ADAM19,intron_variant,,ENST00000430702,;CTB-109A12.1,upstream_gene_variant,,ENST00000519499,;NIPAL4,non_coding_transcript_exon_variant,,ENST00000521390,;NIPAL4,non_coding_transcript_exon_variant,,ENST00000519946,;NIPAL4,synonymous_variant,p.=,ENST00000519150,;ADAM19,intron_variant,,ENST00000517951,;	uc003lwx.3	c.364C>G	480/3274	4	4			c.364C>G						5	SNP	c.(364-366)CTG>GTG	22	22				0	Broad	ichthyin protein			156890242		0.577	ENSG00000172548	10239	g.chr5:156890242C>G		integral to membrane	receptor activity							57.476534	KEEP	16	10	-1	34	39	16	10	-1	61.648251	34	39	0.26506	1	0	0	0	0	1	0	0	0	--	--		0	G			ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Missense_Mutation_p.L122V|NIPAL4_uc010jin.1_Silent_p.A56A	240	GBM-32-2632-TP	p.L122V	C	CTACATCGGCCTGGGCCTGGC	NM_001099287	NP_001092757	156890242	Q0D2K0	NIPA4_HUMAN	0			2	480	+	G	G			Missense_Mutation	122			Helical; (Potential).			
NIPBL	25836	broad.mit.edu	GRCh37	5	37051937	37051937	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0122-01	TCGA-06-0122-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282516.8:c.7012del	p.Ala2338LeufsTer8	p.A2338Lfs*8	ENST00000282516	NM_133433.3	2337	aaG/aa	0			1			-	K/X	uc003jkl.3	protein_coding	YES	CCDS3920.1			7011/8415									ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	c.(7009-7011)AAGfs			hmmpanther:PTHR21704,hmmpanther:PTHR21704:SF18,Pfam_domain:PF12830,Superfamily_domains:SSF48371	delangin isoform A				ENSP00000282516		41/47										41/47	.		ENST00000282516	Transcript	1		brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	ENSG00000164190	g.chr5:37051937delG	28862	1		HIGH								--	--	1																																		NIPBL_uc003jkk.3_Frame_Shift_Del_p.K2337fs|NIPBL_uc003jkn.2_Frame_Shift_Del_p.K30fs		1			p.K2337fs	NM_133433	NP_597677				NIPBL_HUMAN	NIPBL	HGNC	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		A2RRA7_HUMAN		41	7510	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		UPI00003761B5	2337			HEAT 5.		deletion	NIPBL,frameshift_variant,p.Ala2338LeufsTer8,ENST00000282516,NM_133433.3,NM_015384.4;NIPBL,frameshift_variant,p.Ala2338LeufsTer8,ENST00000448238,;NIPBL,non_coding_transcript_exon_variant,,ENST00000514335,;	uc003jkl.3	c.7011delG	7510/10435	5	5			c.7011delG						5	DEL	c.(7009-7011)AAGfs	60	60			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	Broad	delangin isoform A			37051937		0.318	ENSG00000164190	10240	g.chr5:37051937delG	brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			934			934														0.17	1	1	0	1	0	0	0	0	0	--	--		0	-			NIPBL_uc003jkk.3_Frame_Shift_Del_p.K2337fs|NIPBL_uc003jkn.2_Frame_Shift_Del_p.K30fs	10	GBM-06-0122-TP	p.K2337fs	G	TGCGGAACAAGGCTGATCAGC	NM_133433	NP_597677	37051937	Q6KC79	NIPBL_HUMAN	0	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		41	7510	+	-	-	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Frame_Shift_Del	2337			HEAT 5.			
NIPBL	25836	broad.mit.edu	GRCh37	5	36984865	36984865	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282516.8:c.1583C>T	p.Thr528Met	p.T528M	ENST00000282516	NM_133433.3	528	aCg/aTg	0		T:0	1	T:0		T	T/M	uc003jkl.3	protein_coding	YES	CCDS3920.1			1583/8415									ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	c.(1582-1584)ACG>ATG			hmmpanther:PTHR21704,hmmpanther:PTHR21704:SF18	delangin isoform A		T:0.001		ENSP00000282516	T:0	Oct-47	3.29E-05		0.000173	0.000116			0.0011		rs574981584,COSM2687787,COSM2687788	Oct-47	.		ENST00000282516	Transcript	1	T:0.0002	brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	ENSG00000164190	g.chr5:36984865C>T	28862			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=NIPBL_HUMAN&rb=401&re=600&var=T528M	NA	getma.org/?cm=var&var=hg19,5,36984865,C,T&fts=all	T528M	--	--	1																																		NIPBL_uc003jkk.3_Missense_Mutation_p.T528M|NIPBL_uc003jkm.1_Missense_Mutation_p.T407M	0,1,1	1		benign(0.033)	p.T528M	NM_133433	NP_597677	T:0	deleterious_low_confidence(0)	0,1,1	NIPBL_HUMAN	NIPBL	HGNC	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		A2RRA7_HUMAN		10	2082	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		UPI00003761B5	528					SNV	NIPBL,missense_variant,p.Thr528Met,ENST00000282516,NM_133433.3,NM_015384.4;NIPBL,missense_variant,p.Thr528Met,ENST00000448238,;NIPBL,non_coding_transcript_exon_variant,,ENST00000504430,;	uc003jkl.3	c.1583C>T	2082/10435	1	1			c.1583C>T						5	SNP	c.(1582-1584)ACG>ATG	5	5			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	Broad	delangin isoform A			36984865		0.448	ENSG00000164190	10240	g.chr5:36984865C>T	brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding		p.T528M(2313287-Tumor)	934		p.T528M(2313287-Tumor)	934	-64.48671	KEEP	2	4	-1	169	169	2	4	-1	9.811762	169	169	0.020761	1	0	0	0	0	1	0	0	0	--	--		0	T			NIPBL_uc003jkk.3_Missense_Mutation_p.T528M|NIPBL_uc003jkm.1_Missense_Mutation_p.T407M	102	GBM-06-5858-TP	p.T528M	C	TCTCAGGAGACGGGTTCTACG	NM_133433	NP_597677	36984865	Q6KC79	NIPBL_HUMAN	0	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		10	2082	+	T	T	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Missense_Mutation	528						
NIPBL	0	broad.mit.edu	GRCh37	5	37064646	37064646	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-19-1790-01	TCGA-19-1790-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282516.8:c.8067A>G	p.Lys2689=	p.K2689=	ENST00000282516	NM_133433.3	2689	aaA/aaG	0			1			G	K	uc003jkl.3	protein_coding	YES	CCDS3920.1			8067/8415									ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	c.(8065-8067)AAA>AAG			Low_complexity_(Seg):seg,hmmpanther:PTHR21704,hmmpanther:PTHR21704:SF18	delangin isoform A				ENSP00000282516		47/47									COSM3410253	47/47	.		ENST00000282516	Transcript	1		brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	ENSG00000164190	g.chr5:37064646A>G	28862			LOW								--	--	1																																		NIPBL_uc003jkk.3_3'UTR|NIPBL_uc003jkn.2_3'UTR	1	1			p.K2689K	NM_133433	NP_597677			1	NIPBL_HUMAN	NIPBL	HGNC	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		A2RRA7_HUMAN		47	8566	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		UPI00003761B5	2689					SNV	NIPBL,synonymous_variant,p.=,ENST00000282516,NM_133433.3,NM_015384.4;NIPBL,downstream_gene_variant,,ENST00000448238,;NIPBL,downstream_gene_variant,,ENST00000513819,;NIPBL,non_coding_transcript_exon_variant,,ENST00000514335,;	uc003jkl.3	c.8067A>G	8566/10435	3	3			c.8067A>G						5	SNP	c.(8065-8067)AAA>AAG	7	7			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	Broad	delangin isoform A			37064646		0.378	ENSG00000164190	10240	g.chr5:37064646A>G	brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			934			934	41.431363	KEEP	14	6	-1	78	48	14	6	-1	58.481086	78	48	0.139706	1	0	0	0	0	0	0	1	0	--	--		0	G			NIPBL_uc003jkk.3_3'UTR|NIPBL_uc003jkn.2_3'UTR	160	GBM-19-1790-TP	p.K2689K	A	GAAGGTCAAAACGAAATTCAG	NM_133433	NP_597677	37064646	Q6KC79	NIPBL_HUMAN	0	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		47	8566	+	G	G	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Silent	2689						
NIPBL	0	broad.mit.edu	GRCh37	5	37064969	37064969	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5134-01	TCGA-26-5134-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282516.8:c.8390C>T	p.Ala2797Val	p.A2797V	ENST00000282516	NM_133433.3	2797	gCc/gTc	0			1			T	A/V	uc003jkl.3	protein_coding	YES	CCDS3920.1			8390/8415									ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	c.(8389-8391)GCC>GTC				delangin isoform A				ENSP00000282516		47/47									COSM3410254	47/47	.		ENST00000282516	Transcript	1		brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	ENSG00000164190	g.chr5:37064969C>T	28862			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=NIPBL_HUMAN&rb=2658&re=2804&var=A2797V	NA	getma.org/?cm=var&var=hg19,5,37064969,C,T&fts=all	A2797V	--	--	1																																		NIPBL_uc003jkk.3_3'UTR|NIPBL_uc003jkn.2_3'UTR	1	1		probably_damaging(0.997)	p.A2797V	NM_133433	NP_597677		deleterious_low_confidence(0)	1	NIPBL_HUMAN	NIPBL	HGNC	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		A2RRA7_HUMAN		47	8889	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		UPI00003761B5	2797					SNV	NIPBL,missense_variant,p.Ala2797Val,ENST00000282516,NM_133433.3,NM_015384.4;NIPBL,downstream_gene_variant,,ENST00000448238,;NIPBL,downstream_gene_variant,,ENST00000513819,;NIPBL,non_coding_transcript_exon_variant,,ENST00000514335,;	uc003jkl.3	c.8390C>T	8889/10435	2	2			c.8390C>T						5	SNP	c.(8389-8391)GCC>GTC	41	41			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	Broad	delangin isoform A			37064969		0.358	ENSG00000164190	10240	g.chr5:37064969C>T	brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			934			934	-32.788293	KEEP	2	2	-1	93	84	2	2	-1	6.622296	93	84	0.025316	1	0	0	0	0	1	0	0	0	--	--		0	T			NIPBL_uc003jkk.3_3'UTR|NIPBL_uc003jkn.2_3'UTR	183	GBM-26-5134-TP	p.A2797V	C	TCCCTGTATGCCGCCAAGGAT	NM_133433	NP_597677	37064969	Q6KC79	NIPBL_HUMAN	0	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		47	8889	+	T	T	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Missense_Mutation	2797						
NISCH	11188	broad.mit.edu	GRCh37	3	52525480	52525480	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5413-01	TCGA-06-5413-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345716.4:c.3855G>A	p.Pro1285=	p.P1285=	ENST00000345716	NM_007184.3	1285	ccG/ccA	0			1			A	P	uc011beg.1	protein_coding	YES	CCDS33767.1			3855/4515									ovary(3)|central_nervous_system(1)	4	c.(3853-3855)CCG>CCA			hmmpanther:PTHR15454:SF7,hmmpanther:PTHR15454	nischarin				ENSP00000339958		20/21	3.29E-05			0.000116		4.58E-05			rs761604637,COSM2153193	20/21	.		ENST00000345716	Transcript			apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	ENSG00000010322	g.chr3:52525480G>A	18006			LOW								--	--	1																																		NISCH_uc003ded.3_Silent_p.P1285P|NISCH_uc003dee.3_Silent_p.P774P|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_Silent_p.P34P	0,1	1			p.P1285P	NM_007184	NP_009115			0,1	NISCH_HUMAN	NISCH	HGNC	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)			21	3927	+			UPI000036715D	1285					SNV	NISCH,synonymous_variant,p.=,ENST00000345716,NM_007184.3;NISCH,synonymous_variant,p.=,ENST00000479054,;STAB1,upstream_gene_variant,,ENST00000321725,NM_015136.2;NISCH,downstream_gene_variant,,ENST00000488243,;NISCH,non_coding_transcript_exon_variant,,ENST00000489895,;NISCH,non_coding_transcript_exon_variant,,ENST00000467594,;STAB1,upstream_gene_variant,,ENST00000481607,;STAB1,upstream_gene_variant,,ENST00000479355,;NISCH,downstream_gene_variant,,ENST00000460759,;	uc011beg.1	c.3855G>A	3989/5238	2	2			c.3855G>A						3	SNP	c.(3853-3855)CCG>CCA	43	43			ovary(3)|central_nervous_system(1)	4	Broad	nischarin			52525480		0.602	ENSG00000010322	10244	g.chr3:52525480G>A	apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity							89.725846	KEEP	12	16	-1	13	19	12	16	-1	89.729726	13	19	0.490909	1	0	0	0	0	0	0	1	0	--	--		0	A			NISCH_uc003ded.3_Silent_p.P1285P|NISCH_uc003dee.3_Silent_p.P774P|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_Silent_p.P34P	96	GBM-06-5413-TP	p.P1285P	G	CGCCCTCGCCGGAGCCTGTTG	NM_007184	NP_009115	52525480	Q9Y2I1	NISCH_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	21	3927	+	A	A			Silent	1285						
NISCH	0	broad.mit.edu	GRCh37	3	52521957	52521957	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01	TCGA-26-5135-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345716.4:c.2449G>A	p.Ala817Thr	p.A817T	ENST00000345716	NM_007184.3	817	Gcc/Acc	0			1			A	A/T	uc011beg.1	protein_coding	YES	CCDS33767.1			2449/4515									ovary(3)|central_nervous_system(1)	4	c.(2449-2451)GCC>ACC			hmmpanther:PTHR15454:SF7,hmmpanther:PTHR15454	nischarin				ENSP00000339958		16/21									COSM3408792	16/21	.		ENST00000345716	Transcript			apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	ENSG00000010322	g.chr3:52521957G>A	18006			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=NISCH_HUMAN&rb=474&re=1502&var=A817T	NA	getma.org/?cm=var&var=hg19,3,52521957,G,A&fts=all	A817T	--	--	1																																		NISCH_uc003ded.3_Missense_Mutation_p.A817T|NISCH_uc003dee.3_Missense_Mutation_p.A306T|NISCH_uc003deg.1_RNA	1	1		benign(0.374)	p.A817T	NM_007184	NP_009115		tolerated(0.07)	1	NISCH_HUMAN	NISCH	HGNC	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)			17	2521	+			UPI000036715D	817			Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity).		SNV	NISCH,missense_variant,p.Ala817Thr,ENST00000345716,NM_007184.3;NISCH,missense_variant,p.Ala817Thr,ENST00000479054,;NISCH,downstream_gene_variant,,ENST00000488243,;NISCH,non_coding_transcript_exon_variant,,ENST00000489895,;NISCH,upstream_gene_variant,,ENST00000467594,;NISCH,downstream_gene_variant,,ENST00000460759,;NISCH,downstream_gene_variant,,ENST00000485765,;	uc011beg.1	c.2449G>A	2583/5238	1	1			c.2449G>A						3	SNP	c.(2449-2451)GCC>ACC	55	55			ovary(3)|central_nervous_system(1)	4	Broad	nischarin			52521957		0.622	ENSG00000010322	10244	g.chr3:52521957G>A	apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity							-3.73995	KEEP	2	1	-1	26	25	2	1	-1	6.857312	26	25	0.057692	1	0	0	0	0	1	0	0	0	--	--		0	A			NISCH_uc003ded.3_Missense_Mutation_p.A817T|NISCH_uc003dee.3_Missense_Mutation_p.A306T|NISCH_uc003deg.1_RNA	184	GBM-26-5135-TP	p.A817T	G	CCAGCACATGGCCATGCTGTG	NM_007184	NP_009115	52521957	Q9Y2I1	NISCH_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	17	2521	+	A	A			Missense_Mutation	817			Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity).			
NISCH	0	broad.mit.edu	GRCh37	3	52521429	52521440	+	inframe_deletion	In_Frame_Del	DEL	GAGGAGGAGGAA	GAGGAGGAGGAA	-			TCGA-32-2634-01	TCGA-32-2634-01	GAGGAGGAGGAA	GAGGAGGAGGAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345716.4:c.1923_1934delGGAGGAGGAAGA	p.Glu644_Glu647del	p.E644_E647del	ENST00000345716	NM_007184.3	641	GAGGAGGAGGAA/-	0			1			-	EEEE/-	uc011beg.1	protein_coding	YES	CCDS33767.1			1921-1932/4515									ovary(3)|central_nervous_system(1)	4	c.(1921-1932)GAGGAGGAGGAAdel			Low_complexity_(Seg):seg,hmmpanther:PTHR15454:SF7,hmmpanther:PTHR15454	nischarin				ENSP00000339958		16/21										16/21	.		ENST00000345716	Transcript			apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	ENSG00000010322	g.chr3:52521429_52521440delGAGGAGGAGGAA	18006	2		MODERATE								--	--	1																																		NISCH_uc003ded.3_In_Frame_Del_p.EEEE641del|NISCH_uc003dee.3_In_Frame_Del_p.EEEE130del|NISCH_uc003deg.1_RNA		1			p.EEEE641del	NM_007184	NP_009115				NISCH_HUMAN	NISCH	HGNC	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)			17	1993_2004	+			UPI000036715D	641_644			Necessary for homooligomerization and targeting to endosomes.|Potential.|Glu-rich.|Interaction with PAK1 (By similarity).		deletion	NISCH,inframe_deletion,p.Glu644_Glu647del,ENST00000345716,NM_007184.3;NISCH,inframe_deletion,p.Glu644_Glu647del,ENST00000479054,;NISCH,non_coding_transcript_exon_variant,,ENST00000488243,;NISCH,non_coding_transcript_exon_variant,,ENST00000489895,;NISCH,upstream_gene_variant,,ENST00000467594,;NISCH,downstream_gene_variant,,ENST00000460759,;NISCH,downstream_gene_variant,,ENST00000485765,;	uc011beg.1	c.1921_1932delGAGGAGGAGGAA	2055-2066/5238	5	5			c.1921_1932delGAGGAGGAGGAA						3	DEL	c.(1921-1932)GAGGAGGAGGAAdel	43	43			ovary(3)|central_nervous_system(1)	4	Broad	nischarin			52521440		0.406	ENSG00000010322	10244	g.chr3:52521429_52521440delGAGGAGGAGGAA	apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity																				0.34	1	1	0	1	0	0	0	0	0	--	--		0	-			NISCH_uc003ded.3_In_Frame_Del_p.EEEE641del|NISCH_uc003dee.3_In_Frame_Del_p.EEEE130del|NISCH_uc003deg.1_RNA	241	GBM-32-2634-TP	p.EEEE641del	GAGGAGGAGGAA	ggaggaggatgaggaggaggaagaagaggagg	NM_007184	NP_009115	52521429	Q9Y2I1	NISCH_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	17	1993_2004	+	-	-			In_Frame_Del	641_644			Necessary for homooligomerization and targeting to endosomes.|Potential.|Glu-rich.|Interaction with PAK1 (By similarity).			
NIT2	0	broad.mit.edu	GRCh37	3	100057936	100057936	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01	TCGA-27-2523-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394140.4:c.13C>T	p.Arg5Cys	p.R5C	ENST00000394140	NM_020202.4	5	Cgc/Tgc	0		T:0	1	T:0.0029		T	R/C	uc003dtv.2	protein_coding	YES	CCDS33806.1			13/831									ovary(1)	1	c.(13-15)CGC>TGC			PROSITE_profiles:PS50263,hmmpanther:PTHR23088:SF20,hmmpanther:PTHR23088,Gene3D:3.60.110.10,Pfam_domain:PF00795,Superfamily_domains:SSF56317	nitrilase family, member 2		T:0		ENSP00000377696	T:0	10-Feb	1.65E-05		0.000173						rs183950946,COSM3408063	10-Feb	.		ENST00000394140	Transcript		T:0.0004	nitrogen compound metabolic process		omega-amidase activity	ENSG00000114021	g.chr3:100057936C>T	29878			MODERATE		2.95	medium	getma.org/?cm=msa&ty=f&p=NIT2_HUMAN&rb=5&re=178&var=R5C	getma.org/pdb.php?prot=NIT2_HUMAN&from=5&to=178&var=R5C	getma.org/?cm=var&var=hg19,3,100057936,C,T&fts=all	R5C	--	--	1																																		NIT2_uc011bha.1_Missense_Mutation_p.R5C	0,1	1		probably_damaging(0.985)	p.R5C	NM_020202	NP_064587	T:0	deleterious(0)	0,1	NIT2_HUMAN	NIT2	HGNC	Q9NQR4	NIT2_HUMAN					2	87	+			UPI000004A5A7	5			CN hydrolase.		SNV	NIT2,missense_variant,p.Arg5Cys,ENST00000394140,NM_020202.4;NIT2,missense_variant,p.Arg99Cys,ENST00000497785,;NIT2,missense_variant,p.Arg5Cys,ENST00000480073,;NIT2,3_prime_UTR_variant,,ENST00000460317,;NIT2,non_coding_transcript_exon_variant,,ENST00000478856,;NIT2,non_coding_transcript_exon_variant,,ENST00000465368,;NIT2,upstream_gene_variant,,ENST00000472392,;	uc003dtv.2	c.13C>T	104/2520	1	1			c.13C>T						3	SNP	c.(13-15)CGC>TGC	5	5			ovary(1)	1	Broad	nitrilase family, member 2			100057936		0.403	ENSG00000114021	10246	g.chr3:100057936C>T	nitrogen compound metabolic process		omega-amidase activity							528.650342	KEEP	92	90	-1	95	117	92	90	-1	529.136776	95	117	0.46	1	0	0	0	0	1	0	0	0	--	--		0	T			NIT2_uc011bha.1_Missense_Mutation_p.R5C	201	GBM-27-2523-TP	p.R5C	C	CTCAGCTTTCCGCTTGGCCCT	NM_020202	NP_064587	100057936	Q9NQR4	NIT2_HUMAN	0			2	87	+	T	T			Missense_Mutation	5			CN hydrolase.			
NKAIN2	0	broad.mit.edu	GRCh37	6	124979424	124979424	+	synonymous_variant	Silent	SNP	T	T	A			TCGA-32-2638-01	TCGA-32-2638-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368417.1:c.366T>A	p.Pro122=	p.P122=	ENST00000368417	NM_001040214.1	122	ccT/ccA	0			1			A	P	uc003pzo.2	protein_coding	YES	CCDS34526.1			366/627										0	c.(364-366)CCT>CCA			hmmpanther:PTHR13084,Pfam_domain:PF05640	T-cell lymphoma breakpoint-associated target 1				ENSP00000357402		7-Apr									COSM3410566,COSM3410567	7-Apr	.		ENST00000368417	Transcript				integral to membrane|plasma membrane		ENSG00000188580	g.chr6:124979424T>A	16443			LOW								--	--	1																																		NKAIN2_uc003pzn.1_Silent_p.P122P|NKAIN2_uc003pzp.2_Silent_p.P121P|NKAIN2_uc010keq.2_Intron|NKAIN2_uc010ker.2_Silent_p.P32P	1,1	1			p.P122P	NM_001040214	NP_001035304			1,1	NKAI2_HUMAN	NKAIN2	HGNC	Q5VXU1	NKAI2_HUMAN		GBM - Glioblastoma multiforme(226;0.104)	B3KNZ0_HUMAN,B0AZU5_HUMAN		4	643	+			UPI0000458919	122					SNV	NKAIN2,synonymous_variant,p.=,ENST00000368417,NM_001040214.1;NKAIN2,synonymous_variant,p.=,ENST00000368416,;NKAIN2,synonymous_variant,p.=,ENST00000545433,;NKAIN2,intron_variant,,ENST00000546092,;	uc003pzo.2	c.366T>A	426/3115	2	2			c.366T>A						6	SNP	c.(364-366)CCT>CCA	24	24				0	Broad	T-cell lymphoma breakpoint-associated target 1			124979424		0.502	ENSG00000188580	10248	g.chr6:124979424T>A		integral to membrane|plasma membrane								107.466601	KEEP	18	23	-1	44	36	18	23	-1	110.504294	44	36	0.324324	1	0	0	0	0	0	0	1	0	--	--		0	A			NKAIN2_uc003pzn.1_Silent_p.P122P|NKAIN2_uc003pzp.2_Silent_p.P121P|NKAIN2_uc010keq.2_Intron|NKAIN2_uc010ker.2_Silent_p.P32P	242	GBM-32-2638-TP	p.P122P	T	CAGTGACACCTGCCCCAGACT	NM_001040214	NP_001035304	124979424	Q5VXU1	NKAI2_HUMAN	0		GBM - Glioblastoma multiforme(226;0.104)	4	643	+	A	A			Silent	122						
NKAIN3	0	broad.mit.edu	GRCh37	8	63659690	63659691	+	splice_region_variant,intron_variant	Splice_Region	INS	-	-	A			TCGA-06-6700-01	TCGA-06-6700-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000523211.1:c.471+4dupA		p.X157_splice	ENST00000523211	NM_173688.2			0			1			A		uc010lyq.1	protein_coding	YES	CCDS55239.1			-/594										0	c.e4+2				Na+/K+ transporting ATPase interacting 3				ENSP00000429073													.		ENST00000523211	Transcript				integral to membrane|plasma membrane		ENSG00000185942	g.chr8:63659690_63659691insA	26829	2		LOW	6-Apr							--	--	1																																				1			p.S157_splice	NM_173688	NP_775959				NKAI3_HUMAN	NKAIN3	HGNC	Q8N8D7	NKAI3_HUMAN					4	603	+	Breast(64;0.127)	Lung NSC(129;0.187)	UPI000006F596						insertion	NKAIN3,splice_region_variant,,ENST00000523211,NM_173688.2;NKAIN3,splice_region_variant,,ENST00000328472,;NKAIN3,downstream_gene_variant,,ENST00000524201,;NKAIN3,splice_region_variant,,ENST00000519049,;NKAIN3,splice_region_variant,,ENST00000523367,;	uc010lyq.1	c.471_splice	-/1988	5	5			c.471_splice						8	INS	c.e4+2	52	52				0	Broad	Na+/K+ transporting ATPase interacting 3			63659691		0.441	ENSG00000185942	10249	g.chr8:63659690_63659691insA		integral to membrane|plasma membrane																					0.3	1	0	0	1	1	0	0	0	1	--	--		0	A				114	GBM-06-6700-TP	p.S157_splice	-	CTACTCTCTGTAAGTGTCACTT	NM_173688	NP_775959	63659690	Q8N8D7	NKAI3_HUMAN	0			4	603	+	A	A	Breast(64;0.127)	Lung NSC(129;0.187)	Splice_Site							
NKAPL	0	broad.mit.edu	GRCh37	6	28227813	28227813	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-6450-01	TCGA-28-6450-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343684.3:c.664A>G	p.Arg222Gly	p.R222G	ENST00000343684	NM_001007531.2	222	Aga/Gga	0			1			G	R/G	uc003nkt.2	protein_coding	YES	CCDS34353.1			664/1209									upper_aerodigestive_tract(1)|ovary(1)	2	c.(664-666)AGA>GGA			Low_complexity_(Seg):seg,hmmpanther:PTHR13087,hmmpanther:PTHR13087:SF3	NFKB activating protein-like				ENSP00000345716		1-Jan									COSM3410867	1-Jan	.		ENST00000343684	Transcript						ENSG00000189134	g.chr6:28227813A>G	21584			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=NKAPL_HUMAN&rb=201&re=290&var=R222G	NA	getma.org/?cm=var&var=hg19,6,28227813,A,G&fts=all	R222G	--	--	1																																		ZKSCAN4_uc011dlb.1_5'Flank	1	1		unknown(0)	p.R222G	NM_001007531	NP_001007532		tolerated(0.09)	1	NKAPL_HUMAN	NKAPL	HGNC	Q5M9Q1	NKAPL_HUMAN					1	716	+			UPI0000072A86	222			Lys-rich.		SNV	NKAPL,missense_variant,p.Arg222Gly,ENST00000343684,NM_001007531.2;ZKSCAN4,upstream_gene_variant,,ENST00000423974,;	uc003nkt.2	c.664A>G	716/1639	3	3			c.664A>G						6	SNP	c.(664-666)AGA>GGA	4	4			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	NFKB activating protein-like			28227813		0.254	ENSG00000189134	10252	g.chr6:28227813A>G										52.317471	KEEP	7	8	-1	14	10	7	8	-1	52.772198	14	10	0.384615	1	0	0	0	0	1	0	0	0	--	--		0	G			ZKSCAN4_uc011dlb.1_5'Flank	227	GBM-28-6450-TP	p.R222G	A	TGATAAAAAGAGAGTTAAAGC	NM_001007531	NP_001007532	28227813	Q5M9Q1	NKAPL_HUMAN	0			1	716	+	G	G			Missense_Mutation	222			Lys-rich.			
NKAPL	0	broad.mit.edu	GRCh37	6	28228340	28228340	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-41-4097-01	TCGA-41-4097-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343684.3:c.1191A>G	p.Lys397=	p.K397=	ENST00000343684	NM_001007531.2	397	aaA/aaG	0			1			G	K	uc003nkt.2	protein_coding	YES	CCDS34353.1			1191/1209									upper_aerodigestive_tract(1)|ovary(1)	2	c.(1189-1191)AAA>AAG			hmmpanther:PTHR13087,hmmpanther:PTHR13087:SF3	NFKB activating protein-like				ENSP00000345716		1-Jan									COSM3410868	1-Jan	.		ENST00000343684	Transcript						ENSG00000189134	g.chr6:28228340A>G	21584			LOW								--	--	1																																		ZKSCAN4_uc011dlb.1_5'Flank	1	1			p.K397K	NM_001007531	NP_001007532			1	NKAPL_HUMAN	NKAPL	HGNC	Q5M9Q1	NKAPL_HUMAN					1	1243	+			UPI0000072A86	397					SNV	NKAPL,synonymous_variant,p.=,ENST00000343684,NM_001007531.2;ZKSCAN4,upstream_gene_variant,,ENST00000423974,;	uc003nkt.2	c.1191A>G	1243/1639	3	3			c.1191A>G						6	SNP	c.(1189-1191)AAA>AAG	7	7			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	NFKB activating protein-like			28228340		0.368	ENSG00000189134	10252	g.chr6:28228340A>G										-7.238926	KEEP	2	1	-1	40	43	2	1	-1	8.734891	40	43	0.042254	1	0	0	0	0	0	0	1	0	--	--		0	G			ZKSCAN4_uc011dlb.1_5'Flank	257	GBM-41-4097-TP	p.K397K	A	AAAAGACAAAAGAGAAAGATG	NM_001007531	NP_001007532	28228340	Q5M9Q1	NKAPL_HUMAN	0			1	1243	+	G	G			Silent	397						
NKD1	0	broad.mit.edu	GRCh37	16	50664787	50664787	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01	TCGA-19-5958-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268459.3:c.661C>T	p.Arg221Trp	p.R221W	ENST00000268459	NM_033119.4	221	Cgg/Tgg	0			1			T	R/W	uc002egg.1	protein_coding	YES	CCDS10743.1			661/1413										0	c.(661-663)CGG>TGG			hmmpanther:PTHR22611,hmmpanther:PTHR22611:SF2	naked cuticle homolog 1				ENSP00000268459		10-Aug	3.30E-05			0.000223				0.0002	rs753083072,COSM2156828	10-Aug	.		ENST00000268459	Transcript			Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	ENSG00000140807	g.chr16:50664787C>T	17045			MODERATE		2.445	medium	getma.org/?cm=msa&ty=f&p=NKD1_HUMAN&rb=7&re=468&var=R221W	NA	getma.org/?cm=var&var=hg19,16,50664787,C,T&fts=all	R221W	--	--	1																																			0,1	1		probably_damaging(1)	p.R221W	NM_033119	NP_149110		deleterious(0)	0,1	NKD1_HUMAN	NKD1	HGNC	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)			8	885	+		all_cancers(37;0.229)	UPI0000073F02	221					SNV	NKD1,missense_variant,p.Arg221Trp,ENST00000268459,NM_033119.4;NKD1,non_coding_transcript_exon_variant,,ENST00000566396,;	uc002egg.1	c.661C>T	885/4592	1	1			c.661C>T						16	SNP	c.(661-663)CGG>TGG	11	11				0	Broad	naked cuticle homolog 1			50664787		0.612	ENSG00000140807	10253	g.chr16:50664787C>T	Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding							15.272837	KEEP	2	4	-1	2	8	2	4	-1	15.345611	2	8	0.416667	1	0	0	0	0	1	0	0	0	--	--		0	T				176	GBM-19-5958-TP	p.R221W	C	TGAGGACCTGCGGAGCTGGGA	NM_033119	NP_149110	50664787	Q969G9	NKD1_HUMAN	0		GBM - Glioblastoma multiforme(240;0.243)	8	885	+	T	T		all_cancers(37;0.229)	Missense_Mutation	221						
NKD2	0	broad.mit.edu	GRCh37	5	1033572	1033572	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-14-1825-01	TCGA-14-1825-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296849.5:c.288C>G	p.Arg96=	p.R96=	ENST00000296849	NM_033120.3	96	cgC/cgG	0			1			G	R	uc003jbt.1	protein_coding	YES	CCDS3859.1			288/1356										0	c.(286-288)CGC>CGG			hmmpanther:PTHR22611,hmmpanther:PTHR22611:SF1	naked cuticle homolog 2				ENSP00000296849		10-May									COSM3409653,COSM3409654	10-May	.		ENST00000296849	Transcript			exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	ENSG00000145506	g.chr5:1033572C>G	17046			LOW								--	--	1																																		NKD2_uc010itf.1_Silent_p.R96R	1,1	1			p.R96R	NM_033120	NP_149111			1,1	NKD2_HUMAN	NKD2	HGNC	Q969F2	NKD2_HUMAN	Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)				5	293	+	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		UPI0000073E19	96			Targeting to the basolateral cell membrane.		SNV	NKD2,synonymous_variant,p.=,ENST00000296849,NM_033120.3;NKD2,synonymous_variant,p.=,ENST00000274150,NM_001271082.1;NKD2,synonymous_variant,p.=,ENST00000537972,;NKD2,upstream_gene_variant,,ENST00000382730,;NKD2,upstream_gene_variant,,ENST00000513296,;NKD2,upstream_gene_variant,,ENST00000523688,;NKD2,upstream_gene_variant,,ENST00000519933,;	uc003jbt.1	c.288C>G	517/2155	4	4			c.288C>G						5	SNP	c.(286-288)CGC>CGG	20	20				0	Broad	naked cuticle homolog 2			1033572		0.692	ENSG00000145506	10254	g.chr5:1033572C>G	exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			126			126	9.222935	KEEP	2	1	-1	1	3	2	1	-1	9.254208	1	3	0.428571	1	0	0	0	0	0	0	1	0	--	--		0	G			NKD2_uc010itf.1_Silent_p.R96R	148	GBM-14-1825-TP	p.R96R	C	CAGCAAACCGCGAGGGCCCGC	NM_033120	NP_149111	1033572	Q969F2	NKD2_HUMAN	0	Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)		5	293	+	G	G	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Silent	96			Targeting to the basolateral cell membrane.			
NKG7	0	broad.mit.edu	GRCh37	19	51875671	51875671	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1986-01	TCGA-32-1986-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221978.5:c.119C>T	p.Ser40Leu	p.S40L	ENST00000221978	NM_005601.3	40	tCg/tTg	0			1			A	S/L	uc002pwj.2	protein_coding	YES	CCDS12830.1			119/498									central_nervous_system(1)	1	c.(118-120)TCG>TTG			Pfam_domain:PF00822,PROSITE_patterns:PS01221,hmmpanther:PTHR10671,hmmpanther:PTHR10671:SF34	natural killer cell group 7 sequence				ENSP00000221978		4-Jan	8.24E-06					1.50E-05			rs746182894,COSM3404501	4-Jan	.		ENST00000221978	Transcript				integral to plasma membrane		ENSG00000105374	g.chr19:51875671G>A	7830			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=NKG7_HUMAN&rb=1&re=150&var=S40L	NA	getma.org/?cm=var&var=hg19,19,51875671,G,A&fts=all	S40L	--	--	1																																		NKG7_uc002pwk.2_Missense_Mutation_p.S40L	0,1	1		probably_damaging(0.988)	p.S40L	NM_005601	NP_005592		deleterious(0)	0,1	NKG7_HUMAN	NKG7	HGNC	Q16617	NKG7_HUMAN		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)			1	290	-		all_neural(266;0.0199)	UPI00001301FE	40					SNV	NKG7,missense_variant,p.Ser40Leu,ENST00000221978,NM_005601.3;NKG7,missense_variant,p.Ser40Leu,ENST00000595217,;NKG7,missense_variant,p.Ser40Leu,ENST00000600427,;CLDND2,upstream_gene_variant,,ENST00000291715,NM_152353.2;CLDND2,upstream_gene_variant,,ENST00000601435,;CLDND2,upstream_gene_variant,,ENST00000593841,;NKG7,upstream_gene_variant,,ENST00000593572,;NKG7,upstream_gene_variant,,ENST00000595157,;CTD-2616J11.11,upstream_gene_variant,,ENST00000600067,;	uc002pwj.2	c.119C>T	299/843	2	2			c.119C>T						19	SNP	c.(118-120)TCG>TTG	26	26			central_nervous_system(1)	1	Broad	natural killer cell group 7 sequence			51875671		0.607	ENSG00000105374	10255	g.chr19:51875671G>A		integral to plasma membrane								160.609362	KEEP	26	45	-1	83	87	26	45	-1	169.942928	83	87	0.281106	1	0	0	0	0	1	0	0	0	--	--		0	A			NKG7_uc002pwk.2_Missense_Mutation_p.S40L	233	GBM-32-1986-TP	p.S40L	G	CCAGAGGCCCGAGTGAGCTGA	NM_005601	NP_005592	51875671	Q16617	NKG7_HUMAN	0		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	290	-	A	A		all_neural(266;0.0199)	Missense_Mutation	40						
NKIRAS1	0	broad.mit.edu	GRCh37	3	23942514	23942514	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-1823-01	TCGA-14-1823-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388759.3:c.121G>T	p.Asp41Tyr	p.D41Y	ENST00000388759		41	Gat/Tat	0			1			A	D/Y	uc003ccj.2	protein_coding		CCDS33717.1			121/579										0	c.(121-123)GAT>TAT			PROSITE_profiles:PS51419,hmmpanther:PTHR24070:SF214,hmmpanther:PTHR24070,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,SMART_domains:SM00173,SMART_domains:SM00175,Superfamily_domains:SSF52540	kappa B-ras 1				ENSP00000373411		5-Apr									COSM3408563	5-Apr	.		ENST00000388759	Transcript			I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity	ENSG00000197885	g.chr3:23942514C>A	17899			MODERATE		4.14	high	getma.org/?cm=msa&ty=f&p=KBRS1_HUMAN&rb=6&re=170&var=D41Y	getma.org/pdb.php?prot=KBRS1_HUMAN&from=6&to=170&var=D41Y	getma.org/?cm=var&var=hg19,3,23942514,C,A&fts=all	D41Y	--	--	1																																		NKIRAS1_uc003cck.2_Missense_Mutation_p.D41Y|NKIRAS1_uc003ccl.2_Missense_Mutation_p.D41Y|NKIRAS1_uc003ccm.2_Missense_Mutation_p.D41Y	1			probably_damaging(0.986)	p.D41Y	NM_020345	NP_065078		deleterious(0)	1	KBRS1_HUMAN	NKIRAS1	HGNC	Q9NYS0	KBRS1_HUMAN					4	523	-			UPI000004A03F	41			Effector region.		SNV	NKIRAS1,missense_variant,p.Asp41Tyr,ENST00000443659,;NKIRAS1,missense_variant,p.Asp41Tyr,ENST00000388759,;NKIRAS1,missense_variant,p.Asp41Tyr,ENST00000421515,;NKIRAS1,missense_variant,p.Asp41Tyr,ENST00000425478,NM_020345.3;NKIRAS1,missense_variant,p.Asp41Tyr,ENST00000437230,;NKIRAS1,missense_variant,p.Asp41Tyr,ENST00000415901,;NKIRAS1,missense_variant,p.Asp41Tyr,ENST00000412028,;NKIRAS1,missense_variant,p.Asp41Tyr,ENST00000416026,;	uc003ccj.2	c.121G>T	442/2335	2	2			c.121G>T						3	SNP	c.(121-123)GAT>TAT	48	48				0	Broad	kappa B-ras 1			23942514		0.413	ENSG00000197885	10256	g.chr3:23942514C>A	I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity							101.465036	KEEP	33	13	0.282608696	82	44	33	13	0.282608696	109.807216	82	44	0.26087	1	0	0	0	0	1	0	0	0	--	--		0	A			NKIRAS1_uc003cck.2_Missense_Mutation_p.D41Y|NKIRAS1_uc003ccl.2_Missense_Mutation_p.D41Y|NKIRAS1_uc003ccm.2_Missense_Mutation_p.D41Y	147	GBM-14-1823-TP	p.D41Y	C	ATGTATACATCTTCCATTGTT	NM_020345	NP_065078	23942514	Q9NYS0	KBRS1_HUMAN	0			4	523	-	A	A			Missense_Mutation	41			Effector region.			
NKTR	0	broad.mit.edu	GRCh37	3	42676817	42676817	+	synonymous_variant	Silent	SNP	A	A	G	rs142015233		TCGA-27-1836-01	TCGA-27-1836-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000232978.8:c.1122A>G	p.Ala374=	p.A374=	ENST00000232978	NM_005385.3	374	gcA/gcG	0	G:0		1			G	A	uc003clo.2	protein_coding	YES	CCDS2702.1			1122/4389									ovary(2)|skin(1)	3	c.(1120-1122)GCA>GCG				natural killer-tumor recognition sequence			G:0.0001	ENSP00000232978		17-Dec	8.24E-06					1.51E-05			rs142015233,COSM3408674	17-Dec	.		ENST00000232978	Transcript			protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	ENSG00000114857	g.chr3:42676817A>G	7833			LOW								--	--	1																																		NKTR_uc003clm.1_Silent_p.A121A|NKTR_uc003clp.2_Silent_p.A121A|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Silent_p.A264A|NKTR_uc003clr.1_Silent_p.A121A|NKTR_uc003cls.2_Silent_p.A74A	0,1	1			p.A374A	NM_005385	NP_005376			0,1	NKTR_HUMAN	NKTR	HGNC	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)			12	1269	+			UPI00001301FD	374					SNV	NKTR,synonymous_variant,p.=,ENST00000232978,NM_005385.3;RP4-613B23.1,intron_variant,,ENST00000438017,;RP4-613B23.1,intron_variant,,ENST00000445452,;RP4-613B23.1,intron_variant,,ENST00000434363,;NKTR,3_prime_UTR_variant,,ENST00000429888,;NKTR,non_coding_transcript_exon_variant,,ENST00000468735,;NKTR,non_coding_transcript_exon_variant,,ENST00000498730,;NKTR,non_coding_transcript_exon_variant,,ENST00000465584,;NKTR,non_coding_transcript_exon_variant,,ENST00000460807,;NKTR,non_coding_transcript_exon_variant,,ENST00000508351,;NKTR,non_coding_transcript_exon_variant,,ENST00000472258,;NKTR,downstream_gene_variant,,ENST00000472127,;NKTR,downstream_gene_variant,,ENST00000466553,;NKTR,downstream_gene_variant,,ENST00000464315,;	uc003clo.2	c.1122A>G	1310/7337	3	3			c.1122A>G						3	SNP	c.(1120-1122)GCA>GCG	8	8			ovary(2)|skin(1)	3	Broad	natural killer-tumor recognition sequence			42676817		0.388	ENSG00000114857	10260	g.chr3:42676817A>G	protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity							166.543354	KEEP	18	35	-1	41	38	18	35	-1	167.630613	41	38	0.4	1	0	0	0	0	0	0	1	0	--	--		0	G			NKTR_uc003clm.1_Silent_p.A121A|NKTR_uc003clp.2_Silent_p.A121A|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Silent_p.A264A|NKTR_uc003clr.1_Silent_p.A121A|NKTR_uc003cls.2_Silent_p.A74A	195	GBM-27-1836-TP	p.A374A	A	GATTAAGAGCATATAGACCAC	NM_005385	NP_005376	42676817	P30414	NKTR_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.24)	12	1269	+	G	G			Silent	374						
NKTR	4820		GRCh37	3	42678511	42678511	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000232978.8:c.1319del	p.Lys440ArgfsTer26	p.K440Rfs*26	ENST00000232978	NM_005385.3	439	Aaa/aa	0																																																																																																																																																																																																																																												
NKX2-4	644524		GRCh37	20	21377636	21377636	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000351817.4:c.402C>T	p.Thr134=	p.T134=	ENST00000351817	NM_033176.1	134	acC/acT	0																																																																																																																																																																																																																																												
NKX3-1	0	broad.mit.edu	GRCh37	8	23538761	23538761	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-1991-01	TCGA-32-1991-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380871.4:c.678G>A	p.Val226=	p.V226=	ENST00000380871	NM_006167.3	226	gtG/gtA	0			1			T	V	uc011kzx.1	protein_coding	YES	CCDS6042.1			678/705										0	c.(676-678)GTG>GTA			hmmpanther:PTHR24340,hmmpanther:PTHR24340:SF30	NK3 homeobox 1				ENSP00000370253		2-Feb									COSM3412922	2-Feb	.		ENST00000380871	Transcript			negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding	ENSG00000167034	g.chr8:23538761C>T	7838			LOW								--	--	1																																		NKX3-1_uc003xdv.1_Intron	1	1			p.V226V	NM_006167	NP_006158			1	NKX31_HUMAN	NKX3-1	HGNC	Q99801	NKX31_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)			2	726	-		Prostate(55;0.114)	UPI00001301F4	226					SNV	NKX3-1,synonymous_variant,p.=,ENST00000380871,NM_006167.3;NKX3-1,synonymous_variant,p.=,ENST00000523261,NM_001256339.1;	uc011kzx.1	c.678G>A	716/3271	1	1			c.678G>A						8	SNP	c.(676-678)GTG>GTA	9	9				0	Broad	NK3 homeobox 1			23538761		0.542	ENSG00000167034	10267	g.chr8:23538761C>T	negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding							167.085327	KEEP	29	41	-1	59	50	29	41	-1	168.814424	59	50	0.385135	1	0	0	0	0	0	0	1	0	--	--		0	T			NKX3-1_uc003xdv.1_Intron	234	GBM-32-1991-TP	p.V226V	C	TCCAGCTGCCCACGCAGTACA	NM_006167	NP_006158	23538761	Q99801	NKX31_HUMAN	0		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)	2	726	-	T	T		Prostate(55;0.114)	Silent	226						
NKX3-2	0	broad.mit.edu	GRCh37	4	13543971	13543971	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-12-0821-01	TCGA-12-0821-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382438.5:c.648G>C	p.Ala216=	p.A216=	ENST00000382438	NM_001189.3	216	gcG/gcC	0			1			G	A	uc003gmx.2	protein_coding	YES	CCDS3410.1			648/1002										0	c.(646-648)GCG>GCC			Gene3D:1.10.10.60,Pfam_domain:PF00046,PROSITE_profiles:PS50071,hmmpanther:PTHR24340,hmmpanther:PTHR24340:SF22,SMART_domains:SM00389,Superfamily_domains:SSF46689	NK3 homeobox 2				ENSP00000371875		2-Feb									COSM3409057	2-Feb	.		ENST00000382438	Transcript	1		negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000109705	g.chr4:13543971C>G	951			LOW								--	--	1																																			1	1			p.A216A	NM_001189	NP_001180			1	NKX32_HUMAN	NKX3-2	HGNC	P78367	NKX32_HUMAN					2	724	-			UPI00001301F5	216			Homeobox.		SNV	NKX3-2,synonymous_variant,p.=,ENST00000382438,NM_001189.3;LINC01096,downstream_gene_variant,,ENST00000501050,;LINC01096,downstream_gene_variant,,ENST00000503938,;	uc003gmx.2	c.648G>C	1284/2801	3	3			c.648G>C						4	SNP	c.(646-648)GCG>GCC	3	3				0	Broad	NK3 homeobox 2			13543971		0.502	ENSG00000109705	10268	g.chr4:13543971C>G	negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							45.005028	KEEP	8	5	-1	7	4	8	5	-1	45.098162	7	4	0.565217	1	0	0	0	0	0	0	1	0	--	--		0	G				123	GBM-12-0821-TP	p.A216A	C	CGAAGACCTGCGCGTGGGAGA	NM_001189	NP_001180	13543971	P78367	NKX32_HUMAN	0			2	724	-	G	G			Silent	216			Homeobox.			
NKX3-2	0	broad.mit.edu	GRCh37	4	13543978	13543978	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01	TCGA-12-0821-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382438.5:c.641C>T	p.Ser214Phe	p.S214F	ENST00000382438	NM_001189.3	214	tCc/tTc	0			1			A	S/F	uc003gmx.2	protein_coding	YES	CCDS3410.1			641/1002										0	c.(640-642)TCC>TTC			Gene3D:1.10.10.60,Pfam_domain:PF00046,PROSITE_profiles:PS50071,hmmpanther:PTHR24340,hmmpanther:PTHR24340:SF22,SMART_domains:SM00389,Superfamily_domains:SSF46689	NK3 homeobox 2				ENSP00000371875		2-Feb									COSM3409058	2-Feb	.		ENST00000382438	Transcript	1		negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000109705	g.chr4:13543978G>A	951			MODERATE		3.72	high	getma.org/?cm=msa&ty=f&p=NKX32_HUMAN&rb=207&re=263&var=S214F	getma.org/pdb.php?prot=NKX32_HUMAN&from=207&to=263&var=S214F	getma.org/?cm=var&var=hg19,4,13543978,G,A&fts=all	S214F	--	--	1																																			1	1		probably_damaging(1)	p.S214F	NM_001189	NP_001180		deleterious(0)	1	NKX32_HUMAN	NKX3-2	HGNC	P78367	NKX32_HUMAN					2	717	-			UPI00001301F5	214			Homeobox.		SNV	NKX3-2,missense_variant,p.Ser214Phe,ENST00000382438,NM_001189.3;LINC01096,downstream_gene_variant,,ENST00000501050,;LINC01096,downstream_gene_variant,,ENST00000503938,;	uc003gmx.2	c.641C>T	1277/2801	2	2			c.641C>T						4	SNP	c.(640-642)TCC>TTC	46	46				0	Broad	NK3 homeobox 2			13543978		0.478	ENSG00000109705	10268	g.chr4:13543978G>A	negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							37.202491	KEEP	6	6	-1	6	3	6	6	-1	37.377118	6	3	0.6	1	0	0	0	0	1	0	0	0	--	--		0	A				123	GBM-12-0821-TP	p.S214F	G	CTGCGCGTGGGAGAAAGCGGC	NM_001189	NP_001180	13543978	P78367	NKX32_HUMAN	0			2	717	-	A	A			Missense_Mutation	214			Homeobox.			
NLGN1	0	broad.mit.edu	GRCh37	3	173525621	173525621	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T			TCGA-26-6173-01	TCGA-26-6173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000457714.1:c.645C>T	p.Leu215=	p.L215=	ENST00000457714	NM_014932.3	215	ctC/ctT	0			1			T	L	uc003fio.1	protein_coding	YES	CCDS3222.1			645/2472									lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	c.(643-645)CTC>CTT			Superfamily_domains:SSF53474,Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF52	neuroligin 1				ENSP00000392500		7-Apr	1.65E-05			0.000116		1.51E-05			rs779083189,COSM3408443,COSM3408444	7-Apr	.		ENST00000457714	Transcript			calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	ENSG00000169760	g.chr3:173525621C>T	14291			LOW								--	--	1																																		NLGN1_uc010hww.1_Silent_p.L255L|NLGN1_uc003fip.1_Silent_p.L215L	0,1,1	1			p.L215L	NM_014932	NP_055747			0,1,1	NLGN1_HUMAN	NLGN1	HGNC	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)				4	1068	+	Ovarian(172;0.0025)		UPI0000072F54	232			Extracellular (Potential).		SNV	NLGN1,splice_region_variant,p.=,ENST00000457714,NM_014932.3;NLGN1,splice_region_variant,p.=,ENST00000361589,;NLGN1,splice_region_variant,p.=,ENST00000545397,;NLGN1,splice_region_variant,p.=,ENST00000401917,;NLGN1,splice_region_variant,p.=,ENST00000415045,;	uc003fio.1	c.645C>T	1074/8242	2	2			c.645C>T						3	SNP	c.(643-645)CTC>CTT	35	35			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Broad	neuroligin 1			173525621		0.323	ENSG00000169760	10273	g.chr3:173525621C>T	calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity							31.823436	KEEP	7	9	-1	25	28	7	9	-1	36.10057	25	28	0.225806	1	0	0	0	0	0	0	1	0	--	--		0	T			NLGN1_uc010hww.1_Silent_p.L255L|NLGN1_uc003fip.1_Silent_p.L215L	187	GBM-26-6173-TP	p.L215L	C	TTGGAGTACTCGGTAAGAAGA	NM_014932	NP_055747	173525621	Q8N2Q7	NLGN1_HUMAN	0	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		4	1068	+	T	T	Ovarian(172;0.0025)		Silent	232			Extracellular (Potential).			
NLGN1	22871		GRCh37	3	173998531	173998531	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0151-01	TCGA-06-0151-01																				ENST00000457714.1:c.1910G>C	p.Arg637Thr	p.R637T	ENST00000457714	NM_014932.3	637	aGa/aCa	0																																																																																																																																																																																																																																												
NLGN3	54413	broad.mit.edu	GRCh37	X	70368006	70368006	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-6388-01	TCGA-06-6388-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358741.3:c.407A>G	p.Glu136Gly	p.E136G	ENST00000358741	NM_181303.1	136	gAg/gGg	0			1			G	E/G	uc004dzd.1	protein_coding	YES	CCDS55441.1			407/2547									ovary(1)	1	c.(406-408)GAG>GGG			hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF145,Gene3D:3.40.50.1820,Pfam_domain:PF00135,Superfamily_domains:SSF53474	neuroligin 3				ENSP00000351591		8-Feb									COSM3406561,COSM3406560	8-Feb	.		ENST00000358741	Transcript	1		neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	ENSG00000196338	g.chrX:70368006A>G	14289			MODERATE		0.44	neutral	getma.org/?cm=msa&ty=f&p=NLGN3_HUMAN&rb=19&re=624&var=E136G	getma.org/pdb.php?prot=NLGN3_HUMAN&from=19&to=624&var=E136G	getma.org/?cm=var&var=hg19,X,70368006,A,G&fts=all	E136G	--	--	1																																		NLGN3_uc010nlb.1_Missense_Mutation_p.E136G|NLGN3_uc004dzb.2_Missense_Mutation_p.E136G|NLGN3_uc004dzc.2_Missense_Mutation_p.E19G|NLGN3_uc011mps.1_Missense_Mutation_p.E136G|NLGN3_uc011mpr.1_Missense_Mutation_p.E136G	1,1	1		benign(0.297)	p.E136G	NM_018977	NP_061850		tolerated(0.06)	1,1	NLGN3_HUMAN	NLGN3	HGNC	Q9NZ94	NLGN3_HUMAN					1	607	+	Renal(35;0.156)		UPI000006FCBB	136			Extracellular (Potential).		SNV	NLGN3,missense_variant,p.Glu136Gly,ENST00000374051,NM_018977.3;NLGN3,missense_variant,p.Glu136Gly,ENST00000536169,NM_001166660.1;NLGN3,missense_variant,p.Glu136Gly,ENST00000358741,NM_181303.1;NLGN3,missense_variant,p.Glu136Gly,ENST00000395855,;	uc004dzd.1	c.407A>G	710/3046	3	3			c.407A>G						23	SNP	c.(406-408)GAG>GGG	3	3			ovary(1)	1	Broad	neuroligin 3			70368006		0.612	ENSG00000196338	10275	g.chrX:70368006A>G	neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	Esophageal Squamous(103;760 1488 16849 22250 40351)			Esophageal Squamous(103;760 1488 16849 22250 40351)			-4.012237	KEEP	2	5	-1	55	52	2	5	-1	15.119898	55	52	0.0625	1	0	0	0	0	1	0	0	0	--	--		0	G			NLGN3_uc010nlb.1_Missense_Mutation_p.E136G|NLGN3_uc004dzb.2_Missense_Mutation_p.E136G|NLGN3_uc004dzc.2_Missense_Mutation_p.E19G|NLGN3_uc011mps.1_Missense_Mutation_p.E136G|NLGN3_uc011mpr.1_Missense_Mutation_p.E136G	104	GBM-06-6388-TP	p.E136G	A	TACATCCAGGAGCCCAACGAA	NM_018977	NP_061850	70368006	Q9NZ94	NLGN3_HUMAN	0			1	607	+	G	G	Renal(35;0.156)		Missense_Mutation	136			Extracellular (Potential).			
NLGN4X	0	broad.mit.edu	GRCh37	X	5811156	5811156	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-14-0786-01	TCGA-14-0786-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275857.6:c.2153C>A	p.Thr718Lys	p.T718K	ENST00000275857	NM_020742.2	718	aCa/aAa	0			1			T	T/K	uc010ndh.2	protein_coding		CCDS14126.1			2153/2451									skin(2)|large_intestine(1)|ovary(1)	4	c.(2152-2154)ACA>AAA				X-linked neuroligin 4 precursor				ENSP00000275857		6-Jun									COSM3406511,COSM3406512	6-Jun	.		ENST00000275857	Transcript	1		brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	ENSG00000146938	g.chrX:5811156G>T	14287			MODERATE		1.01	low	getma.org/?cm=msa&ty=f&p=NLGNX_HUMAN&rb=591&re=790&var=T718K	NA	getma.org/?cm=var&var=hg19,X,5811156,G,T&fts=all	T718K	--	--	1																																		NLGN4X_uc004crp.2_Missense_Mutation_p.T738K|NLGN4X_uc004crq.2_Missense_Mutation_p.T718K|NLGN4X_uc010ndi.2_Missense_Mutation_p.T755K|NLGN4X_uc004crr.2_Missense_Mutation_p.T718K|NLGN4X_uc010ndj.2_Missense_Mutation_p.T718K	1,1			benign(0.081)	p.T718K	NM_181332	NP_851849		tolerated_low_confidence(0.32)	1,1	NLGNX_HUMAN	NLGN4X	HGNC	Q8N0W4	NLGNX_HUMAN			B3KMT6_HUMAN		6	2654	-			UPI0000072EC5	718			Cytoplasmic (Potential).		SNV	NLGN4X,missense_variant,p.Thr718Lys,ENST00000381095,NM_181332.1,NM_001282146.1,NM_001282145.1;NLGN4X,missense_variant,p.Thr738Lys,ENST00000381093,;NLGN4X,missense_variant,p.Thr718Lys,ENST00000275857,NM_020742.2;NLGN4X,missense_variant,p.Thr718Lys,ENST00000381092,;NLGN4X,missense_variant,p.Thr718Lys,ENST00000538097,;NLGN4X,intron_variant,,ENST00000477079,;	uc010ndh.2	c.2153C>A	2617/5454	2	2			c.2153C>A						23	SNP	c.(2152-2154)ACA>AAA	44	44			skin(2)|large_intestine(1)|ovary(1)	4	Broad	X-linked neuroligin 4 precursor			5811156		0.522	ENSG00000146938	10276	g.chrX:5811156G>T	brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity							139.757215	KEEP	30	19	0.612244898	51	43	30	19	0.612244898	142.464237	51	43	0.350365	1	0	0	0	0	1	0	0	0	--	--		0	T			NLGN4X_uc004crp.2_Missense_Mutation_p.T738K|NLGN4X_uc004crq.2_Missense_Mutation_p.T718K|NLGN4X_uc010ndi.2_Missense_Mutation_p.T755K|NLGN4X_uc004crr.2_Missense_Mutation_p.T718K|NLGN4X_uc010ndj.2_Missense_Mutation_p.T718K	134	GBM-14-0786-TP	p.T718K	G	GATATCATTTGTGGTGTTTCT	NM_181332	NP_851849	5811156	Q8N0W4	NLGNX_HUMAN	0			6	2654	-	T	T			Missense_Mutation	718			Cytoplasmic (Potential).			
NLGN4Y	0	broad.mit.edu	GRCh37	Y	16952864	16952864	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-4210-01	TCGA-32-4210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339174.5:c.2173C>G	p.Gln725Glu	p.Q725E	ENST00000339174		725	Cag/Gag	0			1			G	Q/E	uc004ftg.2	protein_coding		CCDS14788.1			2173/2451										0	c.(2173-2175)CAG>GAG				neuroligin 4, Y-linked isoform 1				ENSP00000342535		6-Jun									COSM3408049,COSM3408050	6-Jun	.		ENST00000339174	Transcript			brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity	ENSG00000165246	g.chrY:16952864C>G	15529			MODERATE		2.005	medium	getma.org/?cm=msa&ty=f&p=NLGNY_HUMAN&rb=591&re=790&var=Q725E	NA	getma.org/?cm=var&var=hg19,Y,16952864,C,G&fts=all	Q725E	--	--	1																																		NLGN4Y_uc004fte.2_Missense_Mutation_p.Q557E|NLGN4Y_uc011nas.1_Missense_Mutation_p.Q745E|NLGN4Y_uc004ftf.2_Missense_Mutation_p.Q418E|NLGN4Y_uc004fth.2_Missense_Mutation_p.Q725E	1,1			benign(0.066)	p.Q725E	NM_014893	NP_055708		tolerated_low_confidence(0.1)	1,1	NLGNY_HUMAN	NLGN4Y	HGNC	Q8NFZ3	NLGNY_HUMAN					6	2425	+			UPI000004770C	725			Cytoplasmic (Potential).		SNV	NLGN4Y,missense_variant,p.Gln557Glu,ENST00000382872,NM_001206850.1;NLGN4Y,missense_variant,p.Gln782Glu,ENST00000382868,;NLGN4Y,missense_variant,p.Gln725Glu,ENST00000339174,;NLGN4Y,missense_variant,p.Gln725Glu,ENST00000355905,NM_014893.4;NLGN4Y,non_coding_transcript_exon_variant,,ENST00000476359,;	uc004ftg.2	c.2173C>G	2647/5310	4	4			c.2173C>G						24	SNP	c.(2173-2175)CAG>GAG	29	29				0	Broad	neuroligin 4, Y-linked isoform 1			16952864		0.547	ENSG00000165246	10277	g.chrY:16952864C>G	brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity							5.441988	KEEP	0	2	-1	5	6	0	2	-1	6.706211	5	6	0.166667	1	0	0	0	0	1	0	0	0	--	--		0	G			NLGN4Y_uc004fte.2_Missense_Mutation_p.Q557E|NLGN4Y_uc011nas.1_Missense_Mutation_p.Q745E|NLGN4Y_uc004ftf.2_Missense_Mutation_p.Q418E|NLGN4Y_uc004fth.2_Missense_Mutation_p.Q725E	245	GBM-32-4210-TP	p.Q725E	C	CACTCACATCCAGAACGAAGA	NM_014893	NP_055708	16952864	Q8NFZ3	NLGNY_HUMAN	0			6	2425	+	G	G			Missense_Mutation	725			Cytoplasmic (Potential).			
NLN	57486	broad.mit.edu	GRCh37	5	65088386	65088386	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-06-0128-01	TCGA-06-0128-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380985.5:c.1431A>C	p.Ser477=	p.S477=	ENST00000380985	NM_020726.4	477	tcA/tcC	0			1			C	S	uc003juf.2	protein_coding	YES	CCDS3989.1			1431/2115									central_nervous_system(1)	1	c.(1429-1431)TCA>TCC			Gene3D:3.40.390.10,Pfam_domain:PF01432,hmmpanther:PTHR11804,hmmpanther:PTHR11804:SF13,Superfamily_domains:SSF55486	neurolysin precursor				ENSP00000370372		13-Sep	0.000264	9.64E-05				0.00024			rs201411983,COSM482968	13-Sep	.		ENST00000380985	Transcript			proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity	ENSG00000123213	g.chr5:65088386A>C	16058			LOW								--	--	1																																		NLN_uc003jue.2_Silent_p.S477S|NLN_uc003jug.2_Silent_p.S306S|NLN_uc010iww.2_Silent_p.S172S	0,1	1			p.S477S	NM_020726	NP_065777			0,1	NEUL_HUMAN	NLN	HGNC	Q9BYT8	NEUL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)	Q8NDD9_HUMAN,E9PCB6_HUMAN		9	1547	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	UPI000003989D	477					SNV	NLN,synonymous_variant,p.=,ENST00000380985,NM_020726.4;NLN,synonymous_variant,p.=,ENST00000502464,;NLN,synonymous_variant,p.=,ENST00000511299,;NLN,synonymous_variant,p.=,ENST00000509935,;NLN,non_coding_transcript_exon_variant,,ENST00000506539,;NLN,non_coding_transcript_exon_variant,,ENST00000506799,;	uc003juf.2	c.1431A>C	1609/8661	3	3			c.1431A>C						5	SNP	c.(1429-1431)TCA>TCC	5	5			central_nervous_system(1)	1	Broad	neurolysin precursor			65088386		0.552	ENSG00000123213	10279	g.chr5:65088386A>C	proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity							1.942667	KEEP	11	5	-1	43	39	11	5	-1	6.467781	43	39	0.204082	1	0	0	0	0	0	0	1	0	--	--		0	C			NLN_uc003jue.2_Silent_p.S477S|NLN_uc003jug.2_Silent_p.S306S|NLN_uc010iww.2_Silent_p.S172S	14	GBM-06-0128-TP	p.S477S	A	TGAACTTCTCACAGCCAGTGG	NM_020726	NP_065777	65088386	Q9BYT8	NEUL_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)	9	1547	+	C	C		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	Silent	477						
NLRC4	58484	broad.mit.edu	GRCh37	2	32460481	32460481	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-5413-01	TCGA-06-5413-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000404025.2:c.2771T>G	p.Ile924Ser	p.I924S	ENST00000404025		924	aTt/aGt	0			1			C	I/S	uc002roi.2	protein_coding		CCDS33174.1			2771/3075									ovary(3)|large_intestine(1)|lung(1)|skin(1)	6	c.(2770-2772)ATT>AGT			Gene3D:3.80.10.10,hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF97,Superfamily_domains:SSF52047	caspase recruitment domain protein 12				ENSP00000354159		9-Aug									COSM3407826	9-Aug	.		ENST00000360906	Transcript			activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	ENSG00000091106	g.chr2:32460481A>C	16412			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=NLRC4_HUMAN&rb=917&re=1024&var=I924S	NA	getma.org/?cm=var&var=hg19,2,32460481,A,C&fts=all	I924S	--	--	1																																		NLRC4_uc002roj.1_Missense_Mutation_p.I924S|NLRC4_uc010ezt.1_Missense_Mutation_p.I259S	1			benign(0.079)	p.I924S	NM_021209	NP_067032		deleterious(0.01)	1	NLRC4_HUMAN	NLRC4	HGNC	Q9NPP4	NLRC4_HUMAN					8	3017	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		UPI0000126FAD	924			LRR 11.		SNV	NLRC4,missense_variant,p.Ile924Ser,ENST00000404025,;NLRC4,missense_variant,p.Ile924Ser,ENST00000360906,NM_001199139.1,NM_021209.4;NLRC4,missense_variant,p.Ile924Ser,ENST00000402280,NM_001199138.1;NLRC4,missense_variant,p.Ile259Ser,ENST00000342905,;	uc002roi.2	c.2771T>G	3035/3359	4	4			c.2771T>G						2	SNP	c.(2770-2772)ATT>AGT	48	48			ovary(3)|large_intestine(1)|lung(1)|skin(1)	6	Broad	caspase recruitment domain protein 12			32460481		0.428	ENSG00000091106	10281	g.chr2:32460481A>C	activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity							-43.468408	KEEP	4	2	-1	108	142	4	2	-1	12.453556	108	142	0.026549	1	0	0	0	0	1	0	0	0	--	--		0	C			NLRC4_uc002roj.1_Missense_Mutation_p.I924S|NLRC4_uc010ezt.1_Missense_Mutation_p.I259S	96	GBM-06-5413-TP	p.I924S	A	TAAAATTCTAATCTCTGTATC	NM_021209	NP_067032	32460481	Q9NPP4	NLRC4_HUMAN	0			8	3017	-	C	C	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		Missense_Mutation	924			LRR 11.			
NLRC5	84166	broad.mit.edu	GRCh37	16	57054711	57054711	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2559-01	TCGA-06-2559-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262510.6:c.87C>T	p.Asn29=	p.N29=	ENST00000262510	NM_032206.4	29	aaC/aaT	0		T:0	1	T:0		T	N	uc002ekk.1	protein_coding	YES	CCDS10773.1			87/5601									ovary(4)|skin(2)|breast(1)	7	c.(85-87)AAC>AAT			hmmpanther:PTHR24106:SF69,hmmpanther:PTHR24106	nucleotide-binding oligomerization domains 27		T:0		ENSP00000262510	T:0.001	Mar-49	0.000264		0.000173			1.50E-05		0.00176	rs200713636,COSM2152678	Mar-49	common_variant		ENST00000262510	Transcript		T:0.0008	defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	ENSG00000140853	g.chr16:57054711C>T	29933			LOW								--	--	1																																		NLRC5_uc010ccq.1_RNA	0,1	1			p.N29N	NM_032206	NP_115582	T:0.0031		0,1	NLRC5_HUMAN	NLRC5	HGNC	Q86WI3	NLRC5_HUMAN			F5H274_HUMAN,F5GYP0_HUMAN		3	312	+		all_neural(199;0.225)	UPI00001AEE94	29					SNV	NLRC5,synonymous_variant,p.=,ENST00000436936,;NLRC5,synonymous_variant,p.=,ENST00000262510,NM_032206.4;NLRC5,synonymous_variant,p.=,ENST00000308149,;NLRC5,synonymous_variant,p.=,ENST00000539144,;NLRC5,synonymous_variant,p.=,ENST00000544641,;NLRC5,upstream_gene_variant,,ENST00000538805,;NLRC5,downstream_gene_variant,,ENST00000538059,;NLRC5,synonymous_variant,p.=,ENST00000539881,;NLRC5,non_coding_transcript_exon_variant,,ENST00000538273,;NLRC5,upstream_gene_variant,,ENST00000545081,;	uc002ekk.1	c.87C>T	312/6822	2	2			c.87C>T						16	SNP	c.(85-87)AAC>AAT	47	47			ovary(4)|skin(2)|breast(1)	7	Broad	nucleotide-binding oligomerization domains 27			57054711		0.562	ENSG00000140853	10282	g.chr16:57054711C>T	defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding							192.255546	KEEP	31	32	-1	27	38	31	32	-1	192.257446	27	38	0.504065	1	0	0	0	0	0	0	1	0	--	--		0	T			NLRC5_uc010ccq.1_RNA	83	GBM-06-2559-TP	p.N29N	C	AATGGCTGAACGCCAAGATGA	NM_032206	NP_115582	57054711	Q86WI3	NLRC5_HUMAN	0			3	312	+	T	T		all_neural(199;0.225)	Silent	29						
NLRC5	84166	broad.mit.edu	GRCh37	16	57088674	57088674	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01	TCGA-06-2559-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262510.6:c.3518C>T	p.Thr1173Met	p.T1173M	ENST00000262510	NM_032206.4	1173	aCg/aTg	0			1			T	T/M	uc002ekk.1	protein_coding	YES	CCDS10773.1			3518/5601									ovary(4)|skin(2)|breast(1)	7	c.(3517-3519)ACG>ATG			Low_complexity_(Seg):seg,hmmpanther:PTHR24106:SF69,hmmpanther:PTHR24106,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	nucleotide-binding oligomerization domains 27				ENSP00000262510		25/49									COSM1195787	25/49	.		ENST00000262510	Transcript			defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	ENSG00000140853	g.chr16:57088674C>T	29933			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=NLRC5_HUMAN&rb=1027&re=1226&var=T1173M	NA	getma.org/?cm=var&var=hg19,16,57088674,C,T&fts=all	T1173M	--	--	1																																		NLRC5_uc002ekn.2_Missense_Mutation_p.T892M|NLRC5_uc002ekl.2_Missense_Mutation_p.T978M|NLRC5_uc002ekm.2_Missense_Mutation_p.T948M|NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekp.1_Missense_Mutation_p.T89M|NLRC5_uc002ekq.1_Translation_Start_Site|NLRC5_uc002ekr.1_Missense_Mutation_p.T89M	1	1		benign(0.097)	p.T1173M	NM_032206	NP_115582		tolerated(0.05)	1	NLRC5_HUMAN	NLRC5	HGNC	Q86WI3	NLRC5_HUMAN			F5H274_HUMAN,F5GYP0_HUMAN		25	3743	+		all_neural(199;0.225)	UPI00001AEE94	1173			LRR 12.		SNV	NLRC5,missense_variant,p.Thr1173Met,ENST00000436936,;NLRC5,missense_variant,p.Thr1173Met,ENST00000262510,NM_032206.4;NLRC5,missense_variant,p.Thr1173Met,ENST00000308149,;NLRC5,missense_variant,p.Thr1173Met,ENST00000539144,;NLRC5,missense_variant,p.Thr926Met,ENST00000538805,;NLRC5,missense_variant,p.Thr650Met,ENST00000538110,;NLRC5,missense_variant,p.Thr442Met,ENST00000543030,;NLRC5,upstream_gene_variant,,ENST00000399221,;RP11-322D14.2,intron_variant,,ENST00000562970,;NLRC5,missense_variant,p.Thr901Met,ENST00000545081,;NLRC5,missense_variant,p.Thr324Met,ENST00000538453,;NLRC5,missense_variant,p.Thr204Met,ENST00000540182,;NLRC5,missense_variant,p.Thr114Met,ENST00000537056,;NLRC5,non_coding_transcript_exon_variant,,ENST00000538930,;NLRC5,non_coding_transcript_exon_variant,,ENST00000538778,;NLRC5,non_coding_transcript_exon_variant,,ENST00000534931,;NLRC5,upstream_gene_variant,,ENST00000535284,;NLRC5,upstream_gene_variant,,ENST00000543402,;	uc002ekk.1	c.3518C>T	3743/6822	2	2			c.3518C>T						16	SNP	c.(3517-3519)ACG>ATG	25	25			ovary(4)|skin(2)|breast(1)	7	Broad	nucleotide-binding oligomerization domains 27			57088674		0.592	ENSG00000140853	10282	g.chr16:57088674C>T	defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding							-70.801304	KEEP	6	12	-1	258	276	6	12	-1	34.632417	258	276	0.03913	1	0	0	0	0	1	0	0	0	--	--		0	T			NLRC5_uc002ekn.2_Missense_Mutation_p.T892M|NLRC5_uc002ekl.2_Missense_Mutation_p.T978M|NLRC5_uc002ekm.2_Missense_Mutation_p.T948M|NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekp.1_Missense_Mutation_p.T89M|NLRC5_uc002ekq.1_Translation_Start_Site|NLRC5_uc002ekr.1_Missense_Mutation_p.T89M	83	GBM-06-2559-TP	p.T1173M	C	CTGAGCCAGACGGGACTGTCC	NM_032206	NP_115582	57088674	Q86WI3	NLRC5_HUMAN	0			25	3743	+	T	T		all_neural(199;0.225)	Missense_Mutation	1173			LRR 12.			
NLRP1	0	broad.mit.edu	GRCh37	17	5418262	5418262	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-26-1439-01	TCGA-26-1439-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000572272.1:c.4234C>T	p.Gln1412Ter	p.Q1412*	ENST00000572272		1412	Cag/Tag	0			1			A	Q/*	uc002gci.2	protein_coding	YES	CCDS42246.1			4234/4422									lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9	c.(4234-4236)CAG>TAG			Gene3D:1.10.533.10,Pfam_domain:PF00619,PROSITE_profiles:PS50209,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF13,Superfamily_domains:SSF47986	NLR family, pyrin domain containing 1 isoform 1				ENSP00000460475		17/17									COSM3403031,COSM3403030	17/17	.		ENST00000572272	Transcript	1		defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	ENSG00000091592	g.chr17:5418262G>A	14374			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,17,5418262,G,A&fts=all	Q1412*	--	--	1																																		NLRP1_uc002gcg.1_Intron|NLRP1_uc002gck.2_Nonsense_Mutation_p.Q1368*|NLRP1_uc002gcj.2_Nonsense_Mutation_p.Q1382*|NLRP1_uc002gcl.2_Nonsense_Mutation_p.Q1338*|NLRP1_uc002gch.3_Nonsense_Mutation_p.Q1368*	1,1	1			p.Q1412*	NM_033004	NP_127497			1,1	NALP1_HUMAN	NLRP1	HGNC	Q9C000	NALP1_HUMAN			I3L2G5_HUMAN,I3L0S2_HUMAN		17	4789	-		Colorectal(1115;3.48e-05)	UPI0000038309	1412			CARD.		SNV	NLRP1,stop_gained,p.Gln1368Ter,ENST00000345221,NM_033004.3,NM_014922.4,NM_033007.3;NLRP1,stop_gained,p.Gln1368Ter,ENST00000269280,;NLRP1,stop_gained,p.Gln1412Ter,ENST00000572272,;NLRP1,stop_gained,p.Gln1382Ter,ENST00000354411,NM_033006.3;NLRP1,stop_gained,p.Gln1338Ter,ENST00000577119,;NLRP1,intron_variant,,ENST00000262467,NM_001033053.2;RNU7-31P,upstream_gene_variant,,ENST00000517262,;NLRP1,3_prime_UTR_variant,,ENST00000571451,;NLRP1,intron_variant,,ENST00000544378,;NLRP1,intron_variant,,ENST00000574512,;	uc002gci.2	c.4234C>T	4234/4422	5	2			c.4234C>T						17	SNP	c.(4234-4236)CAG>TAG	18	18			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9	Broad	NLR family, pyrin domain containing 1 isoform 1			5418262		0.572	ENSG00000091592	10283	g.chr17:5418262G>A	defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			431			431	36.190791	KEEP	12	7	-1	37	46	12	7	-1	43.734271	37	46	0.2	1	0	0	0	0	0	1	0	0	--	--		0	A			NLRP1_uc002gcg.1_Intron|NLRP1_uc002gck.2_Nonsense_Mutation_p.Q1368*|NLRP1_uc002gcj.2_Nonsense_Mutation_p.Q1382*|NLRP1_uc002gcl.2_Nonsense_Mutation_p.Q1338*|NLRP1_uc002gch.3_Nonsense_Mutation_p.Q1368*	179	GBM-26-1439-TP	p.Q1412*	G	CTCTCGTACTGCTCCTGGCTC	NM_033004	NP_127497	5418262	Q9C000	NALP1_HUMAN	0			17	4789	-	A	A		Colorectal(1115;3.48e-05)	Nonsense_Mutation	1412			CARD.			
NLRP1	0	broad.mit.edu	GRCh37	17	5461860	5461860	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-4211-01	TCGA-32-4211-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000572272.1:c.2156T>C	p.Leu719Pro	p.L719P	ENST00000572272		719	cTc/cCc	0			1			G	L/P	uc002gci.2	protein_coding	YES	CCDS42246.1			2156/4422									lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9	c.(2155-2157)CTC>CCC			Gene3D:3.80.10.10,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF13,Low_complexity_(Seg):seg,Superfamily_domains:SSF52047	NLR family, pyrin domain containing 1 isoform 1				ENSP00000460475		17-Apr									COSM3748020,COSM3748019,COSM3748018	17-Apr	.		ENST00000572272	Transcript	1		defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	ENSG00000091592	g.chr17:5461860A>G	14374			MODERATE		2.34	medium	getma.org/?cm=msa&ty=f&p=NALP1_HUMAN&rb=698&re=806&var=L719P	NA	getma.org/?cm=var&var=hg19,17,5461860,A,G&fts=all	L719P	--	--	1																																		NLRP1_uc002gcg.1_Missense_Mutation_p.L719P|NLRP1_uc002gck.2_Missense_Mutation_p.L719P|NLRP1_uc002gcj.2_Missense_Mutation_p.L719P|NLRP1_uc002gcl.2_Missense_Mutation_p.L719P|NLRP1_uc002gch.3_Missense_Mutation_p.L719P|NLRP1_uc010clh.2_Missense_Mutation_p.L719P	1,1,1	1		probably_damaging(0.987)	p.L719P	NM_033004	NP_127497		deleterious(0)	1,1,1	NALP1_HUMAN	NLRP1	HGNC	Q9C000	NALP1_HUMAN			I3L2G5_HUMAN,I3L0S2_HUMAN		4	2711	-		Colorectal(1115;3.48e-05)	UPI0000038309	719					SNV	NLRP1,missense_variant,p.Leu719Pro,ENST00000345221,NM_033004.3,NM_014922.4,NM_033007.3;NLRP1,missense_variant,p.Leu719Pro,ENST00000262467,NM_001033053.2;NLRP1,missense_variant,p.Leu719Pro,ENST00000269280,;NLRP1,missense_variant,p.Leu719Pro,ENST00000572272,;NLRP1,missense_variant,p.Leu719Pro,ENST00000354411,NM_033006.3;NLRP1,missense_variant,p.Leu719Pro,ENST00000577119,;NLRP1,non_coding_transcript_exon_variant,,ENST00000571307,;NLRP1,missense_variant,p.Leu719Pro,ENST00000571451,;NLRP1,missense_variant,p.Leu719Pro,ENST00000544378,;	uc002gci.2	c.2156T>C	2156/4422	3	3			c.2156T>C						17	SNP	c.(2155-2157)CTC>CCC	57	57			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9	Broad	NLR family, pyrin domain containing 1 isoform 1			5461860		0.537	ENSG00000091592	10283	g.chr17:5461860A>G	defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			431			431	-12.544694	KEEP	2	1	-1	72	76	2	1	-1	6.829371	72	76	0.036145	1	0	0	0	0	1	0	0	0	--	--		0	G			NLRP1_uc002gcg.1_Missense_Mutation_p.L719P|NLRP1_uc002gck.2_Missense_Mutation_p.L719P|NLRP1_uc002gcj.2_Missense_Mutation_p.L719P|NLRP1_uc002gcl.2_Missense_Mutation_p.L719P|NLRP1_uc002gch.3_Missense_Mutation_p.L719P|NLRP1_uc010clh.2_Missense_Mutation_p.L719P	246	GBM-32-4211-TP	p.L719P	A	CAAGCAGTGGAGGGACTCCAG	NM_033004	NP_127497	5461860	Q9C000	NALP1_HUMAN	0			4	2711	-	G	G		Colorectal(1115;3.48e-05)	Missense_Mutation	719						
NLRP11	204801	broad.mit.edu	GRCh37	19	56320789	56320789	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01	TCGA-06-0158-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000443188.1:c.1187G>A	p.Arg396His	p.R396H	ENST00000443188	NM_145007.3	396	cGt/cAt	0			1			T	R/H	uc010ygf.1	protein_coding		CCDS12935.1			1187/3102									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6	c.(1186-1188)CGT>CAT			hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF62,Low_complexity_(Seg):seg	NLR family, pyrin domain containing 11				ENSP00000466285		10-Mar									COSM2150130	10-Mar	.		ENST00000589093	Transcript					ATP binding	ENSG00000179873	g.chr19:56320789C>T	22945			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=NAL11_HUMAN&rb=147&re=470&var=R396H	NA	getma.org/?cm=var&var=hg19,19,56320789,C,T&fts=all	R396H	--	--	1																																		NLRP11_uc002qlz.2_Missense_Mutation_p.R297H|NLRP11_uc002qmb.2_Missense_Mutation_p.R297H|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	1			probably_damaging(0.959)	p.R396H	NM_145007	NP_659444		deleterious(0.01)	1	NAL11_HUMAN	NLRP11	HGNC	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	K7ESF9_HUMAN		5	1898	-		Colorectal(82;0.0002)	UPI000013ED9D	396			NACHT.		SNV	NLRP11,missense_variant,p.Arg396His,ENST00000443188,NM_145007.3;NLRP11,missense_variant,p.Arg396His,ENST00000360133,;NLRP11,missense_variant,p.Arg396His,ENST00000589093,;NLRP11,missense_variant,p.Arg396His,ENST00000589824,;NLRP11,missense_variant,p.Arg297His,ENST00000592953,;NLRP11,downstream_gene_variant,,ENST00000593208,;NLRP11,missense_variant,p.Arg297His,ENST00000590409,;NLRP11,missense_variant,p.Arg396His,ENST00000593244,;	uc010ygf.1	c.1187G>A	1281/3417	2	2			c.1187G>A						19	SNP	c.(1186-1188)CGT>CAT	43	43			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6	Broad	NLR family, pyrin domain containing 11			56320789		0.493	ENSG00000179873	10285	g.chr19:56320789C>T			ATP binding							166.065057	KEEP	30	39	-1	89	102	30	39	-1	176.310876	89	102	0.27897	1	0	0	0	0	1	0	0	0	--	--		0	T			NLRP11_uc002qlz.2_Missense_Mutation_p.R297H|NLRP11_uc002qmb.2_Missense_Mutation_p.R297H|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	29	GBM-06-0158-TP	p.R396H	C	CAAACACAGACGTTTTAGGAG	NM_145007	NP_659444	56320789	P59045	NAL11_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0325)	5	1898	-	T	T		Colorectal(82;0.0002)	Missense_Mutation	396			NACHT.			
NLRP11	0	broad.mit.edu	GRCh37	19	56300621	56300621	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-14-2554-01	TCGA-14-2554-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589093.1:c.2658T>A	p.His886Gln	p.H886Q	ENST00000589093		886	caT/caA	0			1			T	H/Q	uc010ygf.1	protein_coding		CCDS12935.1			2658/3102									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6	c.(2656-2658)CAT>CAA			Gene3D:3.80.10.10,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF62,SMART_domains:SM00368,Superfamily_domains:SSF52047	NLR family, pyrin domain containing 11				ENSP00000466285		10-Aug									COSM3404650	10-Aug	.		ENST00000589093	Transcript					ATP binding	ENSG00000179873	g.chr19:56300621A>T	22945			MODERATE		1.32	low	getma.org/?cm=msa&ty=f&p=NAL11_HUMAN&rb=717&re=916&var=H886Q	getma.org/pdb.php?prot=NAL11_HUMAN&from=717&to=916&var=H886Q	getma.org/?cm=var&var=hg19,19,56300621,A,T&fts=all	H886Q	--	--	1																																		NLRP11_uc002qlz.2_Missense_Mutation_p.H733Q|NLRP11_uc002qmb.2_Missense_Mutation_p.H787Q|NLRP11_uc002qmc.2_RNA	1			benign(0.035)	p.H886Q	NM_145007	NP_659444		tolerated(0.23)	1	NAL11_HUMAN	NLRP11	HGNC	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	K7ESF9_HUMAN		10	3369	-		Colorectal(82;0.0002)	UPI000013ED9D	886					SNV	NLRP11,missense_variant,p.His886Gln,ENST00000443188,NM_145007.3;NLRP11,missense_variant,p.His832Gln,ENST00000360133,;NLRP11,missense_variant,p.His886Gln,ENST00000589093,;NLRP11,missense_variant,p.His832Gln,ENST00000589824,;NLRP11,missense_variant,p.His787Gln,ENST00000592953,;NLRP11,3_prime_UTR_variant,,ENST00000590409,;NLRP11,downstream_gene_variant,,ENST00000593244,;	uc010ygf.1	c.2658T>A	2752/3417	2	2			c.2658T>A						19	SNP	c.(2656-2658)CAT>CAA	46	46			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6	Broad	NLR family, pyrin domain containing 11			56300621		0.453	ENSG00000179873	10285	g.chr19:56300621A>T			ATP binding							154.301456	KEEP	36	32	-1	99	115	36	32	-1	170.042957	99	115	0.242308	1	0	0	0	0	1	0	0	0	--	--		0	T			NLRP11_uc002qlz.2_Missense_Mutation_p.H733Q|NLRP11_uc002qmb.2_Missense_Mutation_p.H787Q|NLRP11_uc002qmc.2_RNA	150	GBM-14-2554-TP	p.H886Q	A	TGCAGTTGGGATGTCTCAAAC	NM_145007	NP_659444	56300621	P59045	NAL11_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0325)	10	3369	-	T	T		Colorectal(82;0.0002)	Missense_Mutation	886						
NLRP11	0	broad.mit.edu	GRCh37	19	56320357	56320357	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1836-01	TCGA-27-1836-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589093.1:c.1619C>T	p.Thr540Met	p.T540M	ENST00000589093		540	aCg/aTg	0	A:0		1			A	T/M	uc010ygf.1	protein_coding		CCDS12935.1			1619/3102									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6	c.(1618-1620)ACG>ATG			hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF62	NLR family, pyrin domain containing 11			A:0.0001	ENSP00000466285		10-Mar	6.59E-05					0.00012			rs374796362,COSM269724	10-Mar	.		ENST00000589093	Transcript					ATP binding	ENSG00000179873	g.chr19:56320357G>A	22945			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=NAL11_HUMAN&rb=517&re=716&var=T540M	getma.org/pdb.php?prot=NAL11_HUMAN&from=517&to=716&var=T540M	getma.org/?cm=var&var=hg19,19,56320357,G,A&fts=all	T540M	1.935	medium	1																																		NLRP11_uc002qlz.2_Missense_Mutation_p.T441M|NLRP11_uc002qmb.2_Missense_Mutation_p.T441M|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	0,1			benign(0.178)	p.T540M	NM_145007	NP_659444		deleterious(0.02)	0,1	NAL11_HUMAN	NLRP11	HGNC	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	K7ESF9_HUMAN		5	2330	-		Colorectal(82;0.0002)	UPI000013ED9D	540					SNV	NLRP11,missense_variant,p.Thr540Met,ENST00000443188,NM_145007.3;NLRP11,missense_variant,p.Thr540Met,ENST00000360133,;NLRP11,missense_variant,p.Thr540Met,ENST00000589093,;NLRP11,missense_variant,p.Thr540Met,ENST00000589824,;NLRP11,missense_variant,p.Thr441Met,ENST00000592953,;NLRP11,downstream_gene_variant,,ENST00000593208,;NLRP11,missense_variant,p.Thr441Met,ENST00000590409,;NLRP11,missense_variant,p.Thr540Met,ENST00000593244,;	uc010ygf.1	c.1619C>T	1713/3417	2	2			c.1619C>T						19	SNP	c.(1618-1620)ACG>ATG	34	34			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6	Broad	NLR family, pyrin domain containing 11			56320357		0.448	ENSG00000179873	10285	g.chr19:56320357G>A			ATP binding							213.872371	KEEP	39	45	-1	93	115	39	45	-1	224.640783	93	115	0.288889	1	0	0	0	0	1	0	0	0	1.935	medium		0	A			NLRP11_uc002qlz.2_Missense_Mutation_p.T441M|NLRP11_uc002qmb.2_Missense_Mutation_p.T441M|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	195	GBM-27-1836-TP	p.T540M	G	CATATGGTGCGTCAACTTTTC	NM_145007	NP_659444	56320357	P59045	NAL11_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0325)	5	2330	-	A	A		Colorectal(82;0.0002)	Missense_Mutation	540						
NLRP11	204801		GRCh37	19	56313012	56313012	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000443188.1:c.2097G>C	p.Thr699=	p.T699=	ENST00000443188	NM_145007.3	699	acG/acC	0																																																																																																																																																																																																																																												
NLRP12	91662	broad.mit.edu	GRCh37	19	54313742	54313742	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0132-01	TCGA-06-0132-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324134.6:c.1171G>A	p.Val391Met	p.V391M	ENST00000324134	NM_144687.3	391	Gtg/Atg	0			1			T	V/M	uc002qch.3	protein_coding	YES	CCDS12864.1			1171/3186									ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	c.(1171-1173)GTG>ATG			PROSITE_profiles:PS50837,hmmpanther:PTHR24106:SF6,hmmpanther:PTHR24106	NLR family, pyrin domain containing 12 isoform				ENSP00000319377		10-Mar	1.65E-05							0.000121	rs199512582,COSM3404552,COSM3404553	10-Mar	.		ENST00000324134	Transcript	1		negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	ENSG00000142405	g.chr19:54313742C>T	22938			MODERATE		1.57	low	getma.org/?cm=msa&ty=f&p=NAL12_HUMAN&rb=211&re=528&var=V391M	NA	getma.org/?cm=var&var=hg19,19,54313742,C,T&fts=all	V391M	--	--	1																																		NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.V391M|NLRP12_uc002qcj.3_Missense_Mutation_p.V391M|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.V391M	0,1,1	1		benign(0.117)	p.V391M	NM_144687	NP_653288		tolerated(0.08)	0,1,1	NAL12_HUMAN	NLRP12	HGNC	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)			3	1391	-	Ovarian(34;0.19)		UPI00001412CE	391			NACHT.		SNV	NLRP12,missense_variant,p.Val391Met,ENST00000324134,NM_144687.3,NM_001277126.1;NLRP12,missense_variant,p.Val391Met,ENST00000391773,;NLRP12,missense_variant,p.Val391Met,ENST00000535162,;NLRP12,missense_variant,p.Val391Met,ENST00000345770,;NLRP12,missense_variant,p.Val391Met,ENST00000351894,;NLRP12,missense_variant,p.Val391Met,ENST00000391775,NM_001277129.1;NLRP12,missense_variant,p.Val391Met,ENST00000354278,;NLRP12,missense_variant,p.Val391Met,ENST00000391772,;NLRP12,upstream_gene_variant,,ENST00000492915,;	uc002qch.3	c.1171G>A	1340/3801	2	2			c.1171G>A						19	SNP	c.(1171-1173)GTG>ATG	43	43			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Broad	NLR family, pyrin domain containing 12 isoform			54313742		0.562	ENSG00000142405	10286	g.chr19:54313742C>T	negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding							31.743561	KEEP	22	23	-1	138	208	22	23	-1	82.115135	138	208	0.112094	1	0	0	0	0	1	0	0	0	--	--		0	T			NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.V391M|NLRP12_uc002qcj.3_Missense_Mutation_p.V391M|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.V391M	17	GBM-06-0132-TP	p.V391M	C	TTGTCCCTCACGTAATTGAAG	NM_144687	NP_653288	54313742	P59046	NAL12_HUMAN	0		GBM - Glioblastoma multiforme(134;0.026)	3	1391	-	T	T	Ovarian(34;0.19)		Missense_Mutation	391			NACHT.			
NLRP12	91662	broad.mit.edu	GRCh37	19	54314437	54314437	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0190-01	TCGA-06-0190-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324134.6:c.476G>A	p.Arg159Gln	p.R159Q	ENST00000324134	NM_144687.3	159	cGg/cAg	0			1			T	R/Q	uc002qch.3	protein_coding	YES	CCDS12864.1			476/3186									ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	c.(475-477)CGG>CAG			hmmpanther:PTHR24106:SF6,hmmpanther:PTHR24106,Pfam_domain:PF14484	NLR family, pyrin domain containing 12 isoform				ENSP00000319377		10-Mar									COSM3404558,COSM3404559	10-Mar	.		ENST00000324134	Transcript	1		negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	ENSG00000142405	g.chr19:54314437C>T	22938			MODERATE		1.465	low	getma.org/?cm=msa&ty=f&p=NAL12_HUMAN&rb=92&re=210&var=R159Q	NA	getma.org/?cm=var&var=hg19,19,54314437,C,T&fts=all	R159Q	--	--	1																																		NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.R159Q|NLRP12_uc002qcj.3_Missense_Mutation_p.R159Q|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.R159Q	1,1	1		benign(0.256)	p.R159Q	NM_144687	NP_653288		tolerated(0.12)	1,1	NAL12_HUMAN	NLRP12	HGNC	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)			3	696	-	Ovarian(34;0.19)		UPI00001412CE	159					SNV	NLRP12,missense_variant,p.Arg159Gln,ENST00000324134,NM_144687.3,NM_001277126.1;NLRP12,missense_variant,p.Arg159Gln,ENST00000391773,;NLRP12,missense_variant,p.Arg159Gln,ENST00000535162,;NLRP12,missense_variant,p.Arg159Gln,ENST00000345770,;NLRP12,missense_variant,p.Arg159Gln,ENST00000351894,;NLRP12,missense_variant,p.Arg159Gln,ENST00000391775,NM_001277129.1;NLRP12,missense_variant,p.Arg159Gln,ENST00000354278,;NLRP12,missense_variant,p.Arg159Gln,ENST00000391772,;NLRP12,upstream_gene_variant,,ENST00000492915,;	uc002qch.3	c.476G>A	645/3801	2	2			c.476G>A						19	SNP	c.(475-477)CGG>CAG	43	43			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Broad	NLR family, pyrin domain containing 12 isoform			54314437		0.617	ENSG00000142405	10286	g.chr19:54314437C>T	negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding							170.03191	KEEP	36	29	-1	65	88	36	29	-1	176.600325	65	88	0.306122	1	0	0	0	0	1	0	0	0	--	--		0	T			NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.R159Q|NLRP12_uc002qcj.3_Missense_Mutation_p.R159Q|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.R159Q	43	GBM-06-0190-TP	p.R159Q	C	CAGCAGGAGCCGGGTGTACCG	NM_144687	NP_653288	54314437	P59046	NAL12_HUMAN	0		GBM - Glioblastoma multiforme(134;0.026)	3	696	-	T	T	Ovarian(34;0.19)		Missense_Mutation	159						
NLRP12	91662	broad.mit.edu	GRCh37	19	54304629	54304629	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0216-01	TCGA-06-0216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324134.6:c.2608G>A	p.Ala870Thr	p.A870T	ENST00000324134	NM_144687.3	870	Gct/Act	0			1			T	A/T	uc002qch.3	protein_coding	YES	CCDS12864.1			2608/3186									ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	c.(2608-2610)GCT>ACT			hmmpanther:PTHR24106:SF6,hmmpanther:PTHR24106,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047	NLR family, pyrin domain containing 12 isoform				ENSP00000319377		10-Jul									COSM2150880,COSM2150881	10-Jul	.		ENST00000324134	Transcript	1		negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	ENSG00000142405	g.chr19:54304629C>T	22938			MODERATE		1.81	low	getma.org/?cm=msa&ty=f&p=NAL12_HUMAN&rb=850&re=882&var=A870T	getma.org/pdb.php?prot=NAL12_HUMAN&from=850&to=882&var=A870T	getma.org/?cm=var&var=hg19,19,54304629,C,T&fts=all	A870T	--	--	1																																		NLRP12_uc010eqw.2_Missense_Mutation_p.A153T|NLRP12_uc002qci.3_Missense_Mutation_p.A870T|NLRP12_uc002qcj.3_Missense_Mutation_p.A871T|NLRP12_uc002qck.3_Intron|NLRP12_uc010eqx.2_Intron	1,1	1		benign(0.269)	p.A870T	NM_144687	NP_653288		tolerated(0.17)	1,1	NAL12_HUMAN	NLRP12	HGNC	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)			7	2828	-	Ovarian(34;0.19)		UPI00001412CE	870			LRR 2.		SNV	NLRP12,missense_variant,p.Ala870Thr,ENST00000324134,NM_144687.3,NM_001277126.1;NLRP12,missense_variant,p.Ala871Thr,ENST00000391773,;NLRP12,missense_variant,p.Ala870Thr,ENST00000535162,;NLRP12,missense_variant,p.Ala871Thr,ENST00000345770,;NLRP12,missense_variant,p.Ala870Thr,ENST00000391775,NM_001277129.1;NLRP12,intron_variant,,ENST00000351894,;NLRP12,intron_variant,,ENST00000354278,;NLRP12,intron_variant,,ENST00000391772,;NLRP12,non_coding_transcript_exon_variant,,ENST00000492915,;	uc002qch.3	c.2608G>A	2777/3801	2	2			c.2608G>A						19	SNP	c.(2608-2610)GCT>ACT	24	24			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Broad	NLR family, pyrin domain containing 12 isoform			54304629		0.468	ENSG00000142405	10286	g.chr19:54304629C>T	negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding							48.09988	KEEP	8	13	-1	25	20	8	13	-1	49.76172	25	20	0.322034	1	0	0	0	0	1	0	0	0	--	--		0	T			NLRP12_uc010eqw.2_Missense_Mutation_p.A153T|NLRP12_uc002qci.3_Missense_Mutation_p.A870T|NLRP12_uc002qcj.3_Missense_Mutation_p.A871T|NLRP12_uc002qck.3_Intron|NLRP12_uc010eqx.2_Intron	51	GBM-06-0216-TP	p.A870T	C	CAGGCAGCAGCAGTGAGGCGG	NM_144687	NP_653288	54304629	P59046	NAL12_HUMAN	0		GBM - Glioblastoma multiforme(134;0.026)	7	2828	-	T	T	Ovarian(34;0.19)		Missense_Mutation	870			LRR 2.			
NLRP12	0	broad.mit.edu	GRCh37	19	54314124	54314124	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324134.6:c.789C>T	p.Ser263=	p.S263=	ENST00000324134	NM_144687.3	263	agC/agT	0			1			A	S	uc002qch.3	protein_coding	YES	CCDS12864.1			789/3186									ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	c.(787-789)AGC>AGT			PROSITE_profiles:PS50837,hmmpanther:PTHR24106:SF6,hmmpanther:PTHR24106,Gene3D:3.40.50.300,Pfam_domain:PF05729,Superfamily_domains:SSF52540	NLR family, pyrin domain containing 12 isoform				ENSP00000319377		10-Mar									COSM3404556,COSM3404557	10-Mar	.		ENST00000324134	Transcript	1		negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	ENSG00000142405	g.chr19:54314124G>A	22938			LOW								--	--	1																																		NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.S263S|NLRP12_uc002qcj.3_Silent_p.S263S|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.S263S	1,1	1			p.S263S	NM_144687	NP_653288			1,1	NAL12_HUMAN	NLRP12	HGNC	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)			3	1009	-	Ovarian(34;0.19)		UPI00001412CE	263			NACHT.		SNV	NLRP12,synonymous_variant,p.=,ENST00000324134,NM_144687.3,NM_001277126.1;NLRP12,synonymous_variant,p.=,ENST00000391773,;NLRP12,synonymous_variant,p.=,ENST00000535162,;NLRP12,synonymous_variant,p.=,ENST00000345770,;NLRP12,synonymous_variant,p.=,ENST00000351894,;NLRP12,synonymous_variant,p.=,ENST00000391775,NM_001277129.1;NLRP12,synonymous_variant,p.=,ENST00000354278,;NLRP12,synonymous_variant,p.=,ENST00000391772,;NLRP12,upstream_gene_variant,,ENST00000492915,;	uc002qch.3	c.789C>T	958/3801	2	2			c.789C>T						19	SNP	c.(787-789)AGC>AGT	39	39			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Broad	NLR family, pyrin domain containing 12 isoform			54314124		0.567	ENSG00000142405	10286	g.chr19:54314124G>A	negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding							78.695205	KEEP	17	17	-1	31	27	17	17	-1	79.864828	31	27	0.373494	1	0	0	0	0	0	0	1	0	--	--		0	A			NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.S263S|NLRP12_uc002qcj.3_Silent_p.S263S|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.S263S	131	GBM-12-5301-TP	p.S263S	G	GGTCTTGCATGCTGCATTCCG	NM_144687	NP_653288	54314124	P59046	NAL12_HUMAN	0		GBM - Glioblastoma multiforme(134;0.026)	3	1009	-	A	A	Ovarian(34;0.19)		Silent	263			NACHT.			
NLRP12	0	broad.mit.edu	GRCh37	19	54312882	54312882	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0740-01	TCGA-14-0740-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324134.6:c.2031C>T	p.Arg677=	p.R677=	ENST00000324134	NM_144687.3	677	cgC/cgT	0			1			A	R	uc002qch.3	protein_coding	YES	CCDS12864.1			2031/3186									ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	c.(2029-2031)CGC>CGT			hmmpanther:PTHR24106:SF6,hmmpanther:PTHR24106,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	NLR family, pyrin domain containing 12 isoform				ENSP00000319377		10-Mar	8.24E-06					1.56E-05			rs747097064,COSM1326196,COSM3404549	10-Mar	.		ENST00000324134	Transcript	1		negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	ENSG00000142405	g.chr19:54312882G>A	22938			LOW								--	--	1																																		NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.R677R|NLRP12_uc002qcj.3_Silent_p.R677R|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.R677R	0,1,1	1			p.R677R	NM_144687	NP_653288			0,1,1	NAL12_HUMAN	NLRP12	HGNC	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)			3	2251	-	Ovarian(34;0.19)		UPI00001412CE	677					SNV	NLRP12,synonymous_variant,p.=,ENST00000324134,NM_144687.3,NM_001277126.1;NLRP12,synonymous_variant,p.=,ENST00000391773,;NLRP12,synonymous_variant,p.=,ENST00000535162,;NLRP12,synonymous_variant,p.=,ENST00000345770,;NLRP12,synonymous_variant,p.=,ENST00000351894,;NLRP12,synonymous_variant,p.=,ENST00000391775,NM_001277129.1;NLRP12,synonymous_variant,p.=,ENST00000354278,;NLRP12,synonymous_variant,p.=,ENST00000391772,;NLRP12,upstream_gene_variant,,ENST00000492915,;	uc002qch.3	c.2031C>T	2200/3801	2	2			c.2031C>T						19	SNP	c.(2029-2031)CGC>CGT	42	42			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Broad	NLR family, pyrin domain containing 12 isoform			54312882		0.587	ENSG00000142405	10286	g.chr19:54312882G>A	negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding							24.641625	KEEP	4	6	-1	9	18	4	6	-1	25.928615	9	18	0.294118	1	0	0	0	0	0	0	1	0	--	--		0	A			NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.R677R|NLRP12_uc002qcj.3_Silent_p.R677R|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.R677R	132	GBM-14-0740-TP	p.R677R	G	AGCACCTCGCGCGGTCTTCCC	NM_144687	NP_653288	54312882	P59046	NAL12_HUMAN	0		GBM - Glioblastoma multiforme(134;0.026)	3	2251	-	A	A	Ovarian(34;0.19)		Silent	677						
NLRP12	0	broad.mit.edu	GRCh37	19	54327194	54327194	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1829-01	TCGA-14-1829-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324134.6:c.235C>T	p.Arg79Trp	p.R79W	ENST00000324134	NM_144687.3	79	Cgg/Tgg	0			1			A	R/W	uc002qch.3	protein_coding	YES	CCDS12864.1			235/3186									ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	c.(235-237)CGG>TGG			PROSITE_profiles:PS50824,hmmpanther:PTHR24106:SF6,hmmpanther:PTHR24106,Pfam_domain:PF02758,Gene3D:1.10.533.10,Superfamily_domains:SSF47986	NLR family, pyrin domain containing 12 isoform				ENSP00000319377		10-Jan	8.24E-06					1.53E-05			rs777735292,COSM3404562,COSM3404563	10-Jan	.		ENST00000324134	Transcript	1		negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	ENSG00000142405	g.chr19:54327194G>A	22938			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=NAL12_HUMAN&rb=10&re=91&var=R79W	getma.org/pdb.php?prot=NAL12_HUMAN&from=10&to=91&var=R79W	getma.org/?cm=var&var=hg19,19,54327194,G,A&fts=all	R79W	--	--	1																																		NLRP12_uc002qci.3_Missense_Mutation_p.R79W|NLRP12_uc002qcj.3_Missense_Mutation_p.R79W|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.R79W	0,1,1	1		benign(0.126)	p.R79W	NM_144687	NP_653288		tolerated(0.05)	0,1,1	NAL12_HUMAN	NLRP12	HGNC	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)			1	455	-	Ovarian(34;0.19)		UPI00001412CE	79			DAPIN.		SNV	NLRP12,missense_variant,p.Arg79Trp,ENST00000324134,NM_144687.3,NM_001277126.1;NLRP12,missense_variant,p.Arg79Trp,ENST00000391773,;NLRP12,missense_variant,p.Arg79Trp,ENST00000535162,;NLRP12,missense_variant,p.Arg79Trp,ENST00000345770,;NLRP12,missense_variant,p.Arg79Trp,ENST00000351894,;NLRP12,missense_variant,p.Arg79Trp,ENST00000391775,NM_001277129.1;NLRP12,missense_variant,p.Arg79Trp,ENST00000354278,;NLRP12,missense_variant,p.Arg79Trp,ENST00000391772,;	uc002qch.3	c.235C>T	404/3801	1	1			c.235C>T						19	SNP	c.(235-237)CGG>TGG	51	51			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Broad	NLR family, pyrin domain containing 12 isoform			54327194		0.582	ENSG00000142405	10286	g.chr19:54327194G>A	negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding							213.508964	KEEP	55	46	-1	144	130	55	46	-1	229.258805	144	130	0.264331	1	0	0	0	0	1	0	0	0	--	--		0	A			NLRP12_uc002qci.3_Missense_Mutation_p.R79W|NLRP12_uc002qcj.3_Missense_Mutation_p.R79W|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.R79W	149	GBM-14-1829-TP	p.R79W	G	CTGTTTATCCGCTCAAAGGTG	NM_144687	NP_653288	54327194	P59046	NAL12_HUMAN	0		GBM - Glioblastoma multiforme(134;0.026)	1	455	-	A	A	Ovarian(34;0.19)		Missense_Mutation	79			DAPIN.			
NLRP12	0	broad.mit.edu	GRCh37	19	54314485	54314485	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324134.6:c.428G>A	p.Arg143His	p.R143H	ENST00000324134	NM_144687.3	143	cGc/cAc	0			1			T	R/H	uc002qch.3	protein_coding	YES	CCDS12864.1			428/3186									ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	c.(427-429)CGC>CAC			hmmpanther:PTHR24106:SF6,hmmpanther:PTHR24106,Pfam_domain:PF14484	NLR family, pyrin domain containing 12 isoform				ENSP00000319377		10-Mar	2.47E-05					4.54E-05			rs760185291,COSM3404560,COSM3404561	10-Mar	.		ENST00000324134	Transcript	1		negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	ENSG00000142405	g.chr19:54314485C>T	22938			MODERATE		2.455	medium	getma.org/?cm=msa&ty=f&p=NAL12_HUMAN&rb=92&re=210&var=R143H	NA	getma.org/?cm=var&var=hg19,19,54314485,C,T&fts=all	R143H	--	--	1																																		NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.R143H|NLRP12_uc002qcj.3_Missense_Mutation_p.R143H|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.R143H	0,1,1	1		probably_damaging(0.999)	p.R143H	NM_144687	NP_653288		deleterious(0)	0,1,1	NAL12_HUMAN	NLRP12	HGNC	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)			3	648	-	Ovarian(34;0.19)		UPI00001412CE	143					SNV	NLRP12,missense_variant,p.Arg143His,ENST00000324134,NM_144687.3,NM_001277126.1;NLRP12,missense_variant,p.Arg143His,ENST00000391773,;NLRP12,missense_variant,p.Arg143His,ENST00000535162,;NLRP12,missense_variant,p.Arg143His,ENST00000345770,;NLRP12,missense_variant,p.Arg143His,ENST00000351894,;NLRP12,missense_variant,p.Arg143His,ENST00000391775,NM_001277129.1;NLRP12,missense_variant,p.Arg143His,ENST00000354278,;NLRP12,missense_variant,p.Arg143His,ENST00000391772,;NLRP12,upstream_gene_variant,,ENST00000492915,;	uc002qch.3	c.428G>A	597/3801	2	2			c.428G>A						19	SNP	c.(427-429)CGC>CAC	43	43			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Broad	NLR family, pyrin domain containing 12 isoform			54314485		0.567	ENSG00000142405	10286	g.chr19:54314485C>T	negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding							54.161964	KEEP	20	26	-1	150	185	20	26	-1	93.009308	150	185	0.135762	1	0	0	0	0	1	0	0	0	--	--		0	T			NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.R143H|NLRP12_uc002qcj.3_Missense_Mutation_p.R143H|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.R143H	229	GBM-32-1977-TP	p.R143H	C	GCGCGCATTGCGGTCTTCCAT	NM_144687	NP_653288	54314485	P59046	NAL12_HUMAN	0		GBM - Glioblastoma multiforme(134;0.026)	3	648	-	T	T	Ovarian(34;0.19)		Missense_Mutation	143						
NLRP12	0	broad.mit.edu	GRCh37	19	54312898	54312898	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-81-5910-01	TCGA-81-5910-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324134.6:c.2015C>T	p.Ala672Val	p.A672V	ENST00000324134	NM_144687.3	672	gCg/gTg	0			1			A	A/V	uc002qch.3	protein_coding	YES	CCDS12864.1			2015/3186									ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	c.(2014-2016)GCG>GTG			hmmpanther:PTHR24106:SF6,hmmpanther:PTHR24106,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	NLR family, pyrin domain containing 12 isoform				ENSP00000319377		10-Mar	1.65E-05	0.0001	8.74E-05						rs376751517,COSM3404550,COSM3404551	10-Mar	.		ENST00000324134	Transcript	1		negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	ENSG00000142405	g.chr19:54312898G>A	22938			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=NAL12_HUMAN&rb=582&re=711&var=A672V	NA	getma.org/?cm=var&var=hg19,19,54312898,G,A&fts=all	A672V	--	--	1																																		NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.A672V|NLRP12_uc002qcj.3_Missense_Mutation_p.A672V|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.A672V	0,1,1	1		benign(0.173)	p.A672V	NM_144687	NP_653288		tolerated(0.28)	0,1,1	NAL12_HUMAN	NLRP12	HGNC	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)			3	2235	-	Ovarian(34;0.19)		UPI00001412CE	672					SNV	NLRP12,missense_variant,p.Ala672Val,ENST00000324134,NM_144687.3,NM_001277126.1;NLRP12,missense_variant,p.Ala672Val,ENST00000391773,;NLRP12,missense_variant,p.Ala672Val,ENST00000535162,;NLRP12,missense_variant,p.Ala672Val,ENST00000345770,;NLRP12,missense_variant,p.Ala672Val,ENST00000351894,;NLRP12,missense_variant,p.Ala672Val,ENST00000391775,NM_001277129.1;NLRP12,missense_variant,p.Ala672Val,ENST00000354278,;NLRP12,missense_variant,p.Ala672Val,ENST00000391772,;NLRP12,upstream_gene_variant,,ENST00000492915,;	uc002qch.3	c.2015C>T	2184/3801	1	1			c.2015C>T						19	SNP	c.(2014-2016)GCG>GTG	54	54			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Broad	NLR family, pyrin domain containing 12 isoform			54312898		0.622	ENSG00000142405	10286	g.chr19:54312898G>A	negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding							29.714308	KEEP	8	3	-1	7	18	8	3	-1	30.653646	7	18	0.323529	1	0	0	0	0	1	0	0	0	--	--		0	A			NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.A672V|NLRP12_uc002qcj.3_Missense_Mutation_p.A672V|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.A672V	289	GBM-81-5910-TP	p.A672V	G	TTCCCCGTCCGCGCTGTAGGT	NM_144687	NP_653288	54312898	P59046	NAL12_HUMAN	0		GBM - Glioblastoma multiforme(134;0.026)	3	2235	-	A	A	Ovarian(34;0.19)		Missense_Mutation	672						
NLRP12	91662		GRCh37	19	54313743	54313743	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000324134.6:c.1170C>T	p.Tyr390=	p.Y390=	ENST00000324134	NM_144687.3	390	taC/taT	0																																																																																																																																																																																																																																												
NLRP13	126204	broad.mit.edu	GRCh37	19	56424570	56424570	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0211-01	TCGA-06-0211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342929.3:c.613C>T	p.Arg205Cys	p.R205C	ENST00000342929	NM_176810.2	205	Cgt/Tgt	0			1			A	R/C	uc010ygg.1	protein_coding	YES	CCDS33119.1			613/3132									skin(4)|ovary(3)|pancreas(1)|lung(1)	9	c.(613-615)CGT>TGT			hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF10	NACHT, leucine rich repeat and PYD containing				ENSP00000343891		11-May									COSM2150782	11-May	.		ENST00000342929	Transcript					ATP binding	ENSG00000173572	g.chr19:56424570G>A	22937			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=NAL13_HUMAN&rb=104&re=228&var=R205C	NA	getma.org/?cm=var&var=hg19,19,56424570,G,A&fts=all	R205C	--	--	1																																			1	1		benign(0.018)	p.R205C	NM_176810	NP_789780		tolerated(0.12)	1	NAL13_HUMAN	NLRP13	HGNC	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)			5	638	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	UPI00001AEEC8	205					SNV	NLRP13,missense_variant,p.Arg205Cys,ENST00000588751,;NLRP13,missense_variant,p.Arg205Cys,ENST00000342929,NM_176810.2;	uc010ygg.1	c.613C>T	613/3132	2	2			c.613C>T						19	SNP	c.(613-615)CGT>TGT	29	29			skin(4)|ovary(3)|pancreas(1)|lung(1)	9	Broad	NACHT, leucine rich repeat and PYD containing			56424570		0.498	ENSG00000173572	10287	g.chr19:56424570G>A			ATP binding							286.008085	KEEP	62	62	-1	206	184	62	62	-1	315.353743	206	184	0.237687	1	0	0	0	0	1	0	0	0	--	--		0	A				48	GBM-06-0211-TP	p.R205C	G	GATGTATTACGGATATATACG	NM_176810	NP_789780	56424570	Q86W25	NAL13_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0642)	5	638	-	A	A		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	Missense_Mutation	205						
NLRP13	0	broad.mit.edu	GRCh37	19	56423467	56423467	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-5133-01	TCGA-26-5133-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342929.3:c.1716C>T	p.His572=	p.H572=	ENST00000342929	NM_176810.2	572	caC/caT	0			1			A	H	uc010ygg.1	protein_coding	YES	CCDS33119.1			1716/3132									skin(4)|ovary(3)|pancreas(1)|lung(1)	9	c.(1714-1716)CAC>CAT			hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF10	NACHT, leucine rich repeat and PYD containing				ENSP00000343891		11-May									COSM3404662	11-May	.		ENST00000342929	Transcript					ATP binding	ENSG00000173572	g.chr19:56423467G>A	22937			LOW								--	--	1																																			1	1			p.H572H	NM_176810	NP_789780			1	NAL13_HUMAN	NLRP13	HGNC	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)			5	1741	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	UPI00001AEEC8	572					SNV	NLRP13,synonymous_variant,p.=,ENST00000588751,;NLRP13,synonymous_variant,p.=,ENST00000342929,NM_176810.2;	uc010ygg.1	c.1716C>T	1716/3132	1	1			c.1716C>T						19	SNP	c.(1714-1716)CAC>CAT	58	58			skin(4)|ovary(3)|pancreas(1)|lung(1)	9	Broad	NACHT, leucine rich repeat and PYD containing			56423467		0.423	ENSG00000173572	10287	g.chr19:56423467G>A			ATP binding							-22.386677	KEEP	9	7	-1	137	128	9	7	-1	30.696577	137	128	0.057915	1	0	0	0	0	0	0	1	0	--	--		0	A				182	GBM-26-5133-TP	p.H572H	G	CAAGCAAGACGTGTTGCAGTA	NM_176810	NP_789780	56423467	Q86W25	NAL13_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0642)	5	1741	-	A	A		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	Silent	572						
NLRP13	0	broad.mit.edu	GRCh37	19	56423179	56423179	+	synonymous_variant	Silent	SNP	G	G	A	rs140606375	byFrequency	TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342929.3:c.2004C>T	p.Asp668=	p.D668=	ENST00000342929	NM_176810.2	668	gaC/gaT	0	A:0.0011	A:0.0008	1	A:0		A	D	uc010ygg.1	protein_coding	YES	CCDS33119.1			2004/3132									skin(4)|ovary(3)|pancreas(1)|lung(1)	9	c.(2002-2004)GAC>GAT			hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF10,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	NACHT, leucine rich repeat and PYD containing		A:0	A:0	ENSP00000343891	A:0	11-May	0.000107	0.00039				0.000135			rs140606375,COSM3404661	11-May	.		ENST00000342929	Transcript		A:0.0002			ATP binding	ENSG00000173572	g.chr19:56423179G>A	22937			LOW								--	--	1																																			0,1	1			p.D668D	NM_176810	NP_789780	A:0		0,1	NAL13_HUMAN	NLRP13	HGNC	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)			5	2029	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	UPI00001AEEC8	668					SNV	NLRP13,synonymous_variant,p.=,ENST00000588751,;NLRP13,synonymous_variant,p.=,ENST00000342929,NM_176810.2;	uc010ygg.1	c.2004C>T	2004/3132	1	1			c.2004C>T						19	SNP	c.(2002-2004)GAC>GAT	61	61			skin(4)|ovary(3)|pancreas(1)|lung(1)	9	Broad	NACHT, leucine rich repeat and PYD containing			56423179		0.408	ENSG00000173572	10287	g.chr19:56423179G>A			ATP binding							137.126531	KEEP	42	25	-1	153	112	42	25	-1	164.069652	153	112	0.195513	1	0	0	0	0	0	0	1	0	--	--		0	A				232	GBM-32-1982-TP	p.D668D	G	GGAGTTCTTCGTCCTCCAAAA	NM_176810	NP_789780	56423179	Q86W25	NAL13_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0642)	5	2029	-	A	A		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	Silent	668						
NLRP13	0	broad.mit.edu	GRCh37	19	56422072	56422072	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-4210-01	TCGA-32-4210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342929.3:c.2139C>T	p.His713=	p.H713=	ENST00000342929	NM_176810.2	713	caC/caT	0			1			A	H	uc010ygg.1	protein_coding	YES	CCDS33119.1			2139/3132									skin(4)|ovary(3)|pancreas(1)|lung(1)	9	c.(2137-2139)CAC>CAT			hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF10,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	NACHT, leucine rich repeat and PYD containing				ENSP00000343891		11-Jun	0.000124		0.000346	0.00127					rs185367421,COSM364487	11-Jun	common_variant		ENST00000342929	Transcript					ATP binding	ENSG00000173572	g.chr19:56422072G>A	22937			LOW								--	--	1																																			0,1	1			p.H713H	NM_176810	NP_789780			0,1	NAL13_HUMAN	NLRP13	HGNC	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)			6	2164	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	UPI00001AEEC8	713					SNV	NLRP13,synonymous_variant,p.=,ENST00000588751,;NLRP13,synonymous_variant,p.=,ENST00000342929,NM_176810.2;	uc010ygg.1	c.2139C>T	2139/3132	2	2			c.2139C>T						19	SNP	c.(2137-2139)CAC>CAT	17	17			skin(4)|ovary(3)|pancreas(1)|lung(1)	9	Broad	NACHT, leucine rich repeat and PYD containing			56422072		0.463	ENSG00000173572	10287	g.chr19:56422072G>A			ATP binding							38.08128	KEEP	11	19	-1	97	92	11	19	-1	62.980145	97	92	0.137755	1	0	0	0	0	0	0	1	0	--	--		0	A				245	GBM-32-4210-TP	p.H713H	G	TGTTCCATGCGTGCATCCTGG	NM_176810	NP_789780	56422072	Q86W25	NAL13_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0642)	6	2164	-	A	A		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	Silent	713						
NLRP13	126204		GRCh37	19	56407321	56407321	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000342929.3:c.3122A>T	p.Lys1041Ile	p.K1041I	ENST00000342929	NM_176810.2	1041	aAa/aTa	0																																																																																																																																																																																																																																												
NLRP14	0	broad.mit.edu	GRCh37	11	7065151	7065151	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-5950-01	TCGA-19-5950-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299481.4:c.1894A>G	p.Arg632Gly	p.R632G	ENST00000299481	NM_176822.3	632	Agg/Ggg	0			1			G	R/G	uc001mfb.1	protein_coding	YES	CCDS7776.1			1894/3282									ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8	c.(1894-1896)AGG>GGG			hmmpanther:PTHR24106:SF82,hmmpanther:PTHR24106	NLR family, pyrin domain containing 14				ENSP00000299481		12-Apr									COSM1259213	12-Apr	.		ENST00000299481	Transcript			cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	ENSG00000158077	g.chr11:7065151A>G	22939			MODERATE		2.18	medium	getma.org/?cm=msa&ty=f&p=NAL14_HUMAN&rb=547&re=727&var=R632G	NA	getma.org/?cm=var&var=hg19,11,7065151,A,G&fts=all	R632G	--	--	1																																			1	1		benign(0.076)	p.R632G	NM_176822	NP_789792		deleterious(0)	1	NAL14_HUMAN	NLRP14	HGNC	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)			4	2217	+			UPI0000167F6E	632					SNV	NLRP14,missense_variant,p.Arg632Gly,ENST00000299481,NM_176822.3;	uc001mfb.1	c.1894A>G	2240/3628	3	3			c.1894A>G						11	SNP	c.(1894-1896)AGG>GGG	55	55			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8	Broad	NLR family, pyrin domain containing 14			7065151		0.423	ENSG00000158077	10288	g.chr11:7065151A>G	cell differentiation|multicellular organismal development|spermatogenesis		ATP binding							-14.858041	KEEP	1	2	-1	48	47	1	2	-1	7.092084	48	47	0.032609	1	0	0	0	0	1	0	0	0	--	--		0	G				170	GBM-19-5950-TP	p.R632G	A	GCGGACCATCAGGCTGTCTGT	NM_176822	NP_789792	7065151	Q86W24	NAL14_HUMAN	0		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	2217	+	G	G			Missense_Mutation	632						
NLRP14	338323		GRCh37	11	7083705	7083705	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000299481.4:c.2946A>G	p.Arg982=	p.R982=	ENST00000299481	NM_176822.3	982	agA/agG	0																																																																																																																																																																																																																																												
NLRP2	55655	broad.mit.edu	GRCh37	19	55505643	55505643	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000543010.1:c.2715G>A	p.Trp905Ter	p.W905*	ENST00000543010	NM_001174081.1	905	tgG/tgA	0			1			A	W/*	uc002qij.2	protein_coding		CCDS12913.1			2715/3189									ovary(1)|skin(1)	2	c.(2713-2715)TGG>TGA			Superfamily_domains:SSF52047,SMART_domains:SM00368,Pfam_domain:PF13516,Gene3D:3.80.10.10,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF14	NLR family, pyrin domain containing 2				ENSP00000409370		13-Nov										13-Nov	.		ENST00000448584	Transcript			apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	ENSG00000022556	g.chr19:55505643G>A	22948			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,19,55505643,G,A&fts=all	W905*	--	--	1																																		NLRP2_uc010yfp.1_Nonsense_Mutation_p.W882*|NLRP2_uc010esn.2_Nonsense_Mutation_p.W881*|NLRP2_uc010eso.2_Nonsense_Mutation_p.W902*|NLRP2_uc010esp.2_Nonsense_Mutation_p.W883*					p.W905*	NM_017852	NP_060322				NALP2_HUMAN	NLRP2	HGNC	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	K7EPE6_HUMAN,K7ELX1_HUMAN,K7EJ90_HUMAN,F5H7Q5_HUMAN,F5H5B1_HUMAN		11	2801	+			UPI000004C0CC	905			LRR 4.		SNV	NLRP2,stop_gained,p.Trp905Ter,ENST00000543010,NM_001174081.1;NLRP2,stop_gained,p.Trp905Ter,ENST00000448584,NM_001174083.1,NM_017852.3;NLRP2,stop_gained,p.Trp883Ter,ENST00000537859,NM_001174082.1;NLRP2,stop_gained,p.Trp902Ter,ENST00000263437,;NLRP2,stop_gained,p.Trp881Ter,ENST00000538819,;NLRP2,stop_gained,p.Trp883Ter,ENST00000339757,;NLRP2,stop_gained,p.Trp881Ter,ENST00000391721,;NLRP2,stop_gained,p.Trp882Ter,ENST00000427260,;NLRP2,downstream_gene_variant,,ENST00000586512,;NLRP2,3_prime_UTR_variant,,ENST00000543277,;NLRP2,non_coding_transcript_exon_variant,,ENST00000540597,;NLRP2,non_coding_transcript_exon_variant,,ENST00000542755,;NLRP2,downstream_gene_variant,,ENST00000381637,;	uc002qij.2	c.2715G>A	2857/3573	5	2			c.2715G>A						19	SNP	c.(2713-2715)TGG>TGA	44	44			ovary(1)|skin(1)	2	Broad	NLR family, pyrin domain containing 2			55505643		0.483	ENSG00000022556	10289	g.chr19:55505643G>A	apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding							62.524734	KEEP	15	14	-1	65	58	15	14	-1	74.649154	65	58	0.197183	1	0	0	0	0	0	1	0	0	--	--		0	A			NLRP2_uc010yfp.1_Nonsense_Mutation_p.W882*|NLRP2_uc010esn.2_Nonsense_Mutation_p.W881*|NLRP2_uc010eso.2_Nonsense_Mutation_p.W902*|NLRP2_uc010esp.2_Nonsense_Mutation_p.W883*	23	GBM-06-0145-TP	p.W905*	G	CTAGGCTTTGGAACTGCGACA	NM_017852	NP_060322	55505643	Q9NX02	NALP2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	11	2801	+	A	A			Nonsense_Mutation	905			LRR 4.			
NLRP2	55655	broad.mit.edu	GRCh37	19	55494686	55494686	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0154-01	TCGA-06-0154-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000543010.1:c.1620C>T	p.Ser540=	p.S540=	ENST00000543010	NM_001174081.1	540	tcC/tcT	0	T:0	T:0	1	T:0		T	S	uc002qij.2	protein_coding		CCDS12913.1			1620/3189									ovary(1)|skin(1)	2	c.(1618-1620)TCC>TCT			hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF14	NLR family, pyrin domain containing 2		T:0	T:0.0001	ENSP00000409370	T:0.001	13-Jun	3.29E-05					4.50E-05	0.00111		rs190374903,COSM2149943	13-Jun	.		ENST00000448584	Transcript		T:0.0002	apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	ENSG00000022556	g.chr19:55494686C>T	22948			LOW								--	--	1																																		NLRP2_uc010yfp.1_Silent_p.S517S|NLRP2_uc010esn.2_Silent_p.S516S|NLRP2_uc010eso.2_Silent_p.S537S|NLRP2_uc010esp.2_Silent_p.S518S	0,1				p.S540S	NM_017852	NP_060322	T:0		0,1	NALP2_HUMAN	NLRP2	HGNC	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	K7EPE6_HUMAN,K7ELX1_HUMAN,K7EJ90_HUMAN,F5H7Q5_HUMAN,F5H5B1_HUMAN		6	1706	+			UPI000004C0CC	540					SNV	NLRP2,synonymous_variant,p.=,ENST00000543010,NM_001174081.1;NLRP2,synonymous_variant,p.=,ENST00000448584,NM_001174083.1,NM_017852.3;NLRP2,synonymous_variant,p.=,ENST00000537859,NM_001174082.1;NLRP2,synonymous_variant,p.=,ENST00000263437,;NLRP2,synonymous_variant,p.=,ENST00000538819,;NLRP2,synonymous_variant,p.=,ENST00000339757,;NLRP2,synonymous_variant,p.=,ENST00000391721,;NLRP2,synonymous_variant,p.=,ENST00000427260,;NLRP2,upstream_gene_variant,,ENST00000540005,;NLRP2,downstream_gene_variant,,ENST00000588619,;NLRP2,downstream_gene_variant,,ENST00000585500,;NLRP2,downstream_gene_variant,,ENST00000397169,;NLRP2,downstream_gene_variant,,ENST00000433772,;NLRP2,non_coding_transcript_exon_variant,,ENST00000540597,;NLRP2,upstream_gene_variant,,ENST00000543277,;NLRP2,downstream_gene_variant,,ENST00000539848,;NLRP2,upstream_gene_variant,,ENST00000381637,;	uc002qij.2	c.1620C>T	1762/3573	2	2			c.1620C>T						19	SNP	c.(1618-1620)TCC>TCT	47	47			ovary(1)|skin(1)	2	Broad	NLR family, pyrin domain containing 2			55494686		0.552	ENSG00000022556	10289	g.chr19:55494686C>T	apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding							157.385547	KEEP	33	30	-1	59	56	33	30	-1	160.897724	59	56	0.337748	1	0	0	0	0	0	0	1	0	--	--		0	T			NLRP2_uc010yfp.1_Silent_p.S517S|NLRP2_uc010esn.2_Silent_p.S516S|NLRP2_uc010eso.2_Silent_p.S537S|NLRP2_uc010esp.2_Silent_p.S518S	26	GBM-06-0154-TP	p.S540S	C	AGCTGCTTTCCGGAGTAGAAA	NM_017852	NP_060322	55494686	Q9NX02	NALP2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	1706	+	T	T			Silent	540						
NLRP2	55655	broad.mit.edu	GRCh37	19	55494507	55494507	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0238-01	TCGA-06-0238-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000543010.1:c.1441C>T	p.Arg481Cys	p.R481C	ENST00000543010	NM_001174081.1	481	Cgt/Tgt	0			1			T	R/C	uc002qij.2	protein_coding		CCDS12913.1			1441/3189									ovary(1)|skin(1)	2	c.(1441-1443)CGT>TGT			hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF14	NLR family, pyrin domain containing 2				ENSP00000409370		13-Jun	8.24E-06		8.68E-05						rs770750785,COSM2151093	13-Jun	.		ENST00000448584	Transcript			apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	ENSG00000022556	g.chr19:55494507C>T	22948			MODERATE		0.95	low	getma.org/?cm=msa&ty=f&p=NALP2_HUMAN&rb=207&re=526&var=R481C	NA	getma.org/?cm=var&var=hg19,19,55494507,C,T&fts=all	R481C	--	--	1																																		NLRP2_uc010yfp.1_Missense_Mutation_p.R458C|NLRP2_uc010esn.2_Missense_Mutation_p.R457C|NLRP2_uc010eso.2_Missense_Mutation_p.R478C|NLRP2_uc010esp.2_Missense_Mutation_p.R459C	0,1			benign(0.001)	p.R481C	NM_017852	NP_060322		tolerated(0.24)	0,1	NALP2_HUMAN	NLRP2	HGNC	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	K7EPE6_HUMAN,K7ELX1_HUMAN,K7EJ90_HUMAN,F5H7Q5_HUMAN,F5H5B1_HUMAN		6	1527	+			UPI000004C0CC	481			NACHT.		SNV	NLRP2,missense_variant,p.Arg481Cys,ENST00000543010,NM_001174081.1;NLRP2,missense_variant,p.Arg481Cys,ENST00000448584,NM_001174083.1,NM_017852.3;NLRP2,missense_variant,p.Arg459Cys,ENST00000537859,NM_001174082.1;NLRP2,missense_variant,p.Arg478Cys,ENST00000263437,;NLRP2,missense_variant,p.Arg457Cys,ENST00000538819,;NLRP2,missense_variant,p.Arg459Cys,ENST00000339757,;NLRP2,missense_variant,p.Arg457Cys,ENST00000391721,;NLRP2,missense_variant,p.Arg458Cys,ENST00000427260,;NLRP2,upstream_gene_variant,,ENST00000540005,;NLRP2,downstream_gene_variant,,ENST00000588619,;NLRP2,downstream_gene_variant,,ENST00000585500,;NLRP2,downstream_gene_variant,,ENST00000397169,;NLRP2,downstream_gene_variant,,ENST00000433772,;NLRP2,non_coding_transcript_exon_variant,,ENST00000540597,;NLRP2,upstream_gene_variant,,ENST00000543277,;NLRP2,downstream_gene_variant,,ENST00000539848,;NLRP2,upstream_gene_variant,,ENST00000381637,;	uc002qij.2	c.1441C>T	1583/3573	2	2			c.1441C>T						19	SNP	c.(1441-1443)CGT>TGT	44	44			ovary(1)|skin(1)	2	Broad	NLR family, pyrin domain containing 2			55494507		0.632	ENSG00000022556	10289	g.chr19:55494507C>T	apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding							83.799834	KEEP	17	20	-1	50	49	17	20	-1	88.131663	50	49	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	T			NLRP2_uc010yfp.1_Missense_Mutation_p.R458C|NLRP2_uc010esn.2_Missense_Mutation_p.R457C|NLRP2_uc010eso.2_Missense_Mutation_p.R478C|NLRP2_uc010esp.2_Missense_Mutation_p.R459C	55	GBM-06-0238-TP	p.R481C	C	GTCCGACCTCCGTCTGTTCCT	NM_017852	NP_060322	55494507	Q9NX02	NALP2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	1527	+	T	T			Missense_Mutation	481			NACHT.			
NLRP2	0	broad.mit.edu	GRCh37	19	55501996	55501996	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-19-2623-01	TCGA-19-2623-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000448584.2:c.2664G>C	p.Leu888=	p.L888=	ENST00000448584	NM_001174083.1	888	ctG/ctC	0			1			C	L	uc002qij.2	protein_coding		CCDS12913.1			2664/3189									ovary(1)|skin(1)	2	c.(2662-2664)CTG>CTC			Superfamily_domains:SSF52047,SMART_domains:SM00368,Pfam_domain:PF13516,Gene3D:3.80.10.10,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF14	NLR family, pyrin domain containing 2				ENSP00000409370		13-Oct	1.65E-05					3.00E-05			rs747841851,COSM3404626	13-Oct	.		ENST00000448584	Transcript			apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	ENSG00000022556	g.chr19:55501996G>C	22948			LOW								--	--	1																																		NLRP2_uc010yfp.1_Silent_p.L865L|NLRP2_uc010esn.2_Silent_p.L864L|NLRP2_uc010eso.2_Silent_p.L885L|NLRP2_uc010esp.2_Silent_p.L866L	0,1				p.L888L	NM_017852	NP_060322			0,1	NALP2_HUMAN	NLRP2	HGNC	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	K7EPE6_HUMAN,K7ELX1_HUMAN,K7EJ90_HUMAN,F5H7Q5_HUMAN,F5H5B1_HUMAN		10	2750	+			UPI000004C0CC	888			LRR 3.		SNV	NLRP2,synonymous_variant,p.=,ENST00000543010,NM_001174081.1;NLRP2,synonymous_variant,p.=,ENST00000448584,NM_001174083.1,NM_017852.3;NLRP2,synonymous_variant,p.=,ENST00000537859,NM_001174082.1;NLRP2,synonymous_variant,p.=,ENST00000263437,;NLRP2,synonymous_variant,p.=,ENST00000538819,;NLRP2,synonymous_variant,p.=,ENST00000339757,;NLRP2,synonymous_variant,p.=,ENST00000391721,;NLRP2,synonymous_variant,p.=,ENST00000427260,;NLRP2,downstream_gene_variant,,ENST00000540005,;NLRP2,non_coding_transcript_exon_variant,,ENST00000586512,;NLRP2,3_prime_UTR_variant,,ENST00000543277,;NLRP2,non_coding_transcript_exon_variant,,ENST00000540597,;NLRP2,upstream_gene_variant,,ENST00000542755,;NLRP2,downstream_gene_variant,,ENST00000381637,;	uc002qij.2	c.2664G>C	2806/3573	4	4			c.2664G>C						19	SNP	c.(2662-2664)CTG>CTC	35	35			ovary(1)|skin(1)	2	Broad	NLR family, pyrin domain containing 2			55501996		0.567	ENSG00000022556	10289	g.chr19:55501996G>C	apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding							118.876933	KEEP	25	15	-1	46	34	25	15	-1	121.466594	46	34	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	C			NLRP2_uc010yfp.1_Silent_p.L865L|NLRP2_uc010esn.2_Silent_p.L864L|NLRP2_uc010eso.2_Silent_p.L885L|NLRP2_uc010esp.2_Silent_p.L866L	163	GBM-19-2623-TP	p.L888L	G	TGAAGTTTCTGTGTGAGGGCT	NM_017852	NP_060322	55501996	Q9NX02	NALP2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	10	2750	+	C	C			Silent	888			LRR 3.			
NLRP2	0	broad.mit.edu	GRCh37	19	55495082	55495082	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-2514-01	TCGA-28-2514-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000448584.2:c.2016C>T	p.Asp672=	p.D672=	ENST00000448584	NM_001174083.1	672	gaC/gaT	0	T:0.0002		1			T	D	uc002qij.2	protein_coding		CCDS12913.1			2016/3189									ovary(1)|skin(1)	2	c.(2014-2016)GAC>GAT			Superfamily_domains:SSF52047,Gene3D:3.80.10.10,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF14	NLR family, pyrin domain containing 2			T:0	ENSP00000409370		13-Jun	2.47E-05	0.0001				3.04E-05			rs374613201,COSM1481520	13-Jun	.		ENST00000448584	Transcript			apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	ENSG00000022556	g.chr19:55495082C>T	22948			LOW								--	--	1																																		NLRP2_uc010yfp.1_Silent_p.D649D|NLRP2_uc010esn.2_Silent_p.D648D|NLRP2_uc010eso.2_Silent_p.D669D|NLRP2_uc010esp.2_Silent_p.D650D	0,1				p.D672D	NM_017852	NP_060322			0,1	NALP2_HUMAN	NLRP2	HGNC	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	K7EPE6_HUMAN,K7ELX1_HUMAN,K7EJ90_HUMAN,F5H7Q5_HUMAN,F5H5B1_HUMAN		6	2102	+			UPI000004C0CC	672					SNV	NLRP2,synonymous_variant,p.=,ENST00000543010,NM_001174081.1;NLRP2,synonymous_variant,p.=,ENST00000448584,NM_001174083.1,NM_017852.3;NLRP2,synonymous_variant,p.=,ENST00000537859,NM_001174082.1;NLRP2,synonymous_variant,p.=,ENST00000263437,;NLRP2,synonymous_variant,p.=,ENST00000538819,;NLRP2,synonymous_variant,p.=,ENST00000339757,;NLRP2,synonymous_variant,p.=,ENST00000391721,;NLRP2,synonymous_variant,p.=,ENST00000427260,;NLRP2,synonymous_variant,p.=,ENST00000540005,;NLRP2,downstream_gene_variant,,ENST00000588619,;NLRP2,downstream_gene_variant,,ENST00000585500,;NLRP2,downstream_gene_variant,,ENST00000397169,;NLRP2,downstream_gene_variant,,ENST00000433772,;NLRP2,non_coding_transcript_exon_variant,,ENST00000540597,;NLRP2,upstream_gene_variant,,ENST00000543277,;NLRP2,downstream_gene_variant,,ENST00000539848,;NLRP2,upstream_gene_variant,,ENST00000381637,;	uc002qij.2	c.2016C>T	2158/3573	2	2			c.2016C>T						19	SNP	c.(2014-2016)GAC>GAT	35	35			ovary(1)|skin(1)	2	Broad	NLR family, pyrin domain containing 2			55495082		0.507	ENSG00000022556	10289	g.chr19:55495082C>T	apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding							165.143327	KEEP	44	30	-1	88	82	44	30	-1	172.503458	88	82	0.301435	1	0	0	0	0	0	0	1	0	--	--		0	T			NLRP2_uc010yfp.1_Silent_p.D649D|NLRP2_uc010esn.2_Silent_p.D648D|NLRP2_uc010eso.2_Silent_p.D669D|NLRP2_uc010esp.2_Silent_p.D650D	214	GBM-28-2514-TP	p.D672D	C	CTGAATCAGACGCCGAGGTTG	NM_017852	NP_060322	55495082	Q9NX02	NALP2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	2102	+	T	T			Silent	672						
NLRP3	114548		GRCh37	1	247587842	247587842	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000336119.3:c.1097G>A	p.Arg366Gln	p.R366Q	ENST00000336119	NM_001127462.2	366	cGg/cAg	0																																																																																																																																																																																																																																												
NLRP4	147945	broad.mit.edu	GRCh37	19	56370584	56370584	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01	TCGA-06-2567-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301295.6:c.1825G>A	p.Val609Ile	p.V609I	ENST00000301295	NM_134444.4	609	Gtc/Atc	0			1			A	V/I	uc002qmd.3	protein_coding	YES	CCDS12936.1			1825/2985								p.V609F(1)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15	c.(1825-1827)GTC>ATC			hmmpanther:PTHR24106:SF8,hmmpanther:PTHR24106,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	NLR family, pyrin domain containing 4				ENSP00000301295		10-Mar									COSM2153099,COSM2153100	10-Mar	.		ENST00000301295	Transcript					ATP binding	ENSG00000160505	g.chr19:56370584G>A	22943			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=NALP4_HUMAN&rb=519&re=718&var=V609I	NA	getma.org/?cm=var&var=hg19,19,56370584,G,A&fts=all	V609I	--	--	1																																		NLRP4_uc002qmf.2_Missense_Mutation_p.V534I|NLRP4_uc010etf.2_Missense_Mutation_p.V440I	1,1	1		benign(0.145)	p.V609I	NM_134444	NP_604393		tolerated(0.29)	1,1	NALP4_HUMAN	NLRP4	HGNC	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	K7ES09_HUMAN		3	2247	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	UPI000013E6FD	609					SNV	NLRP4,missense_variant,p.Val609Ile,ENST00000301295,NM_134444.4;NLRP4,missense_variant,p.Val609Ile,ENST00000346986,;NLRP4,missense_variant,p.Val534Ile,ENST00000587891,;NLRP4,missense_variant,p.Val175Ile,ENST00000589437,;NLRP4,downstream_gene_variant,,ENST00000587464,;	uc002qmd.3	c.1825G>A	2247/3670	2	2			c.1825G>A						19	SNP	c.(1825-1827)GTC>ATC	33	33		p.V609F(1)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15	Broad	NLR family, pyrin domain containing 4			56370584		0.408	ENSG00000160505	10291	g.chr19:56370584G>A			ATP binding							121.635373	KEEP	28	25	-1	63	49	28	25	-1	125.696469	63	49	0.324324	1	0	0	0	0	1	0	0	0	--	--		0	A			NLRP4_uc002qmf.2_Missense_Mutation_p.V534I|NLRP4_uc010etf.2_Missense_Mutation_p.V440I	89	GBM-06-2567-TP	p.V609I	G	CGTTCAAAATGTCTTTAAGAA	NM_134444	NP_604393	56370584	Q96MN2	NALP4_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0606)	3	2247	+	A	A		Colorectal(82;0.0002)|Ovarian(87;0.221)	Missense_Mutation	609						
NLRP4	147945	broad.mit.edu	GRCh37	19	56370207	56370207	+	stop_gained	Nonsense_Mutation	SNP	T	T	A			TCGA-06-6388-01	TCGA-06-6388-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301295.6:c.1448T>A	p.Leu483Ter	p.L483*	ENST00000301295	NM_134444.4	483	tTg/tAg	0			1			A	L/*	uc002qmd.3	protein_coding	YES	CCDS12936.1			1448/2985									ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15	c.(1447-1449)TTG>TAG			hmmpanther:PTHR24106:SF8,hmmpanther:PTHR24106	NLR family, pyrin domain containing 4				ENSP00000301295		10-Mar									COSM3404652,COSM3404653	10-Mar	.		ENST00000301295	Transcript					ATP binding	ENSG00000160505	g.chr19:56370207T>A	22943			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,19,56370207,T,A&fts=all	L483*	--	--	1																																		NLRP4_uc002qmf.2_Nonsense_Mutation_p.L408*|NLRP4_uc010etf.2_Nonsense_Mutation_p.L314*	1,1	1			p.L483*	NM_134444	NP_604393			1,1	NALP4_HUMAN	NLRP4	HGNC	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	K7ES09_HUMAN		3	1870	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	UPI000013E6FD	483					SNV	NLRP4,stop_gained,p.Leu483Ter,ENST00000301295,NM_134444.4;NLRP4,stop_gained,p.Leu483Ter,ENST00000346986,;NLRP4,stop_gained,p.Leu408Ter,ENST00000587891,;NLRP4,stop_gained,p.Leu49Ter,ENST00000589437,;NLRP4,downstream_gene_variant,,ENST00000587464,;	uc002qmd.3	c.1448T>A	1870/3670	5	2			c.1448T>A						19	SNP	c.(1447-1449)TTG>TAG	33	33			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15	Broad	NLR family, pyrin domain containing 4			56370207		0.423	ENSG00000160505	10291	g.chr19:56370207T>A			ATP binding							68.14146	KEEP	15	21	-1	73	99	15	21	-1	86.35345	73	99	0.179894	1	0	0	0	0	0	1	0	0	--	--		0	A			NLRP4_uc002qmf.2_Nonsense_Mutation_p.L408*|NLRP4_uc010etf.2_Nonsense_Mutation_p.L314*	104	GBM-06-6388-TP	p.L483*	T	GTACAGGAATTGCTAGTTGCC	NM_134444	NP_604393	56370207	Q96MN2	NALP4_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0606)	3	1870	+	A	A		Colorectal(82;0.0002)|Ovarian(87;0.221)	Nonsense_Mutation	483						
NLRP4	0	broad.mit.edu	GRCh37	19	56388509	56388509	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0692-01	TCGA-12-0692-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301295.6:c.2673G>A	p.Thr891=	p.T891=	ENST00000301295	NM_134444.4	891	acG/acA	0	A:0		1			A	T	uc002qmd.3	protein_coding	YES	CCDS12936.1			2673/2985									ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15	c.(2671-2673)ACG>ACA			hmmpanther:PTHR24106:SF8,hmmpanther:PTHR24106,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	NLR family, pyrin domain containing 4			A:0.0001	ENSP00000301295		10-Aug	0.000148					0.00027			rs201059514,COSM2154318,COSM2154319	10-Aug	.		ENST00000301295	Transcript					ATP binding	ENSG00000160505	g.chr19:56388509G>A	22943			LOW								--	--	1																																		NLRP4_uc002qmf.2_Silent_p.T816T|NLRP4_uc010etf.2_Silent_p.T666T	0,1,1	1			p.T891T	NM_134444	NP_604393			0,1,1	NALP4_HUMAN	NLRP4	HGNC	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	K7ES09_HUMAN		8	3095	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	UPI000013E6FD	891					SNV	NLRP4,synonymous_variant,p.=,ENST00000301295,NM_134444.4;NLRP4,synonymous_variant,p.=,ENST00000346986,;NLRP4,synonymous_variant,p.=,ENST00000587891,;NLRP4,synonymous_variant,p.=,ENST00000589437,;	uc002qmd.3	c.2673G>A	3095/3670	1	1			c.2673G>A						19	SNP	c.(2671-2673)ACG>ACA	56	56			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15	Broad	NLR family, pyrin domain containing 4			56388509		0.478	ENSG00000160505	10291	g.chr19:56388509G>A			ATP binding							190.897182	KEEP	36	26	-1	69	40	36	26	-1	192.560958	69	40	0.388158	1	0	0	0	0	0	0	1	0	--	--		0	A			NLRP4_uc002qmf.2_Silent_p.T816T|NLRP4_uc010etf.2_Silent_p.T666T	122	GBM-12-0692-TP	p.T891T	G	TGACGCATACGGATTGCCGCT	NM_134444	NP_604393	56388509	Q96MN2	NALP4_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0606)	8	3095	+	A	A		Colorectal(82;0.0002)|Ovarian(87;0.221)	Silent	891						
NLRP4	0	broad.mit.edu	GRCh37	19	56379119	56379119	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1980-01	TCGA-32-1980-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301295.6:c.2231C>T	p.Ala744Val	p.A744V	ENST00000301295	NM_134444.4	744	gCt/gTt	0			1			T	A/V	uc002qmd.3	protein_coding	YES	CCDS12936.1			2231/2985									ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15	c.(2230-2232)GCT>GTT			hmmpanther:PTHR24106:SF8,hmmpanther:PTHR24106,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047	NLR family, pyrin domain containing 4				ENSP00000301295		10-Jun									COSM3404654,COSM3404655	10-Jun	.		ENST00000301295	Transcript					ATP binding	ENSG00000160505	g.chr19:56379119C>T	22943			MODERATE		2.135	medium	getma.org/?cm=msa&ty=f&p=NALP4_HUMAN&rb=719&re=805&var=A744V	getma.org/pdb.php?prot=NALP4_HUMAN&from=719&to=805&var=A744V	getma.org/?cm=var&var=hg19,19,56379119,C,T&fts=all	A744V	--	--	1																																		NLRP4_uc002qmf.2_Missense_Mutation_p.A669V|NLRP4_uc010etf.2_Intron	1,1	1		possibly_damaging(0.53)	p.A744V	NM_134444	NP_604393		tolerated(0.07)	1,1	NALP4_HUMAN	NLRP4	HGNC	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	K7ES09_HUMAN		6	2653	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	UPI000013E6FD	744			LRR 3.		SNV	NLRP4,missense_variant,p.Ala744Val,ENST00000301295,NM_134444.4;NLRP4,missense_variant,p.Ala669Val,ENST00000587891,;NLRP4,intron_variant,,ENST00000346986,;NLRP4,intron_variant,,ENST00000589437,;	uc002qmd.3	c.2231C>T	2653/3670	2	2			c.2231C>T						19	SNP	c.(2230-2232)GCT>GTT	34	34			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15	Broad	NLR family, pyrin domain containing 4			56379119		0.483	ENSG00000160505	10291	g.chr19:56379119C>T			ATP binding							5.487387	KEEP	8	6	-1	66	76	8	6	-1	29.064686	66	76	0.087591	1	0	0	0	0	1	0	0	0	--	--		0	T			NLRP4_uc002qmf.2_Missense_Mutation_p.A669V|NLRP4_uc010etf.2_Intron	231	GBM-32-1980-TP	p.A744V	C	GAAGTCCTTGCTGGCCTTCTA	NM_134444	NP_604393	56379119	Q96MN2	NALP4_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0606)	6	2653	+	T	T		Colorectal(82;0.0002)|Ovarian(87;0.221)	Missense_Mutation	744			LRR 3.			
NLRP4	147945		GRCh37	19	56372800	56372800	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-28-2510-01	TCGA-28-2510-01																				ENST00000301295.6:c.1905C>A	p.Thr635=	p.T635=	ENST00000301295	NM_134444.4	635	acC/acA	0																																																																																																																																																																																																																																												
NLRP4	147945		GRCh37	19	56382302	56382302	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000301295.6:c.2464G>A	p.Glu822Lys	p.E822K	ENST00000301295	NM_134444.4	822	Gaa/Aaa	0																																																																																																																																																																																																																																												
NLRP5	126206	broad.mit.edu	GRCh37	19	56538455	56538455	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01	TCGA-02-0003-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000390649.3:c.856G>A	p.Gly286Arg	p.G286R	ENST00000390649	NM_153447.4	286	Gga/Aga	0			1			A	G/R	uc002qmj.2	protein_coding	YES	CCDS12938.1			856/3603									ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7	c.(856-858)GGA>AGA			PROSITE_profiles:PS50837,hmmpanther:PTHR24106:SF12,hmmpanther:PTHR24106,Pfam_domain:PF05729,Superfamily_domains:SSF52540	NACHT, LRR and PYD containing protein 5				ENSP00000375063		15-Jul	8.36E-06	0.000391							rs754281729,COSM1217477	15-Jul	.		ENST00000390649	Transcript				mitochondrion|nucleolus	ATP binding	ENSG00000171487	g.chr19:56538455G>A	21269			MODERATE		3.165	medium	getma.org/?cm=msa&ty=f&p=NALP5_HUMAN&rb=280&re=447&var=G286R	NA	getma.org/?cm=var&var=hg19,19,56538455,G,A&fts=all	G286R	--	--	1																																		NLRP5_uc002qmi.2_Missense_Mutation_p.G267R	0,1	1		probably_damaging(1)	p.G286R	NM_153447	NP_703148		deleterious(0.03)	0,1	NALP5_HUMAN	NLRP5	HGNC	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)			7	856	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	UPI00001AEEBD	286			NACHT.|ATP (Potential).		SNV	NLRP5,missense_variant,p.Gly286Arg,ENST00000390649,NM_153447.4;	uc002qmj.2	c.856G>A	856/3888	2	2			c.856G>A						19	SNP	c.(856-858)GGA>AGA	41	41			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7	Broad	NACHT, LRR and PYD containing protein 5			56538455		0.547	ENSG00000171487	10292	g.chr19:56538455G>A		mitochondrion|nucleolus	ATP binding							30.15493	KEEP	4	6	-1	2	2	4	6	-1	30.732895	2	2	0.714286	1	0	0	0	0	1	0	0	0	--	--		0	A			NLRP5_uc002qmi.2_Missense_Mutation_p.G267R	1	GBM-02-0003-TP	p.G286R	G	GGTTCTGCACGGAAAGTCAGG	NM_153447	NP_703148	56538455	P59047	NALP5_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0326)	7	856	+	A	A		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	Missense_Mutation	286			NACHT.|ATP (Potential).			
NLRP5	126206	broad.mit.edu	GRCh37	19	56539799	56539799	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01	TCGA-06-0185-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000390649.3:c.2200C>T	p.Arg734Trp	p.R734W	ENST00000390649	NM_153447.4	734	Cgg/Tgg	0			1			T	R/W	uc002qmj.2	protein_coding	YES	CCDS12938.1			2200/3603									ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7	c.(2200-2202)CGG>TGG			hmmpanther:PTHR24106:SF12,hmmpanther:PTHR24106,Gene3D:3.80.10.10	NACHT, LRR and PYD containing protein 5				ENSP00000375063		15-Jul	3.31E-05					4.54E-05		6.07E-05	rs771396943,COSM2150536	15-Jul	.		ENST00000390649	Transcript				mitochondrion|nucleolus	ATP binding	ENSG00000171487	g.chr19:56539799C>T	21269			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=NALP5_HUMAN&rb=648&re=847&var=R734W	NA	getma.org/?cm=var&var=hg19,19,56539799,C,T&fts=all	R734W	--	--	1																																		NLRP5_uc002qmi.2_Missense_Mutation_p.R715W	0,1	1		benign(0.025)	p.R734W	NM_153447	NP_703148		deleterious(0.05)	0,1	NALP5_HUMAN	NLRP5	HGNC	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)			7	2200	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	UPI00001AEEBD	734			LRR 2.		SNV	NLRP5,missense_variant,p.Arg734Trp,ENST00000390649,NM_153447.4;	uc002qmj.2	c.2200C>T	2200/3888	2	2			c.2200C>T						19	SNP	c.(2200-2202)CGG>TGG	45	45			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7	Broad	NACHT, LRR and PYD containing protein 5			56539799		0.502	ENSG00000171487	10292	g.chr19:56539799C>T		mitochondrion|nucleolus	ATP binding							305.869991	KEEP	69	70	-1	199	191	69	70	-1	330.866028	199	191	0.262729	1	0	0	0	0	1	0	0	0	--	--		0	T			NLRP5_uc002qmi.2_Missense_Mutation_p.R715W	40	GBM-06-0185-TP	p.R734W	C	TCCGTATTTGCGGAAAATTCG	NM_153447	NP_703148	56539799	P59047	NALP5_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0326)	7	2200	+	T	T		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	Missense_Mutation	734			LRR 2.			
NLRP5	0	broad.mit.edu	GRCh37	19	56515184	56515184	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-6700-01	TCGA-06-6700-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000390649.3:c.165C>A	p.Asp55Glu	p.D55E	ENST00000390649	NM_153447.4	55	gaC/gaA	0			1			A	D/E	uc002qmj.2	protein_coding	YES	CCDS12938.1			165/3603									ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7	c.(163-165)GAC>GAA			hmmpanther:PTHR24106:SF12,hmmpanther:PTHR24106	NACHT, LRR and PYD containing protein 5				ENSP00000375063		15-Feb									COSM3404665	15-Feb	.		ENST00000390649	Transcript				mitochondrion|nucleolus	ATP binding	ENSG00000171487	g.chr19:56515184C>A	21269			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=NALP5_HUMAN&rb=20&re=58&var=D55E	NA	getma.org/?cm=var&var=hg19,19,56515184,C,A&fts=all	D55E	--	--	1																																		NLRP5_uc002qmi.2_Missense_Mutation_p.D55E	1	1		benign(0.078)	p.D55E	NM_153447	NP_703148		tolerated(1)	1	NALP5_HUMAN	NLRP5	HGNC	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)			2	165	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	UPI00001AEEBD	55					SNV	NLRP5,missense_variant,p.Asp55Glu,ENST00000390649,NM_153447.4;NLRP5,missense_variant,p.Asp28Glu,ENST00000597673,;	uc002qmj.2	c.165C>A	165/3888	2	2			c.165C>A						19	SNP	c.(163-165)GAC>GAA	34	34			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7	Broad	NACHT, LRR and PYD containing protein 5			56515184		0.423	ENSG00000171487	10292	g.chr19:56515184C>A		mitochondrion|nucleolus	ATP binding							52.854519	KEEP	12	14	0.538461538	54	55	12	14	0.538461538	62.688003	54	55	0.198276	1	0	0	0	0	1	0	0	0	--	--		0	A			NLRP5_uc002qmi.2_Missense_Mutation_p.D55E	114	GBM-06-6700-TP	p.D55E	C	TGGAAGGAGACAAATCGCTCA	NM_153447	NP_703148	56515184	P59047	NALP5_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0326)	2	165	+	A	A		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	Missense_Mutation	55						
NLRP5	0	broad.mit.edu	GRCh37	19	56539737	56539737	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-08-0386-01	TCGA-08-0386-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000390649.3:c.2138C>T	p.Pro713Leu	p.P713L	ENST00000390649	NM_153447.4	713	cCg/cTg	0	T:0		1			T	P/L	uc002qmj.2	protein_coding	YES	CCDS12938.1			2138/3603									ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7	c.(2137-2139)CCG>CTG			hmmpanther:PTHR24106:SF12,hmmpanther:PTHR24106,Gene3D:3.80.10.10	NACHT, LRR and PYD containing protein 5			T:0.0001	ENSP00000375063		15-Jul	0.000273		0.00259			1.50E-05	0.00223		rs368341158,COSM3404670	15-Jul	common_variant		ENST00000390649	Transcript				mitochondrion|nucleolus	ATP binding	ENSG00000171487	g.chr19:56539737C>T	21269			MODERATE		0.51	neutral	getma.org/?cm=msa&ty=f&p=NALP5_HUMAN&rb=648&re=847&var=P713L	NA	getma.org/?cm=var&var=hg19,19,56539737,C,T&fts=all	P713L	--	--	1																																		NLRP5_uc002qmi.2_Missense_Mutation_p.P694L	0,1	1		benign(0.016)	p.P713L	NM_153447	NP_703148		tolerated(0.34)	0,1	NALP5_HUMAN	NLRP5	HGNC	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)			7	2138	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	UPI00001AEEBD	713			LRR 1.		SNV	NLRP5,missense_variant,p.Pro713Leu,ENST00000390649,NM_153447.4;	uc002qmj.2	c.2138C>T	2138/3888	2	2			c.2138C>T						19	SNP	c.(2137-2139)CCG>CTG	17	17			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7	Broad	NACHT, LRR and PYD containing protein 5			56539737		0.493	ENSG00000171487	10292	g.chr19:56539737C>T		mitochondrion|nucleolus	ATP binding							-26.680807	KEEP	5	7	-1	131	128	5	7	-1	23.746645	131	128	0.050847	1	0	0	0	0	1	0	0	0	--	--		0	T			NLRP5_uc002qmi.2_Missense_Mutation_p.P694L	116	GBM-08-0386-TP	p.P713L	C	GTGTGGCTTCCGATTAACCAG	NM_153447	NP_703148	56539737	P59047	NALP5_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0326)	7	2138	+	T	T		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	Missense_Mutation	713			LRR 1.			
NLRP5	0	broad.mit.edu	GRCh37	19	56549462	56549462	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-1390-01	TCGA-19-1390-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000390649.3:c.2687T>C	p.Leu896Pro	p.L896P	ENST00000390649	NM_153447.4	896	cTg/cCg	0			1			C	L/P	uc002qmj.2	protein_coding	YES	CCDS12938.1			2687/3603									ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7	c.(2686-2688)CTG>CCG			Low_complexity_(Seg):seg,hmmpanther:PTHR24106:SF12,hmmpanther:PTHR24106,Gene3D:3.80.10.10,Pfam_domain:PF13516,SMART_domains:SM00368,Superfamily_domains:SSF52047	NACHT, LRR and PYD containing protein 5				ENSP00000375063		15-Oct									COSM3404671	15-Oct	.		ENST00000390649	Transcript				mitochondrion|nucleolus	ATP binding	ENSG00000171487	g.chr19:56549462T>C	21269			MODERATE		4.035	high	getma.org/?cm=msa&ty=f&p=NALP5_HUMAN&rb=873&re=937&var=L896P	getma.org/pdb.php?prot=NALP5_HUMAN&from=893&to=917&var=L896P	getma.org/?cm=var&var=hg19,19,56549462,T,C&fts=all	L896P	--	--	1																																		NLRP5_uc002qmi.2_Missense_Mutation_p.L877P	1	1		probably_damaging(1)	p.L896P	NM_153447	NP_703148		deleterious(0)	1	NALP5_HUMAN	NLRP5	HGNC	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)			10	2687	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	UPI00001AEEBD	896			LRR 7.		SNV	NLRP5,missense_variant,p.Leu896Pro,ENST00000390649,NM_153447.4;	uc002qmj.2	c.2687T>C	2687/3888	4	4			c.2687T>C						19	SNP	c.(2686-2688)CTG>CCG	45	45			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7	Broad	NACHT, LRR and PYD containing protein 5			56549462		0.547	ENSG00000171487	10292	g.chr19:56549462T>C		mitochondrion|nucleolus	ATP binding							-18.869023	KEEP	1	3	-1	61	46	1	3	-1	6.531407	61	46	0.028846	1	0	0	0	0	1	0	0	0	--	--		0	C			NLRP5_uc002qmi.2_Missense_Mutation_p.L877P	159	GBM-19-1390-TP	p.L896P	T	TCCCCCAGCCTGAAATCTCTG	NM_153447	NP_703148	56549462	P59047	NALP5_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0326)	10	2687	+	C	C		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	Missense_Mutation	896			LRR 7.			
NLRP5	0	broad.mit.edu	GRCh37	19	56515208	56515208	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-2518-01	TCGA-27-2518-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000390649.3:c.189C>T	p.Tyr63=	p.Y63=	ENST00000390649	NM_153447.4	63	taC/taT	0			1			T	Y	uc002qmj.2	protein_coding	YES	CCDS12938.1			189/3603									ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7	c.(187-189)TAC>TAT			hmmpanther:PTHR24106:SF12,hmmpanther:PTHR24106,Pfam_domain:PF02758,Gene3D:1.10.533.10,Superfamily_domains:SSF47986	NACHT, LRR and PYD containing protein 5				ENSP00000375063		15-Feb	1.66E-05		8.64E-05			1.50E-05			rs543185262,COSM3404666	15-Feb	.		ENST00000390649	Transcript				mitochondrion|nucleolus	ATP binding	ENSG00000171487	g.chr19:56515208C>T	21269			LOW								--	--	1																																		NLRP5_uc002qmi.2_Silent_p.Y63Y	0,1	1			p.Y63Y	NM_153447	NP_703148			0,1	NALP5_HUMAN	NLRP5	HGNC	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)			2	189	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	UPI00001AEEBD	63			DAPIN.		SNV	NLRP5,synonymous_variant,p.=,ENST00000390649,NM_153447.4;NLRP5,synonymous_variant,p.=,ENST00000597673,;	uc002qmj.2	c.189C>T	189/3888	2	2			c.189C>T						19	SNP	c.(187-189)TAC>TAT	43	43			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7	Broad	NACHT, LRR and PYD containing protein 5			56515208		0.423	ENSG00000171487	10292	g.chr19:56515208C>T		mitochondrion|nucleolus	ATP binding							121.873684	KEEP	24	39	-1	104	113	24	39	-1	139.836348	104	113	0.215768	1	0	0	0	0	0	0	1	0	--	--		0	T			NLRP5_uc002qmi.2_Silent_p.Y63Y	198	GBM-27-2518-TP	p.Y63Y	C	TTTCCAGCTACGGGCTGCAAT	NM_153447	NP_703148	56515208	P59047	NALP5_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0326)	2	189	+	T	T		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	Silent	63			DAPIN.			
NLRP5	0	broad.mit.edu	GRCh37	19	56538863	56538863	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4927-01	TCGA-76-4927-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000390649.3:c.1264G>A	p.Val422Met	p.V422M	ENST00000390649	NM_153447.4	422	Gtg/Atg	0			1			A	V/M	uc002qmj.2	protein_coding	YES	CCDS12938.1			1264/3603									ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7	c.(1264-1266)GTG>ATG			hmmpanther:PTHR24106:SF12,hmmpanther:PTHR24106,Pfam_domain:PF05729,Superfamily_domains:SSF52540	NACHT, LRR and PYD containing protein 5				ENSP00000375063		15-Jul	2.48E-05					3.03E-05		6.17E-05	rs771977909,COSM3404667	15-Jul	.		ENST00000390649	Transcript				mitochondrion|nucleolus	ATP binding	ENSG00000171487	g.chr19:56538863G>A	21269			MODERATE		0.625	neutral	getma.org/?cm=msa&ty=f&p=NALP5_HUMAN&rb=280&re=447&var=V422M	NA	getma.org/?cm=var&var=hg19,19,56538863,G,A&fts=all	V422M	--	--	1																																		NLRP5_uc002qmi.2_Missense_Mutation_p.V403M	0,1	1		possibly_damaging(0.462)	p.V422M	NM_153447	NP_703148		tolerated(0.07)	0,1	NALP5_HUMAN	NLRP5	HGNC	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)			7	1264	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	UPI00001AEEBD	422			NACHT.		SNV	NLRP5,missense_variant,p.Val422Met,ENST00000390649,NM_153447.4;	uc002qmj.2	c.1264G>A	1264/3888	2	2			c.1264G>A						19	SNP	c.(1264-1266)GTG>ATG	26	26			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7	Broad	NACHT, LRR and PYD containing protein 5			56538863		0.547	ENSG00000171487	10292	g.chr19:56538863G>A		mitochondrion|nucleolus	ATP binding							39.60755	KEEP	9	7	-1	14	22	9	7	-1	41.393316	14	22	0.3	1	0	0	0	0	1	0	0	0	--	--		0	A			NLRP5_uc002qmi.2_Missense_Mutation_p.V403M	267	GBM-76-4927-TP	p.V422M	G	GTCAGAGGTCGTGTCTCCCCG	NM_153447	NP_703148	56538863	P59047	NALP5_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0326)	7	1264	+	A	A		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	Missense_Mutation	422			NACHT.			
NLRP5	0	broad.mit.edu	GRCh37	19	56539657	56539657	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4928-01	TCGA-76-4928-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000390649.3:c.2058C>T	p.Asp686=	p.D686=	ENST00000390649	NM_153447.4	686	gaC/gaT	0	T:0.0003		1			T	D	uc002qmj.2	protein_coding	YES	CCDS12938.1			2058/3603									ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7	c.(2056-2058)GAC>GAT			hmmpanther:PTHR24106:SF12,hmmpanther:PTHR24106	NACHT, LRR and PYD containing protein 5			T:0.0001	ENSP00000375063		15-Jul	0.000199					0.00036			rs374537249,COSM2970139	15-Jul	.		ENST00000390649	Transcript				mitochondrion|nucleolus	ATP binding	ENSG00000171487	g.chr19:56539657C>T	21269			LOW								--	--	1																																		NLRP5_uc002qmi.2_Silent_p.D667D	0,1	1			p.D686D	NM_153447	NP_703148			0,1	NALP5_HUMAN	NLRP5	HGNC	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)			7	2058	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	UPI00001AEEBD	686					SNV	NLRP5,synonymous_variant,p.=,ENST00000390649,NM_153447.4;	uc002qmj.2	c.2058C>T	2058/3888	2	2			c.2058C>T						19	SNP	c.(2056-2058)GAC>GAT	23	23			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7	Broad	NACHT, LRR and PYD containing protein 5			56539657		0.542	ENSG00000171487	10292	g.chr19:56539657C>T		mitochondrion|nucleolus	ATP binding							78.763352	KEEP	26	24	-1	102	121	26	24	-1	102.391446	102	121	0.181452	1	0	0	0	0	0	0	1	0	--	--		0	T			NLRP5_uc002qmi.2_Silent_p.D667D	268	GBM-76-4928-TP	p.D686D	C	ACACCCTGGACGCCTTCCACT	NM_153447	NP_703148	56539657	P59047	NALP5_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0326)	7	2058	+	T	T		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	Silent	686						
NLRP5	0	broad.mit.edu	GRCh37	19	56552352	56552352	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01	TCGA-76-6192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000390649.3:c.2851C>T	p.Arg951Trp	p.R951W	ENST00000390649	NM_153447.4	951	Cgg/Tgg	0			1			T	R/W	uc002qmj.2	protein_coding	YES	CCDS12938.1			2851/3603									ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7	c.(2851-2853)CGG>TGG			hmmpanther:PTHR24106:SF12,hmmpanther:PTHR24106,Gene3D:3.80.10.10,Pfam_domain:PF13516,SMART_domains:SM00368,Superfamily_domains:SSF52047	NACHT, LRR and PYD containing protein 5				ENSP00000375063		15-Nov	5.79E-05					8.99E-05		6.06E-05	rs778188316,COSM3404672	15-Nov	.		ENST00000390649	Transcript				mitochondrion|nucleolus	ATP binding	ENSG00000171487	g.chr19:56552352C>T	21269			MODERATE		1.62	low	getma.org/?cm=msa&ty=f&p=NALP5_HUMAN&rb=946&re=1006&var=R951W	getma.org/pdb.php?prot=NALP5_HUMAN&from=946&to=1006&var=R951W	getma.org/?cm=var&var=hg19,19,56552352,C,T&fts=all	R951W	--	--	1																																		NLRP5_uc002qmi.2_Missense_Mutation_p.R932W	0,1	1		possibly_damaging(0.613)	p.R951W	NM_153447	NP_703148		tolerated(0.06)	0,1	NALP5_HUMAN	NLRP5	HGNC	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)			11	2851	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	UPI00001AEEBD	951			LRR 8.		SNV	NLRP5,missense_variant,p.Arg951Trp,ENST00000390649,NM_153447.4;	uc002qmj.2	c.2851C>T	2851/3888	2	2			c.2851C>T						19	SNP	c.(2851-2853)CGG>TGG	28	28			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7	Broad	NACHT, LRR and PYD containing protein 5			56552352		0.562	ENSG00000171487	10292	g.chr19:56552352C>T		mitochondrion|nucleolus	ATP binding							86.542713	KEEP	20	16	-1	30	39	20	16	-1	89.336624	30	39	0.315217	1	0	0	0	0	1	0	0	0	--	--		0	T			NLRP5_uc002qmi.2_Missense_Mutation_p.R932W	275	GBM-76-6192-TP	p.R951W	C	CGTCAGCAACCGGAGCTTGAC	NM_153447	NP_703148	56552352	P59047	NALP5_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0326)	11	2851	+	T	T		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	Missense_Mutation	951			LRR 8.			
NLRP6	171389	broad.mit.edu	GRCh37	11	285212	285212	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-1804-01	TCGA-06-1804-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312165.5:c.2587G>T	p.Ala863Ser	p.A863S	ENST00000312165	NM_001276700.1	863	Gct/Tct	0			1			T	A/S	uc010qvs.1	protein_coding	YES	CCDS7693.1			2587/2679									upper_aerodigestive_tract(1)|skin(1)	2	c.(2587-2589)GCT>TCT			hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF3	NLR family, pyrin domain containing 6				ENSP00000309767		8-Aug									COSM2152451	8-Aug	.		ENST00000312165	Transcript				cytoplasm	ATP binding	ENSG00000174885	g.chr11:285212G>T	22944			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=NALP6_HUMAN&rb=766&re=892&var=A863S	getma.org/pdb.php?prot=NALP6_HUMAN&from=766&to=892&var=A863S	getma.org/?cm=var&var=hg19,11,285212,G,T&fts=all	A863S	--	--	1																																		NLRP6_uc010qvt.1_Missense_Mutation_p.A862S	1	1		benign(0.017)	p.A863S	NM_138329	NP_612202		tolerated(0.22)	1	NALP6_HUMAN	NLRP6	HGNC	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)			8	2587	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	UPI00001AEFE1	863			LRR 5.		SNV	NLRP6,missense_variant,p.Ala862Ser,ENST00000534750,;NLRP6,missense_variant,p.Ala863Ser,ENST00000312165,NM_001276700.1,NM_138329.2;ATHL1,upstream_gene_variant,,ENST00000409548,NM_025092.4;ATHL1,upstream_gene_variant,,ENST00000409479,;ATHL1,upstream_gene_variant,,ENST00000409655,;RP11-326C3.2,upstream_gene_variant,,ENST00000534742,;RP11-326C3.2,upstream_gene_variant,,ENST00000525217,;RP11-326C3.2,upstream_gene_variant,,ENST00000533924,;ATHL1,upstream_gene_variant,,ENST00000474221,;ATHL1,upstream_gene_variant,,ENST00000529087,;ATHL1,upstream_gene_variant,,ENST00000482937,;	uc010qvs.1	c.2587G>T	2587/2679	2	2			c.2587G>T						11	SNP	c.(2587-2589)GCT>TCT	41	41			upper_aerodigestive_tract(1)|skin(1)	2	Broad	NLR family, pyrin domain containing 6			285212		0.617	ENSG00000174885	10293	g.chr11:285212G>T		cytoplasm	ATP binding			236			236	29.946722	KEEP	6	4	0.6	4	5	6	4	0.6	30.061839	4	5	0.588235	1	0	0	0	0	1	0	0	0	--	--		0	T			NLRP6_uc010qvt.1_Missense_Mutation_p.A862S	79	GBM-06-1804-TP	p.A863S	G	GGAGCTTCAGGCTGTGAAGAG	NM_138329	NP_612202	285212	P59044	NALP6_HUMAN	0		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	8	2587	+	T	T		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	Missense_Mutation	863			LRR 5.			
NLRP7	199713	broad.mit.edu	GRCh37	19	55450816	55450816	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5415-01	TCGA-06-5415-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000588756.1:c.1371C>T	p.Asp457=	p.D457=	ENST00000588756		457	gaC/gaT	0			1			A	D	uc002qih.3	protein_coding		CCDS33109.1			1371/2943									large_intestine(1)|breast(1)|central_nervous_system(1)	3	c.(1369-1371)GAC>GAT			hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF87	NACHT, leucine rich repeat and PYD containing 7				ENSP00000339491		10-Apr									COSM3404616,COSM3404615,COSM3404617	10-Apr	.		ENST00000340844	Transcript	1				ATP binding	ENSG00000167634	g.chr19:55450816G>A	22947			LOW								--	--	1																																		NLRP7_uc002qig.3_Silent_p.D457D|NLRP7_uc002qii.3_Silent_p.D457D|NLRP7_uc010esk.2_Silent_p.D457D|NLRP7_uc010esl.2_Silent_p.D485D	1,1,1				p.D457D	NM_206828	NP_996611			1,1,1	NALP7_HUMAN	NLRP7	HGNC	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	K7ER92_HUMAN,K7EPY3_HUMAN,K7EP54_HUMAN		4	1447	-			UPI0000046432	457			NACHT.		SNV	NLRP7,synonymous_variant,p.=,ENST00000446217,;NLRP7,synonymous_variant,p.=,ENST00000588756,;NLRP7,synonymous_variant,p.=,ENST00000448121,NM_139176.3,NM_001127255.1;NLRP7,synonymous_variant,p.=,ENST00000328092,;NLRP7,synonymous_variant,p.=,ENST00000592784,;NLRP7,synonymous_variant,p.=,ENST00000340844,NM_206828.3;NLRP7,synonymous_variant,p.=,ENST00000590030,;NLRP7,downstream_gene_variant,,ENST00000590659,;NLRP7,downstream_gene_variant,,ENST00000587103,;NLRP7,downstream_gene_variant,,ENST00000587844,;NLRP7,synonymous_variant,p.=,ENST00000586379,;	uc002qih.3	c.1371C>T	1447/3250	2	2			c.1371C>T						19	SNP	c.(1369-1371)GAC>GAT	28	28			large_intestine(1)|breast(1)|central_nervous_system(1)	3	Broad	NACHT, leucine rich repeat and PYD containing 7			55450816		0.617	ENSG00000167634	10294	g.chr19:55450816G>A			ATP binding							21.087467	KEEP	6	14	-1	56	50	6	14	-1	30.619456	56	50	0.16092	1	0	0	0	0	0	0	1	0	--	--		0	A			NLRP7_uc002qig.3_Silent_p.D457D|NLRP7_uc002qii.3_Silent_p.D457D|NLRP7_uc010esk.2_Silent_p.D457D|NLRP7_uc010esl.2_Silent_p.D485D	98	GBM-06-5415-TP	p.D457D	G	TGGAGACTCTGTCCTGGCGGA	NM_206828	NP_996611	55450816	Q8WX94	NALP7_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0325)	4	1447	-	A	A			Silent	457			NACHT.			
NLRP7	0	broad.mit.edu	GRCh37	19	55451643	55451643	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340844.2:c.544G>A	p.Val182Met	p.V182M	ENST00000340844	NM_206828.3	182	Gtg/Atg	0			1			T	V/M	uc002qih.3	protein_coding		CCDS33109.1			544/2943									large_intestine(1)|breast(1)|central_nervous_system(1)	3	c.(544-546)GTG>ATG			Gene3D:3.40.50.300,Pfam_domain:PF05729,PROSITE_profiles:PS50837,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF87,Superfamily_domains:SSF52540	NACHT, leucine rich repeat and PYD containing 7				ENSP00000339491		10-Apr	2.47E-05					1.50E-05		0.000121	rs778545569,COSM193154,COSM2154768,COSM3404621	10-Apr	.		ENST00000340844	Transcript	1				ATP binding	ENSG00000167634	g.chr19:55451643C>T	22947			MODERATE		0.88	low	getma.org/?cm=msa&ty=f&p=NALP7_HUMAN&rb=172&re=340&var=V182M	NA	getma.org/?cm=var&var=hg19,19,55451643,C,T&fts=all	V182M	--	--	1																																		NLRP7_uc002qig.3_Missense_Mutation_p.V182M|NLRP7_uc002qii.3_Missense_Mutation_p.V182M|NLRP7_uc010esk.2_Missense_Mutation_p.V182M|NLRP7_uc010esl.2_Missense_Mutation_p.V210M	0,1,1,1			possibly_damaging(0.802)	p.V182M	NM_206828	NP_996611		deleterious(0.05)	0,1,1,1	NALP7_HUMAN	NLRP7	HGNC	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	K7ER92_HUMAN,K7EPY3_HUMAN,K7EP54_HUMAN		4	620	-			UPI0000046432	182			NACHT.|ATP (Potential).		SNV	NLRP7,missense_variant,p.Val210Met,ENST00000446217,;NLRP7,missense_variant,p.Val182Met,ENST00000588756,;NLRP7,missense_variant,p.Val182Met,ENST00000448121,NM_139176.3,NM_001127255.1;NLRP7,missense_variant,p.Val182Met,ENST00000328092,;NLRP7,missense_variant,p.Val182Met,ENST00000592784,;NLRP7,missense_variant,p.Val182Met,ENST00000340844,NM_206828.3;NLRP7,missense_variant,p.Val182Met,ENST00000590030,;NLRP7,downstream_gene_variant,,ENST00000590659,;NLRP7,downstream_gene_variant,,ENST00000587103,;NLRP7,downstream_gene_variant,,ENST00000587844,;NLRP7,missense_variant,p.Val182Met,ENST00000586379,;	uc002qih.3	c.544G>A	620/3250	1	1			c.544G>A						19	SNP	c.(544-546)GTG>ATG	8	8			large_intestine(1)|breast(1)|central_nervous_system(1)	3	Broad	NACHT, leucine rich repeat and PYD containing 7			55451643		0.562	ENSG00000167634	10294	g.chr19:55451643C>T			ATP binding							209.136857	KEEP	52	29	-1	94	65	52	29	-1	214.724527	94	65	0.33617	1	0	0	0	0	1	0	0	0	--	--		0	T			NLRP7_uc002qig.3_Missense_Mutation_p.V182M|NLRP7_uc002qii.3_Missense_Mutation_p.V182M|NLRP7_uc010esk.2_Missense_Mutation_p.V182M|NLRP7_uc010esl.2_Missense_Mutation_p.V210M	138	GBM-14-0813-TP	p.V182M	C	GTTTTCCCCACGCCTGCGGGG	NM_206828	NP_996611	55451643	Q8WX94	NALP7_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0325)	4	620	-	T	T			Missense_Mutation	182			NACHT.|ATP (Potential).			
NLRP7	0	broad.mit.edu	GRCh37	19	55449589	55449589	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340844.2:c.1952C>T	p.Pro651Leu	p.P651L	ENST00000340844	NM_206828.3	651	cCg/cTg	0			1			A	P/L	uc002qih.3	protein_coding		CCDS33109.1			1952/2943									large_intestine(1)|breast(1)|central_nervous_system(1)	3	c.(1951-1953)CCG>CTG			Gene3D:3.80.10.10,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF87,Superfamily_domains:SSF52047	NACHT, leucine rich repeat and PYD containing 7				ENSP00000339491		10-May	3.29E-05					6.00E-05			rs763189688,COSM2155232,COSM3404614	10-May	.		ENST00000340844	Transcript	1				ATP binding	ENSG00000167634	g.chr19:55449589G>A	22947			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=NALP7_HUMAN&rb=541&re=740&var=P651L	NA	getma.org/?cm=var&var=hg19,19,55449589,G,A&fts=all	P651L	--	--	1																																		NLRP7_uc002qig.3_Intron|NLRP7_uc002qii.3_Missense_Mutation_p.P651L|NLRP7_uc010esk.2_Missense_Mutation_p.P651L|NLRP7_uc010esl.2_Missense_Mutation_p.P679L	0,1,1			benign(0.002)	p.P651L	NM_206828	NP_996611		tolerated(0.54)	0,1,1	NALP7_HUMAN	NLRP7	HGNC	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	K7ER92_HUMAN,K7EPY3_HUMAN,K7EP54_HUMAN		5	2028	-			UPI0000046432	651		P -> S (in HYDM).			SNV	NLRP7,missense_variant,p.Pro651Leu,ENST00000588756,;NLRP7,missense_variant,p.Pro679Leu,ENST00000446217,;NLRP7,missense_variant,p.Pro651Leu,ENST00000592784,;NLRP7,missense_variant,p.Pro651Leu,ENST00000340844,NM_206828.3;NLRP7,missense_variant,p.Pro651Leu,ENST00000590030,;NLRP7,intron_variant,,ENST00000448121,NM_139176.3,NM_001127255.1;NLRP7,intron_variant,,ENST00000328092,;NLRP7,downstream_gene_variant,,ENST00000590659,;NLRP7,downstream_gene_variant,,ENST00000587103,;NLRP7,downstream_gene_variant,,ENST00000587844,;NLRP7,missense_variant,p.Pro651Leu,ENST00000586379,;	uc002qih.3	c.1952C>T	2028/3250	1	1			c.1952C>T						19	SNP	c.(1951-1953)CCG>CTG	63	63			large_intestine(1)|breast(1)|central_nervous_system(1)	3	Broad	NACHT, leucine rich repeat and PYD containing 7			55449589		0.453	ENSG00000167634	10294	g.chr19:55449589G>A			ATP binding							110.01534	KEEP	25	24	-1	61	85	25	24	-1	120.540769	61	85	0.238095	1	0	0	0	0	1	0	0	0	--	--		0	A			NLRP7_uc002qig.3_Intron|NLRP7_uc002qii.3_Missense_Mutation_p.P651L|NLRP7_uc010esk.2_Missense_Mutation_p.P651L|NLRP7_uc010esl.2_Missense_Mutation_p.P679L	142	GBM-14-1034-TP	p.P651L	G	AGCCCAGTTCGGAATGGTTAG	NM_206828	NP_996611	55449589	Q8WX94	NALP7_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0325)	5	2028	-	A	A			Missense_Mutation	651		P -> S (in HYDM).				
NLRP7	0	broad.mit.edu	GRCh37	19	55451740	55451740	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-3476-01	TCGA-14-3476-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340844.2:c.447C>T	p.Asp149=	p.D149=	ENST00000340844	NM_206828.3	149	gaC/gaT	0			1			A	D	uc002qih.3	protein_coding		CCDS33109.1			447/2943									large_intestine(1)|breast(1)|central_nervous_system(1)	3	c.(445-447)GAC>GAT			hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF87	NACHT, leucine rich repeat and PYD containing 7				ENSP00000339491		10-Apr									COSM3404623,COSM3404622,COSM3404624	10-Apr	.		ENST00000340844	Transcript	1				ATP binding	ENSG00000167634	g.chr19:55451740G>A	22947			LOW								--	--	1																																		NLRP7_uc002qig.3_Silent_p.D149D|NLRP7_uc002qii.3_Silent_p.D149D|NLRP7_uc010esk.2_Silent_p.D149D|NLRP7_uc010esl.2_Silent_p.D177D	1,1,1				p.D149D	NM_206828	NP_996611			1,1,1	NALP7_HUMAN	NLRP7	HGNC	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	K7ER92_HUMAN,K7EPY3_HUMAN,K7EP54_HUMAN		4	523	-			UPI0000046432	149					SNV	NLRP7,synonymous_variant,p.=,ENST00000588756,;NLRP7,synonymous_variant,p.=,ENST00000446217,;NLRP7,synonymous_variant,p.=,ENST00000448121,NM_139176.3,NM_001127255.1;NLRP7,synonymous_variant,p.=,ENST00000328092,;NLRP7,synonymous_variant,p.=,ENST00000592784,;NLRP7,synonymous_variant,p.=,ENST00000340844,NM_206828.3;NLRP7,synonymous_variant,p.=,ENST00000590030,;NLRP7,downstream_gene_variant,,ENST00000590659,;NLRP7,downstream_gene_variant,,ENST00000587103,;NLRP7,downstream_gene_variant,,ENST00000587844,;NLRP7,synonymous_variant,p.=,ENST00000586379,;	uc002qih.3	c.447C>T	523/3250	2	2			c.447C>T						19	SNP	c.(445-447)GAC>GAT	46	46			large_intestine(1)|breast(1)|central_nervous_system(1)	3	Broad	NACHT, leucine rich repeat and PYD containing 7			55451740		0.498	ENSG00000167634	10294	g.chr19:55451740G>A			ATP binding							-163.218775	KEEP	13	13	-1	397	485	13	13	-1	38.834785	397	485	0.025862	1	0	0	0	0	0	0	1	0	--	--		0	A			NLRP7_uc002qig.3_Silent_p.D149D|NLRP7_uc002qii.3_Silent_p.D149D|NLRP7_uc010esk.2_Silent_p.D149D|NLRP7_uc010esl.2_Silent_p.D177D	151	GBM-14-3476-TP	p.D149D	G	TCAGAGTGACGTCGTCATGGA	NM_206828	NP_996611	55451740	Q8WX94	NALP7_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0325)	4	523	-	A	A			Silent	149						
NLRP7	0	broad.mit.edu	GRCh37	19	55451268	55451268	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-1390-01	TCGA-19-1390-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340844.2:c.919A>G	p.Arg307Gly	p.R307G	ENST00000340844	NM_206828.3	307	Agg/Ggg	0			1			C	R/G	uc002qih.3	protein_coding		CCDS33109.1			919/2943									large_intestine(1)|breast(1)|central_nervous_system(1)	3	c.(919-921)AGG>GGG			Pfam_domain:PF05729,PROSITE_profiles:PS50837,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF87,Low_complexity_(Seg):seg,Superfamily_domains:SSF52540	NACHT, leucine rich repeat and PYD containing 7				ENSP00000339491		10-Apr									COSM3748071,COSM3748070,COSM3748072	10-Apr	.		ENST00000340844	Transcript	1				ATP binding	ENSG00000167634	g.chr19:55451268T>C	22947			MODERATE		1.2	low	getma.org/?cm=msa&ty=f&p=NALP7_HUMAN&rb=172&re=340&var=R307G	NA	getma.org/?cm=var&var=hg19,19,55451268,T,C&fts=all	R307G	--	--	1																																		NLRP7_uc002qig.3_Missense_Mutation_p.R307G|NLRP7_uc002qii.3_Missense_Mutation_p.R307G|NLRP7_uc010esk.2_Missense_Mutation_p.R307G|NLRP7_uc010esl.2_Missense_Mutation_p.R335G	1,1,1			benign(0.098)	p.R307G	NM_206828	NP_996611		tolerated(0.07)	1,1,1	NALP7_HUMAN	NLRP7	HGNC	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	K7ER92_HUMAN,K7EPY3_HUMAN,K7EP54_HUMAN		4	995	-			UPI0000046432	307			NACHT.		SNV	NLRP7,missense_variant,p.Arg307Gly,ENST00000588756,;NLRP7,missense_variant,p.Arg335Gly,ENST00000446217,;NLRP7,missense_variant,p.Arg307Gly,ENST00000448121,NM_139176.3,NM_001127255.1;NLRP7,missense_variant,p.Arg307Gly,ENST00000328092,;NLRP7,missense_variant,p.Arg307Gly,ENST00000592784,;NLRP7,missense_variant,p.Arg307Gly,ENST00000340844,NM_206828.3;NLRP7,missense_variant,p.Arg307Gly,ENST00000590030,;NLRP7,downstream_gene_variant,,ENST00000590659,;NLRP7,downstream_gene_variant,,ENST00000587103,;NLRP7,downstream_gene_variant,,ENST00000587844,;NLRP7,missense_variant,p.Arg307Gly,ENST00000586379,;	uc002qih.3	c.919A>G	995/3250	3	3			c.919A>G						19	SNP	c.(919-921)AGG>GGG	11	11			large_intestine(1)|breast(1)|central_nervous_system(1)	3	Broad	NACHT, leucine rich repeat and PYD containing 7			55451268		0.617	ENSG00000167634	10294	g.chr19:55451268T>C			ATP binding							40.289699	KEEP	6	6	-1	9	15	6	6	-1	41.053115	9	15	0.342857	1	0	0	0	0	1	0	0	0	--	--		0	C			NLRP7_uc002qig.3_Missense_Mutation_p.R307G|NLRP7_uc002qii.3_Missense_Mutation_p.R307G|NLRP7_uc010esk.2_Missense_Mutation_p.R307G|NLRP7_uc010esl.2_Missense_Mutation_p.R335G	159	GBM-19-1390-TP	p.R307G	T	TGGAGGTCCCTCAGTGCCCTG	NM_206828	NP_996611	55451268	Q8WX94	NALP7_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0325)	4	995	-	C	C			Missense_Mutation	307			NACHT.			
NLRP7	0	broad.mit.edu	GRCh37	19	55447703	55447703	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340844.2:c.2226C>T	p.Ile742=	p.I742=	ENST00000340844	NM_206828.3	742	atC/atT	0		A:0	1	A:0		A	I	uc002qih.3	protein_coding		CCDS33109.1			2226/2943									large_intestine(1)|breast(1)|central_nervous_system(1)	3	c.(2224-2226)ATC>ATT			Gene3D:3.80.10.10,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF87,Superfamily_domains:SSF52047	NACHT, leucine rich repeat and PYD containing 7		A:0		ENSP00000339491	A:0	10-Jun	0.000115			0.000116		4.50E-05		0.000607	rs571211521,COSM2156067,COSM2156066,COSM3404612	10-Jun	common_variant		ENST00000340844	Transcript	1	A:0.0006			ATP binding	ENSG00000167634	g.chr19:55447703G>A	22947			LOW								--	--	1																																		NLRP7_uc002qig.3_Silent_p.I714I|NLRP7_uc002qii.3_Silent_p.I742I|NLRP7_uc010esk.2_Silent_p.I742I|NLRP7_uc010esl.2_Silent_p.I770I	0,1,1,1				p.I742I	NM_206828	NP_996611	A:0.0031		0,1,1,1	NALP7_HUMAN	NLRP7	HGNC	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	K7ER92_HUMAN,K7EPY3_HUMAN,K7EP54_HUMAN		6	2302	-			UPI0000046432	742					SNV	NLRP7,synonymous_variant,p.=,ENST00000588756,;NLRP7,synonymous_variant,p.=,ENST00000446217,;NLRP7,synonymous_variant,p.=,ENST00000448121,NM_139176.3,NM_001127255.1;NLRP7,synonymous_variant,p.=,ENST00000328092,;NLRP7,synonymous_variant,p.=,ENST00000592784,;NLRP7,synonymous_variant,p.=,ENST00000340844,NM_206828.3;NLRP7,synonymous_variant,p.=,ENST00000590030,;NLRP7,downstream_gene_variant,,ENST00000587844,;NLRP7,synonymous_variant,p.=,ENST00000586379,;	uc002qih.3	c.2226C>T	2302/3250	1	1			c.2226C>T						19	SNP	c.(2224-2226)ATC>ATT	52	52			large_intestine(1)|breast(1)|central_nervous_system(1)	3	Broad	NACHT, leucine rich repeat and PYD containing 7			55447703		0.552	ENSG00000167634	10294	g.chr19:55447703G>A			ATP binding							28.572624	KEEP	7	6	-1	27	26	7	6	-1	32.596975	27	26	0.218182	1	0	0	0	0	0	0	1	0	--	--		0	A			NLRP7_uc002qig.3_Silent_p.I714I|NLRP7_uc002qii.3_Silent_p.I742I|NLRP7_uc010esk.2_Silent_p.I742I|NLRP7_uc010esl.2_Silent_p.I770I	160	GBM-19-1790-TP	p.I742I	G	GTTCCCACTCGATGTGCCCTG	NM_206828	NP_996611	55447703	Q8WX94	NALP7_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0325)	6	2302	-	A	A			Silent	742						
NLRP7	0	broad.mit.edu	GRCh37	19	55451000	55451000	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01	TCGA-32-2632-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340844.2:c.1187G>A	p.Arg396His	p.R396H	ENST00000340844	NM_206828.3	396	cGt/cAt	0			1			T	R/H	uc002qih.3	protein_coding		CCDS33109.1			1187/2943									large_intestine(1)|breast(1)|central_nervous_system(1)	3	c.(1186-1188)CGT>CAT			hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF87	NACHT, leucine rich repeat and PYD containing 7				ENSP00000339491		10-Apr	8.31E-06					1.95E-05			rs375095148,COSM3404619,COSM3404618,COSM3404620	10-Apr	.		ENST00000340844	Transcript	1				ATP binding	ENSG00000167634	g.chr19:55451000C>T	22947			MODERATE		-0.575	neutral	getma.org/?cm=msa&ty=f&p=NALP7_HUMAN&rb=172&re=491&var=R396H	NA	getma.org/?cm=var&var=hg19,19,55451000,C,T&fts=all	R396H	--	--	1																																		NLRP7_uc002qig.3_Missense_Mutation_p.R396H|NLRP7_uc002qii.3_Missense_Mutation_p.R396H|NLRP7_uc010esk.2_Missense_Mutation_p.R396H|NLRP7_uc010esl.2_Missense_Mutation_p.R424H	0,1,1,1			benign(0.019)	p.R396H	NM_206828	NP_996611		tolerated(0.31)	0,1,1,1	NALP7_HUMAN	NLRP7	HGNC	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	K7ER92_HUMAN,K7EPY3_HUMAN,K7EP54_HUMAN		4	1263	-			UPI0000046432	396			NACHT.		SNV	NLRP7,missense_variant,p.Arg396His,ENST00000588756,;NLRP7,missense_variant,p.Arg424His,ENST00000446217,;NLRP7,missense_variant,p.Arg396His,ENST00000448121,NM_139176.3,NM_001127255.1;NLRP7,missense_variant,p.Arg396His,ENST00000328092,;NLRP7,missense_variant,p.Arg396His,ENST00000592784,;NLRP7,missense_variant,p.Arg396His,ENST00000340844,NM_206828.3;NLRP7,missense_variant,p.Arg396His,ENST00000590030,;NLRP7,downstream_gene_variant,,ENST00000590659,;NLRP7,downstream_gene_variant,,ENST00000587103,;NLRP7,downstream_gene_variant,,ENST00000587844,;NLRP7,missense_variant,p.Arg396His,ENST00000586379,;	uc002qih.3	c.1187G>A	1263/3250	2	2			c.1187G>A						19	SNP	c.(1186-1188)CGT>CAT	17	17			large_intestine(1)|breast(1)|central_nervous_system(1)	3	Broad	NACHT, leucine rich repeat and PYD containing 7			55451000		0.706	ENSG00000167634	10294	g.chr19:55451000C>T			ATP binding							27.808355	KEEP	5	11	-1	20	18	5	11	-1	28.180757	20	18	0.37931	1	0	0	0	0	1	0	0	0	--	--		0	T			NLRP7_uc002qig.3_Missense_Mutation_p.R396H|NLRP7_uc002qii.3_Missense_Mutation_p.R396H|NLRP7_uc010esk.2_Missense_Mutation_p.R396H|NLRP7_uc010esl.2_Missense_Mutation_p.R424H	240	GBM-32-2632-TP	p.R396H	C	GCAGAGGAAACGCAGGAACAG	NM_206828	NP_996611	55451000	Q8WX94	NALP7_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0325)	4	1263	-	T	T			Missense_Mutation	396			NACHT.			
NLRP8	126205	broad.mit.edu	GRCh37	19	56459556	56459556	+	synonymous_variant	Silent	SNP	C	C	T	rs146471073		TCGA-06-0145-01	TCGA-06-0145-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000291971.3:c.288C>T	p.Arg96=	p.R96=	ENST00000291971	NM_176811.2	96	cgC/cgT	0	T:0		1			T	R	uc002qmh.2	protein_coding	YES	CCDS12937.1			288/3147									ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13	c.(286-288)CGC>CGT			Superfamily_domains:SSF47986,Pfam_domain:PF02758,Gene3D:1.10.533.10,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF11,PROSITE_profiles:PS50824	NLR family, pyrin domain containing 8			T:0.0001	ENSP00000291971		10-Jan	4.12E-05					3.00E-05		0.000182	rs146471073,COSM2149763	10-Jan	.		ENST00000291971	Transcript				cytoplasm	ATP binding	ENSG00000179709	g.chr19:56459556C>T	22940			LOW								--	--	1																																		NLRP8_uc010etg.2_Silent_p.R96R	0,1	1			p.R96R	NM_176811	NP_789781			0,1	NALP8_HUMAN	NLRP8	HGNC	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)			1	359	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	UPI00001BB3C9	96			DAPIN.		SNV	NLRP8,synonymous_variant,p.=,ENST00000291971,NM_176811.2;NLRP8,synonymous_variant,p.=,ENST00000590542,;	uc002qmh.2	c.288C>T	359/3934	1	1			c.288C>T						19	SNP	c.(286-288)CGC>CGT	5	5			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13	Broad	NLR family, pyrin domain containing 8			56459556		0.507	ENSG00000179709	10295	g.chr19:56459556C>T		cytoplasm	ATP binding							63.767243	KEEP	17	8	-1	39	21	17	8	-1	66.774057	39	21	0.296296	1	0	0	0	0	0	0	1	0	--	--		0	T			NLRP8_uc010etg.2_Silent_p.R96R	23	GBM-06-0145-TP	p.R96R	C	CTGGACGACGCGCTTGGGATG	NM_176811	NP_789781	56459556	Q86W28	NALP8_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0695)	1	359	+	T	T		Colorectal(82;0.000147)|Ovarian(87;0.17)	Silent	96			DAPIN.			
NLRP8	126205	broad.mit.edu	GRCh37	19	56485114	56485114	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0190-01	TCGA-06-0190-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000291971.3:c.2631C>T	p.Asn877=	p.N877=	ENST00000291971	NM_176811.2	877	aaC/aaT	0	A:0	T:0	1	T:0		T	N	uc002qmh.2	protein_coding	YES	CCDS12937.1			2631/3147									ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13	c.(2629-2631)AAC>AAT			Superfamily_domains:SSF52047,SMART_domains:SM00368,Pfam_domain:PF13516,Gene3D:3.80.10.10,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF11	NLR family, pyrin domain containing 8		T:0.001	A:0.0003	ENSP00000291971	T:0	10-Jul	0.000148		0.000346	0.00116	0.000151	3.00E-05	0.0011		rs182237860,COSM3404664	10-Jul	common_variant		ENST00000291971	Transcript		T:0.0002		cytoplasm	ATP binding	ENSG00000179709	g.chr19:56485114C>T	22940			LOW								--	--	1																																		NLRP8_uc010etg.2_Silent_p.N858N	0,1	1			p.N877N	NM_176811	NP_789781	T:0		0,1	NALP8_HUMAN	NLRP8	HGNC	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)			7	2702	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	UPI00001BB3C9	877			LRR 4.		SNV	NLRP8,synonymous_variant,p.=,ENST00000291971,NM_176811.2;NLRP8,synonymous_variant,p.=,ENST00000590542,;	uc002qmh.2	c.2631C>T	2702/3934	2	2			c.2631C>T						19	SNP	c.(2629-2631)AAC>AAT	35	35			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13	Broad	NLR family, pyrin domain containing 8			56485114		0.493	ENSG00000179709	10295	g.chr19:56485114C>T		cytoplasm	ATP binding							186.504668	KEEP	54	34	-1	159	172	54	34	-1	217.419561	159	172	0.210526	1	0	0	0	0	0	0	1	0	--	--		0	T			NLRP8_uc010etg.2_Silent_p.N858N	43	GBM-06-0190-TP	p.N877N	C	TGGCAGAAAACGCCTTGAAAG	NM_176811	NP_789781	56485114	Q86W28	NALP8_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0695)	7	2702	+	T	T		Colorectal(82;0.000147)|Ovarian(87;0.17)	Silent	877			LRR 4.			
NLRP8	126205	broad.mit.edu	GRCh37	19	56466478	56466478	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01	TCGA-06-0645-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000291971.3:c.1054G>A	p.Val352Ile	p.V352I	ENST00000291971	NM_176811.2	352	Gta/Ata	0	A:0	A:0.0008	1	A:0		A	V/I	uc002qmh.2	protein_coding	YES	CCDS12937.1			1054/3147									ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13	c.(1054-1056)GTA>ATA			Pfam_domain:PF05729,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF11	NLR family, pyrin domain containing 8		A:0	A:0.0001	ENSP00000291971	A:0	10-Mar	0.000115	9.63E-05				0.00018		6.06E-05	rs201462125,COSM1396749	10-Mar	.		ENST00000291971	Transcript		A:0.0002		cytoplasm	ATP binding	ENSG00000179709	g.chr19:56466478G>A	22940			MODERATE		-0.465	neutral	getma.org/?cm=msa&ty=f&p=NALP8_HUMAN&rb=204&re=373&var=V352I	NA	getma.org/?cm=var&var=hg19,19,56466478,G,A&fts=all	V352I	--	--	1																																		NLRP8_uc010etg.2_Missense_Mutation_p.V352I	0,1	1		benign(0.032)	p.V352I	NM_176811	NP_789781	A:0	tolerated(0.52)	0,1	NALP8_HUMAN	NLRP8	HGNC	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)			3	1125	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	UPI00001BB3C9	352			NACHT.		SNV	NLRP8,missense_variant,p.Val352Ile,ENST00000291971,NM_176811.2;NLRP8,missense_variant,p.Val352Ile,ENST00000590542,;	uc002qmh.2	c.1054G>A	1125/3934	2	2			c.1054G>A						19	SNP	c.(1054-1056)GTA>ATA	19	19			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13	Broad	NLR family, pyrin domain containing 8			56466478		0.458	ENSG00000179709	10295	g.chr19:56466478G>A		cytoplasm	ATP binding							128.388411	KEEP	32	25	-1	70	85	32	25	-1	138.139259	70	85	0.260638	1	0	0	0	0	1	0	0	0	--	--		0	A			NLRP8_uc010etg.2_Missense_Mutation_p.V352I	59	GBM-06-0645-TP	p.V352I	G	TCCCTCTCTCGTAACCCTTCC	NM_176811	NP_789781	56466478	Q86W28	NALP8_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0695)	3	1125	+	A	A		Colorectal(82;0.000147)|Ovarian(87;0.17)	Missense_Mutation	352			NACHT.			
NLRP8	126205	broad.mit.edu	GRCh37	19	56459235	56459235	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A			TCGA-06-0881-01	TCGA-06-0881-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000291971.3:c.-34G>A		p.*12*	ENST00000291971	NM_176811.2			0	A:0		1			A		uc002qmh.2	protein_coding	YES	CCDS12937.1			-/3147									ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13	c.(-35--31)TCGTG>TCATG				NLR family, pyrin domain containing 8			A:0.0001	ENSP00000291971		10-Jan	2.47E-05			0.000116		3.10E-05			rs376178264	10-Jan	.		ENST00000291971	Transcript				cytoplasm	ATP binding	ENSG00000179709	g.chr19:56459235G>A	22940			MODIFIER								--	--	1																																		NLRP8_uc010etg.2_Translation_Start_Site		1				NM_176811	NP_789781				NALP8_HUMAN	NLRP8	HGNC	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)			1	38	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	UPI00001BB3C9						SNV	NLRP8,5_prime_UTR_variant,,ENST00000291971,NM_176811.2;NLRP8,upstream_gene_variant,,ENST00000590542,;	uc002qmh.2	c.-33G>A	38/3934	2	2			c.-33G>A						19	SNP	c.(-35--31)TCGTG>TCATG	33	33			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13	Broad	NLR family, pyrin domain containing 8			56459235		0.448	ENSG00000179709	10295	g.chr19:56459235G>A		cytoplasm	ATP binding							-14.550006	KEEP	7	6	-1	128	74	7	6	-1	26.197187	128	74	0.059701	1	0	0	0	0	0	0	0	0	--	--		0	A			NLRP8_uc010etg.2_Translation_Start_Site	76	GBM-06-0881-TP		G	TGTCTTTATCGTGGACACTGA	NM_176811	NP_789781	56459235	Q86W28	NALP8_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0695)	1	38	+	A	A		Colorectal(82;0.000147)|Ovarian(87;0.17)	Translation_Start_Site							
NLRP8	126205		GRCh37	19	56477731	56477731	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000291971.3:c.2366G>A	p.Arg789His	p.R789H	ENST00000291971	NM_176811.2	789	cGt/cAt	0																																																																																																																																																																																																																																												
NLRP9	338321	broad.mit.edu	GRCh37	19	56244390	56244390	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0152-01	TCGA-06-0152-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332836.2:c.807C>T	p.Ser269=	p.S269=	ENST00000332836	NM_176820.2	269	tcC/tcT	0			1			A	S	uc002qly.2	protein_coding	YES	CCDS12934.1			807/2976									skin(4)|ovary(2)|breast(1)	7	c.(805-807)TCC>TCT			PROSITE_profiles:PS50837,hmmpanther:PTHR24106:SF72,hmmpanther:PTHR24106,Pfam_domain:PF05729,Superfamily_domains:SSF52540	NLR family, pyrin domain containing 9				ENSP00000331857		9-Feb	8.24E-06							6.06E-05	rs780877323,COSM2149884,COSM3404649	9-Feb	.		ENST00000332836	Transcript				cytoplasm	ATP binding	ENSG00000185792	g.chr19:56244390G>A	22941			LOW								--	--	1																																			0,1,1	1			p.S269S	NM_176820	NP_789790			0,1,1	NALP9_HUMAN	NLRP9	HGNC	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)			2	835	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	UPI00001B6B39	269			NACHT.		SNV	NLRP9,synonymous_variant,p.=,ENST00000332836,NM_176820.2;NLRP9,synonymous_variant,p.=,ENST00000590200,;RN7SKP109,upstream_gene_variant,,ENST00000410592,;	uc002qly.2	c.807C>T	835/3484	1	1			c.807C>T						19	SNP	c.(805-807)TCC>TCT	56	56			skin(4)|ovary(2)|breast(1)	7	Broad	NLR family, pyrin domain containing 9			56244390		0.408	ENSG00000185792	10296	g.chr19:56244390G>A		cytoplasm	ATP binding							116.936205	KEEP	25	17	-1	43	54	25	17	-1	120.049707	43	54	0.324561	1	0	0	0	0	0	0	1	0	--	--		0	A				25	GBM-06-0152-TP	p.S269S	G	TAAGGAGAGAGGATTCTGGAA	NM_176820	NP_789790	56244390	Q7RTR0	NALP9_HUMAN	0		GBM - Glioblastoma multiforme(193;0.123)	2	835	-	A	A		Colorectal(82;0.000133)|Ovarian(87;0.133)	Silent	269			NACHT.			
NLRP9	338321		GRCh37	19	56241342	56241342	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000332836.2:c.1849G>A	p.Val617Ile	p.V617I	ENST00000332836	NM_176820.2	617	Gtc/Atc	0																																																																																																																																																																																																																																												
NLRX1	0	broad.mit.edu	GRCh37	11	119052983	119052983	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6698-01	TCGA-06-6698-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000292199.2:c.2535C>T	p.Asn845=	p.N845=	ENST00000292199	NM_024618.2	845	aaC/aaT	0	T:0		1			T	N	uc001pvu.2	protein_coding		CCDS8416.1			2535/2928									ovary(1)|skin(1)	2	c.(2533-2535)AAC>AAT			Gene3D:3.80.10.10,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF17,SMART_domains:SM00368,Superfamily_domains:SSF52047	NLR family member X1 isoform 1			T:0.0001	ENSP00000292199		10-Sep	4.12E-05					4.58E-05		0.000121	rs370591730,COSM3397462,COSM3397463	10-Sep	.		ENST00000292199	Transcript			innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	ENSG00000160703	g.chr11:119052983C>T	29890			LOW								--	--	1																																		NLRX1_uc001pvv.2_Silent_p.N845N|NLRX1_uc001pvw.2_Silent_p.N845N|NLRX1_uc001pvx.2_Silent_p.N845N	0,1,1				p.N845N	NM_024618	NP_078894			0,1,1	NLRX1_HUMAN	NLRX1	HGNC	Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	C9JQE9_HUMAN,C9JLK8_HUMAN,C9J0R6_HUMAN,B7Z889_HUMAN		9	2750	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	UPI0000161217	845			LRR 6.|Required for the repression of MAVS- induced interferon signaling.		SNV	NLRX1,synonymous_variant,p.=,ENST00000409109,NM_001282144.1;NLRX1,synonymous_variant,p.=,ENST00000292199,NM_024618.2,NM_001282358.1;NLRX1,synonymous_variant,p.=,ENST00000409991,NM_001282143.1;NLRX1,synonymous_variant,p.=,ENST00000409265,NM_170722.1;NLRX1,synonymous_variant,p.=,ENST00000525863,;PDZD3,upstream_gene_variant,,ENST00000531114,;PDZD3,upstream_gene_variant,,ENST00000392817,;PDZD3,upstream_gene_variant,,ENST00000355547,NM_001168468.1;PDZD3,upstream_gene_variant,,ENST00000322712,NM_024791.3;PDZD3,upstream_gene_variant,,ENST00000525131,;NLRX1,downstream_gene_variant,,ENST00000469103,;PDZD3,upstream_gene_variant,,ENST00000534790,;NLRX1,downstream_gene_variant,,ENST00000481860,;PDZD3,upstream_gene_variant,,ENST00000529098,;PDZD3,upstream_gene_variant,,ENST00000527028,;PDZD3,upstream_gene_variant,,ENST00000527951,;PDZD3,upstream_gene_variant,,ENST00000527308,;PDZD3,upstream_gene_variant,,ENST00000528730,;PDZD3,upstream_gene_variant,,ENST00000526279,;PDZD3,upstream_gene_variant,,ENST00000526836,;PDZD3,upstream_gene_variant,,ENST00000533688,;PDZD3,upstream_gene_variant,,ENST00000529573,;	uc001pvu.2	c.2535C>T	2776/3744	2	2			c.2535C>T						11	SNP	c.(2533-2535)AAC>AAT	28	28			ovary(1)|skin(1)	2	Broad	NLR family member X1 isoform 1			119052983		0.677	ENSG00000160703	10297	g.chr11:119052983C>T	innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding							-15.875477	KEEP	2	4	-1	56	55	2	4	-1	6.925854	56	55	0.04	1	0	0	0	0	0	0	1	0	--	--		0	T			NLRX1_uc001pvv.2_Silent_p.N845N|NLRX1_uc001pvw.2_Silent_p.N845N|NLRX1_uc001pvx.2_Silent_p.N845N	112	GBM-06-6698-TP	p.N845N	C	TGGCGTACAACGGTGCTGGTG	NM_024618	NP_078894	119052983	Q86UT6	NLRX1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	9	2750	+	T	T	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	Silent	845			LRR 6.|Required for the repression of MAVS- induced interferon signaling.			
NLRX1	79671		GRCh37	11	119044727	119044727	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000409109.1:c.769G>A	p.Gly257Arg	p.G257R	ENST00000409109	NM_001282144.1	257	Gga/Aga	0																																																																																																																																																																																																																																												
NMBR	0	broad.mit.edu	GRCh37	6	142397171	142397171	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01	TCGA-14-1450-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258042.1:c.787C>T	p.Arg263Cys	p.R263C	ENST00000258042	NM_002511.2	263	Cgc/Tgc	0			1			A	R/C	uc003qiu.2	protein_coding	YES	CCDS5196.1			787/1173									central_nervous_system(3)|breast(1)	4	c.(787-789)CGC>TGC			Prints_domain:PR00358,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF53,PROSITE_profiles:PS50262	neuromedin B receptor				ENSP00000258042		3-Mar	3.30E-05			0.000118		3.17E-05		8.22E-05	rs766550244,COSM1286647	3-Mar	.		ENST00000258042	Transcript			activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	ENSG00000135577	g.chr6:142397171G>A	7843			MODERATE		3.51	high	getma.org/?cm=msa&ty=f&p=NMBR_HUMAN&rb=60&re=324&var=R263C	getma.org/pdb.php?prot=NMBR_HUMAN&from=60&to=324&var=R263C	getma.org/?cm=var&var=hg19,6,142397171,G,A&fts=all	R263C	--	--	1																																			0,1	1		probably_damaging(0.961)	p.R263C	NM_002511	NP_002502		deleterious(0)	0,1	NMBR_HUMAN	NMBR	HGNC	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)			3	928	-	Breast(32;0.155)		UPI000013CFAB	263			Cytoplasmic (Potential).		SNV	NMBR,missense_variant,p.Arg263Cys,ENST00000258042,NM_002511.2;NMBR,upstream_gene_variant,,ENST00000480652,;	uc003qiu.2	c.787C>T	928/1354	2	2			c.787C>T						6	SNP	c.(787-789)CGC>TGC	32	32			central_nervous_system(3)|breast(1)	4	Broad	neuromedin B receptor			142397171		0.388	ENSG00000135577	10299	g.chr6:142397171G>A	activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity							34.406198	KEEP	5	9	-1	7	7	5	9	-1	34.414263	7	7	0.48	1	0	0	0	0	1	0	0	0	--	--		0	A				145	GBM-14-1450-TP	p.R263C	G	TTAGCCAGGCGTTTCCGTGTT	NM_002511	NP_002502	142397171	P28336	NMBR_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	3	928	-	A	A	Breast(32;0.155)		Missense_Mutation	263			Cytoplasmic (Potential).			
NMBR	4829		GRCh37	6	142409496	142409496	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000258042.1:c.300C>T	p.Asp100=	p.D100=	ENST00000258042	NM_002511.2	100	gaC/gaT	0																																																																																																																																																																																																																																												
NME7	0	broad.mit.edu	GRCh37	1	169138771	169138771	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01	TCGA-32-2494-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367811.3:c.1012C>T	p.Pro338Ser	p.P338S	ENST00000367811	NM_013330.3	338	Cct/Tct	0			1			A	P/S	uc001gfu.2	protein_coding	YES	CCDS1277.1			1012/1131									central_nervous_system(1)	1	c.(1012-1014)CCT>TCT			Gene3D:3.30.70.141,Pfam_domain:PF00334,PIRSF_domain:PIRSF036503,hmmpanther:PTHR11349,SMART_domains:SM00562,Superfamily_domains:SSF54919	nucleoside diphosphate kinase 7 isoform a				ENSP00000356785		12-Nov									COSM3399966	12-Nov	.		ENST00000367811	Transcript			CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	ENSG00000143156	g.chr1:169138771G>A	20461			MODERATE		2.975	medium	getma.org/?cm=msa&ty=f&p=NDK7_HUMAN&rb=238&re=375&var=P338S	getma.org/pdb.php?prot=NDK7_HUMAN&from=238&to=375&var=P338S	getma.org/?cm=var&var=hg19,1,169138771,G,A&fts=all	P338S	--	--	1																																		NME7_uc010plq.1_RNA|NME7_uc001gft.2_Missense_Mutation_p.P302S	1	1		probably_damaging(0.937)	p.P338S	NM_013330	NP_037462		deleterious(0.02)	1	NDK7_HUMAN	NME7	HGNC	Q9Y5B8	NDK7_HUMAN					11	1250	-	all_hematologic(923;0.208)		UPI000012FE8C	338					SNV	NME7,missense_variant,p.Pro338Ser,ENST00000367811,NM_013330.3;NME7,missense_variant,p.Pro302Ser,ENST00000472647,NM_197972.1;NME7,non_coding_transcript_exon_variant,,ENST00000483228,;NME7,non_coding_transcript_exon_variant,,ENST00000493481,;NME7,intron_variant,,ENST00000530739,;NME7,3_prime_UTR_variant,,ENST00000525440,;	uc001gfu.2	c.1012C>T	1269/1642	1	1			c.1012C>T						1	SNP	c.(1012-1014)CCT>TCT	49	49			central_nervous_system(1)	1	Broad	nucleoside diphosphate kinase 7 isoform a			169138771		0.368	ENSG00000143156	10308	g.chr1:169138771G>A	CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity							-79.278509	KEEP	0	3	-1	159	199	0	3	-1	6.303364	159	199	0.009709	1	0	0	0	0	1	0	0	0	--	--		0	A			NME7_uc010plq.1_RNA|NME7_uc001gft.2_Missense_Mutation_p.P302S	236	GBM-32-2494-TP	p.P338S	G	AGAGTTCCAGGGCGTAAATGC	NM_013330	NP_037462	169138771	Q9Y5B8	NDK7_HUMAN	0			11	1250	-	A	A	all_hematologic(923;0.208)		Missense_Mutation	338						
NME7	0	broad.mit.edu	GRCh37	1	169256604	169256604	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01	TCGA-32-4213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367811.3:c.691G>A	p.Ala231Thr	p.A231T	ENST00000367811	NM_013330.3	231	Gca/Aca	0			1			T	A/T	uc001gfu.2	protein_coding	YES	CCDS1277.1			691/1131									central_nervous_system(1)	1	c.(691-693)GCA>ACA			PIRSF_domain:PIRSF036503,hmmpanther:PTHR11349	nucleoside diphosphate kinase 7 isoform a				ENSP00000356785		12-Jul	1.65E-05		8.72E-05			1.50E-05			rs749294217,COSM463363	12-Jul	.		ENST00000367811	Transcript			CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	ENSG00000143156	g.chr1:169256604C>T	20461			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=NDK7_HUMAN&rb=197&re=267&var=A231T	NA	getma.org/?cm=var&var=hg19,1,169256604,C,T&fts=all	A231T	--	--	1																																		NME7_uc010plq.1_RNA|NME7_uc001gft.2_Missense_Mutation_p.A195T|NME7_uc001gfv.1_Missense_Mutation_p.A231T	0,1	1		benign(0.001)	p.A231T	NM_013330	NP_037462		tolerated(0.4)	0,1	NDK7_HUMAN	NME7	HGNC	Q9Y5B8	NDK7_HUMAN					7	929	-	all_hematologic(923;0.208)		UPI000012FE8C	231					SNV	NME7,missense_variant,p.Ala231Thr,ENST00000367811,NM_013330.3;NME7,missense_variant,p.Ala195Thr,ENST00000472647,NM_197972.1;NME7,non_coding_transcript_exon_variant,,ENST00000469474,;NME7,non_coding_transcript_exon_variant,,ENST00000480478,;NME7,intron_variant,,ENST00000483228,;NME7,missense_variant,p.Ala231Thr,ENST00000525440,;NME7,missense_variant,p.Ala231Thr,ENST00000528517,;NME7,non_coding_transcript_exon_variant,,ENST00000524967,;	uc001gfu.2	c.691G>A	948/1642	2	2			c.691G>A						1	SNP	c.(691-693)GCA>ACA	17	17			central_nervous_system(1)	1	Broad	nucleoside diphosphate kinase 7 isoform a			169256604		0.358	ENSG00000143156	10308	g.chr1:169256604C>T	CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity							-131.164806	KEEP	6	4	-1	297	316	6	4	-1	9.492041	297	316	0.013436	1	0	0	0	0	1	0	0	0	--	--		0	T			NME7_uc010plq.1_RNA|NME7_uc001gft.2_Missense_Mutation_p.A195T|NME7_uc001gfv.1_Missense_Mutation_p.A231T	247	GBM-32-4213-TP	p.A231T	C	GCAGTGTTTGCCGGCCCACAA	NM_013330	NP_037462	169256604	Q9Y5B8	NDK7_HUMAN	0			7	929	-	T	T	all_hematologic(923;0.208)		Missense_Mutation	231						
NME8	51314	broad.mit.edu	GRCh37	7	37923916	37923916	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01	TCGA-02-2486-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000199447.4:c.1006C>T	p.Arg336Cys	p.R336C	ENST00000199447	NM_016616.4	336	Cgt/Tgt	0			1			T	R/C	uc003tfn.2	protein_coding	YES	CCDS5452.1			1006/1767									ovary(1)|breast(1)|central_nervous_system(1)	3	c.(1006-1008)CGT>TGT			Gene3D:3.30.70.141,Pfam_domain:PF00334,hmmpanther:PTHR11349,hmmpanther:PTHR11349:SF45,SMART_domains:SM00562,Superfamily_domains:SSF54919	thioredoxin domain containing 3				ENSP00000199447		13/18	8.24E-05	9.81E-05		0.000819				0.000122	rs751830410,COSM1089445	13/18	common_variant	Kartagener_syndrome	ENST00000199447	Transcript	1		cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	ENSG00000086288	g.chr7:37923916C>T	16473			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=TXND3_HUMAN&rb=316&re=452&var=R336C	getma.org/pdb.php?prot=TXND3_HUMAN&from=316&to=452&var=R336C	getma.org/?cm=var&var=hg19,7,37923916,C,T&fts=all	R336C	--	--	1																																			0,1	1		possibly_damaging(0.773)	p.R336C	NM_016616	NP_057700		deleterious(0.02)	0,1	TXND3_HUMAN	NME8	HGNC	Q8N427	TXND3_HUMAN					13	1378	+			UPI00000700CB	336			NDK 2.		SNV	NME8,missense_variant,p.Arg336Cys,ENST00000199447,NM_016616.4;NME8,missense_variant,p.Arg336Cys,ENST00000440017,;EPDR1,intron_variant,,ENST00000476620,;NME8,synonymous_variant,p.=,ENST00000426106,;	uc003tfn.2	c.1006C>T	1378/2312	2	2			c.1006C>T						7	SNP	c.(1006-1008)CGT>TGT	46	46			ovary(1)|breast(1)|central_nervous_system(1)	3	Broad	thioredoxin domain containing 3			37923916	Kartagener_syndrome	0.303	ENSG00000086288	16548	g.chr7:37923916C>T	cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	Ovarian(108;903 1537 27096 29907 47400)			Ovarian(108;903 1537 27096 29907 47400)			67.989617	KEEP	16	12	-1	36	46	16	12	-1	73.424226	36	46	0.259615	1	0	0	0	0	1	0	0	0	--	--		0	T				8	GBM-02-2486-TP	p.R336C	C	TGATGTTTTGCGTATTATTAA	NM_016616	NP_057700	37923916	Q8N427	TXND3_HUMAN	0			13	1378	+	T	T			Missense_Mutation	336			NDK 2.			
NME8	51314	broad.mit.edu	GRCh37	7	37901681	37901682	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C			TCGA-06-0644-01	TCGA-06-0644-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000199447.4:c.322_323insC	p.Lys108ThrfsTer5	p.K108Tfs*5	ENST00000199447	NM_016616.4	108	aaa/aCaa	0			1			C	K/TX	uc003tfn.2	protein_coding	YES	CCDS5452.1			322-323/1767									ovary(1)|breast(1)|central_nervous_system(1)	3	c.(322-324)AAAfs			Gene3D:3.40.30.10,PROSITE_profiles:PS51352,hmmpanther:PTHR11349,hmmpanther:PTHR11349:SF45,Superfamily_domains:SSF52833	thioredoxin domain containing 3				ENSP00000199447		18-Jul										18-Jul	.	Kartagener_syndrome	ENST00000199447	Transcript	1		cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	ENSG00000086288	g.chr7:37901681_37901682insC	16473			HIGH								--	--	1																																				1			p.K108fs	NM_016616	NP_057700				TXND3_HUMAN	NME8	HGNC	Q8N427	TXND3_HUMAN					7	694_695	+			UPI00000700CB	108			Thioredoxin.		insertion	NME8,frameshift_variant,p.Lys108ThrfsTer5,ENST00000199447,NM_016616.4;NME8,frameshift_variant,p.Lys108ThrfsTer5,ENST00000440017,;NME8,frameshift_variant,p.Lys53ThrfsTer5,ENST00000444718,;NME8,frameshift_variant,p.Lys53ThrfsTer5,ENST00000455500,;EPDR1,intron_variant,,ENST00000476620,;NME8,intron_variant,,ENST00000426106,;	uc003tfn.2	c.322_323insC	694-695/2312	5	5			c.322_323insC						7	INS	c.(322-324)AAAfs	13	13			ovary(1)|breast(1)|central_nervous_system(1)	3	Broad	thioredoxin domain containing 3			37901682	Kartagener_syndrome	0.376	ENSG00000086288	16548	g.chr7:37901681_37901682insC	cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	Ovarian(108;903 1537 27096 29907 47400)			Ovarian(108;903 1537 27096 29907 47400)																0.05	1	0	0	1	1	0	0	0	0	--	--		0	C				58	GBM-06-0644-TP	p.K108fs	-	GCTTGTTAATAAAAAAGTTATT	NM_016616	NP_057700	37901681	Q8N427	TXND3_HUMAN	0			7	694_695	+	C	C			Frame_Shift_Ins	108			Thioredoxin.			
NME8	51314	broad.mit.edu	GRCh37	7	37923971	37923971	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs144650767		TCGA-06-0875-01	TCGA-06-0875-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000199447.4:c.1061C>T	p.Ser354Leu	p.S354L	ENST00000199447	NM_016616.4	354	tCg/tTg	0	T:0		1			T	S/L	uc003tfn.2	protein_coding	YES	CCDS5452.1			1061/1767									ovary(1)|breast(1)|central_nervous_system(1)	3	c.(1060-1062)TCG>TTG			Gene3D:3.30.70.141,Pfam_domain:PF00334,hmmpanther:PTHR11349,hmmpanther:PTHR11349:SF45,SMART_domains:SM00562,Superfamily_domains:SSF54919	thioredoxin domain containing 3			T:0.0001	ENSP00000199447		13/18	1.65E-05			0.000116		1.50E-05			rs144650767,COSM3412018	13/18	.	Kartagener_syndrome	ENST00000199447	Transcript	1		cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	ENSG00000086288	g.chr7:37923971C>T	16473			MODERATE		2.815	medium	getma.org/?cm=msa&ty=f&p=TXND3_HUMAN&rb=316&re=452&var=S354L	getma.org/pdb.php?prot=TXND3_HUMAN&from=316&to=452&var=S354L	getma.org/?cm=var&var=hg19,7,37923971,C,T&fts=all	S354L	--	--	1																																			0,1	1		probably_damaging(0.969)	p.S354L	NM_016616	NP_057700		deleterious(0)	0,1	TXND3_HUMAN	NME8	HGNC	Q8N427	TXND3_HUMAN					13	1433	+			UPI00000700CB	354			NDK 2.		SNV	NME8,missense_variant,p.Ser354Leu,ENST00000199447,NM_016616.4;NME8,missense_variant,p.Ser354Leu,ENST00000440017,;EPDR1,intron_variant,,ENST00000476620,;NME8,3_prime_UTR_variant,,ENST00000426106,;	uc003tfn.2	c.1061C>T	1433/2312	1	1			c.1061C>T						7	SNP	c.(1060-1062)TCG>TTG	16	16			ovary(1)|breast(1)|central_nervous_system(1)	3	Broad	thioredoxin domain containing 3			37923971	Kartagener_syndrome	0.294	ENSG00000086288	16548	g.chr7:37923971C>T	cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	Ovarian(108;903 1537 27096 29907 47400)			Ovarian(108;903 1537 27096 29907 47400)			107.449978	KEEP	30	19	-1	114	101	30	19	-1	130.021005	114	101	0.190476	1	0	0	0	0	1	0	0	0	--	--		0	T				71	GBM-06-0875-TP	p.S354L	C	GTAGTATTATCGGAAAAAGAA	NM_016616	NP_057700	37923971	Q8N427	TXND3_HUMAN	0			13	1433	+	T	T			Missense_Mutation	354			NDK 2.			
NME8	0	broad.mit.edu	GRCh37	7	37903981	37903981	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-27-1835-01	TCGA-27-1835-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000199447.4:c.486G>C	p.Pro162=	p.P162=	ENST00000199447	NM_016616.4	162	ccG/ccC	0			1			C	P	uc003tfn.2	protein_coding	YES	CCDS5452.1			486/1767									ovary(1)|breast(1)|central_nervous_system(1)	3	c.(484-486)CCG>CCC			Gene3D:3.30.70.141,Pfam_domain:PF00334,hmmpanther:PTHR11349,hmmpanther:PTHR11349:SF45,Superfamily_domains:SSF54919	thioredoxin domain containing 3				ENSP00000199447		18-Sep									COSM3412017	18-Sep	.	Kartagener_syndrome	ENST00000199447	Transcript	1		cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	ENSG00000086288	g.chr7:37903981G>C	16473			LOW								--	--	1																																			1	1			p.P162P	NM_016616	NP_057700			1	TXND3_HUMAN	NME8	HGNC	Q8N427	TXND3_HUMAN					9	858	+			UPI00000700CB	162			NDK 1.		SNV	NME8,synonymous_variant,p.=,ENST00000199447,NM_016616.4;NME8,synonymous_variant,p.=,ENST00000440017,;NME8,synonymous_variant,p.=,ENST00000444718,;NME8,synonymous_variant,p.=,ENST00000455500,;EPDR1,intron_variant,,ENST00000476620,;NME8,intron_variant,,ENST00000426106,;	uc003tfn.2	c.486G>C	858/2312	4	4			c.486G>C						7	SNP	c.(484-486)CCG>CCC	42	42			ovary(1)|breast(1)|central_nervous_system(1)	3	Broad	thioredoxin domain containing 3			37903981	Kartagener_syndrome	0.284	ENSG00000086288	16548	g.chr7:37903981G>C	cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	Ovarian(108;903 1537 27096 29907 47400)			Ovarian(108;903 1537 27096 29907 47400)			21.152219	KEEP	7	5	-1	24	28	7	5	-1	26.17597	24	28	0.176471	1	0	0	0	0	0	0	1	0	--	--		0	C				194	GBM-27-1835-TP	p.P162P	G	TTATCAAACCGGATGCTGTGA	NM_016616	NP_057700	37903981	Q8N427	TXND3_HUMAN	0			9	858	+	C	C			Silent	162			NDK 1.			
NME8	0	broad.mit.edu	GRCh37	7	37890338	37890338	+	splice_donor_variant	Splice_Site	SNP	G	G	A			TCGA-76-4927-01	TCGA-76-4927-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000199447.4:c.198+1G>A		p.X66_splice	ENST00000199447	NM_016616.4			0			1			A		uc003tfn.2	protein_coding	YES	CCDS5452.1			198/1767									ovary(1)|breast(1)|central_nervous_system(1)	3	c.e5+1				thioredoxin domain containing 3				ENSP00000199447			8.24E-06	9.84E-05							rs768239983,COSM3412016		.	Kartagener_syndrome	ENST00000199447	Transcript	1		cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	ENSG00000086288	g.chr7:37890338G>A	16473			HIGH	17-May							--	--	1																																			0,1	1			p.V66_splice	NM_016616	NP_057700			0,1	TXND3_HUMAN	NME8	HGNC	Q8N427	TXND3_HUMAN					5	570	+			UPI00000700CB						SNV	NME8,splice_donor_variant,,ENST00000199447,NM_016616.4;NME8,splice_donor_variant,,ENST00000440017,;NME8,intron_variant,,ENST00000444718,;EPDR1,intron_variant,,ENST00000476620,;NME8,intron_variant,,ENST00000455500,;NME8,intron_variant,,ENST00000426106,;	uc003tfn.2	c.198_splice	-/2312	5	2			c.198_splice						7	SNP	c.e5+1	25	25			ovary(1)|breast(1)|central_nervous_system(1)	3	Broad	thioredoxin domain containing 3			37890338	Kartagener_syndrome	0.318	ENSG00000086288	16548	g.chr7:37890338G>A	cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	Ovarian(108;903 1537 27096 29907 47400)			Ovarian(108;903 1537 27096 29907 47400)			139.097724	KEEP	30	37	-1	99	120	30	37	-1	157.017998	99	120	0.230483	1	0	0	0	0	0	0	0	1	--	--		0	A				267	GBM-76-4927-TP	p.V66_splice	G	TTTTGCTGTCGTAAGAATTTT	NM_016616	NP_057700	37890338	Q8N427	TXND3_HUMAN	0			5	570	+	A	A			Splice_Site							
NMNAT2	0	broad.mit.edu	GRCh37	1	183261948	183261948	+	synonymous_variant	Silent	SNP	G	G	A	rs138225647		TCGA-26-1439-01	TCGA-26-1439-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000287713.6:c.219C>T	p.Ala73=	p.A73=	ENST00000287713	NM_015039.3	73	gcC/gcT	0	A:0.0005		1			A	A	uc001gqc.1	protein_coding	YES	CCDS1353.1			219/924									skin(1)	1	c.(217-219)GCC>GCT			Gene3D:3.40.50.620,Pfam_domain:PF01467,hmmpanther:PTHR12039,hmmpanther:PTHR12039:SF2,Superfamily_domains:SSF52374	nicotinamide mononucleotide adenylyltransferase			A:0	ENSP00000287713		11-Mar	3.29E-05	0.000203				3.05E-05			rs138225647,COSM3400079,COSM3400080	11-Mar	.		ENST00000287713	Transcript			water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity	ENSG00000157064	g.chr1:183261948G>A	16789			LOW								--	--	1																																		NMNAT2_uc001gqb.1_Silent_p.A68A|NMNAT2_uc001gqd.2_5'Flank	0,1,1	1			p.A73A	NM_015039	NP_055854			0,1,1	NMNA2_HUMAN	NMNAT2	HGNC	Q9BZQ4	NMNA2_HUMAN					3	554	-			UPI00000706AB	73					SNV	NMNAT2,synonymous_variant,p.=,ENST00000287713,NM_015039.3;NMNAT2,synonymous_variant,p.=,ENST00000294868,NM_170706.3;NMNAT2,upstream_gene_variant,,ENST00000473046,;	uc001gqc.1	c.219C>T	554/5663	2	2			c.219C>T						1	SNP	c.(217-219)GCC>GCT	35	35			skin(1)	1	Broad	nicotinamide mononucleotide adenylyltransferase			183261948		0.562	ENSG00000157064	10311	g.chr1:183261948G>A	water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity							-0.664349	KEEP	3	0	-1	27	35	3	0	-1	8.320264	27	35	0.065217	1	0	0	0	0	0	0	1	0	--	--		0	A			NMNAT2_uc001gqb.1_Silent_p.A68A|NMNAT2_uc001gqd.2_5'Flank	179	GBM-26-1439-TP	p.A73A	G	AATTCTGGACGGCCAGCTGAC	NM_015039	NP_055854	183261948	Q9BZQ4	NMNA2_HUMAN	0			3	554	-	A	A			Silent	73						
NMT2	0	broad.mit.edu	GRCh37	10	15183429	15183429	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-4157-01	TCGA-14-4157-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378165.4:c.238C>T	p.Pro80Ser	p.P80S	ENST00000378165	NM_004808.2	80	Cct/Tct	0			1			A	P/S	uc001inz.1	protein_coding	YES	CCDS7109.1			238/1497									ovary(1)	1	c.(238-240)CCT>TCT			PIRSF_domain:PIRSF015892,hmmpanther:PTHR11377,hmmpanther:PTHR11377:SF6	N-myristoyltransferase 2				ENSP00000367407		12-Feb									COSM3397020,COSM3397021	12-Feb	.		ENST00000378165	Transcript			N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity	ENSG00000152465	g.chr10:15183429G>A	7858			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=NMT2_HUMAN&rb=1&re=136&var=P80S	NA	getma.org/?cm=var&var=hg19,10,15183429,G,A&fts=all	P80S	--	--	1																																		NMT2_uc001ioa.1_Silent_p.S52S|NMT2_uc009xjo.1_Missense_Mutation_p.P80S|NMT2_uc010qbz.1_5'UTR	1,1	1		benign(0.003)	p.P80S	NM_004808	NP_004799		tolerated(0.15)	1,1	NMT2_HUMAN	NMT2	HGNC	O60551	NMT2_HUMAN			B4DXS1_HUMAN		2	322	-			UPI0000130278	80					SNV	NMT2,missense_variant,p.Pro80Ser,ENST00000378165,NM_004808.2;NMT2,synonymous_variant,p.=,ENST00000378150,;NMT2,synonymous_variant,p.=,ENST00000535341,;NMT2,5_prime_UTR_variant,,ENST00000540259,;NMT2,upstream_gene_variant,,ENST00000478580,;RPP38,downstream_gene_variant,,ENST00000451677,;	uc001inz.1	c.238C>T	319/2907	2	2			c.238C>T						10	SNP	c.(238-240)CCT>TCT	46	46			ovary(1)	1	Broad	N-myristoyltransferase 2			15183429		0.393	ENSG00000152465	10316	g.chr10:15183429G>A	N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity	Melanoma(117;1345 1645 4130 12688 30625)			Melanoma(117;1345 1645 4130 12688 30625)			-31.93832	KEEP	3	2	-1	79	97	3	2	-1	6.941521	79	97	0.025641	1	0	0	0	0	1	0	0	0	--	--		0	A			NMT2_uc001ioa.1_Silent_p.S52S|NMT2_uc009xjo.1_Missense_Mutation_p.P80S|NMT2_uc010qbz.1_5'UTR	152	GBM-14-4157-TP	p.P80S	G	ACTTTCGAAGGCTGCTGAATT	NM_004808	NP_004799	15183429	O60551	NMT2_HUMAN	0			2	322	-	A	A			Missense_Mutation	80						
NMUR1	10316	broad.mit.edu	GRCh37	2	232393454	232393454	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs143358901	by1000genomes	TCGA-06-5415-01	TCGA-06-5415-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305141.4:c.278C>T	p.Thr93Met	p.T93M	ENST00000305141	NM_006056.4	93	aCg/aTg	0		A:0.0008	1	A:0		A	T/M	uc002vry.3	protein_coding	YES	CCDS2486.1			278/1281									lung(3)|central_nervous_system(1)|pancreas(1)	5	c.(277-279)ACG>ATG			PROSITE_profiles:PS50262,hmmpanther:PTHR24243:SF109,hmmpanther:PTHR24243,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01565	neuromedin U receptor 1		A:0		ENSP00000305877	A:0	3-Feb	8.24E-06	9.63E-05							rs201125357,COSM2153258	3-Feb	.		ENST00000305141	Transcript		A:0.0002	activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity	ENSG00000171596	g.chr2:232393454G>A	4518			MODERATE		4.49	high	getma.org/?cm=msa&ty=f&p=NMUR1_HUMAN&rb=77&re=356&var=T93M	getma.org/pdb.php?prot=NMUR1_HUMAN&from=77&to=356&var=T93M	getma.org/?cm=var&var=hg19,2,232393454,G,A&fts=all	T93M	--	--	1																																			0,1	1		probably_damaging(0.945)	p.T93M	NM_006056	NP_006047	A:0	deleterious(0.02)	0,1	NMUR1_HUMAN	NMUR1	HGNC	Q9HB89	NMUR1_HUMAN		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)			2	388	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)	UPI0000071CAE	93			Cytoplasmic (Potential).		SNV	NMUR1,missense_variant,p.Thr93Met,ENST00000305141,NM_006056.4;	uc002vry.3	c.278C>T	412/3298	2	2			c.278C>T						2	SNP	c.(277-279)ACG>ATG	32	32			lung(3)|central_nervous_system(1)|pancreas(1)	5	Broad	neuromedin U receptor 1			232393454		0.612	ENSG00000171596	10318	g.chr2:232393454G>A	activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity							120.966237	KEEP	21	26	-1	34	45	21	26	-1	122.741361	34	45	0.369748	1	0	0	0	0	1	0	0	0	--	--		0	A				98	GBM-06-5415-TP	p.T93M	G	GTTGGTAGGCGTGCGCATGGC	NM_006056	NP_006047	232393454	Q9HB89	NMUR1_HUMAN	0		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	2	388	-	A	A		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)	Missense_Mutation	93			Cytoplasmic (Potential).			
NMUR2	56923	broad.mit.edu	GRCh37	5	151784353	151784353	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01	TCGA-06-0743-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255262.3:c.322C>T	p.Arg108Cys	p.R108C	ENST00000255262	NM_020167.4	108	Cgc/Tgc	0			1			A	R/C	uc003luv.2	protein_coding	YES	CCDS4321.1			322/1248									ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1)	8	c.(322-324)CGC>TGC			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR01565,PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF14,Superfamily_domains:SSF81321	neuromedin U receptor 2				ENSP00000255262		4-Jan									COSM3410021	4-Jan	.		ENST00000255262	Transcript			activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	ENSG00000132911	g.chr5:151784353G>A	16454			MODERATE		1.285	low	getma.org/?cm=msa&ty=f&p=NMUR2_HUMAN&rb=62&re=327&var=R108C	getma.org/pdb.php?prot=NMUR2_HUMAN&from=62&to=327&var=R108C	getma.org/?cm=var&var=hg19,5,151784353,G,A&fts=all	R108C	--	--	1																																			1	1		benign(0.011)	p.R108C	NM_020167	NP_064552		tolerated(0.15)	1	NMUR2_HUMAN	NMUR2	HGNC	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)				1	488	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	UPI000013CE9D	108			Extracellular (Potential).		SNV	NMUR2,missense_variant,p.Arg108Cys,ENST00000255262,NM_020167.4;NMUR2,intron_variant,,ENST00000518933,;	uc003luv.2	c.322C>T	488/2073	1	1			c.322C>T						5	SNP	c.(322-324)CGC>TGC	56	56			ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1)	8	Broad	neuromedin U receptor 2			151784353		0.587	ENSG00000132911	10319	g.chr5:151784353G>A	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity							140.000793	KEEP	23	31	-1	45	53	23	31	-1	142.473971	45	53	0.359155	1	0	0	0	0	1	0	0	0	--	--		0	A				65	GBM-06-0743-TP	p.R108C	G	GGGTAGTTGCGCCACATCTCA	NM_020167	NP_064552	151784353	Q9GZQ4	NMUR2_HUMAN	0	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		1	488	-	A	A		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Missense_Mutation	108			Extracellular (Potential).			
NMUR2	56923	broad.mit.edu	GRCh37	5	151771915	151771915	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01	TCGA-06-0744-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255262.3:c.1085G>A	p.Arg362Gln	p.R362Q	ENST00000255262	NM_020167.4	362	cGg/cAg	0			1			T	R/Q	uc003luv.2	protein_coding	YES	CCDS4321.1			1085/1248									ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1)	8	c.(1084-1086)CGG>CAG			Prints_domain:PR01567,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF14	neuromedin U receptor 2				ENSP00000255262		4-Apr	2.47E-05					3.00E-05		6.06E-05	rs759161756,COSM206306	4-Apr	.		ENST00000255262	Transcript			activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	ENSG00000132911	g.chr5:151771915C>T	16454			MODERATE		1.265	low	getma.org/?cm=msa&ty=f&p=NMUR2_HUMAN&rb=328&re=415&var=R362Q	NA	getma.org/?cm=var&var=hg19,5,151771915,C,T&fts=all	R362Q	--	--	1																																			0,1	1		benign(0.003)	p.R362Q	NM_020167	NP_064552		tolerated(0.49)	0,1	NMUR2_HUMAN	NMUR2	HGNC	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)				4	1251	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	UPI000013CE9D	362			Cytoplasmic (Potential).		SNV	NMUR2,missense_variant,p.Arg362Gln,ENST00000255262,NM_020167.4;NMUR2,downstream_gene_variant,,ENST00000518933,;	uc003luv.2	c.1085G>A	1251/2073	1	1			c.1085G>A						5	SNP	c.(1084-1086)CGG>CAG	5	5			ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1)	8	Broad	neuromedin U receptor 2			151771915		0.532	ENSG00000132911	10319	g.chr5:151771915C>T	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity							248.089868	KEEP	43	31	-1	21	6	43	31	-1	252.909434	21	6	0.736842	1	0	0	0	0	1	0	0	0	--	--		0	T				66	GBM-06-0744-TP	p.R362Q	C	GAAGATGTTCCGCTGGGCAGG	NM_020167	NP_064552	151771915	Q9GZQ4	NMUR2_HUMAN	0	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		4	1251	-	T	T		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Missense_Mutation	362			Cytoplasmic (Potential).			
NMUR2	0	broad.mit.edu	GRCh37	5	151775094	151775094	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6191-01	TCGA-76-6191-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255262.3:c.863G>A	p.Arg288Gln	p.R288Q	ENST00000255262	NM_020167.4	288	cGa/cAa	0			1			T	R/Q	uc003luv.2	protein_coding	YES	CCDS4321.1			863/1248									ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1)	8	c.(862-864)CGA>CAA			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,Prints_domain:PR01565,PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF14,Superfamily_domains:SSF81321	neuromedin U receptor 2				ENSP00000255262		4-Mar	2.47E-05			0.000231	0.000151				rs766887935	4-Mar	.		ENST00000255262	Transcript			activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	ENSG00000132911	g.chr5:151775094C>T	16454			MODERATE		2.3	medium	getma.org/?cm=msa&ty=f&p=NMUR2_HUMAN&rb=62&re=327&var=R288Q	getma.org/pdb.php?prot=NMUR2_HUMAN&from=62&to=327&var=R288Q	getma.org/?cm=var&var=hg19,5,151775094,C,T&fts=all	R288Q	--	--	1																																				1		probably_damaging(0.997)	p.R288Q	NM_020167	NP_064552		deleterious(0)		NMUR2_HUMAN	NMUR2	HGNC	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)				3	1029	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	UPI000013CE9D	288			Extracellular (Potential).		SNV	NMUR2,missense_variant,p.Arg288Gln,ENST00000255262,NM_020167.4;NMUR2,non_coding_transcript_exon_variant,,ENST00000518933,;	uc003luv.2	c.863G>A	1029/2073	2	2			c.863G>A						5	SNP	c.(862-864)CGA>CAA	29	29			ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1)	8	Broad	neuromedin U receptor 2			151775094		0.483	ENSG00000132911	10319	g.chr5:151775094C>T	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity							51.06825	KEEP	10	7	-1	14	16	10	7	-1	51.65653	14	16	0.377778	1	0	0	0	0	1	0	0	0	--	--		0	T				274	GBM-76-6191-TP	p.R288Q	C	GAAGAAGAGTCGGTCAATGTG	NM_020167	NP_064552	151775094	Q9GZQ4	NMUR2_HUMAN	0	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		3	1029	-	T	T		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Missense_Mutation	288			Extracellular (Potential).			
NNMT	0	broad.mit.edu	GRCh37	11	114182998	114182998	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5220-01	TCGA-28-5220-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299964.3:c.594G>A	p.Ala198=	p.A198=	ENST00000299964	NM_006169.2	198	gcG/gcA	0			1			A	A	uc001por.1	protein_coding		CCDS8368.1			594/795									ovary(1)	1	c.(592-594)GCG>GCA			PROSITE_profiles:PS51681,hmmpanther:PTHR10867,hmmpanther:PTHR10867:SF5,Gene3D:3.40.50.150,Pfam_domain:PF01234,PIRSF_domain:PIRSF000384,Superfamily_domains:SSF53335	nicotinamide N-methyltransferase	Niacin(DB00627)			ENSP00000299964		3-Mar									COSM3397424	3-Mar	.		ENST00000299964	Transcript			xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity	ENSG00000166741	g.chr11:114182998G>A	7861			LOW								--	--	1																																		NNMT_uc001pos.1_Silent_p.A198A	1				p.A198A	NM_006169	NP_006160			1	NNMT_HUMAN	NNMT	HGNC	P40261	NNMT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Q6FH49_HUMAN,F5H0R4_HUMAN		5	858	+		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	UPI0000130285	198					SNV	NNMT,synonymous_variant,p.=,ENST00000535401,;NNMT,synonymous_variant,p.=,ENST00000299964,NM_006169.2;NNMT,synonymous_variant,p.=,ENST00000541754,;NNMT,synonymous_variant,p.=,ENST00000545255,;NNMT,synonymous_variant,p.=,ENST00000542647,;RP11-64D24.2,intron_variant,,ENST00000544925,;NNMT,downstream_gene_variant,,ENST00000541090,;	uc001por.1	c.594G>A	1326/1610	2	2			c.594G>A						11	SNP	c.(592-594)GCG>GCA	22	22			ovary(1)	1	Broad	nicotinamide N-methyltransferase		Niacin(DB00627)	114182998		0.612	ENSG00000166741	10321	g.chr11:114182998G>A	xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity							-38.933355	KEEP	2	3	-1	100	96	2	3	-1	7.121833	100	96	0.026738	1	0	0	0	0	0	0	1	0	--	--		0	A			NNMT_uc001pos.1_Silent_p.A198A	226	GBM-28-5220-TP	p.A198A	G	TCATGGATGCGCTCAAGAGCA	NM_006169	NP_006160	114182998	P40261	NNMT_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	5	858	+	A	A		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	Silent	198						
NNT	23530	broad.mit.edu	GRCh37	5	43653189	43653189	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-02-2483-01	TCGA-02-2483-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264663.5:c.1933C>A	p.Arg645Ser	p.R645S	ENST00000264663	NM_012343.3	645	Cgt/Agt	0			1			A	R/S	uc003joe.2	protein_coding	YES	CCDS3949.1			1933/3261									ovary(2)|central_nervous_system(1)	3	c.(1933-1935)CGT>AGT			hmmpanther:PTHR10160,hmmpanther:PTHR10160:SF22,Pfam_domain:PF02233	nicotinamide nucleotide transhydrogenase	NADH(DB00157)			ENSP00000264663		14/22									COSM3748304	14/22	.		ENST00000264663	Transcript	1		tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	ENSG00000112992	g.chr5:43653189C>A	7863			MODERATE		3.21	medium	getma.org/?cm=msa&ty=f&p=NNTM_HUMAN&rb=618&re=1080&var=R645S	NA	getma.org/?cm=var&var=hg19,5,43653189,C,A&fts=all	R645S	--	--	1																																		NNT_uc003jof.2_Missense_Mutation_p.R645S	1	1		probably_damaging(0.919)	p.R645S	NM_012343	NP_036475		deleterious(0.01)	1	NNTM_HUMAN	NNT	HGNC	Q13423	NNTM_HUMAN			E9PCX7_HUMAN,D6RHU2_HUMAN,D6RCR6_HUMAN,D6RAI5_HUMAN		14	2188	+	Lung NSC(6;2.58e-06)		UPI000013D54F	645					SNV	NNT,missense_variant,p.Arg645Ser,ENST00000264663,NM_012343.3;NNT,missense_variant,p.Arg645Ser,ENST00000344920,NM_182977.2;NNT,missense_variant,p.Arg514Ser,ENST00000512996,;NNT,downstream_gene_variant,,ENST00000503651,;NNT,non_coding_transcript_exon_variant,,ENST00000513390,;	uc003joe.2	c.1933C>A	2154/6483	2	2			c.1933C>A						5	SNP	c.(1933-1935)CGT>AGT	47	47			ovary(2)|central_nervous_system(1)	3	Broad	nicotinamide nucleotide transhydrogenase		NADH(DB00157)	43653189		0.542	ENSG00000112992	10322	g.chr5:43653189C>A	tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding							-16.384518	KEEP	2	1	0.333333333	51	56	2	1	0.333333333	6.639165	51	56	0.03125	1	0	0	0	0	1	0	0	0	--	--		0	A			NNT_uc003jof.2_Missense_Mutation_p.R645S	6	GBM-02-2483-TP	p.R645S	C	GGGAACAGCACGTCTTGGCAA	NM_012343	NP_036475	43653189	Q13423	NNTM_HUMAN	0			14	2188	+	A	A	Lung NSC(6;2.58e-06)		Missense_Mutation	645						
NOB1	0	broad.mit.edu	GRCh37	16	69782153	69782153	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-2494-01	TCGA-32-2494-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268802.5:c.806G>T	p.Arg269Leu	p.R269L	ENST00000268802	NM_014062.2	269	cGc/cTc	0			1			A	R/L	uc002exs.2	protein_coding	YES	CCDS10884.1			806/1239										0	c.(805-807)CGC>CTC			Superfamily_domains:0052201,Pfam_domain:PF08772,PIRSF_domain:PIRSF037125,hmmpanther:PTHR12814	nin one binding protein				ENSP00000268802		9-Jul	8.24E-06							6.07E-05	rs199699618,COSM3748003	9-Jul	.		ENST00000268802	Transcript				nucleus	metal ion binding|protein binding	ENSG00000141101	g.chr16:69782153C>A	29540			MODERATE		2.685	medium	getma.org/?cm=msa&ty=f&p=NOB1_HUMAN&rb=259&re=332&var=R269L	getma.org/pdb.php?prot=NOB1_HUMAN&from=259&to=332&var=R269L	getma.org/?cm=var&var=hg19,16,69782153,C,A&fts=all	R269L	--	--	1																																			0,1	1		probably_damaging(0.992)	p.R269L	NM_014062	NP_054781		deleterious(0)	0,1	NOB1_HUMAN	NOB1	HGNC	Q9ULX3	NOB1_HUMAN					7	822	-			UPI0000034E10	269					SNV	NOB1,missense_variant,p.Arg269Leu,ENST00000268802,NM_014062.2;NOB1,3_prime_UTR_variant,,ENST00000569871,;NOB1,3_prime_UTR_variant,,ENST00000564620,;NOB1,downstream_gene_variant,,ENST00000561677,;NOB1,downstream_gene_variant,,ENST00000562416,;NOB1,downstream_gene_variant,,ENST00000563055,;	uc002exs.2	c.806G>T	836/1734	2	2			c.806G>T						16	SNP	c.(805-807)CGC>CTC	17	17				0	Broad	nin one binding protein			69782153		0.473	ENSG00000141101	10323	g.chr16:69782153C>A		nucleus	metal ion binding|protein binding							0.941671	KEEP	2	2	0.5	24	32	2	2	0.5	8.042973	24	32	0.093023	1	0	0	0	0	1	0	0	0	--	--		0	A				236	GBM-32-2494-TP	p.R269L	C	GCCATGGCAGCGCAAGATGTA	NM_014062	NP_054781	69782153	Q9ULX3	NOB1_HUMAN	0			7	822	-	A	A			Missense_Mutation	269						
NOBOX	0	broad.mit.edu	GRCh37	7	144098530	144098530	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-2502-01	TCGA-28-2502-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000467773.1:c.453C>T	p.Thr151=	p.T151=	ENST00000467773	NM_001080413.3	151	acC/acT	0			1			A	T	uc011kue.1	protein_coding	YES				453/2076									ovary(1)	1	c.(451-453)ACC>ACT			hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF282	NOBOX oogenesis homeobox				ENSP00000419457		10-Apr	4.14E-05					4.78E-05		0.000151	rs780060226,COSM3411755,COSM3411754	10-Apr	.		ENST00000467773	Transcript	1		cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	ENSG00000106410	g.chr7:144098530G>A	22448			LOW								--	--	1																																			0,1,1	1			p.T151T	NM_001080413	NP_001073882			0,1,1	NOBOX_HUMAN	NOBOX	HGNC	O60393	NOBOX_HUMAN					4	453	-	Melanoma(164;0.14)		UPI00019B220B	151					SNV	NOBOX,synonymous_variant,p.=,ENST00000467773,NM_001080413.3;NOBOX,synonymous_variant,p.=,ENST00000483238,;NOBOX,synonymous_variant,p.=,ENST00000223140,;	uc011kue.1	c.453C>T	453/2076	1	1			c.453C>T						7	SNP	c.(451-453)ACC>ACT	61	61			ovary(1)	1	Broad	NOBOX oogenesis homeobox			144098530		0.637	ENSG00000106410	10324	g.chr7:144098530G>A	cell differentiation|oogenesis	nucleus	sequence-specific DNA binding							14.76813	KEEP	7	15	-1	54	49	7	15	-1	20.273312	54	49	0.16	1	0	0	0	0	0	0	1	0	--	--		0	A				210	GBM-28-2502-TP	p.T151T	G	CATCAGCCCCGGTGGCTTCTC	NM_001080413	NP_001073882	144098530	O60393	NOBOX_HUMAN	0			4	453	-	A	A	Melanoma(164;0.14)		Silent	151						
NOC2L	26155	broad.mit.edu	GRCh37	1	887446	887446	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327044.6:c.1265C>T	p.Ala422Val	p.A422V	ENST00000327044	NM_015658.3	422	gCg/gTg	0			1			A	A/V	uc001abz.3	protein_coding	YES	CCDS3.1			1265/2250									ovary(1)|skin(1)	2	c.(1264-1266)GCG>GTG			hmmpanther:PTHR12687:SF4,hmmpanther:PTHR12687,Pfam_domain:PF03715,Superfamily_domains:SSF48371	nucleolar complex associated 2 homolog				ENSP00000317992		19-Nov	0.000148		0.000434			0.000197			rs755408287,COSM3401067	19-Nov	common_variant		ENST00000327044	Transcript				nucleolus	protein binding	ENSG00000188976	g.chr1:887446G>A	24517			MODERATE		0.485	neutral	getma.org/?cm=msa&ty=f&p=NOC2L_HUMAN&rb=325&re=623&var=A422V	NA	getma.org/?cm=var&var=hg19,1,887446,G,A&fts=all	A422V	--	--	1																																		NOC2L_uc001aby.3_Missense_Mutation_p.A219V|NOC2L_uc009vjq.2_Missense_Mutation_p.A422V	0,1	1		benign(0.002)	p.A422V	NM_015658	NP_056473		tolerated(1)	0,1	NOC2L_HUMAN	NOC2L	HGNC	Q9Y3T9	NOC2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)			11	1324	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	UPI000041820C	422					SNV	NOC2L,missense_variant,p.Ala422Val,ENST00000327044,NM_015658.3;NOC2L,downstream_gene_variant,,ENST00000487214,;NOC2L,non_coding_transcript_exon_variant,,ENST00000477976,;	uc001abz.3	c.1265C>T	1315/2790	2	2			c.1265C>T						1	SNP	c.(1264-1266)GCG>GTG	35	35			ovary(1)|skin(1)	2	Broad	nucleolar complex associated 2 homolog			887446		0.592	ENSG00000188976	10325	g.chr1:887446G>A		nucleolus	protein binding							158.831568	KEEP	22	30	-1	9	15	22	30	-1	160.794118	9	15	0.676056	1	0	0	0	0	1	0	0	0	--	--		0	A			NOC2L_uc001aby.3_Missense_Mutation_p.A219V|NOC2L_uc009vjq.2_Missense_Mutation_p.A422V	102	GBM-06-5858-TP	p.A422V	G	GCTGGGGCCCGCAGTGCTCAG	NM_015658	NP_056473	887446	Q9Y3T9	NOC2L_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	11	1324	-	A	A	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	Missense_Mutation	422						
NOC3L	0	broad.mit.edu	GRCh37	10	96099659	96099659	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-26-5134-01	TCGA-26-5134-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371361.3:c.1799T>C	p.Val600Ala	p.V600A	ENST00000371361	NM_022451.9	600	gTt/gCt	0			1			G	V/A	uc001kjq.1	protein_coding	YES	CCDS7433.1			1799/2403									ovary(1)	1	c.(1798-1800)GTT>GCT			Superfamily_domains:SSF48371,PIRSF_domain:PIRSF028977,Pfam_domain:PF03914,hmmpanther:PTHR14428:SF5,hmmpanther:PTHR14428	nucleolar complex associated 3 homolog				ENSP00000360412		17/21	1.65E-05		0.000173						rs779977297,COSM2157032	17/21	.		ENST00000371361	Transcript				nuclear speck|nucleolus	binding	ENSG00000173145	g.chr10:96099659A>G	24034			MODERATE		0.32	neutral	getma.org/?cm=msa&ty=f&p=NOC3L_HUMAN&rb=555&re=709&var=V600A	NA	getma.org/?cm=var&var=hg19,10,96099659,A,G&fts=all	V600A	--	--	1																																			0,1	1		benign(0.032)	p.V600A	NM_022451	NP_071896		tolerated(0.22)	0,1	NOC3L_HUMAN	NOC3L	HGNC	Q8WTT2	NOC3L_HUMAN					17	1887	-		Colorectal(252;0.0897)	UPI000006DE09	600					SNV	NOC3L,missense_variant,p.Val600Ala,ENST00000371361,NM_022451.9;NOC3L,missense_variant,p.Val600Ala,ENST00000371350,;NOC3L,missense_variant,p.Val338Ala,ENST00000543788,;	uc001kjq.1	c.1799T>C	1900/3455	4	4			c.1799T>C						10	SNP	c.(1798-1800)GTT>GCT	18	18			ovary(1)	1	Broad	nucleolar complex associated 3 homolog			96099659		0.433	ENSG00000173145	10326	g.chr10:96099659A>G		nuclear speck|nucleolus	binding							203.570556	KEEP	30	26	-1	2	4	30	26	-1	212.402299	2	4	0.894737	1	0	0	0	0	1	0	0	0	--	--		0	G				183	GBM-26-5134-TP	p.V600A	A	TACAATCTCAACACCTTCATT	NM_022451	NP_071896	96099659	Q8WTT2	NOC3L_HUMAN	0			17	1887	-	G	G		Colorectal(252;0.0897)	Missense_Mutation	600						
NOD1	10392	broad.mit.edu	GRCh37	7	30492358	30492358	+	synonymous_variant	Silent	SNP	G	G	A	rs150842987		TCGA-02-2485-01	TCGA-02-2485-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222823.4:c.675C>T	p.Asp225=	p.D225=	ENST00000222823	NM_006092.2	225	gaC/gaT	0	C:0		1			A	D	uc003tav.2	protein_coding	YES	CCDS5427.1			675/2862									ovary(1)|skin(1)	2	c.(673-675)GAC>GAT			Pfam_domain:PF05729,Gene3D:3.40.50.300,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF18,PROSITE_profiles:PS50837	nucleotide-binding oligomerization domain			C:0.0002	ENSP00000222823		14-Jun	1.65E-05	9.65E-05				1.50E-05			rs150842987,COSM3411972	14-Jun	.		ENST00000222823	Transcript			activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	ENSG00000106100	g.chr7:30492358G>A	16390			LOW								--	--	1																																		NOD1_uc010kvs.2_Intron	0,1	1			p.D225D	NM_006092	NP_006083			0,1	NOD1_HUMAN	NOD1	HGNC	Q9Y239	NOD1_HUMAN			Q7Z2K1_HUMAN,C9J8X8_HUMAN		6	1198	-			UPI00000375EE	225			NACHT.		SNV	NOD1,synonymous_variant,p.=,ENST00000222823,NM_006092.2;NOD1,intron_variant,,ENST00000423334,;NOD1,downstream_gene_variant,,ENST00000411552,;NOD1,downstream_gene_variant,,ENST00000419799,;NOD1,downstream_gene_variant,,ENST00000413433,;NOD1,downstream_gene_variant,,ENST00000419601,;NOD1,synonymous_variant,p.=,ENST00000434755,;NOD1,upstream_gene_variant,,ENST00000489614,;	uc003tav.2	c.675C>T	1201/4499	2	2			c.675C>T						7	SNP	c.(673-675)GAC>GAT	31	31			ovary(1)|skin(1)	2	Broad	nucleotide-binding oligomerization domain			30492358		0.577	ENSG00000106100	10328	g.chr7:30492358G>A	activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity							141.439592	KEEP	27	24	-1	43	39	27	24	-1	142.097376	43	39	0.420168	1	0	0	0	0	0	0	1	0	--	--		0	A			NOD1_uc010kvs.2_Intron	7	GBM-02-2485-TP	p.D225D	G	TGACCCCTGCGTCTAGCCGGC	NM_006092	NP_006083	30492358	Q9Y239	NOD1_HUMAN	0			6	1198	-	A	A			Silent	225			NACHT.			
NOD1	0	broad.mit.edu	GRCh37	7	30492365	30492365	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs139576372		TCGA-12-3652-01	TCGA-12-3652-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222823.4:c.668G>A	p.Arg223Gln	p.R223Q	ENST00000222823	NM_006092.2	223	cGg/cAg	0	T:0.0002	T:0.0008	1	T:0		T	R/Q	uc003tav.2	protein_coding	YES	CCDS5427.1			668/2862									ovary(1)|skin(1)	2	c.(667-669)CGG>CAG			Pfam_domain:PF05729,Gene3D:3.40.50.300,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF18,PROSITE_profiles:PS50837	nucleotide-binding oligomerization domain		T:0	T:0	ENSP00000222823	T:0	14-Jun	1.65E-05	9.64E-05				1.50E-05			rs139576372,COSM3028213	14-Jun	.		ENST00000222823	Transcript		T:0.0002	activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	ENSG00000106100	g.chr7:30492365C>T	16390			MODERATE		-0.31	neutral	getma.org/?cm=msa&ty=f&p=NOD1_HUMAN&rb=196&re=368&var=R223Q	NA	getma.org/?cm=var&var=hg19,7,30492365,C,T&fts=all	R223Q	--	--	1																																		NOD1_uc010kvs.2_Intron	0,1	1		benign(0.008)	p.R223Q	NM_006092	NP_006083	T:0	tolerated(0.54)	0,1	NOD1_HUMAN	NOD1	HGNC	Q9Y239	NOD1_HUMAN			Q7Z2K1_HUMAN,C9J8X8_HUMAN		6	1191	-			UPI00000375EE	223			NACHT.		SNV	NOD1,missense_variant,p.Arg223Gln,ENST00000222823,NM_006092.2;NOD1,intron_variant,,ENST00000423334,;NOD1,downstream_gene_variant,,ENST00000411552,;NOD1,downstream_gene_variant,,ENST00000419799,;NOD1,downstream_gene_variant,,ENST00000413433,;NOD1,downstream_gene_variant,,ENST00000419601,;NOD1,missense_variant,p.Arg223Gln,ENST00000434755,;NOD1,upstream_gene_variant,,ENST00000489614,;	uc003tav.2	c.668G>A	1194/4499	2	2			c.668G>A						7	SNP	c.(667-669)CGG>CAG	17	17			ovary(1)|skin(1)	2	Broad	nucleotide-binding oligomerization domain			30492365		0.577	ENSG00000106100	10328	g.chr7:30492365C>T	activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity							101.433935	KEEP	17	20	-1	38	32	17	20	-1	103.228329	38	32	0.354167	1	0	0	0	0	1	0	0	0	--	--		0	T			NOD1_uc010kvs.2_Intron	127	GBM-12-3652-TP	p.R223Q	C	TGCGTCTAGCCGGCCCGTGGC	NM_006092	NP_006083	30492365	Q9Y239	NOD1_HUMAN	0			6	1191	-	T	T			Missense_Mutation	223			NACHT.			
NOD1	0	broad.mit.edu	GRCh37	7	30496383	30496383	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2634-01	TCGA-32-2634-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222823.4:c.155C>T	p.Ala52Val	p.A52V	ENST00000222823	NM_006092.2	52	gCc/gTc	0			1			A	A/V	uc003tav.2	protein_coding	YES	CCDS5427.1			155/2862									ovary(1)|skin(1)	2	c.(154-156)GCC>GTC			Superfamily_domains:SSF47986,Gene3D:1.10.533.10,Pfam_domain:PF00619,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF18,PROSITE_profiles:PS50209	nucleotide-binding oligomerization domain				ENSP00000222823		14-Apr									COSM3411973	14-Apr	.		ENST00000222823	Transcript			activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	ENSG00000106100	g.chr7:30496383G>A	16390			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=NOD1_HUMAN&rb=20&re=104&var=A52V	getma.org/pdb.php?prot=NOD1_HUMAN&from=20&to=104&var=A52V	getma.org/?cm=var&var=hg19,7,30496383,G,A&fts=all	A52V	--	--	1																																		NOD1_uc010kvs.2_Missense_Mutation_p.A52V|NOD1_uc003tax.2_RNA|NOD1_uc003tay.2_RNA|NOD1_uc010kvt.2_RNA|NOD1_uc010kvu.2_RNA	1	1		benign(0.01)	p.A52V	NM_006092	NP_006083		tolerated(0.27)	1	NOD1_HUMAN	NOD1	HGNC	Q9Y239	NOD1_HUMAN			Q7Z2K1_HUMAN,C9J8X8_HUMAN		4	678	-			UPI00000375EE	52			CARD.		SNV	NOD1,missense_variant,p.Ala52Val,ENST00000222823,NM_006092.2;NOD1,missense_variant,p.Ala52Val,ENST00000423334,;NOD1,missense_variant,p.Ala52Val,ENST00000411552,;NOD1,missense_variant,p.Ala52Val,ENST00000419799,;NOD1,missense_variant,p.Ala52Val,ENST00000413433,;NOD1,downstream_gene_variant,,ENST00000419601,;NOD1,missense_variant,p.Ala52Val,ENST00000434755,;	uc003tav.2	c.155C>T	681/4499	2	2			c.155C>T						7	SNP	c.(154-156)GCC>GTC	28	28			ovary(1)|skin(1)	2	Broad	nucleotide-binding oligomerization domain			30496383		0.552	ENSG00000106100	10328	g.chr7:30496383G>A	activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity							121.989311	KEEP	29	18	-1	38	27	29	18	-1	122.384477	38	27	0.430108	1	0	0	0	0	1	0	0	0	--	--		0	A			NOD1_uc010kvs.2_Missense_Mutation_p.A52V|NOD1_uc003tax.2_RNA|NOD1_uc003tay.2_RNA|NOD1_uc010kvt.2_RNA|NOD1_uc010kvu.2_RNA	241	GBM-32-2634-TP	p.A52V	G	CGCATCTTCGGCCGAGAAGTA	NM_006092	NP_006083	30496383	Q9Y239	NOD1_HUMAN	0			4	678	-	A	A			Missense_Mutation	52			CARD.			
NOD2	64127	broad.mit.edu	GRCh37	16	50731207	50731209	+	inframe_deletion	In_Frame_Del	DEL	TCC	TCC	-			TCGA-06-0878-01	TCGA-06-0878-01	TCC	TCC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300589.2:c.58_60del	p.Leu20del	p.L20del	ENST00000300589	NM_022162.1	18	gTCCtc/gtc	0			1			-	VL/V	uc002egm.1	protein_coding	YES	CCDS10746.1			53-55/3123									ovary(3)|skin(1)	4	c.(52-57)GTCCTC>GTC				nucleotide-binding oligomerization domain				ENSP00000300589		12-Jan										12-Jan	.		ENST00000300589	Transcript	1		activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	ENSG00000167207	g.chr16:50731207_50731209delTCC	5331	5		MODERATE								--	--	1																																		NOD2_uc010cbj.1_Intron|NOD2_uc010cbk.1_Intron|NOD2_uc002egl.1_5'UTR		1			p.L20del	NM_022162	NP_071445				NOD2_HUMAN	NOD2	HGNC	Q9HC29	NOD2_HUMAN			Q7Z597_HUMAN,Q7Z596_HUMAN,Q6TDC3_HUMAN,E9PK30_HUMAN,D9N2T7_HUMAN,D6CHF9_HUMAN,B5B2Z6_HUMAN,B5B2Z5_HUMAN,B5B2Z4_HUMAN,B5A7D5_HUMAN,A7KZR0_HUMAN,A7KZQ9_HUMAN,A7J384_HUMAN,A3FA72_HUMAN		1	158_160	+		all_cancers(37;0.0156)	UPI000005027A	20					deletion	NOD2,inframe_deletion,p.Leu20del,ENST00000300589,NM_022162.1;NOD2,intron_variant,,ENST00000531674,;NOD2,non_coding_transcript_exon_variant,,ENST00000532206,;NOD2,intron_variant,,ENST00000526417,;NOD2,inframe_deletion,p.Leu20del,ENST00000527070,;	uc002egm.1	c.53_55delTCC	158-160/4486	5	5			c.53_55delTCC						16	DEL	c.(52-57)GTCCTC>GTC	64	64			ovary(3)|skin(1)	4	Broad	nucleotide-binding oligomerization domain			50731209		0.601	ENSG00000167207	10329	g.chr16:50731207_50731209delTCC	activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding																				0.46	1	1	0	1	0	0	0	0	0	--	--		0	-			NOD2_uc010cbj.1_Intron|NOD2_uc010cbk.1_Intron|NOD2_uc002egl.1_5'UTR	74	GBM-06-0878-TP	p.L20del	TCC	AGAGCAAGTGTCCTCCTCGGACA	NM_022162	NP_071445	50731207	Q9HC29	NOD2_HUMAN	0			1	158_160	+	-	-		all_cancers(37;0.0156)	In_Frame_Del	20						
NOD2	64127	broad.mit.edu	GRCh37	16	50733737	50733737	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-5412-01	TCGA-06-5412-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300589.2:c.412C>G	p.Arg138Gly	p.R138G	ENST00000300589	NM_022162.1	138	Cgg/Ggg	0			1			G	R/G	uc002egm.1	protein_coding	YES	CCDS10746.1			412/3123									ovary(3)|skin(1)	4	c.(412-414)CGG>GGG			Gene3D:1.10.533.10,Pfam_domain:PF00619,PROSITE_profiles:PS50209,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF64,Superfamily_domains:SSF47986	nucleotide-binding oligomerization domain				ENSP00000300589		12-Feb									COSM3402348	12-Feb	.		ENST00000300589	Transcript	1		activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	ENSG00000167207	g.chr16:50733737C>G	5331			MODERATE		2.005	medium	getma.org/?cm=msa&ty=f&p=NOD2_HUMAN&rb=131&re=216&var=R138G	NA	getma.org/?cm=var&var=hg19,16,50733737,C,G&fts=all	R138G	--	--	1																																		NOD2_uc010cbj.1_Missense_Mutation_p.R111G|NOD2_uc010cbk.1_Missense_Mutation_p.R111G|NOD2_uc002egl.1_5'UTR	1	1		probably_damaging(0.987)	p.R138G	NM_022162	NP_071445		deleterious(0)	1	NOD2_HUMAN	NOD2	HGNC	Q9HC29	NOD2_HUMAN			Q7Z597_HUMAN,Q7Z596_HUMAN,Q6TDC3_HUMAN,E9PK30_HUMAN,D9N2T7_HUMAN,D6CHF9_HUMAN,B5B2Z6_HUMAN,B5B2Z5_HUMAN,B5B2Z4_HUMAN,B5A7D5_HUMAN,A7KZR0_HUMAN,A7KZQ9_HUMAN,A7J384_HUMAN,A3FA72_HUMAN		2	517	+		all_cancers(37;0.0156)	UPI000005027A	138			CARD 2.		SNV	NOD2,missense_variant,p.Arg138Gly,ENST00000300589,NM_022162.1;NOD2,missense_variant,p.Arg111Gly,ENST00000531674,;NOD2,non_coding_transcript_exon_variant,,ENST00000526417,;NOD2,non_coding_transcript_exon_variant,,ENST00000532206,;NOD2,3_prime_UTR_variant,,ENST00000527070,;	uc002egm.1	c.412C>G	517/4486	3	3			c.412C>G						16	SNP	c.(412-414)CGG>GGG	62	62			ovary(3)|skin(1)	4	Broad	nucleotide-binding oligomerization domain			50733737		0.632	ENSG00000167207	10329	g.chr16:50733737C>G	activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding							-3.401921	KEEP	5	4	-1	44	65	5	4	-1	15.9045	44	65	0.069307	1	0	0	0	0	1	0	0	0	--	--		0	G			NOD2_uc010cbj.1_Missense_Mutation_p.R111G|NOD2_uc010cbk.1_Missense_Mutation_p.R111G|NOD2_uc002egl.1_5'UTR	95	GBM-06-5412-TP	p.R138G	C	GCAGAGTCACCGGCCAGCCAT	NM_022162	NP_071445	50733737	Q9HC29	NOD2_HUMAN	0			2	517	+	G	G		all_cancers(37;0.0156)	Missense_Mutation	138			CARD 2.			
NOD2	0	broad.mit.edu	GRCh37	16	50745689	50745689	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-26-1439-01	TCGA-26-1439-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300589.2:c.1867C>G	p.Pro623Ala	p.P623A	ENST00000300589	NM_022162.1	623	Cca/Gca	0			1			G	P/A	uc002egm.1	protein_coding	YES	CCDS10746.1			1867/3123									ovary(3)|skin(1)	4	c.(1867-1869)CCA>GCA			hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF64	nucleotide-binding oligomerization domain				ENSP00000300589		12-Apr									COSM3402349	12-Apr	.		ENST00000300589	Transcript	1		activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	ENSG00000167207	g.chr16:50745689C>G	5331			MODERATE		2.32	medium	getma.org/?cm=msa&ty=f&p=NOD2_HUMAN&rb=464&re=663&var=P623A	NA	getma.org/?cm=var&var=hg19,16,50745689,C,G&fts=all	P623A	--	--	1																																		NOD2_uc010cbk.1_Missense_Mutation_p.P596A|NOD2_uc002egl.1_Missense_Mutation_p.P401A|NOD2_uc010cbl.1_Missense_Mutation_p.P401A|NOD2_uc010cbm.1_Missense_Mutation_p.P401A|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	1	1		benign(0.003)	p.P623A	NM_022162	NP_071445		tolerated(0.6)	1	NOD2_HUMAN	NOD2	HGNC	Q9HC29	NOD2_HUMAN			Q7Z597_HUMAN,Q7Z596_HUMAN,Q6TDC3_HUMAN,E9PK30_HUMAN,D9N2T7_HUMAN,D6CHF9_HUMAN,B5B2Z6_HUMAN,B5B2Z5_HUMAN,B5B2Z4_HUMAN,B5A7D5_HUMAN,A7KZR0_HUMAN,A7KZQ9_HUMAN,A7J384_HUMAN,A3FA72_HUMAN		4	1972	+		all_cancers(37;0.0156)	UPI000005027A	623					SNV	NOD2,missense_variant,p.Pro623Ala,ENST00000300589,NM_022162.1;NOD2,upstream_gene_variant,,ENST00000534057,;RP11-327F22.6,upstream_gene_variant,,ENST00000602304,;NOD2,downstream_gene_variant,,ENST00000526417,;NOD2,downstream_gene_variant,,ENST00000532206,;NOD2,downstream_gene_variant,,ENST00000527070,;NOD2,upstream_gene_variant,,ENST00000534067,;NOD2,upstream_gene_variant,,ENST00000529633,;NOD2,upstream_gene_variant,,ENST00000524712,;NOD2,upstream_gene_variant,,ENST00000527052,;	uc002egm.1	c.1867C>G	1972/4486	3	3			c.1867C>G						16	SNP	c.(1867-1869)CCA>GCA	4	4			ovary(3)|skin(1)	4	Broad	nucleotide-binding oligomerization domain			50745689		0.582	ENSG00000167207	10329	g.chr16:50745689C>G	activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding							-6.800863	KEEP	0	2	-1	31	39	0	2	-1	6.307443	31	39	0.035714	1	0	0	0	0	1	0	0	0	--	--		0	G			NOD2_uc010cbk.1_Missense_Mutation_p.P596A|NOD2_uc002egl.1_Missense_Mutation_p.P401A|NOD2_uc010cbl.1_Missense_Mutation_p.P401A|NOD2_uc010cbm.1_Missense_Mutation_p.P401A|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	179	GBM-26-1439-TP	p.P623A	C	TGATGTGCCACCAGCTTTGCT	NM_022162	NP_071445	50745689	Q9HC29	NOD2_HUMAN	0			4	1972	+	G	G		all_cancers(37;0.0156)	Missense_Mutation	623						
NOL11	25926	broad.mit.edu	GRCh37	17	65733682	65733682	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0237-01	TCGA-06-0237-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000253247.4:c.1277del	p.Thr426AsnfsTer12	p.T426Nfs*12	ENST00000253247	NM_015462.3	426	aCa/aa	0			1			-	T/X	uc002jgd.1	protein_coding	YES	CCDS11671.1			1277/2160										0	c.(1276-1278)ACAfs			hmmpanther:PTHR15633,hmmpanther:PTHR15633:SF2	nucleolar protein 11				ENSP00000253247		18-Dec									COSM2151053	18-Dec	.		ENST00000253247	Transcript				nucleolus		ENSG00000130935	g.chr17:65733682delC	24557			HIGH								--	--	1																																		NOL11_uc010wql.1_Frame_Shift_Del_p.T244fs|NOL11_uc010deu.1_Frame_Shift_Del_p.T21fs	1	1			p.T426fs	NM_015462	NP_056277			1	NOL11_HUMAN	NOL11	HGNC	Q9H8H0	NOL11_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)				12	1280	+	all_cancers(12;1.54e-10)		UPI0000072B83	426					deletion	NOL11,frameshift_variant,p.Thr426AsnfsTer12,ENST00000253247,NM_015462.3;NOL11,frameshift_variant,p.Thr244AsnfsTer12,ENST00000535137,;NOL11,frameshift_variant,p.Thr231AsnfsTer12,ENST00000580833,;NOL11,upstream_gene_variant,,ENST00000583021,;SNORA38B,upstream_gene_variant,,ENST00000363524,NR_003706.2;NOL11,3_prime_UTR_variant,,ENST00000581375,;NOL11,non_coding_transcript_exon_variant,,ENST00000583108,;NOL11,non_coding_transcript_exon_variant,,ENST00000577687,;	uc002jgd.1	c.1277delC	1392/2947	5	5			c.1277delC						17	DEL	c.(1276-1278)ACAfs	29	29				0	Broad	nucleolar protein 11			65733682		0.408	ENSG00000130935	10333	g.chr17:65733682delC		nucleolus																					0.44	1	1	0	1	0	0	0	0	0	--	--		0	-			NOL11_uc010wql.1_Frame_Shift_Del_p.T244fs|NOL11_uc010deu.1_Frame_Shift_Del_p.T21fs	54	GBM-06-0237-TP	p.T426fs	C	CTGAAGCAGACACCTGACTTT	NM_015462	NP_056277	65733682	Q9H8H0	NOL11_HUMAN	0	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)		12	1280	+	-	-	all_cancers(12;1.54e-10)		Frame_Shift_Del	426						
NOL3	0	broad.mit.edu	GRCh37	16	67208819	67208819	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5951-01	TCGA-19-5951-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268605.7:c.591C>T	p.Pro197=	p.P197=	ENST00000268605	NM_001185057.2	197	ccC/ccT	0			1			T	P	uc010vjd.1	protein_coding		CCDS42176.1			591/627										0	c.(766-768)CCG>CTG			Low_complexity_(Seg):seg,hmmpanther:PTHR22797,hmmpanther:PTHR22797:SF24	RecName: Full=Nucleolar protein 3; AltName: Full=Apoptosis repressor with CARD; AltName: Full=Muscle-enriched cytoplasmic protein;          Short=Myp; AltName: Full=Nucleolar protein of 30 kDa;          Short=Nop30;				ENSP00000268605		4-Mar									COSM3402410	4-Mar	.		ENST00000268605	Transcript	1		anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding	ENSG00000140939	g.chr16:67208819C>T	7869			LOW								--	--	1																																		NOL3_uc010vjc.1_Silent_p.P259P|NOL3_uc002erp.2_Silent_p.P197P	1				p.P256L					1	NOL3_HUMAN	NOL3	HGNC	O60936	NOL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	Q5TZN6_HUMAN,H3BUP2_HUMAN,H3BUN4_HUMAN,H3BM67_HUMAN		3	774	+		Ovarian(137;0.192)	UPI000002AF6E	194					SNV	NOL3,missense_variant,p.Pro194Leu,ENST00000568146,;NOL3,missense_variant,p.Pro191Leu,ENST00000566871,;NOL3,missense_variant,p.Pro25Leu,ENST00000564860,;NOL3,synonymous_variant,p.=,ENST00000432069,NM_001276312.1,NM_001276319.1,NM_001276309.1;NOL3,synonymous_variant,p.=,ENST00000564053,;NOL3,synonymous_variant,p.=,ENST00000268605,NM_001185057.2,NM_003946.6;NOL3,synonymous_variant,p.=,ENST00000563258,;NOL3,synonymous_variant,p.=,ENST00000564992,;KIAA0895L,downstream_gene_variant,,ENST00000290881,;KIAA0895L,downstream_gene_variant,,ENST00000561621,;HSF4,downstream_gene_variant,,ENST00000264009,NM_001040667.2;HSF4,downstream_gene_variant,,ENST00000421453,NM_001538.3;KIAA0895L,downstream_gene_variant,,ENST00000563902,NM_001040715.1;KIAA0895L,downstream_gene_variant,,ENST00000568563,;HSF4,downstream_gene_variant,,ENST00000584272,;NOL3,downstream_gene_variant,,ENST00000563439,;NOL3,downstream_gene_variant,,ENST00000565560,;HSF4,downstream_gene_variant,,ENST00000520304,;HSF4,downstream_gene_variant,,ENST00000521916,;KIAA0895L,downstream_gene_variant,,ENST00000563831,;KIAA0895L,downstream_gene_variant,,ENST00000563918,;KIAA0895L,downstream_gene_variant,,ENST00000570009,;NOL3,downstream_gene_variant,,ENST00000568199,;NOL3,downstream_gene_variant,,ENST00000565645,;KIAA0895L,downstream_gene_variant,,ENST00000562514,;KIAA0895L,downstream_gene_variant,,ENST00000564423,;NOL3,non_coding_transcript_exon_variant,,ENST00000568503,;KIAA0895L,downstream_gene_variant,,ENST00000561679,;KIAA0895L,downstream_gene_variant,,ENST00000569349,;HSF4,downstream_gene_variant,,ENST00000523562,;HSF4,downstream_gene_variant,,ENST00000521314,;HSF4,downstream_gene_variant,,ENST00000522295,;HSF4,downstream_gene_variant,,ENST00000521624,;KIAA0895L,downstream_gene_variant,,ENST00000564835,;NOL3,downstream_gene_variant,,ENST00000568086,;KIAA0895L,downstream_gene_variant,,ENST00000568165,;	uc010vjd.1	c.767C>T	679/1382	1	1			c.767C>T						16	SNP	c.(766-768)CCG>CTG	3	3				0	Broad	RecName: Full=Nucleolar protein 3; AltName: Full=Apoptosis repressor with CARD; AltName: Full=Muscle-enriched cytoplasmic protein;          Short=Myp; AltName: Full=Nucleolar protein of 30 kDa;          Short=Nop30;			67208819		0.323	ENSG00000140939	10335	g.chr16:67208819C>T	anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding							-3.198746	KEEP	1	2	-1	18	33	1	2	-1	6.906797	18	33	0.06	1	0	0	0	0	1	0	0	0	--	--		0	T			NOL3_uc010vjc.1_Silent_p.P259P|NOL3_uc002erp.2_Silent_p.P197P	171	GBM-19-5951-TP	p.P256L	C	agcccgagcccgacttcgaGG			67208819	O60936	NOL3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	3	774	+	T	T		Ovarian(137;0.192)	Missense_Mutation	194						
NOL4	0	broad.mit.edu	GRCh37	18	31432915	31432915	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261592.5:c.1808C>T	p.Pro603Leu	p.P603L	ENST00000261592	NM_001198546.1	603	cCa/cTa	0			1			A	P/L	uc010dmi.2	protein_coding	YES	CCDS11907.2			1808/1917									ovary(3)	3	c.(1807-1809)CCA>CTA			hmmpanther:PTHR12449,hmmpanther:PTHR12449:SF8	nucleolar protein 4				ENSP00000261592		11-Nov									COSM3403527	11-Nov	.		ENST00000261592	Transcript				nucleolus	RNA binding	ENSG00000101746	g.chr18:31432915G>A	7870			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=NOL4_HUMAN&rb=1&re=636&var=P603L	NA	getma.org/?cm=var&var=hg19,18,31432915,G,A&fts=all	P603L	--	--	1																																		NOL4_uc010xbs.1_Missense_Mutation_p.P318L|NOL4_uc002kxr.3_Missense_Mutation_p.P375L|NOL4_uc010xbt.1_Missense_Mutation_p.P529L|NOL4_uc010dmh.2_Missense_Mutation_p.P465L|NOL4_uc010xbu.1_Missense_Mutation_p.P539L|NOL4_uc002kxt.3_Missense_Mutation_p.P501L	1	1		possibly_damaging(0.908)	p.P603L	NM_003787	NP_003778		deleterious(0.01)	1	NOL4_HUMAN	NOL4	HGNC	O94818	NOL4_HUMAN					11	2037	-			UPI000059D504	603					SNV	NOL4,missense_variant,p.Pro603Leu,ENST00000261592,NM_001198546.1,NM_003787.4;NOL4,missense_variant,p.Pro387Leu,ENST00000269185,NM_001198548.1;NOL4,missense_variant,p.Pro501Leu,ENST00000589544,;NOL4,missense_variant,p.Pro384Leu,ENST00000535475,;NOL4,missense_variant,p.Pro529Leu,ENST00000538587,NM_001198547.1;NOL4,missense_variant,p.Pro523Leu,ENST00000590712,;NOL4,missense_variant,p.Pro318Leu,ENST00000535384,NM_001198549.1;NOL4,3_prime_UTR_variant,,ENST00000586314,;	uc010dmi.2	c.1808C>T	2106/3957	1	1			c.1808C>T						18	SNP	c.(1807-1809)CCA>CTA	59	59			ovary(3)	3	Broad	nucleolar protein 4			31432915		0.448	ENSG00000101746	10336	g.chr18:31432915G>A		nucleolus	RNA binding							-15.79608	KEEP	2	2	-1	60	52	2	2	-1	7.870465	60	52	0.038835	1	0	0	0	0	1	0	0	0	--	--		0	A			NOL4_uc010xbs.1_Missense_Mutation_p.P318L|NOL4_uc002kxr.3_Missense_Mutation_p.P375L|NOL4_uc010xbt.1_Missense_Mutation_p.P529L|NOL4_uc010dmh.2_Missense_Mutation_p.P465L|NOL4_uc010xbu.1_Missense_Mutation_p.P539L|NOL4_uc002kxt.3_Missense_Mutation_p.P501L	160	GBM-19-1790-TP	p.P603L	G	GATTTCAGTTGGACTCAGCTG	NM_003787	NP_003778	31432915	O94818	NOL4_HUMAN	0			11	2037	-	A	A			Missense_Mutation	603						
NOL6	0	broad.mit.edu	GRCh37	9	33465223	33465223	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-2623-01	TCGA-19-2623-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297990.4:c.2663A>G	p.Glu888Gly	p.E888G	ENST00000297990	NM_022917.4	888	gAg/gGg	0			1			C	E/G	uc003zsz.2	protein_coding	YES	CCDS6543.1			2663/3441									ovary(2)	2	c.(2662-2664)GAG>GGG			Pfam_domain:PF03813,hmmpanther:PTHR17972	nucleolar protein family 6 alpha isoform				ENSP00000297990		20/26									rs745624751,COSM3413610,COSM3413611	20/26	.		ENST00000297990	Transcript			rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	ENSG00000165271	g.chr9:33465223T>C	19910			MODERATE		1.65	low	getma.org/?cm=msa&ty=f&p=NOL6_HUMAN&rb=165&re=1140&var=E888G	NA	getma.org/?cm=var&var=hg19,9,33465223,T,C&fts=all	E888G	--	--	1																																		SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Missense_Mutation_p.E885G|NOL6_uc011lob.1_Missense_Mutation_p.E836G|NOL6_uc003ztb.1_Missense_Mutation_p.E888G	0,1,1	1		benign(0.309)	p.E888G	NM_022917	NP_075068		tolerated(0.06)	0,1,1	NOL6_HUMAN	NOL6	HGNC	Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)			20	2764	-			UPI0000050326	888					SNV	NOL6,missense_variant,p.Glu888Gly,ENST00000297990,NM_022917.4;NOL6,missense_variant,p.Glu888Gly,ENST00000379471,;NOL6,missense_variant,p.Glu836Gly,ENST00000455041,;NOL6,intron_variant,,ENST00000353159,NM_139235.3;NOL6,upstream_gene_variant,,ENST00000379470,;NOL6,intron_variant,,ENST00000464829,;	uc003zsz.2	c.2663A>G	2751/4741	4	4			c.2663A>G						9	SNP	c.(2662-2664)GAG>GGG	48	48			ovary(2)	2	Broad	nucleolar protein family 6 alpha isoform			33465223		0.602	ENSG00000165271	10337	g.chr9:33465223T>C	rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding							7.249303	KEEP	2	0	-1	2	2	2	0	-1	7.29295	2	2	0.4	1	0	0	0	0	1	0	0	0	--	--		0	C			SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Missense_Mutation_p.E885G|NOL6_uc011lob.1_Missense_Mutation_p.E836G|NOL6_uc003ztb.1_Missense_Mutation_p.E888G	163	GBM-19-2623-TP	p.E888G	T	GGTGAAGGGCTCAGGGTGCAG	NM_022917	NP_075068	33465223	Q9H6R4	NOL6_HUMAN	0	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	20	2764	-	C	C			Missense_Mutation	888						
NOL6	0	broad.mit.edu	GRCh37	9	33464075	33464075	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01	TCGA-28-5216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297990.4:c.2864G>A	p.Arg955His	p.R955H	ENST00000297990	NM_022917.4	955	cGc/cAc	0			1			T	R/H	uc003zsz.2	protein_coding	YES	CCDS6543.1			2864/3441									ovary(2)	2	c.(2863-2865)CGC>CAC			Pfam_domain:PF03813,hmmpanther:PTHR17972	nucleolar protein family 6 alpha isoform				ENSP00000297990		22/26	1.65E-05		8.64E-05			1.50E-05			rs750316620,COSM753604,COSM3413609	22/26	.		ENST00000297990	Transcript			rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	ENSG00000165271	g.chr9:33464075C>T	19910			MODERATE		1.795	low	getma.org/?cm=msa&ty=f&p=NOL6_HUMAN&rb=165&re=1140&var=R955H	NA	getma.org/?cm=var&var=hg19,9,33464075,C,T&fts=all	R955H	--	--	1																																		SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_Missense_Mutation_p.R9H|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Missense_Mutation_p.R952H|NOL6_uc011lob.1_Missense_Mutation_p.R903H|NOL6_uc003ztb.1_Missense_Mutation_p.R955H	0,1,1	1		benign(0.032)	p.R955H	NM_022917	NP_075068		tolerated(0.06)	0,1,1	NOL6_HUMAN	NOL6	HGNC	Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)			22	2965	-			UPI0000050326	955					SNV	NOL6,missense_variant,p.Arg955His,ENST00000297990,NM_022917.4;NOL6,missense_variant,p.Arg955His,ENST00000379471,;NOL6,missense_variant,p.Arg903His,ENST00000455041,;NOL6,missense_variant,p.Arg9His,ENST00000379470,;NOL6,intron_variant,,ENST00000353159,NM_139235.3;NOL6,intron_variant,,ENST00000464829,;	uc003zsz.2	c.2864G>A	2952/4741	2	2			c.2864G>A						9	SNP	c.(2863-2865)CGC>CAC	19	19			ovary(2)	2	Broad	nucleolar protein family 6 alpha isoform			33464075		0.567	ENSG00000165271	10337	g.chr9:33464075C>T	rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding							-67.88248	KEEP	3	3	-1	163	156	3	3	-1	6.344026	163	156	0.020833	1	0	0	0	0	1	0	0	0	--	--		0	T			SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_Missense_Mutation_p.R9H|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Missense_Mutation_p.R952H|NOL6_uc011lob.1_Missense_Mutation_p.R903H|NOL6_uc003ztb.1_Missense_Mutation_p.R955H	223	GBM-28-5216-TP	p.R955H	C	AGAGTTTTTGCGGTCTTGGGG	NM_022917	NP_075068	33464075	Q9H6R4	NOL6_HUMAN	0	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	22	2965	-	T	T			Missense_Mutation	955						
NOL6	0	broad.mit.edu	GRCh37	9	33467806	33467806	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2491-01	TCGA-32-2491-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297990.4:c.1485G>A	p.Leu495=	p.L495=	ENST00000297990	NM_022917.4	495	ctG/ctA	0			1			T	L	uc003zsz.2	protein_coding	YES	CCDS6543.1			1485/3441									ovary(2)	2	c.(1483-1485)CTG>CTA			Pfam_domain:PF03813,hmmpanther:PTHR17972	nucleolar protein family 6 alpha isoform				ENSP00000297990		26-Dec									COSM3413612,COSM3413613	26-Dec	.		ENST00000297990	Transcript			rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	ENSG00000165271	g.chr9:33467806C>T	19910			LOW								--	--	1																																		SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Silent_p.L495L|NOL6_uc010mjv.2_Silent_p.L492L|NOL6_uc011lob.1_Silent_p.L443L|NOL6_uc003ztb.1_Silent_p.L495L	1,1	1			p.L495L	NM_022917	NP_075068			1,1	NOL6_HUMAN	NOL6	HGNC	Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)			12	1586	-			UPI0000050326	495					SNV	NOL6,synonymous_variant,p.=,ENST00000297990,NM_022917.4;NOL6,synonymous_variant,p.=,ENST00000379471,;NOL6,synonymous_variant,p.=,ENST00000455041,;NOL6,synonymous_variant,p.=,ENST00000353159,NM_139235.3;NOL6,upstream_gene_variant,,ENST00000379470,;NOL6,intron_variant,,ENST00000464829,;NOL6,downstream_gene_variant,,ENST00000496319,;	uc003zsz.2	c.1485G>A	1573/4741	2	2			c.1485G>A						9	SNP	c.(1483-1485)CTG>CTA	42	42			ovary(2)	2	Broad	nucleolar protein family 6 alpha isoform			33467806		0.637	ENSG00000165271	10337	g.chr9:33467806C>T	rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding							-2.213386	KEEP	0	3	-1	17	34	0	3	-1	6.549426	17	34	0.066667	1	0	0	0	0	0	0	1	0	--	--		0	T			SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Silent_p.L495L|NOL6_uc010mjv.2_Silent_p.L492L|NOL6_uc011lob.1_Silent_p.L443L|NOL6_uc003ztb.1_Silent_p.L495L	235	GBM-32-2491-TP	p.L495L	C	CATTGTCCTGCAGCTCTGGCC	NM_022917	NP_075068	33467806	Q9H6R4	NOL6_HUMAN	0	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	12	1586	-	T	T			Silent	495						
NOL8	55035		GRCh37	9	95078415	95078415	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000545558.1:c.492C>G	p.Ile164Met	p.I164M	ENST00000545558		164	atC/atG	0																																																																																																																																																																																																																																												
NOM1	0	broad.mit.edu	GRCh37	7	156743209	156743211	+	inframe_deletion	In_Frame_Del	DEL	GAG	GAG	-			TCGA-19-2631-01	TCGA-19-2631-01	GAG	GAG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275820.3:c.791_793delAGG	p.Glu264del	p.E264del	ENST00000275820	NM_138400.1	260	GAG/-	0		-:0.0015	1	-:0		-	E/-	uc003wmy.2	protein_coding	YES	CCDS34787.1			778-780/2583										0	c.(778-780)GAGdel			Low_complexity_(Seg):seg,hmmpanther:PTHR18034:SF4,hmmpanther:PTHR18034	nucleolar protein with MIF4G domain 1		-:0.002		ENSP00000275820	-:0	11-Jan									rs540622203,COSM1723197	11-Jan	.		ENST00000275820	Transcript		-:0.0010	RNA metabolic process	nucleolus	protein binding	ENSG00000146909	g.chr7:156743209_156743211delGAG	13244	13		MODERATE								--	--	1																																			0,1	1			p.E264del	NM_138400	NP_612409	-:0.001		0,1	NOM1_HUMAN	NOM1	HGNC	Q5C9Z4	NOM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)			1	793_795	+	Ovarian(565;0.218)	all_hematologic(28;0.0749)	UPI000020E71F	264			Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.		deletion	NOM1,inframe_deletion,p.Glu264del,ENST00000275820,NM_138400.1;RP5-1121A15.3,downstream_gene_variant,,ENST00000427073,;NOM1,upstream_gene_variant,,ENST00000460332,;	uc003wmy.2	c.778_780delGAG	793-795/6077	5	5			c.778_780delGAG						7	DEL	c.(778-780)GAGdel	1	1				0	Broad	nucleolar protein with MIF4G domain 1			156743211		0.236	ENSG00000146909	10342	g.chr7:156743209_156743211delGAG	RNA metabolic process	nucleolus	protein binding																				0.05	1	1	0	1	0	0	0	0	0	--	--		0	-				167	GBM-19-2631-TP	p.E264del	GAG	ggacgaaagtgaggaggaggagg	NM_138400	NP_612409	156743209	Q5C9Z4	NOM1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	1	793_795	+	-	-	Ovarian(565;0.218)	all_hematologic(28;0.0749)	In_Frame_Del	264			Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.			
NOMO1	0	broad.mit.edu	GRCh37	16	14968903	14968903	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000287667.7:c.2065G>A	p.Asp689Asn	p.D689N	ENST00000287667	NM_014287.3	689	Gac/Aac	0			1			A	D/N	uc002dcv.2	protein_coding	YES	CCDS10556.1			2065/3669									ovary(1)	1	c.(2065-2067)GAC>AAC			hmmpanther:PTHR23303	nodal modulator 1 precursor				ENSP00000287667		19/31	1.65E-05					3.00E-05			rs777784668,COSM3402092	19/31	.		ENST00000287667	Transcript				integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	ENSG00000103512	g.chr16:14968903G>A	30060			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=NOMO1_HUMAN&rb=607&re=806&var=D689N	NA	getma.org/?cm=var&var=hg19,16,14968903,G,A&fts=all	D689N	--	--	1																																			0,1	1		benign(0.032)	p.D689N	NM_014287	NP_055102		tolerated(0.13)	0,1	NOMO1_HUMAN	NOMO1	HGNC	Q15155	NOMO1_HUMAN			Q9H049_HUMAN		19	2131	+			UPI000013D37E	689			Extracellular (Potential).		SNV	NOMO1,missense_variant,p.Asp689Asn,ENST00000287667,NM_014287.3;	uc002dcv.2	c.2065G>A	2236/4355	2	2			c.2065G>A						16	SNP	c.(2065-2067)GAC>AAC	46	46			ovary(1)	1	Broad	nodal modulator 1 precursor			14968903		0.562	ENSG00000103512	10343	g.chr16:14968903G>A		integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding							240.04402	KEEP	41	42	-1	70	67	41	42	-1	240.045469	70	67	0.496644	1	0	0	0	0	1	0	0	0	--	--		0	A				270	GBM-76-4931-TP	p.D689N	G	GTCTTCCATCGACAGTGAACC	NM_014287	NP_055102	14968903	Q15155	NOMO1_HUMAN	0			19	2131	+	A	A			Missense_Mutation	689			Extracellular (Potential).			
NONO	0	broad.mit.edu	GRCh37	X	70514099	70514099	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-2494-01	TCGA-32-2494-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276079.8:c.371T>C	p.Ile124Thr	p.I124T	ENST00000276079	NM_007363.4	124	aTt/aCt	0			1			C	I/T	uc004dzo.2	protein_coding	YES	CCDS14410.1			371/1416	T		TFE3		papillary renal cancer		NONO/TFE3(2)		ovary(2)|kidney(2)	4	c.(370-372)ATT>ACT			Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF15,SMART_domains:SM00360,Superfamily_domains:SSF54928	non-POU domain containing, octamer-binding				ENSP00000276079		12-May									COSM3406563	12-May	.		ENST00000276079	Transcript	1		DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding	ENSG00000147140	g.chrX:70514099T>C	7871			MODERATE		-0.79	neutral	getma.org/?cm=msa&ty=f&p=NONO_HUMAN&rb=76&re=140&var=I124T	getma.org/pdb.php?prot=NONO_HUMAN&from=76&to=140&var=I124T	getma.org/?cm=var&var=hg19,X,70514099,T,C&fts=all	I124T	--	--	1																																		BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.2_Missense_Mutation_p.I124T|NONO_uc004dzp.2_Missense_Mutation_p.I124T|NONO_uc011mpv.1_Missense_Mutation_p.I35T|NONO_uc004dzq.2_5'UTR	1	1		benign(0.028)	p.I124T	NM_001145408	NP_001138880		tolerated(0.08)	1	NONO_HUMAN	NONO	HGNC	Q15233	NONO_HUMAN			C9JJ13_HUMAN,C9IZL7_HUMAN		6	1081	+	Renal(35;0.156)		UPI000002EFDD	124			DBHS.|RRM 1.		SNV	NONO,missense_variant,p.Ile35Thr,ENST00000535149,NM_001145410.1;NONO,missense_variant,p.Ile124Thr,ENST00000276079,NM_007363.4;NONO,missense_variant,p.Ile124Thr,ENST00000373841,NM_001145409.1;NONO,missense_variant,p.Ile124Thr,ENST00000373856,NM_001145408.1;NONO,missense_variant,p.Ile124Thr,ENST00000413858,;NONO,missense_variant,p.Ile124Thr,ENST00000454976,;NONO,missense_variant,p.Ile107Thr,ENST00000420903,;NONO,intron_variant,,ENST00000418921,;NONO,downstream_gene_variant,,ENST00000450092,;NONO,non_coding_transcript_exon_variant,,ENST00000490044,;NONO,non_coding_transcript_exon_variant,,ENST00000471419,;NONO,intron_variant,,ENST00000474431,;NONO,intron_variant,,ENST00000472185,;NONO,upstream_gene_variant,,ENST00000473525,;NONO,downstream_gene_variant,,ENST00000486613,;	uc004dzo.2	c.371T>C	576/2713	4	4			c.371T>C	T		TFE3		papillary renal cancer	23	SNP	c.(370-372)ATT>ACT	35	35	NONO/TFE3(2)		ovary(2)|kidney(2)	4	Broad	non-POU domain containing, octamer-binding			70514099		0.488	ENSG00000147140	10346	g.chrX:70514099T>C	DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding			130			130	-21.772749	KEEP	1	2	-1	52	82	1	2	-1	6.514229	52	82	0.026316	1	0	0	0	0	1	0	0	0	--	--		0	C			BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.2_Missense_Mutation_p.I124T|NONO_uc004dzp.2_Missense_Mutation_p.I124T|NONO_uc011mpv.1_Missense_Mutation_p.I35T|NONO_uc004dzq.2_5'UTR	236	GBM-32-2494-TP	p.I124T	T	CTAGCGGAGATTGCCAAAGTG	NM_001145408	NP_001138880	70514099	Q15233	NONO_HUMAN	0			6	1081	+	C	C	Renal(35;0.156)		Missense_Mutation	124			DBHS.|RRM 1.			
NOP16	0	broad.mit.edu	GRCh37	5	175811029	175811030	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C			TCGA-12-5301-01	TCGA-12-5301-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000510123.1:c.648dupG	p.Phe217ValfsTer14	p.F217Vfs*14	ENST00000510123	NM_001256539.1	216	-/G	0			1			C	-/X	uc003mee.2	protein_coding	YES	CCDS58991.1			648-649/711									ovary(1)|central_nervous_system(1)	2	c.(649-654)GGGTTCfs				SubName: Full=NOP16 protein; SubName: Full=Putative uncharacterized protein HSPC111;				ENSP00000421302		5-May										5-May	.		ENST00000510123	Transcript				nucleolus		ENSG00000048162	g.chr5:175811029_175811030insC	26934			HIGH								--	--	1																																		NOP16_uc003med.2_Frame_Shift_Ins_p.G216fs		1			p.G217fs						NOP16_HUMAN	NOP16	HGNC	Q9Y3C1	NOP16_HUMAN					5	651_652	-			UPI0001D3BACE	Error:Variant_position_missing_in_Q9Y3C1_after_alignment					insertion	NOP16,frameshift_variant,p.Phe217ValfsTer14,ENST00000510123,NM_001256539.1,NM_001256540.1,NM_016391.5;NOP16,3_prime_UTR_variant,,ENST00000389158,;NOP16,3_prime_UTR_variant,,ENST00000507413,;ARL10,intron_variant,,ENST00000503175,;ARL10,intron_variant,,ENST00000514533,;ARL10,downstream_gene_variant,,ENST00000310389,NM_173664.4;NOP16,downstream_gene_variant,,ENST00000509257,;HIGD2A,upstream_gene_variant,,ENST00000274787,NM_138820.2;NOP16,downstream_gene_variant,,ENST00000510608,;NOP16,downstream_gene_variant,,ENST00000503849,;NOP16,downstream_gene_variant,,ENST00000502663,;NOP16,downstream_gene_variant,,ENST00000504821,;NOP16,downstream_gene_variant,,ENST00000502577,;	uc003mee.2	c.651_652insG	871-872/952	5	5			c.651_652insG						5	INS	c.(649-654)GGGTTCfs	35	35			ovary(1)|central_nervous_system(1)	2	Broad	SubName: Full=NOP16 protein; SubName: Full=Putative uncharacterized protein HSPC111;			175811030		0.436	ENSG00000048162	10349	g.chr5:175811029_175811030insC		nucleolus																					0.28	1	0	0	1	1	0	0	0	0	--	--		0	C			NOP16_uc003med.2_Frame_Shift_Ins_p.G216fs	131	GBM-12-5301-TP	p.G217fs	-	TTTTCCGTGAACCCCCAGATGA			175811029	Q9Y3C1	NOP16_HUMAN	0			5	651_652	-	C	C			Frame_Shift_Ins	Error:Variant_position_missing_in_Q9Y3C1_after_alignment						
NOP2	4839	broad.mit.edu	GRCh37	12	6675301	6675301	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-02-2485-01	TCGA-02-2485-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382421.3:c.440A>C	p.Asp147Ala	p.D147A	ENST00000382421	NM_001258309.1	147	gAc/gCc	0			1			G	D/A	uc001qpk.1	protein_coding		CCDS58203.1			440/2439									ovary(2)	2	c.(439-441)GAC>GCC			hmmpanther:PTHR22807,hmmpanther:PTHR22807:SF30,Low_complexity_(Seg):seg	Homo sapiens cDNA FLJ31646 fis, clone NT2RI2003921, highly similar to PROLIFERATING-CELL NUCLEOLAR ANTIGEN P120.				ENSP00000313272		16-May									COSM3398999	16-May	.		ENST00000322166	Transcript			positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity	ENSG00000111641	g.chr12:6675301T>G	7867			MODERATE		0.255	neutral	getma.org/?cm=msa&ty=f&p=NOP2_HUMAN&rb=1&re=200&var=D147A	NA	getma.org/?cm=var&var=hg19,12,6675301,T,G&fts=all	D147A	--	--	1																																		NOP2_uc009zeq.1_5'Flank|NOP2_uc001qph.1_Missense_Mutation_p.D143A|NOP2_uc001qpi.1_Missense_Mutation_p.D143A|NOP2_uc001qpj.1_Intron|NOP2_uc001qpl.1_Missense_Mutation_p.D147A|NOP2_uc001qpm.1_Missense_Mutation_p.D147A	1			benign(0.004)	p.D147A				tolerated(0.17)	1	NOP2_HUMAN	NOP2	HGNC	P46087	NOP2_HUMAN			F5H709_HUMAN,F5GYR3_HUMAN		4	484	-			UPI00000373D6	147					SNV	NOP2,missense_variant,p.Asp143Ala,ENST00000541778,;NOP2,missense_variant,p.Asp143Ala,ENST00000545200,NM_001258310.1;NOP2,missense_variant,p.Asp147Ala,ENST00000382421,NM_001258309.1;NOP2,missense_variant,p.Asp143Ala,ENST00000399466,NM_001033714.2;NOP2,missense_variant,p.Asp147Ala,ENST00000322166,NM_001258308.1,NM_006170.3;NOP2,missense_variant,p.Asp147Ala,ENST00000537442,;NOP2,missense_variant,p.Asp23Ala,ENST00000542944,;NOP2,missense_variant,p.Asp143Ala,ENST00000542867,;NOP2,missense_variant,p.Asp147Ala,ENST00000536124,;NOP2,missense_variant,p.Asp147Ala,ENST00000545492,;CHD4,downstream_gene_variant,,ENST00000309577,;CHD4,downstream_gene_variant,,ENST00000544484,;CHD4,downstream_gene_variant,,ENST00000544040,;CHD4,downstream_gene_variant,,ENST00000357008,NM_001273.2;NOP2,downstream_gene_variant,,ENST00000540228,;NOP2,downstream_gene_variant,,ENST00000545915,;NOP2,intron_variant,,ENST00000542015,;NOP2,3_prime_UTR_variant,,ENST00000538420,;NOP2,upstream_gene_variant,,ENST00000542919,;NOP2,upstream_gene_variant,,ENST00000536506,;CHD4,downstream_gene_variant,,ENST00000535717,;NOP2,downstream_gene_variant,,ENST00000538697,;NOP2,upstream_gene_variant,,ENST00000400580,;NOP2,downstream_gene_variant,,ENST00000546053,;	uc001qpk.1	c.440A>C	562/2683	3	3			c.440A>C						12	SNP	c.(439-441)GAC>GCC	54	54			ovary(2)	2	Broad	Homo sapiens cDNA FLJ31646 fis, clone NT2RI2003921, highly similar to PROLIFERATING-CELL NUCLEOLAR ANTIGEN P120.			6675301		0.488	ENSG00000111641	10350	g.chr12:6675301T>G	positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity							59.203397	KEEP	9	9	-1	7	11	9	9	-1	59.209753	7	11	0.484848	1	0	0	0	0	1	0	0	0	--	--		0	G			NOP2_uc009zeq.1_5'Flank|NOP2_uc001qph.1_Missense_Mutation_p.D143A|NOP2_uc001qpi.1_Missense_Mutation_p.D143A|NOP2_uc001qpj.1_Intron|NOP2_uc001qpl.1_Missense_Mutation_p.D147A|NOP2_uc001qpm.1_Missense_Mutation_p.D147A	7	GBM-02-2485-TP	p.D147A	T	AGAGTTGGAGTCAGCTCCATA			6675301	P46087	NOP2_HUMAN	0			4	484	-	G	G			Missense_Mutation	147						
NOP56	10528	broad.mit.edu	GRCh37	20	2633552	2633552	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-5412-01	TCGA-06-5412-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329276.5:c.68A>T	p.Glu23Val	p.E23V	ENST00000329276	NM_006392.3	23	gAg/gTg	0			1			T	E/V	uc002wgh.2	protein_coding	YES	CCDS13030.1			68/1785									ovary(1)|pancreas(1)	2	c.(67-69)GAG>GTG			hmmpanther:PTHR10894:SF0,hmmpanther:PTHR10894,Pfam_domain:PF08156	nucleolar protein 5A				ENSP00000370589		12-Feb									COSM3404990,COSM3404991	12-Feb	.		ENST00000329276	Transcript	1		rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	ENSG00000101361	g.chr20:2633552A>T	15911			MODERATE		3.205	medium	getma.org/?cm=msa&ty=f&p=NOP56_HUMAN&rb=4&re=70&var=E23V	NA	getma.org/?cm=var&var=hg19,20,2633552,A,T&fts=all	E23V	--	--	1																																		NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_5'Flank|SNORD110_uc002wgj.2_5'Flank|SNORA51_uc002wgk.1_5'Flank|NOP56_uc002wgm.1_5'Flank	1,1	1		possibly_damaging(0.756)	p.E23V	NM_006392	NP_006383		deleterious(0)	1,1	NOP56_HUMAN	NOP56	HGNC	O00567	NOP56_HUMAN			Q9BSN3_HUMAN		2	121	+			UPI000016A81D	23					SNV	NOP56,missense_variant,p.Glu23Val,ENST00000329276,NM_006392.3;NOP56,missense_variant,p.Glu23Val,ENST00000445139,;NOP56,upstream_gene_variant,,ENST00000415272,;SNORA51,upstream_gene_variant,,ENST00000606420,NR_002981.1;SNORD86,upstream_gene_variant,,ENST00000391196,NR_004399.1;SNORD110,upstream_gene_variant,,ENST00000408189,NR_003078.1;SNORD57,upstream_gene_variant,,ENST00000448188,NR_002738.1;SNORD56,upstream_gene_variant,,ENST00000413522,NR_002739.1;MIR1292,downstream_gene_variant,,ENST00000408135,;NOP56,non_coding_transcript_exon_variant,,ENST00000469588,;NOP56,non_coding_transcript_exon_variant,,ENST00000494697,;NOP56,non_coding_transcript_exon_variant,,ENST00000470143,;NOP56,upstream_gene_variant,,ENST00000492135,;NOP56,upstream_gene_variant,,ENST00000466447,;NOP56,upstream_gene_variant,,ENST00000484998,;NOP56,upstream_gene_variant,,ENST00000480992,;NOP56,upstream_gene_variant,,ENST00000462630,;NOP56,upstream_gene_variant,,ENST00000460258,;NOP56,upstream_gene_variant,,ENST00000467857,;NOP56,upstream_gene_variant,,ENST00000496775,;NOP56,upstream_gene_variant,,ENST00000480447,;NOP56,upstream_gene_variant,,ENST00000490753,;NOP56,upstream_gene_variant,,ENST00000471023,;NOP56,upstream_gene_variant,,ENST00000467196,;	uc002wgh.2	c.68A>T	584/2400	1	1			c.68A>T						20	SNP	c.(67-69)GAG>GTG	11	11			ovary(1)|pancreas(1)	2	Broad	nucleolar protein 5A			2633552		0.677	ENSG00000101361	10351	g.chr20:2633552A>T	rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding							11.387716	KEEP	4	5	-1	20	21	4	5	-1	16.054563	20	21	0.162791	1	0	0	0	0	1	0	0	0	--	--		0	T			NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_5'Flank|SNORD110_uc002wgj.2_5'Flank|SNORA51_uc002wgk.1_5'Flank|NOP56_uc002wgm.1_5'Flank	95	GBM-06-5412-TP	p.E23V	A	AAGGAAGTGGAGGAGATCAGT	NM_006392	NP_006383	2633552	O00567	NOP56_HUMAN	0			2	121	+	T	T			Missense_Mutation	23						
NOS1	4842	broad.mit.edu	GRCh37	12	117718572	117718572	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0174-01	TCGA-06-0174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338101.4:c.1482C>T	p.Asp494=	p.D494=	ENST00000338101		494	gaC/gaT	0	A:0	A:0	1	A:0		A	D	uc001twm.1	protein_coding		CCDS41842.1			1482/4305									ovary(3)|skin(3)|pancreas(1)	7	c.(1480-1482)GAC>GAT			Superfamily_domains:SSF56512,PIRSF_domain:PIRSF000333,Pfam_domain:PF02898,hmmpanther:PTHR19384:SF63,hmmpanther:PTHR19384	nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)	A:0.0089	A:0.0004	ENSP00000320758	A:0	29-Aug	0.000454	0.000102	8.65E-05	0.00522		9.01E-05		0.000122	rs181652902,COSM546820	29-Aug	common_variant		ENST00000317775	Transcript	1	A:0.0018	multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	ENSG00000089250	g.chr12:117718572G>A	7872			LOW								--	--	1																																			0,1				p.D494D	NM_000620	NP_000611	A:0		0,1	NOS1_HUMAN	NOS1	HGNC	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	B3VK56_HUMAN,A0PJJ7_HUMAN		8	2168	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		UPI0000130397	494					SNV	NOS1,synonymous_variant,p.=,ENST00000317775,NM_000620.4,NM_001204218.1;NOS1,synonymous_variant,p.=,ENST00000338101,;NOS1,3_prime_UTR_variant,,ENST00000344089,NM_001204213.1,NM_001204214.1;	uc001twm.1	c.1482C>T	2168/12158	1	1			c.1482C>T						12	SNP	c.(1480-1482)GAC>GAT	64	64			ovary(3)|skin(3)|pancreas(1)	7	Broad	nitric oxide synthase 1, neuronal		L-Citrulline(DB00155)	117718572		0.617	ENSG00000089250	10353	g.chr12:117718572G>A	multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	Esophageal Squamous(162;1748 2599 51982 52956)			Esophageal Squamous(162;1748 2599 51982 52956)			120.066135	KEEP	22	23	-1	27	20	22	23	-1	120.366578	27	20	0.569444	1	0	0	0	0	0	0	1	0	--	--		0	A				37	GBM-06-0174-TP	p.D494D	G	GGGTGGAGCCGTCAGGCTGCT	NM_000620	NP_000611	117718572	P29475	NOS1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(302;0.0561)	8	2168	-	A	A	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		Silent	494						
NOS1	4842	broad.mit.edu	GRCh37	12	117710315	117710315	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01	TCGA-06-5415-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338101.4:c.1714G>A	p.Val572Met	p.V572M	ENST00000338101		572	Gtg/Atg	0			1			T	V/M	uc001twm.1	protein_coding		CCDS41842.1			1714/4305									ovary(3)|skin(3)|pancreas(1)	7	c.(1714-1716)GTG>ATG			Superfamily_domains:SSF56512,PIRSF_domain:PIRSF000333,Pfam_domain:PF02898,Gene3D:3.90.1230.10,hmmpanther:PTHR19384:SF63,hmmpanther:PTHR19384	nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)			ENSP00000320758		29-Oct									COSM935628	29-Oct	.		ENST00000317775	Transcript	1		multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	ENSG00000089250	g.chr12:117710315C>T	7872			MODERATE		3.465	medium	getma.org/?cm=msa&ty=f&p=NOS1_HUMAN&rb=351&re=722&var=V572M	getma.org/pdb.php?prot=NOS1_HUMAN&from=351&to=722&var=V572M	getma.org/?cm=var&var=hg19,12,117710315,C,T&fts=all	V572M	--	--	1																																			1			probably_damaging(0.999)	p.V572M	NM_000620	NP_000611		deleterious(0)	1	NOS1_HUMAN	NOS1	HGNC	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	B3VK56_HUMAN,A0PJJ7_HUMAN		10	2400	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		UPI0000130397	572					SNV	NOS1,missense_variant,p.Val572Met,ENST00000317775,NM_000620.4,NM_001204218.1;NOS1,missense_variant,p.Val572Met,ENST00000338101,;NOS1,3_prime_UTR_variant,,ENST00000344089,NM_001204213.1,NM_001204214.1;	uc001twm.1	c.1714G>A	2400/12158	2	2			c.1714G>A						12	SNP	c.(1714-1716)GTG>ATG	48	48			ovary(3)|skin(3)|pancreas(1)	7	Broad	nitric oxide synthase 1, neuronal		L-Citrulline(DB00155)	117710315		0.617	ENSG00000089250	10353	g.chr12:117710315C>T	multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	Esophageal Squamous(162;1748 2599 51982 52956)			Esophageal Squamous(162;1748 2599 51982 52956)			151.264662	KEEP	34	45	-1	37	41	34	45	-1	151.294011	37	41	0.481132	1	0	0	0	0	1	0	0	0	--	--		0	T				98	GBM-06-5415-TP	p.V572M	C	ATGTTGGACACGGCGGGGAGG	NM_000620	NP_000611	117710315	P29475	NOS1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(302;0.0561)	10	2400	-	T	T	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		Missense_Mutation	572						
NOS1	0	broad.mit.edu	GRCh37	12	117723944	117723944	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01	TCGA-28-5208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317775.6:c.1255C>T	p.Arg419Cys	p.R419C	ENST00000317775	NM_000620.4	419	Cgc/Tgc	0			1			A	R/C	uc001twm.1	protein_coding		CCDS41842.1			1255/4305									ovary(3)|skin(3)|pancreas(1)	7	c.(1255-1257)CGC>TGC			Superfamily_domains:SSF56512,PIRSF_domain:PIRSF000333,Pfam_domain:PF02898,Gene3D:3.90.340.10,PROSITE_patterns:PS60001,hmmpanther:PTHR19384:SF63,hmmpanther:PTHR19384	nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)			ENSP00000320758		29-Jun									COSM3398402	29-Jun	.		ENST00000317775	Transcript	1		multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	ENSG00000089250	g.chr12:117723944G>A	7872			MODERATE		3.78	high	getma.org/?cm=msa&ty=f&p=NOS1_HUMAN&rb=351&re=722&var=R419C	getma.org/pdb.php?prot=NOS1_HUMAN&from=351&to=722&var=R419C	getma.org/?cm=var&var=hg19,12,117723944,G,A&fts=all	R419C	--	--	1																																			1			probably_damaging(0.999)	p.R419C	NM_000620	NP_000611		deleterious(0)	1	NOS1_HUMAN	NOS1	HGNC	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	B3VK56_HUMAN,A0PJJ7_HUMAN		6	1941	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		UPI0000130397	419					SNV	NOS1,missense_variant,p.Arg419Cys,ENST00000317775,NM_000620.4,NM_001204218.1;NOS1,missense_variant,p.Arg419Cys,ENST00000338101,;NOS1,3_prime_UTR_variant,,ENST00000344089,NM_001204213.1,NM_001204214.1;	uc001twm.1	c.1255C>T	1941/12158	1	1			c.1255C>T						12	SNP	c.(1255-1257)CGC>TGC	52	52			ovary(3)|skin(3)|pancreas(1)	7	Broad	nitric oxide synthase 1, neuronal		L-Citrulline(DB00155)	117723944		0.557	ENSG00000089250	10353	g.chr12:117723944G>A	multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	Esophageal Squamous(162;1748 2599 51982 52956)			Esophageal Squamous(162;1748 2599 51982 52956)			199.809511	KEEP	38	36	-1	66	69	38	36	-1	202.556691	66	69	0.371728	1	0	0	0	0	1	0	0	0	--	--		0	A				217	GBM-28-5208-TP	p.R419C	G	CCCACACAGCGCGAGGCATTC	NM_000620	NP_000611	117723944	P29475	NOS1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(302;0.0561)	6	1941	-	A	A	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		Missense_Mutation	419						
NOS1	0	broad.mit.edu	GRCh37	12	117703242	117703242	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4931-01	TCGA-76-4931-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317775.6:c.2015G>A	p.Arg672His	p.R672H	ENST00000317775	NM_000620.4	672	cGc/cAc	0			1			T	R/H	uc001twm.1	protein_coding		CCDS41842.1			2015/4305									ovary(3)|skin(3)|pancreas(1)	7	c.(2014-2016)CGC>CAC			Superfamily_domains:SSF56512,PIRSF_domain:PIRSF000333,Pfam_domain:PF02898,hmmpanther:PTHR19384:SF63,hmmpanther:PTHR19384	nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)			ENSP00000320758		29-Dec	1.65E-05	0.000156	0.000191						rs764344401,COSM2157588	29-Dec	.		ENST00000317775	Transcript	1		multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	ENSG00000089250	g.chr12:117703242C>T	7872			MODERATE		2.445	medium	getma.org/?cm=msa&ty=f&p=NOS1_HUMAN&rb=351&re=722&var=R672H	getma.org/pdb.php?prot=NOS1_HUMAN&from=351&to=722&var=R672H	getma.org/?cm=var&var=hg19,12,117703242,C,T&fts=all	R672H	--	--	1																																			0,1			benign(0.383)	p.R672H	NM_000620	NP_000611		deleterious(0.02)	0,1	NOS1_HUMAN	NOS1	HGNC	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	B3VK56_HUMAN,A0PJJ7_HUMAN		12	2701	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		UPI0000130397	672					SNV	NOS1,missense_variant,p.Arg672His,ENST00000317775,NM_000620.4,NM_001204218.1;NOS1,missense_variant,p.Arg672His,ENST00000338101,;NOS1,3_prime_UTR_variant,,ENST00000344089,NM_001204213.1,NM_001204214.1;	uc001twm.1	c.2015G>A	2701/12158	1	1			c.2015G>A						12	SNP	c.(2014-2016)CGC>CAC	1	1			ovary(3)|skin(3)|pancreas(1)	7	Broad	nitric oxide synthase 1, neuronal		L-Citrulline(DB00155)	117703242		0.602	ENSG00000089250	10353	g.chr12:117703242C>T	multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	Esophageal Squamous(162;1748 2599 51982 52956)			Esophageal Squamous(162;1748 2599 51982 52956)			14.469608	KEEP	4	3	-1	4	8	4	3	-1	14.970111	4	8	0.3125	1	0	0	0	0	1	0	0	0	--	--		0	T				270	GBM-76-4931-TP	p.R672H	C	CCCCCGGCAGCGGTACTCATT	NM_000620	NP_000611	117703242	P29475	NOS1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(302;0.0561)	12	2701	-	T	T	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		Missense_Mutation	672						
NOS1	0	broad.mit.edu	GRCh37	12	117723943	117723943	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01	TCGA-76-6193-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317775.6:c.1256G>A	p.Arg419His	p.R419H	ENST00000317775	NM_000620.4	419	cGc/cAc	0			1			T	R/H	uc001twm.1	protein_coding		CCDS41842.1			1256/4305									ovary(3)|skin(3)|pancreas(1)	7	c.(1255-1257)CGC>CAC			Superfamily_domains:SSF56512,PIRSF_domain:PIRSF000333,Pfam_domain:PF02898,Gene3D:3.90.340.10,PROSITE_patterns:PS60001,hmmpanther:PTHR19384:SF63,hmmpanther:PTHR19384	nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)			ENSP00000320758		29-Jun									COSM3398401	29-Jun	.		ENST00000317775	Transcript	1		multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	ENSG00000089250	g.chr12:117723943C>T	7872			MODERATE		3.43	medium	getma.org/?cm=msa&ty=f&p=NOS1_HUMAN&rb=351&re=722&var=R419H	getma.org/pdb.php?prot=NOS1_HUMAN&from=351&to=722&var=R419H	getma.org/?cm=var&var=hg19,12,117723943,C,T&fts=all	R419H	--	--	1																																			1			probably_damaging(0.991)	p.R419H	NM_000620	NP_000611		deleterious(0)	1	NOS1_HUMAN	NOS1	HGNC	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	B3VK56_HUMAN,A0PJJ7_HUMAN		6	1942	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		UPI0000130397	419					SNV	NOS1,missense_variant,p.Arg419His,ENST00000317775,NM_000620.4,NM_001204218.1;NOS1,missense_variant,p.Arg419His,ENST00000338101,;NOS1,3_prime_UTR_variant,,ENST00000344089,NM_001204213.1,NM_001204214.1;	uc001twm.1	c.1256G>A	1942/12158	1	1			c.1256G>A						12	SNP	c.(1255-1257)CGC>CAC	12	12			ovary(3)|skin(3)|pancreas(1)	7	Broad	nitric oxide synthase 1, neuronal		L-Citrulline(DB00155)	117723943		0.557	ENSG00000089250	10353	g.chr12:117723943C>T	multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	Esophageal Squamous(162;1748 2599 51982 52956)			Esophageal Squamous(162;1748 2599 51982 52956)			27.247847	KEEP	5	9	-1	34	27	5	9	-1	33.717966	34	27	0.185714	1	0	0	0	0	1	0	0	0	--	--		0	T				276	GBM-76-6193-TP	p.R419H	C	GCCCACACAGCGCGAGGCATT	NM_000620	NP_000611	117723943	P29475	NOS1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(302;0.0561)	6	1942	-	T	T	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		Missense_Mutation	419						
NOS1	0	broad.mit.edu	GRCh37	12	117710328	117710328	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6285-01	TCGA-76-6285-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317775.6:c.1701C>T	p.Tyr567=	p.Y567=	ENST00000317775	NM_000620.4	567	taC/taT	0		A:0.0008	1	A:0		A	Y	uc001twm.1	protein_coding		CCDS41842.1			1701/4305									ovary(3)|skin(3)|pancreas(1)	7	c.(1699-1701)TAC>TAT			Superfamily_domains:SSF56512,PIRSF_domain:PIRSF000333,Pfam_domain:PF02898,Gene3D:3.90.1230.10,hmmpanther:PTHR19384:SF63,hmmpanther:PTHR19384	nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)	A:0		ENSP00000320758	A:0	29-Oct	2.47E-05	0.000307							rs569838932,COSM3398400	29-Oct	.		ENST00000317775	Transcript	1	A:0.0002	multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	ENSG00000089250	g.chr12:117710328G>A	7872			LOW								--	--	1																																			0,1				p.Y567Y	NM_000620	NP_000611	A:0		0,1	NOS1_HUMAN	NOS1	HGNC	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	B3VK56_HUMAN,A0PJJ7_HUMAN		10	2387	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		UPI0000130397	567					SNV	NOS1,synonymous_variant,p.=,ENST00000317775,NM_000620.4,NM_001204218.1;NOS1,synonymous_variant,p.=,ENST00000338101,;NOS1,3_prime_UTR_variant,,ENST00000344089,NM_001204213.1,NM_001204214.1;	uc001twm.1	c.1701C>T	2387/12158	1	1			c.1701C>T						12	SNP	c.(1699-1701)TAC>TAT	61	61			ovary(3)|skin(3)|pancreas(1)	7	Broad	nitric oxide synthase 1, neuronal		L-Citrulline(DB00155)	117710328		0.612	ENSG00000089250	10353	g.chr12:117710328G>A	multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	Esophageal Squamous(162;1748 2599 51982 52956)			Esophageal Squamous(162;1748 2599 51982 52956)			62.884309	KEEP	7	19	-1	10	16	7	19	-1	62.884309	10	16	0.5	1	0	0	0	0	0	0	1	0	--	--		0	A				280	GBM-76-6285-TP	p.Y567Y	G	CGGGGAGGCCGTACCACTTCA	NM_000620	NP_000611	117710328	P29475	NOS1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(302;0.0561)	10	2387	-	A	A	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		Silent	567						
NOS1	4842	broad.mit.edu	GRCh37	12	117768967	117768967	+	upstream_gene_variant	5'Flank	SNP	C	C	T			TCGA-02-0055-01	TCGA-02-0055-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.				ENST00000338101				0		T:0	1	T:0		T		uc001twm.1	protein_coding		CCDS41842.1			-/4305									ovary(3)|skin(3)|pancreas(1)	7	c.(-94--90)CCGTG>CCATG				nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)	T:0		ENSP00000320758	T:0	29-Feb									rs566348671	29-Feb	.		ENST00000317775	Transcript	1	T:0.0002	multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	ENSG00000089250	g.chr12:117768967C>T	7872			MODIFIER								--	--	1																																								NM_000620	NP_000611	T:0.001			NOS1_HUMAN	NOS1	HGNC	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	B3VK56_HUMAN,A0PJJ7_HUMAN		2	594	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		UPI0000130397						SNV	NOS1,5_prime_UTR_variant,,ENST00000317775,NM_000620.4,NM_001204218.1;NOS1,5_prime_UTR_variant,,ENST00000344089,NM_001204213.1,NM_001204214.1;NOS1,upstream_gene_variant,,ENST00000338101,;NOS1,downstream_gene_variant,,ENST00000549189,;	uc001twm.1	c.-92G>A	594/12158	1	1			c.-92G>A						12	SNP	c.(-94--90)CCGTG>CCATG	11	11			ovary(3)|skin(3)|pancreas(1)	7	Broad	nitric oxide synthase 1, neuronal		L-Citrulline(DB00155)	117768967		0.582	ENSG00000089250	10353	g.chr12:117768967C>T	multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	Esophageal Squamous(162;1748 2599 51982 52956)			Esophageal Squamous(162;1748 2599 51982 52956)			4.542731	KEEP	4	1	-1	17	27	4	1	-1	12.022885	17	27	0.104167	1	0	0	0	0	0	0	0	0	--	--		0	T				4	GBM-02-0055-TP		C	TCAGGCTACACGGAGAGCAGG	NM_000620	NP_000611	117768967	P29475	NOS1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(302;0.0561)	2	594	-	T	T	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		Translation_Start_Site							
NOS1	4842		GRCh37	12	117669899	117669899	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000338101.4:c.3375G>A	p.Pro1125=	p.P1125=	ENST00000338101		1125	ccG/ccA	0																																																																																																																																																																																																																																												
NOS1AP	0	broad.mit.edu	GRCh37	1	162257211	162257213	+	inframe_deletion	In_Frame_Del	DEL	GAA	GAA	-			TCGA-19-2629-01	TCGA-19-2629-01	GAA	GAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361897.5:c.264_266delGAA	p.Lys90del	p.K90del	ENST00000361897	NM_014697.2	85	ctGAAg/ctg	0			1			-	LK/L	uc001gbv.2	protein_coding	YES	CCDS1237.1			255-257/1521									lung(2)|upper_aerodigestive_tract(1)	3	c.(253-258)CTGAAG>CTG			Gene3D:2.30.29.30,Pfam_domain:PF00640,PROSITE_profiles:PS01179,hmmpanther:PTHR11232,hmmpanther:PTHR11232:SF39,Low_complexity_(Seg):seg,SMART_domains:SM00462,Superfamily_domains:SSF50729	nitric oxide synthase 1 (neuronal) adaptor				ENSP00000355133		10-Mar	1.65E-05					3.00E-05			rs530021849,COSM2156327,COSM2156326	10-Mar	.		ENST00000361897	Transcript	1		regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	ENSG00000198929	g.chr1:162257211_162257213delGAA	16859	9		MODERATE								--	--	1																																		NOS1AP_uc010pkr.1_In_Frame_Del_p.K92del|NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_In_Frame_Del_p.K92del	0,1,1	1			p.K90del	NM_014697	NP_055512			0,1,1	CAPON_HUMAN	NOS1AP	HGNC	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		H7BY61_HUMAN,E9PIP8_HUMAN		3	642_644	+	all_hematologic(112;0.203)		UPI000019C573	90			PID.		deletion	NOS1AP,inframe_deletion,p.Lys90del,ENST00000361897,NM_014697.2,NM_001164757.1;NOS1AP,inframe_deletion,p.Lys92del,ENST00000530878,;NOS1AP,inframe_deletion,p.Lys92del,ENST00000430120,;	uc001gbv.2	c.255_257delGAA	657-659/4931	5	5			c.255_257delGAA						1	DEL	c.(253-258)CTGAAG>CTG	33	33			lung(2)|upper_aerodigestive_tract(1)	3	Broad	nitric oxide synthase 1 (neuronal) adaptor			162257213		0.433	ENSG00000198929	10354	g.chr1:162257211_162257213delGAA	regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding																				0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			NOS1AP_uc010pkr.1_In_Frame_Del_p.K92del|NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_In_Frame_Del_p.K92del	166	GBM-19-2629-TP	p.K90del	GAA	AAGTGATTCTGAAGAAGAAGAAA	NM_014697	NP_055512	162257211	O75052	CAPON_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.0537)		3	642_644	+	-	-	all_hematologic(112;0.203)		In_Frame_Del	90			PID.			
NOS2	4843	broad.mit.edu	GRCh37	17	26116655	26116655	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313735.6:c.170C>T	p.Pro57Leu	p.P57L	ENST00000313735	NM_000625.4	57	cCg/cTg	0	A:0		1			A	P/L	uc002gzu.2	protein_coding	YES	CCDS11223.1			170/3462									skin(2)|ovary(1)|breast(1)	4	c.(169-171)CCG>CTG			PIRSF_domain:PIRSF000333	nitric oxide synthase 2A	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)		A:0.0001	ENSP00000327251		27-Mar	4.12E-05		8.64E-05			6.00E-05			rs375397175,COSM3402681	27-Mar	.		ENST00000313735	Transcript	1		arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	ENSG00000007171	g.chr17:26116655G>A	7873			MODERATE		0.6	neutral	getma.org/?cm=msa&ty=f&p=NOS2_HUMAN&rb=1&re=79&var=P57L	NA	getma.org/?cm=var&var=hg19,17,26116655,G,A&fts=all	P57L	--	--	1																																		NOS2_uc010crh.1_Missense_Mutation_p.P57L|NOS2_uc010wab.1_Missense_Mutation_p.P57L	0,1	1		benign(0.002)	p.P57L	NM_000625	NP_000616		tolerated(0.21)	0,1	NOS2_HUMAN	NOS2	HGNC	P35228	NOS2_HUMAN			Q9UM94_HUMAN		3	434	-			UPI000011D645	57					SNV	NOS2,missense_variant,p.Pro57Leu,ENST00000313735,NM_000625.4;	uc002gzu.2	c.170C>T	404/4176	2	2			c.170C>T						17	SNP	c.(169-171)CCG>CTG	44	44			skin(2)|ovary(1)|breast(1)	4	Broad	nitric oxide synthase 2A		Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	26116655		0.537	ENSG00000007171	10355	g.chr17:26116655G>A	arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			578			578	418.155644	KEEP	82	62	-1	17	18	82	62	-1	429.351057	17	18	0.785235	1	0	0	0	0	1	0	0	0	--	--		0	A			NOS2_uc010crh.1_Missense_Mutation_p.P57L|NOS2_uc010wab.1_Missense_Mutation_p.P57L	102	GBM-06-5858-TP	p.P57L	G	GAGGGGCTGCGGGGACTCATT	NM_000625	NP_000616	26116655	P35228	NOS2_HUMAN	0			3	434	-	A	A			Missense_Mutation	57						
NOS2	4843		GRCh37	17	26094858	26094858	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000313735.6:c.2040C>T	p.Ala680=	p.A680=	ENST00000313735	NM_000625.4	680	gcC/gcT	0																																																																																																																																																																																																																																												
NOS3	4846	broad.mit.edu	GRCh37	7	150699008	150699008	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-02-2486-01	TCGA-02-2486-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297494.3:c.1602C>T	p.Tyr534=	p.Y534=	ENST00000297494	NM_000603.4	534	taC/taT	0	T:0		1			T	Y	uc003wif.2	protein_coding	YES	CCDS5912.1			1602/3612									central_nervous_system(5)|large_intestine(2)|skin(1)	8	c.(1600-1602)TAC>TAT			PROSITE_profiles:PS50902,hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF66,Gene3D:3.40.50.360,Pfam_domain:PF00258,PIRSF_domain:PIRSF000333,Superfamily_domains:SSF52218,Prints_domain:PR00369	nitric oxide synthase 3 isoform 1	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)		T:0.0005	ENSP00000297494		13/27	0.000313		0.00026			0.000458	0.00112	0.000242	rs370755105,COSM3411804	13/27	common_variant		ENST00000297494	Transcript	1		anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	ENSG00000164867	g.chr7:150699008C>T	7876			LOW								--	--	1																																		NOS3_uc011kuy.1_Silent_p.Y328Y|NOS3_uc011kuz.1_Silent_p.Y534Y|NOS3_uc011kva.1_Silent_p.Y534Y|NOS3_uc011kvb.1_Silent_p.Y534Y	0,1	1			p.Y534Y	NM_000603	NP_000594			0,1	NOS3_HUMAN	NOS3	HGNC	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Q96P37_HUMAN,Q96J98_HUMAN,O14937_HUMAN,E7ESA7_HUMAN		13	1898	+	all_neural(206;0.219)		UPI000013E417	534			Flavodoxin-like.		SNV	NOS3,synonymous_variant,p.=,ENST00000297494,NM_000603.4;NOS3,synonymous_variant,p.=,ENST00000461406,;NOS3,synonymous_variant,p.=,ENST00000484524,NM_001160111.1;NOS3,synonymous_variant,p.=,ENST00000467517,NM_001160110.1,NM_001160109.1;NOS3,non_coding_transcript_exon_variant,,ENST00000460603,;	uc003wif.2	c.1602C>T	1959/4388	2	2			c.1602C>T						7	SNP	c.(1600-1602)TAC>TAT	20	20			central_nervous_system(5)|large_intestine(2)|skin(1)	8	Broad	nitric oxide synthase 3 isoform 1		L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	150699008		0.637	ENSG00000164867	10356	g.chr7:150699008C>T	anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding		p.Y534Y(SKMEL1-Tumor)	755		p.Y534Y(SKMEL1-Tumor)	755	138.090377	KEEP	30	30	-1	60	85	30	30	-1	143.944073	60	85	0.306818	1	0	0	0	0	0	0	1	0	--	--		0	T			NOS3_uc011kuy.1_Silent_p.Y328Y|NOS3_uc011kuz.1_Silent_p.Y534Y|NOS3_uc011kva.1_Silent_p.Y534Y|NOS3_uc011kvb.1_Silent_p.Y534Y	8	GBM-02-2486-TP	p.Y534Y	C	CCCAGAGCTACGCACAGCAGC	NM_000603	NP_000594	150699008	P29474	NOS3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	13	1898	+	T	T	all_neural(206;0.219)		Silent	534			Flavodoxin-like.			
NOS3	4846	broad.mit.edu	GRCh37	7	150703990	150703990	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0171-01	TCGA-06-0171-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297494.3:c.1834C>T	p.Arg612Cys	p.R612C	ENST00000297494	NM_000603.4	612	Cgc/Tgc	0			1			T	R/C	uc003wif.2	protein_coding	YES	CCDS5912.1			1834/3612									central_nervous_system(5)|large_intestine(2)|skin(1)	8	c.(1834-1836)CGC>TGC			PROSITE_profiles:PS50902,hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF66,Pfam_domain:PF00258,PIRSF_domain:PIRSF000333,Superfamily_domains:SSF52218	nitric oxide synthase 3 isoform 1	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)			ENSP00000297494		16/27	8.24E-06				0.000151				rs768430429,COSM3394611	16/27	.		ENST00000297494	Transcript	1		anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	ENSG00000164867	g.chr7:150703990C>T	7876			MODERATE		2.43	medium	getma.org/?cm=msa&ty=f&p=NOS3_HUMAN&rb=522&re=698&var=R612C	getma.org/pdb.php?prot=NOS3_HUMAN&from=522&to=698&var=R612C	getma.org/?cm=var&var=hg19,7,150703990,C,T&fts=all	R612C	--	--	1																																		NOS3_uc011kuy.1_Missense_Mutation_p.R406C	0,1	1		probably_damaging(0.998)	p.R612C	NM_000603	NP_000594		deleterious(0)	0,1	NOS3_HUMAN	NOS3	HGNC	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Q96P37_HUMAN,Q96J98_HUMAN,O14937_HUMAN,E7ESA7_HUMAN		16	2130	+	all_neural(206;0.219)		UPI000013E417	612			Flavodoxin-like.		SNV	NOS3,missense_variant,p.Arg612Cys,ENST00000297494,NM_000603.4;NOS3,missense_variant,p.Arg406Cys,ENST00000461406,;NOS3,downstream_gene_variant,,ENST00000484524,NM_001160111.1;NOS3,downstream_gene_variant,,ENST00000467517,NM_001160110.1,NM_001160109.1;NOS3,upstream_gene_variant,,ENST00000475017,;NOS3,upstream_gene_variant,,ENST00000477227,;NOS3,upstream_gene_variant,,ENST00000468293,;NOS3,upstream_gene_variant,,ENST00000473057,;NOS3,downstream_gene_variant,,ENST00000460603,;	uc003wif.2	c.1834C>T	2191/4388	2	2			c.1834C>T						7	SNP	c.(1834-1836)CGC>TGC	28	28			central_nervous_system(5)|large_intestine(2)|skin(1)	8	Broad	nitric oxide synthase 3 isoform 1		L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	150703990		0.607	ENSG00000164867	10356	g.chr7:150703990C>T	anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			755			755	25.608252	KEEP	12	9	-1	88	82	12	9	-1	49.927283	88	82	0.114458	1	0	0	0	0	1	0	0	0	--	--		0	T			NOS3_uc011kuy.1_Missense_Mutation_p.R406C	35	GBM-06-0171-TP	p.R612C	C	TTATAAGATCCGCTTCAACAG	NM_000603	NP_000594	150703990	P29474	NOS3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	16	2130	+	T	T	all_neural(206;0.219)		Missense_Mutation	612			Flavodoxin-like.			
NOS3	4846	broad.mit.edu	GRCh37	7	150699051	150699051	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs142781987		TCGA-06-0174-01	TCGA-06-0174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297494.3:c.1645C>T	p.Arg549Trp	p.R549W	ENST00000297494	NM_000603.4	549	Cgg/Tgg	0	T:0		1			T	R/W	uc003wif.2	protein_coding	YES	CCDS5912.1			1645/3612									central_nervous_system(5)|large_intestine(2)|skin(1)	8	c.(1645-1647)CGG>TGG			PROSITE_profiles:PS50902,hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF66,Gene3D:3.40.50.360,Pfam_domain:PF00258,PIRSF_domain:PIRSF000333,Superfamily_domains:SSF52218	nitric oxide synthase 3 isoform 1	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)		T:0.0001	ENSP00000297494		13/27	1.65E-05					3.09E-05			rs142781987,COSM3261147	13/27	.		ENST00000297494	Transcript	1		anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	ENSG00000164867	g.chr7:150699051C>T	7876			MODERATE		2.695	medium	getma.org/?cm=msa&ty=f&p=NOS3_HUMAN&rb=522&re=698&var=R549W	getma.org/pdb.php?prot=NOS3_HUMAN&from=522&to=698&var=R549W	getma.org/?cm=var&var=hg19,7,150699051,C,T&fts=all	R549W	--	--	1																																		NOS3_uc011kuy.1_Missense_Mutation_p.R343W|NOS3_uc011kuz.1_Missense_Mutation_p.R549W|NOS3_uc011kva.1_Missense_Mutation_p.R549W|NOS3_uc011kvb.1_Missense_Mutation_p.R549W	0,1	1		possibly_damaging(0.788)	p.R549W	NM_000603	NP_000594		deleterious(0)	0,1	NOS3_HUMAN	NOS3	HGNC	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Q96P37_HUMAN,Q96J98_HUMAN,O14937_HUMAN,E7ESA7_HUMAN		13	1941	+	all_neural(206;0.219)		UPI000013E417	549			Flavodoxin-like.		SNV	NOS3,missense_variant,p.Arg549Trp,ENST00000297494,NM_000603.4;NOS3,missense_variant,p.Arg343Trp,ENST00000461406,;NOS3,missense_variant,p.Arg549Trp,ENST00000484524,NM_001160111.1;NOS3,missense_variant,p.Arg549Trp,ENST00000467517,NM_001160110.1,NM_001160109.1;NOS3,splice_region_variant,,ENST00000460603,;	uc003wif.2	c.1645C>T	2002/4388	2	2			c.1645C>T						7	SNP	c.(1645-1647)CGG>TGG	32	32			central_nervous_system(5)|large_intestine(2)|skin(1)	8	Broad	nitric oxide synthase 3 isoform 1		L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	150699051		0.612	ENSG00000164867	10356	g.chr7:150699051C>T	anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			755			755	233.017431	KEEP	37	56	-1	87	86	37	56	-1	237.494794	87	86	0.348416	1	0	0	0	0	1	0	0	0	--	--		0	T			NOS3_uc011kuy.1_Missense_Mutation_p.R343W|NOS3_uc011kuz.1_Missense_Mutation_p.R549W|NOS3_uc011kva.1_Missense_Mutation_p.R549W|NOS3_uc011kvb.1_Missense_Mutation_p.R549W	37	GBM-06-0174-TP	p.R549W	C	TTTTGATCCCCGGGTAGGGCT	NM_000603	NP_000594	150699051	P29474	NOS3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	13	1941	+	T	T	all_neural(206;0.219)		Missense_Mutation	549			Flavodoxin-like.			
NOS3	0	broad.mit.edu	GRCh37	7	150703567	150703567	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs145168353	byFrequency	TCGA-14-0817-01	TCGA-14-0817-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297494.3:c.1805G>A	p.Arg602Gln	p.R602Q	ENST00000297494	NM_000603.4	602	cGg/cAg	0	A:0.0005	A:0	1	A:0		A	R/Q	uc003wif.2	protein_coding	YES	CCDS5912.1			1805/3612								p.R602Q(1)	central_nervous_system(5)|large_intestine(2)|skin(1)	8	c.(1804-1806)CGG>CAG			PROSITE_profiles:PS50902,hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF66,Pfam_domain:PF00258,PIRSF_domain:PIRSF000333,Superfamily_domains:SSF52218	nitric oxide synthase 3 isoform 1	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	A:0.001	A:0	ENSP00000297494	A:0	15/27	4.12E-05	0.000194		0.00035					rs145168353,COSM32897	15/27	.		ENST00000297494	Transcript	1	A:0.0002	anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	ENSG00000164867	g.chr7:150703567G>A	7876			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=NOS3_HUMAN&rb=522&re=698&var=R602Q	getma.org/pdb.php?prot=NOS3_HUMAN&from=522&to=698&var=R602Q	getma.org/?cm=var&var=hg19,7,150703567,G,A&fts=all	R602Q	--	--	1																																		NOS3_uc011kuy.1_Missense_Mutation_p.R396Q	0,1	1		benign(0.004)	p.R602Q	NM_000603	NP_000594	A:0	tolerated(0.52)	0,1	NOS3_HUMAN	NOS3	HGNC	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Q96P37_HUMAN,Q96J98_HUMAN,O14937_HUMAN,E7ESA7_HUMAN		15	2101	+	all_neural(206;0.219)		UPI000013E417	602		R -> Q (in a colorectal cancer sample; somatic mutation).	Flavodoxin-like.		SNV	NOS3,missense_variant,p.Arg602Gln,ENST00000297494,NM_000603.4;NOS3,missense_variant,p.Arg396Gln,ENST00000461406,;NOS3,downstream_gene_variant,,ENST00000484524,NM_001160111.1;NOS3,downstream_gene_variant,,ENST00000467517,NM_001160110.1,NM_001160109.1;NOS3,upstream_gene_variant,,ENST00000475017,;NOS3,upstream_gene_variant,,ENST00000477227,;NOS3,upstream_gene_variant,,ENST00000468293,;NOS3,upstream_gene_variant,,ENST00000473057,;NOS3,downstream_gene_variant,,ENST00000460603,;	uc003wif.2	c.1805G>A	2162/4388	2	2			c.1805G>A						7	SNP	c.(1804-1806)CGG>CAG	32	32		p.R602Q(1)	central_nervous_system(5)|large_intestine(2)|skin(1)	8	Broad	nitric oxide synthase 3 isoform 1		L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	150703567		0.542	ENSG00000164867	10356	g.chr7:150703567G>A	anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding		p.R602Q(TCCPAN2-Tumor)	755		p.R602Q(TCCPAN2-Tumor)	755	-77.148476	KEEP	6	5	-1	200	220	6	5	-1	20.278861	200	220	0.025575	1	0	0	0	0	1	0	0	0	--	--		0	A			NOS3_uc011kuy.1_Missense_Mutation_p.R396Q	139	GBM-14-0817-TP	p.R602Q	G	AGCTCCCCTCGGCCGGAACAG	NM_000603	NP_000594	150703567	P29474	NOS3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	15	2101	+	A	A	all_neural(206;0.219)		Missense_Mutation	602		R -> Q (in a colorectal cancer sample; somatic mutation).	Flavodoxin-like.			
NOS3	0	broad.mit.edu	GRCh37	7	150695737	150695737	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5960-01	TCGA-19-5960-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297494.3:c.785G>A	p.Arg262Gln	p.R262Q	ENST00000297494	NM_000603.4	262	cGg/cAg	0			1			A	R/Q	uc003wif.2	protein_coding	YES	CCDS5912.1			785/3612									central_nervous_system(5)|large_intestine(2)|skin(1)	8	c.(784-786)CGG>CAG			hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF66,Pfam_domain:PF02898,PIRSF_domain:PIRSF000333,Superfamily_domains:SSF56512	nitric oxide synthase 3 isoform 1	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)			ENSP00000297494		27-Jul	1.67E-05	0.000148		0.000152					rs750247122,COSM3411803	27-Jul	.		ENST00000297494	Transcript	1		anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	ENSG00000164867	g.chr7:150695737G>A	7876			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=NOS3_HUMAN&rb=115&re=486&var=R262Q	getma.org/pdb.php?prot=NOS3_HUMAN&from=115&to=486&var=R262Q	getma.org/?cm=var&var=hg19,7,150695737,G,A&fts=all	R262Q	--	--	1																																		NOS3_uc011kuy.1_Missense_Mutation_p.R56Q|NOS3_uc011kuz.1_Missense_Mutation_p.R262Q|NOS3_uc011kva.1_Missense_Mutation_p.R262Q|NOS3_uc011kvb.1_Missense_Mutation_p.R262Q	0,1	1		benign(0.003)	p.R262Q	NM_000603	NP_000594		tolerated(0.05)	0,1	NOS3_HUMAN	NOS3	HGNC	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Q96P37_HUMAN,Q96J98_HUMAN,O14937_HUMAN,E7ESA7_HUMAN		7	1081	+	all_neural(206;0.219)		UPI000013E417	262			Interaction with NOSIP.		SNV	NOS3,missense_variant,p.Arg262Gln,ENST00000297494,NM_000603.4;NOS3,missense_variant,p.Arg56Gln,ENST00000461406,;NOS3,missense_variant,p.Arg262Gln,ENST00000484524,NM_001160111.1;NOS3,missense_variant,p.Arg262Gln,ENST00000467517,NM_001160110.1,NM_001160109.1;NOS3,upstream_gene_variant,,ENST00000460603,;	uc003wif.2	c.785G>A	1142/4388	2	2			c.785G>A						7	SNP	c.(784-786)CGG>CAG	46	46			central_nervous_system(5)|large_intestine(2)|skin(1)	8	Broad	nitric oxide synthase 3 isoform 1		L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	150695737		0.652	ENSG00000164867	10356	g.chr7:150695737G>A	anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			755			755	21.422301	KEEP	2	5	-1	6	9	2	5	-1	21.710519	6	9	0.368421	1	0	0	0	0	1	0	0	0	--	--		0	A			NOS3_uc011kuy.1_Missense_Mutation_p.R56Q|NOS3_uc011kuz.1_Missense_Mutation_p.R262Q|NOS3_uc011kva.1_Missense_Mutation_p.R262Q|NOS3_uc011kvb.1_Missense_Mutation_p.R262Q	178	GBM-19-5960-TP	p.R262Q	G	GGCTCTGTGCGGGGGGACCCA	NM_000603	NP_000594	150695737	P29474	NOS3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	7	1081	+	A	A	all_neural(206;0.219)		Missense_Mutation	262			Interaction with NOSIP.			
NOSIP	51070		GRCh37	19	50059597	50059597	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000391853.3:c.811C>T	p.Arg271Cys	p.R271C	ENST00000391853	NM_015953.4	271	Cgc/Tgc	0																																																																																																																																																																																																																																												
NOTCH2	0	broad.mit.edu	GRCh37	1	120539904	120539904	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-12-0688-01	TCGA-12-0688-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256646.2:c.467delG	p.Gly156GlufsTer240	p.G156Efs*240	ENST00000256646	NM_024408.3	156	gGa/ga	0			1			-	G/X	uc001eik.2	protein_coding	YES	CCDS908.1			467/7416	N|F|Mis				marginal zone lymphoma|DLBCL				lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	c.(466-468)GGAfs			Gene3D:2gy5A03,PIRSF_domain:PIRSF002279,PROSITE_profiles:PS50026,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF4,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196	notch 2 preproprotein				ENSP00000256646		Apr-34									COSM2153915,COSM2153916	Apr-34	.	Alagille_Syndrome	ENST00000256646	Transcript	1		anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	ENSG00000134250	g.chr1:120539904delC	7882			HIGH								--	--	1																																		NOTCH2_uc001eil.2_Frame_Shift_Del_p.G156fs|NOTCH2_uc001eim.3_Frame_Shift_Del_p.G73fs	1,1	1			p.G156fs	NM_024408	NP_077719			1,1	NOTC2_HUMAN	NOTCH2	HGNC	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	Q9UFD5_HUMAN,Q13560_HUMAN		4	723	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	UPI000013CF1D	156			Extracellular (Potential).|EGF-like 4.		deletion	NOTCH2,frameshift_variant,p.Gly156GlufsTer240,ENST00000256646,NM_024408.3;NOTCH2,frameshift_variant,p.Gly117GlufsTer98,ENST00000602566,;NOTCH2,non_coding_transcript_exon_variant,,ENST00000479412,;	uc001eik.2	c.467delG	687/11389	5	5			c.467delG	N|F|Mis				marginal zone lymphoma|DLBCL	1	DEL	c.(466-468)GGAfs	65	65			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	Broad	notch 2 preproprotein			120539904	Alagille_Syndrome	0.488	ENSG00000134250	10360	g.chr1:120539904delC	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			581			581														0.36	1	1	0	1	0	0	0	0	0	--	--		0	-			NOTCH2_uc001eil.2_Frame_Shift_Del_p.G156fs|NOTCH2_uc001eim.3_Frame_Shift_Del_p.G73fs	121	GBM-12-0688-TP	p.G156fs	C	ACAGGTACTTCCATTTGCACA	NM_024408	NP_077719	120539904	Q04721	NOTC2_HUMAN	0		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	723	-	-	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	Frame_Shift_Del	156			Extracellular (Potential).|EGF-like 4.			
NOTCH2	0	broad.mit.edu	GRCh37	1	120464949	120464949	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256646.2:c.5123C>G	p.Ser1708Cys	p.S1708C	ENST00000256646	NM_024408.3	1708	tCt/tGt	0			1			C	S/C	uc001eik.2	protein_coding	YES	CCDS908.1			5123/7416	N|F|Mis				marginal zone lymphoma|DLBCL				lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	c.(5122-5124)TCT>TGT			PIRSF_domain:PIRSF002279,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF4	notch 2 preproprotein				ENSP00000256646		28/34									COSM3399611	28/34	.	Alagille_Syndrome	ENST00000256646	Transcript	1		anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	ENSG00000134250	g.chr1:120464949G>C	7882			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=NOTC2_HUMAN&rb=1678&re=1849&var=S1708C	NA	getma.org/?cm=var&var=hg19,1,120464949,G,C&fts=all	S1708C	--	--	1																																			1	1		possibly_damaging(0.471)	p.S1708C	NM_024408	NP_077719		tolerated(0.18)	1	NOTC2_HUMAN	NOTCH2	HGNC	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	Q9UFD5_HUMAN,Q13560_HUMAN		28	5379	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	UPI000013CF1D	1708			Cytoplasmic (Potential).		SNV	NOTCH2,missense_variant,p.Ser1708Cys,ENST00000256646,NM_024408.3;NOTCH2,downstream_gene_variant,,ENST00000493703,;	uc001eik.2	c.5123C>G	5343/11389	3	3			c.5123C>G	N|F|Mis				marginal zone lymphoma|DLBCL	1	SNP	c.(5122-5124)TCT>TGT	2	2			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	Broad	notch 2 preproprotein			120464949	Alagille_Syndrome	0.512	ENSG00000134250	10360	g.chr1:120464949G>C	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			581			581	70.661522	KEEP	9	14	-1	31	28	9	14	-1	73.602886	31	28	0.287671	1	0	0	0	0	1	0	0	0	--	--		0	C				240	GBM-32-2632-TP	p.S1708C	G	CAGCCAGAGAGAGCCATGCTT	NM_024408	NP_077719	120464949	Q04721	NOTC2_HUMAN	0		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	28	5379	-	C	C	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	Missense_Mutation	1708			Cytoplasmic (Potential).			
NOTCH2	4853		GRCh37	1	120512133	120512133	+	splice_donor_variant	Splice_Site	SNP	C	C	T			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000256646.2:c.1108+1G>A		p.X370_splice	ENST00000256646	NM_024408.3	370		0																																																																																																																																																																																																																																												
NOTCH2	4853		GRCh37	1	120512286	120512286	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000256646.2:c.956A>G	p.Asn319Ser	p.N319S	ENST00000256646	NM_024408.3	319	aAt/aGt	0																																																																																																																																																																																																																																												
NOTCH3	4854	broad.mit.edu	GRCh37	19	15298114	15298114	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0238-01	TCGA-06-0238-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263388.2:c.1642G>A	p.Asp548Asn	p.D548N	ENST00000263388	NM_000435.2	548	Gac/Aac	0			1			T	D/N	uc002nan.2	protein_coding	YES	CCDS12326.1			1642/6966									lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21	c.(1642-1644)GAC>AAC			Gene3D:2.10.25.10,PIRSF_domain:PIRSF002279,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF47,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196	Notch homolog 3 precursor				ENSP00000263388		Nov-33									COSM2151074,COSM2151075	Nov-33	.		ENST00000263388	Transcript	1		Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	ENSG00000074181	g.chr19:15298114C>T	7883			MODERATE		1.855	low	getma.org/?cm=msa&ty=f&p=NOTC3_HUMAN&rb=545&re=580&var=D548N	getma.org/pdb.php?prot=NOTC3_HUMAN&from=545&to=580&var=D548N	getma.org/?cm=var&var=hg19,19,15298114,C,T&fts=all	D548N	--	--	1																																		NOTCH3_uc002nao.1_Missense_Mutation_p.D548N	1,1	1		benign(0.109)	p.D548N	NM_000435	NP_000426		tolerated(0.26)	1,1	NOTC3_HUMAN	NOTCH3	HGNC	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)				11	1718	-			UPI000013D3FA	548			Extracellular (Potential).|EGF-like 14; calcium-binding (Potential).		SNV	NOTCH3,missense_variant,p.Asp548Asn,ENST00000263388,NM_000435.2;NOTCH3,missense_variant,p.Asp547Asn,ENST00000601011,;	uc002nan.2	c.1642G>A	1718/8071	1	1			c.1642G>A						19	SNP	c.(1642-1644)GAC>AAC	1	1			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21	Broad	Notch homolog 3 precursor			15298114		0.657	ENSG00000074181	10362	g.chr19:15298114C>T	Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			417			417	69.57991	KEEP	12	17	-1	27	31	12	17	-1	71.869827	27	31	0.315789	1	0	0	0	0	1	0	0	0	--	--		0	T			NOTCH3_uc002nao.1_Missense_Mutation_p.D548N	55	GBM-06-0238-TP	p.D548N	C	GGGGAGCAGTCGTCCACGTTG	NM_000435	NP_000426	15298114	Q9UM47	NOTC3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		11	1718	-	T	T			Missense_Mutation	548			Extracellular (Potential).|EGF-like 14; calcium-binding (Potential).			
NOTCH3	0	broad.mit.edu	GRCh37	19	15272328	15272328	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-1450-01	TCGA-14-1450-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263388.2:c.6111C>T	p.His2037=	p.H2037=	ENST00000263388	NM_000435.2	2037	caC/caT	0			1			A	H	uc002nan.2	protein_coding	YES	CCDS12326.1			6111/6966									lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21	c.(6109-6111)CAC>CAT			PIRSF_domain:PIRSF002279,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF47,Low_complexity_(Seg):seg	Notch homolog 3 precursor				ENSP00000263388		33/33	1.66E-05					4.67E-05			rs764620593,COSM3403848,COSM3403849	33/33	.		ENST00000263388	Transcript	1		Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	ENSG00000074181	g.chr19:15272328G>A	7883			LOW								--	--	1																																			0,1,1	1			p.H2037H	NM_000435	NP_000426			0,1,1	NOTC3_HUMAN	NOTCH3	HGNC	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)				33	6187	-			UPI000013D3FA	2037			Cytoplasmic (Potential).		SNV	NOTCH3,synonymous_variant,p.=,ENST00000263388,NM_000435.2;NOTCH3,downstream_gene_variant,,ENST00000597756,;NOTCH3,downstream_gene_variant,,ENST00000595514,;	uc002nan.2	c.6111C>T	6187/8071	1	1			c.6111C>T						19	SNP	c.(6109-6111)CAC>CAT	55	55			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21	Broad	Notch homolog 3 precursor			15272328		0.682	ENSG00000074181	10362	g.chr19:15272328G>A	Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			417			417	7.589246	KEEP	3	2	-1	10	9	3	2	-1	9.469324	10	9	0.190476	1	0	0	0	0	0	0	1	0	--	--		0	A				145	GBM-14-1450-TP	p.H2037H	G	GCCCCAGGCCGTGGGGACCGG	NM_000435	NP_000426	15272328	Q9UM47	NOTC3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		33	6187	-	A	A			Silent	2037			Cytoplasmic (Potential).			
NOTCH3	4854		GRCh37	19	15289676	15289676	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000263388.2:c.3795G>A	p.Pro1265=	p.P1265=	ENST00000263388	NM_000435.2	1265	ccG/ccA	0																																																																																																																																																																																																																																												
NOTCH4	0	broad.mit.edu	GRCh37	6	32172007	32172007	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01	TCGA-28-5208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375023.3:c.3025G>A	p.Glu1009Lys	p.E1009K	ENST00000375023	NM_004557.3	1009	Gag/Aag	0			1			T	E/K	uc003obb.2	protein_coding	YES	CCDS34420.1			3025/6012									lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22	c.(3025-3027)GAG>AAG			PROSITE_profiles:PS50026,hmmpanther:PTHR24033,Gene3D:2gy5A03,SMART_domains:SM00181,PIRSF_domain:PIRSF002279,SMART_domains:SM00179,Superfamily_domains:SSF57184	notch4 preproprotein				ENSP00000364163		19/30									COSM3410980	19/30	.		ENST00000375023	Transcript			cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	ENSG00000204301	g.chr6:32172007C>T	7884			MODERATE		3.33	medium	getma.org/?cm=msa&ty=f&p=NOTC4_HUMAN&rb=1006&re=1044&var=E1009K	NA	getma.org/?cm=var&var=hg19,6,32172007,C,T&fts=all	E1009K	3.255	medium	1																																		NOTCH4_uc003oba.2_5'Flank|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	1	1		probably_damaging(0.994)	p.E1009K	NM_004557	NP_004548		deleterious(0)	1	NOTC4_HUMAN	NOTCH4	HGNC	Q99466	NOTC4_HUMAN					19	3164	-			UPI0000130571	1009			Extracellular (Potential).|EGF-like 26.		SNV	NOTCH4,missense_variant,p.Glu1009Lys,ENST00000375023,NM_004557.3;NOTCH4,upstream_gene_variant,,ENST00000474612,;	uc003obb.2	c.3025G>A	3164/6745	2	2			c.3025G>A						6	SNP	c.(3025-3027)GAG>AAG	22	22			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22	Broad	notch4 preproprotein			32172007		0.612	ENSG00000204301	10363	g.chr6:32172007C>T	cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			693			693	82.299812	KEEP	12	16	-1	24	19	12	16	-1	82.690448	24	19	0.41791	1	0	0	0	0	1	0	0	0	3.255	medium		0	T			NOTCH4_uc003oba.2_5'Flank|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	217	GBM-28-5208-TP	p.E1009K	C	TCCAGACACTCGTCCACGTCT	NM_004557	NP_004548	32172007	Q99466	NOTC4_HUMAN	0			19	3164	-	T	T			Missense_Mutation	1009			Extracellular (Potential).|EGF-like 26.			
NOTCH4	0	broad.mit.edu	GRCh37	6	32165183	32165183	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01	TCGA-41-3392-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375023.3:c.4945G>A	p.Ala1649Thr	p.A1649T	ENST00000375023	NM_004557.3	1649	Gct/Act	0			1			T	A/T	uc003obb.2	protein_coding	YES	CCDS34420.1			4945/6012									lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22	c.(4945-4947)GCT>ACT			PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24033,Gene3D:1.25.40.20,Pfam_domain:PF12796,PIRSF_domain:PIRSF002279,SMART_domains:SM00248,Superfamily_domains:SSF48403	notch4 preproprotein				ENSP00000364163		27/30									COSM3410979	27/30	.		ENST00000375023	Transcript			cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	ENSG00000204301	g.chr6:32165183C>T	7884			MODERATE		0.33	neutral	getma.org/?cm=msa&ty=f&p=NOTC4_HUMAN&rb=1605&re=1700&var=A1649T	getma.org/pdb.php?prot=NOTC4_HUMAN&from=1605&to=1700&var=A1649T	getma.org/?cm=var&var=hg19,6,32165183,C,T&fts=all	A1649T	--	--	1																																		GPSM3_uc003oaz.2_5'Flank|NOTCH4_uc011dpt.1_Missense_Mutation_p.A58T|NOTCH4_uc003oba.2_Missense_Mutation_p.A309T|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc011dpw.1_Missense_Mutation_p.A58T	1	1		benign(0.079)	p.A1649T	NM_004557	NP_004548		deleterious(0.01)	1	NOTC4_HUMAN	NOTCH4	HGNC	Q99466	NOTC4_HUMAN					27	5084	-			UPI0000130571	1649			Cytoplasmic (Potential).|ANK 1.		SNV	NOTCH4,missense_variant,p.Ala1649Thr,ENST00000375023,NM_004557.3;NOTCH4,missense_variant,p.Ala58Thr,ENST00000443903,;GPSM3,upstream_gene_variant,,ENST00000375040,NM_001276501.1;GPSM3,upstream_gene_variant,,ENST00000487761,;GPSM3,upstream_gene_variant,,ENST00000375043,NM_022107.1;NOTCH4,non_coding_transcript_exon_variant,,ENST00000474612,;NOTCH4,upstream_gene_variant,,ENST00000491215,;GPSM3,upstream_gene_variant,,ENST00000472768,;	uc003obb.2	c.4945G>A	5084/6745	2	2			c.4945G>A						6	SNP	c.(4945-4947)GCT>ACT	46	46			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22	Broad	notch4 preproprotein			32165183		0.697	ENSG00000204301	10363	g.chr6:32165183C>T	cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			693			693	-0.132535	KEEP	2	3	-1	30	22	2	3	-1	9.122951	30	22	0.078431	1	0	0	0	0	1	0	0	0	--	--		0	T			GPSM3_uc003oaz.2_5'Flank|NOTCH4_uc011dpt.1_Missense_Mutation_p.A58T|NOTCH4_uc003oba.2_Missense_Mutation_p.A309T|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc011dpw.1_Missense_Mutation_p.A58T	254	GBM-41-3392-TP	p.A1649T	C	CGGCGGGCAGCGGTTGGCCGG	NM_004557	NP_004548	32165183	Q99466	NOTC4_HUMAN	0			27	5084	-	T	T			Missense_Mutation	1649			Cytoplasmic (Potential).|ANK 1.			
NOV	0	broad.mit.edu	GRCh37	8	120435276	120435276	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0237-01	TCGA-06-0237-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259526.3:c.978G>T	p.Met326Ile	p.M326I	ENST00000259526	NM_002514.3	326	atG/atT	0			1			T	M/I	uc003yoq.2	protein_coding	YES	CCDS6328.1			978/1074									ovary(2)|skin(2)|kidney(1)	5	c.(976-978)ATG>ATT			PIRSF_domain:PIRSF036495,SMART_domains:SM00041,Pfam_domain:PF00007,PROSITE_patterns:PS01185,hmmpanther:PTHR11348:SF8,hmmpanther:PTHR11348,PROSITE_profiles:PS01225	nephroblastoma overexpressed precursor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)			ENSP00000259526		5-May									COSM3412714	5-May	.		ENST00000259526	Transcript			regulation of cell growth		growth factor activity|insulin-like growth factor binding	ENSG00000136999	g.chr8:120435276G>T	7885			MODERATE		2.92	medium	getma.org/?cm=msa&ty=f&p=NOV_HUMAN&rb=261&re=353&var=M326I	NA	getma.org/?cm=var&var=hg19,8,120435276,G,T&fts=all	M326I	--	--	1																																			1	1		probably_damaging(0.998)	p.M326I	NM_002514	NP_002505		deleterious(0)	1	NOV_HUMAN	NOV	HGNC	P48745	NOV_HUMAN	STAD - Stomach adenocarcinoma(47;0.000507)		B3FHX2_HUMAN		5	1199	+	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		UPI00001303BE	326			CTCK.		SNV	NOV,missense_variant,p.Met326Ile,ENST00000259526,NM_002514.3;RP11-775B15.2,intron_variant,,ENST00000519786,;	uc003yoq.2	c.978G>T	1205/2522	2	2			c.978G>T						8	SNP	c.(976-978)ATG>ATT	27	27			ovary(2)|skin(2)|kidney(1)	5	Broad	nephroblastoma overexpressed precursor		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	120435276		0.537	ENSG00000136999	10365	g.chr8:120435276G>T	regulation of cell growth		growth factor activity|insulin-like growth factor binding			71			71	-55.597881	KEEP	5	4	0.555555556	166	177	5	4	0.555555556	17.160155	166	177	0.03	1	0	0	0	0	1	0	0	0	--	--		0	T				54	GBM-06-0237-TP	p.M326I	G	AGCCAGTGATGGTCATTGGGA	NM_002514	NP_002505	120435276	P48745	NOV_HUMAN	0	STAD - Stomach adenocarcinoma(47;0.000507)		5	1199	+	T	T	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		Missense_Mutation	326			CTCK.			
NOV	0	broad.mit.edu	GRCh37	8	120431487	120431487	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259526.3:c.679C>T	p.Arg227Trp	p.R227W	ENST00000259526	NM_002514.3	227	Cgg/Tgg	0			1			T	R/W	uc003yoq.2	protein_coding	YES	CCDS6328.1			679/1074									ovary(2)|skin(2)|kidney(1)	5	c.(679-681)CGG>TGG			Superfamily_domains:SSF82895,PIRSF_domain:PIRSF036495,SMART_domains:SM00209,Pfam_domain:PF00090,hmmpanther:PTHR11348:SF8,hmmpanther:PTHR11348,PROSITE_profiles:PS50092	nephroblastoma overexpressed precursor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)			ENSP00000259526		5-Apr	1.65E-05			0.000116		1.50E-05			rs778254162,COSM3412713	5-Apr	.		ENST00000259526	Transcript			regulation of cell growth		growth factor activity|insulin-like growth factor binding	ENSG00000136999	g.chr8:120431487C>T	7885			MODERATE		4.015	high	getma.org/?cm=msa&ty=f&p=NOV_HUMAN&rb=208&re=249&var=R227W	NA	getma.org/?cm=var&var=hg19,8,120431487,C,T&fts=all	R227W	--	--	1																																			0,1	1		probably_damaging(0.996)	p.R227W	NM_002514	NP_002505		deleterious(0)	0,1	NOV_HUMAN	NOV	HGNC	P48745	NOV_HUMAN	STAD - Stomach adenocarcinoma(47;0.000507)		B3FHX2_HUMAN		4	900	+	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		UPI00001303BE	227			TSP type-1.		SNV	NOV,missense_variant,p.Arg227Trp,ENST00000259526,NM_002514.3;RP11-775B15.2,downstream_gene_variant,,ENST00000519786,;NOV,downstream_gene_variant,,ENST00000520082,;	uc003yoq.2	c.679C>T	906/2522	2	2			c.679C>T						8	SNP	c.(679-681)CGG>TGG	32	32			ovary(2)|skin(2)|kidney(1)	5	Broad	nephroblastoma overexpressed precursor		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	120431487		0.532	ENSG00000136999	10365	g.chr8:120431487C>T	regulation of cell growth		growth factor activity|insulin-like growth factor binding			71			71	-25.22534	KEEP	10	6	-1	112	145	10	6	-1	25.465435	112	145	0.053942	1	0	0	0	0	1	0	0	0	--	--		0	T				207	GBM-28-1753-TP	p.R227W	C	GTTCTCCACCCGGGTCACCAA	NM_002514	NP_002505	120431487	P48745	NOV_HUMAN	0	STAD - Stomach adenocarcinoma(47;0.000507)		4	900	+	T	T	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		Missense_Mutation	227			TSP type-1.			
NOVA1	0	broad.mit.edu	GRCh37	14	26941562	26941562	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-19-5955-01	TCGA-19-5955-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000539517.2:c.483T>G	p.Ser161=	p.S161=	ENST00000539517	NM_002515.2	161	tcT/tcG	0			1			C	S	uc001wpy.2	protein_coding	YES	CCDS32061.1			483/1524									skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5	c.(481-483)TCT>TCG			hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF143,Low_complexity_(Seg):seg,Superfamily_domains:SSF54791	neuro-oncological ventral antigen 1 isoform 1				ENSP00000438875		5-Apr									COSM3401278,COSM3401279	5-Apr	.		ENST00000539517	Transcript			locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	ENSG00000139910	g.chr14:26941562A>C	7886			LOW								--	--	1																																		NOVA1_uc001wpz.2_Intron|NOVA1_uc001wqa.2_Silent_p.S39S|NOVA1_uc001wqb.2_Silent_p.S161S	1,1	1			p.S161S	NM_002515	NP_002506			1,1	NOVA1_HUMAN	NOVA1	HGNC	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	F8VW64_HUMAN,B7Z770_HUMAN		4	801	-			UPI000013D74E	164					SNV	NOVA1,synonymous_variant,p.=,ENST00000539517,NM_002515.2;NOVA1,synonymous_variant,p.=,ENST00000267422,;NOVA1,synonymous_variant,p.=,ENST00000549571,;NOVA1,synonymous_variant,p.=,ENST00000449198,;NOVA1,synonymous_variant,p.=,ENST00000547619,;NOVA1,synonymous_variant,p.=,ENST00000344429,NM_006491.2;NOVA1,synonymous_variant,p.=,ENST00000549146,;NOVA1,intron_variant,,ENST00000465357,NM_006489.2;NOVA1,intron_variant,,ENST00000347476,;NOVA1,3_prime_UTR_variant,,ENST00000483536,;NOVA1,intron_variant,,ENST00000546546,;	uc001wpy.2	c.483T>G	801/3912	3	3			c.483T>G						14	SNP	c.(481-483)TCT>TCG	15	15			skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5	Broad	neuro-oncological ventral antigen 1 isoform 1			26941562		0.428	ENSG00000139910	10366	g.chr14:26941562A>C	locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			340			340	12.423573	KEEP	3	5	-1	21	18	3	5	-1	16.892066	21	18	0.153846	1	0	0	0	0	0	0	1	0	--	--		0	C			NOVA1_uc001wpz.2_Intron|NOVA1_uc001wqa.2_Silent_p.S39S|NOVA1_uc001wqb.2_Silent_p.S161S	175	GBM-19-5955-TP	p.S161S	A	GATCAGATGGAGAGGACTTGG	NM_002515	NP_002506	26941562	P51513	NOVA1_HUMAN	0		GBM - Glioblastoma multiforme(265;0.0135)	4	801	-	C	C			Silent	164						
NOX3	0	broad.mit.edu	GRCh37	6	155776184	155776184	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01	TCGA-15-0742-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000159060.2:c.128C>T	p.Thr43Ile	p.T43I	ENST00000159060	NM_015718.2	43	aCa/aTa	0			1			A	T/I	uc003qqm.2	protein_coding	YES	CCDS5250.1			128/1707									ovary(1)	1	c.(127-129)ACA>ATA			hmmpanther:PTHR11972:SF12,hmmpanther:PTHR11972	NADPH oxidase 3				ENSP00000159060		14-Feb									COSM3410729	14-Feb	.		ENST00000159060	Transcript					electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	ENSG00000074771	g.chr6:155776184G>A	7890			MODERATE		1.78	low	getma.org/?cm=msa&ty=f&p=NOX3_HUMAN&rb=1&re=54&var=T43I	NA	getma.org/?cm=var&var=hg19,6,155776184,G,A&fts=all	T43I	--	--	1																																			1	1		probably_damaging(0.999)	p.T43I	NM_015718	NP_056533		tolerated(0.06)	1	NOX3_HUMAN	NOX3	HGNC	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)			2	231	-		Breast(66;0.0183)	UPI000006EC80	43			Extracellular (Potential).		SNV	NOX3,missense_variant,p.Thr43Ile,ENST00000159060,NM_015718.2;	uc003qqm.2	c.128C>T	231/2042	2	2			c.128C>T						6	SNP	c.(127-129)ACA>ATA	47	47			ovary(1)	1	Broad	NADPH oxidase 3			155776184		0.343	ENSG00000074771	10369	g.chr6:155776184G>A			electron carrier activity|flavin adenine dinucleotide binding|iron ion binding							94.693357	KEEP	17	12	-1	7	0	17	12	-1	98.263056	7	0	0.828571	1	0	0	0	0	1	0	0	0	--	--		0	A				153	GBM-15-0742-TP	p.T43I	G	AATAACTCGTGTGTAATGGAA	NM_015718	NP_056533	155776184	Q9HBY0	NOX3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	2	231	-	A	A		Breast(66;0.0183)	Missense_Mutation	43			Extracellular (Potential).			
NOX3	0	broad.mit.edu	GRCh37	6	155743925	155743926	+	frameshift_variant	Frame_Shift_Del	DEL	CA	CA	-			TCGA-19-5960-01	TCGA-19-5960-01	CA	CA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000159060.2:c.1210_1211delTG	p.Cys404ArgfsTer23	p.C404Rfs*23	ENST00000159060	NM_015718.2	404	TGc/c	0			1			-	C/X	uc003qqm.2	protein_coding	YES	CCDS5250.1			1210-1211/1707									ovary(1)	1	c.(1210-1212)TGCfs			hmmpanther:PTHR11972:SF12,hmmpanther:PTHR11972,Gene3D:3.40.50.80,Pfam_domain:PF08030,Superfamily_domains:SSF52343,Prints_domain:PR00466	NADPH oxidase 3				ENSP00000159060		14-Oct										14-Oct	.		ENST00000159060	Transcript					electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	ENSG00000074771	g.chr6:155743925_155743926delCA	7890			HIGH								--	--	1																																				1			p.C404fs	NM_015718	NP_056533				NOX3_HUMAN	NOX3	HGNC	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)			10	1313_1314	-		Breast(66;0.0183)	UPI000006EC80	404			Helical; (Potential).		deletion	NOX3,frameshift_variant,p.Cys404ArgfsTer23,ENST00000159060,NM_015718.2;	uc003qqm.2	c.1210_1211delTG	1313-1314/2042	5	5			c.1210_1211delTG						6	DEL	c.(1210-1212)TGCfs	28	28			ovary(1)	1	Broad	NADPH oxidase 3			155743926		0.53	ENSG00000074771	10369	g.chr6:155743925_155743926delCA			electron carrier activity|flavin adenine dinucleotide binding|iron ion binding																				0.01	1	1	0	1	0	0	0	0	0	--	--		0	-				178	GBM-19-5960-TP	p.C404fs	CA	CGCGGCAACGCACACACACACT	NM_015718	NP_056533	155743925	Q9HBY0	NOX3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	10	1313_1314	-	-	-		Breast(66;0.0183)	Frame_Shift_Del	404			Helical; (Potential).			
NOX3	0	broad.mit.edu	GRCh37	6	155743956	155743957	+	missense_variant	Missense_Mutation	DNP	TC	TC	AA			TCGA-28-6450-01	TCGA-28-6450-01	TC	TC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000159060.2:c.1179_1180delGAinsTT	p.Thr394Ser	p.T394S	ENST00000159060	NM_015718.2	393	ctGAca/ctTTca	0			1			AA	LT/LS	uc003qqm.2	protein_coding	YES	CCDS5250.1			1179-1180/1707									ovary(1)	1	c.(1177-1182)CTGACA>CTTTCA			PROSITE_profiles:PS51384,hmmpanther:PTHR11972:SF12,hmmpanther:PTHR11972,Prints_domain:PR00466	NADPH oxidase 3				ENSP00000159060		14-Oct										14-Oct	.		ENST00000159060	Transcript					electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	ENSG00000074771	g.chr6:155743956_155743957TC>AA	7890			MODERATE								--	--	1																																				1			p.T394S	NM_015718	NP_056533				NOX3_HUMAN	NOX3	HGNC	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)			10	1282_1283	-		Breast(66;0.0183)	UPI000006EC80	394			Extracellular (Potential).|FAD-binding FR-type.		substitution	NOX3,missense_variant,p.Thr394Ser,ENST00000159060,NM_015718.2;	uc003qqm.2	c.1179_1180GA>TT	1282-1283/2042	2	2			c.1179_1180GA>TT						6	DNP	c.(1177-1182)CTGACA>CTTTCA	43	43			ovary(1)	1	Broad	NADPH oxidase 3			155743957		0.52	ENSG00000074771	10369	g.chr6:155743956_155743957TC>AA			electron carrier activity|flavin adenine dinucleotide binding|iron ion binding							138.185185	KEEP	0	0	-1	0	0	0	0	-1	138.970206	0	0	0.409091	1	0	0	0	0	1	0	0	0	--	--		0	AA				227	GBM-28-6450-TP	p.T394S	TC	AATACATCTGTCAGGGCAGTTC	NM_015718	NP_056533	155743956	Q9HBY0	NOX3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	10	1282_1283	-	AA	AA		Breast(66;0.0183)	Missense_Mutation	394			Extracellular (Potential).|FAD-binding FR-type.			
NOX4	50507	broad.mit.edu	GRCh37	11	89073272	89073272	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0241-01	TCGA-06-0241-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263317.4:c.1405T>G	p.Phe469Val	p.F469V	ENST00000263317		469	Ttc/Gtc	0			1			C	F/V	uc001pct.2	protein_coding	YES	CCDS8285.1			1405/1737									ovary(1)|central_nervous_system(1)	2	c.(1405-1407)TTC>GTC			hmmpanther:PTHR11972,Pfam_domain:PF08030,Gene3D:3.40.50.80,Superfamily_domains:SSF52343	NADPH oxidase 4 isoform a				ENSP00000263317		15/18									COSM3398186	15/18	.		ENST00000263317	Transcript			cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	ENSG00000086991	g.chr11:89073272A>C	7891			MODERATE		2.415	medium	getma.org/?cm=msa&ty=f&p=NOX4_HUMAN&rb=423&re=561&var=F469V	getma.org/pdb.php?prot=NOX4_HUMAN&from=423&to=561&var=F469V	getma.org/?cm=var&var=hg19,11,89073272,A,C&fts=all	F469V	--	--	1																																		NOX4_uc009yvr.2_Missense_Mutation_p.F444V|NOX4_uc001pcu.2_Missense_Mutation_p.F395V|NOX4_uc001pcw.2_Missense_Mutation_p.F162V|NOX4_uc001pcx.2_Missense_Mutation_p.F122V|NOX4_uc001pcv.2_Missense_Mutation_p.F429V|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Intron|NOX4_uc009yvp.2_Missense_Mutation_p.F233V|NOX4_uc010rtv.1_Missense_Mutation_p.F405V|NOX4_uc009yvq.2_Missense_Mutation_p.F445V	1	1		probably_damaging(1)	p.F469V	NM_016931	NP_058627		deleterious(0)	1	NOX4_HUMAN	NOX4	HGNC	Q9NPH5	NOX4_HUMAN			E7EMD7_HUMAN		15	1644	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	UPI000045655B	469			Cytoplasmic (Potential).|Mediates interaction with TLR4.		SNV	NOX4,missense_variant,p.Phe445Val,ENST00000535633,NM_001143836.1,NM_016931.3;NOX4,missense_variant,p.Phe445Val,ENST00000424319,;NOX4,missense_variant,p.Phe445Val,ENST00000343727,;NOX4,missense_variant,p.Phe445Val,ENST00000542487,NM_001143837.1;NOX4,missense_variant,p.Phe469Val,ENST00000263317,;NOX4,missense_variant,p.Phe445Val,ENST00000527956,;NOX4,missense_variant,p.Phe429Val,ENST00000534731,;NOX4,missense_variant,p.Phe405Val,ENST00000532825,;NOX4,missense_variant,p.Phe444Val,ENST00000528341,;NOX4,missense_variant,p.Phe490Val,ENST00000413594,;NOX4,missense_variant,p.Phe233Val,ENST00000525196,;NOX4,missense_variant,p.Phe162Val,ENST00000375979,;NOX4,missense_variant,p.Phe122Val,ENST00000531342,;NOX4,intron_variant,,ENST00000527626,;NOX4,3_prime_UTR_variant,,ENST00000529343,;NOX4,upstream_gene_variant,,ENST00000524473,;	uc001pct.2	c.1405T>G	1644/2388	4	4			c.1405T>G						11	SNP	c.(1405-1407)TTC>GTC	36	36			ovary(1)|central_nervous_system(1)	2	Broad	NADPH oxidase 4 isoform a			89073272		0.328	ENSG00000086991	10370	g.chr11:89073272A>C	cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity							-10.210148	KEEP	7	10	-1	112	130	7	10	-1	33.469583	112	130	0.060185	1	0	0	0	0	1	0	0	0	--	--		0	C			NOX4_uc009yvr.2_Missense_Mutation_p.F444V|NOX4_uc001pcu.2_Missense_Mutation_p.F395V|NOX4_uc001pcw.2_Missense_Mutation_p.F162V|NOX4_uc001pcx.2_Missense_Mutation_p.F122V|NOX4_uc001pcv.2_Missense_Mutation_p.F429V|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Intron|NOX4_uc009yvp.2_Missense_Mutation_p.F233V|NOX4_uc010rtv.1_Missense_Mutation_p.F405V|NOX4_uc009yvq.2_Missense_Mutation_p.F445V	57	GBM-06-0241-TP	p.F469V	A	AACCAACGGAAGGACTGGATA	NM_016931	NP_058627	89073272	Q9NPH5	NOX4_HUMAN	0			15	1644	-	C	C		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	Missense_Mutation	469			Cytoplasmic (Potential).|Mediates interaction with TLR4.			
NOX4	0	broad.mit.edu	GRCh37	11	89073317	89073317	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263317.4:c.1360C>T	p.Leu454Phe	p.L454F	ENST00000263317		454	Ctt/Ttt	0			1			A	L/F	uc001pct.2	protein_coding	YES	CCDS8285.1			1360/1737									ovary(1)|central_nervous_system(1)	2	c.(1360-1362)CTT>TTT			hmmpanther:PTHR11972,Pfam_domain:PF08030,Gene3D:3.40.50.80,Superfamily_domains:SSF52343	NADPH oxidase 4 isoform a				ENSP00000263317		15/18									COSM2155216	15/18	.		ENST00000263317	Transcript			cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	ENSG00000086991	g.chr11:89073317G>A	7891			MODERATE		2.725	medium	getma.org/?cm=msa&ty=f&p=NOX4_HUMAN&rb=423&re=561&var=L454F	getma.org/pdb.php?prot=NOX4_HUMAN&from=423&to=561&var=L454F	getma.org/?cm=var&var=hg19,11,89073317,G,A&fts=all	L454F	--	--	1																																		NOX4_uc009yvr.2_Missense_Mutation_p.L429F|NOX4_uc001pcu.2_Missense_Mutation_p.L380F|NOX4_uc001pcw.2_Missense_Mutation_p.L147F|NOX4_uc001pcx.2_Missense_Mutation_p.L107F|NOX4_uc001pcv.2_Missense_Mutation_p.L414F|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Missense_Mutation_p.L288F|NOX4_uc009yvp.2_Missense_Mutation_p.L218F|NOX4_uc010rtv.1_Missense_Mutation_p.L390F|NOX4_uc009yvq.2_Missense_Mutation_p.L430F	1	1		probably_damaging(0.99)	p.L454F	NM_016931	NP_058627		deleterious(0.01)	1	NOX4_HUMAN	NOX4	HGNC	Q9NPH5	NOX4_HUMAN			E7EMD7_HUMAN		15	1599	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	UPI000045655B	454			Cytoplasmic (Potential).|Mediates interaction with TLR4.		SNV	NOX4,missense_variant,p.Leu430Phe,ENST00000535633,NM_001143836.1,NM_016931.3;NOX4,missense_variant,p.Leu430Phe,ENST00000424319,;NOX4,missense_variant,p.Leu430Phe,ENST00000343727,;NOX4,missense_variant,p.Leu430Phe,ENST00000542487,NM_001143837.1;NOX4,missense_variant,p.Leu454Phe,ENST00000263317,;NOX4,missense_variant,p.Leu430Phe,ENST00000527956,;NOX4,missense_variant,p.Leu414Phe,ENST00000534731,;NOX4,missense_variant,p.Leu390Phe,ENST00000532825,;NOX4,missense_variant,p.Leu429Phe,ENST00000528341,;NOX4,missense_variant,p.Leu475Phe,ENST00000413594,;NOX4,missense_variant,p.Leu288Phe,ENST00000527626,;NOX4,missense_variant,p.Leu218Phe,ENST00000525196,;NOX4,missense_variant,p.Leu147Phe,ENST00000375979,;NOX4,missense_variant,p.Leu107Phe,ENST00000531342,;NOX4,3_prime_UTR_variant,,ENST00000529343,;NOX4,upstream_gene_variant,,ENST00000524473,;	uc001pct.2	c.1360C>T	1599/2388	2	2			c.1360C>T						11	SNP	c.(1360-1362)CTT>TTT	25	25			ovary(1)|central_nervous_system(1)	2	Broad	NADPH oxidase 4 isoform a			89073317		0.323	ENSG00000086991	10370	g.chr11:89073317G>A	cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity							160.16876	KEEP	39	26	-1	49	95	39	26	-1	166.098602	49	95	0.312169	1	0	0	0	0	1	0	0	0	--	--		0	A			NOX4_uc009yvr.2_Missense_Mutation_p.L429F|NOX4_uc001pcu.2_Missense_Mutation_p.L380F|NOX4_uc001pcw.2_Missense_Mutation_p.L147F|NOX4_uc001pcx.2_Missense_Mutation_p.L107F|NOX4_uc001pcv.2_Missense_Mutation_p.L414F|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Missense_Mutation_p.L288F|NOX4_uc009yvp.2_Missense_Mutation_p.L218F|NOX4_uc010rtv.1_Missense_Mutation_p.L390F|NOX4_uc009yvq.2_Missense_Mutation_p.L430F	142	GBM-14-1034-TP	p.L454F	G	AGTCTTCTAAGCTTGTATGGT	NM_016931	NP_058627	89073317	Q9NPH5	NOX4_HUMAN	0			15	1599	-	A	A		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	Missense_Mutation	454			Cytoplasmic (Potential).|Mediates interaction with TLR4.			
NOX4	0	broad.mit.edu	GRCh37	11	89106662	89106663	+	splice_region_variant,intron_variant	Splice_Region	INS	-	-	A	rs56022003		TCGA-14-1395-01	TCGA-14-1395-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263317.4:c.1075-3dupT		p.X359_splice	ENST00000263317				0	A:0.0216	A:0.0227	1	A:0.0014		A		uc001pct.2	protein_coding	YES	CCDS8285.1			-/1737									ovary(1)|central_nervous_system(1)	2	c.e12-1				NADPH oxidase 4 isoform a		A:0	A:0.0009	ENSP00000263317	A:0		0.0023	0.0194	0.00104	0.000116		0.000498		0.00122	rs552289081,COSM1722350		common_variant		ENST00000263317	Transcript		A:0.0062	cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	ENSG00000086991	g.chr11:89106662_89106663insA	7891			LOW	17-Nov							--	--	1																																		NOX4_uc009yvr.2_Splice_Site_p.C334_splice|NOX4_uc001pcu.2_Splice_Site_p.C285_splice|NOX4_uc001pcw.2_Splice_Site_p.C52_splice|NOX4_uc001pcx.2_Splice_Site_p.C52_splice|NOX4_uc001pcv.2_Splice_Site_p.C359_splice|NOX4_uc009yvo.2_Splice_Site|NOX4_uc010rtu.1_Splice_Site_p.C193_splice|NOX4_uc009yvp.2_Intron|NOX4_uc010rtv.1_Splice_Site_p.C335_splice|NOX4_uc009yvq.2_Splice_Site_p.C335_splice	0,1	1			p.C359_splice	NM_016931	NP_058627	A:0		0,1	NOX4_HUMAN	NOX4	HGNC	Q9NPH5	NOX4_HUMAN			E7EMD7_HUMAN		12	1314	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	UPI000045655B						insertion	NOX4,splice_region_variant,,ENST00000535633,NM_001143836.1,NM_016931.3;NOX4,splice_region_variant,,ENST00000424319,;NOX4,splice_region_variant,,ENST00000343727,;NOX4,splice_region_variant,,ENST00000542487,NM_001143837.1;NOX4,splice_region_variant,,ENST00000263317,;NOX4,splice_region_variant,,ENST00000527956,;NOX4,splice_region_variant,,ENST00000534731,;NOX4,splice_region_variant,,ENST00000532825,;NOX4,splice_region_variant,,ENST00000528341,;NOX4,splice_region_variant,,ENST00000413594,;NOX4,splice_region_variant,,ENST00000527626,;NOX4,splice_region_variant,,ENST00000375979,;NOX4,splice_region_variant,,ENST00000531342,;NOX4,intron_variant,,ENST00000525196,;NOX4,splice_region_variant,,ENST00000529343,;	uc001pct.2	c.1075_splice	-/2388	5	5			c.1075_splice						11	INS	c.e12-1	4	4			ovary(1)|central_nervous_system(1)	2	Broad	NADPH oxidase 4 isoform a			89106663		0.292	ENSG00000086991	10370	g.chr11:89106662_89106663insA	cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity																				0.04	1	0	0	1	1	0	0	0	1	--	--		0	A			NOX4_uc009yvr.2_Splice_Site_p.C334_splice|NOX4_uc001pcu.2_Splice_Site_p.C285_splice|NOX4_uc001pcw.2_Splice_Site_p.C52_splice|NOX4_uc001pcx.2_Splice_Site_p.C52_splice|NOX4_uc001pcv.2_Splice_Site_p.C359_splice|NOX4_uc009yvo.2_Splice_Site|NOX4_uc010rtu.1_Splice_Site_p.C193_splice|NOX4_uc009yvp.2_Intron|NOX4_uc010rtv.1_Splice_Site_p.C335_splice|NOX4_uc009yvq.2_Splice_Site_p.C335_splice	144	GBM-14-1395-TP	p.C359_splice	-	AGTTGGACACTAAAAAAAAATA	NM_016931	NP_058627	89106662	Q9NPH5	NOX4_HUMAN	0			12	1314	-	A	A		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	Splice_Site							
NOX4	0	broad.mit.edu	GRCh37	11	89155085	89155085	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01	TCGA-15-0742-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263317.4:c.614C>T	p.Thr205Met	p.T205M	ENST00000263317		205	aCg/aTg	0			1			A	T/M	uc001pct.2	protein_coding	YES	CCDS8285.1			614/1737									ovary(1)|central_nervous_system(1)	2	c.(613-615)ACG>ATG			Transmembrane_helices:TMhelix,hmmpanther:PTHR11972	NADPH oxidase 4 isoform a				ENSP00000263317		18-Aug	8.24E-06							6.14E-05	rs772044483,COSM3398187	18-Aug	.		ENST00000263317	Transcript			cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	ENSG00000086991	g.chr11:89155085G>A	7891			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=NOX4_HUMAN&rb=58&re=205&var=T205M	NA	getma.org/?cm=var&var=hg19,11,89155085,G,A&fts=all	T205M	--	--	1																																		NOX4_uc009yvr.2_Missense_Mutation_p.T180M|NOX4_uc001pcu.2_Missense_Mutation_p.T131M|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Missense_Mutation_p.T205M|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Missense_Mutation_p.T39M|NOX4_uc009yvp.2_Missense_Mutation_p.T205M|NOX4_uc010rtv.1_Missense_Mutation_p.T181M|NOX4_uc009yvq.2_Missense_Mutation_p.T181M|NOX4_uc009yvs.1_RNA	0,1	1		benign(0.001)	p.T205M	NM_016931	NP_058627		tolerated(1)	0,1	NOX4_HUMAN	NOX4	HGNC	Q9NPH5	NOX4_HUMAN			E7EMD7_HUMAN		8	853	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	UPI000045655B	205			Helical; (Potential).|Ferric oxidoreductase.		SNV	NOX4,missense_variant,p.Thr181Met,ENST00000535633,NM_001143836.1,NM_016931.3;NOX4,missense_variant,p.Thr181Met,ENST00000424319,;NOX4,missense_variant,p.Thr181Met,ENST00000343727,;NOX4,missense_variant,p.Thr181Met,ENST00000542487,NM_001143837.1;NOX4,missense_variant,p.Thr205Met,ENST00000263317,;NOX4,missense_variant,p.Thr181Met,ENST00000527956,;NOX4,missense_variant,p.Thr205Met,ENST00000534731,;NOX4,missense_variant,p.Thr181Met,ENST00000532825,;NOX4,missense_variant,p.Thr180Met,ENST00000528341,;NOX4,missense_variant,p.Thr226Met,ENST00000413594,;NOX4,missense_variant,p.Thr39Met,ENST00000527626,;NOX4,missense_variant,p.Thr205Met,ENST00000525196,;NOX4,intron_variant,,ENST00000375979,;NOX4,intron_variant,,ENST00000531342,;NOX4,missense_variant,p.Thr205Met,ENST00000529343,;	uc001pct.2	c.614C>T	853/2388	1	1			c.614C>T						11	SNP	c.(613-615)ACG>ATG	51	51			ovary(1)|central_nervous_system(1)	2	Broad	NADPH oxidase 4 isoform a			89155085		0.333	ENSG00000086991	10370	g.chr11:89155085G>A	cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity							110.11493	KEEP	19	17	-1	25	30	19	17	-1	110.440133	25	30	0.432099	1	0	0	0	0	1	0	0	0	--	--		0	A			NOX4_uc009yvr.2_Missense_Mutation_p.T180M|NOX4_uc001pcu.2_Missense_Mutation_p.T131M|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Missense_Mutation_p.T205M|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Missense_Mutation_p.T39M|NOX4_uc009yvp.2_Missense_Mutation_p.T205M|NOX4_uc010rtv.1_Missense_Mutation_p.T181M|NOX4_uc009yvq.2_Missense_Mutation_p.T181M|NOX4_uc009yvs.1_RNA	153	GBM-15-0742-TP	p.T205M	G	AACATGCAACGTCAGCAGCAT	NM_016931	NP_058627	89155085	Q9NPH5	NOX4_HUMAN	0			8	853	-	A	A		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	Missense_Mutation	205			Helical; (Potential).|Ferric oxidoreductase.			
NOX4	50507		GRCh37	11	89073229	89073229	+	splice_donor_variant	Splice_Site	SNP	A	A	T			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000263317.4:c.1446+2T>A		p.X482_splice	ENST00000263317		482		0																																																																																																																																																																																																																																												
NOX5	0	broad.mit.edu	GRCh37	15	69324094	69324094	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-26-5134-01	TCGA-26-5134-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388866.3:c.562G>T	p.Glu188Ter	p.E188*	ENST00000388866	NM_024505.3	188	Gag/Tag	0			1			T	E/*	uc002ars.1	protein_coding	YES	CCDS32276.2			562/2298									breast(1)|pancreas(1)	2	c.(562-564)GAG>TAG			Gene3D:1.10.238.10,Pfam_domain:PF13202,PROSITE_patterns:PS00018,PROSITE_profiles:PS50222,hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF36,SMART_domains:SM00054,Superfamily_domains:SSF47473	NADPH oxidase, EF-hand calcium binding domain 5				ENSP00000373518		16-Apr	8.24E-06			0.000125					rs780394300,COSM3401888	16-Apr	.		ENST00000388866	Transcript			angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	ENSG00000255346	g.chr15:69324094G>T	14874			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,15,69324094,G,T&fts=all	E188*	--	--	1																																		NOX5_uc002arp.1_Nonsense_Mutation_p.E170*|NOX5_uc002arq.1_Nonsense_Mutation_p.E142*|NOX5_uc010bid.1_Nonsense_Mutation_p.E153*|NOX5_uc002arr.1_Nonsense_Mutation_p.E160*|NOX5_uc010bie.1_5'UTR|NOX5_uc010bif.1_RNA	0,1	1			p.E188*	NM_024505	NP_078781			0,1	NOX5_HUMAN	NOX5	HGNC	Q96PH1	NOX5_HUMAN					4	582	+			UPI000006DDBD	188			Cytoplasmic (Potential).|4 (Potential).|EF-hand 4.		SNV	NOX5,stop_gained,p.Glu170Ter,ENST00000260364,;NOX5,stop_gained,p.Glu188Ter,ENST00000388866,NM_024505.3,NM_001184779.1;NOX5,stop_gained,p.Glu142Ter,ENST00000448182,;NOX5,stop_gained,p.Glu160Ter,ENST00000530406,;NOX5,stop_gained,p.Glu153Ter,ENST00000455873,NM_001184780.1;NOX5,non_coding_transcript_exon_variant,,ENST00000527315,;NOX5,upstream_gene_variant,,ENST00000525143,;RP11-809H16.2,downstream_gene_variant,,ENST00000557966,;	uc002ars.1	c.562G>T	603/2804	5	1			c.562G>T						15	SNP	c.(562-564)GAG>TAG	4	4			breast(1)|pancreas(1)	2	Broad	NADPH oxidase, EF-hand calcium binding domain 5			69324094		0.677	ENSG00000255346	10371	g.chr15:69324094G>T	angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity							2.145847	KEEP	2	2	0.5	9	21	2	2	0.5	6.875501	9	21	0.121212	1	0	0	0	0	0	1	0	0	--	--		0	T			NOX5_uc002arp.1_Nonsense_Mutation_p.E170*|NOX5_uc002arq.1_Nonsense_Mutation_p.E142*|NOX5_uc010bid.1_Nonsense_Mutation_p.E153*|NOX5_uc002arr.1_Nonsense_Mutation_p.E160*|NOX5_uc010bie.1_5'UTR|NOX5_uc010bif.1_RNA	183	GBM-26-5134-TP	p.E188*	G	CATCACCTTCGAGGAGCTCCG	NM_024505	NP_078781	69324094	Q96PH1	NOX5_HUMAN	0			4	582	+	T	T			Nonsense_Mutation	188			Cytoplasmic (Potential).|4 (Potential).|EF-hand 4.			
NOXA1	10811		GRCh37	9	140327980	140327980	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000341349.2:c.985C>T	p.Arg329Ter	p.R329*	ENST00000341349	NM_001256067.1	329	Cga/Tga	0																																																																																																																																																																																																																																												
NPAP1	23742	broad.mit.edu	GRCh37	15	24921169	24921169	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01	TCGA-06-2559-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329468.2:c.155G>A	p.Arg52His	p.R52H	ENST00000329468	NM_018958.2	52	cGc/cAc	0			1			A	R/H	uc001ywo.2	protein_coding	YES	CCDS10015.1			155/3471									ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8	c.(154-156)CGC>CAC			Low_complexity_(Seg):seg,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15	hypothetical protein LOC23742				ENSP00000333735		1-Jan	8.31E-06		9.05E-05						rs755681616,COSM2152701	1-Jan	.		ENST00000329468	Transcript			cell differentiation|multicellular organismal development|spermatogenesis			ENSG00000185823	g.chr15:24921169G>A	1190			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=CO002_HUMAN&rb=1&re=1154&var=R52H	NA	getma.org/?cm=var&var=hg19,15,24921169,G,A&fts=all	R52H	--	--	1																																			0,1	1		possibly_damaging(0.715)	p.R52H	NM_018958	NP_061831		tolerated(0.25)	0,1	NPAP1_HUMAN	NPAP1	HGNC	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)			1	629	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	UPI00001AFA1B	52					SNV	NPAP1,missense_variant,p.Arg52His,ENST00000329468,NM_018958.2;	uc001ywo.2	c.155G>A	629/8053	2	2			c.155G>A						15	SNP	c.(154-156)CGC>CAC	45	45			ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8	Broad	hypothetical protein LOC23742			24921169		0.756	ENSG00000185823	1746	g.chr15:24921169G>A	cell differentiation|multicellular organismal development|spermatogenesis					443			443	28.823518	KEEP	6	4	-1	12	6	6	4	-1	29.291616	12	6	0.357143	1	0	0	0	0	1	0	0	0	--	--		0	A				83	GBM-06-2559-TP	p.R52H	G	GGCCTGTTCCGCCGGAACGCC	NM_018958	NP_061831	24921169	Q9NZP6	CO002_HUMAN	0		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	629	+	A	A		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	Missense_Mutation	52						
NPAP1	0	broad.mit.edu	GRCh37	15	24921847	24921847	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01	TCGA-16-0861-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329468.2:c.833C>T	p.Ala278Val	p.A278V	ENST00000329468	NM_018958.2	278	gCg/gTg	0			1			T	A/V	uc001ywo.2	protein_coding	YES	CCDS10015.1			833/3471									ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8	c.(832-834)GCG>GTG			hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15,Pfam_domain:PF15229	hypothetical protein LOC23742				ENSP00000333735		1-Jan									rs780506627,COSM2082463	1-Jan	.		ENST00000329468	Transcript			cell differentiation|multicellular organismal development|spermatogenesis			ENSG00000185823	g.chr15:24921847C>T	1190			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CO002_HUMAN&rb=1&re=1154&var=A278V	NA	getma.org/?cm=var&var=hg19,15,24921847,C,T&fts=all	A278V	--	--	1																																			0,1	1		benign(0.124)	p.A278V	NM_018958	NP_061831		tolerated(0.28)	0,1	NPAP1_HUMAN	NPAP1	HGNC	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)			1	1307	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	UPI00001AFA1B	278					SNV	NPAP1,missense_variant,p.Ala278Val,ENST00000329468,NM_018958.2;	uc001ywo.2	c.833C>T	1307/8053	2	2			c.833C>T						15	SNP	c.(832-834)GCG>GTG	29	29			ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8	Broad	hypothetical protein LOC23742			24921847		0.602	ENSG00000185823	1746	g.chr15:24921847C>T	cell differentiation|multicellular organismal development|spermatogenesis				p.A278V(SNU81-Tumor)|p.A278V(M059K-Tumor)	443		p.A278V(SNU81-Tumor)|p.A278V(M059K-Tumor)	443	112.928477	KEEP	31	20	-1	40	31	31	20	-1	113.894583	40	31	0.393939	1	0	0	0	0	1	0	0	0	--	--		0	T				156	GBM-16-0861-TP	p.A278V	C	AAGTTGGCTGCGGAAGTGCTG	NM_018958	NP_061831	24921847	Q9NZP6	CO002_HUMAN	0		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	1307	+	T	T		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	Missense_Mutation	278						
NPAP1	0	broad.mit.edu	GRCh37	15	24922713	24922713	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-27-1838-01	TCGA-27-1838-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329468.2:c.1699T>C	p.Ser567Pro	p.S567P	ENST00000329468	NM_018958.2	567	Tca/Cca	0			1			C	S/P	uc001ywo.2	protein_coding	YES	CCDS10015.1			1699/3471									ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8	c.(1699-1701)TCA>CCA			hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15	hypothetical protein LOC23742				ENSP00000333735		1-Jan									COSM3401638	1-Jan	.		ENST00000329468	Transcript			cell differentiation|multicellular organismal development|spermatogenesis			ENSG00000185823	g.chr15:24922713T>C	1190			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=CO002_HUMAN&rb=1&re=1154&var=S567P	NA	getma.org/?cm=var&var=hg19,15,24922713,T,C&fts=all	S567P	--	--	1																																			1	1		possibly_damaging(0.461)	p.S567P	NM_018958	NP_061831		tolerated(0.33)	1	NPAP1_HUMAN	NPAP1	HGNC	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)			1	2173	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	UPI00001AFA1B	567					SNV	NPAP1,missense_variant,p.Ser567Pro,ENST00000329468,NM_018958.2;	uc001ywo.2	c.1699T>C	2173/8053	3	3			c.1699T>C						15	SNP	c.(1699-1701)TCA>CCA	1	1			ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8	Broad	hypothetical protein LOC23742			24922713		0.488	ENSG00000185823	1746	g.chr15:24922713T>C	cell differentiation|multicellular organismal development|spermatogenesis					443			443	181.817218	KEEP	38	24	-1	59	102	38	24	-1	189.639563	59	102	0.28934	1	0	0	0	0	1	0	0	0	--	--		0	C				197	GBM-27-1838-TP	p.S567P	T	CCACCTAACCTCACAGACTGC	NM_018958	NP_061831	24922713	Q9NZP6	CO002_HUMAN	0		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	2173	+	C	C		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	Missense_Mutation	567						
NPAP1	0	broad.mit.edu	GRCh37	15	24921157	24921157	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01	TCGA-28-1753-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329468.2:c.143G>A	p.Arg48His	p.R48H	ENST00000329468	NM_018958.2	48	cGc/cAc	0			1			A	R/H	uc001ywo.2	protein_coding	YES	CCDS10015.1			143/3471									ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8	c.(142-144)CGC>CAC			Low_complexity_(Seg):seg,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15	hypothetical protein LOC23742				ENSP00000333735		1-Jan									COSM3401637	1-Jan	.		ENST00000329468	Transcript			cell differentiation|multicellular organismal development|spermatogenesis			ENSG00000185823	g.chr15:24921157G>A	1190			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=CO002_HUMAN&rb=1&re=1154&var=R48H	NA	getma.org/?cm=var&var=hg19,15,24921157,G,A&fts=all	R48H	--	--	1																																			1	1		possibly_damaging(0.715)	p.R48H	NM_018958	NP_061831		tolerated(0.38)	1	NPAP1_HUMAN	NPAP1	HGNC	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)			1	617	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	UPI00001AFA1B	48					SNV	NPAP1,missense_variant,p.Arg48His,ENST00000329468,NM_018958.2;	uc001ywo.2	c.143G>A	617/8053	2	2			c.143G>A						15	SNP	c.(142-144)CGC>CAC	45	45			ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8	Broad	hypothetical protein LOC23742			24921157		0.761	ENSG00000185823	1746	g.chr15:24921157G>A	cell differentiation|multicellular organismal development|spermatogenesis					443			443	15.717144	KEEP	3	4	-1	10	18	3	4	-1	18.04313	10	18	0.21875	1	0	0	0	0	1	0	0	0	--	--		0	A				207	GBM-28-1753-TP	p.R48H	G	CGCCCTTTCCGCGGCCTGTTC	NM_018958	NP_061831	24921157	Q9NZP6	CO002_HUMAN	0		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	617	+	A	A		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	Missense_Mutation	48						
NPAP1	0	broad.mit.edu	GRCh37	15	24924482	24924482	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2495-01	TCGA-32-2495-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329468.2:c.3468G>A	p.Pro1156=	p.P1156=	ENST00000329468	NM_018958.2	1156	ccG/ccA	0			1			A	P	uc001ywo.2	protein_coding	YES	CCDS10015.1			3468/3471									ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8	c.(3466-3468)CCG>CCA				hypothetical protein LOC23742				ENSP00000333735		1-Jan	2.47E-05		8.70E-05			3.15E-05			rs751361960,COSM2082573	1-Jan	.		ENST00000329468	Transcript			cell differentiation|multicellular organismal development|spermatogenesis			ENSG00000185823	g.chr15:24924482G>A	1190			LOW								--	--	1																																			0,1	1			p.P1156P	NM_018958	NP_061831			0,1	NPAP1_HUMAN	NPAP1	HGNC	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)			1	3942	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	UPI00001AFA1B	1156					SNV	NPAP1,synonymous_variant,p.=,ENST00000329468,NM_018958.2;	uc001ywo.2	c.3468G>A	3942/8053	1	1			c.3468G>A						15	SNP	c.(3466-3468)CCG>CCA	62	62			ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8	Broad	hypothetical protein LOC23742			24924482		0.423	ENSG00000185823	1746	g.chr15:24924482G>A	cell differentiation|multicellular organismal development|spermatogenesis				p.P1156P(EFO27-Tumor)|p.P1156P(CMLT1-Tumor)	443		p.P1156P(EFO27-Tumor)|p.P1156P(CMLT1-Tumor)	443	116.023865	KEEP	26	19	-1	44	41	26	19	-1	118.401446	44	41	0.35	1	0	0	0	0	0	0	1	0	--	--		0	A				237	GBM-32-2495-TP	p.P1156P	G	TCCAACTTCCGTAAGAGCACC	NM_018958	NP_061831	24924482	Q9NZP6	CO002_HUMAN	0		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	3942	+	A	A		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	Silent	1156						
NPAP1	23742		GRCh37	15	24921107	24921107	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000329468.2:c.93C>T	p.Asp31=	p.D31=	ENST00000329468	NM_018958.2	31	gaC/gaT	0																																																																																																																																																																																																																																												
NPAP1	23742		GRCh37	15	24921103	24921103	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000329468.2:c.89G>A	p.Arg30Gln	p.R30Q	ENST00000329468	NM_018958.2	30	cGg/cAg	0																																																																																																																																																																																																																																												
NPAS3	0	broad.mit.edu	GRCh37	14	34270129	34270129	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-0616-01	TCGA-12-0616-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356141.4:c.2616C>T	p.Leu872=	p.L872=	ENST00000356141		872	ctC/ctT	0			1			T	L	uc001wru.2	protein_coding	YES	CCDS53891.1			2616/2802									ovary(1)|skin(1)	2	c.(2614-2616)CTC>CTT			hmmpanther:PTHR23043:SF21,hmmpanther:PTHR23043	neuronal PAS domain protein 3 isoform 3				ENSP00000348460		12-Dec									COSM2153554,COSM2153552,COSM2153553	12-Dec	.		ENST00000356141	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	ENSG00000151322	g.chr14:34270129C>T	19311			LOW								--	--	1																																		NPAS3_uc001wrs.2_Silent_p.L859L|NPAS3_uc001wrt.2_Silent_p.L840L|NPAS3_uc001wrv.2_Silent_p.L842L	1,1,1	1			p.L872L	NM_173159	NP_071406			1,1,1	NPAS3_HUMAN	NPAS3	HGNC	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)			12	2680	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		UPI00000743C2	872					SNV	NPAS3,synonymous_variant,p.=,ENST00000346562,NM_022123.2,NM_173159.2,NM_001164749.1,NM_001165893.1;NPAS3,synonymous_variant,p.=,ENST00000548645,;NPAS3,synonymous_variant,p.=,ENST00000551492,;NPAS3,synonymous_variant,p.=,ENST00000356141,;NPAS3,synonymous_variant,p.=,ENST00000357798,;NPAS3,synonymous_variant,p.=,ENST00000551634,;	uc001wru.2	c.2616C>T	2616/2802	1	1			c.2616C>T						14	SNP	c.(2614-2616)CTC>CTT	5	5			ovary(1)|skin(1)	2	Broad	neuronal PAS domain protein 3 isoform 3			34270129		0.637	ENSG00000151322	10376	g.chr14:34270129C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity							28.974489	KEEP	4	6	-1	7	4	4	6	-1	28.987171	7	4	0.529412	1	0	0	0	0	0	0	1	0	--	--		0	T			NPAS3_uc001wrs.2_Silent_p.L859L|NPAS3_uc001wrt.2_Silent_p.L840L|NPAS3_uc001wrv.2_Silent_p.L842L	118	GBM-12-0616-TP	p.L872L	C	TGGAGATGCTCTACCACCACG	NM_173159	NP_071406	34270129	Q8IXF0	NPAS3_HUMAN	0	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	12	2680	+	T	T	Breast(36;0.0102)|Hepatocellular(127;0.133)		Silent	872						
NPAS4	266743	broad.mit.edu	GRCh37	11	66190325	66190325	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01	TCGA-06-1804-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311034.2:c.611G>A	p.Gly204Asp	p.G204D	ENST00000311034	NM_178864.3	204	gGc/gAc	0			1			A	G/D	uc001ohx.1	protein_coding	YES	CCDS8138.1			611/2409										0	c.(610-612)GGC>GAC			Low_complexity_(Seg):seg,hmmpanther:PTHR23043:SF13,hmmpanther:PTHR23043	neuronal PAS domain protein 4				ENSP00000311196		8-Apr									COSM2152465	8-Apr	.		ENST00000311034	Transcript			transcription, DNA-dependent		DNA binding|signal transducer activity	ENSG00000174576	g.chr11:66190325G>A	18983			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=NPAS4_HUMAN&rb=203&re=273&var=G204D	NA	getma.org/?cm=var&var=hg19,11,66190325,G,A&fts=all	G204D	--	--	1																																		NPAS4_uc010rpc.1_Missense_Mutation_p.A31T	1	1		benign(0.203)	p.G204D	NM_178864	NP_849195		tolerated(0.07)	1	NPAS4_HUMAN	NPAS4	HGNC	Q8IUM7	NPAS4_HUMAN					4	787	+			UPI0000074744	204			PAS 2.		SNV	NPAS4,missense_variant,p.Gly204Asp,ENST00000311034,NM_178864.3;NPAS4,missense_variant,p.Gly204Asp,ENST00000525148,;NPAS4,upstream_gene_variant,,ENST00000524617,;	uc001ohx.1	c.611G>A	787/3303	1	1			c.611G>A						11	SNP	c.(610-612)GGC>GAC	60	60				0	Broad	neuronal PAS domain protein 4			66190325		0.632	ENSG00000174576	10377	g.chr11:66190325G>A	transcription, DNA-dependent		DNA binding|signal transducer activity							148.171249	KEEP	23	36	-1	35	48	23	36	-1	148.848123	35	48	0.423077	1	0	0	0	0	1	0	0	0	--	--		0	A			NPAS4_uc010rpc.1_Missense_Mutation_p.A31T	79	GBM-06-1804-TP	p.G204D	G	CCAGGTCCTGGCCCTGGCCCT	NM_178864	NP_849195	66190325	Q8IUM7	NPAS4_HUMAN	0			4	787	+	A	A			Missense_Mutation	204			PAS 2.			
NPAS4	0	broad.mit.edu	GRCh37	11	66189954	66189954	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4927-01	TCGA-76-4927-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311034.2:c.360C>T	p.Tyr120=	p.Y120=	ENST00000311034	NM_178864.3	120	taC/taT	0	T:0		1			T	Y	uc001ohx.1	protein_coding	YES	CCDS8138.1			360/2409										0	c.(358-360)TAC>TAT			Superfamily_domains:SSF55785,SMART_domains:SM00091,Gene3D:3.30.450.20,hmmpanther:PTHR23043:SF13,hmmpanther:PTHR23043,PROSITE_profiles:PS50112	neuronal PAS domain protein 4			T:0.0002	ENSP00000311196		8-Mar	7.41E-05			0.000231		7.49E-05		0.000121	rs377576767,COSM393878	8-Mar	.		ENST00000311034	Transcript			transcription, DNA-dependent		DNA binding|signal transducer activity	ENSG00000174576	g.chr11:66189954C>T	18983			LOW								--	--	1																																		NPAS4_uc010rpc.1_Translation_Start_Site	0,1	1			p.Y120Y	NM_178864	NP_849195			0,1	NPAS4_HUMAN	NPAS4	HGNC	Q8IUM7	NPAS4_HUMAN					3	536	+			UPI0000074744	120			PAS 1.		SNV	NPAS4,synonymous_variant,p.=,ENST00000311034,NM_178864.3;NPAS4,synonymous_variant,p.=,ENST00000525148,;NPAS4,upstream_gene_variant,,ENST00000524617,;	uc001ohx.1	c.360C>T	536/3303	2	2			c.360C>T						11	SNP	c.(358-360)TAC>TAT	17	17				0	Broad	neuronal PAS domain protein 4			66189954		0.557	ENSG00000174576	10377	g.chr11:66189954C>T	transcription, DNA-dependent		DNA binding|signal transducer activity							211.857126	KEEP	51	49	-1	113	152	51	49	-1	225.719588	113	152	0.27541	1	0	0	0	0	0	0	1	0	--	--		0	T			NPAS4_uc010rpc.1_Translation_Start_Site	267	GBM-76-4927-TP	p.Y120Y	C	ACAGCATCTACGACATCATTG	NM_178864	NP_849195	66189954	Q8IUM7	NPAS4_HUMAN	0			3	536	+	T	T			Silent	120			PAS 1.			
NPAS4	266743		GRCh37	11	66192332	66192332	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000311034.2:c.1971C>T	p.Gly657=	p.G657=	ENST00000311034	NM_178864.3	657	ggC/ggT	0																																																																																																																																																																																																																																												
NPBWR1	0	broad.mit.edu	GRCh37	8	53853296	53853296	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-4928-01	TCGA-76-4928-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331251.3:c.829A>G	p.Thr277Ala	p.T277A	ENST00000331251	NM_005285.3	277	Acc/Gcc	0			1			G	T/A	uc011ldu.1	protein_coding	YES	CCDS6151.1			829/987									ovary(2)|breast(1)	3	c.(829-831)ACC>GCC			PROSITE_profiles:PS50262,hmmpanther:PTHR24229:SF29,hmmpanther:PTHR24229,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	G protein-coupled receptor 7				ENSP00000330284		1-Jan									COSM3413060	1-Jan	.		ENST00000331251	Transcript			synaptic transmission	plasma membrane	opioid receptor activity|protein binding	ENSG00000183729	g.chr8:53853296A>G	4522			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=NPBW1_HUMAN&rb=54&re=307&var=T277A	getma.org/pdb.php?prot=NPBW1_HUMAN&from=54&to=307&var=T277A	getma.org/?cm=var&var=hg19,8,53853296,A,G&fts=all	T277A	--	--	1																																			1	1		benign(0.345)	p.T277A	NM_005285	NP_005276		tolerated(0.06)	1	NPBW1_HUMAN	NPBWR1	HGNC	P48145	NPBW1_HUMAN			H9NIL7_HUMAN		1	829	+		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)	UPI000013EEF3	277			Extracellular (Potential).		SNV	NPBWR1,missense_variant,p.Thr277Ala,ENST00000331251,NM_005285.3;	uc011ldu.1	c.829A>G	2306/2687	4	4			c.829A>G						8	SNP	c.(829-831)ACC>GCC	17	17			ovary(2)|breast(1)	3	Broad	G protein-coupled receptor 7			53853296		0.642	ENSG00000183729	10379	g.chr8:53853296A>G	synaptic transmission	plasma membrane	opioid receptor activity|protein binding							24.474943	KEEP	4	10	-1	29	34	4	10	-1	30.529852	29	34	0.184615	1	0	0	0	0	1	0	0	0	--	--		0	G				268	GBM-76-4928-TP	p.T277A	A	GGCGCTCACCACCGACCTCCC	NM_005285	NP_005276	53853296	P48145	NPBW1_HUMAN	0			1	829	+	G	G		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)	Missense_Mutation	277			Extracellular (Potential).			
NPC1	4864	broad.mit.edu	GRCh37	18	21120489	21120489	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5412-01	TCGA-06-5412-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269228.5:c.2527G>A	p.Val843Met	p.V843M	ENST00000269228	NM_000271.4	843	Gtg/Atg	0			1			T	V/M	uc002kum.3	protein_coding	YES	CCDS11878.1			2527/3837									ovary(2)	2	c.(2527-2529)GTG>ATG			hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF35,TIGRFAM_domain:TIGR00917	Niemann-Pick disease, type C1 precursor				ENSP00000269228		17/25									COSM3403470	17/25	.		ENST00000269228	Transcript	1		autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	ENSG00000141458	g.chr18:21120489C>T	7897			MODERATE		2.25	medium	getma.org/?cm=msa&ty=f&p=NPC1_HUMAN&rb=804&re=1003&var=V843M	NA	getma.org/?cm=var&var=hg19,18,21120489,C,T&fts=all	V843M	--	--	1																																		NPC1_uc010xaz.1_Missense_Mutation_p.V576M|NPC1_uc010xba.1_Missense_Mutation_p.V688M	1	1		benign(0.141)	p.V843M	NM_000271	NP_000262		deleterious(0.04)	1	NPC1_HUMAN	NPC1	HGNC	O15118	NPC1_HUMAN					17	2801	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		UPI000013D80F	843			Helical; (Potential).		SNV	NPC1,missense_variant,p.Val843Met,ENST00000269228,NM_000271.4;NPC1,missense_variant,p.Val536Met,ENST00000591051,;NPC1,missense_variant,p.Val525Met,ENST00000412552,;NPC1,upstream_gene_variant,,ENST00000591107,;NPC1,upstream_gene_variant,,ENST00000586150,;NPC1,non_coding_transcript_exon_variant,,ENST00000540608,;NPC1,non_coding_transcript_exon_variant,,ENST00000586718,;NPC1,upstream_gene_variant,,ENST00000588867,;NPC1,upstream_gene_variant,,ENST00000591075,;NPC1,upstream_gene_variant,,ENST00000591955,;	uc002kum.3	c.2527G>A	3082/5157	2	2			c.2527G>A						18	SNP	c.(2527-2529)GTG>ATG	17	17			ovary(2)	2	Broad	Niemann-Pick disease, type C1 precursor			21120489		0.363	ENSG00000141458	10381	g.chr18:21120489C>T	autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity							5.910759	KEEP	2	5	-1	24	30	2	5	-1	12.999143	24	30	0.12	1	0	0	0	0	1	0	0	0	--	--		0	T			NPC1_uc010xaz.1_Missense_Mutation_p.V576M|NPC1_uc010xba.1_Missense_Mutation_p.V688M	95	GBM-06-5412-TP	p.V843M	C	AGAACACCCACAAATATTGCT	NM_000271	NP_000262	21120489	O15118	NPC1_HUMAN	0			17	2801	-	T	T	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		Missense_Mutation	843			Helical; (Potential).			
NPC1	4864	broad.mit.edu	GRCh37	18	21119357	21119357	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs120074132		TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269228.5:c.2873G>A	p.Arg958Gln	p.R958Q	ENST00000269228	NM_000271.4	958	cGa/cAa	0			1			T	R/Q	uc002kum.3	protein_coding	YES	CCDS11878.1			2873/3837						pathogenic			ovary(2)	2	c.(2872-2874)CGA>CAA			hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF35,TIGRFAM_domain:TIGR00917	Niemann-Pick disease, type C1 precursor				ENSP00000269228		19/25	2.47E-05			0.000116		3.07E-05			rs120074132,COSM3403468	19/25	.		ENST00000269228	Transcript	1		autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	ENSG00000141458	g.chr18:21119357C>T	7897			MODERATE		3.31	medium	getma.org/?cm=msa&ty=f&p=NPC1_HUMAN&rb=804&re=1003&var=R958Q	NA	getma.org/?cm=var&var=hg19,18,21119357,C,T&fts=all	R958Q	--	--	1																																		NPC1_uc010xaz.1_Missense_Mutation_p.R691Q	1,1	1		probably_damaging(0.995)	p.R958Q	NM_000271	NP_000262		deleterious(0.02)	0,1	NPC1_HUMAN	NPC1	HGNC	O15118	NPC1_HUMAN					19	3147	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		UPI000013D80F	958		R -> L (in NPC1).|R -> Q (in NPC1).			SNV	NPC1,missense_variant,p.Arg958Gln,ENST00000269228,NM_000271.4;NPC1,missense_variant,p.Arg651Gln,ENST00000591051,;NPC1,missense_variant,p.Arg640Gln,ENST00000412552,;NPC1,upstream_gene_variant,,ENST00000591107,;NPC1,upstream_gene_variant,,ENST00000586150,;NPC1,downstream_gene_variant,,ENST00000540608,;NPC1,non_coding_transcript_exon_variant,,ENST00000591075,;NPC1,upstream_gene_variant,,ENST00000588867,;NPC1,downstream_gene_variant,,ENST00000586718,;NPC1,upstream_gene_variant,,ENST00000591955,;NPC1,upstream_gene_variant,,ENST00000587163,;	uc002kum.3	c.2873G>A	3428/5157	1	1			c.2873G>A						18	SNP	c.(2872-2874)CGA>CAA	7	7			ovary(2)	2	Broad	Niemann-Pick disease, type C1 precursor			21119357		0.448	ENSG00000141458	10381	g.chr18:21119357C>T	autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity							96.212617	KEEP	20	16	-1	27	24	20	16	-1	96.637124	27	24	0.418919	1	0	0	0	0	1	0	0	0	--	--		0	T			NPC1_uc010xaz.1_Missense_Mutation_p.R691Q	102	GBM-06-5858-TP	p.R958Q	C	ATTGTCCACTCGACAGCAAGA	NM_000271	NP_000262	21119357	O15118	NPC1_HUMAN	0			19	3147	-	T	T	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		Missense_Mutation	958		R -> L (in NPC1).|R -> Q (in NPC1).				
NPC1	4864	broad.mit.edu	GRCh37	18	21119839	21119839	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs34302553	byFrequency	TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269228.5:c.2731G>A	p.Gly911Ser	p.G911S	ENST00000269228	NM_000271.4	911	Ggc/Agc	0	T:0.0134	T:0.0091	1	T:0		T	G/S	uc002kum.3	protein_coding	YES	CCDS11878.1			2731/3837						likely_benign			ovary(2)	2	c.(2731-2733)GGC>AGC			hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF35,TIGRFAM_domain:TIGR00917	Niemann-Pick disease, type C1 precursor		T:0	T:0.0005	ENSP00000269228	T:0.001	18/25	0.0012	0.011	0.000345	0.000116		0.000345		0.000242	rs34302553,COSM3403469	18/25	common_variant		ENST00000269228	Transcript	1	T:0.0026	autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	ENSG00000141458	g.chr18:21119839C>T	7897			MODERATE		1.11	low	getma.org/?cm=msa&ty=f&p=NPC1_HUMAN&rb=804&re=1003&var=G911S	NA	getma.org/?cm=var&var=hg19,18,21119839,C,T&fts=all	G911S	--	--	1																																		NPC1_uc010xaz.1_Missense_Mutation_p.G644S|NPC1_uc010xba.1_Missense_Mutation_p.G756S	1,1	1		probably_damaging(0.927)	p.G911S	NM_000271	NP_000262	T:0	tolerated(0.14)	0,1	NPC1_HUMAN	NPC1	HGNC	O15118	NPC1_HUMAN					18	3005	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		UPI000013D80F	911					SNV	NPC1,missense_variant,p.Gly911Ser,ENST00000269228,NM_000271.4;NPC1,missense_variant,p.Gly604Ser,ENST00000591051,;NPC1,missense_variant,p.Gly593Ser,ENST00000412552,;NPC1,upstream_gene_variant,,ENST00000591107,;NPC1,upstream_gene_variant,,ENST00000586150,;NPC1,non_coding_transcript_exon_variant,,ENST00000540608,;NPC1,non_coding_transcript_exon_variant,,ENST00000591075,;NPC1,non_coding_transcript_exon_variant,,ENST00000586718,;NPC1,upstream_gene_variant,,ENST00000588867,;NPC1,upstream_gene_variant,,ENST00000591955,;	uc002kum.3	c.2731G>A	3286/5157	2	2			c.2731G>A						18	SNP	c.(2731-2733)GGC>AGC	17	17			ovary(2)	2	Broad	Niemann-Pick disease, type C1 precursor			21119839		0.547	ENSG00000141458	10381	g.chr18:21119839C>T	autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity							206.811524	KEEP	27	43	-1	65	62	27	43	-1	209.419852	65	62	0.370787	1	0	0	0	0	1	0	0	0	--	--		0	T			NPC1_uc010xaz.1_Missense_Mutation_p.G644S|NPC1_uc010xba.1_Missense_Mutation_p.G756S	102	GBM-06-5858-TP	p.G911S	C	CAGCCCATGCCGCCGCACACC	NM_000271	NP_000262	21119839	O15118	NPC1_HUMAN	0			18	3005	-	T	T	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		Missense_Mutation	911						
NPC1	4864	broad.mit.edu	GRCh37	18	21136387	21136387	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-5858-01	TCGA-06-5858-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269228.5:c.1146A>G	p.Ser382=	p.S382=	ENST00000269228	NM_000271.4	382	tcA/tcG	0			1			C	S	uc002kum.3	protein_coding	YES	CCDS11878.1			1146/3837									ovary(2)	2	c.(1144-1146)TCA>TCG			hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF35,TIGRFAM_domain:TIGR00917	Niemann-Pick disease, type C1 precursor				ENSP00000269228		25-Aug									COSM3403471	25-Aug	.		ENST00000269228	Transcript	1		autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	ENSG00000141458	g.chr18:21136387T>C	7897			LOW								--	--	1																																		NPC1_uc010xaz.1_Silent_p.S183S|NPC1_uc010xba.1_Silent_p.S227S	1	1			p.S382S	NM_000271	NP_000262			1	NPC1_HUMAN	NPC1	HGNC	O15118	NPC1_HUMAN					8	1420	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		UPI000013D80F	382					SNV	NPC1,synonymous_variant,p.=,ENST00000269228,NM_000271.4;NPC1,synonymous_variant,p.=,ENST00000412552,;NPC1,synonymous_variant,p.=,ENST00000591051,;NPC1,non_coding_transcript_exon_variant,,ENST00000540608,;NPC1,upstream_gene_variant,,ENST00000590301,;	uc002kum.3	c.1146A>G	1701/5157	3	3			c.1146A>G						18	SNP	c.(1144-1146)TCA>TCG	6	6			ovary(2)	2	Broad	Niemann-Pick disease, type C1 precursor			21136387		0.567	ENSG00000141458	10381	g.chr18:21136387T>C	autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity							77.927557	KEEP	13	15	-1	31	21	13	15	-1	79.48417	31	21	0.346667	1	0	0	0	0	0	0	1	0	--	--		0	C			NPC1_uc010xaz.1_Silent_p.S183S|NPC1_uc010xba.1_Silent_p.S227S	102	GBM-06-5858-TP	p.S382S	T	TGCTGGGGGCTGACCAGAGGT	NM_000271	NP_000262	21136387	O15118	NPC1_HUMAN	0			8	1420	-	C	C	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		Silent	382						
NPC1L1	0	broad.mit.edu	GRCh37	7	44579249	44579249	+	synonymous_variant	Silent	SNP	G	G	A	rs148698796		TCGA-19-2620-01	TCGA-19-2620-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000289547.4:c.747C>T	p.Asp249=	p.D249=	ENST00000289547	NM_013389.2	249	gaC/gaT	0	A:0.0002	A:0	1	A:0.0029		A	D	uc003tlb.2	protein_coding	YES	CCDS5491.1			747/4080									ovary(3)|central_nervous_system(1)|skin(1)	5	c.(745-747)GAC>GAT			hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF89	Niemann-Pick C1-like protein 1 isoform 1	Ezetimibe(DB00973)	A:0	A:0.0002	ENSP00000289547	A:0.001	20-Feb									rs148698796,COSM3412085	20-Feb	.		ENST00000289547	Transcript	1	A:0.0006	cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	ENSG00000015520	g.chr7:44579249G>A	7898			LOW								--	--	1																																		NPC1L1_uc003tlc.2_Silent_p.D249D|NPC1L1_uc011kbw.1_Silent_p.D249D|NPC1L1_uc003tld.2_Silent_p.D249D	0,1	1			p.D249D	NM_013389	NP_037521	A:0		0,1	NPCL1_HUMAN	NPC1L1	HGNC	Q9UHC9	NPCL1_HUMAN					2	803	-			UPI000013DF88	249			Extracellular (Potential).		SNV	NPC1L1,synonymous_variant,p.=,ENST00000289547,NM_013389.2;NPC1L1,synonymous_variant,p.=,ENST00000381160,NM_001101648.1;NPC1L1,synonymous_variant,p.=,ENST00000546276,;NPC1L1,synonymous_variant,p.=,ENST00000423141,;	uc003tlb.2	c.747C>T	803/5048	2	2			c.747C>T						7	SNP	c.(745-747)GAC>GAT	24	24			ovary(3)|central_nervous_system(1)|skin(1)	5	Broad	Niemann-Pick C1-like protein 1 isoform 1		Ezetimibe(DB00973)	44579249		0.632	ENSG00000015520	10382	g.chr7:44579249G>A	cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding							77.476695	KEEP	16	13	-1	30	27	16	13	-1	79.297157	30	27	0.341463	1	0	0	0	0	0	0	1	0	--	--		0	A			NPC1L1_uc003tlc.2_Silent_p.D249D|NPC1L1_uc011kbw.1_Silent_p.D249D|NPC1L1_uc003tld.2_Silent_p.D249D	162	GBM-19-2620-TP	p.D249D	G	TCGCCACGTCGTCACCTTGGG	NM_013389	NP_037521	44579249	Q9UHC9	NPCL1_HUMAN	0			2	803	-	A	A			Silent	249			Extracellular (Potential).			
NPC1L1	29881		GRCh37	7	44578753	44578753	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000289547.4:c.1243C>A	p.Pro415Thr	p.P415T	ENST00000289547	NM_013389.2	415	Cct/Act	0																																																																																																																																																																																																																																												
NPDC1	0	broad.mit.edu	GRCh37	9	139934426	139934426	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-06-6701-01	TCGA-06-6701-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371601.4:c.882C>G	p.Ala294=	p.A294=	ENST00000371601	NM_015392.3	294	gcC/gcG	0			1			C	A	uc004ckt.2	protein_coding	YES	CCDS7024.1			882/978										0	c.(880-882)GCC>GCG			hmmpanther:PTHR23352,Pfam_domain:PF06809	neural proliferation, differentiation and				ENSP00000360660		9-Aug									COSM3413479,COSM3413480	9-Aug	.		ENST00000371601	Transcript				integral to membrane		ENSG00000107281	g.chr9:139934426G>C	7899			LOW								--	--	1																																		NPDC1_uc004ckr.2_Silent_p.A294A|NPDC1_uc004cks.2_Silent_p.A372A|NPDC1_uc004cku.2_Silent_p.A294A	1,1	1			p.A294A	NM_015392	NP_056207			1,1	NPDC1_HUMAN	NPDC1	HGNC	Q9NQX5	NPDC1_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)			8	1117	-	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	UPI00000361E2	294					SNV	NPDC1,synonymous_variant,p.=,ENST00000371600,;NPDC1,synonymous_variant,p.=,ENST00000371601,NM_015392.3;C9orf139,downstream_gene_variant,,ENST00000314330,NM_207511.1;RP11-229P13.20,downstream_gene_variant,,ENST00000457302,;NPDC1,non_coding_transcript_exon_variant,,ENST00000496498,;NPDC1,non_coding_transcript_exon_variant,,ENST00000472668,;NPDC1,downstream_gene_variant,,ENST00000488145,;NPDC1,downstream_gene_variant,,ENST00000485589,;	uc004ckt.2	c.882C>G	1096/1494	3	3			c.882C>G						9	SNP	c.(880-882)GCC>GCG	51	51				0	Broad	neural proliferation, differentiation and			139934426		0.657	ENSG00000107281	10384	g.chr9:139934426G>C		integral to membrane								64.359493	KEEP	9	12	-1	23	21	9	12	-1	65.437914	23	21	0.355932	1	0	0	0	0	0	0	1	0	--	--		0	C			NPDC1_uc004ckr.2_Silent_p.A294A|NPDC1_uc004cks.2_Silent_p.A372A|NPDC1_uc004cku.2_Silent_p.A294A	115	GBM-06-6701-TP	p.A294A	G	CACTCACCGGGGCCAGGCCCG	NM_015392	NP_056207	139934426	Q9NQX5	NPDC1_HUMAN	0	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	8	1117	-	C	C	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	Silent	294						
NPEPPS	9520	broad.mit.edu	GRCh37	17	45681356	45681356	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0750-01	TCGA-06-0750-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322157.4:c.1816C>T	p.Arg606Cys	p.R606C	ENST00000322157	NM_006310.3	606	Cgt/Tgt	0			1			T	R/C	uc002ilr.3	protein_coding	YES	CCDS45721.1			1816/2760										0	c.(1816-1818)CGT>TGT			hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF163,Pfam_domain:PF11838	aminopeptidase puromycin sensitive				ENSP00000320324		16/23	8.28E-06					1.51E-05			rs756003607,COSM3402962	16/23	.		ENST00000322157	Transcript			proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	ENSG00000141279	g.chr17:45681356C>T	7900			MODERATE		1.65	low	getma.org/?cm=msa&ty=f&p=PSA_HUMAN&rb=578&re=892&var=R606C	getma.org/pdb.php?prot=PSA_HUMAN&from=578&to=892&var=R606C	getma.org/?cm=var&var=hg19,17,45681356,C,T&fts=all	R606C	--	--	1																																		NPEPPS_uc010wkt.1_Missense_Mutation_p.R602C|NPEPPS_uc010wku.1_Missense_Mutation_p.R570C|NPEPPS_uc010wkv.1_Missense_Mutation_p.R160C|NPEPPS_uc002ils.1_Missense_Mutation_p.R39C	0,1	1		possibly_damaging(0.773)	p.R606C	NM_006310	NP_006301		deleterious(0.01)	0,1	PSA_HUMAN	NPEPPS	HGNC	P55786	PSA_HUMAN			E9PJ74_HUMAN,B7Z1H4_HUMAN		16	2039	+			UPI0000140D51	606					SNV	NPEPPS,missense_variant,p.Arg606Cys,ENST00000322157,NM_006310.3;NPEPPS,missense_variant,p.Arg602Cys,ENST00000530173,;NPEPPS,missense_variant,p.Arg526Cys,ENST00000544660,;RP11-580I16.2,non_coding_transcript_exon_variant,,ENST00000582389,;RP11-580I16.2,non_coding_transcript_exon_variant,,ENST00000582066,;NPEPPS,missense_variant,p.Arg37Cys,ENST00000525048,;NPEPPS,3_prime_UTR_variant,,ENST00000530514,;NPEPPS,non_coding_transcript_exon_variant,,ENST00000531486,;NPEPPS,downstream_gene_variant,,ENST00000534807,;	uc002ilr.3	c.1816C>T	2053/4353	1	1			c.1816C>T						17	SNP	c.(1816-1818)CGT>TGT	1	1				0	Broad	aminopeptidase puromycin sensitive			45681356		0.433	ENSG00000141279	10386	g.chr17:45681356C>T	proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding							6.810851	KEEP	1	5	-1	30	18	1	5	-1	14.388986	30	18	0.115385	1	0	0	0	0	1	0	0	0	--	--		0	T			NPEPPS_uc010wkt.1_Missense_Mutation_p.R602C|NPEPPS_uc010wku.1_Missense_Mutation_p.R570C|NPEPPS_uc010wkv.1_Missense_Mutation_p.R160C|NPEPPS_uc002ils.1_Missense_Mutation_p.R39C	70	GBM-06-0750-TP	p.R606C	C	ACCAGGCATTCGTGACCTTTC	NM_006310	NP_006301	45681356	P55786	PSA_HUMAN	0			16	2039	+	T	T			Missense_Mutation	606						
NPFFR2	10886		GRCh37	4	72897628	72897628	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000308744.6:c.10T>A	p.Phe4Ile	p.F4I	ENST00000308744	NM_004885.2	4	Ttc/Atc	0																																																																																																																																																																																																																																												
NPHP1	4867		GRCh37	2	110922207	110922207	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000316534.4:c.829C>T	p.Arg277Ter	p.R277*	ENST00000316534		277	Cga/Tga	0																																																																																																																																																																																																																																												
NPHP3	0	broad.mit.edu	GRCh37	3	132413753	132413754	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C			TCGA-26-6174-01	TCGA-26-6174-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337331.5:c.2227dupG	p.Asp743GlyfsTer7	p.D743Gfs*7	ENST00000337331	NM_153240.4	743	gat/gGat	0			1			C	D/GX	uc003epe.1	protein_coding	YES	CCDS3078.1			2227-2228/3993									ovary(1)	1	c.(2227-2229)GATfs			hmmpanther:PTHR19959:SF133,hmmpanther:PTHR19959	nephrocystin 3				ENSP00000338766		16/27										16/27	.		ENST00000337331	Transcript	1		maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	ENSG00000113971	g.chr3:132413753_132413754insC	7907			HIGH								--	--	1																																		NPHP3_uc003epd.1_5'UTR		1			p.D743fs	NM_153240	NP_694972				NPHP3_HUMAN	NPHP3	HGNC	Q7Z494	NPHP3_HUMAN					16	2304_2305	-			UPI00001B6B30	743					insertion	NPHP3,frameshift_variant,p.Asp743GlyfsTer7,ENST00000337331,NM_153240.4;NPHP3,3_prime_UTR_variant,,ENST00000326682,;NPHP3,3_prime_UTR_variant,,ENST00000471702,;NPHP3,3_prime_UTR_variant,,ENST00000465756,;NPHP3,non_coding_transcript_exon_variant,,ENST00000490993,;NPHP3,non_coding_transcript_exon_variant,,ENST00000515289,;NPHP3,upstream_gene_variant,,ENST00000474871,;	uc003epe.1	c.2227_2228insG	2314-2315/4362	5	5			c.2227_2228insG						3	INS	c.(2227-2229)GATfs	35	35			ovary(1)	1	Broad	nephrocystin 3			132413754		0.381	ENSG00000113971	10391	g.chr3:132413753_132413754insC	maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding																				0.22	1	0	0	1	1	0	0	0	0	--	--		0	C			NPHP3_uc003epd.1_5'UTR	188	GBM-26-6174-TP	p.D743fs	-	TGAAAGAGTATCTTGACACTGG	NM_153240	NP_694972	132413753	Q7Z494	NPHP3_HUMAN	0			16	2304_2305	-	C	C			Frame_Shift_Ins	743						
NPHP3	27031		GRCh37	3	132432110	132432110	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000337331.5:c.978G>C	p.Lys326Asn	p.K326N	ENST00000337331	NM_153240.4	326	aaG/aaC	0																																																																																																																																																																																																																																												
NPHP3	27031		GRCh37	3	132432101	132432101	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000337331.5:c.987C>T	p.Cys329=	p.C329=	ENST00000337331	NM_153240.4	329	tgC/tgT	0																																																																																																																																																																																																																																												
NPHP4	261734	broad.mit.edu	GRCh37	1	5965822	5965822	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378156.4:c.1633G>A	p.Gly545Ser	p.G545S	ENST00000378156	NM_015102.3	545	Ggt/Agt	0	T:0.0003	T:0	1	T:0		T	G/S	uc001alq.1	protein_coding	YES	CCDS44052.1			1633/4281									pancreas(1)	1	c.(1633-1635)GGT>AGT			hmmpanther:PTHR31043:SF3,hmmpanther:PTHR31043	nephroretinin		T:0	T:0	ENSP00000367398	T:0	14/30	2.48E-05					4.41E-05		8.16E-05	rs376353686,COSM3400919	14/30	.		ENST00000378156	Transcript	1	T:0.0002	actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	ENSG00000131697	g.chr1:5965822C>T	19104			MODERATE		-0.695	neutral	getma.org/?cm=msa&ty=f&p=NPHP4_HUMAN&rb=529&re=1424&var=G545S	NA	getma.org/?cm=var&var=hg19,1,5965822,C,T&fts=all	G545S	--	--	1																																		NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA|NPHP4_uc009vlu.1_5'Flank	0,1	1		benign(0.094)	p.G545S	NM_015102	NP_055917	T:0.001	tolerated(0.61)	0,1	NPHP4_HUMAN	NPHP4	HGNC	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)			14	1899	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	UPI00001303E5	545					SNV	NPHP4,missense_variant,p.Gly545Ser,ENST00000378156,NM_015102.3;NPHP4,non_coding_transcript_exon_variant,,ENST00000478423,;NPHP4,missense_variant,p.Gly544Ser,ENST00000489180,;NPHP4,3_prime_UTR_variant,,ENST00000378169,;NPHP4,upstream_gene_variant,,ENST00000466897,;	uc001alq.1	c.1633G>A	1899/4994	2	2			c.1633G>A						1	SNP	c.(1633-1635)GGT>AGT	33	33			pancreas(1)	1	Broad	nephroretinin			5965822		0.582	ENSG00000131697	10392	g.chr1:5965822C>T	actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity							2.105663	KEEP	2	1	-1	12	19	2	1	-1	6.398112	12	19	0.107143	1	0	0	0	0	1	0	0	0	--	--		0	T			NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA|NPHP4_uc009vlu.1_5'Flank	73	GBM-06-0877-TP	p.G545S	C	TGGGAGATACCGGCCTCCAAC	NM_015102	NP_055917	5965822	O75161	NPHP4_HUMAN	0		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	14	1899	-	T	T	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	Missense_Mutation	545						
NPHP4	0	broad.mit.edu	GRCh37	1	5969267	5969267	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-27-2521-01	TCGA-27-2521-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378156.4:c.1448C>G	p.Pro483Arg	p.P483R	ENST00000378156	NM_015102.3	483	cCa/cGa	0			1			C	P/R	uc001alq.1	protein_coding	YES	CCDS44052.1			1448/4281									pancreas(1)	1	c.(1447-1449)CCA>CGA			Low_complexity_(Seg):seg,hmmpanther:PTHR31043:SF3,hmmpanther:PTHR31043	nephroretinin				ENSP00000367398		30-Dec	3.32E-05					0.000118			rs759608529,COSM3400921	30-Dec	.		ENST00000378156	Transcript	1		actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	ENSG00000131697	g.chr1:5969267G>C	19104			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=NPHP4_HUMAN&rb=401&re=528&var=P483R	NA	getma.org/?cm=var&var=hg19,1,5969267,G,C&fts=all	P483R	--	--	1																																		NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_Intron|NPHP4_uc001alt.1_Intron	0,1	1		possibly_damaging(0.865)	p.P483R	NM_015102	NP_055917		tolerated(0.22)	0,1	NPHP4_HUMAN	NPHP4	HGNC	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)			12	1714	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	UPI00001303E5	483					SNV	NPHP4,missense_variant,p.Pro483Arg,ENST00000378156,NM_015102.3;NPHP4,intron_variant,,ENST00000478423,;NPHP4,missense_variant,p.Pro483Arg,ENST00000489180,;NPHP4,intron_variant,,ENST00000378169,;NPHP4,upstream_gene_variant,,ENST00000466897,;	uc001alq.1	c.1448C>G	1714/4994	4	4			c.1448C>G						1	SNP	c.(1447-1449)CCA>CGA	35	35			pancreas(1)	1	Broad	nephroretinin			5969267		0.642	ENSG00000131697	10392	g.chr1:5969267G>C	actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity							9.424052	KEEP	3	0	-1	2	4	3	0	-1	9.455167	2	4	0.428571	1	0	0	0	0	1	0	0	0	--	--		0	C			NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_Intron|NPHP4_uc001alt.1_Intron	200	GBM-27-2521-TP	p.P483R	G	TACTGGCGCTGGCGGGCCTGG	NM_015102	NP_055917	5969267	O75161	NPHP4_HUMAN	0		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	12	1714	-	C	C	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	Missense_Mutation	483						
NPHP4	0	broad.mit.edu	GRCh37	1	5937354	5937354	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-28-5214-01	TCGA-28-5214-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378156.4:c.2616A>G	p.Lys872=	p.K872=	ENST00000378156	NM_015102.3	872	aaA/aaG	0			1			C	K	uc001alq.1	protein_coding	YES	CCDS44052.1			2616/4281									pancreas(1)	1	c.(2614-2616)AAA>AAG			hmmpanther:PTHR31043:SF3,hmmpanther:PTHR31043	nephroretinin				ENSP00000367398		20/30									COSM3400918	20/30	.		ENST00000378156	Transcript	1		actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	ENSG00000131697	g.chr1:5937354T>C	19104			LOW								--	--	1																																		NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA	1	1			p.K872K	NM_015102	NP_055917			1	NPHP4_HUMAN	NPHP4	HGNC	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)			20	2882	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	UPI00001303E5	872					SNV	NPHP4,synonymous_variant,p.=,ENST00000378156,NM_015102.3;NPHP4,non_coding_transcript_exon_variant,,ENST00000478423,;NPHP4,3_prime_UTR_variant,,ENST00000489180,;NPHP4,3_prime_UTR_variant,,ENST00000378169,;NPHP4,non_coding_transcript_exon_variant,,ENST00000470763,;NPHP4,non_coding_transcript_exon_variant,,ENST00000506941,;NPHP4,upstream_gene_variant,,ENST00000468253,;	uc001alq.1	c.2616A>G	2882/4994	3	3			c.2616A>G						1	SNP	c.(2614-2616)AAA>AAG	63	63			pancreas(1)	1	Broad	nephroretinin			5937354		0.632	ENSG00000131697	10392	g.chr1:5937354T>C	actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity							35.345469	KEEP	5	7	-1	14	5	5	7	-1	35.648411	14	5	0.384615	1	0	0	0	0	0	0	1	0	--	--		0	C			NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA	221	GBM-28-5214-TP	p.K872K	T	GCACCACGTGTTTTCCTGCGA	NM_015102	NP_055917	5937354	O75161	NPHP4_HUMAN	0		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	20	2882	-	C	C	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	Silent	872						
NPHS1	4868	broad.mit.edu	GRCh37	19	36340038	36340038	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378910.5:c.852G>A	p.Pro284=	p.P284=	ENST00000378910	NM_004646.3	284	ccG/ccA	0			1			T	P	uc002oby.2	protein_coding	YES	CCDS32996.1			852/3726									ovary(4)|skin(1)	5	c.(850-852)CCG>CCA			Gene3D:2.60.40.10,Pfam_domain:PF08205,PROSITE_profiles:PS50835,hmmpanther:PTHR11640,hmmpanther:PTHR11640:SF31,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	nephrin precursor				ENSP00000368190		29-Aug	6.59E-05					0.000123			rs763233132,COSM2149093	29-Aug	.		ENST00000378910	Transcript	1		cell adhesion|excretion|muscle organ development	integral to plasma membrane		ENSG00000161270	g.chr19:36340038C>T	7908			LOW								--	--	1																																			0,1	1			p.P284P	NM_004646	NP_004637			0,1	NPHN_HUMAN	NPHS1	HGNC	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)				8	852	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		UPI000004EF61	284			Ig-like C2-type 3.|Extracellular (Potential).		SNV	NPHS1,synonymous_variant,p.=,ENST00000378910,NM_004646.3;NPHS1,synonymous_variant,p.=,ENST00000353632,;NPHS1,downstream_gene_variant,,ENST00000591817,;NPHS1,upstream_gene_variant,,ENST00000585400,;NPHS1,upstream_gene_variant,,ENST00000592132,;	uc002oby.2	c.852G>A	852/4276	1	1			c.852G>A						19	SNP	c.(850-852)CCG>CCA	4	4			ovary(4)|skin(1)	5	Broad	nephrin precursor			36340038		0.677	ENSG00000161270	10393	g.chr19:36340038C>T	cell adhesion|excretion|muscle organ development	integral to plasma membrane								32.725572	KEEP	13	10	-1	27	42	13	10	-1	36.443896	27	42	0.237288	1	0	0	0	0	0	0	1	0	--	--		0	T				5	GBM-02-2470-TP	p.P284P	C	CTGTGGACACCGGCTGGCCAT	NM_004646	NP_004637	36340038	O60500	NPHN_HUMAN	0	LUSC - Lung squamous cell carcinoma(66;0.0515)		8	852	-	T	T	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		Silent	284			Ig-like C2-type 3.|Extracellular (Potential).			
NPHS1	4868	broad.mit.edu	GRCh37	19	36340484	36340484	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378910.5:c.680C>T	p.Pro227Leu	p.P227L	ENST00000378910	NM_004646.3	227	cCc/cTc	0			1			A	P/L	uc002oby.2	protein_coding	YES	CCDS32996.1			680/3726									ovary(4)|skin(1)	5	c.(679-681)CCC>CTC			Gene3D:2.60.40.10,hmmpanther:PTHR11640,hmmpanther:PTHR11640:SF31,Superfamily_domains:SSF48726	nephrin precursor				ENSP00000368190		29-Jun									COSM3404146	29-Jun	.		ENST00000378910	Transcript	1		cell adhesion|excretion|muscle organ development	integral to plasma membrane		ENSG00000161270	g.chr19:36340484G>A	7908			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=NPHN_HUMAN&rb=139&re=228&var=P227L	NA	getma.org/?cm=var&var=hg19,19,36340484,G,A&fts=all	P227L	--	--	1																																			1	1		probably_damaging(0.993)	p.P227L	NM_004646	NP_004637		deleterious(0)	1	NPHN_HUMAN	NPHS1	HGNC	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)				6	680	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		UPI000004EF61	227			Ig-like C2-type 2.|Extracellular (Potential).		SNV	NPHS1,missense_variant,p.Pro227Leu,ENST00000378910,NM_004646.3;NPHS1,missense_variant,p.Pro227Leu,ENST00000353632,;NPHS1,downstream_gene_variant,,ENST00000591817,;NPHS1,upstream_gene_variant,,ENST00000585400,;NPHS1,upstream_gene_variant,,ENST00000592132,;	uc002oby.2	c.680C>T	680/4276	2	2			c.680C>T						19	SNP	c.(679-681)CCC>CTC	21	21			ovary(4)|skin(1)	5	Broad	nephrin precursor			36340484		0.587	ENSG00000161270	10393	g.chr19:36340484G>A	cell adhesion|excretion|muscle organ development	integral to plasma membrane								207.631883	KEEP	28	42	-1	12	18	28	42	-1	210.420775	12	18	0.689655	1	0	0	0	0	1	0	0	0	--	--		0	A				102	GBM-06-5858-TP	p.P227L	G	GGCCTTGATGGGGGCCTCCAG	NM_004646	NP_004637	36340484	O60500	NPHN_HUMAN	0	LUSC - Lung squamous cell carcinoma(66;0.0515)		6	680	-	A	A	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		Missense_Mutation	227			Ig-like C2-type 2.|Extracellular (Potential).			
NPHS1	0	broad.mit.edu	GRCh37	19	36336653	36336653	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01	TCGA-28-5209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378910.5:c.1675C>T	p.Pro559Ser	p.P559S	ENST00000378910	NM_004646.3	559	Ccg/Tcg	0			1			A	P/S	uc002oby.2	protein_coding	YES	CCDS32996.1			1675/3726									ovary(4)|skin(1)	5	c.(1675-1677)CCG>TCG			Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR11640,hmmpanther:PTHR11640:SF31,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	nephrin precursor				ENSP00000368190		13/29									COSM3404145	13/29	.		ENST00000378910	Transcript	1		cell adhesion|excretion|muscle organ development	integral to plasma membrane		ENSG00000161270	g.chr19:36336653G>A	7908			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=NPHN_HUMAN&rb=548&re=634&var=P559S	NA	getma.org/?cm=var&var=hg19,19,36336653,G,A&fts=all	P559S	--	--	1																																			1	1		benign(0.101)	p.P559S	NM_004646	NP_004637		tolerated(0.25)	1	NPHN_HUMAN	NPHS1	HGNC	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)				13	1675	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		UPI000004EF61	559			Ig-like C2-type 6.|Extracellular (Potential).		SNV	NPHS1,missense_variant,p.Pro559Ser,ENST00000378910,NM_004646.3;NPHS1,missense_variant,p.Pro559Ser,ENST00000353632,;NPHS1,upstream_gene_variant,,ENST00000585400,;NPHS1,downstream_gene_variant,,ENST00000592132,;	uc002oby.2	c.1675C>T	1675/4276	1	1			c.1675C>T						19	SNP	c.(1675-1677)CCG>TCG	55	55			ovary(4)|skin(1)	5	Broad	nephrin precursor			36336653		0.622	ENSG00000161270	10393	g.chr19:36336653G>A	cell adhesion|excretion|muscle organ development	integral to plasma membrane								63.556255	KEEP	15	14	-1	37	40	15	14	-1	68.151014	37	40	0.263736	1	0	0	0	0	1	0	0	0	--	--		0	A				218	GBM-28-5209-TP	p.P559S	G	GCGTCTCCCGGGCGCAGTGCG	NM_004646	NP_004637	36336653	O60500	NPHN_HUMAN	0	LUSC - Lung squamous cell carcinoma(66;0.0515)		13	1675	-	A	A	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		Missense_Mutation	559			Ig-like C2-type 6.|Extracellular (Potential).			
NPHS2	0	broad.mit.edu	GRCh37	1	179520378	179520378	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-2625-01	TCGA-19-2625-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367615.4:c.1082T>C	p.Leu361Pro	p.L361P	ENST00000367615	NM_014625.2	361	cTc/cCc	0			1			G	L/P	uc001gmq.3	protein_coding	YES	CCDS1331.1			1082/1152										0	c.(1081-1083)CTC>CCC			hmmpanther:PTHR10264,hmmpanther:PTHR10264:SF23	podocin				ENSP00000356587		8-Aug									COSM3747815	8-Aug	.		ENST00000367615	Transcript	1		excretion	integral to plasma membrane	protein binding	ENSG00000116218	g.chr1:179520378A>G	13394			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=PODO_HUMAN&rb=302&re=383&var=L361P	NA	getma.org/?cm=var&var=hg19,1,179520378,A,G&fts=all	L361P	--	--	1																																		C1orf125_uc009wxg.2_Intron|C1orf125_uc001gmo.2_Intron|C1orf125_uc001gmp.2_Intron|C1orf125_uc009wxh.2_Intron|NPHS2_uc009wxi.2_Missense_Mutation_p.L293P|C1orf125_uc001gmr.2_RNA	1	1		benign(0.193)	p.L361P	NM_014625	NP_055440		tolerated(0.18)	1	PODO_HUMAN	NPHS2	HGNC	Q9NP85	PODO_HUMAN					8	1167	-			UPI000003F549	361			Cytoplasmic (Potential).		SNV	NPHS2,missense_variant,p.Leu361Pro,ENST00000367615,NM_014625.2;NPHS2,missense_variant,p.Leu293Pro,ENST00000367616,;AXDND1,intron_variant,,ENST00000367618,NM_144696.5;AXDND1,intron_variant,,ENST00000434088,;RP11-545A16.1,upstream_gene_variant,,ENST00000569644,;AXDND1,non_coding_transcript_exon_variant,,ENST00000489080,;AXDND1,intron_variant,,ENST00000484883,;AXDND1,intron_variant,,ENST00000484455,;AXDND1,intron_variant,,ENST00000511157,;	uc001gmq.3	c.1082T>C	1151/1855	3	3			c.1082T>C						1	SNP	c.(1081-1083)CTC>CCC	57	57				0	Broad	podocin			179520378		0.473	ENSG00000116218	10394	g.chr1:179520378A>G	excretion	integral to plasma membrane	protein binding							79.818626	KEEP	21	16	-1	69	47	21	16	-1	89.5522	69	47	0.218045	1	0	0	0	0	1	0	0	0	--	--		0	G			C1orf125_uc009wxg.2_Intron|C1orf125_uc001gmo.2_Intron|C1orf125_uc001gmp.2_Intron|C1orf125_uc009wxh.2_Intron|NPHS2_uc009wxi.2_Missense_Mutation_p.L293P|C1orf125_uc001gmr.2_RNA	165	GBM-19-2625-TP	p.L361P	A	TGGGAAGGGGAGGCTTCCCTG	NM_014625	NP_055440	179520378	Q9NP85	PODO_HUMAN	0			8	1167	-	G	G			Missense_Mutation	361			Cytoplasmic (Potential).			
NPNT	255743	broad.mit.edu	GRCh37	4	106863540	106863540	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0648-01	TCGA-06-0648-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000427316.2:c.930C>A	p.Asp310Glu	p.D310E	ENST00000427316	NM_001184691.1	310	gaC/gaA	0			1			A	D/E	uc003hya.2	protein_coding		CCDS34046.1			840/1698									skin(1)	1	c.(838-840)GAC>GAA			hmmpanther:PTHR24050,hmmpanther:PTHR24050:SF19	nephronectin precursor				ENSP00000369323		12-Aug									COSM3408971,COSM3408972	12-Aug	.		ENST00000379987	Transcript			cell differentiation	membrane	calcium ion binding	ENSG00000168743	g.chr4:106863540C>A	27405			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=NPNT_HUMAN&rb=254&re=421&var=D280E	NA	getma.org/?cm=var&var=hg19,4,106863540,C,A&fts=all	D280E	--	--	1																																		NPNT_uc011cfc.1_Missense_Mutation_p.D297E|NPNT_uc011cfd.1_Missense_Mutation_p.D310E|NPNT_uc011cfe.1_Missense_Mutation_p.D310E|NPNT_uc010ilt.1_Missense_Mutation_p.D280E|NPNT_uc011cff.1_Missense_Mutation_p.D280E|NPNT_uc010ilu.1_Missense_Mutation_p.D176E	1,1			benign(0.103)	p.D280E	NM_001033047	NP_001028219		tolerated(0.3)	1,1	NPNT_HUMAN	NPNT	HGNC	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	D6RE63_HUMAN		8	1045	+		Hepatocellular(203;0.217)	UPI00001612DF	280					SNV	NPNT,missense_variant,p.Asp280Glu,ENST00000379987,NM_001033047.2;NPNT,missense_variant,p.Asp280Glu,ENST00000305572,NM_001184692.1;NPNT,missense_variant,p.Asp310Glu,ENST00000427316,NM_001184691.1;NPNT,missense_variant,p.Asp297Glu,ENST00000453617,NM_001184690.1;NPNT,missense_variant,p.Asp280Glu,ENST00000514622,;NPNT,missense_variant,p.Asp310Glu,ENST00000506666,NM_001184693.1;NPNT,missense_variant,p.Asp327Glu,ENST00000503451,;NPNT,missense_variant,p.Asp257Glu,ENST00000514837,;NPNT,downstream_gene_variant,,ENST00000504304,;NPNT,downstream_gene_variant,,ENST00000513430,;NPNT,downstream_gene_variant,,ENST00000505821,;NPNT,downstream_gene_variant,,ENST00000506056,;	uc003hya.2	c.840C>A	1056/4598	2	2			c.840C>A						4	SNP	c.(838-840)GAC>GAA	45	45			skin(1)	1	Broad	nephronectin precursor			106863540		0.393	ENSG00000168743	10401	g.chr4:106863540C>A	cell differentiation	membrane	calcium ion binding							-5.041845	KEEP	4	7	0.636363636	64	75	4	7	0.636363636	21.779711	64	75	0.065693	1	0	0	0	0	1	0	0	0	--	--		0	A			NPNT_uc011cfc.1_Missense_Mutation_p.D297E|NPNT_uc011cfd.1_Missense_Mutation_p.D310E|NPNT_uc011cfe.1_Missense_Mutation_p.D310E|NPNT_uc010ilt.1_Missense_Mutation_p.D280E|NPNT_uc011cff.1_Missense_Mutation_p.D280E|NPNT_uc010ilu.1_Missense_Mutation_p.D176E	61	GBM-06-0648-TP	p.D280E	C	TAAAGGGTGACACAGGAAATA	NM_001033047	NP_001028219	106863540	Q6UXI9	NPNT_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	8	1045	+	A	A		Hepatocellular(203;0.217)	Missense_Mutation	280						
NPNT	255743		GRCh37	4	106888371	106888371	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0167-01	TCGA-06-0167-01																				ENST00000427316.2:c.1462G>A	p.Ala488Thr	p.A488T	ENST00000427316	NM_001184691.1	488	Gcc/Acc	0																																																																																																																																																																																																																																												
NPPA	0	broad.mit.edu	GRCh37	1	11907662	11907662	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-28-6450-01	TCGA-28-6450-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376480.3:c.80C>G	p.Pro27Arg	p.P27R	ENST00000376480	NM_006172.3	27	cCc/cGc	0			1			C	P/R	uc001ati.2	protein_coding	YES	CCDS139.1			80/456									ovary(1)|central_nervous_system(1)	2	c.(79-81)CCC>CGC			Prints_domain:PR00711,hmmpanther:PTHR14066,hmmpanther:PTHR14066:SF2	natriuretic peptide precursor A preproprotein				ENSP00000365663		3-Jan	8.24E-06							6.06E-05	rs746272754,COSM3399595	3-Jan	.		ENST00000376480	Transcript	1		cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity	ENSG00000175206	g.chr1:11907662G>C	7939			MODERATE		2.885	medium	getma.org/?cm=msa&ty=f&p=ANF_HUMAN&rb=1&re=113&var=P27R	NA	getma.org/?cm=var&var=hg19,1,11907662,G,C&fts=all	P27R	--	--	1																																		CLCN6_uc010oav.1_RNA|CLCN6_uc010oaw.1_RNA|CLCN6_uc010oax.1_RNA|CLCN6_uc010oay.1_RNA|CLCN6_uc010oaz.1_RNA|CLCN6_uc010oba.1_RNA	0,1	1		probably_damaging(0.999)	p.P27R	NM_006172	NP_006163		deleterious(0)	0,1	ANF_HUMAN	NPPA	HGNC	P01160	ANF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	B0ZBE8_HUMAN		1	179	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)	UPI000000DCD4	27					SNV	NPPA,missense_variant,p.Pro27Arg,ENST00000376480,NM_006172.3;NPPA,intron_variant,,ENST00000376476,;CLCN6,downstream_gene_variant,,ENST00000346436,NM_001286.3;CLCN6,downstream_gene_variant,,ENST00000312413,;NPPA-AS1,non_coding_transcript_exon_variant,,ENST00000446542,;NPPA-AS1,non_coding_transcript_exon_variant,,ENST00000400892,;	uc001ati.2	c.80C>G	179/855	3	3			c.80C>G						1	SNP	c.(79-81)CCC>CGC	13	13			ovary(1)|central_nervous_system(1)	2	Broad	natriuretic peptide precursor A preproprotein			11907662		0.567	ENSG00000175206	10402	g.chr1:11907662G>C	cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity							-38.035156	KEEP	21	24	-1	293	326	21	24	-1	81.134947	293	326	0.06457	1	0	0	0	0	1	0	0	0	--	--		0	C			CLCN6_uc010oav.1_RNA|CLCN6_uc010oaw.1_RNA|CLCN6_uc010oax.1_RNA|CLCN6_uc010oay.1_RNA|CLCN6_uc010oaz.1_RNA|CLCN6_uc010oba.1_RNA	227	GBM-28-6450-TP	p.P27R	G	ATTGTACATGGGATTAGCTCT	NM_006172	NP_006163	11907662	P01160	ANF_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	179	-	C	C	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)	Missense_Mutation	27						
NPR1	4881	broad.mit.edu	GRCh37	1	153660684	153660684	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0190-01	TCGA-06-0190-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368680.3:c.2404C>T	p.Arg802Cys	p.R802C	ENST00000368680	NM_000906.3	802	Cgc/Tgc	0	T:0		1			T	R/C	uc001fcs.3	protein_coding	YES	CCDS1051.1			2404/3186									ovary(3)|lung(2)|stomach(1)|breast(1)	7	c.(2404-2406)CGC>TGC			PROSITE_profiles:PS50011,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF232,Gene3D:1.10.510.10,Superfamily_domains:SSF56112	natriuretic peptide receptor 1 precursor	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)		T:0.0001	ENSP00000357669		15/22	1.65E-05					3.02E-05			rs368538785,COSM3376733	15/22	.		ENST00000368680	Transcript			body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	ENSG00000169418	g.chr1:153660684C>T	7943			MODERATE		3.23	medium	getma.org/?cm=msa&ty=f&p=ANPRA_HUMAN&rb=528&re=805&var=R802C	getma.org/pdb.php?prot=ANPRA_HUMAN&from=528&to=805&var=R802C	getma.org/?cm=var&var=hg19,1,153660684,C,T&fts=all	R802C	--	--	1																																		NPR1_uc010pdz.1_Missense_Mutation_p.R548C|NPR1_uc010pea.1_Missense_Mutation_p.R280C	0,1	1		probably_damaging(0.931)	p.R802C	NM_000906	NP_000897		deleterious(0.01)	0,1	ANPRA_HUMAN	NPR1	HGNC	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)				15	2825	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		UPI0000125B3D	802			Cytoplasmic (Potential).|Protein kinase.		SNV	NPR1,missense_variant,p.Arg802Cys,ENST00000368680,NM_000906.3;NPR1,upstream_gene_variant,,ENST00000368677,;	uc001fcs.3	c.2404C>T	2876/4236	1	1			c.2404C>T						1	SNP	c.(2404-2406)CGC>TGC	14	14			ovary(3)|lung(2)|stomach(1)|breast(1)	7	Broad	natriuretic peptide receptor 1 precursor		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	153660684		0.587	ENSG00000169418	10405	g.chr1:153660684C>T	body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	Pancreas(141;1349 1870 15144 15830 40702)		382	Pancreas(141;1349 1870 15144 15830 40702)		382	103.901298	KEEP	23	22	-1	67	54	23	22	-1	109.377882	67	54	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	T			NPR1_uc010pdz.1_Missense_Mutation_p.R548C|NPR1_uc010pea.1_Missense_Mutation_p.R280C	43	GBM-06-0190-TP	p.R802C	C	CCTGACGTTGCGCAAATTTAA	NM_000906	NP_000897	153660684	P16066	ANPRA_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.151)		15	2825	+	T	T	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		Missense_Mutation	802			Cytoplasmic (Potential).|Protein kinase.			
NPR2	0	broad.mit.edu	GRCh37	9	35808664	35808664	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342694.2:c.2871C>T	p.Arg957=	p.R957=	ENST00000342694	NM_003995.3	957	cgC/cgT	0			1			T	R	uc003zyd.2	protein_coding	YES	CCDS6590.1			2871/3144									ovary(2)|stomach(1)	3	c.(2869-2871)CGC>CGT			Gene3D:3.30.70.1230,Pfam_domain:PF00211,PROSITE_profiles:PS50125,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF231,SMART_domains:SM00044,Superfamily_domains:SSF55073	natriuretic peptide receptor B precursor	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)			ENSP00000341083		19/22									COSM3413646,COSM3413645	19/22	.		ENST00000342694	Transcript	1		intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	ENSG00000159899	g.chr9:35808664C>T	7944			LOW								--	--	1																																		NPR2_uc010mlb.2_Silent_p.R933R|SPAG8_uc003zye.2_Intron	1,1	1			p.R957R	NM_003995	NP_003986			1,1	ANPRB_HUMAN	NPR2	HGNC	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)				19	2871	+	all_epithelial(49;0.161)		UPI0000125B42	957		R -> C (in AMDM).	Guanylate cyclase.|Cytoplasmic (Potential).		SNV	NPR2,synonymous_variant,p.=,ENST00000342694,NM_003995.3;SPAG8,intron_variant,,ENST00000340291,NM_172312.1;NPR2,intron_variant,,ENST00000447210,;SPAG8,downstream_gene_variant,,ENST00000484764,;SPAG8,downstream_gene_variant,,ENST00000396638,NM_001039592.1;SPAG8,downstream_gene_variant,,ENST00000497810,;NPR2,downstream_gene_variant,,ENST00000421267,;HINT2,downstream_gene_variant,,ENST00000259667,NM_032593.2;AL133410.1,downstream_gene_variant,,ENST00000582432,;SPAG8,intron_variant,,ENST00000463889,;SPAG8,intron_variant,,ENST00000489063,;HINT2,downstream_gene_variant,,ENST00000474908,;SPAG8,downstream_gene_variant,,ENST00000479751,;HINT2,downstream_gene_variant,,ENST00000474848,;HINT2,downstream_gene_variant,,ENST00000461169,;HINT2,downstream_gene_variant,,ENST00000490578,;HINT2,downstream_gene_variant,,ENST00000472085,;HINT2,downstream_gene_variant,,ENST00000471774,;NPR2,non_coding_transcript_exon_variant,,ENST00000464810,;NPR2,non_coding_transcript_exon_variant,,ENST00000469249,;SPAG8,intron_variant,,ENST00000475644,;NPR2,intron_variant,,ENST00000448821,;SPAG8,intron_variant,,ENST00000460836,;SPAG8,downstream_gene_variant,,ENST00000472605,;SPAG8,downstream_gene_variant,,ENST00000495667,;SPAG8,downstream_gene_variant,,ENST00000471631,;	uc003zyd.2	c.2871C>T	3126/3686	1	1			c.2871C>T						9	SNP	c.(2869-2871)CGC>CGT	11	11			ovary(2)|stomach(1)	3	Broad	natriuretic peptide receptor B precursor		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	35808664		0.542	ENSG00000159899	10406	g.chr9:35808664C>T	intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			170			170	148.544887	KEEP	35	28	-1	53	61	35	28	-1	151.499822	53	61	0.35443	1	0	0	0	0	0	0	1	0	--	--		0	T			NPR2_uc010mlb.2_Silent_p.R933R|SPAG8_uc003zye.2_Intron	271	GBM-76-4932-TP	p.R957R	C	TGAGGCTACGCATAGGGGTCC	NM_003995	NP_003986	35808664	P20594	ANPRB_HUMAN	0	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		19	2871	+	T	T	all_epithelial(49;0.161)		Silent	957		R -> C (in AMDM).	Guanylate cyclase.|Cytoplasmic (Potential).			
NPR3	0	broad.mit.edu	GRCh37	5	32739137	32739137	+	splice_donor_variant	Splice_Site	SNP	G	G	A			TCGA-32-1991-01	TCGA-32-1991-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265074.8:c.1059+1G>A		p.X353_splice	ENST00000265074	NM_001204375.1			0			1			A		uc003jhv.2	protein_coding	YES	CCDS56357.1			1059/1626									ovary(1)|central_nervous_system(1)	2	c.e3+1				natriuretic peptide receptor C/guanylate cyclase	Nesiritide(DB04899)			ENSP00000265074			8.28E-06					1.50E-05			rs752059527,COSM236181,COSM3410237		.		ENST00000265074	Transcript			osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	ENSG00000113389	g.chr5:32739137G>A	7945			HIGH	7-Mar							--	--	1																																		NPR3_uc010iuo.2_Splice_Site_p.Y137_splice|NPR3_uc011cnz.1_Splice_Site_p.Y137_splice|NPR3_uc003jhu.2_Splice_Site_p.Y353_splice	0,1,1	1			p.Y353_splice	NM_000908	NP_000899			0,1,1	ANPRC_HUMAN	NPR3	HGNC	P17342	ANPRC_HUMAN					3	1277	+			UPI0000125B46						SNV	NPR3,splice_donor_variant,,ENST00000265074,NM_001204375.1,NM_000908.3;NPR3,splice_donor_variant,,ENST00000434067,;NPR3,splice_donor_variant,,ENST00000415167,;NPR3,splice_donor_variant,,ENST00000415685,NM_001204376.1;NPR3,splice_donor_variant,,ENST00000509104,;NPR3,splice_donor_variant,,ENST00000506712,;	uc003jhv.2	c.1059_splice	-/7337	5	1			c.1059_splice						5	SNP	c.e3+1	63	63			ovary(1)|central_nervous_system(1)	2	Broad	natriuretic peptide receptor C/guanylate cyclase		Nesiritide(DB04899)	32739137		0.408	ENSG00000113389	10407	g.chr5:32739137G>A	osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity							173.79375	KEEP	25	41	-1	55	70	25	41	-1	176.537669	55	70	0.363095	1	0	0	0	0	0	0	0	1	--	--		0	A			NPR3_uc010iuo.2_Splice_Site_p.Y137_splice|NPR3_uc011cnz.1_Splice_Site_p.Y137_splice|NPR3_uc003jhu.2_Splice_Site_p.Y353_splice	234	GBM-32-1991-TP	p.Y353_splice	G	GGAGGATTACGTAAGTGCCTG	NM_000908	NP_000899	32739137	P17342	ANPRC_HUMAN	0			3	1277	+	A	A			Splice_Site							
NPR3	0	broad.mit.edu	GRCh37	5	32724903	32724903	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-4934-01	TCGA-76-4934-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265074.8:c.869A>G	p.Glu290Gly	p.E290G	ENST00000265074	NM_001204375.1	290	gAg/gGg	0			1			G	E/G	uc003jhv.2	protein_coding	YES	CCDS56357.1			869/1626									ovary(1)|central_nervous_system(1)	2	c.(868-870)GAG>GGG			Superfamily_domains:SSF53822,Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF2	natriuretic peptide receptor C/guanylate cyclase	Nesiritide(DB04899)			ENSP00000265074		8-Feb									COSM3410236,COSM3410235	8-Feb	.		ENST00000265074	Transcript			osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	ENSG00000113389	g.chr5:32724903A>G	7945			MODERATE		2.61	medium	getma.org/?cm=msa&ty=f&p=ANPRC_HUMAN&rb=71&re=424&var=E290G	getma.org/pdb.php?prot=ANPRC_HUMAN&from=71&to=424&var=E290G	getma.org/?cm=var&var=hg19,5,32724903,A,G&fts=all	E290G	--	--	1																																		NPR3_uc010iuo.2_Missense_Mutation_p.E74G|NPR3_uc011cnz.1_Missense_Mutation_p.E74G|NPR3_uc003jhu.2_Missense_Mutation_p.E290G	1,1	1		probably_damaging(0.997)	p.E290G	NM_000908	NP_000899		deleterious(0)	1,1	ANPRC_HUMAN	NPR3	HGNC	P17342	ANPRC_HUMAN					2	1087	+			UPI0000125B46	290			Extracellular (Potential).		SNV	NPR3,missense_variant,p.Glu290Gly,ENST00000265074,NM_001204375.1,NM_000908.3;NPR3,missense_variant,p.Glu74Gly,ENST00000434067,;NPR3,missense_variant,p.Glu290Gly,ENST00000415167,;NPR3,missense_variant,p.Glu74Gly,ENST00000415685,NM_001204376.1;NPR3,missense_variant,p.Glu67Gly,ENST00000509104,;NPR3,non_coding_transcript_exon_variant,,ENST00000506712,;	uc003jhv.2	c.869A>G	1212/7337	3	3			c.869A>G						5	SNP	c.(868-870)GAG>GGG	52	52			ovary(1)|central_nervous_system(1)	2	Broad	natriuretic peptide receptor C/guanylate cyclase		Nesiritide(DB04899)	32724903		0.473	ENSG00000113389	10407	g.chr5:32724903A>G	osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity							-28.199689	KEEP	1	3	-1	69	78	1	3	-1	6.767266	69	78	0.021898	1	0	0	0	0	1	0	0	0	--	--		0	G			NPR3_uc010iuo.2_Missense_Mutation_p.E74G|NPR3_uc011cnz.1_Missense_Mutation_p.E74G|NPR3_uc003jhu.2_Missense_Mutation_p.E290G	272	GBM-76-4934-TP	p.E290G	A	TTCAACATTGAGCTCTTCAAC	NM_000908	NP_000899	32724903	P17342	ANPRC_HUMAN	0			2	1087	+	G	G			Missense_Mutation	290			Extracellular (Potential).			
NPR3	4883		GRCh37	5	32774858	32774858	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000265074.8:c.1104C>T	p.Tyr368=	p.Y368=	ENST00000265074	NM_001204375.1	368	taC/taT	0																																																																																																																																																																																																																																												
NPRL2	10641	broad.mit.edu	GRCh37	3	50387203	50387203	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01	TCGA-02-0003-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000232501.3:c.232C>T	p.Arg78Cys	p.R78C	ENST00000232501	NM_006545.4	78	Cgc/Tgc	0			1			A	R/C	uc003daj.1	protein_coding	YES	CCDS2826.1			232/1143									lung(1)	1	c.(232-234)CGC>TGC			Pfam_domain:PF06218,hmmpanther:PTHR12991,hmmpanther:PTHR12991:SF10	tumor suppressor candidate 4				ENSP00000232501		11-Mar									COSM2148927	11-Mar	.		ENST00000232501	Transcript			negative regulation of kinase activity		protein binding|protein kinase activity	ENSG00000114388	g.chr3:50387203G>A	24969			MODERATE		3.32	medium	getma.org/?cm=msa&ty=f&p=NPRL2_HUMAN&rb=2&re=380&var=R78C	NA	getma.org/?cm=var&var=hg19,3,50387203,G,A&fts=all	R78C	--	--	1																																		NPRL2_uc003dai.1_5'UTR|CYB561D2_uc003dak.2_5'Flank|CYB561D2_uc003dal.2_5'Flank|CYB561D2_uc003dam.2_5'Flank	1	1		probably_damaging(1)	p.R78C	NM_006545	NP_006536		deleterious(0)	1	NPRL2_HUMAN	NPRL2	HGNC	Q8WTW4	NPRL2_HUMAN			F2Z3D4_HUMAN		3	635	-			UPI0000072BFE	78			Interaction with PDPK1.		SNV	NPRL2,missense_variant,p.Arg78Cys,ENST00000232501,NM_006545.4;ZMYND10,upstream_gene_variant,,ENST00000231749,NM_015896.2;TMEM115,downstream_gene_variant,,ENST00000266025,NM_007024.4;ZMYND10,upstream_gene_variant,,ENST00000360165,;CYB561D2,upstream_gene_variant,,ENST00000418577,;CYB561D2,upstream_gene_variant,,ENST00000425346,;CYB561D2,upstream_gene_variant,,ENST00000232508,NM_007022.3;CYB561D2,upstream_gene_variant,,ENST00000424512,;ZMYND10,upstream_gene_variant,,ENST00000442887,;XXcos-LUCA11.5,upstream_gene_variant,,ENST00000606589,;ZMYND10-AS1,downstream_gene_variant,,ENST00000440013,;CYB561D2,upstream_gene_variant,,ENST00000419046,;CYB561D2,upstream_gene_variant,,ENST00000490926,;NPRL2,upstream_gene_variant,,ENST00000493465,;ZMYND10,upstream_gene_variant,,ENST00000468182,;NPRL2,missense_variant,p.Pro76Leu,ENST00000451194,;NPRL2,missense_variant,p.Pro76Leu,ENST00000433381,;NPRL2,missense_variant,p.Pro76Leu,ENST00000418825,;NPRL2,missense_variant,p.Pro76Leu,ENST00000448302,;NPRL2,3_prime_UTR_variant,,ENST00000433999,;NPRL2,non_coding_transcript_exon_variant,,ENST00000467294,;NPRL2,non_coding_transcript_exon_variant,,ENST00000480296,;NPRL2,non_coding_transcript_exon_variant,,ENST00000461020,;NPRL2,non_coding_transcript_exon_variant,,ENST00000487632,;NPRL2,non_coding_transcript_exon_variant,,ENST00000479512,;NPRL2,non_coding_transcript_exon_variant,,ENST00000476064,;NPRL2,non_coding_transcript_exon_variant,,ENST00000469839,;NPRL2,non_coding_transcript_exon_variant,,ENST00000493907,;NPRL2,intron_variant,,ENST00000429366,;NPRL2,upstream_gene_variant,,ENST00000492805,;ZMYND10,upstream_gene_variant,,ENST00000443080,;ZMYND10,upstream_gene_variant,,ENST00000431869,;	uc003daj.1	c.232C>T	671/1700	2	2			c.232C>T						3	SNP	c.(232-234)CGC>TGC	47	47			lung(1)	1	Broad	tumor suppressor candidate 4			50387203		0.547	ENSG00000114388	10408	g.chr3:50387203G>A	negative regulation of kinase activity		protein binding|protein kinase activity		(HEC59-Tumor)|(KELLY-Tumor)	248		(HEC59-Tumor)|(KELLY-Tumor)	248	246.153759	KEEP	51	55	-1	130	154	51	55	-1	261.353799	130	154	0.278261	1	0	0	0	0	1	0	0	0	--	--		0	A			NPRL2_uc003dai.1_5'UTR|CYB561D2_uc003dak.2_5'Flank|CYB561D2_uc003dal.2_5'Flank|CYB561D2_uc003dam.2_5'Flank	1	GBM-02-0003-TP	p.R78C	G	AGAGCATTGCGGCTGTACTTC	NM_006545	NP_006536	50387203	Q8WTW4	NPRL2_HUMAN	0			3	635	-	A	A			Missense_Mutation	78			Interaction with PDPK1.			
NPRL2	0	broad.mit.edu	GRCh37	3	50385755	50385755	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-5139-01	TCGA-26-5139-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000232501.3:c.807C>T	p.Thr269=	p.T269=	ENST00000232501	NM_006545.4	269	acC/acT	0			1			A	T	uc003daj.1	protein_coding	YES	CCDS2826.1			807/1143									lung(1)	1	c.(805-807)ACC>ACT			Pfam_domain:PF06218,hmmpanther:PTHR12991,hmmpanther:PTHR12991:SF10	tumor suppressor candidate 4				ENSP00000232501		11-Aug									COSM2157203	11-Aug	.		ENST00000232501	Transcript			negative regulation of kinase activity		protein binding|protein kinase activity	ENSG00000114388	g.chr3:50385755G>A	24969			LOW								--	--	1																																		ZMYND10_uc003dag.1_5'Flank|ZMYND10_uc010hll.1_5'Flank|ZMYND10_uc003dah.1_5'Flank|ZMYND10_uc010hlm.1_5'Flank|NPRL2_uc003dai.1_Silent_p.T149T|CYB561D2_uc003dak.2_5'Flank|CYB561D2_uc003dal.2_5'Flank|CYB561D2_uc003dam.2_5'Flank	1	1			p.T269T	NM_006545	NP_006536			1	NPRL2_HUMAN	NPRL2	HGNC	Q8WTW4	NPRL2_HUMAN			F2Z3D4_HUMAN		8	1210	-			UPI0000072BFE	269					SNV	NPRL2,synonymous_variant,p.=,ENST00000232501,NM_006545.4;ZMYND10,upstream_gene_variant,,ENST00000231749,NM_015896.2;ZMYND10,upstream_gene_variant,,ENST00000360165,;CYB561D2,upstream_gene_variant,,ENST00000418577,;CYB561D2,upstream_gene_variant,,ENST00000425346,;CYB561D2,upstream_gene_variant,,ENST00000232508,NM_007022.3;CYB561D2,upstream_gene_variant,,ENST00000424512,;ZMYND10,upstream_gene_variant,,ENST00000442887,;XXcos-LUCA11.5,upstream_gene_variant,,ENST00000606589,;ZMYND10-AS1,downstream_gene_variant,,ENST00000440013,;NPRL2,intron_variant,,ENST00000493465,;CYB561D2,upstream_gene_variant,,ENST00000419046,;CYB561D2,upstream_gene_variant,,ENST00000490926,;ZMYND10,upstream_gene_variant,,ENST00000468182,;NPRL2,3_prime_UTR_variant,,ENST00000451194,;NPRL2,3_prime_UTR_variant,,ENST00000433381,;NPRL2,3_prime_UTR_variant,,ENST00000429366,;NPRL2,3_prime_UTR_variant,,ENST00000418825,;NPRL2,3_prime_UTR_variant,,ENST00000433999,;NPRL2,3_prime_UTR_variant,,ENST00000448302,;NPRL2,non_coding_transcript_exon_variant,,ENST00000467294,;NPRL2,non_coding_transcript_exon_variant,,ENST00000480296,;NPRL2,non_coding_transcript_exon_variant,,ENST00000461020,;NPRL2,non_coding_transcript_exon_variant,,ENST00000487632,;NPRL2,non_coding_transcript_exon_variant,,ENST00000479512,;NPRL2,non_coding_transcript_exon_variant,,ENST00000476064,;NPRL2,non_coding_transcript_exon_variant,,ENST00000492805,;NPRL2,downstream_gene_variant,,ENST00000469839,;NPRL2,downstream_gene_variant,,ENST00000493907,;ZMYND10,upstream_gene_variant,,ENST00000443080,;ZMYND10,upstream_gene_variant,,ENST00000478269,;ZMYND10,upstream_gene_variant,,ENST00000431869,;	uc003daj.1	c.807C>T	1246/1700	2	2			c.807C>T						3	SNP	c.(805-807)ACC>ACT	42	42			lung(1)	1	Broad	tumor suppressor candidate 4			50385755		0.577	ENSG00000114388	10408	g.chr3:50385755G>A	negative regulation of kinase activity		protein binding|protein kinase activity			248			248	93.431374	KEEP	20	19	-1	39	33	20	19	-1	95.234781	39	33	0.359223	1	0	0	0	0	0	0	1	0	--	--		0	A			ZMYND10_uc003dag.1_5'Flank|ZMYND10_uc010hll.1_5'Flank|ZMYND10_uc003dah.1_5'Flank|ZMYND10_uc010hlm.1_5'Flank|NPRL2_uc003dai.1_Silent_p.T149T|CYB561D2_uc003dak.2_5'Flank|CYB561D2_uc003dal.2_5'Flank|CYB561D2_uc003dam.2_5'Flank	186	GBM-26-5139-TP	p.T269T	G	TACCTTGCTTGGTCACGTAGG	NM_006545	NP_006536	50385755	Q8WTW4	NPRL2_HUMAN	0			8	1210	-	A	A			Silent	269						
NPRL3	8131	broad.mit.edu	GRCh37	16	167362	167362	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0213-01	TCGA-06-0213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399953.3:c.331G>C	p.Asp111His	p.D111H	ENST00000399953	NM_001243247.1	111	Gat/Cat	0			1			G	D/H	uc002cfr.2	protein_coding	YES				331/1707									ovary(1)	1	c.(331-333)GAT>CAT			hmmpanther:PTHR13153,Pfam_domain:PF03666	conserved gene telomeric to alpha globin cluster				ENSP00000382834		14-Apr									COSM3402111,COSM3402112	14-Apr	.		ENST00000399953	Transcript					protein binding	ENSG00000103148	g.chr16:167362C>G	14124			MODERATE								--	--	1																																		NPRL3_uc010uua.1_Intron|NPRL3_uc002cfp.1_RNA|NPRL3_uc002cfq.2_Intron|NPRL3_uc010uub.1_Intron|NPRL3_uc010uuc.1_Missense_Mutation_p.D33H|NPRL3_uc002cfs.1_Intron	1,1	1		probably_damaging(0.927)	p.D111H	NM_001077350	NP_001070818		deleterious(0.01)	1,1	NPRL3_HUMAN	NPRL3	HGNC	Q12980	NPRL3_HUMAN					5	430	-			UPI00004568D2	111					SNV	NPRL3,missense_variant,p.Asp111His,ENST00000399953,NM_001243247.1,NM_001243248.1,NM_001077350.2,NM_001243249.1;NPRL3,missense_variant,p.Asp124His,ENST00000419636,;NPRL3,intron_variant,,ENST00000399951,NM_001039476.2;NPRL3,non_coding_transcript_exon_variant,,ENST00000405960,;NPRL3,non_coding_transcript_exon_variant,,ENST00000468260,;NPRL3,non_coding_transcript_exon_variant,,ENST00000473674,;NPRL3,intron_variant,,ENST00000428323,;NPRL3,missense_variant,p.Gln67His,ENST00000445810,;NPRL3,3_prime_UTR_variant,,ENST00000457916,;NPRL3,3_prime_UTR_variant,,ENST00000483663,;NPRL3,intron_variant,,ENST00000399957,;NPRL3,intron_variant,,ENST00000456528,;NPRL3,intron_variant,,ENST00000422814,;	uc002cfr.2	c.331G>C	734/3008	4	4			c.331G>C						16	SNP	c.(331-333)GAT>CAT	17	17			ovary(1)	1	Broad	conserved gene telomeric to alpha globin cluster			167362		0.393	ENSG00000103148	10409	g.chr16:167362C>G			protein binding							14.461132	KEEP	2	4	-1	8	12	2	4	-1	16.351906	8	12	0.208333	1	0	0	0	0	1	0	0	0	--	--		0	G			NPRL3_uc010uua.1_Intron|NPRL3_uc002cfp.1_RNA|NPRL3_uc002cfq.2_Intron|NPRL3_uc010uub.1_Intron|NPRL3_uc010uuc.1_Missense_Mutation_p.D33H|NPRL3_uc002cfs.1_Intron	49	GBM-06-0213-TP	p.D111H	C	GGGGAAGGATCTGTTTTGGAG	NM_001077350	NP_001070818	167362	Q12980	NPRL3_HUMAN	0			5	430	-	G	G			Missense_Mutation	111						
NPTX1	4884	broad.mit.edu	GRCh37	17	78447110	78447110	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0650-01	TCGA-06-0650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306773.4:c.787G>A	p.Ala263Thr	p.A263T	ENST00000306773	NM_002522.3	263	Gcc/Acc	0			1			T	A/T	uc002jyp.1	protein_coding	YES	CCDS32762.1			787/1299										0	c.(787-789)GCC>ACC			Gene3D:2.60.120.200,Pfam_domain:PF00354,Prints_domain:PR00895,hmmpanther:PTHR19277,hmmpanther:PTHR19277:SF24,SMART_domains:SM00159,Superfamily_domains:SSF49899	neuronal pentraxin I precursor				ENSP00000307549		5-Mar									COSM2804145	5-Mar	.		ENST00000306773	Transcript			central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding	ENSG00000171246	g.chr17:78447110C>T	7952			MODERATE		1.54	low	getma.org/?cm=msa&ty=f&p=NPTX1_HUMAN&rb=227&re=422&var=A263T	getma.org/pdb.php?prot=NPTX1_HUMAN&from=227&to=422&var=A263T	getma.org/?cm=var&var=hg19,17,78447110,C,T&fts=all	A263T	--	--	1																																			1	1		benign(0.105)	p.A263T	NM_002522	NP_002513		deleterious(0.03)	1	NPTX1_HUMAN	NPTX1	HGNC	Q15818	NPTX1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)				3	945	-	all_neural(118;0.0538)		UPI000013EB88	263			Pentaxin.		SNV	NPTX1,missense_variant,p.Ala263Thr,ENST00000306773,NM_002522.3;NPTX1,downstream_gene_variant,,ENST00000575212,;NPTX1,non_coding_transcript_exon_variant,,ENST00000535681,;NPTX1,non_coding_transcript_exon_variant,,ENST00000571100,;	uc002jyp.1	c.787G>A	945/5122	2	2			c.787G>A						17	SNP	c.(787-789)GCC>ACC	31	31				0	Broad	neuronal pentraxin I precursor			78447110		0.587	ENSG00000171246	10413	g.chr17:78447110C>T	central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding							12.154248	KEEP	10	20	-1	131	150	10	20	-1	57.954679	131	150	0.091575	1	0	0	0	0	1	0	0	0	--	--		0	T				63	GBM-06-0650-TP	p.A263T	C	CCTGGCGTGGCGCTGGACTTG	NM_002522	NP_002513	78447110	Q15818	NPTX1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)		3	945	-	T	T	all_neural(118;0.0538)		Missense_Mutation	263			Pentaxin.			
NPTX1	0	broad.mit.edu	GRCh37	17	78447110	78447110	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01	TCGA-32-4213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306773.4:c.787G>A	p.Ala263Thr	p.A263T	ENST00000306773	NM_002522.3	263	Gcc/Acc	0			1			T	A/T	uc002jyp.1	protein_coding	YES	CCDS32762.1			787/1299										0	c.(787-789)GCC>ACC			Gene3D:2.60.120.200,Pfam_domain:PF00354,Prints_domain:PR00895,hmmpanther:PTHR19277,hmmpanther:PTHR19277:SF24,SMART_domains:SM00159,Superfamily_domains:SSF49899	neuronal pentraxin I precursor				ENSP00000307549		5-Mar									COSM2804145	5-Mar	.		ENST00000306773	Transcript			central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding	ENSG00000171246	g.chr17:78447110C>T	7952			MODERATE		1.54	low	getma.org/?cm=msa&ty=f&p=NPTX1_HUMAN&rb=227&re=422&var=A263T	getma.org/pdb.php?prot=NPTX1_HUMAN&from=227&to=422&var=A263T	getma.org/?cm=var&var=hg19,17,78447110,C,T&fts=all	A263T	--	--	1																																			1	1		benign(0.105)	p.A263T	NM_002522	NP_002513		deleterious(0.03)	1	NPTX1_HUMAN	NPTX1	HGNC	Q15818	NPTX1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)				3	945	-	all_neural(118;0.0538)		UPI000013EB88	263			Pentaxin.		SNV	NPTX1,missense_variant,p.Ala263Thr,ENST00000306773,NM_002522.3;NPTX1,downstream_gene_variant,,ENST00000575212,;NPTX1,non_coding_transcript_exon_variant,,ENST00000535681,;NPTX1,non_coding_transcript_exon_variant,,ENST00000571100,;	uc002jyp.1	c.787G>A	945/5122	2	2			c.787G>A						17	SNP	c.(787-789)GCC>ACC	31	31				0	Broad	neuronal pentraxin I precursor			78447110		0.587	ENSG00000171246	10413	g.chr17:78447110C>T	central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding							283.547067	KEEP	66	52	-1	124	129	66	52	-1	292.446573	124	129	0.325228	1	0	0	0	0	1	0	0	0	--	--		0	T				247	GBM-32-4213-TP	p.A263T	C	CCTGGCGTGGCGCTGGACTTG	NM_002522	NP_002513	78447110	Q15818	NPTX1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)		3	945	-	T	T	all_neural(118;0.0538)		Missense_Mutation	263			Pentaxin.			
NPTX2	4885	broad.mit.edu	GRCh37	7	98256538	98256538	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01	TCGA-06-0195-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265634.3:c.950C>T	p.Thr317Met	p.T317M	ENST00000265634	NM_002523.2	317	aCg/aTg	0	T:0		1			T	T/M	uc003upl.2	protein_coding	YES	CCDS5657.1			950/1296									central_nervous_system(2)|skin(1)	3	c.(949-951)ACG>ATG			Gene3D:2.60.120.200,Pfam_domain:PF00354,Prints_domain:PR00895,PROSITE_patterns:PS00289,hmmpanther:PTHR19277,hmmpanther:PTHR19277:SF1,SMART_domains:SM00159,Superfamily_domains:SSF49899	neuronal pentraxin II precursor			T:0.0001	ENSP00000265634		5-Apr	1.65E-05	9.65E-05				1.51E-05			rs377548219,COSM3412536	5-Apr	.		ENST00000265634	Transcript			synaptic transmission	extracellular region	metal ion binding|sugar binding	ENSG00000106236	g.chr7:98256538C>T	7953			MODERATE		3.235	medium	getma.org/?cm=msa&ty=f&p=NPTX2_HUMAN&rb=224&re=420&var=T317M	getma.org/pdb.php?prot=NPTX2_HUMAN&from=224&to=420&var=T317M	getma.org/?cm=var&var=hg19,7,98256538,C,T&fts=all	T317M	--	--	1																																			0,1	1		possibly_damaging(0.634)	p.T317M	NM_002523	NP_002514		deleterious(0)	0,1	NPTX2_HUMAN	NPTX2	HGNC	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)				4	1127	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		UPI000013040F	317			Pentaxin.		SNV	NPTX2,missense_variant,p.Thr317Met,ENST00000265634,NM_002523.2;NPTX2,non_coding_transcript_exon_variant,,ENST00000466102,;	uc003upl.2	c.950C>T	1115/2700	2	2			c.950C>T						7	SNP	c.(949-951)ACG>ATG	46	46			central_nervous_system(2)|skin(1)	3	Broad	neuronal pentraxin II precursor			98256538		0.642	ENSG00000106236	10414	g.chr7:98256538C>T	synaptic transmission	extracellular region	metal ion binding|sugar binding							61.359066	KEEP	19	15	-1	58	60	19	15	-1	71.051508	58	60	0.212598	1	0	0	0	0	1	0	0	0	--	--		0	T				45	GBM-06-0195-TP	p.T317M	C	GTCACCTGGACGACACGGGAT	NM_002523	NP_002514	98256538	P47972	NPTX2_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.215)		4	1127	+	T	T	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		Missense_Mutation	317			Pentaxin.			
NPTX2	4885	broad.mit.edu	GRCh37	7	98254367	98254367	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265634.3:c.777C>T	p.Ser259=	p.S259=	ENST00000265634	NM_002523.2	259	agC/agT	0			1			T	S	uc003upl.2	protein_coding	YES	CCDS5657.1			777/1296									central_nervous_system(2)|skin(1)	3	c.(775-777)AGC>AGT			Gene3D:2.60.120.200,Pfam_domain:PF00354,Prints_domain:PR00895,hmmpanther:PTHR19277,hmmpanther:PTHR19277:SF1,SMART_domains:SM00159,Superfamily_domains:SSF49899	neuronal pentraxin II precursor				ENSP00000265634		5-Mar	8.24E-06			0.000116					rs764342757,COSM3412535	5-Mar	.		ENST00000265634	Transcript			synaptic transmission	extracellular region	metal ion binding|sugar binding	ENSG00000106236	g.chr7:98254367C>T	7953			LOW								--	--	1																																			0,1	1			p.S259S	NM_002523	NP_002514			0,1	NPTX2_HUMAN	NPTX2	HGNC	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)				3	954	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		UPI000013040F	259			Pentaxin.		SNV	NPTX2,synonymous_variant,p.=,ENST00000265634,NM_002523.2;NPTX2,non_coding_transcript_exon_variant,,ENST00000466102,;	uc003upl.2	c.777C>T	942/2700	2	2			c.777C>T						7	SNP	c.(775-777)AGC>AGT	34	34			central_nervous_system(2)|skin(1)	3	Broad	neuronal pentraxin II precursor			98254367		0.607	ENSG00000106236	10414	g.chr7:98254367C>T	synaptic transmission	extracellular region	metal ion binding|sugar binding							-51.847664	KEEP	5	5	-1	157	112	5	5	-1	7.813962	157	112	0.032129	1	0	0	0	0	0	0	1	0	--	--		0	T				62	GBM-06-0649-TP	p.S259S	C	TGCGGTCCAGCGCCTCACCAG	NM_002523	NP_002514	98254367	P47972	NPTX2_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.215)		3	954	+	T	T	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		Silent	259			Pentaxin.			
NPTX2	4885	broad.mit.edu	GRCh37	7	98254242	98254242	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265634.3:c.652G>A	p.Ala218Thr	p.A218T	ENST00000265634	NM_002523.2	218	Gcc/Acc	0			1			A	A/T	uc003upl.2	protein_coding	YES	CCDS5657.1			652/1296									central_nervous_system(2)|skin(1)	3	c.(652-654)GCC>ACC			hmmpanther:PTHR19277,hmmpanther:PTHR19277:SF1	neuronal pentraxin II precursor				ENSP00000265634		5-Mar	2.47E-05					3.04E-05		6.21E-05	rs778350750,COSM2152125	5-Mar	.		ENST00000265634	Transcript			synaptic transmission	extracellular region	metal ion binding|sugar binding	ENSG00000106236	g.chr7:98254242G>A	7953			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=NPTX2_HUMAN&rb=171&re=253&var=A218T	NA	getma.org/?cm=var&var=hg19,7,98254242,G,A&fts=all	A218T	--	--	1																																			0,1	1		benign(0.009)	p.A218T	NM_002523	NP_002514		tolerated(0.27)	0,1	NPTX2_HUMAN	NPTX2	HGNC	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)				3	829	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		UPI000013040F	218					SNV	NPTX2,missense_variant,p.Ala218Thr,ENST00000265634,NM_002523.2;NPTX2,non_coding_transcript_exon_variant,,ENST00000466102,;	uc003upl.2	c.652G>A	817/2700	2	2			c.652G>A						7	SNP	c.(652-654)GCC>ACC	31	31			central_nervous_system(2)|skin(1)	3	Broad	neuronal pentraxin II precursor			98254242		0.582	ENSG00000106236	10414	g.chr7:98254242G>A	synaptic transmission	extracellular region	metal ion binding|sugar binding							419.506111	KEEP	107	88	-1	308	318	107	88	-1	464.477013	308	318	0.240437	1	0	0	0	0	1	0	0	0	--	--		0	A				73	GBM-06-0877-TP	p.A218T	G	AGGCAATAGCGCCTTTAAGTC	NM_002523	NP_002514	98254242	P47972	NPTX2_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.215)		3	829	+	A	A	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		Missense_Mutation	218						
NPTX2	4885	broad.mit.edu	GRCh37	7	98257875	98257875	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2557-01	TCGA-06-2557-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265634.3:c.1230C>T	p.Val410=	p.V410=	ENST00000265634	NM_002523.2	410	gtC/gtT	0	T:0		1			T	V	uc003upl.2	protein_coding	YES	CCDS5657.1			1230/1296									central_nervous_system(2)|skin(1)	3	c.(1228-1230)GTC>GTT			Gene3D:2.60.120.200,Pfam_domain:PF00354,hmmpanther:PTHR19277,hmmpanther:PTHR19277:SF1,SMART_domains:SM00159,Superfamily_domains:SSF49899	neuronal pentraxin II precursor			T:0.0001	ENSP00000265634		5-May	6.59E-05					0.000163			rs199857878,COSM199095	5-May	.		ENST00000265634	Transcript			synaptic transmission	extracellular region	metal ion binding|sugar binding	ENSG00000106236	g.chr7:98257875C>T	7953			LOW								--	--	1																																			0,1	1			p.V410V	NM_002523	NP_002514			0,1	NPTX2_HUMAN	NPTX2	HGNC	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)				5	1407	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		UPI000013040F	410			Pentaxin.		SNV	NPTX2,synonymous_variant,p.=,ENST00000265634,NM_002523.2;NPTX2,downstream_gene_variant,,ENST00000466102,;	uc003upl.2	c.1230C>T	1395/2700	2	2			c.1230C>T						7	SNP	c.(1228-1230)GTC>GTT	21	21			central_nervous_system(2)|skin(1)	3	Broad	neuronal pentraxin II precursor			98257875		0.582	ENSG00000106236	10414	g.chr7:98257875C>T	synaptic transmission	extracellular region	metal ion binding|sugar binding							15.307994	KEEP	6	1	-1	14	17	6	1	-1	17.83583	14	17	0.212121	1	0	0	0	0	0	0	1	0	--	--		0	T				81	GBM-06-2557-TP	p.V410V	C	ACAATAACGTCGATGTGTTCG	NM_002523	NP_002514	98257875	P47972	NPTX2_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.215)		5	1407	+	T	T	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		Silent	410			Pentaxin.			
NPTX2	0	broad.mit.edu	GRCh37	7	98256632	98256632	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-3653-01	TCGA-12-3653-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265634.3:c.1044C>T	p.Gly348=	p.G348=	ENST00000265634	NM_002523.2	348	ggC/ggT	0			1			T	G	uc003upl.2	protein_coding	YES	CCDS5657.1			1044/1296									central_nervous_system(2)|skin(1)	3	c.(1042-1044)GGC>GGT			Gene3D:2.60.120.200,Pfam_domain:PF00354,Prints_domain:PR00895,hmmpanther:PTHR19277,hmmpanther:PTHR19277:SF1,SMART_domains:SM00159,Superfamily_domains:SSF49899	neuronal pentraxin II precursor				ENSP00000265634		5-Apr	4.94E-05					9.22E-05			rs756266964,COSM485780	5-Apr	.		ENST00000265634	Transcript			synaptic transmission	extracellular region	metal ion binding|sugar binding	ENSG00000106236	g.chr7:98256632C>T	7953			LOW								--	--	1																																			0,1	1			p.G348G	NM_002523	NP_002514			0,1	NPTX2_HUMAN	NPTX2	HGNC	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)				4	1221	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		UPI000013040F	348			Pentaxin.		SNV	NPTX2,synonymous_variant,p.=,ENST00000265634,NM_002523.2;NPTX2,downstream_gene_variant,,ENST00000466102,;	uc003upl.2	c.1044C>T	1209/2700	2	2			c.1044C>T						7	SNP	c.(1042-1044)GGC>GGT	48	48			central_nervous_system(2)|skin(1)	3	Broad	neuronal pentraxin II precursor			98256632		0.677	ENSG00000106236	10414	g.chr7:98256632C>T	synaptic transmission	extracellular region	metal ion binding|sugar binding							63.602844	KEEP	9	16	-1	27	24	9	16	-1	65.554928	27	24	0.323944	1	0	0	0	0	0	0	1	0	--	--		0	T				128	GBM-12-3653-TP	p.G348G	C	AGCCCGGGGGCGTGCTGATCC	NM_002523	NP_002514	98256632	P47972	NPTX2_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.215)		4	1221	+	T	T	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		Silent	348			Pentaxin.			
NPTX2	0	broad.mit.edu	GRCh37	7	98254345	98254345	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-14-0813-01	TCGA-14-0813-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265634.3:c.755T>A	p.Ile252Asn	p.I252N	ENST00000265634	NM_002523.2	252	aTc/aAc	0			1			A	I/N	uc003upl.2	protein_coding	YES	CCDS5657.1			755/1296									central_nervous_system(2)|skin(1)	3	c.(754-756)ATC>AAC			Gene3D:2.60.120.200,Pfam_domain:PF00354,Prints_domain:PR00895,hmmpanther:PTHR19277,hmmpanther:PTHR19277:SF1,SMART_domains:SM00159,Superfamily_domains:SSF49899	neuronal pentraxin II precursor				ENSP00000265634		5-Mar									COSM3412534	5-Mar	.		ENST00000265634	Transcript			synaptic transmission	extracellular region	metal ion binding|sugar binding	ENSG00000106236	g.chr7:98254345T>A	7953			MODERATE		2.34	medium	getma.org/?cm=msa&ty=f&p=NPTX2_HUMAN&rb=224&re=420&var=I252N	getma.org/pdb.php?prot=NPTX2_HUMAN&from=224&to=420&var=I252N	getma.org/?cm=var&var=hg19,7,98254345,T,A&fts=all	I252N	--	--	1																																			1	1		possibly_damaging(0.866)	p.I252N	NM_002523	NP_002514		deleterious(0)	1	NPTX2_HUMAN	NPTX2	HGNC	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)				3	932	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		UPI000013040F	252			Pentaxin.		SNV	NPTX2,missense_variant,p.Ile252Asn,ENST00000265634,NM_002523.2;NPTX2,non_coding_transcript_exon_variant,,ENST00000466102,;	uc003upl.2	c.755T>A	920/2700	1	1			c.755T>A						7	SNP	c.(754-756)ATC>AAC	55	55			central_nervous_system(2)|skin(1)	3	Broad	neuronal pentraxin II precursor			98254345		0.592	ENSG00000106236	10414	g.chr7:98254345T>A	synaptic transmission	extracellular region	metal ion binding|sugar binding							-83.83558	KEEP	7	4	-1	200	237	7	4	-1	11.137153	200	237	0.019126	1	0	0	0	0	1	0	0	0	--	--		0	A				138	GBM-14-0813-TP	p.I252N	T	GCCTTCACCATCTGCCTGTGG	NM_002523	NP_002514	98254345	P47972	NPTX2_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.215)		3	932	+	A	A	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		Missense_Mutation	252			Pentaxin.			
NPTX2	0	broad.mit.edu	GRCh37	7	98254301	98254301	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265634.3:c.711C>T	p.Tyr237=	p.Y237=	ENST00000265634	NM_002523.2	237	taC/taT	0		T:0	1	T:0		T	Y	uc003upl.2	protein_coding	YES	CCDS5657.1			711/1296									central_nervous_system(2)|skin(1)	3	c.(709-711)TAC>TAT			Gene3D:2.60.120.200,Pfam_domain:PF00354,hmmpanther:PTHR19277,hmmpanther:PTHR19277:SF1,SMART_domains:SM00159	neuronal pentraxin II precursor		T:0		ENSP00000265634	T:0.001	5-Mar	3.29E-05	9.64E-05	8.65E-05			3.01E-05			rs573416055,COSM2154840	5-Mar	.		ENST00000265634	Transcript		T:0.0002	synaptic transmission	extracellular region	metal ion binding|sugar binding	ENSG00000106236	g.chr7:98254301C>T	7953			LOW								--	--	1																																			0,1	1			p.Y237Y	NM_002523	NP_002514	T:0		0,1	NPTX2_HUMAN	NPTX2	HGNC	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)				3	888	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		UPI000013040F	237			Pentaxin.		SNV	NPTX2,synonymous_variant,p.=,ENST00000265634,NM_002523.2;NPTX2,non_coding_transcript_exon_variant,,ENST00000466102,;	uc003upl.2	c.711C>T	876/2700	1	1			c.711C>T						7	SNP	c.(709-711)TAC>TAT	2	2			central_nervous_system(2)|skin(1)	3	Broad	neuronal pentraxin II precursor			98254301		0.587	ENSG00000106236	10414	g.chr7:98254301C>T	synaptic transmission	extracellular region	metal ion binding|sugar binding							278.621138	KEEP	58	65	-1	220	169	58	65	-1	305.774616	220	169	0.24622	1	0	0	0	0	0	0	1	0	--	--		0	T				139	GBM-14-0817-TP	p.Y237Y	C	ACTACCTATACGGCAAGATCA	NM_002523	NP_002514	98254301	P47972	NPTX2_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.215)		3	888	+	T	T	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		Silent	237			Pentaxin.			
NPTX2	4885		GRCh37	7	98257925	98257925	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000265634.3:c.1280G>A	p.Arg427His	p.R427H	ENST00000265634	NM_002523.2	427	cGt/cAt	0																																																																																																																																																																																																																																												
NPY2R	4887	broad.mit.edu	GRCh37	4	156135822	156135822	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0166-01	TCGA-06-0166-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329476.3:c.731G>C	p.Ser244Thr	p.S244T	ENST00000329476	NM_000910.2	244	aGt/aCt	0			1			C	S/T	uc003ioq.2	protein_coding	YES	CCDS3791.1			731/1146									lung(2)|skin(1)	3	c.(730-732)AGT>ACT			PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF42,hmmpanther:PTHR24242,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01014	neuropeptide Y receptor Y2				ENSP00000332591		2-Feb									COSM3409123	2-Feb	.		ENST00000329476	Transcript			cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	ENSG00000185149	g.chr4:156135822G>C	7957			MODERATE		0.145	neutral	getma.org/?cm=msa&ty=f&p=NPY2R_HUMAN&rb=67&re=325&var=S244T	getma.org/pdb.php?prot=NPY2R_HUMAN&from=67&to=325&var=S244T	getma.org/?cm=var&var=hg19,4,156135822,G,C&fts=all	S244T	--	--	1																																		NPY2R_uc003ior.2_Missense_Mutation_p.S244T	1	1		benign(0.008)	p.S244T	NM_000910	NP_000901		tolerated(0.67)	1	NPY2R_HUMAN	NPY2R	HGNC	P49146	NPY2R_HUMAN					2	1226	+	all_hematologic(180;0.24)	Renal(120;0.0854)	UPI000003B342	244			Cytoplasmic (Potential).		SNV	NPY2R,missense_variant,p.Ser244Thr,ENST00000329476,NM_000910.2;NPY2R,missense_variant,p.Ser244Thr,ENST00000506608,;	uc003ioq.2	c.731G>C	1220/3626	3	3			c.731G>C						4	SNP	c.(730-732)AGT>ACT	4	4			lung(2)|skin(1)	3	Broad	neuropeptide Y receptor Y2			156135822		0.433	ENSG00000185149	10420	g.chr4:156135822G>C	cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity							-19.074473	KEEP	1	2	-1	69	50	1	2	-1	7.192021	69	50	0.028037	1	0	0	0	0	1	0	0	0	--	--		0	C			NPY2R_uc003ior.2_Missense_Mutation_p.S244T	31	GBM-06-0166-TP	p.S244T	G	CGCATTTGGAGTAAATTGAAG	NM_000910	NP_000901	156135822	P49146	NPY2R_HUMAN	0			2	1226	+	C	C	all_hematologic(180;0.24)	Renal(120;0.0854)	Missense_Mutation	244			Cytoplasmic (Potential).			
NPY4R	0	broad.mit.edu	GRCh37	10	47086808	47086808	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-12-5301-01	TCGA-12-5301-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374312.1:c.25T>A	p.Leu9Met	p.L9M	ENST00000374312	NM_005972.5	9	Ttg/Atg	0			1			A	L/M	uc001jee.2	protein_coding	YES	CCDS31193.1			25/1128									ovary(1)|skin(1)	2	c.(25-27)TTG>ATG			hmmpanther:PTHR24242:SF185,hmmpanther:PTHR24242,Prints_domain:PR01015	pancreatic polypeptide receptor 1				ENSP00000363431		3-Mar									COSM3397140	3-Mar	.		ENST00000374312	Transcript			blood circulation|digestion|feeding behavior	integral to plasma membrane		ENSG00000204174	g.chr10:47086808T>A	9329			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=NPY4R_HUMAN&rb=1&re=57&var=L9M	NA	getma.org/?cm=var&var=hg19,10,47086808,T,A&fts=all	L9M	--	--	1																																		ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Missense_Mutation_p.L9M	1	1		benign(0.035)	p.L9M	NM_005972	NP_005963		tolerated_low_confidence(0.23)	1	NPY4R_HUMAN	NPY4R	HGNC	P50391	NPY4R_HUMAN					3	444	+			UPI0000050415	9			Extracellular (Potential).		SNV	NPY4R,missense_variant,p.Leu9Met,ENST00000374312,NM_005972.5;NPY4R,missense_variant,p.Leu9Met,ENST00000395716,;LINC00842,intron_variant,,ENST00000503031,;	uc001jee.2	c.25T>A	444/1956	2	2			c.25T>A						10	SNP	c.(25-27)TTG>ATG	35	35			ovary(1)|skin(1)	2	Broad	pancreatic polypeptide receptor 1			47086808		0.493	ENSG00000204174	12214	g.chr10:47086808T>A	blood circulation|digestion|feeding behavior	integral to plasma membrane								113.527175	KEEP	21	31	-1	66	64	21	31	-1	119.843946	66	64	0.292683	1	0	0	0	0	1	0	0	0	--	--		0	A			ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Missense_Mutation_p.L9M	131	GBM-12-5301-TP	p.L9M	T	CCTCCTGGCCTTGCTGCTCCC	NM_005972	NP_005963	47086808	P50391	NPY4R_HUMAN	0			3	444	+	A	A			Missense_Mutation	9			Extracellular (Potential).			
NPY5R	4889	broad.mit.edu	GRCh37	4	164271493	164271493	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000515560.1:c.68G>A	p.Arg23Gln	p.R23Q	ENST00000515560		23	cGg/cAg	0	A:0.0002		1			A	R/Q	uc003iqn.2	protein_coding		CCDS3804.1			68/1338									lung(6)|skin(1)	7	c.(67-69)CGG>CAG			Gene3D:1.20.1070.10,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF167,Superfamily_domains:SSF81321	neuropeptide Y receptor Y5			A:0	ENSP00000339377		4-Apr	1.65E-05		8.64E-05		0.000151				rs375176738,COSM1179262	4-Apr	.		ENST00000338566	Transcript			cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		ENSG00000164129	g.chr4:164271493G>A	7958			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=NPY5R_HUMAN&rb=1&re=57&var=R23Q	NA	getma.org/?cm=var&var=hg19,4,164271493,G,A&fts=all	R23Q	--	--	1																																			0,1			benign(0.001)	p.R23Q	NM_006174	NP_006165		tolerated(0.34)	0,1	NPY5R_HUMAN	NPY5R	HGNC	Q15761	NPY5R_HUMAN					4	250	+	all_hematologic(180;0.166)	Prostate(90;0.109)	UPI000000D9D7	23			Extracellular (Potential).		SNV	NPY5R,missense_variant,p.Arg23Gln,ENST00000515560,;NPY5R,missense_variant,p.Arg23Gln,ENST00000338566,NM_006174.2;NPY5R,missense_variant,p.Arg23Gln,ENST00000506953,;	uc003iqn.2	c.68G>A	250/1843	1	1			c.68G>A						4	SNP	c.(67-69)CGG>CAG	64	64			lung(6)|skin(1)	7	Broad	neuropeptide Y receptor Y5			164271493		0.378	ENSG00000164129	10421	g.chr4:164271493G>A	cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		Melanoma(139;1287 1774 9781 19750 25599)			Melanoma(139;1287 1774 9781 19750 25599)			159.763499	KEEP	35	36	-1	60	53	35	36	-1	161.896823	60	53	0.368794	1	0	0	0	0	1	0	0	0	--	--		0	A				8	GBM-02-2486-TP	p.R23Q	G	GCTGCCACTCGGAATTCTGAT	NM_006174	NP_006165	164271493	Q15761	NPY5R_HUMAN	0			4	250	+	A	A	all_hematologic(180;0.166)	Prostate(90;0.109)	Missense_Mutation	23			Extracellular (Potential).			
NPY5R	4889	broad.mit.edu	GRCh37	4	164272650	164272650	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0686-01	TCGA-06-0686-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000515560.1:c.1225A>G	p.Ile409Val	p.I409V	ENST00000515560		409	Att/Gtt	0			1			G	I/V	uc003iqn.2	protein_coding		CCDS3804.1			1225/1338									lung(6)|skin(1)	7	c.(1225-1227)ATT>GTT			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF167,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	neuropeptide Y receptor Y5				ENSP00000339377		4-Apr	8.24E-06							6.06E-05	rs754248718,COSM2151547	4-Apr	.		ENST00000338566	Transcript			cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		ENSG00000164129	g.chr4:164272650A>G	7958			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=NPY5R_HUMAN&rb=58&re=425&var=I409V	getma.org/pdb.php?prot=NPY5R_HUMAN&from=58&to=425&var=I409V	getma.org/?cm=var&var=hg19,4,164272650,A,G&fts=all	I409V	--	--	1																																			0,1			benign(0.036)	p.I409V	NM_006174	NP_006165		tolerated(0.37)	0,1	NPY5R_HUMAN	NPY5R	HGNC	Q15761	NPY5R_HUMAN					4	1407	+	all_hematologic(180;0.166)	Prostate(90;0.109)	UPI000000D9D7	409			Helical; Name=7; (Potential).		SNV	NPY5R,missense_variant,p.Ile409Val,ENST00000515560,;NPY5R,missense_variant,p.Ile409Val,ENST00000338566,NM_006174.2;NPY5R,missense_variant,p.Ile409Val,ENST00000506953,;	uc003iqn.2	c.1225A>G	1407/1843	3	3			c.1225A>G						4	SNP	c.(1225-1227)ATT>GTT	1	1			lung(6)|skin(1)	7	Broad	neuropeptide Y receptor Y5			164272650		0.348	ENSG00000164129	10421	g.chr4:164272650A>G	cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		Melanoma(139;1287 1774 9781 19750 25599)			Melanoma(139;1287 1774 9781 19750 25599)			160.893323	KEEP	38	16	-1	42	18	38	16	-1	160.996635	42	18	0.466019	1	0	0	0	0	1	0	0	0	--	--		0	G				64	GBM-06-0686-TP	p.I409V	A	GGTGTATTGCATTTGTCATTT	NM_006174	NP_006165	164272650	Q15761	NPY5R_HUMAN	0			4	1407	+	G	G	all_hematologic(180;0.166)	Prostate(90;0.109)	Missense_Mutation	409			Helical; Name=7; (Potential).			
NPY5R	0	broad.mit.edu	GRCh37	4	164271738	164271738	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-14-0817-01	TCGA-14-0817-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338566.3:c.313G>C	p.Asp105His	p.D105H	ENST00000338566	NM_006174.2	105	Gat/Cat	0			1			C	D/H	uc003iqn.2	protein_coding		CCDS3804.1			313/1338									lung(6)|skin(1)	7	c.(313-315)GAT>CAT			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR01012,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF167,Superfamily_domains:SSF81321	neuropeptide Y receptor Y5				ENSP00000339377		4-Apr									COSM3409147	4-Apr	.		ENST00000338566	Transcript			cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		ENSG00000164129	g.chr4:164271738G>C	7958			MODERATE		2.115	medium	getma.org/?cm=msa&ty=f&p=NPY5R_HUMAN&rb=58&re=425&var=D105H	getma.org/pdb.php?prot=NPY5R_HUMAN&from=58&to=425&var=D105H	getma.org/?cm=var&var=hg19,4,164271738,G,C&fts=all	D105H	--	--	1																																			1			probably_damaging(1)	p.D105H	NM_006174	NP_006165		deleterious(0)	1	NPY5R_HUMAN	NPY5R	HGNC	Q15761	NPY5R_HUMAN					4	495	+	all_hematologic(180;0.166)	Prostate(90;0.109)	UPI000000D9D7	105			Extracellular (Potential).		SNV	NPY5R,missense_variant,p.Asp105His,ENST00000515560,;NPY5R,missense_variant,p.Asp105His,ENST00000338566,NM_006174.2;NPY5R,missense_variant,p.Asp105His,ENST00000506953,;	uc003iqn.2	c.313G>C	495/1843	4	4			c.313G>C						4	SNP	c.(313-315)GAT>CAT	46	46			lung(6)|skin(1)	7	Broad	neuropeptide Y receptor Y5			164271738		0.393	ENSG00000164129	10421	g.chr4:164271738G>C	cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		Melanoma(139;1287 1774 9781 19750 25599)			Melanoma(139;1287 1774 9781 19750 25599)			8.522531	KEEP	27	15	-1	315	205	27	15	-1	102.791734	315	205	0.074803	1	0	0	0	0	1	0	0	0	--	--		0	C				139	GBM-14-0817-TP	p.D105H	G	TGTCTTGCTGGATCAGTGGAT	NM_006174	NP_006165	164271738	Q15761	NPY5R_HUMAN	0			4	495	+	C	C	all_hematologic(180;0.166)	Prostate(90;0.109)	Missense_Mutation	105			Extracellular (Potential).			
NQO1	1728		GRCh37	16	69760486	69760487	+	5_prime_UTR_variant	5'UTR	DEL	TT	TT	-			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000320623.5:c.-145_-144del		p.*49*	ENST00000320623	NM_000903.2			0																																																																																																																																																																																																																																												
NR0B1	0	broad.mit.edu	GRCh37	X	30327199	30327199	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-5213-01	TCGA-28-5213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378970.4:c.282G>A	p.Pro94=	p.P94=	ENST00000378970	NM_000475.4	94	ccG/ccA	0			1			T	P	uc004dcf.3	protein_coding	YES	CCDS14223.1			282/1413									ovary(1)|lung(1)	2	c.(280-282)CCG>CCA			Pfam_domain:PF14046,hmmpanther:PTHR24081,hmmpanther:PTHR24081:SF1	nuclear receptor subfamily 0, group B, member 1	Dexamethasone(DB01234)|Tretinoin(DB00755)			ENSP00000368253		2-Jan									COSM3406279,COSM3406280	2-Jan	.		ENST00000378970	Transcript	1		adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	ENSG00000169297	g.chrX:30327199C>T	7960			LOW								--	--	1																																			1,1	1			p.P94P	NM_000475	NP_000466			1,1	NR0B1_HUMAN	NR0B1	HGNC	P51843	NR0B1_HUMAN			F1D8P4_HUMAN		1	297	-			UPI0000128ED4	94			4 X 67 AA tandem repeats.|2.		SNV	NR0B1,synonymous_variant,p.=,ENST00000378970,NM_000475.4;NR0B1,synonymous_variant,p.=,ENST00000453287,;NR0B1,upstream_gene_variant,,ENST00000378963,;	uc004dcf.3	c.282G>A	517/2021	1	1			c.282G>A						23	SNP	c.(280-282)CCG>CCA	4	4			ovary(1)|lung(1)	2	Broad	nuclear receptor subfamily 0, group B, member 1		Dexamethasone(DB01234)|Tretinoin(DB00755)	30327199		0.687	ENSG00000169297	10424	g.chrX:30327199C>T	adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding							47.060269	KEEP	14	8	-1	24	15	14	8	-1	48.313776	24	15	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	T				220	GBM-28-5213-TP	p.P94P	C	CGGGCGCCTTCGGTGCCGCGT	NM_000475	NP_000466	30327199	P51843	NR0B1_HUMAN	0			1	297	-	T	T			Silent	94			4 X 67 AA tandem repeats.|2.			
NR0B2	0	broad.mit.edu	GRCh37	1	27240176	27240176	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01	TCGA-14-1823-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254227.3:c.256C>T	p.Arg86Trp	p.R86W	ENST00000254227	NM_021969.2	86	Cgg/Tgg	0			1			A	R/W	uc001bnf.2	protein_coding	YES	CCDS291.1			256/774										0	c.(256-258)CGG>TGG			Low_complexity_(Seg):seg,hmmpanther:PTHR24081,hmmpanther:PTHR24081:SF0,Pfam_domain:PF00104,Gene3D:1.10.565.10,SMART_domains:SM00430,Superfamily_domains:SSF48508,Prints_domain:PR00398	short heterodimer partner				ENSP00000254227		2-Jan	8.24E-06							6.25E-05	rs750666067,COSM3400649	2-Jan	.		ENST00000254227	Transcript	1		cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity	ENSG00000131910	g.chr1:27240176G>A	7961			MODERATE		1.32	low	getma.org/?cm=msa&ty=f&p=NR0B2_HUMAN&rb=53&re=241&var=R86W	getma.org/pdb.php?prot=NR0B2_HUMAN&from=53&to=241&var=R86W	getma.org/?cm=var&var=hg19,1,27240176,G,A&fts=all	R86W	--	--	1																																			0,1	1		benign(0.005)	p.R86W	NM_021969	NP_068804		tolerated(0.14)	0,1	NR0B2_HUMAN	NR0B2	HGNC	Q15466	NR0B2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)			1	392	-		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	UPI0000135956	86			Ligand-binding (By similarity).		SNV	NR0B2,missense_variant,p.Arg86Trp,ENST00000254227,NM_021969.2;NUDC,intron_variant,,ENST00000435827,;	uc001bnf.2	c.256C>T	282/1156	1	1			c.256C>T						1	SNP	c.(256-258)CGG>TGG	49	49				0	Broad	short heterodimer partner			27240176		0.642	ENSG00000131910	10425	g.chr1:27240176G>A	cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity							28.213316	KEEP	12	5	-1	24	19	12	5	-1	29.426419	24	19	0.305556	1	0	0	0	0	1	0	0	0	--	--		0	A				147	GBM-14-1823-TP	p.R86W	G	TGCAGCAGCCGCCGCTGGTCC	NM_021969	NP_068804	27240176	Q15466	NR0B2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)	1	392	-	A	A		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	Missense_Mutation	86			Ligand-binding (By similarity).			
NR1D1	0	broad.mit.edu	GRCh37	17	38253028	38253028	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-14-4157-01	TCGA-14-4157-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000246672.3:c.375G>C	p.Leu125=	p.L125=	ENST00000246672	NM_021724.4	125	ctG/ctC	0			1			G	L	uc002htz.1	protein_coding	YES	CCDS11361.1			375/1845									skin(1)	1	c.(373-375)CTG>CTC			hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF113	nuclear receptor subfamily 1, group D, member 1				ENSP00000246672		8-Mar									COSM3402840	8-Mar	.		ENST00000246672	Transcript			cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	ENSG00000126368	g.chr17:38253028C>G	7962			LOW								--	--	1																																		NR1D1_uc010cwq.1_RNA|NR1D1_uc010cwr.1_5'UTR	1	1			p.L125L	NM_021724	NP_068370			1	NR1D1_HUMAN	NR1D1	HGNC	P20393	NR1D1_HUMAN			F1D8S3_HUMAN,B4DTC7_HUMAN		3	1001	-	Colorectal(19;0.000442)		UPI00001304C4	125					SNV	NR1D1,synonymous_variant,p.=,ENST00000246672,NM_021724.4;THRA,downstream_gene_variant,,ENST00000450525,NM_199334.3;THRA,downstream_gene_variant,,ENST00000264637,NM_003250.5;THRA,downstream_gene_variant,,ENST00000584985,NM_001190918.1;THRA,downstream_gene_variant,,ENST00000394121,NM_001190919.1;	uc002htz.1	c.375G>C	1006/2772	3	3			c.375G>C						17	SNP	c.(373-375)CTG>CTC	57	57			skin(1)	1	Broad	nuclear receptor subfamily 1, group D, member 1			38253028		0.622	ENSG00000126368	10426	g.chr17:38253028C>G	cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding							-11.548132	KEEP	1	2	-1	33	48	1	2	-1	6.74107	33	48	0.037975	1	0	0	0	0	0	0	1	0	--	--		0	G			NR1D1_uc010cwq.1_RNA|NR1D1_uc010cwr.1_5'UTR	152	GBM-14-4157-TP	p.L125L	C	CCATGCCATTCAGCTCTGTGG	NM_021724	NP_068370	38253028	P20393	NR1D1_HUMAN	0			3	1001	-	G	G	Colorectal(19;0.000442)		Silent	125						
NR1D1	0	broad.mit.edu	GRCh37	17	38252312	38252312	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-28-5215-01	TCGA-28-5215-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000246672.3:c.633A>G	p.Arg211=	p.R211=	ENST00000246672	NM_021724.4	211	cgA/cgG	0			1			C	R	uc002htz.1	protein_coding	YES	CCDS11361.1			633/1845									skin(1)	1	c.(631-633)CGA>CGG			Gene3D:1.10.565.10,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF113,Superfamily_domains:SSF57716	nuclear receptor subfamily 1, group D, member 1				ENSP00000246672		8-May									COSM3402839	8-May	.		ENST00000246672	Transcript			cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	ENSG00000126368	g.chr17:38252312T>C	7962			LOW								--	--	1																																		NR1D1_uc010cwq.1_RNA|NR1D1_uc010cwr.1_Intron	1	1			p.R211R	NM_021724	NP_068370			1	NR1D1_HUMAN	NR1D1	HGNC	P20393	NR1D1_HUMAN			F1D8S3_HUMAN,B4DTC7_HUMAN		5	1259	-	Colorectal(19;0.000442)		UPI00001304C4	211					SNV	NR1D1,synonymous_variant,p.=,ENST00000246672,NM_021724.4;THRA,downstream_gene_variant,,ENST00000450525,NM_199334.3;THRA,downstream_gene_variant,,ENST00000264637,NM_003250.5;THRA,downstream_gene_variant,,ENST00000584985,NM_001190918.1;THRA,downstream_gene_variant,,ENST00000394121,NM_001190919.1;	uc002htz.1	c.633A>G	1264/2772	3	3			c.633A>G						17	SNP	c.(631-633)CGA>CGG	54	54			skin(1)	1	Broad	nuclear receptor subfamily 1, group D, member 1			38252312		0.562	ENSG00000126368	10426	g.chr17:38252312T>C	cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding							-15.155633	KEEP	3	2	-1	66	46	3	2	-1	7.363384	66	46	0.031915	1	0	0	0	0	0	0	1	0	--	--		0	C			NR1D1_uc010cwq.1_RNA|NR1D1_uc010cwr.1_Intron	222	GBM-28-5215-TP	p.R211R	T	GCTGCTTCTCTCGTTTGGGGA	NM_021724	NP_068370	38252312	P20393	NR1D1_HUMAN	0			5	1259	-	C	C	Colorectal(19;0.000442)		Silent	211						
NR1H2	0	broad.mit.edu	GRCh37	19	50882422	50882423	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-14-0790-01	TCGA-14-0790-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000253727.5:c.913dupG	p.Ala305GlyfsTer64	p.A305Gfs*64	ENST00000253727	NM_007121.5	304	aag/aaGg	0			1			G	K/KX	uc010enw.2	protein_coding	YES	CCDS42593.1			911-912/1383										0	c.(913-915)AAGfs			Gene3D:1.10.565.10,Pfam_domain:PF00104,Prints_domain:PR00398,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF110,SMART_domains:SM00430,Superfamily_domains:SSF48508	nuclear receptor subfamily 1, group H, member 2				ENSP00000253727		10-Jul										10-Jul	.		ENST00000253727	Transcript			negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	ENSG00000131408	g.chr19:50882422_50882423insG	7965	2		HIGH								--	--	1																																		NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Frame_Shift_Ins_p.K260fs|NR1H2_uc002psa.3_Frame_Shift_Ins_p.K207fs		1			p.K305fs	NM_007121	NP_009052				NR1H2_HUMAN	NR1H2	HGNC	P55055	NR1H2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	M0R3A7_HUMAN,M0R1V8_HUMAN,M0QZF5_HUMAN,M0QYE6_HUMAN,F1D8P7_HUMAN		8	1190_1191	+		all_neural(266;0.057)	UPI000013CDEE	304			Ligand-binding (Potential).		insertion	NR1H2,frameshift_variant,p.Ala36GlyfsTer64,ENST00000542413,;NR1H2,frameshift_variant,p.Ala305GlyfsTer64,ENST00000253727,NM_007121.5;NR1H2,frameshift_variant,p.Ala275GlyfsTer64,ENST00000598168,;NR1H2,frameshift_variant,p.Ala261GlyfsTer64,ENST00000599105,;NR1H2,frameshift_variant,p.Ala305GlyfsTer64,ENST00000593926,;NR1H2,frameshift_variant,p.Ala208GlyfsTer64,ENST00000411902,NM_001256647.1;NR1H2,downstream_gene_variant,,ENST00000597130,;NR1H2,downstream_gene_variant,,ENST00000597157,;NR1H2,downstream_gene_variant,,ENST00000597790,;NR1H2,downstream_gene_variant,,ENST00000600355,;NR1H2,3_prime_UTR_variant,,ENST00000593532,;NR1H2,non_coding_transcript_exon_variant,,ENST00000597085,;NR1H2,downstream_gene_variant,,ENST00000595730,;	uc010enw.2	c.914_915insG	1146-1147/1998	5	5			c.914_915insG						19	INS	c.(913-915)AAGfs	11	11				0	Broad	nuclear receptor subfamily 1, group H, member 2			50882423		0.574	ENSG00000131408	10428	g.chr19:50882422_50882423insG	negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			464			464														0.21	1	0	0	1	1	0	0	0	0	--	--		0	G			NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Frame_Shift_Ins_p.K260fs|NR1H2_uc002psa.3_Frame_Shift_Ins_p.K207fs	137	GBM-14-0790-TP	p.K305fs	-	GCCCTCCTGAAGGCATCCACTA	NM_007121	NP_009052	50882422	P55055	NR1H2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	8	1190_1191	+	G	G		all_neural(266;0.057)	Frame_Shift_Ins	304			Ligand-binding (Potential).			
NR1H2	0	broad.mit.edu	GRCh37	19	50882004	50882004	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-27-2524-01	TCGA-27-2524-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000253727.5:c.700delC	p.Gln234AsnfsTer70	p.Q234Nfs*70	ENST00000253727	NM_007121.5	233	gCc/gc	0			1			-	A/X	uc010enw.2	protein_coding	YES	CCDS42593.1			698/1383										0	c.(700-702)GCCfs			hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF110,Superfamily_domains:SSF48508	nuclear receptor subfamily 1, group H, member 2				ENSP00000253727		10-Jun										10-Jun	.		ENST00000253727	Transcript			negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	ENSG00000131408	g.chr19:50882004delC	7965	2		HIGH								--	--	1																																		NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Frame_Shift_Del_p.A233fs|NR1H2_uc002psa.3_Frame_Shift_Del_p.A136fs		1			p.A234fs	NM_007121	NP_009052				NR1H2_HUMAN	NR1H2	HGNC	P55055	NR1H2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	M0R3A7_HUMAN,M0R1V8_HUMAN,M0QZF5_HUMAN,M0QYE6_HUMAN,F1D8P7_HUMAN		7	977	+		all_neural(266;0.057)	UPI000013CDEE	233			Ligand-binding (Potential).		deletion	NR1H2,frameshift_variant,p.Gln9AsnfsTer26,ENST00000542413,;NR1H2,frameshift_variant,p.Gln234AsnfsTer70,ENST00000253727,NM_007121.5;NR1H2,frameshift_variant,p.Gln234AsnfsTer40,ENST00000598168,;NR1H2,frameshift_variant,p.Gln234AsnfsTer26,ENST00000599105,;NR1H2,frameshift_variant,p.Gln234AsnfsTer70,ENST00000593926,;NR1H2,frameshift_variant,p.Gln137AsnfsTer70,ENST00000411902,NM_001256647.1;NR1H2,downstream_gene_variant,,ENST00000597130,;NR1H2,downstream_gene_variant,,ENST00000597157,;NR1H2,downstream_gene_variant,,ENST00000597790,;NR1H2,downstream_gene_variant,,ENST00000600355,;NR1H2,3_prime_UTR_variant,,ENST00000593532,;NR1H2,non_coding_transcript_exon_variant,,ENST00000597085,;NR1H2,downstream_gene_variant,,ENST00000595730,;	uc010enw.2	c.701delC	933/1998	5	5			c.701delC						19	DEL	c.(700-702)GCCfs	44	44				0	Broad	nuclear receptor subfamily 1, group H, member 2			50882004		0.612	ENSG00000131408	10428	g.chr19:50882004delC	negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			464			464														0.16	1	1	0	1	0	0	0	0	0	--	--		0	-			NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Frame_Shift_Del_p.A233fs|NR1H2_uc002psa.3_Frame_Shift_Del_p.A136fs	202	GBM-27-2524-TP	p.A234fs	C	TTGGTGGCGGCCCAACTGCAG	NM_007121	NP_009052	50882004	P55055	NR1H2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	7	977	+	-	-		all_neural(266;0.057)	Frame_Shift_Del	233			Ligand-binding (Potential).			
NR1H3	10062		GRCh37	11	47282203	47282203	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000467728.1:c.476G>A	p.Arg159His	p.R159H	ENST00000467728		159	cGt/cAt	0																																																																																																																																																																																																																																												
NR1H4	9971	broad.mit.edu	GRCh37	12	100904745	100904745	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs113431969		TCGA-06-0750-01	TCGA-06-0750-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000551379.1:c.299G>A	p.Arg100His	p.R100H	ENST00000551379		100	cGt/cAt	0			1			A	R/H	uc001tht.1	protein_coding	YES	CCDS55876.1			299/1461									ovary(1)|lung(1)|skin(1)	3	c.(298-300)CGT>CAT			hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF155	nuclear receptor subfamily 1, group H, member 4				ENSP00000447149		9-Feb	4.94E-05					5.99E-05		0.000121	rs113431969,COSM2062729,COSM2062728	9-Feb	.		ENST00000551379	Transcript	1		bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	ENSG00000012504	g.chr12:100904745G>A	7967			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=NR1H4_HUMAN&rb=1&re=119&var=R100H	NA	getma.org/?cm=var&var=hg19,12,100904745,G,A&fts=all	R100H	--	--	1																																		NR1H4_uc001thp.1_Missense_Mutation_p.R90H|NR1H4_uc001thq.1_Missense_Mutation_p.R90H|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Missense_Mutation_p.R90H|NR1H4_uc010svk.1_Missense_Mutation_p.R90H|NR1H4_uc001ths.1_Missense_Mutation_p.R100H	0,1,1	1		possibly_damaging(0.556)	p.R100H	NM_005123	NP_005114		deleterious(0.02)	0,1,1	NR1H4_HUMAN	NR1H4	HGNC	Q96RI1	NR1H4_HUMAN			B7Z423_HUMAN		2	327	+			UPI000006E701	100					SNV	NR1H4,missense_variant,p.Arg90His,ENST00000548884,NM_005123.3,NM_001206977.1,NM_001206979.1;NR1H4,missense_variant,p.Arg90His,ENST00000392986,;NR1H4,missense_variant,p.Arg90His,ENST00000549996,NM_001206978.1;NR1H4,missense_variant,p.Arg100His,ENST00000188403,NM_001206993.1,NM_001206992.1;NR1H4,missense_variant,p.Arg100His,ENST00000551379,;NR1H4,missense_variant,p.Arg90His,ENST00000321046,;	uc001tht.1	c.299G>A	327/1489	1	1			c.299G>A						12	SNP	c.(298-300)CGT>CAT	64	64			ovary(1)|lung(1)|skin(1)	3	Broad	nuclear receptor subfamily 1, group H, member 4			100904745		0.522	ENSG00000012504	10430	g.chr12:100904745G>A	bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding							154.875975	KEEP	22	33	-1	46	51	22	33	-1	157.022234	46	51	0.371622	1	0	0	0	0	1	0	0	0	--	--		0	A			NR1H4_uc001thp.1_Missense_Mutation_p.R90H|NR1H4_uc001thq.1_Missense_Mutation_p.R90H|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Missense_Mutation_p.R90H|NR1H4_uc010svk.1_Missense_Mutation_p.R90H|NR1H4_uc001ths.1_Missense_Mutation_p.R100H	70	GBM-06-0750-TP	p.R100H	G	GAACTCAGGCGTATGCCAGCT	NM_005123	NP_005114	100904745	Q96RI1	NR1H4_HUMAN	0			2	327	+	A	A			Missense_Mutation	100						
NR1H4	0	broad.mit.edu	GRCh37	12	100897255	100897255	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-27-1831-01	TCGA-27-1831-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000551379.1:c.90G>T	p.Met30Ile	p.M30I	ENST00000551379		30	atG/atT	0			1			T	M/I	uc001tht.1	protein_coding	YES	CCDS55876.1			90/1461									ovary(1)|lung(1)|skin(1)	3	c.(88-90)ATG>ATT				nuclear receptor subfamily 1, group H, member 4				ENSP00000447149		9-Jan									COSM3398242	9-Jan	.		ENST00000551379	Transcript	1		bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	ENSG00000012504	g.chr12:100897255G>T	7967			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=NR1H4_HUMAN&rb=1&re=119&var=M30I	NA	getma.org/?cm=var&var=hg19,12,100897255,G,T&fts=all	M30I	--	--	1																																		NR1H4_uc001thp.1_Intron|NR1H4_uc001thq.1_Intron|NR1H4_uc010svj.1_Intron|NR1H4_uc001thr.1_Intron|NR1H4_uc010svk.1_Intron|NR1H4_uc001ths.1_Missense_Mutation_p.M30I	1	1		benign(0)	p.M30I	NM_005123	NP_005114		tolerated_low_confidence(0.45)	1	NR1H4_HUMAN	NR1H4	HGNC	Q96RI1	NR1H4_HUMAN			B7Z423_HUMAN		1	118	+			UPI000006E701	30					SNV	NR1H4,missense_variant,p.Met30Ile,ENST00000188403,NM_001206993.1,NM_001206992.1;NR1H4,missense_variant,p.Met30Ile,ENST00000551379,;NR1H4,missense_variant,p.Met9Ile,ENST00000551184,;NR1H4,intron_variant,,ENST00000548884,NM_005123.3,NM_001206977.1,NM_001206979.1;NR1H4,intron_variant,,ENST00000392986,;NR1H4,intron_variant,,ENST00000549996,NM_001206978.1;NR1H4,intron_variant,,ENST00000546380,;NR1H4,intron_variant,,ENST00000321046,;NR1H4,intron_variant,,ENST00000548621,;	uc001tht.1	c.90G>T	118/1489	2	2			c.90G>T						12	SNP	c.(88-90)ATG>ATT	32	32			ovary(1)|lung(1)|skin(1)	3	Broad	nuclear receptor subfamily 1, group H, member 4			100897255		0.453	ENSG00000012504	10430	g.chr12:100897255G>T	bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding							31.783546	KEEP	4	8	0.333333333	17	13	4	8	0.333333333	33.070335	17	13	0.307692	1	0	0	0	0	1	0	0	0	--	--		0	T			NR1H4_uc001thp.1_Intron|NR1H4_uc001thq.1_Intron|NR1H4_uc010svj.1_Intron|NR1H4_uc001thr.1_Intron|NR1H4_uc010svk.1_Intron|NR1H4_uc001ths.1_Missense_Mutation_p.M30I	190	GBM-27-1831-TP	p.M30I	G	TGGAAATGATGAGTATGAAGC	NM_005123	NP_005114	100897255	Q96RI1	NR1H4_HUMAN	0			1	118	+	T	T			Missense_Mutation	30						
NR1I2	0	broad.mit.edu	GRCh37	3	119536025	119536025	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-4211-01	TCGA-32-4211-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393716.2:c.1271T>C	p.Leu424Pro	p.L424P	ENST00000393716	NM_003889.3	424	cTc/cCc	0			1			C	L/P	uc003edj.2	protein_coding		CCDS43136.1			1271/1305									ovary(2)	2	c.(1270-1272)CTC>CCC			hmmpanther:PTHR24082:SF39,hmmpanther:PTHR24082,Gene3D:1.10.565.10,Superfamily_domains:SSF48508	nuclear receptor subfamily 1, group I, member 2	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)			ENSP00000377319		9-Sep									COSM3748209	9-Sep	.		ENST00000393716	Transcript			drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	ENSG00000144852	g.chr3:119536025T>C	7968			MODERATE		2.81	medium	getma.org/?cm=msa&ty=f&p=NR1I2_HUMAN&rb=223&re=426&var=L424P	getma.org/pdb.php?prot=NR1I2_HUMAN&from=223&to=426&var=L424P	getma.org/?cm=var&var=hg19,3,119536025,T,C&fts=all	L424P	--	--	1																																		NR1I2_uc003edi.2_Missense_Mutation_p.L387P|NR1I2_uc003edk.2_Missense_Mutation_p.L463P|NR1I2_uc003edl.2_Missense_Mutation_p.L312P	1			probably_damaging(1)	p.L424P	NM_003889	NP_003880		deleterious(0)	1		NR1I2	HGNC	O75469	NR1I2_HUMAN		GBM - Glioblastoma multiforme(114;0.175)	J3KPQ3_HUMAN,B3KVM5_HUMAN		9	3110	+			UPI000013D9B4	424			Ligand-binding.		SNV	NR1I2,missense_variant,p.Leu424Pro,ENST00000393716,NM_003889.3;NR1I2,missense_variant,p.Leu387Pro,ENST00000466380,NM_033013.2;NR1I2,missense_variant,p.Leu463Pro,ENST00000337940,NM_022002.2;GSK3B,downstream_gene_variant,,ENST00000264235,NM_001146156.1,NM_002093.3;NR1I2,non_coding_transcript_exon_variant,,ENST00000493757,;	uc003edj.2	c.1271T>C	3110/4417	3	3			c.1271T>C						3	SNP	c.(1270-1272)CTC>CCC	8	8			ovary(2)	2	Broad	nuclear receptor subfamily 1, group I, member 2		Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	119536025		0.622	ENSG00000144852	10431	g.chr3:119536025T>C	drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding							-23.616962	KEEP	2	3	-1	70	90	2	3	-1	8.048203	70	90	0.030534	1	0	0	0	0	1	0	0	0	--	--		0	C			NR1I2_uc003edi.2_Missense_Mutation_p.L387P|NR1I2_uc003edk.2_Missense_Mutation_p.L463P|NR1I2_uc003edl.2_Missense_Mutation_p.L312P	246	GBM-32-4211-TP	p.L424P	T	GCTACGCCCCTCATGCAGGAG	NM_003889	NP_003880	119536025	O75469	NR1I2_HUMAN	0		GBM - Glioblastoma multiforme(114;0.175)	9	3110	+	C	C			Missense_Mutation	424			Ligand-binding.			
NR1I3	9970	broad.mit.edu	GRCh37	1	161206281	161206281	+	synonymous_variant	Silent	SNP	C	C	T	rs140012276	byFrequency	TCGA-02-0003-01	TCGA-02-0003-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367980.2:c.75G>A	p.Ala25=	p.A25=	ENST00000367980	NM_001077481.2	25	gcG/gcA	0	T:0.0002		1			T	A	uc001fzx.2	protein_coding		CCDS41430.1			75/1059									ovary(1)|skin(1)	2	c.(73-75)GCG>GCA			Gene3D:3.30.50.10,Pfam_domain:PF00105,Prints_domain:PR00047,PROSITE_patterns:PS00031,PROSITE_profiles:PS51030,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF231,SMART_domains:SM00399,Superfamily_domains:SSF57716	constitutive androstane receptor isoform 2			T:0.0003	ENSP00000356961		9-Feb	0.000156			0.000231	0.000151	0.000225		6.06E-05	rs140012276,COSM2148883,COSM2148884	9-Feb	.		ENST00000367982	Transcript			regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding	ENSG00000143257	g.chr1:161206281C>T	7969			LOW								--	--	1																																		TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Silent_p.A25A|NR1I3_uc001fzg.2_Intron|NR1I3_uc001fzh.2_Intron|NR1I3_uc001fzi.2_Intron|NR1I3_uc001fzj.2_Intron|NR1I3_uc001fzk.2_Intron|NR1I3_uc001fzl.2_Intron|NR1I3_uc001fzm.2_Intron|NR1I3_uc001fzn.2_5'UTR|NR1I3_uc009wug.2_Intron|NR1I3_uc001fzp.2_Silent_p.A25A|NR1I3_uc001fzo.2_Intron|NR1I3_uc001fzq.2_Silent_p.A25A|NR1I3_uc001fzr.2_Silent_p.A25A|NR1I3_uc001fzs.2_Intron|NR1I3_uc001fzt.2_Intron|NR1I3_uc001fzu.2_Intron|NR1I3_uc001fzv.2_Intron|NR1I3_uc001fzw.2_Silent_p.A25A|NR1I3_uc001fzy.2_Silent_p.A25A|NR1I3_uc001fzz.2_Silent_p.A25A|NR1I3_uc001gaa.2_Silent_p.A25A|NR1I3_uc001gab.2_Silent_p.A25A|NR1I3_uc001gac.2_Intron|NR1I3_uc010pkm.1_Intron|NR1I3_uc010pkn.1_Silent_p.A25A	0,1,1				p.A25A	NM_001077480	NP_001070948			0,1,1	NR1I3_HUMAN	NR1I3	HGNC	Q14994	NR1I3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)				2	278	-	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		UPI000035CC50	25			NR C4-type.|Nuclear receptor.		SNV	NR1I3,synonymous_variant,p.=,ENST00000367983,;NR1I3,synonymous_variant,p.=,ENST00000367980,NM_001077481.2,NM_001077469.2,NM_005122.4,NM_001077478.2,NM_001077480.2,NM_001077482.2;NR1I3,synonymous_variant,p.=,ENST00000367982,;NR1I3,synonymous_variant,p.=,ENST00000428574,;NR1I3,synonymous_variant,p.=,ENST00000442691,;NR1I3,synonymous_variant,p.=,ENST00000515452,;NR1I3,synonymous_variant,p.=,ENST00000367985,;NR1I3,synonymous_variant,p.=,ENST00000367979,;NR1I3,synonymous_variant,p.=,ENST00000367984,NM_001077471.2;NR1I3,synonymous_variant,p.=,ENST00000505005,NM_001077474.2;NR1I3,synonymous_variant,p.=,ENST00000502985,;NR1I3,synonymous_variant,p.=,ENST00000511944,;NR1I3,intron_variant,,ENST00000506209,;NR1I3,intron_variant,,ENST00000515621,;NR1I3,intron_variant,,ENST00000367981,NM_001077472.2;NR1I3,intron_variant,,ENST00000511676,NM_001077479.2;NR1I3,intron_variant,,ENST00000412844,NM_001077473.2;NR1I3,intron_variant,,ENST00000508740,NM_001077476.2;NR1I3,intron_variant,,ENST00000437437,NM_001077477.2;NR1I3,intron_variant,,ENST00000504010,NM_001077470.2;NR1I3,intron_variant,,ENST00000512372,NM_001077475.2;NR1I3,intron_variant,,ENST00000508387,;NR1I3,intron_variant,,ENST00000511748,;NR1I3,intron_variant,,ENST00000503547,;NR1I3,upstream_gene_variant,,ENST00000488651,;NR1I3,synonymous_variant,p.=,ENST00000502848,;NR1I3,non_coding_transcript_exon_variant,,ENST00000491193,;NR1I3,intron_variant,,ENST00000506018,;NR1I3,intron_variant,,ENST00000512340,;NR1I3,intron_variant,,ENST00000505944,;NR1I3,intron_variant,,ENST00000510951,;NR1I3,intron_variant,,ENST00000507215,;	uc001fzx.2	c.75G>A	231/1322	1	1			c.75G>A						1	SNP	c.(73-75)GCG>GCA	8	8			ovary(1)|skin(1)	2	Broad	constitutive androstane receptor isoform 2			161206281		0.532	ENSG00000143257	10432	g.chr1:161206281C>T	regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding							68.941852	KEEP	32	27	-1	54	72	32	27	-1	74.532306	54	72	0.265487	1	0	0	0	0	0	0	1	0	--	--		0	T			TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Silent_p.A25A|NR1I3_uc001fzg.2_Intron|NR1I3_uc001fzh.2_Intron|NR1I3_uc001fzi.2_Intron|NR1I3_uc001fzj.2_Intron|NR1I3_uc001fzk.2_Intron|NR1I3_uc001fzl.2_Intron|NR1I3_uc001fzm.2_Intron|NR1I3_uc001fzn.2_5'UTR|NR1I3_uc009wug.2_Intron|NR1I3_uc001fzp.2_Silent_p.A25A|NR1I3_uc001fzo.2_Intron|NR1I3_uc001fzq.2_Silent_p.A25A|NR1I3_uc001fzr.2_Silent_p.A25A|NR1I3_uc001fzs.2_Intron|NR1I3_uc001fzt.2_Intron|NR1I3_uc001fzu.2_Intron|NR1I3_uc001fzv.2_Intron|NR1I3_uc001fzw.2_Silent_p.A25A|NR1I3_uc001fzy.2_Silent_p.A25A|NR1I3_uc001fzz.2_Silent_p.A25A|NR1I3_uc001gaa.2_Silent_p.A25A|NR1I3_uc001gab.2_Silent_p.A25A|NR1I3_uc001gac.2_Intron|NR1I3_uc010pkm.1_Intron|NR1I3_uc010pkn.1_Silent_p.A25A	1	GBM-02-0003-TP	p.A25A	C	CACAAGTCAGCGCATTAAAGT	NM_001077480	NP_001070948	161206281	Q14994	NR1I3_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.00376)		2	278	-	T	T	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		Silent	25			NR C4-type.|Nuclear receptor.			
NR1I3	9970	broad.mit.edu	GRCh37	1	161202999	161203000	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	rs139473535	by1000genomes	TCGA-06-0241-01	TCGA-06-0241-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367980.2:c.367dup	p.Arg123ProfsTer8	p.R123Pfs*8	ENST00000367980	NM_001077481.2	123	cgc/cCgc	0			1			G	R/PX	uc001fzx.2	protein_coding		CCDS41430.1			367-368/1059									ovary(1)|skin(1)	2	c.(367-369)CGCfs			Gene3D:1.10.565.10,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF231,Superfamily_domains:SSF48508	constitutive androstane receptor isoform 2				ENSP00000356961		9-Apr										9-Apr	.		ENST00000367982	Transcript			regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding	ENSG00000143257	g.chr1:161202999_161203000insG	7969			HIGH								--	--	1																																		TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Frame_Shift_Ins_p.R123fs|NR1I3_uc001fzg.2_Frame_Shift_Ins_p.R94fs|NR1I3_uc001fzh.2_Frame_Shift_Ins_p.R94fs|NR1I3_uc001fzi.2_Frame_Shift_Ins_p.R94fs|NR1I3_uc001fzj.2_Frame_Shift_Ins_p.R94fs|NR1I3_uc001fzk.2_Frame_Shift_Ins_p.R94fs|NR1I3_uc001fzl.2_Frame_Shift_Ins_p.R94fs|NR1I3_uc001fzm.2_Frame_Shift_Ins_p.R48fs|NR1I3_uc001fzn.2_Intron|NR1I3_uc009wug.2_Intron|NR1I3_uc001fzp.2_Frame_Shift_Ins_p.R123fs|NR1I3_uc001fzo.2_Intron|NR1I3_uc001fzq.2_Intron|NR1I3_uc001fzr.2_Intron|NR1I3_uc001fzs.2_Intron|NR1I3_uc001fzt.2_Intron|NR1I3_uc001fzu.2_Intron|NR1I3_uc001fzv.2_Intron|NR1I3_uc001fzw.2_Frame_Shift_Ins_p.R123fs|NR1I3_uc001fzy.2_Frame_Shift_Ins_p.R123fs|NR1I3_uc001fzz.2_Frame_Shift_Ins_p.R123fs|NR1I3_uc001gaa.2_Frame_Shift_Ins_p.R123fs|NR1I3_uc001gab.2_Frame_Shift_Ins_p.R123fs|NR1I3_uc001gac.2_Frame_Shift_Ins_p.R94fs|NR1I3_uc010pkm.1_Frame_Shift_Ins_p.R94fs|NR1I3_uc010pkn.1_Frame_Shift_Ins_p.R123fs					p.R123fs	NM_001077480	NP_001070948				NR1I3_HUMAN	NR1I3	HGNC	Q14994	NR1I3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)				4	570_571	-	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		UPI000035CC50	123					insertion	NR1I3,frameshift_variant,p.Arg123ProfsTer8,ENST00000367983,;NR1I3,frameshift_variant,p.Arg94ProfsTer8,ENST00000506209,;NR1I3,frameshift_variant,p.Arg123ProfsTer8,ENST00000367980,NM_001077481.2,NM_001077469.2,NM_005122.4,NM_001077478.2,NM_001077480.2,NM_001077482.2;NR1I3,frameshift_variant,p.Arg123ProfsTer8,ENST00000367982,;NR1I3,frameshift_variant,p.Arg48ProfsTer8,ENST00000515621,;NR1I3,frameshift_variant,p.Arg123ProfsTer8,ENST00000428574,;NR1I3,frameshift_variant,p.Arg123ProfsTer8,ENST00000442691,;NR1I3,frameshift_variant,p.Arg123ProfsTer8,ENST00000515452,;NR1I3,frameshift_variant,p.Arg94ProfsTer8,ENST00000367981,NM_001077472.2;NR1I3,frameshift_variant,p.Arg123ProfsTer8,ENST00000367979,;NR1I3,frameshift_variant,p.Arg123ProfsTer8,ENST00000367985,;NR1I3,frameshift_variant,p.Arg94ProfsTer8,ENST00000511676,NM_001077479.2;NR1I3,frameshift_variant,p.Arg123ProfsTer8,ENST00000367984,NM_001077471.2;NR1I3,frameshift_variant,p.Arg94ProfsTer8,ENST00000412844,NM_001077473.2;NR1I3,frameshift_variant,p.Arg123ProfsTer8,ENST00000505005,NM_001077474.2;NR1I3,frameshift_variant,p.Arg94ProfsTer8,ENST00000508740,NM_001077476.2;NR1I3,frameshift_variant,p.Arg94ProfsTer8,ENST00000437437,NM_001077477.2;NR1I3,frameshift_variant,p.Arg94ProfsTer8,ENST00000504010,NM_001077470.2;NR1I3,frameshift_variant,p.Arg94ProfsTer8,ENST00000512372,NM_001077475.2;NR1I3,intron_variant,,ENST00000502985,;NR1I3,intron_variant,,ENST00000508387,;NR1I3,intron_variant,,ENST00000511944,;NR1I3,intron_variant,,ENST00000511748,;TOMM40L,downstream_gene_variant,,ENST00000367988,NM_032174.4;TOMM40L,downstream_gene_variant,,ENST00000367987,;TOMM40L,downstream_gene_variant,,ENST00000545897,NM_001286373.1;NR1I3,intron_variant,,ENST00000503547,;TOMM40L,downstream_gene_variant,,ENST00000474486,;TOMM40L,downstream_gene_variant,,ENST00000492482,;TOMM40L,downstream_gene_variant,,ENST00000470426,;NR1I3,upstream_gene_variant,,ENST00000479324,;TOMM40L,downstream_gene_variant,,ENST00000465512,;NR1I3,upstream_gene_variant,,ENST00000488651,;TOMM40L,downstream_gene_variant,,ENST00000475793,;NR1I3,upstream_gene_variant,,ENST00000464422,;TOMM40L,downstream_gene_variant,,ENST00000468803,;NR1I3,frameshift_variant,p.Arg94ProfsTer8,ENST00000506018,;NR1I3,intron_variant,,ENST00000502848,;NR1I3,intron_variant,,ENST00000512340,;NR1I3,intron_variant,,ENST00000505944,;NR1I3,intron_variant,,ENST00000510951,;NR1I3,intron_variant,,ENST00000507215,;NR1I3,downstream_gene_variant,,ENST00000491193,;	uc001fzx.2	c.367_368insC	523-524/1322	5	5			c.367_368insC						1	INS	c.(367-369)CGCfs	1	1			ovary(1)|skin(1)	2	Broad	constitutive androstane receptor isoform 2			161203000		0.564	ENSG00000143257	10432	g.chr1:161202999_161203000insG	regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding																				0.02	1	0	0	1	1	0	0	0	0	--	--		0	G			TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Frame_Shift_Ins_p.R123fs|NR1I3_uc001fzg.2_Frame_Shift_Ins_p.R94fs|NR1I3_uc001fzh.2_Frame_Shift_Ins_p.R94fs|NR1I3_uc001fzi.2_Frame_Shift_Ins_p.R94fs|NR1I3_uc001fzj.2_Frame_Shift_Ins_p.R94fs|NR1I3_uc001fzk.2_Frame_Shift_Ins_p.R94fs|NR1I3_uc001fzl.2_Frame_Shift_Ins_p.R94fs|NR1I3_uc001fzm.2_Frame_Shift_Ins_p.R48fs|NR1I3_uc001fzn.2_Intron|NR1I3_uc009wug.2_Intron|NR1I3_uc001fzp.2_Frame_Shift_Ins_p.R123fs|NR1I3_uc001fzo.2_Intron|NR1I3_uc001fzq.2_Intron|NR1I3_uc001fzr.2_Intron|NR1I3_uc001fzs.2_Intron|NR1I3_uc001fzt.2_Intron|NR1I3_uc001fzu.2_Intron|NR1I3_uc001fzv.2_Intron|NR1I3_uc001fzw.2_Frame_Shift_Ins_p.R123fs|NR1I3_uc001fzy.2_Frame_Shift_Ins_p.R123fs|NR1I3_uc001fzz.2_Frame_Shift_Ins_p.R123fs|NR1I3_uc001gaa.2_Frame_Shift_Ins_p.R123fs|NR1I3_uc001gab.2_Frame_Shift_Ins_p.R123fs|NR1I3_uc001gac.2_Frame_Shift_Ins_p.R94fs|NR1I3_uc010pkm.1_Frame_Shift_Ins_p.R94fs|NR1I3_uc010pkn.1_Frame_Shift_Ins_p.R123fs	57	GBM-06-0241-TP	p.R123fs	-	GCCCATGTGGCGGGTGTGGGCC	NM_001077480	NP_001070948	161202999	Q14994	NR1I3_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	570_571	-	G	G	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		Frame_Shift_Ins	123						
NR1I3	0	broad.mit.edu	GRCh37	1	161203002	161203002	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0740-01	TCGA-14-0740-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367982.4:c.365C>T	p.Thr122Ile	p.T122I	ENST00000367982		122	aCc/aTc	0	C:0		1			A	T/I	uc001fzx.2	protein_coding		CCDS41430.1			365/1059									ovary(1)|skin(1)	2	c.(364-366)ACC>ATC			Gene3D:1.10.565.10,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF231,Superfamily_domains:SSF48508	constitutive androstane receptor isoform 2			C:0.0002	ENSP00000356961		9-Apr	8.24E-06							6.06E-05	rs372603248,COSM3399916,COSM3399918,COSM3399917	9-Apr	.		ENST00000367982	Transcript			regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding	ENSG00000143257	g.chr1:161203002G>A	7969			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=NR1I3_HUMAN&rb=79&re=153&var=T122I	getma.org/pdb.php?prot=NR1I3_HUMAN&from=79&to=153&var=T122I	getma.org/?cm=var&var=hg19,1,161203002,G,A&fts=all	T122I	--	--	1																																		TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Missense_Mutation_p.T122I|NR1I3_uc001fzg.2_Missense_Mutation_p.T93I|NR1I3_uc001fzh.2_Missense_Mutation_p.T93I|NR1I3_uc001fzi.2_Missense_Mutation_p.T93I|NR1I3_uc001fzj.2_Missense_Mutation_p.T93I|NR1I3_uc001fzk.2_Missense_Mutation_p.T93I|NR1I3_uc001fzl.2_Missense_Mutation_p.T93I|NR1I3_uc001fzm.2_Missense_Mutation_p.T47I|NR1I3_uc001fzn.2_Intron|NR1I3_uc009wug.2_Intron|NR1I3_uc001fzp.2_Missense_Mutation_p.T122I|NR1I3_uc001fzo.2_Intron|NR1I3_uc001fzq.2_Intron|NR1I3_uc001fzr.2_Intron|NR1I3_uc001fzs.2_Intron|NR1I3_uc001fzt.2_Intron|NR1I3_uc001fzu.2_Intron|NR1I3_uc001fzv.2_Intron|NR1I3_uc001fzw.2_Missense_Mutation_p.T122I|NR1I3_uc001fzy.2_Missense_Mutation_p.T122I|NR1I3_uc001fzz.2_Missense_Mutation_p.T122I|NR1I3_uc001gaa.2_Missense_Mutation_p.T122I|NR1I3_uc001gab.2_Missense_Mutation_p.T122I|NR1I3_uc001gac.2_Missense_Mutation_p.T93I|NR1I3_uc010pkm.1_Missense_Mutation_p.T93I|NR1I3_uc010pkn.1_Missense_Mutation_p.T122I	0,1,1,1			benign(0.008)	p.T122I	NM_001077480	NP_001070948		tolerated(0.12)	0,1,1,1	NR1I3_HUMAN	NR1I3	HGNC	Q14994	NR1I3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)				4	568	-	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		UPI000035CC50	122					SNV	NR1I3,missense_variant,p.Thr122Ile,ENST00000367983,;NR1I3,missense_variant,p.Thr93Ile,ENST00000506209,;NR1I3,missense_variant,p.Thr122Ile,ENST00000367980,NM_001077481.2,NM_001077469.2,NM_005122.4,NM_001077478.2,NM_001077480.2,NM_001077482.2;NR1I3,missense_variant,p.Thr122Ile,ENST00000367982,;NR1I3,missense_variant,p.Thr47Ile,ENST00000515621,;NR1I3,missense_variant,p.Thr122Ile,ENST00000428574,;NR1I3,missense_variant,p.Thr122Ile,ENST00000442691,;NR1I3,missense_variant,p.Thr122Ile,ENST00000515452,;NR1I3,missense_variant,p.Thr93Ile,ENST00000367981,NM_001077472.2;NR1I3,missense_variant,p.Thr122Ile,ENST00000367979,;NR1I3,missense_variant,p.Thr122Ile,ENST00000367985,;NR1I3,missense_variant,p.Thr93Ile,ENST00000511676,NM_001077479.2;NR1I3,missense_variant,p.Thr122Ile,ENST00000367984,NM_001077471.2;NR1I3,missense_variant,p.Thr93Ile,ENST00000412844,NM_001077473.2;NR1I3,missense_variant,p.Thr122Ile,ENST00000505005,NM_001077474.2;NR1I3,missense_variant,p.Thr93Ile,ENST00000508740,NM_001077476.2;NR1I3,missense_variant,p.Thr93Ile,ENST00000437437,NM_001077477.2;NR1I3,missense_variant,p.Thr93Ile,ENST00000504010,NM_001077470.2;NR1I3,missense_variant,p.Thr93Ile,ENST00000512372,NM_001077475.2;NR1I3,intron_variant,,ENST00000502985,;NR1I3,intron_variant,,ENST00000508387,;NR1I3,intron_variant,,ENST00000511944,;NR1I3,intron_variant,,ENST00000511748,;TOMM40L,downstream_gene_variant,,ENST00000367988,NM_032174.4;TOMM40L,downstream_gene_variant,,ENST00000367987,;TOMM40L,downstream_gene_variant,,ENST00000545897,NM_001286373.1;NR1I3,intron_variant,,ENST00000503547,;TOMM40L,downstream_gene_variant,,ENST00000474486,;TOMM40L,downstream_gene_variant,,ENST00000492482,;TOMM40L,downstream_gene_variant,,ENST00000470426,;NR1I3,upstream_gene_variant,,ENST00000479324,;TOMM40L,downstream_gene_variant,,ENST00000465512,;NR1I3,upstream_gene_variant,,ENST00000488651,;TOMM40L,downstream_gene_variant,,ENST00000475793,;NR1I3,upstream_gene_variant,,ENST00000464422,;TOMM40L,downstream_gene_variant,,ENST00000468803,;NR1I3,missense_variant,p.Thr93Ile,ENST00000506018,;NR1I3,intron_variant,,ENST00000502848,;NR1I3,intron_variant,,ENST00000512340,;NR1I3,intron_variant,,ENST00000505944,;NR1I3,intron_variant,,ENST00000510951,;NR1I3,intron_variant,,ENST00000507215,;NR1I3,downstream_gene_variant,,ENST00000491193,;	uc001fzx.2	c.365C>T	521/1322	2	2			c.365C>T						1	SNP	c.(364-366)ACC>ATC	33	33			ovary(1)|skin(1)	2	Broad	constitutive androstane receptor isoform 2			161203002		0.557	ENSG00000143257	10432	g.chr1:161203002G>A	regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding							174.000549	KEEP	38	32	-1	80	67	38	32	-1	175.467161	80	67	0.397516	1	0	0	0	0	1	0	0	0	--	--		0	A			TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Missense_Mutation_p.T122I|NR1I3_uc001fzg.2_Missense_Mutation_p.T93I|NR1I3_uc001fzh.2_Missense_Mutation_p.T93I|NR1I3_uc001fzi.2_Missense_Mutation_p.T93I|NR1I3_uc001fzj.2_Missense_Mutation_p.T93I|NR1I3_uc001fzk.2_Missense_Mutation_p.T93I|NR1I3_uc001fzl.2_Missense_Mutation_p.T93I|NR1I3_uc001fzm.2_Missense_Mutation_p.T47I|NR1I3_uc001fzn.2_Intron|NR1I3_uc009wug.2_Intron|NR1I3_uc001fzp.2_Missense_Mutation_p.T122I|NR1I3_uc001fzo.2_Intron|NR1I3_uc001fzq.2_Intron|NR1I3_uc001fzr.2_Intron|NR1I3_uc001fzs.2_Intron|NR1I3_uc001fzt.2_Intron|NR1I3_uc001fzu.2_Intron|NR1I3_uc001fzv.2_Intron|NR1I3_uc001fzw.2_Missense_Mutation_p.T122I|NR1I3_uc001fzy.2_Missense_Mutation_p.T122I|NR1I3_uc001fzz.2_Missense_Mutation_p.T122I|NR1I3_uc001gaa.2_Missense_Mutation_p.T122I|NR1I3_uc001gab.2_Missense_Mutation_p.T122I|NR1I3_uc001gac.2_Missense_Mutation_p.T93I|NR1I3_uc010pkm.1_Missense_Mutation_p.T93I|NR1I3_uc010pkn.1_Missense_Mutation_p.T122I	132	GBM-14-0740-TP	p.T122I	G	CATGTGGCGGGTGTGGGCCCC	NM_001077480	NP_001070948	161203002	Q14994	NR1I3_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	568	-	A	A	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		Missense_Mutation	122						
NR2C1	7181	broad.mit.edu	GRCh37	12	95442924	95442924	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs149986233		TCGA-06-5417-01	TCGA-06-5417-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333003.5:c.1051C>A	p.His351Asn	p.H351N	ENST00000333003	NM_003297.3	351	Cac/Aac	0			1			T	H/N	uc001tdm.3	protein_coding	YES	CCDS9051.1			1051/1812									ovary(1)	1	c.(1051-1053)CAC>AAC			hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF49	nuclear receptor subfamily 2, group C, member 1				ENSP00000333275		14-Sep									COSM2153278,COSM2153279	14-Sep	.		ENST00000333003	Transcript			regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	ENSG00000120798	g.chr12:95442924G>T	7971			MODERATE		1.095	low	getma.org/?cm=msa&ty=f&p=NR2C1_HUMAN&rb=181&re=372&var=H351N	NA	getma.org/?cm=var&var=hg19,12,95442924,G,T&fts=all	H351N	--	--	1																																		NR2C1_uc010suu.1_Missense_Mutation_p.H351N|NR2C1_uc001tdo.3_Missense_Mutation_p.H351N|NR2C1_uc001tdn.3_Missense_Mutation_p.H351N	1,1	1		benign(0.001)	p.H351N	NM_003297	NP_003288		tolerated(0.26)	1,1	NR2C1_HUMAN	NR2C1	HGNC	P13056	NR2C1_HUMAN			H9NIM2_HUMAN		9	1307	-			UPI00001AE7E6	351					SNV	NR2C1,missense_variant,p.His351Asn,ENST00000333003,NM_003297.3;NR2C1,missense_variant,p.His351Asn,ENST00000330677,NM_001127362.1;NR2C1,missense_variant,p.His351Asn,ENST00000393101,NM_001032287.2;NR2C1,non_coding_transcript_exon_variant,,ENST00000545833,;NR2C1,non_coding_transcript_exon_variant,,ENST00000548252,;NR2C1,intron_variant,,ENST00000547594,;NR2C1,non_coding_transcript_exon_variant,,ENST00000552861,;NR2C1,non_coding_transcript_exon_variant,,ENST00000546416,;NR2C1,intron_variant,,ENST00000552791,;	uc001tdm.3	c.1051C>A	1382/4143	2	2			c.1051C>A						12	SNP	c.(1051-1053)CAC>AAC	41	41			ovary(1)	1	Broad	nuclear receptor subfamily 2, group C, member 1			95442924		0.443	ENSG00000120798	10433	g.chr12:95442924G>T	regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding							137.020555	KEEP	18	29	0.382978723	40	45	18	29	0.382978723	138.833494	40	45	0.370968	1	0	0	0	0	1	0	0	0	--	--		0	T			NR2C1_uc010suu.1_Missense_Mutation_p.H351N|NR2C1_uc001tdo.3_Missense_Mutation_p.H351N|NR2C1_uc001tdn.3_Missense_Mutation_p.H351N	99	GBM-06-5417-TP	p.H351N	G	GTGATTAGGTGTACACTTCCT	NM_003297	NP_003288	95442924	P13056	NR2C1_HUMAN	0			9	1307	-	T	T			Missense_Mutation	351						
NR2C1	0	broad.mit.edu	GRCh37	12	95425195	95425195	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-5299-01	TCGA-12-5299-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333003.5:c.1323C>T	p.Cys441=	p.C441=	ENST00000333003	NM_003297.3	441	tgC/tgT	0			1			A	C	uc001tdm.3	protein_coding	YES	CCDS9051.1			1323/1812									ovary(1)	1	c.(1321-1323)TGC>TGT			hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF49,Gene3D:1.10.565.10,Pfam_domain:PF00104,SMART_domains:SM00430,Superfamily_domains:SSF48508	nuclear receptor subfamily 2, group C, member 1				ENSP00000333275		14-Nov									COSM3399188,COSM3399189	14-Nov	.		ENST00000333003	Transcript			regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	ENSG00000120798	g.chr12:95425195G>A	7971			LOW								--	--	1																																		NR2C1_uc010suu.1_Intron|NR2C1_uc001tdo.3_Silent_p.C441C|NR2C1_uc001tdn.3_Silent_p.C441C	1,1	1			p.C441C	NM_003297	NP_003288			1,1	NR2C1_HUMAN	NR2C1	HGNC	P13056	NR2C1_HUMAN			H9NIM2_HUMAN		11	1579	-			UPI00001AE7E6	441					SNV	NR2C1,synonymous_variant,p.=,ENST00000333003,NM_003297.3;NR2C1,synonymous_variant,p.=,ENST00000330677,NM_001127362.1;NR2C1,synonymous_variant,p.=,ENST00000393101,NM_001032287.2;NR2C1,intron_variant,,ENST00000551647,;NR2C1,non_coding_transcript_exon_variant,,ENST00000547594,;NR2C1,intron_variant,,ENST00000545833,;NR2C1,3_prime_UTR_variant,,ENST00000552791,;NR2C1,non_coding_transcript_exon_variant,,ENST00000546416,;NR2C1,intron_variant,,ENST00000552861,;NR2C1,upstream_gene_variant,,ENST00000552484,;	uc001tdm.3	c.1323C>T	1654/4143	2	2			c.1323C>T						12	SNP	c.(1321-1323)TGC>TGT	47	47			ovary(1)	1	Broad	nuclear receptor subfamily 2, group C, member 1			95425195		0.368	ENSG00000120798	10433	g.chr12:95425195G>A	regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding							-42.68678	KEEP	2	3	-1	99	111	2	3	-1	7.546081	99	111	0.020513	1	0	0	0	0	0	0	1	0	--	--		0	A			NR2C1_uc010suu.1_Intron|NR2C1_uc001tdo.3_Silent_p.C441C|NR2C1_uc001tdn.3_Silent_p.C441C	130	GBM-12-5299-TP	p.C441C	G	TCACTTGCCAGCACTGGGCAA	NM_003297	NP_003288	95425195	P13056	NR2C1_HUMAN	0			11	1579	-	A	A			Silent	441						
NR2C1	0	broad.mit.edu	GRCh37	12	95445680	95445680	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6285-01	TCGA-76-6285-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333003.5:c.823G>T	p.Val275Leu	p.V275L	ENST00000333003	NM_003297.3	275	Gtg/Ttg	0			1			A	V/L	uc001tdm.3	protein_coding	YES	CCDS9051.1			823/1812									ovary(1)	1	c.(823-825)GTG>TTG			hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF49	nuclear receptor subfamily 2, group C, member 1				ENSP00000333275		14-Aug									COSM3399190,COSM3399191	14-Aug	.		ENST00000333003	Transcript			regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	ENSG00000120798	g.chr12:95445680C>A	7971			MODERATE		2.28	medium	getma.org/?cm=msa&ty=f&p=NR2C1_HUMAN&rb=181&re=372&var=V275L	NA	getma.org/?cm=var&var=hg19,12,95445680,C,A&fts=all	V275L	--	--	1																																		NR2C1_uc010suu.1_Missense_Mutation_p.V275L|NR2C1_uc001tdo.3_Missense_Mutation_p.V275L|NR2C1_uc001tdn.3_Missense_Mutation_p.V275L	1,1	1		probably_damaging(0.986)	p.V275L	NM_003297	NP_003288		tolerated(0.12)	1,1	NR2C1_HUMAN	NR2C1	HGNC	P13056	NR2C1_HUMAN			H9NIM2_HUMAN		8	1079	-			UPI00001AE7E6	275					SNV	NR2C1,missense_variant,p.Val275Leu,ENST00000333003,NM_003297.3;NR2C1,missense_variant,p.Val275Leu,ENST00000330677,NM_001127362.1;NR2C1,missense_variant,p.Val275Leu,ENST00000393101,NM_001032287.2;NR2C1,non_coding_transcript_exon_variant,,ENST00000545833,;NR2C1,non_coding_transcript_exon_variant,,ENST00000547594,;NR2C1,non_coding_transcript_exon_variant,,ENST00000548252,;NR2C1,non_coding_transcript_exon_variant,,ENST00000552861,;NR2C1,upstream_gene_variant,,ENST00000546416,;NR2C1,upstream_gene_variant,,ENST00000552791,;	uc001tdm.3	c.823G>T	1154/4143	2	2			c.823G>T						12	SNP	c.(823-825)GTG>TTG	48	48			ovary(1)	1	Broad	nuclear receptor subfamily 2, group C, member 1			95445680		0.303	ENSG00000120798	10433	g.chr12:95445680C>A	regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding							78.865645	KEEP	11	18	0.620689655	26	10	11	18	0.620689655	78.964949	26	10	0.454545	1	0	0	0	0	1	0	0	0	--	--		0	A			NR2C1_uc010suu.1_Missense_Mutation_p.V275L|NR2C1_uc001tdo.3_Missense_Mutation_p.V275L|NR2C1_uc001tdn.3_Missense_Mutation_p.V275L	280	GBM-76-6285-TP	p.V275L	C	GATGTAACCACATTGGCCAAT	NM_003297	NP_003288	95445680	P13056	NR2C1_HUMAN	0			8	1079	-	A	A			Missense_Mutation	275						
NR2C2	7182	broad.mit.edu	GRCh37	3	15070193	15070193	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0747-01	TCGA-06-0747-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323373.6:c.956A>G	p.Gln319Arg	p.Q319R	ENST00000323373	NM_003298.3	319	cAg/cGg	0			1			G	Q/R	uc003bzj.3	protein_coding					899/1791										0	c.(898-900)CAG>CGG			hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF48	nuclear receptor subfamily 2, group C, member 2				ENSP00000376814		14-Aug									COSM3408346	14-Aug	.		ENST00000393102	Transcript			cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	ENSG00000177463	g.chr3:15070193A>G	7972			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=NR2C2_HUMAN&rb=185&re=365&var=Q300R	NA	getma.org/?cm=var&var=hg19,3,15070193,A,G&fts=all	Q300R	--	--	1																																		NR2C2_uc003bzi.2_Missense_Mutation_p.Q319R	1			benign(0.009)	p.Q300R	NM_003298	NP_003289		tolerated(0.14)	1	NR2C2_HUMAN	NR2C2	HGNC	P49116	NR2C2_HUMAN			C9JMI6_HUMAN		8	1116	+			UPI0000047515	300					SNV	NR2C2,missense_variant,p.Gln300Arg,ENST00000425241,;NR2C2,missense_variant,p.Gln319Arg,ENST00000323373,NM_003298.3;NR2C2,missense_variant,p.Gln300Arg,ENST00000393102,;NR2C2,missense_variant,p.Gln300Arg,ENST00000406272,;NR2C2,upstream_gene_variant,,ENST00000439011,;NR2C2,non_coding_transcript_exon_variant,,ENST00000478572,;NR2C2,non_coding_transcript_exon_variant,,ENST00000475707,;	uc003bzj.3	c.899A>G	1024/1937	3	3			c.899A>G						3	SNP	c.(898-900)CAG>CGG	52	52				0	Broad	nuclear receptor subfamily 2, group C, member 2			15070193		0.542	ENSG00000177463	10434	g.chr3:15070193A>G	cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding							-9.037139	KEEP	0	3	-1	42	29	0	3	-1	6.656325	42	29	0.042857	1	0	0	0	0	1	0	0	0	--	--		0	G			NR2C2_uc003bzi.2_Missense_Mutation_p.Q319R	68	GBM-06-0747-TP	p.Q300R	A	TCAGAAATCCAGCCAGAGGAC	NM_003298	NP_003289	15070193	P49116	NR2C2_HUMAN	0			8	1116	+	G	G			Missense_Mutation	300						
NR2F2	0	broad.mit.edu	GRCh37	15	96877485	96877485	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-2615-01	TCGA-32-2615-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394166.3:c.623G>C	p.Gly208Ala	p.G208A	ENST00000394166	NM_021005.3	208	gGt/gCt	0			1			C	G/A	uc010uri.1	protein_coding	YES	CCDS10375.1			623/1245									ovary(2)|breast(1)	3	c.(622-624)GGT>GCT			Gene3D:1.10.565.10,Pfam_domain:PF00104,Prints_domain:PR01282,hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF45,Superfamily_domains:SSF48508	nuclear receptor subfamily 2, group F, member 2				ENSP00000377721		3-Feb									COSM3402029,COSM3402030	3-Feb	.		ENST00000394166	Transcript	1		lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	ENSG00000185551	g.chr15:96877485G>C	7976			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=COT2_HUMAN&rb=191&re=387&var=G208A	getma.org/pdb.php?prot=COT2_HUMAN&from=191&to=387&var=G208A	getma.org/?cm=var&var=hg19,15,96877485,G,C&fts=all	G208A	--	--	1																																		NR2F2_uc002btp.2_Missense_Mutation_p.G75A|NR2F2_uc010urj.1_Missense_Mutation_p.G55A|NR2F2_uc010urk.1_Missense_Mutation_p.G55A	1,1	1		probably_damaging(0.989)	p.G208A	NM_021005	NP_066285		tolerated(0.06)	1,1	COT2_HUMAN	NR2F2	HGNC	P24468	COT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0856)		H3BTC2_HUMAN,F1D8R0_HUMAN		2	1847	+	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		UPI000000052E	208			Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).		SNV	NR2F2,missense_variant,p.Gly208Ala,ENST00000394166,NM_021005.3;NR2F2,missense_variant,p.Gly55Ala,ENST00000394171,NM_001145156.1;NR2F2,missense_variant,p.Gly75Ala,ENST00000421109,NM_001145155.1;NR2F2,missense_variant,p.Gly55Ala,ENST00000453270,;NR2F2,missense_variant,p.Gly55Ala,ENST00000559679,;MIR1469,downstream_gene_variant,,ENST00000410719,;	uc010uri.1	c.623G>C	2012/5275	3	3			c.623G>C						15	SNP	c.(622-624)GGT>GCT	1	1			ovary(2)|breast(1)	3	Broad	nuclear receptor subfamily 2, group F, member 2			96877485		0.602	ENSG00000185551	10439	g.chr15:96877485G>C	lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding							-47.686384	KEEP	4	6	-1	146	167	4	6	-1	13.705056	146	167	0.028	1	0	0	0	0	1	0	0	0	--	--		0	C			NR2F2_uc002btp.2_Missense_Mutation_p.G75A|NR2F2_uc010urj.1_Missense_Mutation_p.G55A|NR2F2_uc010urk.1_Missense_Mutation_p.G55A	239	GBM-32-2615-TP	p.G208A	G	AACATCATGGGTATCGAGAAC	NM_021005	NP_066285	96877485	P24468	COT2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(32;0.0856)		2	1847	+	C	C	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		Missense_Mutation	208			Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).			
NR4A1	0	broad.mit.edu	GRCh37	12	52448556	52448556	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-12-3652-01	TCGA-12-3652-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000243050.1:c.444G>T	p.Pro148=	p.P148=	ENST00000243050	NM_002135.4	148	ccG/ccT	0			1			T	P	uc001rzs.2	protein_coding		CCDS8818.1			444/1797										0	c.(442-444)CCG>CCT			Low_complexity_(Seg):seg,hmmpanther:PTHR24085:SF1,hmmpanther:PTHR24085,Prints_domain:PR01284	nuclear receptor subfamily 4, group A, member 1				ENSP00000243050		8-Mar									COSM3398810,COSM3398809,COSM3398811	8-Mar	.		ENST00000243050	Transcript			nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	ENSG00000123358	g.chr12:52448556G>T	7980			LOW								--	--	1																																		NR4A1_uc010sno.1_Silent_p.P161P|NR4A1_uc001rzr.2_Silent_p.P148P|NR4A1_uc009zmb.1_Silent_p.P148P|NR4A1_uc001rzt.2_Silent_p.P148P|NR4A1_uc009zmc.2_5'Flank	1,1,1				p.P148P	NM_002135	NP_002126			1,1,1	NR4A1_HUMAN	NR4A1	HGNC	P22736	NR4A1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	H3BPN8_HUMAN		3	758	+			UPI000013047C	148					SNV	NR4A1,synonymous_variant,p.=,ENST00000545748,;NR4A1,synonymous_variant,p.=,ENST00000243050,NM_002135.4;NR4A1,synonymous_variant,p.=,ENST00000394824,;NR4A1,synonymous_variant,p.=,ENST00000394825,NM_173157.2;NR4A1,synonymous_variant,p.=,ENST00000360284,NM_001202233.1;NR4A1,synonymous_variant,p.=,ENST00000550082,;NR4A1,synonymous_variant,p.=,ENST00000546842,;NR4A1,synonymous_variant,p.=,ENST00000548232,;NR4A1,synonymous_variant,p.=,ENST00000562373,;NR4A1,intron_variant,,ENST00000550763,;NR4A1,upstream_gene_variant,,ENST00000550582,;NR4A1,downstream_gene_variant,,ENST00000548977,;RP11-1100L3.8,downstream_gene_variant,,ENST00000564363,;RP11-1100L3.8,downstream_gene_variant,,ENST00000564531,;NR4A1,intron_variant,,ENST00000548733,;NR4A1,downstream_gene_variant,,ENST00000547206,;NR4A1,non_coding_transcript_exon_variant,,ENST00000550557,;NR4A1,non_coding_transcript_exon_variant,,ENST00000478250,;NR4A1,upstream_gene_variant,,ENST00000564201,;NR4A1,upstream_gene_variant,,ENST00000565848,;NR4A1,upstream_gene_variant,,ENST00000567890,;NR4A1,downstream_gene_variant,,ENST00000549102,;NR4A1,upstream_gene_variant,,ENST00000550339,;	uc001rzs.2	c.444G>T	758/2668	2	2			c.444G>T						12	SNP	c.(442-444)CCG>CCT	32	32				0	Broad	nuclear receptor subfamily 4, group A, member 1			52448556		0.677	ENSG00000123358	10443	g.chr12:52448556G>T	nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding							89.143126	KEEP	14	17	0.451612903	12	15	14	17	0.451612903	89.161123	12	15	0.519231	1	0	0	0	0	0	0	1	0	--	--		0	T			NR4A1_uc010sno.1_Silent_p.P161P|NR4A1_uc001rzr.2_Silent_p.P148P|NR4A1_uc009zmb.1_Silent_p.P148P|NR4A1_uc001rzt.2_Silent_p.P148P|NR4A1_uc009zmc.2_5'Flank	127	GBM-12-3652-TP	p.P148P	G	GCTTCCAGCCGCCCCAGCTCT	NM_002135	NP_002126	52448556	P22736	NR4A1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(357;0.0967)	3	758	+	T	T			Silent	148						
NR4A1	0	broad.mit.edu	GRCh37	12	52451031	52451031	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2528-01	TCGA-27-2528-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000243050.1:c.1349G>A	p.Arg450His	p.R450H	ENST00000243050	NM_002135.4	450	cGc/cAc	0			1			A	R/H	uc001rzs.2	protein_coding		CCDS8818.1			1349/1797										0	c.(1348-1350)CGC>CAC			hmmpanther:PTHR24085:SF1,hmmpanther:PTHR24085,Gene3D:1.10.565.10,Pfam_domain:PF00104,SMART_domains:SM00430,Superfamily_domains:SSF48508	nuclear receptor subfamily 4, group A, member 1				ENSP00000243050		8-Jun	8.24E-06					1.53E-05			rs770620910,COSM3398813,COSM3398812,COSM3398814	8-Jun	.		ENST00000243050	Transcript			nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	ENSG00000123358	g.chr12:52451031G>A	7980			MODERATE		3.275	medium	getma.org/?cm=msa&ty=f&p=NR4A1_HUMAN&rb=393&re=582&var=R450H	getma.org/pdb.php?prot=NR4A1_HUMAN&from=393&to=582&var=R450H	getma.org/?cm=var&var=hg19,12,52451031,G,A&fts=all	R450H	--	--	1																																		NR4A1_uc010sno.1_Missense_Mutation_p.R463H|NR4A1_uc001rzt.2_Missense_Mutation_p.R450H|NR4A1_uc009zmc.2_Missense_Mutation_p.A64T	0,1,1,1			probably_damaging(1)	p.R450H	NM_002135	NP_002126		deleterious(0.01)	0,1,1,1	NR4A1_HUMAN	NR4A1	HGNC	P22736	NR4A1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	H3BPN8_HUMAN		6	1663	+			UPI000013047C	450			Ligand-binding (Potential).		SNV	NR4A1,missense_variant,p.Arg504His,ENST00000545748,;NR4A1,missense_variant,p.Arg450His,ENST00000243050,NM_002135.4;NR4A1,missense_variant,p.Arg450His,ENST00000394824,;NR4A1,missense_variant,p.Arg450His,ENST00000394825,NM_173157.2;NR4A1,missense_variant,p.Arg463His,ENST00000360284,NM_001202233.1;NR4A1,missense_variant,p.Arg463His,ENST00000550082,;NR4A1,missense_variant,p.Ala52Thr,ENST00000550582,;NR4A1,downstream_gene_variant,,ENST00000546842,;NR4A1,downstream_gene_variant,,ENST00000548232,;NR4A1,downstream_gene_variant,,ENST00000562373,;NR4A1,downstream_gene_variant,,ENST00000550763,;NR4A1,downstream_gene_variant,,ENST00000548977,;RP11-1100L3.8,downstream_gene_variant,,ENST00000564363,;RP11-1100L3.8,downstream_gene_variant,,ENST00000564531,;NR4A1,non_coding_transcript_exon_variant,,ENST00000548733,;NR4A1,downstream_gene_variant,,ENST00000547206,;NR4A1,non_coding_transcript_exon_variant,,ENST00000550557,;NR4A1,non_coding_transcript_exon_variant,,ENST00000565848,;NR4A1,downstream_gene_variant,,ENST00000478250,;NR4A1,downstream_gene_variant,,ENST00000564201,;NR4A1,downstream_gene_variant,,ENST00000567890,;NR4A1,downstream_gene_variant,,ENST00000549102,;NR4A1,downstream_gene_variant,,ENST00000550339,;	uc001rzs.2	c.1349G>A	1663/2668	2	2			c.1349G>A						12	SNP	c.(1348-1350)CGC>CAC	24	24				0	Broad	nuclear receptor subfamily 4, group A, member 1			52451031		0.612	ENSG00000123358	10443	g.chr12:52451031G>A	nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding							35.467258	KEEP	6	8	-1	9	10	6	8	-1	35.584005	9	10	0.433333	1	0	0	0	0	1	0	0	0	--	--		0	A			NR4A1_uc010sno.1_Missense_Mutation_p.R463H|NR4A1_uc001rzt.2_Missense_Mutation_p.R450H|NR4A1_uc009zmc.2_Missense_Mutation_p.A64T	205	GBM-27-2528-TP	p.R450H	G	TTCATCCTCCGCCTGGCGTAC	NM_002135	NP_002126	52451031	P22736	NR4A1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(357;0.0967)	6	1663	+	A	A			Missense_Mutation	450			Ligand-binding (Potential).			
NR4A1	0	broad.mit.edu	GRCh37	12	52451228	52451228	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01	TCGA-32-4210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000243050.1:c.1454G>A	p.Ser485Asn	p.S485N	ENST00000243050	NM_002135.4	485	aGt/aAt	0			1			A	S/N	uc001rzs.2	protein_coding		CCDS8818.1			1454/1797										0	c.(1453-1455)AGT>AAT			hmmpanther:PTHR24085:SF1,hmmpanther:PTHR24085,Gene3D:1.10.565.10,Pfam_domain:PF00104,SMART_domains:SM00430,Superfamily_domains:SSF48508,Prints_domain:PR01284	nuclear receptor subfamily 4, group A, member 1				ENSP00000243050		8-Jul									COSM3398816,COSM3398815,COSM3398817	8-Jul	.		ENST00000243050	Transcript			nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	ENSG00000123358	g.chr12:52451228G>A	7980			MODERATE		2.25	medium	getma.org/?cm=msa&ty=f&p=NR4A1_HUMAN&rb=393&re=582&var=S485N	getma.org/pdb.php?prot=NR4A1_HUMAN&from=393&to=582&var=S485N	getma.org/?cm=var&var=hg19,12,52451228,G,A&fts=all	S485N	--	--	1																																		NR4A1_uc010sno.1_Missense_Mutation_p.S498N|NR4A1_uc001rzt.2_Missense_Mutation_p.S485N|NR4A1_uc009zmc.2_Missense_Mutation_p.V99I	1,1,1			benign(0.005)	p.S485N	NM_002135	NP_002126		deleterious(0.03)	1,1,1	NR4A1_HUMAN	NR4A1	HGNC	P22736	NR4A1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	H3BPN8_HUMAN		7	1768	+			UPI000013047C	485					SNV	NR4A1,missense_variant,p.Ser539Asn,ENST00000545748,;NR4A1,missense_variant,p.Ser485Asn,ENST00000243050,NM_002135.4;NR4A1,missense_variant,p.Ser485Asn,ENST00000394824,;NR4A1,missense_variant,p.Ser485Asn,ENST00000394825,NM_173157.2;NR4A1,missense_variant,p.Ser498Asn,ENST00000360284,NM_001202233.1;NR4A1,missense_variant,p.Ser498Asn,ENST00000550082,;NR4A1,missense_variant,p.Val87Ile,ENST00000550582,;NR4A1,downstream_gene_variant,,ENST00000546842,;NR4A1,downstream_gene_variant,,ENST00000548232,;NR4A1,downstream_gene_variant,,ENST00000562373,;NR4A1,downstream_gene_variant,,ENST00000550763,;NR4A1,downstream_gene_variant,,ENST00000548977,;RP11-1100L3.8,downstream_gene_variant,,ENST00000564363,;RP11-1100L3.8,downstream_gene_variant,,ENST00000564531,;NR4A1,downstream_gene_variant,,ENST00000547206,;NR4A1,downstream_gene_variant,,ENST00000548733,;NR4A1,non_coding_transcript_exon_variant,,ENST00000550557,;NR4A1,non_coding_transcript_exon_variant,,ENST00000565848,;NR4A1,downstream_gene_variant,,ENST00000478250,;NR4A1,downstream_gene_variant,,ENST00000564201,;NR4A1,downstream_gene_variant,,ENST00000567890,;NR4A1,downstream_gene_variant,,ENST00000549102,;NR4A1,downstream_gene_variant,,ENST00000550339,;	uc001rzs.2	c.1454G>A	1768/2668	2	2			c.1454G>A						12	SNP	c.(1453-1455)AGT>AAT	21	21				0	Broad	nuclear receptor subfamily 4, group A, member 1			52451228		0.612	ENSG00000123358	10443	g.chr12:52451228G>A	nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding							-17.563681	KEEP	4	0	-1	46	53	4	0	-1	6.397682	46	53	0.030303	1	0	0	0	0	1	0	0	0	--	--		0	A			NR4A1_uc010sno.1_Missense_Mutation_p.S498N|NR4A1_uc001rzt.2_Missense_Mutation_p.S485N|NR4A1_uc009zmc.2_Missense_Mutation_p.V99I	245	GBM-32-4210-TP	p.S485N	G	TGGATTGACAGTATCCTGGCC	NM_002135	NP_002126	52451228	P22736	NR4A1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(357;0.0967)	7	1768	+	A	A			Missense_Mutation	485						
NR4A3	0	broad.mit.edu	GRCh37	9	102590645	102590645	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-26-5134-01	TCGA-26-5134-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395097.2:c.321T>C	p.His107=	p.H107=	ENST00000395097	NM_173200.2	107	caT/caC	0			1			C	H	uc004baf.1	protein_coding		CCDS6743.1			321/1881	T		EWSR1		extraskeletal myxoid chondrosarcoma		EWSR1/NR4A3(140)|TAF15/NR4A3(33)		bone(173)	173	c.(319-321)CAT>CAC			hmmpanther:PTHR24085,hmmpanther:PTHR24085:SF2,Low_complexity_(Seg):seg	nuclear receptor subfamily 4, group A, member 3				ENSP00000378531		8-Mar									COSM3748397,COSM3748398	8-Mar	.		ENST00000395097	Transcript	1		regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	ENSG00000119508	g.chr9:102590645T>C	7982			LOW								--	--	1																																		NR4A3_uc004bae.2_Silent_p.H107H|NR4A3_uc004bag.1_Silent_p.H107H|NR4A3_uc004bai.2_Silent_p.H118H	1,1				p.H107H	NM_006981	NP_008912			1,1	NR4A3_HUMAN	NR4A3	HGNC	Q92570	NR4A3_HUMAN					3	1050	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	UPI000013CA3D	107			Poly-His.		SNV	NR4A3,synonymous_variant,p.=,ENST00000330847,;NR4A3,synonymous_variant,p.=,ENST00000395097,NM_173200.2,NM_006981.3;NR4A3,synonymous_variant,p.=,ENST00000338488,NM_173199.2;	uc004baf.1	c.321T>C	1050/3794	3	3			c.321T>C	T		EWSR1		extraskeletal myxoid chondrosarcoma	9	SNP	c.(319-321)CAT>CAC	3	3	EWSR1/NR4A3(140)|TAF15/NR4A3(33)		bone(173)	173	Broad	nuclear receptor subfamily 4, group A, member 3			102590645		0.493	ENSG00000119508	10445	g.chr9:102590645T>C	regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding			86			86	-10.259442	KEEP	4	1	-1	42	54	4	1	-1	7.48019	42	54	0.04878	1	0	0	0	0	0	0	1	0	--	--		0	C			NR4A3_uc004bae.2_Silent_p.H107H|NR4A3_uc004bag.1_Silent_p.H107H|NR4A3_uc004bai.2_Silent_p.H118H	183	GBM-26-5134-TP	p.H107H	T	accaccaccatcaccaGCAGC	NM_006981	NP_008912	102590645	Q92570	NR4A3_HUMAN	0			3	1050	+	C	C		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	Silent	107			Poly-His.			
NR5A2	0	broad.mit.edu	GRCh37	1	200017711	200017711	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-14-0871-01	TCGA-14-0871-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367362.3:c.875G>C	p.Ser292Thr	p.S292T	ENST00000367362	NM_205860.2	292	aGt/aCt	0			1			C	S/T	uc001gvb.2	protein_coding	YES	CCDS1401.1			875/1626									large_intestine(1)|ovary(1)	2	c.(874-876)AGT>ACT			PIRSF_domain:PIRSF002530,hmmpanther:PTHR24086,hmmpanther:PTHR24086:SF18	nuclear receptor subfamily 5, group A, member 2				ENSP00000356331		8-May									COSM3400178	8-May	.		ENST00000367362	Transcript			embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	ENSG00000116833	g.chr1:200017711G>C	7984			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=NR5A2_HUMAN&rb=154&re=323&var=S292T	NA	getma.org/?cm=var&var=hg19,1,200017711,G,C&fts=all	S292T	--	--	1																																		NR5A2_uc001gvc.2_Missense_Mutation_p.S246T|NR5A2_uc009wzh.2_Missense_Mutation_p.S252T|NR5A2_uc010pph.1_Missense_Mutation_p.S220T	1	1		benign(0.001)	p.S292T	NM_205860	NP_995582		tolerated(1)	1	NR5A2_HUMAN	NR5A2	HGNC	O00482	NR5A2_HUMAN			Q8WY08_HUMAN,B4E2P3_HUMAN		5	1081	+	Prostate(682;0.19)		UPI0000130482	292					SNV	NR5A2,missense_variant,p.Ser292Thr,ENST00000367362,NM_205860.2;NR5A2,missense_variant,p.Ser246Thr,ENST00000236914,NM_003822.4;NR5A2,missense_variant,p.Ser220Thr,ENST00000544748,NM_001276464.1;NR5A2,missense_variant,p.Ser213Thr,ENST00000367357,;NR5A2,downstream_gene_variant,,ENST00000474307,;	uc001gvb.2	c.875G>C	1121/5086	3	3			c.875G>C						1	SNP	c.(874-876)AGT>ACT	2	2			large_intestine(1)|ovary(1)	2	Broad	nuclear receptor subfamily 5, group A, member 2			200017711		0.488	ENSG00000116833	10447	g.chr1:200017711G>C	embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	Melanoma(179;1138 2773 15678 26136)			Melanoma(179;1138 2773 15678 26136)			343.909953	KEEP	55	60	-1	73	74	55	60	-1	344.729809	73	74	0.4375	1	0	0	0	0	1	0	0	0	--	--		0	C			NR5A2_uc001gvc.2_Missense_Mutation_p.S246T|NR5A2_uc009wzh.2_Missense_Mutation_p.S252T|NR5A2_uc010pph.1_Missense_Mutation_p.S220T	141	GBM-14-0871-TP	p.S292T	G	TATATGGATAGTTACCAGACG	NM_205860	NP_995582	200017711	O00482	NR5A2_HUMAN	0			5	1081	+	C	C	Prostate(682;0.19)		Missense_Mutation	292						
NRAP	0	broad.mit.edu	GRCh37	10	115388695	115388695	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01	TCGA-14-1450-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359988.3:c.2126C>T	p.Ala709Val	p.A709V	ENST00000359988	NM_001261463.1	709	gCt/gTt	0			1			A	A/V	uc001laj.2	protein_coding	YES	CCDS7579.1			2126/5193									ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10	c.(2125-2127)GCT>GTT			SMART_domains:SM00227,hmmpanther:PTHR11039,PROSITE_profiles:PS51216	nebulin-related anchoring protein isoform S				ENSP00000353078		20/42									COSM3396920	20/42	.		ENST00000359988	Transcript				fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	ENSG00000197893	g.chr10:115388695G>A	7988			MODERATE		3.17	medium	getma.org/?cm=msa&ty=f&p=NRAP_HUMAN&rb=593&re=731&var=A709V	NA	getma.org/?cm=var&var=hg19,10,115388695,G,A&fts=all	A709V	--	--	1																																		NRAP_uc009xyb.2_Missense_Mutation_p.A20V|NRAP_uc001lak.2_Missense_Mutation_p.A674V|NRAP_uc001lal.3_Missense_Mutation_p.A709V	1	1		benign(0.125)	p.A709V	NM_198060	NP_932326		deleterious(0)	1	NRAP_HUMAN	NRAP	HGNC	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)			20	2290	-		Colorectal(252;0.0233)|Breast(234;0.188)	UPI00001F9739	709			Nebulin 17.		SNV	NRAP,missense_variant,p.Ala717Val,ENST00000369358,;NRAP,missense_variant,p.Ala709Val,ENST00000359988,NM_001261463.1,NM_198060.3;NRAP,missense_variant,p.Ala682Val,ENST00000369360,;NRAP,missense_variant,p.Ala674Val,ENST00000360478,NM_006175.4;	uc001laj.2	c.2126C>T	2371/5580	1	1			c.2126C>T						10	SNP	c.(2125-2127)GCT>GTT	57	57			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10	Broad	nebulin-related anchoring protein isoform S			115388695		0.547	ENSG00000197893	10449	g.chr10:115388695G>A		fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding							25.062757	KEEP	7	6	-1	26	28	7	6	-1	29.292135	26	28	0.214286	1	0	0	0	0	1	0	0	0	--	--		0	A			NRAP_uc009xyb.2_Missense_Mutation_p.A20V|NRAP_uc001lak.2_Missense_Mutation_p.A674V|NRAP_uc001lal.3_Missense_Mutation_p.A709V	145	GBM-14-1450-TP	p.A709V	G	CAGCTGTCCAGCCTTCTTGGC	NM_198060	NP_932326	115388695	Q86VF7	NRAP_HUMAN	0		Epithelial(162;0.00392)|all cancers(201;0.00569)	20	2290	-	A	A		Colorectal(252;0.0233)|Breast(234;0.188)	Missense_Mutation	709			Nebulin 17.			
NRCAM	4897		GRCh37	7	107880546	107880546	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000379028.3:c.-38G>T		p.*13*	ENST00000379028				0																																																																																																																																																																																																																																												
NRG4	145957		GRCh37	15	76301577	76301577	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000394907.3:c.68G>T	p.Cys23Phe	p.C23F	ENST00000394907	NM_138573.3	23	tGt/tTt	0																																																																																																																																																																																																																																												
NRIP1	8204	broad.mit.edu	GRCh37	21	16340303	16340303	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5411-01	TCGA-06-5411-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400202.1:c.211C>T	p.His71Tyr	p.H71Y	ENST00000400202		71	Cat/Tat	0			1			A	H/Y	uc002yjx.2	protein_coding		CCDS13568.1			211/3477										0	c.(211-213)CAT>TAT			hmmpanther:PTHR15088	nuclear receptor interacting protein 1				ENSP00000327213		4-Apr									COSM3405319	4-Apr	.		ENST00000318948	Transcript			androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	ENSG00000180530	g.chr21:16340303G>A	8001			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=NRIP1_HUMAN&rb=1&re=954&var=H71Y	NA	getma.org/?cm=var&var=hg19,21,16340303,G,A&fts=all	H71Y	--	--	1																																			1			benign(0.175)	p.H71Y	NM_003489	NP_003480		tolerated(1)	1	NRIP1_HUMAN	NRIP1	HGNC	P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	N0GWB6_HUMAN,N0GW17_HUMAN,C9J130_HUMAN		4	809	-			UPI000004A0A8	71					SNV	NRIP1,missense_variant,p.His71Tyr,ENST00000400202,;NRIP1,missense_variant,p.His71Tyr,ENST00000400199,;NRIP1,missense_variant,p.His71Tyr,ENST00000318948,NM_003489.3;NRIP1,downstream_gene_variant,,ENST00000411932,;AF127577.11,upstream_gene_variant,,ENST00000436429,;AF127577.10,downstream_gene_variant,,ENST00000446301,;	uc002yjx.2	c.211C>T	809/7556	2	2			c.211C>T						21	SNP	c.(211-213)CAT>TAT	48	48				0	Broad	nuclear receptor interacting protein 1			16340303		0.458	ENSG00000180530	10463	g.chr21:16340303G>A	androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity							13.066527	KEEP	3	2	-1	6	7	3	2	-1	13.866773	6	7	0.277778	1	0	0	0	0	1	0	0	0	--	--		0	A				94	GBM-06-5411-TP	p.H71Y	G	TGATATGTATGTGTATTGAGA	NM_003489	NP_003480	16340303	P48552	NRIP1_HUMAN	0		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	4	809	-	A	A			Missense_Mutation	71						
NRK	203447	broad.mit.edu	GRCh37	X	105152945	105152945	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428173.2:c.1315C>T	p.Arg439Ter	p.R439*	ENST00000428173		439	Cga/Tga	0			1			T	R/*	uc004emd.2	protein_coding		CCDS65305.1			1312/4749									breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14	c.(1312-1314)CGA>TGA			hmmpanther:PTHR24361:SF216,hmmpanther:PTHR24361	Nik related kinase				ENSP00000434830		13/29									COSM456412,COSM456411	13/29	.		ENST00000243300	Transcript					ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	ENSG00000123572	g.chrX:105152945C>T	25391			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,X,105152945,C,T&fts=all	R438*	--	--	1				HNSCC(51;0.14)																														NRK_uc010npc.1_Nonsense_Mutation_p.R106*	1,1				p.R438*	NM_198465	NP_940867			1,1	NRK_HUMAN	NRK	HGNC	Q7Z2Y5	NRK_HUMAN			B7Z6I7_HUMAN		13	1615	+			UPI0000418886	438			Gln-rich.		SNV	NRK,stop_gained,p.Arg439Ter,ENST00000428173,;NRK,stop_gained,p.Arg438Ter,ENST00000243300,NM_198465.2;	uc004emd.2	c.1312C>T	1615/8062	5	2			c.1312C>T						23	SNP	c.(1312-1314)CGA>TGA	28	28			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14	Broad	Nik related kinase			105152945		0.557	ENSG00000123572	10466	g.chrX:105152945C>T			ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			430			430	69.023877	KEEP	14	11	-1	14	10	14	11	-1	69.069239	14	10	0.534884	1	0	0	0	0	0	1	0	0	--	--	HNSCC(51;0.14)	0	T			NRK_uc010npc.1_Nonsense_Mutation_p.R106*	46	GBM-06-0209-TP	p.R438*	C	GGCACCTCAACGACTACAAGG	NM_198465	NP_940867	105152945	Q7Z2Y5	NRK_HUMAN	0			13	1615	+	T	T			Nonsense_Mutation	438			Gln-rich.			
NRK	0	broad.mit.edu	GRCh37	X	105159747	105159747	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01	TCGA-19-2631-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000243300.9:c.2375C>T	p.Pro792Leu	p.P792L	ENST00000243300	NM_198465.2	792	cCt/cTt	0			1			T	P/L	uc004emd.2	protein_coding		CCDS65305.1			2375/4749									breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14	c.(2374-2376)CCT>CTT			hmmpanther:PTHR24361:SF216,hmmpanther:PTHR24361	Nik related kinase				ENSP00000434830		15/29									COSM3405807,COSM3405806	15/29	.		ENST00000243300	Transcript					ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	ENSG00000123572	g.chrX:105159747C>T	25391			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=NRK_HUMAN&rb=581&re=1169&var=P792L	NA	getma.org/?cm=var&var=hg19,X,105159747,C,T&fts=all	P792L	--	--	1				HNSCC(51;0.14)																														NRK_uc010npc.1_Missense_Mutation_p.P460L	1,1			benign(0.322)	p.P792L	NM_198465	NP_940867		deleterious(0)	1,1	NRK_HUMAN	NRK	HGNC	Q7Z2Y5	NRK_HUMAN			B7Z6I7_HUMAN		15	2678	+			UPI0000418886	792					SNV	NRK,missense_variant,p.Pro793Leu,ENST00000428173,;NRK,missense_variant,p.Pro792Leu,ENST00000243300,NM_198465.2;	uc004emd.2	c.2375C>T	2678/8062	1	1			c.2375C>T						23	SNP	c.(2374-2376)CCT>CTT	5	5			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14	Broad	Nik related kinase			105159747		0.313	ENSG00000123572	10466	g.chrX:105159747C>T			ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			430			430	98.220101	KEEP	20	26	-1	80	78	20	26	-1	107.659274	80	78	0.238411	1	0	0	0	0	1	0	0	0	--	--	HNSCC(51;0.14)	0	T			NRK_uc010npc.1_Missense_Mutation_p.P460L	167	GBM-19-2631-TP	p.P792L	C	CCTTCTGTGCCTAACAACCAG	NM_198465	NP_940867	105159747	Q7Z2Y5	NRK_HUMAN	0			15	2678	+	T	T			Missense_Mutation	792						
NRK	0	broad.mit.edu	GRCh37	X	105156744	105156744	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-28-5209-01	TCGA-28-5209-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000243300.9:c.2346T>G	p.Ile782Met	p.I782M	ENST00000243300	NM_198465.2	782	atT/atG	0			1			G	I/M	uc004emd.2	protein_coding		CCDS65305.1			2346/4749									breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14	c.(2344-2346)ATT>ATG			hmmpanther:PTHR24361:SF216,hmmpanther:PTHR24361	Nik related kinase				ENSP00000434830		14/29									COSM3405805,COSM3405804	14/29	.		ENST00000243300	Transcript					ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	ENSG00000123572	g.chrX:105156744T>G	25391			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=NRK_HUMAN&rb=581&re=1169&var=I782M	NA	getma.org/?cm=var&var=hg19,X,105156744,T,G&fts=all	I782M	--	--	1				HNSCC(51;0.14)																														NRK_uc010npc.1_Missense_Mutation_p.I450M	1,1			benign(0.095)	p.I782M	NM_198465	NP_940867		deleterious(0)	1,1	NRK_HUMAN	NRK	HGNC	Q7Z2Y5	NRK_HUMAN			B7Z6I7_HUMAN		14	2649	+			UPI0000418886	782					SNV	NRK,missense_variant,p.Ile783Met,ENST00000428173,;NRK,missense_variant,p.Ile782Met,ENST00000243300,NM_198465.2;	uc004emd.2	c.2346T>G	2649/8062	3	3			c.2346T>G						23	SNP	c.(2344-2346)ATT>ATG	55	55			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14	Broad	Nik related kinase			105156744		0.249	ENSG00000123572	10466	g.chrX:105156744T>G			ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			430			430	26.724021	KEEP	5	7	-1	6	5	5	7	-1	26.778288	6	5	0.4375	1	0	0	0	0	1	0	0	0	--	--	HNSCC(51;0.14)	0	G			NRK_uc010npc.1_Missense_Mutation_p.I450M	218	GBM-28-5209-TP	p.I782M	T	CTAAAAAAATTGAGGTAAATT	NM_198465	NP_940867	105156744	Q7Z2Y5	NRK_HUMAN	0			14	2649	+	G	G			Missense_Mutation	782						
NRL	4901	broad.mit.edu	GRCh37	14	24550696	24550696	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0171-01	TCGA-06-0171-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000561028.1:c.463G>C	p.Asp155His	p.D155H	ENST00000561028		155	Gac/Cac	0			1			G	D/H	uc001wlo.2	protein_coding		CCDS9608.1			463/714										0	c.(463-465)GAC>CAC			hmmpanther:PTHR10129,hmmpanther:PTHR10129:SF5,Pfam_domain:PF03131,Gene3D:1.10.880.10,Superfamily_domains:SSF47454	neural retina leucine zipper				ENSP00000380193		4-Apr									COSM3401250	4-Apr	.		ENST00000396997	Transcript	1		response to stimulus|transcription from RNA polymerase II promoter|visual perception	nucleus	leucine zipper domain binding|sequence-specific DNA binding	ENSG00000129535	g.chr14:24550696C>G	8002			MODERATE		2.455	medium	getma.org/?cm=msa&ty=f&p=NRL_HUMAN&rb=130&re=224&var=D155H	getma.org/pdb.php?prot=NRL_HUMAN&from=130&to=224&var=D155H	getma.org/?cm=var&var=hg19,14,24550696,C,G&fts=all	D155H	--	--	1																																		NRL_uc001wlp.2_Missense_Mutation_p.D155H|NRL_uc001wlq.2_Missense_Mutation_p.D155H	1			possibly_damaging(0.792)	p.D155H	NM_006177	NP_006168		deleterious(0)	1	NRL_HUMAN	NRL	HGNC	P54845	NRL_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	H0YNW2_HUMAN,A8MX14_HUMAN		3	594	-			UPI000000CC15	155					SNV	NRL,missense_variant,p.Asp155His,ENST00000561028,;NRL,missense_variant,p.Asp155His,ENST00000397002,NM_006177.3;NRL,missense_variant,p.Asp155His,ENST00000396997,;NRL,missense_variant,p.Asp16His,ENST00000396995,;NRL,missense_variant,p.Asp16His,ENST00000560550,;CPNE6,downstream_gene_variant,,ENST00000397016,NM_001280558.1;CPNE6,downstream_gene_variant,,ENST00000537691,;CPNE6,downstream_gene_variant,,ENST00000216775,NM_006032.3;NRL,downstream_gene_variant,,ENST00000558280,;CPNE6,downstream_gene_variant,,ENST00000460657,;CPNE6,downstream_gene_variant,,ENST00000558995,;CPNE6,downstream_gene_variant,,ENST00000557829,;CPNE6,downstream_gene_variant,,ENST00000560845,;	uc001wlo.2	c.463G>C	907/1517	3	3			c.463G>C						14	SNP	c.(463-465)GAC>CAC	61	61				0	Broad	neural retina leucine zipper			24550696		0.711	ENSG00000129535	10467	g.chr14:24550696C>G	response to stimulus|transcription from RNA polymerase II promoter|visual perception	nucleus	leucine zipper domain binding|sequence-specific DNA binding							6.145159	KEEP	1	2	-1	2	7	1	2	-1	6.783895	2	7	0.222222	1	0	0	0	0	1	0	0	0	--	--		0	G			NRL_uc001wlp.2_Missense_Mutation_p.D155H|NRL_uc001wlq.2_Missense_Mutation_p.D155H	35	GBM-06-0171-TP	p.D155H	C	AGCGCCTCGTCGCGCCCGCAG	NM_006177	NP_006168	24550696	P54845	NRL_HUMAN	0		GBM - Glioblastoma multiforme(265;0.0181)	3	594	-	G	G			Missense_Mutation	155						
NRN1	0	broad.mit.edu	GRCh37	6	5999377	5999377	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5951-01	TCGA-19-5951-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000244766.2:c.261G>A	p.Ala87=	p.A87=	ENST00000244766	NM_016588.2	87	gcG/gcA	0			1			T	A	uc003mwu.2	protein_coding	YES	CCDS4495.1			261/429										0	c.(259-261)GCG>GCA			Pfam_domain:PF15056,hmmpanther:PTHR15902,hmmpanther:PTHR15902:SF1	neuritin precursor				ENSP00000244766		3-Mar									COSM2156594	3-Mar	.		ENST00000244766	Transcript				anchored to membrane|plasma membrane		ENSG00000124785	g.chr6:5999377C>T	17972			LOW								--	--	1																																		NRN1_uc003mwt.2_Silent_p.A113A	1	1			p.A87A	NM_016588	NP_057672			1	NRN1_HUMAN	NRN1	HGNC	Q9NPD7	NRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.00415)			3	912	-	Ovarian(93;0.0816)	all_hematologic(90;0.151)	UPI000000D9BF	87					SNV	NRN1,synonymous_variant,p.=,ENST00000244766,NM_016588.2,NM_001278710.1;NRN1,non_coding_transcript_exon_variant,,ENST00000495850,;	uc003mwu.2	c.261G>A	479/1624	1	1			c.261G>A						6	SNP	c.(259-261)GCG>GCA	14	14				0	Broad	neuritin precursor			5999377		0.527	ENSG00000124785	10469	g.chr6:5999377C>T		anchored to membrane|plasma membrane								98.253594	KEEP	18	21	-1	20	17	18	21	-1	98.265247	20	17	0.484375	1	0	0	0	0	0	0	1	0	--	--		0	T			NRN1_uc003mwt.2_Silent_p.A113A	171	GBM-19-5951-TP	p.A87A	C	ACATATCTTTCGCCCCTTCCT	NM_016588	NP_057672	5999377	Q9NPD7	NRN1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(45;0.00415)	3	912	-	T	T	Ovarian(93;0.0816)	all_hematologic(90;0.151)	Silent	87						
NRP1	8829	broad.mit.edu	GRCh37	10	33545336	33545336	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-2485-01	TCGA-02-2485-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265371.4:c.722G>A	p.Gly241Asp	p.G241D	ENST00000265371		241	gGc/gAc	0			1			T	G/D	uc001iwx.3	protein_coding	YES	CCDS7177.1			722/2772									central_nervous_system(2)|ovary(1)|skin(1)	4	c.(721-723)GGC>GAC			Gene3D:2.60.120.290,Pfam_domain:PF00431,PIRSF_domain:PIRSF036960,PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF616,SMART_domains:SM00042,Superfamily_domains:SSF49854	neuropilin 1 isoform a	Palifermin(DB00039)|Pegaptanib(DB04895)			ENSP00000265371		18-Jun									COSM3397099,COSM3397101,COSM3397100,COSM3397102	18-Jun	.		ENST00000265371	Transcript			axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	ENSG00000099250	g.chr10:33545336C>T	8004			MODERATE		1.41	low	getma.org/?cm=msa&ty=f&p=NRP1_HUMAN&rb=147&re=262&var=G241D	getma.org/pdb.php?prot=NRP1_HUMAN&from=147&to=262&var=G241D	getma.org/?cm=var&var=hg19,10,33545336,C,T&fts=all	G241D	--	--	1																																		NRP1_uc001iwv.3_Missense_Mutation_p.G241D|NRP1_uc009xlz.2_Missense_Mutation_p.G241D|NRP1_uc001iww.3_Missense_Mutation_p.G60D|NRP1_uc001iwy.3_Missense_Mutation_p.G241D|NRP1_uc001iwz.2_Missense_Mutation_p.G241D|NRP1_uc001ixa.2_Missense_Mutation_p.G241D|NRP1_uc001ixb.1_Missense_Mutation_p.G241D|NRP1_uc001ixc.1_Missense_Mutation_p.G241D	1,1,1,1	1		probably_damaging(1)	p.G241D	NM_003873	NP_003864		deleterious(0)	1,1,1,1	NRP1_HUMAN	NRP1	HGNC	O14786	NRP1_HUMAN			Q9H2E0_HUMAN,Q9H2D9_HUMAN,Q9H2D8_HUMAN,Q9H2D7_HUMAN,Q7Z5M2_HUMAN		5	1245	-			UPI000013D60A	241			Extracellular (Potential).|CUB 2.		SNV	NRP1,missense_variant,p.Gly241Asp,ENST00000265371,;NRP1,missense_variant,p.Gly241Asp,ENST00000374867,NM_001244973.1,NM_003873.5,NM_001244972.1;NRP1,missense_variant,p.Gly60Asp,ENST00000374875,;NRP1,missense_variant,p.Gly241Asp,ENST00000432372,;NRP1,missense_variant,p.Gly241Asp,ENST00000374823,;NRP1,missense_variant,p.Gly241Asp,ENST00000374816,;NRP1,missense_variant,p.Gly241Asp,ENST00000395995,;NRP1,missense_variant,p.Gly241Asp,ENST00000374822,NM_001024628.2;NRP1,missense_variant,p.Gly241Asp,ENST00000374821,NM_001024629.2;NRP1,missense_variant,p.Gly42Asp,ENST00000455749,;	uc001iwx.3	c.722G>A	1248/5882	2	2			c.722G>A						10	SNP	c.(721-723)GGC>GAC	47	47			central_nervous_system(2)|ovary(1)|skin(1)	4	Broad	neuropilin 1 isoform a		Palifermin(DB00039)|Pegaptanib(DB04895)	33545336		0.483	ENSG00000099250	10471	g.chr10:33545336C>T	axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	Melanoma(104;886 1489 44640 45944 51153)			Melanoma(104;886 1489 44640 45944 51153)			-13.069674	KEEP	3	1	-1	47	39	3	1	-1	6.676446	47	39	0.044944	1	0	0	0	0	1	0	0	0	--	--		0	T			NRP1_uc001iwv.3_Missense_Mutation_p.G241D|NRP1_uc009xlz.2_Missense_Mutation_p.G241D|NRP1_uc001iww.3_Missense_Mutation_p.G60D|NRP1_uc001iwy.3_Missense_Mutation_p.G241D|NRP1_uc001iwz.2_Missense_Mutation_p.G241D|NRP1_uc001ixa.2_Missense_Mutation_p.G241D|NRP1_uc001ixb.1_Missense_Mutation_p.G241D|NRP1_uc001ixc.1_Missense_Mutation_p.G241D	7	GBM-02-2485-TP	p.G241D	C	GGAGAGAATGCCCGATGAGGA	NM_003873	NP_003864	33545336	O14786	NRP1_HUMAN	0			5	1245	-	T	T			Missense_Mutation	241			Extracellular (Potential).|CUB 2.			
NRXN1	0	broad.mit.edu	GRCh37	2	50765702	50765702	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-14-0871-01	TCGA-14-0871-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000406316.2:c.1832A>T	p.Asp611Val	p.D611V	ENST00000406316	NM_004801.4	611	gAt/gTt	0			1			A	D/V	uc010fbq.2	protein_coding		CCDS54360.1			1832/4434									ovary(2)	2	c.(1951-1953)GAT>GTT			Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,Low_complexity_(Seg):seg,SMART_domains:SM00282,Superfamily_domains:SSF49899	neurexin 1 isoform alpha2 precursor				ENSP00000384311		22-Oct									COSM3407901,COSM3407899,COSM3407902,COSM3407900	22-Oct	.		ENST00000406316	Transcript	1		angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	ENSG00000179915	g.chr2:50765702T>A	8008			MODERATE		1.98	medium	getma.org/?cm=msa&ty=f&p=NRX1A_HUMAN&rb=508&re=652&var=D611V	getma.org/pdb.php?prot=NRX1A_HUMAN&from=508&to=652&var=D611V	getma.org/?cm=var&var=hg19,2,50765702,T,A&fts=all	D611V	--	--	1																																		NRXN1_uc002rxb.3_Missense_Mutation_p.D283V|NRXN1_uc002rxe.3_Missense_Mutation_p.D611V|NRXN1_uc002rxc.1_RNA	1,1,1,1			probably_damaging(0.994)	p.D651V	NM_001135659	NP_001129131		deleterious(0)	1,1,1,1	NRX1A_HUMAN	NRXN1	HGNC	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		Q08AH0_HUMAN		10	3429	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	UPI0000130A9D	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					SNV	NRXN1,missense_variant,p.Asp651Val,ENST00000404971,NM_001135659.1;NRXN1,missense_variant,p.Asp611Val,ENST00000406316,NM_004801.4;NRXN1,missense_variant,p.Asp611Val,ENST00000401669,;NRXN1,missense_variant,p.Asp603Val,ENST00000405472,;NRXN1,missense_variant,p.Asp603Val,ENST00000402717,;NRXN1,missense_variant,p.Asp611Val,ENST00000406859,;NRXN1,non_coding_transcript_exon_variant,,ENST00000331040,;NRXN1,intron_variant,,ENST00000495871,;	uc010fbq.2	c.1952A>T	3309/7505	1	1			c.1952A>T						2	SNP	c.(1951-1953)GAT>GTT	62	62			ovary(2)	2	Broad	neurexin 1 isoform alpha2 precursor			50765702		0.527	ENSG00000179915	10476	g.chr2:50765702T>A	angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding							429.824227	KEEP	72	65	-1	27	18	72	65	-1	440.489764	27	18	0.757062	1	0	0	0	0	1	0	0	0	--	--		0	A			NRXN1_uc002rxb.3_Missense_Mutation_p.D283V|NRXN1_uc002rxe.3_Missense_Mutation_p.D611V|NRXN1_uc002rxc.1_RNA	141	GBM-14-0871-TP	p.D651V	T	GTACAACTCATCATCCAGGTC	NM_001135659	NP_001129131	50765702	P58400	NRX1B_HUMAN	0	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		10	3429	-	A	A		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Missense_Mutation	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						
NRXN1	0	broad.mit.edu	GRCh37	2	50850508	50850508	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs34326676		TCGA-27-2527-01	TCGA-27-2527-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000406316.2:c.1078G>A	p.Gly360Arg	p.G360R	ENST00000406316	NM_004801.4	360	Gga/Aga	0			1			T	G/R	uc010fbq.2	protein_coding		CCDS54360.1			1078/4434									ovary(2)	2	c.(1177-1179)GGA>AGA			Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,SMART_domains:SM00282,Superfamily_domains:SSF49899	neurexin 1 isoform alpha2 precursor				ENSP00000384311		22-Jun									COSM3407909,COSM3407907,COSM3407910,COSM3407908	22-Jun	.		ENST00000406316	Transcript	1		angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	ENSG00000179915	g.chr2:50850508C>T	8008			MODERATE		1.32	low	getma.org/?cm=msa&ty=f&p=NRX1A_HUMAN&rb=312&re=446&var=G360R	getma.org/pdb.php?prot=NRX1A_HUMAN&from=312&to=446&var=G360R	getma.org/?cm=var&var=hg19,2,50850508,C,T&fts=all	G360R	--	--	1																																		NRXN1_uc002rxb.3_Missense_Mutation_p.G40R|NRXN1_uc002rxe.3_Missense_Mutation_p.G360R|NRXN1_uc002rxc.1_RNA	1,1,1,1			benign(0.001)	p.G393R	NM_001135659	NP_001129131		tolerated(0.07)	1,1,1,1	NRX1A_HUMAN	NRXN1	HGNC	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		Q08AH0_HUMAN		6	2654	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	UPI0000130A9D	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					SNV	NRXN1,missense_variant,p.Gly393Arg,ENST00000404971,NM_001135659.1;NRXN1,missense_variant,p.Gly360Arg,ENST00000406316,NM_004801.4;NRXN1,missense_variant,p.Gly360Arg,ENST00000401669,;NRXN1,missense_variant,p.Gly360Arg,ENST00000405472,;NRXN1,missense_variant,p.Gly360Arg,ENST00000402717,;NRXN1,missense_variant,p.Gly360Arg,ENST00000406859,;NRXN1,non_coding_transcript_exon_variant,,ENST00000331040,;NRXN1,upstream_gene_variant,,ENST00000495871,;	uc010fbq.2	c.1177G>A	2555/7505	2	2			c.1177G>A						2	SNP	c.(1177-1179)GGA>AGA	34	34			ovary(2)	2	Broad	neurexin 1 isoform alpha2 precursor			50850508		0.458	ENSG00000179915	10476	g.chr2:50850508C>T	angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding							18.491984	KEEP	5	8	-1	38	60	5	8	-1	34.00675	38	60	0.119266	1	0	0	0	0	1	0	0	0	--	--		0	T			NRXN1_uc002rxb.3_Missense_Mutation_p.G40R|NRXN1_uc002rxe.3_Missense_Mutation_p.G360R|NRXN1_uc002rxc.1_RNA	204	GBM-27-2527-TP	p.G393R	C	TTAAACTTTCCATTCACAGGC	NM_001135659	NP_001129131	50850508	P58400	NRX1B_HUMAN	0	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		6	2654	-	T	T		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Missense_Mutation	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						
NRXN1	0	broad.mit.edu	GRCh37	2	50280492	50280492	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-32-2495-01	TCGA-32-2495-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000406316.2:c.3955A>C	p.Thr1319Pro	p.T1319P	ENST00000406316	NM_004801.4	1319	Aca/Cca	0			1			G	T/P	uc010fbp.2	protein_coding		CCDS54360.1			3955/4434									ovary(2)	2	c.(850-852)ACA>CCA			hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,Low_complexity_(Seg):seg	neurexin 1 isoform beta precursor				ENSP00000384311		20/22									COSM3407890,COSM3407892,COSM3407889,COSM3407893,COSM3407891	20/22	.		ENST00000406316	Transcript	1		angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	ENSG00000179915	g.chr2:50280492T>G	8008			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=NRX1B_HUMAN&rb=241&re=440&var=T284P	NA	getma.org/?cm=var&var=hg19,2,50280492,T,G&fts=all	T284P	--	--	1																																		NRXN1_uc002rxb.3_Missense_Mutation_p.T1021P|NRXN1_uc010fbq.2_Missense_Mutation_p.T1389P|NRXN1_uc002rxe.3_Missense_Mutation_p.T1319P	1,1,1,1,1			benign(0.144)	p.T284P	NM_138735	NP_620072		tolerated(0.08)	1,1,1,1,1	NRX1A_HUMAN	NRXN1	HGNC	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		Q08AH0_HUMAN		4	1657	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	UPI0000130A9D	284			Extracellular (Potential).		SNV	NRXN1,missense_variant,p.Thr1389Pro,ENST00000404971,NM_001135659.1;NRXN1,missense_variant,p.Thr1319Pro,ENST00000406316,NM_004801.4;NRXN1,missense_variant,p.Thr1349Pro,ENST00000401669,;NRXN1,missense_variant,p.Thr1341Pro,ENST00000405472,;NRXN1,missense_variant,p.Thr284Pro,ENST00000342183,NM_138735.2;NRXN1,missense_variant,p.Thr1341Pro,ENST00000402717,;NRXN1,missense_variant,p.Thr1319Pro,ENST00000406859,;NRXN1,missense_variant,p.Thr337Pro,ENST00000401710,;	uc010fbp.2	c.850A>C	5432/7505	3	3			c.850A>C						2	SNP	c.(850-852)ACA>CCA	56	56			ovary(2)	2	Broad	neurexin 1 isoform beta precursor			50280492		0.502	ENSG00000179915	10476	g.chr2:50280492T>G	angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding							212.173802	KEEP	47	41	-1	66	64	47	41	-1	214.778396	66	64	0.368421	1	0	0	0	0	1	0	0	0	--	--		0	G			NRXN1_uc002rxb.3_Missense_Mutation_p.T1021P|NRXN1_uc010fbq.2_Missense_Mutation_p.T1389P|NRXN1_uc002rxe.3_Missense_Mutation_p.T1319P	237	GBM-32-2495-TP	p.T284P	T	ATAATTGATGTGGACATCTCT	NM_138735	NP_620072	50280492	P58400	NRX1B_HUMAN	0	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		4	1657	-	G	G		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Missense_Mutation	284			Extracellular (Potential).			
NRXN1	0	broad.mit.edu	GRCh37	2	50573861	50573861	+	intron_variant	Intron	SNP	T	T	C			TCGA-76-4928-01	TCGA-76-4928-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000406316.2:c.3365-109753A>G		*1122*	ENST00000406316	NM_004801.4			0			1			C		uc010fbp.2	protein_coding		CCDS54360.1			-/4434									ovary(2)	2	c.(226-228)TAC>TGC				neurexin 1 isoform beta precursor				ENSP00000384311											COSM3407894		.		ENST00000406316	Transcript	1		angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	ENSG00000179915	g.chr2:50573861T>C	8008			MODIFIER	17/21	0.975	low	getma.org/?cm=msa&ty=f&p=NRX1B_HUMAN&rb=1&re=120&var=Y76C	NA	getma.org/?cm=var&var=hg19,2,50573861,T,C&fts=all	Y76C	--	--	1																																		NRXN1_uc002rxb.3_Intron|NRXN1_uc010fbq.2_Intron|NRXN1_uc002rxe.3_Intron|NRXN1_uc002rxc.1_Intron	1				p.Y76C	NM_138735	NP_620072			1	NRX1A_HUMAN	NRXN1	HGNC	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		Q08AH0_HUMAN		1	1034	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	UPI0000130A9D	76			Extracellular (Potential).		SNV	NRXN1,missense_variant,p.Tyr76Cys,ENST00000342183,NM_138735.2;NRXN1,intron_variant,,ENST00000404971,NM_001135659.1;NRXN1,intron_variant,,ENST00000406316,NM_004801.4;NRXN1,intron_variant,,ENST00000401669,;NRXN1,intron_variant,,ENST00000405472,;NRXN1,intron_variant,,ENST00000402717,;NRXN1,intron_variant,,ENST00000406859,;NRXN1,intron_variant,,ENST00000401710,;NRXN1,intron_variant,,ENST00000331040,;	uc010fbp.2	c.227A>G	-/7505	3	3			c.227A>G						2	SNP	c.(226-228)TAC>TGC	58	58			ovary(2)	2	Broad	neurexin 1 isoform beta precursor			50573861		0.602	ENSG00000179915	10476	g.chr2:50573861T>C	angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding							16.294325	KEEP	10	7	-1	75	60	10	7	-1	34.78509	75	60	0.107438	1	0	0	0	0	1	0	0	0	--	--		0	C			NRXN1_uc002rxb.3_Intron|NRXN1_uc010fbq.2_Intron|NRXN1_uc002rxe.3_Intron|NRXN1_uc002rxc.1_Intron	268	GBM-76-4928-TP	p.Y76C	T	CGGTGACCTGTAGATTGCAAT	NM_138735	NP_620072	50573861	P58400	NRX1B_HUMAN	0	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		1	1034	-	C	C		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Missense_Mutation	76			Extracellular (Potential).			
NRXN3	0	broad.mit.edu	GRCh37	14	80130234	80130234	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000557594.1:c.543C>T	p.Asn181=	p.N181=	ENST00000557594		181	aaC/aaT	0			1			T	N	uc001xun.2	protein_coding		CCDS61515.1			543/1914									ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10	c.(2437-2439)AAC>AAT			Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF405,SMART_domains:SM00282,Superfamily_domains:SSF49899	neurexin 3 isoform 1 precursor				ENSP00000451672		6-Mar	1.65E-05					1.50E-05		6.06E-05	rs755216631,COSM2157370,COSM2157371	6-Mar	.		ENST00000557594	Transcript			axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	ENSG00000021645	g.chr14:80130234C>T	8010			LOW								--	--	1																																		NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Silent_p.N181N|NRXN3_uc010asw.2_Silent_p.N181N|NRXN3_uc001xur.3_Silent_p.N181N	0,1,1				p.N813N	NM_004796	NP_004787			0,1,1	NRX3B_HUMAN	NRXN3	HGNC	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	B3KTX7_HUMAN		14	2930	+		Renal(4;0.00876)	UPI000013DC5A	1186			Extracellular (Potential).|Laminin G-like 6.		SNV	NRXN3,synonymous_variant,p.=,ENST00000281127,NM_138970.4,NM_001272020.1;NRXN3,synonymous_variant,p.=,ENST00000428277,NM_001105250.2;NRXN3,synonymous_variant,p.=,ENST00000554719,NM_004796.5;NRXN3,synonymous_variant,p.=,ENST00000335750,;NRXN3,synonymous_variant,p.=,ENST00000557594,;RP11-242P2.1,intron_variant,,ENST00000553322,;NRXN3,non_coding_transcript_exon_variant,,ENST00000556003,;NRXN3,non_coding_transcript_exon_variant,,ENST00000555073,;NRXN3,synonymous_variant,p.=,ENST00000554738,;NRXN3,synonymous_variant,p.=,ENST00000555387,;	uc001xun.2	c.2439C>T	1496/3381	2	2			c.2439C>T						14	SNP	c.(2437-2439)AAC>AAT	41	41			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10	Broad	neurexin 3 isoform 1 precursor			80130234		0.488	ENSG00000021645	10478	g.chr14:80130234C>T	axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity							50.098898	KEEP	6	19	-1	42	36	6	19	-1	53.231946	42	36	0.275362	1	0	0	0	0	0	0	1	0	--	--		0	T			NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Silent_p.N181N|NRXN3_uc010asw.2_Silent_p.N181N|NRXN3_uc001xur.3_Silent_p.N181N	246	GBM-32-4211-TP	p.N813N	C	TCACCAGGAACGGCGGCAACG	NM_004796	NP_004787	80130234	Q9Y4C0	NRX3A_HUMAN	0		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	14	2930	+	T	T		Renal(4;0.00876)	Silent	1186			Extracellular (Potential).|Laminin G-like 6.			
NRXN3	9369		GRCh37	14	79432392	79432392	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000554719.1:c.1301G>A	p.Arg434His	p.R434H	ENST00000554719	NM_004796.5	434	cGt/cAt	0																																																																																																																																																																																																																																												
NSD1	64324	broad.mit.edu	GRCh37	5	176638305	176638305	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01	TCGA-06-2563-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000439151.2:c.2905G>A	p.Gly969Arg	p.G969R	ENST00000439151	NM_022455.4	969	Gga/Aga	0			1			A	G/R	uc003mfr.3	protein_coding	YES	CCDS4412.1			2905/8091	T	Sotos Syndrome	NUP98		AML				ovary(2)|kidney(1)	3	c.(2905-2907)GGA>AGA			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF312	nuclear receptor binding SET domain protein 1				ENSP00000395929		23-May									COSM2152856,COSM2152855	23-May	.	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	ENST00000439151	Transcript	1		negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	ENSG00000165671	g.chr5:176638305G>A	14234			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=NSD1_HUMAN&rb=395&re=1258&var=G969R	NA	getma.org/?cm=var&var=hg19,5,176638305,G,A&fts=all	G969R	--	--	1				HNSCC(47;0.14)																														NSD1_uc003mft.3_Missense_Mutation_p.G700R|NSD1_uc003mfs.1_Missense_Mutation_p.G866R|NSD1_uc011dfx.1_Missense_Mutation_p.G617R	1,1	1		benign(0.007)	p.G969R	NM_022455	NP_071900		deleterious_low_confidence(0.04)	1,1	NSD1_HUMAN	NSD1	HGNC	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	Q9H6H8_HUMAN,Q9H6B5_HUMAN,Q96MN8_HUMAN,Q96DQ7_HUMAN,Q658U6_HUMAN,D6RE14_HUMAN,D6RBP3_HUMAN,D6RA90_HUMAN		5	3043	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	UPI000006F9C6	969					SNV	NSD1,missense_variant,p.Gly969Arg,ENST00000439151,NM_022455.4;NSD1,missense_variant,p.Gly866Arg,ENST00000361032,;NSD1,missense_variant,p.Gly700Arg,ENST00000354179,NM_172349.2;NSD1,missense_variant,p.Gly700Arg,ENST00000347982,;NSD1,downstream_gene_variant,,ENST00000508896,;NSD1,upstream_gene_variant,,ENST00000375350,;	uc003mfr.3	c.2905G>A	2950/12892	2	2			c.2905G>A	T	Sotos Syndrome	NUP98		AML	5	SNP	c.(2905-2907)GGA>AGA	17	17			ovary(2)|kidney(1)	3	Broad	nuclear receptor binding SET domain protein 1			176638305	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	0.512	ENSG00000165671	10480	g.chr5:176638305G>A	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			492			492	126.364392	KEEP	28	16	-1	26	28	28	16	-1	126.600689	26	28	0.445652	1	0	0	0	0	1	0	0	0	--	--	HNSCC(47;0.14)	0	A			NSD1_uc003mft.3_Missense_Mutation_p.G700R|NSD1_uc003mfs.1_Missense_Mutation_p.G866R|NSD1_uc011dfx.1_Missense_Mutation_p.G617R	86	GBM-06-2563-TP	p.G969R	G	AGAGAAAAAGGGAGATGGCAC	NM_022455	NP_071900	176638305	Q96L73	NSD1_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	3043	+	A	A	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Missense_Mutation	969						
NSG1	0	broad.mit.edu	GRCh37	4	4411320	4411320	+	synonymous_variant	Silent	SNP	C	C	T	rs143847165		TCGA-19-5951-01	TCGA-19-5951-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000433139.2:c.267C>T	p.Phe89=	p.F89=	ENST00000433139		89	ttC/ttT	0	T:0		1			T	F	uc011bvz.1	protein_coding		CCDS3376.1			267/558									ovary(1)	1	c.(265-267)TTC>TTT			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Pfam_domain:PF06387,PIRSF_domain:PIRSF002383	brain neuron cytoplasmic protein 1			T:0.0001	ENSP00000408833		5-Apr	7.41E-05		8.64E-05	0.000809		1.50E-05			rs143847165,COSM2156610	5-Apr	common_variant		ENST00000433139	Transcript			dopamine receptor signaling pathway	Golgi membrane|integral to membrane|nucleus	dopamine receptor binding	ENSG00000168824	g.chr4:4411320C>T				LOW								--	--	1																																		D4S234E_uc011bwa.1_Silent_p.F50F|D4S234E_uc003ghz.2_Silent_p.F89F|D4S234E_uc003gia.2_Silent_p.F89F|D4S234E_uc003gib.2_Silent_p.F89F	0,1				p.F89F	NM_014392	NP_055207			0,1	NSG1_HUMAN	NSG1	Uniprot_gn	P42857	NSG1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.166)	D3DVS7_HUMAN,B2R5R8_HUMAN		7	1548	+			UPI0000130549	89			Helical; Signal-anchor for type II membrane protein; (Potential).		SNV	NSG1,synonymous_variant,p.=,ENST00000421177,;NSG1,synonymous_variant,p.=,ENST00000513555,NM_001287763.1;NSG1,synonymous_variant,p.=,ENST00000397958,NM_001040101.1,NM_014392.3;NSG1,synonymous_variant,p.=,ENST00000433139,;NSG1,synonymous_variant,p.=,ENST00000504171,;NSG1,synonymous_variant,p.=,ENST00000505246,;NSG1,synonymous_variant,p.=,ENST00000506380,;NSG1,synonymous_variant,p.=,ENST00000513829,;	uc011bvz.1	c.267C>T	399/2254	1	1			c.267C>T						4	SNP	c.(265-267)TTC>TTT	1	1			ovary(1)	1	Broad	brain neuron cytoplasmic protein 1			4411320		0.617	ENSG00000168824	4140	g.chr4:4411320C>T	dopamine receptor signaling pathway	Golgi membrane|integral to membrane|nucleus	dopamine receptor binding							104.670856	KEEP	16	22	-1	19	23	16	22	-1	104.816344	19	23	0.452055	1	0	0	0	0	0	0	1	0	--	--		0	T			D4S234E_uc011bwa.1_Silent_p.F50F|D4S234E_uc003ghz.2_Silent_p.F89F|D4S234E_uc003gia.2_Silent_p.F89F|D4S234E_uc003gib.2_Silent_p.F89F	171	GBM-19-5951-TP	p.F89F	C	TGGTCCTCTTCGCCCTGGCCT	NM_014392	NP_055207	4411320	P42857	NSG1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (64;0.166)	7	1548	+	T	T			Silent	89			Helical; Signal-anchor for type II membrane protein; (Potential).			
NSMAF	8439	broad.mit.edu	GRCh37	8	59548070	59548070	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs35436008		TCGA-06-0939-01	TCGA-06-0939-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000427130.2:c.278C>T	p.Ser93Leu	p.S93L	ENST00000427130	NM_001144772.1	93	tCg/tTg	0			1			A	S/L	uc003xtt.2	protein_coding		CCDS6173.1			185/2754									ovary(1)	1	c.(184-186)TCG>TTG			hmmpanther:PTHR13743	neutral sphingomyelinase (N-SMase) activation				ENSP00000038176		31-Mar	8.24E-06					1.50E-05			rs35436008,COSM2152433,COSM2152432	31-Mar	.		ENST00000038176	Transcript			ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	ENSG00000035681	g.chr8:59548070G>A	8017			MODERATE		2.72	medium	getma.org/?cm=msa&ty=f&p=FAN_HUMAN&rb=39&re=175&var=S62L	NA	getma.org/?cm=var&var=hg19,8,59548070,G,A&fts=all	S62L	--	--	1																																		NSMAF_uc011lee.1_Missense_Mutation_p.S93L|NSMAF_uc003xtu.2_Missense_Mutation_p.S62L	0,1,1			probably_damaging(0.999)	p.S62L	NM_003580	NP_003571		deleterious(0)	0,1,1	FAN_HUMAN	NSMAF	HGNC	Q92636	FAN_HUMAN					3	399	-		all_lung(136;0.174)|Lung NSC(129;0.2)	UPI0000074572	62					SNV	NSMAF,missense_variant,p.Ser62Leu,ENST00000038176,NM_003580.3;NSMAF,missense_variant,p.Ser93Leu,ENST00000427130,NM_001144772.1;NSMAF,3_prime_UTR_variant,,ENST00000518159,;NSMAF,3_prime_UTR_variant,,ENST00000518229,;NSMAF,non_coding_transcript_exon_variant,,ENST00000522645,;NSMAF,non_coding_transcript_exon_variant,,ENST00000519871,;	uc003xtt.2	c.185C>T	398/3569	2	2			c.185C>T						8	SNP	c.(184-186)TCG>TTG	36	36			ovary(1)	1	Broad	neutral sphingomyelinase (N-SMase) activation			59548070		0.323	ENSG00000035681	10485	g.chr8:59548070G>A	ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity							166.520519	KEEP	31	38	-1	83	86	31	38	-1	173.523803	83	86	0.301508	1	0	0	0	0	1	0	0	0	--	--		0	A			NSMAF_uc011lee.1_Missense_Mutation_p.S93L|NSMAF_uc003xtu.2_Missense_Mutation_p.S62L	78	GBM-06-0939-TP	p.S62L	G	AAAAATCACCGATTTTGAACA	NM_003580	NP_003571	59548070	Q92636	FAN_HUMAN	0			3	399	-	A	A		all_lung(136;0.174)|Lung NSC(129;0.2)	Missense_Mutation	62						
NSMAF	0	broad.mit.edu	GRCh37	8	59512581	59512581	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T			TCGA-28-2513-01	TCGA-28-2513-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000038176.3:c.1281-1G>A		p.X427_splice	ENST00000038176	NM_003580.3			0			1			T		uc003xtt.2	protein_coding		CCDS6173.1			1281/2754									ovary(1)	1	c.e17-1				neutral sphingomyelinase (N-SMase) activation				ENSP00000038176											COSM3413080,COSM3413079		.		ENST00000038176	Transcript			ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	ENSG00000035681	g.chr8:59512581C>T	8017			HIGH	16/30							--	--	1																																		NSMAF_uc011lee.1_Splice_Site_p.S458_splice	1,1				p.S427_splice	NM_003580	NP_003571			1,1	FAN_HUMAN	NSMAF	HGNC	Q92636	FAN_HUMAN					17	1495	-		all_lung(136;0.174)|Lung NSC(129;0.2)	UPI0000074572						SNV	NSMAF,splice_acceptor_variant,,ENST00000038176,NM_003580.3;NSMAF,splice_acceptor_variant,,ENST00000427130,NM_001144772.1;NSMAF,splice_acceptor_variant,,ENST00000523982,;NSMAF,downstream_gene_variant,,ENST00000519858,;NSMAF,upstream_gene_variant,,ENST00000523177,;NSMAF,non_coding_transcript_exon_variant,,ENST00000519227,;NSMAF,upstream_gene_variant,,ENST00000523106,;	uc003xtt.2	c.1281_splice	-/3569	5	2			c.1281_splice						8	SNP	c.e17-1	17	17			ovary(1)	1	Broad	neutral sphingomyelinase (N-SMase) activation			59512581		0.269	ENSG00000035681	10485	g.chr8:59512581C>T	ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity							32.435677	KEEP	8	12	-1	67	64	8	12	-1	50.191094	67	64	0.136691	1	0	0	0	0	0	0	0	1	--	--		0	T			NSMAF_uc011lee.1_Splice_Site_p.S458_splice	213	GBM-28-2513-TP	p.S427_splice	C	TTCTGCAATACTACATATGAA	NM_003580	NP_003571	59512581	Q92636	FAN_HUMAN	0			17	1495	-	T	T		all_lung(136;0.174)|Lung NSC(129;0.2)	Splice_Site							
NSUN2	54888	broad.mit.edu	GRCh37	5	6600309	6600309	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5856-01	TCGA-06-5856-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264670.6:c.2034C>T	p.Cys678=	p.C678=	ENST00000264670	NM_017755.5	678	tgC/tgT	0			1			A	C	uc003jdu.2	protein_coding	YES	CCDS3869.1			2034/2304									ovary(1)	1	c.(2032-2034)TGC>TGT			hmmpanther:PTHR22808,hmmpanther:PTHR22808:SF1	NOL1/NOP2/Sun domain family, member 2				ENSP00000264670		19/19	2.47E-05					3.00E-05		6.10E-05	rs770100002,COSM3410344	19/19	.		ENST00000264670	Transcript	1			cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	ENSG00000037474	g.chr5:6600309G>A	25994			LOW								--	--	1																																		NSUN2_uc003jds.2_Silent_p.C124C|NSUN2_uc003jdt.2_Silent_p.C442C|NSUN2_uc011cmk.1_Silent_p.C643C|NSUN2_uc003jdv.2_Silent_p.C442C	0,1	1			p.C678C	NM_017755	NP_060225			0,1	NSUN2_HUMAN	NSUN2	HGNC	Q08J23	NSUN2_HUMAN			G3V1R4_HUMAN		19	2099	-			UPI000020BF2B	678					SNV	NSUN2,synonymous_variant,p.=,ENST00000264670,NM_017755.5;NSUN2,synonymous_variant,p.=,ENST00000539938,;NSUN2,synonymous_variant,p.=,ENST00000506139,NM_001193455.1;NSUN2,3_prime_UTR_variant,,ENST00000504374,;NSUN2,3_prime_UTR_variant,,ENST00000514127,;NSUN2,non_coding_transcript_exon_variant,,ENST00000505892,;NSUN2,non_coding_transcript_exon_variant,,ENST00000513888,;NSUN2,downstream_gene_variant,,ENST00000507888,;NSUN2,downstream_gene_variant,,ENST00000502932,;	uc003jdu.2	c.2034C>T	2346/3303	2	2			c.2034C>T						5	SNP	c.(2032-2034)TGC>TGT	41	41			ovary(1)	1	Broad	NOL1/NOP2/Sun domain family, member 2			6600309		0.458	ENSG00000037474	10489	g.chr5:6600309G>A		cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding							-2.9273	KEEP	1	3	-1	21	37	1	3	-1	6.876492	21	37	0.075472	1	0	0	0	0	0	0	1	0	--	--		0	A			NSUN2_uc003jds.2_Silent_p.C124C|NSUN2_uc003jdt.2_Silent_p.C442C|NSUN2_uc011cmk.1_Silent_p.C643C|NSUN2_uc003jdv.2_Silent_p.C442C	101	GBM-06-5856-TP	p.C678C	G	CCCGCCATCCGCATAAGACGA	NM_017755	NP_060225	6600309	Q08J23	NSUN2_HUMAN	0			19	2099	-	A	A			Silent	678						
NSUN3	63899		GRCh37	3	93813043	93813043	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000314622.4:c.526G>C	p.Glu176Gln	p.E176Q	ENST00000314622	NM_022072.3	176	Gaa/Caa	0																																																																																																																																																																																																																																												
NSUN4	0	broad.mit.edu	GRCh37	1	46810560	46810560	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01	TCGA-12-3650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000474844.1:c.181C>T	p.Pro61Ser	p.P61S	ENST00000474844	NM_199044.3	61	Cca/Tca	0			1			T	P/S	uc001cpr.1	protein_coding	YES	CCDS534.1			181/1155										0	c.(181-183)CCA>TCA			hmmpanther:PTHR22808,hmmpanther:PTHR22808:SF3	NOL1/NOP2/Sun domain family 4 protein				ENSP00000419740		6-Feb									COSM3400844	6-Feb	.		ENST00000474844	Transcript					methyltransferase activity	ENSG00000117481	g.chr1:46810560C>T	31802			MODERATE		1.335	low	getma.org/?cm=msa&ty=f&p=NSUN4_HUMAN&rb=1&re=100&var=P61S	NA	getma.org/?cm=var&var=hg19,1,46810560,C,T&fts=all	P61S	--	--	1																																		NSUN4_uc010omc.1_Missense_Mutation_p.P12S|NSUN4_uc009vyf.1_5'UTR|NSUN4_uc009vyg.1_Missense_Mutation_p.P12S|NSUN4_uc001cpt.1_RNA|NSUN4_uc001cps.1_RNA	1	1		benign(0.165)	p.P61S	NM_199044	NP_950245		tolerated(0.08)	1	NSUN4_HUMAN	NSUN4	HGNC	Q96CB9	NSUN4_HUMAN					2	290	+	Acute lymphoblastic leukemia(166;0.155)		UPI000013EBC5	61					SNV	NSUN4,missense_variant,p.Pro61Ser,ENST00000474844,NM_199044.3;NSUN4,missense_variant,p.Pro12Ser,ENST00000537428,NM_001256128.1;NSUN4,missense_variant,p.Pro12Ser,ENST00000536062,;NSUN4,non_coding_transcript_exon_variant,,ENST00000498008,;NSUN4,non_coding_transcript_exon_variant,,ENST00000495427,;NSUN4,non_coding_transcript_exon_variant,,ENST00000471871,;NSUN4,non_coding_transcript_exon_variant,,ENST00000486270,;NSUN4,non_coding_transcript_exon_variant,,ENST00000469918,;NSUN4,non_coding_transcript_exon_variant,,ENST00000475281,;NSUN4,downstream_gene_variant,,ENST00000472157,;NSUN4,missense_variant,p.Pro61Ser,ENST00000307089,;	uc001cpr.1	c.181C>T	831/2150	2	2			c.181C>T						1	SNP	c.(181-183)CCA>TCA	26	26				0	Broad	NOL1/NOP2/Sun domain family 4 protein			46810560		0.488	ENSG00000117481	10491	g.chr1:46810560C>T			methyltransferase activity							-36.610128	KEEP	2	2	-1	96	93	2	2	-1	7.159416	96	93	0.023121	1	0	0	0	0	1	0	0	0	--	--		0	T			NSUN4_uc010omc.1_Missense_Mutation_p.P12S|NSUN4_uc009vyf.1_5'UTR|NSUN4_uc009vyg.1_Missense_Mutation_p.P12S|NSUN4_uc001cpt.1_RNA|NSUN4_uc001cps.1_RNA	126	GBM-12-3650-TP	p.P61S	C	AGATCTTTGGCCATCAATCCG	NM_199044	NP_950245	46810560	Q96CB9	NSUN4_HUMAN	0			2	290	+	T	T	Acute lymphoblastic leukemia(166;0.155)		Missense_Mutation	61						
NSUN5	55695	broad.mit.edu	GRCh37	7	72721634	72721634	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01	TCGA-06-0744-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310326.8:c.337C>T	p.Arg113Trp	p.R113W	ENST00000310326		113	Cgg/Tgg	0			1			A	R/W	uc003txw.2	protein_coding		CCDS5547.1			337/1290										0	c.(337-339)CGG>TGG			hmmpanther:PTHR22807,hmmpanther:PTHR22807:SF4	NOL1/NOP2/Sun domain family, member 5 isoform 2				ENSP00000252594		9-Mar	4.12E-05			0.000582					rs781934018,COSM2151664,COSM2151663	9-Mar	common_variant		ENST00000252594	Transcript					methyltransferase activity	ENSG00000130305	g.chr7:72721634G>A	16385			MODERATE		2.81	medium	getma.org/?cm=msa&ty=f&p=NSUN5_HUMAN&rb=1&re=163&var=R113W	NA	getma.org/?cm=var&var=hg19,7,72721634,G,A&fts=all	R113W	--	--	1																																		FKBP6_uc003twz.2_Intron|NSUN5_uc003txv.2_Missense_Mutation_p.R113W|NSUN5_uc003txx.2_Missense_Mutation_p.R75W|NSUN5_uc011kev.1_Missense_Mutation_p.R113W	0,1,1			possibly_damaging(0.696)	p.R113W	NM_018044	NP_060514		deleterious(0)	0,1,1	NSUN5_HUMAN	NSUN5	HGNC	Q96P11	NSUN5_HUMAN					3	373	-		Lung NSC(55;0.163)	UPI0000071AE4	113					SNV	NSUN5,missense_variant,p.Arg75Trp,ENST00000428206,NM_001168348.2;NSUN5,missense_variant,p.Arg113Trp,ENST00000252594,;NSUN5,missense_variant,p.Arg113Trp,ENST00000438747,NM_001168347.2,NM_148956.3,NM_018044.4;NSUN5,missense_variant,p.Arg113Trp,ENST00000310326,;TRIM50,downstream_gene_variant,,ENST00000333149,NM_001281450.1,NM_178125.3;NSUN5,non_coding_transcript_exon_variant,,ENST00000471461,;NSUN5,intron_variant,,ENST00000455763,;NSUN5,upstream_gene_variant,,ENST00000478977,;	uc003txw.2	c.337C>T	353/1672	1	1			c.337C>T						7	SNP	c.(337-339)CGG>TGG	59	59				0	Broad	NOL1/NOP2/Sun domain family, member 5 isoform 2			72721634		0.637	ENSG00000130305	10492	g.chr7:72721634G>A			methyltransferase activity							45.116724	KEEP	3	15	-1	25	33	3	15	-1	49.561188	25	33	0.243243	1	0	0	0	0	1	0	0	0	--	--		0	A			FKBP6_uc003twz.2_Intron|NSUN5_uc003txv.2_Missense_Mutation_p.R113W|NSUN5_uc003txx.2_Missense_Mutation_p.R75W|NSUN5_uc011kev.1_Missense_Mutation_p.R113W	66	GBM-06-0744-TP	p.R113W	G	CTCACACCCCGATGAACCTTG	NM_018044	NP_060514	72721634	Q96P11	NSUN5_HUMAN	0			3	373	-	A	A		Lung NSC(55;0.163)	Missense_Mutation	113						
NSUN5	0	broad.mit.edu	GRCh37	7	72721702	72721702	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0618-01	TCGA-12-0618-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252594.6:c.269G>A	p.Arg90Gln	p.R90Q	ENST00000252594		90	cGa/cAa	0	T:0.0002		1			T	R/Q	uc003txw.2	protein_coding		CCDS5547.1			269/1290										0	c.(268-270)CGA>CAA			hmmpanther:PTHR22807,hmmpanther:PTHR22807:SF4,Low_complexity_(Seg):seg	NOL1/NOP2/Sun domain family, member 5 isoform 2			T:0.0006	ENSP00000252594		9-Mar	0.000182	0.000519				0.000477			rs373433551,COSM3412265,COSM3412264	9-Mar	common_variant		ENST00000252594	Transcript					methyltransferase activity	ENSG00000130305	g.chr7:72721702C>T	16385			MODERATE		1.575	low	getma.org/?cm=msa&ty=f&p=NSUN5_HUMAN&rb=1&re=163&var=R90Q	NA	getma.org/?cm=var&var=hg19,7,72721702,C,T&fts=all	R90Q	--	--	1																																		FKBP6_uc003twz.2_Intron|NSUN5_uc003txv.2_Missense_Mutation_p.R90Q|NSUN5_uc003txx.2_Intron|NSUN5_uc011kev.1_Missense_Mutation_p.R90Q	0,1,1			benign(0.03)	p.R90Q	NM_018044	NP_060514		tolerated(0.17)	0,1,1	NSUN5_HUMAN	NSUN5	HGNC	Q96P11	NSUN5_HUMAN					3	305	-		Lung NSC(55;0.163)	UPI0000071AE4	90					SNV	NSUN5,missense_variant,p.Arg90Gln,ENST00000252594,;NSUN5,missense_variant,p.Arg90Gln,ENST00000438747,NM_001168347.2,NM_148956.3,NM_018044.4;NSUN5,missense_variant,p.Arg90Gln,ENST00000310326,;NSUN5,intron_variant,,ENST00000428206,NM_001168348.2;TRIM50,downstream_gene_variant,,ENST00000333149,NM_001281450.1,NM_178125.3;NSUN5,non_coding_transcript_exon_variant,,ENST00000471461,;NSUN5,intron_variant,,ENST00000455763,;NSUN5,upstream_gene_variant,,ENST00000478977,;	uc003txw.2	c.269G>A	285/1672	2	2			c.269G>A						7	SNP	c.(268-270)CGA>CAA	47	47				0	Broad	NOL1/NOP2/Sun domain family, member 5 isoform 2			72721702		0.552	ENSG00000130305	10492	g.chr7:72721702C>T			methyltransferase activity							-0.795847	KEEP	1	3	-1	21	21	1	3	-1	6.873402	21	21	0.073171	1	0	0	0	0	1	0	0	0	--	--		0	T			FKBP6_uc003twz.2_Intron|NSUN5_uc003txv.2_Missense_Mutation_p.R90Q|NSUN5_uc003txx.2_Intron|NSUN5_uc011kev.1_Missense_Mutation_p.R90Q	119	GBM-12-0618-TP	p.R90Q	C	AGCCTTCCATCGGCCCCCACC	NM_018044	NP_060514	72721702	Q96P11	NSUN5_HUMAN	0			3	305	-	T	T		Lung NSC(55;0.163)	Missense_Mutation	90						
NSUN5	0	broad.mit.edu	GRCh37	7	72722785	72722785	+	start_lost	Translation_Start_Site	SNP	C	C	T			TCGA-76-4926-01	TCGA-76-4926-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252594.6:c.3G>A	p.Met1?	p.M1?	ENST00000252594		1	atG/atA	0			1			T	M/I	uc003txw.2	protein_coding		CCDS5547.1			3/1290										0	c.(1-3)ATG>ATA			hmmpanther:PTHR22807,hmmpanther:PTHR22807:SF4	NOL1/NOP2/Sun domain family, member 5 isoform 2				ENSP00000252594		9-Jan									COSM3412267,COSM3412266	9-Jan	.		ENST00000252594	Transcript					methyltransferase activity	ENSG00000130305	g.chr7:72722785C>T	16385			HIGH		0	NA	http://getma.org/?cm=msa&ty=f&p=NSUN5_HUMAN&rb=1&re=163&var=M1I	NA	getma.org/?cm=var&var=hg19,7,72722785,C,T&fts=all	M1I	--	--	1																																		FKBP6_uc003twz.2_Intron|NSUN5_uc003txv.2_Missense_Mutation_p.M1I|NSUN5_uc003txx.2_Missense_Mutation_p.M1I|NSUN5_uc011kev.1_Missense_Mutation_p.M1I	1,1			unknown(0)	p.M1I	NM_018044	NP_060514		deleterious(0)	1,1	NSUN5_HUMAN	NSUN5	HGNC	Q96P11	NSUN5_HUMAN					1	39	-		Lung NSC(55;0.163)	UPI0000071AE4	1					SNV	NSUN5,start_lost,p.Met1?,ENST00000428206,NM_001168348.2;NSUN5,start_lost,p.Met1?,ENST00000252594,;NSUN5,start_lost,p.Met1?,ENST00000438747,NM_001168347.2,NM_148956.3,NM_018044.4;NSUN5,start_lost,p.Met1?,ENST00000310326,;TRIM50,downstream_gene_variant,,ENST00000333149,NM_001281450.1,NM_178125.3;TRIM50,downstream_gene_variant,,ENST00000453152,NM_001281451.1;NSUN5,non_coding_transcript_exon_variant,,ENST00000471461,;NSUN5,upstream_gene_variant,,ENST00000478977,;TRIM50,downstream_gene_variant,,ENST00000488217,;NSUN5,upstream_gene_variant,,ENST00000455763,;	uc003txw.2	c.3G>A	19/1672	1	1			c.3G>A						7	SNP	c.(1-3)ATG>ATA	9	9				0	Broad	NOL1/NOP2/Sun domain family, member 5 isoform 2			72722785		0.657	ENSG00000130305	10492	g.chr7:72722785C>T			methyltransferase activity							74.814884	KEEP	20	15	-1	42	51	20	15	-1	78.327755	42	51	0.308411	1	0	0	0	0	1	0	0	0	--	--		0	T			FKBP6_uc003twz.2_Intron|NSUN5_uc003txv.2_Missense_Mutation_p.M1I|NSUN5_uc003txx.2_Missense_Mutation_p.M1I|NSUN5_uc011kev.1_Missense_Mutation_p.M1I	266	GBM-76-4926-TP	p.M1I	C	CATACAGCCCCATGTTCCCGC	NM_018044	NP_060514	72722785	Q96P11	NSUN5_HUMAN	0			1	39	-	T	T		Lung NSC(55;0.163)	Missense_Mutation	1						
NSUN5	0	broad.mit.edu	GRCh37	7	72717906	72717906	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-87-5896-01	TCGA-87-5896-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252594.6:c.1062C>T	p.Leu354=	p.L354=	ENST00000252594		354	ctC/ctT	0			1			A	L	uc003txw.2	protein_coding		CCDS5547.1			1062/1290										0	c.(1060-1062)CTC>CTT			Gene3D:3.40.50.150,Pfam_domain:PF01189,Prints_domain:PR02008,PROSITE_profiles:PS51686,hmmpanther:PTHR22807,hmmpanther:PTHR22807:SF4,Superfamily_domains:SSF53335	NOL1/NOP2/Sun domain family, member 5 isoform 2				ENSP00000252594		9-Aug	3.29E-05					6.12E-05			rs781884357,COSM3412263,COSM3412262	9-Aug	.		ENST00000252594	Transcript					methyltransferase activity	ENSG00000130305	g.chr7:72717906G>A	16385			LOW								--	--	1																																		FKBP6_uc003twz.2_Intron|NSUN5_uc003txv.2_Silent_p.L354L|NSUN5_uc003txx.2_Silent_p.L316L|NSUN5_uc011kev.1_Silent_p.L354L	0,1,1				p.L354L	NM_018044	NP_060514			0,1,1	NSUN5_HUMAN	NSUN5	HGNC	Q96P11	NSUN5_HUMAN					8	1098	-		Lung NSC(55;0.163)	UPI0000071AE4	354					SNV	NSUN5,synonymous_variant,p.=,ENST00000428206,NM_001168348.2;NSUN5,synonymous_variant,p.=,ENST00000252594,;NSUN5,synonymous_variant,p.=,ENST00000438747,NM_001168347.2,NM_148956.3,NM_018044.4;NSUN5,synonymous_variant,p.=,ENST00000310326,;NSUN5,non_coding_transcript_exon_variant,,ENST00000471461,;NSUN5,downstream_gene_variant,,ENST00000478977,;NSUN5,downstream_gene_variant,,ENST00000455763,;POM121B,downstream_gene_variant,,ENST00000411631,;POM121B,downstream_gene_variant,,ENST00000380760,;	uc003txw.2	c.1062C>T	1078/1672	1	1			c.1062C>T						7	SNP	c.(1060-1062)CTC>CTT	51	51				0	Broad	NOL1/NOP2/Sun domain family, member 5 isoform 2			72717906		0.677	ENSG00000130305	10492	g.chr7:72717906G>A			methyltransferase activity							49.072673	KEEP	12	7	-1	11	17	12	7	-1	49.331975	11	17	0.414634	1	0	0	0	0	0	0	1	0	--	--		0	A			FKBP6_uc003twz.2_Intron|NSUN5_uc003txv.2_Silent_p.L354L|NSUN5_uc003txx.2_Silent_p.L316L|NSUN5_uc011kev.1_Silent_p.L354L	291	GBM-87-5896-TP	p.L354L	G	TGGAGTAGACGAGCCGCTGCA	NM_018044	NP_060514	72717906	Q96P11	NSUN5_HUMAN	0			8	1098	-	A	A		Lung NSC(55;0.163)	Silent	354						
NT5C1A	84618	broad.mit.edu	GRCh37	1	40131873	40131873	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6388-01	TCGA-06-6388-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000235628.1:c.171C>T	p.Ser57=	p.S57=	ENST00000235628	NM_032526.1	57	tcC/tcT	0			1			A	S	uc001cdq.1	protein_coding	YES	CCDS440.1			171/1107									ovary(1)	1	c.(169-171)TCC>TCT			hmmpanther:PTHR31367,hmmpanther:PTHR31367:SF2	5'-nucleotidase, cytosolic IA				ENSP00000235628		6-Feb	1.65E-05					3.04E-05			rs775586267,COSM3400772	6-Feb	.		ENST00000235628	Transcript			purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	ENSG00000116981	g.chr1:40131873G>A	17819			LOW								--	--	1																																			0,1	1			p.S57S	NM_032526	NP_115915			0,1	5NT1A_HUMAN	NT5C1A	HGNC	Q9BXI3	5NT1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)				2	171	-	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	UPI000004978A	57					SNV	NT5C1A,synonymous_variant,p.=,ENST00000235628,NM_032526.1;	uc001cdq.1	c.171C>T	171/1107	1	1			c.171C>T						1	SNP	c.(169-171)TCC>TCT	52	52			ovary(1)	1	Broad	5'-nucleotidase, cytosolic IA			40131873		0.582	ENSG00000116981	10496	g.chr1:40131873G>A	purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding							75.547656	KEEP	13	16	-1	24	21	13	16	-1	76.059096	24	21	0.403226	1	0	0	0	0	0	0	1	0	--	--		0	A				104	GBM-06-6388-TP	p.S57S	G	AGGCTCGGGAGGACACAGCGA	NM_032526	NP_115915	40131873	Q9BXI3	5NT1A_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		2	171	-	A	A	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	Silent	57						
NT5C1B	93034	broad.mit.edu	GRCh37	2	18765378	18765378	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2564-01	TCGA-06-2564-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359846.2:c.1047G>A	p.Pro349=	p.P349=	ENST00000359846	NM_001199086.1	349	ccG/ccA	0			1			T	P	uc002rcz.2	protein_coding	YES	CCDS33150.1			1047/1833									skin(2)|ovary(1)	3	c.(1045-1047)CCG>CCA			Pfam_domain:PF06189,hmmpanther:PTHR31367,hmmpanther:PTHR31367:SF0	5' nucleotidase, cytosolic IB isoform 1				ENSP00000352904		10-Jun									COSM3407399	10-Jun	.		ENST00000359846	Transcript			purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	ENSG00000185013	g.chr2:18765378C>T	17818			LOW								--	--	1																																		NT5C1B_uc002rcy.2_Silent_p.P349P|NT5C1B_uc010exr.2_Silent_p.P291P|NT5C1B_uc010yju.1_Silent_p.P289P|NT5C1B_uc002rda.2_Silent_p.P289P|NT5C1B_uc010yjv.1_Silent_p.P366P|NT5C1B_uc010yjw.1_Silent_p.P332P|NT5C1B_uc010exs.2_Silent_p.P351P|NT5C1B_uc002rdb.1_Silent_p.P141P	1	1			p.P349P	NM_001002006	NP_001002006			1	5NT1B_HUMAN	NT5C1B	HGNC	Q96P26	5NT1B_HUMAN			B4DZ86_HUMAN		6	1151	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)	UPI000035B1B0	349					SNV	NT5C1B,synonymous_variant,p.=,ENST00000304081,NM_033253.3;NT5C1B,synonymous_variant,p.=,ENST00000359846,NM_001199086.1,NM_001002006.2,NM_001199088.1,NM_001199087.1;NT5C1B-RDH14,synonymous_variant,p.=,ENST00000532967,NM_001199104.1;NT5C1B,synonymous_variant,p.=,ENST00000600945,;NT5C1B-RDH14,synonymous_variant,p.=,ENST00000444297,NM_001199103.1;NT5C1B,upstream_gene_variant,,ENST00000418427,;NT5C1B,downstream_gene_variant,,ENST00000416783,;RNU6-1215P,upstream_gene_variant,,ENST00000384441,;NT5C1B,downstream_gene_variant,,ENST00000460052,;NT5C1B,3_prime_UTR_variant,,ENST00000406971,;NT5C1B,non_coding_transcript_exon_variant,,ENST00000490687,;	uc002rcz.2	c.1047G>A	1125/2475	2	2			c.1047G>A						2	SNP	c.(1045-1047)CCG>CCA	22	22			skin(2)|ovary(1)	3	Broad	5' nucleotidase, cytosolic IB isoform 1			18765378		0.587	ENSG00000185013	10497	g.chr2:18765378C>T	purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding							-45.165303	KEEP	5	4	-1	117	131	5	4	-1	12.931597	117	131	0.029289	1	0	0	0	0	0	0	1	0	--	--		0	T			NT5C1B_uc002rcy.2_Silent_p.P349P|NT5C1B_uc010exr.2_Silent_p.P291P|NT5C1B_uc010yju.1_Silent_p.P289P|NT5C1B_uc002rda.2_Silent_p.P289P|NT5C1B_uc010yjv.1_Silent_p.P366P|NT5C1B_uc010yjw.1_Silent_p.P332P|NT5C1B_uc010exs.2_Silent_p.P351P|NT5C1B_uc002rdb.1_Silent_p.P141P	87	GBM-06-2564-TP	p.P349P	C	ACGCCGGGCCCGGGGTCAGGA	NM_001002006	NP_001002006	18765378	Q96P26	5NT1B_HUMAN	0			6	1151	-	T	T	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)	Silent	349						
NT5C1B	0	broad.mit.edu	GRCh37	2	18766137	18766137	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-1747-01	TCGA-28-1747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359846.2:c.546G>A	p.Ser182=	p.S182=	ENST00000359846	NM_001199086.1	182	tcG/tcA	0			1			T	S	uc002rcz.2	protein_coding	YES	CCDS33150.1			546/1833									skin(2)|ovary(1)	3	c.(544-546)TCG>TCA			hmmpanther:PTHR31367,hmmpanther:PTHR31367:SF0,Low_complexity_(Seg):seg	5' nucleotidase, cytosolic IB isoform 1				ENSP00000352904		10-May									COSM3407400,COSM3407401	10-May	.		ENST00000359846	Transcript			purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	ENSG00000185013	g.chr2:18766137C>T	17818			LOW								--	--	1																																		NT5C1B_uc002rcy.2_Silent_p.S182S|NT5C1B_uc010exr.2_Silent_p.S124S|NT5C1B_uc010yju.1_Silent_p.S122S|NT5C1B_uc002rda.2_Silent_p.S122S|NT5C1B_uc010yjv.1_Silent_p.S199S|NT5C1B_uc010yjw.1_Silent_p.S165S|NT5C1B_uc010exs.2_Silent_p.S184S|NT5C1B_uc002rdb.1_5'UTR	1,1	1			p.S182S	NM_001002006	NP_001002006			1,1	5NT1B_HUMAN	NT5C1B	HGNC	Q96P26	5NT1B_HUMAN			B4DZ86_HUMAN		5	650	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)	UPI000035B1B0	182			Pro-rich.		SNV	NT5C1B,synonymous_variant,p.=,ENST00000304081,NM_033253.3;NT5C1B,synonymous_variant,p.=,ENST00000359846,NM_001199086.1,NM_001002006.2,NM_001199088.1,NM_001199087.1;NT5C1B-RDH14,synonymous_variant,p.=,ENST00000532967,NM_001199104.1;NT5C1B,synonymous_variant,p.=,ENST00000600945,;NT5C1B-RDH14,synonymous_variant,p.=,ENST00000444297,NM_001199103.1;NT5C1B,synonymous_variant,p.=,ENST00000416783,;NT5C1B,upstream_gene_variant,,ENST00000418427,;RNU6-1215P,upstream_gene_variant,,ENST00000384441,;NT5C1B,downstream_gene_variant,,ENST00000460052,;NT5C1B,missense_variant,p.Arg100His,ENST00000406971,;NT5C1B,non_coding_transcript_exon_variant,,ENST00000490687,;	uc002rcz.2	c.546G>A	624/2475	1	1			c.546G>A						2	SNP	c.(544-546)TCG>TCA	11	11			skin(2)|ovary(1)	3	Broad	5' nucleotidase, cytosolic IB isoform 1			18766137		0.716	ENSG00000185013	10497	g.chr2:18766137C>T	purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding							29.852801	KEEP	9	5	-1	10	7	9	5	-1	29.891491	10	7	0.454545	1	0	0	0	0	0	0	1	0	--	--		0	T			NT5C1B_uc002rcy.2_Silent_p.S182S|NT5C1B_uc010exr.2_Silent_p.S124S|NT5C1B_uc010yju.1_Silent_p.S122S|NT5C1B_uc002rda.2_Silent_p.S122S|NT5C1B_uc010yjv.1_Silent_p.S199S|NT5C1B_uc010yjw.1_Silent_p.S165S|NT5C1B_uc010exs.2_Silent_p.S184S|NT5C1B_uc002rdb.1_5'UTR	206	GBM-28-1747-TP	p.S182S	C	GCAGCTGGGGCGACGCGGGTG	NM_001002006	NP_001002006	18766137	Q96P26	5NT1B_HUMAN	0			5	650	-	T	T	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)	Silent	182			Pro-rich.			
NT5C1B	0	broad.mit.edu	GRCh37	2	18764143	18764143	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-5220-01	TCGA-28-5220-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359846.2:c.1192A>G	p.Asn398Asp	p.N398D	ENST00000359846	NM_001199086.1	398	Aat/Gat	0			1			C	N/D	uc002rcz.2	protein_coding	YES	CCDS33150.1			1192/1833									skin(2)|ovary(1)	3	c.(1192-1194)AAT>GAT			Pfam_domain:PF06189,hmmpanther:PTHR31367,hmmpanther:PTHR31367:SF0	5' nucleotidase, cytosolic IB isoform 1				ENSP00000352904		10-Jul									COSM3407398	10-Jul	.		ENST00000359846	Transcript			purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	ENSG00000185013	g.chr2:18764143T>C	17818			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=5NT1B_HUMAN&rb=337&re=604&var=N398D	NA	getma.org/?cm=var&var=hg19,2,18764143,T,C&fts=all	N398D	--	--	1																																		NT5C1B_uc002rcy.2_Missense_Mutation_p.N398D|NT5C1B_uc010exr.2_Missense_Mutation_p.N340D|NT5C1B_uc010yju.1_Missense_Mutation_p.N338D|NT5C1B_uc002rda.2_Missense_Mutation_p.N338D|NT5C1B_uc010yjv.1_Missense_Mutation_p.N415D|NT5C1B_uc010yjw.1_Missense_Mutation_p.N381D|NT5C1B_uc010exs.2_Missense_Mutation_p.N400D	1	1		possibly_damaging(0.838)	p.N398D	NM_001002006	NP_001002006		deleterious(0.03)	1	5NT1B_HUMAN	NT5C1B	HGNC	Q96P26	5NT1B_HUMAN			B4DZ86_HUMAN		7	1296	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)	UPI000035B1B0	398					SNV	NT5C1B,missense_variant,p.Asn338Asp,ENST00000304081,NM_033253.3;NT5C1B,missense_variant,p.Asn398Asp,ENST00000359846,NM_001199086.1,NM_001002006.2,NM_001199088.1,NM_001199087.1;NT5C1B-RDH14,missense_variant,p.Asn398Asp,ENST00000532967,NM_001199104.1;NT5C1B,missense_variant,p.Asn398Asp,ENST00000600945,;NT5C1B-RDH14,missense_variant,p.Asn340Asp,ENST00000444297,NM_001199103.1;NT5C1B,missense_variant,p.Asn53Asp,ENST00000418427,;NT5C1B,downstream_gene_variant,,ENST00000416783,;RNU6-1215P,downstream_gene_variant,,ENST00000384441,;NT5C1B,downstream_gene_variant,,ENST00000460052,;NT5C1B,3_prime_UTR_variant,,ENST00000406971,;NT5C1B,downstream_gene_variant,,ENST00000490687,;	uc002rcz.2	c.1192A>G	1270/2475	3	3			c.1192A>G						2	SNP	c.(1192-1194)AAT>GAT	58	58			skin(2)|ovary(1)	3	Broad	5' nucleotidase, cytosolic IB isoform 1			18764143		0.413	ENSG00000185013	10497	g.chr2:18764143T>C	purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding							-17.107506	KEEP	5	4	-1	95	74	5	4	-1	17.716867	95	74	0.044586	1	0	0	0	0	1	0	0	0	--	--		0	C			NT5C1B_uc002rcy.2_Missense_Mutation_p.N398D|NT5C1B_uc010exr.2_Missense_Mutation_p.N340D|NT5C1B_uc010yju.1_Missense_Mutation_p.N338D|NT5C1B_uc002rda.2_Missense_Mutation_p.N338D|NT5C1B_uc010yjv.1_Missense_Mutation_p.N415D|NT5C1B_uc010yjw.1_Missense_Mutation_p.N381D|NT5C1B_uc010exs.2_Missense_Mutation_p.N400D	226	GBM-28-5220-TP	p.N398D	T	CCGTAGTGATTGACGCTGTTT	NM_001002006	NP_001002006	18764143	Q96P26	5NT1B_HUMAN	0			7	1296	-	C	C	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)	Missense_Mutation	398						
NT5C1B	0	broad.mit.edu	GRCh37	2	18765887	18765887	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359846.2:c.796G>A	p.Glu266Lys	p.E266K	ENST00000359846	NM_001199086.1	266	Gag/Aag	0			1			T	E/K	uc002rcz.2	protein_coding	YES	CCDS33150.1			796/1833									skin(2)|ovary(1)	3	c.(796-798)GAG>AAG			hmmpanther:PTHR31367,hmmpanther:PTHR31367:SF0,Low_complexity_(Seg):seg	5' nucleotidase, cytosolic IB isoform 1				ENSP00000352904		10-May	8.24E-06					1.68E-05			rs781054410,COSM441969	10-May	.		ENST00000359846	Transcript			purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	ENSG00000185013	g.chr2:18765887C>T	17818			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=5NT1B_HUMAN&rb=101&re=282&var=E266K	NA	getma.org/?cm=var&var=hg19,2,18765887,C,T&fts=all	E266K	--	--	1																																		NT5C1B_uc002rcy.2_Missense_Mutation_p.E266K|NT5C1B_uc010exr.2_Missense_Mutation_p.E208K|NT5C1B_uc010yju.1_Missense_Mutation_p.E206K|NT5C1B_uc002rda.2_Missense_Mutation_p.E206K|NT5C1B_uc010yjv.1_Missense_Mutation_p.E283K|NT5C1B_uc010yjw.1_Missense_Mutation_p.E249K|NT5C1B_uc010exs.2_Missense_Mutation_p.E268K|NT5C1B_uc002rdb.1_Missense_Mutation_p.E58K	0,1	1		benign(0.368)	p.E266K	NM_001002006	NP_001002006		deleterious_low_confidence(0.01)	0,1	5NT1B_HUMAN	NT5C1B	HGNC	Q96P26	5NT1B_HUMAN			B4DZ86_HUMAN		5	900	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)	UPI000035B1B0	266					SNV	NT5C1B,missense_variant,p.Glu206Lys,ENST00000304081,NM_033253.3;NT5C1B,missense_variant,p.Glu266Lys,ENST00000359846,NM_001199086.1,NM_001002006.2,NM_001199088.1,NM_001199087.1;NT5C1B-RDH14,missense_variant,p.Glu266Lys,ENST00000532967,NM_001199104.1;NT5C1B,missense_variant,p.Glu266Lys,ENST00000600945,;NT5C1B-RDH14,missense_variant,p.Glu208Lys,ENST00000444297,NM_001199103.1;NT5C1B,upstream_gene_variant,,ENST00000418427,;NT5C1B,downstream_gene_variant,,ENST00000416783,;RNU6-1215P,upstream_gene_variant,,ENST00000384441,;NT5C1B,downstream_gene_variant,,ENST00000460052,;NT5C1B,synonymous_variant,p.=,ENST00000406971,;NT5C1B,non_coding_transcript_exon_variant,,ENST00000490687,;	uc002rcz.2	c.796G>A	874/2475	2	2			c.796G>A						2	SNP	c.(796-798)GAG>AAG	17	17			skin(2)|ovary(1)	3	Broad	5' nucleotidase, cytosolic IB isoform 1			18765887		0.652	ENSG00000185013	10497	g.chr2:18765887C>T	purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding							6.815639	KEEP	3	6	-1	8	12	3	6	-1	8.278556	8	12	0.1875	1	0	0	0	0	1	0	0	0	--	--		0	T			NT5C1B_uc002rcy.2_Missense_Mutation_p.E266K|NT5C1B_uc010exr.2_Missense_Mutation_p.E208K|NT5C1B_uc010yju.1_Missense_Mutation_p.E206K|NT5C1B_uc002rda.2_Missense_Mutation_p.E206K|NT5C1B_uc010yjv.1_Missense_Mutation_p.E283K|NT5C1B_uc010yjw.1_Missense_Mutation_p.E249K|NT5C1B_uc010exs.2_Missense_Mutation_p.E268K|NT5C1B_uc002rdb.1_Missense_Mutation_p.E58K	246	GBM-32-4211-TP	p.E266K	C	TGCTGCTGCTCGGACAGAGAG	NM_001002006	NP_001002006	18765887	Q96P26	5NT1B_HUMAN	0			5	900	-	T	T	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)	Missense_Mutation	266						
NT5C2	0	broad.mit.edu	GRCh37	10	104934623	104934623	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4929-01	TCGA-76-4929-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343289.5:c.93C>T	p.Ala31=	p.A31=	ENST00000343289	NM_012229.4	31	gcC/gcT	0			1			A	A	uc001kwo.2	protein_coding	YES	CCDS7544.1			93/1686										0	c.(91-93)GCC>GCT			PIRSF_domain:PIRSF017434,hmmpanther:PTHR12103,hmmpanther:PTHR12103:SF17	5'-nucleotidase, cytosolic II	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)			ENSP00000339479		18-Feb									COSM3396891	18-Feb	.		ENST00000343289	Transcript	1		purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding	ENSG00000076685	g.chr10:104934623G>A	8022			LOW								--	--	1																																		NT5C2_uc001kwq.2_Silent_p.A31A|NT5C2_uc001kwp.2_Intron	1	1			p.A31A	NM_012229	NP_036361			1	5NTC_HUMAN	NT5C2	HGNC	P49902	5NTC_HUMAN		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)			3	279	-		all_hematologic(284;0.176)|Colorectal(252;0.178)	UPI0000124F44	31					SNV	NT5C2,synonymous_variant,p.=,ENST00000343289,NM_012229.4,NM_001134373.2;NT5C2,synonymous_variant,p.=,ENST00000404739,;NT5C2,synonymous_variant,p.=,ENST00000470299,;NT5C2,non_coding_transcript_exon_variant,,ENST00000467380,;NT5C2,intron_variant,,ENST00000369857,;NT5C2,synonymous_variant,p.=,ENST00000461461,;NT5C2,synonymous_variant,p.=,ENST00000452156,;MARCKSL1P1,upstream_gene_variant,,ENST00000412473,;	uc001kwo.2	c.93C>T	181/5263	2	2			c.93C>T						10	SNP	c.(91-93)GCC>GCT	25	25				0	Broad	5'-nucleotidase, cytosolic II		Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	104934623		0.254	ENSG00000076685	10498	g.chr10:104934623G>A	purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding							-16.483383	KEEP	6	5	-1	99	94	6	5	-1	21.348621	99	94	0.050847	1	0	0	0	0	0	0	1	0	--	--		0	A			NT5C2_uc001kwq.2_Silent_p.A31A|NT5C2_uc001kwp.2_Intron	269	GBM-76-4929-TP	p.A31A	G	ACCGATGATAGGCTTCTCGAC	NM_012229	NP_036361	104934623	P49902	5NTC_HUMAN	0		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	3	279	-	A	A		all_hematologic(284;0.176)|Colorectal(252;0.178)	Silent	31						
NT5DC2	0	broad.mit.edu	GRCh37	3	52563292	52563292	+	synonymous_variant	Silent	SNP	G	G	A	rs148646310		TCGA-19-5959-01	TCGA-19-5959-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307076.4:c.180C>T	p.Asn60=	p.N60=	ENST00000307076	NM_022908.2	60	aaC/aaT	0	A:0.0002	A:0.0008	1	A:0		A	N	uc003deo.2	protein_coding		CCDS2858.1			180/1563										0	c.(178-180)AAC>AAT			hmmpanther:PTHR12103,hmmpanther:PTHR12103:SF14,Pfam_domain:PF05761,TIGRFAM_domain:TIGR02244,PIRSF_domain:PIRSF017434,Superfamily_domains:SSF56784	5'-nucleotidase domain containing 2 isoform 2		A:0	A:0	ENSP00000302468	A:0	14-Feb	3.30E-05	9.71E-05	8.68E-05					0.000121	rs148646310,COSM3408797	14-Feb	.		ENST00000307076	Transcript		A:0.0004			hydrolase activity|metal ion binding	ENSG00000168268	g.chr3:52563292G>A	25717			LOW								--	--	1																																		NT5DC2_uc003dem.2_5'Flank|NT5DC2_uc003den.2_Silent_p.N97N|NT5DC2_uc010hmi.2_Silent_p.N97N|NT5DC2_uc010hmj.2_Translation_Start_Site	0,1				p.N60N	NM_022908	NP_075059	A:0.001		0,1	NT5D2_HUMAN	NT5DC2	HGNC	Q9H857	NT5D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)			2	604	-			UPI0000072423	60					SNV	NT5DC2,synonymous_variant,p.=,ENST00000307076,NM_022908.2;NT5DC2,synonymous_variant,p.=,ENST00000422318,NM_001134231.1;NT5DC2,synonymous_variant,p.=,ENST00000307092,;NT5DC2,synonymous_variant,p.=,ENST00000459839,;NT5DC2,synonymous_variant,p.=,ENST00000489316,;NT5DC2,5_prime_UTR_variant,,ENST00000471522,;STAB1,downstream_gene_variant,,ENST00000321725,NM_015136.2;STAB1,downstream_gene_variant,,ENST00000469989,;NT5DC2,upstream_gene_variant,,ENST00000463947,;NT5DC2,non_coding_transcript_exon_variant,,ENST00000490681,;NT5DC2,non_coding_transcript_exon_variant,,ENST00000487779,;SMIM4,upstream_gene_variant,,ENST00000491607,;NT5DC2,3_prime_UTR_variant,,ENST00000492555,;STAB1,downstream_gene_variant,,ENST00000462741,;NT5DC2,upstream_gene_variant,,ENST00000479024,;NT5DC2,upstream_gene_variant,,ENST00000462261,;NT5DC2,upstream_gene_variant,,ENST00000466112,;NT5DC2,upstream_gene_variant,,ENST00000478091,;NT5DC2,upstream_gene_variant,,ENST00000469616,;NT5DC2,upstream_gene_variant,,ENST00000486792,;	uc003deo.2	c.180C>T	581/2047	2	2			c.180C>T						3	SNP	c.(178-180)AAC>AAT	33	33				0	Broad	5'-nucleotidase domain containing 2 isoform 2			52563292		0.592	ENSG00000168268	10502	g.chr3:52563292G>A			hydrolase activity|metal ion binding							57.790503	KEEP	11	9	-1	15	14	11	9	-1	58.081649	15	14	0.416667	1	0	0	0	0	0	0	1	0	--	--		0	A			NT5DC2_uc003dem.2_5'Flank|NT5DC2_uc003den.2_Silent_p.N97N|NT5DC2_uc010hmi.2_Silent_p.N97N|NT5DC2_uc010hmj.2_Translation_Start_Site	177	GBM-19-5959-TP	p.N60N	G	GGCTGATCTCGTTGTTGGCGT	NM_022908	NP_075059	52563292	Q9H857	NT5D2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)	2	604	-	A	A			Silent	60						
NT5E	0	broad.mit.edu	GRCh37	6	86203654	86203654	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01	TCGA-26-6174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257770.3:c.1657C>T	p.His553Tyr	p.H553Y	ENST00000257770	NM_002526.3	553	Cac/Tac	0			1			T	H/Y	uc003pko.3	protein_coding	YES	CCDS5002.1			1657/1725									ovary(3)|central_nervous_system(1)	4	c.(1657-1659)CAC>TAC			hmmpanther:PTHR11575:SF21,hmmpanther:PTHR11575	5' nucleotidase, ecto precursor	Pentoxifylline(DB00806)			ENSP00000257770		9-Sep									COSM3411326	9-Sep	.		ENST00000257770	Transcript	1		DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	ENSG00000135318	g.chr6:86203654C>T	8021			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=5NTD_HUMAN&rb=514&re=574&var=H553Y	NA	getma.org/?cm=var&var=hg19,6,86203654,C,T&fts=all	H553Y	--	--	1																																		NT5E_uc010kbr.2_Missense_Mutation_p.H503Y	1	1		benign(0.001)	p.H553Y	NM_002526	NP_002517		tolerated(1)	1	5NTD_HUMAN	NT5E	HGNC	P21589	5NTD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0417)			9	2213	+		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)	UPI0000124F48	553					SNV	NT5E,missense_variant,p.His553Tyr,ENST00000257770,NM_002526.3;NT5E,missense_variant,p.His503Tyr,ENST00000369651,NM_001204813.1;NT5E,downstream_gene_variant,,ENST00000437581,;NT5E,downstream_gene_variant,,ENST00000416334,;	uc003pko.3	c.1657C>T	1706/3548	2	2			c.1657C>T						6	SNP	c.(1657-1659)CAC>TAC	48	48			ovary(3)|central_nervous_system(1)	4	Broad	5' nucleotidase, ecto precursor		Pentoxifylline(DB00806)	86203654		0.363	ENSG00000135318	10504	g.chr6:86203654C>T	DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	Melanoma(140;797 1765 2035 2752 18208)			Melanoma(140;797 1765 2035 2752 18208)			35.147959	KEEP	9	11	-1	41	43	9	11	-1	43.166239	41	43	0.195652	1	0	0	0	0	1	0	0	0	--	--		0	T			NT5E_uc010kbr.2_Missense_Mutation_p.H503Y	188	GBM-26-6174-TP	p.H553Y	C	CACAGGAAGTCACTGCCATGG	NM_002526	NP_002517	86203654	P21589	5NTD_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.0417)	9	2213	+	T	T		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)	Missense_Mutation	553						
NT5E	0	broad.mit.edu	GRCh37	6	86197137	86197137	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-27-1835-01	TCGA-27-1835-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257770.3:c.1034A>G	p.Tyr345Cys	p.Y345C	ENST00000257770	NM_002526.3	345	tAt/tGt	0			1			G	Y/C	uc003pko.3	protein_coding	YES	CCDS5002.1			1034/1725									ovary(3)|central_nervous_system(1)	4	c.(1033-1035)TAT>TGT			Superfamily_domains:SSF55816,Gene3D:3.90.780.10,Pfam_domain:PF02872,hmmpanther:PTHR11575:SF21,hmmpanther:PTHR11575	5' nucleotidase, ecto precursor	Pentoxifylline(DB00806)			ENSP00000257770		9-May									COSM3411325	9-May	.		ENST00000257770	Transcript	1		DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	ENSG00000135318	g.chr6:86197137A>G	8021			MODERATE		2.795	medium	getma.org/?cm=msa&ty=f&p=5NTD_HUMAN&rb=338&re=513&var=Y345C	getma.org/pdb.php?prot=5NTD_HUMAN&from=338&to=513&var=Y345C	getma.org/?cm=var&var=hg19,6,86197137,A,G&fts=all	Y345C	--	--	1																																		NT5E_uc010kbr.2_Missense_Mutation_p.Y345C	1	1		probably_damaging(0.95)	p.Y345C	NM_002526	NP_002517		deleterious(0)	1	5NTD_HUMAN	NT5E	HGNC	P21589	5NTD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0417)			5	1590	+		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)	UPI0000124F48	345					SNV	NT5E,missense_variant,p.Tyr345Cys,ENST00000257770,NM_002526.3;NT5E,missense_variant,p.Tyr345Cys,ENST00000369651,NM_001204813.1;NT5E,missense_variant,p.Tyr41Cys,ENST00000437581,;NT5E,missense_variant,p.Tyr110Cys,ENST00000416334,;	uc003pko.3	c.1034A>G	1083/3548	3	3			c.1034A>G						6	SNP	c.(1033-1035)TAT>TGT	13	13			ovary(3)|central_nervous_system(1)	4	Broad	5' nucleotidase, ecto precursor		Pentoxifylline(DB00806)	86197137		0.393	ENSG00000135318	10504	g.chr6:86197137A>G	DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	Melanoma(140;797 1765 2035 2752 18208)			Melanoma(140;797 1765 2035 2752 18208)			-56.745018	KEEP	4	1	-1	130	143	4	1	-1	10.761929	130	143	0.019231	1	0	0	0	0	1	0	0	0	--	--		0	G			NT5E_uc010kbr.2_Missense_Mutation_p.Y345C	194	GBM-27-1835-TP	p.Y345C	A	ACAATTGTCTATCTGGATGGC	NM_002526	NP_002517	86197137	P21589	5NTD_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.0417)	5	1590	+	G	G		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)	Missense_Mutation	345						
NT5E	0	broad.mit.edu	GRCh37	6	86203692	86203692	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-32-2495-01	TCGA-32-2495-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257770.3:c.1695T>C	p.Leu565=	p.L565=	ENST00000257770	NM_002526.3	565	ctT/ctC	0			1			C	L	uc003pko.3	protein_coding	YES	CCDS5002.1			1695/1725									ovary(3)|central_nervous_system(1)	4	c.(1693-1695)CTT>CTC			hmmpanther:PTHR11575:SF21,hmmpanther:PTHR11575,Transmembrane_helices:TMhelix	5' nucleotidase, ecto precursor	Pentoxifylline(DB00806)			ENSP00000257770		9-Sep									COSM3411327	9-Sep	.		ENST00000257770	Transcript	1		DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	ENSG00000135318	g.chr6:86203692T>C	8021			LOW								--	--	1																																		NT5E_uc010kbr.2_Silent_p.L515L	1	1			p.L565L	NM_002526	NP_002517			1	5NTD_HUMAN	NT5E	HGNC	P21589	5NTD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0417)			9	2251	+		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)	UPI0000124F48	565					SNV	NT5E,synonymous_variant,p.=,ENST00000257770,NM_002526.3;NT5E,synonymous_variant,p.=,ENST00000369651,NM_001204813.1;NT5E,downstream_gene_variant,,ENST00000437581,;NT5E,downstream_gene_variant,,ENST00000416334,;	uc003pko.3	c.1695T>C	1744/3548	3	3			c.1695T>C						6	SNP	c.(1693-1695)CTT>CTC	15	15			ovary(3)|central_nervous_system(1)	4	Broad	5' nucleotidase, ecto precursor		Pentoxifylline(DB00806)	86203692		0.358	ENSG00000135318	10504	g.chr6:86203692T>C	DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	Melanoma(140;797 1765 2035 2752 18208)			Melanoma(140;797 1765 2035 2752 18208)			-13.551749	KEEP	2	2	-1	51	47	2	2	-1	7.535709	51	47	0.033708	1	0	0	0	0	0	0	1	0	--	--		0	C			NT5E_uc010kbr.2_Silent_p.L515L	237	GBM-32-2495-TP	p.L565L	T	TTCTTTCACTTTGGGCAGTGA	NM_002526	NP_002517	86203692	P21589	5NTD_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.0417)	9	2251	+	C	C		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)	Silent	565						
NTF3	4908	broad.mit.edu	GRCh37	12	5603799	5603799	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01	TCGA-06-0939-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000423158.3:c.458C>T	p.Ala153Val	p.A153V	ENST00000423158	NM_001102654.1	153	gCg/gTg	0			1			T	A/V	uc001qnl.3	protein_coding		CCDS8538.1			419/774									pancreas(1)	1	c.(418-420)GCG>GTG			Gene3D:2.10.90.10,PIRSF_domain:PIRSF001789,hmmpanther:PTHR11589,hmmpanther:PTHR11589:SF4,Superfamily_domains:SSF57501	neurotrophin 3 isoform 2 preproprotein				ENSP00000328738		1-Jan									COSM1934763	1-Jan	.		ENST00000331010	Transcript			signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	ENSG00000185652	g.chr12:5603799C>T	8023			MODERATE		2.845	medium	getma.org/?cm=msa&ty=f&p=NTF3_HUMAN&rb=1&re=140&var=A140V	NA	getma.org/?cm=var&var=hg19,12,5603799,C,T&fts=all	A140V	--	--	1																																		NTF3_uc001qnk.3_Missense_Mutation_p.A153V	1			probably_damaging(0.939)	p.A140V	NM_002527	NP_002518		deleterious(0.05)	1	NTF3_HUMAN	NTF3	HGNC	P20783	NTF3_HUMAN					1	502	+			UPI0000048FDB	140					SNV	NTF3,missense_variant,p.Ala153Val,ENST00000423158,NM_001102654.1;NTF3,missense_variant,p.Ala140Val,ENST00000331010,NM_002527.4;NTF3,intron_variant,,ENST00000535299,;NTF3,downstream_gene_variant,,ENST00000543548,;	uc001qnl.3	c.419C>T	502/1167	1	1			c.419C>T						12	SNP	c.(418-420)GCG>GTG	5	5			pancreas(1)	1	Broad	neurotrophin 3 isoform 2 preproprotein			5603799		0.602	ENSG00000185652	10507	g.chr12:5603799C>T	signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	GBM(194;1104 2182 8339 9578 18493)			GBM(194;1104 2182 8339 9578 18493)			101.611434	KEEP	22	35	-1	78	82	22	35	-1	114.170072	78	82	0.233161	1	0	0	0	0	1	0	0	0	--	--		0	T			NTF3_uc001qnk.3_Missense_Mutation_p.A153V	78	GBM-06-0939-TP	p.A140V	C	AAACGGTACGCGGAGCATAAG	NM_002527	NP_002518	5603799	P20783	NTF3_HUMAN	0			1	502	+	T	T			Missense_Mutation	140						
NTF3	0	broad.mit.edu	GRCh37	12	5603770	5603770	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-3653-01	TCGA-12-3653-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331010.6:c.390G>A	p.Ala130=	p.A130=	ENST00000331010	NM_002527.4	130	gcG/gcA	0			1			A	A	uc001qnl.3	protein_coding		CCDS8538.1			390/774									pancreas(1)	1	c.(388-390)GCG>GCA			PIRSF_domain:PIRSF001789,hmmpanther:PTHR11589,hmmpanther:PTHR11589:SF4	neurotrophin 3 isoform 2 preproprotein				ENSP00000328738		1-Jan									COSM3398874	1-Jan	.		ENST00000331010	Transcript			signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	ENSG00000185652	g.chr12:5603770G>A	8023			LOW								--	--	1																																		NTF3_uc001qnk.3_Silent_p.A143A	1				p.A130A	NM_002527	NP_002518			1	NTF3_HUMAN	NTF3	HGNC	P20783	NTF3_HUMAN					1	473	+			UPI0000048FDB	130					SNV	NTF3,synonymous_variant,p.=,ENST00000423158,NM_001102654.1;NTF3,synonymous_variant,p.=,ENST00000331010,NM_002527.4;NTF3,intron_variant,,ENST00000535299,;NTF3,downstream_gene_variant,,ENST00000543548,;	uc001qnl.3	c.390G>A	473/1167	2	2			c.390G>A						12	SNP	c.(388-390)GCG>GCA	21	21			pancreas(1)	1	Broad	neurotrophin 3 isoform 2 preproprotein			5603770		0.602	ENSG00000185652	10507	g.chr12:5603770G>A	signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	GBM(194;1104 2182 8339 9578 18493)			GBM(194;1104 2182 8339 9578 18493)			57.713832	KEEP	18	12	-1	70	62	18	12	-1	70.682407	70	62	0.191781	1	0	0	0	0	0	0	1	0	--	--		0	A			NTF3_uc001qnk.3_Silent_p.A143A	128	GBM-12-3653-TP	p.A130A	G	CCGTGGTGGCGAACAGAACAT	NM_002527	NP_002518	5603770	P20783	NTF3_HUMAN	0			1	473	+	A	A			Silent	130						
NTF4	4909		GRCh37	19	49564974	49564974	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000301411.3:c.281T>G	p.Leu94Arg	p.L94R	ENST00000301411	NM_006179.4	94	cTg/cGg	0																																																																																																																																																																																																																																												
NTMT1	0	broad.mit.edu	GRCh37	9	132394975	132394975	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A			TCGA-76-6285-01	TCGA-76-6285-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372480.1:c.-8G>A		*3*	ENST00000372480				0			1			A		uc004byd.1	protein_coding		CCDS35160.1			-/672										0	c.(-9--5)TGGTG>TGATG				methyltransferase like 11A				ENSP00000361558		4-Feb										4-Feb	.		ENST00000372480	Transcript			chromosome segregation|N-terminal peptidyl-proline dimethylation|N-terminal peptidyl-serine dimethylation|N-terminal peptidyl-serine trimethylation|spindle organization	nucleus	protein binding|protein methyltransferase activity	ENSG00000148335	g.chr9:132394975G>A	23373			MODIFIER								--	--	1																																		METTL11A_uc010myw.1_RNA|METTL11A_uc011mbs.1_Translation_Start_Site						NM_014064	NP_054783				NTM1A_HUMAN	NTMT1	HGNC	Q9BV86	NTM1A_HUMAN			S4R338_HUMAN		2	187	+			UPI000004A00F						SNV	NTMT1,5_prime_UTR_variant,,ENST00000372486,NM_001286796.1;NTMT1,5_prime_UTR_variant,,ENST00000372483,NM_014064.2,NM_001286797.1,NM_001286798.1;NTMT1,5_prime_UTR_variant,,ENST00000459968,;NTMT1,5_prime_UTR_variant,,ENST00000372480,;NTMT1,5_prime_UTR_variant,,ENST00000372481,NM_001286800.1;NTMT1,intron_variant,,ENST00000482347,NM_001286803.1;ASB6,downstream_gene_variant,,ENST00000277458,NM_017873.3;ASB6,downstream_gene_variant,,ENST00000277459,NM_177999.2;ASB6,downstream_gene_variant,,ENST00000450050,;NTMT1,non_coding_transcript_exon_variant,,ENST00000486391,;NTMT1,5_prime_UTR_variant,,ENST00000481189,;	uc004byd.1	c.-7G>A	145/852	2	2			c.-7G>A						9	SNP	c.(-9--5)TGGTG>TGATG	35	35				0	Broad	methyltransferase like 11A			132394975		0.577	ENSG00000148335	9320	g.chr9:132394975G>A	chromosome segregation|N-terminal peptidyl-proline dimethylation|N-terminal peptidyl-serine dimethylation|N-terminal peptidyl-serine trimethylation|spindle organization	nucleus	protein binding|protein methyltransferase activity							41.643066	KEEP	9	6	-1	10	15	9	6	-1	42.220118	10	15	0.368421	1	0	0	0	0	0	0	0	0	--	--		0	A			METTL11A_uc010myw.1_RNA|METTL11A_uc011mbs.1_Translation_Start_Site	280	GBM-76-6285-TP		G	GCCGTGGTTGGTGACAGCATG	NM_014064	NP_054783	132394975	Q9BV86	NTM1A_HUMAN	0			2	187	+	A	A			Translation_Start_Site							
NTN1	0	broad.mit.edu	GRCh37	17	9066204	9066204	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000173229.2:c.1093G>A	p.Gly365Arg	p.G365R	ENST00000173229	NM_004822.2	365	Gga/Aga	0			1			A	G/R	uc002glw.3	protein_coding	YES	CCDS11148.1			1093/1815										0	c.(1093-1095)GGA>AGA			PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF219,Pfam_domain:PF00053,Gene3D:2.10.25.10,SMART_domains:SM00180,Superfamily_domains:SSF57196	netrin 1 precursor				ENSP00000173229		7-Mar									COSM3403417	7-Mar	.		ENST00000173229	Transcript			apoptosis|axon guidance		protein binding	ENSG00000065320	g.chr17:9066204G>A	8029			MODERATE		3.88	high	getma.org/?cm=msa&ty=f&p=NET1_HUMAN&rb=341&re=401&var=G365R	getma.org/pdb.php?prot=NET1_HUMAN&from=341&to=401&var=G365R	getma.org/?cm=var&var=hg19,17,9066204,G,A&fts=all	G365R	--	--	1																																			1	1		probably_damaging(0.982)	p.G365R	NM_004822	NP_004813		deleterious(0)	1	NET1_HUMAN	NTN1	HGNC	O95631	NET1_HUMAN					3	1200	+			UPI000013C5C7	365			Laminin EGF-like 2.		SNV	NTN1,missense_variant,p.Gly365Arg,ENST00000173229,NM_004822.2;NTN1,missense_variant,p.Gly365Arg,ENST00000538852,;NTN1,missense_variant,p.Gly365Arg,ENST00000546090,;NTN1,upstream_gene_variant,,ENST00000436734,;	uc002glw.3	c.1093G>A	1200/5954	2	2			c.1093G>A						17	SNP	c.(1093-1095)GGA>AGA	42	42				0	Broad	netrin 1 precursor			9066204		0.627	ENSG00000065320	10511	g.chr17:9066204G>A	apoptosis|axon guidance		protein binding							85.053242	KEEP	19	13	-1	30	29	19	13	-1	86.280485	30	29	0.367089	1	0	0	0	0	1	0	0	0	--	--		0	A				220	GBM-28-5213-TP	p.G365R	G	GCGCAAGAGCGGAGGTGTCTG	NM_004822	NP_004813	9066204	O95631	NET1_HUMAN	0			3	1200	+	A	A			Missense_Mutation	365			Laminin EGF-like 2.			
NTN1	9423		GRCh37	17	9066306	9066306	+	stop_gained	Nonsense_Mutation	SNP	A	A	T			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000173229.2:c.1195A>T	p.Lys399Ter	p.K399*	ENST00000173229	NM_004822.2	399	Aag/Tag	0																																																																																																																																																																																																																																												
NTN4	59277	broad.mit.edu	GRCh37	12	96180812	96180812	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0185-01	TCGA-06-0185-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343702.4:c.490T>C	p.Cys164Arg	p.C164R	ENST00000343702	NM_021229.3	164	Tgc/Cgc	0			1			G	C/R	uc001tei.2	protein_coding	YES	CCDS9054.1			490/1887									upper_aerodigestive_tract(1)|ovary(1)	2	c.(490-492)TGC>CGC			Pfam_domain:PF00055,PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF260,SMART_domains:SM00136	netrin 4 precursor				ENSP00000340998		10-Feb									COSM3399199	10-Feb	.		ENST00000343702	Transcript			axon guidance	basement membrane|plasma membrane		ENSG00000074527	g.chr12:96180812A>G	13658			MODERATE		3.875	high	getma.org/?cm=msa&ty=f&p=NET4_HUMAN&rb=34&re=260&var=C164R	getma.org/pdb.php?prot=NET4_HUMAN&from=34&to=260&var=C164R	getma.org/?cm=var&var=hg19,12,96180812,A,G&fts=all	C164R	--	--	1																																		NTN4_uc009ztf.2_Missense_Mutation_p.C164R|NTN4_uc009ztg.2_Missense_Mutation_p.C127R	1	1		probably_damaging(1)	p.C164R	NM_021229	NP_067052		deleterious(0)	1	NET4_HUMAN	NTN4	HGNC	Q9HB63	NET4_HUMAN			F8W0I7_HUMAN		2	939	-			UPI0000049824	164			Laminin N-terminal.		SNV	NTN4,missense_variant,p.Cys164Arg,ENST00000343702,NM_021229.3;NTN4,missense_variant,p.Cys127Arg,ENST00000344911,;NTN4,missense_variant,p.Cys127Arg,ENST00000538383,;NTN4,missense_variant,p.Cys164Arg,ENST00000553059,;NTN4,missense_variant,p.Cys127Arg,ENST00000547980,;	uc001tei.2	c.490T>C	939/3615	4	4			c.490T>C						12	SNP	c.(490-492)TGC>CGC	20	20			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	netrin 4 precursor			96180812		0.493	ENSG00000074527	10513	g.chr12:96180812A>G	axon guidance	basement membrane|plasma membrane								0.843346	KEEP	5	7	-1	72	64	5	7	-1	25.463325	72	64	0.075188	1	0	0	0	0	1	0	0	0	--	--		0	G			NTN4_uc009ztf.2_Missense_Mutation_p.C164R|NTN4_uc009ztg.2_Missense_Mutation_p.C127R	40	GBM-06-0185-TP	p.C164R	A	GTAGCGGAGCAGTTAGTCGCA	NM_021229	NP_067052	96180812	Q9HB63	NET4_HUMAN	0			2	939	-	G	G			Missense_Mutation	164			Laminin N-terminal.			
NTN4	59277	broad.mit.edu	GRCh37	12	96052972	96052972	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01	TCGA-06-0219-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343702.4:c.1777G>A	p.Glu593Lys	p.E593K	ENST00000343702	NM_021229.3	593	Gag/Aag	0			1			T	E/K	uc001tei.2	protein_coding	YES	CCDS9054.1			1777/1887									upper_aerodigestive_tract(1)|ovary(1)	2	c.(1777-1779)GAG>AAG			Gene3D:2.40.50.120,Pfam_domain:PF01759,PROSITE_profiles:PS50189,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF260,SMART_domains:SM00643,Superfamily_domains:SSF50242	netrin 4 precursor				ENSP00000340998		10-Oct									COSM2150952	10-Oct	.		ENST00000343702	Transcript			axon guidance	basement membrane|plasma membrane		ENSG00000074527	g.chr12:96052972C>T	13658			MODERATE		2.165	medium	getma.org/?cm=msa&ty=f&p=NET4_HUMAN&rb=517&re=624&var=E593K	NA	getma.org/?cm=var&var=hg19,12,96052972,C,T&fts=all	E593K	--	--	1																																		NTN4_uc009ztf.2_Missense_Mutation_p.E570K|NTN4_uc009ztg.2_Missense_Mutation_p.E556K	1	1		possibly_damaging(0.734)	p.E593K	NM_021229	NP_067052		tolerated(0.05)	1	NET4_HUMAN	NTN4	HGNC	Q9HB63	NET4_HUMAN			F8W0I7_HUMAN		10	2226	-			UPI0000049824	593			NTR.		SNV	NTN4,missense_variant,p.Glu593Lys,ENST00000343702,NM_021229.3;NTN4,missense_variant,p.Glu556Lys,ENST00000344911,;NTN4,missense_variant,p.Glu556Lys,ENST00000538383,;NTN4,missense_variant,p.Glu570Lys,ENST00000553059,;PGAM1P5,intron_variant,,ENST00000552554,;NTN4,downstream_gene_variant,,ENST00000550074,;	uc001tei.2	c.1777G>A	2226/3615	2	2			c.1777G>A						12	SNP	c.(1777-1779)GAG>AAG	35	35			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	netrin 4 precursor			96052972		0.368	ENSG00000074527	10513	g.chr12:96052972C>T	axon guidance	basement membrane|plasma membrane								95.046966	KEEP	16	23	-1	38	52	16	23	-1	99.33925	38	52	0.3	1	0	0	0	0	1	0	0	0	--	--		0	T			NTN4_uc009ztf.2_Missense_Mutation_p.E570K|NTN4_uc009ztg.2_Missense_Mutation_p.E556K	52	GBM-06-0219-TP	p.E593K	C	CTTATATCCTCATGTCCTGCT	NM_021229	NP_067052	96052972	Q9HB63	NET4_HUMAN	0			10	2226	-	T	T			Missense_Mutation	593			NTR.			
NTN4	0	broad.mit.edu	GRCh37	12	96076575	96076575	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-19-5950-01	TCGA-19-5950-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343702.4:c.1418A>C	p.His473Pro	p.H473P	ENST00000343702	NM_021229.3	473	cAt/cCt	0			1			G	H/P	uc001tei.2	protein_coding	YES	CCDS9054.1			1418/1887									upper_aerodigestive_tract(1)|ovary(1)	2	c.(1417-1419)CAT>CCT			hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF260	netrin 4 precursor				ENSP00000340998		10-Jul									COSM2156549	10-Jul	.		ENST00000343702	Transcript			axon guidance	basement membrane|plasma membrane		ENSG00000074527	g.chr12:96076575T>G	13658			MODERATE		1.265	low	getma.org/?cm=msa&ty=f&p=NET4_HUMAN&rb=452&re=516&var=H473P	NA	getma.org/?cm=var&var=hg19,12,96076575,T,G&fts=all	H473P	--	--	1																																		NTN4_uc009ztf.2_Missense_Mutation_p.H473P|NTN4_uc009ztg.2_Missense_Mutation_p.H436P	1	1		benign(0.065)	p.H473P	NM_021229	NP_067052		tolerated(0.18)	1	NET4_HUMAN	NTN4	HGNC	Q9HB63	NET4_HUMAN			F8W0I7_HUMAN		7	1867	-			UPI0000049824	473					SNV	NTN4,missense_variant,p.His473Pro,ENST00000343702,NM_021229.3;NTN4,missense_variant,p.His436Pro,ENST00000344911,;NTN4,missense_variant,p.His436Pro,ENST00000538383,;NTN4,missense_variant,p.His473Pro,ENST00000553059,;	uc001tei.2	c.1418A>C	1867/3615	3	3			c.1418A>C						12	SNP	c.(1417-1419)CAT>CCT	11	11			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	netrin 4 precursor			96076575		0.423	ENSG00000074527	10513	g.chr12:96076575T>G	axon guidance	basement membrane|plasma membrane								92.212403	KEEP	12	19	-1	22	26	12	19	-1	92.924552	22	26	0.391304	1	0	0	0	0	1	0	0	0	--	--		0	G			NTN4_uc009ztf.2_Missense_Mutation_p.H473P|NTN4_uc009ztg.2_Missense_Mutation_p.H436P	170	GBM-19-5950-TP	p.H473P	T	AGGAACTTCATGATACCAGTC	NM_021229	NP_067052	96076575	Q9HB63	NET4_HUMAN	0			7	1867	-	G	G			Missense_Mutation	473						
NTN4	59277		GRCh37	12	96131834	96131834	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000343702.4:c.674G>A	p.Arg225His	p.R225H	ENST00000343702	NM_021229.3	225	cGc/cAc	0																																																																																																																																																																																																																																												
NTNG1	0	broad.mit.edu	GRCh37	1	107867040	107867040	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-2631-01	TCGA-19-2631-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370068.1:c.383A>G	p.Lys128Arg	p.K128R	ENST00000370068		128	aAg/aGg	0			1			G	K/R	uc001dvh.3	protein_coding	YES	CCDS44180.1			383/1620									large_intestine(2)|ovary(2)|skin(2)	6	c.(382-384)AAG>AGG			Gene3D:2.60.120.260,Pfam_domain:PF00055,PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF28,SMART_domains:SM00136	netrin G1 isoform 1				ENSP00000359085		8-Mar									COSM3399509,COSM3399507,COSM3399508,COSM3399510	8-Mar	.		ENST00000370068	Transcript	1		axonogenesis	anchored to plasma membrane	protein binding	ENSG00000162631	g.chr1:107867040A>G	23319			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=NTNG1_HUMAN&rb=50&re=295&var=K128R	getma.org/pdb.php?prot=NTNG1_HUMAN&from=50&to=295&var=K128R	getma.org/?cm=var&var=hg19,1,107867040,A,G&fts=all	K128R	--	--	1																																		NTNG1_uc001dvf.3_Missense_Mutation_p.K128R|NTNG1_uc010out.1_Missense_Mutation_p.K128R|NTNG1_uc001dvc.3_Missense_Mutation_p.K128R|NTNG1_uc001dvd.1_Missense_Mutation_p.K128R	1,1,1,1	1		probably_damaging(0.978)	p.K128R	NM_001113226	NP_001106697		tolerated(0.09)	1,1,1,1	NTNG1_HUMAN	NTNG1	HGNC	Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	Q5IEC8_HUMAN		3	1101	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	UPI0000458A3E	128			Laminin N-terminal.		SNV	NTNG1,missense_variant,p.Lys128Arg,ENST00000370067,;NTNG1,missense_variant,p.Lys128Arg,ENST00000370068,;NTNG1,missense_variant,p.Lys128Arg,ENST00000370073,NM_001113226.1;NTNG1,missense_variant,p.Lys128Arg,ENST00000370071,NM_001113228.1;NTNG1,missense_variant,p.Lys128Arg,ENST00000370074,NM_014917.2;NTNG1,missense_variant,p.Lys128Arg,ENST00000542803,;NTNG1,missense_variant,p.Lys128Arg,ENST00000370061,;NTNG1,missense_variant,p.Lys128Arg,ENST00000370072,;NTNG1,missense_variant,p.Lys128Arg,ENST00000370070,;NTNG1,missense_variant,p.Lys128Arg,ENST00000370065,;NTNG1,missense_variant,p.Lys128Arg,ENST00000370066,;NTNG1,non_coding_transcript_exon_variant,,ENST00000477948,;NTNG1,non_coding_transcript_exon_variant,,ENST00000294649,;	uc001dvh.3	c.383A>G	1229/4034	3	3			c.383A>G						1	SNP	c.(382-384)AAG>AGG	3	3			large_intestine(2)|ovary(2)|skin(2)	6	Broad	netrin G1 isoform 1			107867040		0.478	ENSG00000162631	10515	g.chr1:107867040A>G	axonogenesis	anchored to plasma membrane	protein binding							-40.541152	KEEP	0	3	-1	126	121	0	3	-1	7.008224	126	121	0.016667	1	0	0	0	0	1	0	0	0	--	--		0	G			NTNG1_uc001dvf.3_Missense_Mutation_p.K128R|NTNG1_uc010out.1_Missense_Mutation_p.K128R|NTNG1_uc001dvc.3_Missense_Mutation_p.K128R|NTNG1_uc001dvd.1_Missense_Mutation_p.K128R	167	GBM-19-2631-TP	p.K128R	A	GAGTATCCCAAGCCTCTCCAG	NM_001113226	NP_001106697	107867040	Q9Y2I2	NTNG1_HUMAN	0		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	3	1101	+	G	G		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	Missense_Mutation	128			Laminin N-terminal.			
NTNG2	84628	broad.mit.edu	GRCh37	9	135073896	135073896	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0190-01	TCGA-06-0190-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393229.3:c.757C>T	p.Arg253Cys	p.R253C	ENST00000393229	NM_032536.2	253	Cgc/Tgc	0			1			T	R/C	uc004cbh.2	protein_coding	YES	CCDS6946.1			757/1593										0	c.(757-759)CGC>TGC			SMART_domains:SM00136,Pfam_domain:PF00055,hmmpanther:PTHR10574,PROSITE_profiles:PS51117	netrin G2 precursor				ENSP00000376921		8-Mar									COSM3413403,COSM3413404,COSM3413405	8-Mar	.		ENST00000393229	Transcript			axonogenesis	anchored to plasma membrane		ENSG00000196358	g.chr9:135073896C>T	14288			MODERATE		2.93	medium	getma.org/?cm=msa&ty=f&p=NTNG2_HUMAN&rb=39&re=285&var=R253C	getma.org/pdb.php?prot=NTNG2_HUMAN&from=39&to=285&var=R253C	getma.org/?cm=var&var=hg19,9,135073896,C,T&fts=all	R253C	--	--	1																																			1,1,1	1		probably_damaging(0.997)	p.R253C	NM_032536	NP_115925		deleterious(0)	1,1,1	NTNG2_HUMAN	NTNG2	HGNC	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)			3	1533	+			UPI0000367698	253			Laminin N-terminal.		SNV	NTNG2,missense_variant,p.Arg253Cys,ENST00000393229,NM_032536.2;NTNG2,missense_variant,p.Arg253Cys,ENST00000360670,;NTNG2,missense_variant,p.Arg253Cys,ENST00000393228,;NTNG2,missense_variant,p.Arg253Cys,ENST00000372179,;	uc004cbh.2	c.757C>T	1533/4792	1	1			c.757C>T						9	SNP	c.(757-759)CGC>TGC	10	10				0	Broad	netrin G2 precursor			135073896		0.637	ENSG00000196358	10516	g.chr9:135073896C>T	axonogenesis	anchored to plasma membrane								41.406292	KEEP	15	14	-1	57	82	15	14	-1	54.011811	57	82	0.170732	1	0	0	0	0	1	0	0	0	--	--		0	T				43	GBM-06-0190-TP	p.R253C	C	CACCGACCTGCGCATGCGGCT	NM_032536	NP_115925	135073896	Q96CW9	NTNG2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	3	1533	+	T	T			Missense_Mutation	253			Laminin N-terminal.			
NTNG2	84628	broad.mit.edu	GRCh37	9	135073844	135073844	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393229.3:c.705G>A	p.Thr235=	p.T235=	ENST00000393229	NM_032536.2	235	acG/acA	0			1			A	T	uc004cbh.2	protein_coding	YES	CCDS6946.1			705/1593										0	c.(703-705)ACG>ACA			SMART_domains:SM00136,Pfam_domain:PF00055,hmmpanther:PTHR10574,PROSITE_profiles:PS51117	netrin G2 precursor				ENSP00000376921		8-Mar									COSM3413400,COSM3413401,COSM3413402	8-Mar	.		ENST00000393229	Transcript			axonogenesis	anchored to plasma membrane		ENSG00000196358	g.chr9:135073844G>A	14288			LOW								--	--	1																																			1,1,1	1			p.T235T	NM_032536	NP_115925			1,1,1	NTNG2_HUMAN	NTNG2	HGNC	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)			3	1481	+			UPI0000367698	235			Laminin N-terminal.		SNV	NTNG2,synonymous_variant,p.=,ENST00000393229,NM_032536.2;NTNG2,synonymous_variant,p.=,ENST00000360670,;NTNG2,synonymous_variant,p.=,ENST00000393228,;NTNG2,synonymous_variant,p.=,ENST00000372179,;	uc004cbh.2	c.705G>A	1481/4792	2	2			c.705G>A						9	SNP	c.(703-705)ACG>ACA	44	44				0	Broad	netrin G2 precursor			135073844		0.677	ENSG00000196358	10516	g.chr9:135073844G>A	axonogenesis	anchored to plasma membrane								311.935678	KEEP	49	58	-1	15	26	49	58	-1	318.275144	15	26	0.730769	1	0	0	0	0	0	0	1	0	--	--		0	A				102	GBM-06-5858-TP	p.T235T	G	ACCTCTACACGCGGCTGGAGA	NM_032536	NP_115925	135073844	Q96CW9	NTNG2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	3	1481	+	A	A			Silent	235			Laminin N-terminal.			
NTNG2	84628		GRCh37	9	135042315	135042315	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000393229.3:c.97A>C	p.Thr33Pro	p.T33P	ENST00000393229	NM_032536.2	33	Acc/Ccc	0																																																																																																																																																																																																																																												
NTRK1	4914	broad.mit.edu	GRCh37	1	156836717	156836717	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000524377.1:c.375C>T	p.Asn125=	p.N125=	ENST00000524377	NM_002529.3	125	aaC/aaT	0			1			T	N	uc001fqh.1	protein_coding	YES	CCDS1161.1			375/2391	T		TPM3|TPR|TFG		papillary thyroid				lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	c.(373-375)AAC>AAT			Gene3D:3.80.10.10,Pfam_domain:PF13855,Superfamily_domains:SSF52058	neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)			ENSP00000431418		17-Apr	4.94E-05	9.61E-05	8.64E-05			1.50E-05		0.000182	rs757803799,COSM2149584,COSM2149585	17-Apr	.		ENST00000524377	Transcript	1		activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	ENSG00000198400	g.chr1:156836717C>T	8031			LOW								--	--	1				TSP Lung(10;0.080)																														NTRK1_uc001fqf.1_Silent_p.N95N|NTRK1_uc009wsi.1_Translation_Start_Site|NTRK1_uc001fqi.1_Silent_p.N125N|NTRK1_uc009wsk.1_Silent_p.N125N	0,1,1	1			p.N125N	NM_002529	NP_002520			0,1,1	NTRK1_HUMAN	NTRK1	HGNC	P04629	NTRK1_HUMAN					4	431	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		UPI000013D5D3	125			LRR 2.|Extracellular (Potential).		SNV	NTRK1,synonymous_variant,p.=,ENST00000368196,NM_001012331.1;NTRK1,synonymous_variant,p.=,ENST00000392302,NM_001007792.1;NTRK1,synonymous_variant,p.=,ENST00000358660,;NTRK1,synonymous_variant,p.=,ENST00000524377,NM_002529.3;NTRK1,intron_variant,,ENST00000489021,;NTRK1,synonymous_variant,p.=,ENST00000497019,;NTRK1,non_coding_transcript_exon_variant,,ENST00000530298,;NTRK1,downstream_gene_variant,,ENST00000533630,;	uc001fqh.1	c.375C>T	416/2432	2	2			c.375C>T	T		TPM3|TPR|TFG		papillary thyroid	1	SNP	c.(373-375)AAC>AAT	44	44			lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	Broad	neurotrophic tyrosine kinase, receptor, type 1		Imatinib(DB00619)	156836717		0.587	ENSG00000198400	10517	g.chr1:156836717C>T	activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			290			290	126.164778	KEEP	31	19	-1	50	41	31	19	-1	129.041905	50	41	0.341085	1	0	0	0	0	0	0	1	0	--	--	TSP Lung(10;0.080)	0	T			NTRK1_uc001fqf.1_Silent_p.N95N|NTRK1_uc009wsi.1_Translation_Start_Site|NTRK1_uc001fqi.1_Silent_p.N125N|NTRK1_uc009wsk.1_Silent_p.N125N	18	GBM-06-0137-TP	p.N125N	C	TCTCCTTCAACGCTCTGGAGT	NM_002529	NP_002520	156836717	P04629	NTRK1_HUMAN	0			4	431	+	T	T	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		Silent	125			LRR 2.|Extracellular (Potential).			
NTRK1	4914	broad.mit.edu	GRCh37	1	156841494	156841494	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-6391-01	TCGA-06-6391-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000524377.1:c.797G>A	p.Trp266Ter	p.W266*	ENST00000524377	NM_002529.3	266	tGg/tAg	0			1			A	W/*	uc001fqh.1	protein_coding	YES	CCDS1161.1			797/2391	T		TPM3|TPR|TFG		papillary thyroid				lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	c.(796-798)TGG>TAG			Gene3D:2.60.40.10,Pfam_domain:PF13895,Prints_domain:PR01939,PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF133,Superfamily_domains:SSF48726	neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)			ENSP00000431418		17-Jul										17-Jul	.		ENST00000524377	Transcript	1		activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	ENSG00000198400	g.chr1:156841494G>A	8031			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,156841494,G,A&fts=all	W266*	--	--	1				TSP Lung(10;0.080)																														NTRK1_uc001fqf.1_Nonsense_Mutation_p.W236*|NTRK1_uc009wsi.1_Intron|NTRK1_uc001fqi.1_Nonsense_Mutation_p.W266*|NTRK1_uc009wsk.1_Nonsense_Mutation_p.W266*		1			p.W266*	NM_002529	NP_002520				NTRK1_HUMAN	NTRK1	HGNC	P04629	NTRK1_HUMAN					7	853	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		UPI000013D5D3	266			Ig-like C2-type 1.|Extracellular (Potential).		SNV	NTRK1,stop_gained,p.Trp266Ter,ENST00000368196,NM_001012331.1;NTRK1,stop_gained,p.Trp236Ter,ENST00000392302,NM_001007792.1;NTRK1,stop_gained,p.Trp266Ter,ENST00000358660,;NTRK1,stop_gained,p.Trp266Ter,ENST00000524377,NM_002529.3;NTRK1,intron_variant,,ENST00000489021,;NTRK1,non_coding_transcript_exon_variant,,ENST00000530298,;NTRK1,intron_variant,,ENST00000497019,;NTRK1,upstream_gene_variant,,ENST00000534682,;	uc001fqh.1	c.797G>A	838/2432	5	2			c.797G>A	T		TPM3|TPR|TFG		papillary thyroid	1	SNP	c.(796-798)TGG>TAG	22	22			lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	Broad	neurotrophic tyrosine kinase, receptor, type 1		Imatinib(DB00619)	156841494		0.592	ENSG00000198400	10517	g.chr1:156841494G>A	activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			290			290	50.309933	KEEP	9	15	-1	36	52	9	15	-1	58.497446	36	52	0.209524	1	0	0	0	0	0	1	0	0	--	--	TSP Lung(10;0.080)	0	A			NTRK1_uc001fqf.1_Nonsense_Mutation_p.W236*|NTRK1_uc009wsi.1_Intron|NTRK1_uc001fqi.1_Nonsense_Mutation_p.W266*|NTRK1_uc009wsk.1_Nonsense_Mutation_p.W266*	107	GBM-06-6391-TP	p.W266*	G	GTGACGTGCTGGGCAGAGAAC	NM_002529	NP_002520	156841494	P04629	NTRK1_HUMAN	0			7	853	+	A	A	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		Nonsense_Mutation	266			Ig-like C2-type 1.|Extracellular (Potential).			
NTRK1	0	broad.mit.edu	GRCh37	1	156834161	156834161	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2619-01	TCGA-19-2619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000524377.1:c.228G>A	p.Gln76=	p.Q76=	ENST00000524377	NM_002529.3	76	caG/caA	0			1			A	Q	uc001fqh.1	protein_coding	YES	CCDS1161.1			228/2391	T		TPM3|TPR|TFG		papillary thyroid				lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	c.(226-228)CAG>CAA			Gene3D:3.80.10.10,Superfamily_domains:SSF52058	neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)			ENSP00000431418		17-Feb									COSM2156162,COSM2156163	17-Feb	.		ENST00000524377	Transcript	1		activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	ENSG00000198400	g.chr1:156834161G>A	8031			LOW								--	--	1				TSP Lung(10;0.080)																														NTRK1_uc001fqf.1_Silent_p.Q46Q|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Silent_p.Q76Q|NTRK1_uc009wsk.1_Silent_p.Q76Q	1,1	1			p.Q76Q	NM_002529	NP_002520			1,1	NTRK1_HUMAN	NTRK1	HGNC	P04629	NTRK1_HUMAN					2	284	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		UPI000013D5D3	76			Extracellular (Potential).		SNV	NTRK1,synonymous_variant,p.=,ENST00000368196,NM_001012331.1;NTRK1,synonymous_variant,p.=,ENST00000392302,NM_001007792.1;NTRK1,synonymous_variant,p.=,ENST00000358660,;NTRK1,synonymous_variant,p.=,ENST00000524377,NM_002529.3;NTRK1,intron_variant,,ENST00000489021,;NTRK1,synonymous_variant,p.=,ENST00000497019,;NTRK1,non_coding_transcript_exon_variant,,ENST00000530298,;NTRK1,non_coding_transcript_exon_variant,,ENST00000533630,;	uc001fqh.1	c.228G>A	269/2432	2	2			c.228G>A	T		TPM3|TPR|TFG		papillary thyroid	1	SNP	c.(226-228)CAG>CAA	33	33			lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	Broad	neurotrophic tyrosine kinase, receptor, type 1		Imatinib(DB00619)	156834161		0.587	ENSG00000198400	10517	g.chr1:156834161G>A	activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			290			290	427.088083	KEEP	69	84	-1	40	22	69	84	-1	435.648928	40	22	0.734104	1	0	0	0	0	0	0	1	0	--	--	TSP Lung(10;0.080)	0	A			NTRK1_uc001fqf.1_Silent_p.Q46Q|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Silent_p.Q76Q|NTRK1_uc009wsk.1_Silent_p.Q76Q	161	GBM-19-2619-TP	p.Q76Q	G	TCGAGAACCAGCAGCATCTGC	NM_002529	NP_002520	156834161	P04629	NTRK1_HUMAN	0			2	284	+	A	A	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		Silent	76			Extracellular (Potential).			
NTRK1	0	broad.mit.edu	GRCh37	1	156849919	156849919	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000524377.1:c.2175G>A	p.Lys725=	p.K725=	ENST00000524377	NM_002529.3	725	aaG/aaA	0			1			A	K	uc001fqh.1	protein_coding	YES	CCDS1161.1			2175/2391	T		TPM3|TPR|TFG		papillary thyroid				lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	c.(2173-2175)AAG>AAA			Gene3D:1.10.510.10,Pfam_domain:PF07714,Prints_domain:PR00109,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF133,SMART_domains:SM00219,Superfamily_domains:SSF56112	neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)			ENSP00000431418		16/17									COSM2157480,COSM2157481	16/17	.		ENST00000524377	Transcript	1		activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	ENSG00000198400	g.chr1:156849919G>A	8031			LOW								--	--	1				TSP Lung(10;0.080)																														NTRK1_uc001fqf.1_Silent_p.K689K|NTRK1_uc009wsi.1_Silent_p.K424K|NTRK1_uc001fqi.1_Silent_p.K719K|NTRK1_uc009wsk.1_Silent_p.K722K	1,1	1			p.K725K	NM_002529	NP_002520			1,1	NTRK1_HUMAN	NTRK1	HGNC	P04629	NTRK1_HUMAN					16	2231	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		UPI000013D5D3	725			Cytoplasmic (Potential).|Protein kinase.		SNV	NTRK1,synonymous_variant,p.=,ENST00000368196,NM_001012331.1;NTRK1,synonymous_variant,p.=,ENST00000392302,NM_001007792.1;NTRK1,synonymous_variant,p.=,ENST00000358660,;NTRK1,synonymous_variant,p.=,ENST00000524377,NM_002529.3;NTRK1,non_coding_transcript_exon_variant,,ENST00000531606,;NTRK1,3_prime_UTR_variant,,ENST00000497019,;NTRK1,non_coding_transcript_exon_variant,,ENST00000530298,;NTRK1,downstream_gene_variant,,ENST00000534682,;	uc001fqh.1	c.2175G>A	2216/2432	2	2			c.2175G>A	T		TPM3|TPR|TFG		papillary thyroid	1	SNP	c.(2173-2175)AAG>AAA	33	33			lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	Broad	neurotrophic tyrosine kinase, receptor, type 1		Imatinib(DB00619)	156849919		0.632	ENSG00000198400	10517	g.chr1:156849919G>A	activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			290			290	257.168991	KEEP	47	54	-1	76	70	47	54	-1	258.806405	76	70	0.406542	1	0	0	0	0	0	0	1	0	--	--	TSP Lung(10;0.080)	0	A			NTRK1_uc001fqf.1_Silent_p.K689K|NTRK1_uc009wsi.1_Silent_p.K424K|NTRK1_uc001fqi.1_Silent_p.K719K|NTRK1_uc009wsk.1_Silent_p.K722K	265	GBM-76-4925-TP	p.K725K	G	CCTACGGCAAGCAGCCCTGGT	NM_002529	NP_002520	156849919	P04629	NTRK1_HUMAN	0			16	2231	+	A	A	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		Silent	725			Cytoplasmic (Potential).|Protein kinase.			
NTSR1	0	broad.mit.edu	GRCh37	20	61340986	61340986	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-6173-01	TCGA-26-6173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370501.3:c.427G>A	p.Gly143Ser	p.G143S	ENST00000370501	NM_002531.2	143	Ggc/Agc	0			1			A	G/S	uc002ydf.2	protein_coding	YES	CCDS13502.1			427/1257									skin(2)|lung(1)|central_nervous_system(1)	4	c.(427-429)GGC>AGC			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR01479,PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF9,Superfamily_domains:SSF81321	neurotensin receptor 1				ENSP00000359532		4-Jan									COSM3405262	4-Jan	.		ENST00000370501	Transcript				endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	ENSG00000101188	g.chr20:61340986G>A	8039			MODERATE		1.33	low	getma.org/?cm=msa&ty=f&p=NTR1_HUMAN&rb=80&re=364&var=G143S	getma.org/pdb.php?prot=NTR1_HUMAN&from=80&to=364&var=G143S	getma.org/?cm=var&var=hg19,20,61340986,G,A&fts=all	G143S	--	--	1																																			1	1		probably_damaging(0.99)	p.G143S	NM_002531	NP_002522		tolerated(0.07)	1	NTR1_HUMAN	NTSR1	HGNC	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)				1	798	+	Breast(26;3.65e-08)		UPI000013D6CF	143			Helical; Name=3; (Potential).		SNV	NTSR1,missense_variant,p.Gly143Ser,ENST00000370501,NM_002531.2;	uc002ydf.2	c.427G>A	798/4132	2	2			c.427G>A						20	SNP	c.(427-429)GGC>AGC	22	22			skin(2)|lung(1)|central_nervous_system(1)	4	Broad	neurotensin receptor 1			61340986		0.677	ENSG00000101188	10521	g.chr20:61340986G>A		endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	GBM(37;400 780 6403 19663 35669)		297	GBM(37;400 780 6403 19663 35669)		297	41.829639	KEEP	9	12	-1	35	34	9	12	-1	47.373237	35	34	0.225	1	0	0	0	0	1	0	0	0	--	--		0	A				187	GBM-26-6173-TP	p.G143S	G	CGGCTGCCGCGGCTACTACTT	NM_002531	NP_002522	61340986	P30989	NTR1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		1	798	+	A	A	Breast(26;3.65e-08)		Missense_Mutation	143			Helical; Name=3; (Potential).			
NTSR1	0	broad.mit.edu	GRCh37	20	61386135	61386135	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-2528-01	TCGA-27-2528-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370501.3:c.813C>T	p.Ala271=	p.A271=	ENST00000370501	NM_002531.2	271	gcC/gcT	0	T:0.0002		1			T	A	uc002ydf.2	protein_coding	YES	CCDS13502.1			813/1257									skin(2)|lung(1)|central_nervous_system(1)	4	c.(811-813)GCC>GCT			Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF9,Superfamily_domains:SSF81321	neurotensin receptor 1			T:0	ENSP00000359532		4-Feb	4.94E-05	0.000194		0.000116		1.51E-05		0.000121	rs377415240,COSM3405264	4-Feb	.		ENST00000370501	Transcript				endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	ENSG00000101188	g.chr20:61386135C>T	8039			LOW								--	--	1																																			0,1	1			p.A271A	NM_002531	NP_002522			0,1	NTR1_HUMAN	NTSR1	HGNC	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)				2	1184	+	Breast(26;3.65e-08)		UPI000013D6CF	271			Cytoplasmic (Potential).		SNV	NTSR1,synonymous_variant,p.=,ENST00000370501,NM_002531.2;NTSR1,upstream_gene_variant,,ENST00000482259,;	uc002ydf.2	c.813C>T	1184/4132	1	1			c.813C>T						20	SNP	c.(811-813)GCC>GCT	11	11			skin(2)|lung(1)|central_nervous_system(1)	4	Broad	neurotensin receptor 1			61386135		0.632	ENSG00000101188	10521	g.chr20:61386135C>T		endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	GBM(37;400 780 6403 19663 35669)		297	GBM(37;400 780 6403 19663 35669)		297	74.919719	KEEP	18	15	-1	38	60	18	15	-1	81.511418	38	60	0.25	1	0	0	0	0	0	0	1	0	--	--		0	T				205	GBM-27-2528-TP	p.A271A	C	GCCAGGCGGCCGAGCAGGGCC	NM_002531	NP_002522	61386135	P30989	NTR1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		2	1184	+	T	T	Breast(26;3.65e-08)		Silent	271			Cytoplasmic (Potential).			
NTSR1	0	broad.mit.edu	GRCh37	20	61340984	61340984	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4209-01	TCGA-32-4209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370501.3:c.425G>A	p.Arg142His	p.R142H	ENST00000370501	NM_002531.2	142	cGc/cAc	0			1			A	R/H	uc002ydf.2	protein_coding	YES	CCDS13502.1			425/1257									skin(2)|lung(1)|central_nervous_system(1)	4	c.(424-426)CGC>CAC			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR01479,PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF9,Superfamily_domains:SSF81321	neurotensin receptor 1				ENSP00000359532		4-Jan									COSM3405261	4-Jan	.		ENST00000370501	Transcript				endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	ENSG00000101188	g.chr20:61340984G>A	8039			MODERATE		2.03	medium	getma.org/?cm=msa&ty=f&p=NTR1_HUMAN&rb=80&re=364&var=R142H	getma.org/pdb.php?prot=NTR1_HUMAN&from=80&to=364&var=R142H	getma.org/?cm=var&var=hg19,20,61340984,G,A&fts=all	R142H	--	--	1																																			1	1		possibly_damaging(0.776)	p.R142H	NM_002531	NP_002522		deleterious(0.02)	1	NTR1_HUMAN	NTSR1	HGNC	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)				1	796	+	Breast(26;3.65e-08)		UPI000013D6CF	142			Extracellular (Potential).		SNV	NTSR1,missense_variant,p.Arg142His,ENST00000370501,NM_002531.2;	uc002ydf.2	c.425G>A	796/4132	2	2			c.425G>A						20	SNP	c.(424-426)CGC>CAC	46	46			skin(2)|lung(1)|central_nervous_system(1)	4	Broad	neurotensin receptor 1			61340984		0.677	ENSG00000101188	10521	g.chr20:61340984G>A		endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	GBM(37;400 780 6403 19663 35669)		297	GBM(37;400 780 6403 19663 35669)		297	19.75286	KEEP	20	26	-1	54	71	20	26	-1	27.564264	54	71	0.164384	1	0	0	0	0	1	0	0	0	--	--		0	A				244	GBM-32-4209-TP	p.R142H	G	GCCGGCTGCCGCGGCTACTAC	NM_002531	NP_002522	61340984	P30989	NTR1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		1	796	+	A	A	Breast(26;3.65e-08)		Missense_Mutation	142			Extracellular (Potential).			
NTSR1	0	broad.mit.edu	GRCh37	20	61341151	61341151	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-4929-01	TCGA-76-4929-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370501.3:c.592C>A	p.Leu198Met	p.L198M	ENST00000370501	NM_002531.2	198	Ctg/Atg	0			1			A	L/M	uc002ydf.2	protein_coding	YES	CCDS13502.1			592/1257									skin(2)|lung(1)|central_nervous_system(1)	4	c.(592-594)CTG>ATG			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF9,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	neurotensin receptor 1				ENSP00000359532		4-Jan									COSM3405263	4-Jan	.		ENST00000370501	Transcript				endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	ENSG00000101188	g.chr20:61341151C>A	8039			MODERATE		2.355	medium	getma.org/?cm=msa&ty=f&p=NTR1_HUMAN&rb=80&re=364&var=L198M	getma.org/pdb.php?prot=NTR1_HUMAN&from=80&to=364&var=L198M	getma.org/?cm=var&var=hg19,20,61341151,C,A&fts=all	L198M	--	--	1																																			1	1		probably_damaging(0.951)	p.L198M	NM_002531	NP_002522		tolerated(0.21)	1	NTR1_HUMAN	NTSR1	HGNC	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)				1	963	+	Breast(26;3.65e-08)		UPI000013D6CF	198			Helical; Name=4; (Potential).		SNV	NTSR1,missense_variant,p.Leu198Met,ENST00000370501,NM_002531.2;	uc002ydf.2	c.592C>A	963/4132	2	2			c.592C>A						20	SNP	c.(592-594)CTG>ATG	24	24			skin(2)|lung(1)|central_nervous_system(1)	4	Broad	neurotensin receptor 1			61341151		0.672	ENSG00000101188	10521	g.chr20:61341151C>A		endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	GBM(37;400 780 6403 19663 35669)		297	GBM(37;400 780 6403 19663 35669)		297	99.078536	KEEP	22	20	0.476190476	28	38	22	20	0.476190476	100.030435	28	38	0.391304	1	0	0	0	0	1	0	0	0	--	--		0	A				269	GBM-76-4929-TP	p.L198M	C	CGCCTCGGCCCTGCTGGCGGT	NM_002531	NP_002522	61341151	P30989	NTR1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		1	963	+	A	A	Breast(26;3.65e-08)		Missense_Mutation	198			Helical; Name=4; (Potential).			
NUAK2	0	broad.mit.edu	GRCh37	1	205280831	205280831	+	splice_donor_variant	Splice_Site	SNP	A	A	G			TCGA-19-2620-01	TCGA-19-2620-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367157.3:c.352+2T>C		p.X118_splice	ENST00000367157	NM_030952.1			0			1			G		uc001hce.2	protein_coding	YES	CCDS1453.1			352/1887									ovary(3)|stomach(1)|breast(1)	5	c.e2+1				NUAK family, SNF1-like kinase, 2				ENSP00000356125			3.29E-05	0.000192				3.00E-05			rs771895577,COSM3400230,COSM3400229		.		ENST00000367157	Transcript			actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	ENSG00000163545	g.chr1:205280831A>G	29558			HIGH	6-Feb							--	--	1																																		NUAK2_uc009xbj.1_5'Flank	0,1,1	1			p.V118_splice	NM_030952	NP_112214			0,1,1	NUAK2_HUMAN	NUAK2	HGNC	Q9H093	NUAK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		Q68E04_HUMAN,B4E0Y5_HUMAN		2	479	-	Breast(84;0.186)		UPI0000037D77						SNV	NUAK2,splice_donor_variant,,ENST00000367157,NM_030952.1;	uc001hce.2	c.352_splice	-/3405	5	3			c.352_splice						1	SNP	c.e2+1	13	13			ovary(3)|stomach(1)|breast(1)	5	Broad	NUAK family, SNF1-like kinase, 2			205280831		0.413	ENSG00000163545	10524	g.chr1:205280831A>G	actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			199			199	-7.767589	KEEP	2	2	-1	50	33	2	2	-1	10.24781	50	33	0.048193	1	0	0	0	0	0	0	0	1	--	--		0	G			NUAK2_uc009xbj.1_5'Flank	162	GBM-19-2620-TP	p.V118_splice	A	TGCCCACTGTACCTTCATGGA	NM_030952	NP_112214	205280831	Q9H093	NUAK2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(75;0.117)		2	479	-	G	G	Breast(84;0.186)		Splice_Site							
NUB1	0	broad.mit.edu	GRCh37	7	151065966	151065966	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01	TCGA-41-2572-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000568733.1:c.1313G>A	p.Arg438His	p.R438H	ENST00000568733		438	cGc/cAc	0			1			A	R/H	uc003wjx.2	protein_coding	YES	CCDS59089.1			1313/1920										0	c.(1312-1314)CGC>CAC			Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50030,hmmpanther:PTHR12948,Gene3D:1.10.8.10,Superfamily_domains:SSF46934	NEDD8 ultimate buster-1				ENSP00000454264		15-Nov									COSM3411821	15-Nov	.		ENST00000568733	Transcript			positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding	ENSG00000013374	g.chr7:151065966G>A	17623			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=NUB1_HUMAN&rb=412&re=489&var=R414H	NA	getma.org/?cm=var&var=hg19,7,151065966,G,A&fts=all	R414H	--	--	1																																		NUB1_uc003wjw.2_Missense_Mutation_p.R414H|NUB1_uc010lqc.2_RNA|uc003wjz.1_5'Flank	1	1		probably_damaging(0.993)	p.R438H	NM_016118	NP_057202		deleterious(0)	1		NUB1	HGNC	Q9Y5A7	NUB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)	H3BM74_HUMAN,C9JRT6_HUMAN,C9J7X7_HUMAN		11	1318	+			UPI00021CF908	414			Nuclear localization signal (Probable).		SNV	NUB1,missense_variant,p.Arg438His,ENST00000568733,;NUB1,missense_variant,p.Arg438His,ENST00000413040,;NUB1,missense_variant,p.Arg414His,ENST00000355851,NM_001243351.1;NUB1,missense_variant,p.Arg414His,ENST00000566856,NM_016118.4;NUB1,missense_variant,p.Arg50His,ENST00000460712,;NUB1,missense_variant,p.Arg18His,ENST00000480714,;NUB1,non_coding_transcript_exon_variant,,ENST00000497987,;NUB1,downstream_gene_variant,,ENST00000480907,;	uc003wjx.2	c.1313G>A	1379/3210	2	2			c.1313G>A						7	SNP	c.(1312-1314)CGC>CAC	24	24				0	Broad	NEDD8 ultimate buster-1			151065966		0.483	ENSG00000013374	10525	g.chr7:151065966G>A	positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding							-16.964699	KEEP	1	2	-1	56	54	1	2	-1	6.42662	56	54	0.030928	1	0	0	0	0	1	0	0	0	--	--		0	A			NUB1_uc003wjw.2_Missense_Mutation_p.R414H|NUB1_uc010lqc.2_RNA|uc003wjz.1_5'Flank	251	GBM-41-2572-TP	p.R438H	G	ATTACCAACCGCAGAGAGGTA	NM_016118	NP_057202	151065966	Q9Y5A7	NUB1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)	11	1318	+	A	A			Missense_Mutation	414			Nuclear localization signal (Probable).			
NUBP1	0	broad.mit.edu	GRCh37	16	10837884	10837884	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01	TCGA-12-0615-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283027.5:c.86G>A	p.Arg29Gln	p.R29Q	ENST00000283027	NM_002484.3	29	cGg/cAg	0		A:0	1	A:0		A	R/Q	uc002daa.1	protein_coding	YES	CCDS10543.1			86/963									ovary(1)|skin(1)	2	c.(85-87)CGG>CAG			HAMAP:MF_03038,hmmpanther:PTHR23264,hmmpanther:PTHR23264:SF19	nucleotide binding protein 1		A:0.001		ENSP00000283027	A:0	11-Feb	8.26E-06			0.000207					rs201425370,COSM1743945	11-Feb	.		ENST00000283027	Transcript		A:0.0002	cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding	ENSG00000103274	g.chr16:10837884G>A	8041			MODERATE		-0.465	neutral	getma.org/?cm=msa&ty=f&p=NUBP1_HUMAN&rb=1&re=164&var=R29Q	NA	getma.org/?cm=var&var=hg19,16,10837884,G,A&fts=all	R29Q	--	--	1																																		NUBP1_uc010bum.1_5'UTR|NUBP1_uc002dab.1_Missense_Mutation_p.R29Q	0,1	1		benign(0.001)	p.R29Q	NM_002484	NP_002475	A:0	tolerated(0.67)	0,1	NUBP1_HUMAN	NUBP1	HGNC	P53384	NUBP1_HUMAN					2	109	+			UPI000013DD15	29					SNV	NUBP1,missense_variant,p.Arg29Gln,ENST00000283027,NM_002484.3;NUBP1,missense_variant,p.Arg29Gln,ENST00000433392,NM_001278506.1;NUBP1,missense_variant,p.Arg29Gln,ENST00000574334,;NUBP1,non_coding_transcript_exon_variant,,ENST00000571790,;NUBP1,non_coding_transcript_exon_variant,,ENST00000574137,;	uc002daa.1	c.86G>A	105/1228	2	2			c.86G>A						16	SNP	c.(85-87)CGG>CAG	24	24			ovary(1)|skin(1)	2	Broad	nucleotide binding protein 1			10837884		0.657	ENSG00000103274	10526	g.chr16:10837884G>A	cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding							41.005009	KEEP	6	7	-1	8	3	6	7	-1	41.099055	8	3	0.571429	1	0	0	0	0	1	0	0	0	--	--		0	A			NUBP1_uc010bum.1_5'UTR|NUBP1_uc002dab.1_Missense_Mutation_p.R29Q	117	GBM-12-0615-TP	p.R29Q	G	CCCAACCAGCGGCTGTGCGCT	NM_002484	NP_002475	10837884	P53384	NUBP1_HUMAN	0			2	109	+	A	A			Missense_Mutation	29						
NUCB1	4924	broad.mit.edu	GRCh37	19	49414468	49414468	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0875-01	TCGA-06-0875-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000405315.4:c.439C>G	p.His147Asp	p.H147D	ENST00000405315	NM_006184.5	147	Cat/Gat	0			1			G	H/D	uc002plb.3	protein_coding	YES	CCDS12740.1			439/1386										0	c.(439-441)CAT>GAT			hmmpanther:PTHR19237:SF21,hmmpanther:PTHR19237	nucleobindin 1 precursor				ENSP00000385923		13-May									COSM3404435	13-May	.		ENST00000405315	Transcript				ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding	ENSG00000104805	g.chr19:49414468C>G	8043			MODERATE		1.72	low	getma.org/?cm=msa&ty=f&p=NUCB1_HUMAN&rb=1&re=200&var=H147D	NA	getma.org/?cm=var&var=hg19,19,49414468,C,G&fts=all	H147D	--	--	1																																		NUCB1_uc002pla.2_Missense_Mutation_p.H147D|NUCB1_uc002plc.2_Missense_Mutation_p.H147D	1	1		benign(0.284)	p.H147D	NM_006184	NP_006175		tolerated(0.22)	1	NUCB1_HUMAN	NUCB1	HGNC	Q02818	NUCB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)	Q96BA4_HUMAN,C9JBD3_HUMAN,C9J3C1_HUMAN,B4DZX0_HUMAN,B3KUR6_HUMAN		5	511	+		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	UPI0000161F57	147					SNV	NUCB1,missense_variant,p.His147Asp,ENST00000405315,NM_006184.5;NUCB1,missense_variant,p.His147Asp,ENST00000263273,;NUCB1,missense_variant,p.His147Asp,ENST00000407032,;NUCB1,missense_variant,p.His117Asp,ENST00000424608,;NUCB1,missense_variant,p.His147Asp,ENST00000452087,;NUCB1-AS1,intron_variant,,ENST00000416432,;NUCB1,intron_variant,,ENST00000485798,;NUCB1,upstream_gene_variant,,ENST00000465524,;	uc002plb.3	c.439C>G	773/2668	3	3			c.439C>G						19	SNP	c.(439-441)CAT>GAT	8	8				0	Broad	nucleobindin 1 precursor			49414468		0.552	ENSG00000104805	10529	g.chr19:49414468C>G		ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding							12.486929	KEEP	2	7	-1	21	26	2	7	-1	18.759121	21	26	0.14	1	0	0	0	0	1	0	0	0	--	--		0	G			NUCB1_uc002pla.2_Missense_Mutation_p.H147D|NUCB1_uc002plc.2_Missense_Mutation_p.H147D	71	GBM-06-0875-TP	p.H147D	C	TCAGAACCAGCATACATTCGA	NM_006184	NP_006175	49414468	Q02818	NUCB1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)	5	511	+	G	G		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	Missense_Mutation	147						
NUDCD1	84955		GRCh37	8	110308796	110308796	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000239690.4:c.276C>G	p.Asp92Glu	p.D92E	ENST00000239690	NM_032869.3	92	gaC/gaG	0																																																																																																																																																																																																																																												
NUDT11	55190	broad.mit.edu	GRCh37	X	51239120	51239120	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2561-01	TCGA-06-2561-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375992.3:c.177C>T	p.Gly59=	p.G59=	ENST00000375992	NM_018159.3	59	ggC/ggT	0			1			A	G	uc010njt.2	protein_coding	YES	CCDS43952.1			177/495										0	c.(175-177)GGC>GGT			Low_complexity_(Seg):seg,PROSITE_profiles:PS51462,hmmpanther:PTHR12629,hmmpanther:PTHR12629:SF3,PROSITE_patterns:PS00893,Gene3D:3.90.79.10,Pfam_domain:PF00293,Superfamily_domains:SSF55811	nudix-type motif 11				ENSP00000365160		2-Jan									COSM2152730	2-Jan	.		ENST00000375992	Transcript				cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	ENSG00000196368	g.chrX:51239120G>A	18011			LOW								--	--	1				HNSCC(48;0.14)																															1	1			p.G59G	NM_018159	NP_060629			1	NUD11_HUMAN	NUDT11	HGNC	Q96G61	NUD11_HUMAN					1	340	-	Ovarian(276;0.236)		UPI000007085D	59			Nudix box.|Nudix hydrolase.		SNV	NUDT11,synonymous_variant,p.=,ENST00000375992,NM_018159.3;	uc010njt.2	c.177C>T	329/2385	1	1			c.177C>T						23	SNP	c.(175-177)GGC>GGT	63	63				0	Broad	nudix-type motif 11			51239120		0.662	ENSG00000196368	10538	g.chrX:51239120G>A		cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	GBM(38;198 791 1498 11752 13599)		29	GBM(38;198 791 1498 11752 13599)		29	38.578509	KEEP	10	12	-1	14	8	10	12	-1	38.664429	14	8	0.565217	1	0	0	0	0	0	0	1	0	--	--	HNSCC(48;0.14)	0	A				84	GBM-06-2561-TP	p.G59G	G	CCGCCGCACCGCCCGGCTCCT	NM_018159	NP_060629	51239120	Q96G61	NUD11_HUMAN	0			1	340	-	A	A	Ovarian(276;0.236)		Silent	59			Nudix box.|Nudix hydrolase.			
NUDT12	0	broad.mit.edu	GRCh37	5	102891710	102891710	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6698-01	TCGA-06-6698-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000230792.2:c.886G>A	p.Gly296Ser	p.G296S	ENST00000230792	NM_031438.2	296	Ggt/Agt	0			1			T	G/S	uc003koi.2	protein_coding	YES	CCDS4096.1			886/1389										0	c.(886-888)GGT>AGT			hmmpanther:PTHR22769,hmmpanther:PTHR22769:SF7,Gene3D:3.90.79.10,Pfam_domain:PF09297,Superfamily_domains:SSF55811	nudix-type motif 12				ENSP00000230792		7-Apr									COSM3409652	7-Apr	.		ENST00000230792	Transcript				nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity	ENSG00000112874	g.chr5:102891710C>T	18826			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=NUD12_HUMAN&rb=279&re=308&var=G296S	NA	getma.org/?cm=var&var=hg19,5,102891710,C,T&fts=all	G296S	--	--	1																																		NUDT12_uc011cvb.1_Missense_Mutation_p.G278S	1	1		probably_damaging(0.973)	p.G296S	NM_031438	NP_113626		tolerated(0.08)	1	NUD12_HUMAN	NUDT12	HGNC	Q9BQG2	NUD12_HUMAN		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)			4	979	-		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)	UPI0000073C53	296					SNV	NUDT12,missense_variant,p.Gly296Ser,ENST00000230792,NM_031438.2;NUDT12,missense_variant,p.Gly278Ser,ENST00000507423,;NUDT12,non_coding_transcript_exon_variant,,ENST00000515407,;NUDT12,downstream_gene_variant,,ENST00000508889,;	uc003koi.2	c.886G>A	983/3492	2	2			c.886G>A						5	SNP	c.(886-888)GGT>AGT	48	48				0	Broad	nudix-type motif 12			102891710		0.393	ENSG00000112874	10539	g.chr5:102891710C>T		nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity							6.333704	KEEP	3	6	-1	37	48	3	6	-1	19.890908	37	48	0.096386	1	0	0	0	0	1	0	0	0	--	--		0	T			NUDT12_uc011cvb.1_Missense_Mutation_p.G278S	112	GBM-06-6698-TP	p.G296S	C	TTATAGCCACCTTCTTCAATT	NM_031438	NP_113626	102891710	Q9BQG2	NUD12_HUMAN	0		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)	4	979	-	T	T		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)	Missense_Mutation	296						
NUDT14	0	broad.mit.edu	GRCh37	14	105642875	105642875	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-12-5295-01	TCGA-12-5295-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392568.2:c.424T>A	p.Tyr142Asn	p.Y142N	ENST00000392568	NM_177533.4	142	Tac/Aac	0			1			T	Y/N	uc010tyn.1	protein_coding	YES	CCDS10000.1			424/669									skin(1)	1	c.(424-426)TAC>AAC			PROSITE_profiles:PS51462,hmmpanther:PTHR11839,Gene3D:3.90.79.10,TIGRFAM_domain:TIGR00052,Pfam_domain:PF00293,Superfamily_domains:SSF55811	nudix-type motif 14				ENSP00000376349		5-Apr									COSM3401175	5-Apr	.		ENST00000392568	Transcript				cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity	ENSG00000183828	g.chr14:105642875A>T	20141			MODERATE		2.915	medium	getma.org/?cm=msa&ty=f&p=NUD14_HUMAN&rb=39&re=205&var=Y142N	getma.org/pdb.php?prot=NUD14_HUMAN&from=39&to=205&var=Y142N	getma.org/?cm=var&var=hg19,14,105642875,A,T&fts=all	Y142N	--	--	1				HNSCC(42;0.11)																														NUDT14_uc001yqi.2_RNA	1	1		possibly_damaging(0.877)	p.Y142N	NM_177533	NP_803877		deleterious(0.01)	1	NUD14_HUMAN	NUDT14	HGNC	O95848	NUD14_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)			4	538	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	UPI000000D730	142			Nudix hydrolase.		SNV	NUDT14,missense_variant,p.Tyr142Asn,ENST00000392568,NM_177533.4;RP11-44N21.4,intron_variant,,ENST00000548203,;NUDT14,upstream_gene_variant,,ENST00000550912,;NUDT14,non_coding_transcript_exon_variant,,ENST00000551024,;NUDT14,non_coding_transcript_exon_variant,,ENST00000339418,;NUDT14,non_coding_transcript_exon_variant,,ENST00000550002,;NUDT14,downstream_gene_variant,,ENST00000546553,;	uc010tyn.1	c.424T>A	518/845	2	2			c.424T>A						14	SNP	c.(424-426)TAC>AAC	31	31			skin(1)	1	Broad	nudix-type motif 14			105642875		0.478	ENSG00000183828	10541	g.chr14:105642875A>T		cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity							60.696177	KEEP	13	11	-1	14	15	13	11	-1	60.816708	14	15	0.444444	1	0	0	0	0	1	0	0	0	--	--	HNSCC(42;0.11)	0	T			NUDT14_uc001yqi.2_RNA	129	GBM-12-5295-TP	p.Y142N	A	ACTCACCAGTATGTGGCGACC	NM_177533	NP_803877	105642875	O95848	NUD14_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	4	538	-	T	T		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	Missense_Mutation	142			Nudix hydrolase.			
NUDT2	0	broad.mit.edu	GRCh37	9	34343182	34343182	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000346365.4:c.188C>T	p.Ala63Val	p.A63V	ENST00000346365	NM_147173.2	63	gCa/gTa	0			1			T	A/V	uc003zub.2	protein_coding		CCDS6552.1			188/444										0	c.(187-189)GCA>GTA			Superfamily_domains:SSF55811,Pfam_domain:PF00293,Gene3D:3.90.79.10,PROSITE_patterns:PS00893,hmmpanther:PTHR21340,hmmpanther:PTHR21340:SF0,PROSITE_profiles:PS51462	nudix-type motif 2				ENSP00000344187		4-Apr									COSM3413619	4-Apr	.		ENST00000346365	Transcript			induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding	ENSG00000164978	g.chr9:34343182C>T	8049			MODERATE		1.225	low	getma.org/?cm=msa&ty=f&p=AP4A_HUMAN&rb=2&re=137&var=A63V	getma.org/pdb.php?prot=AP4A_HUMAN&from=2&to=137&var=A63V	getma.org/?cm=var&var=hg19,9,34343182,C,T&fts=all	A63V	--	--	1																																		NUDT2_uc003zuc.2_Missense_Mutation_p.A63V|NUDT2_uc003zud.2_Missense_Mutation_p.A63V	1			possibly_damaging(0.8)	p.A63V	NM_001161	NP_001152		deleterious(0)	1	AP4A_HUMAN	NUDT2	HGNC	P50583	AP4A_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)			5	546	+			UPI000013E431	63			Nudix box.|Nudix hydrolase.		SNV	NUDT2,missense_variant,p.Ala63Val,ENST00000379158,NM_001161.4;NUDT2,missense_variant,p.Ala63Val,ENST00000379155,NM_147172.2;NUDT2,missense_variant,p.Ala63Val,ENST00000346365,NM_147173.2;	uc003zub.2	c.188C>T	433/960	2	2			c.188C>T						9	SNP	c.(187-189)GCA>GTA	43	43				0	Broad	nudix-type motif 2			34343182		0.493	ENSG00000164978	10548	g.chr9:34343182C>T	induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding	Melanoma(95;1683 1957 4276 39813)			Melanoma(95;1683 1957 4276 39813)			335.861574	KEEP	64	69	-1	103	127	64	69	-1	340.705266	103	127	0.372024	1	0	0	0	0	1	0	0	0	--	--		0	T			NUDT2_uc003zuc.2_Missense_Mutation_p.A63V|NUDT2_uc003zud.2_Missense_Mutation_p.A63V	269	GBM-76-4929-TP	p.A63V	C	CAAGAGGAAGCAGGCATAGAA	NM_001161	NP_001152	34343182	P50583	AP4A_HUMAN	0	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	5	546	+	T	T			Missense_Mutation	63			Nudix box.|Nudix hydrolase.			
NUDT21	0	broad.mit.edu	GRCh37	16	56473612	56473612	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-4210-01	TCGA-32-4210-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300291.5:c.428A>G	p.Asp143Gly	p.D143G	ENST00000300291	NM_007006.2	143	gAt/gGt	0			1			C	D/G	uc002eja.2	protein_coding	YES	CCDS10760.1			428/684										0	c.(427-429)GAT>GGT			PROSITE_profiles:PS51462,hmmpanther:PTHR13047,Pfam_domain:PF13869,PIRSF_domain:PIRSF017888	cleavage and polyadenylation specific factor 5				ENSP00000300291		7-Apr									COSM3402372	7-Apr	.		ENST00000300291	Transcript			mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity	ENSG00000167005	g.chr16:56473612T>C	13870			MODERATE		2.83	medium	getma.org/?cm=msa&ty=f&p=CPSF5_HUMAN&rb=35&re=222&var=D143G	getma.org/pdb.php?prot=CPSF5_HUMAN&from=35&to=222&var=D143G	getma.org/?cm=var&var=hg19,16,56473612,T,C&fts=all	D143G	--	--	1																																		NUDT21_uc002eiz.2_Missense_Mutation_p.D68G	1	1		probably_damaging(0.998)	p.D143G	NM_007006	NP_008937		deleterious(0)	1	CPSF5_HUMAN	NUDT21	HGNC	O43809	CPSF5_HUMAN			H3BV41_HUMAN,H3BND3_HUMAN		4	575	-			UPI0000073E79	143			Nudix hydrolase.|Necessary for interactions with PAPOLA and PABPN1.|Necessary for RNA-binding.		SNV	NUDT21,missense_variant,p.Asp143Gly,ENST00000300291,NM_007006.2;NUDT21,missense_variant,p.Asp77Gly,ENST00000566340,;NUDT21,downstream_gene_variant,,ENST00000568822,;NUDT21,non_coding_transcript_exon_variant,,ENST00000563362,;NUDT21,upstream_gene_variant,,ENST00000563860,;	uc002eja.2	c.428A>G	601/4436	4	4			c.428A>G						16	SNP	c.(427-429)GAT>GGT	44	44				0	Broad	cleavage and polyadenylation specific factor 5			56473612		0.408	ENSG00000167005	10549	g.chr16:56473612T>C	mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity							1234.078686	KEEP	170	200	-1	80	98	170	200	-1	1248.806502	80	98	0.688985	1	0	0	0	0	1	0	0	0	--	--		0	C			NUDT21_uc002eiz.2_Missense_Mutation_p.D68G	245	GBM-32-4210-TP	p.D143G	T	ACCAATGCAATCGTCAATGAC	NM_007006	NP_008937	56473612	O43809	CPSF5_HUMAN	0			4	575	-	C	C			Missense_Mutation	143			Nudix hydrolase.|Necessary for interactions with PAPOLA and PABPN1.|Necessary for RNA-binding.			
NUDT4	0	broad.mit.edu	GRCh37	12	93792556	93792556	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000415493.2:c.265C>T	p.Arg89Ter	p.R89*	ENST00000415493	NM_019094.4	89	Cga/Tga	0			1			T	R/*	uc001tcm.2	protein_coding		CCDS44952.1			265/543										0	c.(265-267)CGA>TGA			Gene3D:3.90.79.10,Pfam_domain:PF00293,PROSITE_profiles:PS51462,hmmpanther:PTHR12629,hmmpanther:PTHR12629:SF6,Superfamily_domains:SSF55811	nudix-type motif 4 isoform alpha				ENSP00000406612		5-Apr	8.24E-06			0.000116					rs759131526,COSM3399182	5-Apr	.		ENST00000415493	Transcript			calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	ENSG00000173598	g.chr12:93792556C>T	8051			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,12,93792556,C,T&fts=all	R89*	--	--	1																																		NUDT4_uc010sup.1_Nonsense_Mutation_p.R89*|NUDT4_uc001tcn.2_Nonsense_Mutation_p.R37*|NUDT4_uc010suq.1_Nonsense_Mutation_p.R38*|NUDT4_uc001tco.2_Nonsense_Mutation_p.R37*	0,1				p.R89*	NM_019094	NP_061967			0,1	NUDT4_HUMAN	NUDT4	HGNC	Q9NZJ9	NUDT4_HUMAN			F8VRR0_HUMAN,F8VRL4_HUMAN		4	663	+			UPI0000073E88	89			Substrate binding (By similarity).|Nudix hydrolase.		SNV	NUDT4,stop_gained,p.Arg90Ter,ENST00000337179,NM_199040.2;NUDT4,stop_gained,p.Arg89Ter,ENST00000415493,NM_019094.4;NUDT4,stop_gained,p.Arg37Ter,ENST00000549992,;NUDT4,stop_gained,p.Arg38Ter,ENST00000547014,;NUDT4,stop_gained,p.Arg37Ter,ENST00000548662,;NUDT4,stop_gained,p.Arg37Ter,ENST00000546925,;NUDT4,stop_gained,p.Arg37Ter,ENST00000550056,;	uc001tcm.2	c.265C>T	692/4839	5	1			c.265C>T						12	SNP	c.(265-267)CGA>TGA	11	11				0	Broad	nudix-type motif 4 isoform alpha			93792556		0.343	ENSG00000173598	10552	g.chr12:93792556C>T	calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding							-34.220159	KEEP	1	3	-1	97	88	1	3	-1	7.81784	97	88	0.023952	1	0	0	0	0	0	1	0	0	--	--		0	T			NUDT4_uc010sup.1_Nonsense_Mutation_p.R89*|NUDT4_uc001tcn.2_Nonsense_Mutation_p.R37*|NUDT4_uc010suq.1_Nonsense_Mutation_p.R38*|NUDT4_uc001tco.2_Nonsense_Mutation_p.R37*	218	GBM-28-5209-TP	p.R89*	C	GAACCAAGACCGAAAGCACAG	NM_019094	NP_061967	93792556	Q9NZJ9	NUDT4_HUMAN	0			4	663	+	T	T			Nonsense_Mutation	89			Substrate binding (By similarity).|Nudix hydrolase.			
NUDT9	53343	broad.mit.edu	GRCh37	4	88362984	88362984	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0644-01	TCGA-06-0644-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302174.4:c.447T>C	p.Asn149=	p.N149=	ENST00000302174	NM_024047.4	149	aaT/aaC	0			1			C	N	uc003hqq.2	protein_coding	YES	CCDS3620.1			447/1053										0	c.(445-447)AAT>AAC			hmmpanther:PTHR13030,Superfamily_domains:SSF55811	nudix-type motif 9 isoform a				ENSP00000303575		8-Apr									COSM3409602	8-Apr	.		ENST00000302174	Transcript				mitochondrion	ADP-ribose diphosphatase activity	ENSG00000170502	g.chr4:88362984T>C	8056			LOW								--	--	1																																		NUDT9_uc003hqr.2_Silent_p.N99N|NUDT9_uc010ikl.2_Silent_p.N117N	1	1			p.N149N	NM_024047	NP_076952			1	NUDT9_HUMAN	NUDT9	HGNC	Q9BW91	NUDT9_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000937)	D6RAW2_HUMAN		4	770	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	UPI0000034755	149					SNV	NUDT9,synonymous_variant,p.=,ENST00000473942,NM_198038.2;NUDT9,synonymous_variant,p.=,ENST00000302174,NM_024047.4;NUDT9,synonymous_variant,p.=,ENST00000440591,;NUDT9,synonymous_variant,p.=,ENST00000512216,;NUDT9,upstream_gene_variant,,ENST00000515371,;NUDT9,synonymous_variant,p.=,ENST00000502933,;	uc003hqq.2	c.447T>C	771/1701	3	3			c.447T>C						4	SNP	c.(445-447)AAT>AAC	6	6				0	Broad	nudix-type motif 9 isoform a			88362984		0.418	ENSG00000170502	10557	g.chr4:88362984T>C		mitochondrion	ADP-ribose diphosphatase activity							23.05169	KEEP	4	5	-1	25	21	4	5	-1	27.227397	25	21	0.191489	1	0	0	0	0	0	0	1	0	--	--		0	C			NUDT9_uc003hqr.2_Silent_p.N99N|NUDT9_uc010ikl.2_Silent_p.N117N	58	GBM-06-0644-TP	p.N149N	T	TTTCCAGAAATCCTGCAGGAC	NM_024047	NP_076952	88362984	Q9BW91	NUDT9_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;0.000937)	4	770	+	C	C		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	Silent	149						
NUF2	0	broad.mit.edu	GRCh37	1	163306614	163306614	+	synonymous_variant	Silent	SNP	G	G	A	rs148215962		TCGA-19-5955-01	TCGA-19-5955-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271452.3:c.411G>A	p.Thr137=	p.T137=	ENST00000271452	NM_145697.2	137	acG/acA	0	A:0.0002	A:0	1	A:0.0014		A	T	uc001gcq.1	protein_coding	YES	CCDS1245.1			411/1395									ovary(3)|skin(1)	4	c.(409-411)ACG>ACA			Pfam_domain:PF03800,hmmpanther:PTHR21650,hmmpanther:PTHR21650:SF2	NUF2, NDC80 kinetochore complex component		A:0	A:0.0003	ENSP00000271452	A:0	14-Jun	0.000264	9.67E-05	0.000175	0.000116		0.000422			rs148215962,COSM2156805,COSM2156806	14-Jun	common_variant		ENST00000271452	Transcript		A:0.0002	cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	ENSG00000143228	g.chr1:163306614G>A	14621			LOW								--	--	1																																		NUF2_uc001gcp.2_Silent_p.T137T|NUF2_uc001gcr.1_Silent_p.T137T|NUF2_uc009wvc.1_Silent_p.T137T	0,1,1	1			p.T137T	NM_145697	NP_663735	A:0		0,1,1	NUF2_HUMAN	NUF2	HGNC	Q9BZD4	NUF2_HUMAN			E9PKH1_HUMAN,B1AQT4_HUMAN,B1AQT3_HUMAN		6	711	+	all_hematologic(923;0.101)		UPI000006D211	137			Interaction with the N-terminus of NDC80.		SNV	NUF2,synonymous_variant,p.=,ENST00000271452,NM_145697.2;NUF2,synonymous_variant,p.=,ENST00000524800,;NUF2,synonymous_variant,p.=,ENST00000367900,NM_031423.3;NUF2,synonymous_variant,p.=,ENST00000442820,;NUF2,synonymous_variant,p.=,ENST00000450453,;NUF2,downstream_gene_variant,,ENST00000534289,;NUF2,non_coding_transcript_exon_variant,,ENST00000490881,;NUF2,synonymous_variant,p.=,ENST00000497990,;NUF2,upstream_gene_variant,,ENST00000527439,;NUF2,upstream_gene_variant,,ENST00000527120,;NUF2,upstream_gene_variant,,ENST00000531529,;	uc001gcq.1	c.411G>A	690/1969	2	2			c.411G>A						1	SNP	c.(409-411)ACG>ACA	32	32			ovary(3)|skin(1)	4	Broad	NUF2, NDC80 kinetochore complex component			163306614		0.313	ENSG00000143228	10558	g.chr1:163306614G>A	cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding							41.500094	KEEP	15	7	-1	47	40	15	7	-1	48.031326	47	40	0.211765	1	0	0	0	0	0	0	1	0	--	--		0	A			NUF2_uc001gcp.2_Silent_p.T137T|NUF2_uc001gcr.1_Silent_p.T137T|NUF2_uc009wvc.1_Silent_p.T137T	175	GBM-19-5955-TP	p.T137T	G	GCCGTGAAACGTATATGGAAT	NM_145697	NP_663735	163306614	Q9BZD4	NUF2_HUMAN	0			6	711	+	A	A	all_hematologic(923;0.101)		Silent	137			Interaction with the N-terminus of NDC80.			
NUF2	83540		GRCh37	1	163315530	163315530	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000271452.3:c.870G>T	p.Gln290His	p.Q290H	ENST00000271452	NM_145697.2	290	caG/caT	0																																																																																																																																																																																																																																												
NUFIP1	26747	broad.mit.edu	GRCh37	13	45554922	45554922	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01	TCGA-06-0219-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379161.4:c.529G>A	p.Asp177Asn	p.D177N	ENST00000379161	NM_012345.2	177	Gat/Aat	0			1			T	D/N	uc001uzp.2	protein_coding	YES	CCDS9393.1			529/1488										0	c.(529-531)GAT>AAT			PROSITE_profiles:PS50157,hmmpanther:PTHR13309,PROSITE_patterns:PS00028,Pfam_domain:PF12171,SMART_domains:SM00355	nuclear fragile X mental retardation protein				ENSP00000368459		10-Mar									COSM2150948	10-Mar	.		ENST00000379161	Transcript			box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding	ENSG00000083635	g.chr13:45554922C>T	8057			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=NUFP1_HUMAN&rb=153&re=217&var=D177N	NA	getma.org/?cm=var&var=hg19,13,45554922,C,T&fts=all	D177N	--	--	1																																			1	1		probably_damaging(1)	p.D177N	NM_012345	NP_036477		deleterious(0)	1	NUFP1_HUMAN	NUFIP1	HGNC	Q9UHK0	NUFP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)			3	571	-		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	UPI000013C768	177			C2H2-type.		SNV	NUFIP1,missense_variant,p.Asp177Asn,ENST00000379161,NM_012345.2;RP11-321C24.1,downstream_gene_variant,,ENST00000437748,;	uc001uzp.2	c.529G>A	576/3492	2	2			c.529G>A						13	SNP	c.(529-531)GAT>AAT	35	35				0	Broad	nuclear fragile X mental retardation protein			45554922		0.313	ENSG00000083635	10559	g.chr13:45554922C>T	box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding							114.506018	KEEP	25	19	-1	27	36	25	19	-1	114.971565	27	36	0.423913	1	0	0	0	0	1	0	0	0	--	--		0	T				52	GBM-06-0219-TP	p.D177N	C	TCACAGGTATCACAAAAAAAG	NM_012345	NP_036477	45554922	Q9UHK0	NUFP1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)	3	571	-	T	T		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	Missense_Mutation	177			C2H2-type.			
NUFIP2	57532	broad.mit.edu	GRCh37	17	27620990	27620992	+	inframe_deletion	In_Frame_Del	DEL	GCT	GCT	-			TCGA-06-5856-01	TCGA-06-5856-01	GCT	GCT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000225388.4:c.86_88del	p.Gln29del	p.Q29del	ENST00000225388	NM_020772.2	29	cAGCcg/ccg	0			1			-	QP/P	uc002hdy.3	protein_coding	YES	CCDS32600.1			86-88/2088									skin(2)|ovary(1)|breast(1)	4	c.(85-90)CAGCCG>CCG			Low_complexity_(Seg):seg	nuclear fragile X mental retardation protein				ENSP00000225388		4-Jan									rs779422167	4-Jan	.		ENST00000225388	Transcript				nucleus|polysomal ribosome	protein binding|RNA binding	ENSG00000108256	g.chr17:27620990_27620992delGCT	17634			MODERATE								--	--	1																																		NUFIP2_uc002hdx.3_In_Frame_Del_p.Q29del		1			p.Q29del	NM_020772	NP_065823				NUFP2_HUMAN	NUFIP2	HGNC	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		A1L3A7_HUMAN		1	175_177	-			UPI00001B078D	29			His-rich.		deletion	NUFIP2,inframe_deletion,p.Gln29del,ENST00000225388,NM_020772.2;NUFIP2,inframe_deletion,p.Gln29del,ENST00000579665,;	uc002hdy.3	c.86_88delAGC	145-147/10850	5	5			c.86_88delAGC						17	DEL	c.(85-90)CAGCCG>CCG	11	11			skin(2)|ovary(1)|breast(1)	4	Broad	nuclear fragile X mental retardation protein			27620992		0.251	ENSG00000108256	10560	g.chr17:27620990_27620992delGCT		nucleus|polysomal ribosome	protein binding|RNA binding																				0.03	1	1	0	1	0	0	0	0	0	--	--		0	-			NUFIP2_uc002hdx.3_In_Frame_Del_p.Q29del	101	GBM-06-5856-TP	p.Q29del	GCT	tggtggtgcggctgctgctgctg	NM_020772	NP_065823	27620990	Q7Z417	NUFP2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		1	175_177	-	-	-			In_Frame_Del	29			His-rich.			
NUFIP2	0	broad.mit.edu	GRCh37	17	27620990	27620992	+	inframe_deletion	In_Frame_Del	DEL	GCT	GCT	-			TCGA-19-5960-01	TCGA-19-5960-01	GCT	GCT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000225388.4:c.86_88delAGC	p.Gln29del	p.Q29del	ENST00000225388	NM_020772.2	29	cAGCcg/ccg	0			1			-	QP/P	uc002hdy.3	protein_coding	YES	CCDS32600.1			86-88/2088									skin(2)|ovary(1)|breast(1)	4	c.(85-90)CAGCCG>CCG			Low_complexity_(Seg):seg	nuclear fragile X mental retardation protein				ENSP00000225388		4-Jan									rs779422167	4-Jan	.		ENST00000225388	Transcript				nucleus|polysomal ribosome	protein binding|RNA binding	ENSG00000108256	g.chr17:27620990_27620992delGCT	17634			MODERATE								--	--	1																																		NUFIP2_uc002hdx.3_In_Frame_Del_p.Q29del		1			p.Q29del	NM_020772	NP_065823				NUFP2_HUMAN	NUFIP2	HGNC	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		A1L3A7_HUMAN		1	175_177	-			UPI00001B078D	29			His-rich.		deletion	NUFIP2,inframe_deletion,p.Gln29del,ENST00000225388,NM_020772.2;NUFIP2,inframe_deletion,p.Gln29del,ENST00000579665,;	uc002hdy.3	c.86_88delAGC	145-147/10850	5	5			c.86_88delAGC						17	DEL	c.(85-90)CAGCCG>CCG	11	11			skin(2)|ovary(1)|breast(1)	4	Broad	nuclear fragile X mental retardation protein			27620992		0.251	ENSG00000108256	10560	g.chr17:27620990_27620992delGCT		nucleus|polysomal ribosome	protein binding|RNA binding																				0.07	1	1	0	1	0	0	0	0	0	--	--		0	-			NUFIP2_uc002hdx.3_In_Frame_Del_p.Q29del	178	GBM-19-5960-TP	p.Q29del	GCT	tggtggtgcggctgctgctgctg	NM_020772	NP_065823	27620990	Q7Z417	NUFP2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		1	175_177	-	-	-			In_Frame_Del	29			His-rich.			
NUFIP2	57532		GRCh37	17	27613998	27613998	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000225388.4:c.1014A>G	p.Lys338=	p.K338=	ENST00000225388	NM_020772.2	338	aaA/aaG	0																																																																																																																																																																																																																																												
NUMA1	4926	broad.mit.edu	GRCh37	11	71717271	71717271	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0216-01	TCGA-06-0216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393695.3:c.5502G>A	p.Ser1834=	p.S1834=	ENST00000393695	NM_006185.2	1834	tcG/tcA	0			1			T	S	uc001orl.1	protein_coding	YES	CCDS31633.1			5502/6348	T		RARA		APL				ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8	c.(5500-5502)TCG>TCA			hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF24	nuclear mitotic apparatus protein 1				ENSP00000377298		22/27	8.24E-06					1.50E-05			rs763350835,COSM2150926	22/27	.		ENST00000393695	Transcript	1		G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	ENSG00000137497	g.chr11:71717271C>T	8059			LOW								--	--	1																																		NUMA1_uc001orj.2_Silent_p.S16S|NUMA1_uc009ysw.1_Silent_p.S1401S|NUMA1_uc001ork.1_Silent_p.S698S|NUMA1_uc001orm.1_Silent_p.S1820S	0,1	1			p.S1834S	NM_006185	NP_006176			0,1	NUMA1_HUMAN	NUMA1	HGNC	Q14980	NUMA1_HUMAN			Q9UPG3_HUMAN,Q9UNL7_HUMAN,Q86XH4_HUMAN,Q4LE64_HUMAN,G1UI36_HUMAN,F8W6T3_HUMAN,F5H7R5_HUMAN,F5H763_HUMAN,F5H6Y5_HUMAN,F5H4Y4_HUMAN,F5H4J1_HUMAN,F5H3L6_HUMAN,F5H2F3_HUMAN,F5H1L0_HUMAN,F5H0Z7_HUMAN,F5H073_HUMAN,F5H068_HUMAN,F5GZW1_HUMAN,F5GWK2_HUMAN,F5GWA2_HUMAN		22	5674	-			UPI000013DB8B	1834					SNV	NUMA1,synonymous_variant,p.=,ENST00000393695,NM_006185.2;NUMA1,synonymous_variant,p.=,ENST00000358965,NM_001286561.1;NUMA1,synonymous_variant,p.=,ENST00000351960,;NUMA1,synonymous_variant,p.=,ENST00000541584,;IL18BP,downstream_gene_variant,,ENST00000497194,;IL18BP,downstream_gene_variant,,ENST00000404792,NM_173042.2,NM_005699.3;IL18BP,downstream_gene_variant,,ENST00000393703,NM_001039660.1;IL18BP,downstream_gene_variant,,ENST00000337131,;IL18BP,downstream_gene_variant,,ENST00000393705,NM_001039659.1;IL18BP,downstream_gene_variant,,ENST00000260049,NM_001145057.1;IL18BP,downstream_gene_variant,,ENST00000393707,NM_001145055.1;IL18BP,downstream_gene_variant,,ENST00000531053,;NUMA1,non_coding_transcript_exon_variant,,ENST00000541262,;NUMA1,3_prime_UTR_variant,,ENST00000545721,;NUMA1,non_coding_transcript_exon_variant,,ENST00000540626,;IL18BP,downstream_gene_variant,,ENST00000343898,NM_173044.2;IL18BP,downstream_gene_variant,,ENST00000534583,;NUMA1,downstream_gene_variant,,ENST00000546036,;	uc001orl.1	c.5502G>A	5834/7343	2	2			c.5502G>A	T		RARA		APL	11	SNP	c.(5500-5502)TCG>TCA	20	20			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8	Broad	nuclear mitotic apparatus protein 1			71717271		0.552	ENSG00000137497	10561	g.chr11:71717271C>T	G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			525			525	94.592286	KEEP	11	22	-1	31	14	11	22	-1	95.069521	31	14	0.415584	1	0	0	0	0	0	0	1	0	--	--		0	T			NUMA1_uc001orj.2_Silent_p.S16S|NUMA1_uc009ysw.1_Silent_p.S1401S|NUMA1_uc001ork.1_Silent_p.S698S|NUMA1_uc001orm.1_Silent_p.S1820S	51	GBM-06-0216-TP	p.S1834S	C	TGCTGTAGAACGATGAGTTGG	NM_006185	NP_006176	71717271	Q14980	NUMA1_HUMAN	0			22	5674	-	T	T			Silent	1834						
NUMA1	4926	broad.mit.edu	GRCh37	11	71729889	71729889	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01	TCGA-06-2565-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393695.3:c.722G>A	p.Arg241His	p.R241H	ENST00000393695	NM_006185.2	241	cGc/cAc	0			1			T	R/H	uc001orl.1	protein_coding	YES	CCDS31633.1			722/6348	T		RARA		APL				ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8	c.(721-723)CGC>CAC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF24	nuclear mitotic apparatus protein 1				ENSP00000377298		27-Oct	8.24E-06	9.71E-05							rs763169605,COSM1475873	27-Oct	.		ENST00000393695	Transcript	1		G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	ENSG00000137497	g.chr11:71729889C>T	8059			MODERATE		0.205	neutral	getma.org/?cm=msa&ty=f&p=NUMA1_HUMAN&rb=201&re=280&var=R241H	NA	getma.org/?cm=var&var=hg19,11,71729889,C,T&fts=all	R241H	--	--	1																																		NUMA1_uc009ysw.1_5'Flank|NUMA1_uc001ork.1_Missense_Mutation_p.R241H|NUMA1_uc001orm.1_Missense_Mutation_p.R241H|NUMA1_uc001orn.2_5'Flank|NUMA1_uc009ysx.1_Missense_Mutation_p.R241H|NUMA1_uc001oro.1_Missense_Mutation_p.R241H|NUMA1_uc009ysy.1_Missense_Mutation_p.R241H|NUMA1_uc001orp.2_Missense_Mutation_p.R241H|NUMA1_uc001orq.2_Missense_Mutation_p.R241H	0,1	1		benign(0.043)	p.R241H	NM_006185	NP_006176			0,1	NUMA1_HUMAN	NUMA1	HGNC	Q14980	NUMA1_HUMAN			Q9UPG3_HUMAN,Q9UNL7_HUMAN,Q86XH4_HUMAN,Q4LE64_HUMAN,G1UI36_HUMAN,F8W6T3_HUMAN,F5H7R5_HUMAN,F5H763_HUMAN,F5H6Y5_HUMAN,F5H4Y4_HUMAN,F5H4J1_HUMAN,F5H3L6_HUMAN,F5H2F3_HUMAN,F5H1L0_HUMAN,F5H0Z7_HUMAN,F5H073_HUMAN,F5H068_HUMAN,F5GZW1_HUMAN,F5GWK2_HUMAN,F5GWA2_HUMAN		10	894	-			UPI000013DB8B	241			Potential.		SNV	NUMA1,missense_variant,p.Arg241His,ENST00000393695,NM_006185.2;NUMA1,missense_variant,p.Arg241His,ENST00000358965,NM_001286561.1;NUMA1,missense_variant,p.Arg241His,ENST00000351960,;NUMA1,missense_variant,p.Arg241His,ENST00000542977,;NUMA1,missense_variant,p.Arg241His,ENST00000537217,;NUMA1,upstream_gene_variant,,ENST00000541584,;NUMA1,downstream_gene_variant,,ENST00000543937,;NUMA1,downstream_gene_variant,,ENST00000543009,;NUMA1,downstream_gene_variant,,ENST00000544238,;NUMA1,downstream_gene_variant,,ENST00000535087,;NUMA1,downstream_gene_variant,,ENST00000544129,;NUMA1,downstream_gene_variant,,ENST00000541641,;NUMA1,downstream_gene_variant,,ENST00000541719,;NUMA1,downstream_gene_variant,,ENST00000368959,;NUMA1,downstream_gene_variant,,ENST00000537930,;NUMA1,downstream_gene_variant,,ENST00000535947,;NUMA1,downstream_gene_variant,,ENST00000366394,;RP11-849H4.4,intron_variant,,ENST00000502284,;NUMA1,non_coding_transcript_exon_variant,,ENST00000534987,;NUMA1,non_coding_transcript_exon_variant,,ENST00000540843,;NUMA1,non_coding_transcript_exon_variant,,ENST00000536119,;NUMA1,downstream_gene_variant,,ENST00000534971,;	uc001orl.1	c.722G>A	1054/7343	2	2			c.722G>A	T		RARA		APL	11	SNP	c.(721-723)CGC>CAC	30	30			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8	Broad	nuclear mitotic apparatus protein 1			71729889		0.562	ENSG00000137497	10561	g.chr11:71729889C>T	G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			525			525	-44.772524	KEEP	0	4	-1	101	110	0	4	-1	7.484184	101	110	0.019802	1	0	0	0	0	1	0	0	0	--	--		0	T			NUMA1_uc009ysw.1_5'Flank|NUMA1_uc001ork.1_Missense_Mutation_p.R241H|NUMA1_uc001orm.1_Missense_Mutation_p.R241H|NUMA1_uc001orn.2_5'Flank|NUMA1_uc009ysx.1_Missense_Mutation_p.R241H|NUMA1_uc001oro.1_Missense_Mutation_p.R241H|NUMA1_uc009ysy.1_Missense_Mutation_p.R241H|NUMA1_uc001orp.2_Missense_Mutation_p.R241H|NUMA1_uc001orq.2_Missense_Mutation_p.R241H	88	GBM-06-2565-TP	p.R241H	C	GAGGAGCTTGCGGTTCTCAGC	NM_006185	NP_006176	71729889	Q14980	NUMA1_HUMAN	0			10	894	-	T	T			Missense_Mutation	241			Potential.			
NUMA1	0	broad.mit.edu	GRCh37	11	71717105	71717105	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1825-01	TCGA-14-1825-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393695.3:c.5668G>A	p.Gly1890Arg	p.G1890R	ENST00000393695	NM_006185.2	1890	Ggg/Agg	0			1			T	G/R	uc001orl.1	protein_coding	YES	CCDS31633.1			5668/6348	T		RARA		APL				ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8	c.(5668-5670)GGG>AGG			hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF24	nuclear mitotic apparatus protein 1				ENSP00000377298		22/27	1.65E-05				0.000151			6.25E-05	rs767774866,COSM3398115	22/27	.		ENST00000393695	Transcript	1		G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	ENSG00000137497	g.chr11:71717105C>T	8059			MODERATE		-0.205	neutral	getma.org/?cm=msa&ty=f&p=NUMA1_HUMAN&rb=1686&re=2113&var=G1890R	NA	getma.org/?cm=var&var=hg19,11,71717105,C,T&fts=all	G1890R	--	--	1																																		NUMA1_uc001orj.2_Missense_Mutation_p.G72R|NUMA1_uc009ysw.1_Missense_Mutation_p.G1457R|NUMA1_uc001ork.1_Missense_Mutation_p.G754R|NUMA1_uc001orm.1_Missense_Mutation_p.G1876R	0,1	1		benign(0.03)	p.G1890R	NM_006185	NP_006176			0,1	NUMA1_HUMAN	NUMA1	HGNC	Q14980	NUMA1_HUMAN			Q9UPG3_HUMAN,Q9UNL7_HUMAN,Q86XH4_HUMAN,Q4LE64_HUMAN,G1UI36_HUMAN,F8W6T3_HUMAN,F5H7R5_HUMAN,F5H763_HUMAN,F5H6Y5_HUMAN,F5H4Y4_HUMAN,F5H4J1_HUMAN,F5H3L6_HUMAN,F5H2F3_HUMAN,F5H1L0_HUMAN,F5H0Z7_HUMAN,F5H073_HUMAN,F5H068_HUMAN,F5GZW1_HUMAN,F5GWK2_HUMAN,F5GWA2_HUMAN		22	5840	-			UPI000013DB8B	1890					SNV	NUMA1,missense_variant,p.Gly1890Arg,ENST00000393695,NM_006185.2;NUMA1,missense_variant,p.Gly1876Arg,ENST00000358965,NM_001286561.1;NUMA1,missense_variant,p.Gly754Arg,ENST00000351960,;NUMA1,missense_variant,p.Gly739Arg,ENST00000541584,;IL18BP,downstream_gene_variant,,ENST00000497194,;IL18BP,downstream_gene_variant,,ENST00000404792,NM_173042.2,NM_005699.3;IL18BP,downstream_gene_variant,,ENST00000393703,NM_001039660.1;IL18BP,downstream_gene_variant,,ENST00000337131,;IL18BP,downstream_gene_variant,,ENST00000393705,NM_001039659.1;IL18BP,downstream_gene_variant,,ENST00000260049,NM_001145057.1;IL18BP,downstream_gene_variant,,ENST00000393707,NM_001145055.1;IL18BP,downstream_gene_variant,,ENST00000531053,;NUMA1,non_coding_transcript_exon_variant,,ENST00000541262,;NUMA1,3_prime_UTR_variant,,ENST00000545721,;NUMA1,non_coding_transcript_exon_variant,,ENST00000540626,;IL18BP,downstream_gene_variant,,ENST00000343898,NM_173044.2;IL18BP,downstream_gene_variant,,ENST00000534583,;NUMA1,downstream_gene_variant,,ENST00000546036,;	uc001orl.1	c.5668G>A	6000/7343	2	2			c.5668G>A	T		RARA		APL	11	SNP	c.(5668-5670)GGG>AGG	48	48			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8	Broad	nuclear mitotic apparatus protein 1			71717105		0.592	ENSG00000137497	10561	g.chr11:71717105C>T	G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			525			525	192.353717	KEEP	39	36	-1	69	55	39	36	-1	195.128379	69	55	0.365714	1	0	0	0	0	1	0	0	0	--	--		0	T			NUMA1_uc001orj.2_Missense_Mutation_p.G72R|NUMA1_uc009ysw.1_Missense_Mutation_p.G1457R|NUMA1_uc001ork.1_Missense_Mutation_p.G754R|NUMA1_uc001orm.1_Missense_Mutation_p.G1876R	148	GBM-14-1825-TP	p.G1890R	C	CTGGACACCCCGGCCTGGGAA	NM_006185	NP_006176	71717105	Q14980	NUMA1_HUMAN	0			22	5840	-	T	T			Missense_Mutation	1890						
NUMA1	0	broad.mit.edu	GRCh37	11	71729878	71729878	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-2502-01	TCGA-28-2502-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393695.3:c.733A>G	p.Thr245Ala	p.T245A	ENST00000393695	NM_006185.2	245	Acc/Gcc	0			1			C	T/A	uc001orl.1	protein_coding	YES	CCDS31633.1			733/6348	T		RARA		APL				ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8	c.(733-735)ACC>GCC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF24	nuclear mitotic apparatus protein 1				ENSP00000377298		27-Oct									COSM3398117	27-Oct	.		ENST00000393695	Transcript	1		G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	ENSG00000137497	g.chr11:71729878T>C	8059			MODERATE		-0.145	neutral	getma.org/?cm=msa&ty=f&p=NUMA1_HUMAN&rb=201&re=280&var=T245A	NA	getma.org/?cm=var&var=hg19,11,71729878,T,C&fts=all	T245A	--	--	1																																		NUMA1_uc009ysw.1_5'Flank|NUMA1_uc001ork.1_Missense_Mutation_p.T245A|NUMA1_uc001orm.1_Missense_Mutation_p.T245A|NUMA1_uc001orn.2_5'Flank|NUMA1_uc009ysx.1_Missense_Mutation_p.T245A|NUMA1_uc001oro.1_Missense_Mutation_p.T245A|NUMA1_uc009ysy.1_Missense_Mutation_p.T245A|NUMA1_uc001orp.2_Missense_Mutation_p.T245A|NUMA1_uc001orq.2_Missense_Mutation_p.T245A	1	1		benign(0.213)	p.T245A	NM_006185	NP_006176			1	NUMA1_HUMAN	NUMA1	HGNC	Q14980	NUMA1_HUMAN			Q9UPG3_HUMAN,Q9UNL7_HUMAN,Q86XH4_HUMAN,Q4LE64_HUMAN,G1UI36_HUMAN,F8W6T3_HUMAN,F5H7R5_HUMAN,F5H763_HUMAN,F5H6Y5_HUMAN,F5H4Y4_HUMAN,F5H4J1_HUMAN,F5H3L6_HUMAN,F5H2F3_HUMAN,F5H1L0_HUMAN,F5H0Z7_HUMAN,F5H073_HUMAN,F5H068_HUMAN,F5GZW1_HUMAN,F5GWK2_HUMAN,F5GWA2_HUMAN		10	905	-			UPI000013DB8B	245			Potential.		SNV	NUMA1,missense_variant,p.Thr245Ala,ENST00000393695,NM_006185.2;NUMA1,missense_variant,p.Thr245Ala,ENST00000358965,NM_001286561.1;NUMA1,missense_variant,p.Thr245Ala,ENST00000351960,;NUMA1,missense_variant,p.Thr245Ala,ENST00000542977,;NUMA1,missense_variant,p.Thr245Ala,ENST00000537217,;NUMA1,upstream_gene_variant,,ENST00000541584,;NUMA1,downstream_gene_variant,,ENST00000543937,;NUMA1,downstream_gene_variant,,ENST00000543009,;NUMA1,downstream_gene_variant,,ENST00000544238,;NUMA1,downstream_gene_variant,,ENST00000535087,;NUMA1,downstream_gene_variant,,ENST00000544129,;NUMA1,downstream_gene_variant,,ENST00000541641,;NUMA1,downstream_gene_variant,,ENST00000368959,;NUMA1,downstream_gene_variant,,ENST00000541719,;NUMA1,downstream_gene_variant,,ENST00000537930,;NUMA1,downstream_gene_variant,,ENST00000535947,;NUMA1,downstream_gene_variant,,ENST00000366394,;RP11-849H4.4,intron_variant,,ENST00000502284,;NUMA1,non_coding_transcript_exon_variant,,ENST00000534987,;NUMA1,non_coding_transcript_exon_variant,,ENST00000540843,;NUMA1,non_coding_transcript_exon_variant,,ENST00000536119,;NUMA1,downstream_gene_variant,,ENST00000534971,;	uc001orl.1	c.733A>G	1065/7343	3	3			c.733A>G	T		RARA		APL	11	SNP	c.(733-735)ACC>GCC	60	60			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8	Broad	nuclear mitotic apparatus protein 1			71729878		0.577	ENSG00000137497	10561	g.chr11:71729878T>C	G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			525			525	-45.636697	KEEP	2	1	-1	102	116	2	1	-1	6.303947	102	116	0.015385	1	0	0	0	0	1	0	0	0	--	--		0	C			NUMA1_uc009ysw.1_5'Flank|NUMA1_uc001ork.1_Missense_Mutation_p.T245A|NUMA1_uc001orm.1_Missense_Mutation_p.T245A|NUMA1_uc001orn.2_5'Flank|NUMA1_uc009ysx.1_Missense_Mutation_p.T245A|NUMA1_uc001oro.1_Missense_Mutation_p.T245A|NUMA1_uc009ysy.1_Missense_Mutation_p.T245A|NUMA1_uc001orp.2_Missense_Mutation_p.T245A|NUMA1_uc001orq.2_Missense_Mutation_p.T245A	210	GBM-28-2502-TP	p.T245A	T	CCCTTCTCGGTGAGGAGCTTG	NM_006185	NP_006176	71729878	Q14980	NUMA1_HUMAN	0			10	905	-	C	C			Missense_Mutation	245			Potential.			
NUMA1	0	broad.mit.edu	GRCh37	11	71729532	71729532	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393695.3:c.770G>A	p.Arg257His	p.R257H	ENST00000393695	NM_006185.2	257	cGc/cAc	0		T:0	1	T:0		T	R/H	uc001orl.1	protein_coding	YES	CCDS31633.1			770/6348	T		RARA		APL				ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8	c.(769-771)CGC>CAC			hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF24	nuclear mitotic apparatus protein 1		T:0.001		ENSP00000377298	T:0	27-Nov	2.47E-05			0.000347					rs190582413,COSM3398116	27-Nov	.		ENST00000393695	Transcript	1	T:0.0002	G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	ENSG00000137497	g.chr11:71729532C>T	8059			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=NUMA1_HUMAN&rb=201&re=280&var=R257H	NA	getma.org/?cm=var&var=hg19,11,71729532,C,T&fts=all	R257H	--	--	1																																		NUMA1_uc009ysw.1_5'Flank|NUMA1_uc001ork.1_Missense_Mutation_p.R257H|NUMA1_uc001orm.1_Missense_Mutation_p.R257H|NUMA1_uc001orn.2_5'Flank|NUMA1_uc009ysx.1_Missense_Mutation_p.R257H|NUMA1_uc001oro.1_Missense_Mutation_p.R257H|NUMA1_uc009ysy.1_Missense_Mutation_p.R257H|NUMA1_uc001orp.2_Missense_Mutation_p.R257H|NUMA1_uc001orq.2_Missense_Mutation_p.R257H	0,1	1		probably_damaging(0.999)	p.R257H	NM_006185	NP_006176	T:0		0,1	NUMA1_HUMAN	NUMA1	HGNC	Q14980	NUMA1_HUMAN			Q9UPG3_HUMAN,Q9UNL7_HUMAN,Q86XH4_HUMAN,Q4LE64_HUMAN,G1UI36_HUMAN,F8W6T3_HUMAN,F5H7R5_HUMAN,F5H763_HUMAN,F5H6Y5_HUMAN,F5H4Y4_HUMAN,F5H4J1_HUMAN,F5H3L6_HUMAN,F5H2F3_HUMAN,F5H1L0_HUMAN,F5H0Z7_HUMAN,F5H073_HUMAN,F5H068_HUMAN,F5GZW1_HUMAN,F5GWK2_HUMAN,F5GWA2_HUMAN		11	942	-			UPI000013DB8B	257			Potential.		SNV	NUMA1,missense_variant,p.Arg257His,ENST00000393695,NM_006185.2;NUMA1,missense_variant,p.Arg257His,ENST00000358965,NM_001286561.1;NUMA1,missense_variant,p.Arg257His,ENST00000351960,;NUMA1,missense_variant,p.Arg257His,ENST00000542977,;NUMA1,missense_variant,p.Arg257His,ENST00000537217,;NUMA1,upstream_gene_variant,,ENST00000541584,;NUMA1,downstream_gene_variant,,ENST00000543937,;NUMA1,downstream_gene_variant,,ENST00000543009,;NUMA1,downstream_gene_variant,,ENST00000544238,;NUMA1,downstream_gene_variant,,ENST00000535087,;NUMA1,downstream_gene_variant,,ENST00000544129,;NUMA1,downstream_gene_variant,,ENST00000541641,;NUMA1,downstream_gene_variant,,ENST00000368959,;NUMA1,downstream_gene_variant,,ENST00000541719,;NUMA1,downstream_gene_variant,,ENST00000537930,;NUMA1,downstream_gene_variant,,ENST00000535947,;NUMA1,downstream_gene_variant,,ENST00000366394,;RP11-849H4.4,intron_variant,,ENST00000502284,;NUMA1,non_coding_transcript_exon_variant,,ENST00000534987,;NUMA1,non_coding_transcript_exon_variant,,ENST00000540843,;NUMA1,non_coding_transcript_exon_variant,,ENST00000536119,;NUMA1,downstream_gene_variant,,ENST00000534971,;	uc001orl.1	c.770G>A	1102/7343	1	1			c.770G>A	T		RARA		APL	11	SNP	c.(769-771)CGC>CAC	13	13			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8	Broad	nuclear mitotic apparatus protein 1			71729532		0.557	ENSG00000137497	10561	g.chr11:71729532C>T	G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			525			525	-17.555287	KEEP	3	1	-1	55	62	3	1	-1	6.397471	55	62	0.030303	1	0	0	0	0	1	0	0	0	--	--		0	T			NUMA1_uc009ysw.1_5'Flank|NUMA1_uc001ork.1_Missense_Mutation_p.R257H|NUMA1_uc001orm.1_Missense_Mutation_p.R257H|NUMA1_uc001orn.2_5'Flank|NUMA1_uc009ysx.1_Missense_Mutation_p.R257H|NUMA1_uc001oro.1_Missense_Mutation_p.R257H|NUMA1_uc009ysy.1_Missense_Mutation_p.R257H|NUMA1_uc001orp.2_Missense_Mutation_p.R257H|NUMA1_uc001orq.2_Missense_Mutation_p.R257H	246	GBM-32-4211-TP	p.R257H	C	GCGGTCAATGCGCTGCTGCAT	NM_006185	NP_006176	71729532	Q14980	NUMA1_HUMAN	0			11	942	-	T	T			Missense_Mutation	257			Potential.			
NUP107	0	broad.mit.edu	GRCh37	12	69115670	69115670	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000229179.4:c.1361G>A	p.Arg454Gln	p.R454Q	ENST00000229179	NM_020401.2	454	cGg/cAg	0			1			A	R/Q	uc001suf.2	protein_coding	YES	CCDS8985.1			1361/2778									skin(1)	1	c.(1360-1362)CGG>CAG			hmmpanther:PTHR13003,Pfam_domain:PF04121	nucleoporin 107kDa				ENSP00000229179		16/28	8.24E-06			0.000116					rs766395497,COSM3399018	16/28	.		ENST00000229179	Transcript			carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	ENSG00000111581	g.chr12:69115670G>A	29914			MODERATE		2.36	medium	getma.org/?cm=msa&ty=f&p=NU107_HUMAN&rb=207&re=910&var=R454Q	getma.org/pdb.php?prot=NU107_HUMAN&from=207&to=910&var=R454Q	getma.org/?cm=var&var=hg19,12,69115670,G,A&fts=all	R454Q	--	--	1																																		NUP107_uc001sug.2_Missense_Mutation_p.R301Q|NUP107_uc010stj.1_Missense_Mutation_p.R425Q	0,1	1		possibly_damaging(0.87)	p.R454Q	NM_020401	NP_065134		deleterious(0.01)	0,1	NU107_HUMAN	NUP107	HGNC	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		F5GY77_HUMAN		16	1476	+	Breast(13;6.25e-06)		UPI000012FC0B	454					SNV	NUP107,missense_variant,p.Arg454Gln,ENST00000229179,NM_020401.2;NUP107,missense_variant,p.Arg425Gln,ENST00000539906,;NUP107,missense_variant,p.Arg303Gln,ENST00000378905,;NUP107,missense_variant,p.Arg31Gln,ENST00000538993,;NUP107,3_prime_UTR_variant,,ENST00000535718,;	uc001suf.2	c.1361G>A	1693/3653	1	1			c.1361G>A						12	SNP	c.(1360-1362)CGG>CAG	58	58			skin(1)	1	Broad	nucleoporin 107kDa			69115670		0.448	ENSG00000111581	10564	g.chr12:69115670G>A	carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding							138.605599	KEEP	32	24	-1	60	54	32	24	-1	143.179826	60	54	0.312925	1	0	0	0	0	1	0	0	0	--	--		0	A			NUP107_uc001sug.2_Missense_Mutation_p.R301Q|NUP107_uc010stj.1_Missense_Mutation_p.R425Q	197	GBM-27-1838-TP	p.R454Q	G	GCCTACTTCCGGGTGATGGTG	NM_020401	NP_065134	69115670	P57740	NU107_HUMAN	0	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		16	1476	+	A	A	Breast(13;6.25e-06)		Missense_Mutation	454						
NUP107	57122		GRCh37	12	69124921	69124921	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000229179.4:c.1766T>C	p.Ile589Thr	p.I589T	ENST00000229179	NM_020401.2	589	aTa/aCa	0																																																																																																																																																																																																																																												
NUP133	55746	broad.mit.edu	GRCh37	1	229577744	229577744	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0158-01	TCGA-06-0158-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261396.3:c.3378A>G	p.Leu1126=	p.L1126=	ENST00000261396	NM_018230.2	1126	ctA/ctG	0			1			C	L	uc001htn.2	protein_coding	YES	CCDS1579.1			3378/3471									breast(4)|skin(2)|ovary(1)	7	c.(3376-3378)CTA>CTG			hmmpanther:PTHR13405:SF11,hmmpanther:PTHR13405	nucleoporin 133kDa				ENSP00000261396		26/26	0.00014					4.50E-05		0.000848	rs761704409,COSM3400449	26/26	common_variant		ENST00000261396	Transcript			carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	ENSG00000069248	g.chr1:229577744T>C	18016			LOW								--	--	1																																			0,1	1			p.L1126L	NM_018230	NP_060700			0,1	NU133_HUMAN	NUP133	HGNC	Q8WUM0	NU133_HUMAN					26	3470	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	UPI000013D17A	1126					SNV	NUP133,synonymous_variant,p.=,ENST00000261396,NM_018230.2;NUP133,synonymous_variant,p.=,ENST00000537506,;RP5-1068B5.3,upstream_gene_variant,,ENST00000434311,;NUP133,non_coding_transcript_exon_variant,,ENST00000490352,;	uc001htn.2	c.3378A>G	3470/4169	3	3			c.3378A>G						1	SNP	c.(3376-3378)CTA>CTG	63	63			breast(4)|skin(2)|ovary(1)	7	Broad	nucleoporin 133kDa			229577744		0.343	ENSG00000069248	10565	g.chr1:229577744T>C	carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			578			578	-21.960658	KEEP	6	6	-1	122	130	6	6	-1	26.962742	122	130	0.048673	1	0	0	0	0	0	0	1	0	--	--		0	C				29	GBM-06-0158-TP	p.L1126L	T	GATCCGCTTGTAGCAGGTCTT	NM_018230	NP_060700	229577744	Q8WUM0	NU133_HUMAN	0			26	3470	-	C	C	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	Silent	1126						
NUP153	9972	broad.mit.edu	GRCh37	6	17629357	17629357	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01	TCGA-06-2564-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262077.2:c.3073G>A	p.Gly1025Ser	p.G1025S	ENST00000262077	NM_001278210.1	1025	Ggt/Agt	0			1			T	G/S	uc003ncd.1	protein_coding	YES	CCDS4541.1			3073/4428									lung(4)|ovary(2)|breast(2)|skin(1)	9	c.(3073-3075)GGT>AGT			hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF18	nucleoporin 153kDa				ENSP00000262077		18/22									COSM2152933,COSM3948814	18/22	.		ENST00000262077	Transcript			carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	ENSG00000124789	g.chr6:17629357C>T	8062			MODERATE		2.475	medium	getma.org/?cm=msa&ty=f&p=NU153_HUMAN&rb=881&re=1080&var=G1025S	NA	getma.org/?cm=var&var=hg19,6,17629357,C,T&fts=all	G1025S	--	--	1																																		NUP153_uc011dje.1_Missense_Mutation_p.G1056S|NUP153_uc010jpl.1_Missense_Mutation_p.G983S	1,1	1		possibly_damaging(0.786)	p.G1025S	NM_005124	NP_005115		deleterious(0.01)	1,1	NU153_HUMAN	NUP153	HGNC	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)				18	3273	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	UPI000013D251	1025					SNV	NUP153,missense_variant,p.Gly1025Ser,ENST00000262077,NM_001278210.1,NM_005124.3;NUP153,missense_variant,p.Gly1056Ser,ENST00000537253,NM_001278209.1;	uc003ncd.1	c.3073G>A	3073/5487	2	2			c.3073G>A						6	SNP	c.(3073-3075)GGT>AGT	42	42			lung(4)|ovary(2)|breast(2)|skin(1)	9	Broad	nucleoporin 153kDa			17629357		0.443	ENSG00000124789	10566	g.chr6:17629357C>T	carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			1004			1004	171.574645	KEEP	23	38	-1	48	63	23	38	-1	174.633568	48	63	0.355422	1	0	0	0	0	1	0	0	0	--	--		0	T			NUP153_uc011dje.1_Missense_Mutation_p.G1056S|NUP153_uc010jpl.1_Missense_Mutation_p.G983S	87	GBM-06-2564-TP	p.G1025S	C	ACACCTGTACCAAAGCTAAAA	NM_005124	NP_005115	17629357	P49790	NU153_HUMAN	0	all cancers(50;0.0981)|Epithelial(50;0.112)		18	3273	-	T	T	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	Missense_Mutation	1025						
NUP153	0	broad.mit.edu	GRCh37	6	17616339	17616339	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262077.2:c.4417C>T	p.Arg1473Cys	p.R1473C	ENST00000262077	NM_001278210.1	1473	Cgc/Tgc	0			1			A	R/C	uc003ncd.1	protein_coding	YES	CCDS4541.1			4417/4428									lung(4)|ovary(2)|breast(2)|skin(1)	9	c.(4417-4419)CGC>TGC			Pfam_domain:PF10599,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF18	nucleoporin 153kDa				ENSP00000262077		22/22									COSM2154817	22/22	.		ENST00000262077	Transcript			carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	ENSG00000124789	g.chr6:17616339G>A	8062			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=NU153_HUMAN&rb=1385&re=1475&var=R1473C	NA	getma.org/?cm=var&var=hg19,6,17616339,G,A&fts=all	R1473C	--	--	1																																		NUP153_uc011dje.1_Missense_Mutation_p.R1504C|NUP153_uc010jpl.1_Missense_Mutation_p.R1431C	1	1		probably_damaging(1)	p.R1473C	NM_005124	NP_005115		deleterious(0)	1	NU153_HUMAN	NUP153	HGNC	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)				22	4617	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	UPI000013D251	1473					SNV	NUP153,missense_variant,p.Arg1473Cys,ENST00000262077,NM_001278210.1,NM_005124.3;NUP153,missense_variant,p.Arg1504Cys,ENST00000537253,NM_001278209.1;FAM8A1,downstream_gene_variant,,ENST00000259963,NM_016255.2;RNU6-190P,upstream_gene_variant,,ENST00000384154,;	uc003ncd.1	c.4417C>T	4417/5487	2	2			c.4417C>T						6	SNP	c.(4417-4419)CGC>TGC	17	17			lung(4)|ovary(2)|breast(2)|skin(1)	9	Broad	nucleoporin 153kDa			17616339		0.388	ENSG00000124789	10566	g.chr6:17616339G>A	carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			1004			1004	196.549243	KEEP	38	40	-1	49	60	38	40	-1	197.428848	49	60	0.419355	1	0	0	0	0	1	0	0	0	--	--		0	A			NUP153_uc011dje.1_Missense_Mutation_p.R1504C|NUP153_uc010jpl.1_Missense_Mutation_p.R1431C	139	GBM-14-0817-TP	p.R1473C	G	TATTTCCTGCGTCTAACAGCA	NM_005124	NP_005115	17616339	P49790	NU153_HUMAN	0	all cancers(50;0.0981)|Epithelial(50;0.112)		22	4617	-	A	A	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	Missense_Mutation	1473						
NUP188	0	broad.mit.edu	GRCh37	9	131752466	131752466	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-4934-01	TCGA-76-4934-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372577.2:c.2601G>T	p.Leu867Phe	p.L867F	ENST00000372577	NM_015354.2	867	ttG/ttT	0			1			T	L/F	uc004bws.1	protein_coding	YES	CCDS35156.1			2601/5250									ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7	c.(2599-2601)TTG>TTT			hmmpanther:PTHR31431,hmmpanther:PTHR31431:SF1,Pfam_domain:PF10487	nucleoporin 188kDa				ENSP00000361658		25/44									COSM3413374	25/44	.		ENST00000372577	Transcript			carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	ENSG00000095319	g.chr9:131752466G>T	17859			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=NU188_HUMAN&rb=27&re=944&var=L867F	NA	getma.org/?cm=var&var=hg19,9,131752466,G,T&fts=all	L867F	--	--	1																																		NUP188_uc004bwu.2_Missense_Mutation_p.L210F	1	1		probably_damaging(0.998)	p.L867F	NM_015354	NP_056169		deleterious(0)	1	NU188_HUMAN	NUP188	HGNC	Q5SRE5	NU188_HUMAN					25	2623	+			UPI000041A60F	867					SNV	NUP188,missense_variant,p.Leu867Phe,ENST00000372577,NM_015354.2;NUP188,non_coding_transcript_exon_variant,,ENST00000491502,;NUP188,upstream_gene_variant,,ENST00000467044,;NUP188,downstream_gene_variant,,ENST00000465344,;NUP188,non_coding_transcript_exon_variant,,ENST00000477069,;NUP188,upstream_gene_variant,,ENST00000495726,;NUP188,upstream_gene_variant,,ENST00000485158,;	uc004bws.1	c.2601G>T	2622/5689	1	1			c.2601G>T						9	SNP	c.(2599-2601)TTG>TTT	4	4			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7	Broad	nucleoporin 188kDa			131752466		0.448	ENSG00000095319	10569	g.chr9:131752466G>T	carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding							-194.208114	KEEP	5	5	0.5	493	488	5	5	0.5	11.155044	493	488	0.010724	1	0	0	0	0	1	0	0	0	--	--		0	T			NUP188_uc004bwu.2_Missense_Mutation_p.L210F	272	GBM-76-4934-TP	p.L867F	G	ACCCTGCTTTGCCACGTCTTG	NM_015354	NP_056169	131752466	Q5SRE5	NU188_HUMAN	0			25	2623	+	T	T			Missense_Mutation	867						
NUP205	23165	broad.mit.edu	GRCh37	7	135300745	135300745	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01	TCGA-06-0158-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285968.6:c.3392G>A	p.Arg1131His	p.R1131H	ENST00000285968	NM_015135.2	1131	cGt/cAt	0			1			A	R/H	uc003vsw.2	protein_coding	YES	CCDS34759.1			3392/6039									ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	c.(3391-3393)CGT>CAT			hmmpanther:PTHR31344:SF0,hmmpanther:PTHR31344,Pfam_domain:PF11894	nucleoporin 205kDa				ENSP00000285968		24/43									COSM2150125	24/43	.		ENST00000285968	Transcript			carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	ENSG00000155561	g.chr7:135300745G>A	18658			MODERATE		1.78	low	getma.org/?cm=msa&ty=f&p=NU205_HUMAN&rb=13&re=1730&var=R1131H	NA	getma.org/?cm=var&var=hg19,7,135300745,G,A&fts=all	R1131H	--	--	1																																			1	1		possibly_damaging(0.786)	p.R1131H	NM_015135	NP_055950		tolerated(0.07)	1	NU205_HUMAN	NUP205	HGNC	Q92621	NU205_HUMAN			Q6P486_HUMAN,Q6DKH1_HUMAN		24	3423	+			UPI00001D74D8	1131					SNV	NUP205,missense_variant,p.Arg1131His,ENST00000285968,NM_015135.2;NUP205,incomplete_terminal_codon_variant,p.=,ENST00000472132,;NUP205,3_prime_UTR_variant,,ENST00000463247,;NUP205,non_coding_transcript_exon_variant,,ENST00000607647,;NUP205,upstream_gene_variant,,ENST00000477620,;	uc003vsw.2	c.3392G>A	3418/6266	2	2			c.3392G>A						7	SNP	c.(3391-3393)CGT>CAT	20	20			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	Broad	nucleoporin 205kDa			135300745		0.403	ENSG00000155561	10570	g.chr7:135300745G>A	carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding							160.385211	KEEP	29	32	-1	53	52	29	32	-1	162.334317	53	52	0.376712	1	0	0	0	0	1	0	0	0	--	--		0	A				29	GBM-06-0158-TP	p.R1131H	G	TCTCTGAATCGTCAGCGGTCA	NM_015135	NP_055950	135300745	Q92621	NU205_HUMAN	0			24	3423	+	A	A			Missense_Mutation	1131						
NUP205	0	broad.mit.edu	GRCh37	7	135311087	135311087	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285968.6:c.4771C>T	p.Arg1591Cys	p.R1591C	ENST00000285968	NM_015135.2	1591	Cgc/Tgc	0			1			T	R/C	uc003vsw.2	protein_coding	YES	CCDS34759.1			4771/6039									ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	c.(4771-4773)CGC>TGC			hmmpanther:PTHR31344:SF0,hmmpanther:PTHR31344,Pfam_domain:PF11894	nucleoporin 205kDa				ENSP00000285968		33/43	8.24E-06			0.000116					rs768219930,COSM3411616	33/43	.		ENST00000285968	Transcript			carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	ENSG00000155561	g.chr7:135311087C>T	18658			MODERATE		1.525	low	getma.org/?cm=msa&ty=f&p=NU205_HUMAN&rb=13&re=1730&var=R1591C	NA	getma.org/?cm=var&var=hg19,7,135311087,C,T&fts=all	R1591C	--	--	1																																		NUP205_uc003vsx.2_RNA	0,1	1		probably_damaging(0.988)	p.R1591C	NM_015135	NP_055950		deleterious(0)	0,1	NU205_HUMAN	NUP205	HGNC	Q92621	NU205_HUMAN			Q6P486_HUMAN,Q6DKH1_HUMAN		33	4802	+			UPI00001D74D8	1591					SNV	NUP205,missense_variant,p.Arg1591Cys,ENST00000285968,NM_015135.2;NUP205,missense_variant,p.Arg173Cys,ENST00000477620,;NUP205,non_coding_transcript_exon_variant,,ENST00000607647,;	uc003vsw.2	c.4771C>T	4797/6266	2	2			c.4771C>T						7	SNP	c.(4771-4773)CGC>TGC	20	20			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	Broad	nucleoporin 205kDa			135311087		0.423	ENSG00000155561	10570	g.chr7:135311087C>T	carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding							-27.766642	KEEP	4	2	-1	68	95	4	2	-1	8.244533	68	95	0.033113	1	0	0	0	0	1	0	0	0	--	--		0	T			NUP205_uc003vsx.2_RNA	160	GBM-19-1790-TP	p.R1591C	C	CTATGACATGCGCCCAGAAAC	NM_015135	NP_055950	135311087	Q92621	NU205_HUMAN	0			33	4802	+	T	T			Missense_Mutation	1591						
NUP205	0	broad.mit.edu	GRCh37	7	135304420	135304420	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285968.6:c.4213G>T	p.Asp1405Tyr	p.D1405Y	ENST00000285968	NM_015135.2	1405	Gac/Tac	0			1			T	D/Y	uc003vsw.2	protein_coding	YES	CCDS34759.1			4213/6039									ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	c.(4213-4215)GAC>TAC			Low_complexity_(Seg):seg,hmmpanther:PTHR31344:SF0,hmmpanther:PTHR31344,Pfam_domain:PF11894	nucleoporin 205kDa				ENSP00000285968		29/43									COSM3411615	29/43	.		ENST00000285968	Transcript			carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	ENSG00000155561	g.chr7:135304420G>T	18658			MODERATE		1.795	low	getma.org/?cm=msa&ty=f&p=NU205_HUMAN&rb=13&re=1730&var=D1405Y	NA	getma.org/?cm=var&var=hg19,7,135304420,G,T&fts=all	D1405Y	--	--	1																																		NUP205_uc003vsx.2_5'Flank	1	1		possibly_damaging(0.905)	p.D1405Y	NM_015135	NP_055950		deleterious(0)	1	NU205_HUMAN	NUP205	HGNC	Q92621	NU205_HUMAN			Q6P486_HUMAN,Q6DKH1_HUMAN		29	4244	+			UPI00001D74D8	1405					SNV	NUP205,missense_variant,p.Asp1405Tyr,ENST00000285968,NM_015135.2;NUP205,downstream_gene_variant,,ENST00000472132,;NUP205,non_coding_transcript_exon_variant,,ENST00000607647,;NUP205,upstream_gene_variant,,ENST00000477620,;NUP205,downstream_gene_variant,,ENST00000463247,;	uc003vsw.2	c.4213G>T	4239/6266	1	1			c.4213G>T						7	SNP	c.(4213-4215)GAC>TAC	13	13			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	Broad	nucleoporin 205kDa			135304420		0.303	ENSG00000155561	10570	g.chr7:135304420G>T	carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding							61.87535	KEEP	14	20	0.411764706	76	81	14	20	0.411764706	80.788012	76	81	0.172043	1	0	0	0	0	1	0	0	0	--	--		0	T			NUP205_uc003vsx.2_5'Flank	232	GBM-32-1982-TP	p.D1405Y	G	GAAACTGTTAGACTTCATTTT	NM_015135	NP_055950	135304420	Q92621	NU205_HUMAN	0			29	4244	+	T	T			Missense_Mutation	1405						
NUP210	23225	broad.mit.edu	GRCh37	3	13379344	13379344	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01	TCGA-06-0166-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254508.5:c.3545G>A	p.Gly1182Asp	p.G1182D	ENST00000254508	NM_024923.3	1182	gGc/gAc	0			1			T	G/D	uc003bxv.1	protein_coding	YES	CCDS33704.1			3545/5664									ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	c.(3544-3546)GGC>GAC			hmmpanther:PTHR23019,hmmpanther:PTHR23019:SF2	nucleoporin 210 precursor				ENSP00000254508		26/40									COSM3408248	26/40	.		ENST00000254508	Transcript			carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		ENSG00000132182	g.chr3:13379344C>T	30052			MODERATE		2.05	medium	getma.org/?cm=msa&ty=f&p=PO210_HUMAN&rb=1153&re=1352&var=G1182D	NA	getma.org/?cm=var&var=hg19,3,13379344,C,T&fts=all	G1182D	--	--	1																																			1	1		benign(0.303)	p.G1182D	NM_024923	NP_079199		tolerated(0.05)	1	PO210_HUMAN	NUP210	HGNC	Q8TEM1	PO210_HUMAN					26	3628	-	all_neural(104;0.187)		UPI00001600AF	1182			Lumenal (Probable).		SNV	NUP210,missense_variant,p.Gly1182Asp,ENST00000254508,NM_024923.3;NUP210,intron_variant,,ENST00000485755,;	uc003bxv.1	c.3545G>A	3628/7191	2	2			c.3545G>A						3	SNP	c.(3544-3546)GGC>GAC	29	29			ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	Broad	nucleoporin 210 precursor			13379344		0.627	ENSG00000132182	10571	g.chr3:13379344C>T	carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				587			587	3.009063	KEEP	2	1	-1	13	18	2	1	-1	7.04311	13	18	0.111111	1	0	0	0	0	1	0	0	0	--	--		0	T				31	GBM-06-0166-TP	p.G1182D	C	CACCTGGGTGCCCGTCCTCAT	NM_024923	NP_079199	13379344	Q8TEM1	PO210_HUMAN	0			26	3628	-	T	T	all_neural(104;0.187)		Missense_Mutation	1182			Lumenal (Probable).			
NUP210	0	broad.mit.edu	GRCh37	3	13432743	13432743	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-2629-01	TCGA-19-2629-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254508.5:c.501G>A	p.Ala167=	p.A167=	ENST00000254508	NM_024923.3	167	gcG/gcA	0			1			T	A	uc003bxv.1	protein_coding	YES	CCDS33704.1			501/5664									ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	c.(499-501)GCG>GCA			hmmpanther:PTHR23019,hmmpanther:PTHR23019:SF2	nucleoporin 210 precursor				ENSP00000254508		Apr-40									COSM3408253	Apr-40	.		ENST00000254508	Transcript			carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		ENSG00000132182	g.chr3:13432743C>T	30052			LOW								--	--	1																																			1	1			p.A167A	NM_024923	NP_079199			1	PO210_HUMAN	NUP210	HGNC	Q8TEM1	PO210_HUMAN					4	584	-	all_neural(104;0.187)		UPI00001600AF	167			Lumenal (Probable).		SNV	NUP210,synonymous_variant,p.=,ENST00000254508,NM_024923.3;NUP210,non_coding_transcript_exon_variant,,ENST00000420141,;	uc003bxv.1	c.501G>A	584/7191	2	2			c.501G>A						3	SNP	c.(499-501)GCG>GCA	42	42			ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	Broad	nucleoporin 210 precursor			13432743		0.582	ENSG00000132182	10571	g.chr3:13432743C>T	carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				587			587	22.789017	KEEP	5	4	-1	11	12	5	4	-1	23.942375	11	12	0.285714	1	0	0	0	0	0	0	1	0	--	--		0	T				166	GBM-19-2629-TP	p.A167A	C	AGAACCTGTCCGCCTCGGAGT	NM_024923	NP_079199	13432743	Q8TEM1	PO210_HUMAN	0			4	584	-	T	T	all_neural(104;0.187)		Silent	167			Lumenal (Probable).			
NUP210	23225		GRCh37	3	13427820	13427820	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000254508.5:c.772T>C	p.Ser258Pro	p.S258P	ENST00000254508	NM_024923.3	258	Tcc/Ccc	0																																																																																																																																																																																																																																												
NUP210L	91181	broad.mit.edu	GRCh37	1	154062058	154062058	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0749-01	TCGA-06-0749-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368559.3:c.2200C>T	p.Arg734Ter	p.R734*	ENST00000368559	NM_207308.2	734	Cga/Tga	0			1			A	R/*	uc001fdw.2	protein_coding	YES	CCDS41399.1			2200/5667									skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	c.(2200-2202)CGA>TGA			hmmpanther:PTHR23019:SF1,hmmpanther:PTHR23019	nucleoporin 210kDa-like isoform 1				ENSP00000357547		16/40	1.66E-05	0.000103	8.67E-05						rs771522844,COSM2151913	16/40	.		ENST00000368559	Transcript				integral to membrane		ENSG00000143552	g.chr1:154062058G>A	29915			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,154062058,G,A&fts=all	R734*	--	--	1																																		NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Nonsense_Mutation_p.R734*	0,1	1			p.R734*	NM_207308	NP_997191			0,1	P210L_HUMAN	NUP210L	HGNC	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)				16	2272	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		UPI000023724F	734					SNV	NUP210L,stop_gained,p.Arg734Ter,ENST00000368559,NM_207308.2;NUP210L,stop_gained,p.Arg734Ter,ENST00000271854,NM_001159484.1;	uc001fdw.2	c.2200C>T	2272/5889	5	1			c.2200C>T						1	SNP	c.(2200-2202)CGA>TGA	50	50			skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	Broad	nucleoporin 210kDa-like isoform 1			154062058		0.423	ENSG00000143552	10572	g.chr1:154062058G>A		integral to membrane								164.057707	KEEP	31	21	-1	61	37	31	21	-1	166.829661	61	37	0.353741	1	0	0	0	0	0	1	0	0	--	--		0	A			NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Nonsense_Mutation_p.R734*	69	GBM-06-0749-TP	p.R734*	G	TTTCCAATTCGGAATGTGAGA	NM_207308	NP_997191	154062058	Q5VU65	P210L_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		16	2272	-	A	A	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		Nonsense_Mutation	734						
NUP210L	0	broad.mit.edu	GRCh37	1	154062057	154062057	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6700-01	TCGA-06-6700-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368559.3:c.2201G>A	p.Arg734Gln	p.R734Q	ENST00000368559	NM_207308.2	734	cGa/cAa	0			1			T	R/Q	uc001fdw.2	protein_coding	YES	CCDS41399.1			2201/5667									skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	c.(2200-2202)CGA>CAA			hmmpanther:PTHR23019:SF1,hmmpanther:PTHR23019	nucleoporin 210kDa-like isoform 1				ENSP00000357547		16/40	3.31E-05							0.000243	rs745416091,COSM1334368	16/40	.		ENST00000368559	Transcript				integral to membrane		ENSG00000143552	g.chr1:154062057C>T	29915			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=P210L_HUMAN&rb=601&re=800&var=R734Q	NA	getma.org/?cm=var&var=hg19,1,154062057,C,T&fts=all	R734Q	--	--	1																																		NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Missense_Mutation_p.R734Q	0,1	1		benign(0.023)	p.R734Q	NM_207308	NP_997191		tolerated(0.21)	0,1	P210L_HUMAN	NUP210L	HGNC	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)				16	2273	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		UPI000023724F	734					SNV	NUP210L,missense_variant,p.Arg734Gln,ENST00000368559,NM_207308.2;NUP210L,missense_variant,p.Arg734Gln,ENST00000271854,NM_001159484.1;	uc001fdw.2	c.2201G>A	2273/5889	1	1			c.2201G>A						1	SNP	c.(2200-2202)CGA>CAA	8	8			skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	Broad	nucleoporin 210kDa-like isoform 1			154062057		0.423	ENSG00000143552	10572	g.chr1:154062057C>T		integral to membrane								42.203262	KEEP	8	12	-1	38	35	8	12	-1	47.59937	38	35	0.231707	1	0	0	0	0	1	0	0	0	--	--		0	T			NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Missense_Mutation_p.R734Q	114	GBM-06-6700-TP	p.R734Q	C	ATTTCCAATTCGGAATGTGAG	NM_207308	NP_997191	154062057	Q5VU65	P210L_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		16	2273	-	T	T	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		Missense_Mutation	734						
NUP210L	0	broad.mit.edu	GRCh37	1	154062058	154062058	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368559.3:c.2200C>T	p.Arg734Ter	p.R734*	ENST00000368559	NM_207308.2	734	Cga/Tga	0			1			A	R/*	uc001fdw.2	protein_coding	YES	CCDS41399.1			2200/5667									skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	c.(2200-2202)CGA>TGA			hmmpanther:PTHR23019:SF1,hmmpanther:PTHR23019	nucleoporin 210kDa-like isoform 1				ENSP00000357547		16/40	1.66E-05	0.000103	8.67E-05						rs771522844,COSM2151913	16/40	.		ENST00000368559	Transcript				integral to membrane		ENSG00000143552	g.chr1:154062058G>A	29915			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,154062058,G,A&fts=all	R734*	--	--	1																																		NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Nonsense_Mutation_p.R734*	0,1	1			p.R734*	NM_207308	NP_997191			0,1	P210L_HUMAN	NUP210L	HGNC	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)				16	2272	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		UPI000023724F	734					SNV	NUP210L,stop_gained,p.Arg734Ter,ENST00000368559,NM_207308.2;NUP210L,stop_gained,p.Arg734Ter,ENST00000271854,NM_001159484.1;	uc001fdw.2	c.2200C>T	2272/5889	5	1			c.2200C>T						1	SNP	c.(2200-2202)CGA>TGA	50	50			skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	Broad	nucleoporin 210kDa-like isoform 1			154062058		0.423	ENSG00000143552	10572	g.chr1:154062058G>A		integral to membrane								161.237045	KEEP	22	38	-1	42	53	22	38	-1	163.241868	42	53	0.373239	1	0	0	0	0	0	1	0	0	--	--		0	A			NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Nonsense_Mutation_p.R734*	131	GBM-12-5301-TP	p.R734*	G	TTTCCAATTCGGAATGTGAGA	NM_207308	NP_997191	154062058	Q5VU65	P210L_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		16	2272	-	A	A	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		Nonsense_Mutation	734						
NUP210L	0	broad.mit.edu	GRCh37	1	154125256	154125256	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs150389273	by1000genomes	TCGA-32-4208-01	TCGA-32-4208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368559.3:c.296C>G	p.Thr99Arg	p.T99R	ENST00000368559	NM_207308.2	99	aCg/aGg	0			1			C	T/R	uc001fdw.2	protein_coding	YES	CCDS41399.1			296/5667									skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	c.(295-297)ACG>AGG			hmmpanther:PTHR23019:SF1,hmmpanther:PTHR23019	nucleoporin 210kDa-like isoform 1				ENSP00000357547		Feb-40									COSM3399775	Feb-40	.		ENST00000368559	Transcript				integral to membrane		ENSG00000143552	g.chr1:154125256G>C	29915			MODERATE		1.175	low	getma.org/?cm=msa&ty=f&p=P210L_HUMAN&rb=1&re=200&var=T99R	NA	getma.org/?cm=var&var=hg19,1,154125256,G,C&fts=all	T99R	--	--	1																																		NUP210L_uc010peh.1_Missense_Mutation_p.T99R	1	1		possibly_damaging(0.673)	p.T99R	NM_207308	NP_997191		tolerated(0.08)	1	P210L_HUMAN	NUP210L	HGNC	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)				2	368	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		UPI000023724F	99					SNV	NUP210L,missense_variant,p.Thr99Arg,ENST00000368559,NM_207308.2;NUP210L,missense_variant,p.Thr99Arg,ENST00000271854,NM_001159484.1;TPM3,downstream_gene_variant,,ENST00000368533,NM_153649.3,NM_001278188.1,NM_001278190.1,NM_001043352.1;TPM3,downstream_gene_variant,,ENST00000330188,NM_001043353.1,NM_001043351.1;TPM3,downstream_gene_variant,,ENST00000341485,;TPM3,downstream_gene_variant,,ENST00000341372,;TPM3,downstream_gene_variant,,ENST00000328159,NM_001278189.1;TPM3,downstream_gene_variant,,ENST00000271850,;TPM3,downstream_gene_variant,,ENST00000302206,NM_001278191.1;TPM3,downstream_gene_variant,,ENST00000469717,;TPM3,downstream_gene_variant,,ENST00000312970,;TPM3,downstream_gene_variant,,ENST00000368545,;TPM3,downstream_gene_variant,,ENST00000509409,;TPM3,downstream_gene_variant,,ENST00000513769,;	uc001fdw.2	c.296C>G	368/5889	3	3			c.296C>G						1	SNP	c.(295-297)ACG>AGG	61	61			skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	Broad	nucleoporin 210kDa-like isoform 1			154125256		0.423	ENSG00000143552	10572	g.chr1:154125256G>C		integral to membrane								-39.539129	KEEP	3	0	-1	81	109	3	0	-1	7.129163	81	109	0.016949	1	0	0	0	0	1	0	0	0	--	--		0	C			NUP210L_uc010peh.1_Missense_Mutation_p.T99R	243	GBM-32-4208-TP	p.T99R	G	TATCGGTTGCGTAGATTCAGC	NM_207308	NP_997191	154125256	Q5VU65	P210L_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		2	368	-	C	C	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		Missense_Mutation	99						
NUP210L	0	broad.mit.edu	GRCh37	1	154067448	154067448	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-4932-01	TCGA-76-4932-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368559.3:c.2150A>G	p.Tyr717Cys	p.Y717C	ENST00000368559	NM_207308.2	717	tAc/tGc	0			1			C	Y/C	uc001fdw.2	protein_coding	YES	CCDS41399.1			2150/5667									skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	c.(2149-2151)TAC>TGC			hmmpanther:PTHR23019:SF1,hmmpanther:PTHR23019	nucleoporin 210kDa-like isoform 1				ENSP00000357547		15/40									COSM1667992	15/40	.		ENST00000368559	Transcript				integral to membrane		ENSG00000143552	g.chr1:154067448T>C	29915			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=P210L_HUMAN&rb=601&re=800&var=Y717C	NA	getma.org/?cm=var&var=hg19,1,154067448,T,C&fts=all	Y717C	--	--	1																																		NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Missense_Mutation_p.Y717C	1	1		probably_damaging(0.977)	p.Y717C	NM_207308	NP_997191		deleterious(0)	1	P210L_HUMAN	NUP210L	HGNC	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)				15	2222	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		UPI000023724F	717					SNV	NUP210L,missense_variant,p.Tyr717Cys,ENST00000368559,NM_207308.2;NUP210L,missense_variant,p.Tyr717Cys,ENST00000271854,NM_001159484.1;	uc001fdw.2	c.2150A>G	2222/5889	3	3			c.2150A>G						1	SNP	c.(2149-2151)TAC>TGC	54	54			skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	Broad	nucleoporin 210kDa-like isoform 1			154067448		0.398	ENSG00000143552	10572	g.chr1:154067448T>C		integral to membrane								256.771522	KEEP	33	47	-1	40	22	33	47	-1	257.062882	40	22	0.551181	1	0	0	0	0	1	0	0	0	--	--		0	C			NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Missense_Mutation_p.Y717C	271	GBM-76-4932-TP	p.Y717C	T	CCGGTAGATGTACTGGTTCTG	NM_207308	NP_997191	154067448	Q5VU65	P210L_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		15	2222	-	C	C	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		Missense_Mutation	717						
NUP210L	91181		GRCh37	1	153973356	153973356	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000368559.3:c.5362G>T	p.Ala1788Ser	p.A1788S	ENST00000368559	NM_207308.2	1788	Gct/Tct	0																																																																																																																																																																																																																																												
NUP214	0	broad.mit.edu	GRCh37	9	134022964	134022964	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-14-1823-01	TCGA-14-1823-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359428.5:c.2033C>G	p.Ser678Cys	p.S678C	ENST00000359428	NM_005085.3	678	tCt/tGt	0			1			G	S/C	uc004cag.2	protein_coding	YES	CCDS6940.1			2033/6273	T		DEK|SET|ABL1		AML|T-ALL				breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	c.(2032-2034)TCT>TGT			hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF21	nucleoporin 214kDa				ENSP00000352400		14/36									COSM3413391,COSM3413392	14/36	.		ENST00000359428	Transcript	1		carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	ENSG00000126883	g.chr9:134022964C>G	8064			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=NU214_HUMAN&rb=421&re=2088&var=S678C	NA	getma.org/?cm=var&var=hg19,9,134022964,C,G&fts=all	S678C	--	--	1																																		NUP214_uc004cah.2_Missense_Mutation_p.S668C|NUP214_uc004cai.2_Missense_Mutation_p.S108C|NUP214_uc004caf.1_Missense_Mutation_p.S667C|NUP214_uc010mzf.2_Intron	1,1	1		possibly_damaging(0.526)	p.S678C	NM_005085	NP_005076			1,1	NU214_HUMAN	NUP214	HGNC	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	H0YDI2_HUMAN,E9PS86_HUMAN		14	2144	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	UPI00001BBB2F	678			11 X 5 AA approximate repeats.		SNV	NUP214,missense_variant,p.Ser678Cys,ENST00000359428,NM_005085.3;NUP214,missense_variant,p.Ser668Cys,ENST00000411637,;NUP214,missense_variant,p.Ser679Cys,ENST00000451030,;NUP214,downstream_gene_variant,,ENST00000530863,;RP11-544A12.4,intron_variant,,ENST00000589540,;RP11-544A12.4,intron_variant,,ENST00000586290,;RP11-544A12.4,intron_variant,,ENST00000415391,;RP11-544A12.4,intron_variant,,ENST00000587264,;RP11-544A12.4,intron_variant,,ENST00000590461,;RP11-544A12.4,intron_variant,,ENST00000588378,;RP11-544A12.4,intron_variant,,ENST00000589667,;RP11-544A12.4,intron_variant,,ENST00000587408,;NUP214,upstream_gene_variant,,ENST00000530630,;NUP214,intron_variant,,ENST00000525980,;	uc004cag.2	c.2033C>G	2177/7600	3	3			c.2033C>G	T		DEK|SET|ABL1		AML|T-ALL	9	SNP	c.(2032-2034)TCT>TGT	59	59			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	Broad	nucleoporin 214kDa			134022964		0.433	ENSG00000126883	10573	g.chr9:134022964C>G	carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	Pancreas(4;24 48 25510 30394 32571)		1058	Pancreas(4;24 48 25510 30394 32571)		1058	96.413318	KEEP	19	15	-1	52	48	19	15	-1	103.217878	52	48	0.257812	1	0	0	0	0	1	0	0	0	--	--		0	G			NUP214_uc004cah.2_Missense_Mutation_p.S668C|NUP214_uc004cai.2_Missense_Mutation_p.S108C|NUP214_uc004caf.1_Missense_Mutation_p.S667C|NUP214_uc010mzf.2_Intron	147	GBM-14-1823-TP	p.S678C	C	AAGCCAGGCTCTCCCCAGGTA	NM_005085	NP_005076	134022964	P35658	NU214_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	14	2144	+	G	G	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	Missense_Mutation	678			11 X 5 AA approximate repeats.			
NUP214	0	broad.mit.edu	GRCh37	9	134016058	134016058	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-32-2632-01	TCGA-32-2632-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359428.5:c.1255C>T	p.Arg419Ter	p.R419*	ENST00000359428	NM_005085.3	419	Cga/Tga	0			1			T	R/*	uc004cag.2	protein_coding	YES	CCDS6940.1			1255/6273	T		DEK|SET|ABL1		AML|T-ALL				breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	c.(1255-1257)CGA>TGA			hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF21	nucleoporin 214kDa				ENSP00000352400		Nov-36									COSM3413389,COSM3413390	Nov-36	.		ENST00000359428	Transcript	1		carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	ENSG00000126883	g.chr9:134016058C>T	8064			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,9,134016058,C,T&fts=all	R419*	--	--	1																																		NUP214_uc004cah.2_Nonsense_Mutation_p.R419*|NUP214_uc004caf.1_Nonsense_Mutation_p.R419*	1,1	1			p.R419*	NM_005085	NP_005076			1,1	NU214_HUMAN	NUP214	HGNC	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	H0YDI2_HUMAN,E9PS86_HUMAN		11	1366	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	UPI00001BBB2F	419					SNV	NUP214,stop_gained,p.Arg419Ter,ENST00000359428,NM_005085.3;NUP214,stop_gained,p.Arg419Ter,ENST00000411637,;NUP214,stop_gained,p.Arg419Ter,ENST00000451030,;NUP214,stop_gained,p.Arg91Ter,ENST00000530863,;RP11-544A12.4,intron_variant,,ENST00000589540,;RP11-544A12.4,intron_variant,,ENST00000586290,;RP11-544A12.4,intron_variant,,ENST00000415391,;RP11-544A12.4,intron_variant,,ENST00000587264,;RP11-544A12.4,intron_variant,,ENST00000590461,;RP11-544A12.4,intron_variant,,ENST00000588378,;RP11-544A12.4,intron_variant,,ENST00000589667,;RP11-544A12.4,intron_variant,,ENST00000587408,;NUP214,downstream_gene_variant,,ENST00000530843,;NUP214,upstream_gene_variant,,ENST00000525980,;	uc004cag.2	c.1255C>T	1399/7600	5	1			c.1255C>T	T		DEK|SET|ABL1		AML|T-ALL	9	SNP	c.(1255-1257)CGA>TGA	11	11			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	Broad	nucleoporin 214kDa			134016058		0.433	ENSG00000126883	10573	g.chr9:134016058C>T	carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	Pancreas(4;24 48 25510 30394 32571)		1058	Pancreas(4;24 48 25510 30394 32571)		1058	137.183676	KEEP	26	20	-1	38	27	26	20	-1	137.78385	38	27	0.419048	1	0	0	0	0	0	1	0	0	--	--		0	T			NUP214_uc004cah.2_Nonsense_Mutation_p.R419*|NUP214_uc004caf.1_Nonsense_Mutation_p.R419*	240	GBM-32-2632-TP	p.R419*	C	AACACCAGAGCGACTTTCATT	NM_005085	NP_005076	134016058	P35658	NU214_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	11	1366	+	T	T	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	Nonsense_Mutation	419						
NUP54	53371	broad.mit.edu	GRCh37	4	77065621	77065621	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-02-2470-01	TCGA-02-2470-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264883.3:c.73T>C	p.Phe25Leu	p.F25L	ENST00000264883	NM_001278603.1	25	Ttt/Ctt	0			1			G	F/L	uc003hjs.2	protein_coding	YES	CCDS3576.1			73/1524									ovary(1)|lung(1)	2	c.(73-75)TTT>CTT			Low_complexity_(Seg):seg,hmmpanther:PTHR13000	nucleoporin 54kDa				ENSP00000264883		12-Feb									COSM3409491	12-Feb	.		ENST00000264883	Transcript			carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm		ENSG00000138750	g.chr4:77065621A>G	17359			MODERATE		1.965	medium	getma.org/?cm=msa&ty=f&p=NUP54_HUMAN&rb=1&re=200&var=F25L	NA	getma.org/?cm=var&var=hg19,4,77065621,A,G&fts=all	F25L	--	--	1																																		NUP54_uc010ije.2_5'UTR|NUP54_uc011cbs.1_5'UTR|NUP54_uc011cbt.1_Missense_Mutation_p.F25L|NUP54_uc003hjt.2_5'UTR	1	1		unknown(0)	p.F25L	NM_017426	NP_059122		deleterious(0)	1	NUP54_HUMAN	NUP54	HGNC	Q7Z3B4	NUP54_HUMAN			Q53H29_HUMAN,E7EUM5_HUMAN		2	201	-			UPI0000036166	25	AGGF -> GWV (in Ref. 1; AAF67488).		Gly-rich.|2.|9 X 2 AA repeats of F-G.		SNV	NUP54,missense_variant,p.Phe25Leu,ENST00000264883,NM_001278603.1,NM_017426.3;NUP54,missense_variant,p.Phe25Leu,ENST00000514987,;NUP54,missense_variant,p.Phe79Leu,ENST00000514901,;NUP54,5_prime_UTR_variant,,ENST00000342467,;NUP54,5_prime_UTR_variant,,ENST00000458189,;NUP54,non_coding_transcript_exon_variant,,ENST00000515460,;NUP54,non_coding_transcript_exon_variant,,ENST00000514307,;NUP54,non_coding_transcript_exon_variant,,ENST00000506098,;NUP54,non_coding_transcript_exon_variant,,ENST00000508583,;NUP54,non_coding_transcript_exon_variant,,ENST00000510569,;NUP54,non_coding_transcript_exon_variant,,ENST00000510884,;NUP54,missense_variant,p.Phe25Leu,ENST00000507257,;NUP54,missense_variant,p.Phe25Leu,ENST00000512151,;NUP54,synonymous_variant,p.=,ENST00000502850,;NUP54,3_prime_UTR_variant,,ENST00000513352,;NUP54,intron_variant,,ENST00000504173,;	uc003hjs.2	c.73T>C	214/2367	4	4			c.73T>C						4	SNP	c.(73-75)TTT>CTT	29	29			ovary(1)|lung(1)	2	Broad	nucleoporin 54kDa			77065621		0.333	ENSG00000138750	10578	g.chr4:77065621A>G	carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm								-25.672126	KEEP	2	1	-1	59	77	2	1	-1	6.368166	59	77	0.023622	1	0	0	0	0	1	0	0	0	--	--		0	G			NUP54_uc010ije.2_5'UTR|NUP54_uc011cbs.1_5'UTR|NUP54_uc011cbt.1_Missense_Mutation_p.F25L|NUP54_uc003hjt.2_5'UTR	5	GBM-02-2470-TP	p.F25L	A	AATCCTCCAAACCCACCTAAT	NM_017426	NP_059122	77065621	Q7Z3B4	NUP54_HUMAN	0			2	201	-	G	G			Missense_Mutation	25	AGGF -> GWV (in Ref. 1; AAF67488).		Gly-rich.|2.|9 X 2 AA repeats of F-G.			
NUP54	0	broad.mit.edu	GRCh37	4	77069476	77069476	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-32-2615-01	TCGA-32-2615-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264883.3:c.52A>C	p.Thr18Pro	p.T18P	ENST00000264883	NM_001278603.1	18	Acc/Ccc	0			1			G	T/P	uc003hjs.2	protein_coding	YES	CCDS3576.1			52/1524									ovary(1)|lung(1)	2	c.(52-54)ACC>CCC			Low_complexity_(Seg):seg,hmmpanther:PTHR13000	nucleoporin 54kDa				ENSP00000264883		12-Jan									COSM3748277	12-Jan	.		ENST00000264883	Transcript			carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm		ENSG00000138750	g.chr4:77069476T>G	17359			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=NUP54_HUMAN&rb=1&re=200&var=T18P	NA	getma.org/?cm=var&var=hg19,4,77069476,T,G&fts=all	T18P	--	--	1																																		NUP54_uc010ije.2_5'UTR|NUP54_uc011cbs.1_5'UTR|NUP54_uc011cbt.1_Missense_Mutation_p.T18P|NUP54_uc003hjt.2_5'UTR	1	1		unknown(0)	p.T18P	NM_017426	NP_059122		deleterious(0.02)	1	NUP54_HUMAN	NUP54	HGNC	Q7Z3B4	NUP54_HUMAN			Q53H29_HUMAN,E7EUM5_HUMAN		1	180	-			UPI0000036166	18			Gly-rich.|9 X 2 AA repeats of F-G.		SNV	NUP54,missense_variant,p.Thr18Pro,ENST00000264883,NM_001278603.1,NM_017426.3;NUP54,missense_variant,p.Thr18Pro,ENST00000514987,;NUP54,missense_variant,p.Thr18Pro,ENST00000514901,;NUP54,5_prime_UTR_variant,,ENST00000342467,;NUP54,5_prime_UTR_variant,,ENST00000458189,;NUP54,non_coding_transcript_exon_variant,,ENST00000515460,;NUP54,non_coding_transcript_exon_variant,,ENST00000508583,;NUP54,upstream_gene_variant,,ENST00000514307,;NUP54,upstream_gene_variant,,ENST00000506098,;NUP54,upstream_gene_variant,,ENST00000510569,;NUP54,upstream_gene_variant,,ENST00000510884,;NUP54,missense_variant,p.Thr18Pro,ENST00000507257,;NUP54,missense_variant,p.Thr18Pro,ENST00000502850,;NUP54,missense_variant,p.Thr18Pro,ENST00000512151,;NUP54,missense_variant,p.Thr18Pro,ENST00000513352,;NUP54,non_coding_transcript_exon_variant,,ENST00000504173,;	uc003hjs.2	c.52A>C	193/2367	3	3			c.52A>C						4	SNP	c.(52-54)ACC>CCC	64	64			ovary(1)|lung(1)	2	Broad	nucleoporin 54kDa			77069476		0.667	ENSG00000138750	10578	g.chr4:77069476T>G	carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm								8.218569	KEEP	0	4	-1	8	4	0	4	-1	8.901092	8	4	0.25	1	0	0	0	0	1	0	0	0	--	--		0	G			NUP54_uc010ije.2_5'UTR|NUP54_uc011cbs.1_5'UTR|NUP54_uc011cbt.1_Missense_Mutation_p.T18P|NUP54_uc003hjt.2_5'UTR	239	GBM-32-2615-TP	p.T18P	T	GGGGCCGCGGTGGCTGCAGCG	NM_017426	NP_059122	77069476	Q7Z3B4	NUP54_HUMAN	0			1	180	-	G	G			Missense_Mutation	18			Gly-rich.|9 X 2 AA repeats of F-G.			
NUP62	23636	broad.mit.edu	GRCh37	19	50411934	50411934	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000596217.1:c.1131C>T	p.Arg377=	p.R377=	ENST00000596217		377	cgC/cgT	0			1			A	R	uc002pqx.2	protein_coding		CCDS12788.1			1131/1569										0	c.(1129-1131)CGC>CGT			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF05064,hmmpanther:PTHR12084:SF2,hmmpanther:PTHR12084	nucleoporin 62kDa				ENSP00000305503		3-Mar									COSM3404470	3-Mar	.		ENST00000352066	Transcript	1		carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	ENSG00000213024	g.chr19:50411934G>A	8066			LOW								--	--	1																																		IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Silent_p.R377R|NUP62_uc002pqz.2_Silent_p.R377R|NUP62_uc002pra.2_Silent_p.R377R|NUP62_uc002prb.2_Silent_p.R377R|NUP62_uc002prc.2_Silent_p.R301R	1				p.R377R	NM_153719	NP_714941			1	NUP62_HUMAN	NUP62	HGNC	P37198	NUP62_HUMAN		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	M0R302_HUMAN,M0R1S1_HUMAN,M0R0B7_HUMAN,M0QZL5_HUMAN,M0QYY0_HUMAN,M0QX64_HUMAN,M0QX41_HUMAN,M0QX13_HUMAN,M0QX10_HUMAN		2	1235	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	UPI000013EAFD	377			Potential.		SNV	NUP62,synonymous_variant,p.=,ENST00000596217,;NUP62,synonymous_variant,p.=,ENST00000422090,NM_001193357.1;NUP62,synonymous_variant,p.=,ENST00000413454,NM_153718.3,NM_012346.4;NUP62,synonymous_variant,p.=,ENST00000352066,NM_016553.4;NUP62,synonymous_variant,p.=,ENST00000597029,;NUP62,synonymous_variant,p.=,ENST00000597723,;IL4I1,intron_variant,,ENST00000595948,NM_001258018.1;IL4I1,intron_variant,,ENST00000341114,NM_001258017.1,NM_172374.2;IL4I1,intron_variant,,ENST00000596022,;IL4I1,intron_variant,,ENST00000596011,;IL4I1,intron_variant,,ENST00000597295,;NUP62,downstream_gene_variant,,ENST00000593652,;NUP62,downstream_gene_variant,,ENST00000596437,;NUP62,downstream_gene_variant,,ENST00000600935,;NUP62,downstream_gene_variant,,ENST00000599567,;NUP62,downstream_gene_variant,,ENST00000600645,;NUP62,downstream_gene_variant,,ENST00000599788,;NUP62,downstream_gene_variant,,ENST00000594673,;NUP62,downstream_gene_variant,,ENST00000595761,;NUP62,downstream_gene_variant,,ENST00000596680,;NUP62,downstream_gene_variant,,ENST00000600583,;NUP62,downstream_gene_variant,,ENST00000595373,;NUP62,downstream_gene_variant,,ENST00000599830,;NUP62,downstream_gene_variant,,ENST00000598301,;NUP62,downstream_gene_variant,,ENST00000595463,;NUP62,downstream_gene_variant,,ENST00000599560,;NUP62,downstream_gene_variant,,ENST00000601665,;NUP62,downstream_gene_variant,,ENST00000597814,;NUP62,downstream_gene_variant,,ENST00000599186,;IL4I1,intron_variant,,ENST00000601717,;CTC-326K19.6,downstream_gene_variant,,ENST00000451973,;	uc002pqx.2	c.1131C>T	1736/2870	2	2			c.1131C>T						19	SNP	c.(1129-1131)CGC>CGT	30	30				0	Broad	nucleoporin 62kDa			50411934		0.612	ENSG00000213024	10579	g.chr19:50411934G>A	carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding							245.745543	KEEP	47	53	-1	98	83	47	53	-1	248.22724	98	83	0.386364	1	0	0	0	0	0	0	1	0	--	--		0	A			IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Silent_p.R377R|NUP62_uc002pqz.2_Silent_p.R377R|NUP62_uc002pra.2_Silent_p.R377R|NUP62_uc002prb.2_Silent_p.R377R|NUP62_uc002prc.2_Silent_p.R301R	8	GBM-02-2486-TP	p.R377R	G	TCTCCACCTCGCGGTGCAGGC	NM_153719	NP_714941	50411934	P37198	NUP62_HUMAN	0		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	2	1235	-	A	A		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	Silent	377			Potential.			
NUP88	0	broad.mit.edu	GRCh37	17	5322843	5322843	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01	TCGA-12-0618-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000573584.1:c.128C>T	p.Ala43Val	p.A43V	ENST00000573584	NM_002532.4	43	gCt/gTt	0			1			A	A/V	uc002gbo.1	protein_coding	YES	CCDS11070.1			128/2226									kidney(1)	1	c.(127-129)GCT>GTT			Pfam_domain:PF10168,hmmpanther:PTHR13257,hmmpanther:PTHR13257:SF0,Low_complexity_(Seg):seg	nucleoporin 88kDa				ENSP00000458954		17-Jan	8.24E-06					1.50E-05			rs775555017,COSM2153587	17-Jan	.		ENST00000573584	Transcript			carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity	ENSG00000108559	g.chr17:5322843G>A	8067			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=NUP88_HUMAN&rb=11&re=741&var=A43V	NA	getma.org/?cm=var&var=hg19,17,5322843,G,A&fts=all	A43V	--	--	1																																		NUP88_uc010vsx.1_Missense_Mutation_p.A43V|NUP88_uc010cle.1_Missense_Mutation_p.A43V|NUP88_uc010vsy.1_Missense_Mutation_p.A43V|RPAIN_uc010vsz.1_5'Flank|RPAIN_uc002gbp.1_5'Flank|RPAIN_uc010vta.1_5'Flank|RPAIN_uc002gbq.2_5'Flank|RPAIN_uc010vtb.1_5'Flank|RPAIN_uc002gbs.2_5'Flank|RPAIN_uc002gbt.2_5'Flank|RPAIN_uc002gbu.2_5'Flank|RPAIN_uc002gbv.2_5'Flank|RPAIN_uc002gbr.2_5'Flank|RPAIN_uc002gbw.2_5'Flank	0,1	1		benign(0.003)	p.A43V	NM_002532	NP_002523		tolerated(0.14)	0,1	NUP88_HUMAN	NUP88	HGNC	Q99567	NUP88_HUMAN			I3L245_HUMAN		1	154	-			UPI0000130894	43					SNV	NUP88,missense_variant,p.Ala43Val,ENST00000573584,NM_002532.4;NUP88,upstream_gene_variant,,ENST00000225696,;RPAIN,upstream_gene_variant,,ENST00000381209,NM_001033002.3;RPAIN,upstream_gene_variant,,ENST00000381208,NM_001160244.1;RPAIN,upstream_gene_variant,,ENST00000405578,NM_001160243.1;RPAIN,upstream_gene_variant,,ENST00000536255,NM_001160246.1;RPAIN,upstream_gene_variant,,ENST00000327154,NM_001160266.1;NUP88,upstream_gene_variant,,ENST00000572809,;RPAIN,upstream_gene_variant,,ENST00000574003,;NUP88,non_coding_transcript_exon_variant,,ENST00000572019,;NUP88,missense_variant,p.Ala43Val,ENST00000572290,;NUP88,non_coding_transcript_exon_variant,,ENST00000574867,;RPAIN,upstream_gene_variant,,ENST00000575112,;RPAIN,upstream_gene_variant,,ENST00000573126,;RPAIN,upstream_gene_variant,,ENST00000571613,;RPAIN,upstream_gene_variant,,ENST00000571043,;RPAIN,upstream_gene_variant,,ENST00000539417,;RPAIN,upstream_gene_variant,,ENST00000571558,;RPAIN,upstream_gene_variant,,ENST00000575599,;RPAIN,upstream_gene_variant,,ENST00000573577,;RPAIN,upstream_gene_variant,,ENST00000570883,;RPAIN,upstream_gene_variant,,ENST00000575711,;RPAIN,upstream_gene_variant,,ENST00000572174,;	uc002gbo.1	c.128C>T	638/2916	1	1			c.128C>T						17	SNP	c.(127-129)GCT>GTT	51	51			kidney(1)	1	Broad	nucleoporin 88kDa			5322843		0.602	ENSG00000108559	10582	g.chr17:5322843G>A	carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			6			6	647.323494	KEEP	104	120	-1	8	6	104	120	-1	682.184697	8	6	0.937799	1	0	0	0	0	1	0	0	0	--	--		0	A			NUP88_uc010vsx.1_Missense_Mutation_p.A43V|NUP88_uc010cle.1_Missense_Mutation_p.A43V|NUP88_uc010vsy.1_Missense_Mutation_p.A43V|RPAIN_uc010vsz.1_5'Flank|RPAIN_uc002gbp.1_5'Flank|RPAIN_uc010vta.1_5'Flank|RPAIN_uc002gbq.2_5'Flank|RPAIN_uc010vtb.1_5'Flank|RPAIN_uc002gbs.2_5'Flank|RPAIN_uc002gbt.2_5'Flank|RPAIN_uc002gbu.2_5'Flank|RPAIN_uc002gbv.2_5'Flank|RPAIN_uc002gbr.2_5'Flank|RPAIN_uc002gbw.2_5'Flank	119	GBM-12-0618-TP	p.A43V	G	CGACGAAGAAGCTGGTTTCTC	NM_002532	NP_002523	5322843	Q99567	NUP88_HUMAN	0			1	154	-	A	A			Missense_Mutation	43						
NUTM1	0	broad.mit.edu	GRCh37	15	34640826	34640826	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs138533937		TCGA-28-5216-01	TCGA-28-5216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333756.4:c.673C>T	p.Arg225Trp	p.R225W	ENST00000333756	NM_175741.1	225	Cgg/Tgg	0	T:0	T:0	1	T:0.0014		T	R/W	uc001zif.2	protein_coding	YES	CCDS32190.1			673/3399	T		BRD3|BRD4		lethal midline carcinoma		BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)		midline_organs(25)|ovary(2)|lung(2)|skin(1)	30	c.(673-675)CGG>TGG			hmmpanther:PTHR22879:SF13,hmmpanther:PTHR22879,Pfam_domain:PF12881	nuclear protein in testis		T:0	T:0.0002	ENSP00000329448	T:0	7-Feb	8.24E-05		8.72E-05			0.000123		6.08E-05	rs138533937,COSM3401685	7-Feb	.		ENST00000333756	Transcript		T:0.0002		cytoplasm|nucleus		ENSG00000184507	g.chr15:34640826C>T	29919			MODERATE		2.56	medium	getma.org/?cm=msa&ty=f&p=NUT_HUMAN&rb=8&re=332&var=R225W	NA	getma.org/?cm=var&var=hg19,15,34640826,C,T&fts=all	R225W	--	--	1																																		C15orf55_uc010ucc.1_Missense_Mutation_p.R253W|C15orf55_uc010ucd.1_Missense_Mutation_p.R243W	0,1	1		benign(0.219)	p.R225W	NM_175741	NP_786883	T:0	tolerated(0.07)	0,1	NUTM1_HUMAN	NUTM1	HGNC	Q86Y26	NUT_HUMAN		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)			2	828	+		all_lung(180;2.78e-08)	UPI000016159A	225					SNV	NUTM1,missense_variant,p.Arg253Trp,ENST00000537011,NM_001284292.1;NUTM1,missense_variant,p.Arg243Trp,ENST00000438749,NM_001284293.1;NUTM1,missense_variant,p.Arg225Trp,ENST00000333756,NM_175741.1;	uc001zif.2	c.673C>T	828/3795	2	2			c.673C>T	T		BRD3|BRD4		lethal midline carcinoma	15	SNP	c.(673-675)CGG>TGG	19	19	BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)		midline_organs(25)|ovary(2)|lung(2)|skin(1)	30	Broad	nuclear protein in testis			34640826		0.483	ENSG00000184507	1765	g.chr15:34640826C>T		cytoplasm|nucleus				408			408	5.54775	KEEP	11	7	-1	94	94	11	7	-1	35.028518	94	94	0.094972	1	0	0	0	0	1	0	0	0	--	--		0	T			C15orf55_uc010ucc.1_Missense_Mutation_p.R253W|C15orf55_uc010ucd.1_Missense_Mutation_p.R243W	223	GBM-28-5216-TP	p.R225W	C	AGCCTTGGCCCGGAGGCACCT	NM_175741	NP_786883	34640826	Q86Y26	NUT_HUMAN	0		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)	2	828	+	T	T		all_lung(180;2.78e-08)	Missense_Mutation	225						
NUTM2F	0	broad.mit.edu	GRCh37	9	97081002	97081002	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-19-2631-01	TCGA-19-2631-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000253262.4:c.2016C>A	p.Pro672=	p.P672=	ENST00000253262	NM_017561.1	672	ccC/ccA	0			1			T	P	uc004aup.1	protein_coding	YES	CCDS47994.1			2016/2271										0	c.(2014-2016)CCC>CCA			Pfam_domain:PF12882,hmmpanther:PTHR22879,hmmpanther:PTHR22879:SF12,Low_complexity_(Seg):seg	hypothetical protein LOC54754				ENSP00000253262		7-Jul									COSM3413849,COSM3413848	7-Jul	.		ENST00000253262	Transcript						ENSG00000130950	g.chr9:97081002G>T	23450			LOW								--	--	1																																			1,1	1			p.P672P	NM_017561	NP_060031			1,1	NTM2F_HUMAN	NUTM2F	HGNC	A1L443	FA22F_HUMAN					7	2037	-		Acute lymphoblastic leukemia(62;0.136)	UPI00001D771D	672					SNV	NUTM2F,synonymous_variant,p.=,ENST00000253262,NM_017561.1;NUTM2F,synonymous_variant,p.=,ENST00000341207,;NUTM2F,intron_variant,,ENST00000335456,;	uc004aup.1	c.2016C>A	2037/2561	2	2			c.2016C>A						9	SNP	c.(2014-2016)CCC>CCA	20	20				0	Broad	hypothetical protein LOC54754			97081002		0.607	ENSG00000130950	5451	g.chr9:97081002G>T										8.991706	KEEP	0	4	-1	11	10	0	4	-1	10.081146	11	10	0.235294	1	0	0	0	0	0	0	1	0	--	--		0	T				167	GBM-19-2631-TP	p.P672P	G	GAGCTCCCTGGGGTCCTCTCC	NM_017561	NP_060031	97081002	A1L443	FA22F_HUMAN	0			7	2037	-	T	T		Acute lymphoblastic leukemia(62;0.136)	Silent	672						
NVL	0	broad.mit.edu	GRCh37	1	224514105	224514105	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-2623-01	TCGA-19-2623-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281701.6:c.119A>G	p.Gln40Arg	p.Q40R	ENST00000281701	NM_002533.3	40	cAa/cGa	0			1			C	Q/R	uc001hok.2	protein_coding	YES	CCDS1541.1			119/2571									skin(2)	2	c.(118-120)CAA>CGA				nuclear VCP-like isoform 1				ENSP00000281701		23-Feb									COSM3400361	23-Feb	.		ENST00000281701	Transcript				aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity	ENSG00000143748	g.chr1:224514105T>C	8070			MODERATE		1.93	medium	getma.org/?cm=msa&ty=f&p=NVL_HUMAN&rb=1&re=200&var=Q40R	getma.org/pdb.php?prot=NVL_HUMAN&from=1&to=200&var=Q40R	getma.org/?cm=var&var=hg19,1,224514105,T,C&fts=all	Q40R	--	--	1																																		NVL_uc001hol.2_Intron|NVL_uc010pvd.1_Missense_Mutation_p.Q40R|NVL_uc010pve.1_Intron|NVL_uc010pvf.1_Intron|NVL_uc010pvg.1_Missense_Mutation_p.Q40R	1	1		possibly_damaging(0.905)	p.Q40R	NM_002533	NP_002524		deleterious(0)	1	NVL_HUMAN	NVL	HGNC	O15381	NVL_HUMAN		GBM - Glioblastoma multiforme(131;0.00501)	Q96PA2_HUMAN		2	162	-			UPI0000073F3E	40					SNV	NVL,missense_variant,p.Gln40Arg,ENST00000281701,NM_002533.3;NVL,missense_variant,p.Gln40Arg,ENST00000469075,NM_001243147.1;NVL,missense_variant,p.Gln40Arg,ENST00000461546,;NVL,missense_variant,p.Gln40Arg,ENST00000488718,;NVL,intron_variant,,ENST00000391875,NM_206840.2;NVL,intron_variant,,ENST00000469968,;NVL,intron_variant,,ENST00000482491,;NVL,intron_variant,,ENST00000340871,NM_001243146.1;NVL,intron_variant,,ENST00000361463,;NVL,intron_variant,,ENST00000436927,;NVL,intron_variant,,ENST00000492281,;NVL,non_coding_transcript_exon_variant,,ENST00000468673,;NVL,intron_variant,,ENST00000461466,;NVL,intron_variant,,ENST00000487758,;NVL,intron_variant,,ENST00000470903,;NVL,intron_variant,,ENST00000468088,;NVL,missense_variant,p.Gln40Arg,ENST00000467882,;NVL,missense_variant,p.Gln40Arg,ENST00000470989,;	uc001hok.2	c.119A>G	379/3123	3	3			c.119A>G						1	SNP	c.(118-120)CAA>CGA	61	61			skin(2)	2	Broad	nuclear VCP-like isoform 1			224514105		0.318	ENSG00000143748	10591	g.chr1:224514105T>C		aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity							195.914902	KEEP	40	39	-1	58	61	40	39	-1	198.265293	58	61	0.369427	1	0	0	0	0	1	0	0	0	--	--		0	C			NVL_uc001hol.2_Intron|NVL_uc010pvd.1_Missense_Mutation_p.Q40R|NVL_uc010pve.1_Intron|NVL_uc010pvf.1_Intron|NVL_uc010pvg.1_Missense_Mutation_p.Q40R	163	GBM-19-2623-TP	p.Q40R	T	GTACACTCTTTGTAAATCAGA	NM_002533	NP_002524	224514105	O15381	NVL_HUMAN	0		GBM - Glioblastoma multiforme(131;0.00501)	2	162	-	C	C			Missense_Mutation	40						
NWD1	284434	broad.mit.edu	GRCh37	19	16883984	16883984	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs139109286	by1000genomes	TCGA-06-5414-01	TCGA-06-5414-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000524140.2:c.2458G>A	p.Ala820Thr	p.A820T	ENST00000524140	NM_001007525.3	820	Gcc/Acc	0	A:0.0002	A:0.0008	1	A:0		A	A/T	uc002neu.3	protein_coding					2458/4695									skin(3)|ovary(2)|pancreas(2)	7	c.(2458-2460)GCC>ACC			hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF273	RecName: Full=NACHT and WD repeat domain-containing protein 1;		A:0	A:0	ENSP00000447224	A:0	18-Sep	2.47E-05	0.000193						6.06E-05	rs139109286,COSM3403895,COSM3403894	18-Sep	.		ENST00000552788	Transcript		A:0.0002			ATP binding	ENSG00000188039	g.chr19:16883984G>A	27619			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=NWD1_HUMAN&rb=720&re=838&var=A820T	NA	getma.org/?cm=var&var=hg19,19,16883984,G,A&fts=all	A820T	--	--	1																																		NWD1_uc002net.3_Missense_Mutation_p.A685T|NWD1_uc002nev.3_Missense_Mutation_p.A614T	0,1,1			benign(0.002)	p.A820T			A:0	tolerated(0.09)	0,1,1	NWD1_HUMAN	NWD1	HGNC	Q149M9	NWD1_HUMAN			E9PBV1_HUMAN		11	2880	+			UPI0001AE63B7	820					SNV	NWD1,missense_variant,p.Ala820Thr,ENST00000524140,NM_001007525.3;NWD1,missense_variant,p.Ala820Thr,ENST00000552788,;NWD1,missense_variant,p.Ala820Thr,ENST00000549814,;NWD1,missense_variant,p.Ala614Thr,ENST00000523826,;NWD1,missense_variant,p.Ala820Thr,ENST00000379808,;NWD1,missense_variant,p.Ala685Thr,ENST00000339803,;NWD1,3_prime_UTR_variant,,ENST00000518676,;NWD1,3_prime_UTR_variant,,ENST00000438489,;	uc002neu.3	c.2458G>A	2458/6964	2	2			c.2458G>A						19	SNP	c.(2458-2460)GCC>ACC	28	28			skin(3)|ovary(2)|pancreas(2)	7	Broad	RecName: Full=NACHT and WD repeat domain-containing protein 1;			16883984		0.577	ENSG00000188039	10592	g.chr19:16883984G>A			ATP binding							114.136159	KEEP	23	29	-1	79	78	23	29	-1	124.294381	79	78	0.254054	1	0	0	0	0	1	0	0	0	--	--		0	A			NWD1_uc002net.3_Missense_Mutation_p.A685T|NWD1_uc002nev.3_Missense_Mutation_p.A614T	97	GBM-06-5414-TP	p.A820T	G	CCATTTCTTCGCCACCTCACA			16883984	Q149M9	NWD1_HUMAN	0			11	2880	+	A	A			Missense_Mutation	820						
NWD1	0	broad.mit.edu	GRCh37	19	16860196	16860196	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-5136-01	TCGA-26-5136-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000552788.1:c.743G>A	p.Arg248His	p.R248H	ENST00000552788		248	cGc/cAc	0			1			A	R/H	uc002neu.3	protein_coding					743/4695									skin(3)|ovary(2)|pancreas(2)	7	c.(742-744)CGC>CAC			hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF273	RecName: Full=NACHT and WD repeat domain-containing protein 1;				ENSP00000447224		18-Apr	2.47E-05		8.65E-05					0.000122	rs753810178,COSM2157129,COSM2157128	18-Apr	.		ENST00000552788	Transcript					ATP binding	ENSG00000188039	g.chr19:16860196G>A	27619			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=NWD1_HUMAN&rb=201&re=334&var=R248H	NA	getma.org/?cm=var&var=hg19,19,16860196,G,A&fts=all	R248H	--	--	1																																		NWD1_uc002net.3_Missense_Mutation_p.R113H|NWD1_uc002nev.3_Missense_Mutation_p.R42H	0,1,1			benign(0.017)	p.R248H				deleterious(0.01)	0,1,1	NWD1_HUMAN	NWD1	HGNC	Q149M9	NWD1_HUMAN			E9PBV1_HUMAN		6	1165	+			UPI0001AE63B7	248					SNV	NWD1,missense_variant,p.Arg248His,ENST00000524140,NM_001007525.3;NWD1,missense_variant,p.Arg248His,ENST00000552788,;NWD1,missense_variant,p.Arg248His,ENST00000549814,;NWD1,missense_variant,p.Arg42His,ENST00000523826,;NWD1,missense_variant,p.Arg248His,ENST00000379808,;NWD1,missense_variant,p.Arg113His,ENST00000339803,;NWD1,3_prime_UTR_variant,,ENST00000518676,;NWD1,3_prime_UTR_variant,,ENST00000438489,;	uc002neu.3	c.743G>A	743/6964	2	2			c.743G>A						19	SNP	c.(742-744)CGC>CAC	38	38			skin(3)|ovary(2)|pancreas(2)	7	Broad	RecName: Full=NACHT and WD repeat domain-containing protein 1;			16860196		0.597	ENSG00000188039	10592	g.chr19:16860196G>A			ATP binding							152.586735	KEEP	40	42	-1	17	29	40	42	-1	155.086006	17	29	0.7	1	0	0	0	0	1	0	0	0	--	--		0	A			NWD1_uc002net.3_Missense_Mutation_p.R113H|NWD1_uc002nev.3_Missense_Mutation_p.R42H	185	GBM-26-5136-TP	p.R248H	G	CCGTGGAGCCGCGACTTGGTG			16860196	Q149M9	NWD1_HUMAN	0			6	1165	+	A	A			Missense_Mutation	248						
NWD1	0	broad.mit.edu	GRCh37	19	16874718	16874718	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs111332125		TCGA-27-2526-01	TCGA-27-2526-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000552788.1:c.2213A>G	p.His738Arg	p.H738R	ENST00000552788		738	cAc/cGc	0			1			G	H/R	uc002neu.3	protein_coding					2213/4695									skin(3)|ovary(2)|pancreas(2)	7	c.(2212-2214)CAC>CGC			hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF273	RecName: Full=NACHT and WD repeat domain-containing protein 1;				ENSP00000447224		18-Jul									rs111332125,COSM3284954,COSM3284953	18-Jul	.		ENST00000552788	Transcript					ATP binding	ENSG00000188039	g.chr19:16874718A>G	27619			MODERATE		1.415	low	getma.org/?cm=msa&ty=f&p=NWD1_HUMAN&rb=720&re=838&var=H738R	NA	getma.org/?cm=var&var=hg19,19,16874718,A,G&fts=all	H738R	--	--	1																																		NWD1_uc002net.3_Missense_Mutation_p.H603R|NWD1_uc002nev.3_Missense_Mutation_p.H532R	0,1,1			benign(0.006)	p.H738R				tolerated(0.07)	0,1,1	NWD1_HUMAN	NWD1	HGNC	Q149M9	NWD1_HUMAN			E9PBV1_HUMAN		9	2635	+			UPI0001AE63B7	738					SNV	NWD1,missense_variant,p.His738Arg,ENST00000524140,NM_001007525.3;NWD1,missense_variant,p.His738Arg,ENST00000552788,;NWD1,missense_variant,p.His738Arg,ENST00000549814,;NWD1,missense_variant,p.His532Arg,ENST00000523826,;NWD1,missense_variant,p.His738Arg,ENST00000379808,;NWD1,missense_variant,p.His603Arg,ENST00000339803,;NWD1,3_prime_UTR_variant,,ENST00000518676,;NWD1,3_prime_UTR_variant,,ENST00000438489,;	uc002neu.3	c.2213A>G	2213/6964	3	3			c.2213A>G						19	SNP	c.(2212-2214)CAC>CGC	8	8			skin(3)|ovary(2)|pancreas(2)	7	Broad	RecName: Full=NACHT and WD repeat domain-containing protein 1;			16874718		0.612	ENSG00000188039	10592	g.chr19:16874718A>G			ATP binding							112.957665	KEEP	24	19	-1	39	33	24	19	-1	114.340387	39	33	0.373737	1	0	0	0	0	1	0	0	0	--	--		0	G			NWD1_uc002net.3_Missense_Mutation_p.H603R|NWD1_uc002nev.3_Missense_Mutation_p.H532R	203	GBM-27-2526-TP	p.H738R	A	CACCTGCTTCACTCGGGCCGC			16874718	Q149M9	NWD1_HUMAN	0			9	2635	+	G	G			Missense_Mutation	738						
NXF1	0	broad.mit.edu	GRCh37	11	62561731	62561731	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C			TCGA-27-1833-01	TCGA-27-1833-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294172.2:c.1759A>G	p.Lys587Glu	p.K587E	ENST00000294172	NM_006362.4	587	Aag/Gag	0			1			C	K/E	uc001nvf.1	protein_coding		CCDS8037.1			1759/1860									skin(3)	3	c.(1759-1761)AAG>GAG			PROSITE_profiles:PS51281,hmmpanther:PTHR10662,hmmpanther:PTHR10662:SF27,Pfam_domain:PF03943,Gene3D:1.10.8.10,SMART_domains:SM00804,Superfamily_domains:SSF46934	nuclear RNA export factor 1 isoform 1				ENSP00000294172		19/21									COSM3397996	19/21	.		ENST00000294172	Transcript			gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	ENSG00000162231	g.chr11:62561731T>C	8071			MODERATE		2.635	medium	getma.org/?cm=msa&ty=f&p=NXF1_HUMAN&rb=568&re=618&var=K587E	getma.org/pdb.php?prot=NXF1_HUMAN&from=568&to=618&var=K587E	getma.org/?cm=var&var=hg19,11,62561731,T,C&fts=all	K587E	--	--	1																																		TMEM223_uc001nve.2_5'Flank|NXF1_uc001nvg.1_3'UTR|NXF1_uc009yog.1_3'UTR	1			probably_damaging(0.967)	p.K587E	NM_006362	NP_006353		deleterious(0)	1	NXF1_HUMAN	NXF1	HGNC	Q9UBU9	NXF1_HUMAN			Q68CW9_HUMAN,E9PMV7_HUMAN,E9PLA7_HUMAN		19	1895	-			UPI00000012B9	587			TAP-C.		SNV	NXF1,missense_variant,p.Lys587Glu,ENST00000532297,;NXF1,missense_variant,p.Lys587Glu,ENST00000294172,NM_006362.4;NXF1,missense_variant,p.Lys92Glu,ENST00000527902,;NXF1,splice_region_variant,,ENST00000531709,NM_001081491.1;NXF1,downstream_gene_variant,,ENST00000530875,;TMEM223,upstream_gene_variant,,ENST00000307366,NM_001080501.2;TMEM179B,downstream_gene_variant,,ENST00000333449,NM_199337.2;TMEM223,upstream_gene_variant,,ENST00000528367,;TMEM179B,downstream_gene_variant,,ENST00000533861,;TMEM223,upstream_gene_variant,,ENST00000525631,;TMEM179B,downstream_gene_variant,,ENST00000526546,;NXF1,splice_region_variant,,ENST00000533048,;NXF1,downstream_gene_variant,,ENST00000531579,;NXF1,downstream_gene_variant,,ENST00000526163,;TMEM223,upstream_gene_variant,,ENST00000527073,;NXF1,splice_region_variant,,ENST00000533499,;NXF1,splice_region_variant,,ENST00000527497,;TMEM179B,downstream_gene_variant,,ENST00000532345,;TMEM179B,downstream_gene_variant,,ENST00000532586,;NXF1,downstream_gene_variant,,ENST00000533440,;NXF1,downstream_gene_variant,,ENST00000531872,;	uc001nvf.1	c.1759A>G	1895/2346	3	3			c.1759A>G						11	SNP	c.(1759-1761)AAG>GAG	60	60			skin(3)	3	Broad	nuclear RNA export factor 1 isoform 1			62561731		0.493	ENSG00000162231	10593	g.chr11:62561731T>C	gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding							136.835039	KEEP	18	26	-1	29	34	18	26	-1	137.356155	29	34	0.419355	1	0	0	0	0	1	0	0	0	--	--		0	C			TMEM223_uc001nve.2_5'Flank|NXF1_uc001nvg.1_3'UTR|NXF1_uc009yog.1_3'UTR	192	GBM-27-1833-TP	p.K587E	T	CGCACTCACTTCTGGGACCAC	NM_006362	NP_006353	62561731	Q9UBU9	NXF1_HUMAN	0			19	1895	-	C	C			Missense_Mutation	587			TAP-C.			
NXF3	0	broad.mit.edu	GRCh37	X	102339283	102339283	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-12-0821-01	TCGA-12-0821-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395065.3:c.338G>C	p.Trp113Ser	p.W113S	ENST00000395065	NM_022052.1	113	tGg/tCg	0			1			G	W/S	uc004eju.2	protein_coding	YES	CCDS14503.1			338/1596									ovary(1)|lung(1)|central_nervous_system(1)	3	c.(337-339)TGG>TCG			Gene3D:3.30.70.330,Pfam_domain:PF09162,hmmpanther:PTHR10662,hmmpanther:PTHR10662:SF12,Superfamily_domains:SSF54928	nuclear RNA export factor 3				ENSP00000378504		20-Mar									COSM3405790	20-Mar	.		ENST00000395065	Transcript				cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	ENSG00000147206	g.chrX:102339283C>G	8073			MODERATE		2.82	medium	getma.org/?cm=msa&ty=f&p=NXF3_HUMAN&rb=107&re=194&var=W113S	getma.org/pdb.php?prot=NXF3_HUMAN&from=107&to=194&var=W113S	getma.org/?cm=var&var=hg19,X,102339283,C,G&fts=all	W113S	--	--	1																																		NXF3_uc010noi.1_5'Flank|NXF3_uc011mrw.1_Missense_Mutation_p.W113S|NXF3_uc011mrx.1_Missense_Mutation_p.W24S	1	1		probably_damaging(0.991)	p.W113S	NM_022052	NP_071335		deleterious(0)	1	NXF3_HUMAN	NXF3	HGNC	Q9H4D5	NXF3_HUMAN					3	409	-			UPI00000015F8	113			RRM.		SNV	NXF3,missense_variant,p.Trp113Ser,ENST00000395065,NM_022052.1;NXF3,missense_variant,p.Trp24Ser,ENST00000425463,;NXF3,5_prime_UTR_variant,,ENST00000425644,;NXF3,upstream_gene_variant,,ENST00000427570,;NXF3,upstream_gene_variant,,ENST00000497850,;NXF3,upstream_gene_variant,,ENST00000470724,;NXF3,upstream_gene_variant,,ENST00000460791,;NXF3,upstream_gene_variant,,ENST00000494300,;NXF3,upstream_gene_variant,,ENST00000468528,;LL0XNC01-221F2.2,upstream_gene_variant,,ENST00000440243,;	uc004eju.2	c.338G>C	440/1938	3	3			c.338G>C						23	SNP	c.(337-339)TGG>TCG	57	57			ovary(1)|lung(1)|central_nervous_system(1)	3	Broad	nuclear RNA export factor 3			102339283		0.463	ENSG00000147206	10594	g.chrX:102339283C>G		cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding							31.658852	KEEP	15	12	-1	136	59	15	12	-1	57.564995	136	59	0.126316	1	0	0	0	0	1	0	0	0	--	--		0	G			NXF3_uc010noi.1_5'Flank|NXF3_uc011mrw.1_Missense_Mutation_p.W113S|NXF3_uc011mrx.1_Missense_Mutation_p.W24S	123	GBM-12-0821-TP	p.W113S	C	GATCTTGAACCAGCTCCCTAA	NM_022052	NP_071335	102339283	Q9H4D5	NXF3_HUMAN	0			3	409	-	G	G			Missense_Mutation	113			RRM.			
NXF3	0	broad.mit.edu	GRCh37	X	102337213	102337213	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01	TCGA-28-1753-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395065.3:c.860C>T	p.Thr287Met	p.T287M	ENST00000395065	NM_022052.1	287	aCg/aTg	0			1			A	T/M	uc004eju.2	protein_coding	YES	CCDS14503.1			860/1596									ovary(1)|lung(1)|central_nervous_system(1)	3	c.(859-861)ACG>ATG			hmmpanther:PTHR10662,hmmpanther:PTHR10662:SF12	nuclear RNA export factor 3				ENSP00000378504		20-Sep	1.65E-05	0.000235							rs764974230,COSM3405789	20-Sep	.		ENST00000395065	Transcript				cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	ENSG00000147206	g.chrX:102337213G>A	8073			MODERATE		1.65	low	getma.org/?cm=msa&ty=f&p=NXF3_HUMAN&rb=195&re=343&var=T287M	getma.org/pdb.php?prot=NXF3_HUMAN&from=195&to=343&var=T287M	getma.org/?cm=var&var=hg19,X,102337213,G,A&fts=all	T287M	--	--	1																																		NXF3_uc010noi.1_Missense_Mutation_p.T137M|NXF3_uc011mrw.1_Missense_Mutation_p.T287M|NXF3_uc011mrx.1_Missense_Mutation_p.T198M	0,1	1		possibly_damaging(0.899)	p.T287M	NM_022052	NP_071335		deleterious(0.05)	0,1	NXF3_HUMAN	NXF3	HGNC	Q9H4D5	NXF3_HUMAN					9	931	-			UPI00000015F8	287					SNV	NXF3,missense_variant,p.Thr287Met,ENST00000395065,NM_022052.1;NXF3,missense_variant,p.Thr198Met,ENST00000425463,;NXF3,missense_variant,p.Thr164Met,ENST00000427570,;NXF3,5_prime_UTR_variant,,ENST00000425644,;NXF3,non_coding_transcript_exon_variant,,ENST00000460791,;NXF3,upstream_gene_variant,,ENST00000497850,;NXF3,upstream_gene_variant,,ENST00000470724,;NXF3,upstream_gene_variant,,ENST00000494300,;NXF3,upstream_gene_variant,,ENST00000468528,;LL0XNC01-221F2.2,upstream_gene_variant,,ENST00000440243,;	uc004eju.2	c.860C>T	962/1938	1	1			c.860C>T						23	SNP	c.(859-861)ACG>ATG	49	49			ovary(1)|lung(1)|central_nervous_system(1)	3	Broad	nuclear RNA export factor 3			102337213		0.542	ENSG00000147206	10594	g.chrX:102337213G>A		cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding							442.328666	KEEP	74	76	-1	32	59	74	76	-1	445.613386	32	59	0.633333	1	0	0	0	0	1	0	0	0	--	--		0	A			NXF3_uc010noi.1_Missense_Mutation_p.T137M|NXF3_uc011mrw.1_Missense_Mutation_p.T287M|NXF3_uc011mrx.1_Missense_Mutation_p.T198M	207	GBM-28-1753-TP	p.T287M	G	CGAGAAGGTCGTGCACACTGG	NM_022052	NP_071335	102337213	Q9H4D5	NXF3_HUMAN	0			9	931	-	A	A			Missense_Mutation	287						
NXF5	0	broad.mit.edu	GRCh37	X	101096651	101096651	+	frameshift_variant,NMD_transcript_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-27-1836-01	TCGA-27-1836-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263032.1:c.235delC	p.Gln79LysfsTer16	p.Q79Kfs*16	ENST00000263032		79	Caa/aa	0			1			-	Q/X	uc011mrk.1	nonsense_mediated_decay					235/1194									central_nervous_system(1)	1	c.(235-237)CAAfs			hmmpanther:PTHR10662:SF26,hmmpanther:PTHR10662,Pfam_domain:PF09162,Gene3D:3.30.70.330,Superfamily_domains:SSF54928	nuclear RNA export factor 5				ENSP00000263032		19-May										19-May	.		ENST00000263032	Transcript			mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	ENSG00000126952	g.chrX:101096651delG	8075			HIGH								--	--	1																																		NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_RNA|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_Intron|NXF5_uc004eil.1_Intron					p.Q79fs	NM_032946	NP_116564				NXF5_HUMAN	NXF5	HGNC	Q9H1B4	NXF5_HUMAN					5	595	-			UPI0000130AB2	79			RRM.		deletion	NXF5,frameshift_variant,p.Gln79LysfsTer16,ENST00000537026,NM_032946.2;NXF5,frameshift_variant,p.Gln79LysfsTer16,ENST00000361708,;NXF5,frameshift_variant,p.Gln79LysfsTer16,ENST00000473265,;NXF5,frameshift_variant,p.Gln79LysfsTer16,ENST00000263032,;NXF5,frameshift_variant,p.Gln79LysfsTer16,ENST00000372803,;NXF5,frameshift_variant,p.Gln79LysfsTer16,ENST00000493509,;NXF5,intron_variant,,ENST00000332614,;NXF5,intron_variant,,ENST00000361330,;	uc011mrk.1	c.235delC	595/2062	5	5			c.235delC						23	DEL	c.(235-237)CAAfs	21	21			central_nervous_system(1)	1	Broad	nuclear RNA export factor 5			101096651		0.488	ENSG00000126952	10595	g.chrX:101096651delG	mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding																				0.28	1	1	0	1	0	0	0	0	0	--	--		0	-			NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_RNA|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_Intron|NXF5_uc004eil.1_Intron	195	GBM-27-1836-TP	p.Q79fs	G	CACACCTTTTGGTTCTCATCA	NM_032946	NP_116564	101096651	Q9H1B4	NXF5_HUMAN	0			5	595	-	-	-			Frame_Shift_Del	79			RRM.			
NXN	64359		GRCh37	17	708351	708351	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000336868.3:c.957C>T	p.Asn319=	p.N319=	ENST00000336868	NM_022463.4	319	aaC/aaT	0																																																																																																																																																																																																																																												
NXNL2	158046	broad.mit.edu	GRCh37	9	91150637	91150637	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0154-01	TCGA-06-0154-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375854.3:c.288C>T	p.His96=	p.H96=	ENST00000375854	NM_001161625.1	96	caC/caT	0			1			T	H	uc011ltj.1	protein_coding	YES	CCDS55325.1			288/471										0	c.(286-288)CAC>CAT			Gene3D:3.40.30.10,Pfam_domain:PF13905,hmmpanther:PTHR13871,hmmpanther:PTHR13871:SF24,Superfamily_domains:SSF52833	nucleoredoxin-like 2 isoform 1				ENSP00000365014		2-Jan									COSM3413802,COSM3413801	2-Jan	.		ENST00000375854	Transcript						ENSG00000130045	g.chr9:91150637C>T	30482			LOW								--	--	1																																		NXNL2_uc004aqa.2_Silent_p.H96H	1,1	1			p.H96H	NM_001161625	NP_001155097			1,1	NXNL2_HUMAN	NXNL2	HGNC	Q5VZ03	NXNL2_HUMAN					1	622	+			UPI00004588E9	96			Thioredoxin.		SNV	NXNL2,synonymous_variant,p.=,ENST00000375855,NM_145283.2;NXNL2,synonymous_variant,p.=,ENST00000375854,NM_001161625.1;NXNL2,non_coding_transcript_exon_variant,,ENST00000487646,;NXNL2,non_coding_transcript_exon_variant,,ENST00000478686,;	uc011ltj.1	c.288C>T	622/805	1	1			c.288C>T						9	SNP	c.(286-288)CAC>CAT	3	3				0	Broad	nucleoredoxin-like 2 isoform 1			91150637		0.602	ENSG00000130045	10598	g.chr9:91150637C>T										-0.805428	KEEP	0	3	-1	23	22	0	3	-1	6.872872	23	22	0.073171	1	0	0	0	0	0	0	1	0	--	--		0	T			NXNL2_uc004aqa.2_Silent_p.H96H	26	GBM-06-0154-TP	p.H96H	C	TGCCCTTCCACGACCCCTACC	NM_001161625	NP_001155097	91150637	Q5VZ03	NXNL2_HUMAN	0			1	622	+	T	T			Silent	96			Thioredoxin.			
NXPE1	0	broad.mit.edu	GRCh37	11	114400948	114400948	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs150857743	byFrequency	TCGA-28-1747-01	TCGA-28-1747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000424269.1:c.782G>A	p.Arg261Gln	p.R261Q	ENST00000424269		261	cGg/cAg	0	T:0.0007		1			T	R/Q	uc001ppa.2	protein_coding					782/1644										0	c.(355-357)CGG>CAG			Pfam_domain:PF06312,hmmpanther:PTHR16165,hmmpanther:PTHR16165:SF4	hypothetical protein LOC120400			T:0	ENSP00000411690		5-Feb	0.000222	9.62E-05	0.000432			4.52E-05		0.00113	rs150857743,COSM3397425,COSM3397426	5-Feb	common_variant		ENST00000424269	Transcript				extracellular region		ENSG00000095110	g.chr11:114400948C>T	28527			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=FA55A_HUMAN&rb=72&re=279&var=R261Q	NA	getma.org/?cm=var&var=hg19,11,114400948,C,T&fts=all	R261Q	--	--	1																																		FAM55A_uc010rxd.1_5'UTR|FAM55A_uc001ppb.1_Missense_Mutation_p.R261Q	0,1,1			benign(0.023)	p.R119Q	NM_152315	NP_689528		tolerated(0.14)	0,1,1	NXPE1_HUMAN	NXPE1	HGNC	Q8N323	FA55A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)	G3V1T0_HUMAN,F5H259_HUMAN,F5H0Y6_HUMAN		3	773	-		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	UPI000004BF11	261					SNV	NXPE1,missense_variant,p.Arg261Gln,ENST00000536312,;NXPE1,missense_variant,p.Arg261Gln,ENST00000424269,;NXPE1,missense_variant,p.Arg119Gln,ENST00000251921,NM_152315.2;NXPE1,upstream_gene_variant,,ENST00000536271,;NXPE1,downstream_gene_variant,,ENST00000539878,;NXPE1,downstream_gene_variant,,ENST00000534921,;snoU13,downstream_gene_variant,,ENST00000459372,;	uc001ppa.2	c.356G>A	782/1896	2	2			c.356G>A						11	SNP	c.(355-357)CGG>CAG	43	43				0	Broad	hypothetical protein LOC120400			114400948		0.458	ENSG00000095110	5489	g.chr11:114400948C>T		extracellular region								-3.619641	KEEP	10	3	-1	84	83	10	3	-1	28.161972	84	83	0.071429	1	0	0	0	0	1	0	0	0	--	--		0	T			FAM55A_uc010rxd.1_5'UTR|FAM55A_uc001ppb.1_Missense_Mutation_p.R261Q	206	GBM-28-1747-TP	p.R119Q	C	CTCTCTATTCCGGGTGGTCAT	NM_152315	NP_689528	114400948	Q8N323	FA55A_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)	3	773	-	T	T		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	Missense_Mutation	261						
NXPE3	0	broad.mit.edu	GRCh37	3	101520152	101520152	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273347.5:c.167G>A	p.Gly56Glu	p.G56E	ENST00000273347	NM_145037.2	56	gGa/gAa	0			1			A	G/E	uc003dvn.2	protein_coding		CCDS2945.1			167/1680									ovary(1)|pancreas(1)|skin(1)	3	c.(166-168)GGA>GAA			hmmpanther:PTHR16165:SF1,hmmpanther:PTHR16165	hypothetical protein LOC91775 precursor				ENSP00000273347		8-May									COSM3408083	8-May	.		ENST00000273347	Transcript				extracellular region		ENSG00000144815	g.chr3:101520152G>A	28238			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=FA55C_HUMAN&rb=1&re=72&var=G56E	NA	getma.org/?cm=var&var=hg19,3,101520152,G,A&fts=all	G56E	--	--	1																																		FAM55C_uc010hpn.2_Missense_Mutation_p.G56E	1			benign(0.004)	p.G56E	NM_145037	NP_659474		tolerated(0.89)	1	NXPE3_HUMAN	NXPE3	HGNC	Q969Y0	FA55C_HUMAN			C9K0A9_HUMAN		5	804	+			UPI000006D090	56					SNV	NXPE3,missense_variant,p.Gly56Glu,ENST00000422132,;NXPE3,missense_variant,p.Gly56Glu,ENST00000491511,NM_001134456.1;NXPE3,missense_variant,p.Gly56Glu,ENST00000273347,NM_145037.2;NXPE3,missense_variant,p.Gly56Glu,ENST00000477909,;NXPE3,downstream_gene_variant,,ENST00000474165,;	uc003dvn.2	c.167G>A	759/3941	1	1			c.167G>A						3	SNP	c.(166-168)GGA>GAA	57	57			ovary(1)|pancreas(1)|skin(1)	3	Broad	hypothetical protein LOC91775 precursor			101520152		0.522	ENSG00000144815	5490	g.chr3:101520152G>A		extracellular region								22.708141	KEEP	19	22	-1	175	179	19	22	-1	80.934606	175	179	0.099448	1	0	0	0	0	1	0	0	0	--	--		0	A			FAM55C_uc010hpn.2_Missense_Mutation_p.G56E	197	GBM-27-1838-TP	p.G56E	G	CAGGTGACAGGAATTAGCCGA	NM_145037	NP_659474	101520152	Q969Y0	FA55C_HUMAN	0			5	804	+	A	A			Missense_Mutation	56						
NXPE4	0	broad.mit.edu	GRCh37	11	114453106	114453106	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-12-1597-01	TCGA-12-1597-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375478.3:c.734G>T	p.Arg245Met	p.R245M	ENST00000375478	NM_001077639.1	245	aGg/aTg	0			1			A	R/M	uc001ppc.2	protein_coding	YES	CCDS41718.1			734/1635									ovary(2)|skin(2)	4	c.(733-735)AGG>ATG			hmmpanther:PTHR16165,hmmpanther:PTHR16165:SF3,Pfam_domain:PF06312	hypothetical protein LOC54827 isoform 1				ENSP00000364627		6-Mar									COSM3397427	6-Mar	.		ENST00000375478	Transcript				extracellular region		ENSG00000137634	g.chr11:114453106C>A	23117			MODERATE		2.47	medium	getma.org/?cm=msa&ty=f&p=FA55D_HUMAN&rb=77&re=270&var=R245M	NA	getma.org/?cm=var&var=hg19,11,114453106,C,A&fts=all	R245M	--	--	1																																		FAM55D_uc001ppd.2_Intron	1	1		possibly_damaging(0.907)	p.R245M	NM_001077639	NP_001071107		deleterious(0)	1	NXPE4_HUMAN	NXPE4	HGNC	Q6UWF7	FA55D_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)			3	915	-		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	UPI00000477F3	245					SNV	NXPE4,missense_variant,p.Arg245Met,ENST00000375478,NM_001077639.1;NXPE4,intron_variant,,ENST00000424261,NM_017678.2;RP11-172C16.4,upstream_gene_variant,,ENST00000536916,;	uc001ppc.2	c.734G>T	915/1822	1	1			c.734G>T						11	SNP	c.(733-735)AGG>ATG	49	49			ovary(2)|skin(2)	4	Broad	hypothetical protein LOC54827 isoform 1			114453106		0.438	ENSG00000137634	5491	g.chr11:114453106C>A		extracellular region								216.290513	KEEP	46	29	0.386666667	45	32	46	29	0.386666667	216.30473	45	32	0.489209	1	0	0	0	0	1	0	0	0	--	--		0	A			FAM55D_uc001ppd.2_Intron	124	GBM-12-1597-TP	p.R245M	C	GTGTTGAGGCCTCACACAGTA	NM_001077639	NP_001071107	114453106	Q6UWF7	FA55D_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)	3	915	-	A	A		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	Missense_Mutation	245						
NXPE4	0	broad.mit.edu	GRCh37	11	114453240	114453240	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-1450-01	TCGA-14-1450-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375478.3:c.600C>T	p.Asp200=	p.D200=	ENST00000375478	NM_001077639.1	200	gaC/gaT	0			1			A	D	uc001ppc.2	protein_coding	YES	CCDS41718.1			600/1635									ovary(2)|skin(2)	4	c.(598-600)GAC>GAT			hmmpanther:PTHR16165,hmmpanther:PTHR16165:SF3,Pfam_domain:PF06312	hypothetical protein LOC54827 isoform 1				ENSP00000364627		6-Mar									COSM3397428	6-Mar	.		ENST00000375478	Transcript				extracellular region		ENSG00000137634	g.chr11:114453240G>A	23117			LOW								--	--	1																																		FAM55D_uc001ppd.2_Intron	1	1			p.D200D	NM_001077639	NP_001071107			1	NXPE4_HUMAN	NXPE4	HGNC	Q6UWF7	FA55D_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)			3	781	-		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	UPI00000477F3	200					SNV	NXPE4,synonymous_variant,p.=,ENST00000375478,NM_001077639.1;NXPE4,intron_variant,,ENST00000424261,NM_017678.2;RP11-172C16.4,upstream_gene_variant,,ENST00000536916,;	uc001ppc.2	c.600C>T	781/1822	2	2			c.600C>T						11	SNP	c.(598-600)GAC>GAT	47	47			ovary(2)|skin(2)	4	Broad	hypothetical protein LOC54827 isoform 1			114453240		0.532	ENSG00000137634	5491	g.chr11:114453240G>A		extracellular region								7.380989	KEEP	6	5	-1	49	37	6	5	-1	20.59723	49	37	0.11236	1	0	0	0	0	0	0	1	0	--	--		0	A			FAM55D_uc001ppd.2_Intron	145	GBM-14-1450-TP	p.D200D	G	AGATCACCCTGTCATAGCCTT	NM_001077639	NP_001071107	114453240	Q6UWF7	FA55D_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)	3	781	-	A	A		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	Silent	200						
NXPH1	30010	broad.mit.edu	GRCh37	7	8791118	8791118	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs145299363	by1000genomes	TCGA-06-0169-01	TCGA-06-0169-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000405863.1:c.535G>C	p.Ala179Pro	p.A179P	ENST00000405863	NM_152745.2	179	Gca/Cca	0		C:0	1	C:0		C	A/P	uc003srv.2	protein_coding	YES	CCDS47540.1			535/816									ovary(1)|central_nervous_system(1)	2	c.(535-537)GCA>CCA			hmmpanther:PTHR17103,hmmpanther:PTHR17103:SF13,Pfam_domain:PF06312,PIRSF_domain:PIRSF038019	neurexophilin 1 precursor		C:0		ENSP00000384551	C:0.001	3-Mar	8.28E-06					1.52E-05			rs145299363,COSM3412454	3-Mar	.		ENST00000405863	Transcript		C:0.0002		extracellular region		ENSG00000122584	g.chr7:8791118G>C	20693			MODERATE		0.755	neutral	getma.org/?cm=msa&ty=f&p=NXPH1_HUMAN&rb=61&re=271&var=A179P	NA	getma.org/?cm=var&var=hg19,7,8791118,G,C&fts=all	A179P	--	--	1																																		NXPH1_uc011jxh.1_Missense_Mutation_p.A62P	0,1	1		benign(0.033)	p.A179P	NM_152745	NP_689958	C:0	tolerated(0.22)	0,1	NXPH1_HUMAN	NXPH1	HGNC	P58417	NXPH1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)	Q3LID8_HUMAN,C9JPD0_HUMAN,C9JE46_HUMAN,B4DJV1_HUMAN		3	1446	+		Ovarian(82;0.0628)	UPI000000DC02	179			IV (linker domain).		SNV	NXPH1,missense_variant,p.Ala179Pro,ENST00000405863,NM_152745.2;NXPH1,missense_variant,p.Ala62Pro,ENST00000602349,;NXPH1,downstream_gene_variant,,ENST00000429542,;NXPH1,downstream_gene_variant,,ENST00000438764,;NXPH1,non_coding_transcript_exon_variant,,ENST00000497400,;	uc003srv.2	c.535G>C	1446/2921	3	3			c.535G>C						7	SNP	c.(535-537)GCA>CCA	5	5			ovary(1)|central_nervous_system(1)	2	Broad	neurexophilin 1 precursor			8791118		0.398	ENSG00000122584	10599	g.chr7:8791118G>C		extracellular region								11.700854	KEEP	2	8	-1	41	50	2	8	-1	27.110243	41	50	0.095745	1	0	0	0	0	1	0	0	0	--	--		0	C			NXPH1_uc011jxh.1_Missense_Mutation_p.A62P	34	GBM-06-0169-TP	p.A179P	G	ATTTGACTTGGCACAACAAAC	NM_152745	NP_689958	8791118	P58417	NXPH1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)	3	1446	+	C	C		Ovarian(82;0.0628)	Missense_Mutation	179			IV (linker domain).			
NXPH1	0	broad.mit.edu	GRCh37	7	8791355	8791355	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6698-01	TCGA-06-6698-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000405863.1:c.772G>A	p.Asp258Asn	p.D258N	ENST00000405863	NM_152745.2	258	Gac/Aac	0			1			A	D/N	uc003srv.2	protein_coding	YES	CCDS47540.1			772/816									ovary(1)|central_nervous_system(1)	2	c.(772-774)GAC>AAC			hmmpanther:PTHR17103,hmmpanther:PTHR17103:SF13,Pfam_domain:PF06312,PIRSF_domain:PIRSF038019	neurexophilin 1 precursor				ENSP00000384551		3-Mar									COSM3412456	3-Mar	.		ENST00000405863	Transcript				extracellular region		ENSG00000122584	g.chr7:8791355G>A	20693			MODERATE		2.48	medium	getma.org/?cm=msa&ty=f&p=NXPH1_HUMAN&rb=61&re=271&var=D258N	NA	getma.org/?cm=var&var=hg19,7,8791355,G,A&fts=all	D258N	--	--	1																																		NXPH1_uc011jxh.1_Missense_Mutation_p.D141N	1	1		probably_damaging(0.997)	p.D258N	NM_152745	NP_689958		deleterious(0)	1	NXPH1_HUMAN	NXPH1	HGNC	P58417	NXPH1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)	Q3LID8_HUMAN,C9JPD0_HUMAN,C9JE46_HUMAN,B4DJV1_HUMAN		3	1683	+		Ovarian(82;0.0628)	UPI000000DC02	258			V (Cys-rich).		SNV	NXPH1,missense_variant,p.Asp258Asn,ENST00000405863,NM_152745.2;NXPH1,missense_variant,p.Asp141Asn,ENST00000602349,;NXPH1,downstream_gene_variant,,ENST00000429542,;NXPH1,downstream_gene_variant,,ENST00000438764,;NXPH1,non_coding_transcript_exon_variant,,ENST00000497400,;	uc003srv.2	c.772G>A	1683/2921	1	1			c.772G>A						7	SNP	c.(772-774)GAC>AAC	59	59			ovary(1)|central_nervous_system(1)	2	Broad	neurexophilin 1 precursor			8791355		0.443	ENSG00000122584	10599	g.chr7:8791355G>A		extracellular region								5.042367	KEEP	4	2	-1	24	16	4	2	-1	11.030479	24	16	0.119048	1	0	0	0	0	1	0	0	0	--	--		0	A			NXPH1_uc011jxh.1_Missense_Mutation_p.D141N	112	GBM-06-6698-TP	p.D258N	G	AGTGTGCCCTGACTACAACTA	NM_152745	NP_689958	8791355	P58417	NXPH1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)	3	1683	+	A	A		Ovarian(82;0.0628)	Missense_Mutation	258			V (Cys-rich).			
NYAP1	222950	broad.mit.edu	GRCh37	7	100085924	100085924	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-2557-01	TCGA-06-2557-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300179.2:c.580C>A	p.Gln194Lys	p.Q194K	ENST00000300179	NM_173564.3	194	Cag/Aag	0			1			A	Q/K	uc003uvd.1	protein_coding	YES	CCDS5696.1			580/2526									skin(1)	1	c.(580-582)CAG>AAG			Pfam_domain:PF15439,hmmpanther:PTHR22633,hmmpanther:PTHR22633:SF2	hypothetical protein FLJ37538				ENSP00000300179		7-Apr									COSM3411351	7-Apr	.		ENST00000300179	Transcript						ENSG00000166924	g.chr7:100085924C>A	22009			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=NYAP1_HUMAN&rb=1&re=200&var=Q194K	NA	getma.org/?cm=var&var=hg19,7,100085924,C,A&fts=all	Q194K	--	--	1																																		C7orf51_uc003uve.1_5'UTR	1	1		benign(0.114)	p.Q194K	NM_173564	NP_775835		tolerated(0.48)	1	NYAP1_HUMAN	NYAP1	HGNC	Q6ZVC0	CG051_HUMAN					4	739	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		UPI00001C0A2E	194					SNV	NYAP1,missense_variant,p.Gln194Lys,ENST00000423930,;NYAP1,missense_variant,p.Gln194Lys,ENST00000300179,NM_173564.3;NYAP1,missense_variant,p.Gln137Lys,ENST00000454988,;AC092849.1,upstream_gene_variant,,ENST00000583832,;NYAP1,upstream_gene_variant,,ENST00000496985,;NYAP1,upstream_gene_variant,,ENST00000489641,;	uc003uvd.1	c.580C>A	739/3581	2	2			c.580C>A						7	SNP	c.(580-582)CAG>AAG	17	17			skin(1)	1	Broad	hypothetical protein FLJ37538			100085924		0.637	ENSG00000166924	2351	g.chr7:100085924C>A										70.50911	KEEP	18	27	0.6	104	111	18	27	0.6	83.0954	104	111	0.205128	1	0	0	0	0	1	0	0	0	--	--		0	A			C7orf51_uc003uve.1_5'UTR	81	GBM-06-2557-TP	p.Q194K	C	CCTGCCTCTTCAGCGCCTCAC	NM_173564	NP_775835	100085924	Q6ZVC0	CG051_HUMAN	0			4	739	+	A	A	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		Missense_Mutation	194						
NYAP1	0	broad.mit.edu	GRCh37	7	100086489	100086489	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01	TCGA-76-6285-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300179.2:c.1145C>T	p.Thr382Met	p.T382M	ENST00000300179	NM_173564.3	382	aCg/aTg	0			1			T	T/M	uc003uvd.1	protein_coding	YES	CCDS5696.1			1145/2526									skin(1)	1	c.(1144-1146)ACG>ATG			Pfam_domain:PF15439,hmmpanther:PTHR22633,hmmpanther:PTHR22633:SF2	hypothetical protein FLJ37538				ENSP00000300179		7-Apr	6.61E-05				0.000161	5.03E-05		0.000245	rs760779356,COSM3411352	7-Apr	.		ENST00000300179	Transcript						ENSG00000166924	g.chr7:100086489C>T	22009			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=NYAP1_HUMAN&rb=201&re=400&var=T382M	NA	getma.org/?cm=var&var=hg19,7,100086489,C,T&fts=all	T382M	--	--	1																																		C7orf51_uc003uve.1_Missense_Mutation_p.T164M	0,1	1		probably_damaging(0.997)	p.T382M	NM_173564	NP_775835		deleterious(0.02)	0,1	NYAP1_HUMAN	NYAP1	HGNC	Q6ZVC0	CG051_HUMAN					4	1304	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		UPI00001C0A2E	382			Pro-rich.		SNV	NYAP1,missense_variant,p.Thr382Met,ENST00000423930,;NYAP1,missense_variant,p.Thr382Met,ENST00000300179,NM_173564.3;NYAP1,missense_variant,p.Thr325Met,ENST00000454988,;NYAP1,upstream_gene_variant,,ENST00000496985,;NYAP1,upstream_gene_variant,,ENST00000489641,;	uc003uvd.1	c.1145C>T	1304/3581	1	1			c.1145C>T						7	SNP	c.(1144-1146)ACG>ATG	6	6			skin(1)	1	Broad	hypothetical protein FLJ37538			100086489		0.706	ENSG00000166924	2351	g.chr7:100086489C>T										26.304669	KEEP	4	7	-1	14	26	4	7	-1	28.630862	14	26	0.255814	1	0	0	0	0	1	0	0	0	--	--		0	T			C7orf51_uc003uve.1_Missense_Mutation_p.T164M	280	GBM-76-6285-TP	p.T382M	C	GAGCGGGAGACGCCTCCCCCA	NM_173564	NP_775835	100086489	Q6ZVC0	CG051_HUMAN	0			4	1304	+	T	T	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		Missense_Mutation	382			Pro-rich.			
NYAP2	57624	broad.mit.edu	GRCh37	2	226446958	226446958	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-02-2485-01	TCGA-02-2485-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000272907.6:c.825C>A	p.Ile275=	p.I275=	ENST00000272907	NM_020864.1	275	atC/atA	0			1			A	I	uc002voe.2	protein_coding	YES	CCDS46529.1			825/1962									ovary(2)|central_nervous_system(1)	3	c.(823-825)ATC>ATA			Pfam_domain:PF15439,hmmpanther:PTHR22633	hypothetical protein LOC57624				ENSP00000272907		6-Apr									COSM3407622	6-Apr	.		ENST00000272907	Transcript						ENSG00000144460	g.chr2:226446958C>A	29291			LOW								--	--	1																																		KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.I45I	1	1			p.I275I	NM_020864	NP_065915			1	NYAP2_HUMAN	NYAP2	HGNC	Q9P242	K1486_HUMAN		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)			4	1000	+		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)	UPI00001C1DB6	275					SNV	NYAP2,synonymous_variant,p.=,ENST00000272907,NM_020864.1;NYAP2,intron_variant,,ENST00000409269,;	uc002voe.2	c.825C>A	1238/4828	1	1			c.825C>A						2	SNP	c.(823-825)ATC>ATA	51	51			ovary(2)|central_nervous_system(1)	3	Broad	hypothetical protein LOC57624			226446958		0.542	ENSG00000144460	8098	g.chr2:226446958C>A										182.725472	KEEP	29	38	0.567164179	33	47	29	38	0.567164179	183.079093	33	47	0.446043	1	0	0	0	0	0	0	1	0	--	--		0	A			KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.I45I	7	GBM-02-2485-TP	p.I275I	C	AGTACCCTATCTTTGACGACT	NM_020864	NP_065915	226446958	Q9P242	K1486_HUMAN	0		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)	4	1000	+	A	A		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)	Silent	275						
NYAP2	57624	broad.mit.edu	GRCh37	2	226446979	226446979	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-02-2485-01	TCGA-02-2485-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000272907.6:c.846C>T	p.Asp282=	p.D282=	ENST00000272907	NM_020864.1	282	gaC/gaT	0			1			T	D	uc002voe.2	protein_coding	YES	CCDS46529.1			846/1962									ovary(2)|central_nervous_system(1)	3	c.(844-846)GAC>GAT			Pfam_domain:PF15439,hmmpanther:PTHR22633	hypothetical protein LOC57624				ENSP00000272907		6-Apr									COSM3407623	6-Apr	.		ENST00000272907	Transcript						ENSG00000144460	g.chr2:226446979C>T	29291			LOW								--	--	1																																		KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.D52D	1	1			p.D282D	NM_020864	NP_065915			1	NYAP2_HUMAN	NYAP2	HGNC	Q9P242	K1486_HUMAN		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)			4	1021	+		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)	UPI00001C1DB6	282					SNV	NYAP2,synonymous_variant,p.=,ENST00000272907,NM_020864.1;NYAP2,intron_variant,,ENST00000409269,;	uc002voe.2	c.846C>T	1259/4828	2	2			c.846C>T						2	SNP	c.(844-846)GAC>GAT	18	18			ovary(2)|central_nervous_system(1)	3	Broad	hypothetical protein LOC57624			226446979		0.557	ENSG00000144460	8098	g.chr2:226446979C>T										139.532953	KEEP	20	28	-1	26	44	20	28	-1	140.175117	26	44	0.418182	1	0	0	0	0	0	0	1	0	--	--		0	T			KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.D52D	7	GBM-02-2485-TP	p.D282D	C	TGGGCCAAGACGCCAAATGTG	NM_020864	NP_065915	226446979	Q9P242	K1486_HUMAN	0		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)	4	1021	+	T	T		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)	Silent	282						
NYAP2	0	broad.mit.edu	GRCh37	2	226447451	226447451	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01	TCGA-19-2623-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000272907.6:c.1318G>A	p.Val440Ile	p.V440I	ENST00000272907	NM_020864.1	440	Gtc/Atc	0		T:0	1	T:0		A	V/I	uc002voe.2	protein_coding	YES	CCDS46529.1			1318/1962									ovary(2)|central_nervous_system(1)	3	c.(1318-1320)GTC>ATC			hmmpanther:PTHR22633	hypothetical protein LOC57624		T:0.001		ENSP00000272907	T:0	6-Apr	7.44E-05					6.11E-05		0.000321	rs551391208,COSM210222	6-Apr	.		ENST00000272907	Transcript		T:0.0002				ENSG00000144460	g.chr2:226447451G>A	29291			MODERATE		1.3	low	getma.org/?cm=msa&ty=f&p=NYAP2_HUMAN&rb=401&re=600&var=V440I	NA	getma.org/?cm=var&var=hg19,2,226447451,G,A&fts=all	V440I	--	--	1																																		KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.V210I	0,1	1		probably_damaging(0.996)	p.V440I	NM_020864	NP_065915	T:0	tolerated(0.08)	0,1	NYAP2_HUMAN	NYAP2	HGNC	Q9P242	K1486_HUMAN		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)			4	1493	+		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)	UPI00001C1DB6	440			Pro-rich.		SNV	NYAP2,missense_variant,p.Val440Ile,ENST00000272907,NM_020864.1;NYAP2,intron_variant,,ENST00000409269,;	uc002voe.2	c.1318G>A	1731/4828	2	2			c.1318G>A						2	SNP	c.(1318-1320)GTC>ATC	33	33			ovary(2)|central_nervous_system(1)	3	Broad	hypothetical protein LOC57624			226447451		0.642	ENSG00000144460	8098	g.chr2:226447451G>A										35.83123	KEEP	9	5	-1	16	22	9	5	-1	37.849911	16	22	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	A			KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.V210I	163	GBM-19-2623-TP	p.V440I	G	TCCCTCCCCCGTCAGCATGGG	NM_020864	NP_065915	226447451	Q9P242	K1486_HUMAN	0		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)	4	1493	+	A	A		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)	Missense_Mutation	440			Pro-rich.			
NYAP2	0	broad.mit.edu	GRCh37	2	226447519	226447519	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000272907.6:c.1386G>A	p.Ser462=	p.S462=	ENST00000272907	NM_020864.1	462	tcG/tcA	0			1			A	S	uc002voe.2	protein_coding	YES	CCDS46529.1			1386/1962									ovary(2)|central_nervous_system(1)	3	c.(1384-1386)TCG>TCA			hmmpanther:PTHR22633,Low_complexity_(Seg):seg	hypothetical protein LOC57624				ENSP00000272907		6-Apr	8.27E-06					1.51E-05			rs755401706,COSM3407624	6-Apr	.		ENST00000272907	Transcript						ENSG00000144460	g.chr2:226447519G>A	29291			LOW								--	--	1																																		KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.S232S	0,1	1			p.S462S	NM_020864	NP_065915			0,1	NYAP2_HUMAN	NYAP2	HGNC	Q9P242	K1486_HUMAN		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)			4	1561	+		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)	UPI00001C1DB6	462			Pro-rich.		SNV	NYAP2,synonymous_variant,p.=,ENST00000272907,NM_020864.1;NYAP2,intron_variant,,ENST00000409269,;	uc002voe.2	c.1386G>A	1799/4828	2	2			c.1386G>A						2	SNP	c.(1384-1386)TCG>TCA	42	42			ovary(2)|central_nervous_system(1)	3	Broad	hypothetical protein LOC57624			226447519		0.622	ENSG00000144460	8098	g.chr2:226447519G>A										4.772198	KEEP	3	5	-1	38	41	3	5	-1	16.471289	38	41	0.097222	1	0	0	0	0	0	0	1	0	--	--		0	A			KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.S232S	190	GBM-27-1831-TP	p.S462S	G	CTGTGCATTCGGGCAGCCTCT	NM_020864	NP_065915	226447519	Q9P242	K1486_HUMAN	0		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)	4	1561	+	A	A		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)	Silent	462			Pro-rich.			
NYAP2	0	broad.mit.edu	GRCh37	2	226447389	226447389	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01	TCGA-41-3393-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000272907.6:c.1256C>T	p.Thr419Met	p.T419M	ENST00000272907	NM_020864.1	419	aCg/aTg	0			1			T	T/M	uc002voe.2	protein_coding	YES	CCDS46529.1			1256/1962									ovary(2)|central_nervous_system(1)	3	c.(1255-1257)ACG>ATG			hmmpanther:PTHR22633,Low_complexity_(Seg):seg	hypothetical protein LOC57624				ENSP00000272907		6-Apr	2.48E-05		0.000245			2.13E-05			rs749778663,COSM1405906	6-Apr	.		ENST00000272907	Transcript						ENSG00000144460	g.chr2:226447389C>T	29291			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=NYAP2_HUMAN&rb=401&re=600&var=T419M	NA	getma.org/?cm=var&var=hg19,2,226447389,C,T&fts=all	T419M	--	--	1																																		KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.T189M	0,1	1		possibly_damaging(0.885)	p.T419M	NM_020864	NP_065915		deleterious(0.01)	0,1	NYAP2_HUMAN	NYAP2	HGNC	Q9P242	K1486_HUMAN		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)			4	1431	+		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)	UPI00001C1DB6	419			Pro-rich.		SNV	NYAP2,missense_variant,p.Thr419Met,ENST00000272907,NM_020864.1;NYAP2,intron_variant,,ENST00000409269,;	uc002voe.2	c.1256C>T	1669/4828	2	2			c.1256C>T						2	SNP	c.(1255-1257)ACG>ATG	17	17			ovary(2)|central_nervous_system(1)	3	Broad	hypothetical protein LOC57624			226447389		0.662	ENSG00000144460	8098	g.chr2:226447389C>T										8.123105	KEEP	0	3	-1	3	4	0	3	-1	8.154397	3	4	0.428571	1	0	0	0	0	1	0	0	0	--	--		0	T			KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.T189M	255	GBM-41-3393-TP	p.T419M	C	CCCCCGTCTACGCTGTACCGA	NM_020864	NP_065915	226447389	Q9P242	K1486_HUMAN	0		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)	4	1431	+	T	T		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)	Missense_Mutation	419			Pro-rich.			
NYAP2	57624		GRCh37	2	226446762	226446762	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000272907.6:c.629C>T	p.Thr210Met	p.T210M	ENST00000272907	NM_020864.1	210	aCg/aTg	0																																																																																																																																																																																																																																												
NYNRIN	0	broad.mit.edu	GRCh37	14	24878580	24878580	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-1442-01	TCGA-26-1442-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382554.3:c.1580G>A	p.Gly527Glu	p.G527E	ENST00000382554	NM_025081.2	527	gGg/gAg	0			1			A	G/E	uc001wpf.3	protein_coding	YES	CCDS45090.1			1580/5697									ovary(2)|central_nervous_system(1)	3	c.(1579-1581)GGG>GAG			hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF2	hypothetical protein LOC57523				ENSP00000371994		9-Apr									COSM3401268	9-Apr	.		ENST00000382554	Transcript			DNA integration	integral to membrane	DNA binding	ENSG00000205978	g.chr14:24878580G>A	20165			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=NYNRI_HUMAN&rb=201&re=774&var=G527E	NA	getma.org/?cm=var&var=hg19,14,24878580,G,A&fts=all	G527E	--	--	1																																			1	1		benign(0.007)	p.G527E	NM_025081	NP_079357		tolerated_low_confidence(0.42)	1	NYNRI_HUMAN	NYNRIN	HGNC	Q9P2P1	NYNRI_HUMAN					4	1898	+			UPI0000251E63	527					SNV	NYNRIN,missense_variant,p.Gly527Glu,ENST00000382554,NM_025081.2;NYNRIN,upstream_gene_variant,,ENST00000554505,;	uc001wpf.3	c.1580G>A	1898/7857	1	1			c.1580G>A						14	SNP	c.(1579-1581)GGG>GAG	51	51			ovary(2)|central_nervous_system(1)	3	Broad	hypothetical protein LOC57523			24878580		0.567	ENSG00000205978	10605	g.chr14:24878580G>A	DNA integration	integral to membrane	DNA binding			473			473	-1.534795	KEEP	1	4	-1	22	35	1	4	-1	9.033775	22	35	0.084746	1	0	0	0	0	1	0	0	0	--	--		0	A				180	GBM-26-1442-TP	p.G527E	G	GTGGCTCAAGGGGGGCTGACA	NM_025081	NP_079357	24878580	Q9P2P1	NYNRI_HUMAN	0			4	1898	+	A	A			Missense_Mutation	527						
OAS1	0	broad.mit.edu	GRCh37	12	113346549	113346549	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000202917.5:c.389G>A	p.Arg130His	p.R130H	ENST00000202917	NM_016816.2	130	cGt/cAt	0			1			A	R/H	uc001tud.2	protein_coding		CCDS41838.1			389/1203									ovary(2)	2	c.(388-390)CGT>CAT			hmmpanther:PTHR11258,hmmpanther:PTHR11258:SF13,Gene3D:3.30.460.10,Superfamily_domains:SSF81301	2',5'-oligoadenylate synthetase 1 isoform 1				ENSP00000202917		6-Feb									COSM3398367,COSM3398368,COSM3398369	6-Feb	.		ENST00000202917	Transcript			interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	ENSG00000089127	g.chr12:113346549G>A	8086			MODERATE		3.215	medium	getma.org/?cm=msa&ty=f&p=OAS1_HUMAN&rb=40&re=132&var=R130H	NA	getma.org/?cm=var&var=hg19,12,113346549,G,A&fts=all	R130H	--	--	1																																		OAS1_uc010syn.1_Missense_Mutation_p.R129H|OAS1_uc010syo.1_Missense_Mutation_p.R129H|OAS1_uc001tub.2_Missense_Mutation_p.R130H|OAS1_uc001tuc.2_Missense_Mutation_p.R130H|OAS1_uc009zwf.2_Missense_Mutation_p.R129H	1,1,1			possibly_damaging(0.886)	p.R130H	NM_016816	NP_058132		deleterious(0.03)	1,1,1	OAS1_HUMAN	OAS1	HGNC	P00973	OAS1_HUMAN			Q1P9K4_HUMAN		2	495	+			UPI000013C63C	130			Necessary for binding to dsRNA.		SNV	OAS1,missense_variant,p.Arg130His,ENST00000452357,NM_002534.2;OAS1,missense_variant,p.Arg130His,ENST00000202917,NM_016816.2;OAS1,missense_variant,p.Arg130His,ENST00000445409,NM_001032409.1;OAS1,missense_variant,p.Arg130His,ENST00000551241,;OAS1,missense_variant,p.Arg126His,ENST00000550689,;OAS1,missense_variant,p.Arg130His,ENST00000553185,;OAS1,intron_variant,,ENST00000550883,;RP1-71H24.1,intron_variant,,ENST00000552784,;OAS1,non_coding_transcript_exon_variant,,ENST00000549820,;	uc001tud.2	c.389G>A	652/1816	1	1			c.389G>A						12	SNP	c.(388-390)CGT>CAT	61	61			ovary(2)	2	Broad	2',5'-oligoadenylate synthetase 1 isoform 1			113346549		0.577	ENSG00000089127	10608	g.chr12:113346549G>A	interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding							99.769294	KEEP	15	21	-1	16	26	15	21	-1	99.877738	16	26	0.458333	1	0	0	0	0	1	0	0	0	--	--		0	A			OAS1_uc010syn.1_Missense_Mutation_p.R129H|OAS1_uc010syo.1_Missense_Mutation_p.R129H|OAS1_uc001tub.2_Missense_Mutation_p.R130H|OAS1_uc001tuc.2_Missense_Mutation_p.R130H|OAS1_uc009zwf.2_Missense_Mutation_p.R129H	177	GBM-19-5959-TP	p.R130H	G	GGCAACCCCCGTGCGCTCAGC	NM_016816	NP_058132	113346549	P00973	OAS1_HUMAN	0			2	495	+	A	A			Missense_Mutation	130			Necessary for binding to dsRNA.			
OAS2	4939	broad.mit.edu	GRCh37	12	113447011	113447011	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-5408-01	TCGA-06-5408-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342315.4:c.2015G>T	p.Gly672Val	p.G672V	ENST00000342315	NM_016817.2	672	gGg/gTg	0			1			T	G/V	uc001tuj.2	protein_coding	YES	CCDS31906.1			2015/2160									ovary(1)	1	c.(2014-2016)GGG>GTG			Superfamily_domains:SSF81631,Pfam_domain:PF10421,Gene3D:1px5A02,hmmpanther:PTHR11258:SF3,hmmpanther:PTHR11258	2'-5'-oligoadenylate synthetase 2 isoform 1				ENSP00000342278		11-Oct									COSM3398371	11-Oct	.		ENST00000342315	Transcript			interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	ENSG00000111335	g.chr12:113447011G>T	8087			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=OAS2_HUMAN&rb=495&re=686&var=G672V	getma.org/pdb.php?prot=OAS2_HUMAN&from=495&to=686&var=G672V	getma.org/?cm=var&var=hg19,12,113447011,G,T&fts=all	G672V	--	--	1																																		OAS2_uc001tui.1_Missense_Mutation_p.G672V	1	1		possibly_damaging(0.704)	p.G672V	NM_016817	NP_058197		tolerated(0.39)	1	OAS2_HUMAN	OAS2	HGNC	P29728	OAS2_HUMAN					10	2155	+			UPI000013CB0B	672			OAS domain 2.		SNV	OAS2,missense_variant,p.Gly672Val,ENST00000392583,NM_002535.2;OAS2,missense_variant,p.Gly672Val,ENST00000342315,NM_016817.2;RP1-71H24.1,intron_variant,,ENST00000552784,;OAS2,downstream_gene_variant,,ENST00000548941,;	uc001tuj.2	c.2015G>T	2229/3613	2	2			c.2015G>T						12	SNP	c.(2014-2016)GGG>GTG	35	35			ovary(1)	1	Broad	2'-5'-oligoadenylate synthetase 2 isoform 1			113447011		0.502	ENSG00000111335	10609	g.chr12:113447011G>T	interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	Pancreas(199;709 2232 18410 33584 35052)			Pancreas(199;709 2232 18410 33584 35052)			-13.557909	KEEP	12	20	0.375	176	229	12	20	0.375	57.70356	176	229	0.071618	1	0	0	0	0	1	0	0	0	--	--		0	T			OAS2_uc001tui.1_Missense_Mutation_p.G672V	92	GBM-06-5408-TP	p.G672V	G	TTCAAGGATGGGACTGGAAAC	NM_016817	NP_058197	113447011	P29728	OAS2_HUMAN	0			10	2155	+	T	T			Missense_Mutation	672			OAS domain 2.			
OAS2	0	broad.mit.edu	GRCh37	12	113447043	113447043	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0618-01	TCGA-12-0618-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342315.4:c.2047C>T	p.Pro683Ser	p.P683S	ENST00000342315	NM_016817.2	683	Ccg/Tcg	0			1			T	P/S	uc001tuj.2	protein_coding	YES	CCDS31906.1			2047/2160									ovary(1)	1	c.(2047-2049)CCG>TCG			Pfam_domain:PF10421,Gene3D:1px5A02,hmmpanther:PTHR11258:SF3,hmmpanther:PTHR11258	2'-5'-oligoadenylate synthetase 2 isoform 1				ENSP00000342278		11-Oct									COSM3398372	11-Oct	.		ENST00000342315	Transcript			interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	ENSG00000111335	g.chr12:113447043C>T	8087			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=OAS2_HUMAN&rb=495&re=686&var=P683S	NA	getma.org/?cm=var&var=hg19,12,113447043,C,T&fts=all	P683S	--	--	1																																		OAS2_uc001tui.1_Missense_Mutation_p.P683S	1	1		possibly_damaging(0.591)	p.P683S	NM_016817	NP_058197		tolerated(0.05)	1	OAS2_HUMAN	OAS2	HGNC	P29728	OAS2_HUMAN					10	2187	+			UPI000013CB0B	683			OAS domain 2.		SNV	OAS2,missense_variant,p.Pro683Ser,ENST00000392583,NM_002535.2;OAS2,missense_variant,p.Pro683Ser,ENST00000342315,NM_016817.2;RP1-71H24.1,intron_variant,,ENST00000552784,;OAS2,downstream_gene_variant,,ENST00000548941,;	uc001tuj.2	c.2047C>T	2261/3613	1	1			c.2047C>T						12	SNP	c.(2047-2049)CCG>TCG	16	16			ovary(1)	1	Broad	2'-5'-oligoadenylate synthetase 2 isoform 1			113447043		0.458	ENSG00000111335	10609	g.chr12:113447043C>T	interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	Pancreas(199;709 2232 18410 33584 35052)			Pancreas(199;709 2232 18410 33584 35052)			-95.576762	KEEP	2	4	-1	198	218	2	4	-1	7.252656	198	218	0.013158	1	0	0	0	0	1	0	0	0	--	--		0	T			OAS2_uc001tui.1_Missense_Mutation_p.P683S	119	GBM-12-0618-TP	p.P683S	C	TTGGAAAGTGCCGGTAAAAGT	NM_016817	NP_058197	113447043	P29728	OAS2_HUMAN	0			10	2187	+	T	T			Missense_Mutation	683			OAS domain 2.			
OAS2	0	broad.mit.edu	GRCh37	12	113435338	113435338	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-32-2615-01	TCGA-32-2615-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342315.4:c.641T>A	p.Ile214Asn	p.I214N	ENST00000342315	NM_016817.2	214	aTc/aAc	0			1			A	I/N	uc001tuj.2	protein_coding	YES	CCDS31906.1			641/2160									ovary(1)	1	c.(640-642)ATC>AAC			Superfamily_domains:SSF81631,Pfam_domain:PF10421,Gene3D:1px5A02,hmmpanther:PTHR11258:SF3,hmmpanther:PTHR11258	2'-5'-oligoadenylate synthetase 2 isoform 1				ENSP00000342278		11-Apr									COSM3398370	11-Apr	.		ENST00000342315	Transcript			interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	ENSG00000111335	g.chr12:113435338T>A	8087			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=OAS2_HUMAN&rb=152&re=339&var=I214N	getma.org/pdb.php?prot=OAS2_HUMAN&from=152&to=339&var=I214N	getma.org/?cm=var&var=hg19,12,113435338,T,A&fts=all	I214N	--	--	1																																		OAS2_uc001tui.1_Missense_Mutation_p.I214N	1	1		benign(0)	p.I214N	NM_016817	NP_058197		tolerated(0.37)	1	OAS2_HUMAN	OAS2	HGNC	P29728	OAS2_HUMAN					4	781	+			UPI000013CB0B	214			OAS domain 1.		SNV	OAS2,missense_variant,p.Ile214Asn,ENST00000392583,NM_002535.2;OAS2,missense_variant,p.Ile214Asn,ENST00000342315,NM_016817.2;OAS2,missense_variant,p.Ile139Asn,ENST00000552756,;RP1-71H24.1,intron_variant,,ENST00000552784,;OAS2,3_prime_UTR_variant,,ENST00000551603,;OAS2,upstream_gene_variant,,ENST00000548941,;	uc001tuj.2	c.641T>A	855/3613	1	1			c.641T>A						12	SNP	c.(640-642)ATC>AAC	56	56			ovary(1)	1	Broad	2'-5'-oligoadenylate synthetase 2 isoform 1			113435338		0.488	ENSG00000111335	10609	g.chr12:113435338T>A	interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	Pancreas(199;709 2232 18410 33584 35052)			Pancreas(199;709 2232 18410 33584 35052)			-1.08728	KEEP	3	5	-1	66	45	3	5	-1	19.837328	66	45	0.072072	1	0	0	0	0	1	0	0	0	--	--		0	A			OAS2_uc001tui.1_Missense_Mutation_p.I214N	239	GBM-32-2615-TP	p.I214N	T	CAGAAAAAAATCAAGGATTTA	NM_016817	NP_058197	113435338	P29728	OAS2_HUMAN	0			4	781	+	A	A			Missense_Mutation	214			OAS domain 1.			
OASL	0	broad.mit.edu	GRCh37	12	121465457	121465457	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-28-2513-01	TCGA-28-2513-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257570.5:c.821G>C	p.Cys274Ser	p.C274S	ENST00000257570	NM_003733.3	274	tGt/tCt	0			1			G	C/S	uc001tzj.1	protein_coding	YES	CCDS9211.1			821/1545									skin(1)	1	c.(820-822)TGT>TCT			hmmpanther:PTHR11258:SF16,hmmpanther:PTHR11258,Gene3D:1px5A02,Pfam_domain:PF10421,Superfamily_domains:SSF81631	2'-5'-oligoadenylate synthetase-like isoform a				ENSP00000257570		6-Apr	1.65E-05					1.50E-05		6.06E-05	rs771301337,COSM3398444	6-Apr	.		ENST00000257570	Transcript			interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity	ENSG00000135114	g.chr12:121465457C>G	8090			MODERATE		3.045	medium	getma.org/?cm=msa&ty=f&p=OASL_HUMAN&rb=166&re=352&var=C274S	getma.org/pdb.php?prot=OASL_HUMAN&from=166&to=352&var=C274S	getma.org/?cm=var&var=hg19,12,121465457,C,G&fts=all	C274S	--	--	1																																		OASL_uc001tzk.1_Intron	0,1	1		probably_damaging(1)	p.C274S	NM_003733	NP_003724		deleterious(0)	0,1	OASL_HUMAN	OASL	HGNC	Q15646	OASL_HUMAN					4	827	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		UPI000005339E	274					SNV	OASL,missense_variant,p.Cys274Ser,ENST00000257570,NM_003733.3;OASL,intron_variant,,ENST00000339275,NM_198213.2;OASL,intron_variant,,ENST00000543677,;	uc001tzj.1	c.821G>C	1092/2085	4	4			c.821G>C						12	SNP	c.(820-822)TGT>TCT	28	28			skin(1)	1	Broad	2'-5'-oligoadenylate synthetase-like isoform a			121465457		0.453	ENSG00000135114	10611	g.chr12:121465457C>G	interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity	Colon(192;517 2041 31392 31913 39966)			Colon(192;517 2041 31392 31913 39966)			60.359524	KEEP	11	17	-1	92	87	11	17	-1	84.921482	92	87	0.141414	1	0	0	0	0	1	0	0	0	--	--		0	G			OASL_uc001tzk.1_Intron	213	GBM-28-2513-TP	p.C274S	C	CCAGTAGATACAGATGACTTC	NM_003733	NP_003724	121465457	Q15646	OASL_HUMAN	0			4	827	-	G	G	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		Missense_Mutation	274						
OASL	8638		GRCh37	12	121471350	121471350	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000257570.5:c.395T>C	p.Val132Ala	p.V132A	ENST00000257570	NM_003733.3	132	gTc/gCc	0																																																																																																																																																																																																																																												
OBP2A	0	broad.mit.edu	GRCh37	9	138438640	138438640	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-4157-01	TCGA-14-4157-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371776.1:c.89A>G	p.Tyr30Cys	p.Y30C	ENST00000371776	NM_014582.2	30	tAc/tGc	0			1			G	Y/C	uc004cgb.2	protein_coding		CCDS6992.1			89/513										0	c.(88-90)TAC>TGC			Prints_domain:PR01175,Superfamily_domains:SSF50814,Gene3D:2.40.128.20,Pfam_domain:PF00061,hmmpanther:PTHR11430,hmmpanther:PTHR11430:SF6	odorant binding protein 2A precursor				ENSP00000360841		7-Feb									COSM3413446,COSM3413447	7-Feb	.		ENST00000371776	Transcript			response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity	ENSG00000122136	g.chr9:138438640A>G	23380			MODERATE		2.625	medium	getma.org/?cm=msa&ty=f&p=OBP2A_HUMAN&rb=26&re=164&var=Y30C	getma.org/pdb.php?prot=OBP2A_HUMAN&from=26&to=164&var=Y30C	getma.org/?cm=var&var=hg19,9,138438640,A,G&fts=all	Y30C	--	--	1																																		OBP2A_uc004cgc.2_Missense_Mutation_p.Y30C|OBP2A_uc010nau.2_RNA|OBP2A_uc010nav.2_Intron	1,1			probably_damaging(0.984)	p.Y30C	NM_014582	NP_055397		deleterious(0)	1,1	OBP2A_HUMAN	OBP2A	HGNC	Q9NY56	OBP2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)			2	131	+			UPI00000377BA	30					SNV	OBP2A,missense_variant,p.Tyr30Cys,ENST00000539850,;OBP2A,missense_variant,p.Tyr30Cys,ENST00000340780,;OBP2A,missense_variant,p.Tyr30Cys,ENST00000371776,NM_014582.2;OBP2A,intron_variant,,ENST00000342114,;OBP2A,missense_variant,p.Tyr30Cys,ENST00000471886,;OBP2A,intron_variant,,ENST00000537747,;	uc004cgb.2	c.89A>G	131/689	4	4			c.89A>G						9	SNP	c.(88-90)TAC>TGC	21	21				0	Broad	odorant binding protein 2A precursor			138438640		0.607	ENSG00000122136	10619	g.chr9:138438640A>G	response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity							-0.676408	KEEP	2	0	-1	45	37	2	0	-1	6.525476	45	37	0.057143	1	0	0	0	0	1	0	0	0	--	--		0	G			OBP2A_uc004cgc.2_Missense_Mutation_p.Y30C|OBP2A_uc010nau.2_RNA|OBP2A_uc010nav.2_Intron	152	GBM-14-4157-TP	p.Y30C	A	GGGACCTGGTACGTGAAGGCC	NM_014582	NP_055397	138438640	Q9NY56	OBP2A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)	2	131	+	G	G			Missense_Mutation	30						
OBSCN	84033	broad.mit.edu	GRCh37	1	228467603	228467603	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000570156.2:c.8765G>A	p.Arg2922Gln	p.R2922Q	ENST00000570156	NM_001271223.2	2922	cGg/cAg	0			1			A	R/Q	uc009xez.1	protein_coding		CCDS58065.1			7478/23907									stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28	c.(7477-7479)CGG>CAG			PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF17,hmmpanther:PTHR19897,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,SMART_domains:SM00406,Superfamily_domains:SSF48726	obscurin, cytoskeletal calmodulin and				ENSP00000409493		28/105									COSM3400398,COSM3400399,COSM3400400,COSM3400397	28/105	.		ENST00000422127	Transcript			apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	ENSG00000154358	g.chr1:228467603G>A	15719			MODERATE		0.355	neutral	getma.org/?cm=msa&ty=f&p=OBSCN_HUMAN&rb=2468&re=2556&var=R2493Q	getma.org/pdb.php?prot=OBSCN_HUMAN&from=2468&to=2556&var=R2493Q	getma.org/?cm=var&var=hg19,1,228467603,G,A&fts=all	R2493Q	--	--	1																																		OBSCN_uc001hsn.2_Missense_Mutation_p.R2493Q|OBSCN_uc001hsp.1_Missense_Mutation_p.R192Q|OBSCN_uc001hsq.1_5'Flank	1,1,1,1			probably_damaging(0.913)	p.R2493Q	NM_001098623	NP_001092093			1,1,1,1	OBSCN_HUMAN	OBSCN	HGNC	Q5VST9	OBSCN_HUMAN					28	7522	+		Prostate(94;0.0405)	UPI0001838884	2493			Ig-like 24.		SNV	OBSCN,missense_variant,p.Arg2922Gln,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Arg2493Gln,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Arg2493Gln,ENST00000284548,NM_052843.3;OBSCN,missense_variant,p.Arg1340Gln,ENST00000359599,;OBSCN,missense_variant,p.Arg341Gln,ENST00000366706,;OBSCN,5_prime_UTR_variant,,ENST00000366707,;OBSCN,5_prime_UTR_variant,,ENST00000366709,;OBSCN,upstream_gene_variant,,ENST00000483539,;RP5-1139B12.3,upstream_gene_variant,,ENST00000602529,;RP5-1139B12.3,upstream_gene_variant,,ENST00000602947,;OBSCN,upstream_gene_variant,,ENST00000366704,;	uc009xez.1	c.7478G>A	7522/24030	1	1			c.7478G>A						1	SNP	c.(7477-7479)CGG>CAG	64	64			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28	Broad	obscurin, cytoskeletal calmodulin and			228467603		0.622	ENSG00000154358	10621	g.chr1:228467603G>A	apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			4006			4006	8.319209	KEEP	2	1	-1	5	8	2	1	-1	9.000895	5	8	0.25	1	0	0	0	0	1	0	0	0	--	--		0	A			OBSCN_uc001hsn.2_Missense_Mutation_p.R2493Q|OBSCN_uc001hsp.1_Missense_Mutation_p.R192Q|OBSCN_uc001hsq.1_5'Flank	26	GBM-06-0154-TP	p.R2493Q	G	TGCGACTTCCGGCCAGCCCCC	NM_001098623	NP_001092093	228467603	Q5VST9	OBSCN_HUMAN	0			28	7522	+	A	A		Prostate(94;0.0405)	Missense_Mutation	2493			Ig-like 24.			
OBSCN	84033	broad.mit.edu	GRCh37	1	228431145	228431145	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0155-01	TCGA-06-0155-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000570156.2:c.3467G>T	p.Arg1156Leu	p.R1156L	ENST00000570156	NM_001271223.2	1156	cGc/cTc	0		T:0.0008	1	T:0		T	R/L	uc009xez.1	protein_coding		CCDS58065.1			3191/23907									stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28	c.(3190-3192)CGC>CTC			PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF17,hmmpanther:PTHR19897,SMART_domains:SM00409,Superfamily_domains:SSF48726,Superfamily_domains:SSF48726	obscurin, cytoskeletal calmodulin and		T:0		ENSP00000409493	T:0	10/105	1.65E-05	0.000107				1.55E-05			rs553600555,COSM3400386,COSM3400387,COSM3400388,COSM3400385	10/105	.		ENST00000422127	Transcript		T:0.0002	apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	ENSG00000154358	g.chr1:228431145G>T	15719			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=OBSCN_HUMAN&rb=978&re=1066&var=R1064L	getma.org/pdb.php?prot=OBSCN_HUMAN&from=978&to=1066&var=R1064L	getma.org/?cm=var&var=hg19,1,228431145,G,T&fts=all	R1064L	--	--	1																																		OBSCN_uc001hsn.2_Missense_Mutation_p.R1064L	0,1,1,1,1			benign(0.124)	p.R1064L	NM_001098623	NP_001092093	T:0		0,1,1,1,1	OBSCN_HUMAN	OBSCN	HGNC	Q5VST9	OBSCN_HUMAN					10	3235	+		Prostate(94;0.0405)	UPI0001838884	1064			Ig-like 10.		SNV	OBSCN,missense_variant,p.Arg1156Leu,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Arg1064Leu,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Arg1064Leu,ENST00000284548,NM_052843.3;OBSCN,5_prime_UTR_variant,,ENST00000366707,;OBSCN,5_prime_UTR_variant,,ENST00000366709,;	uc009xez.1	c.3191G>T	3235/24030	1	1			c.3191G>T						1	SNP	c.(3190-3192)CGC>CTC	8	8			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28	Broad	obscurin, cytoskeletal calmodulin and			228431145		0.552	ENSG00000154358	10621	g.chr1:228431145G>T	apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			4006			4006	58.630833	KEEP	8	13	0.380952381	19	18	8	13	0.380952381	59.165666	19	18	0.387755	1	0	0	0	0	1	0	0	0	--	--		0	T			OBSCN_uc001hsn.2_Missense_Mutation_p.R1064L	27	GBM-06-0155-TP	p.R1064L	G	GTCTCCTTCCGCCTGCACATC	NM_001098623	NP_001092093	228431145	Q5VST9	OBSCN_HUMAN	0			10	3235	+	T	T		Prostate(94;0.0405)	Missense_Mutation	1064			Ig-like 10.			
OBSCN	84033	broad.mit.edu	GRCh37	1	228557713	228557713	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01	TCGA-06-0155-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000570156.2:c.22909G>A	p.Val7637Met	p.V7637M	ENST00000570156	NM_001271223.2	7637	Gtg/Atg	0			1			A	V/M	uc009xez.1	protein_coding		CCDS58065.1			20038/23907									stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28	c.(20038-20040)GTG>ATG			PROSITE_profiles:PS50011,hmmpanther:PTHR19897:SF17,hmmpanther:PTHR19897,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	obscurin, cytoskeletal calmodulin and				ENSP00000409493		91/105	1.65E-05			0.000233					rs746796118,COSM3400434,COSM3400433	91/105	.		ENST00000422127	Transcript			apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	ENSG00000154358	g.chr1:228557713G>A	15719			MODERATE		1.365	low	getma.org/?cm=msa&ty=f&p=OBSCN_HUMAN&rb=6468&re=6721&var=V6680M	getma.org/pdb.php?prot=OBSCN_HUMAN&from=6468&to=6721&var=V6680M	getma.org/?cm=var&var=hg19,1,228557713,G,A&fts=all	V6680M	--	--	1																																		OBSCN_uc001hsr.1_Missense_Mutation_p.V1309M	0,1,1			probably_damaging(0.997)	p.V6680M	NM_001098623	NP_001092093			0,1,1	OBSCN_HUMAN	OBSCN	HGNC	Q5VST9	OBSCN_HUMAN					91	20082	+		Prostate(94;0.0405)	UPI0001838884	6680			Protein kinase 1.		SNV	OBSCN,missense_variant,p.Val7637Met,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Val4314Met,ENST00000366707,;OBSCN,missense_variant,p.Val6680Met,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Val1297Met,ENST00000441106,;	uc009xez.1	c.20038G>A	20082/24030	2	2			c.20038G>A						1	SNP	c.(20038-20040)GTG>ATG	25	25			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28	Broad	obscurin, cytoskeletal calmodulin and			228557713		0.642	ENSG00000154358	10621	g.chr1:228557713G>A	apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			4006			4006	-20.196308	KEEP	1	4	-1	53	78	1	4	-1	6.879221	53	78	0.034783	1	0	0	0	0	1	0	0	0	--	--		0	A			OBSCN_uc001hsr.1_Missense_Mutation_p.V1309M	27	GBM-06-0155-TP	p.V6680M	G	GGAGGGGCGCGTGTCATGGAG	NM_001098623	NP_001092093	228557713	Q5VST9	OBSCN_HUMAN	0			91	20082	+	A	A		Prostate(94;0.0405)	Missense_Mutation	6680			Protein kinase 1.			
OBSCN	84033	broad.mit.edu	GRCh37	1	228494689	228494689	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0237-01	TCGA-06-0237-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000570156.2:c.14885C>T	p.Ala4962Val	p.A4962V	ENST00000570156	NM_001271223.2	4962	gCg/gTg	0			1			T	A/V	uc009xez.1	protein_coding		CCDS58065.1			12014/23907									stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28	c.(12013-12015)GCG>GTG			PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF17,hmmpanther:PTHR19897,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	obscurin, cytoskeletal calmodulin and				ENSP00000409493		45/105	4.13E-05			0.000238		5.61E-05			rs751925970,COSM3385850,COSM3385851,COSM3385849	45/105	.		ENST00000422127	Transcript			apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	ENSG00000154358	g.chr1:228494689C>T	15719			MODERATE		1.395	low	getma.org/?cm=msa&ty=f&p=OBSCN_HUMAN&rb=3979&re=4065&var=A4005V	getma.org/pdb.php?prot=OBSCN_HUMAN&from=3979&to=4065&var=A4005V	getma.org/?cm=var&var=hg19,1,228494689,C,T&fts=all	A4005V	--	--	1																																		OBSCN_uc001hsn.2_Missense_Mutation_p.A4005V	0,1,1,1			unknown(0)	p.A4005V	NM_001098623	NP_001092093			0,1,1,1	OBSCN_HUMAN	OBSCN	HGNC	Q5VST9	OBSCN_HUMAN					45	12058	+		Prostate(94;0.0405)	UPI0001838884	4005			Ig-like 41.		SNV	OBSCN,missense_variant,p.Ala4962Val,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Ala1639Val,ENST00000366707,;OBSCN,missense_variant,p.Ala4005Val,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Ala4005Val,ENST00000284548,NM_052843.3;OBSCN,missense_variant,p.Ala1124Val,ENST00000366709,;OBSCN,downstream_gene_variant,,ENST00000359599,;OBSCN,downstream_gene_variant,,ENST00000483539,;RP5-1139B12.4,upstream_gene_variant,,ENST00000602778,;OBSCN,downstream_gene_variant,,ENST00000602685,;OBSCN,downstream_gene_variant,,ENST00000602832,;	uc009xez.1	c.12014C>T	12058/24030	2	2			c.12014C>T						1	SNP	c.(12013-12015)GCG>GTG	32	32			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28	Broad	obscurin, cytoskeletal calmodulin and			228494689		0.657	ENSG00000154358	10621	g.chr1:228494689C>T	apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			4006			4006	57.896925	KEEP	9	12	-1	12	9	9	12	-1	57.919522	12	9	0.526316	1	0	0	0	0	1	0	0	0	--	--		0	T			OBSCN_uc001hsn.2_Missense_Mutation_p.A4005V	54	GBM-06-0237-TP	p.A4005V	C	CTGAGCCGGGCGGGTGCGAGC	NM_001098623	NP_001092093	228494689	Q5VST9	OBSCN_HUMAN	0			45	12058	+	T	T		Prostate(94;0.0405)	Missense_Mutation	4005			Ig-like 41.			
OBSCN	84033	broad.mit.edu	GRCh37	1	228511139	228511139	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2569-01	TCGA-06-2569-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000570156.2:c.18355G>A	p.Asp6119Asn	p.D6119N	ENST00000570156	NM_001271223.2	6119	Gat/Aat	0			1			A	D/N	uc009xez.1	protein_coding		CCDS58065.1			15484/23907									stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28	c.(15484-15486)GAT>AAT			PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF17,hmmpanther:PTHR19897,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	obscurin, cytoskeletal calmodulin and				ENSP00000409493		56/105									COSM3400423,COSM3400424,COSM3400422	56/105	.		ENST00000422127	Transcript			apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	ENSG00000154358	g.chr1:228511139G>A	15719			MODERATE		0.575	neutral	getma.org/?cm=msa&ty=f&p=OBSCN_HUMAN&rb=5126&re=5216&var=D5162N	getma.org/pdb.php?prot=OBSCN_HUMAN&from=5126&to=5216&var=D5162N	getma.org/?cm=var&var=hg19,1,228511139,G,A&fts=all	D5162N	--	--	1																																		OBSCN_uc001hsn.2_Missense_Mutation_p.D5162N	1,1,1			probably_damaging(0.999)	p.D5162N	NM_001098623	NP_001092093			1,1,1	OBSCN_HUMAN	OBSCN	HGNC	Q5VST9	OBSCN_HUMAN					56	15528	+		Prostate(94;0.0405)	UPI0001838884	5162			Ig-like 49.		SNV	OBSCN,missense_variant,p.Asp6119Asn,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Asp2796Asn,ENST00000366707,;OBSCN,missense_variant,p.Asp5162Asn,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Asp5162Asn,ENST00000284548,NM_052843.3;OBSCN,missense_variant,p.Asp2281Asn,ENST00000366709,;	uc009xez.1	c.15484G>A	15528/24030	2	2			c.15484G>A						1	SNP	c.(15484-15486)GAT>AAT	32	32			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28	Broad	obscurin, cytoskeletal calmodulin and			228511139		0.537	ENSG00000154358	10621	g.chr1:228511139G>A	apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			4006			4006	0.960955	KEEP	1	3	-1	25	22	1	3	-1	9.431397	25	22	0.083333	1	0	0	0	0	1	0	0	0	--	--		0	A			OBSCN_uc001hsn.2_Missense_Mutation_p.D5162N	90	GBM-06-2569-TP	p.D5162N	G	CTGGTTCAAGGATGGGAAGTT	NM_001098623	NP_001092093	228511139	Q5VST9	OBSCN_HUMAN	0			56	15528	+	A	A		Prostate(94;0.0405)	Missense_Mutation	5162			Ig-like 49.			
OBSCN	84033	broad.mit.edu	GRCh37	1	228511261	228511261	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2569-01	TCGA-06-2569-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000570156.2:c.18477G>A	p.Glu6159=	p.E6159=	ENST00000570156	NM_001271223.2	6159	gaG/gaA	0			1			A	E	uc009xez.1	protein_coding		CCDS58065.1			15606/23907									stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28	c.(15604-15606)GAG>GAA			PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF17,hmmpanther:PTHR19897,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	obscurin, cytoskeletal calmodulin and				ENSP00000409493		56/105									COSM3400426,COSM3400427,COSM3400425	56/105	.		ENST00000422127	Transcript			apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	ENSG00000154358	g.chr1:228511261G>A	15719			LOW								--	--	1																																		OBSCN_uc001hsn.2_Silent_p.E5202E	1,1,1				p.E5202E	NM_001098623	NP_001092093			1,1,1	OBSCN_HUMAN	OBSCN	HGNC	Q5VST9	OBSCN_HUMAN					56	15650	+		Prostate(94;0.0405)	UPI0001838884	5202			Ig-like 49.		SNV	OBSCN,synonymous_variant,p.=,ENST00000570156,NM_001271223.2;OBSCN,synonymous_variant,p.=,ENST00000366707,;OBSCN,synonymous_variant,p.=,ENST00000422127,NM_001098623.2;OBSCN,synonymous_variant,p.=,ENST00000284548,NM_052843.3;OBSCN,synonymous_variant,p.=,ENST00000366709,;	uc009xez.1	c.15606G>A	15650/24030	2	2			c.15606G>A						1	SNP	c.(15604-15606)GAG>GAA	26	26			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28	Broad	obscurin, cytoskeletal calmodulin and			228511261		0.577	ENSG00000154358	10621	g.chr1:228511261G>A	apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			4006			4006	1.605407	KEEP	4	0	-1	20	18	4	0	-1	7.687031	20	18	0.085714	1	0	0	0	0	0	0	1	0	--	--		0	A			OBSCN_uc001hsn.2_Silent_p.E5202E	90	GBM-06-2569-TP	p.E5202E	G	GCCTGGCCGAGAACAGCATGG	NM_001098623	NP_001092093	228511261	Q5VST9	OBSCN_HUMAN	0			56	15650	+	A	A		Prostate(94;0.0405)	Silent	5202			Ig-like 49.			
OBSCN	0	broad.mit.edu	GRCh37	1	228466482	228466482	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01	TCGA-12-1597-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000422127.1:c.6952G>A	p.Ala2318Thr	p.A2318T	ENST00000422127	NM_001098623.2	2318	Gcc/Acc	0			1			A	A/T	uc009xez.1	protein_coding		CCDS58065.1			6952/23907									stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28	c.(6952-6954)GCC>ACC			PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF17,hmmpanther:PTHR19897,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	obscurin, cytoskeletal calmodulin and				ENSP00000409493		26/105	8.26E-06					1.51E-05			rs758890771,COSM3400394,COSM3400395,COSM3400396,COSM3400393	26/105	.		ENST00000422127	Transcript			apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	ENSG00000154358	g.chr1:228466482G>A	15719			MODERATE		2.535	medium	getma.org/?cm=msa&ty=f&p=OBSCN_HUMAN&rb=2290&re=2373&var=A2318T	getma.org/pdb.php?prot=OBSCN_HUMAN&from=2290&to=2373&var=A2318T	getma.org/?cm=var&var=hg19,1,228466482,G,A&fts=all	A2318T	--	--	1																																		OBSCN_uc001hsn.2_Missense_Mutation_p.A2318T|OBSCN_uc001hsp.1_Missense_Mutation_p.A17T|OBSCN_uc001hsq.1_5'Flank	0,1,1,1,1			probably_damaging(0.993)	p.A2318T	NM_001098623	NP_001092093			0,1,1,1,1	OBSCN_HUMAN	OBSCN	HGNC	Q5VST9	OBSCN_HUMAN					26	6996	+		Prostate(94;0.0405)	UPI0001838884	2318			Ig-like 23.		SNV	OBSCN,missense_variant,p.Ala2747Thr,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Ala2318Thr,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Ala2318Thr,ENST00000284548,NM_052843.3;OBSCN,missense_variant,p.Ala1165Thr,ENST00000359599,;OBSCN,missense_variant,p.Ala166Thr,ENST00000366706,;OBSCN,5_prime_UTR_variant,,ENST00000366707,;OBSCN,5_prime_UTR_variant,,ENST00000366709,;OBSCN,upstream_gene_variant,,ENST00000483539,;RP5-1139B12.2,upstream_gene_variant,,ENST00000602517,;RP5-1139B12.3,upstream_gene_variant,,ENST00000602529,;RP5-1139B12.3,upstream_gene_variant,,ENST00000602947,;OBSCN,upstream_gene_variant,,ENST00000366704,;	uc009xez.1	c.6952G>A	6996/24030	2	2			c.6952G>A						1	SNP	c.(6952-6954)GCC>ACC	46	46			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28	Broad	obscurin, cytoskeletal calmodulin and			228466482		0.637	ENSG00000154358	10621	g.chr1:228466482G>A	apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			4006			4006	72.908113	KEEP	12	14	-1	13	9	12	14	-1	73.096855	13	9	0.571429	1	0	0	0	0	1	0	0	0	--	--		0	A			OBSCN_uc001hsn.2_Missense_Mutation_p.A2318T|OBSCN_uc001hsp.1_Missense_Mutation_p.A17T|OBSCN_uc001hsq.1_5'Flank	124	GBM-12-1597-TP	p.A2318T	G	CCGGGCCAGCGCCCAGGTGCG	NM_001098623	NP_001092093	228466482	Q5VST9	OBSCN_HUMAN	0			26	6996	+	A	A		Prostate(94;0.0405)	Missense_Mutation	2318			Ig-like 23.			
OBSCN	0	broad.mit.edu	GRCh37	1	228400217	228400217	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01	TCGA-14-1395-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000422127.1:c.733C>T	p.Arg245Cys	p.R245C	ENST00000422127	NM_001098623.2	245	Cgc/Tgc	0			1			T	R/C	uc009xez.1	protein_coding		CCDS58065.1			733/23907									stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28	c.(733-735)CGC>TGC			PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF17,hmmpanther:PTHR19897,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	obscurin, cytoskeletal calmodulin and				ENSP00000409493		2/105									COSM246164,COSM1218234,COSM246165,COSM1218233	2/105	.		ENST00000422127	Transcript			apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	ENSG00000154358	g.chr1:228400217C>T	15719			MODERATE		2.51	medium	getma.org/?cm=msa&ty=f&p=OBSCN_HUMAN&rb=241&re=328&var=R245C	getma.org/pdb.php?prot=OBSCN_HUMAN&from=241&to=328&var=R245C	getma.org/?cm=var&var=hg19,1,228400217,C,T&fts=all	R245C	--	--	1																																		OBSCN_uc001hsn.2_Missense_Mutation_p.R245C|uc001hsm.1_Intron	1,1,1,1			probably_damaging(0.999)	p.R245C	NM_001098623	NP_001092093			1,1,1,1	OBSCN_HUMAN	OBSCN	HGNC	Q5VST9	OBSCN_HUMAN					2	777	+		Prostate(94;0.0405)	UPI0001838884	245			Ig-like 3.		SNV	OBSCN,missense_variant,p.Arg245Cys,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Arg245Cys,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Arg245Cys,ENST00000284548,NM_052843.3;OBSCN,5_prime_UTR_variant,,ENST00000366707,;OBSCN,5_prime_UTR_variant,,ENST00000366709,;C1orf145,intron_variant,,ENST00000295012,;OBSCN,upstream_gene_variant,,ENST00000493977,;C1orf145,splice_region_variant,,ENST00000337335,;C1orf145,intron_variant,,ENST00000472613,;	uc009xez.1	c.733C>T	777/24030	2	2			c.733C>T						1	SNP	c.(733-735)CGC>TGC	42	42			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28	Broad	obscurin, cytoskeletal calmodulin and			228400217		0.746	ENSG00000154358	10621	g.chr1:228400217C>T	apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			4006			4006	26.571585	KEEP	3	9	-1	14	21	3	9	-1	29.129867	14	21	0.255319	1	0	0	0	0	1	0	0	0	--	--		0	T			OBSCN_uc001hsn.2_Missense_Mutation_p.R245C|uc001hsm.1_Intron	144	GBM-14-1395-TP	p.R245C	C	CACCGGCACGCGCACCTGCAC	NM_001098623	NP_001092093	228400217	Q5VST9	OBSCN_HUMAN	0			2	777	+	T	T		Prostate(94;0.0405)	Missense_Mutation	245			Ig-like 3.			
OBSCN	0	broad.mit.edu	GRCh37	1	228479711	228479711	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-2554-01	TCGA-14-2554-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000422127.1:c.10452G>A	p.Gly3484=	p.G3484=	ENST00000422127	NM_001098623.2	3484	ggG/ggA	0			1			A	G	uc009xez.1	protein_coding		CCDS58065.1			10452/23907									stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28	c.(10450-10452)GGG>GGA			PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF17,hmmpanther:PTHR19897,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	obscurin, cytoskeletal calmodulin and				ENSP00000409493		39/105									COSM3400410,COSM3400411,COSM3400412,COSM3400409	39/105	.		ENST00000422127	Transcript			apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	ENSG00000154358	g.chr1:228479711G>A	15719			LOW								--	--	1																																		OBSCN_uc001hsn.2_Silent_p.G3484G|OBSCN_uc001hsq.1_Silent_p.G740G	1,1,1,1				p.G3484G	NM_001098623	NP_001092093			1,1,1,1	OBSCN_HUMAN	OBSCN	HGNC	Q5VST9	OBSCN_HUMAN					39	10496	+		Prostate(94;0.0405)	UPI0001838884	3484			Ig-like 35.		SNV	OBSCN,synonymous_variant,p.=,ENST00000570156,NM_001271223.2;OBSCN,synonymous_variant,p.=,ENST00000366707,;OBSCN,synonymous_variant,p.=,ENST00000422127,NM_001098623.2;OBSCN,synonymous_variant,p.=,ENST00000284548,NM_052843.3;OBSCN,synonymous_variant,p.=,ENST00000366709,;OBSCN,synonymous_variant,p.=,ENST00000359599,;OBSCN,synonymous_variant,p.=,ENST00000483539,;RP5-1139B12.4,downstream_gene_variant,,ENST00000602778,;OBSCN,upstream_gene_variant,,ENST00000494839,;	uc009xez.1	c.10452G>A	10496/24030	1	1			c.10452G>A						1	SNP	c.(10450-10452)GGG>GGA	63	63			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28	Broad	obscurin, cytoskeletal calmodulin and			228479711		0.617	ENSG00000154358	10621	g.chr1:228479711G>A	apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			4006			4006	106.107288	KEEP	20	19	-1	28	21	20	19	-1	106.368726	28	21	0.439024	1	0	0	0	0	0	0	1	0	--	--		0	A			OBSCN_uc001hsn.2_Silent_p.G3484G|OBSCN_uc001hsq.1_Silent_p.G740G	150	GBM-14-2554-TP	p.G3484G	G	GGAGGAAGGGGCCCGAGAACC	NM_001098623	NP_001092093	228479711	Q5VST9	OBSCN_HUMAN	0			39	10496	+	A	A		Prostate(94;0.0405)	Silent	3484			Ig-like 35.			
OBSCN	0	broad.mit.edu	GRCh37	1	228509734	228509734	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000422127.1:c.15192G>A	p.Ala5064=	p.A5064=	ENST00000422127	NM_001098623.2	5064	gcG/gcA	0			1			A	A	uc009xez.1	protein_coding		CCDS58065.1			15192/23907									stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28	c.(15190-15192)GCG>GCA			hmmpanther:PTHR19897:SF17,hmmpanther:PTHR19897	obscurin, cytoskeletal calmodulin and				ENSP00000409493		55/105	2.48E-05					1.81E-05		0.00014	rs753852976,COSM3400420,COSM3400421,COSM3400419	55/105	.		ENST00000422127	Transcript			apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	ENSG00000154358	g.chr1:228509734G>A	15719			LOW								--	--	1																																		OBSCN_uc001hsn.2_Silent_p.A5064A	0,1,1,1				p.A5064A	NM_001098623	NP_001092093			0,1,1,1	OBSCN_HUMAN	OBSCN	HGNC	Q5VST9	OBSCN_HUMAN					55	15236	+		Prostate(94;0.0405)	UPI0001838884	5064					SNV	OBSCN,synonymous_variant,p.=,ENST00000570156,NM_001271223.2;OBSCN,synonymous_variant,p.=,ENST00000366707,;OBSCN,synonymous_variant,p.=,ENST00000422127,NM_001098623.2;OBSCN,synonymous_variant,p.=,ENST00000284548,NM_052843.3;OBSCN,synonymous_variant,p.=,ENST00000366709,;	uc009xez.1	c.15192G>A	15236/24030	1	1			c.15192G>A						1	SNP	c.(15190-15192)GCG>GCA	54	54			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28	Broad	obscurin, cytoskeletal calmodulin and			228509734		0.612	ENSG00000154358	10621	g.chr1:228509734G>A	apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			4006			4006	14.072466	KEEP	1	4	-1	4	3	1	4	-1	14.145279	4	3	0.416667	1	0	0	0	0	0	0	1	0	--	--		0	A			OBSCN_uc001hsn.2_Silent_p.A5064A	177	GBM-19-5959-TP	p.A5064A	G	GTTTTGAGGCGCTCACTGAGG	NM_001098623	NP_001092093	228509734	Q5VST9	OBSCN_HUMAN	0			55	15236	+	A	A		Prostate(94;0.0405)	Silent	5064						
OBSCN	0	broad.mit.edu	GRCh37	1	228505193	228505193	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-5960-01	TCGA-19-5960-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000422127.1:c.13590G>T	p.Glu4530Asp	p.E4530D	ENST00000422127	NM_001098623.2	4530	gaG/gaT	0			1			T	E/D	uc009xez.1	protein_coding		CCDS58065.1			13590/23907									stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28	c.(13588-13590)GAG>GAT			PROSITE_profiles:PS50853,hmmpanther:PTHR19897:SF17,hmmpanther:PTHR19897,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	obscurin, cytoskeletal calmodulin and				ENSP00000409493		52/105									COSM3400417,COSM3400418,COSM3400416	52/105	.		ENST00000422127	Transcript			apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	ENSG00000154358	g.chr1:228505193G>T	15719			MODERATE		1.815	low	getma.org/?cm=msa&ty=f&p=OBSCN_HUMAN&rb=4524&re=4607&var=E4530D	getma.org/pdb.php?prot=OBSCN_HUMAN&from=4524&to=4607&var=E4530D	getma.org/?cm=var&var=hg19,1,228505193,G,T&fts=all	E4530D	--	--	1																																		OBSCN_uc001hsn.2_Missense_Mutation_p.E4530D	1,1,1			probably_damaging(0.996)	p.E4530D	NM_001098623	NP_001092093			1,1,1	OBSCN_HUMAN	OBSCN	HGNC	Q5VST9	OBSCN_HUMAN					52	13634	+		Prostate(94;0.0405)	UPI0001838884	4530			Fibronectin type-III 3.		SNV	OBSCN,missense_variant,p.Glu5487Asp,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Glu2164Asp,ENST00000366707,;OBSCN,missense_variant,p.Glu4530Asp,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Glu4530Asp,ENST00000284548,NM_052843.3;OBSCN,missense_variant,p.Glu1649Asp,ENST00000366709,;	uc009xez.1	c.13590G>T	13634/24030	1	1			c.13590G>T						1	SNP	c.(13588-13590)GAG>GAT	6	6			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28	Broad	obscurin, cytoskeletal calmodulin and			228505193		0.647	ENSG00000154358	10621	g.chr1:228505193G>T	apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			4006			4006	37.698149	KEEP	9	4	0.692307692	6	11	9	4	0.692307692	37.70689	6	11	0.48	1	0	0	0	0	1	0	0	0	--	--		0	T			OBSCN_uc001hsn.2_Missense_Mutation_p.E4530D	178	GBM-19-5960-TP	p.E4530D	G	AGGATGCTGAGGTGGTGGCTC	NM_001098623	NP_001092093	228505193	Q5VST9	OBSCN_HUMAN	0			52	13634	+	T	T		Prostate(94;0.0405)	Missense_Mutation	4530			Fibronectin type-III 3.			
OBSCN	0	broad.mit.edu	GRCh37	1	228468436	228468436	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-2528-01	TCGA-27-2528-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000422127.1:c.8136C>T	p.Asp2712=	p.D2712=	ENST00000422127	NM_001098623.2	2712	gaC/gaT	0			1			T	D	uc009xez.1	protein_coding		CCDS58065.1			8136/23907									stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28	c.(8134-8136)GAC>GAT			PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF17,hmmpanther:PTHR19897,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,SMART_domains:SM00406,Superfamily_domains:SSF48726	obscurin, cytoskeletal calmodulin and				ENSP00000409493		30/105	1.65E-05					3.17E-05			rs766926346,COSM3400402,COSM3400403,COSM3400404,COSM3400401	30/105	.		ENST00000422127	Transcript			apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	ENSG00000154358	g.chr1:228468436C>T	15719			LOW								--	--	1																																		OBSCN_uc001hsn.2_Silent_p.D2712D|OBSCN_uc001hsp.1_Silent_p.D411D|OBSCN_uc001hsq.1_Translation_Start_Site	0,1,1,1,1				p.D2712D	NM_001098623	NP_001092093			0,1,1,1,1	OBSCN_HUMAN	OBSCN	HGNC	Q5VST9	OBSCN_HUMAN					30	8180	+		Prostate(94;0.0405)	UPI0001838884	2712			Ig-like 26.		SNV	OBSCN,synonymous_variant,p.=,ENST00000570156,NM_001271223.2;OBSCN,synonymous_variant,p.=,ENST00000422127,NM_001098623.2;OBSCN,synonymous_variant,p.=,ENST00000284548,NM_052843.3;OBSCN,synonymous_variant,p.=,ENST00000359599,;OBSCN,synonymous_variant,p.=,ENST00000366706,;OBSCN,5_prime_UTR_variant,,ENST00000366707,;OBSCN,5_prime_UTR_variant,,ENST00000366709,;OBSCN,upstream_gene_variant,,ENST00000483539,;RP5-1139B12.3,upstream_gene_variant,,ENST00000602529,;RP5-1139B12.3,upstream_gene_variant,,ENST00000602947,;OBSCN,non_coding_transcript_exon_variant,,ENST00000366704,;	uc009xez.1	c.8136C>T	8180/24030	1	1			c.8136C>T						1	SNP	c.(8134-8136)GAC>GAT	6	6			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28	Broad	obscurin, cytoskeletal calmodulin and			228468436		0.692	ENSG00000154358	10621	g.chr1:228468436C>T	apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			4006			4006	1.787422	KEEP	3	1	-1	25	15	3	1	-1	8.168894	25	15	0.1	1	0	0	0	0	0	0	1	0	--	--		0	T			OBSCN_uc001hsn.2_Silent_p.D2712D|OBSCN_uc001hsp.1_Silent_p.D411D|OBSCN_uc001hsq.1_Translation_Start_Site	205	GBM-27-2528-TP	p.D2712D	C	GCCCTGAAGACGCCGGCCTGT	NM_001098623	NP_001092093	228468436	Q5VST9	OBSCN_HUMAN	0			30	8180	+	T	T		Prostate(94;0.0405)	Silent	2712			Ig-like 26.			
OBSCN	0	broad.mit.edu	GRCh37	1	228529316	228529316	+	splice_donor_variant	Splice_Site	SNP	G	G	A			TCGA-28-2509-01	TCGA-28-2509-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000422127.1:c.18034+1G>A		p.X6012_splice	ENST00000422127	NM_001098623.2			0			1			A		uc009xez.1	protein_coding		CCDS58065.1			18034/23907									stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28	c.e74+1				obscurin, cytoskeletal calmodulin and				ENSP00000409493			8.26E-06							6.39E-05	rs775669058,COSM3400429,COSM3400430,COSM3400428		.		ENST00000422127	Transcript			apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	ENSG00000154358	g.chr1:228529316G>A	15719			HIGH	74/104							--	--	1																																		OBSCN_uc001hsn.2_Splice_Site_p.R6012_splice|OBSCN_uc001hsr.1_Splice_Site_p.R641_splice	0,1,1,1				p.R6012_splice	NM_001098623	NP_001092093			0,1,1,1	OBSCN_HUMAN	OBSCN	HGNC	Q5VST9	OBSCN_HUMAN					74	18078	+		Prostate(94;0.0405)	UPI0001838884						SNV	OBSCN,splice_donor_variant,,ENST00000570156,NM_001271223.2;OBSCN,splice_donor_variant,,ENST00000366707,;OBSCN,splice_donor_variant,,ENST00000422127,NM_001098623.2;OBSCN,splice_donor_variant,,ENST00000284548,NM_052843.3;OBSCN,splice_donor_variant,,ENST00000366709,;OBSCN,splice_donor_variant,,ENST00000441106,;	uc009xez.1	c.18034_splice	-/24030	5	2			c.18034_splice						1	SNP	c.e74+1	25	25			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28	Broad	obscurin, cytoskeletal calmodulin and			228529316		0.667	ENSG00000154358	10621	g.chr1:228529316G>A	apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			4006			4006	21.493558	KEEP	7	5	-1	6	20	7	5	-1	22.083197	6	20	0.333333	1	0	0	0	0	0	0	0	1	--	--		0	A			OBSCN_uc001hsn.2_Splice_Site_p.R6012_splice|OBSCN_uc001hsr.1_Splice_Site_p.R641_splice	211	GBM-28-2509-TP	p.R6012_splice	G	CCTGTGTGGCGTGAGTGTCCA	NM_001098623	NP_001092093	228529316	Q5VST9	OBSCN_HUMAN	0			74	18078	+	A	A		Prostate(94;0.0405)	Splice_Site							
OBSCN	0	broad.mit.edu	GRCh37	1	228404990	228404990	+	splice_donor_variant	Splice_Site	SNP	G	G	T			TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000422127.1:c.2653+1G>T		p.X885_splice	ENST00000422127	NM_001098623.2			0			1			T		uc009xez.1	protein_coding		CCDS58065.1			2653/23907									stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28	c.e8+1				obscurin, cytoskeletal calmodulin and				ENSP00000409493											COSM3400382,COSM3400383,COSM3400384,COSM3400381		.		ENST00000422127	Transcript			apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	ENSG00000154358	g.chr1:228404990G>T	15719			HIGH	8/104							--	--	1																																		OBSCN_uc001hsn.2_Splice_Site_p.E885_splice	1,1,1,1				p.E885_splice	NM_001098623	NP_001092093			1,1,1,1	OBSCN_HUMAN	OBSCN	HGNC	Q5VST9	OBSCN_HUMAN					8	2697	+		Prostate(94;0.0405)	UPI0001838884						SNV	OBSCN,splice_donor_variant,,ENST00000570156,NM_001271223.2;OBSCN,splice_donor_variant,,ENST00000366707,;OBSCN,splice_donor_variant,,ENST00000422127,NM_001098623.2;OBSCN,splice_donor_variant,,ENST00000284548,NM_052843.3;OBSCN,splice_donor_variant,,ENST00000366709,;C1orf145,upstream_gene_variant,,ENST00000295012,;OBSCN,splice_donor_variant,,ENST00000493977,;C1orf145,upstream_gene_variant,,ENST00000337335,;C1orf145,upstream_gene_variant,,ENST00000472613,;	uc009xez.1	c.2653_splice	-/24030	5	1			c.2653_splice						1	SNP	c.e8+1	1	1			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28	Broad	obscurin, cytoskeletal calmodulin and			228404990		0.652	ENSG00000154358	10621	g.chr1:228404990G>T	apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			4006			4006	31.371262	KEEP	7	7	0.5	22	27	7	7	0.5	35.014033	22	27	0.226415	1	0	0	0	0	0	0	0	1	--	--		0	T			OBSCN_uc001hsn.2_Splice_Site_p.E885_splice	235	GBM-32-2491-TP	p.E885_splice	G	CGCGTCTCTGGTGAGCACGCT	NM_001098623	NP_001092093	228404990	Q5VST9	OBSCN_HUMAN	0			8	2697	+	T	T		Prostate(94;0.0405)	Splice_Site							
OBSCN	0	broad.mit.edu	GRCh37	1	228564891	228564891	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2638-01	TCGA-32-2638-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000422127.1:c.23178G>A	p.Pro7726=	p.P7726=	ENST00000422127	NM_001098623.2	7726	ccG/ccA	0			1			A	P	uc009xez.1	protein_coding		CCDS58065.1			23178/23907									stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28	c.(23176-23178)CCG>CCA			PROSITE_profiles:PS50011,hmmpanther:PTHR19897:SF17,hmmpanther:PTHR19897,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	obscurin, cytoskeletal calmodulin and				ENSP00000409493		101/105									COSM3400442,COSM3400441	101/105	.		ENST00000422127	Transcript			apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	ENSG00000154358	g.chr1:228564891G>A	15719			LOW								--	--	1																																		OBSCN_uc001hsr.1_Silent_p.P2355P	1,1				p.P7726P	NM_001098623	NP_001092093			1,1	OBSCN_HUMAN	OBSCN	HGNC	Q5VST9	OBSCN_HUMAN					101	23222	+		Prostate(94;0.0405)	UPI0001838884	7726			Protein kinase 2.		SNV	OBSCN,synonymous_variant,p.=,ENST00000570156,NM_001271223.2;OBSCN,synonymous_variant,p.=,ENST00000366707,;OBSCN,synonymous_variant,p.=,ENST00000422127,NM_001098623.2;OBSCN,synonymous_variant,p.=,ENST00000441106,;	uc009xez.1	c.23178G>A	23222/24030	2	2			c.23178G>A						1	SNP	c.(23176-23178)CCG>CCA	43	43			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28	Broad	obscurin, cytoskeletal calmodulin and			228564891		0.697	ENSG00000154358	10621	g.chr1:228564891G>A	apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			4006			4006	10.595527	KEEP	4	2	-1	3	5	4	2	-1	10.890971	3	5	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	A			OBSCN_uc001hsr.1_Silent_p.P2355P	242	GBM-32-2638-TP	p.P7726P	G	TGCGCCACCCGCACCTGGCCC	NM_001098623	NP_001092093	228564891	Q5VST9	OBSCN_HUMAN	0			101	23222	+	A	A		Prostate(94;0.0405)	Silent	7726			Protein kinase 2.			
OBSCN	0	broad.mit.edu	GRCh37	1	228557666	228557666	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01	TCGA-41-3393-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000422127.1:c.19991C>T	p.Ala6664Val	p.A6664V	ENST00000422127	NM_001098623.2	6664	gCc/gTc	0			1			T	A/V	uc009xez.1	protein_coding		CCDS58065.1			19991/23907									stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28	c.(19990-19992)GCC>GTC			PROSITE_profiles:PS50011,hmmpanther:PTHR19897:SF17,hmmpanther:PTHR19897,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	obscurin, cytoskeletal calmodulin and				ENSP00000409493		91/105									COSM3400432,COSM3400431	91/105	.		ENST00000422127	Transcript			apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	ENSG00000154358	g.chr1:228557666C>T	15719			MODERATE		0.985	low	getma.org/?cm=msa&ty=f&p=OBSCN_HUMAN&rb=6468&re=6721&var=A6664V	getma.org/pdb.php?prot=OBSCN_HUMAN&from=6468&to=6721&var=A6664V	getma.org/?cm=var&var=hg19,1,228557666,C,T&fts=all	A6664V	--	--	1																																		OBSCN_uc001hsr.1_Missense_Mutation_p.A1293V	1,1			probably_damaging(0.992)	p.A6664V	NM_001098623	NP_001092093			1,1	OBSCN_HUMAN	OBSCN	HGNC	Q5VST9	OBSCN_HUMAN					91	20035	+		Prostate(94;0.0405)	UPI0001838884	6664			Protein kinase 1.		SNV	OBSCN,missense_variant,p.Ala7621Val,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Ala4298Val,ENST00000366707,;OBSCN,missense_variant,p.Ala6664Val,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Ala1281Val,ENST00000441106,;	uc009xez.1	c.19991C>T	20035/24030	1	1			c.19991C>T						1	SNP	c.(19990-19992)GCC>GTC	3	3			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28	Broad	obscurin, cytoskeletal calmodulin and			228557666		0.632	ENSG00000154358	10621	g.chr1:228557666C>T	apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			4006			4006	-27.805891	KEEP	4	1	-1	79	82	4	1	-1	6.435729	79	82	0.028571	1	0	0	0	0	1	0	0	0	--	--		0	T			OBSCN_uc001hsr.1_Missense_Mutation_p.A1293V	255	GBM-41-3393-TP	p.A6664V	C	TCCCCATTTGCCGGCGAGAGT	NM_001098623	NP_001092093	228557666	Q5VST9	OBSCN_HUMAN	0			91	20035	+	T	T		Prostate(94;0.0405)	Missense_Mutation	6664			Protein kinase 1.			
OBSCN	0	broad.mit.edu	GRCh37	1	228557749	228557749	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000422127.1:c.20074G>A	p.Glu6692Lys	p.E6692K	ENST00000422127	NM_001098623.2	6692	Gaa/Aaa	0			1			A	E/K	uc009xez.1	protein_coding		CCDS58065.1			20074/23907									stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28	c.(20074-20076)GAA>AAA			PROSITE_profiles:PS50011,hmmpanther:PTHR19897:SF17,hmmpanther:PTHR19897,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	obscurin, cytoskeletal calmodulin and				ENSP00000409493		91/105	4.96E-05					3.03E-05		0.000243	rs780930470,COSM3400436,COSM3400435	91/105	.		ENST00000422127	Transcript			apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	ENSG00000154358	g.chr1:228557749G>A	15719			MODERATE		1.645	low	getma.org/?cm=msa&ty=f&p=OBSCN_HUMAN&rb=6468&re=6721&var=E6692K	getma.org/pdb.php?prot=OBSCN_HUMAN&from=6468&to=6721&var=E6692K	getma.org/?cm=var&var=hg19,1,228557749,G,A&fts=all	E6692K	--	--	1																																		OBSCN_uc001hsr.1_Missense_Mutation_p.E1321K	0,1,1			probably_damaging(0.988)	p.E6692K	NM_001098623	NP_001092093			0,1,1	OBSCN_HUMAN	OBSCN	HGNC	Q5VST9	OBSCN_HUMAN					91	20118	+		Prostate(94;0.0405)	UPI0001838884	6692			Protein kinase 1.		SNV	OBSCN,missense_variant,p.Glu7649Lys,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Glu4326Lys,ENST00000366707,;OBSCN,missense_variant,p.Glu6692Lys,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Glu1309Lys,ENST00000441106,;	uc009xez.1	c.20074G>A	20118/24030	2	2			c.20074G>A						1	SNP	c.(20074-20076)GAA>AAA	33	33			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28	Broad	obscurin, cytoskeletal calmodulin and			228557749		0.667	ENSG00000154358	10621	g.chr1:228557749G>A	apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			4006			4006	167.780148	KEEP	35	34	-1	81	76	35	34	-1	175.798883	81	76	0.293839	1	0	0	0	0	1	0	0	0	--	--		0	A			OBSCN_uc001hsr.1_Missense_Mutation_p.E1321K	271	GBM-76-4932-TP	p.E6692K	G	CCACCTCAGCGAAGACGCCAA	NM_001098623	NP_001092093	228557749	Q5VST9	OBSCN_HUMAN	0			91	20118	+	A	A		Prostate(94;0.0405)	Missense_Mutation	6692			Protein kinase 1.			
OBSCN	84033		GRCh37	1	228494214	228494214	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000570156.2:c.14672G>A	p.Arg4891His	p.R4891H	ENST00000570156	NM_001271223.2	4891	cGc/cAc	0																																																																																																																																																																																																																																												
OBSL1	23363	broad.mit.edu	GRCh37	2	220422920	220422920	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-02-0003-01	TCGA-02-0003-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000404537.1:c.3488A>G	p.Asn1163Ser	p.N1163S	ENST00000404537	NM_015311.2	1163	aAt/aGt	0			1			C	N/S	uc010fwk.2	protein_coding	YES	CCDS46520.1			3488/5691										0	c.(3487-3489)AAT>AGT			PROSITE_profiles:PS50835,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF1,SMART_domains:SM00409,Superfamily_domains:SSF48726	obscurin-like 1				ENSP00000385636		21-Oct									COSM2148902	21-Oct	.		ENST00000404537	Transcript	1		cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	ENSG00000124006	g.chr2:220422920T>C	29092			MODERATE		0.48	neutral	getma.org/?cm=msa&ty=f&p=OBSL1_HUMAN&rb=1078&re=1172&var=N1163S	getma.org/pdb.php?prot=OBSL1_HUMAN&from=1078&to=1172&var=N1163S	getma.org/?cm=var&var=hg19,2,220422920,T,C&fts=all	N1163S	--	--	1																																		OBSL1_uc002vmh.1_Missense_Mutation_p.N154S|OBSL1_uc010zli.1_Intron|OBSL1_uc010fwl.1_Missense_Mutation_p.N638S	1	1		benign(0.019)	p.N1163S	NM_015311	NP_056126		tolerated(0.23)	1	OBSL1_HUMAN	OBSL1	HGNC	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)			10	3545	-		Renal(207;0.0376)	UPI0000E07EA0	1163			Ig-like 9.		SNV	OBSL1,missense_variant,p.Asn1163Ser,ENST00000404537,NM_015311.2;OBSL1,missense_variant,p.Asn1163Ser,ENST00000603926,NM_001173431.1;OBSL1,missense_variant,p.Asn1163Ser,ENST00000373876,;OBSL1,missense_variant,p.Asn154Ser,ENST00000265317,;OBSL1,missense_variant,p.Asn157Ser,ENST00000456147,;OBSL1,intron_variant,,ENST00000265318,;OBSL1,intron_variant,,ENST00000604031,;OBSL1,downstream_gene_variant,,ENST00000373873,NM_001173408.1;OBSL1,downstream_gene_variant,,ENST00000289656,;RP11-256I23.2,upstream_gene_variant,,ENST00000597192,;OBSL1,intron_variant,,ENST00000465149,;OBSL1,downstream_gene_variant,,ENST00000462385,;OBSL1,upstream_gene_variant,,ENST00000472388,;OBSL1,upstream_gene_variant,,ENST00000596474,;	uc010fwk.2	c.3488A>G	3545/5841	3	3			c.3488A>G						2	SNP	c.(3487-3489)AAT>AGT	11	11				0	Broad	obscurin-like 1			220422920		0.657	ENSG00000124006	10622	g.chr2:220422920T>C	cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity							38.753876	KEEP	9	6	-1	18	12	9	6	-1	39.479282	18	12	0.351351	1	0	0	0	0	1	0	0	0	--	--		0	C			OBSL1_uc002vmh.1_Missense_Mutation_p.N154S|OBSL1_uc010zli.1_Intron|OBSL1_uc010fwl.1_Missense_Mutation_p.N638S	1	GBM-02-0003-TP	p.N1163S	T	CAGGATGACATTGAAGGTGAT	NM_015311	NP_056126	220422920	O75147	OBSL1_HUMAN	0		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	10	3545	-	C	C		Renal(207;0.0376)	Missense_Mutation	1163			Ig-like 9.			
OCA2	4948	broad.mit.edu	GRCh37	15	28202861	28202861	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-02-0055-01	TCGA-02-0055-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354638.3:c.1657G>C	p.Val553Leu	p.V553L	ENST00000354638	NM_000275.2	553	Gtc/Ctc	0			1			G	V/L	uc001zbh.3	protein_coding	YES	CCDS10020.1			1657/2517									ovary(3)|breast(1)|pancreas(1)	5	c.(1657-1659)GTC>CTC			hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF67,Pfam_domain:PF03600	oculocutaneous albinism II				ENSP00000346659		16/24									COSM2149067,COSM2149068	16/24	.	Oculocutaneous_Albinism	ENST00000354638	Transcript	1		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	ENSG00000104044	g.chr15:28202861C>G	8101			MODERATE		1.545	low	getma.org/?cm=msa&ty=f&p=P_HUMAN&rb=338&re=757&var=V553L	NA	getma.org/?cm=var&var=hg19,15,28202861,C,G&fts=all	V553L	--	--	1																																		OCA2_uc010ayv.2_Missense_Mutation_p.V529L	1,1	1		possibly_damaging(0.864)	p.V553L	NM_000275	NP_000266		deleterious(0.02)	1,1	P_HUMAN	OCA2	HGNC	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	C9JDV3_HUMAN		16	1767	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	UPI000013D158	553			Cytoplasmic (Potential).		SNV	OCA2,missense_variant,p.Val553Leu,ENST00000354638,NM_000275.2;OCA2,missense_variant,p.Val529Leu,ENST00000353809,;OCA2,missense_variant,p.Val553Leu,ENST00000382996,;	uc001zbh.3	c.1657G>C	1813/3186	3	3			c.1657G>C						15	SNP	c.(1657-1659)GTC>CTC	63	63			ovary(3)|breast(1)|pancreas(1)	5	Broad	oculocutaneous albinism II			28202861	Oculocutaneous_Albinism	0.617	ENSG00000104044	10624	g.chr15:28202861C>G	eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding							67.489221	KEEP	9	15	-1	40	35	9	15	-1	71.853911	40	35	0.264368	1	0	0	0	0	1	0	0	0	--	--		0	G			OCA2_uc010ayv.2_Missense_Mutation_p.V529L	4	GBM-02-0055-TP	p.V553L	C	AGGCGCCAGACGTGAATCTCG	NM_000275	NP_000266	28202861	Q04671	P_HUMAN	0		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	16	1767	-	G	G		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	Missense_Mutation	553			Cytoplasmic (Potential).			
OCA2	4948		GRCh37	15	28273201	28273201	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000354638.3:c.331C>T	p.Arg111Trp	p.R111W	ENST00000354638	NM_000275.2	111	Cgg/Tgg	0																																																																																																																																																																																																																																												
OCIAD1	0	broad.mit.edu	GRCh37	4	48853837	48853837	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-14-2554-01	TCGA-14-2554-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264312.7:c.392A>C	p.Lys131Thr	p.K131T	ENST00000264312	NM_017830.3	131	aAg/aCg	0			1			C	K/T	uc003gyo.2	protein_coding		CCDS3484.1			392/738										0	c.(391-393)AAG>ACG			hmmpanther:PTHR13336,hmmpanther:PTHR13336:SF4	OCIA domain containing 1 isoform 1				ENSP00000264312		9-Jul									COSM3409345	9-Jul	.		ENST00000264312	Transcript				endosome	protein binding	ENSG00000109180	g.chr4:48853837A>C	16074			MODERATE		1.085	low	getma.org/?cm=msa&ty=f&p=OCAD1_HUMAN&rb=113&re=245&var=K131T	NA	getma.org/?cm=var&var=hg19,4,48853837,A,C&fts=all	K131T	--	--	1																																		OCIAD1_uc011bzk.1_RNA|OCIAD1_uc003gyr.2_Missense_Mutation_p.K131T|OCIAD1_uc003gyp.2_Missense_Mutation_p.K131T|OCIAD1_uc003gys.2_Missense_Mutation_p.K131T|OCIAD1_uc003gyq.2_Missense_Mutation_p.K131T|OCIAD1_uc010igk.2_Missense_Mutation_p.K136T	1			benign(0.083)	p.K131T	NM_017830	NP_060300		tolerated(0.21)	1	OCAD1_HUMAN	OCIAD1	HGNC	Q9NX40	OCAD1_HUMAN			D6RIT9_HUMAN,D6RI08_HUMAN,D6RG39_HUMAN,D6RF07_HUMAN,D6RF01_HUMAN,D6RDK6_HUMAN,D6RDK1_HUMAN,D6RDI5_HUMAN,D6RC55_HUMAN,D6RBC5_HUMAN,D6RA54_HUMAN,D6R918_HUMAN		7	649	+			UPI0000073D7F	131					SNV	OCIAD1,missense_variant,p.Lys131Thr,ENST00000425583,NM_001079842.2;OCIAD1,missense_variant,p.Lys131Thr,ENST00000444354,NM_001079840.2,NM_001079841.2;OCIAD1,missense_variant,p.Lys131Thr,ENST00000381473,NM_001079839.2;OCIAD1,missense_variant,p.Lys131Thr,ENST00000508293,NM_001168254.1;OCIAD1,missense_variant,p.Lys131Thr,ENST00000264312,NM_017830.3;OCIAD1,missense_variant,p.Lys131Thr,ENST00000396448,;OCIAD1,missense_variant,p.Lys131Thr,ENST00000513391,;OCIAD1,missense_variant,p.Lys104Thr,ENST00000509122,;OCIAD1,missense_variant,p.Lys77Thr,ENST00000503016,;OCIAD1,missense_variant,p.Lys131Thr,ENST00000511102,;OCIAD1,missense_variant,p.Lys131Thr,ENST00000512236,;OCIAD1,missense_variant,p.Lys77Thr,ENST00000510824,;OCIAD1,missense_variant,p.Lys77Thr,ENST00000506801,;OCIAD1,missense_variant,p.Lys104Thr,ENST00000505922,;OCIAD1,missense_variant,p.Lys77Thr,ENST00000509246,;OCIAD1,downstream_gene_variant,,ENST00000514981,;OCIAD1,downstream_gene_variant,,ENST00000507210,;OCIAD1,downstream_gene_variant,,ENST00000509164,;OCIAD1,downstream_gene_variant,,ENST00000504654,;OCIAD1,downstream_gene_variant,,ENST00000509664,;OCIAD1,downstream_gene_variant,,ENST00000509963,;OCIAD1,downstream_gene_variant,,ENST00000508996,;OCIAD1-AS1,downstream_gene_variant,,ENST00000513576,;OCIAD1,non_coding_transcript_exon_variant,,ENST00000512981,;OCIAD1,upstream_gene_variant,,ENST00000508329,;OCIAD1,upstream_gene_variant,,ENST00000502972,;OCIAD1,downstream_gene_variant,,ENST00000513641,;OCIAD1,downstream_gene_variant,,ENST00000507546,;	uc003gyo.2	c.392A>C	582/1414	3	3			c.392A>C						4	SNP	c.(391-393)AAG>ACG	5	5				0	Broad	OCIA domain containing 1 isoform 1			48853837		0.333	ENSG00000109180	10626	g.chr4:48853837A>C		endosome	protein binding							-8.617334	KEEP	6	3	-1	81	58	6	3	-1	19.381774	81	58	0.058394	1	0	0	0	0	1	0	0	0	--	--		0	C			OCIAD1_uc011bzk.1_RNA|OCIAD1_uc003gyr.2_Missense_Mutation_p.K131T|OCIAD1_uc003gyp.2_Missense_Mutation_p.K131T|OCIAD1_uc003gys.2_Missense_Mutation_p.K131T|OCIAD1_uc003gyq.2_Missense_Mutation_p.K131T|OCIAD1_uc010igk.2_Missense_Mutation_p.K136T	150	GBM-14-2554-TP	p.K131T	A	TATTATCAAAAGTCAAAATAT	NM_017830	NP_060300	48853837	Q9NX40	OCAD1_HUMAN	0			7	649	+	C	C			Missense_Mutation	131						
OCLN	0	broad.mit.edu	GRCh37	5	68805174	68805174	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01	TCGA-19-5950-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355237.2:c.257C>T	p.Thr86Met	p.T86M	ENST00000355237	NM_002538.3	86	aCg/aTg	0			1			T	T/M	uc003jwu.2	protein_coding	YES	CCDS4006.1			257/1569										0	c.(256-258)ACG>ATG			Transmembrane_helices:TMhelix,PROSITE_profiles:PS51225,hmmpanther:PTHR23288:SF4,hmmpanther:PTHR23288,Pfam_domain:PF01284,PIRSF_domain:PIRSF005993,Superfamily_domains:SSF103473	occludin				ENSP00000347379		9-Mar	1.65E-05					3.00E-05			rs757935966,COSM2156582	9-Mar	.		ENST00000355237	Transcript	1					ENSG00000197822	g.chr5:68805174C>T	8104			MODERATE		2.67	medium	getma.org/?cm=msa&ty=f&p=OCLN_HUMAN&rb=57&re=263&var=T86M	NA	getma.org/?cm=var&var=hg19,5,68805174,C,T&fts=all	T86M	--	--	1																																		OCLN_uc003jwv.3_Missense_Mutation_p.T86M	0,1	1		probably_damaging(0.979)	p.T86M	NM_002538	NP_002529		deleterious(0)	0,1	OCLN_HUMAN	OCLN	HGNC				OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)			3	693	+		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	UPI00000341F0						SNV	OCLN,missense_variant,p.Thr86Met,ENST00000355237,NM_002538.3;OCLN,missense_variant,p.Thr86Met,ENST00000380766,;OCLN,missense_variant,p.Thr86Met,ENST00000396442,NM_001205254.1;OCLN,intron_variant,,ENST00000538151,NM_001205255.1;OCLN,intron_variant,,ENST00000542132,;GUSBP3,intron_variant,,ENST00000380759,;	uc003jwu.2	c.257C>T	693/6438	1	1			c.257C>T						5	SNP	c.(256-258)ACG>ATG	11	11				0	Broad	occludin			68805174		0.478	ENSG00000197822	10629	g.chr5:68805174C>T										193.888605	KEEP	39	31	-1	54	56	39	31	-1	195.580135	54	56	0.391566	1	0	0	0	0	1	0	0	0	--	--		0	T			OCLN_uc003jwv.3_Missense_Mutation_p.T86M	170	GBM-19-5950-TP	p.T86M	C	GTGGCCTCCACGCTTGCCTGG	NM_002538	NP_002529	68805174			0		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	3	693	+	T	T		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	Missense_Mutation							
OCRL	0	broad.mit.edu	GRCh37	X	128701326	128701326	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-16-1045-01	TCGA-16-1045-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371113.4:c.1452C>A	p.Asp484Glu	p.D484E	ENST00000371113	NM_000276.3	484	gaC/gaA	0			1			A	D/E	uc004euq.2	protein_coding	YES	CCDS35393.1			1452/2706									lung(2)|ovary(1)|kidney(1)	4	c.(1450-1452)GAC>GAA			hmmpanther:PTHR11200:SF121,hmmpanther:PTHR11200,Pfam_domain:PF03372,Gene3D:3.60.10.10,SMART_domains:SM00128,Superfamily_domains:SSF56219	phosphatidylinositol polyphosphate 5-phosphatase				ENSP00000360154		14/24									COSM3405947	14/24	.		ENST00000371113	Transcript	1		regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	ENSG00000122126	g.chrX:128701326C>A	8108			MODERATE		2.14	medium	getma.org/?cm=msa&ty=f&p=OCRL_HUMAN&rb=245&re=524&var=D484E	getma.org/pdb.php?prot=OCRL_HUMAN&from=245&to=524&var=D484E	getma.org/?cm=var&var=hg19,X,128701326,C,A&fts=all	D484E	--	--	1																																		OCRL_uc004eur.2_Missense_Mutation_p.D484E	1	1		probably_damaging(0.997)	p.D484E	NM_000276	NP_000267		deleterious(0)	1	OCRL_HUMAN	OCRL	HGNC	Q01968	OCRL_HUMAN					14	1617	+			UPI0000167B0B	484					SNV	OCRL,missense_variant,p.Asp484Glu,ENST00000371113,NM_000276.3;OCRL,missense_variant,p.Asp484Glu,ENST00000357121,NM_001587.3;	uc004euq.2	c.1452C>A	1617/5162	1	1			c.1452C>A						23	SNP	c.(1450-1452)GAC>GAA	53	53			lung(2)|ovary(1)|kidney(1)	4	Broad	phosphatidylinositol polyphosphate 5-phosphatase			128701326		0.393	ENSG00000122126	10632	g.chrX:128701326C>A	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding							16.152483	KEEP	7	10	0.588235294	58	57	7	10	0.588235294	33.918919	58	57	0.114754	1	0	0	0	0	1	0	0	0	--	--		0	A			OCRL_uc004eur.2_Missense_Mutation_p.D484E	157	GBM-16-1045-TP	p.D484E	C	CTAAAACAGACCGGTGGGATT	NM_000276	NP_000267	128701326	Q01968	OCRL_HUMAN	0			14	1617	+	A	A			Missense_Mutation	484						
OCRL	0	broad.mit.edu	GRCh37	X	128721074	128721074	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-19-1390-01	TCGA-19-1390-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371113.4:c.2235A>G	p.Leu745=	p.L745=	ENST00000371113	NM_000276.3	745	ctA/ctG	0			1			G	L	uc004euq.2	protein_coding	YES	CCDS35393.1			2235/2706									lung(2)|ovary(1)|kidney(1)	4	c.(2233-2235)CTA>CTG			PROSITE_profiles:PS50238,hmmpanther:PTHR11200:SF121,hmmpanther:PTHR11200,Gene3D:1.10.555.10,Pfam_domain:PF00620,SMART_domains:SM00324,Superfamily_domains:SSF48350	phosphatidylinositol polyphosphate 5-phosphatase				ENSP00000360154		20/24									COSM3405948	20/24	.		ENST00000371113	Transcript	1		regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	ENSG00000122126	g.chrX:128721074A>G	8108			LOW								--	--	1																																		OCRL_uc004eur.2_Silent_p.L737L|OCRL_uc010nrb.2_5'Flank	1	1			p.L745L	NM_000276	NP_000267			1	OCRL_HUMAN	OCRL	HGNC	Q01968	OCRL_HUMAN					20	2400	+			UPI0000167B0B	745			Rho-GAP.		SNV	OCRL,synonymous_variant,p.=,ENST00000371113,NM_000276.3;OCRL,synonymous_variant,p.=,ENST00000357121,NM_001587.3;OCRL,upstream_gene_variant,,ENST00000463271,;	uc004euq.2	c.2235A>G	2400/5162	3	3			c.2235A>G						23	SNP	c.(2233-2235)CTA>CTG	64	64			lung(2)|ovary(1)|kidney(1)	4	Broad	phosphatidylinositol polyphosphate 5-phosphatase			128721074		0.403	ENSG00000122126	10632	g.chrX:128721074A>G	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding							231.422909	KEEP	39	37	-1	71	83	39	37	-1	236.492355	71	83	0.336449	1	0	0	0	0	0	0	1	0	--	--		0	G			OCRL_uc004eur.2_Silent_p.L737L|OCRL_uc010nrb.2_5'Flank	159	GBM-19-1390-TP	p.L745L	A	TAGATCACCTATTCAAATACG	NM_000276	NP_000267	128721074	Q01968	OCRL_HUMAN	0			20	2400	+	G	G			Silent	745			Rho-GAP.			
OCRL	0	broad.mit.edu	GRCh37	X	128696660	128696660	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6191-01	TCGA-76-6191-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371113.4:c.1141G>A	p.Glu381Lys	p.E381K	ENST00000371113	NM_000276.3	381	Gag/Aag	0			1			A	E/K	uc004euq.2	protein_coding	YES	CCDS35393.1			1141/2706									lung(2)|ovary(1)|kidney(1)	4	c.(1141-1143)GAG>AAG			hmmpanther:PTHR11200:SF121,hmmpanther:PTHR11200,Pfam_domain:PF03372,Gene3D:3.60.10.10,SMART_domains:SM00128,Superfamily_domains:SSF56219	phosphatidylinositol polyphosphate 5-phosphatase				ENSP00000360154		24-Dec										24-Dec	.		ENST00000371113	Transcript	1		regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	ENSG00000122126	g.chrX:128696660G>A	8108			MODERATE		2.24	medium	getma.org/?cm=msa&ty=f&p=OCRL_HUMAN&rb=245&re=524&var=E381K	getma.org/pdb.php?prot=OCRL_HUMAN&from=245&to=524&var=E381K	getma.org/?cm=var&var=hg19,X,128696660,G,A&fts=all	E381K	--	--	1																																		OCRL_uc004eur.2_Missense_Mutation_p.E381K		1		possibly_damaging(0.738)	p.E381K	NM_000276	NP_000267		deleterious(0)		OCRL_HUMAN	OCRL	HGNC	Q01968	OCRL_HUMAN					12	1306	+			UPI0000167B0B	381					SNV	OCRL,missense_variant,p.Glu381Lys,ENST00000371113,NM_000276.3;OCRL,missense_variant,p.Glu381Lys,ENST00000357121,NM_001587.3;OCRL,downstream_gene_variant,,ENST00000486673,;	uc004euq.2	c.1141G>A	1306/5162	2	2			c.1141G>A						23	SNP	c.(1141-1143)GAG>AAG	24	24			lung(2)|ovary(1)|kidney(1)	4	Broad	phosphatidylinositol polyphosphate 5-phosphatase			128696660		0.438	ENSG00000122126	10632	g.chrX:128696660G>A	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding							-7.231267	KEEP	1	2	-1	35	29	1	2	-1	6.496306	35	29	0.047619	1	0	0	0	0	1	0	0	0	--	--		0	A			OCRL_uc004eur.2_Missense_Mutation_p.E381K	274	GBM-76-6191-TP	p.E381K	G	TGCACACGTGGAGGACTTTGA	NM_000276	NP_000267	128696660	Q01968	OCRL_HUMAN	0			12	1306	+	A	A			Missense_Mutation	381						
ODAM	0	broad.mit.edu	GRCh37	4	71062419	71062419	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-28-5219-01	TCGA-28-5219-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396094.2:c.62A>T	p.Gln21Leu	p.Q21L	ENST00000396094	NM_017855.3	21	cAg/cTg	0			1			T	Q/L	uc003hfc.2	protein_coding	YES	CCDS3536.2			62/840									ovary(3)|large_intestine(1)	4	c.(61-63)CAG>CTG			Pfam_domain:PF15424,hmmpanther:PTHR16237,hmmpanther:PTHR16237:SF2	odontogenic ameloblast-associated protein				ENSP00000379401		11-Feb									COSM3409447	11-Feb	.		ENST00000396094	Transcript			biomineral tissue development|odontogenesis of dentine-containing tooth	fibril		ENSG00000109205	g.chr4:71062419A>T	26043			MODERATE		1.795	low	getma.org/?cm=msa&ty=f&p=ODAM_HUMAN&rb=1&re=277&var=Q21L	NA	getma.org/?cm=var&var=hg19,4,71062419,A,T&fts=all	Q21L	--	--	1																																			1	1		benign(0.005)	p.Q21L	NM_017855	NP_060325		deleterious(0)	1	ODAM_HUMAN	ODAM	HGNC	A1E959	ODAM_HUMAN					2	79	+			UPI0000413A02	21					SNV	ODAM,missense_variant,p.Gln21Leu,ENST00000396094,NM_017855.3;ODAM,intron_variant,,ENST00000510709,;ODAM,upstream_gene_variant,,ENST00000514097,;ODAM,upstream_gene_variant,,ENST00000510847,;ODAM,upstream_gene_variant,,ENST00000506248,;	uc003hfc.2	c.62A>T	110/1319	2	2			c.62A>T						4	SNP	c.(61-63)CAG>CTG	28	28			ovary(3)|large_intestine(1)	4	Broad	odontogenic ameloblast-associated protein			71062419		0.333	ENSG00000109205	10633	g.chr4:71062419A>T	biomineral tissue development|odontogenesis of dentine-containing tooth	fibril								76.917122	KEEP	15	18	-1	32	34	15	18	-1	79.917206	32	34	0.302326	1	0	0	0	0	1	0	0	0	--	--		0	T				225	GBM-28-5219-TP	p.Q21L	A	CTTATCCCACAGCGTCTCATG	NM_017855	NP_060325	71062419	A1E959	ODAM_HUMAN	0			2	79	+	T	T			Missense_Mutation	21						
ODF2	0	broad.mit.edu	GRCh37	9	131233667	131233667	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-0619-01	TCGA-12-0619-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000434106.3:c.501C>T	p.His167=	p.H167=	ENST00000434106	NM_153433.1	167	caC/caT	0			1			T	H	uc011mbd.1	protein_coding	YES	CCDS56588.1			501/2490									ovary(1)	1	c.(499-501)CAC>CAT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23162,hmmpanther:PTHR23162:SF8,Low_complexity_(Seg):seg	outer dense fiber of sperm tails 2 isoform 1				ENSP00000403453		21-Jun									COSM3413363,COSM3413362,COSM3413364	21-Jun	.		ENST00000434106	Transcript			cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	ENSG00000136811	g.chr9:131233667C>T	8114			LOW								--	--	1																																		ODF2_uc011maz.1_Silent_p.H167H|ODF2_uc011mba.1_Intron|ODF2_uc010myb.2_Silent_p.H143H|ODF2_uc011mbb.1_Silent_p.H101H|ODF2_uc011mbc.1_Silent_p.H86H|ODF2_uc004bva.2_Silent_p.H120H|ODF2_uc004bvb.2_Silent_p.H143H|ODF2_uc011mbe.1_Silent_p.H162H|ODF2_uc004bvc.2_Silent_p.H143H|ODF2_uc010myc.2_Silent_p.H110H|ODF2_uc011mbf.1_Silent_p.H148H|ODF2_uc004bvd.3_Silent_p.H167H|ODF2_uc004bve.2_Silent_p.H148H	1,1,1	1			p.H167H	NM_002540	NP_002531			1,1,1	ODFP2_HUMAN	ODF2	HGNC	Q5BJF6	ODFP2_HUMAN			S4R462_HUMAN,Q9UNM2_HUMAN,Q6PJQ8_HUMAN,Q5T4C7_HUMAN		6	812	+			UPI0000211922	167			Potential.		SNV	ODF2,synonymous_variant,p.=,ENST00000434106,NM_153433.1;ODF2,synonymous_variant,p.=,ENST00000393527,NM_002540.4;ODF2,synonymous_variant,p.=,ENST00000351030,NM_153435.1,NM_001242352.1;ODF2,synonymous_variant,p.=,ENST00000604420,NM_001242353.1;ODF2,synonymous_variant,p.=,ENST00000372807,;ODF2,synonymous_variant,p.=,ENST00000444119,;ODF2,synonymous_variant,p.=,ENST00000372791,NM_153437.2;ODF2,synonymous_variant,p.=,ENST00000372814,NM_153439.1,NM_153432.1;ODF2,synonymous_variant,p.=,ENST00000546203,NM_153440.1;ODF2,synonymous_variant,p.=,ENST00000393533,NM_153436.1;ODF2,synonymous_variant,p.=,ENST00000448249,NM_001242354.1;ODF2,synonymous_variant,p.=,ENST00000421776,;ODF2,synonymous_variant,p.=,ENST00000432065,;ODF2,synonymous_variant,p.=,ENST00000446274,;ODF2,intron_variant,,ENST00000535026,;ODF2,downstream_gene_variant,,ENST00000470061,;ODF2,downstream_gene_variant,,ENST00000497812,;ODF2-AS1,intron_variant,,ENST00000420801,;ODF2,downstream_gene_variant,,ENST00000469582,;	uc011mbd.1	c.501C>T	864/3890	2	2			c.501C>T						9	SNP	c.(499-501)CAC>CAT	37	37			ovary(1)	1	Broad	outer dense fiber of sperm tails 2 isoform 1			131233667		0.577	ENSG00000136811	10636	g.chr9:131233667C>T	cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity							21.398263	KEEP	12	12	-1	99	117	12	12	-1	53.010963	99	117	0.106796	1	0	0	0	0	0	0	1	0	--	--		0	T			ODF2_uc011maz.1_Silent_p.H167H|ODF2_uc011mba.1_Intron|ODF2_uc010myb.2_Silent_p.H143H|ODF2_uc011mbb.1_Silent_p.H101H|ODF2_uc011mbc.1_Silent_p.H86H|ODF2_uc004bva.2_Silent_p.H120H|ODF2_uc004bvb.2_Silent_p.H143H|ODF2_uc011mbe.1_Silent_p.H162H|ODF2_uc004bvc.2_Silent_p.H143H|ODF2_uc010myc.2_Silent_p.H110H|ODF2_uc011mbf.1_Silent_p.H148H|ODF2_uc004bvd.3_Silent_p.H167H|ODF2_uc004bve.2_Silent_p.H148H	120	GBM-12-0619-TP	p.H167H	C	AGGTGGCCCACGAACTGGCTG	NM_002540	NP_002531	131233667	Q5BJF6	ODFP2_HUMAN	0			6	812	+	T	T			Silent	167			Potential.			
ODF2L	0	broad.mit.edu	GRCh37	1	86851250	86851250	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-87-5896-01	TCGA-87-5896-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317336.7:c.137A>T	p.Glu46Val	p.E46V	ENST00000317336	NM_001184765.1	46	gAa/gTa	0			1			A	E/V	uc001dll.1	protein_coding					137/2022									ovary(1)	1	c.(136-138)GAA>GTA			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23162:SF7,hmmpanther:PTHR23162	outer dense fiber of sperm tails 2-like isoform				ENSP00000320165		18-Mar									COSM3401062	18-Mar	.		ENST00000317336	Transcript				centrosome		ENSG00000122417	g.chr1:86851250T>A	29225			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=ODF2L_HUMAN&rb=1&re=277&var=E46V	NA	getma.org/?cm=var&var=hg19,1,86851250,T,A&fts=all	E46V	--	--	1																																		ODF2L_uc001dlm.1_Missense_Mutation_p.E46V|ODF2L_uc001dln.2_Missense_Mutation_p.E46V|ODF2L_uc001dlo.2_Intron|ODF2L_uc001dlp.2_Missense_Mutation_p.E46V|ODF2L_uc010osg.1_Missense_Mutation_p.E46V|ODF2L_uc001dlq.1_Intron|ODF2L_uc009wcr.1_Intron	1			possibly_damaging(0.559)	p.E46V	NM_020729	NP_065780		deleterious(0)	1		ODF2L	HGNC	Q9ULJ1	ODF2L_HUMAN		all cancers(265;0.0313)|Epithelial(280;0.0611)	G5E956_HUMAN,B5ME44_HUMAN		3	477	-			UPI0000D61F52	46			Potential.		SNV	ODF2L,missense_variant,p.Glu46Val,ENST00000359242,NM_001007022.2;ODF2L,missense_variant,p.Glu46Val,ENST00000294678,NM_020729.2;ODF2L,missense_variant,p.Glu46Val,ENST00000317336,NM_001184765.1;ODF2L,missense_variant,p.Glu46Val,ENST00000370567,;ODF2L,missense_variant,p.Glu46Val,ENST00000370566,NM_001184766.1;ODF2L,5_prime_UTR_variant,,ENST00000394733,;ODF2L,intron_variant,,ENST00000394731,;ODF2L,intron_variant,,ENST00000479890,;ODF2L,downstream_gene_variant,,ENST00000478286,;ODF2L,upstream_gene_variant,,ENST00000460698,;ODF2L,downstream_gene_variant,,ENST00000486215,;ODF2L,intron_variant,,ENST00000488879,;ODF2L,upstream_gene_variant,,ENST00000496592,;ODF2L,upstream_gene_variant,,ENST00000480440,;ODF2L,upstream_gene_variant,,ENST00000472368,;	uc001dll.1	c.137A>T	484/2381	1	1			c.137A>T						1	SNP	c.(136-138)GAA>GTA	64	64			ovary(1)	1	Broad	outer dense fiber of sperm tails 2-like isoform			86851250		0.343	ENSG00000122417	10637	g.chr1:86851250T>A		centrosome								47.963122	KEEP	11	8	-1	19	15	11	8	-1	48.650831	19	15	0.369565	1	0	0	0	0	1	0	0	0	--	--		0	A			ODF2L_uc001dlm.1_Missense_Mutation_p.E46V|ODF2L_uc001dln.2_Missense_Mutation_p.E46V|ODF2L_uc001dlo.2_Intron|ODF2L_uc001dlp.2_Missense_Mutation_p.E46V|ODF2L_uc010osg.1_Missense_Mutation_p.E46V|ODF2L_uc001dlq.1_Intron|ODF2L_uc009wcr.1_Intron	291	GBM-87-5896-TP	p.E46V	T	TTCAGTCTTTTCATTTAGAAT	NM_020729	NP_065780	86851250	Q9ULJ1	ODF2L_HUMAN	0		all cancers(265;0.0313)|Epithelial(280;0.0611)	3	477	-	A	A			Missense_Mutation	46			Potential.			
ODF3L2	284451	broad.mit.edu	GRCh37	19	463966	463966	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01	TCGA-06-0158-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315489.4:c.748G>A	p.Val250Met	p.V250M	ENST00000315489	NM_182577.2	250	Gtg/Atg	0			1			T	V/M	uc002lor.2	protein_coding	YES	CCDS12027.1			748/870										0	c.(748-750)GTG>ATG			Pfam_domain:PF07004,hmmpanther:PTHR21580,hmmpanther:PTHR21580:SF2	outer dense fiber of sperm tails 3-like 2				ENSP00000318029		4-Apr	4.16E-05	0.000111	9.06E-05			1.61E-05		0.000127	rs753944829,COSM2150146	4-Apr	.		ENST00000315489	Transcript						ENSG00000181781	g.chr19:463966C>T	26841			MODERATE		0.5	neutral	getma.org/?cm=msa&ty=f&p=OD3L2_HUMAN&rb=237&re=267&var=V250M	NA	getma.org/?cm=var&var=hg19,19,463966,C,T&fts=all	V250M	--	--	1																																		SHC2_uc002loq.3_5'Flank|ODF3L2_uc010drp.2_Missense_Mutation_p.V214M	0,1	1		possibly_damaging(0.473)	p.V250M	NM_182577	NP_872383		tolerated(0.1)	0,1	OD3L2_HUMAN	ODF3L2	HGNC	Q3SX64	OD3L2_HUMAN					4	984	-			UPI0000072898	250			DUF1309 3.		SNV	ODF3L2,missense_variant,p.Val250Met,ENST00000315489,NM_182577.2;ODF3L2,missense_variant,p.Val214Met,ENST00000382696,;SHC2,upstream_gene_variant,,ENST00000264554,NM_012435.2;SHC2,upstream_gene_variant,,ENST00000590222,;ODF3L2,downstream_gene_variant,,ENST00000591681,;	uc002lor.2	c.748G>A	984/1604	2	2			c.748G>A						19	SNP	c.(748-750)GTG>ATG	43	43				0	Broad	outer dense fiber of sperm tails 3-like 2			463966		0.627	ENSG00000181781	10641	g.chr19:463966C>T										46.522895	KEEP	8	10	-1	20	32	8	10	-1	49.923736	20	32	0.264706	1	0	0	0	0	1	0	0	0	--	--		0	T			SHC2_uc002loq.3_5'Flank|ODF3L2_uc010drp.2_Missense_Mutation_p.V214M	29	GBM-06-0158-TP	p.V250M	C	GCTTTGTTCACGGTGACCTGC	NM_182577	NP_872383	463966	Q3SX64	OD3L2_HUMAN	0			4	984	-	T	T			Missense_Mutation	250			DUF1309 3.			
ODF4	146852	broad.mit.edu	GRCh37	17	8243550	8243550	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs147153349		TCGA-06-0645-01	TCGA-06-0645-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328248.2:c.181C>T	p.Arg61Cys	p.R61C	ENST00000328248	NM_153007.4	61	Cgc/Tgc	0	T:0.0002		1			T	R/C	uc002gle.1	protein_coding	YES	CCDS11140.1			181/774									ovary(1)	1	c.(181-183)CGC>TGC				outer dense fiber of sperm tails 4			T:0	ENSP00000331086		3-Jan	3.29E-05	0.00029		0.000116					rs147153349,COSM2151278	3-Jan	.		ENST00000328248	Transcript			cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		ENSG00000184650	g.chr17:8243550C>T	19056			MODERATE		1.525	low	getma.org/?cm=msa&ty=f&p=ODFP4_HUMAN&rb=1&re=159&var=R61C	NA	getma.org/?cm=var&var=hg19,17,8243550,C,T&fts=all	R61C	--	--	1																																			0,1	1		probably_damaging(0.995)	p.R61C	NM_153007	NP_694552		deleterious(0)	0,1	ODFP4_HUMAN	ODF4	HGNC	Q2M2E3	ODFP4_HUMAN					1	363	+			UPI000013F20D	61					SNV	ODF4,missense_variant,p.Arg61Cys,ENST00000328248,NM_153007.4;ODF4,intron_variant,,ENST00000584943,;RP11-849F2.4,downstream_gene_variant,,ENST00000585275,;	uc002gle.1	c.181C>T	369/1156	2	2			c.181C>T						17	SNP	c.(181-183)CGC>TGC	18	18			ovary(1)	1	Broad	outer dense fiber of sperm tails 4			8243550		0.592	ENSG00000184650	10642	g.chr17:8243550C>T	cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane								69.451393	KEEP	17	11	-1	11	11	17	11	-1	69.472094	11	11	0.52381	1	0	0	0	0	1	0	0	0	--	--		0	T				59	GBM-06-0645-TP	p.R61C	C	CTTGGGCCAGCGCCAGAACTC	NM_153007	NP_694552	8243550	Q2M2E3	ODFP4_HUMAN	0			1	363	+	T	T			Missense_Mutation	61						
ODF4	146852	broad.mit.edu	GRCh37	17	8243550	8243550	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs147153349		TCGA-06-2559-01	TCGA-06-2559-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328248.2:c.181C>T	p.Arg61Cys	p.R61C	ENST00000328248	NM_153007.4	61	Cgc/Tgc	0	T:0.0002		1			T	R/C	uc002gle.1	protein_coding	YES	CCDS11140.1			181/774									ovary(1)	1	c.(181-183)CGC>TGC				outer dense fiber of sperm tails 4			T:0	ENSP00000331086		3-Jan	3.29E-05	0.00029		0.000116					rs147153349,COSM2151278	3-Jan	.		ENST00000328248	Transcript			cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		ENSG00000184650	g.chr17:8243550C>T	19056			MODERATE		1.525	low	getma.org/?cm=msa&ty=f&p=ODFP4_HUMAN&rb=1&re=159&var=R61C	NA	getma.org/?cm=var&var=hg19,17,8243550,C,T&fts=all	R61C	--	--	1																																			0,1	1		probably_damaging(0.995)	p.R61C	NM_153007	NP_694552		deleterious(0)	0,1	ODFP4_HUMAN	ODF4	HGNC	Q2M2E3	ODFP4_HUMAN					1	363	+			UPI000013F20D	61					SNV	ODF4,missense_variant,p.Arg61Cys,ENST00000328248,NM_153007.4;ODF4,intron_variant,,ENST00000584943,;RP11-849F2.4,downstream_gene_variant,,ENST00000585275,;	uc002gle.1	c.181C>T	369/1156	2	2			c.181C>T						17	SNP	c.(181-183)CGC>TGC	18	18			ovary(1)	1	Broad	outer dense fiber of sperm tails 4			8243550		0.592	ENSG00000184650	10642	g.chr17:8243550C>T	cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane								66.076795	KEEP	13	11	-1	11	15	13	11	-1	66.096184	11	15	0.477273	1	0	0	0	0	1	0	0	0	--	--		0	T				83	GBM-06-2559-TP	p.R61C	C	CTTGGGCCAGCGCCAGAACTC	NM_153007	NP_694552	8243550	Q2M2E3	ODFP4_HUMAN	0			1	363	+	T	T			Missense_Mutation	61						
ODF4	0	broad.mit.edu	GRCh37	17	8243551	8243551	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01	TCGA-19-5952-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328248.2:c.182G>A	p.Arg61His	p.R61H	ENST00000328248	NM_153007.4	61	cGc/cAc	0			1			A	R/H	uc002gle.1	protein_coding	YES	CCDS11140.1			182/774									ovary(1)	1	c.(181-183)CGC>CAC				outer dense fiber of sperm tails 4				ENSP00000331086		3-Jan	1.65E-05		8.70E-05					6.13E-05	rs758633879,COSM2156695	3-Jan	.		ENST00000328248	Transcript			cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		ENSG00000184650	g.chr17:8243551G>A	19056			MODERATE		1.175	low	getma.org/?cm=msa&ty=f&p=ODFP4_HUMAN&rb=1&re=159&var=R61H	NA	getma.org/?cm=var&var=hg19,17,8243551,G,A&fts=all	R61H	--	--	1																																			0,1	1		possibly_damaging(0.495)	p.R61H	NM_153007	NP_694552		tolerated(0.34)	0,1	ODFP4_HUMAN	ODF4	HGNC	Q2M2E3	ODFP4_HUMAN					1	364	+			UPI000013F20D	61					SNV	ODF4,missense_variant,p.Arg61His,ENST00000328248,NM_153007.4;ODF4,intron_variant,,ENST00000584943,;RP11-849F2.4,downstream_gene_variant,,ENST00000585275,;	uc002gle.1	c.182G>A	370/1156	2	2			c.182G>A						17	SNP	c.(181-183)CGC>CAC	21	21			ovary(1)	1	Broad	outer dense fiber of sperm tails 4			8243551		0.587	ENSG00000184650	10642	g.chr17:8243551G>A	cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane								61.925593	KEEP	15	9	-1	15	22	15	9	-1	62.491725	15	22	0.392857	1	0	0	0	0	1	0	0	0	--	--		0	A				172	GBM-19-5952-TP	p.R61H	G	TTGGGCCAGCGCCAGAACTCT	NM_153007	NP_694552	8243551	Q2M2E3	ODFP4_HUMAN	0			1	364	+	A	A			Missense_Mutation	61						
OFD1	0	broad.mit.edu	GRCh37	X	13786260	13786260	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-16-1045-01	TCGA-16-1045-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340096.6:c.2845G>C	p.Asp949His	p.D949H	ENST00000340096	NM_003611.2	949	Gac/Cac	0			1			C	D/H	uc004cvp.3	protein_coding	YES	CCDS14157.1			2845/3039										0	c.(2845-2847)GAC>CAC				oral-facial-digital syndrome 1				ENSP00000344314		21/23									COSM3406004	21/23	.		ENST00000340096	Transcript	1		cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	ENSG00000046651	g.chrX:13786260G>C	2567			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=OFD1_HUMAN&rb=1&re=1010&var=D949H	NA	getma.org/?cm=var&var=hg19,X,13786260,G,C&fts=all	D949H	--	--	1																																		OFD1_uc004cvr.3_Missense_Mutation_p.D479H|OFD1_uc011mil.1_Missense_Mutation_p.D516H|OFD1_uc004cvq.3_Missense_Mutation_p.D772H|OFD1_uc010nen.2_Missense_Mutation_p.D947H|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Missense_Mutation_p.D908H|OFD1_uc004cvv.3_Missense_Mutation_p.D907H	1	1		probably_damaging(0.934)	p.D949H	NM_003611	NP_003602		deleterious(0)	1	OFD1_HUMAN	OFD1	HGNC	O75665	OFD1_HUMAN			E9KL37_HUMAN,A8K2T9_HUMAN,A6NF31_HUMAN		21	3204	+			UPI0000130C40	949			Mediates the interaction with SDCCAG8.|Potential.		SNV	OFD1,missense_variant,p.Asp809His,ENST00000380567,;OFD1,missense_variant,p.Asp949His,ENST00000340096,NM_003611.2;OFD1,missense_variant,p.Asp909His,ENST00000380550,;GPM6B,downstream_gene_variant,,ENST00000454189,NM_001001994.1;GPM6B,downstream_gene_variant,,ENST00000316715,NM_001001995.1;GPM6B,downstream_gene_variant,,ENST00000493677,;GPM6B,downstream_gene_variant,,ENST00000472735,;OFD1,non_coding_transcript_exon_variant,,ENST00000490265,;OFD1,non_coding_transcript_exon_variant,,ENST00000464463,;OFD1,non_coding_transcript_exon_variant,,ENST00000474705,;	uc004cvp.3	c.2845G>C	3172/3611	3	3			c.2845G>C						23	SNP	c.(2845-2847)GAC>CAC	56	56				0	Broad	oral-facial-digital syndrome 1			13786260		0.358	ENSG00000046651	10647	g.chrX:13786260G>C	cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding							-36.0314	KEEP	0	4	-1	87	75	0	4	-1	6.539087	87	75	0.018405	1	0	0	0	0	1	0	0	0	--	--		0	C			OFD1_uc004cvr.3_Missense_Mutation_p.D479H|OFD1_uc011mil.1_Missense_Mutation_p.D516H|OFD1_uc004cvq.3_Missense_Mutation_p.D772H|OFD1_uc010nen.2_Missense_Mutation_p.D947H|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Missense_Mutation_p.D908H|OFD1_uc004cvv.3_Missense_Mutation_p.D907H	157	GBM-16-1045-TP	p.D949H	G	AGAAATAAAAGACAAATCTGC	NM_003611	NP_003602	13786260	O75665	OFD1_HUMAN	0			21	3204	+	C	C			Missense_Mutation	949			Mediates the interaction with SDCCAG8.|Potential.			
OGDH	4967	broad.mit.edu	GRCh37	7	44736643	44736643	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222673.5:c.2031C>T	p.Asp677=	p.D677=	ENST00000222673	NM_002541.3	677	gaC/gaT	0			1			T	D	uc003tln.2	protein_coding	YES	CCDS34627.1			2031/3072									upper_aerodigestive_tract(1)|ovary(1)	2	c.(2029-2031)GAC>GAT			Superfamily_domains:SSF52518,SMART_domains:SM00861,PIRSF_domain:PIRSF000157,TIGRFAM_domain:TIGR00239,Pfam_domain:PF02779,hmmpanther:PTHR23152:SF7,hmmpanther:PTHR23152	oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)			ENSP00000222673		15/23	1.65E-05					3.00E-05			rs781776901,COSM2149574,COSM2149575	15/23	.		ENST00000222673	Transcript			glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	ENSG00000105953	g.chr7:44736643C>T	8124			LOW								--	--	1																																		OGDH_uc011kbx.1_Silent_p.D673D|OGDH_uc011kby.1_Silent_p.D527D|OGDH_uc003tlp.2_Silent_p.D688D|OGDH_uc011kbz.1_Silent_p.D472D|OGDH_uc003tlo.1_Silent_p.D510D	0,1,1	1			p.D677D	NM_002541	NP_002532			0,1,1	ODO1_HUMAN	OGDH	HGNC	Q02218	ODO1_HUMAN			C9J4G7_HUMAN		15	2140	+			UPI000006D5FE	677					SNV	OGDH,synonymous_variant,p.=,ENST00000222673,NM_002541.3;OGDH,synonymous_variant,p.=,ENST00000449767,NM_001165036.1;OGDH,synonymous_variant,p.=,ENST00000447398,;OGDH,synonymous_variant,p.=,ENST00000444676,;OGDH,synonymous_variant,p.=,ENST00000543843,;OGDH,synonymous_variant,p.=,ENST00000439616,;	uc003tln.2	c.2031C>T	2073/4181	2	2			c.2031C>T						7	SNP	c.(2029-2031)GAC>GAT	44	44			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	oxoglutarate dehydrogenase isoform 1 precursor		NADH(DB00157)	44736643		0.552	ENSG00000105953	10648	g.chr7:44736643C>T	glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding							96.246751	KEEP	22	15	-1	32	21	22	15	-1	96.716393	32	21	0.417722	1	0	0	0	0	0	0	1	0	--	--		0	T			OGDH_uc011kbx.1_Silent_p.D673D|OGDH_uc011kby.1_Silent_p.D527D|OGDH_uc003tlp.2_Silent_p.D688D|OGDH_uc011kbz.1_Silent_p.D472D|OGDH_uc003tlo.1_Silent_p.D510D	18	GBM-06-0137-TP	p.D677D	C	GCGGCCAGGACGTGGAGCGGG	NM_002541	NP_002532	44736643	Q02218	ODO1_HUMAN	0			15	2140	+	T	T			Silent	677						
OGDH	4967	broad.mit.edu	GRCh37	7	44684936	44684936	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0141-01	TCGA-06-0141-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222673.5:c.240del	p.Arg81AlafsTer19	p.R81Afs*19	ENST00000222673	NM_002541.3	78	aTt/at	0			1			-	I/X	uc003tln.2	protein_coding	YES	CCDS34627.1			233/3072									upper_aerodigestive_tract(1)|ovary(1)	2	c.(232-234)ATTfs			PIRSF_domain:PIRSF000157,TIGRFAM_domain:TIGR00239,hmmpanther:PTHR23152:SF7,hmmpanther:PTHR23152	oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)			ENSP00000222673		23-Mar	0.000132	9.67E-05	8.64E-05			0.000136		0.000126	rs777887578,COSM214500,COSM1259889	23-Mar	.		ENST00000222673	Transcript			glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	ENSG00000105953	g.chr7:44684936delT	8124	7		HIGH								--	--	1																																		OGDH_uc003tlm.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kbx.1_Frame_Shift_Del_p.I78fs|OGDH_uc011kby.1_Intron|OGDH_uc003tlp.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kbz.1_5'UTR|OGDH_uc003tlo.1_5'UTR	0,1,1	1			p.I78fs	NM_002541	NP_002532			0,1,1	ODO1_HUMAN	OGDH	HGNC	Q02218	ODO1_HUMAN			C9J4G7_HUMAN		3	342	+			UPI000006D5FE	78					deletion	OGDH,frameshift_variant,p.Arg81AlafsTer19,ENST00000222673,NM_002541.3;OGDH,frameshift_variant,p.Arg81AlafsTer19,ENST00000449767,NM_001165036.1;OGDH,frameshift_variant,p.Arg81AlafsTer19,ENST00000447398,;OGDH,frameshift_variant,p.Arg81AlafsTer19,ENST00000444676,;OGDH,frameshift_variant,p.Arg21AlafsTer19,ENST00000543843,;OGDH,frameshift_variant,p.Arg81AlafsTer19,ENST00000443864,NM_001003941.2;OGDH,frameshift_variant,p.Arg81AlafsTer19,ENST00000419661,;OGDH,intron_variant,,ENST00000439616,;	uc003tln.2	c.233delT	275/4181	5	5			c.233delT						7	DEL	c.(232-234)ATTfs	2	2			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	oxoglutarate dehydrogenase isoform 1 precursor		NADH(DB00157)	44684936		0.577	ENSG00000105953	10648	g.chr7:44684936delT	glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding																				0.02	1	1	0	1	0	0	0	0	0	--	--		0	-			OGDH_uc003tlm.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kbx.1_Frame_Shift_Del_p.I78fs|OGDH_uc011kby.1_Intron|OGDH_uc003tlp.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kbz.1_5'UTR|OGDH_uc003tlo.1_5'UTR	21	GBM-06-0141-TP	p.I78fs	T	TCATGGGACATTTTTTTTCGC	NM_002541	NP_002532	44684936	Q02218	ODO1_HUMAN	0			3	342	+	-	-			Frame_Shift_Del	78						
OGDH	4967	broad.mit.edu	GRCh37	7	44684936	44684936	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-06-5418-01	TCGA-06-5418-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222673.5:c.240del	p.Arg81AlafsTer19	p.R81Afs*19	ENST00000222673	NM_002541.3	78	aTt/at	0			1			-	I/X	uc003tln.2	protein_coding	YES	CCDS34627.1			233/3072									upper_aerodigestive_tract(1)|ovary(1)	2	c.(232-234)ATTfs			PIRSF_domain:PIRSF000157,TIGRFAM_domain:TIGR00239,hmmpanther:PTHR23152:SF7,hmmpanther:PTHR23152	oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)			ENSP00000222673		23-Mar	0.000132	9.67E-05	8.64E-05			0.000136		0.000126	rs777887578,COSM214500,COSM1259889	23-Mar	.		ENST00000222673	Transcript			glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	ENSG00000105953	g.chr7:44684936delT	8124	7		HIGH								--	--	1																																		OGDH_uc003tlm.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kbx.1_Frame_Shift_Del_p.I78fs|OGDH_uc011kby.1_Intron|OGDH_uc003tlp.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kbz.1_5'UTR|OGDH_uc003tlo.1_5'UTR	0,1,1	1			p.I78fs	NM_002541	NP_002532			0,1,1	ODO1_HUMAN	OGDH	HGNC	Q02218	ODO1_HUMAN			C9J4G7_HUMAN		3	342	+			UPI000006D5FE	78					deletion	OGDH,frameshift_variant,p.Arg81AlafsTer19,ENST00000222673,NM_002541.3;OGDH,frameshift_variant,p.Arg81AlafsTer19,ENST00000449767,NM_001165036.1;OGDH,frameshift_variant,p.Arg81AlafsTer19,ENST00000447398,;OGDH,frameshift_variant,p.Arg81AlafsTer19,ENST00000444676,;OGDH,frameshift_variant,p.Arg21AlafsTer19,ENST00000543843,;OGDH,frameshift_variant,p.Arg81AlafsTer19,ENST00000443864,NM_001003941.2;OGDH,frameshift_variant,p.Arg81AlafsTer19,ENST00000419661,;OGDH,intron_variant,,ENST00000439616,;	uc003tln.2	c.233delT	275/4181	5	5			c.233delT						7	DEL	c.(232-234)ATTfs	2	2			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	oxoglutarate dehydrogenase isoform 1 precursor		NADH(DB00157)	44684936		0.577	ENSG00000105953	10648	g.chr7:44684936delT	glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding																				0.01	1	1	0	1	0	0	0	0	0	--	--		0	-			OGDH_uc003tlm.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kbx.1_Frame_Shift_Del_p.I78fs|OGDH_uc011kby.1_Intron|OGDH_uc003tlp.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kbz.1_5'UTR|OGDH_uc003tlo.1_5'UTR	100	GBM-06-5418-TP	p.I78fs	T	TCATGGGACATTTTTTTTCGC	NM_002541	NP_002532	44684936	Q02218	ODO1_HUMAN	0			3	342	+	-	-			Frame_Shift_Del	78						
OGDH	4967	broad.mit.edu	GRCh37	7	44684936	44684936	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-06-5859-01	TCGA-06-5859-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222673.5:c.240del	p.Arg81AlafsTer19	p.R81Afs*19	ENST00000222673	NM_002541.3	78	aTt/at	0			1			-	I/X	uc003tln.2	protein_coding	YES	CCDS34627.1			233/3072									upper_aerodigestive_tract(1)|ovary(1)	2	c.(232-234)ATTfs			PIRSF_domain:PIRSF000157,TIGRFAM_domain:TIGR00239,hmmpanther:PTHR23152:SF7,hmmpanther:PTHR23152	oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)			ENSP00000222673		23-Mar	0.000132	9.67E-05	8.64E-05			0.000136		0.000126	rs777887578,COSM214500,COSM1259889	23-Mar	.		ENST00000222673	Transcript			glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	ENSG00000105953	g.chr7:44684936delT	8124	7		HIGH								--	--	1																																		OGDH_uc003tlm.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kbx.1_Frame_Shift_Del_p.I78fs|OGDH_uc011kby.1_Intron|OGDH_uc003tlp.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kbz.1_5'UTR|OGDH_uc003tlo.1_5'UTR	0,1,1	1			p.I78fs	NM_002541	NP_002532			0,1,1	ODO1_HUMAN	OGDH	HGNC	Q02218	ODO1_HUMAN			C9J4G7_HUMAN		3	342	+			UPI000006D5FE	78					deletion	OGDH,frameshift_variant,p.Arg81AlafsTer19,ENST00000222673,NM_002541.3;OGDH,frameshift_variant,p.Arg81AlafsTer19,ENST00000449767,NM_001165036.1;OGDH,frameshift_variant,p.Arg81AlafsTer19,ENST00000447398,;OGDH,frameshift_variant,p.Arg81AlafsTer19,ENST00000444676,;OGDH,frameshift_variant,p.Arg21AlafsTer19,ENST00000543843,;OGDH,frameshift_variant,p.Arg81AlafsTer19,ENST00000443864,NM_001003941.2;OGDH,frameshift_variant,p.Arg81AlafsTer19,ENST00000419661,;OGDH,intron_variant,,ENST00000439616,;	uc003tln.2	c.233delT	275/4181	5	5			c.233delT						7	DEL	c.(232-234)ATTfs	2	2			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	oxoglutarate dehydrogenase isoform 1 precursor		NADH(DB00157)	44684936		0.577	ENSG00000105953	10648	g.chr7:44684936delT	glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding																				0.02	1	1	0	1	0	0	0	0	0	--	--		0	-			OGDH_uc003tlm.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kbx.1_Frame_Shift_Del_p.I78fs|OGDH_uc011kby.1_Intron|OGDH_uc003tlp.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kbz.1_5'UTR|OGDH_uc003tlo.1_5'UTR	103	GBM-06-5859-TP	p.I78fs	T	TCATGGGACATTTTTTTTCGC	NM_002541	NP_002532	44684936	Q02218	ODO1_HUMAN	0			3	342	+	-	-			Frame_Shift_Del	78						
OGDH	0	broad.mit.edu	GRCh37	7	44714133	44714133	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222673.5:c.912C>T	p.Tyr304=	p.Y304=	ENST00000222673	NM_002541.3	304	taC/taT	0			1			T	Y	uc003tln.2	protein_coding	YES	CCDS34627.1			912/3072									upper_aerodigestive_tract(1)|ovary(1)	2	c.(910-912)TAC>TAT			Superfamily_domains:SSF52518,PIRSF_domain:PIRSF000157,TIGRFAM_domain:TIGR00239,Pfam_domain:PF00676,Gene3D:3.40.50.970,hmmpanther:PTHR23152:SF7,hmmpanther:PTHR23152	oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)			ENSP00000222673		23-Jul									COSM3412088,COSM3412089,COSM3412090	23-Jul	.		ENST00000222673	Transcript			glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	ENSG00000105953	g.chr7:44714133C>T	8124			LOW								--	--	1																																		OGDH_uc003tlm.2_Silent_p.Y304Y|OGDH_uc011kbx.1_Silent_p.Y300Y|OGDH_uc011kby.1_Silent_p.Y154Y|OGDH_uc003tlp.2_Silent_p.Y315Y|OGDH_uc011kbz.1_Silent_p.Y99Y|OGDH_uc003tlo.1_Silent_p.Y137Y	1,1,1	1			p.Y304Y	NM_002541	NP_002532			1,1,1	ODO1_HUMAN	OGDH	HGNC	Q02218	ODO1_HUMAN			C9J4G7_HUMAN		7	1021	+			UPI000006D5FE	304					SNV	OGDH,synonymous_variant,p.=,ENST00000222673,NM_002541.3;OGDH,synonymous_variant,p.=,ENST00000449767,NM_001165036.1;OGDH,synonymous_variant,p.=,ENST00000447398,;OGDH,synonymous_variant,p.=,ENST00000444676,;OGDH,synonymous_variant,p.=,ENST00000543843,;OGDH,synonymous_variant,p.=,ENST00000439616,;OGDH,synonymous_variant,p.=,ENST00000443864,NM_001003941.2;OGDH,non_coding_transcript_exon_variant,,ENST00000459672,;OGDH,non_coding_transcript_exon_variant,,ENST00000497326,;	uc003tln.2	c.912C>T	954/4181	1	1			c.912C>T						7	SNP	c.(910-912)TAC>TAT	15	15			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	oxoglutarate dehydrogenase isoform 1 precursor		NADH(DB00157)	44714133		0.562	ENSG00000105953	10648	g.chr7:44714133C>T	glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding							-38.389406	KEEP	0	5	-1	108	98	0	5	-1	8.187143	108	98	0.026596	1	0	0	0	0	0	0	1	0	--	--		0	T			OGDH_uc003tlm.2_Silent_p.Y304Y|OGDH_uc011kbx.1_Silent_p.Y300Y|OGDH_uc011kby.1_Silent_p.Y154Y|OGDH_uc003tlp.2_Silent_p.Y315Y|OGDH_uc011kbz.1_Silent_p.Y99Y|OGDH_uc003tlo.1_Silent_p.Y137Y	138	GBM-14-0813-TP	p.Y304Y	C	GCGTGGACTACGTGATCATGG	NM_002541	NP_002532	44714133	Q02218	ODO1_HUMAN	0			7	1021	+	T	T			Silent	304						
OGDH	0	broad.mit.edu	GRCh37	7	44747273	44747273	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-26-1442-01	TCGA-26-1442-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222673.5:c.2889A>G	p.Gln963=	p.Q963=	ENST00000222673	NM_002541.3	963	caA/caG	0			1			G	Q	uc003tln.2	protein_coding	YES	CCDS34627.1			2889/3072									upper_aerodigestive_tract(1)|ovary(1)	2	c.(2887-2889)CAA>CAG			PIRSF_domain:PIRSF000157,TIGRFAM_domain:TIGR00239,hmmpanther:PTHR23152:SF7,hmmpanther:PTHR23152	oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)			ENSP00000222673		22/23									COSM3412091,COSM3412092	22/23	.		ENST00000222673	Transcript			glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	ENSG00000105953	g.chr7:44747273A>G	8124			LOW								--	--	1																																		OGDH_uc011kbx.1_Silent_p.Q959Q|OGDH_uc011kby.1_Silent_p.Q813Q|OGDH_uc003tlp.2_Silent_p.Q974Q|OGDH_uc011kbz.1_Silent_p.Q758Q	1,1	1			p.Q963Q	NM_002541	NP_002532			1,1	ODO1_HUMAN	OGDH	HGNC	Q02218	ODO1_HUMAN			C9J4G7_HUMAN		22	2998	+			UPI000006D5FE	963					SNV	OGDH,synonymous_variant,p.=,ENST00000222673,NM_002541.3;OGDH,synonymous_variant,p.=,ENST00000449767,NM_001165036.1;OGDH,synonymous_variant,p.=,ENST00000447398,;OGDH,synonymous_variant,p.=,ENST00000444676,;OGDH,synonymous_variant,p.=,ENST00000543843,;OGDH,synonymous_variant,p.=,ENST00000439616,;	uc003tln.2	c.2889A>G	2931/4181	3	3			c.2889A>G						7	SNP	c.(2887-2889)CAA>CAG	57	57			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	oxoglutarate dehydrogenase isoform 1 precursor		NADH(DB00157)	44747273		0.592	ENSG00000105953	10648	g.chr7:44747273A>G	glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding							-5.34291	KEEP	6	2	-1	64	54	6	2	-1	18.062979	64	54	0.060345	1	0	0	0	0	0	0	1	0	--	--		0	G			OGDH_uc011kbx.1_Silent_p.Q959Q|OGDH_uc011kby.1_Silent_p.Q813Q|OGDH_uc003tlp.2_Silent_p.Q974Q|OGDH_uc011kbz.1_Silent_p.Q758Q	180	GBM-26-1442-TP	p.Q963Q	A	ACAAGAACCAAGGCTACTATG	NM_002541	NP_002532	44747273	Q02218	ODO1_HUMAN	0			22	2998	+	G	G			Silent	963						
OGFOD1	55239	broad.mit.edu	GRCh37	16	56510097	56510097	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0209-01	TCGA-06-0209-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000566157.1:c.1609T>C	p.Ser537Pro	p.S537P	ENST00000566157	NM_018233.3	537	Tca/Cca	0			1			C	S/P	uc002ejb.2	protein_coding	YES	CCDS10761.2			1609/1629									skin(1)	1	c.(1609-1611)TCA>CCA			hmmpanther:PTHR12117	2-oxoglutarate and iron-dependent oxygenase	Vitamin C(DB00126)			ENSP00000457258		13/13									COSM3402373	13/13	.		ENST00000566157	Transcript					iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	ENSG00000087263	g.chr16:56510097T>C	25585			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=OGFD1_HUMAN&rb=496&re=542&var=S537P	NA	getma.org/?cm=var&var=hg19,16,56510097,T,C&fts=all	S537P	--	--	1																																		OGFOD1_uc002ejc.2_Missense_Mutation_p.S397P	1	1		possibly_damaging(0.739)	p.S537P	NM_018233	NP_060703		deleterious(0.01)	1	OGFD1_HUMAN	OGFOD1	HGNC	Q8N543	OGFD1_HUMAN			H3BUA6_HUMAN,H3BP48_HUMAN		13	1710	+			UPI0000049DA2	537					SNV	OGFOD1,missense_variant,p.Ser537Pro,ENST00000566157,NM_018233.3;OGFOD1,missense_variant,p.Ser494Pro,ENST00000568397,;BBS2,intron_variant,,ENST00000564459,;BBS2,intron_variant,,ENST00000564123,;OGFOD1,3_prime_UTR_variant,,ENST00000336111,;	uc002ejb.2	c.1609T>C	1732/4647	3	3			c.1609T>C						16	SNP	c.(1609-1611)TCA>CCA	52	52			skin(1)	1	Broad	2-oxoglutarate and iron-dependent oxygenase		Vitamin C(DB00126)	56510097		0.418	ENSG00000087263	10650	g.chr16:56510097T>C			iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen							72.486911	KEEP	15	9	-1	36	34	15	9	-1	76.852195	36	34	0.264368	1	0	0	0	0	1	0	0	0	--	--		0	C			OGFOD1_uc002ejc.2_Missense_Mutation_p.S397P	46	GBM-06-0209-TP	p.S537P	T	CTGGGACTTTTCATTCATCTA	NM_018233	NP_060703	56510097	Q8N543	OGFD1_HUMAN	0			13	1710	+	C	C			Missense_Mutation	537						
OGG1	0	broad.mit.edu	GRCh37	3	9798237	9798237	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01	TCGA-14-1823-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344629.7:c.830G>A	p.Arg277His	p.R277H	ENST00000344629		277	cGt/cAt	0			1			A	R/H	uc003bsi.2	protein_coding		CCDS2581.1			830/1038										0	c.(829-831)CGT>CAT		BER_DNA_glycosylases	Gene3D:1.10.1670.10,Pfam_domain:PF00730,hmmpanther:PTHR10242,hmmpanther:PTHR10242:SF2,SMART_domains:SM00478,Superfamily_domains:SSF48150,TIGRFAM_domain:TIGR00588	8-oxoguanine DNA-glycosylase 1 isoform 1a				ENSP00000342851		7-May									COSM3408920,COSM3408918,COSM3408919,COSM3408917,COSM3408921	7-May	.		ENST00000344629	Transcript	1		depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding	ENSG00000114026	g.chr3:9798237G>A	8125			MODERATE		2.67	medium	getma.org/?cm=msa&ty=f&p=OGG1_HUMAN&rb=142&re=301&var=R277H	getma.org/pdb.php?prot=OGG1_HUMAN&from=142&to=301&var=R277H	getma.org/?cm=var&var=hg19,3,9798237,G,A&fts=all	R277H	--	--	1																																		OGG1_uc003bsh.2_Missense_Mutation_p.R277H|OGG1_uc003bsj.2_Missense_Mutation_p.R277H|OGG1_uc003bsk.2_Missense_Mutation_p.R277H|OGG1_uc003bsl.2_Missense_Mutation_p.R277H|OGG1_uc003bsm.2_Missense_Mutation_p.R277H|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|OGG1_uc003bsp.1_Missense_Mutation_p.R42H|OGG1_uc010hcm.1_Intron|OGG1_uc003bsq.1_Intron|OGG1_uc003bsr.1_Missense_Mutation_p.R42H	1,1,1,1,1			benign(0.062)	p.R277H	NM_002542	NP_002533		deleterious(0.03)	1,1,1,1,1	OGG1_HUMAN	OGG1	HGNC	O15527	OGG1_HUMAN			E5KPN1_HUMAN		5	1173	+	Medulloblastoma(99;0.227)		UPI0000130C46	277					SNV	OGG1,missense_variant,p.Arg277His,ENST00000302036,NM_016821.2;OGG1,missense_variant,p.Arg277His,ENST00000302008,NM_016828.2;OGG1,missense_variant,p.Arg277His,ENST00000449570,NM_016829.2;OGG1,missense_variant,p.Arg277His,ENST00000339511,NM_016819.3;OGG1,missense_variant,p.Arg277His,ENST00000344629,;OGG1,missense_variant,p.Arg277His,ENST00000302003,NM_016820.3,NM_002542.5;OGG1,missense_variant,p.Arg175His,ENST00000441094,;OGG1,missense_variant,p.Arg44His,ENST00000416333,;OGG1,intron_variant,,ENST00000349503,NM_016826.2;OGG1,intron_variant,,ENST00000352937,;OGG1,intron_variant,,ENST00000383826,NM_016827.2;OGG1,intron_variant,,ENST00000426518,;CAMK1,downstream_gene_variant,,ENST00000256460,NM_003656.4;CAMK1,downstream_gene_variant,,ENST00000421120,;OGG1,intron_variant,,ENST00000383825,;OGG1,3_prime_UTR_variant,,ENST00000425665,;OGG1,3_prime_UTR_variant,,ENST00000429146,;OGG1,upstream_gene_variant,,ENST00000602976,;CAMK1,downstream_gene_variant,,ENST00000496534,;CAMK1,downstream_gene_variant,,ENST00000397277,;CAMK1,downstream_gene_variant,,ENST00000482803,;OGG1,downstream_gene_variant,,ENST00000432857,;	uc003bsi.2	c.830G>A	1173/1744	1	1			c.830G>A						3	SNP	c.(829-831)CGT>CAT	55	55				0	Broad	8-oxoguanine DNA-glycosylase 1 isoform 1a	BER_DNA_glycosylases		9798237		0.602	ENSG00000114026	10654	g.chr3:9798237G>A	depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			40			40	91.179143	KEEP	18	16	-1	32	29	18	16	-1	92.831595	32	29	0.355556	1	0	0	0	0	1	0	0	0	--	--		0	A			OGG1_uc003bsh.2_Missense_Mutation_p.R277H|OGG1_uc003bsj.2_Missense_Mutation_p.R277H|OGG1_uc003bsk.2_Missense_Mutation_p.R277H|OGG1_uc003bsl.2_Missense_Mutation_p.R277H|OGG1_uc003bsm.2_Missense_Mutation_p.R277H|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|OGG1_uc003bsp.1_Missense_Mutation_p.R42H|OGG1_uc010hcm.1_Intron|OGG1_uc003bsq.1_Intron|OGG1_uc003bsr.1_Missense_Mutation_p.R42H	147	GBM-14-1823-TP	p.R277H	G	ATTGCCCAACGTGACTACAGC	NM_002542	NP_002533	9798237	O15527	OGG1_HUMAN	0			5	1173	+	A	A	Medulloblastoma(99;0.227)		Missense_Mutation	277						
OIT3	0	broad.mit.edu	GRCh37	10	74666378	74666378	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-27-1831-01	TCGA-27-1831-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334011.5:c.569A>G	p.Asn190Ser	p.N190S	ENST00000334011	NM_152635.1	190	aAc/aGc	0			1			G	N/S	uc001jte.1	protein_coding	YES	CCDS7318.1			569/1638									ovary(2)	2	c.(568-570)AAC>AGC			hmmpanther:PTHR22962,hmmpanther:PTHR22962:SF131,PROSITE_patterns:PS01187,Gene3D:2.10.25.10,Pfam_domain:PF14670,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57196	oncoprotein-induced transcript 3 precursor				ENSP00000333900		9-Apr	8.24E-06							6.11E-05	rs779208918,COSM3397236	9-Apr	.		ENST00000334011	Transcript				nuclear envelope	calcium ion binding	ENSG00000138315	g.chr10:74666378A>G	29953			MODERATE		1.85	low	getma.org/?cm=msa&ty=f&p=OIT3_HUMAN&rb=4&re=266&var=N190S	getma.org/pdb.php?prot=OIT3_HUMAN&from=4&to=266&var=N190S	getma.org/?cm=var&var=hg19,10,74666378,A,G&fts=all	N190S	--	--	1																																		OIT3_uc009xqs.1_RNA	0,1	1		benign(0.316)	p.N190S	NM_152635	NP_689848		tolerated(0.31)	0,1	OIT3_HUMAN	OIT3	HGNC	Q8WWZ8	OIT3_HUMAN					4	787	+	Prostate(51;0.0198)		UPI00000389F9	190			EGF-like; calcium-binding (Potential).		SNV	OIT3,missense_variant,p.Asn190Ser,ENST00000334011,NM_152635.1;	uc001jte.1	c.569A>G	787/2365	3	3			c.569A>G						10	SNP	c.(568-570)AAC>AGC	8	8			ovary(2)	2	Broad	oncoprotein-induced transcript 3 precursor			74666378		0.488	ENSG00000138315	10658	g.chr10:74666378A>G		nuclear envelope	calcium ion binding	Colon(7;19 345 13446 17537)			Colon(7;19 345 13446 17537)			273.144296	KEEP	43	44	-1	91	93	43	44	-1	277.83909	91	93	0.347826	1	0	0	0	0	1	0	0	0	--	--		0	G			OIT3_uc009xqs.1_RNA	190	GBM-27-1831-TP	p.N190S	A	GAGCAAAACAACGGTGGCTGC	NM_152635	NP_689848	74666378	Q8WWZ8	OIT3_HUMAN	0			4	787	+	G	G	Prostate(51;0.0198)		Missense_Mutation	190			EGF-like; calcium-binding (Potential).			
OLA1	29789	broad.mit.edu	GRCh37	2	174945887	174945887	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0129-01	TCGA-06-0129-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284719.3:c.959C>G	p.Thr320Ser	p.T320S	ENST00000284719	NM_013341.3	320	aCc/aGc	0			1			C	T/S	uc002uih.2	protein_coding	YES	CCDS2255.1			959/1191									ovary(1)|breast(1)	2	c.(958-960)ACC>AGC			HAMAP:MF_00944,hmmpanther:PTHR23305,Pfam_domain:PF06071,TIGRFAM_domain:TIGR00092,Gene3D:3.10.20.30,PIRSF_domain:PIRSF006641,Superfamily_domains:SSF52540,Superfamily_domains:SSF81271	Obg-like ATPase 1 isoform 1				ENSP00000284719		11-Sep									COSM3407067	11-Sep	.		ENST00000284719	Transcript			ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding	ENSG00000138430	g.chr2:174945887G>C	28833			MODERATE		2.975	medium	getma.org/?cm=msa&ty=f&p=OLA1_HUMAN&rb=305&re=388&var=T320S	getma.org/pdb.php?prot=OLA1_HUMAN&from=305&to=388&var=T320S	getma.org/?cm=var&var=hg19,2,174945887,G,C&fts=all	T320S	--	--	1																																		OLA1_uc002uii.2_Missense_Mutation_p.T162S|OLA1_uc010fqq.2_Missense_Mutation_p.T299S|OLA1_uc002uij.2_Missense_Mutation_p.T162S|OLA1_uc002uik.2_Missense_Mutation_p.T290S|OLA1_uc010fqr.2_Intron	1	1		possibly_damaging(0.569)	p.T320S	NM_013341	NP_037473		deleterious(0.02)	1	OLA1_HUMAN	OLA1	HGNC	Q9NTK5	OLA1_HUMAN			Q53SW9_HUMAN,Q53SQ6_HUMAN,C9JTK6_HUMAN,C9JCJ9_HUMAN		9	1145	-			UPI00001328C1	320					SNV	OLA1,missense_variant,p.Thr320Ser,ENST00000284719,NM_013341.3;OLA1,missense_variant,p.Thr340Ser,ENST00000409546,;OLA1,missense_variant,p.Thr162Ser,ENST00000344357,NM_001011708.1;OLA1,intron_variant,,ENST00000428402,;OLA1,downstream_gene_variant,,ENST00000429575,;OLA1,non_coding_transcript_exon_variant,,ENST00000392560,;OLA1,non_coding_transcript_exon_variant,,ENST00000462000,;OLA1,upstream_gene_variant,,ENST00000497760,;	uc002uih.2	c.959C>G	1206/4417	3	3			c.959C>G						2	SNP	c.(958-960)ACC>AGC	64	64			ovary(1)|breast(1)	2	Broad	Obg-like ATPase 1 isoform 1			174945887		0.418	ENSG00000138430	10659	g.chr2:174945887G>C	ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding							-10.297857	KEEP	0	5	-1	63	47	0	5	-1	12.837918	63	47	0.04717	1	0	0	0	0	1	0	0	0	--	--		0	C			OLA1_uc002uii.2_Missense_Mutation_p.T162S|OLA1_uc010fqq.2_Missense_Mutation_p.T299S|OLA1_uc002uij.2_Missense_Mutation_p.T162S|OLA1_uc002uik.2_Missense_Mutation_p.T290S|OLA1_uc010fqr.2_Intron	15	GBM-06-0129-TP	p.T320S	G	TACCCTGATGGTCCATGCACG	NM_013341	NP_037473	174945887	Q9NTK5	OLA1_HUMAN	0			9	1145	-	C	C			Missense_Mutation	320						
OLFM2	93145		GRCh37	19	9965148	9965148	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000264833.4:c.1079C>T	p.Ser360Phe	p.S360F	ENST00000264833	NM_058164.2	360	tCc/tTc	0																																																																																																																																																																																																																																												
OLFM4	0	broad.mit.edu	GRCh37	13	53624151	53624151	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000219022.2:c.778G>C	p.Val260Leu	p.V260L	ENST00000219022	NM_006418.4	260	Gtt/Ctt	0			1			C	V/L	uc001vhl.2	protein_coding	YES	CCDS9440.1			778/1533									skin(1)	1	c.(778-780)GTT>CTT			Pfam_domain:PF02191,PROSITE_profiles:PS51132,hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF7,SMART_domains:SM00284	olfactomedin 4 precursor				ENSP00000219022		5-May									COSM3399422	5-May	.		ENST00000219022	Transcript			cell adhesion	extracellular space		ENSG00000102837	g.chr13:53624151G>C	17190			MODERATE		2.545	medium	getma.org/?cm=msa&ty=f&p=OLFM4_HUMAN&rb=250&re=507&var=V260L	NA	getma.org/?cm=var&var=hg19,13,53624151,G,C&fts=all	V260L	--	--	1																																		OLFM4_uc001vhk.1_Intron	1	1		possibly_damaging(0.612)	p.V260L	NM_006418	NP_006409		tolerated(0.06)	1	OLFM4_HUMAN	OLFM4	HGNC	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)			5	778	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	UPI00000359F0	260			Olfactomedin-like.		SNV	OLFM4,missense_variant,p.Val260Leu,ENST00000219022,NM_006418.4;	uc001vhl.2	c.778G>C	856/2897	3	3			c.778G>C						13	SNP	c.(778-780)GTT>CTT	55	55			skin(1)	1	Broad	olfactomedin 4 precursor			53624151		0.448	ENSG00000102837	10664	g.chr13:53624151G>C	cell adhesion	extracellular space				717			717	-26.202963	KEEP	0	3	-1	85	77	0	3	-1	8.184814	85	77	0.022222	1	0	0	0	0	1	0	0	0	--	--		0	C			OLFM4_uc001vhk.1_Intron	235	GBM-32-2491-TP	p.V260L	G	ACCGTCTGTGGTTCAGCTCAA	NM_006418	NP_006409	53624151	Q6UX06	OLFM4_HUMAN	0		GBM - Glioblastoma multiforme(99;3.13e-08)	5	778	+	C	C		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	Missense_Mutation	260			Olfactomedin-like.			
OLFML1	283298	broad.mit.edu	GRCh37	11	7509544	7509544	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5414-01	TCGA-06-5414-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329293.3:c.316C>T	p.Arg106Ter	p.R106*	ENST00000329293	NM_198474.3	106	Cga/Tga	0			1			T	R/*	uc001mfi.2	protein_coding	YES	CCDS7779.1			316/1209									ovary(2)	2	c.(316-318)CGA>TGA			hmmpanther:PTHR23192:SF13,hmmpanther:PTHR23192	olfactomedin-like 1 precursor				ENSP00000332511		3-Feb	7.41E-05							0.000545	rs750542053,COSM3398136	3-Feb	common_variant		ENST00000329293	Transcript				extracellular region		ENSG00000183801	g.chr11:7509544C>T	24473			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,11,7509544,C,T&fts=all	R106*	--	--	1																																		uc001mff.1_Intron|OLFML1_uc001mfh.1_Nonsense_Mutation_p.R106*|OLFML1_uc010raz.1_Intron|OLFML1_uc010rba.1_Nonsense_Mutation_p.R106*	0,1	1			p.R106*	NM_198474	NP_940876			0,1	OLFL1_HUMAN	OLFML1	HGNC	Q6UWY5	OLFL1_HUMAN		Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)			2	668	+			UPI0000161991	106			Potential.		SNV	OLFML1,stop_gained,p.Arg106Ter,ENST00000329293,NM_198474.3;OLFML1,stop_gained,p.Arg106Ter,ENST00000530135,;OLFML1,intron_variant,,ENST00000528758,;OLFML1,downstream_gene_variant,,ENST00000534244,;CTD-2516F10.2,intron_variant,,ENST00000530201,;OLFML1,non_coding_transcript_exon_variant,,ENST00000528308,;	uc001mfi.2	c.316C>T	710/2792	5	1			c.316C>T						11	SNP	c.(316-318)CGA>TGA	16	16			ovary(2)	2	Broad	olfactomedin-like 1 precursor			7509544		0.478	ENSG00000183801	10665	g.chr11:7509544C>T		extracellular region								82.392087	KEEP	12	17	-1	19	34	12	17	-1	83.444435	19	34	0.373333	1	0	0	0	0	0	1	0	0	--	--		0	T			uc001mff.1_Intron|OLFML1_uc001mfh.1_Nonsense_Mutation_p.R106*|OLFML1_uc010raz.1_Intron|OLFML1_uc010rba.1_Nonsense_Mutation_p.R106*	97	GBM-06-5414-TP	p.R106*	C	ACAATACCTTCGAGAGGCTGA	NM_198474	NP_940876	7509544	Q6UWY5	OLFL1_HUMAN	0		Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	2	668	+	T	T			Nonsense_Mutation	106			Potential.			
OLFML2B	0	broad.mit.edu	GRCh37	1	161993080	161993080	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0692-01	TCGA-12-0692-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294794.3:c.141C>T	p.Asn47=	p.N47=	ENST00000294794	NM_015441.1	47	aaC/aaT	0			1			A	N	uc001gbu.2	protein_coding	YES	CCDS1236.1			141/2253									skin(1)	1	c.(139-141)AAC>AAT			hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF37	olfactomedin-like 2B precursor				ENSP00000294794		8-Jan	8.24E-06	9.72E-05							rs770352048,COSM2154270	8-Jan	.		ENST00000294794	Transcript						ENSG00000162745	g.chr1:161993080G>A	24558			LOW								--	--	1																																		OLFML2B_uc010pkq.1_Silent_p.N47N	0,1	1			p.N47N	NM_015441	NP_056256			0,1	OLM2B_HUMAN	OLFML2B	HGNC	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		H0YEW8_HUMAN,H0YE85_HUMAN		1	565	-	all_hematologic(112;0.156)		UPI00001D7DE0	47			Potential.		SNV	OLFML2B,synonymous_variant,p.=,ENST00000294794,NM_015441.1;OLFML2B,synonymous_variant,p.=,ENST00000367940,;	uc001gbu.2	c.141C>T	565/3160	2	2			c.141C>T						1	SNP	c.(139-141)AAC>AAT	47	47			skin(1)	1	Broad	olfactomedin-like 2B precursor			161993080		0.602	ENSG00000162745	10667	g.chr1:161993080G>A										65.531286	KEEP	19	14	-1	64	59	19	14	-1	74.864056	64	59	0.21875	1	0	0	0	0	0	0	1	0	--	--		0	A			OLFML2B_uc010pkq.1_Silent_p.N47N	122	GBM-12-0692-TP	p.N47N	G	TGTCCGCCTCGTTTTGCAGAG	NM_015441	NP_056256	161993080	Q68BL8	OLM2B_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.0172)		1	565	-	A	A	all_hematologic(112;0.156)		Silent	47			Potential.			
OLFML2B	0	broad.mit.edu	GRCh37	1	161967994	161967994	+	synonymous_variant	Silent	SNP	G	G	A	rs34123330	byFrequency	TCGA-14-3476-01	TCGA-14-3476-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294794.3:c.1095C>T	p.Asn365=	p.N365=	ENST00000294794	NM_015441.1	365	aaC/aaT	0	A:0.0064	A:0.0106	1	A:0		A	N	uc001gbu.2	protein_coding	YES	CCDS1236.1			1095/2253									skin(1)	1	c.(1093-1095)AAC>AAT			hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF37	olfactomedin-like 2B precursor		A:0	A:0	ENSP00000294794	A:0	8-Jun	0.00075	0.00711	0.000518			1.50E-05		0.00061	rs34123330,COSM295557	8-Jun	common_variant		ENST00000294794	Transcript		A:0.0028				ENSG00000162745	g.chr1:161967994G>A	24558			LOW								--	--	1																																		OLFML2B_uc010pkq.1_Silent_p.N366N	0,1	1			p.N365N	NM_015441	NP_056256	A:0		0,1	OLM2B_HUMAN	OLFML2B	HGNC	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		H0YEW8_HUMAN,H0YE85_HUMAN		6	1519	-	all_hematologic(112;0.156)		UPI00001D7DE0	365					SNV	OLFML2B,synonymous_variant,p.=,ENST00000294794,NM_015441.1;OLFML2B,synonymous_variant,p.=,ENST00000367940,;	uc001gbu.2	c.1095C>T	1519/3160	2	2			c.1095C>T						1	SNP	c.(1093-1095)AAC>AAT	18	18			skin(1)	1	Broad	olfactomedin-like 2B precursor			161967994		0.612	ENSG00000162745	10667	g.chr1:161967994G>A										47.13099	KEEP	17	22	-1	105	167	17	22	-1	84.632969	105	167	0.126812	1	0	0	0	0	0	0	1	0	--	--		0	A			OLFML2B_uc010pkq.1_Silent_p.N366N	151	GBM-14-3476-TP	p.N365N	G	CGGTCCGAGCGTTCAGGTCGC	NM_015441	NP_056256	161967994	Q68BL8	OLM2B_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.0172)		6	1519	-	A	A	all_hematologic(112;0.156)		Silent	365						
OLFML2B	0	broad.mit.edu	GRCh37	1	161987297	161987297	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01	TCGA-16-0846-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294794.3:c.439C>T	p.Leu147Phe	p.L147F	ENST00000294794	NM_015441.1	147	Ctc/Ttc	0			1			A	L/F	uc001gbu.2	protein_coding	YES	CCDS1236.1			439/2253									skin(1)	1	c.(439-441)CTC>TTC			hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF37	olfactomedin-like 2B precursor				ENSP00000294794		8-Mar									COSM3399929	8-Mar	.		ENST00000294794	Transcript						ENSG00000162745	g.chr1:161987297G>A	24558			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=OLM2B_HUMAN&rb=42&re=343&var=L147F	NA	getma.org/?cm=var&var=hg19,1,161987297,G,A&fts=all	L147F	--	--	1																																		OLFML2B_uc010pkq.1_Missense_Mutation_p.L147F	1	1		probably_damaging(0.96)	p.L147F	NM_015441	NP_056256		deleterious(0.04)	1	OLM2B_HUMAN	OLFML2B	HGNC	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		H0YEW8_HUMAN,H0YE85_HUMAN		3	863	-	all_hematologic(112;0.156)		UPI00001D7DE0	147					SNV	OLFML2B,missense_variant,p.Leu147Phe,ENST00000294794,NM_015441.1;OLFML2B,missense_variant,p.Leu147Phe,ENST00000367940,;	uc001gbu.2	c.439C>T	863/3160	2	2			c.439C>T						1	SNP	c.(439-441)CTC>TTC	29	29			skin(1)	1	Broad	olfactomedin-like 2B precursor			161987297		0.522	ENSG00000162745	10667	g.chr1:161987297G>A										82.812499	KEEP	21	13	-1	41	26	21	13	-1	85.606648	41	26	0.319588	1	0	0	0	0	1	0	0	0	--	--		0	A			OLFML2B_uc010pkq.1_Missense_Mutation_p.L147F	155	GBM-16-0846-TP	p.L147F	G	ATTGTGGAGAGCTATGAAACA	NM_015441	NP_056256	161987297	Q68BL8	OLM2B_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.0172)		3	863	-	A	A	all_hematologic(112;0.156)		Missense_Mutation	147						
OLIG2	10215	broad.mit.edu	GRCh37	21	34399532	34399532	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0644-01	TCGA-06-0644-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333337.3:c.362T>A	p.Met121Lys	p.M121K	ENST00000333337		121	aTg/aAg	0			1			A	M/K	uc002yqx.1	protein_coding	YES	CCDS13620.1			362/972	T		TRA@		T-ALL				central_nervous_system(2)	2	c.(361-363)ATG>AAG			PROSITE_profiles:PS50888,hmmpanther:PTHR19290:SF32,hmmpanther:PTHR19290,Pfam_domain:PF00010,Gene3D:4.10.280.10,SMART_domains:SM00353,Superfamily_domains:SSF47459	oligodendrocyte lineage transcription factor 2				ENSP00000331040		1-Jan									COSM1559581	1-Jan	.		ENST00000333337	Transcript				cytoplasm|nucleus|plasma membrane	DNA binding	ENSG00000205927	g.chr21:34399532T>A	9398			MODERATE		3.885	high	getma.org/?cm=msa&ty=f&p=OLIG2_HUMAN&rb=109&re=163&var=M121K	getma.org/pdb.php?prot=OLIG2_HUMAN&from=109&to=163&var=M121K	getma.org/?cm=var&var=hg19,21,34399532,T,A&fts=all	M121K	--	--	1																																			1	1		probably_damaging(0.995)	p.M121K	NM_005806	NP_005797		deleterious(0)	1	OLIG2_HUMAN	OLIG2	HGNC	Q13516	OLIG2_HUMAN			Q05BP9_HUMAN,C9J444_HUMAN		2	520	+			UPI0000130C83	121			Helix-loop-helix motif.		SNV	OLIG2,missense_variant,p.Met121Lys,ENST00000333337,;OLIG2,missense_variant,p.Met121Lys,ENST00000382357,NM_005806.3;OLIG2,downstream_gene_variant,,ENST00000430860,;AP000282.2,intron_variant,,ENST00000454622,;AP000282.2,intron_variant,,ENST00000420356,;	uc002yqx.1	c.362T>A	1290/3262	2	2			c.362T>A	T		TRA@		T-ALL	21	SNP	c.(361-363)ATG>AAG	36	36			central_nervous_system(2)	2	Broad	oligodendrocyte lineage transcription factor 2			34399532		0.622	ENSG00000205927	10669	g.chr21:34399532T>A		cytoplasm|nucleus|plasma membrane	DNA binding			15			15	14.669115	KEEP	2	4	-1	8	7	2	4	-1	15.313484	8	7	0.294118	1	0	0	0	0	1	0	0	0	--	--		0	A				58	GBM-06-0644-TP	p.M121K	T	CGCAAGCGCATGCACGACCTC	NM_005806	NP_005797	34399532	Q13516	OLIG2_HUMAN	0			2	520	+	A	A			Missense_Mutation	121			Helix-loop-helix motif.			
OLIG3	167826		GRCh37	6	137815222	137815222	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000367734.2:c.86A>G	p.His29Arg	p.H29R	ENST00000367734	NM_175747.2	29	cAc/cGc	0																																																																																																																																																																																																																																												
OLR1	0	broad.mit.edu	GRCh37	12	10319338	10319338	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-15-0742-01	TCGA-15-0742-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309539.3:c.397A>T	p.Thr133Ser	p.T133S	ENST00000309539	NM_002543.3	133	Aca/Tca	0			1			A	T/S	uc001qxo.1	protein_coding	YES	CCDS8618.1			397/822									ovary(1)	1	c.(397-399)ACA>TCA			hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF146,Gene3D:3.10.100.10,Superfamily_domains:SSF56436	oxidized low density lipoprotein (lectin-like)				ENSP00000309124		6-Mar									COSM3398261	6-Mar	.		ENST00000309539	Transcript			blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding	ENSG00000173391	g.chr12:10319338T>A	8133			MODERATE		1.2	low	getma.org/?cm=msa&ty=f&p=OLR1_HUMAN&rb=120&re=160&var=T133S	NA	getma.org/?cm=var&var=hg19,12,10319338,T,A&fts=all	T133S	--	--	1																																		OLR1_uc010sgz.1_Missense_Mutation_p.T29S|OLR1_uc010sha.1_Missense_Mutation_p.T133S	1	1		benign(0.031)	p.T133S	NM_002543	NP_002534		deleterious(0.03)	1	OLR1_HUMAN	OLR1	HGNC	P78380	OLR1_HUMAN			J3QTI8_HUMAN,F5H7N8_HUMAN,F5H3G7_HUMAN,F5H0N6_HUMAN,F5H001_HUMAN		3	511	-			UPI000004A917	133			Extracellular (Potential).|Neck.		SNV	OLR1,missense_variant,p.Thr133Ser,ENST00000309539,NM_002543.3;OLR1,missense_variant,p.Thr133Ser,ENST00000545927,NM_001172633.1;OLR1,missense_variant,p.Thr133Ser,ENST00000432556,NM_001172632.1;OLR1,missense_variant,p.Thr133Ser,ENST00000544577,;OLR1,missense_variant,p.Thr29Ser,ENST00000543993,;OLR1,missense_variant,p.Thr80Ser,ENST00000539518,;OLR1,missense_variant,p.Thr29Ser,ENST00000339968,;OLR1,missense_variant,p.Thr29Ser,ENST00000538745,;OLR1,missense_variant,p.Thr29Ser,ENST00000538873,;OLR1,missense_variant,p.Thr80Ser,ENST00000543414,;TMEM52B,upstream_gene_variant,,ENST00000381923,NM_001079815.1;TMEM52B,upstream_gene_variant,,ENST00000545924,;TMEM52B,upstream_gene_variant,,ENST00000334148,;	uc001qxo.1	c.397A>T	458/2460	2	2			c.397A>T						12	SNP	c.(397-399)ACA>TCA	46	46			ovary(1)	1	Broad	oxidized low density lipoprotein (lectin-like)			10319338		0.403	ENSG00000173391	10671	g.chr12:10319338T>A	blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding							268.299376	KEEP	60	41	-1	102	52	60	41	-1	270.594415	102	52	0.393013	1	0	0	0	0	1	0	0	0	--	--		0	A			OLR1_uc010sgz.1_Missense_Mutation_p.T29S|OLR1_uc010sha.1_Missense_Mutation_p.T133S	153	GBM-15-0742-TP	p.T133S	T	CTCTTCAGTGTTTCTTGGAGA	NM_002543	NP_002534	10319338	P78380	OLR1_HUMAN	0			3	511	-	A	A			Missense_Mutation	133			Extracellular (Potential).|Neck.			
ONECUT1	3175		GRCh37	15	53081863	53081863	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000305901.5:c.219G>A	p.Arg73=	p.R73=	ENST00000305901	NM_004498.2	73	cgG/cgA	0																																																																																																																																																																																																																																												
ONECUT2	9480	broad.mit.edu	GRCh37	18	55143848	55143848	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0171-01	TCGA-06-0171-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000491143.2:c.1408G>A	p.Val470Ile	p.V470I	ENST00000491143	NM_004852.2	470	Gtc/Atc	0			1			A	V/I	uc002lgo.2	protein_coding	YES	CCDS42440.1			1408/1515								p.V470I(1)	ovary(2)|central_nervous_system(1)	3	c.(1408-1410)GTC>ATC			PROSITE_profiles:PS50071,hmmpanther:PTHR14057:SF10,hmmpanther:PTHR14057,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689	one cut domain, family member 2				ENSP00000419185		2-Feb	8.25E-06		8.64E-05						rs769761027,COSM42821	2-Feb	.		ENST00000491143	Transcript			organ morphogenesis	nucleus	sequence-specific DNA binding	ENSG00000119547	g.chr18:55143848G>A	8139			MODERATE		2.155	medium	getma.org/?cm=msa&ty=f&p=ONEC2_HUMAN&rb=427&re=482&var=V470I	getma.org/pdb.php?prot=ONEC2_HUMAN&from=427&to=482&var=V470I	getma.org/?cm=var&var=hg19,18,55143848,G,A&fts=all	V470I	--	--	1																																			0,1	1		probably_damaging(0.998)	p.V470I	NM_004852	NP_004843		tolerated(0.08)	0,1	ONEC2_HUMAN	ONECUT2	HGNC	O95948	ONEC2_HUMAN		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)			2	1440	+		Colorectal(73;0.234)	UPI0000201DC1	470			Homeobox.		SNV	ONECUT2,missense_variant,p.Val470Ile,ENST00000491143,NM_004852.2;ONECUT2,missense_variant,p.Val99Ile,ENST00000481727,;	uc002lgo.2	c.1408G>A	1440/16121	1	1			c.1408G>A						18	SNP	c.(1408-1410)GTC>ATC	56	56		p.V470I(1)	ovary(2)|central_nervous_system(1)	3	Broad	one cut domain, family member 2			55143848		0.587	ENSG00000119547	10677	g.chr18:55143848G>A	organ morphogenesis	nucleus	sequence-specific DNA binding							92.771613	KEEP	15	24	-1	53	48	15	24	-1	98.054103	53	48	0.282258	1	0	0	0	0	1	0	0	0	--	--		0	A				35	GBM-06-0171-TP	p.V470I	G	GCTCACAACCGTCAGCAACTT	NM_004852	NP_004843	55143848	O95948	ONEC2_HUMAN	0		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)	2	1440	+	A	A		Colorectal(73;0.234)	Missense_Mutation	470			Homeobox.			
ONECUT2	9480		GRCh37	18	55143729	55143729	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000491143.2:c.1289G>A	p.Arg430His	p.R430H	ENST00000491143	NM_004852.2	430	cGc/cAc	0																																																																																																																																																																																																																																												
OOEP	441161	broad.mit.edu	GRCh37	6	74079390	74079390	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0152-01	TCGA-06-0152-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370359.5:c.126G>A	p.Pro42=	p.P42=	ENST00000370359	NM_001080507.2	42	ccG/ccA	0			1			T	P	uc003pgu.3	protein_coding	YES	CCDS47451.1			126/450										0	c.(124-126)CCG>CCA			hmmpanther:PTHR19447:SF14,hmmpanther:PTHR19447	oocyte expressed protein homolog				ENSP00000359384		3-Jan									COSM2149874	3-Jan	.		ENST00000370359	Transcript				cytoplasm		ENSG00000203907	g.chr6:74079390C>T	21382			LOW								--	--	1																																		OOEP_uc003pgv.3_Intron	1	1			p.P42P	NM_001080507	NP_001073976			1	OOEP_HUMAN	OOEP	HGNC	A6NGQ2	OOEP_HUMAN					1	126	-			UPI00001D8132	42					SNV	OOEP,synonymous_variant,p.=,ENST00000370359,NM_001080507.2;OOEP,intron_variant,,ENST00000370363,;OOEP,intron_variant,,ENST00000441145,;OOEP-AS1,upstream_gene_variant,,ENST00000445350,;RPL39P3,downstream_gene_variant,,ENST00000424573,;	uc003pgu.3	c.126G>A	126/478	2	2			c.126G>A						6	SNP	c.(124-126)CCG>CCA	30	30				0	Broad	oocyte expressed protein homolog			74079390		0.622	ENSG00000203907	10678	g.chr6:74079390C>T		cytoplasm								116.555551	KEEP	36	30	-1	67	82	36	30	-1	124.608398	67	82	0.265432	1	0	0	0	0	0	0	1	0	--	--		0	T			OOEP_uc003pgv.3_Intron	25	GBM-06-0152-TP	p.P42P	C	GTTCCTGCACCGGAAACCACC	NM_001080507	NP_001073976	74079390	A6NGQ2	OOEP_HUMAN	0			1	126	-	T	T			Silent	42						
OOSP2	0	broad.mit.edu	GRCh37	11	59812205	59812205	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-19-1790-01	TCGA-19-1790-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278855.2:c.305A>T	p.Asp102Val	p.D102V	ENST00000278855	NM_173801.3	102	gAt/gTt	0			1			T	D/V	uc001nol.2	protein_coding	YES	CCDS7979.1			305/477									ovary(2)|skin(1)	3	c.(304-306)GAT>GTT			Pfam_domain:PF00100,hmmpanther:PTHR14380,hmmpanther:PTHR14380:SF7	placenta-specific 1-like precursor				ENSP00000278855		4-Mar									COSM3397933	4-Mar	.		ENST00000278855	Transcript				extracellular region		ENSG00000149507	g.chr11:59812205A>T	26699			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=PLACL_HUMAN&rb=1&re=158&var=D102V	NA	getma.org/?cm=var&var=hg19,11,59812205,A,T&fts=all	D102V	--	--	1																																			1	1		benign(0.023)	p.D102V	NM_173801	NP_776162		tolerated(0.42)	1	OOSP2_HUMAN	OOSP2	HGNC	Q86WS3	PLACL_HUMAN					3	490	+			UPI000000DC90	102					SNV	OOSP2,missense_variant,p.Asp102Val,ENST00000278855,NM_173801.3;OOSP2,missense_variant,p.Asp71Val,ENST00000532905,;OOSP2,downstream_gene_variant,,ENST00000527395,;	uc001nol.2	c.305A>T	490/1633	1	1			c.305A>T						11	SNP	c.(304-306)GAT>GTT	12	12			ovary(2)|skin(1)	3	Broad	placenta-specific 1-like precursor			59812205		0.408	ENSG00000149507	11816	g.chr11:59812205A>T		extracellular region								49.018392	KEEP	6	18	-1	56	48	6	18	-1	56.999985	56	48	0.207921	1	0	0	0	0	1	0	0	0	--	--		0	T				160	GBM-19-1790-TP	p.D102V	A	AGGAATATAGATCATGACCCT	NM_173801	NP_776162	59812205	Q86WS3	PLACL_HUMAN	0			3	490	+	T	T			Missense_Mutation	102						
OPA3	80207	broad.mit.edu	GRCh37	19	46056784	46056784	+	intron_variant	Intron	SNP	C	C	T			TCGA-06-5415-01	TCGA-06-5415-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323060.3:c.143-24070G>A		p.*48*	ENST00000323060	NM_001017989.2	176		0			1			T	A	uc002pck.3	protein_coding		CCDS12668.1			528/540										0	c.(526-528)GCG>GCA				OPA3 protein isoform b				ENSP00000263275		2-Feb	3.30E-05				0.000151	4.73E-05			rs752240099,COSM2153214	2-Feb	.		ENST00000263275	Transcript	1		response to stimulus|visual perception	mitochondrion		ENSG00000125741	g.chr19:46056784C>T	8142			LOW								--	--	1																																		OPA3_uc002pcj.3_Intron|OPA3_uc010xxk.1_Silent_p.A123A	0,1				p.A176A	NM_025136	NP_079412			0,1	OPA3_HUMAN	OPA3	HGNC	Q9H6K4	OPA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)	B4DK77_HUMAN		2	628	-		Ovarian(192;0.051)|all_neural(266;0.112)	UPI0000130D53	176					SNV	OPA3,synonymous_variant,p.=,ENST00000263275,NM_025136.3;OPA3,synonymous_variant,p.=,ENST00000544371,;OPA3,intron_variant,,ENST00000323060,NM_001017989.2;	uc002pck.3	c.528G>A	583/7828	1	1			c.528G>A						19	SNP	c.(526-528)GCG>GCA	2	2				0	Broad	OPA3 protein isoform b			46056784		0.637	ENSG00000125741	10680	g.chr19:46056784C>T	response to stimulus|visual perception	mitochondrion								170.787368	KEEP	29	48	-1	48	60	29	48	-1	172.282884	48	60	0.393333	1	0	0	0	0	0	0	1	0	--	--		0	T			OPA3_uc002pcj.3_Intron|OPA3_uc010xxk.1_Silent_p.A123A	98	GBM-06-5415-TP	p.A176A	C	ATTTCTTGGACGCAGGCACTG	NM_025136	NP_079412	46056784	Q9H6K4	OPA3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)	2	628	-	T	T		Ovarian(192;0.051)|all_neural(266;0.112)	Silent	176						
OPCML	0	broad.mit.edu	GRCh37	11	132527102	132527102	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-27-1834-01	TCGA-27-1834-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331898.7:c.280A>T	p.Thr94Ser	p.T94S	ENST00000331898	NM_002545.3	94	Aca/Tca	0			1			A	T/S	uc001qgs.2	protein_coding	YES	CCDS8492.1			280/1038									ovary(2)|skin(1)	3	c.(280-282)ACA>TCA			Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR19831:SF14,hmmpanther:PTHR19831,PROSITE_profiles:PS50835	opioid binding protein/cell adhesion				ENSP00000330862		7-Feb									COSM3397569,COSM3397570	7-Feb	.		ENST00000331898	Transcript	1		cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	ENSG00000183715	g.chr11:132527102T>A	8143			MODERATE		-0.105	neutral	getma.org/?cm=msa&ty=f&p=OPCM_HUMAN&rb=36&re=132&var=T94S	getma.org/pdb.php?prot=OPCM_HUMAN&from=36&to=132&var=T94S	getma.org/?cm=var&var=hg19,11,132527102,T,A&fts=all	T94S	--	--	1																																		OPCML_uc001qgu.2_Missense_Mutation_p.T87S|OPCML_uc010sck.1_Missense_Mutation_p.T94S|OPCML_uc001qgt.2_Missense_Mutation_p.T94S|OPCML_uc010scl.1_Missense_Mutation_p.T53S	1,1	1		possibly_damaging(0.679)	p.T94S	NM_002545	NP_002536		tolerated(0.36)	1,1	OPCM_HUMAN	OPCML	HGNC	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	B7ZLQ0_HUMAN,B2CZX3_HUMAN,A8K0Y0_HUMAN		2	330	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	UPI0000055AE0	94			Ig-like C2-type 1.		SNV	OPCML,missense_variant,p.Thr94Ser,ENST00000331898,NM_002545.3;OPCML,missense_variant,p.Thr87Ser,ENST00000524381,NM_001012393.1;OPCML,missense_variant,p.Thr53Ser,ENST00000374778,;OPCML,missense_variant,p.Thr94Ser,ENST00000541867,;OPCML,non_coding_transcript_exon_variant,,ENST00000529038,;OPCML,non_coding_transcript_exon_variant,,ENST00000525412,;	uc001qgs.2	c.280A>T	859/6833	1	1			c.280A>T						11	SNP	c.(280-282)ACA>TCA	51	51			ovary(2)|skin(1)	3	Broad	opioid binding protein/cell adhesion			132527102		0.532	ENSG00000183715	10682	g.chr11:132527102T>A	cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity							-17.805612	KEEP	3	9	-1	105	91	3	9	-1	22.492642	105	91	0.05641	1	0	0	0	0	1	0	0	0	--	--		0	A			OPCML_uc001qgu.2_Missense_Mutation_p.T87S|OPCML_uc010sck.1_Missense_Mutation_p.T94S|OPCML_uc001qgt.2_Missense_Mutation_p.T94S|OPCML_uc010scl.1_Missense_Mutation_p.T53S	193	GBM-27-1834-TP	p.T94S	T	TGGGTTGGTGTATTGACCAGG	NM_002545	NP_002536	132527102	Q14982	OPCM_HUMAN	0		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	2	330	-	A	A	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	Missense_Mutation	94			Ig-like C2-type 1.			
OPHN1	4983	broad.mit.edu	GRCh37	X	67421527	67421527	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-2563-01	TCGA-06-2563-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355520.5:c.959A>G	p.Tyr320Cys	p.Y320C	ENST00000355520	NM_002547.2	320	tAc/tGc	0			1			C	Y/C	uc004dww.3	protein_coding	YES	CCDS14388.1			959/2409									ovary(2)	2	c.(958-960)TAC>TGC			Gene3D:2.30.29.30,PROSITE_profiles:PS50003,hmmpanther:PTHR12552,hmmpanther:PTHR12552:SF2,SMART_domains:SM00233,Superfamily_domains:SSF50729	oligophrenin 1				ENSP00000347710		25-Nov									COSM2152919	25-Nov	.		ENST00000355520	Transcript	1		axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	ENSG00000079482	g.chrX:67421527T>C	8148			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=OPHN1_HUMAN&rb=265&re=368&var=Y320C	NA	getma.org/?cm=var&var=hg19,X,67421527,T,C&fts=all	Y320C	--	--	1																																		OPHN1_uc011mpg.1_Missense_Mutation_p.Y320C	1	1		possibly_damaging(0.535)	p.Y320C	NM_002547	NP_002538		deleterious(0.03)	1	OPHN1_HUMAN	OPHN1	HGNC	O60890	OPHN1_HUMAN			Q7Z2H1_HUMAN		11	1253	-			UPI000003319E	320			PH.		SNV	OPHN1,missense_variant,p.Tyr320Cys,ENST00000355520,NM_002547.2;OPHN1,missense_variant,p.Tyr320Cys,ENST00000540071,;OPHN1,non_coding_transcript_exon_variant,,ENST00000467444,;	uc004dww.3	c.959A>G	1601/7879	3	3			c.959A>G						23	SNP	c.(958-960)TAC>TGC	10	10			ovary(2)	2	Broad	oligophrenin 1			67421527		0.418	ENSG00000079482	10683	g.chrX:67421527T>C	axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding							365.158024	KEEP	60	55	-1	66	84	60	55	-1	366.000205	66	84	0.435345	1	0	0	0	0	1	0	0	0	--	--		0	C			OPHN1_uc011mpg.1_Missense_Mutation_p.Y320C	86	GBM-06-2563-TP	p.Y320C	T	TCTCACACAGTACTTCAGTGT	NM_002547	NP_002538	67421527	O60890	OPHN1_HUMAN	0			11	1253	-	C	C			Missense_Mutation	320			PH.			
OPHN1	0	broad.mit.edu	GRCh37	X	67331781	67331781	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01	TCGA-32-2495-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355520.5:c.1441C>T	p.Arg481Cys	p.R481C	ENST00000355520	NM_002547.2	481	Cgc/Tgc	0			1			A	R/C	uc004dww.3	protein_coding	YES	CCDS14388.1			1441/2409									ovary(2)	2	c.(1441-1443)CGC>TGC			Gene3D:1.10.555.10,Pfam_domain:PF00620,PROSITE_profiles:PS50238,hmmpanther:PTHR12552,hmmpanther:PTHR12552:SF2,SMART_domains:SM00324,Superfamily_domains:SSF48350	oligophrenin 1				ENSP00000347710		18/25									COSM3406533	18/25	.		ENST00000355520	Transcript	1		axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	ENSG00000079482	g.chrX:67331781G>A	8148			MODERATE		3.02	medium	getma.org/?cm=msa&ty=f&p=OPHN1_HUMAN&rb=388&re=541&var=R481C	getma.org/pdb.php?prot=OPHN1_HUMAN&from=388&to=541&var=R481C	getma.org/?cm=var&var=hg19,X,67331781,G,A&fts=all	R481C	--	--	1																																		OPHN1_uc011mpg.1_Missense_Mutation_p.R481C	1	1		probably_damaging(0.999)	p.R481C	NM_002547	NP_002538		deleterious(0)	1	OPHN1_HUMAN	OPHN1	HGNC	O60890	OPHN1_HUMAN			Q7Z2H1_HUMAN		18	1735	-			UPI000003319E	481			Rho-GAP.		SNV	OPHN1,missense_variant,p.Arg481Cys,ENST00000355520,NM_002547.2;OPHN1,missense_variant,p.Arg481Cys,ENST00000540071,;OPHN1,non_coding_transcript_exon_variant,,ENST00000484842,;	uc004dww.3	c.1441C>T	2083/7879	2	2			c.1441C>T						23	SNP	c.(1441-1443)CGC>TGC	48	48			ovary(2)	2	Broad	oligophrenin 1			67331781		0.403	ENSG00000079482	10683	g.chrX:67331781G>A	axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding							360.388162	KEEP	61	58	-1	46	63	61	58	-1	360.546253	46	63	0.530303	1	0	0	0	0	1	0	0	0	--	--		0	A			OPHN1_uc011mpg.1_Missense_Mutation_p.R481C	237	GBM-32-2495-TP	p.R481C	G	GCTCCTAGGCGGTAATCCAGG	NM_002547	NP_002538	67331781	O60890	OPHN1_HUMAN	0			18	1735	-	A	A			Missense_Mutation	481			Rho-GAP.			
OPLAH	26873	broad.mit.edu	GRCh37	8	145108275	145108275	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01	TCGA-06-5859-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000426825.1:c.2708C>T	p.Ala903Val	p.A903V	ENST00000426825	NM_017570.3	903	gCg/gTg	0		A:0	1	A:0		A	A/V	uc003zar.3	protein_coding	YES				2708/3867										0	c.(2707-2709)GCG>GTG			Pfam_domain:PF02538,hmmpanther:PTHR11365,hmmpanther:PTHR11365:SF2	5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)	A:0		ENSP00000475943	A:0.001	20/28	1.65E-05					3.09E-05			rs560233274,COSM3412852	20/28	.		ENST00000426825	Transcript	1	A:0.0002			5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	ENSG00000178814	g.chr8:145108275G>A	8149			MODERATE								--	--	1																																		OPLAH_uc003zas.1_Silent_p.G177G	0,1	1		possibly_damaging(0.815)	p.A903V	NM_017570	NP_060040	A:0	tolerated(0.16)	0,1	OPLA_HUMAN	OPLAH	HGNC	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)				20	2790	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		UPI000035154E	903					SNV	OPLAH,missense_variant,p.Ala903Val,ENST00000426825,NM_017570.3;CTD-3065J16.6,downstream_gene_variant,,ENST00000528912,;CTD-3065J16.6,downstream_gene_variant,,ENST00000561181,;OPLAH,non_coding_transcript_exon_variant,,ENST00000534424,;OPLAH,non_coding_transcript_exon_variant,,ENST00000527993,;OPLAH,non_coding_transcript_exon_variant,,ENST00000531027,;	uc003zar.3	c.2708C>T	2790/4008	1	1			c.2708C>T						8	SNP	c.(2707-2709)GCG>GTG	51	51				0	Broad	5-oxoprolinase (ATP-hydrolysing)		L-Glutamic Acid(DB00142)	145108275		0.642	ENSG00000178814	10684	g.chr8:145108275G>A			5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding							85.763997	KEEP	19	23	-1	36	47	19	23	-1	88.00422	36	47	0.336842	1	0	0	0	0	1	0	0	0	--	--		0	A			OPLAH_uc003zas.1_Silent_p.G177G	103	GBM-06-5859-TP	p.A903V	G	CTTGCCTGGCGCCCGCAGGGC	NM_017570	NP_060040	145108275	O14841	OPLA_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		20	2790	-	A	A	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	903						
OPN1LW	0	broad.mit.edu	GRCh37	X	153416186	153416186	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-14-3476-01	TCGA-14-3476-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369951.4:c.171T>C	p.Ser57=	p.S57=	ENST00000369951	NM_020061.4	57	agT/agC	0			1			C	S	uc004fjz.3	protein_coding	YES	CCDS14742.1			171/1095										0	c.(169-171)AGT>AGC			Transmembrane_helices:TMhelix,hmmpanther:PTHR24240:SF17,hmmpanther:PTHR24240,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	opsin 1 (cone pigments), long-wave-sensitive				ENSP00000358967		6-Feb									COSM3406137,COSM3406136	6-Feb	.		ENST00000369951	Transcript	1		phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	ENSG00000102076	g.chrX:153416186T>C	9936			LOW								--	--	1																																			1,1	1			p.S57S	NM_020061	NP_064445			1,1	OPSR_HUMAN	OPN1LW	HGNC	P04000	OPSR_HUMAN					2	204	+	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		UPI0000113560	57			Helical; Name=1; (Potential).		SNV	OPN1LW,synonymous_variant,p.=,ENST00000369951,NM_020061.4;OPN1LW,upstream_gene_variant,,ENST00000442922,;OPN1LW,non_coding_transcript_exon_variant,,ENST00000463296,;	uc004fjz.3	c.171T>C	231/1261	4	4			c.171T>C						23	SNP	c.(169-171)AGT>AGC	35	35				0	Broad	opsin 1 (cone pigments), long-wave-sensitive			153416186		0.587	ENSG00000102076	10685	g.chrX:153416186T>C	phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity							233.303371	KEEP	36	53	-1	40	38	36	53	-1	235.614443	40	38	0.663265	1	0	0	0	0	0	0	1	0	--	--		0	C				151	GBM-14-3476-TP	p.S57S	T	ACCTCACCAGTGTCTGGATGA	NM_020061	NP_064445	153416186	P04000	OPSR_HUMAN	0			2	204	+	C	C	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		Silent	57			Helical; Name=1; (Potential).			
OPN1SW	611	broad.mit.edu	GRCh37	7	128415497	128415497	+	synonymous_variant	Silent	SNP	T	T	A			TCGA-06-2562-01	TCGA-06-2562-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000249389.2:c.348A>T	p.Val116=	p.V116=	ENST00000249389	NM_001708.2	116	gtA/gtT	0			1			A	V	uc003vnt.3	protein_coding	YES	CCDS5806.1			348/1047										0	c.(346-348)GTA>GTT			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24240:SF16,hmmpanther:PTHR24240,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	opsin 1 (cone pigments), short-wave-sensitive				ENSP00000249389		5-Jan									COSM3411569	5-Jan	.		ENST00000249389	Transcript	1		phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	ENSG00000128617	g.chr7:128415497T>A	1012			LOW								--	--	1																																			1	1			p.V116V	NM_001708	NP_001699			1	OPSB_HUMAN	OPN1SW	HGNC	P03999	OPSB_HUMAN			Q0PJU0_HUMAN		1	348	-			UPI000000014B	116			Helical; Name=3; (Potential).		SNV	OPN1SW,synonymous_variant,p.=,ENST00000249389,NM_001708.2;CALU,downstream_gene_variant,,ENST00000535623,NM_001199671.1;CALU,downstream_gene_variant,,ENST00000542996,NM_001199672.1;CALU,downstream_gene_variant,,ENST00000249364,NM_001219.4;CALU,downstream_gene_variant,,ENST00000535011,NM_001199673.1;CALU,downstream_gene_variant,,ENST00000538546,;CALU,downstream_gene_variant,,ENST00000449187,NM_001130674.2;CALU,downstream_gene_variant,,ENST00000493278,;	uc003vnt.3	c.348A>T	348/1096	2	2			c.348A>T						7	SNP	c.(346-348)GTA>GTT	20	20				0	Broad	opsin 1 (cone pigments), short-wave-sensitive			128415497		0.547	ENSG00000128617	10688	g.chr7:128415497T>A	phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity							67.361605	KEEP	24	21	-1	145	172	24	21	-1	109.966159	145	172	0.134146	1	0	0	0	0	0	0	1	0	--	--		0	A				85	GBM-06-2562-TP	p.V116V	T	CAGTACCTGCTACAGTGCCCA	NM_001708	NP_001699	128415497	P03999	OPSB_HUMAN	0			1	348	-	A	A			Silent	116			Helical; Name=3; (Potential).			
OPN1SW	0	broad.mit.edu	GRCh37	7	128415066	128415066	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-32-4208-01	TCGA-32-4208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000249389.2:c.495C>A	p.Ser165=	p.S165=	ENST00000249389	NM_001708.2	165	tcC/tcA	0			1			T	S	uc003vnt.3	protein_coding	YES	CCDS5806.1			495/1047										0	c.(493-495)TCC>TCA			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24240:SF16,hmmpanther:PTHR24240,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	opsin 1 (cone pigments), short-wave-sensitive				ENSP00000249389		5-Feb									COSM3411568	5-Feb	.		ENST00000249389	Transcript	1		phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	ENSG00000128617	g.chr7:128415066G>T	1012			LOW								--	--	1																																			1	1			p.S165S	NM_001708	NP_001699			1	OPSB_HUMAN	OPN1SW	HGNC	P03999	OPSB_HUMAN			Q0PJU0_HUMAN		2	495	-			UPI000000014B	165			Helical; Name=4; (Potential).		SNV	OPN1SW,synonymous_variant,p.=,ENST00000249389,NM_001708.2;CALU,downstream_gene_variant,,ENST00000535623,NM_001199671.1;CALU,downstream_gene_variant,,ENST00000542996,NM_001199672.1;CALU,downstream_gene_variant,,ENST00000249364,NM_001219.4;CALU,downstream_gene_variant,,ENST00000535011,NM_001199673.1;CALU,downstream_gene_variant,,ENST00000538546,;CALU,downstream_gene_variant,,ENST00000449187,NM_001130674.2;CALU,downstream_gene_variant,,ENST00000493278,;	uc003vnt.3	c.495C>A	495/1096	1	1			c.495C>A						7	SNP	c.(493-495)TCC>TCA	6	6				0	Broad	opsin 1 (cone pigments), short-wave-sensitive			128415066		0.552	ENSG00000128617	10688	g.chr7:128415066G>T	phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity							-11.079041	KEEP	0	4	-1	39	55	0	4	-1	8.069537	39	55	0.045977	1	0	0	0	0	0	0	1	0	--	--		0	T				243	GBM-32-4208-TP	p.S165S	G	AGGGTGGGATGGAGACGCCAA	NM_001708	NP_001699	128415066	P03999	OPSB_HUMAN	0			2	495	-	T	T			Silent	165			Helical; Name=4; (Potential).			
OPN4	0	broad.mit.edu	GRCh37	10	88418396	88418396	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-5299-01	TCGA-12-5299-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000241891.5:c.580G>A	p.Val194Ile	p.V194I	ENST00000241891	NM_033282.3	194	Gtt/Att	0	A:0.0002	A:0	1	A:0.0014		A	V/I	uc001kdq.2	protein_coding		CCDS7376.1			580/1437									ovary(1)	1	c.(580-582)GTT>ATT			Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24240:SF72,hmmpanther:PTHR24240,PROSITE_profiles:PS50262	opsin 4 isoform 1		A:0	A:0	ENSP00000241891	A:0	10-Apr	6.59E-05	0.000577	0.000173						rs368062538,COSM1506007,COSM3397277	10-Apr	common_variant		ENST00000241891	Transcript		A:0.0002	phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity	ENSG00000122375	g.chr10:88418396G>A	14449			MODERATE		1.05	low	getma.org/?cm=msa&ty=f&p=OPN4_HUMAN&rb=87&re=350&var=V194I	getma.org/pdb.php?prot=OPN4_HUMAN&from=87&to=350&var=V194I	getma.org/?cm=var&var=hg19,10,88418396,G,A&fts=all	V194I	--	--	1																																		OPN4_uc001kdp.2_Missense_Mutation_p.V205I|OPN4_uc010qmk.1_Missense_Mutation_p.V205I|OPN4_uc009xsx.1_5'Flank	0,1,1			benign(0.072)	p.V194I	NM_033282	NP_150598	A:0	tolerated(0.11)	0,1,1	OPN4_HUMAN	OPN4	HGNC	Q9UHM6	OPN4_HUMAN					4	807	+			UPI000005047E	194			Helical; Name=4; (Potential).		SNV	OPN4,missense_variant,p.Val205Ile,ENST00000372071,NM_001030015.2;OPN4,missense_variant,p.Val194Ile,ENST00000241891,NM_033282.3;OPN4,missense_variant,p.Val205Ile,ENST00000443292,;	uc001kdq.2	c.580G>A	747/2308	1	1			c.580G>A						10	SNP	c.(580-582)GTT>ATT	64	64			ovary(1)	1	Broad	opsin 4 isoform 1			88418396		0.647	ENSG00000122375	10690	g.chr10:88418396G>A	phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity							215.188099	KEEP	35	40	-1	15	7	35	40	-1	221.894456	15	7	0.795181	1	0	0	0	0	1	0	0	0	--	--		0	A			OPN4_uc001kdp.2_Missense_Mutation_p.V205I|OPN4_uc010qmk.1_Missense_Mutation_p.V205I|OPN4_uc009xsx.1_5'Flank	130	GBM-12-5299-TP	p.V194I	G	CCTGCTGGGCGTTTGGCTCTA	NM_033282	NP_150598	88418396	Q9UHM6	OPN4_HUMAN	0			4	807	+	A	A			Missense_Mutation	194			Helical; Name=4; (Potential).			
OPN4	0	broad.mit.edu	GRCh37	10	88419055	88419055	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T			TCGA-32-2615-01	TCGA-32-2615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000241891.5:c.630C>T	p.Ser210=	p.S210=	ENST00000241891	NM_033282.3	210	agC/agT	0			1			T	S	uc001kdq.2	protein_coding		CCDS7376.1			630/1437									ovary(1)	1	c.(628-630)AGC>AGT			Prints_domain:PR00238,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24240:SF72,hmmpanther:PTHR24240,PROSITE_profiles:PS50262	opsin 4 isoform 1				ENSP00000241891		10-May	4.94E-05		8.66E-05	0.000232		1.52E-05		0.000141	rs750708805,COSM3397278,COSM3397279	10-May	.		ENST00000241891	Transcript			phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity	ENSG00000122375	g.chr10:88419055C>T	14449			LOW								--	--	1																																		OPN4_uc001kdp.2_Silent_p.S221S|OPN4_uc010qmk.1_Silent_p.S221S|OPN4_uc009xsx.1_5'Flank	0,1,1				p.S210S	NM_033282	NP_150598			0,1,1	OPN4_HUMAN	OPN4	HGNC	Q9UHM6	OPN4_HUMAN					5	857	+			UPI000005047E	210			Extracellular (Potential).		SNV	OPN4,splice_region_variant,p.=,ENST00000372071,NM_001030015.2;OPN4,splice_region_variant,p.=,ENST00000241891,NM_033282.3;OPN4,splice_region_variant,p.=,ENST00000443292,;	uc001kdq.2	c.630C>T	797/2308	2	2			c.630C>T						10	SNP	c.(628-630)AGC>AGT	17	17			ovary(1)	1	Broad	opsin 4 isoform 1			88419055		0.622	ENSG00000122375	10690	g.chr10:88419055C>T	phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity							113.558239	KEEP	18	24	-1	9	16	18	24	-1	114.635946	9	16	0.644068	1	0	0	0	0	0	0	1	0	--	--		0	T			OPN4_uc001kdp.2_Silent_p.S221S|OPN4_uc010qmk.1_Silent_p.S221S|OPN4_uc009xsx.1_5'Flank	239	GBM-32-2615-TP	p.S210S	C	GGCTCCCAGGCGCCTACGTGC	NM_033282	NP_150598	88419055	Q9UHM6	OPN4_HUMAN	0			5	857	+	T	T			Silent	210			Extracellular (Potential).			
OPN5	221391	broad.mit.edu	GRCh37	6	47763200	47763200	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0152-01	TCGA-06-0152-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371211.2:c.657C>T	p.Tyr219=	p.Y219=	ENST00000371211	NM_181744.3	219	taC/taT	0	T:0		1			T	Y	uc003ozc.2	protein_coding	YES	CCDS4923.1			657/1065									ovary(1)	1	c.(655-657)TAC>TAT			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24240:SF0,hmmpanther:PTHR24240,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	opsin 5 isoform 1			T:0.0002	ENSP00000360255		7-Apr	9.88E-05		8.64E-05	0.00127					rs375529102,COSM1080024	7-Apr	common_variant		ENST00000371211	Transcript			phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	ENSG00000124818	g.chr6:47763200C>T	19992			LOW								--	--	1																																		OPN5_uc003ozd.2_Silent_p.Y54Y	0,1	1			p.Y219Y	NM_181744	NP_859528			0,1	OPN5_HUMAN	OPN5	HGNC	Q6U736	OPN5_HUMAN					4	662	+			UPI0000223E5B	219			Cytoplasmic (Potential).		SNV	OPN5,synonymous_variant,p.=,ENST00000489301,;OPN5,synonymous_variant,p.=,ENST00000371211,NM_181744.3;OPN5,synonymous_variant,p.=,ENST00000393699,;OPN5,splice_region_variant,,ENST00000510695,;OPN5,non_coding_transcript_exon_variant,,ENST00000244799,;	uc003ozc.2	c.657C>T	685/1801	2	2			c.657C>T						6	SNP	c.(655-657)TAC>TAT	47	47			ovary(1)	1	Broad	opsin 5 isoform 1			47763200		0.512	ENSG00000124818	10691	g.chr6:47763200C>T	phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	Melanoma(28;740 973 10870 42660 45347)			Melanoma(28;740 973 10870 42660 45347)			154.179361	KEEP	35	35	-1	70	70	35	35	-1	159.367747	70	70	0.320442	1	0	0	0	0	0	0	1	0	--	--		0	T			OPN5_uc003ozd.2_Silent_p.Y54Y	25	GBM-06-0152-TP	p.Y219Y	C	TGTTCTCCTACGTAAAGATCA	NM_181744	NP_859528	47763200	Q6U736	OPN5_HUMAN	0			4	662	+	T	T			Silent	219			Cytoplasmic (Potential).			
OPRD1	4985		GRCh37	1	29189500	29189500	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000234961.2:c.824C>T	p.Ala275Val	p.A275V	ENST00000234961	NM_000911.3	275	gCg/gTg	0																																																																																																																																																																																																																																												
OPRK1	4986	broad.mit.edu	GRCh37	8	54163342	54163342	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0211-01	TCGA-06-0211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265572.3:c.256C>T	p.Arg86Ter	p.R86*	ENST00000265572	NM_000912.3	86	Cga/Tga	0			1			A	R/*	uc003xrh.1	protein_coding	YES	CCDS6152.1			256/1143									ovary(1)|skin(1)	2	c.(256-258)CGA>TGA			PROSITE_profiles:PS50262,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF1,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00384	opioid receptor, kappa 1	Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)			ENSP00000265572		4-Feb									COSM2150789	4-Feb	.		ENST00000265572	Transcript			behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	ENSG00000082556	g.chr8:54163342G>A	8154			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,8,54163342,G,A&fts=all	R86*	--	--	1																																		OPRK1_uc003xri.1_Nonsense_Mutation_p.R86*|OPRK1_uc010lyc.1_5'UTR	1	1			p.R86*	NM_000912	NP_000903			1	OPRK_HUMAN	OPRK1	HGNC	P41145	OPRK_HUMAN					1	631	-		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)	UPI000011D794	86			Cytoplasmic (Potential).		SNV	OPRK1,stop_gained,p.Arg86Ter,ENST00000265572,NM_000912.3;OPRK1,stop_gained,p.Arg86Ter,ENST00000520287,;OPRK1,missense_variant,p.Arg86Trp,ENST00000522508,;	uc003xrh.1	c.256C>T	554/5014	5	1			c.256C>T						8	SNP	c.(256-258)CGA>TGA	64	64			ovary(1)|skin(1)	2	Broad	opioid receptor, kappa 1		Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	54163342		0.687	ENSG00000082556	10693	g.chr8:54163342G>A	behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding							83.750276	KEEP	9	19	-1	16	15	9	19	-1	83.75431	16	15	0.490566	1	0	0	0	0	0	1	0	0	--	--		0	A			OPRK1_uc003xri.1_Nonsense_Mutation_p.R86*|OPRK1_uc010lyc.1_5'UTR	48	GBM-06-0211-TP	p.R86*	G	CGCGCTCACCGGATGATCACG	NM_000912	NP_000903	54163342	P41145	OPRK_HUMAN	0			1	631	-	A	A		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)	Nonsense_Mutation	86			Cytoplasmic (Potential).			
OPRM1	4988	broad.mit.edu	GRCh37	6	154412347	154412347	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000434900.2:c.1183G>A	p.Val395Ile	p.V395I	ENST00000434900	NM_001145279.2	395	Gtc/Atc	0	A:0.0002	A:0	1	A:0		A	V/I	uc003qpr.2	protein_coding		CCDS55070.1			904/1203									ovary(1)	1	c.(904-906)GTC>ATC			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24229:SF7,hmmpanther:PTHR24229,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	opioid receptor, mu 1 isoform MOR-1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	A:0	A:0	ENSP00000328264	A:0	4-Mar	9.89E-05	0.000102		0.00116		1.50E-05			rs187512719,COSM3410716,COSM3410717,COSM3982129,COSM3982128,COSM3410715,COSM3982130	4-Mar	common_variant		ENST00000330432	Transcript		A:0.0000	behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	ENSG00000112038	g.chr6:154412347G>A	8156			MODERATE		0.59	neutral	getma.org/?cm=msa&ty=f&p=OPRM_HUMAN&rb=87&re=338&var=V302I	getma.org/pdb.php?prot=OPRM_HUMAN&from=87&to=338&var=V302I	getma.org/?cm=var&var=hg19,6,154412347,G,A&fts=all	V302I	--	--	1																																		OPRM1_uc011efc.1_Missense_Mutation_p.V221I|OPRM1_uc011efd.1_Missense_Mutation_p.V202I|OPRM1_uc011efe.1_Missense_Mutation_p.V395I|OPRM1_uc003qpn.2_Missense_Mutation_p.V302I|OPRM1_uc003qpo.1_Missense_Mutation_p.V302I|OPRM1_uc011eff.1_Missense_Mutation_p.V302I|OPRM1_uc011efg.1_Missense_Mutation_p.V302I|OPRM1_uc011efh.1_Missense_Mutation_p.V302I|OPRM1_uc003qpq.1_Missense_Mutation_p.V302I|OPRM1_uc003qpt.1_Missense_Mutation_p.V302I|OPRM1_uc011efi.1_Missense_Mutation_p.V302I|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA|OPRM1_uc010kjg.2_Missense_Mutation_p.V202I|OPRM1_uc003qpu.2_Missense_Mutation_p.V202I	0,1,1,1,1,1,1			probably_damaging(0.999)	p.V302I	NM_000914	NP_000905	A:0	tolerated(0.5)	0,1,1,1,1,1,1	OPRM_HUMAN	OPRM1	HGNC	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Q7Z6A5_HUMAN,Q71V90_HUMAN,C9EA00_HUMAN,C9E9Z9_HUMAN,C7E9I8_HUMAN,B8K2Q5_HUMAN		3	1141	+		Ovarian(120;0.196)	UPI0000130D9C	302			Helical; Name=6; (Potential).		SNV	OPRM1,missense_variant,p.Val302Ile,ENST00000414028,NM_001145284.2;OPRM1,missense_variant,p.Val202Ile,ENST00000522236,NM_001145287.1;OPRM1,missense_variant,p.Val202Ile,ENST00000522555,NM_001285526.1;OPRM1,missense_variant,p.Val302Ile,ENST00000435918,NM_001145283.1;OPRM1,missense_variant,p.Val302Ile,ENST00000330432,NM_000914.3,NM_001285524.1;OPRM1,missense_variant,p.Val395Ile,ENST00000434900,NM_001145279.2;OPRM1,missense_variant,p.Val202Ile,ENST00000520708,;OPRM1,missense_variant,p.Val302Ile,ENST00000428397,NM_001008504.2;OPRM1,missense_variant,p.Val302Ile,ENST00000229768,NM_001008505.1;OPRM1,missense_variant,p.Val302Ile,ENST00000360422,NM_001285523.1;OPRM1,missense_variant,p.Val302Ile,ENST00000419506,NM_001145286.1;OPRM1,missense_variant,p.Val302Ile,ENST00000337049,NM_001008503.1;OPRM1,missense_variant,p.Val302Ile,ENST00000452687,NM_001145282.1;OPRM1,missense_variant,p.Val302Ile,ENST00000524163,NM_001145285.1;OPRM1,missense_variant,p.Val221Ile,ENST00000518759,NM_001145281.2;OPRM1,downstream_gene_variant,,ENST00000520282,;OPRM1,non_coding_transcript_exon_variant,,ENST00000522382,;OPRM1,non_coding_transcript_exon_variant,,ENST00000519613,;OPRM1,non_coding_transcript_exon_variant,,ENST00000521106,;OPRM1,missense_variant,p.Val302Ile,ENST00000519083,;OPRM1,missense_variant,p.Val302Ile,ENST00000522739,;OPRM1,missense_variant,p.Arg184His,ENST00000524150,;	uc003qpr.2	c.904G>A	1141/2178	2	2			c.904G>A						6	SNP	c.(904-906)GTC>ATC	33	33			ovary(1)	1	Broad	opioid receptor, mu 1 isoform MOR-1		Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	154412347		0.483	ENSG00000112038	10695	g.chr6:154412347G>A	behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding							16.209716	KEEP	8	5	-1	43	55	8	5	-1	30.493079	43	55	0.125	1	0	0	0	0	1	0	0	0	--	--		0	A			OPRM1_uc011efc.1_Missense_Mutation_p.V221I|OPRM1_uc011efd.1_Missense_Mutation_p.V202I|OPRM1_uc011efe.1_Missense_Mutation_p.V395I|OPRM1_uc003qpn.2_Missense_Mutation_p.V302I|OPRM1_uc003qpo.1_Missense_Mutation_p.V302I|OPRM1_uc011eff.1_Missense_Mutation_p.V302I|OPRM1_uc011efg.1_Missense_Mutation_p.V302I|OPRM1_uc011efh.1_Missense_Mutation_p.V302I|OPRM1_uc003qpq.1_Missense_Mutation_p.V302I|OPRM1_uc003qpt.1_Missense_Mutation_p.V302I|OPRM1_uc011efi.1_Missense_Mutation_p.V302I|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA|OPRM1_uc010kjg.2_Missense_Mutation_p.V202I|OPRM1_uc003qpu.2_Missense_Mutation_p.V202I	46	GBM-06-0209-TP	p.V302I	G	TCACATTTACGTCATCATTAA	NM_000914	NP_000905	154412347	P35372	OPRM_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	3	1141	+	A	A		Ovarian(120;0.196)	Missense_Mutation	302			Helical; Name=6; (Potential).			
OPRM1	0	broad.mit.edu	GRCh37	6	154412222	154412222	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1799974		TCGA-28-2513-01	TCGA-28-2513-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330432.7:c.779G>A	p.Arg260His	p.R260H	ENST00000330432	NM_000914.3	260	cGc/cAc	0	A:0.0011	A:0	1	A:0.0014		A	R/H	uc003qpr.2	protein_coding		CCDS55070.1			779/1203									ovary(1)	1	c.(778-780)CGC>CAC			PROSITE_profiles:PS50262,hmmpanther:PTHR24229:SF7,hmmpanther:PTHR24229,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	opioid receptor, mu 1 isoform MOR-1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	A:0	A:0.0008	ENSP00000328264	A:0	4-Mar	0.000635	0.00051	0.000779		0.000302	0.000479	0.00111	0.00157	rs1799974,COSM289224,COSM289225,COSM3748320,COSM289226,COSM3748321	4-Mar	common_variant		ENST00000330432	Transcript		A:0.0006	behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	ENSG00000112038	g.chr6:154412222G>A	8156			MODERATE		2.18	medium	getma.org/?cm=msa&ty=f&p=OPRM_HUMAN&rb=87&re=338&var=R260H	getma.org/pdb.php?prot=OPRM_HUMAN&from=87&to=338&var=R260H	getma.org/?cm=var&var=hg19,6,154412222,G,A&fts=all	R260H	--	--	1																																		OPRM1_uc011efc.1_Missense_Mutation_p.R179H|OPRM1_uc011efd.1_Missense_Mutation_p.R160H|OPRM1_uc011efe.1_Missense_Mutation_p.R353H|OPRM1_uc003qpn.2_Missense_Mutation_p.R260H|OPRM1_uc003qpo.1_Missense_Mutation_p.R260H|OPRM1_uc011eff.1_Missense_Mutation_p.R260H|OPRM1_uc011efg.1_Missense_Mutation_p.R260H|OPRM1_uc011efh.1_Missense_Mutation_p.R260H|OPRM1_uc003qpq.1_Missense_Mutation_p.R260H|OPRM1_uc003qpt.1_Missense_Mutation_p.R260H|OPRM1_uc011efi.1_Missense_Mutation_p.R260H|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA|OPRM1_uc010kjg.2_Missense_Mutation_p.R160H|OPRM1_uc003qpu.2_Missense_Mutation_p.R160H	0,1,1,1,1,1		21070507	probably_damaging(1)	p.R260H	NM_000914	NP_000905	A:0.002	deleterious(0)	0,1,1,1,1,1	OPRM_HUMAN	OPRM1	HGNC	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Q7Z6A5_HUMAN,Q71V90_HUMAN,C9EA00_HUMAN,C9E9Z9_HUMAN,C7E9I8_HUMAN,B8K2Q5_HUMAN		3	1016	+		Ovarian(120;0.196)	UPI0000130D9C	260			Cytoplasmic (Potential).		SNV	OPRM1,missense_variant,p.Arg260His,ENST00000414028,NM_001145284.2;OPRM1,missense_variant,p.Arg160His,ENST00000522236,NM_001145287.1;OPRM1,missense_variant,p.Arg160His,ENST00000522555,NM_001285526.1;OPRM1,missense_variant,p.Arg260His,ENST00000435918,NM_001145283.1;OPRM1,missense_variant,p.Arg260His,ENST00000330432,NM_000914.3,NM_001285524.1;OPRM1,missense_variant,p.Arg353His,ENST00000434900,NM_001145279.2;OPRM1,missense_variant,p.Arg160His,ENST00000520708,;OPRM1,missense_variant,p.Arg260His,ENST00000428397,NM_001008504.2;OPRM1,missense_variant,p.Arg260His,ENST00000229768,NM_001008505.1;OPRM1,missense_variant,p.Arg260His,ENST00000360422,NM_001285523.1;OPRM1,missense_variant,p.Arg260His,ENST00000419506,NM_001145286.1;OPRM1,missense_variant,p.Arg260His,ENST00000337049,NM_001008503.1;OPRM1,missense_variant,p.Arg260His,ENST00000452687,NM_001145282.1;OPRM1,missense_variant,p.Arg260His,ENST00000524163,NM_001145285.1;OPRM1,missense_variant,p.Arg179His,ENST00000518759,NM_001145281.2;OPRM1,downstream_gene_variant,,ENST00000520282,;OPRM1,non_coding_transcript_exon_variant,,ENST00000522382,;OPRM1,non_coding_transcript_exon_variant,,ENST00000519613,;OPRM1,non_coding_transcript_exon_variant,,ENST00000521106,;OPRM1,missense_variant,p.Arg260His,ENST00000519083,;OPRM1,missense_variant,p.Arg260His,ENST00000522739,;OPRM1,synonymous_variant,p.=,ENST00000524150,;	uc003qpr.2	c.779G>A	1016/2178	1	1			c.779G>A						6	SNP	c.(778-780)CGC>CAC	56	56			ovary(1)	1	Broad	opioid receptor, mu 1 isoform MOR-1		Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	154412222		0.502	ENSG00000112038	10695	g.chr6:154412222G>A	behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding							53.94464	KEEP	17	18	-1	103	92	17	18	-1	78.861483	103	92	0.152778	1	0	0	0	0	1	0	0	0	--	--		0	A			OPRM1_uc011efc.1_Missense_Mutation_p.R179H|OPRM1_uc011efd.1_Missense_Mutation_p.R160H|OPRM1_uc011efe.1_Missense_Mutation_p.R353H|OPRM1_uc003qpn.2_Missense_Mutation_p.R260H|OPRM1_uc003qpo.1_Missense_Mutation_p.R260H|OPRM1_uc011eff.1_Missense_Mutation_p.R260H|OPRM1_uc011efg.1_Missense_Mutation_p.R260H|OPRM1_uc011efh.1_Missense_Mutation_p.R260H|OPRM1_uc003qpq.1_Missense_Mutation_p.R260H|OPRM1_uc003qpt.1_Missense_Mutation_p.R260H|OPRM1_uc011efi.1_Missense_Mutation_p.R260H|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA|OPRM1_uc010kjg.2_Missense_Mutation_p.R160H|OPRM1_uc003qpu.2_Missense_Mutation_p.R160H	213	GBM-28-2513-TP	p.R260H	G	ATGATCTTGCGCCTCAAGAGT	NM_000914	NP_000905	154412222	P35372	OPRM_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	3	1016	+	A	A		Ovarian(120;0.196)	Missense_Mutation	260			Cytoplasmic (Potential).			
OPTC	0	broad.mit.edu	GRCh37	1	203466194	203466194	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367222.2:c.321G>C	p.Met107Ile	p.M107I	ENST00000367222	NM_014359.3	107	atG/atC	0			1			C	M/I	uc001gzu.1	protein_coding	YES	CCDS1439.1			321/999										0	c.(319-321)ATG>ATC			hmmpanther:PTHR24370	opticin precursor				ENSP00000356191		8-Mar									COSM3400220	8-Mar	.		ENST00000367222	Transcript				proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	ENSG00000188770	g.chr1:203466194G>C	8158			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=OPT_HUMAN&rb=1&re=152&var=M107I	NA	getma.org/?cm=var&var=hg19,1,203466194,G,C&fts=all	M107I	--	--	1																																			1	1		benign(0.007)	p.M107I	NM_014359	NP_055174		tolerated(0.31)	1	OPT_HUMAN	OPTC	HGNC	Q9UBM4	OPT_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)				3	437	+			UPI00000015D9	107			Ser/Thr-rich.		SNV	OPTC,missense_variant,p.Met107Ile,ENST00000367222,NM_014359.3;OPTC,missense_variant,p.Met107Ile,ENST00000448911,;	uc001gzu.1	c.321G>C	437/1359	4	4			c.321G>C						1	SNP	c.(319-321)ATG>ATC	37	37				0	Broad	opticin precursor			203466194		0.562	ENSG00000188770	10696	g.chr1:203466194G>C		proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding							-5.095268	KEEP	2	0	-1	23	30	2	0	-1	6.3078	23	30	0.04	1	0	0	0	0	1	0	0	0	--	--		0	C				235	GBM-32-2491-TP	p.M107I	G	ACCCCACGATGACCAGACCTA	NM_014359	NP_055174	203466194	Q9UBM4	OPT_HUMAN	0	BRCA - Breast invasive adenocarcinoma(75;0.109)		3	437	+	C	C			Missense_Mutation	107			Ser/Thr-rich.			
OPTC	26254		GRCh37	1	203472741	203472741	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000367222.2:c.892C>T	p.Arg298Cys	p.R298C	ENST00000367222	NM_014359.3	298	Cgc/Tgc	0																																																																																																																																																																																																																																												
OPTN	10133		GRCh37	10	13174131	13174131	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000378748.3:c.1466A>G	p.Lys489Arg	p.K489R	ENST00000378748	NM_001008211.1	489	aAg/aGg	0																																																																																																																																																																																																																																												
OR10A3	26496	broad.mit.edu	GRCh37	11	7960190	7960190	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs146552050		TCGA-06-0168-01	TCGA-06-0168-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360759.3:c.878G>A	p.Arg293Gln	p.R293Q	ENST00000360759	NM_001003745.1	293	cGa/cAa	0	T:0.0002	T:0	1	T:0		T	R/Q	uc010rbi.1	protein_coding	YES	CCDS31421.1			878/945									pancreas(1)	1	c.(877-879)CGA>CAA			Gene3D:1.20.1070.10,Prints_domain:PR00237,Prints_domain:PR00245,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF30,Superfamily_domains:SSF81321	olfactory receptor, family 10, subfamily A,		T:0.001	T:0.0001	ENSP00000353988	T:0	1-Jan	6.59E-05	0.000288				7.50E-05			rs146552050,COSM2150243	1-Jan	.		ENST00000360759	Transcript		T:0.0002	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000170683	g.chr11:7960190C>T	8162			MODERATE		2.16	medium	getma.org/?cm=msa&ty=f&p=O10A3_HUMAN&rb=284&re=314&var=R293Q	NA	getma.org/?cm=var&var=hg19,11,7960190,C,T&fts=all	R293Q	--	--	1																																			0,1	1		benign(0.087)	p.R293Q	NM_001003745	NP_001003745	T:0	deleterious(0)	0,1	O10A3_HUMAN	OR10A3	HGNC	P58181	O10A3_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)			1	878	-			UPI00000015AD	293			Cytoplasmic (Potential).		SNV	OR10A3,missense_variant,p.Arg293Gln,ENST00000360759,NM_001003745.1;	uc010rbi.1	c.878G>A	952/1061	2	2			c.878G>A						11	SNP	c.(877-879)CGA>CAA	22	22			pancreas(1)	1	Broad	olfactory receptor, family 10, subfamily A,			7960190		0.418	ENSG00000170683	10699	g.chr11:7960190C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							81.13902	KEEP	14	23	-1	71	52	14	23	-1	89.301519	71	52	0.240602	1	0	0	0	0	1	0	0	0	--	--		0	T				33	GBM-06-0168-TP	p.R293Q	C	CTCACTGTTTCGTAAGCTATA	NM_001003745	NP_001003745	7960190	P58181	O10A3_HUMAN	0		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	878	-	T	T			Missense_Mutation	293			Cytoplasmic (Potential).			
OR10A3	0	broad.mit.edu	GRCh37	11	7960683	7960683	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01	TCGA-74-6573-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360759.3:c.385C>T	p.Pro129Ser	p.P129S	ENST00000360759	NM_001003745.1	129	Cct/Tct	0			1			A	P/S	uc010rbi.1	protein_coding	YES	CCDS31421.1			385/945									pancreas(1)	1	c.(385-387)CCT>TCT			Gene3D:1.20.1070.10,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF30,Superfamily_domains:SSF81321	olfactory receptor, family 10, subfamily A,				ENSP00000353988		1-Jan									COSM3398163	1-Jan	.		ENST00000360759	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000170683	g.chr11:7960683G>A	8162			MODERATE		3.81	high	getma.org/?cm=msa&ty=f&p=O10A3_HUMAN&rb=1&re=138&var=P129S	getma.org/pdb.php?prot=O10A3_HUMAN&from=1&to=138&var=P129S	getma.org/?cm=var&var=hg19,11,7960683,G,A&fts=all	P129S	--	--	1																																			1	1		probably_damaging(1)	p.P129S	NM_001003745	NP_001003745		deleterious(0)	1	O10A3_HUMAN	OR10A3	HGNC	P58181	O10A3_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)			1	385	-			UPI00000015AD	129			Cytoplasmic (Potential).		SNV	OR10A3,missense_variant,p.Pro129Ser,ENST00000360759,NM_001003745.1;	uc010rbi.1	c.385C>T	459/1061	2	2			c.385C>T						11	SNP	c.(385-387)CCT>TCT	29	29			pancreas(1)	1	Broad	olfactory receptor, family 10, subfamily A,			7960683		0.438	ENSG00000170683	10699	g.chr11:7960683G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							69.912986	KEEP	15	12	-1	28	19	15	12	-1	70.976455	28	19	0.367647	1	0	0	0	0	1	0	0	0	--	--		0	A				260	GBM-74-6573-TP	p.P129S	G	TAGTTCAGAGGATGGCAAATT	NM_001003745	NP_001003745	7960683	P58181	O10A3_HUMAN	0		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	385	-	A	A			Missense_Mutation	129			Cytoplasmic (Potential).			
OR10A3	26496		GRCh37	11	7960995	7960995	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000360759.3:c.73G>A	p.Val25Met	p.V25M	ENST00000360759	NM_001003745.1	25	Gtg/Atg	0																																																																																																																																																																																																																																												
OR10A6	390093	broad.mit.edu	GRCh37	11	7949484	7949484	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309838.2:c.726C>T	p.Ala242=	p.A242=	ENST00000309838	NM_001004461.1	242	gcC/gcT	0	A:0	A:0	1	A:0		A	A	uc010rbh.1	protein_coding	YES	CCDS31420.1			726/945									ovary(1)|skin(1)	2	c.(724-726)GCC>GCT			Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF30,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 10, subfamily A,		A:0	A:0.0001	ENSP00000312470	A:0	1-Jan	9.06E-05					6.00E-05		0.000424	rs374708960,COSM2150432	1-Jan	common_variant		ENST00000309838	Transcript		A:0.0004	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000175393	g.chr11:7949484G>A	15132			LOW								--	--	1																																			0,1	1			p.A242A	NM_001004461	NP_001004461	A:0.002		0,1	O10A6_HUMAN	OR10A6	HGNC	Q8NH74	O10A6_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)			1	726	-			UPI0000041DF4	242			Helical; Name=6; (Potential).		SNV	OR10A6,synonymous_variant,p.=,ENST00000309838,NM_001004461.1;	uc010rbh.1	c.726C>T	726/1030	2	2			c.726C>T						11	SNP	c.(724-726)GCC>GCT	34	34			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 10, subfamily A,			7949484		0.453	ENSG00000175393	10702	g.chr11:7949484G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							133.504536	KEEP	25	18	-1	20	21	25	18	-1	133.515868	20	21	0.512821	1	0	0	0	0	0	0	1	0	--	--		0	A				39	GBM-06-0184-TP	p.A242A	G	TGAGGTGAGCGGCACAGGTGG	NM_001004461	NP_001004461	7949484	Q8NH74	O10A6_HUMAN	0		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	726	-	A	A			Silent	242			Helical; Name=6; (Potential).			
OR10A6	0	broad.mit.edu	GRCh37	11	7949483	7949483	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309838.2:c.727G>A	p.Ala243Thr	p.A243T	ENST00000309838	NM_001004461.1	243	Gct/Act	0			1			T	A/T	uc010rbh.1	protein_coding	YES	CCDS31420.1			727/945									ovary(1)|skin(1)	2	c.(727-729)GCT>ACT			Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF30,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 10, subfamily A,				ENSP00000312470		1-Jan									COSM932434	1-Jan	.		ENST00000309838	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000175393	g.chr11:7949483C>T	15132			MODERATE		1.685	low	getma.org/?cm=msa&ty=f&p=O10A6_HUMAN&rb=140&re=283&var=A243T	NA	getma.org/?cm=var&var=hg19,11,7949483,C,T&fts=all	A243T	--	--	1																																			1	1		benign(0.005)	p.A243T	NM_001004461	NP_001004461		deleterious(0)	1	O10A6_HUMAN	OR10A6	HGNC	Q8NH74	O10A6_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)			1	727	-			UPI0000041DF4	243			Helical; Name=6; (Potential).		SNV	OR10A6,missense_variant,p.Ala243Thr,ENST00000309838,NM_001004461.1;	uc010rbh.1	c.727G>A	727/1030	1	1			c.727G>A						11	SNP	c.(727-729)GCT>ACT	3	3			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 10, subfamily A,			7949483		0.453	ENSG00000175393	10702	g.chr11:7949483C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							110.372987	KEEP	17	24	-1	24	32	17	24	-1	110.956475	24	32	0.416667	1	0	0	0	0	1	0	0	0	--	--		0	T				129	GBM-12-5295-TP	p.A243T	C	GTGAGGTGAGCGGCACAGGTG	NM_001004461	NP_001004461	7949483	Q8NH74	O10A6_HUMAN	0		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	727	-	T	T			Missense_Mutation	243			Helical; Name=6; (Potential).			
OR10AG1	0	broad.mit.edu	GRCh37	11	55735807	55735807	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs139897319	byFrequency	TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312345.2:c.133G>A	p.Ala45Thr	p.A45T	ENST00000312345	NM_001005491.1	45	Gct/Act	0	T:0.0064	T:0.0061	1	T:0		T	A/T	uc010rit.1	protein_coding	YES	CCDS31514.1			133/906									skin(2)	2	c.(133-135)GCT>ACT			Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF159,Superfamily_domains:SSF81321	olfactory receptor, family 10, subfamily AG,		T:0	T:0	ENSP00000311477	T:0	1-Jan	0.00061	0.00659	0.000173	0.000116	0.000454	6.07E-05			rs139897319,COSM3397817	1-Jan	common_variant		ENST00000312345	Transcript		T:0.0016	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000174970	g.chr11:55735807C>T	19607			MODERATE		0.195	neutral	getma.org/?cm=msa&ty=f&p=O10AG_HUMAN&rb=1&re=129&var=A45T	NA	getma.org/?cm=var&var=hg19,11,55735807,C,T&fts=all	A45T	--	--	1																																			0,1	1		benign(0.028)	p.A45T	NM_001005491	NP_001005491	T:0	tolerated(0.37)	0,1	O10AG_HUMAN	OR10AG1	HGNC	Q8NH19	O10AG_HUMAN					1	133	-	Esophageal squamous(21;0.0137)		UPI000004B22B	45			Cytoplasmic (Potential).		SNV	OR10AG1,missense_variant,p.Ala45Thr,ENST00000312345,NM_001005491.1;	uc010rit.1	c.133G>A	184/1016	2	2			c.133G>A						11	SNP	c.(133-135)GCT>ACT	28	28			skin(2)	2	Broad	olfactory receptor, family 10, subfamily AG,			55735807		0.348	ENSG00000174970	10705	g.chr11:55735807C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							34.425119	KEEP	20	14	-1	127	155	20	14	-1	72.770963	127	155	0.118959	1	0	0	0	0	1	0	0	0	--	--		0	T				229	GBM-32-1977-TP	p.A45T	C	GTCTGGAGAGCGGGGTGAATT	NM_001005491	NP_001005491	55735807	Q8NH19	O10AG_HUMAN	0			1	133	-	T	T	Esophageal squamous(21;0.0137)		Missense_Mutation	45			Cytoplasmic (Potential).			
OR10AG1	282770		GRCh37	11	55735664	55735664	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000312345.2:c.276G>A	p.Met92Ile	p.M92I	ENST00000312345	NM_001005491.1	92	atG/atA	0																																																																																																																																																																																																																																												
OR10C1	442194	broad.mit.edu	GRCh37	6	29408233	29408233	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0173-01	TCGA-06-0173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000444197.2:c.441G>A	p.Ala147=	p.A147=	ENST00000444197	NM_013941.3	147	gcG/gcA	0			1			A	A	uc011dlp.1	protein_coding	YES	CCDS34364.1			441/939										0	c.(439-441)GCG>GCA			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF191,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 10, subfamily C,				ENSP00000419119		1-Jan									COSM2150355	1-Jan	.		ENST00000444197	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000206474	g.chr6:29408233G>A	8165			LOW								--	--	1																																		OR11A1_uc010jrh.1_Intron	1	1			p.A147A	NM_013941	NP_039229			1	O10C1_HUMAN	OR10C1	HGNC	Q96KK4	O10C1_HUMAN					1	441	+			UPI000014068E	147			Helical; Name=4; (Potential).		SNV	OR10C1,synonymous_variant,p.=,ENST00000444197,NM_013941.3;OR11A1,intron_variant,,ENST00000377149,;	uc011dlp.1	c.441G>A	1151/1649	2	2			c.441G>A						6	SNP	c.(439-441)GCG>GCA	47	47				0	Broad	olfactory receptor, family 10, subfamily C,			29408233		0.622	ENSG00000206474	10706	g.chr6:29408233G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							184.998292	KEEP	44	29	-1	58	42	44	29	-1	186.159154	58	42	0.407643	1	0	0	0	0	0	0	1	0	--	--		0	A			OR11A1_uc010jrh.1_Intron	36	GBM-06-0173-TP	p.A147A	G	CTGGGTCGGCGTGGGCCTGTG	NM_013941	NP_039229	29408233	Q96KK4	O10C1_HUMAN	0			1	441	+	A	A			Silent	147			Helical; Name=4; (Potential).			
OR10C1	0	broad.mit.edu	GRCh37	6	29408448	29408448	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs74711365		TCGA-32-5222-01	TCGA-32-5222-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000444197.2:c.656G>T	p.Arg219Leu	p.R219L	ENST00000444197	NM_013941.3	219	cGt/cTt	0			1			T	R/L	uc011dlp.1	protein_coding	YES	CCDS34364.1			656/939										0	c.(655-657)CGT>CTT			PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF191,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 10, subfamily C,				ENSP00000419119		1-Jan									COSM3748323	1-Jan	.		ENST00000444197	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000206474	g.chr6:29408448G>T	8165			MODERATE		1.205	low	getma.org/?cm=msa&ty=f&p=O10C1_HUMAN&rb=138&re=282&var=R219L	NA	getma.org/?cm=var&var=hg19,6,29408448,G,T&fts=all	R219L	--	--	1																																		OR11A1_uc010jrh.1_Intron	1	1		benign(0.095)	p.R219L	NM_013941	NP_039229		tolerated(0.34)	1	O10C1_HUMAN	OR10C1	HGNC	Q96KK4	O10C1_HUMAN					1	656	+			UPI000014068E	219			Cytoplasmic (Potential).		SNV	OR10C1,missense_variant,p.Arg219Leu,ENST00000444197,NM_013941.3;OR11A1,intron_variant,,ENST00000377149,;	uc011dlp.1	c.656G>T	1366/1649	1	1			c.656G>T						6	SNP	c.(655-657)CGT>CTT	4	4				0	Broad	olfactory receptor, family 10, subfamily C,			29408448		0.582	ENSG00000206474	10706	g.chr6:29408448G>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							592.246785	KEEP	98	106	0.480392157	170	179	98	106	0.480392157	600.091626	170	179	0.367387	1	0	0	0	0	1	0	0	0	--	--		0	T			OR11A1_uc010jrh.1_Intron	249	GBM-32-5222-TP	p.R219L	G	TCCTACGGGCGTATCCTCGTT	NM_013941	NP_039229	29408448	Q96KK4	O10C1_HUMAN	0			1	656	+	T	T			Missense_Mutation	219			Cytoplasmic (Potential).			
OR10C1	442194		GRCh37	6	29408603	29408603	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000444197.2:c.811C>A	p.Pro271Thr	p.P271T	ENST00000444197	NM_013941.3	271	Cct/Act	0																																																																																																																																																																																																																																												
OR10G2	0	broad.mit.edu	GRCh37	14	22102746	22102746	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs141025992	byFrequency	TCGA-12-0619-01	TCGA-12-0619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000542433.1:c.253C>T	p.Arg85Trp	p.R85W	ENST00000542433	NM_001005466.1	85	Cgg/Tgg	0	A:0.002	A:0.0015	1	A:0		A	R/W	uc010tmc.1	protein_coding	YES	CCDS32047.1			253/933									skin(1)	1	c.(253-255)CGG>TGG			Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF88,hmmpanther:PTHR26453,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	olfactory receptor, family 10, subfamily G,		A:0	A:0	ENSP00000445383	A:0	1-Jan	0.000239	0.00202	0.000519			1.50E-05	0.0011		rs141025992,COSM2153665	1-Jan	common_variant		ENST00000542433	Transcript		A:0.0004	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000255582	g.chr14:22102746G>A	8170			MODERATE		2.52	medium	getma.org/?cm=msa&ty=f&p=O10G2_HUMAN&rb=1&re=143&var=R85W	NA	getma.org/?cm=var&var=hg19,14,22102746,G,A&fts=all	R85W	--	--	1																																			0,1	1		possibly_damaging(0.816)	p.R85W	NM_001005466	NP_001005466	A:0	deleterious(0)	0,1	O10G2_HUMAN	OR10G2	HGNC	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)			1	253	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	UPI0000041E5C	85			Extracellular (Potential).		SNV	OR10G2,missense_variant,p.Arg85Trp,ENST00000542433,NM_001005466.1;	uc010tmc.1	c.253C>T	351/1105	1	1			c.253C>T						14	SNP	c.(253-255)CGG>TGG	50	50			skin(1)	1	Broad	olfactory receptor, family 10, subfamily G,			22102746		0.527	ENSG00000255582	10707	g.chr14:22102746G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							131.569441	KEEP	23	22	-1	20	33	23	22	-1	131.688889	20	33	0.460674	1	0	0	0	0	1	0	0	0	--	--		0	A				120	GBM-12-0619-TP	p.R85W	G	AAAATAAGCCGAGGAACGGTG	NM_001005466	NP_001005466	22102746	Q8NGC3	O10G2_HUMAN	0		GBM - Glioblastoma multiforme(265;0.0142)	1	253	-	A	A	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	Missense_Mutation	85			Extracellular (Potential).			
OR10G2	0	broad.mit.edu	GRCh37	14	22102705	22102705	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-1834-01	TCGA-27-1834-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000542433.1:c.294G>A	p.Pro98=	p.P98=	ENST00000542433	NM_001005466.1	98	ccG/ccA	0			1			T	P	uc010tmc.1	protein_coding	YES	CCDS32047.1			294/933									skin(1)	1	c.(292-294)CCG>CCA			Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF88,hmmpanther:PTHR26453,PROSITE_profiles:PS50262	olfactory receptor, family 10, subfamily G,				ENSP00000445383		1-Jan	2.47E-05					4.51E-05			rs749275776,COSM3401231	1-Jan	.		ENST00000542433	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000255582	g.chr14:22102705C>T	8170			LOW								--	--	1																																			0,1	1			p.P98P	NM_001005466	NP_001005466			0,1	O10G2_HUMAN	OR10G2	HGNC	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)			1	294	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	UPI0000041E5C	98			Extracellular (Potential).		SNV	OR10G2,synonymous_variant,p.=,ENST00000542433,NM_001005466.1;	uc010tmc.1	c.294G>A	392/1105	2	2			c.294G>A						14	SNP	c.(292-294)CCG>CCA	26	26			skin(1)	1	Broad	olfactory receptor, family 10, subfamily G,			22102705		0.493	ENSG00000255582	10707	g.chr14:22102705C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							87.902299	KEEP	12	18	-1	12	14	12	18	-1	88.008707	12	14	0.54902	1	0	0	0	0	0	0	1	0	--	--		0	T				193	GBM-27-1834-TP	p.P98P	C	AGCCACCAAACGGGATAGCCT	NM_001005466	NP_001005466	22102705	Q8NGC3	O10G2_HUMAN	0		GBM - Glioblastoma multiforme(265;0.0142)	1	294	-	T	T	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	Silent	98			Extracellular (Potential).			
OR10G7	390265	broad.mit.edu	GRCh37	11	123908977	123908977	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0744-01	TCGA-06-0744-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330487.5:c.732T>C	p.Cys244=	p.C244=	ENST00000330487	NM_001004463.1	244	tgT/tgC	0		G:0	1	G:0.0014		G	C	uc001pzq.1	protein_coding	YES	CCDS31705.1			732/936									ovary(2)	2	c.(730-732)TGT>TGC			Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF7,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 10, subfamily G,		G:0.001		ENSP00000329689	G:0	1-Jan	0.000124	9.61E-05	0.000173	0.000116		0.000135		0.000121	rs188316662,COSM3397510	1-Jan	.		ENST00000330487	Transcript		G:0.0004	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000182634	g.chr11:123908977A>G	14842			LOW								--	--	1																																			0,1	1			p.C244C	NM_001004463	NP_001004463	G:0		0,1	O10G7_HUMAN	OR10G7	HGNC	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)			1	732	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	UPI0000040A84	244			Helical; Name=6; (Potential).		SNV	OR10G7,synonymous_variant,p.=,ENST00000330487,NM_001004463.1;	uc001pzq.1	c.732T>C	741/945	4	4			c.732T>C						11	SNP	c.(730-732)TGT>TGC	26	26			ovary(2)	2	Broad	olfactory receptor, family 10, subfamily G,			123908977		0.567	ENSG00000182634	10710	g.chr11:123908977A>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-31.701063	KEEP	1	4	-1	63	120	1	4	-1	7.047136	63	120	0.02	1	0	0	0	0	0	0	1	0	--	--		0	G				66	GBM-06-0744-TP	p.C244C	A	GGACCACGATACAGTGGGAGG	NM_001004463	NP_001004463	123908977	Q8NGN6	O10G7_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	732	-	G	G		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	Silent	244			Helical; Name=6; (Potential).			
OR10G7	0	broad.mit.edu	GRCh37	11	123909464	123909464	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1835-01	TCGA-27-1835-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330487.5:c.245C>T	p.Thr82Ile	p.T82I	ENST00000330487	NM_001004463.1	82	aCc/aTc	0			1			A	T/I	uc001pzq.1	protein_coding	YES	CCDS31705.1			245/936									ovary(2)	2	c.(244-246)ACC>ATC			Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF7,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 10, subfamily G,				ENSP00000329689		1-Jan									COSM2157269	1-Jan	.		ENST00000330487	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000182634	g.chr11:123909464G>A	14842			MODERATE		0.425	neutral	getma.org/?cm=msa&ty=f&p=O10G7_HUMAN&rb=1&re=137&var=T82I	getma.org/pdb.php?prot=O10G7_HUMAN&from=1&to=137&var=T82I	getma.org/?cm=var&var=hg19,11,123909464,G,A&fts=all	T82I	--	--	1																																			1	1		benign(0.012)	p.T82I	NM_001004463	NP_001004463		tolerated(0.3)	1	O10G7_HUMAN	OR10G7	HGNC	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)			1	245	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	UPI0000040A84	82			Extracellular (Potential).		SNV	OR10G7,missense_variant,p.Thr82Ile,ENST00000330487,NM_001004463.1;	uc001pzq.1	c.245C>T	254/945	2	2			c.245C>T						11	SNP	c.(244-246)ACC>ATC	29	29			ovary(2)	2	Broad	olfactory receptor, family 10, subfamily G,			123909464		0.532	ENSG00000182634	10710	g.chr11:123909464G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							180.577969	KEEP	51	46	-1	163	158	51	46	-1	197.102296	163	158	0.252525	1	0	0	0	0	1	0	0	0	--	--		0	A				194	GBM-27-1835-TP	p.T82I	G	GGACACCAAGGTCATCAGCAT	NM_001004463	NP_001004463	123909464	Q8NGN6	O10G7_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	245	-	A	A		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	Missense_Mutation	82			Extracellular (Potential).			
OR10G8	219869	broad.mit.edu	GRCh37	11	123901241	123901243	+	inframe_deletion	In_Frame_Del	DEL	AGT	AGT	-			TCGA-06-6390-01	TCGA-06-6390-01	AGT	AGT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000431524.1:c.914_916del	p.Val305del	p.V305del	ENST00000431524	NM_001004464.1	304	aaAGTa/aaa	0			1			-	KV/K	uc001pzp.1	protein_coding	YES	CCDS31704.1			912-914/936									ovary(1)|skin(1)	2	c.(910-915)AAAGTA>AAA			Low_complexity_(Seg):seg,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF146	olfactory receptor, family 10, subfamily G,				ENSP00000389072		1-Jan									COSM2153447	1-Jan	.		ENST00000431524	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000234560	g.chr11:123901241_123901243delAGT	14845	2		MODERATE								--	--	1																																			1	1			p.V305del	NM_001004464	NP_001004464			1	O10G8_HUMAN	OR10G8	HGNC	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)			1	912_914	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	UPI0000040A8F	305			Cytoplasmic (Potential).		deletion	OR10G8,inframe_deletion,p.Val305del,ENST00000431524,NM_001004464.1;	uc001pzp.1	c.912_914delAGT	945-947/1045	5	5			c.912_914delAGT						11	DEL	c.(910-915)AAAGTA>AAA	52	52			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 10, subfamily G,			123901243		0.291	ENSG00000234560	10711	g.chr11:123901241_123901243delAGT	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity																				0.25	1	1	0	1	0	0	0	0	0	--	--		0	-				106	GBM-06-6390-TP	p.V305del	AGT	TGAAAGACAAAGTAGCACATTCT	NM_001004464	NP_001004464	123901241	Q8NGN5	O10G8_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	912_914	+	-	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	In_Frame_Del	305			Cytoplasmic (Potential).			
OR10G8	0	broad.mit.edu	GRCh37	11	123901051	123901051	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000431524.1:c.722C>G	p.Ala241Gly	p.A241G	ENST00000431524	NM_001004464.1	241	gCc/gGc	0			1			G	A/G	uc001pzp.1	protein_coding	YES	CCDS31704.1			722/936									ovary(1)|skin(1)	2	c.(721-723)GCC>GGC			Transmembrane_helices:TMhelix,Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF146,PROSITE_profiles:PS50262	olfactory receptor, family 10, subfamily G,				ENSP00000389072		1-Jan									COSM3397509	1-Jan	.		ENST00000431524	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000234560	g.chr11:123901051C>G	14845			MODERATE		-0.055	neutral	getma.org/?cm=msa&ty=f&p=O10G8_HUMAN&rb=138&re=280&var=A241G	NA	getma.org/?cm=var&var=hg19,11,123901051,C,G&fts=all	A241G	--	--	1																																			1	1		possibly_damaging(0.845)	p.A241G	NM_001004464	NP_001004464		tolerated(0.36)	1	O10G8_HUMAN	OR10G8	HGNC	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)			1	722	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	UPI0000040A8F	241			Helical; Name=6; (Potential).		SNV	OR10G8,missense_variant,p.Ala241Gly,ENST00000431524,NM_001004464.1;	uc001pzp.1	c.722C>G	755/1045	3	3			c.722C>G						11	SNP	c.(721-723)GCC>GGC	49	49			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 10, subfamily G,			123901051		0.547	ENSG00000234560	10711	g.chr11:123901051C>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							207.122309	KEEP	45	20	-1	25	22	45	20	-1	207.71243	25	22	0.580952	1	0	0	0	0	1	0	0	0	--	--		0	G				159	GBM-19-1390-TP	p.A241G	C	CAGACCTGTGCCTCCCACTGT	NM_001004464	NP_001004464	123901051	Q8NGN5	O10G8_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	722	+	G	G		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	Missense_Mutation	241			Helical; Name=6; (Potential).			
OR10G9	219870	broad.mit.edu	GRCh37	11	123894514	123894514	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0744-01	TCGA-06-0744-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375024.1:c.795C>T	p.Asp265=	p.D265=	ENST00000375024	NM_001001953.1	265	gaC/gaT	0			1			T	D	uc010sad.1	protein_coding	YES	CCDS31703.1			795/936									skin(2)	2	c.(793-795)GAC>GAT			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF6,Superfamily_domains:SSF81321	olfactory receptor, family 10, subfamily G,				ENSP00000364164		1-Jan	2.47E-05					4.50E-05			rs758211969,COSM2151612	1-Jan	.		ENST00000375024	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000236981	g.chr11:123894514C>T	15129			LOW								--	--	1																																			0,1	1			p.D265D	NM_001001953	NP_001001953			0,1	O10G9_HUMAN	OR10G9	HGNC	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)			1	795	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	UPI0000041BE1	265			Extracellular (Potential).		SNV	OR10G9,synonymous_variant,p.=,ENST00000375024,NM_001001953.1;	uc010sad.1	c.795C>T	795/936	2	2			c.795C>T						11	SNP	c.(793-795)GAC>GAT	28	28			skin(2)	2	Broad	olfactory receptor, family 10, subfamily G,			123894514		0.517	ENSG00000236981	10712	g.chr11:123894514C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							296.983784	KEEP	64	41	-1	110	47	64	41	-1	298.334938	110	47	0.418803	1	0	0	0	0	0	0	1	0	--	--		0	T				66	GBM-06-0744-TP	p.D265D	C	GCTCCAGGGACGTCGTGGATG	NM_001001953	NP_001001953	123894514	Q8NGN4	O10G9_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	795	+	T	T		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	Silent	265			Extracellular (Potential).			
OR10H1	26539	broad.mit.edu	GRCh37	19	15917903	15917903	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0743-01	TCGA-06-0743-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334920.2:c.945del	p.Asn315LysfsTer2	p.N315Kfs*2	ENST00000334920	NM_013940.2	315	aaT/aa	0			1			-	N/X	uc002nbq.2	protein_coding	YES	CCDS12335.1			945/957										0	c.(943-945)AATfs			hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF85	olfactory receptor, family 10, subfamily H,				ENSP00000335596		1-Jan									rs770020662	1-Jan	.		ENST00000334920	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000186723	g.chr19:15917903delA	8172			HIGH								--	--	1																																				1			p.N315fs	NM_013940	NP_039228				O10H1_HUMAN	OR10H1	HGNC	Q9Y4A9	O10H1_HUMAN					1	1034	-			UPI000004CA3D	315			Cytoplasmic (Potential).		deletion	OR10H1,frameshift_variant,p.Asn315LysfsTer2,ENST00000334920,NM_013940.2;	uc002nbq.2	c.945delT	1034/1120	5	5			c.945delT						19	DEL	c.(943-945)AATfs	15	15				0	Broad	olfactory receptor, family 10, subfamily H,			15917903		0.363	ENSG00000186723	10713	g.chr19:15917903delA	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity																				0.22	1	1	0	1	0	0	0	0	0	--	--		0	-				65	GBM-06-0743-TP	p.N315fs	A	ACATCATTACATTTTTTTCTG	NM_013940	NP_039228	15917903	Q9Y4A9	O10H1_HUMAN	0			1	1034	-	-	-			Frame_Shift_Del	315			Cytoplasmic (Potential).			
OR10H1	0	broad.mit.edu	GRCh37	19	15918076	15918076	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01	TCGA-19-5958-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334920.2:c.772G>A	p.Val258Ile	p.V258I	ENST00000334920	NM_013940.2	258	Gtc/Atc	0			1			T	V/I	uc002nbq.2	protein_coding	YES	CCDS12335.1			772/957										0	c.(772-774)GTC>ATC			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF85,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 10, subfamily H,				ENSP00000335596		1-Jan	5.77E-05			0.000116		8.99E-05			rs780602555,COSM1391212	1-Jan	.		ENST00000334920	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000186723	g.chr19:15918076C>T	8172			MODERATE		-0.65	neutral	getma.org/?cm=msa&ty=f&p=O10H1_HUMAN&rb=139&re=284&var=V258I	NA	getma.org/?cm=var&var=hg19,19,15918076,C,T&fts=all	V258I	--	--	1																																			0,1	1		benign(0.032)	p.V258I	NM_013940	NP_039228		tolerated(1)	0,1	O10H1_HUMAN	OR10H1	HGNC	Q9Y4A9	O10H1_HUMAN					1	861	-			UPI000004CA3D	258			Helical; Name=6; (Potential).		SNV	OR10H1,missense_variant,p.Val258Ile,ENST00000334920,NM_013940.2;	uc002nbq.2	c.772G>A	861/1120	2	2			c.772G>A						19	SNP	c.(772-774)GTC>ATC	17	17				0	Broad	olfactory receptor, family 10, subfamily H,			15918076		0.552	ENSG00000186723	10713	g.chr19:15918076C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							18.87947	KEEP	12	5	-1	41	42	12	5	-1	26.959748	41	42	0.15493	1	0	0	0	0	1	0	0	0	--	--		0	T				176	GBM-19-5958-TP	p.V258I	C	AGGTAAATGACGGAGGCAAAG	NM_013940	NP_039228	15918076	Q9Y4A9	O10H1_HUMAN	0			1	861	-	T	T			Missense_Mutation	258			Helical; Name=6; (Potential).			
OR10H1	0	broad.mit.edu	GRCh37	19	15918727	15918727	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-2491-01	TCGA-32-2491-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334920.2:c.121G>T	p.Gly41Cys	p.G41C	ENST00000334920	NM_013940.2	41	Ggc/Tgc	0			1			A	G/C	uc002nbq.2	protein_coding	YES	CCDS12335.1			121/957										0	c.(121-123)GGC>TGC			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF85,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 10, subfamily H,				ENSP00000335596		1-Jan									COSM3403885	1-Jan	.		ENST00000334920	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000186723	g.chr19:15918727C>A	8172			MODERATE		3.715	high	getma.org/?cm=msa&ty=f&p=O10H1_HUMAN&rb=1&re=138&var=G41C	getma.org/pdb.php?prot=O10H1_HUMAN&from=1&to=138&var=G41C	getma.org/?cm=var&var=hg19,19,15918727,C,A&fts=all	G41C	--	--	1																																			1	1		probably_damaging(1)	p.G41C	NM_013940	NP_039228		deleterious(0.01)	1	O10H1_HUMAN	OR10H1	HGNC	Q9Y4A9	O10H1_HUMAN					1	210	-			UPI000004CA3D	41			Helical; Name=1; (Potential).		SNV	OR10H1,missense_variant,p.Gly41Cys,ENST00000334920,NM_013940.2;	uc002nbq.2	c.121G>T	210/1120	1	1			c.121G>T						19	SNP	c.(121-123)GGC>TGC	62	62				0	Broad	olfactory receptor, family 10, subfamily H,			15918727		0.597	ENSG00000186723	10713	g.chr19:15918727C>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							70.346539	KEEP	29	15	0.340909091	80	73	29	15	0.340909091	80.927212	80	73	0.216783	1	0	0	0	0	1	0	0	0	--	--		0	A				235	GBM-32-2491-TP	p.G41C	C	AGCAGGTTGCCCAGCAGCGTG	NM_013940	NP_039228	15918727	Q9Y4A9	O10H1_HUMAN	0			1	210	-	A	A			Missense_Mutation	41			Helical; Name=1; (Potential).			
OR10H2	0	broad.mit.edu	GRCh37	19	15839024	15839024	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-4157-01	TCGA-14-4157-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305899.3:c.171G>A	p.Thr57=	p.T57=	ENST00000305899	NM_013939.2	57	acG/acA	0			1			A	T	uc002nbm.2	protein_coding	YES	CCDS12333.1			171/948									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(169-171)ACG>ACA			PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF85,hmmpanther:PTHR24247,Gene3D:1.20.1070.10,Pfam_domain:PF10320,Superfamily_domains:SSF81321	olfactory receptor, family 10, subfamily H,				ENSP00000306095		1-Jan	8.24E-06	9.61E-05							rs755709971,COSM3403881	1-Jan	.		ENST00000305899	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000171942	g.chr19:15839024G>A	8173			LOW								--	--	1																																			0,1	1			p.T57T	NM_013939	NP_039227			0,1	O10H2_HUMAN	OR10H2	HGNC	O60403	O10H2_HUMAN					1	191	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		UPI000004CA3E	57			Helical; Name=2; (Potential).		SNV	OR10H2,synonymous_variant,p.=,ENST00000305899,NM_013939.2;	uc002nbm.2	c.171G>A	191/1029	2	2			c.171G>A						19	SNP	c.(169-171)ACG>ACA	22	22			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	olfactory receptor, family 10, subfamily H,			15839024		0.612	ENSG00000171942	10714	g.chr19:15839024G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-67.716244	KEEP	3	6	-1	141	259	3	6	-1	10.18292	141	259	0.022801	1	0	0	0	0	0	0	1	0	--	--		0	A				152	GBM-14-4157-TP	p.T57T	G	GCCTCCACACGCCCATGTACC	NM_013939	NP_039227	15839024	O60403	O10H2_HUMAN	0			1	191	+	A	A	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		Silent	57			Helical; Name=2; (Potential).			
OR10H2	0	broad.mit.edu	GRCh37	19	15839588	15839589	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	CTTATTGTGG			TCGA-27-1831-01	TCGA-27-1831-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305899.3:c.736_745dupCTTATTGTGG	p.Val249AlafsTer27	p.V249Afs*27	ENST00000305899	NM_013939.2	245	-/CTTATTGTGG	0			1			CTTATTGTGG	-/LIVX	uc002nbm.2	protein_coding	YES	CCDS12333.1			735-736/948									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(733-738)CACCTTfs			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF85,hmmpanther:PTHR24247,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	olfactory receptor, family 10, subfamily H,				ENSP00000306095		1-Jan										1-Jan	.		ENST00000305899	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000171942	g.chr19:15839588_15839589insCTTATTGTGG	8173	10		HIGH								--	--	1																																				1			p.H245fs	NM_013939	NP_039227				O10H2_HUMAN	OR10H2	HGNC	O60403	O10H2_HUMAN					1	755_756	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		UPI000004CA3E	245_246			Helical; Name=6; (Potential).		insertion	OR10H2,frameshift_variant,p.Val249AlafsTer27,ENST00000305899,NM_013939.2;	uc002nbm.2	c.735_736insCTTATTGTGG	755-756/1029	5	5			c.735_736insCTTATTGTGG						19	INS	c.(733-738)CACCTTfs	58	58			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	olfactory receptor, family 10, subfamily H,			15839589		0.54	ENSG00000171942	10714	g.chr19:15839588_15839589insCTTATTGTGG	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity																				0.18	1	0	0	1	1	0	0	0	0	--	--		0	CTTATTGTGG				190	GBM-27-1831-TP	p.H245fs	-	GTGCCTCTCACCTTATTGTGGT	NM_013939	NP_039227	15839588	O60403	O10H2_HUMAN	0			1	755_756	+	CTTATTGTGG	CTTATTGTGG	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		Frame_Shift_Ins	245_246			Helical; Name=6; (Potential).			
OR10H3	0	broad.mit.edu	GRCh37	19	15852470	15852470	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-1439-01	TCGA-26-1439-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305892.1:c.268C>T	p.His90Tyr	p.H90Y	ENST00000305892	NM_013938.1	90	Cat/Tat	0			1			T	H/Y	uc010xoq.1	protein_coding	YES	CCDS12334.1			268/951										0	c.(268-270)CAT>TAT			Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF86,Superfamily_domains:SSF81321	olfactory receptor, family 10, subfamily H,				ENSP00000307130		1-Jan									COSM2156863	1-Jan	.		ENST00000305892	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000171936	g.chr19:15852470C>T	8174			MODERATE		1.07	low	getma.org/?cm=msa&ty=f&p=O10H3_HUMAN&rb=1&re=139&var=H90Y	getma.org/pdb.php?prot=O10H3_HUMAN&from=1&to=139&var=H90Y	getma.org/?cm=var&var=hg19,19,15852470,C,T&fts=all	H90Y	--	--	1																																			1	1		benign(0.004)	p.H90Y	NM_013938	NP_039226		tolerated(0.41)	1	O10H3_HUMAN	OR10H3	HGNC	O60404	O10H3_HUMAN					1	268	+			UPI0000041DB5	90			Extracellular (Potential).		SNV	OR10H3,missense_variant,p.His90Tyr,ENST00000305892,NM_013938.1;	uc010xoq.1	c.268C>T	268/951	1	1			c.268C>T						19	SNP	c.(268-270)CAT>TAT	3	3				0	Broad	olfactory receptor, family 10, subfamily H,			15852470		0.502	ENSG00000171936	10715	g.chr19:15852470C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							512.929726	KEEP	121	160	-1	262	361	121	160	-1	536.052491	262	361	0.298905	1	0	0	0	0	1	0	0	0	--	--		0	T				179	GBM-26-1439-TP	p.H90Y	C	GCTCTTCACCCATCGTTCCAT	NM_013938	NP_039226	15852470	O60404	O10H3_HUMAN	0			1	268	+	T	T			Missense_Mutation	90			Extracellular (Potential).			
OR10H4	126541	broad.mit.edu	GRCh37	19	16060302	16060302	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01	TCGA-06-0155-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322107.1:c.485C>T	p.Thr162Met	p.T162M	ENST00000322107	NM_001004465.1	162	aCg/aTg	0			1			T	T/M	uc010xov.1	protein_coding	YES	CCDS32941.1			485/951								p.T162T(1)	ovary(1)|breast(1)	2	c.(484-486)ACG>ATG			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF78,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 10, subfamily H,				ENSP00000318834		1-Jan	8.24E-06					1.50E-05			rs749272961,COSM2150015	1-Jan	.		ENST00000322107	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000176231	g.chr19:16060302C>T	15388			MODERATE		1.76	low	getma.org/?cm=msa&ty=f&p=O10H4_HUMAN&rb=141&re=285&var=T162M	NA	getma.org/?cm=var&var=hg19,19,16060302,C,T&fts=all	T162M	--	--	1																																			0,1	1		benign(0.009)	p.T162M	NM_001004465	NP_001004465		tolerated(0.17)	0,1	O10H4_HUMAN	OR10H4	HGNC	Q8NGA5	O10H4_HUMAN					1	485	+			UPI0000046194	162			Extracellular (Potential).		SNV	OR10H4,missense_variant,p.Thr162Met,ENST00000322107,NM_001004465.1;	uc010xov.1	c.485C>T	485/951	2	2			c.485C>T						19	SNP	c.(484-486)ACG>ATG	40	40		p.T162T(1)	ovary(1)|breast(1)	2	Broad	olfactory receptor, family 10, subfamily H,			16060302		0.502	ENSG00000176231	10716	g.chr19:16060302C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							280.484736	KEEP	61	57	-1	151	181	61	57	-1	302.244275	151	181	0.263889	1	0	0	0	0	1	0	0	0	--	--		0	T				27	GBM-06-0155-TP	p.T162M	C	ATGGTGACAACGATAGTTTTC	NM_001004465	NP_001004465	16060302	Q8NGA5	O10H4_HUMAN	0			1	485	+	T	T			Missense_Mutation	162			Extracellular (Potential).			
OR10H5	0	broad.mit.edu	GRCh37	19	15905136	15905136	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01	TCGA-16-0846-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308940.8:c.278C>T	p.Ala93Val	p.A93V	ENST00000308940	NM_001004466.1	93	gCc/gTc	0			1			T	A/V	uc010xos.1	protein_coding	YES	CCDS32940.1			278/948									ovary(1)	1	c.(277-279)GCC>GTC			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF85,hmmpanther:PTHR24247,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	olfactory receptor, family 10, subfamily H,				ENSP00000310704		1-Jan									COSM3403884	1-Jan	.		ENST00000308940	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000172519	g.chr19:15905136C>T	15389			MODERATE		1.495	low	getma.org/?cm=msa&ty=f&p=O10H5_HUMAN&rb=1&re=138&var=A93V	getma.org/pdb.php?prot=O10H5_HUMAN&from=1&to=138&var=A93V	getma.org/?cm=var&var=hg19,19,15905136,C,T&fts=all	A93V	--	--	1																																			1	1		benign(0.009)	p.A93V	NM_001004466	NP_001004466		deleterious(0)	1	O10H5_HUMAN	OR10H5	HGNC	Q8NGA6	O10H5_HUMAN					1	278	+			UPI0000041C8F	93			Extracellular (Potential).		SNV	OR10H5,missense_variant,p.Ala93Val,ENST00000308940,NM_001004466.1;	uc010xos.1	c.278C>T	376/1132	1	1			c.278C>T						19	SNP	c.(277-279)GCC>GTC	11	11			ovary(1)	1	Broad	olfactory receptor, family 10, subfamily H,			15905136		0.607	ENSG00000172519	10717	g.chr19:15905136C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							49.066907	KEEP	22	11	-1	86	71	22	11	-1	62.458745	86	71	0.183099	1	0	0	0	0	1	0	0	0	--	--		0	T				155	GBM-16-0846-TP	p.A93V	C	CGCTCCATCGCCTTCCTGGCC	NM_001004466	NP_001004466	15905136	Q8NGA6	O10H5_HUMAN	0			1	278	+	T	T			Missense_Mutation	93			Extracellular (Potential).			
OR10H5	0	broad.mit.edu	GRCh37	19	15905063	15905063	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-5959-01	TCGA-19-5959-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308940.8:c.205A>G	p.Thr69Ala	p.T69A	ENST00000308940	NM_001004466.1	69	Acc/Gcc	0			1			G	T/A	uc010xos.1	protein_coding	YES	CCDS32940.1			205/948									ovary(1)	1	c.(205-207)ACC>GCC			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF85,hmmpanther:PTHR24247,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 10, subfamily H,				ENSP00000310704		1-Jan									COSM3403883	1-Jan	.		ENST00000308940	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000172519	g.chr19:15905063A>G	15389			MODERATE		0.135	neutral	getma.org/?cm=msa&ty=f&p=O10H5_HUMAN&rb=1&re=138&var=T69A	getma.org/pdb.php?prot=O10H5_HUMAN&from=1&to=138&var=T69A	getma.org/?cm=var&var=hg19,19,15905063,A,G&fts=all	T69A	--	--	1																																			1	1		benign(0.001)	p.T69A	NM_001004466	NP_001004466		deleterious(0)	1	O10H5_HUMAN	OR10H5	HGNC	Q8NGA6	O10H5_HUMAN					1	205	+			UPI0000041C8F	69			Helical; Name=2; (Potential).		SNV	OR10H5,missense_variant,p.Thr69Ala,ENST00000308940,NM_001004466.1;	uc010xos.1	c.205A>G	303/1132	3	3			c.205A>G						19	SNP	c.(205-207)ACC>GCC	51	51			ovary(1)	1	Broad	olfactory receptor, family 10, subfamily H,			15905063		0.622	ENSG00000172519	10717	g.chr19:15905063A>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							86.918388	KEEP	10	21	-1	29	41	10	21	-1	89.784498	29	41	0.315789	1	0	0	0	0	1	0	0	0	--	--		0	G				177	GBM-19-5959-TP	p.T69A	A	CCTCTCCATCACCGAGATCCT	NM_001004466	NP_001004466	15905063	Q8NGA6	O10H5_HUMAN	0			1	205	+	G	G			Missense_Mutation	69			Helical; Name=2; (Potential).			
OR10H5	0	broad.mit.edu	GRCh37	19	15905052	15905052	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01	TCGA-32-2495-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308940.8:c.194C>T	p.Ala65Val	p.A65V	ENST00000308940	NM_001004466.1	65	gCc/gTc	0			1			T	A/V	uc010xos.1	protein_coding	YES	CCDS32940.1			194/948									ovary(1)	1	c.(193-195)GCC>GTC			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF85,hmmpanther:PTHR24247,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 10, subfamily H,				ENSP00000310704		1-Jan	1.65E-05					3.00E-05			rs781047992,COSM3403882	1-Jan	.		ENST00000308940	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000172519	g.chr19:15905052C>T	15389			MODERATE		-0.545	neutral	getma.org/?cm=msa&ty=f&p=O10H5_HUMAN&rb=1&re=138&var=A65V	getma.org/pdb.php?prot=O10H5_HUMAN&from=1&to=138&var=A65V	getma.org/?cm=var&var=hg19,19,15905052,C,T&fts=all	A65V	--	--	1																																			0,1	1		benign(0.029)	p.A65V	NM_001004466	NP_001004466		tolerated(0.51)	0,1	O10H5_HUMAN	OR10H5	HGNC	Q8NGA6	O10H5_HUMAN					1	194	+			UPI0000041C8F	65			Helical; Name=2; (Potential).		SNV	OR10H5,missense_variant,p.Ala65Val,ENST00000308940,NM_001004466.1;	uc010xos.1	c.194C>T	292/1132	2	2			c.194C>T						19	SNP	c.(193-195)GCC>GTC	39	39			ovary(1)	1	Broad	olfactory receptor, family 10, subfamily H,			15905052		0.627	ENSG00000172519	10717	g.chr19:15905052C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-39.353153	KEEP	0	4	-1	97	101	0	4	-1	6.783337	97	101	0.022099	1	0	0	0	0	1	0	0	0	--	--		0	T				237	GBM-32-2495-TP	p.A65V	C	TTCCTGTGTGCCCTCTCCATC	NM_001004466	NP_001004466	15905052	Q8NGA6	O10H5_HUMAN	0			1	194	+	T	T			Missense_Mutation	65			Helical; Name=2; (Potential).			
OR10J1	26476	broad.mit.edu	GRCh37	1	159410403	159410403	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0152-01	TCGA-06-0152-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000423932.3:c.855G>A	p.Ser285=	p.S285=	ENST00000423932	NM_012351.2	285	tcG/tcA	0			1			A	S	uc010piv.1	protein_coding	YES	CCDS1185.1			855/963									ovary(1)	1	c.(853-855)TCG>TCA			Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF249,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 10, subfamily J,				ENSP00000399078		1-Jan	8.24E-05		0.000779			1.50E-05			rs753350078,COSM2149885	1-Jan	common_variant		ENST00000423932	Transcript			sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	ENSG00000196184	g.chr1:159410403G>A	8175			LOW								--	--	1																																		uc001fts.3_Intron	0,1	1			p.S285S	NM_012351	NP_036483			0,1	O10J1_HUMAN	OR10J1	HGNC	P30954	O10J1_HUMAN					1	855	+	all_hematologic(112;0.0429)		UPI000013E7DA	285			Helical; Name=7; (Potential).		SNV	OR10J1,synonymous_variant,p.=,ENST00000423932,NM_012351.2;RP11-550P17.5,intron_variant,,ENST00000431862,;	uc010piv.1	c.855G>A	892/1089	2	2			c.855G>A						1	SNP	c.(853-855)TCG>TCA	38	38			ovary(1)	1	Broad	olfactory receptor, family 10, subfamily J,			159410403		0.517	ENSG00000196184	10718	g.chr1:159410403G>A	sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity							521.280306	KEEP	93	74	-1	45	42	93	74	-1	527.872475	45	42	0.685185	1	0	0	0	0	0	0	1	0	--	--		0	A			uc001fts.3_Intron	25	GBM-06-0152-TP	p.S285S	G	AGCTGATCTCGGTGACCTACA	NM_012351	NP_036483	159410403	P30954	O10J1_HUMAN	0			1	855	+	A	A	all_hematologic(112;0.0429)		Silent	285			Helical; Name=7; (Potential).			
OR10J3	0	broad.mit.edu	GRCh37	1	159283794	159283794	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-14-1829-01	TCGA-14-1829-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332217.5:c.656A>T	p.Tyr219Phe	p.Y219F	ENST00000332217	NM_001004467.1	219	tAt/tTt	0			1			A	Y/F	uc010piu.1	protein_coding	YES	CCDS30909.1			656/990									ovary(2)	2	c.(655-657)TAT>TTT			Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF28,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 10, subfamily J,				ENSP00000331789		1-Jan									COSM3747799	1-Jan	.		ENST00000332217	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000196266	g.chr1:159283794T>A	14992			MODERATE		4.025	high	getma.org/?cm=msa&ty=f&p=O10J3_HUMAN&rb=140&re=284&var=Y219F	NA	getma.org/?cm=var&var=hg19,1,159283794,T,A&fts=all	Y219F	--	--	1																																			1	1		probably_damaging(0.994)	p.Y219F	NM_001004467	NP_001004467		deleterious(0)	1	O10J3_HUMAN	OR10J3	HGNC	Q5JRS4	O10J3_HUMAN					1	656	-	all_hematologic(112;0.0429)		UPI0000441EEF	219			Cytoplasmic (Potential).		SNV	OR10J3,missense_variant,p.Tyr219Phe,ENST00000332217,NM_001004467.1;	uc010piu.1	c.656A>T	656/990	2	2			c.656A>T						1	SNP	c.(655-657)TAT>TTT	33	33			ovary(2)	2	Broad	olfactory receptor, family 10, subfamily J,			159283794		0.502	ENSG00000196266	10719	g.chr1:159283794T>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-25.053913	KEEP	7	3	-1	82	110	7	3	-1	15.793765	82	110	0.043716	1	0	0	0	0	1	0	0	0	--	--		0	A				149	GBM-14-1829-TP	p.Y219F	T	GATGAGGACATAGGAGATAAA	NM_001004467	NP_001004467	159283794	Q5JRS4	O10J3_HUMAN	0			1	656	-	A	A	all_hematologic(112;0.0429)		Missense_Mutation	219			Cytoplasmic (Potential).			
OR10J3	0	broad.mit.edu	GRCh37	1	159283999	159283999	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4209-01	TCGA-32-4209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332217.5:c.451G>A	p.Gly151Arg	p.G151R	ENST00000332217	NM_001004467.1	151	Ggg/Agg	0			1			T	G/R	uc010piu.1	protein_coding	YES	CCDS30909.1			451/990									ovary(2)	2	c.(451-453)GGG>AGG			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF28,Superfamily_domains:SSF81321	olfactory receptor, family 10, subfamily J,				ENSP00000331789		1-Jan									COSM3399873	1-Jan	.		ENST00000332217	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000196266	g.chr1:159283999C>T	14992			MODERATE		1.52	low	getma.org/?cm=msa&ty=f&p=O10J3_HUMAN&rb=140&re=284&var=G151R	NA	getma.org/?cm=var&var=hg19,1,159283999,C,T&fts=all	G151R	--	--	1																																			1	1		benign(0.178)	p.G151R	NM_001004467	NP_001004467		tolerated(0.38)	1	O10J3_HUMAN	OR10J3	HGNC	Q5JRS4	O10J3_HUMAN					1	451	-	all_hematologic(112;0.0429)		UPI0000441EEF	151			Helical; Name=4; (Potential).		SNV	OR10J3,missense_variant,p.Gly151Arg,ENST00000332217,NM_001004467.1;	uc010piu.1	c.451G>A	451/990	2	2			c.451G>A						1	SNP	c.(451-453)GGG>AGG	33	33			ovary(2)	2	Broad	olfactory receptor, family 10, subfamily J,			159283999		0.507	ENSG00000196266	10719	g.chr1:159283999C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-19.475589	KEEP	3	0	-1	53	63	3	0	-1	8.520013	53	63	0.026549	1	0	0	0	0	1	0	0	0	--	--		0	T				244	GBM-32-4209-TP	p.G151R	C	AGGCCAATCCCCAGTGATCCA	NM_001004467	NP_001004467	159283999	Q5JRS4	O10J3_HUMAN	0			1	451	-	T	T	all_hematologic(112;0.0429)		Missense_Mutation	151			Helical; Name=4; (Potential).			
OR10Q1	219960	broad.mit.edu	GRCh37	11	57996044	57996044	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01	TCGA-06-6391-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316770.2:c.304G>A	p.Gly102Arg	p.G102R	ENST00000316770	NM_001004471.2	102	Ggg/Agg	0			1			T	G/R	uc010rkd.1	protein_coding	YES	CCDS31547.1			304/960									ovary(2)	2	c.(304-306)GGG>AGG			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF253,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	olfactory receptor, family 10, subfamily Q,				ENSP00000314324		1-Jan										1-Jan	.		ENST00000316770	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000180475	g.chr11:57996044C>T	15134			MODERATE		2.03	medium	getma.org/?cm=msa&ty=f&p=O10Q1_HUMAN&rb=1&re=142&var=G102R	getma.org/pdb.php?prot=O10Q1_HUMAN&from=1&to=142&var=G102R	getma.org/?cm=var&var=hg19,11,57996044,C,T&fts=all	G102R	--	--	1																																				1		benign(0.191)	p.G102R	NM_001004471	NP_001004471		deleterious(0.01)		O10Q1_HUMAN	OR10Q1	HGNC	Q8NGQ4	O10Q1_HUMAN					1	304	-		Breast(21;0.0589)	UPI0000041C4C	102			Extracellular (Potential).		SNV	OR10Q1,missense_variant,p.Gly102Arg,ENST00000316770,NM_001004471.2;	uc010rkd.1	c.304G>A	347/1037	1	1			c.304G>A						11	SNP	c.(304-306)GGG>AGG	5	5			ovary(2)	2	Broad	olfactory receptor, family 10, subfamily Q,			57996044		0.547	ENSG00000180475	10724	g.chr11:57996044C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							37.365629	KEEP	7	6	-1	11	16	7	6	-1	38.323245	11	16	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	T				107	GBM-06-6391-TP	p.G102R	C	ATTTGGGCCCCACATCCAGCC	NM_001004471	NP_001004471	57996044	Q8NGQ4	O10Q1_HUMAN	0			1	304	-	T	T		Breast(21;0.0589)	Missense_Mutation	102			Extracellular (Potential).			
OR10R2	0	broad.mit.edu	GRCh37	1	158449688	158449688	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-12-0821-01	TCGA-12-0821-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368152.1:c.21C>G	p.Phe7Leu	p.F7L	ENST00000368152	NM_001004472.1	7	ttC/ttG	0			1			G	F/L	uc010pik.1	protein_coding	YES	CCDS30898.1			21/1008									pancreas(2)|skin(1)	3	c.(19-21)TTC>TTG			Transmembrane_helices:TMhelix	olfactory receptor, family 10, subfamily R,				ENSP00000357134		1-Jan									COSM3399842	1-Jan	.		ENST00000368152	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000198965	g.chr1:158449688C>G	14820			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=O10R2_HUMAN&rb=1&re=158&var=F7L	NA	getma.org/?cm=var&var=hg19,1,158449688,C,G&fts=all	F7L	--	--	1																																		uc001fso.1_Intron	1	1		benign(0)	p.F7L	NM_001004472	NP_001004472		tolerated(0.57)	1	O10R2_HUMAN	OR10R2	HGNC	Q8NGX6	O10R2_HUMAN					1	21	+	all_hematologic(112;0.0378)		UPI000004CA1C	7			Extracellular (Potential).		SNV	OR10R2,missense_variant,p.Phe7Leu,ENST00000368152,NM_001004472.1;RP11-144L1.4,splice_region_variant,,ENST00000419738,;RP11-144L1.4,intron_variant,,ENST00000426251,;	uc010pik.1	c.21C>G	21/1008	4	4			c.21C>G						1	SNP	c.(19-21)TTC>TTG	26	26			pancreas(2)|skin(1)	3	Broad	olfactory receptor, family 10, subfamily R,			158449688		0.279	ENSG00000198965	10725	g.chr1:158449688C>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							253.208744	KEEP	57	25	-1	124	48	57	25	-1	258.396045	124	48	0.339207	1	0	0	0	0	1	0	0	0	--	--		0	G			uc001fso.1_Intron	123	GBM-12-0821-TP	p.F7L	C	TTCTTATATTCACATACCTGA	NM_001004472	NP_001004472	158449688	Q8NGX6	O10R2_HUMAN	0			1	21	+	G	G	all_hematologic(112;0.0378)		Missense_Mutation	7			Extracellular (Potential).			
OR10R2	0	broad.mit.edu	GRCh37	1	158449884	158449884	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-26-6173-01	TCGA-26-6173-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368152.1:c.220delA	p.Ser74AlafsTer64	p.S74Afs*64	ENST00000368152	NM_001004472.1	73	Aaa/aa	0			1			-	K/X	uc010pik.1	protein_coding	YES	CCDS30898.1			217/1008									pancreas(2)|skin(1)	3	c.(217-219)AAAfs			Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF42,Superfamily_domains:SSF81321	olfactory receptor, family 10, subfamily R,				ENSP00000357134		1-Jan										1-Jan	.		ENST00000368152	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000198965	g.chr1:158449884delA	14820	3		HIGH								--	--	1																																		uc001fso.1_RNA		1			p.K73fs	NM_001004472	NP_001004472				O10R2_HUMAN	OR10R2	HGNC	Q8NGX6	O10R2_HUMAN					1	217	+	all_hematologic(112;0.0378)		UPI000004CA1C	73			Cytoplasmic (Potential).		deletion	OR10R2,frameshift_variant,p.Ser74AlafsTer64,ENST00000368152,NM_001004472.1;RP11-144L1.4,non_coding_transcript_exon_variant,,ENST00000419738,;RP11-144L1.4,intron_variant,,ENST00000426251,;	uc010pik.1	c.217delA	217/1008	5	5			c.217delA						1	DEL	c.(217-219)AAAfs	21	21			pancreas(2)|skin(1)	3	Broad	olfactory receptor, family 10, subfamily R,			158449884		0.418	ENSG00000198965	10725	g.chr1:158449884delA	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity																				0.15	1	1	0	1	0	0	0	0	0	--	--		0	-			uc001fso.1_RNA	187	GBM-26-6173-TP	p.K73fs	A	CCACCTGGATAAAAGCCTCCA	NM_001004472	NP_001004472	158449884	Q8NGX6	O10R2_HUMAN	0			1	217	+	-	-	all_hematologic(112;0.0378)		Frame_Shift_Del	73			Cytoplasmic (Potential).			
OR10R2	0	broad.mit.edu	GRCh37	1	158450132	158450132	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-32-2494-01	TCGA-32-2494-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368152.1:c.465T>C	p.Leu155=	p.L155=	ENST00000368152	NM_001004472.1	155	ctT/ctC	0			1			C	L	uc010pik.1	protein_coding	YES	CCDS30898.1			465/1008									pancreas(2)|skin(1)	3	c.(463-465)CTT>CTC			Gene3D:1.20.1070.10,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF42,Superfamily_domains:SSF81321	olfactory receptor, family 10, subfamily R,				ENSP00000357134		1-Jan									COSM3399843	1-Jan	.		ENST00000368152	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000198965	g.chr1:158450132T>C	14820			LOW								--	--	1																																		uc001fso.1_RNA	1	1			p.L155L	NM_001004472	NP_001004472			1	O10R2_HUMAN	OR10R2	HGNC	Q8NGX6	O10R2_HUMAN					1	465	+	all_hematologic(112;0.0378)		UPI000004CA1C	155			Cytoplasmic (Potential).		SNV	OR10R2,synonymous_variant,p.=,ENST00000368152,NM_001004472.1;RP11-144L1.4,non_coding_transcript_exon_variant,,ENST00000419738,;RP11-144L1.4,intron_variant,,ENST00000426251,;	uc010pik.1	c.465T>C	465/1008	4	4			c.465T>C						1	SNP	c.(463-465)CTT>CTC	43	43			pancreas(2)|skin(1)	3	Broad	olfactory receptor, family 10, subfamily R,			158450132		0.473	ENSG00000198965	10725	g.chr1:158450132T>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-62.404721	KEEP	0	4	-1	130	157	0	4	-1	7.142513	130	157	0.015385	1	0	0	0	0	0	0	1	0	--	--		0	C			uc001fso.1_RNA	236	GBM-32-2494-TP	p.L155L	T	ACCCCACTCTTATGAGCTGGC	NM_001004472	NP_001004472	158450132	Q8NGX6	O10R2_HUMAN	0			1	465	+	C	C	all_hematologic(112;0.0378)		Silent	155			Cytoplasmic (Potential).			
OR10S1	219873	broad.mit.edu	GRCh37	11	123847740	123847740	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0128-01	TCGA-06-0128-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000531945.1:c.659T>C	p.Val220Ala	p.V220A	ENST00000531945	NM_001004474.1	220	gTg/gCg	0			1			G	V/A	uc001pzm.1	protein_coding	YES	CCDS31701.1			659/996									ovary(1)|skin(1)	2	c.(658-660)GTG>GCG			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF205,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 10, subfamily S,				ENSP00000431914		1-Jan									COSM1676540	1-Jan	.		ENST00000531945	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000196248	g.chr11:123847740A>G	14807			MODERATE		1.98	medium	getma.org/?cm=msa&ty=f&p=O10S1_HUMAN&rb=153&re=295&var=V220A	NA	getma.org/?cm=var&var=hg19,11,123847740,A,G&fts=all	V220A	--	--	1																																			1	1		probably_damaging(0.998)	p.V220A	NM_001004474	NP_001004474		deleterious(0.01)	1	O10S1_HUMAN	OR10S1	HGNC	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)			1	659	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	UPI00001A7787	220			Helical; Name=5; (Potential).		SNV	OR10S1,missense_variant,p.Val220Ala,ENST00000531945,NM_001004474.1;	uc001pzm.1	c.659T>C	749/1121	3	3			c.659T>C						11	SNP	c.(658-660)GTG>GCG	16	16			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 10, subfamily S,			123847740		0.562	ENSG00000196248	10726	g.chr11:123847740A>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-12.342282	KEEP	2	3	-1	62	54	2	3	-1	6.746039	62	54	0.036585	1	0	0	0	0	1	0	0	0	--	--		0	G				14	GBM-06-0128-TP	p.V220A	A	GCCTGCAGCCACGATGCCAAT	NM_001004474	NP_001004474	123847740	Q8NGN2	O10S1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	659	-	G	G		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	Missense_Mutation	220			Helical; Name=5; (Potential).			
OR10S1	219873	broad.mit.edu	GRCh37	11	123847486	123847486	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01	TCGA-06-2559-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000531945.1:c.913C>T	p.Arg305Trp	p.R305W	ENST00000531945	NM_001004474.1	305	Cgg/Tgg	0			1			A	R/W	uc001pzm.1	protein_coding	YES	CCDS31701.1			913/996									ovary(1)|skin(1)	2	c.(913-915)CGG>TGG			Transmembrane_helices:TMhelix,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF205,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245,Prints_domain:PR00237	olfactory receptor, family 10, subfamily S,				ENSP00000431914		1-Jan	2.47E-05	9.65E-05		0.000116	0.000151				rs771347462,COSM2152696	1-Jan	.		ENST00000531945	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000196248	g.chr11:123847486G>A	14807			MODERATE		2.33	medium	getma.org/?cm=msa&ty=f&p=O10S1_HUMAN&rb=296&re=331&var=R305W	NA	getma.org/?cm=var&var=hg19,11,123847486,G,A&fts=all	R305W	--	--	1																																			0,1	1		probably_damaging(0.999)	p.R305W	NM_001004474	NP_001004474		deleterious(0)	0,1	O10S1_HUMAN	OR10S1	HGNC	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)			1	913	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	UPI00001A7787	305			Cytoplasmic (Potential).		SNV	OR10S1,missense_variant,p.Arg305Trp,ENST00000531945,NM_001004474.1;	uc001pzm.1	c.913C>T	1003/1121	2	2			c.913C>T						11	SNP	c.(913-915)CGG>TGG	47	47			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 10, subfamily S,			123847486		0.527	ENSG00000196248	10726	g.chr11:123847486G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							96.242366	KEEP	19	21	-1	68	73	19	21	-1	107.65132	68	73	0.229412	1	0	0	0	0	1	0	0	0	--	--		0	A				83	GBM-06-2559-TP	p.R305W	G	TCCTTGTTCCGCAAAGTGTAA	NM_001004474	NP_001004474	123847486	Q8NGN2	O10S1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	913	-	A	A		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	Missense_Mutation	305			Cytoplasmic (Potential).			
OR10S1	0	broad.mit.edu	GRCh37	11	123847863	123847863	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs141270826		TCGA-41-4097-01	TCGA-41-4097-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000531945.1:c.536G>A	p.Arg179His	p.R179H	ENST00000531945	NM_001004474.1	179	cGc/cAc	0	T:0		1			T	R/H	uc001pzm.1	protein_coding	YES	CCDS31701.1			536/996									ovary(1)|skin(1)	2	c.(535-537)CGC>CAC			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF205,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 10, subfamily S,			T:0.0001	ENSP00000431914		1-Jan	2.47E-05					3.00E-05	0.0011		rs141270826,COSM3397506	1-Jan	.		ENST00000531945	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000196248	g.chr11:123847863C>T	14807			MODERATE		0.295	neutral	getma.org/?cm=msa&ty=f&p=O10S1_HUMAN&rb=153&re=295&var=R179H	NA	getma.org/?cm=var&var=hg19,11,123847863,C,T&fts=all	R179H	--	--	1																																			0,1	1		benign(0.006)	p.R179H	NM_001004474	NP_001004474		tolerated(0.29)	0,1	O10S1_HUMAN	OR10S1	HGNC	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)			1	536	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	UPI00001A7787	179			Extracellular (Potential).		SNV	OR10S1,missense_variant,p.Arg179His,ENST00000531945,NM_001004474.1;	uc001pzm.1	c.536G>A	626/1121	1	1			c.536G>A						11	SNP	c.(535-537)CGC>CAC	16	16			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 10, subfamily S,			123847863		0.552	ENSG00000196248	10726	g.chr11:123847863C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							29.903782	KEEP	5	11	-1	20	47	5	11	-1	36.169366	20	47	0.2	1	0	0	0	0	1	0	0	0	--	--		0	T				257	GBM-41-4097-TP	p.R179H	C	GTAGAGCAGGCGGAAGGTGAG	NM_001004474	NP_001004474	123847863	Q8NGN2	O10S1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	536	-	T	T		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	Missense_Mutation	179			Extracellular (Potential).			
OR10V1	390201	broad.mit.edu	GRCh37	11	59481032	59481032	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs144835634		TCGA-02-2470-01	TCGA-02-2470-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307552.2:c.287C>T	p.Thr96Met	p.T96M	ENST00000307552	NM_001005324.1	96	aCg/aTg	0	A:0.0002		1			A	T/M	uc001nof.1	protein_coding	YES	CCDS31565.1			287/930										0	c.(286-288)ACG>ATG			PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF263,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	olfactory receptor, family 10, subfamily V,			A:0	ENSP00000302199		1-Jan	8.24E-06	9.62E-05							rs144835634,COSM2149111	1-Jan	.		ENST00000307552	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000172289	g.chr11:59481032G>A	15136			MODERATE		0.58	neutral	getma.org/?cm=msa&ty=f&p=O10V1_HUMAN&rb=1&re=139&var=T96M	getma.org/pdb.php?prot=O10V1_HUMAN&from=1&to=139&var=T96M	getma.org/?cm=var&var=hg19,11,59481032,G,A&fts=all	T96M	--	--	1																																			0,1	1		benign(0.207)	p.T96M	NM_001005324	NP_001005324		tolerated(0.16)	0,1	O10V1_HUMAN	OR10V1	HGNC	Q8NGI7	O10V1_HUMAN					1	287	-			UPI0000061EC8	96			Extracellular (Potential).		SNV	OR10V1,missense_variant,p.Thr96Met,ENST00000307552,NM_001005324.1;STX3,5_prime_UTR_variant,,ENST00000300150,;	uc001nof.1	c.287C>T	306/1042	1	1			c.287C>T						11	SNP	c.(286-288)ACG>ATG	64	64				0	Broad	olfactory receptor, family 10, subfamily V,			59481032		0.473	ENSG00000172289	10728	g.chr11:59481032G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							30.47735	KEEP	7	5	-1	24	15	7	5	-1	32.859728	24	15	0.26087	1	0	0	0	0	1	0	0	0	--	--		0	A				5	GBM-02-2470-TP	p.T96M	G	GCCACATCCCGTGATGGAAAC	NM_001005324	NP_001005324	59481032	Q8NGI7	O10V1_HUMAN	0			1	287	-	A	A			Missense_Mutation	96			Extracellular (Potential).			
OR10V1	0	broad.mit.edu	GRCh37	11	59480721	59480721	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0786-01	TCGA-14-0786-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307552.2:c.598C>T	p.Leu200=	p.L200=	ENST00000307552	NM_001005324.1	200	Ctg/Ttg	0			1			A	L	uc001nof.1	protein_coding	YES	CCDS31565.1			598/930										0	c.(598-600)CTG>TTG			PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF263,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 10, subfamily V,				ENSP00000302199		1-Jan									COSM3397928	1-Jan	.		ENST00000307552	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000172289	g.chr11:59480721G>A	15136			LOW								--	--	1																																			1	1			p.L200L	NM_001005324	NP_001005324			1	O10V1_HUMAN	OR10V1	HGNC	Q8NGI7	O10V1_HUMAN					1	598	-			UPI0000061EC8	200			Helical; Name=5; (Potential).		SNV	OR10V1,synonymous_variant,p.=,ENST00000307552,NM_001005324.1;STX3,upstream_gene_variant,,ENST00000300150,;	uc001nof.1	c.598C>T	617/1042	1	1			c.598C>T						11	SNP	c.(598-600)CTG>TTG	55	55				0	Broad	olfactory receptor, family 10, subfamily V,			59480721		0.498	ENSG00000172289	10728	g.chr11:59480721G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							131.884645	KEEP	27	19	-1	29	45	27	19	-1	133.092322	29	45	0.389381	1	0	0	0	0	0	0	1	0	--	--		0	A				134	GBM-14-0786-TP	p.L200L	G	ATGATATACAGAGCAGTCTTG	NM_001005324	NP_001005324	59480721	Q8NGI7	O10V1_HUMAN	0			1	598	-	A	A			Silent	200			Helical; Name=5; (Potential).			
OR10X1	128367		GRCh37	1	158549258	158549258	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000368150.1:c.432C>T	p.Asn144=	p.N144=	ENST00000368150	NM_001004477.1	144	aaC/aaT	0																																																																																																																																																																																																																																												
OR10Z1	128368	broad.mit.edu	GRCh37	1	158577031	158577032	+	frameshift_variant	Frame_Shift_Del	DEL	TT	TT	-			TCGA-06-0209-01	TCGA-06-0209-01	TT	TT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361284.1:c.803_804del	p.Leu268ArgfsTer18	p.L268Rfs*18	ENST00000361284	NM_001004478.1	268	cTT/c	0	-:0		1			-	L/X	uc010pio.1	protein_coding	YES	CCDS30901.1			803-804/942									pancreas(1)|skin(1)	2	c.(802-804)CTTfs			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF49,Superfamily_domains:SSF81321	olfactory receptor, family 10, subfamily Z,			-:0.0006	ENSP00000354707		1-Jan	0.000585	9.61E-05	0.000346			0.00051	0.0022	0.00182	rs764563224	1-Jan	common_variant		ENST00000361284	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000198967	g.chr1:158577031_158577032delTT	14996			HIGH								--	--	1																																				1			p.L268fs	NM_001004478	NP_001004478				O10Z1_HUMAN	OR10Z1	HGNC	Q8NGY1	O10Z1_HUMAN					1	803_804	+	all_hematologic(112;0.0378)		UPI000004CA23	268			Extracellular (Potential).		deletion	OR10Z1,frameshift_variant,p.Leu268ArgfsTer18,ENST00000361284,NM_001004478.1;SPTA1,downstream_gene_variant,,ENST00000368147,NM_003126.2;SPTA1,downstream_gene_variant,,ENST00000485680,;	uc010pio.1	c.803_804delTT	803-804/942	5	5			c.803_804delTT						1	DEL	c.(802-804)CTTfs	16	16			pancreas(1)|skin(1)	2	Broad	olfactory receptor, family 10, subfamily Z,			158577032		0.47	ENSG00000198967	10731	g.chr1:158577031_158577032delTT	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity																				0.01	1	1	0	1	0	0	0	0	0	--	--		0	-				46	GBM-06-0209-TP	p.L268fs	TT	AGCTACTCTCTTGAGAGAGATC	NM_001004478	NP_001004478	158577031	Q8NGY1	O10Z1_HUMAN	0			1	803_804	+	-	-	all_hematologic(112;0.0378)		Frame_Shift_Del	268			Extracellular (Potential).			
OR10Z1	128368	broad.mit.edu	GRCh37	1	158577000	158577000	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0238-01	TCGA-06-0238-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361284.1:c.772G>A	p.Val258Met	p.V258M	ENST00000361284	NM_001004478.1	258	Gtg/Atg	0	A:0.0002		1			A	V/M	uc010pio.1	protein_coding	YES	CCDS30901.1			772/942									pancreas(1)|skin(1)	2	c.(772-774)GTG>ATG			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF49,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 10, subfamily Z,			A:0	ENSP00000354707		1-Jan	1.65E-05					3.00E-05			rs191031344,COSM2151101	1-Jan	.		ENST00000361284	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000198967	g.chr1:158577000G>A	14996			MODERATE		0.6	neutral	getma.org/?cm=msa&ty=f&p=O10Z1_HUMAN&rb=139&re=283&var=V258M	NA	getma.org/?cm=var&var=hg19,1,158577000,G,A&fts=all	V258M	--	--	1																																			0,1	1		benign(0)	p.V258M	NM_001004478	NP_001004478		tolerated(0.29)	0,1	O10Z1_HUMAN	OR10Z1	HGNC	Q8NGY1	O10Z1_HUMAN					1	772	+	all_hematologic(112;0.0378)		UPI000004CA23	258			Helical; Name=6; (Potential).		SNV	OR10Z1,missense_variant,p.Val258Met,ENST00000361284,NM_001004478.1;SPTA1,downstream_gene_variant,,ENST00000368147,NM_003126.2;SPTA1,downstream_gene_variant,,ENST00000485680,;	uc010pio.1	c.772G>A	772/942	2	2			c.772G>A						1	SNP	c.(772-774)GTG>ATG	34	34			pancreas(1)|skin(1)	2	Broad	olfactory receptor, family 10, subfamily Z,			158577000		0.493	ENSG00000198967	10731	g.chr1:158577000G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							344.43859	KEEP	70	69	-1	128	123	70	69	-1	351.311701	128	123	0.350427	1	0	0	0	0	1	0	0	0	--	--		0	A				55	GBM-06-0238-TP	p.V258M	G	TGCTTCCTTCGTGTACCTGAG	NM_001004478	NP_001004478	158577000	Q8NGY1	O10Z1_HUMAN	0			1	772	+	A	A	all_hematologic(112;0.0378)		Missense_Mutation	258			Helical; Name=6; (Potential).			
OR10Z1	0	broad.mit.edu	GRCh37	1	158576316	158576316	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-14-0813-01	TCGA-14-0813-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361284.1:c.88T>C	p.Leu30=	p.L30=	ENST00000361284	NM_001004478.1	30	Ttg/Ctg	0			1			C	L	uc010pio.1	protein_coding	YES	CCDS30901.1			88/942									pancreas(1)|skin(1)	2	c.(88-90)TTG>CTG			Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF49,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 10, subfamily Z,				ENSP00000354707		1-Jan									COSM3399845	1-Jan	.		ENST00000361284	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000198967	g.chr1:158576316T>C	14996			LOW								--	--	1																																			1	1			p.L30L	NM_001004478	NP_001004478			1	O10Z1_HUMAN	OR10Z1	HGNC	Q8NGY1	O10Z1_HUMAN					1	88	+	all_hematologic(112;0.0378)		UPI000004CA23	30			Helical; Name=1; (Potential).		SNV	OR10Z1,synonymous_variant,p.=,ENST00000361284,NM_001004478.1;SPTA1,downstream_gene_variant,,ENST00000368147,NM_003126.2;SPTA1,downstream_gene_variant,,ENST00000485680,;	uc010pio.1	c.88T>C	88/942	3	3			c.88T>C						1	SNP	c.(88-90)TTG>CTG	54	54			pancreas(1)|skin(1)	2	Broad	olfactory receptor, family 10, subfamily Z,			158576316		0.502	ENSG00000198967	10731	g.chr1:158576316T>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-25.880287	KEEP	7	4	-1	157	89	7	4	-1	26.963049	157	89	0.045833	1	0	0	0	0	0	0	1	0	--	--		0	C				138	GBM-14-0813-TP	p.L30L	T	TCTCTTTGCCTTGTTCCTCTC	NM_001004478	NP_001004478	158576316	Q8NGY1	O10Z1_HUMAN	0			1	88	+	C	C	all_hematologic(112;0.0378)		Silent	30			Helical; Name=1; (Potential).			
OR11G2	0	broad.mit.edu	GRCh37	14	20666093	20666093	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-26-5133-01	TCGA-26-5133-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357366.3:c.599A>G	p.Asn200Ser	p.N200S	ENST00000357366	NM_001005503.1	200	aAc/aGc	0			1			G	N/S	uc010tlb.1	protein_coding	YES	CCDS32032.1			599/1038									ovary(1)|skin(1)	2	c.(598-600)AAC>AGC			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF183,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 11, subfamily G,				ENSP00000349930		1-Jan									COSM3401194	1-Jan	.		ENST00000357366	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000196832	g.chr14:20666093A>G	15346			MODERATE		-0.385	neutral	getma.org/?cm=msa&ty=f&p=O11G2_HUMAN&rb=177&re=321&var=N200S	NA	getma.org/?cm=var&var=hg19,14,20666093,A,G&fts=all	N200S	--	--	1																																			1	1		benign(0)	p.N200S	NM_001005503	NP_001005503		deleterious(0.01)	1	O11G2_HUMAN	OR11G2	HGNC	Q8NGC1	O11G2_HUMAN	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)			1	599	+	all_cancers(95;0.00108)		UPI000015F241	200			Helical; Name=4; (Potential).		SNV	OR11G2,missense_variant,p.Asn200Ser,ENST00000357366,NM_001005503.1;	uc010tlb.1	c.599A>G	599/1111	3	3			c.599A>G						14	SNP	c.(598-600)AAC>AGC	3	3			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 11, subfamily G,			20666093		0.448	ENSG00000196832	10733	g.chr14:20666093A>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							18.491976	KEEP	3	7	-1	39	37	3	7	-1	30.212305	39	37	0.120482	1	0	0	0	0	1	0	0	0	--	--		0	G				182	GBM-26-5133-TP	p.N200S	A	CCTATCGTCAACATCTCCCAA	NM_001005503	NP_001005503	20666093	Q8NGC1	O11G2_HUMAN	0	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	599	+	G	G	all_cancers(95;0.00108)		Missense_Mutation	200			Helical; Name=4; (Potential).			
OR11G2	0	broad.mit.edu	GRCh37	14	20665689	20665689	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-41-3392-01	TCGA-41-3392-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357366.3:c.195C>G	p.Leu65=	p.L65=	ENST00000357366	NM_001005503.1	65	ctC/ctG	0			1			G	L	uc010tlb.1	protein_coding	YES	CCDS32032.1			195/1038									ovary(1)|skin(1)	2	c.(193-195)CTC>CTG			Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF183,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 11, subfamily G,				ENSP00000349930		1-Jan									COSM3401193	1-Jan	.		ENST00000357366	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000196832	g.chr14:20665689C>G	15346			LOW								--	--	1																																			1	1			p.L65L	NM_001005503	NP_001005503			1	O11G2_HUMAN	OR11G2	HGNC	Q8NGC1	O11G2_HUMAN	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)			1	195	+	all_cancers(95;0.00108)		UPI000015F241	65			Helical; Name=1; (Potential).		SNV	OR11G2,synonymous_variant,p.=,ENST00000357366,NM_001005503.1;	uc010tlb.1	c.195C>G	195/1111	3	3			c.195C>G						14	SNP	c.(193-195)CTC>CTG	1	1			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 11, subfamily G,			20665689		0.552	ENSG00000196832	10733	g.chr14:20665689C>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							56.179432	KEEP	10	10	-1	46	25	10	10	-1	62.152097	46	25	0.223529	1	0	0	0	0	0	0	1	0	--	--		0	G				254	GBM-41-3392-TP	p.L65L	C	AGATCCTCCTCTTTGTGCTCT	NM_001005503	NP_001005503	20665689	Q8NGC1	O11G2_HUMAN	0	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	195	+	G	G	all_cancers(95;0.00108)		Silent	65			Helical; Name=1; (Potential).			
OR11H12	440153		GRCh37	14	19378054	19378054	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000550708.1:c.461A>C	p.His154Pro	p.H154P	ENST00000550708	NM_001013354.1	154	cAt/cCt	0																																																																																																																																																																																																																																												
OR11H12	440153		GRCh37	14	19378054	19378054	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000550708.1:c.461A>C	p.His154Pro	p.H154P	ENST00000550708	NM_001013354.1	154	cAt/cCt	0																																																																																																																																																																																																																																												
OR11H6	122748	broad.mit.edu	GRCh37	14	20692418	20692418	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-2563-01	TCGA-06-2563-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315519.2:c.550C>A	p.Leu184Ile	p.L184I	ENST00000315519	NM_001004480.1	184	Ctt/Att	0			1			A	L/I	uc010tlc.1	protein_coding	YES	CCDS32033.1			550/993									ovary(2)|skin(1)	3	c.(550-552)CTT>ATT			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF90,Superfamily_domains:SSF81321	olfactory receptor, family 11, subfamily H,				ENSP00000319071		1-Jan									COSM2152869	1-Jan	.		ENST00000315519	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000176219	g.chr14:20692418C>A	15349			MODERATE		2.725	medium	getma.org/?cm=msa&ty=f&p=O11H6_HUMAN&rb=157&re=301&var=L184I	NA	getma.org/?cm=var&var=hg19,14,20692418,C,A&fts=all	L184I	--	--	1																																			1	1		probably_damaging(1)	p.L184I	NM_001004480	NP_001004480		deleterious(0.01)	1	O11H6_HUMAN	OR11H6	HGNC	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)			1	550	+	all_cancers(95;0.00108)		UPI000004B1F1	184			Extracellular (Potential).		SNV	OR11H6,missense_variant,p.Leu184Ile,ENST00000315519,NM_001004480.1;	uc010tlc.1	c.550C>A	628/1174	1	1			c.550C>A						14	SNP	c.(550-552)CTT>ATT	64	64			ovary(2)|skin(1)	3	Broad	olfactory receptor, family 11, subfamily H,			20692418		0.507	ENSG00000176219	10737	g.chr14:20692418C>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							135.056727	KEEP	24	20	0.454545455	13	22	24	20	0.454545455	135.291762	13	22	0.56	1	0	0	0	0	1	0	0	0	--	--		0	A				86	GBM-06-2563-TP	p.L184I	C	TATCTCCCAACTTCCCTTCTG	NM_001004480	NP_001004480	20692418	Q8NGC7	O11H6_HUMAN	0	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	550	+	A	A	all_cancers(95;0.00108)		Missense_Mutation	184			Extracellular (Potential).			
OR12D2	0	broad.mit.edu	GRCh37	6	29364964	29364964	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01	TCGA-26-5135-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000383555.2:c.488G>A	p.Arg163His	p.R163H	ENST00000383555	NM_013936.3	163	cGc/cAc	0			1			A	R/H	uc003nmf.3	protein_coding	YES	CCDS4659.1			488/924									ovary(1)	1	c.(487-489)CGC>CAC			PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF52,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 12, subfamily D,				ENSP00000373047		1-Jan									COSM3410882	1-Jan	.		ENST00000383555	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000168787	g.chr6:29364964G>A	8178			MODERATE		1.155	low	getma.org/?cm=msa&ty=f&p=O12D2_HUMAN&rb=137&re=282&var=R163H	NA	getma.org/?cm=var&var=hg19,6,29364964,G,A&fts=all	R163H	--	--	1																																			1	1		benign(0.032)	p.R163H	NM_013936	NP_039224		tolerated(0.34)	1	O12D2_HUMAN	OR12D2	HGNC	P58182	O12D2_HUMAN					1	549	+			UPI00001406A8	163			Extracellular (Potential).		SNV	OR12D2,missense_variant,p.Arg163His,ENST00000383555,NM_013936.3;OR5V1,intron_variant,,ENST00000377154,;	uc003nmf.3	c.488G>A	549/1033	1	1			c.488G>A						6	SNP	c.(487-489)CGC>CAC	64	64			ovary(1)	1	Broad	olfactory receptor, family 12, subfamily D,			29364964		0.468	ENSG00000168787	10739	g.chr6:29364964G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-59.239261	KEEP	5	1	-1	135	156	5	1	-1	10.069166	135	156	0.022059	1	0	0	0	0	1	0	0	0	--	--		0	A				184	GBM-26-5135-TP	p.R163H	G	ATGACTTCTCGCTTGAACTTC	NM_013936	NP_039224	29364964	P58182	O12D2_HUMAN	0			1	549	+	A	A			Missense_Mutation	163			Extracellular (Potential).			
OR12D2	26529		GRCh37	6	29364556	29364556	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000383555.2:c.80T>C	p.Val27Ala	p.V27A	ENST00000383555	NM_013936.3	27	gTg/gCg	0																																																																																																																																																																																																																																												
OR13C3	138803	broad.mit.edu	GRCh37	9	107298585	107298585	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0939-01	TCGA-06-0939-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374781.2:c.510G>A	p.Ala170=	p.A170=	ENST00000374781	NM_001001961.1	170	gcG/gcA	0			1			T	A	uc004bcb.1	protein_coding	YES	CCDS35089.1			510/1044									pancreas(1)	1	c.(508-510)GCG>GCA			Gene3D:1.20.1070.10,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF34,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 13, subfamily C,				ENSP00000363913		1-Jan	0.000115	0.000192		0.000116		0.000135	0.0011	6.06E-05	rs200973865,COSM1755854	1-Jan	.		ENST00000374781	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000204246	g.chr9:107298585C>T	14704			LOW								--	--	1																																			0,1	1			p.A170A	NM_001001961	NP_001001961			0,1	O13C3_HUMAN	OR13C3	HGNC	Q8NGS6	O13C3_HUMAN					1	510	-			UPI000015F232	170			Helical; Name=4; (Potential).		SNV	OR13C3,synonymous_variant,p.=,ENST00000374781,NM_001001961.1;	uc004bcb.1	c.510G>A	553/1108	1	1			c.510G>A						9	SNP	c.(508-510)GCG>GCA	9	9			pancreas(1)	1	Broad	olfactory receptor, family 13, subfamily C,			107298585		0.468	ENSG00000204246	10743	g.chr9:107298585C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	GBM(86;1248 1274 14222 15028 46219)			GBM(86;1248 1274 14222 15028 46219)			-65.365354	KEEP	10	3	-1	212	201	10	3	-1	19.319879	212	201	0.03125	1	0	0	0	0	0	0	1	0	--	--		0	T				78	GBM-06-0939-TP	p.A170A	C	TCAATACATACGCCACCTTGC	NM_001001961	NP_001001961	107298585	Q8NGS6	O13C3_HUMAN	0			1	510	-	T	T			Silent	170			Helical; Name=4; (Potential).			
OR13C3	0	broad.mit.edu	GRCh37	9	107298263	107298263	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-2494-01	TCGA-32-2494-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374781.2:c.832G>T	p.Val278Leu	p.V278L	ENST00000374781	NM_001001961.1	278	Gtg/Ttg	0			1			A	V/L	uc004bcb.1	protein_coding	YES	CCDS35089.1			832/1044									pancreas(1)	1	c.(832-834)GTG>TTG			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF34,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 13, subfamily C,				ENSP00000363913		1-Jan									COSM3413213	1-Jan	.		ENST00000374781	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000204246	g.chr9:107298263C>A	14704			MODERATE		3.23	medium	getma.org/?cm=msa&ty=f&p=O13C3_HUMAN&rb=169&re=319&var=V278L	NA	getma.org/?cm=var&var=hg19,9,107298263,C,A&fts=all	V278L	--	--	1																																			1	1		possibly_damaging(0.734)	p.V278L	NM_001001961	NP_001001961		deleterious(0)	1	O13C3_HUMAN	OR13C3	HGNC	Q8NGS6	O13C3_HUMAN					1	832	-			UPI000015F232	278			Helical; Name=6; (Potential).		SNV	OR13C3,missense_variant,p.Val278Leu,ENST00000374781,NM_001001961.1;	uc004bcb.1	c.832G>T	875/1108	1	1			c.832G>T						9	SNP	c.(832-834)GTG>TTG	64	64			pancreas(1)	1	Broad	olfactory receptor, family 13, subfamily C,			107298263		0.418	ENSG00000204246	10743	g.chr9:107298263C>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	GBM(86;1248 1274 14222 15028 46219)			GBM(86;1248 1274 14222 15028 46219)			81.460163	KEEP	21	28	0.571428571	131	121	21	28	0.571428571	110.645825	131	121	0.161049	1	0	0	0	0	1	0	0	0	--	--		0	A				236	GBM-32-2494-TP	p.V278L	C	AATATGATCACCACAGTCAGG	NM_001001961	NP_001001961	107298263	Q8NGS6	O13C3_HUMAN	0			1	832	-	A	A			Missense_Mutation	278			Helical; Name=6; (Potential).			
OR13C4	138804	broad.mit.edu	GRCh37	9	107288808	107288808	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs139144967		TCGA-06-0881-01	TCGA-06-0881-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000277216.3:c.683C>T	p.Thr228Met	p.T228M	ENST00000277216	NM_001001919.1	228	aCg/aTg	0	A:0.0007		1			A	T/M	uc011lvn.1	protein_coding	YES	CCDS35088.1			683/957									skin(1)	1	c.(682-684)ACG>ATG			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF14,Superfamily_domains:SSF81321	olfactory receptor, family 13, subfamily C,			A:0.0001	ENSP00000277216		1-Jan	0.000181	0.00115	0.000173	0.000116		8.99E-05		6.06E-05	rs139144967,COSM3413211	1-Jan	common_variant		ENST00000277216	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000148136	g.chr9:107288808G>A	14722			MODERATE		-1.75	neutral	getma.org/?cm=msa&ty=f&p=O13C4_HUMAN&rb=139&re=289&var=T228M	NA	getma.org/?cm=var&var=hg19,9,107288808,G,A&fts=all	T228M	--	--	1																																			0,1	1		benign(0)	p.T228M	NM_001001919	NP_001001919		tolerated(0.14)	0,1	O13C4_HUMAN	OR13C4	HGNC	Q8NGS5	O13C4_HUMAN					1	683	-			UPI0000041B46	228			Cytoplasmic (Potential).		SNV	OR13C4,missense_variant,p.Thr228Met,ENST00000277216,NM_001001919.1;	uc011lvn.1	c.683C>T	683/957	1	1			c.683C>T						9	SNP	c.(682-684)ACG>ATG	62	62			skin(1)	1	Broad	olfactory receptor, family 13, subfamily C,			107288808		0.403	ENSG00000148136	10744	g.chr9:107288808G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-8.98055	KEEP	4	8	-1	101	74	4	8	-1	23.381265	101	74	0.066265	1	0	0	0	0	1	0	0	0	--	--		0	A				76	GBM-06-0881-TP	p.T228M	G	GGCCGAGTTCGTTCGCAAGAT	NM_001001919	NP_001001919	107288808	Q8NGS5	O13C4_HUMAN	0			1	683	-	A	A			Missense_Mutation	228			Cytoplasmic (Potential).			
OR13C4	0	broad.mit.edu	GRCh37	9	107289309	107289309	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-5220-01	TCGA-28-5220-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000277216.3:c.182T>C	p.Phe61Ser	p.F61S	ENST00000277216	NM_001001919.1	61	tTc/tCc	0			1			G	F/S	uc011lvn.1	protein_coding	YES	CCDS35088.1			182/957									skin(1)	1	c.(181-183)TTC>TCC			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF14,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 13, subfamily C,				ENSP00000277216		1-Jan									COSM3413212	1-Jan	.		ENST00000277216	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000148136	g.chr9:107289309A>G	14722			MODERATE		3.31	medium	getma.org/?cm=msa&ty=f&p=O13C4_HUMAN&rb=1&re=138&var=F61S	getma.org/pdb.php?prot=O13C4_HUMAN&from=1&to=138&var=F61S	getma.org/?cm=var&var=hg19,9,107289309,A,G&fts=all	F61S	--	--	1																																			1	1		probably_damaging(0.912)	p.F61S	NM_001001919	NP_001001919		deleterious(0)	1	O13C4_HUMAN	OR13C4	HGNC	Q8NGS5	O13C4_HUMAN					1	182	-			UPI0000041B46	61			Helical; Name=2; (Potential).		SNV	OR13C4,missense_variant,p.Phe61Ser,ENST00000277216,NM_001001919.1;	uc011lvn.1	c.182T>C	182/957	3	3			c.182T>C						9	SNP	c.(181-183)TTC>TCC	15	15			skin(1)	1	Broad	olfactory receptor, family 13, subfamily C,			107289309		0.418	ENSG00000148136	10744	g.chr9:107289309A>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-21.257976	KEEP	3	1	-1	55	64	3	1	-1	7.297302	55	64	0.026087	1	0	0	0	0	1	0	0	0	--	--		0	G				226	GBM-28-5220-TP	p.F61S	A	GCCCAGGAAGAAGTACATGGG	NM_001001919	NP_001001919	107289309	Q8NGS5	O13C4_HUMAN	0			1	182	-	G	G			Missense_Mutation	61			Helical; Name=2; (Potential).			
OR13C4	0	broad.mit.edu	GRCh37	9	107288582	107288582	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-41-4097-01	TCGA-41-4097-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000277216.3:c.909A>G	p.Val303=	p.V303=	ENST00000277216	NM_001001919.1	303	gtA/gtG	0			1			C	V	uc011lvn.1	protein_coding	YES	CCDS35088.1			909/957									skin(1)	1	c.(907-909)GTA>GTG			Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF14,Superfamily_domains:SSF81321	olfactory receptor, family 13, subfamily C,				ENSP00000277216		1-Jan									COSM3413210	1-Jan	.		ENST00000277216	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000148136	g.chr9:107288582T>C	14722			LOW								--	--	1																																			1	1			p.V303V	NM_001001919	NP_001001919			1	O13C4_HUMAN	OR13C4	HGNC	Q8NGS5	O13C4_HUMAN					1	909	-			UPI0000041B46	303			Cytoplasmic (Potential).		SNV	OR13C4,synonymous_variant,p.=,ENST00000277216,NM_001001919.1;	uc011lvn.1	c.909A>G	909/957	4	4			c.909A>G						9	SNP	c.(907-909)GTA>GTG	43	43			skin(1)	1	Broad	olfactory receptor, family 13, subfamily C,			107288582		0.373	ENSG00000148136	10744	g.chr9:107288582T>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							66.099334	KEEP	10	12	-1	32	55	10	12	-1	74.891126	32	55	0.203704	1	0	0	0	0	0	0	1	0	--	--		0	C				257	GBM-41-4097-TP	p.V303V	T	TAGCAGCTTTTACATCTTTAT	NM_001001919	NP_001001919	107288582	Q8NGS5	O13C4_HUMAN	0			1	909	-	C	C			Silent	303			Cytoplasmic (Potential).			
OR13C5	138799	broad.mit.edu	GRCh37	9	107361108	107361108	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0744-01	TCGA-06-0744-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374779.2:c.587A>T	p.Glu196Val	p.E196V	ENST00000374779	NM_001004482.1	196	gAg/gTg	0			1			A	E/V	uc011lvp.1	protein_coding	YES	CCDS35091.1			587/957									ovary(2)|pancreas(1)|skin(1)	4	c.(586-588)GAG>GTG			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF121,Superfamily_domains:SSF81321	olfactory receptor, family 13, subfamily C,				ENSP00000363911		1-Jan									COSM3413219	1-Jan	.		ENST00000374779	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000255800	g.chr9:107361108T>A	15100			MODERATE		1.125	low	getma.org/?cm=msa&ty=f&p=O13C5_HUMAN&rb=140&re=289&var=E196V	NA	getma.org/?cm=var&var=hg19,9,107361108,T,A&fts=all	E196V	--	--	1																																			1	1		probably_damaging(0.999)	p.E196V	NM_001004482	NP_001004482		tolerated(1)	1	O13C5_HUMAN	OR13C5	HGNC	Q8NGS8	O13C5_HUMAN					1	587	-			UPI0000041D12	196			Extracellular (Potential).		SNV	OR13C5,missense_variant,p.Glu196Val,ENST00000374779,NM_001004482.1;	uc011lvp.1	c.587A>T	681/1139	1	1			c.587A>T						9	SNP	c.(586-588)GAG>GTG	55	55			ovary(2)|pancreas(1)|skin(1)	4	Broad	olfactory receptor, family 13, subfamily C,			107361108		0.383	ENSG00000255800	10745	g.chr9:107361108T>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-42.27372	KEEP	2	2	-1	107	98	2	2	-1	6.787032	107	98	0.020942	1	0	0	0	0	1	0	0	0	--	--		0	A				66	GBM-06-0744-TP	p.E196V	T	CAGGATGAACTCATTGCCTGA	NM_001004482	NP_001004482	107361108	Q8NGS8	O13C5_HUMAN	0			1	587	-	A	A			Missense_Mutation	196			Extracellular (Potential).			
OR13C5	0	broad.mit.edu	GRCh37	9	107360795	107360795	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-14-1450-01	TCGA-14-1450-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374779.2:c.900C>A	p.Asn300Lys	p.N300K	ENST00000374779	NM_001004482.1	300	aaC/aaA	0			1			T	N/K	uc011lvp.1	protein_coding	YES	CCDS35091.1			900/957									ovary(2)|pancreas(1)|skin(1)	4	c.(898-900)AAC>AAA			Gene3D:1.20.1070.10,Prints_domain:PR00237,Prints_domain:PR00245,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF121,Superfamily_domains:SSF81321	olfactory receptor, family 13, subfamily C,				ENSP00000363911		1-Jan									COSM3748399	1-Jan	.		ENST00000374779	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000255800	g.chr9:107360795G>T	15100			MODERATE		4.505	high	getma.org/?cm=msa&ty=f&p=O13C5_HUMAN&rb=260&re=318&var=N300K	NA	getma.org/?cm=var&var=hg19,9,107360795,G,T&fts=all	N300K	--	--	1																																			1	1		probably_damaging(0.997)	p.N300K	NM_001004482	NP_001004482		deleterious(0)	1	O13C5_HUMAN	OR13C5	HGNC	Q8NGS8	O13C5_HUMAN					1	900	-			UPI0000041D12	300			Cytoplasmic (Potential).		SNV	OR13C5,missense_variant,p.Asn300Lys,ENST00000374779,NM_001004482.1;	uc011lvp.1	c.900C>A	994/1139	2	2			c.900C>A						9	SNP	c.(898-900)AAC>AAA	34	34			ovary(2)|pancreas(1)|skin(1)	4	Broad	olfactory receptor, family 13, subfamily C,			107360795		0.338	ENSG00000255800	10745	g.chr9:107360795G>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							12.760991	KEEP	4	6	0.4	19	32	4	6	0.4	19.413186	19	32	0.145455	1	0	0	0	0	1	0	0	0	--	--		0	T				145	GBM-14-1450-TP	p.N300K	G	TCACATCCTTGTTTCTAAGAC	NM_001004482	NP_001004482	107360795	Q8NGS8	O13C5_HUMAN	0			1	900	-	T	T			Missense_Mutation	300			Cytoplasmic (Potential).			
OR13C5	0	broad.mit.edu	GRCh37	9	107361451	107361452	+	frameshift_variant	Frame_Shift_Del	DEL	GC	GC	-			TCGA-19-5947-01	TCGA-19-5947-01	GC	GC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374779.2:c.243_244delGC	p.Leu82SerfsTer39	p.L82Sfs*39	ENST00000374779	NM_001004482.1	81	acGCta/acta	0			1			-	TL/TX	uc011lvp.1	protein_coding	YES	CCDS35091.1			243-244/957									ovary(2)|pancreas(1)|skin(1)	4	c.(241-246)ACGCTAfs			Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF121,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 13, subfamily C,				ENSP00000363911		1-Jan									rs377523807,COSM405117	1-Jan	.		ENST00000374779	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000255800	g.chr9:107361451_107361452delGC	15100			HIGH								--	--	1																																			0,1	1			p.T81fs	NM_001004482	NP_001004482			0,1	O13C5_HUMAN	OR13C5	HGNC	Q8NGS8	O13C5_HUMAN					1	243_244	-			UPI0000041D12	81_82			Extracellular (Potential).		deletion	OR13C5,frameshift_variant,p.Leu82SerfsTer39,ENST00000374779,NM_001004482.1;	uc011lvp.1	c.243_244delGC	337-338/1139	5	5			c.243_244delGC						9	DEL	c.(241-246)ACGCTAfs	32	32			ovary(2)|pancreas(1)|skin(1)	4	Broad	olfactory receptor, family 13, subfamily C,			107361452		0.51	ENSG00000255800	10745	g.chr9:107361451_107361452delGC	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity																				0.17	1	1	0	1	0	0	0	0	0	--	--		0	-				169	GBM-19-5947-TP	p.T81fs	GC	AAGCTCACTAGCGTGGAGGGAA	NM_001004482	NP_001004482	107361451	Q8NGS8	O13C5_HUMAN	0			1	243_244	-	-	-			Frame_Shift_Del	81_82			Extracellular (Potential).			
OR13C5	0	broad.mit.edu	GRCh37	9	107361451	107361452	+	frameshift_variant	Frame_Shift_Del	DEL	GC	GC	-			TCGA-28-5209-01	TCGA-28-5209-01	GC	GC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374779.2:c.243_244delGC	p.Leu82SerfsTer39	p.L82Sfs*39	ENST00000374779	NM_001004482.1	81	acGCta/acta	0			1			-	TL/TX	uc011lvp.1	protein_coding	YES	CCDS35091.1			243-244/957									ovary(2)|pancreas(1)|skin(1)	4	c.(241-246)ACGCTAfs			Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF121,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 13, subfamily C,				ENSP00000363911		1-Jan									rs377523807,COSM405117	1-Jan	.		ENST00000374779	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000255800	g.chr9:107361451_107361452delGC	15100			HIGH								--	--	1																																			0,1	1			p.T81fs	NM_001004482	NP_001004482			0,1	O13C5_HUMAN	OR13C5	HGNC	Q8NGS8	O13C5_HUMAN					1	243_244	-			UPI0000041D12	81_82			Extracellular (Potential).		deletion	OR13C5,frameshift_variant,p.Leu82SerfsTer39,ENST00000374779,NM_001004482.1;	uc011lvp.1	c.243_244delGC	337-338/1139	5	5			c.243_244delGC						9	DEL	c.(241-246)ACGCTAfs	32	32			ovary(2)|pancreas(1)|skin(1)	4	Broad	olfactory receptor, family 13, subfamily C,			107361452		0.51	ENSG00000255800	10745	g.chr9:107361451_107361452delGC	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity																				0.09	1	1	0	1	0	0	0	0	0	--	--		0	-				218	GBM-28-5209-TP	p.T81fs	GC	AAGCTCACTAGCGTGGAGGGAA	NM_001004482	NP_001004482	107361451	Q8NGS8	O13C5_HUMAN	0			1	243_244	-	-	-			Frame_Shift_Del	81_82			Extracellular (Potential).			
OR13C8	138802	broad.mit.edu	GRCh37	9	107332231	107332231	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2558-01	TCGA-06-2558-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335040.1:c.783G>A	p.Lys261=	p.K261=	ENST00000335040	NM_001004483.1	261	aaG/aaA	0			1			A	K	uc011lvo.1	protein_coding	YES	CCDS35090.1			783/963									ovary(1)|skin(1)	2	c.(781-783)AAG>AAA			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF87,Superfamily_domains:SSF81321	olfactory receptor, family 13, subfamily C,				ENSP00000334068		1-Jan									COSM3413216	1-Jan	.		ENST00000335040	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000186943	g.chr9:107332231G>A	15103			LOW								--	--	1																																			1	1			p.K261K	NM_001004483	NP_001004483			1	O13C8_HUMAN	OR13C8	HGNC	Q8NGS7	O13C8_HUMAN					1	783	+			UPI000004B203	261			Extracellular (Potential).		SNV	OR13C8,synonymous_variant,p.=,ENST00000335040,NM_001004483.1;	uc011lvo.1	c.783G>A	783/963	1	1			c.783G>A						9	SNP	c.(781-783)AAG>AAA	64	64			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 13, subfamily C,			107332231		0.453	ENSG00000186943	10746	g.chr9:107332231G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							0.613482	KEEP	11	4	-1	82	91	11	4	-1	32.368625	82	91	0.079545	1	0	0	0	0	0	0	1	0	--	--		0	A				82	GBM-06-2558-TP	p.K261K	G	TGTACGCAAAGCCTGAGTCTA	NM_001004483	NP_001004483	107332231	Q8NGS7	O13C8_HUMAN	0			1	783	+	A	A			Silent	261			Extracellular (Potential).			
OR13C8	138802	broad.mit.edu	GRCh37	9	107332296	107332296	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-5417-01	TCGA-06-5417-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335040.1:c.848T>C	p.Phe283Ser	p.F283S	ENST00000335040	NM_001004483.1	283	tTc/tCc	0			1			C	F/S	uc011lvo.1	protein_coding	YES	CCDS35090.1			848/963									ovary(1)|skin(1)	2	c.(847-849)TTC>TCC			Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF87,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 13, subfamily C,				ENSP00000334068		1-Jan									COSM3413217	1-Jan	.		ENST00000335040	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000186943	g.chr9:107332296T>C	15103			MODERATE		2.085	medium	getma.org/?cm=msa&ty=f&p=O13C8_HUMAN&rb=139&re=289&var=F283S	NA	getma.org/?cm=var&var=hg19,9,107332296,T,C&fts=all	F283S	--	--	1																																			1	1		benign(0.212)	p.F283S	NM_001004483	NP_001004483		tolerated(0.19)	1	O13C8_HUMAN	OR13C8	HGNC	Q8NGS7	O13C8_HUMAN					1	848	+			UPI000004B203	283			Helical; Name=7; (Potential).		SNV	OR13C8,missense_variant,p.Phe283Ser,ENST00000335040,NM_001004483.1;	uc011lvo.1	c.848T>C	848/963	3	3			c.848T>C						9	SNP	c.(847-849)TTC>TCC	9	9			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 13, subfamily C,			107332296		0.408	ENSG00000186943	10746	g.chr9:107332296T>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							14.919524	KEEP	5	16	-1	101	112	5	16	-1	49.594561	101	112	0.085427	1	0	0	0	0	1	0	0	0	--	--		0	C				99	GBM-06-5417-TP	p.F283S	T	ATCTCCCTTTTCTATGGAGTG	NM_001004483	NP_001004483	107332296	Q8NGS7	O13C8_HUMAN	0			1	848	+	C	C			Missense_Mutation	283			Helical; Name=7; (Potential).			
OR13C8	0	broad.mit.edu	GRCh37	9	107331551	107331551	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-5222-01	TCGA-32-5222-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335040.1:c.103T>C	p.Tyr35His	p.Y35H	ENST00000335040	NM_001004483.1	35	Tac/Cac	0			1			C	Y/H	uc011lvo.1	protein_coding	YES	CCDS35090.1			103/963									ovary(1)|skin(1)	2	c.(103-105)TAC>CAC			Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF87,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 13, subfamily C,				ENSP00000334068		1-Jan									COSM3413215	1-Jan	.		ENST00000335040	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000186943	g.chr9:107331551T>C	15103			MODERATE		3.365	medium	getma.org/?cm=msa&ty=f&p=O13C8_HUMAN&rb=1&re=138&var=Y35H	getma.org/pdb.php?prot=O13C8_HUMAN&from=1&to=138&var=Y35H	getma.org/?cm=var&var=hg19,9,107331551,T,C&fts=all	Y35H	--	--	1																																			1	1		possibly_damaging(0.824)	p.Y35H	NM_001004483	NP_001004483		deleterious(0.02)	1	O13C8_HUMAN	OR13C8	HGNC	Q8NGS7	O13C8_HUMAN					1	103	+			UPI000004B203	35			Helical; Name=1; (Potential).		SNV	OR13C8,missense_variant,p.Tyr35His,ENST00000335040,NM_001004483.1;	uc011lvo.1	c.103T>C	103/963	3	3			c.103T>C						9	SNP	c.(103-105)TAC>CAC	1	1			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 13, subfamily C,			107331551		0.443	ENSG00000186943	10746	g.chr9:107331551T>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							707.498439	KEEP	119	124	-1	191	208	119	124	-1	714.683143	191	208	0.38087	1	0	0	0	0	1	0	0	0	--	--		0	C				249	GBM-32-5222-TP	p.Y35H	T	TTTGTGGATGTACCTGATGAT	NM_001004483	NP_001004483	107331551	Q8NGS7	O13C8_HUMAN	0			1	103	+	C	C			Missense_Mutation	35			Helical; Name=1; (Potential).			
OR13C8	138802		GRCh37	9	107331658	107331658	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000335040.1:c.210C>T	p.Asp70=	p.D70=	ENST00000335040	NM_001004483.1	70	gaC/gaT	0																																																																																																																																																																																																																																												
OR13C9	0	broad.mit.edu	GRCh37	9	107379535	107379535	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-3650-01	TCGA-12-3650-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259362.1:c.951C>T	p.Ser317=	p.S317=	ENST00000259362	NM_001001956.1	317	agC/agT	0			1			A	S	uc011lvr.1	protein_coding	YES	CCDS35093.1			951/957										0	c.(949-951)AGC>AGT			hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF143	olfactory receptor, family 13, subfamily C,				ENSP00000259362		1-Jan									COSM3413220	1-Jan	.		ENST00000259362	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000136839	g.chr9:107379535G>A	15104			LOW								--	--	1																																			1	1			p.S317S	NM_001001956	NP_001001956			1	O13C9_HUMAN	OR13C9	HGNC	Q8NGT0	O13C9_HUMAN			Q8NGV4_HUMAN		1	951	-			UPI0000041D56	317			Cytoplasmic (Potential).		SNV	OR13C9,synonymous_variant,p.=,ENST00000259362,NM_001001956.1;	uc011lvr.1	c.951C>T	951/957	2	2			c.951C>T						9	SNP	c.(949-951)AGC>AGT	30	30				0	Broad	olfactory receptor, family 13, subfamily C,			107379535		0.353	ENSG00000136839	10747	g.chr9:107379535G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							306.759555	KEEP	71	57	-1	118	86	71	57	-1	310.661831	118	86	0.376712	1	0	0	0	0	0	0	1	0	--	--		0	A				126	GBM-12-3650-TP	p.S317S	G	GCATTCACTTGCTAAAGAACC	NM_001001956	NP_001001956	107379535	Q8NGT0	O13C9_HUMAN	0			1	951	-	A	A			Silent	317			Cytoplasmic (Potential).			
OR13F1	138805	broad.mit.edu	GRCh37	9	107266629	107266629	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01	TCGA-06-0185-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334726.2:c.86C>T	p.Ala29Val	p.A29V	ENST00000334726	NM_001004485.1	29	gCg/gTg	0	T:0.0002	T:0.0008	1	T:0		T	A/V	uc011lvm.1	protein_coding	YES	CCDS35087.1			86/960									large_intestine(1)|ovary(1)|skin(1)	3	c.(85-87)GCG>GTG			Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF63,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 13, subfamily F,		T:0.001	T:0	ENSP00000334452	T:0.001	1-Jan	5.77E-05	0.000288		0.000347		1.50E-05			rs191015152,COSM1459064	1-Jan	.		ENST00000334726	Transcript		T:0.0006	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000186881	g.chr9:107266629C>T	14723			MODERATE		-1.485	neutral	getma.org/?cm=msa&ty=f&p=O13F1_HUMAN&rb=1&re=138&var=A29V	getma.org/pdb.php?prot=O13F1_HUMAN&from=1&to=138&var=A29V	getma.org/?cm=var&var=hg19,9,107266629,C,T&fts=all	A29V	--	--	1																																			0,1	1		benign(0)	p.A29V	NM_001004485	NP_001004485	T:0	tolerated(1)	0,1	O13F1_HUMAN	OR13F1	HGNC	Q8NGS4	O13F1_HUMAN					1	86	+			UPI0000041B47	29			Helical; Name=1; (Potential).		SNV	OR13F1,missense_variant,p.Ala29Val,ENST00000334726,NM_001004485.1;	uc011lvm.1	c.86C>T	175/1093	2	2			c.86C>T						9	SNP	c.(85-87)GCG>GTG	41	41			large_intestine(1)|ovary(1)|skin(1)	3	Broad	olfactory receptor, family 13, subfamily F,			107266629		0.418	ENSG00000186881	10749	g.chr9:107266629C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-16.768141	KEEP	9	10	-1	146	115	9	10	-1	31.553666	146	115	0.065041	1	0	0	0	0	1	0	0	0	--	--		0	T				40	GBM-06-0185-TP	p.A29V	C	ATCATATTTGCGGTGTGCTTG	NM_001004485	NP_001004485	107266629	Q8NGS4	O13F1_HUMAN	0			1	86	+	T	T			Missense_Mutation	29			Helical; Name=1; (Potential).			
OR13F1	0	broad.mit.edu	GRCh37	9	107267210	107267210	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-81-5910-01	TCGA-81-5910-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334726.2:c.667G>A	p.Ala223Thr	p.A223T	ENST00000334726	NM_001004485.1	223	Gcc/Acc	0			1			A	A/T	uc011lvm.1	protein_coding	YES	CCDS35087.1			667/960									large_intestine(1)|ovary(1)|skin(1)	3	c.(667-669)GCC>ACC			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF63,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 13, subfamily F,				ENSP00000334452		1-Jan	1.65E-05		0.000173						rs774810702,COSM3167695	1-Jan	.		ENST00000334726	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000186881	g.chr9:107267210G>A	14723			MODERATE		0.815	low	getma.org/?cm=msa&ty=f&p=O13F1_HUMAN&rb=139&re=283&var=A223T	NA	getma.org/?cm=var&var=hg19,9,107267210,G,A&fts=all	A223T	--	--	1																																			0,1	1		benign(0)	p.A223T	NM_001004485	NP_001004485		tolerated(0.18)	0,1	O13F1_HUMAN	OR13F1	HGNC	Q8NGS4	O13F1_HUMAN					1	667	+			UPI0000041B47	223			Cytoplasmic (Potential).		SNV	OR13F1,missense_variant,p.Ala223Thr,ENST00000334726,NM_001004485.1;	uc011lvm.1	c.667G>A	756/1093	2	2			c.667G>A						9	SNP	c.(667-669)GCC>ACC	43	43			large_intestine(1)|ovary(1)|skin(1)	3	Broad	olfactory receptor, family 13, subfamily F,			107267210		0.478	ENSG00000186881	10749	g.chr9:107267210G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							191.750785	KEEP	30	43	-1	41	64	30	43	-1	192.729368	41	64	0.417178	1	0	0	0	0	1	0	0	0	--	--		0	A				289	GBM-81-5910-TP	p.A223T	G	ATTTATCCTCGCCAGTATCCT	NM_001004485	NP_001004485	107267210	Q8NGS4	O13F1_HUMAN	0			1	667	+	A	A			Missense_Mutation	223			Cytoplasmic (Potential).			
OR13H1	347468	broad.mit.edu	GRCh37	X	130678349	130678349	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149527425	byFrequency	TCGA-06-0132-01	TCGA-06-0132-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338616.3:c.302C>T	p.Thr101Met	p.T101M	ENST00000338616	NM_001004486.1	101	aCg/aTg	0	T:0		1			T	T/M	uc011muw.1	protein_coding	YES	CCDS35396.1			302/927										0	c.(301-303)ACG>ATG			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF76,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	olfactory receptor, family 13, subfamily H,			T:0.0022	ENSP00000340748		1-Jan	0.00142					0.00269	0.00474		rs149527425,COSM2149566	1-Jan	common_variant		ENST00000338616	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000171054	g.chrX:130678349C>T	14755			MODERATE		-1.995	neutral	getma.org/?cm=msa&ty=f&p=O13H1_HUMAN&rb=1&re=139&var=T101M	getma.org/pdb.php?prot=O13H1_HUMAN&from=1&to=139&var=T101M	getma.org/?cm=var&var=hg19,X,130678349,C,T&fts=all	T101M	--	--	1																																		IGSF1_uc004ewf.2_Intron	0,1	1		benign(0.001)	p.T101M	NM_001004486	NP_001004486		tolerated(1)	0,1	O13H1_HUMAN	OR13H1	HGNC	Q8NG92	O13H1_HUMAN					1	302	+	Acute lymphoblastic leukemia(192;0.000636)		UPI000003CAC9	101			Helical; Name=3; (Potential).		SNV	OR13H1,missense_variant,p.Thr101Met,ENST00000338616,NM_001004486.1;	uc011muw.1	c.302C>T	400/1081	1	1			c.302C>T						23	SNP	c.(301-303)ACG>ATG	10	10				0	Broad	olfactory receptor, family 13, subfamily H,			130678349		0.517	ENSG00000171054	10751	g.chrX:130678349C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							53.041785	KEEP	16	10	-1	43	28	16	10	-1	57.844752	43	28	0.252874	1	0	0	0	0	1	0	0	0	--	--		0	T			IGSF1_uc004ewf.2_Intron	17	GBM-06-0132-TP	p.T101M	C	TTGGCTCAAACGAGTGTCTCC	NM_001004486	NP_001004486	130678349	Q8NG92	O13H1_HUMAN	0			1	302	+	T	T	Acute lymphoblastic leukemia(192;0.000636)		Missense_Mutation	101			Helical; Name=3; (Potential).			
OR14A16	284532		GRCh37	1	247978682	247978682	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000357627.1:c.350C>T	p.Ser117Phe	p.S117F	ENST00000357627	NM_001001966.1	117	tCc/tTc	0																																																																																																																																																																																																																																												
OR1A1	8383	broad.mit.edu	GRCh37	17	3119408	3119408	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0211-01	TCGA-06-0211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304094.1:c.494G>A	p.Ser165Asn	p.S165N	ENST00000304094	NM_014565.2	165	aGt/aAt	0			1			A	S/N	uc010vrc.1	protein_coding	YES	CCDS11022.1			494/930									ovary(1)|skin(1)	2	c.(493-495)AGT>AAT			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF319,Superfamily_domains:SSF81321	olfactory receptor, family 1, subfamily A,				ENSP00000305207		1-Jan									COSM3402766	1-Jan	.		ENST00000304094	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000172146	g.chr17:3119408G>A	8179			MODERATE		0.39	neutral	getma.org/?cm=msa&ty=f&p=OR1A1_HUMAN&rb=139&re=281&var=S165N	NA	getma.org/?cm=var&var=hg19,17,3119408,G,A&fts=all	S165N	--	--	1																																			1	1		benign(0.008)	p.S165N	NM_014565	NP_055380		deleterious(0.02)	1	OR1A1_HUMAN	OR1A1	HGNC	Q9P1Q5	OR1A1_HUMAN					1	494	+			UPI000013E937	165			Extracellular (Potential).		SNV	OR1A1,missense_variant,p.Ser165Asn,ENST00000304094,NM_014565.2;	uc010vrc.1	c.494G>A	494/930	1	1			c.494G>A						17	SNP	c.(493-495)AGT>AAT	55	55			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 1, subfamily A,			3119408		0.483	ENSG00000172146	10757	g.chr17:3119408G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-33.686406	KEEP	4	3	-1	90	94	4	3	-1	9.709244	90	94	0.028249	1	0	0	0	0	1	0	0	0	--	--		0	A				48	GBM-06-0211-TP	p.S165N	G	CTCACAGCTAGTCTGTCCTTC	NM_014565	NP_055380	3119408	Q9P1Q5	OR1A1_HUMAN	0			1	494	+	A	A			Missense_Mutation	165			Extracellular (Potential).			
OR1A2	0	broad.mit.edu	GRCh37	17	3101531	3101531	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01	TCGA-32-4208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381951.1:c.719G>C	p.Cys240Ser	p.C240S	ENST00000381951	NM_012352.1	240	tGt/tCt	0			1			C	C/S	uc002fvd.1	protein_coding	YES	CCDS11021.1			719/930									skin(2)	2	c.(718-720)TGT>TCT			Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF319,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 1, subfamily A,				ENSP00000371377		1-Jan									COSM3402762	1-Jan	.		ENST00000381951	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000172150	g.chr17:3101531G>C	8180			MODERATE		3.865	high	getma.org/?cm=msa&ty=f&p=OR1A2_HUMAN&rb=139&re=281&var=C240S	NA	getma.org/?cm=var&var=hg19,17,3101531,G,C&fts=all	C240S	--	--	1																																			1	1		probably_damaging(1)	p.C240S	NM_012352	NP_036484		deleterious(0)	1	OR1A2_HUMAN	OR1A2	HGNC	Q9Y585	OR1A2_HUMAN					1	719	+			UPI0000041E56	240			Helical; Name=6; (Potential).		SNV	OR1A2,missense_variant,p.Cys240Ser,ENST00000381951,NM_012352.1;	uc002fvd.1	c.719G>C	719/930	4	4			c.719G>C						17	SNP	c.(718-720)TGT>TCT	41	41			skin(2)	2	Broad	olfactory receptor, family 1, subfamily A,			3101531		0.438	ENSG00000172150	10758	g.chr17:3101531G>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-101.095484	KEEP	3	4	-1	195	273	3	4	-1	16.034496	195	273	0.015873	1	0	0	0	0	1	0	0	0	--	--		0	C				243	GBM-32-4208-TP	p.C240S	G	TTCTGCACCTGTGGCTCCCAC	NM_012352	NP_036484	3101531	Q9Y585	OR1A2_HUMAN	0			1	719	+	C	C			Missense_Mutation	240			Helical; Name=6; (Potential).			
OR1B1	347169	broad.mit.edu	GRCh37	9	125391091	125391091	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-2561-01	TCGA-06-2561-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304833.3:c.724C>T	p.Arg242Ter	p.R242*	ENST00000304833	NM_001004450.1	242	Cga/Tga	0			1			A	R/*	uc011lyz.1	protein_coding	YES	CCDS35126.1			724/957										0	c.(724-726)CGA>TGA			PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF95,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	olfactory receptor, family 1, subfamily B,				ENSP00000303151		1-Jan	8.24E-06					1.50E-05			rs556567774,COSM2152751	1-Jan	.		ENST00000304833	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000171484	g.chr9:125391091G>A	8181			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,9,125391091,G,A&fts=all	R242*	--	--	1																																			0,1	1			p.R242*	NM_001004450	NP_001004450			0,1	OR1B1_HUMAN	OR1B1	HGNC	Q8NGR6	OR1B1_HUMAN					1	724	-			UPI0000041DFF	242			Cytoplasmic (Potential).		SNV	OR1B1,stop_gained,p.Arg242Ter,ENST00000304833,NM_001004450.1;RP11-64P14.7,intron_variant,,ENST00000419604,;RP11-64P14.7,intron_variant,,ENST00000431442,;	uc011lyz.1	c.724C>T	762/995	5	2			c.724C>T						9	SNP	c.(724-726)CGA>TGA	32	32				0	Broad	olfactory receptor, family 1, subfamily B,			125391091		0.557	ENSG00000171484	10759	g.chr9:125391091G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							99.416415	KEEP	21	15	-1	15	12	21	15	-1	99.609032	15	12	0.563636	1	0	0	0	0	0	1	0	0	--	--		0	A				84	GBM-06-2561-TP	p.R242*	G	GAGACTGCTCGGCGGCGACCA	NM_001004450	NP_001004450	125391091	Q8NGR6	OR1B1_HUMAN	0			1	724	-	A	A			Nonsense_Mutation	242			Cytoplasmic (Potential).			
OR1D2	0	broad.mit.edu	GRCh37	17	2995386	2995386	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-2620-01	TCGA-19-2620-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331459.1:c.905G>T	p.Arg302Ile	p.R302I	ENST00000331459	NM_002548.2	302	aGa/aTa	0			1			A	R/I	uc010vrb.1	protein_coding	YES	CCDS11019.1			905/939									ovary(1)	1	c.(904-906)AGA>ATA			Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF176,Superfamily_domains:SSF81321	olfactory receptor, family 1, subfamily D,				ENSP00000327585		1-Jan									COSM3402754	1-Jan	.		ENST00000331459	Transcript			cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	ENSG00000184166	g.chr17:2995386C>A	8183			MODERATE		3.035	medium	getma.org/?cm=msa&ty=f&p=OR1D2_HUMAN&rb=283&re=312&var=R302I	NA	getma.org/?cm=var&var=hg19,17,2995386,C,A&fts=all	R302I	--	--	1																																			1	1		benign(0.418)	p.R302I	NM_002548	NP_002539		deleterious(0)	1	OR1D2_HUMAN	OR1D2	HGNC	P34982	OR1D2_HUMAN					1	905	-			UPI000013F064	302			Cytoplasmic (Potential).		SNV	OR1D2,missense_variant,p.Arg302Ile,ENST00000331459,NM_002548.2;	uc010vrb.1	c.905G>T	905/939	2	2			c.905G>T						17	SNP	c.(904-906)AGA>ATA	48	48			ovary(1)	1	Broad	olfactory receptor, family 1, subfamily D,			2995386		0.463	ENSG00000184166	10761	g.chr17:2995386C>A	cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity							-27.93552	KEEP	7	0	-1	104	79	7	0	-1	11.156656	104	79	0.040698	1	0	0	0	0	1	0	0	0	--	--		0	A				162	GBM-19-2620-TP	p.R302I	C	ATCTAGGAGTCTTCCCAGAGC	NM_002548	NP_002539	2995386	P34982	OR1D2_HUMAN	0			1	905	-	A	A			Missense_Mutation	302			Cytoplasmic (Potential).			
OR1F1	4992	broad.mit.edu	GRCh37	16	3254556	3254556	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs141236935		TCGA-06-0745-01	TCGA-06-0745-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304646.2:c.310G>A	p.Val104Ile	p.V104I	ENST00000304646	NM_012360.1	104	Gtt/Att	0	A:0	A:0	1	A:0		A	V/I	uc010uwu.1	protein_coding	YES	CCDS10496.1			310/939										0	c.(310-312)GTT>ATT			Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26451:SF304,hmmpanther:PTHR26451,PROSITE_profiles:PS50262	olfactory receptor, family 1, subfamily F,		A:0	A:0.0002	ENSP00000305424	A:0.001	1-Jan	0.000198		8.64E-05			0.000195	0.00771	0.000182	rs141236935,COSM2918862	1-Jan	.		ENST00000304646	Transcript		A:0.0002	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000168124	g.chr16:3254556G>A	8194			MODERATE		0.31	neutral	getma.org/?cm=msa&ty=f&p=OR1F1_HUMAN&rb=1&re=138&var=V104I	getma.org/pdb.php?prot=OR1F1_HUMAN&from=1&to=138&var=V104I	getma.org/?cm=var&var=hg19,16,3254556,G,A&fts=all	V104I	--	--	1																																			0,1	1		benign(0.004)	p.V104I	NM_012360	NP_036492	A:0	deleterious(0.04)	0,1	OR1F1_HUMAN	OR1F1	HGNC	O43749	OR1F1_HUMAN					1	310	+			UPI00000015B4	104			Helical; Name=3; (Potential).		SNV	OR1F1,missense_variant,p.Val104Ile,ENST00000304646,NM_012360.1;AJ003147.9,intron_variant,,ENST00000576468,;	uc010uwu.1	c.310G>A	310/942	2	2			c.310G>A						16	SNP	c.(310-312)GTT>ATT	38	38				0	Broad	olfactory receptor, family 1, subfamily F,			3254556		0.498	ENSG00000168124	10766	g.chr16:3254556G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							214.817825	KEEP	44	34	-1	95	52	44	34	-1	218.734181	95	52	0.356481	1	0	0	0	0	1	0	0	0	--	--		0	A				67	GBM-06-0745-TP	p.V104I	G	GATGTATTTCGTTTTCATGTT	NM_012360	NP_036492	3254556	O43749	OR1F1_HUMAN	0			1	310	+	A	A			Missense_Mutation	104			Helical; Name=3; (Potential).			
OR1G1	0	broad.mit.edu	GRCh37	17	3029921	3029921	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-16-1045-01	TCGA-16-1045-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328890.2:c.925A>G	p.Lys309Glu	p.K309E	ENST00000328890	NM_003555.1	309	Aaa/Gaa	0			1			C	K/E	uc002fvc.1	protein_coding	YES	CCDS11020.1			925/942										0	c.(925-927)AAA>GAA			hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF247,Superfamily_domains:SSF81321	olfactory receptor, family 1, subfamily G,				ENSP00000331545		1-Jan									COSM3402755	1-Jan	.		ENST00000328890	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000183024	g.chr17:3029921T>C	8204			MODERATE		1.24	low	getma.org/?cm=msa&ty=f&p=OR1G1_HUMAN&rb=284&re=313&var=K309E	NA	getma.org/?cm=var&var=hg19,17,3029921,T,C&fts=all	K309E	--	--	1																																			1	1		benign(0.037)	p.K309E	NM_003555	NP_003546		tolerated(0.16)	1	OR1G1_HUMAN	OR1G1	HGNC	P47890	OR1G1_HUMAN					1	925	-			UPI0000041B68	309			Cytoplasmic (Potential).		SNV	OR1G1,missense_variant,p.Lys309Glu,ENST00000328890,NM_003555.1;	uc002fvc.1	c.925A>G	955/998	4	4			c.925A>G						17	SNP	c.(925-927)AAA>GAA	34	34				0	Broad	olfactory receptor, family 1, subfamily G,			3029921		0.428	ENSG00000183024	10767	g.chr17:3029921T>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	Colon(127;1481 1654 8243 19426 50557)			Colon(127;1481 1654 8243 19426 50557)			218.793767	KEEP	40	26	-1	54	56	40	26	-1	220.812076	54	56	0.381818	1	0	0	0	0	1	0	0	0	--	--		0	C				157	GBM-16-1045-TP	p.K309E	T	GAATGAATTTTCCGAACCCAG	NM_003555	NP_003546	3029921	P47890	OR1G1_HUMAN	0			1	925	-	C	C			Missense_Mutation	309			Cytoplasmic (Potential).			
OR1G1	0	broad.mit.edu	GRCh37	17	3030338	3030338	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2625-01	TCGA-19-2625-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328890.2:c.508G>A	p.Ala170Thr	p.A170T	ENST00000328890	NM_003555.1	170	Gca/Aca	0			1			T	A/T	uc002fvc.1	protein_coding	YES	CCDS11020.1			508/942										0	c.(508-510)GCA>ACA			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF247,Superfamily_domains:SSF81321	olfactory receptor, family 1, subfamily G,				ENSP00000331545		1-Jan	9.88E-05		0.000259			0.00012		6.06E-05	rs201573244,COSM3402756	1-Jan	.		ENST00000328890	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000183024	g.chr17:3030338C>T	8204			MODERATE		0.79	neutral	getma.org/?cm=msa&ty=f&p=OR1G1_HUMAN&rb=139&re=283&var=A170T	NA	getma.org/?cm=var&var=hg19,17,3030338,C,T&fts=all	A170T	--	--	1																																			0,1	1		possibly_damaging(0.654)	p.A170T	NM_003555	NP_003546		tolerated(0.7)	0,1	OR1G1_HUMAN	OR1G1	HGNC	P47890	OR1G1_HUMAN					1	508	-			UPI0000041B68	170			Extracellular (Potential).		SNV	OR1G1,missense_variant,p.Ala170Thr,ENST00000328890,NM_003555.1;	uc002fvc.1	c.508G>A	538/998	1	1			c.508G>A						17	SNP	c.(508-510)GCA>ACA	8	8				0	Broad	olfactory receptor, family 1, subfamily G,			3030338		0.532	ENSG00000183024	10767	g.chr17:3030338C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	Colon(127;1481 1654 8243 19426 50557)			Colon(127;1481 1654 8243 19426 50557)			145.011337	KEEP	33	29	-1	93	102	33	29	-1	157.549529	93	102	0.251121	1	0	0	0	0	1	0	0	0	--	--		0	T				165	GBM-19-2625-TP	p.A170T	C	TCATGGTTTGCGCAGAAGGAC	NM_003555	NP_003546	3030338	P47890	OR1G1_HUMAN	0			1	508	-	T	T			Missense_Mutation	170			Extracellular (Potential).			
OR1I1	0	broad.mit.edu	GRCh37	19	15198267	15198267	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000209540.2:c.391C>T	p.Arg131Cys	p.R131C	ENST00000209540	NM_001004713.1	131	Cgt/Tgt	0	T:0		1			T	R/C	uc010xoe.1	protein_coding	YES	CCDS32937.1			391/1068									ovary(2)|kidney(1)	3	c.(391-393)CGT>TGT			Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF121,PROSITE_profiles:PS50262	olfactory receptor, family 1, subfamily I,			T:0.0002	ENSP00000209540		1-Jan	4.94E-05					9.00E-05			rs372952340,COSM2154293	1-Jan	.		ENST00000209540	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000094661	g.chr19:15198267C>T	8207			MODERATE		1.405	low	getma.org/?cm=msa&ty=f&p=OR1I1_HUMAN&rb=35&re=209&var=R131C	getma.org/pdb.php?prot=OR1I1_HUMAN&from=35&to=209&var=R131C	getma.org/?cm=var&var=hg19,19,15198267,C,T&fts=all	R131C	--	--	1																																			0,1	1		possibly_damaging(0.849)	p.R131C	NM_001004713	NP_001004713		deleterious(0)	0,1	OR1I1_HUMAN	OR1I1	HGNC	O60431	OR1I1_HUMAN					1	391	+			UPI0000130B3E	131			Cytoplasmic (Potential).		SNV	OR1I1,missense_variant,p.Arg131Cys,ENST00000209540,NM_001004713.1;	uc010xoe.1	c.391C>T	477/1242	2	2			c.391C>T						19	SNP	c.(391-393)CGT>TGT	18	18			ovary(2)|kidney(1)	3	Broad	olfactory receptor, family 1, subfamily I,			15198267		0.567	ENSG00000094661	10768	g.chr19:15198267C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							78.041029	KEEP	18	10	-1	16	20	18	10	-1	78.222047	16	20	0.440678	1	0	0	0	0	1	0	0	0	--	--		0	T				122	GBM-12-0692-TP	p.R131C	C	CCACCCACAGCGTTACTTGGT	NM_001004713	NP_001004713	15198267	O60431	OR1I1_HUMAN	0			1	391	+	T	T			Missense_Mutation	131			Cytoplasmic (Potential).			
OR1J1	347168	broad.mit.edu	GRCh37	9	125239745	125239745	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259357.2:c.461C>T	p.Ala154Val	p.A154V	ENST00000259357	NM_001004451.1	154	gCg/gTg	0			1			A	A/V	uc011lyu.1	protein_coding	YES	CCDS35120.1			461/969									skin(2)	2	c.(460-462)GCG>GTG			Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF213,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 1, subfamily J,				ENSP00000259357		1-Jan	3.29E-05			0.000116				0.000182	rs762965619,COSM1104831	1-Jan	.		ENST00000259357	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000136834	g.chr9:125239745G>A	8208			MODERATE		0.4	neutral	getma.org/?cm=msa&ty=f&p=OR1J1_HUMAN&rb=139&re=283&var=A154V	NA	getma.org/?cm=var&var=hg19,9,125239745,G,A&fts=all	A154V	--	--	1																																		OR1J2_uc004bmj.1_Intron	0,1	1		benign(0.032)	p.A154V	NM_001004451	NP_001004451		tolerated_low_confidence(0.22)	0,1	OR1J1_HUMAN	OR1J1	HGNC	Q8NGS3	OR1J1_HUMAN					1	461	-			UPI0000061E79	154			Helical; Name=4; (Potential).		SNV	OR1J1,missense_variant,p.Ala154Val,ENST00000259357,NM_001004451.1;RP11-542K23.9,downstream_gene_variant,,ENST00000412262,;	uc011lyu.1	c.461C>T	491/1016	2	2			c.461C>T						9	SNP	c.(460-462)GCG>GTG	30	30			skin(2)	2	Broad	olfactory receptor, family 1, subfamily J,			125239745		0.542	ENSG00000136834	10769	g.chr9:125239745G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							78.517533	KEEP	12	15	-1	20	21	12	15	-1	78.992403	20	21	0.409091	1	0	0	0	0	1	0	0	0	--	--		0	A			OR1J2_uc004bmj.1_Intron	68	GBM-06-0747-TP	p.A154V	G	AAGAGCACACGCACAAGCGAT	NM_001004451	NP_001004451	125239745	Q8NGS3	OR1J1_HUMAN	0			1	461	-	A	A			Missense_Mutation	154			Helical; Name=4; (Potential).			
OR1J1	0	broad.mit.edu	GRCh37	9	125239495	125239495	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-5651-01	TCGA-41-5651-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259357.2:c.711C>T	p.Ala237=	p.A237=	ENST00000259357	NM_001004451.1	237	gcC/gcT	0			1			A	A	uc011lyu.1	protein_coding	YES	CCDS35120.1			711/969									skin(2)	2	c.(709-711)GCC>GCT			Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF213,Superfamily_domains:SSF81321	olfactory receptor, family 1, subfamily J,				ENSP00000259357		1-Jan									COSM3323336	1-Jan	.		ENST00000259357	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000136834	g.chr9:125239495G>A	8208			LOW								--	--	1																																		OR1J2_uc004bmj.1_Intron	1	1			p.A237A	NM_001004451	NP_001004451			1	OR1J1_HUMAN	OR1J1	HGNC	Q8NGS3	OR1J1_HUMAN					1	711	-			UPI0000061E79	237			Helical; Name=6; (Potential).		SNV	OR1J1,synonymous_variant,p.=,ENST00000259357,NM_001004451.1;RP11-542K23.9,downstream_gene_variant,,ENST00000412262,;	uc011lyu.1	c.711C>T	741/1016	2	2			c.711C>T						9	SNP	c.(709-711)GCC>GCT	44	44			skin(2)	2	Broad	olfactory receptor, family 1, subfamily J,			125239495		0.468	ENSG00000136834	10769	g.chr9:125239495G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							66.423677	KEEP	8	14	-1	25	19	8	14	-1	67.807027	25	19	0.34375	1	0	0	0	0	0	0	1	0	--	--		0	A			OR1J2_uc004bmj.1_Intron	258	GBM-41-5651-TP	p.A237A	G	AAGTGGACAAGGCTTTGCATA	NM_001004451	NP_001004451	125239495	Q8NGS3	OR1J1_HUMAN	0			1	711	-	A	A			Silent	237			Helical; Name=6; (Potential).			
OR1J4	0	broad.mit.edu	GRCh37	9	125281885	125281885	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1834-01	TCGA-27-1834-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340750.1:c.466G>A	p.Ala156Thr	p.A156T	ENST00000340750	NM_001004452.1	156	Gcc/Acc	0			1			A	A/T	uc011lyw.1	protein_coding	YES	CCDS35122.1			466/942										0	c.(466-468)GCC>ACC			Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF207,PROSITE_profiles:PS50262	olfactory receptor, family 1, subfamily J,				ENSP00000343521		1-Jan									COSM3413316	1-Jan	.		ENST00000340750	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000239590	g.chr9:125281885G>A	8211			MODERATE		1.44	low	getma.org/?cm=msa&ty=f&p=OR1J4_HUMAN&rb=139&re=283&var=A156T	NA	getma.org/?cm=var&var=hg19,9,125281885,G,A&fts=all	A156T	--	--	1																																			1	1		benign(0.367)	p.A156T	NM_001004452	NP_001004452		deleterious_low_confidence(0.01)	1	OR1J4_HUMAN	OR1J4	HGNC	Q8NGS1	OR1J4_HUMAN			A3KME5_HUMAN		1	466	+			UPI0000041D07	156			Helical; Name=4; (Potential).		SNV	OR1J4,missense_variant,p.Ala156Thr,ENST00000340750,NM_001004452.1;	uc011lyw.1	c.466G>A	466/942	1	1			c.466G>A						9	SNP	c.(466-468)GCC>ACC	50	50				0	Broad	olfactory receptor, family 1, subfamily J,			125281885		0.517	ENSG00000239590	10771	g.chr9:125281885G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							474.193292	KEEP	76	94	-1	32	37	76	94	-1	482.862816	32	37	0.70852	1	0	0	0	0	1	0	0	0	--	--		0	A				193	GBM-27-1834-TP	p.A156T	G	CTGTACCAATGCCCTGTCTCA	NM_001004452	NP_001004452	125281885	Q8NGS1	OR1J4_HUMAN	0			1	466	+	A	A			Missense_Mutation	156			Helical; Name=4; (Potential).			
OR1L1	26737		GRCh37	9	125424624	125424624	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000309623.1:c.630G>A	p.Pro210=	p.P210=	ENST00000309623	NM_001005236.3	210	ccG/ccA	0																																																																																																																																																																																																																																												
OR1M1	125963		GRCh37	19	9204125	9204125	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000429566.3:c.205G>A	p.Val69Ile	p.V69I	ENST00000429566	NM_001004456.1	69	Gtt/Att	0																																																																																																																																																																																																																																												
OR1Q1	158131	broad.mit.edu	GRCh37	9	125377107	125377107	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0190-01	TCGA-06-0190-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297913.2:c.91T>G	p.Phe31Val	p.F31V	ENST00000297913	NM_012364.1	31	Ttc/Gtc	0			1			G	F/V	uc011lyy.1	protein_coding	YES	CCDS35125.1			91/945									ovary(1)	1	c.(91-93)TTC>GTC			Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF92,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 1, subfamily Q,				ENSP00000297913		1-Jan									COSM3413318	1-Jan	.		ENST00000297913	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000165202	g.chr9:125377107T>G	8223			MODERATE		2.375	medium	getma.org/?cm=msa&ty=f&p=OR1Q1_HUMAN&rb=1&re=138&var=F31V	getma.org/pdb.php?prot=OR1Q1_HUMAN&from=1&to=138&var=F31V	getma.org/?cm=var&var=hg19,9,125377107,T,G&fts=all	F31V	--	--	1																																			1	1		probably_damaging(0.991)	p.F31V	NM_012364	NP_036496		deleterious(0)	1	OR1Q1_HUMAN	OR1Q1	HGNC	Q15612	OR1Q1_HUMAN					1	91	+			UPI000003CACD	31			Helical; Name=1; (Potential).		SNV	OR1Q1,missense_variant,p.Phe31Val,ENST00000297913,NM_012364.1;RP11-64P14.7,intron_variant,,ENST00000431442,;RP11-64P14.7,upstream_gene_variant,,ENST00000419604,;	uc011lyy.1	c.91T>G	160/1079	3	3			c.91T>G						9	SNP	c.(91-93)TTC>GTC	60	60			ovary(1)	1	Broad	olfactory receptor, family 1, subfamily Q,			125377107		0.483	ENSG00000165202	10781	g.chr9:125377107T>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-75.695844	KEEP	4	5	-1	187	179	4	5	-1	15.909394	187	179	0.019774	1	0	0	0	0	1	0	0	0	--	--		0	G				43	GBM-06-0190-TP	p.F31V	T	CTTCCTTGTTTTCTCACTCAT	NM_012364	NP_036496	125377107	Q15612	OR1Q1_HUMAN	0			1	91	+	G	G			Missense_Mutation	31			Helical; Name=1; (Potential).			
OR1S1	0	broad.mit.edu	GRCh37	11	57982381	57982381	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-1970-01	TCGA-32-1970-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309433.6:c.165C>T	p.Asn55=	p.N55=	ENST00000309433	NM_001004458.1	55	aaC/aaT	0	A:0		1			T	N	uc010rkc.1	protein_coding	YES	CCDS31546.1			165/978									breast(1)	1	c.(163-165)AAC>AAT			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF180,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 1, subfamily S,			A:0.0001	ENSP00000311688		1-Jan	8.24E-06					1.50E-05			rs199668390,COSM3397888	1-Jan	.		ENST00000309433	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000172774	g.chr11:57982381C>T	8227			LOW								--	--	1																																			0,1	1			p.N55N	NM_001004458	NP_001004458			0,1	OR1S1_HUMAN	OR1S1	HGNC	Q8NH92	OR1S1_HUMAN					1	165	+		Breast(21;0.0589)	UPI0000041C51	55			Helical; Name=1; (Potential).		SNV	OR1S1,synonymous_variant,p.=,ENST00000309433,NM_001004458.1;	uc010rkc.1	c.165C>T	165/979	2	2			c.165C>T						11	SNP	c.(163-165)AAC>AAT	29	29			breast(1)	1	Broad	olfactory receptor, family 1, subfamily S,			57982381		0.443	ENSG00000172774	10782	g.chr11:57982381C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							380.59278	KEEP	80	70	-1	114	158	80	70	-1	387.281993	114	158	0.356757	1	0	0	0	0	0	0	1	0	--	--		0	T				228	GBM-32-1970-TP	p.N55N	C	TGATTGGGAACGGGCTCATCA	NM_001004458	NP_001004458	57982381	Q8NH92	OR1S1_HUMAN	0			1	165	+	T	T		Breast(21;0.0589)	Silent	55			Helical; Name=1; (Potential).			
OR1S1	219959		GRCh37	11	57982888	57982888	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000309433.6:c.672T>C	p.Phe224=	p.F224=	ENST00000309433	NM_001004458.1	224	ttT/ttC	0																																																																																																																																																																																																																																												
OR2A1	346528	broad.mit.edu	GRCh37	7	144015519	144015519	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-5413-01	TCGA-06-5413-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408951.1:c.302T>G	p.Phe101Cys	p.F101C	ENST00000408951	NM_001005287.1	101	tTt/tGt	0			1			G	F/C	uc011kud.1	protein_coding	YES	CCDS43673.1			302/933									skin(2)	2	c.(283-285)TTT>TGT			Gene3D:1.20.1070.10,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF137,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 2, subfamily A,				ENSP00000386175		1-Jan									COSM3411750	1-Jan	.		ENST00000408951	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000221970	g.chr7:144015519T>G	8229			MODERATE		1.64	low	getma.org/?cm=msa&ty=f&p=OR2A1_HUMAN&rb=1&re=137&var=F101C	getma.org/pdb.php?prot=OR2A1_HUMAN&from=1&to=137&var=F101C	getma.org/?cm=var&var=hg19,7,144015519,T,G&fts=all	F101C	--	--	1																																		OR2A9P_uc003wec.1_Intron	1	1		possibly_damaging(0.832)	p.F95C	NM_001001802	NP_001001802		deleterious(0)	1	OR2A1_HUMAN	OR2A1	HGNC	Q8NGT9	OR2A1_HUMAN			H9XFB2_HUMAN,H9XFB1_HUMAN,H9XFB0_HUMAN,H9XFA9_HUMAN		1	284	+	Melanoma(164;0.14)		UPI0000041DF3	101			Helical; Name=3; (Potential).		SNV	OR2A1,missense_variant,p.Phe101Cys,ENST00000408951,NM_001005287.1;OR2A1-AS1,intron_variant,,ENST00000463561,;OR2A1-AS1,intron_variant,,ENST00000486094,;OR2A1-AS1,intron_variant,,ENST00000476560,;OR2A1-AS1,intron_variant,,ENST00000487102,;OR2A1-AS1,intron_variant,,ENST00000475089,;OR2A1-AS1,intron_variant,,ENST00000478806,;OR2A1-AS1,intron_variant,,ENST00000488041,;OR2A1-AS1,intron_variant,,ENST00000496968,;OR2A1-AS1,intron_variant,,ENST00000489488,;OR2A1-AS1,intron_variant,,ENST00000467944,;OR2A1-AS1,intron_variant,,ENST00000461843,;OR2A1-AS1,intron_variant,,ENST00000493539,;OR2A1-AS1,downstream_gene_variant,,ENST00000478925,;	uc011kud.1	c.284T>G	302/933	3	3			c.284T>G						7	SNP	c.(283-285)TTT>TGT	60	60			skin(2)	2	Broad	olfactory receptor, family 2, subfamily A,			144015519		0.572	ENSG00000221970	10784	g.chr7:144015519T>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							26.146286	KEEP	30	22	-1	270	267	30	22	-1	109.498134	270	267	0.084211	1	0	0	0	0	1	0	0	0	--	--		0	G			OR2A9P_uc003wec.1_Intron	96	GBM-06-5413-TP	p.F95C	T	ACGCAGACCTTTCTCTGTTTG	NM_001001802	NP_001001802	144015519	Q8NGT9	OR2A1_HUMAN	0			1	284	+	G	G	Melanoma(164;0.14)		Missense_Mutation	101			Helical; Name=3; (Potential).			
OR2A12	0	broad.mit.edu	GRCh37	7	143792808	143792808	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408949.2:c.608C>T	p.Ala203Val	p.A203V	ENST00000408949	NM_001004135.1	203	gCg/gTg	0			1			T	A/V	uc011kty.1	protein_coding	YES	CCDS43670.1			608/933									ovary(2)|central_nervous_system(1)	3	c.(607-609)GCG>GTG			Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF50,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	olfactory receptor, family 2, subfamily A,				ENSP00000386174		1-Jan	1.65E-05			0.000116				6.06E-05	rs770301708,COSM2154779	1-Jan	.		ENST00000408949	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000221858	g.chr7:143792808C>T	15082			MODERATE		-1.03	neutral	getma.org/?cm=msa&ty=f&p=O2A12_HUMAN&rb=138&re=282&var=A203V	NA	getma.org/?cm=var&var=hg19,7,143792808,C,T&fts=all	A203V	--	--	1																																			0,1	1		benign(0.001)	p.A203V	NM_001004135	NP_001004135		tolerated(1)	0,1	O2A12_HUMAN	OR2A12	HGNC	Q8NGT7	O2A12_HUMAN			A4D2G4_HUMAN		1	608	+	Melanoma(164;0.0783)		UPI0000061E6F	203			Helical; Name=5; (Potential).		SNV	OR2A12,missense_variant,p.Ala203Val,ENST00000408949,NM_001004135.1;	uc011kty.1	c.608C>T	668/1046	1	1			c.608C>T						7	SNP	c.(607-609)GCG>GTG	15	15			ovary(2)|central_nervous_system(1)	3	Broad	olfactory receptor, family 2, subfamily A,			143792808		0.537	ENSG00000221858	10785	g.chr7:143792808C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							245.983251	KEEP	64	50	-1	222	135	64	50	-1	270.529651	222	135	0.244552	1	0	0	0	0	1	0	0	0	--	--		0	T				139	GBM-14-0817-TP	p.A203V	C	GCGGGTTCTGCGTTCATCTTA	NM_001004135	NP_001004135	143792808	Q8NGT7	O2A12_HUMAN	0			1	608	+	T	T	Melanoma(164;0.0783)		Missense_Mutation	203			Helical; Name=5; (Potential).			
OR2A12	0	broad.mit.edu	GRCh37	7	143792799	143792799	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01	TCGA-19-5950-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408949.2:c.599C>T	p.Ala200Val	p.A200V	ENST00000408949	NM_001004135.1	200	gCg/gTg	0			1			T	A/V	uc011kty.1	protein_coding	YES	CCDS43670.1			599/933								p.A200V(1)	ovary(2)|central_nervous_system(1)	3	c.(598-600)GCG>GTG			Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF50,PROSITE_profiles:PS50262	olfactory receptor, family 2, subfamily A,				ENSP00000386174		1-Jan	1.65E-05					3.00E-05			rs770997909,COSM41029	1-Jan	.		ENST00000408949	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000221858	g.chr7:143792799C>T	15082			MODERATE		0.67	neutral	getma.org/?cm=msa&ty=f&p=O2A12_HUMAN&rb=138&re=282&var=A200V	NA	getma.org/?cm=var&var=hg19,7,143792799,C,T&fts=all	A200V	--	--	1																																			0,1	1		benign(0.006)	p.A200V	NM_001004135	NP_001004135		tolerated(0.36)	0,1	O2A12_HUMAN	OR2A12	HGNC	Q8NGT7	O2A12_HUMAN			A4D2G4_HUMAN		1	599	+	Melanoma(164;0.0783)		UPI0000061E6F	200			Helical; Name=5; (Potential).		SNV	OR2A12,missense_variant,p.Ala200Val,ENST00000408949,NM_001004135.1;	uc011kty.1	c.599C>T	659/1046	2	2			c.599C>T						7	SNP	c.(598-600)GCG>GTG	45	45		p.A200V(1)	ovary(2)|central_nervous_system(1)	3	Broad	olfactory receptor, family 2, subfamily A,			143792799		0.532	ENSG00000221858	10785	g.chr7:143792799C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							151.356321	KEEP	33	36	-1	131	120	33	36	-1	171.080245	131	120	0.227586	1	0	0	0	0	1	0	0	0	--	--		0	T				170	GBM-19-5950-TP	p.A200V	C	GTCCTATTTGCGGGTTCTGCG	NM_001004135	NP_001004135	143792799	Q8NGT7	O2A12_HUMAN	0			1	599	+	T	T	Melanoma(164;0.0783)		Missense_Mutation	200			Helical; Name=5; (Potential).			
OR2A12	346525		GRCh37	7	143792582	143792582	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000408949.2:c.382C>A	p.Pro128Thr	p.P128T	ENST00000408949	NM_001004135.1	128	Ccc/Acc	0																																																																																																																																																																																																																																												
OR2A12	346525		GRCh37	7	143792982	143792982	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000408949.2:c.782C>A	p.Pro261His	p.P261H	ENST00000408949	NM_001004135.1	261	cCc/cAc	0																																																																																																																																																																																																																																												
OR2A14	135941	broad.mit.edu	GRCh37	7	143826382	143826382	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0221-01	TCGA-06-0221-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408899.2:c.177C>A	p.Tyr59Ter	p.Y59*	ENST00000408899	NM_001001659.1	59	taC/taA	0			1			A	Y/*	uc011kua.1	protein_coding	YES	CCDS43672.1			177/933										0	c.(175-177)TAC>TAA			PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF27,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 2, subfamily A,				ENSP00000386137		1-Jan									COSM3411742	1-Jan	.		ENST00000408899	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000221938	g.chr7:143826382C>A	15084			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,143826382,C,A&fts=all	Y59*	--	--	1																																			1	1			p.Y59*	NM_001001659	NP_001001659			1	O2A14_HUMAN	OR2A14	HGNC	Q96R47	O2A14_HUMAN					1	177	+	Melanoma(164;0.0783)		UPI0000061E6E	59			Helical; Name=2; (Potential).		SNV	OR2A14,stop_gained,p.Tyr59Ter,ENST00000408899,NM_001001659.1;	uc011kua.1	c.177C>A	232/1012	5	1			c.177C>A						7	SNP	c.(175-177)TAC>TAA	52	52				0	Broad	olfactory receptor, family 2, subfamily A,			143826382		0.478	ENSG00000221938	10786	g.chr7:143826382C>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-59.444838	KEEP	7	8	0.533333333	212	171	7	8	0.533333333	26.339963	212	171	0.035519	1	0	0	0	0	0	1	0	0	--	--		0	A				53	GBM-06-0221-TP	p.Y59*	C	CACCCATGTACTTCTTCCTCT	NM_001001659	NP_001001659	143826382	Q96R47	O2A14_HUMAN	0			1	177	+	A	A	Melanoma(164;0.0783)		Nonsense_Mutation	59			Helical; Name=2; (Potential).			
OR2A2	442361		GRCh37	7	143807297	143807297	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000408979.2:c.622G>A	p.Gly208Arg	p.G208R	ENST00000408979	NM_001005480.2	208	Ggg/Agg	0																																																																																																																																																																																																																																												
OR2A25	0	broad.mit.edu	GRCh37	7	143771552	143771552	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01	TCGA-28-2509-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408898.2:c.240G>A	p.Met80Ile	p.M80I	ENST00000408898	NM_001004488.1	80	atG/atA	0			1			A	M/I	uc011ktx.1	protein_coding	YES	CCDS43669.1			240/933										0	c.(238-240)ATG>ATA			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF146,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 2, subfamily A,				ENSP00000386167		1-Jan									COSM599718	1-Jan	.		ENST00000408898	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000221933	g.chr7:143771552G>A	19562			MODERATE		2.3	medium	getma.org/?cm=msa&ty=f&p=O2A25_HUMAN&rb=1&re=137&var=M80I	getma.org/pdb.php?prot=O2A25_HUMAN&from=1&to=137&var=M80I	getma.org/?cm=var&var=hg19,7,143771552,G,A&fts=all	M80I	--	--	1																																			1	1		benign(0.291)	p.M80I	NM_001004488	NP_001004488		deleterious(0.04)	1	O2A25_HUMAN	OR2A25	HGNC	A4D2G3	O2A25_HUMAN					1	240	+	Melanoma(164;0.0783)		UPI00002373C5	80			Extracellular (Potential).		SNV	OR2A25,missense_variant,p.Met80Ile,ENST00000408898,NM_001004488.1;OR2A41P,upstream_gene_variant,,ENST00000473586,;	uc011ktx.1	c.240G>A	278/1014	2	2			c.240G>A						7	SNP	c.(238-240)ATG>ATA	17	17				0	Broad	olfactory receptor, family 2, subfamily A,			143771552		0.547	ENSG00000221933	10788	g.chr7:143771552G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							7.273946	KEEP	7	10	-1	73	80	7	10	-1	32.114275	73	80	0.101911	1	0	0	0	0	1	0	0	0	--	--		0	A				211	GBM-28-2509-TP	p.M80I	G	TGCCCCAGATGCTGGTGAACC	NM_001004488	NP_001004488	143771552	A4D2G3	O2A25_HUMAN	0			1	240	+	A	A	Melanoma(164;0.0783)		Missense_Mutation	80			Extracellular (Potential).			
OR2A25	392138		GRCh37	7	143772171	143772171	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000408898.2:c.859C>T	p.Leu287=	p.L287=	ENST00000408898	NM_001004488.1	287	Cta/Tta	0																																																																																																																																																																																																																																												
OR2A5	393046	broad.mit.edu	GRCh37	7	143748162	143748162	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01	TCGA-06-0169-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408906.2:c.668C>T	p.Ala223Val	p.A223V	ENST00000408906	NM_012365.1	223	gCg/gTg	0	G:0.0002	G:0	1	G:0.0014		T	A/V	uc011ktw.1	protein_coding	YES	CCDS43668.1			668/936									ovary(3)	3	c.(667-669)GCG>GTG			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF232,Superfamily_domains:SSF81321	olfactory receptor, family 2, subfamily A,		G:0	G:0.0034	ENSP00000386208	G:0.001	1-Jan	2.48E-05					3.00E-05	0.00111		rs201829543,COSM293413	1-Jan	.		ENST00000408906	Transcript		G:0.0004	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000221836	g.chr7:143748162C>T	8232			MODERATE		0.08	neutral	getma.org/?cm=msa&ty=f&p=OR2A5_HUMAN&rb=139&re=283&var=A223V	NA	getma.org/?cm=var&var=hg19,7,143748162,C,T&fts=all	A223V	--	--	1																																			0,1	1		benign(0.002)	p.A223V	NM_012365	NP_036497	G:0	tolerated(0.73)	0,1	OR2A5_HUMAN	OR2A5	HGNC	Q96R48	OR2A5_HUMAN					1	668	+	Melanoma(164;0.0783)		UPI0000061F52	223			Cytoplasmic (Potential).		SNV	OR2A5,missense_variant,p.Ala223Val,ENST00000408906,NM_012365.1;	uc011ktw.1	c.668C>T	702/1013	2	2			c.668C>T						7	SNP	c.(667-669)GCG>GTG	24	24			ovary(3)	3	Broad	olfactory receptor, family 2, subfamily A,			143748162		0.607	ENSG00000221836	10791	g.chr7:143748162C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							202.504161	KEEP	45	48	-1	149	159	45	48	-1	226.339777	149	159	0.232877	1	0	0	0	0	1	0	0	0	--	--		0	T				34	GBM-06-0169-TP	p.A223V	C	CGCATCCTGGCGGCCATCTTG	NM_012365	NP_036497	143748162	Q96R48	OR2A5_HUMAN	0			1	668	+	T	T	Melanoma(164;0.0783)		Missense_Mutation	223			Cytoplasmic (Potential).			
OR2A5	0	broad.mit.edu	GRCh37	7	143748358	143748359	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-76-4926-01	TCGA-76-4926-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408906.2:c.865dupA	p.Ile289AsnfsTer3	p.I289Nfs*3	ENST00000408906	NM_012365.1	288	-/A	0			1			A	-/X	uc011ktw.1	protein_coding	YES	CCDS43668.1			864-865/936									ovary(3)	3	c.(862-867)TTGATCfs			Gene3D:1.20.1070.10,Prints_domain:PR00237,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF232,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 2, subfamily A,				ENSP00000386208		1-Jan										1-Jan	.		ENST00000408906	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000221836	g.chr7:143748358_143748359insA	8232	1		HIGH								--	--	1																																				1			p.L288fs	NM_012365	NP_036497				OR2A5_HUMAN	OR2A5	HGNC	Q96R48	OR2A5_HUMAN					1	864_865	+	Melanoma(164;0.0783)		UPI0000061F52	288_289			Helical; Name=7; (Potential).		insertion	OR2A5,frameshift_variant,p.Ile289AsnfsTer3,ENST00000408906,NM_012365.1;	uc011ktw.1	c.864_865insA	898-899/1013	5	5			c.864_865insA						7	INS	c.(862-867)TTGATCfs	54	54			ovary(3)	3	Broad	olfactory receptor, family 2, subfamily A,			143748359		0.525	ENSG00000221836	10791	g.chr7:143748358_143748359insA	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity																				0.32	1	0	0	1	1	0	0	0	0	--	--		0	A				266	GBM-76-4926-TP	p.L288fs	-	TGAACCCCTTGATCTATAGCCT	NM_012365	NP_036497	143748358	Q96R48	OR2A5_HUMAN	0			1	864_865	+	A	A	Melanoma(164;0.0783)		Frame_Shift_Ins	288_289			Helical; Name=7; (Potential).			
OR2A7	0	broad.mit.edu	GRCh37	7	143956670	143956670	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-1747-01	TCGA-28-1747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000493325.1:c.52G>A	p.Val18Ile	p.V18I	ENST00000493325	NM_001005328.1	18	Gtt/Att	0		T:0.0008	1	T:0		T	V/I	uc011kuc.1	protein_coding	YES	CCDS55177.1			52/933									ovary(1)	1	c.(52-54)GTT>ATT			hmmpanther:PTHR26451:SF135,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 2, subfamily A,		T:0		ENSP00000420502	T:0	1-Jan	2.47E-05	0.000107				1.53E-05		6.06E-05	rs531461622,COSM3411748,COSM3411747	1-Jan	.		ENST00000493325	Transcript		T:0.0002	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000243896	g.chr7:143956670C>T	8234			MODERATE		-0.25	neutral	getma.org/?cm=msa&ty=f&p=OR2A7_HUMAN&rb=1&re=137&var=V18I	NA	getma.org/?cm=var&var=hg19,7,143956670,C,T&fts=all	V18I	--	--	1																																		OR2A9P_uc003wec.1_Intron|OR2A7_uc003wef.2_3'UTR	0,1,1	1		benign(0.003)	p.V18I	NM_001005328	NP_001005328	T:0	tolerated(0.12)	0,1,1	OR2A7_HUMAN	OR2A7	HGNC	Q96R45	OR2A7_HUMAN					1	52	-	Melanoma(164;0.14)		UPI00000373F5	18			Extracellular (Potential).		SNV	OR2A7,missense_variant,p.Val18Ile,ENST00000493325,NM_001005328.1;ARHGEF35,intron_variant,,ENST00000543357,;OR2A1-AS1,intron_variant,,ENST00000463561,;OR2A1-AS1,intron_variant,,ENST00000476560,;OR2A1-AS1,intron_variant,,ENST00000487102,;OR2A1-AS1,intron_variant,,ENST00000478806,;RP4-545C24.1,intron_variant,,ENST00000460955,;OR2A1-AS1,intron_variant,,ENST00000489488,;OR2A1-AS1,intron_variant,,ENST00000461843,;OR2A1-AS1,upstream_gene_variant,,ENST00000498397,;	uc011kuc.1	c.52G>A	146/1116	2	2			c.52G>A						7	SNP	c.(52-54)GTT>ATT	41	41			ovary(1)	1	Broad	olfactory receptor, family 2, subfamily A,			143956670		0.498	ENSG00000243896	10792	g.chr7:143956670C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-9.611592	KEEP	26	46	-1	366	404	26	46	-1	102.578908	366	404	0.076797	1	0	0	0	0	1	0	0	0	--	--		0	T			OR2A9P_uc003wec.1_Intron|OR2A7_uc003wef.2_3'UTR	206	GBM-28-1747-TP	p.V18I	C	CTTGGGCCAACGGGAAATCCC	NM_001005328	NP_001005328	143956670	Q96R45	OR2A7_HUMAN	0			1	52	-	T	T	Melanoma(164;0.14)		Missense_Mutation	18			Extracellular (Potential).			
OR2A7	0	broad.mit.edu	GRCh37	7	143956670	143956670	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000493325.1:c.52G>A	p.Val18Ile	p.V18I	ENST00000493325	NM_001005328.1	18	Gtt/Att	0		T:0.0008	1	T:0		T	V/I	uc011kuc.1	protein_coding	YES	CCDS55177.1			52/933									ovary(1)	1	c.(52-54)GTT>ATT			hmmpanther:PTHR26451:SF135,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 2, subfamily A,		T:0		ENSP00000420502	T:0	1-Jan	2.47E-05	0.000107				1.53E-05		6.06E-05	rs531461622,COSM3411748,COSM3411747	1-Jan	.		ENST00000493325	Transcript		T:0.0002	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000243896	g.chr7:143956670C>T	8234			MODERATE		-0.25	neutral	getma.org/?cm=msa&ty=f&p=OR2A7_HUMAN&rb=1&re=137&var=V18I	NA	getma.org/?cm=var&var=hg19,7,143956670,C,T&fts=all	V18I	--	--	1																																		OR2A9P_uc003wec.1_Intron|OR2A7_uc003wef.2_3'UTR	0,1,1	1		benign(0.003)	p.V18I	NM_001005328	NP_001005328	T:0	tolerated(0.12)	0,1,1	OR2A7_HUMAN	OR2A7	HGNC	Q96R45	OR2A7_HUMAN					1	52	-	Melanoma(164;0.14)		UPI00000373F5	18			Extracellular (Potential).		SNV	OR2A7,missense_variant,p.Val18Ile,ENST00000493325,NM_001005328.1;ARHGEF35,intron_variant,,ENST00000543357,;OR2A1-AS1,intron_variant,,ENST00000463561,;OR2A1-AS1,intron_variant,,ENST00000476560,;OR2A1-AS1,intron_variant,,ENST00000487102,;OR2A1-AS1,intron_variant,,ENST00000478806,;RP4-545C24.1,intron_variant,,ENST00000460955,;OR2A1-AS1,intron_variant,,ENST00000489488,;OR2A1-AS1,intron_variant,,ENST00000461843,;OR2A1-AS1,upstream_gene_variant,,ENST00000498397,;	uc011kuc.1	c.52G>A	146/1116	2	2			c.52G>A						7	SNP	c.(52-54)GTT>ATT	41	41			ovary(1)	1	Broad	olfactory receptor, family 2, subfamily A,			143956670		0.498	ENSG00000243896	10792	g.chr7:143956670C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-82.449141	KEEP	20	28	-1	417	534	20	28	-1	71.517205	417	534	0.049088	1	0	0	0	0	1	0	0	0	--	--		0	T			OR2A9P_uc003wec.1_Intron|OR2A7_uc003wef.2_3'UTR	246	GBM-32-4211-TP	p.V18I	C	CTTGGGCCAACGGGAAATCCC	NM_001005328	NP_001005328	143956670	Q96R45	OR2A7_HUMAN	0			1	52	-	T	T	Melanoma(164;0.14)		Missense_Mutation	18			Extracellular (Potential).			
OR2AE1	0	broad.mit.edu	GRCh37	7	99474406	99474406	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-26-5132-01	TCGA-26-5132-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316368.2:c.251A>G	p.Asn84Ser	p.N84S	ENST00000316368	NM_001005276.1	84	aAc/aGc	0			1			C	N/S	uc003usc.1	protein_coding	YES	CCDS34696.1			251/972										0	c.(250-252)AAC>AGC			Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF196,Superfamily_domains:SSF81321	olfactory receptor, family 2, subfamily AE,				ENSP00000313936		1-Jan									COSM2156926	1-Jan	.		ENST00000316368	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000244623	g.chr7:99474406T>C	15087			MODERATE		1.42	low	getma.org/?cm=msa&ty=f&p=O2AE1_HUMAN&rb=1&re=138&var=N84S	getma.org/pdb.php?prot=O2AE1_HUMAN&from=1&to=138&var=N84S	getma.org/?cm=var&var=hg19,7,99474406,T,C&fts=all	N84S	--	--	1																																			1	1		benign(0.043)	p.N84S	NM_001005276	NP_001005276		tolerated(0.06)	1	O2AE1_HUMAN	OR2AE1	HGNC	Q8NHA4	O2AE1_HUMAN					1	251	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		UPI000004B1E7	84			Extracellular (Potential).		SNV	OR2AE1,missense_variant,p.Asn84Ser,ENST00000316368,NM_001005276.1;TRIM4,downstream_gene_variant,,ENST00000447480,;CYP3A52P,downstream_gene_variant,,ENST00000563326,;	uc003usc.1	c.251A>G	275/1071	3	3			c.251A>G						7	SNP	c.(250-252)AAC>AGC	49	49				0	Broad	olfactory receptor, family 2, subfamily AE,			99474406		0.468	ENSG00000244623	10793	g.chr7:99474406T>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							181.277442	KEEP	30	37	-1	86	77	30	37	-1	189.897811	86	77	0.282178	1	0	0	0	0	1	0	0	0	--	--		0	C				181	GBM-26-5132-TP	p.N84S	T	AGATAGGTAGTTGGTAGCCAT	NM_001005276	NP_001005276	99474406	Q8NHA4	O2AE1_HUMAN	0			1	251	-	C	C	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		Missense_Mutation	84			Extracellular (Potential).			
OR2AG1	144125	broad.mit.edu	GRCh37	11	6807033	6807033	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-02-2486-01	TCGA-02-2486-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307401.4:c.765C>G	p.Ala255=	p.A255=	ENST00000307401	NM_001004489.2	255	gcC/gcG	0			1			G	A	uc001mer.1	protein_coding	YES	CCDS31414.1			765/951									central_nervous_system(1)	1	c.(763-765)GCC>GCG			Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF183,PROSITE_profiles:PS50262	olfactory receptor, family 2, subfamily AG,				ENSP00000307447		1-Jan									COSM3398084	1-Jan	.		ENST00000307401	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000170803	g.chr11:6807033C>G	15142			LOW								--	--	1																																			1	1			p.A255A	NM_001004489	NP_001004489			1	O2AG1_HUMAN	OR2AG1	HGNC	Q9H205	O2AG1_HUMAN		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)			1	765	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	UPI00000015AF	255			Helical; Name=6; (Potential).		SNV	OR2AG1,synonymous_variant,p.=,ENST00000307401,NM_001004489.2;	uc001mer.1	c.765C>G	786/998	3	3			c.765C>G						11	SNP	c.(763-765)GCC>GCG	49	49			central_nervous_system(1)	1	Broad	olfactory receptor, family 2, subfamily AG,			6807033		0.488	ENSG00000170803	10794	g.chr11:6807033C>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							154.282048	KEEP	29	25	-1	57	41	29	25	-1	155.069296	57	41	0.414634	1	0	0	0	0	0	0	1	0	--	--		0	G				8	GBM-02-2486-TP	p.A255A	C	ATGGAGCTGCCACATTCATGT	NM_001004489	NP_001004489	6807033	Q9H205	O2AG1_HUMAN	0		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	765	+	G	G		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	Silent	255			Helical; Name=6; (Potential).			
OR2AT4	0	broad.mit.edu	GRCh37	11	74799893	74799893	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-27-2524-01	TCGA-27-2524-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305159.3:c.866T>A	p.Ile289Asn	p.I289N	ENST00000305159	NM_001005285.1	289	aTt/aAt	0			1			T	I/N	uc010rro.1	protein_coding	YES	CCDS31639.1			866/963									ovary(1)	1	c.(865-867)ATT>AAT			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF15,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00245	olfactory receptor, family 2, subfamily AT,				ENSP00000304846		1-Jan									COSM3398132	1-Jan	.		ENST00000305159	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000171561	g.chr11:74799893A>T	19620			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=O2AT4_HUMAN&rb=46&re=295&var=I289N	getma.org/pdb.php?prot=O2AT4_HUMAN&from=46&to=295&var=I289N	getma.org/?cm=var&var=hg19,11,74799893,A,T&fts=all	I289N	--	--	1																																			1	1		possibly_damaging(0.555)	p.I289N	NM_001005285	NP_001005285		deleterious(0)	1	O2AT4_HUMAN	OR2AT4	HGNC	A6NND4	O2AT4_HUMAN					1	866	-			UPI0000061FA5	289			Helical; Name=7; (Potential).		SNV	OR2AT4,missense_variant,p.Ile289Asn,ENST00000305159,NM_001005285.1;	uc010rro.1	c.866T>A	907/1042	2	2			c.866T>A						11	SNP	c.(865-867)ATT>AAT	47	47			ovary(1)	1	Broad	olfactory receptor, family 2, subfamily AT,			74799893		0.488	ENSG00000171561	10797	g.chr11:74799893A>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-45.374099	KEEP	2	2	-1	128	95	2	2	-1	6.888273	128	95	0.019802	1	0	0	0	0	1	0	0	0	--	--		0	T				202	GBM-27-2524-TP	p.I289N	A	GGGGTTGAGAATTGGTGTGAG	NM_001005285	NP_001005285	74799893	A6NND4	O2AT4_HUMAN	0			1	866	-	T	T			Missense_Mutation	289			Helical; Name=7; (Potential).			
OR2B3	442184	broad.mit.edu	GRCh37	6	29054831	29054831	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0649-01	TCGA-06-0649-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377173.2:c.195T>A	p.Asn65Lys	p.N65K	ENST00000377173	NM_001005226.2	65	aaT/aaA	0			1			T	N/K	uc003nlx.2	protein_coding	YES	CCDS34358.1			195/942									skin(1)	1	c.(193-195)AAT>AAA			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF103,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 2, subfamily B,				ENSP00000366378		1-Jan									COSM3410875	1-Jan	.		ENST00000377173	Transcript						ENSG00000204703	g.chr6:29054831A>T	8238			MODERATE		3.28	medium	getma.org/?cm=msa&ty=f&p=OR2B3_HUMAN&rb=1&re=138&var=N65K	getma.org/pdb.php?prot=OR2B3_HUMAN&from=1&to=138&var=N65K	getma.org/?cm=var&var=hg19,6,29054831,A,T&fts=all	N65K	--	--	1																																			1	1		possibly_damaging(0.844)	p.N65K	NM_001005226	NP_001005226		deleterious(0)	1	OR2B3_HUMAN	OR2B3	HGNC							1	260	-			UPI0000041DB9						SNV	OR2B3,missense_variant,p.Asn65Lys,ENST00000377173,NM_001005226.2;	uc003nlx.2	c.195T>A	260/1106	1	1			c.195T>A						6	SNP	c.(193-195)AAT>AAA	4	4			skin(1)	1	Broad	olfactory receptor, family 2, subfamily B,			29054831		0.398	ENSG00000204703	10800	g.chr6:29054831A>T										-6.703344	KEEP	2	4	-1	52	52	2	4	-1	13.24257	52	52	0.060606	1	0	0	0	0	1	0	0	0	--	--		0	T				62	GBM-06-0649-TP	p.N65K	A	AGATGGAGAGATTAGTGAGAA	NM_001005226	NP_001005226	29054831			0			1	260	-	T	T			Missense_Mutation							
OR2B6	26212		GRCh37	6	27925491	27925491	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000244623.1:c.473G>T	p.Trp158Leu	p.W158L	ENST00000244623	NM_012367.1	158	tGg/tTg	0																																																																																																																																																																																																																																												
OR2F1	0	broad.mit.edu	GRCh37	7	143657660	143657660	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-1597-01	TCGA-12-1597-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392899.1:c.597C>T	p.Ile199=	p.I199=	ENST00000392899	NM_012369.2	199	atC/atT	0			1			T	I	uc003wds.1	protein_coding	YES	CCDS5887.1			597/954									skin(2)|ovary(1)	3	c.(595-597)ATC>ATT			PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF116,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 2, subfamily F,				ENSP00000376633		1-Jan									COSM3748361	1-Jan	.		ENST00000392899	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000213215	g.chr7:143657660C>T	8246			LOW								--	--	1																																			1	1			p.I199I	NM_012369	NP_036501			1	OR2F1_HUMAN	OR2F1	HGNC	Q13607	OR2F1_HUMAN					1	641	+	Melanoma(164;0.0903)		UPI000003FF87	199			Extracellular (Potential).		SNV	OR2F1,synonymous_variant,p.=,ENST00000392899,NM_012369.2;RP4-669B10.3,intron_variant,,ENST00000470988,;RP4-669B10.3,downstream_gene_variant,,ENST00000466281,;	uc003wds.1	c.597C>T	634/1082	2	2			c.597C>T						7	SNP	c.(595-597)ATC>ATT	18	18			skin(2)|ovary(1)	3	Broad	olfactory receptor, family 2, subfamily F,			143657660		0.478	ENSG00000213215	10806	g.chr7:143657660C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-26.395922	KEEP	3	3	-1	74	90	3	3	-1	11.229677	74	90	0.037037	1	0	0	0	0	0	0	1	0	--	--		0	T				124	GBM-12-1597-TP	p.I199I	C	AGGTCACCATCATGGTGTCTA	NM_012369	NP_036501	143657660	Q13607	OR2F1_HUMAN	0			1	641	+	T	T	Melanoma(164;0.0903)		Silent	199			Extracellular (Potential).			
OR2F2	135948	broad.mit.edu	GRCh37	7	143632696	143632696	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0130-01	TCGA-06-0130-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408955.2:c.371T>G	p.Val124Gly	p.V124G	ENST00000408955	NM_001004685.1	124	gTg/gGg	0			1			G	V/G	uc011ktv.1	protein_coding	YES	CCDS43666.1			371/954									ovary(3)|skin(1)	4	c.(370-372)GTG>GGG			Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,PROSITE_patterns:PS00237,hmmpanther:PTHR26453:SF63,hmmpanther:PTHR26453,PROSITE_profiles:PS50262	olfactory receptor, family 2, subfamily F,				ENSP00000386222		1-Jan									COSM3748360	1-Jan	.		ENST00000408955	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000221910	g.chr7:143632696T>G	8247			MODERATE		3.61	high	getma.org/?cm=msa&ty=f&p=OR2F2_HUMAN&rb=1&re=138&var=V124G	getma.org/pdb.php?prot=OR2F2_HUMAN&from=1&to=138&var=V124G	getma.org/?cm=var&var=hg19,7,143632696,T,G&fts=all	V124G	--	--	1																																			1	1		possibly_damaging(0.594)	p.V124G	NM_001004685	NP_001004685		deleterious(0)	1	OR2F2_HUMAN	OR2F2	HGNC	O95006	OR2F2_HUMAN					1	371	+	Melanoma(164;0.0903)		UPI0000041C25	124			Cytoplasmic (Potential).		SNV	OR2F2,missense_variant,p.Val124Gly,ENST00000408955,NM_001004685.1;	uc011ktv.1	c.371T>G	438/1114	3	3			c.371T>G						7	SNP	c.(370-372)GTG>GGG	51	51			ovary(3)|skin(1)	4	Broad	olfactory receptor, family 2, subfamily F,			143632696		0.562	ENSG00000221910	10807	g.chr7:143632696T>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							25.367887	KEEP	13	9	-1	91	83	13	9	-1	49.987587	91	83	0.10625	1	0	0	0	0	1	0	0	0	--	--		0	G				16	GBM-06-0130-TP	p.V124G	T	GACCGCCATGTGGCTGTGTCT	NM_001004685	NP_001004685	143632696	O95006	OR2F2_HUMAN	0			1	371	+	G	G	Melanoma(164;0.0903)		Missense_Mutation	124			Cytoplasmic (Potential).			
OR2F2	135948	broad.mit.edu	GRCh37	7	143632969	143632969	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0173-01	TCGA-06-0173-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408955.2:c.644T>A	p.Leu215Gln	p.L215Q	ENST00000408955	NM_001004685.1	215	cTg/cAg	0			1			A	L/Q	uc011ktv.1	protein_coding	YES	CCDS43666.1			644/954									ovary(3)|skin(1)	4	c.(643-645)CTG>CAG			Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26453:SF63,hmmpanther:PTHR26453,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	olfactory receptor, family 2, subfamily F,				ENSP00000386222		1-Jan									COSM2150385	1-Jan	.		ENST00000408955	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000221910	g.chr7:143632969T>A	8247			MODERATE		3.6	high	getma.org/?cm=msa&ty=f&p=OR2F2_HUMAN&rb=139&re=283&var=L215Q	NA	getma.org/?cm=var&var=hg19,7,143632969,T,A&fts=all	L215Q	--	--	1																																			1	1		probably_damaging(0.992)	p.L215Q	NM_001004685	NP_001004685		deleterious(0)	1	OR2F2_HUMAN	OR2F2	HGNC	O95006	OR2F2_HUMAN					1	644	+	Melanoma(164;0.0903)		UPI0000041C25	215			Helical; Name=5; (Potential).		SNV	OR2F2,missense_variant,p.Leu215Gln,ENST00000408955,NM_001004685.1;	uc011ktv.1	c.644T>A	711/1114	1	1			c.644T>A						7	SNP	c.(643-645)CTG>CAG	51	51			ovary(3)|skin(1)	4	Broad	olfactory receptor, family 2, subfamily F,			143632969		0.517	ENSG00000221910	10807	g.chr7:143632969T>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							84.989204	KEEP	15	21	-1	67	67	15	21	-1	95.63253	67	67	0.221477	1	0	0	0	0	1	0	0	0	--	--		0	A				36	GBM-06-0173-TP	p.L215Q	T	TGCCTGGTTCTGTTGTCCTAC	NM_001004685	NP_001004685	143632969	O95006	OR2F2_HUMAN	0			1	644	+	A	A	Melanoma(164;0.0903)		Missense_Mutation	215			Helical; Name=5; (Potential).			
OR2F2	0	broad.mit.edu	GRCh37	7	143632553	143632553	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5951-01	TCGA-19-5951-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408955.2:c.228C>T	p.Ser76=	p.S76=	ENST00000408955	NM_001004685.1	76	agC/agT	0	T:0		1			T	S	uc011ktv.1	protein_coding	YES	CCDS43666.1			228/954									ovary(3)|skin(1)	4	c.(226-228)AGC>AGT			Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF63,hmmpanther:PTHR26453,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	olfactory receptor, family 2, subfamily F,			T:0.0001	ENSP00000386222		1-Jan	5.77E-05				0.000151	4.50E-05		0.000182	rs377643542,COSM2156654	1-Jan	.		ENST00000408955	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000221910	g.chr7:143632553C>T	8247			LOW								--	--	1																																			0,1	1			p.S76S	NM_001004685	NP_001004685			0,1	OR2F2_HUMAN	OR2F2	HGNC	O95006	OR2F2_HUMAN					1	228	+	Melanoma(164;0.0903)		UPI0000041C25	76			Helical; Name=2; (Potential).		SNV	OR2F2,synonymous_variant,p.=,ENST00000408955,NM_001004685.1;	uc011ktv.1	c.228C>T	295/1114	1	1			c.228C>T						7	SNP	c.(226-228)AGC>AGT	12	12			ovary(3)|skin(1)	4	Broad	olfactory receptor, family 2, subfamily F,			143632553		0.517	ENSG00000221910	10807	g.chr7:143632553C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							289.381024	KEEP	47	70	-1	72	73	47	70	-1	290.3163	72	73	0.430493	1	0	0	0	0	0	0	1	0	--	--		0	T				171	GBM-19-5951-TP	p.S76S	C	ATGCCACAAGCGTAGTCCCCC	NM_001004685	NP_001004685	143632553	O95006	OR2F2_HUMAN	0			1	228	+	T	T	Melanoma(164;0.0903)		Silent	76			Helical; Name=2; (Potential).			
OR2F2	0	broad.mit.edu	GRCh37	7	143632582	143632582	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-26-5136-01	TCGA-26-5136-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408955.2:c.257T>C	p.Leu86Pro	p.L86P	ENST00000408955	NM_001004685.1	86	cTt/cCt	0			1			C	L/P	uc011ktv.1	protein_coding	YES	CCDS43666.1			257/954									ovary(3)|skin(1)	4	c.(256-258)CTT>CCT			Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF63,hmmpanther:PTHR26453,PROSITE_profiles:PS50262	olfactory receptor, family 2, subfamily F,				ENSP00000386222		1-Jan									COSM2157123	1-Jan	.		ENST00000408955	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000221910	g.chr7:143632582T>C	8247			MODERATE		3.27	medium	getma.org/?cm=msa&ty=f&p=OR2F2_HUMAN&rb=1&re=138&var=L86P	getma.org/pdb.php?prot=OR2F2_HUMAN&from=1&to=138&var=L86P	getma.org/?cm=var&var=hg19,7,143632582,T,C&fts=all	L86P	--	--	1																																			1	1		probably_damaging(0.996)	p.L86P	NM_001004685	NP_001004685		deleterious(0.01)	1	OR2F2_HUMAN	OR2F2	HGNC	O95006	OR2F2_HUMAN					1	257	+	Melanoma(164;0.0903)		UPI0000041C25	86			Extracellular (Potential).		SNV	OR2F2,missense_variant,p.Leu86Pro,ENST00000408955,NM_001004685.1;	uc011ktv.1	c.257T>C	324/1114	3	3			c.257T>C						7	SNP	c.(256-258)CTT>CCT	49	49			ovary(3)|skin(1)	4	Broad	olfactory receptor, family 2, subfamily F,			143632582		0.522	ENSG00000221910	10807	g.chr7:143632582T>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							675.626144	KEEP	100	115	-1	246	275	100	115	-1	696.060256	246	275	0.310345	1	0	0	0	0	1	0	0	0	--	--		0	C				185	GBM-26-5136-TP	p.L86P	T	GCACATTTTCTTGCAGAACAT	NM_001004685	NP_001004685	143632582	O95006	OR2F2_HUMAN	0			1	257	+	C	C	Melanoma(164;0.0903)		Missense_Mutation	86			Extracellular (Potential).			
OR2H1	26716	broad.mit.edu	GRCh37	6	29430405	29430405	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01	TCGA-06-0686-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377136.1:c.859G>A	p.Val287Ile	p.V287I	ENST00000377136		287	Gta/Ata	0			1			A	V/I	uc003nmi.2	protein_coding		CCDS4660.1			859/951										0	c.(859-861)GTA>ATA			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF190,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245,Prints_domain:PR00237	olfactory receptor, family 2, subfamily H,				ENSP00000366336		3-Feb	1.70E-05					3.16E-05			rs759165826,COSM1736698	3-Feb	.		ENST00000377132	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000204688	g.chr6:29430405G>A	8252			MODERATE		-0.965	neutral	getma.org/?cm=msa&ty=f&p=OR2H1_HUMAN&rb=282&re=316&var=V287I	NA	getma.org/?cm=var&var=hg19,6,29430405,G,A&fts=all	V287I	--	--	1																																		OR2H1_uc003nmj.1_Missense_Mutation_p.V287I|OR2H1_uc010jri.1_Missense_Mutation_p.V209I	0,1			benign(0.001)	p.V287I	NM_030883	NP_112145		tolerated(1)	0,1	OR2H1_HUMAN	OR2H1	HGNC	Q9GZK4	OR2H1_HUMAN			Q8IU63_HUMAN		3	1302	+			UPI000000DCA7	287			Helical; Name=7; (Potential).		SNV	OR2H1,missense_variant,p.Val287Ile,ENST00000377136,;OR2H1,missense_variant,p.Val287Ile,ENST00000377133,NM_030883.3;OR2H1,missense_variant,p.Val287Ile,ENST00000442615,;OR2H1,missense_variant,p.Val287Ile,ENST00000377132,;OR2H1,missense_variant,p.Val287Ile,ENST00000396792,;OR2H1,non_coding_transcript_exon_variant,,ENST00000473369,;OR2H1,non_coding_transcript_exon_variant,,ENST00000484554,;OR2H1,downstream_gene_variant,,ENST00000484371,;UBDP1,downstream_gene_variant,,ENST00000457888,;	uc003nmi.2	c.859G>A	1568/2253	1	1			c.859G>A						6	SNP	c.(859-861)GTA>ATA	61	61				0	Broad	olfactory receptor, family 2, subfamily H,			29430405		0.493	ENSG00000204688	10811	g.chr6:29430405G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							69.312624	KEEP	24	10	-1	57	37	24	10	-1	76.261643	57	37	0.245763	1	0	0	0	0	1	0	0	0	--	--		0	A			OR2H1_uc003nmj.1_Missense_Mutation_p.V287I|OR2H1_uc010jri.1_Missense_Mutation_p.V209I	64	GBM-06-0686-TP	p.V287I	G	TAACCCTCTCGTATACACCCT	NM_030883	NP_112145	29430405	Q9GZK4	OR2H1_HUMAN	0			3	1302	+	A	A			Missense_Mutation	287			Helical; Name=7; (Potential).			
OR2H1	26716	broad.mit.edu	GRCh37	6	29430405	29430405	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0749-01	TCGA-06-0749-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377136.1:c.859G>A	p.Val287Ile	p.V287I	ENST00000377136		287	Gta/Ata	0			1			A	V/I	uc003nmi.2	protein_coding		CCDS4660.1			859/951										0	c.(859-861)GTA>ATA			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF190,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245,Prints_domain:PR00237	olfactory receptor, family 2, subfamily H,				ENSP00000366336		3-Feb	1.70E-05					3.16E-05			rs759165826,COSM1736698	3-Feb	.		ENST00000377132	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000204688	g.chr6:29430405G>A	8252			MODERATE		-0.965	neutral	getma.org/?cm=msa&ty=f&p=OR2H1_HUMAN&rb=282&re=316&var=V287I	NA	getma.org/?cm=var&var=hg19,6,29430405,G,A&fts=all	V287I	--	--	1																																		OR2H1_uc003nmj.1_Missense_Mutation_p.V287I|OR2H1_uc010jri.1_Missense_Mutation_p.V209I	0,1			benign(0.001)	p.V287I	NM_030883	NP_112145		tolerated(1)	0,1	OR2H1_HUMAN	OR2H1	HGNC	Q9GZK4	OR2H1_HUMAN			Q8IU63_HUMAN		3	1302	+			UPI000000DCA7	287			Helical; Name=7; (Potential).		SNV	OR2H1,missense_variant,p.Val287Ile,ENST00000377136,;OR2H1,missense_variant,p.Val287Ile,ENST00000377133,NM_030883.3;OR2H1,missense_variant,p.Val287Ile,ENST00000442615,;OR2H1,missense_variant,p.Val287Ile,ENST00000377132,;OR2H1,missense_variant,p.Val287Ile,ENST00000396792,;OR2H1,non_coding_transcript_exon_variant,,ENST00000473369,;OR2H1,non_coding_transcript_exon_variant,,ENST00000484554,;OR2H1,downstream_gene_variant,,ENST00000484371,;UBDP1,downstream_gene_variant,,ENST00000457888,;	uc003nmi.2	c.859G>A	1568/2253	1	1			c.859G>A						6	SNP	c.(859-861)GTA>ATA	61	61				0	Broad	olfactory receptor, family 2, subfamily H,			29430405		0.493	ENSG00000204688	10811	g.chr6:29430405G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							111.324653	KEEP	22	16	-1	38	25	22	16	-1	112.682743	38	25	0.376238	1	0	0	0	0	1	0	0	0	--	--		0	A			OR2H1_uc003nmj.1_Missense_Mutation_p.V287I|OR2H1_uc010jri.1_Missense_Mutation_p.V209I	69	GBM-06-0749-TP	p.V287I	G	TAACCCTCTCGTATACACCCT	NM_030883	NP_112145	29430405	Q9GZK4	OR2H1_HUMAN	0			3	1302	+	A	A			Missense_Mutation	287			Helical; Name=7; (Potential).			
OR2J3	0	broad.mit.edu	GRCh37	6	29080438	29080438	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-4157-01	TCGA-14-4157-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377169.1:c.771G>A	p.Pro257=	p.P257=	ENST00000377169	NM_001005216.3	257	ccG/ccA	0		A:0.0008	1	A:0		A	P	uc011dll.1	protein_coding	YES	CCDS43433.1			771/936										0	c.(769-771)CCG>CCA			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF209,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 2, subfamily J,		A:0		ENSP00000366374	A:0	1-Jan	6.62E-05	0.000106	8.67E-05	0.000116		1.52E-05		0.000242	rs556178725,COSM3410878	1-Jan	.		ENST00000377169	Transcript	1	A:0.0004	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000204701	g.chr6:29080438G>A	8261			LOW								--	--	1																																			0,1	1			p.P257P	NM_001005216	NP_001005216	A:0.001		0,1	OR2J3_HUMAN	OR2J3	HGNC	O76001	OR2J3_HUMAN					1	771	+			UPI000014073A	257			Helical; Name=6; (Potential).		SNV	OR2J3,synonymous_variant,p.=,ENST00000377169,NM_001005216.3;	uc011dll.1	c.771G>A	771/936	2	2			c.771G>A						6	SNP	c.(769-771)CCG>CCA	48	48				0	Broad	olfactory receptor, family 2, subfamily J,			29080438		0.458	ENSG00000204701	10814	g.chr6:29080438G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							235.896291	KEEP	40	58	-1	50	63	40	58	-1	236.216755	50	63	0.452941	1	0	0	0	0	0	0	1	0	--	--		0	A				152	GBM-14-4157-TP	p.P257P	G	TTTTCATTCCGGCCATGTGCA	NM_001005216	NP_001005216	29080438	O76001	OR2J3_HUMAN	0			1	771	+	A	A			Silent	257			Helical; Name=6; (Potential).			
OR2J3	0	broad.mit.edu	GRCh37	6	29080039	29080039	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-3393-01	TCGA-41-3393-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377169.1:c.372C>T	p.Asp124=	p.D124=	ENST00000377169	NM_001005216.3	124	gaC/gaT	0			1			T	D	uc011dll.1	protein_coding	YES	CCDS43433.1			372/936										0	c.(370-372)GAC>GAT			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF209,Superfamily_domains:SSF81321	olfactory receptor, family 2, subfamily J,				ENSP00000366374		1-Jan	4.13E-05		8.64E-05	0.000116		4.51E-05			rs757035122,COSM3410876	1-Jan	.		ENST00000377169	Transcript	1		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000204701	g.chr6:29080039C>T	8261			LOW								--	--	1																																			0,1	1			p.D124D	NM_001005216	NP_001005216			0,1	OR2J3_HUMAN	OR2J3	HGNC	O76001	OR2J3_HUMAN					1	372	+			UPI000014073A	124			Cytoplasmic (Potential).		SNV	OR2J3,synonymous_variant,p.=,ENST00000377169,NM_001005216.3;	uc011dll.1	c.372C>T	372/936	1	1			c.372C>T						6	SNP	c.(370-372)GAC>GAT	11	11				0	Broad	olfactory receptor, family 2, subfamily J,			29080039		0.488	ENSG00000204701	10814	g.chr6:29080039C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							344.293022	KEEP	87	73	-1	226	232	87	73	-1	373.086725	226	232	0.257407	1	0	0	0	0	0	0	1	0	--	--		0	T				255	GBM-41-3393-TP	p.D124D	C	TGTCCTATGACCGTTATGCAG	NM_001005216	NP_001005216	29080039	O76001	OR2J3_HUMAN	0			1	372	+	T	T			Silent	124			Cytoplasmic (Potential).			
OR2K2	26248	broad.mit.edu	GRCh37	9	114090506	114090506	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0876-01	TCGA-06-0876-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302681.1:c.208G>A	p.Asp70Asn	p.D70N	ENST00000302681	NM_205859.1	70	Gat/Aat	0			1			T	D/N	uc011lwp.1	protein_coding					295/1038									ovary(1)	1	c.(208-210)GAT>AAT			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF198,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 2, subfamily K,				ENSP00000363550		1-Jan									COSM2152074,COSM2152075	1-Jan	.		ENST00000374428	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000171133	g.chr9:114090506C>T	8264			MODERATE		3.47	medium	getma.org/?cm=msa&ty=f&p=OR2K2_HUMAN&rb=1&re=167&var=D99N	getma.org/pdb.php?prot=OR2K2_HUMAN&from=1&to=167&var=D99N	getma.org/?cm=var&var=hg19,9,114090506,C,T&fts=all	D99N	--	--	1																																			1,1			probably_damaging(1)	p.D70N	NM_205859	NP_995581		deleterious(0)	1,1	OR2K2_HUMAN	OR2K2	HGNC	Q8NGT1	OR2K2_HUMAN					1	208	-			UPI000004B1D6	99			Helical; Name=2; (Potential).		SNV	OR2K2,missense_variant,p.Asp99Asn,ENST00000374428,;OR2K2,missense_variant,p.Asp70Asn,ENST00000302681,NM_205859.1;	uc011lwp.1	c.208G>A	295/1038	2	2			c.208G>A						9	SNP	c.(208-210)GAT>AAT	17	17			ovary(1)	1	Broad	olfactory receptor, family 2, subfamily K,			114090506		0.418	ENSG00000171133	10815	g.chr9:114090506C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							129.58414	KEEP	20	29	-1	40	25	20	29	-1	130.135761	40	25	0.421569	1	0	0	0	0	1	0	0	0	--	--		0	T				72	GBM-06-0876-TP	p.D70N	C	TAACAAATATCCATGAAAGAG	NM_205859	NP_995581	114090506	Q8NGT1	OR2K2_HUMAN	0			1	208	-	T	T			Missense_Mutation	99			Helical; Name=2; (Potential).			
OR2K2	0	broad.mit.edu	GRCh37	9	114090010	114090010	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01	TCGA-19-1790-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374428.1:c.791A>G	p.Lys264Arg	p.K264R	ENST00000374428		264	aAg/aGg	0			1			C	K/R	uc011lwp.1	protein_coding					791/1038									ovary(1)	1	c.(703-705)AAG>AGG			PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF198,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	olfactory receptor, family 2, subfamily K,				ENSP00000363550		1-Jan									COSM2156071,COSM2156072	1-Jan	.		ENST00000374428	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000171133	g.chr9:114090010T>C	8264			MODERATE		2.525	medium	getma.org/?cm=msa&ty=f&p=OR2K2_HUMAN&rb=168&re=311&var=K264R	NA	getma.org/?cm=var&var=hg19,9,114090010,T,C&fts=all	K264R	--	--	1																																			1,1			possibly_damaging(0.85)	p.K235R	NM_205859	NP_995581		deleterious(0.02)	1,1	OR2K2_HUMAN	OR2K2	HGNC	Q8NGT1	OR2K2_HUMAN					1	704	-			UPI000004B1D6	264			Cytoplasmic (Potential).		SNV	OR2K2,missense_variant,p.Lys264Arg,ENST00000374428,;OR2K2,missense_variant,p.Lys235Arg,ENST00000302681,NM_205859.1;	uc011lwp.1	c.704A>G	791/1038	3	3			c.704A>G						9	SNP	c.(703-705)AAG>AGG	12	12			ovary(1)	1	Broad	olfactory receptor, family 2, subfamily K,			114090010		0.423	ENSG00000171133	10815	g.chr9:114090010T>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							72.308631	KEEP	5	22	-1	45	58	5	22	-1	81.959735	45	58	0.206612	1	0	0	0	0	1	0	0	0	--	--		0	C				160	GBM-19-1790-TP	p.K235R	T	AGAAAAAGCCTTGTTTCTTCC	NM_205859	NP_995581	114090010	Q8NGT1	OR2K2_HUMAN	0			1	704	-	C	C			Missense_Mutation	264			Cytoplasmic (Potential).			
OR2L13	284521		GRCh37	1	248263535	248263535	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000366478.2:c.858C>A	p.Pro286=	p.P286=	ENST00000366478	NM_175911.2	286	ccC/ccA	0																																																																																																																																																																																																																																												
OR2L1P	26247		GRCh37	1	248154287	248154287	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000422727.2:n.719T>C		p.*240*	ENST00000422727				0																																																																																																																																																																																																																																												
OR2L2	0	broad.mit.edu	GRCh37	1	248202093	248202094	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-81-5910-01	TCGA-81-5910-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366479.2:c.530dupT	p.Cys178LeufsTer2	p.C178Lfs*2	ENST00000366479	NM_001004686.2	175	cat/caTt	0			1			T	H/HX	uc001idw.2	protein_coding	YES	CCDS31103.1			524-525/939									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(523-525)CATfs			PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF189,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	olfactory receptor, family 2, subfamily L,				ENSP00000355435		1-Jan									COSM1341068	1-Jan	.		ENST00000366479	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000203663	g.chr1:248202093_248202094insT	8266	6		HIGH								--	--	1																																		OR2L13_uc001ids.2_Intron	1	1			p.H175fs	NM_001004686	NP_001004686			1	OR2L2_HUMAN	OR2L2	HGNC	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)				1	620_621	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		UPI0000061EAA	175			Extracellular (Potential).		insertion	OR2L2,frameshift_variant,p.Cys178LeufsTer2,ENST00000366479,NM_001004686.2;OR2L13,intron_variant,,ENST00000366478,NM_175911.2;	uc001idw.2	c.524_525insT	620-621/1134	5	5			c.524_525insT						1	INS	c.(523-525)CATfs	NaN	0			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	olfactory receptor, family 2, subfamily L,			248202094		0.431	ENSG00000203663	10817	g.chr1:248202093_248202094insT	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity																				0.36	1	0	0	1	1	0	0	0	0	--	--		0	T			OR2L13_uc001ids.2_Intron	289	GBM-81-5910-TP	p.H175fs	-	GCCATCAATCATTTTTTCTGTG	NM_001004686	NP_001004686	248202093	Q8NH16	OR2L2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	620_621	+	T	T	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		Frame_Shift_Ins	175			Extracellular (Potential).			
OR2L3	391192		GRCh37	1	248224277	248224277	+	synonymous_variant	Silent	SNP	T	T	A			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000359959.3:c.294T>A	p.Ile98=	p.I98=	ENST00000359959	NM_001004687.1	98	atT/atA	0																																																																																																																																																																																																																																												
OR2L3	391192		GRCh37	1	248224733	248224733	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000359959.3:c.750C>A	p.Tyr250Ter	p.Y250*	ENST00000359959	NM_001004687.1	250	taC/taA	0																																																																																																																																																																																																																																												
OR2M2	391194		GRCh37	1	248344248	248344248	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000359682.2:c.961T>A	p.Leu321Met	p.L321M	ENST00000359682	NM_001004688.1	321	Ttg/Atg	0																																																																																																																																																																																																																																												
OR2T11	127077		GRCh37	1	248789661	248789661	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000330803.2:c.769G>A	p.Val257Met	p.V257M	ENST00000330803	NM_001001964.1	257	Gtg/Atg	0																																																																																																																																																																																																																																												
OR2T2	0	broad.mit.edu	GRCh37	1	248616705	248616711	+	frameshift_variant	Frame_Shift_Del	DEL	TGCTGCG	TGCTGCG	-			TCGA-14-0813-01	TCGA-14-0813-01	TGCTGCG	TGCTGCG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342927.3:c.612_618delCGTGCTG	p.Cys204Ter	p.C204*	ENST00000342927	NM_001004136.1	203	TGCTGCGtg/tg	0	G:0		1			-	CCV/X	uc001iek.1	protein_coding	YES	CCDS31116.1			607-613/975									skin(1)	1	c.(607-615)TGCTGCGTGfs			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF18,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 2, subfamily T,			G:0.0001	ENSP00000343062		1-Jan	0.0281	0.00983	0.0192	0.0332	0.0269	0.0231	0.0327	0.0392	rs199823862,COSM907330	1-Jan	common_variant		ENST00000342927	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000196240	g.chr1:248616705_248616711delTGCTGCG	14725	5		HIGH								--	--	1																																			0,1	1			p.C203fs	NM_001004136	NP_001004136			0,1	OR2T2_HUMAN	OR2T2	HGNC	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)				1	607_613	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		UPI0000048DB0	203_205			Helical; Name=5; (Potential).		deletion	OR2T2,frameshift_variant,p.Cys204Ter,ENST00000342927,NM_001004136.1;	uc001iek.1	c.607_613delTGCTGCG	629-635/1054	5	5			c.607_613delTGCTGCG						1	DEL	c.(607-615)TGCTGCGTGfs	NaN	0			skin(1)	1	Broad	olfactory receptor, family 2, subfamily T,			248616711		0.527	ENSG00000196240	10830	g.chr1:248616705_248616711delTGCTGCG	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity																				0.06	1	1	0	1	0	0	0	0	0	--	--		0	-				138	GBM-14-0813-TP	p.C203fs	TGCTGCG	GATGTATGCCTGCTGCGTGCTGATGCT	NM_001004136	NP_001004136	248616705	Q6IF00	OR2T2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	607_613	+	-	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		Frame_Shift_Del	203_205			Helical; Name=5; (Potential).			
OR2T3	0	broad.mit.edu	GRCh37	1	248636836	248636836	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-12-0688-01	TCGA-12-0688-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359594.2:c.189delC	p.Met64CysfsTer18	p.M64Cfs*18	ENST00000359594	NM_001005495.1	62	aCc/ac	0			1			-	T/X	uc001iel.1	protein_coding	YES	CCDS31117.1			185/957									skin(1)	1	c.(184-186)ACCfs			PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF4,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 2, subfamily T,				ENSP00000352604		1-Jan										1-Jan	.		ENST00000359594	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000196539	g.chr1:248636836delC	14727	4		HIGH								--	--	1																																				1			p.T62fs	NM_001005495	NP_001005495				OR2T3_HUMAN	OR2T3	HGNC	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)				1	185	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		UPI00001D7CA5	62			Cytoplasmic (Potential).		deletion	OR2T3,frameshift_variant,p.Met64CysfsTer18,ENST00000359594,NM_001005495.1;	uc001iel.1	c.185delC	210/1008	5	5			c.185delC						1	DEL	c.(184-186)ACCfs	NaN	0			skin(1)	1	Broad	olfactory receptor, family 2, subfamily T,			248636836		0.567	ENSG00000196539	10833	g.chr1:248636836delC	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity																				0.16	1	1	0	1	0	0	0	0	0	--	--		0	-				121	GBM-12-0688-TP	p.T62fs	C	CGCCTCCACACCCCCATGTAC	NM_001005495	NP_001005495	248636836	Q8NH03	OR2T3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	185	+	-	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		Frame_Shift_Del	62			Cytoplasmic (Potential).			
OR2T3	343173		GRCh37	1	248636975	248636975	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000359594.2:c.324C>T	p.Phe108=	p.F108=	ENST00000359594	NM_001005495.1	108	ttC/ttT	0																																																																																																																																																																																																																																												
OR2T33	391195		GRCh37	1	248436840	248436840	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000318021.2:c.277G>A	p.Ala93Thr	p.A93T	ENST00000318021	NM_001004695.1	93	Gct/Act	0																																																																																																																																																																																																																																												
OR2T34	0	broad.mit.edu	GRCh37	1	248737870	248737870	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-12-0688-01	TCGA-12-0688-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328782.2:c.189delC	p.Met64CysfsTer18	p.M64Cfs*18	ENST00000328782	NM_001001821.1	63	ccC/cc	0			1			-	P/X	uc001iep.1	protein_coding	YES	CCDS31120.1			189/957									large_intestine(1)|ovary(1)	2	c.(187-189)CCCfs			PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF4,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 2, subfamily T,				ENSP00000330904		1-Jan										1-Jan	.		ENST00000328782	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000183310	g.chr1:248737870delG	31256			HIGH								--	--	1																																				1			p.P63fs	NM_001001821	NP_001001821				O2T34_HUMAN	OR2T34	HGNC	Q8NGX1	O2T34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)				1	189	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		UPI0000061ED4	63			Helical; Name=2; (Potential).		deletion	OR2T34,frameshift_variant,p.Met64CysfsTer18,ENST00000328782,NM_001001821.1;	uc001iep.1	c.189delC	211/1059	5	5			c.189delC						1	DEL	c.(187-189)CCCfs	NaN	0			large_intestine(1)|ovary(1)	2	Broad	olfactory receptor, family 2, subfamily T,			248737870		0.562	ENSG00000183310	10835	g.chr1:248737870delG	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity																				0.28	1	1	0	1	0	0	0	0	0	--	--		0	-				121	GBM-12-0688-TP	p.P63fs	G	AGAAGTACATGGGGGTGTGGA	NM_001001821	NP_001001821	248737870	Q8NGX1	O2T34_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	189	-	-	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		Frame_Shift_Del	63			Helical; Name=2; (Potential).			
OR2T4	127074		GRCh37	1	248525822	248525822	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000366475.1:c.940A>T	p.Thr314Ser	p.T314S	ENST00000366475	NM_001004696.1	314	Act/Tct	0																																																																																																																																																																																																																																												
OR2V2	0	broad.mit.edu	GRCh37	5	180582407	180582407	+	synonymous_variant	Silent	SNP	C	C	T	rs149585637	byFrequency	TCGA-12-0616-01	TCGA-12-0616-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328275.1:c.465C>T	p.Ile155=	p.I155=	ENST00000328275	NM_206880.1	155	atC/atT	0			1			T	I	uc011dhj.1	protein_coding	YES	CCDS4461.1			465/948									ovary(1)|central_nervous_system(1)	2	c.(463-465)ATC>ATT			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF235,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 2, subfamily V,				ENSP00000332185		1-Jan									COSM2153546	1-Jan	.		ENST00000328275	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000182613	g.chr5:180582407C>T	15341			LOW								--	--	1																																			1	1			p.I155I	NM_206880	NP_996763			1	OR2V2_HUMAN	OR2V2	HGNC	Q96R30	OR2V2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)				1	465	+	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	UPI0000041C79	155			Helical; Name=4; (Potential).		SNV	OR2V2,synonymous_variant,p.=,ENST00000328275,NM_206880.1;	uc011dhj.1	c.465C>T	465/948	2	2			c.465C>T						5	SNP	c.(463-465)ATC>ATT	26	26			ovary(1)|central_nervous_system(1)	2	Broad	olfactory receptor, family 2, subfamily V,			180582407		0.493	ENSG00000182613	10841	g.chr5:180582407C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							340.672923	KEEP	58	63	-1	64	98	58	63	-1	341.909463	64	98	0.425197	1	0	0	0	0	0	0	1	0	--	--		0	T				118	GBM-12-0616-TP	p.I155I	C	TTGGGATAATCGATGGCTTGA	NM_206880	NP_996763	180582407	Q96R30	OR2V2_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	465	+	T	T	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Silent	155			Helical; Name=4; (Potential).			
OR2Y1	134083	broad.mit.edu	GRCh37	5	180166818	180166818	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0126-01	TCGA-06-0126-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307832.2:c.241C>T	p.Leu81Phe	p.L81F	ENST00000307832	NM_001001657.1	81	Ctc/Ttc	0			1			A	L/F	uc003mmf.1	protein_coding	YES	CCDS34323.1			241/936									central_nervous_system(1)	1	c.(241-243)CTC>TTC			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF178,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 2, subfamily Y,				ENSP00000312403		1-Jan									COSM2149416	1-Jan	.		ENST00000307832	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000174339	g.chr5:180166818G>A	14837			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=OR2Y1_HUMAN&rb=1&re=138&var=L81F	NA	getma.org/?cm=var&var=hg19,5,180166818,G,A&fts=all	L81F	--	--	1																																			1	1		probably_damaging(1)	p.L81F	NM_001001657	NP_001001657		deleterious(0.04)	1	OR2Y1_HUMAN	OR2Y1	HGNC	Q8NGV0	OR2Y1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)				1	241	-	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	UPI0000041BCE	81			Extracellular (Potential).		SNV	OR2Y1,missense_variant,p.Leu81Phe,ENST00000307832,NM_001001657.1;	uc003mmf.1	c.241C>T	282/1058	2	2			c.241C>T						5	SNP	c.(241-243)CTC>TTC	45	45			central_nervous_system(1)	1	Broad	olfactory receptor, family 2, subfamily Y,			180166818		0.587	ENSG00000174339	10845	g.chr5:180166818G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							83.673633	KEEP	19	12	-1	36	22	19	12	-1	85.150713	36	22	0.35443	1	0	0	0	0	1	0	0	0	--	--		0	A				13	GBM-06-0126-TP	p.L81F	G	TTGATCAGGAGCTGGGGCACG	NM_001001657	NP_001001657	180166818	Q8NGV0	OR2Y1_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	241	-	A	A	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Missense_Mutation	81			Extracellular (Potential).			
OR2Y1	0	broad.mit.edu	GRCh37	5	180166656	180166656	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-14-1450-01	TCGA-14-1450-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307832.2:c.403A>G	p.Ile135Val	p.I135V	ENST00000307832	NM_001001657.1	135	Atc/Gtc	0			1			C	I/V	uc003mmf.1	protein_coding	YES	CCDS34323.1			403/936									central_nervous_system(1)	1	c.(403-405)ATC>GTC			PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF178,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	olfactory receptor, family 2, subfamily Y,				ENSP00000312403		1-Jan									COSM3410195	1-Jan	.		ENST00000307832	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000174339	g.chr5:180166656T>C	14837			MODERATE		1.065	low	getma.org/?cm=msa&ty=f&p=OR2Y1_HUMAN&rb=1&re=138&var=I135V	NA	getma.org/?cm=var&var=hg19,5,180166656,T,C&fts=all	I135V	--	--	1																																			1	1		benign(0.005)	p.I135V	NM_001001657	NP_001001657		tolerated(0.14)	1	OR2Y1_HUMAN	OR2Y1	HGNC	Q8NGV0	OR2Y1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)				1	403	-	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	UPI0000041BCE	135			Cytoplasmic (Potential).		SNV	OR2Y1,missense_variant,p.Ile135Val,ENST00000307832,NM_001001657.1;	uc003mmf.1	c.403A>G	444/1058	3	3			c.403A>G						5	SNP	c.(403-405)ATC>GTC	6	6			central_nervous_system(1)	1	Broad	olfactory receptor, family 2, subfamily Y,			180166656		0.587	ENSG00000174339	10845	g.chr5:180166656T>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							5.159743	KEEP	3	3	-1	23	19	3	3	-1	10.889196	23	19	0.121951	1	0	0	0	0	1	0	0	0	--	--		0	C				145	GBM-14-1450-TP	p.I135V	T	GGGTGCATGATGGCCATGTAG	NM_001001657	NP_001001657	180166656	Q8NGV0	OR2Y1_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	403	-	C	C	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Missense_Mutation	135			Cytoplasmic (Potential).			
OR2Z1	0	broad.mit.edu	GRCh37	19	8841547	8841547	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-27-2521-01	TCGA-27-2521-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324060.2:c.157T>C	p.Ser53Pro	p.S53P	ENST00000324060	NM_001004699.1	53	Tcc/Ccc	0			1			C	S/P	uc010xkg.1	protein_coding	YES	CCDS32895.1			157/945									central_nervous_system(1)|skin(1)	2	c.(157-159)TCC>CCC			PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF96,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 2, subfamily Z,				ENSP00000316284		1-Jan									COSM3748080	1-Jan	.		ENST00000324060	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000181733	g.chr19:8841547T>C	15391			MODERATE		0.59	neutral	getma.org/?cm=msa&ty=f&p=OR2Z1_HUMAN&rb=1&re=138&var=S53P	getma.org/pdb.php?prot=OR2Z1_HUMAN&from=1&to=138&var=S53P	getma.org/?cm=var&var=hg19,19,8841547,T,C&fts=all	S53P	--	--	1																																			1	1		benign(0.004)	p.S53P	NM_001004699	NP_001004699		tolerated(0.44)	1	OR2Z1_HUMAN	OR2Z1	HGNC	Q8NG97	OR2Z1_HUMAN					1	157	+			UPI000003F225	53			Cytoplasmic (Potential).		SNV	OR2Z1,missense_variant,p.Ser53Pro,ENST00000324060,NM_001004699.1;RPL23AP78,upstream_gene_variant,,ENST00000599928,;	uc010xkg.1	c.157T>C	232/1056	4	4			c.157T>C						19	SNP	c.(157-159)TCC>CCC	43	43			central_nervous_system(1)|skin(1)	2	Broad	olfactory receptor, family 2, subfamily Z,			8841547		0.542	ENSG00000181733	10846	g.chr19:8841547T>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							404.278368	KEEP	64	65	-1	46	55	64	65	-1	404.951406	46	55	0.561576	1	0	0	0	0	1	0	0	0	--	--		0	C				200	GBM-27-2521-TP	p.S53P	T	CCGTGTGGACTCCCGGCTCCA	NM_001004699	NP_001004699	8841547	Q8NG97	OR2Z1_HUMAN	0			1	157	+	C	C			Missense_Mutation	53			Cytoplasmic (Potential).			
OR3A1	4994	broad.mit.edu	GRCh37	17	3195464	3195464	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs143631940		TCGA-06-0129-01	TCGA-06-0129-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323404.1:c.413G>A	p.Arg138His	p.R138H	ENST00000323404	NM_002550.2	138	cGc/cAc	0	T:0.0002	T:0	1	T:0		T	R/H	uc002fvh.1	protein_coding	YES	CCDS11023.1			413/948									kidney(2)|central_nervous_system(1)	3	c.(412-414)CGC>CAC			Gene3D:1.20.1070.10,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF90,Superfamily_domains:SSF81321	olfactory receptor, family 3, subfamily A,		T:0.001	T:0.0001	ENSP00000313803	T:0	1-Jan	4.94E-05	9.61E-05		0.000116		5.99E-05			rs143631940,COSM1382567	1-Jan	.		ENST00000323404	Transcript		T:0.0002	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000180090	g.chr17:3195464C>T	8282			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=OR3A1_HUMAN&rb=1&re=141&var=R138H	getma.org/pdb.php?prot=OR3A1_HUMAN&from=1&to=141&var=R138H	getma.org/?cm=var&var=hg19,17,3195464,C,T&fts=all	R138H	--	--	1																																			0,1	1		benign(0.012)	p.R138H	NM_002550	NP_002541	T:0	tolerated(0.56)	0,1	OR3A1_HUMAN	OR3A1	HGNC	P47881	OR3A1_HUMAN					1	413	-			UPI00001410CA	138			Cytoplasmic (Potential).		SNV	OR3A1,missense_variant,p.Arg138His,ENST00000323404,NM_002550.2;RP11-64J4.2,intron_variant,,ENST00000573491,;RP11-64J4.2,intron_variant,,ENST00000573901,;RP11-64J4.2,intron_variant,,ENST00000576166,;	uc002fvh.1	c.413G>A	413/948	1	1			c.413G>A						17	SNP	c.(412-414)CGC>CAC	1	1			kidney(2)|central_nervous_system(1)	3	Broad	olfactory receptor, family 3, subfamily A,			3195464		0.582	ENSG00000180090	10847	g.chr17:3195464C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	GBM(20;287 516 18743 28660 36594)			GBM(20;287 516 18743 28660 36594)			-42.352737	KEEP	1	3	-1	111	102	1	3	-1	6.977666	111	102	0.020833	1	0	0	0	0	1	0	0	0	--	--		0	T				15	GBM-06-0129-TP	p.R138H	C	CTGACTCATGCGGGTGCTGTA	NM_002550	NP_002541	3195464	P47881	OR3A1_HUMAN	0			1	413	-	T	T			Missense_Mutation	138			Cytoplasmic (Potential).			
OR3A2	4995	broad.mit.edu	GRCh37	17	3181738	3181738	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0648-01	TCGA-06-0648-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408891.2:c.492C>T	p.Asn164=	p.N164=	ENST00000408891	NM_002551.3	164	aaC/aaT	0		A:0	1	A:0		A	N	uc002fvg.2	protein_coding	YES	CCDS42233.1			492/966									ovary(1)	1	c.(490-492)AAC>AAT			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF7,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 3, subfamily A,		A:0		ENSP00000386180	A:0	1-Jan	0.000181					3.00E-05	0.0011	0.00115	rs554078410,COSM1382557	1-Jan	common_variant		ENST00000408891	Transcript		A:0.0006	sensory perception of smell	integral to plasma membrane	olfactory receptor activity	ENSG00000221882	g.chr17:3181738G>A	8283			LOW								--	--	1																																			0,1	1			p.N164N	NM_002551	NP_002542	A:0.0031		0,1	OR3A2_HUMAN	OR3A2	HGNC	P47893	OR3A2_HUMAN					1	531	-			UPI0000050B3C	164			Helical; Name=4; (Potential).		SNV	OR3A2,synonymous_variant,p.=,ENST00000408891,NM_002551.3;RP11-64J4.2,downstream_gene_variant,,ENST00000573491,;RP11-64J4.2,downstream_gene_variant,,ENST00000576166,;	uc002fvg.2	c.492C>T	531/1076	1	1			c.492C>T						17	SNP	c.(490-492)AAC>AAT	55	55			ovary(1)	1	Broad	olfactory receptor, family 3, subfamily A,			3181738		0.582	ENSG00000221882	10848	g.chr17:3181738G>A	sensory perception of smell	integral to plasma membrane	olfactory receptor activity	GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)			GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)			229.189511	KEEP	56	34	-1	68	82	56	34	-1	229.898761	68	82	0.431818	1	0	0	0	0	0	0	1	0	--	--		0	A				61	GBM-06-0648-TP	p.N164N	G	GGGTCAGTGCGTTGGTGAAGG	NM_002551	NP_002542	3181738	P47893	OR3A2_HUMAN	0			1	531	-	A	A			Silent	164			Helical; Name=4; (Potential).			
OR3A2	0	broad.mit.edu	GRCh37	17	3181702	3181702	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-6391-01	TCGA-06-6391-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408891.2:c.528C>G	p.Asn176Lys	p.N176K	ENST00000408891	NM_002551.3	176	aaC/aaG	0			1			C	N/K	uc002fvg.2	protein_coding	YES	CCDS42233.1			528/966									ovary(1)	1	c.(526-528)AAC>AAG			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF7,Superfamily_domains:SSF81321	olfactory receptor, family 3, subfamily A,				ENSP00000386180		1-Jan										1-Jan	.		ENST00000408891	Transcript			sensory perception of smell	integral to plasma membrane	olfactory receptor activity	ENSG00000221882	g.chr17:3181702G>C	8283			MODERATE		0.17	neutral	getma.org/?cm=msa&ty=f&p=OR3A2_HUMAN&rb=148&re=292&var=N176K	NA	getma.org/?cm=var&var=hg19,17,3181702,G,C&fts=all	N176K	--	--	1																																				1		benign(0.005)	p.N176K	NM_002551	NP_002542		tolerated(0.71)		OR3A2_HUMAN	OR3A2	HGNC	P47893	OR3A2_HUMAN					1	567	-			UPI0000050B3C	176			Extracellular (Potential).		SNV	OR3A2,missense_variant,p.Asn176Lys,ENST00000408891,NM_002551.3;RP11-64J4.2,downstream_gene_variant,,ENST00000573491,;RP11-64J4.2,downstream_gene_variant,,ENST00000576166,;	uc002fvg.2	c.528C>G	567/1076	4	4			c.528C>G						17	SNP	c.(526-528)AAC>AAG	45	45			ovary(1)	1	Broad	olfactory receptor, family 3, subfamily A,			3181702		0.567	ENSG00000221882	10848	g.chr17:3181702G>C	sensory perception of smell	integral to plasma membrane	olfactory receptor activity	GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)			GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)			72.753995	KEEP	17	18	-1	80	87	17	18	-1	83.441867	80	87	0.204545	1	0	0	0	0	1	0	0	0	--	--		0	C				107	GBM-06-6391-TP	p.N176K	G	GGCCACAGAAGTTGAGCGTGG	NM_002551	NP_002542	3181702	P47893	OR3A2_HUMAN	0			1	567	-	C	C			Missense_Mutation	176			Extracellular (Potential).			
OR3A2	0	broad.mit.edu	GRCh37	17	3181517	3181517	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01	TCGA-06-6695-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408891.2:c.713G>A	p.Arg238His	p.R238H	ENST00000408891	NM_002551.3	238	cGt/cAt	0	T:0.0005	T:0	1	T:0		T	R/H	uc002fvg.2	protein_coding	YES	CCDS42233.1			713/966									ovary(1)	1	c.(712-714)CGT>CAT			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF7,Superfamily_domains:SSF81321	olfactory receptor, family 3, subfamily A,		T:0	T:0.0015	ENSP00000386180	T:0.001	1-Jan	0.00147	0.000494	0.00104	0.000116	0.00287	0.00195		0.000666	rs201033738,COSM3748011	1-Jan	common_variant		ENST00000408891	Transcript		T:0.0004	sensory perception of smell	integral to plasma membrane	olfactory receptor activity	ENSG00000221882	g.chr17:3181517C>T	8283			MODERATE		0.705	neutral	getma.org/?cm=msa&ty=f&p=OR3A2_HUMAN&rb=148&re=292&var=R238H	NA	getma.org/?cm=var&var=hg19,17,3181517,C,T&fts=all	R238H	--	--	1																																			0,1	1		benign(0.013)	p.R238H	NM_002551	NP_002542	T:0.001	tolerated(0.25)	0,1	OR3A2_HUMAN	OR3A2	HGNC	P47893	OR3A2_HUMAN					1	752	-			UPI0000050B3C	238			Cytoplasmic (Potential).		SNV	OR3A2,missense_variant,p.Arg238His,ENST00000408891,NM_002551.3;RP11-64J4.2,downstream_gene_variant,,ENST00000573491,;RP11-64J4.2,downstream_gene_variant,,ENST00000576166,;	uc002fvg.2	c.713G>A	752/1076	2	2			c.713G>A						17	SNP	c.(712-714)CGT>CAT	21	21			ovary(1)	1	Broad	olfactory receptor, family 3, subfamily A,			3181517		0.527	ENSG00000221882	10848	g.chr17:3181517C>T	sensory perception of smell	integral to plasma membrane	olfactory receptor activity	GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)			GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)			67.560842	KEEP	17	10	-1	19	19	17	10	-1	67.802067	19	19	0.431034	1	0	0	0	0	1	0	0	0	--	--		0	T				110	GBM-06-6695-TP	p.R238H	C	CTCCACTGAACGGATTCGTAG	NM_002551	NP_002542	3181517	P47893	OR3A2_HUMAN	0			1	752	-	T	T			Missense_Mutation	238			Cytoplasmic (Potential).			
OR4A15	0	broad.mit.edu	GRCh37	11	55135749	55135749	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-27-1838-01	TCGA-27-1838-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314706.3:c.390T>C	p.Phe130=	p.F130=	ENST00000314706	NM_001005275.1	130	ttT/ttC	0			1			C	F	uc010rif.1	protein_coding	YES	CCDS31500.1			390/1035									ovary(1)|skin(1)	2	c.(388-390)TTT>TTC			Gene3D:1.20.1070.10,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF63,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 4, subfamily A,				ENSP00000325065		1-Jan									COSM3397772	1-Jan	.		ENST00000314706	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000181958	g.chr11:55135749T>C	15152			LOW								--	--	1																																			1	1			p.F130F	NM_001005275	NP_001005275			1	O4A15_HUMAN	OR4A15	HGNC	Q8NGL6	O4A15_HUMAN					1	390	+			UPI000004618F	130			Helical; Name=3; (Potential).		SNV	OR4A15,synonymous_variant,p.=,ENST00000314706,NM_001005275.1;	uc010rif.1	c.390T>C	390/1035	3	3			c.390T>C						11	SNP	c.(388-390)TTT>TTC	12	12			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 4, subfamily A,			55135749		0.403	ENSG00000181958	10850	g.chr11:55135749T>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							41.682892	KEEP	32	25	-1	368	299	32	25	-1	154.387553	368	299	0.084112	1	0	0	0	0	0	0	1	0	--	--		0	C				197	GBM-27-1838-TP	p.F130F	T	CTCAACTTTTTATGGATCATT	NM_001005275	NP_001005275	55135749	Q8NGL6	O4A15_HUMAN	0			1	390	+	C	C			Silent	130			Helical; Name=3; (Potential).			
OR4A15	0	broad.mit.edu	GRCh37	11	55135883	55135883	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01	TCGA-32-4719-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314706.3:c.524C>T	p.Ala175Val	p.A175V	ENST00000314706	NM_001005275.1	175	gCg/gTg	0	T:0	G:0	1	G:0		T	A/V	uc010rif.1	protein_coding	YES	CCDS31500.1			524/1035									ovary(1)|skin(1)	2	c.(523-525)GCG>GTG			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF63,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 4, subfamily A,		G:0	T:0.0001	ENSP00000325065	G:0	1-Jan	8.24E-06					1.50E-05			rs374555766,COSM2157400	1-Jan	.		ENST00000314706	Transcript		G:0.0002	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000181958	g.chr11:55135883C>T	15152			MODERATE		-0.125	neutral	getma.org/?cm=msa&ty=f&p=O4A15_HUMAN&rb=167&re=308&var=A175V	NA	getma.org/?cm=var&var=hg19,11,55135883,C,T&fts=all	A175V	--	--	1																																			0,1	1		benign(0.003)	p.A175V	NM_001005275	NP_001005275	G:0.001	tolerated_low_confidence(1)	0,1	O4A15_HUMAN	OR4A15	HGNC	Q8NGL6	O4A15_HUMAN					1	524	+			UPI000004618F	175			Helical; Name=4; (Potential).		SNV	OR4A15,missense_variant,p.Ala175Val,ENST00000314706,NM_001005275.1;	uc010rif.1	c.524C>T	524/1035	1	1			c.524C>T						11	SNP	c.(523-525)GCG>GTG	1	1			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 4, subfamily A,			55135883		0.443	ENSG00000181958	10850	g.chr11:55135883C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							593.185223	KEEP	101	144	-1	128	206	101	144	-1	595.216857	128	206	0.428256	1	0	0	0	0	1	0	0	0	--	--		0	T				248	GBM-32-4719-TP	p.A175V	C	ATGCTGTTGGCGGCCTGGATT	NM_001005275	NP_001005275	55135883	Q8NGL6	O4A15_HUMAN	0			1	524	+	T	T			Missense_Mutation	175			Helical; Name=4; (Potential).			
OR4A16	0	broad.mit.edu	GRCh37	11	55111268	55111268	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-26-5134-01	TCGA-26-5134-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314721.2:c.592G>T	p.Val198Phe	p.V198F	ENST00000314721	NM_001005274.1	198	Gtt/Ttt	0		T:0	1	T:0		T	V/F	uc010rie.1	protein_coding	YES	CCDS31499.1			592/987									large_intestine(2)|pancreas(1)	3	c.(592-594)GTT>TTT			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF153,Superfamily_domains:SSF81321	olfactory receptor, family 4, subfamily A,		T:0		ENSP00000325128	T:0	1-Jan	0.000165							0.00121	rs570625324,COSM2157031	1-Jan	common_variant		ENST00000314721	Transcript		T:0.0004	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000181961	g.chr11:55111268G>T	15153			MODERATE		-0.21	neutral	getma.org/?cm=msa&ty=f&p=O4A16_HUMAN&rb=137&re=278&var=V198F	NA	getma.org/?cm=var&var=hg19,11,55111268,G,T&fts=all	V198F	--	--	1																																			0,1	1		benign(0.248)	p.V198F	NM_001005274	NP_001005274	T:0.002	deleterious_low_confidence(0.01)	0,1	O4A16_HUMAN	OR4A16	HGNC	Q8NH70	O4A16_HUMAN					1	592	+			UPI0000061EB2	198			Helical; Name=5; (Potential).		SNV	OR4A16,missense_variant,p.Val198Phe,ENST00000314721,NM_001005274.1;	uc010rie.1	c.592G>T	642/1081	1	1			c.592G>T						11	SNP	c.(592-594)GTT>TTT	1	1			large_intestine(2)|pancreas(1)	3	Broad	olfactory receptor, family 4, subfamily A,			55111268		0.428	ENSG00000181961	10851	g.chr11:55111268G>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							498.149172	KEEP	95	82	0.536723164	131	95	95	82	0.536723164	499.723824	131	95	0.429363	1	0	0	0	0	1	0	0	0	--	--		0	T				183	GBM-26-5134-TP	p.V198F	G	ACTCACTGTGGTTGCCAATGG	NM_001005274	NP_001005274	55111268	Q8NH70	O4A16_HUMAN	0			1	592	+	T	T			Missense_Mutation	198			Helical; Name=5; (Potential).			
OR4A47	403253	broad.mit.edu	GRCh37	11	48510526	48510526	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0744-01	TCGA-06-0744-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000446524.1:c.182T>C	p.Leu61Pro	p.L61P	ENST00000446524	NM_001005512.2	61	cTt/cCt	0			1			C	L/P	uc010rhx.1	protein_coding	YES	CCDS31490.1			182/930									ovary(1)|skin(1)	2	c.(181-183)CTT>CCT			Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26451:SF87,hmmpanther:PTHR26451,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	olfactory receptor, family 4, subfamily A,				ENSP00000412752		1-Jan									COSM2151641	1-Jan	.		ENST00000446524	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000237388	g.chr11:48510526T>C	31266			MODERATE		4.435	high	getma.org/?cm=msa&ty=f&p=OR4A4_HUMAN&rb=1&re=136&var=L61P	getma.org/pdb.php?prot=OR4A4_HUMAN&from=1&to=136&var=L61P	getma.org/?cm=var&var=hg19,11,48510526,T,C&fts=all	L61P	--	--	1																																			1	1		probably_damaging(0.98)	p.L61P	NM_001005512	NP_001005512		deleterious_low_confidence(0)	1	O4A47_HUMAN	OR4A47	HGNC	Q6IF82	O4A47_HUMAN					1	182	+			UPI00001971E5	61			Helical; Name=2; (Potential).		SNV	OR4A47,missense_variant,p.Leu61Pro,ENST00000446524,NM_001005512.2;OR4R1P,upstream_gene_variant,,ENST00000529879,;OR4A48P,upstream_gene_variant,,ENST00000531359,;	uc010rhx.1	c.182T>C	258/1064	3	3			c.182T>C						11	SNP	c.(181-183)CTT>CCT	62	62			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 4, subfamily A,			48510526		0.408	ENSG00000237388	10852	g.chr11:48510526T>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							172.205137	KEEP	23	26	-1	45	21	23	26	-1	172.58918	45	21	0.436364	1	0	0	0	0	1	0	0	0	--	--		0	C				66	GBM-06-0744-TP	p.L61P	T	TACTTCTTTCTTGCTGGCTTA	NM_001005512	NP_001005512	48510526	Q6IF82	O4A47_HUMAN	0			1	182	+	C	C			Missense_Mutation	61			Helical; Name=2; (Potential).			
OR4A47	0	broad.mit.edu	GRCh37	11	48511019	48511019	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01	TCGA-14-3476-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000446524.1:c.675C>A	p.Asn225Lys	p.N225K	ENST00000446524	NM_001005512.2	225	aaC/aaA	0			1			A	N/K	uc010rhx.1	protein_coding	YES	CCDS31490.1			675/930									ovary(1)|skin(1)	2	c.(673-675)AAC>AAA			Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26451:SF87,hmmpanther:PTHR26451,PROSITE_profiles:PS50262	olfactory receptor, family 4, subfamily A,				ENSP00000412752		1-Jan	3.29E-05			0.000116		1.50E-05		0.000121	rs774349068,COSM3747880	1-Jan	.		ENST00000446524	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000237388	g.chr11:48511019C>A	31266			MODERATE		0	NA	NA	NA	getma.org/?cm=var&var=hg19,11,48511019,C,A&fts=all	K225K	--	--	1																																			0,1	1		benign(0.151)	p.N225K	NM_001005512	NP_001005512		tolerated_low_confidence(0.08)	0,1	O4A47_HUMAN	OR4A47	HGNC	Q6IF82	O4A47_HUMAN					1	675	+			UPI00001971E5	225			Cytoplasmic (Potential).		SNV	OR4A47,missense_variant,p.Asn225Lys,ENST00000446524,NM_001005512.2;OR4R1P,upstream_gene_variant,,ENST00000529879,;OR4A48P,upstream_gene_variant,,ENST00000531359,;	uc010rhx.1	c.675C>A	751/1064	2	2			c.675C>A						11	SNP	c.(673-675)AAC>AAA	26	26			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 4, subfamily A,			48511019		0.438	ENSG00000237388	10852	g.chr11:48511019C>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							320.874142	KEEP	48	61	0.559633028	116	103	48	61	0.559633028	327.70377	116	103	0.343849	1	0	0	0	0	1	0	0	0	--	--		0	A				151	GBM-14-3476-TP	p.N225K	C	CTTTAAAGAACCTTAGTCAGA	NM_001005512	NP_001005512	48511019	Q6IF82	O4A47_HUMAN	0			1	675	+	A	A			Missense_Mutation	225			Cytoplasmic (Potential).			
OR4A47	0	broad.mit.edu	GRCh37	11	48510660	48510660	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01	TCGA-28-2509-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000446524.1:c.316G>A	p.Gly106Ser	p.G106S	ENST00000446524	NM_001005512.2	106	Ggt/Agt	0			1			A	G/S	uc010rhx.1	protein_coding	YES	CCDS31490.1			316/930									ovary(1)|skin(1)	2	c.(316-318)GGT>AGT			Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26451:SF87,hmmpanther:PTHR26451,PROSITE_profiles:PS50262	olfactory receptor, family 4, subfamily A,				ENSP00000412752		1-Jan									COSM3397740	1-Jan	.		ENST00000446524	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000237388	g.chr11:48510660G>A	31266			MODERATE		2.08	medium	getma.org/?cm=msa&ty=f&p=OR4A4_HUMAN&rb=1&re=136&var=G106S	getma.org/pdb.php?prot=OR4A4_HUMAN&from=1&to=136&var=G106S	getma.org/?cm=var&var=hg19,11,48510660,G,A&fts=all	G106S	--	--	1																																			1	1		benign(0.174)	p.G106S	NM_001005512	NP_001005512		deleterious_low_confidence(0.03)	1	O4A47_HUMAN	OR4A47	HGNC	Q6IF82	O4A47_HUMAN					1	316	+			UPI00001971E5	106			Helical; Name=3; (Potential).		SNV	OR4A47,missense_variant,p.Gly106Ser,ENST00000446524,NM_001005512.2;OR4R1P,upstream_gene_variant,,ENST00000529879,;OR4A48P,upstream_gene_variant,,ENST00000531359,;	uc010rhx.1	c.316G>A	392/1064	1	1			c.316G>A						11	SNP	c.(316-318)GGT>AGT	56	56			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 4, subfamily A,			48510660		0.453	ENSG00000237388	10852	g.chr11:48510660G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							219.562347	KEEP	48	34	-1	77	63	48	34	-1	222.78166	77	63	0.361257	1	0	0	0	0	1	0	0	0	--	--		0	A				211	GBM-28-2509-TP	p.G106S	G	GCACATTTTCGGTGGGTCAGA	NM_001005512	NP_001005512	48510660	Q6IF82	O4A47_HUMAN	0			1	316	+	A	A			Missense_Mutation	106			Helical; Name=3; (Potential).			
OR4A5	0	broad.mit.edu	GRCh37	11	51412194	51412194	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01	TCGA-14-3476-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319760.6:c.202G>T	p.Asp68Tyr	p.D68Y	ENST00000319760	NM_001005272.3	68	Gat/Tat	0		A:0	1	A:0		A	D/Y	uc001nhi.1	protein_coding	YES	CCDS31497.1			202/948									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(202-204)GAT>TAT			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF299,Superfamily_domains:SSF81321	olfactory receptor, family 4, subfamily A,		A:0		ENSP00000367664	A:0	1-Jan	0.000478							0.00351	rs541242060,COSM3397760	1-Jan	common_variant		ENST00000319760	Transcript		A:0.0004	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000221840	g.chr11:51412194C>A	15162			MODERATE		4.28	high	getma.org/?cm=msa&ty=f&p=OR4A5_HUMAN&rb=1&re=136&var=D68Y	getma.org/pdb.php?prot=OR4A5_HUMAN&from=1&to=136&var=D68Y	getma.org/?cm=var&var=hg19,11,51412194,C,A&fts=all	D68Y	--	--	1																																			0,1	1		probably_damaging(0.997)	p.D68Y	NM_001005272	NP_001005272	A:0.002	deleterious_low_confidence(0)	0,1	OR4A5_HUMAN	OR4A5	HGNC	Q8NH83	OR4A5_HUMAN					1	202	-		all_lung(304;0.236)	UPI0000041D58	68			Helical; Name=2; (Potential).		SNV	OR4A5,missense_variant,p.Asp68Tyr,ENST00000319760,NM_001005272.3;	uc001nhi.1	c.202G>T	255/1071	1	1			c.202G>T						11	SNP	c.(202-204)GAT>TAT	55	55			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	olfactory receptor, family 4, subfamily A,			51412194		0.438	ENSG00000221840	10853	g.chr11:51412194C>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							101.644531	KEEP	19	20	0.512820513	31	34	19	20	0.512820513	102.842837	31	34	0.381443	1	0	0	0	0	1	0	0	0	--	--		0	A				151	GBM-14-3476-TP	p.D68Y	C	TATGCAGCATCTATAAATGAC	NM_001005272	NP_001005272	51412194	Q8NH83	OR4A5_HUMAN	0			1	202	-	A	A		all_lung(304;0.236)	Missense_Mutation	68			Helical; Name=2; (Potential).			
OR4B1	0	broad.mit.edu	GRCh37	11	48238965	48238965	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01	TCGA-32-1970-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309562.2:c.604G>A	p.Gly202Arg	p.G202R	ENST00000309562	NM_001005470.1	202	Gga/Aga	0			1			A	G/R	uc010rhs.1	protein_coding	YES	CCDS31485.1			604/930									skin(2)|ovary(1)|pancreas(1)	4	c.(604-606)GGA>AGA			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF23,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	olfactory receptor, family 4, subfamily B,				ENSP00000311605		1-Jan									COSM3397734	1-Jan	.		ENST00000309562	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000175619	g.chr11:48238965G>A	8290			MODERATE		3.69	high	getma.org/?cm=msa&ty=f&p=OR4B1_HUMAN&rb=137&re=278&var=G202R	NA	getma.org/?cm=var&var=hg19,11,48238965,G,A&fts=all	G202R	--	--	1																																			1	1		probably_damaging(1)	p.G202R	NM_001005470	NP_001005470		deleterious(0.01)	1	OR4B1_HUMAN	OR4B1	HGNC	Q8NGF8	OR4B1_HUMAN					1	604	+			UPI0000041BD9	202			Helical; Name=5; (Potential).		SNV	OR4B1,missense_variant,p.Gly202Arg,ENST00000309562,NM_001005470.1;	uc010rhs.1	c.604G>A	622/971	1	1			c.604G>A						11	SNP	c.(604-606)GGA>AGA	53	53			skin(2)|ovary(1)|pancreas(1)	4	Broad	olfactory receptor, family 4, subfamily B,			48238965		0.473	ENSG00000175619	10854	g.chr11:48238965G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							227.392807	KEEP	32	45	-1	53	44	32	45	-1	228.037375	53	44	0.432927	1	0	0	0	0	1	0	0	0	--	--		0	A				228	GBM-32-1970-TP	p.G202R	G	GGCCAACAGTGGATTATTCTC	NM_001005470	NP_001005470	48238965	Q8NGF8	OR4B1_HUMAN	0			1	604	+	A	A			Missense_Mutation	202			Helical; Name=5; (Potential).			
OR4C11	0	broad.mit.edu	GRCh37	11	55371464	55371464	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs146220981	byFrequency	TCGA-41-3915-01	TCGA-41-3915-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302231.4:c.386G>A	p.Arg129His	p.R129H	ENST00000302231	NM_001004700.2	129	cGt/cAt	0	T:0.0005		1			T	R/H	uc010rii.1	protein_coding	YES	CCDS31503.1			386/933									ovary(1)	1	c.(385-387)CGT>CAT			Gene3D:1.20.1070.10,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF33,Superfamily_domains:SSF81321	olfactory receptor, family 4, subfamily C,			T:0	ENSP00000306651		1-Jan	5.30E-05	0.000196	0.000108					0.000202	rs146220981,COSM3397782	1-Jan	.		ENST00000302231	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000172188	g.chr11:55371464C>T	15167			MODERATE		-1.29	neutral	getma.org/?cm=msa&ty=f&p=OR4CB_HUMAN&rb=1&re=136&var=R129H	getma.org/pdb.php?prot=OR4CB_HUMAN&from=1&to=136&var=R129H	getma.org/?cm=var&var=hg19,11,55371464,C,T&fts=all	R129H	--	--	1																																			0,1	1		benign(0.002)	p.R129H	NM_001004700	NP_001004700		tolerated(1)	0,1	OR4CB_HUMAN	OR4C11	HGNC	Q6IEV9	OR4CB_HUMAN					1	386	-			UPI000013E7AD	129			Cytoplasmic (Potential).		SNV	OR4C11,missense_variant,p.Arg129His,ENST00000302231,NM_001004700.2;	uc010rii.1	c.386G>A	411/1045	2	2			c.386G>A						11	SNP	c.(385-387)CGT>CAT	33	33			ovary(1)	1	Broad	olfactory receptor, family 4, subfamily C,			55371464		0.458	ENSG00000172188	10855	g.chr11:55371464C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							119.852269	KEEP	23	28	-1	47	55	23	28	-1	123.732864	47	55	0.323944	1	0	0	0	0	1	0	0	0	--	--		0	T				256	GBM-41-3915-TP	p.R129H	C	GGTTGGGTAACGCAAGGGCTT	NM_001004700	NP_001004700	55371464	Q6IEV9	OR4CB_HUMAN	0			1	386	-	T	T			Missense_Mutation	129			Cytoplasmic (Potential).			
OR4C11	219429		GRCh37	11	55371296	55371296	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000302231.4:c.554T>A	p.Leu185His	p.L185H	ENST00000302231	NM_001004700.2	185	cTt/cAt	0																																																																																																																																																																																																																																												
OR4C11	219429		GRCh37	11	55371120	55371120	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000302231.4:c.730G>C	p.Val244Leu	p.V244L	ENST00000302231	NM_001004700.2	244	Gta/Cta	0																																																																																																																																																																																																																																												
OR4C12	283093	broad.mit.edu	GRCh37	11	50004010	50004010	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-02-2486-01	TCGA-02-2486-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335238.4:c.28T>C	p.Phe10Leu	p.F10L	ENST00000335238	NM_001005270.2	10	Ttc/Ctc	0			1			G	F/L	uc010ria.1	protein_coding	YES	CCDS31496.1			28/930									ovary(2)|skin(1)	3	c.(28-30)TTC>CTC			hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF9,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 4, subfamily C,				ENSP00000334418		1-Jan									COSM3397754	1-Jan	.		ENST00000335238	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000221954	g.chr11:50004010A>G	15168			MODERATE		3.28	medium	getma.org/?cm=msa&ty=f&p=OR4CC_HUMAN&rb=1&re=136&var=F10L	NA	getma.org/?cm=var&var=hg19,11,50004010,A,G&fts=all	F10L	--	--	1																																			1	1		probably_damaging(0.986)	p.F10L	NM_001005270	NP_001005270		deleterious_low_confidence(0)	1	OR4CC_HUMAN	OR4C12	HGNC	Q96R67	OR4CC_HUMAN					1	28	-			UPI0000041E30	10			Extracellular (Potential).		SNV	OR4C12,missense_variant,p.Phe10Leu,ENST00000335238,NM_001005270.2;	uc010ria.1	c.28T>C	62/1063	4	4			c.28T>C						11	SNP	c.(28-30)TTC>CTC	30	30			ovary(2)|skin(1)	3	Broad	olfactory receptor, family 4, subfamily C,			50004010		0.338	ENSG00000221954	10856	g.chr11:50004010A>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							85.199898	KEEP	13	22	-1	48	58	13	22	-1	91.785575	48	58	0.247788	1	0	0	0	0	1	0	0	0	--	--		0	G				8	GBM-02-2486-TP	p.F10L	A	ATTAAAATGAATTCAGTCACA	NM_001005270	NP_001005270	50004010	Q96R67	OR4CC_HUMAN	0			1	28	-	G	G			Missense_Mutation	10			Extracellular (Potential).			
OR4C12	0	broad.mit.edu	GRCh37	11	50003720	50003720	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-28-5204-01	TCGA-28-5204-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335238.4:c.318T>C	p.Gly106=	p.G106=	ENST00000335238	NM_001005270.2	106	ggT/ggC	0			1			G	G	uc010ria.1	protein_coding	YES	CCDS31496.1			318/930									ovary(2)|skin(1)	3	c.(316-318)GGT>GGC			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF9,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 4, subfamily C,				ENSP00000334418		1-Jan									COSM3397753	1-Jan	.		ENST00000335238	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000221954	g.chr11:50003720A>G	15168			LOW								--	--	1																																			1	1			p.G106G	NM_001005270	NP_001005270			1	OR4CC_HUMAN	OR4C12	HGNC	Q96R67	OR4CC_HUMAN					1	318	-			UPI0000041E30	106			Helical; Name=3; (Potential).		SNV	OR4C12,synonymous_variant,p.=,ENST00000335238,NM_001005270.2;	uc010ria.1	c.318T>C	352/1063	3	3			c.318T>C						11	SNP	c.(316-318)GGT>GGC	61	61			ovary(2)|skin(1)	3	Broad	olfactory receptor, family 4, subfamily C,			50003720		0.453	ENSG00000221954	10856	g.chr11:50003720A>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							413.261846	KEEP	60	100	-1	126	134	60	100	-1	418.805672	126	134	0.366947	1	0	0	0	0	0	0	1	0	--	--		0	G				215	GBM-28-5204-TP	p.G106G	A	TCTCAGTAGCACCAAAAATGT	NM_001005270	NP_001005270	50003720	Q96R67	OR4CC_HUMAN	0			1	318	-	G	G			Silent	106			Helical; Name=3; (Potential).			
OR4C12	0	broad.mit.edu	GRCh37	11	50003266	50003266	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs148765699	byFrequency;by1000genomes	TCGA-28-5208-01	TCGA-28-5208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335238.4:c.772C>T	p.Arg258Cys	p.R258C	ENST00000335238	NM_001005270.2	258	Cgc/Tgc	0	A:0.0066	A:0.0091	1	A:0.0014		A	R/C	uc010ria.1	protein_coding	YES	CCDS31496.1			772/930									ovary(2)|skin(1)	3	c.(772-774)CGC>TGC			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF9,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	olfactory receptor, family 4, subfamily C,		A:0	A:0.0001	ENSP00000334418	A:0.001	1-Jan	0.000692	0.00654	0.00087			6.00E-05	0.0011	6.06E-05	rs148765699,COSM3397752	1-Jan	common_variant		ENST00000335238	Transcript		A:0.0028	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000221954	g.chr11:50003266G>A	15168			MODERATE		2.665	medium	getma.org/?cm=msa&ty=f&p=OR4CC_HUMAN&rb=137&re=278&var=R258C	NA	getma.org/?cm=var&var=hg19,11,50003266,G,A&fts=all	R258C	--	--	1																																			0,1	1		probably_damaging(0.976)	p.R258C	NM_001005270	NP_001005270	A:0	deleterious_low_confidence(0.02)	0,1	OR4CC_HUMAN	OR4C12	HGNC	Q96R67	OR4CC_HUMAN					1	772	-			UPI0000041E30	258			Extracellular (Potential).		SNV	OR4C12,missense_variant,p.Arg258Cys,ENST00000335238,NM_001005270.2;	uc010ria.1	c.772C>T	806/1063	2	2			c.772C>T						11	SNP	c.(772-774)CGC>TGC	28	28			ovary(2)|skin(1)	3	Broad	olfactory receptor, family 4, subfamily C,			50003266		0.433	ENSG00000221954	10856	g.chr11:50003266G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							130.252153	KEEP	14	36	-1	34	44	14	36	-1	131.706866	34	44	0.381356	1	0	0	0	0	1	0	0	0	--	--		0	A				217	GBM-28-5208-TP	p.R258C	G	GTCACTGAGCGCAGATACACA	NM_001005270	NP_001005270	50003266	Q96R67	OR4CC_HUMAN	0			1	772	-	A	A			Missense_Mutation	258			Extracellular (Potential).			
OR4C15	81309	broad.mit.edu	GRCh37	11	55322828	55322828	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0141-01	TCGA-06-0141-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314644.2:c.1046A>T	p.Gln349Leu	p.Q349L	ENST00000314644	NM_001001920.1	349	cAg/cTg	0			1			T	Q/L	uc010rig.1	protein_coding	YES	CCDS31501.1			1046/1113									ovary(1)|skin(1)	2	c.(1045-1047)CAG>CTG			Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF14,Superfamily_domains:SSF81321	olfactory receptor, family 4, subfamily C,				ENSP00000324958		1-Jan	8.24E-06							6.08E-05	rs752368816,COSM3397777	1-Jan	.		ENST00000314644	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000181939	g.chr11:55322828A>T	15171			MODERATE		0.75	neutral	getma.org/?cm=msa&ty=f&p=OR4CF_HUMAN&rb=280&re=316&var=Q295L	NA	getma.org/?cm=var&var=hg19,11,55322828,A,T&fts=all	Q295L	--	--	1				HNSCC(20;0.049)																															0,1	1		benign(0.033)	p.Q349L	NM_001001920	NP_001001920		deleterious_low_confidence(0)	0,1	OR4CF_HUMAN	OR4C15	HGNC	Q8NGM1	OR4CF_HUMAN					1	1046	+			UPI00003B288E	295			Cytoplasmic (Potential).		SNV	OR4C15,missense_variant,p.Gln349Leu,ENST00000314644,NM_001001920.1;	uc010rig.1	c.1046A>T	1046/1113	2	2			c.1046A>T						11	SNP	c.(1045-1047)CAG>CTG	29	29			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 4, subfamily C,			55322828		0.328	ENSG00000181939	10858	g.chr11:55322828A>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-14.960361	KEEP	6	0	-1	62	60	6	0	-1	11.938595	62	60	0.048387	1	0	0	0	0	1	0	0	0	--	--	HNSCC(20;0.049)	0	T				21	GBM-06-0141-TP	p.Q349L	A	GAAGTAAAACAGGCCATGAGG	NM_001001920	NP_001001920	55322828	Q8NGM1	OR4CF_HUMAN	0			1	1046	+	T	T			Missense_Mutation	295			Cytoplasmic (Potential).			
OR4C15	0	broad.mit.edu	GRCh37	11	55322827	55322827	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-14-4157-01	TCGA-14-4157-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314644.2:c.1045C>G	p.Gln349Glu	p.Q349E	ENST00000314644	NM_001001920.1	349	Cag/Gag	0			1			G	Q/E	uc010rig.1	protein_coding	YES	CCDS31501.1			1045/1113									ovary(1)|skin(1)	2	c.(1045-1047)CAG>GAG			Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF14,Superfamily_domains:SSF81321	olfactory receptor, family 4, subfamily C,				ENSP00000324958		1-Jan									COSM3397776	1-Jan	.		ENST00000314644	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000181939	g.chr11:55322827C>G	15171			MODERATE		0.295	neutral	getma.org/?cm=msa&ty=f&p=OR4CF_HUMAN&rb=280&re=316&var=Q295E	NA	getma.org/?cm=var&var=hg19,11,55322827,C,G&fts=all	Q295E	--	--	1				HNSCC(20;0.049)																															1	1		benign(0.023)	p.Q349E	NM_001001920	NP_001001920		deleterious_low_confidence(0)	1	OR4CF_HUMAN	OR4C15	HGNC	Q8NGM1	OR4CF_HUMAN					1	1045	+			UPI00003B288E	295			Cytoplasmic (Potential).		SNV	OR4C15,missense_variant,p.Gln349Glu,ENST00000314644,NM_001001920.1;	uc010rig.1	c.1045C>G	1045/1113	3	3			c.1045C>G						11	SNP	c.(1045-1047)CAG>GAG	62	62			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 4, subfamily C,			55322827		0.328	ENSG00000181939	10858	g.chr11:55322827C>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							261.807814	KEEP	39	38	-1	61	61	39	38	-1	264.107124	61	61	0.38342	1	0	0	0	0	1	0	0	0	--	--	HNSCC(20;0.049)	0	G				152	GBM-14-4157-TP	p.Q349E	C	GGAAGTAAAACAGGCCATGAG	NM_001001920	NP_001001920	55322827	Q8NGM1	OR4CF_HUMAN	0			1	1045	+	G	G			Missense_Mutation	295			Cytoplasmic (Potential).			
OR4C15	0	broad.mit.edu	GRCh37	11	55322570	55322570	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-41-2573-01	TCGA-41-2573-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314644.2:c.788A>T	p.Asn263Ile	p.N263I	ENST00000314644	NM_001001920.1	263	aAc/aTc	0			1			T	N/I	uc010rig.1	protein_coding	YES	CCDS31501.1			788/1113									ovary(1)|skin(1)	2	c.(787-789)AAC>ATC			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF14,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 4, subfamily C,				ENSP00000324958		1-Jan									COSM3397775	1-Jan	.		ENST00000314644	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000181939	g.chr11:55322570A>T	15171			MODERATE		-0.25	neutral	getma.org/?cm=msa&ty=f&p=OR4CF_HUMAN&rb=138&re=279&var=N209I	NA	getma.org/?cm=var&var=hg19,11,55322570,A,T&fts=all	N209I	--	--	1				HNSCC(20;0.049)																															1	1		benign(0.004)	p.N263I	NM_001001920	NP_001001920		tolerated_low_confidence(0.79)	1	OR4CF_HUMAN	OR4C15	HGNC	Q8NGM1	OR4CF_HUMAN					1	788	+			UPI00003B288E	209			Helical; Name=5; (Potential).		SNV	OR4C15,missense_variant,p.Asn263Ile,ENST00000314644,NM_001001920.1;	uc010rig.1	c.788A>T	788/1113	2	2			c.788A>T						11	SNP	c.(787-789)AAC>ATC	35	35			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 4, subfamily C,			55322570		0.478	ENSG00000181939	10858	g.chr11:55322570A>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							111.109001	KEEP	30	16	-1	49	43	30	16	-1	115.336837	49	43	0.310606	1	0	0	0	0	1	0	0	0	--	--	HNSCC(20;0.049)	0	T				252	GBM-41-2573-TP	p.N263I	A	TGCATCATAAACTTCTCCTTG	NM_001001920	NP_001001920	55322570	Q8NGM1	OR4CF_HUMAN	0			1	788	+	T	T			Missense_Mutation	209			Helical; Name=5; (Potential).			
OR4C16	219428	broad.mit.edu	GRCh37	11	55339695	55339695	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314634.3:c.92G>A	p.Arg31His	p.R31H	ENST00000314634	NM_001004701.2	31	cGt/cAt	0	T:0.0007	A:0	1	A:0		A	R/H	uc010rih.1	protein_coding	YES	CCDS31502.1			92/933									ovary(1)|skin(1)	2	c.(91-93)CGT>CAT			Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF223,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 4, subfamily C,		A:0	T:0	ENSP00000324913	A:0	1-Jan	4.94E-05					1.50E-05		0.000303	rs374191202,COSM240983	1-Jan	.		ENST00000314634	Transcript		A:0.0002	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000181935	g.chr11:55339695G>A	15172			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=OR4CG_HUMAN&rb=1&re=136&var=R31H	getma.org/pdb.php?prot=OR4CG_HUMAN&from=1&to=136&var=R31H	getma.org/?cm=var&var=hg19,11,55339695,G,A&fts=all	R31H	--	--	1																																			0,1	1		benign(0.008)	p.R31H	NM_001004701	NP_001004701	A:0.001	deleterious(0.02)	0,1	OR4CG_HUMAN	OR4C16	HGNC	Q8NGL9	OR4CG_HUMAN					1	92	+		all_epithelial(135;0.0748)	UPI000013F8A8	31			Helical; Name=1; (Potential).		SNV	OR4C16,missense_variant,p.Arg31His,ENST00000314634,NM_001004701.2;	uc010rih.1	c.92G>A	92/933	1	1			c.92G>A						11	SNP	c.(91-93)CGT>CAT	50	50			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 4, subfamily C,			55339695		0.368	ENSG00000181935	10859	g.chr11:55339695G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							165.359442	KEEP	58	31	-1	76	59	58	31	-1	171.572159	76	59	0.308901	1	0	0	0	0	1	0	0	0	--	--		0	A				18	GBM-06-0137-TP	p.R31H	G	ATTTTTTTGCGTCTCTACTTG	NM_001004701	NP_001004701	55339695	Q8NGL9	OR4CG_HUMAN	0			1	92	+	A	A		all_epithelial(135;0.0748)	Missense_Mutation	31			Helical; Name=1; (Potential).			
OR4C16	0	broad.mit.edu	GRCh37	11	55340233	55340233	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314634.3:c.630C>T	p.Val210=	p.V210=	ENST00000314634	NM_001004701.2	210	gtC/gtT	0			1			T	V	uc010rih.1	protein_coding	YES	CCDS31502.1			630/933									ovary(1)|skin(1)	2	c.(628-630)GTC>GTT			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF223,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 4, subfamily C,				ENSP00000324913		1-Jan									COSM3397778	1-Jan	.		ENST00000314634	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000181935	g.chr11:55340233C>T	15172			LOW								--	--	1																																			1	1			p.V210V	NM_001004701	NP_001004701			1	OR4CG_HUMAN	OR4C16	HGNC	Q8NGL9	OR4CG_HUMAN					1	630	+		all_epithelial(135;0.0748)	UPI000013F8A8	210			Helical; Name=5; (Potential).		SNV	OR4C16,synonymous_variant,p.=,ENST00000314634,NM_001004701.2;	uc010rih.1	c.630C>T	630/933	1	1			c.630C>T						11	SNP	c.(628-630)GTC>GTT	1	1			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 4, subfamily C,			55340233		0.433	ENSG00000181935	10859	g.chr11:55340233C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							147.393281	KEEP	24	26	-1	22	31	24	26	-1	147.395592	22	31	0.494845	1	0	0	0	0	0	0	1	0	--	--		0	T				159	GBM-19-1390-TP	p.V210V	C	TGAGTTATGTCATGCTAATAT	NM_001004701	NP_001004701	55340233	Q8NGL9	OR4CG_HUMAN	0			1	630	+	T	T		all_epithelial(135;0.0748)	Silent	210			Helical; Name=5; (Potential).			
OR4C3	0	broad.mit.edu	GRCh37	11	48346804	48346804	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-14-0786-01	TCGA-14-0786-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319856.4:c.312T>C	p.Pro104=	p.P104=	ENST00000319856	NM_001004702.1	104	ccT/ccC	0			1			C	P	uc010rhv.1	protein_coding	YES	CCDS31489.1			312/990									skin(1)	1	c.(310-312)CCT>CCC			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF162,Superfamily_domains:SSF81321	olfactory receptor, family 4, subfamily C,				ENSP00000321419		1-Jan									rs200552736,COSM3747879	1-Jan	.		ENST00000319856	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000176547	g.chr11:48346804T>C	14697			LOW								--	--	1																																			0,1	1			p.P104P	NM_001004702	NP_001004702			0,1	OR4C3_HUMAN	OR4C3	HGNC	Q8NH37	OR4C3_HUMAN					1	312	+			UPI0000061EA2	77			Helical; Name=2; (Potential).		SNV	OR4C3,synonymous_variant,p.=,ENST00000319856,NM_001004702.1;	uc010rhv.1	c.312T>C	333/1036	3	3			c.312T>C						11	SNP	c.(310-312)CCT>CCC	4	4			skin(1)	1	Broad	olfactory receptor, family 4, subfamily C,			48346804		0.463	ENSG00000176547	10860	g.chr11:48346804T>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-76.503022	KEEP	22	16	-1	209	256	22	16	-1	6.995618	209	256	0.039548	1	0	0	0	0	0	0	1	0	--	--		0	C				134	GBM-14-0786-TP	p.P104P	T	CTATGGCTCCTAAACTCATTG	NM_001004702	NP_001004702	48346804	Q8NH37	OR4C3_HUMAN	0			1	312	+	C	C			Silent	77			Helical; Name=2; (Potential).			
OR4C6	219432	broad.mit.edu	GRCh37	11	55433335	55433335	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0130-01	TCGA-06-0130-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314259.3:c.693G>A	p.Arg231=	p.R231=	ENST00000314259	NM_001004704.1	231	cgG/cgA	0			1			A	R	uc001nht.3	protein_coding	YES	CCDS31506.1			693/930									skin(2)	2	c.(691-693)CGG>CGA			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF80,Superfamily_domains:SSF81321	olfactory receptor, family 4, subfamily C,				ENSP00000324769		1-Jan									COSM466929	1-Jan	.		ENST00000314259	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000181903	g.chr11:55433335G>A	14743			LOW								--	--	1																																		OR4C6_uc010rik.1_Silent_p.R231R	1	1			p.R231R	NM_001004704	NP_001004704			1	OR4C6_HUMAN	OR4C6	HGNC	Q8NH72	OR4C6_HUMAN					3	958	+			UPI0000041868	231			Cytoplasmic (Potential).		SNV	OR4C6,synonymous_variant,p.=,ENST00000314259,NM_001004704.1;	uc001nht.3	c.693G>A	722/1058	2	2			c.693G>A						11	SNP	c.(691-693)CGG>CGA	18	18			skin(2)	2	Broad	olfactory receptor, family 4, subfamily C,			55433335		0.507	ENSG00000181903	10862	g.chr11:55433335G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-48.214957	KEEP	1	6	-1	121	136	1	6	-1	10.926263	121	136	0.025316	1	0	0	0	0	0	0	1	0	--	--		0	A			OR4C6_uc010rik.1_Silent_p.R231R	16	GBM-06-0130-TP	p.R231R	G	CTAAAGGGCGGCACAAAGCCC	NM_001004704	NP_001004704	55433335	Q8NH72	OR4C6_HUMAN	0			3	958	+	A	A			Silent	231			Cytoplasmic (Potential).			
OR4C6	219432	broad.mit.edu	GRCh37	11	55433358	55433358	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0174-01	TCGA-06-0174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314259.3:c.716G>T	p.Ser239Ile	p.S239I	ENST00000314259	NM_001004704.1	239	aGc/aTc	0			1			T	S/I	uc001nht.3	protein_coding	YES	CCDS31506.1			716/930									skin(2)	2	c.(715-717)AGC>ATC			Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF80,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 4, subfamily C,				ENSP00000324769		1-Jan									COSM3397789	1-Jan	.		ENST00000314259	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000181903	g.chr11:55433358G>T	14743			MODERATE		1.915	medium	getma.org/?cm=msa&ty=f&p=OR4C6_HUMAN&rb=137&re=278&var=S239I	NA	getma.org/?cm=var&var=hg19,11,55433358,G,T&fts=all	S239I	--	--	1																																		OR4C6_uc010rik.1_Missense_Mutation_p.S239I	1	1		benign(0.013)	p.S239I	NM_001004704	NP_001004704		tolerated_low_confidence(0.47)	1	OR4C6_HUMAN	OR4C6	HGNC	Q8NH72	OR4C6_HUMAN					3	981	+			UPI0000041868	239			Helical; Name=6; (Potential).		SNV	OR4C6,missense_variant,p.Ser239Ile,ENST00000314259,NM_001004704.1;	uc001nht.3	c.716G>T	745/1058	2	2			c.716G>T						11	SNP	c.(715-717)AGC>ATC	47	47			skin(2)	2	Broad	olfactory receptor, family 4, subfamily C,			55433358		0.502	ENSG00000181903	10862	g.chr11:55433358G>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-43.39181	KEEP	4	4	0.5	149	115	4	4	0.5	11.681355	149	115	0.030702	1	0	0	0	0	1	0	0	0	--	--		0	T			OR4C6_uc010rik.1_Missense_Mutation_p.S239I	37	GBM-06-0174-TP	p.S239I	G	TCTACCTGCAGCTCCCACCTC	NM_001004704	NP_001004704	55433358	Q8NH72	OR4C6_HUMAN	0			3	981	+	T	T			Missense_Mutation	239			Helical; Name=6; (Potential).			
OR4C6	0	broad.mit.edu	GRCh37	11	55432767	55432767	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-27-1833-01	TCGA-27-1833-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314259.3:c.125T>A	p.Leu42His	p.L42H	ENST00000314259	NM_001004704.1	42	cTt/cAt	0			1			A	L/H	uc001nht.3	protein_coding	YES	CCDS31506.1			125/930									skin(2)	2	c.(124-126)CTT>CAT			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF80,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 4, subfamily C,				ENSP00000324769		1-Jan									COSM3397788	1-Jan	.		ENST00000314259	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000181903	g.chr11:55432767T>A	14743			MODERATE		3.755	high	getma.org/?cm=msa&ty=f&p=OR4C6_HUMAN&rb=1&re=136&var=L42H	getma.org/pdb.php?prot=OR4C6_HUMAN&from=1&to=136&var=L42H	getma.org/?cm=var&var=hg19,11,55432767,T,A&fts=all	L42H	--	--	1																																		OR4C6_uc010rik.1_Missense_Mutation_p.L42H	1	1		possibly_damaging(0.898)	p.L42H	NM_001004704	NP_001004704		deleterious_low_confidence(0)	1	OR4C6_HUMAN	OR4C6	HGNC	Q8NH72	OR4C6_HUMAN					3	390	+			UPI0000041868	42			Helical; Name=1; (Potential).		SNV	OR4C6,missense_variant,p.Leu42His,ENST00000314259,NM_001004704.1;	uc001nht.3	c.125T>A	154/1058	1	1			c.125T>A						11	SNP	c.(124-126)CTT>CAT	50	50			skin(2)	2	Broad	olfactory receptor, family 4, subfamily C,			55432767		0.393	ENSG00000181903	10862	g.chr11:55432767T>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							504.755655	KEEP	74	98	-1	114	95	74	98	-1	505.339268	114	95	0.456825	1	0	0	0	0	1	0	0	0	--	--		0	A			OR4C6_uc010rik.1_Missense_Mutation_p.L42H	192	GBM-27-1833-TP	p.L42H	T	GAAAATCTACTTATTGTGGTA	NM_001004704	NP_001004704	55432767	Q8NH72	OR4C6_HUMAN	0			3	390	+	A	A			Missense_Mutation	42			Helical; Name=1; (Potential).			
OR4D10	0	broad.mit.edu	GRCh37	11	59244963	59244963	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1829-01	TCGA-14-1829-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000530162.1:c.61C>T	p.Arg21Trp	p.R21W	ENST00000530162	NM_001004705.1	21	Cgg/Tgg	0			1			T	R/W	uc001nnz.1	protein_coding	YES	CCDS53636.1			61/936									ovary(2)|skin(1)	3	c.(61-63)CGG>TGG			Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF111,Superfamily_domains:SSF81321	olfactory receptor, family 4, subfamily D,				ENSP00000436424		1-Jan	4.13E-05					6.06E-05		6.98E-05	rs761012920,COSM3397921,COSM3397920	1-Jan	.		ENST00000530162	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000254466	g.chr11:59244963C>T	15173			MODERATE		0.015	neutral	getma.org/?cm=msa&ty=f&p=OR4DA_HUMAN&rb=1&re=138&var=R21W	getma.org/pdb.php?prot=OR4DA_HUMAN&from=1&to=138&var=R21W	getma.org/?cm=var&var=hg19,11,59244963,C,T&fts=all	R21W	--	--	1																																			0,1,1	1		benign(0)	p.R21W	NM_001004705	NP_001004705		tolerated(0.25)	0,1,1	OR4DA_HUMAN	OR4D10	HGNC	Q8NGI6	OR4DA_HUMAN					1	61	+			UPI0000046485	21			Extracellular (Potential).		SNV	OR4D10,missense_variant,p.Arg21Trp,ENST00000530162,NM_001004705.1;	uc001nnz.1	c.61C>T	118/1024	1	1			c.61C>T						11	SNP	c.(61-63)CGG>TGG	12	12			ovary(2)|skin(1)	3	Broad	olfactory receptor, family 4, subfamily D,			59244963		0.413	ENSG00000254466	10864	g.chr11:59244963C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							116.72239	KEEP	27	20	-1	60	64	27	20	-1	124.673709	60	64	0.268293	1	0	0	0	0	1	0	0	0	--	--		0	T				149	GBM-14-1829-TP	p.R21W	C	GACCCAGAATCGGGAAGTGAG	NM_001004705	NP_001004705	59244963	Q8NGI6	OR4DA_HUMAN	0			1	61	+	T	T			Missense_Mutation	21			Extracellular (Potential).			
OR4D11	219986	broad.mit.edu	GRCh37	11	59271634	59271634	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-06-5411-01	TCGA-06-5411-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313253.1:c.586G>T	p.Glu196Ter	p.E196*	ENST00000313253	NM_001004706.1	196	Gag/Tag	0			1			T	E/*	uc001noa.1	protein_coding	YES	CCDS31563.1			586/936									ovary(1)|skin(1)	2	c.(586-588)GAG>TAG			PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF200,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 4, subfamily D,				ENSP00000320077		1-Jan									COSM2153139	1-Jan	.		ENST00000313253	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000176200	g.chr11:59271634G>T	15174			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,11,59271634,G,T&fts=all	E196*	--	--	1																																			1	1			p.E196*	NM_001004706	NP_001004706			1	OR4DB_HUMAN	OR4D11	HGNC	Q8NGI4	OR4DB_HUMAN					1	586	+			UPI0000046486	196			Helical; Name=5; (Potential).		SNV	OR4D11,stop_gained,p.Glu196Ter,ENST00000313253,NM_001004706.1;	uc001noa.1	c.586G>T	586/936	5	2			c.586G>T						11	SNP	c.(586-588)GAG>TAG	35	35			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 4, subfamily D,			59271634		0.493	ENSG00000176200	10865	g.chr11:59271634G>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							63.948187	KEEP	14	19	0.424242424	59	67	14	19	0.424242424	74.740158	59	67	0.212766	1	0	0	0	0	0	1	0	0	--	--		0	T				94	GBM-06-5411-TP	p.E196*	G	TTTTGCTCTTGAGTTCTTGAT	NM_001004706	NP_001004706	59271634	Q8NGI4	OR4DB_HUMAN	0			1	586	+	T	T			Nonsense_Mutation	196			Helical; Name=5; (Potential).			
OR4D11	0	broad.mit.edu	GRCh37	11	59271382	59271382	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-32-2634-01	TCGA-32-2634-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313253.1:c.334A>T	p.Ile112Phe	p.I112F	ENST00000313253	NM_001004706.1	112	Att/Ttt	0			1			T	I/F	uc001noa.1	protein_coding	YES	CCDS31563.1			334/936									ovary(1)|skin(1)	2	c.(334-336)ATT>TTT			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF200,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 4, subfamily D,				ENSP00000320077		1-Jan									COSM3397924	1-Jan	.		ENST00000313253	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000176200	g.chr11:59271382A>T	15174			MODERATE		0.585	neutral	getma.org/?cm=msa&ty=f&p=OR4DB_HUMAN&rb=1&re=139&var=I112F	getma.org/pdb.php?prot=OR4DB_HUMAN&from=1&to=139&var=I112F	getma.org/?cm=var&var=hg19,11,59271382,A,T&fts=all	I112F	--	--	1																																			1	1		benign(0.439)	p.I112F	NM_001004706	NP_001004706		deleterious(0)	1	OR4DB_HUMAN	OR4D11	HGNC	Q8NGI4	OR4DB_HUMAN					1	334	+			UPI0000046486	112			Helical; Name=3; (Potential).		SNV	OR4D11,missense_variant,p.Ile112Phe,ENST00000313253,NM_001004706.1;RNU6-779P,downstream_gene_variant,,ENST00000516609,;	uc001noa.1	c.334A>T	334/936	1	1			c.334A>T						11	SNP	c.(334-336)ATT>TTT	9	9			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 4, subfamily D,			59271382		0.473	ENSG00000176200	10865	g.chr11:59271382A>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							379.184463	KEEP	62	58	-1	94	79	62	58	-1	380.836021	94	79	0.417266	1	0	0	0	0	1	0	0	0	--	--		0	T				241	GBM-32-2634-TP	p.I112F	A	TGGGGCAGACATTTTTTCTCT	NM_001004706	NP_001004706	59271382	Q8NGI4	OR4DB_HUMAN	0			1	334	+	T	T			Missense_Mutation	112			Helical; Name=3; (Potential).			
OR4D2	124538	broad.mit.edu	GRCh37	17	56247707	56247707	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0648-01	TCGA-06-0648-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000545221.1:c.691G>A	p.Glu231Lys	p.E231K	ENST00000545221	NM_001004707.3	231	Gag/Aag	0			1			A	E/K	uc010wnp.1	protein_coding	YES	CCDS32688.1			691/924									ovary(1)|breast(1)	2	c.(691-693)GAG>AAG			PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF315,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 4, subfamily D,				ENSP00000441354		1-Jan									COSM2151348	1-Jan	.		ENST00000545221	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000255713	g.chr17:56247707G>A	8294			MODERATE		2.08	medium	getma.org/?cm=msa&ty=f&p=OR4D2_HUMAN&rb=139&re=280&var=E231K	NA	getma.org/?cm=var&var=hg19,17,56247707,G,A&fts=all	E231K	--	--	1																																			1	1		benign(0.026)	p.E231K	NM_001004707	NP_001004707		tolerated(0.08)	1	OR4D2_HUMAN	OR4D2	HGNC	P58180	OR4D2_HUMAN					1	691	+			UPI0000000DB3	231			Cytoplasmic (Potential).		SNV	OR4D2,missense_variant,p.Glu231Lys,ENST00000545221,NM_001004707.3;	uc010wnp.1	c.691G>A	691/924	2	2			c.691G>A						17	SNP	c.(691-693)GAG>AAG	25	25			ovary(1)|breast(1)	2	Broad	olfactory receptor, family 4, subfamily D,			56247707		0.537	ENSG00000255713	10866	g.chr17:56247707G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							191.169282	KEEP	31	32	-1	40	36	31	32	-1	191.303108	40	36	0.465649	1	0	0	0	0	1	0	0	0	--	--		0	A				61	GBM-06-0648-TP	p.E231K	G	ACATCCAGGGGAGGCAAGAAG	NM_001004707	NP_001004707	56247707	P58180	OR4D2_HUMAN	0			1	691	+	A	A			Missense_Mutation	231			Cytoplasmic (Potential).			
OR4D2	0	broad.mit.edu	GRCh37	17	56247206	56247206	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs148589207		TCGA-32-1979-01	TCGA-32-1979-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000545221.1:c.190C>T	p.Arg64Ter	p.R64*	ENST00000545221	NM_001004707.3	64	Cga/Tga	0	T:0.0002		1			T	R/*	uc010wnp.1	protein_coding	YES	CCDS32688.1			190/924									ovary(1)|breast(1)	2	c.(190-192)CGA>TGA			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF315,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 4, subfamily D,			T:0	ENSP00000441354		1-Jan	9.88E-05	9.61E-05	0.000518			1.50E-05		0.000242	rs148589207,COSM3403043	1-Jan	common_variant		ENST00000545221	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000255713	g.chr17:56247206C>T	8294			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,17,56247206,C,T&fts=all	R64*	--	--	1																																			0,1	1			p.R64*	NM_001004707	NP_001004707			0,1	OR4D2_HUMAN	OR4D2	HGNC	P58180	OR4D2_HUMAN					1	190	+			UPI0000000DB3	64			Helical; Name=2; (Potential).		SNV	OR4D2,stop_gained,p.Arg64Ter,ENST00000545221,NM_001004707.3;	uc010wnp.1	c.190C>T	190/924	5	2			c.190C>T						17	SNP	c.(190-192)CGA>TGA	33	33			ovary(1)|breast(1)	2	Broad	olfactory receptor, family 4, subfamily D,			56247206		0.483	ENSG00000255713	10866	g.chr17:56247206C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							174.577364	KEEP	35	29	-1	44	65	35	29	-1	176.51612	44	65	0.380645	1	0	0	0	0	0	1	0	0	--	--		0	T				230	GBM-32-1979-TP	p.R64*	C	CTTTCTGCTCCGAAACCTGGC	NM_001004707	NP_001004707	56247206	P58180	OR4D2_HUMAN	0			1	190	+	T	T			Nonsense_Mutation	64			Helical; Name=2; (Potential).			
OR4D5	219875	broad.mit.edu	GRCh37	11	123810393	123810393	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0171-01	TCGA-06-0171-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307033.2:c.70C>T	p.Arg24Trp	p.R24W	ENST00000307033	NM_001001965.1	24	Cgg/Tgg	0	T:0		1			T	R/W	uc001pzk.1	protein_coding	YES	CCDS31699.1			70/957									ovary(1)	1	c.(70-72)CGG>TGG			hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF73,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 4, subfamily D,			T:0.0001	ENSP00000305970		1-Jan	0.000198	0.000194				0.000274		0.000295	rs373579235,COSM1974001	1-Jan	.		ENST00000307033	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000171014	g.chr11:123810393C>T	14852			MODERATE		1.465	low	getma.org/?cm=msa&ty=f&p=OR4D5_HUMAN&rb=1&re=138&var=R24W	getma.org/pdb.php?prot=OR4D5_HUMAN&from=1&to=138&var=R24W	getma.org/?cm=var&var=hg19,11,123810393,C,T&fts=all	R24W	--	--	1																																			0,1	1		possibly_damaging(0.609)	p.R24W	NM_001001965	NP_001001965		deleterious(0.01)	0,1	OR4D5_HUMAN	OR4D5	HGNC	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)			1	70	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	UPI000003F227	24			Extracellular (Potential).		SNV	OR4D5,missense_variant,p.Arg24Trp,ENST00000307033,NM_001001965.1;OR6T1,downstream_gene_variant,,ENST00000321252,NM_001005187.1;	uc001pzk.1	c.70C>T	144/1095	1	1			c.70C>T						11	SNP	c.(70-72)CGG>TGG	9	9			ovary(1)	1	Broad	olfactory receptor, family 4, subfamily D,			123810393		0.468	ENSG00000171014	10867	g.chr11:123810393C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-34.447085	KEEP	7	1	-1	106	107	7	1	-1	13.429541	106	107	0.034483	1	0	0	0	0	1	0	0	0	--	--		0	T				35	GBM-06-0171-TP	p.R24W	C	TTGGGAGCTTCGGTTTGTTTT	NM_001001965	NP_001001965	123810393	Q8NGN0	OR4D5_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	70	+	T	T		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	Missense_Mutation	24			Extracellular (Potential).			
OR4D5	219875	broad.mit.edu	GRCh37	11	123811134	123811134	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0745-01	TCGA-06-0745-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307033.2:c.811G>A	p.Val271Ile	p.V271I	ENST00000307033	NM_001001965.1	271	Gtc/Atc	0		A:0	1	A:0		A	V/I	uc001pzk.1	protein_coding	YES	CCDS31699.1			811/957									ovary(1)	1	c.(811-813)GTC>ATC			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF73,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 4, subfamily D,		A:0		ENSP00000305970	A:0	1-Jan	0.000264		0.000173		0.000151	6.00E-05		0.00151	rs564572858,COSM1127874	1-Jan	common_variant		ENST00000307033	Transcript		A:0.0002	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000171014	g.chr11:123811134G>A	14852			MODERATE		1.14	low	getma.org/?cm=msa&ty=f&p=OR4D5_HUMAN&rb=139&re=280&var=V271I	NA	getma.org/?cm=var&var=hg19,11,123811134,G,A&fts=all	V271I	--	--	1																																			0,1	1		benign(0.01)	p.V271I	NM_001001965	NP_001001965	A:0.001	tolerated(0.33)	0,1	OR4D5_HUMAN	OR4D5	HGNC	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)			1	811	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	UPI000003F227	271			Helical; Name=7; (Potential).		SNV	OR4D5,missense_variant,p.Val271Ile,ENST00000307033,NM_001001965.1;OR6T1,downstream_gene_variant,,ENST00000321252,NM_001005187.1;	uc001pzk.1	c.811G>A	885/1095	1	1			c.811G>A						11	SNP	c.(811-813)GTC>ATC	56	56			ovary(1)	1	Broad	olfactory receptor, family 4, subfamily D,			123811134		0.493	ENSG00000171014	10867	g.chr11:123811134G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							256.710711	KEEP	49	43	-1	70	51	49	43	-1	257.241749	70	51	0.445	1	0	0	0	0	1	0	0	0	--	--		0	A				67	GBM-06-0745-TP	p.V271I	G	GGACAAGGCCGTCTCTGTGCT	NM_001001965	NP_001001965	123811134	Q8NGN0	OR4D5_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	811	+	A	A		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	Missense_Mutation	271			Helical; Name=7; (Potential).			
OR4D5	219875	broad.mit.edu	GRCh37	11	123811000	123811000	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs142766960		TCGA-06-0749-01	TCGA-06-0749-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307033.2:c.677G>A	p.Arg226Gln	p.R226Q	ENST00000307033	NM_001001965.1	226	cGa/cAa	0			1			A	R/Q	uc001pzk.1	protein_coding	YES	CCDS31699.1			677/957									ovary(1)	1	c.(676-678)CGA>CAA			PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF73,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	olfactory receptor, family 4, subfamily D,				ENSP00000305970		1-Jan	0.000741		8.64E-05		0.000454	0.00127	0.0011		rs142766960,COSM1974029	1-Jan	common_variant		ENST00000307033	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000171014	g.chr11:123811000G>A	14852			MODERATE		1.925	medium	getma.org/?cm=msa&ty=f&p=OR4D5_HUMAN&rb=139&re=280&var=R226Q	NA	getma.org/?cm=var&var=hg19,11,123811000,G,A&fts=all	R226Q	--	--	1																																			0,1	1		benign(0.017)	p.R226Q	NM_001001965	NP_001001965		deleterious(0.03)	0,1	OR4D5_HUMAN	OR4D5	HGNC	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)			1	677	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	UPI000003F227	226			Cytoplasmic (Potential).		SNV	OR4D5,missense_variant,p.Arg226Gln,ENST00000307033,NM_001001965.1;OR6T1,downstream_gene_variant,,ENST00000321252,NM_001005187.1;	uc001pzk.1	c.677G>A	751/1095	2	2			c.677G>A						11	SNP	c.(676-678)CGA>CAA	45	45			ovary(1)	1	Broad	olfactory receptor, family 4, subfamily D,			123811000		0.507	ENSG00000171014	10867	g.chr11:123811000G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							261.233246	KEEP	67	40	-1	156	111	67	40	-1	271.662095	156	111	0.305195	1	0	0	0	0	1	0	0	0	--	--		0	A				69	GBM-06-0749-TP	p.R226Q	G	GTCATGCTCCGAAGCCACTCA	NM_001001965	NP_001001965	123811000	Q8NGN0	OR4D5_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	677	+	A	A		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	Missense_Mutation	226			Cytoplasmic (Potential).			
OR4D5	0	broad.mit.edu	GRCh37	11	123811011	123811011	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1837-01	TCGA-27-1837-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307033.2:c.688C>T	p.Arg230Trp	p.R230W	ENST00000307033	NM_001001965.1	230	Cgg/Tgg	0			1			T	R/W	uc001pzk.1	protein_coding	YES	CCDS31699.1			688/957									ovary(1)	1	c.(688-690)CGG>TGG			PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF73,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	olfactory receptor, family 4, subfamily D,				ENSP00000305970		1-Jan	1.65E-05		8.64E-05					6.06E-05	rs746149575,COSM3397505	1-Jan	.		ENST00000307033	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000171014	g.chr11:123811011C>T	14852			MODERATE		0.85	low	getma.org/?cm=msa&ty=f&p=OR4D5_HUMAN&rb=139&re=280&var=R230W	NA	getma.org/?cm=var&var=hg19,11,123811011,C,T&fts=all	R230W	--	--	1																																			0,1	1		benign(0.003)	p.R230W	NM_001001965	NP_001001965		deleterious(0.01)	0,1	OR4D5_HUMAN	OR4D5	HGNC	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)			1	688	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	UPI000003F227	230			Cytoplasmic (Potential).		SNV	OR4D5,missense_variant,p.Arg230Trp,ENST00000307033,NM_001001965.1;OR6T1,downstream_gene_variant,,ENST00000321252,NM_001005187.1;	uc001pzk.1	c.688C>T	762/1095	1	1			c.688C>T						11	SNP	c.(688-690)CGG>TGG	13	13			ovary(1)	1	Broad	olfactory receptor, family 4, subfamily D,			123811011		0.522	ENSG00000171014	10867	g.chr11:123811011C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							248.285227	KEEP	62	65	-1	123	114	62	65	-1	254.694161	123	114	0.344482	1	0	0	0	0	1	0	0	0	--	--		0	T				196	GBM-27-1837-TP	p.R230W	C	AAGCCACTCACGGGAGGGCCG	NM_001001965	NP_001001965	123811011	Q8NGN0	OR4D5_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	688	+	T	T		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	Missense_Mutation	230			Cytoplasmic (Potential).			
OR4D5	0	broad.mit.edu	GRCh37	11	123811110	123811110	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs141929562		TCGA-28-5208-01	TCGA-28-5208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307033.2:c.787C>T	p.Arg263Trp	p.R263W	ENST00000307033	NM_001001965.1	263	Cgg/Tgg	0	T:0	T:0	1	T:0		T	R/W	uc001pzk.1	protein_coding	YES	CCDS31699.1			787/957									ovary(1)	1	c.(787-789)CGG>TGG			PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF73,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	olfactory receptor, family 4, subfamily D,		T:0	T:0.0001	ENSP00000305970	T:0.001	1-Jan	0.000107		8.64E-05			0.00015		0.000121	rs141929562,COSM1604237	1-Jan	.		ENST00000307033	Transcript		T:0.0004	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000171014	g.chr11:123811110C>T	14852			MODERATE		1.545	low	getma.org/?cm=msa&ty=f&p=OR4D5_HUMAN&rb=139&re=280&var=R263W	NA	getma.org/?cm=var&var=hg19,11,123811110,C,T&fts=all	R263W	--	--	1																																			0,1	1		benign(0.008)	p.R263W	NM_001001965	NP_001001965	T:0.001	deleterious(0.01)	0,1	OR4D5_HUMAN	OR4D5	HGNC	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)			1	787	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	UPI000003F227	263			Extracellular (Potential).		SNV	OR4D5,missense_variant,p.Arg263Trp,ENST00000307033,NM_001001965.1;OR6T1,downstream_gene_variant,,ENST00000321252,NM_001005187.1;	uc001pzk.1	c.787C>T	861/1095	2	2			c.787C>T						11	SNP	c.(787-789)CGG>TGG	33	33			ovary(1)	1	Broad	olfactory receptor, family 4, subfamily D,			123811110		0.512	ENSG00000171014	10867	g.chr11:123811110C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							355.178266	KEEP	74	52	-1	75	133	74	52	-1	359.134085	75	133	0.38125	1	0	0	0	0	1	0	0	0	--	--		0	T				217	GBM-28-5208-TP	p.R263W	C	AAGGCCTTTTCGGACATTCCC	NM_001001965	NP_001001965	123811110	Q8NGN0	OR4D5_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	787	+	T	T		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	Missense_Mutation	263			Extracellular (Potential).			
OR4D5	0	broad.mit.edu	GRCh37	11	123810626	123810626	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-4097-01	TCGA-41-4097-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307033.2:c.303C>T	p.Leu101=	p.L101=	ENST00000307033	NM_001001965.1	101	ctC/ctT	0			1			T	L	uc001pzk.1	protein_coding	YES	CCDS31699.1			303/957									ovary(1)	1	c.(301-303)CTC>CTT			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF73,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	olfactory receptor, family 4, subfamily D,				ENSP00000305970		1-Jan									COSM3397504	1-Jan	.		ENST00000307033	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000171014	g.chr11:123810626C>T	14852			LOW								--	--	1																																			1	1			p.L101L	NM_001001965	NP_001001965			1	OR4D5_HUMAN	OR4D5	HGNC	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)			1	303	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	UPI000003F227	101			Helical; Name=3; (Potential).		SNV	OR4D5,synonymous_variant,p.=,ENST00000307033,NM_001001965.1;OR6T1,downstream_gene_variant,,ENST00000321252,NM_001005187.1;	uc001pzk.1	c.303C>T	377/1095	1	1			c.303C>T						11	SNP	c.(301-303)CTC>CTT	5	5			ovary(1)	1	Broad	olfactory receptor, family 4, subfamily D,			123810626		0.507	ENSG00000171014	10867	g.chr11:123810626C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-22.885133	KEEP	2	1	-1	69	59	2	1	-1	6.565135	69	59	0.025424	1	0	0	0	0	0	0	1	0	--	--		0	T				257	GBM-41-4097-TP	p.L101L	C	TGACTCAACTCTTCTTCTTCC	NM_001001965	NP_001001965	123810626	Q8NGN0	OR4D5_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	303	+	T	T		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	Silent	101			Helical; Name=3; (Potential).			
OR4D6	219983	broad.mit.edu	GRCh37	11	59224437	59224437	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-1804-01	TCGA-06-1804-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300127.2:c.4G>T	p.Asp2Tyr	p.D2Y	ENST00000300127	NM_001004708.1	2	Gac/Tac	0			1			T	D/Y	uc010rku.1	protein_coding	YES	CCDS31562.1			4/945									ovary(1)	1	c.(4-6)GAC>TAC			Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF300,Superfamily_domains:SSF81321	olfactory receptor, family 4, subfamily D,				ENSP00000300127		1-Jan									COSM2152453	1-Jan	.		ENST00000300127	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000166884	g.chr11:59224437G>T	15175			MODERATE		1.21	low	getma.org/?cm=msa&ty=f&p=OR4D6_HUMAN&rb=1&re=138&var=D2Y	NA	getma.org/?cm=var&var=hg19,11,59224437,G,T&fts=all	D2Y	--	--	1																																			1	1		benign(0.173)	p.D2Y	NM_001004708	NP_001004708		deleterious(0)	1	OR4D6_HUMAN	OR4D6	HGNC	Q8NGJ1	OR4D6_HUMAN					1	4	+			UPI0000046487	2			Extracellular (Potential).		SNV	OR4D6,missense_variant,p.Asp2Tyr,ENST00000300127,NM_001004708.1;	uc010rku.1	c.4G>T	27/1054	2	2			c.4G>T						11	SNP	c.(4-6)GAC>TAC	18	18			ovary(1)	1	Broad	olfactory receptor, family 4, subfamily D,			59224437		0.423	ENSG00000166884	10868	g.chr11:59224437G>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							136.337356	KEEP	21	32	0.396226415	40	51	21	32	0.396226415	137.973415	40	51	0.379845	1	0	0	0	0	1	0	0	0	--	--		0	T				79	GBM-06-1804-TP	p.D2Y	G	CCCCATCATGGACCAGATCAA	NM_001004708	NP_001004708	59224437	Q8NGJ1	OR4D6_HUMAN	0			1	4	+	T	T			Missense_Mutation	2			Extracellular (Potential).			
OR4D6	0	broad.mit.edu	GRCh37	11	59224665	59224665	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs144983296	by1000genomes	TCGA-14-0817-01	TCGA-14-0817-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300127.2:c.232G>A	p.Val78Ile	p.V78I	ENST00000300127	NM_001004708.1	78	Gtc/Atc	0	A:0.0002	A:0	1	A:0		A	V/I	uc010rku.1	protein_coding	YES	CCDS31562.1			232/945									ovary(1)	1	c.(232-234)GTC>ATC			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF300,Superfamily_domains:SSF81321	olfactory receptor, family 4, subfamily D,		A:0	A:0.0001	ENSP00000300127	A:0.001	1-Jan	0.000107	0.000288	8.64E-05			6.00E-05	0.0011	0.000243	rs144983296,COSM2154837	1-Jan	.		ENST00000300127	Transcript		A:0.0004	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000166884	g.chr11:59224665G>A	15175			MODERATE		1.335	low	getma.org/?cm=msa&ty=f&p=OR4D6_HUMAN&rb=1&re=138&var=V78I	getma.org/pdb.php?prot=OR4D6_HUMAN&from=1&to=138&var=V78I	getma.org/?cm=var&var=hg19,11,59224665,G,A&fts=all	V78I	--	--	1																																			0,1	1		benign(0.352)	p.V78I	NM_001004708	NP_001004708	A:0.001	deleterious(0.03)	0,1	OR4D6_HUMAN	OR4D6	HGNC	Q8NGJ1	OR4D6_HUMAN					1	232	+			UPI0000046487	78			Helical; Name=2; (Potential).		SNV	OR4D6,missense_variant,p.Val78Ile,ENST00000300127,NM_001004708.1;	uc010rku.1	c.232G>A	255/1054	1	1			c.232G>A						11	SNP	c.(232-234)GTC>ATC	63	63			ovary(1)	1	Broad	olfactory receptor, family 4, subfamily D,			59224665		0.468	ENSG00000166884	10868	g.chr11:59224665G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							253.035075	KEEP	56	31	-1	37	37	56	31	-1	253.153663	37	37	0.530201	1	0	0	0	0	1	0	0	0	--	--		0	A				139	GBM-14-0817-TP	p.V78I	G	ATCTATCACCGTCCCCAAGTT	NM_001004708	NP_001004708	59224665	Q8NGJ1	OR4D6_HUMAN	0			1	232	+	A	A			Missense_Mutation	78			Helical; Name=2; (Potential).			
OR4D6	0	broad.mit.edu	GRCh37	11	59225156	59225156	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2634-01	TCGA-32-2634-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300127.2:c.723G>A	p.Thr241=	p.T241=	ENST00000300127	NM_001004708.1	241	acG/acA	0			1			A	T	uc010rku.1	protein_coding	YES	CCDS31562.1			723/945									ovary(1)	1	c.(721-723)ACG>ACA			Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF300,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 4, subfamily D,				ENSP00000300127		1-Jan	8.24E-06			0.000116					rs758572267,COSM1354988	1-Jan	.		ENST00000300127	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000166884	g.chr11:59225156G>A	15175			LOW								--	--	1																																			0,1	1			p.T241T	NM_001004708	NP_001004708			0,1	OR4D6_HUMAN	OR4D6	HGNC	Q8NGJ1	OR4D6_HUMAN					1	723	+			UPI0000046487	241			Helical; Name=6; (Potential).		SNV	OR4D6,synonymous_variant,p.=,ENST00000300127,NM_001004708.1;	uc010rku.1	c.723G>A	746/1054	1	1			c.723G>A						11	SNP	c.(721-723)ACG>ACA	64	64			ovary(1)	1	Broad	olfactory receptor, family 4, subfamily D,			59225156		0.557	ENSG00000166884	10868	g.chr11:59225156G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							207.120359	KEEP	34	37	-1	52	56	34	37	-1	208.648794	52	56	0.4	1	0	0	0	0	0	0	1	0	--	--		0	A				241	GBM-32-2634-TP	p.T241T	G	CCACGTGCACGTCCCACATGC	NM_001004708	NP_001004708	59225156	Q8NGJ1	OR4D6_HUMAN	0			1	723	+	A	A			Silent	241			Helical; Name=6; (Potential).			
OR4D9	390199	broad.mit.edu	GRCh37	11	59282555	59282555	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01	TCGA-06-5413-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329328.3:c.170C>T	p.Thr57Met	p.T57M	ENST00000329328	NM_001004711.1	57	aCg/aTg	0			1			T	T/M	uc010rkv.1	protein_coding	YES	CCDS31564.1			170/945										0	c.(169-171)ACG>ATG			Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF272,Superfamily_domains:SSF81321	olfactory receptor, family 4, subfamily D,				ENSP00000328563		1-Jan	1.65E-05	9.61E-05				1.50E-05			rs535085659,COSM2153207	1-Jan	.		ENST00000329328	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000172742	g.chr11:59282555C>T	15178			MODERATE		2.64	medium	getma.org/?cm=msa&ty=f&p=OR4D9_HUMAN&rb=1&re=139&var=T57M	getma.org/pdb.php?prot=OR4D9_HUMAN&from=1&to=139&var=T57M	getma.org/?cm=var&var=hg19,11,59282555,C,T&fts=all	T57M	--	--	1																																			0,1	1		benign(0.133)	p.T57M	NM_001004711	NP_001004711		deleterious(0.02)	0,1	OR4D9_HUMAN	OR4D9	HGNC	Q8NGE8	OR4D9_HUMAN					1	170	+			UPI0000061EE8	57			Cytoplasmic (Potential).		SNV	OR4D9,missense_variant,p.Thr57Met,ENST00000329328,NM_001004711.1;	uc010rkv.1	c.170C>T	170/945	2	2			c.170C>T						11	SNP	c.(169-171)ACG>ATG	21	21				0	Broad	olfactory receptor, family 4, subfamily D,			59282555		0.433	ENSG00000172742	10869	g.chr11:59282555C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							186.805285	KEEP	40	36	-1	77	81	40	36	-1	192.50252	77	81	0.321782	1	0	0	0	0	1	0	0	0	--	--		0	T				96	GBM-06-5413-TP	p.T57M	C	CACCTTCATACGCCCATGTAC	NM_001004711	NP_001004711	59282555	Q8NGE8	OR4D9_HUMAN	0			1	170	+	T	T			Missense_Mutation	57			Cytoplasmic (Potential).			
OR4E2	26686		GRCh37	14	22134222	22134222	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000408935.1:c.926C>T	p.Thr309Met	p.T309M	ENST00000408935	NM_001001912.1	309	aCg/aTg	0																																																																																																																																																																																																																																												
OR4K1	79544		GRCh37	14	20404274	20404274	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000285600.4:c.449C>T	p.Ala150Val	p.A150V	ENST00000285600	NM_001004063.2	150	gCg/gTg	0																																																																																																																																																																																																																																												
OR4K1	79544		GRCh37	14	20404282	20404282	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000285600.4:c.457G>A	p.Val153Ile	p.V153I	ENST00000285600	NM_001004063.2	153	Gtt/Att	0																																																																																																																																																																																																																																												
OR4K13	390433	broad.mit.edu	GRCh37	14	20502502	20502502	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01	TCGA-06-0169-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315693.2:c.416G>A	p.Arg139Gln	p.R139Q	ENST00000315693	NM_001004714.1	139	cGg/cAg	0	T:0.0002		1			T	R/Q	uc010tkz.1	protein_coding	YES	CCDS32028.1			416/915									ovary(2)	2	c.(415-417)CGG>CAG			PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF123,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	olfactory receptor, family 4, subfamily K,			T:0	ENSP00000319322		1-Jan	2.47E-05	9.61E-05				3.00E-05			rs373021760,COSM2150283	1-Jan	.		ENST00000315693	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000176253	g.chr14:20502502C>T	15351			MODERATE		0.75	neutral	getma.org/?cm=msa&ty=f&p=OR4KD_HUMAN&rb=139&re=280&var=R139Q	NA	getma.org/?cm=var&var=hg19,14,20502502,C,T&fts=all	R139Q	--	--	1																																			0,1	1		benign(0.393)	p.R139Q	NM_001004714	NP_001004714		tolerated(0.25)	0,1	OR4KD_HUMAN	OR4K13	HGNC	Q8NH42	OR4KD_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)			1	416	-	all_cancers(95;0.00108)		UPI0000041CEB	139			Cytoplasmic (Potential).		SNV	OR4K13,missense_variant,p.Arg139Gln,ENST00000315693,NM_001004714.1;AL359218.1,downstream_gene_variant,,ENST00000580563,;	uc010tkz.1	c.416G>A	418/917	2	2			c.416G>A						14	SNP	c.(415-417)CGG>CAG	21	21			ovary(2)	2	Broad	olfactory receptor, family 4, subfamily K,			20502502		0.488	ENSG00000176253	10878	g.chr14:20502502C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							221.026775	KEEP	40	49	-1	113	118	40	49	-1	233.584735	113	118	0.278169	1	0	0	0	0	1	0	0	0	--	--		0	T				34	GBM-06-0169-TP	p.R139Q	C	AGTGAGCACCCGTGGGCTCAT	NM_001004714	NP_001004714	20502502	Q8NH42	OR4KD_HUMAN	0	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	416	-	T	T	all_cancers(95;0.00108)		Missense_Mutation	139			Cytoplasmic (Potential).			
OR4K13	0	broad.mit.edu	GRCh37	14	20502107	20502107	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315693.2:c.811C>T	p.Leu271Phe	p.L271F	ENST00000315693	NM_001004714.1	271	Ctt/Ttt	0			1			A	L/F	uc010tkz.1	protein_coding	YES	CCDS32028.1			811/915									ovary(2)	2	c.(811-813)CTT>TTT			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF123,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 4, subfamily K,				ENSP00000319322		1-Jan	8.24E-06	0.000101							rs756620210,COSM3401191	1-Jan	.		ENST00000315693	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000176253	g.chr14:20502107G>A	15351			MODERATE		1.875	low	getma.org/?cm=msa&ty=f&p=OR4KD_HUMAN&rb=139&re=280&var=L271F	NA	getma.org/?cm=var&var=hg19,14,20502107,G,A&fts=all	L271F	--	--	1																																			0,1	1		benign(0.167)	p.L271F	NM_001004714	NP_001004714		deleterious(0.04)	0,1	OR4KD_HUMAN	OR4K13	HGNC	Q8NH42	OR4KD_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)			1	811	-	all_cancers(95;0.00108)		UPI0000041CEB	271			Helical; Name=7; (Potential).		SNV	OR4K13,missense_variant,p.Leu271Phe,ENST00000315693,NM_001004714.1;AL359218.1,downstream_gene_variant,,ENST00000580563,;	uc010tkz.1	c.811C>T	813/917	1	1			c.811C>T						14	SNP	c.(811-813)CTT>TTT	62	62			ovary(2)	2	Broad	olfactory receptor, family 4, subfamily K,			20502107		0.378	ENSG00000176253	10878	g.chr14:20502107G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							77.199376	KEEP	14	10	-1	16	8	14	10	-1	77.203969	16	8	0.510638	1	0	0	0	0	1	0	0	0	--	--		0	A				129	GBM-12-5295-TP	p.L271F	G	AACACAGAAAGAATTTTATCT	NM_001004714	NP_001004714	20502107	Q8NH42	OR4KD_HUMAN	0	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	811	-	A	A	all_cancers(95;0.00108)		Missense_Mutation	271			Helical; Name=7; (Potential).			
OR4K13	390433		GRCh37	14	20502539	20502539	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000315693.2:c.379T>C	p.Cys127Arg	p.C127R	ENST00000315693	NM_001004714.1	127	Tgc/Cgc	0																																																																																																																																																																																																																																												
OR4K15	0	broad.mit.edu	GRCh37	14	20443959	20443959	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305051.5:c.282C>T	p.Asp94=	p.D94=	ENST00000305051	NM_001005486.1	94	gaC/gaT	0			1			T	D	uc010tkx.1	protein_coding	YES	CCDS32026.1			282/1047									ovary(1)	1	c.(280-282)GAC>GAT			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF287,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 4, subfamily K,				ENSP00000304077		1-Jan	1.65E-05		8.66E-05					6.06E-05	rs774065100,COSM246249	1-Jan	.		ENST00000305051	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000169488	g.chr14:20443959C>T	15353			LOW								--	--	1																																			0,1	1			p.D94D	NM_001005486	NP_001005486			0,1	OR4KF_HUMAN	OR4K15	HGNC	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)			1	282	+	all_cancers(95;0.00108)		UPI000015F249	94			Helical; Name=2; (Potential).		SNV	OR4K15,synonymous_variant,p.=,ENST00000305051,NM_001005486.1;	uc010tkx.1	c.282C>T	357/1216	2	2			c.282C>T						14	SNP	c.(280-282)GAC>GAT	36	36			ovary(1)	1	Broad	olfactory receptor, family 4, subfamily K,			20443959		0.453	ENSG00000169488	10880	g.chr14:20443959C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							140.260298	KEEP	25	35	-1	57	63	25	35	-1	143.970926	57	63	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	T				177	GBM-19-5959-TP	p.D94D	C	CATTTATAGACGTATGTGTTG	NM_001005486	NP_001005486	20443959	Q8NH41	OR4KF_HUMAN	0	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	282	+	T	T	all_cancers(95;0.00108)		Silent	94			Helical; Name=2; (Potential).			
OR4K17	0	broad.mit.edu	GRCh37	14	20586156	20586156	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5951-01	TCGA-19-5951-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315543.4:c.591G>A	p.Leu197=	p.L197=	ENST00000315543	NM_001004715.1	197	ttG/ttA	0			1			A	L	uc001vwo.1	protein_coding	YES	CCDS32030.1			591/1032									skin(3)	3	c.(589-591)TTG>TTA			PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF322,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 4, subfamily K,				ENSP00000319197		1-Jan									COSM2156619	1-Jan	.		ENST00000315543	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000176230	g.chr14:20586156G>A	15355			LOW								--	--	1																																			1	1			p.L197L	NM_001004715	NP_001004715			1	OR4KH_HUMAN	OR4K17	HGNC	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)			1	591	+	all_cancers(95;0.00108)		UPI000004B1EA	169			Extracellular (Potential).		SNV	OR4K17,synonymous_variant,p.=,ENST00000315543,NM_001004715.1;	uc001vwo.1	c.591G>A	591/1032	1	1			c.591G>A						14	SNP	c.(589-591)TTG>TTA	59	59			skin(3)	3	Broad	olfactory receptor, family 4, subfamily K,			20586156		0.428	ENSG00000176230	10881	g.chr14:20586156G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							260.89156	KEEP	49	55	-1	55	67	49	55	-1	261.453315	55	67	0.443902	1	0	0	0	0	0	0	1	0	--	--		0	A				171	GBM-19-5951-TP	p.L197L	G	CTGTGAACTTGCCCTTTTGTG	NM_001004715	NP_001004715	20586156	Q8NGC6	OR4KH_HUMAN	0	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	591	+	A	A	all_cancers(95;0.00108)		Silent	169			Extracellular (Potential).			
OR4K2	0	broad.mit.edu	GRCh37	14	20344857	20344857	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-26-5134-01	TCGA-26-5134-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298642.2:c.431T>C	p.Leu144Pro	p.L144P	ENST00000298642	NM_001005501.1	144	cTc/cCc	0			1			C	L/P	uc001vwh.1	protein_coding	YES	CCDS32023.1			431/945									ovary(2)|skin(2)	4	c.(430-432)CTC>CCC			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF260,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 4, subfamily K,				ENSP00000298642		1-Jan									COSM2156993	1-Jan	.		ENST00000298642	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000165762	g.chr14:20344857T>C	14728			MODERATE		3.85	high	getma.org/?cm=msa&ty=f&p=OR4K2_HUMAN&rb=139&re=280&var=L144P	NA	getma.org/?cm=var&var=hg19,14,20344857,T,C&fts=all	L144P	--	--	1																																			1	1		probably_damaging(0.986)	p.L144P	NM_001005501	NP_001005501		deleterious(0)	1	OR4K2_HUMAN	OR4K2	HGNC	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)			1	431	+	all_cancers(95;0.00108)		UPI0000041B4D	144			Helical; Name=4; (Potential).		SNV	OR4K2,missense_variant,p.Leu144Pro,ENST00000298642,NM_001005501.1;	uc001vwh.1	c.431T>C	467/1078	3	3			c.431T>C						14	SNP	c.(430-432)CTC>CCC	11	11			ovary(2)|skin(2)	4	Broad	olfactory receptor, family 4, subfamily K,			20344857		0.463	ENSG00000165762	10882	g.chr14:20344857T>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							613.618664	KEEP	94	87	-1	147	149	94	87	-1	618.662443	147	149	0.387168	1	0	0	0	0	1	0	0	0	--	--		0	C				183	GBM-26-5134-TP	p.L144P	T	TGTGTTGCTCTCGTGGTGGCT	NM_001005501	NP_001005501	20344857	Q8NGD2	OR4K2_HUMAN	0	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	431	+	C	C	all_cancers(95;0.00108)		Missense_Mutation	144			Helical; Name=4; (Potential).			
OR4K2	390431		GRCh37	14	20345324	20345324	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000298642.2:c.898A>G	p.Lys300Glu	p.K300E	ENST00000298642	NM_001005501.1	300	Aaa/Gaa	0																																																																																																																																																																																																																																												
OR4K5	79317	broad.mit.edu	GRCh37	14	20389501	20389501	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0188-01	TCGA-06-0188-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315915.4:c.736del	p.Val246Ter	p.V246*	ENST00000315915	NM_001005483.1	246	Gta/ta	0			1			-	V/X	uc010tkw.1	protein_coding	YES	CCDS32024.1			736/972									ovary(1)|skin(1)	2	c.(736-738)GTAfs			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF46,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 4, subfamily K,				ENSP00000319511		1-Jan									COSM2150584	1-Jan	.		ENST00000315915	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000176281	g.chr14:20389501delG	14745			HIGH								--	--	1																																			1	1			p.V246fs	NM_001005483	NP_001005483			1	OR4K5_HUMAN	OR4K5	HGNC	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)			1	736	+	all_cancers(95;0.00108)		UPI0000061E9E	246			Helical; Name=6; (Potential).		deletion	OR4K5,frameshift_variant,p.Val246Ter,ENST00000315915,NM_001005483.1;	uc010tkw.1	c.736delG	761/1078	5	5			c.736delG						14	DEL	c.(736-738)GTAfs	56	56			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 4, subfamily K,			20389501		0.398	ENSG00000176281	10883	g.chr14:20389501delG	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity																				0.21	1	1	0	1	0	0	0	0	0	--	--		0	-				41	GBM-06-0188-TP	p.V246fs	G	CCATATTGCAGTAGTAATATT	NM_001005483	NP_001005483	20389501	Q8NGD3	OR4K5_HUMAN	0	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	736	+	-	-	all_cancers(95;0.00108)		Frame_Shift_Del	246			Helical; Name=6; (Potential).			
OR4K5	0	broad.mit.edu	GRCh37	14	20389343	20389343	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-32-4719-01	TCGA-32-4719-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315915.4:c.578A>T	p.Tyr193Phe	p.Y193F	ENST00000315915	NM_001005483.1	193	tAc/tTc	0			1			T	Y/F	uc010tkw.1	protein_coding	YES	CCDS32024.1			578/972									ovary(1)|skin(1)	2	c.(577-579)TAC>TTC			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF46,Superfamily_domains:SSF81321	olfactory receptor, family 4, subfamily K,				ENSP00000319511		1-Jan									COSM2028472	1-Jan	.		ENST00000315915	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000176281	g.chr14:20389343A>T	14745			MODERATE		0.93	low	getma.org/?cm=msa&ty=f&p=OR4K5_HUMAN&rb=139&re=280&var=Y193F	NA	getma.org/?cm=var&var=hg19,14,20389343,A,T&fts=all	Y193F	--	--	1																																			1	1		probably_damaging(0.909)	p.Y193F	NM_001005483	NP_001005483		deleterious(0.03)	1	OR4K5_HUMAN	OR4K5	HGNC	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)			1	578	+	all_cancers(95;0.00108)		UPI0000061E9E	193			Extracellular (Potential).		SNV	OR4K5,missense_variant,p.Tyr193Phe,ENST00000315915,NM_001005483.1;	uc010tkw.1	c.578A>T	603/1078	2	2			c.578A>T						14	SNP	c.(577-579)TAC>TTC	41	41			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 4, subfamily K,			20389343		0.393	ENSG00000176281	10883	g.chr14:20389343A>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							607.494783	KEEP	111	121	-1	201	225	111	121	-1	619.055345	201	225	0.351759	1	0	0	0	0	1	0	0	0	--	--		0	T				248	GBM-32-4719-TP	p.Y193F	A	CTGGACTCTTACATCATTGAA	NM_001005483	NP_001005483	20389343	Q8NGD3	OR4K5_HUMAN	0	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	578	+	T	T	all_cancers(95;0.00108)		Missense_Mutation	193			Extracellular (Potential).			
OR4K5	0	broad.mit.edu	GRCh37	14	20388930	20388930	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-76-4935-01	TCGA-76-4935-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315915.4:c.165G>T	p.Leu55=	p.L55=	ENST00000315915	NM_001005483.1	55	ctG/ctT	0			1			T	L	uc010tkw.1	protein_coding	YES	CCDS32024.1			165/972									ovary(1)|skin(1)	2	c.(163-165)CTG>CTT			Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF46,Superfamily_domains:SSF81321	olfactory receptor, family 4, subfamily K,				ENSP00000319511		1-Jan	1.65E-05					1.50E-05	0.0011		rs778396933,COSM3401190	1-Jan	.		ENST00000315915	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000176281	g.chr14:20388930G>T	14745			LOW								--	--	1																																			0,1	1			p.L55L	NM_001005483	NP_001005483			0,1	OR4K5_HUMAN	OR4K5	HGNC	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)			1	165	+	all_cancers(95;0.00108)		UPI0000061E9E	55			Cytoplasmic (Potential).		SNV	OR4K5,synonymous_variant,p.=,ENST00000315915,NM_001005483.1;	uc010tkw.1	c.165G>T	190/1078	2	2			c.165G>T						14	SNP	c.(163-165)CTG>CTT	45	45			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 4, subfamily K,			20388930		0.408	ENSG00000176281	10883	g.chr14:20388930G>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-159.860735	KEEP	10	6	0.625	389	375	10	6	0.625	23.539605	389	375	0.021008	1	0	0	0	0	0	0	1	0	--	--		0	T				273	GBM-76-4935-TP	p.L55L	G	ATACCAGCCTGCACTCCCCTA	NM_001005483	NP_001005483	20388930	Q8NGD3	OR4K5_HUMAN	0	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	165	+	T	T	all_cancers(95;0.00108)		Silent	55			Cytoplasmic (Potential).			
OR4M1	0	broad.mit.edu	GRCh37	14	20248846	20248846	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs143164519	byFrequency	TCGA-12-5301-01	TCGA-12-5301-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315957.4:c.365G>A	p.Arg122His	p.R122H	ENST00000315957	NM_001005500.1	122	cGc/cAc	0	T:0.0002	A:0	1	A:0		A	R/H	uc010tku.1	protein_coding	YES	CCDS32021.1			365/942										0	c.(364-366)CGC>CAC			PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF53,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 4, subfamily M,		A:0.001	T:0.0002	ENSP00000319654	A:0	1-Jan	0.000873	0.000288	0.000259	0.00116		1.50E-05		0.00539	rs143164519,COSM2028288	1-Jan	common_variant		ENST00000315957	Transcript		A:0.0010	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000176299	g.chr14:20248846G>A	14735			MODERATE		3.025	medium	getma.org/?cm=msa&ty=f&p=OR4M1_HUMAN&rb=1&re=138&var=R122H	getma.org/pdb.php?prot=OR4M1_HUMAN&from=1&to=138&var=R122H	getma.org/?cm=var&var=hg19,14,20248846,G,A&fts=all	R122H	--	--	1																																			0,1	1		benign(0.019)	p.R122H	NM_001005500	NP_001005500	A:0.0041	deleterious(0.02)	0,1	OR4M1_HUMAN	OR4M1	HGNC	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)			1	365	+	all_cancers(95;0.00108)		UPI0000061F0F	122			Cytoplasmic (Potential).		SNV	OR4M1,missense_variant,p.Arg122His,ENST00000315957,NM_001005500.1;OR4N2,intron_variant,,ENST00000557414,;	uc010tku.1	c.365G>A	446/1116	1	1			c.365G>A						14	SNP	c.(364-366)CGC>CAC	63	63				0	Broad	olfactory receptor, family 4, subfamily M,			20248846		0.502	ENSG00000176299	10885	g.chr14:20248846G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							305.169731	KEEP	86	88	-1	378	337	86	88	-1	374.060215	378	337	0.202622	1	0	0	0	0	1	0	0	0	--	--		0	A				131	GBM-12-5301-TP	p.R122H	G	GCCTATGACCGCTATGCTGCT	NM_001005500	NP_001005500	20248846	Q8NGD0	OR4M1_HUMAN	0	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	365	+	A	A	all_cancers(95;0.00108)		Missense_Mutation	122			Cytoplasmic (Potential).			
OR4M1	0	broad.mit.edu	GRCh37	14	20249338	20249338	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01	TCGA-26-6174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315957.4:c.857C>T	p.Pro286Leu	p.P286L	ENST00000315957	NM_001005500.1	286	cCc/cTc	0			1			T	P/L	uc010tku.1	protein_coding	YES	CCDS32021.1			857/942										0	c.(856-858)CCC>CTC			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF53,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00245	olfactory receptor, family 4, subfamily M,				ENSP00000319654		1-Jan	1.65E-05					3.00E-05			rs762783313,COSM3401185	1-Jan	.		ENST00000315957	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000176299	g.chr14:20249338C>T	14735			MODERATE		3.27	medium	getma.org/?cm=msa&ty=f&p=OR4M1_HUMAN&rb=283&re=313&var=P286L	NA	getma.org/?cm=var&var=hg19,14,20249338,C,T&fts=all	P286L	--	--	1																																			0,1	1		probably_damaging(0.979)	p.P286L	NM_001005500	NP_001005500		deleterious(0)	0,1	OR4M1_HUMAN	OR4M1	HGNC	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)			1	857	+	all_cancers(95;0.00108)		UPI0000061F0F	286			Helical; Name=7; (Potential).		SNV	OR4M1,missense_variant,p.Pro286Leu,ENST00000315957,NM_001005500.1;OR4N2,intron_variant,,ENST00000557414,;	uc010tku.1	c.857C>T	938/1116	2	2			c.857C>T						14	SNP	c.(856-858)CCC>CTC	22	22				0	Broad	olfactory receptor, family 4, subfamily M,			20249338		0.363	ENSG00000176299	10885	g.chr14:20249338C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							42.569137	KEEP	7	11	-1	29	22	7	11	-1	45.858778	29	22	0.258065	1	0	0	0	0	1	0	0	0	--	--		0	T				188	GBM-26-6174-TP	p.P286L	C	TTACTTAATCCCATTATTTAC	NM_001005500	NP_001005500	20249338	Q8NGD0	OR4M1_HUMAN	0	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	857	+	T	T	all_cancers(95;0.00108)		Missense_Mutation	286			Helical; Name=7; (Potential).			
OR4M1	441670		GRCh37	14	20249075	20249075	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000315957.4:c.594G>T	p.Val198=	p.V198=	ENST00000315957	NM_001005500.1	198	gtG/gtT	0																																																																																																																																																																																																																																												
OR4M1	441670		GRCh37	14	20248896	20248896	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000315957.4:c.415C>T	p.Arg139Cys	p.R139C	ENST00000315957	NM_001005500.1	139	Cgt/Tgt	0																																																																																																																																																																																																																																												
OR4N2	390429	broad.mit.edu	GRCh37	14	20295961	20295961	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0129-01	TCGA-06-0129-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315947.1:c.354G>A	p.Met118Ile	p.M118I	ENST00000315947	NM_001004723.1	118	atG/atA	0			1			A	M/I	uc010tkv.1	protein_coding	YES	CCDS32022.1			354/924									ovary(2)|central_nervous_system(1)|skin(1)	4	c.(352-354)ATG>ATA			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF155,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 4, subfamily N,				ENSP00000319601		1-Jan									COSM3401187	1-Jan	.		ENST00000315947	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000176294	g.chr14:20295961G>A	14742			MODERATE		3.605	high	getma.org/?cm=msa&ty=f&p=OR4N2_HUMAN&rb=1&re=138&var=M118I	getma.org/pdb.php?prot=OR4N2_HUMAN&from=1&to=138&var=M118I	getma.org/?cm=var&var=hg19,14,20295961,G,A&fts=all	M118I	--	--	1																																			1	1		probably_damaging(0.995)	p.M118I	NM_001004723	NP_001004723		deleterious(0)	1	OR4N2_HUMAN	OR4N2	HGNC	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	H3BTD8_HUMAN,G3V4W1_HUMAN,G3V3W5_HUMAN		1	354	+	all_cancers(95;0.00108)		UPI000004A5DF	118			Helical; Name=3; (Potential).		SNV	OR4N2,missense_variant,p.Met118Ile,ENST00000568211,;OR4N2,missense_variant,p.Met118Ile,ENST00000315947,NM_001004723.1;OR4N2,missense_variant,p.Met118Ile,ENST00000557677,;OR4N2,downstream_gene_variant,,ENST00000557414,;	uc010tkv.1	c.354G>A	354/924	1	1			c.354G>A						14	SNP	c.(352-354)ATG>ATA	61	61			ovary(2)|central_nervous_system(1)|skin(1)	4	Broad	olfactory receptor, family 4, subfamily N,			20295961		0.517	ENSG00000176294	10887	g.chr14:20295961G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-65.147412	KEEP	20	19	-1	312	264	20	19	-1	39.771643	312	264	0.046122	1	0	0	0	0	1	0	0	0	--	--		0	A				15	GBM-06-0129-TP	p.M118I	G	TTGTTGTGATGGCCTTTGACC	NM_001004723	NP_001004723	20295961	Q8NGD1	OR4N2_HUMAN	0	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	354	+	A	A	all_cancers(95;0.00108)		Missense_Mutation	118			Helical; Name=3; (Potential).			
OR4N2	0	broad.mit.edu	GRCh37	14	20295720	20295720	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-14-0790-01	TCGA-14-0790-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315947.1:c.113T>C	p.Ile38Thr	p.I38T	ENST00000315947	NM_001004723.1	38	aTc/aCc	0			1			C	I/T	uc010tkv.1	protein_coding	YES	CCDS32022.1			113/924									ovary(2)|central_nervous_system(1)|skin(1)	4	c.(112-114)ATC>ACC			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF155,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 4, subfamily N,				ENSP00000319601		1-Jan									COSM3401186	1-Jan	.		ENST00000315947	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000176294	g.chr14:20295720T>C	14742			MODERATE		-1.925	neutral	getma.org/?cm=msa&ty=f&p=OR4N2_HUMAN&rb=1&re=138&var=I38T	getma.org/pdb.php?prot=OR4N2_HUMAN&from=1&to=138&var=I38T	getma.org/?cm=var&var=hg19,14,20295720,T,C&fts=all	I38T	--	--	1																																			1	1		possibly_damaging(0.611)	p.I38T	NM_001004723	NP_001004723		tolerated(0.86)	1	OR4N2_HUMAN	OR4N2	HGNC	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	H3BTD8_HUMAN,G3V4W1_HUMAN,G3V3W5_HUMAN		1	113	+	all_cancers(95;0.00108)		UPI000004A5DF	38			Helical; Name=1; (Potential).		SNV	OR4N2,missense_variant,p.Ile38Thr,ENST00000315947,NM_001004723.1;OR4N2,missense_variant,p.Ile38Thr,ENST00000568211,;OR4N2,missense_variant,p.Ile38Thr,ENST00000557677,;OR4N2,downstream_gene_variant,,ENST00000557414,;	uc010tkv.1	c.113T>C	113/924	4	4			c.113T>C						14	SNP	c.(112-114)ATC>ACC	43	43			ovary(2)|central_nervous_system(1)|skin(1)	4	Broad	olfactory receptor, family 4, subfamily N,			20295720		0.438	ENSG00000176294	10887	g.chr14:20295720T>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-99.950717	KEEP	6	5	-1	256	264	6	5	-1	23.732267	256	264	0.022587	1	0	0	0	0	1	0	0	0	--	--		0	C				137	GBM-14-0790-TP	p.I38T	T	TACTTCATCATCCTCCCTGGA	NM_001004723	NP_001004723	20295720	Q8NGD1	OR4N2_HUMAN	0	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	113	+	C	C	all_cancers(95;0.00108)		Missense_Mutation	38			Helical; Name=1; (Potential).			
OR4N3P	390539		GRCh37	15	22413894	22413894	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000559395.2:n.326A>T		p.*109*	ENST00000559395				0																																																																																																																																																																																																																																												
OR4N4	283694	broad.mit.edu	GRCh37	15	22382513	22382513	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0192-01	TCGA-06-0192-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328795.4:c.41T>A	p.Leu14His	p.L14H	ENST00000328795	NM_001005241.2	14	cTc/cAc	0			1			A	L/H	uc001yuc.1	protein_coding	YES	CCDS32173.1			41/951									ovary(4)|skin(1)	5	c.(40-42)CTC>CAC			hmmpanther:PTHR26451:SF97,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 4, subfamily N,				ENSP00000332500		1-Jan									COSM2150653	1-Jan	.		ENST00000328795	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000183706	g.chr15:22382513T>A	15375			MODERATE		4.465	high	getma.org/?cm=msa&ty=f&p=OR4N4_HUMAN&rb=1&re=138&var=L14H	NA	getma.org/?cm=var&var=hg19,15,22382513,T,A&fts=all	L14H	--	--	1																																		LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Missense_Mutation_p.L14H	1	1		probably_damaging(0.954)	p.L14H	NM_001005241	NP_001005241		deleterious(0)	1	OR4N4_HUMAN	OR4N4	HGNC	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)			7	1022	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	UPI0000041C1A	14			Extracellular (Potential).		SNV	OR4N4,missense_variant,p.Leu14His,ENST00000328795,NM_001005241.2;RP11-69H14.6,non_coding_transcript_exon_variant,,ENST00000558896,;RP11-69H14.6,non_coding_transcript_exon_variant,,ENST00000558312,;RP11-69H14.6,intron_variant,,ENST00000558798,;RP11-69H14.6,intron_variant,,ENST00000559392,;	uc001yuc.1	c.41T>A	132/1126	1	1			c.41T>A						15	SNP	c.(40-42)CTC>CAC	58	58			ovary(4)|skin(1)	5	Broad	olfactory receptor, family 4, subfamily N,			22382513		0.343	ENSG00000183706	10888	g.chr15:22382513T>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							221.8322	KEEP	62	53	-1	132	77	62	53	-1	225.360799	132	77	0.361905	1	0	0	0	0	1	0	0	0	--	--		0	A			LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Missense_Mutation_p.L14H	44	GBM-06-0192-TP	p.L14H	T	GAATTTATCCTCCTTGGTCTG	NM_001005241	NP_001005241	22382513	Q8N0Y3	OR4N4_HUMAN	0	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	7	1022	+	A	A		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	Missense_Mutation	14			Extracellular (Potential).			
OR4N5	390437	broad.mit.edu	GRCh37	14	20612258	20612258	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01	TCGA-06-0126-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333629.1:c.364C>T	p.Arg122Cys	p.R122C	ENST00000333629	NM_001004724.1	122	Cgc/Tgc	0	T:0.0002	A:0	1	A:0		T	R/C	uc010tla.1	protein_coding	YES	CCDS32031.1			364/927									ovary(1)	1	c.(364-366)CGC>TGC			PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF40,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 4, subfamily N,		A:0	T:0	ENSP00000332110	A:0.001	1-Jan	1.65E-05	9.61E-05				1.50E-05			rs202234247,COSM2149428	1-Jan	.		ENST00000333629	Transcript		A:0.0002	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000184394	g.chr14:20612258C>T	15358			MODERATE		2.92	medium	getma.org/?cm=msa&ty=f&p=OR4N5_HUMAN&rb=1&re=138&var=R122C	getma.org/pdb.php?prot=OR4N5_HUMAN&from=1&to=138&var=R122C	getma.org/?cm=var&var=hg19,14,20612258,C,T&fts=all	R122C	2.265	medium	1																																			0,1	1		benign(0.028)	p.R122C	NM_001004724	NP_001004724	A:0	deleterious(0.03)	0,1	OR4N5_HUMAN	OR4N5	HGNC	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)			1	364	+	all_cancers(95;0.00108)		UPI0000041C40	122			Cytoplasmic (Potential).		SNV	OR4N5,missense_variant,p.Arg122Cys,ENST00000333629,NM_001004724.1;RNA5SP381,downstream_gene_variant,,ENST00000516076,;	uc010tla.1	c.364C>T	364/927	2	2			c.364C>T						14	SNP	c.(364-366)CGC>TGC	26	26			ovary(1)	1	Broad	olfactory receptor, family 4, subfamily N,			20612258		0.483	ENSG00000184394	10889	g.chr14:20612258C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							405.137555	KEEP	87	51	-1	125	72	87	51	-1	407.192165	125	72	0.412903	1	0	0	0	0	1	0	0	0	2.265	medium		0	T				13	GBM-06-0126-TP	p.R122C	C	GGCCTTTGACCGCTACATCGC	NM_001004724	NP_001004724	20612258	Q8IXE1	OR4N5_HUMAN	0	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	364	+	T	T	all_cancers(95;0.00108)		Missense_Mutation	122			Cytoplasmic (Potential).			
OR4N5	390437	broad.mit.edu	GRCh37	14	20612259	20612259	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333629.1:c.365G>A	p.Arg122His	p.R122H	ENST00000333629	NM_001004724.1	122	cGc/cAc	0			1			A	R/H	uc010tla.1	protein_coding	YES	CCDS32031.1			365/927									ovary(1)	1	c.(364-366)CGC>CAC			PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF40,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 4, subfamily N,				ENSP00000332110		1-Jan										1-Jan	.		ENST00000333629	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000184394	g.chr14:20612259G>A	15358			MODERATE		3.08	medium	getma.org/?cm=msa&ty=f&p=OR4N5_HUMAN&rb=1&re=138&var=R122H	getma.org/pdb.php?prot=OR4N5_HUMAN&from=1&to=138&var=R122H	getma.org/?cm=var&var=hg19,14,20612259,G,A&fts=all	R122H	--	--	1																																				1		benign(0.028)	p.R122H	NM_001004724	NP_001004724		deleterious(0.03)		OR4N5_HUMAN	OR4N5	HGNC	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)			1	365	+	all_cancers(95;0.00108)		UPI0000041C40	122			Cytoplasmic (Potential).		SNV	OR4N5,missense_variant,p.Arg122His,ENST00000333629,NM_001004724.1;RNA5SP381,downstream_gene_variant,,ENST00000516076,;	uc010tla.1	c.365G>A	365/927	2	2			c.365G>A						14	SNP	c.(364-366)CGC>CAC	22	22			ovary(1)	1	Broad	olfactory receptor, family 4, subfamily N,			20612259		0.478	ENSG00000184394	10889	g.chr14:20612259G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-70.045958	KEEP	5	3	-1	189	145	5	3	-1	11.926212	189	145	0.021807	1	0	0	0	0	1	0	0	0	--	--		0	A				18	GBM-06-0137-TP	p.R122H	G	GCCTTTGACCGCTACATCGCC	NM_001004724	NP_001004724	20612259	Q8IXE1	OR4N5_HUMAN	0	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	365	+	A	A	all_cancers(95;0.00108)		Missense_Mutation	122			Cytoplasmic (Potential).			
OR4P4	81300	broad.mit.edu	GRCh37	11	55406071	55406071	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0209-01	TCGA-06-0209-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314612.2:c.238A>G	p.Met80Val	p.M80V	ENST00000314612	NM_001004124.1	80	Atg/Gtg	0			1			G	M/V	uc010rij.1	protein_coding	YES	CCDS31504.1			238/939									central_nervous_system(1)	1	c.(238-240)ATG>GTG			Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF290,Superfamily_domains:SSF81321	olfactory receptor, family 4, subfamily P,				ENSP00000324831		1-Jan									COSM3397784	1-Jan	.		ENST00000314612	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000181927	g.chr11:55406071A>G	15180			MODERATE		0.495	neutral	getma.org/?cm=msa&ty=f&p=OR4P4_HUMAN&rb=1&re=136&var=M80V	getma.org/pdb.php?prot=OR4P4_HUMAN&from=1&to=136&var=M80V	getma.org/?cm=var&var=hg19,11,55406071,A,G&fts=all	M80V	--	--	1																																			1	1		benign(0.001)	p.M80V	NM_001004124	NP_001004124		tolerated(0.14)	1	OR4P4_HUMAN	OR4P4	HGNC	Q8NGL7	OR4P4_HUMAN					1	238	+			UPI0000061E8A	80			Extracellular (Potential).		SNV	OR4P4,missense_variant,p.Met80Val,ENST00000314612,NM_001004124.1;	uc010rij.1	c.238A>G	238/939	4	4			c.238A>G						11	SNP	c.(238-240)ATG>GTG	32	32			central_nervous_system(1)	1	Broad	olfactory receptor, family 4, subfamily P,			55406071		0.413	ENSG00000181927	10890	g.chr11:55406071A>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							200.557893	KEEP	36	34	-1	106	115	36	34	-1	216.205393	106	115	0.245283	1	0	0	0	0	1	0	0	0	--	--		0	G				46	GBM-06-0209-TP	p.M80V	A	CCCCAAATTAATGGTTGACTT	NM_001004124	NP_001004124	55406071	Q8NGL7	OR4P4_HUMAN	0			1	238	+	G	G			Missense_Mutation	80			Extracellular (Potential).			
OR4P4	81300	broad.mit.edu	GRCh37	11	55406751	55406751	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-5414-01	TCGA-06-5414-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314612.2:c.918G>T	p.Leu306=	p.L306=	ENST00000314612	NM_001004124.1	306	ctG/ctT	0			1			T	L	uc010rij.1	protein_coding	YES	CCDS31504.1			918/939									central_nervous_system(1)	1	c.(916-918)CTG>CTT			Superfamily_domains:SSF81321	olfactory receptor, family 4, subfamily P,				ENSP00000324831		1-Jan									COSM3397785	1-Jan	.		ENST00000314612	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000181927	g.chr11:55406751G>T	15180			LOW								--	--	1																																			1	1			p.L306L	NM_001004124	NP_001004124			1	OR4P4_HUMAN	OR4P4	HGNC	Q8NGL7	OR4P4_HUMAN					1	918	+			UPI0000061E8A	306			Cytoplasmic (Potential).		SNV	OR4P4,synonymous_variant,p.=,ENST00000314612,NM_001004124.1;	uc010rij.1	c.918G>T	918/939	2	2			c.918G>T						11	SNP	c.(916-918)CTG>CTT	32	32			central_nervous_system(1)	1	Broad	olfactory receptor, family 4, subfamily P,			55406751		0.398	ENSG00000181927	10890	g.chr11:55406751G>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							54.078218	KEEP	10	11	0.476190476	20	22	10	11	0.476190476	55.555146	20	22	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	T				97	GBM-06-5414-TP	p.L306L	G	AAATACTCCTGAAAAGAAATC	NM_001004124	NP_001004124	55406751	Q8NGL7	OR4P4_HUMAN	0			1	918	+	T	T			Silent	306			Cytoplasmic (Potential).			
OR4P4	0	broad.mit.edu	GRCh37	11	55406609	55406609	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2518-01	TCGA-27-2518-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314612.2:c.776C>T	p.Pro259Leu	p.P259L	ENST00000314612	NM_001004124.1	259	cCg/cTg	0			1			T	P/L	uc010rij.1	protein_coding	YES	CCDS31504.1			776/939									central_nervous_system(1)	1	c.(775-777)CCG>CTG			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF290,Superfamily_domains:SSF81321	olfactory receptor, family 4, subfamily P,				ENSP00000324831		1-Jan	8.77E-06					1.62E-05			rs753984758,COSM2157284	1-Jan	.		ENST00000314612	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000181927	g.chr11:55406609C>T	15180			MODERATE		3.17	medium	getma.org/?cm=msa&ty=f&p=OR4P4_HUMAN&rb=137&re=278&var=P259L	NA	getma.org/?cm=var&var=hg19,11,55406609,C,T&fts=all	P259L	--	--	1																																			0,1	1		probably_damaging(1)	p.P259L	NM_001004124	NP_001004124		deleterious(0.01)	0,1	OR4P4_HUMAN	OR4P4	HGNC	Q8NGL7	OR4P4_HUMAN					1	776	+			UPI0000061E8A	259			Extracellular (Potential).		SNV	OR4P4,missense_variant,p.Pro259Leu,ENST00000314612,NM_001004124.1;	uc010rij.1	c.776C>T	776/939	2	2			c.776C>T						11	SNP	c.(775-777)CCG>CTG	47	47			central_nervous_system(1)	1	Broad	olfactory receptor, family 4, subfamily P,			55406609		0.418	ENSG00000181927	10890	g.chr11:55406609C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							198.339563	KEEP	45	38	-1	121	109	45	38	-1	212.332031	121	109	0.260223	1	0	0	0	0	1	0	0	0	--	--		0	T				198	GBM-27-2518-TP	p.P259L	C	TACATTAGACCGGTCACAACA	NM_001004124	NP_001004124	55406609	Q8NGL7	OR4P4_HUMAN	0			1	776	+	T	T			Missense_Mutation	259			Extracellular (Potential).			
OR4P4	81300		GRCh37	11	55405976	55405976	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000314612.2:c.143C>T	p.Thr48Met	p.T48M	ENST00000314612	NM_001004124.1	48	aCg/aTg	0																																																																																																																																																																																																																																												
OR4Q3	441669	broad.mit.edu	GRCh37	14	20216091	20216091	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0190-01	TCGA-06-0190-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331723.1:c.505T>C	p.Phe169Leu	p.F169L	ENST00000331723	NM_172194.1	169	Ttc/Ctc	0			1			C	F/L	uc010tkt.1	protein_coding	YES	CCDS32020.1			505/942									breast(3)	3	c.(505-507)TTC>CTC			PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF208,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	olfactory receptor, family 4, subfamily Q,				ENSP00000330049		1-Jan									COSM3401183	1-Jan	.		ENST00000331723	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000182652	g.chr14:20216091T>C	15426			MODERATE		2.47	medium	getma.org/?cm=msa&ty=f&p=OR4Q3_HUMAN&rb=140&re=281&var=F169L	NA	getma.org/?cm=var&var=hg19,14,20216091,T,C&fts=all	F169L	--	--	1																																			1	1		benign(0.038)	p.F169L	NM_172194	NP_751944		deleterious(0)	1	OR4Q3_HUMAN	OR4Q3	HGNC	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)			1	505	+	all_cancers(95;0.00108)		UPI0000061EF0	169			Extracellular (Potential).		SNV	OR4Q3,missense_variant,p.Phe169Leu,ENST00000331723,NM_172194.1;OR4N2,intron_variant,,ENST00000557414,;OR11K2P,intron_variant,,ENST00000593630,;	uc010tkt.1	c.505T>C	505/942	4	4			c.505T>C						14	SNP	c.(505-507)TTC>CTC	47	47			breast(3)	3	Broad	olfactory receptor, family 4, subfamily Q,			20216091		0.512	ENSG00000182652	10891	g.chr14:20216091T>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							4.575623	KEEP	15	14	-1	145	130	15	14	-1	55.690555	145	130	0.07326	1	0	0	0	0	1	0	0	0	--	--		0	C				43	GBM-06-0190-TP	p.F169L	T	CCAGCTGCCTTTCTGTGGGCC	NM_172194	NP_751944	20216091	Q8NH05	OR4Q3_HUMAN	0	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	505	+	C	C	all_cancers(95;0.00108)		Missense_Mutation	169			Extracellular (Potential).			
OR4S1	256148	broad.mit.edu	GRCh37	11	48328474	48328474	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-5417-01	TCGA-06-5417-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319988.1:c.700G>T	p.Ala234Ser	p.A234S	ENST00000319988	NM_001004725.1	234	Gct/Tct	0	T:0		1			T	A/S	uc010rhu.1	protein_coding	YES	CCDS31488.1			700/930									ovary(1)	1	c.(700-702)GCT>TCT			PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF226,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	olfactory receptor, family 4, subfamily S,			T:0.0001	ENSP00000321447		1-Jan	2.47E-05					4.50E-05			rs377193891,COSM2153261	1-Jan	.		ENST00000319988	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000176555	g.chr11:48328474G>T	14705			MODERATE		3.54	high	getma.org/?cm=msa&ty=f&p=OR4S1_HUMAN&rb=137&re=278&var=A234S	NA	getma.org/?cm=var&var=hg19,11,48328474,G,T&fts=all	A234S	--	--	1																																			0,1	1		probably_damaging(0.998)	p.A234S	NM_001004725	NP_001004725		deleterious(0)	0,1	OR4S1_HUMAN	OR4S1	HGNC	Q8NGB4	OR4S1_HUMAN					1	700	+			UPI0000041B2E	234			Helical; Name=6; (Potential).		SNV	OR4S1,missense_variant,p.Ala234Ser,ENST00000319988,NM_001004725.1;	uc010rhu.1	c.700G>T	700/930	1	1			c.700G>T						11	SNP	c.(700-702)GCT>TCT	1	1			ovary(1)	1	Broad	olfactory receptor, family 4, subfamily S,			48328474		0.468	ENSG00000176555	10892	g.chr11:48328474G>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							371.729276	KEEP	72	61	0.541353383	77	70	72	61	0.541353383	371.775253	77	70	0.484375	1	0	0	0	0	1	0	0	0	--	--		0	T				99	GBM-06-5417-TP	p.A234S	G	CCGGCGTAAGGCTGTCTCCAC	NM_001004725	NP_001004725	48328474	Q8NGB4	OR4S1_HUMAN	0			1	700	+	T	T			Missense_Mutation	234			Helical; Name=6; (Potential).			
OR4S2	0	broad.mit.edu	GRCh37	11	55419151	55419151	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1986-01	TCGA-32-1986-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312422.2:c.772C>T	p.Arg258Cys	p.R258C	ENST00000312422	NM_001004059.2	258	Cgc/Tgc	0	T:0	T:0	1	T:0.0014		T	R/C	uc001nhs.1	protein_coding	YES	CCDS31505.1			772/936									skin(2)|ovary(1)	3	c.(772-774)CGC>TGC			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF110,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 4, subfamily S,		T:0	T:0.0001	ENSP00000310337	T:0.002	1-Jan	0.00014		0.000857			6.48E-05		0.00013	rs188197652,COSM3397787	1-Jan	common_variant		ENST00000312422	Transcript		T:0.0006	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000174982	g.chr11:55419151C>T	15183			MODERATE		2.645	medium	getma.org/?cm=msa&ty=f&p=OR4S2_HUMAN&rb=137&re=278&var=R258C	NA	getma.org/?cm=var&var=hg19,11,55419151,C,T&fts=all	R258C	--	--	1																																			0,1	1		benign(0.04)	p.R258C	NM_001004059	NP_001004059	T:0	deleterious(0.02)	0,1	OR4S2_HUMAN	OR4S2	HGNC	Q8NH73	OR4S2_HUMAN					1	772	+		all_epithelial(135;0.0748)	UPI00001D77D2	258			Extracellular (Potential).		SNV	OR4S2,missense_variant,p.Arg258Cys,ENST00000312422,NM_001004059.2;	uc001nhs.1	c.772C>T	772/936	2	2			c.772C>T						11	SNP	c.(772-774)CGC>TGC	41	41			skin(2)|ovary(1)	3	Broad	olfactory receptor, family 4, subfamily S,			55419151		0.463	ENSG00000174982	10893	g.chr11:55419151C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							260.434398	KEEP	50	50	-1	88	124	50	50	-1	268.075178	88	124	0.327586	1	0	0	0	0	1	0	0	0	--	--		0	T				233	GBM-32-1986-TP	p.R258C	C	TATGTACATGCGCCCTGATAC	NM_001004059	NP_001004059	55419151	Q8NH73	OR4S2_HUMAN	0			1	772	+	T	T		all_epithelial(135;0.0748)	Missense_Mutation	258			Extracellular (Potential).			
OR4X1	0	broad.mit.edu	GRCh37	11	48285739	48285739	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320048.1:c.327G>A	p.Glu109=	p.E109=	ENST00000320048	NM_001004726.1	109	gaG/gaA	0			1			A	E	uc010rht.1	protein_coding	YES	CCDS31487.1			327/918									ovary(1)|pancreas(1)|skin(1)	3	c.(325-327)GAG>GAA			PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF271,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 4, subfamily X,				ENSP00000321506		1-Jan									COSM3397736	1-Jan	.		ENST00000320048	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000176567	g.chr11:48285739G>A	14854			LOW								--	--	1																																			1	1			p.E109E	NM_001004726	NP_001004726			1	OR4X1_HUMAN	OR4X1	HGNC	Q8NH49	OR4X1_HUMAN					1	327	+			UPI0000041BDE	109			Helical; Name=3; (Potential).		SNV	OR4X1,synonymous_variant,p.=,ENST00000320048,NM_001004726.1;	uc010rht.1	c.327G>A	327/918	2	2			c.327G>A						11	SNP	c.(325-327)GAG>GAA	35	35			ovary(1)|pancreas(1)|skin(1)	3	Broad	olfactory receptor, family 4, subfamily X,			48285739		0.507	ENSG00000176567	10894	g.chr11:48285739G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							94.860925	KEEP	16	14	-1	31	16	16	14	-1	95.456061	31	16	0.402778	1	0	0	0	0	0	0	1	0	--	--		0	A				240	GBM-32-2632-TP	p.E109E	G	GTGGCACTGAGGCCTTTCTCC	NM_001004726	NP_001004726	48285739	Q8NH49	OR4X1_HUMAN	0			1	327	+	A	A			Silent	109			Helical; Name=3; (Potential).			
OR4X2	119764	broad.mit.edu	GRCh37	11	48266683	48266683	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0214-01	TCGA-06-0214-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302329.3:c.28T>C	p.Ser10Pro	p.S10P	ENST00000302329	NM_001004727.1	10	Tct/Cct	0			1			C	S/P	uc001ngs.1	protein_coding	YES	CCDS31486.1			28/912										0	c.(28-30)TCT>CCT			hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF96,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 4, subfamily X,				ENSP00000307751		1-Jan	2.47E-05		0.00026						rs766317711,COSM3397735	1-Jan	.		ENST00000302329	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000172208	g.chr11:48266683T>C	15184			MODERATE		1.62	low	getma.org/?cm=msa&ty=f&p=OR4X2_HUMAN&rb=1&re=130&var=S10P	NA	getma.org/?cm=var&var=hg19,11,48266683,T,C&fts=all	S10P	--	--	1																																			0,1	1		possibly_damaging(0.905)	p.S10P	NM_001004727	NP_001004727		deleterious(0.01)	0,1	OR4X2_HUMAN	OR4X2	HGNC	Q8NGF9	OR4X2_HUMAN					1	28	+			UPI0000041BE3	10			Extracellular (Potential).		SNV	OR4X2,missense_variant,p.Ser10Pro,ENST00000302329,NM_001004727.1;	uc001ngs.1	c.28T>C	76/1015	4	4			c.28T>C						11	SNP	c.(28-30)TCT>CCT	46	46				0	Broad	olfactory receptor, family 4, subfamily X,			48266683		0.423	ENSG00000172208	10895	g.chr11:48266683T>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							18.684899	KEEP	15	11	-1	133	120	15	11	-1	60.520828	133	120	0.086777	1	0	0	0	0	1	0	0	0	--	--		0	C				50	GBM-06-0214-TP	p.S10P	T	TCTGGTACTTTCTCCCAACCA	NM_001004727	NP_001004727	48266683	Q8NGF9	OR4X2_HUMAN	0			1	28	+	C	C			Missense_Mutation	10			Extracellular (Potential).			
OR4X2	119764	broad.mit.edu	GRCh37	11	48266856	48266856	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0876-01	TCGA-06-0876-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302329.3:c.201C>T	p.Ser67=	p.S67=	ENST00000302329	NM_001004727.1	67	tcC/tcT	0			1			T	S	uc001ngs.1	protein_coding	YES	CCDS31486.1			201/912										0	c.(199-201)TCC>TCT			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF96,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 4, subfamily X,				ENSP00000307751		1-Jan	1.65E-05	9.61E-05				1.50E-05			rs773448537,COSM2152119	1-Jan	.		ENST00000302329	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000172208	g.chr11:48266856C>T	15184			LOW								--	--	1																																			0,1	1			p.S67S	NM_001004727	NP_001004727			0,1	OR4X2_HUMAN	OR4X2	HGNC	Q8NGF9	OR4X2_HUMAN					1	201	+			UPI0000041BE3	67			Helical; Name=2; (Potential).		SNV	OR4X2,synonymous_variant,p.=,ENST00000302329,NM_001004727.1;	uc001ngs.1	c.201C>T	249/1015	1	1			c.201C>T						11	SNP	c.(199-201)TCC>TCT	9	9				0	Broad	olfactory receptor, family 4, subfamily X,			48266856		0.502	ENSG00000172208	10895	g.chr11:48266856C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							179.624897	KEEP	38	24	-1	65	48	38	24	-1	182.884163	65	48	0.35119	1	0	0	0	0	0	0	1	0	--	--		0	T				72	GBM-06-0876-TP	p.S67S	C	GCTACTCCTCCGCTACAGCCC	NM_001004727	NP_001004727	48266856	Q8NGF9	OR4X2_HUMAN	0			1	201	+	T	T			Silent	67			Helical; Name=2; (Potential).			
OR51A2	401667	broad.mit.edu	GRCh37	11	4976634	4976634	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-1804-01	TCGA-06-1804-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380371.1:c.310T>A	p.Phe104Ile	p.F104I	ENST00000380371	NM_001004748.1	104	Ttc/Atc	0			1			T	F/I	uc010qyt.1	protein_coding	YES	CCDS31368.1			310/942										0	c.(310-312)TTC>ATC			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF61,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00245	olfactory receptor, family 51, subfamily A,				ENSP00000369729		1-Jan									COSM2152459	1-Jan	.		ENST00000380371	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000205496	g.chr11:4976634A>T	14764			MODERATE		3.475	medium	getma.org/?cm=msa&ty=f&p=O51A2_HUMAN&rb=43&re=293&var=F104I	getma.org/pdb.php?prot=O51A2_HUMAN&from=43&to=293&var=F104I	getma.org/?cm=var&var=hg19,11,4976634,A,T&fts=all	F104I	--	--	1																																			1	1		benign(0.414)	p.F104I	NM_001004748	NP_001004748		deleterious(0.01)	1	O51A2_HUMAN	OR51A2	HGNC	Q8NGJ7	O51A2_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)			1	310	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	UPI0000041B7B	104			Helical; Name=3; (Potential).		SNV	OR51A2,missense_variant,p.Phe104Ile,ENST00000380371,NM_001004748.1;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	uc010qyt.1	c.310T>A	310/942	2	2			c.310T>A						11	SNP	c.(310-312)TTC>ATC	37	37				0	Broad	olfactory receptor, family 51, subfamily A,			4976634		0.448	ENSG00000205496	10896	g.chr11:4976634A>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							154.835382	KEEP	27	20	-1	5	7	27	20	-1	161.330152	5	7	0.862745	1	0	0	0	0	1	0	0	0	--	--		0	T				79	GBM-06-1804-TP	p.F104I	A	TGAATGAAGAATTCCTGGGCA	NM_001004748	NP_001004748	4976634	Q8NGJ7	O51A2_HUMAN	0		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	310	-	T	T		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	Missense_Mutation	104			Helical; Name=3; (Potential).			
OR51A2	0	broad.mit.edu	GRCh37	11	4976146	4976146	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-16-1045-01	TCGA-16-1045-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380371.1:c.798C>T	p.Ala266=	p.A266=	ENST00000380371	NM_001004748.1	266	gcC/gcT	0			1			A	A	uc010qyt.1	protein_coding	YES	CCDS31368.1			798/942										0	c.(796-798)GCC>GCT			PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF61,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	olfactory receptor, family 51, subfamily A,				ENSP00000369729		1-Jan									COSM3397750	1-Jan	.		ENST00000380371	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000205496	g.chr11:4976146G>A	14764			LOW								--	--	1																																			1	1			p.A266A	NM_001004748	NP_001004748			1	O51A2_HUMAN	OR51A2	HGNC	Q8NGJ7	O51A2_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)			1	798	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	UPI0000041B7B	266			Extracellular (Potential).		SNV	OR51A2,synonymous_variant,p.=,ENST00000380371,NM_001004748.1;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	uc010qyt.1	c.798C>T	798/942	1	1			c.798C>T						11	SNP	c.(796-798)GCC>GCT	49	49				0	Broad	olfactory receptor, family 51, subfamily A,			4976146		0.453	ENSG00000205496	10896	g.chr11:4976146G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							105.423072	KEEP	24	30	-1	150	144	24	30	-1	137.920332	150	144	0.162791	1	0	0	0	0	0	0	1	0	--	--		0	A				157	GBM-16-1045-TP	p.A266A	G	AGACATGCCCGGCAAAGCGGT	NM_001004748	NP_001004748	4976146	Q8NGJ7	O51A2_HUMAN	0		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	798	-	A	A		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	Silent	266			Extracellular (Potential).			
OR51A2	401667		GRCh37	11	4976936	4976936	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000380371.1:c.8T>C	p.Ile3Thr	p.I3T	ENST00000380371	NM_001004748.1	3	aTt/aCt	0																																																																																																																																																																																																																																												
OR51A4	0	broad.mit.edu	GRCh37	11	4967921	4967921	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-16-0846-01	TCGA-16-0846-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380373.2:c.410T>C	p.Ile137Thr	p.I137T	ENST00000380373	NM_001005329.1	137	aTc/aCc	0			1			G	I/T	uc010qys.1	protein_coding	YES	CCDS31367.1			410/942									ovary(2)|skin(1)	3	c.(409-411)ATC>ACC			PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF61,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	olfactory receptor, family 51, subfamily A,				ENSP00000369731		1-Jan									COSM3397749	1-Jan	.		ENST00000380373	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000205497	g.chr11:4967921A>G	14795			MODERATE		2.99	medium	getma.org/?cm=msa&ty=f&p=O51A4_HUMAN&rb=43&re=293&var=I137T	getma.org/pdb.php?prot=O51A4_HUMAN&from=43&to=293&var=I137T	getma.org/?cm=var&var=hg19,11,4967921,A,G&fts=all	I137T	--	--	1																																			1	1		benign(0.261)	p.I137T	NM_001005329	NP_001005329		deleterious(0.01)	1	O51A4_HUMAN	OR51A4	HGNC	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)			1	410	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	UPI0000047195	137			Cytoplasmic (Potential).		SNV	OR51A4,missense_variant,p.Ile137Thr,ENST00000380373,NM_001005329.1;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	uc010qys.1	c.410T>C	436/1002	3	3			c.410T>C						11	SNP	c.(409-411)ATC>ACC	61	61			ovary(2)|skin(1)	3	Broad	olfactory receptor, family 51, subfamily A,			4967921		0.428	ENSG00000205497	10897	g.chr11:4967921A>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							450.765347	KEEP	96	72	-1	240	144	96	72	-1	465.276164	240	144	0.311547	1	0	0	0	0	1	0	0	0	--	--		0	G				155	GBM-16-0846-TP	p.I137T	A	AGTTGTCAGGATTGAGGTGTA	NM_001005329	NP_001005329	4967921	Q8NGJ6	O51A4_HUMAN	0		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	410	-	G	G		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	Missense_Mutation	137			Cytoplasmic (Potential).			
OR51B2	0	broad.mit.edu	GRCh37	11	5344773	5344773	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2524-01	TCGA-27-2524-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328813.2:c.755C>T	p.Thr252Ile	p.T252I	ENST00000328813	NM_033180.4	252	aCa/aTa	0	A:0		1			A	T/I	uc001mao.1	protein_coding	YES	CCDS31377.1			755/939									ovary(2)|skin(1)	3	c.(754-756)ACA>ATA			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF76,hmmpanther:PTHR26450,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 51, subfamily B,			A:0.0001	ENSP00000327540		1-Jan	0.000173	9.61E-05	0.000261	0.000231		0.000225			rs200357780,COSM3397765	1-Jan	.		ENST00000328813	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000184881	g.chr11:5344773G>A	14703			MODERATE		3.055	medium	getma.org/?cm=msa&ty=f&p=O51B2_HUMAN&rb=138&re=283&var=T252I	NA	getma.org/?cm=var&var=hg19,11,5344773,G,A&fts=all	T252I	--	--	1																																		HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	0,1	1		possibly_damaging(0.848)	p.T252I	NM_033180	NP_149420		deleterious(0)	0,1	O51B2_HUMAN	OR51B2	HGNC	Q9Y5P1	O51B2_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)			1	810	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	UPI0000456470	252			Helical; Name=6; (Potential).		SNV	OR51B2,missense_variant,p.Thr252Ile,ENST00000328813,NM_033180.4;HBG2,intron_variant,,ENST00000380259,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000396895,;AC104389.28,intron_variant,,ENST00000420465,;	uc001mao.1	c.755C>T	810/1042	2	2			c.755C>T						11	SNP	c.(754-756)ACA>ATA	32	32			ovary(2)|skin(1)	3	Broad	olfactory receptor, family 51, subfamily B,			5344773		0.393	ENSG00000184881	10899	g.chr11:5344773G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							145.336213	KEEP	24	29	-1	45	50	24	29	-1	147.89032	45	50	0.355072	1	0	0	0	0	1	0	0	0	--	--		0	A			HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	202	GBM-27-2524-TP	p.T252I	G	ACCCATCACTGTAACATAGAA	NM_033180	NP_149420	5344773	Q9Y5P1	O51B2_HUMAN	0		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	810	-	A	A		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	Missense_Mutation	252			Helical; Name=6; (Potential).			
OR51D1	390038	broad.mit.edu	GRCh37	11	4661587	4661587	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-02-0055-01	TCGA-02-0055-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357605.2:c.567C>T	p.His189=	p.H189=	ENST00000357605	NM_001004751.2	189	caC/caT	0			1			T	H	uc010qyk.1	protein_coding	YES	CCDS31357.1			567/975										0	c.(565-567)CAC>CAT			Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF62,Superfamily_domains:SSF81321	olfactory receptor, family 51, subfamily D,				ENSP00000350222		1-Jan									COSM2149034	1-Jan	.		ENST00000357605	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000197428	g.chr11:4661587C>T	15193			LOW								--	--	1																																			1	1			p.H189H	NM_001004751	NP_001004751			1	O51D1_HUMAN	OR51D1	HGNC	Q8NGF3	O51D1_HUMAN		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)			1	567	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	UPI000004B21E	189			Extracellular (Potential).		SNV	OR51D1,synonymous_variant,p.=,ENST00000357605,NM_001004751.2;OR51E1,upstream_gene_variant,,ENST00000396952,NM_152430.3;	uc010qyk.1	c.567C>T	643/1124	2	2			c.567C>T						11	SNP	c.(565-567)CAC>CAT	21	21				0	Broad	olfactory receptor, family 51, subfamily D,			4661587		0.483	ENSG00000197428	10903	g.chr11:4661587C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							133.318056	KEEP	26	32	-1	111	86	26	32	-1	150.1872	111	86	0.224066	1	0	0	0	0	0	0	1	0	--	--		0	T				4	GBM-02-0055-TP	p.H189H	C	CTGTCACACACTCCTTCTGTC	NM_001004751	NP_001004751	4661587	Q8NGF3	O51D1_HUMAN	0		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	567	+	T	T		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	Silent	189			Extracellular (Potential).			
OR51D1	390038	broad.mit.edu	GRCh37	11	4661423	4661423	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01	TCGA-06-0219-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357605.2:c.403C>T	p.Arg135Cys	p.R135C	ENST00000357605	NM_001004751.2	135	Cgc/Tgc	0	T:0.0002		1			T	R/C	uc010qyk.1	protein_coding	YES	CCDS31357.1			403/975										0	c.(403-405)CGC>TGC			Gene3D:1.20.1070.10,Pfam_domain:PF10320,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF62,Superfamily_domains:SSF81321	olfactory receptor, family 51, subfamily D,			T:0	ENSP00000350222		1-Jan	3.29E-05	0.000192	8.64E-05	0.000116					rs374266379,COSM2150978	1-Jan	.		ENST00000357605	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000197428	g.chr11:4661423C>T	15193			MODERATE		3.3	medium	getma.org/?cm=msa&ty=f&p=O51D1_HUMAN&rb=1&re=152&var=R135C	getma.org/pdb.php?prot=O51D1_HUMAN&from=1&to=152&var=R135C	getma.org/?cm=var&var=hg19,11,4661423,C,T&fts=all	R135C	--	--	1																																			0,1	1		probably_damaging(1)	p.R135C	NM_001004751	NP_001004751		deleterious(0)	0,1	O51D1_HUMAN	OR51D1	HGNC	Q8NGF3	O51D1_HUMAN		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)			1	403	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	UPI000004B21E	135			Cytoplasmic (Potential).		SNV	OR51D1,missense_variant,p.Arg135Cys,ENST00000357605,NM_001004751.2;OR51E1,upstream_gene_variant,,ENST00000396952,NM_152430.3;	uc010qyk.1	c.403C>T	479/1124	1	1			c.403C>T						11	SNP	c.(403-405)CGC>TGC	15	15				0	Broad	olfactory receptor, family 51, subfamily D,			4661423		0.542	ENSG00000197428	10903	g.chr11:4661423C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							111.760477	KEEP	25	20	-1	60	64	25	20	-1	120.650046	60	64	0.251572	1	0	0	0	0	1	0	0	0	--	--		0	T				52	GBM-06-0219-TP	p.R135C	C	GGCTTTTGACCGCTTTGTGGC	NM_001004751	NP_001004751	4661423	Q8NGF3	O51D1_HUMAN	0		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	403	+	T	T		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	Missense_Mutation	135			Cytoplasmic (Potential).			
OR51E1	0	broad.mit.edu	GRCh37	11	4673967	4673967	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-28-5216-01	TCGA-28-5216-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396952.5:c.211G>C	p.Gly71Arg	p.G71R	ENST00000396952	NM_152430.3	71	Ggc/Cgc	0			1			C	G/R	uc001lzi.3	protein_coding	YES	CCDS31358.2			211/957									large_intestine(3)|pancreas(1)	4	c.(211-213)GGC>CGC			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF34,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 51, subfamily E,				ENSP00000380155		2-Feb									COSM3397707	2-Feb	.		ENST00000396952	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000180785	g.chr11:4673967G>C	15194			MODERATE		2.12	medium	getma.org/?cm=msa&ty=f&p=O51E1_HUMAN&rb=43&re=293&var=G70R	getma.org/pdb.php?prot=O51E1_HUMAN&from=43&to=293&var=G70R	getma.org/?cm=var&var=hg19,11,4673967,G,C&fts=all	G70R	--	--	1																																			1	1		benign(0.419)	p.G71R	NM_152430	NP_689643		deleterious(0.03)	1	O51E1_HUMAN	OR51E1	HGNC	Q8TCB6	O51E1_HUMAN		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)			2	355	+		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	UPI000003ACE2	70			Helical; Name=2; (Potential).		SNV	OR51E1,missense_variant,p.Gly71Arg,ENST00000396952,NM_152430.3;OR51E1,intron_variant,,ENST00000530215,;	uc001lzi.3	c.211G>C	861/3612	3	3			c.211G>C						11	SNP	c.(211-213)GGC>CGC	13	13			large_intestine(3)|pancreas(1)	4	Broad	olfactory receptor, family 51, subfamily E,			4673967		0.453	ENSG00000180785	10904	g.chr11:4673967G>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							123.080189	KEEP	22	20	-1	41	32	22	20	-1	124.383305	41	32	0.380952	1	0	0	0	0	1	0	0	0	--	--		0	C				223	GBM-28-5216-TP	p.G71R	G	CATGCTTTCAGGCATTGACAT	NM_152430	NP_689643	4673967	Q8TCB6	O51E1_HUMAN	0		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	355	+	C	C		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	Missense_Mutation	70			Helical; Name=2; (Potential).			
OR51E2	81285	broad.mit.edu	GRCh37	11	4703067	4703067	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0173-01	TCGA-06-0173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396950.3:c.875G>C	p.Gly292Ala	p.G292A	ENST00000396950	NM_030774.3	292	gGt/gCt	0			1			G	G/A	uc001lzk.2	protein_coding	YES	CCDS7751.1			875/963									lung(3)|ovary(2)	5	c.(874-876)GGT>GCT			Gene3D:1.20.1070.10,Prints_domain:PR00237,Prints_domain:PR00245,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF99,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 51, subfamily E,				ENSP00000380153		2-Feb									COSM2150376	2-Feb	.		ENST00000396950	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000167332	g.chr11:4703067C>G	15195			MODERATE		1.375	low	getma.org/?cm=msa&ty=f&p=O51E2_HUMAN&rb=285&re=320&var=G292A	NA	getma.org/?cm=var&var=hg19,11,4703067,C,G&fts=all	G292A	--	--	1																																			1	1		benign(0.009)	p.G292A	NM_030774	NP_110401		deleterious(0.03)	1	O51E2_HUMAN	OR51E2	HGNC	Q9H255	O51E2_HUMAN		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)	E9PPJ8_HUMAN		2	1119	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	UPI000003B49B	292			Helical; Name=7; (Potential).		SNV	OR51E2,missense_variant,p.Gly292Ala,ENST00000396950,NM_030774.3;OR51E2,downstream_gene_variant,,ENST00000532598,;	uc001lzk.2	c.875G>C	1115/2781	3	3			c.875G>C						11	SNP	c.(874-876)GGT>GCT	2	2			lung(3)|ovary(2)	5	Broad	olfactory receptor, family 51, subfamily E,			4703067		0.507	ENSG00000167332	10905	g.chr11:4703067C>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							109.46815	KEEP	23	15	-1	33	39	23	15	-1	112.083033	33	39	0.326531	1	0	0	0	0	1	0	0	0	--	--		0	G				36	GBM-06-0173-TP	p.G292A	C	GGTTTTGGCACCATAGATGAT	NM_030774	NP_110401	4703067	Q9H255	O51E2_HUMAN	0		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)	2	1119	-	G	G		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	Missense_Mutation	292			Helical; Name=7; (Potential).			
OR51F1	0	broad.mit.edu	GRCh37	11	4790374	4790374	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6698-01	TCGA-06-6698-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380383.1:c.795G>A	p.Leu265=	p.L265=	ENST00000380383		265	ctG/ctA	0			1			T	L	uc010qyl.1	protein_coding					795/960									ovary(1)|skin(1)	2	c.(772-774)CTG>CTA			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF186,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 51, subfamily F,				ENSP00000369744		1-Jan									COSM3397725,COSM3397726	1-Jan	.		ENST00000380383	Transcript				integral to membrane	olfactory receptor activity	ENSG00000188069	g.chr11:4790374C>T	15196			LOW								--	--	1																																			1,1				p.L258L	NM_001004752	NP_001004752			1,1	O51F1_HUMAN	OR51F1	HGNC	A6NLW9	A6NLW9_HUMAN		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	A6NLW9_HUMAN		1	774	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	UPI000066D8E8	258					SNV	OR51F1,synonymous_variant,p.=,ENST00000380383,;OR51F1,synonymous_variant,p.=,ENST00000343430,NM_001004752.1;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	uc010qyl.1	c.774G>A	795/960	2	2			c.774G>A						11	SNP	c.(772-774)CTG>CTA	42	42			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 51, subfamily F,			4790374		0.522	ENSG00000188069	10906	g.chr11:4790374C>T		integral to membrane	olfactory receptor activity							9.287295	KEEP	4	5	-1	19	27	4	5	-1	16.021574	19	27	0.134615	1	0	0	0	0	0	0	1	0	--	--		0	T				112	GBM-06-6698-TP	p.L258L	C	AGGACAGGCTCAGCATGTGGA	NM_001004752	NP_001004752	4790374	A6NLW9	A6NLW9_HUMAN	0		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	774	-	T	T		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	Silent	258						
OR51F1	0	broad.mit.edu	GRCh37	11	4790709	4790709	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-12-0692-01	TCGA-12-0692-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380383.1:c.460G>T	p.Gly154Cys	p.G154C	ENST00000380383		154	Ggt/Tgt	0			1			A	G/C	uc010qyl.1	protein_coding					460/960									ovary(1)|skin(1)	2	c.(439-441)GGT>TGT			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF186,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 51, subfamily F,				ENSP00000369744		1-Jan									COSM3397727,COSM3397728	1-Jan	.		ENST00000380383	Transcript				integral to membrane	olfactory receptor activity	ENSG00000188069	g.chr11:4790709C>A	15196			MODERATE		3.12	medium	getma.org/?cm=msa&ty=f&p=O51F1_HUMAN&rb=149&re=294&var=G154C	NA	getma.org/?cm=var&var=hg19,11,4790709,C,A&fts=all	G154C	--	--	1																																			1,1			possibly_damaging(0.654)	p.G147C	NM_001004752	NP_001004752		deleterious(0.01)	1,1	O51F1_HUMAN	OR51F1	HGNC	A6NLW9	A6NLW9_HUMAN		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	A6NLW9_HUMAN		1	439	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	UPI000066D8E8	147					SNV	OR51F1,missense_variant,p.Gly154Cys,ENST00000380383,;OR51F1,missense_variant,p.Gly147Cys,ENST00000343430,NM_001004752.1;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	uc010qyl.1	c.439G>T	460/960	1	1			c.439G>T						11	SNP	c.(439-441)GGT>TGT	64	64			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 51, subfamily F,			4790709		0.433	ENSG00000188069	10906	g.chr11:4790709C>A		integral to membrane	olfactory receptor activity							19.002399	KEEP	11	3	0.214285714	44	48	11	3	0.214285714	32.087437	44	48	0.131313	1	0	0	0	0	1	0	0	0	--	--		0	A				122	GBM-12-0692-TP	p.G147C	C	ATCAGAAGACCCATTTGAATG	NM_001004752	NP_001004752	4790709	A6NLW9	A6NLW9_HUMAN	0		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	439	-	A	A		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	Missense_Mutation	147						
OR51G1	0	broad.mit.edu	GRCh37	11	4945317	4945317	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321961.2:c.253G>A	p.Gly85Ser	p.G85S	ENST00000321961	NM_001005237.1	85	Ggc/Agc	0			1			T	G/S	uc010qyr.1	protein_coding	YES	CCDS31366.1			253/966									ovary(1)|skin(1)	2	c.(253-255)GGC>AGC			Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF140,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 51, subfamily G,				ENSP00000322546		1-Jan									COSM3397747	1-Jan	.		ENST00000321961	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000176879	g.chr11:4945317C>T	14738			MODERATE		0.705	neutral	getma.org/?cm=msa&ty=f&p=O51G1_HUMAN&rb=1&re=141&var=G85S	getma.org/pdb.php?prot=O51G1_HUMAN&from=1&to=141&var=G85S	getma.org/?cm=var&var=hg19,11,4945317,C,T&fts=all	G85S	--	--	1																																			1	1		benign(0.119)	p.G85S	NM_001005237	NP_001005237		tolerated(0.16)	1	O51G1_HUMAN	OR51G1	HGNC	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)			1	253	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	UPI0000041B56	85			Extracellular (Potential).		SNV	OR51G1,missense_variant,p.Gly85Ser,ENST00000321961,NM_001005237.1;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	uc010qyr.1	c.253G>A	321/1107	2	2			c.253G>A						11	SNP	c.(253-255)GGC>AGC	32	32			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 51, subfamily G,			4945317		0.483	ENSG00000176879	10908	g.chr11:4945317C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							102.319168	KEEP	14	22	-1	30	42	14	22	-1	104.463286	30	42	0.343434	1	0	0	0	0	1	0	0	0	--	--		0	T				129	GBM-12-5295-TP	p.G85S	C	CAGAAAATGCCCAGCACAGTG	NM_001005237	NP_001005237	4945317	Q8NGK1	O51G1_HUMAN	0		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	253	-	T	T		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	Missense_Mutation	85			Extracellular (Potential).			
OR51G1	0	broad.mit.edu	GRCh37	11	4944755	4944755	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs146006146	by1000genomes	TCGA-14-1395-01	TCGA-14-1395-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321961.2:c.815G>A	p.Arg272His	p.R272H	ENST00000321961	NM_001005237.1	272	cGc/cAc	0	T:0.0002	T:0	1	T:0		T	R/H	uc010qyr.1	protein_coding	YES	CCDS31366.1			815/966									ovary(1)|skin(1)	2	c.(814-816)CGC>CAC			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF140,Superfamily_domains:SSF81321	olfactory receptor, family 51, subfamily G,		T:0.0129	T:0	ENSP00000322546	T:0	1-Jan	0.0012	9.61E-05		0.0163		1.50E-05	0.00111	0.000121	rs146006146,COSM3397746	1-Jan	common_variant		ENST00000321961	Transcript		T:0.0028	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000176879	g.chr11:4944755C>T	14738			MODERATE		-0.415	neutral	getma.org/?cm=msa&ty=f&p=O51G1_HUMAN&rb=142&re=287&var=R272H	NA	getma.org/?cm=var&var=hg19,11,4944755,C,T&fts=all	R272H	--	--	1																																			0,1	1		benign(0.005)	p.R272H	NM_001005237	NP_001005237	T:0.001	tolerated(0.4)	0,1	O51G1_HUMAN	OR51G1	HGNC	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)			1	815	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	UPI0000041B56	272			Extracellular (Potential).		SNV	OR51G1,missense_variant,p.Arg272His,ENST00000321961,NM_001005237.1;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	uc010qyr.1	c.815G>A	883/1107	2	2			c.815G>A						11	SNP	c.(814-816)CGC>CAC	36	36			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 51, subfamily G,			4944755		0.502	ENSG00000176879	10908	g.chr11:4944755C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							127.217313	KEEP	26	24	-1	36	36	26	24	-1	127.79799	36	36	0.422018	1	0	0	0	0	1	0	0	0	--	--		0	T				144	GBM-14-1395-TP	p.R272H	C	GTGTACAACGCGGGGCAGATG	NM_001005237	NP_001005237	4944755	Q8NGK1	O51G1_HUMAN	0		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	815	-	T	T		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	Missense_Mutation	272			Extracellular (Potential).			
OR51G1	79324		GRCh37	11	4945520	4945520	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000321961.2:c.50C>T	p.Thr17Met	p.T17M	ENST00000321961	NM_001005237.1	17	aCg/aTg	0																																																																																																																																																																																																																																												
OR51G1	79324		GRCh37	11	4944754	4944754	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000321961.2:c.816C>T	p.Arg272=	p.R272=	ENST00000321961	NM_001005237.1	272	cgC/cgT	0																																																																																																																																																																																																																																												
OR51L1	119682	broad.mit.edu	GRCh37	11	5020398	5020398	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0169-01	TCGA-06-0169-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321543.1:c.186T>C	p.Tyr62=	p.Y62=	ENST00000321543	NM_001004755.1	62	taT/taC	0			1			C	Y	uc010qyu.1	protein_coding	YES	CCDS31369.1			186/948									skin(1)	1	c.(184-186)TAT>TAC			Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26450:SF37,hmmpanther:PTHR26450,PROSITE_profiles:PS50262	olfactory receptor, family 51, subfamily L,				ENSP00000322156		1-Jan									COSM3397756	1-Jan	.		ENST00000321543	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000176798	g.chr11:5020398T>C	14759			LOW								--	--	1																																			1	1			p.Y62Y	NM_001004755	NP_001004755			1	O51L1_HUMAN	OR51L1	HGNC	Q8NGJ5	O51L1_HUMAN		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)			1	186	+		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	UPI0000041B76	62			Helical; Name=2; (Potential).		SNV	OR51L1,synonymous_variant,p.=,ENST00000321543,NM_001004755.1;	uc010qyu.1	c.186T>C	186/948	4	4			c.186T>C						11	SNP	c.(184-186)TAT>TAC	47	47			skin(1)	1	Broad	olfactory receptor, family 51, subfamily L,			5020398		0.448	ENSG00000176798	10912	g.chr11:5020398T>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							33.112843	KEEP	17	18	-1	160	150	17	18	-1	82.855351	160	150	0.09772	1	0	0	0	0	0	0	1	0	--	--		0	C				34	GBM-06-0169-TP	p.Y62Y	T	AGCCCATGTATTACTTTATTT	NM_001004755	NP_001004755	5020398	Q8NGJ5	O51L1_HUMAN	0		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	186	+	C	C		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	Silent	62			Helical; Name=2; (Potential).			
OR51L1	0	broad.mit.edu	GRCh37	11	5020755	5020755	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-32-2634-01	TCGA-32-2634-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321543.1:c.543T>C	p.Cys181=	p.C181=	ENST00000321543	NM_001004755.1	181	tgT/tgC	0			1			C	C	uc010qyu.1	protein_coding	YES	CCDS31369.1			543/948									skin(1)	1	c.(541-543)TGT>TGC			Prints_domain:PR00245,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26450:SF37,hmmpanther:PTHR26450,PROSITE_profiles:PS50262	olfactory receptor, family 51, subfamily L,				ENSP00000322156		1-Jan									COSM3397757	1-Jan	.		ENST00000321543	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000176798	g.chr11:5020755T>C	14759			LOW								--	--	1																																			1	1			p.C181C	NM_001004755	NP_001004755			1	O51L1_HUMAN	OR51L1	HGNC	Q8NGJ5	O51L1_HUMAN		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)			1	543	+		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	UPI0000041B76	181			Extracellular (Potential).		SNV	OR51L1,synonymous_variant,p.=,ENST00000321543,NM_001004755.1;	uc010qyu.1	c.543T>C	543/948	4	4			c.543T>C						11	SNP	c.(541-543)TGT>TGC	34	34			skin(1)	1	Broad	olfactory receptor, family 51, subfamily L,			5020755		0.473	ENSG00000176798	10912	g.chr11:5020755T>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							247.549606	KEEP	46	32	-1	85	55	46	32	-1	251.324567	85	55	0.35468	1	0	0	0	0	0	0	1	0	--	--		0	C				241	GBM-32-2634-TP	p.C181C	T	ACGCCTTCTGTTTGCACCAGG	NM_001004755	NP_001004755	5020755	Q8NGJ5	O51L1_HUMAN	0		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	543	+	C	C		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	Silent	181			Extracellular (Potential).			
OR51M1	390059	broad.mit.edu	GRCh37	11	5411176	5411176	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-2563-01	TCGA-06-2563-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328611.3:c.548C>G	p.Ser183Cys	p.S183C	ENST00000328611	NM_001004756.2	183	tCt/tGt	0			1			G	S/C	uc010qzc.1	protein_coding	YES	CCDS53596.1			548/981										0	c.(547-549)TCT>TGT			PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF44,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 51, subfamily M,				ENSP00000333196		1-Jan									COSM3397769	1-Jan	.		ENST00000328611	Transcript				integral to membrane	olfactory receptor activity	ENSG00000184698	g.chr11:5411176C>G	14847			MODERATE		3.12	medium	getma.org/?cm=msa&ty=f&p=O51M1_HUMAN&rb=141&re=286&var=S172C	NA	getma.org/?cm=var&var=hg19,11,5411176,C,G&fts=all	S172C	--	--	1																																		HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	1	1		benign(0.006)	p.S183C	NM_001004756	NP_001004756		deleterious(0.02)	1	O51M1_HUMAN	OR51M1	HGNC	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)			1	548	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	UPI000066D8EB	183					SNV	OR51M1,missense_variant,p.Ser183Cys,ENST00000328611,NM_001004756.2;HBG2,intron_variant,,ENST00000380259,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000396895,;AC104389.28,intron_variant,,ENST00000415970,;AC104389.28,intron_variant,,ENST00000418729,;AC104389.28,intron_variant,,ENST00000420465,;AC104389.28,intron_variant,,ENST00000420726,;	uc010qzc.1	c.548C>G	570/1058	3	3			c.548C>G						11	SNP	c.(547-549)TCT>TGT	7	7				0	Broad	olfactory receptor, family 51, subfamily M,			5411176		0.517	ENSG00000184698	10913	g.chr11:5411176C>G		integral to membrane	olfactory receptor activity							378.082001	KEEP	74	46	-1	88	81	74	46	-1	379.555805	88	81	0.419847	1	0	0	0	0	1	0	0	0	--	--		0	G			HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	86	GBM-06-2563-TP	p.S183C	C	TACTGTGGATCTGTGGTCCTC	NM_001004756	NP_001004756	5411176	B2RNI9	B2RNI9_HUMAN	0		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	548	+	G	G		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	Missense_Mutation	183						
OR51M1	0	broad.mit.edu	GRCh37	11	5410816	5410816	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-28-5220-01	TCGA-28-5220-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328611.3:c.188C>A	p.Thr63Asn	p.T63N	ENST00000328611	NM_001004756.2	63	aCc/aAc	0			1			A	T/N	uc010qzc.1	protein_coding	YES	CCDS53596.1			188/981										0	c.(187-189)ACC>AAC			PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF44,Pfam_domain:PF10320,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 51, subfamily M,				ENSP00000333196		1-Jan									COSM3397768	1-Jan	.		ENST00000328611	Transcript				integral to membrane	olfactory receptor activity	ENSG00000184698	g.chr11:5410816C>A	14847			MODERATE		2.43	medium	getma.org/?cm=msa&ty=f&p=O51M1_HUMAN&rb=1&re=140&var=T52N	getma.org/pdb.php?prot=O51M1_HUMAN&from=1&to=140&var=T52N	getma.org/?cm=var&var=hg19,11,5410816,C,A&fts=all	T52N	--	--	1																																		HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	1	1		benign(0.312)	p.T63N	NM_001004756	NP_001004756		deleterious(0.03)	1	O51M1_HUMAN	OR51M1	HGNC	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)			1	188	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	UPI000066D8EB	63					SNV	OR51M1,missense_variant,p.Thr63Asn,ENST00000328611,NM_001004756.2;HBG2,intron_variant,,ENST00000380259,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000396895,;AC104389.28,intron_variant,,ENST00000415970,;AC104389.28,intron_variant,,ENST00000418729,;AC104389.28,intron_variant,,ENST00000420465,;AC104389.28,intron_variant,,ENST00000420726,;	uc010qzc.1	c.188C>A	210/1058	2	2			c.188C>A						11	SNP	c.(187-189)ACC>AAC	20	20				0	Broad	olfactory receptor, family 51, subfamily M,			5410816		0.478	ENSG00000184698	10913	g.chr11:5410816C>A		integral to membrane	olfactory receptor activity							-19.651804	KEEP	6	10	0.625	135	114	6	10	0.625	32.028335	135	114	0.059055	1	0	0	0	0	1	0	0	0	--	--		0	A			HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	226	GBM-28-5220-TP	p.T63N	C	ATTATTAAGACCAACCCTCGT	NM_001004756	NP_001004756	5410816	B2RNI9	B2RNI9_HUMAN	0		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	188	+	A	A		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	Missense_Mutation	63						
OR51S1	119692	broad.mit.edu	GRCh37	11	4870156	4870156	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs143553379		TCGA-06-0145-01	TCGA-06-0145-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322101.2:c.283G>A	p.Ala95Thr	p.A95T	ENST00000322101	NM_001004758.1	95	Gct/Act	0	T:0.0005		1			T	A/T	uc010qyo.1	protein_coding	YES	CCDS31362.1			283/972									skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4	c.(283-285)GCT>ACT			PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF73,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	olfactory receptor, family 51, subfamily S,			T:0	ENSP00000322754		1-Jan	4.94E-05	0.000577							rs143553379,COSM2149695	1-Jan	common_variant		ENST00000322101	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000176922	g.chr11:4870156C>T	15204			MODERATE		0.35	neutral	getma.org/?cm=msa&ty=f&p=O51S1_HUMAN&rb=49&re=299&var=A95T	getma.org/pdb.php?prot=O51S1_HUMAN&from=49&to=299&var=A95T	getma.org/?cm=var&var=hg19,11,4870156,C,T&fts=all	A95T	--	--	1																																			0,1	1		benign(0.153)	p.A95T	NM_001004758	NP_001004758		deleterious(0.03)	0,1	O51S1_HUMAN	OR51S1	HGNC	Q8NGJ8	O51S1_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)			1	283	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	UPI0000041C33	95			Extracellular (Potential).		SNV	OR51S1,missense_variant,p.Ala95Thr,ENST00000322101,NM_001004758.1;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	uc010qyo.1	c.283G>A	359/1088	2	2			c.283G>A						11	SNP	c.(283-285)GCT>ACT	33	33			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4	Broad	olfactory receptor, family 51, subfamily S,			4870156		0.537	ENSG00000176922	10915	g.chr11:4870156C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							151.583688	KEEP	26	31	-1	48	41	26	31	-1	152.509553	48	41	0.413043	1	0	0	0	0	1	0	0	0	--	--		0	T				23	GBM-06-0145-TP	p.A95T	C	TGAGCACCAGCAAGGGCGATG	NM_001004758	NP_001004758	4870156	Q8NGJ8	O51S1_HUMAN	0		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	283	-	T	T		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	Missense_Mutation	95			Extracellular (Potential).			
OR51S1	0	broad.mit.edu	GRCh37	11	4870245	4870245	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322101.2:c.194G>A	p.Arg65His	p.R65H	ENST00000322101	NM_001004758.1	65	cGc/cAc	0		T:0	1	T:0		T	R/H	uc010qyo.1	protein_coding	YES	CCDS31362.1			194/972									skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4	c.(193-195)CGC>CAC			PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF73,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	olfactory receptor, family 51, subfamily S,		T:0.001		ENSP00000322754	T:0	1-Jan	2.47E-05			0.000116		3.00E-05			rs560546339,COSM166711	1-Jan	.		ENST00000322101	Transcript		T:0.0002	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000176922	g.chr11:4870245C>T	15204			MODERATE		1.2	low	getma.org/?cm=msa&ty=f&p=O51S1_HUMAN&rb=49&re=299&var=R65H	getma.org/pdb.php?prot=O51S1_HUMAN&from=49&to=299&var=R65H	getma.org/?cm=var&var=hg19,11,4870245,C,T&fts=all	R65H	--	--	1																																			0,1	1		probably_damaging(0.967)	p.R65H	NM_001004758	NP_001004758	T:0	deleterious(0.03)	0,1	O51S1_HUMAN	OR51S1	HGNC	Q8NGJ8	O51S1_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)			1	194	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	UPI0000041C33	65			Helical; Name=2; (Potential).		SNV	OR51S1,missense_variant,p.Arg65His,ENST00000322101,NM_001004758.1;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	uc010qyo.1	c.194G>A	270/1088	2	2			c.194G>A						11	SNP	c.(193-195)CGC>CAC	25	25			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4	Broad	olfactory receptor, family 51, subfamily S,			4870245		0.572	ENSG00000176922	10915	g.chr11:4870245C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							70.055515	KEEP	12	17	-1	28	28	12	17	-1	72.283642	28	28	0.320513	1	0	0	0	0	1	0	0	0	--	--		0	T				159	GBM-19-1390-TP	p.R65H	C	GTGCATTGGGCGGTGCAGGGC	NM_001004758	NP_001004758	4870245	Q8NGJ8	O51S1_HUMAN	0		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	194	-	T	T		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	Missense_Mutation	65			Helical; Name=2; (Potential).			
OR51T1	0	broad.mit.edu	GRCh37	11	4904033	4904033	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2638-01	TCGA-32-2638-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322049.1:c.904C>T	p.Arg302Cys	p.R302C	ENST00000322049		302	Cgc/Tgc	0	T:0		1			T	R/C	uc010qyp.1	protein_coding					904/984									ovary(2)|large_intestine(1)	3	c.(985-987)CGC>TGC			hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF6,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 51, subfamily T,			T:0.0001	ENSP00000322679		1-Jan	6.59E-05		0.000174	0.000116		4.50E-05		0.000121	rs201004265,COSM3397744,COSM3397743	1-Jan	.		ENST00000322049	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000176900	g.chr11:4904033C>T	15205			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=O51T1_HUMAN&rb=295&re=327&var=R302C	NA	getma.org/?cm=var&var=hg19,11,4904033,C,T&fts=all	R302C	--	--	1																																			0,1,1			possibly_damaging(0.855)	p.R329C	NM_001004759	NP_001004759		deleterious(0.02)	0,1,1	O51T1_HUMAN	OR51T1	HGNC	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)			1	985	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	UPI000004B21D	302			Cytoplasmic (Potential).		SNV	OR51T1,missense_variant,p.Arg329Cys,ENST00000380378,NM_001004759.1;OR51T1,missense_variant,p.Arg302Cys,ENST00000322049,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	uc010qyp.1	c.985C>T	904/984	1	1			c.985C>T						11	SNP	c.(985-987)CGC>TGC	1	1			ovary(2)|large_intestine(1)	3	Broad	olfactory receptor, family 51, subfamily T,			4904033		0.488	ENSG00000176900	10916	g.chr11:4904033C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							106.473822	KEEP	20	18	-1	43	32	20	18	-1	109.251194	43	32	0.330275	1	0	0	0	0	1	0	0	0	--	--		0	T				242	GBM-32-2638-TP	p.R329C	C	CAAGACAATCCGCCAGGCTAT	NM_001004759	NP_001004759	4904033	Q8NGJ9	O51T1_HUMAN	0		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	985	+	T	T		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	Missense_Mutation	302			Cytoplasmic (Potential).			
OR51V1	283111		GRCh37	11	5221570	5221570	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000321255.1:c.361T>A	p.Ser121Thr	p.S121T	ENST00000321255	NM_001004760.2	121	Tcc/Acc	0																																																																																																																																																																																																																																												
OR52A1	0	broad.mit.edu	GRCh37	11	5172692	5172692	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01	TCGA-14-3476-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328942.1:c.908G>A	p.Arg303His	p.R303H	ENST00000328942	NM_012375.2	303	cGc/cAc	0	T:0.0002		1			T	R/H	uc010qyy.1	protein_coding		CCDS31374.1			908/939									ovary(1)|breast(1)	2	c.(907-909)CGC>CAC			hmmpanther:PTHR26450:SF98,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 52, subfamily A,			T:0	ENSP00000333684		1-Jan	1.65E-05	9.65E-05						6.63E-05	rs371802271,COSM3397762	1-Jan	.		ENST00000328942	Transcript			sensory perception of smell	integral to plasma membrane	olfactory receptor activity	ENSG00000182070	g.chr11:5172692C>T	8318			MODERATE		2.68	medium	getma.org/?cm=msa&ty=f&p=O52A1_HUMAN&rb=259&re=312&var=R303H	NA	getma.org/?cm=var&var=hg19,11,5172692,C,T&fts=all	R303H	--	--	1																																			0,1			benign(0.028)	p.R303H	NM_012375	NP_036507		deleterious(0.02)	0,1	O52A1_HUMAN	OR52A1	HGNC	Q9UKL2	O52A1_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)			1	908	-		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)	UPI0000140B1E	303			Cytoplasmic (Potential).		SNV	OR52A1,missense_variant,p.Arg303His,ENST00000380367,;OR52A1,missense_variant,p.Arg303His,ENST00000328942,NM_012375.2;	uc010qyy.1	c.908G>A	908/939	1	1			c.908G>A						11	SNP	c.(907-909)CGC>CAC	13	13			ovary(1)|breast(1)	2	Broad	olfactory receptor, family 52, subfamily A,			5172692		0.358	ENSG00000182070	10918	g.chr11:5172692C>T	sensory perception of smell	integral to plasma membrane	olfactory receptor activity							180.57854	KEEP	42	41	-1	136	132	42	41	-1	198.860715	136	132	0.239865	1	0	0	0	0	1	0	0	0	--	--		0	T				151	GBM-14-3476-TP	p.R303H	C	CACATGAATGCGAATCTGTGT	NM_012375	NP_036507	5172692	Q9UKL2	O52A1_HUMAN	0		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	908	-	T	T		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)	Missense_Mutation	303			Cytoplasmic (Potential).			
OR52A4	0	broad.mit.edu	GRCh37	11	5142008	5142008	+	downstream_gene_variant	3'Flank	SNP	C	C	T			TCGA-19-5958-01	TCGA-19-5958-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.				ENST00000498233				0		T:0.0008	1	T:0		T		uc001lzz.1	processed_transcript	YES													ovary(2)	2	c.(799-801)TCG>TCA	377			olfactory receptor, family 52, subfamily A,		T:0			T:0		1.65E-05	0.000198							rs532765750,COSM2156835		.		ENST00000498233	Transcript		T:0.0002				ENSG00000205494	g.chr11:5142008C>T	19579			MODIFIER								--	--	1																																			0,1	1			p.S267S	NM_001005222	NP_001005222	T:0		0,1		OR52A4	HGNC				Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)			1	801	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)							SNV	OR52A4,downstream_gene_variant,,ENST00000498233,;OR52A4,downstream_gene_variant,,ENST00000481634,;OR52A4,non_coding_transcript_exon_variant,,ENST00000380369,;OR52A4,non_coding_transcript_exon_variant,,ENST00000472867,;	uc001lzz.1	c.801G>A	-/1014	2	2			c.801G>A						11	SNP	c.(799-801)TCG>TCA	34	34			ovary(2)	2	Broad	olfactory receptor, family 52, subfamily A,			5142008		0.368	ENSG00000205494	10919	g.chr11:5142008C>T										71.488287	KEEP	14	18	-1	30	52	14	18	-1	75.77243	30	52	0.278351	1	0	0	0	0	0	0	1	0	--	--		0	T				176	GBM-19-5958-TP	p.S267S	C	TCCAAATCTGCGAGTAAAAAA	NM_001005222	NP_001005222	5142008			0		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	801	-	T	T		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)	Silent							
OR52B2	0	broad.mit.edu	GRCh37	11	6190634	6190634	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs147668114	by1000genomes	TCGA-27-2523-01	TCGA-27-2523-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000530810.1:c.923G>A	p.Arg308Gln	p.R308Q	ENST00000530810	NM_001004052.1	308	cGg/cAg	0	A:0.0039	A:0.0068	1	A:0		T	R/Q	uc010qzy.1	protein_coding	YES	CCDS53598.1			923/972										0	c.(922-924)CGG>CAG			Superfamily_domains:SSF81321,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF75	olfactory receptor, family 52, subfamily B,		A:0	A:0	ENSP00000432011	A:0	1-Jan	4.14E-05		8.72E-05			4.51E-05		6.06E-05	rs147668114,COSM302818,COSM302819	1-Jan	.		ENST00000530810	Transcript		A:0.0018	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000255307	g.chr11:6190634C>T	15207			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=O52B2_HUMAN&rb=288&re=323&var=R308Q	NA	getma.org/?cm=var&var=hg19,11,6190634,C,T&fts=all	R308Q	--	--	1																																			0,1,1	1		benign(0.001)	p.R308Q	NM_001004052	NP_001004052	A:0	deleterious(0.04)	0,1,1	O52B2_HUMAN	OR52B2	HGNC	Q96RD2	O52B2_HUMAN		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)			1	923	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	UPI000004B212	308			Cytoplasmic (Potential).		SNV	OR52B2,missense_variant,p.Arg308Gln,ENST00000530810,NM_001004052.1;RP11-290F24.3,intron_variant,,ENST00000529961,;	uc010qzy.1	c.923G>A	1005/1079	2	2			c.923G>A						11	SNP	c.(922-924)CGG>CAG	17	17				0	Broad	olfactory receptor, family 52, subfamily B,			6190634		0.478	ENSG00000255307	10921	g.chr11:6190634C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	NSCLC(5;186 261 1778 7098 14207)			NSCLC(5;186 261 1778 7098 14207)			114.930213	KEEP	16	26	-1	33	31	16	26	-1	115.841639	33	31	0.395833	1	0	0	0	0	1	0	0	0	--	--		0	T				201	GBM-27-2523-TP	p.R308Q	C	GTCAAAGAACCGGTGGGCTAC	NM_001004052	NP_001004052	6190634	Q96RD2	O52B2_HUMAN	0		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	923	-	T	T		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	Missense_Mutation	308			Cytoplasmic (Potential).			
OR52B4	0	broad.mit.edu	GRCh37	11	4389252	4389252	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6282-01	TCGA-76-6282-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408920.2:c.274G>A	p.Gly92Arg	p.G92R	ENST00000408920	NM_001005161.3	92	Ggg/Agg	0			1			T	G/R	uc010qye.1	protein_coding	YES	CCDS41609.1			274/945										0	c.(274-276)GGG>AGG			Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF89,Superfamily_domains:SSF81321	olfactory receptor, family 52, subfamily B,				ENSP00000386160		1-Jan									COSM3397679	1-Jan	.		ENST00000408920	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000221996	g.chr11:4389252C>T	15209			MODERATE		-0.33	neutral	getma.org/?cm=msa&ty=f&p=O52B4_HUMAN&rb=1&re=144&var=G92R	getma.org/pdb.php?prot=O52B4_HUMAN&from=1&to=144&var=G92R	getma.org/?cm=var&var=hg19,11,4389252,C,T&fts=all	G92R	--	--	1																																			1	1		benign(0.033)	p.G92R	NM_001005161	NP_001005161		tolerated(0.54)	1	O52B4_HUMAN	OR52B4	HGNC	Q8NGK2	O52B4_HUMAN		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)			1	274	-		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)	UPI000013F0A2	92			Extracellular (Potential).		SNV	OR52B4,missense_variant,p.Gly92Arg,ENST00000408920,NM_001005161.3;	uc010qye.1	c.274G>A	365/1124	1	1			c.274G>A						11	SNP	c.(274-276)GGG>AGG	4	4				0	Broad	olfactory receptor, family 52, subfamily B,			4389252		0.527	ENSG00000221996	10922	g.chr11:4389252C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							14.567432	KEEP	5	3	-1	22	18	5	3	-1	19.406705	22	18	0.170213	1	0	0	0	0	1	0	0	0	--	--		0	T				278	GBM-76-6282-TP	p.G92R	C	GAGATGTCCCCAGCACGGAAC	NM_001005161	NP_001005161	4389252	Q8NGK2	O52B4_HUMAN	0		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	274	-	T	T		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)	Missense_Mutation	92			Extracellular (Potential).			
OR52B6	0	broad.mit.edu	GRCh37	11	5602633	5602633	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-19-5951-01	TCGA-19-5951-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345043.2:c.527T>A	p.Phe176Tyr	p.F176Y	ENST00000345043	NM_001005162.2	176	tTt/tAt	0			1			A	F/Y	uc010qzi.1	protein_coding	YES	CCDS41611.1			527/1008									ovary(1)	1	c.(526-528)TTT>TAT			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF32,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 52, subfamily B,				ENSP00000341581		1-Jan									COSM2156608	1-Jan	.		ENST00000345043	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000187747	g.chr11:5602633T>A	15211			MODERATE		3.405	medium	getma.org/?cm=msa&ty=f&p=O52B6_HUMAN&rb=150&re=305&var=F176Y	NA	getma.org/?cm=var&var=hg19,11,5602633,T,A&fts=all	F176Y	--	--	1																																		HBG2_uc001mak.1_Intron	1	1		possibly_damaging(0.581)	p.F176Y	NM_001005162	NP_001005162		deleterious(0.01)	1	O52B6_HUMAN	OR52B6	HGNC	Q8NGF0	O52B6_HUMAN		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)			1	527	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	UPI0000140EA9	176			Helical; Name=4; (Potential).		SNV	OR52B6,missense_variant,p.Phe176Tyr,ENST00000345043,NM_001005162.2;HBG2,intron_variant,,ENST00000380259,;AC015691.13,intron_variant,,ENST00000394793,;	uc010qzi.1	c.527T>A	527/1008	1	1			c.527T>A						11	SNP	c.(526-528)TTT>TAT	56	56			ovary(1)	1	Broad	olfactory receptor, family 52, subfamily B,			5602633		0.498	ENSG00000187747	10923	g.chr11:5602633T>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							299.013972	KEEP	50	60	-1	74	66	50	60	-1	299.521318	74	66	0.449339	1	0	0	0	0	1	0	0	0	--	--		0	A			HBG2_uc001mak.1_Intron	171	GBM-19-5951-TP	p.F176Y	T	ATCATTATGTTTCCATCCATC	NM_001005162	NP_001005162	5602633	Q8NGF0	O52B6_HUMAN	0		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	527	+	A	A		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	Missense_Mutation	176			Helical; Name=4; (Potential).			
OR52D1	0	broad.mit.edu	GRCh37	11	5510785	5510785	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-27-2524-01	TCGA-27-2524-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322641.5:c.849C>G	p.Leu283=	p.L283=	ENST00000322641	NM_001005163.2	283	ctC/ctG	0			1			G	L	uc010qzg.1	protein_coding	YES	CCDS31384.1			849/957									central_nervous_system(1)	1	c.(847-849)CTC>CTG			Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF127,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 52, subfamily D,				ENSP00000326232		1-Jan									COSM3397771	1-Jan	.		ENST00000322641	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000181609	g.chr11:5510785C>G	15212			LOW								--	--	1																																		HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	1	1			p.L283L	NM_001005163	NP_001005163			1	O52D1_HUMAN	OR52D1	HGNC	Q9H346	O52D1_HUMAN		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)			1	849	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	UPI0000041DD3	283			Helical; Name=7; (Potential).		SNV	OR52D1,synonymous_variant,p.=,ENST00000322641,NM_001005163.2;HBG2,intron_variant,,ENST00000380259,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000396895,;AC104389.28,intron_variant,,ENST00000415970,;AC104389.28,intron_variant,,ENST00000418729,;AC104389.28,intron_variant,,ENST00000420465,;AC104389.28,intron_variant,,ENST00000420726,;	uc010qzg.1	c.849C>G	871/1065	3	3			c.849C>G						11	SNP	c.(847-849)CTC>CTG	56	56			central_nervous_system(1)	1	Broad	olfactory receptor, family 52, subfamily D,			5510785		0.493	ENSG00000181609	10924	g.chr11:5510785C>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							140.883731	KEEP	17	25	-1	31	27	17	25	-1	141.534139	31	27	0.412371	1	0	0	0	0	0	0	1	0	--	--		0	G			HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	202	GBM-27-2524-TP	p.L283L	C	TGGCTAATCTCTATGTGCTGG	NM_001005163	NP_001005163	5510785	Q9H346	O52D1_HUMAN	0		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	849	+	G	G		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	Silent	283			Helical; Name=7; (Potential).			
OR52E2	119678	broad.mit.edu	GRCh37	11	5080295	5080295	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-1804-01	TCGA-06-1804-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321522.2:c.563A>G	p.His188Arg	p.H188R	ENST00000321522	NM_001005164.2	188	cAt/cGt	0			1			C	H/R	uc010qyw.1	protein_coding	YES	CCDS31371.1			563/978									ovary(2)|skin(1)	3	c.(562-564)CAT>CGT			Prints_domain:PR00245,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF118,PROSITE_profiles:PS50262	olfactory receptor, family 52, subfamily E,				ENSP00000322088		1-Jan									COSM2152469	1-Jan	.		ENST00000321522	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000176787	g.chr11:5080295T>C	14769			MODERATE		-2.33	neutral	getma.org/?cm=msa&ty=f&p=O52E2_HUMAN&rb=141&re=286&var=H188R	NA	getma.org/?cm=var&var=hg19,11,5080295,T,C&fts=all	H188R	--	--	1																																			1	1		benign(0)	p.H188R	NM_001005164	NP_001005164		tolerated(1)	1	O52E2_HUMAN	OR52E2	HGNC	Q8NGJ4	O52E2_HUMAN		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)			1	563	-		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	UPI0000046AE3	188			Extracellular (Potential).		SNV	OR52E2,missense_variant,p.His188Arg,ENST00000321522,NM_001005164.2;	uc010qyw.1	c.563A>G	563/978	4	4			c.563A>G						11	SNP	c.(562-564)CAT>CGT	37	37			ovary(2)|skin(1)	3	Broad	olfactory receptor, family 52, subfamily E,			5080295		0.388	ENSG00000176787	10925	g.chr11:5080295T>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							25.963299	KEEP	4	6	-1	11	11	4	6	-1	27.035439	11	11	0.3	1	0	0	0	0	1	0	0	0	--	--		0	C				79	GBM-06-1804-TP	p.H188R	T	ACAAGATAGATGAGCAAGACC	NM_001005164	NP_001005164	5080295	Q8NGJ4	O52E2_HUMAN	0		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	563	-	C	C		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	Missense_Mutation	188			Extracellular (Potential).			
OR52E2	119678		GRCh37	11	5080175	5080175	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000321522.2:c.683G>A	p.Arg228His	p.R228H	ENST00000321522	NM_001005164.2	228	cGt/cAt	0																																																																																																																																																																																																																																												
OR52E4	0	broad.mit.edu	GRCh37	11	5906308	5906308	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-76-6192-01	TCGA-76-6192-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316987.2:c.786A>T	p.Thr262=	p.T262=	ENST00000316987	NM_001005165.1	262	acA/acT	0			1			T	T	uc010qzs.1	protein_coding	YES	CCDS31401.1			786/939									ovary(2)	2	c.(784-786)ACA>ACT			PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF13,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	olfactory receptor, family 52, subfamily E,				ENSP00000321426		1-Jan									COSM3397913	1-Jan	.		ENST00000316987	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000180974	g.chr11:5906308A>T	15213			LOW								--	--	1																																		TRIM5_uc001mbq.1_Intron	1	1			p.T262T	NM_001005165	NP_001005165			1	O52E4_HUMAN	OR52E4	HGNC	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)			1	786	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	UPI0000041BE2	262			Extracellular (Potential).		SNV	OR52E4,synonymous_variant,p.=,ENST00000316987,NM_001005165.1;TRIM5,intron_variant,,ENST00000412903,;	uc010qzs.1	c.786A>T	808/1027	2	2			c.786A>T						11	SNP	c.(784-786)ACA>ACT	39	39			ovary(2)	2	Broad	olfactory receptor, family 52, subfamily E,			5906308		0.423	ENSG00000180974	10926	g.chr11:5906308A>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							77.121155	KEEP	14	19	-1	50	69	14	19	-1	86.966605	50	69	0.225352	1	0	0	0	0	0	0	1	0	--	--		0	T			TRIM5_uc001mbq.1_Intron	275	GBM-76-6192-TP	p.T262T	A	CTTTTATGACACATCGTTTTG	NM_001005165	NP_001005165	5906308	Q8NGH9	O52E4_HUMAN	0		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	786	+	T	T		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	Silent	262			Extracellular (Potential).			
OR52E4	390081		GRCh37	11	5906315	5906315	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000316987.2:c.793T>A	p.Phe265Ile	p.F265I	ENST00000316987	NM_001005165.1	265	Ttt/Att	0																																																																																																																																																																																																																																												
OR52E6	390078		GRCh37	11	5862576	5862576	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000329322.5:c.552G>A	p.Met184Ile	p.M184I	ENST00000329322	NM_001005167.1	184	atG/atA	0																																																																																																																																																																																																																																												
OR52E8	0	broad.mit.edu	GRCh37	11	5878741	5878741	+	synonymous_variant	Silent	SNP	A	A	G	rs147064631		TCGA-76-4934-01	TCGA-76-4934-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000537935.1:c.192T>C	p.Pro64=	p.P64=	ENST00000537935	NM_001005168.1	64	ccT/ccC	0			1			G	P	uc010qzr.1	protein_coding	YES	CCDS31400.1			192/954									skin(2)	2	c.(190-192)CCT>CCC			Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26450:SF108,hmmpanther:PTHR26450,PROSITE_profiles:PS50262	olfactory receptor, family 52, subfamily E,				ENSP00000444054		1-Jan	0.000116	0.0012					0.0011	6.06E-05	rs763343617,COSM3397907	1-Jan	common_variant		ENST00000537935	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000183269	g.chr11:5878741A>G	15217			LOW								--	--	1																																		TRIM5_uc001mbq.1_Intron	0,1	1			p.P64P	NM_001005168	NP_001005168			0,1	O52E8_HUMAN	OR52E8	HGNC	Q6IFG1	O52E8_HUMAN		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)			1	192	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)	UPI000004B211	64			Helical; Name=2; (Potential).		SNV	OR52E8,synonymous_variant,p.=,ENST00000537935,NM_001005168.1;TRIM5,intron_variant,,ENST00000380027,;TRIM5,intron_variant,,ENST00000412903,;	uc010qzr.1	c.192T>C	224/1061	3	3			c.192T>C						11	SNP	c.(190-192)CCT>CCC	55	55			skin(2)	2	Broad	olfactory receptor, family 52, subfamily E,			5878741		0.458	ENSG00000183269	10928	g.chr11:5878741A>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-45.780905	KEEP	3	3	-1	101	122	3	3	-1	8.231506	101	122	0.019231	1	0	0	0	0	0	0	1	0	--	--		0	G			TRIM5_uc001mbq.1_Intron	272	GBM-76-4934-TP	p.P64P	A	AGTAGTACATAGGCTCATGGA	NM_001005168	NP_001005168	5878741	Q6IFG1	O52E8_HUMAN	0		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	192	-	G	G		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)	Silent	64			Helical; Name=2; (Potential).			
OR52E8	0	broad.mit.edu	GRCh37	11	5878765	5878765	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4934-01	TCGA-76-4934-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000537935.1:c.168G>A	p.Gln56=	p.Q56=	ENST00000537935	NM_001005168.1	56	caG/caA	0			1			T	Q	uc010qzr.1	protein_coding	YES	CCDS31400.1			168/954									skin(2)	2	c.(166-168)CAG>CAA			Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26450:SF108,hmmpanther:PTHR26450,PROSITE_profiles:PS50262	olfactory receptor, family 52, subfamily E,				ENSP00000444054		1-Jan									COSM3397908	1-Jan	.		ENST00000537935	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000183269	g.chr11:5878765C>T	15217			LOW								--	--	1																																		TRIM5_uc001mbq.1_Intron	1	1			p.Q56Q	NM_001005168	NP_001005168			1	O52E8_HUMAN	OR52E8	HGNC	Q6IFG1	O52E8_HUMAN		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)			1	168	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)	UPI000004B211	56			Cytoplasmic (Potential).		SNV	OR52E8,synonymous_variant,p.=,ENST00000537935,NM_001005168.1;TRIM5,intron_variant,,ENST00000380027,;TRIM5,intron_variant,,ENST00000412903,;	uc010qzr.1	c.168G>A	200/1061	2	2			c.168G>A						11	SNP	c.(166-168)CAG>CAA	48	48			skin(2)	2	Broad	olfactory receptor, family 52, subfamily E,			5878765		0.483	ENSG00000183269	10928	g.chr11:5878765C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-42.787496	KEEP	2	3	-1	95	110	2	3	-1	7.735542	95	110	0.020408	1	0	0	0	0	0	0	1	0	--	--		0	T			TRIM5_uc001mbq.1_Intron	272	GBM-76-4934-TP	p.Q56Q	C	TCTGCTCAGTCTGGATCACAA	NM_001005168	NP_001005168	5878765	Q6IFG1	O52E8_HUMAN	0		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	168	-	T	T		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)	Silent	56			Cytoplasmic (Potential).			
OR52H1	0	broad.mit.edu	GRCh37	11	5565836	5565836	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-2638-01	TCGA-32-2638-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322653.4:c.918G>T	p.Gln306His	p.Q306H	ENST00000322653	NM_001005289.1	306	caG/caT	0			1			A	Q/H	uc010qzh.1	protein_coding	YES	CCDS31386.1			918/963									ovary(1)|breast(1)	2	c.(916-918)CAG>CAT			Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF123,Superfamily_domains:SSF81321	olfactory receptor, family 52, subfamily H,				ENSP00000326259		1-Jan									COSM3397804	1-Jan	.		ENST00000322653	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000181616	g.chr11:5565836C>A	15218			MODERATE		3.025	medium	getma.org/?cm=msa&ty=f&p=O52H1_HUMAN&rb=264&re=320&var=Q306H	NA	getma.org/?cm=var&var=hg19,11,5565836,C,A&fts=all	Q306H	--	--	1																																		HBG2_uc001mak.1_Intron	1	1		possibly_damaging(0.883)	p.Q306H	NM_001005289	NP_001005289		deleterious(0.01)	1	O52H1_HUMAN	OR52H1	HGNC	Q8NGJ2	O52H1_HUMAN		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)			1	918	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	UPI0000041EB2	306			Cytoplasmic (Potential).		SNV	OR52H1,missense_variant,p.Gln306His,ENST00000322653,NM_001005289.1;HBG2,intron_variant,,ENST00000380259,;	uc010qzh.1	c.918G>T	944/1061	2	2			c.918G>T						11	SNP	c.(916-918)CAG>CAT	20	20			ovary(1)|breast(1)	2	Broad	olfactory receptor, family 52, subfamily H,			5565836		0.403	ENSG00000181616	10929	g.chr11:5565836C>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-3.558042	KEEP	5	3	0.375	50	43	5	3	0.375	14.460522	50	43	0.072917	1	0	0	0	0	1	0	0	0	--	--		0	A			HBG2_uc001mak.1_Intron	242	GBM-32-2638-TP	p.Q306H	C	TATCTCTGATCTGCTTGGTCT	NM_001005289	NP_001005289	5565836	Q8NGJ2	O52H1_HUMAN	0		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	918	-	A	A		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	Missense_Mutation	306			Cytoplasmic (Potential).			
OR52I1	0	broad.mit.edu	GRCh37	11	4615416	4615416	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000530443.2:c.148G>A	p.Val50Met	p.V50M	ENST00000530443	NM_001005169.1	50	Gtg/Atg	0			1			A	V/M	uc010qyi.1	protein_coding	YES	CCDS59223.1			148/975									ovary(1)|central_nervous_system(1)	2	c.(148-150)GTG>ATG			Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF86,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	olfactory receptor, family 52, subfamily I,				ENSP00000436453		1-Jan	1.65E-05					1.50E-05		6.06E-05	rs766970198,COSM3397696	1-Jan	.		ENST00000530443	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000232268	g.chr11:4615416G>A	15220			MODERATE		0.08	neutral	getma.org/?cm=msa&ty=f&p=O52I1_HUMAN&rb=45&re=297&var=V50M	getma.org/pdb.php?prot=O52I1_HUMAN&from=45&to=297&var=V50M	getma.org/?cm=var&var=hg19,11,4615416,G,A&fts=all	V50M	--	--	1																																			0,1	1		benign(0.014)	p.V50M	NM_001005169	NP_001005169		tolerated(0.11)	0,1	O52I1_HUMAN	OR52I1	HGNC	Q8NGK6	O52I1_HUMAN		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)			1	148	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	UPI0000046AE5	50			Helical; Name=1; (Potential).		SNV	OR52I1,missense_variant,p.Val74Met,ENST00000450052,;OR52I1,missense_variant,p.Val50Met,ENST00000530443,NM_001005169.1;TRIM68,downstream_gene_variant,,ENST00000300747,NM_018073.6;TRIM68,downstream_gene_variant,,ENST00000531101,;	uc010qyi.1	c.148G>A	148/975	2	2			c.148G>A						11	SNP	c.(148-150)GTG>ATG	21	21			ovary(1)|central_nervous_system(1)	2	Broad	olfactory receptor, family 52, subfamily I,			4615416		0.517	ENSG00000232268	10930	g.chr11:4615416G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-14.441674	KEEP	18	19	-1	174	130	18	19	-1	38.177925	174	130	0.06391	1	0	0	0	0	1	0	0	0	--	--		0	A				125	GBM-12-3649-TP	p.V50M	G	CACCCTCATCGTGACTGCAAT	NM_001005169	NP_001005169	4615416	Q8NGK6	O52I1_HUMAN	0		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	148	+	A	A		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	Missense_Mutation	50			Helical; Name=1; (Potential).			
OR52I1	0	broad.mit.edu	GRCh37	11	4616048	4616048	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-19-2620-01	TCGA-19-2620-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000530443.2:c.781delG	p.Ala261HisfsTer12	p.A261Hfs*12	ENST00000530443	NM_001005169.1	260	atG/at	0			1			-	M/X	uc010qyi.1	protein_coding	YES	CCDS59223.1			780/975									ovary(1)|central_nervous_system(1)	2	c.(778-780)ATGfs			Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF86,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	olfactory receptor, family 52, subfamily I,				ENSP00000436453		1-Jan										1-Jan	.		ENST00000530443	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000232268	g.chr11:4616048delG	15220	1		HIGH								--	--	1																																				1			p.M260fs	NM_001005169	NP_001005169				O52I1_HUMAN	OR52I1	HGNC	Q8NGK6	O52I1_HUMAN		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)			1	780	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	UPI0000046AE5	260			Helical; Name=6; (Potential).		deletion	OR52I1,frameshift_variant,p.Ala285HisfsTer12,ENST00000450052,;OR52I1,frameshift_variant,p.Ala261HisfsTer12,ENST00000530443,NM_001005169.1;TRIM68,downstream_gene_variant,,ENST00000300747,NM_018073.6;TRIM68,downstream_gene_variant,,ENST00000531101,;	uc010qyi.1	c.780delG	780/975	5	5			c.780delG						11	DEL	c.(778-780)ATGfs	12	12			ovary(1)|central_nervous_system(1)	2	Broad	olfactory receptor, family 52, subfamily I,			4616048		0.507	ENSG00000232268	10930	g.chr11:4616048delG	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity																				0.04	1	1	0	1	0	0	0	0	0	--	--		0	-				162	GBM-19-2620-TP	p.M260fs	G	TACCTGGGATGGCATCCATCT	NM_001005169	NP_001005169	4616048	Q8NGK6	O52I1_HUMAN	0		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	780	+	-	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	Frame_Shift_Del	260			Helical; Name=6; (Potential).			
OR52J3	119679	broad.mit.edu	GRCh37	11	5068409	5068409	+	synonymous_variant	Silent	SNP	G	G	A	rs148600962		TCGA-06-0750-01	TCGA-06-0750-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380370.1:c.654G>A	p.Ser218=	p.S218=	ENST00000380370	NM_001001916.2	218	tcG/tcA	0	A:0.0002		1			A	S	uc010qyv.1	protein_coding	YES	CCDS31370.1			654/936									ovary(1)|lung(1)|skin(1)	3	c.(652-654)TCG>TCA			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF9,hmmpanther:PTHR26450,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 52, subfamily J,			A:0	ENSP00000369728		1-Jan	5.77E-05	0.000192	0.000346			1.50E-05			rs148600962,COSM2151974	1-Jan	.		ENST00000380370	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000205495	g.chr11:5068409G>A	14799			LOW								--	--	1																																			0,1	1			p.S218S	NM_001001916	NP_001001916			0,1	O52J3_HUMAN	OR52J3	HGNC	Q8NH60	O52J3_HUMAN		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)			1	654	+		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)	UPI0000046AE0	218			Helical; Name=5; (Potential).		SNV	OR52J3,synonymous_variant,p.=,ENST00000380370,NM_001001916.2;	uc010qyv.1	c.654G>A	654/936	2	2			c.654G>A						11	SNP	c.(652-654)TCG>TCA	18	18			ovary(1)|lung(1)|skin(1)	3	Broad	olfactory receptor, family 52, subfamily J,			5068409		0.448	ENSG00000205495	10932	g.chr11:5068409G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							292.601987	KEEP	64	54	-1	133	92	64	54	-1	299.54018	133	92	0.339869	1	0	0	0	0	0	0	1	0	--	--		0	A				70	GBM-06-0750-TP	p.S218S	G	TTGGCATCTCGTATGTTTACA	NM_001001916	NP_001001916	5068409	Q8NH60	O52J3_HUMAN	0		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	654	+	A	A		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)	Silent	218			Helical; Name=5; (Potential).			
OR52J3	0	broad.mit.edu	GRCh37	11	5068212	5068212	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01	TCGA-27-1831-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380370.1:c.457C>T	p.Arg153Cys	p.R153C	ENST00000380370	NM_001001916.2	153	Cgt/Tgt	0			1			T	R/C	uc010qyv.1	protein_coding	YES	CCDS31370.1			457/936									ovary(1)|lung(1)|skin(1)	3	c.(457-459)CGT>TGT			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF9,hmmpanther:PTHR26450,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 52, subfamily J,				ENSP00000369728		1-Jan	8.24E-06					1.50E-05			rs774802089,COSM3397758	1-Jan	.		ENST00000380370	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000205495	g.chr11:5068212C>T	14799			MODERATE		3.52	high	getma.org/?cm=msa&ty=f&p=O52J3_HUMAN&rb=137&re=286&var=R153C	NA	getma.org/?cm=var&var=hg19,11,5068212,C,T&fts=all	R153C	--	--	1																																			0,1	1		benign(0.015)	p.R153C	NM_001001916	NP_001001916		deleterious(0)	0,1	O52J3_HUMAN	OR52J3	HGNC	Q8NH60	O52J3_HUMAN		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)			1	457	+		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)	UPI0000046AE0	153			Helical; Name=4; (Potential).		SNV	OR52J3,missense_variant,p.Arg153Cys,ENST00000380370,NM_001001916.2;	uc010qyv.1	c.457C>T	457/936	2	2			c.457C>T						11	SNP	c.(457-459)CGT>TGT	30	30			ovary(1)|lung(1)|skin(1)	3	Broad	olfactory receptor, family 52, subfamily J,			5068212		0.468	ENSG00000205495	10932	g.chr11:5068212C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							133.109414	KEEP	28	17	-1	37	36	28	17	-1	134.45279	37	36	0.384615	1	0	0	0	0	1	0	0	0	--	--		0	T				190	GBM-27-1831-TP	p.R153C	C	CATTGTAATTCGTCCCGTTTT	NM_001001916	NP_001001916	5068212	Q8NH60	O52J3_HUMAN	0		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	457	+	T	T		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)	Missense_Mutation	153			Helical; Name=4; (Potential).			
OR52K1	390036	broad.mit.edu	GRCh37	11	4510426	4510426	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0124-01	TCGA-06-0124-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307632.3:c.296G>C	p.Cys99Ser	p.C99S	ENST00000307632	NM_001005171.2	99	tGt/tCt	0			1			C	C/S	uc001lza.1	protein_coding	YES	CCDS31352.1			296/945										0	c.(295-297)TGT>TCT			Gene3D:1.20.1070.10,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF21,Superfamily_domains:SSF81321	olfactory receptor, family 52, subfamily K,				ENSP00000302422		1-Jan	8.24E-06		8.64E-05						rs777291681,COSM2149257	1-Jan	.		ENST00000307632	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000196778	g.chr11:4510426G>C	15222			MODERATE		4.24	high	getma.org/?cm=msa&ty=f&p=O52K1_HUMAN&rb=1&re=143&var=C99S	getma.org/pdb.php?prot=O52K1_HUMAN&from=1&to=143&var=C99S	getma.org/?cm=var&var=hg19,11,4510426,G,C&fts=all	C99S	--	--	1																																			0,1	1		possibly_damaging(0.881)	p.C99S	NM_001005171	NP_001005171		deleterious(0)	0,1	O52K1_HUMAN	OR52K1	HGNC	Q8NGK4	O52K1_HUMAN		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)			1	296	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	UPI00001AEE74	99			Extracellular (Potential).		SNV	OR52K1,missense_variant,p.Cys99Ser,ENST00000307632,NM_001005171.2;	uc001lza.1	c.296G>C	318/1030	3	3			c.296G>C						11	SNP	c.(295-297)TGT>TCT	58	58				0	Broad	olfactory receptor, family 52, subfamily K,			4510426		0.502	ENSG00000196778	10933	g.chr11:4510426G>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							60.969712	KEEP	15	5	-1	37	18	15	5	-1	64.328298	37	18	0.273973	1	0	0	0	0	1	0	0	0	--	--		0	C				11	GBM-06-0124-TP	p.C99S	G	TTCTTTGCCTGTCTGGTCCAG	NM_001005171	NP_001005171	4510426	Q8NGK4	O52K1_HUMAN	0		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	296	+	C	C		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	Missense_Mutation	99			Extracellular (Potential).			
OR52K2	119774	broad.mit.edu	GRCh37	11	4471261	4471261	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0221-01	TCGA-06-0221-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325719.4:c.692C>A	p.Ala231Asp	p.A231D	ENST00000325719	NM_001005172.2	231	gCc/gAc	0			1			A	A/D	uc001lyz.1	protein_coding	YES	CCDS31351.1			692/945									skin(2)	2	c.(691-693)GCC>GAC			Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF11,PROSITE_profiles:PS50262	olfactory receptor, family 52, subfamily K,				ENSP00000318956		1-Jan									COSM3397684	1-Jan	.		ENST00000325719	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000181963	g.chr11:4471261C>A	15223			MODERATE		3.135	medium	getma.org/?cm=msa&ty=f&p=O52K2_HUMAN&rb=144&re=287&var=A231D	NA	getma.org/?cm=var&var=hg19,11,4471261,C,A&fts=all	A231D	--	--	1																																			1	1		possibly_damaging(0.861)	p.A231D	NM_001005172	NP_001005172		deleterious(0.01)	1	O52K2_HUMAN	OR52K2	HGNC	Q8NGK3	O52K2_HUMAN		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)			1	692	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	UPI000003FE0B	231			Cytoplasmic (Potential).		SNV	OR52K2,missense_variant,p.Ala231Asp,ENST00000325719,NM_001005172.2;AC010930.1,downstream_gene_variant,,ENST00000408103,;	uc001lyz.1	c.692C>A	737/1067	2	2			c.692C>A						11	SNP	c.(691-693)GCC>GAC	40	40			skin(2)	2	Broad	olfactory receptor, family 52, subfamily K,			4471261		0.463	ENSG00000181963	10934	g.chr11:4471261C>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-29.346581	KEEP	3	6	0.666666667	104	109	3	6	0.666666667	16.005761	104	109	0.044118	1	0	0	0	0	1	0	0	0	--	--		0	A				53	GBM-06-0221-TP	p.A231D	C	CTACTGCTTGCCTCTCAGGAG	NM_001005172	NP_001005172	4471261	Q8NGK3	O52K2_HUMAN	0		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	692	+	A	A		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	Missense_Mutation	231			Cytoplasmic (Potential).			
OR52L1	338751	broad.mit.edu	GRCh37	11	6007615	6007615	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0188-01	TCGA-06-0188-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332249.4:c.546A>G	p.Gly182=	p.G182=	ENST00000332249	NM_001005173.2	182	ggA/ggG	0			1			C	G	uc001mcd.2	protein_coding	YES	CCDS44529.1			546/990									central_nervous_system(1)|pancreas(1)	2	c.(544-546)GGA>GGG			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF96,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 52, subfamily L,				ENSP00000330338		1-Jan	8.27E-06					1.50E-05			rs763300539,COSM3397941,COSM3397940	1-Jan	.		ENST00000332249	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000183313	g.chr11:6007615T>C	14785			LOW								--	--	1																																			0,1,1	1			p.G182G	NM_001005173	NP_001005173			0,1,1	O52L1_HUMAN	OR52L1	HGNC	Q8NGH7	O52L1_HUMAN		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)			1	601	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	UPI00001B006D	182			Extracellular (Potential).		SNV	OR52L1,synonymous_variant,p.=,ENST00000332249,NM_001005173.2;	uc001mcd.2	c.546A>G	601/1094	3	3			c.546A>G						11	SNP	c.(544-546)GGA>GGG	56	56			central_nervous_system(1)|pancreas(1)	2	Broad	olfactory receptor, family 52, subfamily L,			6007615		0.488	ENSG00000183313	10935	g.chr11:6007615T>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	Melanoma(121;653 1666 10547 22796 51255)			Melanoma(121;653 1666 10547 22796 51255)			-14.829221	KEEP	4	5	-1	85	87	4	5	-1	20.36109	85	87	0.04908	1	0	0	0	0	0	0	1	0	--	--		0	C				41	GBM-06-0188-TP	p.G182G	T	AGATAAGTTTTCCCAACAAAA	NM_001005173	NP_001005173	6007615	Q8NGH7	O52L1_HUMAN	0		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	601	-	C	C		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	Silent	182			Extracellular (Potential).			
OR52M1	0	broad.mit.edu	GRCh37	11	4566682	4566682	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-12-0616-01	TCGA-12-0616-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360213.1:c.262T>C	p.Trp88Arg	p.W88R	ENST00000360213	NM_001004137.1	88	Tgg/Cgg	0			1			C	W/R	uc010qyf.1	protein_coding	YES	CCDS31353.1			262/954										0	c.(262-264)TGG>CGG			Gene3D:1.20.1070.10,Pfam_domain:PF10320,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF129,Superfamily_domains:SSF81321	olfactory receptor, family 52, subfamily M,				ENSP00000353343		1-Jan									COSM2153583	1-Jan	.		ENST00000360213	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000197790	g.chr11:4566682T>C	15225			MODERATE		3.21	medium	getma.org/?cm=msa&ty=f&p=O52M1_HUMAN&rb=1&re=140&var=W88R	getma.org/pdb.php?prot=O52M1_HUMAN&from=1&to=140&var=W88R	getma.org/?cm=var&var=hg19,11,4566682,T,C&fts=all	W88R	--	--	1																																			1	1		probably_damaging(0.968)	p.W88R	NM_001004137	NP_001004137		deleterious(0)	1	O52M1_HUMAN	OR52M1	HGNC	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)			1	262	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	UPI0000041C62	88			Extracellular (Potential).		SNV	OR52M1,missense_variant,p.Trp88Arg,ENST00000360213,NM_001004137.1;	uc010qyf.1	c.262T>C	262/954	3	3			c.262T>C						11	SNP	c.(262-264)TGG>CGG	51	51				0	Broad	olfactory receptor, family 52, subfamily M,			4566682		0.517	ENSG00000197790	10936	g.chr11:4566682T>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							251.924778	KEEP	37	42	-1	34	12	37	42	-1	253.406197	34	12	0.62069	1	0	0	0	0	1	0	0	0	--	--		0	C				118	GBM-12-0616-TP	p.W88R	T	GGGAATCTTCTGGTTCGGTGC	NM_001004137	NP_001004137	4566682	Q8NGK5	O52M1_HUMAN	0		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	262	+	C	C		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	Missense_Mutation	88			Extracellular (Potential).			
OR52M1	0	broad.mit.edu	GRCh37	11	4566796	4566796	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs61751910	byFrequency	TCGA-19-5960-01	TCGA-19-5960-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360213.1:c.376G>A	p.Val126Met	p.V126M	ENST00000360213	NM_001004137.1	126	Gtg/Atg	0	A:0.0027	A:0.0045	1	A:0		A	V/M	uc010qyf.1	protein_coding	YES	CCDS31353.1			376/954										0	c.(376-378)GTG>ATG			Gene3D:1.20.1070.10,Pfam_domain:PF10320,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF129,Superfamily_domains:SSF81321	olfactory receptor, family 52, subfamily M,		A:0	A:0	ENSP00000353343	A:0	1-Jan	0.000231	0.00269							rs61751910,COSM3397687	1-Jan	common_variant		ENST00000360213	Transcript		A:0.0012	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000197790	g.chr11:4566796G>A	15225			MODERATE		2.85	medium	getma.org/?cm=msa&ty=f&p=O52M1_HUMAN&rb=1&re=140&var=V126M	getma.org/pdb.php?prot=O52M1_HUMAN&from=1&to=140&var=V126M	getma.org/?cm=var&var=hg19,11,4566796,G,A&fts=all	V126M	--	--	1																																			0,1	1		benign(0.094)	p.V126M	NM_001004137	NP_001004137	A:0	deleterious(0.02)	0,1	O52M1_HUMAN	OR52M1	HGNC	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)			1	376	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	UPI0000041C62	126			Cytoplasmic (Potential).		SNV	OR52M1,missense_variant,p.Val126Met,ENST00000360213,NM_001004137.1;	uc010qyf.1	c.376G>A	376/954	1	1			c.376G>A						11	SNP	c.(376-378)GTG>ATG	64	64				0	Broad	olfactory receptor, family 52, subfamily M,			4566796		0.527	ENSG00000197790	10936	g.chr11:4566796G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							133.963644	KEEP	17	24	-1	4	7	17	24	-1	138.338369	4	7	0.803922	1	0	0	0	0	1	0	0	0	--	--		0	A				178	GBM-19-5960-TP	p.V126M	G	TGATCGCTACGTGGCCATCTG	NM_001004137	NP_001004137	4566796	Q8NGK5	O52M1_HUMAN	0		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	376	+	A	A		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	Missense_Mutation	126			Cytoplasmic (Potential).			
OR52M1	0	broad.mit.edu	GRCh37	11	4566817	4566817	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1986-01	TCGA-32-1986-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360213.1:c.397C>T	p.Arg133Cys	p.R133C	ENST00000360213	NM_001004137.1	133	Cgt/Tgt	0	T:0	T:0	1	T:0		T	R/C	uc010qyf.1	protein_coding	YES	CCDS31353.1			397/954										0	c.(397-399)CGT>TGT			Gene3D:1.20.1070.10,Pfam_domain:PF10320,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF129,Superfamily_domains:SSF81321	olfactory receptor, family 52, subfamily M,		T:0.001	T:0.0002	ENSP00000353343	T:0.001	1-Jan	0.000156					0.000287			rs201225598,COSM1979585	1-Jan	.		ENST00000360213	Transcript		T:0.0004	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000197790	g.chr11:4566817C>T	15225			MODERATE		3.235	medium	getma.org/?cm=msa&ty=f&p=O52M1_HUMAN&rb=1&re=140&var=R133C	getma.org/pdb.php?prot=O52M1_HUMAN&from=1&to=140&var=R133C	getma.org/?cm=var&var=hg19,11,4566817,C,T&fts=all	R133C	--	--	1																																			0,1	1		benign(0.008)	p.R133C	NM_001004137	NP_001004137	T:0	deleterious(0.01)	0,1	O52M1_HUMAN	OR52M1	HGNC	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)			1	397	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	UPI0000041C62	133			Cytoplasmic (Potential).		SNV	OR52M1,missense_variant,p.Arg133Cys,ENST00000360213,NM_001004137.1;	uc010qyf.1	c.397C>T	397/954	2	2			c.397C>T						11	SNP	c.(397-399)CGT>TGT	30	30				0	Broad	olfactory receptor, family 52, subfamily M,			4566817		0.522	ENSG00000197790	10936	g.chr11:4566817C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							110.879993	KEEP	18	24	-1	53	46	18	24	-1	114.675849	53	46	0.314516	1	0	0	0	0	1	0	0	0	--	--		0	T				233	GBM-32-1986-TP	p.R133C	C	CAACCCACTACGTCATAGCAT	NM_001004137	NP_001004137	4566817	Q8NGK5	O52M1_HUMAN	0		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	397	+	T	T		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	Missense_Mutation	133			Cytoplasmic (Potential).			
OR52M1	0	broad.mit.edu	GRCh37	11	4566916	4566916	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2615-01	TCGA-32-2615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360213.1:c.496C>T	p.Arg166Cys	p.R166C	ENST00000360213	NM_001004137.1	166	Cgc/Tgc	0		T:0	1	T:0		T	R/C	uc010qyf.1	protein_coding	YES	CCDS31353.1			496/954										0	c.(496-498)CGC>TGC			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF129,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321	olfactory receptor, family 52, subfamily M,		T:0		ENSP00000353343	T:0.001	1-Jan	0.000708	9.62E-05		0.000116	0.000151	4.52E-05		0.00506	rs201510674,COSM3397688	1-Jan	common_variant		ENST00000360213	Transcript		T:0.0018	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000197790	g.chr11:4566916C>T	15225			MODERATE		2.435	medium	getma.org/?cm=msa&ty=f&p=O52M1_HUMAN&rb=141&re=288&var=R166C	NA	getma.org/?cm=var&var=hg19,11,4566916,C,T&fts=all	R166C	--	--	1																																			0,1	1		benign(0.052)	p.R166C	NM_001004137	NP_001004137	T:0.0082	deleterious(0.02)	0,1	O52M1_HUMAN	OR52M1	HGNC	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)			1	496	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	UPI0000041C62	166			Extracellular (Potential).		SNV	OR52M1,missense_variant,p.Arg166Cys,ENST00000360213,NM_001004137.1;	uc010qyf.1	c.496C>T	496/954	2	2			c.496C>T						11	SNP	c.(496-498)CGC>TGC	46	46				0	Broad	olfactory receptor, family 52, subfamily M,			4566916		0.522	ENSG00000197790	10936	g.chr11:4566916C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							141.882335	KEEP	32	22	-1	45	32	32	22	-1	142.765593	45	32	0.40367	1	0	0	0	0	1	0	0	0	--	--		0	T				239	GBM-32-2615-TP	p.R166C	C	TCTGATGATCCGCCTGCGGCT	NM_001004137	NP_001004137	4566916	Q8NGK5	O52M1_HUMAN	0		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	496	+	T	T		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	Missense_Mutation	166			Extracellular (Potential).			
OR52N1	79473		GRCh37	11	5809262	5809262	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000317078.1:c.785T>C	p.Phe262Ser	p.F262S	ENST00000317078	NM_001001913.1	262	tTt/tCt	0																																																																																																																																																																																																																																												
OR52N2	0	broad.mit.edu	GRCh37	11	5842404	5842404	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-4926-01	TCGA-76-4926-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317037.2:c.839C>G	p.Ala280Gly	p.A280G	ENST00000317037	NM_001005174.1	280	gCc/gGc	0			1			G	A/G	uc010qzp.1	protein_coding	YES	CCDS31399.1			839/966									ovary(1)|skin(1)	2	c.(838-840)GCC>GGC			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF55,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 52, subfamily N,				ENSP00000322801		1-Jan									COSM429314	1-Jan	.		ENST00000317037	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000180988	g.chr11:5842404C>G	15228			MODERATE		2.345	medium	getma.org/?cm=msa&ty=f&p=O52N2_HUMAN&rb=142&re=288&var=A280G	NA	getma.org/?cm=var&var=hg19,11,5842404,C,G&fts=all	A280G	--	--	1																																		TRIM5_uc001mbq.1_Intron	1	1		probably_damaging(1)	p.A280G	NM_001005174	NP_001005174		deleterious(0.04)	1	O52N2_HUMAN	OR52N2	HGNC	Q8NGI0	O52N2_HUMAN		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)			1	839	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	UPI0000041BEB	280			Helical; Name=7; (Potential).		SNV	OR52N2,missense_variant,p.Ala280Gly,ENST00000317037,NM_001005174.1;TRIM5,intron_variant,,ENST00000380027,;TRIM5,intron_variant,,ENST00000412903,;	uc010qzp.1	c.839C>G	861/1035	3	3			c.839C>G						11	SNP	c.(838-840)GCC>GGC	15	15			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 52, subfamily N,			5842404		0.398	ENSG00000180988	10938	g.chr11:5842404C>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							233.106063	KEEP	41	46	-1	86	92	41	46	-1	238.183997	86	92	0.3379	1	0	0	0	0	1	0	0	0	--	--		0	G			TRIM5_uc001mbq.1_Intron	266	GBM-76-4926-TP	p.A280G	C	ATCATCGTGGCCAACCTTTAT	NM_001005174	NP_001005174	5842404	Q8NGI0	O52N2_HUMAN	0		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	839	+	G	G		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	Missense_Mutation	280			Helical; Name=7; (Potential).			
OR52N4	0	broad.mit.edu	GRCh37	11	5776764	5776764	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2624-01	TCGA-19-2624-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317254.3:c.794G>A	p.Arg265His	p.R265H	ENST00000317254	NM_001005175.3	265	cGc/cAc	0			1			A	R/H	uc001mbu.2	protein_coding	YES	CCDS44528.1			794/966									ovary(1)|skin(1)	2	c.(793-795)CGC>CAC			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF74,Superfamily_domains:SSF81321	olfactory receptor, family 52, subfamily N,				ENSP00000323224		1-Jan	3.31E-05					4.50E-05		6.06E-05	rs574734485,COSM3397886	1-Jan	.		ENST00000317254	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000181074	g.chr11:5776764G>A	15230			MODERATE		2.61	medium	getma.org/?cm=msa&ty=f&p=O52N4_HUMAN&rb=142&re=288&var=R265H	NA	getma.org/?cm=var&var=hg19,11,5776764,G,A&fts=all	R265H	--	--	1																																		TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	0,1	1		benign(0.104)	p.R265H	NM_001005175	NP_001005175		deleterious(0.05)	0,1	O52N4_HUMAN	OR52N4	HGNC	Q8NGI2	O52N4_HUMAN		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)			1	842	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	UPI00001AF18B	265			Extracellular (Potential).		SNV	OR52N4,missense_variant,p.Arg265His,ENST00000317254,NM_001005175.3;TRIM5,intron_variant,,ENST00000380027,;TRIM5,intron_variant,,ENST00000412903,;	uc001mbu.2	c.794G>A	842/1037	2	2			c.794G>A						11	SNP	c.(793-795)CGC>CAC	20	20			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 52, subfamily N,			5776764		0.468	ENSG00000181074	10939	g.chr11:5776764G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							268.180815	KEEP	45	49	-1	72	57	45	49	-1	269.150948	72	57	0.427907	1	0	0	0	0	1	0	0	0	--	--		0	A			TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	164	GBM-19-2624-TP	p.R265H	G	TTTTCCCACCGCTTTGGGGAA	NM_001005175	NP_001005175	5776764	Q8NGI2	O52N4_HUMAN	0		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)	1	842	+	A	A		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	Missense_Mutation	265			Extracellular (Potential).			
OR52R1	0	broad.mit.edu	GRCh37	11	4825512	4825512	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6191-01	TCGA-76-6191-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356069.2:c.99G>A	p.Pro33=	p.P33=	ENST00000356069	NM_001005177.3	33	ccG/ccA	0			1			T	P	uc010qym.1	protein_coding	YES	CCDS31360.2			99/948									skin(1)	1	c.(334-336)CCG>CCA			Transmembrane_helices:TMhelix,hmmpanther:PTHR26450:SF68,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 52, subfamily R,				ENSP00000348368		1-Jan									COSM429092,COSM429091	1-Jan	.		ENST00000356069	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000176937	g.chr11:4825512C>T	15235			LOW								--	--	1																																			1,1	1			p.P112P	NM_001005177	NP_001005177			1,1	O52R1_HUMAN	OR52R1	HGNC	Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)			1	336	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	UPI0000140D5C	33			Helical; Name=1; (Potential).		SNV	OR52R1,synonymous_variant,p.=,ENST00000380382,;OR52R1,synonymous_variant,p.=,ENST00000356069,NM_001005177.3;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	uc010qym.1	c.336G>A	99/948	1	1			c.336G>A						11	SNP	c.(334-336)CCG>CCA	11	11			skin(1)	1	Broad	olfactory receptor, family 52, subfamily R,			4825512		0.512	ENSG00000176937	10941	g.chr11:4825512C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							36.868622	KEEP	10	5	-1	7	11	10	5	-1	36.984812	7	11	0.433333	1	0	0	0	0	0	0	1	0	--	--		0	T				274	GBM-76-6191-TP	p.P112P	C	TGGCACAGAACGGAAAGGCAA	NM_001005177	NP_001005177	4825512	Q8NGF1	O52R1_HUMAN	0		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	336	-	T	T		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	Silent	33			Helical; Name=1; (Potential).			
OR56A3	390083	broad.mit.edu	GRCh37	11	5969282	5969282	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01	TCGA-06-2565-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329564.6:c.706G>A	p.Gly236Ser	p.G236S	ENST00000329564	NM_001003443.2	236	Ggt/Agt	0			1			A	G/S	uc010qzt.1	protein_coding	YES	CCDS41614.1			706/948										0	c.(706-708)GGT>AGT			Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26450:SF40,hmmpanther:PTHR26450,PROSITE_profiles:PS50262	olfactory receptor, family 56, subfamily A,				ENSP00000331572		1-Jan									COSM3397932	1-Jan	.		ENST00000329564	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000184478	g.chr11:5969282G>A	14786			MODERATE		1.685	low	getma.org/?cm=msa&ty=f&p=O56A3_HUMAN&rb=144&re=289&var=G236S	NA	getma.org/?cm=var&var=hg19,11,5969282,G,A&fts=all	G236S	--	--	1																																			1	1		benign(0.438)	p.G236S	NM_001003443	NP_001003443		tolerated(0.11)	1	O56A3_HUMAN	OR56A3	HGNC	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)			1	706	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	UPI0000041BF7	236			Cytoplasmic (Potential).		SNV	OR56A3,missense_variant,p.Gly236Ser,ENST00000329564,NM_001003443.2;AC025016.1,downstream_gene_variant,,ENST00000528915,;	uc010qzt.1	c.706G>A	713/1022	2	2			c.706G>A						11	SNP	c.(706-708)GGT>AGT	25	25				0	Broad	olfactory receptor, family 56, subfamily A,			5969282		0.522	ENSG00000184478	10944	g.chr11:5969282G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-50.846495	KEEP	8	7	-1	179	185	8	7	-1	27.176169	179	185	0.038348	1	0	0	0	0	1	0	0	0	--	--		0	A				88	GBM-06-2565-TP	p.G236S	G	CAAGGCAGAGGGTGCCGTGGC	NM_001003443	NP_001003443	5969282	Q8NH54	O56A3_HUMAN	0		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	706	+	A	A		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	Missense_Mutation	236			Cytoplasmic (Potential).			
OR56A4	120793	broad.mit.edu	GRCh37	11	6024337	6024337	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330728.4:c.42G>A	p.Gln14=	p.Q14=	ENST00000330728	NM_001005179.2	14	caG/caA	0			1			T	Q	uc010qzv.1	protein_coding	YES	CCDS31404.1			42/1098									central_nervous_system(1)|skin(1)	2	c.(40-42)CAG>CAA				olfactory receptor, family 56, subfamily A,				ENSP00000328215		1-Jan									COSM1475604	1-Jan	.		ENST00000330728	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000183389	g.chr11:6024337C>T	14791			LOW								--	--	1																																			1	1			p.Q14Q	NM_001005179	NP_001005179			1	O56A4_HUMAN	OR56A4	HGNC	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)			1	42	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	UPI000041A756	Error:Variant_position_missing_in_Q8NGH8_after_alignment					SNV	OR56A4,synonymous_variant,p.=,ENST00000330728,NM_001005179.2;	uc010qzv.1	c.42G>A	88/1209	2	2			c.42G>A						11	SNP	c.(40-42)CAG>CAA	30	30			central_nervous_system(1)|skin(1)	2	Broad	olfactory receptor, family 56, subfamily A,			6024337		0.299	ENSG00000183389	10945	g.chr11:6024337C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							102.44747	KEEP	24	18	-1	67	97	24	18	-1	116.340575	67	97	0.211111	1	0	0	0	0	0	0	1	0	--	--		0	T				46	GBM-06-0209-TP	p.Q14Q	C	CACTGAGGCCCTGTATCTGTC	NM_001005179	NP_001005179	6024337	Q8NGH8	O56A4_HUMAN	0		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	42	-	T	T		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	Silent	Error:Variant_position_missing_in_Q8NGH8_after_alignment						
OR56A4	120793		GRCh37	11	6023660	6023660	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000330728.4:c.719C>T	p.Ser240Phe	p.S240F	ENST00000330728	NM_001005179.2	240	tCc/tTc	0																																																																																																																																																																																																																																												
OR56B1	387748		GRCh37	11	5758585	5758585	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000317121.3:c.839T>C	p.Ile280Thr	p.I280T	ENST00000317121	NM_001005180.2	280	aTt/aCt	0																																																																																																																																																																																																																																												
OR56B4	0	broad.mit.edu	GRCh37	11	6129052	6129052	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-14-0813-01	TCGA-14-0813-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316529.3:c.44T>A	p.Ile15Asn	p.I15N	ENST00000316529	NM_001005181.1	15	aTt/aAt	0			1			A	I/N	uc010qzx.1	protein_coding	YES	CCDS31406.1			44/960									central_nervous_system(1)	1	c.(43-45)ATT>AAT			hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF131,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 56, subfamily B,				ENSP00000321196		1-Jan									COSM2154705	1-Jan	.		ENST00000316529	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000180919	g.chr11:6129052T>A	15248			MODERATE		1.285	low	getma.org/?cm=msa&ty=f&p=O56B4_HUMAN&rb=1&re=40&var=I15N	NA	getma.org/?cm=var&var=hg19,11,6129052,T,A&fts=all	I15N	--	--	1																																			1	1		benign(0.013)	p.I15N	NM_001005181	NP_001005181		deleterious(0.01)	1	O56B4_HUMAN	OR56B4	HGNC	Q8NH76	O56B4_HUMAN		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)			1	44	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	UPI000004B214	15			Extracellular (Potential).		SNV	OR56B4,missense_variant,p.Ile15Asn,ENST00000316529,NM_001005181.1;RP11-290F24.3,downstream_gene_variant,,ENST00000529961,;	uc010qzx.1	c.44T>A	139/1152	2	2			c.44T>A						11	SNP	c.(43-45)ATT>AAT	29	29			central_nervous_system(1)	1	Broad	olfactory receptor, family 56, subfamily B,			6129052		0.493	ENSG00000180919	10947	g.chr11:6129052T>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							74.655258	KEEP	16	13	-1	33	29	16	13	-1	76.49768	33	29	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	A				138	GBM-14-0813-TP	p.I15N	T	AGCCTCCAGATTTCCCAGTTC	NM_001005181	NP_001005181	6129052	Q8NH76	O56B4_HUMAN	0		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	44	+	A	A		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	Missense_Mutation	15			Extracellular (Potential).			
OR5A1	219982	broad.mit.edu	GRCh37	11	59210873	59210873	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0168-01	TCGA-06-0168-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302030.2:c.232T>C	p.Ser78Pro	p.S78P	ENST00000302030	NM_001004728.1	78	Tct/Cct	0			1			C	S/P	uc001nnx.1	protein_coding	YES	CCDS31561.1			232/948									ovary(1)|central_nervous_system(1)	2	c.(232-234)TCT>CCT			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF176,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 5, subfamily A,				ENSP00000303096		1-Jan									COSM2150247	1-Jan	.		ENST00000302030	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000172320	g.chr11:59210873T>C	8319			MODERATE		3.235	medium	getma.org/?cm=msa&ty=f&p=OR5A1_HUMAN&rb=1&re=141&var=S78P	NA	getma.org/?cm=var&var=hg19,11,59210873,T,C&fts=all	S78P	--	--	1																																			1	1		probably_damaging(0.974)	p.S78P	NM_001004728	NP_001004728		deleterious(0.01)	1	OR5A1_HUMAN	OR5A1	HGNC	Q8NGJ0	OR5A1_HUMAN					1	232	+			UPI0000041C97	78			Helical; Name=2; (Potential).		SNV	OR5A1,missense_variant,p.Ser78Pro,ENST00000302030,NM_001004728.1;	uc001nnx.1	c.232T>C	257/1051	4	4			c.232T>C						11	SNP	c.(232-234)TCT>CCT	47	47			ovary(1)|central_nervous_system(1)	2	Broad	olfactory receptor, family 5, subfamily A,			59210873		0.468	ENSG00000172320	10948	g.chr11:59210873T>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							222.078074	KEEP	43	32	-1	86	85	43	32	-1	229.444727	86	85	0.308036	1	0	0	0	0	1	0	0	0	--	--		0	C				33	GBM-06-0168-TP	p.S78P	T	CTGCTACTCTTCTGCTGTGGC	NM_001004728	NP_001004728	59210873	Q8NGJ0	OR5A1_HUMAN	0			1	232	+	C	C			Missense_Mutation	78			Helical; Name=2; (Potential).			
OR5A1	0	broad.mit.edu	GRCh37	11	59211078	59211078	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs143071629	byFrequency;by1000genomes	TCGA-12-0821-01	TCGA-12-0821-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302030.2:c.437G>T	p.Arg146Leu	p.R146L	ENST00000302030	NM_001004728.1	146	cGc/cTc	0			1			T	R/L	uc001nnx.1	protein_coding	YES	CCDS31561.1			437/948									ovary(1)|central_nervous_system(1)	2	c.(436-438)CGC>CTC			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF176,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily A,				ENSP00000303096		1-Jan									COSM3397918	1-Jan	.		ENST00000302030	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000172320	g.chr11:59211078G>T	8319			MODERATE		0.185	neutral	getma.org/?cm=msa&ty=f&p=OR5A1_HUMAN&rb=142&re=286&var=R146L	NA	getma.org/?cm=var&var=hg19,11,59211078,G,T&fts=all	R146L	--	--	1																																			1	1		benign(0.025)	p.R146L	NM_001004728	NP_001004728		tolerated(0.26)	1	OR5A1_HUMAN	OR5A1	HGNC	Q8NGJ0	OR5A1_HUMAN					1	437	+			UPI0000041C97	146			Helical; Name=4; (Potential).		SNV	OR5A1,missense_variant,p.Arg146Leu,ENST00000302030,NM_001004728.1;	uc001nnx.1	c.437G>T	462/1051	1	1			c.437G>T						11	SNP	c.(436-438)CGC>CTC	13	13			ovary(1)|central_nervous_system(1)	2	Broad	olfactory receptor, family 5, subfamily A,			59211078		0.552	ENSG00000172320	10948	g.chr11:59211078G>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							746.980621	KEEP	183	92	0.665454545	243	121	183	92	0.665454545	749.701623	243	121	0.42576	1	0	0	0	0	1	0	0	0	--	--		0	T				123	GBM-12-0821-TP	p.R146L	G	CTCTGTACACGCATGGTGGTT	NM_001004728	NP_001004728	59211078	Q8NGJ0	OR5A1_HUMAN	0			1	437	+	T	T			Missense_Mutation	146			Helical; Name=4; (Potential).			
OR5A1	0	broad.mit.edu	GRCh37	11	59211096	59211096	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-19-2631-01	TCGA-19-2631-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302030.2:c.455A>T	p.Tyr152Phe	p.Y152F	ENST00000302030	NM_001004728.1	152	tAt/tTt	0			1			T	Y/F	uc001nnx.1	protein_coding	YES	CCDS31561.1			455/948									ovary(1)|central_nervous_system(1)	2	c.(454-456)TAT>TTT			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF176,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 5, subfamily A,				ENSP00000303096		1-Jan									COSM366789	1-Jan	.		ENST00000302030	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000172320	g.chr11:59211096A>T	8319			MODERATE		2.04	medium	getma.org/?cm=msa&ty=f&p=OR5A1_HUMAN&rb=142&re=286&var=Y152F	NA	getma.org/?cm=var&var=hg19,11,59211096,A,T&fts=all	Y152F	--	--	1																																			1	1		benign(0.327)	p.Y152F	NM_001004728	NP_001004728		tolerated(0.09)	1	OR5A1_HUMAN	OR5A1	HGNC	Q8NGJ0	OR5A1_HUMAN					1	455	+			UPI0000041C97	152			Helical; Name=4; (Potential).		SNV	OR5A1,missense_variant,p.Tyr152Phe,ENST00000302030,NM_001004728.1;	uc001nnx.1	c.455A>T	480/1051	2	2			c.455A>T						11	SNP	c.(454-456)TAT>TTT	41	41			ovary(1)|central_nervous_system(1)	2	Broad	olfactory receptor, family 5, subfamily A,			59211096		0.547	ENSG00000172320	10948	g.chr11:59211096A>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							678.872011	KEEP	134	135	-1	183	216	134	135	-1	685.071286	183	216	0.388401	1	0	0	0	0	1	0	0	0	--	--		0	T				167	GBM-19-2631-TP	p.Y152F	A	GTTGGGGCATATGTTGGTGGC	NM_001004728	NP_001004728	59211096	Q8NGJ0	OR5A1_HUMAN	0			1	455	+	T	T			Missense_Mutation	152			Helical; Name=4; (Potential).			
OR5A1	0	broad.mit.edu	GRCh37	11	59210760	59210760	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302030.2:c.119C>T	p.Thr40Ile	p.T40I	ENST00000302030	NM_001004728.1	40	aCc/aTc	0			1			T	T/I	uc001nnx.1	protein_coding	YES	CCDS31561.1			119/948									ovary(1)|central_nervous_system(1)	2	c.(118-120)ACC>ATC			Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF176,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 5, subfamily A,				ENSP00000303096		1-Jan									COSM3397916	1-Jan	.		ENST00000302030	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000172320	g.chr11:59210760C>T	8319			MODERATE		-0.31	neutral	getma.org/?cm=msa&ty=f&p=OR5A1_HUMAN&rb=1&re=141&var=T40I	NA	getma.org/?cm=var&var=hg19,11,59210760,C,T&fts=all	T40I	--	--	1																																			1	1		benign(0)	p.T40I	NM_001004728	NP_001004728		tolerated(0.81)	1	OR5A1_HUMAN	OR5A1	HGNC	Q8NGJ0	OR5A1_HUMAN					1	119	+			UPI0000041C97	40			Helical; Name=1; (Potential).		SNV	OR5A1,missense_variant,p.Thr40Ile,ENST00000302030,NM_001004728.1;	uc001nnx.1	c.119C>T	144/1051	2	2			c.119C>T						11	SNP	c.(118-120)ACC>ATC	17	17			ovary(1)|central_nervous_system(1)	2	Broad	olfactory receptor, family 5, subfamily A,			59210760		0.502	ENSG00000172320	10948	g.chr11:59210760C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							128.215216	KEEP	19	29	-1	21	35	19	29	-1	128.400356	21	35	0.452632	1	0	0	0	0	1	0	0	0	--	--		0	T				177	GBM-19-5959-TP	p.T40I	C	ATCTATCTTACCACCCTGGCC	NM_001004728	NP_001004728	59210760	Q8NGJ0	OR5A1_HUMAN	0			1	119	+	T	T			Missense_Mutation	40			Helical; Name=1; (Potential).			
OR5A1	219982		GRCh37	11	59211187	59211187	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000302030.2:c.546C>T	p.Cys182=	p.C182=	ENST00000302030	NM_001004728.1	182	tgC/tgT	0																																																																																																																																																																																																																																												
OR5AC2	81050	broad.mit.edu	GRCh37	3	97806681	97806681	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01	TCGA-06-0213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358642.2:c.665G>A	p.Arg222His	p.R222H	ENST00000358642	NM_054106.1	222	cGt/cAt	0		T:0	1	T:0.0014		A	R/H	uc011bgs.1	protein_coding	YES	CCDS33796.1			665/930									skin(1)	1	c.(664-666)CGT>CAT			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF96,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily AC,		T:0		ENSP00000351466	T:0	1-Jan	8.24E-06							6.13E-05	rs200290395,COSM2150859	1-Jan	.		ENST00000358642	Transcript		T:0.0002	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000196578	g.chr3:97806681G>A	15431			MODERATE		-0.175	neutral	getma.org/?cm=msa&ty=f&p=O5AC2_HUMAN&rb=141&re=285&var=R222H	NA	getma.org/?cm=var&var=hg19,3,97806681,G,A&fts=all	R222H	--	--	1																																			0,1	1		benign(0.013)	p.R222H	NM_054106	NP_473447	T:0	tolerated(0.43)	0,1	O5AC2_HUMAN	OR5AC2	HGNC	Q9NZP5	O5AC2_HUMAN					1	665	+			UPI0000441EFD	222			Cytoplasmic (Potential).		SNV	OR5AC2,missense_variant,p.Arg222His,ENST00000358642,NM_054106.1;	uc011bgs.1	c.665G>A	665/930	2	2			c.665G>A						3	SNP	c.(664-666)CGT>CAT	33	33			skin(1)	1	Broad	olfactory receptor, family 5, subfamily AC,			97806681		0.373	ENSG00000196578	10950	g.chr3:97806681G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							60.362588	KEEP	12	9	-1	15	18	12	9	-1	60.862416	15	18	0.396226	1	0	0	0	0	1	0	0	0	--	--		0	A				49	GBM-06-0213-TP	p.R222H	G	TCTTATACTCGTGTGCTCTTT	NM_054106	NP_473447	97806681	Q9NZP5	O5AC2_HUMAN	0			1	665	+	A	A			Missense_Mutation	222			Cytoplasmic (Potential).			
OR5AC2	81050		GRCh37	3	97806212	97806212	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000358642.2:c.196G>A	p.Gly66Ser	p.G66S	ENST00000358642	NM_054106.1	66	Ggt/Agt	0																																																																																																																																																																																																																																												
OR5AK2	0	broad.mit.edu	GRCh37	11	56756567	56756567	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-41-2575-01	TCGA-41-2575-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326855.2:c.179A>G	p.Tyr60Cys	p.Y60C	ENST00000326855	NM_001005323.1	60	tAc/tGc	0			1			G	Y/C	uc010rjp.1	protein_coding	YES	CCDS31538.1			179/930									ovary(3)	3	c.(178-180)TAC>TGC			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF47,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily AK,				ENSP00000322784		1-Jan									COSM3397866	1-Jan	.		ENST00000326855	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000181273	g.chr11:56756567A>G	15251			MODERATE		3.605	high	getma.org/?cm=msa&ty=f&p=O5AK2_HUMAN&rb=1&re=138&var=Y60C	getma.org/pdb.php?prot=O5AK2_HUMAN&from=1&to=138&var=Y60C	getma.org/?cm=var&var=hg19,11,56756567,A,G&fts=all	Y60C	--	--	1																																			1	1		probably_damaging(1)	p.Y60C	NM_001005323	NP_001005323		deleterious(0)	1	O5AK2_HUMAN	OR5AK2	HGNC	Q8NH90	O5AK2_HUMAN					1	179	+			UPI0000041D03	60			Helical; Name=2; (Potential).		SNV	OR5AK2,missense_variant,p.Tyr60Cys,ENST00000326855,NM_001005323.1;	uc010rjp.1	c.179A>G	221/996	4	4			c.179A>G						11	SNP	c.(178-180)TAC>TGC	21	21			ovary(3)	3	Broad	olfactory receptor, family 5, subfamily AK,			56756567		0.358	ENSG00000181273	10951	g.chr11:56756567A>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							235.398178	KEEP	36	37	-1	75	44	36	37	-1	237.233	75	44	0.389535	1	0	0	0	0	1	0	0	0	--	--		0	G				253	GBM-41-2575-TP	p.Y60C	A	ACACTCACGTACTTTTTTCTA	NM_001005323	NP_001005323	56756567	Q8NH90	O5AK2_HUMAN	0			1	179	+	G	G			Missense_Mutation	60			Helical; Name=2; (Potential).			
OR5AN1	0	broad.mit.edu	GRCh37	11	59132440	59132440	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-12-3652-01	TCGA-12-3652-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313940.2:c.509G>T	p.Cys170Phe	p.C170F	ENST00000313940	NM_001004729.1	170	tGt/tTt	0			1			T	C/F	uc010rks.1	protein_coding	YES	CCDS31559.1			509/936									ovary(1)	1	c.(508-510)TGT>TTT			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF262,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily AN,				ENSP00000320302		1-Jan									COSM3397915	1-Jan	.		ENST00000313940	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000176495	g.chr11:59132440G>T	15255			MODERATE		3.065	medium	getma.org/?cm=msa&ty=f&p=O5AN1_HUMAN&rb=140&re=284&var=C170F	NA	getma.org/?cm=var&var=hg19,11,59132440,G,T&fts=all	C170F	--	--	1																																			1	1		probably_damaging(1)	p.C170F	NM_001004729	NP_001004729		deleterious(0.01)	1	O5AN1_HUMAN	OR5AN1	HGNC	Q8NGI8	O5AN1_HUMAN					1	509	+			UPI000004B1FD	170			Extracellular (Potential).		SNV	OR5AN1,missense_variant,p.Cys170Phe,ENST00000313940,NM_001004729.1;	uc010rks.1	c.509G>T	556/1037	2	2			c.509G>T						11	SNP	c.(508-510)TGT>TTT	46	46			ovary(1)	1	Broad	olfactory receptor, family 5, subfamily AN,			59132440		0.443	ENSG00000176495	10952	g.chr11:59132440G>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							355.063193	KEEP	68	53	0.561983471	86	75	68	53	0.561983471	356.46129	86	75	0.422053	1	0	0	0	0	1	0	0	0	--	--		0	T				127	GBM-12-3652-TP	p.C170F	G	CTCCACTTCTGTGGGTCTAAT	NM_001004729	NP_001004729	59132440	Q8NGI8	O5AN1_HUMAN	0			1	509	+	T	T			Missense_Mutation	170			Extracellular (Potential).			
OR5AN1	0	broad.mit.edu	GRCh37	11	59132528	59132528	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5950-01	TCGA-19-5950-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313940.2:c.597G>A	p.Met199Ile	p.M199I	ENST00000313940	NM_001004729.1	199	atG/atA	0			1			A	M/I	uc010rks.1	protein_coding	YES	CCDS31559.1			597/936									ovary(1)	1	c.(595-597)ATG>ATA			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF262,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily AN,				ENSP00000320302		1-Jan									COSM2156554	1-Jan	.		ENST00000313940	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000176495	g.chr11:59132528G>A	15255			MODERATE		-0.095	neutral	getma.org/?cm=msa&ty=f&p=O5AN1_HUMAN&rb=140&re=284&var=M199I	NA	getma.org/?cm=var&var=hg19,11,59132528,G,A&fts=all	M199I	--	--	1																																			1	1		benign(0.004)	p.M199I	NM_001004729	NP_001004729		tolerated(0.98)	1	O5AN1_HUMAN	OR5AN1	HGNC	Q8NGI8	O5AN1_HUMAN					1	597	+			UPI000004B1FD	199			Helical; Name=5; (Potential).		SNV	OR5AN1,missense_variant,p.Met199Ile,ENST00000313940,NM_001004729.1;	uc010rks.1	c.597G>A	644/1037	2	2			c.597G>A						11	SNP	c.(595-597)ATG>ATA	20	20			ovary(1)	1	Broad	olfactory receptor, family 5, subfamily AN,			59132528		0.408	ENSG00000176495	10952	g.chr11:59132528G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							221.806098	KEEP	40	38	-1	49	66	40	38	-1	223.271194	49	66	0.404372	1	0	0	0	0	1	0	0	0	--	--		0	A				170	GBM-19-5950-TP	p.M199I	G	TACAGGTCATGACTGCTATAT	NM_001004729	NP_001004729	59132528	Q8NGI8	O5AN1_HUMAN	0			1	597	+	A	A			Missense_Mutation	199			Helical; Name=5; (Potential).			
OR5AR1	219493	broad.mit.edu	GRCh37	11	56431862	56431862	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01	TCGA-06-2567-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302969.2:c.701G>A	p.Arg234His	p.R234H	ENST00000302969	NM_001004730.1	234	cGc/cAc	0			1			A	R/H	uc010rjm.1	protein_coding	YES	CCDS31535.1			701/933										0	c.(700-702)CGC>CAC			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF54,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily AR,				ENSP00000302639		1-Jan	8.24E-06					1.50E-05			rs780660808,COSM2153075	1-Jan	.		ENST00000302969	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000172459	g.chr11:56431862G>A	15260			MODERATE		3.065	medium	getma.org/?cm=msa&ty=f&p=O5AR1_HUMAN&rb=139&re=283&var=R234H	NA	getma.org/?cm=var&var=hg19,11,56431862,G,A&fts=all	R234H	--	--	1																																			0,1	1		benign(0.022)	p.R234H	NM_001004730	NP_001004730		deleterious(0.02)	0,1	O5AR1_HUMAN	OR5AR1	HGNC	Q8NGP9	O5AR1_HUMAN			B9EIN0_HUMAN		1	701	+			UPI0000041C93	234			Cytoplasmic (Potential).		SNV	OR5AR1,missense_variant,p.Arg234His,ENST00000302969,NM_001004730.1;OR2AH1P,downstream_gene_variant,,ENST00000425717,;	uc010rjm.1	c.701G>A	725/1026	1	1			c.701G>A						11	SNP	c.(700-702)CGC>CAC	51	51				0	Broad	olfactory receptor, family 5, subfamily AR,			56431862		0.483	ENSG00000172459	10954	g.chr11:56431862G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							292.942998	KEEP	45	65	-1	69	74	45	65	-1	294.067119	69	74	0.42616	1	0	0	0	0	1	0	0	0	--	--		0	A				89	GBM-06-2567-TP	p.R234H	G	GCTGAAGGCCGCCTTAAGGCT	NM_001004730	NP_001004730	56431862	Q8NGP9	O5AR1_HUMAN	0			1	701	+	A	A			Missense_Mutation	234			Cytoplasmic (Potential).			
OR5AR1	0	broad.mit.edu	GRCh37	11	56431699	56431699	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs138342920		TCGA-14-0817-01	TCGA-14-0817-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302969.2:c.538G>A	p.Glu180Lys	p.E180K	ENST00000302969	NM_001004730.1	180	Gaa/Aaa	0		A:0.0008	1	A:0		A	E/K	uc010rjm.1	protein_coding	YES	CCDS31535.1			538/933										0	c.(538-540)GAA>AAA			Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF54,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily AR,		A:0.001		ENSP00000302639	A:0	1-Jan	9.06E-05	0.000192				7.49E-05		0.000242	rs138342920,COSM166712	1-Jan	.		ENST00000302969	Transcript		A:0.0004	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000172459	g.chr11:56431699G>A	15260			MODERATE		2.265	medium	getma.org/?cm=msa&ty=f&p=O5AR1_HUMAN&rb=139&re=283&var=E180K	NA	getma.org/?cm=var&var=hg19,11,56431699,G,A&fts=all	E180K	--	--	1																																			0,1	1		possibly_damaging(0.887)	p.E180K	NM_001004730	NP_001004730	A:0	deleterious(0)	0,1	O5AR1_HUMAN	OR5AR1	HGNC	Q8NGP9	O5AR1_HUMAN			B9EIN0_HUMAN		1	538	+			UPI0000041C93	180			Extracellular (Potential).		SNV	OR5AR1,missense_variant,p.Glu180Lys,ENST00000302969,NM_001004730.1;OR2AH1P,downstream_gene_variant,,ENST00000425717,;	uc010rjm.1	c.538G>A	562/1026	2	2			c.538G>A						11	SNP	c.(538-540)GAA>AAA	33	33				0	Broad	olfactory receptor, family 5, subfamily AR,			56431699		0.483	ENSG00000172459	10954	g.chr11:56431699G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							105.452027	KEEP	27	25	-1	90	70	27	25	-1	118.50045	90	70	0.226316	1	0	0	0	0	1	0	0	0	--	--		0	A				139	GBM-14-0817-TP	p.E180K	G	TTTCTTCTGCGAAATCCCACC	NM_001004730	NP_001004730	56431699	Q8NGP9	O5AR1_HUMAN	0			1	538	+	A	A			Missense_Mutation	180			Extracellular (Potential).			
OR5AR1	0	broad.mit.edu	GRCh37	11	56431364	56431364	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-14-0871-01	TCGA-14-0871-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302969.2:c.203T>G	p.Phe68Cys	p.F68C	ENST00000302969	NM_001004730.1	68	tTt/tGt	0			1			G	F/C	uc010rjm.1	protein_coding	YES	CCDS31535.1			203/933										0	c.(202-204)TTT>TGT			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF54,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 5, subfamily AR,				ENSP00000302639		1-Jan									COSM3397857	1-Jan	.		ENST00000302969	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000172459	g.chr11:56431364T>G	15260			MODERATE		2.43	medium	getma.org/?cm=msa&ty=f&p=O5AR1_HUMAN&rb=1&re=138&var=F68C	getma.org/pdb.php?prot=O5AR1_HUMAN&from=1&to=138&var=F68C	getma.org/?cm=var&var=hg19,11,56431364,T,G&fts=all	F68C	--	--	1																																			1	1		possibly_damaging(0.714)	p.F68C	NM_001004730	NP_001004730		deleterious(0)	1	O5AR1_HUMAN	OR5AR1	HGNC	Q8NGP9	O5AR1_HUMAN			B9EIN0_HUMAN		1	203	+			UPI0000041C93	68			Helical; Name=2; (Potential).		SNV	OR5AR1,missense_variant,p.Phe68Cys,ENST00000302969,NM_001004730.1;	uc010rjm.1	c.203T>G	227/1026	3	3			c.203T>G						11	SNP	c.(202-204)TTT>TGT	55	55				0	Broad	olfactory receptor, family 5, subfamily AR,			56431364		0.463	ENSG00000172459	10954	g.chr11:56431364T>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							503.995676	KEEP	86	74	-1	176	145	86	74	-1	515.211154	176	145	0.331081	1	0	0	0	0	1	0	0	0	--	--		0	G				141	GBM-14-0871-TP	p.F68C	T	AACCTCTCCTTTGTTGACCTG	NM_001004730	NP_001004730	56431364	Q8NGP9	O5AR1_HUMAN	0			1	203	+	G	G			Missense_Mutation	68			Helical; Name=2; (Potential).			
OR5AR1	219493		GRCh37	11	56431356	56431356	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000302969.2:c.195C>A	p.Asn65Lys	p.N65K	ENST00000302969	NM_001004730.1	65	aaC/aaA	0																																																																																																																																																																																																																																												
OR5AR1	219493		GRCh37	11	56431688	56431688	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000302969.2:c.527A>G	p.His176Arg	p.H176R	ENST00000302969	NM_001004730.1	176	cAt/cGt	0																																																																																																																																																																																																																																												
OR5AS1	219447	broad.mit.edu	GRCh37	11	55798090	55798090	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0747-01	TCGA-06-0747-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313555.1:c.196T>G	p.Leu66Val	p.L66V	ENST00000313555	NM_001001921.1	66	Tta/Gta	0			1			G	L/V	uc010riw.1	protein_coding	YES	CCDS31516.1			196/975									ovary(3)|liver(1)|skin(1)	5	c.(196-198)TTA>GTA			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF153,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 5, subfamily AS,				ENSP00000324111		1-Jan									COSM2151810	1-Jan	.		ENST00000313555	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000181785	g.chr11:55798090T>G	15261			MODERATE		3.645	high	getma.org/?cm=msa&ty=f&p=O5AS1_HUMAN&rb=1&re=138&var=L66V	getma.org/pdb.php?prot=O5AS1_HUMAN&from=1&to=138&var=L66V	getma.org/?cm=var&var=hg19,11,55798090,T,G&fts=all	L66V	--	--	1																																			1	1		probably_damaging(0.996)	p.L66V	NM_001001921	NP_001001921		deleterious(0)	1	O5AS1_HUMAN	OR5AS1	HGNC	Q8N127	O5AS1_HUMAN					1	196	+	Esophageal squamous(21;0.00693)		UPI000004B1FB	66			Helical; Name=2; (Potential).		SNV	OR5AS1,missense_variant,p.Leu66Val,ENST00000313555,NM_001001921.1;	uc010riw.1	c.196T>G	196/975	3	3			c.196T>G						11	SNP	c.(196-198)TTA>GTA	16	16			ovary(3)|liver(1)|skin(1)	5	Broad	olfactory receptor, family 5, subfamily AS,			55798090		0.348	ENSG00000181785	10955	g.chr11:55798090T>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							152.293723	KEEP	31	18	-1	35	25	31	18	-1	152.460929	35	25	0.457143	1	0	0	0	0	1	0	0	0	--	--		0	G				68	GBM-06-0747-TP	p.L66V	T	TCTTAGCAACTTATCTTTCTT	NM_001001921	NP_001001921	55798090	Q8N127	O5AS1_HUMAN	0			1	196	+	G	G	Esophageal squamous(21;0.00693)		Missense_Mutation	66			Helical; Name=2; (Potential).			
OR5AS1	219447		GRCh37	11	55798503	55798503	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000313555.1:c.609C>T	p.Cys203=	p.C203=	ENST00000313555	NM_001001921.1	203	tgC/tgT	0																																																																																																																																																																																																																																												
OR5AU1	0	broad.mit.edu	GRCh37	14	21623219	21623219	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6391-01	TCGA-06-6391-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304418.3:c.966C>T	p.Asp322=	p.D322=	ENST00000304418	NM_001004731.1	322	gaC/gaT	0			1			A	D	uc010tlp.1	protein_coding	YES	CCDS32042.1			966/1089									central_nervous_system(1)	1	c.(964-966)GAC>GAT			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF186,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily AU,				ENSP00000302057		1-Jan										1-Jan	.		ENST00000304418	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000169327	g.chr14:21623219G>A	15362			LOW								--	--	1																																				1			p.D322D	NM_001004731	NP_001004731				O5AU1_HUMAN	OR5AU1	HGNC	Q8NGC0	O5AU1_HUMAN	Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)			1	966	-	all_cancers(95;0.00238)		UPI000015F240	322			Extracellular (Potential).		SNV	OR5AU1,synonymous_variant,p.=,ENST00000304418,NM_001004731.1;	uc010tlp.1	c.966C>T	1004/1197	2	2			c.966C>T						14	SNP	c.(964-966)GAC>GAT	30	30			central_nervous_system(1)	1	Broad	olfactory receptor, family 5, subfamily AU,			21623219		0.493	ENSG00000169327	10956	g.chr14:21623219G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							18.258056	KEEP	4	11	-1	53	50	4	11	-1	31.599735	53	50	0.135922	1	0	0	0	0	0	0	1	0	--	--		0	A				107	GBM-06-6391-TP	p.D322D	G	CAACTGTGCGGTCCTGGGTCA	NM_001004731	NP_001004731	21623219	Q8NGC0	O5AU1_HUMAN	0	Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)	1	966	-	A	A	all_cancers(95;0.00238)		Silent	322			Extracellular (Potential).			
OR5B12	390191	broad.mit.edu	GRCh37	11	58207194	58207194	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-02-2483-01	TCGA-02-2483-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302572.2:c.431T>C	p.Ile144Thr	p.I144T	ENST00000302572	NM_001004733.2	144	aTa/aCa	0			1			G	I/T	uc010rkh.1	protein_coding	YES	CCDS31551.1			431/945										0	c.(430-432)ATA>ACA			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF181,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily B,				ENSP00000306657		1-Jan									COSM3397894	1-Jan	.		ENST00000302572	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000172362	g.chr11:58207194A>G	15432			MODERATE		0.27	neutral	getma.org/?cm=msa&ty=f&p=OR5BC_HUMAN&rb=137&re=281&var=I144T	NA	getma.org/?cm=var&var=hg19,11,58207194,A,G&fts=all	I144T	--	--	1																																			1	1		benign(0.039)	p.I144T	NM_001004733	NP_001004733		tolerated_low_confidence(0.32)	1	OR5BC_HUMAN	OR5B12	HGNC	Q96R08	OR5BC_HUMAN					1	431	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	UPI00000015B2	144			Helical; Name=4; (Potential).		SNV	OR5B12,missense_variant,p.Ile144Thr,ENST00000302572,NM_001004733.2;	uc010rkh.1	c.431T>C	453/1054	3	3			c.431T>C						11	SNP	c.(430-432)ATA>ACA	57	57				0	Broad	olfactory receptor, family 5, subfamily B,			58207194		0.463	ENSG00000172362	10957	g.chr11:58207194A>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-3.697523	KEEP	3	7	-1	62	91	3	7	-1	21.823809	62	91	0.0625	1	0	0	0	0	1	0	0	0	--	--		0	G				6	GBM-02-2483-TP	p.I144T	A	GTAGGAGCCTATGGCCAGGCA	NM_001004733	NP_001004733	58207194	Q96R08	OR5BC_HUMAN	0			1	431	-	G	G	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	Missense_Mutation	144			Helical; Name=4; (Potential).			
OR5B17	219965	broad.mit.edu	GRCh37	11	58125932	58125932	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0122-01	TCGA-06-0122-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357377.3:c.611del	p.Asn204MetfsTer10	p.N204Mfs*10	ENST00000357377	NM_001005489.1	204	aAt/at	0			1			-	N/X	uc010rke.1	protein_coding	YES	CCDS31548.1			611/945									ovary(2)|skin(1)	3	c.(610-612)AATfs			Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF185,PROSITE_profiles:PS50262	olfactory receptor, family 5, subfamily B,				ENSP00000349945		1-Jan									COSM2149207	1-Jan	.		ENST00000357377	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000197786	g.chr11:58125932delT	15267			HIGH								--	--	1																																			1	1			p.N204fs	NM_001005489	NP_001005489			1	OR5BH_HUMAN	OR5B17	HGNC	Q8NGF7	OR5BH_HUMAN					1	611	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	UPI0000041DFA	204			Helical; Name=5; (Potential).		deletion	OR5B17,frameshift_variant,p.Asn204MetfsTer10,ENST00000357377,NM_001005489.1;AP000435.3,upstream_gene_variant,,ENST00000528539,;	uc010rke.1	c.611delA	611/946	5	5			c.611delA						11	DEL	c.(610-612)AATfs	7	7			ovary(2)|skin(1)	3	Broad	olfactory receptor, family 5, subfamily B,			58125932		0.368	ENSG00000197786	10958	g.chr11:58125932delT	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity																				0.28	1	1	0	1	0	0	0	0	0	--	--		0	-				10	GBM-06-0122-TP	p.N204fs	T	AAAAAAGACATTAAAACTTGA	NM_001005489	NP_001005489	58125932	Q8NGF7	OR5BH_HUMAN	0			1	611	-	-	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	Frame_Shift_Del	204			Helical; Name=5; (Potential).			
OR5B17	0	broad.mit.edu	GRCh37	11	58126152	58126152	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-41-3392-01	TCGA-41-3392-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357377.3:c.391A>G	p.Thr131Ala	p.T131A	ENST00000357377	NM_001005489.1	131	Acc/Gcc	0			1			C	T/A	uc010rke.1	protein_coding	YES	CCDS31548.1			391/945									ovary(2)|skin(1)	3	c.(391-393)ACC>GCC			Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF185,PROSITE_profiles:PS50262	olfactory receptor, family 5, subfamily B,				ENSP00000349945		1-Jan									COSM3747886	1-Jan	.		ENST00000357377	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000197786	g.chr11:58126152T>C	15267			MODERATE		0.88	low	getma.org/?cm=msa&ty=f&p=OR5BH_HUMAN&rb=1&re=136&var=T131A	getma.org/pdb.php?prot=OR5BH_HUMAN&from=1&to=136&var=T131A	getma.org/?cm=var&var=hg19,11,58126152,T,C&fts=all	T131A	--	--	1																																			1	1		benign(0.139)	p.T131A	NM_001005489	NP_001005489		tolerated_low_confidence(0.2)	1	OR5BH_HUMAN	OR5B17	HGNC	Q8NGF7	OR5BH_HUMAN					1	391	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	UPI0000041DFA	131			Cytoplasmic (Potential).		SNV	OR5B17,missense_variant,p.Thr131Ala,ENST00000357377,NM_001005489.1;AP000435.3,upstream_gene_variant,,ENST00000528539,;	uc010rke.1	c.391A>G	391/946	3	3			c.391A>G						11	SNP	c.(391-393)ACC>GCC	15	15			ovary(2)|skin(1)	3	Broad	olfactory receptor, family 5, subfamily B,			58126152		0.448	ENSG00000197786	10958	g.chr11:58126152T>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							97.854677	KEEP	16	19	-1	37	36	16	19	-1	100.10322	37	36	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	C				254	GBM-41-3392-TP	p.T131A	T	ATGGTGGTGGTATAATGTAGG	NM_001005489	NP_001005489	58126152	Q8NGF7	OR5BH_HUMAN	0			1	391	-	C	C	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	Missense_Mutation	131			Cytoplasmic (Potential).			
OR5B2	0	broad.mit.edu	GRCh37	11	58189829	58189829	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-16-1045-01	TCGA-16-1045-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302581.2:c.906G>T	p.Val302=	p.V302=	ENST00000302581	NM_001005566.2	302	gtG/gtT	0			1			A	V	uc010rkg.1	protein_coding	YES	CCDS31550.1			906/930									ovary(3)	3	c.(904-906)GTG>GTT			Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF3,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily B,				ENSP00000303076		1-Jan									COSM3397893	1-Jan	.		ENST00000302581	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000172365	g.chr11:58189829C>A	8323			LOW								--	--	1																																			1	1			p.V302V	NM_001005566	NP_001005566			1	OR5B2_HUMAN	OR5B2	HGNC	Q96R09	OR5B2_HUMAN					1	906	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	UPI000004B227	302			Cytoplasmic (Potential).		SNV	OR5B2,synonymous_variant,p.=,ENST00000302581,NM_001005566.2;	uc010rkg.1	c.906G>T	958/1049	1	1			c.906G>T						11	SNP	c.(904-906)GTG>GTT	61	61			ovary(3)	3	Broad	olfactory receptor, family 5, subfamily B,			58189829		0.383	ENSG00000172365	10959	g.chr11:58189829C>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-25.631086	KEEP	4	0	-1	82	71	4	0	-1	8.337598	82	71	0.028777	1	0	0	0	0	0	0	1	0	--	--		0	A				157	GBM-16-1045-TP	p.V302V	C	GCCTTCTCAACACTTTCTTGA	NM_001005566	NP_001005566	58189829	Q96R09	OR5B2_HUMAN	0			1	906	-	A	A	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	Silent	302			Cytoplasmic (Potential).			
OR5B3	0	broad.mit.edu	GRCh37	11	58170525	58170525	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01	TCGA-19-5952-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309403.2:c.358C>T	p.Arg120Cys	p.R120C	ENST00000309403	NM_001005469.1	120	Cgc/Tgc	0			1			A	R/C	uc010rkf.1	protein_coding	YES	CCDS31549.1			358/945										0	c.(358-360)CGC>TGC			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF15,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily B,				ENSP00000308270		1-Jan	3.29E-05	9.61E-05	8.68E-05			3.00E-05			rs753880371,COSM2156690	1-Jan	.		ENST00000309403	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000172769	g.chr11:58170525G>A	8324			MODERATE		2.895	medium	getma.org/?cm=msa&ty=f&p=OR5B3_HUMAN&rb=1&re=136&var=R120C	NA	getma.org/?cm=var&var=hg19,11,58170525,G,A&fts=all	R120C	--	--	1																																			0,1	1		benign(0.308)	p.R120C	NM_001005469	NP_001005469		deleterious_low_confidence(0.02)	0,1	OR5B3_HUMAN	OR5B3	HGNC	Q8NH48	OR5B3_HUMAN					1	358	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	UPI0000041DD0	120			Cytoplasmic (Potential).		SNV	OR5B3,missense_variant,p.Arg120Cys,ENST00000309403,NM_001005469.1;	uc010rkf.1	c.358C>T	358/946	2	2			c.358C>T						11	SNP	c.(358-360)CGC>TGC	47	47				0	Broad	olfactory receptor, family 5, subfamily B,			58170525		0.468	ENSG00000172769	10961	g.chr11:58170525G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							168.847827	KEEP	25	29	-1	49	37	25	29	-1	170.29584	49	37	0.389706	1	0	0	0	0	1	0	0	0	--	--		0	A				172	GBM-19-5952-TP	p.R120C	G	GCTGCATAGCGGTCATAGGCC	NM_001005469	NP_001005469	58170525	Q8NH48	OR5B3_HUMAN	0			1	358	-	A	A	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	Missense_Mutation	120			Cytoplasmic (Potential).			
OR5B3	441608		GRCh37	11	58170350	58170350	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000309403.2:c.533A>T	p.Asp178Val	p.D178V	ENST00000309403	NM_001005469.1	178	gAt/gTt	0																																																																																																																																																																																																																																												
OR5C1	392391	broad.mit.edu	GRCh37	9	125551633	125551633	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01	TCGA-06-0166-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373680.2:c.422C>T	p.Ser141Leu	p.S141L	ENST00000373680	NM_001001923.1	141	tCg/tTg	0		T:0	1	T:0		T	S/L	uc011lzd.1	protein_coding	YES	CCDS35131.1			422/963									pancreas(1)	1	c.(421-423)TCG>TTG			Gene3D:1.20.1070.10,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF119,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily C,		T:0.001		ENSP00000362784	T:0	1-Jan	0.000313		0.000346	0.000462	0.00363	9.00E-05			rs201245954,COSM1104900	1-Jan	common_variant		ENST00000373680	Transcript		T:0.0002	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000148215	g.chr9:125551633C>T	8331			MODERATE		2.795	medium	getma.org/?cm=msa&ty=f&p=OR5C1_HUMAN&rb=1&re=142&var=S141L	NA	getma.org/?cm=var&var=hg19,9,125551633,C,T&fts=all	S141L	--	--	1																																			0,1	1		probably_damaging(0.922)	p.S141L	NM_001001923	NP_001001923	T:0	deleterious(0)	0,1	OR5C1_HUMAN	OR5C1	HGNC	Q8NGR4	OR5C1_HUMAN			Q6IFM9_HUMAN		1	422	+			UPI0000061E7B	141			Cytoplasmic (Potential).		SNV	OR5C1,missense_variant,p.Ser141Leu,ENST00000373680,NM_001001923.1;	uc011lzd.1	c.422C>T	484/1088	2	2			c.422C>T						9	SNP	c.(421-423)TCG>TTG	47	47			pancreas(1)	1	Broad	olfactory receptor, family 5, subfamily C,			125551633		0.572	ENSG00000148215	10962	g.chr9:125551633C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-41.252233	KEEP	5	0	-1	99	102	5	0	-1	7.202395	99	102	0.021164	1	0	0	0	0	1	0	0	0	--	--		0	T				31	GBM-06-0166-TP	p.S141L	C	ACAGCTATGTCGCAGCGTCTA	NM_001001923	NP_001001923	125551633	Q8NGR4	OR5C1_HUMAN	0			1	422	+	T	T			Missense_Mutation	141			Cytoplasmic (Potential).			
OR5D13	390142	broad.mit.edu	GRCh37	11	55541619	55541619	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361760.1:c.706C>T	p.Arg236Cys	p.R236C	ENST00000361760	NM_001001967.1	236	Cgc/Tgc	0	T:0		1			T	R/C	uc010ril.1	protein_coding	YES	CCDS31507.1			706/945									ovary(1)|pancreas(1)|skin(1)	3	c.(706-708)CGC>TGC			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF210,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily D,			T:0.0001	ENSP00000354800		1-Jan	3.29E-05	9.62E-05				4.50E-05			rs369729738,COSM1298139	1-Jan	.		ENST00000361760	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000198877	g.chr11:55541619C>T	15280			MODERATE		3.23	medium	getma.org/?cm=msa&ty=f&p=OR5DD_HUMAN&rb=141&re=285&var=R236C	NA	getma.org/?cm=var&var=hg19,11,55541619,C,T&fts=all	R236C	--	--	1																																			0,1	1		benign(0.082)	p.R236C	NM_001001967	NP_001001967		tolerated(0.07)	0,1	OR5DD_HUMAN	OR5D13	HGNC	Q8NGL4	OR5DD_HUMAN					1	706	+		all_epithelial(135;0.196)	UPI0000041C36	236			Cytoplasmic (Potential).		SNV	OR5D13,missense_variant,p.Arg236Cys,ENST00000361760,NM_001001967.1;	uc010ril.1	c.706C>T	706/945	1	1			c.706C>T						11	SNP	c.(706-708)CGC>TGC	6	6			ovary(1)|pancreas(1)|skin(1)	3	Broad	olfactory receptor, family 5, subfamily D,			55541619		0.408	ENSG00000198877	10963	g.chr11:55541619C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							134.891565	KEEP	26	30	-1	72	67	26	30	-1	142.929876	72	67	0.281915	1	0	0	0	0	1	0	0	0	--	--		0	T				5	GBM-02-2470-TP	p.R236C	C	TGCAAGTGGGCGCCAGAAAAC	NM_001001967	NP_001001967	55541619	Q8NGL4	OR5DD_HUMAN	0			1	706	+	T	T		all_epithelial(135;0.196)	Missense_Mutation	236			Cytoplasmic (Potential).			
OR5D13	390142	broad.mit.edu	GRCh37	11	55541191	55541191	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0189-01	TCGA-06-0189-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361760.1:c.278C>A	p.Thr93Asn	p.T93N	ENST00000361760	NM_001001967.1	93	aCc/aAc	0			1			A	T/N	uc010ril.1	protein_coding	YES	CCDS31507.1			278/945									ovary(1)|pancreas(1)|skin(1)	3	c.(277-279)ACC>AAC			Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF210,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily D,				ENSP00000354800		1-Jan									COSM3397790	1-Jan	.		ENST00000361760	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000198877	g.chr11:55541191C>A	15280			MODERATE		2.195	medium	getma.org/?cm=msa&ty=f&p=OR5DD_HUMAN&rb=1&re=140&var=T93N	getma.org/pdb.php?prot=OR5DD_HUMAN&from=1&to=140&var=T93N	getma.org/?cm=var&var=hg19,11,55541191,C,A&fts=all	T93N	--	--	1																																			1	1		benign(0.077)	p.T93N	NM_001001967	NP_001001967		deleterious(0.02)	1	OR5DD_HUMAN	OR5D13	HGNC	Q8NGL4	OR5DD_HUMAN					1	278	+		all_epithelial(135;0.196)	UPI0000041C36	93			Extracellular (Potential).		SNV	OR5D13,missense_variant,p.Thr93Asn,ENST00000361760,NM_001001967.1;	uc010ril.1	c.278C>A	278/945	2	2			c.278C>A						11	SNP	c.(277-279)ACC>AAC	29	29			ovary(1)|pancreas(1)|skin(1)	3	Broad	olfactory receptor, family 5, subfamily D,			55541191		0.398	ENSG00000198877	10963	g.chr11:55541191C>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-1.168153	KEEP	13	14	0.518518519	157	173	13	14	0.518518519	59.166717	157	173	0.07622	1	0	0	0	0	1	0	0	0	--	--		0	A				42	GBM-06-0189-TP	p.T93N	C	GAATACAGAACCATCTCTTTC	NM_001001967	NP_001001967	55541191	Q8NGL4	OR5DD_HUMAN	0			1	278	+	A	A		all_epithelial(135;0.196)	Missense_Mutation	93			Extracellular (Potential).			
OR5D13	390142	broad.mit.edu	GRCh37	11	55541628	55541628	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0877-01	TCGA-06-0877-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361760.1:c.715A>T	p.Thr239Ser	p.T239S	ENST00000361760	NM_001001967.1	239	Act/Tct	0			1			T	T/S	uc010ril.1	protein_coding	YES	CCDS31507.1			715/945									ovary(1)|pancreas(1)|skin(1)	3	c.(715-717)ACT>TCT			Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF210,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily D,				ENSP00000354800		1-Jan									COSM2152202	1-Jan	.		ENST00000361760	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000198877	g.chr11:55541628A>T	15280			MODERATE		0.995	low	getma.org/?cm=msa&ty=f&p=OR5DD_HUMAN&rb=141&re=285&var=T239S	NA	getma.org/?cm=var&var=hg19,11,55541628,A,T&fts=all	T239S	--	--	1																																			1	1		benign(0.216)	p.T239S	NM_001001967	NP_001001967		deleterious(0.01)	1	OR5DD_HUMAN	OR5D13	HGNC	Q8NGL4	OR5DD_HUMAN					1	715	+		all_epithelial(135;0.196)	UPI0000041C36	239			Cytoplasmic (Potential).		SNV	OR5D13,missense_variant,p.Thr239Ser,ENST00000361760,NM_001001967.1;	uc010ril.1	c.715A>T	715/945	2	2			c.715A>T						11	SNP	c.(715-717)ACT>TCT	35	35			ovary(1)|pancreas(1)|skin(1)	3	Broad	olfactory receptor, family 5, subfamily D,			55541628		0.418	ENSG00000198877	10963	g.chr11:55541628A>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							176.867063	KEEP	32	38	-1	69	53	32	38	-1	179.783608	69	53	0.362069	1	0	0	0	0	1	0	0	0	--	--		0	T				73	GBM-06-0877-TP	p.T239S	A	GCGCCAGAAAACTTTCTCCAC	NM_001001967	NP_001001967	55541628	Q8NGL4	OR5DD_HUMAN	0			1	715	+	T	T		all_epithelial(135;0.196)	Missense_Mutation	239			Cytoplasmic (Potential).			
OR5D13	0	broad.mit.edu	GRCh37	11	55541269	55541269	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01	TCGA-14-2554-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361760.1:c.356C>T	p.Ala119Val	p.A119V	ENST00000361760	NM_001001967.1	119	gCg/gTg	0			1			T	A/V	uc010ril.1	protein_coding	YES	CCDS31507.1			356/945									ovary(1)|pancreas(1)|skin(1)	3	c.(355-357)GCG>GTG			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF210,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 5, subfamily D,				ENSP00000354800		1-Jan	1.65E-05		8.68E-05	0.000116					rs750305125,COSM3397791	1-Jan	.		ENST00000361760	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000198877	g.chr11:55541269C>T	15280			MODERATE		-1.32	neutral	getma.org/?cm=msa&ty=f&p=OR5DD_HUMAN&rb=1&re=140&var=A119V	getma.org/pdb.php?prot=OR5DD_HUMAN&from=1&to=140&var=A119V	getma.org/?cm=var&var=hg19,11,55541269,C,T&fts=all	A119V	--	--	1																																			0,1	1		benign(0.001)	p.A119V	NM_001001967	NP_001001967		tolerated(1)	0,1	OR5DD_HUMAN	OR5D13	HGNC	Q8NGL4	OR5DD_HUMAN					1	356	+		all_epithelial(135;0.196)	UPI0000041C36	119			Helical; Name=3; (Potential).		SNV	OR5D13,missense_variant,p.Ala119Val,ENST00000361760,NM_001001967.1;	uc010ril.1	c.356C>T	356/945	2	2			c.356C>T						11	SNP	c.(355-357)GCG>GTG	48	48			ovary(1)|pancreas(1)|skin(1)	3	Broad	olfactory receptor, family 5, subfamily D,			55541269		0.423	ENSG00000198877	10963	g.chr11:55541269C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							317.028756	KEEP	69	69	-1	144	132	69	69	-1	328.467217	144	132	0.312329	1	0	0	0	0	1	0	0	0	--	--		0	T				150	GBM-14-2554-TP	p.A119V	C	ATGTTAGCAGCGATGGCTTAT	NM_001001967	NP_001001967	55541269	Q8NGL4	OR5DD_HUMAN	0			1	356	+	T	T		all_epithelial(135;0.196)	Missense_Mutation	119			Helical; Name=3; (Potential).			
OR5D13	390142		GRCh37	11	55541619	55541619	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000361760.1:c.706C>T	p.Arg236Cys	p.R236C	ENST00000361760	NM_001001967.1	236	Cgc/Tgc	0																																																																																																																																																																																																																																												
OR5D14	0	broad.mit.edu	GRCh37	11	55563704	55563704	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335605.1:c.673G>C	p.Val225Leu	p.V225L	ENST00000335605	NM_001004735.1	225	Gtg/Ctg	0			1			C	V/L	uc010rim.1	protein_coding	YES	CCDS31508.1			673/945									ovary(2)|central_nervous_system(1)	3	c.(673-675)GTG>CTG			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF67,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 5, subfamily D,				ENSP00000334456		1-Jan									COSM2156113	1-Jan	.		ENST00000335605	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000186113	g.chr11:55563704G>C	15281			MODERATE		0.84	low	getma.org/?cm=msa&ty=f&p=OR5DE_HUMAN&rb=141&re=285&var=V225L	NA	getma.org/?cm=var&var=hg19,11,55563704,G,C&fts=all	V225L	--	--	1																																			1	1		benign(0.208)	p.V225L	NM_001004735	NP_001004735		deleterious(0.05)	1	OR5DE_HUMAN	OR5D14	HGNC	Q8NGL3	OR5DE_HUMAN					1	673	+		all_epithelial(135;0.196)	UPI000004B1F6	225			Cytoplasmic (Potential).		SNV	OR5D14,missense_variant,p.Val225Leu,ENST00000335605,NM_001004735.1;	uc010rim.1	c.673G>C	673/945	3	3			c.673G>C						11	SNP	c.(673-675)GTG>CTG	49	49			ovary(2)|central_nervous_system(1)	3	Broad	olfactory receptor, family 5, subfamily D,			55563704		0.478	ENSG00000186113	10964	g.chr11:55563704G>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							184.239159	KEEP	25	38	-1	76	111	25	38	-1	196.893445	76	111	0.253275	1	0	0	0	0	1	0	0	0	--	--		0	C				160	GBM-19-1790-TP	p.V225L	G	TTTCATTTTTGTGACTGTACT	NM_001004735	NP_001004735	55563704	Q8NGL3	OR5DE_HUMAN	0			1	673	+	C	C		all_epithelial(135;0.196)	Missense_Mutation	225			Cytoplasmic (Potential).			
OR5D14	0	broad.mit.edu	GRCh37	11	55563770	55563770	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-28-2513-01	TCGA-28-2513-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335605.1:c.739C>A	p.Leu247Met	p.L247M	ENST00000335605	NM_001004735.1	247	Ctg/Atg	0			1			A	L/M	uc010rim.1	protein_coding	YES	CCDS31508.1			739/945									ovary(2)|central_nervous_system(1)	3	c.(739-741)CTG>ATG			Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF67,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 5, subfamily D,				ENSP00000334456		1-Jan									COSM3397792	1-Jan	.		ENST00000335605	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000186113	g.chr11:55563770C>A	15281			MODERATE		2.75	medium	getma.org/?cm=msa&ty=f&p=OR5DE_HUMAN&rb=141&re=285&var=L247M	NA	getma.org/?cm=var&var=hg19,11,55563770,C,A&fts=all	L247M	--	--	1																																			1	1		probably_damaging(0.941)	p.L247M	NM_001004735	NP_001004735		deleterious(0.02)	1	OR5DE_HUMAN	OR5D14	HGNC	Q8NGL3	OR5DE_HUMAN					1	739	+		all_epithelial(135;0.196)	UPI000004B1F6	247			Helical; Name=6; (Potential).		SNV	OR5D14,missense_variant,p.Leu247Met,ENST00000335605,NM_001004735.1;	uc010rim.1	c.739C>A	739/945	1	1			c.739C>A						11	SNP	c.(739-741)CTG>ATG	63	63			ovary(2)|central_nervous_system(1)	3	Broad	olfactory receptor, family 5, subfamily D,			55563770		0.453	ENSG00000186113	10964	g.chr11:55563770C>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							10.370243	KEEP	7	9	0.5625	58	93	7	9	0.5625	35.95474	58	93	0.1	1	0	0	0	0	1	0	0	0	--	--		0	A				213	GBM-28-2513-TP	p.L247M	C	GGCCTCCCACCTGACTTCTAT	NM_001004735	NP_001004735	55563770	Q8NGL3	OR5DE_HUMAN	0			1	739	+	A	A		all_epithelial(135;0.196)	Missense_Mutation	247			Helical; Name=6; (Potential).			
OR5D14	0	broad.mit.edu	GRCh37	11	55563722	55563722	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs143761060		TCGA-76-6191-01	TCGA-76-6191-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335605.1:c.691C>T	p.Arg231Cys	p.R231C	ENST00000335605	NM_001004735.1	231	Cgt/Tgt	0	T:0.0002	T:0	1	T:0		T	R/C	uc010rim.1	protein_coding	YES	CCDS31508.1			691/945									ovary(2)|central_nervous_system(1)	3	c.(691-693)CGT>TGT			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF67,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily D,		T:0	T:0	ENSP00000334456	T:0	1-Jan	8.24E-05	0.000192				8.99E-05		0.000121	rs143761060	1-Jan	.		ENST00000335605	Transcript		T:0.0002	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000186113	g.chr11:55563722C>T	15281			MODERATE		1.97	medium	getma.org/?cm=msa&ty=f&p=OR5DE_HUMAN&rb=141&re=285&var=R231C	NA	getma.org/?cm=var&var=hg19,11,55563722,C,T&fts=all	R231C	--	--	1																																				1		benign(0.008)	p.R231C	NM_001004735	NP_001004735	T:0.001	tolerated(0.09)		OR5DE_HUMAN	OR5D14	HGNC	Q8NGL3	OR5DE_HUMAN					1	691	+		all_epithelial(135;0.196)	UPI000004B1F6	231			Cytoplasmic (Potential).		SNV	OR5D14,missense_variant,p.Arg231Cys,ENST00000335605,NM_001004735.1;	uc010rim.1	c.691C>T	691/945	2	2			c.691C>T						11	SNP	c.(691-693)CGT>TGT	19	19			ovary(2)|central_nervous_system(1)	3	Broad	olfactory receptor, family 5, subfamily D,			55563722		0.473	ENSG00000186113	10964	g.chr11:55563722C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							140.789516	KEEP	24	21	-1	24	39	24	21	-1	141.324825	24	39	0.423077	1	0	0	0	0	1	0	0	0	--	--		0	T				274	GBM-76-6191-TP	p.R231C	C	ACTAAAAATCCGTTCTGTTAG	NM_001004735	NP_001004735	55563722	Q8NGL3	OR5DE_HUMAN	0			1	691	+	T	T		all_epithelial(135;0.196)	Missense_Mutation	231			Cytoplasmic (Potential).			
OR5D16	390144	broad.mit.edu	GRCh37	11	55606937	55606937	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs148616685		TCGA-06-0648-01	TCGA-06-0648-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378396.1:c.710G>A	p.Arg237His	p.R237H	ENST00000378396	NM_001005496.1	237	cGc/cAc	0	A:0	A:0	1	A:0.0014		A	R/H	uc010rio.1	protein_coding	YES	CCDS31512.1			710/987									ovary(4)|skin(1)	5	c.(709-711)CGC>CAC			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF243,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily D,		A:0	A:0.0001	ENSP00000367649	A:0	1-Jan	3.29E-05		8.68E-05	0.000116		3.00E-05			rs148616685,COSM3397801	1-Jan	.		ENST00000378396	Transcript		A:0.0002	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000205029	g.chr11:55606937G>A	15283			MODERATE		0.195	neutral	getma.org/?cm=msa&ty=f&p=OR5DG_HUMAN&rb=141&re=285&var=R237H	NA	getma.org/?cm=var&var=hg19,11,55606937,G,A&fts=all	R237H	--	--	1																																			0,1	1		benign(0.052)	p.R237H	NM_001005496	NP_001005496	A:0	tolerated(0.43)	0,1	OR5DG_HUMAN	OR5D16	HGNC	Q8NGK9	OR5DG_HUMAN					1	710	+		all_epithelial(135;0.208)	UPI0000046198	237			Cytoplasmic (Potential).		SNV	OR5D16,missense_variant,p.Arg237His,ENST00000378396,NM_001005496.1;	uc010rio.1	c.710G>A	710/987	2	2			c.710G>A						11	SNP	c.(709-711)CGC>CAC	48	48			ovary(4)|skin(1)	5	Broad	olfactory receptor, family 5, subfamily D,			55606937		0.488	ENSG00000205029	10965	g.chr11:55606937G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-36.842083	KEEP	1	3	-1	96	88	1	3	-1	6.671515	96	88	0.023256	1	0	0	0	0	1	0	0	0	--	--		0	A				61	GBM-06-0648-TP	p.R237H	G	AGTGGGCACCGCAAAGTCTTC	NM_001005496	NP_001005496	55606937	Q8NGK9	OR5DG_HUMAN	0			1	710	+	A	A		all_epithelial(135;0.208)	Missense_Mutation	237			Cytoplasmic (Potential).			
OR5D16	0	broad.mit.edu	GRCh37	11	55606713	55606713	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2623-01	TCGA-19-2623-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378396.1:c.486G>A	p.Ala162=	p.A162=	ENST00000378396	NM_001005496.1	162	gcG/gcA	0		A:0	1	A:0		A	A	uc010rio.1	protein_coding	YES	CCDS31512.1			486/987									ovary(4)|skin(1)	5	c.(484-486)GCG>GCA			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF243,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 5, subfamily D,		A:0		ENSP00000367649	A:0.001	1-Jan	2.47E-05			0.000116		3.00E-05			rs201981572,COSM3397799	1-Jan	.		ENST00000378396	Transcript		A:0.0002	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000205029	g.chr11:55606713G>A	15283			LOW								--	--	1																																			0,1	1			p.A162A	NM_001005496	NP_001005496	A:0		0,1	OR5DG_HUMAN	OR5D16	HGNC	Q8NGK9	OR5DG_HUMAN					1	486	+		all_epithelial(135;0.208)	UPI0000046198	162			Helical; Name=4; (Potential).		SNV	OR5D16,synonymous_variant,p.=,ENST00000378396,NM_001005496.1;	uc010rio.1	c.486G>A	486/987	2	2			c.486G>A						11	SNP	c.(484-486)GCG>GCA	18	18			ovary(4)|skin(1)	5	Broad	olfactory receptor, family 5, subfamily D,			55606713		0.453	ENSG00000205029	10965	g.chr11:55606713G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							164.058077	KEEP	31	22	-1	27	28	31	22	-1	164.060263	27	28	0.495327	1	0	0	0	0	0	0	1	0	--	--		0	A				163	GBM-19-2623-TP	p.A162A	G	TGACACTCGCGTGCTCTGCTT	NM_001005496	NP_001005496	55606713	Q8NGK9	OR5DG_HUMAN	0			1	486	+	A	A		all_epithelial(135;0.208)	Silent	162			Helical; Name=4; (Potential).			
OR5D16	0	broad.mit.edu	GRCh37	11	55606949	55606950	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	CACCT			TCGA-27-1838-01	TCGA-27-1838-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378396.1:c.723_727dupCACCT	p.Cys243SerfsTer7	p.C243Sfs*7	ENST00000378396	NM_001005496.1	241	tcc/tcCACCTc	0			1			CACCT	S/STX	uc010rio.1	protein_coding	YES	CCDS31512.1			722-723/987									ovary(4)|skin(1)	5	c.(721-723)TCCfs			Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF243,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 5, subfamily D,				ENSP00000367649		1-Jan										1-Jan	.		ENST00000378396	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000205029	g.chr11:55606949_55606950insCACCT	15283	5		HIGH								--	--	1																																				1			p.S241fs	NM_001005496	NP_001005496				OR5DG_HUMAN	OR5D16	HGNC	Q8NGK9	OR5DG_HUMAN					1	722_723	+		all_epithelial(135;0.208)	UPI0000046198	241			Helical; Name=6; (Potential).		insertion	OR5D16,frameshift_variant,p.Cys243SerfsTer7,ENST00000378396,NM_001005496.1;	uc010rio.1	c.722_723insCACCT	722-723/987	5	5			c.722_723insCACCT						11	INS	c.(721-723)TCCfs	52	52			ovary(4)|skin(1)	5	Broad	olfactory receptor, family 5, subfamily D,			55606950		0.49	ENSG00000205029	10965	g.chr11:55606949_55606950insCACCT	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity																				0.17	1	0	0	1	1	0	0	0	0	--	--		0	CACCT				197	GBM-27-1838-TP	p.S241fs	-	AAAGTCTTCTCCACCTGTGCCT	NM_001005496	NP_001005496	55606949	Q8NGK9	OR5DG_HUMAN	0			1	722_723	+	CACCT	CACCT		all_epithelial(135;0.208)	Frame_Shift_Ins	241			Helical; Name=6; (Potential).			
OR5D16	0	broad.mit.edu	GRCh37	11	55606713	55606713	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5208-01	TCGA-28-5208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378396.1:c.486G>A	p.Ala162=	p.A162=	ENST00000378396	NM_001005496.1	162	gcG/gcA	0		A:0	1	A:0		A	A	uc010rio.1	protein_coding	YES	CCDS31512.1			486/987									ovary(4)|skin(1)	5	c.(484-486)GCG>GCA			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF243,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 5, subfamily D,		A:0		ENSP00000367649	A:0.001	1-Jan	2.47E-05			0.000116		3.00E-05			rs201981572,COSM3397799	1-Jan	.		ENST00000378396	Transcript		A:0.0002	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000205029	g.chr11:55606713G>A	15283			LOW								--	--	1																																			0,1	1			p.A162A	NM_001005496	NP_001005496	A:0		0,1	OR5DG_HUMAN	OR5D16	HGNC	Q8NGK9	OR5DG_HUMAN					1	486	+		all_epithelial(135;0.208)	UPI0000046198	162			Helical; Name=4; (Potential).		SNV	OR5D16,synonymous_variant,p.=,ENST00000378396,NM_001005496.1;	uc010rio.1	c.486G>A	486/987	2	2			c.486G>A						11	SNP	c.(484-486)GCG>GCA	18	18			ovary(4)|skin(1)	5	Broad	olfactory receptor, family 5, subfamily D,			55606713		0.453	ENSG00000205029	10965	g.chr11:55606713G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							195.189327	KEEP	37	35	-1	66	61	37	35	-1	198.606893	66	61	0.358974	1	0	0	0	0	0	0	1	0	--	--		0	A				217	GBM-28-5208-TP	p.A162A	G	TGACACTCGCGTGCTCTGCTT	NM_001005496	NP_001005496	55606713	Q8NGK9	OR5DG_HUMAN	0			1	486	+	A	A		all_epithelial(135;0.208)	Silent	162			Helical; Name=4; (Potential).			
OR5D16	0	broad.mit.edu	GRCh37	11	55606777	55606777	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-5215-01	TCGA-28-5215-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378396.1:c.550T>C	p.Ser184Pro	p.S184P	ENST00000378396	NM_001005496.1	184	Tcc/Ccc	0			1			C	S/P	uc010rio.1	protein_coding	YES	CCDS31512.1			550/987									ovary(4)|skin(1)	5	c.(550-552)TCC>CCC			Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF243,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily D,				ENSP00000367649		1-Jan									COSM3397800	1-Jan	.		ENST00000378396	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000205029	g.chr11:55606777T>C	15283			MODERATE		0.1	neutral	getma.org/?cm=msa&ty=f&p=OR5DG_HUMAN&rb=141&re=285&var=S184P	NA	getma.org/?cm=var&var=hg19,11,55606777,T,C&fts=all	S184P	--	--	1																																			1	1		benign(0.327)	p.S184P	NM_001005496	NP_001005496		tolerated(0.33)	1	OR5DG_HUMAN	OR5D16	HGNC	Q8NGK9	OR5DG_HUMAN					1	550	+		all_epithelial(135;0.208)	UPI0000046198	184			Extracellular (Potential).		SNV	OR5D16,missense_variant,p.Ser184Pro,ENST00000378396,NM_001005496.1;	uc010rio.1	c.550T>C	550/987	3	3			c.550T>C						11	SNP	c.(550-552)TCC>CCC	61	61			ovary(4)|skin(1)	5	Broad	olfactory receptor, family 5, subfamily D,			55606777		0.418	ENSG00000205029	10965	g.chr11:55606777T>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							240.622272	KEEP	43	30	-1	80	81	43	30	-1	246.893863	80	81	0.323009	1	0	0	0	0	1	0	0	0	--	--		0	C				222	GBM-28-5215-TP	p.S184P	T	CTGTGAGTTATCCTCCCTGAT	NM_001005496	NP_001005496	55606777	Q8NGK9	OR5DG_HUMAN	0			1	550	+	C	C		all_epithelial(135;0.208)	Missense_Mutation	184			Extracellular (Potential).			
OR5D16	0	broad.mit.edu	GRCh37	11	55606593	55606593	+	stop_gained	Nonsense_Mutation	SNP	T	T	A			TCGA-76-6193-01	TCGA-76-6193-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378396.1:c.366T>A	p.Tyr122Ter	p.Y122*	ENST00000378396	NM_001005496.1	122	taT/taA	0			1			A	Y/*	uc010rio.1	protein_coding	YES	CCDS31512.1			366/987									ovary(4)|skin(1)	5	c.(364-366)TAT>TAA			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF243,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 5, subfamily D,				ENSP00000367649		1-Jan									COSM3397798	1-Jan	.		ENST00000378396	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000205029	g.chr11:55606593T>A	15283			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,11,55606593,T,A&fts=all	Y122*	--	--	1																																			1	1			p.Y122*	NM_001005496	NP_001005496			1	OR5DG_HUMAN	OR5D16	HGNC	Q8NGK9	OR5DG_HUMAN					1	366	+		all_epithelial(135;0.208)	UPI0000046198	122			Helical; Name=3; (Potential).		SNV	OR5D16,stop_gained,p.Tyr122Ter,ENST00000378396,NM_001005496.1;	uc010rio.1	c.366T>A	366/987	5	2			c.366T>A						11	SNP	c.(364-366)TAT>TAA	25	25			ovary(4)|skin(1)	5	Broad	olfactory receptor, family 5, subfamily D,			55606593		0.433	ENSG00000205029	10965	g.chr11:55606593T>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							45.629351	KEEP	12	12	-1	62	44	12	12	-1	57.605514	62	44	0.17094	1	0	0	0	0	0	1	0	0	--	--		0	A				276	GBM-76-6193-TP	p.Y122*	T	TGATGGCCTATGACCACTTTG	NM_001005496	NP_001005496	55606593	Q8NGK9	OR5DG_HUMAN	0			1	366	+	A	A		all_epithelial(135;0.208)	Nonsense_Mutation	122			Helical; Name=3; (Potential).			
OR5D16	390144		GRCh37	11	55606359	55606359	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000378396.1:c.132T>C	p.Asn44=	p.N44=	ENST00000378396	NM_001005496.1	44	aaT/aaC	0																																																																																																																																																																																																																																												
OR5D18	219438	broad.mit.edu	GRCh37	11	55587854	55587854	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0145-01	TCGA-06-0145-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333976.4:c.749C>A	p.Thr250Asn	p.T250N	ENST00000333976	NM_001001952.1	250	aCc/aAc	0			1			A	T/N	uc010rin.1	protein_coding	YES	CCDS31510.1			749/942									skin(2)|ovary(1)	3	c.(748-750)ACC>AAC			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF86,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 5, subfamily D,				ENSP00000335025		1-Jan									COSM2149774	1-Jan	.		ENST00000333976	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000186119	g.chr11:55587854C>A	15285			MODERATE		3.27	medium	getma.org/?cm=msa&ty=f&p=OR5DI_HUMAN&rb=140&re=284&var=T250N	NA	getma.org/?cm=var&var=hg19,11,55587854,C,A&fts=all	T250N	--	--	1																																			1	1		possibly_damaging(0.836)	p.T250N	NM_001001952	NP_001001952		deleterious(0)	1	OR5DI_HUMAN	OR5D18	HGNC	Q8NGL1	OR5DI_HUMAN					1	749	+		all_epithelial(135;0.208)	UPI0000046197	250			Helical; Name=6; (Potential).		SNV	OR5D18,missense_variant,p.Thr250Asn,ENST00000333976,NM_001001952.1;	uc010rin.1	c.749C>A	769/988	1	1			c.749C>A						11	SNP	c.(748-750)ACC>AAC	52	52			skin(2)|ovary(1)	3	Broad	olfactory receptor, family 5, subfamily D,			55587854		0.517	ENSG00000186119	10966	g.chr11:55587854C>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							129.162453	KEEP	23	25	0.520833333	38	45	23	25	0.520833333	131.249323	38	45	0.360656	1	0	0	0	0	1	0	0	0	--	--		0	A				23	GBM-06-0145-TP	p.T250N	C	ACTGCCATCACCATCTTCCAT	NM_001001952	NP_001001952	55587854	Q8NGL1	OR5DI_HUMAN	0			1	749	+	A	A		all_epithelial(135;0.208)	Missense_Mutation	250			Helical; Name=6; (Potential).			
OR5D18	0	broad.mit.edu	GRCh37	11	55587380	55587380	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-1450-01	TCGA-14-1450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333976.4:c.275C>A	p.Thr92Asn	p.T92N	ENST00000333976	NM_001001952.1	92	aCc/aAc	0			1			A	T/N	uc010rin.1	protein_coding	YES	CCDS31510.1			275/942									skin(2)|ovary(1)	3	c.(274-276)ACC>AAC			Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF86,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily D,				ENSP00000335025		1-Jan									COSM3397795	1-Jan	.		ENST00000333976	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000186119	g.chr11:55587380C>A	15285			MODERATE		2.07	medium	getma.org/?cm=msa&ty=f&p=OR5DI_HUMAN&rb=1&re=139&var=T92N	getma.org/pdb.php?prot=OR5DI_HUMAN&from=1&to=139&var=T92N	getma.org/?cm=var&var=hg19,11,55587380,C,A&fts=all	T92N	--	--	1																																			1	1		benign(0.021)	p.T92N	NM_001001952	NP_001001952		deleterious(0.03)	1	OR5DI_HUMAN	OR5D18	HGNC	Q8NGL1	OR5DI_HUMAN					1	275	+		all_epithelial(135;0.208)	UPI0000046197	92			Extracellular (Potential).		SNV	OR5D18,missense_variant,p.Thr92Asn,ENST00000333976,NM_001001952.1;	uc010rin.1	c.275C>A	295/988	1	1			c.275C>A						11	SNP	c.(274-276)ACC>AAC	64	64			skin(2)|ovary(1)	3	Broad	olfactory receptor, family 5, subfamily D,			55587380		0.418	ENSG00000186119	10966	g.chr11:55587380C>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							157.506763	KEEP	33	42	0.56	145	123	33	42	0.56	177.010368	145	123	0.232323	1	0	0	0	0	1	0	0	0	--	--		0	A				145	GBM-14-1450-TP	p.T92N	C	AAAGACAGAACCATTTCATTT	NM_001001952	NP_001001952	55587380	Q8NGL1	OR5DI_HUMAN	0			1	275	+	A	A		all_epithelial(135;0.208)	Missense_Mutation	92			Extracellular (Potential).			
OR5D18	0	broad.mit.edu	GRCh37	11	55587445	55587445	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-19-2620-01	TCGA-19-2620-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333976.4:c.340T>A	p.Phe114Ile	p.F114I	ENST00000333976	NM_001001952.1	114	Ttt/Att	0			1			A	F/I	uc010rin.1	protein_coding	YES	CCDS31510.1			340/942									skin(2)|ovary(1)	3	c.(340-342)TTT>ATT			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF86,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 5, subfamily D,				ENSP00000335025		1-Jan									COSM3397796	1-Jan	.		ENST00000333976	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000186119	g.chr11:55587445T>A	15285			MODERATE		1.65	low	getma.org/?cm=msa&ty=f&p=OR5DI_HUMAN&rb=1&re=139&var=F114I	getma.org/pdb.php?prot=OR5DI_HUMAN&from=1&to=139&var=F114I	getma.org/?cm=var&var=hg19,11,55587445,T,A&fts=all	F114I	--	--	1																																			1	1		benign(0.018)	p.F114I	NM_001001952	NP_001001952		tolerated(0.12)	1	OR5DI_HUMAN	OR5D18	HGNC	Q8NGL1	OR5DI_HUMAN					1	340	+		all_epithelial(135;0.208)	UPI0000046197	114			Helical; Name=3; (Potential).		SNV	OR5D18,missense_variant,p.Phe114Ile,ENST00000333976,NM_001001952.1;	uc010rin.1	c.340T>A	360/988	2	2			c.340T>A						11	SNP	c.(340-342)TTT>ATT	35	35			skin(2)|ovary(1)	3	Broad	olfactory receptor, family 5, subfamily D,			55587445		0.433	ENSG00000186119	10966	g.chr11:55587445T>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							271.040469	KEEP	72	37	-1	138	104	72	37	-1	282.173584	138	104	0.306306	1	0	0	0	0	1	0	0	0	--	--		0	A				162	GBM-19-2620-TP	p.F114I	T	CACTGAATCCTTTTTATTAGC	NM_001001952	NP_001001952	55587445	Q8NGL1	OR5DI_HUMAN	0			1	340	+	A	A		all_epithelial(135;0.208)	Missense_Mutation	114			Helical; Name=3; (Potential).			
OR5D18	0	broad.mit.edu	GRCh37	11	55587399	55587399	+	synonymous_variant	Silent	SNP	C	C	T	rs147156620	by1000genomes	TCGA-19-4068-01	TCGA-19-4068-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333976.4:c.294C>T	p.Cys98=	p.C98=	ENST00000333976	NM_001001952.1	98	tgC/tgT	0	T:0.0007		1			T	C	uc010rin.1	protein_coding	YES	CCDS31510.1			294/942									skin(2)|ovary(1)	3	c.(292-294)TGC>TGT			Gene3D:1.20.1070.10,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF86,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily D,			T:0	ENSP00000335025		1-Jan	0.00014	0.000673	0.000691	0.000116		1.50E-05			rs147156620,COSM2156449	1-Jan	common_variant		ENST00000333976	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000186119	g.chr11:55587399C>T	15285			LOW								--	--	1																																			0,1	1			p.C98C	NM_001001952	NP_001001952			0,1	OR5DI_HUMAN	OR5D18	HGNC	Q8NGL1	OR5DI_HUMAN					1	294	+		all_epithelial(135;0.208)	UPI0000046197	98			Extracellular (Potential).		SNV	OR5D18,synonymous_variant,p.=,ENST00000333976,NM_001001952.1;	uc010rin.1	c.294C>T	314/988	1	1			c.294C>T						11	SNP	c.(292-294)TGC>TGT	5	5			skin(2)|ovary(1)	3	Broad	olfactory receptor, family 5, subfamily D,			55587399		0.433	ENSG00000186119	10966	g.chr11:55587399C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							449.750219	KEEP	86	88	-1	141	149	86	88	-1	455.707911	141	149	0.371981	1	0	0	0	0	0	0	1	0	--	--		0	T				168	GBM-19-4068-TP	p.C98C	C	TTTTAGGATGCGTAGTACAAT	NM_001001952	NP_001001952	55587399	Q8NGL1	OR5DI_HUMAN	0			1	294	+	T	T		all_epithelial(135;0.208)	Silent	98			Extracellular (Potential).			
OR5D18	0	broad.mit.edu	GRCh37	11	55587476	55587476	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-26-5132-01	TCGA-26-5132-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333976.4:c.371T>C	p.Phe124Ser	p.F124S	ENST00000333976	NM_001001952.1	124	tTc/tCc	0			1			C	F/S	uc010rin.1	protein_coding	YES	CCDS31510.1			371/942									skin(2)|ovary(1)	3	c.(370-372)TTC>TCC			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF86,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily D,				ENSP00000335025		1-Jan									COSM2156915	1-Jan	.		ENST00000333976	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000186119	g.chr11:55587476T>C	15285			MODERATE		2.65	medium	getma.org/?cm=msa&ty=f&p=OR5DI_HUMAN&rb=1&re=139&var=F124S	getma.org/pdb.php?prot=OR5DI_HUMAN&from=1&to=139&var=F124S	getma.org/?cm=var&var=hg19,11,55587476,T,C&fts=all	F124S	--	--	1																																			1	1		benign(0.072)	p.F124S	NM_001001952	NP_001001952		deleterious(0.01)	1	OR5DI_HUMAN	OR5D18	HGNC	Q8NGL1	OR5DI_HUMAN					1	371	+		all_epithelial(135;0.208)	UPI0000046197	124			Cytoplasmic (Potential).		SNV	OR5D18,missense_variant,p.Phe124Ser,ENST00000333976,NM_001001952.1;	uc010rin.1	c.371T>C	391/988	3	3			c.371T>C						11	SNP	c.(370-372)TTC>TCC	61	61			skin(2)|ovary(1)	3	Broad	olfactory receptor, family 5, subfamily D,			55587476		0.458	ENSG00000186119	10966	g.chr11:55587476T>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							603.809502	KEEP	100	85	-1	127	129	100	85	-1	606.445923	127	129	0.414868	1	0	0	0	0	1	0	0	0	--	--		0	C				181	GBM-26-5132-TP	p.F124S	T	TATGACCGCTTCGTGGCCATT	NM_001001952	NP_001001952	55587476	Q8NGL1	OR5DI_HUMAN	0			1	371	+	C	C		all_epithelial(135;0.208)	Missense_Mutation	124			Cytoplasmic (Potential).			
OR5D18	219438		GRCh37	11	55587178	55587178	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000333976.4:c.73C>G	p.Gln25Glu	p.Q25E	ENST00000333976	NM_001001952.1	25	Caa/Gaa	0																																																																																																																																																																																																																																												
OR5F1	338674	broad.mit.edu	GRCh37	11	55761167	55761167	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01	TCGA-06-0192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278409.1:c.935C>T	p.Ser312Phe	p.S312F	ENST00000278409	NM_003697.1	312	tCc/tTc	0			1			A	S/F	uc010riv.1	protein_coding	YES	CCDS31515.1			935/945									ovary(1)|pancreas(1)	2	c.(934-936)TCC>TTC				olfactory receptor, family 5, subfamily F,				ENSP00000278409		1-Jan									COSM1703955	1-Jan	.		ENST00000278409	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000149133	g.chr11:55761167G>A	8343			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=OR5F1_HUMAN&rb=284&re=314&var=S312F	NA	getma.org/?cm=var&var=hg19,11,55761167,G,A&fts=all	S312F	--	--	1																																			1	1		benign(0.169)	p.S312F	NM_003697	NP_003688		deleterious(0.01)	1	OR5F1_HUMAN	OR5F1	HGNC	O95221	OR5F1_HUMAN					1	935	-	Esophageal squamous(21;0.00448)		UPI0000041D19	312			Cytoplasmic (Potential).		SNV	OR5F1,missense_variant,p.Ser312Phe,ENST00000278409,NM_003697.1;	uc010riv.1	c.935C>T	935/945	1	1			c.935C>T						11	SNP	c.(934-936)TCC>TTC	49	49			ovary(1)|pancreas(1)	2	Broad	olfactory receptor, family 5, subfamily F,			55761167		0.338	ENSG00000149133	10967	g.chr11:55761167G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							47.724686	KEEP	12	7	-1	31	20	12	7	-1	50.795094	31	20	0.272727	1	0	0	0	0	1	0	0	0	--	--		0	A				44	GBM-06-0192-TP	p.S312F	G	TCACAGAAAGGAAGAGGTCCT	NM_003697	NP_003688	55761167	O95221	OR5F1_HUMAN	0			1	935	-	A	A	Esophageal squamous(21;0.00448)		Missense_Mutation	312			Cytoplasmic (Potential).			
OR5F1	0	broad.mit.edu	GRCh37	11	55761884	55761884	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-14-1043-01	TCGA-14-1043-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278409.1:c.218A>C	p.Asn73Thr	p.N73T	ENST00000278409	NM_003697.1	73	aAc/aCc	0			1			G	N/T	uc010riv.1	protein_coding	YES	CCDS31515.1			218/945									ovary(1)|pancreas(1)	2	c.(217-219)AAC>ACC			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF10,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 5, subfamily F,				ENSP00000278409		1-Jan									COSM3397819	1-Jan	.		ENST00000278409	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000149133	g.chr11:55761884T>G	8343			MODERATE		-0.505	neutral	getma.org/?cm=msa&ty=f&p=OR5F1_HUMAN&rb=1&re=138&var=N73T	NA	getma.org/?cm=var&var=hg19,11,55761884,T,G&fts=all	N73T	--	--	1																																			1	1		benign(0)	p.N73T	NM_003697	NP_003688		deleterious(0)	1	OR5F1_HUMAN	OR5F1	HGNC	O95221	OR5F1_HUMAN					1	218	-	Esophageal squamous(21;0.00448)		UPI0000041D19	73			Helical; Name=2; (Potential).		SNV	OR5F1,missense_variant,p.Asn73Thr,ENST00000278409,NM_003697.1;	uc010riv.1	c.218A>C	218/945	4	4			c.218A>C						11	SNP	c.(217-219)AAC>ACC	30	30			ovary(1)|pancreas(1)	2	Broad	olfactory receptor, family 5, subfamily F,			55761884		0.443	ENSG00000149133	10967	g.chr11:55761884T>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							41.48874	KEEP	6	9	-1	31	27	6	9	-1	46.95929	31	27	0.211268	1	0	0	0	0	1	0	0	0	--	--		0	G				143	GBM-14-1043-TP	p.N73T	T	GGTAGTTGAGTTACAAACGTC	NM_003697	NP_003688	55761884	O95221	OR5F1_HUMAN	0			1	218	-	G	G	Esophageal squamous(21;0.00448)		Missense_Mutation	73			Helical; Name=2; (Potential).			
OR5H1	0	broad.mit.edu	GRCh37	3	97852262	97852262	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-12-1597-01	TCGA-12-1597-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354565.2:c.721T>A	p.Cys241Ser	p.C241S	ENST00000354565	NM_001005338.1	241	Tgt/Agt	0			1			A	C/S	uc011bgt.1	protein_coding	YES	CCDS33797.1			721/942									ovary(1)|breast(1)	2	c.(721-723)TGT>AGT			Transmembrane_helices:TMhelix,Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF135,PROSITE_profiles:PS50262	olfactory receptor, family 5, subfamily H,				ENSP00000346575		1-Jan									COSM3408915	1-Jan	.		ENST00000354565	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000231192	g.chr3:97852262T>A	8346			MODERATE		4.065	high	getma.org/?cm=msa&ty=f&p=OR5H1_HUMAN&rb=139&re=283&var=C241S	NA	getma.org/?cm=var&var=hg19,3,97852262,T,A&fts=all	C241S	--	--	1																																			1	1		probably_damaging(0.992)	p.C241S	NM_001005338	NP_001005338		deleterious(0)	1	OR5H1_HUMAN	OR5H1	HGNC	A6NKK0	OR5H1_HUMAN					1	721	+			UPI0000197652	241			Helical; Name=6; (Potential).		SNV	OR5H1,missense_variant,p.Cys241Ser,ENST00000354565,NM_001005338.1;RP11-343D2.11,intron_variant,,ENST00000508964,;	uc011bgt.1	c.721T>A	721/942	1	1			c.721T>A						3	SNP	c.(721-723)TGT>AGT	59	59			ovary(1)|breast(1)	2	Broad	olfactory receptor, family 5, subfamily H,			97852262		0.408	ENSG00000231192	10968	g.chr3:97852262T>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-32.71837	KEEP	2	1	-1	85	74	2	1	-1	6.340048	85	74	0.019868	1	0	0	0	0	1	0	0	0	--	--		0	A				124	GBM-12-1597-TP	p.C241S	T	CTTTTCCACCTGTGGAGCCCA	NM_001005338	NP_001005338	97852262	A6NKK0	OR5H1_HUMAN	0			1	721	+	A	A			Missense_Mutation	241			Helical; Name=6; (Potential).			
OR5H1	0	broad.mit.edu	GRCh37	3	97851558	97851558	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-2631-01	TCGA-19-2631-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354565.2:c.17C>G	p.Ala6Gly	p.A6G	ENST00000354565	NM_001005338.1	6	gCa/gGa	0			1			G	A/G	uc011bgt.1	protein_coding	YES	CCDS33797.1			17/942									ovary(1)|breast(1)	2	c.(16-18)GCA>GGA			Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF135	olfactory receptor, family 5, subfamily H,				ENSP00000346575		1-Jan									COSM3408914	1-Jan	.		ENST00000354565	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000231192	g.chr3:97851558C>G	8346			MODERATE		-0.245	neutral	getma.org/?cm=msa&ty=f&p=OR5H1_HUMAN&rb=1&re=138&var=A6G	NA	getma.org/?cm=var&var=hg19,3,97851558,C,G&fts=all	A6G	--	--	1																																			1	1		benign(0.006)	p.A6G	NM_001005338	NP_001005338		tolerated(0.42)	1	OR5H1_HUMAN	OR5H1	HGNC	A6NKK0	OR5H1_HUMAN					1	17	+			UPI0000197652	6			Extracellular (Potential).		SNV	OR5H1,missense_variant,p.Ala6Gly,ENST00000354565,NM_001005338.1;RP11-343D2.11,intron_variant,,ENST00000508964,;	uc011bgt.1	c.17C>G	17/942	3	3			c.17C>G						3	SNP	c.(16-18)GCA>GGA	55	55			ovary(1)|breast(1)	2	Broad	olfactory receptor, family 5, subfamily H,			97851558		0.393	ENSG00000231192	10968	g.chr3:97851558C>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-55.598891	KEEP	2	3	-1	209	197	2	3	-1	6.686004	209	197	0.013043	1	0	0	0	0	1	0	0	0	--	--		0	G				167	GBM-19-2631-TP	p.A6G	C	GAGGAAAATGCAACATTGCTG	NM_001005338	NP_001005338	97851558	A6NKK0	OR5H1_HUMAN	0			1	17	+	G	G			Missense_Mutation	6			Extracellular (Potential).			
OR5H1	0	broad.mit.edu	GRCh37	3	97851850	97851850	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-1837-01	TCGA-27-1837-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354565.2:c.309G>A	p.Ser103=	p.S103=	ENST00000354565	NM_001005338.1	103	tcG/tcA	0			1			A	S	uc011bgt.1	protein_coding	YES	CCDS33797.1			309/942									ovary(1)|breast(1)	2	c.(307-309)TCG>TCA			Transmembrane_helices:TMhelix,Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF135,PROSITE_profiles:PS50262	olfactory receptor, family 5, subfamily H,				ENSP00000346575		1-Jan	1.65E-05					1.50E-05		6.06E-05	rs779446848,COSM447115	1-Jan	.		ENST00000354565	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000231192	g.chr3:97851850G>A	8346			LOW								--	--	1																																			0,1	1			p.S103S	NM_001005338	NP_001005338			0,1	OR5H1_HUMAN	OR5H1	HGNC	A6NKK0	OR5H1_HUMAN					1	309	+			UPI0000197652	103			Helical; Name=3; (Potential).		SNV	OR5H1,synonymous_variant,p.=,ENST00000354565,NM_001005338.1;RP11-343D2.11,intron_variant,,ENST00000508964,;	uc011bgt.1	c.309G>A	309/942	1	1			c.309G>A						3	SNP	c.(307-309)TCG>TCA	64	64			ovary(1)|breast(1)	2	Broad	olfactory receptor, family 5, subfamily H,			97851850		0.388	ENSG00000231192	10968	g.chr3:97851850G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							330.647708	KEEP	64	72	-1	111	109	64	72	-1	335.283606	111	109	0.375367	1	0	0	0	0	0	0	1	0	--	--		0	A				196	GBM-27-1837-TP	p.S103S	G	AGTTTTTTTCGTTTGCAATCA	NM_001005338	NP_001005338	97851850	A6NKK0	OR5H1_HUMAN	0			1	309	+	A	A			Silent	103			Helical; Name=3; (Potential).			
OR5H1	0	broad.mit.edu	GRCh37	3	97852415	97852415	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6191-01	TCGA-76-6191-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354565.2:c.874C>T	p.Leu292=	p.L292=	ENST00000354565	NM_001005338.1	292	Ctg/Ttg	0			1			T	L	uc011bgt.1	protein_coding	YES	CCDS33797.1			874/942									ovary(1)|breast(1)	2	c.(874-876)CTG>TTG			Transmembrane_helices:TMhelix,Prints_domain:PR00237,Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF135	olfactory receptor, family 5, subfamily H,				ENSP00000346575		1-Jan										1-Jan	.		ENST00000354565	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000231192	g.chr3:97852415C>T	8346			LOW								--	--	1																																				1			p.L292L	NM_001005338	NP_001005338				OR5H1_HUMAN	OR5H1	HGNC	A6NKK0	OR5H1_HUMAN					1	874	+			UPI0000197652	292			Helical; Name=7; (Potential).		SNV	OR5H1,synonymous_variant,p.=,ENST00000354565,NM_001005338.1;RP11-343D2.11,intron_variant,,ENST00000508964,;	uc011bgt.1	c.874C>T	874/942	1	1			c.874C>T						3	SNP	c.(874-876)CTG>TTG	5	5			ovary(1)|breast(1)	2	Broad	olfactory receptor, family 5, subfamily H,			97852415		0.348	ENSG00000231192	10968	g.chr3:97852415C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							95.9827	KEEP	15	19	-1	47	35	15	19	-1	99.684383	47	35	0.301887	1	0	0	0	0	0	0	1	0	--	--		0	T				274	GBM-76-6191-TP	p.L292L	C	CATCTACAGTCTGAGAAATAA	NM_001005338	NP_001005338	97852415	A6NKK0	OR5H1_HUMAN	0			1	874	+	T	T			Silent	292			Helical; Name=7; (Potential).			
OR5H2	79310	broad.mit.edu	GRCh37	3	98002586	98002586	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2562-01	TCGA-06-2562-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355273.2:c.855C>T	p.Ile285=	p.I285=	ENST00000355273	NM_001005482.1	285	atC/atT	0			1			T	I	uc003dsj.1	protein_coding	YES	CCDS33801.1			855/945									ovary(3)	3	c.(853-855)ATC>ATT			Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF277,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 5, subfamily H,				ENSP00000347418		1-Jan									COSM2152780	1-Jan	.		ENST00000355273	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000197938	g.chr3:98002586C>T	14752			LOW								--	--	1																																			1	1			p.I285I	NM_001005482	NP_001005482			1	OR5H2_HUMAN	OR5H2	HGNC	Q8NGV7	OR5H2_HUMAN					1	855	+			UPI0000041B67	285			Helical; Name=7; (Potential).		SNV	OR5H2,synonymous_variant,p.=,ENST00000355273,NM_001005482.1;RP11-325B23.2,intron_variant,,ENST00000508616,;	uc003dsj.1	c.855C>T	855/945	2	2			c.855C>T						3	SNP	c.(853-855)ATC>ATT	32	32			ovary(3)	3	Broad	olfactory receptor, family 5, subfamily H,			98002586		0.328	ENSG00000197938	10971	g.chr3:98002586C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							84.477999	KEEP	17	15	-1	21	32	17	15	-1	85.738254	21	32	0.363636	1	0	0	0	0	0	0	1	0	--	--		0	T				85	GBM-06-2562-TP	p.I285I	C	TTTATACAATCATAATTCCTT	NM_001005482	NP_001005482	98002586	Q8NGV7	OR5H2_HUMAN	0			1	855	+	T	T			Silent	285			Helical; Name=7; (Potential).			
OR5H2	0	broad.mit.edu	GRCh37	3	98002428	98002428	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-19-2620-01	TCGA-19-2620-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355273.2:c.697A>C	p.Lys233Gln	p.K233Q	ENST00000355273	NM_001005482.1	233	Aag/Cag	0			1			C	K/Q	uc003dsj.1	protein_coding	YES	CCDS33801.1			697/945									ovary(3)	3	c.(697-699)AAG>CAG			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF277,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily H,				ENSP00000347418		1-Jan									COSM3408925	1-Jan	.		ENST00000355273	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000197938	g.chr3:98002428A>C	14752			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=OR5H2_HUMAN&rb=144&re=288&var=K233Q	NA	getma.org/?cm=var&var=hg19,3,98002428,A,C&fts=all	K233Q	--	--	1																																			1	1		benign(0.056)	p.K233Q	NM_001005482	NP_001005482		tolerated(0.12)	1	OR5H2_HUMAN	OR5H2	HGNC	Q8NGV7	OR5H2_HUMAN					1	697	+			UPI0000041B67	233			Cytoplasmic (Potential).		SNV	OR5H2,missense_variant,p.Lys233Gln,ENST00000355273,NM_001005482.1;RP11-325B23.2,intron_variant,,ENST00000508616,;	uc003dsj.1	c.697A>C	697/945	4	4			c.697A>C						3	SNP	c.(697-699)AAG>CAG	34	34			ovary(3)	3	Broad	olfactory receptor, family 5, subfamily H,			98002428		0.363	ENSG00000197938	10971	g.chr3:98002428A>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							68.150834	KEEP	12	10	-1	28	24	12	10	-1	70.506267	28	24	0.304348	1	0	0	0	0	1	0	0	0	--	--		0	C				162	GBM-19-2620-TP	p.K233Q	A	AATCCTAAAAAAGAAGTCTGT	NM_001005482	NP_001005482	98002428	Q8NGV7	OR5H2_HUMAN	0			1	697	+	C	C			Missense_Mutation	233			Cytoplasmic (Potential).			
OR5H6	0	broad.mit.edu	GRCh37	3	97983841	97983841	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-12-0821-01	TCGA-12-0821-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000383696.2:c.713T>C	p.Leu238Pro	p.L238P	ENST00000383696	NM_001005479.1	238	cTc/cCc	0			1			C	L/P	uc003dsi.1	protein_coding	YES	CCDS33800.1			713/978									skin(2)|large_intestine(1)	3	c.(712-714)CTC>CCC			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF231,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 5, subfamily H,				ENSP00000373196		1-Jan	8.24E-06			0.000117					rs759554463,COSM3408923	1-Jan	.		ENST00000383696	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000230301	g.chr3:97983841T>C	14767			MODERATE		3.215	medium	getma.org/?cm=msa&ty=f&p=OR5H6_HUMAN&rb=155&re=299&var=L238P	NA	getma.org/?cm=var&var=hg19,3,97983841,T,C&fts=all	L238P	--	--	1																																			0,1	1		probably_damaging(0.992)	p.L238P	NM_001005479	NP_001005479		deleterious(0)	0,1	OR5H6_HUMAN	OR5H6	HGNC	Q8NGV6	OR5H6_HUMAN					1	713	+			UPI000004B1EC	238			Cytoplasmic (Potential).		SNV	OR5H6,missense_variant,p.Leu238Pro,ENST00000383696,NM_001005479.1;RP11-325B23.2,intron_variant,,ENST00000508616,;	uc003dsi.1	c.713T>C	754/1113	3	3			c.713T>C						3	SNP	c.(712-714)CTC>CCC	4	4			skin(2)|large_intestine(1)	3	Broad	olfactory receptor, family 5, subfamily H,			97983841		0.353	ENSG00000230301	10972	g.chr3:97983841T>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-2.220658	KEEP	3	3	-1	56	31	3	3	-1	14.48466	56	31	0.068966	1	0	0	0	0	1	0	0	0	--	--		0	C				123	GBM-12-0821-TP	p.L238P	T	ACAATTATCCTCTTTACAATC	NM_001005479	NP_001005479	97983841	Q8NGV6	OR5H6_HUMAN	0			1	713	+	C	C			Missense_Mutation	238			Cytoplasmic (Potential).			
OR5H6	0	broad.mit.edu	GRCh37	3	97983628	97983628	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-27-2519-01	TCGA-27-2519-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000383696.2:c.500G>C	p.Gly167Ala	p.G167A	ENST00000383696	NM_001005479.1	167	gGt/gCt	0			1			C	G/A	uc003dsi.1	protein_coding	YES	CCDS33800.1			500/978									skin(2)|large_intestine(1)	3	c.(499-501)GGT>GCT			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF231,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 5, subfamily H,				ENSP00000373196		1-Jan									COSM3408922	1-Jan	.		ENST00000383696	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000230301	g.chr3:97983628G>C	14767			MODERATE		0.31	neutral	getma.org/?cm=msa&ty=f&p=OR5H6_HUMAN&rb=155&re=299&var=G167A	NA	getma.org/?cm=var&var=hg19,3,97983628,G,C&fts=all	G167A	--	--	1																																			1	1		benign(0.029)	p.G167A	NM_001005479	NP_001005479		tolerated(0.54)	1	OR5H6_HUMAN	OR5H6	HGNC	Q8NGV6	OR5H6_HUMAN					1	500	+			UPI000004B1EC	167			Helical; Name=4; (Potential).		SNV	OR5H6,missense_variant,p.Gly167Ala,ENST00000383696,NM_001005479.1;RP11-325B23.2,intron_variant,,ENST00000508616,;	uc003dsi.1	c.500G>C	541/1113	4	4			c.500G>C						3	SNP	c.(499-501)GGT>GCT	34	34			skin(2)|large_intestine(1)	3	Broad	olfactory receptor, family 5, subfamily H,			97983628		0.348	ENSG00000230301	10972	g.chr3:97983628G>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							216.593203	KEEP	33	39	-1	105	89	33	39	-1	227.620219	105	89	0.27572	1	0	0	0	0	1	0	0	0	--	--		0	C				199	GBM-27-2519-TP	p.G167A	G	TCATTTATAGGTGGCCTTCTT	NM_001005479	NP_001005479	97983628	Q8NGV6	OR5H6_HUMAN	0			1	500	+	C	C			Missense_Mutation	167			Helical; Name=4; (Potential).			
OR5I1	10798	broad.mit.edu	GRCh37	11	55703265	55703265	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0649-01	TCGA-06-0649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301532.3:c.612C>T	p.Tyr204=	p.Y204=	ENST00000301532	NM_006637.1	204	taC/taT	0			1			A	Y	uc010ris.1	protein_coding	YES	CCDS7949.1			612/945									ovary(1)	1	c.(610-612)TAC>TAT			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF69,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily I,				ENSP00000301532		1-Jan	1.65E-05							0.000125	rs774747525,COSM2151535	1-Jan	.		ENST00000301532	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000167825	g.chr11:55703265G>A	8347			LOW								--	--	1																																			0,1	1			p.Y204Y	NM_006637	NP_006628			0,1	OR5I1_HUMAN	OR5I1	HGNC	Q13606	OR5I1_HUMAN					1	612	-			UPI00000405D5	204			Helical; Name=5; (Potential).		SNV	OR5I1,synonymous_variant,p.=,ENST00000301532,NM_006637.1;	uc010ris.1	c.612C>T	612/945	2	2			c.612C>T						11	SNP	c.(610-612)TAC>TAT	45	45			ovary(1)	1	Broad	olfactory receptor, family 5, subfamily I,			55703265		0.403	ENSG00000167825	10973	g.chr11:55703265G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							5.150386	KEEP	3	3	-1	18	14	3	3	-1	9.227293	18	14	0.147059	1	0	0	0	0	0	0	1	0	--	--		0	A				62	GBM-06-0649-TP	p.Y204Y	G	CTGAGCTGCCGTATGTGGAGA	NM_006637	NP_006628	55703265	Q13606	OR5I1_HUMAN	0			1	612	-	A	A			Silent	204			Helical; Name=5; (Potential).			
OR5I1	10798	broad.mit.edu	GRCh37	11	55703856	55703856	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0744-01	TCGA-06-0744-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301532.3:c.21C>G	p.Asn7Lys	p.N7K	ENST00000301532	NM_006637.1	7	aaC/aaG	0			1			C	N/K	uc010ris.1	protein_coding	YES	CCDS7949.1			21/945									ovary(1)	1	c.(19-21)AAC>AAG			Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF69,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily I,				ENSP00000301532		1-Jan									COSM2151646	1-Jan	.		ENST00000301532	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000167825	g.chr11:55703856G>C	8347			MODERATE		2.71	medium	getma.org/?cm=msa&ty=f&p=OR5I1_HUMAN&rb=1&re=140&var=N7K	NA	getma.org/?cm=var&var=hg19,11,55703856,G,C&fts=all	N7K	--	--	1																																			1	1		benign(0.197)	p.N7K	NM_006637	NP_006628		deleterious(0)	1	OR5I1_HUMAN	OR5I1	HGNC	Q13606	OR5I1_HUMAN					1	21	-			UPI00000405D5	7			Extracellular (Potential).		SNV	OR5I1,missense_variant,p.Asn7Lys,ENST00000301532,NM_006637.1;	uc010ris.1	c.21C>G	21/945	3	3			c.21C>G						11	SNP	c.(19-21)AAC>AAG	2	2			ovary(1)	1	Broad	olfactory receptor, family 5, subfamily I,			55703856		0.323	ENSG00000167825	10973	g.chr11:55703856G>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							74.033978	KEEP	15	6	-1	7	4	15	6	-1	74.502966	7	4	0.633333	1	0	0	0	0	1	0	0	0	--	--		0	C				66	GBM-06-0744-TP	p.N7K	G	CCAACGTGTAGTTTCTATCTG	NM_006637	NP_006628	55703856	Q13606	OR5I1_HUMAN	0			1	21	-	C	C			Missense_Mutation	7			Extracellular (Potential).			
OR5I1	0	broad.mit.edu	GRCh37	11	55703444	55703444	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301532.3:c.433C>T	p.Arg145Trp	p.R145W	ENST00000301532	NM_006637.1	145	Cgg/Tgg	0		A:0.0008	1	A:0		A	R/W	uc010ris.1	protein_coding	YES	CCDS7949.1			433/945									ovary(1)	1	c.(433-435)CGG>TGG			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF69,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily I,		A:0		ENSP00000301532	A:0	1-Jan									rs565054095,COSM192101	1-Jan	.		ENST00000301532	Transcript		A:0.0002	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000167825	g.chr11:55703444G>A	8347			MODERATE		0.335	neutral	getma.org/?cm=msa&ty=f&p=OR5I1_HUMAN&rb=141&re=285&var=R145W	NA	getma.org/?cm=var&var=hg19,11,55703444,G,A&fts=all	R145W	--	--	1																																			0,1	1		benign(0)	p.R145W	NM_006637	NP_006628	A:0	tolerated(0.19)	0,1	OR5I1_HUMAN	OR5I1	HGNC	Q13606	OR5I1_HUMAN					1	433	-			UPI00000405D5	145			Helical; Name=4; (Potential).		SNV	OR5I1,missense_variant,p.Arg145Trp,ENST00000301532,NM_006637.1;	uc010ris.1	c.433C>T	433/945	1	1			c.433C>T						11	SNP	c.(433-435)CGG>TGG	62	62			ovary(1)	1	Broad	olfactory receptor, family 5, subfamily I,			55703444		0.428	ENSG00000167825	10973	g.chr11:55703444G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							113.21012	KEEP	19	28	-1	28	45	19	28	-1	113.756151	28	45	0.421569	1	0	0	0	0	1	0	0	0	--	--		0	A				131	GBM-12-5301-TP	p.R145W	G	ACAATCAACCGCATACAGATG	NM_006637	NP_006628	55703444	Q13606	OR5I1_HUMAN	0			1	433	-	A	A			Missense_Mutation	145			Helical; Name=4; (Potential).			
OR5I1	0	broad.mit.edu	GRCh37	11	55703585	55703585	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-26-5134-01	TCGA-26-5134-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301532.3:c.292G>T	p.Gly98Trp	p.G98W	ENST00000301532	NM_006637.1	98	Ggg/Tgg	0			1			A	G/W	uc010ris.1	protein_coding	YES	CCDS7949.1			292/945									ovary(1)	1	c.(292-294)GGG>TGG			Gene3D:1.20.1070.10,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF69,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily I,				ENSP00000301532		1-Jan									COSM2156986	1-Jan	.		ENST00000301532	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000167825	g.chr11:55703585C>A	8347			MODERATE		2.925	medium	getma.org/?cm=msa&ty=f&p=OR5I1_HUMAN&rb=1&re=140&var=G98W	getma.org/pdb.php?prot=OR5I1_HUMAN&from=1&to=140&var=G98W	getma.org/?cm=var&var=hg19,11,55703585,C,A&fts=all	G98W	--	--	1																																			1	1		probably_damaging(0.982)	p.G98W	NM_006637	NP_006628		deleterious(0)	1	OR5I1_HUMAN	OR5I1	HGNC	Q13606	OR5I1_HUMAN					1	292	-			UPI00000405D5	98			Extracellular (Potential).		SNV	OR5I1,missense_variant,p.Gly98Trp,ENST00000301532,NM_006637.1;	uc010ris.1	c.292G>T	292/945	1	1			c.292G>T						11	SNP	c.(292-294)GGG>TGG	52	52			ovary(1)	1	Broad	olfactory receptor, family 5, subfamily I,			55703585		0.428	ENSG00000167825	10973	g.chr11:55703585C>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							87.561181	KEEP	13	18	0.580645161	17	27	13	18	0.580645161	88.081258	17	27	0.408451	1	0	0	0	0	1	0	0	0	--	--		0	A				183	GBM-26-5134-TP	p.G98W	C	AGGGCACACCCATAATAGGAA	NM_006637	NP_006628	55703585	Q13606	OR5I1_HUMAN	0			1	292	-	A	A			Missense_Mutation	98			Extracellular (Potential).			
OR5K1	26339	broad.mit.edu	GRCh37	3	98189167	98189167	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0747-01	TCGA-06-0747-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332650.5:c.747A>G	p.Ser249=	p.S249=	ENST00000332650	NM_001004736.2	249	tcA/tcG	0			1			G	S	uc003dsm.2	protein_coding	YES	CCDS43115.1			747/927									large_intestine(1)	1	c.(745-747)TCA>TCG			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF38,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 5, subfamily K,				ENSP00000373193		1-Jan	8.24E-06					1.50E-05			rs771218467,COSM2151850	1-Jan	.		ENST00000332650	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000232382	g.chr3:98189167A>G	8349			LOW								--	--	1																																			0,1	1			p.S249S	NM_001004736	NP_001004736			0,1	OR5K1_HUMAN	OR5K1	HGNC	Q8NHB7	OR5K1_HUMAN					1	747	+			UPI000013F5A3	249			Helical; Name=6; (Potential).		SNV	OR5K1,synonymous_variant,p.=,ENST00000332650,NM_001004736.2;	uc003dsm.2	c.747A>G	844/1097	3	3			c.747A>G						3	SNP	c.(745-747)TCA>TCG	14	14			large_intestine(1)	1	Broad	olfactory receptor, family 5, subfamily K,			98189167		0.333	ENSG00000232382	10975	g.chr3:98189167A>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							211.547117	KEEP	52	23	-1	47	24	52	23	-1	211.56222	47	24	0.511628	1	0	0	0	0	0	0	1	0	--	--		0	G				68	GBM-06-0747-TP	p.S249S	A	TGTCAGTTTCATTATTCTATG	NM_001004736	NP_001004736	98189167	Q8NHB7	OR5K1_HUMAN	0			1	747	+	G	G			Silent	249			Helical; Name=6; (Potential).			
OR5K1	26339	broad.mit.edu	GRCh37	3	98188663	98188663	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01	TCGA-06-2567-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332650.5:c.243G>A	p.Met81Ile	p.M81I	ENST00000332650	NM_001004736.2	81	atG/atA	0	C:0	C:0	1	C:0.0014		A	M/I	uc003dsm.2	protein_coding	YES	CCDS43115.1			243/927									large_intestine(1)	1	c.(241-243)ATG>ATA			Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF38,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily K,		C:0	C:0.0001	ENSP00000373193	C:0.001	1-Jan	1.65E-05					3.00E-05			rs188538173,COSM2153060	1-Jan	.		ENST00000332650	Transcript		C:0.0004	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000232382	g.chr3:98188663G>A	8349			MODERATE		1.175	low	getma.org/?cm=msa&ty=f&p=OR5K1_HUMAN&rb=1&re=138&var=M81I	getma.org/pdb.php?prot=OR5K1_HUMAN&from=1&to=138&var=M81I	getma.org/?cm=var&var=hg19,3,98188663,G,A&fts=all	M81I	--	--	1																																			0,1	1		benign(0.001)	p.M81I	NM_001004736	NP_001004736	C:0	deleterious(0.03)	0,1	OR5K1_HUMAN	OR5K1	HGNC	Q8NHB7	OR5K1_HUMAN					1	243	+			UPI000013F5A3	81			Extracellular (Potential).		SNV	OR5K1,missense_variant,p.Met81Ile,ENST00000332650,NM_001004736.2;	uc003dsm.2	c.243G>A	340/1097	2	2			c.243G>A						3	SNP	c.(241-243)ATG>ATA	33	33			large_intestine(1)	1	Broad	olfactory receptor, family 5, subfamily K,			98188663		0.413	ENSG00000232382	10975	g.chr3:98188663G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							420.158408	KEEP	84	93	-1	163	157	84	93	-1	427.008008	163	157	0.363636	1	0	0	0	0	1	0	0	0	--	--		0	A				89	GBM-06-2567-TP	p.M81I	G	CCCCCAAAATGTTAGAGAACT	NM_001004736	NP_001004736	98188663	Q8NHB7	OR5K1_HUMAN	0			1	243	+	A	A			Missense_Mutation	81			Extracellular (Potential).			
OR5K1	26339	broad.mit.edu	GRCh37	3	98188932	98188932	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332650.5:c.512C>T	p.Ser171Leu	p.S171L	ENST00000332650	NM_001004736.2	171	tCg/tTg	0	T:0.0002		1			T	S/L	uc003dsm.2	protein_coding	YES	CCDS43115.1			512/927									large_intestine(1)	1	c.(511-513)TCG>TTG			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF38,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily K,			T:0.0001	ENSP00000373193		1-Jan	4.12E-05	9.65E-05	8.73E-05			4.50E-05			rs199803370,COSM262658	1-Jan	.		ENST00000332650	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000232382	g.chr3:98188932C>T	8349			MODERATE		2.425	medium	getma.org/?cm=msa&ty=f&p=OR5K1_HUMAN&rb=139&re=283&var=S171L	NA	getma.org/?cm=var&var=hg19,3,98188932,C,T&fts=all	S171L	--	--	1																																			0,1	1		benign(0.018)	p.S171L	NM_001004736	NP_001004736		deleterious(0.01)	0,1	OR5K1_HUMAN	OR5K1	HGNC	Q8NHB7	OR5K1_HUMAN					1	512	+			UPI000013F5A3	171			Extracellular (Potential).		SNV	OR5K1,missense_variant,p.Ser171Leu,ENST00000332650,NM_001004736.2;	uc003dsm.2	c.512C>T	609/1097	2	2			c.512C>T						3	SNP	c.(511-513)TCG>TTG	47	47			large_intestine(1)	1	Broad	olfactory receptor, family 5, subfamily K,			98188932		0.398	ENSG00000232382	10975	g.chr3:98188932C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							372.12244	KEEP	88	74	-1	171	178	88	74	-1	385.432572	171	178	0.315068	1	0	0	0	0	1	0	0	0	--	--		0	T				100	GBM-06-5418-TP	p.S171L	C	TTCTGTGGATCGAATCACATC	NM_001004736	NP_001004736	98188932	Q8NHB7	OR5K1_HUMAN	0			1	512	+	T	T			Missense_Mutation	171			Extracellular (Potential).			
OR5K1	0	broad.mit.edu	GRCh37	3	98189045	98189045	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-76-6191-01	TCGA-76-6191-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332650.5:c.625T>A	p.Phe209Ile	p.F209I	ENST00000332650	NM_001004736.2	209	Ttt/Att	0			1			A	F/I	uc003dsm.2	protein_coding	YES	CCDS43115.1			625/927									large_intestine(1)	1	c.(625-627)TTT>ATT			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF38,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 5, subfamily K,				ENSP00000373193		1-Jan										1-Jan	.		ENST00000332650	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000232382	g.chr3:98189045T>A	8349			MODERATE		0.785	neutral	getma.org/?cm=msa&ty=f&p=OR5K1_HUMAN&rb=139&re=283&var=F209I	NA	getma.org/?cm=var&var=hg19,3,98189045,T,A&fts=all	F209I	3.085	medium	1																																				1		probably_damaging(0.999)	p.F209I	NM_001004736	NP_001004736		deleterious(0.05)		OR5K1_HUMAN	OR5K1	HGNC	Q8NHB7	OR5K1_HUMAN					1	625	+			UPI000013F5A3	209			Helical; Name=5; (Potential).		SNV	OR5K1,missense_variant,p.Phe209Ile,ENST00000332650,NM_001004736.2;	uc003dsm.2	c.625T>A	722/1097	1	1			c.625T>A						3	SNP	c.(625-627)TTT>ATT	58	58			large_intestine(1)	1	Broad	olfactory receptor, family 5, subfamily K,			98189045		0.353	ENSG00000232382	10975	g.chr3:98189045T>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							146.943997	KEEP	25	28	-1	36	52	25	28	-1	148.363591	36	52	0.387597	1	0	0	0	0	1	0	0	0	3.085	medium		0	A				274	GBM-76-6191-TP	p.F209I	T	AGTTCAAGTCTTTACCATAGG	NM_001004736	NP_001004736	98189045	Q8NHB7	OR5K1_HUMAN	0			1	625	+	A	A			Missense_Mutation	209			Helical; Name=5; (Potential).			
OR5K2	0	broad.mit.edu	GRCh37	3	98216751	98216751	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000427338.1:c.227C>G	p.Ala76Gly	p.A76G	ENST00000427338	NM_001004737.1	76	gCt/gGt	0			1			G	A/G	uc011bgx.1	protein_coding	YES	CCDS33804.1			227/951									ovary(2)	2	c.(226-228)GCT>GGT			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF38,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily K,				ENSP00000393889		1-Jan									COSM3408929	1-Jan	.		ENST00000427338	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000231861	g.chr3:98216751C>G	14774			MODERATE		2.155	medium	getma.org/?cm=msa&ty=f&p=OR5K2_HUMAN&rb=1&re=138&var=A76G	getma.org/pdb.php?prot=OR5K2_HUMAN&from=1&to=138&var=A76G	getma.org/?cm=var&var=hg19,3,98216751,C,G&fts=all	A76G	--	--	1																																			1	1		benign(0.053)	p.A76G	NM_001004737	NP_001004737		deleterious(0.02)	1	OR5K2_HUMAN	OR5K2	HGNC	Q8NHB8	OR5K2_HUMAN					1	227	+			UPI000004B1DF	76			Extracellular (Potential).		SNV	OR5K2,missense_variant,p.Ala76Gly,ENST00000427338,NM_001004737.1;CLDND1,downstream_gene_variant,,ENST00000507874,;CLDND1,downstream_gene_variant,,ENST00000502288,;	uc011bgx.1	c.227C>G	304/1049	3	3			c.227C>G						3	SNP	c.(226-228)GCT>GGT	14	14			ovary(2)	2	Broad	olfactory receptor, family 5, subfamily K,			98216751		0.413	ENSG00000231861	10976	g.chr3:98216751C>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							178.363932	KEEP	34	45	-1	158	196	34	45	-1	206.787906	158	196	0.198813	1	0	0	0	0	1	0	0	0	--	--		0	G				160	GBM-19-1790-TP	p.A76G	C	TGTGCCTGTGCTATTACCCCC	NM_001004737	NP_001004737	98216751	Q8NHB8	OR5K2_HUMAN	0			1	227	+	G	G			Missense_Mutation	76			Extracellular (Potential).			
OR5K4	403278	broad.mit.edu	GRCh37	3	98072858	98072858	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0745-01	TCGA-06-0745-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354924.2:c.161G>A	p.Arg54His	p.R54H	ENST00000354924	NM_001005517.1	54	cGt/cAt	0	A:0		1			A	R/H	uc011bgv.1	protein_coding	YES	CCDS33802.1			161/966									central_nervous_system(1)	1	c.(160-162)CGT>CAT			PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF198,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily K,			A:0.0001	ENSP00000347003		1-Jan	3.29E-05				0.000151	3.00E-05		6.06E-05	rs201188789,COSM2151752	1-Jan	.		ENST00000354924	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000196098	g.chr3:98072858G>A	31291			MODERATE		0.39	neutral	getma.org/?cm=msa&ty=f&p=OR5K4_HUMAN&rb=1&re=138&var=R54H	getma.org/pdb.php?prot=OR5K4_HUMAN&from=1&to=138&var=R54H	getma.org/?cm=var&var=hg19,3,98072858,G,A&fts=all	R54H	--	--	1																																			0,1	1		benign(0.004)	p.R54H	NM_001005517	NP_001005517		tolerated(1)	0,1	OR5K4_HUMAN	OR5K4	HGNC	A6NMS3	OR5K4_HUMAN					1	161	+			UPI000044D411	54			Cytoplasmic (Potential).		SNV	OR5K4,missense_variant,p.Arg54His,ENST00000354924,NM_001005517.1;RP11-325B23.2,intron_variant,,ENST00000508616,;	uc011bgv.1	c.161G>A	161/966	2	2			c.161G>A						3	SNP	c.(160-162)CGT>CAT	45	45			central_nervous_system(1)	1	Broad	olfactory receptor, family 5, subfamily K,			98072858		0.473	ENSG00000196098	10978	g.chr3:98072858G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							563.990521	KEEP	118	64	-1	75	34	118	64	-1	568.772525	75	34	0.642857	1	0	0	0	0	1	0	0	0	--	--		0	A				67	GBM-06-0745-TP	p.R54H	G	GTAGAGCGTCGTCTTCTCACA	NM_001005517	NP_001005517	98072858	A6NMS3	OR5K4_HUMAN	0			1	161	+	A	A			Missense_Mutation	54			Cytoplasmic (Potential).			
OR5K4	0	broad.mit.edu	GRCh37	3	98072705	98072705	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354924.2:c.8G>T	p.Arg3Met	p.R3M	ENST00000354924	NM_001005517.1	3	aGg/aTg	0			1			T	R/M	uc011bgv.1	protein_coding	YES	CCDS33802.1			8/966									central_nervous_system(1)	1	c.(7-9)AGG>ATG			hmmpanther:PTHR26452:SF198,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily K,				ENSP00000347003		1-Jan									COSM2155243	1-Jan	.		ENST00000354924	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000196098	g.chr3:98072705G>T	31291			MODERATE		-0.455	neutral	getma.org/?cm=msa&ty=f&p=OR5K4_HUMAN&rb=1&re=138&var=R3M	NA	getma.org/?cm=var&var=hg19,3,98072705,G,T&fts=all	R3M	--	--	1																																			1	1		benign(0.004)	p.R3M	NM_001005517	NP_001005517		deleterious(0.03)	1	OR5K4_HUMAN	OR5K4	HGNC	A6NMS3	OR5K4_HUMAN					1	8	+			UPI000044D411	3			Extracellular (Potential).		SNV	OR5K4,missense_variant,p.Arg3Met,ENST00000354924,NM_001005517.1;RP11-325B23.2,intron_variant,,ENST00000508616,;	uc011bgv.1	c.8G>T	8/966	2	2			c.8G>T						3	SNP	c.(7-9)AGG>ATG	25	25			central_nervous_system(1)	1	Broad	olfactory receptor, family 5, subfamily K,			98072705		0.393	ENSG00000196098	10978	g.chr3:98072705G>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							127.070251	KEEP	27	23	0.54	52	51	27	23	0.54	130.357881	52	51	0.338028	1	0	0	0	0	1	0	0	0	--	--		0	T				142	GBM-14-1034-TP	p.R3M	G	GGAATGGCTAGGGAAAATCAC	NM_001005517	NP_001005517	98072705	A6NMS3	OR5K4_HUMAN	0			1	8	+	T	T			Missense_Mutation	3			Extracellular (Potential).			
OR5K4	0	broad.mit.edu	GRCh37	3	98072818	98072818	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-1747-01	TCGA-28-1747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354924.2:c.121G>A	p.Gly41Arg	p.G41R	ENST00000354924	NM_001005517.1	41	Ggg/Agg	0			1			A	G/R	uc011bgv.1	protein_coding	YES	CCDS33802.1			121/966									central_nervous_system(1)	1	c.(121-123)GGG>AGG			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF198,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 5, subfamily K,				ENSP00000347003		1-Jan									COSM3408927	1-Jan	.		ENST00000354924	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000196098	g.chr3:98072818G>A	31291			MODERATE		3.305	medium	getma.org/?cm=msa&ty=f&p=OR5K4_HUMAN&rb=1&re=138&var=G41R	getma.org/pdb.php?prot=OR5K4_HUMAN&from=1&to=138&var=G41R	getma.org/?cm=var&var=hg19,3,98072818,G,A&fts=all	G41R	--	--	1																																			1	1		probably_damaging(0.988)	p.G41R	NM_001005517	NP_001005517		deleterious(0)	1	OR5K4_HUMAN	OR5K4	HGNC	A6NMS3	OR5K4_HUMAN					1	121	+			UPI000044D411	41			Helical; Name=1; (Potential).		SNV	OR5K4,missense_variant,p.Gly41Arg,ENST00000354924,NM_001005517.1;RP11-325B23.2,intron_variant,,ENST00000508616,;	uc011bgv.1	c.121G>A	121/966	2	2			c.121G>A						3	SNP	c.(121-123)GGG>AGG	20	20			central_nervous_system(1)	1	Broad	olfactory receptor, family 5, subfamily K,			98072818		0.458	ENSG00000196098	10978	g.chr3:98072818G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							611.78011	KEEP	103	111	-1	199	199	103	111	-1	621.485845	199	199	0.360771	1	0	0	0	0	1	0	0	0	--	--		0	A				206	GBM-28-1747-TP	p.G41R	G	CACCATGGTGGGGAATCTTGG	NM_001005517	NP_001005517	98072818	A6NMS3	OR5K4_HUMAN	0			1	121	+	A	A			Missense_Mutation	41			Helical; Name=1; (Potential).			
OR5K4	403278		GRCh37	3	98073062	98073062	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000354924.2:c.365G>A	p.Arg122His	p.R122H	ENST00000354924	NM_001005517.1	122	cGc/cAc	0																																																																																																																																																																																																																																												
OR5L1	219437	broad.mit.edu	GRCh37	11	55579759	55579759	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-02-2483-01	TCGA-02-2483-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333973.2:c.817G>T	p.Val273Leu	p.V273L	ENST00000333973	NM_001004738.1	273	Gtg/Ttg	0			1			T	V/L	uc001nhw.1	protein_coding	YES	CCDS31509.1			817/936									skin(3)|ovary(2)	5	c.(817-819)GTG>TTG			Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF154,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily L,				ENSP00000335529		1-Jan									COSM2149159	1-Jan	.		ENST00000333973	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000186117	g.chr11:55579759G>T	8350			MODERATE		1.035	low	getma.org/?cm=msa&ty=f&p=OR5L1_HUMAN&rb=139&re=283&var=V273L	NA	getma.org/?cm=var&var=hg19,11,55579759,G,T&fts=all	V273L	--	--	1																																			1	1		possibly_damaging(0.841)	p.V273L	NM_001004738	NP_001004738		deleterious(0)	1	OR5L1_HUMAN	OR5L1	HGNC	Q8NGL2	OR5L1_HUMAN					1	817	+		all_epithelial(135;0.208)	UPI0000041864	273			Helical; Name=7; (Potential).		SNV	OR5L1,missense_variant,p.Val273Leu,ENST00000333973,NM_001004738.1;	uc001nhw.1	c.817G>T	906/1099	1	1			c.817G>T						11	SNP	c.(817-819)GTG>TTG	16	16			skin(3)|ovary(2)	5	Broad	olfactory receptor, family 5, subfamily L,			55579759		0.473	ENSG00000186117	10979	g.chr11:55579759G>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							109.696977	KEEP	22	21	0.511627907	41	33	22	21	0.511627907	111.519777	41	33	0.356436	1	0	0	0	0	1	0	0	0	--	--		0	T				6	GBM-02-2483-TP	p.V273L	G	TGCTGACAAAGTGGCCACCGT	NM_001004738	NP_001004738	55579759	Q8NGL2	OR5L1_HUMAN	0			1	817	+	T	T		all_epithelial(135;0.208)	Missense_Mutation	273			Helical; Name=7; (Potential).			
OR5L1	0	broad.mit.edu	GRCh37	11	55579768	55579768	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01	TCGA-26-6174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333973.2:c.826G>A	p.Val276Met	p.V276M	ENST00000333973	NM_001004738.1	276	Gtg/Atg	0		A:0	1	A:0		A	V/M	uc001nhw.1	protein_coding	YES	CCDS31509.1			826/936									skin(3)|ovary(2)	5	c.(826-828)GTG>ATG			Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF154,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 5, subfamily L,		A:0		ENSP00000335529	A:0	1-Jan	0.00246		8.69E-05			3.00E-05		0.0179	rs541042751,COSM3397793	1-Jan	common_variant		ENST00000333973	Transcript		A:0.0042	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000186117	g.chr11:55579768G>A	8350			MODERATE		2.17	medium	getma.org/?cm=msa&ty=f&p=OR5L1_HUMAN&rb=139&re=283&var=V276M	NA	getma.org/?cm=var&var=hg19,11,55579768,G,A&fts=all	V276M	--	--	1																																			0,1	1		possibly_damaging(0.906)	p.V276M	NM_001004738	NP_001004738	A:0.0215	deleterious(0)	0,1	OR5L1_HUMAN	OR5L1	HGNC	Q8NGL2	OR5L1_HUMAN					1	826	+		all_epithelial(135;0.208)	UPI0000041864	276			Helical; Name=7; (Potential).		SNV	OR5L1,missense_variant,p.Val276Met,ENST00000333973,NM_001004738.1;	uc001nhw.1	c.826G>A	915/1099	1	1			c.826G>A						11	SNP	c.(826-828)GTG>ATG	62	62			skin(3)|ovary(2)	5	Broad	olfactory receptor, family 5, subfamily L,			55579768		0.458	ENSG00000186117	10979	g.chr11:55579768G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							31.01435	KEEP	6	8	-1	20	34	6	8	-1	35.488523	20	34	0.222222	1	0	0	0	0	1	0	0	0	--	--		0	A				188	GBM-26-6174-TP	p.V276M	G	AGTGGCCACCGTGTTCTACAC	NM_001004738	NP_001004738	55579768	Q8NGL2	OR5L1_HUMAN	0			1	826	+	A	A		all_epithelial(135;0.208)	Missense_Mutation	276			Helical; Name=7; (Potential).			
OR5L1	219437		GRCh37	11	55579782	55579782	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000333973.2:c.840C>T	p.Val280=	p.V280=	ENST00000333973	NM_001004738.1	280	gtC/gtT	0																																																																																																																																																																																																																																												
OR5L2	26338	broad.mit.edu	GRCh37	11	55594866	55594866	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0877-01	TCGA-06-0877-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378397.1:c.172C>A	p.Pro58Thr	p.P58T	ENST00000378397	NM_001004739.1	58	Ccc/Acc	0			1			A	P/T	uc001nhy.1	protein_coding	YES	CCDS31511.1			172/936									ovary(1)	1	c.(172-174)CCC>ACC			Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF154,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily L,				ENSP00000367650		1-Jan									COSM2152176	1-Jan	.		ENST00000378397	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000205030	g.chr11:55594866C>A	8351			MODERATE		4.06	high	getma.org/?cm=msa&ty=f&p=OR5L2_HUMAN&rb=1&re=138&var=P58T	getma.org/pdb.php?prot=OR5L2_HUMAN&from=1&to=138&var=P58T	getma.org/?cm=var&var=hg19,11,55594866,C,A&fts=all	P58T	--	--	1				HNSCC(27;0.073)																															1	1		probably_damaging(0.999)	p.P58T	NM_001004739	NP_001004739		deleterious(0.01)	1	OR5L2_HUMAN	OR5L2	HGNC	Q8NGL0	OR5L2_HUMAN					1	172	+		all_epithelial(135;0.208)	UPI0000041C49	58			Helical; Name=2; (Potential).		SNV	OR5L2,missense_variant,p.Pro58Thr,ENST00000378397,NM_001004739.1;	uc001nhy.1	c.172C>A	172/936	1	1			c.172C>A						11	SNP	c.(172-174)CCC>ACC	60	60			ovary(1)	1	Broad	olfactory receptor, family 5, subfamily L,			55594866		0.468	ENSG00000205030	10980	g.chr11:55594866C>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							315.191775	KEEP	84	56	0.4	175	144	84	56	0.4	328.48551	175	144	0.306733	1	0	0	0	0	1	0	0	0	--	--	HNSCC(27;0.073)	0	A				73	GBM-06-0877-TP	p.P58T	C	GCTCCACACCCCCGTGTACTT	NM_001004739	NP_001004739	55594866	Q8NGL0	OR5L2_HUMAN	0			1	172	+	A	A		all_epithelial(135;0.208)	Missense_Mutation	58			Helical; Name=2; (Potential).			
OR5L2	26338	broad.mit.edu	GRCh37	11	55594870	55594870	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-5408-01	TCGA-06-5408-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378397.1:c.176T>A	p.Val59Glu	p.V59E	ENST00000378397	NM_001004739.1	59	gTg/gAg	0			1			A	V/E	uc001nhy.1	protein_coding	YES	CCDS31511.1			176/936									ovary(1)	1	c.(175-177)GTG>GAG			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF154,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 5, subfamily L,				ENSP00000367650		1-Jan									COSM3397797	1-Jan	.		ENST00000378397	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000205030	g.chr11:55594870T>A	8351			MODERATE		1.2	low	getma.org/?cm=msa&ty=f&p=OR5L2_HUMAN&rb=1&re=138&var=V59E	getma.org/pdb.php?prot=OR5L2_HUMAN&from=1&to=138&var=V59E	getma.org/?cm=var&var=hg19,11,55594870,T,A&fts=all	V59E	--	--	1				HNSCC(27;0.073)																															1	1		benign(0.058)	p.V59E	NM_001004739	NP_001004739		deleterious(0)	1	OR5L2_HUMAN	OR5L2	HGNC	Q8NGL0	OR5L2_HUMAN					1	176	+		all_epithelial(135;0.208)	UPI0000041C49	59			Helical; Name=2; (Potential).		SNV	OR5L2,missense_variant,p.Val59Glu,ENST00000378397,NM_001004739.1;	uc001nhy.1	c.176T>A	176/936	2	2			c.176T>A						11	SNP	c.(175-177)GTG>GAG	21	21			ovary(1)	1	Broad	olfactory receptor, family 5, subfamily L,			55594870		0.468	ENSG00000205030	10980	g.chr11:55594870T>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							340.394897	KEEP	45	78	-1	65	76	45	78	-1	340.782241	65	76	0.456897	1	0	0	0	0	1	0	0	0	--	--	HNSCC(27;0.073)	0	A				92	GBM-06-5408-TP	p.V59E	T	CACACCCCCGTGTACTTTTTC	NM_001004739	NP_001004739	55594870	Q8NGL0	OR5L2_HUMAN	0			1	176	+	A	A		all_epithelial(135;0.208)	Missense_Mutation	59			Helical; Name=2; (Potential).			
OR5L2	0	broad.mit.edu	GRCh37	11	55594981	55594981	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-28-5219-01	TCGA-28-5219-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378397.1:c.287G>T	p.Gly96Val	p.G96V	ENST00000378397	NM_001004739.1	96	gGg/gTg	0			1			T	G/V	uc001nhy.1	protein_coding	YES	CCDS31511.1			287/936									ovary(1)	1	c.(286-288)GGG>GTG			Gene3D:1.20.1070.10,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF154,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 5, subfamily L,				ENSP00000367650		1-Jan									COSM1508529	1-Jan	.		ENST00000378397	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000205030	g.chr11:55594981G>T	8351			MODERATE		3.015	medium	getma.org/?cm=msa&ty=f&p=OR5L2_HUMAN&rb=1&re=138&var=G96V	getma.org/pdb.php?prot=OR5L2_HUMAN&from=1&to=138&var=G96V	getma.org/?cm=var&var=hg19,11,55594981,G,T&fts=all	G96V	--	--	1				HNSCC(27;0.073)																															1	1		possibly_damaging(0.448)	p.G96V	NM_001004739	NP_001004739		deleterious(0.01)	1	OR5L2_HUMAN	OR5L2	HGNC	Q8NGL0	OR5L2_HUMAN					1	287	+		all_epithelial(135;0.208)	UPI0000041C49	96			Extracellular (Potential).		SNV	OR5L2,missense_variant,p.Gly96Val,ENST00000378397,NM_001004739.1;	uc001nhy.1	c.287G>T	287/936	1	1			c.287G>T						11	SNP	c.(286-288)GGG>GTG	4	4			ovary(1)	1	Broad	olfactory receptor, family 5, subfamily L,			55594981		0.473	ENSG00000205030	10980	g.chr11:55594981G>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							422.766604	KEEP	69	84	0.450980392	127	133	69	84	0.450980392	426.818516	127	133	0.390052	1	0	0	0	0	1	0	0	0	--	--	HNSCC(27;0.073)	0	T				225	GBM-28-5219-TP	p.G96V	G	TCCTTCCTAGGGTGCATGGTG	NM_001004739	NP_001004739	55594981	Q8NGL0	OR5L2_HUMAN	0			1	287	+	T	T		all_epithelial(135;0.208)	Missense_Mutation	96			Extracellular (Potential).			
OR5M1	0	broad.mit.edu	GRCh37	11	56380529	56380529	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1825-01	TCGA-14-1825-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000526538.1:c.450G>A	p.Met150Ile	p.M150I	ENST00000526538	NM_001004740.1	150	atG/atA	0			1			T	M/I	uc001nja.1	protein_coding	YES	CCDS53631.1			450/948									central_nervous_system(1)	1	c.(448-450)ATG>ATA			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF98,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 5, subfamily M,				ENSP00000435416		1-Jan									COSM3397854	1-Jan	.		ENST00000526538	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000255012	g.chr11:56380529C>T	8352			MODERATE		-0.415	neutral	getma.org/?cm=msa&ty=f&p=OR5M1_HUMAN&rb=139&re=283&var=M150I	NA	getma.org/?cm=var&var=hg19,11,56380529,C,T&fts=all	M150I	--	--	1																																			1	1		benign(0)	p.M150I	NM_001004740	NP_001004740		tolerated(0.75)	1	OR5M1_HUMAN	OR5M1	HGNC	Q8NGP8	OR5M1_HUMAN					1	450	-			UPI0000041C9B	150			Helical; Name=4; (Potential).		SNV	OR5M1,missense_variant,p.Met150Ile,ENST00000526538,NM_001004740.1;	uc001nja.1	c.450G>A	450/948	2	2			c.450G>A						11	SNP	c.(448-450)ATG>ATA	21	21			central_nervous_system(1)	1	Broad	olfactory receptor, family 5, subfamily M,			56380529		0.458	ENSG00000255012	10981	g.chr11:56380529C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							61.362324	KEEP	15	14	-1	35	23	15	14	-1	64.225405	35	23	0.3	1	0	0	0	0	1	0	0	0	--	--		0	T				148	GBM-14-1825-TP	p.M150I	C	GAAACCCATACATGTAAGGGA	NM_001004740	NP_001004740	56380529	Q8NGP8	OR5M1_HUMAN	0			1	450	-	T	T			Missense_Mutation	150			Helical; Name=4; (Potential).			
OR5M1	390168		GRCh37	11	56380780	56380780	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000526538.1:c.199T>C	p.Ser67Pro	p.S67P	ENST00000526538	NM_001004740.1	67	Tcc/Ccc	0																																																																																																																																																																																																																																												
OR5M10	390167	broad.mit.edu	GRCh37	11	56344526	56344526	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0939-01	TCGA-06-0939-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000526812.2:c.672G>A	p.Ala224=	p.A224=	ENST00000526812	NM_001004741.1	224	gcG/gcA	0			1			T	A	uc001niz.1	protein_coding	YES	CCDS53630.1			672/948										0	c.(670-672)GCG>GCA			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF98,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily M,				ENSP00000436004		1-Jan	1.66E-05					1.51E-05		6.06E-05	rs772311852,COSM3397852	1-Jan	.		ENST00000526812	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000254834	g.chr11:56344526C>T	15290			LOW								--	--	1																																			0,1	1			p.A224A	NM_001004741	NP_001004741			0,1	OR5MA_HUMAN	OR5M10	HGNC	Q6IEU7	OR5MA_HUMAN					1	672	-			UPI0000041BEE	224			Cytoplasmic (Potential).		SNV	OR5M10,synonymous_variant,p.=,ENST00000526812,NM_001004741.1;	uc001niz.1	c.672G>A	738/1052	1	1			c.672G>A						11	SNP	c.(670-672)GCG>GCA	4	4				0	Broad	olfactory receptor, family 5, subfamily M,			56344526		0.443	ENSG00000254834	10982	g.chr11:56344526C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							81.543041	KEEP	22	27	-1	71	92	22	27	-1	87.11872	71	92	0.271186	1	0	0	0	0	0	0	1	0	--	--		0	T				78	GBM-06-0939-TP	p.A224A	C	TCCTGAAGATCGCTGCAAAAA	NM_001004741	NP_001004741	56344526	Q6IEU7	OR5MA_HUMAN	0			1	672	-	T	T			Silent	224			Cytoplasmic (Potential).			
OR5M11	219487	broad.mit.edu	GRCh37	11	56310330	56310330	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-02-2485-01	TCGA-02-2485-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000528616.2:c.404C>G	p.Thr135Arg	p.T135R	ENST00000528616	NM_001005245.1	135	aCg/aGg	0			1			C	T/R	uc010rjl.1	protein_coding	YES	CCDS53629.1			404/918										0	c.(403-405)ACG>AGG			Gene3D:1.20.1070.10,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF97,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily M,				ENSP00000432417		1-Jan									COSM3397849,COSM3397848	1-Jan	.		ENST00000528616	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000255223	g.chr11:56310330G>C	15291			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=OR5MB_HUMAN&rb=1&re=137&var=T135R	NA	getma.org/?cm=var&var=hg19,11,56310330,G,C&fts=all	T135R	--	--	1																																			1,1	1		benign(0.094)	p.T135R	NM_001005245	NP_001005245		deleterious(0.01)	1,1	OR5MB_HUMAN	OR5M11	HGNC	Q96RB7	OR5MB_HUMAN					1	404	-			UPI00000405CF	135			Cytoplasmic (Potential).		SNV	OR5M11,missense_variant,p.Thr135Arg,ENST00000528616,NM_001005245.1;	uc010rjl.1	c.404C>G	428/1012	3	3			c.404C>G						11	SNP	c.(403-405)ACG>AGG	13	13				0	Broad	olfactory receptor, family 5, subfamily M,			56310330		0.498	ENSG00000255223	10983	g.chr11:56310330G>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							67.080799	KEEP	11	11	-1	10	18	11	11	-1	67.253212	10	18	0.434783	1	0	0	0	0	1	0	0	0	--	--		0	C				7	GBM-02-2485-TP	p.T135R	G	TCTCCTGGACGTTTTCACACT	NM_001005245	NP_001005245	56310330	Q96RB7	OR5MB_HUMAN	0			1	404	-	C	C			Missense_Mutation	135			Cytoplasmic (Potential).			
OR5M11	0	broad.mit.edu	GRCh37	11	56310099	56310099	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-32-4210-01	TCGA-32-4210-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000528616.2:c.635T>A	p.Ile212Asn	p.I212N	ENST00000528616	NM_001005245.1	212	aTc/aAc	0		T:0.0008	1	T:0		T	I/N	uc010rjl.1	protein_coding	YES	CCDS53629.1			635/918										0	c.(634-636)ATC>AAC			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF97,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 5, subfamily M,		T:0		ENSP00000432417	T:0	1-Jan									rs570645003,COSM3397847,COSM3397846	1-Jan	.		ENST00000528616	Transcript		T:0.0002	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000255223	g.chr11:56310099A>T	15291			MODERATE		2.845	medium	getma.org/?cm=msa&ty=f&p=OR5MB_HUMAN&rb=138&re=282&var=I212N	NA	getma.org/?cm=var&var=hg19,11,56310099,A,T&fts=all	I212N	--	--	1																																			0,1,1	1		probably_damaging(0.981)	p.I212N	NM_001005245	NP_001005245	T:0	deleterious(0)	0,1,1	OR5MB_HUMAN	OR5M11	HGNC	Q96RB7	OR5MB_HUMAN					1	635	-			UPI00000405CF	212			Helical; Name=5; (Potential).		SNV	OR5M11,missense_variant,p.Ile212Asn,ENST00000528616,NM_001005245.1;	uc010rjl.1	c.635T>A	659/1012	2	2			c.635T>A						11	SNP	c.(634-636)ATC>AAC	21	21				0	Broad	olfactory receptor, family 5, subfamily M,			56310099		0.502	ENSG00000255223	10983	g.chr11:56310099A>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							91.072726	KEEP	16	13	-1	23	22	16	13	-1	91.391243	23	22	0.426471	1	0	0	0	0	1	0	0	0	--	--		0	T				245	GBM-32-4210-TP	p.I212N	A	CACCAAGACGATGGTGAGGGA	NM_001005245	NP_001005245	56310099	Q96RB7	OR5MB_HUMAN	0			1	635	-	T	T			Missense_Mutation	212			Helical; Name=5; (Potential).			
OR5M3	219482	broad.mit.edu	GRCh37	11	56237516	56237516	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01	TCGA-02-0047-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312240.2:c.458C>T	p.Thr153Met	p.T153M	ENST00000312240	NM_001004742.2	153	aCg/aTg	0			1			A	T/M	uc010rjk.1	protein_coding	YES	CCDS31532.1			458/924									ovary(2)	2	c.(457-459)ACG>ATG			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF17,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily M,				ENSP00000312208		1-Jan									COSM2149020	1-Jan	.		ENST00000312240	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000174937	g.chr11:56237516G>A	14806			MODERATE		0.91	low	getma.org/?cm=msa&ty=f&p=OR5M3_HUMAN&rb=137&re=281&var=T153M	NA	getma.org/?cm=var&var=hg19,11,56237516,G,A&fts=all	T153M	--	--	1																																			1	1		benign(0.042)	p.T153M	NM_001004742	NP_001004742		tolerated(0.25)	1	OR5M3_HUMAN	OR5M3	HGNC	Q8NGP4	OR5M3_HUMAN					1	458	-	Esophageal squamous(21;0.00448)		UPI0000041BAA	153			Helical; Name=4; (Potential).		SNV	OR5M3,missense_variant,p.Thr153Met,ENST00000312240,NM_001004742.2;	uc010rjk.1	c.458C>T	499/1051	1	1			c.458C>T						11	SNP	c.(457-459)ACG>ATG	62	62			ovary(2)	2	Broad	olfactory receptor, family 5, subfamily M,			56237516		0.413	ENSG00000174937	10984	g.chr11:56237516G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							230.182388	KEEP	54	49	-1	87	72	54	49	-1	232.112068	87	72	0.395	1	0	0	0	0	1	0	0	0	--	--		0	A				3	GBM-02-0047-TP	p.T153M	G	TGCCAGACTCGTCAGAAAACC	NM_001004742	NP_001004742	56237516	Q8NGP4	OR5M3_HUMAN	0			1	458	-	A	A	Esophageal squamous(21;0.00448)		Missense_Mutation	153			Helical; Name=4; (Potential).			
OR5M3	219482	broad.mit.edu	GRCh37	11	56237921	56237921	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs142752109		TCGA-06-0125-01	TCGA-06-0125-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312240.2:c.53G>A	p.Arg18His	p.R18H	ENST00000312240	NM_001004742.2	18	cGt/cAt	0	T:0.0002		1			T	R/H	uc010rjk.1	protein_coding	YES	CCDS31532.1			53/924									ovary(2)	2	c.(52-54)CGT>CAT			hmmpanther:PTHR26452:SF17,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily M,			T:0.0001	ENSP00000312208		1-Jan	6.59E-05	9.67E-05	8.73E-05	0.000116		6.05E-05		6.32E-05	rs142752109,COSM287465	1-Jan	.		ENST00000312240	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000174937	g.chr11:56237921C>T	14806			MODERATE		0.155	neutral	getma.org/?cm=msa&ty=f&p=OR5M3_HUMAN&rb=1&re=136&var=R18H	NA	getma.org/?cm=var&var=hg19,11,56237921,C,T&fts=all	R18H	--	--	1																																			0,1	1		benign(0)	p.R18H	NM_001004742	NP_001004742		tolerated(0.38)	0,1	OR5M3_HUMAN	OR5M3	HGNC	Q8NGP4	OR5M3_HUMAN					1	53	-	Esophageal squamous(21;0.00448)		UPI0000041BAA	18			Extracellular (Potential).		SNV	OR5M3,missense_variant,p.Arg18His,ENST00000312240,NM_001004742.2;	uc010rjk.1	c.53G>A	94/1051	2	2			c.53G>A						11	SNP	c.(52-54)CGT>CAT	37	37			ovary(2)	2	Broad	olfactory receptor, family 5, subfamily M,			56237921		0.398	ENSG00000174937	10984	g.chr11:56237921C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-11.60991	KEEP	4	2	-1	63	51	4	2	-1	10.704179	63	51	0.048544	1	0	0	0	0	1	0	0	0	--	--		0	T				12	GBM-06-0125-TP	p.R18H	C	CCATTCTCGACGGCTCGTTAG	NM_001004742	NP_001004742	56237921	Q8NGP4	OR5M3_HUMAN	0			1	53	-	T	T	Esophageal squamous(21;0.00448)		Missense_Mutation	18			Extracellular (Potential).			
OR5M3	219482	broad.mit.edu	GRCh37	11	56237372	56237372	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312240.2:c.602C>T	p.Ala201Val	p.A201V	ENST00000312240	NM_001004742.2	201	gCc/gTc	0			1			A	A/V	uc010rjk.1	protein_coding	YES	CCDS31532.1			602/924									ovary(2)	2	c.(601-603)GCC>GTC			PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF17,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 5, subfamily M,				ENSP00000312208		1-Jan									COSM3397841	1-Jan	.		ENST00000312240	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000174937	g.chr11:56237372G>A	14806			MODERATE		2.055	medium	getma.org/?cm=msa&ty=f&p=OR5M3_HUMAN&rb=137&re=281&var=A201V	NA	getma.org/?cm=var&var=hg19,11,56237372,G,A&fts=all	A201V	--	--	1																																			1	1		benign(0.069)	p.A201V	NM_001004742	NP_001004742		deleterious(0.01)	1	OR5M3_HUMAN	OR5M3	HGNC	Q8NGP4	OR5M3_HUMAN					1	602	-	Esophageal squamous(21;0.00448)		UPI0000041BAA	201			Helical; Name=5; (Potential).		SNV	OR5M3,missense_variant,p.Ala201Val,ENST00000312240,NM_001004742.2;	uc010rjk.1	c.602C>T	643/1051	2	2			c.602C>T						11	SNP	c.(601-603)GCC>GTC	32	32			ovary(2)	2	Broad	olfactory receptor, family 5, subfamily M,			56237372		0.413	ENSG00000174937	10984	g.chr11:56237372G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-44.982948	KEEP	4	0	-1	128	94	4	0	-1	6.706552	128	94	0.02	1	0	0	0	0	1	0	0	0	--	--		0	A				26	GBM-06-0154-TP	p.A201V	G	GTTAATGCCGGCAAGTATGAT	NM_001004742	NP_001004742	56237372	Q8NGP4	OR5M3_HUMAN	0			1	602	-	A	A	Esophageal squamous(21;0.00448)		Missense_Mutation	201			Helical; Name=5; (Potential).			
OR5M3	219482	broad.mit.edu	GRCh37	11	56237927	56237927	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs147367874	byFrequency	TCGA-06-0648-01	TCGA-06-0648-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312240.2:c.47C>T	p.Thr16Met	p.T16M	ENST00000312240	NM_001004742.2	16	aCg/aTg	0	A:0.0145	A:0.0136	1	A:0		A	T/M	uc010rjk.1	protein_coding	YES	CCDS31532.1			47/924									ovary(2)	2	c.(46-48)ACG>ATG			hmmpanther:PTHR26452:SF17,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily M,		A:0	A:0.0005	ENSP00000312208	A:0.001	1-Jan	0.00127	0.0128	0.000612			0.000227			rs147367874,COSM2151405	1-Jan	common_variant		ENST00000312240	Transcript		A:0.0038	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000174937	g.chr11:56237927G>A	14806			MODERATE		2.77	medium	getma.org/?cm=msa&ty=f&p=OR5M3_HUMAN&rb=1&re=136&var=T16M	NA	getma.org/?cm=var&var=hg19,11,56237927,G,A&fts=all	T16M	--	--	1																																			0,1	1		probably_damaging(0.97)	p.T16M	NM_001004742	NP_001004742	A:0	deleterious(0)	0,1	OR5M3_HUMAN	OR5M3	HGNC	Q8NGP4	OR5M3_HUMAN					1	47	-	Esophageal squamous(21;0.00448)		UPI0000041BAA	16			Extracellular (Potential).		SNV	OR5M3,missense_variant,p.Thr16Met,ENST00000312240,NM_001004742.2;	uc010rjk.1	c.47C>T	88/1051	1	1			c.47C>T						11	SNP	c.(46-48)ACG>ATG	57	57			ovary(2)	2	Broad	olfactory receptor, family 5, subfamily M,			56237927		0.383	ENSG00000174937	10984	g.chr11:56237927G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							142.554272	KEEP	31	20	-1	32	32	31	20	-1	142.659792	32	32	0.464646	1	0	0	0	0	1	0	0	0	--	--		0	A				61	GBM-06-0648-TP	p.T16M	G	TCGACGGCTCGTTAGCCCCAA	NM_001004742	NP_001004742	56237927	Q8NGP4	OR5M3_HUMAN	0			1	47	-	A	A	Esophageal squamous(21;0.00448)		Missense_Mutation	16			Extracellular (Potential).			
OR5M8	219484	broad.mit.edu	GRCh37	11	56258561	56258561	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0157-01	TCGA-06-0157-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327216.2:c.286T>C	p.Cys96Arg	p.C96R	ENST00000327216	NM_001005282.1	96	Tgt/Cgt	0		G:0	1	G:0		G	C/R	uc001nix.1	protein_coding	YES	CCDS31533.1			286/936									central_nervous_system(1)	1	c.(286-288)TGT>CGT			Gene3D:1.20.1070.10,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF146,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily M,		G:0.002		ENSP00000323354	G:0	1-Jan	0.00014		8.64E-05	0.0015				0.000182	rs546898264,COSM3397843	1-Jan	common_variant		ENST00000327216	Transcript		G:0.0006	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000181371	g.chr11:56258561A>G	14846			MODERATE		3.715	high	getma.org/?cm=msa&ty=f&p=OR5M8_HUMAN&rb=1&re=137&var=C96R	getma.org/pdb.php?prot=OR5M8_HUMAN&from=1&to=137&var=C96R	getma.org/?cm=var&var=hg19,11,56258561,A,G&fts=all	C96R	--	--	1																																			0,1	1		benign(0.417)	p.C96R	NM_001005282	NP_001005282	G:0.001	deleterious(0.01)	0,1	OR5M8_HUMAN	OR5M8	HGNC	Q8NGP6	OR5M8_HUMAN					1	286	-	Esophageal squamous(21;0.00352)		UPI00000405CC	96			Extracellular (Potential).		SNV	OR5M8,missense_variant,p.Cys96Arg,ENST00000327216,NM_001005282.1;CTD-3051L14.13,upstream_gene_variant,,ENST00000525853,;	uc001nix.1	c.286T>C	311/1047	3	3			c.286T>C						11	SNP	c.(286-288)TGT>CGT	5	5			central_nervous_system(1)	1	Broad	olfactory receptor, family 5, subfamily M,			56258561		0.473	ENSG00000181371	10985	g.chr11:56258561A>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-9.508844	KEEP	2	3	-1	48	66	2	3	-1	11.136634	48	66	0.051546	1	0	0	0	0	1	0	0	0	--	--		0	G				28	GBM-06-0157-TP	p.C96R	A	TGCACAAGACAGGCAGGATAG	NM_001005282	NP_001005282	56258561	Q8NGP6	OR5M8_HUMAN	0			1	286	-	G	G	Esophageal squamous(21;0.00352)		Missense_Mutation	96			Extracellular (Potential).			
OR5M8	0	broad.mit.edu	GRCh37	11	56258155	56258155	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-27-1834-01	TCGA-27-1834-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327216.2:c.692A>T	p.Glu231Val	p.E231V	ENST00000327216	NM_001005282.1	231	gAg/gTg	0			1			A	E/V	uc001nix.1	protein_coding	YES	CCDS31533.1			692/936									central_nervous_system(1)	1	c.(691-693)GAG>GTG			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF146,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily M,				ENSP00000323354		1-Jan									COSM3397842	1-Jan	.		ENST00000327216	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000181371	g.chr11:56258155T>A	14846			MODERATE		2.24	medium	getma.org/?cm=msa&ty=f&p=OR5M8_HUMAN&rb=138&re=282&var=E231V	NA	getma.org/?cm=var&var=hg19,11,56258155,T,A&fts=all	E231V	--	--	1																																			1	1		possibly_damaging(0.772)	p.E231V	NM_001005282	NP_001005282		deleterious(0)	1	OR5M8_HUMAN	OR5M8	HGNC	Q8NGP6	OR5M8_HUMAN					1	692	-	Esophageal squamous(21;0.00352)		UPI00000405CC	231			Cytoplasmic (Potential).		SNV	OR5M8,missense_variant,p.Glu231Val,ENST00000327216,NM_001005282.1;	uc001nix.1	c.692A>T	717/1047	1	1			c.692A>T						11	SNP	c.(691-693)GAG>GTG	61	61			central_nervous_system(1)	1	Broad	olfactory receptor, family 5, subfamily M,			56258155		0.413	ENSG00000181371	10985	g.chr11:56258155T>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							59.228252	KEEP	13	10	-1	22	32	13	10	-1	61.512667	22	32	0.309859	1	0	0	0	0	1	0	0	0	--	--		0	A				193	GBM-27-1834-TP	p.E231V	T	TTGCCTGCCCTCTGTAGAGCG	NM_001005282	NP_001005282	56258155	Q8NGP6	OR5M8_HUMAN	0			1	692	-	A	A	Esophageal squamous(21;0.00352)		Missense_Mutation	231			Cytoplasmic (Potential).			
OR5M9	390162	broad.mit.edu	GRCh37	11	56230656	56230656	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000279791.1:c.222C>T	p.Asn74=	p.N74=	ENST00000279791	NM_001004743.1	74	aaC/aaT	0			1			A	N	uc010rjj.1	protein_coding	YES	CCDS31531.1			222/933									skin(2)|ovary(1)|central_nervous_system(1)	4	c.(220-222)AAC>AAT			PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF13,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 5, subfamily M,				ENSP00000279791		1-Jan	3.29E-05					6.01E-05			rs749194186,COSM2151211	1-Jan	.		ENST00000279791	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000150269	g.chr11:56230656G>A	15294			LOW								--	--	1																																			0,1	1			p.N74N	NM_001004743	NP_001004743			0,1	OR5M9_HUMAN	OR5M9	HGNC	Q8NGP3	OR5M9_HUMAN					1	222	-	Esophageal squamous(21;0.00448)		UPI0000061E81	74			Extracellular (Potential).		SNV	OR5M9,synonymous_variant,p.=,ENST00000279791,NM_001004743.1;	uc010rjj.1	c.222C>T	222/933	2	2			c.222C>T						11	SNP	c.(220-222)AAC>AAT	46	46			skin(2)|ovary(1)|central_nervous_system(1)	4	Broad	olfactory receptor, family 5, subfamily M,			56230656		0.438	ENSG00000150269	10986	g.chr11:56230656G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							68.646714	KEEP	11	15	-1	27	32	11	15	-1	71.013473	27	32	0.316456	1	0	0	0	0	0	0	1	0	--	--		0	A				58	GBM-06-0644-TP	p.N74N	G	TGGGGGTAACGTTGGAGGAGA	NM_001004743	NP_001004743	56230656	Q8NGP3	OR5M9_HUMAN	0			1	222	-	A	A	Esophageal squamous(21;0.00448)		Silent	74			Extracellular (Potential).			
OR5M9	0	broad.mit.edu	GRCh37	11	56230864	56230864	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-2554-01	TCGA-14-2554-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000279791.1:c.14C>T	p.Thr5Met	p.T5M	ENST00000279791	NM_001004743.1	5	aCg/aTg	0			1			A	T/M	uc010rjj.1	protein_coding	YES	CCDS31531.1			14/933								p.T5T(1)	skin(2)|ovary(1)|central_nervous_system(1)	4	c.(13-15)ACG>ATG			hmmpanther:PTHR26452:SF13,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily M,				ENSP00000279791		1-Jan	0.000338		0.004						rs762884199,COSM1561348	1-Jan	common_variant		ENST00000279791	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000150269	g.chr11:56230864G>A	15294			MODERATE		3.045	medium	getma.org/?cm=msa&ty=f&p=OR5M9_HUMAN&rb=1&re=136&var=T5M	NA	getma.org/?cm=var&var=hg19,11,56230864,G,A&fts=all	T5M	--	--	1																																			0,1	1		possibly_damaging(0.9)	p.T5M	NM_001004743	NP_001004743		deleterious(0)	0,1	OR5M9_HUMAN	OR5M9	HGNC	Q8NGP3	OR5M9_HUMAN					1	14	-	Esophageal squamous(21;0.00448)		UPI0000061E81	5			Extracellular (Potential).		SNV	OR5M9,missense_variant,p.Thr5Met,ENST00000279791,NM_001004743.1;	uc010rjj.1	c.14C>T	14/933	2	2			c.14C>T						11	SNP	c.(13-15)ACG>ATG	22	22		p.T5T(1)	skin(2)|ovary(1)|central_nervous_system(1)	4	Broad	olfactory receptor, family 5, subfamily M,			56230864		0.408	ENSG00000150269	10986	g.chr11:56230864G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							23.7629	KEEP	3	6	-1	11	12	3	6	-1	24.692874	11	12	0.310345	1	0	0	0	0	1	0	0	0	--	--		0	A				150	GBM-14-2554-TP	p.T5M	G	TGTCACATCCGTGAAATTAGG	NM_001004743	NP_001004743	56230864	Q8NGP3	OR5M9_HUMAN	0			1	14	-	A	A	Esophageal squamous(21;0.00448)		Missense_Mutation	5			Extracellular (Potential).			
OR5M9	0	broad.mit.edu	GRCh37	11	56230082	56230082	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs148447943	byFrequency	TCGA-26-6174-01	TCGA-26-6174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000279791.1:c.796G>A	p.Val266Ile	p.V266I	ENST00000279791	NM_001004743.1	266	Gta/Ata	0	T:0		1			T	V/I	uc010rjj.1	protein_coding	YES	CCDS31531.1			796/933									skin(2)|ovary(1)|central_nervous_system(1)	4	c.(796-798)GTA>ATA			PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF13,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily M,			T:0.0003	ENSP00000279791		1-Jan	0.000247			0.000116		0.000391	0.00111	0.000121	rs148447943,COSM3397840	1-Jan	.		ENST00000279791	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000150269	g.chr11:56230082C>T	15294			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=OR5M9_HUMAN&rb=137&re=281&var=V266I	NA	getma.org/?cm=var&var=hg19,11,56230082,C,T&fts=all	V266I	--	--	1																																			0,1	1		benign(0.066)	p.V266I	NM_001004743	NP_001004743		tolerated(0.08)	0,1	OR5M9_HUMAN	OR5M9	HGNC	Q8NGP3	OR5M9_HUMAN					1	796	-	Esophageal squamous(21;0.00448)		UPI0000061E81	266			Extracellular (Potential).		SNV	OR5M9,missense_variant,p.Val266Ile,ENST00000279791,NM_001004743.1;	uc010rjj.1	c.796G>A	796/933	2	2			c.796G>A						11	SNP	c.(796-798)GTA>ATA	32	32			skin(2)|ovary(1)|central_nervous_system(1)	4	Broad	olfactory receptor, family 5, subfamily M,			56230082		0.468	ENSG00000150269	10986	g.chr11:56230082C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							50.67192	KEEP	10	11	-1	28	28	10	11	-1	53.86968	28	28	0.277778	1	0	0	0	0	1	0	0	0	--	--		0	T				188	GBM-26-6174-TP	p.V266I	C	CCCTGCTCTACGGATTCCTCA	NM_001004743	NP_001004743	56230082	Q8NGP3	OR5M9_HUMAN	0			1	796	-	T	T	Esophageal squamous(21;0.00448)		Missense_Mutation	266			Extracellular (Potential).			
OR5P2	120065	broad.mit.edu	GRCh37	11	7818191	7818191	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0750-01	TCGA-06-0750-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329434.2:c.299C>T	p.Ala100Val	p.A100V	ENST00000329434	NM_153444.1	100	gCg/gTg	0			1			A	A/V	uc001mfp.1	protein_coding	YES	CCDS7782.1			299/969									ovary(2)|skin(2)|central_nervous_system(1)	5	c.(298-300)GCG>GTG			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF114,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 5, subfamily P,				ENSP00000331823		1-Jan	8.28E-05	0.000204				6.00E-05		0.000244	rs765255136,COSM2151931	1-Jan	.		ENST00000329434	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000183303	g.chr11:7818191G>A	14783			MODERATE		-0.905	neutral	getma.org/?cm=msa&ty=f&p=OR5P2_HUMAN&rb=1&re=134&var=A100V	getma.org/pdb.php?prot=OR5P2_HUMAN&from=1&to=134&var=A100V	getma.org/?cm=var&var=hg19,11,7818191,G,A&fts=all	A100V	--	--	1																																			0,1	1		benign(0.005)	p.A100V	NM_153444	NP_703145		tolerated(0.72)	0,1	OR5P2_HUMAN	OR5P2	HGNC	Q8WZ92	OR5P2_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Q6IFE0_HUMAN		1	299	-			UPI00000015AC	100			Helical; Name=3; (Potential).		SNV	OR5P2,missense_variant,p.Ala100Val,ENST00000329434,NM_153444.1;RP11-35J10.5,intron_variant,,ENST00000527565,;RP11-494M8.4,intron_variant,,ENST00000529488,;	uc001mfp.1	c.299C>T	330/1069	2	2			c.299C>T						11	SNP	c.(298-300)GCG>GTG	46	46			ovary(2)|skin(2)|central_nervous_system(1)	5	Broad	olfactory receptor, family 5, subfamily P,			7818191		0.483	ENSG00000183303	10987	g.chr11:7818191G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							210.697159	KEEP	41	38	-1	79	67	41	38	-1	214.289886	79	67	0.359223	1	0	0	0	0	1	0	0	0	--	--		0	A				70	GBM-06-0750-TP	p.A100V	G	AAAGAAAGCCGCTGAACCAAG	NM_153444	NP_703145	7818191	Q8WZ92	OR5P2_HUMAN	0		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	299	-	A	A			Missense_Mutation	100			Helical; Name=3; (Potential).			
OR5P2	0	broad.mit.edu	GRCh37	11	7818191	7818191	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329434.2:c.299C>T	p.Ala100Val	p.A100V	ENST00000329434	NM_153444.1	100	gCg/gTg	0			1			A	A/V	uc001mfp.1	protein_coding	YES	CCDS7782.1			299/969									ovary(2)|skin(2)|central_nervous_system(1)	5	c.(298-300)GCG>GTG			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF114,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 5, subfamily P,				ENSP00000331823		1-Jan	8.28E-05	0.000204				6.00E-05		0.000244	rs765255136,COSM2151931	1-Jan	.		ENST00000329434	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000183303	g.chr11:7818191G>A	14783			MODERATE		-0.905	neutral	getma.org/?cm=msa&ty=f&p=OR5P2_HUMAN&rb=1&re=134&var=A100V	getma.org/pdb.php?prot=OR5P2_HUMAN&from=1&to=134&var=A100V	getma.org/?cm=var&var=hg19,11,7818191,G,A&fts=all	A100V	--	--	1																																			0,1	1		benign(0.005)	p.A100V	NM_153444	NP_703145		tolerated(0.72)	0,1	OR5P2_HUMAN	OR5P2	HGNC	Q8WZ92	OR5P2_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Q6IFE0_HUMAN		1	299	-			UPI00000015AC	100			Helical; Name=3; (Potential).		SNV	OR5P2,missense_variant,p.Ala100Val,ENST00000329434,NM_153444.1;RP11-35J10.5,intron_variant,,ENST00000527565,;RP11-494M8.4,intron_variant,,ENST00000529488,;	uc001mfp.1	c.299C>T	330/1069	2	2			c.299C>T						11	SNP	c.(298-300)GCG>GTG	46	46			ovary(2)|skin(2)|central_nervous_system(1)	5	Broad	olfactory receptor, family 5, subfamily P,			7818191		0.483	ENSG00000183303	10987	g.chr11:7818191G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							317.995654	KEEP	67	63	-1	94	92	67	63	-1	319.29631	94	92	0.427562	1	0	0	0	0	1	0	0	0	--	--		0	A				131	GBM-12-5301-TP	p.A100V	G	AAAGAAAGCCGCTGAACCAAG	NM_153444	NP_703145	7818191	Q8WZ92	OR5P2_HUMAN	0		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	299	-	A	A			Missense_Mutation	100			Helical; Name=3; (Potential).			
OR5P2	120065		GRCh37	11	7818411	7818411	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000329434.2:c.79C>T	p.Arg27Ter	p.R27*	ENST00000329434	NM_153444.1	27	Cga/Tga	0																																																																																																																																																																																																																																												
OR5R1	219479	broad.mit.edu	GRCh37	11	56185215	56185215	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs138983419	byFrequency	TCGA-06-0875-01	TCGA-06-0875-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312253.1:c.494G>A	p.Arg165His	p.R165H	ENST00000312253	NM_001004744.1	165	cGt/cAt	0	T:0.0009	T:0.0015	1	T:0		T	R/H	uc010rji.1	protein_coding	YES	CCDS31530.1			494/975									ovary(2)	2	c.(493-495)CGT>CAT			PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF89,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily R,		T:0	T:0	ENSP00000308595	T:0	1-Jan	0.000107	0.000866		0.000116		4.50E-05			rs138983419,COSM2152023	1-Jan	common_variant		ENST00000312253	Transcript		T:0.0004	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000174942	g.chr11:56185215C>T	14841			MODERATE		1.285	low	getma.org/?cm=msa&ty=f&p=OR5R1_HUMAN&rb=139&re=283&var=R165H	NA	getma.org/?cm=var&var=hg19,11,56185215,C,T&fts=all	R165H	--	--	1																																			0,1	1		benign(0.01)	p.R165H	NM_001004744	NP_001004744	T:0	tolerated(0.49)	0,1	OR5R1_HUMAN	OR5R1	HGNC	Q8NH85	OR5R1_HUMAN					1	494	-	Esophageal squamous(21;0.00448)		UPI000004B225	165			Extracellular (Potential).		SNV	OR5R1,missense_variant,p.Arg165His,ENST00000312253,NM_001004744.1;OR5AL1,downstream_gene_variant,,ENST00000440231,;OR5AL1,downstream_gene_variant,,ENST00000327258,;	uc010rji.1	c.494G>A	494/975	1	1			c.494G>A						11	SNP	c.(493-495)CGT>CAT	7	7			ovary(2)	2	Broad	olfactory receptor, family 5, subfamily R,			56185215		0.438	ENSG00000174942	10989	g.chr11:56185215C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							139.319195	KEEP	38	22	-1	46	50	38	22	-1	142.218841	46	50	0.347518	1	0	0	0	0	1	0	0	0	--	--		0	T				71	GBM-06-0875-TP	p.R165H	C	GTAAGTCAGACGGAAAGTGAT	NM_001004744	NP_001004744	56185215	Q8NH85	OR5R1_HUMAN	0			1	494	-	T	T	Esophageal squamous(21;0.00448)		Missense_Mutation	165			Extracellular (Potential).			
OR5T3	0	broad.mit.edu	GRCh37	11	56020589	56020589	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01	TCGA-32-1982-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303059.3:c.914C>T	p.Ser305Leu	p.S305L	ENST00000303059	NM_001004747.1	305	tCa/tTa	0			1			T	S/L	uc010rjd.1	protein_coding	YES	CCDS31524.1			914/1023										0	c.(913-915)TCA>TTA			Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF87,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 5, subfamily T,				ENSP00000305403		1-Jan									COSM3397833	1-Jan	.		ENST00000303059	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000172489	g.chr11:56020589C>T	15297			MODERATE		3.845	high	getma.org/?cm=msa&ty=f&p=OR5T3_HUMAN&rb=169&re=313&var=S305L	NA	getma.org/?cm=var&var=hg19,11,56020589,C,T&fts=all	S305L	--	--	1																																			1	1		possibly_damaging(0.739)	p.S305L	NM_001004747	NP_001004747		deleterious(0)	1	OR5T3_HUMAN	OR5T3	HGNC	Q8NGG3	OR5T3_HUMAN					1	914	+	Esophageal squamous(21;0.00448)		UPI0000061E96	305			Helical; Name=7; (Potential).		SNV	OR5T3,missense_variant,p.Ser305Leu,ENST00000303059,NM_001004747.1;	uc010rjd.1	c.914C>T	914/1023	2	2			c.914C>T						11	SNP	c.(913-915)TCA>TTA	24	24				0	Broad	olfactory receptor, family 5, subfamily T,			56020589		0.368	ENSG00000172489	10992	g.chr11:56020589C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							60.580226	KEEP	18	12	-1	60	68	18	12	-1	73.754066	60	68	0.193333	1	0	0	0	0	1	0	0	0	--	--		0	T				232	GBM-32-1982-TP	p.S305L	C	ATCATAGTGTCAATATTTTAC	NM_001004747	NP_001004747	56020589	Q8NGG3	OR5T3_HUMAN	0			1	914	+	T	T	Esophageal squamous(21;0.00448)		Missense_Mutation	305			Helical; Name=7; (Potential).			
OR5T3	390154		GRCh37	11	56020021	56020021	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000303059.3:c.346C>T	p.Leu116=	p.L116=	ENST00000303059	NM_001004747.1	116	Ctg/Ttg	0																																																																																																																																																																																																																																												
OR5W2	390148	broad.mit.edu	GRCh37	11	55681774	55681774	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0125-01	TCGA-06-0125-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344514.1:c.285T>C	p.Tyr95=	p.Y95=	ENST00000344514	NM_001001960.1	95	taT/taC	0			1			G	Y	uc010rir.1	protein_coding	YES	CCDS31513.1			285/933									ovary(1)|skin(1)	2	c.(283-285)TAT>TAC			Gene3D:1.20.1070.10,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF58,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily W,				ENSP00000342448		1-Jan									COSM2149393	1-Jan	.		ENST00000344514	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000187612	g.chr11:55681774A>G	15299			LOW								--	--	1																																			1	1			p.Y95Y	NM_001001960	NP_001001960			1	OR5W2_HUMAN	OR5W2	HGNC	Q8NH69	OR5W2_HUMAN					1	285	-			UPI0000061E8D	95			Extracellular (Potential).		SNV	OR5W2,synonymous_variant,p.=,ENST00000344514,NM_001001960.1;	uc010rir.1	c.285T>C	285/933	3	3			c.285T>C						11	SNP	c.(283-285)TAT>TAC	9	9			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 5, subfamily W,			55681774		0.463	ENSG00000187612	10994	g.chr11:55681774A>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	Melanoma(48;171 1190 15239 43886 49348)			Melanoma(48;171 1190 15239 43886 49348)			220.118308	KEEP	41	33	-1	28	50	41	33	-1	220.119951	28	50	0.496296	1	0	0	0	0	0	0	1	0	--	--		0	G				12	GBM-06-0125-TP	p.Y95Y	A	GAGCACAGCCATAGAAGGGTA	NM_001001960	NP_001001960	55681774	Q8NH69	OR5W2_HUMAN	0			1	285	-	G	G			Silent	95			Extracellular (Potential).			
OR5W2	390148	broad.mit.edu	GRCh37	11	55681471	55681471	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0877-01	TCGA-06-0877-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344514.1:c.588G>C	p.Glu196Asp	p.E196D	ENST00000344514	NM_001001960.1	196	gaG/gaC	0			1			G	E/D	uc010rir.1	protein_coding	YES	CCDS31513.1			588/933									ovary(1)|skin(1)	2	c.(586-588)GAG>GAC			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF58,Superfamily_domains:SSF81321	olfactory receptor, family 5, subfamily W,				ENSP00000342448		1-Jan	8.24E-06		8.66E-05						rs770746761,COSM2152134	1-Jan	.		ENST00000344514	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000187612	g.chr11:55681471C>G	15299			MODERATE		2.315	medium	getma.org/?cm=msa&ty=f&p=OR5W2_HUMAN&rb=139&re=283&var=E196D	NA	getma.org/?cm=var&var=hg19,11,55681471,C,G&fts=all	E196D	--	--	1																																			0,1	1		benign(0.262)	p.E196D	NM_001001960	NP_001001960		deleterious(0.03)	0,1	OR5W2_HUMAN	OR5W2	HGNC	Q8NH69	OR5W2_HUMAN					1	588	-			UPI0000061E8D	196			Extracellular (Potential).		SNV	OR5W2,missense_variant,p.Glu196Asp,ENST00000344514,NM_001001960.1;	uc010rir.1	c.588G>C	588/933	3	3			c.588G>C						11	SNP	c.(586-588)GAG>GAC	56	56			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 5, subfamily W,			55681471		0.383	ENSG00000187612	10994	g.chr11:55681471C>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	Melanoma(48;171 1190 15239 43886 49348)			Melanoma(48;171 1190 15239 43886 49348)			157.040162	KEEP	19	27	-1	43	46	19	27	-1	159.754853	43	46	0.346154	1	0	0	0	0	1	0	0	0	--	--		0	G				73	GBM-06-0877-TP	p.E196D	C	ATAACACTAACTCATTGACCT	NM_001001960	NP_001001960	55681471	Q8NH69	OR5W2_HUMAN	0			1	588	-	G	G			Missense_Mutation	196			Extracellular (Potential).			
OR5W2	0	broad.mit.edu	GRCh37	11	55681751	55681751	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-2509-01	TCGA-28-2509-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344514.1:c.308T>C	p.Val103Ala	p.V103A	ENST00000344514	NM_001001960.1	103	gTc/gCc	0			1			G	V/A	uc010rir.1	protein_coding	YES	CCDS31513.1			308/933									ovary(1)|skin(1)	2	c.(307-309)GTC>GCC			Gene3D:1.20.1070.10,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF58,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 5, subfamily W,				ENSP00000342448		1-Jan									COSM3397812	1-Jan	.		ENST00000344514	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000187612	g.chr11:55681751A>G	15299			MODERATE		0.615	neutral	getma.org/?cm=msa&ty=f&p=OR5W2_HUMAN&rb=1&re=138&var=V103A	getma.org/pdb.php?prot=OR5W2_HUMAN&from=1&to=138&var=V103A	getma.org/?cm=var&var=hg19,11,55681751,A,G&fts=all	V103A	--	--	1																																			1	1		benign(0.017)	p.V103A	NM_001001960	NP_001001960		tolerated(0.05)	1	OR5W2_HUMAN	OR5W2	HGNC	Q8NH69	OR5W2_HUMAN					1	308	-			UPI0000061E8D	103			Helical; Name=3; (Potential).		SNV	OR5W2,missense_variant,p.Val103Ala,ENST00000344514,NM_001001960.1;	uc010rir.1	c.308T>C	308/933	3	3			c.308T>C						11	SNP	c.(307-309)GTC>GCC	9	9			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 5, subfamily W,			55681751		0.468	ENSG00000187612	10994	g.chr11:55681751A>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	Melanoma(48;171 1190 15239 43886 49348)			Melanoma(48;171 1190 15239 43886 49348)			165.819006	KEEP	30	27	-1	37	47	30	27	-1	166.616271	37	47	0.413223	1	0	0	0	0	1	0	0	0	--	--		0	G				211	GBM-28-2509-TP	p.V103A	A	GATACAGAAGACCAAGAATTG	NM_001001960	NP_001001960	55681751	Q8NH69	OR5W2_HUMAN	0			1	308	-	G	G			Missense_Mutation	103			Helical; Name=3; (Potential).			
OR5W2	390148		GRCh37	11	55681607	55681607	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000344514.1:c.452T>C	p.Val151Ala	p.V151A	ENST00000344514	NM_001001960.1	151	gTg/gCg	0																																																																																																																																																																																																																																												
OR5W2	390148		GRCh37	11	55681277	55681277	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000344514.1:c.782G>A	p.Arg261Gln	p.R261Q	ENST00000344514	NM_001001960.1	261	cGg/cAg	0																																																																																																																																																																																																																																												
OR6B1	0	broad.mit.edu	GRCh37	7	143701705	143701705	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-27-1834-01	TCGA-27-1834-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408922.2:c.616A>G	p.Ile206Val	p.I206V	ENST00000408922	NM_001005281.1	206	Atc/Gtc	0			1			G	I/V	uc003wdt.1	protein_coding	YES	CCDS43667.1			616/936									ovary(1)	1	c.(616-618)ATC>GTC			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF174,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 6, subfamily B,				ENSP00000386151		1-Jan									COSM3411737	1-Jan	.		ENST00000408922	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000221813	g.chr7:143701705A>G	8354			MODERATE		-0.12	neutral	getma.org/?cm=msa&ty=f&p=OR6B1_HUMAN&rb=139&re=281&var=I206V	NA	getma.org/?cm=var&var=hg19,7,143701705,A,G&fts=all	I206V	--	--	1																																			1	1		benign(0.035)	p.I206V	NM_001005281	NP_001005281		tolerated(0.45)	1	OR6B1_HUMAN	OR6B1	HGNC	O95007	OR6B1_HUMAN					1	616	+	Melanoma(164;0.0783)		UPI0000041B18	206			Helical; Name=5; (Potential).		SNV	OR6B1,missense_variant,p.Ile206Val,ENST00000408922,NM_001005281.1;	uc003wdt.1	c.616A>G	684/1047	3	3			c.616A>G						7	SNP	c.(616-618)ATC>GTC	13	13			ovary(1)	1	Broad	olfactory receptor, family 6, subfamily B,			143701705		0.458	ENSG00000221813	10996	g.chr7:143701705A>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							251.748496	KEEP	54	49	-1	124	138	54	49	-1	265.604577	124	138	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	G				193	GBM-27-1834-TP	p.I206V	A	GGCACTGGTCATCTTCCTATT	NM_001005281	NP_001005281	143701705	O95007	OR6B1_HUMAN	0			1	616	+	G	G	Melanoma(164;0.0783)		Missense_Mutation	206			Helical; Name=5; (Potential).			
OR6B1	0	broad.mit.edu	GRCh37	7	143701298	143701298	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-28-5216-01	TCGA-28-5216-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408922.2:c.209A>T	p.Glu70Val	p.E70V	ENST00000408922	NM_001005281.1	70	gAg/gTg	0			1			T	E/V	uc003wdt.1	protein_coding	YES	CCDS43667.1			209/936									ovary(1)	1	c.(208-210)GAG>GTG			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF174,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 6, subfamily B,				ENSP00000386151		1-Jan									COSM3411736	1-Jan	.		ENST00000408922	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000221813	g.chr7:143701298A>T	8354			MODERATE		3.72	high	getma.org/?cm=msa&ty=f&p=OR6B1_HUMAN&rb=1&re=138&var=E70V	getma.org/pdb.php?prot=OR6B1_HUMAN&from=1&to=138&var=E70V	getma.org/?cm=var&var=hg19,7,143701298,A,T&fts=all	E70V	--	--	1																																			1	1		probably_damaging(0.999)	p.E70V	NM_001005281	NP_001005281		deleterious(0)	1	OR6B1_HUMAN	OR6B1	HGNC	O95007	OR6B1_HUMAN					1	209	+	Melanoma(164;0.0783)		UPI0000041B18	70			Helical; Name=2; (Potential).		SNV	OR6B1,missense_variant,p.Glu70Val,ENST00000408922,NM_001005281.1;	uc003wdt.1	c.209A>T	277/1047	2	2			c.209A>T						7	SNP	c.(208-210)GAG>GTG	36	36			ovary(1)	1	Broad	olfactory receptor, family 6, subfamily B,			143701298		0.458	ENSG00000221813	10996	g.chr7:143701298A>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							279.573616	KEEP	62	47	-1	57	60	62	47	-1	279.746501	57	60	0.469484	1	0	0	0	0	1	0	0	0	--	--		0	T				223	GBM-28-5216-TP	p.E70V	A	TCCTTCTTGGAGACCTGGTAC	NM_001005281	NP_001005281	143701298	O95007	OR6B1_HUMAN	0			1	209	+	T	T	Melanoma(164;0.0783)		Missense_Mutation	70			Helical; Name=2; (Potential).			
OR6B3	0	broad.mit.edu	GRCh37	2	240985270	240985270	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319423.4:c.220G>A	p.Val74Met	p.V74M	ENST00000319423	NM_173351.1	74	Gtg/Atg	0		T:0	1	T:0		T	V/M	uc010zoe.1	protein_coding	YES	CCDS42837.1			220/996										0	c.(220-222)GTG>ATG			Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF106,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 6, subfamily B,		T:0.001		ENSP00000322435	T:0	1-Jan	5.78E-05			0.000232		3.00E-05		0.000182	rs201073756,COSM2156115	1-Jan	.		ENST00000319423	Transcript		T:0.0002	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000178586	g.chr2:240985270C>T	15042			MODERATE		2.345	medium	getma.org/?cm=msa&ty=f&p=OR6B3_HUMAN&rb=1&re=138&var=V74M	NA	getma.org/?cm=var&var=hg19,2,240985270,C,T&fts=all	V74M	--	--	1																																		PRR21_uc010zod.1_5'Flank	0,1	1		benign(0.068)	p.V74M	NM_173351	NP_775486	T:0	deleterious(0.01)	0,1	OR6B3_HUMAN	OR6B3	HGNC	Q8NGW1	OR6B3_HUMAN		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)	I0EZ58_HUMAN		1	220	-		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	UPI0000061EBE	74			Helical; Name=2; (Potential).		SNV	OR6B3,missense_variant,p.Val74Met,ENST00000319423,NM_173351.1;PRR21,upstream_gene_variant,,ENST00000408934,NM_001080835.1;PRR21,upstream_gene_variant,,ENST00000486799,;	uc010zoe.1	c.220G>A	220/996	1	1			c.220G>A						2	SNP	c.(220-222)GTG>ATG	9	9				0	Broad	olfactory receptor, family 6, subfamily B,			240985270		0.557	ENSG00000178586	10998	g.chr2:240985270C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							83.487178	KEEP	21	20	-1	51	76	21	20	-1	91.565571	51	76	0.246377	1	0	0	0	0	1	0	0	0	--	--		0	T			PRR21_uc010zod.1_5'Flank	160	GBM-19-1790-TP	p.V74M	C	ATGTCAGACACGTACCAGATC	NM_173351	NP_775486	240985270	Q8NGW1	OR6B3_HUMAN	0		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)	1	220	-	T	T		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	Missense_Mutation	74			Helical; Name=2; (Potential).			
OR6C1	0	broad.mit.edu	GRCh37	12	55714593	55714593	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-1597-01	TCGA-12-1597-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379668.2:c.210G>A	p.Ser70=	p.S70=	ENST00000379668	NM_001005182.1	70	tcG/tcA	0	A:0.0002		1			A	S	uc010spi.1	protein_coding	YES	CCDS31818.1			210/939									large_intestine(1)|ovary(1)	2	c.(208-210)TCG>TCA			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26454,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 6, subfamily C,			A:0	ENSP00000368990		1-Jan	4.12E-05	9.70E-05				6.01E-05			rs375702387,COSM3398868	1-Jan	.		ENST00000379668	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000205330	g.chr12:55714593G>A	8355			LOW								--	--	1																																			0,1	1			p.S70S	NM_001005182	NP_001005182			0,1	OR6C1_HUMAN	OR6C1	HGNC	Q96RD1	OR6C1_HUMAN					1	210	+			UPI000016150F	70			Helical; Name=2; (Potential).		SNV	OR6C1,synonymous_variant,p.=,ENST00000379668,NM_001005182.1;	uc010spi.1	c.210G>A	248/1063	2	2			c.210G>A						12	SNP	c.(208-210)TCG>TCA	25	25			large_intestine(1)|ovary(1)	2	Broad	olfactory receptor, family 6, subfamily C,			55714593		0.383	ENSG00000205330	10999	g.chr12:55714593G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							150.523635	KEEP	21	30	-1	40	40	21	30	-1	151.617121	40	40	0.4	1	0	0	0	0	0	0	1	0	--	--		0	A				124	GBM-12-1597-TP	p.S70S	G	TAGAAATTTCGTTCACAACCG	NM_001005182	NP_001005182	55714593	Q96RD1	OR6C1_HUMAN	0			1	210	+	A	A			Silent	70			Helical; Name=2; (Potential).			
OR6C1	390321		GRCh37	12	55714592	55714592	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000379668.2:c.209C>T	p.Ser70Leu	p.S70L	ENST00000379668	NM_001005182.1	70	tCg/tTg	0																																																																																																																																																																																																																																												
OR6C2	0	broad.mit.edu	GRCh37	12	55846834	55846834	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-4209-01	TCGA-32-4209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322678.1:c.837C>T	p.Val279=	p.V279=	ENST00000322678	NM_054105.1	279	gtC/gtT	0			1			T	V	uc001sgz.1	protein_coding	YES	CCDS31824.1			837/939									skin(2)	2	c.(835-837)GTC>GTT			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26454:SF48,hmmpanther:PTHR26454,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 6, subfamily C,				ENSP00000323606		1-Jan	1.65E-05			0.000116		1.50E-05			rs748191067,COSM3398872	1-Jan	.		ENST00000322678	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000179695	g.chr12:55846834C>T	15436			LOW								--	--	1																																			0,1	1			p.V279V	NM_054105	NP_473446			0,1	OR6C2_HUMAN	OR6C2	HGNC	Q9NZP2	OR6C2_HUMAN					1	837	+			UPI0000140EC9	279			Helical; Name=7; (Potential).		SNV	OR6C2,synonymous_variant,p.=,ENST00000322678,NM_054105.1;RP11-110A12.2,intron_variant,,ENST00000556750,;RP11-110A12.2,intron_variant,,ENST00000555146,;RP11-110A12.2,intron_variant,,ENST00000554049,;RP11-110A12.2,intron_variant,,ENST00000555138,;	uc001sgz.1	c.837C>T	837/939	2	2			c.837C>T						12	SNP	c.(835-837)GTC>GTT	18	18			skin(2)	2	Broad	olfactory receptor, family 6, subfamily C,			55846834		0.408	ENSG00000179695	11000	g.chr12:55846834C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							179.901707	KEEP	37	35	-1	70	92	37	35	-1	186.548414	70	92	0.311005	1	0	0	0	0	0	0	1	0	--	--		0	T				244	GBM-32-4209-TP	p.V279V	C	CTACTTCTGTCGCACCCTTGT	NM_054105	NP_473446	55846834	Q9NZP2	OR6C2_HUMAN	0			1	837	+	T	T			Silent	279			Helical; Name=7; (Potential).			
OR6C4	0	broad.mit.edu	GRCh37	12	55945591	55945591	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-41-3392-01	TCGA-41-3392-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394256.2:c.581A>G	p.Glu194Gly	p.E194G	ENST00000394256	NM_001005494.1	194	gAa/gGa	0			1			G	E/G	uc010spp.1	protein_coding	YES	CCDS31827.1			581/930										0	c.(580-582)GAA>GGA			Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26454:SF9,hmmpanther:PTHR26454,PROSITE_profiles:PS50262	olfactory receptor, family 6, subfamily C,				ENSP00000377799		1-Jan									COSM3398873	1-Jan	.		ENST00000394256	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000179626	g.chr12:55945591A>G	19632			MODERATE		2.6	medium	getma.org/?cm=msa&ty=f&p=OR6C4_HUMAN&rb=137&re=281&var=E194G	NA	getma.org/?cm=var&var=hg19,12,55945591,A,G&fts=all	E194G	--	--	1																																			1	1		possibly_damaging(0.657)	p.E194G	NM_001005494	NP_001005494		deleterious_low_confidence(0)	1	OR6C4_HUMAN	OR6C4	HGNC	Q8NGE1	OR6C4_HUMAN					1	581	+			UPI000004A282	194			Extracellular (Potential).		SNV	OR6C4,missense_variant,p.Glu194Gly,ENST00000394256,NM_001005494.1;AC009779.1,downstream_gene_variant,,ENST00000584743,;RP11-110A12.2,intron_variant,,ENST00000556750,;RP11-110A12.2,intron_variant,,ENST00000555138,;	uc010spp.1	c.581A>G	609/1046	3	3			c.581A>G						12	SNP	c.(580-582)GAA>GGA	1	1				0	Broad	olfactory receptor, family 6, subfamily C,			55945591		0.468	ENSG00000179626	11002	g.chr12:55945591A>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							176.195294	KEEP	32	28	-1	64	48	32	28	-1	178.157102	64	48	0.372263	1	0	0	0	0	1	0	0	0	--	--		0	G				254	GBM-41-3392-TP	p.E194G	A	AGCCTCTTAGAACTGATGGTC	NM_001005494	NP_001005494	55945591	Q8NGE1	OR6C4_HUMAN	0			1	581	+	G	G			Missense_Mutation	194			Extracellular (Potential).			
OR6C6	0	broad.mit.edu	GRCh37	12	55688832	55688832	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1823-01	TCGA-14-1823-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358433.2:c.185G>A	p.Arg62His	p.R62H	ENST00000358433	NM_001005493.1	62	cGt/cAt	0			1			T	R/H	uc010sph.1	protein_coding	YES	CCDS31817.1			185/945									large_intestine(1)|skin(1)	2	c.(184-186)CGT>CAT			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF40,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 6, subfamily C,				ENSP00000351211		1-Jan	2.47E-05					3.00E-05		6.06E-05	rs757658611,COSM3398866	1-Jan	.		ENST00000358433	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000188324	g.chr12:55688832C>T	31293			MODERATE		2.685	medium	getma.org/?cm=msa&ty=f&p=OR6C6_HUMAN&rb=1&re=136&var=R62H	getma.org/pdb.php?prot=OR6C6_HUMAN&from=1&to=136&var=R62H	getma.org/?cm=var&var=hg19,12,55688832,C,T&fts=all	R62H	--	--	1																																			0,1	1		benign(0.046)	p.R62H	NM_001005493	NP_001005493		deleterious_low_confidence(0.02)	0,1	OR6C6_HUMAN	OR6C6	HGNC	A6NF89	OR6C6_HUMAN					1	185	-			UPI000015FCD4	62			Cytoplasmic (Potential).		SNV	OR6C6,missense_variant,p.Arg62His,ENST00000358433,NM_001005493.1;OR6C72P,intron_variant,,ENST00000379669,;	uc010sph.1	c.185G>A	185/945	2	2			c.185G>A						12	SNP	c.(184-186)CGT>CAT	22	22			large_intestine(1)|skin(1)	2	Broad	olfactory receptor, family 6, subfamily C,			55688832		0.388	ENSG00000188324	11003	g.chr12:55688832C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							52.958152	KEEP	19	8	-1	66	40	19	8	-1	63.597302	66	40	0.195122	1	0	0	0	0	1	0	0	0	--	--		0	T				147	GBM-14-1823-TP	p.R62H	C	GGAGAAATTACGGAGAAAGAA	NM_001005493	NP_001005493	55688832	A6NF89	OR6C6_HUMAN	0			1	185	-	T	T			Missense_Mutation	62			Cytoplasmic (Potential).			
OR6C6	0	broad.mit.edu	GRCh37	12	55688288	55688288	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-27-1838-01	TCGA-27-1838-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358433.2:c.729G>C	p.Met243Ile	p.M243I	ENST00000358433	NM_001005493.1	243	atG/atC	0			1			G	M/I	uc010sph.1	protein_coding	YES	CCDS31817.1			729/945									large_intestine(1)|skin(1)	2	c.(727-729)ATG>ATC			Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF40,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 6, subfamily C,				ENSP00000351211		1-Jan									COSM3398865	1-Jan	.		ENST00000358433	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000188324	g.chr12:55688288C>G	31293			MODERATE		0.285	neutral	getma.org/?cm=msa&ty=f&p=OR6C6_HUMAN&rb=137&re=281&var=M243I	NA	getma.org/?cm=var&var=hg19,12,55688288,C,G&fts=all	M243I	--	--	1																																			1	1		benign(0.042)	p.M243I	NM_001005493	NP_001005493		deleterious_low_confidence(0.05)	1	OR6C6_HUMAN	OR6C6	HGNC	A6NF89	OR6C6_HUMAN					1	729	-			UPI000015FCD4	243			Helical; Name=6; (Potential).		SNV	OR6C6,missense_variant,p.Met243Ile,ENST00000358433,NM_001005493.1;OR6C72P,intron_variant,,ENST00000379669,;	uc010sph.1	c.729G>C	729/945	3	3			c.729G>C						12	SNP	c.(727-729)ATG>ATC	13	13			large_intestine(1)|skin(1)	2	Broad	olfactory receptor, family 6, subfamily C,			55688288		0.368	ENSG00000188324	11003	g.chr12:55688288C>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							182.64813	KEEP	38	21	-1	70	77	38	21	-1	190.043167	70	77	0.291005	1	0	0	0	0	1	0	0	0	--	--		0	G				197	GBM-27-1838-TP	p.M243I	C	AGACAACAATCATGTGGGAAG	NM_001005493	NP_001005493	55688288	A6NF89	OR6C6_HUMAN	0			1	729	-	G	G			Missense_Mutation	243			Helical; Name=6; (Potential).			
OR6C6	0	broad.mit.edu	GRCh37	12	55688853	55688853	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs77411445		TCGA-76-4931-01	TCGA-76-4931-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358433.2:c.164C>T	p.Thr55Met	p.T55M	ENST00000358433	NM_001005493.1	55	aCg/aTg	0	A:0	A:0.0008	1	A:0		A	T/M	uc010sph.1	protein_coding	YES	CCDS31817.1			164/945									large_intestine(1)|skin(1)	2	c.(163-165)ACG>ATG			Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF40,Superfamily_domains:SSF81321	olfactory receptor, family 6, subfamily C,		A:0	A:0.0001	ENSP00000351211	A:0	1-Jan	4.94E-05	9.65E-05	8.71E-05			4.50E-05		6.06E-05	rs77411445,COSM3398867	1-Jan	.		ENST00000358433	Transcript		A:0.0004	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000188324	g.chr12:55688853G>A	31293			MODERATE		2.72	medium	getma.org/?cm=msa&ty=f&p=OR6C6_HUMAN&rb=1&re=136&var=T55M	getma.org/pdb.php?prot=OR6C6_HUMAN&from=1&to=136&var=T55M	getma.org/?cm=var&var=hg19,12,55688853,G,A&fts=all	T55M	--	--	1																																			0,1	1		benign(0.149)	p.T55M	NM_001005493	NP_001005493	A:0.001	deleterious_low_confidence(0.01)	0,1	OR6C6_HUMAN	OR6C6	HGNC	A6NF89	OR6C6_HUMAN					1	164	-			UPI000015FCD4	55			Cytoplasmic (Potential).		SNV	OR6C6,missense_variant,p.Thr55Met,ENST00000358433,NM_001005493.1;OR6C72P,intron_variant,,ENST00000379669,;	uc010sph.1	c.164C>T	164/945	2	2			c.164C>T						12	SNP	c.(163-165)ACG>ATG	35	35			large_intestine(1)|skin(1)	2	Broad	olfactory receptor, family 6, subfamily C,			55688853		0.398	ENSG00000188324	11003	g.chr12:55688853G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							174.843325	KEEP	30	31	-1	33	37	30	31	-1	174.993525	33	37	0.461538	1	0	0	0	0	1	0	0	0	--	--		0	A				270	GBM-76-4931-TP	p.T55M	G	ATACATTGGCGTCTTGAGCCG	NM_001005493	NP_001005493	55688853	A6NF89	OR6C6_HUMAN	0			1	164	-	A	A			Missense_Mutation	55			Cytoplasmic (Potential).			
OR6C70	390327	broad.mit.edu	GRCh37	12	55863703	55863703	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0876-01	TCGA-06-0876-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327335.4:c.220G>T	p.Ala74Ser	p.A74S	ENST00000327335	NM_001005499.1	74	Gct/Tct	0			1			A	A/S	uc010spn.1	protein_coding	YES	CCDS31825.1			220/939									skin(1)	1	c.(220-222)GCT>TCT			Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26454:SF17,hmmpanther:PTHR26454,PROSITE_profiles:PS50262	olfactory receptor, family 6, subfamily C,				ENSP00000329153		1-Jan	8.24E-06							6.07E-05	rs749540632,COSM2152063	1-Jan	.		ENST00000327335	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000184954	g.chr12:55863703C>A	31299			MODERATE		0.25	neutral	getma.org/?cm=msa&ty=f&p=O6C70_HUMAN&rb=1&re=136&var=A74S	getma.org/pdb.php?prot=O6C70_HUMAN&from=1&to=136&var=A74S	getma.org/?cm=var&var=hg19,12,55863703,C,A&fts=all	A74S	--	--	1																																			0,1	1		benign(0.004)	p.A74S	NM_001005499	NP_001005499		deleterious_low_confidence(0.03)	0,1	O6C70_HUMAN	OR6C70	HGNC	A6NIJ9	O6C70_HUMAN					1	220	-			UPI000044D40E	74			Helical; Name=2; (Potential).		SNV	OR6C70,missense_variant,p.Ala74Ser,ENST00000327335,NM_001005499.1;RP11-110A12.2,intron_variant,,ENST00000556750,;RP11-110A12.2,intron_variant,,ENST00000555146,;RP11-110A12.2,intron_variant,,ENST00000554049,;RP11-110A12.2,intron_variant,,ENST00000555138,;	uc010spn.1	c.220G>T	220/939	2	2			c.220G>T						12	SNP	c.(220-222)GCT>TCT	30	30			skin(1)	1	Broad	olfactory receptor, family 6, subfamily C,			55863703		0.398	ENSG00000184954	11006	g.chr12:55863703C>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							108.681872	KEEP	20	16	0.444444444	34	20	20	16	0.444444444	109.317781	34	20	0.409091	1	0	0	0	0	1	0	0	0	--	--		0	A				72	GBM-06-0876-TP	p.A74S	C	GGAATGCAAGCAGTTGTGAAT	NM_001005499	NP_001005499	55863703	A6NIJ9	O6C70_HUMAN	0			1	220	-	A	A			Missense_Mutation	74			Helical; Name=2; (Potential).			
OR6C74	254783	broad.mit.edu	GRCh37	12	55641790	55641790	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0154-01	TCGA-06-0154-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343870.4:c.719C>T	p.Ser240Phe	p.S240F	ENST00000343870	NM_001005490.1	240	tCt/tTt	0			1			T	S/F	uc010spg.1	protein_coding	YES	CCDS31816.1			719/939									central_nervous_system(1)	1	c.(718-720)TCT>TTT			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26454,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	olfactory receptor, family 6, subfamily C,				ENSP00000342836		1-Jan									COSM2149940	1-Jan	.		ENST00000343870	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000197706	g.chr12:55641790C>T	31303			MODERATE		3.01	medium	getma.org/?cm=msa&ty=f&p=O6C74_HUMAN&rb=137&re=281&var=S240F	NA	getma.org/?cm=var&var=hg19,12,55641790,C,T&fts=all	S240F	--	--	1																																			1	1		probably_damaging(0.999)	p.S240F	NM_001005490	NP_001005490		deleterious_low_confidence(0.01)	1	O6C74_HUMAN	OR6C74	HGNC	A6NCV1	O6C74_HUMAN					1	719	+			UPI000016150B	240			Helical; Name=6; (Potential).		SNV	OR6C74,missense_variant,p.Ser240Phe,ENST00000343870,NM_001005490.1;	uc010spg.1	c.719C>T	809/1105	2	2			c.719C>T						12	SNP	c.(718-720)TCT>TTT	45	45			central_nervous_system(1)	1	Broad	olfactory receptor, family 6, subfamily C,			55641790		0.373	ENSG00000197706	11007	g.chr12:55641790C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							130.71381	KEEP	34	41	-1	82	66	34	41	-1	135.930843	82	66	0.302013	1	0	0	0	0	1	0	0	0	--	--		0	T				26	GBM-06-0154-TP	p.S240F	C	TCTACATGTTCTTCCCACATG	NM_001005490	NP_001005490	55641790	A6NCV1	O6C74_HUMAN	0			1	719	+	T	T			Missense_Mutation	240			Helical; Name=6; (Potential).			
OR6C75	390323	broad.mit.edu	GRCh37	12	55759176	55759176	+	synonymous_variant	Silent	SNP	G	G	T	rs113253007		TCGA-06-5856-01	TCGA-06-5856-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343399.3:c.282G>T	p.Gly94=	p.G94=	ENST00000343399	NM_001005497.1	94	ggG/ggT	0			1			T	G	uc010spk.1	protein_coding	YES	CCDS31820.1			282/939									ovary(2)|large_intestine(1)	3	c.(280-282)GGG>GGT			Gene3D:1.20.1070.10,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF52,Superfamily_domains:SSF81321	olfactory receptor, family 6, subfamily C,				ENSP00000368987		1-Jan									COSM3747924	1-Jan	.		ENST00000343399	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000187857	g.chr12:55759176G>T	31304			LOW								--	--	1																																			1	1			p.G94G	NM_001005497	NP_001005497			1	O6C75_HUMAN	OR6C75	HGNC	A6NL08	O6C75_HUMAN					1	282	+			UPI000023786C	94			Extracellular (Potential).		SNV	OR6C75,synonymous_variant,p.=,ENST00000343399,NM_001005497.1;	uc010spk.1	c.282G>T	282/939	2	2			c.282G>T						12	SNP	c.(280-282)GGG>GGT	32	32			ovary(2)|large_intestine(1)	3	Broad	olfactory receptor, family 6, subfamily C,			55759176		0.448	ENSG00000187857	11008	g.chr12:55759176G>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							19.596423	KEEP	8	9	0.470588235	66	71	8	9	0.470588235	39.639015	66	71	0.115942	1	0	0	0	0	0	0	1	0	--	--		0	T				101	GBM-06-5856-TP	p.G94G	G	CTTATAATGGGTGTGTGGCTC	NM_001005497	NP_001005497	55759176	A6NL08	O6C75_HUMAN	0			1	282	+	T	T			Silent	94			Extracellular (Potential).			
OR6C75	0	broad.mit.edu	GRCh37	12	55759400	55759400	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-16-0846-01	TCGA-16-0846-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343399.3:c.506C>G	p.Ser169Cys	p.S169C	ENST00000343399	NM_001005497.1	169	tCc/tGc	0			1			G	S/C	uc010spk.1	protein_coding	YES	CCDS31820.1			506/939									ovary(2)|large_intestine(1)	3	c.(505-507)TCC>TGC			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF52,Superfamily_domains:SSF81321	olfactory receptor, family 6, subfamily C,				ENSP00000368987		1-Jan									COSM3398871	1-Jan	.		ENST00000343399	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000187857	g.chr12:55759400C>G	31304			MODERATE		3.215	medium	getma.org/?cm=msa&ty=f&p=O6C75_HUMAN&rb=137&re=281&var=S169C	NA	getma.org/?cm=var&var=hg19,12,55759400,C,G&fts=all	S169C	--	--	1																																			1	1		probably_damaging(0.999)	p.S169C	NM_001005497	NP_001005497		deleterious_low_confidence(0)	1	O6C75_HUMAN	OR6C75	HGNC	A6NL08	O6C75_HUMAN					1	506	+			UPI000023786C	169			Extracellular (Potential).		SNV	OR6C75,missense_variant,p.Ser169Cys,ENST00000343399,NM_001005497.1;	uc010spk.1	c.506C>G	506/939	3	3			c.506C>G						12	SNP	c.(505-507)TCC>TGC	62	62			ovary(2)|large_intestine(1)	3	Broad	olfactory receptor, family 6, subfamily C,			55759400		0.433	ENSG00000187857	11008	g.chr12:55759400C>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							137.899219	KEEP	31	14	-1	72	35	31	14	-1	142.754988	72	35	0.302158	1	0	0	0	0	1	0	0	0	--	--		0	G				155	GBM-16-0846-TP	p.S169C	C	TTCTGTGCCTCCAATGTAATT	NM_001005497	NP_001005497	55759400	A6NL08	O6C75_HUMAN	0			1	506	+	G	G			Missense_Mutation	169			Extracellular (Potential).			
OR6C75	0	broad.mit.edu	GRCh37	12	55758950	55758950	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-6450-01	TCGA-28-6450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343399.3:c.56C>T	p.Pro19Leu	p.P19L	ENST00000343399	NM_001005497.1	19	cCa/cTa	0			1			T	P/L	uc010spk.1	protein_coding	YES	CCDS31820.1			56/939									ovary(2)|large_intestine(1)	3	c.(55-57)CCA>CTA			Gene3D:1.20.1070.10,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF52,Superfamily_domains:SSF81321	olfactory receptor, family 6, subfamily C,				ENSP00000368987		1-Jan									COSM3398870	1-Jan	.		ENST00000343399	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000187857	g.chr12:55758950C>T	31304			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=O6C75_HUMAN&rb=1&re=136&var=P19L	NA	getma.org/?cm=var&var=hg19,12,55758950,C,T&fts=all	P19L	--	--	1																																			1	1		benign(0.002)	p.P19L	NM_001005497	NP_001005497		deleterious_low_confidence(0.01)	1	O6C75_HUMAN	OR6C75	HGNC	A6NL08	O6C75_HUMAN					1	56	+			UPI000023786C	19			Extracellular (Potential).		SNV	OR6C75,missense_variant,p.Pro19Leu,ENST00000343399,NM_001005497.1;	uc010spk.1	c.56C>T	56/939	2	2			c.56C>T						12	SNP	c.(55-57)CCA>CTA	30	30			ovary(2)|large_intestine(1)	3	Broad	olfactory receptor, family 6, subfamily C,			55758950		0.363	ENSG00000187857	11008	g.chr12:55758950C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							136.658335	KEEP	28	25	-1	49	79	28	25	-1	142.752031	49	79	0.29375	1	0	0	0	0	1	0	0	0	--	--		0	T				227	GBM-28-6450-TP	p.P19L	C	ACAAGTGACCCACAGTGGCAG	NM_001005497	NP_001005497	55758950	A6NL08	O6C75_HUMAN	0			1	56	+	T	T			Missense_Mutation	19			Extracellular (Potential).			
OR6C75	0	broad.mit.edu	GRCh37	12	55758922	55758922	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-76-6191-01	TCGA-76-6191-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343399.3:c.30delT	p.Phe10LeufsTer6	p.F10Lfs*6	ENST00000343399	NM_001005497.1	10	Ttt/tt	0			1			-	F/X	uc010spk.1	protein_coding	YES	CCDS31820.1			28/939									ovary(2)|large_intestine(1)	3	c.(28-30)TTTfs			Gene3D:1.20.1070.10,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF52,Superfamily_domains:SSF81321	olfactory receptor, family 6, subfamily C,				ENSP00000368987		1-Jan										1-Jan	.		ENST00000343399	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000187857	g.chr12:55758922delT	31304	2		HIGH								--	--	1																																				1			p.F10fs	NM_001005497	NP_001005497				O6C75_HUMAN	OR6C75	HGNC	A6NL08	O6C75_HUMAN					1	28	+			UPI000023786C	10			Extracellular (Potential).		deletion	OR6C75,frameshift_variant,p.Phe10LeufsTer6,ENST00000343399,NM_001005497.1;	uc010spk.1	c.28delT	28/939	5	5			c.28delT						12	DEL	c.(28-30)TTTfs	25	25			ovary(2)|large_intestine(1)	3	Broad	olfactory receptor, family 6, subfamily C,			55758922		0.353	ENSG00000187857	11008	g.chr12:55758922delT	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity																				0.37	1	1	0	1	0	0	0	0	0	--	--		0	-				274	GBM-76-6191-TP	p.F10fs	T	AGTAACAGACTTTATTCTTCT	NM_001005497	NP_001005497	55758922	A6NL08	O6C75_HUMAN	0			1	28	+	-	-			Frame_Shift_Del	10			Extracellular (Potential).			
OR6F1	343169		GRCh37	1	247875393	247875393	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000302084.2:c.665T>G	p.Ile222Ser	p.I222S	ENST00000302084	NM_001005286.1	222	aTc/aGc	0																																																																																																																																																																																																																																												
OR6K2	0	broad.mit.edu	GRCh37	1	158669760	158669760	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01	TCGA-12-3649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359610.2:c.683G>A	p.Arg228His	p.R228H	ENST00000359610	NM_001005279.1	228	cGt/cAt	0			1			T	R/H	uc001fsu.1	protein_coding	YES	CCDS30902.1			683/975									pancreas(1)	1	c.(682-684)CGT>CAT			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF55,Superfamily_domains:SSF81321	olfactory receptor, family 6, subfamily K,				ENSP00000352626		1-Jan	2.47E-05		0.000174					6.08E-05	rs778393764,COSM3399857	1-Jan	.		ENST00000359610	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000196171	g.chr1:158669760C>T	15029			MODERATE		2.035	medium	getma.org/?cm=msa&ty=f&p=OR6K2_HUMAN&rb=138&re=284&var=R228H	NA	getma.org/?cm=var&var=hg19,1,158669760,C,T&fts=all	R228H	--	--	1																																			0,1	1		benign(0.052)	p.R228H	NM_001005279	NP_001005279		deleterious(0.02)	0,1	OR6K2_HUMAN	OR6K2	HGNC	Q8NGY2	OR6K2_HUMAN					1	683	-	all_hematologic(112;0.0378)		UPI000004B208	228			Cytoplasmic (Potential).		SNV	OR6K2,missense_variant,p.Arg228His,ENST00000359610,NM_001005279.1;OR6K1P,upstream_gene_variant,,ENST00000456766,;	uc001fsu.1	c.683G>A	727/1118	2	2			c.683G>A						1	SNP	c.(682-684)CGT>CAT	34	34			pancreas(1)	1	Broad	olfactory receptor, family 6, subfamily K,			158669760		0.453	ENSG00000196171	11011	g.chr1:158669760C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							129.272451	KEEP	18	26	-1	28	43	18	26	-1	130.662245	28	43	0.382609	1	0	0	0	0	1	0	0	0	--	--		0	T				125	GBM-12-3649-TP	p.R228H	C	TGAATGAATACGTAGAATTAC	NM_001005279	NP_001005279	158669760	Q8NGY2	OR6K2_HUMAN	0			1	683	-	T	T	all_hematologic(112;0.0378)		Missense_Mutation	228			Cytoplasmic (Potential).			
OR6K2	0	broad.mit.edu	GRCh37	1	158670186	158670186	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-2629-01	TCGA-19-2629-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359610.2:c.257T>C	p.Leu86Pro	p.L86P	ENST00000359610	NM_001005279.1	86	cTt/cCt	0			1			G	L/P	uc001fsu.1	protein_coding	YES	CCDS30902.1			257/975									pancreas(1)	1	c.(256-258)CTT>CCT			Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF55,Superfamily_domains:SSF81321	olfactory receptor, family 6, subfamily K,				ENSP00000352626		1-Jan									COSM2156316	1-Jan	.		ENST00000359610	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000196171	g.chr1:158670186A>G	15029			MODERATE		3.13	medium	getma.org/?cm=msa&ty=f&p=OR6K2_HUMAN&rb=1&re=137&var=L86P	getma.org/pdb.php?prot=OR6K2_HUMAN&from=1&to=137&var=L86P	getma.org/?cm=var&var=hg19,1,158670186,A,G&fts=all	L86P	--	--	1																																			1	1		possibly_damaging(0.809)	p.L86P	NM_001005279	NP_001005279		deleterious(0)	1	OR6K2_HUMAN	OR6K2	HGNC	Q8NGY2	OR6K2_HUMAN					1	257	-	all_hematologic(112;0.0378)		UPI000004B208	86			Extracellular (Potential).		SNV	OR6K2,missense_variant,p.Leu86Pro,ENST00000359610,NM_001005279.1;OR6K1P,upstream_gene_variant,,ENST00000456766,;	uc001fsu.1	c.257T>C	301/1118	3	3			c.257T>C						1	SNP	c.(256-258)CTT>CCT	51	51			pancreas(1)	1	Broad	olfactory receptor, family 6, subfamily K,			158670186		0.458	ENSG00000196171	11011	g.chr1:158670186A>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							134.739585	KEEP	17	33	-1	29	34	17	33	-1	135.152962	29	34	0.426966	1	0	0	0	0	1	0	0	0	--	--		0	G				166	GBM-19-2629-TP	p.L86P	A	CCTCTCACTAAGCAGGCTAGA	NM_001005279	NP_001005279	158670186	Q8NGY2	OR6K2_HUMAN	0			1	257	-	G	G	all_hematologic(112;0.0378)		Missense_Mutation	86			Extracellular (Potential).			
OR6K2	81448		GRCh37	1	158669789	158669789	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000359610.2:c.654C>T	p.Ser218=	p.S218=	ENST00000359610	NM_001005279.1	218	tcC/tcT	0																																																																																																																																																																																																																																												
OR6M1	390261		GRCh37	11	123676994	123676994	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000309154.2:c.64C>T	p.Arg22Ter	p.R22*	ENST00000309154	NM_001005325.1	22	Cga/Tga	0																																																																																																																																																																																																																																												
OR6N2	0	broad.mit.edu	GRCh37	1	158746549	158746549	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs144962739		TCGA-19-2623-01	TCGA-19-2623-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339258.1:c.877C>T	p.Arg293Cys	p.R293C	ENST00000339258	NM_001005278.1	293	Cgt/Tgt	0	A:0		1			A	R/C	uc010pir.1	protein_coding	YES	CCDS30906.1			877/954										0	c.(877-879)CGT>TGT			Gene3D:1.20.1070.10,Prints_domain:PR00237,Prints_domain:PR00245,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF68,Superfamily_domains:SSF81321	olfactory receptor, family 6, subfamily N,			A:0.0001	ENSP00000344101		1-Jan	7.41E-05		8.64E-05	0.000578		3.00E-05		6.06E-05	rs144962739,COSM897893	1-Jan	common_variant		ENST00000339258	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000188340	g.chr1:158746549G>A	15035			MODERATE		2.2	medium	getma.org/?cm=msa&ty=f&p=OR6N2_HUMAN&rb=284&re=317&var=R293C	NA	getma.org/?cm=var&var=hg19,1,158746549,G,A&fts=all	R293C	--	--	1																																			0,1	1		benign(0.273)	p.R293C	NM_001005278	NP_001005278		deleterious(0)	0,1	OR6N2_HUMAN	OR6N2	HGNC	Q8NGY6	OR6N2_HUMAN					1	877	-	all_hematologic(112;0.0378)		UPI0000041C8E	293			Cytoplasmic (Potential).		SNV	OR6N2,missense_variant,p.Arg293Cys,ENST00000339258,NM_001005278.1;	uc010pir.1	c.877C>T	877/954	2	2			c.877C>T						1	SNP	c.(877-879)CGT>TGT	33	33				0	Broad	olfactory receptor, family 6, subfamily N,			158746549		0.418	ENSG00000188340	11016	g.chr1:158746549G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							196.61183	KEEP	35	38	-1	94	84	35	38	-1	204.760492	94	84	0.299559	1	0	0	0	0	1	0	0	0	--	--		0	A				163	GBM-19-2623-TP	p.R293C	G	TCCTTGTTACGAAGACTGTAG	NM_001005278	NP_001005278	158746549	Q8NGY6	OR6N2_HUMAN	0			1	877	-	A	A	all_hematologic(112;0.0378)		Missense_Mutation	293			Cytoplasmic (Potential).			
OR6N2	0	broad.mit.edu	GRCh37	1	158746549	158746549	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs144962739		TCGA-32-1979-01	TCGA-32-1979-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339258.1:c.877C>T	p.Arg293Cys	p.R293C	ENST00000339258	NM_001005278.1	293	Cgt/Tgt	0	A:0		1			A	R/C	uc010pir.1	protein_coding	YES	CCDS30906.1			877/954										0	c.(877-879)CGT>TGT			Gene3D:1.20.1070.10,Prints_domain:PR00237,Prints_domain:PR00245,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF68,Superfamily_domains:SSF81321	olfactory receptor, family 6, subfamily N,			A:0.0001	ENSP00000344101		1-Jan	7.41E-05		8.64E-05	0.000578		3.00E-05		6.06E-05	rs144962739,COSM897893	1-Jan	common_variant		ENST00000339258	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000188340	g.chr1:158746549G>A	15035			MODERATE		2.2	medium	getma.org/?cm=msa&ty=f&p=OR6N2_HUMAN&rb=284&re=317&var=R293C	NA	getma.org/?cm=var&var=hg19,1,158746549,G,A&fts=all	R293C	--	--	1																																			0,1	1		benign(0.273)	p.R293C	NM_001005278	NP_001005278		deleterious(0)	0,1	OR6N2_HUMAN	OR6N2	HGNC	Q8NGY6	OR6N2_HUMAN					1	877	-	all_hematologic(112;0.0378)		UPI0000041C8E	293			Cytoplasmic (Potential).		SNV	OR6N2,missense_variant,p.Arg293Cys,ENST00000339258,NM_001005278.1;	uc010pir.1	c.877C>T	877/954	2	2			c.877C>T						1	SNP	c.(877-879)CGT>TGT	33	33				0	Broad	olfactory receptor, family 6, subfamily N,			158746549		0.418	ENSG00000188340	11016	g.chr1:158746549G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							55.574627	KEEP	7	14	-1	15	42	7	14	-1	57.860327	15	42	0.30303	1	0	0	0	0	1	0	0	0	--	--		0	A				230	GBM-32-1979-TP	p.R293C	G	TCCTTGTTACGAAGACTGTAG	NM_001005278	NP_001005278	158746549	Q8NGY6	OR6N2_HUMAN	0			1	877	-	A	A	all_hematologic(112;0.0378)		Missense_Mutation	293			Cytoplasmic (Potential).			
OR6Q1	0	broad.mit.edu	GRCh37	11	57798597	57798597	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2518-01	TCGA-27-2518-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302622.3:c.173G>A	p.Arg58Gln	p.R58Q	ENST00000302622	NM_001005186.2	58	cGg/cAg	0			1			A	R/Q	uc010rjz.1	protein_coding	YES	CCDS31541.1			173/954									kidney(1)	1	c.(172-174)CGG>CAG			Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF140,Superfamily_domains:SSF81321	olfactory receptor, family 6, subfamily Q,				ENSP00000307734		1-Jan	8.24E-06							6.06E-05	rs774364450,COSM3397887	1-Jan	.		ENST00000302622	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000172381	g.chr11:57798597G>A	15302			MODERATE		-1.165	neutral	getma.org/?cm=msa&ty=f&p=OR6Q1_HUMAN&rb=1&re=142&var=R58Q	getma.org/pdb.php?prot=OR6Q1_HUMAN&from=1&to=142&var=R58Q	getma.org/?cm=var&var=hg19,11,57798597,G,A&fts=all	R58Q	--	--	1																																		OR9Q1_uc001nmj.2_Intron	0,1	1		benign(0)	p.R58Q	NM_001005186	NP_001005186		tolerated(0.27)	0,1	OR6Q1_HUMAN	OR6Q1	HGNC	Q8NGQ2	OR6Q1_HUMAN					1	173	+		Breast(21;0.0707)|all_epithelial(135;0.142)	UPI000013E7FD	58			Helical; Name=2; (Potential).		SNV	OR6Q1,missense_variant,p.Arg58Gln,ENST00000302622,NM_001005186.2;OR9Q1,intron_variant,,ENST00000335397,NM_001005212.3;RNU6-899P,upstream_gene_variant,,ENST00000363947,;	uc010rjz.1	c.173G>A	196/1002	1	1			c.173G>A						11	SNP	c.(172-174)CGG>CAG	61	61			kidney(1)	1	Broad	olfactory receptor, family 6, subfamily Q,			57798597		0.483	ENSG00000172381	11017	g.chr11:57798597G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							13.423121	KEEP	13	15	-1	149	167	13	15	-1	65.005343	149	167	0.091205	1	0	0	0	0	1	0	0	0	--	--		0	A			OR9Q1_uc001nmj.2_Intron	198	GBM-27-2518-TP	p.R58Q	G	CACCGACTACGGAGACCCATG	NM_001005186	NP_001005186	57798597	Q8NGQ2	OR6Q1_HUMAN	0			1	173	+	A	A		Breast(21;0.0707)|all_epithelial(135;0.142)	Missense_Mutation	58			Helical; Name=2; (Potential).			
OR6S1	0	broad.mit.edu	GRCh37	14	21109809	21109809	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5215-01	TCGA-28-5215-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320704.3:c.42C>T	p.Phe14=	p.F14=	ENST00000320704	NM_001001968.1	14	ttC/ttT	0			1			A	F	uc001vxv.1	protein_coding	YES	CCDS32038.1			42/996									ovary(1)|skin(1)	2	c.(40-42)TTC>TTT			hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF7,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 6, subfamily S,				ENSP00000313110		1-Jan	1.65E-05					1.52E-05		7.20E-05	rs747004005,COSM3401206	1-Jan	.		ENST00000320704	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000181803	g.chr14:21109809G>A	15363			LOW								--	--	1																																			0,1	1			p.F14F	NM_001001968	NP_001001968			0,1	OR6S1_HUMAN	OR6S1	HGNC	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)			1	42	-	all_cancers(95;0.00304)		UPI000003FE0D	14			Extracellular (Potential).		SNV	OR6S1,synonymous_variant,p.=,ENST00000320704,NM_001001968.1;	uc001vxv.1	c.42C>T	42/996	2	2			c.42C>T						14	SNP	c.(40-42)TTC>TTT	28	28			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 6, subfamily S,			21109809		0.453	ENSG00000181803	11018	g.chr14:21109809G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							467.176221	KEEP	101	88	-1	64	45	101	88	-1	471.698066	64	45	0.642857	1	0	0	0	0	0	0	1	0	--	--		0	A				222	GBM-28-5215-TP	p.F14F	G	CTGCCAGGACGAACTCTGTTG	NM_001001968	NP_001001968	21109809	Q8NH40	OR6S1_HUMAN	0	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	1	42	-	A	A	all_cancers(95;0.00304)		Silent	14			Extracellular (Potential).			
OR6V1	346517	broad.mit.edu	GRCh37	7	142749846	142749846	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-5411-01	TCGA-06-5411-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000418316.1:c.409G>T	p.Ala137Ser	p.A137S	ENST00000418316	NM_001001667.1	137	Gct/Tct	0			1			T	A/S	uc011ksv.1	protein_coding	YES	CCDS47728.1			409/942									ovary(1)	1	c.(409-411)GCT>TCT			Prints_domain:PR00245,Superfamily_domains:SSF81321,Pfam_domain:PF10320,Gene3D:1.20.1070.10,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF10,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	olfactory receptor, family 6, subfamily V,				ENSP00000396085		1-Jan									COSM3411712,COSM3411713	1-Jan	.		ENST00000418316	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000225781	g.chr7:142749846G>T	15090			MODERATE		-0.41	neutral	getma.org/?cm=msa&ty=f&p=OR6V1_HUMAN&rb=137&re=281&var=A137S	NA	getma.org/?cm=var&var=hg19,7,142749846,G,T&fts=all	A137S	--	--	1																																			1,1	1		benign(0.033)	p.A137S	NM_001001667	NP_001001667		tolerated(0.79)	1,1	OR6V1_HUMAN	OR6V1	HGNC	Q8N148	OR6V1_HUMAN					1	409	+	Melanoma(164;0.059)		UPI0000041C19	137			Cytoplasmic (Potential).		SNV	OR6V1,missense_variant,p.Ala137Ser,ENST00000418316,NM_001001667.1;	uc011ksv.1	c.409G>T	430/1028	2	2			c.409G>T						7	SNP	c.(409-411)GCT>TCT	35	35			ovary(1)	1	Broad	olfactory receptor, family 6, subfamily V,			142749846		0.597	ENSG00000225781	11020	g.chr7:142749846G>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							89.145009	KEEP	24	17	0.585365854	67	60	24	17	0.585365854	97.849824	67	60	0.244898	1	0	0	0	0	1	0	0	0	--	--		0	T				94	GBM-06-5411-TP	p.A137S	G	GATGAGCCGGGCTATGTGTGT	NM_001001667	NP_001001667	142749846	Q8N148	OR6V1_HUMAN	0			1	409	+	T	T	Melanoma(164;0.059)		Missense_Mutation	137			Cytoplasmic (Potential).			
OR6V1	0	broad.mit.edu	GRCh37	7	142750291	142750291	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01	TCGA-32-4719-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000418316.1:c.854C>T	p.Pro285Leu	p.P285L	ENST00000418316	NM_001001667.1	285	cCc/cTc	0			1			T	P/L	uc011ksv.1	protein_coding	YES	CCDS47728.1			854/942									ovary(1)	1	c.(853-855)CCC>CTC			Prints_domain:PR00237,Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF10,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix	olfactory receptor, family 6, subfamily V,				ENSP00000396085		1-Jan									COSM3411714,COSM3411715	1-Jan	.		ENST00000418316	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000225781	g.chr7:142750291C>T	15090			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=OR6V1_HUMAN&rb=282&re=313&var=P285L	NA	getma.org/?cm=var&var=hg19,7,142750291,C,T&fts=all	P285L	--	--	1																																			1,1	1		probably_damaging(0.915)	p.P285L	NM_001001667	NP_001001667		deleterious(0.01)	1,1	OR6V1_HUMAN	OR6V1	HGNC	Q8N148	OR6V1_HUMAN					1	854	+	Melanoma(164;0.059)		UPI0000041C19	285			Helical; Name=7; (Potential).		SNV	OR6V1,missense_variant,p.Pro285Leu,ENST00000418316,NM_001001667.1;	uc011ksv.1	c.854C>T	875/1028	2	2			c.854C>T						7	SNP	c.(853-855)CCC>CTC	17	17			ovary(1)	1	Broad	olfactory receptor, family 6, subfamily V,			142750291		0.507	ENSG00000225781	11020	g.chr7:142750291C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							93.46354	KEEP	11	24	-1	20	30	11	24	-1	94.168415	20	30	0.4	1	0	0	0	0	1	0	0	0	--	--		0	T				248	GBM-32-4719-TP	p.P285L	C	TTTCTCAATCCCTTTATCCTT	NM_001001667	NP_001001667	142750291	Q8N148	OR6V1_HUMAN	0			1	854	+	T	T	Melanoma(164;0.059)		Missense_Mutation	285			Helical; Name=7; (Potential).			
OR6X1	0	broad.mit.edu	GRCh37	11	123624636	123624636	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5220-01	TCGA-28-5220-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327930.2:c.591C>T	p.Gly197=	p.G197=	ENST00000327930	NM_001005188.1	197	ggC/ggT	0			1			A	G	uc010rzy.1	protein_coding	YES	CCDS31695.1			591/939									ovary(2)|skin(1)	3	c.(589-591)GGC>GGT			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF30,Superfamily_domains:SSF81321	olfactory receptor, family 6, subfamily X,				ENSP00000333724		1-Jan	1.65E-05	9.65E-05				1.50E-05			rs776817105,COSM3397501	1-Jan	.		ENST00000327930	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000221931	g.chr11:123624636G>A	14737			LOW								--	--	1																																			0,1	1			p.G197G	NM_001005188	NP_001005188			0,1	OR6X1_HUMAN	OR6X1	HGNC	Q8NH79	OR6X1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)			1	591	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	UPI000004B1D5	197			Helical; Name=5; (Potential).		SNV	OR6X1,synonymous_variant,p.=,ENST00000327930,NM_001005188.1;	uc010rzy.1	c.591C>T	618/1058	1	1			c.591C>T						11	SNP	c.(589-591)GGC>GGT	62	62			ovary(2)|skin(1)	3	Broad	olfactory receptor, family 6, subfamily X,			123624636		0.448	ENSG00000221931	11021	g.chr11:123624636G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							12.213008	KEEP	15	13	-1	142	104	15	13	-1	53.143227	142	104	0.096	1	0	0	0	0	0	0	1	0	--	--		0	A				226	GBM-28-5220-TP	p.G197G	G	TTGCTATGACGCCCAGGAGTT	NM_001005188	NP_001005188	123624636	Q8NH79	OR6X1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	591	-	A	A		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	Silent	197			Helical; Name=5; (Potential).			
OR7A10	390892	broad.mit.edu	GRCh37	19	14951796	14951796	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0747-01	TCGA-06-0747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000248058.1:c.894G>T	p.Lys298Asn	p.K298N	ENST00000248058	NM_001005190.1	298	aaG/aaT	0			1			A	K/N	uc002mzx.1	protein_coding	YES	CCDS32936.1			894/930										0	c.(892-894)AAG>AAT			hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF263,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 7, subfamily A,				ENSP00000248058		1-Jan									COSM2151807	1-Jan	.		ENST00000248058	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000127515	g.chr19:14951796C>A	8356			MODERATE		3.645	high	getma.org/?cm=msa&ty=f&p=OR7AA_HUMAN&rb=254&re=309&var=K298N	NA	getma.org/?cm=var&var=hg19,19,14951796,C,A&fts=all	K298N	--	--	1																																			1	1		benign(0.01)	p.K298N	NM_001005190	NP_001005190		deleterious_low_confidence(0.02)	1	OR7AA_HUMAN	OR7A10	HGNC	O76100	OR7AA_HUMAN					1	894	-	Ovarian(108;0.203)		UPI0000130B4B	298			Cytoplasmic (Potential).		SNV	OR7A10,missense_variant,p.Lys298Asn,ENST00000248058,NM_001005190.1;	uc002mzx.1	c.894G>T	894/930	2	2			c.894G>T						19	SNP	c.(892-894)AAG>AAT	24	24				0	Broad	olfactory receptor, family 7, subfamily A,			14951796		0.468	ENSG00000127515	11023	g.chr19:14951796C>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							98.008714	KEEP	25	17	0.404761905	75	63	25	17	0.404761905	108.72316	75	63	0.236686	1	0	0	0	0	1	0	0	0	--	--		0	A				68	GBM-06-0747-TP	p.K298N	C	TCATAGCACCCTTTATGTGTT	NM_001005190	NP_001005190	14951796	O76100	OR7AA_HUMAN	0			1	894	-	A	A	Ovarian(108;0.203)		Missense_Mutation	298			Cytoplasmic (Potential).			
OR7A10	0	broad.mit.edu	GRCh37	19	14952342	14952342	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000248058.1:c.348C>T	p.Thr116=	p.T116=	ENST00000248058	NM_001005190.1	116	acC/acT	0			1			A	T	uc002mzx.1	protein_coding	YES	CCDS32936.1			348/930										0	c.(346-348)ACC>ACT			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF263,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 7, subfamily A,				ENSP00000248058		1-Jan	1.65E-05					3.00E-05			rs757173899,COSM3403837	1-Jan	.		ENST00000248058	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000127515	g.chr19:14952342G>A	8356			LOW								--	--	1																																			0,1	1			p.T116T	NM_001005190	NP_001005190			0,1	OR7AA_HUMAN	OR7A10	HGNC	O76100	OR7AA_HUMAN					1	348	-	Ovarian(108;0.203)		UPI0000130B4B	116			Helical; Name=3; (Potential).		SNV	OR7A10,synonymous_variant,p.=,ENST00000248058,NM_001005190.1;	uc002mzx.1	c.348C>T	348/930	2	2			c.348C>T						19	SNP	c.(346-348)ACC>ACT	38	38				0	Broad	olfactory receptor, family 7, subfamily A,			14952342		0.483	ENSG00000127515	11023	g.chr19:14952342G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							85.774702	KEEP	21	11	-1	45	51	21	11	-1	91.950624	45	51	0.260504	1	0	0	0	0	0	0	1	0	--	--		0	A				162	GBM-19-2620-TP	p.T116T	G	AGGCCATCACGGTCAGAAGGA	NM_001005190	NP_001005190	14952342	O76100	OR7AA_HUMAN	0			1	348	-	A	A	Ovarian(108;0.203)		Silent	116			Helical; Name=3; (Potential).			
OR7A10	0	broad.mit.edu	GRCh37	19	14951969	14951969	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-27-1836-01	TCGA-27-1836-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000248058.1:c.721T>A	p.Cys241Ser	p.C241S	ENST00000248058	NM_001005190.1	241	Tgt/Agt	0			1			T	C/S	uc002mzx.1	protein_coding	YES	CCDS32936.1			721/930										0	c.(721-723)TGT>AGT			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF263,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	olfactory receptor, family 7, subfamily A,				ENSP00000248058		1-Jan									COSM3403836	1-Jan	.		ENST00000248058	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000127515	g.chr19:14951969A>T	8356			MODERATE		4.365	high	getma.org/?cm=msa&ty=f&p=OR7AA_HUMAN&rb=139&re=283&var=C241S	NA	getma.org/?cm=var&var=hg19,19,14951969,A,T&fts=all	C241S	--	--	1																																			1	1		possibly_damaging(0.751)	p.C241S	NM_001005190	NP_001005190		deleterious_low_confidence(0)	1	OR7AA_HUMAN	OR7A10	HGNC	O76100	OR7AA_HUMAN					1	721	-	Ovarian(108;0.203)		UPI0000130B4B	241			Helical; Name=6; (Potential).		SNV	OR7A10,missense_variant,p.Cys241Ser,ENST00000248058,NM_001005190.1;	uc002mzx.1	c.721T>A	721/930	2	2			c.721T>A						19	SNP	c.(721-723)TGT>AGT	48	48				0	Broad	olfactory receptor, family 7, subfamily A,			14951969		0.488	ENSG00000127515	11023	g.chr19:14951969A>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-24.281009	KEEP	0	3	-1	61	68	0	3	-1	6.321047	61	68	0.02459	1	0	0	0	0	1	0	0	0	--	--		0	T				195	GBM-27-1836-TP	p.C241S	A	TGAGATGCACAGGTGGAAAAT	NM_001005190	NP_001005190	14951969	O76100	OR7AA_HUMAN	0			1	721	-	T	T	Ovarian(108;0.203)		Missense_Mutation	241			Helical; Name=6; (Potential).			
OR7A17	0	broad.mit.edu	GRCh37	19	14991689	14991689	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327462.2:c.479G>T	p.Ser160Ile	p.S160I	ENST00000327462	NM_030901.1	160	aGc/aTc	0			1			A	S/I	uc010xob.1	protein_coding	YES	CCDS12319.1			479/930										0	c.(478-480)AGC>ATC			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF263,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321	olfactory receptor, family 7, subfamily A,				ENSP00000328144		1-Jan									COSM3403838	1-Jan	.		ENST00000327462	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000185385	g.chr19:14991689C>A	8363			MODERATE		0.63	neutral	getma.org/?cm=msa&ty=f&p=OR7AH_HUMAN&rb=139&re=283&var=S160I	NA	getma.org/?cm=var&var=hg19,19,14991689,C,A&fts=all	S160I	--	--	1																																			1	1		benign(0.25)	p.S160I	NM_030901	NP_112163		deleterious_low_confidence(0.04)	1	OR7AH_HUMAN	OR7A17	HGNC	O14581	OR7AH_HUMAN			Q9UEB1_HUMAN		1	479	-	Ovarian(108;0.203)		UPI0000041DF9	160			Helical; Name=4; (Potential).		SNV	OR7A17,missense_variant,p.Ser160Ile,ENST00000327462,NM_030901.1;	uc010xob.1	c.479G>T	576/1127	2	2			c.479G>T						19	SNP	c.(478-480)AGC>ATC	35	35				0	Broad	olfactory receptor, family 7, subfamily A,			14991689		0.483	ENSG00000185385	11024	g.chr19:14991689C>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							191.352647	KEEP	36	35	0.492957746	77	70	36	35	0.492957746	195.810685	77	70	0.340102	1	0	0	0	0	1	0	0	0	--	--		0	A				159	GBM-19-1390-TP	p.S160I	C	TACCATTAAGCTTTGTGACAA	NM_030901	NP_112163	14991689	O14581	OR7AH_HUMAN	0			1	479	-	A	A	Ovarian(108;0.203)		Missense_Mutation	160			Helical; Name=4; (Potential).			
OR7A5	26659		GRCh37	19	14938368	14938368	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2510-01	TCGA-28-2510-01																				ENST00000322301.3:c.686C>T	p.Ser229Leu	p.S229L	ENST00000322301		229	tCa/tTa	0																																																																																																																																																																																																																																												
OR7C1	0	broad.mit.edu	GRCh37	19	14910414	14910414	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-19-2623-01	TCGA-19-2623-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000248073.2:c.535delT	p.Cys179ValfsTer7	p.C179Vfs*7	ENST00000248073	NM_198944.1	179	Tgt/gt	0			1			-	C/X	uc010xnz.1	protein_coding	YES	CCDS12317.1			535/963									ovary(2)	2	c.(535-537)TGTfs			PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF24,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	olfactory receptor, family 7, subfamily C,				ENSP00000248073		1-Jan									COSM294656	1-Jan	.		ENST00000248073	Transcript			sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000127530	g.chr19:14910414delA	8373			HIGH								--	--	1																																			1	1			p.C179fs	NM_198944	NP_945182			1	OR7C1_HUMAN	OR7C1	HGNC	O76099	OR7C1_HUMAN					1	535	-			UPI0000130B4C	179			Extracellular (Potential).		deletion	OR7C1,frameshift_variant,p.Cys179ValfsTer7,ENST00000248073,NM_198944.1;OR7A5,intron_variant,,ENST00000601611,;OR7A5,downstream_gene_variant,,ENST00000595922,;OR7A5,downstream_gene_variant,,ENST00000599549,;	uc010xnz.1	c.535delT	610/1066	5	5			c.535delT						19	DEL	c.(535-537)TGTfs	33	33			ovary(2)	2	Broad	olfactory receptor, family 7, subfamily C,			14910414		0.478	ENSG00000127530	11026	g.chr19:14910414delA	sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity																				0.29	1	1	0	1	0	0	0	0	0	--	--		0	-				163	GBM-19-2623-TP	p.C179fs	A	AGTAGATCACAAAAAAAGTGT	NM_198944	NP_945182	14910414	O76099	OR7C1_HUMAN	0			1	535	-	-	-			Frame_Shift_Del	179			Extracellular (Potential).			
OR7D2	162998	broad.mit.edu	GRCh37	19	9297245	9297245	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0154-01	TCGA-06-0154-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344248.2:c.788C>T	p.Ala263Val	p.A263V	ENST00000344248	NM_175883.2	263	gCg/gTg	0			1			T	A/V	uc002mkz.1	protein_coding	YES	CCDS32900.1			788/939									ovary(2)|upper_aerodigestive_tract(1)	3	c.(787-789)GCG>GTG			Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26451:SF157,hmmpanther:PTHR26451,PROSITE_profiles:PS50262	olfactory receptor, family 7, subfamily D,				ENSP00000345563		1-Jan									rs201184916,COSM715098	1-Jan	.		ENST00000344248	Transcript			regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000188000	g.chr19:9297245C>T	8378			MODERATE		1.6	low	getma.org/?cm=msa&ty=f&p=OR7D2_HUMAN&rb=139&re=283&var=A263V	NA	getma.org/?cm=var&var=hg19,19,9297245,C,T&fts=all	A263V	--	--	1																																			0,1	1		benign(0.066)	p.A263V	NM_175883	NP_787079		deleterious_low_confidence(0.03)	0,1	OR7D2_HUMAN	OR7D2	HGNC	Q96RA2	OR7D2_HUMAN					1	976	+			UPI0000041C0C	263			Extracellular (Potential).		SNV	OR7D2,missense_variant,p.Ala263Val,ENST00000344248,NM_175883.2;OR7E16P,upstream_gene_variant,,ENST00000592975,;TCEB1P29,upstream_gene_variant,,ENST00000588193,;	uc002mkz.1	c.788C>T	967/3215	2	2			c.788C>T						19	SNP	c.(787-789)GCG>GTG	41	41			ovary(2)|upper_aerodigestive_tract(1)	3	Broad	olfactory receptor, family 7, subfamily D,			9297245		0.507	ENSG00000188000	11028	g.chr19:9297245C>T	regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							103.94107	KEEP	23	31	-1	126	112	23	31	-1	127.358109	126	112	0.1875	1	0	0	0	0	1	0	0	0	--	--		0	T				26	GBM-06-0154-TP	p.A263V	C	TTCACTTCTGCGGTGACTCAC	NM_175883	NP_787079	9297245	Q96RA2	OR7D2_HUMAN	0			1	976	+	T	T			Missense_Mutation	263			Extracellular (Potential).			
OR7G2	390882	broad.mit.edu	GRCh37	19	9213120	9213120	+	stop_gained	Nonsense_Mutation	SNP	G	G	C			TCGA-06-0122-01	TCGA-06-0122-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305456.2:c.863C>G	p.Ser288Ter	p.S288*	ENST00000305456	NM_001005193.1	288	tCa/tGa	0			1			C	S/*	uc010xkk.1	protein_coding	YES	CCDS32897.1			863/1038									skin(1)	1	c.(862-864)TCA>TGA			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF185,Superfamily_domains:SSF81321	olfactory receptor, family 7, subfamily G,				ENSP00000303822		1-Jan									COSM2149240	1-Jan	.		ENST00000305456	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000170923	g.chr19:9213120G>C	8466			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,19,9213120,G,C&fts=all	S267*	--	--	1																																			1	1			p.S288*	NM_001005193	NP_001005193			1	OR7G2_HUMAN	OR7G2	HGNC	Q8NG99	OR7G2_HUMAN					1	863	-			UPI00000472B7	267			Extracellular (Potential).		SNV	OR7G2,stop_gained,p.Ser288Ter,ENST00000305456,NM_001005193.1;	uc010xkk.1	c.863C>G	863/1038	5	3			c.863C>G						19	SNP	c.(862-864)TCA>TGA	57	57			skin(1)	1	Broad	olfactory receptor, family 7, subfamily G,			9213120		0.463	ENSG00000170923	11032	g.chr19:9213120G>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	Esophageal Squamous(67;143 1448 28637 40648)			Esophageal Squamous(67;143 1448 28637 40648)			62.770137	KEEP	13	14	-1	41	46	13	14	-1	70.020739	41	46	0.223301	1	0	0	0	0	0	1	0	0	--	--		0	C				10	GBM-06-0122-TP	p.S288*	G	CTTCCTAGGTGAGTCAGTAAC	NM_001005193	NP_001005193	9213120	Q8NG99	OR7G2_HUMAN	0			1	863	-	C	C			Nonsense_Mutation	267			Extracellular (Potential).			
OR7G2	390882	broad.mit.edu	GRCh37	19	9213088	9213088	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0126-01	TCGA-06-0126-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305456.2:c.895T>A	p.Tyr299Asn	p.Y299N	ENST00000305456	NM_001005193.1	299	Tat/Aat	0			1			T	Y/N	uc010xkk.1	protein_coding	YES	CCDS32897.1			895/1038									skin(1)	1	c.(895-897)TAT>AAT			Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF185,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 7, subfamily G,				ENSP00000303822		1-Jan									COSM2149460	1-Jan	.		ENST00000305456	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000170923	g.chr19:9213088A>T	8466			MODERATE		3.48	medium	getma.org/?cm=msa&ty=f&p=OR7G2_HUMAN&rb=139&re=283&var=Y278N	NA	getma.org/?cm=var&var=hg19,19,9213088,A,T&fts=all	Y278N	--	--	1																																			1	1		probably_damaging(1)	p.Y299N	NM_001005193	NP_001005193		deleterious(0)	1	OR7G2_HUMAN	OR7G2	HGNC	Q8NG99	OR7G2_HUMAN					1	895	-			UPI00000472B7	278			Helical; Name=7; (Potential).		SNV	OR7G2,missense_variant,p.Tyr299Asn,ENST00000305456,NM_001005193.1;	uc010xkk.1	c.895T>A	895/1038	2	2			c.895T>A						19	SNP	c.(895-897)TAT>AAT	17	17			skin(1)	1	Broad	olfactory receptor, family 7, subfamily G,			9213088		0.453	ENSG00000170923	11032	g.chr19:9213088A>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	Esophageal Squamous(67;143 1448 28637 40648)			Esophageal Squamous(67;143 1448 28637 40648)			50.507614	KEEP	17	14	-1	36	53	17	14	-1	58.223005	36	53	0.222222	1	0	0	0	0	1	0	0	0	--	--		0	T				13	GBM-06-0126-TP	p.Y299N	A	AACACAGAATACATCACTGAA	NM_001005193	NP_001005193	9213088	Q8NG99	OR7G2_HUMAN	0			1	895	-	T	T			Missense_Mutation	278			Helical; Name=7; (Potential).			
OR7G2	390882		GRCh37	19	9213273	9213273	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000305456.2:c.710T>C	p.Leu237Ser	p.L237S	ENST00000305456	NM_001005193.1	237	tTg/tCg	0																																																																																																																																																																																																																																												
OR7G3	0	broad.mit.edu	GRCh37	19	9237058	9237058	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01	TCGA-32-4719-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305444.2:c.569C>T	p.Ser190Phe	p.S190F	ENST00000305444	NM_001001958.1	190	tCt/tTt	0			1			A	S/F	uc010xkl.1	protein_coding	YES	CCDS32899.1			569/939									ovary(1)	1	c.(568-570)TCT>TTT			PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF20,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245	olfactory receptor, family 7, subfamily G,				ENSP00000302867		1-Jan									COSM3404919	1-Jan	.		ENST00000305444	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000170920	g.chr19:9237058G>A	8467			MODERATE		3.87	high	getma.org/?cm=msa&ty=f&p=OR7G3_HUMAN&rb=139&re=283&var=S190F	NA	getma.org/?cm=var&var=hg19,19,9237058,G,A&fts=all	S190F	--	--	1																																			1	1		probably_damaging(0.998)	p.S190F	NM_001001958	NP_001001958		deleterious(0)	1	OR7G3_HUMAN	OR7G3	HGNC	Q8NG95	OR7G3_HUMAN					1	569	-			UPI0000041C0E	190			Extracellular (Potential).		SNV	OR7G3,missense_variant,p.Ser190Phe,ENST00000305444,NM_001001958.1;	uc010xkl.1	c.569C>T	569/939	1	1			c.569C>T						19	SNP	c.(568-570)TCT>TTT	49	49			ovary(1)	1	Broad	olfactory receptor, family 7, subfamily G,			9237058		0.463	ENSG00000170920	11033	g.chr19:9237058G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							42.920016	KEEP	14	7	-1	46	61	14	7	-1	55.343713	46	61	0.168067	1	0	0	0	0	1	0	0	0	--	--		0	A				248	GBM-32-4719-TP	p.S190F	G	GAGGACATCAGAACAGGCGAG	NM_001001958	NP_001001958	9237058	Q8NG95	OR7G3_HUMAN	0			1	569	-	A	A			Missense_Mutation	190			Extracellular (Potential).			
OR8A1	0	broad.mit.edu	GRCh37	11	124440668	124440668	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-12-3649-01	TCGA-12-3649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284287.3:c.704C>A	p.Thr235Asn	p.T235N	ENST00000284287	NM_001005194.1	235	aCc/aAc	0			1			A	T/N	uc010san.1	protein_coding	YES	CCDS31712.1			704/981									ovary(1)	1	c.(703-705)ACC>AAC			Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF49,PROSITE_profiles:PS50262	olfactory receptor, family 8, subfamily A,				ENSP00000284287		1-Jan									COSM3397515	1-Jan	.		ENST00000284287	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000196119	g.chr11:124440668C>A	8469			MODERATE		2.525	medium	getma.org/?cm=msa&ty=f&p=OR8A1_HUMAN&rb=156&re=299&var=T235N	NA	getma.org/?cm=var&var=hg19,11,124440668,C,A&fts=all	T235N	--	--	1																																			1	1		benign(0.217)	p.T235N	NM_001005194	NP_001005194		deleterious(0.01)	1	OR8A1_HUMAN	OR8A1	HGNC	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)			1	704	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	UPI00003B286D	235			Helical; Name=5; (Potential).		SNV	OR8A1,missense_variant,p.Thr235Asn,ENST00000284287,NM_001005194.1;	uc010san.1	c.704C>A	776/1145	2	2			c.704C>A						11	SNP	c.(703-705)ACC>AAC	30	30			ovary(1)	1	Broad	olfactory receptor, family 8, subfamily A,			124440668		0.493	ENSG00000196119	11034	g.chr11:124440668C>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							128.102588	KEEP	19	27	0.586956522	32	42	19	27	0.586956522	129.515363	32	42	0.380531	1	0	0	0	0	1	0	0	0	--	--		0	A				125	GBM-12-3649-TP	p.T235N	C	GTTTCTTACACCTTCATTCTC	NM_001005194	NP_001005194	124440668	Q8NGG7	OR8A1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	1	704	+	A	A		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	Missense_Mutation	235			Helical; Name=5; (Potential).			
OR8A1	0	broad.mit.edu	GRCh37	11	124440263	124440263	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-28-2513-01	TCGA-28-2513-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284287.3:c.299T>A	p.Val100Glu	p.V100E	ENST00000284287	NM_001005194.1	100	gTg/gAg	0			1			A	V/E	uc010san.1	protein_coding	YES	CCDS31712.1			299/981									ovary(1)	1	c.(298-300)GTG>GAG			Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF49,PROSITE_profiles:PS50262	olfactory receptor, family 8, subfamily A,				ENSP00000284287		1-Jan									COSM3397514	1-Jan	.		ENST00000284287	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000196119	g.chr11:124440263T>A	8469			MODERATE		1.51	low	getma.org/?cm=msa&ty=f&p=OR8A1_HUMAN&rb=1&re=155&var=V100E	getma.org/pdb.php?prot=OR8A1_HUMAN&from=1&to=155&var=V100E	getma.org/?cm=var&var=hg19,11,124440263,T,A&fts=all	V100E	--	--	1																																			1	1		possibly_damaging(0.646)	p.V100E	NM_001005194	NP_001005194		deleterious(0.05)	1	OR8A1_HUMAN	OR8A1	HGNC	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)			1	299	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	UPI00003B286D	100			Helical; Name=2; (Potential).		SNV	OR8A1,missense_variant,p.Val100Glu,ENST00000284287,NM_001005194.1;	uc010san.1	c.299T>A	371/1145	2	2			c.299T>A						11	SNP	c.(298-300)GTG>GAG	45	45			ovary(1)	1	Broad	olfactory receptor, family 8, subfamily A,			124440263		0.463	ENSG00000196119	11034	g.chr11:124440263T>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							62.089096	KEEP	17	21	-1	111	125	17	21	-1	93.450099	111	125	0.137652	1	0	0	0	0	1	0	0	0	--	--		0	A				213	GBM-28-2513-TP	p.V100E	T	AAGATGCTGGTGAACTTTGTG	NM_001005194	NP_001005194	124440263	Q8NGG7	OR8A1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	1	299	+	A	A		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	Missense_Mutation	100			Helical; Name=2; (Potential).			
OR8B4	283162		GRCh37	11	124294437	124294439	+	inframe_deletion	In_Frame_Del	DEL	ACT	ACT	-			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000356130.3:c.329_331del	p.Glu110_Cys111delinsGly	p.E110_C111delinsG	ENST00000356130	NM_001005196.1	110	gAGTgc/ggc	0																																																																																																																																																																																																																																												
OR8D1	0	broad.mit.edu	GRCh37	11	124180313	124180313	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357821.2:c.350C>G	p.Ala117Gly	p.A117G	ENST00000357821	NM_001002917.1	117	gCc/gGc	0			1			C	A/G	uc010sag.1	protein_coding	YES	CCDS31706.1			350/927									ovary(2)|skin(1)	3	c.(349-351)GCC>GGC			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF66,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 8, subfamily D,				ENSP00000350474		1-Jan									COSM3397513	1-Jan	.		ENST00000357821	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000196341	g.chr11:124180313G>C	8481			MODERATE		3.035	medium	getma.org/?cm=msa&ty=f&p=OR8D1_HUMAN&rb=1&re=138&var=A117G	getma.org/pdb.php?prot=OR8D1_HUMAN&from=1&to=138&var=A117G	getma.org/?cm=var&var=hg19,11,124180313,G,C&fts=all	A117G	--	--	1																																			1	1		benign(0.316)	p.A117G	NM_001002917	NP_001002917		deleterious(0)	1	OR8D1_HUMAN	OR8D1	HGNC	Q8WZ84	OR8D1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)			1	350	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	UPI0000041D9D	117			Helical; Name=3; (Potential).		SNV	OR8D1,missense_variant,p.Ala117Gly,ENST00000357821,NM_001002917.1;	uc010sag.1	c.350C>G	421/1026	3	3			c.350C>G						11	SNP	c.(349-351)GCC>GGC	1	1			ovary(2)|skin(1)	3	Broad	olfactory receptor, family 8, subfamily D,			124180313		0.478	ENSG00000196341	11040	g.chr11:124180313G>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							1.432364	KEEP	2	0	-1	11	16	2	0	-1	6.725922	11	16	0.071429	1	0	0	0	0	1	0	0	0	--	--		0	C				160	GBM-19-1790-TP	p.A117G	G	ATATGCCATGGCAGTCAGGAG	NM_001002917	NP_001002917	124180313	Q8WZ84	OR8D1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	350	-	C	C		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	Missense_Mutation	117			Helical; Name=3; (Potential).			
OR8D1	283159		GRCh37	11	124180280	124180280	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2510-01	TCGA-28-2510-01																				ENST00000357821.2:c.383G>A	p.Ser128Asn	p.S128N	ENST00000357821	NM_001002917.1	128	aGc/aAc	0																																																																																																																																																																																																																																												
OR8D1	283159		GRCh37	11	124179842	124179842	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000357821.2:c.821C>T	p.Ser274Phe	p.S274F	ENST00000357821	NM_001002917.1	274	tCc/tTc	0																																																																																																																																																																																																																																												
OR8D4	338662	broad.mit.edu	GRCh37	11	123777647	123777647	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321355.2:c.509G>A	p.Gly170Glu	p.G170E	ENST00000321355	NM_001005197.1	170	gGa/gAa	0			1			A	G/E	uc010saa.1	protein_coding	YES	CCDS31698.1			509/945									skin(1)	1	c.(508-510)GGA>GAA			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF21,Superfamily_domains:SSF81321	olfactory receptor, family 8, subfamily D,				ENSP00000325381		1-Jan									COSM3397503	1-Jan	.		ENST00000321355	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000181518	g.chr11:123777647G>A	14840			MODERATE		2.115	medium	getma.org/?cm=msa&ty=f&p=OR8D4_HUMAN&rb=139&re=283&var=G170E	NA	getma.org/?cm=var&var=hg19,11,123777647,G,A&fts=all	G170E	--	--	1																																			1	1		benign(0.052)	p.G170E	NM_001005197	NP_001005197		tolerated(0.33)	1	OR8D4_HUMAN	OR8D4	HGNC	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)			1	509	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	UPI0000040A83	170			Extracellular (Potential).		SNV	OR8D4,missense_variant,p.Gly170Glu,ENST00000321355,NM_001005197.1;	uc010saa.1	c.509G>A	539/1075	2	2			c.509G>A						11	SNP	c.(508-510)GGA>GAA	20	20			skin(1)	1	Broad	olfactory receptor, family 8, subfamily D,			123777647		0.418	ENSG00000181518	11042	g.chr11:123777647G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							503.017487	KEEP	100	87	-1	178	180	100	87	-1	511.79966	178	180	0.356701	1	0	0	0	0	1	0	0	0	--	--		0	A				8	GBM-02-2486-TP	p.G170E	G	TCTTTCTGTGGATCAAACATC	NM_001005197	NP_001005197	123777647	Q8NGM9	OR8D4_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	509	+	A	A		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	Missense_Mutation	170			Extracellular (Potential).			
OR8D4	0	broad.mit.edu	GRCh37	11	123777373	123777373	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-26-5134-01	TCGA-26-5134-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321355.2:c.235C>A	p.Pro79Thr	p.P79T	ENST00000321355	NM_001005197.1	79	Cct/Act	0			1			A	P/T	uc010saa.1	protein_coding	YES	CCDS31698.1			235/945									skin(1)	1	c.(235-237)CCT>ACT			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF21,Superfamily_domains:SSF81321	olfactory receptor, family 8, subfamily D,				ENSP00000325381		1-Jan									COSM2157000	1-Jan	.		ENST00000321355	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000181518	g.chr11:123777373C>A	14840			MODERATE		3.865	high	getma.org/?cm=msa&ty=f&p=OR8D4_HUMAN&rb=1&re=138&var=P79T	getma.org/pdb.php?prot=OR8D4_HUMAN&from=1&to=138&var=P79T	getma.org/?cm=var&var=hg19,11,123777373,C,A&fts=all	P79T	--	--	1																																			1	1		probably_damaging(0.999)	p.P79T	NM_001005197	NP_001005197		deleterious(0)	1	OR8D4_HUMAN	OR8D4	HGNC	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)			1	235	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	UPI0000040A83	79			Extracellular (Potential).		SNV	OR8D4,missense_variant,p.Pro79Thr,ENST00000321355,NM_001005197.1;	uc010saa.1	c.235C>A	265/1075	1	1			c.235C>A						11	SNP	c.(235-237)CCT>ACT	56	56			skin(1)	1	Broad	olfactory receptor, family 8, subfamily D,			123777373		0.358	ENSG00000181518	11042	g.chr11:123777373C>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							734.728779	KEEP	135	117	0.464285714	175	132	135	117	0.464285714	735.841174	175	132	0.451311	1	0	0	0	0	1	0	0	0	--	--		0	A				183	GBM-26-5134-TP	p.P79T	C	TGTCATTACCCCTAAAATGCT	NM_001005197	NP_001005197	123777373	Q8NGM9	OR8D4_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	235	+	A	A		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	Missense_Mutation	79			Extracellular (Potential).			
OR8G2P	0	broad.mit.edu	GRCh37	11	124095935	124095935	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C			TCGA-27-2524-01	TCGA-27-2524-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366149.3:n.499T>C		*167*	ENST00000366149				0			1			C		uc010saf.1	pseudogene	YES														0	c.(538-540)TTT>CTT				olfactory receptor, family 8, subfamily G,						2-Jan										2-Jan	.		ENST00000366149	Transcript				integral to membrane	olfactory receptor activity	ENSG00000181214	g.chr11:124095935T>C				MODIFIER		0.075	neutral	getma.org/?cm=msa&ty=f&p=OR8G2_HUMAN&rb=139&re=283&var=F167L	NA	getma.org/?cm=var&var=hg19,11,124095935,T,C&fts=all	F167L	--	--	1																																				1			p.F180L	NM_001007249	NP_001007250					OR8G2P	Clone_based_vega_gene	Q15614	OR8G2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)			1	538	+		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		180					SNV	OR8G2P,non_coding_transcript_exon_variant,,ENST00000366149,;OR8G2P,non_coding_transcript_exon_variant,,ENST00000412796,;	uc010saf.1	c.538T>C	499/927	4	4			c.538T>C						11	SNP	c.(538-540)TTT>CTT	45	45				0	Broad	olfactory receptor, family 8, subfamily G,			124095935		0.428	ENSG00000181214	11044	g.chr11:124095935T>C		integral to membrane	olfactory receptor activity							-185.762251	KEEP	1	10	-1	428	406	1	10	-1	16.303626	428	406	0.013387	1	0	0	0	0	1	0	0	0	--	--		0	C				202	GBM-27-2524-TP	p.F180L	T	GTTGAGACTCTTTTTGTGCAA	NM_001007249	NP_001007250	124095935	Q15614	OR8G2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	538	+	C	C		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	Missense_Mutation	180						
OR8H2	390151	broad.mit.edu	GRCh37	11	55873034	55873034	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0878-01	TCGA-06-0878-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313503.1:c.516C>T	p.Asn172=	p.N172=	ENST00000313503	NM_001005200.1	172	aaC/aaT	0			1			T	N	uc010riy.1	protein_coding	YES	CCDS31518.1			516/939									ovary(1)|skin(1)	2	c.(514-516)AAC>AAT			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF280,Superfamily_domains:SSF81321	olfactory receptor, family 8, subfamily H,				ENSP00000323982		1-Jan	4.13E-05							0.000304	rs763293702,COSM1317299	1-Jan	.		ENST00000313503	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000181767	g.chr11:55873034C>T	15308			LOW								--	--	1				HNSCC(53;0.14)																															0,1	1			p.N172N	NM_001005200	NP_001005200			0,1	OR8H2_HUMAN	OR8H2	HGNC	Q8N162	OR8H2_HUMAN					1	516	+	Esophageal squamous(21;0.00693)		UPI0000041D0C	172			Extracellular (Potential).		SNV	OR8H2,synonymous_variant,p.=,ENST00000313503,NM_001005200.1;	uc010riy.1	c.516C>T	516/939	1	1			c.516C>T						11	SNP	c.(514-516)AAC>AAT	1	1			ovary(1)|skin(1)	2	Broad	olfactory receptor, family 8, subfamily H,			55873034		0.428	ENSG00000181767	11047	g.chr11:55873034C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							422.142949	KEEP	83	82	-1	166	172	83	82	-1	433.946941	166	172	0.328947	1	0	0	0	0	0	0	1	0	--	--	HNSCC(53;0.14)	0	T				74	GBM-06-0878-TP	p.N172N	C	ACGACTCAAACGTAATTCATC	NM_001005200	NP_001005200	55873034	Q8N162	OR8H2_HUMAN	0			1	516	+	T	T	Esophageal squamous(21;0.00693)		Silent	172			Extracellular (Potential).			
OR8H3	0	broad.mit.edu	GRCh37	11	55890211	55890211	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-28-5208-01	TCGA-28-5208-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313472.3:c.363T>G	p.Asp121Glu	p.D121E	ENST00000313472	NM_001005201.1	121	gaT/gaG	0			1			G	D/E	uc001nii.1	protein_coding	YES	CCDS31519.1			363/939									ovary(2)	2	c.(361-363)GAT>GAG			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF280,Superfamily_domains:SSF81321	olfactory receptor, family 8, subfamily H,				ENSP00000323928		1-Jan									COSM3397826	1-Jan	.		ENST00000313472	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000181761	g.chr11:55890211T>G	15309			MODERATE		4.645	high	getma.org/?cm=msa&ty=f&p=OR8H3_HUMAN&rb=1&re=138&var=D121E	getma.org/pdb.php?prot=OR8H3_HUMAN&from=1&to=138&var=D121E	getma.org/?cm=var&var=hg19,11,55890211,T,G&fts=all	D121E	--	--	1																																			1	1		probably_damaging(0.982)	p.D121E	NM_001005201	NP_001005201		deleterious(0)	1	OR8H3_HUMAN	OR8H3	HGNC	Q8N146	OR8H3_HUMAN					1	363	+	Esophageal squamous(21;0.00693)		UPI0000041D25	121			Cytoplasmic (Potential).		SNV	OR8H3,missense_variant,p.Asp121Glu,ENST00000313472,NM_001005201.1;	uc001nii.1	c.363T>G	363/939	3	3			c.363T>G						11	SNP	c.(361-363)GAT>GAG	61	61			ovary(2)	2	Broad	olfactory receptor, family 8, subfamily H,			55890211		0.468	ENSG00000181761	11048	g.chr11:55890211T>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							810.505099	KEEP	117	118	-1	183	196	117	118	-1	814.254092	183	196	0.411335	1	0	0	0	0	1	0	0	0	--	--		0	G				217	GBM-28-5208-TP	p.D121E	T	TGGCCTATGATCGCTATGCAG	NM_001005201	NP_001005201	55890211	Q8N146	OR8H3_HUMAN	0			1	363	+	G	G	Esophageal squamous(21;0.00693)		Missense_Mutation	121			Cytoplasmic (Potential).			
OR8H3	0	broad.mit.edu	GRCh37	11	55890095	55890095	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-32-4210-01	TCGA-32-4210-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313472.3:c.247T>A	p.Leu83Ile	p.L83I	ENST00000313472	NM_001005201.1	83	Tta/Ata	0			1			A	L/I	uc001nii.1	protein_coding	YES	CCDS31519.1			247/939									ovary(2)	2	c.(247-249)TTA>ATA			Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF280,Superfamily_domains:SSF81321	olfactory receptor, family 8, subfamily H,				ENSP00000323928		1-Jan									COSM3397825	1-Jan	.		ENST00000313472	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000181761	g.chr11:55890095T>A	15309			MODERATE		2.36	medium	getma.org/?cm=msa&ty=f&p=OR8H3_HUMAN&rb=1&re=138&var=L83I	getma.org/pdb.php?prot=OR8H3_HUMAN&from=1&to=138&var=L83I	getma.org/?cm=var&var=hg19,11,55890095,T,A&fts=all	L83I	--	--	1																																			1	1		benign(0.242)	p.L83I	NM_001005201	NP_001005201		deleterious(0.03)	1	OR8H3_HUMAN	OR8H3	HGNC	Q8N146	OR8H3_HUMAN					1	247	+	Esophageal squamous(21;0.00693)		UPI0000041D25	83			Extracellular (Potential).		SNV	OR8H3,missense_variant,p.Leu83Ile,ENST00000313472,NM_001005201.1;	uc001nii.1	c.247T>A	247/939	2	2			c.247T>A						11	SNP	c.(247-249)TTA>ATA	48	48			ovary(2)	2	Broad	olfactory receptor, family 8, subfamily H,			55890095		0.438	ENSG00000181761	11048	g.chr11:55890095T>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							711.279262	KEEP	136	156	-1	272	341	136	156	-1	729.27858	272	341	0.33724	1	0	0	0	0	1	0	0	0	--	--		0	A				245	GBM-32-4210-TP	p.L83I	T	ACCTAAAACCTTAGCGAACTT	NM_001005201	NP_001005201	55890095	Q8N146	OR8H3_HUMAN	0			1	247	+	A	A	Esophageal squamous(21;0.00693)		Missense_Mutation	83			Extracellular (Potential).			
OR8I2	0	broad.mit.edu	GRCh37	11	55861592	55861592	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01	TCGA-14-3476-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302124.2:c.809C>T	p.Ala270Val	p.A270V	ENST00000302124	NM_001003750.1	270	gCg/gTg	0			1			T	A/V	uc010rix.1	protein_coding	YES	CCDS31517.1			809/933									breast(1)	1	c.(808-810)GCG>GTG			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF207,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 8, subfamily I,				ENSP00000303864		1-Jan	4.12E-05			0.000578					rs749476782,COSM3397821	1-Jan	common_variant		ENST00000302124	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000172154	g.chr11:55861592C>T	15310			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=OR8I2_HUMAN&rb=139&re=282&var=A270V	NA	getma.org/?cm=var&var=hg19,11,55861592,C,T&fts=all	A270V	--	--	1																																			0,1	1		possibly_damaging(0.767)	p.A270V	NM_001003750	NP_001003750		deleterious(0.02)	0,1	OR8I2_HUMAN	OR8I2	HGNC	Q8N0Y5	OR8I2_HUMAN			H0YLY8_HUMAN		1	809	+	Esophageal squamous(21;0.00693)		UPI0000041D16	270			Extracellular (Potential).		SNV	OR8I2,missense_variant,p.Ala270Val,ENST00000302124,NM_001003750.1;OR8I4P,downstream_gene_variant,,ENST00000526965,;	uc010rix.1	c.809C>T	840/1010	2	2			c.809C>T						11	SNP	c.(808-810)GCG>GTG	30	30			breast(1)	1	Broad	olfactory receptor, family 8, subfamily I,			55861592		0.453	ENSG00000172154	11049	g.chr11:55861592C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							156.715947	KEEP	24	36	-1	56	80	24	36	-1	162.228834	56	80	0.314917	1	0	0	0	0	1	0	0	0	--	--		0	T				151	GBM-14-3476-TP	p.A270V	C	CTGACCCAGGCGCAGGTGGCA	NM_001003750	NP_001003750	55861592	Q8N0Y5	OR8I2_HUMAN	0			1	809	+	T	T	Esophageal squamous(21;0.00693)		Missense_Mutation	270			Extracellular (Potential).			
OR8I2	0	broad.mit.edu	GRCh37	11	55861299	55861299	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-2624-01	TCGA-19-2624-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302124.2:c.516C>A	p.Ser172Arg	p.S172R	ENST00000302124	NM_001003750.1	172	agC/agA	0			1			A	S/R	uc010rix.1	protein_coding	YES	CCDS31517.1			516/933									breast(1)	1	c.(514-516)AGC>AGA			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF207,Superfamily_domains:SSF81321	olfactory receptor, family 8, subfamily I,				ENSP00000303864		1-Jan									COSM2156247	1-Jan	.		ENST00000302124	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000172154	g.chr11:55861299C>A	15310			MODERATE		-1.02	neutral	getma.org/?cm=msa&ty=f&p=OR8I2_HUMAN&rb=139&re=282&var=S172R	NA	getma.org/?cm=var&var=hg19,11,55861299,C,A&fts=all	S172R	--	--	1																																			1	1		benign(0.01)	p.S172R	NM_001003750	NP_001003750		deleterious(0.01)	1	OR8I2_HUMAN	OR8I2	HGNC	Q8N0Y5	OR8I2_HUMAN			H0YLY8_HUMAN		1	516	+	Esophageal squamous(21;0.00693)		UPI0000041D16	172			Extracellular (Potential).		SNV	OR8I2,missense_variant,p.Ser172Arg,ENST00000302124,NM_001003750.1;OR8I4P,downstream_gene_variant,,ENST00000526965,;	uc010rix.1	c.516C>A	547/1010	1	1			c.516C>A						11	SNP	c.(514-516)AGC>AGA	51	51			breast(1)	1	Broad	olfactory receptor, family 8, subfamily I,			55861299		0.448	ENSG00000172154	11049	g.chr11:55861299C>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							287.636105	KEEP	64	37	0.366336634	71	69	64	37	0.366336634	288.976017	71	69	0.41704	1	0	0	0	0	1	0	0	0	--	--		0	A				164	GBM-19-2624-TP	p.S172R	C	GTGATTCCAGCATCAATCATT	NM_001003750	NP_001003750	55861299	Q8N0Y5	OR8I2_HUMAN	0			1	516	+	A	A	Esophageal squamous(21;0.00693)		Missense_Mutation	172			Extracellular (Potential).			
OR8I2	120586		GRCh37	11	55861310	55861310	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000302124.2:c.527T>C	p.Phe176Ser	p.F176S	ENST00000302124	NM_001003750.1	176	tTt/tCt	0																																																																																																																																																																																																																																												
OR8J3	81168	broad.mit.edu	GRCh37	11	55904564	55904564	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0128-01	TCGA-06-0128-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301529.1:c.631A>G	p.Met211Val	p.M211V	ENST00000301529	NM_001004064.1	211	Atg/Gtg	0			1			C	M/V	uc010riz.1	protein_coding	YES	CCDS31520.1			631/948									skin(2)	2	c.(631-633)ATG>GTG			Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF209,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 8, subfamily J,				ENSP00000301529		1-Jan	5.77E-05					0.000105			rs779864478,COSM3397830	1-Jan	.		ENST00000301529	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000167822	g.chr11:55904564T>C	15312			MODERATE		-1.04	neutral	getma.org/?cm=msa&ty=f&p=OR8J3_HUMAN&rb=139&re=283&var=M211V	NA	getma.org/?cm=var&var=hg19,11,55904564,T,C&fts=all	M211V	--	--	1																																			0,1	1		benign(0.004)	p.M211V	NM_001004064	NP_001004064		tolerated(0.11)	0,1	OR8J3_HUMAN	OR8J3	HGNC	Q8NGG0	OR8J3_HUMAN					1	631	-	Esophageal squamous(21;0.00693)		UPI0000061E99	211			Helical; Name=5; (Potential).		SNV	OR8J3,missense_variant,p.Met211Val,ENST00000301529,NM_001004064.1;OR5BN1P,upstream_gene_variant,,ENST00000532955,;	uc010riz.1	c.631A>G	631/948	3	3			c.631A>G						11	SNP	c.(631-633)ATG>GTG	16	16			skin(2)	2	Broad	olfactory receptor, family 8, subfamily J,			55904564		0.358	ENSG00000167822	11051	g.chr11:55904564T>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-27.766506	KEEP	2	3	-1	85	79	2	3	-1	10.446324	85	79	0.031447	1	0	0	0	0	1	0	0	0	--	--		0	C				14	GBM-06-0128-TP	p.M211V	T	ACTGTAATCATGGAAAAAACC	NM_001004064	NP_001004064	55904564	Q8NGG0	OR8J3_HUMAN	0			1	631	-	C	C	Esophageal squamous(21;0.00693)		Missense_Mutation	211			Helical; Name=5; (Potential).			
OR8J3	81168	broad.mit.edu	GRCh37	11	55904831	55904831	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01	TCGA-06-0168-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301529.1:c.364C>T	p.Arg122Cys	p.R122C	ENST00000301529	NM_001004064.1	122	Cgc/Tgc	0	A:0.0007	A:0.0015	1	A:0		A	R/C	uc010riz.1	protein_coding	YES	CCDS31520.1			364/948									skin(2)	2	c.(364-366)CGC>TGC			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF209,Superfamily_domains:SSF81321	olfactory receptor, family 8, subfamily J,		A:0	A:0	ENSP00000301529	A:0	1-Jan	0.000132	0.000961	0.000173			6.00E-05			rs201535279,COSM2150239	1-Jan	common_variant		ENST00000301529	Transcript		A:0.0004	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000167822	g.chr11:55904831G>A	15312			MODERATE		2.335	medium	getma.org/?cm=msa&ty=f&p=OR8J3_HUMAN&rb=1&re=138&var=R122C	getma.org/pdb.php?prot=OR8J3_HUMAN&from=1&to=138&var=R122C	getma.org/?cm=var&var=hg19,11,55904831,G,A&fts=all	R122C	--	--	1																																			0,1	1		possibly_damaging(0.849)	p.R122C	NM_001004064	NP_001004064	A:0	deleterious(0.01)	0,1	OR8J3_HUMAN	OR8J3	HGNC	Q8NGG0	OR8J3_HUMAN					1	364	-	Esophageal squamous(21;0.00693)		UPI0000061E99	122			Cytoplasmic (Potential).		SNV	OR8J3,missense_variant,p.Arg122Cys,ENST00000301529,NM_001004064.1;OR5BN1P,upstream_gene_variant,,ENST00000532955,;	uc010riz.1	c.364C>T	364/948	1	1			c.364C>T						11	SNP	c.(364-366)CGC>TGC	64	64			skin(2)	2	Broad	olfactory receptor, family 8, subfamily J,			55904831		0.502	ENSG00000167822	11051	g.chr11:55904831G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							127.349636	KEEP	33	22	-1	72	65	33	22	-1	135.808029	72	65	0.268571	1	0	0	0	0	1	0	0	0	--	--		0	A				33	GBM-06-0168-TP	p.R122C	G	GCCACATAGCGGTCATAGGCC	NM_001004064	NP_001004064	55904831	Q8NGG0	OR8J3_HUMAN	0			1	364	-	A	A	Esophageal squamous(21;0.00693)		Missense_Mutation	122			Cytoplasmic (Potential).			
OR8J3	81168	broad.mit.edu	GRCh37	11	55904404	55904404	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs143365733	byFrequency	TCGA-06-0882-01	TCGA-06-0882-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301529.1:c.791C>G	p.Thr264Ser	p.T264S	ENST00000301529	NM_001004064.1	264	aCc/aGc	0	A:0		1			C	T/S	uc010riz.1	protein_coding	YES	CCDS31520.1			791/948									skin(2)	2	c.(790-792)ACC>AGC			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF209,Superfamily_domains:SSF81321	olfactory receptor, family 8, subfamily J,			A:0.0008	ENSP00000301529		1-Jan	3.29E-05							0.000242	rs143365733,COSM3397828	1-Jan	.		ENST00000301529	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000167822	g.chr11:55904404G>C	15312			MODERATE		-2.23	neutral	getma.org/?cm=msa&ty=f&p=OR8J3_HUMAN&rb=139&re=283&var=T264S	NA	getma.org/?cm=var&var=hg19,11,55904404,G,C&fts=all	T264S	--	--	1																																			0,1	1		benign(0.032)	p.T264S	NM_001004064	NP_001004064		tolerated(1)	0,1	OR8J3_HUMAN	OR8J3	HGNC	Q8NGG0	OR8J3_HUMAN					1	791	-	Esophageal squamous(21;0.00693)		UPI0000061E99	264			Extracellular (Potential).		SNV	OR8J3,missense_variant,p.Thr264Ser,ENST00000301529,NM_001004064.1;OR5BN1P,upstream_gene_variant,,ENST00000532955,;	uc010riz.1	c.791C>G	791/948	3	3			c.791C>G						11	SNP	c.(790-792)ACC>AGC	57	57			skin(2)	2	Broad	olfactory receptor, family 8, subfamily J,			55904404		0.428	ENSG00000167822	11051	g.chr11:55904404G>C	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-35.02306	KEEP	1	2	-1	84	97	1	2	-1	6.372438	84	97	0.018868	1	0	0	0	0	1	0	0	0	--	--		0	C				77	GBM-06-0882-TP	p.T264S	G	TGAGTGGTTGGTTTGGGGCTG	NM_001004064	NP_001004064	55904404	Q8NGG0	OR8J3_HUMAN	0			1	791	-	C	C	Esophageal squamous(21;0.00693)		Missense_Mutation	264			Extracellular (Potential).			
OR8J3	0	broad.mit.edu	GRCh37	11	55904448	55904448	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0787-01	TCGA-14-0787-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301529.1:c.747G>A	p.Thr249=	p.T249=	ENST00000301529	NM_001004064.1	249	acG/acA	0		T:0.0008	1	T:0		T	T	uc010riz.1	protein_coding	YES	CCDS31520.1			747/948									skin(2)	2	c.(745-747)ACG>ACA			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF209,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 8, subfamily J,		T:0		ENSP00000301529	T:0	1-Jan									rs529152876,COSM3397829	1-Jan	.		ENST00000301529	Transcript		T:0.0002	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000167822	g.chr11:55904448C>T	15312			LOW								--	--	1																																			0,1	1			p.T249T	NM_001004064	NP_001004064	T:0		0,1	OR8J3_HUMAN	OR8J3	HGNC	Q8NGG0	OR8J3_HUMAN					1	747	-	Esophageal squamous(21;0.00693)		UPI0000061E99	249			Helical; Name=6; (Potential).		SNV	OR8J3,synonymous_variant,p.=,ENST00000301529,NM_001004064.1;OR5BN1P,upstream_gene_variant,,ENST00000532955,;	uc010riz.1	c.747G>A	747/948	2	2			c.747G>A						11	SNP	c.(745-747)ACG>ACA	18	18			skin(2)	2	Broad	olfactory receptor, family 8, subfamily J,			55904448		0.398	ENSG00000167822	11051	g.chr11:55904448C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							146.300335	KEEP	29	20	-1	46	34	29	20	-1	147.797829	46	34	0.382114	1	0	0	0	0	0	0	1	0	--	--		0	T				135	GBM-14-0787-TP	p.T249T	C	CATAGAAAACCGTGACTGCTA	NM_001004064	NP_001004064	55904448	Q8NGG0	OR8J3_HUMAN	0			1	747	-	T	T	Esophageal squamous(21;0.00693)		Silent	249			Helical; Name=6; (Potential).			
OR8K3	219473	broad.mit.edu	GRCh37	11	56086620	56086620	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0749-01	TCGA-06-0749-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312711.1:c.838G>T	p.Val280Phe	p.V280F	ENST00000312711	NM_001005202.1	280	Gtt/Ttt	0			1			T	V/F	uc010rjf.1	protein_coding	YES	CCDS31527.1			838/939									ovary(2)|large_intestine(1)|central_nervous_system(1)	4	c.(838-840)GTT>TTT			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF161,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 8, subfamily K,				ENSP00000323555		1-Jan									COSM2151922	1-Jan	.		ENST00000312711	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000181689	g.chr11:56086620G>T	15313			MODERATE		2.415	medium	getma.org/?cm=msa&ty=f&p=OR8K3_HUMAN&rb=139&re=282&var=V280F	NA	getma.org/?cm=var&var=hg19,11,56086620,G,T&fts=all	V280F	--	--	1																																			1	1		possibly_damaging(0.695)	p.V280F	NM_001005202	NP_001005202		deleterious_low_confidence(0.02)	1	OR8K3_HUMAN	OR8K3	HGNC	Q8NH51	OR8K3_HUMAN					1	838	+	Esophageal squamous(21;0.00448)		UPI0000041BE7	280			Helical; Name=7; (Potential).		SNV	OR8K3,missense_variant,p.Val280Phe,ENST00000312711,NM_001005202.1;	uc010rjf.1	c.838G>T	838/939	2	2			c.838G>T						11	SNP	c.(838-840)GTT>TTT	33	33			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Broad	olfactory receptor, family 8, subfamily K,			56086620		0.378	ENSG00000181689	11053	g.chr11:56086620G>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							52.129656	KEEP	15	6	0.714285714	43	29	15	6	0.714285714	57.803584	43	29	0.235955	1	0	0	0	0	1	0	0	0	--	--		0	T				69	GBM-06-0749-TP	p.V280F	G	TTACACCCTGGTTATCCCCAT	NM_001005202	NP_001005202	56086620	Q8NH51	OR8K3_HUMAN	0			1	838	+	T	T	Esophageal squamous(21;0.00448)		Missense_Mutation	280			Helical; Name=7; (Potential).			
OR8K3	0	broad.mit.edu	GRCh37	11	56086025	56086025	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01	TCGA-12-1597-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312711.1:c.243G>A	p.Met81Ile	p.M81I	ENST00000312711	NM_001005202.1	81	atG/atA	0			1			A	M/I	uc010rjf.1	protein_coding	YES	CCDS31527.1			243/939									ovary(2)|large_intestine(1)|central_nervous_system(1)	4	c.(241-243)ATG>ATA			PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF161,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 8, subfamily K,				ENSP00000323555		1-Jan									COSM3397838	1-Jan	.		ENST00000312711	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000181689	g.chr11:56086025G>A	15313			MODERATE		2.225	medium	getma.org/?cm=msa&ty=f&p=OR8K3_HUMAN&rb=1&re=138&var=M81I	getma.org/pdb.php?prot=OR8K3_HUMAN&from=1&to=138&var=M81I	getma.org/?cm=var&var=hg19,11,56086025,G,A&fts=all	M81I	--	--	1																																			1	1		benign(0.213)	p.M81I	NM_001005202	NP_001005202		deleterious_low_confidence(0.02)	1	OR8K3_HUMAN	OR8K3	HGNC	Q8NH51	OR8K3_HUMAN					1	243	+	Esophageal squamous(21;0.00448)		UPI0000041BE7	81			Extracellular (Potential).		SNV	OR8K3,missense_variant,p.Met81Ile,ENST00000312711,NM_001005202.1;	uc010rjf.1	c.243G>A	243/939	2	2			c.243G>A						11	SNP	c.(241-243)ATG>ATA	24	24			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Broad	olfactory receptor, family 8, subfamily K,			56086025		0.353	ENSG00000181689	11053	g.chr11:56086025G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							103.864944	KEEP	29	20	-1	97	82	29	20	-1	120.569413	97	82	0.215247	1	0	0	0	0	1	0	0	0	--	--		0	A				124	GBM-12-1597-TP	p.M81I	G	GACCCAAAATGTTAGTAAATT	NM_001005202	NP_001005202	56086025	Q8NH51	OR8K3_HUMAN	0			1	243	+	A	A	Esophageal squamous(21;0.00448)		Missense_Mutation	81			Extracellular (Potential).			
OR8K3	0	broad.mit.edu	GRCh37	11	56086192	56086192	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5952-01	TCGA-19-5952-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312711.1:c.410C>T	p.Ser137Leu	p.S137L	ENST00000312711	NM_001005202.1	137	tCa/tTa	0			1			T	S/L	uc010rjf.1	protein_coding	YES	CCDS31527.1			410/939									ovary(2)|large_intestine(1)|central_nervous_system(1)	4	c.(409-411)TCA>TTA			PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF161,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245	olfactory receptor, family 8, subfamily K,				ENSP00000323555		1-Jan	8.24E-06					1.50E-05			rs749710771,COSM2156697	1-Jan	.		ENST00000312711	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000181689	g.chr11:56086192C>T	15313			MODERATE		3.48	medium	getma.org/?cm=msa&ty=f&p=OR8K3_HUMAN&rb=1&re=138&var=S137L	NA	getma.org/?cm=var&var=hg19,11,56086192,C,T&fts=all	S137L	--	--	1																																			0,1	1		possibly_damaging(0.886)	p.S137L	NM_001005202	NP_001005202		deleterious_low_confidence(0.01)	0,1	OR8K3_HUMAN	OR8K3	HGNC	Q8NH51	OR8K3_HUMAN					1	410	+	Esophageal squamous(21;0.00448)		UPI0000041BE7	137			Cytoplasmic (Potential).		SNV	OR8K3,missense_variant,p.Ser137Leu,ENST00000312711,NM_001005202.1;	uc010rjf.1	c.410C>T	410/939	2	2			c.410C>T						11	SNP	c.(409-411)TCA>TTA	24	24			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Broad	olfactory receptor, family 8, subfamily K,			56086192		0.413	ENSG00000181689	11053	g.chr11:56086192C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							153.394952	KEEP	24	32	-1	36	60	24	32	-1	154.978357	36	60	0.383459	1	0	0	0	0	1	0	0	0	--	--		0	T				172	GBM-19-5952-TP	p.S137L	C	GTAATCATGTCACGAAGGGTA	NM_001005202	NP_001005202	56086192	Q8NH51	OR8K3_HUMAN	0			1	410	+	T	T	Esophageal squamous(21;0.00448)		Missense_Mutation	137			Cytoplasmic (Potential).			
OR8K3	0	broad.mit.edu	GRCh37	11	56085869	56085869	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-26-5134-01	TCGA-26-5134-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312711.1:c.87A>G	p.Ala29=	p.A29=	ENST00000312711	NM_001005202.1	29	gcA/gcG	0			1			G	A	uc010rjf.1	protein_coding	YES	CCDS31527.1			87/939									ovary(2)|large_intestine(1)|central_nervous_system(1)	4	c.(85-87)GCA>GCG			Transmembrane_helices:TMhelix,hmmpanther:PTHR26452:SF161,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 8, subfamily K,				ENSP00000323555		1-Jan									COSM3397837	1-Jan	.		ENST00000312711	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000181689	g.chr11:56085869A>G	15313			LOW								--	--	1																																			1	1			p.A29A	NM_001005202	NP_001005202			1	OR8K3_HUMAN	OR8K3	HGNC	Q8NH51	OR8K3_HUMAN					1	87	+	Esophageal squamous(21;0.00448)		UPI0000041BE7	29			Helical; Name=1; (Potential).		SNV	OR8K3,synonymous_variant,p.=,ENST00000312711,NM_001005202.1;	uc010rjf.1	c.87A>G	87/939	3	3			c.87A>G						11	SNP	c.(85-87)GCA>GCG	64	64			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Broad	olfactory receptor, family 8, subfamily K,			56085869		0.433	ENSG00000181689	11053	g.chr11:56085869A>G	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-62.607027	KEEP	3	3	-1	146	143	3	3	-1	10.833679	146	143	0.020979	1	0	0	0	0	0	0	1	0	--	--		0	G				183	GBM-26-5134-TP	p.A29A	A	CATTATTTGCATTGTTCCTCA	NM_001005202	NP_001005202	56085869	Q8NH51	OR8K3_HUMAN	0			1	87	+	G	G	Esophageal squamous(21;0.00448)		Silent	29			Helical; Name=1; (Potential).			
OR8K3	0	broad.mit.edu	GRCh37	11	56085805	56085805	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-6173-01	TCGA-26-6173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312711.1:c.23C>T	p.Thr8Met	p.T8M	ENST00000312711	NM_001005202.1	8	aCg/aTg	0			1			T	T/M	uc010rjf.1	protein_coding	YES	CCDS31527.1			23/939									ovary(2)|large_intestine(1)|central_nervous_system(1)	4	c.(22-24)ACG>ATG			hmmpanther:PTHR26452:SF161,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 8, subfamily K,				ENSP00000323555		1-Jan	2.47E-05				0.000151	1.51E-05		6.22E-05	rs766060464,COSM3397836	1-Jan	.		ENST00000312711	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000181689	g.chr11:56085805C>T	15313			MODERATE		0.425	neutral	getma.org/?cm=msa&ty=f&p=OR8K3_HUMAN&rb=1&re=138&var=T8M	NA	getma.org/?cm=var&var=hg19,11,56085805,C,T&fts=all	T8M	--	--	1																																			0,1	1		benign(0.009)	p.T8M	NM_001005202	NP_001005202		tolerated_low_confidence(0.17)	0,1	OR8K3_HUMAN	OR8K3	HGNC	Q8NH51	OR8K3_HUMAN					1	23	+	Esophageal squamous(21;0.00448)		UPI0000041BE7	8			Extracellular (Potential).		SNV	OR8K3,missense_variant,p.Thr8Met,ENST00000312711,NM_001005202.1;	uc010rjf.1	c.23C>T	23/939	2	2			c.23C>T						11	SNP	c.(22-24)ACG>ATG	48	48			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Broad	olfactory receptor, family 8, subfamily K,			56085805		0.413	ENSG00000181689	11053	g.chr11:56085805C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							90.981153	KEEP	20	19	-1	43	38	20	19	-1	94.082818	43	38	0.321101	1	0	0	0	0	1	0	0	0	--	--		0	T				187	GBM-26-6173-TP	p.T8M	C	AATCTAACAACGGTGAATGAA	NM_001005202	NP_001005202	56085805	Q8NH51	OR8K3_HUMAN	0			1	23	+	T	T	Esophageal squamous(21;0.00448)		Missense_Mutation	8			Extracellular (Potential).			
OR8K3	0	broad.mit.edu	GRCh37	11	56086116	56086116	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-76-4925-01	TCGA-76-4925-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312711.1:c.334delC	p.Leu112PhefsTer23	p.L112Ffs*23	ENST00000312711	NM_001005202.1	112	Ctt/tt	0			1			-	L/X	uc010rjf.1	protein_coding	YES	CCDS31527.1			334/939									ovary(2)|large_intestine(1)|central_nervous_system(1)	4	c.(334-336)CTTfs			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF161,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	olfactory receptor, family 8, subfamily K,				ENSP00000323555		1-Jan									rs773811085,COSM2157486	1-Jan	.		ENST00000312711	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000181689	g.chr11:56086116delC	15313			HIGH								--	--	1																																			0,1	1			p.L112fs	NM_001005202	NP_001005202			0,1	OR8K3_HUMAN	OR8K3	HGNC	Q8NH51	OR8K3_HUMAN					1	334	+	Esophageal squamous(21;0.00448)		UPI0000041BE7	112			Helical; Name=3; (Potential).		deletion	OR8K3,frameshift_variant,p.Leu112PhefsTer23,ENST00000312711,NM_001005202.1;	uc010rjf.1	c.334delC	334/939	5	5			c.334delC						11	DEL	c.(334-336)CTTfs	4	4			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Broad	olfactory receptor, family 8, subfamily K,			56086116		0.378	ENSG00000181689	11053	g.chr11:56086116delC	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity																				0.42	1	1	0	1	0	0	0	0	0	--	--		0	-				265	GBM-76-4925-TP	p.L112fs	C	TGGTAGTGAACTTTTTATTCT	NM_001005202	NP_001005202	56086116	Q8NH51	OR8K3_HUMAN	0			1	334	+	-	-	Esophageal squamous(21;0.00448)		Frame_Shift_Del	112			Helical; Name=3; (Potential).			
OR8K3	0	broad.mit.edu	GRCh37	11	56085826	56085826	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149952066		TCGA-76-6282-01	TCGA-76-6282-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312711.1:c.44C>T	p.Thr15Met	p.T15M	ENST00000312711	NM_001005202.1	15	aCg/aTg	0	T:0		1			T	T/M	uc010rjf.1	protein_coding	YES	CCDS31527.1			44/939									ovary(2)|large_intestine(1)|central_nervous_system(1)	4	c.(43-45)ACG>ATG			hmmpanther:PTHR26452:SF161,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	olfactory receptor, family 8, subfamily K,			T:0.0002	ENSP00000323555		1-Jan	7.41E-05	9.61E-05	8.66E-05			9.01E-05		6.07E-05	rs149952066,COSM1171808	1-Jan	.		ENST00000312711	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000181689	g.chr11:56085826C>T	15313			MODERATE		-0.41	neutral	getma.org/?cm=msa&ty=f&p=OR8K3_HUMAN&rb=1&re=138&var=T15M	NA	getma.org/?cm=var&var=hg19,11,56085826,C,T&fts=all	T15M	--	--	1																																			0,1	1		benign(0.004)	p.T15M	NM_001005202	NP_001005202		tolerated_low_confidence(1)	0,1	OR8K3_HUMAN	OR8K3	HGNC	Q8NH51	OR8K3_HUMAN					1	44	+	Esophageal squamous(21;0.00448)		UPI0000041BE7	15			Extracellular (Potential).		SNV	OR8K3,missense_variant,p.Thr15Met,ENST00000312711,NM_001005202.1;	uc010rjf.1	c.44C>T	44/939	2	2			c.44C>T						11	SNP	c.(43-45)ACG>ATG	18	18			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Broad	olfactory receptor, family 8, subfamily K,			56085826		0.423	ENSG00000181689	11053	g.chr11:56085826C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							62.414701	KEEP	12	19	-1	45	58	12	19	-1	70.243507	45	58	0.230769	1	0	0	0	0	1	0	0	0	--	--		0	T				278	GBM-76-6282-TP	p.T15M	C	TTCATTCTTACGGGAATCACA	NM_001005202	NP_001005202	56085826	Q8NH51	OR8K3_HUMAN	0			1	44	+	T	T	Esophageal squamous(21;0.00448)		Missense_Mutation	15			Extracellular (Potential).			
OR8K3	219473		GRCh37	11	56086106	56086106	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000312711.1:c.324T>G	p.Ile108Met	p.I108M	ENST00000312711	NM_001005202.1	108	atT/atG	0																																																																																																																																																																																																																																												
OR8S1	0	broad.mit.edu	GRCh37	12	48919470	48919470	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01	TCGA-28-5216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310194.1:c.56C>T	p.Ala19Val	p.A19V	ENST00000310194	NM_001005203.2	19	gCc/gTc	0			1			T	A/V	uc010slu.1	protein_coding	YES	CCDS31789.1			56/1080									skin(1)	1	c.(55-57)GCC>GTC			Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF239,Superfamily_domains:SSF81321	olfactory receptor, family 8, subfamily S,				ENSP00000310632		2-Jan									COSM3398749	2-Jan	.		ENST00000310194	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000197376	g.chr12:48919470C>T	19628			MODERATE		0.675	neutral	getma.org/?cm=msa&ty=f&p=OR8S1_HUMAN&rb=1&re=138&var=A19V	getma.org/pdb.php?prot=OR8S1_HUMAN&from=1&to=138&var=A19V	getma.org/?cm=var&var=hg19,12,48919470,C,T&fts=all	A19V	--	--	1																																			1	1		benign(0.022)	p.A19V	NM_001005203	NP_001005203		tolerated(0.09)	1	OR8S1_HUMAN	OR8S1	HGNC	Q8NH09	OR8S1_HUMAN					1	56	+			UPI000013EFC1	19			Extracellular (Potential).		SNV	OR8S1,missense_variant,p.Ala19Val,ENST00000310194,NM_001005203.2;OR8S1,intron_variant,,ENST00000551654,;	uc010slu.1	c.56C>T	56/1080	2	2			c.56C>T						12	SNP	c.(55-57)GCC>GTC	20	20			skin(1)	1	Broad	olfactory receptor, family 8, subfamily S,			48919470		0.512	ENSG00000197376	11055	g.chr12:48919470C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-66.474848	KEEP	1	4	-1	153	138	1	4	-1	6.935034	153	138	0.017857	1	0	0	0	0	1	0	0	0	--	--		0	T				223	GBM-28-5216-TP	p.A19V	C	GGGCTGTCTGCCGACCCCAAC	NM_001005203	NP_001005203	48919470	Q8NH09	OR8S1_HUMAN	0			1	56	+	T	T			Missense_Mutation	19			Extracellular (Potential).			
OR9A4	0	broad.mit.edu	GRCh37	7	141619469	141619469	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1980-01	TCGA-32-1980-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000548136.1:c.794C>T	p.Thr265Met	p.T265M	ENST00000548136	NM_001001656.1	265	aCg/aTg	0			1			T	T/M	uc003vwu.1	protein_coding	YES	CCDS43661.1			794/945									skin(1)	1	c.(793-795)ACG>ATG			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF216,Superfamily_domains:SSF81321	olfactory receptor, family 9, subfamily A,				ENSP00000448789		1-Jan									COSM3411670	1-Jan	.		ENST00000548136	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000258083	g.chr7:141619469C>T	15095			MODERATE		2.2	medium	getma.org/?cm=msa&ty=f&p=OR9A4_HUMAN&rb=139&re=283&var=T265M	NA	getma.org/?cm=var&var=hg19,7,141619469,C,T&fts=all	T265M	--	--	1																																			1	1		possibly_damaging(0.532)	p.T265M	NM_001001656	NP_001001656		tolerated(0.06)	1	OR9A4_HUMAN	OR9A4	HGNC	Q8NGU2	OR9A4_HUMAN					1	794	+	Melanoma(164;0.0171)		UPI0000041D24	265			Extracellular (Potential).		SNV	OR9A4,missense_variant,p.Thr265Met,ENST00000548136,NM_001001656.1;MGAM,intron_variant,,ENST00000465654,;MGAM,intron_variant,,ENST00000497554,;	uc003vwu.1	c.794C>T	853/1093	1	1			c.794C>T						7	SNP	c.(793-795)ACG>ATG	11	11			skin(1)	1	Broad	olfactory receptor, family 9, subfamily A,			141619469		0.478	ENSG00000258083	11059	g.chr7:141619469C>T	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							6.05068	KEEP	1	4	-1	14	22	1	4	-1	11.543707	14	22	0.125	1	0	0	0	0	1	0	0	0	--	--		0	T				231	GBM-32-1980-TP	p.T265M	C	CCCAAGCAAACGCAGGCAGCT	NM_001001656	NP_001001656	141619469	Q8NGU2	OR9A4_HUMAN	0			1	794	+	T	T	Melanoma(164;0.0171)		Missense_Mutation	265			Extracellular (Potential).			
OR9G1	390174	broad.mit.edu	GRCh37	11	56468297	56468297	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0192-01	TCGA-06-0192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312153.1:c.434C>A	p.Ala145Glu	p.A145E	ENST00000312153	NM_001005213.1	145	gCa/gAa	0			1			A	A/E	uc010rjn.1	protein_coding	YES	CCDS31536.1			434/918										0	c.(433-435)GCA>GAA			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF158,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 9, subfamily G,				ENSP00000309012		1-Jan									COSM3397861	1-Jan	.		ENST00000312153	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000174914	g.chr11:56468297C>A	15319			MODERATE		3.36	medium	getma.org/?cm=msa&ty=f&p=OR9G1_HUMAN&rb=138&re=282&var=A145E	NA	getma.org/?cm=var&var=hg19,11,56468297,C,A&fts=all	A145E	--	--	1																																			1	1		possibly_damaging(0.786)	p.A145E	NM_001013358	NP_001013376		deleterious(0)	1	OR9G1_HUMAN	OR9G1	HGNC	P0C7N8	OR9G9_HUMAN					1	434	+			UPI0000061E7E	145			Helical; Name=4; (Potential).		SNV	OR9G1,missense_variant,p.Ala145Glu,ENST00000312153,NM_001005213.1;	uc010rjn.1	c.434C>A	434/918	1	1			c.434C>A						11	SNP	c.(433-435)GCA>GAA	56	56				0	Broad	olfactory receptor, family 9, subfamily G,			56468297		0.463	ENSG00000174914	11062	g.chr11:56468297C>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							58.900591	KEEP	22	28	0.56	202	155	22	28	0.56	108.623991	202	155	0.124654	1	0	0	0	0	1	0	0	0	--	--		0	A				44	GBM-06-0192-TP	p.A145E	C	TTGCTGGTAGCAGTCTCATAT	NM_001013358	NP_001013376	56468297	P0C7N8	OR9G9_HUMAN	0			1	434	+	A	A			Missense_Mutation	145			Helical; Name=4; (Potential).			
OR9G1	390174	broad.mit.edu	GRCh37	11	56467865	56467865	+	start_lost	Translation_Start_Site	SNP	T	T	A			TCGA-06-0210-01	TCGA-06-0210-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312153.1:c.2T>A	p.Met1?	p.M1?	ENST00000312153	NM_001005213.1	1	aTg/aAg	0			1			A	M/K	uc010rjn.1	protein_coding	YES	CCDS31536.1			2/918										0	c.(1-3)ATG>AAG			hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF158,Superfamily_domains:SSF81321	olfactory receptor, family 9, subfamily G,				ENSP00000309012		1-Jan									COSM3397859	1-Jan	.		ENST00000312153	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000174914	g.chr11:56467865T>A	15319			HIGH		0	NA	http://getma.org/?cm=msa&ty=f&p=OR9G1_HUMAN&rb=1&re=137&var=M1K	NA	getma.org/?cm=var&var=hg19,11,56467865,T,A&fts=all	M1K	--	--	1																																			1	1		probably_damaging(0.963)	p.M1K	NM_001013358	NP_001013376		deleterious(0)	1	OR9G1_HUMAN	OR9G1	HGNC	P0C7N8	OR9G9_HUMAN					1	2	+			UPI0000061E7E	1			Extracellular (Potential).		SNV	OR9G1,start_lost,p.Met1?,ENST00000312153,NM_001005213.1;	uc010rjn.1	c.2T>A	2/918	2	2			c.2T>A						11	SNP	c.(1-3)ATG>AAG	20	20				0	Broad	olfactory receptor, family 9, subfamily G,			56467865		0.453	ENSG00000174914	11062	g.chr11:56467865T>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							-9.467878	KEEP	6	5	-1	50	41	6	5	-1	7.465723	50	41	0.050633	1	0	0	0	0	1	0	0	0	--	--		0	A				47	GBM-06-0210-TP	p.M1K	T	CTTACAGCCATGCAGAGGAGC	NM_001013358	NP_001013376	56467865	P0C7N8	OR9G9_HUMAN	0			1	2	+	A	A			Missense_Mutation	1			Extracellular (Potential).			
OR9G1	0	broad.mit.edu	GRCh37	11	56467944	56467944	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-12-3652-01	TCGA-12-3652-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312153.1:c.81delC	p.Phe27LeufsTer13	p.F27Lfs*13	ENST00000312153	NM_001005213.1	27	ttC/tt	0			1			-	F/X	uc010rjn.1	protein_coding	YES	CCDS31536.1			81/918										0	c.(79-81)TTCfs			Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF158,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 9, subfamily G,				ENSP00000309012		1-Jan										1-Jan	.		ENST00000312153	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000174914	g.chr11:56467944delC	15319			HIGH								--	--	1																																				1			p.F27fs	NM_001013358	NP_001013376				OR9G1_HUMAN	OR9G1	HGNC	P0C7N8	OR9G9_HUMAN					1	81	+			UPI0000061E7E	27			Extracellular (Potential).		deletion	OR9G1,frameshift_variant,p.Phe27LeufsTer13,ENST00000312153,NM_001005213.1;	uc010rjn.1	c.81delC	81/918	5	5			c.81delC						11	DEL	c.(79-81)TTCfs	14	14				0	Broad	olfactory receptor, family 9, subfamily G,			56467944		0.502	ENSG00000174914	11062	g.chr11:56467944delC	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity																				0.21	1	1	0	1	0	0	0	0	0	--	--		0	-				127	GBM-12-3652-TP	p.F27fs	C	TGGGCCTCTTCGTGGTGTTCC	NM_001013358	NP_001013376	56467944	P0C7N8	OR9G9_HUMAN	0			1	81	+	-	-			Frame_Shift_Del	27			Extracellular (Potential).			
OR9G4	283189	broad.mit.edu	GRCh37	11	56510792	56510792	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0154-01	TCGA-06-0154-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302957.3:c.496G>T	p.Gly166Ter	p.G166*	ENST00000302957	NM_001005284.1	166	Gga/Tga	0			1			A	G/*	uc010rjo.1	protein_coding	YES	CCDS31537.1			496/984									ovary(2)|skin(1)	3	c.(496-498)GGA>TGA			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF141,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 9, subfamily G,				ENSP00000307515		1-Jan									COSM2149908	1-Jan	.		ENST00000302957	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000172457	g.chr11:56510792C>A	15322			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,11,56510792,C,A&fts=all	G166*	--	--	1																																			1	1			p.G166*	NM_001005284	NP_001005284			1	OR9G4_HUMAN	OR9G4	HGNC	Q8NGQ1	OR9G4_HUMAN					1	496	-			UPI00001D77DB	166			Helical; Name=4; (Potential).		SNV	OR9G4,stop_gained,p.Gly166Ter,ENST00000302957,NM_001005284.1;OR9G3P,downstream_gene_variant,,ENST00000525553,;OR9G3P,downstream_gene_variant,,ENST00000327003,;	uc010rjo.1	c.496G>T	496/985	5	2			c.496G>T						11	SNP	c.(496-498)GGA>TGA	17	17			ovary(2)|skin(1)	3	Broad	olfactory receptor, family 9, subfamily G,			56510792		0.453	ENSG00000172457	11061	g.chr11:56510792C>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							127.888208	KEEP	28	25	0.471698113	66	44	28	25	0.471698113	132.750072	66	44	0.308725	1	0	0	0	0	0	1	0	0	--	--		0	A				26	GBM-06-0154-TP	p.G166*	C	AAAAATCCTCCTATGTAGGAG	NM_001005284	NP_001005284	56510792	Q8NGQ1	OR9G4_HUMAN	0			1	496	-	A	A			Nonsense_Mutation	166			Helical; Name=4; (Potential).			
OR9G4	0	broad.mit.edu	GRCh37	11	56510803	56510803	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-27-2526-01	TCGA-27-2526-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302957.3:c.485G>T	p.Gly162Val	p.G162V	ENST00000302957	NM_001005284.1	162	gGc/gTc	0			1			A	G/V	uc010rjo.1	protein_coding	YES	CCDS31537.1			485/984									ovary(2)|skin(1)	3	c.(484-486)GGC>GTC			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF141,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	olfactory receptor, family 9, subfamily G,				ENSP00000307515		1-Jan									COSM3397862	1-Jan	.		ENST00000302957	Transcript			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000172457	g.chr11:56510803C>A	15322			MODERATE		1.65	low	getma.org/?cm=msa&ty=f&p=OR9G4_HUMAN&rb=154&re=298&var=G162V	NA	getma.org/?cm=var&var=hg19,11,56510803,C,A&fts=all	G162V	--	--	1																																			1	1		probably_damaging(0.911)	p.G162V	NM_001005284	NP_001005284		tolerated(0.06)	1	OR9G4_HUMAN	OR9G4	HGNC	Q8NGQ1	OR9G4_HUMAN					1	485	-			UPI00001D77DB	162			Helical; Name=4; (Potential).		SNV	OR9G4,missense_variant,p.Gly162Val,ENST00000302957,NM_001005284.1;OR9G3P,downstream_gene_variant,,ENST00000525553,;OR9G3P,downstream_gene_variant,,ENST00000327003,;	uc010rjo.1	c.485G>T	485/985	1	1			c.485G>T						11	SNP	c.(484-486)GGC>GTC	57	57			ovary(2)|skin(1)	3	Broad	olfactory receptor, family 9, subfamily G,			56510803		0.463	ENSG00000172457	11061	g.chr11:56510803C>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							160.00055	KEEP	33	30	0.476190476	41	76	33	30	0.476190476	162.986582	41	76	0.355828	1	0	0	0	0	1	0	0	0	--	--		0	A				203	GBM-27-2526-TP	p.G162V	C	TATGTAGGAGCCAGCAACAAG	NM_001005284	NP_001005284	56510803	Q8NGQ1	OR9G4_HUMAN	0			1	485	-	A	A			Missense_Mutation	162			Helical; Name=4; (Potential).			
ORAI1	0	broad.mit.edu	GRCh37	12	122079191	122079191	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01	TCGA-14-0813-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330079.7:c.554G>A	p.Gly185Asp	p.G185D	ENST00000330079	NM_032790.3	185	gGc/gAc	0			1			A	G/D	uc010szz.1	protein_coding	YES	CCDS41851.1			554/912										0	c.(547-549)GGC>GAC			Transmembrane_helices:TMhelix,hmmpanther:PTHR31501,hmmpanther:PTHR31501:SF3,Pfam_domain:PF07856	calcium release-activated calcium channel				ENSP00000328216		2-Feb									COSM3398453	2-Feb	.		ENST00000330079	Transcript	1		platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity	ENSG00000182500	g.chr12:122079191G>A	25896			MODERATE		2.755	medium	getma.org/?cm=msa&ty=f&p=CRCM1_HUMAN&rb=67&re=270&var=G183D	NA	getma.org/?cm=var&var=hg19,12,122079191,G,A&fts=all	G183D	--	--	1																																			1	1		probably_damaging(1)	p.G183D	NM_032790	NP_116179		deleterious(0)	1	CRCM1_HUMAN	ORAI1	HGNC	Q96D31	CRCM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)	F5GWZ3_HUMAN		3	741	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		UPI00001FB4EF	183			Helical; (Potential).		SNV	ORAI1,missense_variant,p.Gly185Asp,ENST00000330079,NM_032790.3;ORAI1,missense_variant,p.Gly80Asp,ENST00000537188,;	uc010szz.1	c.548G>A	747/2139	2	2			c.548G>A						12	SNP	c.(547-549)GGC>GAC	47	47				0	Broad	calcium release-activated calcium channel			122079191		0.637	ENSG00000182500	11067	g.chr12:122079191G>A	platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity							-14.883162	KEEP	2	2	-1	63	52	2	2	-1	7.640565	63	52	0.040404	1	0	0	0	0	1	0	0	0	--	--		0	A				138	GBM-14-0813-TP	p.G183D	G	ACCGTCATCGGCACGCTGCTC	NM_032790	NP_116179	122079191	Q96D31	CRCM1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)	3	741	+	A	A	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		Missense_Mutation	183			Helical; (Potential).			
ORAI2	0	broad.mit.edu	GRCh37	7	102086975	102086975	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01	TCGA-12-0618-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356387.2:c.241G>A	p.Val81Met	p.V81M	ENST00000356387	NM_001271818.1	81	Gtg/Atg	0			1			A	V/M	uc010lhz.1	protein_coding	YES	CCDS5722.1			241/765									ovary(1)|kidney(1)	2	c.(241-243)GTG>ATG			Pfam_domain:PF07856,hmmpanther:PTHR31501,hmmpanther:PTHR31501:SF5,Transmembrane_helices:TMhelix	ORAI calcium release-activated calcium modulator				ENSP00000348752		4-Apr									COSM2153620	4-Apr	.		ENST00000356387	Transcript				integral to membrane	protein binding	ENSG00000160991	g.chr7:102086975G>A	21667			MODERATE		2.455	medium	getma.org/?cm=msa&ty=f&p=ORAI2_HUMAN&rb=41&re=231&var=V81M	NA	getma.org/?cm=var&var=hg19,7,102086975,G,A&fts=all	V81M	--	--	1																																		ORAI2_uc003uzj.2_Missense_Mutation_p.V81M|ORAI2_uc003uzk.2_Missense_Mutation_p.V81M|ORAI2_uc011kks.1_Missense_Mutation_p.V4M	1	1		probably_damaging(0.998)	p.V81M	NM_001126340	NP_001119812		deleterious(0.02)	1	ORAI2_HUMAN	ORAI2	HGNC	Q96SN7	ORAI2_HUMAN			C9JUY6_HUMAN,C9JQR7_HUMAN,C9J5L2_HUMAN,C9J2H9_HUMAN,B4DUB4_HUMAN		4	476	+			UPI0000070E55	81			Helical; (Potential).		SNV	ORAI2,missense_variant,p.Val81Met,ENST00000356387,NM_001271818.1,NM_001126340.2,NM_001271819.1,NM_032831.3;ORAI2,missense_variant,p.Val81Met,ENST00000478730,;ORAI2,missense_variant,p.Val81Met,ENST00000403646,;ORAI2,missense_variant,p.Val81Met,ENST00000473939,;ORAI2,missense_variant,p.Val81Met,ENST00000495936,;ORAI2,missense_variant,p.Val81Met,ENST00000468241,;ORAI2,missense_variant,p.Val81Met,ENST00000498661,;ORAI2,non_coding_transcript_exon_variant,,ENST00000488996,;	uc010lhz.1	c.241G>A	476/10769	1	1			c.241G>A						7	SNP	c.(241-243)GTG>ATG	56	56			ovary(1)|kidney(1)	2	Broad	ORAI calcium release-activated calcium modulator			102086975		0.677	ENSG00000160991	11068	g.chr7:102086975G>A		integral to membrane	protein binding							48.229839	KEEP	10	21	-1	34	35	10	21	-1	50.519379	34	35	0.295082	1	0	0	0	0	1	0	0	0	--	--		0	A			ORAI2_uc003uzj.2_Missense_Mutation_p.V81M|ORAI2_uc003uzk.2_Missense_Mutation_p.V81M|ORAI2_uc011kks.1_Missense_Mutation_p.V4M	119	GBM-12-0618-TP	p.V81M	G	CATGGTGGAGGTGCAGCTGGA	NM_001126340	NP_001119812	102086975	Q96SN7	ORAI2_HUMAN	0			4	476	+	A	A			Missense_Mutation	81			Helical; (Potential).			
ORAI3	93129	broad.mit.edu	GRCh37	16	30960835	30960835	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2567-01	TCGA-06-2567-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318663.4:c.225C>T	p.Ala75=	p.A75=	ENST00000318663	NM_152288.2	75	gcC/gcT	0			1			T	A	uc002eac.2	protein_coding	YES	CCDS10697.1			225/888										0	c.(223-225)GCC>GCT			Pfam_domain:PF07856,hmmpanther:PTHR31501,hmmpanther:PTHR31501:SF6	ORAI calcium release-activated calcium modulator				ENSP00000322249		2-Jan									COSM3402284	2-Jan	.		ENST00000318663	Transcript				integral to membrane	protein binding	ENSG00000175938	g.chr16:30960835C>T	28185			LOW								--	--	1																																			1	1			p.A75A	NM_152288	NP_689501			1	ORAI3_HUMAN	ORAI3	HGNC	Q9BRQ5	ORAI3_HUMAN					1	431	+			UPI00000735E7	75			Helical; (Potential).		SNV	ORAI3,synonymous_variant,p.=,ENST00000318663,NM_152288.2;ORAI3,synonymous_variant,p.=,ENST00000566237,;ORAI3,synonymous_variant,p.=,ENST00000562699,;FBXL19,downstream_gene_variant,,ENST00000338343,;FBXL19,downstream_gene_variant,,ENST00000380310,NM_001099784.2,NM_001271651.1;FBXL19,downstream_gene_variant,,ENST00000471231,NM_001282351.1;FBXL19,downstream_gene_variant,,ENST00000427128,;FBXL19,downstream_gene_variant,,ENST00000565690,;FBXL19,downstream_gene_variant,,ENST00000562319,;FBXL19,downstream_gene_variant,,ENST00000565939,;FBXL19,downstream_gene_variant,,ENST00000566320,;AC135048.13,intron_variant,,ENST00000566056,;AC135048.13,intron_variant,,ENST00000562642,;ORAI3,synonymous_variant,p.=,ENST00000563161,;	uc002eac.2	c.225C>T	449/2206	1	1			c.225C>T						16	SNP	c.(223-225)GCC>GCT	6	6				0	Broad	ORAI calcium release-activated calcium modulator			30960835		0.692	ENSG00000175938	11069	g.chr16:30960835C>T		integral to membrane	protein binding							15.644442	KEEP	3	4	-1	4	9	3	4	-1	15.864482	4	9	0.375	1	0	0	0	0	0	0	1	0	--	--		0	T				89	GBM-06-2567-TP	p.A75A	C	CGGGCTTCGCCATGGTGAGGG	NM_152288	NP_689501	30960835	Q9BRQ5	ORAI3_HUMAN	0			1	431	+	T	T			Silent	75			Helical; (Potential).			
ORM2	5005	broad.mit.edu	GRCh37	9	117092750	117092750	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-0126-01	TCGA-06-0126-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000431067.2:c.151C>A	p.Arg51=	p.R51=	ENST00000431067	NM_000608.2	51	Cga/Aga	0			1			A	R	uc004bil.2	protein_coding	YES	CCDS6804.1			151/606										0	c.(151-153)CGA>AGA			Gene3D:2.40.128.20,Pfam_domain:PF00061,PIRSF_domain:PIRSF036899,Prints_domain:PR00708,hmmpanther:PTHR11967,hmmpanther:PTHR11967:SF2,Superfamily_domains:SSF50814	orosomucoid 2 precursor				ENSP00000394936		6-Feb									COSM2149436,COSM3413292	6-Feb	.		ENST00000431067	Transcript			acute-phase response|regulation of immune system process|transport	extracellular space	binding	ENSG00000228278	g.chr9:117092750C>A	8499			LOW								--	--	1																																		ORM1_uc011lxo.1_Intron	1,1	1			p.R51R	NM_000608	NP_000599			1,1	A1AG2_HUMAN	ORM2	HGNC	P19652	A1AG2_HUMAN					2	267	+		Myeloproliferative disorder(63;0.163)	UPI0000052DC9	51					SNV	ORM2,stop_gained,p.Ser189Ter,ENST00000412657,;ORM2,synonymous_variant,p.=,ENST00000431067,NM_000608.2;AKNA,downstream_gene_variant,,ENST00000307564,NM_030767.4;AKNA,downstream_gene_variant,,ENST00000374079,;ORM1,downstream_gene_variant,,ENST00000259396,NM_000607.2;	uc004bil.2	c.151C>A	187/760	2	2			c.151C>A						9	SNP	c.(151-153)CGA>AGA	45	45				0	Broad	orosomucoid 2 precursor			117092750		0.438	ENSG00000228278	11078	g.chr9:117092750C>A	acute-phase response|regulation of immune system process|transport	extracellular space	binding	NSCLC(65;867 1308 1814 2391 12508)			NSCLC(65;867 1308 1814 2391 12508)			66.20242	KEEP	15	11	0.423076923	18	15	15	11	0.423076923	66.255249	18	15	0.540541	1	0	0	0	0	0	0	1	0	--	--		0	A			ORM1_uc011lxo.1_Intron	13	GBM-06-0126-TP	p.R51R	C	ATCGGCCTTTCGAAACGAGGA	NM_000608	NP_000599	117092750	P19652	A1AG2_HUMAN	0			2	267	+	A	A		Myeloproliferative disorder(63;0.163)	Silent	51						
OS9	0	broad.mit.edu	GRCh37	12	58112083	58112083	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315970.7:c.1289G>A	p.Arg430Gln	p.R430Q	ENST00000315970	NM_006812.3	430	cGg/cAg	0			1			A	R/Q	uc001spj.2	protein_coding	YES	CCDS31843.1			1289/2004									ovary(1)	1	c.(1288-1290)CGG>CAG			hmmpanther:PTHR15414,hmmpanther:PTHR15414:SF1	osteosarcoma amplified 9, endoplasmic reticulum				ENSP00000318165		15-Nov	2.47E-05					4.50E-05			rs193011962,COSM942180	15-Nov	.		ENST00000315970	Transcript			ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding	ENSG00000135506	g.chr12:58112083G>A	16994			MODERATE		-0.145	neutral	getma.org/?cm=msa&ty=f&p=OS9_HUMAN&rb=261&re=484&var=R430Q	NA	getma.org/?cm=var&var=hg19,12,58112083,G,A&fts=all	R430Q	--	--	1																																		OS9_uc010srx.1_Missense_Mutation_p.R224Q|OS9_uc001spk.2_Missense_Mutation_p.R430Q|OS9_uc001spl.2_Missense_Mutation_p.R430Q|OS9_uc001spm.2_Missense_Mutation_p.R430Q|OS9_uc001spn.2_Missense_Mutation_p.R431Q|OS9_uc010sry.1_Missense_Mutation_p.R398Q|OS9_uc010srz.1_Missense_Mutation_p.R371Q	0,1	1		benign(0.001)	p.R430Q	NM_006812	NP_006803		tolerated(0.67)	0,1	OS9_HUMAN	OS9	HGNC	Q13438	OS9_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		Q9BR60_HUMAN		11	1348	+	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		UPI0000130EAC	430					SNV	OS9,missense_variant,p.Arg430Gln,ENST00000315970,NM_006812.3,NM_001017958.2;OS9,missense_variant,p.Arg431Gln,ENST00000257966,NM_001261420.1,NM_001017956.2;OS9,missense_variant,p.Arg430Gln,ENST00000389142,NM_001017957.2;OS9,missense_variant,p.Arg378Gln,ENST00000435406,NM_001261422.1;OS9,missense_variant,p.Arg398Gln,ENST00000551035,NM_001261421.1;OS9,missense_variant,p.Arg430Gln,ENST00000552285,;OS9,missense_variant,p.Arg430Gln,ENST00000389146,;OS9,missense_variant,p.Arg371Gln,ENST00000439210,NM_001261423.1;OS9,missense_variant,p.Arg224Gln,ENST00000413095,;OS9,intron_variant,,ENST00000547079,;OS9,downstream_gene_variant,,ENST00000550372,;RP11-571M6.7,intron_variant,,ENST00000549477,;OS9,non_coding_transcript_exon_variant,,ENST00000549307,;OS9,non_coding_transcript_exon_variant,,ENST00000550202,;OS9,upstream_gene_variant,,ENST00000546916,;OS9,downstream_gene_variant,,ENST00000553208,;OS9,downstream_gene_variant,,ENST00000552787,;OS9,downstream_gene_variant,,ENST00000550438,;OS9,downstream_gene_variant,,ENST00000550699,;	uc001spj.2	c.1289G>A	1330/2691	1	1			c.1289G>A						12	SNP	c.(1288-1290)CGG>CAG	64	64			ovary(1)	1	Broad	osteosarcoma amplified 9, endoplasmic reticulum			58112083		0.413	ENSG00000135506	11082	g.chr12:58112083G>A	ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding							-19.862104	KEEP	1	2	-1	65	55	1	2	-1	6.394725	65	55	0.028037	1	0	0	0	0	1	0	0	0	--	--		0	A			OS9_uc010srx.1_Missense_Mutation_p.R224Q|OS9_uc001spk.2_Missense_Mutation_p.R430Q|OS9_uc001spl.2_Missense_Mutation_p.R430Q|OS9_uc001spm.2_Missense_Mutation_p.R430Q|OS9_uc001spn.2_Missense_Mutation_p.R431Q|OS9_uc010sry.1_Missense_Mutation_p.R398Q|OS9_uc010srz.1_Missense_Mutation_p.R371Q	160	GBM-19-1790-TP	p.R430Q	G	gaggatgaACGGCAGTTACTG	NM_006812	NP_006803	58112083	Q13438	OS9_HUMAN	0	BRCA - Breast invasive adenocarcinoma(9;0.109)		11	1348	+	A	A	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		Missense_Mutation	430						
OS9	0	broad.mit.edu	GRCh37	12	58109576	58109576	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01	TCGA-41-5651-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315970.7:c.613G>A	p.Asp205Asn	p.D205N	ENST00000315970	NM_006812.3	205	Gac/Aac	0			1			A	D/N	uc001spj.2	protein_coding	YES	CCDS31843.1			613/2004									ovary(1)	1	c.(613-615)GAC>AAC			hmmpanther:PTHR15414,hmmpanther:PTHR15414:SF1,Gene3D:2.70.130.10,Superfamily_domains:SSF50911	osteosarcoma amplified 9, endoplasmic reticulum				ENSP00000318165		15-Jun									COSM3398942	15-Jun	.		ENST00000315970	Transcript			ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding	ENSG00000135506	g.chr12:58109576G>A	16994			MODERATE		1.33	low	getma.org/?cm=msa&ty=f&p=OS9_HUMAN&rb=182&re=260&var=D205N	getma.org/pdb.php?prot=OS9_HUMAN&from=182&to=260&var=D205N	getma.org/?cm=var&var=hg19,12,58109576,G,A&fts=all	D205N	--	--	1																																		OS9_uc010srx.1_Intron|OS9_uc001spk.2_Missense_Mutation_p.D205N|OS9_uc001spl.2_Missense_Mutation_p.D205N|OS9_uc001spm.2_Missense_Mutation_p.D205N|OS9_uc001spn.2_Missense_Mutation_p.D205N|OS9_uc010sry.1_Missense_Mutation_p.D172N|OS9_uc010srz.1_Missense_Mutation_p.D146N	1	1		possibly_damaging(0.789)	p.D205N	NM_006812	NP_006803		deleterious(0)	1	OS9_HUMAN	OS9	HGNC	Q13438	OS9_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		Q9BR60_HUMAN		6	672	+	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		UPI0000130EAC	205					SNV	OS9,missense_variant,p.Asp205Asn,ENST00000315970,NM_006812.3,NM_001017958.2;OS9,missense_variant,p.Asp205Asn,ENST00000257966,NM_001261420.1,NM_001017956.2;OS9,missense_variant,p.Asp205Asn,ENST00000389142,NM_001017957.2;OS9,missense_variant,p.Asp153Asn,ENST00000435406,NM_001261422.1;OS9,missense_variant,p.Asp172Asn,ENST00000551035,NM_001261421.1;OS9,missense_variant,p.Asp205Asn,ENST00000552285,;OS9,missense_variant,p.Asp205Asn,ENST00000389146,;OS9,missense_variant,p.Asp146Asn,ENST00000439210,NM_001261423.1;OS9,missense_variant,p.Asp145Asn,ENST00000550372,;OS9,intron_variant,,ENST00000413095,;OS9,intron_variant,,ENST00000547079,;RP11-571M6.7,intron_variant,,ENST00000549477,;OS9,3_prime_UTR_variant,,ENST00000552787,;OS9,non_coding_transcript_exon_variant,,ENST00000549307,;OS9,non_coding_transcript_exon_variant,,ENST00000553208,;OS9,non_coding_transcript_exon_variant,,ENST00000550438,;OS9,upstream_gene_variant,,ENST00000546916,;OS9,upstream_gene_variant,,ENST00000550202,;OS9,upstream_gene_variant,,ENST00000550699,;	uc001spj.2	c.613G>A	654/2691	1	1			c.613G>A						12	SNP	c.(613-615)GAC>AAC	60	60			ovary(1)	1	Broad	osteosarcoma amplified 9, endoplasmic reticulum			58109576		0.517	ENSG00000135506	11082	g.chr12:58109576G>A	ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding							-44.147849	KEEP	19	22	-1	305	367	19	22	-1	80.291537	305	367	0.063694	1	0	0	0	0	1	0	0	0	--	--		0	A			OS9_uc010srx.1_Intron|OS9_uc001spk.2_Missense_Mutation_p.D205N|OS9_uc001spl.2_Missense_Mutation_p.D205N|OS9_uc001spm.2_Missense_Mutation_p.D205N|OS9_uc001spn.2_Missense_Mutation_p.D205N|OS9_uc010sry.1_Missense_Mutation_p.D172N|OS9_uc010srz.1_Missense_Mutation_p.D146N	258	GBM-41-5651-TP	p.D205N	G	TATCTCTGGGGACTACATCGA	NM_006812	NP_006803	58109576	Q13438	OS9_HUMAN	0	BRCA - Breast invasive adenocarcinoma(9;0.109)		6	672	+	A	A	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		Missense_Mutation	205						
OSBP	0	broad.mit.edu	GRCh37	11	59376014	59376014	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0871-01	TCGA-14-0871-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263847.1:c.765C>T	p.Ile255=	p.I255=	ENST00000263847	NM_002556.2	255	atC/atT	0			1			A	I	uc001noc.1	protein_coding	YES	CCDS7974.1			765/2424									large_intestine(1)	1	c.(763-765)ATC>ATT			hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF52	oxysterol binding protein				ENSP00000263847		14-Mar									COSM3397927	14-Mar	.		ENST00000263847	Transcript			lipid transport	Golgi membrane	oxysterol binding	ENSG00000110048	g.chr11:59376014G>A	8503			LOW								--	--	1																																			1	1			p.I255I	NM_002556	NP_002547			1	OSBP1_HUMAN	OSBP	HGNC	P22059	OSBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	B4DR25_HUMAN		3	1245	-		all_epithelial(135;0.000236)	UPI0000130EAF	255					SNV	OSBP,synonymous_variant,p.=,ENST00000263847,NM_002556.2;	uc001noc.1	c.765C>T	1245/5083	1	1			c.765C>T						11	SNP	c.(763-765)ATC>ATT	55	55			large_intestine(1)	1	Broad	oxysterol binding protein			59376014		0.478	ENSG00000110048	11083	g.chr11:59376014G>A	lipid transport	Golgi membrane	oxysterol binding							187.802739	KEEP	46	25	-1	106	83	46	25	-1	199.71216	106	83	0.274131	1	0	0	0	0	0	0	1	0	--	--		0	A				141	GBM-14-0871-TP	p.I255I	G	TGACCTGTTTGATCTTTTCAT	NM_002556	NP_002547	59376014	P22059	OSBP1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	3	1245	-	A	A		all_epithelial(135;0.000236)	Silent	255						
OSBP	0	broad.mit.edu	GRCh37	11	59368009	59368009	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-4932-01	TCGA-76-4932-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263847.1:c.1271A>G	p.Lys424Arg	p.K424R	ENST00000263847	NM_002556.2	424	aAg/aGg	0			1			C	K/R	uc001noc.1	protein_coding	YES	CCDS7974.1			1271/2424									large_intestine(1)	1	c.(1270-1272)AAG>AGG			hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF52,Pfam_domain:PF01237,Superfamily_domains:0051579	oxysterol binding protein				ENSP00000263847		14-Jul									COSM3397926	14-Jul	.		ENST00000263847	Transcript			lipid transport	Golgi membrane	oxysterol binding	ENSG00000110048	g.chr11:59368009T>C	8503			MODERATE		1.64	low	getma.org/?cm=msa&ty=f&p=OSBP1_HUMAN&rb=418&re=794&var=K424R	NA	getma.org/?cm=var&var=hg19,11,59368009,T,C&fts=all	K424R	2.25	medium	1																																		OSBP_uc009ymr.1_RNA	1	1		probably_damaging(0.989)	p.K424R	NM_002556	NP_002547		deleterious(0.04)	1	OSBP1_HUMAN	OSBP	HGNC	P22059	OSBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	B4DR25_HUMAN		7	1751	-		all_epithelial(135;0.000236)	UPI0000130EAF	424			Sterol binding (By similarity).		SNV	OSBP,missense_variant,p.Lys424Arg,ENST00000263847,NM_002556.2;OSBP,missense_variant,p.Lys44Arg,ENST00000525357,;OSBP,non_coding_transcript_exon_variant,,ENST00000528903,;	uc001noc.1	c.1271A>G	1751/5083	3	3			c.1271A>G						11	SNP	c.(1270-1272)AAG>AGG	50	50			large_intestine(1)	1	Broad	oxysterol binding protein			59368009		0.468	ENSG00000110048	11083	g.chr11:59368009T>C	lipid transport	Golgi membrane	oxysterol binding							420.020096	KEEP	60	70	-1	77	95	60	70	-1	421.034073	77	95	0.43346	1	0	0	0	0	1	0	0	0	2.25	medium		0	C			OSBP_uc009ymr.1_RNA	271	GBM-76-4932-TP	p.K424R	T	AATGCAGTTCTTCATGATGCT	NM_002556	NP_002547	59368009	P22059	OSBP1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	7	1751	-	C	C		all_epithelial(135;0.000236)	Missense_Mutation	424			Sterol binding (By similarity).			
OSBP2	23762	broad.mit.edu	GRCh37	22	31137177	31137177	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01	TCGA-06-0214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332585.6:c.674G>A	p.Arg225His	p.R225H	ENST00000332585	NM_030758.3	225	cGt/cAt	0			1			A	R/H	uc003aiy.1	protein_coding	YES	CCDS43002.1			674/2751									breast(1)|skin(1)	2	c.(673-675)CGT>CAT			PROSITE_profiles:PS50003,hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF51,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	oxysterol binding protein 2 isoform a				ENSP00000332576		14-Feb	8.27E-06			0.000116					rs747111711,COSM3405593,COSM3405594,COSM3405595	14-Feb	.		ENST00000332585	Transcript			lipid transport	membrane	lipid binding	ENSG00000184792	g.chr22:31137177G>A	8504			MODERATE		2.855	medium	getma.org/?cm=msa&ty=f&p=OSBP2_HUMAN&rb=184&re=274&var=R225H	getma.org/pdb.php?prot=OSBP2_HUMAN&from=184&to=274&var=R225H	getma.org/?cm=var&var=hg19,22,31137177,G,A&fts=all	R225H	--	--	1																																		OSBP2_uc011ala.1_Missense_Mutation_p.R60H|OSBP2_uc010gwc.1_Missense_Mutation_p.R52H|OSBP2_uc003aix.1_Missense_Mutation_p.R225H|OSBP2_uc011alb.1_Missense_Mutation_p.R225H|OSBP2_uc003aiz.1_Missense_Mutation_p.R225H	0,1,1,1	1		probably_damaging(1)	p.R225H	NM_030758	NP_110385		deleterious(0)	0,1,1,1	OSBP2_HUMAN	OSBP2	HGNC	Q969R2	OSBP2_HUMAN			C9JS84_HUMAN,C9J7J0_HUMAN		2	778	+			UPI0000161E15	225			PH.		SNV	OSBP2,missense_variant,p.Arg225His,ENST00000332585,NM_030758.3;OSBP2,missense_variant,p.Arg52His,ENST00000407373,;OSBP2,missense_variant,p.Arg225His,ENST00000382310,;OSBP2,missense_variant,p.Arg225His,ENST00000446658,NM_001282739.1;OSBP2,missense_variant,p.Arg60His,ENST00000403222,NM_001282738.1;OSBP2,missense_variant,p.Arg60His,ENST00000438716,;	uc003aiy.1	c.674G>A	778/4340	2	2			c.674G>A						22	SNP	c.(673-675)CGT>CAT	43	43			breast(1)|skin(1)	2	Broad	oxysterol binding protein 2 isoform a			31137177		0.542	ENSG00000184792	11084	g.chr22:31137177G>A	lipid transport	membrane	lipid binding							18.40739	KEEP	9	7	-1	38	63	9	7	-1	31.012514	38	63	0.134021	1	0	0	0	0	1	0	0	0	--	--		0	A			OSBP2_uc011ala.1_Missense_Mutation_p.R60H|OSBP2_uc010gwc.1_Missense_Mutation_p.R52H|OSBP2_uc003aix.1_Missense_Mutation_p.R225H|OSBP2_uc011alb.1_Missense_Mutation_p.R225H|OSBP2_uc003aiz.1_Missense_Mutation_p.R225H	50	GBM-06-0214-TP	p.R225H	G	CACACGTGCCGTGGAACCATC	NM_030758	NP_110385	31137177	Q969R2	OSBP2_HUMAN	0			2	778	+	A	A			Missense_Mutation	225			PH.			
OSBP2	0	broad.mit.edu	GRCh37	22	31137202	31137202	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2629-01	TCGA-19-2629-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332585.6:c.699G>A	p.Ala233=	p.A233=	ENST00000332585	NM_030758.3	233	gcG/gcA	0			1			A	A	uc003aiy.1	protein_coding	YES	CCDS43002.1			699/2751									breast(1)|skin(1)	2	c.(697-699)GCG>GCA			PROSITE_profiles:PS50003,hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF51,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	oxysterol binding protein 2 isoform a				ENSP00000332576		14-Feb									COSM3405596,COSM3405597,COSM3405598	14-Feb	.		ENST00000332585	Transcript			lipid transport	membrane	lipid binding	ENSG00000184792	g.chr22:31137202G>A	8504			LOW								--	--	1																																		OSBP2_uc011ala.1_Silent_p.A68A|OSBP2_uc010gwc.1_Silent_p.A60A|OSBP2_uc003aix.1_Silent_p.A233A|OSBP2_uc011alb.1_Silent_p.A233A|OSBP2_uc003aiz.1_Silent_p.A233A	1,1,1	1			p.A233A	NM_030758	NP_110385			1,1,1	OSBP2_HUMAN	OSBP2	HGNC	Q969R2	OSBP2_HUMAN			C9JS84_HUMAN,C9J7J0_HUMAN		2	803	+			UPI0000161E15	233			PH.		SNV	OSBP2,synonymous_variant,p.=,ENST00000332585,NM_030758.3;OSBP2,synonymous_variant,p.=,ENST00000407373,;OSBP2,synonymous_variant,p.=,ENST00000382310,;OSBP2,synonymous_variant,p.=,ENST00000446658,NM_001282739.1;OSBP2,synonymous_variant,p.=,ENST00000403222,NM_001282738.1;OSBP2,synonymous_variant,p.=,ENST00000438716,;	uc003aiy.1	c.699G>A	803/4340	2	2			c.699G>A						22	SNP	c.(697-699)GCG>GCA	37	37			breast(1)|skin(1)	2	Broad	oxysterol binding protein 2 isoform a			31137202		0.557	ENSG00000184792	11084	g.chr22:31137202G>A	lipid transport	membrane	lipid binding							5.407579	KEEP	2	4	-1	17	41	2	4	-1	14.235992	17	41	0.105263	1	0	0	0	0	0	0	1	0	--	--		0	A			OSBP2_uc011ala.1_Silent_p.A68A|OSBP2_uc010gwc.1_Silent_p.A60A|OSBP2_uc003aix.1_Silent_p.A233A|OSBP2_uc011alb.1_Silent_p.A233A|OSBP2_uc003aiz.1_Silent_p.A233A	166	GBM-19-2629-TP	p.A233A	G	TGTCCACCGCGCACATTGACA	NM_030758	NP_110385	31137202	Q969R2	OSBP2_HUMAN	0			2	803	+	A	A			Silent	233			PH.			
OSBP2	0	broad.mit.edu	GRCh37	22	31137264	31137264	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-32-2491-01	TCGA-32-2491-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332585.6:c.761T>G	p.Leu254Arg	p.L254R	ENST00000332585	NM_030758.3	254	cTc/cGc	0			1			G	L/R	uc003aiy.1	protein_coding	YES	CCDS43002.1			761/2751									breast(1)|skin(1)	2	c.(760-762)CTC>CGC			PROSITE_profiles:PS50003,hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF51,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	oxysterol binding protein 2 isoform a				ENSP00000332576		14-Feb									COSM3405599,COSM3405600,COSM3405601	14-Feb	.		ENST00000332585	Transcript			lipid transport	membrane	lipid binding	ENSG00000184792	g.chr22:31137264T>G	8504			MODERATE		4.445	high	getma.org/?cm=msa&ty=f&p=OSBP2_HUMAN&rb=184&re=274&var=L254R	getma.org/pdb.php?prot=OSBP2_HUMAN&from=184&to=274&var=L254R	getma.org/?cm=var&var=hg19,22,31137264,T,G&fts=all	L254R	--	--	1																																		OSBP2_uc011ala.1_Missense_Mutation_p.L89R|OSBP2_uc010gwc.1_Missense_Mutation_p.L81R|OSBP2_uc003aix.1_Missense_Mutation_p.L254R|OSBP2_uc011alb.1_Missense_Mutation_p.L254R|OSBP2_uc003aiz.1_Missense_Mutation_p.L254R	1,1,1	1		probably_damaging(1)	p.L254R	NM_030758	NP_110385		deleterious(0)	1,1,1	OSBP2_HUMAN	OSBP2	HGNC	Q969R2	OSBP2_HUMAN			C9JS84_HUMAN,C9J7J0_HUMAN		2	865	+			UPI0000161E15	254			PH.		SNV	OSBP2,missense_variant,p.Leu254Arg,ENST00000332585,NM_030758.3;OSBP2,missense_variant,p.Leu81Arg,ENST00000407373,;OSBP2,missense_variant,p.Leu254Arg,ENST00000382310,;OSBP2,missense_variant,p.Leu254Arg,ENST00000446658,NM_001282739.1;OSBP2,missense_variant,p.Leu89Arg,ENST00000403222,NM_001282738.1;OSBP2,missense_variant,p.Leu89Arg,ENST00000438716,;	uc003aiy.1	c.761T>G	865/4340	3	3			c.761T>G						22	SNP	c.(760-762)CTC>CGC	4	4			breast(1)|skin(1)	2	Broad	oxysterol binding protein 2 isoform a			31137264		0.612	ENSG00000184792	11084	g.chr22:31137264T>G	lipid transport	membrane	lipid binding							-1.279483	KEEP	3	0	-1	14	24	3	0	-1	6.475758	14	24	0.054054	1	0	0	0	0	1	0	0	0	--	--		0	G			OSBP2_uc011ala.1_Missense_Mutation_p.L89R|OSBP2_uc010gwc.1_Missense_Mutation_p.L81R|OSBP2_uc003aix.1_Missense_Mutation_p.L254R|OSBP2_uc011alb.1_Missense_Mutation_p.L254R|OSBP2_uc003aiz.1_Missense_Mutation_p.L254R	235	GBM-32-2491-TP	p.L254R	T	AGCTACCACCTCAAGGCCAGC	NM_030758	NP_110385	31137264	Q969R2	OSBP2_HUMAN	0			2	865	+	G	G			Missense_Mutation	254			PH.			
OSBPL10	0	broad.mit.edu	GRCh37	3	31921180	31921180	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-41-2573-01	TCGA-41-2573-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396556.2:c.424T>C	p.Tyr142His	p.Y142H	ENST00000396556	NM_017784.4	142	Tac/Cac	0			1			G	Y/H	uc003cev.2	protein_coding	YES	CCDS2651.1			424/2295									skin(1)	1	c.(424-426)TAC>CAC			Gene3D:2.30.29.30,Pfam_domain:PF15409,PROSITE_profiles:PS50003,hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF47,SMART_domains:SM00233,Superfamily_domains:SSF50729	oxysterol-binding protein-like protein 10				ENSP00000379804		12-Feb									COSM3408590,COSM3408591	12-Feb	.		ENST00000396556	Transcript			lipid transport		lipid binding	ENSG00000144645	g.chr3:31921180A>G	16395			MODERATE		0.385	neutral	getma.org/?cm=msa&ty=f&p=OSB10_HUMAN&rb=75&re=171&var=Y142H	getma.org/pdb.php?prot=OSB10_HUMAN&from=75&to=171&var=Y142H	getma.org/?cm=var&var=hg19,3,31921180,A,G&fts=all	Y142H	--	--	1																																		OSBPL10_uc011axf.1_Missense_Mutation_p.Y142H	1,1	1		benign(0.039)	p.Y142H	NM_017784	NP_060254		tolerated(0.2)	1,1	OSB10_HUMAN	OSBPL10	HGNC	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)			3	805	-			UPI0000130E9B	142			PH.		SNV	OSBPL10,missense_variant,p.Tyr142His,ENST00000396556,NM_017784.4;OSBPL10,missense_variant,p.Tyr142His,ENST00000438237,NM_001174060.1;OSBPL10,non_coding_transcript_exon_variant,,ENST00000466604,;OSBPL10,non_coding_transcript_exon_variant,,ENST00000467955,;OSBPL10,non_coding_transcript_exon_variant,,ENST00000479173,;OSBPL10,non_coding_transcript_exon_variant,,ENST00000463504,;OSBPL10,non_coding_transcript_exon_variant,,ENST00000480671,;OSBPL10,intron_variant,,ENST00000485205,;OSBPL10,intron_variant,,ENST00000452791,;OSBPL10,non_coding_transcript_exon_variant,,ENST00000465626,;	uc003cev.2	c.424T>C	547/6600	4	4			c.424T>C						3	SNP	c.(424-426)TAC>CAC	17	17			skin(1)	1	Broad	oxysterol-binding protein-like protein 10			31921180		0.483	ENSG00000144645	11085	g.chr3:31921180A>G	lipid transport		lipid binding							-23.881725	KEEP	0	3	-1	74	64	0	3	-1	7.008548	74	64	0.02439	1	0	0	0	0	1	0	0	0	--	--		0	G			OSBPL10_uc011axf.1_Missense_Mutation_p.Y142H	252	GBM-41-2573-TP	p.Y142H	A	TTAGCAGAGTACACCACCAGC	NM_017784	NP_060254	31921180	Q9BXB5	OSB10_HUMAN	0		STAD - Stomach adenocarcinoma(1;0.00406)	3	805	-	G	G			Missense_Mutation	142			PH.			
OSBPL2	9885	broad.mit.edu	GRCh37	20	60831247	60831247	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01	TCGA-06-5859-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313733.3:c.7G>A	p.Gly3Arg	p.G3R	ENST00000313733	NM_144498.2	3	Gga/Aga	0			1			A	G/R	uc002yck.1	protein_coding	YES	CCDS13495.1			7/1443									ovary(1)|central_nervous_system(1)	2	c.(7-9)GGA>AGA			hmmpanther:PTHR10972:SF54,hmmpanther:PTHR10972	oxysterol-binding protein-like protein 2 isoform				ENSP00000316649		14-Feb	4.12E-05			0.000116		4.50E-05		6.06E-05	rs746311450,COSM2153383	14-Feb	.		ENST00000313733	Transcript	1		lipid transport		lipid binding	ENSG00000130703	g.chr20:60831247G>A	15761			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=OSBL2_HUMAN&rb=1&re=74&var=G3R	NA	getma.org/?cm=var&var=hg19,20,60831247,G,A&fts=all	G3R	--	--	1																																		OSBPL2_uc002ycl.1_Missense_Mutation_p.G3R|OSBPL2_uc011aah.1_5'UTR	0,1	1		benign(0.361)	p.G3R	NM_144498	NP_653081		deleterious_low_confidence(0.04)	0,1	OSBL2_HUMAN	OSBPL2	HGNC	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		H0Y7X4_HUMAN		2	209	+	Breast(26;7.76e-09)		UPI0000130E96	3					SNV	OSBPL2,missense_variant,p.Gly3Arg,ENST00000313733,NM_144498.2;OSBPL2,missense_variant,p.Gly3Arg,ENST00000358053,NM_014835.3;OSBPL2,5_prime_UTR_variant,,ENST00000439951,NM_001278649.1;	uc002yck.1	c.7G>A	209/3970	1	1			c.7G>A						20	SNP	c.(7-9)GGA>AGA	59	59			ovary(1)|central_nervous_system(1)	2	Broad	oxysterol-binding protein-like protein 2 isoform			60831247		0.483	ENSG00000130703	11088	g.chr20:60831247G>A	lipid transport		lipid binding							69.798292	KEEP	18	8	-1	25	22	18	8	-1	70.81062	25	22	0.365079	1	0	0	0	0	1	0	0	0	--	--		0	A			OSBPL2_uc002ycl.1_Missense_Mutation_p.G3R|OSBPL2_uc011aah.1_5'UTR	103	GBM-06-5859-TP	p.G3R	G	AAGGATGAACGGAGAGGAAGA	NM_144498	NP_653081	60831247	Q9H1P3	OSBL2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		2	209	+	A	A	Breast(26;7.76e-09)		Missense_Mutation	3						
OSBPL3	0	broad.mit.edu	GRCh37	7	24874215	24874215	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01	TCGA-12-0618-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313367.2:c.1636C>T	p.Pro546Ser	p.P546S	ENST00000313367	NM_015550.2	546	Ccg/Tcg	0			1			A	P/S	uc003sxf.2	protein_coding	YES	CCDS5390.1			1636/2664									skin(1)	1	c.(1636-1638)CCG>TCG			Superfamily_domains:0051579,Pfam_domain:PF01237,hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF15	oxysterol-binding protein-like protein 3 isoform				ENSP00000315410		15/23									COSM3411949	15/23	.		ENST00000313367	Transcript			lipid transport		lipid binding|protein binding	ENSG00000070882	g.chr7:24874215G>A	16370			MODERATE		4.255	high	getma.org/?cm=msa&ty=f&p=OSBL3_HUMAN&rb=527&re=872&var=P546S	NA	getma.org/?cm=var&var=hg19,7,24874215,G,A&fts=all	P546S	--	--	1																																		OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Missense_Mutation_p.P510S|OSBPL3_uc003sxh.2_Missense_Mutation_p.P515S|OSBPL3_uc003sxi.2_Missense_Mutation_p.P479S|OSBPL3_uc003sxj.1_Missense_Mutation_p.P275S|OSBPL3_uc003sxk.1_Missense_Mutation_p.P244S	1	1		probably_damaging(1)	p.P546S	NM_015550	NP_056365		deleterious(0.03)	1	OSBL3_HUMAN	OSBPL3	HGNC	Q9H4L5	OSBL3_HUMAN			C9JZ19_HUMAN,C9JEF2_HUMAN,C9J8P4_HUMAN		15	2041	-			UPI0000001244	546					SNV	OSBPL3,missense_variant,p.Pro546Ser,ENST00000313367,NM_015550.2;OSBPL3,missense_variant,p.Pro515Ser,ENST00000352860,NM_145320.1;OSBPL3,missense_variant,p.Pro510Ser,ENST00000353930,NM_145321.1;OSBPL3,missense_variant,p.Pro479Ser,ENST00000431825,NM_145322.1;OSBPL3,missense_variant,p.Pro515Ser,ENST00000396431,;OSBPL3,missense_variant,p.Pro510Ser,ENST00000396429,;OSBPL3,missense_variant,p.Pro479Ser,ENST00000409069,;OSBPL3,missense_variant,p.Pro515Ser,ENST00000409863,;OSBPL3,missense_variant,p.Pro546Ser,ENST00000409452,;OSBPL3,missense_variant,p.Pro510Ser,ENST00000409759,;OSBPL3,missense_variant,p.Pro479Ser,ENST00000409555,;	uc003sxf.2	c.1636C>T	2088/6760	2	2			c.1636C>T						7	SNP	c.(1636-1638)CCG>TCG	25	25			skin(1)	1	Broad	oxysterol-binding protein-like protein 3 isoform			24874215		0.632	ENSG00000070882	11089	g.chr7:24874215G>A	lipid transport		lipid binding|protein binding							-37.46339	KEEP	0	4	-1	91	107	0	4	-1	6.65056	91	107	0.022989	1	0	0	0	0	1	0	0	0	--	--		0	A			OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Missense_Mutation_p.P510S|OSBPL3_uc003sxh.2_Missense_Mutation_p.P515S|OSBPL3_uc003sxi.2_Missense_Mutation_p.P479S|OSBPL3_uc003sxj.1_Missense_Mutation_p.P275S|OSBPL3_uc003sxk.1_Missense_Mutation_p.P244S	119	GBM-12-0618-TP	p.P546S	G	AGCTCCACCGGCATGGCCACC	NM_015550	NP_056365	24874215	Q9H4L5	OSBL3_HUMAN	0			15	2041	-	A	A			Missense_Mutation	546						
OSBPL6	114880	broad.mit.edu	GRCh37	2	179238622	179238622	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-06-0877-01	TCGA-06-0877-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392505.2:c.1476T>G	p.Gly492=	p.G492=	ENST00000392505	NM_001201480.1	492	ggT/ggG	0			1			G	G	uc002ulx.2	protein_coding		CCDS2277.1			1401/2805									pancreas(1)	1	c.(1399-1401)GGT>GGG			hmmpanther:PTHR10972:SF76,hmmpanther:PTHR10972	oxysterol-binding protein-like protein 6 isoform				ENSP00000190611		15/25	8.24E-06					1.51E-05			rs748647308,COSM3748099,COSM3748098,COSM3748097	15/25	.		ENST00000190611	Transcript			lipid transport		lipid binding	ENSG00000079156	g.chr2:179238622T>G	16388			LOW								--	--	1																																		OSBPL6_uc002ulw.2_Silent_p.G400G|OSBPL6_uc002uly.2_Silent_p.G492G|OSBPL6_uc010zfe.1_Silent_p.G436G|OSBPL6_uc002ulz.2_Silent_p.G431G|OSBPL6_uc002uma.2_Silent_p.G471G	0,1,1,1				p.G467G	NM_032523	NP_115912			0,1,1,1	OSBL6_HUMAN	OSBPL6	HGNC	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)				15	1779	+			UPI0000130E97	467					SNV	OSBPL6,synonymous_variant,p.=,ENST00000190611,NM_032523.3;OSBPL6,synonymous_variant,p.=,ENST00000392505,NM_001201480.1;OSBPL6,synonymous_variant,p.=,ENST00000359685,NM_001201482.1;OSBPL6,synonymous_variant,p.=,ENST00000409045,NM_001201481.1;OSBPL6,synonymous_variant,p.=,ENST00000409631,;OSBPL6,synonymous_variant,p.=,ENST00000315022,NM_145739.2;OSBPL6,synonymous_variant,p.=,ENST00000357080,;	uc002ulx.2	c.1401T>G	1777/7055	4	4			c.1401T>G						2	SNP	c.(1399-1401)GGT>GGG	18	18			pancreas(1)	1	Broad	oxysterol-binding protein-like protein 6 isoform			179238622		0.438	ENSG00000079156	11091	g.chr2:179238622T>G	lipid transport		lipid binding							-8.727718	KEEP	7	20	-1	57	32	7	20	-1	7.004526	57	32	0.089888	1	0	0	0	0	0	0	1	0	--	--		0	G			OSBPL6_uc002ulw.2_Silent_p.G400G|OSBPL6_uc002uly.2_Silent_p.G492G|OSBPL6_uc010zfe.1_Silent_p.G436G|OSBPL6_uc002ulz.2_Silent_p.G431G|OSBPL6_uc002uma.2_Silent_p.G471G	73	GBM-06-0877-TP	p.G467G	T	TGCAGGCTGGTGAGCAAATCC	NM_032523	NP_115912	179238622	Q9BZF3	OSBL6_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		15	1779	+	G	G			Silent	467						
OSBPL6	114880	broad.mit.edu	GRCh37	2	179253861	179253861	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0879-01	TCGA-06-0879-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392505.2:c.2357G>A	p.Cys786Tyr	p.C786Y	ENST00000392505	NM_001201480.1	786	tGc/tAc	0			1			A	C/Y	uc002ulx.2	protein_coding		CCDS2277.1			2282/2805									pancreas(1)	1	c.(2281-2283)TGC>TAC			hmmpanther:PTHR10972:SF76,hmmpanther:PTHR10972,Pfam_domain:PF01237,Superfamily_domains:0051579	oxysterol-binding protein-like protein 6 isoform				ENSP00000190611		21/25									COSM2152272,COSM3407080,COSM2152271	21/25	.		ENST00000190611	Transcript			lipid transport		lipid binding	ENSG00000079156	g.chr2:179253861G>A	16388			MODERATE		3.765	high	getma.org/?cm=msa&ty=f&p=OSBL6_HUMAN&rb=570&re=919&var=C761Y	getma.org/pdb.php?prot=OSBL6_HUMAN&from=570&to=919&var=C761Y	getma.org/?cm=var&var=hg19,2,179253861,G,A&fts=all	C761Y	--	--	1																																		OSBPL6_uc002uly.2_Missense_Mutation_p.C786Y|OSBPL6_uc010zfe.1_Missense_Mutation_p.C730Y|OSBPL6_uc002ulz.2_Missense_Mutation_p.C725Y|OSBPL6_uc002uma.2_Missense_Mutation_p.C765Y	1,1,1			probably_damaging(0.999)	p.C761Y	NM_032523	NP_115912		deleterious(0)	1,1,1	OSBL6_HUMAN	OSBPL6	HGNC	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)				21	2660	+			UPI0000130E97	761					SNV	OSBPL6,missense_variant,p.Cys761Tyr,ENST00000190611,NM_032523.3;OSBPL6,missense_variant,p.Cys786Tyr,ENST00000392505,NM_001201480.1;OSBPL6,missense_variant,p.Cys725Tyr,ENST00000359685,NM_001201482.1;OSBPL6,missense_variant,p.Cys730Tyr,ENST00000409045,NM_001201481.1;OSBPL6,missense_variant,p.Cys725Tyr,ENST00000409631,;OSBPL6,missense_variant,p.Cys765Tyr,ENST00000315022,NM_145739.2;	uc002ulx.2	c.2282G>A	2658/7055	1	1			c.2282G>A						2	SNP	c.(2281-2283)TGC>TAC	51	51			pancreas(1)	1	Broad	oxysterol-binding protein-like protein 6 isoform			179253861		0.333	ENSG00000079156	11091	g.chr2:179253861G>A	lipid transport		lipid binding							91.60351	KEEP	19	18	-1	47	37	19	18	-1	95.462477	47	37	0.303571	1	0	0	0	0	1	0	0	0	--	--		0	A			OSBPL6_uc002uly.2_Missense_Mutation_p.C786Y|OSBPL6_uc010zfe.1_Missense_Mutation_p.C730Y|OSBPL6_uc002ulz.2_Missense_Mutation_p.C725Y|OSBPL6_uc002uma.2_Missense_Mutation_p.C765Y	75	GBM-06-0879-TP	p.C761Y	G	GTTTGCATTTGCAAACTCACA	NM_032523	NP_115912	179253861	Q9BZF3	OSBL6_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		21	2660	+	A	A			Missense_Mutation	761						
OSBPL8	0	broad.mit.edu	GRCh37	12	76791554	76791554	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-26-5133-01	TCGA-26-5133-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261183.3:c.592A>G	p.Ile198Val	p.I198V	ENST00000261183	NM_020841.4	198	Atc/Gtc	0			1			C	I/V	uc001sye.1	protein_coding	YES	CCDS31862.1			592/2670									ovary(1)	1	c.(592-594)ATC>GTC			Superfamily_domains:SSF50729,SMART_domains:SM00233,Pfam_domain:PF00169,Gene3D:2.30.29.30,hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF77,PROSITE_profiles:PS50003	oxysterol-binding protein-like protein 8 isoform				ENSP00000261183		24-Aug									COSM3399113	24-Aug	.		ENST00000261183	Transcript			lipid transport		lipid binding	ENSG00000091039	g.chr12:76791554T>C	16396			MODERATE		0.145	neutral	getma.org/?cm=msa&ty=f&p=OSBL8_HUMAN&rb=149&re=265&var=I198V	getma.org/pdb.php?prot=OSBL8_HUMAN&from=149&to=265&var=I198V	getma.org/?cm=var&var=hg19,12,76791554,T,C&fts=all	I198V	--	--	1																																		OSBPL8_uc001syf.1_Missense_Mutation_p.I156V|OSBPL8_uc001syg.1_Missense_Mutation_p.I156V|OSBPL8_uc001syh.1_Missense_Mutation_p.I173V	1	1		benign(0.06)	p.I198V	NM_020841	NP_065892		tolerated(0.28)	1	OSBL8_HUMAN	OSBPL8	HGNC	Q9BZF1	OSBL8_HUMAN			Q96E43_HUMAN,Q6ZME5_HUMAN,F8VZB8_HUMAN,F8VVE7_HUMAN,F8VVD3_HUMAN,F8VQX7_HUMAN		8	1072	-			UPI000006ECD1	198			PH.		SNV	OSBPL8,missense_variant,p.Ile198Val,ENST00000261183,NM_020841.4;OSBPL8,missense_variant,p.Ile156Val,ENST00000393249,;OSBPL8,missense_variant,p.Ile156Val,ENST00000393250,NM_001003712.1;OSBPL8,missense_variant,p.Ile173Val,ENST00000546946,;OSBPL8,missense_variant,p.Ile198Val,ENST00000547540,;OSBPL8,downstream_gene_variant,,ENST00000553139,;OSBPL8,downstream_gene_variant,,ENST00000549570,;OSBPL8,downstream_gene_variant,,ENST00000549646,;OSBPL8,downstream_gene_variant,,ENST00000550628,;OSBPL8,downstream_gene_variant,,ENST00000548341,;OSBPL8,upstream_gene_variant,,ENST00000550865,;	uc001sye.1	c.592A>G	1072/7239	3	3			c.592A>G						12	SNP	c.(592-594)ATC>GTC	9	9			ovary(1)	1	Broad	oxysterol-binding protein-like protein 8 isoform			76791554		0.408	ENSG00000091039	11093	g.chr12:76791554T>C	lipid transport		lipid binding							-2.39927	KEEP	4	4	-1	54	66	4	4	-1	21.496127	54	66	0.065574	1	0	0	0	0	1	0	0	0	--	--		0	C			OSBPL8_uc001syf.1_Missense_Mutation_p.I156V|OSBPL8_uc001syg.1_Missense_Mutation_p.I156V|OSBPL8_uc001syh.1_Missense_Mutation_p.I173V	182	GBM-26-5133-TP	p.I198V	T	CGTTCAATGATTTCACAGGCA	NM_020841	NP_065892	76791554	Q9BZF1	OSBL8_HUMAN	0			8	1072	-	C	C			Missense_Mutation	198			PH.			
OSER1	0	broad.mit.edu	GRCh37	20	42826177	42826177	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01	TCGA-15-0742-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255174.2:c.394G>A	p.Gly132Arg	p.G132R	ENST00000255174	NM_016470.7	132	Gga/Aga	0			1			T	G/R	uc002xlk.2	protein_coding		CCDS13327.1			394/879										0	c.(394-396)GGA>AGA			Pfam_domain:PF05604,hmmpanther:PTHR31383,hmmpanther:PTHR31383:SF1	oxidative stress responsive 1				ENSP00000255174		4-Apr	8.24E-06	9.63E-05							rs759416435,COSM3405104	4-Apr	.		ENST00000255174	Transcript						ENSG00000132823	g.chr20:42826177C>T	16105			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CT111_HUMAN&rb=1&re=183&var=G132R	NA	getma.org/?cm=var&var=hg19,20,42826177,C,T&fts=all	G132R	--	--	1																																			0,1			benign(0.017)	p.G132R	NM_016470	NP_057554		tolerated(0.24)	0,1	OSER1_HUMAN	OSER1	HGNC	Q9NX31	CT111_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)				4	531	-		Myeloproliferative disorder(115;0.028)	UPI000004A0E4	132					SNV	OSER1,missense_variant,p.Gly132Arg,ENST00000372970,;OSER1,missense_variant,p.Gly132Arg,ENST00000255174,NM_016470.7;	uc002xlk.2	c.394G>A	531/1572	2	2			c.394G>A						20	SNP	c.(394-396)GGA>AGA	30	30				0	Broad	oxidative stress responsive 1			42826177		0.498	ENSG00000132823	2037	g.chr20:42826177C>T										195.142799	KEEP	40	38	-1	145	113	40	38	-1	215.675677	145	113	0.231511	1	0	0	0	0	1	0	0	0	--	--		0	T				153	GBM-15-0742-TP	p.G132R	C	GAGCTTTCTCCTGCACTGAAC	NM_016470	NP_057554	42826177	Q9NX31	CT111_HUMAN	0	COAD - Colon adenocarcinoma(18;0.00189)		4	531	-	T	T		Myeloproliferative disorder(115;0.028)	Missense_Mutation	132						
OSGEP	0	broad.mit.edu	GRCh37	14	20917163	20917163	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01	TCGA-14-1450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000206542.4:c.517G>A	p.Asp173Asn	p.D173N	ENST00000206542	NM_017807.3	173	Gac/Aac	0			1			T	D/N	uc001vxf.2	protein_coding	YES	CCDS9549.1			517/1008										0	c.(517-519)GAC>AAC			Superfamily_domains:SSF53067,TIGRFAM_domain:TIGR00329,Pfam_domain:PF00814,hmmpanther:PTHR11735	O-sialoglycoprotein endopeptidase				ENSP00000206542		11-May	3.29E-05					4.50E-05	0.0011		rs575185404,COSM3401201	11-May	.		ENST00000206542	Transcript			proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding	ENSG00000092094	g.chr14:20917163C>T	18028			MODERATE		2.32	medium	getma.org/?cm=msa&ty=f&p=OSGEP_HUMAN&rb=23&re=301&var=D173N	getma.org/pdb.php?prot=OSGEP_HUMAN&from=23&to=301&var=D173N	getma.org/?cm=var&var=hg19,14,20917163,C,T&fts=all	D173N	--	--	1																																			0,1	1		benign(0.168)	p.D173N	NM_017807	NP_060277		deleterious(0.04)	0,1	OSGEP_HUMAN	OSGEP	HGNC	Q9NPF4	OSGEP_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)	G3V4G5_HUMAN,G3V4G4_HUMAN,G3V425_HUMAN,G3V249_HUMAN		5	873	-	all_cancers(95;0.00123)	all_lung(585;0.235)	UPI0000033CBD	173					SNV	OSGEP,missense_variant,p.Asp173Asn,ENST00000206542,NM_017807.3;OSGEP,5_prime_UTR_variant,,ENST00000555656,;OSGEP,5_prime_UTR_variant,,ENST00000554249,;OSGEP,5_prime_UTR_variant,,ENST00000555223,;OSGEP,5_prime_UTR_variant,,ENST00000555785,;OSGEP,downstream_gene_variant,,ENST00000488532,;OSGEP,downstream_gene_variant,,ENST00000553640,;RP11-203M5.7,upstream_gene_variant,,ENST00000555435,;OSGEP,downstream_gene_variant,,ENST00000556252,;OSGEP,downstream_gene_variant,,ENST00000554699,;OSGEP,non_coding_transcript_exon_variant,,ENST00000556124,;OSGEP,non_coding_transcript_exon_variant,,ENST00000554915,;OSGEP,downstream_gene_variant,,ENST00000556439,;OSGEP,upstream_gene_variant,,ENST00000553292,;	uc001vxf.2	c.517G>A	939/2002	2	2			c.517G>A						14	SNP	c.(517-519)GAC>AAC	45	45				0	Broad	O-sialoglycoprotein endopeptidase			20917163		0.448	ENSG00000092094	11097	g.chr14:20917163C>T	proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding							145.584648	KEEP	27	42	-1	108	98	27	42	-1	157.789964	108	98	0.2625	1	0	0	0	0	1	0	0	0	--	--		0	T				145	GBM-14-1450-TP	p.D173N	C	GGACTTGGGTCGTTAGAAATC	NM_017807	NP_060277	20917163	Q9NPF4	OSGEP_HUMAN	0	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)	5	873	-	T	T	all_cancers(95;0.00123)	all_lung(585;0.235)	Missense_Mutation	173						
OSGEP	0	broad.mit.edu	GRCh37	14	20922812	20922812	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4208-01	TCGA-32-4208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000206542.4:c.31G>A	p.Ala11Thr	p.A11T	ENST00000206542	NM_017807.3	11	Gcc/Acc	0			1			T	A/T	uc001vxf.2	protein_coding	YES	CCDS9549.1			31/1008										0	c.(31-33)GCC>ACC			Prints_domain:PR00789,Superfamily_domains:SSF53067,TIGRFAM_domain:TIGR00329,Gene3D:3.30.420.40,hmmpanther:PTHR11735	O-sialoglycoprotein endopeptidase				ENSP00000206542		11-Jan									COSM3401202	11-Jan	.		ENST00000206542	Transcript			proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding	ENSG00000092094	g.chr14:20922812C>T	18028			MODERATE		4.16	high	getma.org/?cm=msa&ty=f&p=OSGEP_HUMAN&rb=1&re=52&var=A11T	getma.org/pdb.php?prot=OSGEP_HUMAN&from=1&to=22&var=A11T	getma.org/?cm=var&var=hg19,14,20922812,C,T&fts=all	A11T	--	--	1																																		APEX1_uc001vxg.2_5'Flank|APEX1_uc001vxh.2_5'Flank|APEX1_uc001vxi.2_5'Flank|APEX1_uc001vxj.2_5'Flank	1	1		probably_damaging(0.968)	p.A11T	NM_017807	NP_060277		deleterious(0)	1	OSGEP_HUMAN	OSGEP	HGNC	Q9NPF4	OSGEP_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)	G3V4G5_HUMAN,G3V4G4_HUMAN,G3V425_HUMAN,G3V249_HUMAN		1	387	-	all_cancers(95;0.00123)	all_lung(585;0.235)	UPI0000033CBD	11					SNV	OSGEP,missense_variant,p.Ala11Thr,ENST00000206542,NM_017807.3;OSGEP,missense_variant,p.Ala11Thr,ENST00000488532,;OSGEP,missense_variant,p.Ala11Thr,ENST00000553640,;OSGEP,upstream_gene_variant,,ENST00000555656,;TMEM55B,downstream_gene_variant,,ENST00000250489,;TMEM55B,downstream_gene_variant,,ENST00000398020,NM_144568.2,NM_001100814.1;APEX1,upstream_gene_variant,,ENST00000216714,NM_001244249.1,NM_001641.3;APEX1,upstream_gene_variant,,ENST00000555414,NM_080649.2,NM_080648.2;APEX1,upstream_gene_variant,,ENST00000398030,;TMEM55B,downstream_gene_variant,,ENST00000554028,;APEX1,upstream_gene_variant,,ENST00000555839,;APEX1,upstream_gene_variant,,ENST00000553681,;APEX1,upstream_gene_variant,,ENST00000557054,;TMEM55B,downstream_gene_variant,,ENST00000553460,;OSGEP,upstream_gene_variant,,ENST00000555223,;APEX1,upstream_gene_variant,,ENST00000556054,;APEX1,upstream_gene_variant,,ENST00000557150,;APEX1,upstream_gene_variant,,ENST00000557344,;APEX1,upstream_gene_variant,,ENST00000557592,;APEX1,upstream_gene_variant,,ENST00000557181,;APEX1,upstream_gene_variant,,ENST00000438886,;APEX1,upstream_gene_variant,,ENST00000553368,;RP11-203M5.7,downstream_gene_variant,,ENST00000555435,;OSGEP,non_coding_transcript_exon_variant,,ENST00000556252,;OSGEP,non_coding_transcript_exon_variant,,ENST00000554699,;APEX1,upstream_gene_variant,,ENST00000557365,;APEX1,upstream_gene_variant,,ENST00000554813,;APEX1,upstream_gene_variant,,ENST00000556296,;OSGEP,non_coding_transcript_exon_variant,,ENST00000556439,;TMEM55B,downstream_gene_variant,,ENST00000557041,;APEX1,upstream_gene_variant,,ENST00000557159,;APEX1,upstream_gene_variant,,ENST00000553555,;APEX1,upstream_gene_variant,,ENST00000555306,;APEX1,upstream_gene_variant,,ENST00000554325,;TMEM55B,downstream_gene_variant,,ENST00000553602,;	uc001vxf.2	c.31G>A	453/2002	2	2			c.31G>A						14	SNP	c.(31-33)GCC>ACC	36	36				0	Broad	O-sialoglycoprotein endopeptidase			20922812		0.632	ENSG00000092094	11097	g.chr14:20922812C>T	proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding							70.702598	KEEP	17	15	-1	34	24	17	15	-1	72.569817	34	24	0.3375	1	0	0	0	0	1	0	0	0	--	--		0	T			APEX1_uc001vxg.2_5'Flank|APEX1_uc001vxh.2_5'Flank|APEX1_uc001vxi.2_5'Flank|APEX1_uc001vxj.2_5'Flank	243	GBM-32-4208-TP	p.A11T	C	ATCTTATTGGCGCTGCCTTCA	NM_017807	NP_060277	20922812	Q9NPF4	OSGEP_HUMAN	0	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)	1	387	-	T	T	all_cancers(95;0.00123)	all_lung(585;0.235)	Missense_Mutation	11						
OSGIN1	0	broad.mit.edu	GRCh37	16	83994249	83994249	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs62640906	byFrequency	TCGA-28-1753-01	TCGA-28-1753-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343939.2:c.529C>T	p.Arg177Cys	p.R177C	ENST00000343939		177	Cgc/Tgc	0	G:0.0005	G:0	1	G:0.0014		T	R/C	uc002fha.2	protein_coding					529/1683										0	c.(529-531)CGC>TGC			hmmpanther:PTHR15192,hmmpanther:PTHR15192:SF15	oxidative stress induced growth inhibitor 1		G:0	G:0.0035	ENSP00000343376	G:0.002	7-May	8.24E-06					1.52E-05			rs62640906,COSM3402520	7-May	.		ENST00000343939	Transcript		G:0.0006	cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	ENSG00000140961	g.chr16:83994249C>T	30093			MODERATE		1.715	low	getma.org/?cm=msa&ty=f&p=OSGI1_HUMAN&rb=1&re=191&var=R177C	NA	getma.org/?cm=var&var=hg19,16,83994249,C,T&fts=all	R177C	--	--	1																																		OSGIN1_uc002fhb.2_Missense_Mutation_p.R94C|OSGIN1_uc002fhc.2_Missense_Mutation_p.R94C	0,1			probably_damaging(0.964)	p.R177C	NM_013370	NP_037502	G:0	deleterious(0.01)	0,1	OSGI1_HUMAN	OSGIN1	HGNC	Q9UJX0	OSGI1_HUMAN			J3KRK7_HUMAN,H3BTF9_HUMAN		5	912	+			UPI0000366B6F	177					SNV	OSGIN1,missense_variant,p.Arg177Cys,ENST00000343939,;OSGIN1,missense_variant,p.Arg94Cys,ENST00000361711,;OSGIN1,missense_variant,p.Arg94Cys,ENST00000393306,NM_182981.2;OSGIN1,missense_variant,p.Arg94Cys,ENST00000565123,;OSGIN1,missense_variant,p.Arg94Cys,ENST00000567707,;OSGIN1,downstream_gene_variant,,ENST00000561552,;	uc002fha.2	c.529C>T	912/2391	2	2			c.529C>T						16	SNP	c.(529-531)CGC>TGC	46	46				0	Broad	oxidative stress induced growth inhibitor 1			83994249		0.632	ENSG00000140961	11099	g.chr16:83994249C>T	cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity							74.288195	KEEP	11	19	-1	31	34	11	19	-1	76.805171	31	34	0.317647	1	0	0	0	0	1	0	0	0	--	--		0	T			OSGIN1_uc002fhb.2_Missense_Mutation_p.R94C|OSGIN1_uc002fhc.2_Missense_Mutation_p.R94C	207	GBM-28-1753-TP	p.R177C	C	TGCCCTTCTACGCCCAGACAC	NM_013370	NP_037502	83994249	Q9UJX0	OSGI1_HUMAN	0			5	912	+	T	T			Missense_Mutation	177						
OSM	0	broad.mit.edu	GRCh37	22	30660354	30660354	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01	TCGA-19-5952-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000215781.2:c.277C>T	p.Arg93Trp	p.R93W	ENST00000215781	NM_020530.4	93	Cgg/Tgg	0	A:0	A:0	1	A:0		A	R/W	uc003ahb.2	protein_coding	YES	CCDS13873.1			277/759									skin(1)	1	c.(277-279)CGG>TGG			hmmpanther:PTHR14261,Pfam_domain:PF01291,Gene3D:1.20.1250.10,SMART_domains:SM00080,Superfamily_domains:SSF47266	oncostatin M precursor		A:0	A:0.0001	ENSP00000215781	A:0	3-Mar	4.12E-05					1.54E-05		0.000244	rs201503663,COSM2156696	3-Mar	.		ENST00000215781	Transcript		A:0.0002	cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding	ENSG00000099985	g.chr22:30660354G>A	8506			MODERATE		0.46	neutral	getma.org/?cm=msa&ty=f&p=ONCM_HUMAN&rb=37&re=209&var=R93W	getma.org/pdb.php?prot=ONCM_HUMAN&from=37&to=209&var=R93W	getma.org/?cm=var&var=hg19,22,30660354,G,A&fts=all	R93W	--	--	1																																			0,1	1		benign(0.02)	p.R93W	NM_020530	NP_065391	A:0.001	tolerated(0.12)	0,1	ONCM_HUMAN	OSM	HGNC	P13725	ONCM_HUMAN	Epithelial(10;0.206)		B5MCX1_HUMAN,B5BUQ7_HUMAN		3	329	-			UPI0000130D33	93					SNV	OSM,missense_variant,p.Arg93Trp,ENST00000215781,NM_020530.4;OSM,missense_variant,p.Arg72Trp,ENST00000403389,;OSM,3_prime_UTR_variant,,ENST00000403463,;	uc003ahb.2	c.277C>T	318/1854	2	2			c.277C>T						22	SNP	c.(277-279)CGG>TGG	21	21			skin(1)	1	Broad	oncostatin M precursor			30660354		0.642	ENSG00000099985	11101	g.chr22:30660354G>A	cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding							67.69062	KEEP	14	10	-1	12	25	14	10	-1	67.93935	12	25	0.428571	1	0	0	0	0	1	0	0	0	--	--		0	A				172	GBM-19-5952-TP	p.R93W	G	AGGAAGCCCCGCCTGCCCAGC	NM_020530	NP_065391	30660354	P13725	ONCM_HUMAN	0	Epithelial(10;0.206)		3	329	-	A	A			Missense_Mutation	93						
OSMR	9180	broad.mit.edu	GRCh37	5	38924670	38924670	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01	TCGA-06-0744-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274276.3:c.2017C>T	p.Pro673Ser	p.P673S	ENST00000274276	NM_003999.2	673	Cca/Tca	0			1			T	P/S	uc003jln.1	protein_coding	YES	CCDS3928.1			2017/2940									ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	c.(2017-2019)CCA>TCA			PROSITE_profiles:PS50853,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF80,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	oncostatin M receptor precursor				ENSP00000274276		14/18									COSM2151661	14/18	.		ENST00000274276	Transcript	1		cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	ENSG00000145623	g.chr5:38924670C>T	8507			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=OSMR_HUMAN&rb=625&re=732&var=P673S	getma.org/pdb.php?prot=OSMR_HUMAN&from=625&to=732&var=P673S	getma.org/?cm=var&var=hg19,5,38924670,C,T&fts=all	P673S	--	--	1																																		OSMR_uc011cpj.1_5'UTR	1	1		benign(0.017)	p.P673S	NM_003999	NP_003990		tolerated(0.32)	1	OSMR_HUMAN	OSMR	HGNC	Q99650	OSMR_HUMAN					14	2384	+	all_lung(31;0.000365)		UPI000004CAC3	673			Fibronectin type-III 4.|Extracellular (Potential).		SNV	OSMR,missense_variant,p.Pro673Ser,ENST00000274276,NM_003999.2;	uc003jln.1	c.2017C>T	2419/5539	2	2			c.2017C>T						5	SNP	c.(2017-2019)CCA>TCA	45	45			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	Broad	oncostatin M receptor precursor			38924670		0.358	ENSG00000145623	11102	g.chr5:38924670C>T	cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity							132.692276	KEEP	31	20	-1	68	51	31	20	-1	137.551711	68	51	0.308725	1	0	0	0	0	1	0	0	0	--	--		0	T			OSMR_uc011cpj.1_5'UTR	66	GBM-06-0744-TP	p.P673S	C	GCAGTGCCACCCACGATTTGA	NM_003999	NP_003990	38924670	Q99650	OSMR_HUMAN	0			14	2384	+	T	T	all_lung(31;0.000365)		Missense_Mutation	673			Fibronectin type-III 4.|Extracellular (Potential).			
OSTC	58505	broad.mit.edu	GRCh37	4	109571929	109571929	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0145-01	TCGA-06-0145-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000512478.2:c.118T>C	p.Ser40Pro	p.S40P	ENST00000512478	NM_001267818.1	40	Tct/Cct	0			1			C	S/P	uc003hzb.1	protein_coding		CCDS3681.1			118/450									breast(1)	1	c.(118-120)TCT>CCT			Pfam_domain:PF04756,hmmpanther:PTHR13160,Transmembrane_helices:TMhelix	DC2 protein				ENSP00000354676		4-Jan										4-Jan	.		ENST00000361564	Transcript				integral to membrane|oligosaccharyltransferase complex		ENSG00000198856	g.chr4:109571929T>C	24448			MODERATE		2.98	medium	getma.org/?cm=msa&ty=f&p=OSTC_HUMAN&rb=5&re=138&var=S40P	NA	getma.org/?cm=var&var=hg19,4,109571929,T,C&fts=all	S40P	--	--	1																																						probably_damaging(0.999)	p.S40P	NM_021227	NP_067050		deleterious(0.03)		OSTC_HUMAN	OSTC	HGNC	Q9NRP0	OSTC_HUMAN					1	189	+			UPI00000724D2	40			Helical; (Potential).		SNV	OSTC,missense_variant,p.Ser40Pro,ENST00000361564,NM_021227.3;OSTC,missense_variant,p.Ser40Pro,ENST00000512478,NM_001267818.1;RNU6-431P,upstream_gene_variant,,ENST00000383874,;OSTC,non_coding_transcript_exon_variant,,ENST00000505745,;OSTC,non_coding_transcript_exon_variant,,ENST00000510556,;	uc003hzb.1	c.118T>C	190/1077	3	3			c.118T>C						4	SNP	c.(118-120)TCT>CCT	8	8			breast(1)	1	Broad	DC2 protein			109571929		0.612	ENSG00000198856	11106	g.chr4:109571929T>C		integral to membrane|oligosaccharyltransferase complex								-10.027522	KEEP	3	0	-1	43	39	3	0	-1	6.502465	43	39	0.041096	1	0	0	0	0	1	0	0	0	--	--		0	C				23	GBM-06-0145-TP	p.S40P	T	GGTGGTGGTGTCTTACTTCCT	NM_021227	NP_067050	109571929	Q9NRP0	OSTC_HUMAN	0			1	189	+	C	C			Missense_Mutation	40			Helical; (Potential).			
OTC	0	broad.mit.edu	GRCh37	X	38260563	38260563	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs68026851		TCGA-06-6391-01	TCGA-06-6391-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000039007.4:c.422G>C	p.Arg141Pro	p.R141P	ENST00000039007	NM_000531.5	141	cGa/cCa	0			1			C	R/P	uc004def.3	protein_coding	YES	CCDS14247.1			422/1065						pathogenic			ovary(1)|breast(1)	2	c.(421-423)CGA>CCA			Gene3D:3.40.50.1370,Pfam_domain:PF02729,hmmpanther:PTHR11405,Superfamily_domains:SSF53671,TIGRFAM_domain:TIGR00658	ornithine carbamoyltransferase precursor	L-Citrulline(DB00155)|L-Ornithine(DB00129)			ENSP00000039007		10-May	0.000255	0.000653		0.000175		0.000116			rs68026851,COSM3844656	10-May	.		ENST00000039007	Transcript	1		arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity	ENSG00000036473	g.chrX:38260563G>C	8512			MODERATE		4.575	high	getma.org/?cm=msa&ty=f&p=OTC_HUMAN&rb=40&re=182&var=R141P	getma.org/pdb.php?prot=OTC_HUMAN&from=40&to=182&var=R141P	getma.org/?cm=var&var=hg19,X,38260563,G,C&fts=all	R141P	--	--	1																																			1,1	1	92,663,883,170,748	probably_damaging(0.995)	p.R141P	NM_000531	NP_000522		deleterious(0)	0,1	OTC_HUMAN	OTC	HGNC	P00480	OTC_HUMAN					5	636	+			UPI000013C550	141		R -> Q (in OTCD; activity is 100-fold lower; most common point mutation).|R -> P (in OTCD).		Ornithine.|Carbamoyl phosphate.	SNV	OTC,missense_variant,p.Arg141Pro,ENST00000039007,NM_000531.5;TM4SF2,intron_variant,,ENST00000465127,;OTC,non_coding_transcript_exon_variant,,ENST00000488812,;	uc004def.3	c.422G>C	574/1585	3	3			c.422G>C						23	SNP	c.(421-423)CGA>CCA	53	53			ovary(1)|breast(1)	2	Broad	ornithine carbamoyltransferase precursor		L-Citrulline(DB00155)|L-Ornithine(DB00129)	38260563		0.378	ENSG00000036473	11111	g.chrX:38260563G>C	arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity							1.497993	KEEP	6	7	-1	32	26	6	7	-1	8.748852	32	26	0.117647	1	0	0	0	0	1	0	0	0	--	--		0	C				107	GBM-06-6391-TP	p.R141P	G	GTATTGGCTCGAGTGTATAAA	NM_000531	NP_000522	38260563	P00480	OTC_HUMAN	0			5	636	+	C	C			Missense_Mutation	141		R -> Q (in OTCD; activity is 100-fold lower; most common point mutation).|R -> P (in OTCD).		Ornithine.|Carbamoyl phosphate.		
OTC	0	broad.mit.edu	GRCh37	X	38260629	38260629	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-5218-01	TCGA-28-5218-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000039007.4:c.488T>C	p.Leu163Pro	p.L163P	ENST00000039007	NM_000531.5	163	cTg/cCg	0			1			C	L/P	uc004def.3	protein_coding	YES	CCDS14247.1			488/1065									ovary(1)|breast(1)	2	c.(487-489)CTG>CCG			Gene3D:3.40.50.1370,Pfam_domain:PF02729,Prints_domain:PR00102,hmmpanther:PTHR11405,Superfamily_domains:SSF53671,TIGRFAM_domain:TIGR00658	ornithine carbamoyltransferase precursor	L-Citrulline(DB00155)|L-Ornithine(DB00129)			ENSP00000039007		10-May									COSM3406356	10-May	.		ENST00000039007	Transcript	1		arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity	ENSG00000036473	g.chrX:38260629T>C	8512			MODERATE		4.32	high	getma.org/?cm=msa&ty=f&p=OTC_HUMAN&rb=40&re=182&var=L163P	getma.org/pdb.php?prot=OTC_HUMAN&from=40&to=182&var=L163P	getma.org/?cm=var&var=hg19,X,38260629,T,C&fts=all	L163P	--	--	1																																			1	1		probably_damaging(0.993)	p.L163P	NM_000531	NP_000522		deleterious(0)	1	OTC_HUMAN	OTC	HGNC	P00480	OTC_HUMAN					5	702	+			UPI000013C550	163					SNV	OTC,missense_variant,p.Leu163Pro,ENST00000039007,NM_000531.5;TM4SF2,intron_variant,,ENST00000465127,;OTC,non_coding_transcript_exon_variant,,ENST00000488812,;	uc004def.3	c.488T>C	640/1585	3	3			c.488T>C						23	SNP	c.(487-489)CTG>CCG	13	13			ovary(1)|breast(1)	2	Broad	ornithine carbamoyltransferase precursor		L-Citrulline(DB00155)|L-Ornithine(DB00129)	38260629		0.408	ENSG00000036473	11111	g.chrX:38260629T>C	arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity							219.55139	KEEP	36	34	-1	15	16	36	34	-1	222.550372	15	16	0.692308	1	0	0	0	0	1	0	0	0	--	--		0	C				224	GBM-28-5218-TP	p.L163P	T	ATCAATGGGCTGTCAGATTTG	NM_000531	NP_000522	38260629	P00480	OTC_HUMAN	0			5	702	+	C	C			Missense_Mutation	163						
OTOA	146183	broad.mit.edu	GRCh37	16	21689852	21689852	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs144912852		TCGA-06-0174-01	TCGA-06-0174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388958.3:c.17C>T	p.Thr6Met	p.T6M	ENST00000388958	NM_144672.3	6	aCg/aTg	0	T:0.0002		1			T	T/M	uc002djh.2	protein_coding					17/3462									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(16-18)ACG>ATG			hmmpanther:PTHR23412,hmmpanther:PTHR23412:SF14,Cleavage_site_(Signalp):SignalP-noTM	otoancorin isoform 1			T:0	ENSP00000286149		28-Jan	8.24E-06	9.61E-05							rs144912852,COSM3402170,COSM3402171	28-Jan	.		ENST00000286149	Transcript	1		sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		ENSG00000155719	g.chr16:21689852C>T	16378			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=OTOAN_HUMAN&rb=1&re=1127&var=T6M	NA	getma.org/?cm=var&var=hg19,16,21689852,C,T&fts=all	T6M	--	--	1																																		uc002diq.3_Intron	0,1,1			possibly_damaging(0.747)	p.T6M	NM_144672	NP_653273		tolerated_low_confidence(0.06)	0,1,1	OTOAN_HUMAN	OTOA	HGNC	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	B4DZ38_HUMAN		1	18	+			UPI000013DE2F	6					SNV	OTOA,missense_variant,p.Thr6Met,ENST00000388958,NM_144672.3;OTOA,missense_variant,p.Thr6Met,ENST00000286149,;	uc002djh.2	c.17C>T	18/3471	2	2			c.17C>T						16	SNP	c.(16-18)ACG>ATG	47	47			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	otoancorin isoform 1			21689852		0.333	ENSG00000155719	11112	g.chr16:21689852C>T	sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix								205.445331	KEEP	46	26	-1	46	32	46	26	-1	205.451893	46	32	0.507692	1	0	0	0	0	1	0	0	0	--	--		0	T			uc002diq.3_Intron	37	GBM-06-0174-TP	p.T6M	C	CAGGAACCTACGACATACTCC	NM_144672	NP_653273	21689852	Q7RTW8	OTOAN_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0414)	1	18	+	T	T			Missense_Mutation	6						
OTOA	0	broad.mit.edu	GRCh37	16	21698929	21698929	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs148114778		TCGA-32-2495-01	TCGA-32-2495-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286149.4:c.595C>T	p.Arg199Trp	p.R199W	ENST00000286149		199	Cgg/Tgg	0	T:0		1			T	R/W	uc002djh.2	protein_coding					595/3462									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(595-597)CGG>TGG			hmmpanther:PTHR23412,hmmpanther:PTHR23412:SF14	otoancorin isoform 1			T:0.0001	ENSP00000286149		28-Jul	1.65E-05					1.51E-05		6.07E-05	rs148114778,COSM3402173,COSM3402174	28-Jul	.		ENST00000286149	Transcript	1		sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		ENSG00000155719	g.chr16:21698929C>T	16378			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=OTOAN_HUMAN&rb=1&re=1127&var=R199W	NA	getma.org/?cm=var&var=hg19,16,21698929,C,T&fts=all	R199W	--	--	1																																		uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.R120W	0,1,1			benign(0.002)	p.R199W	NM_144672	NP_653273		tolerated(0.09)	0,1,1	OTOAN_HUMAN	OTOA	HGNC	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	B4DZ38_HUMAN		7	596	+			UPI000013DE2F	199					SNV	OTOA,missense_variant,p.Arg199Trp,ENST00000388958,NM_144672.3;OTOA,missense_variant,p.Arg199Trp,ENST00000286149,;OTOA,missense_variant,p.Arg120Trp,ENST00000388956,NM_001161683.1;	uc002djh.2	c.595C>T	596/3471	1	1			c.595C>T						16	SNP	c.(595-597)CGG>TGG	13	13			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	otoancorin isoform 1			21698929		0.473	ENSG00000155719	11112	g.chr16:21698929C>T	sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix								97.627907	KEEP	17	18	-1	21	22	17	18	-1	97.679442	21	22	0.469697	1	0	0	0	0	1	0	0	0	--	--		0	T			uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.R120W	237	GBM-32-2495-TP	p.R199W	C	CATCACAGAGCGGCTCCCTCG	NM_144672	NP_653273	21698929	Q7RTW8	OTOAN_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0414)	7	596	+	T	T			Missense_Mutation	199						
OTOA	0	broad.mit.edu	GRCh37	16	21716537	21716537	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4926-01	TCGA-76-4926-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286149.4:c.1070C>T	p.Ala357Val	p.A357V	ENST00000286149		357	gCc/gTc	0			1			T	A/V	uc002djh.2	protein_coding					1070/3462									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(1027-1029)GCC>GTC			hmmpanther:PTHR23412,hmmpanther:PTHR23412:SF14	otoancorin isoform 1				ENSP00000286149		28-Nov									COSM3402175,COSM3402177,COSM3402176	28-Nov	.		ENST00000286149	Transcript	1		sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		ENSG00000155719	g.chr16:21716537C>T	16378			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=OTOAN_HUMAN&rb=1&re=1127&var=A357V	NA	getma.org/?cm=var&var=hg19,16,21716537,C,T&fts=all	A357V	--	--	1																																		uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.A264V|OTOA_uc002dji.2_Missense_Mutation_p.A19V|OTOA_uc010vbk.1_5'UTR	1,1,1			benign(0.065)	p.A343V	NM_144672	NP_653273		tolerated(0.06)	1,1,1	OTOAN_HUMAN	OTOA	HGNC	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	B4DZ38_HUMAN		11	1029	+			UPI000013DE2F	357					SNV	OTOA,missense_variant,p.Ala343Val,ENST00000388958,NM_144672.3;OTOA,missense_variant,p.Ala357Val,ENST00000286149,;OTOA,missense_variant,p.Ala264Val,ENST00000388956,NM_001161683.1;OTOA,missense_variant,p.Ala19Val,ENST00000388957,NM_170664.2;OTOA,non_coding_transcript_exon_variant,,ENST00000569064,;OTOA,non_coding_transcript_exon_variant,,ENST00000563871,;	uc002djh.2	c.1028C>T	1071/3471	1	1			c.1028C>T						16	SNP	c.(1027-1029)GCC>GTC	13	13			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	otoancorin isoform 1			21716537		0.512	ENSG00000155719	11112	g.chr16:21716537C>T	sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix								300.793705	KEEP	63	59	-1	79	97	63	59	-1	302.462019	79	97	0.415094	1	0	0	0	0	1	0	0	0	--	--		0	T			uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.A264V|OTOA_uc002dji.2_Missense_Mutation_p.A19V|OTOA_uc010vbk.1_5'UTR	266	GBM-76-4926-TP	p.A343V	C	TTGCTGGATGCCACTGTGGCT	NM_144672	NP_653273	21716537	Q7RTW8	OTOAN_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0414)	11	1029	+	T	T			Missense_Mutation	357						
OTOA	0	broad.mit.edu	GRCh37	16	21726417	21726417	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01	TCGA-76-4935-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286149.4:c.1474G>A	p.Val492Ile	p.V492I	ENST00000286149		492	Gtc/Atc	0		A:0	1	A:0		A	V/I	uc002djh.2	protein_coding					1474/3462									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(1432-1434)GTC>ATC			hmmpanther:PTHR23412,hmmpanther:PTHR23412:SF14	otoancorin isoform 1		A:0		ENSP00000286149	A:0	13/28	3.29E-05					3.00E-05		0.000121	rs572283930,COSM183046,COSM3402179,COSM3402178	13/28	.		ENST00000286149	Transcript	1	A:0.0002	sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		ENSG00000155719	g.chr16:21726417G>A	16378			MODERATE		-1.39	neutral	getma.org/?cm=msa&ty=f&p=OTOAN_HUMAN&rb=1&re=1127&var=V492I	NA	getma.org/?cm=var&var=hg19,16,21726417,G,A&fts=all	V492I	--	--	1																																		uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.V399I|OTOA_uc002dji.2_Missense_Mutation_p.V154I|OTOA_uc010vbk.1_Missense_Mutation_p.V126I	0,1,1,1			benign(0.008)	p.V478I	NM_144672	NP_653273	A:0.001	tolerated(0.58)	0,1,1,1	OTOAN_HUMAN	OTOA	HGNC	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	B4DZ38_HUMAN		13	1433	+			UPI000013DE2F	492					SNV	OTOA,missense_variant,p.Val478Ile,ENST00000388958,NM_144672.3;OTOA,missense_variant,p.Val492Ile,ENST00000286149,;OTOA,missense_variant,p.Val399Ile,ENST00000388956,NM_001161683.1;OTOA,missense_variant,p.Val154Ile,ENST00000388957,NM_170664.2;OTOA,non_coding_transcript_exon_variant,,ENST00000563871,;	uc002djh.2	c.1432G>A	1475/3471	1	1			c.1432G>A						16	SNP	c.(1432-1434)GTC>ATC	51	51			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	otoancorin isoform 1			21726417		0.577	ENSG00000155719	11112	g.chr16:21726417G>A	sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix								500.970219	KEEP	86	109	-1	96	129	86	109	-1	501.469269	96	129	0.460705	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.V399I|OTOA_uc002dji.2_Missense_Mutation_p.V154I|OTOA_uc010vbk.1_Missense_Mutation_p.V126I	273	GBM-76-4935-TP	p.V478I	G	GAGAAGTGCCGTCTCCCAGTA	NM_144672	NP_653273	21726417	Q7RTW8	OTOAN_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0414)	13	1433	+	A	A			Missense_Mutation	492						
OTOF	9381	broad.mit.edu	GRCh37	2	26705441	26705441	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0749-01	TCGA-06-0749-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000272371.2:c.1412A>G	p.Lys471Arg	p.K471R	ENST00000272371	NM_194248.2	471	aAg/aGg	0			1			C	K/R	uc002rhk.2	protein_coding	YES	CCDS1725.1			1412/5994									ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	c.(1411-1413)AAG>AGG			Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF32,SMART_domains:SM00239,Superfamily_domains:SSF49562	otoferlin isoform a				ENSP00000272371		14/47									COSM2151884	14/47	.		ENST00000272371	Transcript	1		cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	ENSG00000115155	g.chr2:26705441T>C	8515			MODERATE		1.11	low	getma.org/?cm=msa&ty=f&p=OTOF_HUMAN&rb=419&re=513&var=K471R	getma.org/pdb.php?prot=OTOF_HUMAN&from=419&to=513&var=K471R	getma.org/?cm=var&var=hg19,2,26705441,T,C&fts=all	K471R	--	--	1																																			1	1		possibly_damaging(0.539)	p.K471R	NM_194248	NP_919224		tolerated(0.09)	1	OTOF_HUMAN	OTOF	HGNC	Q9HC10	OTOF_HUMAN					14	1539	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		UPI000013D94D	471			Cytoplasmic (Potential).|C2 2.		SNV	OTOF,missense_variant,p.Lys471Arg,ENST00000272371,NM_194248.2;OTOF,missense_variant,p.Lys471Arg,ENST00000403946,NM_001287489.1;OTOF,upstream_gene_variant,,ENST00000402415,NM_194322.2;OTOF,upstream_gene_variant,,ENST00000338581,NM_004802.3;OTOF,upstream_gene_variant,,ENST00000339598,NM_194323.2;	uc002rhk.2	c.1412A>G	1539/7156	4	4			c.1412A>G						2	SNP	c.(1411-1413)AAG>AGG	42	42			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Broad	otoferlin isoform a			26705441		0.448	ENSG00000115155	11113	g.chr2:26705441T>C	cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	GBM(102;732 1451 20652 24062 31372)			GBM(102;732 1451 20652 24062 31372)			123.666352	KEEP	24	17	-1	75	38	24	17	-1	130.158886	75	38	0.274648	1	0	0	0	0	1	0	0	0	--	--		0	C				69	GBM-06-0749-TP	p.K471R	T	ATAGCTGCTCTTCTGCACTGA	NM_194248	NP_919224	26705441	Q9HC10	OTOF_HUMAN	0			14	1539	-	C	C	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Missense_Mutation	471			Cytoplasmic (Potential).|C2 2.			
OTOF	9381	broad.mit.edu	GRCh37	2	26686908	26686908	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs143889717		TCGA-06-0882-01	TCGA-06-0882-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000272371.2:c.5027G>A	p.Arg1676His	p.R1676H	ENST00000272371	NM_194248.2	1676	cGc/cAc	0	T:0.0002		1			T	R/H	uc002rhk.2	protein_coding	YES	CCDS1725.1			5027/5994									ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	c.(5026-5028)CGC>CAC			hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF32	otoferlin isoform a			T:0	ENSP00000272371		40/47	3.29E-05	0.000197					0.00111	6.06E-05	rs143889717,COSM2152368,COSM2152370,COSM2152369	40/47	.		ENST00000272371	Transcript	1		cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	ENSG00000115155	g.chr2:26686908C>T	8515			MODERATE		2.095	medium	getma.org/?cm=msa&ty=f&p=OTOF_HUMAN&rb=1578&re=1777&var=R1676H	NA	getma.org/?cm=var&var=hg19,2,26686908,C,T&fts=all	R1676H	--	--	1																																		OTOF_uc010yla.1_Missense_Mutation_p.R406H|OTOF_uc002rhh.2_Missense_Mutation_p.R909H|OTOF_uc002rhi.2_Missense_Mutation_p.R986H|OTOF_uc002rhj.2_Missense_Mutation_p.R909H	0,1,1,1	1		possibly_damaging(0.507)	p.R1676H	NM_194248	NP_919224		deleterious(0.04)	0,1,1,1	OTOF_HUMAN	OTOF	HGNC	Q9HC10	OTOF_HUMAN					40	5154	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		UPI000013D94D	1676			Cytoplasmic (Potential).		SNV	OTOF,missense_variant,p.Arg1676His,ENST00000272371,NM_194248.2;OTOF,missense_variant,p.Arg1676His,ENST00000403946,NM_001287489.1;OTOF,missense_variant,p.Arg986His,ENST00000402415,NM_194322.2;OTOF,missense_variant,p.Arg909His,ENST00000338581,NM_004802.3;OTOF,missense_variant,p.Arg909His,ENST00000339598,NM_194323.2;OTOF,non_coding_transcript_exon_variant,,ENST00000464574,;	uc002rhk.2	c.5027G>A	5154/7156	2	2			c.5027G>A						2	SNP	c.(5026-5028)CGC>CAC	26	26			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Broad	otoferlin isoform a			26686908		0.667	ENSG00000115155	11113	g.chr2:26686908C>T	cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	GBM(102;732 1451 20652 24062 31372)			GBM(102;732 1451 20652 24062 31372)			118.293158	KEEP	37	28	-1	144	87	37	28	-1	135.7712	144	87	0.222672	1	0	0	0	0	1	0	0	0	--	--		0	T			OTOF_uc010yla.1_Missense_Mutation_p.R406H|OTOF_uc002rhh.2_Missense_Mutation_p.R909H|OTOF_uc002rhi.2_Missense_Mutation_p.R986H|OTOF_uc002rhj.2_Missense_Mutation_p.R909H	77	GBM-06-0882-TP	p.R1676H	C	GCAGCCTGCGCGGGGGATGTC	NM_194248	NP_919224	26686908	Q9HC10	OTOF_HUMAN	0			40	5154	-	T	T	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Missense_Mutation	1676			Cytoplasmic (Potential).			
OTOP2	0	broad.mit.edu	GRCh37	17	72926423	72926423	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-5207-01	TCGA-28-5207-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331427.4:c.693C>T	p.Ala231=	p.A231=	ENST00000331427	NM_178160.2	231	gcC/gcT	0		T:0	1	T:0		T	A	uc010wrp.1	protein_coding	YES	CCDS11708.1			693/1689									ovary(3)|large_intestine(1)	4	c.(691-693)GCC>GCT			hmmpanther:PTHR21522:SF35,hmmpanther:PTHR21522,Pfam_domain:PF03189	otopetrin 2		T:0.001		ENSP00000332528	T:0	7-Jun	8.24E-05			0.00104		1.50E-05			rs369210322,COSM2157318	7-Jun	common_variant		ENST00000331427	Transcript		T:0.0002		integral to membrane		ENSG00000183034	g.chr17:72926423C>T	19657			LOW								--	--	1																																			0,1	1			p.A231A	NM_178160	NP_835454	T:0		0,1	OTOP2_HUMAN	OTOP2	HGNC	Q7RTS6	OTOP2_HUMAN					7	782	+	all_lung(278;0.172)|Lung NSC(278;0.207)		UPI000018F613	231					SNV	OTOP2,synonymous_variant,p.=,ENST00000331427,NM_178160.2;OTOP2,synonymous_variant,p.=,ENST00000580223,;OTOP2,downstream_gene_variant,,ENST00000584711,;	uc010wrp.1	c.693C>T	785/2147	2	2			c.693C>T						17	SNP	c.(691-693)GCC>GCT	22	22			ovary(3)|large_intestine(1)	4	Broad	otopetrin 2			72926423		0.562	ENSG00000183034	11116	g.chr17:72926423C>T		integral to membrane								346.764372	KEEP	63	62	-1	110	113	63	62	-1	350.975632	110	113	0.373333	1	0	0	0	0	0	0	1	0	--	--		0	T				216	GBM-28-5207-TP	p.A231A	C	GCAGCACGGCCGTCTGCCAGA	NM_178160	NP_835454	72926423	Q7RTS6	OTOP2_HUMAN	0			7	782	+	T	T	all_lung(278;0.172)|Lung NSC(278;0.207)		Silent	231						
OTOP2	0	broad.mit.edu	GRCh37	17	72923832	72923832	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-76-6282-01	TCGA-76-6282-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331427.4:c.583delC	p.Gln195AsnfsTer120	p.Q195Nfs*120	ENST00000331427	NM_178160.2	194	caC/ca	0			1			-	H/X	uc010wrp.1	protein_coding	YES	CCDS11708.1			582/1689									ovary(3)|large_intestine(1)	4	c.(580-582)CACfs			Low_complexity_(Seg):seg,hmmpanther:PTHR21522:SF35,hmmpanther:PTHR21522,Pfam_domain:PF03189	otopetrin 2				ENSP00000332528		7-May										7-May	.		ENST00000331427	Transcript				integral to membrane		ENSG00000183034	g.chr17:72923832delC	19657	1		HIGH								--	--	1																																		OTOP2_uc002jmf.1_3'UTR		1			p.H194fs	NM_178160	NP_835454				OTOP2_HUMAN	OTOP2	HGNC	Q7RTS6	OTOP2_HUMAN					6	671	+	all_lung(278;0.172)|Lung NSC(278;0.207)		UPI000018F613	194					deletion	OTOP2,frameshift_variant,p.Gln195AsnfsTer120,ENST00000331427,NM_178160.2;OTOP2,frameshift_variant,p.Gln195AsnfsTer120,ENST00000580223,;USH1G,upstream_gene_variant,,ENST00000319642,NM_173477.2,NM_001282489.1;OTOP2,non_coding_transcript_exon_variant,,ENST00000584711,;USH1G,upstream_gene_variant,,ENST00000579243,;	uc010wrp.1	c.582delC	674/2147	5	5			c.582delC						17	DEL	c.(580-582)CACfs	12	12			ovary(3)|large_intestine(1)	4	Broad	otopetrin 2			72923832		0.582	ENSG00000183034	11116	g.chr17:72923832delC		integral to membrane																					0.29	1	1	0	1	0	0	0	0	0	--	--		0	-			OTOP2_uc002jmf.1_3'UTR	278	GBM-76-6282-TP	p.H194fs	C	AATCTGTGCACCAATCCCACT	NM_178160	NP_835454	72923832	Q7RTS6	OTOP2_HUMAN	0			6	671	+	-	-	all_lung(278;0.172)|Lung NSC(278;0.207)		Frame_Shift_Del	194						
OTOP3	347741	broad.mit.edu	GRCh37	17	72937902	72937902	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328801.4:c.488G>A	p.Arg163Gln	p.R163Q	ENST00000328801	NM_001272005.1	163	cGg/cAg	0			1			A	R/Q	uc010wrr.1	protein_coding	YES	CCDS11709.1			488/1791									ovary(1)	1	c.(487-489)CGG>CAG			Transmembrane_helices:TMhelix,hmmpanther:PTHR21522,hmmpanther:PTHR21522:SF36	otopetrin 3				ENSP00000328090		7-Feb	3.30E-05					1.59E-05		0.000211	rs764432166,COSM2149934	7-Feb	.		ENST00000328801	Transcript				integral to membrane|intracellular	zinc ion binding	ENSG00000182938	g.chr17:72937902G>A	19658			MODERATE		1.155	low	getma.org/?cm=msa&ty=f&p=OTOP3_HUMAN&rb=137&re=260&var=R163Q	NA	getma.org/?cm=var&var=hg19,17,72937902,G,A&fts=all	R163Q	--	--	1																																		OTOP3_uc010wrq.1_Missense_Mutation_p.R145Q	0,1	1		benign(0.018)	p.R163Q	NM_178233	NP_839947		tolerated(0.09)	0,1	OTOP3_HUMAN	OTOP3	HGNC	Q7RTS5	OTOP3_HUMAN					2	488	+	all_lung(278;0.151)|Lung NSC(278;0.185)		UPI000019097F	163			Helical; (Potential).		SNV	OTOP3,missense_variant,p.Arg163Gln,ENST00000328801,NM_001272005.1,NM_178233.2;OTOP3,splice_region_variant,,ENST00000580749,;	uc010wrr.1	c.488G>A	488/2363	2	2			c.488G>A						17	SNP	c.(487-489)CGG>CAG	32	32			ovary(1)	1	Broad	otopetrin 3			72937902		0.687	ENSG00000182938	11117	g.chr17:72937902G>A		integral to membrane|intracellular	zinc ion binding							23.088421	KEEP	5	5	-1	15	7	5	5	-1	24.242127	15	7	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	A			OTOP3_uc010wrq.1_Missense_Mutation_p.R145Q	26	GBM-06-0154-TP	p.R163Q	G	CTCTGGGTGCGGGGTGAGTGT	NM_178233	NP_839947	72937902	Q7RTS5	OTOP3_HUMAN	0			2	488	+	A	A	all_lung(278;0.151)|Lung NSC(278;0.185)		Missense_Mutation	163			Helical; (Potential).			
OTOP3	347741	broad.mit.edu	GRCh37	17	72943010	72943010	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6388-01	TCGA-06-6388-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328801.4:c.1060G>A	p.Val354Ile	p.V354I	ENST00000328801	NM_001272005.1	354	Gtc/Atc	0	A:0		1			A	V/I	uc010wrr.1	protein_coding	YES	CCDS11709.1			1060/1791									ovary(1)	1	c.(1060-1062)GTC>ATC			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR21522,hmmpanther:PTHR21522:SF36,Pfam_domain:PF03189	otopetrin 3			A:0.0001	ENSP00000328090		7-Jun	5.77E-05	0.0001		0.000116		7.67E-05			rs372869932,COSM3403205	7-Jun	.		ENST00000328801	Transcript				integral to membrane|intracellular	zinc ion binding	ENSG00000182938	g.chr17:72943010G>A	19658			MODERATE		1.095	low	getma.org/?cm=msa&ty=f&p=OTOP3_HUMAN&rb=261&re=490&var=V354I	NA	getma.org/?cm=var&var=hg19,17,72943010,G,A&fts=all	V354I	--	--	1																																		OTOP3_uc010wrq.1_Missense_Mutation_p.V336I	0,1	1		benign(0.062)	p.V354I	NM_178233	NP_839947		tolerated(0.27)	0,1	OTOP3_HUMAN	OTOP3	HGNC	Q7RTS5	OTOP3_HUMAN					6	1060	+	all_lung(278;0.151)|Lung NSC(278;0.185)		UPI000019097F	354			Helical; (Potential).		SNV	OTOP3,missense_variant,p.Val354Ile,ENST00000328801,NM_001272005.1,NM_178233.2;HID1,downstream_gene_variant,,ENST00000425042,NM_030630.2;OTOP3,3_prime_UTR_variant,,ENST00000580749,;HID1,downstream_gene_variant,,ENST00000534480,;HID1,downstream_gene_variant,,ENST00000532395,;	uc010wrr.1	c.1060G>A	1060/2363	1	1			c.1060G>A						17	SNP	c.(1060-1062)GTC>ATC	61	61			ovary(1)	1	Broad	otopetrin 3			72943010		0.627	ENSG00000182938	11117	g.chr17:72943010G>A		integral to membrane|intracellular	zinc ion binding							70.9141	KEEP	13	16	-1	25	28	13	16	-1	71.99696	25	28	0.369863	1	0	0	0	0	1	0	0	0	--	--		0	A			OTOP3_uc010wrq.1_Missense_Mutation_p.V336I	104	GBM-06-6388-TP	p.V354I	G	AGGTGTGTGCGTCTTTGTGCT	NM_178233	NP_839947	72943010	Q7RTS5	OTOP3_HUMAN	0			6	1060	+	A	A	all_lung(278;0.151)|Lung NSC(278;0.185)		Missense_Mutation	354			Helical; (Potential).			
OTUD4	54726	broad.mit.edu	GRCh37	4	146077118	146077118	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0216-01	TCGA-06-0216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000454497.2:c.465G>A	p.Val155=	p.V155=	ENST00000454497	NM_001102653.1	155	gtG/gtA	0			1			T	V	uc003ika.3	protein_coding					660/3345									ovary(2)|breast(1)	3	c.(463-465)GTG>GTA			hmmpanther:PTHR12419,hmmpanther:PTHR12419:SF9	OTU domain containing 4 protein isoform 3				ENSP00000395487		21-Aug									COSM2150937,COSM2150938	21-Aug	.		ENST00000447906	Transcript					protein binding	ENSG00000164164	g.chr4:146077118C>T	24949			LOW								--	--	1																																		OTUD4_uc003ijz.3_Silent_p.V155V	1,1				p.V155V	NM_001102653	NP_001096123			1,1		OTUD4	HGNC	Q01804	OTUD4_HUMAN			G3V0I6_HUMAN,D6RA27_HUMAN		8	603	-	all_hematologic(180;0.151)		UPI0000E825C1	220					SNV	OTUD4,synonymous_variant,p.=,ENST00000454497,NM_001102653.1;OTUD4,synonymous_variant,p.=,ENST00000447906,;OTUD4,synonymous_variant,p.=,ENST00000514973,;OTUD4,downstream_gene_variant,,ENST00000296579,NM_017493.6;OTUD4,downstream_gene_variant,,ENST00000509620,;OTUD4,downstream_gene_variant,,ENST00000504501,;OTUD4,non_coding_transcript_exon_variant,,ENST00000455611,;OTUD4,non_coding_transcript_exon_variant,,ENST00000505976,;OTUD4,downstream_gene_variant,,ENST00000509985,;	uc003ika.3	c.465G>A	848/3829	1	1			c.465G>A						4	SNP	c.(463-465)GTG>GTA	12	12			ovary(2)|breast(1)	3	Broad	OTU domain containing 4 protein isoform 3			146077118		0.328	ENSG00000164164	11124	g.chr4:146077118C>T			protein binding							58.695545	KEEP	13	11	-1	16	8	13	11	-1	58.699295	16	8	0.511628	1	0	0	0	0	0	0	1	0	--	--		0	T			OTUD4_uc003ijz.3_Silent_p.V155V	51	GBM-06-0216-TP	p.V155V	C	TAAATCCATTCACATCAGCAG	NM_001102653	NP_001096123	146077118	Q01804	OTUD4_HUMAN	0			8	603	-	T	T	all_hematologic(180;0.151)		Silent	220						
OTUD4	0	broad.mit.edu	GRCh37	4	146059760	146059760	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2634-01	TCGA-32-2634-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000447906.2:c.2167C>T	p.Pro723Ser	p.P723S	ENST00000447906		723	Cct/Tct	0			1			A	P/S	uc003ika.3	protein_coding					2167/3345									ovary(2)|breast(1)	3	c.(1972-1974)CCT>TCT			hmmpanther:PTHR12419,hmmpanther:PTHR12419:SF9	OTU domain containing 4 protein isoform 3				ENSP00000395487		21/21									COSM3409072,COSM3409073	21/21	.		ENST00000447906	Transcript					protein binding	ENSG00000164164	g.chr4:146059760G>A	24949			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=OTUD4_HUMAN&rb=479&re=1111&var=P722S	NA	getma.org/?cm=var&var=hg19,4,146059760,G,A&fts=all	P722S	--	--	1																																		OTUD4_uc003ijz.3_Missense_Mutation_p.P657S	1,1			probably_damaging(0.999)	p.P658S	NM_001102653	NP_001096123		deleterious(0)	1,1		OTUD4	HGNC	Q01804	OTUD4_HUMAN			G3V0I6_HUMAN,D6RA27_HUMAN		21	2110	-	all_hematologic(180;0.151)		UPI0000E825C1	722					SNV	OTUD4,missense_variant,p.Pro658Ser,ENST00000454497,NM_001102653.1;OTUD4,missense_variant,p.Pro723Ser,ENST00000447906,;OTUD4,intron_variant,,ENST00000455611,;	uc003ika.3	c.1972C>T	2355/3829	2	2			c.1972C>T						4	SNP	c.(1972-1974)CCT>TCT	28	28			ovary(2)|breast(1)	3	Broad	OTU domain containing 4 protein isoform 3			146059760		0.488	ENSG00000164164	11124	g.chr4:146059760G>A			protein binding							145.293789	KEEP	20	32	-1	46	42	20	32	-1	147.077991	46	42	0.373016	1	0	0	0	0	1	0	0	0	--	--		0	A			OTUD4_uc003ijz.3_Missense_Mutation_p.P657S	241	GBM-32-2634-TP	p.P658S	G	TGGTGCAGAGGGTACAGGTAA	NM_001102653	NP_001096123	146059760	Q01804	OTUD4_HUMAN	0			21	2110	-	A	A	all_hematologic(180;0.151)		Missense_Mutation	722						
OTUD5	55593	broad.mit.edu	GRCh37	X	48814319	48814319	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01	TCGA-06-0166-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000156084.4:c.514G>A	p.Gly172Ser	p.G172S	ENST00000156084	NM_017602.3	172	Ggc/Agc	0			1			T	G/S	uc004dlu.2	protein_coding	YES	CCDS14313.1			514/1716									pancreas(1)	1	c.(514-516)GGC>AGC			hmmpanther:PTHR12419,hmmpanther:PTHR12419:SF4	OTU domain containing 5 isoform a				ENSP00000156084		9-Jan	1.67E-05							0.000192	rs781832739,COSM3406428,COSM3406429	9-Jan	.		ENST00000156084	Transcript			negative regulation of type I interferon production		cysteine-type peptidase activity	ENSG00000068308	g.chrX:48814319C>T	25402			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=OTUD5_HUMAN&rb=140&re=218&var=G172S	getma.org/pdb.php?prot=OTUD5_HUMAN&from=140&to=218&var=G172S	getma.org/?cm=var&var=hg19,X,48814319,C,T&fts=all	G172S	--	--	1																																		OTUD5_uc004dlt.3_Missense_Mutation_p.G172S|OTUD5_uc004dlv.2_Missense_Mutation_p.G172S|OTUD5_uc011mmp.1_Intron	0,1,1	1		benign(0.137)	p.G172S	NM_017602	NP_060072		tolerated(0.21)	0,1,1	OTUD5_HUMAN	OTUD5	HGNC	Q96G74	OTUD5_HUMAN			H7BZQ3_HUMAN		1	575	-			UPI000006ED2A	172			Gly-rich.		SNV	OTUD5,missense_variant,p.Gly172Ser,ENST00000156084,NM_017602.3;OTUD5,missense_variant,p.Gly172Ser,ENST00000376488,;OTUD5,missense_variant,p.Gly172Ser,ENST00000396743,NM_001136157.1,NM_001136158.1;OTUD5,missense_variant,p.Gly45Ser,ENST00000455452,;OTUD5,intron_variant,,ENST00000428668,NM_001136159.1;KCND1,downstream_gene_variant,,ENST00000218176,NM_004979.4;KCND1,downstream_gene_variant,,ENST00000376477,;RNU6-722P,downstream_gene_variant,,ENST00000411377,;OTUD5,upstream_gene_variant,,ENST00000484499,;	uc004dlu.2	c.514G>A	575/2740	2	2			c.514G>A						23	SNP	c.(514-516)GGC>AGC	48	48			pancreas(1)	1	Broad	OTU domain containing 5 isoform a			48814319		0.687	ENSG00000068308	11125	g.chrX:48814319C>T	negative regulation of type I interferon production		cysteine-type peptidase activity							6.248393	KEEP	0	3	-1	6	1	0	3	-1	6.3958	6	1	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	T			OTUD5_uc004dlt.3_Missense_Mutation_p.G172S|OTUD5_uc004dlv.2_Missense_Mutation_p.G172S|OTUD5_uc011mmp.1_Intron	31	GBM-06-0166-TP	p.G172S	C	TAGCCTGCGCCGACCTCCTCA	NM_017602	NP_060072	48814319	Q96G74	OTUD5_HUMAN	0			1	575	-	T	T			Missense_Mutation	172			Gly-rich.			
OTUD5	0	broad.mit.edu	GRCh37	X	48814296	48814296	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-5136-01	TCGA-26-5136-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000156084.4:c.537C>T	p.Asp179=	p.D179=	ENST00000156084	NM_017602.3	179	gaC/gaT	0		A:0	1	A:0		A	D	uc004dlu.2	protein_coding	YES	CCDS14313.1			537/1716									pancreas(1)	1	c.(535-537)GAC>GAT			hmmpanther:PTHR12419,hmmpanther:PTHR12419:SF4	OTU domain containing 5 isoform a		A:0		ENSP00000156084	A:0.001	9-Jan	4.96E-05					4.37E-05			rs782248683,COSM3406426,COSM3406427	9-Jan	.		ENST00000156084	Transcript		A:0.0003	negative regulation of type I interferon production		cysteine-type peptidase activity	ENSG00000068308	g.chrX:48814296G>A	25402			LOW								--	--	1																																		OTUD5_uc004dlt.3_Silent_p.D179D|OTUD5_uc004dlv.2_Silent_p.D179D|OTUD5_uc011mmp.1_Intron	0,1,1	1			p.D179D	NM_017602	NP_060072	A:0		0,1,1	OTUD5_HUMAN	OTUD5	HGNC	Q96G74	OTUD5_HUMAN			H7BZQ3_HUMAN		1	598	-			UPI000006ED2A	179					SNV	OTUD5,synonymous_variant,p.=,ENST00000156084,NM_017602.3;OTUD5,synonymous_variant,p.=,ENST00000376488,;OTUD5,synonymous_variant,p.=,ENST00000396743,NM_001136157.1,NM_001136158.1;OTUD5,synonymous_variant,p.=,ENST00000455452,;OTUD5,intron_variant,,ENST00000428668,NM_001136159.1;KCND1,downstream_gene_variant,,ENST00000218176,NM_004979.4;KCND1,downstream_gene_variant,,ENST00000376477,;RNU6-722P,downstream_gene_variant,,ENST00000411377,;OTUD5,non_coding_transcript_exon_variant,,ENST00000484499,;	uc004dlu.2	c.537C>T	598/2740	1	1			c.537C>T						23	SNP	c.(535-537)GAC>GAT	63	63			pancreas(1)	1	Broad	OTU domain containing 5 isoform a			48814296		0.677	ENSG00000068308	11125	g.chrX:48814296G>A	negative regulation of type I interferon production		cysteine-type peptidase activity							6.817697	KEEP	3	3	-1	6	7	3	3	-1	7.681709	6	7	0.230769	1	0	0	0	0	0	0	1	0	--	--		0	A			OTUD5_uc004dlt.3_Silent_p.D179D|OTUD5_uc004dlv.2_Silent_p.D179D|OTUD5_uc011mmp.1_Intron	185	GBM-26-5136-TP	p.D179D	G	CCTCATACTCGTCCTCACTGT	NM_017602	NP_060072	48814296	Q96G74	OTUD5_HUMAN	0			1	598	-	A	A			Silent	179						
OTUD5	55593		GRCh37	X	48781329	48781329	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000156084.4:c.1279C>G	p.Pro427Ala	p.P427A	ENST00000156084	NM_017602.3	427	Ccc/Gcc	0																																																																																																																																																																																																																																												
OTUD6A	139562	broad.mit.edu	GRCh37	X	69282717	69282717	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0644-01	TCGA-06-0644-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338352.2:c.343G>C	p.Ala115Pro	p.A115P	ENST00000338352	NM_207320.1	115	Gct/Cct	0			1			C	A/P	uc004dxu.1	protein_coding	YES	CCDS14395.1			343/867									lung(1)|skin(1)	2	c.(343-345)GCT>CCT			hmmpanther:PTHR12419,hmmpanther:PTHR12419:SF13	OTU domain containing 6A				ENSP00000339389		1-Jan									COSM3406546	1-Jan	.		ENST00000338352	Transcript						ENSG00000189401	g.chrX:69282717G>C	32312			MODERATE		2.44	medium	getma.org/?cm=msa&ty=f&p=OTU6A_HUMAN&rb=1&re=146&var=A115P	NA	getma.org/?cm=var&var=hg19,X,69282717,G,C&fts=all	A115P	--	--	1																																			1	1		possibly_damaging(0.864)	p.A115P	NM_207320	NP_997203		tolerated(0.06)	1	OTU6A_HUMAN	OTUD6A	HGNC	Q7L8S5	OTU6A_HUMAN					1	377	+			UPI00000712B7	115					SNV	OTUD6A,missense_variant,p.Ala115Pro,ENST00000338352,NM_207320.1;	uc004dxu.1	c.343G>C	377/1689	3	3			c.343G>C						23	SNP	c.(343-345)GCT>CCT	9	9			lung(1)|skin(1)	2	Broad	OTU domain containing 6A			69282717		0.617	ENSG00000189401	11126	g.chrX:69282717G>C										21.250266	KEEP	2	4	-1	4	2	2	4	-1	21.250266	4	2	0.5	1	0	0	0	0	1	0	0	0	--	--		0	C				58	GBM-06-0644-TP	p.A115P	G	CATCTTCCAGGCTGAGATGTC	NM_207320	NP_997203	69282717	Q7L8S5	OTU6A_HUMAN	0			1	377	+	C	C			Missense_Mutation	115						
OTUD6A	0	broad.mit.edu	GRCh37	X	69282974	69282974	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-1823-01	TCGA-14-1823-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338352.2:c.600C>T	p.Tyr200=	p.Y200=	ENST00000338352	NM_207320.1	200	taC/taT	0			1			T	Y	uc004dxu.1	protein_coding	YES	CCDS14395.1			600/867									lung(1)|skin(1)	2	c.(598-600)TAC>TAT			Pfam_domain:PF02338,PROSITE_profiles:PS50802,hmmpanther:PTHR12419,hmmpanther:PTHR12419:SF13,Superfamily_domains:SSF54001	OTU domain containing 6A				ENSP00000339389		1-Jan									COSM1626062	1-Jan	.		ENST00000338352	Transcript						ENSG00000189401	g.chrX:69282974C>T	32312			LOW								--	--	1																																			1	1			p.Y200Y	NM_207320	NP_997203			1	OTU6A_HUMAN	OTUD6A	HGNC	Q7L8S5	OTU6A_HUMAN					1	634	+			UPI00000712B7	200			OTU.		SNV	OTUD6A,synonymous_variant,p.=,ENST00000338352,NM_207320.1;	uc004dxu.1	c.600C>T	634/1689	2	2			c.600C>T						23	SNP	c.(598-600)TAC>TAT	32	32			lung(1)|skin(1)	2	Broad	OTU domain containing 6A			69282974		0.622	ENSG00000189401	11126	g.chrX:69282974C>T										3.904919	KEEP	6	4	-1	47	45	6	4	-1	17.914755	47	45	0.094118	1	0	0	0	0	0	0	1	0	--	--		0	T				147	GBM-14-1823-TP	p.Y200Y	C	CCTTCGGCTACGACGACTTCA	NM_207320	NP_997203	69282974	Q7L8S5	OTU6A_HUMAN	0			1	634	+	T	T			Silent	200			OTU.			
OTUD7A	0	broad.mit.edu	GRCh37	15	31776752	31776752	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01	TCGA-14-0789-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307050.4:c.1526G>A	p.Arg509His	p.R509H	ENST00000307050	NM_130901.1	509	cGc/cAc	0			1			T	R/H	uc001zfq.2	protein_coding	YES	CCDS10026.1			1526/2781									pancreas(1)|skin(1)	2	c.(1525-1527)CGC>CAC			hmmpanther:PTHR13367:SF9,hmmpanther:PTHR13367	OTU domain containing 7A				ENSP00000305926		11-Nov									COSM3401669	11-Nov	.		ENST00000307050	Transcript				cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	ENSG00000169918	g.chr15:31776752C>T	20718			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=OTU7A_HUMAN&rb=369&re=568&var=R509H	NA	getma.org/?cm=var&var=hg19,15,31776752,C,T&fts=all	R509H	--	--	1																																		OTUD7A_uc001zfr.2_Missense_Mutation_p.R516H	1	1		probably_damaging(0.994)	p.R509H	NM_130901	NP_570971		deleterious(0)	1	OTU7A_HUMAN	OTUD7A	HGNC	Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	H0YN66_HUMAN		11	1619	-		all_lung(180;1.6e-09)	UPI0000073AA5	509			Nuclear localization signal (Potential).		SNV	OTUD7A,missense_variant,p.Arg516His,ENST00000382902,;OTUD7A,missense_variant,p.Arg509His,ENST00000307050,NM_130901.1;	uc001zfq.2	c.1526G>A	1619/3042	1	1			c.1526G>A						15	SNP	c.(1525-1527)CGC>CAC	1	1			pancreas(1)|skin(1)	2	Broad	OTU domain containing 7A			31776752		0.483	ENSG00000169918	11128	g.chr15:31776752C>T		cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding							65.937515	KEEP	13	10	-1	23	23	13	10	-1	66.832812	23	23	0.370968	1	0	0	0	0	1	0	0	0	--	--		0	T			OTUD7A_uc001zfr.2_Missense_Mutation_p.R516H	136	GBM-14-0789-TP	p.R509H	C	GGAGTCGGCGCGCGTcttgtc	NM_130901	NP_570971	31776752	Q8TE49	OTU7A_HUMAN	0		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	11	1619	-	T	T		all_lung(180;1.6e-09)	Missense_Mutation	509			Nuclear localization signal (Potential).			
OTX2	5015		GRCh37	14	57269073	57269073	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000339475.5:c.274G>A	p.Val92Ile	p.V92I	ENST00000339475	NM_001270524.1	92	Gta/Ata	0																																																																																																																																																																																																																																												
OVCH1	341350	broad.mit.edu	GRCh37	12	29628035	29628035	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01	TCGA-06-0195-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318184.5:c.1559G>A	p.Arg520His	p.R520H	ENST00000318184	NM_183378.2	520	cGt/cAt	0	T:0		1			T	R/H	uc001rix.1	protein_coding	YES				1559/3405								p.R520H(1)	ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	c.(1558-1560)CGT>CAT			PROSITE_profiles:PS01180,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854	ovochymase 1 precursor			T:0.0001	ENSP00000326708		14/28	2.50E-05					0.000128			rs376772357,COSM84143	14/28	.		ENST00000318184	Transcript			proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	ENSG00000187950	g.chr12:29628035C>T	23080			MODERATE		0.165	neutral	getma.org/?cm=msa&ty=f&p=OVCH1_HUMAN&rb=419&re=528&var=R520H	getma.org/pdb.php?prot=OVCH1_HUMAN&from=419&to=528&var=R520H	getma.org/?cm=var&var=hg19,12,29628035,C,T&fts=all	R520H	--	--	1																																			0,1	1		benign(0.001)	p.R520H	NM_183378	NP_899234		tolerated(0.08)	0,1	OVCH1_HUMAN	OVCH1	HGNC	Q7RTY7	OVCH1_HUMAN					14	1559	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		UPI000040640A	520			CUB 2.		SNV	OVCH1,missense_variant,p.Arg520His,ENST00000318184,NM_183378.2;OVCH1-AS1,intron_variant,,ENST00000551108,;OVCH1-AS1,intron_variant,,ENST00000549411,;	uc001rix.1	c.1559G>A	1559/3405	2	2			c.1559G>A						12	SNP	c.(1558-1560)CGT>CAT	24	24		p.R520H(1)	ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Broad	ovochymase 1 precursor			29628035		0.338	ENSG00000187950	11133	g.chr12:29628035C>T	proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity							6.450198	KEEP	2	0	-1	1	1	2	0	-1	6.450197	1	1	0.5	1	0	0	0	0	1	0	0	0	--	--		0	T				45	GBM-06-0195-TP	p.R520H	C	GCCTTGTAAACGATTTTTACC	NM_183378	NP_899234	29628035	Q7RTY7	OVCH1_HUMAN	0			14	1559	-	T	T	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		Missense_Mutation	520			CUB 2.			
OVCH1	341350	broad.mit.edu	GRCh37	12	29628100	29628100	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318184.5:c.1494C>T	p.Thr498=	p.T498=	ENST00000318184	NM_183378.2	498	acC/acT	0			1			A	T	uc001rix.1	protein_coding	YES				1494/3405									ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	c.(1492-1494)ACC>ACT			PROSITE_profiles:PS01180,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854	ovochymase 1 precursor				ENSP00000326708		14/28									COSM3398652	14/28	.		ENST00000318184	Transcript			proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	ENSG00000187950	g.chr12:29628100G>A	23080			LOW								--	--	1																																			1	1			p.T498T	NM_183378	NP_899234			1	OVCH1_HUMAN	OVCH1	HGNC	Q7RTY7	OVCH1_HUMAN					14	1494	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		UPI000040640A	498			CUB 2.		SNV	OVCH1,synonymous_variant,p.=,ENST00000318184,NM_183378.2;OVCH1-AS1,intron_variant,,ENST00000551108,;OVCH1-AS1,intron_variant,,ENST00000549411,;	uc001rix.1	c.1494C>T	1494/3405	2	2			c.1494C>T						12	SNP	c.(1492-1494)ACC>ACT	30	30			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Broad	ovochymase 1 precursor			29628100		0.299	ENSG00000187950	11133	g.chr12:29628100G>A	proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity							17.142413	KEEP	2	5	-1	7	8	2	5	-1	17.716279	7	8	0.315789	1	0	0	0	0	0	0	1	0	--	--		0	A				46	GBM-06-0209-TP	p.T498T	G	TTGAAGTGATGGTCAACATTC	NM_183378	NP_899234	29628100	Q7RTY7	OVCH1_HUMAN	0			14	1494	-	A	A	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		Silent	498			CUB 2.			
OVCH1	341350		GRCh37	12	29630051	29630051	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000318184.5:c.1361A>G	p.Glu454Gly	p.E454G	ENST00000318184	NM_183378.2	454	gAg/gGg	0																																																																																																																																																																																																																																												
OVGP1	5016	broad.mit.edu	GRCh37	1	111957411	111957411	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs150120731	byFrequency	TCGA-06-5413-01	TCGA-06-5413-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369732.3:c.1712G>A	p.Arg571His	p.R571H	ENST00000369732	NM_002557.3	571	cGt/cAt	0	T:0	T:0	1	T:0.0014		T	R/H	uc001eba.2	protein_coding	YES	CCDS834.1			1712/2037									ovary(4)|large_intestine(1)	5	c.(1711-1713)CGT>CAT				oviductal glycoprotein 1 precursor		T:0	T:0.0008	ENSP00000358747	T:0.001	11-Nov	0.000445		0.000433			0.000727		7.04E-05	rs150120731,COSM1560103,COSM1560104	11-Nov	common_variant		ENST00000369732	Transcript		T:0.0004	chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	ENSG00000085465	g.chr1:111957411C>T	8524			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=OVGP1_HUMAN&rb=411&re=677&var=R571H	NA	getma.org/?cm=var&var=hg19,1,111957411,C,T&fts=all	R571H	--	--	1																																		OVGP1_uc001eaz.2_Missense_Mutation_p.R533H|OVGP1_uc010owb.1_Missense_Mutation_p.R219H	0,1,1	1		benign(0.185)	p.R571H	NM_002557	NP_002548	T:0	tolerated_low_confidence(0.53)	0,1,1	OVGP1_HUMAN	OVGP1	HGNC	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	Q9UJZ3_HUMAN		11	1768	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	UPI0000130C53	571					SNV	OVGP1,missense_variant,p.Arg571His,ENST00000369732,NM_002557.3;OVGP1,downstream_gene_variant,,ENST00000540696,;OVGP1,downstream_gene_variant,,ENST00000481495,;OVGP1,downstream_gene_variant,,ENST00000494622,;	uc001eba.2	c.1712G>A	1768/2243	2	2			c.1712G>A						1	SNP	c.(1711-1713)CGT>CAT	32	32			ovary(4)|large_intestine(1)	5	Broad	oviductal glycoprotein 1 precursor			111957411		0.527	ENSG00000085465	11135	g.chr1:111957411C>T	chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity							-28.320033	KEEP	1	3	-1	63	98	1	3	-1	7.081392	63	98	0.027778	1	0	0	0	0	1	0	0	0	--	--		0	T			OVGP1_uc001eaz.2_Missense_Mutation_p.R533H|OVGP1_uc010owb.1_Missense_Mutation_p.R219H	96	GBM-06-5413-TP	p.R571H	C	CACCTTTTCACGGGCCACAGC	NM_002557	NP_002548	111957411	Q12889	OVGP1_HUMAN	0		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	11	1768	-	T	T		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	Missense_Mutation	571						
OVOL1	0	broad.mit.edu	GRCh37	11	65561705	65561705	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335987.3:c.304C>T	p.Arg102Cys	p.R102C	ENST00000335987	NM_004561.3	102	Cgc/Tgc	0			1			T	R/C	uc001ofp.2	protein_coding	YES	CCDS8112.1			304/804									central_nervous_system(1)	1	c.(304-306)CGC>TGC			hmmpanther:PTHR10032:SF131,hmmpanther:PTHR10032	OVO-like 1 binding protein				ENSP00000337862		4-Feb	4.12E-05		8.65E-05			6.07E-05			rs547964049,COSM3398049	4-Feb	.		ENST00000335987	Transcript			transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000172818	g.chr11:65561705C>T	8525			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=OVOL1_HUMAN&rb=88&re=117&var=R102C	NA	getma.org/?cm=var&var=hg19,11,65561705,C,T&fts=all	R102C	--	--	1																																		OVOL1_uc001ofq.2_Missense_Mutation_p.R40C	0,1	1		benign(0.312)	p.R102C	NM_004561	NP_004552		deleterious(0)	0,1	OVOL1_HUMAN	OVOL1	HGNC	O14753	OVOL1_HUMAN		READ - Rectum adenocarcinoma(159;0.17)	G3V1B0_HUMAN		2	620	+			UPI00001D70C0	102					SNV	OVOL1,missense_variant,p.Arg102Cys,ENST00000335987,NM_004561.3;OVOL1,missense_variant,p.Arg40Cys,ENST00000532448,;RP11-770G2.5,downstream_gene_variant,,ENST00000531155,;OVOL1-AS1,upstream_gene_variant,,ENST00000532454,;OVOL1-AS1,upstream_gene_variant,,ENST00000534178,;OVOL1-AS1,upstream_gene_variant,,ENST00000527453,;OVOL1,downstream_gene_variant,,ENST00000531907,;	uc001ofp.2	c.304C>T	656/3034	2	2			c.304C>T						11	SNP	c.(304-306)CGC>TGC	30	30			central_nervous_system(1)	1	Broad	OVO-like 1 binding protein			65561705		0.612	ENSG00000172818	11136	g.chr11:65561705C>T	transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							80.349024	KEEP	12	20	-1	28	30	12	20	-1	82.009951	28	30	0.349398	1	0	0	0	0	1	0	0	0	--	--		0	T			OVOL1_uc001ofq.2_Missense_Mutation_p.R40C	177	GBM-19-5959-TP	p.R102C	C	TGGCTTCCTGCGCACCAAGAT	NM_004561	NP_004552	65561705	O14753	OVOL1_HUMAN	0		READ - Rectum adenocarcinoma(159;0.17)	2	620	+	T	T			Missense_Mutation	102						
OXCT2	64064		GRCh37	1	40235523	40235523	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000327582.5:c.1405G>A	p.Glu469Lys	p.E469K	ENST00000327582	NM_022120.1	469	Gag/Aag	0																																																																																																																																																																																																																																												
OXR1	0	broad.mit.edu	GRCh37	8	107722899	107722899	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-32-1979-01	TCGA-32-1979-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000442977.2:c.1677G>T	p.Leu559Phe	p.L559F	ENST00000442977	NM_001198532.1	559	ttG/ttT	0			1			T	L/F	uc011lht.1	protein_coding	YES	CCDS56548.1			1677/2625										0	c.(1675-1677)TTG>TTT			hmmpanther:PTHR23354,hmmpanther:PTHR23354:SF69	oxidation resistance 1 isoform 1				ENSP00000405424		16-Sep									COSM3412671,COSM3412670,COSM3412668,COSM3412669	16-Sep	.		ENST00000442977	Transcript			cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		ENSG00000164830	g.chr8:107722899G>T	15822			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=OXR1_HUMAN&rb=475&re=674&var=L559F	NA	getma.org/?cm=var&var=hg19,8,107722899,G,T&fts=all	L559F	--	--	1																																		OXR1_uc003ymf.2_Missense_Mutation_p.L558F|OXR1_uc011lhu.1_Missense_Mutation_p.L551F|OXR1_uc010mcg.2_Intron|OXR1_uc010mch.2_Missense_Mutation_p.L256F	1,1,1,1	1		probably_damaging(0.999)	p.L559F	NM_018002	NP_060472		deleterious(0)	1,1,1,1	OXR1_HUMAN	OXR1	HGNC	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		E9PLW2_HUMAN		9	1776	+			UPI0001914BEA	559					SNV	OXR1,missense_variant,p.Leu558Phe,ENST00000445937,NM_018002.3;OXR1,missense_variant,p.Leu558Phe,ENST00000517566,NM_001198533.1;OXR1,missense_variant,p.Leu551Phe,ENST00000312046,NM_181354.4;OXR1,missense_variant,p.Leu48Phe,ENST00000452423,;OXR1,missense_variant,p.Leu558Phe,ENST00000531443,;OXR1,missense_variant,p.Leu559Phe,ENST00000442977,NM_001198532.1;OXR1,missense_variant,p.Leu272Phe,ENST00000519415,;OXR1,downstream_gene_variant,,ENST00000497705,;OXR1,intron_variant,,ENST00000435082,;OXR1,downstream_gene_variant,,ENST00000438229,;	uc011lht.1	c.1677G>T	1776/2956	2	2			c.1677G>T						8	SNP	c.(1675-1677)TTG>TTT	35	35				0	Broad	oxidation resistance 1 isoform 1			107722899		0.358	ENSG00000164830	11144	g.chr8:107722899G>T	cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion								6.930602	KEEP	1	2	0.333333333	9	5	1	2	0.333333333	8.382061	9	5	0.1875	1	0	0	0	0	1	0	0	0	--	--		0	T			OXR1_uc003ymf.2_Missense_Mutation_p.L558F|OXR1_uc011lhu.1_Missense_Mutation_p.L551F|OXR1_uc010mcg.2_Intron|OXR1_uc010mch.2_Missense_Mutation_p.L256F	230	GBM-32-1979-TP	p.L559F	G	ATAAGTTCTTGTGTCTCAGAG	NM_018002	NP_060472	107722899	Q8N573	OXR1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		9	1776	+	T	T			Missense_Mutation	559						
OXSM	0	broad.mit.edu	GRCh37	3	25832620	25832620	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-26-5136-01	TCGA-26-5136-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000280701.3:c.109A>G	p.Ile37Val	p.I37V	ENST00000280701	NM_017897.2	37	Ata/Gta	0	G:0.0002	G:0	1	G:0.0014		G	I/V	uc003cdn.2	protein_coding	YES	CCDS2643.1			109/1380									ovary(1)|breast(1)	2	c.(109-111)ATA>GTA			hmmpanther:PTHR11712,PIRSF_domain:PIRSF000447	3-oxoacyl-ACP synthase, mitochondrial isoform 1		G:0	G:0	ENSP00000280701	G:0	3-Feb	3.29E-05	0.000288	8.64E-05						rs370766105,COSM2157114	3-Feb	.		ENST00000280701	Transcript		G:0.0002	acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	ENSG00000151093	g.chr3:25832620A>G	26063			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=OXSM_HUMAN&rb=1&re=40&var=I37V	NA	getma.org/?cm=var&var=hg19,3,25832620,A,G&fts=all	I37V	--	--	1																																		NGLY1_uc011awo.1_5'Flank|OXSM_uc011awp.1_5'UTR|OXSM_uc010hfh.2_Missense_Mutation_p.I37V	0,1	1		benign(0.001)	p.I37V	NM_017897	NP_060367	G:0	tolerated(0.63)	0,1	OXSM_HUMAN	OXSM	HGNC	Q9NWU1	OXSM_HUMAN			C9JQQ2_HUMAN,C9J2G3_HUMAN,B4E3Q7_HUMAN		2	216	+			UPI000004713F	37					SNV	OXSM,missense_variant,p.Ile37Val,ENST00000280701,NM_017897.2;OXSM,missense_variant,p.Ile37Val,ENST00000420173,NM_001145391.1;OXSM,missense_variant,p.Ile37Val,ENST00000452098,;OXSM,missense_variant,p.Ile37Val,ENST00000428266,;NGLY1,upstream_gene_variant,,ENST00000417874,NM_001145294.1;OXSM,non_coding_transcript_exon_variant,,ENST00000449808,;OXSM,downstream_gene_variant,,ENST00000464688,;OXSM,missense_variant,p.Ile37Val,ENST00000448177,;	uc003cdn.2	c.109A>G	208/1519	3	3			c.109A>G						3	SNP	c.(109-111)ATA>GTA	55	55			ovary(1)|breast(1)	2	Broad	3-oxoacyl-ACP synthase, mitochondrial isoform 1			25832620		0.428	ENSG00000151093	11145	g.chr3:25832620A>G	acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity							503.836959	KEEP	81	74	-1	119	121	81	74	-1	507.553265	119	121	0.391061	1	0	0	0	0	1	0	0	0	--	--		0	G			NGLY1_uc011awo.1_5'Flank|OXSM_uc011awp.1_5'UTR|OXSM_uc010hfh.2_Missense_Mutation_p.I37V	185	GBM-26-5136-TP	p.I37V	A	AACTGTGCCAATATCCAGATT	NM_017897	NP_060367	25832620	Q9NWU1	OXSM_HUMAN	0			2	216	+	G	G			Missense_Mutation	37						
OXSR1	0	broad.mit.edu	GRCh37	3	38266149	38266149	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-5960-01	TCGA-19-5960-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311806.3:c.790T>C	p.Phe264Leu	p.F264L	ENST00000311806	NM_005109.2	264	Ttt/Ctt	0			1			C	F/L	uc003chy.2	protein_coding	YES	CCDS2675.1			790/1584									skin(1)	1	c.(790-792)TTT>CTT			Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF202,SMART_domains:SM00220,Superfamily_domains:SSF56112	oxidative-stress responsive 1				ENSP00000311713		18-Aug									COSM3408631,COSM3408632	18-Aug	.		ENST00000311806	Transcript			intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	ENSG00000172939	g.chr3:38266149T>C	8508			MODERATE		0.59	neutral	getma.org/?cm=msa&ty=f&p=OXSR1_HUMAN&rb=17&re=291&var=F264L	getma.org/pdb.php?prot=OXSR1_HUMAN&from=17&to=291&var=F264L	getma.org/?cm=var&var=hg19,3,38266149,T,C&fts=all	F264L	--	--	1																																		OXSR1_uc010hhb.2_Missense_Mutation_p.F198L|OXSR1_uc010hha.1_Missense_Mutation_p.F196L	1,1	1		benign(0.276)	p.F264L	NM_005109	NP_005100		deleterious(0.02)	1,1	OXSR1_HUMAN	OXSR1	HGNC	O95747	OXSR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)			8	1132	+			UPI000006E0D0	264			Protein kinase.		SNV	OXSR1,missense_variant,p.Phe264Leu,ENST00000311806,NM_005109.2;OXSR1,missense_variant,p.Phe264Leu,ENST00000446845,;OXSR1,3_prime_UTR_variant,,ENST00000426620,;OXSR1,non_coding_transcript_exon_variant,,ENST00000483695,;	uc003chy.2	c.790T>C	1162/4553	3	3			c.790T>C						3	SNP	c.(790-792)TTT>CTT	64	64			skin(1)	1	Broad	oxidative-stress responsive 1			38266149		0.313	ENSG00000172939	11146	g.chr3:38266149T>C	intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			232			232	125.480636	KEEP	20	15	-1	13	16	20	15	-1	125.661185	13	16	0.557377	1	0	0	0	0	1	0	0	0	--	--		0	C			OXSR1_uc010hhb.2_Missense_Mutation_p.F198L|OXSR1_uc010hha.1_Missense_Mutation_p.F196L	178	GBM-19-5960-TP	p.F264L	T	TGGAAAATCATTTAGAAAAAT	NM_005109	NP_005100	38266149	O95747	OXSR1_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	8	1132	+	C	C			Missense_Mutation	264			Protein kinase.			
P2RX2	0	broad.mit.edu	GRCh37	12	133197851	133197853	+	inframe_deletion	In_Frame_Del	DEL	TAC	TAC	-			TCGA-08-0386-01	TCGA-08-0386-01	TAC	TAC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389110.3:c.919_921delTAC	p.Tyr307del	p.Y307del	ENST00000389110	NM_170682.2	306	TAC/-	0			1			-	Y/-	uc001ukj.1	protein_coding		CCDS31931.1			916-918/1416										0	c.(916-918)TACdel			Prints_domain:PR01307,Pfam_domain:PF00864,Gene3D:3h9vA02,TIGRFAM_domain:TIGR00863,hmmpanther:PTHR10125,hmmpanther:PTHR10125:SF4	purinergic receptor P2X2 isoform A				ENSP00000373762		11-Sep										11-Sep	.		ENST00000389110	Transcript	1		positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	ENSG00000187848	g.chr12:133197851_133197853delTAC	15459	3		MODERATE								--	--	1																																		P2RX2_uc001uki.1_In_Frame_Del_p.Y307del|P2RX2_uc001ukk.1_In_Frame_Del_p.Y307del|P2RX2_uc001ukl.1_In_Frame_Del_p.Y283del|P2RX2_uc001ukm.1_In_Frame_Del_p.Y235del|P2RX2_uc001ukn.1_In_Frame_Del_p.Y215del|P2RX2_uc009zyt.1_In_Frame_Del_p.Y307del|P2RX2_uc001uko.1_In_Frame_Del_p.Y273del					p.Y307del	NM_170682	NP_733782				P2RX2_HUMAN	P2RX2	HGNC	Q9UBL9	P2RX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)			9	916_918	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)	UPI0000130FF3	307			Extracellular (Potential).		deletion	P2RX2,inframe_deletion,p.Tyr307del,ENST00000389110,NM_170682.2,NM_170683.2,NM_174873.1;P2RX2,inframe_deletion,p.Tyr307del,ENST00000343948,NM_001282165.1;P2RX2,inframe_deletion,p.Tyr283del,ENST00000350048,NM_016318.2;P2RX2,inframe_deletion,p.Tyr307del,ENST00000348800,;P2RX2,inframe_deletion,p.Tyr235del,ENST00000352418,NM_012226.3;P2RX2,inframe_deletion,p.Tyr215del,ENST00000351222,NM_174872.1;P2RX2,inframe_deletion,p.Tyr273del,ENST00000449132,NM_001282164.1;POLE,downstream_gene_variant,,ENST00000320574,NM_006231.2;POLE,downstream_gene_variant,,ENST00000535270,;P2RX2,downstream_gene_variant,,ENST00000542301,;P2RX2,downstream_gene_variant,,ENST00000536121,;P2RX2,downstream_gene_variant,,ENST00000535910,;POLE,downstream_gene_variant,,ENST00000544870,;POLE,downstream_gene_variant,,ENST00000538196,;POLE,downstream_gene_variant,,ENST00000537064,;POLE,downstream_gene_variant,,ENST00000544692,;POLE,downstream_gene_variant,,ENST00000541627,;POLE,downstream_gene_variant,,ENST00000534922,;POLE,downstream_gene_variant,,ENST00000543516,;	uc001ukj.1	c.916_918delTAC	953-955/1867	5	5			c.916_918delTAC						12	DEL	c.(916-918)TACdel	NaN	0				0	Broad	purinergic receptor P2X2 isoform A			133197853		0.606	ENSG00000187848	11150	g.chr12:133197851_133197853delTAC	positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity																				0.02	1	1	0	1	0	0	0	0	0	--	--		0	-			P2RX2_uc001uki.1_In_Frame_Del_p.Y307del|P2RX2_uc001ukk.1_In_Frame_Del_p.Y307del|P2RX2_uc001ukl.1_In_Frame_Del_p.Y283del|P2RX2_uc001ukm.1_In_Frame_Del_p.Y235del|P2RX2_uc001ukn.1_In_Frame_Del_p.Y215del|P2RX2_uc009zyt.1_In_Frame_Del_p.Y307del|P2RX2_uc001uko.1_In_Frame_Del_p.Y273del	116	GBM-08-0386-TP	p.Y307del	TAC	GTTTGCCAAATACTACAAGATCA	NM_170682	NP_733782	133197851	Q9UBL9	P2RX2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)	9	916_918	+	-	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)	In_Frame_Del	307			Extracellular (Potential).			
P2RX3	5024	broad.mit.edu	GRCh37	11	57106069	57106069	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0211-01	TCGA-06-0211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263314.2:c.45G>A	p.Ser15=	p.S15=	ENST00000263314	NM_002559.3	15	tcG/tcA	0	A:0		1			A	S	uc001nju.2	protein_coding	YES	CCDS7953.1			45/1194										0	c.(43-45)TCG>TCA			Pfam_domain:PF00864,hmmpanther:PTHR10125,hmmpanther:PTHR10125:SF8,TIGRFAM_domain:TIGR00863	purinergic receptor P2X3			A:0.0001	ENSP00000263314		12-Jan	8.24E-06					1.50E-05			rs377236358,COSM2150792	12-Jan	.		ENST00000263314	Transcript			positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	ENSG00000109991	g.chr11:57106069G>A	8534			LOW								--	--	1																																		SSRP1_uc001njt.2_5'Flank	0,1	1			p.S15S	NM_002559	NP_002550			0,1	P2RX3_HUMAN	P2RX3	HGNC	P56373	P2RX3_HUMAN			H0YDR6_HUMAN		1	121	+			UPI00000342EB	15			Cytoplasmic (Potential).		SNV	P2RX3,synonymous_variant,p.=,ENST00000263314,NM_002559.3;SSRP1,upstream_gene_variant,,ENST00000278412,NM_003146.2;SSRP1,upstream_gene_variant,,ENST00000526696,;SSRP1,upstream_gene_variant,,ENST00000529002,;P2RX3,non_coding_transcript_exon_variant,,ENST00000533436,;SSRP1,upstream_gene_variant,,ENST00000293880,;	uc001nju.2	c.45G>A	79/1831	1	1			c.45G>A						11	SNP	c.(43-45)TCG>TCA	52	52				0	Broad	purinergic receptor P2X3			57106069		0.532	ENSG00000109991	11151	g.chr11:57106069G>A	positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity							408.484176	KEEP	67	78	-1	109	111	67	78	-1	411.432564	109	111	0.398792	1	0	0	0	0	0	0	1	0	--	--		0	A			SSRP1_uc001njt.2_5'Flank	48	GBM-06-0211-TP	p.S15S	G	CCACCAAGTCGGTGGTTGTGA	NM_002559	NP_002550	57106069	P56373	P2RX3_HUMAN	0			1	121	+	A	A			Silent	15			Cytoplasmic (Potential).			
P2RX3	5024	broad.mit.edu	GRCh37	11	57137380	57137380	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263314.2:c.1104C>A	p.Ile368=	p.I368=	ENST00000263314	NM_002559.3	368	atC/atA	0	T:0.0002	G:0	1	G:0		A	I	uc001nju.2	protein_coding	YES	CCDS7953.1			1104/1194										0	c.(1102-1104)ATC>ATA			Pfam_domain:PF00864,Prints_domain:PR01310,hmmpanther:PTHR10125,hmmpanther:PTHR10125:SF8	purinergic receptor P2X3		G:0	T:0	ENSP00000263314	G:0	12-Dec									rs377490584,COSM3397874	12-Dec	.		ENST00000263314	Transcript		G:0.0012	positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	ENSG00000109991	g.chr11:57137380C>A	8534			LOW								--	--	1																																			0,1	1			p.I368I	NM_002559	NP_002550	G:0.0061		0,1	P2RX3_HUMAN	P2RX3	HGNC	P56373	P2RX3_HUMAN			H0YDR6_HUMAN		12	1180	+			UPI00000342EB	368			Cytoplasmic (Potential).		SNV	P2RX3,synonymous_variant,p.=,ENST00000263314,NM_002559.3;	uc001nju.2	c.1104C>A	1138/1831	2	2			c.1104C>A						11	SNP	c.(1102-1104)ATC>ATA	23	23				0	Broad	purinergic receptor P2X3			57137380		0.547	ENSG00000109991	11151	g.chr11:57137380C>A	positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity							86.042588	KEEP	13	19	0.59375	0	1	13	19	0.59375	88.579062	0	1	0.961538	1	0	0	0	0	0	0	1	0	--	--		0	A				102	GBM-06-5858-TP	p.I368I	C	CGCTGAAAATCGCGGCTTTGA	NM_002559	NP_002550	57137380	P56373	P2RX3_HUMAN	0			12	1180	+	A	A			Silent	368			Cytoplasmic (Potential).			
P2RX5	5026	broad.mit.edu	GRCh37	17	3582918	3582918	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000225328.5:c.1225G>A	p.Gly409Arg	p.G409R	ENST00000225328	NM_001204519.1	409	Gga/Aga	0	T:0		1			T	G/R	uc002fwi.2	protein_coding	YES	CCDS11034.1			1225/1269										0	c.(1225-1227)GGA>AGA			hmmpanther:PTHR10125,hmmpanther:PTHR10125:SF12	purinergic receptor P2X5 isoform A			T:0.0002	ENSP00000225328		12-Nov	4.94E-05			0.000233		6.04E-05			rs373920522,COSM3183336	12-Nov	.		ENST00000225328	Transcript			nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	ENSG00000083454	g.chr17:3582918C>T	8536			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=P2RX5_HUMAN&rb=368&re=422&var=G409R	NA	getma.org/?cm=var&var=hg19,17,3582918,C,T&fts=all	G409R	--	--	1																																		P2RX5_uc002fwd.2_RNA|P2RX5_uc002fwh.1_Missense_Mutation_p.G408R|P2RX5_uc010vrx.1_Missense_Mutation_p.G349R|P2RX5_uc002fwj.2_Missense_Mutation_p.G384R|P2RX5_uc002fwk.2_Missense_Mutation_p.G408R|P2RX5_uc002fwl.2_Missense_Mutation_p.G385R	0,1	1		possibly_damaging(0.753)	p.G409R	NM_002561	NP_002552		deleterious_low_confidence(0)	0,1	P2RX5_HUMAN	P2RX5	HGNC	Q93086	P2RX5_HUMAN					11	1509	-			UPI0000074324	409			Cytoplasmic (Potential).		SNV	P2RX5,missense_variant,p.Gly409Arg,ENST00000225328,NM_001204519.1,NM_002561.3;P2RX5,missense_variant,p.Gly385Arg,ENST00000345901,NM_175080.2,NM_001204520.1;P2RX5,missense_variant,p.Gly408Arg,ENST00000547178,;P2RX5,missense_variant,p.Gly384Arg,ENST00000551178,;P2RX5,missense_variant,p.Gly408Arg,ENST00000552276,;P2RX5,missense_variant,p.Gly349Arg,ENST00000552050,;P2RX5,missense_variant,p.Gly409Arg,ENST00000435558,;P2RX5,missense_variant,p.Gly283Arg,ENST00000552723,;P2RX5-TAX1BP3,missense_variant,p.Gly409Arg,ENST00000550383,;P2RX5,3_prime_UTR_variant,,ENST00000552456,;P2RX5,non_coding_transcript_exon_variant,,ENST00000549063,;	uc002fwi.2	c.1225G>A	1624/2309	2	2			c.1225G>A						17	SNP	c.(1225-1227)GGA>AGA	22	22				0	Broad	purinergic receptor P2X5 isoform A			3582918		0.672	ENSG00000083454	11153	g.chr17:3582918C>T	nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity							51.801739	KEEP	12	10	-1	23	37	12	10	-1	54.462651	23	37	0.287879	1	0	0	0	0	1	0	0	0	--	--		0	T			P2RX5_uc002fwd.2_RNA|P2RX5_uc002fwh.1_Missense_Mutation_p.G408R|P2RX5_uc010vrx.1_Missense_Mutation_p.G349R|P2RX5_uc002fwj.2_Missense_Mutation_p.G384R|P2RX5_uc002fwk.2_Missense_Mutation_p.G408R|P2RX5_uc002fwl.2_Missense_Mutation_p.G385R	65	GBM-06-0743-TP	p.G409R	C	CACACAGATCCGTTCCCCTTC	NM_002561	NP_002552	3582918	Q93086	P2RX5_HUMAN	0			11	1509	-	T	T			Missense_Mutation	409			Cytoplasmic (Potential).			
P2RY10	27334	broad.mit.edu	GRCh37	X	78216344	78216344	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6389-01	TCGA-06-6389-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000171757.2:c.327C>T	p.Cys109=	p.C109=	ENST00000171757	NM_014499.2	109	tgC/tgT	0			1			T	C	uc004ede.2	protein_coding	YES	CCDS14442.1			327/1020									ovary(2)|lung(2)|breast(1)	5	c.(325-327)TGC>TGT			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR01157,PROSITE_profiles:PS50262,hmmpanther:PTHR24232,hmmpanther:PTHR24232:SF6,Superfamily_domains:SSF81321	G-protein coupled purinergic receptor P2Y10				ENSP00000171757		4-Apr										4-Apr	.		ENST00000171757	Transcript				integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	ENSG00000078589	g.chrX:78216344C>T	19906			LOW								--	--	1																																		P2RY10_uc004edf.2_Silent_p.C109C		1			p.C109C	NM_014499	NP_055314				P2Y10_HUMAN	P2RY10	HGNC	O00398	P2Y10_HUMAN					4	696	+			UPI0000050471	109			Helical; Name=3; (Potential).		SNV	P2RY10,synonymous_variant,p.=,ENST00000171757,NM_014499.2;P2RY10,synonymous_variant,p.=,ENST00000544091,NM_198333.1;P2RY10,non_coding_transcript_exon_variant,,ENST00000475374,;P2RY10,non_coding_transcript_exon_variant,,ENST00000461541,;	uc004ede.2	c.327C>T	607/1714	1	1			c.327C>T						23	SNP	c.(325-327)TGC>TGT	1	1			ovary(2)|lung(2)|breast(1)	5	Broad	G-protein coupled purinergic receptor P2Y10			78216344		0.483	ENSG00000078589	11157	g.chrX:78216344C>T		integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled							51.780094	KEEP	14	14	-1	75	79	14	14	-1	70.880517	75	79	0.154762	1	0	0	0	0	0	0	1	0	--	--		0	T			P2RY10_uc004edf.2_Silent_p.C109C	105	GBM-06-6389-TP	p.C109C	C	GCCTGCTCTGCTTCTACCTGA	NM_014499	NP_055314	78216344	O00398	P2Y10_HUMAN	0			4	696	+	T	T			Silent	109			Helical; Name=3; (Potential).			
P2RY10	0	broad.mit.edu	GRCh37	X	78216461	78216461	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-1823-01	TCGA-14-1823-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000171757.2:c.444C>T	p.Tyr148=	p.Y148=	ENST00000171757	NM_014499.2	148	taC/taT	0			1			T	Y	uc004ede.2	protein_coding	YES	CCDS14442.1			444/1020									ovary(2)|lung(2)|breast(1)	5	c.(442-444)TAC>TAT			Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24232,hmmpanther:PTHR24232:SF6,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	G-protein coupled purinergic receptor P2Y10				ENSP00000171757		4-Apr	0.000107		0.000971						rs773170972,COSM305628	4-Apr	common_variant		ENST00000171757	Transcript				integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	ENSG00000078589	g.chrX:78216461C>T	19906			LOW								--	--	1																																		P2RY10_uc004edf.2_Silent_p.Y148Y	0,1	1			p.Y148Y	NM_014499	NP_055314			0,1	P2Y10_HUMAN	P2RY10	HGNC	O00398	P2Y10_HUMAN					4	813	+			UPI0000050471	148			Cytoplasmic (Potential).		SNV	P2RY10,synonymous_variant,p.=,ENST00000171757,NM_014499.2;P2RY10,synonymous_variant,p.=,ENST00000544091,NM_198333.1;P2RY10,non_coding_transcript_exon_variant,,ENST00000475374,;P2RY10,downstream_gene_variant,,ENST00000461541,;	uc004ede.2	c.444C>T	724/1714	1	1			c.444C>T						23	SNP	c.(442-444)TAC>TAT	8	8			ovary(2)|lung(2)|breast(1)	5	Broad	G-protein coupled purinergic receptor P2Y10			78216461		0.498	ENSG00000078589	11157	g.chrX:78216461C>T		integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled							76.443117	KEEP	22	15	-1	97	47	22	15	-1	90.271932	97	47	0.204678	1	0	0	0	0	0	0	1	0	--	--		0	T			P2RY10_uc004edf.2_Silent_p.Y148Y	147	GBM-14-1823-TP	p.Y148Y	C	AGCGTAGGTACGATGTGGGCA	NM_014499	NP_055314	78216461	O00398	P2Y10_HUMAN	0			4	813	+	T	T			Silent	148			Cytoplasmic (Potential).			
P2RY10	27334		GRCh37	X	78216911	78216911	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000171757.2:c.894C>T	p.Cys298=	p.C298=	ENST00000171757	NM_014499.2	298	tgC/tgT	0																																																																																																																																																																																																																																												
P2RY2	5029	broad.mit.edu	GRCh37	11	72945705	72945705	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0645-01	TCGA-06-0645-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311131.2:c.501C>T	p.Pro167=	p.P167=	ENST00000311131	NM_176072.2	167	ccC/ccT	0			1			T	P	uc001otj.2	protein_coding	YES	CCDS8219.1			501/1134									ovary(2)|lung(1)|skin(1)	4	c.(499-501)CCC>CCT			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24231:SF17,hmmpanther:PTHR24231,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00594	purinergic receptor P2Y2	Suramin(DB04786)			ENSP00000310305		3-Mar									COSM2151266	3-Mar	.		ENST00000311131	Transcript			activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	ENSG00000175591	g.chr11:72945705C>T	8541			LOW								--	--	1																																		P2RY2_uc001otk.2_Silent_p.P167P|P2RY2_uc001otl.2_Silent_p.P167P	1	1			p.P167P	NM_002564	NP_002555			1	P2RY2_HUMAN	P2RY2	HGNC	P41231	P2RY2_HUMAN					3	834	+			UPI000013F103	167			Helical; Name=4; (Potential).		SNV	P2RY2,synonymous_variant,p.=,ENST00000311131,NM_176072.2;P2RY2,synonymous_variant,p.=,ENST00000393596,;P2RY2,synonymous_variant,p.=,ENST00000393597,;RP11-800A3.4,upstream_gene_variant,,ENST00000565433,;	uc001otj.2	c.501C>T	968/2660	2	2			c.501C>T						11	SNP	c.(499-501)CCC>CCT	41	41			ovary(2)|lung(1)|skin(1)	4	Broad	purinergic receptor P2Y2		Suramin(DB04786)	72945705		0.721	ENSG00000175591	11162	g.chr11:72945705C>T	activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled							35.395268	KEEP	8	6	-1	17	10	8	6	-1	36.156017	17	10	0.342857	1	0	0	0	0	0	0	1	0	--	--		0	T			P2RY2_uc001otk.2_Silent_p.P167P|P2RY2_uc001otl.2_Silent_p.P167P	59	GBM-06-0645-TP	p.P167P	C	GCCAGGCCCCCGTGCTCTACT	NM_002564	NP_002555	72945705	P41231	P2RY2_HUMAN	0			3	834	+	T	T			Silent	167			Helical; Name=4; (Potential).			
P2RY2	0	broad.mit.edu	GRCh37	11	72946285	72946285	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01	TCGA-28-5216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311131.2:c.1081C>T	p.Arg361Trp	p.R361W	ENST00000311131	NM_176072.2	361	Cgg/Tgg	0			1			T	R/W	uc001otj.2	protein_coding	YES	CCDS8219.1			1081/1134								p.R361P(1)	ovary(2)|lung(1)|skin(1)	4	c.(1081-1083)CGG>TGG			hmmpanther:PTHR24231:SF17,hmmpanther:PTHR24231,Prints_domain:PR00594	purinergic receptor P2Y2	Suramin(DB04786)			ENSP00000310305		3-Mar									COSM3398122	3-Mar	.		ENST00000311131	Transcript			activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	ENSG00000175591	g.chr11:72946285C>T	8541			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=P2RY2_HUMAN&rb=331&re=375&var=R361W	NA	getma.org/?cm=var&var=hg19,11,72946285,C,T&fts=all	R361W	--	--	1																																		P2RY2_uc001otk.2_Missense_Mutation_p.R361W|P2RY2_uc001otl.2_Missense_Mutation_p.R361W	1	1		benign(0.001)	p.R361W	NM_002564	NP_002555		tolerated_low_confidence(0.05)	1	P2RY2_HUMAN	P2RY2	HGNC	P41231	P2RY2_HUMAN					3	1414	+			UPI000013F103	361			Cytoplasmic (Potential).		SNV	P2RY2,missense_variant,p.Arg361Trp,ENST00000311131,NM_176072.2;P2RY2,missense_variant,p.Arg361Trp,ENST00000393596,;P2RY2,missense_variant,p.Arg361Trp,ENST00000393597,;RP11-800A3.4,upstream_gene_variant,,ENST00000565433,;	uc001otj.2	c.1081C>T	1548/2660	1	1			c.1081C>T						11	SNP	c.(1081-1083)CGG>TGG	12	12		p.R361P(1)	ovary(2)|lung(1)|skin(1)	4	Broad	purinergic receptor P2Y2		Suramin(DB04786)	72946285		0.582	ENSG00000175591	11162	g.chr11:72946285C>T	activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled							253.392051	KEEP	55	63	-1	85	67	55	63	-1	254.231501	85	67	0.432558	1	0	0	0	0	1	0	0	0	--	--		0	T			P2RY2_uc001otk.2_Missense_Mutation_p.R361W|P2RY2_uc001otl.2_Missense_Mutation_p.R361W	223	GBM-28-5216-TP	p.R361W	C	GGACTCTAGGCGGACAGAGTC	NM_002564	NP_002555	72946285	P41231	P2RY2_HUMAN	0			3	1414	+	T	T			Missense_Mutation	361			Cytoplasmic (Potential).			
P2RY2	0	broad.mit.edu	GRCh37	11	72945627	72945627	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-2572-01	TCGA-41-2572-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311131.2:c.423C>T	p.Ser141=	p.S141=	ENST00000311131	NM_176072.2	141	tcC/tcT	0			1			T	S	uc001otj.2	protein_coding	YES	CCDS8219.1			423/1134									ovary(2)|lung(1)|skin(1)	4	c.(421-423)TCC>TCT			PROSITE_profiles:PS50262,hmmpanther:PTHR24231:SF17,hmmpanther:PTHR24231,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	purinergic receptor P2Y2	Suramin(DB04786)			ENSP00000310305		3-Mar									COSM3398121	3-Mar	.		ENST00000311131	Transcript			activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	ENSG00000175591	g.chr11:72945627C>T	8541			LOW								--	--	1																																		P2RY2_uc001otk.2_Silent_p.S141S|P2RY2_uc001otl.2_Silent_p.S141S	1	1			p.S141S	NM_002564	NP_002555			1	P2RY2_HUMAN	P2RY2	HGNC	P41231	P2RY2_HUMAN					3	756	+			UPI000013F103	141			Cytoplasmic (Potential).		SNV	P2RY2,synonymous_variant,p.=,ENST00000311131,NM_176072.2;P2RY2,synonymous_variant,p.=,ENST00000393596,;P2RY2,synonymous_variant,p.=,ENST00000393597,;RP11-800A3.4,upstream_gene_variant,,ENST00000565433,;	uc001otj.2	c.423C>T	890/2660	2	2			c.423C>T						11	SNP	c.(421-423)TCC>TCT	25	25			ovary(2)|lung(1)|skin(1)	4	Broad	purinergic receptor P2Y2		Suramin(DB04786)	72945627		0.662	ENSG00000175591	11162	g.chr11:72945627C>T	activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled							110.895631	KEEP	21	23	-1	43	33	21	23	-1	112.421328	43	33	0.371429	1	0	0	0	0	0	0	1	0	--	--		0	T			P2RY2_uc001otk.2_Silent_p.S141S|P2RY2_uc001otl.2_Silent_p.S141S	251	GBM-41-2572-TP	p.S141S	C	CTCTGCGCTCCCTGCGCTGGG	NM_002564	NP_002555	72945627	P41231	P2RY2_HUMAN	0			3	756	+	T	T			Silent	141			Cytoplasmic (Potential).			
P2RY4	5030	broad.mit.edu	GRCh37	X	69478786	69478786	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0145-01	TCGA-06-0145-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374519.2:c.689C>A	p.Pro230His	p.P230H	ENST00000374519	NM_002565.3	230	cCc/cAc	0			1			T	P/H	uc004dxz.1	protein_coding	YES	CCDS14398.1			689/1098									lung(1)	1	c.(688-690)CCC>CAC			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR01066,Prints_domain:PR01157,PROSITE_profiles:PS50262,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF21,Superfamily_domains:SSF81321	pyrimidinergic receptor P2Y4				ENSP00000363643		1-Jan									COSM2149735	1-Jan	.		ENST00000374519	Transcript			activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	ENSG00000186912	g.chrX:69478786G>T	8542			MODERATE		2.095	medium	getma.org/?cm=msa&ty=f&p=P2RY4_HUMAN&rb=52&re=306&var=P230H	getma.org/pdb.php?prot=P2RY4_HUMAN&from=52&to=306&var=P230H	getma.org/?cm=var&var=hg19,X,69478786,G,T&fts=all	P230H	--	--	1																																			1	1		benign(0.248)	p.P230H	NM_002565	NP_002556		deleterious(0.01)	1	P2RY4_HUMAN	P2RY4	HGNC	P51582	P2RY4_HUMAN			C6G7W3_HUMAN		1	869	-			UPI000002E776	230			Cytoplasmic (Potential).		SNV	P2RY4,missense_variant,p.Pro230His,ENST00000374519,NM_002565.3;	uc004dxz.1	c.689C>A	869/1639	1	1			c.689C>A						23	SNP	c.(688-690)CCC>CAC	13	13			lung(1)	1	Broad	pyrimidinergic receptor P2Y4			69478786		0.582	ENSG00000186912	11163	g.chrX:69478786G>T	activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled							34.163112	KEEP	10	3	0.769230769	13	7	10	3	0.769230769	34.489417	13	7	0.393939	1	0	0	0	0	1	0	0	0	--	--		0	T				23	GBM-06-0145-TP	p.P230H	G	GCCTGGCAAGGGCTGATACAG	NM_002565	NP_002556	69478786	P51582	P2RY4_HUMAN	0			1	869	-	T	T			Missense_Mutation	230			Cytoplasmic (Potential).			
P2RY4	5030	broad.mit.edu	GRCh37	X	69479145	69479145	+	synonymous_variant	Silent	SNP	G	G	A	rs146718292	byFrequency	TCGA-06-0877-01	TCGA-06-0877-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374519.2:c.330C>T	p.Phe110=	p.F110=	ENST00000374519	NM_002565.3	110	ttC/ttT	0	A:0		1			A	F	uc004dxz.1	protein_coding	YES	CCDS14398.1			330/1098									lung(1)	1	c.(328-330)TTC>TTT			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR01157,PROSITE_profiles:PS50262,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF21,Superfamily_domains:SSF81321	pyrimidinergic receptor P2Y4			A:0.0001	ENSP00000363643		1-Jan	3.29E-05	0.000243				2.16E-05			rs146718292,COSM1124389	1-Jan	.		ENST00000374519	Transcript			activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	ENSG00000186912	g.chrX:69479145G>A	8542			LOW								--	--	1																																			0,1	1			p.F110F	NM_002565	NP_002556			0,1	P2RY4_HUMAN	P2RY4	HGNC	P51582	P2RY4_HUMAN			C6G7W3_HUMAN		1	510	-			UPI000002E776	110			Extracellular (Potential).		SNV	P2RY4,synonymous_variant,p.=,ENST00000374519,NM_002565.3;	uc004dxz.1	c.330C>T	510/1639	2	2			c.330C>T						23	SNP	c.(328-330)TTC>TTT	46	46			lung(1)	1	Broad	pyrimidinergic receptor P2Y4			69479145		0.542	ENSG00000186912	11163	g.chrX:69479145G>A	activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled							77.811076	KEEP	14	10	-1	3	6	14	10	-1	79.34705	3	6	0.727273	1	0	0	0	0	0	0	1	0	--	--		0	A				73	GBM-06-0877-TP	p.F110F	G	GAAAGCGGACGAACTTGCAGA	NM_002565	NP_002556	69479145	P51582	P2RY4_HUMAN	0			1	510	-	A	A			Silent	110			Extracellular (Potential).			
P4HA2	0	broad.mit.edu	GRCh37	5	131544873	131544873	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000166534.4:c.861G>A	p.Arg287=	p.R287=	ENST00000166534	NM_001142599.1	287	agG/agA	0			1			T	R	uc003kwh.2	protein_coding		CCDS4151.1			861/1608										0	c.(859-861)AGG>AGA			hmmpanther:PTHR10869,hmmpanther:PTHR10869:SF41	prolyl 4-hydroxylase, alpha II subunit isoform 1	L-Proline(DB00172)|Succinic acid(DB00139)			ENSP00000166534		16-Aug									COSM246327,COSM3409722	16-Aug	.		ENST00000166534	Transcript				endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	ENSG00000072682	g.chr5:131544873C>T	8547			LOW								--	--	1																																		P4HA2_uc003kwg.2_Silent_p.R287R|P4HA2_uc003kwi.2_Silent_p.R287R|P4HA2_uc003kwk.2_Silent_p.R287R|P4HA2_uc003kwl.2_Silent_p.R287R|P4HA2_uc003kwj.2_Silent_p.R287R	1,1				p.R287R	NM_004199	NP_004190			1,1	P4HA2_HUMAN	P4HA2	HGNC	O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		E7ERI1_HUMAN,E7ENX0_HUMAN,C9JX45_HUMAN,C9JN43_HUMAN,C9JIG4_HUMAN,C9JFJ1_HUMAN,C9JCP0_HUMAN,A8MXE0_HUMAN		7	1425	-		all_cancers(142;0.103)|Breast(839;0.198)	UPI000013102D	287					SNV	P4HA2,synonymous_variant,p.=,ENST00000401867,;P4HA2,synonymous_variant,p.=,ENST00000379104,NM_004199.2;P4HA2,synonymous_variant,p.=,ENST00000379100,NM_001017973.1;P4HA2,synonymous_variant,p.=,ENST00000360568,NM_001017974.1;P4HA2,synonymous_variant,p.=,ENST00000166534,NM_001142599.1;P4HA2,synonymous_variant,p.=,ENST00000379086,NM_001142598.1;P4HA2,downstream_gene_variant,,ENST00000417528,;P4HA2,downstream_gene_variant,,ENST00000439698,;P4HA2,downstream_gene_variant,,ENST00000453286,;P4HA2,downstream_gene_variant,,ENST00000428369,;P4HA2,downstream_gene_variant,,ENST00000431054,;P4HA2,downstream_gene_variant,,ENST00000418055,;P4HA2,downstream_gene_variant,,ENST00000395164,;	uc003kwh.2	c.861G>A	1083/2230	2	2			c.861G>A						5	SNP	c.(859-861)AGG>AGA	26	26				0	Broad	prolyl 4-hydroxylase, alpha II subunit isoform 1		L-Proline(DB00172)|Succinic acid(DB00139)	131544873		0.542	ENSG00000072682	11166	g.chr5:131544873C>T		endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	Esophageal Squamous(68;117 1135 17362 19256 34242)			Esophageal Squamous(68;117 1135 17362 19256 34242)			189.048465	KEEP	36	45	-1	86	111	36	45	-1	199.459175	86	111	0.283401	1	0	0	0	0	0	0	1	0	--	--		0	T			P4HA2_uc003kwg.2_Silent_p.R287R|P4HA2_uc003kwi.2_Silent_p.R287R|P4HA2_uc003kwk.2_Silent_p.R287R|P4HA2_uc003kwl.2_Silent_p.R287R|P4HA2_uc003kwj.2_Silent_p.R287R	230	GBM-32-1979-TP	p.R287R	C	CGTAAACATCCCTCTCAGGCA	NM_004199	NP_004190	131544873	O15460	P4HA2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		7	1425	-	T	T		all_cancers(142;0.103)|Breast(839;0.198)	Silent	287						
P4HTM	54681	broad.mit.edu	GRCh37	3	49043241	49043241	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343546.4:c.1288G>A	p.Val430Ile	p.V430I	ENST00000343546	NM_177938.2	430	Gtc/Atc	0			1			A	V/I	uc003cvg.2	protein_coding		CCDS43089.1			1105/1509									skin(1)|pancreas(1)	2	c.(1105-1107)GTC>ATC			Pfam_domain:PF13640,PROSITE_profiles:PS51471,hmmpanther:PTHR10869,SMART_domains:SM00702	hypoxia-inducible factor prolyl 4-hydroxylase	Vitamin C(DB00126)			ENSP00000373235		9-Jul	8.24E-06							8.94E-05	rs758471704,COSM3408734,COSM3408733	9-Jul	.		ENST00000383729	Transcript				endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	ENSG00000178467	g.chr3:49043241G>A	28858			MODERATE		2.785	medium	getma.org/?cm=msa&ty=f&p=P4HTM_HUMAN&rb=314&re=459&var=V369I	getma.org/pdb.php?prot=P4HTM_HUMAN&from=314&to=459&var=V369I	getma.org/?cm=var&var=hg19,3,49043241,G,A&fts=all	V369I	--	--	1																																		P4HTM_uc003cvh.2_Missense_Mutation_p.V430I|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	0,1,1			probably_damaging(0.974)	p.V369I	NM_177939	NP_808808		tolerated(0.06)	0,1,1	P4HTM_HUMAN	P4HTM	HGNC	Q9NXG6	P4HTM_HUMAN					7	1454	+			UPI0000185F98	369			Lumenal (Potential).|Fe2OG dioxygenase.		SNV	P4HTM,missense_variant,p.Val430Ile,ENST00000343546,NM_177938.2;P4HTM,missense_variant,p.Val369Ile,ENST00000383729,NM_177939.2;P4HTM,intron_variant,,ENST00000491739,;WDR6,upstream_gene_variant,,ENST00000395474,NM_018031.3;WDR6,upstream_gene_variant,,ENST00000608424,;WDR6,upstream_gene_variant,,ENST00000448293,;WDR6,upstream_gene_variant,,ENST00000415265,;WDR6,upstream_gene_variant,,ENST00000438660,;P4HTM,downstream_gene_variant,,ENST00000444213,;P4HTM,downstream_gene_variant,,ENST00000472796,;WDR6,upstream_gene_variant,,ENST00000489427,;WDR6,upstream_gene_variant,,ENST00000429900,;WDR6,upstream_gene_variant,,ENST00000419837,;WDR6,upstream_gene_variant,,ENST00000491365,;WDR6,upstream_gene_variant,,ENST00000489684,;P4HTM,downstream_gene_variant,,ENST00000468374,;P4HTM,downstream_gene_variant,,ENST00000486817,;WDR6,upstream_gene_variant,,ENST00000472878,;WDR6,upstream_gene_variant,,ENST00000461687,;P4HTM,non_coding_transcript_exon_variant,,ENST00000484115,;P4HTM,non_coding_transcript_exon_variant,,ENST00000472301,;WDR6,upstream_gene_variant,,ENST00000452875,;WDR6,upstream_gene_variant,,ENST00000420783,;WDR6,upstream_gene_variant,,ENST00000471162,;P4HTM,downstream_gene_variant,,ENST00000485210,;WDR6,upstream_gene_variant,,ENST00000488572,;WDR6,upstream_gene_variant,,ENST00000462064,;WDR6,upstream_gene_variant,,ENST00000473238,;	uc003cvg.2	c.1105G>A	1476/2127	1	1			c.1105G>A						3	SNP	c.(1105-1107)GTC>ATC	54	54			skin(1)|pancreas(1)	2	Broad	hypoxia-inducible factor prolyl 4-hydroxylase		Vitamin C(DB00126)	49043241		0.542	ENSG00000178467	11169	g.chr3:49043241G>A		endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen							-26.717247	KEEP	2	2	-1	64	84	2	2	-1	6.95665	64	84	0.028986	1	0	0	0	0	1	0	0	0	--	--		0	A			P4HTM_uc003cvh.2_Missense_Mutation_p.V430I|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	102	GBM-06-5858-TP	p.V369I	G	TTTGAACAACGTCACTGGTGG	NM_177939	NP_808808	49043241	Q9NXG6	P4HTM_HUMAN	0			7	1454	+	A	A			Missense_Mutation	369			Lumenal (Potential).|Fe2OG dioxygenase.			
P4HTM	0	broad.mit.edu	GRCh37	3	49042445	49042445	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-3653-01	TCGA-12-3653-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000383729.4:c.1039G>A	p.Ala347Thr	p.A347T	ENST00000383729	NM_177939.2	347	Gcc/Acc	0			1			A	A/T	uc003cvg.2	protein_coding		CCDS43089.1			1039/1509									skin(1)|pancreas(1)	2	c.(1039-1041)GCC>ACC			Pfam_domain:PF13640,PROSITE_profiles:PS51471,hmmpanther:PTHR10869,SMART_domains:SM00702	hypoxia-inducible factor prolyl 4-hydroxylase	Vitamin C(DB00126)			ENSP00000373235		9-Jun									COSM3408732,COSM3408731	9-Jun	.		ENST00000383729	Transcript				endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	ENSG00000178467	g.chr3:49042445G>A	28858			MODERATE		0.82	low	getma.org/?cm=msa&ty=f&p=P4HTM_HUMAN&rb=314&re=459&var=A347T	getma.org/pdb.php?prot=P4HTM_HUMAN&from=314&to=459&var=A347T	getma.org/?cm=var&var=hg19,3,49042445,G,A&fts=all	A347T	--	--	1																																		P4HTM_uc003cvh.2_Missense_Mutation_p.A347T|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	1,1			benign(0.072)	p.A347T	NM_177939	NP_808808		tolerated(0.13)	1,1	P4HTM_HUMAN	P4HTM	HGNC	Q9NXG6	P4HTM_HUMAN					6	1388	+			UPI0000185F98	347			Lumenal (Potential).|Fe2OG dioxygenase.		SNV	P4HTM,missense_variant,p.Ala347Thr,ENST00000343546,NM_177938.2;P4HTM,missense_variant,p.Ala347Thr,ENST00000383729,NM_177939.2;P4HTM,intron_variant,,ENST00000491739,;WDR6,upstream_gene_variant,,ENST00000395474,NM_018031.3;WDR6,upstream_gene_variant,,ENST00000608424,;WDR6,upstream_gene_variant,,ENST00000448293,;WDR6,upstream_gene_variant,,ENST00000415265,;WDR6,upstream_gene_variant,,ENST00000438660,;P4HTM,downstream_gene_variant,,ENST00000444213,;P4HTM,downstream_gene_variant,,ENST00000472796,;WDR6,upstream_gene_variant,,ENST00000489427,;WDR6,upstream_gene_variant,,ENST00000429900,;WDR6,upstream_gene_variant,,ENST00000419837,;WDR6,upstream_gene_variant,,ENST00000491365,;WDR6,upstream_gene_variant,,ENST00000489684,;P4HTM,downstream_gene_variant,,ENST00000468374,;P4HTM,downstream_gene_variant,,ENST00000486817,;WDR6,upstream_gene_variant,,ENST00000472878,;WDR6,upstream_gene_variant,,ENST00000461687,;P4HTM,non_coding_transcript_exon_variant,,ENST00000484115,;P4HTM,non_coding_transcript_exon_variant,,ENST00000472301,;WDR6,upstream_gene_variant,,ENST00000452875,;WDR6,upstream_gene_variant,,ENST00000420783,;WDR6,upstream_gene_variant,,ENST00000471162,;P4HTM,downstream_gene_variant,,ENST00000485210,;WDR6,upstream_gene_variant,,ENST00000488572,;WDR6,upstream_gene_variant,,ENST00000462064,;WDR6,upstream_gene_variant,,ENST00000473238,;	uc003cvg.2	c.1039G>A	1410/2127	1	1			c.1039G>A						3	SNP	c.(1039-1041)GCC>ACC	55	55			skin(1)|pancreas(1)	2	Broad	hypoxia-inducible factor prolyl 4-hydroxylase		Vitamin C(DB00126)	49042445		0.587	ENSG00000178467	11169	g.chr3:49042445G>A		endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen							14.730394	KEEP	2	9	-1	40	26	2	9	-1	22.944599	40	26	0.138462	1	0	0	0	0	1	0	0	0	--	--		0	A			P4HTM_uc003cvh.2_Missense_Mutation_p.A347T|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	128	GBM-12-3653-TP	p.A347T	G	CAAGCTGGTAGCCAACGAGTC	NM_177939	NP_808808	49042445	Q9NXG6	P4HTM_HUMAN	0			6	1388	+	A	A			Missense_Mutation	347			Lumenal (Potential).|Fe2OG dioxygenase.			
PA2G4	5036	broad.mit.edu	GRCh37	12	56501039	56501039	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-6390-01	TCGA-06-6390-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303305.6:c.392A>G	p.Gln131Arg	p.Q131R	ENST00000303305	NM_006191.2	131	cAg/cGg	0			1			G	Q/R	uc001sjm.2	protein_coding	YES	CCDS8902.1			392/1185										0	c.(391-393)CAG>CGG			Gene3D:3.90.230.10,Pfam_domain:PF00557,hmmpanther:PTHR10804,hmmpanther:PTHR10804:SF83,Superfamily_domains:SSF55920,TIGRFAM_domain:TIGR00495	ErbB3-binding protein 1				ENSP00000302886		13-Apr									COSM2153451	13-Apr	.		ENST00000303305	Transcript			cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	ENSG00000170515	g.chr12:56501039A>G	8550			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=PA2G4_HUMAN&rb=19&re=263&var=Q131R	getma.org/pdb.php?prot=PA2G4_HUMAN&from=19&to=263&var=Q131R	getma.org/?cm=var&var=hg19,12,56501039,A,G&fts=all	Q131R	--	--	1																																		PA2G4_uc009zol.2_Missense_Mutation_p.Q131R|PA2G4_uc009zom.2_Missense_Mutation_p.Q131R	1	1		benign(0.009)	p.Q131R	NM_006191	NP_006182		tolerated(0.21)	1	PA2G4_HUMAN	PA2G4	HGNC	Q9UQ80	PA2G4_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		Q6PIN5_HUMAN,F8VZ69_HUMAN,A8K6Y1_HUMAN		4	811	+			UPI0000049B6B	131					SNV	PA2G4,missense_variant,p.Gln131Arg,ENST00000303305,NM_006191.2;PA2G4,missense_variant,p.Gln131Arg,ENST00000552766,;PA2G4,missense_variant,p.Gln120Arg,ENST00000553057,;RP11-603J24.9,missense_variant,p.Gln112Arg,ENST00000548861,;ERBB3,downstream_gene_variant,,ENST00000267101,NM_001982.3;ERBB3,downstream_gene_variant,,ENST00000415288,;ERBB3,downstream_gene_variant,,ENST00000549832,;ERBB3,downstream_gene_variant,,ENST00000553131,;ERBB3,downstream_gene_variant,,ENST00000550070,;ERBB3,downstream_gene_variant,,ENST00000450146,;PA2G4,downstream_gene_variant,,ENST00000551061,;RP11-603J24.17,intron_variant,,ENST00000548595,;PA2G4,splice_region_variant,,ENST00000550166,;ERBB3,downstream_gene_variant,,ENST00000551242,;PA2G4,upstream_gene_variant,,ENST00000552266,;PA2G4,upstream_gene_variant,,ENST00000552528,;	uc001sjm.2	c.392A>G	811/2577	3	3			c.392A>G						12	SNP	c.(391-393)CAG>CGG	3	3				0	Broad	ErbB3-binding protein 1			56501039		0.488	ENSG00000170515	11170	g.chr12:56501039A>G	cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding							96.74718	KEEP	23	19	-1	77	76	23	19	-1	109.285514	77	76	0.217647	1	0	0	0	0	1	0	0	0	--	--		0	G			PA2G4_uc009zol.2_Missense_Mutation_p.Q131R|PA2G4_uc009zom.2_Missense_Mutation_p.Q131R	106	GBM-06-6390-TP	p.Q131R	A	GATGTAGCTCAGGTAGGTGGC	NM_006191	NP_006182	56501039	Q9UQ80	PA2G4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		4	811	+	G	G			Missense_Mutation	131						
PA2G4	0	broad.mit.edu	GRCh37	12	56505022	56505022	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01	TCGA-06-6695-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303305.6:c.994C>T	p.Arg332Trp	p.R332W	ENST00000303305	NM_006191.2	332	Cgg/Tgg	0			1			T	R/W	uc001sjm.2	protein_coding	YES	CCDS8902.1			994/1185										0	c.(994-996)CGG>TGG			Gene3D:3.90.230.10,hmmpanther:PTHR10804,hmmpanther:PTHR10804:SF83,Superfamily_domains:SSF55920,TIGRFAM_domain:TIGR00495	ErbB3-binding protein 1				ENSP00000302886		13-Nov									COSM3398886	13-Nov	.		ENST00000303305	Transcript			cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	ENSG00000170515	g.chr12:56505022C>T	8550			MODERATE		1.72	low	getma.org/?cm=msa&ty=f&p=PA2G4_HUMAN&rb=264&re=394&var=R332W	getma.org/pdb.php?prot=PA2G4_HUMAN&from=264&to=394&var=R332W	getma.org/?cm=var&var=hg19,12,56505022,C,T&fts=all	R332W	--	--	1																																		PA2G4_uc009zol.2_Missense_Mutation_p.R332W|PA2G4_uc009zom.2_Intron	1	1		benign(0.019)	p.R332W	NM_006191	NP_006182		deleterious(0.02)	1	PA2G4_HUMAN	PA2G4	HGNC	Q9UQ80	PA2G4_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		Q6PIN5_HUMAN,F8VZ69_HUMAN,A8K6Y1_HUMAN		11	1413	+			UPI0000049B6B	332			Necessary for nucleolar localization.		SNV	PA2G4,missense_variant,p.Arg332Trp,ENST00000303305,NM_006191.2;PA2G4,intron_variant,,ENST00000552766,;PA2G4,downstream_gene_variant,,ENST00000551061,;PA2G4,downstream_gene_variant,,ENST00000553057,;RP11-603J24.9,downstream_gene_variant,,ENST00000548861,;RP11-603J24.17,intron_variant,,ENST00000548595,;PA2G4,non_coding_transcript_exon_variant,,ENST00000552266,;PA2G4,downstream_gene_variant,,ENST00000550166,;PA2G4,downstream_gene_variant,,ENST00000552528,;	uc001sjm.2	c.994C>T	1413/2577	1	1			c.994C>T						12	SNP	c.(994-996)CGG>TGG	6	6				0	Broad	ErbB3-binding protein 1			56505022		0.438	ENSG00000170515	11170	g.chr12:56505022C>T	cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding							-13.973766	KEEP	3	1	-1	50	46	3	1	-1	6.57573	50	46	0.043478	1	0	0	0	0	1	0	0	0	--	--		0	T			PA2G4_uc009zol.2_Missense_Mutation_p.R332W|PA2G4_uc009zom.2_Intron	110	GBM-06-6695-TP	p.R332W	C	TGGCCCCATGCGGATAACCAG	NM_006191	NP_006182	56505022	Q9UQ80	PA2G4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		11	1413	+	T	T			Missense_Mutation	332			Necessary for nucleolar localization.			
PAAF1	80227	broad.mit.edu	GRCh37	11	73627614	73627614	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0648-01	TCGA-06-0648-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310571.3:c.844G>A	p.Ala282Thr	p.A282T	ENST00000310571	NM_025155.2	282	Gct/Act	0			1			A	A/T	uc001ouk.1	protein_coding	YES	CCDS8226.1			844/1179									ovary(1)|skin(1)	2	c.(844-846)GCT>ACT			hmmpanther:PTHR22844:SF175,hmmpanther:PTHR22844,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	proteasomal ATPase-associated factor 1				ENSP00000311665		12-Sep									COSM2151343	12-Sep	.		ENST00000310571	Transcript			interspecies interaction between organisms	proteasome complex	protein binding	ENSG00000175575	g.chr11:73627614G>A	25687			MODERATE		2.395	medium	getma.org/?cm=msa&ty=f&p=PAAF1_HUMAN&rb=205&re=392&var=A282T	NA	getma.org/?cm=var&var=hg19,11,73627614,G,A&fts=all	A282T	--	--	1																																		PAAF1_uc001oul.1_Missense_Mutation_p.A265T|PAAF1_uc009ytx.1_RNA|PAAF1_uc001oum.1_Missense_Mutation_p.A265T|PAAF1_uc001oun.1_5'Flank	1	1		possibly_damaging(0.829)	p.A282T	NM_025155	NP_079431		deleterious(0.01)	1	PAAF1_HUMAN	PAAF1	HGNC	Q9BRP4	PAAF1_HUMAN			F5H3E9_HUMAN		9	878	+	Breast(11;7.42e-05)		UPI000007150C	282			WD 4.		SNV	PAAF1,missense_variant,p.Ala283Thr,ENST00000544909,;PAAF1,missense_variant,p.Ala167Thr,ENST00000535604,;PAAF1,missense_variant,p.Ala265Thr,ENST00000536003,NM_001267804.1,NM_001267803.1,NM_001267805.1;PAAF1,missense_variant,p.Ala265Thr,ENST00000544552,;PAAF1,missense_variant,p.Ala282Thr,ENST00000310571,NM_025155.2;PAAF1,missense_variant,p.Ala265Thr,ENST00000376384,;PAAF1,missense_variant,p.Ala167Thr,ENST00000541951,NM_001267806.1;PAAF1,missense_variant,p.Ala146Thr,ENST00000546039,;PAAF1,missense_variant,p.Arg92His,ENST00000540659,;PAAF1,downstream_gene_variant,,ENST00000504441,;PAAF1,downstream_gene_variant,,ENST00000543814,;	uc001ouk.1	c.844G>A	897/1604	2	2			c.844G>A						11	SNP	c.(844-846)GCT>ACT	47	47			ovary(1)|skin(1)	2	Broad	proteasomal ATPase-associated factor 1			73627614		0.423	ENSG00000175575	11171	g.chr11:73627614G>A	interspecies interaction between organisms	proteasome complex	protein binding							118.939351	KEEP	25	23	-1	30	25	25	23	-1	119.146877	30	25	0.447059	1	0	0	0	0	1	0	0	0	--	--		0	A			PAAF1_uc001oul.1_Missense_Mutation_p.A265T|PAAF1_uc009ytx.1_RNA|PAAF1_uc001oum.1_Missense_Mutation_p.A265T|PAAF1_uc001oun.1_5'Flank	61	GBM-06-0648-TP	p.A282T	G	TGGCTCAGACGCTTTCAACTG	NM_025155	NP_079431	73627614	Q9BRP4	PAAF1_HUMAN	0			9	878	+	A	A	Breast(11;7.42e-05)		Missense_Mutation	282			WD 4.			
PABPC1L	0	broad.mit.edu	GRCh37	20	43559261	43559261	+	stop_gained	Nonsense_Mutation	SNP	T	T	A			TCGA-28-2499-01	TCGA-28-2499-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217073.2:c.1133T>A	p.Leu378Ter	p.L378*	ENST00000217073		378	tTg/tAg	0			1			A	L/*	uc010ggv.1	protein_coding		CCDS42878.1			1133/1845									ovary(1)	1	c.(1132-1134)TTG>TAG			hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF230,TIGRFAM_domain:TIGR01628	poly(A)-binding protein, cytoplasmic 1-like				ENSP00000217073		14-Aug									COSM3405125	14-Aug	.		ENST00000217073	Transcript					nucleotide binding|RNA binding	ENSG00000101104	g.chr20:43559261T>A	15797			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,20,43559261,T,A&fts=all	L378*	--	--	1																																		PABPC1L_uc010zwq.1_RNA|PABPC1L_uc002xmv.2_RNA|PABPC1L_uc002xmw.2_5'Flank|PABPC1L_uc002xmx.2_5'Flank	1				p.L378*	NM_001124756	NP_001118228			1	PAP1L_HUMAN	PABPC1L	HGNC	Q4VXU2	PAP1L_HUMAN			Q4VXT4_HUMAN		8	1215	+			UPI00005190DD	378					SNV	PABPC1L,stop_gained,p.Leu378Ter,ENST00000255136,NM_001124756.1;PABPC1L,stop_gained,p.Leu378Ter,ENST00000217073,;PABPC1L,3_prime_UTR_variant,,ENST00000537323,;PABPC1L,3_prime_UTR_variant,,ENST00000217074,;PABPC1L,upstream_gene_variant,,ENST00000372824,;PABPC1L,upstream_gene_variant,,ENST00000372819,;PABPC1L,upstream_gene_variant,,ENST00000372826,;PABPC1L,upstream_gene_variant,,ENST00000217075,;PABPC1L,upstream_gene_variant,,ENST00000372822,;PABPC1L,non_coding_transcript_exon_variant,,ENST00000490798,;PABPC1L,non_coding_transcript_exon_variant,,ENST00000476056,;PABPC1L,non_coding_transcript_exon_variant,,ENST00000481196,;PABPC1L,upstream_gene_variant,,ENST00000465761,;PABPC1L,upstream_gene_variant,,ENST00000489068,;PABPC1L,upstream_gene_variant,,ENST00000474208,;PABPC1L,upstream_gene_variant,,ENST00000479873,;	uc010ggv.1	c.1133T>A	1133/1851	5	2			c.1133T>A						20	SNP	c.(1132-1134)TTG>TAG	46	46			ovary(1)	1	Broad	poly(A)-binding protein, cytoplasmic 1-like			43559261		0.627	ENSG00000101104	11173	g.chr20:43559261T>A			nucleotide binding|RNA binding							500.069198	KEEP	105	94	-1	108	113	105	94	-1	500.586085	108	113	0.460317	1	0	0	0	0	0	1	0	0	--	--		0	A			PABPC1L_uc010zwq.1_RNA|PABPC1L_uc002xmv.2_RNA|PABPC1L_uc002xmw.2_5'Flank|PABPC1L_uc002xmx.2_5'Flank	208	GBM-28-2499-TP	p.L378*	T	AAGGCCATCTTGACCAACCAG	NM_001124756	NP_001118228	43559261	Q4VXU2	PAP1L_HUMAN	0			8	1215	+	A	A			Nonsense_Mutation	378						
PABPC3	5042	broad.mit.edu	GRCh37	13	25671552	25671552	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01	TCGA-02-0047-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281589.3:c.1216G>A	p.Ala406Thr	p.A406T	ENST00000281589	NM_030979.2	406	Gct/Act	0			1			A	A/T	uc001upy.2	protein_coding	YES	CCDS9311.1			1216/1896									ovary(3)|skin(1)	4	c.(1216-1218)GCT>ACT			TIGRFAM_domain:TIGR01628,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF239	poly(A) binding protein, cytoplasmic 3				ENSP00000281589		1-Jan									COSM2148975	1-Jan	.		ENST00000281589	Transcript			mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	ENSG00000151846	g.chr13:25671552G>A	8556			MODERATE		1.06	low	getma.org/?cm=msa&ty=f&p=PABP3_HUMAN&rb=365&re=537&var=A406T	NA	getma.org/?cm=var&var=hg19,13,25671552,G,A&fts=all	A406T	--	--	1																																			1	1		benign(0.064)	p.A406T	NM_030979	NP_112241		tolerated(0.27)	1	PABP3_HUMAN	PABPC3	HGNC	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	Q5VX58_HUMAN,Q2VIP3_HUMAN		1	1277	+		Lung SC(185;0.0225)|Breast(139;0.0602)	UPI00001311AB	406					SNV	PABPC3,missense_variant,p.Ala406Thr,ENST00000281589,NM_030979.2;	uc001upy.2	c.1216G>A	1253/3090	1	1			c.1216G>A						13	SNP	c.(1216-1218)GCT>ACT	53	53			ovary(3)|skin(1)	4	Broad	poly(A) binding protein, cytoplasmic 3			25671552		0.532	ENSG00000151846	11174	g.chr13:25671552G>A	mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding							287.546302	KEEP	49	55	-1	66	94	49	55	-1	289.860554	66	94	0.395918	1	0	0	0	0	1	0	0	0	--	--		0	A				3	GBM-02-0047-TP	p.A406T	G	CTTCATGACAGCTGTCCCACA	NM_030979	NP_112241	25671552	Q9H361	PABP3_HUMAN	0		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1277	+	A	A		Lung SC(185;0.0225)|Breast(139;0.0602)	Missense_Mutation	406						
PABPC3	0	broad.mit.edu	GRCh37	13	25671151	25671151	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-5136-01	TCGA-26-5136-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281589.3:c.815G>A	p.Arg272Gln	p.R272Q	ENST00000281589	NM_030979.2	272	cGg/cAg	0			1			A	R/Q	uc001upy.2	protein_coding	YES	CCDS9311.1			815/1896									ovary(3)|skin(1)	4	c.(814-816)CGG>CAG			Superfamily_domains:SSF54928,TIGRFAM_domain:TIGR01628,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF239	poly(A) binding protein, cytoplasmic 3				ENSP00000281589		1-Jan									COSM173445	1-Jan	.		ENST00000281589	Transcript			mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	ENSG00000151846	g.chr13:25671151G>A	8556			MODERATE		4.195	high	getma.org/?cm=msa&ty=f&p=PABP3_HUMAN&rb=263&re=295&var=R272Q	NA	getma.org/?cm=var&var=hg19,13,25671151,G,A&fts=all	R272Q	--	--	1																																			1	1		probably_damaging(0.952)	p.R272Q	NM_030979	NP_112241		deleterious(0.01)	1	PABP3_HUMAN	PABPC3	HGNC	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	Q5VX58_HUMAN,Q2VIP3_HUMAN		1	876	+		Lung SC(185;0.0225)|Breast(139;0.0602)	UPI00001311AB	272					SNV	PABPC3,missense_variant,p.Arg272Gln,ENST00000281589,NM_030979.2;	uc001upy.2	c.815G>A	852/3090	2	2			c.815G>A						13	SNP	c.(814-816)CGG>CAG	35	35			ovary(3)|skin(1)	4	Broad	poly(A) binding protein, cytoplasmic 3			25671151		0.398	ENSG00000151846	11174	g.chr13:25671151G>A	mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding							-68.263113	KEEP	2	3	-1	156	161	2	3	-1	7.457845	156	161	0.017361	1	0	0	0	0	1	0	0	0	--	--		0	A				185	GBM-26-5136-TP	p.R272Q	G	AAAGTGGAACGGCAGACGGAA	NM_030979	NP_112241	25671151	Q9H361	PABP3_HUMAN	0		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	876	+	A	A		Lung SC(185;0.0225)|Breast(139;0.0602)	Missense_Mutation	272						
PABPC3	5042		GRCh37	13	25671129	25671129	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000281589.3:c.793C>T	p.Arg265Ter	p.R265*	ENST00000281589	NM_030979.2	265	Cga/Tga	0																																																																																																																																																																																																																																												
PABPC4	0	broad.mit.edu	GRCh37	1	40029374	40029374	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2524-01	TCGA-27-2524-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372857.3:c.1532C>T	p.Ala511Val	p.A511V	ENST00000372857	NM_003819.3	511	gCt/gTt	0			1			A	A/V	uc010oiv.1	protein_coding		CCDS438.1			1532/1935										0	c.(1531-1533)GCT>GTT			Low_complexity_(Seg):seg,hmmpanther:PTHR24011:SF265,hmmpanther:PTHR24011,TIGRFAM_domain:TIGR01628	poly A binding protein, cytoplasmic 4 isoform 2				ENSP00000361948		16-Dec									COSM3400768,COSM3400767	16-Dec	.		ENST00000372857	Transcript			blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	ENSG00000090621	g.chr1:40029374G>A	8557			MODERATE		1.385	low	getma.org/?cm=msa&ty=f&p=PABP4_HUMAN&rb=365&re=551&var=A511V	NA	getma.org/?cm=var&var=hg19,1,40029374,G,A&fts=all	A511V	--	--	1																																		PABPC4_uc001cdl.2_Missense_Mutation_p.A527V|PABPC4_uc001cdm.2_Missense_Mutation_p.A498V	1,1			benign(0.097)	p.A511V	NM_003819	NP_003810		tolerated(0.27)	1,1	PABP4_HUMAN	PABPC4	HGNC	Q13310	PABP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		B1ANR1_HUMAN		12	2430	-	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	UPI00001311AD	511			Poly-Ala.		SNV	PABPC4,missense_variant,p.Ala511Val,ENST00000372857,NM_003819.3;PABPC4,missense_variant,p.Ala498Val,ENST00000372856,NM_001135654.1;PABPC4,missense_variant,p.Ala527Val,ENST00000372858,NM_001135653.1;PABPC4,missense_variant,p.Ala482Val,ENST00000372862,;PABPC4,missense_variant,p.Ala429Val,ENST00000421687,;PABPC4,missense_variant,p.Ala66Val,ENST00000437136,;PABPC4,missense_variant,p.Ala220Val,ENST00000527718,;PABPC4,upstream_gene_variant,,ENST00000530186,;SNORA55,downstream_gene_variant,,ENST00000364587,NR_002983.1;RP11-69E11.8,upstream_gene_variant,,ENST00000415255,;PABPC4,non_coding_transcript_exon_variant,,ENST00000468476,;PABPC4,non_coding_transcript_exon_variant,,ENST00000492468,;PABPC4,non_coding_transcript_exon_variant,,ENST00000525045,;PABPC4,non_coding_transcript_exon_variant,,ENST00000484555,;PABPC4,non_coding_transcript_exon_variant,,ENST00000477556,;PABPC4,downstream_gene_variant,,ENST00000470443,;PABPC4,downstream_gene_variant,,ENST00000513632,;PABPC4,upstream_gene_variant,,ENST00000482028,;PABPC4,downstream_gene_variant,,ENST00000525669,;PABPC4,downstream_gene_variant,,ENST00000525751,;PABPC4,downstream_gene_variant,,ENST00000483770,;PABPC4,downstream_gene_variant,,ENST00000461578,;PPIEL,upstream_gene_variant,,ENST00000427240,;	uc010oiv.1	c.1532C>T	2325/3048	1	1			c.1532C>T						1	SNP	c.(1531-1533)GCT>GTT	59	59				0	Broad	poly A binding protein, cytoplasmic 4 isoform 2			40029374		0.572	ENSG00000090621	11175	g.chr1:40029374G>A	blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding							88.391394	KEEP	29	12	-1	47	42	29	12	-1	92.032064	47	42	0.300971	1	0	0	0	0	1	0	0	0	--	--		0	A			PABPC4_uc001cdl.2_Missense_Mutation_p.A527V|PABPC4_uc001cdm.2_Missense_Mutation_p.A498V	202	GBM-27-2524-TP	p.A511V	G	AGCAGCAACAGCAGCGCGTGG	NM_003819	NP_003810	40029374	Q13310	PABP4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		12	2430	-	A	A	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	Missense_Mutation	511			Poly-Ala.			
PABPC4	0	broad.mit.edu	GRCh37	1	40038250	40038250	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372857.3:c.202G>A	p.Ala68Thr	p.A68T	ENST00000372857	NM_003819.3	68	Gct/Act	0			1			T	A/T	uc010oiv.1	protein_coding		CCDS438.1			202/1935										0	c.(202-204)GCT>ACT			PROSITE_profiles:PS50102,hmmpanther:PTHR24011:SF265,hmmpanther:PTHR24011,Gene3D:3.30.70.330,TIGRFAM_domain:TIGR01628,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928	poly A binding protein, cytoplasmic 4 isoform 2				ENSP00000361948		16-Feb									COSM3400771,COSM3400770	16-Feb	.		ENST00000372857	Transcript			blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	ENSG00000090621	g.chr1:40038250C>T	8557			MODERATE		3.65	high	getma.org/?cm=msa&ty=f&p=PABP4_HUMAN&rb=13&re=83&var=A68T	getma.org/pdb.php?prot=PABP4_HUMAN&from=13&to=83&var=A68T	getma.org/?cm=var&var=hg19,1,40038250,C,T&fts=all	A68T	--	--	1																																		PABPC4_uc001cdl.2_Missense_Mutation_p.A68T|PABPC4_uc001cdm.2_Missense_Mutation_p.A68T	1,1			possibly_damaging(0.828)	p.A68T	NM_003819	NP_003810		deleterious(0)	1,1	PABP4_HUMAN	PABPC4	HGNC	Q13310	PABP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		B1ANR1_HUMAN		2	1100	-	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	UPI00001311AD	68			RRM 1.		SNV	PABPC4,missense_variant,p.Ala68Thr,ENST00000372857,NM_003819.3;PABPC4,missense_variant,p.Ala68Thr,ENST00000372856,NM_001135654.1;PABPC4,missense_variant,p.Ala68Thr,ENST00000372858,NM_001135653.1;PABPC4,missense_variant,p.Ala68Thr,ENST00000372862,;PABPC4,missense_variant,p.Ala68Thr,ENST00000451091,;PABPC4,upstream_gene_variant,,ENST00000421687,;PABPC4,upstream_gene_variant,,ENST00000527718,;PABPC4,upstream_gene_variant,,ENST00000474378,;PABPC4,downstream_gene_variant,,ENST00000531243,;RP11-69E11.8,non_coding_transcript_exon_variant,,ENST00000415255,;PABPC4,upstream_gene_variant,,ENST00000529216,;PABPC4,missense_variant,p.Ala12Thr,ENST00000470443,;PABPC4,upstream_gene_variant,,ENST00000513632,;PABPC4,upstream_gene_variant,,ENST00000525669,;PABPC4,upstream_gene_variant,,ENST00000525751,;PABPC4,upstream_gene_variant,,ENST00000492519,;	uc010oiv.1	c.202G>A	995/3048	1	1			c.202G>A						1	SNP	c.(202-204)GCT>ACT	5	5				0	Broad	poly A binding protein, cytoplasmic 4 isoform 2			40038250		0.463	ENSG00000090621	11175	g.chr1:40038250C>T	blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding							-25.618	KEEP	0	4	-1	65	85	0	4	-1	7.19424	65	85	0.02963	1	0	0	0	0	1	0	0	0	--	--		0	T			PABPC4_uc001cdl.2_Missense_Mutation_p.A68T|PABPC4_uc001cdm.2_Missense_Mutation_p.A68T	207	GBM-28-1753-TP	p.A68T	C	GTGTCCAAAGCCCGCTCAGCT	NM_003819	NP_003810	40038250	Q13310	PABP4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		2	1100	-	T	T	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	Missense_Mutation	68			RRM 1.			
PABPC4	0	broad.mit.edu	GRCh37	1	40030160	40030160	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs139185037		TCGA-76-4929-01	TCGA-76-4929-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372857.3:c.1388G>A	p.Arg463His	p.R463H	ENST00000372857	NM_003819.3	463	cGc/cAc	0	T:0.0002		1			T	R/H	uc010oiv.1	protein_coding		CCDS438.1			1388/1935										0	c.(1387-1389)CGC>CAC			hmmpanther:PTHR24011:SF265,hmmpanther:PTHR24011,TIGRFAM_domain:TIGR01628	poly A binding protein, cytoplasmic 4 isoform 2			T:0	ENSP00000361948		16-Oct	1.65E-05	9.61E-05				1.50E-05			rs139185037,COSM1219092,COSM3400769	16-Oct	.		ENST00000372857	Transcript			blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	ENSG00000090621	g.chr1:40030160C>T	8557			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=PABP4_HUMAN&rb=365&re=551&var=R463H	NA	getma.org/?cm=var&var=hg19,1,40030160,C,T&fts=all	R463H	--	--	1																																		PABPC4_uc001cdl.2_Missense_Mutation_p.R463H|PABPC4_uc001cdm.2_Missense_Mutation_p.R463H	0,1,1			benign(0.34)	p.R463H	NM_003819	NP_003810		tolerated(0.16)	0,1,1	PABP4_HUMAN	PABPC4	HGNC	Q13310	PABP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		B1ANR1_HUMAN		10	2286	-	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	UPI00001311AD	463					SNV	PABPC4,missense_variant,p.Arg463His,ENST00000372857,NM_003819.3;PABPC4,missense_variant,p.Arg463His,ENST00000372856,NM_001135654.1;PABPC4,missense_variant,p.Arg463His,ENST00000372858,NM_001135653.1;PABPC4,missense_variant,p.Arg463His,ENST00000372862,;PABPC4,missense_variant,p.Arg365His,ENST00000421687,;PABPC4,missense_variant,p.Arg2His,ENST00000437136,;PABPC4,missense_variant,p.Arg185His,ENST00000527718,;PABPC4,downstream_gene_variant,,ENST00000474378,;PABPC4,upstream_gene_variant,,ENST00000530186,;SNORA55,downstream_gene_variant,,ENST00000364587,NR_002983.1;RP11-69E11.8,upstream_gene_variant,,ENST00000415255,;PABPC4,downstream_gene_variant,,ENST00000529216,;PABPC4,non_coding_transcript_exon_variant,,ENST00000468476,;PABPC4,non_coding_transcript_exon_variant,,ENST00000525045,;PABPC4,non_coding_transcript_exon_variant,,ENST00000525669,;PABPC4,non_coding_transcript_exon_variant,,ENST00000483770,;PABPC4,non_coding_transcript_exon_variant,,ENST00000477556,;PABPC4,non_coding_transcript_exon_variant,,ENST00000461578,;PABPC4,upstream_gene_variant,,ENST00000492468,;PABPC4,downstream_gene_variant,,ENST00000470443,;PABPC4,downstream_gene_variant,,ENST00000513632,;PABPC4,upstream_gene_variant,,ENST00000482028,;PABPC4,downstream_gene_variant,,ENST00000525751,;PABPC4,upstream_gene_variant,,ENST00000484555,;	uc010oiv.1	c.1388G>A	2181/3048	1	1			c.1388G>A						1	SNP	c.(1387-1389)CGC>CAC	11	11				0	Broad	poly A binding protein, cytoplasmic 4 isoform 2			40030160		0.542	ENSG00000090621	11175	g.chr1:40030160C>T	blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding							148.394337	KEEP	35	35	-1	66	46	35	35	-1	150.674593	66	46	0.367347	1	0	0	0	0	1	0	0	0	--	--		0	T			PABPC4_uc001cdl.2_Missense_Mutation_p.R463H|PABPC4_uc001cdm.2_Missense_Mutation_p.R463H	269	GBM-76-4929-TP	p.R463H	C	AGCCAGATGGCGAAGAGTTGG	NM_003819	NP_003810	40030160	Q13310	PABP4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		10	2286	-	T	T	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	Missense_Mutation	463						
PABPC5	140886		GRCh37	X	90690820	90690820	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000312600.3:c.244G>T	p.Asp82Tyr	p.D82Y	ENST00000312600	NM_080832.2	82	Gat/Tat	0																																																																																																																																																																																																																																												
PABPC5	140886		GRCh37	X	90690988	90690988	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000312600.3:c.412G>A	p.Val138Ile	p.V138I	ENST00000312600	NM_080832.2	138	Gta/Ata	0																																																																																																																																																																																																																																												
PACRG	135138	broad.mit.edu	GRCh37	6	163235289	163235289	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0213-01	TCGA-06-0213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337019.3:c.267G>A	p.Ser89=	p.S89=	ENST00000337019	NM_152410.2	89	tcG/tcA	0			1			A	S	uc003qua.2	protein_coding	YES	CCDS5284.1			267/891										0	c.(265-267)TCG>TCA			hmmpanther:PTHR21207,Pfam_domain:PF10274	parkin co-regulated gene protein isoform 1				ENSP00000337946		7-Mar	3.30E-05				0.000151	4.50E-05			rs759185651,COSM2150870	7-Mar	.		ENST00000337019	Transcript	1					ENSG00000112530	g.chr6:163235289G>A	19152			LOW								--	--	1																																		PACRG_uc003qub.2_Silent_p.S89S|PACRG_uc003quc.2_Silent_p.S89S	0,1	1			p.S89S	NM_152410	NP_689623			0,1	PACRG_HUMAN	PACRG	HGNC	Q96M98	PACRG_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)			3	491	+		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)	UPI00001AE671	89					SNV	PACRG,synonymous_variant,p.=,ENST00000337019,NM_152410.2;PACRG,synonymous_variant,p.=,ENST00000366889,NM_001080378.1;PACRG,synonymous_variant,p.=,ENST00000366888,NM_001080379.1;PACRG,synonymous_variant,p.=,ENST00000534958,;PACRG,non_coding_transcript_exon_variant,,ENST00000542669,;PACRG,synonymous_variant,p.=,ENST00000541974,;PACRG,non_coding_transcript_exon_variant,,ENST00000544266,;	uc003qua.2	c.267G>A	491/1619	2	2			c.267G>A						6	SNP	c.(265-267)TCG>TCA	32	32				0	Broad	parkin co-regulated gene protein isoform 1			163235289		0.517	ENSG00000112530	11179	g.chr6:163235289G>A										259.430756	KEEP	41	56	-1	95	94	41	56	-1	264.54737	95	94	0.351145	1	0	0	0	0	0	0	1	0	--	--		0	A			PACRG_uc003qub.2_Silent_p.S89S|PACRG_uc003quc.2_Silent_p.S89S	49	GBM-06-0213-TP	p.S89S	G	AGCATGATTCGAAAGGAAACA	NM_152410	NP_689623	163235289	Q96M98	PACRG_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)	3	491	+	A	A		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)	Silent	89						
PACRG	0	broad.mit.edu	GRCh37	6	163235309	163235309	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-32-2634-01	TCGA-32-2634-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337019.3:c.287G>A	p.Trp96Ter	p.W96*	ENST00000337019	NM_152410.2	96	tGg/tAg	0			1			A	W/*	uc003qua.2	protein_coding	YES	CCDS5284.1			287/891										0	c.(286-288)TGG>TAG			hmmpanther:PTHR21207,Pfam_domain:PF10274	parkin co-regulated gene protein isoform 1				ENSP00000337946		7-Mar									COSM3410770	7-Mar	.		ENST00000337019	Transcript	1					ENSG00000112530	g.chr6:163235309G>A	19152			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,6,163235309,G,A&fts=all	W96*	--	--	1																																		PACRG_uc003qub.2_Nonsense_Mutation_p.W96*|PACRG_uc003quc.2_Nonsense_Mutation_p.W96*	1	1			p.W96*	NM_152410	NP_689623			1	PACRG_HUMAN	PACRG	HGNC	Q96M98	PACRG_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)			3	511	+		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)	UPI00001AE671	96					SNV	PACRG,stop_gained,p.Trp96Ter,ENST00000337019,NM_152410.2;PACRG,stop_gained,p.Trp96Ter,ENST00000366889,NM_001080378.1;PACRG,stop_gained,p.Trp96Ter,ENST00000366888,NM_001080379.1;PACRG,stop_gained,p.Trp12Ter,ENST00000534958,;PACRG,non_coding_transcript_exon_variant,,ENST00000542669,;PACRG,stop_gained,p.Trp43Ter,ENST00000541974,;PACRG,non_coding_transcript_exon_variant,,ENST00000544266,;	uc003qua.2	c.287G>A	511/1619	5	2			c.287G>A						6	SNP	c.(286-288)TGG>TAG	30	30				0	Broad	parkin co-regulated gene protein isoform 1			163235309		0.488	ENSG00000112530	11179	g.chr6:163235309G>A										267.657773	KEEP	45	47	-1	47	63	45	47	-1	267.85875	47	63	0.464481	1	0	0	0	0	0	1	0	0	--	--		0	A			PACRG_uc003qub.2_Nonsense_Mutation_p.W96*|PACRG_uc003quc.2_Nonsense_Mutation_p.W96*	241	GBM-32-2634-TP	p.W96*	G	AAAATCGCCTGGAAGGTAAGT	NM_152410	NP_689623	163235309	Q96M98	PACRG_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)	3	511	+	A	A		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)	Nonsense_Mutation	96						
PACRG	0	broad.mit.edu	GRCh37	6	163510341	163510341	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01	TCGA-76-4927-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337019.3:c.514C>T	p.Leu172Phe	p.L172F	ENST00000337019	NM_152410.2	172	Ctc/Ttc	0			1			T	L/F	uc003qua.2	protein_coding	YES	CCDS5284.1			514/891										0	c.(514-516)CTC>TTC			hmmpanther:PTHR21207,Pfam_domain:PF10274	parkin co-regulated gene protein isoform 1				ENSP00000337946		7-May									COSM3410771	7-May	.		ENST00000337019	Transcript	1					ENSG00000112530	g.chr6:163510341C>T	19152			MODERATE		3.07	medium	getma.org/?cm=msa&ty=f&p=PACRG_HUMAN&rb=70&re=218&var=L172F	NA	getma.org/?cm=var&var=hg19,6,163510341,C,T&fts=all	L172F	--	--	1																																		PACRG_uc003qub.2_Missense_Mutation_p.L172F|PACRG_uc003quc.2_Missense_Mutation_p.L172F	1	1		probably_damaging(0.945)	p.L172F	NM_152410	NP_689623		deleterious(0)	1	PACRG_HUMAN	PACRG	HGNC	Q96M98	PACRG_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)			5	738	+		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)	UPI00001AE671	172					SNV	PACRG,missense_variant,p.Leu172Phe,ENST00000337019,NM_152410.2;PACRG,missense_variant,p.Leu172Phe,ENST00000366889,NM_001080378.1;PACRG,missense_variant,p.Leu172Phe,ENST00000366888,NM_001080379.1;PACRG,missense_variant,p.Leu88Phe,ENST00000534958,;PACRG,missense_variant,p.Leu30Phe,ENST00000542936,;PACRG,non_coding_transcript_exon_variant,,ENST00000545186,;PACRG,3_prime_UTR_variant,,ENST00000541974,;	uc003qua.2	c.514C>T	738/1619	2	2			c.514C>T						6	SNP	c.(514-516)CTC>TTC	29	29				0	Broad	parkin co-regulated gene protein isoform 1			163510341		0.448	ENSG00000112530	11179	g.chr6:163510341C>T										231.34962	KEEP	43	44	-1	95	108	43	44	-1	239.499509	95	108	0.309524	1	0	0	0	0	1	0	0	0	--	--		0	T			PACRG_uc003qub.2_Missense_Mutation_p.L172F|PACRG_uc003quc.2_Missense_Mutation_p.L172F	267	GBM-76-4927-TP	p.L172F	C	TCTCAAGGTCCTCCAGCATCT	NM_152410	NP_689623	163510341	Q96M98	PACRG_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)	5	738	+	T	T		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)	Missense_Mutation	172						
PACS1	55690	broad.mit.edu	GRCh37	11	65988123	65988123	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0152-01	TCGA-06-0152-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320580.4:c.1060G>A	p.Val354Met	p.V354M	ENST00000320580	NM_018026.3	354	Gtg/Atg	0			1			A	V/M	uc001oha.1	protein_coding	YES	CCDS8129.1			1060/2892									ovary(6)	6	c.(1060-1062)GTG>ATG			hmmpanther:PTHR13280:SF16,hmmpanther:PTHR13280	phosphofurin acidic cluster sorting protein 1				ENSP00000316454		24-Sep									COSM2149896	24-Sep	.		ENST00000320580	Transcript	1		interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	ENSG00000175115	g.chr11:65988123G>A	30032			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=PACS1_HUMAN&rb=280&re=479&var=V354M	NA	getma.org/?cm=var&var=hg19,11,65988123,G,A&fts=all	V354M	--	--	1																																			1	1		possibly_damaging(0.809)	p.V354M	NM_018026	NP_060496		tolerated(0.11)	1	PACS1_HUMAN	PACS1	HGNC	Q6VY07	PACS1_HUMAN			Q9NTH2_HUMAN,E9PSG7_HUMAN,E9PSE1_HUMAN,E9PNZ9_HUMAN,B4DF77_HUMAN		9	1194	+			UPI0000190973	354			Potential.		SNV	PACS1,missense_variant,p.Val354Met,ENST00000320580,NM_018026.3;PACS1,downstream_gene_variant,,ENST00000527380,;PACS1,3_prime_UTR_variant,,ENST00000531298,;PACS1,3_prime_UTR_variant,,ENST00000524784,;PACS1,non_coding_transcript_exon_variant,,ENST00000533811,;PACS1,downstream_gene_variant,,ENST00000527224,;PACS1,upstream_gene_variant,,ENST00000534273,;	uc001oha.1	c.1060G>A	1093/4392	2	2			c.1060G>A						11	SNP	c.(1060-1062)GTG>ATG	17	17			ovary(6)	6	Broad	phosphofurin acidic cluster sorting protein 1			65988123		0.517	ENSG00000175115	11181	g.chr11:65988123G>A	interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding							39.033578	KEEP	11	11	-1	33	34	11	11	-1	43.991863	33	34	0.22973	1	0	0	0	0	1	0	0	0	--	--		0	A				25	GBM-06-0152-TP	p.V354M	G	GCTGGAGCATGTGTCCCGCGA	NM_018026	NP_060496	65988123	Q6VY07	PACS1_HUMAN	0			9	1194	+	A	A			Missense_Mutation	354			Potential.			
PACS1	55690		GRCh37	11	65977846	65977846	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000320580.4:c.458T>C	p.Ile153Thr	p.I153T	ENST00000320580	NM_018026.3	153	aTt/aCt	0																																																																																																																																																																																																																																												
PACS2	0	broad.mit.edu	GRCh37	14	105859121	105859121	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-19-2620-01	TCGA-19-2620-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325438.8:c.2376C>G	p.Gly792=	p.G792=	ENST00000325438		792	ggC/ggG	0			1			G	G	uc001yqt.2	protein_coding		CCDS32168.1			2376/2670									pancreas(1)	1	c.(2374-2376)GGC>GGG			Pfam_domain:PF10254,hmmpanther:PTHR13280,hmmpanther:PTHR13280:SF15	phosphofurin acidic cluster sorting protein 2				ENSP00000321834		22/24									COSM3747950	22/24	.		ENST00000325438	Transcript			apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		ENSG00000179364	g.chr14:105859121C>G	23794			LOW								--	--	1																																		PACS2_uc001yqs.2_Silent_p.G717G|PACS2_uc001yqv.2_Silent_p.G796G|PACS2_uc001yqu.2_Silent_p.G807G	1				p.G792G	NM_015197	NP_056012			1	PACS2_HUMAN	PACS2	HGNC	Q86VP3	PACS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	F8W0V0_HUMAN,F8W0B1_HUMAN		22	2551	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	UPI00001FDD1A	792					SNV	PACS2,synonymous_variant,p.=,ENST00000447393,NM_015197.3;PACS2,synonymous_variant,p.=,ENST00000325438,;PACS2,synonymous_variant,p.=,ENST00000458164,NM_001100913.2;PACS2,synonymous_variant,p.=,ENST00000430725,NM_001243127.1;PACS2,synonymous_variant,p.=,ENST00000547217,;PACS2,synonymous_variant,p.=,ENST00000551743,;PACS2,5_prime_UTR_variant,,ENST00000551801,;PACS2,non_coding_transcript_exon_variant,,ENST00000551692,;PACS2,non_coding_transcript_exon_variant,,ENST00000548796,;PACS2,non_coding_transcript_exon_variant,,ENST00000550790,;PACS2,downstream_gene_variant,,ENST00000549030,;PACS2,downstream_gene_variant,,ENST00000547903,;AL928654.1,upstream_gene_variant,,ENST00000542059,;	uc001yqt.2	c.2376C>G	2880/3708	3	3			c.2376C>G						14	SNP	c.(2374-2376)GGC>GGG	49	49			pancreas(1)	1	Broad	phosphofurin acidic cluster sorting protein 2			105859121		0.612	ENSG00000179364	11182	g.chr14:105859121C>G	apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion								54.545578	KEEP	12	6	-1	28	36	12	6	-1	57.682508	28	36	0.272727	1	0	0	0	0	0	0	1	0	--	--		0	G			PACS2_uc001yqs.2_Silent_p.G717G|PACS2_uc001yqv.2_Silent_p.G796G|PACS2_uc001yqu.2_Silent_p.G807G	162	GBM-19-2620-TP	p.G792G	C	CCAGCAGCGGCGAGGCTGCAG	NM_015197	NP_056012	105859121	Q86VP3	PACS2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	22	2551	+	G	G		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	Silent	792						
PADI3	51702	broad.mit.edu	GRCh37	1	17575699	17575699	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375460.3:c.67G>A	p.Val23Met	p.V23M	ENST00000375460	NM_016233.2	23	Gtg/Atg	0		A:0	1	A:0.0029		A	V/M	uc001bai.2	protein_coding	YES	CCDS179.1			67/1995									ovary(1)|breast(1)	2	c.(67-69)GTG>ATG			Pfam_domain:PF08526,PIRSF_domain:PIRSF001247,hmmpanther:PTHR10837,hmmpanther:PTHR10837:SF2,Superfamily_domains:SSF49503	peptidyl arginine deiminase, type III	L-Citrulline(DB00155)	A:0		ENSP00000364609	A:0	16-Jan	2.47E-05		0.000173			1.50E-05			rs200183399,COSM2093647	16-Jan	.		ENST00000375460	Transcript		A:0.0004	peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	ENSG00000142619	g.chr1:17575699G>A	18337			MODERATE		0.66	neutral	getma.org/?cm=msa&ty=f&p=PADI3_HUMAN&rb=1&re=113&var=V23M	getma.org/pdb.php?prot=PADI3_HUMAN&from=1&to=113&var=V23M	getma.org/?cm=var&var=hg19,1,17575699,G,A&fts=all	V23M	--	--	1																																			0,1	1		benign(0.117)	p.V23M	NM_016233	NP_057317	A:0	tolerated(0.15)	0,1	PADI3_HUMAN	PADI3	HGNC	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)			1	107	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	UPI000013D8A0	23					SNV	PADI3,missense_variant,p.Val23Met,ENST00000375460,NM_016233.2;PADI1,downstream_gene_variant,,ENST00000375471,NM_013358.2;PADI1,downstream_gene_variant,,ENST00000536552,;PADI1,downstream_gene_variant,,ENST00000413717,;PADI1,downstream_gene_variant,,ENST00000537499,;PADI1,downstream_gene_variant,,ENST00000460293,;	uc001bai.2	c.67G>A	107/3189	2	2			c.67G>A						1	SNP	c.(67-69)GTG>ATG	32	32			ovary(1)|breast(1)	2	Broad	peptidyl arginine deiminase, type III		L-Citrulline(DB00155)	17575699		0.617	ENSG00000142619	11188	g.chr1:17575699G>A	peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity							86.633783	KEEP	19	21	-1	49	38	19	21	-1	89.995704	49	38	0.311321	1	0	0	0	0	1	0	0	0	--	--		0	A				23	GBM-06-0145-TP	p.V23M	G	TGTGGCTGGCGTGGAGACCCT	NM_016233	NP_057317	17575699	Q9ULW8	PADI3_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	1	107	+	A	A		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	23						
PADI3	0	broad.mit.edu	GRCh37	1	17609431	17609431	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs144763474	byFrequency	TCGA-19-5955-01	TCGA-19-5955-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375460.3:c.1852C>T	p.Arg618Trp	p.R618W	ENST00000375460	NM_016233.2	618	Cgg/Tgg	0	T:0.0048	T:0.0023	1	T:0		T	R/W	uc001bai.2	protein_coding	YES	CCDS179.1			1852/1995									ovary(1)|breast(1)	2	c.(1852-1854)CGG>TGG			Pfam_domain:PF03068,PIRSF_domain:PIRSF001247,hmmpanther:PTHR10837,hmmpanther:PTHR10837:SF2,Superfamily_domains:SSF55909	peptidyl arginine deiminase, type III	L-Citrulline(DB00155)	T:0	T:0	ENSP00000364609	T:0	16/16	0.000288	0.00323				3.03E-05			rs144763474	16/16	common_variant		ENST00000375460	Transcript		T:0.0006	peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	ENSG00000142619	g.chr1:17609431C>T	18337			MODERATE		2.9	medium	getma.org/?cm=msa&ty=f&p=PADI3_HUMAN&rb=278&re=664&var=R618W	getma.org/pdb.php?prot=PADI3_HUMAN&from=278&to=664&var=R618W	getma.org/?cm=var&var=hg19,1,17609431,C,T&fts=all	R618W	--	--	1																																				1		possibly_damaging(0.883)	p.R618W	NM_016233	NP_057317	T:0	deleterious(0.04)		PADI3_HUMAN	PADI3	HGNC	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)			16	1892	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	UPI000013D8A0	618					SNV	PADI3,missense_variant,p.Arg618Trp,ENST00000375460,NM_016233.2;MIR3972,downstream_gene_variant,,ENST00000582732,;	uc001bai.2	c.1852C>T	1892/3189	2	2			c.1852C>T						1	SNP	c.(1852-1854)CGG>TGG	45	45			ovary(1)|breast(1)	2	Broad	peptidyl arginine deiminase, type III		L-Citrulline(DB00155)	17609431		0.602	ENSG00000142619	11188	g.chr1:17609431C>T	peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity							10.379874	KEEP	7	2	-1	25	29	7	2	-1	18.194024	25	29	0.133333	1	0	0	0	0	1	0	0	0	--	--		0	T				175	GBM-19-5955-TP	p.R618W	C	GGAGAAGGTGCGGTCCCTGCT	NM_016233	NP_057317	17609431	Q9ULW8	PADI3_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	16	1892	+	T	T		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	618						
PADI6	0	broad.mit.edu	GRCh37	1	17699701	17699701	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A			TCGA-12-0688-01	TCGA-12-0688-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000434762.2:n.317G>A		*106*	ENST00000434762				0			1			A		uc001bak.1	processed_transcript	YES													breast(1)	1	c.(265-267)TCG>TCA				peptidylarginine deiminase type 6	L-Citrulline(DB00155)					16-Feb	8.25E-06							6.07E-05	rs752925449,COSM3400021	16-Feb	.		ENST00000434762	Transcript			peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	ENSG00000256049	g.chr1:17699701G>A	20449			MODIFIER								--	--	1																																			0,1	1			p.S89S	NM_207421	NP_997304			0,1		PADI6	HGNC	Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)			2	267	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		81					SNV	PADI6,non_coding_transcript_exon_variant,,ENST00000434762,;PADI6,non_coding_transcript_exon_variant,,ENST00000358481,;	uc001bak.1	c.267G>A	317/2397	2	2			c.267G>A						1	SNP	c.(265-267)TCG>TCA	32	32			breast(1)	1	Broad	peptidylarginine deiminase type 6		L-Citrulline(DB00155)	17699701		0.602	ENSG00000256049	11190	g.chr1:17699701G>A	peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity							87.297474	KEEP	22	19	-1	21	40	22	19	-1	88.023858	21	40	0.402299	1	0	0	0	0	0	0	1	0	--	--		0	A				121	GBM-12-0688-TP	p.S89S	G	AGATGACATCGCCCAGCCCTT	NM_207421	NP_997304	17699701	Q6TGC4	PADI6_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	2	267	+	A	A		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	Silent	81						
PADI6	353238		GRCh37	1	17708559	17708559	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000434762.2:n.701G>A		p.*234*	ENST00000434762				0																																																																																																																																																																																																																																												
PAEP	0	broad.mit.edu	GRCh37	9	138453719	138453719	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-27-1838-01	TCGA-27-1838-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000277508.5:c.72C>A	p.Thr24=	p.T24=	ENST00000277508	NM_001018049.1	24	acC/acA	0			1			A	T	uc004cge.1	protein_coding		CCDS35173.1			72/543										0	c.(70-72)ACC>ACA			hmmpanther:PTHR11430:SF67,hmmpanther:PTHR11430,Gene3D:2.40.128.20,Superfamily_domains:SSF50814,Prints_domain:PR01172	glycodelin precursor				ENSP00000277508		7-Jan									COSM3413448	7-Jan	.		ENST00000277508	Transcript			multicellular organismal development	extracellular region	binding|transporter activity	ENSG00000122133	g.chr9:138453719C>A	8573			LOW								--	--	1																																		PAEP_uc010naw.1_Silent_p.T24T|PAEP_uc010naz.2_RNA|PAEP_uc010nay.2_Silent_p.T24T|PAEP_uc010nba.1_Silent_p.T24T|PAEP_uc004cgd.1_Silent_p.T24T|PAEP_uc011mdp.1_Silent_p.T24T|PAEP_uc004cgg.1_Silent_p.T24T|PAEP_uc010nbc.1_Silent_p.T24T|PAEP_uc004cgf.1_Silent_p.T24T	1				p.T24T	NM_001018049	NP_001018059			1	PAEP_HUMAN	PAEP	HGNC	P09466	PAEP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)	Q5T6T6_HUMAN		1	116	+			UPI0000038E3A	24					SNV	PAEP,synonymous_variant,p.=,ENST00000479141,NM_002571.2;PAEP,synonymous_variant,p.=,ENST00000371766,;PAEP,synonymous_variant,p.=,ENST00000433563,;PAEP,synonymous_variant,p.=,ENST00000277508,NM_001018049.1;PAEP,upstream_gene_variant,,ENST00000454923,;PAEP,upstream_gene_variant,,ENST00000457014,;PAEP,upstream_gene_variant,,ENST00000418284,;PAEP,synonymous_variant,p.=,ENST00000371768,;	uc004cge.1	c.72C>A	97/821	2	2			c.72C>A						9	SNP	c.(70-72)ACC>ACA	39	39				0	Broad	glycodelin precursor			138453719		0.682	ENSG00000122133	11191	g.chr9:138453719C>A	multicellular organismal development	extracellular region	binding|transporter activity							14.971672	KEEP	4	2	0.333333333	2	6	4	2	0.333333333	15.123516	2	6	0.384615	1	0	0	0	0	0	0	1	0	--	--		0	A			PAEP_uc010naw.1_Silent_p.T24T|PAEP_uc010naz.2_RNA|PAEP_uc010nay.2_Silent_p.T24T|PAEP_uc010nba.1_Silent_p.T24T|PAEP_uc004cgd.1_Silent_p.T24T|PAEP_uc011mdp.1_Silent_p.T24T|PAEP_uc004cgg.1_Silent_p.T24T|PAEP_uc010nbc.1_Silent_p.T24T|PAEP_uc004cgf.1_Silent_p.T24T	197	GBM-27-1838-TP	p.T24T	C	TCCCCCAGACCAAGCAGGACC	NM_001018049	NP_001018059	138453719	P09466	PAEP_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)	1	116	+	A	A			Silent	24						
PAFAH2	5051	broad.mit.edu	GRCh37	1	26314754	26314754	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0125-01	TCGA-06-0125-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374282.3:c.309G>C	p.Leu103Phe	p.L103F	ENST00000374282	NM_000437.3	103	ttG/ttC	0			1			G	L/F	uc001bld.3	protein_coding	YES	CCDS270.1			309/1179									ovary(2)	2	c.(307-309)TTG>TTC			hmmpanther:PTHR10272:SF6,hmmpanther:PTHR10272,Pfam_domain:PF03403,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF018169,Superfamily_domains:SSF53474	platelet-activating factor acetylhydrolase 2				ENSP00000363400		11-Apr									COSM2149352	11-Apr	.		ENST00000374282	Transcript			lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	ENSG00000158006	g.chr1:26314754C>G	8579			MODERATE		2.56	medium	getma.org/?cm=msa&ty=f&p=PAFA2_HUMAN&rb=1&re=381&var=L103F	getma.org/pdb.php?prot=PAFA2_HUMAN&from=1&to=381&var=L103F	getma.org/?cm=var&var=hg19,1,26314754,C,G&fts=all	L103F	--	--	1																																		PAFAH2_uc001ble.3_Missense_Mutation_p.L103F	1	1		probably_damaging(1)	p.L103F	NM_000437	NP_000428		deleterious(0.01)	1	PAFA2_HUMAN	PAFAH2	HGNC	Q99487	PAFA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)	Q5SY01_HUMAN		4	489	-		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	UPI00001311EB	103					SNV	PAFAH2,missense_variant,p.Leu103Phe,ENST00000374282,NM_000437.3;PAFAH2,missense_variant,p.Leu103Phe,ENST00000374284,;PAFAH2,missense_variant,p.Leu103Phe,ENST00000439092,;PAFAH2,missense_variant,p.Leu103Phe,ENST00000441420,;PAFAH2,intron_variant,,ENST00000493892,;PAFAH2,intron_variant,,ENST00000464540,;PAFAH2,upstream_gene_variant,,ENST00000476611,;	uc001bld.3	c.309G>C	489/3581	4	4			c.309G>C						1	SNP	c.(307-309)TTG>TTC	26	26			ovary(2)	2	Broad	platelet-activating factor acetylhydrolase 2			26314754		0.517	ENSG00000158006	11196	g.chr1:26314754C>G	lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding							307.909592	KEEP	45	53	-1	70	98	45	53	-1	311.232523	70	98	0.37395	1	0	0	0	0	1	0	0	0	--	--		0	G			PAFAH2_uc001ble.3_Missense_Mutation_p.L103F	12	GBM-06-0125-TP	p.L103F	C	AGAAGATGATCAAGGGGTATC	NM_000437	NP_000428	26314754	Q99487	PAFA2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)	4	489	-	G	G		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	Missense_Mutation	103						
PAGE1	8712	broad.mit.edu	GRCh37	X	49455937	49455937	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0939-01	TCGA-06-0939-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376150.3:c.207A>G	p.Pro69=	p.P69=	ENST00000376150	NM_003785.3	69	ccA/ccG	0			1			C	P	uc004dom.2	protein_coding	YES	CCDS14327.1			207/441									skin(1)	1	c.(205-207)CCA>CCG			hmmpanther:PTHR14047:SF3,hmmpanther:PTHR14047,Pfam_domain:PF05831	P antigen family, member 1				ENSP00000365320		6-Apr									COSM2152409	6-Apr	.		ENST00000376150	Transcript			cellular defense response			ENSG00000068985	g.chrX:49455937T>C	4107			LOW								--	--	1																																			1	1			p.P69P	NM_003785	NP_003776			1	PAGE1_HUMAN	PAGE1	HGNC	O75459	GAGB1_HUMAN					4	340	-	Ovarian(276;0.236)		UPI000013C5CB	69					SNV	PAGE1,synonymous_variant,p.=,ENST00000376150,NM_003785.3;	uc004dom.2	c.207A>G	340/665	3	3			c.207A>G						23	SNP	c.(205-207)CCA>CCG	14	14			skin(1)	1	Broad	P antigen family, member 1			49455937		0.438	ENSG00000068985	11198	g.chrX:49455937T>C	cellular defense response									49.330015	KEEP	10	11	-1	21	40	10	11	-1	53.41058	21	40	0.25	1	0	0	0	0	0	0	1	0	--	--		0	C				78	GBM-06-0939-TP	p.P69P	T	ACCCAGTCTTTGGCTGAACCA	NM_003785	NP_003776	49455937	O75459	GAGB1_HUMAN	0			4	340	-	C	C	Ovarian(276;0.236)		Silent	69						
PAGE2B	389860	broad.mit.edu	GRCh37	X	55103027	55103027	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0875-01	TCGA-06-0875-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374971.1:c.110G>A	p.Arg37His	p.R37H	ENST00000374971	NM_001015038.2	37	cGt/cAt	0			1			A	R/H	uc004due.2	protein_coding	YES	CCDS35304.1			110/336										0	c.(109-111)CGT>CAT			Low_complexity_(Seg):seg,hmmpanther:PTHR14047:SF9,hmmpanther:PTHR14047,Pfam_domain:PF05831	P antigen family, member 2B				ENSP00000364110		5-Mar									COSM2152034	5-Mar	.		ENST00000374971	Transcript						ENSG00000238269	g.chrX:55103027G>A	31805			MODERATE		1.95	medium	getma.org/?cm=msa&ty=f&p=GGEE3_HUMAN&rb=4&re=111&var=R37H	NA	getma.org/?cm=var&var=hg19,X,55103027,G,A&fts=all	R37H	--	--	1																																			1	1		benign(0.025)	p.R37H	NM_001015038	NP_001015038		tolerated(0.13)	1	GGEE3_HUMAN	PAGE2B	HGNC	Q5JRK9	GGEE3_HUMAN					3	162	+			UPI0000040ABA	37					SNV	PAGE2B,missense_variant,p.Arg37His,ENST00000374971,NM_001015038.2;PAGE2B,missense_variant,p.Arg37His,ENST00000374974,;	uc004due.2	c.110G>A	162/493	2	2			c.110G>A						23	SNP	c.(109-111)CGT>CAT	25	25				0	Broad	P antigen family, member 2B			55103027		0.443	ENSG00000238269	11200	g.chrX:55103027G>A										37.795722	KEEP	10	7	-1	17	17	10	7	-1	37.920294	17	17	0.428571	1	0	0	0	0	1	0	0	0	--	--		0	A				71	GBM-06-0875-TP	p.R37H	G	GAGGAAAAACGTCAAGAAGAG	NM_001015038	NP_001015038	55103027	Q5JRK9	GGEE3_HUMAN	0			3	162	+	A	A			Missense_Mutation	37						
PAGR1	0	broad.mit.edu	GRCh37	16	29827999	29828009	+	frameshift_variant	Frame_Shift_Del	DEL	AGGAGGCCGAG	AGGAGGCCGAG	-			TCGA-12-0688-01	TCGA-12-0688-01	AGGAGGCCGAG	AGGAGGCCGAG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320330.6:c.158_168delGCCGAGAGGAG	p.Gly53AspfsTer4	p.G53Dfs*4	ENST00000320330		51	gaAGGAGGCCGAGag/gaag	0			1			-	EGGRE/EX	uc002dug.3	protein_coding	YES	CCDS10655.1			153-163/765										0	c.(151-165)GAAGGAGGCCGAGAGfs			Low_complexity_(Seg):seg	PTIP-associated 1 protein				ENSP00000326519		3-Jan										3-Jan	.		ENST00000320330	Transcript						ENSG00000185928	g.chr16:29827999_29828009delAGGAGGCCGAG	28707	5		HIGH								--	--	1																																OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron		1			p.E51fs	NM_024516	NP_078792				PAGR1_HUMAN	PAGR1	HGNC	Q9BTK6	PA1_HUMAN					1	472_482	+			UPI000006FAEB	51_55			Glu-rich.		deletion	PAGR1,frameshift_variant,p.Gly53AspfsTer4,ENST00000320330,;PAGR1,frameshift_variant,p.Gly53AspfsTer4,ENST00000609618,;PRRT2,downstream_gene_variant,,ENST00000300797,;MVP,upstream_gene_variant,,ENST00000357402,NM_017458.3,NM_005115.4;MVP,upstream_gene_variant,,ENST00000395353,;PRRT2,downstream_gene_variant,,ENST00000358758,NM_001256442.1,NM_001256443.1,NM_145239.2;PRRT2,downstream_gene_variant,,ENST00000567659,;MVP,upstream_gene_variant,,ENST00000452209,;MVP,upstream_gene_variant,,ENST00000563915,;MVP,upstream_gene_variant,,ENST00000570234,;PRRT2,downstream_gene_variant,,ENST00000572820,;MVP,upstream_gene_variant,,ENST00000563558,;MVP,upstream_gene_variant,,ENST00000566066,;PRRT2,downstream_gene_variant,,ENST00000562148,;MAZ,downstream_gene_variant,,ENST00000562594,;MVP,upstream_gene_variant,,ENST00000565164,;AC009133.20,intron_variant,,ENST00000569039,;AC009133.14,upstream_gene_variant,,ENST00000569981,;AC009133.12,downstream_gene_variant,,ENST00000569809,;AC009133.12,downstream_gene_variant,,ENST00000564980,;PRRT2,downstream_gene_variant,,ENST00000567551,;MVP,upstream_gene_variant,,ENST00000565830,;MAZ,downstream_gene_variant,,ENST00000568516,;MVP,upstream_gene_variant,,ENST00000566859,;PAGR1,upstream_gene_variant,,ENST00000562285,;MVP,upstream_gene_variant,,ENST00000569887,;MVP,upstream_gene_variant,,ENST00000563096,;MVP,upstream_gene_variant,,ENST00000562463,;	uc002dug.3	c.153_163delAGGAGGCCGAG	715-725/2011	5	5			c.153_163delAGGAGGCCGAG						16	DEL	c.(151-165)GAAGGAGGCCGAGAGfs	51	51				0	Broad	PTIP-associated 1 protein			29828009		0.697	ENSG00000185928	1779	g.chr16:29827999_29828009delAGGAGGCCGAG																							0.27	1	1	0	1	0	0	0	0	0	--	--		0	-	OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron	121	GBM-12-0688-TP	p.E51fs	AGGAGGCCGAG	ACGAGGGGGAAGGAGGCCGAGAGGAGACCGA	NM_024516	NP_078792	29827999	Q9BTK6	PA1_HUMAN	0			1	472_482	+	-	-			Frame_Shift_Del	51_55			Glu-rich.			
PAH	0	broad.mit.edu	GRCh37	12	103246614	103246614	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-12-1597-01	TCGA-12-1597-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000553106.1:c.821A>T	p.Lys274Met	p.K274M	ENST00000553106	NM_000277.1	274	aAg/aTg	0			1			A	K/M	uc001tjq.1	protein_coding	YES	CCDS9092.1			821/1359									ovary(4)	4	c.(820-822)AAG>ATG			Superfamily_domains:SSF56534,PIRSF_domain:PIRSF000336,Pfam_domain:PF00351,TIGRFAM_domain:TIGR01268,Gene3D:1.10.800.10,hmmpanther:PTHR11473,PROSITE_profiles:PS51410	phenylalanine hydroxylase	Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)			ENSP00000448059		13-Jul									COSM3398262	13-Jul	.		ENST00000553106	Transcript	1		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	ENSG00000171759	g.chr12:103246614T>A	8582			MODERATE		1.17	low	getma.org/?cm=msa&ty=f&p=PH4H_HUMAN&rb=119&re=450&var=K274M	getma.org/pdb.php?prot=PH4H_HUMAN&from=119&to=450&var=K274M	getma.org/?cm=var&var=hg19,12,103246614,T,A&fts=all	K274M	--	--	1																																			1	1		benign(0.086)	p.K274M	NM_000277	NP_000268		deleterious(0.05)	1	PH4H_HUMAN	PAH	HGNC	P00439	PH4H_HUMAN			F8W1D4_HUMAN,F8W0A0_HUMAN		8	1293	-			UPI00001318A0	274		K -> E.			SNV	PAH,missense_variant,p.Lys274Met,ENST00000553106,NM_000277.1;PAH,missense_variant,p.Lys269Met,ENST00000307000,;PAH,downstream_gene_variant,,ENST00000551988,;PAH,non_coding_transcript_exon_variant,,ENST00000549247,;PAH,downstream_gene_variant,,ENST00000549111,;PAH,upstream_gene_variant,,ENST00000551114,;	uc001tjq.1	c.821A>T	1294/4122	2	2			c.821A>T						12	SNP	c.(820-822)AAG>ATG	26	26			ovary(4)	4	Broad	phenylalanine hydroxylase		Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	103246614		0.562	ENSG00000171759	11203	g.chr12:103246614T>A	catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity							113.260955	KEEP	20	26	-1	54	32	20	26	-1	115.72941	54	32	0.344828	1	0	0	0	0	1	0	0	0	--	--		0	A				124	GBM-12-1597-TP	p.K274M	T	ATACATGGGCTTGGATCCATG	NM_000277	NP_000268	103246614	P00439	PH4H_HUMAN	0			8	1293	-	A	A			Missense_Mutation	274		K -> E.				
PAH	0	broad.mit.edu	GRCh37	12	103246597	103246597	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs62508698		TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000553106.1:c.838G>A	p.Glu280Lys	p.E280K	ENST00000553106	NM_000277.1	280	Gaa/Aaa	0			1			T	E/K	uc001tjq.1	protein_coding	YES	CCDS9092.1			838/1359						not_provided,pathogenic			ovary(4)	4	c.(838-840)GAA>AAA			Superfamily_domains:SSF56534,PIRSF_domain:PIRSF000336,Pfam_domain:PF00351,TIGRFAM_domain:TIGR01268,Gene3D:1.10.800.10,hmmpanther:PTHR11473,PROSITE_profiles:PS51410	phenylalanine hydroxylase	Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)			ENSP00000448059		13-Jul	4.12E-05	9.61E-05	8.64E-05			4.50E-05			rs62508698,PAH_c.838G>A,COSM2063927	13-Jul	.		ENST00000553106	Transcript	1		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	ENSG00000171759	g.chr12:103246597C>T	8582			MODERATE		4.43	high	getma.org/?cm=msa&ty=f&p=PH4H_HUMAN&rb=119&re=450&var=E280K	getma.org/pdb.php?prot=PH4H_HUMAN&from=119&to=450&var=E280K	getma.org/?cm=var&var=hg19,12,103246597,C,T&fts=all	E280K	--	--	1																																			1,0,1	1		probably_damaging(1)	p.E280K	NM_000277	NP_000268		deleterious(0.03)	0,0,1	PH4H_HUMAN	PAH	HGNC	P00439	PH4H_HUMAN			F8W1D4_HUMAN,F8W0A0_HUMAN		8	1310	-			UPI00001318A0	280		E -> K (in PKU; haplotypes 1,2,4,16,38; partial residual activity).			SNV	PAH,missense_variant,p.Glu280Lys,ENST00000553106,NM_000277.1;PAH,missense_variant,p.Glu275Lys,ENST00000307000,;PAH,downstream_gene_variant,,ENST00000551988,;PAH,non_coding_transcript_exon_variant,,ENST00000549247,;PAH,downstream_gene_variant,,ENST00000549111,;PAH,upstream_gene_variant,,ENST00000551114,;	uc001tjq.1	c.838G>A	1311/4122	2	2			c.838G>A						12	SNP	c.(838-840)GAA>AAA	42	42			ovary(4)	4	Broad	phenylalanine hydroxylase		Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	103246597		0.547	ENSG00000171759	11203	g.chr12:103246597C>T	catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity							70.2261	KEEP	13	27	-1	62	65	13	27	-1	79.494776	62	65	0.227941	1	0	0	0	0	1	0	0	0	--	--		0	T				160	GBM-19-1790-TP	p.E280K	C	ACTCACGGTTCGGGGGTATAC	NM_000277	NP_000268	103246597	P00439	PH4H_HUMAN	0			8	1310	-	T	T			Missense_Mutation	280		E -> K (in PKU; haplotypes 1,2,4,16,38; partial residual activity).				
PAK1	5058		GRCh37	11	77069990	77069992	+	inframe_deletion	In_Frame_Del	DEL	CAT	CAT	-			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000356341.3:c.548_550del	p.Asp183del	p.D183del	ENST00000356341	NM_002576.4	183	gATGct/gct	0																																																																																																																																																																																																																																												
PAK3	0	broad.mit.edu	GRCh37	X	110406206	110406208	+	inframe_deletion	In_Frame_Del	DEL	GAA	GAA	-			TCGA-27-1838-01	TCGA-27-1838-01	GAA	GAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262836.4:c.591_593delAGA	p.Glu197del	p.E197del	ENST00000262836	NM_001128173.1	193	GAA/-	0			1			-	E/-	uc004epa.2	protein_coding		CCDS48153.1			577-579/1680									lung(6)|ovary(3)|large_intestine(1)	10	c.(577-579)GAAdel			Low_complexity_(Seg):seg,hmmpanther:PTHR24361:SF250,hmmpanther:PTHR24361	p21-activated kinase 3 isoform d				ENSP00000262836		15-Jun									rs775596768	15-Jun	.		ENST00000262836	Transcript	1		multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	ENSG00000077264	g.chrX:110406206_110406208delGAA	8592	14		MODERATE								--	--	1				TSP Lung(19;0.15)																														PAK3_uc010npt.1_In_Frame_Del_p.E182del|PAK3_uc010npu.1_In_Frame_Del_p.E182del|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_In_Frame_Del_p.E182del|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_In_Frame_Del_p.E218del|PAK3_uc010npw.1_In_Frame_Del_p.E203del					p.E197del	NM_001128173	NP_001121645				PAK3_HUMAN	PAK3	HGNC	O75914	PAK3_HUMAN					6	604_606	+			UPI00001B60C1	197			Linker.		deletion	PAK3,inframe_deletion,p.Glu182del,ENST00000372007,NM_002578.3;PAK3,inframe_deletion,p.Glu203del,ENST00000519681,;PAK3,inframe_deletion,p.Glu197del,ENST00000372010,;PAK3,inframe_deletion,p.Glu182del,ENST00000446737,NM_001128166.1;PAK3,inframe_deletion,p.Glu182del,ENST00000425146,NM_001128167.1;PAK3,inframe_deletion,p.Glu218del,ENST00000360648,NM_001128168.1;PAK3,inframe_deletion,p.Glu203del,ENST00000417227,NM_001128172.1;PAK3,inframe_deletion,p.Glu197del,ENST00000262836,NM_001128173.1;PAK3,inframe_deletion,p.Glu218del,ENST00000518291,;	uc004epa.2	c.577_579delGAA	604-606/2178	5	5			c.577_579delGAA						23	DEL	c.(577-579)GAAdel	47	47			lung(6)|ovary(3)|large_intestine(1)	10	Broad	p21-activated kinase 3 isoform d			110406208		0.325	ENSG00000077264	11211	g.chrX:110406206_110406208delGAA	multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			137			137														0.02	1	1	0	1	0	0	0	0	0	--	--	TSP Lung(19;0.15)	0	-			PAK3_uc010npt.1_In_Frame_Del_p.E182del|PAK3_uc010npu.1_In_Frame_Del_p.E182del|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_In_Frame_Del_p.E182del|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_In_Frame_Del_p.E218del|PAK3_uc010npw.1_In_Frame_Del_p.E203del	197	GBM-27-1838-TP	p.E197del	GAA	agatgaagaggaagaagaagaag	NM_001128173	NP_001121645	110406206	O75914	PAK3_HUMAN	0			6	604_606	+	-	-			In_Frame_Del	197			Linker.			
PAK4	10298	broad.mit.edu	GRCh37	19	39663979	39663979	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6389-01	TCGA-06-6389-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000593690.1:c.626C>T	p.Pro209Leu	p.P209L	ENST00000593690	NM_001014831.2	209	cCg/cTg	0			1			T	P/L	uc002okj.1	protein_coding		CCDS12528.1			626/1776									lung(3)|ovary(1)	4	c.(625-627)CCG>CTG			hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF181	p21-activated kinase 4 isoform 1				ENSP00000351049		9-Mar										9-Mar	.		ENST00000358301	Transcript			cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity	ENSG00000130669	g.chr19:39663979C>T	16059			MODERATE		1.895	low	getma.org/?cm=msa&ty=f&p=PAK4_HUMAN&rb=67&re=266&var=P209L	NA	getma.org/?cm=var&var=hg19,19,39663979,C,T&fts=all	P209L	--	--	1																																		PAK4_uc002okl.1_Missense_Mutation_p.P209L|PAK4_uc002okn.1_Missense_Mutation_p.P209L|PAK4_uc002okm.1_Intron|PAK4_uc002oko.1_Intron|PAK4_uc002okp.1_Intron				probably_damaging(0.958)	p.P209L	NM_001014831	NP_001014831		deleterious(0.01)		PAK4_HUMAN	PAK4	HGNC	O96013	PAK4_HUMAN	Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)		M0R2X4_HUMAN,B4DUG0_HUMAN		5	1087	+	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		UPI0000001281	209			Linker.		SNV	PAK4,missense_variant,p.Pro209Leu,ENST00000593690,NM_001014831.2;PAK4,missense_variant,p.Pro209Leu,ENST00000360442,;PAK4,missense_variant,p.Pro209Leu,ENST00000358301,NM_001014832.1;PAK4,missense_variant,p.Pro209Leu,ENST00000435673,;PAK4,intron_variant,,ENST00000599386,NM_001014835.1;PAK4,intron_variant,,ENST00000321944,NM_005884.3;PAK4,intron_variant,,ENST00000599470,NM_001014834.2;PAK4,intron_variant,,ENST00000602004,;PAK4,intron_variant,,ENST00000599657,;PAK4,downstream_gene_variant,,ENST00000593480,;PAK4,upstream_gene_variant,,ENST00000597715,;PAK4,upstream_gene_variant,,ENST00000600350,;	uc002okj.1	c.626C>T	766/2739	1	1			c.626C>T						19	SNP	c.(625-627)CCG>CTG	7	7			lung(3)|ovary(1)	4	Broad	p21-activated kinase 4 isoform 1			39663979		0.701	ENSG00000130669	11212	g.chr19:39663979C>T	cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			223			223	3.908412	KEEP	2	1	-1	11	16	2	1	-1	7.448939	11	16	0.12	1	0	0	0	0	1	0	0	0	--	--		0	T			PAK4_uc002okl.1_Missense_Mutation_p.P209L|PAK4_uc002okn.1_Missense_Mutation_p.P209L|PAK4_uc002okm.1_Intron|PAK4_uc002oko.1_Intron|PAK4_uc002okp.1_Intron	105	GBM-06-6389-TP	p.P209L	C	AACACCTACCCGAGGGCTGAC	NM_001014831	NP_001014831	39663979	O96013	PAK4_HUMAN	0	Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)		5	1087	+	T	T	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Missense_Mutation	209			Linker.			
PAK4	0	broad.mit.edu	GRCh37	19	39660357	39660357	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs112229040		TCGA-76-6285-01	TCGA-76-6285-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358301.3:c.164A>C	p.Asp55Ala	p.D55A	ENST00000358301	NM_001014832.1	55	gAc/gCc	0			1			C	D/A	uc002okj.1	protein_coding		CCDS12528.1			164/1776									lung(3)|ovary(1)	4	c.(163-165)GAC>GCC			Gene3D:3.90.810.10,Pfam_domain:PF00786,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF181	p21-activated kinase 4 isoform 1				ENSP00000351049		9-Feb	0.000314	0.000113		0.000615	0.0016	0.000264		6.24E-05	rs112229040,COSM302853	9-Feb	common_variant		ENST00000358301	Transcript			cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity	ENSG00000130669	g.chr19:39660357A>C	16059			MODERATE		2.835	medium	getma.org/?cm=msa&ty=f&p=PAK4_HUMAN&rb=10&re=66&var=D55A	getma.org/pdb.php?prot=PAK4_HUMAN&from=10&to=66&var=D55A	getma.org/?cm=var&var=hg19,19,39660357,A,C&fts=all	D55A	--	--	1																																		PAK4_uc002okl.1_Missense_Mutation_p.D55A|PAK4_uc002okn.1_Missense_Mutation_p.D55A|PAK4_uc002okm.1_Missense_Mutation_p.D55A|PAK4_uc002oko.1_Missense_Mutation_p.D55A|PAK4_uc002okp.1_Missense_Mutation_p.D55A	0,1			probably_damaging(0.999)	p.D55A	NM_001014831	NP_001014831		deleterious(0.01)	0,1	PAK4_HUMAN	PAK4	HGNC	O96013	PAK4_HUMAN	Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)		M0R2X4_HUMAN,B4DUG0_HUMAN		4	625	+	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		UPI0000001281	55			Linker.		SNV	PAK4,missense_variant,p.Asp55Ala,ENST00000599386,NM_001014835.1;PAK4,missense_variant,p.Asp55Ala,ENST00000593690,NM_001014831.2;PAK4,missense_variant,p.Asp55Ala,ENST00000360442,;PAK4,missense_variant,p.Asp55Ala,ENST00000358301,NM_001014832.1;PAK4,missense_variant,p.Asp55Ala,ENST00000435673,;PAK4,missense_variant,p.Asp55Ala,ENST00000321944,NM_005884.3;PAK4,missense_variant,p.Asp55Ala,ENST00000599470,NM_001014834.2;PAK4,missense_variant,p.Asp55Ala,ENST00000593480,;PAK4,missense_variant,p.Asp93Ala,ENST00000602004,;PAK4,missense_variant,p.Asp55Ala,ENST00000599657,;	uc002okj.1	c.164A>C	304/2739	3	3			c.164A>C						19	SNP	c.(163-165)GAC>GCC	1	1			lung(3)|ovary(1)	4	Broad	p21-activated kinase 4 isoform 1			39660357		0.716	ENSG00000130669	11212	g.chr19:39660357A>C	cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			223			223	3.62492	KEEP	10	4	-1	27	21	10	4	-1	6.90777	27	21	0.194444	1	0	0	0	0	1	0	0	0	--	--		0	C			PAK4_uc002okl.1_Missense_Mutation_p.D55A|PAK4_uc002okn.1_Missense_Mutation_p.D55A|PAK4_uc002okm.1_Missense_Mutation_p.D55A|PAK4_uc002oko.1_Missense_Mutation_p.D55A|PAK4_uc002okp.1_Missense_Mutation_p.D55A	280	GBM-76-6285-TP	p.D55A	A	CCCCTCGTCGACCCCGCCTGC	NM_001014831	NP_001014831	39660357	O96013	PAK4_HUMAN	0	Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)		4	625	+	C	C	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Missense_Mutation	55			Linker.			
PAK4	10298		GRCh37	19	39665625	39665625	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000593690.1:c.1153T>C	p.Tyr385His	p.Y385H	ENST00000593690	NM_001014831.2	385	Tac/Cac	0																																																																																																																																																																																																																																												
PAK7			GRCh37	20	9543605	9543605	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000353224.5:c.1549G>A	p.Asp517Asn	p.D517N	ENST00000353224	NM_177990.2	517	Gat/Aat	0																																																																																																																																																																																																																																												
PALLD	0	broad.mit.edu	GRCh37	4	169824985	169824985	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000505667.1:c.2550C>A	p.Thr850=	p.T850=	ENST00000505667		850	acC/acA	0			1			A	T	uc011cjx.1	protein_coding	YES	CCDS54818.1			2550/3372									ovary(1)	1	c.(2548-2550)ACC>ACA			Superfamily_domains:SSF48726,SMART_domains:SM00408,SMART_domains:SM00409,Pfam_domain:PF07679,Gene3D:2.60.40.10,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF152,PROSITE_profiles:PS50835	palladin isoform 2				ENSP00000425556		15/22									COSM3409161,COSM3409162	15/22	.	Pancreatic_Cancer_Familial_Clustering_of	ENST00000505667	Transcript	1		cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	ENSG00000129116	g.chr4:169824985C>A	17068			LOW								--	--	1																																		CBR4_uc011cjy.1_Intron|PALLD_uc003iru.2_Silent_p.T833T|PALLD_uc003irv.2_Silent_p.T451T|PALLD_uc003irw.2_Silent_p.T335T|PALLD_uc003irx.2_Silent_p.T59T	1,1	1			p.T850T	NM_016081	NP_057165			1,1	PALLD_HUMAN	PALLD	HGNC	Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	Q4W5A6_HUMAN,D6RBH5_HUMAN,D6RBB1_HUMAN,D6R9Z5_HUMAN,D6R948_HUMAN		15	2761	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	UPI000189A85C	1057			Ig-like C2-type 3.		SNV	PALLD,synonymous_variant,p.=,ENST00000335742,;PALLD,synonymous_variant,p.=,ENST00000261509,NM_001166108.1,NM_016081.3;PALLD,synonymous_variant,p.=,ENST00000507735,NM_001166110.1;PALLD,synonymous_variant,p.=,ENST00000505667,;PALLD,synonymous_variant,p.=,ENST00000512127,NM_001166109.1;PALLD,synonymous_variant,p.=,ENST00000393726,;CBR4,intron_variant,,ENST00000509108,;PALLD,non_coding_transcript_exon_variant,,ENST00000507699,;PALLD,non_coding_transcript_exon_variant,,ENST00000511682,;PALLD,non_coding_transcript_exon_variant,,ENST00000507325,;PALLD,non_coding_transcript_exon_variant,,ENST00000513187,;CBR4,intron_variant,,ENST00000510042,;	uc011cjx.1	c.2550C>A	2723/3637	2	2			c.2550C>A						4	SNP	c.(2548-2550)ACC>ACA	20	20			ovary(1)	1	Broad	palladin isoform 2			169824985	Pancreatic_Cancer_Familial_Clustering_of	0.438	ENSG00000129116	11216	g.chr4:169824985C>A	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	Esophageal Squamous(109;1482 1532 18347 40239 51172)			Esophageal Squamous(109;1482 1532 18347 40239 51172)			-13.25134	KEEP	3	0	-1	44	44	3	0	-1	6.700685	44	44	0.035294	1	0	0	0	0	0	0	1	0	--	--		0	A			CBR4_uc011cjy.1_Intron|PALLD_uc003iru.2_Silent_p.T833T|PALLD_uc003irv.2_Silent_p.T451T|PALLD_uc003irw.2_Silent_p.T335T|PALLD_uc003irx.2_Silent_p.T59T	160	GBM-19-1790-TP	p.T850T	C	TCGATGGGACCTGCTCCCTCC	NM_016081	NP_057165	169824985	Q8WX93	PALLD_HUMAN	0		GBM - Glioblastoma multiforme(119;0.204)	15	2761	+	A	A		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	Silent	1057			Ig-like C2-type 3.			
PALLD	23022		GRCh37	4	169433085	169433085	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000505667.1:c.430G>A	p.Gly144Ser	p.G144S	ENST00000505667		144	Ggt/Agt	0																																																																																																																																																																																																																																												
PALLD	23022		GRCh37	4	169845564	169845564	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000505667.1:c.3217C>T	p.Arg1073Ter	p.R1073*	ENST00000505667		1073	Cga/Tga	0																																																																																																																																																																																																																																												
PALM	0	broad.mit.edu	GRCh37	19	746653	746653	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1835-01	TCGA-27-1835-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338448.5:c.1003G>A	p.Ala335Thr	p.A335T	ENST00000338448	NM_002579.2	335	Gct/Act	0			1			A	A/T	uc002lpm.1	protein_coding	YES	CCDS32857.1			1003/1164										0	c.(1003-1005)GCT>ACT			Low_complexity_(Seg):seg,hmmpanther:PTHR10498:SF9,hmmpanther:PTHR10498,Pfam_domain:PF03285	paralemmin isoform 1				ENSP00000341911		9-Sep									COSM2157214	9-Sep	.		ENST00000338448	Transcript			cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane		ENSG00000099864	g.chr19:746653G>A	8594			MODERATE		2.2	medium	getma.org/?cm=msa&ty=f&p=PALM_HUMAN&rb=70&re=387&var=A335T	NA	getma.org/?cm=var&var=hg19,19,746653,G,A&fts=all	A335T	--	--	1																																		PALM_uc002lpn.1_Missense_Mutation_p.A291T|PALM_uc010xfu.1_Missense_Mutation_p.A200T	1	1		benign(0.142)	p.A335T	NM_002579	NP_002570		tolerated(0.5)	1	PALM_HUMAN	PALM	HGNC	O75781	PALM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)	B7Z6Y8_HUMAN		9	1197	+		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	UPI0000001616	335					SNV	PALM,missense_variant,p.Ala291Thr,ENST00000264560,NM_001040134.1;PALM,missense_variant,p.Ala335Thr,ENST00000338448,NM_002579.2;MISP,upstream_gene_variant,,ENST00000215582,NM_173481.2;PALM,non_coding_transcript_exon_variant,,ENST00000593172,;PALM,non_coding_transcript_exon_variant,,ENST00000592155,;PALM,non_coding_transcript_exon_variant,,ENST00000590161,;PALM,downstream_gene_variant,,ENST00000587513,;	uc002lpm.1	c.1003G>A	1049/2725	2	2			c.1003G>A						19	SNP	c.(1003-1005)GCT>ACT	38	38				0	Broad	paralemmin isoform 1			746653		0.647	ENSG00000099864	11217	g.chr19:746653G>A	cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane								30.977853	KEEP	8	4	-1	2	6	8	4	-1	31.162548	2	6	0.611111	1	0	0	0	0	1	0	0	0	--	--		0	A			PALM_uc002lpn.1_Missense_Mutation_p.A291T|PALM_uc010xfu.1_Missense_Mutation_p.A200T	194	GBM-27-1835-TP	p.A335T	G	CGAAGACGCGGCTGAGCCCAA	NM_002579	NP_002570	746653	O75781	PALM_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)	9	1197	+	A	A		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	Missense_Mutation	335						
PALM	0	broad.mit.edu	GRCh37	19	746493	746493	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-2572-01	TCGA-41-2572-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338448.5:c.843C>T	p.Gly281=	p.G281=	ENST00000338448	NM_002579.2	281	ggC/ggT	0		T:0	1	T:0		T	G	uc002lpm.1	protein_coding	YES	CCDS32857.1			843/1164										0	c.(841-843)GGC>GGT			hmmpanther:PTHR10498:SF9,hmmpanther:PTHR10498,Pfam_domain:PF03285	paralemmin isoform 1		T:0.001		ENSP00000341911	T:0	9-Sep	1.66E-05			0.000248					rs199542927,COSM3404772	9-Sep	.		ENST00000338448	Transcript		T:0.0002	cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane		ENSG00000099864	g.chr19:746493C>T	8594			LOW								--	--	1																																		PALM_uc002lpn.1_Silent_p.G237G|PALM_uc010xfu.1_Silent_p.G146G	0,1	1			p.G281G	NM_002579	NP_002570	T:0		0,1	PALM_HUMAN	PALM	HGNC	O75781	PALM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)	B7Z6Y8_HUMAN		9	1037	+		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	UPI0000001616	281					SNV	PALM,synonymous_variant,p.=,ENST00000264560,NM_001040134.1;PALM,synonymous_variant,p.=,ENST00000338448,NM_002579.2;MISP,upstream_gene_variant,,ENST00000215582,NM_173481.2;PALM,non_coding_transcript_exon_variant,,ENST00000593172,;PALM,non_coding_transcript_exon_variant,,ENST00000592155,;PALM,non_coding_transcript_exon_variant,,ENST00000590161,;PALM,non_coding_transcript_exon_variant,,ENST00000587513,;	uc002lpm.1	c.843C>T	889/2725	2	2			c.843C>T						19	SNP	c.(841-843)GGC>GGT	38	38				0	Broad	paralemmin isoform 1			746493		0.726	ENSG00000099864	11217	g.chr19:746493C>T	cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane								6.985821	KEEP	2	2	-1	9	12	2	2	-1	8.663686	9	12	0.2	1	0	0	0	0	0	0	1	0	--	--		0	T			PALM_uc002lpn.1_Silent_p.G237G|PALM_uc010xfu.1_Silent_p.G146G	251	GBM-41-2572-TP	p.G281G	C	CACAGCCAGGCGAGGCCACGT	NM_002579	NP_002570	746493	O75781	PALM_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)	9	1037	+	T	T		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	Silent	281						
PALM2AKAP2	0	broad.mit.edu	GRCh37	9	112687347	112687347	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-87-5896-01	TCGA-87-5896-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314527.4:c.379T>C	p.Ser127Pro	p.S127P	ENST00000314527	NM_053016.5	127	Tcc/Ccc	0			1			C	S/P	uc004bei.2	protein_coding		CCDS35099.1			385/1140								p.S127Y(1)	ovary(3)|central_nervous_system(2)|skin(1)	6	c.(379-381)TCC>CCC			hmmpanther:PTHR10498,Pfam_domain:PF03285	A kinase (PRKA) anchor protein 2 isoform 2				ENSP00000363656		7-Jun									COSM3413239,COSM3413238	7-Jun	.		ENST00000374531	Transcript					enzyme binding	ENSG00000243444	g.chr9:112687347T>C	15845			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=PALM2_HUMAN&rb=68&re=379&var=S129P	NA	getma.org/?cm=var&var=hg19,9,112687347,T,C&fts=all	S129P	--	--	1																																		PALM2_uc004bef.2_Missense_Mutation_p.S129P|PALM2_uc004beg.2_Missense_Mutation_p.S129P|PALM2_uc004beh.3_Missense_Mutation_p.S127P|PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.S127P|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.S127P|PALM2-AKAP2_uc004bel.1_5'UTR	1,1			possibly_damaging(0.773)	p.S127P	NM_001136562	NP_001130034		tolerated(0.22)	1,1	PALM2_HUMAN	PALM2	HGNC	Q9Y2D5	AKAP2_HUMAN			C9JA33_HUMAN		5	571	+			UPI0000458813	Error:Variant_position_missing_in_Q9Y2D5_after_alignment					SNV	PALM2,missense_variant,p.Ser129Pro,ENST00000448454,;PALM2-AKAP2,missense_variant,p.Ser127Pro,ENST00000374530,NM_007203.4,NM_147150.2;PALM2-AKAP2,missense_variant,p.Ser127Pro,ENST00000302798,;PALM2,missense_variant,p.Ser129Pro,ENST00000374531,NM_001037293.2;AKAP2,missense_variant,p.Ser127Pro,ENST00000555236,;AKAP2,missense_variant,p.Ser127Pro,ENST00000510514,;PALM2,missense_variant,p.Ser127Pro,ENST00000483909,;PALM2-AKAP2,missense_variant,p.Ser127Pro,ENST00000413420,;PALM2,missense_variant,p.Ser127Pro,ENST00000314527,NM_053016.5;PALM2,missense_variant,p.Ser113Pro,ENST00000497711,;PALM2,downstream_gene_variant,,ENST00000465091,;	uc004bei.2	c.379T>C	459/4492	3	3			c.379T>C						9	SNP	c.(379-381)TCC>CCC	4	4		p.S127Y(1)	ovary(3)|central_nervous_system(2)|skin(1)	6	Broad	A kinase (PRKA) anchor protein 2 isoform 2			112687347		0.463	ENSG00000243444	11219	g.chr9:112687347T>C			enzyme binding							57.063468	KEEP	12	9	-1	9	23	12	9	-1	57.751147	9	23	0.369565	1	0	0	0	0	1	0	0	0	--	--		0	C			PALM2_uc004bef.2_Missense_Mutation_p.S129P|PALM2_uc004beg.2_Missense_Mutation_p.S129P|PALM2_uc004beh.3_Missense_Mutation_p.S127P|PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.S127P|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.S127P|PALM2-AKAP2_uc004bel.1_5'UTR	291	GBM-87-5896-TP	p.S127P	T	ACAGGGTTTCTCCAGTACGGA	NM_001136562	NP_001130034	112687347	Q9Y2D5	AKAP2_HUMAN	0			5	571	+	C	C			Missense_Mutation	Error:Variant_position_missing_in_Q9Y2D5_after_alignment						
PALM2-AKAP2	445815	broad.mit.edu	GRCh37	9	112900697	112900697	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs139808664		TCGA-02-2486-01	TCGA-02-2486-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374530.3:c.2873G>A	p.Arg958Gln	p.R958Q	ENST00000374530	NM_007203.4	958	cGa/cAa	0	A:0		1			A	R/Q	uc004bei.2	protein_coding	YES	CCDS35100.1			2873/3312									ovary(3)|central_nervous_system(2)|skin(1)	6	c.(3568-3570)CGA>CAA			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10498,hmmpanther:PTHR10498:SF10,Pfam_domain:PF15304	A kinase (PRKA) anchor protein 2 isoform 2			A:0.0001	ENSP00000363654		11-Aug	8.24E-06					1.50E-05			rs139808664,COSM3413243,COSM3413242	11-Aug	.		ENST00000374530	Transcript					enzyme binding	ENSG00000157654	g.chr9:112900697G>A	33529			MODERATE		2.005	medium	getma.org/?cm=msa&ty=f&p=AKAP2_HUMAN&rb=583&re=782&var=R727Q	NA	getma.org/?cm=var&var=hg19,9,112900697,G,A&fts=all	R727Q	--	--	1																																		PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.R958Q|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.R958Q|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.R768Q|AKAP2_uc011lwi.1_Missense_Mutation_p.R816Q|AKAP2_uc004bem.2_Missense_Mutation_p.R816Q|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.R776Q|AKAP2_uc011lwj.1_Missense_Mutation_p.R727Q|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.R727Q	0,1,1	1		probably_damaging(0.996)	p.R1190Q	NM_001136562	NP_001130034		tolerated(0.08)	0,1,1		PALM2-AKAP2	HGNC	Q9Y2D5	AKAP2_HUMAN					9	3761	+			UPI0000125755	727			Potential.		SNV	PALM2-AKAP2,missense_variant,p.Arg958Gln,ENST00000374530,NM_007203.4,NM_147150.2;AKAP2,missense_variant,p.Arg816Gln,ENST00000374525,NM_001004065.4;PALM2-AKAP2,missense_variant,p.Arg958Gln,ENST00000302798,;AKAP2,missense_variant,p.Arg816Gln,ENST00000434623,NM_001198656.1;AKAP2,missense_variant,p.Arg958Gln,ENST00000555236,;AKAP2,missense_variant,p.Arg958Gln,ENST00000510514,;AKAP2,missense_variant,p.Arg727Gln,ENST00000259318,NM_001136562.2;AKAP2,missense_variant,p.Arg776Gln,ENST00000480388,;PALM2-AKAP2,downstream_gene_variant,,ENST00000413420,;AKAP2,non_coding_transcript_exon_variant,,ENST00000482335,;AKAP2,downstream_gene_variant,,ENST00000471798,;AKAP2,intron_variant,,ENST00000495980,;	uc004bei.2	c.3569G>A	3053/7507	1	1			c.3569G>A						9	SNP	c.(3568-3570)CGA>CAA	50	50			ovary(3)|central_nervous_system(2)|skin(1)	6	Broad	A kinase (PRKA) anchor protein 2 isoform 2			112900697		0.552	ENSG00000157654	11219	g.chr9:112900697G>A			enzyme binding							94.812463	KEEP	18	19	-1	40	39	18	19	-1	97.706309	40	39	0.32381	1	0	0	0	0	1	0	0	0	--	--		0	A			PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.R958Q|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.R958Q|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.R768Q|AKAP2_uc011lwi.1_Missense_Mutation_p.R816Q|AKAP2_uc004bem.2_Missense_Mutation_p.R816Q|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.R776Q|AKAP2_uc011lwj.1_Missense_Mutation_p.R727Q|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.R727Q	8	GBM-02-2486-TP	p.R1190Q	G	GAAGAGATCCGAGCAGCTCAG	NM_001136562	NP_001130034	112900697	Q9Y2D5	AKAP2_HUMAN	0			9	3761	+	A	A			Missense_Mutation	727			Potential.			
PALM2-AKAP2	445815	broad.mit.edu	GRCh37	9	112900147	112900147	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-2564-01	TCGA-06-2564-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374530.3:c.2323T>A	p.Phe775Ile	p.F775I	ENST00000374530	NM_007203.4	775	Ttt/Att	0			1			A	F/I	uc004bei.2	protein_coding	YES	CCDS35100.1			2323/3312									ovary(3)|central_nervous_system(2)|skin(1)	6	c.(3019-3021)TTT>ATT			hmmpanther:PTHR10498,hmmpanther:PTHR10498:SF10	A kinase (PRKA) anchor protein 2 isoform 2				ENSP00000363654		11-Aug									COSM2152932,COSM2152931	11-Aug	.		ENST00000374530	Transcript					enzyme binding	ENSG00000157654	g.chr9:112900147T>A	33529			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=AKAP2_HUMAN&rb=401&re=564&var=F544I	NA	getma.org/?cm=var&var=hg19,9,112900147,T,A&fts=all	F544I	--	--	1																																		PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.F775I|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.F775I|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.F585I|AKAP2_uc011lwi.1_Missense_Mutation_p.F633I|AKAP2_uc004bem.2_Missense_Mutation_p.F633I|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.F593I|AKAP2_uc011lwj.1_Missense_Mutation_p.F544I|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.F544I	1,1	1		possibly_damaging(0.557)	p.F1007I	NM_001136562	NP_001130034		tolerated(0.11)	1,1		PALM2-AKAP2	HGNC	Q9Y2D5	AKAP2_HUMAN					9	3211	+			UPI0000125755	544					SNV	PALM2-AKAP2,missense_variant,p.Phe775Ile,ENST00000374530,NM_007203.4,NM_147150.2;AKAP2,missense_variant,p.Phe633Ile,ENST00000374525,NM_001004065.4;PALM2-AKAP2,missense_variant,p.Phe775Ile,ENST00000302798,;AKAP2,missense_variant,p.Phe633Ile,ENST00000434623,NM_001198656.1;AKAP2,missense_variant,p.Phe775Ile,ENST00000555236,;AKAP2,missense_variant,p.Phe775Ile,ENST00000510514,;AKAP2,missense_variant,p.Phe544Ile,ENST00000259318,NM_001136562.2;AKAP2,missense_variant,p.Phe593Ile,ENST00000480388,;PALM2-AKAP2,downstream_gene_variant,,ENST00000413420,;AKAP2,upstream_gene_variant,,ENST00000482335,;AKAP2,downstream_gene_variant,,ENST00000471798,;AKAP2,intron_variant,,ENST00000495980,;	uc004bei.2	c.3019T>A	2503/7507	1	1			c.3019T>A						9	SNP	c.(3019-3021)TTT>ATT	59	59			ovary(3)|central_nervous_system(2)|skin(1)	6	Broad	A kinase (PRKA) anchor protein 2 isoform 2			112900147		0.542	ENSG00000157654	11219	g.chr9:112900147T>A			enzyme binding							242.505879	KEEP	44	52	-1	68	73	44	52	-1	244.45943	68	73	0.396135	1	0	0	0	0	1	0	0	0	--	--		0	A			PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.F775I|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.F775I|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.F585I|AKAP2_uc011lwi.1_Missense_Mutation_p.F633I|AKAP2_uc004bem.2_Missense_Mutation_p.F633I|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.F593I|AKAP2_uc011lwj.1_Missense_Mutation_p.F544I|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.F544I	87	GBM-06-2564-TP	p.F1007I	T	CTCCAAGTCATTTAGTGATCA	NM_001136562	NP_001130034	112900147	Q9Y2D5	AKAP2_HUMAN	0			9	3211	+	A	A			Missense_Mutation	544						
PALM2-AKAP2	0	broad.mit.edu	GRCh37	9	112899196	112899196	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01	TCGA-19-2620-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259318.7:c.679C>T	p.Arg227Cys	p.R227C	ENST00000259318	NM_001136562.2	227	Cgc/Tgc	0			1			T	R/C	uc004bei.2	protein_coding	YES	CCDS35100.1			1372/3312									ovary(3)|central_nervous_system(2)|skin(1)	6	c.(2068-2070)CGC>TGC			Low_complexity_(Seg):seg,hmmpanther:PTHR10498,hmmpanther:PTHR10498:SF10	A kinase (PRKA) anchor protein 2 isoform 2				ENSP00000363654		11-Aug	8.24E-06					1.50E-05			rs765001694,COSM3413241,COSM3413240	11-Aug	.		ENST00000374530	Transcript					enzyme binding	ENSG00000157654	g.chr9:112899196C>T	33529			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=AKAP2_HUMAN&rb=201&re=400&var=R227C	NA	getma.org/?cm=var&var=hg19,9,112899196,C,T&fts=all	R227C	--	--	1																																		PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.R458C|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.R458C|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.R268C|AKAP2_uc011lwi.1_Missense_Mutation_p.R316C|AKAP2_uc004bem.2_Missense_Mutation_p.R316C|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.R276C|AKAP2_uc011lwj.1_Missense_Mutation_p.R227C|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.R227C	0,1,1	1		probably_damaging(0.979)	p.R690C	NM_001136562	NP_001130034		deleterious(0)	0,1,1		PALM2-AKAP2	HGNC	Q9Y2D5	AKAP2_HUMAN					9	2260	+			UPI0000125755	227			Potential.		SNV	PALM2-AKAP2,missense_variant,p.Arg458Cys,ENST00000374530,NM_007203.4,NM_147150.2;AKAP2,missense_variant,p.Arg316Cys,ENST00000374525,NM_001004065.4;PALM2-AKAP2,missense_variant,p.Arg458Cys,ENST00000302798,;AKAP2,missense_variant,p.Arg316Cys,ENST00000434623,NM_001198656.1;AKAP2,missense_variant,p.Arg458Cys,ENST00000555236,;AKAP2,missense_variant,p.Arg458Cys,ENST00000510514,;AKAP2,missense_variant,p.Arg227Cys,ENST00000259318,NM_001136562.2;AKAP2,missense_variant,p.Arg276Cys,ENST00000480388,;PALM2-AKAP2,downstream_gene_variant,,ENST00000413420,;AKAP2,upstream_gene_variant,,ENST00000482335,;AKAP2,downstream_gene_variant,,ENST00000471798,;AKAP2,intron_variant,,ENST00000495980,;	uc004bei.2	c.2068C>T	1552/7507	1	1			c.2068C>T						9	SNP	c.(2068-2070)CGC>TGC	3	3			ovary(3)|central_nervous_system(2)|skin(1)	6	Broad	A kinase (PRKA) anchor protein 2 isoform 2			112899196		0.512	ENSG00000157654	11219	g.chr9:112899196C>T			enzyme binding							87.455726	KEEP	15	16	-1	35	25	15	16	-1	89.0018	35	25	0.353659	1	0	0	0	0	1	0	0	0	--	--		0	T			PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.R458C|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.R458C|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.R268C|AKAP2_uc011lwi.1_Missense_Mutation_p.R316C|AKAP2_uc004bem.2_Missense_Mutation_p.R316C|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.R276C|AKAP2_uc011lwj.1_Missense_Mutation_p.R227C|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.R227C	162	GBM-19-2620-TP	p.R690C	C	AGAGCTCATCCGCAGCCAGGC	NM_001136562	NP_001130034	112899196	Q9Y2D5	AKAP2_HUMAN	0			9	2260	+	T	T			Missense_Mutation	227			Potential.			
PAM	0	broad.mit.edu	GRCh37	5	102360910	102360911	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	-			TCGA-27-1833-01	TCGA-27-1833-01	AG	AG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000438793.3:c.2562_2563delGA	p.Lys855ThrfsTer44	p.K855Tfs*44	ENST00000438793	NM_001177306.1	854	cAG/c	0			1			-	Q/X	uc003knw.2	protein_coding		CCDS54885.1			2561-2562/2922										0	c.(2560-2562)CAGfs			hmmpanther:PTHR10680,hmmpanther:PTHR10680:SF13	peptidylglycine alpha-amidating monooxygenase	Vitamin C(DB00126)			ENSP00000396493		23/25										23/25	.		ENST00000438793	Transcript			peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	ENSG00000145730	g.chr5:102360910_102360911delAG	8596	1		HIGH								--	--	1																																		PAM_uc003kns.2_Frame_Shift_Del_p.Q747fs|PAM_uc003knt.2_Frame_Shift_Del_p.Q854fs|PAM_uc003knu.2_Intron|PAM_uc003knv.2_Intron|PAM_uc011cuz.1_Frame_Shift_Del_p.Q756fs|PAM_uc003knz.2_Frame_Shift_Del_p.Q94fs					p.Q854fs	NM_000919	NP_000910				AMD_HUMAN	PAM	HGNC	P19021	AMD_HUMAN		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	D6RG20_HUMAN,D6RF09_HUMAN,D6RDU2_HUMAN,D6RCD5_HUMAN,D6RAQ2_HUMAN,D6R961_HUMAN		23	2934_2935	+		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)	UPI0000001BB7	854			Intragranular (Potential).		deletion	PAM,frameshift_variant,p.Lys855ThrfsTer44,ENST00000438793,NM_001177306.1,NM_000919.3,NM_138766.2;PAM,frameshift_variant,p.Lys748ThrfsTer44,ENST00000348126,NM_138821.2;PAM,frameshift_variant,p.Lys757ThrfsTer44,ENST00000274392,;PAM,frameshift_variant,p.Lys235ThrfsTer52,ENST00000379787,;PAM,frameshift_variant,p.Lys855ThrfsTer45,ENST00000304400,;PAM,frameshift_variant,p.Lys150ThrfsTer52,ENST00000504691,;PAM,intron_variant,,ENST00000346918,NM_138822.2;PAM,intron_variant,,ENST00000455264,;PAM,intron_variant,,ENST00000379799,;PAM,non_coding_transcript_exon_variant,,ENST00000504456,;PAM,non_coding_transcript_exon_variant,,ENST00000515456,;PAM,intron_variant,,ENST00000510006,;PAM,3_prime_UTR_variant,,ENST00000345721,;	uc003knw.2	c.2561_2562delAG	3031-3032/5432	5	5			c.2561_2562delAG						5	DEL	c.(2560-2562)CAGfs	26	26				0	Broad	peptidylglycine alpha-amidating monooxygenase		Vitamin C(DB00126)	102360911		0.46	ENSG00000145730	11221	g.chr5:102360910_102360911delAG	peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding																				0.39	1	1	0	1	0	0	0	0	0	--	--		0	-			PAM_uc003kns.2_Frame_Shift_Del_p.Q747fs|PAM_uc003knt.2_Frame_Shift_Del_p.Q854fs|PAM_uc003knu.2_Intron|PAM_uc003knv.2_Intron|PAM_uc011cuz.1_Frame_Shift_Del_p.Q756fs|PAM_uc003knz.2_Frame_Shift_Del_p.Q94fs	192	GBM-27-1833-TP	p.Q854fs	AG	CAAGAGAAACAGAAACTGATCA	NM_000919	NP_000910	102360910	P19021	AMD_HUMAN	0		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	23	2934_2935	+	-	-		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)	Frame_Shift_Del	854			Intragranular (Potential).			
PAMR1	25891	broad.mit.edu	GRCh37	11	35454286	35454286	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01	TCGA-06-0743-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278360.3:c.1832C>T	p.Ser611Phe	p.S611F	ENST00000278360	NM_015430.2	611	tCc/tTc	0		A:0	1	A:0		A	S/F	uc001mwg.2	protein_coding	YES	CCDS7898.1			1832/2214									ovary(2)	2	c.(1780-1782)TCC>TTC			Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24254,hmmpanther:PTHR24254:SF7,SMART_domains:SM00020,Superfamily_domains:SSF50494	regeneration associated muscle protease isoform		A:0		ENSP00000278360	A:0.001	12-Dec	8.24E-06					1.50E-05			rs554767403,COSM3397653	12-Dec	.		ENST00000278360	Transcript		A:0.0002	proteolysis	extracellular region	serine-type endopeptidase activity	ENSG00000149090	g.chr11:35454286G>A	24554			MODERATE		1.465	low	getma.org/?cm=msa&ty=f&p=PAMR1_HUMAN&rb=452&re=715&var=S594F	getma.org/pdb.php?prot=PAMR1_HUMAN&from=452&to=715&var=S594F	getma.org/?cm=var&var=hg19,11,35454286,G,A&fts=all	S594F	--	--	1																																		PAMR1_uc001mwf.2_Missense_Mutation_p.S611F|PAMR1_uc010rew.1_Missense_Mutation_p.S483F|PAMR1_uc010rex.1_Missense_Mutation_p.S554F	0,1	1		benign(0.185)	p.S594F	NM_001001991	NP_001001991	A:0	tolerated(0.27)	0,1	PAMR1_HUMAN	PAMR1	HGNC	Q6UXH9	PAMR1_HUMAN			E9PQ70_HUMAN		11	1824	-			UPI000013DB70	594			Peptidase S1.		SNV	PAMR1,missense_variant,p.Ser594Phe,ENST00000378880,NM_001001991.1;PAMR1,missense_variant,p.Ser554Phe,ENST00000532848,NM_001282675.1;PAMR1,missense_variant,p.Ser611Phe,ENST00000278360,NM_015430.2;PAMR1,missense_variant,p.Ser571Phe,ENST00000527605,;PAMR1,missense_variant,p.Ser483Phe,ENST00000378878,NM_001282676.1;PAMR1,downstream_gene_variant,,ENST00000531219,;	uc001mwg.2	c.1781C>T	1870/2786	2	2			c.1781C>T						11	SNP	c.(1780-1782)TCC>TTC	28	28			ovary(2)	2	Broad	regeneration associated muscle protease isoform			35454286		0.607	ENSG00000149090	11222	g.chr11:35454286G>A	proteolysis	extracellular region	serine-type endopeptidase activity							109.30925	KEEP	22	20	-1	14	25	22	20	-1	109.312148	14	25	0.507246	1	0	0	0	0	1	0	0	0	--	--		0	A			PAMR1_uc001mwf.2_Missense_Mutation_p.S611F|PAMR1_uc010rew.1_Missense_Mutation_p.S483F|PAMR1_uc010rex.1_Missense_Mutation_p.S554F	65	GBM-06-0743-TP	p.S594F	G	AGTGATGTGGGACTCCTGGAA	NM_001001991	NP_001001991	35454286	Q6UXH9	PAMR1_HUMAN	0			11	1824	-	A	A			Missense_Mutation	594			Peptidase S1.			
PAMR1	0	broad.mit.edu	GRCh37	11	35454046	35454046	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278360.3:c.2072C>T	p.Pro691Leu	p.P691L	ENST00000278360	NM_015430.2	691	cCg/cTg	0		A:0	1	A:0		A	P/L	uc001mwg.2	protein_coding	YES	CCDS7898.1			2072/2214									ovary(2)	2	c.(2020-2022)CCG>CTG			Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24254,hmmpanther:PTHR24254:SF7,SMART_domains:SM00020,Superfamily_domains:SSF50494	regeneration associated muscle protease isoform		A:0.002		ENSP00000278360	A:0	12-Dec	5.77E-05	9.62E-05	8.65E-05	0.000578					rs201029324,COSM3397652	12-Dec	common_variant		ENST00000278360	Transcript		A:0.0004	proteolysis	extracellular region	serine-type endopeptidase activity	ENSG00000149090	g.chr11:35454046G>A	24554			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=PAMR1_HUMAN&rb=452&re=715&var=P674L	getma.org/pdb.php?prot=PAMR1_HUMAN&from=452&to=715&var=P674L	getma.org/?cm=var&var=hg19,11,35454046,G,A&fts=all	P674L	--	--	1																																		PAMR1_uc001mwf.2_Missense_Mutation_p.P691L|PAMR1_uc010rew.1_Missense_Mutation_p.P563L|PAMR1_uc010rex.1_Missense_Mutation_p.P634L	0,1	1		probably_damaging(1)	p.P674L	NM_001001991	NP_001001991	A:0	deleterious(0.04)	0,1	PAMR1_HUMAN	PAMR1	HGNC	Q6UXH9	PAMR1_HUMAN			E9PQ70_HUMAN		11	2064	-			UPI000013DB70	674			Peptidase S1.		SNV	PAMR1,missense_variant,p.Pro674Leu,ENST00000378880,NM_001001991.1;PAMR1,missense_variant,p.Pro634Leu,ENST00000532848,NM_001282675.1;PAMR1,missense_variant,p.Pro691Leu,ENST00000278360,NM_015430.2;PAMR1,missense_variant,p.Pro651Leu,ENST00000527605,;PAMR1,missense_variant,p.Pro563Leu,ENST00000378878,NM_001282676.1;PAMR1,downstream_gene_variant,,ENST00000531219,;	uc001mwg.2	c.2021C>T	2110/2786	2	2			c.2021C>T						11	SNP	c.(2020-2022)CCG>CTG	32	32			ovary(2)	2	Broad	regeneration associated muscle protease isoform			35454046		0.567	ENSG00000149090	11222	g.chr11:35454046G>A	proteolysis	extracellular region	serine-type endopeptidase activity							119.997999	KEEP	18	31	-1	51	53	18	31	-1	123.938949	51	53	0.318519	1	0	0	0	0	1	0	0	0	--	--		0	A			PAMR1_uc001mwf.2_Missense_Mutation_p.P691L|PAMR1_uc010rew.1_Missense_Mutation_p.P563L|PAMR1_uc010rex.1_Missense_Mutation_p.P634L	249	GBM-32-5222-TP	p.P674L	G	TGCTCGTCCCGGGAAGGACAC	NM_001001991	NP_001001991	35454046	Q6UXH9	PAMR1_HUMAN	0			11	2064	-	A	A			Missense_Mutation	674			Peptidase S1.			
PAN3	255967	broad.mit.edu	GRCh37	13	28841518	28841518	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-02-2486-01	TCGA-02-2486-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380958.3:c.1772A>C	p.Tyr591Ser	p.Y591S	ENST00000380958	NM_175854.7	591	tAc/tCc	0			1			C	Y/S	uc001urz.2	protein_coding	YES	CCDS9329.2			1772/2664									ovary(1)	1	c.(1333-1335)TAC>TCC			PROSITE_profiles:PS50011,hmmpanther:PTHR12272,Superfamily_domains:SSF56112	PABP1-dependent poly A-specific ribonuclease				ENSP00000370345		19-Dec									COSM3399314,COSM3399315,COSM3399313	19-Dec	.		ENST00000380958	Transcript			nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	ENSG00000152520	g.chr13:28841518A>C	29991			MODERATE		-0.4	neutral	getma.org/?cm=msa&ty=f&p=PAN3_HUMAN&rb=492&re=754&var=Y591S	getma.org/pdb.php?prot=PAN3_HUMAN&from=492&to=754&var=Y591S	getma.org/?cm=var&var=hg19,13,28841518,A,C&fts=all	Y591S	--	--	1																																		PAN3_uc010tdo.1_Missense_Mutation_p.Y591S|PAN3_uc001ury.2_Missense_Mutation_p.Y279S|PAN3_uc001urx.2_Missense_Mutation_p.Y391S	1,1,1	1		benign(0.064)	p.Y445S	NM_175854	NP_787050		tolerated(0.12)	1,1,1	PAN3_HUMAN	PAN3	HGNC	Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	Q6ZMN5_HUMAN		11	1342	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	UPI0001BE8112	591			Protein kinase.|Interaction with PAN2.		SNV	PAN3,missense_variant,p.Tyr391Ser,ENST00000399613,;PAN3,missense_variant,p.Tyr279Ser,ENST00000282391,;PAN3,missense_variant,p.Tyr591Ser,ENST00000380958,NM_175854.7;PAN3,non_coding_transcript_exon_variant,,ENST00000503791,;	uc001urz.2	c.1334A>C	1924/2833	3	3			c.1334A>C						13	SNP	c.(1333-1335)TAC>TCC	52	52			ovary(1)	1	Broad	PABP1-dependent poly A-specific ribonuclease			28841518		0.363	ENSG00000152520	11224	g.chr13:28841518A>C	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity							109.706023	KEEP	19	17	-1	34	37	19	17	-1	112.346058	34	37	0.330097	1	0	0	0	0	1	0	0	0	--	--		0	C			PAN3_uc010tdo.1_Missense_Mutation_p.Y591S|PAN3_uc001ury.2_Missense_Mutation_p.Y279S|PAN3_uc001urx.2_Missense_Mutation_p.Y391S	8	GBM-02-2486-TP	p.Y445S	A	GCTGATGCCTACTTCACCAAG	NM_175854	NP_787050	28841518	Q58A45	PAN3_HUMAN	0	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	11	1342	+	C	C	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Missense_Mutation	591			Protein kinase.|Interaction with PAN2.			
PAN3	255967	broad.mit.edu	GRCh37	13	28851372	28851372	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G			TCGA-06-0128-01	TCGA-06-0128-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380958.3:c.2050-2A>G		p.X684_splice	ENST00000380958	NM_175854.7	684		0			1			G		uc001urz.2	protein_coding	YES	CCDS9329.2			2050/2664									ovary(1)	1	c.e14-2				PABP1-dependent poly A-specific ribonuclease				ENSP00000370345											COSM3399317,COSM3399318,COSM3399316		.		ENST00000380958	Transcript			nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	ENSG00000152520	g.chr13:28851372A>G	29991			HIGH	14/18							--	--	1																																		PAN3_uc001ury.2_Splice_Site_p.Q372_splice|PAN3_uc001urx.2_Splice_Site_p.Q484_splice	1,1,1	1			p.Q538_splice	NM_175854	NP_787050			1,1,1	PAN3_HUMAN	PAN3	HGNC	Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	Q6ZMN5_HUMAN		14	1620	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	UPI0001BE8112						SNV	PAN3,splice_acceptor_variant,,ENST00000399613,;PAN3,splice_acceptor_variant,,ENST00000282391,;PAN3,splice_acceptor_variant,,ENST00000380958,NM_175854.7;PAN3,downstream_gene_variant,,ENST00000503791,;	uc001urz.2	c.1612_splice	-/2833	5	3			c.1612_splice						13	SNP	c.e14-2	56	56			ovary(1)	1	Broad	PABP1-dependent poly A-specific ribonuclease			28851372		0.343	ENSG00000152520	11224	g.chr13:28851372A>G	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity							20.042301	KEEP	9	4	-1	48	26	9	4	-1	30.136126	48	26	0.144578	1	0	0	0	0	0	0	0	1	--	--		0	G			PAN3_uc001ury.2_Splice_Site_p.Q372_splice|PAN3_uc001urx.2_Splice_Site_p.Q484_splice	14	GBM-06-0128-TP	p.Q538_splice	A	CTTTCATGTCAGCAAGCAGAT	NM_175854	NP_787050	28851372	Q58A45	PAN3_HUMAN	0	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	14	1620	+	G	G	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Splice_Site							
PAN3	255967	broad.mit.edu	GRCh37	13	28840979	28840979	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0145-01	TCGA-06-0145-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380958.3:c.1539A>T	p.Lys513Asn	p.K513N	ENST00000380958	NM_175854.7	513	aaA/aaT	0			1			T	K/N	uc001urz.2	protein_coding	YES	CCDS9329.2			1539/2664									ovary(1)	1	c.(1099-1101)AAA>AAT			PROSITE_profiles:PS50011,hmmpanther:PTHR12272,Gene3D:3.30.200.20,Superfamily_domains:SSF56112	PABP1-dependent poly A-specific ribonuclease				ENSP00000370345		19-Oct									COSM2149716,COSM2149717,COSM2149715	19-Oct	.		ENST00000380958	Transcript			nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	ENSG00000152520	g.chr13:28840979A>T	29991			MODERATE		1.965	medium	getma.org/?cm=msa&ty=f&p=PAN3_HUMAN&rb=492&re=754&var=K513N	getma.org/pdb.php?prot=PAN3_HUMAN&from=492&to=754&var=K513N	getma.org/?cm=var&var=hg19,13,28840979,A,T&fts=all	K513N	--	--	1																																		PAN3_uc010tdo.1_Missense_Mutation_p.K513N|PAN3_uc001ury.2_Missense_Mutation_p.K201N|PAN3_uc001urx.2_Missense_Mutation_p.K313N	1,1,1	1		probably_damaging(0.998)	p.K367N	NM_175854	NP_787050		deleterious(0.04)	1,1,1	PAN3_HUMAN	PAN3	HGNC	Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	Q6ZMN5_HUMAN		9	1109	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	UPI0001BE8112	513			Protein kinase.|Interaction with PAN2.		SNV	PAN3,missense_variant,p.Lys313Asn,ENST00000399613,;PAN3,missense_variant,p.Lys201Asn,ENST00000282391,;PAN3,missense_variant,p.Lys513Asn,ENST00000380958,NM_175854.7;PAN3,non_coding_transcript_exon_variant,,ENST00000503791,;	uc001urz.2	c.1101A>T	1691/2833	1	1			c.1101A>T						13	SNP	c.(1099-1101)AAA>AAT	1	1			ovary(1)	1	Broad	PABP1-dependent poly A-specific ribonuclease			28840979		0.373	ENSG00000152520	11224	g.chr13:28840979A>T	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity							128.778445	KEEP	24	23	-1	27	40	24	23	-1	129.255698	27	40	0.427184	1	0	0	0	0	1	0	0	0	--	--		0	T			PAN3_uc010tdo.1_Missense_Mutation_p.K513N|PAN3_uc001ury.2_Missense_Mutation_p.K201N|PAN3_uc001urx.2_Missense_Mutation_p.K313N	23	GBM-06-0145-TP	p.K367N	A	TAAACAGCAAAGATGATCTGC	NM_175854	NP_787050	28840979	Q58A45	PAN3_HUMAN	0	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	9	1109	+	T	T	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Missense_Mutation	513			Protein kinase.|Interaction with PAN2.			
PAN3	0	broad.mit.edu	GRCh37	13	28794510	28794510	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01	TCGA-14-0789-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380958.3:c.995C>T	p.Ala332Val	p.A332V	ENST00000380958	NM_175854.7	332	gCg/gTg	0			1			T	A/V	uc001urz.2	protein_coding	YES	CCDS9329.2			995/2664									ovary(1)	1	c.(556-558)GCG>GTG			hmmpanther:PTHR12272	PABP1-dependent poly A-specific ribonuclease				ENSP00000370345		19-Jun	1.65E-05					1.50E-05		6.08E-05	rs775770672,COSM3399312,COSM3399311	19-Jun	.		ENST00000380958	Transcript			nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	ENSG00000152520	g.chr13:28794510C>T	29991			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=PAN3_HUMAN&rb=201&re=400&var=A332V	NA	getma.org/?cm=var&var=hg19,13,28794510,C,T&fts=all	A332V	--	--	1																																		PAN3_uc010tdo.1_Missense_Mutation_p.A332V|PAN3_uc001ury.2_5'UTR|PAN3_uc001urx.2_Missense_Mutation_p.A132V	0,1,1	1		possibly_damaging(0.551)	p.A186V	NM_175854	NP_787050		tolerated(0.05)	0,1,1	PAN3_HUMAN	PAN3	HGNC	Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	Q6ZMN5_HUMAN		5	565	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	UPI0001BE8112	332			Interaction with polyadenylate-binding protein.		SNV	PAN3,missense_variant,p.Ala132Val,ENST00000399613,;PAN3,missense_variant,p.Ala332Val,ENST00000380958,NM_175854.7;PAN3,non_coding_transcript_exon_variant,,ENST00000503791,;EEF1A1P3,downstream_gene_variant,,ENST00000417549,;	uc001urz.2	c.557C>T	1147/2833	2	2			c.557C>T						13	SNP	c.(556-558)GCG>GTG	40	40			ovary(1)	1	Broad	PABP1-dependent poly A-specific ribonuclease			28794510		0.423	ENSG00000152520	11224	g.chr13:28794510C>T	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity							282.412086	KEEP	58	55	-1	135	149	58	55	-1	297.581329	135	149	0.283333	1	0	0	0	0	1	0	0	0	--	--		0	T			PAN3_uc010tdo.1_Missense_Mutation_p.A332V|PAN3_uc001ury.2_5'UTR|PAN3_uc001urx.2_Missense_Mutation_p.A132V	136	GBM-14-0789-TP	p.A186V	C	GCTGGATTAGCGCCAGGTAAG	NM_175854	NP_787050	28794510	Q58A45	PAN3_HUMAN	0	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	5	565	+	T	T	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Missense_Mutation	332			Interaction with polyadenylate-binding protein.			
PAN3	0	broad.mit.edu	GRCh37	13	28794497	28794497	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-4208-01	TCGA-32-4208-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380958.3:c.982A>G	p.Thr328Ala	p.T328A	ENST00000380958	NM_175854.7	328	Act/Gct	0			1			G	T/A	uc001urz.2	protein_coding	YES	CCDS9329.2			982/2664									ovary(1)	1	c.(544-546)ACT>GCT			hmmpanther:PTHR12272	PABP1-dependent poly A-specific ribonuclease				ENSP00000370345		19-Jun									COSM3399310,COSM3399309	19-Jun	.		ENST00000380958	Transcript			nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	ENSG00000152520	g.chr13:28794497A>G	29991			MODERATE		-0.55	neutral	getma.org/?cm=msa&ty=f&p=PAN3_HUMAN&rb=201&re=400&var=T328A	NA	getma.org/?cm=var&var=hg19,13,28794497,A,G&fts=all	T328A	--	--	1																																		PAN3_uc010tdo.1_Missense_Mutation_p.T328A|PAN3_uc001ury.2_5'UTR|PAN3_uc001urx.2_Missense_Mutation_p.T128A	1,1	1		benign(0.001)	p.T182A	NM_175854	NP_787050		tolerated(0.9)	1,1	PAN3_HUMAN	PAN3	HGNC	Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	Q6ZMN5_HUMAN		5	552	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	UPI0001BE8112	328			Interaction with polyadenylate-binding protein.		SNV	PAN3,missense_variant,p.Thr128Ala,ENST00000399613,;PAN3,missense_variant,p.Thr328Ala,ENST00000380958,NM_175854.7;PAN3,non_coding_transcript_exon_variant,,ENST00000503791,;EEF1A1P3,downstream_gene_variant,,ENST00000417549,;	uc001urz.2	c.544A>G	1134/2833	4	4			c.544A>G						13	SNP	c.(544-546)ACT>GCT	24	24			ovary(1)	1	Broad	PABP1-dependent poly A-specific ribonuclease			28794497		0.438	ENSG00000152520	11224	g.chr13:28794497A>G	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity							794.055101	KEEP	119	149	-1	160	223	119	149	-1	797.960511	160	223	0.408582	1	0	0	0	0	1	0	0	0	--	--		0	G			PAN3_uc010tdo.1_Missense_Mutation_p.T328A|PAN3_uc001ury.2_5'UTR|PAN3_uc001urx.2_Missense_Mutation_p.T128A	243	GBM-32-4208-TP	p.T182A	A	AAGCCCTGCTACTGCTGGATT	NM_175854	NP_787050	28794497	Q58A45	PAN3_HUMAN	0	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	5	552	+	G	G	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Missense_Mutation	328			Interaction with polyadenylate-binding protein.			
PAN3	255967		GRCh37	13	28794483	28794483	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000380958.3:c.968T>C	p.Met323Thr	p.M323T	ENST00000380958	NM_175854.7	323	aTg/aCg	0																																																																																																																																																																																																																																												
PANX1	0	broad.mit.edu	GRCh37	11	93911644	93911644	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-76-6282-01	TCGA-76-6282-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000227638.3:c.431A>T	p.Glu144Val	p.E144V	ENST00000227638	NM_015368.3	144	gAa/gTa	0			1			T	E/V	uc001per.2	protein_coding	YES	CCDS8296.1			431/1281										0	c.(430-432)GAA>GTA			Pfam_domain:PF00876,hmmpanther:PTHR15759,hmmpanther:PTHR15759:SF5,PROSITE_profiles:PS51013	pannexin 1				ENSP00000227638		5-Mar									COSM3398214	5-Mar	.		ENST00000227638	Transcript			positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding	ENSG00000110218	g.chr11:93911644A>T	8599			MODERATE		2.24	medium	getma.org/?cm=msa&ty=f&p=PANX1_HUMAN&rb=31&re=263&var=E144V	NA	getma.org/?cm=var&var=hg19,11,93911644,A,T&fts=all	E144V	--	--	1																																		PANX1_uc001peq.2_Missense_Mutation_p.E144V	1	1		probably_damaging(0.951)	p.E144V	NM_015368	NP_056183		deleterious(0.05)	1	PANX1_HUMAN	PANX1	HGNC	Q96RD7	PANX1_HUMAN					3	816	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	UPI000004C63F	144			Cytoplasmic (Potential).		SNV	PANX1,missense_variant,p.Glu144Val,ENST00000227638,NM_015368.3;PANX1,missense_variant,p.Glu144Val,ENST00000436171,;	uc001per.2	c.431A>T	816/2769	2	2			c.431A>T						11	SNP	c.(430-432)GAA>GTA	32	32				0	Broad	pannexin 1			93911644		0.502	ENSG00000110218	11229	g.chr11:93911644A>T	positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding							-4.250097	KEEP	3	1	-1	25	33	3	1	-1	7.433786	25	33	0.066667	1	0	0	0	0	1	0	0	0	--	--		0	T			PANX1_uc001peq.2_Missense_Mutation_p.E144V	278	GBM-76-6282-TP	p.E144V	A	TTTATCATGGAAGAACTTGAC	NM_015368	NP_056183	93911644	Q96RD7	PANX1_HUMAN	0			3	816	+	T	T		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	Missense_Mutation	144			Cytoplasmic (Potential).			
PANX2	56666		GRCh37	22	50617533	50617533	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000395842.2:c.1861G>A	p.Ala621Thr	p.A621T	ENST00000395842	NM_052839.3	621	Gcc/Acc	0																																																																																																																																																																																																																																												
PANX3	0	broad.mit.edu	GRCh37	11	124489386	124489386	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-26-5132-01	TCGA-26-5132-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284288.2:c.734A>G	p.Lys245Arg	p.K245R	ENST00000284288	NM_052959.2	245	aAg/aGg	0			1			G	K/R	uc001qah.2	protein_coding	YES	CCDS8447.1			734/1179										0	c.(733-735)AAG>AGG			Pfam_domain:PF00876,PROSITE_profiles:PS51013,hmmpanther:PTHR15759,hmmpanther:PTHR15759:SF3	pannexin 3				ENSP00000284288		4-Apr									COSM2156918	4-Apr	.		ENST00000284288	Transcript			protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	ENSG00000154143	g.chr11:124489386A>G	20573			MODERATE		0.475	neutral	getma.org/?cm=msa&ty=f&p=PANX3_HUMAN&rb=33&re=277&var=K245R	NA	getma.org/?cm=var&var=hg19,11,124489386,A,G&fts=all	K245R	--	--	1																																			1	1		probably_damaging(0.996)	p.K245R	NM_052959	NP_443191		tolerated(0.58)	1	PANX3_HUMAN	PANX3	HGNC	Q96QZ0	PANX3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)			4	734	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	UPI0000131264	245			Extracellular (Potential).		SNV	PANX3,missense_variant,p.Lys245Arg,ENST00000284288,NM_052959.2;TBRG1,upstream_gene_variant,,ENST00000441174,NM_032811.2;TBRG1,upstream_gene_variant,,ENST00000375005,;TBRG1,upstream_gene_variant,,ENST00000531667,;TBRG1,upstream_gene_variant,,ENST00000284290,;TBRG1,upstream_gene_variant,,ENST00000529543,;TBRG1,upstream_gene_variant,,ENST00000473629,;TBRG1,upstream_gene_variant,,ENST00000530731,;TBRG1,upstream_gene_variant,,ENST00000452080,;	uc001qah.2	c.734A>G	801/1667	3	3			c.734A>G						11	SNP	c.(733-735)AAG>AGG	13	13				0	Broad	pannexin 3			124489386		0.488	ENSG00000154143	11231	g.chr11:124489386A>G	protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity							149.401984	KEEP	21	24	-1	34	40	21	24	-1	150.634905	34	40	0.387387	1	0	0	0	0	1	0	0	0	--	--		0	G				181	GBM-26-5132-TP	p.K245R	A	TGCTCCATCAAGACAGGGCTG	NM_052959	NP_443191	124489386	Q96QZ0	PANX3_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	4	734	+	G	G	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	Missense_Mutation	245			Extracellular (Potential).			
PAOX	196743	broad.mit.edu	GRCh37	10	135203245	135203245	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0646-01	TCGA-06-0646-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278060.5:c.1386C>T	p.Gly462=	p.G462=	ENST00000278060	NM_152911.2	462	ggC/ggT	0			1			T	G	uc001lmv.2	protein_coding	YES	CCDS7683.1			1386/1536										0	c.(1384-1386)GGC>GGT			Low_complexity_(Seg):seg,hmmpanther:PTHR10742,hmmpanther:PTHR10742:SF43,Pfam_domain:PF01593,Superfamily_domains:SSF51905	polyamine oxidase isoform 1				ENSP00000278060		7-Jun	3.34E-05			0.000134		3.71E-05			rs769136556,COSM2151312	7-Jun	.		ENST00000278060	Transcript			polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	ENSG00000148832	g.chr10:135203245C>T	20837			LOW								--	--	1																																		PAOX_uc001lmw.2_Intron|PAOX_uc001lmx.2_Intron|PAOX_uc001lmy.2_Intron|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_RNA	0,1	1			p.G462G	NM_152911	NP_690875			0,1	PAOX_HUMAN	PAOX	HGNC	Q6QHF9	PAOX_HUMAN		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)	D3DXI4_HUMAN,B0QZA9_HUMAN		6	1466	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	UPI000000D787	600					SNV	PAOX,synonymous_variant,p.=,ENST00000278060,NM_152911.2;PAOX,3_prime_UTR_variant,,ENST00000368539,;PAOX,intron_variant,,ENST00000357296,NM_207128.1;PAOX,intron_variant,,ENST00000480071,NM_207127.1;RP11-108K14.8,upstream_gene_variant,,ENST00000468317,;MTG1,upstream_gene_variant,,ENST00000317502,NM_138384.2;MTG1,upstream_gene_variant,,ENST00000477902,;MTG1,upstream_gene_variant,,ENST00000432508,;PAOX,non_coding_transcript_exon_variant,,ENST00000368535,;PAOX,upstream_gene_variant,,ENST00000530555,;PAOX,3_prime_UTR_variant,,ENST00000356306,;PAOX,3_prime_UTR_variant,,ENST00000476834,;PAOX,3_prime_UTR_variant,,ENST00000483211,;PAOX,intron_variant,,ENST00000529585,;MTG1,upstream_gene_variant,,ENST00000460848,;MTG1,upstream_gene_variant,,ENST00000473735,;MTG1,upstream_gene_variant,,ENST00000495014,;MTG1,upstream_gene_variant,,ENST00000498790,;	uc001lmv.2	c.1386C>T	1469/1858	2	2			c.1386C>T						10	SNP	c.(1384-1386)GGC>GGT	34	34				0	Broad	polyamine oxidase isoform 1			135203245		0.741	ENSG00000148832	11232	g.chr10:135203245C>T	polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity							48.055692	KEEP	4	12	-1	8	3	4	12	-1	48.294058	8	3	0.608696	1	0	0	0	0	0	0	1	0	--	--		0	T			PAOX_uc001lmw.2_Intron|PAOX_uc001lmx.2_Intron|PAOX_uc001lmy.2_Intron|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_RNA	60	GBM-06-0646-TP	p.G462G	C	ACGGCGCCGGCGCCCAGGTAT	NM_152911	NP_690875	135203245	Q6QHF9	PAOX_HUMAN	0		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)	6	1466	+	T	T		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	Silent	600						
PAOX	0	broad.mit.edu	GRCh37	10	135197588	135197588	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-26-5136-01	TCGA-26-5136-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278060.5:c.993C>A	p.Phe331Leu	p.F331L	ENST00000278060	NM_152911.2	331	ttC/ttA	0			1			A	F/L	uc001lmv.2	protein_coding	YES	CCDS7683.1			993/1536										0	c.(991-993)TTC>TTA			hmmpanther:PTHR10742,hmmpanther:PTHR10742:SF43,Pfam_domain:PF01593,Gene3D:3.90.660.10,Superfamily_domains:SSF54373,Superfamily_domains:SSF51905	polyamine oxidase isoform 1				ENSP00000278060		7-Apr									COSM3397012,COSM3397013	7-Apr	.		ENST00000278060	Transcript			polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	ENSG00000148832	g.chr10:135197588C>A	20837			MODERATE		3.4	medium	getma.org/?cm=msa&ty=f&p=PAOX_HUMAN&rb=170&re=635&var=F469L	getma.org/pdb.php?prot=PAOX_HUMAN&from=170&to=635&var=F469L	getma.org/?cm=var&var=hg19,10,135197588,C,A&fts=all	F469L	--	--	1																																		PAOX_uc001lmw.2_Intron|PAOX_uc001lmx.2_Missense_Mutation_p.F331L|PAOX_uc001lmy.2_Intron|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_Intron|PAOX_uc001lnc.2_Intron	1,1	1		possibly_damaging(0.486)	p.F331L	NM_152911	NP_690875		deleterious(0)	1,1	PAOX_HUMAN	PAOX	HGNC	Q6QHF9	PAOX_HUMAN		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)	D3DXI4_HUMAN,B0QZA9_HUMAN		4	1073	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	UPI000000D787	469					SNV	PAOX,missense_variant,p.Phe331Leu,ENST00000278060,NM_152911.2;PAOX,missense_variant,p.Phe331Leu,ENST00000357296,NM_207128.1;PAOX,3_prime_UTR_variant,,ENST00000368539,;PAOX,intron_variant,,ENST00000480071,NM_207127.1;AL360181.1,upstream_gene_variant,,ENST00000597657,;PAOX,non_coding_transcript_exon_variant,,ENST00000368535,;PAOX,downstream_gene_variant,,ENST00000528127,;PAOX,3_prime_UTR_variant,,ENST00000476834,;PAOX,intron_variant,,ENST00000356306,;PAOX,intron_variant,,ENST00000483211,;PAOX,intron_variant,,ENST00000529585,;	uc001lmv.2	c.993C>A	1076/1858	1	1			c.993C>A						10	SNP	c.(991-993)TTC>TTA	60	60				0	Broad	polyamine oxidase isoform 1			135197588		0.587	ENSG00000148832	11232	g.chr10:135197588C>A	polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity							-15.188206	KEEP	2	2	0.5	51	55	2	2	0.5	6.780332	51	55	0.041237	1	0	0	0	0	1	0	0	0	--	--		0	A			PAOX_uc001lmw.2_Intron|PAOX_uc001lmx.2_Missense_Mutation_p.F331L|PAOX_uc001lmy.2_Intron|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_Intron|PAOX_uc001lnc.2_Intron	185	GBM-26-5136-TP	p.F331L	C	AGGAGCCCTTCTGGGAGCCAG	NM_152911	NP_690875	135197588	Q6QHF9	PAOX_HUMAN	0		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)	4	1073	+	A	A		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	Missense_Mutation	469						
PAPD5	0	broad.mit.edu	GRCh37	16	50263117	50263117	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-26-5134-01	TCGA-26-5134-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000436909.3:c.1975C>G	p.Gln659Glu	p.Q659E	ENST00000436909	NM_001040285.2	659	Caa/Gaa	0			1			G	Q/E	uc010vgo.1	protein_coding	YES	CCDS54006.1			1975/2097										0	c.(1975-1977)CAA>GAA			hmmpanther:PTHR23092,hmmpanther:PTHR23092:SF26	PAP associated domain containing 5 isoform a				ENSP00000396995		13/13									COSM3402344	13/13	.		ENST00000436909	Transcript			cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding	ENSG00000121274	g.chr16:50263117C>G	30758			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=PAPD5_HUMAN&rb=369&re=568&var=Q533E	NA	getma.org/?cm=var&var=hg19,16,50263117,C,G&fts=all	Q533E	--	--	1																																		PAPD5_uc010cbi.2_Intron|PAPD5_uc002efz.2_Missense_Mutation_p.Q403E|PAPD5_uc002ega.2_Missense_Mutation_p.Q450E	1	1		benign(0.008)	p.Q659E	NM_001040284	NP_001035374		tolerated_low_confidence(0.87)	1	PAPD5_HUMAN	PAPD5	HGNC	Q8NDF8	PAPD5_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)	Q5EBM7_HUMAN,G4U4J3_HUMAN,B7ZLC1_HUMAN,B4DRJ7_HUMAN		13	2010	+		all_cancers(37;0.0452)	UPI00017A7DC6	533					SNV	PAPD5,missense_variant,p.Gln580Glu,ENST00000357464,;PAPD5,missense_variant,p.Gln659Glu,ENST00000436909,NM_001040285.2,NM_001040284.2;PAPD5,missense_variant,p.Gln549Glu,ENST00000561678,;PAPD5,non_coding_transcript_exon_variant,,ENST00000573002,;PAPD5,intron_variant,,ENST00000562717,;	uc010vgo.1	c.1975C>G	2010/4635	4	4			c.1975C>G						16	SNP	c.(1975-1977)CAA>GAA	24	24				0	Broad	PAP associated domain containing 5 isoform a			50263117		0.433	ENSG00000121274	11234	g.chr16:50263117C>G	cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding							206.738405	KEEP	27	33	-1	21	29	27	33	-1	206.875729	21	29	0.539216	1	0	0	0	0	1	0	0	0	--	--		0	G			PAPD5_uc010cbi.2_Intron|PAPD5_uc002efz.2_Missense_Mutation_p.Q403E|PAPD5_uc002ega.2_Missense_Mutation_p.Q450E	183	GBM-26-5134-TP	p.Q659E	C	AGGTACAACTCAAACAAGCCA	NM_001040284	NP_001035374	50263117	Q8NDF8	PAPD5_HUMAN	0		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)	13	2010	+	G	G		all_cancers(37;0.0452)	Missense_Mutation	533						
PAPD7	0	broad.mit.edu	GRCh37	5	6737716	6737717	+	frameshift_variant	Frame_Shift_Del	DEL	TG	TG	-			TCGA-06-0122-01	TCGA-06-0122-01	TG	TG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000230859.6:c.62_63del	p.Val21GlyfsTer9	p.V21Gfs*9	ENST00000230859	NM_001171805.1	20	acTGtg/actg	0			1			-	TV/TX	uc003jdx.1	protein_coding	YES	CCDS3871.1			60-61/1629									ovary(1)	1	c.(58-63)ACTGTGfs			Gene3D:3.30.460.10,Pfam_domain:PF01909,hmmpanther:PTHR23092,hmmpanther:PTHR23092:SF24,Superfamily_domains:SSF81301	DNA polymerase sigma				ENSP00000230859		13-Feb									COSM2149209	13-Feb	.		ENST00000230859	Transcript			cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	ENSG00000112941	g.chr5:6737716_6737717delTG	16705	2		HIGH								--	--	1																																		PAPD7_uc011cmn.1_Frame_Shift_Del_p.T11fs	1	1			p.T20fs	NM_006999	NP_008930			1	PAPD7_HUMAN	PAPD7	HGNC	Q5XG87	PAPD7_HUMAN			M1JCE6_HUMAN,D6RJD0_HUMAN,B7ZLL4_HUMAN,B4E0T3_HUMAN		2	189_190	+			UPI0000071E30	20_21					deletion	PAPD7,frameshift_variant,p.Val21GlyfsTer9,ENST00000230859,NM_001171805.1,NM_006999.4,NM_001171806.1;PAPD7,frameshift_variant,p.Val21GlyfsTer?,ENST00000515721,;	uc003jdx.1	c.60_61delTG	189-190/3861	5	5			c.60_61delTG						5	DEL	c.(58-63)ACTGTGfs	14	14			ovary(1)	1	Broad	DNA polymerase sigma			6737717		0.436	ENSG00000112941	11235	g.chr5:6737716_6737717delTG	cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	NSCLC(7;212 333 5667 23379 46547)			NSCLC(7;212 333 5667 23379 46547)																0.43	1	1	0	1	0	0	0	0	0	--	--		0	-			PAPD7_uc011cmn.1_Frame_Shift_Del_p.T11fs	10	GBM-06-0122-TP	p.T20fs	TG	GGATCGAAACTGTGGTGAAAGA	NM_006999	NP_008930	6737716	Q5XG87	PAPD7_HUMAN	0			2	189_190	+	-	-			Frame_Shift_Del	20_21						
PAPL	0	broad.mit.edu	GRCh37	19	39597641	39597641	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01	TCGA-02-0055-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331256.5:c.1168G>A	p.Val390Met	p.V390M	ENST00000331256	NM_001004318.2	390	Gtg/Atg	0			1			A	V/M	uc002oki.2	protein_coding	YES	CCDS33018.1			1168/1317										0	c.(1168-1170)GTG>ATG			hmmpanther:PTHR22953,hmmpanther:PTHR22953:SF9,Gene3D:3.60.21.10,Pfam_domain:PF14008,Superfamily_domains:SSF56300	iron/zinc purple acid phosphatase-like protein				ENSP00000327557		13-Dec	3.29E-05					3.03E-05		0.000121	rs546523874,COSM3404210	13-Dec	.		ENST00000331256	Transcript				extracellular region	acid phosphatase activity|metal ion binding	ENSG00000183760	g.chr19:39597641G>A				MODERATE		1.24	low	getma.org/?cm=msa&ty=f&p=PAPL_HUMAN&rb=361&re=425&var=V390M	NA	getma.org/?cm=var&var=hg19,19,39597641,G,A&fts=all	V390M	--	--	1																																		PAPL_uc010egl.2_Intron	0,1	1		benign(0.067)	p.V390M	NM_001004318	NP_001004318		deleterious(0.03)	0,1	PAPL_HUMAN	PAPL	Uniprot_gn	Q6ZNF0	PAPL_HUMAN					12	1442	+			UPI000041AA68	390					SNV	PAPL,missense_variant,p.Val390Met,ENST00000331256,NM_001004318.2;PAPL,intron_variant,,ENST00000594229,;PAPL,intron_variant,,ENST00000601531,;PAPL,3_prime_UTR_variant,,ENST00000601575,;	uc002oki.2	c.1168G>A	1442/2966	2	2			c.1168G>A						19	SNP	c.(1168-1170)GTG>ATG	32	32				0	Broad	iron/zinc purple acid phosphatase-like protein			39597641		0.652	ENSG00000183760	11236	g.chr19:39597641G>A		extracellular region	acid phosphatase activity|metal ion binding							15.771943	KEEP	3	9	-1	39	32	3	9	-1	25.239239	39	32	0.142857	1	0	0	0	0	1	0	0	0	--	--		0	A			PAPL_uc010egl.2_Intron	4	GBM-02-0055-TP	p.V390M	G	CTGGAGTGCCGTGCGTGTGAA	NM_001004318	NP_001004318	39597641	Q6ZNF0	PAPL_HUMAN	0			12	1442	+	A	A			Missense_Mutation	390						
PAPL	0	broad.mit.edu	GRCh37	19	39591969	39591969	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0124-01	TCGA-06-0124-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331256.5:c.1015C>T	p.Arg339Ter	p.R339*	ENST00000331256	NM_001004318.2	339	Cga/Tga	0			1			T	R/*	uc002oki.2	protein_coding	YES	CCDS33018.1			1015/1317										0	c.(1015-1017)CGA>TGA			hmmpanther:PTHR22953,hmmpanther:PTHR22953:SF9,Gene3D:3.60.21.10,Superfamily_domains:SSF56300	iron/zinc purple acid phosphatase-like protein				ENSP00000327557		13-Oct	4.12E-05					7.52E-05			rs560738276,COSM3404208	13-Oct	.		ENST00000331256	Transcript				extracellular region	acid phosphatase activity|metal ion binding	ENSG00000183760	g.chr19:39591969C>T				HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,19,39591969,C,T&fts=all	R339*	--	--	1																																		PAPL_uc010egl.2_Silent_p.N297N	0,1	1			p.R339*	NM_001004318	NP_001004318			0,1	PAPL_HUMAN	PAPL	Uniprot_gn	Q6ZNF0	PAPL_HUMAN					10	1289	+			UPI000041AA68	339					SNV	PAPL,stop_gained,p.Arg339Ter,ENST00000331256,NM_001004318.2;PAPL,stop_gained,p.Arg198Ter,ENST00000601531,;PAPL,synonymous_variant,p.=,ENST00000594229,;PAPL,synonymous_variant,p.=,ENST00000601575,;	uc002oki.2	c.1015C>T	1289/2966	5	1			c.1015C>T						19	SNP	c.(1015-1017)CGA>TGA	14	14				0	Broad	iron/zinc purple acid phosphatase-like protein			39591969		0.597	ENSG00000183760	11236	g.chr19:39591969C>T		extracellular region	acid phosphatase activity|metal ion binding							33.551744	KEEP	12	10	-1	67	43	12	10	-1	46.230905	67	43	0.162393	1	0	0	0	0	0	1	0	0	--	--		0	T			PAPL_uc010egl.2_Silent_p.N297N	11	GBM-06-0124-TP	p.R339*	C	CTCGTATGAACGACTGTGGCC	NM_001004318	NP_001004318	39591969	Q6ZNF0	PAPL_HUMAN	0			10	1289	+	T	T			Nonsense_Mutation	339						
PAPL	0	broad.mit.edu	GRCh37	19	39591660	39591660	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0169-01	TCGA-06-0169-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331256.5:c.879C>T	p.Asn293=	p.N293=	ENST00000331256	NM_001004318.2	293	aaC/aaT	0			1			T	N	uc002oki.2	protein_coding	YES	CCDS33018.1			879/1317										0	c.(877-879)AAC>AAT			hmmpanther:PTHR22953,hmmpanther:PTHR22953:SF9,Gene3D:3.60.21.10,Pfam_domain:PF00149,Superfamily_domains:SSF56300	iron/zinc purple acid phosphatase-like protein				ENSP00000327557		13-Aug	1.65E-05					1.51E-05		6.06E-05	rs756183542,COSM2150269	13-Aug	.		ENST00000331256	Transcript				extracellular region	acid phosphatase activity|metal ion binding	ENSG00000183760	g.chr19:39591660C>T				LOW								--	--	1																																		PAPL_uc010egl.2_Missense_Mutation_p.T252M	0,1	1			p.N293N	NM_001004318	NP_001004318			0,1	PAPL_HUMAN	PAPL	Uniprot_gn	Q6ZNF0	PAPL_HUMAN					8	1153	+			UPI000041AA68	293					SNV	PAPL,missense_variant,p.Thr252Met,ENST00000594229,;PAPL,synonymous_variant,p.=,ENST00000331256,NM_001004318.2;PAPL,synonymous_variant,p.=,ENST00000601531,;PAPL,missense_variant,p.Thr284Met,ENST00000601575,;	uc002oki.2	c.879C>T	1153/2966	1	1			c.879C>T						19	SNP	c.(877-879)AAC>AAT	12	12				0	Broad	iron/zinc purple acid phosphatase-like protein			39591660		0.612	ENSG00000183760	11236	g.chr19:39591660C>T		extracellular region	acid phosphatase activity|metal ion binding							75.592492	KEEP	11	19	-1	29	40	11	19	-1	79.102548	29	40	0.293478	1	0	0	0	0	0	0	1	0	--	--		0	T			PAPL_uc010egl.2_Missense_Mutation_p.T252M	34	GBM-06-0169-TP	p.N293N	C	ACTGCTCCAACGCAGATCTGG	NM_001004318	NP_001004318	39591660	Q6ZNF0	PAPL_HUMAN	0			8	1153	+	T	T			Silent	293						
PAPL	0	broad.mit.edu	GRCh37	19	39589268	39589268	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01	TCGA-06-0185-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331256.5:c.292C>T	p.Leu98Phe	p.L98F	ENST00000331256	NM_001004318.2	98	Ctt/Ttt	0			1			T	L/F	uc002oki.2	protein_coding	YES	CCDS33018.1			292/1317										0	c.(292-294)CTT>TTT			hmmpanther:PTHR22953,hmmpanther:PTHR22953:SF9,Gene3D:2qfpA01,Superfamily_domains:SSF49363	iron/zinc purple acid phosphatase-like protein				ENSP00000327557		13-Mar									COSM2150505	13-Mar	.		ENST00000331256	Transcript				extracellular region	acid phosphatase activity|metal ion binding	ENSG00000183760	g.chr19:39589268C>T				MODERATE		2.85	medium	getma.org/?cm=msa&ty=f&p=PAPL_HUMAN&rb=1&re=133&var=L98F	NA	getma.org/?cm=var&var=hg19,19,39589268,C,T&fts=all	L98F	--	--	1																																		PAPL_uc010egl.2_Missense_Mutation_p.L98F	1	1		probably_damaging(0.991)	p.L98F	NM_001004318	NP_001004318		deleterious(0)	1	PAPL_HUMAN	PAPL	Uniprot_gn	Q6ZNF0	PAPL_HUMAN					3	566	+			UPI000041AA68	98					SNV	PAPL,missense_variant,p.Leu98Phe,ENST00000331256,NM_001004318.2;PAPL,missense_variant,p.Leu98Phe,ENST00000594229,;PAPL,upstream_gene_variant,,ENST00000601531,;PAPL,missense_variant,p.Leu98Phe,ENST00000601575,;	uc002oki.2	c.292C>T	566/2966	2	2			c.292C>T						19	SNP	c.(292-294)CTT>TTT	17	17				0	Broad	iron/zinc purple acid phosphatase-like protein			39589268		0.647	ENSG00000183760	11236	g.chr19:39589268C>T		extracellular region	acid phosphatase activity|metal ion binding							71.622502	KEEP	15	20	-1	37	31	15	20	-1	73.5421	37	31	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	T			PAPL_uc010egl.2_Missense_Mutation_p.L98F	40	GBM-06-0185-TP	p.L98F	C	CCGAGTCACGCTTCGCAAGCT	NM_001004318	NP_001004318	39589268	Q6ZNF0	PAPL_HUMAN	0			3	566	+	T	T			Missense_Mutation	98						
PAPLN	89932	broad.mit.edu	GRCh37	14	73717702	73717702	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340738.5:c.553G>A	p.Val185Ile	p.V185I	ENST00000340738	NM_173462.3	185	Gtc/Atc	0			1			A	V/I	uc010ttx.1	protein_coding					553/3837									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(553-555)GTC>ATC			Pfam_domain:PF05986,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF20	papilin				ENSP00000451803		26-Jun	3.29E-05			0.000117		4.54E-05			rs773214278,COSM2149778,COSM2149779	26-Jun	.		ENST00000554301	Transcript				proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	ENSG00000100767	g.chr14:73717702G>A	19262			MODERATE		1.44	low	getma.org/?cm=msa&ty=f&p=PPN_HUMAN&rb=183&re=298&var=V185I	NA	getma.org/?cm=var&var=hg19,14,73717702,G,A&fts=all	V185I	--	--	1																																		PAPLN_uc001xnw.3_Missense_Mutation_p.V185I|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.V185I	0,1,1			benign(0.323)	p.V185I	NM_173462	NP_775733		deleterious(0.05)	0,1,1	PPN_HUMAN	PAPLN	HGNC	O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	B3KXI1_HUMAN		6	716	+			UPI0001890E03	185					SNV	PAPLN,missense_variant,p.Val185Ile,ENST00000427855,;PAPLN,missense_variant,p.Val185Ile,ENST00000340738,NM_173462.3;PAPLN,missense_variant,p.Val185Ile,ENST00000381166,;PAPLN,missense_variant,p.Val185Ile,ENST00000555445,;PAPLN,missense_variant,p.Val185Ile,ENST00000554301,;RNU6-419P,upstream_gene_variant,,ENST00000517030,;PAPLN,missense_variant,p.Val185Ile,ENST00000216658,;PAPLN,missense_variant,p.Val185Ile,ENST00000555123,;PAPLN,non_coding_transcript_exon_variant,,ENST00000555035,;	uc010ttx.1	c.553G>A	716/4090	2	2			c.553G>A						14	SNP	c.(553-555)GTC>ATC	18	18			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	papilin			73717702		0.632	ENSG00000100767	11237	g.chr14:73717702G>A		proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding							148.022733	KEEP	31	24	-1	45	45	31	24	-1	149.363254	45	45	0.390625	1	0	0	0	0	1	0	0	0	--	--		0	A			PAPLN_uc001xnw.3_Missense_Mutation_p.V185I|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.V185I	23	GBM-06-0145-TP	p.V185I	G	CTGCTACCCCGTCGCAGGCAC	NM_173462	NP_775733	73717702	O95428	PPN_HUMAN	0		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	6	716	+	A	A			Missense_Mutation	185						
PAPLN	0	broad.mit.edu	GRCh37	14	73729314	73729314	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4927-01	TCGA-76-4927-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000554301.1:c.2502C>T	p.Gly834=	p.G834=	ENST00000554301		834	ggC/ggT	0			1			T	G	uc010ttx.1	protein_coding					2502/3837									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(2500-2502)GGC>GGT			hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF20	papilin				ENSP00000451803		18/26									COSM3401453,COSM3401454	18/26	.		ENST00000554301	Transcript				proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	ENSG00000100767	g.chr14:73729314C>T	19262			LOW								--	--	1																																		PAPLN_uc001xnw.3_Silent_p.G807G|PAPLN_uc010arl.2_Intron|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Silent_p.G818G|PAPLN_uc010arm.2_Missense_Mutation_p.A26V|PAPLN_uc010arn.2_Silent_p.G34G	1,1				p.G834G	NM_173462	NP_775733			1,1	PPN_HUMAN	PAPLN	HGNC	O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	B3KXI1_HUMAN		18	2665	+			UPI0001890E03	834					SNV	PAPLN,synonymous_variant,p.=,ENST00000427855,;PAPLN,synonymous_variant,p.=,ENST00000340738,NM_173462.3;PAPLN,synonymous_variant,p.=,ENST00000381166,;PAPLN,synonymous_variant,p.=,ENST00000555445,;PAPLN,synonymous_variant,p.=,ENST00000554301,;PAPLN,synonymous_variant,p.=,ENST00000559759,;PAPLN,non_coding_transcript_exon_variant,,ENST00000554314,;PAPLN,synonymous_variant,p.=,ENST00000555123,;PAPLN,synonymous_variant,p.=,ENST00000557061,;PAPLN,non_coding_transcript_exon_variant,,ENST00000555700,;PAPLN,intron_variant,,ENST00000216658,;	uc010ttx.1	c.2502C>T	2665/4090	2	2			c.2502C>T						14	SNP	c.(2500-2502)GGC>GGT	21	21			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	papilin			73729314		0.682	ENSG00000100767	11237	g.chr14:73729314C>T		proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding							9.71353	KEEP	2	2	-1	4	6	2	2	-1	9.886401	4	6	0.363636	1	0	0	0	0	0	0	1	0	--	--		0	T			PAPLN_uc001xnw.3_Silent_p.G807G|PAPLN_uc010arl.2_Intron|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Silent_p.G818G|PAPLN_uc010arm.2_Missense_Mutation_p.A26V|PAPLN_uc010arn.2_Silent_p.G34G	267	GBM-76-4927-TP	p.G834G	C	GTCCTGCAGGCGAGCAGGAAC	NM_173462	NP_775733	73729314	O95428	PPN_HUMAN	0		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	18	2665	+	T	T			Silent	834						
PAPOLA	0	broad.mit.edu	GRCh37	14	97022277	97022277	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-14-1450-01	TCGA-14-1450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216277.8:c.1758C>G	p.Ser586Arg	p.S586R	ENST00000216277	NM_032632.4	586	agC/agG	0			1			G	S/R	uc001yfq.2	protein_coding	YES	CCDS9946.1			1758/2238										0	c.(1756-1758)AGC>AGG			PIRSF_domain:PIRSF018425,hmmpanther:PTHR10682,hmmpanther:PTHR10682:SF9,Low_complexity_(Seg):seg	poly(A) polymerase alpha				ENSP00000216277		18/22									COSM3401575	18/22	.		ENST00000216277	Transcript			mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	ENSG00000090060	g.chr14:97022277C>G	14981			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=PAPOA_HUMAN&rb=509&re=708&var=S586R	NA	getma.org/?cm=var&var=hg19,14,97022277,C,G&fts=all	S586R	--	--	1																																		PAPOLA_uc001yfr.2_Missense_Mutation_p.S585R|PAPOLA_uc010twv.1_Missense_Mutation_p.S586R|PAPOLA_uc010avp.2_Missense_Mutation_p.S336R	1	1		benign(0.303)	p.S586R	NM_032632	NP_116021		tolerated(0.22)	1	PAPOA_HUMAN	PAPOLA	HGNC	P51003	PAPOA_HUMAN		COAD - Colon adenocarcinoma(157;0.213)	G3V2A0_HUMAN,B7ZA53_HUMAN,B4DZL2_HUMAN		18	1968	+		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	UPI0000074269	586			Ser/Thr-rich.		SNV	PAPOLA,missense_variant,p.Ser586Arg,ENST00000216277,NM_032632.4;PAPOLA,missense_variant,p.Ser586Arg,ENST00000392990,;PAPOLA,missense_variant,p.Ser336Arg,ENST00000555626,;PAPOLA,missense_variant,p.Ser87Arg,ENST00000556459,;PAPOLA,3_prime_UTR_variant,,ENST00000553689,;PAPOLA,non_coding_transcript_exon_variant,,ENST00000556283,;PAPOLA,downstream_gene_variant,,ENST00000555701,;PAPOLA,downstream_gene_variant,,ENST00000556787,;PAPOLA,downstream_gene_variant,,ENST00000554135,;PAPOLA,upstream_gene_variant,,ENST00000553940,;	uc001yfq.2	c.1758C>G	1978/4519	3	3			c.1758C>G						14	SNP	c.(1756-1758)AGC>AGG	13	13				0	Broad	poly(A) polymerase alpha			97022277		0.398	ENSG00000090060	11238	g.chr14:97022277C>G	mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	NSCLC(19;254 734 11908 35501 39234)			NSCLC(19;254 734 11908 35501 39234)			100.905948	KEEP	18	16	-1	25	35	18	16	-1	102.0719	25	35	0.373494	1	0	0	0	0	1	0	0	0	--	--		0	G			PAPOLA_uc001yfr.2_Missense_Mutation_p.S585R|PAPOLA_uc010twv.1_Missense_Mutation_p.S586R|PAPOLA_uc010avp.2_Missense_Mutation_p.S336R	145	GBM-14-1450-TP	p.S586R	C	CCAGTGAAAGCTCAGGGGGTA	NM_032632	NP_116021	97022277	P51003	PAPOA_HUMAN	0		COAD - Colon adenocarcinoma(157;0.213)	18	1968	+	G	G		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	Missense_Mutation	586			Ser/Thr-rich.			
PAPOLA	0	broad.mit.edu	GRCh37	14	96986512	96986512	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-14-4157-01	TCGA-14-4157-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216277.8:c.129T>G	p.Ile43Met	p.I43M	ENST00000216277	NM_032632.4	43	atT/atG	0			1			G	I/M	uc001yfq.2	protein_coding	YES	CCDS9946.1			129/2238										0	c.(127-129)ATT>ATG			Pfam_domain:PF04928,PIRSF_domain:PIRSF018425,hmmpanther:PTHR10682,hmmpanther:PTHR10682:SF9,Superfamily_domains:SSF81301	poly(A) polymerase alpha				ENSP00000216277		22-Feb									COSM3401571,COSM3401572	22-Feb	.		ENST00000216277	Transcript			mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	ENSG00000090060	g.chr14:96986512T>G	14981			MODERATE		0.965	low	getma.org/?cm=msa&ty=f&p=PAPOA_HUMAN&rb=17&re=365&var=I43M	getma.org/pdb.php?prot=PAPOA_HUMAN&from=17&to=365&var=I43M	getma.org/?cm=var&var=hg19,14,96986512,T,G&fts=all	I43M	--	--	1																																		PAPOLA_uc001yfo.2_Missense_Mutation_p.I43M|PAPOLA_uc001yfp.2_Missense_Mutation_p.I43M|PAPOLA_uc001yfr.2_Missense_Mutation_p.I43M|PAPOLA_uc010twv.1_Missense_Mutation_p.I43M|PAPOLA_uc010avp.2_Translation_Start_Site	1,1	1		benign(0.216)	p.I43M	NM_032632	NP_116021		tolerated(0.14)	1,1	PAPOA_HUMAN	PAPOLA	HGNC	P51003	PAPOA_HUMAN		COAD - Colon adenocarcinoma(157;0.213)	G3V2A0_HUMAN,B7ZA53_HUMAN,B4DZL2_HUMAN		2	339	+		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	UPI0000074269	43					SNV	PAPOLA,missense_variant,p.Ile43Met,ENST00000216277,NM_032632.4;PAPOLA,missense_variant,p.Ile43Met,ENST00000557320,NM_001252007.1,NM_001252006.1;PAPOLA,missense_variant,p.Ile43Met,ENST00000392990,;PAPOLA,missense_variant,p.Ile43Met,ENST00000557471,;PAPOLA,missense_variant,p.Ile43Met,ENST00000556619,;PAPOLA,5_prime_UTR_variant,,ENST00000555626,;PAPOLA,non_coding_transcript_exon_variant,,ENST00000554130,;PAPOLA,non_coding_transcript_exon_variant,,ENST00000556248,;PAPOLA,non_coding_transcript_exon_variant,,ENST00000554887,;PAPOLA,missense_variant,p.Ile43Met,ENST00000553689,;PAPOLA,intron_variant,,ENST00000553357,;PAPOLA,upstream_gene_variant,,ENST00000555224,;PAPOLA,upstream_gene_variant,,ENST00000557406,;	uc001yfq.2	c.129T>G	349/4519	3	3			c.129T>G						14	SNP	c.(127-129)ATT>ATG	61	61				0	Broad	poly(A) polymerase alpha			96986512		0.408	ENSG00000090060	11238	g.chr14:96986512T>G	mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	NSCLC(19;254 734 11908 35501 39234)			NSCLC(19;254 734 11908 35501 39234)			-26.091559	KEEP	1	2	-1	72	75	1	2	-1	7.125287	72	75	0.022901	1	0	0	0	0	1	0	0	0	--	--		0	G			PAPOLA_uc001yfo.2_Missense_Mutation_p.I43M|PAPOLA_uc001yfp.2_Missense_Mutation_p.I43M|PAPOLA_uc001yfr.2_Missense_Mutation_p.I43M|PAPOLA_uc010twv.1_Missense_Mutation_p.I43M|PAPOLA_uc010avp.2_Translation_Start_Site	152	GBM-14-4157-TP	p.I43M	T	AGAAACTAATTGAGACATTGA	NM_032632	NP_116021	96986512	P51003	PAPOA_HUMAN	0		COAD - Colon adenocarcinoma(157;0.213)	2	339	+	G	G		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	Missense_Mutation	43						
PAPOLA	0	broad.mit.edu	GRCh37	14	96991694	96991694	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-27-1838-01	TCGA-27-1838-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216277.8:c.297A>G	p.Thr99=	p.T99=	ENST00000216277	NM_032632.4	99	acA/acG	0			1			G	T	uc001yfq.2	protein_coding	YES	CCDS9946.1			297/2238										0	c.(295-297)ACA>ACG			Pfam_domain:PF01909,Pfam_domain:PF04928,PIRSF_domain:PIRSF018425,hmmpanther:PTHR10682,hmmpanther:PTHR10682:SF9,Superfamily_domains:SSF81301	poly(A) polymerase alpha				ENSP00000216277		22-Apr									COSM3401573,COSM3401574	22-Apr	.		ENST00000216277	Transcript			mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	ENSG00000090060	g.chr14:96991694A>G	14981			LOW								--	--	1																																		PAPOLA_uc001yfo.2_Silent_p.T99T|PAPOLA_uc001yfp.2_Silent_p.T99T|PAPOLA_uc001yfr.2_Silent_p.T99T|PAPOLA_uc010twv.1_Silent_p.T99T|PAPOLA_uc010avp.2_5'UTR	1,1	1			p.T99T	NM_032632	NP_116021			1,1	PAPOA_HUMAN	PAPOLA	HGNC	P51003	PAPOA_HUMAN		COAD - Colon adenocarcinoma(157;0.213)	G3V2A0_HUMAN,B7ZA53_HUMAN,B4DZL2_HUMAN		4	507	+		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	UPI0000074269	99					SNV	PAPOLA,synonymous_variant,p.=,ENST00000216277,NM_032632.4;PAPOLA,synonymous_variant,p.=,ENST00000557320,NM_001252007.1,NM_001252006.1;PAPOLA,synonymous_variant,p.=,ENST00000392990,;PAPOLA,synonymous_variant,p.=,ENST00000557471,;PAPOLA,synonymous_variant,p.=,ENST00000556619,;PAPOLA,5_prime_UTR_variant,,ENST00000555626,;PAPOLA,upstream_gene_variant,,ENST00000553461,;PAPOLA,non_coding_transcript_exon_variant,,ENST00000554887,;PAPOLA,intron_variant,,ENST00000554130,;PAPOLA,downstream_gene_variant,,ENST00000556248,;PAPOLA,synonymous_variant,p.=,ENST00000553689,;PAPOLA,3_prime_UTR_variant,,ENST00000553357,;PAPOLA,non_coding_transcript_exon_variant,,ENST00000555224,;PAPOLA,non_coding_transcript_exon_variant,,ENST00000557406,;PAPOLA,upstream_gene_variant,,ENST00000555912,;	uc001yfq.2	c.297A>G	517/4519	3	3			c.297A>G						14	SNP	c.(295-297)ACA>ACG	60	60				0	Broad	poly(A) polymerase alpha			96991694		0.323	ENSG00000090060	11238	g.chr14:96991694A>G	mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	NSCLC(19;254 734 11908 35501 39234)			NSCLC(19;254 734 11908 35501 39234)			104.880187	KEEP	19	20	-1	46	56	19	20	-1	109.847263	46	56	0.286885	1	0	0	0	0	0	0	1	0	--	--		0	G			PAPOLA_uc001yfo.2_Silent_p.T99T|PAPOLA_uc001yfp.2_Silent_p.T99T|PAPOLA_uc001yfr.2_Silent_p.T99T|PAPOLA_uc010twv.1_Silent_p.T99T|PAPOLA_uc010avp.2_5'UTR	197	GBM-27-1838-TP	p.T99T	A	AAATTTTTACATTTGGATCTT	NM_032632	NP_116021	96991694	P51003	PAPOA_HUMAN	0		COAD - Colon adenocarcinoma(157;0.213)	4	507	+	G	G		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	Silent	99						
PAPOLB	56903	broad.mit.edu	GRCh37	7	4900644	4900644	+	synonymous_variant	Silent	SNP	C	C	T	rs112213840		TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000404991.1:c.795G>A	p.Ala265=	p.A265=	ENST00000404991	NM_020144.4	265	gcG/gcA	0	T:0.0005		1			T	A	uc003snk.2	protein_coding	YES				795/1911									ovary(1)	1	c.(796-798)GCG>GCA			Gene3D:2q66A01,Pfam_domain:PF04928,PIRSF_domain:PIRSF018425,hmmpanther:PTHR10682,hmmpanther:PTHR10682:SF19,Superfamily_domains:SSF81631	poly(A) polymerase beta (testis specific)			T:0	ENSP00000384700		1-Jan	6.59E-05	0.000199		0.000347	0.000151	1.50E-05	0.0011		rs112213840,COSM3412136,COSM3412135	1-Jan	.		ENST00000404991	Transcript			mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	ENSG00000218823	g.chr7:4900644C>T	15970			LOW								--	--	1																																		RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	0,1,1	1			p.A266A	NM_020144	NP_064529			0,1,1	PAPOB_HUMAN	PAPOLB	HGNC	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	A4D1Z6_HUMAN		1	982	-		Ovarian(82;0.0175)	UPI0000131304	265					SNV	PAPOLB,synonymous_variant,p.=,ENST00000404991,NM_020144.4;RADIL,intron_variant,,ENST00000399583,NM_018059.4;RADIL,intron_variant,,ENST00000536091,;RADIL,intron_variant,,ENST00000445392,;AC092610.12,downstream_gene_variant,,ENST00000454916,;	uc003snk.2	c.798G>A	982/4262	2	2			c.798G>A						7	SNP	c.(796-798)GCG>GCA	34	34			ovary(1)	1	Broad	poly(A) polymerase beta (testis specific)			4900644		0.428	ENSG00000218823	11239	g.chr7:4900644C>T	mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding							377.935132	KEEP	51	81	-1	73	112	51	81	-1	378.97662	73	112	0.434629	1	0	0	0	0	0	0	1	0	--	--		0	T			RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	102	GBM-06-5858-TP	p.A266A	C	CAAGAGTTGACGCTACTGCAT	NM_020144	NP_064529	4900644	Q9NRJ5	PAPOB_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	982	-	T	T		Ovarian(82;0.0175)	Silent	265						
PAPPA	0	broad.mit.edu	GRCh37	9	118997909	118997909	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2523-01	TCGA-27-2523-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328252.3:c.2725G>A	p.Val909Ile	p.V909I	ENST00000328252	NM_002581.3	909	Gta/Ata	0			1			A	V/I	uc004bjn.2	protein_coding	YES	CCDS6813.1			2725/4884									ovary(4)|skin(4)|pancreas(1)	9	c.(2725-2727)GTA>ATA			hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF347	pregnancy-associated plasma protein A				ENSP00000330658		22-Jul	4.12E-05	9.71E-05	8.64E-05		0.000151	1.51E-05		6.07E-05	rs199874720,COSM3321622	22-Jul	.		ENST00000328252	Transcript			cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	ENSG00000182752	g.chr9:118997909G>A	8602			MODERATE		-0.35	neutral	getma.org/?cm=msa&ty=f&p=PAPP1_HUMAN&rb=861&re=1060&var=V909I	NA	getma.org/?cm=var&var=hg19,9,118997909,G,A&fts=all	V909I	--	--	1																																		PAPPA_uc011lxp.1_Missense_Mutation_p.V604I|PAPPA_uc011lxq.1_Intron	0,1	1		benign(0.002)	p.V909I	NM_002581	NP_002572		tolerated(0.44)	0,1	PAPP1_HUMAN	PAPPA	HGNC	Q13219	PAPP1_HUMAN			Q5QFB7_HUMAN,F5GZ19_HUMAN		7	3106	+			UPI00001E0589	909					SNV	PAPPA,missense_variant,p.Val909Ile,ENST00000328252,NM_002581.3;PAPPA,intron_variant,,ENST00000534838,;	uc004bjn.2	c.2725G>A	3094/10959	2	2			c.2725G>A						9	SNP	c.(2725-2727)GTA>ATA	45	45			ovary(4)|skin(4)|pancreas(1)	9	Broad	pregnancy-associated plasma protein A			118997909		0.517	ENSG00000182752	11241	g.chr9:118997909G>A	cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding		p.V909I(RKO-Tumor)	611		p.V909I(RKO-Tumor)	611	364.686095	KEEP	70	68	-1	88	98	70	68	-1	365.847982	88	98	0.431579	1	0	0	0	0	1	0	0	0	--	--		0	A			PAPPA_uc011lxp.1_Missense_Mutation_p.V604I|PAPPA_uc011lxq.1_Intron	201	GBM-27-2523-TP	p.V909I	G	TAGGAAATTCGTAGACATGTA	NM_002581	NP_002572	118997909	Q13219	PAPP1_HUMAN	0			7	3106	+	A	A			Missense_Mutation	909						
PAPPA	0	broad.mit.edu	GRCh37	9	118949533	118949533	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs141909455		TCGA-32-2632-01	TCGA-32-2632-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328252.3:c.516C>G	p.Phe172Leu	p.F172L	ENST00000328252	NM_002581.3	172	ttC/ttG	0			1			G	F/L	uc004bjn.2	protein_coding	YES	CCDS6813.1			516/4884									ovary(4)|skin(4)|pancreas(1)	9	c.(514-516)TTC>TTG			hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF347,Gene3D:2.60.120.200,Pfam_domain:PF13385,SMART_domains:SM00560,Superfamily_domains:SSF49899	pregnancy-associated plasma protein A				ENSP00000330658		22-Feb									COSM3413298	22-Feb	.		ENST00000328252	Transcript			cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	ENSG00000182752	g.chr9:118949533C>G	8602			MODERATE		2.025	medium	getma.org/?cm=msa&ty=f&p=PAPP1_HUMAN&rb=95&re=269&var=F172L	NA	getma.org/?cm=var&var=hg19,9,118949533,C,G&fts=all	F172L	--	--	1																																		PAPPA_uc011lxp.1_5'UTR|PAPPA_uc011lxq.1_5'UTR	1	1		benign(0.418)	p.F172L	NM_002581	NP_002572		deleterious(0)	1	PAPP1_HUMAN	PAPPA	HGNC	Q13219	PAPP1_HUMAN			Q5QFB7_HUMAN,F5GZ19_HUMAN		2	897	+			UPI00001E0589	172					SNV	PAPPA,missense_variant,p.Phe172Leu,ENST00000328252,NM_002581.3;PAPPA,upstream_gene_variant,,ENST00000534838,;	uc004bjn.2	c.516C>G	885/10959	4	4			c.516C>G						9	SNP	c.(514-516)TTC>TTG	20	20			ovary(4)|skin(4)|pancreas(1)	9	Broad	pregnancy-associated plasma protein A			118949533		0.537	ENSG00000182752	11241	g.chr9:118949533C>G	cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			611			611	-14.058542	KEEP	2	1	-1	38	54	2	1	-1	7.035868	38	54	0.033708	1	0	0	0	0	1	0	0	0	--	--		0	G			PAPPA_uc011lxp.1_5'UTR|PAPPA_uc011lxq.1_5'UTR	240	GBM-32-2632-TP	p.F172L	C	GCTACTTTTTCTCCTTGAAGA	NM_002581	NP_002572	118949533	Q13219	PAPP1_HUMAN	0			2	897	+	G	G			Missense_Mutation	172						
PAPPA	5069		GRCh37	9	118982397	118982397	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000328252.3:c.2100T>C	p.His700=	p.H700=	ENST00000328252	NM_002581.3	700	caT/caC	0																																																																																																																																																																																																																																												
PAPPA2	60676	broad.mit.edu	GRCh37	1	176661413	176661413	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0882-01	TCGA-06-0882-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367662.3:c.2583T>C	p.Thr861=	p.T861=	ENST00000367662	NM_020318.2	861	acT/acC	0			1			C	T	uc001gkz.2	protein_coding	YES	CCDS41438.1			2583/5376									ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16	c.(2581-2583)ACT>ACC			Gene3D:2.60.40.10,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF349,Superfamily_domains:SSF49265	pappalysin 2 isoform 1				ENSP00000356634		23-Jun									COSM2152376	23-Jun	.		ENST00000367662	Transcript			cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	ENSG00000116183	g.chr1:176661413T>C	14615			LOW								--	--	1																																		PAPPA2_uc009www.2_RNA	1	1			p.T861T	NM_020318	NP_064714			1	PAPP2_HUMAN	PAPPA2	HGNC	Q9BXP8	PAPP2_HUMAN					6	3747	+			UPI000004A835	861					SNV	PAPPA2,synonymous_variant,p.=,ENST00000367662,NM_020318.2;PAPPA2,downstream_gene_variant,,ENST00000367661,NM_021936.2;	uc001gkz.2	c.2583T>C	3747/9685	3	3			c.2583T>C						1	SNP	c.(2581-2583)ACT>ACC	54	54			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16	Broad	pappalysin 2 isoform 1			176661413		0.502	ENSG00000116183	11242	g.chr1:176661413T>C	cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding							110.70838	KEEP	33	38	-1	89	119	33	38	-1	119.466507	89	119	0.246667	1	0	0	0	0	0	0	1	0	--	--		0	C			PAPPA2_uc009www.2_RNA	77	GBM-06-0882-TP	p.T861T	T	AGTCCCTCACTATCCACTGGC	NM_020318	NP_064714	176661413	Q9BXP8	PAPP2_HUMAN	0			6	3747	+	C	C			Silent	861						
PAPPA2	60676	broad.mit.edu	GRCh37	1	176563773	176563773	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01	TCGA-06-0939-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367662.3:c.1033G>A	p.Asp345Asn	p.D345N	ENST00000367662	NM_020318.2	345	Gac/Aac	0			1			A	D/N	uc001gkz.2	protein_coding	YES	CCDS41438.1			1033/5376									ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16	c.(1033-1035)GAC>AAC			Gene3D:2.60.120.200,Pfam_domain:PF13385,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF349,SMART_domains:SM00560,Superfamily_domains:SSF49899	pappalysin 2 isoform 1				ENSP00000356634		23-Mar	8.26E-06							6.06E-05	rs774370341,COSM2093835,COSM2093836	23-Mar	.		ENST00000367662	Transcript			cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	ENSG00000116183	g.chr1:176563773G>A	14615			MODERATE		1.975	medium	getma.org/?cm=msa&ty=f&p=PAPP2_HUMAN&rb=262&re=439&var=D345N	NA	getma.org/?cm=var&var=hg19,1,176563773,G,A&fts=all	D345N	--	--	1																																		PAPPA2_uc001gky.1_Missense_Mutation_p.D345N|PAPPA2_uc009www.2_RNA	0,1,1	1		probably_damaging(0.995)	p.D345N	NM_020318	NP_064714		deleterious(0)	0,1,1	PAPP2_HUMAN	PAPPA2	HGNC	Q9BXP8	PAPP2_HUMAN					3	2197	+			UPI000004A835	345					SNV	PAPPA2,missense_variant,p.Asp345Asn,ENST00000367662,NM_020318.2;PAPPA2,missense_variant,p.Asp345Asn,ENST00000367661,NM_021936.2;	uc001gkz.2	c.1033G>A	2197/9685	1	1			c.1033G>A						1	SNP	c.(1033-1035)GAC>AAC	59	59			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16	Broad	pappalysin 2 isoform 1			176563773		0.592	ENSG00000116183	11242	g.chr1:176563773G>A	cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding							98.498511	KEEP	15	21	-1	29	34	15	21	-1	99.944768	29	34	0.368421	1	0	0	0	0	1	0	0	0	--	--		0	A			PAPPA2_uc001gky.1_Missense_Mutation_p.D345N|PAPPA2_uc009www.2_RNA	78	GBM-06-0939-TP	p.D345N	G	CCTCTGCACCGACCGCGTGAA	NM_020318	NP_064714	176563773	Q9BXP8	PAPP2_HUMAN	0			3	2197	+	A	A			Missense_Mutation	345						
PAPPA2	0	broad.mit.edu	GRCh37	1	176526282	176526282	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01	TCGA-14-0813-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367662.3:c.824G>A	p.Arg275His	p.R275H	ENST00000367662	NM_020318.2	275	cGt/cAt	0			1			A	R/H	uc001gkz.2	protein_coding	YES	CCDS41438.1			824/5376									ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16	c.(823-825)CGT>CAT			Gene3D:2.60.120.200,Pfam_domain:PF13385,Low_complexity_(Seg):seg,Superfamily_domains:SSF49899	pappalysin 2 isoform 1				ENSP00000356634		23-Feb	8.27E-06		8.88E-05						rs548559188,COSM3400015,COSM3400016	23-Feb	.		ENST00000367662	Transcript			cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	ENSG00000116183	g.chr1:176526282G>A	14615			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=PAPP2_HUMAN&rb=262&re=439&var=R275H	NA	getma.org/?cm=var&var=hg19,1,176526282,G,A&fts=all	R275H	--	--	1																																		PAPPA2_uc001gky.1_Missense_Mutation_p.R275H|PAPPA2_uc009www.2_RNA	0,1,1	1		benign(0.235)	p.R275H	NM_020318	NP_064714		tolerated(0.07)	0,1,1	PAPP2_HUMAN	PAPPA2	HGNC	Q9BXP8	PAPP2_HUMAN					2	1988	+			UPI000004A835	275					SNV	PAPPA2,missense_variant,p.Arg275His,ENST00000367662,NM_020318.2;PAPPA2,missense_variant,p.Arg275His,ENST00000367661,NM_021936.2;PAPPA2,downstream_gene_variant,,ENST00000486075,;PAPPA2,downstream_gene_variant,,ENST00000493665,;	uc001gkz.2	c.824G>A	1988/9685	1	1			c.824G>A						1	SNP	c.(823-825)CGT>CAT	57	57			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16	Broad	pappalysin 2 isoform 1			176526282		0.577	ENSG00000116183	11242	g.chr1:176526282G>A	cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding							12.425442	KEEP	5	8	-1	36	37	5	8	-1	21.117787	36	37	0.134328	1	0	0	0	0	1	0	0	0	--	--		0	A			PAPPA2_uc001gky.1_Missense_Mutation_p.R275H|PAPPA2_uc009www.2_RNA	138	GBM-14-0813-TP	p.R275H	G	CTGCTGCTGCGTCCAGAAGTG	NM_020318	NP_064714	176526282	Q9BXP8	PAPP2_HUMAN	0			2	1988	+	A	A			Missense_Mutation	275						
PAPPA2	0	broad.mit.edu	GRCh37	1	176734853	176734853	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-19-5955-01	TCGA-19-5955-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367662.3:c.4203T>C	p.Leu1401=	p.L1401=	ENST00000367662	NM_020318.2	1401	ctT/ctC	0			1			C	L	uc001gkz.2	protein_coding	YES	CCDS41438.1			4203/5376									ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16	c.(4201-4203)CTT>CTC			hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF349,SMART_domains:SM00032	pappalysin 2 isoform 1				ENSP00000356634		15/23									COSM3400019	15/23	.		ENST00000367662	Transcript			cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	ENSG00000116183	g.chr1:176734853T>C	14615			LOW								--	--	1																																		PAPPA2_uc009www.2_RNA	1	1			p.L1401L	NM_020318	NP_064714			1	PAPP2_HUMAN	PAPPA2	HGNC	Q9BXP8	PAPP2_HUMAN					15	5367	+			UPI000004A835	1401			Sushi 1.		SNV	PAPPA2,synonymous_variant,p.=,ENST00000367662,NM_020318.2;	uc001gkz.2	c.4203T>C	5367/9685	3	3			c.4203T>C						1	SNP	c.(4201-4203)CTT>CTC	7	7			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16	Broad	pappalysin 2 isoform 1			176734853		0.507	ENSG00000116183	11242	g.chr1:176734853T>C	cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding							-25.491514	KEEP	5	2	-1	90	80	5	2	-1	11.286292	90	80	0.037736	1	0	0	0	0	0	0	1	0	--	--		0	C			PAPPA2_uc009www.2_RNA	175	GBM-19-5955-TP	p.L1401L	T	CATTGCTGCTTGATCATGCTG	NM_020318	NP_064714	176734853	Q9BXP8	PAPP2_HUMAN	0			15	5367	+	C	C			Silent	1401			Sushi 1.			
PAPPA2	60676		GRCh37	1	176563936	176563936	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000367662.3:c.1196T>C	p.Phe399Ser	p.F399S	ENST00000367662	NM_020318.2	399	tTc/tCc	0																																																																																																																																																																																																																																												
PAQR4	124222	broad.mit.edu	GRCh37	16	3021597	3021597	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0686-01	TCGA-06-0686-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318782.8:c.470C>T	p.Ser157Leu	p.S157L	ENST00000318782	NM_152341.3	157	tCg/tTg	0	T:0.0002		1			T	S/L	uc002csj.3	protein_coding	YES	CCDS10485.1			470/822										0	c.(469-471)TCG>TTG			Pfam_domain:PF03006,hmmpanther:PTHR20855,hmmpanther:PTHR20855:SF30	progestin and adipoQ receptor family member IV			T:0	ENSP00000321804		3-Mar	7.44E-05	0.000111		0.000239		4.81E-05		0.000184	rs367647268,COSM2151578	3-Mar	.		ENST00000318782	Transcript				integral to membrane	receptor activity	ENSG00000162073	g.chr16:3021597C>T	26386			MODERATE		2.02	medium	getma.org/?cm=msa&ty=f&p=PAQR4_HUMAN&rb=43&re=254&var=S157L	NA	getma.org/?cm=var&var=hg19,16,3021597,C,T&fts=all	S157L	--	--	1																																		PAQR4_uc002csk.3_Missense_Mutation_p.S118L|PAQR4_uc002csl.3_Missense_Mutation_p.S83L|PAQR4_uc010uwm.1_Missense_Mutation_p.S88L	0,1	1		possibly_damaging(0.816)	p.S157L	NM_152341	NP_689554		deleterious(0)	0,1	PAQR4_HUMAN	PAQR4	HGNC	Q8N4S7	PAQR4_HUMAN			I3L1A2_HUMAN		3	804	+			UPI0000072F38	157			Helical; (Potential).		SNV	PAQR4,missense_variant,p.Ser157Leu,ENST00000318782,NM_152341.3,NM_001284513.1;PAQR4,missense_variant,p.Ser118Leu,ENST00000293978,NM_001284511.1;PAQR4,missense_variant,p.Ser83Leu,ENST00000572687,NM_001284512.1;PAQR4,missense_variant,p.Ser90Leu,ENST00000574988,;PAQR4,missense_variant,p.Ser90Leu,ENST00000576565,;PKMYT1,intron_variant,,ENST00000431515,;KREMEN2,downstream_gene_variant,,ENST00000572045,NM_172229.2;KREMEN2,downstream_gene_variant,,ENST00000303746,;PKMYT1,downstream_gene_variant,,ENST00000262300,NM_001258450.1,NM_004203.4,NM_182687.2;PKMYT1,downstream_gene_variant,,ENST00000440027,;KREMEN2,downstream_gene_variant,,ENST00000575769,;PKMYT1,downstream_gene_variant,,ENST00000574385,NM_001258451.1;PKMYT1,downstream_gene_variant,,ENST00000573944,;KREMEN2,downstream_gene_variant,,ENST00000319500,NM_024507.3;KREMEN2,downstream_gene_variant,,ENST00000571007,NM_001253726.1;PKMYT1,downstream_gene_variant,,ENST00000574730,;KREMEN2,downstream_gene_variant,,ENST00000575885,NM_001253725.1;PKMYT1,downstream_gene_variant,,ENST00000576268,;PKMYT1,downstream_gene_variant,,ENST00000574415,;PKMYT1,downstream_gene_variant,,ENST00000575632,;PKMYT1,downstream_gene_variant,,ENST00000572059,;PKMYT1,downstream_gene_variant,,ENST00000575040,;PKMYT1,upstream_gene_variant,,ENST00000571102,;PKMYT1,downstream_gene_variant,,ENST00000574333,;PKMYT1,upstream_gene_variant,,ENST00000572832,;PKMYT1,downstream_gene_variant,,ENST00000382240,;PKMYT1,downstream_gene_variant,,ENST00000575981,;PKMYT1,downstream_gene_variant,,ENST00000574680,;	uc002csj.3	c.470C>T	900/2793	2	2			c.470C>T						16	SNP	c.(469-471)TCG>TTG	47	47				0	Broad	progestin and adipoQ receptor family member IV			3021597		0.687	ENSG00000162073	11246	g.chr16:3021597C>T		integral to membrane	receptor activity							173.320151	KEEP	46	27	-1	66	36	46	27	-1	174.178137	66	36	0.416667	1	0	0	0	0	1	0	0	0	--	--		0	T			PAQR4_uc002csk.3_Missense_Mutation_p.S118L|PAQR4_uc002csl.3_Missense_Mutation_p.S83L|PAQR4_uc010uwm.1_Missense_Mutation_p.S88L	64	GBM-06-0686-TP	p.S157L	C	ACTGTGTTGTCGGGTGTGGCC	NM_152341	NP_689554	3021597	Q8N4S7	PAQR4_HUMAN	0			3	804	+	T	T			Missense_Mutation	157			Helical; (Potential).			
PAQR4	0	broad.mit.edu	GRCh37	16	3021625	3021625	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-14-0789-01	TCGA-14-0789-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318782.8:c.498C>A	p.Thr166=	p.T166=	ENST00000318782	NM_152341.3	166	acC/acA	0			1			A	T	uc002csj.3	protein_coding	YES	CCDS10485.1			498/822										0	c.(496-498)ACC>ACA			Pfam_domain:PF03006,hmmpanther:PTHR20855,hmmpanther:PTHR20855:SF30	progestin and adipoQ receptor family member IV				ENSP00000321804		3-Mar									COSM3402267	3-Mar	.		ENST00000318782	Transcript				integral to membrane	receptor activity	ENSG00000162073	g.chr16:3021625C>A	26386			LOW								--	--	1																																		PAQR4_uc002csk.3_Silent_p.T127T|PAQR4_uc002csl.3_Silent_p.T92T|PAQR4_uc010uwm.1_Silent_p.T97T	1	1			p.T166T	NM_152341	NP_689554			1	PAQR4_HUMAN	PAQR4	HGNC	Q8N4S7	PAQR4_HUMAN			I3L1A2_HUMAN		3	832	+			UPI0000072F38	166			Helical; (Potential).		SNV	PAQR4,synonymous_variant,p.=,ENST00000318782,NM_152341.3,NM_001284513.1;PAQR4,synonymous_variant,p.=,ENST00000293978,NM_001284511.1;PAQR4,synonymous_variant,p.=,ENST00000572687,NM_001284512.1;PAQR4,synonymous_variant,p.=,ENST00000574988,;PAQR4,synonymous_variant,p.=,ENST00000576565,;PKMYT1,intron_variant,,ENST00000431515,;KREMEN2,downstream_gene_variant,,ENST00000572045,NM_172229.2;KREMEN2,downstream_gene_variant,,ENST00000303746,;PKMYT1,downstream_gene_variant,,ENST00000262300,NM_001258450.1,NM_004203.4,NM_182687.2;PKMYT1,downstream_gene_variant,,ENST00000440027,;KREMEN2,downstream_gene_variant,,ENST00000575769,;PKMYT1,downstream_gene_variant,,ENST00000574385,NM_001258451.1;PKMYT1,downstream_gene_variant,,ENST00000573944,;KREMEN2,downstream_gene_variant,,ENST00000319500,NM_024507.3;KREMEN2,downstream_gene_variant,,ENST00000571007,NM_001253726.1;PKMYT1,downstream_gene_variant,,ENST00000574730,;KREMEN2,downstream_gene_variant,,ENST00000575885,NM_001253725.1;PKMYT1,downstream_gene_variant,,ENST00000576268,;PKMYT1,downstream_gene_variant,,ENST00000574415,;PKMYT1,downstream_gene_variant,,ENST00000575632,;PKMYT1,downstream_gene_variant,,ENST00000572059,;PKMYT1,downstream_gene_variant,,ENST00000575040,;PKMYT1,upstream_gene_variant,,ENST00000571102,;PKMYT1,downstream_gene_variant,,ENST00000574333,;PKMYT1,upstream_gene_variant,,ENST00000572832,;PKMYT1,downstream_gene_variant,,ENST00000382240,;PKMYT1,downstream_gene_variant,,ENST00000575981,;PKMYT1,downstream_gene_variant,,ENST00000574680,;	uc002csj.3	c.498C>A	928/2793	2	2			c.498C>A						16	SNP	c.(496-498)ACC>ACA	48	48				0	Broad	progestin and adipoQ receptor family member IV			3021625		0.697	ENSG00000162073	11246	g.chr16:3021625C>A		integral to membrane	receptor activity							-28.329375	KEEP	2	2	0.5	79	84	2	2	0.5	7.844058	79	84	0.027211	1	0	0	0	0	0	0	1	0	--	--		0	A			PAQR4_uc002csk.3_Silent_p.T127T|PAQR4_uc002csl.3_Silent_p.T92T|PAQR4_uc010uwm.1_Silent_p.T97T	136	GBM-14-0789-TP	p.T166T	C	GTGCTCTCACCGCCCCCTCCA	NM_152341	NP_689554	3021625	Q8N4S7	PAQR4_HUMAN	0			3	832	+	A	A			Silent	166			Helical; (Potential).			
PAQR5	54852		GRCh37	15	69652448	69652448	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0240-01	TCGA-06-0240-01																				ENST00000340965.3:c.29T>C	p.Phe10Ser	p.F10S	ENST00000340965	NM_001104554.1	10	tTt/tCt	0																																																																																																																																																																																																																																												
PARD3B	0	broad.mit.edu	GRCh37	2	205986432	205986432	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-19-2624-01	TCGA-19-2624-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000406610.2:c.924T>C	p.Gly308=	p.G308=	ENST00000406610	NM_205863.3	308	ggT/ggC	0			1			C	G	uc002var.1	protein_coding					924/3618									skin(2)|ovary(1)|breast(1)	4	c.(922-924)GGT>GGC			hmmpanther:PTHR16484,hmmpanther:PTHR16484:SF9	par-3 partitioning defective 3 homolog B isoform				ENSP00000385848		23-Aug									COSM2156217,COSM2156216,COSM2156215	23-Aug	.		ENST00000406610	Transcript			cell cycle|cell division	endomembrane system|tight junction		ENSG00000116117	g.chr2:205986432T>C	14446			LOW								--	--	1																																		PARD3B_uc010fub.1_Silent_p.G308G|PARD3B_uc002vao.1_Silent_p.G308G|PARD3B_uc002vap.1_Silent_p.G308G|PARD3B_uc002vaq.1_Silent_p.G308G	1,1,1				p.G308G	NM_152526	NP_689739			1,1,1	PAR3L_HUMAN	PARD3B	HGNC	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	Q587I4_HUMAN,Q53TQ6_HUMAN,Q53TP8_HUMAN,Q53TL6_HUMAN,Q53TI4_HUMAN,Q53T65_HUMAN,Q53SN0_HUMAN,Q4ZG80_HUMAN		8	1131	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	UPI0000070178	308					SNV	PARD3B,synonymous_variant,p.=,ENST00000406610,NM_205863.3,NM_057177.6,NM_152526.5;PARD3B,synonymous_variant,p.=,ENST00000358768,;PARD3B,synonymous_variant,p.=,ENST00000351153,;PARD3B,synonymous_variant,p.=,ENST00000349953,;PARD3B,synonymous_variant,p.=,ENST00000462231,;PARD3B,downstream_gene_variant,,ENST00000489565,;	uc002var.1	c.924T>C	1131/8174	3	3			c.924T>C						2	SNP	c.(922-924)GGT>GGC	12	12			skin(2)|ovary(1)|breast(1)	4	Broad	par-3 partitioning defective 3 homolog B isoform			205986432		0.453	ENSG00000116117	11253	g.chr2:205986432T>C	cell cycle|cell division	endomembrane system|tight junction								214.983695	KEEP	27	38	-1	43	45	27	38	-1	215.60523	43	45	0.428571	1	0	0	0	0	0	0	1	0	--	--		0	C			PARD3B_uc010fub.1_Silent_p.G308G|PARD3B_uc002vao.1_Silent_p.G308G|PARD3B_uc002vap.1_Silent_p.G308G|PARD3B_uc002vaq.1_Silent_p.G308G	164	GBM-19-2624-TP	p.G308G	T	ACATTTTTGGTAATAATGATG	NM_152526	NP_689739	205986432	Q8TEW8	PAR3L_HUMAN	0		Epithelial(149;0.0739)	8	1131	+	C	C		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	Silent	308						
PARD6B	84612	broad.mit.edu	GRCh37	20	49366649	49366649	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01	TCGA-06-0173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371610.2:c.743C>T	p.Pro248Leu	p.P248L	ENST00000371610	NM_032521.2	248	cCg/cTg	0			1			T	P/L	uc002xvo.2	protein_coding	YES	CCDS33485.1			743/1119									kidney(1)	1	c.(742-744)CCG>CTG			Gene3D:2.30.42.10,PROSITE_profiles:PS50106,hmmpanther:PTHR14102,hmmpanther:PTHR14102:SF4,SMART_domains:SM00228,Superfamily_domains:SSF50156	PAR-6 beta				ENSP00000360672		3-Mar	8.24E-06			0.000116					rs763915421,COSM2150398	3-Mar	.		ENST00000371610	Transcript			axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding	ENSG00000124171	g.chr20:49366649C>T	16245			MODERATE		3.595	high	getma.org/?cm=msa&ty=f&p=PAR6B_HUMAN&rb=157&re=250&var=P248L	getma.org/pdb.php?prot=PAR6B_HUMAN&from=157&to=250&var=P248L	getma.org/?cm=var&var=hg19,20,49366649,C,T&fts=all	P248L	--	--	1																																			0,1	1		probably_damaging(1)	p.P248L	NM_032521	NP_115910		deleterious(0)	0,1	PAR6B_HUMAN	PARD6B	HGNC	Q9BYG5	PAR6B_HUMAN					3	986	+			UPI000006FA7C	248			PDZ.|Interaction with PARD3 and CDC42 (By similarity).		SNV	PARD6B,missense_variant,p.Pro248Leu,ENST00000371610,NM_032521.2;PARD6B,intron_variant,,ENST00000396039,;	uc002xvo.2	c.743C>T	986/4615	1	1			c.743C>T						20	SNP	c.(742-744)CCG>CTG	9	9			kidney(1)	1	Broad	PAR-6 beta			49366649		0.443	ENSG00000124171	11255	g.chr20:49366649C>T	axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding							173.740067	KEEP	30	37	-1	93	101	30	37	-1	186.952244	93	101	0.255144	1	0	0	0	0	1	0	0	0	--	--		0	T				36	GBM-06-0173-TP	p.P248L	C	ACAGTGAGACCGGCAAACCAG	NM_032521	NP_115910	49366649	Q9BYG5	PAR6B_HUMAN	0			3	986	+	T	T			Missense_Mutation	248			PDZ.|Interaction with PARD3 and CDC42 (By similarity).			
PARK2			GRCh37	6	161771139	161771139	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000366898.1:c.1390G>A	p.Asp464Asn	p.D464N	ENST00000366898	NM_004562.2	464	Gac/Aac	0																																																																																																																																																																																																																																												
PARN	5073	broad.mit.edu	GRCh37	16	14704541	14704541	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01	TCGA-02-2483-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000437198.2:c.514A>G	p.Thr172Ala	p.T172A	ENST00000437198	NM_002582.3	172	Acg/Gcg	0			1			C	T/A	uc010uzd.1	protein_coding	YES	CCDS45419.1			514/1920									ovary(2)	2	c.(514-516)ACG>GCG			Gene3D:3.30.1370.50,Pfam_domain:PF04857,hmmpanther:PTHR15092,hmmpanther:PTHR15092:SF21,Superfamily_domains:SSF82708	poly(A)-specific ribonuclease (deadenylation				ENSP00000387911		24-Jul									COSM3402088,COSM3402089	24-Jul	.		ENST00000437198	Transcript	1		female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding	ENSG00000140694	g.chr16:14704541T>C	8609			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=PARN_HUMAN&rb=1&re=392&var=T172A	getma.org/pdb.php?prot=PARN_HUMAN&from=1&to=392&var=T172A	getma.org/?cm=var&var=hg19,16,14704541,T,C&fts=all	T172A	--	--	1																																		PARN_uc010uzc.1_Missense_Mutation_p.T111A|PARN_uc010uze.1_Missense_Mutation_p.T126A|PARN_uc010uzf.1_Intron|PARN_uc010uzg.1_RNA	1,1	1		benign(0.001)	p.T172A	NM_002582	NP_002573		tolerated(0.78)	1,1	PARN_HUMAN	PARN	HGNC	O95453	PARN_HUMAN			B3KN69_HUMAN		7	656	-			UPI0000031F7A	172					SNV	PARN,missense_variant,p.Thr172Ala,ENST00000437198,NM_002582.3,NM_001134477.2;PARN,missense_variant,p.Thr126Ala,ENST00000420015,NM_001242992.1;PARN,missense_variant,p.Thr111Ala,ENST00000341484,;PARN,missense_variant,p.Thr21Ala,ENST00000569444,;PARN,intron_variant,,ENST00000539279,;PARN,non_coding_transcript_exon_variant,,ENST00000566021,;PARN,missense_variant,p.Thr155Ala,ENST00000538472,;PARN,3_prime_UTR_variant,,ENST00000563641,;PARN,non_coding_transcript_exon_variant,,ENST00000563155,;	uc010uzd.1	c.514A>G	656/3078	4	4			c.514A>G						16	SNP	c.(514-516)ACG>GCG	47	47			ovary(2)	2	Broad	poly(A)-specific ribonuclease (deadenylation			14704541		0.408	ENSG00000140694	11261	g.chr16:14704541T>C	female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding							-12.340422	KEEP	10	6	-1	115	125	10	6	-1	33.436801	115	125	0.061404	1	0	0	0	0	1	0	0	0	--	--		0	C			PARN_uc010uzc.1_Missense_Mutation_p.T111A|PARN_uc010uze.1_Missense_Mutation_p.T126A|PARN_uc010uzf.1_Intron|PARN_uc010uzg.1_RNA	6	GBM-02-2483-TP	p.T172A	T	TCAGGAATCGTGACAGGACAT	NM_002582	NP_002573	14704541	O95453	PARN_HUMAN	0			7	656	-	C	C			Missense_Mutation	172						
PARP1	0	broad.mit.edu	GRCh37	1	226550806	226550806	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366794.5:c.2842G>A	p.Val948Ile	p.V948I	ENST00000366794	NM_001618.3	948	Gtc/Atc	0			1			T	V/I	uc001hqd.3	protein_coding	YES	CCDS1554.1			2842/3045									lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	c.(2842-2844)GTC>ATC		Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA	PROSITE_profiles:PS51059,hmmpanther:PTHR15447:SF13,hmmpanther:PTHR15447,Gene3D:3.90.228.10,Pfam_domain:PF00644,PIRSF_domain:PIRSF000489,Superfamily_domains:SSF56399	poly (ADP-ribose) polymerase family, member 1				ENSP00000355759		21/23									COSM3400370	21/23	.		ENST00000366794	Transcript			cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	ENSG00000143799	g.chr1:226550806C>T	270			MODERATE		2.205	medium	getma.org/?cm=msa&ty=f&p=PARP1_HUMAN&rb=797&re=1007&var=V948I	getma.org/pdb.php?prot=PARP1_HUMAN&from=797&to=1007&var=V948I	getma.org/?cm=var&var=hg19,1,226550806,C,T&fts=all	V948I	--	--	1																																			1	1		benign(0.01)	p.V948I	NM_001618	NP_001609		deleterious(0.04)	1	PARP1_HUMAN	PARP1	HGNC	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	Q96P95_HUMAN		21	3013	-	Breast(184;0.133)		UPI000013D92D	948			PARP catalytic.		SNV	PARP1,missense_variant,p.Val948Ile,ENST00000366794,NM_001618.3;PARP1,non_coding_transcript_exon_variant,,ENST00000490921,;PARP1,non_coding_transcript_exon_variant,,ENST00000463968,;PARP1,non_coding_transcript_exon_variant,,ENST00000468608,;PARP1,downstream_gene_variant,,ENST00000498787,;PARP1,upstream_gene_variant,,ENST00000491816,;	uc001hqd.3	c.2842G>A	2986/3958	1	1			c.2842G>A						1	SNP	c.(2842-2844)GTC>ATC	4	4			lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	Broad	poly (ADP-ribose) polymerase family, member 1	Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA		226550806		0.527	ENSG00000143799	11262	g.chr1:226550806C>T	cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			1012			1012	-20.340388	KEEP	2	4	-1	73	66	2	4	-1	8.466448	73	66	0.039683	1	0	0	0	0	1	0	0	0	--	--		0	T				159	GBM-19-1390-TP	p.V948I	C	TTACCTTTGACACTGTGCTTG	NM_001618	NP_001609	226550806	P09874	PARP1_HUMAN	0		GBM - Glioblastoma multiforme(131;0.0531)	21	3013	-	T	T	Breast(184;0.133)		Missense_Mutation	948			PARP catalytic.			
PARP1	0	broad.mit.edu	GRCh37	1	226558164	226558164	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2615-01	TCGA-32-2615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366794.5:c.2125G>A	p.Ala709Thr	p.A709T	ENST00000366794	NM_001618.3	709	Gca/Aca	0			1			T	A/T	uc001hqd.3	protein_coding	YES	CCDS1554.1			2125/3045									lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	c.(2125-2127)GCA>ACA		Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA	PROSITE_profiles:PS51060,hmmpanther:PTHR15447:SF13,hmmpanther:PTHR15447,Gene3D:1.20.142.10,Pfam_domain:PF02877,PIRSF_domain:PIRSF000489,Superfamily_domains:SSF47587	poly (ADP-ribose) polymerase family, member 1				ENSP00000355759		15/23									rs758506201,COSM380795	15/23	.		ENST00000366794	Transcript			cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	ENSG00000143799	g.chr1:226558164C>T	270			MODERATE		3.375	medium	getma.org/?cm=msa&ty=f&p=PARP1_HUMAN&rb=662&re=795&var=A709T	getma.org/pdb.php?prot=PARP1_HUMAN&from=662&to=795&var=A709T	getma.org/?cm=var&var=hg19,1,226558164,C,T&fts=all	A709T	--	--	1																																			0,1	1		probably_damaging(0.998)	p.A709T	NM_001618	NP_001609		deleterious(0)	0,1	PARP1_HUMAN	PARP1	HGNC	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	Q96P95_HUMAN		15	2296	-	Breast(184;0.133)		UPI000013D92D	709			PARP alpha-helical.		SNV	PARP1,missense_variant,p.Ala709Thr,ENST00000366794,NM_001618.3;PARP1,non_coding_transcript_exon_variant,,ENST00000490921,;PARP1,non_coding_transcript_exon_variant,,ENST00000498787,;	uc001hqd.3	c.2125G>A	2269/3958	2	2			c.2125G>A						1	SNP	c.(2125-2127)GCA>ACA	35	35			lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	Broad	poly (ADP-ribose) polymerase family, member 1	Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA		226558164		0.597	ENSG00000143799	11262	g.chr1:226558164C>T	cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			1012			1012	-55.19975	KEEP	5	1	-1	154	122	5	1	-1	6.723483	154	122	0.017021	1	0	0	0	0	1	0	0	0	--	--		0	T				239	GBM-32-2615-TP	p.A709T	C	ATGGAGTATGCGGCCTGGATC	NM_001618	NP_001609	226558164	P09874	PARP1_HUMAN	0		GBM - Glioblastoma multiforme(131;0.0531)	15	2296	-	T	T	Breast(184;0.133)		Missense_Mutation	709			PARP alpha-helical.			
PARP12	64761	broad.mit.edu	GRCh37	7	139726106	139726106	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263549.3:c.1671G>A	p.Val557=	p.V557=	ENST00000263549	NM_022750.2	557	gtG/gtA	0			1			T	V	uc003vvl.1	protein_coding	YES	CCDS5857.1			1671/2106									ovary(3)	3	c.(1669-1671)GTG>GTA			Superfamily_domains:SSF56399,Pfam_domain:PF00644,Gene3D:3.90.228.10,hmmpanther:PTHR14453,hmmpanther:PTHR14453:SF15,PROSITE_profiles:PS51059	poly ADP-ribose polymerase 12				ENSP00000263549		12-Nov									COSM3411658	12-Nov	.		ENST00000263549	Transcript				nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	ENSG00000059378	g.chr7:139726106C>T	21919			LOW								--	--	1																																		PARP12_uc003vvk.1_Silent_p.V343V|PARP12_uc010lnf.1_RNA	1	1			p.V557V	NM_022750	NP_073587			1	PAR12_HUMAN	PARP12	HGNC	Q9H0J9	PAR12_HUMAN			A4D1T0_HUMAN		11	2545	-	Melanoma(164;0.0142)		UPI000006F644	557			PARP catalytic.		SNV	PARP12,missense_variant,p.Gly152Arg,ENST00000489809,;PARP12,synonymous_variant,p.=,ENST00000263549,NM_022750.2;PARP12,synonymous_variant,p.=,ENST00000484111,;PARP12,3_prime_UTR_variant,,ENST00000473341,;PARP12,3_prime_UTR_variant,,ENST00000491598,;PARP12,non_coding_transcript_exon_variant,,ENST00000488726,;PARP12,non_coding_transcript_exon_variant,,ENST00000496624,;PARP12,non_coding_transcript_exon_variant,,ENST00000489383,;PARP12,downstream_gene_variant,,ENST00000466597,;	uc003vvl.1	c.1671G>A	2545/3796	1	1			c.1671G>A						7	SNP	c.(1669-1671)GTG>GTA	11	11			ovary(3)	3	Broad	poly ADP-ribose polymerase 12			139726106		0.572	ENSG00000059378	11265	g.chr7:139726106C>T		nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding							28.272207	KEEP	13	16	-1	75	71	13	16	-1	42.82744	75	71	0.147541	1	0	0	0	0	0	0	1	0	--	--		0	T			PARP12_uc003vvk.1_Silent_p.V343V|PARP12_uc010lnf.1_RNA	5	GBM-02-2470-TP	p.V557V	C	GCCGCTCGTCCACGGCCTTCC	NM_022750	NP_073587	139726106	Q9H0J9	PAR12_HUMAN	0			11	2545	-	T	T	Melanoma(164;0.0142)		Silent	557			PARP catalytic.			
PARP12	0	broad.mit.edu	GRCh37	7	139727128	139727128	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-12-5295-01	TCGA-12-5295-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263549.3:c.1576G>T	p.Val526Phe	p.V526F	ENST00000263549	NM_022750.2	526	Gtt/Ttt	0			1			A	V/F	uc003vvl.1	protein_coding	YES	CCDS5857.1			1576/2106									ovary(3)	3	c.(1576-1578)GTT>TTT			Superfamily_domains:SSF56399,Pfam_domain:PF00644,Gene3D:3.90.228.10,hmmpanther:PTHR14453,hmmpanther:PTHR14453:SF15,PROSITE_profiles:PS51059	poly ADP-ribose polymerase 12				ENSP00000263549		12-Oct									COSM3411659	12-Oct	.		ENST00000263549	Transcript				nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	ENSG00000059378	g.chr7:139727128C>A	21919			MODERATE		2.485	medium	getma.org/?cm=msa&ty=f&p=PAR12_HUMAN&rb=497&re=679&var=V526F	getma.org/pdb.php?prot=PAR12_HUMAN&from=497&to=679&var=V526F	getma.org/?cm=var&var=hg19,7,139727128,C,A&fts=all	V526F	--	--	1																																		PARP12_uc003vvk.1_Missense_Mutation_p.V312F|PARP12_uc010lnf.1_RNA	1	1		possibly_damaging(0.824)	p.V526F	NM_022750	NP_073587		deleterious(0)	1	PAR12_HUMAN	PARP12	HGNC	Q9H0J9	PAR12_HUMAN			A4D1T0_HUMAN		10	2450	-	Melanoma(164;0.0142)		UPI000006F644	526			PARP catalytic.		SNV	PARP12,missense_variant,p.Val526Phe,ENST00000263549,NM_022750.2;PARP12,intron_variant,,ENST00000489809,;PARP12,upstream_gene_variant,,ENST00000484111,;PARP12,3_prime_UTR_variant,,ENST00000473341,;PARP12,non_coding_transcript_exon_variant,,ENST00000488726,;PARP12,non_coding_transcript_exon_variant,,ENST00000496624,;PARP12,non_coding_transcript_exon_variant,,ENST00000466597,;PARP12,non_coding_transcript_exon_variant,,ENST00000489383,;PARP12,intron_variant,,ENST00000491598,;	uc003vvl.1	c.1576G>T	2450/3796	1	1			c.1576G>T						7	SNP	c.(1576-1578)GTT>TTT	49	49			ovary(3)	3	Broad	poly ADP-ribose polymerase 12			139727128		0.512	ENSG00000059378	11265	g.chr7:139727128C>A		nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding							-42.178872	KEEP	3	1	0.25	103	90	3	1	0.25	6.599034	103	90	0.021053	1	0	0	0	0	1	0	0	0	--	--		0	A			PARP12_uc003vvk.1_Missense_Mutation_p.V312F|PARP12_uc010lnf.1_RNA	129	GBM-12-5295-TP	p.V526F	C	ATCTTCTGAACAAAGTAGAAA	NM_022750	NP_073587	139727128	Q9H0J9	PAR12_HUMAN	0			10	2450	-	A	A	Melanoma(164;0.0142)		Missense_Mutation	526			PARP catalytic.			
PARP12	0	broad.mit.edu	GRCh37	7	139724367	139724367	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01	TCGA-26-5136-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263549.3:c.2099G>A	p.Arg700Gln	p.R700Q	ENST00000263549	NM_022750.2	700	cGa/cAa	0			1			T	R/Q	uc003vvl.1	protein_coding	YES	CCDS5857.1			2099/2106									ovary(3)	3	c.(2098-2100)CGA>CAA				poly ADP-ribose polymerase 12				ENSP00000263549		12-Dec	1.65E-05			0.000116				6.12E-05	rs764607102,COSM2157136	12-Dec	.		ENST00000263549	Transcript				nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	ENSG00000059378	g.chr7:139724367C>T	21919			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=PAR12_HUMAN&rb=650&re=701&var=R700Q	getma.org/pdb.php?prot=PAR12_HUMAN&from=680&to=701&var=R700Q	getma.org/?cm=var&var=hg19,7,139724367,C,T&fts=all	R700Q	--	--	1																																		PARP12_uc003vvk.1_Missense_Mutation_p.R486Q|PARP12_uc010lnf.1_RNA	0,1	1		probably_damaging(0.992)	p.R700Q	NM_022750	NP_073587		deleterious_low_confidence(0.01)	0,1	PAR12_HUMAN	PARP12	HGNC	Q9H0J9	PAR12_HUMAN			A4D1T0_HUMAN		12	2973	-	Melanoma(164;0.0142)		UPI000006F644	700					SNV	PARP12,missense_variant,p.Arg700Gln,ENST00000263549,NM_022750.2;PARP12,3_prime_UTR_variant,,ENST00000489809,;TBXAS1,downstream_gene_variant,,ENST00000263552,NM_001130966.2;TBXAS1,downstream_gene_variant,,ENST00000416849,NM_001166253.1;TBXAS1,downstream_gene_variant,,ENST00000336425,;TBXAS1,downstream_gene_variant,,ENST00000425687,NM_001166254.1;TBXAS1,downstream_gene_variant,,ENST00000436047,NM_001061.4;TBXAS1,downstream_gene_variant,,ENST00000458722,;TBXAS1,downstream_gene_variant,,ENST00000448866,;TBXAS1,downstream_gene_variant,,ENST00000414508,NM_030984.3;TBXAS1,downstream_gene_variant,,ENST00000411653,;PARP12,downstream_gene_variant,,ENST00000484111,;PARP12,3_prime_UTR_variant,,ENST00000473341,;PARP12,non_coding_transcript_exon_variant,,ENST00000488726,;TBXAS1,downstream_gene_variant,,ENST00000422328,;PARP12,downstream_gene_variant,,ENST00000491598,;PARP12,downstream_gene_variant,,ENST00000496624,;PARP12,downstream_gene_variant,,ENST00000466597,;PARP12,downstream_gene_variant,,ENST00000489383,;	uc003vvl.1	c.2099G>A	2973/3796	1	1			c.2099G>A						7	SNP	c.(2098-2100)CGA>CAA	7	7			ovary(3)	3	Broad	poly ADP-ribose polymerase 12			139724367		0.522	ENSG00000059378	11265	g.chr7:139724367C>T		nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding							92.280829	KEEP	19	19	-1	30	35	19	19	-1	92.981365	30	35	0.4	1	0	0	0	0	1	0	0	0	--	--		0	T			PARP12_uc003vvk.1_Missense_Mutation_p.R486Q|PARP12_uc010lnf.1_RNA	185	GBM-26-5136-TP	p.R700Q	C	CGCTCACTGTCGGCTGCTGAA	NM_022750	NP_073587	139724367	Q9H0J9	PAR12_HUMAN	0			12	2973	-	T	T	Melanoma(164;0.0142)		Missense_Mutation	700						
PARP4	143	broad.mit.edu	GRCh37	13	25016086	25016086	+	synonymous_variant	Silent	SNP	A	A	G	rs113538547		TCGA-06-0213-01	TCGA-06-0213-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381989.3:c.3564T>C	p.Phe1188=	p.F1188=	ENST00000381989	NM_006437.3	1188	ttT/ttC	0			1			G	F	uc001upl.2	protein_coding	YES	CCDS9307.1			3564/5175									ovary(3)|skin(1)	4	c.(3562-3564)TTT>TTC			hmmpanther:PTHR10338:SF7,hmmpanther:PTHR10338	poly (ADP-ribose) polymerase family, member 4				ENSP00000371419		30/34									rs113538547,COSM246376	30/34	.		ENST00000381989	Transcript			cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	ENSG00000102699	g.chr13:25016086A>G	271			LOW								--	--	1																																			0,1	1			p.F1188F	NM_006437	NP_006428			0,1	PARP4_HUMAN	PARP4	HGNC	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)			30	3670	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	UPI000013C76E	1188					SNV	PARP4,synonymous_variant,p.=,ENST00000381989,NM_006437.3;TPTE2P6,intron_variant,,ENST00000445572,;	uc001upl.2	c.3564T>C	3670/5474	3	3			c.3564T>C						13	SNP	c.(3562-3564)TTT>TTC	62	62			ovary(3)|skin(1)	4	Broad	poly (ADP-ribose) polymerase family, member 4			25016086		0.413	ENSG00000102699	11271	g.chr13:25016086A>G	cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity							0.493121	KEEP	3	0	-1	33	19	3	0	-1	8.171809	33	19	0.073171	1	0	0	0	0	0	0	1	0	--	--		0	G				49	GBM-06-0213-TP	p.F1188F	A	GAATATCAGGAAAAGGCGACT	NM_006437	NP_006428	25016086	Q9UKK3	PARP4_HUMAN	0		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	30	3670	-	G	G		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	Silent	1188						
PARP8	0	broad.mit.edu	GRCh37	5	50091080	50091080	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-26-6174-01	TCGA-26-6174-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281631.5:c.1257A>G	p.Glu419=	p.E419=	ENST00000281631	NM_024615.3	419	gaA/gaG	0			1			G	E	uc003jon.3	protein_coding	YES	CCDS3954.1			1257/2565									lung(3)|large_intestine(1)|ovary(1)	5	c.(1255-1257)GAA>GAG			hmmpanther:PTHR21328,hmmpanther:PTHR21328:SF3	poly (ADP-ribose) polymerase family, member 8				ENSP00000281631		26-Dec									COSM3410298	26-Dec	.		ENST00000281631	Transcript				intracellular	NAD+ ADP-ribosyltransferase activity	ENSG00000151883	g.chr5:50091080A>G	26124			LOW								--	--	1																																		PARP8_uc011cpz.1_Silent_p.E311E|PARP8_uc003joo.2_Silent_p.E419E|PARP8_uc003jop.2_Silent_p.E419E	1	1			p.E419E	NM_024615	NP_078891			1	PARP8_HUMAN	PARP8	HGNC	Q8N3A8	PARP8_HUMAN			D6RGZ9_HUMAN		13	1439	+		Lung NSC(810;0.0305)|Breast(144;0.222)	UPI0000073D19	419					SNV	PARP8,synonymous_variant,p.=,ENST00000281631,NM_024615.3,NM_001178056.1;PARP8,synonymous_variant,p.=,ENST00000503750,;PARP8,synonymous_variant,p.=,ENST00000505554,;PARP8,synonymous_variant,p.=,ENST00000514067,;PARP8,synonymous_variant,p.=,ENST00000505697,NM_001178055.1;PARP8,synonymous_variant,p.=,ENST00000514342,;PARP8,non_coding_transcript_exon_variant,,ENST00000511363,;PARP8,non_coding_transcript_exon_variant,,ENST00000503561,;PARP8,3_prime_UTR_variant,,ENST00000515166,;	uc003jon.3	c.1257A>G	1415/7177	3	3			c.1257A>G						5	SNP	c.(1255-1257)GAA>GAG	14	14			lung(3)|large_intestine(1)|ovary(1)	5	Broad	poly (ADP-ribose) polymerase family, member 8			50091080		0.438	ENSG00000151883	11273	g.chr5:50091080A>G		intracellular	NAD+ ADP-ribosyltransferase activity							50.412561	KEEP	9	7	-1	27	18	9	7	-1	53.012518	27	18	0.275862	1	0	0	0	0	0	0	1	0	--	--		0	G			PARP8_uc011cpz.1_Silent_p.E311E|PARP8_uc003joo.2_Silent_p.E419E|PARP8_uc003jop.2_Silent_p.E419E	188	GBM-26-6174-TP	p.E419E	A	GAATGGAAGAATTATATGGAC	NM_024615	NP_078891	50091080	Q8N3A8	PARP8_HUMAN	0			13	1439	+	G	G		Lung NSC(810;0.0305)|Breast(144;0.222)	Silent	419						
PARP9	0	broad.mit.edu	GRCh37	3	122271392	122271392	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01	TCGA-26-6174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360356.2:c.1085C>T	p.Ser362Leu	p.S362L	ENST00000360356	NM_001146102.1	362	tCg/tTg	0	A:0		1			A	S/L	uc010hri.2	protein_coding	YES	CCDS3014.1			1085/2565									ovary(1)|pancreas(1)|prostate(1)|skin(1)	4	c.(1084-1086)TCG>TTG			PROSITE_profiles:PS51154,hmmpanther:PTHR14453:SF11,hmmpanther:PTHR14453,Gene3D:3.40.220.10,Pfam_domain:PF01661,SMART_domains:SM00506,Superfamily_domains:SSF52949	poly (ADP-ribose) polymerase family, member 9			A:0.0001	ENSP00000353512		11-May	2.47E-05	9.63E-05				3.00E-05			rs376922210,COSM3408181	11-May	.		ENST00000360356	Transcript			cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	ENSG00000138496	g.chr3:122271392G>A	24118			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=PARP9_HUMAN&rb=335&re=446&var=S362L	getma.org/pdb.php?prot=PARP9_HUMAN&from=335&to=446&var=S362L	getma.org/?cm=var&var=hg19,3,122271392,G,A&fts=all	S362L	--	--	1																																		PARP9_uc003eff.3_Missense_Mutation_p.S327L|PARP9_uc011bjs.1_Missense_Mutation_p.S327L|PARP9_uc003efg.2_Intron|PARP9_uc003efi.2_Missense_Mutation_p.S327L|PARP9_uc003efh.2_Missense_Mutation_p.S362L|PARP9_uc003efj.2_Missense_Mutation_p.S327L	0,1	1		benign(0.001)	p.S362L	NM_001146102	NP_001139574		tolerated(0.3)	0,1	PARP9_HUMAN	PARP9	HGNC	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	Q658Y0_HUMAN		5	1230	-			UPI000013D133	362			Macro 2.		SNV	PARP9,missense_variant,p.Ser327Leu,ENST00000462315,NM_001146106.1;PARP9,missense_variant,p.Ser362Leu,ENST00000360356,NM_001146102.1,NM_031458.2;PARP9,missense_variant,p.Ser327Leu,ENST00000477522,NM_001146103.1,NM_001146105.1;PARP9,missense_variant,p.Ser327Leu,ENST00000471785,NM_001146104.1;PARP9,intron_variant,,ENST00000492382,;PARP9,downstream_gene_variant,,ENST00000466126,;	uc010hri.2	c.1085C>T	1313/3198	1	1			c.1085C>T						3	SNP	c.(1084-1086)TCG>TTG	64	64			ovary(1)|pancreas(1)|prostate(1)|skin(1)	4	Broad	poly (ADP-ribose) polymerase family, member 9			122271392		0.373	ENSG00000138496	11274	g.chr3:122271392G>A	cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			175			175	17.143839	KEEP	4	7	-1	39	38	4	7	-1	26.783755	39	38	0.141026	1	0	0	0	0	1	0	0	0	--	--		0	A			PARP9_uc003eff.3_Missense_Mutation_p.S327L|PARP9_uc011bjs.1_Missense_Mutation_p.S327L|PARP9_uc003efg.2_Intron|PARP9_uc003efi.2_Missense_Mutation_p.S327L|PARP9_uc003efh.2_Missense_Mutation_p.S362L|PARP9_uc003efj.2_Missense_Mutation_p.S327L	188	GBM-26-6174-TP	p.S362L	G	AAGAAATTCCGATTTCATTTC	NM_001146102	NP_001139574	122271392	Q8IXQ6	PARP9_HUMAN	0		GBM - Glioblastoma multiforme(114;0.0519)	5	1230	-	A	A			Missense_Mutation	362			Macro 2.			
PARP9	0	broad.mit.edu	GRCh37	3	122274913	122274913	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-28-2509-01	TCGA-28-2509-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360356.2:c.210C>G	p.Asp70Glu	p.D70E	ENST00000360356	NM_001146102.1	70	gaC/gaG	0			1			C	D/E	uc010hri.2	protein_coding	YES	CCDS3014.1			210/2565									ovary(1)|pancreas(1)|prostate(1)|skin(1)	4	c.(208-210)GAC>GAG			hmmpanther:PTHR14453:SF11,hmmpanther:PTHR14453	poly (ADP-ribose) polymerase family, member 9				ENSP00000353512		11-Apr									COSM3408182	11-Apr	.		ENST00000360356	Transcript			cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	ENSG00000138496	g.chr3:122274913G>C	24118			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=PARP9_HUMAN&rb=52&re=97&var=D70E	NA	getma.org/?cm=var&var=hg19,3,122274913,G,C&fts=all	D70E	--	--	1																																		PARP9_uc003eff.3_Missense_Mutation_p.D35E|PARP9_uc011bjs.1_Missense_Mutation_p.D35E|PARP9_uc003efg.2_Intron|PARP9_uc003efi.2_Missense_Mutation_p.D35E|PARP9_uc003efh.2_Missense_Mutation_p.D70E|PARP9_uc003efj.2_Missense_Mutation_p.D35E	1	1		benign(0.015)	p.D70E	NM_001146102	NP_001139574		tolerated(0.28)	1	PARP9_HUMAN	PARP9	HGNC	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	Q658Y0_HUMAN		4	355	-			UPI000013D133	70					SNV	PARP9,missense_variant,p.Asp35Glu,ENST00000462315,NM_001146106.1;PARP9,missense_variant,p.Asp70Glu,ENST00000360356,NM_001146102.1,NM_031458.2;PARP9,missense_variant,p.Asp35Glu,ENST00000477522,NM_001146103.1,NM_001146105.1;PARP9,missense_variant,p.Asp35Glu,ENST00000471785,NM_001146104.1;PARP9,missense_variant,p.Asp48Glu,ENST00000466126,;PARP9,intron_variant,,ENST00000492382,;	uc010hri.2	c.210C>G	438/3198	3	3			c.210C>G						3	SNP	c.(208-210)GAC>GAG	6	6			ovary(1)|pancreas(1)|prostate(1)|skin(1)	4	Broad	poly (ADP-ribose) polymerase family, member 9			122274913		0.353	ENSG00000138496	11274	g.chr3:122274913G>C	cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			175			175	292.1943	KEEP	47	45	-1	37	38	47	45	-1	292.776683	37	38	0.57037	1	0	0	0	0	1	0	0	0	--	--		0	C			PARP9_uc003eff.3_Missense_Mutation_p.D35E|PARP9_uc011bjs.1_Missense_Mutation_p.D35E|PARP9_uc003efg.2_Intron|PARP9_uc003efi.2_Missense_Mutation_p.D35E|PARP9_uc003efh.2_Missense_Mutation_p.D70E|PARP9_uc003efj.2_Missense_Mutation_p.D35E	211	GBM-28-2509-TP	p.D70E	G	AAATTTTGAAGTCATTGTGGT	NM_001146102	NP_001139574	122274913	Q8IXQ6	PARP9_HUMAN	0		GBM - Glioblastoma multiforme(114;0.0519)	4	355	-	C	C			Missense_Mutation	70						
PARS2	0	broad.mit.edu	GRCh37	1	55224003	55224003	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-32-2491-01	TCGA-32-2491-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371279.3:c.832T>A	p.Phe278Ile	p.F278I	ENST00000371279	NM_152268.3	278	Ttc/Atc	0			1			T	F/I	uc001cxy.2	protein_coding	YES	CCDS597.1			832/1428									ovary(2)	2	c.(832-834)TTC>ATC			Gene3D:3.30.930.10,PROSITE_profiles:PS50862,hmmpanther:PTHR11451,hmmpanther:PTHR11451:SF3,Superfamily_domains:SSF55681	prolyl-tRNA synthetase (mitochondrial)(putative)	L-Proline(DB00172)			ENSP00000360327		2-Feb									COSM3400894	2-Feb	.		ENST00000371279	Transcript			prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity	ENSG00000162396	g.chr1:55224003A>T	30563			MODERATE		2.46	medium	getma.org/?cm=msa&ty=f&p=SYPM_HUMAN&rb=269&re=370&var=F278I	NA	getma.org/?cm=var&var=hg19,1,55224003,A,T&fts=all	F278I	--	--	1																																			1	1		benign(0.345)	p.F278I	NM_152268	NP_689481		deleterious(0.02)	1	SYPM_HUMAN	PARS2	HGNC	Q7L3T8	SYPM_HUMAN					2	915	-			UPI00000492D2	278					SNV	PARS2,missense_variant,p.Phe278Ile,ENST00000371279,NM_152268.3;	uc001cxy.2	c.832T>A	915/2347	1	1			c.832T>A						1	SNP	c.(832-834)TTC>ATC	8	8			ovary(2)	2	Broad	prolyl-tRNA synthetase (mitochondrial)(putative)		L-Proline(DB00172)	55224003		0.562	ENSG00000162396	11275	g.chr1:55224003A>T	prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity							-7.223492	KEEP	1	3	-1	33	38	1	3	-1	7.33508	33	38	0.045455	1	0	0	0	0	1	0	0	0	--	--		0	T				235	GBM-32-2491-TP	p.F278I	A	TTGGCTGAGAAGCTGCAGCGG	NM_152268	NP_689481	55224003	Q7L3T8	SYPM_HUMAN	0			2	915	-	T	T			Missense_Mutation	278						
PARVB	0	broad.mit.edu	GRCh37	22	44536022	44536022	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	rs149571024		TCGA-14-0781-01	TCGA-14-0781-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338758.7:c.711C>T	p.Phe237=	p.F237=	ENST00000338758	NM_013327.4	237	ttC/ttT	0	T:0.0002		1			T	F	uc003ben.2	protein_coding		CCDS14056.1			711/1095										0	c.(709-711)TTC>TTT			hmmpanther:PTHR12114:SF7,hmmpanther:PTHR12114	parvin, beta isoform b			T:0	ENSP00000342492		13-Aug	1.65E-05	9.61E-05	8.64E-05						rs149571024,COSM1034945	13-Aug	.		ENST00000338758	Transcript			cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding	ENSG00000188677	g.chr22:44536022C>T	14653			LOW								--	--	1																																		PARVB_uc003bem.2_Silent_p.F270F|PARVB_uc010gzn.2_Silent_p.F185F|PARVB_uc003beo.2_Silent_p.F200F	0,1				p.F237F	NM_013327	NP_037459			0,1	PARVB_HUMAN	PARVB	HGNC	Q9HBI1	PARVB_HUMAN					8	763	+		Ovarian(80;0.0246)|all_neural(38;0.0423)	UPI000013132A	237					SNV	PARVB,splice_region_variant,p.=,ENST00000338758,NM_013327.4;PARVB,splice_region_variant,p.=,ENST00000404989,NM_001243385.1;PARVB,splice_region_variant,p.=,ENST00000406477,NM_001003828.2;PARVB,downstream_gene_variant,,ENST00000495824,;	uc003ben.2	c.711C>T	774/5429	2	2			c.711C>T						22	SNP	c.(709-711)TTC>TTT	20	20				0	Broad	parvin, beta isoform b			44536022		0.532	ENSG00000188677	11277	g.chr22:44536022C>T	cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding							38.435323	KEEP	15	10	-1	74	81	15	10	-1	57.279812	74	81	0.146497	1	0	0	0	0	0	0	1	0	--	--		0	T			PARVB_uc003bem.2_Silent_p.F270F|PARVB_uc010gzn.2_Silent_p.F185F|PARVB_uc003beo.2_Silent_p.F200F	133	GBM-14-0781-TP	p.F237F	C	TGGGCCGGTTCGGTAAGTAAC	NM_013327	NP_037459	44536022	Q9HBI1	PARVB_HUMAN	0			8	763	+	T	T		Ovarian(80;0.0246)|all_neural(38;0.0423)	Silent	237						
PARVG	64098		GRCh37	22	44581720	44581720	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000444313.3:c.112C>T	p.Arg38Trp	p.R38W	ENST00000444313	NM_022141.6	38	Cgg/Tgg	0																																																																																																																																																																																																																																												
PASD1	0	broad.mit.edu	GRCh37	X	150817142	150817144	+	inframe_deletion	In_Frame_Del	DEL	GCT	GCT	-			TCGA-06-6698-01	TCGA-06-6698-01	GCT	GCT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370357.4:c.706_708delGCT	p.Ala236del	p.A236del	ENST00000370357	NM_173493.2	229	GCT/-	0			1			-	A/-	uc004fev.3	protein_coding	YES	CCDS35431.1			685-687/2322									ovary(3)	3	c.(685-687)GCTdel			Low_complexity_(Seg):seg	PAS domain containing 1				ENSP00000359382		16-Sep									rs750036801,COSM1116938,COSM1116937	16-Sep	.		ENST00000370357	Transcript				nucleus	signal transducer activity	ENSG00000166049	g.chrX:150817142_150817144delGCT	20686	21		MODERATE								--	--	1																																			0,1,1	1			p.A236del	NM_173493	NP_775764			0,1,1	PASD1_HUMAN	PASD1	HGNC	Q8IV76	PASD1_HUMAN					9	1017_1019	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI0000074686	236			Poly-Ala.		deletion	PASD1,inframe_deletion,p.Ala236del,ENST00000370357,NM_173493.2;PASD1,non_coding_transcript_exon_variant,,ENST00000464219,;RP11-45D17.1,intron_variant,,ENST00000413236,;	uc004fev.3	c.685_687delGCT	930-932/3163	5	5			c.685_687delGCT						23	DEL	c.(685-687)GCTdel	53	53			ovary(3)	3	Broad	PAS domain containing 1			150817144		0.355	ENSG00000166049	11279	g.chrX:150817142_150817144delGCT		nucleus	signal transducer activity																				0.04	1	1	0	1	0	0	0	0	0	--	--		0	-				112	GBM-06-6698-TP	p.A236del	GCT	CGTTGAACCCgctgctgctgctg	NM_173493	NP_775764	150817142	Q8IV76	PASD1_HUMAN	0			9	1017_1019	+	-	-	Acute lymphoblastic leukemia(192;6.56e-05)		In_Frame_Del	236			Poly-Ala.			
PASD1	139135		GRCh37	X	150817142	150817144	+	inframe_deletion	In_Frame_Del	DEL	GCT	GCT	-			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000370357.4:c.706_708del	p.Ala236del	p.A236del	ENST00000370357	NM_173493.2	229	GCT/-	0																																																																																																																																																																																																																																												
PASK	0	broad.mit.edu	GRCh37	2	242054741	242054741	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2519-01	TCGA-27-2519-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000234040.4:c.3160G>A	p.Ala1054Thr	p.A1054T	ENST00000234040	NM_001252119.1	1054	Gca/Aca	0			1			T	A/T	uc002wao.1	protein_coding		CCDS2545.1			3160/3972									ovary(4)|lung(1)|skin(1)	6	c.(3160-3162)GCA>ACA			PROSITE_profiles:PS50011,hmmpanther:PTHR22971,hmmpanther:PTHR22971:SF2,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112	PAS domain containing serine/threonine kinase				ENSP00000234040		13/18	8.24E-06		8.65E-05						rs764045481,COSM2910160,COSM2910159	13/18	.		ENST00000234040	Transcript			regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	ENSG00000115687	g.chr2:242054741C>T	17270			MODERATE		0.945	low	getma.org/?cm=msa&ty=f&p=PASK_HUMAN&rb=999&re=1251&var=A1054T	getma.org/pdb.php?prot=PASK_HUMAN&from=999&to=1251&var=A1054T	getma.org/?cm=var&var=hg19,2,242054741,C,T&fts=all	A1054T	--	--	1																																		PASK_uc010zol.1_Missense_Mutation_p.A868T|PASK_uc010zom.1_Missense_Mutation_p.A1019T|PASK_uc010fzl.1_Missense_Mutation_p.A1054T|PASK_uc010zon.1_Missense_Mutation_p.A835T|PASK_uc002wap.2_Missense_Mutation_p.A597T|PASK_uc002waq.2_Missense_Mutation_p.A1054T	0,1,1			probably_damaging(0.957)	p.A1054T	NM_015148	NP_055963		deleterious(0)	0,1,1	PASK_HUMAN	PASK	HGNC	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	Q14148_HUMAN,C9J4R3_HUMAN,C9J1Z3_HUMAN,B7Z7V7_HUMAN		13	3252	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	UPI000013C995	1054			Protein kinase.		SNV	PASK,missense_variant,p.Ala1054Thr,ENST00000403638,NM_001252124.1;PASK,missense_variant,p.Ala1054Thr,ENST00000405260,NM_001252120.1;PASK,missense_variant,p.Ala1054Thr,ENST00000234040,NM_001252119.1,NM_001252122.1,NM_015148.3;PASK,missense_variant,p.Ala1054Thr,ENST00000358649,;PASK,missense_variant,p.Ala868Thr,ENST00000544142,;PASK,missense_variant,p.Ala838Thr,ENST00000539818,;PASK,upstream_gene_variant,,ENST00000475666,;PASK,non_coding_transcript_exon_variant,,ENST00000493544,;PASK,upstream_gene_variant,,ENST00000489256,;AC005237.2,upstream_gene_variant,,ENST00000434368,;	uc002wao.1	c.3160G>A	3293/4572	2	2			c.3160G>A						2	SNP	c.(3160-3162)GCA>ACA	25	25			ovary(4)|lung(1)|skin(1)	6	Broad	PAS domain containing serine/threonine kinase			242054741		0.433	ENSG00000115687	11280	g.chr2:242054741C>T	regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			754			754	-47.846083	KEEP	0	4	-1	107	112	0	4	-1	6.721789	107	112	0.019048	1	0	0	0	0	1	0	0	0	--	--		0	T			PASK_uc010zol.1_Missense_Mutation_p.A868T|PASK_uc010zom.1_Missense_Mutation_p.A1019T|PASK_uc010fzl.1_Missense_Mutation_p.A1054T|PASK_uc010zon.1_Missense_Mutation_p.A835T|PASK_uc002wap.2_Missense_Mutation_p.A597T|PASK_uc002waq.2_Missense_Mutation_p.A1054T	199	GBM-27-2519-TP	p.A1054T	C	GATAGAATTGCGATCTCTAAA	NM_015148	NP_055963	242054741	Q96RG2	PASK_HUMAN	0		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	13	3252	-	T	T		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	Missense_Mutation	1054			Protein kinase.			
PASK	0	broad.mit.edu	GRCh37	2	242065780	242065780	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4934-01	TCGA-76-4934-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000234040.4:c.2550G>A	p.Thr850=	p.T850=	ENST00000234040	NM_001252119.1	850	acG/acA	0			1			T	T	uc002wao.1	protein_coding		CCDS2545.1			2550/3972									ovary(4)|lung(1)|skin(1)	6	c.(2548-2550)ACG>ACA			hmmpanther:PTHR22971,hmmpanther:PTHR22971:SF2	PAS domain containing serine/threonine kinase				ENSP00000234040		18-Oct	8.24E-06							6.06E-05	rs764571398,COSM1018840,COSM1018841	18-Oct	.		ENST00000234040	Transcript			regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	ENSG00000115687	g.chr2:242065780C>T	17270			LOW								--	--	1																																		PASK_uc010zol.1_Silent_p.T664T|PASK_uc010zom.1_Silent_p.T815T|PASK_uc010fzl.1_Silent_p.T850T|PASK_uc010zon.1_Silent_p.T631T|PASK_uc002wap.2_Silent_p.T393T|PASK_uc002waq.2_Silent_p.T850T	0,1,1				p.T850T	NM_015148	NP_055963			0,1,1	PASK_HUMAN	PASK	HGNC	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	Q14148_HUMAN,C9J4R3_HUMAN,C9J1Z3_HUMAN,B7Z7V7_HUMAN		10	2642	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	UPI000013C995	850	T -> M (in Ref. 2; BAA09484).				SNV	PASK,synonymous_variant,p.=,ENST00000403638,NM_001252124.1;PASK,synonymous_variant,p.=,ENST00000405260,NM_001252120.1;PASK,synonymous_variant,p.=,ENST00000234040,NM_001252119.1,NM_001252122.1,NM_015148.3;PASK,synonymous_variant,p.=,ENST00000358649,;PASK,synonymous_variant,p.=,ENST00000544142,;PASK,synonymous_variant,p.=,ENST00000539818,;PASK,downstream_gene_variant,,ENST00000459710,;PASK,non_coding_transcript_exon_variant,,ENST00000493544,;	uc002wao.1	c.2550G>A	2683/4572	2	2			c.2550G>A						2	SNP	c.(2548-2550)ACG>ACA	18	18			ovary(4)|lung(1)|skin(1)	6	Broad	PAS domain containing serine/threonine kinase			242065780		0.587	ENSG00000115687	11280	g.chr2:242065780C>T	regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			754			754	429.99057	KEEP	87	79	-1	65	73	87	79	-1	430.369761	65	73	0.541502	1	0	0	0	0	0	0	1	0	--	--		0	T			PASK_uc010zol.1_Silent_p.T664T|PASK_uc010zom.1_Silent_p.T815T|PASK_uc010fzl.1_Silent_p.T850T|PASK_uc010zon.1_Silent_p.T631T|PASK_uc002wap.2_Silent_p.T393T|PASK_uc002waq.2_Silent_p.T850T	272	GBM-76-4934-TP	p.T850T	C	CAGCATCCAACGTGGAAGGAA	NM_015148	NP_055963	242065780	Q96RG2	PASK_HUMAN	0		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	10	2642	-	T	T		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	Silent	850	T -> M (in Ref. 2; BAA09484).					
PATE2	0	broad.mit.edu	GRCh37	11	125648646	125648646	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01	TCGA-41-4097-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358524.3:c.23G>A	p.Gly8Asp	p.G8D	ENST00000358524	NM_212555.2	8	gGc/gAc	0			1			T	G/D	uc001qcu.2	protein_coding	YES	CCDS8465.1			23/342										0	c.(22-24)GGC>GAC			Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	prostate and testis expressed 2 precursor				ENSP00000351325		4-Jan									COSM3397524	4-Jan	.		ENST00000358524	Transcript				extracellular space		ENSG00000196844	g.chr11:125648646C>T	32249			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=PATE2_HUMAN&rb=1&re=47&var=G8D	NA	getma.org/?cm=var&var=hg19,11,125648646,C,T&fts=all	G8D	--	--	1																																		PATE2_uc010sbj.1_Missense_Mutation_p.G8D	1	1		unknown(0)	p.G8D	NM_212555	NP_997720		tolerated(0.13)	1	PATE2_HUMAN	PATE2	HGNC	Q6UY27	PATE2_HUMAN					1	69	-			UPI0000198EDC	8					SNV	PATE2,missense_variant,p.Gly8Asp,ENST00000358524,NM_212555.2;PATE2,missense_variant,p.Gly8Asp,ENST00000436890,;	uc001qcu.2	c.23G>A	69/1657	2	2			c.23G>A						11	SNP	c.(22-24)GGC>GAC	36	36				0	Broad	prostate and testis expressed 2 precursor			125648646		0.522	ENSG00000196844	11282	g.chr11:125648646C>T		extracellular space								-14.558831	KEEP	0	3	-1	43	57	0	3	-1	6.539347	43	57	0.033708	1	0	0	0	0	1	0	0	0	--	--		0	T			PATE2_uc010sbj.1_Missense_Mutation_p.G8D	257	GBM-41-4097-TP	p.G8D	C	AAAGACTGTGCCCAGGAGAAA	NM_212555	NP_997720	125648646	Q6UY27	PATE2_HUMAN	0			1	69	-	T	T			Missense_Mutation	8						
PAWR	0	broad.mit.edu	GRCh37	12	80014954	80014954	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2619-01	TCGA-19-2619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328827.4:c.550C>T	p.Gln184Ter	p.Q184*	ENST00000328827	NM_002583.2	184	Cag/Tag	0			1			A	Q/*	uc001syx.2	protein_coding	YES	CCDS31863.1			550/1023										0	c.(550-552)CAG>TAG			hmmpanther:PTHR15093	PRKC, apoptosis, WT1, regulator				ENSP00000328088		7-Mar									COSM2156160	7-Mar	.		ENST00000328827	Transcript			actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity	ENSG00000177425	g.chr12:80014954G>A	8614			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,12,80014954,G,A&fts=all	Q184*	--	--	1																																			1	1			p.Q184*	NM_002583	NP_002574			1	PAWR_HUMAN	PAWR	HGNC	Q96IZ0	PAWR_HUMAN			F8W1M8_HUMAN		3	836	-			UPI0000070738	184			Selective for apoptosis induction in cancer cells (SAC).		SNV	PAWR,stop_gained,p.Gln184Ter,ENST00000328827,NM_002583.2;PAWR,stop_gained,p.Gln130Ter,ENST00000551712,;PAWR,non_coding_transcript_exon_variant,,ENST00000550006,;PAWR,intron_variant,,ENST00000549050,;	uc001syx.2	c.550C>T	923/9129	5	2			c.550C>T						12	SNP	c.(550-552)CAG>TAG	47	47				0	Broad	PRKC, apoptosis, WT1, regulator			80014954		0.363	ENSG00000177425	11285	g.chr12:80014954G>A	actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity			121			121	277.319624	KEEP	58	50	-1	112	76	58	50	-1	281.247839	112	76	0.371747	1	0	0	0	0	0	1	0	0	--	--		0	A				161	GBM-19-2619-TP	p.Q184*	G	CGCTCTTTCTGCCCTGCTTCA	NM_002583	NP_002574	80014954	Q96IZ0	PAWR_HUMAN	0			3	836	-	A	A			Nonsense_Mutation	184			Selective for apoptosis induction in cancer cells (SAC).			
PAX2	5076	broad.mit.edu	GRCh37	10	102510548	102510548	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0174-01	TCGA-06-0174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428433.1:c.310C>T	p.Arg104Ter	p.R104*	ENST00000428433	NM_003987.3	104	Cga/Tga	0			1			T	R/*	uc001krk.3	protein_coding	YES	CCDS53569.1			310/1254										0	c.(310-312)CGA>TGA			Gene3D:1.10.10.10,Pfam_domain:PF00292,PROSITE_profiles:PS51057,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF172,SMART_domains:SM00351,Superfamily_domains:SSF46689	paired box protein 2 isoform e				ENSP00000396259		11-Mar									COSM3396871,COSM3396870	11-Mar	.		ENST00000428433	Transcript	1		anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	ENSG00000075891	g.chr10:102510548C>T	8616			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,10,102510548,C,T&fts=all	R104*	--	--	1																																		PAX2_uc001krl.3_Nonsense_Mutation_p.R104*|PAX2_uc001krm.3_Nonsense_Mutation_p.R104*|PAX2_uc001kro.3_Nonsense_Mutation_p.R104*|PAX2_uc001krn.3_Nonsense_Mutation_p.R104*|PAX2_uc010qps.1_Nonsense_Mutation_p.R103*|PAX2_uc001krp.1_Nonsense_Mutation_p.R108*	1,1	1			p.R104*	NM_003990	NP_003981			1,1	PAX2_HUMAN	PAX2	HGNC	Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	Q5SZP1_HUMAN		3	860	+		Colorectal(252;0.234)	UPI00001AEA24	104			Paired.		SNV	PAX2,stop_gained,p.Arg104Ter,ENST00000370296,;PAX2,stop_gained,p.Arg104Ter,ENST00000428433,NM_003987.3,NM_003990.3;PAX2,stop_gained,p.Arg104Ter,ENST00000355243,NM_000278.3,NM_003989.3;PAX2,stop_gained,p.Arg104Ter,ENST00000361791,NM_003988.3;PAX2,stop_gained,p.Arg108Ter,ENST00000554172,;PAX2,stop_gained,p.Arg103Ter,ENST00000556085,;PAX2,stop_gained,p.Arg104Ter,ENST00000427256,;PAX2,intron_variant,,ENST00000553492,;PAX2,intron_variant,,ENST00000554363,;PAX2,downstream_gene_variant,,ENST00000483202,;	uc001krk.3	c.310C>T	860/4126	5	2			c.310C>T						10	SNP	c.(310-312)CGA>TGA	20	20				0	Broad	paired box protein 2 isoform e			102510548		0.572	ENSG00000075891	11287	g.chr10:102510548C>T	anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity							314.460582	KEEP	60	58	-1	8	4	60	58	-1	331.977471	8	4	0.90566	1	0	0	0	0	0	1	0	0	--	--		0	T			PAX2_uc001krl.3_Nonsense_Mutation_p.R104*|PAX2_uc001krm.3_Nonsense_Mutation_p.R104*|PAX2_uc001kro.3_Nonsense_Mutation_p.R104*|PAX2_uc001krn.3_Nonsense_Mutation_p.R104*|PAX2_uc010qps.1_Nonsense_Mutation_p.R103*|PAX2_uc001krp.1_Nonsense_Mutation_p.R108*	37	GBM-06-0174-TP	p.R104*	C	TGAATACAAACGACAGAACCC	NM_003990	NP_003981	102510548	Q02962	PAX2_HUMAN	0		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	3	860	+	T	T		Colorectal(252;0.234)	Nonsense_Mutation	104			Paired.			
PAX3	0	broad.mit.edu	GRCh37	2	223096854	223096854	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000350526.4:c.735C>G	p.Asp245Glu	p.D245E	ENST00000350526	NM_181457.3	245	gaC/gaG	0			1			C	D/E	uc010fwo.2	protein_coding		CCDS42826.1			735/1440	T	Waardenburg syndrome; craniofacial-deafness-hand syndrome	FOXO1A|NCOA1		alveolar rhabdomyosarcoma		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)		soft_tissue(761)|ovary(4)|skin(1)	766	c.(733-735)GAC>GAG			PROSITE_profiles:PS50071,hmmpanther:PTHR24329:SF307,hmmpanther:PTHR24329,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689	paired box 3 isoform PAX3				ENSP00000343052		8-May									COSM2156044	8-May	.		ENST00000350526	Transcript	1		apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000135903	g.chr2:223096854G>C	8617			MODERATE		3.135	medium	getma.org/?cm=msa&ty=f&p=PAX3_HUMAN&rb=220&re=276&var=D245E	getma.org/pdb.php?prot=PAX3_HUMAN&from=220&to=276&var=D245E	getma.org/?cm=var&var=hg19,2,223096854,G,C&fts=all	D245E	--	--	1																																		PAX3_uc002vmt.1_Missense_Mutation_p.D245E|PAX3_uc002vmy.1_Missense_Mutation_p.D244E|PAX3_uc002vmv.1_Missense_Mutation_p.D245E|PAX3_uc002vmw.1_Missense_Mutation_p.D245E|PAX3_uc002vmx.1_Missense_Mutation_p.D245E	1			probably_damaging(0.999)	p.D245E	NM_181457	NP_852122		deleterious(0.01)	1	PAX3_HUMAN	PAX3	HGNC	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)			5	1101	-		Renal(207;0.0183)	UPI0000131369	245			Homeobox.		SNV	PAX3,missense_variant,p.Asp245Glu,ENST00000350526,NM_181457.3;PAX3,missense_variant,p.Asp245Glu,ENST00000392069,NM_001127366.2,NM_181458.3,NM_181459.3;PAX3,missense_variant,p.Asp245Glu,ENST00000344493,NM_181461.3,NM_181460.3;PAX3,missense_variant,p.Asp245Glu,ENST00000392070,;PAX3,missense_variant,p.Asp245Glu,ENST00000336840,;PAX3,missense_variant,p.Asp244Glu,ENST00000409551,;	uc010fwo.2	c.735C>G	872/3610	3	3			c.735C>G	T	Waardenburg syndrome; craniofacial-deafness-hand syndrome	FOXO1A|NCOA1		alveolar rhabdomyosarcoma	2	SNP	c.(733-735)GAC>GAG	51	51	PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)		soft_tissue(761)|ovary(4)|skin(1)	766	Broad	paired box 3 isoform PAX3			223096854		0.527	ENSG00000135903	11288	g.chr2:223096854G>C	apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			141			141	187.728169	KEEP	40	24	-1	59	89	40	24	-1	194.301187	59	89	0.301075	1	0	0	0	0	1	0	0	0	--	--		0	C			PAX3_uc002vmt.1_Missense_Mutation_p.D245E|PAX3_uc002vmy.1_Missense_Mutation_p.D244E|PAX3_uc002vmv.1_Missense_Mutation_p.D245E|PAX3_uc002vmw.1_Missense_Mutation_p.D245E|PAX3_uc002vmx.1_Missense_Mutation_p.D245E	160	GBM-19-1790-TP	p.D245E	G	TAGTATAAATGTCAGGGTAAT	NM_181457	NP_852122	223096854	P23760	PAX3_HUMAN	0		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	1101	-	C	C		Renal(207;0.0183)	Missense_Mutation	245			Homeobox.			
PAX3	0	broad.mit.edu	GRCh37	2	223066852	223066852	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01	TCGA-32-4719-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000350526.4:c.1231G>A	p.Ala411Thr	p.A411T	ENST00000350526	NM_181457.3	411	Gcg/Acg	0			1			T	A/T	uc010fwo.2	protein_coding		CCDS42826.1			1231/1440	T	Waardenburg syndrome; craniofacial-deafness-hand syndrome	FOXO1A|NCOA1		alveolar rhabdomyosarcoma		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)		soft_tissue(761)|ovary(4)|skin(1)	766	c.(1231-1233)GCG>ACG			hmmpanther:PTHR24329:SF307,hmmpanther:PTHR24329	paired box 3 isoform PAX3				ENSP00000343052		8-Aug	2.47E-05					5.85E-05			rs549206921,COSM3407603	8-Aug	.		ENST00000350526	Transcript	1		apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000135903	g.chr2:223066852C>T	8617			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=PAX3_HUMAN&rb=392&re=479&var=A411T	NA	getma.org/?cm=var&var=hg19,2,223066852,C,T&fts=all	A411T	--	--	1																																		PAX3_uc002vmt.1_Missense_Mutation_p.A411T|PAX3_uc002vmy.1_Missense_Mutation_p.A410T|PAX3_uc002vmv.1_Missense_Mutation_p.A411T|PAX3_uc002vmw.1_Intron|PAX3_uc002vmx.1_Intron	0,1			possibly_damaging(0.572)	p.A411T	NM_181457	NP_852122		deleterious_low_confidence(0.03)	0,1	PAX3_HUMAN	PAX3	HGNC	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)			8	1597	-		Renal(207;0.0183)	UPI0000131369	411					SNV	PAX3,missense_variant,p.Ala411Thr,ENST00000350526,NM_181457.3;PAX3,missense_variant,p.Ala411Thr,ENST00000392069,NM_001127366.2,NM_181458.3,NM_181459.3;PAX3,missense_variant,p.Ala411Thr,ENST00000392070,;PAX3,missense_variant,p.Ala410Thr,ENST00000409551,;PAX3,intron_variant,,ENST00000344493,NM_181461.3,NM_181460.3;PAX3,intron_variant,,ENST00000336840,;PAX3,non_coding_transcript_exon_variant,,ENST00000464706,;PAX3,downstream_gene_variant,,ENST00000555548,;	uc010fwo.2	c.1231G>A	1368/3610	2	2			c.1231G>A	T	Waardenburg syndrome; craniofacial-deafness-hand syndrome	FOXO1A|NCOA1		alveolar rhabdomyosarcoma	2	SNP	c.(1231-1233)GCG>ACG	29	29	PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)		soft_tissue(761)|ovary(4)|skin(1)	766	Broad	paired box 3 isoform PAX3			223066852		0.547	ENSG00000135903	11288	g.chr2:223066852C>T	apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			141			141	6.57778	KEEP	3	1	-1	14	15	3	1	-1	10.973425	14	15	0.125	1	0	0	0	0	1	0	0	0	--	--		0	T			PAX3_uc002vmt.1_Missense_Mutation_p.A411T|PAX3_uc002vmy.1_Missense_Mutation_p.A410T|PAX3_uc002vmv.1_Missense_Mutation_p.A411T|PAX3_uc002vmw.1_Intron|PAX3_uc002vmx.1_Intron	248	GBM-32-4719-TP	p.A411T	C	GGGGAGAGCGCGTAATCAGTC	NM_181457	NP_852122	223066852	P23760	PAX3_HUMAN	0		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1597	-	T	T		Renal(207;0.0183)	Missense_Mutation	411						
PAX3	0	broad.mit.edu	GRCh37	2	223161799	223161799	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000350526.4:c.219G>A	p.Ser73=	p.S73=	ENST00000350526	NM_181457.3	73	tcG/tcA	0			1			T	S	uc010fwo.2	protein_coding		CCDS42826.1			219/1440	T	Waardenburg syndrome; craniofacial-deafness-hand syndrome	FOXO1A|NCOA1		alveolar rhabdomyosarcoma		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)		soft_tissue(761)|ovary(4)|skin(1)	766	c.(217-219)TCG>TCA			PROSITE_profiles:PS51057,hmmpanther:PTHR24329:SF307,hmmpanther:PTHR24329,PROSITE_patterns:PS00034,Pfam_domain:PF00292,Gene3D:1.10.10.10,SMART_domains:SM00351,Superfamily_domains:SSF46689,Prints_domain:PR00027	paired box 3 isoform PAX3				ENSP00000343052		8-Feb									COSM3407606,COSM3407608,COSM3407607	8-Feb	.		ENST00000350526	Transcript	1		apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000135903	g.chr2:223161799C>T	8617			LOW								--	--	1																																		PAX3_uc002vmt.1_Silent_p.S73S|PAX3_uc002vmy.1_Silent_p.S73S|PAX3_uc002vmv.1_Silent_p.S73S|PAX3_uc002vmw.1_Silent_p.S73S|PAX3_uc002vmx.1_Silent_p.S73S|PAX3_uc002vmz.1_Silent_p.S73S|PAX3_uc002vna.1_Silent_p.S73S|CCDC140_uc002vnb.1_5'Flank	1,1,1				p.S73S	NM_181457	NP_852122			1,1,1	PAX3_HUMAN	PAX3	HGNC	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)			2	585	-		Renal(207;0.0183)	UPI0000131369	73		S -> L (in WS1).	Paired.		SNV	PAX3,synonymous_variant,p.=,ENST00000350526,NM_181457.3;PAX3,synonymous_variant,p.=,ENST00000392069,NM_001127366.2,NM_181458.3,NM_181459.3;PAX3,synonymous_variant,p.=,ENST00000344493,NM_181461.3,NM_181460.3;PAX3,synonymous_variant,p.=,ENST00000392070,;PAX3,synonymous_variant,p.=,ENST00000336840,;PAX3,synonymous_variant,p.=,ENST00000409551,;PAX3,synonymous_variant,p.=,ENST00000409828,NM_000438.5;PAX3,synonymous_variant,p.=,ENST00000258387,NM_013942.4;CCDC140,upstream_gene_variant,,ENST00000295226,NM_153038.1;	uc010fwo.2	c.219G>A	356/3610	1	1			c.219G>A	T	Waardenburg syndrome; craniofacial-deafness-hand syndrome	FOXO1A|NCOA1		alveolar rhabdomyosarcoma	2	SNP	c.(217-219)TCG>TCA	1	1	PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)		soft_tissue(761)|ovary(4)|skin(1)	766	Broad	paired box 3 isoform PAX3			223161799		0.647	ENSG00000135903	11288	g.chr2:223161799C>T	apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			141			141	48.896983	KEEP	10	10	-1	13	14	10	10	-1	49.102748	13	14	0.421053	1	0	0	0	0	0	0	1	0	--	--		0	T			PAX3_uc002vmt.1_Silent_p.S73S|PAX3_uc002vmy.1_Silent_p.S73S|PAX3_uc002vmv.1_Silent_p.S73S|PAX3_uc002vmw.1_Silent_p.S73S|PAX3_uc002vmx.1_Silent_p.S73S|PAX3_uc002vmz.1_Silent_p.S73S|PAX3_uc002vna.1_Silent_p.S73S|CCDC140_uc002vnb.1_5'Flank	271	GBM-76-4932-TP	p.S73S	C	GCAGCTGGCGCGAGATGACGC	NM_181457	NP_852122	223161799	P23760	PAX3_HUMAN	0		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	585	-	T	T		Renal(207;0.0183)	Silent	73		S -> L (in WS1).	Paired.			
PAX3	0	broad.mit.edu	GRCh37	2	223066892	223066892	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-81-5910-01	TCGA-81-5910-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000350526.4:c.1191C>T	p.Thr397=	p.T397=	ENST00000350526	NM_181457.3	397	acC/acT	0			1			A	T	uc010fwo.2	protein_coding		CCDS42826.1			1191/1440	T	Waardenburg syndrome; craniofacial-deafness-hand syndrome	FOXO1A|NCOA1		alveolar rhabdomyosarcoma		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)		soft_tissue(761)|ovary(4)|skin(1)	766	c.(1189-1191)ACC>ACT			hmmpanther:PTHR24329:SF307,hmmpanther:PTHR24329	paired box 3 isoform PAX3				ENSP00000343052		8-Aug									COSM3407604	8-Aug	.		ENST00000350526	Transcript	1		apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000135903	g.chr2:223066892G>A	8617			LOW								--	--	1																																		PAX3_uc002vmt.1_Silent_p.T397T|PAX3_uc002vmy.1_Silent_p.T396T|PAX3_uc002vmv.1_Silent_p.T397T|PAX3_uc002vmw.1_Intron|PAX3_uc002vmx.1_Intron	1				p.T397T	NM_181457	NP_852122			1	PAX3_HUMAN	PAX3	HGNC	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)			8	1557	-		Renal(207;0.0183)	UPI0000131369	397					SNV	PAX3,synonymous_variant,p.=,ENST00000350526,NM_181457.3;PAX3,synonymous_variant,p.=,ENST00000392069,NM_001127366.2,NM_181458.3,NM_181459.3;PAX3,synonymous_variant,p.=,ENST00000392070,;PAX3,synonymous_variant,p.=,ENST00000409551,;PAX3,intron_variant,,ENST00000344493,NM_181461.3,NM_181460.3;PAX3,intron_variant,,ENST00000336840,;PAX3,non_coding_transcript_exon_variant,,ENST00000464706,;PAX3,non_coding_transcript_exon_variant,,ENST00000555548,;	uc010fwo.2	c.1191C>T	1328/3610	2	2			c.1191C>T	T	Waardenburg syndrome; craniofacial-deafness-hand syndrome	FOXO1A|NCOA1		alveolar rhabdomyosarcoma	2	SNP	c.(1189-1191)ACC>ACT	33	33	PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)		soft_tissue(761)|ovary(4)|skin(1)	766	Broad	paired box 3 isoform PAX3			223066892		0.537	ENSG00000135903	11288	g.chr2:223066892G>A	apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			141			141	7.518965	KEEP	2	1	-1	1	7	2	1	-1	8.032064	1	7	0.272727	1	0	0	0	0	0	0	1	0	--	--		0	A			PAX3_uc002vmt.1_Silent_p.T397T|PAX3_uc002vmy.1_Silent_p.T396T|PAX3_uc002vmv.1_Silent_p.T397T|PAX3_uc002vmw.1_Intron|PAX3_uc002vmx.1_Intron	289	GBM-81-5910-TP	p.T397T	G	CACCGTGGTTGGTCAGGAGTC	NM_181457	NP_852122	223066892	P23760	PAX3_HUMAN	0		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1557	-	A	A		Renal(207;0.0183)	Silent	397						
PAX3	5077		GRCh37	2	223084911	223084911	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000392069.2:c.1121C>T	p.Ser374Leu	p.S374L	ENST00000392069	NM_001127366.2	374	tCg/tTg	0																																																																																																																																																																																																																																												
PAX4	0	broad.mit.edu	GRCh37	7	127254980	127254980	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01	TCGA-12-0619-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341640.2:c.290G>A	p.Arg97His	p.R97H	ENST00000341640	NM_006193.2	97	cGc/cAc	0			1			T	R/H	uc010lld.1	protein_coding	YES	CCDS5797.1			290/1032									ovary(1)	1	c.(289-291)CGC>CAC			Gene3D:1.10.10.10,Pfam_domain:PF00292,PROSITE_profiles:PS51057,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF14,SMART_domains:SM00351,Superfamily_domains:SSF46689	paired box 4				ENSP00000339906		9-Feb	4.12E-05		8.66E-05	0.000116		1.50E-05		0.000122	rs765561668,COSM2153666,COSM3411564	9-Feb	.		ENST00000341640	Transcript	1		cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000106331	g.chr7:127254980C>T	8618			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=PAX4_HUMAN&rb=5&re=129&var=R105H	getma.org/pdb.php?prot=PAX4_HUMAN&from=5&to=129&var=R105H	getma.org/?cm=var&var=hg19,7,127254980,C,T&fts=all	R105H	--	--	1																																		PAX4_uc003vmf.2_Missense_Mutation_p.R95H|PAX4_uc003vmg.1_Missense_Mutation_p.R97H|PAX4_uc003vmh.2_Missense_Mutation_p.R95H	0,1,1	1		benign(0.024)	p.R97H	NM_006193	NP_006184		tolerated(0.06)	0,1,1	PAX4_HUMAN	PAX4	HGNC	O43316	PAX4_HUMAN					2	496	-			UPI000013C824	105			Paired.		SNV	PAX4,missense_variant,p.Arg97His,ENST00000341640,NM_006193.2;PAX4,missense_variant,p.Arg105His,ENST00000338516,;PAX4,missense_variant,p.Arg95His,ENST00000463946,;PAX4,missense_variant,p.Arg97His,ENST00000378740,;PAX4,missense_variant,p.Arg95His,ENST00000483494,;PAX4,non_coding_transcript_exon_variant,,ENST00000477423,;	uc010lld.1	c.290G>A	496/2010	1	1			c.290G>A						7	SNP	c.(289-291)CGC>CAC	14	14			ovary(1)	1	Broad	paired box 4			127254980		0.592	ENSG00000106331	11289	g.chr7:127254980C>T	cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	Ovarian(113;737 1605 7858 27720 34092)			Ovarian(113;737 1605 7858 27720 34092)			109.135042	KEEP	21	29	-1	70	59	21	29	-1	117.577486	70	59	0.263473	1	0	0	0	0	1	0	0	0	--	--		0	T			PAX4_uc003vmf.2_Missense_Mutation_p.R95H|PAX4_uc003vmg.1_Missense_Mutation_p.R97H|PAX4_uc003vmh.2_Missense_Mutation_p.R95H	120	GBM-12-0619-TP	p.R97H	C	ACAAAGCTGGCGTTGGATTTC	NM_006193	NP_006184	127254980	O43316	PAX4_HUMAN	0			2	496	-	T	T			Missense_Mutation	105			Paired.			
PAX5	5079	broad.mit.edu	GRCh37	9	36846902	36846902	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0214-01	TCGA-06-0214-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358127.4:c.1037A>G	p.Tyr346Cys	p.Y346C	ENST00000358127	NM_001280556.1	346	tAc/tGc	0			1			C	Y/C	uc003zzo.1	protein_coding	YES	CCDS6607.1			1037/1176	T|Mis|D|F|S		IGH@|ETV6|PML|FOXP1|ZNF521|ELN		NHL|ALL|B-ALL		PAX5/JAK2(18)	p.?(11)|p.Y346C(1)	haematopoietic_and_lymphoid_tissue(142)|lung(3)|central_nervous_system(2)	147	c.(1036-1038)TAC>TGC			hmmpanther:PTHR24329:SF259,hmmpanther:PTHR24329,Pfam_domain:PF12403	paired box 5				ENSP00000350844		10-Sep									COSM35505	10-Sep	.		ENST00000358127	Transcript	1		cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	ENSG00000196092	g.chr9:36846902T>C	8619			MODERATE		2.22	medium	getma.org/?cm=msa&ty=f&p=PAX5_HUMAN&rb=276&re=390&var=Y346C	NA	getma.org/?cm=var&var=hg19,9,36846902,T,C&fts=all	Y346C	--	--	1																																		PAX5_uc011lpt.1_Missense_Mutation_p.Y142C|PAX5_uc011lpu.1_RNA|PAX5_uc011lpv.1_Intron|PAX5_uc011lpw.1_Intron|PAX5_uc011lpx.1_Missense_Mutation_p.Y246C|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Intron|PAX5_uc011lpz.1_Missense_Mutation_p.Y303C|PAX5_uc011lqa.1_Missense_Mutation_p.Y238C|PAX5_uc010mlq.1_RNA|PAX5_uc011lqb.1_RNA|PAX5_uc010mlo.1_Missense_Mutation_p.Y312C|PAX5_uc010mlp.1_Intron|PAX5_uc011lqc.1_Intron|PAX5_uc010mlr.1_Missense_Mutation_p.T269A	1	1		probably_damaging(0.992)	p.Y346C	NM_016734	NP_057953		deleterious(0)	1	PAX5_HUMAN	PAX5	HGNC	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	E7ERK2_HUMAN,C0KTE1_HUMAN		9	1485	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	UPI000013136C	346					SNV	PAX5,missense_variant,p.Tyr346Cys,ENST00000358127,NM_001280556.1,NM_001280547.1,NM_001280548.1,NM_001280554.1,NM_016734.2;PAX5,missense_variant,p.Tyr312Cys,ENST00000377852,;PAX5,missense_variant,p.Thr269Ala,ENST00000523241,NM_001280549.1;PAX5,missense_variant,p.Tyr303Cys,ENST00000414447,;PAX5,missense_variant,p.Tyr238Cys,ENST00000522003,;PAX5,missense_variant,p.Tyr246Cys,ENST00000446742,NM_001280555.1;PAX5,missense_variant,p.Tyr173Cys,ENST00000524340,;PAX5,intron_variant,,ENST00000377853,;PAX5,intron_variant,,ENST00000520154,NM_001280550.1;PAX5,intron_variant,,ENST00000377847,NM_001280552.1;PAX5,intron_variant,,ENST00000520281,NM_001280553.1;PAX5,intron_variant,,ENST00000523145,NM_001280551.1;PAX5,intron_variant,,ENST00000522932,;PAX5,3_prime_UTR_variant,,ENST00000377840,;PAX5,3_prime_UTR_variant,,ENST00000523493,;	uc003zzo.1	c.1037A>G	1112/8536	3	3			c.1037A>G	T|Mis|D|F|S		IGH@|ETV6|PML|FOXP1|ZNF521|ELN		NHL|ALL|B-ALL	9	SNP	c.(1036-1038)TAC>TGC	12	12	PAX5/JAK2(18)	p.?(11)|p.Y346C(1)	haematopoietic_and_lymphoid_tissue(142)|lung(3)|central_nervous_system(2)	147	Broad	paired box 5			36846902		0.597	ENSG00000196092	11290	g.chr9:36846902T>C	cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding			323			323	37.411637	KEEP	8	7	-1	31	43	8	7	-1	44.304136	31	43	0.186667	1	0	0	0	0	1	0	0	0	--	--		0	C			PAX5_uc011lpt.1_Missense_Mutation_p.Y142C|PAX5_uc011lpu.1_RNA|PAX5_uc011lpv.1_Intron|PAX5_uc011lpw.1_Intron|PAX5_uc011lpx.1_Missense_Mutation_p.Y246C|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Intron|PAX5_uc011lpz.1_Missense_Mutation_p.Y303C|PAX5_uc011lqa.1_Missense_Mutation_p.Y238C|PAX5_uc010mlq.1_RNA|PAX5_uc011lqb.1_RNA|PAX5_uc010mlo.1_Missense_Mutation_p.Y312C|PAX5_uc010mlp.1_Intron|PAX5_uc011lqc.1_Intron|PAX5_uc010mlr.1_Missense_Mutation_p.T269A	50	GBM-06-0214-TP	p.Y346C	T	AGGGTGGCTGTAGGGACTCCC	NM_016734	NP_057953	36846902	Q02548	PAX5_HUMAN	0		GBM - Glioblastoma multiforme(29;0.0108)	9	1485	-	C	C		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	Missense_Mutation	346						
PAX5	5079		GRCh37	9	37020696	37020696	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0165-01	TCGA-06-0165-01																				ENST00000358127.4:c.149G>T	p.Arg50Met	p.R50M	ENST00000358127	NM_001280556.1	50	aGg/aTg	0																																																																																																																																																																																																																																												
PAX5	5079		GRCh37	9	37020754	37020754	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000358127.4:c.91C>T	p.Arg31Trp	p.R31W	ENST00000358127	NM_001280556.1	31	Cgg/Tgg	0																																																																																																																																																																																																																																												
PAX6	5080	broad.mit.edu	GRCh37	11	31824337	31824337	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-1804-01	TCGA-06-1804-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000419022.1:c.56G>T	p.Arg19Leu	p.R19L	ENST00000419022	NM_001258462.1	19	cGg/cTg	0			1			A	R/L	uc001mtd.3	protein_coding		CCDS31451.1			56/1269									lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	c.(55-57)CGG>CTG			Prints_domain:PR00027,Superfamily_domains:SSF46689,SMART_domains:SM00351,Pfam_domain:PF00292,Gene3D:1.10.10.10,hmmpanther:PTHR24329:SF294,hmmpanther:PTHR24329,PROSITE_profiles:PS51057	paired box gene 6 isoform a				ENSP00000241001		13-May									COSM3397635	13-May	.	Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation	ENST00000241001	Transcript	1		blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	ENSG00000007372	g.chr11:31824337C>A	8620			MODERATE		3.245	medium	getma.org/?cm=msa&ty=f&p=PAX6_HUMAN&rb=4&re=128&var=R19L	getma.org/pdb.php?prot=PAX6_HUMAN&from=4&to=128&var=R19L	getma.org/?cm=var&var=hg19,11,31824337,C,A&fts=all	R19L	--	--	1																																		PAX6_uc001mte.3_Missense_Mutation_p.R19L|PAX6_uc001mtg.3_Missense_Mutation_p.R19L|PAX6_uc001mtf.3_Missense_Mutation_p.R19L|PAX6_uc001mth.3_Missense_Mutation_p.R19L|PAX6_uc009yjr.2_Missense_Mutation_p.R19L	1			probably_damaging(1)	p.R19L	NM_001127612	NP_001121084		deleterious(0)	1	PAX6_HUMAN	PAX6	HGNC	P26367	PAX6_HUMAN			Q6VMP0_HUMAN,Q66SS1_HUMAN,E9PKM0_HUMAN,E5LBD7_HUMAN,D3DQZ8_HUMAN,B1B1I8_HUMAN		4	946	-	Lung SC(675;0.225)		UPI0000000CC0	19		R -> P (in AN).	Paired.		SNV	PAX6,missense_variant,p.Arg19Leu,ENST00000419022,NM_001258462.1,NM_001127612.1,NM_001258463.1;PAX6,missense_variant,p.Arg19Leu,ENST00000379129,;PAX6,missense_variant,p.Arg19Leu,ENST00000379107,;PAX6,missense_variant,p.Arg19Leu,ENST00000379132,;PAX6,missense_variant,p.Arg19Leu,ENST00000379123,NM_000280.4,NM_001258464.1;PAX6,missense_variant,p.Arg19Leu,ENST00000379109,;PAX6,missense_variant,p.Arg19Leu,ENST00000379115,NM_001604.5;PAX6,missense_variant,p.Arg19Leu,ENST00000241001,;PAX6,missense_variant,p.Arg19Leu,ENST00000379111,NM_001258465.1;PAX6,missense_variant,p.Arg19Leu,ENST00000524853,;PAX6,missense_variant,p.Arg19Leu,ENST00000423822,;PAX6,missense_variant,p.Arg19Leu,ENST00000455099,;PAX6,missense_variant,p.Arg19Leu,ENST00000438681,;PAX6,downstream_gene_variant,,ENST00000525535,;PAX6,non_coding_transcript_exon_variant,,ENST00000533156,;PAX6,non_coding_transcript_exon_variant,,ENST00000471303,;PAX6,non_coding_transcript_exon_variant,,ENST00000481563,;PAX6,non_coding_transcript_exon_variant,,ENST00000530714,;PAX6,non_coding_transcript_exon_variant,,ENST00000534353,;PAX6,upstream_gene_variant,,ENST00000531910,;PAX6,upstream_gene_variant,,ENST00000530373,;PAX6,non_coding_transcript_exon_variant,,ENST00000533333,;PAX6,non_coding_transcript_exon_variant,,ENST00000470027,;PAX6,non_coding_transcript_exon_variant,,ENST00000494377,;PAX6,non_coding_transcript_exon_variant,,ENST00000534390,;PAX6,intron_variant,,ENST00000464174,;PAX6,downstream_gene_variant,,ENST00000532175,;PAX6,downstream_gene_variant,,ENST00000527769,;	uc001mtd.3	c.56G>T	397/1631	2	2			c.56G>T						11	SNP	c.(55-57)CGG>CTG	26	26			lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	Broad	paired box gene 6 isoform a			31824337	Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation	0.498	ENSG00000007372	11291	g.chr11:31824337C>A	blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity							1.733457	KEEP	6	1	0.142857143	29	38	6	1	0.142857143	12.576663	29	38	0.081967	1	0	0	0	0	1	0	0	0	--	--		0	A			PAX6_uc001mte.3_Missense_Mutation_p.R19L|PAX6_uc001mtg.3_Missense_Mutation_p.R19L|PAX6_uc001mtf.3_Missense_Mutation_p.R19L|PAX6_uc001mth.3_Missense_Mutation_p.R19L|PAX6_uc009yjr.2_Missense_Mutation_p.R19L	79	GBM-06-1804-TP	p.R19L	C	CGGCAGTGGCCGCCCGTTGAC	NM_001127612	NP_001121084	31824337	P26367	PAX6_HUMAN	0			4	946	-	A	A	Lung SC(675;0.225)		Missense_Mutation	19		R -> P (in AN).	Paired.			
PAX8	0	broad.mit.edu	GRCh37	2	113999249	113999249	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263334.5:c.656C>A	p.Pro219His	p.P219H	ENST00000263334		219	cCc/cAc	0			1			T	P/H	uc010yxt.1	protein_coding		CCDS46399.1			656/1197	T	Thyroid dysgenesis	PPARG		follicular thyroid				ovary(1)|lung(1)	2	c.(655-657)CCC>CAC			hmmpanther:PTHR24329:SF10,hmmpanther:PTHR24329	paired box 8 isoform PAX8A				ENSP00000263334		10-Jun									COSM1527700	10-Jun	.		ENST00000263334	Transcript	1		branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity	ENSG00000125618	g.chr2:113999249G>T	8622			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=PAX8_HUMAN&rb=134&re=333&var=P219H	NA	getma.org/?cm=var&var=hg19,2,113999249,G,T&fts=all	P219H	--	--	1																																		PAX8_uc010yxu.1_Missense_Mutation_p.P219H|PAX8_uc010yxv.1_Missense_Mutation_p.P219H|PAX8_uc002tjm.2_Missense_Mutation_p.P219H|PAX8_uc002tjn.2_Missense_Mutation_p.P219H|PAX8_uc010fku.1_Missense_Mutation_p.P219H|LOC654433_uc002tjq.3_Intron|LOC654433_uc010fks.2_Intron|LOC654433_uc010fkt.2_Intron|LOC654433_uc002tjr.3_Intron	1			benign(0.028)	p.P219H	NM_003466	NP_003457		tolerated(0.14)	1	PAX8_HUMAN	PAX8	HGNC	Q06710	PAX8_HUMAN					7	822	-			UPI0000161BD3	219					SNV	PAX8,missense_variant,p.Pro219His,ENST00000429538,NM_003466.3;PAX8,missense_variant,p.Pro219His,ENST00000348715,NM_013952.3;PAX8,missense_variant,p.Pro219His,ENST00000263335,NM_013953.3;PAX8,missense_variant,p.Pro219His,ENST00000397647,NM_013992.3;PAX8,missense_variant,p.Pro219His,ENST00000263334,;PAX8,missense_variant,p.Pro5His,ENST00000468980,;PAX8-AS1,intron_variant,,ENST00000422956,;PAX8-AS1,intron_variant,,ENST00000436293,;PAX8-AS1,intron_variant,,ENST00000445745,;PAX8-AS1,intron_variant,,ENST00000333145,;PAX8-AS1,intron_variant,,ENST00000451179,;PAX8-AS1,intron_variant,,ENST00000553869,;PAX8-AS1,intron_variant,,ENST00000556070,;PAX8-AS1,downstream_gene_variant,,ENST00000437551,;PAX8-AS1,downstream_gene_variant,,ENST00000456685,;RP11-65I12.1,downstream_gene_variant,,ENST00000553319,;PAX8,3_prime_UTR_variant,,ENST00000497038,;PAX8,3_prime_UTR_variant,,ENST00000554830,;PAX8,non_coding_transcript_exon_variant,,ENST00000467778,;PAX8,upstream_gene_variant,,ENST00000485840,;PAX8-AS1,downstream_gene_variant,,ENST00000555766,;PAX8,upstream_gene_variant,,ENST00000554352,;	uc010yxt.1	c.656C>A	656/1197	2	2			c.656C>A	T	Thyroid dysgenesis	PPARG		follicular thyroid	2	SNP	c.(655-657)CCC>CAC	45	45			ovary(1)|lung(1)	2	Broad	paired box 8 isoform PAX8A			113999249		0.597	ENSG00000125618	11293	g.chr2:113999249G>T	branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity	Ovarian(188;7 2067 9084 29802 29892)		171	Ovarian(188;7 2067 9084 29802 29892)		171	56.416915	KEEP	19	7	0.730769231	34	24	19	7	0.730769231	59.138144	34	24	0.297297	1	0	0	0	0	1	0	0	0	--	--		0	T			PAX8_uc010yxu.1_Missense_Mutation_p.P219H|PAX8_uc010yxv.1_Missense_Mutation_p.P219H|PAX8_uc002tjm.2_Missense_Mutation_p.P219H|PAX8_uc002tjn.2_Missense_Mutation_p.P219H|PAX8_uc010fku.1_Missense_Mutation_p.P219H|LOC654433_uc002tjq.3_Intron|LOC654433_uc010fks.2_Intron|LOC654433_uc010fkt.2_Intron|LOC654433_uc002tjr.3_Intron	160	GBM-19-1790-TP	p.P219H	G	GTGCTTTCGGGGTCCGCTGCT	NM_003466	NP_003457	113999249	Q06710	PAX8_HUMAN	0			7	822	-	T	T			Missense_Mutation	219						
PBRM1	0	broad.mit.edu	GRCh37	3	52595840	52595840	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01	TCGA-27-2527-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296302.7:c.4231C>T	p.Arg1411Cys	p.R1411C	ENST00000296302		1411	Cgc/Tgc	0			1			A	R/C	uc003des.2	protein_coding					4231/5070	Mis|N|F|S|D|O				clear cell renal carcinoma|breast				kidney(136)|breast(4)	140	c.(4231-4233)CGC>TGC			Gene3D:1.10.30.10,Pfam_domain:PF00505,PROSITE_profiles:PS50118,hmmpanther:PTHR16062,SMART_domains:SM00398,Superfamily_domains:SSF47095	polybromo 1 isoform 4				ENSP00000296302		25/30									COSM3408799,COSM3408800,COSM3408798	25/30	.		ENST00000296302	Transcript	1		chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	ENSG00000163939	g.chr3:52595840G>A	30064			MODERATE		2.995	medium	getma.org/?cm=msa&ty=f&p=PB1_HUMAN&rb=1379&re=1446&var=R1411C	getma.org/pdb.php?prot=PB1_HUMAN&from=1379&to=1446&var=R1411C	getma.org/?cm=var&var=hg19,3,52595840,G,A&fts=all	R1411C	--	--	1																																		PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.R1411C|PBRM1_uc003der.2_Missense_Mutation_p.R1379C|PBRM1_uc003det.2_Missense_Mutation_p.R1426C|PBRM1_uc003deu.2_Missense_Mutation_p.R1426C|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.R1411C|PBRM1_uc010hmk.1_Missense_Mutation_p.R1386C|PBRM1_uc003dey.2_Missense_Mutation_p.R1359C|PBRM1_uc003dez.1_Missense_Mutation_p.R1410C	1,1,1			probably_damaging(1)	p.R1411C	NM_181042	NP_060635		deleterious(0)	1,1,1	PB1_HUMAN	PBRM1	HGNC	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	C9JQF1_HUMAN,C9JPI5_HUMAN,C9JCJ2_HUMAN,C9J9L6_HUMAN,C9J409_HUMAN,C9J053_HUMAN		25	4243	-			UPI000019A59F	1411			HMG box.		SNV	PBRM1,missense_variant,p.Arg1379Cys,ENST00000356770,;PBRM1,missense_variant,p.Arg1411Cys,ENST00000296302,;PBRM1,missense_variant,p.Arg1359Cys,ENST00000394830,NM_018313.4;PBRM1,missense_variant,p.Arg1426Cys,ENST00000409114,;PBRM1,missense_variant,p.Arg1411Cys,ENST00000409057,;PBRM1,missense_variant,p.Arg1386Cys,ENST00000410007,;PBRM1,missense_variant,p.Arg1426Cys,ENST00000409767,;PBRM1,missense_variant,p.Arg1411Cys,ENST00000337303,;PBRM1,missense_variant,p.Arg1410Cys,ENST00000423351,;SMIM4,intron_variant,,ENST00000476842,;RNU6ATAC16P,downstream_gene_variant,,ENST00000408591,;PBRM1,3_prime_UTR_variant,,ENST00000412587,;	uc003des.2	c.4231C>T	4233/5145	2	2			c.4231C>T	Mis|N|F|S|D|O				clear cell renal carcinoma|breast	3	SNP	c.(4231-4233)CGC>TGC	18	18			kidney(136)|breast(4)	140	Broad	polybromo 1 isoform 4			52595840		0.498	ENSG00000163939	11299	g.chr3:52595840G>A	chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding							160.942227	KEEP	41	48	-1	223	254	41	48	-1	219.322772	223	254	0.156371	1	0	0	0	0	1	0	0	0	--	--		0	A			PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.R1411C|PBRM1_uc003der.2_Missense_Mutation_p.R1379C|PBRM1_uc003det.2_Missense_Mutation_p.R1426C|PBRM1_uc003deu.2_Missense_Mutation_p.R1426C|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.R1411C|PBRM1_uc010hmk.1_Missense_Mutation_p.R1386C|PBRM1_uc003dey.2_Missense_Mutation_p.R1359C|PBRM1_uc003dez.1_Missense_Mutation_p.R1410C	204	GBM-27-2527-TP	p.R1411C	G	CCCACCAGGCGGCTGAGCTCC	NM_181042	NP_060635	52595840	Q86U86	PB1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	25	4243	-	A	A			Missense_Mutation	1411			HMG box.			
PBRM1	55193		GRCh37	3	52598198	52598198	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000394830.3:c.3668A>G	p.Glu1223Gly	p.E1223G	ENST00000394830	NM_018313.4	1223	gAa/gGa	0																																																																																																																																																																																																																																												
PBX2	0	broad.mit.edu	GRCh37	6	32156280	32156280	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T			TCGA-32-1991-01	TCGA-32-1991-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375050.4:c.297C>A	p.Gly99=	p.G99=	ENST00000375050	NM_002586.4	99	ggC/ggA	0		T:0.0045	1	T:0.0029		T	G	uc003oav.1	protein_coding	YES	CCDS4748.1			297/1293									ovary(1)	1	c.(295-297)GGC>GGA			Pfam_domain:PF03792,hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF50	pre-B-cell leukemia homeobox 2		T:0.002		ENSP00000364190	T:0.006	9-Mar	0.000214	0.000561	0.000176		0.000158	0.000142		6.19E-05	rs568374645,COSM1131907	9-Mar	common_variant		ENST00000375050	Transcript		T:0.0048			transcription factor binding	ENSG00000204304	g.chr6:32156280G>T	8633			LOW								--	--	1																																		PBX2_uc003oaw.2_Silent_p.G99G	0,1	1			p.G99G	NM_002586	NP_002577	T:0.0082		0,1	PBX2_HUMAN	PBX2	HGNC	P40425	PBX2_HUMAN					3	568	-			UPI00001313B2	99					SNV	PBX2,splice_region_variant,p.=,ENST00000375050,NM_002586.4;AGER,upstream_gene_variant,,ENST00000375076,NM_001206929.1,NM_001206932.1,NM_001136.4;AGER,upstream_gene_variant,,ENST00000375070,;GPSM3,downstream_gene_variant,,ENST00000375040,NM_001276501.1;GPSM3,downstream_gene_variant,,ENST00000487761,;GPSM3,downstream_gene_variant,,ENST00000375043,NM_022107.1;AGER,upstream_gene_variant,,ENST00000375069,;AGER,upstream_gene_variant,,ENST00000375055,NM_001206954.1,NM_001206934.1,NM_001206936.1,NM_001206940.1,NM_001206966.1;RNF5,downstream_gene_variant,,ENST00000427134,;AGER,upstream_gene_variant,,ENST00000375067,NM_172197.2;AGER,upstream_gene_variant,,ENST00000438221,;AGER,upstream_gene_variant,,ENST00000375065,;AGER,upstream_gene_variant,,ENST00000450110,;AGER,upstream_gene_variant,,ENST00000375056,;AGER,upstream_gene_variant,,ENST00000538695,;XXbac-BPG300A18.13,upstream_gene_variant,,ENST00000559458,;PBX2,splice_region_variant,,ENST00000478678,;PBX2,splice_region_variant,,ENST00000480254,;PBX2,non_coding_transcript_exon_variant,,ENST00000496171,;AGER,upstream_gene_variant,,ENST00000484849,;GPSM3,downstream_gene_variant,,ENST00000472768,;PBX2,upstream_gene_variant,,ENST00000495300,;	uc003oav.1	c.297C>A	568/3211	2	2			c.297C>A						6	SNP	c.(295-297)GGC>GGA	17	17			ovary(1)	1	Broad	pre-B-cell leukemia homeobox 2			32156280		0.612	ENSG00000204304	11301	g.chr6:32156280G>T			transcription factor binding							-7.77175	KEEP	2	3	0.4	35	42	2	3	0.4	7.058624	35	42	0.065789	1	0	0	0	0	0	0	1	0	--	--		0	T			PBX2_uc003oaw.2_Silent_p.G99G	234	GBM-32-1991-TP	p.G99G	G	GAATGCTGAGGCCTAGCATGC	NM_002586	NP_002577	32156280	P40425	PBX2_HUMAN	0			3	568	-	T	T			Silent	99						
PC	0	broad.mit.edu	GRCh37	11	66637883	66637883	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-12-3650-01	TCGA-12-3650-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393955.2:c.793T>G	p.Cys265Gly	p.C265G	ENST00000393955	NM_022172.2	265	Tgc/Ggc	0			1			C	C/G	uc001ojn.1	protein_coding		CCDS8152.1			793/3537									ovary(2)|lung(1)|kidney(1)	4	c.(793-795)TGC>GGC			Superfamily_domains:SSF56059,PIRSF_domain:PIRSF001594,Gene3D:3.30.470.20,Pfam_domain:PF02786,TIGRFAM_domain:TIGR01235,hmmpanther:PTHR18866,PROSITE_profiles:PS50979,PROSITE_profiles:PS50975	pyruvate carboxylase precursor	Biotin(DB00121)|Pyruvic acid(DB00119)			ENSP00000377527		21-Jul									COSM3747898,COSM3747899	21-Jul	.		ENST00000393955	Transcript	1		gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	ENSG00000173599	g.chr11:66637883A>C	8636			MODERATE		4.04	high	getma.org/?cm=msa&ty=f&p=PYC_HUMAN&rb=151&re=360&var=C265G	getma.org/pdb.php?prot=PYC_HUMAN&from=151&to=360&var=C265G	getma.org/?cm=var&var=hg19,11,66637883,A,C&fts=all	C265G	--	--	1																																		PC_uc001ojo.1_Missense_Mutation_p.C265G|PC_uc001ojp.1_Missense_Mutation_p.C265G	1,1			probably_damaging(1)	p.C265G	NM_022172	NP_071504		deleterious(0)	1,1	PYC_HUMAN	PC	HGNC	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	E9PS68_HUMAN		7	842	-		Melanoma(852;0.0525)	UPI0000132BC4	265			ATP-grasp.|Biotin carboxylation.		SNV	PC,missense_variant,p.Cys265Gly,ENST00000393960,NM_001040716.1;PC,missense_variant,p.Cys265Gly,ENST00000393958,NM_000920.3;PC,missense_variant,p.Cys265Gly,ENST00000393955,NM_022172.2;PC,missense_variant,p.Cys225Gly,ENST00000524491,;PC,missense_variant,p.Cys265Gly,ENST00000355677,;PC,downstream_gene_variant,,ENST00000528403,;PC,downstream_gene_variant,,ENST00000531614,;	uc001ojn.1	c.793T>G	874/4004	3	3			c.793T>G						11	SNP	c.(793-795)TGC>GGC	1	1			ovary(2)|lung(1)|kidney(1)	4	Broad	pyruvate carboxylase precursor		Biotin(DB00121)|Pyruvic acid(DB00119)	66637883		0.602	ENSG00000173599	11305	g.chr11:66637883A>C	gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity							68.207836	KEEP	18	13	-1	23	27	18	13	-1	69.216606	23	27	0.365079	1	0	0	0	0	1	0	0	0	--	--		0	C			PC_uc001ojo.1_Missense_Mutation_p.C265G|PC_uc001ojp.1_Missense_Mutation_p.C265G	126	GBM-12-3650-TP	p.C265G	A	TGGATGGAGCAGTCTCGCTCG	NM_022172	NP_071504	66637883	P11498	PYC_HUMAN	0		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	7	842	-	C	C		Melanoma(852;0.0525)	Missense_Mutation	265			ATP-grasp.|Biotin carboxylation.			
PCCA	0	broad.mit.edu	GRCh37	13	100809554	100809554	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-12-0616-01	TCGA-12-0616-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376285.1:c.428A>G	p.Tyr143Cys	p.Y143C	ENST00000376285	NM_000282.3	143	tAt/tGt	0			1			G	Y/C	uc001voo.2	protein_coding	YES	CCDS9496.2			428/2187									skin(2)	2	c.(427-429)TAT>TGT			PROSITE_profiles:PS50979,hmmpanther:PTHR18866:SF33,hmmpanther:PTHR18866,Gene3D:3.40.50.20,Pfam_domain:PF00289,Superfamily_domains:SSF52440	propionyl-Coenzyme A carboxylase, alpha	Biotin(DB00121)			ENSP00000365462		24-Jun									COSM2153584	24-Jun	.		ENST00000376285	Transcript	1		fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	ENSG00000175198	g.chr13:100809554A>G	8653			MODERATE		3.315	medium	getma.org/?cm=msa&ty=f&p=PCCA_HUMAN&rb=62&re=171&var=Y143C	getma.org/pdb.php?prot=PCCA_HUMAN&from=62&to=171&var=Y143C	getma.org/?cm=var&var=hg19,13,100809554,A,G&fts=all	Y143C	--	--	1																																		PCCA_uc010aga.2_Missense_Mutation_p.Y117C|PCCA_uc010tiz.1_Missense_Mutation_p.Y143C	1	1		probably_damaging(0.999)	p.Y143C	NM_000282	NP_000273		deleterious(0)	1	PCCA_HUMAN	PCCA	HGNC	P05165	PCCA_HUMAN					6	466	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		UPI0000070089	143			Biotin carboxylation.		SNV	PCCA,missense_variant,p.Tyr143Cys,ENST00000376285,NM_000282.3;PCCA,missense_variant,p.Tyr117Cys,ENST00000376286,NM_001127692.2;PCCA,missense_variant,p.Tyr143Cys,ENST00000376279,NM_001178004.1;PCCA,non_coding_transcript_exon_variant,,ENST00000485946,;	uc001voo.2	c.428A>G	466/2491	3	3			c.428A>G						13	SNP	c.(427-429)TAT>TGT	1	1			skin(2)	2	Broad	propionyl-Coenzyme A carboxylase, alpha		Biotin(DB00121)	100809554		0.318	ENSG00000175198	11312	g.chr13:100809554A>G	fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity							134.353605	KEEP	18	22	-1	23	16	18	22	-1	134.365794	23	16	0.485714	1	0	0	0	0	1	0	0	0	--	--		0	G			PCCA_uc010aga.2_Missense_Mutation_p.Y117C|PCCA_uc010tiz.1_Missense_Mutation_p.Y143C	118	GBM-12-0616-TP	p.Y143C	A	CATCCAGGTTATGGATTCCTT	NM_000282	NP_000273	100809554	P05165	PCCA_HUMAN	0			6	466	+	G	G	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		Missense_Mutation	143			Biotin carboxylation.			
PCCB	0	broad.mit.edu	GRCh37	3	135980854	135980854	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01	TCGA-16-1045-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251654.4:c.490G>A	p.Ala164Thr	p.A164T	ENST00000251654	NM_000532.4	164	Gca/Aca	0			1			A	A/T	uc003eqy.1	protein_coding		CCDS3089.1			490/1620										0	c.(490-492)GCA>ACA			Superfamily_domains:SSF52096,Gene3D:3.90.226.10,Pfam_domain:PF01039,hmmpanther:PTHR22855:SF14,hmmpanther:PTHR22855,PROSITE_profiles:PS50980	propionyl Coenzyme A carboxylase, beta	Biotin(DB00121)|L-Valine(DB00161)			ENSP00000251654		15-May									COSM3408258	15-May	.		ENST00000251654	Transcript	1		fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity	ENSG00000114054	g.chr3:135980854G>A	8654			MODERATE		4.6	high	getma.org/?cm=msa&ty=f&p=PCCB_HUMAN&rb=57&re=537&var=A164T	getma.org/pdb.php?prot=PCCB_HUMAN&from=57&to=537&var=A164T	getma.org/?cm=var&var=hg19,3,135980854,G,A&fts=all	A164T	--	--	1																																		PCCB_uc003eqz.1_Missense_Mutation_p.A164T|PCCB_uc011bmc.1_Missense_Mutation_p.A184T|PCCB_uc011bmd.1_Missense_Mutation_p.A81T	1			probably_damaging(0.993)	p.A164T	NM_000532	NP_000523		deleterious_low_confidence(0)	1	PCCB_HUMAN	PCCB	HGNC	P05166	PCCB_HUMAN			Q8WVH4_HUMAN,C9JVW9_HUMAN,C9JAW3_HUMAN		5	541	+			UPI000006FE6C	164			Carboxyltransferase.		SNV	PCCB,missense_variant,p.Ala164Thr,ENST00000471595,;PCCB,missense_variant,p.Ala164Thr,ENST00000478469,;PCCB,missense_variant,p.Ala195Thr,ENST00000468777,;PCCB,missense_variant,p.Ala164Thr,ENST00000466072,;PCCB,missense_variant,p.Ala184Thr,ENST00000469217,NM_001178014.1;PCCB,missense_variant,p.Ala164Thr,ENST00000251654,NM_000532.4;PCCB,missense_variant,p.Ala145Thr,ENST00000483687,;PCCB,missense_variant,p.Ala141Thr,ENST00000462637,;PCCB,missense_variant,p.Ala48Thr,ENST00000482086,;PCCB,missense_variant,p.Ala81Thr,ENST00000494742,;PCCB,missense_variant,p.Ala81Thr,ENST00000459873,;PCCB,missense_variant,p.Ala120Thr,ENST00000462542,;PCCB,intron_variant,,ENST00000490504,;PCCB,downstream_gene_variant,,ENST00000465423,;PCCB,non_coding_transcript_exon_variant,,ENST00000465176,;PCCB,intron_variant,,ENST00000474833,;PCCB,missense_variant,p.Ala164Thr,ENST00000484181,;PCCB,non_coding_transcript_exon_variant,,ENST00000473073,;PCCB,non_coding_transcript_exon_variant,,ENST00000475214,;	uc003eqy.1	c.490G>A	560/1833	1	1			c.490G>A						3	SNP	c.(490-492)GCA>ACA	64	64				0	Broad	propionyl Coenzyme A carboxylase, beta		Biotin(DB00121)|L-Valine(DB00161)	135980854		0.458	ENSG00000114054	11313	g.chr3:135980854G>A	fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity							19.849774	KEEP	3	5	-1	3	4	3	5	-1	19.849774	3	4	0.5	1	0	0	0	0	1	0	0	0	--	--		0	A			PCCB_uc003eqz.1_Missense_Mutation_p.A164T|PCCB_uc011bmc.1_Missense_Mutation_p.A184T|PCCB_uc011bmd.1_Missense_Mutation_p.A81T	157	GBM-16-1045-TP	p.A164T	G	CTCTGGGGGAGCACGGATCCA	NM_000532	NP_000523	135980854	P05166	PCCB_HUMAN	0			5	541	+	A	A			Missense_Mutation	164			Carboxyltransferase.			
PCDH10	57575	broad.mit.edu	GRCh37	4	134071967	134071968	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C			TCGA-06-0649-01	TCGA-06-0649-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264360.5:c.679dup	p.Gln227ProfsTer19	p.Q227Pfs*19	ENST00000264360	NM_032961.1	224	-/C	0			1			C	-/X	uc003iha.2	protein_coding	YES	CCDS34063.1			672-673/3123									ovary(2)	2	c.(670-675)CTGCCCfs			Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,hmmpanther:PTHR24028:SF0,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	protocadherin 10 isoform 1 precursor				ENSP00000264360		5-Jan									rs762465989	5-Jan	.		ENST00000264360	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000138650	g.chr4:134071967_134071968insC	13404	7		HIGH								--	--	1																																		uc003igy.2_5'Flank|PCDH10_uc003igz.2_Frame_Shift_Ins_p.L224fs		1			p.L224fs	NM_032961	NP_116586				PCD10_HUMAN	PCDH10	HGNC	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	Q9NSR3_HUMAN		1	1498_1499	+			UPI0000161C61	224_225			Extracellular (Potential).|Cadherin 2.		insertion	PCDH10,frameshift_variant,p.Gln227ProfsTer19,ENST00000264360,NM_032961.1;RP11-9G1.3,upstream_gene_variant,,ENST00000505289,;RP11-9G1.3,upstream_gene_variant,,ENST00000509715,;PCDH10,upstream_gene_variant,,ENST00000511112,;	uc003iha.2	c.672_673insC	1498-1499/8399	5	5			c.672_673insC						4	INS	c.(670-675)CTGCCCfs	13	13			ovary(2)	2	Broad	protocadherin 10 isoform 1 precursor			134071968		0.48	ENSG00000138650	11315	g.chr4:134071967_134071968insC	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding																				0.25	1	0	0	1	1	0	0	0	0	--	--		0	C			uc003igy.2_5'Flank|PCDH10_uc003igz.2_Frame_Shift_Ins_p.L224fs	62	GBM-06-0649-TP	p.L224fs	-	gagcaggCCTGCCCCCCCAGCA	NM_032961	NP_116586	134071967	Q9P2E7	PCD10_HUMAN	0		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1498_1499	+	C	C			Frame_Shift_Ins	224_225			Extracellular (Potential).|Cadherin 2.			
PCDH11X	27328	broad.mit.edu	GRCh37	X	91090731	91090731	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-06-0745-01	TCGA-06-0745-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373094.1:c.228A>T	p.Arg76=	p.R76=	ENST00000373094	NM_032968.3	76	cgA/cgT	0			1			T	R	uc004efk.1	protein_coding	YES	CCDS14461.1			228/4044									large_intestine(2)	2	c.(226-228)CGA>CGT			Pfam_domain:PF08266,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15,PROSITE_profiles:PS50268	protocadherin 11 X-linked isoform c				ENSP00000362186		7-Jan									COSM2151753,COSM3406658,COSM3406657,COSM2151755,COSM2151754	7-Jan	.		ENST00000373094	Transcript			homophilic cell adhesion	integral to plasma membrane	calcium ion binding	ENSG00000102290	g.chrX:91090731A>T	8656			LOW								--	--	1																																		PCDH11X_uc004efl.1_Silent_p.R76R|PCDH11X_uc004efo.1_Silent_p.R76R|PCDH11X_uc010nmv.1_Silent_p.R76R|PCDH11X_uc004efm.1_Silent_p.R76R|PCDH11X_uc004efn.1_Silent_p.R76R|PCDH11X_uc004efh.1_Silent_p.R76R|PCDH11X_uc004efj.1_Silent_p.R76R	1,1,1,1,1	1			p.R76R	NM_032968	NP_116750			1,1,1,1,1	PC11X_HUMAN	PCDH11X	HGNC	Q9BZA7	PC11X_HUMAN			Q70LT5_HUMAN,Q70LT4_HUMAN		1	1073	+			UPI0000070BD8	76			Extracellular (Potential).|Cadherin 1.		SNV	PCDH11X,synonymous_variant,p.=,ENST00000373094,NM_032968.3;PCDH11X,synonymous_variant,p.=,ENST00000373097,NM_032969.3;PCDH11X,synonymous_variant,p.=,ENST00000395337,NM_032967.2;PCDH11X,synonymous_variant,p.=,ENST00000361724,NM_014522.1;PCDH11X,synonymous_variant,p.=,ENST00000373088,NM_001168362.1;PCDH11X,synonymous_variant,p.=,ENST00000406881,NM_001168360.1;PCDH11X,synonymous_variant,p.=,ENST00000504220,NM_001168361.1;PCDH11X,synonymous_variant,p.=,ENST00000361655,NM_001168363.1;PCDH11X,synonymous_variant,p.=,ENST00000298274,;	uc004efk.1	c.228A>T	1073/9176	1	1			c.228A>T						23	SNP	c.(226-228)CGA>CGT	3	3			large_intestine(2)	2	Broad	protocadherin 11 X-linked isoform c			91090731		0.443	ENSG00000102290	11316	g.chrX:91090731A>T	homophilic cell adhesion	integral to plasma membrane	calcium ion binding	NSCLC(38;925 1092 2571 38200 45895)			NSCLC(38;925 1092 2571 38200 45895)			306.981911	KEEP	65	44	-1	19	12	65	44	-1	316.059776	19	12	0.785124	1	0	0	0	0	0	0	1	0	--	--		0	T			PCDH11X_uc004efl.1_Silent_p.R76R|PCDH11X_uc004efo.1_Silent_p.R76R|PCDH11X_uc010nmv.1_Silent_p.R76R|PCDH11X_uc004efm.1_Silent_p.R76R|PCDH11X_uc004efn.1_Silent_p.R76R|PCDH11X_uc004efh.1_Silent_p.R76R|PCDH11X_uc004efj.1_Silent_p.R76R	67	GBM-06-0745-TP	p.R76R	A	CACTGATTCGAATTGAAGAGG	NM_032968	NP_116750	91090731	Q9BZA7	PC11X_HUMAN	0			1	1073	+	T	T			Silent	76			Extracellular (Potential).|Cadherin 1.			
PCDH11X	27328	broad.mit.edu	GRCh37	X	91132696	91132696	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs62621113		TCGA-06-0750-01	TCGA-06-0750-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373094.1:c.1457C>T	p.Thr486Met	p.T486M	ENST00000373094	NM_032968.3	486	aCg/aTg	0			1			T	T/M	uc004efk.1	protein_coding	YES	CCDS14461.1			1457/4044									large_intestine(2)	2	c.(1456-1458)ACG>ATG			Prints_domain:PR00205,Superfamily_domains:SSF49313,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15,PROSITE_profiles:PS50268	protocadherin 11 X-linked isoform c				ENSP00000362186		7-Feb	8.24E-06			0.000151					rs62621113,COSM1600158,COSM3406662,COSM3406661,COSM1600160,COSM1600159	7-Feb	.		ENST00000373094	Transcript			homophilic cell adhesion	integral to plasma membrane	calcium ion binding	ENSG00000102290	g.chrX:91132696C>T	8656			MODERATE		1.305	low	getma.org/?cm=msa&ty=f&p=PC11X_HUMAN&rb=471&re=561&var=T486M	getma.org/pdb.php?prot=PC11X_HUMAN&from=471&to=561&var=T486M	getma.org/?cm=var&var=hg19,X,91132696,C,T&fts=all	T486M	--	--	1																																		PCDH11X_uc004efl.1_Missense_Mutation_p.T486M|PCDH11X_uc004efo.1_Missense_Mutation_p.T486M|PCDH11X_uc010nmv.1_Missense_Mutation_p.T486M|PCDH11X_uc004efm.1_Missense_Mutation_p.T486M|PCDH11X_uc004efn.1_Missense_Mutation_p.T486M|PCDH11X_uc004efh.1_Missense_Mutation_p.T486M|PCDH11X_uc004efj.1_Missense_Mutation_p.T486M	0,1,1,1,1,1	1		probably_damaging(0.994)	p.T486M	NM_032968	NP_116750		tolerated(0.12)	0,1,1,1,1,1	PC11X_HUMAN	PCDH11X	HGNC	Q9BZA7	PC11X_HUMAN			Q70LT5_HUMAN,Q70LT4_HUMAN		2	2302	+			UPI0000070BD8	486			Cadherin 5.|Extracellular (Potential).		SNV	PCDH11X,missense_variant,p.Thr486Met,ENST00000373094,NM_032968.3;PCDH11X,missense_variant,p.Thr486Met,ENST00000373097,NM_032969.3;PCDH11X,missense_variant,p.Thr486Met,ENST00000395337,NM_032967.2;PCDH11X,missense_variant,p.Thr486Met,ENST00000361724,NM_014522.1;PCDH11X,missense_variant,p.Thr486Met,ENST00000373088,NM_001168362.1;PCDH11X,missense_variant,p.Thr486Met,ENST00000406881,NM_001168360.1;PCDH11X,missense_variant,p.Thr486Met,ENST00000504220,NM_001168361.1;PCDH11X,missense_variant,p.Thr486Met,ENST00000361655,NM_001168363.1;PCDH11X,missense_variant,p.Thr486Met,ENST00000298274,;	uc004efk.1	c.1457C>T	2302/9176	2	2			c.1457C>T						23	SNP	c.(1456-1458)ACG>ATG	32	32			large_intestine(2)	2	Broad	protocadherin 11 X-linked isoform c			91132696		0.438	ENSG00000102290	11316	g.chrX:91132696C>T	homophilic cell adhesion	integral to plasma membrane	calcium ion binding	NSCLC(38;925 1092 2571 38200 45895)			NSCLC(38;925 1092 2571 38200 45895)			-4.620159	KEEP	4	7	-1	50	38	4	7	-1	12.626123	50	38	0.067416	1	0	0	0	0	1	0	0	0	--	--		0	T			PCDH11X_uc004efl.1_Missense_Mutation_p.T486M|PCDH11X_uc004efo.1_Missense_Mutation_p.T486M|PCDH11X_uc010nmv.1_Missense_Mutation_p.T486M|PCDH11X_uc004efm.1_Missense_Mutation_p.T486M|PCDH11X_uc004efn.1_Missense_Mutation_p.T486M|PCDH11X_uc004efh.1_Missense_Mutation_p.T486M|PCDH11X_uc004efj.1_Missense_Mutation_p.T486M	70	GBM-06-0750-TP	p.T486M	C	ATCCAGTTGACGAAAGTAAGT	NM_032968	NP_116750	91132696	Q9BZA7	PC11X_HUMAN	0			2	2302	+	T	T			Missense_Mutation	486			Cadherin 5.|Extracellular (Potential).			
PCDH11X	27328	broad.mit.edu	GRCh37	X	91132696	91132696	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs62621113		TCGA-06-2558-01	TCGA-06-2558-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373094.1:c.1457C>T	p.Thr486Met	p.T486M	ENST00000373094	NM_032968.3	486	aCg/aTg	0			1			T	T/M	uc004efk.1	protein_coding	YES	CCDS14461.1			1457/4044									large_intestine(2)	2	c.(1456-1458)ACG>ATG			Prints_domain:PR00205,Superfamily_domains:SSF49313,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15,PROSITE_profiles:PS50268	protocadherin 11 X-linked isoform c				ENSP00000362186		7-Feb	8.24E-06			0.000151					rs62621113,COSM1600158,COSM3406662,COSM3406661,COSM1600160,COSM1600159	7-Feb	.		ENST00000373094	Transcript			homophilic cell adhesion	integral to plasma membrane	calcium ion binding	ENSG00000102290	g.chrX:91132696C>T	8656			MODERATE		1.305	low	getma.org/?cm=msa&ty=f&p=PC11X_HUMAN&rb=471&re=561&var=T486M	getma.org/pdb.php?prot=PC11X_HUMAN&from=471&to=561&var=T486M	getma.org/?cm=var&var=hg19,X,91132696,C,T&fts=all	T486M	--	--	1																																		PCDH11X_uc004efl.1_Missense_Mutation_p.T486M|PCDH11X_uc004efo.1_Missense_Mutation_p.T486M|PCDH11X_uc010nmv.1_Missense_Mutation_p.T486M|PCDH11X_uc004efm.1_Missense_Mutation_p.T486M|PCDH11X_uc004efn.1_Missense_Mutation_p.T486M|PCDH11X_uc004efh.1_Missense_Mutation_p.T486M|PCDH11X_uc004efj.1_Missense_Mutation_p.T486M	0,1,1,1,1,1	1		probably_damaging(0.994)	p.T486M	NM_032968	NP_116750		tolerated(0.12)	0,1,1,1,1,1	PC11X_HUMAN	PCDH11X	HGNC	Q9BZA7	PC11X_HUMAN			Q70LT5_HUMAN,Q70LT4_HUMAN		2	2302	+			UPI0000070BD8	486			Cadherin 5.|Extracellular (Potential).		SNV	PCDH11X,missense_variant,p.Thr486Met,ENST00000373094,NM_032968.3;PCDH11X,missense_variant,p.Thr486Met,ENST00000373097,NM_032969.3;PCDH11X,missense_variant,p.Thr486Met,ENST00000395337,NM_032967.2;PCDH11X,missense_variant,p.Thr486Met,ENST00000361724,NM_014522.1;PCDH11X,missense_variant,p.Thr486Met,ENST00000373088,NM_001168362.1;PCDH11X,missense_variant,p.Thr486Met,ENST00000406881,NM_001168360.1;PCDH11X,missense_variant,p.Thr486Met,ENST00000504220,NM_001168361.1;PCDH11X,missense_variant,p.Thr486Met,ENST00000361655,NM_001168363.1;PCDH11X,missense_variant,p.Thr486Met,ENST00000298274,;	uc004efk.1	c.1457C>T	2302/9176	2	2			c.1457C>T						23	SNP	c.(1456-1458)ACG>ATG	32	32			large_intestine(2)	2	Broad	protocadherin 11 X-linked isoform c			91132696		0.438	ENSG00000102290	11316	g.chrX:91132696C>T	homophilic cell adhesion	integral to plasma membrane	calcium ion binding	NSCLC(38;925 1092 2571 38200 45895)			NSCLC(38;925 1092 2571 38200 45895)			65.320615	KEEP	16	32	-1	77	79	16	32	-1	83.804872	77	79	0.171271	1	0	0	0	0	1	0	0	0	--	--		0	T			PCDH11X_uc004efl.1_Missense_Mutation_p.T486M|PCDH11X_uc004efo.1_Missense_Mutation_p.T486M|PCDH11X_uc010nmv.1_Missense_Mutation_p.T486M|PCDH11X_uc004efm.1_Missense_Mutation_p.T486M|PCDH11X_uc004efn.1_Missense_Mutation_p.T486M|PCDH11X_uc004efh.1_Missense_Mutation_p.T486M|PCDH11X_uc004efj.1_Missense_Mutation_p.T486M	82	GBM-06-2558-TP	p.T486M	C	ATCCAGTTGACGAAAGTAAGT	NM_032968	NP_116750	91132696	Q9BZA7	PC11X_HUMAN	0			2	2302	+	T	T			Missense_Mutation	486			Cadherin 5.|Extracellular (Potential).			
PCDH11X	27328	broad.mit.edu	GRCh37	X	91132792	91132792	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01	TCGA-06-2559-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373094.1:c.1553G>A	p.Arg518His	p.R518H	ENST00000373094	NM_032968.3	518	cGt/cAt	0			1			A	R/H	uc004efk.1	protein_coding	YES	CCDS14461.1			1553/4044									large_intestine(2)	2	c.(1552-1554)CGT>CAT			Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15,PROSITE_profiles:PS50268	protocadherin 11 X-linked isoform c				ENSP00000362186		7-Feb	1.65E-05	0.000118							rs772498943,COSM2152698,COSM3406666,COSM3406665,COSM2152700,COSM2152699	7-Feb	.		ENST00000373094	Transcript			homophilic cell adhesion	integral to plasma membrane	calcium ion binding	ENSG00000102290	g.chrX:91132792G>A	8656			MODERATE		0.61	neutral	getma.org/?cm=msa&ty=f&p=PC11X_HUMAN&rb=471&re=561&var=R518H	getma.org/pdb.php?prot=PC11X_HUMAN&from=471&to=561&var=R518H	getma.org/?cm=var&var=hg19,X,91132792,G,A&fts=all	R518H	--	--	1																																		PCDH11X_uc004efl.1_Missense_Mutation_p.R518H|PCDH11X_uc004efo.1_Missense_Mutation_p.R518H|PCDH11X_uc010nmv.1_Missense_Mutation_p.R518H|PCDH11X_uc004efm.1_Missense_Mutation_p.R518H|PCDH11X_uc004efn.1_Missense_Mutation_p.R518H|PCDH11X_uc004efh.1_Missense_Mutation_p.R518H|PCDH11X_uc004efj.1_Missense_Mutation_p.R518H	0,1,1,1,1,1	1		benign(0.031)	p.R518H	NM_032968	NP_116750		tolerated(0.14)	0,1,1,1,1,1	PC11X_HUMAN	PCDH11X	HGNC	Q9BZA7	PC11X_HUMAN			Q70LT5_HUMAN,Q70LT4_HUMAN		2	2398	+			UPI0000070BD8	518			Cadherin 5.|Extracellular (Potential).		SNV	PCDH11X,missense_variant,p.Arg518His,ENST00000373094,NM_032968.3;PCDH11X,missense_variant,p.Arg518His,ENST00000373097,NM_032969.3;PCDH11X,missense_variant,p.Arg518His,ENST00000395337,NM_032967.2;PCDH11X,missense_variant,p.Arg518His,ENST00000361724,NM_014522.1;PCDH11X,missense_variant,p.Arg518His,ENST00000373088,NM_001168362.1;PCDH11X,missense_variant,p.Arg518His,ENST00000406881,NM_001168360.1;PCDH11X,missense_variant,p.Arg518His,ENST00000504220,NM_001168361.1;PCDH11X,missense_variant,p.Arg518His,ENST00000361655,NM_001168363.1;PCDH11X,missense_variant,p.Arg518His,ENST00000298274,;	uc004efk.1	c.1553G>A	2398/9176	1	1			c.1553G>A						23	SNP	c.(1552-1554)CGT>CAT	55	55			large_intestine(2)	2	Broad	protocadherin 11 X-linked isoform c			91132792		0.433	ENSG00000102290	11316	g.chrX:91132792G>A	homophilic cell adhesion	integral to plasma membrane	calcium ion binding	NSCLC(38;925 1092 2571 38200 45895)			NSCLC(38;925 1092 2571 38200 45895)			206.946985	KEEP	36	26	-1	7	4	36	26	-1	215.553153	7	4	0.857143	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDH11X_uc004efl.1_Missense_Mutation_p.R518H|PCDH11X_uc004efo.1_Missense_Mutation_p.R518H|PCDH11X_uc010nmv.1_Missense_Mutation_p.R518H|PCDH11X_uc004efm.1_Missense_Mutation_p.R518H|PCDH11X_uc004efn.1_Missense_Mutation_p.R518H|PCDH11X_uc004efh.1_Missense_Mutation_p.R518H|PCDH11X_uc004efj.1_Missense_Mutation_p.R518H	83	GBM-06-2559-TP	p.R518H	G	CTGGATTGTCGTACAGGCATG	NM_032968	NP_116750	91132792	Q9BZA7	PC11X_HUMAN	0			2	2398	+	A	A			Missense_Mutation	518			Cadherin 5.|Extracellular (Potential).			
PCDH11X	0	broad.mit.edu	GRCh37	X	91132704	91132704	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-12-0692-01	TCGA-12-0692-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373094.1:c.1465A>T	p.Ser489Cys	p.S489C	ENST00000373094	NM_032968.3	489	Agt/Tgt	0			1			T	S/C	uc004efk.1	protein_coding	YES	CCDS14461.1			1465/4044									large_intestine(2)	2	c.(1465-1467)AGT>TGT			Prints_domain:PR00205,Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15,PROSITE_profiles:PS50268	protocadherin 11 X-linked isoform c				ENSP00000362186		7-Feb									COSM2154303,COSM3406664,COSM3406663,COSM2154305,COSM2154304	7-Feb	.		ENST00000373094	Transcript			homophilic cell adhesion	integral to plasma membrane	calcium ion binding	ENSG00000102290	g.chrX:91132704A>T	8656			MODERATE		2.865	medium	getma.org/?cm=msa&ty=f&p=PC11X_HUMAN&rb=471&re=561&var=S489C	getma.org/pdb.php?prot=PC11X_HUMAN&from=471&to=561&var=S489C	getma.org/?cm=var&var=hg19,X,91132704,A,T&fts=all	S489C	--	--	1																																		PCDH11X_uc004efl.1_Missense_Mutation_p.S489C|PCDH11X_uc004efo.1_Missense_Mutation_p.S489C|PCDH11X_uc010nmv.1_Missense_Mutation_p.S489C|PCDH11X_uc004efm.1_Missense_Mutation_p.S489C|PCDH11X_uc004efn.1_Missense_Mutation_p.S489C|PCDH11X_uc004efh.1_Missense_Mutation_p.S489C|PCDH11X_uc004efj.1_Missense_Mutation_p.S489C	1,1,1,1,1	1		probably_damaging(0.998)	p.S489C	NM_032968	NP_116750		deleterious(0.04)	1,1,1,1,1	PC11X_HUMAN	PCDH11X	HGNC	Q9BZA7	PC11X_HUMAN			Q70LT5_HUMAN,Q70LT4_HUMAN		2	2310	+			UPI0000070BD8	489			Cadherin 5.|Extracellular (Potential).		SNV	PCDH11X,missense_variant,p.Ser489Cys,ENST00000373094,NM_032968.3;PCDH11X,missense_variant,p.Ser489Cys,ENST00000373097,NM_032969.3;PCDH11X,missense_variant,p.Ser489Cys,ENST00000395337,NM_032967.2;PCDH11X,missense_variant,p.Ser489Cys,ENST00000361724,NM_014522.1;PCDH11X,missense_variant,p.Ser489Cys,ENST00000373088,NM_001168362.1;PCDH11X,missense_variant,p.Ser489Cys,ENST00000406881,NM_001168360.1;PCDH11X,missense_variant,p.Ser489Cys,ENST00000504220,NM_001168361.1;PCDH11X,missense_variant,p.Ser489Cys,ENST00000361655,NM_001168363.1;PCDH11X,missense_variant,p.Ser489Cys,ENST00000298274,;	uc004efk.1	c.1465A>T	2310/9176	2	2			c.1465A>T						23	SNP	c.(1465-1467)AGT>TGT	30	30			large_intestine(2)	2	Broad	protocadherin 11 X-linked isoform c			91132704		0.453	ENSG00000102290	11316	g.chrX:91132704A>T	homophilic cell adhesion	integral to plasma membrane	calcium ion binding	NSCLC(38;925 1092 2571 38200 45895)			NSCLC(38;925 1092 2571 38200 45895)			144.363639	KEEP	27	22	-1	55	32	27	22	-1	146.318507	55	32	0.369231	1	0	0	0	0	1	0	0	0	--	--		0	T			PCDH11X_uc004efl.1_Missense_Mutation_p.S489C|PCDH11X_uc004efo.1_Missense_Mutation_p.S489C|PCDH11X_uc010nmv.1_Missense_Mutation_p.S489C|PCDH11X_uc004efm.1_Missense_Mutation_p.S489C|PCDH11X_uc004efn.1_Missense_Mutation_p.S489C|PCDH11X_uc004efh.1_Missense_Mutation_p.S489C|PCDH11X_uc004efj.1_Missense_Mutation_p.S489C	122	GBM-12-0692-TP	p.S489C	A	GACGAAAGTAAGTGCAATGGA	NM_032968	NP_116750	91132704	Q9BZA7	PC11X_HUMAN	0			2	2310	+	T	T			Missense_Mutation	489			Cadherin 5.|Extracellular (Potential).			
PCDH11X	0	broad.mit.edu	GRCh37	X	91133526	91133526	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-16-0846-01	TCGA-16-0846-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373094.1:c.2287T>A	p.Phe763Ile	p.F763I	ENST00000373094	NM_032968.3	763	Ttc/Atc	0			1			A	F/I	uc004efk.1	protein_coding	YES	CCDS14461.1			2287/4044									large_intestine(2)	2	c.(2287-2289)TTC>ATC			Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15,PROSITE_profiles:PS50268	protocadherin 11 X-linked isoform c				ENSP00000362186		7-Feb									COSM3406674,COSM3406678,COSM3406677,COSM3406676,COSM3406675	7-Feb	.		ENST00000373094	Transcript			homophilic cell adhesion	integral to plasma membrane	calcium ion binding	ENSG00000102290	g.chrX:91133526T>A	8656			MODERATE		0.055	neutral	getma.org/?cm=msa&ty=f&p=PC11X_HUMAN&rb=682&re=773&var=F763I	getma.org/pdb.php?prot=PC11X_HUMAN&from=682&to=773&var=F763I	getma.org/?cm=var&var=hg19,X,91133526,T,A&fts=all	F763I	--	--	1																																		PCDH11X_uc004efl.1_Missense_Mutation_p.F763I|PCDH11X_uc004efo.1_Missense_Mutation_p.F763I|PCDH11X_uc010nmv.1_Missense_Mutation_p.F763I|PCDH11X_uc004efm.1_Missense_Mutation_p.F763I|PCDH11X_uc004efn.1_Missense_Mutation_p.F763I|PCDH11X_uc004efh.1_Missense_Mutation_p.F763I|PCDH11X_uc004efj.1_Missense_Mutation_p.F763I	1,1,1,1,1	1		possibly_damaging(0.698)	p.F763I	NM_032968	NP_116750		tolerated(0.16)	1,1,1,1,1	PC11X_HUMAN	PCDH11X	HGNC	Q9BZA7	PC11X_HUMAN			Q70LT5_HUMAN,Q70LT4_HUMAN		2	3132	+			UPI0000070BD8	763			Cadherin 7.|Extracellular (Potential).		SNV	PCDH11X,missense_variant,p.Phe763Ile,ENST00000373094,NM_032968.3;PCDH11X,missense_variant,p.Phe763Ile,ENST00000373097,NM_032969.3;PCDH11X,missense_variant,p.Phe763Ile,ENST00000395337,NM_032967.2;PCDH11X,missense_variant,p.Phe763Ile,ENST00000361724,NM_014522.1;PCDH11X,missense_variant,p.Phe763Ile,ENST00000373088,NM_001168362.1;PCDH11X,missense_variant,p.Phe763Ile,ENST00000406881,NM_001168360.1;PCDH11X,missense_variant,p.Phe763Ile,ENST00000504220,NM_001168361.1;PCDH11X,missense_variant,p.Phe763Ile,ENST00000361655,NM_001168363.1;PCDH11X,missense_variant,p.Phe763Ile,ENST00000298274,;	uc004efk.1	c.2287T>A	3132/9176	1	1			c.2287T>A						23	SNP	c.(2287-2289)TTC>ATC	63	63			large_intestine(2)	2	Broad	protocadherin 11 X-linked isoform c			91133526		0.433	ENSG00000102290	11316	g.chrX:91133526T>A	homophilic cell adhesion	integral to plasma membrane	calcium ion binding	NSCLC(38;925 1092 2571 38200 45895)			NSCLC(38;925 1092 2571 38200 45895)			195.663606	KEEP	57	29	-1	31	30	57	29	-1	201.736125	31	30	0.797297	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDH11X_uc004efl.1_Missense_Mutation_p.F763I|PCDH11X_uc004efo.1_Missense_Mutation_p.F763I|PCDH11X_uc010nmv.1_Missense_Mutation_p.F763I|PCDH11X_uc004efm.1_Missense_Mutation_p.F763I|PCDH11X_uc004efn.1_Missense_Mutation_p.F763I|PCDH11X_uc004efh.1_Missense_Mutation_p.F763I|PCDH11X_uc004efj.1_Missense_Mutation_p.F763I	155	GBM-16-0846-TP	p.F763I	T	TGATTCTCTCTTCAGTGTTGT	NM_032968	NP_116750	91133526	Q9BZA7	PC11X_HUMAN	0			2	3132	+	A	A			Missense_Mutation	763			Cadherin 7.|Extracellular (Potential).			
PCDH11X	0	broad.mit.edu	GRCh37	X	91133162	91133162	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373094.1:c.1923C>A	p.Phe641Leu	p.F641L	ENST00000373094	NM_032968.3	641	ttC/ttA	0			1			A	F/L	uc004efk.1	protein_coding	YES	CCDS14461.1			1923/4044									large_intestine(2)	2	c.(1921-1923)TTC>TTA			Prints_domain:PR00205,Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15,PROSITE_profiles:PS50268	protocadherin 11 X-linked isoform c				ENSP00000362186		7-Feb									COSM3406669,COSM3406673,COSM3406672,COSM3406671,COSM3406670	7-Feb	.		ENST00000373094	Transcript			homophilic cell adhesion	integral to plasma membrane	calcium ion binding	ENSG00000102290	g.chrX:91133162C>A	8656			MODERATE		-0.205	neutral	getma.org/?cm=msa&ty=f&p=PC11X_HUMAN&rb=575&re=664&var=F641L	getma.org/pdb.php?prot=PC11X_HUMAN&from=575&to=664&var=F641L	getma.org/?cm=var&var=hg19,X,91133162,C,A&fts=all	F641L	--	--	1																																		PCDH11X_uc004efl.1_Missense_Mutation_p.F641L|PCDH11X_uc004efo.1_Missense_Mutation_p.F641L|PCDH11X_uc010nmv.1_Missense_Mutation_p.F641L|PCDH11X_uc004efm.1_Missense_Mutation_p.F641L|PCDH11X_uc004efn.1_Missense_Mutation_p.F641L|PCDH11X_uc004efh.1_Missense_Mutation_p.F641L|PCDH11X_uc004efj.1_Missense_Mutation_p.F641L	1,1,1,1,1	1		possibly_damaging(0.823)	p.F641L	NM_032968	NP_116750		tolerated(0.2)	1,1,1,1,1	PC11X_HUMAN	PCDH11X	HGNC	Q9BZA7	PC11X_HUMAN			Q70LT5_HUMAN,Q70LT4_HUMAN		2	2768	+			UPI0000070BD8	641			Extracellular (Potential).|Cadherin 6.		SNV	PCDH11X,missense_variant,p.Phe641Leu,ENST00000373094,NM_032968.3;PCDH11X,missense_variant,p.Phe641Leu,ENST00000373097,NM_032969.3;PCDH11X,missense_variant,p.Phe641Leu,ENST00000395337,NM_032967.2;PCDH11X,missense_variant,p.Phe641Leu,ENST00000361724,NM_014522.1;PCDH11X,missense_variant,p.Phe641Leu,ENST00000373088,NM_001168362.1;PCDH11X,missense_variant,p.Phe641Leu,ENST00000406881,NM_001168360.1;PCDH11X,missense_variant,p.Phe641Leu,ENST00000504220,NM_001168361.1;PCDH11X,missense_variant,p.Phe641Leu,ENST00000361655,NM_001168363.1;PCDH11X,missense_variant,p.Phe641Leu,ENST00000298274,;	uc004efk.1	c.1923C>A	2768/9176	1	1			c.1923C>A						23	SNP	c.(1921-1923)TTC>TTA	62	62			large_intestine(2)	2	Broad	protocadherin 11 X-linked isoform c			91133162		0.363	ENSG00000102290	11316	g.chrX:91133162C>A	homophilic cell adhesion	integral to plasma membrane	calcium ion binding	NSCLC(38;925 1092 2571 38200 45895)			NSCLC(38;925 1092 2571 38200 45895)			62.804026	KEEP	26	14	0.35	73	47	26	14	0.35	66.715	73	47	0.282609	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDH11X_uc004efl.1_Missense_Mutation_p.F641L|PCDH11X_uc004efo.1_Missense_Mutation_p.F641L|PCDH11X_uc010nmv.1_Missense_Mutation_p.F641L|PCDH11X_uc004efm.1_Missense_Mutation_p.F641L|PCDH11X_uc004efn.1_Missense_Mutation_p.F641L|PCDH11X_uc004efh.1_Missense_Mutation_p.F641L|PCDH11X_uc004efj.1_Missense_Mutation_p.F641L	159	GBM-19-1390-TP	p.F641L	C	CTTACACTTTCTATGTAAAGG	NM_032968	NP_116750	91133162	Q9BZA7	PC11X_HUMAN	0			2	2768	+	A	A			Missense_Mutation	641			Extracellular (Potential).|Cadherin 6.			
PCDH11X	27328		GRCh37	X	91133806	91133806	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000373094.1:c.2567C>T	p.Thr856Ile	p.T856I	ENST00000373094	NM_032968.3	856	aCc/aTc	0																																																																																																																																																																																																																																												
PCDH11Y	83259	broad.mit.edu	GRCh37	Y	4967730	4967730	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0644-01	TCGA-06-0644-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000362095.5:c.2114del	p.Phe705SerfsTer26	p.F705Sfs*26	ENST00000362095	NM_032972.2	704	gTt/gt	0			1			-	V/X	uc004fqo.2	protein_coding					2048/3960										0	c.(2110-2112)GTTfs			PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15,Gene3D:2.60.40.60,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,Prints_domain:PR00205	protocadherin 11 Y-linked isoform c				ENSP00000383306		5-Feb									COSM2151218,COSM2151217,COSM2151219	5-Feb	.		ENST00000400457	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000099715	g.chrY:4967730delT	15813	3		HIGH								--	--	1																																		PCDH11Y_uc010nwg.1_Frame_Shift_Del_p.V693fs|PCDH11Y_uc004fql.1_Frame_Shift_Del_p.V693fs|PCDH11Y_uc004fqm.1_Frame_Shift_Del_p.V693fs|PCDH11Y_uc004fqn.1_Frame_Shift_Del_p.V704fs|PCDH11Y_uc004fqp.1_Frame_Shift_Del_p.V475fs	1,1,1				p.V704fs	NM_032973	NP_116755			1,1,1		PCDH11Y	HGNC	Q9BZA8	PC11Y_HUMAN			Q70LR5_HUMAN,Q70LR4_HUMAN		2	2845	+			UPI000059DC01	704			Extracellular (Potential).|Cadherin 6.		deletion	PCDH11Y,frameshift_variant,p.Phe684SerfsTer26,ENST00000400457,NM_032973.2;PCDH11Y,frameshift_variant,p.Phe694SerfsTer26,ENST00000333703,NM_032971.2,NM_001278619.1;PCDH11Y,frameshift_variant,p.Phe705SerfsTer26,ENST00000362095,NM_032972.2;PCDH11Y,frameshift_variant,p.Phe705SerfsTer26,ENST00000215473,;	uc004fqo.2	c.2111delT	2046/8240	5	5			c.2111delT						24	DEL	c.(2110-2112)GTTfs	47	47				0	Broad	protocadherin 11 Y-linked isoform c			4967730		0.403	ENSG00000099715	11317	g.chrY:4967730delT	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding																				0.62	1	1	0	1	0	0	0	0	0	--	--		0	-			PCDH11Y_uc010nwg.1_Frame_Shift_Del_p.V693fs|PCDH11Y_uc004fql.1_Frame_Shift_Del_p.V693fs|PCDH11Y_uc004fqm.1_Frame_Shift_Del_p.V693fs|PCDH11Y_uc004fqn.1_Frame_Shift_Del_p.V704fs|PCDH11Y_uc004fqp.1_Frame_Shift_Del_p.V475fs	58	GBM-06-0644-TP	p.V704fs	T	AACAAACCAGTTTTCATTGTC	NM_032973	NP_116755	4967730	Q9BZA8	PC11Y_HUMAN	0			2	2845	+	-	-			Frame_Shift_Del	704			Extracellular (Potential).|Cadherin 6.			
PCDH11Y	83259	broad.mit.edu	GRCh37	Y	5605460	5605460	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0743-01	TCGA-06-0743-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000215473.6:c.3500G>T	p.Ser1167Ile	p.S1167I	ENST00000215473		1167	aGc/aTc	0			1			T	S/I	uc004fqo.2	protein_coding					3437/3960										0	c.(3499-3501)AGC>ATC			Low_complexity_(Seg):seg,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15	protocadherin 11 Y-linked isoform c				ENSP00000383306		5-May									COSM3408058	5-May	.		ENST00000400457	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000099715	g.chrY:5605460G>T	15813			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=PC11Y_HUMAN&rb=1161&re=1259&var=S1167I	NA	getma.org/?cm=var&var=hg19,Y,5605460,G,T&fts=all	S1167I	--	--	1																																			1	1		probably_damaging(0.992)	p.S1167I	NM_032973	NP_116755		deleterious_low_confidence(0)	1		PCDH11Y	HGNC	Q9BZA8	PC11Y_HUMAN			Q70LR5_HUMAN,Q70LR4_HUMAN		5	4234	+			UPI000059DC01	1167			Cytoplasmic (Potential).		SNV	PCDH11Y,missense_variant,p.Ser1146Ile,ENST00000400457,NM_032973.2;PCDH11Y,missense_variant,p.Ser1167Ile,ENST00000215473,;	uc004fqo.2	c.3500G>T	3435/8240	2	2			c.3500G>T						24	SNP	c.(3499-3501)AGC>ATC	17	17				0	Broad	protocadherin 11 Y-linked isoform c			5605460		0.552	ENSG00000099715	11317	g.chrY:5605460G>T	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							86.134569	KEEP	13	17	0.433333333	5	9	13	17	0.433333333	87.641886	5	9	0.710526	1	0	0	0	0	1	0	0	0	--	--		0	T				65	GBM-06-0743-TP	p.S1167I	G	CTATGCCACAGCCCACCACTG	NM_032973	NP_116755	5605460	Q9BZA8	PC11Y_HUMAN	0			5	4234	+	T	T			Missense_Mutation	1167			Cytoplasmic (Potential).			
PCDH11Y	83259	broad.mit.edu	GRCh37	Y	5605524	5605524	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-0747-01	TCGA-06-0747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000215473.6:c.3564C>A	p.Leu1188=	p.L1188=	ENST00000215473		1188	ctC/ctA	0			1			A	L	uc004fqo.2	protein_coding					3501/3960										0	c.(3562-3564)CTC>CTA			hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15	protocadherin 11 Y-linked isoform c				ENSP00000383306		5-May									COSM3408059	5-May	.		ENST00000400457	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000099715	g.chrY:5605524C>A	15813			LOW								--	--	1																																			1	1			p.L1188L	NM_032973	NP_116755			1		PCDH11Y	HGNC	Q9BZA8	PC11Y_HUMAN			Q70LR5_HUMAN,Q70LR4_HUMAN		5	4298	+			UPI000059DC01	1188			Cytoplasmic (Potential).		SNV	PCDH11Y,synonymous_variant,p.=,ENST00000400457,NM_032973.2;PCDH11Y,synonymous_variant,p.=,ENST00000215473,;	uc004fqo.2	c.3564C>A	3499/8240	2	2			c.3564C>A						24	SNP	c.(3562-3564)CTC>CTA	26	26				0	Broad	protocadherin 11 Y-linked isoform c			5605524		0.582	ENSG00000099715	11317	g.chrY:5605524C>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							376.902652	KEEP	46	90	0.661764706	7	7	46	90	0.661764706	400.44271	7	7	0.922481	1	0	0	0	0	0	0	1	0	--	--		0	A				68	GBM-06-0747-TP	p.L1188L	C	CCATTGTTCTCTGCCACAGCC	NM_032973	NP_116755	5605524	Q9BZA8	PC11Y_HUMAN	0			5	4298	+	A	A			Silent	1188			Cytoplasmic (Potential).			
PCDH11Y	83259	broad.mit.edu	GRCh37	Y	4968500	4968500	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0750-01	TCGA-06-0750-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000362095.5:c.2881A>G	p.Lys961Glu	p.K961E	ENST00000362095	NM_032972.2	961	Aag/Gag	0			1			G	K/E	uc004fqo.2	protein_coding					2818/3960										0	c.(2881-2883)AAG>GAG			hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15,Pfam_domain:PF08374	protocadherin 11 Y-linked isoform c				ENSP00000383306		5-Feb									COSM3408057,COSM3408056,COSM3408055	5-Feb	.		ENST00000400457	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000099715	g.chrY:4968500A>G	15813			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=PC11Y_HUMAN&rb=807&re=1033&var=K961E	NA	getma.org/?cm=var&var=hg19,Y,4968500,A,G&fts=all	K961E	--	--	1																																		PCDH11Y_uc010nwg.1_Missense_Mutation_p.K950E|PCDH11Y_uc004fql.1_Missense_Mutation_p.K950E|PCDH11Y_uc004fqm.1_Missense_Mutation_p.K950E|PCDH11Y_uc004fqn.1_Missense_Mutation_p.K961E|PCDH11Y_uc004fqp.1_Missense_Mutation_p.K732E	1,1,1			probably_damaging(0.999)	p.K961E	NM_032973	NP_116755		tolerated(0.1)	1,1,1		PCDH11Y	HGNC	Q9BZA8	PC11Y_HUMAN			Q70LR5_HUMAN,Q70LR4_HUMAN		2	3615	+			UPI000059DC01	961			Cytoplasmic (Potential).		SNV	PCDH11Y,missense_variant,p.Lys940Glu,ENST00000400457,NM_032973.2;PCDH11Y,missense_variant,p.Lys950Glu,ENST00000333703,NM_032971.2,NM_001278619.1;PCDH11Y,missense_variant,p.Lys961Glu,ENST00000362095,NM_032972.2;PCDH11Y,missense_variant,p.Lys961Glu,ENST00000215473,;	uc004fqo.2	c.2881A>G	2816/8240	3	3			c.2881A>G						24	SNP	c.(2881-2883)AAG>GAG	9	9				0	Broad	protocadherin 11 Y-linked isoform c			4968500		0.458	ENSG00000099715	11317	g.chrY:4968500A>G	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							34.818838	KEEP	13	8	-1	47	66	13	8	-1	47.91135	47	66	0.163934	1	0	0	0	0	1	0	0	0	--	--		0	G			PCDH11Y_uc010nwg.1_Missense_Mutation_p.K950E|PCDH11Y_uc004fql.1_Missense_Mutation_p.K950E|PCDH11Y_uc004fqm.1_Missense_Mutation_p.K950E|PCDH11Y_uc004fqn.1_Missense_Mutation_p.K961E|PCDH11Y_uc004fqp.1_Missense_Mutation_p.K732E	70	GBM-06-0750-TP	p.K961E	A	TACTACTTTCAAGCCTGACAG	NM_032973	NP_116755	4968500	Q9BZA8	PC11Y_HUMAN	0			2	3615	+	G	G			Missense_Mutation	961			Cytoplasmic (Potential).			
PCDH11Y	0	broad.mit.edu	GRCh37	Y	5605715	5605715	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01	TCGA-27-2523-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400457.2:c.3690C>T	p.Ser1231Phe	p.S1231F	ENST00000400457	NM_032973.2	1231	tCt/tTt	0			1			T	S/F	uc004fqo.2	protein_coding					3692/3960										0	c.(3754-3756)TCT>TTT			hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15	protocadherin 11 Y-linked isoform c				ENSP00000383306		5-May									COSM3408060	5-May	.		ENST00000400457	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000099715	g.chrY:5605715C>T	15813			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=PC11Y_HUMAN&rb=1161&re=1259&var=S1252F	NA	getma.org/?cm=var&var=hg19,Y,5605715,C,T&fts=all	S1252F	--	--	1																																			1	1		benign(0.435)	p.S1252F	NM_032973	NP_116755		deleterious_low_confidence(0)	1		PCDH11Y	HGNC	Q9BZA8	PC11Y_HUMAN			Q70LR5_HUMAN,Q70LR4_HUMAN		5	4489	+			UPI000059DC01	1252			Cytoplasmic (Potential).		SNV	PCDH11Y,missense_variant,p.Ser1231Phe,ENST00000400457,NM_032973.2;PCDH11Y,missense_variant,p.Ser1252Phe,ENST00000215473,;	uc004fqo.2	c.3755C>T	3690/8240	1	1			c.3755C>T						24	SNP	c.(3754-3756)TCT>TTT	13	13				0	Broad	protocadherin 11 Y-linked isoform c			5605715		0.552	ENSG00000099715	11317	g.chrY:5605715C>T	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							520.000354	KEEP	63	107	-1	7	6	63	107	-1	546.934359	7	6	0.932927	1	0	0	0	0	1	0	0	0	--	--		0	T				201	GBM-27-2523-TP	p.S1252F	C	AGCCACAGCTCTTCTCTGCCA	NM_032973	NP_116755	5605715	Q9BZA8	PC11Y_HUMAN	0			5	4489	+	T	T			Missense_Mutation	1252			Cytoplasmic (Potential).			
PCDH11Y	83259		GRCh37	Y	5605925	5605925	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000215473.6:c.3965G>A	p.Arg1322His	p.R1322H	ENST00000215473		1322	cGc/cAc	0																																																																																																																																																																																																																																												
PCDH11Y	83259		GRCh37	Y	4966471	4966471	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000362095.5:c.852A>G	p.Thr284=	p.T284=	ENST00000362095	NM_032972.2	284	acA/acG	0																																																																																																																																																																																																																																												
PCDH11Y	83259		GRCh37	Y	4966872	4966872	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000362095.5:c.1253C>T	p.Thr418Met	p.T418M	ENST00000362095	NM_032972.2	418	aCg/aTg	0																																																																																																																																																																																																																																												
PCDH12	0	broad.mit.edu	GRCh37	5	141336339	141336339	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-1979-01	TCGA-32-1979-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000231484.3:c.1078C>G	p.Pro360Ala	p.P360A	ENST00000231484	NM_016580.3	360	Cca/Gca	0			1			C	P/A	uc003llx.2	protein_coding	YES	CCDS4269.1			1078/3555									ovary(3)	3	c.(1078-1080)CCA>GCA			PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF42,Superfamily_domains:SSF49313	protocadherin 12 precursor				ENSP00000231484		4-Jan									COSM3409959	4-Jan	.		ENST00000231484	Transcript			neuron recognition	integral to plasma membrane	calcium ion binding	ENSG00000113555	g.chr5:141336339G>C	8657			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=PCD12_HUMAN&rb=360&re=451&var=P360A	NA	getma.org/?cm=var&var=hg19,5,141336339,G,C&fts=all	P360A	--	--	1																																			1	1		benign(0.003)	p.P360A	NM_016580	NP_057664		tolerated(0.82)	1	PCD12_HUMAN	PCDH12	HGNC	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		E5RJD4_HUMAN		1	2289	-		all_hematologic(541;0.0999)	UPI00001313B4	360			Cadherin 4.|Extracellular (Potential).		SNV	PCDH12,missense_variant,p.Pro360Ala,ENST00000231484,NM_016580.3;RNF14,upstream_gene_variant,,ENST00000511961,;RNF14,upstream_gene_variant,,ENST00000506822,;PCDH12,downstream_gene_variant,,ENST00000510041,;AC005740.6,downstream_gene_variant,,ENST00000607378,;PCDH12,downstream_gene_variant,,ENST00000512221,;	uc003llx.2	c.1078C>G	2289/6562	3	3			c.1078C>G						5	SNP	c.(1078-1080)CCA>GCA	16	16			ovary(3)	3	Broad	protocadherin 12 precursor			141336339		0.507	ENSG00000113555	11318	g.chr5:141336339G>C	neuron recognition	integral to plasma membrane	calcium ion binding							94.648053	KEEP	21	14	-1	47	46	21	14	-1	99.421702	47	46	0.283186	1	0	0	0	0	1	0	0	0	--	--		0	C				230	GBM-32-1979-TP	p.P360A	G	ACCAGTGATGGCTGGGAGGCC	NM_016580	NP_057664	141336339	Q9NPG4	PCD12_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2289	-	C	C		all_hematologic(541;0.0999)	Missense_Mutation	360			Cadherin 4.|Extracellular (Potential).			
PCDH15	65217	broad.mit.edu	GRCh37	10	55755492	55755492	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361849.3:c.2785C>T	p.Arg929Ter	p.R929*	ENST00000361849	NM_001142768.1	929	Cga/Tga	0			1			A	R/*	uc001jju.1	protein_coding		CCDS7248.1			2785/5868									pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13	c.(2785-2787)CGA>TGA			Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11,Superfamily_domains:SSF49313	protocadherin 15 isoform CD1-4 precursor				ENSP00000322604		21/33									COSM1321298,COSM1321299,COSM1321301,COSM1321300	21/33	.		ENST00000320301	Transcript	1		equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	ENSG00000150275	g.chr10:55755492G>A	14674			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,10,55755492,G,A&fts=all	R929*	--	--	1				HNSCC(58;0.16)																														PCDH15_uc010qhq.1_Nonsense_Mutation_p.R934*|PCDH15_uc010qhr.1_Nonsense_Mutation_p.R929*|PCDH15_uc010qhs.1_Nonsense_Mutation_p.R941*|PCDH15_uc010qht.1_Nonsense_Mutation_p.R936*|PCDH15_uc010qhu.1_Nonsense_Mutation_p.R929*|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Nonsense_Mutation_p.R929*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.R892*|PCDH15_uc010qhx.1_Nonsense_Mutation_p.R858*|PCDH15_uc010qhy.1_Nonsense_Mutation_p.R934*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.R929*|PCDH15_uc010qia.1_Nonsense_Mutation_p.R907*|PCDH15_uc010qib.1_Nonsense_Mutation_p.R907*|PCDH15_uc001jjw.2_Nonsense_Mutation_p.R929*	1,1,1,1				p.R929*	NM_033056	NP_149045			1,1,1,1	PCD15_HUMAN	PCDH15	HGNC	Q96QU1	PCD15_HUMAN			A2A3D9_HUMAN		21	3180	-		Melanoma(3;0.117)|Lung SC(717;0.238)	UPI000014083E	929			Extracellular (Potential).|Cadherin 9.		SNV	PCDH15,stop_gained,p.Arg936Ter,ENST00000373965,NM_001142772.1,NM_001142771.1;PCDH15,stop_gained,p.Arg934Ter,ENST00000414778,;PCDH15,stop_gained,p.Arg929Ter,ENST00000361849,NM_001142768.1,NM_001142765.1,NM_001142764.1,NM_001142763.1;PCDH15,stop_gained,p.Arg892Ter,ENST00000395432,NM_001142767.1;PCDH15,stop_gained,p.Arg907Ter,ENST00000395433,NM_001142773.1;PCDH15,stop_gained,p.Arg929Ter,ENST00000320301,NM_033056.3;PCDH15,stop_gained,p.Arg929Ter,ENST00000395430,NM_001142766.1;PCDH15,stop_gained,p.Arg858Ter,ENST00000437009,;PCDH15,stop_gained,p.Arg929Ter,ENST00000395438,NM_001142770.1;PCDH15,stop_gained,p.Arg936Ter,ENST00000395445,NM_001142769.1;PCDH15,stop_gained,p.Arg540Ter,ENST00000409834,;PCDH15,stop_gained,p.Arg929Ter,ENST00000373955,;PCDH15,intron_variant,,ENST00000373957,;PCDH15,intron_variant,,ENST00000395446,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,3_prime_UTR_variant,,ENST00000448885,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;	uc001jju.1	c.2785C>T	3180/6845	5	2			c.2785C>T						10	SNP	c.(2785-2787)CGA>TGA	42	42			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13	Broad	protocadherin 15 isoform CD1-4 precursor			55755492		0.408	ENSG00000150275	11319	g.chr10:55755492G>A	equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			1612			1612	-0.880181	KEEP	4	2	-1	35	29	4	2	-1	11.299322	35	29	0.075758	1	0	0	0	0	0	1	0	0	--	--	HNSCC(58;0.16)	0	A			PCDH15_uc010qhq.1_Nonsense_Mutation_p.R934*|PCDH15_uc010qhr.1_Nonsense_Mutation_p.R929*|PCDH15_uc010qhs.1_Nonsense_Mutation_p.R941*|PCDH15_uc010qht.1_Nonsense_Mutation_p.R936*|PCDH15_uc010qhu.1_Nonsense_Mutation_p.R929*|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Nonsense_Mutation_p.R929*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.R892*|PCDH15_uc010qhx.1_Nonsense_Mutation_p.R858*|PCDH15_uc010qhy.1_Nonsense_Mutation_p.R934*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.R929*|PCDH15_uc010qia.1_Nonsense_Mutation_p.R907*|PCDH15_uc010qib.1_Nonsense_Mutation_p.R907*|PCDH15_uc001jjw.2_Nonsense_Mutation_p.R929*	23	GBM-06-0145-TP	p.R929*	G	TTGTATATTCGTTTACTAAAG	NM_033056	NP_149045	55755492	Q96QU1	PCD15_HUMAN	0			21	3180	-	A	A		Melanoma(3;0.117)|Lung SC(717;0.238)	Nonsense_Mutation	929			Extracellular (Potential).|Cadherin 9.			
PCDH15	65217	broad.mit.edu	GRCh37	10	55839114	55839114	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0747-01	TCGA-06-0747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361849.3:c.2068G>C	p.Ala690Pro	p.A690P	ENST00000361849	NM_001142768.1	690	Gct/Cct	0			1			G	A/P	uc001jju.1	protein_coding		CCDS7248.1			2068/5868									pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13	c.(2068-2070)GCT>CCT			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin 15 isoform CD1-4 precursor				ENSP00000322604		17/33									COSM2151776,COSM2151777,COSM2151779,COSM2151778	17/33	.		ENST00000320301	Transcript	1		equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	ENSG00000150275	g.chr10:55839114C>G	14674			MODERATE		4.39	high	getma.org/?cm=msa&ty=f&p=PCD15_HUMAN&rb=621&re=708&var=A690P	getma.org/pdb.php?prot=PCD15_HUMAN&from=621&to=708&var=A690P	getma.org/?cm=var&var=hg19,10,55839114,C,G&fts=all	A690P	--	--	1				HNSCC(58;0.16)																														PCDH15_uc010qhq.1_Missense_Mutation_p.A695P|PCDH15_uc010qhr.1_Missense_Mutation_p.A690P|PCDH15_uc010qhs.1_Missense_Mutation_p.A702P|PCDH15_uc010qht.1_Missense_Mutation_p.A697P|PCDH15_uc010qhu.1_Missense_Mutation_p.A690P|PCDH15_uc001jjv.1_Missense_Mutation_p.A668P|PCDH15_uc010qhv.1_Missense_Mutation_p.A690P|PCDH15_uc010qhw.1_Missense_Mutation_p.A653P|PCDH15_uc010qhx.1_Missense_Mutation_p.A619P|PCDH15_uc010qhy.1_Missense_Mutation_p.A695P|PCDH15_uc010qhz.1_Missense_Mutation_p.A690P|PCDH15_uc010qia.1_Missense_Mutation_p.A668P|PCDH15_uc010qib.1_Missense_Mutation_p.A668P|PCDH15_uc001jjw.2_Missense_Mutation_p.A690P	1,1,1,1			probably_damaging(1)	p.A690P	NM_033056	NP_149045		deleterious(0)	1,1,1,1	PCD15_HUMAN	PCDH15	HGNC	Q96QU1	PCD15_HUMAN			A2A3D9_HUMAN		17	2463	-		Melanoma(3;0.117)|Lung SC(717;0.238)	UPI000014083E	690			Cadherin 6.|Extracellular (Potential).		SNV	PCDH15,missense_variant,p.Ala697Pro,ENST00000373965,NM_001142772.1,NM_001142771.1;PCDH15,missense_variant,p.Ala695Pro,ENST00000414778,;PCDH15,missense_variant,p.Ala690Pro,ENST00000361849,NM_001142768.1,NM_001142765.1,NM_001142764.1,NM_001142763.1;PCDH15,missense_variant,p.Ala653Pro,ENST00000395432,NM_001142767.1;PCDH15,missense_variant,p.Ala668Pro,ENST00000395433,NM_001142773.1;PCDH15,missense_variant,p.Ala690Pro,ENST00000320301,NM_033056.3;PCDH15,missense_variant,p.Ala690Pro,ENST00000395430,NM_001142766.1;PCDH15,missense_variant,p.Ala619Pro,ENST00000437009,;PCDH15,missense_variant,p.Ala690Pro,ENST00000395438,NM_001142770.1;PCDH15,missense_variant,p.Ala697Pro,ENST00000395445,NM_001142769.1;PCDH15,missense_variant,p.Ala301Pro,ENST00000409834,;PCDH15,missense_variant,p.Ala690Pro,ENST00000373955,;PCDH15,missense_variant,p.Ala668Pro,ENST00000373957,;PCDH15,missense_variant,p.Ala690Pro,ENST00000395446,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,3_prime_UTR_variant,,ENST00000448885,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;	uc001jju.1	c.2068G>C	2463/6845	4	4			c.2068G>C						10	SNP	c.(2068-2070)GCT>CCT	29	29			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13	Broad	protocadherin 15 isoform CD1-4 precursor			55839114		0.433	ENSG00000150275	11319	g.chr10:55839114C>G	equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			1612			1612	363.759076	KEEP	67	47	-1	16	9	67	47	-1	374.202393	16	9	0.806723	1	0	0	0	0	1	0	0	0	--	--	HNSCC(58;0.16)	0	G			PCDH15_uc010qhq.1_Missense_Mutation_p.A695P|PCDH15_uc010qhr.1_Missense_Mutation_p.A690P|PCDH15_uc010qhs.1_Missense_Mutation_p.A702P|PCDH15_uc010qht.1_Missense_Mutation_p.A697P|PCDH15_uc010qhu.1_Missense_Mutation_p.A690P|PCDH15_uc001jjv.1_Missense_Mutation_p.A668P|PCDH15_uc010qhv.1_Missense_Mutation_p.A690P|PCDH15_uc010qhw.1_Missense_Mutation_p.A653P|PCDH15_uc010qhx.1_Missense_Mutation_p.A619P|PCDH15_uc010qhy.1_Missense_Mutation_p.A695P|PCDH15_uc010qhz.1_Missense_Mutation_p.A690P|PCDH15_uc010qia.1_Missense_Mutation_p.A668P|PCDH15_uc010qib.1_Missense_Mutation_p.A668P|PCDH15_uc001jjw.2_Missense_Mutation_p.A690P	68	GBM-06-0747-TP	p.A690P	C	CCATCTGAAGCTGTGATGATC	NM_033056	NP_149045	55839114	Q96QU1	PCD15_HUMAN	0			17	2463	-	G	G		Melanoma(3;0.117)|Lung SC(717;0.238)	Missense_Mutation	690			Cadherin 6.|Extracellular (Potential).			
PCDH15	65217	broad.mit.edu	GRCh37	10	55944974	55944974	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs61735473	byFrequency;by1000genomes	TCGA-06-6388-01	TCGA-06-6388-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361849.3:c.1360G>A	p.Val454Ile	p.V454I	ENST00000361849	NM_001142768.1	454	Gtc/Atc	0	T:0.0359	T:0.0469	1	T:0.0014		T	V/I	uc001jju.1	protein_coding		CCDS7248.1			1360/5868						benign		p.V454I(1)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13	c.(1360-1362)GTC>ATC			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin 15 isoform CD1-4 precursor		T:0	T:0.0001	ENSP00000322604	T:0	Dec-33	0.00327	0.0348	0.00164			0.00018	0.0011	0.000182	rs61735473,COSM84008,COSM3397181,COSM3397183,COSM3397182	Dec-33	common_variant		ENST00000320301	Transcript	1	T:0.0126	equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	ENSG00000150275	g.chr10:55944974C>T	14674			MODERATE		1.555	low	getma.org/?cm=msa&ty=f&p=PCD15_HUMAN&rb=411&re=500&var=V454I	NA	getma.org/?cm=var&var=hg19,10,55944974,C,T&fts=all	V454I	--	--	1				HNSCC(58;0.16)																														PCDH15_uc010qhq.1_Missense_Mutation_p.V459I|PCDH15_uc010qhr.1_Missense_Mutation_p.V454I|PCDH15_uc010qhs.1_Missense_Mutation_p.V466I|PCDH15_uc010qht.1_Missense_Mutation_p.V461I|PCDH15_uc010qhu.1_Missense_Mutation_p.V454I|PCDH15_uc001jjv.1_Missense_Mutation_p.V432I|PCDH15_uc010qhv.1_Missense_Mutation_p.V454I|PCDH15_uc010qhw.1_Missense_Mutation_p.V417I|PCDH15_uc010qhx.1_Missense_Mutation_p.V454I|PCDH15_uc010qhy.1_Missense_Mutation_p.V459I|PCDH15_uc010qhz.1_Missense_Mutation_p.V454I|PCDH15_uc010qia.1_Missense_Mutation_p.V432I|PCDH15_uc010qib.1_Missense_Mutation_p.V432I|PCDH15_uc001jjw.2_Missense_Mutation_p.V454I	1,1,1,1,1			benign(0.177)	p.V454I	NM_033056	NP_149045	T:0	tolerated(0.29)	0,1,1,1,1	PCD15_HUMAN	PCDH15	HGNC	Q96QU1	PCD15_HUMAN			A2A3D9_HUMAN		12	1755	-		Melanoma(3;0.117)|Lung SC(717;0.238)	UPI000014083E	454			Cadherin 4.|Extracellular (Potential).		SNV	PCDH15,missense_variant,p.Val461Ile,ENST00000373965,NM_001142772.1,NM_001142771.1;PCDH15,missense_variant,p.Val459Ile,ENST00000414778,;PCDH15,missense_variant,p.Val454Ile,ENST00000361849,NM_001142768.1,NM_001142765.1,NM_001142764.1,NM_001142763.1;PCDH15,missense_variant,p.Val417Ile,ENST00000395432,NM_001142767.1;PCDH15,missense_variant,p.Val432Ile,ENST00000395433,NM_001142773.1;PCDH15,missense_variant,p.Val454Ile,ENST00000320301,NM_033056.3;PCDH15,missense_variant,p.Val454Ile,ENST00000395430,NM_001142766.1;PCDH15,missense_variant,p.Val454Ile,ENST00000437009,;PCDH15,missense_variant,p.Val454Ile,ENST00000395438,NM_001142770.1;PCDH15,missense_variant,p.Val461Ile,ENST00000395445,NM_001142769.1;PCDH15,missense_variant,p.Val65Ile,ENST00000409834,;PCDH15,missense_variant,p.Val454Ile,ENST00000373955,;PCDH15,missense_variant,p.Val432Ile,ENST00000373957,;PCDH15,missense_variant,p.Val454Ile,ENST00000395446,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,missense_variant,p.Val454Ile,ENST00000448885,;PCDH15,intron_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;	uc001jju.1	c.1360G>A	1755/6845	2	2			c.1360G>A						10	SNP	c.(1360-1362)GTC>ATC	43	43		p.V454I(1)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13	Broad	protocadherin 15 isoform CD1-4 precursor			55944974		0.393	ENSG00000150275	11319	g.chr10:55944974C>T	equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding		p.V454I(RAJI-Tumor)|p.V454I(NCIH1694-Tumor)|p.V454I(HCC2157-Tumor)|p.V454I(NAMALWA-Tumor)|p.V454I(NCIH2172-Tumor)	1612		p.V454I(RAJI-Tumor)|p.V454I(NCIH1694-Tumor)|p.V454I(HCC2157-Tumor)|p.V454I(NAMALWA-Tumor)|p.V454I(NCIH2172-Tumor)	1612	73.574924	KEEP	16	9	-1	12	10	16	9	-1	73.650291	12	10	0.543478	1	0	0	0	0	1	0	0	0	--	--	HNSCC(58;0.16)	0	T			PCDH15_uc010qhq.1_Missense_Mutation_p.V459I|PCDH15_uc010qhr.1_Missense_Mutation_p.V454I|PCDH15_uc010qhs.1_Missense_Mutation_p.V466I|PCDH15_uc010qht.1_Missense_Mutation_p.V461I|PCDH15_uc010qhu.1_Missense_Mutation_p.V454I|PCDH15_uc001jjv.1_Missense_Mutation_p.V432I|PCDH15_uc010qhv.1_Missense_Mutation_p.V454I|PCDH15_uc010qhw.1_Missense_Mutation_p.V417I|PCDH15_uc010qhx.1_Missense_Mutation_p.V454I|PCDH15_uc010qhy.1_Missense_Mutation_p.V459I|PCDH15_uc010qhz.1_Missense_Mutation_p.V454I|PCDH15_uc010qia.1_Missense_Mutation_p.V432I|PCDH15_uc010qib.1_Missense_Mutation_p.V432I|PCDH15_uc001jjw.2_Missense_Mutation_p.V454I	104	GBM-06-6388-TP	p.V454I	C	GTCTGTGTGACGGTGAAGACT	NM_033056	NP_149045	55944974	Q96QU1	PCD15_HUMAN	0			12	1755	-	T	T		Melanoma(3;0.117)|Lung SC(717;0.238)	Missense_Mutation	454			Cadherin 4.|Extracellular (Potential).			
PCDH15	0	broad.mit.edu	GRCh37	10	55591167	55591167	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-26-5133-01	TCGA-26-5133-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320301.6:c.4110A>G	p.Leu1370=	p.L1370=	ENST00000320301	NM_033056.3	1370	ctA/ctG	0			1			C	L	uc001jju.1	protein_coding		CCDS7248.1			4110/5868									pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13	c.(4108-4110)CTA>CTG				protocadherin 15 isoform CD1-4 precursor				ENSP00000322604		30/33									COSM3397177,COSM3397178,COSM3397180,COSM3397179	30/33	.		ENST00000320301	Transcript	1		equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	ENSG00000150275	g.chr10:55591167T>C	14674			LOW								--	--	1				HNSCC(58;0.16)																														PCDH15_uc010qhq.1_Silent_p.L1375L|PCDH15_uc010qhr.1_Silent_p.L1370L|PCDH15_uc010qhs.1_Silent_p.L1382L|PCDH15_uc010qht.1_Silent_p.L1377L|PCDH15_uc010qhu.1_Silent_p.L1370L|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.L1370L|PCDH15_uc010qhw.1_Silent_p.L1333L|PCDH15_uc010qhx.1_Silent_p.L1299L|PCDH15_uc010qhy.1_Silent_p.L1375L|PCDH15_uc010qhz.1_Silent_p.L1370L|PCDH15_uc010qia.1_Silent_p.L1348L|PCDH15_uc010qib.1_Silent_p.L1348L	1,1,1,1				p.L1370L	NM_033056	NP_149045			1,1,1,1	PCD15_HUMAN	PCDH15	HGNC	Q96QU1	PCD15_HUMAN			A2A3D9_HUMAN		30	4505	-		Melanoma(3;0.117)|Lung SC(717;0.238)	UPI000014083E	1370			Extracellular (Potential).		SNV	PCDH15,synonymous_variant,p.=,ENST00000373965,NM_001142772.1,NM_001142771.1;PCDH15,synonymous_variant,p.=,ENST00000414778,;PCDH15,synonymous_variant,p.=,ENST00000361849,NM_001142768.1,NM_001142765.1,NM_001142764.1,NM_001142763.1;PCDH15,synonymous_variant,p.=,ENST00000395432,NM_001142767.1;PCDH15,synonymous_variant,p.=,ENST00000395433,NM_001142773.1;PCDH15,synonymous_variant,p.=,ENST00000320301,NM_033056.3;PCDH15,synonymous_variant,p.=,ENST00000395430,NM_001142766.1;PCDH15,synonymous_variant,p.=,ENST00000437009,;PCDH15,synonymous_variant,p.=,ENST00000395438,NM_001142770.1;PCDH15,synonymous_variant,p.=,ENST00000395445,NM_001142769.1;PCDH15,synonymous_variant,p.=,ENST00000409834,;PCDH15,intron_variant,,ENST00000373957,;PCDH15,intron_variant,,ENST00000395446,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,non_coding_transcript_exon_variant,,ENST00000463095,;PCDH15,non_coding_transcript_exon_variant,,ENST00000495484,;PCDH15,3_prime_UTR_variant,,ENST00000448885,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;PCDH15,3_prime_UTR_variant,,ENST00000414367,;	uc001jju.1	c.4110A>G	4505/6845	3	3			c.4110A>G						10	SNP	c.(4108-4110)CTA>CTG	11	11			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13	Broad	protocadherin 15 isoform CD1-4 precursor			55591167		0.483	ENSG00000150275	11319	g.chr10:55591167T>C	equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			1612			1612	52.101878	KEEP	7	16	-1	56	59	7	16	-1	66.931412	56	59	0.157895	1	0	0	0	0	0	0	1	0	--	--	HNSCC(58;0.16)	0	C			PCDH15_uc010qhq.1_Silent_p.L1375L|PCDH15_uc010qhr.1_Silent_p.L1370L|PCDH15_uc010qhs.1_Silent_p.L1382L|PCDH15_uc010qht.1_Silent_p.L1377L|PCDH15_uc010qhu.1_Silent_p.L1370L|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.L1370L|PCDH15_uc010qhw.1_Silent_p.L1333L|PCDH15_uc010qhx.1_Silent_p.L1299L|PCDH15_uc010qhy.1_Silent_p.L1375L|PCDH15_uc010qhz.1_Silent_p.L1370L|PCDH15_uc010qia.1_Silent_p.L1348L|PCDH15_uc010qib.1_Silent_p.L1348L	182	GBM-26-5133-TP	p.L1370L	T	CTGTGTATCCTAGACTTTCTC	NM_033056	NP_149045	55591167	Q96QU1	PCD15_HUMAN	0			30	4505	-	C	C		Melanoma(3;0.117)|Lung SC(717;0.238)	Silent	1370			Extracellular (Potential).			
PCDH17	27253	broad.mit.edu	GRCh37	13	58207302	58207303	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-06-0241-01	TCGA-06-0241-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377918.3:c.623dup	p.His208GlnfsTer28	p.H208Qfs*28	ENST00000377918	NM_001040429.2	208	cac/cAac	0			1			A	H/QX	uc001vhq.1	protein_coding	YES	CCDS31986.1			622-623/3480									ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7	c.(622-624)CACfs			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF41,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin 17 precursor				ENSP00000367151		4-Jan										4-Jan	.		ENST00000377918	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	ENSG00000118946	g.chr13:58207302_58207303insA	14267	1		HIGH								--	--	1																																		PCDH17_uc010aec.1_Frame_Shift_Ins_p.H208fs		1			p.H208fs	NM_001040429	NP_001035519				PCD17_HUMAN	PCDH17	HGNC	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)			1	1514_1515	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	UPI00001FCE5B	208			Extracellular (Potential).|Cadherin 2.		insertion	PCDH17,frameshift_variant,p.His208GlnfsTer28,ENST00000377918,NM_001040429.2;PCDH17,frameshift_variant,p.His208GlnfsTer28,ENST00000484979,;	uc001vhq.1	c.622_623insA	648-649/7523	5	5			c.622_623insA						13	INS	c.(622-624)CACfs	14	14			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7	Broad	protocadherin 17 precursor			58207303		0.599	ENSG00000118946	11320	g.chr13:58207302_58207303insA	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	Melanoma(72;952 1291 1619 12849 33676)			Melanoma(72;952 1291 1619 12849 33676)																0.34	1	0	0	1	1	0	0	0	0	--	--		0	A			PCDH17_uc010aec.1_Frame_Shift_Ins_p.H208fs	57	GBM-06-0241-TP	p.H208fs	-	GCAACAGAATCACCATACGCTC	NM_001040429	NP_001035519	58207302	O14917	PCD17_HUMAN	0		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1514_1515	+	A	A		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	Frame_Shift_Ins	208			Extracellular (Potential).|Cadherin 2.			
PCDH17	0	broad.mit.edu	GRCh37	13	58207833	58207833	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377918.3:c.1153G>A	p.Gly385Arg	p.G385R	ENST00000377918	NM_001040429.2	385	Gga/Aga	0			1			A	G/R	uc001vhq.1	protein_coding	YES	CCDS31986.1			1153/3480									ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7	c.(1153-1155)GGA>AGA			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF41,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin 17 precursor				ENSP00000367151		4-Jan									COSM3399423	4-Jan	.		ENST00000377918	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	ENSG00000118946	g.chr13:58207833G>A	14267			MODERATE		2.9	medium	getma.org/?cm=msa&ty=f&p=PCD17_HUMAN&rb=357&re=463&var=G385R	getma.org/pdb.php?prot=PCD17_HUMAN&from=357&to=463&var=G385R	getma.org/?cm=var&var=hg19,13,58207833,G,A&fts=all	G385R	--	--	1																																		PCDH17_uc010aec.1_Missense_Mutation_p.G385R	1	1		probably_damaging(1)	p.G385R	NM_001040429	NP_001035519		deleterious(0)	1	PCD17_HUMAN	PCDH17	HGNC	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)			1	2045	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	UPI00001FCE5B	385			Extracellular (Potential).|Gly-rich.|Cadherin 4.		SNV	PCDH17,missense_variant,p.Gly385Arg,ENST00000377918,NM_001040429.2;PCDH17,missense_variant,p.Gly385Arg,ENST00000484979,;	uc001vhq.1	c.1153G>A	1179/7523	2	2			c.1153G>A						13	SNP	c.(1153-1155)GGA>AGA	32	32			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7	Broad	protocadherin 17 precursor			58207833		0.557	ENSG00000118946	11320	g.chr13:58207833G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	Melanoma(72;952 1291 1619 12849 33676)			Melanoma(72;952 1291 1619 12849 33676)			-1.302833	KEEP	2	1	-1	25	20	2	1	-1	7.177458	25	20	0.068182	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDH17_uc010aec.1_Missense_Mutation_p.G385R	249	GBM-32-5222-TP	p.G385R	G	TGGCAAGAACGGACAGCTGCA	NM_001040429	NP_001035519	58207833	O14917	PCD17_HUMAN	0		GBM - Glioblastoma multiforme(99;1.06e-05)	1	2045	+	A	A		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	Missense_Mutation	385			Extracellular (Potential).|Gly-rich.|Cadherin 4.			
PCDH17	0	broad.mit.edu	GRCh37	13	58208729	58208729	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377918.3:c.2049G>A	p.Ser683=	p.S683=	ENST00000377918	NM_001040429.2	683	tcG/tcA	0			1			A	S	uc001vhq.1	protein_coding	YES	CCDS31986.1			2049/3480									ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7	c.(2047-2049)TCG>TCA			PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF41,SMART_domains:SM00112	protocadherin 17 precursor				ENSP00000367151		4-Jan									COSM1943751	4-Jan	.		ENST00000377918	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	ENSG00000118946	g.chr13:58208729G>A	14267			LOW								--	--	1																																		PCDH17_uc010aec.1_Silent_p.S683S	1	1			p.S683S	NM_001040429	NP_001035519			1	PCD17_HUMAN	PCDH17	HGNC	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)			1	2941	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	UPI00001FCE5B	683			Extracellular (Potential).|Cadherin 6.		SNV	PCDH17,synonymous_variant,p.=,ENST00000377918,NM_001040429.2;PCDH17,synonymous_variant,p.=,ENST00000484979,;	uc001vhq.1	c.2049G>A	2075/7523	1	1			c.2049G>A						13	SNP	c.(2047-2049)TCG>TCA	57	57			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7	Broad	protocadherin 17 precursor			58208729		0.632	ENSG00000118946	11320	g.chr13:58208729G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	Melanoma(72;952 1291 1619 12849 33676)			Melanoma(72;952 1291 1619 12849 33676)			309.013618	KEEP	47	75	-1	80	94	47	75	-1	310.435685	80	94	0.415584	1	0	0	0	0	0	0	1	0	--	--		0	A			PCDH17_uc010aec.1_Silent_p.S683S	249	GBM-32-5222-TP	p.S683S	G	TCATCCGCTCGGTGAGCGGAT	NM_001040429	NP_001035519	58208729	O14917	PCD17_HUMAN	0		GBM - Glioblastoma multiforme(99;1.06e-05)	1	2941	+	A	A		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	Silent	683			Extracellular (Potential).|Cadherin 6.			
PCDH17	27253		GRCh37	13	58299189	58299189	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000377918.3:c.3241C>G	p.Pro1081Ala	p.P1081A	ENST00000377918	NM_001040429.2	1081	Cct/Gct	0																																																																																																																																																																																																																																												
PCDH18	54510	broad.mit.edu	GRCh37	4	138442740	138442740	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0184-01	TCGA-06-0184-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344876.4:c.2851G>C	p.Gly951Arg	p.G951R	ENST00000344876	NM_019035.3	951	Ggg/Cgg	0			1			G	G/R	uc003ihe.3	protein_coding	YES	CCDS34064.1			2851/3408									pancreas(3)|skin(2)	5	c.(2851-2853)GGG>CGG				protocadherin 18 precursor				ENSP00000355082		4-Apr									COSM2150443	4-Apr	.		ENST00000344876	Transcript			brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000189184	g.chr4:138442740C>G	14268			MODERATE		2.39	medium	getma.org/?cm=msa&ty=f&p=PCD18_HUMAN&rb=877&re=1076&var=G951R	NA	getma.org/?cm=var&var=hg19,4,138442740,C,G&fts=all	G951R	--	--	1																																		PCDH18_uc003ihf.3_Missense_Mutation_p.G943R|PCDH18_uc011cgz.1_Missense_Mutation_p.G162R|PCDH18_uc003ihg.3_Missense_Mutation_p.G730R|PCDH18_uc011cha.1_Missense_Mutation_p.G131R	1	1		probably_damaging(1)	p.G951R	NM_019035	NP_061908		deleterious(0.01)	1	PCD18_HUMAN	PCDH18	HGNC	Q9HCL0	PCD18_HUMAN			Q9NT87_HUMAN,B4DQ29_HUMAN		4	3238	-	all_hematologic(180;0.24)		UPI0000047A88	951			Interaction with DAB1 (By similarity).|Cytoplasmic (Potential).		SNV	PCDH18,missense_variant,p.Gly951Arg,ENST00000344876,NM_019035.3;PCDH18,missense_variant,p.Gly950Arg,ENST00000412923,;PCDH18,missense_variant,p.Gly730Arg,ENST00000507846,;PCDH18,missense_variant,p.Gly162Arg,ENST00000510305,;PCDH18,missense_variant,p.Gly131Arg,ENST00000511115,;	uc003ihe.3	c.2851G>C	3238/5906	4	4			c.2851G>C						4	SNP	c.(2851-2853)GGG>CGG	29	29			pancreas(3)|skin(2)	5	Broad	protocadherin 18 precursor			138442740		0.532	ENSG00000189184	11321	g.chr4:138442740C>G	brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							187.874786	KEEP	32	50	-1	109	144	32	50	-1	205.781687	109	144	0.245033	1	0	0	0	0	1	0	0	0	--	--		0	G			PCDH18_uc003ihf.3_Missense_Mutation_p.G943R|PCDH18_uc011cgz.1_Missense_Mutation_p.G162R|PCDH18_uc003ihg.3_Missense_Mutation_p.G730R|PCDH18_uc011cha.1_Missense_Mutation_p.G131R	39	GBM-06-0184-TP	p.G951R	C	AATTCTTCCCCTGGAATGAAC	NM_019035	NP_061908	138442740	Q9HCL0	PCD18_HUMAN	0			4	3238	-	G	G	all_hematologic(180;0.24)		Missense_Mutation	951			Interaction with DAB1 (By similarity).|Cytoplasmic (Potential).			
PCDH18	0	broad.mit.edu	GRCh37	4	138451923	138451923	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-2620-01	TCGA-19-2620-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344876.4:c.1320G>A	p.Arg440=	p.R440=	ENST00000344876	NM_019035.3	440	agG/agA	0			1			T	R	uc003ihe.3	protein_coding	YES	CCDS34064.1			1320/3408									pancreas(3)|skin(2)	5	c.(1318-1320)AGG>AGA			PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF9,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin 18 precursor				ENSP00000355082		4-Jan	8.24E-06			0.000116					rs753591659,COSM396065	4-Jan	.		ENST00000344876	Transcript			brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000189184	g.chr4:138451923C>T	14268			LOW								--	--	1																																		PCDH18_uc003ihf.3_Silent_p.R433R|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Silent_p.R220R|PCDH18_uc011cha.1_Intron	0,1	1			p.R440R	NM_019035	NP_061908			0,1	PCD18_HUMAN	PCDH18	HGNC	Q9HCL0	PCD18_HUMAN			Q9NT87_HUMAN,B4DQ29_HUMAN		1	1707	-	all_hematologic(180;0.24)		UPI0000047A88	440			Cadherin 4.|Extracellular (Potential).		SNV	PCDH18,synonymous_variant,p.=,ENST00000344876,NM_019035.3;PCDH18,synonymous_variant,p.=,ENST00000412923,;PCDH18,synonymous_variant,p.=,ENST00000507846,;PCDH18,intron_variant,,ENST00000510305,;PCDH18,intron_variant,,ENST00000511115,;	uc003ihe.3	c.1320G>A	1707/5906	2	2			c.1320G>A						4	SNP	c.(1318-1320)AGG>AGA	35	35			pancreas(3)|skin(2)	5	Broad	protocadherin 18 precursor			138451923		0.373	ENSG00000189184	11321	g.chr4:138451923C>T	brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							171.370756	KEEP	32	29	-1	90	56	32	29	-1	178.058605	90	56	0.304569	1	0	0	0	0	0	0	1	0	--	--		0	T			PCDH18_uc003ihf.3_Silent_p.R433R|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Silent_p.R220R|PCDH18_uc011cha.1_Intron	162	GBM-19-2620-TP	p.R440R	C	TGGGTGTCCCCCTGTCCTCAG	NM_019035	NP_061908	138451923	Q9HCL0	PCD18_HUMAN	0			1	1707	-	T	T	all_hematologic(180;0.24)		Silent	440			Cadherin 4.|Extracellular (Potential).			
PCDH18	0	broad.mit.edu	GRCh37	4	138442804	138442804	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-2629-01	TCGA-19-2629-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344876.4:c.2787C>A	p.Asp929Glu	p.D929E	ENST00000344876	NM_019035.3	929	gaC/gaA	0			1			T	D/E	uc003ihe.3	protein_coding	YES	CCDS34064.1			2787/3408									pancreas(3)|skin(2)	5	c.(2785-2787)GAC>GAA				protocadherin 18 precursor				ENSP00000355082		4-Apr									COSM3409064	4-Apr	.		ENST00000344876	Transcript			brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000189184	g.chr4:138442804G>T	14268			MODERATE		2.725	medium	getma.org/?cm=msa&ty=f&p=PCD18_HUMAN&rb=877&re=1076&var=D929E	NA	getma.org/?cm=var&var=hg19,4,138442804,G,T&fts=all	D929E	--	--	1																																		PCDH18_uc003ihf.3_Missense_Mutation_p.D921E|PCDH18_uc011cgz.1_Missense_Mutation_p.D140E|PCDH18_uc003ihg.3_Missense_Mutation_p.D708E|PCDH18_uc011cha.1_Missense_Mutation_p.D109E	1	1		probably_damaging(0.997)	p.D929E	NM_019035	NP_061908		deleterious(0)	1	PCD18_HUMAN	PCDH18	HGNC	Q9HCL0	PCD18_HUMAN			Q9NT87_HUMAN,B4DQ29_HUMAN		4	3174	-	all_hematologic(180;0.24)		UPI0000047A88	929			Interaction with DAB1 (By similarity).|Cytoplasmic (Potential).		SNV	PCDH18,missense_variant,p.Asp929Glu,ENST00000344876,NM_019035.3;PCDH18,missense_variant,p.Asp928Glu,ENST00000412923,;PCDH18,missense_variant,p.Asp708Glu,ENST00000507846,;PCDH18,missense_variant,p.Asp140Glu,ENST00000510305,;PCDH18,missense_variant,p.Asp109Glu,ENST00000511115,;	uc003ihe.3	c.2787C>A	3174/5906	2	2			c.2787C>A						4	SNP	c.(2785-2787)GAC>GAA	34	34			pancreas(3)|skin(2)	5	Broad	protocadherin 18 precursor			138442804		0.498	ENSG00000189184	11321	g.chr4:138442804G>T	brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							79.671025	KEEP	27	15	0.642857143	96	89	27	15	0.642857143	98.839527	96	89	0.183168	1	0	0	0	0	1	0	0	0	--	--		0	T			PCDH18_uc003ihf.3_Missense_Mutation_p.D921E|PCDH18_uc011cgz.1_Missense_Mutation_p.D140E|PCDH18_uc003ihg.3_Missense_Mutation_p.D708E|PCDH18_uc011cha.1_Missense_Mutation_p.D109E	166	GBM-19-2629-TP	p.D929E	G	TCCAGCACTGGTCAGAGTGTC	NM_019035	NP_061908	138442804	Q9HCL0	PCD18_HUMAN	0			4	3174	-	T	T	all_hematologic(180;0.24)		Missense_Mutation	929			Interaction with DAB1 (By similarity).|Cytoplasmic (Potential).			
PCDH19	57526	broad.mit.edu	GRCh37	X	99663291	99663291	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2569-01	TCGA-06-2569-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373034.4:c.305C>T	p.Ser102Leu	p.S102L	ENST00000373034	NM_001184880.1	102	tCg/tTg	0			1			A	S/L	uc010nmz.2	protein_coding	YES	CCDS55462.1			305/3447									ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7	c.(304-306)TCG>TTG			PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF40,Gene3D:2.60.40.60,Pfam_domain:PF08266,SMART_domains:SM00112	protocadherin 19 isoform b				ENSP00000362125		6-Jan									COSM3406696	6-Jan	.		ENST00000373034	Transcript	1		homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000165194	g.chrX:99663291G>A	14270			MODERATE		1.89	low	getma.org/?cm=msa&ty=f&p=PCD19_HUMAN&rb=23&re=109&var=S102L	getma.org/pdb.php?prot=PCD19_HUMAN&from=23&to=109&var=S102L	getma.org/?cm=var&var=hg19,X,99663291,G,A&fts=all	S102L	--	--	1																																		PCDH19_uc004efw.3_Missense_Mutation_p.S102L|PCDH19_uc004efx.3_Missense_Mutation_p.S102L	1	1		probably_damaging(1)	p.S102L	NM_020766	NP_001098713		deleterious(0.04)	1	PCD19_HUMAN	PCDH19	HGNC	Q8TAB3	PCD19_HUMAN					1	1981	-			UPI00001D7BCD	102			Cadherin 1.|Extracellular (Potential).		SNV	PCDH19,missense_variant,p.Ser102Leu,ENST00000373034,NM_001184880.1;PCDH19,missense_variant,p.Ser102Leu,ENST00000255531,NM_020766.2,NM_001105243.1;PCDH19,missense_variant,p.Ser102Leu,ENST00000420881,;	uc010nmz.2	c.305C>T	1981/9756	2	2			c.305C>T						23	SNP	c.(304-306)TCG>TTG	47	47			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7	Broad	protocadherin 19 isoform b			99663291		0.557	ENSG00000165194	11322	g.chrX:99663291G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							146.402017	KEEP	27	28	-1	67	50	27	28	-1	150.091102	67	50	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDH19_uc004efw.3_Missense_Mutation_p.S102L|PCDH19_uc004efx.3_Missense_Mutation_p.S102L	90	GBM-06-2569-TP	p.S102L	G	GACCTCGAGCGAGATGATGCA	NM_020766	NP_001098713	99663291	Q8TAB3	PCD19_HUMAN	0			1	1981	-	A	A			Missense_Mutation	102			Cadherin 1.|Extracellular (Potential).			
PCDH19	57526	broad.mit.edu	GRCh37	X	99662549	99662551	+	inframe_deletion	In_Frame_Del	DEL	CAG	CAG	-			TCGA-06-5418-01	TCGA-06-5418-01	CAG	CAG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373034.4:c.1045_1047del	p.Leu349del	p.L349del	ENST00000373034	NM_001184880.1	349	CTG/-	0			1			-	L/-	uc010nmz.2	protein_coding	YES	CCDS55462.1			1045-1047/3447									ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7	c.(1045-1047)CTGdel			Low_complexity_(Seg):seg,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF40,Superfamily_domains:SSF49313	protocadherin 19 isoform b				ENSP00000362125		6-Jan									COSM2153340	6-Jan	.		ENST00000373034	Transcript	1		homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000165194	g.chrX:99662549_99662551delCAG	14270			MODERATE								--	--	1																																		PCDH19_uc004efw.3_In_Frame_Del_p.L349del|PCDH19_uc004efx.3_In_Frame_Del_p.L349del	1	1			p.L349del	NM_020766	NP_001098713			1	PCD19_HUMAN	PCDH19	HGNC	Q8TAB3	PCD19_HUMAN					1	2721_2723	-			UPI00001D7BCD	349			Extracellular (Potential).		deletion	PCDH19,inframe_deletion,p.Leu349del,ENST00000373034,NM_001184880.1;PCDH19,inframe_deletion,p.Leu349del,ENST00000255531,NM_020766.2,NM_001105243.1;PCDH19,inframe_deletion,p.Leu349del,ENST00000420881,;	uc010nmz.2	c.1045_1047delCTG	2721-2723/9756	5	5			c.1045_1047delCTG						23	DEL	c.(1045-1047)CTGdel	41	41			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7	Broad	protocadherin 19 isoform b			99662551		0.616	ENSG00000165194	11322	g.chrX:99662549_99662551delCAG	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding																				0.49	1	1	0	1	0	0	0	0	0	--	--		0	-			PCDH19_uc004efw.3_In_Frame_Del_p.L349del|PCDH19_uc004efx.3_In_Frame_Del_p.L349del	100	GBM-06-5418-TP	p.L349del	CAG	TGTTGACTGACAGCAGGTTGATG	NM_020766	NP_001098713	99662549	Q8TAB3	PCD19_HUMAN	0			1	2721_2723	-	-	-			In_Frame_Del	349			Extracellular (Potential).			
PCDH19	57526	broad.mit.edu	GRCh37	X	99662086	99662086	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-5858-01	TCGA-06-5858-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373034.4:c.1510A>G	p.Thr504Ala	p.T504A	ENST00000373034	NM_001184880.1	504	Acc/Gcc	0			1			C	T/A	uc010nmz.2	protein_coding	YES	CCDS55462.1			1510/3447									ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7	c.(1510-1512)ACC>GCC			PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF40,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin 19 isoform b				ENSP00000362125		6-Jan									COSM3406692,COSM3406693	6-Jan	.		ENST00000373034	Transcript	1		homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000165194	g.chrX:99662086T>C	14270			MODERATE		1.515	low	getma.org/?cm=msa&ty=f&p=PCD19_HUMAN&rb=458&re=554&var=T504A	getma.org/pdb.php?prot=PCD19_HUMAN&from=458&to=554&var=T504A	getma.org/?cm=var&var=hg19,X,99662086,T,C&fts=all	T504A	--	--	1																																		PCDH19_uc004efw.3_Missense_Mutation_p.T504A|PCDH19_uc004efx.3_Missense_Mutation_p.T504A	1,1	1		probably_damaging(0.939)	p.T504A	NM_020766	NP_001098713		deleterious(0.01)	1,1	PCD19_HUMAN	PCDH19	HGNC	Q8TAB3	PCD19_HUMAN					1	3186	-			UPI00001D7BCD	504			Cadherin 5.|Extracellular (Potential).		SNV	PCDH19,missense_variant,p.Thr504Ala,ENST00000373034,NM_001184880.1;PCDH19,missense_variant,p.Thr504Ala,ENST00000255531,NM_020766.2,NM_001105243.1;PCDH19,missense_variant,p.Thr504Ala,ENST00000420881,;	uc010nmz.2	c.1510A>G	3186/9756	4	4			c.1510A>G						23	SNP	c.(1510-1512)ACC>GCC	43	43			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7	Broad	protocadherin 19 isoform b			99662086		0.577	ENSG00000165194	11322	g.chrX:99662086T>C	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							53.139295	KEEP	12	18	-1	68	93	12	18	-1	70.024274	68	93	0.173653	1	0	0	0	0	1	0	0	0	--	--		0	C			PCDH19_uc004efw.3_Missense_Mutation_p.T504A|PCDH19_uc004efx.3_Missense_Mutation_p.T504A	102	GBM-06-5858-TP	p.T504A	T	GAGACATAGGTGAAGACAGGC	NM_020766	NP_001098713	99662086	Q8TAB3	PCD19_HUMAN	0			1	3186	-	C	C			Missense_Mutation	504			Cadherin 5.|Extracellular (Potential).			
PCDH19	0	broad.mit.edu	GRCh37	X	99663560	99663562	+	inframe_deletion	In_Frame_Del	DEL	CAG	CAG	-			TCGA-19-5960-01	TCGA-19-5960-01	CAG	CAG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373034.4:c.34_36delCTG	p.Leu12del	p.L12del	ENST00000373034	NM_001184880.1	12	CTG/-	0	-:0.0175		1			-	L/-	uc010nmz.2	protein_coding	YES	CCDS55462.1			34-36/3447									ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7	c.(34-36)CTGdel			Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF40	protocadherin 19 isoform b			-:0.027	ENSP00000362125		6-Jan	0.00103	0.00486	0.00249	0.00491	0.00106	0.00247		0.000346	rs770510483	6-Jan	common_variant		ENST00000373034	Transcript	1		homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000165194	g.chrX:99663560_99663562delCAG	14270			MODERATE								--	--	1																																		PCDH19_uc004efw.3_In_Frame_Del_p.L12del|PCDH19_uc004efx.3_In_Frame_Del_p.L12del		1			p.L12del	NM_020766	NP_001098713				PCD19_HUMAN	PCDH19	HGNC	Q8TAB3	PCD19_HUMAN					1	1710_1712	-			UPI00001D7BCD	12					deletion	PCDH19,inframe_deletion,p.Leu12del,ENST00000373034,NM_001184880.1;PCDH19,inframe_deletion,p.Leu12del,ENST00000255531,NM_020766.2,NM_001105243.1;PCDH19,inframe_deletion,p.Leu12del,ENST00000420881,;	uc010nmz.2	c.34_36delCTG	1710-1712/9756	5	5			c.34_36delCTG						23	DEL	c.(34-36)CTGdel	20	20			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7	Broad	protocadherin 19 isoform b			99663562		0.665	ENSG00000165194	11322	g.chrX:99663560_99663562delCAG	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding																				0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			PCDH19_uc004efw.3_In_Frame_Del_p.L12del|PCDH19_uc004efx.3_In_Frame_Del_p.L12del	178	GBM-19-5960-TP	p.L12del	CAG	ACAGTATGGCCAGCAGCAGCAGC	NM_020766	NP_001098713	99663560	Q8TAB3	PCD19_HUMAN	0			1	1710_1712	-	-	-			In_Frame_Del	12						
PCDH19	0	broad.mit.edu	GRCh37	X	99661954	99661954	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-5222-01	TCGA-32-5222-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373034.4:c.1642A>G	p.Thr548Ala	p.T548A	ENST00000373034	NM_001184880.1	548	Acg/Gcg	0			1			C	T/A	uc010nmz.2	protein_coding	YES	CCDS55462.1			1642/3447									ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7	c.(1642-1644)ACG>GCG			PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF40,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	protocadherin 19 isoform b				ENSP00000362125		6-Jan									rs746112000,COSM3406690,COSM3406691	6-Jan	.		ENST00000373034	Transcript	1		homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000165194	g.chrX:99661954T>C	14270			MODERATE		2.42	medium	getma.org/?cm=msa&ty=f&p=PCD19_HUMAN&rb=458&re=554&var=T548A	getma.org/pdb.php?prot=PCD19_HUMAN&from=458&to=554&var=T548A	getma.org/?cm=var&var=hg19,X,99661954,T,C&fts=all	T548A	--	--	1																																		PCDH19_uc004efw.3_Missense_Mutation_p.T548A|PCDH19_uc004efx.3_Missense_Mutation_p.T548A	0,1,1	1		probably_damaging(0.987)	p.T548A	NM_020766	NP_001098713		deleterious(0)	0,1,1	PCD19_HUMAN	PCDH19	HGNC	Q8TAB3	PCD19_HUMAN					1	3318	-			UPI00001D7BCD	548			Cadherin 5.|Extracellular (Potential).		SNV	PCDH19,missense_variant,p.Thr548Ala,ENST00000373034,NM_001184880.1;PCDH19,missense_variant,p.Thr548Ala,ENST00000255531,NM_020766.2,NM_001105243.1;PCDH19,missense_variant,p.Thr548Ala,ENST00000420881,;	uc010nmz.2	c.1642A>G	3318/9756	3	3			c.1642A>G						23	SNP	c.(1642-1644)ACG>GCG	52	52			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7	Broad	protocadherin 19 isoform b			99661954		0.587	ENSG00000165194	11322	g.chrX:99661954T>C	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							-10.245741	KEEP	4	8	-1	99	105	4	8	-1	29.133687	99	105	0.061224	1	0	0	0	0	1	0	0	0	--	--		0	C			PCDH19_uc004efw.3_Missense_Mutation_p.T548A|PCDH19_uc004efx.3_Missense_Mutation_p.T548A	249	GBM-32-5222-TP	p.T548A	T	ACCCGCACCGTAGCGTTGCTT	NM_020766	NP_001098713	99661954	Q8TAB3	PCD19_HUMAN	0			1	3318	-	C	C			Missense_Mutation	548			Cadherin 5.|Extracellular (Potential).			
PCDH19	57526		GRCh37	X	99662130	99662131	+	frameshift_variant	Frame_Shift_Del	DEL	GA	GA	-			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000373034.4:c.1465_1466del	p.Ser489LeufsTer33	p.S489Lfs*33	ENST00000373034	NM_001184880.1	489	TCc/c	0																																																																																																																																																																																																																																												
PCDH20	64881	broad.mit.edu	GRCh37	13	61985826	61985826	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409186.1:c.2406C>T	p.Gly802=	p.G802=	ENST00000409186		802	ggC/ggT	0			1			A	G	uc001vid.3	protein_coding	YES	CCDS9442.2			2406/2856									ovary(4)|breast(1)|central_nervous_system(1)	6	c.(2404-2406)GGC>GGT			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF24,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin 20				ENSP00000386653		5-May									COSM2151802,COSM2151801	5-May	.		ENST00000409186	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000197991	g.chr13:61985826G>A	14257			LOW								--	--	1																																		PCDH20_uc010thj.1_Silent_p.G802G	1,1	1			p.G802G	NM_022843	NP_073754			1,1	PCD20_HUMAN	PCDH20	HGNC	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	B3KSZ7_HUMAN		2	2770	-		Breast(118;0.195)|Prostate(109;0.229)	UPI000007371F	775			Cadherin 6.|Extracellular (Potential).		SNV	PCDH20,synonymous_variant,p.=,ENST00000409186,;PCDH20,synonymous_variant,p.=,ENST00000409204,NM_022843.3;	uc001vid.3	c.2406C>T	4512/6347	2	2			c.2406C>T						13	SNP	c.(2404-2406)GGC>GGT	34	34			ovary(4)|breast(1)|central_nervous_system(1)	6	Broad	protocadherin 20			61985826		0.488	ENSG00000197991	11323	g.chr13:61985826G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							148.244526	KEEP	24	31	-1	42	31	24	31	-1	148.758765	42	31	0.430894	1	0	0	0	0	0	0	1	0	--	--		0	A			PCDH20_uc010thj.1_Silent_p.G802G	68	GBM-06-0747-TP	p.G802G	G	AAGTAATGTTGCCAGTTTTAG	NM_022843	NP_073754	61985826	Q8N6Y1	PCD20_HUMAN	0		GBM - Glioblastoma multiforme(99;0.000118)	2	2770	-	A	A		Breast(118;0.195)|Prostate(109;0.229)	Silent	775			Cadherin 6.|Extracellular (Potential).			
PCDH20	0	broad.mit.edu	GRCh37	13	61985658	61985658	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-19-1390-01	TCGA-19-1390-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409186.1:c.2574A>G	p.Arg858=	p.R858=	ENST00000409186		858	agA/agG	0			1			C	R	uc001vid.3	protein_coding	YES	CCDS9442.2			2574/2856									ovary(4)|breast(1)|central_nervous_system(1)	6	c.(2572-2574)AGA>AGG			PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF24	protocadherin 20				ENSP00000386653		5-May	1.65E-05							0.000121	rs751799996,COSM3399429,COSM3399428	5-May	.		ENST00000409186	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000197991	g.chr13:61985658T>C	14257			LOW								--	--	1																																		PCDH20_uc010thj.1_Silent_p.R858R	0,1,1	1			p.R858R	NM_022843	NP_073754			0,1,1	PCD20_HUMAN	PCDH20	HGNC	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	B3KSZ7_HUMAN		2	2938	-		Breast(118;0.195)|Prostate(109;0.229)	UPI000007371F	831			Cadherin 6.|Extracellular (Potential).		SNV	PCDH20,synonymous_variant,p.=,ENST00000409186,;PCDH20,synonymous_variant,p.=,ENST00000409204,NM_022843.3;	uc001vid.3	c.2574A>G	4680/6347	3	3			c.2574A>G						13	SNP	c.(2572-2574)AGA>AGG	16	16			ovary(4)|breast(1)|central_nervous_system(1)	6	Broad	protocadherin 20			61985658		0.408	ENSG00000197991	11323	g.chr13:61985658T>C	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							70.510571	KEEP	15	11	-1	53	53	15	11	-1	79.961134	53	53	0.208333	1	0	0	0	0	0	0	1	0	--	--		0	C			PCDH20_uc010thj.1_Silent_p.R858R	159	GBM-19-1390-TP	p.R858R	T	CTGGTTCTTTTCTTAAAAGAC	NM_022843	NP_073754	61985658	Q8N6Y1	PCD20_HUMAN	0		GBM - Glioblastoma multiforme(99;0.000118)	2	2938	-	C	C		Breast(118;0.195)|Prostate(109;0.229)	Silent	831			Cadherin 6.|Extracellular (Potential).			
PCDH20	0	broad.mit.edu	GRCh37	13	61985634	61985634	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5951-01	TCGA-19-5951-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409186.1:c.2598G>A	p.Glu866=	p.E866=	ENST00000409186		866	gaG/gaA	0			1			T	E	uc001vid.3	protein_coding	YES	CCDS9442.2			2598/2856									ovary(4)|breast(1)|central_nervous_system(1)	6	c.(2596-2598)GAG>GAA			hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF24,Low_complexity_(Seg):seg	protocadherin 20				ENSP00000386653		5-May									COSM2156607,COSM2156606	5-May	.		ENST00000409186	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000197991	g.chr13:61985634C>T	14257			LOW								--	--	1																																		PCDH20_uc010thj.1_Silent_p.E866E	1,1	1			p.E866E	NM_022843	NP_073754			1,1	PCD20_HUMAN	PCDH20	HGNC	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	B3KSZ7_HUMAN		2	2962	-		Breast(118;0.195)|Prostate(109;0.229)	UPI000007371F	839			Extracellular (Potential).		SNV	PCDH20,synonymous_variant,p.=,ENST00000409186,;PCDH20,synonymous_variant,p.=,ENST00000409204,NM_022843.3;	uc001vid.3	c.2598G>A	4704/6347	2	2			c.2598G>A						13	SNP	c.(2596-2598)GAG>GAA	35	35			ovary(4)|breast(1)|central_nervous_system(1)	6	Broad	protocadherin 20			61985634		0.393	ENSG00000197991	11323	g.chr13:61985634C>T	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							95.899274	KEEP	13	17	-1	18	15	13	17	-1	95.903091	18	15	0.491228	1	0	0	0	0	0	0	1	0	--	--		0	T			PCDH20_uc010thj.1_Silent_p.E866E	171	GBM-19-5951-TP	p.E866E	C	GTTCTTTCTCCTCTATATTAA	NM_022843	NP_073754	61985634	Q8N6Y1	PCD20_HUMAN	0		GBM - Glioblastoma multiforme(99;0.000118)	2	2962	-	T	T		Breast(118;0.195)|Prostate(109;0.229)	Silent	839			Extracellular (Potential).			
PCDH7	5099	broad.mit.edu	GRCh37	4	30725870	30725870	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0238-01	TCGA-06-0238-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000543491.1:c.2826A>G	p.Lys942=	p.K942=	ENST00000543491		942	aaA/aaG	0			1			G	K	uc003gsk.1	protein_coding		CCDS33971.1			2826/3210									upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4	c.(2824-2826)AAA>AAG			Pfam_domain:PF08374,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF14,Low_complexity_(Seg):seg	protocadherin 7 isoform a precursor				ENSP00000355243		2-Jan									COSM2151081,COSM2151080	2-Jan	.		ENST00000361762	Transcript			homophilic cell adhesion	integral to plasma membrane	calcium ion binding	ENSG00000169851	g.chr4:30725870A>G	8659			LOW								--	--	1																																		PCDH7_uc011bxw.1_Silent_p.K895K|PCDH7_uc011bxx.1_Silent_p.K942K	1,1				p.K942K	NM_002589	NP_002580			1,1	PCDH7_HUMAN	PCDH7	HGNC	O60245	PCDH7_HUMAN					1	3834	+			UPI000013EA2E	942			Cytoplasmic (Potential).		SNV	PCDH7,synonymous_variant,p.=,ENST00000511884,NM_001173523.1,NM_032457.3;PCDH7,synonymous_variant,p.=,ENST00000361762,NM_002589.2;PCDH7,synonymous_variant,p.=,ENST00000543491,;PCDH7,intron_variant,,ENST00000507864,;	uc003gsk.1	c.2826A>G	3834/5398	3	3			c.2826A>G						4	SNP	c.(2824-2826)AAA>AAG	14	14			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4	Broad	protocadherin 7 isoform a precursor			30725870		0.413	ENSG00000169851	11324	g.chr4:30725870A>G	homophilic cell adhesion	integral to plasma membrane	calcium ion binding							149.25429	KEEP	27	25	-1	41	36	27	25	-1	150.248046	41	36	0.4	1	0	0	0	0	0	0	1	0	--	--		0	G			PCDH7_uc011bxw.1_Silent_p.K895K|PCDH7_uc011bxx.1_Silent_p.K942K	55	GBM-06-0238-TP	p.K942K	A	AAAACAAAAAATCTAAGCAGC	NM_002589	NP_002580	30725870	O60245	PCDH7_HUMAN	0			1	3834	+	G	G			Silent	942			Cytoplasmic (Potential).			
PCDH7	5099	broad.mit.edu	GRCh37	4	30724267	30724267	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0648-01	TCGA-06-0648-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000543491.1:c.1223A>G	p.Glu408Gly	p.E408G	ENST00000543491		408	gAg/gGg	0			1			G	E/G	uc003gsk.1	protein_coding		CCDS33971.1			1223/3210									upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4	c.(1222-1224)GAG>GGG			Gene3D:2.60.40.60,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF14,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin 7 isoform a precursor				ENSP00000355243		2-Jan									COSM2151350,COSM2151349	2-Jan	.		ENST00000361762	Transcript			homophilic cell adhesion	integral to plasma membrane	calcium ion binding	ENSG00000169851	g.chr4:30724267A>G	8659			MODERATE		2.705	medium	getma.org/?cm=msa&ty=f&p=PCDH7_HUMAN&rb=309&re=415&var=E408G	getma.org/pdb.php?prot=PCDH7_HUMAN&from=309&to=415&var=E408G	getma.org/?cm=var&var=hg19,4,30724267,A,G&fts=all	E408G	--	--	1																																		PCDH7_uc011bxw.1_Missense_Mutation_p.E361G|PCDH7_uc011bxx.1_Missense_Mutation_p.E408G	1,1			probably_damaging(0.996)	p.E408G	NM_002589	NP_002580		tolerated(0.13)	1,1	PCDH7_HUMAN	PCDH7	HGNC	O60245	PCDH7_HUMAN					1	2231	+			UPI000013EA2E	408			Cadherin 3.|Extracellular (Potential).		SNV	PCDH7,missense_variant,p.Glu98Gly,ENST00000511884,NM_001173523.1,NM_032457.3;PCDH7,missense_variant,p.Glu408Gly,ENST00000361762,NM_002589.2;PCDH7,missense_variant,p.Glu408Gly,ENST00000543491,;PCDH7,upstream_gene_variant,,ENST00000507864,;	uc003gsk.1	c.1223A>G	2231/5398	3	3			c.1223A>G						4	SNP	c.(1222-1224)GAG>GGG	52	52			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4	Broad	protocadherin 7 isoform a precursor			30724267		0.642	ENSG00000169851	11324	g.chr4:30724267A>G	homophilic cell adhesion	integral to plasma membrane	calcium ion binding							98.468527	KEEP	20	16	-1	16	27	20	16	-1	98.731379	16	27	0.432836	1	0	0	0	0	1	0	0	0	--	--		0	G			PCDH7_uc011bxw.1_Missense_Mutation_p.E361G|PCDH7_uc011bxx.1_Missense_Mutation_p.E408G	61	GBM-06-0648-TP	p.E408G	A	ATCAAAGACGAGAACGACAAC	NM_002589	NP_002580	30724267	O60245	PCDH7_HUMAN	0			1	2231	+	G	G			Missense_Mutation	408			Cadherin 3.|Extracellular (Potential).			
PCDH7	0	broad.mit.edu	GRCh37	4	30726111	30726111	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-12-3652-01	TCGA-12-3652-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361762.2:c.3067G>T	p.Asp1023Tyr	p.D1023Y	ENST00000361762	NM_002589.2	1023	Gat/Tat	0			1			T	D/Y	uc003gsk.1	protein_coding		CCDS33971.1			3067/3210									upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4	c.(3067-3069)GAT>TAT			Pfam_domain:PF08374,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF14	protocadherin 7 isoform a precursor				ENSP00000355243		2-Jan									COSM3409253,COSM3409252	2-Jan	.		ENST00000361762	Transcript			homophilic cell adhesion	integral to plasma membrane	calcium ion binding	ENSG00000169851	g.chr4:30726111G>T	8659			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=PCDH7_HUMAN&rb=842&re=1055&var=D1023Y	NA	getma.org/?cm=var&var=hg19,4,30726111,G,T&fts=all	D1023Y	--	--	1																																		PCDH7_uc011bxw.1_Missense_Mutation_p.D976Y|PCDH7_uc011bxx.1_Missense_Mutation_p.D1023Y	1,1			probably_damaging(0.975)	p.D1023Y	NM_002589	NP_002580		deleterious(0)	1,1	PCDH7_HUMAN	PCDH7	HGNC	O60245	PCDH7_HUMAN					1	4075	+			UPI000013EA2E	1023			Cytoplasmic (Potential).		SNV	PCDH7,missense_variant,p.Asp713Tyr,ENST00000511884,NM_001173523.1,NM_032457.3;PCDH7,missense_variant,p.Asp1023Tyr,ENST00000361762,NM_002589.2;PCDH7,missense_variant,p.Asp1023Tyr,ENST00000543491,;PCDH7,non_coding_transcript_exon_variant,,ENST00000507864,;	uc003gsk.1	c.3067G>T	4075/5398	1	1			c.3067G>T						4	SNP	c.(3067-3069)GAT>TAT	3	3			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4	Broad	protocadherin 7 isoform a precursor			30726111		0.468	ENSG00000169851	11324	g.chr4:30726111G>T	homophilic cell adhesion	integral to plasma membrane	calcium ion binding							114.958137	KEEP	18	26	0.409090909	22	21	18	26	0.409090909	114.969783	22	21	0.487805	1	0	0	0	0	1	0	0	0	--	--		0	T			PCDH7_uc011bxw.1_Missense_Mutation_p.D976Y|PCDH7_uc011bxx.1_Missense_Mutation_p.D1023Y	127	GBM-12-3652-TP	p.D1023Y	G	GGCCGTACAAGATCTACCACC	NM_002589	NP_002580	30726111	O60245	PCDH7_HUMAN	0			1	4075	+	T	T			Missense_Mutation	1023			Cytoplasmic (Potential).			
PCDH7	0	broad.mit.edu	GRCh37	4	30725505	30725505	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-32-1977-01	TCGA-32-1977-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361762.2:c.2461delG	p.Val821Ter	p.V821*	ENST00000361762	NM_002589.2	821	Gtg/tg	0			1			-	V/X	uc003gsk.1	protein_coding		CCDS33971.1			2461/3210									upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4	c.(2461-2463)GTGfs			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF14,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin 7 isoform a precursor				ENSP00000355243		2-Jan										2-Jan	.		ENST00000361762	Transcript			homophilic cell adhesion	integral to plasma membrane	calcium ion binding	ENSG00000169851	g.chr4:30725505delG	8659			HIGH								--	--	1																																		PCDH7_uc011bxw.1_Frame_Shift_Del_p.V774fs|PCDH7_uc011bxx.1_Frame_Shift_Del_p.V821fs					p.V821fs	NM_002589	NP_002580				PCDH7_HUMAN	PCDH7	HGNC	O60245	PCDH7_HUMAN					1	3469	+			UPI000013EA2E	821			Extracellular (Potential).|Cadherin 7.		deletion	PCDH7,frameshift_variant,p.Val511Ter,ENST00000511884,NM_001173523.1,NM_032457.3;PCDH7,frameshift_variant,p.Val821Ter,ENST00000361762,NM_002589.2;PCDH7,frameshift_variant,p.Val821Ter,ENST00000543491,;PCDH7,intron_variant,,ENST00000507864,;	uc003gsk.1	c.2461delG	3469/5398	5	5			c.2461delG						4	DEL	c.(2461-2463)GTGfs	55	55			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4	Broad	protocadherin 7 isoform a precursor			30725505		0.483	ENSG00000169851	11324	g.chr4:30725505delG	homophilic cell adhesion	integral to plasma membrane	calcium ion binding																				0.32	1	1	0	1	0	0	0	0	0	--	--		0	-			PCDH7_uc011bxw.1_Frame_Shift_Del_p.V774fs|PCDH7_uc011bxx.1_Frame_Shift_Del_p.V821fs	229	GBM-32-1977-TP	p.V821fs	G	GGTGGTGCAAGTGAATGACAG	NM_002589	NP_002580	30725505	O60245	PCDH7_HUMAN	0			1	3469	+	-	-			Frame_Shift_Del	821			Extracellular (Potential).|Cadherin 7.			
PCDH9	0	broad.mit.edu	GRCh37	13	67802278	67802279	+	frameshift_variant	Frame_Shift_Del	DEL	CA	CA	-			TCGA-41-2575-01	TCGA-41-2575-01	CA	CA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377865.2:c.294_295delTG	p.Ala99TrpfsTer6	p.A99Wfs*6	ENST00000377865		98	tgTGct/tgct	0			1			-	CA/CX	uc001vik.2	protein_coding		CCDS9444.1			294-295/3714									ovary(4)|pancreas(1)|skin(1)	6	c.(292-297)TGTGCTfs			PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF25,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF08266,SMART_domains:SM00112	protocadherin 9 isoform 1 precursor				ENSP00000367096		4-Jan										4-Jan	.		ENST00000377865	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000184226	g.chr13:67802278_67802279delCA	8661			HIGH								--	--	1																																		PCDH9_uc001vil.2_Frame_Shift_Del_p.C98fs|PCDH9_uc010thl.1_Frame_Shift_Del_p.C98fs|PCDH9_uc001vin.3_Frame_Shift_Del_p.C98fs					p.C98fs	NM_203487	NP_982354				PCDH9_HUMAN	PCDH9	HGNC	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)			2	986_987	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	UPI00001FCE90	98_99			Extracellular (Potential).|Cadherin 1.		deletion	PCDH9,frameshift_variant,p.Ala99TrpfsTer6,ENST00000544246,NM_203487.2;PCDH9,frameshift_variant,p.Ala99TrpfsTer6,ENST00000456367,NM_020403.4;PCDH9,frameshift_variant,p.Ala99TrpfsTer6,ENST00000377865,;PCDH9,frameshift_variant,p.Ala99TrpfsTer6,ENST00000377861,;PCDH9,frameshift_variant,p.Ala99TrpfsTer6,ENST00000328454,;	uc001vik.2	c.294_295delTG	429-430/5667	5	5			c.294_295delTG						13	DEL	c.(292-297)TGTGCTfs	63	63			ovary(4)|pancreas(1)|skin(1)	6	Broad	protocadherin 9 isoform 1 precursor			67802279		0.436	ENSG00000184226	11326	g.chr13:67802278_67802279delCA	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding																				0.39	1	1	0	1	0	0	0	0	0	--	--		0	-			PCDH9_uc001vil.2_Frame_Shift_Del_p.C98fs|PCDH9_uc010thl.1_Frame_Shift_Del_p.C98fs|PCDH9_uc001vin.3_Frame_Shift_Del_p.C98fs	253	GBM-41-2575-TP	p.C98fs	CA	GAGGCGCCAGCACAGAGTTTTT	NM_203487	NP_982354	67802278	Q9HC56	PCDH9_HUMAN	0		GBM - Glioblastoma multiforme(99;0.00819)	2	986_987	-	-	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	Frame_Shift_Del	98_99			Extracellular (Potential).|Cadherin 1.			
PCDHA1	56147	broad.mit.edu	GRCh37	5	140167909	140167909	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-02-0033-01	TCGA-02-0033-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504120.2:c.2034G>A	p.Ala678=	p.A678=	ENST00000504120	NM_018900.2	678	gcG/gcA	0		A:0	1	A:0		A	A	uc003lhb.2	protein_coding	YES	CCDS54913.1			2034/2853									skin(1)	1	c.(2032-2034)GCG>GCA			PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF92	protocadherin alpha 1 isoform 1 precursor		A:0		ENSP00000420840	A:0.001	4-Jan	8.24E-06				0.000151				rs562110007,COSM237925,COSM237926	4-Jan	.		ENST00000504120	Transcript		A:0.0002	homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	ENSG00000204970	g.chr5:140167909G>A	8663			LOW								--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Silent_p.A678A	0,1,1	1			p.A678A	NM_018900	NP_061723	A:0		0,1,1	PCDA1_HUMAN	PCDHA1	HGNC	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	2034	+			UPI00001273C7	678			Cadherin 6.|Extracellular (Potential).		SNV	PCDHA1,synonymous_variant,p.=,ENST00000504120,NM_018900.2;PCDHA1,synonymous_variant,p.=,ENST00000378133,NM_031410.1;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;	uc003lhb.2	c.2034G>A	2034/5260	1	1			c.2034G>A						5	SNP	c.(2032-2034)GCG>GCA	52	52			skin(1)	1	Broad	protocadherin alpha 1 isoform 1 precursor			140167909		0.662	ENSG00000204970	11327	g.chr5:140167909G>A	homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding							41.513315	KEEP	13	11	-1	44	38	13	11	-1	45.785247	44	38	0.246575	1	0	0	0	0	0	0	1	0	--	--		0	A			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Silent_p.A678A	2	GBM-02-0033-TP	p.A678A	G	CGCCAAAGGCGTCTTCGCGGG	NM_018900	NP_061723	140167909	Q9Y5I3	PCDA1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2034	+	A	A			Silent	678			Cadherin 6.|Extracellular (Potential).			
PCDHA1	56147	broad.mit.edu	GRCh37	5	140166017	140166017	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504120.2:c.142G>A	p.Val48Ile	p.V48I	ENST00000504120	NM_018900.2	48	Gtt/Att	0			1			A	V/I	uc003lhb.2	protein_coding	YES	CCDS54913.1			142/2853									skin(1)	1	c.(142-144)GTT>ATT			Gene3D:2.60.40.60,Pfam_domain:PF08266,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF92,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin alpha 1 isoform 1 precursor				ENSP00000420840		4-Jan	1.65E-05					3.01E-05			rs782203644,COSM293773,COSM293774	4-Jan	.		ENST00000504120	Transcript			homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	ENSG00000204970	g.chr5:140166017G>A	8663			MODERATE		-1.98	neutral	getma.org/?cm=msa&ty=f&p=PCDA1_HUMAN&rb=29&re=112&var=V48I	getma.org/pdb.php?prot=PCDA1_HUMAN&from=29&to=112&var=V48I	getma.org/?cm=var&var=hg19,5,140166017,G,A&fts=all	V48I	--	--	1																																		PCDHA1_uc003lha.2_Missense_Mutation_p.V48I|PCDHA1_uc003lgz.2_Missense_Mutation_p.V48I	0,1,1	1		benign(0.003)	p.V48I	NM_018900	NP_061723		tolerated_low_confidence(1)	0,1,1	PCDA1_HUMAN	PCDHA1	HGNC	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	142	+			UPI00001273C7	48			Cadherin 1.|Extracellular (Potential).		SNV	PCDHA1,missense_variant,p.Val48Ile,ENST00000504120,NM_018900.2;PCDHA1,missense_variant,p.Val48Ile,ENST00000394633,NM_031411.1;PCDHA1,missense_variant,p.Val48Ile,ENST00000378133,NM_031410.1;	uc003lhb.2	c.142G>A	142/5260	1	1			c.142G>A						5	SNP	c.(142-144)GTT>ATT	53	53			skin(1)	1	Broad	protocadherin alpha 1 isoform 1 precursor			140166017		0.627	ENSG00000204970	11327	g.chr5:140166017G>A	homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding							165.540617	KEEP	39	26	-1	50	49	39	26	-1	167.341901	50	49	0.38255	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDHA1_uc003lha.2_Missense_Mutation_p.V48I|PCDHA1_uc003lgz.2_Missense_Mutation_p.V48I	23	GBM-06-0145-TP	p.V48I	G	CGTTGGCCGCGTTGCTCAGGA	NM_018900	NP_061723	140166017	Q9Y5I3	PCDA1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	142	+	A	A			Missense_Mutation	48			Cadherin 1.|Extracellular (Potential).			
PCDHA1	56147	broad.mit.edu	GRCh37	5	140167621	140167621	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0238-01	TCGA-06-0238-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504120.2:c.1746G>A	p.Pro582=	p.P582=	ENST00000504120	NM_018900.2	582	ccG/ccA	0			1			A	P	uc003lhb.2	protein_coding	YES	CCDS54913.1			1746/2853									skin(1)	1	c.(1744-1746)CCG>CCA			hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF92,Superfamily_domains:SSF49313	protocadherin alpha 1 isoform 1 precursor				ENSP00000420840		4-Jan									COSM3409795,COSM3409794	4-Jan	.		ENST00000504120	Transcript			homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	ENSG00000204970	g.chr5:140167621G>A	8663			LOW								--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Silent_p.P582P	1,1	1			p.P582P	NM_018900	NP_061723			1,1	PCDA1_HUMAN	PCDHA1	HGNC	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1746	+			UPI00001273C7	582			Extracellular (Potential).		SNV	PCDHA1,synonymous_variant,p.=,ENST00000504120,NM_018900.2;PCDHA1,synonymous_variant,p.=,ENST00000378133,NM_031410.1;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;	uc003lhb.2	c.1746G>A	1746/5260	1	1			c.1746G>A						5	SNP	c.(1744-1746)CCG>CCA	63	63			skin(1)	1	Broad	protocadherin alpha 1 isoform 1 precursor			140167621		0.657	ENSG00000204970	11327	g.chr5:140167621G>A	homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding							114.913787	KEEP	30	24	-1	54	37	30	24	-1	117.072711	54	37	0.355932	1	0	0	0	0	0	0	1	0	--	--		0	A			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Silent_p.P582P	55	GBM-06-0238-TP	p.P582P	G	AGCTGGTGCCGCGATTGGTGG	NM_018900	NP_061723	140167621	Q9Y5I3	PCDA1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1746	+	A	A			Silent	582			Extracellular (Potential).			
PCDHA1	56147	broad.mit.edu	GRCh37	5	140166149	140166149	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01	TCGA-06-0939-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504120.2:c.274C>T	p.Arg92Cys	p.R92C	ENST00000504120	NM_018900.2	92	Cgc/Tgc	0			1			T	R/C	uc003lhb.2	protein_coding	YES	CCDS54913.1			274/2853									skin(1)	1	c.(274-276)CGC>TGC			Gene3D:2.60.40.60,Pfam_domain:PF08266,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF92,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin alpha 1 isoform 1 precursor				ENSP00000420840		4-Jan									COSM3409787,COSM3409786	4-Jan	.		ENST00000504120	Transcript			homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	ENSG00000204970	g.chr5:140166149C>T	8663			MODERATE		4.67	high	getma.org/?cm=msa&ty=f&p=PCDA1_HUMAN&rb=29&re=112&var=R92C	getma.org/pdb.php?prot=PCDA1_HUMAN&from=29&to=112&var=R92C	getma.org/?cm=var&var=hg19,5,140166149,C,T&fts=all	R92C	--	--	1																																		PCDHA1_uc003lha.2_Missense_Mutation_p.R92C|PCDHA1_uc003lgz.2_Missense_Mutation_p.R92C	1,1	1		probably_damaging(0.999)	p.R92C	NM_018900	NP_061723		deleterious_low_confidence(0)	1,1	PCDA1_HUMAN	PCDHA1	HGNC	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	274	+			UPI00001273C7	92			Cadherin 1.|Extracellular (Potential).		SNV	PCDHA1,missense_variant,p.Arg92Cys,ENST00000504120,NM_018900.2;PCDHA1,missense_variant,p.Arg92Cys,ENST00000394633,NM_031411.1;PCDHA1,missense_variant,p.Arg92Cys,ENST00000378133,NM_031410.1;	uc003lhb.2	c.274C>T	274/5260	2	2			c.274C>T						5	SNP	c.(274-276)CGC>TGC	34	34			skin(1)	1	Broad	protocadherin alpha 1 isoform 1 precursor			140166149		0.567	ENSG00000204970	11327	g.chr5:140166149C>T	homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding							-14.813708	KEEP	7	5	-1	96	109	7	5	-1	21.659061	96	109	0.060773	1	0	0	0	0	1	0	0	0	--	--		0	T			PCDHA1_uc003lha.2_Missense_Mutation_p.R92C|PCDHA1_uc003lgz.2_Missense_Mutation_p.R92C	78	GBM-06-0939-TP	p.R92C	C	TCGGATCGATCGCGAGGAGCT	NM_018900	NP_061723	140166149	Q9Y5I3	PCDA1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	274	+	T	T			Missense_Mutation	92			Cadherin 1.|Extracellular (Potential).			
PCDHA1	0	broad.mit.edu	GRCh37	5	140167728	140167728	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01	TCGA-19-2631-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504120.2:c.1853C>T	p.Ala618Val	p.A618V	ENST00000504120	NM_018900.2	618	gCg/gTg	0			1			T	A/V	uc003lhb.2	protein_coding	YES	CCDS54913.1			1853/2853									skin(1)	1	c.(1852-1854)GCG>GTG			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF92,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin alpha 1 isoform 1 precursor				ENSP00000420840		4-Jan									COSM2156373,COSM2156372	4-Jan	.		ENST00000504120	Transcript			homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	ENSG00000204970	g.chr5:140167728C>T	8663			MODERATE		0.77	neutral	getma.org/?cm=msa&ty=f&p=PCDA1_HUMAN&rb=579&re=670&var=A618V	getma.org/pdb.php?prot=PCDA1_HUMAN&from=579&to=670&var=A618V	getma.org/?cm=var&var=hg19,5,140167728,C,T&fts=all	A618V	--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.A618V	1,1	1		benign(0.1)	p.A618V	NM_018900	NP_061723		tolerated_low_confidence(0.18)	1,1	PCDA1_HUMAN	PCDHA1	HGNC	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1853	+			UPI00001273C7	618			Cadherin 6.|Extracellular (Potential).		SNV	PCDHA1,missense_variant,p.Ala618Val,ENST00000504120,NM_018900.2;PCDHA1,missense_variant,p.Ala618Val,ENST00000378133,NM_031410.1;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;	uc003lhb.2	c.1853C>T	1853/5260	2	2			c.1853C>T						5	SNP	c.(1852-1854)GCG>GTG	47	47			skin(1)	1	Broad	protocadherin alpha 1 isoform 1 precursor			140167728		0.672	ENSG00000204970	11327	g.chr5:140167728C>T	homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding							191.522623	KEEP	39	55	-1	38	47	39	55	-1	191.570365	38	47	0.52	1	0	0	0	0	1	0	0	0	--	--		0	T			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.A618V	167	GBM-19-2631-TP	p.A618V	C	GCAGGCGGCGCGCGCATCCCG	NM_018900	NP_061723	140167728	Q9Y5I3	PCDA1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1853	+	T	T			Missense_Mutation	618			Cadherin 6.|Extracellular (Potential).			
PCDHA1	0	broad.mit.edu	GRCh37	5	140167207	140167207	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-1832-01	TCGA-27-1832-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504120.2:c.1332G>A	p.Glu444=	p.E444=	ENST00000504120	NM_018900.2	444	gaG/gaA	0			1			A	E	uc003lhb.2	protein_coding	YES	CCDS54913.1			1332/2853									skin(1)	1	c.(1330-1332)GAG>GAA			Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF92,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313	protocadherin alpha 1 isoform 1 precursor				ENSP00000420840		4-Jan									COSM3409791,COSM3409790	4-Jan	.		ENST00000504120	Transcript			homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	ENSG00000204970	g.chr5:140167207G>A	8663			LOW								--	--	1																																		PCDHA1_uc003lha.2_Silent_p.E444E|PCDHA1_uc003lgz.2_Silent_p.E444E	1,1	1			p.E444E	NM_018900	NP_061723			1,1	PCDA1_HUMAN	PCDHA1	HGNC	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1332	+			UPI00001273C7	444			Cadherin 4.|Extracellular (Potential).		SNV	PCDHA1,synonymous_variant,p.=,ENST00000504120,NM_018900.2;PCDHA1,synonymous_variant,p.=,ENST00000394633,NM_031411.1;PCDHA1,synonymous_variant,p.=,ENST00000378133,NM_031410.1;	uc003lhb.2	c.1332G>A	1332/5260	1	1			c.1332G>A						5	SNP	c.(1330-1332)GAG>GAA	63	63			skin(1)	1	Broad	protocadherin alpha 1 isoform 1 precursor			140167207		0.667	ENSG00000204970	11327	g.chr5:140167207G>A	homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding							191.219324	KEEP	45	31	-1	133	85	45	31	-1	202.433716	133	85	0.277778	1	0	0	0	0	0	0	1	0	--	--		0	A			PCDHA1_uc003lha.2_Silent_p.E444E|PCDHA1_uc003lgz.2_Silent_p.E444E	191	GBM-27-1832-TP	p.E444E	G	TGTCCGTGGAGGTGGCCGACG	NM_018900	NP_061723	140167207	Q9Y5I3	PCDA1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1332	+	A	A			Silent	444			Cadherin 4.|Extracellular (Potential).			
PCDHA1	0	broad.mit.edu	GRCh37	5	140167729	140167729	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5208-01	TCGA-28-5208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504120.2:c.1854G>A	p.Ala618=	p.A618=	ENST00000504120	NM_018900.2	618	gcG/gcA	0		T:0	1	T:0		A	A	uc003lhb.2	protein_coding	YES	CCDS54913.1			1854/2853									skin(1)	1	c.(1852-1854)GCG>GCA			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF92,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin alpha 1 isoform 1 precursor		T:0.001		ENSP00000420840	T:0	4-Jan	8.24E-06					1.51E-05			rs543937372,COSM1486350,COSM1486349	4-Jan	.		ENST00000504120	Transcript		T:0.0002	homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	ENSG00000204970	g.chr5:140167729G>A	8663			LOW								--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Silent_p.A618A	0,1,1	1			p.A618A	NM_018900	NP_061723	T:0		0,1,1	PCDA1_HUMAN	PCDHA1	HGNC	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1854	+			UPI00001273C7	618			Cadherin 6.|Extracellular (Potential).		SNV	PCDHA1,synonymous_variant,p.=,ENST00000504120,NM_018900.2;PCDHA1,synonymous_variant,p.=,ENST00000378133,NM_031410.1;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;	uc003lhb.2	c.1854G>A	1854/5260	2	2			c.1854G>A						5	SNP	c.(1852-1854)GCG>GCA	41	41			skin(1)	1	Broad	protocadherin alpha 1 isoform 1 precursor			140167729		0.667	ENSG00000204970	11327	g.chr5:140167729G>A	homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding							238.90392	KEEP	39	55	-1	43	51	39	55	-1	239.018306	43	51	0.528302	1	0	0	0	0	0	0	1	0	--	--		0	A			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Silent_p.A618A	217	GBM-28-5208-TP	p.A618A	G	CAGGCGGCGCGCGCATCCCGT	NM_018900	NP_061723	140167729	Q9Y5I3	PCDA1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1854	+	A	A			Silent	618			Cadherin 6.|Extracellular (Potential).			
PCDHA1	0	broad.mit.edu	GRCh37	5	140166327	140166327	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5216-01	TCGA-28-5216-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504120.2:c.452G>A	p.Arg151His	p.R151H	ENST00000504120	NM_018900.2	151	cGt/cAt	0			1			A	R/H	uc003lhb.2	protein_coding	YES	CCDS54913.1			452/2853									skin(1)	1	c.(451-453)CGT>CAT			Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF92,Superfamily_domains:SSF49313	protocadherin alpha 1 isoform 1 precursor				ENSP00000420840		4-Jan									COSM1219530,COSM1219529	4-Jan	.		ENST00000504120	Transcript			homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	ENSG00000204970	g.chr5:140166327G>A	8663			MODERATE		2.485	medium	getma.org/?cm=msa&ty=f&p=PCDA1_HUMAN&rb=138&re=233&var=R151H	NA	getma.org/?cm=var&var=hg19,5,140166327,G,A&fts=all	R151H	--	--	1																																		PCDHA1_uc003lha.2_Missense_Mutation_p.R151H|PCDHA1_uc003lgz.2_Missense_Mutation_p.R151H	1,1	1		benign(0.026)	p.R151H	NM_018900	NP_061723		tolerated_low_confidence(0.17)	1,1	PCDA1_HUMAN	PCDHA1	HGNC	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	452	+			UPI00001273C7	151			Extracellular (Potential).		SNV	PCDHA1,missense_variant,p.Arg151His,ENST00000504120,NM_018900.2;PCDHA1,missense_variant,p.Arg151His,ENST00000394633,NM_031411.1;PCDHA1,missense_variant,p.Arg151His,ENST00000378133,NM_031410.1;	uc003lhb.2	c.452G>A	452/5260	2	2			c.452G>A						5	SNP	c.(451-453)CGT>CAT	30	30			skin(1)	1	Broad	protocadherin alpha 1 isoform 1 precursor			140166327		0.448	ENSG00000204970	11327	g.chr5:140166327G>A	homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding							322.823819	KEEP	62	71	-1	88	93	62	71	-1	323.430329	88	93	0.449057	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDHA1_uc003lha.2_Missense_Mutation_p.R151H|PCDHA1_uc003lgz.2_Missense_Mutation_p.R151H	223	GBM-28-5216-TP	p.R151H	G	CTGAATTCGCGTTTTCCGATA	NM_018900	NP_061723	140166327	Q9Y5I3	PCDA1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	452	+	A	A			Missense_Mutation	151			Extracellular (Potential).			
PCDHA1	0	broad.mit.edu	GRCh37	5	140167547	140167547	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504120.2:c.1672G>A	p.Glu558Lys	p.E558K	ENST00000504120	NM_018900.2	558	Gag/Aag	0			1			A	E/K	uc003lhb.2	protein_coding	YES	CCDS54913.1			1672/2853									skin(1)	1	c.(1672-1674)GAG>AAG			Gene3D:2.60.40.60,Prints_domain:PR00205,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF92,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin alpha 1 isoform 1 precursor				ENSP00000420840		4-Jan									COSM3239323,COSM3239322	4-Jan	.		ENST00000504120	Transcript			homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	ENSG00000204970	g.chr5:140167547G>A	8663			MODERATE		1.9	low	getma.org/?cm=msa&ty=f&p=PCDA1_HUMAN&rb=456&re=565&var=E558K	getma.org/pdb.php?prot=PCDA1_HUMAN&from=456&to=565&var=E558K	getma.org/?cm=var&var=hg19,5,140167547,G,A&fts=all	E558K	--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.E558K	1,1	1		benign(0.196)	p.E558K	NM_018900	NP_061723		deleterious_low_confidence(0.02)	1,1	PCDA1_HUMAN	PCDHA1	HGNC	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1672	+			UPI00001273C7	558			Cadherin 5.|Extracellular (Potential).		SNV	PCDHA1,missense_variant,p.Glu558Lys,ENST00000504120,NM_018900.2;PCDHA1,missense_variant,p.Glu558Lys,ENST00000378133,NM_031410.1;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;	uc003lhb.2	c.1672G>A	1672/5260	2	2			c.1672G>A						5	SNP	c.(1672-1674)GAG>AAG	41	41			skin(1)	1	Broad	protocadherin alpha 1 isoform 1 precursor			140167547		0.672	ENSG00000204970	11327	g.chr5:140167547G>A	homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding							79.53648	KEEP	18	18	-1	87	71	18	18	-1	91.397402	87	71	0.217391	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.E558K	232	GBM-32-1982-TP	p.E558K	G	CGTGCTGGACGAGAACGACAA	NM_018900	NP_061723	140167547	Q9Y5I3	PCDA1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1672	+	A	A			Missense_Mutation	558			Cadherin 5.|Extracellular (Potential).			
PCDHA1	0	broad.mit.edu	GRCh37	5	140166089	140166089	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-41-3392-01	TCGA-41-3392-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504120.2:c.214A>G	p.Arg72Gly	p.R72G	ENST00000504120	NM_018900.2	72	Agg/Ggg	0			1			G	R/G	uc003lhb.2	protein_coding	YES	CCDS54913.1			214/2853									skin(1)	1	c.(214-216)AGG>GGG			Gene3D:2.60.40.60,Pfam_domain:PF08266,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF92,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin alpha 1 isoform 1 precursor				ENSP00000420840		4-Jan	2.47E-05					4.52E-05			rs782682818,COSM3409785,COSM3409784	4-Jan	.		ENST00000504120	Transcript			homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	ENSG00000204970	g.chr5:140166089A>G	8663			MODERATE		-0.005	neutral	getma.org/?cm=msa&ty=f&p=PCDA1_HUMAN&rb=29&re=112&var=R72G	getma.org/pdb.php?prot=PCDA1_HUMAN&from=29&to=112&var=R72G	getma.org/?cm=var&var=hg19,5,140166089,A,G&fts=all	R72G	--	--	1																																		PCDHA1_uc003lha.2_Missense_Mutation_p.R72G|PCDHA1_uc003lgz.2_Missense_Mutation_p.R72G	0,1,1	1		benign(0.003)	p.R72G	NM_018900	NP_061723		tolerated_low_confidence(1)	0,1,1	PCDA1_HUMAN	PCDHA1	HGNC	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	214	+			UPI00001273C7	72			Cadherin 1.|Extracellular (Potential).		SNV	PCDHA1,missense_variant,p.Arg72Gly,ENST00000504120,NM_018900.2;PCDHA1,missense_variant,p.Arg72Gly,ENST00000394633,NM_031411.1;PCDHA1,missense_variant,p.Arg72Gly,ENST00000378133,NM_031410.1;	uc003lhb.2	c.214A>G	214/5260	3	3			c.214A>G						5	SNP	c.(214-216)AGG>GGG	8	8			skin(1)	1	Broad	protocadherin alpha 1 isoform 1 precursor			140166089		0.592	ENSG00000204970	11327	g.chr5:140166089A>G	homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding							-12.323703	KEEP	4	7	-1	93	82	4	7	-1	20.703532	93	82	0.065476	1	0	0	0	0	1	0	0	0	--	--		0	G			PCDHA1_uc003lha.2_Missense_Mutation_p.R72G|PCDHA1_uc003lgz.2_Missense_Mutation_p.R72G	254	GBM-41-3392-TP	p.R72G	A	CAAAACACACAGGGACCTTCT	NM_018900	NP_061723	140166089	Q9Y5I3	PCDA1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	214	+	G	G			Missense_Mutation	72			Cadherin 1.|Extracellular (Potential).			
PCDHA1	0	broad.mit.edu	GRCh37	5	140167119	140167119	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504120.2:c.1244G>A	p.Arg415His	p.R415H	ENST00000504120	NM_018900.2	415	cGc/cAc	0		A:0.0008	1	A:0		A	R/H	uc003lhb.2	protein_coding	YES	CCDS54913.1			1244/2853									skin(1)	1	c.(1243-1245)CGC>CAC			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF92,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin alpha 1 isoform 1 precursor		A:0		ENSP00000420840	A:0	4-Jan	8.24E-06	9.62E-05							rs568406742,COSM3409789,COSM3409788	4-Jan	.		ENST00000504120	Transcript		A:0.0002	homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	ENSG00000204970	g.chr5:140167119G>A	8663			MODERATE		2.385	medium	getma.org/?cm=msa&ty=f&p=PCDA1_HUMAN&rb=356&re=446&var=R415H	getma.org/pdb.php?prot=PCDA1_HUMAN&from=356&to=446&var=R415H	getma.org/?cm=var&var=hg19,5,140167119,G,A&fts=all	R415H	2.195	medium	1																																		PCDHA1_uc003lha.2_Missense_Mutation_p.R415H|PCDHA1_uc003lgz.2_Missense_Mutation_p.R415H	0,1,1	1		benign(0.405)	p.R415H	NM_018900	NP_061723	A:0	deleterious_low_confidence(0.03)	0,1,1	PCDA1_HUMAN	PCDHA1	HGNC	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1244	+			UPI00001273C7	415			Cadherin 4.|Extracellular (Potential).		SNV	PCDHA1,missense_variant,p.Arg415His,ENST00000504120,NM_018900.2;PCDHA1,missense_variant,p.Arg415His,ENST00000394633,NM_031411.1;PCDHA1,missense_variant,p.Arg415His,ENST00000378133,NM_031410.1;	uc003lhb.2	c.1244G>A	1244/5260	2	2			c.1244G>A						5	SNP	c.(1243-1245)CGC>CAC	41	41			skin(1)	1	Broad	protocadherin alpha 1 isoform 1 precursor			140167119		0.637	ENSG00000204970	11327	g.chr5:140167119G>A	homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding							306.331584	KEEP	68	60	-1	99	76	68	60	-1	308.162005	99	76	0.409962	1	0	0	0	0	1	0	0	0	2.195	medium		0	A			PCDHA1_uc003lha.2_Missense_Mutation_p.R415H|PCDHA1_uc003lgz.2_Missense_Mutation_p.R415H	271	GBM-76-4932-TP	p.R415H	G	GCCCTGGATCGCGAGAGCCTG	NM_018900	NP_061723	140167119	Q9Y5I3	PCDA1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1244	+	A	A			Missense_Mutation	415			Cadherin 4.|Extracellular (Potential).			
PCDHA1	56147		GRCh37	5	140167216	140167216	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0240-01	TCGA-06-0240-01																				ENST00000504120.2:c.1341C>T	p.Asp447=	p.D447=	ENST00000504120	NM_018900.2	447	gaC/gaT	0																																																																																																																																																																																																																																												
PCDHA10	56139	broad.mit.edu	GRCh37	5	140237634	140237634	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-02-2470-01	TCGA-02-2470-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307360.5:c.2001G>A	p.Ser667=	p.S667=	ENST00000307360	NM_018901.2	667	tcG/tcA	0	A:0.0008	A:0	1	A:0.0086		A	S	uc003lhx.2	protein_coding	YES	CCDS54921.1			2001/2847									ovary(2)|skin(2)|breast(1)	5	c.(1999-2001)TCG>TCA			Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028:SF76,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	protocadherin alpha 10 isoform 1 precursor		A:0	A:0.0136	ENSP00000304234	A:0.002	4-Jan	0.00576	0.00124	0.00464		0.00311	0.00925	0.00458	0.00104	rs181372488,COSM3409844,COSM3409845	4-Jan	common_variant		ENST00000307360	Transcript		A:0.0016	homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	ENSG00000250120	g.chr5:140237634G>A	8664			LOW								--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Silent_p.S667S	0,1,1	1			p.S667S	NM_018901	NP_061724	A:0		0,1,1	PCDAA_HUMAN	PCDHA10	HGNC	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	2001	+			UPI00001273D3	667			Extracellular (Potential).|Cadherin 6.		SNV	PCDHA10,synonymous_variant,p.=,ENST00000307360,NM_018901.2;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA10,intron_variant,,ENST00000506939,NM_031860.1;PCDHA6,intron_variant,,ENST00000527624,;PCDHA9,downstream_gene_variant,,ENST00000378122,NM_014005.3;AC005609.1,downstream_gene_variant,,ENST00000502505,;PCDHA14,upstream_gene_variant,,ENST00000562220,;PCDHA14,upstream_gene_variant,,ENST00000506751,;	uc003lhx.2	c.2001G>A	2001/5254	1	1			c.2001G>A						5	SNP	c.(1999-2001)TCG>TCA	49	49			ovary(2)|skin(2)|breast(1)	5	Broad	protocadherin alpha 10 isoform 1 precursor			140237634		0.667	ENSG00000250120	11328	g.chr5:140237634G>A	homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding							21.591252	KEEP	3	7	-1	13	7	3	7	-1	22.310905	13	7	0.32	1	0	0	0	0	0	0	1	0	--	--		0	A			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Silent_p.S667S	5	GBM-02-2470-TP	p.S667S	G	TGCTTGTGTCGCTTGTGGAGG	NM_018901	NP_061724	140237634	Q9Y5I2	PCDAA_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2001	+	A	A			Silent	667			Extracellular (Potential).|Cadherin 6.			
PCDHA10	56139	broad.mit.edu	GRCh37	5	140237348	140237348	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0237-01	TCGA-06-0237-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307360.5:c.1715C>T	p.Ala572Val	p.A572V	ENST00000307360	NM_018901.2	572	gCg/gTg	0			1			T	A/V	uc003lhx.2	protein_coding	YES	CCDS54921.1			1715/2847									ovary(2)|skin(2)|breast(1)	5	c.(1714-1716)GCG>GTG			Low_complexity_(Seg):seg,Superfamily_domains:SSF49313,Gene3D:2.60.40.60,hmmpanther:PTHR24028:SF76,hmmpanther:PTHR24028	protocadherin alpha 10 isoform 1 precursor				ENSP00000304234		4-Jan	8.30E-06							6.11E-05	rs782102895,COSM3409842,COSM3409843	4-Jan	.		ENST00000307360	Transcript			homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	ENSG00000250120	g.chr5:140237348C>T	8664			MODERATE		0.625	neutral	getma.org/?cm=msa&ty=f&p=PCDAA_HUMAN&rb=526&re=610&var=A572V	getma.org/pdb.php?prot=PCDAA_HUMAN&from=556&to=580&var=A572V	getma.org/?cm=var&var=hg19,5,140237348,C,T&fts=all	A572V	--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Missense_Mutation_p.A572V	0,1,1	1		benign(0.006)	p.A572V	NM_018901	NP_061724		tolerated_low_confidence(0.2)	0,1,1	PCDAA_HUMAN	PCDHA10	HGNC	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1715	+			UPI00001273D3	572			Extracellular (Potential).		SNV	PCDHA10,missense_variant,p.Ala572Val,ENST00000307360,NM_018901.2;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA10,intron_variant,,ENST00000506939,NM_031860.1;PCDHA6,intron_variant,,ENST00000527624,;PCDHA9,downstream_gene_variant,,ENST00000378122,NM_014005.3;AC005609.1,downstream_gene_variant,,ENST00000502505,;PCDHA14,upstream_gene_variant,,ENST00000506751,;	uc003lhx.2	c.1715C>T	1715/5254	2	2			c.1715C>T						5	SNP	c.(1714-1716)GCG>GTG	38	38			ovary(2)|skin(2)|breast(1)	5	Broad	protocadherin alpha 10 isoform 1 precursor			140237348		0.682	ENSG00000250120	11328	g.chr5:140237348C>T	homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding							3.882588	KEEP	4	0	-1	18	21	4	0	-1	9.010743	18	21	0.114286	1	0	0	0	0	1	0	0	0	--	--		0	T			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Missense_Mutation_p.A572V	54	GBM-06-0237-TP	p.A572V	C	GCTGGCAGCGCGGGCGGTGCA	NM_018901	NP_061724	140237348	Q9Y5I2	PCDAA_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1715	+	T	T			Missense_Mutation	572			Extracellular (Potential).			
PCDHA10	56139	broad.mit.edu	GRCh37	5	140237259	140237259	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0749-01	TCGA-06-0749-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307360.5:c.1626G>A	p.Pro542=	p.P542=	ENST00000307360	NM_018901.2	542	ccG/ccA	0			1			A	P	uc003lhx.2	protein_coding	YES	CCDS54921.1			1626/2847									ovary(2)|skin(2)|breast(1)	5	c.(1624-1626)CCG>CCA			Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028:SF76,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	protocadherin alpha 10 isoform 1 precursor				ENSP00000304234		4-Jan									COSM3409840,COSM3409841	4-Jan	.		ENST00000307360	Transcript			homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	ENSG00000250120	g.chr5:140237259G>A	8664			LOW								--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Silent_p.P542P	1,1	1			p.P542P	NM_018901	NP_061724			1,1	PCDAA_HUMAN	PCDHA10	HGNC	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1626	+			UPI00001273D3	542			Cadherin 5.|Extracellular (Potential).		SNV	PCDHA10,synonymous_variant,p.=,ENST00000307360,NM_018901.2;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA10,intron_variant,,ENST00000506939,NM_031860.1;PCDHA6,intron_variant,,ENST00000527624,;PCDHA9,downstream_gene_variant,,ENST00000378122,NM_014005.3;AC005609.1,downstream_gene_variant,,ENST00000502505,;PCDHA14,upstream_gene_variant,,ENST00000506751,;	uc003lhx.2	c.1626G>A	1626/5254	2	2			c.1626G>A						5	SNP	c.(1624-1626)CCG>CCA	42	42			ovary(2)|skin(2)|breast(1)	5	Broad	protocadherin alpha 10 isoform 1 precursor			140237259		0.697	ENSG00000250120	11328	g.chr5:140237259G>A	homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding							86.542888	KEEP	25	15	-1	101	53	25	15	-1	97.585471	101	53	0.232143	1	0	0	0	0	0	0	1	0	--	--		0	A			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Silent_p.P542P	69	GBM-06-0749-TP	p.P542P	G	GGGGCGTGCCGCCTCTGGGCA	NM_018901	NP_061724	140237259	Q9Y5I2	PCDAA_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1626	+	A	A			Silent	542			Cadherin 5.|Extracellular (Potential).			
PCDHA10	0	broad.mit.edu	GRCh37	5	140236992	140236992	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307360.5:c.1359G>A	p.Ala453=	p.A453=	ENST00000307360	NM_018901.2	453	gcG/gcA	0	T:0.0005		1			A	A	uc003lhx.2	protein_coding	YES	CCDS54921.1			1359/2847								p.A453A(2)	ovary(2)|skin(2)|breast(1)	5	c.(1357-1359)GCG>GCA			Prints_domain:PR00205,Superfamily_domains:SSF49313,Gene3D:2.60.40.60,hmmpanther:PTHR24028:SF76,hmmpanther:PTHR24028,PROSITE_profiles:PS50268	protocadherin alpha 10 isoform 1 precursor			T:0	ENSP00000304234		4-Jan	8.28E-06					1.52E-05			rs372428918,COSM80304,COSM1261234,COSM80305	4-Jan	.		ENST00000307360	Transcript			homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	ENSG00000250120	g.chr5:140236992G>A	8664			LOW								--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Silent_p.A453A|PCDHA10_uc011dad.1_Silent_p.A453A	0,1,1,1	1			p.A453A	NM_018901	NP_061724			0,1,1,1	PCDAA_HUMAN	PCDHA10	HGNC	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1359	+			UPI00001273D3	453			Cadherin 4.|Extracellular (Potential).		SNV	PCDHA10,synonymous_variant,p.=,ENST00000307360,NM_018901.2;PCDHA10,synonymous_variant,p.=,ENST00000506939,NM_031860.1;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA9,downstream_gene_variant,,ENST00000378122,NM_014005.3;AC005609.1,downstream_gene_variant,,ENST00000502505,;PCDHA14,upstream_gene_variant,,ENST00000506751,;	uc003lhx.2	c.1359G>A	1359/5254	2	2			c.1359G>A						5	SNP	c.(1357-1359)GCG>GCA	31	31		p.A453A(2)	ovary(2)|skin(2)|breast(1)	5	Broad	protocadherin alpha 10 isoform 1 precursor			140236992		0.677	ENSG00000250120	11328	g.chr5:140236992G>A	homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding							187.142095	KEEP	33	43	-1	56	55	33	43	-1	188.446279	56	55	0.403727	1	0	0	0	0	0	0	1	0	--	--		0	A			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Silent_p.A453A|PCDHA10_uc011dad.1_Silent_p.A453A	120	GBM-12-0619-TP	p.A453A	G	ACGCGCCTGCGTTCGCGCAGT	NM_018901	NP_061724	140236992	Q9Y5I2	PCDAA_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1359	+	A	A			Silent	453			Cadherin 4.|Extracellular (Potential).			
PCDHA10	56139		GRCh37	5	140235776	140235776	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000307360.5:c.143C>T	p.Ala48Val	p.A48V	ENST00000307360	NM_018901.2	48	gCg/gTg	0																																																																																																																																																																																																																																												
PCDHA11	56138	broad.mit.edu	GRCh37	5	140250296	140250296	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0174-01	TCGA-06-0174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398640.2:c.1608G>A	p.Ala536=	p.A536=	ENST00000398640	NM_018902.3	536	gcG/gcA	0			1			A	A	uc003lia.2	protein_coding	YES	CCDS47284.1			1608/2850									breast(1)	1	c.(1606-1608)GCG>GCA			Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF68,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin alpha 11 isoform 1 precursor				ENSP00000381636		4-Jan									COSM3409851,COSM3409850	4-Jan	.		ENST00000398640	Transcript			homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	ENSG00000249158	g.chr5:140250296G>A	8665			LOW								--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.A536A	1,1	1			p.A536A	NM_018902	NP_061725			1,1	PCDAB_HUMAN	PCDHA11	HGNC	Q9Y5I1	PCDAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	2466	+			UPI00001273D4	536			Extracellular (Potential).|Cadherin 5.		SNV	PCDHA11,synonymous_variant,p.=,ENST00000398640,NM_018902.3;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA10,intron_variant,,ENST00000307360,NM_018901.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA10,intron_variant,,ENST00000506939,NM_031860.1;PCDHA6,intron_variant,,ENST00000527624,;PCDHA12,upstream_gene_variant,,ENST00000398631,NM_018903.2,NM_031864.2;	uc003lia.2	c.1608G>A	1608/5257	1	1			c.1608G>A						5	SNP	c.(1606-1608)GCG>GCA	50	50			breast(1)	1	Broad	protocadherin alpha 11 isoform 1 precursor			140250296		0.667	ENSG00000249158	11329	g.chr5:140250296G>A	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding							50.558033	KEEP	15	20	-1	69	63	15	20	-1	61.47351	69	63	0.2	1	0	0	0	0	0	0	1	0	--	--		0	A			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.A536A	37	GBM-06-0174-TP	p.A536A	G	AGGTGAGCGCGCGCGATGCGG	NM_018902	NP_061725	140250296	Q9Y5I1	PCDAB_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2466	+	A	A			Silent	536			Extracellular (Potential).|Cadherin 5.			
PCDHA11	0	broad.mit.edu	GRCh37	5	140249928	140249928	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-5955-01	TCGA-19-5955-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398640.2:c.1240C>A	p.Arg414Ser	p.R414S	ENST00000398640	NM_018902.3	414	Cgc/Agc	0	G:0		1			A	R/S	uc003lia.2	protein_coding	YES	CCDS47284.1			1240/2850									breast(1)	1	c.(1240-1242)CGC>AGC			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF68,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin alpha 11 isoform 1 precursor			G:0.0001	ENSP00000381636		4-Jan	8.24E-06		8.64E-05						rs375366430,COSM3409847,COSM3409846	4-Jan	.		ENST00000398640	Transcript			homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	ENSG00000249158	g.chr5:140249928C>A	8665			MODERATE		3.985	high	getma.org/?cm=msa&ty=f&p=PCDAB_HUMAN&rb=354&re=445&var=R414S	getma.org/pdb.php?prot=PCDAB_HUMAN&from=354&to=445&var=R414S	getma.org/?cm=var&var=hg19,5,140249928,C,A&fts=all	R414S	--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.R414S	0,1,1	1		probably_damaging(0.999)	p.R414S	NM_018902	NP_061725		deleterious_low_confidence(0.01)	0,1,1	PCDAB_HUMAN	PCDHA11	HGNC	Q9Y5I1	PCDAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	2098	+			UPI00001273D4	414			Cadherin 4.|Extracellular (Potential).		SNV	PCDHA11,missense_variant,p.Arg414Ser,ENST00000398640,NM_018902.3;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA10,intron_variant,,ENST00000307360,NM_018901.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA10,intron_variant,,ENST00000506939,NM_031860.1;PCDHA6,intron_variant,,ENST00000527624,;	uc003lia.2	c.1240C>A	1240/5257	2	2			c.1240C>A						5	SNP	c.(1240-1242)CGC>AGC	46	46			breast(1)	1	Broad	protocadherin alpha 11 isoform 1 precursor			140249928		0.627	ENSG00000249158	11329	g.chr5:140249928C>A	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding							-13.157907	KEEP	12	7	0.368421053	105	147	12	7	0.368421053	34.617764	105	147	0.065574	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.R414S	175	GBM-19-5955-TP	p.R414S	C	CGCCCTGGACCGCGAGAACGT	NM_018902	NP_061725	140249928	Q9Y5I1	PCDAB_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2098	+	A	A			Missense_Mutation	414			Cadherin 4.|Extracellular (Potential).			
PCDHA11	0	broad.mit.edu	GRCh37	5	140250294	140250294	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01	TCGA-19-5955-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398640.2:c.1606G>A	p.Ala536Thr	p.A536T	ENST00000398640	NM_018902.3	536	Gcg/Acg	0			1			A	A/T	uc003lia.2	protein_coding	YES	CCDS47284.1			1606/2850									breast(1)	1	c.(1606-1608)GCG>ACG			Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF68,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin alpha 11 isoform 1 precursor				ENSP00000381636		4-Jan									COSM3409849,COSM3409848	4-Jan	.		ENST00000398640	Transcript			homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	ENSG00000249158	g.chr5:140250294G>A	8665			MODERATE		3.98	high	getma.org/?cm=msa&ty=f&p=PCDAB_HUMAN&rb=459&re=555&var=A536T	getma.org/pdb.php?prot=PCDAB_HUMAN&from=459&to=555&var=A536T	getma.org/?cm=var&var=hg19,5,140250294,G,A&fts=all	A536T	--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.A536T	1,1	1		probably_damaging(0.996)	p.A536T	NM_018902	NP_061725		deleterious_low_confidence(0)	1,1	PCDAB_HUMAN	PCDHA11	HGNC	Q9Y5I1	PCDAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	2464	+			UPI00001273D4	536			Extracellular (Potential).|Cadherin 5.		SNV	PCDHA11,missense_variant,p.Ala536Thr,ENST00000398640,NM_018902.3;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA10,intron_variant,,ENST00000307360,NM_018901.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA10,intron_variant,,ENST00000506939,NM_031860.1;PCDHA6,intron_variant,,ENST00000527624,;PCDHA12,upstream_gene_variant,,ENST00000398631,NM_018903.2,NM_031864.2;	uc003lia.2	c.1606G>A	1606/5257	2	2			c.1606G>A						5	SNP	c.(1606-1608)GCG>ACG	45	45			breast(1)	1	Broad	protocadherin alpha 11 isoform 1 precursor			140250294		0.672	ENSG00000249158	11329	g.chr5:140250294G>A	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding							-4.146851	KEEP	10	14	-1	133	137	10	14	-1	43.952632	133	137	0.081481	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.A536T	175	GBM-19-5955-TP	p.A536T	G	CCAGGTGAGCGCGCGCGATGC	NM_018902	NP_061725	140250294	Q9Y5I1	PCDAB_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2464	+	A	A			Missense_Mutation	536			Extracellular (Potential).|Cadherin 5.			
PCDHA11	56138		GRCh37	5	140249736	140249736	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000398640.2:c.1048G>A	p.Ala350Thr	p.A350T	ENST00000398640	NM_018902.3	350	Gcc/Acc	0																																																																																																																																																																																																																																												
PCDHA12	56137	broad.mit.edu	GRCh37	5	140257259	140257259	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-02-2485-01	TCGA-02-2485-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398631.2:c.2202G>A	p.Pro734=	p.P734=	ENST00000398631	NM_018903.2	734	ccG/ccA	0			1			A	P	uc003lic.2	protein_coding	YES	CCDS47285.1			2202/2826										0	c.(2200-2202)CCG>CCA			hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF76	protocadherin alpha 12 isoform 1 precursor				ENSP00000381628		4-Jan									COSM3409855	4-Jan	.		ENST00000398631	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	ENSG00000251664	g.chr5:140257259G>A	8666			LOW								--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.P734P	1	1			p.P734P	NM_018903	NP_061726			1	PCDAC_HUMAN	PCDHA12	HGNC	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	2329	+			UPI00001273D5	734			5 X 4 AA repeats of P-X-X-P.|Cytoplasmic (Potential).|PXXP 1.		SNV	PCDHA12,synonymous_variant,p.=,ENST00000398631,NM_018903.2,NM_031864.2;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA11,intron_variant,,ENST00000398640,NM_018902.3;PCDHA10,intron_variant,,ENST00000307360,NM_018901.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA10,intron_variant,,ENST00000506939,NM_031860.1;PCDHA6,intron_variant,,ENST00000527624,;PCDHA13,upstream_gene_variant,,ENST00000289272,NM_018904.2,NM_031865.1;PCDHA13,upstream_gene_variant,,ENST00000409494,NM_031865.1;	uc003lic.2	c.2202G>A	2202/5233	2	2			c.2202G>A						5	SNP	c.(2200-2202)CCG>CCA	29	29				0	Broad	protocadherin alpha 12 isoform 1 precursor			140257259		0.682	ENSG00000251664	11330	g.chr5:140257259G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	Pancreas(113;759 1672 13322 24104 50104)			Pancreas(113;759 1672 13322 24104 50104)			22.432977	KEEP	5	5	-1	15	18	5	5	-1	24.046677	15	18	0.258065	1	0	0	0	0	0	0	1	0	--	--		0	A			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.P734P	7	GBM-02-2485-TP	p.P734P	G	GGTGCGCGCCGGGCAAGCCCA	NM_018903	NP_061726	140257259	Q9UN75	PCDAC_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2329	+	A	A			Silent	734			5 X 4 AA repeats of P-X-X-P.|Cytoplasmic (Potential).|PXXP 1.			
PCDHA12	56137	broad.mit.edu	GRCh37	5	140256419	140256419	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0124-01	TCGA-06-0124-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398631.2:c.1362G>A	p.Ala454=	p.A454=	ENST00000398631	NM_018903.2	454	gcG/gcA	0			1			A	A	uc003lic.2	protein_coding	YES	CCDS47285.1			1362/2826										0	c.(1360-1362)GCG>GCA			Gene3D:2.60.40.60,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF76,Superfamily_domains:SSF49313	protocadherin alpha 12 isoform 1 precursor				ENSP00000381628		4-Jan									COSM3409852	4-Jan	.		ENST00000398631	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	ENSG00000251664	g.chr5:140256419G>A	8666			LOW								--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.A454A	1	1			p.A454A	NM_018903	NP_061726			1	PCDAC_HUMAN	PCDHA12	HGNC	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1489	+			UPI00001273D5	454			Cadherin 4.|Extracellular (Potential).		SNV	PCDHA12,synonymous_variant,p.=,ENST00000398631,NM_018903.2,NM_031864.2;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA11,intron_variant,,ENST00000398640,NM_018902.3;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA10,intron_variant,,ENST00000307360,NM_018901.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA10,intron_variant,,ENST00000506939,NM_031860.1;PCDHA6,intron_variant,,ENST00000527624,;	uc003lic.2	c.1362G>A	1362/5233	1	1			c.1362G>A						5	SNP	c.(1360-1362)GCG>GCA	61	61				0	Broad	protocadherin alpha 12 isoform 1 precursor			140256419		0.652	ENSG00000251664	11330	g.chr5:140256419G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	Pancreas(113;759 1672 13322 24104 50104)			Pancreas(113;759 1672 13322 24104 50104)			102.737211	KEEP	26	24	-1	97	48	26	24	-1	113.467786	97	48	0.245902	1	0	0	0	0	0	0	1	0	--	--		0	A			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.A454A	11	GBM-06-0124-TP	p.A454A	G	ATGCGCCTGCGTTCGCGCAGC	NM_018903	NP_061726	140256419	Q9UN75	PCDAC_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1489	+	A	A			Silent	454			Cadherin 4.|Extracellular (Potential).			
PCDHA12	56137	broad.mit.edu	GRCh37	5	140256671	140256671	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-1804-01	TCGA-06-1804-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398631.2:c.1614C>T	p.Arg538=	p.R538=	ENST00000398631	NM_018903.2	538	cgC/cgT	0			1			T	R	uc003lic.2	protein_coding	YES	CCDS47285.1			1614/2826										0	c.(1612-1614)CGC>CGT			Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF76,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin alpha 12 isoform 1 precursor				ENSP00000381628		4-Jan									COSM3409854	4-Jan	.		ENST00000398631	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	ENSG00000251664	g.chr5:140256671C>T	8666			LOW								--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.R538R	1	1			p.R538R	NM_018903	NP_061726			1	PCDAC_HUMAN	PCDHA12	HGNC	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1741	+			UPI00001273D5	538			Cadherin 5.|Extracellular (Potential).		SNV	PCDHA12,synonymous_variant,p.=,ENST00000398631,NM_018903.2,NM_031864.2;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA11,intron_variant,,ENST00000398640,NM_018902.3;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA10,intron_variant,,ENST00000307360,NM_018901.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA10,intron_variant,,ENST00000506939,NM_031860.1;PCDHA6,intron_variant,,ENST00000527624,;	uc003lic.2	c.1614C>T	1614/5233	2	2			c.1614C>T						5	SNP	c.(1612-1614)CGC>CGT	34	34				0	Broad	protocadherin alpha 12 isoform 1 precursor			140256671		0.692	ENSG00000251664	11330	g.chr5:140256671C>T	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	Pancreas(113;759 1672 13322 24104 50104)			Pancreas(113;759 1672 13322 24104 50104)			278.463682	KEEP	46	64	-1	82	88	46	64	-1	280.913367	82	88	0.396154	1	0	0	0	0	0	0	1	0	--	--		0	T			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.R538R	79	GBM-06-1804-TP	p.R538R	C	TGAGCGCGCGCGACGCCGGCG	NM_018903	NP_061726	140256671	Q9UN75	PCDAC_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1741	+	T	T			Silent	538			Cadherin 5.|Extracellular (Potential).			
PCDHA12	0	broad.mit.edu	GRCh37	5	140256668	140256668	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-3652-01	TCGA-12-3652-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398631.2:c.1611G>A	p.Ala537=	p.A537=	ENST00000398631	NM_018903.2	537	gcG/gcA	0			1			A	A	uc003lic.2	protein_coding	YES	CCDS47285.1			1611/2826										0	c.(1609-1611)GCG>GCA			Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF76,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin alpha 12 isoform 1 precursor				ENSP00000381628		4-Jan									COSM3409853	4-Jan	.		ENST00000398631	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	ENSG00000251664	g.chr5:140256668G>A	8666			LOW								--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.A537A	1	1			p.A537A	NM_018903	NP_061726			1	PCDAC_HUMAN	PCDHA12	HGNC	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1738	+			UPI00001273D5	537			Cadherin 5.|Extracellular (Potential).		SNV	PCDHA12,synonymous_variant,p.=,ENST00000398631,NM_018903.2,NM_031864.2;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA11,intron_variant,,ENST00000398640,NM_018902.3;PCDHA10,intron_variant,,ENST00000307360,NM_018901.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA10,intron_variant,,ENST00000506939,NM_031860.1;PCDHA6,intron_variant,,ENST00000527624,;	uc003lic.2	c.1611G>A	1611/5233	2	2			c.1611G>A						5	SNP	c.(1609-1611)GCG>GCA	17	17				0	Broad	protocadherin alpha 12 isoform 1 precursor			140256668		0.687	ENSG00000251664	11330	g.chr5:140256668G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	Pancreas(113;759 1672 13322 24104 50104)			Pancreas(113;759 1672 13322 24104 50104)			152.046976	KEEP	31	32	-1	48	56	31	32	-1	153.518985	48	56	0.390071	1	0	0	0	0	0	0	1	0	--	--		0	A			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.A537A	127	GBM-12-3652-TP	p.A537A	G	AGGTGAGCGCGCGCGACGCCG	NM_018903	NP_061726	140256668	Q9UN75	PCDAC_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1738	+	A	A			Silent	537			Cadherin 5.|Extracellular (Potential).			
PCDHA12	0	broad.mit.edu	GRCh37	5	140255258	140255258	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398631.2:c.201G>A	p.Ala67=	p.A67=	ENST00000398631	NM_018903.2	67	gcG/gcA	0			1			A	A	uc003lic.2	protein_coding	YES	CCDS47285.1			201/2826										0	c.(199-201)GCG>GCA			Gene3D:2.60.40.60,Pfam_domain:PF08266,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF76,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin alpha 12 isoform 1 precursor				ENSP00000381628		4-Jan									COSM1261243	4-Jan	.		ENST00000398631	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	ENSG00000251664	g.chr5:140255258G>A	8666			LOW								--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.A67A	1	1			p.A67A	NM_018903	NP_061726			1	PCDAC_HUMAN	PCDHA12	HGNC	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	328	+			UPI00001273D5	67			Cadherin 1.|Extracellular (Potential).		SNV	PCDHA12,synonymous_variant,p.=,ENST00000398631,NM_018903.2,NM_031864.2;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA11,intron_variant,,ENST00000398640,NM_018902.3;PCDHA10,intron_variant,,ENST00000307360,NM_018901.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA10,intron_variant,,ENST00000506939,NM_031860.1;PCDHA6,intron_variant,,ENST00000527624,;	uc003lic.2	c.201G>A	201/5233	1	1			c.201G>A						5	SNP	c.(199-201)GCG>GCA	62	62				0	Broad	protocadherin alpha 12 isoform 1 precursor			140255258		0.632	ENSG00000251664	11330	g.chr5:140255258G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	Pancreas(113;759 1672 13322 24104 50104)			Pancreas(113;759 1672 13322 24104 50104)			211.644978	KEEP	51	43	-1	78	101	51	43	-1	213.898965	78	101	0.385787	1	0	0	0	0	0	0	1	0	--	--		0	A			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.A67A	197	GBM-27-1838-TP	p.A67A	G	TCCGGGTGGCGTCCAAAAGAC	NM_018903	NP_061726	140255258	Q9UN75	PCDAC_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	328	+	A	A			Silent	67			Cadherin 1.|Extracellular (Potential).			
PCDHA13	56136	broad.mit.edu	GRCh37	5	140263677	140263677	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0141-01	TCGA-06-0141-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000289272.2:c.1824G>A	p.Ser608=	p.S608=	ENST00000289272	NM_018904.2	608	tcG/tcA	0			1			A	S	uc003lif.2	protein_coding	YES	CCDS4240.1			1824/2853									ovary(3)|skin(2)|central_nervous_system(1)	6	c.(1822-1824)TCG>TCA			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF101,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin alpha 13 isoform 1 precursor				ENSP00000289272		4-Jan									COSM3409858	4-Jan	.		ENST00000289272	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000239389	g.chr5:140263677G>A	8667			LOW								--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.S608S|PCDHA13_uc003lid.2_Silent_p.S608S	1	1			p.S608S	NM_018904	NP_061727			1	PCDAD_HUMAN	PCDHA13	HGNC	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1824	+			UPI00001273D6	608			Cadherin 6.|Extracellular (Potential).		SNV	PCDHA13,synonymous_variant,p.=,ENST00000289272,NM_018904.2,NM_031865.1;PCDHA13,synonymous_variant,p.=,ENST00000409494,NM_031865.1;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA11,intron_variant,,ENST00000398640,NM_018902.3;PCDHA10,intron_variant,,ENST00000307360,NM_018901.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA12,intron_variant,,ENST00000398631,NM_018903.2,NM_031864.2;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA10,intron_variant,,ENST00000506939,NM_031860.1;PCDHA6,intron_variant,,ENST00000527624,;	uc003lif.2	c.1824G>A	1824/5260	1	1			c.1824G>A						5	SNP	c.(1822-1824)TCG>TCA	59	59			ovary(3)|skin(2)|central_nervous_system(1)	6	Broad	protocadherin alpha 13 isoform 1 precursor			140263677		0.682	ENSG00000239389	11331	g.chr5:140263677G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	Melanoma(147;1739 1852 5500 27947 37288)			Melanoma(147;1739 1852 5500 27947 37288)			8.203579	KEEP	8	6	-1	83	83	8	6	-1	29.470131	83	83	0.098485	1	0	0	0	0	0	0	1	0	--	--		0	A			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.S608S|PCDHA13_uc003lid.2_Silent_p.S608S	21	GBM-06-0141-TP	p.S608S	G	CGTGGCTTTCGTATGAATTGC	NM_018904	NP_061727	140263677	Q9Y5I0	PCDAD_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1824	+	A	A			Silent	608			Cadherin 6.|Extracellular (Potential).			
PCDHA13	56136	broad.mit.edu	GRCh37	5	140263908	140263908	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0154-01	TCGA-06-0154-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000289272.2:c.2055C>T	p.Gly685=	p.G685=	ENST00000289272	NM_018904.2	685	ggC/ggT	0			1			T	G	uc003lif.2	protein_coding	YES	CCDS4240.1			2055/2853									ovary(3)|skin(2)|central_nervous_system(1)	6	c.(2053-2055)GGC>GGT			hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF101	protocadherin alpha 13 isoform 1 precursor				ENSP00000289272		4-Jan									COSM448831	4-Jan	.		ENST00000289272	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000239389	g.chr5:140263908C>T	8667			LOW								--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.G685G|PCDHA13_uc003lid.2_Silent_p.G685G	1	1			p.G685G	NM_018904	NP_061727			1	PCDAD_HUMAN	PCDHA13	HGNC	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	2055	+			UPI00001273D6	685			Extracellular (Potential).		SNV	PCDHA13,synonymous_variant,p.=,ENST00000289272,NM_018904.2,NM_031865.1;PCDHA13,synonymous_variant,p.=,ENST00000409494,NM_031865.1;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA11,intron_variant,,ENST00000398640,NM_018902.3;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA10,intron_variant,,ENST00000307360,NM_018901.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA12,intron_variant,,ENST00000398631,NM_018903.2,NM_031864.2;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA10,intron_variant,,ENST00000506939,NM_031860.1;PCDHA6,intron_variant,,ENST00000527624,;	uc003lif.2	c.2055C>T	2055/5260	1	1			c.2055C>T						5	SNP	c.(2053-2055)GGC>GGT	7	7			ovary(3)|skin(2)|central_nervous_system(1)	6	Broad	protocadherin alpha 13 isoform 1 precursor			140263908		0.632	ENSG00000239389	11331	g.chr5:140263908C>T	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	Melanoma(147;1739 1852 5500 27947 37288)			Melanoma(147;1739 1852 5500 27947 37288)			79.798794	KEEP	16	19	-1	36	49	16	19	-1	81.050077	36	49	0.363636	1	0	0	0	0	0	0	1	0	--	--		0	T			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.G685G|PCDHA13_uc003lid.2_Silent_p.G685G	26	GBM-06-0154-TP	p.G685G	C	CGTCGGCAGGCGCTGTGGGTC	NM_018904	NP_061727	140263908	Q9Y5I0	PCDAD_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2055	+	T	T			Silent	685			Extracellular (Potential).			
PCDHA13	56136	broad.mit.edu	GRCh37	5	140263877	140263877	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0686-01	TCGA-06-0686-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000289272.2:c.2024C>T	p.Ala675Val	p.A675V	ENST00000289272	NM_018904.2	675	gCg/gTg	0			1			T	A/V	uc003lif.2	protein_coding	YES	CCDS4240.1			2024/2853								p.A675V(1)	ovary(3)|skin(2)|central_nervous_system(1)	6	c.(2023-2025)GCG>GTG			PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF101,SMART_domains:SM00112	protocadherin alpha 13 isoform 1 precursor				ENSP00000289272		4-Jan									COSM72090	4-Jan	.		ENST00000289272	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000239389	g.chr5:140263877C>T	8667			MODERATE		2.18	medium	getma.org/?cm=msa&ty=f&p=PCDAD_HUMAN&rb=581&re=678&var=A675V	NA	getma.org/?cm=var&var=hg19,5,140263877,C,T&fts=all	A675V	--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.A675V|PCDHA13_uc003lid.2_Missense_Mutation_p.A675V	1	1		benign(0.002)	p.A675V	NM_018904	NP_061727		tolerated_low_confidence(0.12)	1	PCDAD_HUMAN	PCDHA13	HGNC	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	2024	+			UPI00001273D6	675			Cadherin 6.|Extracellular (Potential).		SNV	PCDHA13,missense_variant,p.Ala675Val,ENST00000289272,NM_018904.2,NM_031865.1;PCDHA13,missense_variant,p.Ala675Val,ENST00000409494,NM_031865.1;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA11,intron_variant,,ENST00000398640,NM_018902.3;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA10,intron_variant,,ENST00000307360,NM_018901.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA12,intron_variant,,ENST00000398631,NM_018903.2,NM_031864.2;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA10,intron_variant,,ENST00000506939,NM_031860.1;PCDHA6,intron_variant,,ENST00000527624,;	uc003lif.2	c.2024C>T	2024/5260	2	2			c.2024C>T						5	SNP	c.(2023-2025)GCG>GTG	46	46		p.A675V(1)	ovary(3)|skin(2)|central_nervous_system(1)	6	Broad	protocadherin alpha 13 isoform 1 precursor			140263877		0.662	ENSG00000239389	11331	g.chr5:140263877C>T	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	Melanoma(147;1739 1852 5500 27947 37288)			Melanoma(147;1739 1852 5500 27947 37288)			-15.577394	KEEP	3	3	-1	86	57	3	3	-1	8.068543	86	57	0.038835	1	0	0	0	0	1	0	0	0	--	--		0	T			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.A675V|PCDHA13_uc003lid.2_Missense_Mutation_p.A675V	64	GBM-06-0686-TP	p.A675V	C	AGCGGCCAAGCGCCACAGGCT	NM_018904	NP_061727	140263877	Q9Y5I0	PCDAD_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2024	+	T	T			Missense_Mutation	675			Cadherin 6.|Extracellular (Potential).			
PCDHA13	0	broad.mit.edu	GRCh37	5	140263908	140263908	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-26-6174-01	TCGA-26-6174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000289272.2:c.2055C>T	p.Gly685=	p.G685=	ENST00000289272	NM_018904.2	685	ggC/ggT	0			1			T	G	uc003lif.2	protein_coding	YES	CCDS4240.1			2055/2853									ovary(3)|skin(2)|central_nervous_system(1)	6	c.(2053-2055)GGC>GGT			hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF101	protocadherin alpha 13 isoform 1 precursor				ENSP00000289272		4-Jan									COSM448831	4-Jan	.		ENST00000289272	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000239389	g.chr5:140263908C>T	8667			LOW								--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.G685G|PCDHA13_uc003lid.2_Silent_p.G685G	1	1			p.G685G	NM_018904	NP_061727			1	PCDAD_HUMAN	PCDHA13	HGNC	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	2055	+			UPI00001273D6	685			Extracellular (Potential).		SNV	PCDHA13,synonymous_variant,p.=,ENST00000289272,NM_018904.2,NM_031865.1;PCDHA13,synonymous_variant,p.=,ENST00000409494,NM_031865.1;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA11,intron_variant,,ENST00000398640,NM_018902.3;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA10,intron_variant,,ENST00000307360,NM_018901.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA12,intron_variant,,ENST00000398631,NM_018903.2,NM_031864.2;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA10,intron_variant,,ENST00000506939,NM_031860.1;PCDHA6,intron_variant,,ENST00000527624,;	uc003lif.2	c.2055C>T	2055/5260	1	1			c.2055C>T						5	SNP	c.(2053-2055)GGC>GGT	7	7			ovary(3)|skin(2)|central_nervous_system(1)	6	Broad	protocadherin alpha 13 isoform 1 precursor			140263908		0.632	ENSG00000239389	11331	g.chr5:140263908C>T	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	Melanoma(147;1739 1852 5500 27947 37288)			Melanoma(147;1739 1852 5500 27947 37288)			36.437431	KEEP	9	8	-1	30	25	9	8	-1	40.662324	30	25	0.242857	1	0	0	0	0	0	0	1	0	--	--		0	T			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.G685G|PCDHA13_uc003lid.2_Silent_p.G685G	188	GBM-26-6174-TP	p.G685G	C	CGTCGGCAGGCGCTGTGGGTC	NM_018904	NP_061727	140263908	Q9Y5I0	PCDAD_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2055	+	T	T			Silent	685			Extracellular (Potential).			
PCDHA13	0	broad.mit.edu	GRCh37	5	140263516	140263516	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000289272.2:c.1663G>A	p.Val555Met	p.V555M	ENST00000289272	NM_018904.2	555	Gtg/Atg	0			1			A	V/M	uc003lif.2	protein_coding	YES	CCDS4240.1			1663/2853									ovary(3)|skin(2)|central_nervous_system(1)	6	c.(1663-1665)GTG>ATG			Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF101,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin alpha 13 isoform 1 precursor				ENSP00000289272		4-Jan									COSM3409857	4-Jan	.		ENST00000289272	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000239389	g.chr5:140263516G>A	8667			MODERATE		3.135	medium	getma.org/?cm=msa&ty=f&p=PCDAD_HUMAN&rb=460&re=556&var=V555M	NA	getma.org/?cm=var&var=hg19,5,140263516,G,A&fts=all	V555M	--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.V555M|PCDHA13_uc003lid.2_Missense_Mutation_p.V555M	1	1		probably_damaging(0.997)	p.V555M	NM_018904	NP_061727		deleterious_low_confidence(0)	1	PCDAD_HUMAN	PCDHA13	HGNC	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1663	+			UPI00001273D6	555			Cadherin 5.|Extracellular (Potential).		SNV	PCDHA13,missense_variant,p.Val555Met,ENST00000289272,NM_018904.2,NM_031865.1;PCDHA13,missense_variant,p.Val555Met,ENST00000409494,NM_031865.1;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA11,intron_variant,,ENST00000398640,NM_018902.3;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA10,intron_variant,,ENST00000307360,NM_018901.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA12,intron_variant,,ENST00000398631,NM_018903.2,NM_031864.2;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA10,intron_variant,,ENST00000506939,NM_031860.1;PCDHA6,intron_variant,,ENST00000527624,;	uc003lif.2	c.1663G>A	1663/5260	2	2			c.1663G>A						5	SNP	c.(1663-1665)GTG>ATG	30	30			ovary(3)|skin(2)|central_nervous_system(1)	6	Broad	protocadherin alpha 13 isoform 1 precursor			140263516		0.697	ENSG00000239389	11331	g.chr5:140263516G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	Melanoma(147;1739 1852 5500 27947 37288)			Melanoma(147;1739 1852 5500 27947 37288)			187.768379	KEEP	47	34	-1	72	95	47	34	-1	193.318709	72	95	0.328638	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.V555M|PCDHA13_uc003lid.2_Missense_Mutation_p.V555M	249	GBM-32-5222-TP	p.V555M	G	GCAGGTGTTCGTGCTGGACGA	NM_018904	NP_061727	140263516	Q9Y5I0	PCDAD_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1663	+	A	A			Missense_Mutation	555			Cadherin 5.|Extracellular (Potential).			
PCDHA13	0	broad.mit.edu	GRCh37	5	140263838	140263838	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01	TCGA-41-3392-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000289272.2:c.1985C>T	p.Thr662Met	p.T662M	ENST00000289272	NM_018904.2	662	aCg/aTg	0			1			T	T/M	uc003lif.2	protein_coding	YES	CCDS4240.1			1985/2853									ovary(3)|skin(2)|central_nervous_system(1)	6	c.(1984-1986)ACG>ATG			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF101,Low_complexity_(Seg):seg,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin alpha 13 isoform 1 precursor				ENSP00000289272		4-Jan									COSM308104	4-Jan	.		ENST00000289272	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000239389	g.chr5:140263838C>T	8667			MODERATE		3.55	high	getma.org/?cm=msa&ty=f&p=PCDAD_HUMAN&rb=579&re=670&var=T662M	getma.org/pdb.php?prot=PCDAD_HUMAN&from=579&to=670&var=T662M	getma.org/?cm=var&var=hg19,5,140263838,C,T&fts=all	T662M	--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.T662M|PCDHA13_uc003lid.2_Missense_Mutation_p.T662M	1	1		probably_damaging(0.946)	p.T662M	NM_018904	NP_061727		deleterious_low_confidence(0.03)	1	PCDAD_HUMAN	PCDHA13	HGNC	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1985	+			UPI00001273D6	662			Cadherin 6.|Extracellular (Potential).		SNV	PCDHA13,missense_variant,p.Thr662Met,ENST00000289272,NM_018904.2,NM_031865.1;PCDHA13,missense_variant,p.Thr662Met,ENST00000409494,NM_031865.1;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA11,intron_variant,,ENST00000398640,NM_018902.3;PCDHA10,intron_variant,,ENST00000307360,NM_018901.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA12,intron_variant,,ENST00000398631,NM_018903.2,NM_031864.2;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA10,intron_variant,,ENST00000506939,NM_031860.1;PCDHA6,intron_variant,,ENST00000527624,;	uc003lif.2	c.1985C>T	1985/5260	2	2			c.1985C>T						5	SNP	c.(1984-1986)ACG>ATG	17	17			ovary(3)|skin(2)|central_nervous_system(1)	6	Broad	protocadherin alpha 13 isoform 1 precursor			140263838		0.701	ENSG00000239389	11331	g.chr5:140263838C>T	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	Melanoma(147;1739 1852 5500 27947 37288)			Melanoma(147;1739 1852 5500 27947 37288)			2.800598	KEEP	7	5	-1	40	66	7	5	-1	19.253715	40	66	0.091837	1	0	0	0	0	1	0	0	0	--	--		0	T			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.T662M|PCDHA13_uc003lid.2_Missense_Mutation_p.T662M	254	GBM-41-3392-TP	p.T662M	C	CTGACGGCCACGGCAACGGTG	NM_018904	NP_061727	140263838	Q9Y5I0	PCDAD_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1985	+	T	T			Missense_Mutation	662			Cadherin 6.|Extracellular (Potential).			
PCDHA13	0	broad.mit.edu	GRCh37	5	140263481	140263481	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01	TCGA-76-6192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000289272.2:c.1628C>T	p.Pro543Leu	p.P543L	ENST00000289272	NM_018904.2	543	cCg/cTg	0			1			T	P/L	uc003lif.2	protein_coding	YES	CCDS4240.1			1628/2853									ovary(3)|skin(2)|central_nervous_system(1)	6	c.(1627-1629)CCG>CTG			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF101,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin alpha 13 isoform 1 precursor				ENSP00000289272		4-Jan									COSM3409856	4-Jan	.		ENST00000289272	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000239389	g.chr5:140263481C>T	8667			MODERATE		2.945	medium	getma.org/?cm=msa&ty=f&p=PCDAD_HUMAN&rb=460&re=556&var=P543L	getma.org/pdb.php?prot=PCDAD_HUMAN&from=460&to=556&var=P543L	getma.org/?cm=var&var=hg19,5,140263481,C,T&fts=all	P543L	--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.P543L|PCDHA13_uc003lid.2_Missense_Mutation_p.P543L	1	1		possibly_damaging(0.85)	p.P543L	NM_018904	NP_061727		deleterious_low_confidence(0.01)	1	PCDAD_HUMAN	PCDHA13	HGNC	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1628	+			UPI00001273D6	543			Cadherin 5.|Extracellular (Potential).		SNV	PCDHA13,missense_variant,p.Pro543Leu,ENST00000289272,NM_018904.2,NM_031865.1;PCDHA13,missense_variant,p.Pro543Leu,ENST00000409494,NM_031865.1;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA11,intron_variant,,ENST00000398640,NM_018902.3;PCDHA10,intron_variant,,ENST00000307360,NM_018901.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA12,intron_variant,,ENST00000398631,NM_018903.2,NM_031864.2;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA10,intron_variant,,ENST00000506939,NM_031860.1;PCDHA6,intron_variant,,ENST00000527624,;	uc003lif.2	c.1628C>T	1628/5260	2	2			c.1628C>T						5	SNP	c.(1627-1629)CCG>CTG	17	17			ovary(3)|skin(2)|central_nervous_system(1)	6	Broad	protocadherin alpha 13 isoform 1 precursor			140263481		0.692	ENSG00000239389	11331	g.chr5:140263481C>T	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	Melanoma(147;1739 1852 5500 27947 37288)			Melanoma(147;1739 1852 5500 27947 37288)			52.879759	KEEP	12	14	-1	43	55	12	14	-1	61.289593	43	55	0.211009	1	0	0	0	0	1	0	0	0	--	--		0	T			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.P543L|PCDHA13_uc003lid.2_Missense_Mutation_p.P543L	275	GBM-76-6192-TP	p.P543L	C	TCTGGCGTGCCGCCTCTGGGC	NM_018904	NP_061727	140263481	Q9Y5I0	PCDAD_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1628	+	T	T			Missense_Mutation	543			Cadherin 5.|Extracellular (Potential).			
PCDHA2	56146	broad.mit.edu	GRCh37	5	140176802	140176802	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000526136.1:c.2253G>A	p.Ser751=	p.S751=	ENST00000526136	NM_018905.2	751	tcG/tcA	0			1			A	S	uc003lhd.2	protein_coding	YES	CCDS54914.1			2253/2847									ovary(4)	4	c.(2251-2253)TCG>TCA			hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF60	protocadherin alpha 2 isoform 1 precursor				ENSP00000431748		4-Jan	8.24E-06							6.06E-05	rs782152702,COSM3409801,COSM3409800	4-Jan	.		ENST00000526136	Transcript			homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	ENSG00000204969	g.chr5:140176802G>A	8668			LOW								--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.S751S|PCDHA2_uc011czy.1_Silent_p.S751S	0,1,1	1			p.S751S	NM_018905	NP_061728			0,1,1	PCDA2_HUMAN	PCDHA2	HGNC	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	2359	+			UPI00001273C9	751			Cytoplasmic (Potential).|5 X 4 AA repeats of P-X-X-P.		SNV	PCDHA2,synonymous_variant,p.=,ENST00000526136,NM_018905.2;PCDHA2,synonymous_variant,p.=,ENST00000520672,NM_031496.1;PCDHA2,synonymous_variant,p.=,ENST00000378132,NM_031495.1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA3,upstream_gene_variant,,ENST00000522353,NM_018906.2;PCDHA3,upstream_gene_variant,,ENST00000532566,NM_031497.1;	uc003lhd.2	c.2253G>A	2253/5254	2	2			c.2253G>A						5	SNP	c.(2251-2253)TCG>TCA	28	28			ovary(4)	4	Broad	protocadherin alpha 2 isoform 1 precursor			140176802		0.672	ENSG00000204969	11332	g.chr5:140176802G>A	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding							130.713676	KEEP	21	32	-1	27	39	21	32	-1	130.940386	27	39	0.447917	1	0	0	0	0	0	0	1	0	--	--		0	A			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.S751S|PCDHA2_uc011czy.1_Silent_p.S751S	46	GBM-06-0209-TP	p.S751S	G	GGTCTTACTCGCAGCAGAGGC	NM_018905	NP_061728	140176802	Q9Y5H9	PCDA2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2359	+	A	A			Silent	751			Cytoplasmic (Potential).|5 X 4 AA repeats of P-X-X-P.			
PCDHA2	56146	broad.mit.edu	GRCh37	5	140175903	140175903	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01	TCGA-06-0876-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000526136.1:c.1354G>A	p.Ala452Thr	p.A452T	ENST00000526136	NM_018905.2	452	Gcg/Acg	0			1			A	A/T	uc003lhd.2	protein_coding	YES	CCDS54914.1			1354/2847									ovary(4)	4	c.(1354-1356)GCG>ACG			Gene3D:2.60.40.60,Prints_domain:PR00205,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF60,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin alpha 2 isoform 1 precursor				ENSP00000431748		4-Jan	8.24E-06					1.50E-05			rs782095286,COSM3409799,COSM3409798	4-Jan	.		ENST00000526136	Transcript			homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	ENSG00000204969	g.chr5:140175903G>A	8668			MODERATE		2.445	medium	getma.org/?cm=msa&ty=f&p=PCDA2_HUMAN&rb=351&re=455&var=A452T	getma.org/pdb.php?prot=PCDA2_HUMAN&from=351&to=455&var=A452T	getma.org/?cm=var&var=hg19,5,140175903,G,A&fts=all	A452T	--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.A452T|PCDHA2_uc011czy.1_Missense_Mutation_p.A452T	0,1,1	1		benign(0.334)	p.A452T	NM_018905	NP_061728		deleterious_low_confidence(0.02)	0,1,1	PCDA2_HUMAN	PCDHA2	HGNC	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1460	+			UPI00001273C9	452			Cadherin 4.|Extracellular (Potential).		SNV	PCDHA2,missense_variant,p.Ala452Thr,ENST00000526136,NM_018905.2;PCDHA2,missense_variant,p.Ala452Thr,ENST00000520672,NM_031496.1;PCDHA2,missense_variant,p.Ala452Thr,ENST00000378132,NM_031495.1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA3,upstream_gene_variant,,ENST00000522353,NM_018906.2;PCDHA3,upstream_gene_variant,,ENST00000532566,NM_031497.1;	uc003lhd.2	c.1354G>A	1354/5254	1	1			c.1354G>A						5	SNP	c.(1354-1356)GCG>ACG	51	51			ovary(4)	4	Broad	protocadherin alpha 2 isoform 1 precursor			140175903		0.647	ENSG00000204969	11332	g.chr5:140175903G>A	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding							199.984865	KEEP	46	44	-1	89	68	46	44	-1	202.841219	89	68	0.369792	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.A452T|PCDHA2_uc011czy.1_Missense_Mutation_p.A452T	72	GBM-06-0876-TP	p.A452T	G	GAACGACAACGCGCCGGCGTT	NM_018905	NP_061728	140175903	Q9Y5H9	PCDA2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1460	+	A	A			Missense_Mutation	452			Cadherin 4.|Extracellular (Potential).			
PCDHA2	0	broad.mit.edu	GRCh37	5	140174750	140174750	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0789-01	TCGA-14-0789-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000526136.1:c.201G>A	p.Ala67=	p.A67=	ENST00000526136	NM_018905.2	67	gcG/gcA	0			1			A	A	uc003lhd.2	protein_coding	YES	CCDS54914.1			201/2847									ovary(4)	4	c.(199-201)GCG>GCA			Gene3D:2.60.40.60,Pfam_domain:PF08266,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF60,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin alpha 2 isoform 1 precursor				ENSP00000431748		4-Jan	1.65E-05			0.000232					rs782585524,COSM1486352,COSM1486351	4-Jan	.		ENST00000526136	Transcript			homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	ENSG00000204969	g.chr5:140174750G>A	8668			LOW								--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.A67A|PCDHA2_uc011czy.1_Silent_p.A67A	0,1,1	1			p.A67A	NM_018905	NP_061728			0,1,1	PCDA2_HUMAN	PCDHA2	HGNC	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	307	+			UPI00001273C9	67			Extracellular (Potential).|Cadherin 1.		SNV	PCDHA2,synonymous_variant,p.=,ENST00000526136,NM_018905.2;PCDHA2,synonymous_variant,p.=,ENST00000520672,NM_031496.1;PCDHA2,synonymous_variant,p.=,ENST00000378132,NM_031495.1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;	uc003lhd.2	c.201G>A	201/5254	1	1			c.201G>A						5	SNP	c.(199-201)GCG>GCA	52	52			ovary(4)	4	Broad	protocadherin alpha 2 isoform 1 precursor			140174750		0.647	ENSG00000204969	11332	g.chr5:140174750G>A	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding							195.333965	KEEP	40	50	-1	134	122	40	50	-1	209.339326	134	122	0.271812	1	0	0	0	0	0	0	1	0	--	--		0	A			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.A67A|PCDHA2_uc011czy.1_Silent_p.A67A	136	GBM-14-0789-TP	p.A67A	G	TCCGGGTGGCGTCCAAAAGAC	NM_018905	NP_061728	140174750	Q9Y5H9	PCDA2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	307	+	A	A			Silent	67			Extracellular (Potential).|Cadherin 1.			
PCDHA2	0	broad.mit.edu	GRCh37	5	140176747	140176747	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01	TCGA-32-1970-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000526136.1:c.2198C>T	p.Ala733Val	p.A733V	ENST00000526136	NM_018905.2	733	gCg/gTg	0			1			T	A/V	uc003lhd.2	protein_coding	YES	CCDS54914.1			2198/2847									ovary(4)	4	c.(2197-2199)GCG>GTG			hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF60	protocadherin alpha 2 isoform 1 precursor				ENSP00000431748		4-Jan									COSM3239570,COSM3239569	4-Jan	.		ENST00000526136	Transcript			homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	ENSG00000204969	g.chr5:140176747C>T	8668			MODERATE		1.055	low	getma.org/?cm=msa&ty=f&p=PCDA2_HUMAN&rb=671&re=795&var=A733V	NA	getma.org/?cm=var&var=hg19,5,140176747,C,T&fts=all	A733V	--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.A733V|PCDHA2_uc011czy.1_Missense_Mutation_p.A733V	1,1	1		benign(0.004)	p.A733V	NM_018905	NP_061728		tolerated_low_confidence(0.06)	1,1	PCDA2_HUMAN	PCDHA2	HGNC	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	2304	+			UPI00001273C9	733			Cytoplasmic (Potential).		SNV	PCDHA2,missense_variant,p.Ala733Val,ENST00000526136,NM_018905.2;PCDHA2,missense_variant,p.Ala733Val,ENST00000520672,NM_031496.1;PCDHA2,missense_variant,p.Ala733Val,ENST00000378132,NM_031495.1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA3,upstream_gene_variant,,ENST00000522353,NM_018906.2;PCDHA3,upstream_gene_variant,,ENST00000532566,NM_031497.1;	uc003lhd.2	c.2198C>T	2198/5254	1	1			c.2198C>T						5	SNP	c.(2197-2199)GCG>GTG	4	4			ovary(4)	4	Broad	protocadherin alpha 2 isoform 1 precursor			140176747		0.682	ENSG00000204969	11332	g.chr5:140176747C>T	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding							114.410718	KEEP	17	24	-1	35	24	17	24	-1	114.937961	35	24	0.419355	1	0	0	0	0	1	0	0	0	--	--		0	T			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.A733V|PCDHA2_uc011czy.1_Missense_Mutation_p.A733V	228	GBM-32-1970-TP	p.A733V	C	GGTGCGCGCGCGCCAGGAAAG	NM_018905	NP_061728	140176747	Q9Y5H9	PCDA2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2304	+	T	T			Missense_Mutation	733			Cytoplasmic (Potential).			
PCDHA3	56145	broad.mit.edu	GRCh37	5	140182149	140182149	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0168-01	TCGA-06-0168-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000522353.2:c.1367C>T	p.Ser456Leu	p.S456L	ENST00000522353	NM_018906.2	456	tCg/tTg	0			1			T	S/L	uc003lhf.2	protein_coding	YES	CCDS54915.1			1367/2853									ovary(6)|skin(2)	8	c.(1366-1368)TCG>TTG			Gene3D:2.60.40.60,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF93,Superfamily_domains:SSF49313	protocadherin alpha 3 isoform 1 precursor				ENSP00000429808		4-Jan									COSM233055,COSM233056	4-Jan	.		ENST00000522353	Transcript			homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	ENSG00000255408	g.chr5:140182149C>T	8669			MODERATE		1.015	low	getma.org/?cm=msa&ty=f&p=PCDA3_HUMAN&rb=456&re=565&var=S456L	NA	getma.org/?cm=var&var=hg19,5,140182149,C,T&fts=all	S456L	--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.S456L	1,1	1		benign(0.008)	p.S456L	NM_018906	NP_061729		deleterious_low_confidence(0)	1,1	PCDA3_HUMAN	PCDHA3	HGNC	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1367	+			UPI00001273CB	456			Cadherin 5.|Extracellular (Potential).		SNV	PCDHA3,missense_variant,p.Ser456Leu,ENST00000522353,NM_018906.2;PCDHA3,missense_variant,p.Ser456Leu,ENST00000532566,NM_031497.1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA2,intron_variant,,ENST00000520672,NM_031496.1;PCDHA4,upstream_gene_variant,,ENST00000530339,NM_018907.2;PCDHA4,upstream_gene_variant,,ENST00000512229,;PCDHA4,upstream_gene_variant,,ENST00000356878,NM_031500.1;	uc003lhf.2	c.1367C>T	1367/5260	1	1			c.1367C>T						5	SNP	c.(1366-1368)TCG>TTG	9	9			ovary(6)|skin(2)	8	Broad	protocadherin alpha 3 isoform 1 precursor			140182149		0.672	ENSG00000255408	11333	g.chr5:140182149C>T	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding							182.275351	KEEP	35	38	-1	70	57	35	38	-1	185.24947	70	57	0.361582	1	0	0	0	0	1	0	0	0	--	--		0	T			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.S456L	33	GBM-06-0168-TP	p.S456L	C	CCGGCATTCTCGCAGTCCGAG	NM_018906	NP_061729	140182149	Q9Y5H8	PCDA3_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1367	+	T	T			Missense_Mutation	456			Cadherin 5.|Extracellular (Potential).			
PCDHA3	56145	broad.mit.edu	GRCh37	5	140180853	140180853	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs147990915		TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000522353.2:c.71C>T	p.Ser24Leu	p.S24L	ENST00000522353	NM_018906.2	24	tCg/tTg	0			1			T	S/L	uc003lhf.2	protein_coding	YES	CCDS54915.1			71/2853									ovary(6)|skin(2)	8	c.(70-72)TCG>TTG			hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF93,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	protocadherin alpha 3 isoform 1 precursor				ENSP00000429808		4-Jan									COSM3409803,COSM3409802	4-Jan	.		ENST00000522353	Transcript			homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	ENSG00000255408	g.chr5:140180853C>T	8669			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=PCDA3_HUMAN&rb=1&re=58&var=S24L	NA	getma.org/?cm=var&var=hg19,5,140180853,C,T&fts=all	S24L	--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.S24L	1,1	1		benign(0.001)	p.S24L	NM_018906	NP_061729		deleterious_low_confidence(0.01)	1,1	PCDA3_HUMAN	PCDHA3	HGNC	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	71	+			UPI00001273CB	24					SNV	PCDHA3,missense_variant,p.Ser24Leu,ENST00000522353,NM_018906.2;PCDHA3,missense_variant,p.Ser24Leu,ENST00000532566,NM_031497.1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA2,intron_variant,,ENST00000520672,NM_031496.1;PCDHA2,downstream_gene_variant,,ENST00000378132,NM_031495.1;	uc003lhf.2	c.71C>T	71/5260	1	1			c.71C>T						5	SNP	c.(70-72)TCG>TTG	4	4			ovary(6)|skin(2)	8	Broad	protocadherin alpha 3 isoform 1 precursor			140180853		0.597	ENSG00000255408	11333	g.chr5:140180853C>T	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding							337.583304	KEEP	58	49	-1	14	19	58	49	-1	347.006648	14	19	0.78125	1	0	0	0	0	1	0	0	0	--	--		0	T			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.S24L	102	GBM-06-5858-TP	p.S24L	C	CTCGCAGCCTCGGAGGTGGGG	NM_018906	NP_061729	140180853	Q9Y5H8	PCDA3_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	71	+	T	T			Missense_Mutation	24						
PCDHA3	0	broad.mit.edu	GRCh37	5	140181903	140181903	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-6391-01	TCGA-06-6391-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000522353.2:c.1121T>C	p.Val374Ala	p.V374A	ENST00000522353	NM_018906.2	374	gTg/gCg	0			1			C	V/A	uc003lhf.2	protein_coding	YES	CCDS54915.1			1121/2853									ovary(6)|skin(2)	8	c.(1120-1122)GTG>GCG			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF93,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin alpha 3 isoform 1 precursor				ENSP00000429808		4-Jan										4-Jan	.		ENST00000522353	Transcript			homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	ENSG00000255408	g.chr5:140181903T>C	8669			MODERATE		0.31	neutral	getma.org/?cm=msa&ty=f&p=PCDA3_HUMAN&rb=356&re=446&var=V374A	NA	getma.org/?cm=var&var=hg19,5,140181903,T,C&fts=all	V374A	4.245	high	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.V374A		1		probably_damaging(0.947)	p.V374A	NM_018906	NP_061729		deleterious_low_confidence(0.01)		PCDA3_HUMAN	PCDHA3	HGNC	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1121	+			UPI00001273CB	374			Cadherin 4.|Extracellular (Potential).		SNV	PCDHA3,missense_variant,p.Val374Ala,ENST00000522353,NM_018906.2;PCDHA3,missense_variant,p.Val374Ala,ENST00000532566,NM_031497.1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA2,intron_variant,,ENST00000520672,NM_031496.1;PCDHA4,upstream_gene_variant,,ENST00000530339,NM_018907.2;PCDHA4,upstream_gene_variant,,ENST00000512229,;PCDHA2,downstream_gene_variant,,ENST00000378132,NM_031495.1;PCDHA4,upstream_gene_variant,,ENST00000356878,NM_031500.1;	uc003lhf.2	c.1121T>C	1121/5260	3	3			c.1121T>C						5	SNP	c.(1120-1122)GTG>GCG	59	59			ovary(6)|skin(2)	8	Broad	protocadherin alpha 3 isoform 1 precursor			140181903		0.483	ENSG00000255408	11333	g.chr5:140181903T>C	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding							33.479867	KEEP	6	14	-1	49	49	6	14	-1	45.53171	49	49	0.162162	1	0	0	0	0	1	0	0	0	4.245	high		0	C			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.V374A	107	GBM-06-6391-TP	p.V374A	T	CTGATCAGCGTGTCCGACCGC	NM_018906	NP_061729	140181903	Q9Y5H8	PCDA3_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1121	+	C	C			Missense_Mutation	374			Cadherin 4.|Extracellular (Potential).			
PCDHA3	0	broad.mit.edu	GRCh37	5	140181057	140181057	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01	TCGA-14-1450-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000522353.2:c.275G>A	p.Arg92His	p.R92H	ENST00000522353	NM_018906.2	92	cGc/cAc	0			1			A	R/H	uc003lhf.2	protein_coding	YES	CCDS54915.1			275/2853									ovary(6)|skin(2)	8	c.(274-276)CGC>CAC			Gene3D:2.60.40.60,Pfam_domain:PF08266,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF93,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin alpha 3 isoform 1 precursor				ENSP00000429808		4-Jan									COSM3409807,COSM3409806	4-Jan	.		ENST00000522353	Transcript			homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	ENSG00000255408	g.chr5:140181057G>A	8669			MODERATE		4.625	high	getma.org/?cm=msa&ty=f&p=PCDA3_HUMAN&rb=29&re=112&var=R92H	getma.org/pdb.php?prot=PCDA3_HUMAN&from=29&to=112&var=R92H	getma.org/?cm=var&var=hg19,5,140181057,G,A&fts=all	R92H	--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.R92H	1,1	1		probably_damaging(0.946)	p.R92H	NM_018906	NP_061729		deleterious_low_confidence(0)	1,1	PCDA3_HUMAN	PCDHA3	HGNC	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	275	+			UPI00001273CB	92			Cadherin 1.|Extracellular (Potential).		SNV	PCDHA3,missense_variant,p.Arg92His,ENST00000522353,NM_018906.2;PCDHA3,missense_variant,p.Arg92His,ENST00000532566,NM_031497.1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA2,intron_variant,,ENST00000520672,NM_031496.1;PCDHA2,downstream_gene_variant,,ENST00000378132,NM_031495.1;	uc003lhf.2	c.275G>A	275/5260	2	2			c.275G>A						5	SNP	c.(274-276)CGC>CAC	20	20			ovary(6)|skin(2)	8	Broad	protocadherin alpha 3 isoform 1 precursor			140181057		0.587	ENSG00000255408	11333	g.chr5:140181057G>A	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding							-76.820138	KEEP	3	4	-1	153	218	3	4	-1	7.926223	153	218	0.018462	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.R92H	145	GBM-14-1450-TP	p.R92H	G	CGGATAGACCGCGAGGAACTG	NM_018906	NP_061729	140181057	Q9Y5H8	PCDA3_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	275	+	A	A			Missense_Mutation	92			Cadherin 1.|Extracellular (Potential).			
PCDHA3	0	broad.mit.edu	GRCh37	5	140182250	140182250	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-26-6174-01	TCGA-26-6174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000522353.2:c.1468G>C	p.Val490Leu	p.V490L	ENST00000522353	NM_018906.2	490	Gtg/Ctg	0			1			C	V/L	uc003lhf.2	protein_coding	YES	CCDS54915.1			1468/2853									ovary(6)|skin(2)	8	c.(1468-1470)GTG>CTG			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF93,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin alpha 3 isoform 1 precursor				ENSP00000429808		4-Jan									COSM3409813,COSM3409812	4-Jan	.		ENST00000522353	Transcript			homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	ENSG00000255408	g.chr5:140182250G>C	8669			MODERATE		0.665	neutral	getma.org/?cm=msa&ty=f&p=PCDA3_HUMAN&rb=460&re=556&var=V490L	getma.org/pdb.php?prot=PCDA3_HUMAN&from=460&to=556&var=V490L	getma.org/?cm=var&var=hg19,5,140182250,G,C&fts=all	V490L	4.84	high	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.V490L	1,1	1		possibly_damaging(0.834)	p.V490L	NM_018906	NP_061729		deleterious_low_confidence(0.02)	1,1	PCDA3_HUMAN	PCDHA3	HGNC	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1468	+			UPI00001273CB	490			Cadherin 5.|Extracellular (Potential).		SNV	PCDHA3,missense_variant,p.Val490Leu,ENST00000522353,NM_018906.2;PCDHA3,missense_variant,p.Val490Leu,ENST00000532566,NM_031497.1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA2,intron_variant,,ENST00000520672,NM_031496.1;PCDHA4,upstream_gene_variant,,ENST00000530339,NM_018907.2;PCDHA4,upstream_gene_variant,,ENST00000512229,;PCDHA4,upstream_gene_variant,,ENST00000356878,NM_031500.1;	uc003lhf.2	c.1468G>C	1468/5260	4	4			c.1468G>C						5	SNP	c.(1468-1470)GTG>CTG	45	45			ovary(6)|skin(2)	8	Broad	protocadherin alpha 3 isoform 1 precursor			140182250		0.677	ENSG00000255408	11333	g.chr5:140182250G>C	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding							88.029063	KEEP	20	27	-1	53	82	20	27	-1	94.617204	53	82	0.258065	1	0	0	0	0	1	0	0	0	4.84	high		0	C			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.V490L	188	GBM-26-6174-TP	p.V490L	G	GAACGCCCTGGTGTCCTACTC	NM_018906	NP_061729	140182250	Q9Y5H8	PCDA3_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1468	+	C	C			Missense_Mutation	490			Cadherin 5.|Extracellular (Potential).			
PCDHA3	0	broad.mit.edu	GRCh37	5	140181750	140181750	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2615-01	TCGA-32-2615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000522353.2:c.968C>T	p.Thr323Met	p.T323M	ENST00000522353	NM_018906.2	323	aCg/aTg	0			1			T	T/M	uc003lhf.2	protein_coding	YES	CCDS54915.1			968/2853									ovary(6)|skin(2)	8	c.(967-969)ACG>ATG			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF93,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin alpha 3 isoform 1 precursor				ENSP00000429808		4-Jan	8.24E-06			0.000116					rs782724131,COSM3409809,COSM3409808	4-Jan	.		ENST00000522353	Transcript			homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	ENSG00000255408	g.chr5:140181750C>T	8669			MODERATE		2.375	medium	getma.org/?cm=msa&ty=f&p=PCDA3_HUMAN&rb=247&re=341&var=T323M	getma.org/pdb.php?prot=PCDA3_HUMAN&from=247&to=341&var=T323M	getma.org/?cm=var&var=hg19,5,140181750,C,T&fts=all	T323M	--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.T323M	0,1,1	1		possibly_damaging(0.466)	p.T323M	NM_018906	NP_061729		tolerated_low_confidence(0.06)	0,1,1	PCDA3_HUMAN	PCDHA3	HGNC	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	968	+			UPI00001273CB	323			Cadherin 3.|Extracellular (Potential).		SNV	PCDHA3,missense_variant,p.Thr323Met,ENST00000522353,NM_018906.2;PCDHA3,missense_variant,p.Thr323Met,ENST00000532566,NM_031497.1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA2,intron_variant,,ENST00000520672,NM_031496.1;PCDHA4,upstream_gene_variant,,ENST00000512229,;PCDHA2,downstream_gene_variant,,ENST00000378132,NM_031495.1;PCDHA4,upstream_gene_variant,,ENST00000356878,NM_031500.1;	uc003lhf.2	c.968C>T	968/5260	2	2			c.968C>T						5	SNP	c.(967-969)ACG>ATG	42	42			ovary(6)|skin(2)	8	Broad	protocadherin alpha 3 isoform 1 precursor			140181750		0.378	ENSG00000255408	11333	g.chr5:140181750C>T	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding							225.817289	KEEP	31	48	-1	55	60	31	48	-1	227.059476	55	60	0.411111	1	0	0	0	0	1	0	0	0	--	--		0	T			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.T323M	239	GBM-32-2615-TP	p.T323M	C	GTAGAAGCCACGGATAAAGGA	NM_018906	NP_061729	140181750	Q9Y5H8	PCDA3_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	968	+	T	T			Missense_Mutation	323			Cadherin 3.|Extracellular (Potential).			
PCDHA3	0	broad.mit.edu	GRCh37	5	140180868	140180868	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01	TCGA-41-2572-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000522353.2:c.86G>A	p.Gly29Asp	p.G29D	ENST00000522353	NM_018906.2	29	gGc/gAc	0			1			A	G/D	uc003lhf.2	protein_coding	YES	CCDS54915.1			86/2853									ovary(6)|skin(2)	8	c.(85-87)GGC>GAC			Pfam_domain:PF08266,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF93,Cleavage_site_(Signalp):SignalP-noTM,Superfamily_domains:SSF49313	protocadherin alpha 3 isoform 1 precursor				ENSP00000429808		4-Jan									COSM3409805,COSM3409804	4-Jan	.		ENST00000522353	Transcript			homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	ENSG00000255408	g.chr5:140180868G>A	8669			MODERATE		3.13	medium	getma.org/?cm=msa&ty=f&p=PCDA3_HUMAN&rb=29&re=112&var=G29D	NA	getma.org/?cm=var&var=hg19,5,140180868,G,A&fts=all	G29D	--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.G29D	1,1	1		possibly_damaging(0.784)	p.G29D	NM_018906	NP_061729		tolerated_low_confidence(0.06)	1,1	PCDA3_HUMAN	PCDHA3	HGNC	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	86	+			UPI00001273CB	29					SNV	PCDHA3,missense_variant,p.Gly29Asp,ENST00000522353,NM_018906.2;PCDHA3,missense_variant,p.Gly29Asp,ENST00000532566,NM_031497.1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA2,intron_variant,,ENST00000520672,NM_031496.1;PCDHA2,downstream_gene_variant,,ENST00000378132,NM_031495.1;	uc003lhf.2	c.86G>A	86/5260	1	1			c.86G>A						5	SNP	c.(85-87)GGC>GAC	51	51			ovary(6)|skin(2)	8	Broad	protocadherin alpha 3 isoform 1 precursor			140180868		0.637	ENSG00000255408	11333	g.chr5:140180868G>A	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding							-24.585352	KEEP	2	2	-1	61	83	2	2	-1	6.48065	61	83	0.031008	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.G29D	251	GBM-41-2572-TP	p.G29D	G	GTGGGGAGCGGCCAGCTCCAC	NM_018906	NP_061729	140180868	Q9Y5H8	PCDA3_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	86	+	A	A			Missense_Mutation	29						
PCDHA3	0	broad.mit.edu	GRCh37	5	140182972	140182972	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000522353.2:c.2190C>T	p.Gly730=	p.G730=	ENST00000522353	NM_018906.2	730	ggC/ggT	0			1			T	G	uc003lhf.2	protein_coding	YES	CCDS54915.1			2190/2853									ovary(6)|skin(2)	8	c.(2188-2190)GGC>GGT			hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF93	protocadherin alpha 3 isoform 1 precursor				ENSP00000429808		4-Jan									COSM1061907,COSM1061906	4-Jan	.		ENST00000522353	Transcript			homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	ENSG00000255408	g.chr5:140182972C>T	8669			LOW								--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.G730G	1,1	1			p.G730G	NM_018906	NP_061729			1,1	PCDA3_HUMAN	PCDHA3	HGNC	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	2190	+			UPI00001273CB	730			Cytoplasmic (Potential).		SNV	PCDHA3,synonymous_variant,p.=,ENST00000522353,NM_018906.2;PCDHA3,synonymous_variant,p.=,ENST00000532566,NM_031497.1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA2,intron_variant,,ENST00000520672,NM_031496.1;PCDHA4,upstream_gene_variant,,ENST00000530339,NM_018907.2;PCDHA4,upstream_gene_variant,,ENST00000512229,;PCDHA4,upstream_gene_variant,,ENST00000356878,NM_031500.1;	uc003lhf.2	c.2190C>T	2190/5260	2	2			c.2190C>T						5	SNP	c.(2188-2190)GGC>GGT	48	48			ovary(6)|skin(2)	8	Broad	protocadherin alpha 3 isoform 1 precursor			140182972		0.642	ENSG00000255408	11333	g.chr5:140182972C>T	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding							376.343125	KEEP	71	73	-1	97	78	71	73	-1	376.823221	97	78	0.45583	1	0	0	0	0	0	0	1	0	--	--		0	T			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.G730G	265	GBM-76-4925-TP	p.G730G	C	CAACCGAAGGCGACTGTGGGC	NM_018906	NP_061729	140182972	Q9Y5H8	PCDA3_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2190	+	T	T			Silent	730			Cytoplasmic (Potential).			
PCDHA4	56144	broad.mit.edu	GRCh37	5	140188279	140188279	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000530339.1:c.1507G>A	p.Ala503Thr	p.A503T	ENST00000530339	NM_018907.2	503	Gcg/Acg	0			1			A	A/T	uc003lhi.2	protein_coding	YES	CCDS54916.1			1507/2844									ovary(4)|skin(2)	6	c.(1507-1509)GCG>ACG			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF82,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin alpha 4 isoform 1 precursor				ENSP00000435300		4-Jan									COSM3393187,COSM3393186	4-Jan	.		ENST00000530339	Transcript			homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	ENSG00000204967	g.chr5:140188279G>A	8670			MODERATE		0.06	neutral	getma.org/?cm=msa&ty=f&p=PCDA4_HUMAN&rb=460&re=556&var=A503T	getma.org/pdb.php?prot=PCDA4_HUMAN&from=460&to=556&var=A503T	getma.org/?cm=var&var=hg19,5,140188279,G,A&fts=all	A503T	--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.A503T|PCDHA4_uc011daa.1_Missense_Mutation_p.A503T	1,1	1		benign(0.055)	p.A503T	NM_018907	NP_061730		tolerated_low_confidence(0.11)	1,1	PCDA4_HUMAN	PCDHA4	HGNC	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1608	+			UPI00001273CC	503			Cadherin 5.|Extracellular (Potential).		SNV	PCDHA4,missense_variant,p.Ala503Thr,ENST00000530339,NM_018907.2;PCDHA4,missense_variant,p.Ala503Thr,ENST00000512229,;PCDHA4,missense_variant,p.Ala503Thr,ENST00000356878,NM_031500.1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA2,downstream_gene_variant,,ENST00000520672,NM_031496.1;	uc003lhi.2	c.1507G>A	1507/5251	1	1			c.1507G>A						5	SNP	c.(1507-1509)GCG>ACG	59	59			ovary(4)|skin(2)	6	Broad	protocadherin alpha 4 isoform 1 precursor			140188279		0.662	ENSG00000204967	11334	g.chr5:140188279G>A	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding							265.421069	KEEP	43	53	-1	14	17	43	53	-1	272.088521	14	17	0.756757	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.A503T|PCDHA4_uc011daa.1_Missense_Mutation_p.A503T	102	GBM-06-5858-TP	p.A503T	G	AGGGGAGCGCGCGCTGTCGAG	NM_018907	NP_061730	140188279	Q9UN74	PCDA4_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1608	+	A	A			Missense_Mutation	503			Cadherin 5.|Extracellular (Potential).			
PCDHA4	0	broad.mit.edu	GRCh37	5	140188686	140188686	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-2620-01	TCGA-19-2620-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000530339.1:c.1914C>T	p.Asp638=	p.D638=	ENST00000530339	NM_018907.2	638	gaC/gaT	0			1			T	D	uc003lhi.2	protein_coding	YES	CCDS54916.1			1914/2844									ovary(4)|skin(2)	6	c.(1912-1914)GAC>GAT			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF82,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin alpha 4 isoform 1 precursor				ENSP00000435300		4-Jan	8.24E-06					1.51E-05			rs781864694,COSM3409815,COSM3409814	4-Jan	.		ENST00000530339	Transcript			homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	ENSG00000204967	g.chr5:140188686C>T	8670			LOW								--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.D638D|PCDHA4_uc011daa.1_Silent_p.D638D	0,1,1	1			p.D638D	NM_018907	NP_061730			0,1,1	PCDA4_HUMAN	PCDHA4	HGNC	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	2015	+			UPI00001273CC	638			Cadherin 6.|Extracellular (Potential).		SNV	PCDHA4,synonymous_variant,p.=,ENST00000530339,NM_018907.2;PCDHA4,synonymous_variant,p.=,ENST00000512229,;PCDHA4,synonymous_variant,p.=,ENST00000356878,NM_031500.1;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA2,downstream_gene_variant,,ENST00000520672,NM_031496.1;	uc003lhi.2	c.1914C>T	1914/5251	2	2			c.1914C>T						5	SNP	c.(1912-1914)GAC>GAT	42	42			ovary(4)|skin(2)	6	Broad	protocadherin alpha 4 isoform 1 precursor			140188686		0.677	ENSG00000204967	11334	g.chr5:140188686C>T	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding							68.988758	KEEP	20	13	-1	59	47	20	13	-1	76.883631	59	47	0.238095	1	0	0	0	0	0	0	1	0	--	--		0	T			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.D638D|PCDHA4_uc011daa.1_Silent_p.D638D	162	GBM-19-2620-TP	p.D638D	C	GTGCCCTGGACGAAACGGACG	NM_018907	NP_061730	140188686	Q9UN74	PCDA4_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2015	+	T	T			Silent	638			Cadherin 6.|Extracellular (Potential).			
PCDHA4	0	broad.mit.edu	GRCh37	5	140189035	140189035	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-4208-01	TCGA-32-4208-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000530339.1:c.2263A>G	p.Arg755Gly	p.R755G	ENST00000530339	NM_018907.2	755	Agg/Ggg	0			1			G	R/G	uc003lhi.2	protein_coding	YES	CCDS54916.1			2263/2844									ovary(4)|skin(2)	6	c.(2263-2265)AGG>GGG			hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF82	protocadherin alpha 4 isoform 1 precursor				ENSP00000435300		4-Jan									COSM3409817,COSM3409816	4-Jan	.		ENST00000530339	Transcript			homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	ENSG00000204967	g.chr5:140189035A>G	8670			MODERATE		2.62	medium	getma.org/?cm=msa&ty=f&p=PCDA4_HUMAN&rb=671&re=790&var=R755G	NA	getma.org/?cm=var&var=hg19,5,140189035,A,G&fts=all	R755G	0.14	neutral	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.R755G|PCDHA4_uc011daa.1_Missense_Mutation_p.R755G	1,1	1		benign(0.005)	p.R755G	NM_018907	NP_061730		tolerated_low_confidence(0.1)	1,1	PCDA4_HUMAN	PCDHA4	HGNC	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	2364	+			UPI00001273CC	755			Cytoplasmic (Potential).|6 X 4 AA repeats of P-X-X-P.		SNV	PCDHA4,missense_variant,p.Arg755Gly,ENST00000530339,NM_018907.2;PCDHA4,missense_variant,p.Arg755Gly,ENST00000512229,;PCDHA4,missense_variant,p.Arg755Gly,ENST00000356878,NM_031500.1;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA2,downstream_gene_variant,,ENST00000520672,NM_031496.1;	uc003lhi.2	c.2263A>G	2263/5251	3	3			c.2263A>G						5	SNP	c.(2263-2265)AGG>GGG	6	6			ovary(4)|skin(2)	6	Broad	protocadherin alpha 4 isoform 1 precursor			140189035		0.662	ENSG00000204967	11334	g.chr5:140189035A>G	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding							-36.508959	KEEP	4	1	-1	76	102	4	1	-1	6.914271	76	102	0.018072	1	0	0	0	0	1	0	0	0	0.14	neutral		0	G			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.R755G|PCDHA4_uc011daa.1_Missense_Mutation_p.R755G	243	GBM-32-4208-TP	p.R755G	A	GCAGCAGAGGAGGCCGAGGGT	NM_018907	NP_061730	140189035	Q9UN74	PCDA4_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2364	+	G	G			Missense_Mutation	755			Cytoplasmic (Potential).|6 X 4 AA repeats of P-X-X-P.			
PCDHA4	56144		GRCh37	5	140188686	140188686	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000530339.1:c.1914C>T	p.Asp638=	p.D638=	ENST00000530339	NM_018907.2	638	gaC/gaT	0																																																																																																																																																																																																																																												
PCDHA5	0	broad.mit.edu	GRCh37	5	140202989	140202989	+	synonymous_variant	Silent	SNP	T	T	A			TCGA-14-3476-01	TCGA-14-3476-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000529859.1:c.1629T>A	p.Pro543=	p.P543=	ENST00000529859	NM_018908.2	543	ccT/ccA	0			1			A	P	uc003lhl.2	protein_coding	YES	CCDS54917.1			1629/2811									ovary(1)|breast(1)|skin(1)	3	c.(1627-1629)CCT>CCA			PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF111,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin alpha 5 isoform 1 precursor				ENSP00000436557		4-Jan									COSM3409823,COSM3409824,COSM3409822	4-Jan	.		ENST00000529859	Transcript			homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	ENSG00000204965	g.chr5:140202989T>A	8671			LOW								--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.P543P|PCDHA5_uc003lhj.1_Silent_p.P543P	1,1,1	1			p.P543P	NM_018908	NP_061731			1,1,1	PCDA5_HUMAN	PCDHA5	HGNC	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1629	+			UPI00001273CD	543			Extracellular (Potential).|Cadherin 5.		SNV	PCDHA5,synonymous_variant,p.=,ENST00000529859,NM_018908.2;PCDHA5,synonymous_variant,p.=,ENST00000529619,;PCDHA5,synonymous_variant,p.=,ENST00000378126,NM_031501.1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA6,upstream_gene_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA6,upstream_gene_variant,,ENST00000527624,;	uc003lhl.2	c.1629T>A	1629/5218	2	2			c.1629T>A						5	SNP	c.(1627-1629)CCT>CCA	21	21			ovary(1)|breast(1)|skin(1)	3	Broad	protocadherin alpha 5 isoform 1 precursor			140202989		0.701	ENSG00000204965	11335	g.chr5:140202989T>A	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding							91.06647	KEEP	32	27	-1	76	84	32	27	-1	96.353537	76	84	0.282258	1	0	0	0	0	0	0	1	0	--	--		0	A			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.P543P|PCDHA5_uc003lhj.1_Silent_p.P543P	151	GBM-14-3476-TP	p.P543P	T	GCGTGCCGCCTCTGGGCAGCA	NM_018908	NP_061731	140202989	Q9Y5H7	PCDA5_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1629	+	A	A			Silent	543			Extracellular (Potential).|Cadherin 5.			
PCDHA5	0	broad.mit.edu	GRCh37	5	140203141	140203141	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2619-01	TCGA-19-2619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000529859.1:c.1781G>A	p.Arg594His	p.R594H	ENST00000529859	NM_018908.2	594	cGc/cAc	0			1			A	R/H	uc003lhl.2	protein_coding	YES	CCDS54917.1			1781/2811									ovary(1)|breast(1)|skin(1)	3	c.(1780-1782)CGC>CAC			PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF111,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin alpha 5 isoform 1 precursor				ENSP00000436557		4-Jan	8.24E-06							6.06E-05	rs782698382,COSM2156173,COSM3409828,COSM2156172	4-Jan	.		ENST00000529859	Transcript			homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	ENSG00000204965	g.chr5:140203141G>A	8671			MODERATE		1.625	low	getma.org/?cm=msa&ty=f&p=PCDA5_HUMAN&rb=578&re=669&var=R594H	getma.org/pdb.php?prot=PCDA5_HUMAN&from=578&to=669&var=R594H	getma.org/?cm=var&var=hg19,5,140203141,G,A&fts=all	R594H	--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.R594H|PCDHA5_uc003lhj.1_Missense_Mutation_p.R594H	0,1,1,1	1		benign(0.276)	p.R594H	NM_018908	NP_061731		tolerated_low_confidence(0.07)	0,1,1,1	PCDA5_HUMAN	PCDHA5	HGNC	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1781	+			UPI00001273CD	594			Extracellular (Potential).|Cadherin 6.		SNV	PCDHA5,missense_variant,p.Arg594His,ENST00000529859,NM_018908.2;PCDHA5,missense_variant,p.Arg594His,ENST00000529619,;PCDHA5,missense_variant,p.Arg594His,ENST00000378126,NM_031501.1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA6,upstream_gene_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA6,upstream_gene_variant,,ENST00000527624,;	uc003lhl.2	c.1781G>A	1781/5218	2	2			c.1781G>A						5	SNP	c.(1780-1782)CGC>CAC	28	28			ovary(1)|breast(1)|skin(1)	3	Broad	protocadherin alpha 5 isoform 1 precursor			140203141		0.697	ENSG00000204965	11335	g.chr5:140203141G>A	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding							156.865882	KEEP	29	25	-1	40	24	29	25	-1	156.935684	40	24	0.473214	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.R594H|PCDHA5_uc003lhj.1_Missense_Mutation_p.R594H	161	GBM-19-2619-TP	p.R594H	G	GCGAAGGTGCGCGCAGTGGAC	NM_018908	NP_061731	140203141	Q9Y5H7	PCDA5_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1781	+	A	A			Missense_Mutation	594			Extracellular (Potential).|Cadherin 6.			
PCDHA5	0	broad.mit.edu	GRCh37	5	140202723	140202723	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4927-01	TCGA-76-4927-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000529859.1:c.1363G>A	p.Ala455Thr	p.A455T	ENST00000529859	NM_018908.2	455	Gcg/Acg	0			1			A	A/T	uc003lhl.2	protein_coding	YES	CCDS54917.1			1363/2811									ovary(1)|breast(1)|skin(1)	3	c.(1363-1365)GCG>ACG			PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF111,Gene3D:2.60.40.60,Superfamily_domains:SSF49313,Prints_domain:PR00205	protocadherin alpha 5 isoform 1 precursor				ENSP00000436557		4-Jan									COSM3409819,COSM3409820,COSM3409818	4-Jan	.		ENST00000529859	Transcript			homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	ENSG00000204965	g.chr5:140202723G>A	8671			MODERATE		-0.095	neutral	getma.org/?cm=msa&ty=f&p=PCDA5_HUMAN&rb=455&re=564&var=A455T	NA	getma.org/?cm=var&var=hg19,5,140202723,G,A&fts=all	A455T	--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.A455T|PCDHA5_uc003lhj.1_Missense_Mutation_p.A455T	1,1,1	1		benign(0.04)	p.A455T	NM_018908	NP_061731		tolerated_low_confidence(0.07)	1,1,1	PCDA5_HUMAN	PCDHA5	HGNC	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1363	+			UPI00001273CD	455			Extracellular (Potential).|Cadherin 5.		SNV	PCDHA5,missense_variant,p.Ala455Thr,ENST00000529859,NM_018908.2;PCDHA5,missense_variant,p.Ala455Thr,ENST00000529619,;PCDHA5,missense_variant,p.Ala455Thr,ENST00000378126,NM_031501.1;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA6,upstream_gene_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA6,upstream_gene_variant,,ENST00000527624,;	uc003lhl.2	c.1363G>A	1363/5218	2	2			c.1363G>A						5	SNP	c.(1363-1365)GCG>ACG	32	32			ovary(1)|breast(1)|skin(1)	3	Broad	protocadherin alpha 5 isoform 1 precursor			140202723		0.677	ENSG00000204965	11335	g.chr5:140202723G>A	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding							136.673386	KEEP	28	31	-1	47	61	28	31	-1	139.777875	47	61	0.350318	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.A455T|PCDHA5_uc003lhj.1_Missense_Mutation_p.A455T	267	GBM-76-4927-TP	p.A455T	G	TCCGGCGTTCGCGCAGCCCCA	NM_018908	NP_061731	140202723	Q9Y5H7	PCDA5_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1363	+	A	A			Missense_Mutation	455			Extracellular (Potential).|Cadherin 5.			
PCDHA5	0	broad.mit.edu	GRCh37	5	140202968	140202968	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4934-01	TCGA-76-4934-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000529859.1:c.1608G>A	p.Ala536=	p.A536=	ENST00000529859	NM_018908.2	536	gcG/gcA	0	A:0		1			A	A	uc003lhl.2	protein_coding	YES	CCDS54917.1			1608/2811									ovary(1)|breast(1)|skin(1)	3	c.(1606-1608)GCG>GCA			PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF111,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	protocadherin alpha 5 isoform 1 precursor			A:0.0002	ENSP00000436557		4-Jan	0.000108			0.000119		0.000186			rs201301158,COSM1433822,COSM3409821,COSM1433821	4-Jan	.		ENST00000529859	Transcript			homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	ENSG00000204965	g.chr5:140202968G>A	8671			LOW								--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.A536A|PCDHA5_uc003lhj.1_Silent_p.A536A	0,1,1,1	1			p.A536A	NM_018908	NP_061731			0,1,1,1	PCDA5_HUMAN	PCDHA5	HGNC	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1608	+			UPI00001273CD	536			Extracellular (Potential).|Cadherin 5.		SNV	PCDHA5,synonymous_variant,p.=,ENST00000529859,NM_018908.2;PCDHA5,synonymous_variant,p.=,ENST00000529619,;PCDHA5,synonymous_variant,p.=,ENST00000378126,NM_031501.1;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA6,upstream_gene_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA6,upstream_gene_variant,,ENST00000527624,;	uc003lhl.2	c.1608G>A	1608/5218	2	2			c.1608G>A						5	SNP	c.(1606-1608)GCG>GCA	48	48			ovary(1)|breast(1)|skin(1)	3	Broad	protocadherin alpha 5 isoform 1 precursor			140202968		0.677	ENSG00000204965	11335	g.chr5:140202968G>A	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding							161.562276	KEEP	27	39	-1	52	71	27	39	-1	163.47267	52	71	0.382166	1	0	0	0	0	0	0	1	0	--	--		0	A			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.A536A|PCDHA5_uc003lhj.1_Silent_p.A536A	272	GBM-76-4934-TP	p.A536A	G	AGGTGAGCGCGCGCGACGCGG	NM_018908	NP_061731	140202968	Q9Y5H7	PCDA5_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1608	+	A	A			Silent	536			Extracellular (Potential).|Cadherin 5.			
PCDHA5	56143		GRCh37	5	140203028	140203028	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000529859.1:c.1668C>T	p.Asp556=	p.D556=	ENST00000529859	NM_018908.2	556	gaC/gaT	0																																																																																																																																																																																																																																												
PCDHA6	0	broad.mit.edu	GRCh37	5	140209539	140209539	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5947-01	TCGA-19-5947-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000529310.1:c.1863G>A	p.Pro621=	p.P621=	ENST00000529310	NM_018909.2	621	ccG/ccA	0			1			A	P	uc003lho.2	protein_coding	YES	CCDS47281.1			1863/2853									haematopoietic_and_lymphoid_tissue(1)|skin(1)	2	c.(1861-1863)CCG>CCA			PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF83,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin alpha 6 isoform 1 precursor				ENSP00000433378		4-Jan	8.24E-06					1.50E-05			rs782199993,COSM2156522,COSM2156521	4-Jan	.		ENST00000529310	Transcript			homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	ENSG00000081842	g.chr5:140209539G>A	8672			LOW								--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Silent_p.P621P	0,1,1	1			p.P621P	NM_018909	NP_061732			0,1,1	PCDA6_HUMAN	PCDHA6	HGNC	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1890	+			UPI00001273CE	621			Cadherin 6.|Extracellular (Potential).		SNV	PCDHA6,synonymous_variant,p.=,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA7,upstream_gene_variant,,ENST00000525929,NM_018910.2;PCDHA7,upstream_gene_variant,,ENST00000378125,NM_031852.1;	uc003lho.2	c.1863G>A	1977/5374	1	1			c.1863G>A						5	SNP	c.(1861-1863)CCG>CCA	61	61			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2	Broad	protocadherin alpha 6 isoform 1 precursor			140209539		0.657	ENSG00000081842	11336	g.chr5:140209539G>A	homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding							72.871148	KEEP	11	20	-1	27	54	11	20	-1	76.74934	27	54	0.28866	1	0	0	0	0	0	0	1	0	--	--		0	A			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Silent_p.P621P	169	GBM-19-5947-TP	p.P621P	G	CTCGCTTCCCGTTTCGCGTGG	NM_018909	NP_061732	140209539	Q9UN73	PCDA6_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1890	+	A	A			Silent	621			Cadherin 6.|Extracellular (Potential).			
PCDHA6	0	broad.mit.edu	GRCh37	5	140208958	140208958	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01	TCGA-19-5951-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000529310.1:c.1282C>T	p.Arg428Trp	p.R428W	ENST00000529310	NM_018909.2	428	Cgg/Tgg	0			1			T	R/W	uc003lho.2	protein_coding	YES	CCDS47281.1			1282/2853									haematopoietic_and_lymphoid_tissue(1)|skin(1)	2	c.(1282-1284)CGG>TGG			PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF83,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205	protocadherin alpha 6 isoform 1 precursor				ENSP00000433378		4-Jan									COSM2156648,COSM2156647	4-Jan	.		ENST00000529310	Transcript			homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	ENSG00000081842	g.chr5:140208958C>T	8672			MODERATE		0.99	low	getma.org/?cm=msa&ty=f&p=PCDA6_HUMAN&rb=355&re=446&var=R428W	NA	getma.org/?cm=var&var=hg19,5,140208958,C,T&fts=all	R428W	--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.R428W|PCDHA6_uc011dab.1_Missense_Mutation_p.R428W	1,1	1		possibly_damaging(0.461)	p.R428W	NM_018909	NP_061732		deleterious_low_confidence(0.04)	1,1	PCDA6_HUMAN	PCDHA6	HGNC	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1309	+			UPI00001273CE	428			Cadherin 4.|Extracellular (Potential).		SNV	PCDHA6,missense_variant,p.Arg428Trp,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA6,missense_variant,p.Arg428Trp,ENST00000527624,;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;	uc003lho.2	c.1282C>T	1396/5374	2	2			c.1282C>T						5	SNP	c.(1282-1284)CGG>TGG	44	44			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2	Broad	protocadherin alpha 6 isoform 1 precursor			140208958		0.617	ENSG00000081842	11336	g.chr5:140208958C>T	homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding							184.420058	KEEP	33	40	-1	81	85	33	40	-1	187.372284	81	85	0.363128	1	0	0	0	0	1	0	0	0	--	--		0	T			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.R428W|PCDHA6_uc011dab.1_Missense_Mutation_p.R428W	171	GBM-19-5951-TP	p.R428W	C	GGTAACCGCGCGGGACGGGGG	NM_018909	NP_061732	140208958	Q9UN73	PCDA6_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1309	+	T	T			Missense_Mutation	428			Cadherin 4.|Extracellular (Potential).			
PCDHA7	56141	broad.mit.edu	GRCh37	5	140215715	140215715	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000525929.1:c.1747C>T	p.Arg583Trp	p.R583W	ENST00000525929	NM_018910.2	583	Cgg/Tgg	0			1			T	R/W	uc003lhq.2	protein_coding	YES	CCDS54918.1			1747/2814									ovary(2)|skin(2)	4	c.(1747-1749)CGG>TGG			Superfamily_domains:SSF49313,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF67,PROSITE_profiles:PS50268	protocadherin alpha 7 isoform 1 precursor				ENSP00000436426		4-Jan									COSM1261308,COSM1261307	4-Jan	.		ENST00000525929	Transcript			homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	ENSG00000204963	g.chr5:140215715C>T	8673			MODERATE		2.52	medium	getma.org/?cm=msa&ty=f&p=PCDA7_HUMAN&rb=580&re=670&var=R583W	getma.org/pdb.php?prot=PCDA7_HUMAN&from=580&to=670&var=R583W	getma.org/?cm=var&var=hg19,5,140215715,C,T&fts=all	R583W	--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.R583W	1,1	1		benign(0.149)	p.R583W	NM_018910	NP_061733		tolerated_low_confidence(0.05)	1,1	PCDA7_HUMAN	PCDHA7	HGNC	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1747	+			UPI00001273CF	583			Cadherin 6.|Extracellular (Potential).		SNV	PCDHA7,missense_variant,p.Arg583Trp,ENST00000525929,NM_018910.2;PCDHA7,missense_variant,p.Arg583Trp,ENST00000378125,NM_031852.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,;	uc003lhq.2	c.1747C>T	1747/5221	1	1			c.1747C>T						5	SNP	c.(1747-1749)CGG>TGG	8	8			ovary(2)|skin(2)	4	Broad	protocadherin alpha 7 isoform 1 precursor			140215715		0.657	ENSG00000204963	11337	g.chr5:140215715C>T	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	NSCLC(160;258 2013 5070 22440 28951)			NSCLC(160;258 2013 5070 22440 28951)			25.131918	KEEP	12	9	-1	42	70	12	9	-1	40.571912	42	70	0.147287	1	0	0	0	0	1	0	0	0	--	--		0	T			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.R583W	65	GBM-06-0743-TP	p.R583W	C	GCTTGTGCCGCGGTCTGTGGG	NM_018910	NP_061733	140215715	Q9UN72	PCDA7_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1747	+	T	T			Missense_Mutation	583			Cadherin 6.|Extracellular (Potential).			
PCDHA7	0	broad.mit.edu	GRCh37	5	140215418	140215418	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000525929.1:c.1450G>A	p.Ala484Thr	p.A484T	ENST00000525929	NM_018910.2	484	Gcg/Acg	0			1			A	A/T	uc003lhq.2	protein_coding	YES	CCDS54918.1			1450/2814									ovary(2)|skin(2)	4	c.(1450-1452)GCG>ACG			Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF67,PROSITE_profiles:PS50268	protocadherin alpha 7 isoform 1 precursor				ENSP00000436426		4-Jan	8.24E-06		8.66E-05						rs781842437,COSM3240501,COSM3240500	4-Jan	.		ENST00000525929	Transcript			homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	ENSG00000204963	g.chr5:140215418G>A	8673			MODERATE		-0.205	neutral	getma.org/?cm=msa&ty=f&p=PCDA7_HUMAN&rb=460&re=556&var=A484T	getma.org/pdb.php?prot=PCDA7_HUMAN&from=460&to=556&var=A484T	getma.org/?cm=var&var=hg19,5,140215418,G,A&fts=all	A484T	--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.A484T	0,1,1	1		benign(0.3)	p.A484T	NM_018910	NP_061733		tolerated_low_confidence(0.05)	0,1,1	PCDA7_HUMAN	PCDHA7	HGNC	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1450	+			UPI00001273CF	484			Cadherin 5.|Extracellular (Potential).		SNV	PCDHA7,missense_variant,p.Ala484Thr,ENST00000525929,NM_018910.2;PCDHA7,missense_variant,p.Ala484Thr,ENST00000378125,NM_031852.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,;	uc003lhq.2	c.1450G>A	1450/5221	1	1			c.1450G>A						5	SNP	c.(1450-1452)GCG>ACG	60	60			ovary(2)|skin(2)	4	Broad	protocadherin alpha 7 isoform 1 precursor			140215418		0.677	ENSG00000204963	11337	g.chr5:140215418G>A	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	NSCLC(160;258 2013 5070 22440 28951)			NSCLC(160;258 2013 5070 22440 28951)			71.705815	KEEP	17	14	-1	15	22	17	14	-1	71.79876	15	22	0.457627	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.A484T	177	GBM-19-5959-TP	p.A484T	G	GGACGCGGACGCGCAGAAGAA	NM_018910	NP_061733	140215418	Q9UN72	PCDA7_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1450	+	A	A			Missense_Mutation	484			Cadherin 5.|Extracellular (Potential).			
PCDHA7	0	broad.mit.edu	GRCh37	5	140215867	140215867	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-5134-01	TCGA-26-5134-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000525929.1:c.1899G>A	p.Thr633=	p.T633=	ENST00000525929	NM_018910.2	633	acG/acA	0			1			A	T	uc003lhq.2	protein_coding	YES	CCDS54918.1			1899/2814									ovary(2)|skin(2)	4	c.(1897-1899)ACG>ACA			Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF67,PROSITE_profiles:PS50268	protocadherin alpha 7 isoform 1 precursor				ENSP00000436426		4-Jan									COSM2157029,COSM2157028	4-Jan	.		ENST00000525929	Transcript			homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	ENSG00000204963	g.chr5:140215867G>A	8673			LOW								--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.T633T	1,1	1			p.T633T	NM_018910	NP_061733			1,1	PCDA7_HUMAN	PCDHA7	HGNC	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1899	+			UPI00001273CF	633			Cadherin 6.|Extracellular (Potential).		SNV	PCDHA7,synonymous_variant,p.=,ENST00000525929,NM_018910.2;PCDHA7,synonymous_variant,p.=,ENST00000378125,NM_031852.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,;	uc003lhq.2	c.1899G>A	1899/5221	1	1			c.1899G>A						5	SNP	c.(1897-1899)ACG>ACA	56	56			ovary(2)|skin(2)	4	Broad	protocadherin alpha 7 isoform 1 precursor			140215867		0.647	ENSG00000204963	11337	g.chr5:140215867G>A	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	NSCLC(160;258 2013 5070 22440 28951)			NSCLC(160;258 2013 5070 22440 28951)			153.951997	KEEP	31	27	-1	38	31	31	27	-1	154.357538	38	31	0.438017	1	0	0	0	0	0	0	1	0	--	--		0	A			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.T633T	183	GBM-26-5134-TP	p.T633T	G	AGATCAGCACGACACGAGCCC	NM_018910	NP_061733	140215867	Q9UN72	PCDA7_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1899	+	A	A			Silent	633			Cadherin 6.|Extracellular (Potential).			
PCDHA7	0	broad.mit.edu	GRCh37	5	140215694	140215694	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000525929.1:c.1726G>A	p.Ala576Thr	p.A576T	ENST00000525929	NM_018910.2	576	Gca/Aca	0			1			A	A/T	uc003lhq.2	protein_coding	YES	CCDS54918.1			1726/2814									ovary(2)|skin(2)	4	c.(1726-1728)GCA>ACA			Superfamily_domains:SSF49313,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF67	protocadherin alpha 7 isoform 1 precursor				ENSP00000436426		4-Jan	8.24E-06					1.50E-05			rs782034445,COSM1567451,COSM1567450	4-Jan	.		ENST00000525929	Transcript			homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	ENSG00000204963	g.chr5:140215694G>A	8673			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=PCDA7_HUMAN&rb=527&re=609&var=A576T	getma.org/pdb.php?prot=PCDA7_HUMAN&from=557&to=579&var=A576T	getma.org/?cm=var&var=hg19,5,140215694,G,A&fts=all	A576T	--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.A576T	0,1,1	1		benign(0.007)	p.A576T	NM_018910	NP_061733		tolerated_low_confidence(0.13)	0,1,1	PCDA7_HUMAN	PCDHA7	HGNC	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1726	+			UPI00001273CF	576			Extracellular (Potential).		SNV	PCDHA7,missense_variant,p.Ala576Thr,ENST00000525929,NM_018910.2;PCDHA7,missense_variant,p.Ala576Thr,ENST00000378125,NM_031852.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,;	uc003lhq.2	c.1726G>A	1726/5221	2	2			c.1726G>A						5	SNP	c.(1726-1728)GCA>ACA	27	27			ovary(2)|skin(2)	4	Broad	protocadherin alpha 7 isoform 1 precursor			140215694		0.662	ENSG00000204963	11337	g.chr5:140215694G>A	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	NSCLC(160;258 2013 5070 22440 28951)			NSCLC(160;258 2013 5070 22440 28951)			59.058637	KEEP	8	17	-1	35	35	8	17	-1	63.652378	35	35	0.263736	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.A576T	235	GBM-32-2491-TP	p.A576T	G	CACTGGTGGCGCAGTGAGAGA	NM_018910	NP_061733	140215694	Q9UN72	PCDA7_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1726	+	A	A			Missense_Mutation	576			Extracellular (Potential).			
PCDHA8	56140	broad.mit.edu	GRCh37	5	140222411	140222411	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0128-01	TCGA-06-0128-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000531613.1:c.1505G>A	p.Arg502His	p.R502H	ENST00000531613	NM_018911.2	502	cGc/cAc	0			1			A	R/H	uc003lhs.2	protein_coding	YES	CCDS54919.1			1505/2853									upper_aerodigestive_tract(1)|ovary(1)	2	c.(1504-1506)CGC>CAC			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF83,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin alpha 8 isoform 1 precursor				ENSP00000434655		4-Jan									COSM1433923,COSM1433922	4-Jan	.		ENST00000531613	Transcript			homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	ENSG00000204962	g.chr5:140222411G>A	8674			MODERATE		1.21	low	getma.org/?cm=msa&ty=f&p=PCDA8_HUMAN&rb=460&re=556&var=R502H	getma.org/pdb.php?prot=PCDA8_HUMAN&from=460&to=556&var=R502H	getma.org/?cm=var&var=hg19,5,140222411,G,A&fts=all	R502H	--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.R502H	1,1	1		benign(0.214)	p.R502H	NM_018911	NP_061734		deleterious_low_confidence(0.01)	1,1	PCDA8_HUMAN	PCDHA8	HGNC	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1505	+			UPI00001273D0	502			Cadherin 5.|Extracellular (Potential).		SNV	PCDHA8,missense_variant,p.Arg502His,ENST00000531613,NM_018911.2;PCDHA8,missense_variant,p.Arg502His,ENST00000378123,NM_031856.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA9,upstream_gene_variant,,ENST00000378122,NM_014005.3;PCDHA9,upstream_gene_variant,,ENST00000532602,NM_031857.1;	uc003lhs.2	c.1505G>A	1505/5260	2	2			c.1505G>A						5	SNP	c.(1504-1506)CGC>CAC	36	36			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	protocadherin alpha 8 isoform 1 precursor			140222411		0.672	ENSG00000204962	11338	g.chr5:140222411G>A	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding							13.501703	KEEP	8	4	-1	43	35	8	4	-1	23.049414	43	35	0.135135	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.R502H	14	GBM-06-0128-TP	p.R502H	G	GTGGGCGAGCGCTCGCTGTCG	NM_018911	NP_061734	140222411	Q9Y5H6	PCDA8_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1505	+	A	A			Missense_Mutation	502			Cadherin 5.|Extracellular (Potential).			
PCDHA8	56140	broad.mit.edu	GRCh37	5	140222780	140222780	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0744-01	TCGA-06-0744-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000531613.1:c.1874G>T	p.Gly625Val	p.G625V	ENST00000531613	NM_018911.2	625	gGg/gTg	0			1			T	G/V	uc003lhs.2	protein_coding	YES	CCDS54919.1			1874/2853									upper_aerodigestive_tract(1)|ovary(1)	2	c.(1873-1875)GGG>GTG			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF83,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin alpha 8 isoform 1 precursor				ENSP00000434655		4-Jan									COSM3409836,COSM3409835	4-Jan	.		ENST00000531613	Transcript			homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	ENSG00000204962	g.chr5:140222780G>T	8674			MODERATE		2.85	medium	getma.org/?cm=msa&ty=f&p=PCDA8_HUMAN&rb=581&re=670&var=G625V	getma.org/pdb.php?prot=PCDA8_HUMAN&from=581&to=670&var=G625V	getma.org/?cm=var&var=hg19,5,140222780,G,T&fts=all	G625V	--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.G625V	1,1	1		possibly_damaging(0.87)	p.G625V	NM_018911	NP_061734		deleterious_low_confidence(0)	1,1	PCDA8_HUMAN	PCDHA8	HGNC	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1874	+			UPI00001273D0	625			Cadherin 6.|Extracellular (Potential).		SNV	PCDHA8,missense_variant,p.Gly625Val,ENST00000531613,NM_018911.2;PCDHA8,missense_variant,p.Gly625Val,ENST00000378123,NM_031856.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA9,upstream_gene_variant,,ENST00000378122,NM_014005.3;PCDHA9,upstream_gene_variant,,ENST00000532602,NM_031857.1;	uc003lhs.2	c.1874G>T	1874/5260	2	2			c.1874G>T						5	SNP	c.(1873-1875)GGG>GTG	19	19			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	protocadherin alpha 8 isoform 1 precursor			140222780		0.652	ENSG00000204962	11338	g.chr5:140222780G>T	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding							181.357008	KEEP	43	20	0.682539683	34	20	43	20	0.682539683	181.660707	34	20	0.554545	1	0	0	0	0	1	0	0	0	--	--		0	T			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.G625V	66	GBM-06-0744-TP	p.G625V	G	TTCCGCGTGGGGCTGTACACG	NM_018911	NP_061734	140222780	Q9Y5H6	PCDA8_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1874	+	T	T			Missense_Mutation	625			Cadherin 6.|Extracellular (Potential).			
PCDHA8	56140	broad.mit.edu	GRCh37	5	140222517	140222517	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0878-01	TCGA-06-0878-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000531613.1:c.1611G>A	p.Ala537=	p.A537=	ENST00000531613	NM_018911.2	537	gcG/gcA	0			1			A	A	uc003lhs.2	protein_coding	YES	CCDS54919.1			1611/2853									upper_aerodigestive_tract(1)|ovary(1)	2	c.(1609-1611)GCG>GCA			Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF83,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin alpha 8 isoform 1 precursor				ENSP00000434655		4-Jan									COSM3409834,COSM3409833	4-Jan	.		ENST00000531613	Transcript			homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	ENSG00000204962	g.chr5:140222517G>A	8674			LOW								--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.A537A	1,1	1			p.A537A	NM_018911	NP_061734			1,1	PCDA8_HUMAN	PCDHA8	HGNC	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1611	+			UPI00001273D0	537			Cadherin 5.|Extracellular (Potential).		SNV	PCDHA8,synonymous_variant,p.=,ENST00000531613,NM_018911.2;PCDHA8,synonymous_variant,p.=,ENST00000378123,NM_031856.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,;PCDHA9,upstream_gene_variant,,ENST00000378122,NM_014005.3;PCDHA9,upstream_gene_variant,,ENST00000532602,NM_031857.1;	uc003lhs.2	c.1611G>A	1611/5260	2	2			c.1611G>A						5	SNP	c.(1609-1611)GCG>GCA	27	27			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	protocadherin alpha 8 isoform 1 precursor			140222517		0.667	ENSG00000204962	11338	g.chr5:140222517G>A	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding							207.193265	KEEP	41	40	-1	83	65	41	40	-1	209.059107	83	65	0.393617	1	0	0	0	0	0	0	1	0	--	--		0	A			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.A537A	74	GBM-06-0878-TP	p.A537A	G	AGGTGAGCGCGCGCGACGCGG	NM_018911	NP_061734	140222517	Q9Y5H6	PCDA8_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1611	+	A	A			Silent	537			Cadherin 5.|Extracellular (Potential).			
PCDHA8	0	broad.mit.edu	GRCh37	5	140221979	140221979	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01	TCGA-32-2491-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000531613.1:c.1073C>G	p.Pro358Arg	p.P358R	ENST00000531613	NM_018911.2	358	cCt/cGt	0			1			G	P/R	uc003lhs.2	protein_coding	YES	CCDS54919.1			1073/2853									upper_aerodigestive_tract(1)|ovary(1)	2	c.(1072-1074)CCT>CGT			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF83,Superfamily_domains:SSF49313	protocadherin alpha 8 isoform 1 precursor				ENSP00000434655		4-Jan									COSM3409832,COSM3409831	4-Jan	.		ENST00000531613	Transcript			homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	ENSG00000204962	g.chr5:140221979C>G	8674			MODERATE		1.535	low	getma.org/?cm=msa&ty=f&p=PCDA8_HUMAN&rb=355&re=446&var=P358R	NA	getma.org/?cm=var&var=hg19,5,140221979,C,G&fts=all	P358R	--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.P358R	1,1	1		probably_damaging(0.954)	p.P358R	NM_018911	NP_061734		deleterious_low_confidence(0)	1,1	PCDA8_HUMAN	PCDHA8	HGNC	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1073	+			UPI00001273D0	358			Cadherin 4.|Extracellular (Potential).		SNV	PCDHA8,missense_variant,p.Pro358Arg,ENST00000531613,NM_018911.2;PCDHA8,missense_variant,p.Pro358Arg,ENST00000378123,NM_031856.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,;	uc003lhs.2	c.1073C>G	1073/5260	4	4			c.1073C>G						5	SNP	c.(1072-1074)CCT>CGT	17	17			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	protocadherin alpha 8 isoform 1 precursor			140221979		0.502	ENSG00000204962	11338	g.chr5:140221979C>G	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding							109.44756	KEEP	25	34	-1	155	170	25	34	-1	113.45688	155	170	0.3125	1	0	0	0	0	1	0	0	0	--	--		0	G			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.P358R	235	GBM-32-2491-TP	p.P358R	C	TTATCCTTGCCTGTACGTGAA	NM_018911	NP_061734	140221979	Q9Y5H6	PCDA8_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1073	+	G	G			Missense_Mutation	358			Cadherin 4.|Extracellular (Potential).			
PCDHA9	9752	broad.mit.edu	GRCh37	5	140229589	140229589	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0132-01	TCGA-06-0132-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000532602.1:c.1509G>A	p.Ser503=	p.S503=	ENST00000532602	NM_031857.1	503	tcG/tcA	0			1			A	S	uc003lhu.2	protein_coding	YES	CCDS54920.1			1509/2853									large_intestine(2)|ovary(2)|skin(1)	5	c.(1507-1509)TCG>TCA			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF67,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin alpha 9 isoform 1 precursor				ENSP00000436042		4-Jan	8.28E-06					1.53E-05			rs782166017,COSM448796,COSM448795	4-Jan	.		ENST00000532602	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	ENSG00000204961	g.chr5:140229589G>A	8675			LOW								--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.S503S	0,1,1	1			p.S503S	NM_031857	NP_114063			0,1,1	PCDA9_HUMAN	PCDHA9	HGNC	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	2233	+			UPI00001273D1	503			Cadherin 5.|Extracellular (Potential).		SNV	PCDHA9,synonymous_variant,p.=,ENST00000378122,NM_014005.3;PCDHA9,synonymous_variant,p.=,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,;	uc003lhu.2	c.1509G>A	2542/6293	1	1			c.1509G>A						5	SNP	c.(1507-1509)TCG>TCA	50	50			large_intestine(2)|ovary(2)|skin(1)	5	Broad	protocadherin alpha 9 isoform 1 precursor			140229589		0.672	ENSG00000204961	11339	g.chr5:140229589G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	Melanoma(55;1800 1972 14909)			Melanoma(55;1800 1972 14909)			11.616608	KEEP	6	8	-1	58	64	6	8	-1	28.34753	58	64	0.114035	1	0	0	0	0	0	0	1	0	--	--		0	A			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.S503S	17	GBM-06-0132-TP	p.S503S	G	GCGAGCGCTCGCTGTCGAGCT	NM_031857	NP_114063	140229589	Q9Y5H5	PCDA9_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2233	+	A	A			Silent	503			Cadherin 5.|Extracellular (Potential).			
PCDHA9	0	broad.mit.edu	GRCh37	5	140229393	140229393	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-1439-01	TCGA-26-1439-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000532602.1:c.1313C>T	p.Thr438Met	p.T438M	ENST00000532602	NM_031857.1	438	aCg/aTg	0			1			T	T/M	uc003lhu.2	protein_coding	YES	CCDS54920.1			1313/2853									large_intestine(2)|ovary(2)|skin(1)	5	c.(1312-1314)ACG>ATG			Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF67,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin alpha 9 isoform 1 precursor				ENSP00000436042		4-Jan	8.28E-06					1.52E-05			rs782596330,COSM2156883,COSM2156882	4-Jan	.		ENST00000532602	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	ENSG00000204961	g.chr5:140229393C>T	8675			MODERATE		3.16	medium	getma.org/?cm=msa&ty=f&p=PCDA9_HUMAN&rb=355&re=446&var=T438M	NA	getma.org/?cm=var&var=hg19,5,140229393,C,T&fts=all	T438M	--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.T438M	0,1,1	1		probably_damaging(0.947)	p.T438M	NM_031857	NP_114063		deleterious_low_confidence(0.01)	0,1,1	PCDA9_HUMAN	PCDHA9	HGNC	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	2037	+			UPI00001273D1	438			Cadherin 4.|Extracellular (Potential).		SNV	PCDHA9,missense_variant,p.Thr438Met,ENST00000378122,NM_014005.3;PCDHA9,missense_variant,p.Thr438Met,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,;	uc003lhu.2	c.1313C>T	2346/6293	1	1			c.1313C>T						5	SNP	c.(1312-1314)ACG>ATG	1	1			large_intestine(2)|ovary(2)|skin(1)	5	Broad	protocadherin alpha 9 isoform 1 precursor			140229393		0.657	ENSG00000204961	11339	g.chr5:140229393C>T	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	Melanoma(55;1800 1972 14909)			Melanoma(55;1800 1972 14909)			233.529539	KEEP	57	43	-1	72	63	57	43	-1	234.301437	72	63	0.431579	1	0	0	0	0	1	0	0	0	--	--		0	T			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.T438M	179	GBM-26-1439-TP	p.T438M	C	CTGTGGGCCACGGCCAGGGTG	NM_031857	NP_114063	140229393	Q9Y5H5	PCDA9_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2037	+	T	T			Missense_Mutation	438			Cadherin 4.|Extracellular (Potential).			
PCDHA9	0	broad.mit.edu	GRCh37	5	140230084	140230084	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-1747-01	TCGA-28-1747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000532602.1:c.2004G>A	p.Ser668=	p.S668=	ENST00000532602	NM_031857.1	668	tcG/tcA	0			1			A	S	uc003lhu.2	protein_coding	YES	CCDS54920.1			2004/2853								p.S668L(1)	large_intestine(2)|ovary(2)|skin(1)	5	c.(2002-2004)TCG>TCA			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF67,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin alpha 9 isoform 1 precursor				ENSP00000436042		4-Jan									COSM1261316,COSM1261315	4-Jan	.		ENST00000532602	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	ENSG00000204961	g.chr5:140230084G>A	8675			LOW								--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.S668S	1,1	1			p.S668S	NM_031857	NP_114063			1,1	PCDA9_HUMAN	PCDHA9	HGNC	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	2728	+			UPI00001273D1	668			Cadherin 6.|Extracellular (Potential).		SNV	PCDHA9,synonymous_variant,p.=,ENST00000378122,NM_014005.3;PCDHA9,synonymous_variant,p.=,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,;	uc003lhu.2	c.2004G>A	3037/6293	2	2			c.2004G>A						5	SNP	c.(2002-2004)TCG>TCA	20	20		p.S668L(1)	large_intestine(2)|ovary(2)|skin(1)	5	Broad	protocadherin alpha 9 isoform 1 precursor			140230084		0.677	ENSG00000204961	11339	g.chr5:140230084G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	Melanoma(55;1800 1972 14909)			Melanoma(55;1800 1972 14909)			48.895596	KEEP	22	14	-1	26	42	22	14	-1	50.303074	26	42	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	A			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.S668S	206	GBM-28-1747-TP	p.S668S	G	TGCTGGTGTCGCTGGTGGAGA	NM_031857	NP_114063	140230084	Q9Y5H5	PCDA9_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2728	+	A	A			Silent	668			Cadherin 6.|Extracellular (Potential).			
PCDHAC1	56135	broad.mit.edu	GRCh37	5	140307832	140307832	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0237-01	TCGA-06-0237-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000253807.2:c.1355T>C	p.Leu452Pro	p.L452P	ENST00000253807	NM_018898.3	452	cTt/cCt	0			1			C	L/P	uc003lih.2	protein_coding	YES	CCDS4241.1			1355/2892									skin(3)|ovary(2)	5	c.(1354-1356)CTT>CCT			Gene3D:2.60.40.60,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF112,Superfamily_domains:SSF49313	protocadherin alpha subfamily C, 1 isoform 1				ENSP00000253807		4-Jan									COSM2151049	4-Jan	.		ENST00000253807	Transcript			homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	ENSG00000248383	g.chr5:140307832T>C	8676			MODERATE		2.13	medium	getma.org/?cm=msa&ty=f&p=PCDC1_HUMAN&rb=450&re=546&var=L452P	getma.org/pdb.php?prot=PCDC1_HUMAN&from=450&to=546&var=L452P	getma.org/?cm=var&var=hg19,5,140307832,T,C&fts=all	L452P	--	--	1																																		PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.L452P	1	1		possibly_damaging(0.758)	p.L452P	NM_018898	NP_061721		deleterious(0)	1	PCDC1_HUMAN	PCDHAC1	HGNC	Q9H158	PCDC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1531	+			UPI000013CDF7	452			Extracellular (Potential).|Cadherin 5.		SNV	PCDHAC1,missense_variant,p.Leu452Pro,ENST00000253807,NM_018898.3;PCDHAC1,missense_variant,p.Leu452Pro,ENST00000409700,NM_031882.2;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA13,intron_variant,,ENST00000289272,NM_018904.2,NM_031865.1;PCDHA11,intron_variant,,ENST00000398640,NM_018902.3;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA10,intron_variant,,ENST00000307360,NM_018901.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.2;PCDHA12,intron_variant,,ENST00000398631,NM_018903.2,NM_031864.2;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA13,intron_variant,,ENST00000409494,NM_031865.1;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA10,intron_variant,,ENST00000506939,NM_031860.1;PCDHA6,intron_variant,,ENST00000527624,;	uc003lih.2	c.1355T>C	1355/5299	3	3			c.1355T>C						5	SNP	c.(1354-1356)CTT>CCT	50	50			skin(3)|ovary(2)	5	Broad	protocadherin alpha subfamily C, 1 isoform 1			140307832		0.527	ENSG00000248383	11340	g.chr5:140307832T>C	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding							346.888746	KEEP	52	53	-1	58	49	52	53	-1	346.889769	58	49	0.497326	1	0	0	0	0	1	0	0	0	--	--		0	C			PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.L452P	54	GBM-06-0237-TP	p.L452P	T	CAGCAGGAACTTTTCGTTGCT	NM_018898	NP_061721	140307832	Q9H158	PCDC1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1531	+	C	C			Missense_Mutation	452			Extracellular (Potential).|Cadherin 5.			
PCDHAC1	56135		GRCh37	5	140307515	140307515	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000253807.2:c.1038G>A	p.Ser346=	p.S346=	ENST00000253807	NM_018898.3	346	tcG/tcA	0																																																																																																																																																																																																																																												
PCDHB1	0	broad.mit.edu	GRCh37	5	140432384	140432384	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-4210-01	TCGA-32-4210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306549.3:c.1329C>T	p.Ser443=	p.S443=	ENST00000306549	NM_013340.2	443	tcC/tcT	0			1			T	S	uc003lik.1	protein_coding	YES	CCDS4243.1			1329/2457										0	c.(1327-1329)TCC>TCT			Gene3D:2.60.40.60,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF88,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313	protocadherin beta 1 precursor				ENSP00000307234		1-Jan									COSM3241841	1-Jan	.		ENST00000306549	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000171815	g.chr5:140432384C>T	8680			LOW								--	--	1																																			1	1			p.S443S	NM_013340	NP_037472			1	PCDB1_HUMAN	PCDHB1	HGNC	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)				1	1406	+			UPI000013EB56	443			Cadherin 4.|Extracellular (Potential).		SNV	PCDHB1,synonymous_variant,p.=,ENST00000306549,NM_013340.2;	uc003lik.1	c.1329C>T	1406/2534	1	1			c.1329C>T						5	SNP	c.(1327-1329)TCC>TCT	4	4				0	Broad	protocadherin beta 1 precursor			140432384		0.448	ENSG00000171815	11342	g.chr5:140432384C>T	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							382.295248	KEEP	58	86	-1	66	72	58	86	-1	382.295248	66	72	0.5	1	0	0	0	0	0	0	1	0	--	--		0	T				245	GBM-32-4210-TP	p.S443S	C	TGCTAATATCCGACGTTAATG	NM_013340	NP_037472	140432384	Q9Y5F3	PCDB1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1406	+	T	T			Silent	443			Cadherin 4.|Extracellular (Potential).			
PCDHB10	0	broad.mit.edu	GRCh37	5	140573541	140573541	+	synonymous_variant	Silent	SNP	C	C	T	rs17844565	byFrequency	TCGA-76-6193-01	TCGA-76-6193-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000239446.4:c.1416C>T	p.Ser472=	p.S472=	ENST00000239446	NM_018930.3	472	agC/agT	0	T:0.0098	T:0.0144	1	T:0.0014		T	S	uc003lix.2	protein_coding	YES	CCDS4252.1			1416/2403									ovary(1)|skin(1)	2	c.(1414-1416)AGC>AGT			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF54,Superfamily_domains:SSF49313	protocadherin beta 10 precursor		T:0	T:0.0002	ENSP00000239446	T:0	1-Jan	0.00127	0.0107	0.00173	0.000929		0.000244	0.00332	6.06E-05	rs17844565,COSM1130880	1-Jan	common_variant		ENST00000239446	Transcript		T:0.0040	calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	ENSG00000120324	g.chr5:140573541C>T	8681			LOW								--	--	1																																			0,1	1			p.S472S	NM_018930	NP_061753	T:0		0,1	PCDBA_HUMAN	PCDHB10	HGNC	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		O95883_HUMAN		1	1590	+			UPI0000048F2E	472			Cadherin 5.|Extracellular (Potential).		SNV	PCDHB10,synonymous_variant,p.=,ENST00000239446,NM_018930.3;PCDHB9,downstream_gene_variant,,ENST00000316105,;	uc003lix.2	c.1416C>T	1600/3274	1	1			c.1416C>T						5	SNP	c.(1414-1416)AGC>AGT	2	2			ovary(1)|skin(1)	2	Broad	protocadherin beta 10 precursor			140573541		0.662	ENSG00000120324	11343	g.chr5:140573541C>T	calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							-4.334008	KEEP	5	2	-1	65	71	5	2	-1	10.218753	65	71	0.066667	1	0	0	0	0	0	0	1	0	--	--		0	T				276	GBM-76-6193-TP	p.S472S	C	ACATCGGCAGCGTCAGCGCCA	NM_018930	NP_061753	140573541	Q9UN67	PCDBA_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1590	+	T	T			Silent	472			Cadherin 5.|Extracellular (Potential).			
PCDHB11	56125	broad.mit.edu	GRCh37	5	140580521	140580521	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354757.3:c.1174G>A	p.Val392Met	p.V392M	ENST00000354757	NM_018931.2	392	Gtg/Atg	0			1			A	V/M	uc003liy.2	protein_coding	YES	CCDS4253.1			1174/2394									skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6	c.(1174-1176)GTG>ATG			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF91,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin beta 11 precursor				ENSP00000346802		1-Jan									COSM172134	1-Jan	.		ENST00000354757	Transcript			calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	ENSG00000197479	g.chr5:140580521G>A	8682			MODERATE		1.68	low	getma.org/?cm=msa&ty=f&p=PCDBB_HUMAN&rb=352&re=442&var=V392M	NA	getma.org/?cm=var&var=hg19,5,140580521,G,A&fts=all	V392M	--	--	1																																		PCDHB11_uc011daj.1_Missense_Mutation_p.V27M	1	1		benign(0.16)	p.V392M	NM_018931	NP_061754		tolerated_low_confidence(0.07)	1	PCDBB_HUMAN	PCDHB11	HGNC	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		B4DSF7_HUMAN		1	1174	+			UPI00001273E6	392			Extracellular (Potential).|Cadherin 4.		SNV	PCDHB11,missense_variant,p.Val392Met,ENST00000354757,NM_018931.2;PCDHB11,missense_variant,p.Val27Met,ENST00000536699,;	uc003liy.2	c.1174G>A	1174/3271	2	2			c.1174G>A						5	SNP	c.(1174-1176)GTG>ATG	17	17			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6	Broad	protocadherin beta 11 precursor			140580521		0.453	ENSG00000197479	11344	g.chr5:140580521G>A	calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding							183.51452	KEEP	34	42	-1	84	85	34	42	-1	190.943181	84	85	0.306306	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDHB11_uc011daj.1_Missense_Mutation_p.V27M	58	GBM-06-0644-TP	p.V392M	G	CCTCCCATTCGTGCTAAAATC	NM_018931	NP_061754	140580521	Q9Y5F2	PCDBB_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1174	+	A	A			Missense_Mutation	392			Extracellular (Potential).|Cadherin 4.			
PCDHB12	56124	broad.mit.edu	GRCh37	5	140590224	140590224	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0154-01	TCGA-06-0154-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000239450.2:c.1745C>T	p.Pro582Leu	p.P582L	ENST00000239450	NM_018932.3	582	cCg/cTg	0			1			T	P/L	uc003liz.2	protein_coding	YES	CCDS4254.1			1745/2388									skin(2)|ovary(1)	3	c.(1744-1746)CCG>CTG			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF59,Superfamily_domains:SSF49313	protocadherin beta 12 precursor				ENSP00000239450		1-Jan									COSM2149927	1-Jan	.		ENST00000239450	Transcript			homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	ENSG00000120328	g.chr5:140590224C>T	8683			MODERATE		2.035	medium	getma.org/?cm=msa&ty=f&p=PCDBC_HUMAN&rb=576&re=663&var=P582L	getma.org/pdb.php?prot=PCDBC_HUMAN&from=576&to=663&var=P582L	getma.org/?cm=var&var=hg19,5,140590224,C,T&fts=all	P582L	--	--	1																																		PCDHB12_uc011dak.1_Missense_Mutation_p.P245L	1	1		benign(0.087)	p.P582L	NM_018932	NP_061755		deleterious_low_confidence(0)	1	PCDBC_HUMAN	PCDHB12	HGNC	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		B4DDU1_HUMAN		1	1934	+			UPI000000DAFD	582			Extracellular (Potential).|Cadherin 6.		SNV	PCDHB12,missense_variant,p.Pro582Leu,ENST00000239450,NM_018932.3;PCDHB12,missense_variant,p.Pro245Leu,ENST00000541609,;PCDHB13,upstream_gene_variant,,ENST00000341948,NM_018933.2;	uc003liz.2	c.1745C>T	1934/3406	2	2			c.1745C>T						5	SNP	c.(1744-1746)CCG>CTG	36	36			skin(2)|ovary(1)	3	Broad	protocadherin beta 12 precursor			140590224		0.692	ENSG00000120328	11345	g.chr5:140590224C>T	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding							152.137747	KEEP	26	38	-1	114	95	26	38	-1	159.224039	114	95	0.291209	1	0	0	0	0	1	0	0	0	--	--		0	T			PCDHB12_uc011dak.1_Missense_Mutation_p.P245L	26	GBM-06-0154-TP	p.P582L	C	GCGGCCGAGCCGGGCTACCTG	NM_018932	NP_061755	140590224	Q9Y5F1	PCDBC_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1934	+	T	T			Missense_Mutation	582			Extracellular (Potential).|Cadherin 6.			
PCDHB12	0	broad.mit.edu	GRCh37	5	140589502	140589502	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-2518-01	TCGA-27-2518-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000239450.2:c.1023C>T	p.Asn341=	p.N341=	ENST00000239450	NM_018932.3	341	aaC/aaT	0			1			T	N	uc003liz.2	protein_coding	YES	CCDS4254.1			1023/2388									skin(2)|ovary(1)	3	c.(1021-1023)AAC>AAT			Gene3D:2.60.40.60,Prints_domain:PR00205,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF59,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313	protocadherin beta 12 precursor				ENSP00000239450		1-Jan	1.65E-05					1.50E-05		6.06E-05	rs782673787,COSM1062790	1-Jan	.		ENST00000239450	Transcript			homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	ENSG00000120328	g.chr5:140589502C>T	8683			LOW								--	--	1																																		PCDHB12_uc011dak.1_Silent_p.N4N	0,1	1			p.N341N	NM_018932	NP_061755			0,1	PCDBC_HUMAN	PCDHB12	HGNC	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		B4DDU1_HUMAN		1	1212	+			UPI000000DAFD	341			Extracellular (Potential).|Cadherin 3.		SNV	PCDHB12,synonymous_variant,p.=,ENST00000239450,NM_018932.3;PCDHB12,synonymous_variant,p.=,ENST00000541609,;PCDHB13,upstream_gene_variant,,ENST00000341948,NM_018933.2;	uc003liz.2	c.1023C>T	1212/3406	2	2			c.1023C>T						5	SNP	c.(1021-1023)AAC>AAT	21	21			skin(2)|ovary(1)	3	Broad	protocadherin beta 12 precursor			140589502		0.413	ENSG00000120328	11345	g.chr5:140589502C>T	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding							148.131737	KEEP	23	37	-1	58	44	23	37	-1	150.278723	58	44	0.366906	1	0	0	0	0	0	0	1	0	--	--		0	T			PCDHB12_uc011dak.1_Silent_p.N4N	198	GBM-27-2518-TP	p.N341N	C	TGGATGTAAACGACAACGCTC	NM_018932	NP_061755	140589502	Q9Y5F1	PCDBC_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1212	+	T	T			Silent	341			Extracellular (Potential).|Cadherin 3.			
PCDHB12	0	broad.mit.edu	GRCh37	5	140590288	140590288	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5208-01	TCGA-28-5208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000239450.2:c.1809G>A	p.Ser603=	p.S603=	ENST00000239450	NM_018932.3	603	tcG/tcA	0			1			A	S	uc003liz.2	protein_coding	YES	CCDS4254.1			1809/2388									skin(2)|ovary(1)	3	c.(1807-1809)TCG>TCA			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF59,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin beta 12 precursor				ENSP00000239450		1-Jan									COSM3409879	1-Jan	.		ENST00000239450	Transcript			homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	ENSG00000120328	g.chr5:140590288G>A	8683			LOW								--	--	1																																		PCDHB12_uc011dak.1_Silent_p.S266S	1	1			p.S603S	NM_018932	NP_061755			1	PCDBC_HUMAN	PCDHB12	HGNC	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		B4DDU1_HUMAN		1	1998	+			UPI000000DAFD	603			Extracellular (Potential).|Cadherin 6.		SNV	PCDHB12,synonymous_variant,p.=,ENST00000239450,NM_018932.3;PCDHB12,synonymous_variant,p.=,ENST00000541609,;PCDHB13,upstream_gene_variant,,ENST00000341948,NM_018933.2;	uc003liz.2	c.1809G>A	1998/3406	2	2			c.1809G>A						5	SNP	c.(1807-1809)TCG>TCA	34	34			skin(2)|ovary(1)	3	Broad	protocadherin beta 12 precursor			140590288		0.721	ENSG00000120328	11345	g.chr5:140590288G>A	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding							-10.823987	KEEP	18	15	-1	155	208	18	15	-1	36.842768	155	208	0.076923	1	0	0	0	0	0	0	1	0	--	--		0	A			PCDHB12_uc011dak.1_Silent_p.S266S	217	GBM-28-5208-TP	p.S603S	G	CCTGGCTGTCGTACCAGCTGC	NM_018932	NP_061755	140590288	Q9Y5F1	PCDBC_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1998	+	A	A			Silent	603			Extracellular (Potential).|Cadherin 6.			
PCDHB12	0	broad.mit.edu	GRCh37	5	140588488	140588488	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-3915-01	TCGA-41-3915-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000239450.2:c.9C>T	p.Asn3=	p.N3=	ENST00000239450	NM_018932.3	3	aaC/aaT	0			1			T	N	uc003liz.2	protein_coding	YES	CCDS4254.1			Sep-88									skin(2)|ovary(1)	3	c.(7-9)AAC>AAT			hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF59,Cleavage_site_(Signalp):SignalP-noTM	protocadherin beta 12 precursor				ENSP00000239450		1-Jan									COSM3409876	1-Jan	.		ENST00000239450	Transcript			homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	ENSG00000120328	g.chr5:140588488C>T	8683			LOW								--	--	1																																		PCDHB12_uc011dak.1_Translation_Start_Site	1	1			p.N3N	NM_018932	NP_061755			1	PCDBC_HUMAN	PCDHB12	HGNC	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		B4DDU1_HUMAN		1	198	+			UPI000000DAFD	3					SNV	PCDHB12,synonymous_variant,p.=,ENST00000239450,NM_018932.3;PCDHB12,5_prime_UTR_variant,,ENST00000541609,;	uc003liz.2	c.9C>T	198/3406	1	1			c.9C>T						5	SNP	c.(7-9)AAC>AAT	11	11			skin(2)|ovary(1)	3	Broad	protocadherin beta 12 precursor			140588488		0.493	ENSG00000120328	11345	g.chr5:140588488C>T	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding							47.163329	KEEP	11	18	-1	63	60	11	18	-1	58.865329	63	60	0.184	1	0	0	0	0	0	0	1	0	--	--		0	T			PCDHB12_uc011dak.1_Translation_Start_Site	256	GBM-41-3915-TP	p.N3N	C	CTATGGAAAACGGAGGGGCAG	NM_018932	NP_061755	140588488	Q9Y5F1	PCDBC_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	198	+	T	T			Silent	3						
PCDHB12	0	broad.mit.edu	GRCh37	5	140590123	140590123	+	synonymous_variant	Silent	SNP	C	C	T	rs147374257		TCGA-76-4931-01	TCGA-76-4931-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000239450.2:c.1644C>T	p.Arg548=	p.R548=	ENST00000239450	NM_018932.3	548	cgC/cgT	0	A:0.0007	A:0	1	A:0.0014		T	R	uc003liz.2	protein_coding	YES	CCDS4254.1			1644/2388									skin(2)|ovary(1)	3	c.(1642-1644)CGC>CGT			Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF59,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin beta 12 precursor		A:0	A:0.0005	ENSP00000239450	A:0.001	1-Jan	1.65E-05	0.000209							rs147374257,COSM3409878	1-Jan	.		ENST00000239450	Transcript		A:0.0004	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	ENSG00000120328	g.chr5:140590123C>T	8683			LOW								--	--	1																																		PCDHB12_uc011dak.1_Silent_p.R211R	0,1	1			p.R548R	NM_018932	NP_061755	A:0		0,1	PCDBC_HUMAN	PCDHB12	HGNC	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		B4DDU1_HUMAN		1	1833	+			UPI000000DAFD	548			Extracellular (Potential).|Cadherin 5.		SNV	PCDHB12,synonymous_variant,p.=,ENST00000239450,NM_018932.3;PCDHB12,synonymous_variant,p.=,ENST00000541609,;PCDHB13,upstream_gene_variant,,ENST00000341948,NM_018933.2;	uc003liz.2	c.1644C>T	1833/3406	2	2			c.1644C>T						5	SNP	c.(1642-1644)CGC>CGT	33	33			skin(2)|ovary(1)	3	Broad	protocadherin beta 12 precursor			140590123		0.711	ENSG00000120328	11345	g.chr5:140590123C>T	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding							76.748791	KEEP	18	20	-1	40	46	18	20	-1	78.764399	40	46	0.337209	1	0	0	0	0	0	0	1	0	--	--		0	T			PCDHB12_uc011dak.1_Silent_p.R211R	270	GBM-76-4931-TP	p.R548R	C	CGCTGGTGCGCGTGCTGGTGC	NM_018932	NP_061755	140590123	Q9Y5F1	PCDBC_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1833	+	T	T			Silent	548			Extracellular (Potential).|Cadherin 5.			
PCDHB12	56124		GRCh37	5	140590067	140590067	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000239450.2:c.1588C>T	p.Arg530Cys	p.R530C	ENST00000239450	NM_018932.3	530	Cgc/Tgc	0																																																																																																																																																																																																																																												
PCDHB13	56123	broad.mit.edu	GRCh37	5	140595338	140595338	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01	TCGA-06-0168-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341948.4:c.1643G>A	p.Arg548His	p.R548H	ENST00000341948	NM_018933.2	548	cGc/cAc	0			1			A	R/H	uc003lja.1	protein_coding	YES	CCDS4255.1			1643/2397									skin(2)|ovary(1)	3	c.(1642-1644)CGC>CAC			Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF61,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin beta 13 precursor				ENSP00000345491		1-Jan									COSM2150245	1-Jan	.		ENST00000341948	Transcript			calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	ENSG00000187372	g.chr5:140595338G>A	8684			MODERATE		0.74	neutral	getma.org/?cm=msa&ty=f&p=PCDBD_HUMAN&rb=456&re=552&var=R548H	getma.org/pdb.php?prot=PCDBD_HUMAN&from=456&to=552&var=R548H	getma.org/?cm=var&var=hg19,5,140595338,G,A&fts=all	R548H	--	--	1																																			1	1		benign(0.058)	p.R548H	NM_018933	NP_061756		deleterious_low_confidence(0.03)	1	PCDBD_HUMAN	PCDHB13	HGNC	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)				1	1830	+			UPI0000047816	548			Extracellular (Potential).|Cadherin 5.		SNV	PCDHB13,missense_variant,p.Arg548His,ENST00000341948,NM_018933.2;PCDHB12,downstream_gene_variant,,ENST00000239450,NM_018932.3;PCDHB12,downstream_gene_variant,,ENST00000541609,;	uc003lja.1	c.1643G>A	1830/3485	2	2			c.1643G>A						5	SNP	c.(1642-1644)CGC>CAC	23	23			skin(2)|ovary(1)	3	Broad	protocadherin beta 13 precursor			140595338		0.716	ENSG00000187372	11346	g.chr5:140595338G>A	calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							68.636213	KEEP	14	15	-1	22	21	14	15	-1	69.150103	22	21	0.403226	1	0	0	0	0	1	0	0	0	--	--		0	A				33	GBM-06-0168-TP	p.R548H	G	GCGCTGGTGCGCGTGGTGGTG	NM_018933	NP_061756	140595338	Q9Y5F0	PCDBD_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1830	+	A	A			Missense_Mutation	548			Extracellular (Potential).|Cadherin 5.			
PCDHB13	56123	broad.mit.edu	GRCh37	5	140595599	140595599	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0745-01	TCGA-06-0745-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341948.4:c.1904C>T	p.Ala635Val	p.A635V	ENST00000341948	NM_018933.2	635	gCg/gTg	0			1			T	A/V	uc003lja.1	protein_coding	YES	CCDS4255.1			1904/2397									skin(2)|ovary(1)	3	c.(1903-1905)GCG>GTG			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF61,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin beta 13 precursor				ENSP00000345491		1-Jan									COSM2151699	1-Jan	.		ENST00000341948	Transcript			calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	ENSG00000187372	g.chr5:140595599C>T	8684			MODERATE		0.87	low	getma.org/?cm=msa&ty=f&p=PCDBD_HUMAN&rb=575&re=663&var=A635V	getma.org/pdb.php?prot=PCDBD_HUMAN&from=575&to=663&var=A635V	getma.org/?cm=var&var=hg19,5,140595599,C,T&fts=all	A635V	--	--	1																																			1	1		benign(0.134)	p.A635V	NM_018933	NP_061756		tolerated_low_confidence(0.09)	1	PCDBD_HUMAN	PCDHB13	HGNC	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)				1	2091	+			UPI0000047816	635			Cadherin 6.|Extracellular (Potential).		SNV	PCDHB13,missense_variant,p.Ala635Val,ENST00000341948,NM_018933.2;PCDHB12,downstream_gene_variant,,ENST00000239450,NM_018932.3;PCDHB12,downstream_gene_variant,,ENST00000541609,;	uc003lja.1	c.1904C>T	2091/3485	2	2			c.1904C>T						5	SNP	c.(1903-1905)GCG>GTG	35	35			skin(2)|ovary(1)	3	Broad	protocadherin beta 13 precursor			140595599		0.692	ENSG00000187372	11346	g.chr5:140595599C>T	calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							84.559537	KEEP	32	27	-1	113	102	32	27	-1	86.445411	113	102	0.347826	1	0	0	0	0	1	0	0	0	--	--		0	T				67	GBM-06-0745-TP	p.A635V	C	GAGCGCGACGCGGCCAAGCAC	NM_018933	NP_061756	140595599	Q9Y5F0	PCDBD_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2091	+	T	T			Missense_Mutation	635			Cadherin 6.|Extracellular (Potential).			
PCDHB13	56123	broad.mit.edu	GRCh37	5	140594357	140594357	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0879-01	TCGA-06-0879-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341948.4:c.662C>T	p.Pro221Leu	p.P221L	ENST00000341948	NM_018933.2	221	cCg/cTg	0			1			T	P/L	uc003lja.1	protein_coding	YES	CCDS4255.1			662/2397								p.P221L(1)	skin(2)|ovary(1)	3	c.(661-663)CCG>CTG			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF61,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin beta 13 precursor				ENSP00000345491		1-Jan									COSM72096	1-Jan	.		ENST00000341948	Transcript			calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	ENSG00000187372	g.chr5:140594357C>T	8684			MODERATE		3.75	high	getma.org/?cm=msa&ty=f&p=PCDBD_HUMAN&rb=139&re=234&var=P221L	getma.org/pdb.php?prot=PCDBD_HUMAN&from=139&to=234&var=P221L	getma.org/?cm=var&var=hg19,5,140594357,C,T&fts=all	P221L	--	--	1																																			1	1		possibly_damaging(0.787)	p.P221L	NM_018933	NP_061756		deleterious_low_confidence(0.02)	1	PCDBD_HUMAN	PCDHB13	HGNC	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)				1	849	+			UPI0000047816	221			Cadherin 2.|Extracellular (Potential).		SNV	PCDHB13,missense_variant,p.Pro221Leu,ENST00000341948,NM_018933.2;PCDHB12,downstream_gene_variant,,ENST00000239450,NM_018932.3;PCDHB12,downstream_gene_variant,,ENST00000541609,;	uc003lja.1	c.662C>T	849/3485	2	2			c.662C>T						5	SNP	c.(661-663)CCG>CTG	32	32		p.P221L(1)	skin(2)|ovary(1)	3	Broad	protocadherin beta 13 precursor			140594357		0.532	ENSG00000187372	11346	g.chr5:140594357C>T	calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							27.682169	KEEP	21	14	-1	103	117	21	14	-1	56.398518	103	117	0.116162	1	0	0	0	0	1	0	0	0	--	--		0	T				75	GBM-06-0879-TP	p.P221L	C	GGTGGCTCTCCGCCCAGATCT	NM_018933	NP_061756	140594357	Q9Y5F0	PCDBD_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	849	+	T	T			Missense_Mutation	221			Cadherin 2.|Extracellular (Potential).			
PCDHB13	0	broad.mit.edu	GRCh37	5	140594357	140594357	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01	TCGA-27-2524-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341948.4:c.662C>T	p.Pro221Leu	p.P221L	ENST00000341948	NM_018933.2	221	cCg/cTg	0			1			T	P/L	uc003lja.1	protein_coding	YES	CCDS4255.1			662/2397								p.P221L(1)	skin(2)|ovary(1)	3	c.(661-663)CCG>CTG			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF61,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin beta 13 precursor				ENSP00000345491		1-Jan									COSM72096	1-Jan	.		ENST00000341948	Transcript			calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	ENSG00000187372	g.chr5:140594357C>T	8684			MODERATE		3.75	high	getma.org/?cm=msa&ty=f&p=PCDBD_HUMAN&rb=139&re=234&var=P221L	getma.org/pdb.php?prot=PCDBD_HUMAN&from=139&to=234&var=P221L	getma.org/?cm=var&var=hg19,5,140594357,C,T&fts=all	P221L	--	--	1																																			1	1		possibly_damaging(0.787)	p.P221L	NM_018933	NP_061756		deleterious_low_confidence(0.02)	1	PCDBD_HUMAN	PCDHB13	HGNC	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)				1	849	+			UPI0000047816	221			Cadherin 2.|Extracellular (Potential).		SNV	PCDHB13,missense_variant,p.Pro221Leu,ENST00000341948,NM_018933.2;PCDHB12,downstream_gene_variant,,ENST00000239450,NM_018932.3;PCDHB12,downstream_gene_variant,,ENST00000541609,;	uc003lja.1	c.662C>T	849/3485	2	2			c.662C>T						5	SNP	c.(661-663)CCG>CTG	32	32		p.P221L(1)	skin(2)|ovary(1)	3	Broad	protocadherin beta 13 precursor			140594357		0.532	ENSG00000187372	11346	g.chr5:140594357C>T	calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							-26.725537	KEEP	1	6	-1	90	113	1	6	-1	13.756371	90	113	0.039548	1	0	0	0	0	1	0	0	0	--	--		0	T				202	GBM-27-2524-TP	p.P221L	C	GGTGGCTCTCCGCCCAGATCT	NM_018933	NP_061756	140594357	Q9Y5F0	PCDBD_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	849	+	T	T			Missense_Mutation	221			Cadherin 2.|Extracellular (Potential).			
PCDHB14	56122	broad.mit.edu	GRCh37	5	140604583	140604583	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-0141-01	TCGA-06-0141-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000239449.4:c.1506C>A	p.Ser502=	p.S502=	ENST00000239449	NM_018934.2	502	tcC/tcA	0			1			A	S	uc003ljb.2	protein_coding	YES	CCDS4256.1			1506/2397									ovary(1)	1	c.(1504-1506)TCC>TCA			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF81,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin beta 14 precursor				ENSP00000239449		1-Jan									COSM3409880	1-Jan	.		ENST00000239449	Transcript			calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	ENSG00000120327	g.chr5:140604583C>A	8685			LOW								--	--	1																																		PCDHB14_uc011dal.1_Silent_p.S349S	1	1			p.S502S	NM_018934	NP_061757			1	PCDBE_HUMAN	PCDHB14	HGNC	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		B4DPE2_HUMAN		1	1506	+			UPI00001273E7	502			Extracellular (Potential).|Cadherin 5.		SNV	PCDHB14,synonymous_variant,p.=,ENST00000239449,NM_018934.2;PCDHB14,synonymous_variant,p.=,ENST00000515856,;	uc003ljb.2	c.1506C>A	1506/2781	1	1			c.1506C>A						5	SNP	c.(1504-1506)TCC>TCA	60	60			ovary(1)	1	Broad	protocadherin beta 14 precursor			140604583		0.647	ENSG00000120327	11347	g.chr5:140604583C>A	calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	Ovarian(141;50 1831 27899 33809 37648)			Ovarian(141;50 1831 27899 33809 37648)			3.612297	KEEP	11	12	0.52173913	107	120	11	12	0.52173913	37.522092	107	120	0.086735	1	0	0	0	0	0	0	1	0	--	--		0	A			PCDHB14_uc011dal.1_Silent_p.S349S	21	GBM-06-0141-TP	p.S502S	C	CCCTCGCCTCCTTGGTCTCCA	NM_018934	NP_061757	140604583	Q9Y5E9	PCDBE_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1506	+	A	A			Silent	502			Extracellular (Potential).|Cadherin 5.			
PCDHB14	0	broad.mit.edu	GRCh37	5	140605446	140605446	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01	TCGA-19-5955-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000239449.4:c.2369G>A	p.Arg790Gln	p.R790Q	ENST00000239449	NM_018934.2	790	cGa/cAa	0			1			A	R/Q	uc003ljb.2	protein_coding	YES	CCDS4256.1			2369/2397									ovary(1)	1	c.(2368-2370)CGA>CAA			hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF81	protocadherin beta 14 precursor				ENSP00000239449		1-Jan									COSM1062841	1-Jan	.		ENST00000239449	Transcript			calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	ENSG00000120327	g.chr5:140605446G>A	8685			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=PCDBE_HUMAN&rb=664&re=798&var=R790Q	NA	getma.org/?cm=var&var=hg19,5,140605446,G,A&fts=all	R790Q	--	--	1																																		PCDHB14_uc011dal.1_Missense_Mutation_p.R637Q	1	1		benign(0.002)	p.R790Q	NM_018934	NP_061757		tolerated_low_confidence(0.23)	1	PCDBE_HUMAN	PCDHB14	HGNC	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		B4DPE2_HUMAN		1	2369	+			UPI00001273E7	790			Cytoplasmic (Potential).		SNV	PCDHB14,missense_variant,p.Arg790Gln,ENST00000239449,NM_018934.2;PCDHB14,missense_variant,p.Arg637Gln,ENST00000515856,;	uc003ljb.2	c.2369G>A	2369/2781	2	2			c.2369G>A						5	SNP	c.(2368-2370)CGA>CAA	17	17			ovary(1)	1	Broad	protocadherin beta 14 precursor			140605446		0.348	ENSG00000120327	11347	g.chr5:140605446G>A	calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	Ovarian(141;50 1831 27899 33809 37648)			Ovarian(141;50 1831 27899 33809 37648)			30.289037	KEEP	5	10	-1	38	49	5	10	-1	40.869605	38	49	0.157895	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDHB14_uc011dal.1_Missense_Mutation_p.R637Q	175	GBM-19-5955-TP	p.R790Q	G	GAGAACTTTCGAAATAGCTTT	NM_018934	NP_061757	140605446	Q9Y5E9	PCDBE_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2369	+	A	A			Missense_Mutation	790			Cytoplasmic (Potential).			
PCDHB14	56122		GRCh37	5	140605384	140605384	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000239449.4:c.2307G>A	p.Pro769=	p.P769=	ENST00000239449	NM_018934.2	769	ccG/ccA	0																																																																																																																																																																																																																																												
PCDHB15	0	broad.mit.edu	GRCh37	5	140626805	140626805	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-1837-01	TCGA-27-1837-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000231173.3:c.1659C>T	p.Asp553=	p.D553=	ENST00000231173	NM_018935.2	553	gaC/gaT	0			1			T	D	uc003lje.2	protein_coding	YES	CCDS4257.1			1659/2364									ovary(2)|breast(2)|skin(1)	5	c.(1657-1659)GAC>GAT			Gene3D:2.60.40.60,Prints_domain:PR00205,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF97,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin beta 15 precursor				ENSP00000231173		1-Jan									COSM1062872	1-Jan	.		ENST00000231173	Transcript			homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	ENSG00000113248	g.chr5:140626805C>T	8686			LOW								--	--	1																																			1	1			p.D553D	NM_018935	NP_061758			1	PCDBF_HUMAN	PCDHB15	HGNC	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)				1	1659	+			UPI00001273E8	553			Extracellular (Potential).|Cadherin 5.		SNV	PCDHB15,synonymous_variant,p.=,ENST00000231173,NM_018935.2;PCDHB19P,downstream_gene_variant,,ENST00000570871,;	uc003lje.2	c.1659C>T	1659/2653	1	1			c.1659C>T						5	SNP	c.(1657-1659)GAC>GAT	15	15			ovary(2)|breast(2)|skin(1)	5	Broad	protocadherin beta 15 precursor			140626805		0.711	ENSG00000113248	11348	g.chr5:140626805C>T	homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding							65.663325	KEEP	8	19	-1	23	33	8	19	-1	66.074634	23	33	0.412698	1	0	0	0	0	0	0	1	0	--	--		0	T				196	GBM-27-1837-TP	p.D553D	C	TGGTGCTGGACGCCAACGACA	NM_018935	NP_061758	140626805	Q9Y5E8	PCDBF_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1659	+	T	T			Silent	553			Extracellular (Potential).|Cadherin 5.			
PCDHB15	56121		GRCh37	5	140627258	140627258	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000231173.3:c.2112G>A	p.Ser704=	p.S704=	ENST00000231173	NM_018935.2	704	tcG/tcA	0																																																																																																																																																																																																																																												
PCDHB16	0	broad.mit.edu	GRCh37	5	140564331	140564331	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01	TCGA-14-1395-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361016.2:c.2197C>T	p.Pro733Ser	p.P733S	ENST00000361016	NM_020957.1	733	Cca/Tca	0			1			T	P/S	uc003liv.2	protein_coding	YES	CCDS4251.1			2197/2331									ovary(1)|pancreas(1)	2	c.(2197-2199)CCA>TCA			hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF71	protocadherin beta 16 precursor				ENSP00000354293		1-Jan									COSM3242764	1-Jan	.		ENST00000361016	Transcript			calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	ENSG00000196963	g.chr5:140564331C>T	14546			MODERATE		2.54	medium	getma.org/?cm=msa&ty=f&p=PCDBG_HUMAN&rb=664&re=776&var=P733S	NA	getma.org/?cm=var&var=hg19,5,140564331,C,T&fts=all	P733S	--	--	1																																		PCDHB9_uc003liw.1_5'Flank	1	1		benign(0.046)	p.P733S	NM_020957	NP_066008		tolerated_low_confidence(0.06)	1	PCDBG_HUMAN	PCDHB16	HGNC	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)				1	3352	+			UPI000006D372	733			Cytoplasmic (Potential).		SNV	PCDHB16,missense_variant,p.Pro733Ser,ENST00000361016,NM_020957.1;PCDHB8,downstream_gene_variant,,ENST00000239444,NM_019120.3;PCDHB9,upstream_gene_variant,,ENST00000316105,;	uc003liv.2	c.2197C>T	3352/4814	2	2			c.2197C>T						5	SNP	c.(2197-2199)CCA>TCA	24	24			ovary(1)|pancreas(1)	2	Broad	protocadherin beta 16 precursor			140564331		0.627	ENSG00000196963	11349	g.chr5:140564331C>T	calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							254.843869	KEEP	44	48	-1	49	54	44	48	-1	255.136898	49	54	0.456522	1	0	0	0	0	1	0	0	0	--	--		0	T			PCDHB9_uc003liw.1_5'Flank	144	GBM-14-1395-TP	p.P733S	C	GGGCCCCTTTCCAGGGCGTCT	NM_020957	NP_066008	140564331	Q9NRJ7	PCDBG_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	3352	+	T	T			Missense_Mutation	733			Cytoplasmic (Potential).			
PCDHB16	0	broad.mit.edu	GRCh37	5	140563779	140563779	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-28-1753-01	TCGA-28-1753-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361016.2:c.1645G>T	p.Val549Leu	p.V549L	ENST00000361016	NM_020957.1	549	Gtg/Ttg	0			1			T	V/L	uc003liv.2	protein_coding	YES	CCDS4251.1			1645/2331									ovary(1)|pancreas(1)	2	c.(1645-1647)GTG>TTG			Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF71,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin beta 16 precursor				ENSP00000354293		1-Jan									COSM3242734	1-Jan	.		ENST00000361016	Transcript			calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	ENSG00000196963	g.chr5:140563779G>T	14546			MODERATE		2.275	medium	getma.org/?cm=msa&ty=f&p=PCDBG_HUMAN&rb=456&re=552&var=V549L	getma.org/pdb.php?prot=PCDBG_HUMAN&from=456&to=552&var=V549L	getma.org/?cm=var&var=hg19,5,140563779,G,T&fts=all	V549L	--	--	1																																			1	1		possibly_damaging(0.746)	p.V549L	NM_020957	NP_066008		deleterious_low_confidence(0.01)	1	PCDBG_HUMAN	PCDHB16	HGNC	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)				1	2800	+			UPI000006D372	549			Extracellular (Potential).|Cadherin 5.		SNV	PCDHB16,missense_variant,p.Val549Leu,ENST00000361016,NM_020957.1;PCDHB8,downstream_gene_variant,,ENST00000239444,NM_019120.3;PCDHB9,upstream_gene_variant,,ENST00000316105,;	uc003liv.2	c.1645G>T	2800/4814	2	2			c.1645G>T						5	SNP	c.(1645-1647)GTG>TTG	42	42			ovary(1)|pancreas(1)	2	Broad	protocadherin beta 16 precursor			140563779		0.711	ENSG00000196963	11349	g.chr5:140563779G>T	calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							29.8515	KEEP	11	8	0.578947368	39	51	11	8	0.578947368	35.080007	39	51	0.203125	1	0	0	0	0	1	0	0	0	--	--		0	T				207	GBM-28-1753-TP	p.V549L	G	GCTGGTGCGCGTGCTGGTGCT	NM_020957	NP_066008	140563779	Q9NRJ7	PCDBG_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2800	+	T	T			Missense_Mutation	549			Extracellular (Potential).|Cadherin 5.			
PCDHB2	0	broad.mit.edu	GRCh37	5	140475875	140475875	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-12-0619-01	TCGA-12-0619-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000194155.4:c.1501C>A	p.Pro501Thr	p.P501T	ENST00000194155	NM_018936.2	501	Ccc/Acc	0			1			A	P/T	uc003lil.2	protein_coding	YES	CCDS4244.1			1501/2397									ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6	c.(1501-1503)CCC>ACC			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF77,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin beta 2 precursor				ENSP00000194155		1-Jan									COSM2153647	1-Jan	.		ENST00000194155	Transcript			calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	ENSG00000112852	g.chr5:140475875C>A	8687			MODERATE		1.43	low	getma.org/?cm=msa&ty=f&p=PCDB2_HUMAN&rb=458&re=554&var=P501T	getma.org/pdb.php?prot=PCDB2_HUMAN&from=458&to=554&var=P501T	getma.org/?cm=var&var=hg19,5,140475875,C,A&fts=all	P501T	--	--	1																																		PCDHB2_uc003lim.1_Missense_Mutation_p.P162T	1	1		benign(0.178)	p.P501T	NM_018936	NP_061759		deleterious_low_confidence(0.02)	1	PCDB2_HUMAN	PCDHB2	HGNC	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)				1	1639	+			UPI00001273DC	501			Extracellular (Potential).|Cadherin 5.		SNV	PCDHB2,missense_variant,p.Pro501Thr,ENST00000194155,NM_018936.2;PCDHB3,upstream_gene_variant,,ENST00000231130,NM_018937.2;AC005754.7,downstream_gene_variant,,ENST00000607216,;	uc003lil.2	c.1501C>A	1649/2736	2	2			c.1501C>A						5	SNP	c.(1501-1503)CCC>ACC	25	25			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6	Broad	protocadherin beta 2 precursor			140475875		0.692	ENSG00000112852	11350	g.chr5:140475875C>A	calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding							143.824295	KEEP	36	40	0.526315789	69	111	36	40	0.526315789	144.39864	69	111	0.427419	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDHB2_uc003lim.1_Missense_Mutation_p.P162T	120	GBM-12-0619-TP	p.P501T	C	CCCGCACCTGCCCCTCGCCTC	NM_018936	NP_061759	140475875	Q9Y5E7	PCDB2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1639	+	A	A			Missense_Mutation	501			Extracellular (Potential).|Cadherin 5.			
PCDHB3	56132	broad.mit.edu	GRCh37	5	140480851	140480851	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0139-01	TCGA-06-0139-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000231130.2:c.618G>A	p.Pro206=	p.P206=	ENST00000231130	NM_018937.2	206	ccG/ccA	0			1			A	P	uc003lio.2	protein_coding	YES	CCDS4245.1			618/2391									ovary(1)|pancreas(1)	2	c.(616-618)CCG>CCA			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF19,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin beta 3 precursor				ENSP00000231130		1-Jan	1.65E-05		0.000173						rs782181648,COSM3409859	1-Jan	.		ENST00000231130	Transcript			calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	ENSG00000113205	g.chr5:140480851G>A	8688			LOW								--	--	1																																		uc003lin.2_Intron	0,1	1			p.P206P	NM_018937	NP_061760			0,1	PCDB3_HUMAN	PCDHB3	HGNC	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)				1	618	+			UPI00001273DD	206			Extracellular (Potential).|Cadherin 2.		SNV	PCDHB3,synonymous_variant,p.=,ENST00000231130,NM_018937.2;PCDHB2,downstream_gene_variant,,ENST00000194155,NM_018936.2;AC005754.7,intron_variant,,ENST00000607216,;	uc003lio.2	c.618G>A	618/3173	1	1			c.618G>A						5	SNP	c.(616-618)CCG>CCA	60	60			ovary(1)|pancreas(1)	2	Broad	protocadherin beta 3 precursor			140480851		0.567	ENSG00000113205	11351	g.chr5:140480851G>A	calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding							-6.922891	KEEP	2	1	-1	37	26	2	1	-1	6.518178	37	26	0.048387	1	0	0	0	0	0	0	1	0	--	--		0	A			uc003lin.2_Intron	19	GBM-06-0139-TP	p.P206P	G	AGGAGCAGCCGGAACTCAGCT	NM_018937	NP_061760	140480851	Q9Y5E6	PCDB3_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	618	+	A	A			Silent	206			Extracellular (Potential).|Cadherin 2.			
PCDHB3	56132	broad.mit.edu	GRCh37	5	140481632	140481632	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0745-01	TCGA-06-0745-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000231130.2:c.1399G>A	p.Ala467Thr	p.A467T	ENST00000231130	NM_018937.2	467	Gcc/Acc	0			1			A	A/T	uc003lio.2	protein_coding	YES	CCDS4245.1			1399/2391									ovary(1)|pancreas(1)	2	c.(1399-1401)GCC>ACC			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF19,Superfamily_domains:SSF49313	protocadherin beta 3 precursor				ENSP00000231130		1-Jan									COSM2151698	1-Jan	.		ENST00000231130	Transcript			calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	ENSG00000113205	g.chr5:140481632G>A	8688			MODERATE		1.295	low	getma.org/?cm=msa&ty=f&p=PCDB3_HUMAN&rb=456&re=552&var=A467T	getma.org/pdb.php?prot=PCDB3_HUMAN&from=456&to=552&var=A467T	getma.org/?cm=var&var=hg19,5,140481632,G,A&fts=all	A467T	--	--	1																																		uc003lin.2_Intron	1	1		benign(0.287)	p.A467T	NM_018937	NP_061760		deleterious_low_confidence(0)	1	PCDB3_HUMAN	PCDHB3	HGNC	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)				1	1399	+			UPI00001273DD	467			Extracellular (Potential).|Cadherin 5.		SNV	PCDHB3,missense_variant,p.Ala467Thr,ENST00000231130,NM_018937.2;PCDHB2,downstream_gene_variant,,ENST00000194155,NM_018936.2;AC005754.7,intron_variant,,ENST00000607216,;	uc003lio.2	c.1399G>A	1399/3173	2	2			c.1399G>A						5	SNP	c.(1399-1401)GCC>ACC	25	25			ovary(1)|pancreas(1)	2	Broad	protocadherin beta 3 precursor			140481632		0.622	ENSG00000113205	11351	g.chr5:140481632G>A	calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding							251.954559	KEEP	56	70	-1	84	96	56	70	-1	252.400841	84	96	0.44898	1	0	0	0	0	1	0	0	0	--	--		0	A			uc003lin.2_Intron	67	GBM-06-0745-TP	p.A467T	G	CAACAGCCCCGCCCTGCACAT	NM_018937	NP_061760	140481632	Q9Y5E6	PCDB3_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1399	+	A	A			Missense_Mutation	467			Extracellular (Potential).|Cadherin 5.			
PCDHB3	56132	broad.mit.edu	GRCh37	5	140481943	140481943	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0879-01	TCGA-06-0879-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000231130.2:c.1710G>A	p.Ala570=	p.A570=	ENST00000231130	NM_018937.2	570	gcG/gcA	0			1			A	A	uc003lio.2	protein_coding	YES	CCDS4245.1			1710/2391									ovary(1)|pancreas(1)	2	c.(1708-1710)GCG>GCA			hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF19,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313	protocadherin beta 3 precursor				ENSP00000231130		1-Jan									COSM2152268	1-Jan	.		ENST00000231130	Transcript			calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	ENSG00000113205	g.chr5:140481943G>A	8688			LOW								--	--	1																																		uc003lin.2_5'Flank	1	1			p.A570A	NM_018937	NP_061760			1	PCDB3_HUMAN	PCDHB3	HGNC	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)				1	1710	+			UPI00001273DD	570			Extracellular (Potential).|Cadherin 6.		SNV	PCDHB3,synonymous_variant,p.=,ENST00000231130,NM_018937.2;PCDHB2,downstream_gene_variant,,ENST00000194155,NM_018936.2;AC005754.7,upstream_gene_variant,,ENST00000607216,;	uc003lio.2	c.1710G>A	1710/3173	2	2			c.1710G>A						5	SNP	c.(1708-1710)GCG>GCA	30	30			ovary(1)|pancreas(1)	2	Broad	protocadherin beta 3 precursor			140481943		0.711	ENSG00000113205	11351	g.chr5:140481943G>A	calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding							79.089296	KEEP	26	18	-1	54	54	26	18	-1	81.694034	54	54	0.326531	1	0	0	0	0	0	0	1	0	--	--		0	A			uc003lin.2_5'Flank	75	GBM-06-0879-TP	p.A570A	G	ACGGCTCCGCGCCCTGCACCG	NM_018937	NP_061760	140481943	Q9Y5E6	PCDB3_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1710	+	A	A			Silent	570			Extracellular (Potential).|Cadherin 6.			
PCDHB4	56131	broad.mit.edu	GRCh37	5	140502131	140502131	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0122-01	TCGA-06-0122-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000194152.1:c.551A>T	p.His184Leu	p.H184L	ENST00000194152	NM_018938.2	184	cAt/cTt	0			1			T	H/L	uc003lip.1	protein_coding	YES	CCDS4246.1			551/2388									upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	c.(550-552)CAT>CTT			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF55,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin beta 4 precursor				ENSP00000194152		1-Jan									COSM3409860	1-Jan	.		ENST00000194152	Transcript			calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	ENSG00000081818	g.chr5:140502131A>T	8689			MODERATE		0.055	neutral	getma.org/?cm=msa&ty=f&p=PCDB4_HUMAN&rb=138&re=232&var=H184L	getma.org/pdb.php?prot=PCDB4_HUMAN&from=138&to=232&var=H184L	getma.org/?cm=var&var=hg19,5,140502131,A,T&fts=all	H184L	--	--	1																																			1	1		benign(0.016)	p.H184L	NM_018938	NP_061761		tolerated(0.07)	1	PCDB4_HUMAN	PCDHB4	HGNC	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)				1	551	+			UPI00001273DF	184			Cadherin 2.|Extracellular (Potential).		SNV	PCDHB4,missense_variant,p.His184Leu,ENST00000194152,NM_018938.2;AC005754.8,downstream_gene_variant,,ENST00000606030,;	uc003lip.1	c.551A>T	551/3621	2	2			c.551A>T						5	SNP	c.(550-552)CAT>CTT	48	48			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	Broad	protocadherin beta 4 precursor			140502131		0.478	ENSG00000081818	11352	g.chr5:140502131A>T	calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding							-1.044175	KEEP	4	0	-1	27	25	4	0	-1	9.552759	27	25	0.071429	1	0	0	0	0	1	0	0	0	--	--		0	T				10	GBM-06-0122-TP	p.H184L	A	ACTCGAAATCATAGTGAGGGC	NM_018938	NP_061761	140502131	Q9Y5E5	PCDB4_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	551	+	T	T			Missense_Mutation	184			Cadherin 2.|Extracellular (Potential).			
PCDHB4	0	broad.mit.edu	GRCh37	5	140503471	140503471	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01	TCGA-14-0789-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000194152.1:c.1891G>A	p.Glu631Lys	p.E631K	ENST00000194152	NM_018938.2	631	Gag/Aag	0			1			A	E/K	uc003lip.1	protein_coding	YES	CCDS4246.1			1891/2388									upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	c.(1891-1893)GAG>AAG			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF55,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin beta 4 precursor				ENSP00000194152		1-Jan									COSM3409863	1-Jan	.		ENST00000194152	Transcript			calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	ENSG00000081818	g.chr5:140503471G>A	8689			MODERATE		2.79	medium	getma.org/?cm=msa&ty=f&p=PCDB4_HUMAN&rb=574&re=662&var=E631K	getma.org/pdb.php?prot=PCDB4_HUMAN&from=574&to=662&var=E631K	getma.org/?cm=var&var=hg19,5,140503471,G,A&fts=all	E631K	--	--	1																																			1	1		possibly_damaging(0.477)	p.E631K	NM_018938	NP_061761		deleterious_low_confidence(0.01)	1	PCDB4_HUMAN	PCDHB4	HGNC	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)				1	1891	+			UPI00001273DF	631			Cadherin 6.|Extracellular (Potential).		SNV	PCDHB4,missense_variant,p.Glu631Lys,ENST00000194152,NM_018938.2;AC005754.8,downstream_gene_variant,,ENST00000606030,;	uc003lip.1	c.1891G>A	1891/3621	1	1			c.1891G>A						5	SNP	c.(1891-1893)GAG>AAG	53	53			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	Broad	protocadherin beta 4 precursor			140503471		0.687	ENSG00000081818	11352	g.chr5:140503471G>A	calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding							96.936712	KEEP	20	27	-1	74	69	20	27	-1	100.313996	74	69	0.318966	1	0	0	0	0	1	0	0	0	--	--		0	A				136	GBM-14-0789-TP	p.E631K	G	GCTGCTGAGCGAGCGCGACGC	NM_018938	NP_061761	140503471	Q9Y5E5	PCDB4_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1891	+	A	A			Missense_Mutation	631			Cadherin 6.|Extracellular (Potential).			
PCDHB4	56131		GRCh37	5	140503426	140503426	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000194152.1:c.1846G>A	p.Val616Met	p.V616M	ENST00000194152	NM_018938.2	616	Gtg/Atg	0																																																																																																																																																																																																																																												
PCDHB5	26167	broad.mit.edu	GRCh37	5	140517047	140517052	+	inframe_deletion	In_Frame_Del	DEL	GGCCCA	GGCCCA	-			TCGA-06-0749-01	TCGA-06-0749-01	GGCCCA	GGCCCA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000231134.5:c.2041_2046del	p.Gln681_Ala682del	p.Q681_A682del	ENST00000231134	NM_015669.2	677	ccGGCCCAg/ccg	0			1			-	PAQ/P	uc003liq.2	protein_coding	YES	CCDS4247.1			2031-2036/2388									skin(3)|ovary(2)	5	c.(2029-2037)CCGGCCCAG>CCG			hmmpanther:PTHR24028:SF64,hmmpanther:PTHR24028,Low_complexity_(Seg):seg	protocadherin beta 5 precursor				ENSP00000231134		1-Jan										1-Jan	.		ENST00000231134	Transcript			calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	ENSG00000113209	g.chr5:140517047_140517052delGGCCCA	8690	10		MODERATE								--	--	1																																				1			p.AQ680del	NM_015669	NP_056484				PCDB5_HUMAN	PCDHB5	HGNC	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)				1	2248_2253	+			UPI00001273E1	680_681			Extracellular (Potential).		deletion	PCDHB5,inframe_deletion,p.Gln681_Ala682del,ENST00000231134,NM_015669.2;	uc003liq.2	c.2031_2036delGGCCCA	2248-2253/2904	5	5			c.2031_2036delGGCCCA						5	DEL	c.(2029-2037)CCGGCCCAG>CCG	6	6			skin(3)|ovary(2)	5	Broad	protocadherin beta 5 precursor			140517052		0.694	ENSG00000113209	11353	g.chr5:140517047_140517052delGGCCCA	calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding																				0.12	1	1	0	1	0	0	0	0	0	--	--		0	-				69	GBM-06-0749-TP	p.AQ680del	GGCCCA	AGGCGGCCCCGGCCCAGGCCCAGGCC	NM_015669	NP_056484	140517047	Q9Y5E4	PCDB5_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2248_2253	+	-	-			In_Frame_Del	680_681			Extracellular (Potential).			
PCDHB5	26167		GRCh37	5	140516934	140516934	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0151-01	TCGA-06-0151-01																				ENST00000231134.5:c.1918G>A	p.Val640Met	p.V640M	ENST00000231134	NM_015669.2	640	Gtg/Atg	0																																																																																																																																																																																																																																												
PCDHB5	26167		GRCh37	5	140516927	140516927	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000231134.5:c.1911C>G	p.His637Gln	p.H637Q	ENST00000231134	NM_015669.2	637	caC/caG	0																																																																																																																																																																																																																																												
PCDHB5	26167		GRCh37	5	140515027	140515027	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000231134.5:c.11C>T	p.Ala4Val	p.A4V	ENST00000231134	NM_015669.2	4	gCg/gTg	0																																																																																																																																																																																																																																												
PCDHB6	56130	broad.mit.edu	GRCh37	5	140532029	140532029	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0646-01	TCGA-06-0646-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000231136.1:c.2191C>G	p.Pro731Ala	p.P731A	ENST00000231136	NM_018939.2	731	Cca/Gca	0			1			G	P/A	uc003lir.2	protein_coding	YES	CCDS4248.1			2191/2385									skin(1)	1	c.(2191-2193)CCA>GCA			hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF104	protocadherin beta 6 precursor				ENSP00000231136		1-Jan									COSM2151331	1-Jan	.		ENST00000231136	Transcript			calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	ENSG00000113211	g.chr5:140532029C>G	8691			MODERATE		2.13	medium	getma.org/?cm=msa&ty=f&p=PCDB6_HUMAN&rb=662&re=794&var=P731A	NA	getma.org/?cm=var&var=hg19,5,140532029,C,G&fts=all	P731A	--	--	1																																		PCDHB6_uc011dah.1_Missense_Mutation_p.P595A	1	1		benign(0.213)	p.P731A	NM_018939	NP_061762		deleterious(0.03)	1	PCDB6_HUMAN	PCDHB6	HGNC	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		F5H446_HUMAN		1	2191	+			UPI00001273E2	731			Cytoplasmic (Potential).		SNV	PCDHB6,missense_variant,p.Pro731Ala,ENST00000231136,NM_018939.2;PCDHB6,missense_variant,p.Pro595Ala,ENST00000543635,;PCDHB17,upstream_gene_variant,,ENST00000539533,;	uc003lir.2	c.2191C>G	2191/3030	3	3			c.2191C>G						5	SNP	c.(2191-2193)CCA>GCA	8	8			skin(1)	1	Broad	protocadherin beta 6 precursor			140532029		0.612	ENSG00000113211	11354	g.chr5:140532029C>G	calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding							252.175592	KEEP	35	50	-1	120	115	35	50	-1	266.261919	120	115	0.27027	1	0	0	0	0	1	0	0	0	--	--		0	G			PCDHB6_uc011dah.1_Missense_Mutation_p.P595A	60	GBM-06-0646-TP	p.P731A	C	GGGTCCCTTTCCAGGGCATCT	NM_018939	NP_061762	140532029	Q9Y5E3	PCDB6_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2191	+	G	G			Missense_Mutation	731			Cytoplasmic (Potential).			
PCDHB6	0	broad.mit.edu	GRCh37	5	140530986	140530986	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs142117819	by1000genomes	TCGA-14-1829-01	TCGA-14-1829-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000231136.1:c.1148T>C	p.Ile383Thr	p.I383T	ENST00000231136	NM_018939.2	383	aTa/aCa	0	C:0.0002	C:0	1	C:0		C	I/T	uc003lir.2	protein_coding	YES	CCDS4248.1			1148/2385									skin(1)	1	c.(1147-1149)ATA>ACA			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF104,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin beta 6 precursor		C:0	C:0	ENSP00000231136	C:0.002	1-Jan	5.77E-05			0.000578		1.50E-05		6.06E-05	rs142117819,COSM3409865	1-Jan	common_variant		ENST00000231136	Transcript		C:0.0004	calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	ENSG00000113211	g.chr5:140530986T>C	8691			MODERATE		3.605	high	getma.org/?cm=msa&ty=f&p=PCDB6_HUMAN&rb=351&re=440&var=I383T	NA	getma.org/?cm=var&var=hg19,5,140530986,T,C&fts=all	I383T	--	--	1																																		PCDHB6_uc011dah.1_Missense_Mutation_p.I247T	0,1	1		benign(0.423)	p.I383T	NM_018939	NP_061762	C:0	deleterious(0)	0,1	PCDB6_HUMAN	PCDHB6	HGNC	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		F5H446_HUMAN		1	1148	+			UPI00001273E2	383			Cadherin 4.|Extracellular (Potential).		SNV	PCDHB6,missense_variant,p.Ile383Thr,ENST00000231136,NM_018939.2;PCDHB6,missense_variant,p.Ile247Thr,ENST00000543635,;PCDHB17,upstream_gene_variant,,ENST00000539533,;	uc003lir.2	c.1148T>C	1148/3030	3	3			c.1148T>C						5	SNP	c.(1147-1149)ATA>ACA	1	1			skin(1)	1	Broad	protocadherin beta 6 precursor			140530986		0.463	ENSG00000113211	11354	g.chr5:140530986T>C	calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding							258.143825	KEEP	48	37	-1	81	91	48	37	-1	263.374003	81	91	0.337778	1	0	0	0	0	1	0	0	0	--	--		0	C			PCDHB6_uc011dah.1_Missense_Mutation_p.I247T	149	GBM-14-1829-TP	p.I383T	T	ATTTGTTCAATAGAGAACAAT	NM_018939	NP_061762	140530986	Q9Y5E3	PCDB6_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1148	+	C	C			Missense_Mutation	383			Cadherin 4.|Extracellular (Potential).			
PCDHB7	56129	broad.mit.edu	GRCh37	5	140554382	140554382	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01	TCGA-06-0744-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000231137.3:c.1966G>A	p.Ala656Thr	p.A656T	ENST00000231137	NM_018940.2	656	Gcc/Acc	0			1			A	A/T	uc003lit.2	protein_coding	YES	CCDS4249.1			1966/2382									ovary(4)|central_nervous_system(1)|skin(1)	6	c.(1966-1968)GCC>ACC			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF69,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin beta 7 precursor				ENSP00000231137		1-Jan	8.30E-06							6.09E-05	rs782388523,COSM1754055	1-Jan	.		ENST00000231137	Transcript			calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000113212	g.chr5:140554382G>A	8692			MODERATE		1.92	medium	getma.org/?cm=msa&ty=f&p=PCDB7_HUMAN&rb=576&re=663&var=A656T	getma.org/pdb.php?prot=PCDB7_HUMAN&from=576&to=663&var=A656T	getma.org/?cm=var&var=hg19,5,140554382,G,A&fts=all	A656T	--	--	1																																			0,1	1		benign(0.15)	p.A656T	NM_018940	NP_061763		deleterious_low_confidence(0.01)	0,1	PCDB7_HUMAN	PCDHB7	HGNC	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)				1	2140	+			UPI00001273E3	656			Cadherin 6.|Extracellular (Potential).		SNV	PCDHB7,missense_variant,p.Ala656Thr,ENST00000231137,NM_018940.2;PCDHB8,upstream_gene_variant,,ENST00000239444,NM_019120.3;	uc003lit.2	c.1966G>A	2140/3715	2	2			c.1966G>A						5	SNP	c.(1966-1968)GCC>ACC	18	18			ovary(4)|central_nervous_system(1)|skin(1)	6	Broad	protocadherin beta 7 precursor			140554382		0.706	ENSG00000113212	11355	g.chr5:140554382G>A	calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							94.877624	KEEP	29	23	-1	80	60	29	23	-1	99.35442	80	60	0.298387	1	0	0	0	0	1	0	0	0	--	--		0	A				66	GBM-06-0744-TP	p.A656T	G	CTCGGCCACCGCCACGCTGCA	NM_018940	NP_061763	140554382	Q9Y5E2	PCDB7_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2140	+	A	A			Missense_Mutation	656			Cadherin 6.|Extracellular (Potential).			
PCDHB7	0	broad.mit.edu	GRCh37	5	140554290	140554290	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1829-01	TCGA-14-1829-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000231137.3:c.1874G>A	p.Arg625His	p.R625H	ENST00000231137	NM_018940.2	625	cGt/cAt	0		A:0	1	A:0.0014		A	R/H	uc003lit.2	protein_coding	YES	CCDS4249.1			1874/2382									ovary(4)|central_nervous_system(1)|skin(1)	6	c.(1873-1875)CGT>CAT			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF69,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin beta 7 precursor		A:0		ENSP00000231137	A:0	1-Jan	2.48E-05		0.000262						rs544763939,COSM3409873	1-Jan	.		ENST00000231137	Transcript		A:0.0002	calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000113212	g.chr5:140554290G>A	8692			MODERATE		3.145	medium	getma.org/?cm=msa&ty=f&p=PCDB7_HUMAN&rb=576&re=663&var=R625H	getma.org/pdb.php?prot=PCDB7_HUMAN&from=576&to=663&var=R625H	getma.org/?cm=var&var=hg19,5,140554290,G,A&fts=all	R625H	--	--	1																																			0,1	1		possibly_damaging(0.511)	p.R625H	NM_018940	NP_061763	A:0	deleterious_low_confidence(0.05)	0,1	PCDB7_HUMAN	PCDHB7	HGNC	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)				1	2048	+			UPI00001273E3	625			Cadherin 6.|Extracellular (Potential).		SNV	PCDHB7,missense_variant,p.Arg625His,ENST00000231137,NM_018940.2;PCDHB8,upstream_gene_variant,,ENST00000239444,NM_019120.3;	uc003lit.2	c.1874G>A	2048/3715	2	2			c.1874G>A						5	SNP	c.(1873-1875)CGT>CAT	28	28			ovary(4)|central_nervous_system(1)|skin(1)	6	Broad	protocadherin beta 7 precursor			140554290		0.697	ENSG00000113212	11355	g.chr5:140554290G>A	calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							124.883514	KEEP	19	30	-1	34	56	19	30	-1	126.361254	34	56	0.37931	1	0	0	0	0	1	0	0	0	--	--		0	A				149	GBM-14-1829-TP	p.R625H	G	GGCGAGGTGCGTACCGCCAGG	NM_018940	NP_061763	140554290	Q9Y5E2	PCDB7_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2048	+	A	A			Missense_Mutation	625			Cadherin 6.|Extracellular (Potential).			
PCDHB7	0	broad.mit.edu	GRCh37	5	140553181	140553181	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-2631-01	TCGA-19-2631-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000231137.3:c.765C>T	p.Ser255=	p.S255=	ENST00000231137	NM_018940.2	255	agC/agT	0			1			T	S	uc003lit.2	protein_coding	YES	CCDS4249.1			765/2382									ovary(4)|central_nervous_system(1)|skin(1)	6	c.(763-765)AGC>AGT			Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF69,Superfamily_domains:SSF49313	protocadherin beta 7 precursor				ENSP00000231137		1-Jan									rs781956268,COSM3409868	1-Jan	.		ENST00000231137	Transcript			calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000113212	g.chr5:140553181C>T	8692			LOW								--	--	1																																			0,1	1			p.S255S	NM_018940	NP_061763			0,1	PCDB7_HUMAN	PCDHB7	HGNC	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)				1	939	+			UPI00001273E3	255			Extracellular (Potential).|Cadherin 3.		SNV	PCDHB7,synonymous_variant,p.=,ENST00000231137,NM_018940.2;PCDHB8,upstream_gene_variant,,ENST00000239444,NM_019120.3;	uc003lit.2	c.765C>T	939/3715	2	2			c.765C>T						5	SNP	c.(763-765)AGC>AGT	18	18			ovary(4)|central_nervous_system(1)|skin(1)	6	Broad	protocadherin beta 7 precursor			140553181		0.507	ENSG00000113212	11355	g.chr5:140553181C>T	calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							-31.807646	KEEP	1	4	-1	79	99	1	4	-1	6.369496	79	99	0.02027	1	0	0	0	0	0	0	1	0	--	--		0	T				167	GBM-19-2631-TP	p.S255S	C	CCGAAAATAGCCCCGTTGGTT	NM_018940	NP_061763	140553181	Q9Y5E2	PCDB7_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	939	+	T	T			Silent	255			Extracellular (Potential).|Cadherin 3.			
PCDHB7	0	broad.mit.edu	GRCh37	5	140553185	140553185	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01	TCGA-19-5955-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000231137.3:c.769G>A	p.Val257Ile	p.V257I	ENST00000231137	NM_018940.2	257	Gtt/Att	0			1			A	V/I	uc003lit.2	protein_coding	YES	CCDS4249.1			769/2382									ovary(4)|central_nervous_system(1)|skin(1)	6	c.(769-771)GTT>ATT			Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF69,Superfamily_domains:SSF49313	protocadherin beta 7 precursor				ENSP00000231137		1-Jan									COSM3409869	1-Jan	.		ENST00000231137	Transcript			calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000113212	g.chr5:140553185G>A	8692			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=PCDB7_HUMAN&rb=247&re=338&var=V257I	getma.org/pdb.php?prot=PCDB7_HUMAN&from=247&to=338&var=V257I	getma.org/?cm=var&var=hg19,5,140553185,G,A&fts=all	V257I	--	--	1																																			1	1		benign(0.001)	p.V257I	NM_018940	NP_061763		tolerated_low_confidence(0.72)	1	PCDB7_HUMAN	PCDHB7	HGNC	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)				1	943	+			UPI00001273E3	257			Extracellular (Potential).|Cadherin 3.		SNV	PCDHB7,missense_variant,p.Val257Ile,ENST00000231137,NM_018940.2;PCDHB8,upstream_gene_variant,,ENST00000239444,NM_019120.3;	uc003lit.2	c.769G>A	943/3715	1	1			c.769G>A						5	SNP	c.(769-771)GTT>ATT	62	62			ovary(4)|central_nervous_system(1)|skin(1)	6	Broad	protocadherin beta 7 precursor			140553185		0.502	ENSG00000113212	11355	g.chr5:140553185G>A	calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							29.433891	KEEP	8	10	-1	37	62	8	10	-1	41.054705	37	62	0.160377	1	0	0	0	0	1	0	0	0	--	--		0	A				175	GBM-19-5955-TP	p.V257I	G	AAATAGCCCCGTTGGTTCCAT	NM_018940	NP_061763	140553185	Q9Y5E2	PCDB7_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	943	+	A	A			Missense_Mutation	257			Extracellular (Potential).|Cadherin 3.			
PCDHB7	0	broad.mit.edu	GRCh37	5	140554315	140554315	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-2526-01	TCGA-27-2526-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000231137.3:c.1899C>T	p.Arg633=	p.R633=	ENST00000231137	NM_018940.2	633	cgC/cgT	0			1			T	R	uc003lit.2	protein_coding	YES	CCDS4249.1			1899/2382									ovary(4)|central_nervous_system(1)|skin(1)	6	c.(1897-1899)CGC>CGT			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF69,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin beta 7 precursor				ENSP00000231137		1-Jan									COSM3409874	1-Jan	.		ENST00000231137	Transcript			calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000113212	g.chr5:140554315C>T	8692			LOW								--	--	1																																			1	1			p.R633R	NM_018940	NP_061763			1	PCDB7_HUMAN	PCDHB7	HGNC	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)				1	2073	+			UPI00001273E3	633			Cadherin 6.|Extracellular (Potential).		SNV	PCDHB7,synonymous_variant,p.=,ENST00000231137,NM_018940.2;PCDHB8,upstream_gene_variant,,ENST00000239444,NM_019120.3;	uc003lit.2	c.1899C>T	2073/3715	2	2			c.1899C>T						5	SNP	c.(1897-1899)CGC>CGT	22	22			ovary(4)|central_nervous_system(1)|skin(1)	6	Broad	protocadherin beta 7 precursor			140554315		0.687	ENSG00000113212	11355	g.chr5:140554315C>T	calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							63.921117	KEEP	19	21	-1	52	71	19	21	-1	69.468214	52	71	0.254902	1	0	0	0	0	0	0	1	0	--	--		0	T				203	GBM-27-2526-TP	p.R633R	C	TGAGCGAGCGCGACGCAGCCA	NM_018940	NP_061763	140554315	Q9Y5E2	PCDB7_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2073	+	T	T			Silent	633			Cadherin 6.|Extracellular (Potential).			
PCDHB7	0	broad.mit.edu	GRCh37	5	140553608	140553608	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1986-01	TCGA-32-1986-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000231137.3:c.1192G>A	p.Glu398Lys	p.E398K	ENST00000231137	NM_018940.2	398	Gaa/Aaa	0			1			A	E/K	uc003lit.2	protein_coding	YES	CCDS4249.1			1192/2382						not_provided			ovary(4)|central_nervous_system(1)|skin(1)	6	c.(1192-1194)GAA>AAA			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF69,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin beta 7 precursor				ENSP00000231137		1-Jan									rs267600426,COSM276654	1-Jan	.		ENST00000231137	Transcript			calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000113212	g.chr5:140553608G>A	8692			MODERATE		0.125	neutral	getma.org/?cm=msa&ty=f&p=PCDB7_HUMAN&rb=353&re=442&var=E398K	NA	getma.org/?cm=var&var=hg19,5,140553608,G,A&fts=all	E398K	--	--	1																																			1,1	1		benign(0.003)	p.E398K	NM_018940	NP_061763		tolerated_low_confidence(0.54)	0,1	PCDB7_HUMAN	PCDHB7	HGNC	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)				1	1366	+			UPI00001273E3	398			Extracellular (Potential).|Cadherin 4.		SNV	PCDHB7,missense_variant,p.Glu398Lys,ENST00000231137,NM_018940.2;PCDHB8,upstream_gene_variant,,ENST00000239444,NM_019120.3;	uc003lit.2	c.1192G>A	1366/3715	2	2			c.1192G>A						5	SNP	c.(1192-1194)GAA>AAA	23	23			ovary(4)|central_nervous_system(1)|skin(1)	6	Broad	protocadherin beta 7 precursor			140553608		0.493	ENSG00000113212	11355	g.chr5:140553608G>A	calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							56.209737	KEEP	8	15	-1	34	37	8	15	-1	61.033973	34	37	0.252874	1	0	0	0	0	1	0	0	0	--	--		0	A				233	GBM-32-1986-TP	p.E398K	G	GCCATCTGTCGAAAACTTCTA	NM_018940	NP_061763	140553608	Q9Y5E2	PCDB7_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1366	+	A	A			Missense_Mutation	398			Extracellular (Potential).|Cadherin 4.			
PCDHB7	56129		GRCh37	5	140554787	140554787	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000231137.3:c.2371T>G	p.Leu791Val	p.L791V	ENST00000231137	NM_018940.2	791	Ttg/Gtg	0																																																																																																																																																																																																																																												
PCDHB7	56129		GRCh37	5	140554075	140554075	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000231137.3:c.1659C>T	p.Asp553=	p.D553=	ENST00000231137	NM_018940.2	553	gaC/gaT	0																																																																																																																																																																																																																																												
PCDHGA1	56114	broad.mit.edu	GRCh37	5	140712400	140712400	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-0055-01	TCGA-02-0055-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000517417.1:c.2149C>T	p.Arg717Trp	p.R717W	ENST00000517417	NM_018912.2	717	Cgg/Tgg	0			1			T	R/W	uc003lji.1	protein_coding	YES	CCDS54922.1			2149/2796									ovary(1)|breast(1)|pancreas(1)	3	c.(2149-2151)CGG>TGG			hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF108	protocadherin gamma subfamily A, 1 isoform 1				ENSP00000431083		4-Jan	8.24E-06					1.50E-05			rs769608961,COSM1434361,COSM1434362	4-Jan	.		ENST00000517417	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000204956	g.chr5:140712400C>T	8696			MODERATE		2.04	medium	getma.org/?cm=msa&ty=f&p=PCDG1_HUMAN&rb=666&re=865&var=R717W	NA	getma.org/?cm=var&var=hg19,5,140712400,C,T&fts=all	R717W	--	--	1																																		PCDHGA1_uc011dan.1_Missense_Mutation_p.R717W	0,1,1	1		benign(0.082)	p.R717W	NM_018912	NP_061735		tolerated_low_confidence(0.1)	0,1,1	PCDG1_HUMAN	PCDHGA1	HGNC	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	2149	+			UPI0000070596	717			Cytoplasmic (Potential).		SNV	PCDHGA1,missense_variant,p.Arg717Trp,ENST00000517417,NM_018912.2;PCDHGA1,missense_variant,p.Arg717Trp,ENST00000378105,NM_031993.1;AC005618.6,downstream_gene_variant,,ENST00000606901,;AC005618.6,downstream_gene_variant,,ENST00000606674,;	uc003lji.1	c.2149C>T	2149/4602	2	2			c.2149C>T						5	SNP	c.(2149-2151)CGG>TGG	45	45			ovary(1)|breast(1)|pancreas(1)	3	Broad	protocadherin gamma subfamily A, 1 isoform 1			140712400		0.657	ENSG00000204956	11358	g.chr5:140712400C>T	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							169.221553	KEEP	35	39	-1	44	57	35	39	-1	169.735996	44	57	0.433824	1	0	0	0	0	1	0	0	0	--	--		0	T			PCDHGA1_uc011dan.1_Missense_Mutation_p.R717W	4	GBM-02-0055-TP	p.R717W	C	GCACAGGCTGCGGCGCTGGCA	NM_018912	NP_061735	140712400	Q9Y5H4	PCDG1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2149	+	T	T			Missense_Mutation	717			Cytoplasmic (Potential).			
PCDHGA1	0	broad.mit.edu	GRCh37	5	140711854	140711854	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01	TCGA-12-3649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000517417.1:c.1603C>T	p.Arg535Trp	p.R535W	ENST00000517417	NM_018912.2	535	Cgg/Tgg	0			1			T	R/W	uc003lji.1	protein_coding	YES	CCDS54922.1			1603/2796									ovary(1)|breast(1)|pancreas(1)	3	c.(1603-1605)CGG>TGG			Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF108,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin gamma subfamily A, 1 isoform 1				ENSP00000431083		4-Jan	8.24E-06							6.06E-05	rs766357788,COSM384670,COSM384671	4-Jan	.		ENST00000517417	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000204956	g.chr5:140711854C>T	8696			MODERATE		2.66	medium	getma.org/?cm=msa&ty=f&p=PCDG1_HUMAN&rb=457&re=553&var=R535W	getma.org/pdb.php?prot=PCDG1_HUMAN&from=457&to=553&var=R535W	getma.org/?cm=var&var=hg19,5,140711854,C,T&fts=all	R535W	--	--	1																																		PCDHGA1_uc011dan.1_Missense_Mutation_p.R535W	0,1,1	1		benign(0.015)	p.R535W	NM_018912	NP_061735		tolerated_low_confidence(0.09)	0,1,1	PCDG1_HUMAN	PCDHGA1	HGNC	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	1603	+			UPI0000070596	535			Extracellular (Potential).|Cadherin 5.		SNV	PCDHGA1,missense_variant,p.Arg535Trp,ENST00000517417,NM_018912.2;PCDHGA1,missense_variant,p.Arg535Trp,ENST00000378105,NM_031993.1;AC005618.6,downstream_gene_variant,,ENST00000606901,;AC005618.6,downstream_gene_variant,,ENST00000606674,;	uc003lji.1	c.1603C>T	1603/4602	2	2			c.1603C>T						5	SNP	c.(1603-1605)CGG>TGG	24	24			ovary(1)|breast(1)|pancreas(1)	3	Broad	protocadherin gamma subfamily A, 1 isoform 1			140711854		0.602	ENSG00000204956	11358	g.chr5:140711854C>T	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							290.105479	KEEP	61	55	-1	120	137	61	55	-1	299.028558	120	137	0.325228	1	0	0	0	0	1	0	0	0	--	--		0	T			PCDHGA1_uc011dan.1_Missense_Mutation_p.R535W	125	GBM-12-3649-TP	p.R535W	C	AGTGATGGCGCGGGACAGTGG	NM_018912	NP_061735	140711854	Q9Y5H4	PCDG1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1603	+	T	T			Missense_Mutation	535			Extracellular (Potential).|Cadherin 5.			
PCDHGA1	0	broad.mit.edu	GRCh37	5	140712004	140712004	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01	TCGA-76-4926-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000517417.1:c.1753G>A	p.Gly585Ser	p.G585S	ENST00000517417	NM_018912.2	585	Ggc/Agc	0			1			A	G/S	uc003lji.1	protein_coding	YES	CCDS54922.1			1753/2796									ovary(1)|breast(1)|pancreas(1)	3	c.(1753-1755)GGC>AGC			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF108,Superfamily_domains:SSF49313	protocadherin gamma subfamily A, 1 isoform 1				ENSP00000431083		4-Jan									COSM3409890,COSM3409891	4-Jan	.		ENST00000517417	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000204956	g.chr5:140712004G>A	8696			MODERATE		3.49	medium	getma.org/?cm=msa&ty=f&p=PCDG1_HUMAN&rb=579&re=665&var=G585S	getma.org/pdb.php?prot=PCDG1_HUMAN&from=579&to=665&var=G585S	getma.org/?cm=var&var=hg19,5,140712004,G,A&fts=all	G585S	--	--	1																																		PCDHGA1_uc011dan.1_Missense_Mutation_p.G585S	1,1	1		probably_damaging(0.999)	p.G585S	NM_018912	NP_061735		deleterious_low_confidence(0.01)	1,1	PCDG1_HUMAN	PCDHGA1	HGNC	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	1753	+			UPI0000070596	585			Extracellular (Potential).|Cadherin 6.		SNV	PCDHGA1,missense_variant,p.Gly585Ser,ENST00000517417,NM_018912.2;PCDHGA1,missense_variant,p.Gly585Ser,ENST00000378105,NM_031993.1;AC005618.6,downstream_gene_variant,,ENST00000606901,;AC005618.6,downstream_gene_variant,,ENST00000606674,;	uc003lji.1	c.1753G>A	1753/4602	2	2			c.1753G>A						5	SNP	c.(1753-1755)GGC>AGC	25	25			ovary(1)|breast(1)|pancreas(1)	3	Broad	protocadherin gamma subfamily A, 1 isoform 1			140712004		0.677	ENSG00000204956	11358	g.chr5:140712004G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							212.753661	KEEP	37	42	-1	77	83	37	42	-1	216.107701	77	83	0.364078	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDHGA1_uc011dan.1_Missense_Mutation_p.G585S	266	GBM-76-4926-TP	p.G585S	G	CGCAGAGCCCGGCTACCTGGT	NM_018912	NP_061735	140712004	Q9Y5H4	PCDG1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1753	+	A	A			Missense_Mutation	585			Extracellular (Potential).|Cadherin 6.			
PCDHGA10	56106	broad.mit.edu	GRCh37	5	140794507	140794507	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01	TCGA-06-0158-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398610.2:c.1765G>A	p.Gly589Ser	p.G589S	ENST00000398610	NM_018913.2	589	Ggc/Agc	0			1			A	G/S	uc003lkl.1	protein_coding	YES	CCDS47292.1			1765/2811										0	c.(1765-1767)GGC>AGC			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF110,Superfamily_domains:SSF49313	protocadherin gamma subfamily A, 10 isoform 1				ENSP00000381611		4-Jan	8.24E-06			0.000116					rs749356512,COSM2150107	4-Jan	.		ENST00000398610	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000253846	g.chr5:140794507G>A	8697			MODERATE		3.515	high	getma.org/?cm=msa&ty=f&p=PCDGA_HUMAN&rb=582&re=669&var=G589S	getma.org/pdb.php?prot=PCDGA_HUMAN&from=582&to=669&var=G589S	getma.org/?cm=var&var=hg19,5,140794507,G,A&fts=all	G589S	--	--	1																																		PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.G589S|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	0,1	1		probably_damaging(0.995)	p.G589S	NM_018913	NP_061736		deleterious_low_confidence(0.01)	0,1	PCDGA_HUMAN	PCDHGA10	HGNC	Q9Y5H3	PCDGA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	1765	+			UPI00000726C3	589			Cadherin 6.|Extracellular (Potential).		SNV	PCDHGA10,missense_variant,p.Gly589Ser,ENST00000398610,NM_018913.2,NM_032090.1;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2,NM_032086.1;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.2;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2,NM_032089.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,NM_032096.1;PCDHGB6,intron_variant,,ENST00000520790,NM_018926.2,NM_032100.1;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2,NM_018925.2,NM_032098.1;PCDHGB7,upstream_gene_variant,,ENST00000398594,NM_018927.3;	uc003lkl.1	c.1765G>A	1765/4617	2	2			c.1765G>A						5	SNP	c.(1765-1767)GGC>AGC	22	22				0	Broad	protocadherin gamma subfamily A, 10 isoform 1			140794507		0.677	ENSG00000253846	11359	g.chr5:140794507G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							247.076534	KEEP	48	47	-1	92	96	48	47	-1	252.218556	92	96	0.344398	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.G589S|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	29	GBM-06-0158-TP	p.G589S	G	CGCAGAGCCCGGCTACCTGGT	NM_018913	NP_061736	140794507	Q9Y5H3	PCDGA_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1765	+	A	A			Missense_Mutation	589			Cadherin 6.|Extracellular (Potential).			
PCDHGA11	56105	broad.mit.edu	GRCh37	5	140802272	140802272	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398587.2:c.1478C>T	p.Thr493Met	p.T493M	ENST00000398587	NM_032092.1	493	aCg/aTg	0			1			T	T/M	uc003lkq.1	protein_coding	YES	CCDS47294.1			1478/2808										0	c.(1477-1479)ACG>ATG			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF84,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin gamma subfamily A, 11 isoform 1				ENSP00000381589		4-Jan	8.25E-06					1.53E-05			rs371027437,COSM3409944	4-Jan	.		ENST00000398587	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000253873	g.chr5:140802272C>T	8698			MODERATE		0.385	neutral	getma.org/?cm=msa&ty=f&p=PCDGB_HUMAN&rb=458&re=554&var=T493M	getma.org/pdb.php?prot=PCDGB_HUMAN&from=458&to=554&var=T493M	getma.org/?cm=var&var=hg19,5,140802272,C,T&fts=all	T493M	--	--	1																																		PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.T493M|PCDHGA11_uc003lkp.1_Missense_Mutation_p.T493M	0,1	1		benign(0.088)	p.T493M	NM_018914	NP_061737		tolerated_low_confidence(0.05)	0,1	PCDGB_HUMAN	PCDHGA11	HGNC	Q9Y5H2	PCDGB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	1736	+			UPI00000739DC	493			Extracellular (Potential).|Cadherin 5.		SNV	PCDHGA11,missense_variant,p.Thr493Met,ENST00000398587,NM_032092.1,NM_018914.2;PCDHGA11,missense_variant,p.Thr493Met,ENST00000518882,;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGA10,intron_variant,,ENST00000398610,NM_018913.2,NM_032090.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.2;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2,NM_032086.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2,NM_032089.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,NM_032096.1;PCDHGB6,intron_variant,,ENST00000520790,NM_018926.2,NM_032100.1;PCDHGB7,intron_variant,,ENST00000398594,NM_018927.3;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2,NM_018925.2,NM_032098.1;PCDHGB8P,upstream_gene_variant,,ENST00000502926,;PCDHGB8P,upstream_gene_variant,,ENST00000507007,;	uc003lkq.1	c.1478C>T	1511/3936	2	2			c.1478C>T						5	SNP	c.(1477-1479)ACG>ATG	21	21				0	Broad	protocadherin gamma subfamily A, 11 isoform 1			140802272		0.532	ENSG00000253873	11360	g.chr5:140802272C>T	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							269.622491	KEEP	32	50	-1	12	16	32	50	-1	275.763402	12	16	0.75	1	0	0	0	0	1	0	0	0	--	--		0	T			PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.T493M|PCDHGA11_uc003lkp.1_Missense_Mutation_p.T493M	102	GBM-06-5858-TP	p.T493M	C	TACTCTCTGACGGATGACACT	NM_018914	NP_061737	140802272	Q9Y5H2	PCDGB_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1736	+	T	T			Missense_Mutation	493			Extracellular (Potential).|Cadherin 5.			
PCDHGA11	0	broad.mit.edu	GRCh37	5	140802685	140802685	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1837-01	TCGA-27-1837-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398587.2:c.1891C>T	p.Arg631Trp	p.R631W	ENST00000398587	NM_032092.1	631	Cgg/Tgg	0			1			T	R/W	uc003lkq.1	protein_coding	YES	CCDS47294.1			1891/2808										0	c.(1891-1893)CGG>TGG			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF84,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin gamma subfamily A, 11 isoform 1				ENSP00000381589		4-Jan									COSM3409945	4-Jan	.		ENST00000398587	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000253873	g.chr5:140802685C>T	8698			MODERATE		3.77	high	getma.org/?cm=msa&ty=f&p=PCDGB_HUMAN&rb=579&re=666&var=R631W	getma.org/pdb.php?prot=PCDGB_HUMAN&from=579&to=666&var=R631W	getma.org/?cm=var&var=hg19,5,140802685,C,T&fts=all	R631W	--	--	1																																		PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.R631W|PCDHGA11_uc003lkp.1_Intron	1	1		probably_damaging(1)	p.R631W	NM_018914	NP_061737		deleterious_low_confidence(0)	1	PCDGB_HUMAN	PCDHGA11	HGNC	Q9Y5H2	PCDGB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	2149	+			UPI00000739DC	631			Extracellular (Potential).|Cadherin 6.		SNV	PCDHGA11,missense_variant,p.Arg631Trp,ENST00000398587,NM_032092.1,NM_018914.2;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGA10,intron_variant,,ENST00000398610,NM_018913.2,NM_032090.1;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2,NM_032089.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.2;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2,NM_032086.1;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,NM_032096.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGB6,intron_variant,,ENST00000520790,NM_018926.2,NM_032100.1;PCDHGB7,intron_variant,,ENST00000398594,NM_018927.3;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2,NM_018925.2,NM_032098.1;PCDHGA11,intron_variant,,ENST00000518882,;PCDHGB8P,upstream_gene_variant,,ENST00000502926,;PCDHGB8P,upstream_gene_variant,,ENST00000507007,;	uc003lkq.1	c.1891C>T	1924/3936	1	1			c.1891C>T						5	SNP	c.(1891-1893)CGG>TGG	3	3				0	Broad	protocadherin gamma subfamily A, 11 isoform 1			140802685		0.687	ENSG00000253873	11360	g.chr5:140802685C>T	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							81.616221	KEEP	14	21	-1	17	19	14	21	-1	81.630492	17	19	0.516667	1	0	0	0	0	1	0	0	0	--	--		0	T			PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.R631W|PCDHGA11_uc003lkp.1_Intron	196	GBM-27-1837-TP	p.R631W	C	GCGTACAGCGCGGGCACTGCT	NM_018914	NP_061737	140802685	Q9Y5H2	PCDGB_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2149	+	T	T			Missense_Mutation	631			Extracellular (Potential).|Cadherin 6.			
PCDHGA12	26025	broad.mit.edu	GRCh37	5	140810513	140810513	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0128-01	TCGA-06-0128-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252085.3:c.187G>A	p.Gly63Arg	p.G63R	ENST00000252085	NM_003735.2	63	Gga/Aga	0			1			A	G/R	uc003lkt.1	protein_coding	YES	CCDS4260.1			187/2799									ovary(2)|pancreas(1)|skin(1)	4	c.(187-189)GGA>AGA			Gene3D:2.60.40.60,Pfam_domain:PF08266,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF85,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin gamma subfamily A, 12 isoform 1				ENSP00000252085		4-Jan									COSM3409946,COSM3409947	4-Jan	.		ENST00000252085	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000253159	g.chr5:140810513G>A	8699			MODERATE		1.19	low	getma.org/?cm=msa&ty=f&p=PCDGC_HUMAN&rb=29&re=112&var=G63R	getma.org/pdb.php?prot=PCDGC_HUMAN&from=29&to=112&var=G63R	getma.org/?cm=var&var=hg19,5,140810513,G,A&fts=all	G63R	--	--	1																																		PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.G63R	1,1	1		possibly_damaging(0.665)	p.G63R	NM_003735	NP_003726		tolerated_low_confidence(0.1)	1,1	PCDGC_HUMAN	PCDHGA12	HGNC	O60330	PCDGC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	356	+			UPI0000073EA1	63			Cadherin 1.|Extracellular (Potential).		SNV	PCDHGA12,missense_variant,p.Gly63Arg,ENST00000252085,NM_003735.2,NM_032094.1;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGA10,intron_variant,,ENST00000398610,NM_018913.2,NM_032090.1;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2,NM_032086.1;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.2;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2,NM_032089.1;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,NM_032096.1;PCDHGB6,intron_variant,,ENST00000520790,NM_018926.2,NM_032100.1;PCDHGB7,intron_variant,,ENST00000398594,NM_018927.3;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2,NM_018925.2,NM_032098.1;PCDHGA11,intron_variant,,ENST00000398587,NM_032092.1,NM_018914.2;PCDHGA11,intron_variant,,ENST00000518882,;PCDHGB8P,downstream_gene_variant,,ENST00000502926,;PCDHGB8P,downstream_gene_variant,,ENST00000507007,;	uc003lkt.1	c.187G>A	329/4747	2	2			c.187G>A						5	SNP	c.(187-189)GGA>AGA	17	17			ovary(2)|pancreas(1)|skin(1)	4	Broad	protocadherin gamma subfamily A, 12 isoform 1			140810513		0.652	ENSG00000253159	11361	g.chr5:140810513G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							-39.295191	KEEP	5	0	-1	105	104	5	0	-1	8.73007	105	104	0.025907	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.G63R	14	GBM-06-0128-TP	p.G63R	G	CGCGGAGCGCGGAGTCCGCAT	NM_003735	NP_003726	140810513	O60330	PCDGC_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	356	+	A	A			Missense_Mutation	63			Cadherin 1.|Extracellular (Potential).			
PCDHGA2	56113	broad.mit.edu	GRCh37	5	140719925	140719925	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0219-01	TCGA-06-0219-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394576.2:c.1387G>A	p.Glu463Lys	p.E463K	ENST00000394576	NM_018915.2	463	Gaa/Aaa	0			1			A	E/K	uc003ljk.1	protein_coding	YES	CCDS47289.1			1387/2799									skin(2)|ovary(1)	3	c.(1387-1389)GAA>AAA			Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF109,Superfamily_domains:SSF49313	protocadherin gamma subfamily A, 2 isoform 1				ENSP00000378077		4-Jan									COSM1165426,COSM1165425	4-Jan	.		ENST00000394576	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000081853	g.chr5:140719925G>A	8700			MODERATE		4.955	high	getma.org/?cm=msa&ty=f&p=PCDG2_HUMAN&rb=457&re=553&var=E463K	getma.org/pdb.php?prot=PCDG2_HUMAN&from=457&to=553&var=E463K	getma.org/?cm=var&var=hg19,5,140719925,G,A&fts=all	E463K			1																																		PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.E463K	1,1	1		probably_damaging(1)	p.E463K	NM_018915	NP_061738		deleterious_low_confidence(0)	1,1	PCDG2_HUMAN	PCDHGA2	HGNC	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	1572	+			UPI0000072E67	463			Extracellular (Potential).|Cadherin 5.		SNV	PCDHGA2,missense_variant,p.Glu463Lys,ENST00000394576,NM_018915.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA3,upstream_gene_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA2,non_coding_transcript_exon_variant,,ENST00000528330,;	uc003ljk.1	c.1387G>A	1387/4605	2	2			c.1387G>A						5	SNP	c.(1387-1389)GAA>AAA	42	42			skin(2)|ovary(1)	3	Broad	protocadherin gamma subfamily A, 2 isoform 1			140719925		0.562	ENSG00000081853	11362	g.chr5:140719925G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							107.111097	KEEP	26	15	-1	50	40	26	15	-1	109.551135	50	40	0.342342	1	0	0	0	0	1	0	0	0				0	A			PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.E463K	52	GBM-06-0219-TP	p.E463K	G	CTACATTCCCGAAAACAACCC	NM_018915	NP_061738	140719925	Q9Y5H1	PCDG2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1572	+	A	A			Missense_Mutation	463			Extracellular (Potential).|Cadherin 5.			
PCDHGA2	56113	broad.mit.edu	GRCh37	5	140720885	140720885	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0238-01	TCGA-06-0238-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394576.2:c.2347G>A	p.Glu783Lys	p.E783K	ENST00000394576	NM_018915.2	783	Gag/Aag	0			1			A	E/K	uc003ljk.1	protein_coding	YES	CCDS47289.1			2347/2799									skin(2)|ovary(1)	3	c.(2347-2349)GAG>AAG			hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF109	protocadherin gamma subfamily A, 2 isoform 1				ENSP00000378077		4-Jan									COSM1696431,COSM1696430	4-Jan	.		ENST00000394576	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000081853	g.chr5:140720885G>A	8700			MODERATE		3.02	medium	getma.org/?cm=msa&ty=f&p=PCDG2_HUMAN&rb=666&re=865&var=E783K	NA	getma.org/?cm=var&var=hg19,5,140720885,G,A&fts=all	E783K	--	--	1																																		PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Missense_Mutation_p.E783K|PCDHGA3_uc011dap.1_5'Flank	1,1	1		benign(0.178)	p.E783K	NM_018915	NP_061738		deleterious_low_confidence(0)	1,1	PCDG2_HUMAN	PCDHGA2	HGNC	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	2532	+			UPI0000072E67	783			Cytoplasmic (Potential).		SNV	PCDHGA2,missense_variant,p.Glu783Lys,ENST00000394576,NM_018915.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA3,upstream_gene_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA2,non_coding_transcript_exon_variant,,ENST00000528330,;	uc003ljk.1	c.2347G>A	2347/4605	2	2			c.2347G>A						5	SNP	c.(2347-2349)GAG>AAG	30	30			skin(2)|ovary(1)	3	Broad	protocadherin gamma subfamily A, 2 isoform 1			140720885		0.488	ENSG00000081853	11362	g.chr5:140720885G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							165.373935	KEEP	28	45	-1	92	71	28	45	-1	171.381331	92	71	0.31016	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Missense_Mutation_p.E783K|PCDHGA3_uc011dap.1_5'Flank	55	GBM-06-0238-TP	p.E783K	G	CATCAGCCAGGAGAGCTGTGA	NM_018915	NP_061738	140720885	Q9Y5H1	PCDG2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2532	+	A	A			Missense_Mutation	783			Cytoplasmic (Potential).			
PCDHGA2	56113	broad.mit.edu	GRCh37	5	140720392	140720392	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0881-01	TCGA-06-0881-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394576.2:c.1854G>A	p.Ser618=	p.S618=	ENST00000394576	NM_018915.2	618	tcG/tcA	0			1			A	S	uc003ljk.1	protein_coding	YES	CCDS47289.1			1854/2799									skin(2)|ovary(1)	3	c.(1852-1854)TCG>TCA			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF109,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin gamma subfamily A, 2 isoform 1				ENSP00000378077		4-Jan									COSM3409897,COSM3409896	4-Jan	.		ENST00000394576	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000081853	g.chr5:140720392G>A	8700			LOW								--	--	1																																		PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.S618S	1,1	1			p.S618S	NM_018915	NP_061738			1,1	PCDG2_HUMAN	PCDHGA2	HGNC	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	2039	+			UPI0000072E67	618			Extracellular (Potential).|Cadherin 6.		SNV	PCDHGA2,synonymous_variant,p.=,ENST00000394576,NM_018915.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA3,upstream_gene_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA2,non_coding_transcript_exon_variant,,ENST00000528330,;	uc003ljk.1	c.1854G>A	1854/4605	2	2			c.1854G>A						5	SNP	c.(1852-1854)TCG>TCA	33	33			skin(2)|ovary(1)	3	Broad	protocadherin gamma subfamily A, 2 isoform 1			140720392		0.677	ENSG00000081853	11362	g.chr5:140720392G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							-28.970997	KEEP	4	5	-1	146	118	4	5	-1	14.848746	146	118	0.037037	1	0	0	0	0	0	0	1	0	--	--		0	A			PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.S618S	76	GBM-06-0881-TP	p.S618S	G	GACTCTTCTCGGTGGGTCTGC	NM_018915	NP_061738	140720392	Q9Y5H1	PCDG2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2039	+	A	A			Silent	618			Extracellular (Potential).|Cadherin 6.			
PCDHGA2	0	broad.mit.edu	GRCh37	5	140720522	140720522	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394576.2:c.1984G>A	p.Val662Met	p.V662M	ENST00000394576	NM_018915.2	662	Gtg/Atg	0			1			A	V/M	uc003ljk.1	protein_coding	YES	CCDS47289.1			1984/2799									skin(2)|ovary(1)	3	c.(1984-1986)GTG>ATG			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF109,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin gamma subfamily A, 2 isoform 1				ENSP00000378077		4-Jan	1.65E-05			0.000116			0.00111		rs754195555,COSM3409899,COSM3409898	4-Jan	.		ENST00000394576	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000081853	g.chr5:140720522G>A	8700			MODERATE		3.385	medium	getma.org/?cm=msa&ty=f&p=PCDG2_HUMAN&rb=578&re=665&var=V662M	getma.org/pdb.php?prot=PCDG2_HUMAN&from=578&to=665&var=V662M	getma.org/?cm=var&var=hg19,5,140720522,G,A&fts=all	V662M	--	--	1																																		PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.V662M	0,1,1	1		possibly_damaging(0.737)	p.V662M	NM_018915	NP_061738		deleterious_low_confidence(0)	0,1,1	PCDG2_HUMAN	PCDHGA2	HGNC	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	2169	+			UPI0000072E67	662			Extracellular (Potential).|Cadherin 6.		SNV	PCDHGA2,missense_variant,p.Val662Met,ENST00000394576,NM_018915.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA3,upstream_gene_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA2,non_coding_transcript_exon_variant,,ENST00000528330,;	uc003ljk.1	c.1984G>A	1984/4605	2	2			c.1984G>A						5	SNP	c.(1984-1986)GTG>ATG	29	29			skin(2)|ovary(1)	3	Broad	protocadherin gamma subfamily A, 2 isoform 1			140720522		0.682	ENSG00000081853	11362	g.chr5:140720522G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							88.467298	KEEP	19	18	-1	42	69	19	18	-1	89.138962	42	69	0.39726	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.V662M	235	GBM-32-2491-TP	p.V662M	G	CACGCTCACCGTGGCCGTGGC	NM_018915	NP_061738	140720522	Q9Y5H1	PCDG2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2169	+	A	A			Missense_Mutation	662			Extracellular (Potential).|Cadherin 6.			
PCDHGA2	0	broad.mit.edu	GRCh37	5	140720558	140720558	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394576.2:c.2020G>A	p.Asp674Asn	p.D674N	ENST00000394576	NM_018915.2	674	Gac/Aac	0			1			A	D/N	uc003ljk.1	protein_coding	YES	CCDS47289.1			2020/2799									skin(2)|ovary(1)	3	c.(2020-2022)GAC>AAC			PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF109	protocadherin gamma subfamily A, 2 isoform 1				ENSP00000378077		4-Jan									COSM3409901,COSM3409900	4-Jan	.		ENST00000394576	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000081853	g.chr5:140720558G>A	8700			MODERATE		2.2	medium	getma.org/?cm=msa&ty=f&p=PCDG2_HUMAN&rb=570&re=682&var=D674N	NA	getma.org/?cm=var&var=hg19,5,140720558,G,A&fts=all	D674N	--	--	1																																		PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.D674N	1,1	1		benign(0.226)	p.D674N	NM_018915	NP_061738		deleterious_low_confidence(0.01)	1,1	PCDG2_HUMAN	PCDHGA2	HGNC	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	2205	+			UPI0000072E67	674			Extracellular (Potential).|Cadherin 6.		SNV	PCDHGA2,missense_variant,p.Asp674Asn,ENST00000394576,NM_018915.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA3,upstream_gene_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA2,non_coding_transcript_exon_variant,,ENST00000528330,;	uc003ljk.1	c.2020G>A	2020/4605	2	2			c.2020G>A						5	SNP	c.(2020-2022)GAC>AAC	25	25			skin(2)|ovary(1)	3	Broad	protocadherin gamma subfamily A, 2 isoform 1			140720558		0.687	ENSG00000081853	11362	g.chr5:140720558G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							-14.963053	KEEP	1	3	-1	67	63	1	3	-1	8.386208	67	63	0.039216	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.D674N	235	GBM-32-2491-TP	p.D674N	G	CATCCTGGCCGACCTGGGCAG	NM_018915	NP_061738	140720558	Q9Y5H1	PCDG2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2205	+	A	A			Missense_Mutation	674			Extracellular (Potential).|Cadherin 6.			
PCDHGA2	0	broad.mit.edu	GRCh37	5	140719024	140719024	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-76-4932-01	TCGA-76-4932-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394576.2:c.486A>G	p.Val162=	p.V162=	ENST00000394576	NM_018915.2	162	gtA/gtG	0			1			G	V	uc003ljk.1	protein_coding	YES	CCDS47289.1			486/2799									skin(2)|ovary(1)	3	c.(484-486)GTA>GTG			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF109,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin gamma subfamily A, 2 isoform 1				ENSP00000378077		4-Jan									COSM3409893,COSM3409892	4-Jan	.		ENST00000394576	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000081853	g.chr5:140719024A>G	8700			LOW								--	--	1																																		PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.V162V	1,1	1			p.V162V	NM_018915	NP_061738			1,1	PCDG2_HUMAN	PCDHGA2	HGNC	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	671	+			UPI0000072E67	162			Extracellular (Potential).|Cadherin 2.		SNV	PCDHGA2,synonymous_variant,p.=,ENST00000394576,NM_018915.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA3,upstream_gene_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA2,non_coding_transcript_exon_variant,,ENST00000528330,;	uc003ljk.1	c.486A>G	486/4605	3	3			c.486A>G						5	SNP	c.(484-486)GTA>GTG	54	54			skin(2)|ovary(1)	3	Broad	protocadherin gamma subfamily A, 2 isoform 1			140719024		0.522	ENSG00000081853	11362	g.chr5:140719024A>G	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							-54.677685	KEEP	1	2	-1	113	135	1	2	-1	6.41001	113	135	0.013274	1	0	0	0	0	0	0	1	0	--	--		0	G			PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.V162V	271	GBM-76-4932-TP	p.V162V	A	ATGCAGACGTAGGTGAGAACG	NM_018915	NP_061738	140719024	Q9Y5H1	PCDG2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	671	+	G	G			Silent	162			Extracellular (Potential).|Cadherin 2.			
PCDHGA2	56113		GRCh37	5	140720777	140720777	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000394576.2:c.2239C>T	p.Arg747Trp	p.R747W	ENST00000394576	NM_018915.2	747	Cgg/Tgg	0																																																																																																																																																																																																																																												
PCDHGA3	56112	broad.mit.edu	GRCh37	5	140779096	140779096	+	intron_variant	Intron	SNP	G	G	A			TCGA-06-0174-01	TCGA-06-0174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000253812.6:c.2424+53072G>A		p.*808*	ENST00000253812	NM_018916.3			0			1			A		uc003lkf.1	protein_coding	YES	CCDS58980.1			-/2790										0	c.(1402-1404)GCG>ACG				protocadherin gamma subfamily B, 5 isoform 1				ENSP00000461862													.		ENST00000576222	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000262209	g.chr5:140779096G>A	8710			MODIFIER	3-Jan	0.18	neutral	getma.org/?cm=msa&ty=f&p=PCDGH_HUMAN&rb=453&re=549&var=A468T	getma.org/pdb.php?prot=PCDGH_HUMAN&from=453&to=549&var=A468T	getma.org/?cm=var&var=hg19,5,140779096,G,A&fts=all	A468T	--	--	1																																		PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.A468T		1			p.A468T	NM_018925	NP_061748				PCDGF_HUMAN	PCDHGB3	HGNC	Q9Y5G0	PCDGH_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	1402	+			UPI000006FA6F	468			Extracellular (Potential).|Cadherin 5.		SNV	PCDHGB3,intron_variant,,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.2;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2,NM_032086.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,NM_032096.1;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2,NM_018925.2,NM_032098.1;PCDHGA9,upstream_gene_variant,,ENST00000573521,NM_018921.2,NM_032089.1;	uc003lkf.1	c.1402G>A	-/4727	2	2			c.1402G>A						5	SNP	c.(1402-1404)GCG>ACG	24	24				0	Broad	protocadherin gamma subfamily B, 5 isoform 1			140779096		0.567	ENSG00000262209	11374	g.chr5:140779096G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							113.81884	KEEP	22	22	-1	29	22	22	22	-1	114.020403	29	22	0.448276	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.A468T	37	GBM-06-0174-TP	p.A468T	G	GGCCTCCATCGCGCAAGTCTG	NM_018925	NP_061748	140779096	Q9Y5G0	PCDGH_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1402	+	A	A			Missense_Mutation	468			Extracellular (Potential).|Cadherin 5.			
PCDHGA3	0	broad.mit.edu	GRCh37	5	140724302	140724302	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-41-2575-01	TCGA-41-2575-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000253812.6:c.702T>G	p.Asp234Glu	p.D234E	ENST00000253812	NM_018916.3	234	gaT/gaG	0			1			G	D/E	uc003ljm.1	protein_coding	YES	CCDS47290.1			702/2799									breast(1)	1	c.(700-702)GAT>GAG			Gene3D:2.60.40.60,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF75,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin gamma subfamily A, 3 isoform 1				ENSP00000253812		4-Jan									COSM3409903,COSM3409902	4-Jan	.		ENST00000253812	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000254245	g.chr5:140724302T>G	8701			MODERATE		4.95	high	getma.org/?cm=msa&ty=f&p=PCDG3_HUMAN&rb=134&re=242&var=D234E	getma.org/pdb.php?prot=PCDG3_HUMAN&from=134&to=242&var=D234E	getma.org/?cm=var&var=hg19,5,140724302,T,G&fts=all	D234E	1.95	medium	1																																		PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.D234E	1,1	1		probably_damaging(1)	p.D234E	NM_018916	NP_061739		deleterious_low_confidence(0)	1,1	PCDG3_HUMAN	PCDHGA3	HGNC	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	702	+			UPI0000161C1A	234			Extracellular (Potential).|Cadherin 2.		SNV	PCDHGA3,missense_variant,p.Asp234Glu,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA2,downstream_gene_variant,,ENST00000528330,;	uc003ljm.1	c.702T>G	702/4605	3	3			c.702T>G						5	SNP	c.(700-702)GAT>GAG	56	56			breast(1)	1	Broad	protocadherin gamma subfamily A, 3 isoform 1			140724302		0.527	ENSG00000254245	11363	g.chr5:140724302T>G	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							147.097119	KEEP	21	21	-1	30	21	21	21	-1	147.294136	30	21	0.449438	1	0	0	0	0	1	0	0	0	1.95	medium		0	G			PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.D234E	253	GBM-41-2575-TP	p.D234E	T	TAGTCCTGGATGCAAATGACA	NM_018916	NP_061739	140724302	Q9Y5H0	PCDG3_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	702	+	G	G			Missense_Mutation	234			Extracellular (Potential).|Cadherin 2.			
PCDHGA3	56112		GRCh37	5	140725076	140725076	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000253812.6:c.1476C>T	p.Thr492=	p.T492=	ENST00000253812	NM_018916.3	492	acC/acT	0																																																																																																																																																																																																																																												
PCDHGA3	56112		GRCh37	5	140778096	140778096	+	intron_variant	Intron	SNP	G	G	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000253812.6:c.2424+52072G>A		p.*808*	ENST00000253812	NM_018916.3			0																																																																																																																																																																																																																																												
PCDHGA4	56111		GRCh37	5	140736994	140736994	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000571252.1:c.2227G>A	p.Val743Met	p.V743M	ENST00000571252	NM_018917.2	743	Gtg/Atg	0																																																																																																																																																																																																																																												
PCDHGA5	56110	broad.mit.edu	GRCh37	5	140745008	140745008	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000518069.1:c.1111G>A	p.Val371Ile	p.V371I	ENST00000518069	NM_018918.2	371	Gta/Ata	0			1			A	V/I	uc003lju.1	protein_coding	YES	CCDS54925.1			1111/2796									ovary(4)	4	c.(1111-1113)GTA>ATA			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF105,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin gamma subfamily A, 5 isoform 1				ENSP00000429834		4-Jan	8.27E-06							6.06E-05	rs749640886,COSM3409917,COSM3409916	4-Jan	.		ENST00000518069	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000253485	g.chr5:140745008G>A	8703			MODERATE		2.08	medium	getma.org/?cm=msa&ty=f&p=PCDG5_HUMAN&rb=352&re=443&var=V371I	NA	getma.org/?cm=var&var=hg19,5,140745008,G,A&fts=all	V371I	--	--	1																																		PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.V371I	0,1,1	1		possibly_damaging(0.665)	p.V371I	NM_018918	NP_061741		deleterious_low_confidence(0.03)	0,1,1	PCDG5_HUMAN	PCDHGA5	HGNC	Q9Y5G8	PCDG5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	1111	+			UPI000006CD9F	371			Cadherin 4.|Extracellular (Potential).		SNV	PCDHGA5,missense_variant,p.Val371Ile,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,NM_032096.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGB3,upstream_gene_variant,,ENST00000576222,NM_018924.2,NM_032097.1;	uc003lju.1	c.1111G>A	1111/4602	2	2			c.1111G>A						5	SNP	c.(1111-1113)GTA>ATA	33	33			ovary(4)	4	Broad	protocadherin gamma subfamily A, 5 isoform 1			140745008		0.443	ENSG00000253485	11365	g.chr5:140745008G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							99.485259	KEEP	19	22	-1	49	40	19	22	-1	103.268909	49	40	0.307018	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.V371I	26	GBM-06-0154-TP	p.V371I	G	GCTGTTTAGCGTACATGATGG	NM_018918	NP_061741	140745008	Q9Y5G8	PCDG5_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1111	+	A	A			Missense_Mutation	371			Cadherin 4.|Extracellular (Potential).			
PCDHGA6	0	broad.mit.edu	GRCh37	5	140754770	140754770	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5952-01	TCGA-19-5952-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000517434.1:c.1120C>T	p.Arg374Ter	p.R374*	ENST00000517434	NM_018919.2	374	Cga/Tga	0			1			T	R/*	uc003ljy.1	protein_coding	YES	CCDS54926.1			1120/2799									breast(1)	1	c.(1120-1122)CGA>TGA			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF107,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin gamma subfamily A, 6 isoform 1				ENSP00000429601		4-Jan									COSM3409930,COSM1434457	4-Jan	.		ENST00000517434	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000253731	g.chr5:140754770C>T	8704			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,5,140754770,C,T&fts=all	R374*	--	--	1																																		PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Nonsense_Mutation_p.R374*	1,1	1			p.R374*	NM_018919	NP_061742			1,1	PCDG6_HUMAN	PCDHGA6	HGNC	Q9Y5G7	PCDG6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	1120	+			UPI00000715C8	374			Cadherin 4.|Extracellular (Potential).		SNV	PCDHGA6,stop_gained,p.Arg374Ter,ENST00000517434,NM_018919.2,NM_032086.1;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,NM_032096.1;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;	uc003ljy.1	c.1120C>T	1120/4605	5	2			c.1120C>T						5	SNP	c.(1120-1122)CGA>TGA	26	26			breast(1)	1	Broad	protocadherin gamma subfamily A, 6 isoform 1			140754770		0.428	ENSG00000253731	11366	g.chr5:140754770C>T	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							109.413639	KEEP	16	25	-1	45	40	16	25	-1	112.862438	45	40	0.319328	1	0	0	0	0	0	1	0	0	--	--		0	T			PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Nonsense_Mutation_p.R374*	172	GBM-19-5952-TP	p.R374*	C	AGTGTTCGATCGAGACTCTGG	NM_018919	NP_061742	140754770	Q9Y5G7	PCDG6_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1120	+	T	T			Nonsense_Mutation	374			Cadherin 4.|Extracellular (Potential).			
PCDHGA6	56109		GRCh37	5	140755737	140755737	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000517434.1:c.2087C>T	p.Ala696Val	p.A696V	ENST00000517434	NM_018919.2	696	gCg/gTg	0																																																																																																																																																																																																																																												
PCDHGA7	0	broad.mit.edu	GRCh37	5	140763059	140763059	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-2571-01	TCGA-41-2571-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000518325.1:c.593G>A	p.Arg198Gln	p.R198Q	ENST00000518325	NM_018920.2	198	cGg/cAg	0			1			A	R/Q	uc003lka.1	protein_coding	YES	CCDS54927.1			593/2799										0	c.(592-594)CGG>CAG			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF56,Low_complexity_(Seg):seg,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin gamma subfamily A, 7 isoform 1				ENSP00000430024		4-Jan									COSM3409933	4-Jan	.		ENST00000518325	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000253537	g.chr5:140763059G>A	8705			MODERATE		1.19	low	getma.org/?cm=msa&ty=f&p=PCDG7_HUMAN&rb=138&re=233&var=R198Q	getma.org/pdb.php?prot=PCDG7_HUMAN&from=138&to=233&var=R198Q	getma.org/?cm=var&var=hg19,5,140763059,G,A&fts=all	R198Q	--	--	1																																		PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.R198Q	1	1		benign(0.025)	p.R198Q	NM_018920	NP_061743		tolerated_low_confidence(0.25)	1	PCDG7_HUMAN	PCDHGA7	HGNC	Q9Y5G6	PCDG7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	593	+			UPI000007146F	198			Extracellular (Potential).|Cadherin 2.		SNV	PCDHGA7,missense_variant,p.Arg198Gln,ENST00000518325,NM_018920.2;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2,NM_032086.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,NM_032096.1;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGB4,upstream_gene_variant,,ENST00000519479,NM_003736.2,NM_018925.2,NM_032098.1;	uc003lka.1	c.593G>A	593/4605	1	1			c.593G>A						5	SNP	c.(592-594)CGG>CAG	49	49				0	Broad	protocadherin gamma subfamily A, 7 isoform 1			140763059		0.622	ENSG00000253537	11367	g.chr5:140763059G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							36.494062	KEEP	5	9	-1	12	11	5	9	-1	36.83994	12	11	0.387097	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.R198Q	250	GBM-41-2571-TP	p.R198Q	G	GTGCTGGAGCGGGTGCTGGAC	NM_018920	NP_061743	140763059	Q9Y5G6	PCDG7_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	593	+	A	A			Missense_Mutation	198			Extracellular (Potential).|Cadherin 2.			
PCDHGA8	9708	broad.mit.edu	GRCh37	5	140774103	140774103	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01	TCGA-02-0047-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398604.2:c.1723G>A	p.Val575Met	p.V575M	ENST00000398604	NM_032088.1	575	Gtg/Atg	0			1			A	V/M	uc003lkd.1	protein_coding	YES	CCDS47291.1			1723/2799										0	c.(1723-1725)GTG>ATG			hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF72,Superfamily_domains:SSF49313	protocadherin gamma subfamily A, 8 isoform 1				ENSP00000381605		4-Jan									COSM2149022	4-Jan	.		ENST00000398604	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000253767	g.chr5:140774103G>A	8706			MODERATE		1.54	low	getma.org/?cm=msa&ty=f&p=PCDG8_HUMAN&rb=570&re=682&var=V575M	NA	getma.org/?cm=var&var=hg19,5,140774103,G,A&fts=all	V575M	--	--	1																																		PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.V575M	1	1		benign(0.317)	p.V575M	NM_032088	NP_114477		deleterious_low_confidence(0.04)	1	PCDG8_HUMAN	PCDHGA8	HGNC	Q9Y5G5	PCDG8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	2621	+			UPI000006FC06	575			Extracellular (Potential).|Cadherin 6.		SNV	PCDHGA8,missense_variant,p.Val575Met,ENST00000398604,NM_032088.1;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.2;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2,NM_032086.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,NM_032096.1;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2,NM_018925.2,NM_032098.1;	uc003lkd.1	c.1723G>A	1723/4605	1	1			c.1723G>A						5	SNP	c.(1723-1725)GTG>ATG	57	57				0	Broad	protocadherin gamma subfamily A, 8 isoform 1			140774103		0.657	ENSG00000253767	11368	g.chr5:140774103G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							199.0014	KEEP	36	55	-1	135	145	36	55	-1	215.051397	135	145	0.261981	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.V575M	3	GBM-02-0047-TP	p.V575M	G	TTCCACTGGCGTGGAGCTGGC	NM_032088	NP_114477	140774103	Q9Y5G5	PCDG8_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2621	+	A	A			Missense_Mutation	575			Extracellular (Potential).|Cadherin 6.			
PCDHGA8	0	broad.mit.edu	GRCh37	5	140773167	140773167	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-5207-01	TCGA-28-5207-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398604.2:c.787A>G	p.Thr263Ala	p.T263A	ENST00000398604	NM_032088.1	263	Act/Gct	0			1			G	T/A	uc003lkd.1	protein_coding	YES	CCDS47291.1			787/2799										0	c.(787-789)ACT>GCT			Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF72,Superfamily_domains:SSF49313	protocadherin gamma subfamily A, 8 isoform 1				ENSP00000381605		4-Jan									COSM3409939	4-Jan	.		ENST00000398604	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000253767	g.chr5:140773167A>G	8706			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=PCDG8_HUMAN&rb=247&re=338&var=T263A	getma.org/pdb.php?prot=PCDG8_HUMAN&from=247&to=338&var=T263A	getma.org/?cm=var&var=hg19,5,140773167,A,G&fts=all	T263A	--	--	1																																		PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.T263A	1	1		benign(0.064)	p.T263A	NM_032088	NP_114477		deleterious_low_confidence(0.05)	1	PCDG8_HUMAN	PCDHGA8	HGNC	Q9Y5G5	PCDG8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	1685	+			UPI000006FC06	263			Cadherin 3.|Extracellular (Potential).		SNV	PCDHGA8,missense_variant,p.Thr263Ala,ENST00000398604,NM_032088.1;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2,NM_032086.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.2;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,NM_032096.1;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2,NM_018925.2,NM_032098.1;	uc003lkd.1	c.787A>G	787/4605	4	4			c.787A>G						5	SNP	c.(787-789)ACT>GCT	32	32				0	Broad	protocadherin gamma subfamily A, 8 isoform 1			140773167		0.473	ENSG00000253767	11368	g.chr5:140773167A>G	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							-16.792193	KEEP	6	6	-1	91	96	6	6	-1	20.266076	91	96	0.05618	1	0	0	0	0	1	0	0	0	--	--		0	G			PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.T263A	216	GBM-28-5207-TP	p.T263A	A	GCGGCTGCTTACTGTAACAGC	NM_032088	NP_114477	140773167	Q9Y5G5	PCDG8_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1685	+	G	G			Missense_Mutation	263			Cadherin 3.|Extracellular (Potential).			
PCDHGA8	0	broad.mit.edu	GRCh37	5	140774370	140774370	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs143444747	by1000genomes	TCGA-32-5222-01	TCGA-32-5222-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398604.2:c.1990G>A	p.Val664Met	p.V664M	ENST00000398604	NM_032088.1	664	Gtg/Atg	0		A:0.0015	1	A:0		A	V/M	uc003lkd.1	protein_coding	YES	CCDS47291.1			1990/2799										0	c.(1990-1992)GTG>ATG			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF72,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin gamma subfamily A, 8 isoform 1		A:0		ENSP00000381605	A:0	4-Jan	2.47E-05	0.000203		0.000116					rs143444747,COSM3409940	4-Jan	.		ENST00000398604	Transcript		A:0.0004	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000253767	g.chr5:140774370G>A	8706			MODERATE		3.555	high	getma.org/?cm=msa&ty=f&p=PCDG8_HUMAN&rb=579&re=665&var=V664M	getma.org/pdb.php?prot=PCDG8_HUMAN&from=579&to=665&var=V664M	getma.org/?cm=var&var=hg19,5,140774370,G,A&fts=all	V664M	5.18	high	1																																		PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.V664M	0,1	1		possibly_damaging(0.694)	p.V664M	NM_032088	NP_114477	A:0	deleterious_low_confidence(0.03)	0,1	PCDG8_HUMAN	PCDHGA8	HGNC	Q9Y5G5	PCDG8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	2888	+			UPI000006FC06	664			Extracellular (Potential).|Cadherin 6.		SNV	PCDHGA8,missense_variant,p.Val664Met,ENST00000398604,NM_032088.1;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.2;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2,NM_032086.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,NM_032096.1;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2,NM_018925.2,NM_032098.1;	uc003lkd.1	c.1990G>A	1990/4605	2	2			c.1990G>A						5	SNP	c.(1990-1992)GTG>ATG	41	41				0	Broad	protocadherin gamma subfamily A, 8 isoform 1			140774370		0.627	ENSG00000253767	11368	g.chr5:140774370G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							96.05922	KEEP	21	22	-1	19	36	21	22	-1	96.206048	19	36	0.452055	1	0	0	0	0	1	0	0	0	5.18	high		0	A			PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.V664M	249	GBM-32-5222-TP	p.V664M	G	CACCGTAGCCGTGGCTGACAG	NM_032088	NP_114477	140774370	Q9Y5G5	PCDG8_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2888	+	A	A			Missense_Mutation	664			Extracellular (Potential).|Cadherin 6.			
PCDHGA8	9708		GRCh37	5	140774290	140774290	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000398604.2:c.1910C>T	p.Ala637Val	p.A637V	ENST00000398604	NM_032088.1	637	gCg/gTg	0																																																																																																																																																																																																																																												
PCDHGA9	56107	broad.mit.edu	GRCh37	5	140782948	140782948	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0879-01	TCGA-06-0879-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000573521.1:c.429C>T	p.Asn143=	p.N143=	ENST00000573521	NM_018921.2	143	aaC/aaT	0			1			T	N	uc003lkh.1	protein_coding	YES	CCDS58981.1			429/2799										0	c.(427-429)AAC>AAT			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF86,Superfamily_domains:SSF49313	protocadherin gamma subfamily A, 9 isoform 1				ENSP00000460274		4-Jan									COSM1595069,COSM1595070	4-Jan	.		ENST00000573521	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000261934	g.chr5:140782948C>T	8707			LOW								--	--	1																																		PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Silent_p.N143N	1,1	1			p.N143N	NM_018921	NP_061744			1,1	PCDG9_HUMAN	PCDHGA9	HGNC	Q9Y5G4	PCDG9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	429	+			UPI00000721C3	143			Extracellular (Potential).|Cadherin 2.		SNV	PCDHGA9,synonymous_variant,p.=,ENST00000573521,NM_018921.2,NM_032089.1;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.2;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2,NM_032086.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,NM_032096.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2,NM_018925.2,NM_032098.1;PCDHGB6,upstream_gene_variant,,ENST00000520790,NM_018926.2,NM_032100.1;	uc003lkh.1	c.429C>T	429/4605	2	2			c.429C>T						5	SNP	c.(427-429)AAC>AAT	26	26				0	Broad	protocadherin gamma subfamily A, 9 isoform 1			140782948		0.473	ENSG00000261934	11369	g.chr5:140782948C>T	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							169.1321	KEEP	32	31	-1	46	59	32	31	-1	170.994338	46	59	0.381579	1	0	0	0	0	0	0	1	0	--	--		0	T			PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Silent_p.N143N	75	GBM-06-0879-TP	p.N143N	C	TAAAAATTAACGAAATCGCGG	NM_018921	NP_061744	140782948	Q9Y5G4	PCDG9_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	429	+	T	T			Silent	143			Extracellular (Potential).|Cadherin 2.			
PCDHGA9	0	broad.mit.edu	GRCh37	5	140782734	140782734	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01	TCGA-14-0740-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000573521.1:c.215C>T	p.Thr72Met	p.T72M	ENST00000573521	NM_018921.2	72	aCg/aTg	0			1			T	T/M	uc003lkh.1	protein_coding	YES	CCDS58981.1			215/2799										0	c.(214-216)ACG>ATG			Gene3D:2.60.40.60,Pfam_domain:PF08266,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF86,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin gamma subfamily A, 9 isoform 1				ENSP00000460274		4-Jan									COSM1663389,COSM1663388	4-Jan	.		ENST00000573521	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000261934	g.chr5:140782734C>T	8707			MODERATE		1.835	low	getma.org/?cm=msa&ty=f&p=PCDG9_HUMAN&rb=29&re=112&var=T72M	getma.org/pdb.php?prot=PCDG9_HUMAN&from=29&to=112&var=T72M	getma.org/?cm=var&var=hg19,5,140782734,C,T&fts=all	T72M	--	--	1																																		PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.T72M	1,1	1		possibly_damaging(0.458)	p.T72M	NM_018921	NP_061744		tolerated_low_confidence(0.07)	1,1	PCDG9_HUMAN	PCDHGA9	HGNC	Q9Y5G4	PCDG9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	215	+			UPI00000721C3	72			Cadherin 1.|Extracellular (Potential).		SNV	PCDHGA9,missense_variant,p.Thr72Met,ENST00000573521,NM_018921.2,NM_032089.1;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.2;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2,NM_032086.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,NM_032096.1;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2,NM_018925.2,NM_032098.1;	uc003lkh.1	c.215C>T	215/4605	2	2			c.215C>T						5	SNP	c.(214-216)ACG>ATG	47	47				0	Broad	protocadherin gamma subfamily A, 9 isoform 1			140782734		0.622	ENSG00000261934	11369	g.chr5:140782734C>T	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							75.938733	KEEP	20	18	-1	47	38	20	18	-1	79.960507	47	38	0.296296	1	0	0	0	0	1	0	0	0	--	--		0	T			PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.T72M	132	GBM-14-0740-TP	p.T72M	C	AGAGGTAGGACGCAGCTTTTC	NM_018921	NP_061744	140782734	Q9Y5G4	PCDG9_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	215	+	T	T			Missense_Mutation	72			Cadherin 1.|Extracellular (Potential).			
PCDHGA9	0	broad.mit.edu	GRCh37	5	140783915	140783915	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5214-01	TCGA-28-5214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000573521.1:c.1396G>A	p.Ala466Thr	p.A466T	ENST00000573521	NM_018921.2	466	Gcc/Acc	0	T:0.0003		1			A	A/T	uc003lkh.1	protein_coding	YES	CCDS58981.1			1396/2799										0	c.(1396-1398)GCC>ACC			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF86,Superfamily_domains:SSF49313	protocadherin gamma subfamily A, 9 isoform 1			T:0	ENSP00000460274		4-Jan	8.27E-06			0.000116					rs370966293,COSM3409942,COSM3409941	4-Jan	.		ENST00000573521	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000261934	g.chr5:140783915G>A	8707			MODERATE		1.295	low	getma.org/?cm=msa&ty=f&p=PCDG9_HUMAN&rb=457&re=553&var=A466T	getma.org/pdb.php?prot=PCDG9_HUMAN&from=457&to=553&var=A466T	getma.org/?cm=var&var=hg19,5,140783915,G,A&fts=all	A466T	--	--	1																																		PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.A466T	0,1,1	1		benign(0.088)	p.A466T	NM_018921	NP_061744		deleterious_low_confidence(0.01)	0,1,1	PCDG9_HUMAN	PCDHGA9	HGNC	Q9Y5G4	PCDG9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	1396	+			UPI00000721C3	466			Extracellular (Potential).|Cadherin 5.		SNV	PCDHGA9,missense_variant,p.Ala466Thr,ENST00000573521,NM_018921.2,NM_032089.1;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2,NM_032086.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.2;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,NM_032096.1;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2,NM_018925.2,NM_032098.1;PCDHGB6,upstream_gene_variant,,ENST00000520790,NM_018926.2,NM_032100.1;	uc003lkh.1	c.1396G>A	1396/4605	1	1			c.1396G>A						5	SNP	c.(1396-1398)GCC>ACC	53	53				0	Broad	protocadherin gamma subfamily A, 9 isoform 1			140783915		0.468	ENSG00000261934	11369	g.chr5:140783915G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							86.533954	KEEP	16	24	-1	52	26	16	24	-1	89.622391	52	26	0.317308	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.A466T	221	GBM-28-5214-TP	p.A466T	G	GGAAAACAACGCCAGAGGTAC	NM_018921	NP_061744	140783915	Q9Y5G4	PCDG9_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1396	+	A	A			Missense_Mutation	466			Extracellular (Potential).|Cadherin 5.			
PCDHGB1	56104	broad.mit.edu	GRCh37	5	140730012	140730012	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5412-01	TCGA-06-5412-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000523390.1:c.185G>A	p.Arg62Gln	p.R62Q	ENST00000523390	NM_018922.2	62	cGa/cAa	0			1			A	R/Q	uc003ljo.1	protein_coding	YES	CCDS54923.1			185/2784										0	c.(184-186)CGA>CAA			Gene3D:2.60.40.60,Pfam_domain:PF08266,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF106,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin gamma subfamily B, 1 isoform 1				ENSP00000429273		4-Jan									COSM3381137,COSM3381136	4-Jan	.		ENST00000523390	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000254221	g.chr5:140730012G>A	8708			MODERATE		4.185	high	getma.org/?cm=msa&ty=f&p=PCDGD_HUMAN&rb=29&re=109&var=R62Q	getma.org/pdb.php?prot=PCDGD_HUMAN&from=29&to=109&var=R62Q	getma.org/?cm=var&var=hg19,5,140730012,G,A&fts=all	R62Q	--	--	1																																OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.R62Q	1,1	1		benign(0.272)	p.R62Q	NM_018922	NP_061745		deleterious(0.02)	1,1	PCDGD_HUMAN	PCDHGB1	HGNC	Q9Y5G3	PCDGD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	185	+			UPI0000073588	62			Cadherin 1.|Extracellular (Potential).		SNV	PCDHGB1,missense_variant,p.Arg62Gln,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA4,upstream_gene_variant,,ENST00000571252,NM_018917.2;	uc003ljo.1	c.185G>A	185/4590	2	2			c.185G>A						5	SNP	c.(184-186)CGA>CAA	24	24				0	Broad	protocadherin gamma subfamily B, 1 isoform 1			140730012		0.522	ENSG00000254221	11370	g.chr5:140730012G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							3.707785	KEEP	2	4	-1	21	38	2	4	-1	14.0621	21	38	0.095238	1	0	0	0	0	1	0	0	0	--	--		0	A	OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.R62Q	95	GBM-06-5412-TP	p.R62Q	G	TTGCCAACTCGAAAACTGCGG	NM_018922	NP_061745	140730012	Q9Y5G3	PCDGD_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	185	+	A	A			Missense_Mutation	62			Cadherin 1.|Extracellular (Potential).			
PCDHGB1	0	broad.mit.edu	GRCh37	5	140729895	140729896	+	frameshift_variant	Frame_Shift_Del	DEL	TC	TC	-			TCGA-26-5133-01	TCGA-26-5133-01	TC	TC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000523390.1:c.69_70delCT	p.Phe23LeufsTer44	p.F23Lfs*44	ENST00000523390	NM_018922.2	23	tTC/t	0			1			-	F/X	uc003ljo.1	protein_coding	YES	CCDS54923.1			68-69/2784										0	c.(67-69)TTCfs			hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF106,Cleavage_site_(Signalp):SignalP-noTM	protocadherin gamma subfamily B, 1 isoform 1				ENSP00000429273		4-Jan										4-Jan	.		ENST00000523390	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000254221	g.chr5:140729895_140729896delTC	8708	1		HIGH								--	--	1																																OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Frame_Shift_Del_p.F23fs		1			p.F23fs	NM_018922	NP_061745				PCDGD_HUMAN	PCDHGB1	HGNC	Q9Y5G3	PCDGD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	68_69	+			UPI0000073588	23					deletion	PCDHGB1,frameshift_variant,p.Phe23LeufsTer44,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA4,upstream_gene_variant,,ENST00000571252,NM_018917.2;	uc003ljo.1	c.68_69delTC	68-69/4590	5	5			c.68_69delTC						5	DEL	c.(67-69)TTCfs	8	8				0	Broad	protocadherin gamma subfamily B, 1 isoform 1			140729896		0.55	ENSG00000254221	11370	g.chr5:140729895_140729896delTC	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding																				0.82	1	1	0	1	0	0	0	0	0	--	--		0	-	OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Frame_Shift_Del_p.F23fs	182	GBM-26-5133-TP	p.F23fs	TC	CTGTCTTTGTTCTGCGGGGCCA	NM_018922	NP_061745	140729895	Q9Y5G3	PCDGD_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	68_69	+	-	-			Frame_Shift_Del	23						
PCDHGB1	0	broad.mit.edu	GRCh37	5	140730079	140730079	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-1970-01	TCGA-32-1970-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000523390.1:c.252C>T	p.Asn84=	p.N84=	ENST00000523390	NM_018922.2	84	aaC/aaT	0			1			T	N	uc003ljo.1	protein_coding	YES	CCDS54923.1			252/2784										0	c.(250-252)AAC>AAT			Gene3D:2.60.40.60,Pfam_domain:PF08266,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF106,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin gamma subfamily B, 1 isoform 1				ENSP00000429273		4-Jan									COSM302876,COSM302877	4-Jan	.		ENST00000523390	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000254221	g.chr5:140730079C>T	8708			LOW								--	--	1																																OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Silent_p.N84N	1,1	1			p.N84N	NM_018922	NP_061745			1,1	PCDGD_HUMAN	PCDHGB1	HGNC	Q9Y5G3	PCDGD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	252	+			UPI0000073588	84			Cadherin 1.|Extracellular (Potential).		SNV	PCDHGB1,synonymous_variant,p.=,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA4,upstream_gene_variant,,ENST00000571252,NM_018917.2;	uc003ljo.1	c.252C>T	252/4590	2	2			c.252C>T						5	SNP	c.(250-252)AAC>AAT	33	33				0	Broad	protocadherin gamma subfamily B, 1 isoform 1			140730079		0.473	ENSG00000254221	11370	g.chr5:140730079C>T	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							78.865728	KEEP	18	18	-1	35	36	18	18	-1	82.007659	35	36	0.304348	1	0	0	0	0	0	0	1	0	--	--		0	T	OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Silent_p.N84N	228	GBM-32-1970-TP	p.N84N	C	TGTTAGTGAACGGTAGGATAG	NM_018922	NP_061745	140730079	Q9Y5G3	PCDGD_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	252	+	T	T			Silent	84			Cadherin 1.|Extracellular (Potential).			
PCDHGB2	56103	broad.mit.edu	GRCh37	5	140741338	140741338	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01	TCGA-06-5414-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000522605.1:c.1636G>A	p.Val546Met	p.V546M	ENST00000522605	NM_018923.2	546	Gtg/Atg	0			1			A	V/M	uc003ljs.1	protein_coding	YES	CCDS54924.1			1636/2796										0	c.(1636-1638)GTG>ATG			Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF102,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin gamma subfamily B, 2 isoform 1				ENSP00000429018		4-Jan									COSM3409911,COSM3409910	4-Jan	.		ENST00000522605	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000253910	g.chr5:140741338G>A	8709			MODERATE		2.325	medium	getma.org/?cm=msa&ty=f&p=PCDGE_HUMAN&rb=457&re=553&var=V546M	getma.org/pdb.php?prot=PCDGE_HUMAN&from=457&to=553&var=V546M	getma.org/?cm=var&var=hg19,5,140741338,G,A&fts=all	V546M	--	--	1																																		PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.V546M|PCDHGA5_uc011das.1_5'Flank	1,1	1		possibly_damaging(0.805)	p.V546M	NM_018923	NP_061746		deleterious(0.02)	1,1	PCDGE_HUMAN	PCDHGB2	HGNC	Q9Y5G2	PCDGE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	1636	+			UPI000006EE67	546			Extracellular (Potential).|Cadherin 5.		SNV	PCDHGB2,missense_variant,p.Val546Met,ENST00000522605,NM_018923.2,NM_032096.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGA5,upstream_gene_variant,,ENST00000518069,NM_018918.2,NM_032054.1;	uc003ljs.1	c.1636G>A	1636/4602	1	1			c.1636G>A						5	SNP	c.(1636-1638)GTG>ATG	50	50				0	Broad	protocadherin gamma subfamily B, 2 isoform 1			140741338		0.682	ENSG00000253910	11371	g.chr5:140741338G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							96.19932	KEEP	20	15	-1	28	16	20	15	-1	96.491326	28	16	0.432432	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.V546M|PCDHGA5_uc011das.1_5'Flank	97	GBM-06-5414-TP	p.V546M	G	CAGCGCCAACGTGAGCCTGCG	NM_018923	NP_061746	140741338	Q9Y5G2	PCDGE_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1636	+	A	A			Missense_Mutation	546			Extracellular (Potential).|Cadherin 5.			
PCDHGB2	0	broad.mit.edu	GRCh37	5	140741377	140741377	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-5299-01	TCGA-12-5299-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000522605.1:c.1675G>A	p.Ala559Thr	p.A559T	ENST00000522605	NM_018923.2	559	Gcg/Acg	0			1			A	A/T	uc003ljs.1	protein_coding	YES	CCDS54924.1			1675/2796										0	c.(1675-1677)GCG>ACG			Gene3D:2.60.40.60,Prints_domain:PR00205,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF102,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313	protocadherin gamma subfamily B, 2 isoform 1				ENSP00000429018		4-Jan									COSM3409913,COSM3409912	4-Jan	.		ENST00000522605	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000253910	g.chr5:140741377G>A	8709			MODERATE		1.74	low	getma.org/?cm=msa&ty=f&p=PCDGE_HUMAN&rb=453&re=562&var=A559T	getma.org/pdb.php?prot=PCDGE_HUMAN&from=453&to=562&var=A559T	getma.org/?cm=var&var=hg19,5,140741377,G,A&fts=all	A559T	--	--	1																																		PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.A559T|PCDHGA5_uc011das.1_5'Flank	1,1	1		possibly_damaging(0.468)	p.A559T	NM_018923	NP_061746		tolerated(0.09)	1,1	PCDGE_HUMAN	PCDHGB2	HGNC	Q9Y5G2	PCDGE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	1675	+			UPI000006EE67	559			Extracellular (Potential).|Cadherin 5.		SNV	PCDHGB2,missense_variant,p.Ala559Thr,ENST00000522605,NM_018923.2,NM_032096.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGA5,upstream_gene_variant,,ENST00000518069,NM_018918.2,NM_032054.1;	uc003ljs.1	c.1675G>A	1675/4602	2	2			c.1675G>A						5	SNP	c.(1675-1677)GCG>ACG	25	25				0	Broad	protocadherin gamma subfamily B, 2 isoform 1			140741377		0.692	ENSG00000253910	11371	g.chr5:140741377G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							109.061993	KEEP	21	26	-1	63	44	21	26	-1	110.864821	63	44	0.363636	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.A559T|PCDHGA5_uc011das.1_5'Flank	130	GBM-12-5299-TP	p.A559T	G	CAATGACAATGCGCCACGGGT	NM_018923	NP_061746	140741377	Q9Y5G2	PCDGE_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1675	+	A	A			Missense_Mutation	559			Extracellular (Potential).|Cadherin 5.			
PCDHGB2	0	broad.mit.edu	GRCh37	5	140740727	140740727	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs150123769	by1000genomes	TCGA-27-1837-01	TCGA-27-1837-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000522605.1:c.1025A>C	p.Asp342Ala	p.D342A	ENST00000522605	NM_018923.2	342	gAt/gCt	0			1			C	D/A	uc003ljs.1	protein_coding	YES	CCDS54924.1			1025/2796										0	c.(1024-1026)GAT>GCT			Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF102,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin gamma subfamily B, 2 isoform 1				ENSP00000429018		4-Jan									COSM3409909,COSM3409908	4-Jan	.		ENST00000522605	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000253910	g.chr5:140740727A>C	8709			MODERATE		4.735	high	getma.org/?cm=msa&ty=f&p=PCDGE_HUMAN&rb=243&re=347&var=D342A	getma.org/pdb.php?prot=PCDGE_HUMAN&from=243&to=347&var=D342A	getma.org/?cm=var&var=hg19,5,140740727,A,C&fts=all	D342A	--	--	1																																		PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc011dar.1_Missense_Mutation_p.D342A	1,1	1		probably_damaging(0.998)	p.D342A	NM_018923	NP_061746		deleterious(0)	1,1	PCDGE_HUMAN	PCDHGB2	HGNC	Q9Y5G2	PCDGE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	1025	+			UPI000006EE67	342			Extracellular (Potential).|Cadherin 3.		SNV	PCDHGB2,missense_variant,p.Asp342Ala,ENST00000522605,NM_018923.2,NM_032096.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGA5,upstream_gene_variant,,ENST00000518069,NM_018918.2,NM_032054.1;	uc003ljs.1	c.1025A>C	1025/4602	3	3			c.1025A>C						5	SNP	c.(1024-1026)GAT>GCT	15	15				0	Broad	protocadherin gamma subfamily B, 2 isoform 1			140740727		0.448	ENSG00000253910	11371	g.chr5:140740727A>C	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							139.869379	KEEP	25	16	-1	26	29	25	16	-1	140.151608	26	29	0.44086	1	0	0	0	0	1	0	0	0	--	--		0	C			PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc011dar.1_Missense_Mutation_p.D342A	196	GBM-27-1837-TP	p.D342A	A	GATGACAACGATTGTGCACCT	NM_018923	NP_061746	140740727	Q9Y5G2	PCDGE_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1025	+	C	C			Missense_Mutation	342			Extracellular (Potential).|Cadherin 3.			
PCDHGB3	56102	broad.mit.edu	GRCh37	5	140752102	140752102	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0152-01	TCGA-06-0152-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000576222.1:c.2141G>A	p.Arg714His	p.R714H	ENST00000576222	NM_018924.2	714	cGc/cAc	0			1			A	R/H	uc003ljw.1	protein_coding	YES	CCDS58980.1			2141/2790										0	c.(2140-2142)CGC>CAC			hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF106	protocadherin gamma subfamily B, 3 isoform 1				ENSP00000461862		4-Jan									COSM3409928,COSM3409929	4-Jan	.		ENST00000576222	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000262209	g.chr5:140752102G>A	8710			MODERATE		2.495	medium	getma.org/?cm=msa&ty=f&p=PCDGF_HUMAN&rb=664&re=804&var=R714H	NA	getma.org/?cm=var&var=hg19,5,140752102,G,A&fts=all	R714H	--	--	1																																		PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.R714H|PCDHGA6_uc011dau.1_5'Flank	1,1	1		benign(0.22)	p.R714H	NM_018924	NP_061747		tolerated(0.12)	1,1	PCDGF_HUMAN	PCDHGB3	HGNC	Q9Y5G1	PCDGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	2141	+			UPI000006FA6F	714			Cytoplasmic (Potential).		SNV	PCDHGB3,missense_variant,p.Arg714His,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,NM_032096.1;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGA6,upstream_gene_variant,,ENST00000517434,NM_018919.2,NM_032086.1;	uc003ljw.1	c.2141G>A	2272/4727	2	2			c.2141G>A						5	SNP	c.(2140-2142)CGC>CAC	30	30				0	Broad	protocadherin gamma subfamily B, 3 isoform 1			140752102		0.582	ENSG00000262209	11372	g.chr5:140752102G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							74.765191	KEEP	15	14	-1	34	38	15	14	-1	78.051534	34	38	0.301075	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.R714H|PCDHGA6_uc011dau.1_5'Flank	25	GBM-06-0152-TP	p.R714H	G	ATCTCCCTGCGCCTGCGATGC	NM_018924	NP_061747	140752102	Q9Y5G1	PCDGF_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2141	+	A	A			Missense_Mutation	714			Cytoplasmic (Potential).			
PCDHGB3	56102	broad.mit.edu	GRCh37	5	140750263	140750263	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0210-01	TCGA-06-0210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000576222.1:c.302C>T	p.Thr101Met	p.T101M	ENST00000576222	NM_018924.2	101	aCg/aTg	0			1			T	T/M	uc003ljw.1	protein_coding	YES	CCDS58980.1			302/2790										0	c.(301-303)ACG>ATG			Gene3D:2.60.40.60,Pfam_domain:PF08266,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF106,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin gamma subfamily B, 3 isoform 1				ENSP00000461862		4-Jan									COSM3409918,COSM3409919	4-Jan	.		ENST00000576222	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000262209	g.chr5:140750263C>T	8710			MODERATE		1.165	low	getma.org/?cm=msa&ty=f&p=PCDGF_HUMAN&rb=31&re=112&var=T101M	getma.org/pdb.php?prot=PCDGF_HUMAN&from=31&to=112&var=T101M	getma.org/?cm=var&var=hg19,5,140750263,C,T&fts=all	T101M	--	--	1																																		PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc011dat.1_Missense_Mutation_p.T101M	1,1	1		benign(0.115)	p.T101M	NM_018924	NP_061747		tolerated(0.11)	1,1	PCDGF_HUMAN	PCDHGB3	HGNC	Q9Y5G1	PCDGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	302	+			UPI000006FA6F	101			Extracellular (Potential).|Cadherin 1.		SNV	PCDHGB3,missense_variant,p.Thr101Met,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,NM_032096.1;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGA6,upstream_gene_variant,,ENST00000517434,NM_018919.2,NM_032086.1;	uc003ljw.1	c.302C>T	433/4727	1	1			c.302C>T						5	SNP	c.(301-303)ACG>ATG	1	1				0	Broad	protocadherin gamma subfamily B, 3 isoform 1			140750263		0.433	ENSG00000262209	11372	g.chr5:140750263C>T	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							194.675065	KEEP	55	39	-1	155	184	55	39	-1	221.158263	155	184	0.224274	1	0	0	0	0	1	0	0	0	--	--		0	T			PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc011dat.1_Missense_Mutation_p.T101M	47	GBM-06-0210-TP	p.T101M	C	AAGAAGTCGACGTGTGTTCTG	NM_018924	NP_061747	140750263	Q9Y5G1	PCDGF_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	302	+	T	T			Missense_Mutation	101			Extracellular (Potential).|Cadherin 1.			
PCDHGB3	56102	broad.mit.edu	GRCh37	5	140751057	140751057	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0211-01	TCGA-06-0211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000576222.1:c.1096G>A	p.Val366Ile	p.V366I	ENST00000576222	NM_018924.2	366	Gtt/Att	0			1			A	V/I	uc003ljw.1	protein_coding	YES	CCDS58980.1			1096/2790										0	c.(1096-1098)GTT>ATT			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF106,Superfamily_domains:SSF49313	protocadherin gamma subfamily B, 3 isoform 1				ENSP00000461862		4-Jan									COSM3409920,COSM3409921	4-Jan	.		ENST00000576222	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000262209	g.chr5:140751057G>A	8710			MODERATE		0.105	neutral	getma.org/?cm=msa&ty=f&p=PCDGF_HUMAN&rb=352&re=443&var=V366I	getma.org/pdb.php?prot=PCDGF_HUMAN&from=352&to=443&var=V366I	getma.org/?cm=var&var=hg19,5,140751057,G,A&fts=all	V366I	--	--	1																																		PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.V366I|PCDHGA6_uc011dau.1_5'Flank	1,1	1		benign(0.025)	p.V366I	NM_018924	NP_061747		tolerated(1)	1,1	PCDGF_HUMAN	PCDHGB3	HGNC	Q9Y5G1	PCDGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	1096	+			UPI000006FA6F	366			Extracellular (Potential).|Cadherin 4.		SNV	PCDHGB3,missense_variant,p.Val366Ile,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,NM_032096.1;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGA6,upstream_gene_variant,,ENST00000517434,NM_018919.2,NM_032086.1;	uc003ljw.1	c.1096G>A	1227/4727	2	2			c.1096G>A						5	SNP	c.(1096-1098)GTT>ATT	32	32				0	Broad	protocadherin gamma subfamily B, 3 isoform 1			140751057		0.408	ENSG00000262209	11372	g.chr5:140751057G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							45.021087	KEEP	11	7	-1	10	11	11	7	-1	45.123442	10	11	0.441176	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.V366I|PCDHGA6_uc011dau.1_5'Flank	48	GBM-06-0211-TP	p.V366I	G	GGGGACTGCCGTTGCCCTGAT	NM_018924	NP_061747	140751057	Q9Y5G1	PCDGF_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1096	+	A	A			Missense_Mutation	366			Extracellular (Potential).|Cadherin 4.			
PCDHGB3	0	broad.mit.edu	GRCh37	5	140751537	140751537	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01	TCGA-19-2620-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000576222.1:c.1576C>T	p.Arg526Cys	p.R526C	ENST00000576222	NM_018924.2	526	Cgt/Tgt	0			1			T	R/C	uc003ljw.1	protein_coding	YES	CCDS58980.1			1576/2790										0	c.(1576-1578)CGT>TGT			Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF106,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin gamma subfamily B, 3 isoform 1				ENSP00000461862		4-Jan									COSM3409924,COSM3409925	4-Jan	.		ENST00000576222	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000262209	g.chr5:140751537C>T	8710			MODERATE		3.015	medium	getma.org/?cm=msa&ty=f&p=PCDGF_HUMAN&rb=457&re=553&var=R526C	getma.org/pdb.php?prot=PCDGF_HUMAN&from=457&to=553&var=R526C	getma.org/?cm=var&var=hg19,5,140751537,C,T&fts=all	R526C	--	--	1																																		PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.R526C|PCDHGA6_uc011dau.1_5'Flank	1,1	1		possibly_damaging(0.696)	p.R526C	NM_018924	NP_061747		deleterious(0.01)	1,1	PCDGF_HUMAN	PCDHGB3	HGNC	Q9Y5G1	PCDGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	1576	+			UPI000006FA6F	526			Extracellular (Potential).|Cadherin 5.		SNV	PCDHGB3,missense_variant,p.Arg526Cys,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,NM_032096.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGA6,upstream_gene_variant,,ENST00000517434,NM_018919.2,NM_032086.1;	uc003ljw.1	c.1576C>T	1707/4727	2	2			c.1576C>T						5	SNP	c.(1576-1578)CGT>TGT	25	25				0	Broad	protocadherin gamma subfamily B, 3 isoform 1			140751537		0.692	ENSG00000262209	11372	g.chr5:140751537C>T	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							66.677785	KEEP	13	14	-1	28	25	13	14	-1	68.70292	28	25	0.324324	1	0	0	0	0	1	0	0	0	--	--		0	T			PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.R526C|PCDHGA6_uc011dau.1_5'Flank	162	GBM-19-2620-TP	p.R526C	C	CGAGCAGCTGCGTGCCTTCGA	NM_018924	NP_061747	140751537	Q9Y5G1	PCDGF_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1576	+	T	T			Missense_Mutation	526			Extracellular (Potential).|Cadherin 5.			
PCDHGB3	0	broad.mit.edu	GRCh37	5	140751480	140751480	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01	TCGA-28-5209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000576222.1:c.1519G>A	p.Val507Met	p.V507M	ENST00000576222	NM_018924.2	507	Gtg/Atg	0		A:0.0008	1	A:0		A	V/M	uc003ljw.1	protein_coding	YES	CCDS58980.1			1519/2790										0	c.(1519-1521)GTG>ATG			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF106,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin gamma subfamily B, 3 isoform 1		A:0		ENSP00000461862	A:0	4-Jan	8.26E-06	0.000106							rs569737317,COSM3409922,COSM3409923	4-Jan	.		ENST00000576222	Transcript		A:0.0002	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000262209	g.chr5:140751480G>A	8710			MODERATE		2.285	medium	getma.org/?cm=msa&ty=f&p=PCDGF_HUMAN&rb=457&re=553&var=V507M	getma.org/pdb.php?prot=PCDGF_HUMAN&from=457&to=553&var=V507M	getma.org/?cm=var&var=hg19,5,140751480,G,A&fts=all	V507M	--	--	1																																		PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.V507M|PCDHGA6_uc011dau.1_5'Flank	0,1,1	1		possibly_damaging(0.851)	p.V507M	NM_018924	NP_061747	A:0	deleterious(0.03)	0,1,1	PCDGF_HUMAN	PCDHGB3	HGNC	Q9Y5G1	PCDGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	1519	+			UPI000006FA6F	507			Extracellular (Potential).|Cadherin 5.		SNV	PCDHGB3,missense_variant,p.Val507Met,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,NM_032096.1;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGA6,upstream_gene_variant,,ENST00000517434,NM_018919.2,NM_032086.1;	uc003ljw.1	c.1519G>A	1650/4727	1	1			c.1519G>A						5	SNP	c.(1519-1521)GTG>ATG	63	63				0	Broad	protocadherin gamma subfamily B, 3 isoform 1			140751480		0.667	ENSG00000262209	11372	g.chr5:140751480G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							161.275315	KEEP	27	40	-1	42	35	27	40	-1	161.529007	42	35	0.451613	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.V507M|PCDHGA6_uc011dau.1_5'Flank	218	GBM-28-5209-TP	p.V507M	G	CTACGTGTCCGTGAGCGCGCG	NM_018924	NP_061747	140751480	Q9Y5G1	PCDGF_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1519	+	A	A			Missense_Mutation	507			Extracellular (Potential).|Cadherin 5.			
PCDHGB4	8641	broad.mit.edu	GRCh37	5	140768990	140768990	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0192-01	TCGA-06-0192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000519479.1:c.1539C>T	p.Phe513=	p.F513=	ENST00000519479	NM_003736.2	513	ttC/ttT	0			1			T	F	uc003lkc.1	protein_coding	YES	CCDS54928.1			1539/2772										0	c.(1537-1539)TTC>TTT			Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF73,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin gamma subfamily B, 4 isoform 1				ENSP00000428288		4-Jan									COSM3409936	4-Jan	.		ENST00000519479	Transcript			calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000253953	g.chr5:140768990C>T	8711			LOW								--	--	1																																		PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Silent_p.F513F	1	1			p.F513F	NM_003736	NP_003727			1	PCDGG_HUMAN	PCDHGB4	HGNC	Q9UN71	PCDGG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	1539	+			UPI000006F773	513			Cadherin 5.|Extracellular (Potential).		SNV	PCDHGB4,synonymous_variant,p.=,ENST00000519479,NM_003736.2,NM_018925.2,NM_032098.1;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.2;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2,NM_032086.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,NM_032096.1;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGA8,upstream_gene_variant,,ENST00000398604,NM_032088.1;	uc003lkc.1	c.1539C>T	1539/4578	1	1			c.1539C>T						5	SNP	c.(1537-1539)TTC>TTT	9	9				0	Broad	protocadherin gamma subfamily B, 4 isoform 1			140768990		0.667	ENSG00000253953	11373	g.chr5:140768990C>T	calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							100.178651	KEEP	28	23	-1	87	87	28	23	-1	113.895296	87	87	0.226131	1	0	0	0	0	0	0	1	0	--	--		0	T			PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Silent_p.F513F	44	GBM-06-0192-TP	p.F513F	C	GGGTGGTGTTCGCGCAGCGCG	NM_003736	NP_003727	140768990	Q9UN71	PCDGG_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1539	+	T	T			Silent	513			Cadherin 5.|Extracellular (Potential).			
PCDHGB4	8641	broad.mit.edu	GRCh37	5	140768969	140768969	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2559-01	TCGA-06-2559-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000519479.1:c.1518C>T	p.Ser506=	p.S506=	ENST00000519479	NM_003736.2	506	agC/agT	0			1			T	S	uc003lkc.1	protein_coding	YES	CCDS54928.1			1518/2772										0	c.(1516-1518)AGC>AGT			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF73,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin gamma subfamily B, 4 isoform 1				ENSP00000428288		4-Jan									COSM3409935	4-Jan	.		ENST00000519479	Transcript			calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000253953	g.chr5:140768969C>T	8711			LOW								--	--	1																																		PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Silent_p.S506S	1	1			p.S506S	NM_003736	NP_003727			1	PCDGG_HUMAN	PCDHGB4	HGNC	Q9UN71	PCDGG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	1518	+			UPI000006F773	506			Cadherin 5.|Extracellular (Potential).		SNV	PCDHGB4,synonymous_variant,p.=,ENST00000519479,NM_003736.2,NM_018925.2,NM_032098.1;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2,NM_032086.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.2;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,NM_032096.1;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGA8,upstream_gene_variant,,ENST00000398604,NM_032088.1;	uc003lkc.1	c.1518C>T	1518/4578	1	1			c.1518C>T						5	SNP	c.(1516-1518)AGC>AGT	12	12				0	Broad	protocadherin gamma subfamily B, 4 isoform 1			140768969		0.662	ENSG00000253953	11373	g.chr5:140768969C>T	calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							123.066174	KEEP	25	26	-1	43	27	25	26	-1	123.700609	43	27	0.414141	1	0	0	0	0	0	0	1	0	--	--		0	T			PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Silent_p.S506S	83	GBM-06-2559-TP	p.S506S	C	TGTCCATAAGCGCGGAGAGCG	NM_003736	NP_003727	140768969	Q9UN71	PCDGG_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1518	+	T	T			Silent	506			Cadherin 5.|Extracellular (Potential).			
PCDHGB4	0	broad.mit.edu	GRCh37	5	140769313	140769313	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000519479.1:c.1862C>T	p.Thr621Met	p.T621M	ENST00000519479	NM_003736.2	621	aCg/aTg	0			1			T	T/M	uc003lkc.1	protein_coding	YES	CCDS54928.1			1862/2772										0	c.(1861-1863)ACG>ATG			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF73,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin gamma subfamily B, 4 isoform 1				ENSP00000428288		4-Jan									COSM3409938	4-Jan	.		ENST00000519479	Transcript			calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000253953	g.chr5:140769313C>T	8711			MODERATE		4.095	high	getma.org/?cm=msa&ty=f&p=PCDGG_HUMAN&rb=575&re=661&var=T621M	getma.org/pdb.php?prot=PCDGG_HUMAN&from=575&to=661&var=T621M	getma.org/?cm=var&var=hg19,5,140769313,C,T&fts=all	T621M			1																																		PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.T621M	1	1		probably_damaging(0.999)	p.T621M	NM_003736	NP_003727		deleterious(0)	1	PCDGG_HUMAN	PCDHGB4	HGNC	Q9UN71	PCDGG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	1862	+			UPI000006F773	621			Extracellular (Potential).|Cadherin 6.		SNV	PCDHGB4,missense_variant,p.Thr621Met,ENST00000519479,NM_003736.2,NM_018925.2,NM_032098.1;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2,NM_032086.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,NM_032096.1;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGA8,upstream_gene_variant,,ENST00000398604,NM_032088.1;	uc003lkc.1	c.1862C>T	1862/4578	2	2			c.1862C>T						5	SNP	c.(1861-1863)ACG>ATG	21	21				0	Broad	protocadherin gamma subfamily B, 4 isoform 1			140769313		0.692	ENSG00000253953	11373	g.chr5:140769313C>T	calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							104.894859	KEEP	18	19	-1	28	30	18	19	-1	105.927582	28	30	0.387097	1	0	0	0	0	1	0	0	0				0	T			PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.T621M	122	GBM-12-0692-TP	p.T621M	C	GGGCTGCGCACGGGCGAAGTG	NM_003736	NP_003727	140769313	Q9UN71	PCDGG_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1862	+	T	T			Missense_Mutation	621			Extracellular (Potential).|Cadherin 6.			
PCDHGB4	0	broad.mit.edu	GRCh37	5	140769126	140769126	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01	TCGA-32-1982-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000519479.1:c.1675C>T	p.Arg559Trp	p.R559W	ENST00000519479	NM_003736.2	559	Cgg/Tgg	0			1			T	R/W	uc003lkc.1	protein_coding	YES	CCDS54928.1			1675/2772										0	c.(1675-1677)CGG>TGG			Gene3D:2.60.40.60,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF73,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313	protocadherin gamma subfamily B, 4 isoform 1				ENSP00000428288		4-Jan									COSM3409937	4-Jan	.		ENST00000519479	Transcript			calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000253953	g.chr5:140769126C>T	8711			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=PCDGG_HUMAN&rb=451&re=560&var=R559W	NA	getma.org/?cm=var&var=hg19,5,140769126,C,T&fts=all	R559W	--	--	1																																		PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.R559W	1	1		benign(0.108)	p.R559W	NM_003736	NP_003727		deleterious(0)	1	PCDGG_HUMAN	PCDHGB4	HGNC	Q9UN71	PCDGG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	1675	+			UPI000006F773	559			Cadherin 5.|Extracellular (Potential).		SNV	PCDHGB4,missense_variant,p.Arg559Trp,ENST00000519479,NM_003736.2,NM_018925.2,NM_032098.1;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.2;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2,NM_032086.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,NM_032096.1;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGA8,upstream_gene_variant,,ENST00000398604,NM_032088.1;	uc003lkc.1	c.1675C>T	1675/4578	1	1			c.1675C>T						5	SNP	c.(1675-1677)CGG>TGG	8	8				0	Broad	protocadherin gamma subfamily B, 4 isoform 1			140769126		0.662	ENSG00000253953	11373	g.chr5:140769126C>T	calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							31.097616	KEEP	6	6	-1	17	16	6	6	-1	32.975593	17	16	0.27907	1	0	0	0	0	1	0	0	0	--	--		0	T			PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.R559W	232	GBM-32-1982-TP	p.R559W	C	CAATGCGCCACGGGTGCTGTA	NM_003736	NP_003727	140769126	Q9UN71	PCDGG_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1675	+	T	T			Missense_Mutation	559			Cadherin 5.|Extracellular (Potential).			
PCDHGB4	0	broad.mit.edu	GRCh37	5	140768648	140768648	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-2575-01	TCGA-41-2575-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000519479.1:c.1197G>A	p.Thr399=	p.T399=	ENST00000519479	NM_003736.2	399	acG/acA	0	A:0		1			A	T	uc003lkc.1	protein_coding	YES	CCDS54928.1			1197/2772										0	c.(1195-1197)ACG>ACA			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF73,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin gamma subfamily B, 4 isoform 1			A:0.0001	ENSP00000428288		4-Jan	5.79E-05					1.50E-05	0.00111	0.000303	rs371979686,COSM3409934	4-Jan	.		ENST00000519479	Transcript			calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000253953	g.chr5:140768648G>A	8711			LOW								--	--	1																																		PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Silent_p.T399T	0,1	1			p.T399T	NM_003736	NP_003727			0,1	PCDGG_HUMAN	PCDHGB4	HGNC	Q9UN71	PCDGG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	1197	+			UPI000006F773	399			Cadherin 4.|Extracellular (Potential).		SNV	PCDHGB4,synonymous_variant,p.=,ENST00000519479,NM_003736.2,NM_018925.2,NM_032098.1;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2,NM_032086.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.2;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,NM_032096.1;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGA8,upstream_gene_variant,,ENST00000398604,NM_032088.1;	uc003lkc.1	c.1197G>A	1197/4578	1	1			c.1197G>A						5	SNP	c.(1195-1197)ACG>ACA	58	58				0	Broad	protocadherin gamma subfamily B, 4 isoform 1			140768648		0.433	ENSG00000253953	11373	g.chr5:140768648G>A	calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							-43.375465	KEEP	4	0	-1	123	95	4	0	-1	7.139011	123	95	0.020408	1	0	0	0	0	0	0	1	0	--	--		0	A			PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Silent_p.T399T	253	GBM-41-2575-TP	p.T399T	G	CAAGAAACACGTATAAATTAG	NM_003736	NP_003727	140768648	Q9UN71	PCDGG_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1197	+	A	A			Silent	399			Cadherin 4.|Extracellular (Potential).			
PCDHGB6	56100	broad.mit.edu	GRCh37	5	140789386	140789386	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000520790.1:c.1617G>A	p.Ser539=	p.S539=	ENST00000520790	NM_018926.2	539	tcG/tcA	0			1			A	S	uc003lkj.1	protein_coding	YES	CCDS54929.1			1617/2793										0	c.(1615-1617)TCG>TCA			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF66,SMART_domains:SM00112,Superfamily_domains:SSF49313	protocadherin gamma subfamily B, 6 isoform 1				ENSP00000428603		4-Jan									COSM3409943	4-Jan	.		ENST00000520790	Transcript			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000253305	g.chr5:140789386G>A	8713			LOW								--	--	1																																		PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Silent_p.S539S	1	1			p.S539S	NM_018926	NP_061749			1	PCDGI_HUMAN	PCDHGB6	HGNC	Q9Y5F9	PCDGI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	1617	+			UPI000006EB47	539			Extracellular (Potential).|Cadherin 5.		SNV	PCDHGB6,synonymous_variant,p.=,ENST00000520790,NM_018926.2,NM_032100.1;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2,NM_032089.1;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2,NM_032086.1;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,NM_032096.1;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2,NM_018925.2,NM_032098.1;PCDHGA10,upstream_gene_variant,,ENST00000398610,NM_018913.2,NM_032090.1;	uc003lkj.1	c.1617G>A	1617/4599	2	2			c.1617G>A						5	SNP	c.(1615-1617)TCG>TCA	18	18				0	Broad	protocadherin gamma subfamily B, 6 isoform 1			140789386		0.701	ENSG00000253305	11375	g.chr5:140789386G>A	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							48.592429	KEEP	9	7	-1	0	2	9	7	-1	50.790926	0	2	0.882353	1	0	0	0	0	0	0	1	0	--	--		0	A			PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Silent_p.S539S	102	GBM-06-5858-TP	p.S539S	G	ACCACGGCTCGCCCACGCTCA	NM_018926	NP_061749	140789386	Q9Y5F9	PCDGI_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1617	+	A	A			Silent	539			Extracellular (Potential).|Cadherin 5.			
PCDHGB6	56100		GRCh37	5	140788951	140788951	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000520790.1:c.1182T>G	p.Ile394Met	p.I394M	ENST00000520790	NM_018926.2	394	atT/atG	0																																																																																																																																																																																																																																												
PCDHGC3	5098	broad.mit.edu	GRCh37	5	140857767	140857770	+	frameshift_variant	Frame_Shift_Del	DEL	TTCT	TTCT	-			TCGA-06-0155-01	TCGA-06-0155-01	TTCT	TTCT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308177.3:c.2088_2091del	p.Ser697Ter	p.S697*	ENST00000308177	NM_002588.2	695	cTTCTt/ct	0			1			-	LL/X	uc003lkv.1	protein_coding	YES	CCDS4261.1			2084-2087/2805									ovary(1)|skin(1)	2	c.(2083-2088)CTTCTTfs			hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF70,Transmembrane_helices:TMhelix	protocadherin gamma subfamily C, 3 isoform 1				ENSP00000312070		4-Jan										4-Jan	.		ENST00000308177	Transcript			calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000240184	g.chr5:140857767_140857770delTTCT	8716	4		HIGH								--	--	1																																OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Frame_Shift_Del_p.L695fs|PCDHGC3_uc003lkw.1_Intron		1			p.L695fs	NM_002588	NP_002579				PCDGK_HUMAN	PCDHGC3	HGNC	Q9UN70	PCDGK_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	2199_2202	+			UPI000006F34F	695_696			Helical; (Potential).		deletion	PCDHGC3,frameshift_variant,p.Ser697Ter,ENST00000308177,NM_002588.2,NM_032402.1;PCDHGA12,intron_variant,,ENST00000252085,NM_003735.2,NM_032094.1;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGA10,intron_variant,,ENST00000398610,NM_018913.2,NM_032090.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2,NM_032086.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2,NM_032089.1;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,NM_032096.1;PCDHGB6,intron_variant,,ENST00000520790,NM_018926.2,NM_032100.1;PCDHGB7,intron_variant,,ENST00000398594,NM_018927.3;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2,NM_018925.2,NM_032098.1;PCDHGA11,intron_variant,,ENST00000398587,NM_032092.1,NM_018914.2;PCDHGA11,intron_variant,,ENST00000518882,;RN7SL68P,upstream_gene_variant,,ENST00000488078,;	uc003lkv.1	c.2084_2087delTTCT	2188-2191/4711	5	5			c.2084_2087delTTCT						5	DEL	c.(2083-2088)CTTCTTfs	11	11			ovary(1)|skin(1)	2	Broad	protocadherin gamma subfamily C, 3 isoform 1			140857770		0.49	ENSG00000240184	11377	g.chr5:140857767_140857770delTTCT	calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding																				0.34	1	1	0	1	0	0	0	0	0	--	--		0	-	OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Frame_Shift_Del_p.L695fs|PCDHGC3_uc003lkw.1_Intron	27	GBM-06-0155-TP	p.L695fs	TTCT	TTTTATCTACTTCTTTCTCTAATC	NM_002588	NP_002579	140857767	Q9UN70	PCDGK_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2199_2202	+	-	-			Frame_Shift_Del	695_696			Helical; (Potential).			
PCDHGC3	5098	broad.mit.edu	GRCh37	5	140856716	140856716	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308177.3:c.1033G>A	p.Val345Met	p.V345M	ENST00000308177	NM_002588.2	345	Gtg/Atg	0			1			A	V/M	uc003lkv.1	protein_coding	YES	CCDS4261.1			1033/2805									ovary(1)|skin(1)	2	c.(1033-1035)GTG>ATG			Gene3D:2.60.40.60,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF70,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313	protocadherin gamma subfamily C, 3 isoform 1				ENSP00000312070		4-Jan									COSM2150488,COSM2150489	4-Jan	.		ENST00000308177	Transcript			calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	ENSG00000240184	g.chr5:140856716G>A	8716			MODERATE		3.005	medium	getma.org/?cm=msa&ty=f&p=PCDGK_HUMAN&rb=245&re=352&var=V345M	getma.org/pdb.php?prot=PCDGK_HUMAN&from=245&to=352&var=V345M	getma.org/?cm=var&var=hg19,5,140856716,G,A&fts=all	V345M	--	--	1																																		PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Missense_Mutation_p.V345M|PCDHGC3_uc003lkw.1_Intron	1,1	1		probably_damaging(0.991)	p.V345M	NM_002588	NP_002579		deleterious(0.04)	1,1	PCDGK_HUMAN	PCDHGC3	HGNC	Q9UN70	PCDGK_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Q9UKW1_HUMAN,Q9BT64_HUMAN		1	1148	+			UPI000006F34F	345			Cadherin 3.|Extracellular (Potential).		SNV	PCDHGC3,missense_variant,p.Val345Met,ENST00000308177,NM_002588.2,NM_032402.1;PCDHGA12,intron_variant,,ENST00000252085,NM_003735.2,NM_032094.1;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGA10,intron_variant,,ENST00000398610,NM_018913.2,NM_032090.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2,NM_032086.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2,NM_032089.1;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,NM_032096.1;PCDHGB6,intron_variant,,ENST00000520790,NM_018926.2,NM_032100.1;PCDHGB7,intron_variant,,ENST00000398594,NM_018927.3;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2,NM_018925.2,NM_032098.1;PCDHGA11,intron_variant,,ENST00000398587,NM_032092.1,NM_018914.2;PCDHGA11,intron_variant,,ENST00000518882,;RN7SL68P,upstream_gene_variant,,ENST00000488078,;	uc003lkv.1	c.1033G>A	1137/4711	2	2			c.1033G>A						5	SNP	c.(1033-1035)GTG>ATG	29	29			ovary(1)|skin(1)	2	Broad	protocadherin gamma subfamily C, 3 isoform 1			140856716		0.547	ENSG00000240184	11377	g.chr5:140856716G>A	calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding							53.563399	KEEP	12	13	-1	36	41	12	13	-1	59.339952	36	41	0.242105	1	0	0	0	0	1	0	0	0	--	--		0	A			PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Missense_Mutation_p.V345M|PCDHGC3_uc003lkw.1_Intron	39	GBM-06-0184-TP	p.V345M	G	GGTTGTGGATGTGAATGACAA	NM_002588	NP_002579	140856716	Q9UN70	PCDGK_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1148	+	A	A			Missense_Mutation	345			Cadherin 3.|Extracellular (Potential).			
PCDP1	0	broad.mit.edu	GRCh37	2	120385285	120385285	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5214-01	TCGA-28-5214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000413369.3:c.1573C>T	p.Arg525Trp	p.R525W	ENST00000413369	NM_001271049.1	525	Cgg/Tgg	0	T:0.0002		1			T	R/W	uc002tmb.2	protein_coding	YES	CCDS33282.2			1573/2523										0	c.(715-717)CGG>TGG				primary ciliary dyskinesia protein 1			T:0	ENSP00000393222		16/24	2.47E-05	9.61E-05				3.00E-05			rs375100921,COSM3406823	16/24	.		ENST00000413369	Transcript				cilium	calmodulin binding	ENSG00000163075	g.chr2:120385285C>T				MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=PCDP1_HUMAN&rb=1&re=838&var=R525W	NA	getma.org/?cm=var&var=hg19,2,120385285,C,T&fts=all	R525W	--	--	1																																		PCDP1_uc010yyq.1_Missense_Mutation_p.R369W	0,1	1		benign(0.021)	p.R239W	NM_001029996	NP_001025167		tolerated(0.06)	0,1	PCDP1_HUMAN	PCDP1	Uniprot_gn	Q4G0U5	PCDP1_HUMAN					17	1807	+	Colorectal(110;0.196)		UPI0001D322F9	525					SNV	PCDP1,missense_variant,p.Arg84Trp,ENST00000443972,;PCDP1,missense_variant,p.Arg239Trp,ENST00000602047,;PCDP1,missense_variant,p.Arg525Trp,ENST00000413369,NM_001271049.1;PCDP1,downstream_gene_variant,,ENST00000599827,;PCDP1,non_coding_transcript_exon_variant,,ENST00000597189,;PCDP1,3_prime_UTR_variant,,ENST00000295220,;PCDP1,3_prime_UTR_variant,,ENST00000413057,;PCDP1,upstream_gene_variant,,ENST00000600951,;	uc002tmb.2	c.715C>T	1660/2801	2	2			c.715C>T						2	SNP	c.(715-717)CGG>TGG	25	25				0	Broad	primary ciliary dyskinesia protein 1			120385285		0.537	ENSG00000163075	11380	g.chr2:120385285C>T		cilium	calmodulin binding							354.388646	KEEP	70	60	-1	117	114	70	60	-1	357.630715	117	114	0.389439	1	0	0	0	0	1	0	0	0	--	--		0	T			PCDP1_uc010yyq.1_Missense_Mutation_p.R369W	221	GBM-28-5214-TP	p.R239W	C	TTATACCAGCCGGTTCTCTGT	NM_001029996	NP_001025167	120385285	Q4G0U5	PCDP1_HUMAN	0			17	1807	+	T	T	Colorectal(110;0.196)		Missense_Mutation	525						
PCDP1	0	broad.mit.edu	GRCh37	2	120362804	120362805	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	CACT			TCGA-76-4925-01	TCGA-76-4925-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000413369.3:c.1074_1077dupACTC	p.Phe360ThrfsTer3	p.F360Tfs*3	ENST00000413369	NM_001271049.1	358	gca/gCACTca	0			1			CACT	A/ALX	uc002tmb.2	protein_coding	YES	CCDS33282.2			1072-1073/2523										0	c.(214-216)GCAfs				primary ciliary dyskinesia protein 1				ENSP00000393222		24-Nov										24-Nov	.		ENST00000413369	Transcript				cilium	calmodulin binding	ENSG00000163075	g.chr2:120362804_120362805insCACT		5		HIGH								--	--	1																																		PCDP1_uc010yyq.1_Frame_Shift_Ins_p.A202fs		1			p.A72fs	NM_001029996	NP_001025167				PCDP1_HUMAN	PCDP1	Uniprot_gn	Q4G0U5	PCDP1_HUMAN					12	1306_1307	+	Colorectal(110;0.196)		UPI0001D322F9	358					insertion	PCDP1,frameshift_variant,p.Phe74ThrfsTer3,ENST00000602047,;PCDP1,frameshift_variant,p.Phe360ThrfsTer3,ENST00000413369,NM_001271049.1;PCDP1,non_coding_transcript_exon_variant,,ENST00000597189,;PCDP1,3_prime_UTR_variant,,ENST00000295220,;PCDP1,3_prime_UTR_variant,,ENST00000413057,;PCDP1,downstream_gene_variant,,ENST00000475569,;PCDP1,downstream_gene_variant,,ENST00000488358,;	uc002tmb.2	c.214_215insCACT	1159-1160/2801	5	5			c.214_215insCACT						2	INS	c.(214-216)GCAfs	48	48				0	Broad	primary ciliary dyskinesia protein 1			120362805		0.386	ENSG00000163075	11380	g.chr2:120362804_120362805insCACT		cilium	calmodulin binding																				0.32	1	0	0	1	1	0	0	0	0	--	--		0	CACT			PCDP1_uc010yyq.1_Frame_Shift_Ins_p.A202fs	265	GBM-76-4925-TP	p.A72fs	-	GATGAAGGAGGCACTCTTTGAA	NM_001029996	NP_001025167	120362804	Q4G0U5	PCDP1_HUMAN	0			12	1306_1307	+	CACT	CACT	Colorectal(110;0.196)		Frame_Shift_Ins	358						
PCED1A	0	broad.mit.edu	GRCh37	20	2819125	2819125	+	splice_acceptor_variant	Splice_Site	DEL	C	C	-			TCGA-26-5134-01	TCGA-26-5134-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360652.2:c.595-1delG		p.X199_splice	ENST00000360652	NM_022760.4			0			1			-		uc002wgz.1	protein_coding	YES	CCDS13035.1			595/1365									ovary(2)	2	c.e6-1				hypothetical protein LOC64773				ENSP00000353868											COSM2156996		.		ENST00000360652	Transcript					hydrolase activity|protein binding	ENSG00000132635	g.chr20:2819125delC	16212			HIGH	7-May							--	--	1																																		FAM113A_uc002whb.1_Intron|FAM113A_uc002wha.1_Intron|FAM113A_uc010zqa.1_Splice_Site_p.L46_splice|FAM113A_uc002whc.1_Splice_Site_p.L148_splice|VPS16_uc002whe.2_5'Flank|VPS16_uc002whf.2_5'Flank|VPS16_uc002whd.2_5'Flank	1	1			p.L199_splice	NM_022760	NP_073597			1	PED1A_HUMAN	PCED1A	HGNC	Q9H1Q7	F113A_HUMAN					6	1092	-			UPI00001285EE						deletion	PCED1A,splice_acceptor_variant,,ENST00000360652,NM_022760.4;PCED1A,splice_acceptor_variant,,ENST00000356872,NM_001271168.1;PCED1A,splice_acceptor_variant,,ENST00000439542,;PCED1A,splice_acceptor_variant,,ENST00000448755,;VPS16,upstream_gene_variant,,ENST00000380445,NM_022575.2;VPS16,upstream_gene_variant,,ENST00000380469,NM_080413.1;VPS16,upstream_gene_variant,,ENST00000453689,;VPS16,upstream_gene_variant,,ENST00000417508,;PCED1A,upstream_gene_variant,,ENST00000474714,;PCED1A,intron_variant,,ENST00000487501,;	uc002wgz.1	c.595_splice	-/2016	5	5			c.595_splice						20	DEL	c.e6-1	7	7			ovary(2)	2	Broad	hypothetical protein LOC64773			2819125		0.572	ENSG00000132635	5314	g.chr20:2819125delC			hydrolase activity|protein binding																				0.45	1	1	0	1	0	0	0	0	1	--	--		0	-			FAM113A_uc002whb.1_Intron|FAM113A_uc002wha.1_Intron|FAM113A_uc010zqa.1_Splice_Site_p.L46_splice|FAM113A_uc002whc.1_Splice_Site_p.L148_splice|VPS16_uc002whe.2_5'Flank|VPS16_uc002whf.2_5'Flank|VPS16_uc002whd.2_5'Flank	183	GBM-26-5134-TP	p.L199_splice	C	GGGGCTGGAGCTAAGTGAGAA	NM_022760	NP_073597	2819125	Q9H1Q7	F113A_HUMAN	0			6	1092	-	-	-			Splice_Site							
PCED1B	91523	broad.mit.edu	GRCh37	12	47629951	47629951	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01	TCGA-06-2557-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000546455.1:c.1105G>A	p.Val369Ile	p.V369I	ENST00000546455	NM_138371.2	369	Gtc/Atc	0			1			A	V/I	uc001rpn.2	protein_coding		CCDS8752.1			1105/1299									skin(3)|ovary(2)	5	c.(1105-1107)GTC>ATC			hmmpanther:PTHR14469,hmmpanther:PTHR14469:SF1	hypothetical protein LOC91523				ENSP00000396040		2-Feb									COSM3398738	2-Feb	.		ENST00000432328	Transcript					hydrolase activity	ENSG00000179715	g.chr12:47629951G>A	28255			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=F113B_HUMAN&rb=323&re=384&var=V369I	NA	getma.org/?cm=var&var=hg19,12,47629951,G,A&fts=all	V369I	--	--	1																																		FAM113B_uc001rpq.2_Missense_Mutation_p.V369I	1			benign(0)	p.V369I	NM_138371	NP_612380		tolerated(0.45)	1	PED1B_HUMAN	PCED1B	HGNC	Q96HM7	F113B_HUMAN			F8VYL8_HUMAN,F8VUZ9_HUMAN,F8VUD2_HUMAN,F8VRF7_HUMAN		4	1836	+	Renal(347;0.138)|Lung SC(27;0.192)		UPI000006E8D2	369			Pro-rich.		SNV	PCED1B,missense_variant,p.Val369Ile,ENST00000546455,NM_138371.2;PCED1B,missense_variant,p.Val369Ile,ENST00000432328,;PCED1B,downstream_gene_variant,,ENST00000549500,;PCED1B,downstream_gene_variant,,ENST00000549630,;PCED1B,downstream_gene_variant,,ENST00000548348,;PCED1B,downstream_gene_variant,,ENST00000551777,;RP11-493L12.3,downstream_gene_variant,,ENST00000547748,;	uc001rpn.2	c.1105G>A	1583/2071	2	2			c.1105G>A						12	SNP	c.(1105-1107)GTC>ATC	45	45			skin(3)|ovary(2)	5	Broad	hypothetical protein LOC91523			47629951		0.527	ENSG00000179715	5315	g.chr12:47629951G>A			hydrolase activity							-37.07997	KEEP	1	4	-1	92	104	1	4	-1	8.619536	92	104	0.027027	1	0	0	0	0	1	0	0	0	--	--		0	A			FAM113B_uc001rpq.2_Missense_Mutation_p.V369I	81	GBM-06-2557-TP	p.V369I	G	AGGTTTCTTCGTCGAAGACAA	NM_138371	NP_612380	47629951	Q96HM7	F113B_HUMAN	0			4	1836	+	A	A	Renal(347;0.138)|Lung SC(27;0.192)		Missense_Mutation	369			Pro-rich.			
PCF11	0	broad.mit.edu	GRCh37	11	82878503	82878505	+	inframe_deletion	In_Frame_Del	DEL	TTG	TTG	-			TCGA-26-5136-01	TCGA-26-5136-01	TTG	TTG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298281.4:c.2055_2057delTGT	p.Val686del	p.V686del	ENST00000298281	NM_015885.3	683	cTTGtt/ctt	0			1			-	LV/L	uc001ozx.3	protein_coding	YES	CCDS44689.1			2048-2050/4668									ovary(1)	1	c.(2047-2052)CTTGTT>CTT			hmmpanther:PTHR15921:SF3,hmmpanther:PTHR15921	pre-mRNA cleavage complex II protein Pcf11				ENSP00000298281		16-Jul										16-Jul	.		ENST00000298281	Transcript			mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		ENSG00000165494	g.chr11:82878503_82878505delTTG	30097	7		MODERATE								--	--	1																																		PCF11_uc010rsu.1_In_Frame_Del_p.V686del		1			p.V686del	NM_015885	NP_056969				PCF11_HUMAN	PCF11	HGNC	O94913	PCF11_HUMAN			E9PKN0_HUMAN		7	2393_2395	+			UPI00001BB2B7	686					deletion	PCF11,inframe_deletion,p.Val686del,ENST00000298281,NM_015885.3;PCF11,inframe_deletion,p.Val686del,ENST00000530660,;PCF11,inframe_deletion,p.Val686del,ENST00000530304,;PCF11,upstream_gene_variant,,ENST00000530906,;PCF11,downstream_gene_variant,,ENST00000533018,;	uc001ozx.3	c.2048_2050delTTG	2500-2502/7677	5	5			c.2048_2050delTTG						11	DEL	c.(2047-2052)CTTGTT>CTT	48	48			ovary(1)	1	Broad	pre-mRNA cleavage complex II protein Pcf11			82878505		0.33	ENSG00000165494	11381	g.chr11:82878503_82878505delTTG	mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex																					0.28	1	1	0	1	0	0	0	0	0	--	--		0	-			PCF11_uc010rsu.1_In_Frame_Del_p.V686del	185	GBM-26-5136-TP	p.V686del	TTG	GATGACTTCCTTGTTGTTGTGCA	NM_015885	NP_056969	82878503	O94913	PCF11_HUMAN	0			7	2393_2395	+	-	-			In_Frame_Del	686						
PCGF5	0	broad.mit.edu	GRCh37	10	93038067	93038067	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-2554-01	TCGA-14-2554-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336126.5:c.765C>T	p.Phe255=	p.F255=	ENST00000336126	NM_032373.4	255	ttC/ttT	0		T:0	1	T:0		T	F	uc001khh.2	protein_coding	YES	CCDS7413.1			765/771									lung(1)	1	c.(763-765)TTC>TTT			hmmpanther:PTHR10825	polycomb group ring finger 5		T:0.001		ENSP00000337500	T:0	10-Oct	2.47E-05			0.000116		3.00E-05			rs191746944,COSM921379	10-Oct	.		ENST00000336126	Transcript		T:0.0002	regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding	ENSG00000180628	g.chr10:93038067C>T	28264			LOW								--	--	1																																		PCGF5_uc010qnk.1_Silent_p.F255F|PCGF5_uc001khi.2_Silent_p.F255F	0,1	1			p.F255F	NM_032373	NP_115749	T:0		0,1	PCGF5_HUMAN	PCGF5	HGNC	Q86SE9	PCGF5_HUMAN					10	1012	+			UPI0000192738	255					SNV	PCGF5,synonymous_variant,p.=,ENST00000336126,NM_032373.4,NM_001257101.1;PCGF5,synonymous_variant,p.=,ENST00000543648,NM_001256549.1;	uc001khh.2	c.765C>T	997/7018	2	2			c.765C>T						10	SNP	c.(763-765)TTC>TTT	30	30			lung(1)	1	Broad	polycomb group ring finger 5			93038067		0.388	ENSG00000180628	11385	g.chr10:93038067C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding	Colon(178;732 2696 46441 50370)			Colon(178;732 2696 46441 50370)			115.223746	KEEP	13	29	-1	50	36	13	29	-1	116.88068	50	36	0.365385	1	0	0	0	0	0	0	1	0	--	--		0	T			PCGF5_uc010qnk.1_Silent_p.F255F|PCGF5_uc001khi.2_Silent_p.F255F	150	GBM-14-2554-TP	p.F255F	C	GAATTGATTTCGGTTAGACCA	NM_032373	NP_115749	93038067	Q86SE9	PCGF5_HUMAN	0			10	1012	+	T	T			Silent	255						
PCGF5	84333		GRCh37	10	93031452	93031452	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000336126.5:c.721C>A	p.Gln241Lys	p.Q241K	ENST00000336126	NM_032373.4	241	Cag/Aag	0																																																																																																																																																																																																																																												
PCGF6	0	broad.mit.edu	GRCh37	10	105108477	105108477	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-14-0813-01	TCGA-14-0813-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369847.3:c.553A>G	p.Ile185Val	p.I185V	ENST00000369847	NM_001011663.1	185	Ata/Gta	0		C:0	1	C:0		C	I/V	uc001kwt.2	protein_coding	YES	CCDS31275.1			553/1053									kidney(1)	1	c.(553-555)ATA>GTA			hmmpanther:PTHR10825:SF24,hmmpanther:PTHR10825,Gene3D:3.30.40.10	polycomb group ring finger 6 isoform a		C:0		ENSP00000358862	C:0.001	10-Mar	1.65E-05					3.03E-05			rs200230704,COSM2154706,COSM2154707	10-Mar	.		ENST00000369847	Transcript		C:0.0002	negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000156374	g.chr10:105108477T>C	21156			MODERATE		2.305	medium	getma.org/?cm=msa&ty=f&p=PCGF6_HUMAN&rb=173&re=350&var=I185V	getma.org/pdb.php?prot=PCGF6_HUMAN&from=173&to=350&var=I185V	getma.org/?cm=var&var=hg19,10,105108477,T,C&fts=all	I185V	--	--	1																																		PCGF6_uc001kwu.2_Missense_Mutation_p.I185V|PCGF6_uc009xxk.2_RNA|PCGF6_uc009xxl.2_RNA|PCGF6_uc009xxm.2_RNA	0,1,1	1		benign(0.02)	p.I185V	NM_001011663	NP_001011663	C:0	deleterious(0.03)	0,1,1	PCGF6_HUMAN	PCGF6	HGNC	Q9BYE7	PCGF6_HUMAN		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)			3	621	-		Colorectal(252;0.0747)|Breast(234;0.128)	UPI00001F9669	185					SNV	PCGF6,missense_variant,p.Ile185Val,ENST00000369847,NM_001011663.1;PCGF6,missense_variant,p.Ile185Val,ENST00000337211,NM_032154.3;PCGF6,non_coding_transcript_exon_variant,,ENST00000490296,;PCGF6,non_coding_transcript_exon_variant,,ENST00000492755,;	uc001kwt.2	c.553A>G	621/2230	3	3			c.553A>G						10	SNP	c.(553-555)ATA>GTA	59	59			kidney(1)	1	Broad	polycomb group ring finger 6 isoform a			105108477		0.284	ENSG00000156374	11386	g.chr10:105108477T>C	negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							130.684077	KEEP	21	19	-1	17	16	21	19	-1	130.895482	17	16	0.560606	1	0	0	0	0	1	0	0	0	--	--		0	C			PCGF6_uc001kwu.2_Missense_Mutation_p.I185V|PCGF6_uc009xxk.2_RNA|PCGF6_uc009xxl.2_RNA|PCGF6_uc009xxm.2_RNA	138	GBM-14-0813-TP	p.I185V	T	TCTTACCTTATGTTATAAAGA	NM_001011663	NP_001011663	105108477	Q9BYE7	PCGF6_HUMAN	0		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)	3	621	-	C	C		Colorectal(252;0.0747)|Breast(234;0.128)	Missense_Mutation	185						
PCID2	55795	broad.mit.edu	GRCh37	13	113854813	113854813	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000246505.5:c.54C>T	p.Asp18=	p.D18=	ENST00000246505	NM_001258212.1	18	gaC/gaT	0			1			A	D	uc010tju.1	protein_coding		CCDS9532.2			54/1200										0	c.(52-54)GAC>GAT			hmmpanther:PTHR12732	PCI domain containing 2				ENSP00000337405		14-Feb									COSM2151788	14-Feb	.		ENST00000337344	Transcript			negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding	ENSG00000126226	g.chr13:113854813G>A	25653			LOW								--	--	1																																		PCID2_uc010tjv.1_Silent_p.D18D|PCID2_uc010tjw.1_Silent_p.D18D|PCID2_uc001vte.2_5'UTR|PCID2_uc001vtd.2_5'UTR|PCID2_uc001vtf.2_5'UTR|PCID2_uc001vtg.1_RNA	1				p.D18D	NM_001127203	NP_001120675			1	PCID2_HUMAN	PCID2	HGNC	Q5JVF3	PCID2_HUMAN	all cancers(43;0.104)				2	135	-	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	UPI000007187B	18					SNV	PCID2,synonymous_variant,p.=,ENST00000375457,NM_001258213.1;PCID2,synonymous_variant,p.=,ENST00000337344,NM_001127202.2;PCID2,synonymous_variant,p.=,ENST00000246505,NM_001258212.1;PCID2,synonymous_variant,p.=,ENST00000375479,NM_018386.3,NM_001127203.2;PCID2,synonymous_variant,p.=,ENST00000375459,;PCID2,synonymous_variant,p.=,ENST00000375477,;PCID2,non_coding_transcript_exon_variant,,ENST00000484641,;PCID2,non_coding_transcript_exon_variant,,ENST00000475433,;PCID2,non_coding_transcript_exon_variant,,ENST00000480971,;PCID2,non_coding_transcript_exon_variant,,ENST00000491548,;PCID2,non_coding_transcript_exon_variant,,ENST00000462853,;	uc010tju.1	c.54C>T	131/1898	2	2			c.54C>T						13	SNP	c.(52-54)GAC>GAT	34	34				0	Broad	PCI domain containing 2			113854813		0.418	ENSG00000126226	11387	g.chr13:113854813G>A	negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding							86.334377	KEEP	16	18	-1	33	18	16	18	-1	86.840421	33	18	0.410959	1	0	0	0	0	0	0	1	0	--	--		0	A			PCID2_uc010tjv.1_Silent_p.D18D|PCID2_uc010tjw.1_Silent_p.D18D|PCID2_uc001vte.2_5'UTR|PCID2_uc001vtd.2_5'UTR|PCID2_uc001vtf.2_5'UTR|PCID2_uc001vtg.1_RNA	68	GBM-06-0747-TP	p.D18D	G	CATCTCTGCTGTCGATGGCTT	NM_001127203	NP_001120675	113854813	Q5JVF3	PCID2_HUMAN	0	all cancers(43;0.104)		2	135	-	A	A	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	Silent	18						
PCID2	0	broad.mit.edu	GRCh37	13	113852564	113852564	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-81-5910-01	TCGA-81-5910-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337344.4:c.141G>A	p.Glu47=	p.E47=	ENST00000337344	NM_001127202.2	47	gaG/gaA	0			1			T	E	uc010tju.1	protein_coding		CCDS9532.2			141/1200										0	c.(139-141)GAG>GAA			hmmpanther:PTHR12732	PCI domain containing 2				ENSP00000337405		14-Mar									COSM3399250	14-Mar	.		ENST00000337344	Transcript			negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding	ENSG00000126226	g.chr13:113852564C>T	25653			LOW								--	--	1																																		PCID2_uc010tjv.1_Silent_p.E47E|PCID2_uc010tjw.1_Silent_p.E47E|PCID2_uc001vte.2_5'UTR|PCID2_uc001vtd.2_5'UTR|PCID2_uc001vtf.2_5'UTR|PCID2_uc001vtg.1_RNA	1				p.E47E	NM_001127203	NP_001120675			1	PCID2_HUMAN	PCID2	HGNC	Q5JVF3	PCID2_HUMAN	all cancers(43;0.104)				3	222	-	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	UPI000007187B	47					SNV	PCID2,synonymous_variant,p.=,ENST00000375457,NM_001258213.1;PCID2,synonymous_variant,p.=,ENST00000337344,NM_001127202.2;PCID2,synonymous_variant,p.=,ENST00000246505,NM_001258212.1;PCID2,synonymous_variant,p.=,ENST00000375479,NM_018386.3,NM_001127203.2;PCID2,synonymous_variant,p.=,ENST00000375459,;PCID2,synonymous_variant,p.=,ENST00000375477,;PCID2,non_coding_transcript_exon_variant,,ENST00000484641,;PCID2,non_coding_transcript_exon_variant,,ENST00000475433,;PCID2,non_coding_transcript_exon_variant,,ENST00000480971,;PCID2,non_coding_transcript_exon_variant,,ENST00000491548,;PCID2,non_coding_transcript_exon_variant,,ENST00000462853,;	uc010tju.1	c.141G>A	218/1898	1	1			c.141G>A						13	SNP	c.(139-141)GAG>GAA	10	10				0	Broad	PCI domain containing 2			113852564		0.358	ENSG00000126226	11387	g.chr13:113852564C>T	negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding							114.234308	KEEP	22	16	-1	25	34	22	16	-1	114.809922	25	34	0.413793	1	0	0	0	0	0	0	1	0	--	--		0	T			PCID2_uc010tjv.1_Silent_p.E47E|PCID2_uc010tjw.1_Silent_p.E47E|PCID2_uc001vte.2_5'UTR|PCID2_uc001vtd.2_5'UTR|PCID2_uc001vtf.2_5'UTR|PCID2_uc001vtg.1_RNA	289	GBM-81-5910-TP	p.E47E	C	GACACTTCTCCTCTGGAGAGG	NM_001127203	NP_001120675	113852564	Q5JVF3	PCID2_HUMAN	0	all cancers(43;0.104)		3	222	-	T	T	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	Silent	47						
PCID2	55795		GRCh37	13	113834511	113834511	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000246505.5:c.983A>T	p.Tyr328Phe	p.Y328F	ENST00000246505	NM_001258212.1	328	tAt/tTt	0																																																																																																																																																																																																																																												
PCK1	0	broad.mit.edu	GRCh37	20	56139269	56139269	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6700-01	TCGA-06-6700-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319441.4:c.1006G>A	p.Ala336Thr	p.A336T	ENST00000319441	NM_002591.3	336	Gct/Act	0		A:0	1	A:0		A	A/T	uc002xyn.3	protein_coding	YES	CCDS13460.1			1006/1869									skin(1)	1	c.(1006-1008)GCT>ACT			HAMAP:MF_00452,Pfam_domain:PF00821,PIRSF_domain:PIRSF001348,hmmpanther:PTHR11561,hmmpanther:PTHR11561:SF1,Superfamily_domains:SSF53795	cytosolic phosphoenolpyruvate carboxykinase 1		A:0.001		ENSP00000319814	A:0	10-Jul	3.29E-05							0.000242	rs574426927,COSM2764408,COSM3405227	10-Jul	.		ENST00000319441	Transcript	1	A:0.0004	gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	ENSG00000124253	g.chr20:56139269G>A	8724			MODERATE		4.265	high	getma.org/?cm=msa&ty=f&p=PCKGC_HUMAN&rb=29&re=622&var=A336T	getma.org/pdb.php?prot=PCKGC_HUMAN&from=29&to=622&var=A336T	getma.org/?cm=var&var=hg19,20,56139269,G,A&fts=all	A336T	--	--	1																																		PCK1_uc010zzm.1_Missense_Mutation_p.A19T	0,1,1	1		probably_damaging(0.987)	p.A336T	NM_002591	NP_002582	A:0.001	deleterious(0)	0,1,1	PCKGC_HUMAN	PCK1	HGNC	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)				7	1169	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		UPI000013CB5A	336					SNV	PCK1,missense_variant,p.Ala336Thr,ENST00000319441,NM_002591.3;PCK1,missense_variant,p.Ala19Thr,ENST00000543666,;PCK1,missense_variant,p.Ala204Thr,ENST00000535860,;PCK1,non_coding_transcript_exon_variant,,ENST00000467047,;PCK1,non_coding_transcript_exon_variant,,ENST00000485958,;PCK1,downstream_gene_variant,,ENST00000475833,;PCK1,downstream_gene_variant,,ENST00000498194,;PCK1,downstream_gene_variant,,ENST00000470051,;	uc002xyn.3	c.1006G>A	1170/2686	2	2			c.1006G>A						20	SNP	c.(1006-1008)GCT>ACT	35	35			skin(1)	1	Broad	cytosolic phosphoenolpyruvate carboxykinase 1			56139269		0.493	ENSG00000124253	11389	g.chr20:56139269G>A	gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity							24.110741	KEEP	7	5	-1	23	21	7	5	-1	27.905793	23	21	0.215686	1	0	0	0	0	1	0	0	0	--	--		0	A			PCK1_uc010zzm.1_Missense_Mutation_p.A19T	114	GBM-06-6700-TP	p.A336T	G	TTTCGGTGTCGCTCCTGGGAC	NM_002591	NP_002582	56139269	P35558	PCKGC_HUMAN	0	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		7	1169	+	A	A	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		Missense_Mutation	336						
PCK1	0	broad.mit.edu	GRCh37	20	56140691	56140691	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-14-1043-01	TCGA-14-1043-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319441.4:c.1700A>C	p.Lys567Thr	p.K567T	ENST00000319441	NM_002591.3	567	aAa/aCa	0			1			C	K/T	uc002xyn.3	protein_coding	YES	CCDS13460.1			1700/1869									skin(1)	1	c.(1699-1701)AAA>ACA			Gene3D:3.90.228.20,HAMAP:MF_00452,Pfam_domain:PF00821,PIRSF_domain:PIRSF001348,hmmpanther:PTHR11561,hmmpanther:PTHR11561:SF1,Superfamily_domains:SSF53795	cytosolic phosphoenolpyruvate carboxykinase 1				ENSP00000319814		10-Oct									COSM3405228	10-Oct	.		ENST00000319441	Transcript	1		gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	ENSG00000124253	g.chr20:56140691A>C	8724			MODERATE		-0.265	neutral	getma.org/?cm=msa&ty=f&p=PCKGC_HUMAN&rb=29&re=622&var=K567T	getma.org/pdb.php?prot=PCKGC_HUMAN&from=29&to=622&var=K567T	getma.org/?cm=var&var=hg19,20,56140691,A,C&fts=all	K567T	--	--	1																																		PCK1_uc010zzm.1_Missense_Mutation_p.K250T	1	1		benign(0.003)	p.K567T	NM_002591	NP_002582		tolerated(0.53)	1	PCKGC_HUMAN	PCK1	HGNC	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)				10	1863	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		UPI000013CB5A	567					SNV	PCK1,missense_variant,p.Lys567Thr,ENST00000319441,NM_002591.3;PCK1,missense_variant,p.Lys250Thr,ENST00000543666,;PCK1,downstream_gene_variant,,ENST00000535860,;PCK1,non_coding_transcript_exon_variant,,ENST00000467047,;PCK1,downstream_gene_variant,,ENST00000475833,;PCK1,downstream_gene_variant,,ENST00000498194,;PCK1,downstream_gene_variant,,ENST00000485958,;PCK1,downstream_gene_variant,,ENST00000470051,;	uc002xyn.3	c.1700A>C	1864/2686	3	3			c.1700A>C						20	SNP	c.(1699-1701)AAA>ACA	64	64			skin(1)	1	Broad	cytosolic phosphoenolpyruvate carboxykinase 1			56140691		0.532	ENSG00000124253	11389	g.chr20:56140691A>C	gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity							181.529208	KEEP	26	28	-1	9	14	26	28	-1	183.887259	9	14	0.695652	1	0	0	0	0	1	0	0	0	--	--		0	C			PCK1_uc010zzm.1_Missense_Mutation_p.K250T	143	GBM-14-1043-TP	p.K567T	A	CTGAACCTGAAAGGCCTGGGG	NM_002591	NP_002582	56140691	P35558	PCKGC_HUMAN	0	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		10	1863	+	C	C	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		Missense_Mutation	567						
PCK1	5105		GRCh37	20	56137157	56137157	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000319441.4:c.255G>A	p.Val85=	p.V85=	ENST00000319441	NM_002591.3	85	gtG/gtA	0																																																																																																																																																																																																																																												
PCK2	0	broad.mit.edu	GRCh37	14	24567814	24567814	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-32-1977-01	TCGA-32-1977-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216780.4:c.591T>C	p.Pro197=	p.P197=	ENST00000216780	NM_004563.2	197	ccT/ccC	0	C:0.0002		1			C	P	uc001wlt.2	protein_coding	YES	CCDS9609.1			591/1923									ovary(1)	1	c.(589-591)CCT>CCC			Superfamily_domains:SSF68923,PIRSF_domain:PIRSF001348,Gene3D:3.40.449.10,Pfam_domain:PF00821,hmmpanther:PTHR11561:SF3,hmmpanther:PTHR11561,HAMAP:MF_00452	mitochondrial phosphoenolpyruvate carboxykinase			C:0	ENSP00000216780		10-Apr	8.24E-06	9.65E-05							rs371225237,COSM3401251,COSM3401252	10-Apr	.		ENST00000216780	Transcript	1		gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	ENSG00000100889	g.chr14:24567814T>C	8725			LOW								--	--	1																																		NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Silent_p.P209P|PCK2_uc001wls.2_Silent_p.P197P|PCK2_uc010tnw.1_Silent_p.P63P|PCK2_uc010ald.2_Silent_p.P49P|PCK2_uc010ale.2_Silent_p.P63P|PCK2_uc010tnx.1_Silent_p.P63P|PCK2_uc001wlu.3_Silent_p.P63P	0,1,1	1			p.P197P	NM_004563	NP_004554			0,1,1	PCKGM_HUMAN	PCK2	HGNC	Q16822	PCKGM_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	H0YNG4_HUMAN,H0YMU6_HUMAN,B4DW73_HUMAN		4	723	+			UPI000013C708	197					SNV	PCK2,synonymous_variant,p.=,ENST00000545054,;PCK2,synonymous_variant,p.=,ENST00000558096,;PCK2,synonymous_variant,p.=,ENST00000216780,NM_004563.2;PCK2,synonymous_variant,p.=,ENST00000561286,;PCK2,synonymous_variant,p.=,ENST00000396973,NM_001018073.1;PCK2,synonymous_variant,p.=,ENST00000559250,;PCK2,synonymous_variant,p.=,ENST00000560736,;PCK2,synonymous_variant,p.=,ENST00000559837,;NRL,intron_variant,,ENST00000561028,;NRL,intron_variant,,ENST00000558280,;NRL,upstream_gene_variant,,ENST00000396997,;PCK2,upstream_gene_variant,,ENST00000559171,;PCK2,downstream_gene_variant,,ENST00000560657,;PCK2,synonymous_variant,p.=,ENST00000559503,;PCK2,non_coding_transcript_exon_variant,,ENST00000558674,;PCK2,non_coding_transcript_exon_variant,,ENST00000561050,;PCK2,downstream_gene_variant,,ENST00000560106,;PCK2,downstream_gene_variant,,ENST00000559584,;PCK2,upstream_gene_variant,,ENST00000557969,;	uc001wlt.2	c.591T>C	859/2357	3	3			c.591T>C						14	SNP	c.(589-591)CCT>CCC	6	6			ovary(1)	1	Broad	mitochondrial phosphoenolpyruvate carboxykinase			24567814		0.617	ENSG00000100889	11390	g.chr14:24567814T>C	gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity							-11.045321	KEEP	0	3	-1	51	38	0	3	-1	7.47781	51	38	0.0375	1	0	0	0	0	0	0	1	0	--	--		0	C			NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Silent_p.P209P|PCK2_uc001wls.2_Silent_p.P197P|PCK2_uc010tnw.1_Silent_p.P63P|PCK2_uc010ald.2_Silent_p.P49P|PCK2_uc010ale.2_Silent_p.P63P|PCK2_uc010tnx.1_Silent_p.P63P|PCK2_uc001wlu.3_Silent_p.P63P	229	GBM-32-1977-TP	p.P197P	T	TGGGGACACCTGTGCTTCAGG	NM_004563	NP_004554	24567814	Q16822	PCKGM_HUMAN	0		GBM - Glioblastoma multiforme(265;0.0184)	4	723	+	C	C			Silent	197						
PCLO	27445	broad.mit.edu	GRCh37	7	82390725	82390725	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0122-01	TCGA-06-0122-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333891.9:c.15092T>C	p.Leu5031Pro	p.L5031P	ENST00000333891	NM_033026.5	5031	cTc/cCc	0			1			G	L/P	uc003uhx.2	protein_coding	YES	CCDS47630.1			15092/15429									ovary(7)	7	c.(15091-15093)CTC>CCC			Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6,SMART_domains:SM00239,Superfamily_domains:SSF49562	piccolo isoform 1				ENSP00000334319		23/25									COSM3412352,COSM3412353	23/25	.		ENST00000333891	Transcript	1		cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	ENSG00000186472	g.chr7:82390725A>G	13406			MODERATE		2.74	medium	getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=4949&re=5039&var=L4954P	getma.org/pdb.php?prot=PCLO_HUMAN&from=4949&to=5039&var=L4954P	getma.org/?cm=var&var=hg19,7,82390725,A,G&fts=all	L4954P	--	--	1																																			1,1	1		unknown(0)	p.L5031P	NM_033026	NP_149015			1,1	PCLO_HUMAN	PCLO	HGNC	Q9Y6V0	PCLO_HUMAN					23	15381	-			UPI0001573469	4954			C2 2.		SNV	PCLO,missense_variant,p.Leu5031Pro,ENST00000333891,NM_033026.5;	uc003uhx.2	c.15092T>C	15430/20329	3	3			c.15092T>C						7	SNP	c.(15091-15093)CTC>CCC	16	16			ovary(7)	7	Broad	piccolo isoform 1			82390725		0.308	ENSG00000186472	11391	g.chr7:82390725A>G	cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity							51.553971	KEEP	8	6	-1	7	8	8	6	-1	51.561165	7	8	0.482759	1	0	0	0	0	1	0	0	0	--	--		0	G				10	GBM-06-0122-TP	p.L5031P	A	TCTGCATTGGAGAATTTCAAC	NM_033026	NP_149015	82390725	Q9Y6V0	PCLO_HUMAN	0			23	15381	-	G	G			Missense_Mutation	4954			C2 2.			
PCLO	27445	broad.mit.edu	GRCh37	7	82763627	82763627	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333891.9:c.3239del	p.Thr1080MetfsTer19	p.T1080Mfs*19	ENST00000333891	NM_033026.5	1080	aCt/at	0			1			-	T/X	uc003uhx.2	protein_coding	YES	CCDS47630.1			3239/15429									ovary(7)	7	c.(3238-3240)ACTfs			Gene3D:3.30.40.10,Pfam_domain:PF05715,hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6,Superfamily_domains:SSF57903	piccolo isoform 1				ENSP00000334319		25-Mar										25-Mar	.		ENST00000333891	Transcript	1		cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	ENSG00000186472	g.chr7:82763627delG	13406			HIGH								--	--	1																																		PCLO_uc003uhv.2_Frame_Shift_Del_p.T1080fs		1			p.T1080fs	NM_033026	NP_149015				PCLO_HUMAN	PCLO	HGNC	Q9Y6V0	PCLO_HUMAN					3	3528	-			UPI0001573469	1026			C4-type (Potential).		deletion	PCLO,frameshift_variant,p.Thr1080MetfsTer19,ENST00000333891,NM_033026.5;PCLO,frameshift_variant,p.Thr1080MetfsTer19,ENST00000423517,NM_014510.2;PCLO,non_coding_transcript_exon_variant,,ENST00000461143,;	uc003uhx.2	c.3239delC	3577/20329	5	5			c.3239delC						7	DEL	c.(3238-3240)ACTfs	6	6			ovary(7)	7	Broad	piccolo isoform 1			82763627		0.348	ENSG00000186472	11391	g.chr7:82763627delG	cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity																				0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			PCLO_uc003uhv.2_Frame_Shift_Del_p.T1080fs	18	GBM-06-0137-TP	p.T1080fs	G	CTTGCATTCAGTGCAAGTATT	NM_033026	NP_149015	82763627	Q9Y6V0	PCLO_HUMAN	0			3	3528	-	-	-			Frame_Shift_Del	1026			C4-type (Potential).			
PCLO	27445	broad.mit.edu	GRCh37	7	82784773	82784773	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0157-01	TCGA-06-0157-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333891.9:c.1184C>T	p.Pro395Leu	p.P395L	ENST00000333891	NM_033026.5	395	cCt/cTt	0			1			A	P/L	uc003uhx.2	protein_coding	YES	CCDS47630.1			1184/15429									ovary(7)	7	c.(1183-1185)CCT>CTT			hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6	piccolo isoform 1				ENSP00000334319		25-Feb	8.27E-06							6.07E-05	rs771331973,COSM2150061,COSM2150060,COSM2150062	25-Feb	.		ENST00000333891	Transcript	1		cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	ENSG00000186472	g.chr7:82784773G>A	13406			MODERATE		1.28	low	getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=214&re=489&var=P395L	NA	getma.org/?cm=var&var=hg19,7,82784773,G,A&fts=all	P395L	--	--	1																																		PCLO_uc003uhv.2_Missense_Mutation_p.P395L	0,1,1,1	1		possibly_damaging(0.851)	p.P395L	NM_033026	NP_149015			0,1,1,1	PCLO_HUMAN	PCLO	HGNC	Q9Y6V0	PCLO_HUMAN					2	1473	-			UPI0001573469	346			Gln-rich.|Pro-rich.		SNV	PCLO,missense_variant,p.Pro395Leu,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Pro395Leu,ENST00000423517,NM_014510.2;	uc003uhx.2	c.1184C>T	1522/20329	1	1			c.1184C>T						7	SNP	c.(1183-1185)CCT>CTT	52	52			ovary(7)	7	Broad	piccolo isoform 1			82784773		0.592	ENSG00000186472	11391	g.chr7:82784773G>A	cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity							177.361804	KEEP	41	30	-1	105	84	41	30	-1	189.18923	105	84	0.266667	1	0	0	0	0	1	0	0	0	--	--		0	A			PCLO_uc003uhv.2_Missense_Mutation_p.P395L	28	GBM-06-0157-TP	p.P395L	G	TCCAACTCCAGGAGGCTGAGC	NM_033026	NP_149015	82784773	Q9Y6V0	PCLO_HUMAN	0			2	1473	-	A	A			Missense_Mutation	346			Gln-rich.|Pro-rich.			
PCLO	27445	broad.mit.edu	GRCh37	7	82595090	82595090	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0166-01	TCGA-06-0166-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333891.9:c.4014A>T	p.Lys1338Asn	p.K1338N	ENST00000333891	NM_033026.5	1338	aaA/aaT	0			1			A	K/N	uc003uhx.2	protein_coding	YES	CCDS47630.1			4014/15429									ovary(7)	7	c.(4012-4014)AAA>AAT			hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6,Low_complexity_(Seg):seg	piccolo isoform 1				ENSP00000334319		25-Apr									COSM2150177,COSM2150176	25-Apr	.		ENST00000333891	Transcript	1		cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	ENSG00000186472	g.chr7:82595090T>A	13406			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=A4D1A8_HUMAN&rb=1&re=529&var=K214N	NA	getma.org/?cm=var&var=hg19,7,82595090,T,A&fts=all	K214N	--	--	1																																		PCLO_uc003uhv.2_Missense_Mutation_p.K1338N	1,1	1		unknown(0)	p.K1338N	NM_033026	NP_149015			1,1	PCLO_HUMAN	PCLO	HGNC	Q9Y6V0	PCLO_HUMAN					4	4303	-			UPI0001573469	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					SNV	PCLO,missense_variant,p.Lys1338Asn,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Lys1338Asn,ENST00000423517,NM_014510.2;PCLO,downstream_gene_variant,,ENST00000461143,;	uc003uhx.2	c.4014A>T	4352/20329	1	1			c.4014A>T						7	SNP	c.(4012-4014)AAA>AAT	57	57			ovary(7)	7	Broad	piccolo isoform 1			82595090		0.338	ENSG00000186472	11391	g.chr7:82595090T>A	cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity							106.763259	KEEP	25	22	-1	76	44	25	22	-1	112.735113	76	44	0.288591	1	0	0	0	0	1	0	0	0	--	--		0	A			PCLO_uc003uhv.2_Missense_Mutation_p.K1338N	31	GBM-06-0166-TP	p.K1338N	T	AACTTACTGTTTTTTCTTTCC	NM_033026	NP_149015	82595090	Q9Y6V0	PCLO_HUMAN	0			4	4303	-	A	A			Missense_Mutation	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						
PCLO	27445	broad.mit.edu	GRCh37	7	82763793	82763793	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0169-01	TCGA-06-0169-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333891.9:c.3073A>G	p.Lys1025Glu	p.K1025E	ENST00000333891	NM_033026.5	1025	Aaa/Gaa	0			1			C	K/E	uc003uhx.2	protein_coding	YES	CCDS47630.1			3073/15429									ovary(7)	7	c.(3073-3075)AAA>GAA			hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6,Superfamily_domains:SSF57903	piccolo isoform 1				ENSP00000334319		25-Mar									COSM3412394,COSM3412395,COSM3412396	25-Mar	.		ENST00000333891	Transcript	1		cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	ENSG00000186472	g.chr7:82763793T>C	13406			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=793&re=992&var=K971E	NA	getma.org/?cm=var&var=hg19,7,82763793,T,C&fts=all	K971E	--	--	1																																		PCLO_uc003uhv.2_Missense_Mutation_p.K1025E	1,1,1	1		unknown(0)	p.K1025E	NM_033026	NP_149015			1,1,1	PCLO_HUMAN	PCLO	HGNC	Q9Y6V0	PCLO_HUMAN					3	3362	-			UPI0001573469	971			Pro-rich.		SNV	PCLO,missense_variant,p.Lys1025Glu,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Lys1025Glu,ENST00000423517,NM_014510.2;PCLO,non_coding_transcript_exon_variant,,ENST00000461143,;	uc003uhx.2	c.3073A>G	3411/20329	3	3			c.3073A>G						7	SNP	c.(3073-3075)AAA>GAA	55	55			ovary(7)	7	Broad	piccolo isoform 1			82763793		0.408	ENSG00000186472	11391	g.chr7:82763793T>C	cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity							50.874678	KEEP	11	8	-1	45	31	11	8	-1	58.018668	45	31	0.208791	1	0	0	0	0	1	0	0	0	--	--		0	C			PCLO_uc003uhv.2_Missense_Mutation_p.K1025E	34	GBM-06-0169-TP	p.K1025E	T	GGTGGCTTTTTTTCTGTTTCT	NM_033026	NP_149015	82763793	Q9Y6V0	PCLO_HUMAN	0			3	3362	-	C	C			Missense_Mutation	971			Pro-rich.			
PCLO	27445	broad.mit.edu	GRCh37	7	82595145	82595146	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0190-01	TCGA-06-0190-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333891.9:c.3958dup	p.Gln1320ProfsTer11	p.Q1320Pfs*11	ENST00000333891	NM_033026.5	1320	cag/cCag	0			1			G	Q/PX	uc003uhx.2	protein_coding	YES	CCDS47630.1			3958-3959/15429									ovary(7)	7	c.(3958-3960)CAGfs			hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6	piccolo isoform 1				ENSP00000334319		25-Apr	3.31E-05		8.65E-05		0.000153	3.01E-05			rs779262699	25-Apr	.		ENST00000333891	Transcript	1		cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	ENSG00000186472	g.chr7:82595145_82595146insG	13406			HIGH								--	--	1																																		PCLO_uc003uhv.2_Frame_Shift_Ins_p.Q1320fs		1			p.Q1320fs	NM_033026	NP_149015				PCLO_HUMAN	PCLO	HGNC	Q9Y6V0	PCLO_HUMAN					4	4247_4248	-			UPI0001573469	1259					insertion	PCLO,frameshift_variant,p.Gln1320ProfsTer11,ENST00000333891,NM_033026.5;PCLO,frameshift_variant,p.Gln1320ProfsTer11,ENST00000423517,NM_014510.2;PCLO,downstream_gene_variant,,ENST00000461143,;	uc003uhx.2	c.3958_3959insC	4296-4297/20329	5	5			c.3958_3959insC						7	INS	c.(3958-3960)CAGfs	42	42			ovary(7)	7	Broad	piccolo isoform 1			82595146		0.406	ENSG00000186472	11391	g.chr7:82595145_82595146insG	cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity																				0.04	1	0	0	1	1	0	0	0	0	--	--		0	G			PCLO_uc003uhv.2_Frame_Shift_Ins_p.Q1320fs	43	GBM-06-0190-TP	p.Q1320fs	-	TGGCTGTGGCTGTTCTTTTATT	NM_033026	NP_149015	82595145	Q9Y6V0	PCLO_HUMAN	0			4	4247_4248	-	G	G			Frame_Shift_Ins	1259						
PCLO	27445	broad.mit.edu	GRCh37	7	82581587	82581587	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0214-01	TCGA-06-0214-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333891.9:c.8682T>C	p.Asp2894=	p.D2894=	ENST00000333891	NM_033026.5	2894	gaT/gaC	0			1			G	D	uc003uhx.2	protein_coding	YES	CCDS47630.1			8682/15429									ovary(7)	7	c.(8680-8682)GAT>GAC			hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6	piccolo isoform 1				ENSP00000334319		25-May									COSM3412371,COSM3412372,COSM3412373	25-May	.		ENST00000333891	Transcript	1		cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	ENSG00000186472	g.chr7:82581587A>G	13406			LOW								--	--	1																																		PCLO_uc003uhv.2_Silent_p.D2894D|PCLO_uc010lec.2_5'Flank	1,1,1	1			p.D2894D	NM_033026	NP_149015			1,1,1	PCLO_HUMAN	PCLO	HGNC	Q9Y6V0	PCLO_HUMAN					5	8971	-			UPI0001573469	2825					SNV	PCLO,synonymous_variant,p.=,ENST00000333891,NM_033026.5;PCLO,synonymous_variant,p.=,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000437081,;	uc003uhx.2	c.8682T>C	9020/20329	3	3			c.8682T>C						7	SNP	c.(8680-8682)GAT>GAC	11	11			ovary(7)	7	Broad	piccolo isoform 1			82581587		0.438	ENSG00000186472	11391	g.chr7:82581587A>G	cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity							248.105516	KEEP	44	55	-1	164	186	44	55	-1	275.437065	164	186	0.22449	1	0	0	0	0	0	0	1	0	--	--		0	G			PCLO_uc003uhv.2_Silent_p.D2894D|PCLO_uc010lec.2_5'Flank	50	GBM-06-0214-TP	p.D2894D	A	CTACTTCCCCATCAGTGATTC	NM_033026	NP_149015	82581587	Q9Y6V0	PCLO_HUMAN	0			5	8971	-	G	G			Silent	2825						
PCLO	27445	broad.mit.edu	GRCh37	7	82581469	82581469	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333891.9:c.8800G>A	p.Ala2934Thr	p.A2934T	ENST00000333891	NM_033026.5	2934	Gca/Aca	0			1			T	A/T	uc003uhx.2	protein_coding	YES	CCDS47630.1			8800/15429									ovary(7)	7	c.(8800-8802)GCA>ACA			hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6	piccolo isoform 1				ENSP00000334319		25-May	8.28E-06							6.06E-05	rs769312224,COSM3412368,COSM3412369,COSM3412370	25-May	.		ENST00000333891	Transcript	1		cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	ENSG00000186472	g.chr7:82581469C>T	13406			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=1829&re=4439&var=A2865T	NA	getma.org/?cm=var&var=hg19,7,82581469,C,T&fts=all	A2865T	--	--	1																																		PCLO_uc003uhv.2_Missense_Mutation_p.A2934T|PCLO_uc010lec.2_5'Flank	0,1,1,1	1		unknown(0)	p.A2934T	NM_033026	NP_149015			0,1,1,1	PCLO_HUMAN	PCLO	HGNC	Q9Y6V0	PCLO_HUMAN					5	9089	-			UPI0001573469	2865					SNV	PCLO,missense_variant,p.Ala2934Thr,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Ala2934Thr,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000437081,;	uc003uhx.2	c.8800G>A	9138/20329	2	2			c.8800G>A						7	SNP	c.(8800-8802)GCA>ACA	33	33			ovary(7)	7	Broad	piccolo isoform 1			82581469		0.433	ENSG00000186472	11391	g.chr7:82581469C>T	cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity							40.34837	KEEP	22	16	-1	115	89	22	16	-1	66.819952	115	89	0.152838	1	0	0	0	0	1	0	0	0	--	--		0	T			PCLO_uc003uhv.2_Missense_Mutation_p.A2934T|PCLO_uc010lec.2_5'Flank	62	GBM-06-0649-TP	p.A2934T	C	CTTCTCCCTGCGGTTAAATCA	NM_033026	NP_149015	82581469	Q9Y6V0	PCLO_HUMAN	0			5	9089	-	T	T			Missense_Mutation	2865						
PCLO	27445	broad.mit.edu	GRCh37	7	82582186	82582186	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0749-01	TCGA-06-0749-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333891.9:c.8083del	p.Ser2695ProfsTer2	p.S2695Pfs*2	ENST00000333891	NM_033026.5	2695	Tcc/cc	0			1			-	S/X	uc003uhx.2	protein_coding	YES	CCDS47630.1			8083/15429									ovary(7)	7	c.(8083-8085)TCCfs			hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6	piccolo isoform 1				ENSP00000334319		25-May									COSM2151887,COSM2151886,COSM2151888	25-May	.		ENST00000333891	Transcript	1		cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	ENSG00000186472	g.chr7:82582186delA	13406			HIGH								--	--	1																																		PCLO_uc003uhv.2_Frame_Shift_Del_p.S2695fs|PCLO_uc010lec.2_5'Flank	1,1,1	1			p.S2695fs	NM_033026	NP_149015			1,1,1	PCLO_HUMAN	PCLO	HGNC	Q9Y6V0	PCLO_HUMAN					5	8372	-			UPI0001573469	2626					deletion	PCLO,frameshift_variant,p.Ser2695ProfsTer2,ENST00000333891,NM_033026.5;PCLO,frameshift_variant,p.Ser2695ProfsTer2,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000437081,;	uc003uhx.2	c.8083delT	8421/20329	5	5			c.8083delT						7	DEL	c.(8083-8085)TCCfs	63	63			ovary(7)	7	Broad	piccolo isoform 1			82582186		0.413	ENSG00000186472	11391	g.chr7:82582186delA	cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity																				0.26	1	1	0	1	0	0	0	0	0	--	--		0	-			PCLO_uc003uhv.2_Frame_Shift_Del_p.S2695fs|PCLO_uc010lec.2_5'Flank	69	GBM-06-0749-TP	p.S2695fs	A	ATTGTTATGGAAATGCTGCTG	NM_033026	NP_149015	82582186	Q9Y6V0	PCLO_HUMAN	0			5	8372	-	-	-			Frame_Shift_Del	2626						
PCLO	27445	broad.mit.edu	GRCh37	7	82387898	82387898	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01	TCGA-06-2563-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333891.9:c.15422C>T	p.Thr5141Met	p.T5141M	ENST00000333891	NM_033026.5	5141	aCg/aTg	0			1			A	T/M	uc003uhx.2	protein_coding	YES	CCDS47630.1			15422/15429									ovary(7)	7	c.(15421-15423)ACG>ATG			hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6	piccolo isoform 1				ENSP00000334319		25/25									COSM3412350,COSM3412351	25/25	.		ENST00000333891	Transcript	1		cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	ENSG00000186472	g.chr7:82387898G>A	13406			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=5010&re=5065&var=T5064M	NA	getma.org/?cm=var&var=hg19,7,82387898,G,A&fts=all	T5064M	--	--	1																																			1,1	1		unknown(0)	p.T5141M	NM_033026	NP_149015			1,1	PCLO_HUMAN	PCLO	HGNC	Q9Y6V0	PCLO_HUMAN					25	15711	-			UPI0001573469	5064					SNV	PCLO,missense_variant,p.Thr5141Met,ENST00000333891,NM_033026.5;	uc003uhx.2	c.15422C>T	15760/20329	2	2			c.15422C>T						7	SNP	c.(15421-15423)ACG>ATG	24	24			ovary(7)	7	Broad	piccolo isoform 1			82387898		0.378	ENSG00000186472	11391	g.chr7:82387898G>A	cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity							428.62381	KEEP	99	82	-1	255	259	99	82	-1	459.300788	255	259	0.263591	1	0	0	0	0	1	0	0	0	--	--		0	A				86	GBM-06-2563-TP	p.T5141M	G	TCTTCAATGCGTTTGAGTAGG	NM_033026	NP_149015	82387898	Q9Y6V0	PCLO_HUMAN	0			25	15711	-	A	A			Missense_Mutation	5064						
PCLO	0	broad.mit.edu	GRCh37	7	82595087	82595087	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C			TCGA-06-6700-01	TCGA-06-6700-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333891.9:c.4017A>G	p.Thr1339=	p.T1339=	ENST00000333891	NM_033026.5	1339	acA/acG	0			1			C	T	uc003uhx.2	protein_coding	YES	CCDS47630.1			4017/15429									ovary(7)	7	c.(4015-4017)ACA>ACG			hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6,Low_complexity_(Seg):seg	piccolo isoform 1				ENSP00000334319		25-Apr									COSM3412392,COSM3412393	25-Apr	.		ENST00000333891	Transcript	1		cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	ENSG00000186472	g.chr7:82595087T>C	13406			LOW								--	--	1																																		PCLO_uc003uhv.2_Silent_p.T1339T	1,1	1			p.T1339T	NM_033026	NP_149015			1,1	PCLO_HUMAN	PCLO	HGNC	Q9Y6V0	PCLO_HUMAN					4	4306	-			UPI0001573469	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					SNV	PCLO,splice_region_variant,p.=,ENST00000333891,NM_033026.5;PCLO,splice_region_variant,p.=,ENST00000423517,NM_014510.2;PCLO,downstream_gene_variant,,ENST00000461143,;	uc003uhx.2	c.4017A>G	4355/20329	3	3			c.4017A>G						7	SNP	c.(4015-4017)ACA>ACG	15	15			ovary(7)	7	Broad	piccolo isoform 1			82595087		0.338	ENSG00000186472	11391	g.chr7:82595087T>C	cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity							54.55796	KEEP	15	9	-1	51	42	15	9	-1	63.580269	51	42	0.205357	1	0	0	0	0	0	0	1	0	--	--		0	C			PCLO_uc003uhv.2_Silent_p.T1339T	114	GBM-06-6700-TP	p.T1339T	T	TTTAACTTACTGTTTTTTCTT	NM_033026	NP_149015	82595087	Q9Y6V0	PCLO_HUMAN	0			4	4306	-	C	C			Silent	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						
PCLO	0	broad.mit.edu	GRCh37	7	82508670	82508670	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333891.9:c.13637C>T	p.Thr4546Met	p.T4546M	ENST00000333891	NM_033026.5	4546	aCg/aTg	0		A:0	1	A:0		A	T/M	uc003uhx.2	protein_coding	YES	CCDS47630.1			13637/15429									ovary(7)	7	c.(13636-13638)ACG>ATG			Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6,SMART_domains:SM00228,Superfamily_domains:SSF50156	piccolo isoform 1		A:0		ENSP00000334319	A:0	25-Oct	7.45E-05		9.18E-05			7.96E-05		0.000132	rs576824740,COSM3412356,COSM197162	25-Oct	.		ENST00000333891	Transcript	1	A:0.0002	cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	ENSG00000186472	g.chr7:82508670G>A	13406			MODERATE		2.305	medium	getma.org/?cm=msa&ty=f&p=H0Y3F8_HUMAN&rb=1&re=200&var=T42M	getma.org/pdb.php?prot=H0Y3F8_HUMAN&from=1&to=200&var=T42M	getma.org/?cm=var&var=hg19,7,82508670,G,A&fts=all	T42M	--	--	1																																		PCLO_uc003uhv.2_Missense_Mutation_p.T4546M|PCLO_uc003uht.1_Translation_Start_Site|PCLO_uc003uhu.1_Translation_Start_Site	0,1,1	1		unknown(0)	p.T4546M	NM_033026	NP_149015	A:0.001		0,1,1	PCLO_HUMAN	PCLO	HGNC	Q9Y6V0	PCLO_HUMAN					10	13926	-			UPI0001573469	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					SNV	PCLO,missense_variant,p.Thr4546Met,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Thr4546Met,ENST00000423517,NM_014510.2;PCLO,non_coding_transcript_exon_variant,,ENST00000426442,;PCLO,missense_variant,p.Thr37Met,ENST00000413807,;PCLO,missense_variant,p.Thr37Met,ENST00000456006,;	uc003uhx.2	c.13637C>T	13975/20329	1	1			c.13637C>T						7	SNP	c.(13636-13638)ACG>ATG	56	56			ovary(7)	7	Broad	piccolo isoform 1			82508670		0.358	ENSG00000186472	11391	g.chr7:82508670G>A	cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity							39.028243	KEEP	8	9	-1	23	18	8	9	-1	41.363617	23	18	0.27451	1	0	0	0	0	1	0	0	0	--	--		0	A			PCLO_uc003uhv.2_Missense_Mutation_p.T4546M|PCLO_uc003uht.1_Translation_Start_Site|PCLO_uc003uhu.1_Translation_Start_Site	125	GBM-12-3649-TP	p.T4546M	G	AAGCTTCCCCGTCTGTTCCGC	NM_033026	NP_149015	82508670	Q9Y6V0	PCLO_HUMAN	0			10	13926	-	A	A			Missense_Mutation	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						
PCLO	0	broad.mit.edu	GRCh37	7	82579939	82579939	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-14-0781-01	TCGA-14-0781-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333891.9:c.9965C>A	p.Pro3322His	p.P3322H	ENST00000333891	NM_033026.5	3322	cCt/cAt	0			1			T	P/H	uc003uhx.2	protein_coding	YES	CCDS47630.1			9965/15429									ovary(7)	7	c.(9964-9966)CCT>CAT			hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6	piccolo isoform 1				ENSP00000334319		25-Jun	8.27E-06							6.06E-05	rs754889252,COSM3412362,COSM3412363,COSM3412364	25-Jun	.		ENST00000333891	Transcript	1		cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	ENSG00000186472	g.chr7:82579939G>T	13406			MODERATE		2.005	medium	getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=1829&re=4439&var=P3253H	NA	getma.org/?cm=var&var=hg19,7,82579939,G,T&fts=all	P3253H	--	--	1																																		PCLO_uc003uhv.2_Missense_Mutation_p.P3322H|PCLO_uc010lec.2_Missense_Mutation_p.P287H	0,1,1,1	1		unknown(0)	p.P3322H	NM_033026	NP_149015			0,1,1,1	PCLO_HUMAN	PCLO	HGNC	Q9Y6V0	PCLO_HUMAN					6	10254	-			UPI0001573469	3253					SNV	PCLO,missense_variant,p.Pro3322His,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Pro3322His,ENST00000423517,NM_014510.2;PCLO,missense_variant,p.Pro42His,ENST00000437081,;	uc003uhx.2	c.9965C>A	10303/20329	1	1			c.9965C>A						7	SNP	c.(9964-9966)CCT>CAT	1	1			ovary(7)	7	Broad	piccolo isoform 1			82579939		0.478	ENSG00000186472	11391	g.chr7:82579939G>T	cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity							-3.77318	KEEP	5	6	0.454545455	70	73	5	6	0.454545455	21.649204	70	73	0.078571	1	0	0	0	0	1	0	0	0	--	--		0	T			PCLO_uc003uhv.2_Missense_Mutation_p.P3322H|PCLO_uc010lec.2_Missense_Mutation_p.P287H	133	GBM-14-0781-TP	p.P3322H	G	AGTTCCAGAAGGGTCATAGTT	NM_033026	NP_149015	82579939	Q9Y6V0	PCLO_HUMAN	0			6	10254	-	T	T			Missense_Mutation	3253						
PCLO	0	broad.mit.edu	GRCh37	7	82581607	82581607	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01	TCGA-19-2619-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333891.9:c.8662G>A	p.Val2888Ile	p.V2888I	ENST00000333891	NM_033026.5	2888	Gta/Ata	0		T:0	1	T:0		T	V/I	uc003uhx.2	protein_coding	YES	CCDS47630.1			8662/15429									ovary(7)	7	c.(8662-8664)GTA>ATA			hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6	piccolo isoform 1		T:0		ENSP00000334319	T:0	25-May	0.00109	0.000102	8.64E-05			4.50E-05		0.00769	rs529385259,COSM3412374,COSM3412375,COSM3412376	25-May	common_variant		ENST00000333891	Transcript	1	T:0.0030	cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	ENSG00000186472	g.chr7:82581607C>T	13406			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=1829&re=4439&var=V2819I	NA	getma.org/?cm=var&var=hg19,7,82581607,C,T&fts=all	V2819I	--	--	1																																		PCLO_uc003uhv.2_Missense_Mutation_p.V2888I|PCLO_uc010lec.2_5'Flank	0,1,1,1	1		unknown(0)	p.V2888I	NM_033026	NP_149015	T:0.0153		0,1,1,1	PCLO_HUMAN	PCLO	HGNC	Q9Y6V0	PCLO_HUMAN					5	8951	-			UPI0001573469	2819					SNV	PCLO,missense_variant,p.Val2888Ile,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Val2888Ile,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000437081,;	uc003uhx.2	c.8662G>A	9000/20329	1	1			c.8662G>A						7	SNP	c.(8662-8664)GTA>ATA	1	1			ovary(7)	7	Broad	piccolo isoform 1			82581607		0.463	ENSG00000186472	11391	g.chr7:82581607C>T	cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity							255.351895	KEEP	47	51	-1	132	131	47	51	-1	271.256816	132	131	0.273256	1	0	0	0	0	1	0	0	0	--	--		0	T			PCLO_uc003uhv.2_Missense_Mutation_p.V2888I|PCLO_uc010lec.2_5'Flank	161	GBM-19-2619-TP	p.V2888I	C	CCCTGGGATACGGTGCTATCA	NM_033026	NP_149015	82581607	Q9Y6V0	PCLO_HUMAN	0			5	8951	-	T	T			Missense_Mutation	2819						
PCLO	0	broad.mit.edu	GRCh37	7	82785272	82785272	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-26-5134-01	TCGA-26-5134-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333891.9:c.685C>A	p.Pro229Thr	p.P229T	ENST00000333891	NM_033026.5	229	Ccg/Acg	0			1			T	P/T	uc003uhx.2	protein_coding	YES	CCDS47630.1			685/15429									ovary(7)	7	c.(685-687)CCG>ACG			hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6	piccolo isoform 1				ENSP00000334319		25-Feb									COSM3412412,COSM3412413,COSM3412414	25-Feb	.		ENST00000333891	Transcript	1		cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	ENSG00000186472	g.chr7:82785272G>T	13406			MODERATE		0.11	neutral	getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=214&re=489&var=P229T	NA	getma.org/?cm=var&var=hg19,7,82785272,G,T&fts=all	P229T	--	--	1																																		PCLO_uc003uhv.2_Missense_Mutation_p.P229T	1,1,1	1		unknown(0)	p.P229T	NM_033026	NP_149015			1,1,1	PCLO_HUMAN	PCLO	HGNC	Q9Y6V0	PCLO_HUMAN					2	974	-			UPI0001573469	229			Gln-rich.|Pro-rich.		SNV	PCLO,missense_variant,p.Pro229Thr,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Pro229Thr,ENST00000423517,NM_014510.2;	uc003uhx.2	c.685C>A	1023/20329	1	1			c.685C>A						7	SNP	c.(685-687)CCG>ACG	16	16			ovary(7)	7	Broad	piccolo isoform 1			82785272		0.463	ENSG00000186472	11391	g.chr7:82785272G>T	cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity							85.063541	KEEP	17	20	0.459459459	25	15	17	20	0.459459459	85.228161	25	15	0.446154	1	0	0	0	0	1	0	0	0	--	--		0	T			PCLO_uc003uhv.2_Missense_Mutation_p.P229T	183	GBM-26-5134-TP	p.P229T	G	TGCTGAAGCGGATCCCTACCA	NM_033026	NP_149015	82785272	Q9Y6V0	PCLO_HUMAN	0			2	974	-	T	T			Missense_Mutation	229			Gln-rich.|Pro-rich.			
PCLO	0	broad.mit.edu	GRCh37	7	82474620	82474620	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333891.9:c.14013C>T	p.Pro4671=	p.P4671=	ENST00000333891	NM_033026.5	4671	ccC/ccT	0			1			A	P	uc003uhx.2	protein_coding	YES	CCDS47630.1			14013/15429									ovary(7)	7	c.(14011-14013)CCC>CCT			hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6,Low_complexity_(Seg):seg	piccolo isoform 1				ENSP00000334319		13/25									COSM3412354,COSM3412355	13/25	.		ENST00000333891	Transcript	1		cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	ENSG00000186472	g.chr7:82474620G>A	13406			LOW								--	--	1																																		PCLO_uc003uhv.2_Silent_p.P4671P|PCLO_uc003uht.1_Silent_p.P122P|PCLO_uc003uhu.1_Silent_p.P101P	1,1	1			p.P4671P	NM_033026	NP_149015			1,1	PCLO_HUMAN	PCLO	HGNC	Q9Y6V0	PCLO_HUMAN					13	14302	-			UPI0001573469	4559					SNV	PCLO,synonymous_variant,p.=,ENST00000333891,NM_033026.5;PCLO,synonymous_variant,p.=,ENST00000423517,NM_014510.2;PCLO,non_coding_transcript_exon_variant,,ENST00000426442,;PCLO,3_prime_UTR_variant,,ENST00000413807,;PCLO,downstream_gene_variant,,ENST00000456006,;	uc003uhx.2	c.14013C>T	14351/20329	2	2			c.14013C>T						7	SNP	c.(14011-14013)CCC>CCT	48	48			ovary(7)	7	Broad	piccolo isoform 1			82474620		0.488	ENSG00000186472	11391	g.chr7:82474620G>A	cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity							101.905796	KEEP	17	24	-1	54	74	17	24	-1	109.277919	54	74	0.260563	1	0	0	0	0	0	0	1	0	--	--		0	A			PCLO_uc003uhv.2_Silent_p.P4671P|PCLO_uc003uht.1_Silent_p.P122P|PCLO_uc003uhu.1_Silent_p.P101P	197	GBM-27-1838-TP	p.P4671P	G	TGCTCACTGAGGGGGACCCTG	NM_033026	NP_149015	82474620	Q9Y6V0	PCLO_HUMAN	0			13	14302	-	A	A			Silent	4559						
PCLO	0	broad.mit.edu	GRCh37	7	82584287	82584287	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-27-2524-01	TCGA-27-2524-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333891.9:c.5982A>G	p.Arg1994=	p.R1994=	ENST00000333891	NM_033026.5	1994	agA/agG	0			1			C	R	uc003uhx.2	protein_coding	YES	CCDS47630.1			5982/15429									ovary(7)	7	c.(5980-5982)AGA>AGG			hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6	piccolo isoform 1				ENSP00000334319		25-May									COSM3412383,COSM3412384,COSM3412385	25-May	.		ENST00000333891	Transcript	1		cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	ENSG00000186472	g.chr7:82584287T>C	13406			LOW								--	--	1																																		PCLO_uc003uhv.2_Silent_p.R1994R	1,1,1	1			p.R1994R	NM_033026	NP_149015			1,1,1	PCLO_HUMAN	PCLO	HGNC	Q9Y6V0	PCLO_HUMAN					5	6271	-			UPI0001573469	1925					SNV	PCLO,synonymous_variant,p.=,ENST00000333891,NM_033026.5;PCLO,synonymous_variant,p.=,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000437081,;	uc003uhx.2	c.5982A>G	6320/20329	3	3			c.5982A>G						7	SNP	c.(5980-5982)AGA>AGG	14	14			ovary(7)	7	Broad	piccolo isoform 1			82584287		0.388	ENSG00000186472	11391	g.chr7:82584287T>C	cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity							-122.744981	KEEP	3	3	-1	273	252	3	3	-1	10.213056	273	252	0.010373	1	0	0	0	0	0	0	1	0	--	--		0	C			PCLO_uc003uhv.2_Silent_p.R1994R	202	GBM-27-2524-TP	p.R1994R	T	GTTCTGAAAGTCTTATCTTTT	NM_033026	NP_149015	82584287	Q9Y6V0	PCLO_HUMAN	0			5	6271	-	C	C			Silent	1925						
PCLO	0	broad.mit.edu	GRCh37	7	82585035	82585035	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-1747-01	TCGA-28-1747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333891.9:c.5234C>T	p.Pro1745Leu	p.P1745L	ENST00000333891	NM_033026.5	1745	cCg/cTg	0			1			A	P/L	uc003uhx.2	protein_coding	YES	CCDS47630.1			5234/15429									ovary(7)	7	c.(5233-5235)CCG>CTG			hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6,Low_complexity_(Seg):seg	piccolo isoform 1				ENSP00000334319		25-May	8.27E-06					1.50E-05			rs764070940,COSM3412386,COSM3412387,COSM3412388	25-May	.		ENST00000333891	Transcript	1		cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	ENSG00000186472	g.chr7:82585035G>A	13406			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=1647&re=1676&var=P1676L	NA	getma.org/?cm=var&var=hg19,7,82585035,G,A&fts=all	P1676L	--	--	1																																		PCLO_uc003uhv.2_Missense_Mutation_p.P1745L	0,1,1,1	1		unknown(0)	p.P1745L	NM_033026	NP_149015			0,1,1,1	PCLO_HUMAN	PCLO	HGNC	Q9Y6V0	PCLO_HUMAN					5	5523	-			UPI0001573469	1676					SNV	PCLO,missense_variant,p.Pro1745Leu,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Pro1745Leu,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000437081,;	uc003uhx.2	c.5234C>T	5572/20329	2	2			c.5234C>T						7	SNP	c.(5233-5235)CCG>CTG	29	29			ovary(7)	7	Broad	piccolo isoform 1			82585035		0.488	ENSG00000186472	11391	g.chr7:82585035G>A	cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity							283.184041	KEEP	72	49	-1	201	148	72	49	-1	303.184223	201	148	0.261538	1	0	0	0	0	1	0	0	0	--	--		0	A			PCLO_uc003uhv.2_Missense_Mutation_p.P1745L	206	GBM-28-1747-TP	p.P1745L	G	TTTGTGACTCGGGCTACTGTC	NM_033026	NP_149015	82585035	Q9Y6V0	PCLO_HUMAN	0			5	5523	-	A	A			Missense_Mutation	1676						
PCLO	0	broad.mit.edu	GRCh37	7	82784650	82784650	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01	TCGA-28-5219-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333891.9:c.1307C>T	p.Pro436Leu	p.P436L	ENST00000333891	NM_033026.5	436	cCt/cTt	0			1			A	P/L	uc003uhx.2	protein_coding	YES	CCDS47630.1			1307/15429									ovary(7)	7	c.(1306-1308)CCT>CTT			hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6	piccolo isoform 1				ENSP00000334319		25-Feb									COSM3412409,COSM3412410,COSM3412411	25-Feb	.		ENST00000333891	Transcript	1		cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	ENSG00000186472	g.chr7:82784650G>A	13406			MODERATE		1.385	low	getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=214&re=489&var=P436L	NA	getma.org/?cm=var&var=hg19,7,82784650,G,A&fts=all	P436L	--	--	1																																		PCLO_uc003uhv.2_Missense_Mutation_p.P436L	1,1,1	1		possibly_damaging(0.851)	p.P436L	NM_033026	NP_149015			1,1,1	PCLO_HUMAN	PCLO	HGNC	Q9Y6V0	PCLO_HUMAN					2	1596	-			UPI0001573469	388			Gln-rich.|Pro-rich.		SNV	PCLO,missense_variant,p.Pro436Leu,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Pro436Leu,ENST00000423517,NM_014510.2;	uc003uhx.2	c.1307C>T	1645/20329	2	2			c.1307C>T						7	SNP	c.(1306-1308)CCT>CTT	27	27			ovary(7)	7	Broad	piccolo isoform 1			82784650		0.587	ENSG00000186472	11391	g.chr7:82784650G>A	cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity							102.142617	KEEP	19	45	-1	230	201	19	45	-1	162.209353	230	201	0.132898	1	0	0	0	0	1	0	0	0	--	--		0	A			PCLO_uc003uhv.2_Missense_Mutation_p.P436L	225	GBM-28-5219-TP	p.P436L	G	AGTCTTTGTAGGCCCAGGTGC	NM_033026	NP_149015	82784650	Q9Y6V0	PCLO_HUMAN	0			2	1596	-	A	A			Missense_Mutation	388			Gln-rich.|Pro-rich.			
PCLO	0	broad.mit.edu	GRCh37	7	82764629	82764629	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-1986-01	TCGA-32-1986-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333891.9:c.2237A>G	p.Lys746Arg	p.K746R	ENST00000333891	NM_033026.5	746	aAg/aGg	0			1			C	K/R	uc003uhx.2	protein_coding	YES	CCDS47630.1			2237/15429									ovary(7)	7	c.(2236-2238)AAG>AGG			hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6	piccolo isoform 1				ENSP00000334319		25-Mar									COSM3412397,COSM3412398,COSM3412399	25-Mar	.		ENST00000333891	Transcript	1		cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	ENSG00000186472	g.chr7:82764629T>C	13406			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=593&re=792&var=K692R	NA	getma.org/?cm=var&var=hg19,7,82764629,T,C&fts=all	K692R	--	--	1																																		PCLO_uc003uhv.2_Missense_Mutation_p.K746R	1,1,1	1		unknown(0)	p.K746R	NM_033026	NP_149015			1,1,1	PCLO_HUMAN	PCLO	HGNC	Q9Y6V0	PCLO_HUMAN					3	2526	-			UPI0001573469	692			Pro-rich.		SNV	PCLO,missense_variant,p.Lys746Arg,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Lys746Arg,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000461143,;	uc003uhx.2	c.2237A>G	2575/20329	3	3			c.2237A>G						7	SNP	c.(2236-2238)AAG>AGG	8	8			ovary(7)	7	Broad	piccolo isoform 1			82764629		0.512	ENSG00000186472	11391	g.chr7:82764629T>C	cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity							78.604358	KEEP	16	19	-1	93	105	16	19	-1	104.376722	93	105	0.152466	1	0	0	0	0	1	0	0	0	--	--		0	C			PCLO_uc003uhv.2_Missense_Mutation_p.K746R	233	GBM-32-1986-TP	p.K746R	T	AACAGGGGCCTTGTCCTGCTC	NM_033026	NP_149015	82764629	Q9Y6V0	PCLO_HUMAN	0			3	2526	-	C	C			Missense_Mutation	692			Pro-rich.			
PCLO	0	broad.mit.edu	GRCh37	7	82585982	82585982	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-32-5222-01	TCGA-32-5222-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333891.9:c.4287T>C	p.Asp1429=	p.D1429=	ENST00000333891	NM_033026.5	1429	gaT/gaC	0			1			G	D	uc003uhx.2	protein_coding	YES	CCDS47630.1			4287/15429									ovary(7)	7	c.(4285-4287)GAT>GAC			hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6	piccolo isoform 1				ENSP00000334319		25-May									COSM3412389,COSM3412390,COSM3412391	25-May	.		ENST00000333891	Transcript	1		cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	ENSG00000186472	g.chr7:82585982A>G	13406			LOW								--	--	1																																		PCLO_uc003uhv.2_Silent_p.D1429D	1,1,1	1			p.D1429D	NM_033026	NP_149015			1,1,1	PCLO_HUMAN	PCLO	HGNC	Q9Y6V0	PCLO_HUMAN					5	4576	-			UPI0001573469	1360					SNV	PCLO,synonymous_variant,p.=,ENST00000333891,NM_033026.5;PCLO,synonymous_variant,p.=,ENST00000423517,NM_014510.2;	uc003uhx.2	c.4287T>C	4625/20329	3	3			c.4287T>C						7	SNP	c.(4285-4287)GAT>GAC	10	10			ovary(7)	7	Broad	piccolo isoform 1			82585982		0.398	ENSG00000186472	11391	g.chr7:82585982A>G	cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity							146.874764	KEEP	31	32	-1	103	101	31	32	-1	162.870544	103	101	0.231405	1	0	0	0	0	0	0	1	0	--	--		0	G			PCLO_uc003uhv.2_Silent_p.D1429D	249	GBM-32-5222-TP	p.D1429D	A	CTGACTTTTCATCAGCAAGTG	NM_033026	NP_149015	82585982	Q9Y6V0	PCLO_HUMAN	0			5	4576	-	G	G			Silent	1360						
PCLO	0	broad.mit.edu	GRCh37	7	82764222	82764222	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6192-01	TCGA-76-6192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333891.9:c.2644C>T	p.Arg882Ter	p.R882*	ENST00000333891	NM_033026.5	882	Cga/Tga	0			1			A	R/*	uc003uhx.2	protein_coding	YES	CCDS47630.1			2644/15429									ovary(7)	7	c.(2644-2646)CGA>TGA			hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6,Low_complexity_(Seg):seg	piccolo isoform 1				ENSP00000334319		25-Mar									COSM1452439,COSM1452438,COSM1452440	25-Mar	.		ENST00000333891	Transcript	1		cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	ENSG00000186472	g.chr7:82764222G>A	13406			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,82764222,G,A&fts=all	R828*	--	--	1																																		PCLO_uc003uhv.2_Nonsense_Mutation_p.R882*	1,1,1	1			p.R882*	NM_033026	NP_149015			1,1,1	PCLO_HUMAN	PCLO	HGNC	Q9Y6V0	PCLO_HUMAN					3	2933	-			UPI0001573469	828			Pro-rich.		SNV	PCLO,stop_gained,p.Arg882Ter,ENST00000333891,NM_033026.5;PCLO,stop_gained,p.Arg882Ter,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000461143,;	uc003uhx.2	c.2644C>T	2982/20329	5	2			c.2644C>T						7	SNP	c.(2644-2646)CGA>TGA	19	19			ovary(7)	7	Broad	piccolo isoform 1			82764222		0.517	ENSG00000186472	11391	g.chr7:82764222G>A	cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity							211.909705	KEEP	51	56	-1	191	186	51	56	-1	240.046747	191	186	0.223881	1	0	0	0	0	0	1	0	0	--	--		0	A			PCLO_uc003uhv.2_Nonsense_Mutation_p.R882*	275	GBM-76-6192-TP	p.R882*	G	GCGGTAGGTCGTGGGCCAGGG	NM_033026	NP_149015	82764222	Q9Y6V0	PCLO_HUMAN	0			3	2933	-	A	A			Nonsense_Mutation	828			Pro-rich.			
PCLO	27445		GRCh37	7	82579889	82579889	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000333891.9:c.10015G>T	p.Gly3339Cys	p.G3339C	ENST00000333891	NM_033026.5	3339	Ggt/Tgt	0																																																																																																																																																																																																																																												
PCLO	27445		GRCh37	7	82784328	82784328	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000333891.9:c.1629G>A	p.Gln543=	p.Q543=	ENST00000333891	NM_033026.5	543	caG/caA	0																																																																																																																																																																																																																																												
PCLO	27445		GRCh37	7	82595385	82595385	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000333891.9:c.3719del	p.Lys1240SerfsTer78	p.K1240Sfs*78	ENST00000333891	NM_033026.5	1240	aAg/ag	0																																																																																																																																																																																																																																												
PCLO	27445		GRCh37	7	82580167	82580167	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000333891.9:c.9737G>A	p.Arg3246Gln	p.R3246Q	ENST00000333891	NM_033026.5	3246	cGa/cAa	0																																																																																																																																																																																																																																												
PCLO	27445		GRCh37	7	82584801	82584801	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000333891.9:c.5468C>T	p.Pro1823Leu	p.P1823L	ENST00000333891	NM_033026.5	1823	cCa/cTa	0																																																																																																																																																																																																																																												
PCLO	27445		GRCh37	7	82583736	82583736	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000333891.9:c.6533C>A	p.Pro2178His	p.P2178H	ENST00000333891	NM_033026.5	2178	cCc/cAc	0																																																																																																																																																																																																																																												
PCLO	27445		GRCh37	7	82784468	82784468	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000333891.9:c.1489G>A	p.Ala497Thr	p.A497T	ENST00000333891	NM_033026.5	497	Gca/Aca	0																																																																																																																																																																																																																																												
PCM1	5108	broad.mit.edu	GRCh37	8	17872225	17872226	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-06-0192-01	TCGA-06-0192-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325083.8:c.5718dup	p.Arg1907ThrfsTer4	p.R1907Tfs*4	ENST00000325083	NM_006197.3	1906	tta/ttAa	0			1			A	L/LX	uc003wyi.3	protein_coding	YES	CCDS47812.1			5717-5718/6075	T		RET|JAK2		papillary thyroid|CML|MPD		PCM1/JAK2(30)		haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36	c.(5716-5718)TTAfs			Low_complexity_(Seg):seg,hmmpanther:PTHR14164,hmmpanther:PTHR14164:SF12	pericentriolar material 1				ENSP00000327077		36/39										36/39	.		ENST00000325083	Transcript	1		centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	ENSG00000078674	g.chr8:17872225_17872226insA	8727	1		HIGH								--	--	1																																		PCM1_uc011kyh.1_Frame_Shift_Ins_p.L1898fs|PCM1_uc003wyj.3_Intron|PCM1_uc011kyi.1_Frame_Shift_Ins_p.L705fs|PCM1_uc011kyj.1_Frame_Shift_Ins_p.L662fs|PCM1_uc003wyk.3_Frame_Shift_Ins_p.L588fs|PCM1_uc011kyk.1_Frame_Shift_Ins_p.L522fs		1			p.L1906fs	NM_006197	NP_006188				PCM1_HUMAN	PCM1	HGNC	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	E5RGQ4_HUMAN		36	6139_6140	+			UPI0000210A25	1906					insertion	PCM1,frameshift_variant,p.Arg1907ThrfsTer4,ENST00000325083,NM_006197.3;PCM1,frameshift_variant,p.Arg1899ThrfsTer4,ENST00000519253,;PCM1,frameshift_variant,p.Arg606ThrfsTer4,ENST00000327578,;PCM1,frameshift_variant,p.Arg647ThrfsTer4,ENST00000522275,;PCM1,intron_variant,,ENST00000524226,;PCM1,non_coding_transcript_exon_variant,,ENST00000524203,;PCM1,non_coding_transcript_exon_variant,,ENST00000519802,;PCM1,intron_variant,,ENST00000518877,;	uc003wyi.3	c.5717_5718insA	6156-6157/6820	5	5			c.5717_5718insA	T		RET|JAK2		papillary thyroid|CML|MPD	8	INS	c.(5716-5718)TTAfs	64	64	PCM1/JAK2(30)		haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36	Broad	pericentriolar material 1			17872226		0.436	ENSG00000078674	11392	g.chr8:17872225_17872226insA	centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding			797			797														0.42	1	0	0	1	1	0	0	0	0	--	--		0	A			PCM1_uc011kyh.1_Frame_Shift_Ins_p.L1898fs|PCM1_uc003wyj.3_Intron|PCM1_uc011kyi.1_Frame_Shift_Ins_p.L705fs|PCM1_uc011kyj.1_Frame_Shift_Ins_p.L662fs|PCM1_uc003wyk.3_Frame_Shift_Ins_p.L588fs|PCM1_uc011kyk.1_Frame_Shift_Ins_p.L522fs	44	GBM-06-0192-TP	p.L1906fs	-	CCTTTGCCGTTACGTTTACCTG	NM_006197	NP_006188	17872225	Q15154	PCM1_HUMAN	0		Colorectal(111;0.0789)	36	6139_6140	+	A	A			Frame_Shift_Ins	1906						
PCMTD1	115294	broad.mit.edu	GRCh37	8	52733157	52733157	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0155-01	TCGA-06-0155-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360540.5:c.828G>T	p.Arg276Ser	p.R276S	ENST00000360540	NM_052937.3	276	agG/agT	0			1			A	R/S	uc003xqx.3	protein_coding	YES	CCDS6148.1			828/1074										0	c.(826-828)AGG>AGT			Low_complexity_(Seg):seg,hmmpanther:PTHR11579,hmmpanther:PTHR11579:SF4,Superfamily_domains:SSF53335	protein-L-isoaspartate (D-aspartate)				ENSP00000353739		7-Jul									COSM2718595	7-Jul	.		ENST00000360540	Transcript				cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	ENSG00000168300	g.chr8:52733157C>A	30483			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=PCMD1_HUMAN&rb=225&re=357&var=R276S	NA	getma.org/?cm=var&var=hg19,8,52733157,C,A&fts=all	R276S	--	--	1																																		PCMTD1_uc011ldm.1_Missense_Mutation_p.R146S|PCMTD1_uc003xqw.3_Missense_Mutation_p.R276S|PCMTD1_uc011ldn.1_Missense_Mutation_p.R88S|PCMTD1_uc010lya.2_Missense_Mutation_p.R200S	1	1		benign(0.071)	p.R276S	NM_052937	NP_443169		tolerated(0.06)	1	PCMD1_HUMAN	PCMTD1	HGNC	Q96MG8	PCMD1_HUMAN					6	1169	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	UPI0000047CC0	276					SNV	PCMTD1,missense_variant,p.Arg276Ser,ENST00000360540,NM_052937.3;PCMTD1,missense_variant,p.Arg200Ser,ENST00000544451,NM_001286783.1,NM_001286782.1;PCMTD1,missense_variant,p.Arg276Ser,ENST00000522514,;AC090186.1,downstream_gene_variant,,ENST00000415643,;PCMTD1,non_coding_transcript_exon_variant,,ENST00000519559,;	uc003xqx.3	c.828G>T	1235/4252	2	2			c.828G>T						8	SNP	c.(826-828)AGG>AGT	33	33				0	Broad	protein-L-isoaspartate (D-aspartate)			52733157		0.368	ENSG00000168300	11394	g.chr8:52733157C>A		cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity							-49.362353	KEEP	9	12	0.571428571	225	291	9	12	0.571428571	26.019151	225	291	0.044248	1	0	0	0	0	1	0	0	0	--	--		0	A			PCMTD1_uc011ldm.1_Missense_Mutation_p.R146S|PCMTD1_uc003xqw.3_Missense_Mutation_p.R276S|PCMTD1_uc011ldn.1_Missense_Mutation_p.R88S|PCMTD1_uc010lya.2_Missense_Mutation_p.R200S	27	GBM-06-0155-TP	p.R276S	C	TCTTTCTTTTCCTTTTGGGTG	NM_052937	NP_443169	52733157	Q96MG8	PCMD1_HUMAN	0			6	1169	-	A	A		Lung NSC(129;0.0795)|all_lung(136;0.144)	Missense_Mutation	276						
PCMTD1	115294	broad.mit.edu	GRCh37	8	52773608	52773608	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0171-01	TCGA-06-0171-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360540.5:c.104C>T	p.Ala35Val	p.A35V	ENST00000360540	NM_052937.3	35	gCg/gTg	0			1			A	A/V	uc003xqx.3	protein_coding	YES	CCDS6148.1			104/1074										0	c.(103-105)GCG>GTG			hmmpanther:PTHR11579,hmmpanther:PTHR11579:SF4,Gene3D:3.40.50.150,Pfam_domain:PF01135	protein-L-isoaspartate (D-aspartate)				ENSP00000353739		7-Mar	8.24E-06		8.68E-05						rs748890802,COSM3413054	7-Mar	.		ENST00000360540	Transcript				cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	ENSG00000168300	g.chr8:52773608G>A	30483			MODERATE		2.905	medium	getma.org/?cm=msa&ty=f&p=PCMD1_HUMAN&rb=9&re=224&var=A35V	getma.org/pdb.php?prot=PCMD1_HUMAN&from=9&to=224&var=A35V	getma.org/?cm=var&var=hg19,8,52773608,G,A&fts=all	A35V	--	--	1																																		PCMTD1_uc003xqw.3_Missense_Mutation_p.A35V|PCMTD1_uc011ldn.1_Intron|PCMTD1_uc010lya.2_Intron|PCMTD1_uc011ldo.1_Missense_Mutation_p.A35V	0,1	1		possibly_damaging(0.832)	p.A35V	NM_052937	NP_443169		deleterious(0)	0,1	PCMD1_HUMAN	PCMTD1	HGNC	Q96MG8	PCMD1_HUMAN					2	445	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	UPI0000047CC0	35					SNV	PCMTD1,missense_variant,p.Ala35Val,ENST00000360540,NM_052937.3;PCMTD1,missense_variant,p.Ala35Val,ENST00000521344,;PCMTD1,missense_variant,p.Ala35Val,ENST00000522514,;PCMTD1,intron_variant,,ENST00000544451,NM_001286783.1,NM_001286782.1;PCMTD1,intron_variant,,ENST00000519559,;PCMTD1,non_coding_transcript_exon_variant,,ENST00000521046,;PCMTD1,upstream_gene_variant,,ENST00000519975,;	uc003xqx.3	c.104C>T	511/4252	2	2			c.104C>T						8	SNP	c.(103-105)GCG>GTG	32	32				0	Broad	protein-L-isoaspartate (D-aspartate)			52773608		0.423	ENSG00000168300	11394	g.chr8:52773608G>A		cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity							10.187091	KEEP	4	9	-1	58	58	4	9	-1	27.688459	58	58	0.111111	1	0	0	0	0	1	0	0	0	--	--		0	A			PCMTD1_uc003xqw.3_Missense_Mutation_p.A35V|PCMTD1_uc011ldn.1_Intron|PCMTD1_uc010lya.2_Intron|PCMTD1_uc011ldo.1_Missense_Mutation_p.A35V	35	GBM-06-0171-TP	p.A35V	G	ACGATCAATCGCTCTGAAGGC	NM_052937	NP_443169	52773608	Q96MG8	PCMD1_HUMAN	0			2	445	-	A	A		Lung NSC(129;0.0795)|all_lung(136;0.144)	Missense_Mutation	35						
PCMTD1	115294	broad.mit.edu	GRCh37	8	52733200	52733200	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-5859-01	TCGA-06-5859-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360540.5:c.785A>T	p.Glu262Val	p.E262V	ENST00000360540	NM_052937.3	262	gAg/gTg	0			1			A	E/V	uc003xqx.3	protein_coding	YES	CCDS6148.1			785/1074										0	c.(784-786)GAG>GTG			hmmpanther:PTHR11579,hmmpanther:PTHR11579:SF4,Superfamily_domains:SSF53335	protein-L-isoaspartate (D-aspartate)				ENSP00000353739		7-Jul									COSM3413053	7-Jul	.		ENST00000360540	Transcript				cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	ENSG00000168300	g.chr8:52733200T>A	30483			MODERATE		1.455	low	getma.org/?cm=msa&ty=f&p=PCMD1_HUMAN&rb=225&re=357&var=E262V	NA	getma.org/?cm=var&var=hg19,8,52733200,T,A&fts=all	E262V	--	--	1																																		PCMTD1_uc011ldm.1_Missense_Mutation_p.E132V|PCMTD1_uc003xqw.3_Missense_Mutation_p.E262V|PCMTD1_uc011ldn.1_Missense_Mutation_p.E74V|PCMTD1_uc010lya.2_Missense_Mutation_p.E186V	1	1		benign(0.072)	p.E262V	NM_052937	NP_443169		deleterious(0.01)	1	PCMD1_HUMAN	PCMTD1	HGNC	Q96MG8	PCMD1_HUMAN					6	1126	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	UPI0000047CC0	262					SNV	PCMTD1,missense_variant,p.Glu262Val,ENST00000360540,NM_052937.3;PCMTD1,missense_variant,p.Glu186Val,ENST00000544451,NM_001286783.1,NM_001286782.1;PCMTD1,missense_variant,p.Glu262Val,ENST00000522514,;AC090186.1,downstream_gene_variant,,ENST00000415643,;PCMTD1,non_coding_transcript_exon_variant,,ENST00000519559,;	uc003xqx.3	c.785A>T	1192/4252	1	1			c.785A>T						8	SNP	c.(784-786)GAG>GTG	57	57				0	Broad	protein-L-isoaspartate (D-aspartate)			52733200		0.408	ENSG00000168300	11394	g.chr8:52733200T>A		cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity							-28.104708	KEEP	2	10	-1	113	137	2	10	-1	13.203014	113	137	0.038889	1	0	0	0	0	1	0	0	0	--	--		0	A			PCMTD1_uc011ldm.1_Missense_Mutation_p.E132V|PCMTD1_uc003xqw.3_Missense_Mutation_p.E262V|PCMTD1_uc011ldn.1_Missense_Mutation_p.E74V|PCMTD1_uc010lya.2_Missense_Mutation_p.E186V	103	GBM-06-5859-TP	p.E262V	T	GGCCTGCATCTCATCATTTAT	NM_052937	NP_443169	52733200	Q96MG8	PCMD1_HUMAN	0			6	1126	-	A	A		Lung NSC(129;0.0795)|all_lung(136;0.144)	Missense_Mutation	262						
PCMTD1	0	broad.mit.edu	GRCh37	8	52733124	52733124	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-12-0821-01	TCGA-12-0821-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360540.5:c.861T>G	p.Thr287=	p.T287=	ENST00000360540	NM_052937.3	287	acT/acG	0			1			C	T	uc003xqx.3	protein_coding	YES	CCDS6148.1			861/1074										0	c.(859-861)ACT>ACG			hmmpanther:PTHR11579,hmmpanther:PTHR11579:SF4,Superfamily_domains:SSF53335	protein-L-isoaspartate (D-aspartate)				ENSP00000353739		7-Jul									COSM3413052	7-Jul	.		ENST00000360540	Transcript				cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	ENSG00000168300	g.chr8:52733124A>C	30483			LOW								--	--	1																																		PCMTD1_uc011ldm.1_Silent_p.T157T|PCMTD1_uc003xqw.3_Silent_p.T287T|PCMTD1_uc011ldn.1_Silent_p.T99T|PCMTD1_uc010lya.2_Silent_p.T211T	1	1			p.T287T	NM_052937	NP_443169			1	PCMD1_HUMAN	PCMTD1	HGNC	Q96MG8	PCMD1_HUMAN					6	1202	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	UPI0000047CC0	287					SNV	PCMTD1,synonymous_variant,p.=,ENST00000360540,NM_052937.3;PCMTD1,synonymous_variant,p.=,ENST00000544451,NM_001286783.1,NM_001286782.1;PCMTD1,synonymous_variant,p.=,ENST00000522514,;AC090186.1,downstream_gene_variant,,ENST00000415643,;PCMTD1,non_coding_transcript_exon_variant,,ENST00000519559,;	uc003xqx.3	c.861T>G	1268/4252	3	3			c.861T>G						8	SNP	c.(859-861)ACT>ACG	59	59				0	Broad	protein-L-isoaspartate (D-aspartate)			52733124		0.303	ENSG00000168300	11394	g.chr8:52733124A>C		cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity							-55.032761	KEEP	27	12	-1	389	189	27	12	-1	26.475664	389	189	0.037037	1	0	0	0	0	0	0	1	0	--	--		0	C			PCMTD1_uc011ldm.1_Silent_p.T157T|PCMTD1_uc003xqw.3_Silent_p.T287T|PCMTD1_uc011ldn.1_Silent_p.T99T|PCMTD1_uc010lya.2_Silent_p.T211T	123	GBM-12-0821-TP	p.T287T	A	CAAATACGTAAGTGTTAATTC	NM_052937	NP_443169	52733124	Q96MG8	PCMD1_HUMAN	0			6	1202	-	C	C		Lung NSC(129;0.0795)|all_lung(136;0.144)	Silent	287						
PCNP	0	broad.mit.edu	GRCh37	3	101304326	101304326	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1991-01	TCGA-32-1991-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265260.3:c.325G>A	p.Val109Ile	p.V109I	ENST00000265260	NM_020357.1	109	Gta/Ata	0			1			A	V/I	uc003dva.2	protein_coding	YES	CCDS2942.1			325/537										0	c.(325-327)GTA>ATA			Pfam_domain:PF15473,hmmpanther:PTHR16523,hmmpanther:PTHR16523:SF6	PEST proteolytic signal containing nuclear				ENSP00000265260		5-Mar									COSM3408078	5-Mar	.		ENST00000265260	Transcript			cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	nucleus	protein binding	ENSG00000081154	g.chr3:101304326G>A	30023			MODERATE		2.11	medium	getma.org/?cm=msa&ty=f&p=PCNP_HUMAN&rb=1&re=176&var=V109I	NA	getma.org/?cm=var&var=hg19,3,101304326,G,A&fts=all	V109I	--	--	1																																		PCNP_uc003dvb.2_RNA|PCNP_uc003dvc.2_RNA|PCNP_uc003dvd.2_Missense_Mutation_p.V109I	1	1		benign(0.018)	p.V109I	NM_020357	NP_065090		tolerated(0.08)	1	PCNP_HUMAN	PCNP	HGNC	Q8WW12	PCNP_HUMAN					3	343	+			UPI0000070241	109					SNV	PCNP,missense_variant,p.Val109Ile,ENST00000265260,NM_020357.1;PCNP,missense_variant,p.Val109Ile,ENST00000296024,;PCNP,5_prime_UTR_variant,,ENST00000469941,;PCNP,non_coding_transcript_exon_variant,,ENST00000470490,;PCNP,intron_variant,,ENST00000486406,;PCNP,3_prime_UTR_variant,,ENST00000460231,;PCNP,3_prime_UTR_variant,,ENST00000498274,;PCNP,upstream_gene_variant,,ENST00000465366,;	uc003dva.2	c.325G>A	446/2342	1	1			c.325G>A						3	SNP	c.(325-327)GTA>ATA	55	55				0	Broad	PEST proteolytic signal containing nuclear			101304326		0.299	ENSG00000081154	11397	g.chr3:101304326G>A	cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	nucleus	protein binding							-48.876621	KEEP	2	2	-1	114	143	2	2	-1	6.628166	114	143	0.014493	1	0	0	0	0	1	0	0	0	--	--		0	A			PCNP_uc003dvb.2_RNA|PCNP_uc003dvc.2_RNA|PCNP_uc003dvd.2_Missense_Mutation_p.V109I	234	GBM-32-1991-TP	p.V109I	G	AACTCTTTCAGTAGCAGCAGC	NM_020357	NP_065090	101304326	Q8WW12	PCNP_HUMAN	0			3	343	+	A	A			Missense_Mutation	109						
PCNX	0	broad.mit.edu	GRCh37	14	71495452	71495452	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0238-01	TCGA-06-0238-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304743.2:c.3502A>C	p.Ile1168Leu	p.I1168L	ENST00000304743	NM_014982.2	1168	Atc/Ctc	0			1			C	I/L	uc001xmo.2	protein_coding	YES	CCDS9806.1			3502/7026									ovary(1)	1	c.(3502-3504)ATC>CTC			hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF2,Transmembrane_helices:TMhelix	pecanex-like 1				ENSP00000304192		16/36									COSM2151078	16/36	.		ENST00000304743	Transcript				integral to membrane		ENSG00000100731	g.chr14:71495452A>C	19740			MODERATE		-0.21	neutral	getma.org/?cm=msa&ty=f&p=PCX1_HUMAN&rb=1001&re=1200&var=I1168L	NA	getma.org/?cm=var&var=hg19,14,71495452,A,C&fts=all	I1168L	--	--	1																																		PCNX_uc010are.1_Missense_Mutation_p.I1057L|PCNX_uc010arf.1_Missense_Mutation_p.I28L	1	1		benign(0.001)	p.I1168L	NM_014982	NP_055797		tolerated(1)	1	PCX1_HUMAN	PCNX	HGNC	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	Q05BT4_HUMAN		16	3948	+			UPI000013E9BB	1168			Helical; (Potential).		SNV	PCNX,missense_variant,p.Ile1168Leu,ENST00000304743,NM_014982.2;PCNX,missense_variant,p.Ile1168Leu,ENST00000238570,;PCNX,missense_variant,p.Ile1057Leu,ENST00000439984,;PCNX,missense_variant,p.Ile227Leu,ENST00000554691,;PCNX,downstream_gene_variant,,ENST00000554707,;RP5-1163L11.2,downstream_gene_variant,,ENST00000555418,;	uc001xmo.2	c.3502A>C	3948/12919	3	3			c.3502A>C						14	SNP	c.(3502-3504)ATC>CTC	13	13			ovary(1)	1	Broad	pecanex-like 1			71495452		0.308	ENSG00000100731	11399	g.chr14:71495452A>C		integral to membrane								164.7324	KEEP	35	24	-1	46	55	35	24	-1	166.25252	46	55	0.380165	1	0	0	0	0	1	0	0	0	--	--		0	C			PCNX_uc010are.1_Missense_Mutation_p.I1057L|PCNX_uc010arf.1_Missense_Mutation_p.I28L	55	GBM-06-0238-TP	p.I1168L	A	TTACAGTTTTATCTGTAGCAT	NM_014982	NP_055797	71495452	Q96RV3	PCX1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	16	3948	+	C	C			Missense_Mutation	1168			Helical; (Potential).			
PCNX	0	broad.mit.edu	GRCh37	14	71444226	71444226	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01	TCGA-06-0939-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304743.2:c.1172G>A	p.Arg391Gln	p.R391Q	ENST00000304743	NM_014982.2	391	cGg/cAg	0			1			A	R/Q	uc001xmo.2	protein_coding	YES	CCDS9806.1			1172/7026									ovary(1)	1	c.(1171-1173)CGG>CAG			hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF2	pecanex-like 1				ENSP00000304192		Jun-36	8.24E-06					1.51E-05			rs761689971,COSM2152419	Jun-36	.		ENST00000304743	Transcript				integral to membrane		ENSG00000100731	g.chr14:71444226G>A	19740			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=PCX1_HUMAN&rb=201&re=400&var=R391Q	NA	getma.org/?cm=var&var=hg19,14,71444226,G,A&fts=all	R391Q	--	--	1																																		PCNX_uc001xmn.3_Missense_Mutation_p.R391Q|PCNX_uc010are.1_Missense_Mutation_p.R391Q	0,1	1		probably_damaging(0.997)	p.R391Q	NM_014982	NP_055797		deleterious(0.01)	0,1	PCX1_HUMAN	PCNX	HGNC	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	Q05BT4_HUMAN		6	1618	+			UPI000013E9BB	391					SNV	PCNX,missense_variant,p.Arg391Gln,ENST00000304743,NM_014982.2;PCNX,missense_variant,p.Arg391Gln,ENST00000238570,;PCNX,missense_variant,p.Arg391Gln,ENST00000439984,;PCNX,downstream_gene_variant,,ENST00000553272,;PCNX,downstream_gene_variant,,ENST00000553428,;PCNX,non_coding_transcript_exon_variant,,ENST00000554879,;PCNX,upstream_gene_variant,,ENST00000556846,;	uc001xmo.2	c.1172G>A	1618/12919	1	1			c.1172G>A						14	SNP	c.(1171-1173)CGG>CAG	56	56			ovary(1)	1	Broad	pecanex-like 1			71444226		0.498	ENSG00000100731	11399	g.chr14:71444226G>A		integral to membrane								163.349678	KEEP	23	42	-1	66	69	23	42	-1	166.99236	66	69	0.341463	1	0	0	0	0	1	0	0	0	--	--		0	A			PCNX_uc001xmn.3_Missense_Mutation_p.R391Q|PCNX_uc010are.1_Missense_Mutation_p.R391Q	78	GBM-06-0939-TP	p.R391Q	G	GGAACGGACCGGGACACTAAC	NM_014982	NP_055797	71444226	Q96RV3	PCX1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	6	1618	+	A	A			Missense_Mutation	391						
PCNX	0	broad.mit.edu	GRCh37	14	71540387	71540387	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-26-5134-01	TCGA-26-5134-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304743.2:c.4978C>T	p.Arg1660Ter	p.R1660*	ENST00000304743	NM_014982.2	1660	Cga/Tga	0			1			T	R/*	uc001xmo.2	protein_coding	YES	CCDS9806.1			4978/7026									ovary(1)	1	c.(4978-4980)CGA>TGA			hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF2	pecanex-like 1				ENSP00000304192		27/36									COSM195267	27/36	.		ENST00000304743	Transcript				integral to membrane		ENSG00000100731	g.chr14:71540387C>T	19740			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,14,71540387,C,T&fts=all	R1660*	--	--	1																																		PCNX_uc010are.1_Nonsense_Mutation_p.R1549*|PCNX_uc010arf.1_Nonsense_Mutation_p.R448*	1	1			p.R1660*	NM_014982	NP_055797			1	PCX1_HUMAN	PCNX	HGNC	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	Q05BT4_HUMAN		27	5424	+			UPI000013E9BB	1660					SNV	PCNX,stop_gained,p.Arg1660Ter,ENST00000304743,NM_014982.2;PCNX,stop_gained,p.Arg1588Ter,ENST00000238570,;PCNX,stop_gained,p.Arg1549Ter,ENST00000439984,;PCNX,stop_gained,p.Arg647Ter,ENST00000554691,;PCNX,stop_gained,p.Arg170Ter,ENST00000556849,;PCNX,upstream_gene_variant,,ENST00000557428,;	uc001xmo.2	c.4978C>T	5424/12919	5	1			c.4978C>T						14	SNP	c.(4978-4980)CGA>TGA	3	3			ovary(1)	1	Broad	pecanex-like 1			71540387		0.438	ENSG00000100731	11399	g.chr14:71540387C>T		integral to membrane								338.216259	KEEP	59	59	-1	18	11	59	59	-1	348.307258	18	11	0.790698	1	0	0	0	0	0	1	0	0	--	--		0	T			PCNX_uc010are.1_Nonsense_Mutation_p.R1549*|PCNX_uc010arf.1_Nonsense_Mutation_p.R448*	183	GBM-26-5134-TP	p.R1660*	C	ATTTAGCCAGCGATGGCTAGC	NM_014982	NP_055797	71540387	Q96RV3	PCX1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	27	5424	+	T	T			Nonsense_Mutation	1660						
PCNXL2	0	broad.mit.edu	GRCh37	1	233394108	233394108	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0195-01	TCGA-06-0195-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258229.9:c.1500A>G	p.Thr500=	p.T500=	ENST00000258229	NM_014801.3	500	acA/acG	0			1			C	T	uc001hvl.2	protein_coding	YES	CCDS44335.1			1500/6414									central_nervous_system(1)|pancreas(1)	2	c.(1498-1500)ACA>ACG			hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF5	pecanex-like 2				ENSP00000258229		May-34									COSM3747832	May-34	.		ENST00000258229	Transcript				integral to membrane		ENSG00000135749	g.chr1:233394108T>C	8736			LOW								--	--	1																																		PCNXL2_uc009xfu.2_RNA|PCNXL2_uc009xfv.1_RNA	1	1			p.T500T	NM_014801	NP_055616			1	PCX2_HUMAN	PCNXL2	HGNC	A6NKB5	PCX2_HUMAN			B3KNZ5_HUMAN		5	1735	-		all_cancers(173;0.0347)|Prostate(94;0.137)	UPI0000F58F23	500					SNV	PCNXL2,synonymous_variant,p.=,ENST00000258229,NM_014801.3;PCNXL2,5_prime_UTR_variant,,ENST00000430153,;PCNXL2,upstream_gene_variant,,ENST00000475463,;	uc001hvl.2	c.1500A>G	1735/7518	3	3			c.1500A>G						1	SNP	c.(1498-1500)ACA>ACG	4	4			central_nervous_system(1)|pancreas(1)	2	Broad	pecanex-like 2			233394108		0.562	ENSG00000135749	11400	g.chr1:233394108T>C		integral to membrane								160.91502	KEEP	29	31	-1	51	49	29	31	-1	162.430381	51	49	0.388489	1	0	0	0	0	0	0	1	0	--	--		0	C			PCNXL2_uc009xfu.2_RNA|PCNXL2_uc009xfv.1_RNA	45	GBM-06-0195-TP	p.T500T	T	ACTCGGAGCCTGTATCAGGTG	NM_014801	NP_055616	233394108	A6NKB5	PCX2_HUMAN	0			5	1735	-	C	C		all_cancers(173;0.0347)|Prostate(94;0.137)	Silent	500						
PCNXL2			GRCh37	1	233394169	233394169	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000258229.9:c.1439A>G	p.Lys480Arg	p.K480R	ENST00000258229	NM_014801.3	480	aAg/aGg	0																																																																																																																																																																																																																																												
PCNXL2			GRCh37	1	233270873	233270873	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000258229.9:c.3723G>A	p.Pro1241=	p.P1241=	ENST00000258229	NM_014801.3	1241	ccG/ccA	0																																																																																																																																																																																																																																												
PCNXL3	0	broad.mit.edu	GRCh37	11	65402835	65402835	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355703.3:c.5100G>A	p.Ala1700=	p.A1700=	ENST00000355703	NM_032223.2	1700	gcG/gcA	0	A:0.0024	A:0.0008	1	A:0		A	A	uc001oey.2	protein_coding	YES	CCDS44650.1			5100/6105										0	c.(5098-5100)GCG>GCA			Pfam_domain:PF05041,hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF4	pecanex-like 3		A:0	A:0	ENSP00000347931	A:0	31/35	0.000182	0.00294						7.02E-05	rs375263170,COSM2151767	31/35	common_variant		ENST00000355703	Transcript		A:0.0002		integral to membrane		ENSG00000197136	g.chr11:65402835G>A	18760			LOW								--	--	1																																		PCNXL3_uc001oez.2_Silent_p.A587A	0,1	1			p.A1700A	NM_032223	NP_115599	A:0		0,1	PCX3_HUMAN	PCNXL3	HGNC	Q9H6A9	PCX3_HUMAN					31	5100	+			UPI0000405B22	1700					SNV	PCNXL3,synonymous_variant,p.=,ENST00000355703,NM_032223.2;SIPA1,upstream_gene_variant,,ENST00000394224,NM_153253.29;SIPA1,upstream_gene_variant,,ENST00000534313,NM_006747.3;SIPA1,upstream_gene_variant,,ENST00000527525,;SIPA1,upstream_gene_variant,,ENST00000533361,;SIPA1,upstream_gene_variant,,ENST00000526137,;MIR4690,upstream_gene_variant,,ENST00000578459,;PCNXL3,downstream_gene_variant,,ENST00000531280,;PCNXL3,non_coding_transcript_exon_variant,,ENST00000439247,;	uc001oey.2	c.5100G>A	5639/7105	2	2			c.5100G>A						11	SNP	c.(5098-5100)GCG>GCA	24	24				0	Broad	pecanex-like 3			65402835		0.632	ENSG00000197136	11401	g.chr11:65402835G>A		integral to membrane								62.898863	KEEP	5	16	-1	14	11	5	16	-1	62.919455	14	11	0.47619	1	0	0	0	0	0	0	1	0	--	--		0	A			PCNXL3_uc001oez.2_Silent_p.A587A	68	GBM-06-0747-TP	p.A1700A	G	CCCTGCTGGCGCTGCGCCATG	NM_032223	NP_115599	65402835	Q9H6A9	PCX3_HUMAN	0			31	5100	+	A	A			Silent	1700						
PCNXL3	0	broad.mit.edu	GRCh37	11	65402835	65402835	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1977-01	TCGA-32-1977-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355703.3:c.5100G>A	p.Ala1700=	p.A1700=	ENST00000355703	NM_032223.2	1700	gcG/gcA	0	A:0.0024	A:0.0008	1	A:0		A	A	uc001oey.2	protein_coding	YES	CCDS44650.1			5100/6105										0	c.(5098-5100)GCG>GCA			Pfam_domain:PF05041,hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF4	pecanex-like 3		A:0	A:0	ENSP00000347931	A:0	31/35	0.000182	0.00294						7.02E-05	rs375263170,COSM2151767	31/35	common_variant		ENST00000355703	Transcript		A:0.0002		integral to membrane		ENSG00000197136	g.chr11:65402835G>A	18760			LOW								--	--	1																																		PCNXL3_uc001oez.2_Silent_p.A587A	0,1	1			p.A1700A	NM_032223	NP_115599	A:0		0,1	PCX3_HUMAN	PCNXL3	HGNC	Q9H6A9	PCX3_HUMAN					31	5100	+			UPI0000405B22	1700					SNV	PCNXL3,synonymous_variant,p.=,ENST00000355703,NM_032223.2;SIPA1,upstream_gene_variant,,ENST00000394224,NM_153253.29;SIPA1,upstream_gene_variant,,ENST00000534313,NM_006747.3;SIPA1,upstream_gene_variant,,ENST00000527525,;SIPA1,upstream_gene_variant,,ENST00000533361,;SIPA1,upstream_gene_variant,,ENST00000526137,;MIR4690,upstream_gene_variant,,ENST00000578459,;PCNXL3,downstream_gene_variant,,ENST00000531280,;PCNXL3,non_coding_transcript_exon_variant,,ENST00000439247,;	uc001oey.2	c.5100G>A	5639/7105	2	2			c.5100G>A						11	SNP	c.(5098-5100)GCG>GCA	24	24				0	Broad	pecanex-like 3			65402835		0.632	ENSG00000197136	11401	g.chr11:65402835G>A		integral to membrane								12.736225	KEEP	3	4	-1	12	13	3	4	-1	15.043698	12	13	0.206897	1	0	0	0	0	0	0	1	0	--	--		0	A			PCNXL3_uc001oez.2_Silent_p.A587A	229	GBM-32-1977-TP	p.A1700A	G	CCCTGCTGGCGCTGCGCCATG	NM_032223	NP_115599	65402835	Q9H6A9	PCX3_HUMAN	0			31	5100	+	A	A			Silent	1700						
PCOLCE	0	broad.mit.edu	GRCh37	7	100201641	100201641	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-16-1045-01	TCGA-16-1045-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000223061.5:c.264C>T	p.Pro88=	p.P88=	ENST00000223061	NM_002593.3	88	ccC/ccT	0			1			T	P	uc003uvo.2	protein_coding	YES	CCDS5700.1			264/1350										0	c.(262-264)CCC>CCT			Superfamily_domains:SSF49854,SMART_domains:SM00042,Pfam_domain:PF00431,Gene3D:2.60.120.290,hmmpanther:PTHR10127:SF567,hmmpanther:PTHR10127,PROSITE_profiles:PS01180	procollagen C-endopeptidase enhancer				ENSP00000223061		9-Mar									COSM3411360	9-Mar	.		ENST00000223061	Transcript			multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	ENSG00000106333	g.chr7:100201641C>T	8738			LOW								--	--	1																																		uc011kjy.1_RNA|PCOLCE_uc011kkb.1_Silent_p.P88P|PCOLCE_uc010lhb.1_Intron|PCOLCE_uc003uvp.1_5'Flank	1	1			p.P88P	NM_002593	NP_002584			1	PCOC1_HUMAN	PCOLCE	HGNC	Q15113	PCOC1_HUMAN					3	462	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		UPI0000131428	88			CUB 1.		SNV	PCOLCE,synonymous_variant,p.=,ENST00000223061,NM_002593.3;FBXO24,downstream_gene_variant,,ENST00000241071,NM_033506.2;FBXO24,downstream_gene_variant,,ENST00000360609,;FBXO24,downstream_gene_variant,,ENST00000427939,NM_012172.4;FBXO24,downstream_gene_variant,,ENST00000468962,NM_001163499.1;PCOLCE-AS1,non_coding_transcript_exon_variant,,ENST00000442166,;PCOLCE-AS1,non_coding_transcript_exon_variant,,ENST00000446022,;PCOLCE-AS1,upstream_gene_variant,,ENST00000544873,;PCOLCE,non_coding_transcript_exon_variant,,ENST00000496269,;PCOLCE,upstream_gene_variant,,ENST00000486440,;PCOLCE,non_coding_transcript_exon_variant,,ENST00000462260,;PCOLCE,non_coding_transcript_exon_variant,,ENST00000482863,;FBXO24,downstream_gene_variant,,ENST00000488079,;PCOLCE,upstream_gene_variant,,ENST00000472348,;PCOLCE,upstream_gene_variant,,ENST00000487172,;PCOLCE,upstream_gene_variant,,ENST00000468214,;PCOLCE,upstream_gene_variant,,ENST00000460002,;PCOLCE,upstream_gene_variant,,ENST00000490909,;	uc003uvo.2	c.264C>T	544/1702	2	2			c.264C>T						7	SNP	c.(262-264)CCC>CCT	44	44				0	Broad	procollagen C-endopeptidase enhancer			100201641		0.672	ENSG00000106333	11402	g.chr7:100201641C>T	multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity							-26.688463	KEEP	5	0	-1	99	91	5	0	-1	6.97835	99	91	0.028986	1	0	0	0	0	0	0	1	0	--	--		0	T			uc011kjy.1_RNA|PCOLCE_uc011kkb.1_Silent_p.P88P|PCOLCE_uc010lhb.1_Intron|PCOLCE_uc003uvp.1_5'Flank	157	GBM-16-1045-TP	p.P88P	C	AGCTGCACCCCGCCTGCCGCT	NM_002593	NP_002584	100201641	Q15113	PCOC1_HUMAN	0			3	462	+	T	T	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		Silent	88			CUB 1.			
PCOLCE2	0	broad.mit.edu	GRCh37	3	142557612	142557612	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01	TCGA-19-2623-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295992.3:c.710C>T	p.Ala237Val	p.A237V	ENST00000295992	NM_013363.3	237	gCg/gTg	0		A:0	1	A:0		A	A/V	uc003evd.2	protein_coding	YES	CCDS3127.1			710/1248									ovary(2)|skin(1)	3	c.(709-711)GCG>GTG			PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF40,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854	procollagen C-endopeptidase enhancer 2		A:0		ENSP00000295992	A:0	9-May	6.59E-05	0.000192				4.50E-05		0.000182	rs532109090,COSM3408301	9-May	.		ENST00000295992	Transcript		A:0.0002		extracellular region	collagen binding|heparin binding|peptidase activator activity	ENSG00000163710	g.chr3:142557612G>A	8739			MODERATE		1.68	low	getma.org/?cm=msa&ty=f&p=PCOC2_HUMAN&rb=154&re=265&var=A237V	getma.org/pdb.php?prot=PCOC2_HUMAN&from=154&to=265&var=A237V	getma.org/?cm=var&var=hg19,3,142557612,G,A&fts=all	A237V	--	--	1																																			0,1	1		benign(0.052)	p.A237V	NM_013363	NP_037495	A:0.001	tolerated(0.13)	0,1	PCOC2_HUMAN	PCOLCE2	HGNC	Q9UKZ9	PCOC2_HUMAN			H7C5D5_HUMAN		5	906	-			UPI0000073F93	237			CUB 2.		SNV	PCOLCE2,missense_variant,p.Ala237Val,ENST00000295992,NM_013363.3;PCOLCE2,missense_variant,p.Ala237Val,ENST00000485766,;PCOLCE2,splice_region_variant,,ENST00000480473,;PCOLCE2,splice_region_variant,,ENST00000483986,;	uc003evd.2	c.710C>T	1017/2021	1	1			c.710C>T						3	SNP	c.(709-711)GCG>GTG	59	59			ovary(2)|skin(1)	3	Broad	procollagen C-endopeptidase enhancer 2			142557612		0.378	ENSG00000163710	11403	g.chr3:142557612G>A		extracellular region	collagen binding|heparin binding|peptidase activator activity							205.958262	KEEP	38	34	-1	62	50	38	34	-1	207.861817	62	50	0.388571	1	0	0	0	0	1	0	0	0	--	--		0	A				163	GBM-19-2623-TP	p.A237V	G	TGCTACTTACGCAGGTGGACT	NM_013363	NP_037495	142557612	Q9UKZ9	PCOC2_HUMAN	0			5	906	-	A	A			Missense_Mutation	237			CUB 2.			
PCOLCE2	26577		GRCh37	3	142567280	142567280	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000295992.3:c.227G>A	p.Arg76Gln	p.R76Q	ENST00000295992	NM_013363.3	76	cGa/cAa	0																																																																																																																																																																																																																																												
PCP4L1	0	broad.mit.edu	GRCh37	1	161253488	161253488	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-26-1439-01	TCGA-26-1439-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504449.1:c.40C>T	p.Gln14Ter	p.Q14*	ENST00000504449	NM_001102566.1	14	Cag/Tag	0			1			T	Q/*	uc001gad.2	protein_coding	YES	CCDS53412.1			40/207										0	c.(40-42)CAG>TAG			hmmpanther:PTHR15359,hmmpanther:PTHR15359:SF5	Purkinje cell protein 4 like 1				ENSP00000426296		3-Feb									COSM3399919	3-Feb	.		ENST00000504449	Transcript						ENSG00000248485	g.chr1:161253488C>T	20448			HIGH								--	--	1																																			1	1			p.Q14*	NM_001102566	NP_001096036			1	PC4L1_HUMAN	PCP4L1	HGNC	A6NKN8	PC4L1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)				2	288	+	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		UPI000006E52C	14					SNV	PCP4L1,stop_gained,p.Gln14Ter,ENST00000504449,NM_001102566.1;	uc001gad.2	c.40C>T	288/1424	5	2			c.40C>T						1	SNP	c.(40-42)CAG>TAG	46	46				0	Broad	Purkinje cell protein 4 like 1			161253488		0.428	ENSG00000248485	11407	g.chr1:161253488C>T						28			28	21.215416	KEEP	6	1	-1	14	8	6	1	-1	22.001472	14	8	0.304348	1	0	0	0	0	0	1	0	0	--	--		0	T				179	GBM-26-1439-TP	p.Q14*	C	AGCAACCAACCAGGCAGCTGG	NM_001102566	NP_001096036	161253488	A6NKN8	PC4L1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.00376)		2	288	+	T	T	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		Nonsense_Mutation	14						
PCSK2	5126	broad.mit.edu	GRCh37	20	17434509	17434509	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2558-01	TCGA-06-2558-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262545.2:c.1008C>T	p.Asn336=	p.N336=	ENST00000262545	NM_002594.3	336	aaC/aaT	0			1			T	N	uc002wpm.2	protein_coding	YES	CCDS13125.1			1008/1917									ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7	c.(1006-1008)AAC>AAT			hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF11,Pfam_domain:PF00082,Gene3D:3.40.50.200,Superfamily_domains:SSF52743	proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)			ENSP00000262545		12-Sep	8.24E-06							6.06E-05	rs762559214,COSM1632195	12-Sep	.		ENST00000262545	Transcript			enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	ENSG00000125851	g.chr20:17434509C>T	8744			LOW								--	--	1																																		PCSK2_uc002wpl.2_Silent_p.N317N|PCSK2_uc010zrm.1_Silent_p.N301N	0,1	1			p.N336N	NM_002594	NP_002585			0,1	NEC2_HUMAN	PCSK2	HGNC	P16519	NEC2_HUMAN			Q9UM69_HUMAN		9	1328	+			UPI0000000C6E	336			Catalytic.		SNV	PCSK2,synonymous_variant,p.=,ENST00000262545,NM_002594.3;PCSK2,synonymous_variant,p.=,ENST00000377899,NM_001201528.1;PCSK2,synonymous_variant,p.=,ENST00000536609,NM_001201529.1;	uc002wpm.2	c.1008C>T	1323/4740	2	2			c.1008C>T						20	SNP	c.(1006-1008)AAC>AAT	44	44			ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7	Broad	proprotein convertase subtilisin/kexin type 2		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	17434509		0.617	ENSG00000125851	11409	g.chr20:17434509C>T	enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity							108.724962	KEEP	19	31	-1	46	48	19	31	-1	110.592154	46	48	0.358491	1	0	0	0	0	0	0	1	0	--	--		0	T			PCSK2_uc002wpl.2_Silent_p.N317N|PCSK2_uc010zrm.1_Silent_p.N301N	82	GBM-06-2558-TP	p.N336N	C	CAGCCATCAACGACGGCAGGA	NM_002594	NP_002585	17434509	P16519	NEC2_HUMAN	0			9	1328	+	T	T			Silent	336			Catalytic.			
PCSK2	5126	broad.mit.edu	GRCh37	20	17445987	17445987	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs138900084		TCGA-06-5415-01	TCGA-06-5415-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262545.2:c.1219C>T	p.Arg407Trp	p.R407W	ENST00000262545	NM_002594.3	407	Cgg/Tgg	0			1			T	R/W	uc002wpm.2	protein_coding	YES	CCDS13125.1			1219/1917									ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7	c.(1219-1221)CGG>TGG			hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF11,Pfam_domain:PF00082,Gene3D:3.40.50.200,Superfamily_domains:SSF52743	proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)			ENSP00000262545		12-Nov									COSM2153249	12-Nov	.		ENST00000262545	Transcript			enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	ENSG00000125851	g.chr20:17445987C>T	8744			MODERATE		3.84	high	getma.org/?cm=msa&ty=f&p=NEC2_HUMAN&rb=162&re=454&var=R407W	getma.org/pdb.php?prot=NEC2_HUMAN&from=162&to=454&var=R407W	getma.org/?cm=var&var=hg19,20,17445987,C,T&fts=all	R407W	--	--	1																																		PCSK2_uc002wpl.2_Missense_Mutation_p.R388W|PCSK2_uc010zrm.1_Missense_Mutation_p.R372W|PCSK2_uc002wpn.2_Missense_Mutation_p.R61W	1	1		probably_damaging(1)	p.R407W	NM_002594	NP_002585		deleterious(0)	1	NEC2_HUMAN	PCSK2	HGNC	P16519	NEC2_HUMAN			Q9UM69_HUMAN		11	1539	+			UPI0000000C6E	407			Catalytic.		SNV	PCSK2,missense_variant,p.Arg407Trp,ENST00000262545,NM_002594.3;PCSK2,missense_variant,p.Arg388Trp,ENST00000377899,NM_001201528.1;PCSK2,missense_variant,p.Arg372Trp,ENST00000536609,NM_001201529.1;PCSK2,non_coding_transcript_exon_variant,,ENST00000459871,;	uc002wpm.2	c.1219C>T	1534/4740	1	1			c.1219C>T						20	SNP	c.(1219-1221)CGG>TGG	5	5			ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7	Broad	proprotein convertase subtilisin/kexin type 2		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	17445987		0.552	ENSG00000125851	11409	g.chr20:17445987C>T	enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity							37.868258	KEEP	8	11	-1	26	27	8	11	-1	41.159091	26	27	0.258065	1	0	0	0	0	1	0	0	0	--	--		0	T			PCSK2_uc002wpl.2_Missense_Mutation_p.R388W|PCSK2_uc010zrm.1_Missense_Mutation_p.R372W|PCSK2_uc002wpn.2_Missense_Mutation_p.R61W	98	GBM-06-5415-TP	p.R407W	C	TCTGACCTGGCGGGACATGCA	NM_002594	NP_002585	17445987	P16519	NEC2_HUMAN	0			11	1539	+	T	T			Missense_Mutation	407			Catalytic.			
PCSK2	0	broad.mit.edu	GRCh37	20	17389925	17389925	+	synonymous_variant	Silent	SNP	C	C	T	rs139215444	byFrequency	TCGA-12-0615-01	TCGA-12-0615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262545.2:c.561C>T	p.Tyr187=	p.Y187=	ENST00000262545	NM_002594.3	187	taC/taT	0	T:0.0014	T:0	1	T:0.0014		T	Y	uc002wpm.2	protein_coding	YES	CCDS13125.1			561/1917									ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7	c.(559-561)TAC>TAT			hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF11,Pfam_domain:PF00082,Gene3D:3.40.50.200,Superfamily_domains:SSF52743	proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	T:0	T:0	ENSP00000262545	T:0	12-Jun	8.24E-05	0.000961							rs139215444,COSM2153539	12-Jun	common_variant		ENST00000262545	Transcript		T:0.0002	enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	ENSG00000125851	g.chr20:17389925C>T	8744			LOW								--	--	1																																		PCSK2_uc002wpl.2_Silent_p.Y168Y|PCSK2_uc010zrm.1_Silent_p.Y152Y	0,1	1			p.Y187Y	NM_002594	NP_002585	T:0		0,1	NEC2_HUMAN	PCSK2	HGNC	P16519	NEC2_HUMAN			Q9UM69_HUMAN		6	881	+			UPI0000000C6E	187			Catalytic.		SNV	PCSK2,synonymous_variant,p.=,ENST00000262545,NM_002594.3;PCSK2,synonymous_variant,p.=,ENST00000377899,NM_001201528.1;PCSK2,synonymous_variant,p.=,ENST00000536609,NM_001201529.1;PCSK2,non_coding_transcript_exon_variant,,ENST00000470007,;	uc002wpm.2	c.561C>T	876/4740	1	1			c.561C>T						20	SNP	c.(559-561)TAC>TAT	10	10			ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7	Broad	proprotein convertase subtilisin/kexin type 2		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	17389925		0.483	ENSG00000125851	11409	g.chr20:17389925C>T	enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity							340.52956	KEEP	67	61	-1	119	100	67	61	-1	344.058322	119	100	0.383051	1	0	0	0	0	0	0	1	0	--	--		0	T			PCSK2_uc002wpl.2_Silent_p.Y168Y|PCSK2_uc010zrm.1_Silent_p.Y152Y	117	GBM-12-0615-TP	p.Y187Y	C	AAGCAAGTTACGACTTCAGCA	NM_002594	NP_002585	17389925	P16519	NEC2_HUMAN	0			6	881	+	T	T			Silent	187			Catalytic.			
PCSK2	0	broad.mit.edu	GRCh37	20	17434533	17434533	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262545.2:c.1032C>T	p.Asp344=	p.D344=	ENST00000262545	NM_002594.3	344	gaC/gaT	0			1			T	D	uc002wpm.2	protein_coding	YES	CCDS13125.1			1032/1917									ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7	c.(1030-1032)GAC>GAT			hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF11,Pfam_domain:PF00082,Gene3D:3.40.50.200,Superfamily_domains:SSF52743	proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)			ENSP00000262545		12-Sep									COSM477860	12-Sep	.		ENST00000262545	Transcript			enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	ENSG00000125851	g.chr20:17434533C>T	8744			LOW								--	--	1																																		PCSK2_uc002wpl.2_Silent_p.D325D|PCSK2_uc010zrm.1_Silent_p.D309D	1	1			p.D344D	NM_002594	NP_002585			1	NEC2_HUMAN	PCSK2	HGNC	P16519	NEC2_HUMAN			Q9UM69_HUMAN		9	1352	+			UPI0000000C6E	344			Catalytic.		SNV	PCSK2,synonymous_variant,p.=,ENST00000262545,NM_002594.3;PCSK2,synonymous_variant,p.=,ENST00000377899,NM_001201528.1;PCSK2,synonymous_variant,p.=,ENST00000536609,NM_001201529.1;	uc002wpm.2	c.1032C>T	1347/4740	2	2			c.1032C>T						20	SNP	c.(1030-1032)GAC>GAT	33	33			ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7	Broad	proprotein convertase subtilisin/kexin type 2		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	17434533		0.597	ENSG00000125851	11409	g.chr20:17434533C>T	enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity							177.879336	KEEP	23	46	-1	47	48	23	46	-1	178.501363	47	48	0.428571	1	0	0	0	0	0	0	1	0	--	--		0	T			PCSK2_uc002wpl.2_Silent_p.D325D|PCSK2_uc010zrm.1_Silent_p.D309D	218	GBM-28-5209-TP	p.D344D	C	CCCTGTACGACGAGAGCTGCT	NM_002594	NP_002585	17434533	P16519	NEC2_HUMAN	0			9	1352	+	T	T			Silent	344			Catalytic.			
PCSK2	5126		GRCh37	20	17446060	17446060	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000262545.2:c.1292G>A	p.Arg431His	p.R431H	ENST00000262545	NM_002594.3	431	cGc/cAc	0																																																																																																																																																																																																																																												
PCSK9	0	broad.mit.edu	GRCh37	1	55523733	55523733	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01	TCGA-41-4097-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302118.5:c.1205C>T	p.Ala402Val	p.A402V	ENST00000302118	NM_174936.3	402	gCc/gTc	0			1			T	A/V	uc001cyf.1	protein_coding	YES	CCDS603.1			1205/2079									ovary(2)|central_nervous_system(1)|skin(1)	4	c.(1204-1206)GCC>GTC			hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF333,Pfam_domain:PF00082,Gene3D:3.40.50.200,Superfamily_domains:SSF52743	proprotein convertase subtilisin/kexin type 9				ENSP00000303208		12-Aug									COSM3400900	12-Aug	.		ENST00000302118	Transcript	1		cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	ENSG00000169174	g.chr1:55523733C>T	20001			MODERATE		0.58	neutral	getma.org/?cm=msa&ty=f&p=PCSK9_HUMAN&rb=181&re=443&var=A402V	getma.org/pdb.php?prot=PCSK9_HUMAN&from=181&to=443&var=A402V	getma.org/?cm=var&var=hg19,1,55523733,C,T&fts=all	A402V	--	--	1																																		PCSK9_uc010oom.1_RNA	1	1		benign(0.196)	p.A402V	NM_174936	NP_777596		tolerated(0.08)	1	PCSK9_HUMAN	PCSK9	HGNC	Q8NBP7	PCSK9_HUMAN					8	1496	+			UPI00001615E1	402			Peptidase S8.		SNV	PCSK9,missense_variant,p.Ala402Val,ENST00000302118,NM_174936.3;PCSK9,missense_variant,p.Ala202Val,ENST00000543384,;PCSK9,non_coding_transcript_exon_variant,,ENST00000490692,;	uc001cyf.1	c.1205C>T	1495/3637	1	1			c.1205C>T						1	SNP	c.(1204-1206)GCC>GTC	3	3			ovary(2)|central_nervous_system(1)|skin(1)	4	Broad	proprotein convertase subtilisin/kexin type 9			55523733		0.602	ENSG00000169174	11414	g.chr1:55523733C>T	cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	Pancreas(137;1454 1827 5886 22361 42375)			Pancreas(137;1454 1827 5886 22361 42375)			-12.487234	KEEP	2	2	-1	65	62	2	2	-1	9.473994	65	62	0.041237	1	0	0	0	0	1	0	0	0	--	--		0	T			PCSK9_uc010oom.1_RNA	257	GBM-41-4097-TP	p.A402V	C	ATGCTGTCTGCCGAGCCGGAG	NM_174936	NP_777596	55523733	Q8NBP7	PCSK9_HUMAN	0			8	1496	+	T	T			Missense_Mutation	402			Peptidase S8.			
PCYT1A	0	broad.mit.edu	GRCh37	3	195965646	195965646	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-3653-01	TCGA-12-3653-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000292823.2:c.1017C>T	p.Ser339=	p.S339=	ENST00000292823	NM_005017.2	339	tcC/tcT	0	A:0.0002	A:0	1	A:0		A	S	uc003fwg.2	protein_coding	YES	CCDS3315.1			1017/1104										0	c.(1015-1017)TCC>TCT			hmmpanther:PTHR10739,hmmpanther:PTHR10739:SF19,Low_complexity_(Seg):seg	choline phosphate cytidylyltransferase 1 alpha	Choline(DB00122)	A:0	A:0	ENSP00000292823	A:0	10-Oct	0.000124		0.000173			4.54E-05		0.000673	rs372804569,COSM2947250	10-Oct	common_variant		ENST00000292823	Transcript	1	A:0.0002		cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity	ENSG00000161217	g.chr3:195965646G>A	8754			LOW								--	--	1																																		uc003fwf.1_5'Flank|PCYT1A_uc003fwh.2_Silent_p.S339S	0,1	1			p.S339S	NM_005017	NP_005008	A:0.001		0,1	PCY1A_HUMAN	PCYT1A	HGNC	P49585	PCY1A_HUMAN	Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	C9JVS0_HUMAN,C9JPY0_HUMAN,C9J050_HUMAN		10	1190	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		UPI000000DB72	339			3 X repeats.		SNV	PCYT1A,synonymous_variant,p.=,ENST00000292823,NM_005017.2;PCYT1A,synonymous_variant,p.=,ENST00000431016,;PCYT1A,synonymous_variant,p.=,ENST00000419333,;SLC51A,intron_variant,,ENST00000415111,;PCYT1A,intron_variant,,ENST00000441879,;PCYT1A,downstream_gene_variant,,ENST00000411591,;PCYT1A,downstream_gene_variant,,ENST00000430755,;PCYT1A,downstream_gene_variant,,ENST00000433733,;SLC51A,intron_variant,,ENST00000496737,;SLC51A,downstream_gene_variant,,ENST00000479732,;PCYT1A,downstream_gene_variant,,ENST00000473978,;PCYT1A,downstream_gene_variant,,ENST00000460677,;PCYT1A,downstream_gene_variant,,ENST00000444822,;PCYT1A,downstream_gene_variant,,ENST00000460827,;PCYT1A,downstream_gene_variant,,ENST00000488235,;	uc003fwg.2	c.1017C>T	1190/5597	2	2			c.1017C>T						3	SNP	c.(1015-1017)TCC>TCT	32	32				0	Broad	choline phosphate cytidylyltransferase 1 alpha		Choline(DB00122)	195965646		0.607	ENSG00000161217	11418	g.chr3:195965646G>A		cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity							-15.051931	KEEP	2	1	-1	47	44	2	1	-1	6.322988	47	44	0.033333	1	0	0	0	0	0	0	1	0	--	--		0	A			uc003fwf.1_5'Flank|PCYT1A_uc003fwh.2_Silent_p.S339S	128	GBM-12-3653-TP	p.S339S	G	AAGTCTTGCCGGAGAAGGGCC	NM_005017	NP_005008	195965646	P49585	PCY1A_HUMAN	0	Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	10	1190	-	A	A	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Silent	339			3 X repeats.			
PCYT1A	0	broad.mit.edu	GRCh37	3	195969479	195969479	+	stop_gained	Nonsense_Mutation	SNP	A	A	C			TCGA-14-0871-01	TCGA-14-0871-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000292823.2:c.519T>G	p.Tyr173Ter	p.Y173*	ENST00000292823	NM_005017.2	173	taT/taG	0			1			C	Y/*	uc003fwg.2	protein_coding	YES	CCDS3315.1			519/1104										0	c.(517-519)TAT>TAG			Gene3D:3.40.50.620,Pfam_domain:PF01467,hmmpanther:PTHR10739,hmmpanther:PTHR10739:SF19,Superfamily_domains:SSF52374	choline phosphate cytidylyltransferase 1 alpha	Choline(DB00122)			ENSP00000292823		10-Jul									COSM3408548	10-Jul	.		ENST00000292823	Transcript	1			cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity	ENSG00000161217	g.chr3:195969479A>C	8754			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,3,195969479,A,C&fts=all	Y173*	--	--	1																																		PCYT1A_uc003fwh.2_Nonsense_Mutation_p.Y173*	1	1			p.Y173*	NM_005017	NP_005008			1	PCY1A_HUMAN	PCYT1A	HGNC	P49585	PCY1A_HUMAN	Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	C9JVS0_HUMAN,C9JPY0_HUMAN,C9J050_HUMAN		7	692	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		UPI000000DB72	173			Catalytic (Potential).		SNV	PCYT1A,stop_gained,p.Tyr173Ter,ENST00000292823,NM_005017.2;PCYT1A,stop_gained,p.Tyr173Ter,ENST00000431016,;PCYT1A,stop_gained,p.Tyr173Ter,ENST00000419333,;PCYT1A,stop_gained,p.Tyr173Ter,ENST00000411591,;PCYT1A,stop_gained,p.Tyr107Ter,ENST00000430755,;PCYT1A,stop_gained,p.Tyr46Ter,ENST00000433733,;SLC51A,3_prime_UTR_variant,,ENST00000415111,;PCYT1A,intron_variant,,ENST00000441879,;PCYT1A,downstream_gene_variant,,ENST00000443555,;PCYT1A,downstream_gene_variant,,ENST00000412869,;SLC51A,downstream_gene_variant,,ENST00000479732,;SLC51A,downstream_gene_variant,,ENST00000496737,;PCYT1A,downstream_gene_variant,,ENST00000491544,;PCYT1A,non_coding_transcript_exon_variant,,ENST00000473978,;PCYT1A,non_coding_transcript_exon_variant,,ENST00000460677,;PCYT1A,non_coding_transcript_exon_variant,,ENST00000488235,;PCYT1A,downstream_gene_variant,,ENST00000444822,;PCYT1A,upstream_gene_variant,,ENST00000460827,;PCYT1A,downstream_gene_variant,,ENST00000438634,;	uc003fwg.2	c.519T>G	692/5597	5	4			c.519T>G						3	SNP	c.(517-519)TAT>TAG	34	34				0	Broad	choline phosphate cytidylyltransferase 1 alpha		Choline(DB00122)	195969479		0.428	ENSG00000161217	11418	g.chr3:195969479A>C		cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity							87.835543	KEEP	13	21	-1	76	85	13	21	-1	101.833328	76	85	0.19375	1	0	0	0	0	0	1	0	0	--	--		0	C			PCYT1A_uc003fwh.2_Nonsense_Mutation_p.Y173*	141	GBM-14-0871-TP	p.Y173*	A	CAGCAGATGAATAAGGAATAT	NM_005017	NP_005008	195969479	P49585	PCY1A_HUMAN	0	Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	7	692	-	C	C	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Nonsense_Mutation	173			Catalytic (Potential).			
PCYT1A	5130		GRCh37	3	195965686	195965686	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000292823.2:c.977G>A	p.Arg326His	p.R326H	ENST00000292823	NM_005017.2	326	cGc/cAc	0																																																																																																																																																																																																																																												
PDC	0	broad.mit.edu	GRCh37	1	186413476	186413476	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-41-4097-01	TCGA-41-4097-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000391997.2:c.376A>C	p.Thr126Pro	p.T126P	ENST00000391997	NM_002597.4	126	Aca/Cca	0			1			G	T/P	uc001gsa.2	protein_coding	YES	CCDS1370.1			376/741									skin(1)	1	c.(376-378)ACA>CCA			Gene3D:3.40.30.10,Pfam_domain:PF02114,Prints_domain:PR00677,hmmpanther:PTHR21148,hmmpanther:PTHR21148:SF17,Superfamily_domains:SSF52833	phosducin isoform a				ENSP00000375855		4-Apr									COSM3400117	4-Apr	.		ENST00000391997	Transcript			G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity	ENSG00000116703	g.chr1:186413476T>G	8759			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=PHOS_HUMAN&rb=1&re=246&var=T126P	getma.org/pdb.php?prot=PHOS_HUMAN&from=1&to=246&var=T126P	getma.org/?cm=var&var=hg19,1,186413476,T,G&fts=all	T126P	--	--	1																																		PDC_uc001grz.2_Missense_Mutation_p.T74P	1	1		possibly_damaging(0.825)	p.T126P	NM_002597	NP_002588		deleterious(0.02)	1	PHOS_HUMAN	PDC	HGNC	P20941	PHOS_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)	Q9UP23_HUMAN,Q52LP8_HUMAN		4	449	-		Breast(1374;1.53e-05)	UPI00001319D2	126					SNV	PDC,missense_variant,p.Thr126Pro,ENST00000391997,NM_002597.4;PDC,missense_variant,p.Thr74Pro,ENST00000497198,NM_022576.3;PDC,missense_variant,p.Thr126Pro,ENST00000340129,;PDC,missense_variant,p.Thr74Pro,ENST00000456239,;	uc001gsa.2	c.376A>C	464/1242	3	3			c.376A>C						1	SNP	c.(376-378)ACA>CCA	11	11			skin(1)	1	Broad	phosducin isoform a			186413476		0.398	ENSG00000116703	11422	g.chr1:186413476T>G	G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity							178.782581	KEEP	36	36	-1	132	133	36	36	-1	201.133038	132	133	0.212329	1	0	0	0	0	1	0	0	0	--	--		0	G			PDC_uc001grz.2_Missense_Mutation_p.T74P	257	GBM-41-4097-TP	p.T126P	T	TTTTCAATTGTTTCTAGGAAT	NM_002597	NP_002588	186413476	P20941	PHOS_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)	4	449	-	G	G		Breast(1374;1.53e-05)	Missense_Mutation	126						
PDCD11	0	broad.mit.edu	GRCh37	10	105204397	105204397	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-27-2528-01	TCGA-27-2528-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369797.3:c.5402A>G	p.Tyr1801Cys	p.Y1801C	ENST00000369797	NM_014976.1	1801	tAt/tGt	0	G:0.0002		1			G	Y/C	uc001kwy.1	protein_coding	YES	CCDS31276.1			5402/5616									ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7	c.(5401-5403)TAT>TGT			Gene3D:1.25.40.10,Pfam_domain:PF05843,hmmpanther:PTHR23270,hmmpanther:PTHR23270:SF5,SMART_domains:SM00386,Superfamily_domains:SSF48452	programmed cell death 11			G:0	ENSP00000358812		35/36	1.65E-05	9.62E-05						6.06E-05	rs377470805,COSM3396896	35/36	.		ENST00000369797	Transcript			mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	ENSG00000148843	g.chr10:105204397A>G	13408			MODERATE		3.14	medium	getma.org/?cm=msa&ty=f&p=RRP5_HUMAN&rb=1725&re=1870&var=Y1801C	getma.org/pdb.php?prot=RRP5_HUMAN&from=1725&to=1870&var=Y1801C	getma.org/?cm=var&var=hg19,10,105204397,A,G&fts=all	Y1801C	--	--	1																																			0,1	1		probably_damaging(0.971)	p.Y1801C	NM_014976	NP_055791		deleterious(0)	0,1	RRP5_HUMAN	PDCD11	HGNC	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)			35	5489	+		Colorectal(252;0.0747)|Breast(234;0.128)	UPI00001C1ED1	1801			HAT 3.		SNV	PDCD11,missense_variant,p.Tyr1801Cys,ENST00000369797,NM_014976.1;CALHM2,downstream_gene_variant,,ENST00000393235,;CALHM2,downstream_gene_variant,,ENST00000260743,NM_015916.4;CALHM2,downstream_gene_variant,,ENST00000369788,;CALHM2,downstream_gene_variant,,ENST00000494180,;PDCD11,non_coding_transcript_exon_variant,,ENST00000478543,;	uc001kwy.1	c.5402A>G	5496/6453	3	3			c.5402A>G						10	SNP	c.(5401-5403)TAT>TGT	6	6			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7	Broad	programmed cell death 11			105204397		0.597	ENSG00000148843	11425	g.chr10:105204397A>G	mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			545			545	219.863525	KEEP	31	33	-1	22	36	31	33	-1	220.20279	22	36	0.560748	1	0	0	0	0	1	0	0	0	--	--		0	G				205	GBM-27-2528-TP	p.Y1801C	A	TGGTCGGTCTATATCGACATG	NM_014976	NP_055791	105204397	Q14690	RRP5_HUMAN	0		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	35	5489	+	G	G		Colorectal(252;0.0747)|Breast(234;0.128)	Missense_Mutation	1801			HAT 3.			
PDCL2	0	broad.mit.edu	GRCh37	4	56435994	56435994	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-27-1831-01	TCGA-27-1831-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295645.4:c.253A>G	p.Lys85Glu	p.K85E	ENST00000295645	NM_152401.2	85	Aaa/Gaa	0		C:0	1	C:0		C	K/E	uc003hbb.2	protein_coding	YES	CCDS47059.1			253/726										0	c.(253-255)AAA>GAA			hmmpanther:PTHR21148:SF18,hmmpanther:PTHR21148,Gene3D:3.40.30.10,Pfam_domain:PF02114,Superfamily_domains:SSF52833	phosducin-like 2		C:0.001		ENSP00000295645	C:0	6-Apr	4.24E-05			0.000623				0.000502	rs200093988,COSM3409374	6-Apr	common_variant		ENST00000295645	Transcript		C:0.0002				ENSG00000163440	g.chr4:56435994T>C	29524			MODERATE		0.865	low	getma.org/?cm=msa&ty=f&p=PDCL2_HUMAN&rb=8&re=235&var=K85E	getma.org/pdb.php?prot=PDCL2_HUMAN&from=8&to=235&var=K85E	getma.org/?cm=var&var=hg19,4,56435994,T,C&fts=all	K85E	--	--	1																																			0,1	1		benign(0.009)	p.K85E	NM_152401	NP_689614	C:0	tolerated(0.96)	0,1	PDCL2_HUMAN	PDCL2	HGNC	Q8N4E4	PDCL2_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)				4	356	-	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		UPI000020B8D5	85					SNV	PDCL2,missense_variant,p.Lys85Glu,ENST00000295645,NM_152401.2;	uc003hbb.2	c.253A>G	356/861	4	4			c.253A>G						4	SNP	c.(253-255)AAA>GAA	45	45				0	Broad	phosducin-like 2			56435994		0.289	ENSG00000163440	11435	g.chr4:56435994T>C										10.222279	KEEP	0	4	-1	5	3	0	4	-1	10.443545	5	3	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	C				190	GBM-27-1831-TP	p.K85E	T	TTTTGTTTTTTCTTAAGAGCT	NM_152401	NP_689614	56435994	Q8N4E4	PDCL2_HUMAN	0	LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)		4	356	-	C	C	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		Missense_Mutation	85						
PDE10A	10846		GRCh37	6	165808689	165808689	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000539869.2:c.1486C>T	p.Arg496Trp	p.R496W	ENST00000539869	NM_001130690.2	496	Cgg/Tgg	0																																																																																																																																																																																																																																												
PDE1A	5136	broad.mit.edu	GRCh37	2	183053766	183053766	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0157-01	TCGA-06-0157-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000435564.1:c.1195G>A	p.Gly399Arg	p.G399R	ENST00000435564	NM_001258312.1	399	Ggg/Agg	0			1			T	G/R	uc002uos.2	protein_coding		CCDS33344.1			1195/1608									skin(2)|ovary(1)	3	c.(1195-1197)GGG>AGG			Superfamily_domains:SSF109604,Gene3D:1.10.1300.10,Pfam_domain:PF00233,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF34	phosphodiesterase 1A isoform 2				ENSP00000387037		15-Dec									COSM2150032,COSM2150035,COSM3407379,COSM2150033,COSM2150034	15-Dec	.		ENST00000410103	Transcript			activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	ENSG00000115252	g.chr2:183053766C>T	8774			MODERATE		3.55	high	getma.org/?cm=msa&ty=f&p=PDE1A_HUMAN&rb=218&re=450&var=G399R	getma.org/pdb.php?prot=PDE1A_HUMAN&from=218&to=450&var=G399R	getma.org/?cm=var&var=hg19,2,183053766,C,T&fts=all	G399R	--	--	1																																		PDE1A_uc010zfp.1_Missense_Mutation_p.G295R|PDE1A_uc002uoq.1_Missense_Mutation_p.G399R|PDE1A_uc010zfq.1_Missense_Mutation_p.G399R|PDE1A_uc002uor.2_Missense_Mutation_p.G383R|PDE1A_uc002uou.2_Missense_Mutation_p.G365R	1,1,1,1,1			probably_damaging(1)	p.G399R	NM_001003683	NP_001003683		deleterious(0)	1,1,1,1,1	PDE1A_HUMAN	PDE1A	HGNC	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		Q9Y246_HUMAN,Q9UNL9_HUMAN,Q53TB0_HUMAN,Q53T15_HUMAN		12	1279	-			UPI000003B33F	399			Catalytic (By similarity).		SNV	PDE1A,missense_variant,p.Gly399Arg,ENST00000435564,NM_001258312.1,NM_005019.4;PDE1A,missense_variant,p.Gly383Arg,ENST00000351439,NM_001258313.1;PDE1A,missense_variant,p.Gly295Arg,ENST00000536095,;PDE1A,missense_variant,p.Gly383Arg,ENST00000409365,;PDE1A,missense_variant,p.Gly399Arg,ENST00000410103,NM_001003683.2;PDE1A,missense_variant,p.Gly365Arg,ENST00000346717,;PDE1A,missense_variant,p.Gly399Arg,ENST00000456212,;PDE1A,missense_variant,p.Gly399Arg,ENST00000331935,;PDE1A,missense_variant,p.Gly399Arg,ENST00000358139,;	uc002uos.2	c.1195G>A	1279/2000	1	1			c.1195G>A						2	SNP	c.(1195-1197)GGG>AGG	1	1			skin(2)|ovary(1)	3	Broad	phosphodiesterase 1A isoform 2			183053766		0.413	ENSG00000115252	11441	g.chr2:183053766C>T	activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding							382.630805	KEEP	62	66	-1	84	89	62	66	-1	383.964484	84	89	0.425455	1	0	0	0	0	1	0	0	0	--	--		0	T			PDE1A_uc010zfp.1_Missense_Mutation_p.G295R|PDE1A_uc002uoq.1_Missense_Mutation_p.G399R|PDE1A_uc010zfq.1_Missense_Mutation_p.G399R|PDE1A_uc002uor.2_Missense_Mutation_p.G383R|PDE1A_uc002uou.2_Missense_Mutation_p.G365R	28	GBM-06-0157-TP	p.G399R	C	AATGGAAGCCCTAATTCAGCT	NM_001003683	NP_001003683	183053766	P54750	PDE1A_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.061)		12	1279	-	T	T			Missense_Mutation	399			Catalytic (By similarity).			
PDE1A	0	broad.mit.edu	GRCh37	2	183094871	183094871	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G			TCGA-14-2554-01	TCGA-14-2554-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000410103.1:c.585T>C	p.Ile195=	p.I195=	ENST00000410103	NM_001003683.2	195	atT/atC	0			1			G	I	uc002uos.2	protein_coding		CCDS33344.1			585/1608									skin(2)|ovary(1)	3	c.(583-585)ATT>ATC			Superfamily_domains:SSF109604,Gene3D:1.10.1300.10,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF34	phosphodiesterase 1A isoform 2				ENSP00000387037		15-Jul									COSM3407385,COSM3407389,COSM3407388,COSM3407386,COSM3407387	15-Jul	.		ENST00000410103	Transcript			activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	ENSG00000115252	g.chr2:183094871A>G	8774			LOW								--	--	1																																		PDE1A_uc010zfp.1_Silent_p.I91I|PDE1A_uc002uoq.1_Silent_p.I195I|PDE1A_uc010zfq.1_Silent_p.I195I|PDE1A_uc002uor.2_Silent_p.I179I|PDE1A_uc002uou.2_Silent_p.I161I	1,1,1,1,1				p.I195I	NM_001003683	NP_001003683			1,1,1,1,1	PDE1A_HUMAN	PDE1A	HGNC	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		Q9Y246_HUMAN,Q9UNL9_HUMAN,Q53TB0_HUMAN,Q53T15_HUMAN		7	669	-			UPI000003B33F	195			Catalytic (By similarity).		SNV	PDE1A,splice_region_variant,p.=,ENST00000435564,NM_001258312.1,NM_005019.4;PDE1A,splice_region_variant,p.=,ENST00000351439,NM_001258313.1;PDE1A,splice_region_variant,p.=,ENST00000536095,;PDE1A,splice_region_variant,p.=,ENST00000409365,;PDE1A,splice_region_variant,p.=,ENST00000410103,NM_001003683.2;PDE1A,splice_region_variant,p.=,ENST00000346717,;PDE1A,splice_region_variant,p.=,ENST00000456212,;PDE1A,splice_region_variant,p.=,ENST00000331935,;PDE1A,splice_region_variant,p.=,ENST00000358139,;PDE1A,splice_region_variant,,ENST00000482538,;PDE1A,downstream_gene_variant,,ENST00000495511,;PDE1A,downstream_gene_variant,,ENST00000482782,;PDE1A,downstream_gene_variant,,ENST00000462938,;	uc002uos.2	c.585T>C	669/2000	3	3			c.585T>C						2	SNP	c.(583-585)ATT>ATC	9	9			skin(2)|ovary(1)	3	Broad	phosphodiesterase 1A isoform 2			183094871		0.348	ENSG00000115252	11441	g.chr2:183094871A>G	activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding							107.843673	KEEP	14	20	-1	35	39	14	20	-1	110.661171	35	39	0.323529	1	0	0	0	0	0	0	1	0	--	--		0	G			PDE1A_uc010zfp.1_Silent_p.I91I|PDE1A_uc002uoq.1_Silent_p.I195I|PDE1A_uc010zfq.1_Silent_p.I195I|PDE1A_uc002uor.2_Silent_p.I179I|PDE1A_uc002uou.2_Silent_p.I161I	150	GBM-14-2554-TP	p.I195I	A	AAGAAACAGGAATCTGTGGAA	NM_001003683	NP_001003683	183094871	P54750	PDE1A_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.061)		7	669	-	G	G			Silent	195			Catalytic (By similarity).			
PDE1A	0	broad.mit.edu	GRCh37	2	183066517	183066517	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G			TCGA-27-2519-01	TCGA-27-2519-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000410103.1:c.951-1G>C		p.X317_splice	ENST00000410103	NM_001003683.2			0			1			G		uc002uos.2	protein_coding		CCDS33344.1			951/1608									skin(2)|ovary(1)	3	c.e10-1				phosphodiesterase 1A isoform 2				ENSP00000387037											COSM3407380,COSM3407384,COSM3407383,COSM3407381,COSM3407382		.		ENST00000410103	Transcript			activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	ENSG00000115252	g.chr2:183066517C>G	8774			HIGH	14-Sep							--	--	1																																		PDE1A_uc010zfp.1_Splice_Site_p.R213_splice|PDE1A_uc002uoq.1_Splice_Site_p.R317_splice|PDE1A_uc010zfq.1_Splice_Site_p.R317_splice|PDE1A_uc002uor.2_Splice_Site_p.R301_splice|PDE1A_uc002uou.2_Splice_Site_p.R283_splice	1,1,1,1,1				p.R317_splice	NM_001003683	NP_001003683			1,1,1,1,1	PDE1A_HUMAN	PDE1A	HGNC	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		Q9Y246_HUMAN,Q9UNL9_HUMAN,Q53TB0_HUMAN,Q53T15_HUMAN		10	1035	-			UPI000003B33F						SNV	PDE1A,splice_acceptor_variant,,ENST00000435564,NM_001258312.1,NM_005019.4;PDE1A,splice_acceptor_variant,,ENST00000351439,NM_001258313.1;PDE1A,splice_acceptor_variant,,ENST00000536095,;PDE1A,splice_acceptor_variant,,ENST00000409365,;PDE1A,splice_acceptor_variant,,ENST00000410103,NM_001003683.2;PDE1A,splice_acceptor_variant,,ENST00000346717,;PDE1A,splice_acceptor_variant,,ENST00000456212,;PDE1A,splice_acceptor_variant,,ENST00000331935,;PDE1A,splice_acceptor_variant,,ENST00000358139,;	uc002uos.2	c.951_splice	-/2000	5	3			c.951_splice						2	SNP	c.e10-1	49	49			skin(2)|ovary(1)	3	Broad	phosphodiesterase 1A isoform 2			183066517		0.289	ENSG00000115252	11441	g.chr2:183066517C>G	activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding							-31.418032	KEEP	0	3	-1	88	77	0	3	-1	6.764895	88	77	0.02027	1	0	0	0	0	0	0	0	1	--	--		0	G			PDE1A_uc010zfp.1_Splice_Site_p.R213_splice|PDE1A_uc002uoq.1_Splice_Site_p.R317_splice|PDE1A_uc010zfq.1_Splice_Site_p.R317_splice|PDE1A_uc002uor.2_Splice_Site_p.R301_splice|PDE1A_uc002uou.2_Splice_Site_p.R283_splice	199	GBM-27-2519-TP	p.R317_splice	C	CCGAAGATCCCTGCAGAGTCA	NM_001003683	NP_001003683	183066517	P54750	PDE1A_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.061)		10	1035	-	G	G			Splice_Site							
PDE1C	5137	broad.mit.edu	GRCh37	7	31855588	31855588	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396193.1:c.1943G>A	p.Arg648His	p.R648H	ENST00000396193	NM_001191058.1	648	cGt/cAt	0			1			T	R/H	uc003tcm.1	protein_coding		CCDS55099.1			1763/2130									skin(3)|central_nervous_system(1)	4	c.(1762-1764)CGT>CAT				phosphodiesterase 1C				ENSP00000318105		16/19	1.65E-05					3.00E-05			rs746042793,COSM2151512,COSM2151511,COSM2151510	16/19	.		ENST00000321453	Transcript			activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	ENSG00000154678	g.chr7:31855588C>T	8776			MODERATE		-0.205	neutral	getma.org/?cm=msa&ty=f&p=PDE1C_HUMAN&rb=521&re=707&var=R588H	NA	getma.org/?cm=var&var=hg19,7,31855588,C,T&fts=all	R588H	--	--	1																																		PDE1C_uc003tcn.1_Missense_Mutation_p.R588H|PDE1C_uc003tco.1_Missense_Mutation_p.R648H|PDE1C_uc003tcr.2_Missense_Mutation_p.R588H|PDE1C_uc003tcs.2_Missense_Mutation_p.R588H	0,1,1,1			benign(0)	p.R588H	NM_005020	NP_005011		tolerated_low_confidence(0.26)	0,1,1,1	PDE1C_HUMAN	PDE1C	HGNC	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		Q75MW3_HUMAN,F8W905_HUMAN		15	2232	-			UPI0000127BE9	588					SNV	PDE1C,missense_variant,p.Arg588His,ENST00000396184,NM_005020.2;PDE1C,missense_variant,p.Arg648His,ENST00000396193,NM_001191058.1;PDE1C,missense_variant,p.Arg588His,ENST00000396191,NM_001191057.1;PDE1C,missense_variant,p.Arg588His,ENST00000321453,NM_001191059.1;PDE1C,missense_variant,p.Arg588His,ENST00000396182,NM_001191056.1;PDE1C,non_coding_transcript_exon_variant,,ENST00000479980,;	uc003tcm.1	c.1763G>A	2223/2898	1	1			c.1763G>A						7	SNP	c.(1762-1764)CGT>CAT	13	13			skin(3)|central_nervous_system(1)	4	Broad	phosphodiesterase 1C			31855588		0.468	ENSG00000154678	11443	g.chr7:31855588C>T	activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding							155.366107	KEEP	64	41	-1	247	166	64	41	-1	190.079813	247	166	0.207763	1	0	0	0	0	1	0	0	0	--	--		0	T			PDE1C_uc003tcn.1_Missense_Mutation_p.R588H|PDE1C_uc003tco.1_Missense_Mutation_p.R648H|PDE1C_uc003tcr.2_Missense_Mutation_p.R588H|PDE1C_uc003tcs.2_Missense_Mutation_p.R588H	62	GBM-06-0649-TP	p.R588H	C	GTTTTTCCCACGAGGGTTGTC	NM_005020	NP_005011	31855588	Q14123	PDE1C_HUMAN	0	GBM - Glioblastoma multiforme(11;0.216)		15	2232	-	T	T			Missense_Mutation	588						
PDE1C	5137	broad.mit.edu	GRCh37	7	31890345	31890345	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01	TCGA-06-5415-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396193.1:c.941C>T	p.Thr314Met	p.T314M	ENST00000396193	NM_001191058.1	314	aCg/aTg	0	A:0.0002		1			A	T/M	uc003tcm.1	protein_coding		CCDS55099.1			761/2130									skin(3)|central_nervous_system(1)	4	c.(760-762)ACG>ATG			Gene3D:1.10.1300.10,Pfam_domain:PF00233,Prints_domain:PR00387,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF32,SMART_domains:SM00471,Superfamily_domains:SSF109604	phosphodiesterase 1C			A:0	ENSP00000318105		19-Sep	6.59E-05	9.61E-05	0.000348			3.00E-05		6.06E-05	rs377062465,COSM2153256,COSM2153255,COSM2153254	19-Sep	.		ENST00000321453	Transcript			activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	ENSG00000154678	g.chr7:31890345G>A	8776			MODERATE		3.405	medium	getma.org/?cm=msa&ty=f&p=PDE1C_HUMAN&rb=227&re=460&var=T254M	getma.org/pdb.php?prot=PDE1C_HUMAN&from=227&to=460&var=T254M	getma.org/?cm=var&var=hg19,7,31890345,G,A&fts=all	T254M	--	--	1																																		PDE1C_uc003tcn.1_Missense_Mutation_p.T254M|PDE1C_uc003tco.1_Missense_Mutation_p.T314M|PDE1C_uc003tcr.2_Missense_Mutation_p.T254M|PDE1C_uc003tcs.2_Missense_Mutation_p.T254M	0,1,1,1			probably_damaging(0.946)	p.T254M	NM_005020	NP_005011		deleterious(0)	0,1,1,1	PDE1C_HUMAN	PDE1C	HGNC	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		Q75MW3_HUMAN,F8W905_HUMAN		8	1230	-			UPI0000127BE9	254			Catalytic (By similarity).		SNV	PDE1C,missense_variant,p.Thr254Met,ENST00000396184,NM_005020.2;PDE1C,missense_variant,p.Thr314Met,ENST00000396193,NM_001191058.1;PDE1C,missense_variant,p.Thr254Met,ENST00000396191,NM_001191057.1;PDE1C,missense_variant,p.Thr254Met,ENST00000321453,NM_001191059.1;PDE1C,missense_variant,p.Thr254Met,ENST00000396182,NM_001191056.1;PDE1C,non_coding_transcript_exon_variant,,ENST00000478736,;	uc003tcm.1	c.761C>T	1221/2898	2	2			c.761C>T						7	SNP	c.(760-762)ACG>ATG	17	17			skin(3)|central_nervous_system(1)	4	Broad	phosphodiesterase 1C			31890345		0.463	ENSG00000154678	11443	g.chr7:31890345G>A	activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding							114.604194	KEEP	23	30	-1	44	60	23	30	-1	116.672745	44	60	0.360656	1	0	0	0	0	1	0	0	0	--	--		0	A			PDE1C_uc003tcn.1_Missense_Mutation_p.T254M|PDE1C_uc003tco.1_Missense_Mutation_p.T314M|PDE1C_uc003tcr.2_Missense_Mutation_p.T254M|PDE1C_uc003tcs.2_Missense_Mutation_p.T254M	98	GBM-06-5415-TP	p.T254M	G	CTCCAGCTCCGTCAGCCAGTT	NM_005020	NP_005011	31890345	Q14123	PDE1C_HUMAN	0	GBM - Glioblastoma multiforme(11;0.216)		8	1230	-	A	A			Missense_Mutation	254			Catalytic (By similarity).			
PDE1C	0	broad.mit.edu	GRCh37	7	32091191	32091191	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C			TCGA-12-0688-01	TCGA-12-0688-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321453.7:c.103A>G	p.Arg35Gly	p.R35G	ENST00000321453	NM_001191059.1	35	Agg/Ggg	0			1			C	R/G	uc003tcm.1	protein_coding		CCDS55099.1			103/2130									skin(3)|central_nervous_system(1)	4	c.(103-105)AGG>GGG			Coiled-coils_(Ncoils):Coil	phosphodiesterase 1C				ENSP00000318105		19-Mar									COSM2153938,COSM2153937	19-Mar	.		ENST00000321453	Transcript			activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	ENSG00000154678	g.chr7:32091191T>C	8776			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=PDE1C_HUMAN&rb=1&re=81&var=R35G	NA	getma.org/?cm=var&var=hg19,7,32091191,T,C&fts=all	R35G	--	--	1																																		PDE1C_uc003tcn.1_Missense_Mutation_p.R35G|PDE1C_uc003tco.1_Intron|PDE1C_uc003tcr.2_Missense_Mutation_p.R35G|PDE1C_uc003tcs.2_Missense_Mutation_p.R35G	1,1			benign(0.143)	p.R35G	NM_005020	NP_005011		deleterious_low_confidence(0.01)	1,1	PDE1C_HUMAN	PDE1C	HGNC	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		Q75MW3_HUMAN,F8W905_HUMAN		2	572	-			UPI0000127BE9	35					SNV	PDE1C,missense_variant,p.Arg35Gly,ENST00000396184,NM_005020.2;PDE1C,missense_variant,p.Arg35Gly,ENST00000396191,NM_001191057.1;PDE1C,missense_variant,p.Arg35Gly,ENST00000321453,NM_001191059.1;PDE1C,missense_variant,p.Arg35Gly,ENST00000396182,NM_001191056.1;PDE1C,missense_variant,p.Arg35Gly,ENST00000396189,;PDE1C,intron_variant,,ENST00000396193,NM_001191058.1;PDE1C,intron_variant,,ENST00000464881,;	uc003tcm.1	c.103A>G	563/2898	4	4			c.103A>G						7	SNP	c.(103-105)AGG>GGG	45	45			skin(3)|central_nervous_system(1)	4	Broad	phosphodiesterase 1C			32091191		0.468	ENSG00000154678	11443	g.chr7:32091191T>C	activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding							52.750865	KEEP	12	8	-1	43	35	12	8	-1	58.950184	43	35	0.224719	1	0	0	0	0	1	0	0	0	--	--		0	C			PDE1C_uc003tcn.1_Missense_Mutation_p.R35G|PDE1C_uc003tco.1_Intron|PDE1C_uc003tcr.2_Missense_Mutation_p.R35G|PDE1C_uc003tcs.2_Missense_Mutation_p.R35G	121	GBM-12-0688-TP	p.R35G	T	TTATATTTCCTCCTGTAAGAA	NM_005020	NP_005011	32091191	Q14123	PDE1C_HUMAN	0	GBM - Glioblastoma multiforme(11;0.216)		2	572	-	C	C			Missense_Mutation	35						
PDE1C	0	broad.mit.edu	GRCh37	7	31855673	31855673	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01	TCGA-19-5951-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321453.7:c.1678G>A	p.Ala560Thr	p.A560T	ENST00000321453	NM_001191059.1	560	Gca/Aca	0		T:0.0008	1	T:0		T	A/T	uc003tcm.1	protein_coding		CCDS55099.1			1678/2130									skin(3)|central_nervous_system(1)	4	c.(1678-1680)GCA>ACA			Gene3D:1.10.1300.10	phosphodiesterase 1C		T:0		ENSP00000318105	T:0	16/19	2.47E-05	9.61E-05						0.000121	rs558149608,COSM2156593,COSM2156592,COSM2156591	16/19	.		ENST00000321453	Transcript		T:0.0002	activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	ENSG00000154678	g.chr7:31855673C>T	8776			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=PDE1C_HUMAN&rb=521&re=707&var=A560T	NA	getma.org/?cm=var&var=hg19,7,31855673,C,T&fts=all	A560T	--	--	1																																		PDE1C_uc003tcn.1_Missense_Mutation_p.A560T|PDE1C_uc003tco.1_Missense_Mutation_p.A620T|PDE1C_uc003tcr.2_Missense_Mutation_p.A560T|PDE1C_uc003tcs.2_Missense_Mutation_p.A560T	0,1,1,1			benign(0.001)	p.A560T	NM_005020	NP_005011	T:0	tolerated(0.83)	0,1,1,1	PDE1C_HUMAN	PDE1C	HGNC	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		Q75MW3_HUMAN,F8W905_HUMAN		15	2147	-			UPI0000127BE9	560					SNV	PDE1C,missense_variant,p.Ala560Thr,ENST00000396184,NM_005020.2;PDE1C,missense_variant,p.Ala620Thr,ENST00000396193,NM_001191058.1;PDE1C,missense_variant,p.Ala560Thr,ENST00000396191,NM_001191057.1;PDE1C,missense_variant,p.Ala560Thr,ENST00000321453,NM_001191059.1;PDE1C,missense_variant,p.Ala560Thr,ENST00000396182,NM_001191056.1;PDE1C,non_coding_transcript_exon_variant,,ENST00000479980,;	uc003tcm.1	c.1678G>A	2138/2898	2	2			c.1678G>A						7	SNP	c.(1678-1680)GCA>ACA	17	17			skin(3)|central_nervous_system(1)	4	Broad	phosphodiesterase 1C			31855673		0.502	ENSG00000154678	11443	g.chr7:31855673C>T	activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding							278.638516	KEEP	52	52	-1	70	79	52	52	-1	279.976255	70	79	0.41704	1	0	0	0	0	1	0	0	0	--	--		0	T			PDE1C_uc003tcn.1_Missense_Mutation_p.A560T|PDE1C_uc003tco.1_Missense_Mutation_p.A620T|PDE1C_uc003tcr.2_Missense_Mutation_p.A560T|PDE1C_uc003tcs.2_Missense_Mutation_p.A560T	171	GBM-19-5951-TP	p.A560T	C	TTGCCAGATGCGCCTTCTTCA	NM_005020	NP_005011	31855673	Q14123	PDE1C_HUMAN	0	GBM - Glioblastoma multiforme(11;0.216)		15	2147	-	T	T			Missense_Mutation	560						
PDE2A	5138	broad.mit.edu	GRCh37	11	72293532	72293532	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0750-01	TCGA-06-0750-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334456.5:c.1807T>C	p.Phe603Leu	p.F603L	ENST00000334456	NM_002599.4	603	Ttc/Ctc	0			1			G	F/L	uc010rrc.1	protein_coding	YES	CCDS8216.1			1807/2826									ovary(2)|breast(1)|skin(1)	4	c.(1807-1809)TTC>CTC			hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF102,Gene3D:1.10.1300.10,Superfamily_domains:SSF109604	phosphodiesterase 2A isoform 1	Sildenafil(DB00203)|Sulindac(DB00605)			ENSP00000334910		21/31									COSM2151938,COSM2151940,COSM2151939	21/31	.		ENST00000334456	Transcript			platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	ENSG00000186642	g.chr11:72293532A>G	8777			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=PDE2A_HUMAN&rb=549&re=654&var=F603L	getma.org/pdb.php?prot=PDE2A_HUMAN&from=549&to=654&var=F603L	getma.org/?cm=var&var=hg19,11,72293532,A,G&fts=all	F603L	--	--	1																																		PDE2A_uc001oso.2_Missense_Mutation_p.F582L|PDE2A_uc010rra.1_Missense_Mutation_p.F596L|PDE2A_uc001osn.2_Missense_Mutation_p.F347L|PDE2A_uc010rrb.1_Missense_Mutation_p.F594L|PDE2A_uc010rrd.1_Missense_Mutation_p.F488L	1,1,1	1		benign(0.221)	p.F603L	NM_002599	NP_002590		tolerated(0.1)	1,1,1	PDE2A_HUMAN	PDE2A	HGNC	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		F5GXX2_HUMAN,C9JPD5_HUMAN		21	2050	-			UPI000003B340	603					SNV	PDE2A,missense_variant,p.Phe603Leu,ENST00000334456,NM_002599.4;PDE2A,missense_variant,p.Phe594Leu,ENST00000444035,;PDE2A,missense_variant,p.Phe347Leu,ENST00000376450,;PDE2A,missense_variant,p.Phe596Leu,ENST00000544570,NM_001243784.1,NM_001143839.3;PDE2A,missense_variant,p.Phe594Leu,ENST00000540345,NM_001146209.2;PDE2A,missense_variant,p.Phe488Leu,ENST00000418754,;PDE2A,missense_variant,p.Phe144Leu,ENST00000441209,;PDE2A,missense_variant,p.Phe34Leu,ENST00000542223,;PDE2A,upstream_gene_variant,,ENST00000420501,;PDE2A,downstream_gene_variant,,ENST00000475807,;PDE2A,downstream_gene_variant,,ENST00000538299,;RP11-169D4.2,upstream_gene_variant,,ENST00000545254,;PDE2A,3_prime_UTR_variant,,ENST00000539367,;PDE2A,upstream_gene_variant,,ENST00000536918,;PDE2A,upstream_gene_variant,,ENST00000544239,;	uc010rrc.1	c.1807T>C	2053/4315	4	4			c.1807T>C						11	SNP	c.(1807-1809)TTC>CTC	20	20			ovary(2)|breast(1)|skin(1)	4	Broad	phosphodiesterase 2A isoform 1		Sildenafil(DB00203)|Sulindac(DB00605)	72293532		0.537	ENSG00000186642	11444	g.chr11:72293532A>G	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding							83.063508	KEEP	20	16	-1	34	32	20	16	-1	85.073821	34	32	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	G			PDE2A_uc001oso.2_Missense_Mutation_p.F582L|PDE2A_uc010rra.1_Missense_Mutation_p.F596L|PDE2A_uc001osn.2_Missense_Mutation_p.F347L|PDE2A_uc010rrb.1_Missense_Mutation_p.F594L|PDE2A_uc010rrd.1_Missense_Mutation_p.F488L	70	GBM-06-0750-TP	p.F603L	A	GTATAGGTGAAACTTGCAAAA	NM_002599	NP_002590	72293532	O00408	PDE2A_HUMAN	0	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		21	2050	-	G	G			Missense_Mutation	603						
PDE3A	5139	broad.mit.edu	GRCh37	12	20790147	20790147	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0128-01	TCGA-06-0128-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359062.3:c.2115A>G	p.Arg705=	p.R705=	ENST00000359062	NM_001244683.1	705	agA/agG	0			1			G	R	uc001reh.1	protein_coding	YES	CCDS31754.1			2115/3426									ovary(3)|upper_aerodigestive_tract(1)	4	c.(2113-2115)AGA>AGG			hmmpanther:PTHR11347:SF104,hmmpanther:PTHR11347,Gene3D:1.10.1300.10,Superfamily_domains:SSF109604	phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)			ENSP00000351957		16-Sep									COSM2149489	16-Sep	.		ENST00000359062	Transcript	1		lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	ENSG00000172572	g.chr12:20790147A>G	8778			LOW								--	--	1																																			1	1			p.R705R	NM_000921	NP_000912			1	PDE3A_HUMAN	PDE3A	HGNC	Q14432	PDE3A_HUMAN					9	2137	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	UPI000014175F	705					SNV	PDE3A,synonymous_variant,p.=,ENST00000359062,NM_001244683.1,NM_000921.4;PDE3A,non_coding_transcript_exon_variant,,ENST00000544307,;	uc001reh.1	c.2115A>G	2155/7576	3	3			c.2115A>G						12	SNP	c.(2113-2115)AGA>AGG	4	4			ovary(3)|upper_aerodigestive_tract(1)	4	Broad	phosphodiesterase 3A		Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	20790147		0.343	ENSG00000172572	11445	g.chr12:20790147A>G	lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding							98.757701	KEEP	14	20	-1	30	26	14	20	-1	99.88301	30	26	0.371795	1	0	0	0	0	0	0	1	0	--	--		0	G				14	GBM-06-0128-TP	p.R705R	A	ATATAGGAAGAAAATGTGGCC	NM_000921	NP_000912	20790147	Q14432	PDE3A_HUMAN	0			9	2137	+	G	G	Esophageal squamous(101;0.125)	Breast(259;0.134)	Silent	705						
PDE3A	0	broad.mit.edu	GRCh37	12	20807040	20807040	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01	TCGA-12-0616-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359062.3:c.3085G>A	p.Asp1029Asn	p.D1029N	ENST00000359062	NM_001244683.1	1029	Gac/Aac	0			1			A	D/N	uc001reh.1	protein_coding	YES	CCDS31754.1			3085/3426									ovary(3)|upper_aerodigestive_tract(1)	4	c.(3085-3087)GAC>AAC			Low_complexity_(Seg):seg,hmmpanther:PTHR11347:SF104,hmmpanther:PTHR11347,Gene3D:1.10.1300.10,Superfamily_domains:SSF109604	phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)			ENSP00000351957		15/16									COSM3398599	15/16	.		ENST00000359062	Transcript	1		lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	ENSG00000172572	g.chr12:20807040G>A	8778			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=PDE3A_HUMAN&rb=996&re=1063&var=D1029N	getma.org/pdb.php?prot=PDE3A_HUMAN&from=1026&to=1033&var=D1029N	getma.org/?cm=var&var=hg19,12,20807040,G,A&fts=all	D1029N	--	--	1																																			1	1		benign(0.25)	p.D1029N	NM_000921	NP_000912		deleterious(0.04)	1	PDE3A_HUMAN	PDE3A	HGNC	Q14432	PDE3A_HUMAN					15	3107	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	UPI000014175F	1029			Catalytic (By similarity).		SNV	PDE3A,missense_variant,p.Asp1029Asn,ENST00000359062,NM_001244683.1,NM_000921.4;PDE3A,non_coding_transcript_exon_variant,,ENST00000544307,;	uc001reh.1	c.3085G>A	3125/7576	2	2			c.3085G>A						12	SNP	c.(3085-3087)GAC>AAC	28	28			ovary(3)|upper_aerodigestive_tract(1)	4	Broad	phosphodiesterase 3A		Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	20807040		0.478	ENSG00000172572	11445	g.chr12:20807040G>A	lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding							-22.211282	KEEP	1	3	-1	69	61	1	3	-1	7.72805	69	61	0.032	1	0	0	0	0	1	0	0	0	--	--		0	A				118	GBM-12-0616-TP	p.D1029N	G	ATGGGTGGAAGACAGCGATGA	NM_000921	NP_000912	20807040	Q14432	PDE3A_HUMAN	0			15	3107	+	A	A	Esophageal squamous(101;0.125)	Breast(259;0.134)	Missense_Mutation	1029			Catalytic (By similarity).			
PDE3B	5140		GRCh37	11	14839801	14839801	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000282096.4:c.1595G>A	p.Arg532Gln	p.R532Q	ENST00000282096	NM_000922.3	532	cGa/cAa	0																																																																																																																																																																																																																																												
PDE4A	5141		GRCh37	19	10561526	10561526	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000352831.6:c.694del	p.Arg232GlyfsTer35	p.R232Gfs*35	ENST00000352831	NM_001111307.1	231	gCc/gc	0																																																																																																																																																																																																																																												
PDE4C	5143	broad.mit.edu	GRCh37	19	18331288	18331288	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-02-2483-01	TCGA-02-2483-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355502.3:c.633C>T	p.Asp211=	p.D211=	ENST00000355502		211	gaC/gaT	0			1			A	D	uc010xqc.1	protein_coding	YES	CCDS12373.1			633/2139									ovary(2)|skin(2)|central_nervous_system(1)	5	c.(631-633)GAC>GAT			hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF94	phosphodiesterase 4C isoform PDE4C-2	Dyphylline(DB00651)			ENSP00000347689		19-Oct	4.12E-05			0.000116				0.000243	rs760869430,COSM2149123	19-Oct	.		ENST00000355502	Transcript			signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	ENSG00000105650	g.chr19:18331288G>A	8782			LOW								--	--	1																																		PDE4C_uc002nik.3_Silent_p.D211D|PDE4C_uc002nil.3_Silent_p.D211D|PDE4C_uc002nif.3_Translation_Start_Site|PDE4C_uc002nig.3_Intron|PDE4C_uc002nih.3_Intron|PDE4C_uc010ebk.2_Silent_p.D105D|PDE4C_uc002nii.3_Silent_p.D179D|PDE4C_uc010ebl.2_Translation_Start_Site|PDE4C_uc010xqd.1_Translation_Start_Site|PDE4C_uc010ebm.1_RNA|PDE4C_uc002nim.1_Nonsense_Mutation_p.R195*	0,1	1			p.D211D	NM_001098819	NP_001092289			0,1	PDE4C_HUMAN	PDE4C	HGNC	Q08493	PDE4C_HUMAN			Q9UPJ5_HUMAN,Q9P1U3_HUMAN,Q32MM7_HUMAN,O76105_HUMAN,M0R1P5_HUMAN,B7Z2S3_HUMAN		6	1113	-			UPI0000127BF8	211	D -> Y (in Ref. 2; AAD47053/AAD47054).				SNV	PDE4C,synonymous_variant,p.=,ENST00000355502,;PDE4C,synonymous_variant,p.=,ENST00000594617,NM_000923.4;PDE4C,synonymous_variant,p.=,ENST00000594465,;PDE4C,synonymous_variant,p.=,ENST00000447275,NM_001098819.2;PDE4C,synonymous_variant,p.=,ENST00000262805,NM_001098818.2;PDE4C,5_prime_UTR_variant,,ENST00000539010,;PDE4C,intron_variant,,ENST00000597297,;PDE4C,intron_variant,,ENST00000598111,;PDE4C,downstream_gene_variant,,ENST00000610023,;PDE4C,downstream_gene_variant,,ENST00000599754,;AC068499.10,non_coding_transcript_exon_variant,,ENST00000594805,;PDE4C,stop_gained,p.Arg163Ter,ENST00000599188,;PDE4C,3_prime_UTR_variant,,ENST00000593594,;PDE4C,3_prime_UTR_variant,,ENST00000595343,;PDE4C,non_coding_transcript_exon_variant,,ENST00000597360,;PDE4C,non_coding_transcript_exon_variant,,ENST00000597573,;	uc010xqc.1	c.633C>T	1505/5979	2	2			c.633C>T						19	SNP	c.(631-633)GAC>GAT	17	17			ovary(2)|skin(2)|central_nervous_system(1)	5	Broad	phosphodiesterase 4C isoform PDE4C-2		Dyphylline(DB00651)	18331288		0.672	ENSG00000105650	11449	g.chr19:18331288G>A	signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding							56.462607	KEEP	13	13	-1	30	18	13	13	-1	57.431998	30	18	0.362069	1	0	0	0	0	0	0	1	0	--	--		0	A			PDE4C_uc002nik.3_Silent_p.D211D|PDE4C_uc002nil.3_Silent_p.D211D|PDE4C_uc002nif.3_Translation_Start_Site|PDE4C_uc002nig.3_Intron|PDE4C_uc002nih.3_Intron|PDE4C_uc010ebk.2_Silent_p.D105D|PDE4C_uc002nii.3_Silent_p.D179D|PDE4C_uc010ebl.2_Translation_Start_Site|PDE4C_uc010xqd.1_Translation_Start_Site|PDE4C_uc010ebm.1_RNA|PDE4C_uc002nim.1_Nonsense_Mutation_p.R195*	6	GBM-02-2483-TP	p.D211D	G	AGTCCAGCTCGTCTAGCGTCT	NM_001098819	NP_001092289	18331288	Q08493	PDE4C_HUMAN	0			6	1113	-	A	A			Silent	211	D -> Y (in Ref. 2; AAD47053/AAD47054).					
PDE4C	5143	broad.mit.edu	GRCh37	19	18327614	18327614	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0743-01	TCGA-06-0743-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355502.3:c.1422C>T	p.Cys474=	p.C474=	ENST00000355502		474	tgC/tgT	0		A:0	1	A:0		A	C	uc010xqc.1	protein_coding	YES	CCDS12373.1			1422/2139									ovary(2)|skin(2)|central_nervous_system(1)	5	c.(1420-1422)TGC>TGT			Gene3D:1.10.1300.10,Pfam_domain:PF00233,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF94,SMART_domains:SM00471,Superfamily_domains:SSF109604	phosphodiesterase 4C isoform PDE4C-2	Dyphylline(DB00651)	A:0		ENSP00000347689	A:0	16/19	5.77E-05			0.000579				0.000121	rs564646126,COSM3403957	16/19	common_variant		ENST00000355502	Transcript		A:0.0004	signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	ENSG00000105650	g.chr19:18327614G>A	8782			LOW								--	--	1																																		PDE4C_uc002nik.3_Silent_p.C474C|PDE4C_uc002nil.3_Silent_p.C474C|PDE4C_uc002nif.3_Silent_p.C243C|PDE4C_uc002nig.3_Silent_p.C189C|PDE4C_uc002nih.3_Silent_p.C244C|PDE4C_uc010ebk.2_Silent_p.C368C|PDE4C_uc002nii.3_Silent_p.C442C|PDE4C_uc010ebl.2_Silent_p.C188C|PDE4C_uc010xqd.1_Silent_p.C243C	0,1	1			p.C474C	NM_001098819	NP_001092289	A:0.002		0,1	PDE4C_HUMAN	PDE4C	HGNC	Q08493	PDE4C_HUMAN			Q9UPJ5_HUMAN,Q9P1U3_HUMAN,Q32MM7_HUMAN,O76105_HUMAN,M0R1P5_HUMAN,B7Z2S3_HUMAN		12	1902	-			UPI0000127BF8	474					SNV	PDE4C,synonymous_variant,p.=,ENST00000355502,;PDE4C,synonymous_variant,p.=,ENST00000594617,NM_000923.4;PDE4C,synonymous_variant,p.=,ENST00000594465,;PDE4C,synonymous_variant,p.=,ENST00000447275,NM_001098819.2;PDE4C,synonymous_variant,p.=,ENST00000262805,NM_001098818.2;PDE4C,synonymous_variant,p.=,ENST00000539010,;PDE4C,synonymous_variant,p.=,ENST00000597297,;PDE4C,synonymous_variant,p.=,ENST00000598111,;PDE4C,downstream_gene_variant,,ENST00000610023,;AC068499.10,intron_variant,,ENST00000594805,;PDE4C,3_prime_UTR_variant,,ENST00000599188,;PDE4C,non_coding_transcript_exon_variant,,ENST00000597360,;PDE4C,downstream_gene_variant,,ENST00000597573,;PDE4C,downstream_gene_variant,,ENST00000593594,;PDE4C,downstream_gene_variant,,ENST00000595343,;	uc010xqc.1	c.1422C>T	2294/5979	2	2			c.1422C>T						19	SNP	c.(1420-1422)TGC>TGT	41	41			ovary(2)|skin(2)|central_nervous_system(1)	5	Broad	phosphodiesterase 4C isoform PDE4C-2		Dyphylline(DB00651)	18327614		0.602	ENSG00000105650	11449	g.chr19:18327614G>A	signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding							86.702808	KEEP	17	23	-1	58	63	17	23	-1	95.291512	58	63	0.248322	1	0	0	0	0	0	0	1	0	--	--		0	A			PDE4C_uc002nik.3_Silent_p.C474C|PDE4C_uc002nil.3_Silent_p.C474C|PDE4C_uc002nif.3_Silent_p.C243C|PDE4C_uc002nig.3_Silent_p.C189C|PDE4C_uc002nih.3_Silent_p.C244C|PDE4C_uc010ebk.2_Silent_p.C368C|PDE4C_uc002nii.3_Silent_p.C442C|PDE4C_uc010ebl.2_Silent_p.C188C|PDE4C_uc010xqd.1_Silent_p.C243C	65	GBM-06-0743-TP	p.C474C	G	GGAAGATATCGCAGTTCTCTG	NM_001098819	NP_001092289	18327614	Q08493	PDE4C_HUMAN	0			12	1902	-	A	A			Silent	474						
PDE4DIP	9659	broad.mit.edu	GRCh37	1	144873981	144873981	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369356.4:c.4976C>A	p.Ser1659Ter	p.S1659*	ENST00000369356	NM_014644.5	1659	tCa/tAa	0			1			T	S/*	uc001elw.3	protein_coding		CCDS30824.1			4976/7041	T		PDGFRB		MPD				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5	c.(4975-4977)TCA>TAA			hmmpanther:PTHR13895,hmmpanther:PTHR13895:SF2	phosphodiesterase 4D interacting protein isoform				ENSP00000358360		31/44									COSM3801578,COSM3801579,COSM3801577	31/44	.		ENST00000369354	Transcript			cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	ENSG00000178104	g.chr1:144873981G>T	15580			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,144873981,G,T&fts=all	S1659*	--	--	1																																		NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Nonsense_Mutation_p.S1615*|PDE4DIP_uc001elv.3_Nonsense_Mutation_p.S666*	1,1,1				p.S1659*	NM_014644	NP_055459			1,1,1	MYOME_HUMAN	PDE4DIP	HGNC	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	I1VE15_HUMAN		31	5267	-			UPI0000251FAA	1659					SNV	PDE4DIP,stop_gained,p.Ser1795Ter,ENST00000369359,;PDE4DIP,stop_gained,p.Ser1659Ter,ENST00000369356,NM_014644.5,NM_001198834.3;PDE4DIP,stop_gained,p.Ser1659Ter,ENST00000369354,;PDE4DIP,stop_gained,p.Ser1615Ter,ENST00000313382,NM_001198832.2;PDE4DIP,intron_variant,,ENST00000530740,;AL138796.1,upstream_gene_variant,,ENST00000582173,;RP4-791M13.5,upstream_gene_variant,,ENST00000531288,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000524974,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000479369,;PDE4DIP,intron_variant,,ENST00000530062,;PDE4DIP,intron_variant,,ENST00000525886,;	uc001elw.3	c.4976C>A	5166/8262	5	1			c.4976C>A	T		PDGFRB		MPD	1	SNP	c.(4975-4977)TCA>TAA	4	4			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5	Broad	phosphodiesterase 4D interacting protein isoform			144873981		0.473	ENSG00000178104	11451	g.chr1:144873981G>T	cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			595			595	-155.306134	KEEP	7	5	0.583333333	366	339	7	5	0.583333333	17.342633	366	339	0.01682	1	0	0	0	0	0	1	0	0	--	--		0	T			NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Nonsense_Mutation_p.S1615*|PDE4DIP_uc001elv.3_Nonsense_Mutation_p.S666*	18	GBM-06-0137-TP	p.S1659*	G	ACTGGTTGATGATGGTTTAGA	NM_014644	NP_055459	144873981	Q5VU43	MYOME_HUMAN	0		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	31	5267	-	T	T			Nonsense_Mutation	1659						
PDE4DIP	0	broad.mit.edu	GRCh37	1	144863324	144863324	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-16-1045-01	TCGA-16-1045-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369354.3:c.6079delC	p.Leu2027Ter	p.L2027*	ENST00000369354		2027	Ctg/tg	0			1			-	L/X	uc001elw.3	protein_coding		CCDS30824.1			6079/7041	T		PDGFRB		MPD				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5	c.(6079-6081)CTGfs			hmmpanther:PTHR13895,hmmpanther:PTHR13895:SF2	phosphodiesterase 4D interacting protein isoform				ENSP00000358360		37/44									COSM392222,COSM1261766	37/44	.		ENST00000369354	Transcript			cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	ENSG00000178104	g.chr1:144863324delG	15580			HIGH								--	--	1																																		NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Frame_Shift_Del_p.L1921fs|PDE4DIP_uc001elv.3_Frame_Shift_Del_p.L1034fs|PDE4DIP_uc001ema.2_3'UTR	1,1				p.L2027fs	NM_014644	NP_055459			1,1	MYOME_HUMAN	PDE4DIP	HGNC	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	I1VE15_HUMAN		37	6370	-			UPI0000251FAA	2027			Potential.		deletion	PDE4DIP,frameshift_variant,p.Leu2163Ter,ENST00000369359,;PDE4DIP,frameshift_variant,p.Leu2027Ter,ENST00000369356,NM_014644.5,NM_001198834.3;PDE4DIP,frameshift_variant,p.Leu2112Ter,ENST00000530740,;PDE4DIP,frameshift_variant,p.Leu2027Ter,ENST00000369354,;PDE4DIP,frameshift_variant,p.Leu1921Ter,ENST00000313382,NM_001198832.2;PDE4DIP,frameshift_variant,p.Leu184Ter,ENST00000530130,;RP4-791M13.4,intron_variant,,ENST00000532137,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000524974,;PDE4DIP,intron_variant,,ENST00000526664,;PDE4DIP,downstream_gene_variant,,ENST00000494734,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000479369,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000481227,;PDE4DIP,intron_variant,,ENST00000530062,;PDE4DIP,upstream_gene_variant,,ENST00000534466,;PDE4DIP,downstream_gene_variant,,ENST00000527901,;PDE4DIP,downstream_gene_variant,,ENST00000525886,;	uc001elw.3	c.6079delC	6269/8262	5	5			c.6079delC	T		PDGFRB		MPD	1	DEL	c.(6079-6081)CTGfs	30	30			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5	Broad	phosphodiesterase 4D interacting protein isoform			144863324		0.488	ENSG00000178104	11451	g.chr1:144863324delG	cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			595			595														0.02	1	1	0	1	0	0	0	0	0	--	--		0	-			NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Frame_Shift_Del_p.L1921fs|PDE4DIP_uc001elv.3_Frame_Shift_Del_p.L1034fs|PDE4DIP_uc001ema.2_3'UTR	157	GBM-16-1045-TP	p.L2027fs	G	ATACCTTTCAGCCCCTTCTTG	NM_014644	NP_055459	144863324	Q5VU43	MYOME_HUMAN	0		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	37	6370	-	-	-			Frame_Shift_Del	2027			Potential.			
PDE4DIP	9659		GRCh37	1	144859794	144859794	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000369356.4:c.6290G>C	p.Ser2097Thr	p.S2097T	ENST00000369356	NM_014644.5	2097	aGc/aCc	0																																																																																																																																																																																																																																												
PDE4DIP	9659		GRCh37	1	144859988	144859988	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000369356.4:c.6096G>C	p.Leu2032=	p.L2032=	ENST00000369356	NM_014644.5	2032	ctG/ctC	0																																																																																																																																																																																																																																												
PDE6A	0	broad.mit.edu	GRCh37	5	149265912	149265912	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255266.5:c.1754C>T	p.Thr585Met	p.T585M	ENST00000255266	NM_000440.2	585	aCg/aTg	0			1			A	T/M	uc003lrg.3	protein_coding	YES	CCDS4299.1			1754/2583									ovary(1)|pancreas(1)	2	c.(1753-1755)ACG>ATG			hmmpanther:PTHR11347:SF25,hmmpanther:PTHR11347,Gene3D:1.10.1300.10,Pfam_domain:PF00233,SMART_domains:SM00471,Superfamily_domains:SSF109604,Prints_domain:PR00387	phosphodiesterase 6A				ENSP00000255266		14/22	1.65E-05							0.000122	rs547792004,COSM3409996	14/22	.		ENST00000255266	Transcript	1		cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	ENSG00000132915	g.chr5:149265912G>A	8785			MODERATE		2.61	medium	getma.org/?cm=msa&ty=f&p=PDE6A_HUMAN&rb=558&re=806&var=T585M	getma.org/pdb.php?prot=PDE6A_HUMAN&from=558&to=806&var=T585M	getma.org/?cm=var&var=hg19,5,149265912,G,A&fts=all	T585M	--	--	1																																			0,1	1		probably_damaging(0.998)	p.T585M	NM_000440	NP_000431		deleterious(0)	0,1	PDE6A_HUMAN	PDE6A	HGNC	P16499	PDE6A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		O75316_HUMAN		14	1874	-			UPI000013CE9F	585					SNV	PDE6A,missense_variant,p.Thr585Met,ENST00000255266,NM_000440.2;PDE6A,non_coding_transcript_exon_variant,,ENST00000508173,;	uc003lrg.3	c.1754C>T	1874/5642	2	2			c.1754C>T						5	SNP	c.(1753-1755)ACG>ATG	26	26			ovary(1)|pancreas(1)	2	Broad	phosphodiesterase 6A			149265912		0.532	ENSG00000132915	11453	g.chr5:149265912G>A	cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding							21.722792	KEEP	5	5	-1	25	16	5	5	-1	25.112523	25	16	0.217391	1	0	0	0	0	1	0	0	0	--	--		0	A				230	GBM-32-1979-TP	p.T585M	G	CTCTAGGTCCGTGAAGTAGCG	NM_000440	NP_000431	149265912	P16499	PDE6A_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		14	1874	-	A	A			Missense_Mutation	585						
PDE6B	0	broad.mit.edu	GRCh37	4	619881	619881	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01	TCGA-28-5219-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000496514.1:c.466G>A	p.Glu156Lys	p.E156K	ENST00000496514		156	Gag/Aag	0			1			A	E/K	uc003gap.2	protein_coding	YES	CCDS33932.1			466/2565										0	c.(466-468)GAG>AAG			Superfamily_domains:SSF55781,SMART_domains:SM00065,Gene3D:3.30.450.40,Pfam_domain:PF01590,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF73	phosphodiesterase 6B isoform 1				ENSP00000420295		22-Jan	1.67E-05		0.000504					0.000114	rs751982910,COSM3409390	22-Jan	common_variant		ENST00000496514	Transcript	1		cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	ENSG00000133256	g.chr4:619881G>A	8786			MODERATE		1.085	low	getma.org/?cm=msa&ty=f&p=PDE6B_HUMAN&rb=71&re=219&var=E156K	getma.org/pdb.php?prot=PDE6B_HUMAN&from=71&to=219&var=E156K	getma.org/?cm=var&var=hg19,4,619881,G,A&fts=all	E156K	--	--	1																																		PDE6B_uc003gao.3_Missense_Mutation_p.E156K	0,1	1		benign(0.05)	p.E156K	NM_000283	NP_000274		tolerated(0.86)	0,1	PDE6B_HUMAN	PDE6B	HGNC	P35913	PDE6B_HUMAN			H7C4P9_HUMAN,C9J628_HUMAN		1	519	+			UPI0000DBEE72	156			GAF 1.		SNV	PDE6B,missense_variant,p.Glu156Lys,ENST00000255622,NM_000283.3,NM_001145291.1;PDE6B,missense_variant,p.Glu156Lys,ENST00000496514,;	uc003gap.2	c.466G>A	487/3232	2	2			c.466G>A						4	SNP	c.(466-468)GAG>AAG	43	43				0	Broad	phosphodiesterase 6B isoform 1			619881		0.642	ENSG00000133256	11454	g.chr4:619881G>A	cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	GBM(71;463 1194 9848 25922 46834)			GBM(71;463 1194 9848 25922 46834)			12.398741	KEEP	2	2	-1	4	1	2	2	-1	12.422968	4	1	0.444444	1	0	0	0	0	1	0	0	0	--	--		0	A			PDE6B_uc003gao.3_Missense_Mutation_p.E156K	225	GBM-28-5219-TP	p.E156K	G	GGACGTGGCCGAGGTGGGTCT	NM_000283	NP_000274	619881	P35913	PDE6B_HUMAN	0			1	519	+	A	A			Missense_Mutation	156			GAF 1.			
PDE8A	0	broad.mit.edu	GRCh37	15	85664158	85664158	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs144501404	byFrequency	TCGA-76-4932-01	TCGA-76-4932-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310298.4:c.1865C>G	p.Thr622Ser	p.T622S	ENST00000310298		622	aCt/aGt	0			1			G	T/S	uc002blh.2	protein_coding	YES	CCDS10336.1			1865/2490									ovary(2)|pancreas(1)|skin(1)	4	c.(1864-1866)ACT>AGT			hmmpanther:PTHR11347:SF85,hmmpanther:PTHR11347,Gene3D:1.10.1300.10,Pfam_domain:PF00233,SMART_domains:SM00471,Superfamily_domains:SSF109604	phosphodiesterase 8A isoform 1				ENSP00000311453		19/23									COSM3401981	19/23	.		ENST00000310298	Transcript			cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	ENSG00000073417	g.chr15:85664158C>G	8793			MODERATE		0.66	neutral	getma.org/?cm=msa&ty=f&p=PDE8A_HUMAN&rb=555&re=810&var=T622S	getma.org/pdb.php?prot=PDE8A_HUMAN&from=555&to=810&var=T622S	getma.org/?cm=var&var=hg19,15,85664158,C,G&fts=all	T622S	--	--	1																																		PDE8A_uc002bli.2_Missense_Mutation_p.T576S|PDE8A_uc010bnc.2_Missense_Mutation_p.T375S|PDE8A_uc010bnd.2_Missense_Mutation_p.T375S|PDE8A_uc002blj.2_Missense_Mutation_p.T242S|PDE8A_uc002blk.2_Missense_Mutation_p.T242S|PDE8A_uc002bll.2_5'UTR	1	1		benign(0.004)	p.T622S	NM_002605	NP_002596		tolerated(0.06)	1	PDE8A_HUMAN	PDE8A	HGNC	O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		Q9UMB5_HUMAN,Q86XV4_HUMAN,B3KV57_HUMAN		18	2054	+	Colorectal(223;0.227)		UPI0000127C00	622			Catalytic (By similarity).		SNV	PDE8A,missense_variant,p.Thr622Ser,ENST00000310298,;PDE8A,missense_variant,p.Thr622Ser,ENST00000394553,NM_002605.2;PDE8A,missense_variant,p.Thr550Ser,ENST00000557957,NM_001243137.1;PDE8A,missense_variant,p.Thr576Ser,ENST00000339708,NM_173454.1;PDE8A,3_prime_UTR_variant,,ENST00000485596,;PDE8A,3_prime_UTR_variant,,ENST00000478717,;PDE8A,3_prime_UTR_variant,,ENST00000559742,;PDE8A,non_coding_transcript_exon_variant,,ENST00000560789,;PDE8A,non_coding_transcript_exon_variant,,ENST00000561024,;PDE8A,downstream_gene_variant,,ENST00000561374,;PDE8A,downstream_gene_variant,,ENST00000560333,;	uc002blh.2	c.1865C>G	2117/3984	3	3			c.1865C>G						15	SNP	c.(1864-1866)ACT>AGT	64	64			ovary(2)|pancreas(1)|skin(1)	4	Broad	phosphodiesterase 8A isoform 1			85664158		0.483	ENSG00000073417	11461	g.chr15:85664158C>G	cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity							-26.797778	KEEP	1	2	-1	68	70	1	2	-1	6.426929	68	70	0.022901	1	0	0	0	0	1	0	0	0	--	--		0	G			PDE8A_uc002bli.2_Missense_Mutation_p.T576S|PDE8A_uc010bnc.2_Missense_Mutation_p.T375S|PDE8A_uc010bnd.2_Missense_Mutation_p.T375S|PDE8A_uc002blj.2_Missense_Mutation_p.T242S|PDE8A_uc002blk.2_Missense_Mutation_p.T242S|PDE8A_uc002bll.2_5'UTR	271	GBM-76-4932-TP	p.T622S	C	TACAATGACACTGCTGTGCTG	NM_002605	NP_002596	85664158	O60658	PDE8A_HUMAN	0	BRCA - Breast invasive adenocarcinoma(143;0.0608)		18	2054	+	G	G	Colorectal(223;0.227)		Missense_Mutation	622			Catalytic (By similarity).			
PDGFD	80310	broad.mit.edu	GRCh37	11	103797801	103797801	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-6391-01	TCGA-06-6391-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393158.2:c.826A>G	p.Asn276Asp	p.N276D	ENST00000393158		276	Aat/Gat	0			1			C	N/D	uc001phq.2	protein_coding	YES	CCDS41703.1			826/1113									upper_aerodigestive_tract(1)|large_intestine(1)	2	c.(826-828)AAT>GAT			Gene3D:2.10.90.10,Pfam_domain:PF00341,PROSITE_profiles:PS50278,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF13,Superfamily_domains:SSF57501	platelet derived growth factor D isoform 1				ENSP00000376865		7-Jun										7-Jun	.		ENST00000393158	Transcript			positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	ENSG00000170962	g.chr11:103797801T>C	30620			MODERATE		2.25	medium	getma.org/?cm=msa&ty=f&p=PDGFD_HUMAN&rb=272&re=362&var=N276D	NA	getma.org/?cm=var&var=hg19,11,103797801,T,C&fts=all	N276D	--	--	1																																		PDGFD_uc001php.2_Missense_Mutation_p.N270D		1		probably_damaging(0.961)	p.N276D	NM_025208	NP_079484		deleterious(0)		PDGFD_HUMAN	PDGFD	HGNC	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)			6	1198	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	UPI0000034811	276					SNV	PDGFD,missense_variant,p.Asn270Asp,ENST00000302251,NM_025208.4,NM_033135.3;PDGFD,missense_variant,p.Asn276Asp,ENST00000393158,;	uc001phq.2	c.826A>G	1006/3801	3	3			c.826A>G						11	SNP	c.(826-828)AAT>GAT	6	6			upper_aerodigestive_tract(1)|large_intestine(1)	2	Broad	platelet derived growth factor D isoform 1			103797801		0.478	ENSG00000170962	11466	g.chr11:103797801T>C	positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity							34.098569	KEEP	7	7	-1	41	44	7	7	-1	42.724916	41	44	0.168675	1	0	0	0	0	1	0	0	0	--	--		0	C			PDGFD_uc001php.2_Missense_Mutation_p.N270D	107	GBM-06-6391-TP	p.N276D	T	ACCGAGTAATTCCTGGGAGTG	NM_025208	NP_079484	103797801	Q9GZP0	PDGFD_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	6	1198	-	C	C		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	Missense_Mutation	276						
PDGFRA	5156	broad.mit.edu	GRCh37	4	55152112	55152113	+	inframe_insertion	In_Frame_Ins	INS	-	-	TTT			TCGA-02-0047-01	TCGA-02-0047-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257290.5:c.2545_2546insTTT	p.Asn848_Tyr849insPhe	p.N848_Y849insF	ENST00000257290	NM_006206.4	848	-/TTT	0			1			TTT	-/F	uc003han.3	protein_coding	YES	CCDS3495.1			2544-2545/3270	Mis|O|T		FIP1L1		GIST|idiopathic hypereosinophilic syndrome			p.H845_N848>P(3)|p.N848K(1)|p.H845_N848del(1)	soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	c.(2542-2547)insTTT			PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF52,hmmpanther:PTHR24416,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,PIRSF_domain:PIRSF500950,PIRSF_domain:PIRSF000615,SMART_domains:SM00220,Superfamily_domains:SSF56112	platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)			ENSP00000257290		18/23										18/23	.	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	ENST00000257290	Transcript	1		cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	ENSG00000134853	g.chr4:55152112_55152113insTTT	8803	1		MODERATE								--	--	1				TSP Lung(21;0.16)																														PDGFRA_uc003haa.2_In_Frame_Ins_p.608_609insF		1			p.848_849insF	NM_006206	NP_006197				PGFRA_HUMAN	PDGFRA	HGNC	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		D6RIG5_HUMAN,D6RG11_HUMAN,D6RDX0_HUMAN		18	2875_2876	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		UPI0000131793	848_849			Protein kinase.|Cytoplasmic (Potential).		insertion	PDGFRA,inframe_insertion,p.Asn848_Tyr849insPhe,ENST00000257290,NM_006206.4;FIP1L1,inframe_insertion,p.Asn608_Tyr609insPhe,ENST00000507166,;PDGFRA,downstream_gene_variant,,ENST00000509490,;PDGFRA,downstream_gene_variant,,ENST00000507536,;	uc003han.3	c.2544_2545insTTT	2875-2876/6576	5	5			c.2544_2545insTTT	Mis|O|T		FIP1L1		GIST|idiopathic hypereosinophilic syndrome	4	INS	c.(2542-2547)insTTT	25	25		p.H845_N848>P(3)|p.N848K(1)|p.H845_N848del(1)	soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	Broad	platelet-derived growth factor receptor alpha		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	55152113	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	0.495	ENSG00000134853	11467	g.chr4:55152112_55152113insTTT	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	Pancreas(151;208 1913 7310 23853 37092)		1045	Pancreas(151;208 1913 7310 23853 37092)		1045														0.04	1	0	0	1	1	0	0	0	0	--	--	TSP Lung(21;0.16)	0	TTT			PDGFRA_uc003haa.2_In_Frame_Ins_p.608_609insF	3	GBM-02-0047-TP	p.848_849insF	-	ATGATTCGAACTATGTGTCGAA	NM_006206	NP_006197	55152112	P16234	PGFRA_HUMAN	0	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		18	2875_2876	+	TTT	TTT	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		In_Frame_Ins	848_849			Protein kinase.|Cytoplasmic (Potential).			
PDGFRA	5156	broad.mit.edu	GRCh37	4	55133834	55133834	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0174-01	TCGA-06-0174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257290.5:c.1047G>C	p.Trp349Cys	p.W349C	ENST00000257290	NM_006206.4	349	tgG/tgC	0			1			C	W/C	uc003han.3	protein_coding	YES	CCDS3495.1			1047/3270	Mis|O|T		FIP1L1		GIST|idiopathic hypereosinophilic syndrome			p.W349C(1)	soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	c.(1045-1047)TGG>TGC			hmmpanther:PTHR24416:SF52,hmmpanther:PTHR24416,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,PIRSF_domain:PIRSF500950,SMART_domains:SM00408,PIRSF_domain:PIRSF000615,Superfamily_domains:SSF48726	platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)			ENSP00000257290		23-Jul									COSM35395	23-Jul	.	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	ENST00000257290	Transcript	1		cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	ENSG00000134853	g.chr4:55133834G>C	8803			MODERATE		3.14	medium	getma.org/?cm=msa&ty=f&p=PGFRA_HUMAN&rb=319&re=411&var=W349C	getma.org/pdb.php?prot=PGFRA_HUMAN&from=319&to=411&var=W349C	getma.org/?cm=var&var=hg19,4,55133834,G,C&fts=all	W349C	--	--	1				TSP Lung(21;0.16)																														PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.W243C|PDGFRA_uc003ham.2_RNA	1	1		probably_damaging(1)	p.W349C	NM_006206	NP_006197		deleterious(0)	1	PGFRA_HUMAN	PDGFRA	HGNC	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		D6RIG5_HUMAN,D6RG11_HUMAN,D6RDX0_HUMAN		7	1378	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		UPI0000131793	349			Ig-like C2-type 4.|Extracellular (Potential).		SNV	PDGFRA,missense_variant,p.Trp349Cys,ENST00000257290,NM_006206.4;FIP1L1,intron_variant,,ENST00000507166,;PDGFRA,downstream_gene_variant,,ENST00000508170,;PDGFRA,downstream_gene_variant,,ENST00000504461,;PDGFRA,downstream_gene_variant,,ENST00000503856,;PDGFRA,downstream_gene_variant,,ENST00000512522,;PDGFRA,missense_variant,p.Trp349Cys,ENST00000509490,;PDGFRA,non_coding_transcript_exon_variant,,ENST00000509092,;	uc003han.3	c.1047G>C	1378/6576	3	3			c.1047G>C	Mis|O|T		FIP1L1		GIST|idiopathic hypereosinophilic syndrome	4	SNP	c.(1045-1047)TGG>TGC	61	61		p.W349C(1)	soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	Broad	platelet-derived growth factor receptor alpha		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	55133834	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	0.443	ENSG00000134853	11467	g.chr4:55133834G>C	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	Pancreas(151;208 1913 7310 23853 37092)		1045	Pancreas(151;208 1913 7310 23853 37092)		1045	2445.975546	KEEP	348	346	-1	139	166	348	346	-1	2481.469995	139	166	0.705757	1	0	0	0	0	1	0	0	0	--	--	TSP Lung(21;0.16)	0	C			PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.W243C|PDGFRA_uc003ham.2_RNA	37	GBM-06-0174-TP	p.W349C	G	GGATATCCTGGCTGAAAAACA	NM_006206	NP_006197	55133834	P16234	PGFRA_HUMAN	0	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		7	1378	+	C	C	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		Missense_Mutation	349			Ig-like C2-type 4.|Extracellular (Potential).			
PDGFRA	5156	broad.mit.edu	GRCh37	4	55156661	55156661	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0213-01	TCGA-06-0213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257290.5:c.3062C>T	p.Pro1021Leu	p.P1021L	ENST00000257290	NM_006206.4	1021	cCt/cTt	0			1			T	P/L	uc003han.3	protein_coding	YES	CCDS3495.1			3062/3270	Mis|O|T		FIP1L1		GIST|idiopathic hypereosinophilic syndrome				soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	c.(3061-3063)CCT>CTT			hmmpanther:PTHR24416:SF52,hmmpanther:PTHR24416,PIRSF_domain:PIRSF500950,PIRSF_domain:PIRSF000615	platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)			ENSP00000257290		22/23	8.24E-06					1.50E-05			rs772837015,COSM3409364	22/23	.	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	ENST00000257290	Transcript	1		cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	ENSG00000134853	g.chr4:55156661C>T	8803			MODERATE		2.085	medium	getma.org/?cm=msa&ty=f&p=PGFRA_HUMAN&rb=955&re=1087&var=P1021L	NA	getma.org/?cm=var&var=hg19,4,55156661,C,T&fts=all	P1021L	--	--	1				TSP Lung(21;0.16)																														PDGFRA_uc003haa.2_Missense_Mutation_p.P781L	0,1	1		probably_damaging(0.999)	p.P1021L	NM_006206	NP_006197		deleterious(0)	0,1	PGFRA_HUMAN	PDGFRA	HGNC	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		D6RIG5_HUMAN,D6RG11_HUMAN,D6RDX0_HUMAN		22	3393	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		UPI0000131793	1021			Cytoplasmic (Potential).		SNV	PDGFRA,missense_variant,p.Pro1021Leu,ENST00000257290,NM_006206.4;FIP1L1,missense_variant,p.Pro781Leu,ENST00000507166,;	uc003han.3	c.3062C>T	3393/6576	1	1			c.3062C>T	Mis|O|T		FIP1L1		GIST|idiopathic hypereosinophilic syndrome	4	SNP	c.(3061-3063)CCT>CTT	11	11			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	Broad	platelet-derived growth factor receptor alpha		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	55156661	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	0.562	ENSG00000134853	11467	g.chr4:55156661C>T	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	Pancreas(151;208 1913 7310 23853 37092)	p.P1021H(HEC151-Tumor)	1045	Pancreas(151;208 1913 7310 23853 37092)	p.P1021H(HEC151-Tumor)	1045	-15.925231	KEEP	1	4	-1	74	71	1	4	-1	11.446159	74	71	0.041322	1	0	0	0	0	1	0	0	0	--	--	TSP Lung(21;0.16)	0	T			PDGFRA_uc003haa.2_Missense_Mutation_p.P781L	49	GBM-06-0213-TP	p.P1021L	C	TACATCATTCCTCTGCCTGAC	NM_006206	NP_006197	55156661	P16234	PGFRA_HUMAN	0	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		22	3393	+	T	T	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		Missense_Mutation	1021			Cytoplasmic (Potential).			
PDGFRA	5156	broad.mit.edu	GRCh37	4	55131142	55131142	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01	TCGA-06-0214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257290.5:c.685G>A	p.Glu229Lys	p.E229K	ENST00000257290	NM_006206.4	229	Gaa/Aaa	0			1			A	E/K	uc003han.3	protein_coding	YES	CCDS3495.1			685/3270	Mis|O|T		FIP1L1		GIST|idiopathic hypereosinophilic syndrome				soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	c.(685-687)GAA>AAA			PROSITE_profiles:PS50835,hmmpanther:PTHR24416:SF52,hmmpanther:PTHR24416,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,PIRSF_domain:PIRSF500950,SMART_domains:SM00408,PIRSF_domain:PIRSF000615,Superfamily_domains:SSF48726,Prints_domain:PR01832	platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)			ENSP00000257290		23-May									COSM3409357	23-May	.	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	ENST00000257290	Transcript	1		cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	ENSG00000134853	g.chr4:55131142G>A	8803			MODERATE		2.56	medium	getma.org/?cm=msa&ty=f&p=PGFRA_HUMAN&rb=216&re=307&var=E229K	getma.org/pdb.php?prot=PGFRA_HUMAN&from=216&to=307&var=E229K	getma.org/?cm=var&var=hg19,4,55131142,G,A&fts=all	E229K	--	--	1				TSP Lung(21;0.16)																														PDGFRA_uc003haa.2_Intron|PDGFRA_uc003hal.2_3'UTR|PDGFRA_uc010igq.1_Missense_Mutation_p.E123K|PDGFRA_uc003ham.2_RNA	1	1		probably_damaging(0.969)	p.E229K	NM_006206	NP_006197		deleterious(0)	1	PGFRA_HUMAN	PDGFRA	HGNC	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		D6RIG5_HUMAN,D6RG11_HUMAN,D6RDX0_HUMAN		5	1016	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		UPI0000131793	229			Ig-like C2-type 3.|Extracellular (Potential).		SNV	PDGFRA,missense_variant,p.Glu229Lys,ENST00000257290,NM_006206.4;PDGFRA,3_prime_UTR_variant,,ENST00000508170,;FIP1L1,intron_variant,,ENST00000507166,;PDGFRA,downstream_gene_variant,,ENST00000504461,;PDGFRA,downstream_gene_variant,,ENST00000503856,;PDGFRA,downstream_gene_variant,,ENST00000512143,;PDGFRA,downstream_gene_variant,,ENST00000512522,;PDGFRA,missense_variant,p.Glu229Lys,ENST00000509490,;PDGFRA,non_coding_transcript_exon_variant,,ENST00000509092,;	uc003han.3	c.685G>A	1016/6576	2	2			c.685G>A	Mis|O|T		FIP1L1		GIST|idiopathic hypereosinophilic syndrome	4	SNP	c.(685-687)GAA>AAA	43	43			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	Broad	platelet-derived growth factor receptor alpha		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	55131142	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	0.413	ENSG00000134853	11467	g.chr4:55131142G>A	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	Pancreas(151;208 1913 7310 23853 37092)		1045	Pancreas(151;208 1913 7310 23853 37092)		1045	77.502437	KEEP	41	57	-1	466	436	41	57	-1	224.028372	466	436	0.10226	1	0	0	0	0	1	0	0	0	--	--	TSP Lung(21;0.16)	0	A			PDGFRA_uc003haa.2_Intron|PDGFRA_uc003hal.2_3'UTR|PDGFRA_uc010igq.1_Missense_Mutation_p.E123K|PDGFRA_uc003ham.2_RNA	50	GBM-06-0214-TP	p.E229K	G	TAAGTCAGGGGAAACGATTGT	NM_006206	NP_006197	55131142	P16234	PGFRA_HUMAN	0	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		5	1016	+	A	A	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		Missense_Mutation	229			Ig-like C2-type 3.|Extracellular (Potential).			
PDGFRA	5156	broad.mit.edu	GRCh37	4	55133901	55133901	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01	TCGA-06-2559-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257290.5:c.1114G>A	p.Glu372Lys	p.E372K	ENST00000257290	NM_006206.4	372	Gaa/Aaa	0			1			A	E/K	uc003han.3	protein_coding	YES	CCDS3495.1			1114/3270	Mis|O|T		FIP1L1		GIST|idiopathic hypereosinophilic syndrome				soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	c.(1114-1116)GAA>AAA			hmmpanther:PTHR24416:SF52,hmmpanther:PTHR24416,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,PIRSF_domain:PIRSF500950,SMART_domains:SM00408,PIRSF_domain:PIRSF000615,Superfamily_domains:SSF48726	platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)			ENSP00000257290		23-Jul									COSM2152662	23-Jul	.	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	ENST00000257290	Transcript	1		cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	ENSG00000134853	g.chr4:55133901G>A	8803			MODERATE		2.34	medium	getma.org/?cm=msa&ty=f&p=PGFRA_HUMAN&rb=319&re=411&var=E372K	getma.org/pdb.php?prot=PGFRA_HUMAN&from=319&to=411&var=E372K	getma.org/?cm=var&var=hg19,4,55133901,G,A&fts=all	E372K	--	--	1				TSP Lung(21;0.16)																														PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.E266K|PDGFRA_uc003ham.2_RNA	1	1		probably_damaging(0.989)	p.E372K	NM_006206	NP_006197		deleterious(0.04)	1	PGFRA_HUMAN	PDGFRA	HGNC	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		D6RIG5_HUMAN,D6RG11_HUMAN,D6RDX0_HUMAN		7	1445	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		UPI0000131793	372			Ig-like C2-type 4.|Extracellular (Potential).		SNV	PDGFRA,missense_variant,p.Glu372Lys,ENST00000257290,NM_006206.4;FIP1L1,intron_variant,,ENST00000507166,;PDGFRA,downstream_gene_variant,,ENST00000508170,;PDGFRA,downstream_gene_variant,,ENST00000504461,;PDGFRA,downstream_gene_variant,,ENST00000503856,;PDGFRA,downstream_gene_variant,,ENST00000512522,;PDGFRA,missense_variant,p.Glu372Lys,ENST00000509490,;PDGFRA,non_coding_transcript_exon_variant,,ENST00000509092,;	uc003han.3	c.1114G>A	1445/6576	1	1			c.1114G>A	Mis|O|T		FIP1L1		GIST|idiopathic hypereosinophilic syndrome	4	SNP	c.(1114-1116)GAA>AAA	57	57			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	Broad	platelet-derived growth factor receptor alpha		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	55133901	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	0.463	ENSG00000134853	11467	g.chr4:55133901G>A	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	Pancreas(151;208 1913 7310 23853 37092)		1045	Pancreas(151;208 1913 7310 23853 37092)		1045	528.67691	KEEP	109	126	-1	352	412	109	126	-1	592.645283	352	412	0.22766	1	0	0	0	0	1	0	0	0	--	--	TSP Lung(21;0.16)	0	A			PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.E266K|PDGFRA_uc003ham.2_RNA	83	GBM-06-2559-TP	p.E372K	G	AAAGATTCAGGAAATAAGGTA	NM_006206	NP_006197	55133901	P16234	PGFRA_HUMAN	0	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		7	1445	+	A	A	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		Missense_Mutation	372			Ig-like C2-type 4.|Extracellular (Potential).			
PDGFRA	0	broad.mit.edu	GRCh37	4	55138611	55138611	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257290.5:c.1288G>A	p.Gly430Arg	p.G430R	ENST00000257290	NM_006206.4	430	Gga/Aga	0			1			A	G/R	uc003han.3	protein_coding	YES	CCDS3495.1			1288/3270	Mis|O|T		FIP1L1		GIST|idiopathic hypereosinophilic syndrome				soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	c.(1288-1290)GGA>AGA			hmmpanther:PTHR24416:SF52,hmmpanther:PTHR24416,PIRSF_domain:PIRSF500950,PIRSF_domain:PIRSF000615	platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)			ENSP00000257290		23-Sep									COSM3409360	23-Sep	.	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	ENST00000257290	Transcript	1		cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	ENSG00000134853	g.chr4:55138611G>A	8803			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=PGFRA_HUMAN&rb=414&re=517&var=G430R	NA	getma.org/?cm=var&var=hg19,4,55138611,G,A&fts=all	G430R	--	--	1				TSP Lung(21;0.16)																														PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.G324R|PDGFRA_uc003ham.2_RNA	1	1		benign(0.02)	p.G430R	NM_006206	NP_006197		tolerated(0.82)	1	PGFRA_HUMAN	PDGFRA	HGNC	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		D6RIG5_HUMAN,D6RG11_HUMAN,D6RDX0_HUMAN		9	1619	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		UPI0000131793	430			Ig-like C2-type 5.|Extracellular (Potential).		SNV	PDGFRA,missense_variant,p.Gly430Arg,ENST00000257290,NM_006206.4;FIP1L1,intron_variant,,ENST00000507166,;PDGFRA,missense_variant,p.Gly430Arg,ENST00000509490,;PDGFRA,non_coding_transcript_exon_variant,,ENST00000509092,;PDGFRA,upstream_gene_variant,,ENST00000507536,;PDGFRA,upstream_gene_variant,,ENST00000461294,;	uc003han.3	c.1288G>A	1619/6576	2	2			c.1288G>A	Mis|O|T		FIP1L1		GIST|idiopathic hypereosinophilic syndrome	4	SNP	c.(1288-1290)GGA>AGA	44	44			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	Broad	platelet-derived growth factor receptor alpha		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	55138611	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	0.473	ENSG00000134853	11467	g.chr4:55138611G>A	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	Pancreas(151;208 1913 7310 23853 37092)		1045	Pancreas(151;208 1913 7310 23853 37092)		1045	1931.101645	KEEP	304	293	-1	92	129	304	293	-1	1967.939873	92	129	0.731836	1	0	0	0	0	1	0	0	0	--	--	TSP Lung(21;0.16)	0	A			PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.G324R|PDGFRA_uc003ham.2_RNA	159	GBM-19-1390-TP	p.G430R	G	CTCAACTGGGGGACAGACGGT	NM_006206	NP_006197	55138611	P16234	PGFRA_HUMAN	0	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		9	1619	+	A	A	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		Missense_Mutation	430			Ig-like C2-type 5.|Extracellular (Potential).			
PDGFRA	0	broad.mit.edu	GRCh37	4	55138664	55138664	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-19-1390-01	TCGA-19-1390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257290.5:c.1341G>C	p.Trp447Cys	p.W447C	ENST00000257290	NM_006206.4	447	tgG/tgC	0			1			C	W/C	uc003han.3	protein_coding	YES	CCDS3495.1			1341/3270	Mis|O|T		FIP1L1		GIST|idiopathic hypereosinophilic syndrome				soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	c.(1339-1341)TGG>TGC			hmmpanther:PTHR24416:SF52,hmmpanther:PTHR24416,PIRSF_domain:PIRSF500950,PIRSF_domain:PIRSF000615	platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)			ENSP00000257290		23-Sep									COSM3409361	23-Sep	.	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	ENST00000257290	Transcript	1		cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	ENSG00000134853	g.chr4:55138664G>C	8803			MODERATE		2.44	medium	getma.org/?cm=msa&ty=f&p=PGFRA_HUMAN&rb=414&re=517&var=W447C	NA	getma.org/?cm=var&var=hg19,4,55138664,G,C&fts=all	W447C	--	--	1				TSP Lung(21;0.16)																														PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.W341C|PDGFRA_uc003ham.2_RNA	1	1		possibly_damaging(0.759)	p.W447C	NM_006206	NP_006197		deleterious(0)	1	PGFRA_HUMAN	PDGFRA	HGNC	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		D6RIG5_HUMAN,D6RG11_HUMAN,D6RDX0_HUMAN		9	1672	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		UPI0000131793	447			Ig-like C2-type 5.|Extracellular (Potential).		SNV	PDGFRA,missense_variant,p.Trp447Cys,ENST00000257290,NM_006206.4;FIP1L1,intron_variant,,ENST00000507166,;PDGFRA,missense_variant,p.Trp447Cys,ENST00000509490,;PDGFRA,non_coding_transcript_exon_variant,,ENST00000509092,;PDGFRA,upstream_gene_variant,,ENST00000507536,;PDGFRA,upstream_gene_variant,,ENST00000461294,;	uc003han.3	c.1341G>C	1672/6576	3	3			c.1341G>C	Mis|O|T		FIP1L1		GIST|idiopathic hypereosinophilic syndrome	4	SNP	c.(1339-1341)TGG>TGC	55	55			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	Broad	platelet-derived growth factor receptor alpha		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	55138664	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	0.438	ENSG00000134853	11467	g.chr4:55138664G>C	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	Pancreas(151;208 1913 7310 23853 37092)		1045	Pancreas(151;208 1913 7310 23853 37092)		1045	1693.403691	KEEP	234	247	-1	107	101	234	247	-1	1715.195766	107	101	0.696063	1	0	0	0	0	1	0	0	0	--	--	TSP Lung(21;0.16)	0	C			PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.W341C|PDGFRA_uc003ham.2_RNA	159	GBM-19-1390-TP	p.W447C	G	ATATTGAGTGGATGATATGCA	NM_006206	NP_006197	55138664	P16234	PGFRA_HUMAN	0	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		9	1672	+	C	C	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		Missense_Mutation	447			Ig-like C2-type 5.|Extracellular (Potential).			
PDGFRA	0	broad.mit.edu	GRCh37	4	55131142	55131142	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01	TCGA-19-2631-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257290.5:c.685G>A	p.Glu229Lys	p.E229K	ENST00000257290	NM_006206.4	229	Gaa/Aaa	0			1			A	E/K	uc003han.3	protein_coding	YES	CCDS3495.1			685/3270	Mis|O|T		FIP1L1		GIST|idiopathic hypereosinophilic syndrome				soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	c.(685-687)GAA>AAA			PROSITE_profiles:PS50835,hmmpanther:PTHR24416:SF52,hmmpanther:PTHR24416,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,PIRSF_domain:PIRSF500950,SMART_domains:SM00408,PIRSF_domain:PIRSF000615,Superfamily_domains:SSF48726,Prints_domain:PR01832	platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)			ENSP00000257290		23-May									COSM3409357	23-May	.	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	ENST00000257290	Transcript	1		cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	ENSG00000134853	g.chr4:55131142G>A	8803			MODERATE		2.56	medium	getma.org/?cm=msa&ty=f&p=PGFRA_HUMAN&rb=216&re=307&var=E229K	getma.org/pdb.php?prot=PGFRA_HUMAN&from=216&to=307&var=E229K	getma.org/?cm=var&var=hg19,4,55131142,G,A&fts=all	E229K	--	--	1				TSP Lung(21;0.16)																														PDGFRA_uc003haa.2_Intron|PDGFRA_uc003hal.2_3'UTR|PDGFRA_uc010igq.1_Missense_Mutation_p.E123K|PDGFRA_uc003ham.2_RNA	1	1		probably_damaging(0.969)	p.E229K	NM_006206	NP_006197		deleterious(0)	1	PGFRA_HUMAN	PDGFRA	HGNC	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		D6RIG5_HUMAN,D6RG11_HUMAN,D6RDX0_HUMAN		5	1016	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		UPI0000131793	229			Ig-like C2-type 3.|Extracellular (Potential).		SNV	PDGFRA,missense_variant,p.Glu229Lys,ENST00000257290,NM_006206.4;PDGFRA,3_prime_UTR_variant,,ENST00000508170,;FIP1L1,intron_variant,,ENST00000507166,;PDGFRA,downstream_gene_variant,,ENST00000504461,;PDGFRA,downstream_gene_variant,,ENST00000503856,;PDGFRA,downstream_gene_variant,,ENST00000512143,;PDGFRA,downstream_gene_variant,,ENST00000512522,;PDGFRA,missense_variant,p.Glu229Lys,ENST00000509490,;PDGFRA,non_coding_transcript_exon_variant,,ENST00000509092,;	uc003han.3	c.685G>A	1016/6576	2	2			c.685G>A	Mis|O|T		FIP1L1		GIST|idiopathic hypereosinophilic syndrome	4	SNP	c.(685-687)GAA>AAA	43	43			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	Broad	platelet-derived growth factor receptor alpha		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	55131142	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	0.413	ENSG00000134853	11467	g.chr4:55131142G>A	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	Pancreas(151;208 1913 7310 23853 37092)		1045	Pancreas(151;208 1913 7310 23853 37092)		1045	-110.696292	KEEP	18	8	-1	371	354	18	8	-1	41.18113	371	354	0.035494	1	0	0	0	0	1	0	0	0	--	--	TSP Lung(21;0.16)	0	A			PDGFRA_uc003haa.2_Intron|PDGFRA_uc003hal.2_3'UTR|PDGFRA_uc010igq.1_Missense_Mutation_p.E123K|PDGFRA_uc003ham.2_RNA	167	GBM-19-2631-TP	p.E229K	G	TAAGTCAGGGGAAACGATTGT	NM_006206	NP_006197	55131142	P16234	PGFRA_HUMAN	0	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		5	1016	+	A	A	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		Missense_Mutation	229			Ig-like C2-type 3.|Extracellular (Potential).			
PDGFRA	0	broad.mit.edu	GRCh37	4	55133888	55133899	+	inframe_deletion	In_Frame_Del	DEL	GGAAAAGATTCA	GGAAAAGATTCA	-			TCGA-26-5134-01	TCGA-26-5134-01	GGAAAAGATTCA	GGAAAAGATTCA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257290.5:c.1106_1117delAGATTCAGGAAA	p.Lys369_Glu372del	p.K369_E372del	ENST00000257290	NM_006206.4	367	gtGGAAAAGATTCAg/gtg	0			1			-	VEKIQ/V	uc003han.3	protein_coding	YES	CCDS3495.1			1101-1112/3270	Mis|O|T		FIP1L1		GIST|idiopathic hypereosinophilic syndrome				soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	c.(1099-1113)GTGGAAAAGATTCAG>GTG			hmmpanther:PTHR24416:SF52,hmmpanther:PTHR24416,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,PIRSF_domain:PIRSF500950,SMART_domains:SM00408,PIRSF_domain:PIRSF000615,Superfamily_domains:SSF48726	platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)			ENSP00000257290		23-Jul										23-Jul	.	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	ENST00000257290	Transcript	1		cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	ENSG00000134853	g.chr4:55133888_55133899delGGAAAAGATTCA	8803	5		MODERATE								--	--	1				TSP Lung(21;0.16)																														PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_In_Frame_Del_p.EKIQ262del|PDGFRA_uc003ham.2_RNA		1			p.EKIQ368del	NM_006206	NP_006197				PGFRA_HUMAN	PDGFRA	HGNC	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		D6RIG5_HUMAN,D6RG11_HUMAN,D6RDX0_HUMAN		7	1432_1443	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		UPI0000131793	368_371			Ig-like C2-type 4.|Extracellular (Potential).		deletion	PDGFRA,inframe_deletion,p.Lys369_Glu372del,ENST00000257290,NM_006206.4;FIP1L1,intron_variant,,ENST00000507166,;PDGFRA,downstream_gene_variant,,ENST00000508170,;PDGFRA,downstream_gene_variant,,ENST00000504461,;PDGFRA,downstream_gene_variant,,ENST00000503856,;PDGFRA,downstream_gene_variant,,ENST00000512522,;PDGFRA,inframe_deletion,p.Lys369_Glu372del,ENST00000509490,;PDGFRA,non_coding_transcript_exon_variant,,ENST00000509092,;	uc003han.3	c.1101_1112delGGAAAAGATTCA	1432-1443/6576	5	5			c.1101_1112delGGAAAAGATTCA	Mis|O|T		FIP1L1		GIST|idiopathic hypereosinophilic syndrome	4	DEL	c.(1099-1113)GTGGAAAAGATTCAG>GTG	3	3			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	Broad	platelet-derived growth factor receptor alpha		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	55133899	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	0.448	ENSG00000134853	11467	g.chr4:55133888_55133899delGGAAAAGATTCA	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	Pancreas(151;208 1913 7310 23853 37092)		1045	Pancreas(151;208 1913 7310 23853 37092)		1045														0.52	1	1	0	1	0	0	0	0	0	--	--	TSP Lung(21;0.16)	0	-			PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_In_Frame_Del_p.EKIQ262del|PDGFRA_uc003ham.2_RNA	183	GBM-26-5134-TP	p.EKIQ368del	GGAAAAGATTCA	CCACTGATGTGGAAAAGATTCAGGAAATAAGG	NM_006206	NP_006197	55133888	P16234	PGFRA_HUMAN	0	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		7	1432_1443	+	-	-	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		In_Frame_Del	368_371			Ig-like C2-type 4.|Extracellular (Potential).			
PDGFRA	0	broad.mit.edu	GRCh37	4	55155241	55155241	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-27-1831-01	TCGA-27-1831-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257290.5:c.2840G>C	p.Ser947Thr	p.S947T	ENST00000257290	NM_006206.4	947	aGt/aCt	0			1			C	S/T	uc003han.3	protein_coding	YES	CCDS3495.1			2840/3270	Mis|O|T		FIP1L1		GIST|idiopathic hypereosinophilic syndrome				soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	c.(2839-2841)AGT>ACT			PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF52,hmmpanther:PTHR24416,Pfam_domain:PF07714,SMART_domains:SM00219,PIRSF_domain:PIRSF500950,PIRSF_domain:PIRSF000615,SMART_domains:SM00220,Superfamily_domains:SSF56112	platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)			ENSP00000257290		21/23									COSM3409363	21/23	.	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	ENST00000257290	Transcript	1		cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	ENSG00000134853	g.chr4:55155241G>C	8803			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=PGFRA_HUMAN&rb=593&re=950&var=S947T	getma.org/pdb.php?prot=PGFRA_HUMAN&from=593&to=950&var=S947T	getma.org/?cm=var&var=hg19,4,55155241,G,C&fts=all	S947T	--	--	1				TSP Lung(21;0.16)																														PDGFRA_uc003haa.2_Missense_Mutation_p.S707T	1	1		possibly_damaging(0.71)	p.S947T	NM_006206	NP_006197		tolerated(0.32)	1	PGFRA_HUMAN	PDGFRA	HGNC	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		D6RIG5_HUMAN,D6RG11_HUMAN,D6RDX0_HUMAN		21	3171	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		UPI0000131793	947			Protein kinase.|Cytoplasmic (Potential).		SNV	PDGFRA,missense_variant,p.Ser947Thr,ENST00000257290,NM_006206.4;FIP1L1,missense_variant,p.Ser707Thr,ENST00000507166,;	uc003han.3	c.2840G>C	3171/6576	3	3			c.2840G>C	Mis|O|T		FIP1L1		GIST|idiopathic hypereosinophilic syndrome	4	SNP	c.(2839-2841)AGT>ACT	6	6			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	Broad	platelet-derived growth factor receptor alpha		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	55155241	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	0.498	ENSG00000134853	11467	g.chr4:55155241G>C	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	Pancreas(151;208 1913 7310 23853 37092)		1045	Pancreas(151;208 1913 7310 23853 37092)		1045	49.071252	KEEP	6	10	-1	25	26	6	10	-1	52.189707	25	26	0.262295	1	0	0	0	0	1	0	0	0	--	--	TSP Lung(21;0.16)	0	C			PDGFRA_uc003haa.2_Missense_Mutation_p.S707T	190	GBM-27-1831-TP	p.S947T	G	TACCACCTGAGTGAGATTGTG	NM_006206	NP_006197	55155241	P16234	PGFRA_HUMAN	0	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		21	3171	+	C	C	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		Missense_Mutation	947			Protein kinase.|Cytoplasmic (Potential).			
PDGFRA	0	broad.mit.edu	GRCh37	4	55131090	55131090	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-76-4929-01	TCGA-76-4929-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257290.5:c.633A>G	p.Thr211=	p.T211=	ENST00000257290	NM_006206.4	211	acA/acG	0			1			G	T	uc003han.3	protein_coding	YES	CCDS3495.1			633/3270	Mis|O|T		FIP1L1		GIST|idiopathic hypereosinophilic syndrome				soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	c.(631-633)ACA>ACG			PROSITE_profiles:PS50835,PIRSF_domain:PIRSF500950,PIRSF_domain:PIRSF000615	platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)			ENSP00000257290		23-May									COSM3409356	23-May	.	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	ENST00000257290	Transcript	1		cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	ENSG00000134853	g.chr4:55131090A>G	8803			LOW								--	--	1				TSP Lung(21;0.16)																														PDGFRA_uc003haa.2_Intron|PDGFRA_uc003hal.2_3'UTR|PDGFRA_uc010igq.1_Silent_p.T105T|PDGFRA_uc003ham.2_RNA	1	1			p.T211T	NM_006206	NP_006197			1	PGFRA_HUMAN	PDGFRA	HGNC	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		D6RIG5_HUMAN,D6RG11_HUMAN,D6RDX0_HUMAN		5	964	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		UPI0000131793	211			Ig-like C2-type 3.|Extracellular (Potential).		SNV	PDGFRA,synonymous_variant,p.=,ENST00000257290,NM_006206.4;PDGFRA,3_prime_UTR_variant,,ENST00000508170,;FIP1L1,intron_variant,,ENST00000507166,;PDGFRA,downstream_gene_variant,,ENST00000504461,;PDGFRA,downstream_gene_variant,,ENST00000503856,;PDGFRA,downstream_gene_variant,,ENST00000512143,;PDGFRA,downstream_gene_variant,,ENST00000512522,;PDGFRA,synonymous_variant,p.=,ENST00000509490,;PDGFRA,non_coding_transcript_exon_variant,,ENST00000509092,;	uc003han.3	c.633A>G	964/6576	3	3			c.633A>G	Mis|O|T		FIP1L1		GIST|idiopathic hypereosinophilic syndrome	4	SNP	c.(631-633)ACA>ACG	52	52			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	Broad	platelet-derived growth factor receptor alpha		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	55131090	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	0.373	ENSG00000134853	11467	g.chr4:55131090A>G	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	Pancreas(151;208 1913 7310 23853 37092)		1045	Pancreas(151;208 1913 7310 23853 37092)		1045	-35.929417	KEEP	6	4	-1	134	134	6	4	-1	17.110025	134	134	0.038961	1	0	0	0	0	0	0	1	0	--	--	TSP Lung(21;0.16)	0	G			PDGFRA_uc003haa.2_Intron|PDGFRA_uc003hal.2_3'UTR|PDGFRA_uc010igq.1_Silent_p.T105T|PDGFRA_uc003ham.2_RNA	269	GBM-76-4929-TP	p.T211T	A	TTATAGCAACATCAGAGCTGG	NM_006206	NP_006197	55131090	P16234	PGFRA_HUMAN	0	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		5	964	+	G	G	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		Silent	211			Ig-like C2-type 3.|Extracellular (Potential).			
PDGFRB	5159	broad.mit.edu	GRCh37	5	149503887	149503887	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01	TCGA-06-0686-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261799.4:c.1949C>T	p.Ser650Leu	p.S650L	ENST00000261799	NM_002609.3	650	tCg/tTg	0			1			A	S/L	uc003lro.2	protein_coding	YES	CCDS4303.1			1949/3321	T		ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML				central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17	c.(1948-1950)TCG>TTG			PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF53,hmmpanther:PTHR24416,Pfam_domain:PF07714,Gene3D:3.30.200.20,SMART_domains:SM00219,PIRSF_domain:PIRSF000615,PIRSF_domain:PIRSF500948,Superfamily_domains:SSF56112	platelet-derived growth factor receptor beta	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)			ENSP00000261799		14/23	1.65E-05			0.000116		1.50E-05			rs758280032,COSM2151585	14/23	.		ENST00000261799	Transcript	1		aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	ENSG00000113721	g.chr5:149503887G>A	8804			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=PGFRB_HUMAN&rb=600&re=958&var=S650L	NA	getma.org/?cm=var&var=hg19,5,149503887,G,A&fts=all	S650L	--	--	1																																		PDGFRB_uc010jhd.2_Missense_Mutation_p.S489L	0,1	1		probably_damaging(1)	p.S650L	NM_002609	NP_002600		deleterious(0)	0,1	PGFRB_HUMAN	PDGFRB	HGNC	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		E5RJ14_HUMAN,E5RII0_HUMAN		14	2418	-		all_hematologic(541;0.224)	UPI0000131791	650			Cytoplasmic (Potential).|Protein kinase.		SNV	PDGFRB,missense_variant,p.Ser650Leu,ENST00000261799,NM_002609.3;PDGFRB,upstream_gene_variant,,ENST00000519575,;PDGFRB,upstream_gene_variant,,ENST00000521723,;PDGFRB,3_prime_UTR_variant,,ENST00000520579,;PDGFRB,non_coding_transcript_exon_variant,,ENST00000520229,;	uc003lro.2	c.1949C>T	2419/5717	2	2			c.1949C>T	T		ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML	5	SNP	c.(1948-1950)TCG>TTG	18	18			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17	Broad	platelet-derived growth factor receptor beta		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	149503887		0.637	ENSG00000113721	11468	g.chr5:149503887G>A	aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			880			880	72.455078	KEEP	14	13	-1	30	16	14	13	-1	73.606551	30	16	0.362319	1	0	0	0	0	1	0	0	0	--	--		0	A			PDGFRB_uc010jhd.2_Missense_Mutation_p.S489L	64	GBM-06-0686-TP	p.S650L	G	CTTCAGCTCCGACATAAGGGC	NM_002609	NP_002600	149503887	P09619	PGFRB_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		14	2418	-	A	A		all_hematologic(541;0.224)	Missense_Mutation	650			Cytoplasmic (Potential).|Protein kinase.			
PDGFRB	5159	broad.mit.edu	GRCh37	5	149497261	149497261	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261799.4:c.3057C>T	p.Asn1019=	p.N1019=	ENST00000261799	NM_002609.3	1019	aaC/aaT	0			1			A	N	uc003lro.2	protein_coding	YES	CCDS4303.1			3057/3321	T		ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML				central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17	c.(3055-3057)AAC>AAT			hmmpanther:PTHR24416:SF53,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000615,PIRSF_domain:PIRSF500948	platelet-derived growth factor receptor beta	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)			ENSP00000261799		22/23									rs769027565,COSM205989	22/23	.		ENST00000261799	Transcript	1		aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	ENSG00000113721	g.chr5:149497261G>A	8804			LOW								--	--	1																																		PDGFRB_uc010jhd.2_Silent_p.N858N	0,1	1			p.N1019N	NM_002609	NP_002600			0,1	PGFRB_HUMAN	PDGFRB	HGNC	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		E5RJ14_HUMAN,E5RII0_HUMAN		22	3526	-		all_hematologic(541;0.224)	UPI0000131791	1019			Cytoplasmic (Potential).		SNV	PDGFRB,synonymous_variant,p.=,ENST00000261799,NM_002609.3;CSF1R,upstream_gene_variant,,ENST00000286301,NM_005211.3,NM_001288705.1;CSF1R,upstream_gene_variant,,ENST00000511344,;PDGFRB,downstream_gene_variant,,ENST00000519575,;PDGFRB,upstream_gene_variant,,ENST00000520851,;PDGFRB,downstream_gene_variant,,ENST00000521723,;PDGFRB,3_prime_UTR_variant,,ENST00000520579,;	uc003lro.2	c.3057C>T	3527/5717	2	2			c.3057C>T	T		ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML	5	SNP	c.(3055-3057)AAC>AAT	43	43			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17	Broad	platelet-derived growth factor receptor beta		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	149497261		0.642	ENSG00000113721	11468	g.chr5:149497261G>A	aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			880			880	-12.079215	KEEP	7	3	-1	59	77	7	3	-1	14.383212	59	77	0.055118	1	0	0	0	0	0	0	1	0	--	--		0	A			PDGFRB_uc010jhd.2_Silent_p.N858N	102	GBM-06-5858-TP	p.N1019N	G	TGATATAGTCGTTGTCACCCT	NM_002609	NP_002600	149497261	P09619	PGFRB_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		22	3526	-	A	A		all_hematologic(541;0.224)	Silent	1019			Cytoplasmic (Potential).			
PDGFRB	0	broad.mit.edu	GRCh37	5	149503887	149503887	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5220-01	TCGA-28-5220-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261799.4:c.1949C>T	p.Ser650Leu	p.S650L	ENST00000261799	NM_002609.3	650	tCg/tTg	0			1			A	S/L	uc003lro.2	protein_coding	YES	CCDS4303.1			1949/3321	T		ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML				central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17	c.(1948-1950)TCG>TTG			PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF53,hmmpanther:PTHR24416,Pfam_domain:PF07714,Gene3D:3.30.200.20,SMART_domains:SM00219,PIRSF_domain:PIRSF000615,PIRSF_domain:PIRSF500948,Superfamily_domains:SSF56112	platelet-derived growth factor receptor beta	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)			ENSP00000261799		14/23	1.65E-05			0.000116		1.50E-05			rs758280032,COSM2151585	14/23	.		ENST00000261799	Transcript	1		aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	ENSG00000113721	g.chr5:149503887G>A	8804			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=PGFRB_HUMAN&rb=600&re=958&var=S650L	NA	getma.org/?cm=var&var=hg19,5,149503887,G,A&fts=all	S650L	--	--	1																																		PDGFRB_uc010jhd.2_Missense_Mutation_p.S489L	0,1	1		probably_damaging(1)	p.S650L	NM_002609	NP_002600		deleterious(0)	0,1	PGFRB_HUMAN	PDGFRB	HGNC	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		E5RJ14_HUMAN,E5RII0_HUMAN		14	2418	-		all_hematologic(541;0.224)	UPI0000131791	650			Cytoplasmic (Potential).|Protein kinase.		SNV	PDGFRB,missense_variant,p.Ser650Leu,ENST00000261799,NM_002609.3;PDGFRB,upstream_gene_variant,,ENST00000519575,;PDGFRB,upstream_gene_variant,,ENST00000521723,;PDGFRB,3_prime_UTR_variant,,ENST00000520579,;PDGFRB,non_coding_transcript_exon_variant,,ENST00000520229,;	uc003lro.2	c.1949C>T	2419/5717	2	2			c.1949C>T	T		ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML	5	SNP	c.(1948-1950)TCG>TTG	18	18			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17	Broad	platelet-derived growth factor receptor beta		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	149503887		0.637	ENSG00000113721	11468	g.chr5:149503887G>A	aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			880			880	119.562267	KEEP	28	21	-1	37	36	28	21	-1	120.579353	37	36	0.396226	1	0	0	0	0	1	0	0	0	--	--		0	A			PDGFRB_uc010jhd.2_Missense_Mutation_p.S489L	226	GBM-28-5220-TP	p.S650L	G	CTTCAGCTCCGACATAAGGGC	NM_002609	NP_002600	149503887	P09619	PGFRB_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		14	2418	-	A	A		all_hematologic(541;0.224)	Missense_Mutation	650			Cytoplasmic (Potential).|Protein kinase.			
PDGFRB	0	broad.mit.edu	GRCh37	5	149501489	149501489	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-74-6573-01	TCGA-74-6573-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261799.4:c.2298C>A	p.Ile766=	p.I766=	ENST00000261799	NM_002609.3	766	atC/atA	0			1			T	I	uc003lro.2	protein_coding	YES	CCDS4303.1			2298/3321	T		ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML				central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17	c.(2296-2298)ATC>ATA			PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF53,hmmpanther:PTHR24416,Pfam_domain:PF07714,SMART_domains:SM00219,PIRSF_domain:PIRSF000615,PIRSF_domain:PIRSF500948	platelet-derived growth factor receptor beta	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)			ENSP00000261799		16/23									COSM3410000	16/23	.		ENST00000261799	Transcript	1		aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	ENSG00000113721	g.chr5:149501489G>T	8804			LOW								--	--	1																																		PDGFRB_uc010jhd.2_Silent_p.I605I	1	1			p.I766I	NM_002609	NP_002600			1	PGFRB_HUMAN	PDGFRB	HGNC	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		E5RJ14_HUMAN,E5RII0_HUMAN		16	2767	-		all_hematologic(541;0.224)	UPI0000131791	766			Cytoplasmic (Potential).|Protein kinase.		SNV	PDGFRB,synonymous_variant,p.=,ENST00000261799,NM_002609.3;PDGFRB,non_coding_transcript_exon_variant,,ENST00000519575,;PDGFRB,non_coding_transcript_exon_variant,,ENST00000521723,;PDGFRB,3_prime_UTR_variant,,ENST00000520579,;PDGFRB,downstream_gene_variant,,ENST00000520229,;	uc003lro.2	c.2298C>A	2768/5717	1	1			c.2298C>A	T		ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML	5	SNP	c.(2296-2298)ATC>ATA	9	9			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17	Broad	platelet-derived growth factor receptor beta		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	149501489		0.532	ENSG00000113721	11468	g.chr5:149501489G>T	aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			880			880	30.369733	KEEP	10	7	0.588235294	43	38	10	7	0.588235294	39.409873	43	38	0.170455	1	0	0	0	0	0	0	1	0	--	--		0	T			PDGFRB_uc010jhd.2_Silent_p.I605I	260	GBM-74-6573-TP	p.I766I	G	TGGAGGACTCGATGTCTGCAT	NM_002609	NP_002600	149501489	P09619	PGFRB_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		16	2767	-	T	T		all_hematologic(541;0.224)	Silent	766			Cytoplasmic (Potential).|Protein kinase.			
PDGFRB	5159		GRCh37	5	149504343	149504343	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000261799.4:c.1859A>T	p.His620Leu	p.H620L	ENST00000261799	NM_002609.3	620	cAt/cTt	0																																																																																																																																																																																																																																												
PDHA1	0	broad.mit.edu	GRCh37	X	19369427	19369427	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01	TCGA-19-2625-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000422285.2:c.320G>A	p.Gly107Asp	p.G107D	ENST00000422285		107	gGc/gAc	0			1			A	G/D	uc004czg.3	protein_coding		CCDS14192.1			320/1173									ovary(1)	1	c.(319-321)GGC>GAC			Gene3D:3.40.50.970,Pfam_domain:PF00676,hmmpanther:PTHR11516,hmmpanther:PTHR11516:SF28,Superfamily_domains:SSF52518,TIGRFAM_domain:TIGR03182	pyruvate dehydrogenase E1 alpha 1 precursor	NADH(DB00157)			ENSP00000394382		11-Apr									COSM3406216,COSM3406217,COSM3406214,COSM3406215	11-Apr	.		ENST00000422285	Transcript	1		glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	ENSG00000131828	g.chrX:19369427G>A	8806			MODERATE		1.575	low	getma.org/?cm=msa&ty=f&p=ODPA_HUMAN&rb=66&re=362&var=G107D	getma.org/pdb.php?prot=ODPA_HUMAN&from=66&to=362&var=G107D	getma.org/?cm=var&var=hg19,X,19369427,G,A&fts=all	G107D	--	--	1																																		PDHA1_uc004czh.3_Missense_Mutation_p.G142D|PDHA1_uc011mjc.1_Missense_Mutation_p.G111D|PDHA1_uc011mjd.1_Missense_Mutation_p.G104D|PDHA1_uc010nfk.2_Missense_Mutation_p.G104D	1,1,1,1			probably_damaging(0.951)	p.G107D	NM_000284	NP_000275		deleterious(0)	1,1,1,1	ODPA_HUMAN	PDHA1	HGNC	P08559	ODPA_HUMAN			Q9UNV7_HUMAN,Q6LCA3_HUMAN,Q5JPU3_HUMAN,A5YPB6_HUMAN		4	465	+	Hepatocellular(33;0.183)		UPI0000130C10	107					SNV	PDHA1,missense_variant,p.Gly145Asp,ENST00000379806,NM_001173454.1;PDHA1,missense_variant,p.Gly114Asp,ENST00000545074,NM_000284.3,NM_001173455.1;PDHA1,missense_variant,p.Gly107Asp,ENST00000422285,;PDHA1,missense_variant,p.Gly107Asp,ENST00000540249,NM_001173456.1;PDHA1,missense_variant,p.Gly107Asp,ENST00000379805,;PDHA1,missense_variant,p.Gly145Asp,ENST00000423505,;PDHA1,missense_variant,p.Gly114Asp,ENST00000355808,;PDHA1,upstream_gene_variant,,ENST00000379804,;PDHA1,downstream_gene_variant,,ENST00000417819,;PDHA1,non_coding_transcript_exon_variant,,ENST00000492364,;PDHA1,upstream_gene_variant,,ENST00000479146,;PDHA1,upstream_gene_variant,,ENST00000481733,;	uc004czg.3	c.320G>A	425/3310	2	2			c.320G>A						23	SNP	c.(319-321)GGC>GAC	45	45			ovary(1)	1	Broad	pyruvate dehydrogenase E1 alpha 1 precursor		NADH(DB00157)	19369427		0.507	ENSG00000131828	11470	g.chrX:19369427G>A	glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity							-54.813557	KEEP	1	3	-1	143	106	1	3	-1	6.540176	143	106	0.017167	1	0	0	0	0	1	0	0	0	--	--		0	A			PDHA1_uc004czh.3_Missense_Mutation_p.G142D|PDHA1_uc011mjc.1_Missense_Mutation_p.G111D|PDHA1_uc011mjd.1_Missense_Mutation_p.G104D|PDHA1_uc010nfk.2_Missense_Mutation_p.G104D	165	GBM-19-2625-TP	p.G107D	G	CTGGAGGCCGGCATCAACCCC	NM_000284	NP_000275	19369427	P08559	ODPA_HUMAN	0			4	465	+	A	A	Hepatocellular(33;0.183)		Missense_Mutation	107						
PDHA2	5161	broad.mit.edu	GRCh37	4	96761886	96761886	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295266.4:c.585C>T	p.Gly195=	p.G195=	ENST00000295266	NM_005390.4	195	ggC/ggT	0		T:0	1	T:0		T	G	uc003htr.3	protein_coding	YES	CCDS3644.1			585/1167									central_nervous_system(1)	1	c.(583-585)GGC>GGT			hmmpanther:PTHR11516,hmmpanther:PTHR11516:SF27,Pfam_domain:PF00676,Gene3D:3.40.50.970,TIGRFAM_domain:TIGR03182,Superfamily_domains:SSF52518	pyruvate dehydrogenase E1 alpha 2 precursor	NADH(DB00157)	T:0.001		ENSP00000295266	T:0	1-Jan	1.65E-05			0.000116		1.50E-05			rs550687466,COSM2149082	1-Jan	.		ENST00000295266	Transcript		T:0.0002	glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	ENSG00000163114	g.chr4:96761886C>T	8807			LOW								--	--	1																																			0,1	1			p.G195G	NM_005390	NP_005381	T:0		0,1	ODPAT_HUMAN	PDHA2	HGNC	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)			1	648	+		Hepatocellular(203;0.114)	UPI0000130C31	195					SNV	PDHA2,synonymous_variant,p.=,ENST00000295266,NM_005390.4;	uc003htr.3	c.585C>T	648/1387	1	1			c.585C>T						4	SNP	c.(583-585)GGC>GGT	10	10			central_nervous_system(1)	1	Broad	pyruvate dehydrogenase E1 alpha 2 precursor		NADH(DB00157)	96761886		0.473	ENSG00000163114	11471	g.chr4:96761886C>T	glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity							99.696457	KEEP	21	19	-1	42	44	21	19	-1	102.718973	42	44	0.324324	1	0	0	0	0	0	0	1	0	--	--		0	T				5	GBM-02-2470-TP	p.G195G	C	ATGGGGATGGCGCTGCGAATC	NM_005390	NP_005381	96761886	P29803	ODPAT_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	648	+	T	T		Hepatocellular(203;0.114)	Silent	195						
PDHA2	5161	broad.mit.edu	GRCh37	4	96761557	96761557	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01	TCGA-06-2558-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295266.4:c.256C>T	p.Arg86Cys	p.R86C	ENST00000295266	NM_005390.4	86	Cgc/Tgc	0			1			T	R/C	uc003htr.3	protein_coding	YES	CCDS3644.1			256/1167									central_nervous_system(1)	1	c.(256-258)CGC>TGC			hmmpanther:PTHR11516,hmmpanther:PTHR11516:SF27,Pfam_domain:PF00676,Gene3D:3.40.50.970,TIGRFAM_domain:TIGR03182,Superfamily_domains:SSF52518	pyruvate dehydrogenase E1 alpha 2 precursor	NADH(DB00157)			ENSP00000295266		1-Jan									COSM198949	1-Jan	.		ENST00000295266	Transcript			glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	ENSG00000163114	g.chr4:96761557C>T	8807			MODERATE		3.28	medium	getma.org/?cm=msa&ty=f&p=ODPAT_HUMAN&rb=63&re=360&var=R86C	getma.org/pdb.php?prot=ODPAT_HUMAN&from=63&to=360&var=R86C	getma.org/?cm=var&var=hg19,4,96761557,C,T&fts=all	R86C	--	--	1																																			1	1		probably_damaging(0.994)	p.R86C	NM_005390	NP_005381		deleterious(0)	1	ODPAT_HUMAN	PDHA2	HGNC	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)			1	319	+		Hepatocellular(203;0.114)	UPI0000130C31	86					SNV	PDHA2,missense_variant,p.Arg86Cys,ENST00000295266,NM_005390.4;	uc003htr.3	c.256C>T	319/1387	1	1			c.256C>T						4	SNP	c.(256-258)CGC>TGC	8	8			central_nervous_system(1)	1	Broad	pyruvate dehydrogenase E1 alpha 2 precursor		NADH(DB00157)	96761557		0.517	ENSG00000163114	11471	g.chr4:96761557C>T	glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity							-40.064717	KEEP	3	1	-1	97	96	3	1	-1	6.376638	97	96	0.021978	1	0	0	0	0	1	0	0	0	--	--		0	T				82	GBM-06-2558-TP	p.R86C	C	GAAATTCATTCGCGGTTTCTG	NM_005390	NP_005381	96761557	P29803	ODPAT_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	319	+	T	T		Hepatocellular(203;0.114)	Missense_Mutation	86						
PDHA2	0	broad.mit.edu	GRCh37	4	96761326	96761326	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0688-01	TCGA-12-0688-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295266.4:c.25G>A	p.Val9Met	p.V9M	ENST00000295266	NM_005390.4	9	Gtg/Atg	0		A:0	1	A:0		A	V/M	uc003htr.3	protein_coding	YES	CCDS3644.1			25/1167									central_nervous_system(1)	1	c.(25-27)GTG>ATG			hmmpanther:PTHR11516,hmmpanther:PTHR11516:SF27	pyruvate dehydrogenase E1 alpha 2 precursor	NADH(DB00157)	A:0		ENSP00000295266	A:0	1-Jan	4.94E-05					1.55E-05		0.000286	rs550119402,COSM1431896	1-Jan	.		ENST00000295266	Transcript		A:0.0002	glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	ENSG00000163114	g.chr4:96761326G>A	8807			MODERATE		2	medium	getma.org/?cm=msa&ty=f&p=ODPAT_HUMAN&rb=1&re=62&var=V9M	NA	getma.org/?cm=var&var=hg19,4,96761326,G,A&fts=all	V9M	--	--	1																																			0,1	1		benign(0.086)	p.V9M	NM_005390	NP_005381	A:0.001	tolerated(0.12)	0,1	ODPAT_HUMAN	PDHA2	HGNC	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)			1	88	+		Hepatocellular(203;0.114)	UPI0000130C31	9					SNV	PDHA2,missense_variant,p.Val9Met,ENST00000295266,NM_005390.4;	uc003htr.3	c.25G>A	88/1387	1	1			c.25G>A						4	SNP	c.(25-27)GTG>ATG	55	55			central_nervous_system(1)	1	Broad	pyruvate dehydrogenase E1 alpha 2 precursor		NADH(DB00157)	96761326		0.557	ENSG00000163114	11471	g.chr4:96761326G>A	glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity							83.688047	KEEP	19	13	-1	12	24	19	13	-1	83.703153	12	24	0.482759	1	0	0	0	0	1	0	0	0	--	--		0	A				121	GBM-12-0688-TP	p.V9M	G	CATCTCCCGCGTGTTGAGGCG	NM_005390	NP_005381	96761326	P29803	ODPAT_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	88	+	A	A		Hepatocellular(203;0.114)	Missense_Mutation	9						
PDIA3	0	broad.mit.edu	GRCh37	15	44055362	44055362	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01	TCGA-14-4157-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300289.5:c.560C>T	p.Thr187Met	p.T187M	ENST00000300289	NM_005313.4	187	aCg/aTg	0			1			T	T/M	uc001zsu.2	protein_coding	YES	CCDS10101.1			560/1518									ovary(1)|skin(1)	2	c.(559-561)ACG>ATG			hmmpanther:PTHR18929,hmmpanther:PTHR18929:SF60,Pfam_domain:PF13848,Gene3D:3.40.30.10,TIGRFAM_domain:TIGR01130,Superfamily_domains:SSF52833	protein disulfide-isomerase A3 precursor				ENSP00000300289		13-May									COSM3401752	13-May	.		ENST00000300289	Transcript			cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	ENSG00000167004	g.chr15:44055362C>T	4606			MODERATE		2.545	medium	getma.org/?cm=msa&ty=f&p=PDIA3_HUMAN&rb=160&re=355&var=T187M	getma.org/pdb.php?prot=PDIA3_HUMAN&from=160&to=355&var=T187M	getma.org/?cm=var&var=hg19,15,44055362,C,T&fts=all	T187M	--	--	1																																		PDIA3_uc010bdp.2_Missense_Mutation_p.T167M|PDIA3_uc010ued.1_Translation_Start_Site	1	1		probably_damaging(0.999)	p.T187M	NM_005313	NP_005304		deleterious(0)	1	PDIA3_HUMAN	PDIA3	HGNC	P30101	PDIA3_HUMAN		GBM - Glioblastoma multiforme(94;9.48e-07)			5	708	+		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	UPI0000052A4F	187					SNV	PDIA3,missense_variant,p.Thr187Met,ENST00000300289,NM_005313.4;PDIA3,missense_variant,p.Thr167Met,ENST00000538521,;PDIA3,3_prime_UTR_variant,,ENST00000434494,;PDIA3,intron_variant,,ENST00000455250,;	uc001zsu.2	c.560C>T	708/3727	2	2			c.560C>T						15	SNP	c.(559-561)ACG>ATG	34	34			ovary(1)|skin(1)	2	Broad	protein disulfide-isomerase A3 precursor			44055362		0.408	ENSG00000167004	11475	g.chr15:44055362C>T	cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity							432.922068	KEEP	68	90	-1	84	102	68	90	-1	433.13129	84	102	0.471761	1	0	0	0	0	1	0	0	0	--	--		0	T			PDIA3_uc010bdp.2_Missense_Mutation_p.T167M|PDIA3_uc010ued.1_Translation_Start_Site	152	GBM-14-4157-TP	p.T187M	C	TTTGCACATACGAATGTTGAG	NM_005313	NP_005304	44055362	P30101	PDIA3_HUMAN	0		GBM - Glioblastoma multiforme(94;9.48e-07)	5	708	+	T	T		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	Missense_Mutation	187						
PDIA4	9601	broad.mit.edu	GRCh37	7	148703125	148703125	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-02-0033-01	TCGA-02-0033-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286091.4:c.1152C>T	p.Ala384=	p.A384=	ENST00000286091	NM_004911.4	384	gcC/gcT	0			1			A	A	uc003wff.2	protein_coding	YES	CCDS5893.1			1152/1938									lung(5)|ovary(1)	6	c.(1150-1152)GCC>GCT			Gene3D:3.40.30.10,Pfam_domain:PF13848,PIRSF_domain:PIRSF036862,hmmpanther:PTHR18929,hmmpanther:PTHR18929:SF56,Superfamily_domains:SSF52833,TIGRFAM_domain:TIGR01130	protein disulfide isomerase A4 precursor				ENSP00000286091		10-Aug									COSM3411771	10-Aug	.		ENST00000286091	Transcript			cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	ENSG00000155660	g.chr7:148703125G>A	30167			LOW								--	--	1																																OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1	1			p.A384A	NM_004911	NP_004902			1	PDIA4_HUMAN	PDIA4	HGNC	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)				8	1434	-	Melanoma(164;0.15)		UPI000004062C	384					SNV	PDIA4,synonymous_variant,p.=,ENST00000286091,NM_004911.4;PDIA4,non_coding_transcript_exon_variant,,ENST00000466592,;	uc003wff.2	c.1152C>T	1385/2903	2	2			c.1152C>T						7	SNP	c.(1150-1152)GCC>GCT	25	25			lung(5)|ovary(1)	6	Broad	protein disulfide isomerase A4 precursor			148703125		0.592	ENSG00000155660	11476	g.chr7:148703125G>A	cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity							13.523523	KEEP	5	7	-1	29	35	5	7	-1	21.985436	29	35	0.136364	1	0	0	0	0	0	0	1	0	--	--		0	A	OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		2	GBM-02-0033-TP	p.A384A	G	AGTCCTTGATGGCCGAGTCCT	NM_004911	NP_004902	148703125	P13667	PDIA4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		8	1434	-	A	A	Melanoma(164;0.15)		Silent	384						
PDILT	0	broad.mit.edu	GRCh37	16	20370700	20370702	+	inframe_deletion	In_Frame_Del	DEL	CCA	CCA	-			TCGA-12-0618-01	TCGA-12-0618-01	CCA	CCA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302451.4:c.1694_1696delTGG	p.Val565del	p.V565del	ENST00000302451	NM_174924.1	565	gTGGct/gct	0			1			-	VA/A	uc002dhc.1	protein_coding	YES	CCDS10584.1			1694-1696/1755									large_intestine(1)	1	c.(1693-1698)GTGGCT>GCT			Low_complexity_(Seg):seg	protein disulfide isomerase-like, testis				ENSP00000305465		12-Dec	3.29E-05		0.000259			1.50E-05			rs778623695	12-Dec	.		ENST00000302451	Transcript			cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	ENSG00000169340	g.chr16:20370700_20370702delCCA	27338			MODERATE								--	--	1																																				1			p.V565del	NM_174924	NP_777584				PDILT_HUMAN	PDILT	HGNC	Q8N807	PDILT_HUMAN					12	1917_1919	-			UPI000000DAC6	565					deletion	PDILT,inframe_deletion,p.Val565del,ENST00000302451,NM_174924.1;UMOD,upstream_gene_variant,,ENST00000570689,;	uc002dhc.1	c.1694_1696delTGG	1943-1945/2153	5	5			c.1694_1696delTGG						16	DEL	c.(1693-1698)GTGGCT>GCT	2	2			large_intestine(1)	1	Broad	protein disulfide isomerase-like, testis			20370702		0.478	ENSG00000169340	11480	g.chr16:20370700_20370702delCCA	cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity																				0.01	1	1	0	1	0	0	0	0	0	--	--		0	-				119	GBM-12-0618-TP	p.V565del	CCA	TTTGGCTTAGCCACCACCACCAC	NM_174924	NP_777584	20370700	Q8N807	PDILT_HUMAN	0			12	1917_1919	-	-	-			In_Frame_Del	565						
PDILT	0	broad.mit.edu	GRCh37	16	20376785	20376785	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-4719-01	TCGA-32-4719-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302451.4:c.1194C>T	p.Asn398=	p.N398=	ENST00000302451	NM_174924.1	398	aaC/aaT	0			1			A	N	uc002dhc.1	protein_coding	YES	CCDS10584.1			1194/1755									large_intestine(1)	1	c.(1192-1194)AAC>AAT			PROSITE_profiles:PS51352,hmmpanther:PTHR18929:SF58,hmmpanther:PTHR18929,Pfam_domain:PF00085,Gene3D:3.40.30.10,Superfamily_domains:SSF52833	protein disulfide isomerase-like, testis				ENSP00000305465		12-Sep	4.12E-05					3.00E-05		0.000182	rs755292330,COSM2157420	12-Sep	.		ENST00000302451	Transcript			cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	ENSG00000169340	g.chr16:20376785G>A	27338			LOW								--	--	1																																			0,1	1			p.N398N	NM_174924	NP_777584			0,1	PDILT_HUMAN	PDILT	HGNC	Q8N807	PDILT_HUMAN					9	1417	-			UPI000000DAC6	398			Thioredoxin.		SNV	PDILT,synonymous_variant,p.=,ENST00000302451,NM_174924.1;	uc002dhc.1	c.1194C>T	1443/2153	2	2			c.1194C>T						16	SNP	c.(1192-1194)AAC>AAT	34	34			large_intestine(1)	1	Broad	protein disulfide isomerase-like, testis			20376785		0.448	ENSG00000169340	11480	g.chr16:20376785G>A	cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity							393.515132	KEEP	64	78	-1	64	110	64	78	-1	394.233571	64	110	0.446735	1	0	0	0	0	0	0	1	0	--	--		0	A				248	GBM-32-4719-TP	p.N398N	G	AGACGACTACGTTGAAGTTCT	NM_174924	NP_777584	20376785	Q8N807	PDILT_HUMAN	0			9	1417	-	A	A			Silent	398			Thioredoxin.			
PDK4	5166	broad.mit.edu	GRCh37	7	95216404	95216404	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000005178.5:c.1013G>A	p.Arg338His	p.R338H	ENST00000005178	NM_002612.3	338	cGt/cAt	0		T:0	1	T:0.0029		T	R/H	uc003uoa.2	protein_coding	YES	CCDS5643.1			1013/1236										0	c.(1012-1014)CGT>CAT			Gene3D:3.30.565.10,Pfam_domain:PF02518,PROSITE_profiles:PS50109,hmmpanther:PTHR11947,hmmpanther:PTHR11947:SF17,SMART_domains:SM00387,Superfamily_domains:SSF55874	pyruvate dehydrogenase kinase 4 precursor		T:0		ENSP00000005178	T:0	11-Oct	4.12E-05	9.78E-05	0.000177			1.52E-05		6.11E-05	rs530118760	11-Oct	.		ENST00000005178	Transcript		T:0.0004	glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	ENSG00000004799	g.chr7:95216404C>T	8812			MODERATE		3.01	medium	getma.org/?cm=msa&ty=f&p=PDK4_HUMAN&rb=243&re=367&var=R338H	getma.org/pdb.php?prot=PDK4_HUMAN&from=243&to=367&var=R338H	getma.org/?cm=var&var=hg19,7,95216404,C,T&fts=all	R338H	--	--	1																																		PDK4_uc003unz.2_Missense_Mutation_p.R126H		1		probably_damaging(0.997)	p.R338H	NM_002612	NP_002603	T:0	deleterious(0.02)		PDK4_HUMAN	PDK4	HGNC	Q16654	PDK4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		B3KUX1_HUMAN,B3KU25_HUMAN,A4D1H4_HUMAN		10	1333	-	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		UPI000000D984	338			Histidine kinase.		SNV	PDK4,missense_variant,p.Arg338His,ENST00000005178,NM_002612.3;PDK4,non_coding_transcript_exon_variant,,ENST00000473796,;PDK4,non_coding_transcript_exon_variant,,ENST00000468445,;PDK4,downstream_gene_variant,,ENST00000498190,;	uc003uoa.2	c.1013G>A	1211/3576	1	1			c.1013G>A						7	SNP	c.(1012-1014)CGT>CAT	5	5				0	Broad	pyruvate dehydrogenase kinase 4 precursor			95216404		0.378	ENSG00000004799	11484	g.chr7:95216404C>T	glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			1033			1033	8.919544	KEEP	5	3	-1	22	16	5	3	-1	14.085753	22	16	0.142857	1	0	0	0	0	1	0	0	0	--	--		0	T			PDK4_uc003unz.2_Missense_Mutation_p.R126H	23	GBM-06-0145-TP	p.R338H	C	TGCATACAGACGAGAAATTGG	NM_002612	NP_002603	95216404	Q16654	PDK4_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.0151)		10	1333	-	T	T	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		Missense_Mutation	338			Histidine kinase.			
PDLIM1	0	broad.mit.edu	GRCh37	10	96998437	96998437	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329399.6:c.691C>G	p.Pro231Ala	p.P231A	ENST00000329399	NM_020992.3	231	Ccc/Gcc	0			1			C	P/A	uc001kkh.2	protein_coding	YES	CCDS7441.1			691/990										0	c.(691-693)CCC>GCC			hmmpanther:PTHR24214:SF5,hmmpanther:PTHR24214	PDZ and LIM domain 1				ENSP00000360305		7-Jun									COSM3397327	7-Jun	.		ENST00000329399	Transcript			response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding	ENSG00000107438	g.chr10:96998437G>C	2067			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=PDLI1_HUMAN&rb=83&re=259&var=P231A	NA	getma.org/?cm=var&var=hg19,10,96998437,G,C&fts=all	P231A	--	--	1																																		PDLIM1_uc001kki.2_Missense_Mutation_p.P231A|PDLIM1_uc009xuv.2_Intron|PDLIM1_uc001kkj.1_Missense_Mutation_p.P231A	1	1		benign(0.019)	p.P231A	NM_020992	NP_066272		tolerated(0.09)	1	PDLI1_HUMAN	PDLIM1	HGNC	O00151	PDLI1_HUMAN		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)			6	800	-		Colorectal(252;0.083)	UPI00001314CB	231					SNV	PDLIM1,missense_variant,p.Pro231Ala,ENST00000329399,NM_020992.3;PDLIM1,non_coding_transcript_exon_variant,,ENST00000477757,;PDLIM1,non_coding_transcript_exon_variant,,ENST00000490391,;PDLIM1,non_coding_transcript_exon_variant,,ENST00000492511,;	uc001kkh.2	c.691C>G	800/1452	3	3			c.691C>G						10	SNP	c.(691-693)CCC>GCC	7	7				0	Broad	PDZ and LIM domain 1			96998437		0.443	ENSG00000107438	11485	g.chr10:96998437G>C	response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding							2.146224	KEEP	0	2	-1	13	11	0	2	-1	6.629361	13	11	0.08	1	0	0	0	0	1	0	0	0	--	--		0	C			PDLIM1_uc001kki.2_Missense_Mutation_p.P231A|PDLIM1_uc009xuv.2_Intron|PDLIM1_uc001kkj.1_Missense_Mutation_p.P231A	160	GBM-19-1790-TP	p.P231A	G	GGCTTGTTGGGATCCCCTGAA	NM_020992	NP_066272	96998437	O00151	PDLI1_HUMAN	0		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)	6	800	-	C	C		Colorectal(252;0.083)	Missense_Mutation	231						
PDLIM4	8572		GRCh37	5	131607724	131607724	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000253754.3:c.795C>G	p.Thr265=	p.T265=	ENST00000253754	NM_003687.3	265	acC/acG	0																																																																																																																																																																																																																																												
PDP2	57546	broad.mit.edu	GRCh37	16	66918530	66918530	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01	TCGA-06-2562-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311765.2:c.343G>A	p.Ala115Thr	p.A115T	ENST00000311765	NM_020786.2	115	Gct/Act	0			1			A	A/T	uc002eqk.1	protein_coding	YES	CCDS10822.1			343/1590									ovary(1)	1	c.(343-345)GCT>ACT			Gene3D:3.60.40.10,hmmpanther:PTHR13832,hmmpanther:PTHR13832:SF255,SMART_domains:SM00332	pyruvate dehydrogenase phosphatase isoenzyme 2				ENSP00000309548		2-Feb									COSM2152762	2-Feb	.		ENST00000311765	Transcript			pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding	ENSG00000172840	g.chr16:66918530G>A	30263			MODERATE		2.505	medium	getma.org/?cm=msa&ty=f&p=PDP2_HUMAN&rb=1&re=198&var=A115T	getma.org/pdb.php?prot=PDP2_HUMAN&from=1&to=198&var=A115T	getma.org/?cm=var&var=hg19,16,66918530,G,A&fts=all	A115T	--	--	1																																			1	1		probably_damaging(0.971)	p.A115T	NM_020786	NP_065837		deleterious(0.02)	1	PDP2_HUMAN	PDP2	HGNC	Q9P2J9	PDP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	H3BV50_HUMAN,H3BTU5_HUMAN,H3BSA5_HUMAN,H3BRB7_HUMAN,H3BQX2_HUMAN		2	505	+		Ovarian(137;0.0563)	UPI0000044254	115					SNV	PDP2,missense_variant,p.Ala115Thr,ENST00000311765,NM_020786.2;PDP2,missense_variant,p.Ala115Thr,ENST00000566776,;PDP2,missense_variant,p.Ala115Thr,ENST00000568869,;PDP2,missense_variant,p.Ala115Thr,ENST00000566543,;PDP2,downstream_gene_variant,,ENST00000561704,;PDP2,downstream_gene_variant,,ENST00000568398,;RP11-61A14.3,upstream_gene_variant,,ENST00000563086,;RP11-61A14.2,upstream_gene_variant,,ENST00000561475,;RP11-61A14.3,upstream_gene_variant,,ENST00000561811,;PDP2,intron_variant,,ENST00000568720,;PDP2,intron_variant,,ENST00000566805,;	uc002eqk.1	c.343G>A	677/4002	1	1			c.343G>A						16	SNP	c.(343-345)GCT>ACT	57	57			ovary(1)	1	Broad	pyruvate dehydrogenase phosphatase isoenzyme 2			66918530		0.522	ENSG00000172840	11492	g.chr16:66918530G>A	pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding							180.922475	KEEP	32	33	-1	44	48	32	33	-1	181.519303	44	48	0.429577	1	0	0	0	0	1	0	0	0	--	--		0	A				85	GBM-06-2562-TP	p.A115T	G	CAACCAGCTGGCTGCCAATTC	NM_020786	NP_065837	66918530	Q9P2J9	PDP2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	2	505	+	A	A		Ovarian(137;0.0563)	Missense_Mutation	115						
PDPR	55066	broad.mit.edu	GRCh37	16	70190589	70190589	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0646-01	TCGA-06-0646-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288050.4:c.2447T>G	p.Phe816Cys	p.F816C	ENST00000288050	NM_017990.3	816	tTt/tGt	0			1			G	F/C	uc002eyf.1	protein_coding	YES	CCDS45520.1			2447/2640									breast(1)	1	c.(2446-2448)TTT>TGT			Gene3D:2.40.30.110,Pfam_domain:PF08669,Superfamily_domains:SSF101790	pyruvate dehydrogenase phosphatase regulatory				ENSP00000288050		19/19									COSM3402444	19/19	.		ENST00000288050	Transcript			glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	ENSG00000090857	g.chr16:70190589T>G	30264			MODERATE		2.785	medium	getma.org/?cm=msa&ty=f&p=PDPR_HUMAN&rb=747&re=855&var=F816C	getma.org/pdb.php?prot=PDPR_HUMAN&from=747&to=855&var=F816C	getma.org/?cm=var&var=hg19,16,70190589,T,G&fts=all	F816C	--	--	1																																		CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.F716C|PDPR_uc002eyg.1_Missense_Mutation_p.F483C|PDPR_uc002eyh.2_Missense_Mutation_p.F161C|PDPR_uc010vls.1_Missense_Mutation_p.F161C	1	1		possibly_damaging(0.843)	p.F816C	NM_017990	NP_060460		deleterious(0)	1	PDPR_HUMAN	PDPR	HGNC	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	H3BV59_HUMAN,H3BU60_HUMAN,B7ZAR9_HUMAN,B3KSE1_HUMAN,A8MT40_HUMAN		19	3404	+			UPI00001FF513	816					SNV	PDPR,missense_variant,p.Phe816Cys,ENST00000288050,NM_017990.3;PDPR,missense_variant,p.Phe816Cys,ENST00000568530,;PDPR,missense_variant,p.Phe716Cys,ENST00000398122,;PDPR,missense_variant,p.Phe161Cys,ENST00000542659,;PDPR,missense_variant,p.Phe174Cys,ENST00000567046,;PDPR,downstream_gene_variant,,ENST00000567896,;PDPR,downstream_gene_variant,,ENST00000569042,;PDPR,downstream_gene_variant,,ENST00000563930,;RP11-296I10.3,intron_variant,,ENST00000566989,;RP11-296I10.3,downstream_gene_variant,,ENST00000502126,;PDPR,non_coding_transcript_exon_variant,,ENST00000562100,;PDPR,3_prime_UTR_variant,,ENST00000565186,;PDPR,3_prime_UTR_variant,,ENST00000564563,;	uc002eyf.1	c.2447T>G	3404/7999	3	3			c.2447T>G						16	SNP	c.(2446-2448)TTT>TGT	4	4			breast(1)	1	Broad	pyruvate dehydrogenase phosphatase regulatory			70190589		0.552	ENSG00000090857	11495	g.chr16:70190589T>G	glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity							157.908683	KEEP	38	40	-1	177	192	38	40	-1	199.39532	177	192	0.167089	1	0	0	0	0	1	0	0	0	--	--		0	G			CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.F716C|PDPR_uc002eyg.1_Missense_Mutation_p.F483C|PDPR_uc002eyh.2_Missense_Mutation_p.F161C|PDPR_uc010vls.1_Missense_Mutation_p.F161C	60	GBM-06-0646-TP	p.F816C	T	TGCCTGGGCTTTGTGCACAAT	NM_017990	NP_060460	70190589	Q8NCN5	PDPR_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.124)	19	3404	+	G	G			Missense_Mutation	816						
PDPR	0	broad.mit.edu	GRCh37	16	70172800	70172800	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G			TCGA-06-6700-01	TCGA-06-6700-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288050.4:c.1191-2A>G		p.X397_splice	ENST00000288050	NM_017990.3			0			1			G		uc002eyf.1	protein_coding	YES	CCDS45520.1			1191/2640									breast(1)	1	c.e11-2				pyruvate dehydrogenase phosphatase regulatory				ENSP00000288050											COSM3402443		.		ENST00000288050	Transcript			glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	ENSG00000090857	g.chr16:70172800A>G	30264			HIGH	18-Oct							--	--	1																																		CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Splice_Site_p.K297_splice|PDPR_uc002eyg.1_Splice_Site_p.K125_splice	1	1			p.K397_splice	NM_017990	NP_060460			1	PDPR_HUMAN	PDPR	HGNC	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	H3BV59_HUMAN,H3BU60_HUMAN,B7ZAR9_HUMAN,B3KSE1_HUMAN,A8MT40_HUMAN		11	2148	+			UPI00001FF513						SNV	PDPR,splice_acceptor_variant,,ENST00000288050,NM_017990.3;PDPR,splice_acceptor_variant,,ENST00000568530,;PDPR,splice_acceptor_variant,,ENST00000398122,;PDPR,splice_acceptor_variant,,ENST00000562100,;PDPR,splice_acceptor_variant,,ENST00000565186,;PDPR,splice_acceptor_variant,,ENST00000561920,;	uc002eyf.1	c.1191_splice	-/7999	5	3			c.1191_splice						16	SNP	c.e11-2	54	54			breast(1)	1	Broad	pyruvate dehydrogenase phosphatase regulatory			70172800		0.443	ENSG00000090857	11495	g.chr16:70172800A>G	glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity							-14.1246	KEEP	1	4	-1	87	61	1	4	-1	12.399228	87	61	0.042373	1	0	0	0	0	0	0	0	1	--	--		0	G			CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Splice_Site_p.K297_splice|PDPR_uc002eyg.1_Splice_Site_p.K125_splice	114	GBM-06-6700-TP	p.K397_splice	A	CTGTCTATATAGGTACCTTGC	NM_017990	NP_060460	70172800	Q8NCN5	PDPR_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.124)	11	2148	+	G	G			Splice_Site							
PDS5A	23244		GRCh37	4	39839671	39839671	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000303538.8:c.3815G>A	p.Arg1272His	p.R1272H	ENST00000303538	NM_001100399.1	1272	cGt/cAt	0																																																																																																																																																																																																																																												
PDYN	5173	broad.mit.edu	GRCh37	20	1961118	1961118	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0171-01	TCGA-06-0171-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217305.2:c.616C>T	p.Arg206Cys	p.R206C	ENST00000217305	NM_024411.4	206	Cgc/Tgc	0			1			A	R/C	uc010gaj.2	protein_coding	YES	CCDS13023.1			616/765									upper_aerodigestive_tract(1)|ovary(1)	2	c.(616-618)CGC>TGC			hmmpanther:PTHR11438,hmmpanther:PTHR11438:SF4	beta-neoendorphin-dynorphin preproprotein				ENSP00000217305		4-Apr	0.000132		8.64E-05	0.000116		0.00018		0.000121	rs575606358,COSM1326867	4-Apr	.		ENST00000217305	Transcript	1		cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	ENSG00000101327	g.chr20:1961118G>A	8820			MODERATE		3.12	medium	getma.org/?cm=msa&ty=f&p=PDYN_HUMAN&rb=70&re=254&var=R206C	NA	getma.org/?cm=var&var=hg19,20,1961118,G,A&fts=all	R206C	--	--	1																																		uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.R206C|PDYN_uc010zpt.1_Missense_Mutation_p.R51C	0,1	1		probably_damaging(1)	p.R206C	NM_024411	NP_077722		deleterious(0)	0,1	PDYN_HUMAN	PDYN	HGNC	P01213	PDYN_HUMAN			Q2YEM6_HUMAN,Q2YEL0_HUMAN,B4DIB7_HUMAN		3	858	-			UPI000012FE6A	206					SNV	PDYN,missense_variant,p.Arg206Cys,ENST00000217305,NM_024411.4,NM_001190898.2,NM_001190892.1;PDYN,missense_variant,p.Arg206Cys,ENST00000539905,NM_001190899.2;PDYN,missense_variant,p.Arg206Cys,ENST00000540134,NM_001190900.1;RP4-684O24.5,intron_variant,,ENST00000446562,;	uc010gaj.2	c.616C>T	842/2555	1	1			c.616C>T						20	SNP	c.(616-618)CGC>TGC	52	52			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	beta-neoendorphin-dynorphin preproprotein			1961118		0.592	ENSG00000101327	11505	g.chr20:1961118G>A	cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity							170.258775	KEEP	43	41	-1	139	148	43	41	-1	192.599529	139	148	0.227964	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.R206C|PDYN_uc010zpt.1_Missense_Mutation_p.R51C	35	GBM-06-0171-TP	p.R206C	G	CCCCCATAGCGTTTGTACAGG	NM_024411	NP_077722	1961118	P01213	PDYN_HUMAN	0			3	858	-	A	A			Missense_Mutation	206						
PDYN	0	broad.mit.edu	GRCh37	20	1961151	1961151	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01	TCGA-76-6193-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217305.2:c.583G>A	p.Gly195Arg	p.G195R	ENST00000217305	NM_024411.4	195	Ggg/Agg	0			1			T	G/R	uc010gaj.2	protein_coding	YES	CCDS13023.1			583/765									upper_aerodigestive_tract(1)|ovary(1)	2	c.(583-585)GGG>AGG			hmmpanther:PTHR11438,hmmpanther:PTHR11438:SF4	beta-neoendorphin-dynorphin preproprotein				ENSP00000217305		4-Apr									rs766877230,COSM3404962	4-Apr	.		ENST00000217305	Transcript	1		cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	ENSG00000101327	g.chr20:1961151C>T	8820			MODERATE		0.365	neutral	getma.org/?cm=msa&ty=f&p=PDYN_HUMAN&rb=70&re=254&var=G195R	NA	getma.org/?cm=var&var=hg19,20,1961151,C,T&fts=all	G195R	--	--	1																																		uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.G195R|PDYN_uc010zpt.1_Missense_Mutation_p.G40R	0,1	1		benign(0.186)	p.G195R	NM_024411	NP_077722		tolerated(0.08)	0,1	PDYN_HUMAN	PDYN	HGNC	P01213	PDYN_HUMAN			Q2YEM6_HUMAN,Q2YEL0_HUMAN,B4DIB7_HUMAN		3	825	-			UPI000012FE6A	195					SNV	PDYN,missense_variant,p.Gly195Arg,ENST00000217305,NM_024411.4,NM_001190898.2,NM_001190892.1;PDYN,missense_variant,p.Gly195Arg,ENST00000539905,NM_001190899.2;PDYN,missense_variant,p.Gly195Arg,ENST00000540134,NM_001190900.1;RP4-684O24.5,intron_variant,,ENST00000446562,;	uc010gaj.2	c.583G>A	809/2555	2	2			c.583G>A						20	SNP	c.(583-585)GGG>AGG	44	44			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	beta-neoendorphin-dynorphin preproprotein			1961151		0.597	ENSG00000101327	11505	g.chr20:1961151C>T	cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity							65.506633	KEEP	11	19	-1	45	38	11	19	-1	71.587246	45	38	0.247619	1	0	0	0	0	1	0	0	0	--	--		0	T			uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.G195R|PDYN_uc010zpt.1_Missense_Mutation_p.G40R	276	GBM-76-6193-TP	p.G195R	C	ATGCTATCCCCGTCCCCCTCC	NM_024411	NP_077722	1961151	P01213	PDYN_HUMAN	0			3	825	-	T	T			Missense_Mutation	195						
PDZD2	23037	broad.mit.edu	GRCh37	5	31995769	31995769	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01	TCGA-06-0744-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000438447.1:c.1066C>T	p.Arg356Cys	p.R356C	ENST00000438447		356	Cgc/Tgc	0			1			T	R/C	uc003jhl.2	protein_coding	YES	CCDS34137.1			1066/8520									central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9	c.(1066-1068)CGC>TGC			PROSITE_profiles:PS50106,hmmpanther:PTHR11324:SF16,hmmpanther:PTHR11324,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156	PDZ domain containing 2				ENSP00000402033		25-Apr	8.24E-06		8.65E-05						COSM3410232	25-Apr	.		ENST00000438447	Transcript			cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		ENSG00000133401	g.chr5:31995769C>T	18486			MODERATE		1.645	low	getma.org/?cm=msa&ty=f&p=PDZD2_HUMAN&rb=334&re=416&var=R356C	getma.org/pdb.php?prot=PDZD2_HUMAN&from=334&to=416&var=R356C	getma.org/?cm=var&var=hg19,5,31995769,C,T&fts=all	R356C	--	--	1																																		PDZD2_uc003jhm.2_Missense_Mutation_p.R356C|PDZD2_uc011cnx.1_Missense_Mutation_p.R182C	1	1		probably_damaging(0.998)	p.R356C	NM_178140	NP_835260		deleterious(0)	1	PDZD2_HUMAN	PDZD2	HGNC	O15018	PDZD2_HUMAN			B4DGS3_HUMAN		4	1454	+			UPI000069648B	356			PDZ 2.		SNV	PDZD2,missense_variant,p.Arg356Cys,ENST00000438447,;PDZD2,missense_variant,p.Arg356Cys,ENST00000282493,NM_178140.2;PDZD2,non_coding_transcript_exon_variant,,ENST00000502489,;	uc003jhl.2	c.1066C>T	1454/11704	2	2			c.1066C>T						5	SNP	c.(1066-1068)CGC>TGC	30	30			central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9	Broad	PDZ domain containing 2			31995769		0.423	ENSG00000133401	11507	g.chr5:31995769C>T	cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus								-6.520814	KEEP	1	2	-1	24	33	1	2	-1	6.362048	24	33	0.05	1	0	0	0	0	1	0	0	0	--	--		0	T			PDZD2_uc003jhm.2_Missense_Mutation_p.R356C|PDZD2_uc011cnx.1_Missense_Mutation_p.R182C	66	GBM-06-0744-TP	p.R356C	C	AGGATCAAAGCGCTCACCTCA	NM_178140	NP_835260	31995769	O15018	PDZD2_HUMAN	0			4	1454	+	T	T			Missense_Mutation	356			PDZ 2.			
PDZD2	0	broad.mit.edu	GRCh37	5	32074373	32074381	+	inframe_deletion	In_Frame_Del	DEL	CCTATGCAG	CCTATGCAG	-			TCGA-32-2495-01	TCGA-32-2495-01	CCTATGCAG	CCTATGCAG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000438447.1:c.3163_3171delTATGCAGCC	p.Tyr1055_Ala1057del	p.Y1055_A1057del	ENST00000438447		1054	tCCTATGCAGcc/tcc	0			1			-	SYAA/S	uc003jhl.2	protein_coding	YES	CCDS34137.1			3161-3169/8520									central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9	c.(3160-3171)TCCTATGCAGCC>TCC			hmmpanther:PTHR11324:SF16,hmmpanther:PTHR11324	PDZ domain containing 2				ENSP00000402033		18/25										18/25	.		ENST00000438447	Transcript			cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		ENSG00000133401	g.chr5:32074373_32074381delCCTATGCAG	18486	2		MODERATE								--	--	1																																		PDZD2_uc003jhm.2_In_Frame_Del_p.YAA1055del|PDZD2_uc011cnx.1_In_Frame_Del_p.YAA881del		1			p.YAA1055del	NM_178140	NP_835260				PDZD2_HUMAN	PDZD2	HGNC	O15018	PDZD2_HUMAN			B4DGS3_HUMAN		18	3549_3557	+			UPI000069648B	1055_1057					deletion	PDZD2,inframe_deletion,p.Tyr1055_Ala1057del,ENST00000438447,;PDZD2,inframe_deletion,p.Tyr1055_Ala1057del,ENST00000282493,NM_178140.2;PDZD2,downstream_gene_variant,,ENST00000513184,;PDZD2,upstream_gene_variant,,ENST00000503961,;PDZD2,non_coding_transcript_exon_variant,,ENST00000502489,;	uc003jhl.2	c.3161_3169delCCTATGCAG	3549-3557/11704	5	5			c.3161_3169delCCTATGCAG						5	DEL	c.(3160-3171)TCCTATGCAGCC>TCC	24	24			central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9	Broad	PDZ domain containing 2			32074381		0.569	ENSG00000133401	11507	g.chr5:32074373_32074381delCCTATGCAG	cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus																					0.03	1	1	0	1	0	0	0	0	0	--	--		0	-			PDZD2_uc003jhm.2_In_Frame_Del_p.YAA1055del|PDZD2_uc011cnx.1_In_Frame_Del_p.YAA881del	237	GBM-32-2495-TP	p.YAA1055del	CCTATGCAG	GATGCTGCGTCCTATGCAGCCAACCTCAC	NM_178140	NP_835260	32074373	O15018	PDZD2_HUMAN	0			18	3549_3557	+	-	-			In_Frame_Del	1055_1057						
PDZD3	79849	broad.mit.edu	GRCh37	11	119059718	119059718	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01	TCGA-06-0185-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355547.5:c.1292C>T	p.Thr431Ile	p.T431I	ENST00000355547	NM_001168468.1	431	aCt/aTt	0			1			T	T/I	uc001pwb.2	protein_coding					1490/1716									breast(1)	1	c.(1489-1491)ACT>ATT			PROSITE_profiles:PS50106,hmmpanther:PTHR14191:SF5,hmmpanther:PTHR14191,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156	RecName: Full=Na(+)/H(+) exchange regulatory cofactor NHE-RF4;          Short=NHERF-4; AltName: Full=PDZ domain-containing protein 3; AltName: Full=PDZ domain-containing protein 2; AltName: Full=Intestinal and kidney-enriched PDZ protein; AltName: Full=Sodium-hydrogen exchanger regulatory factor 4;				ENSP00000431164		9-Aug									COSM3397466,COSM3397467	9-Aug	.		ENST00000531114	Transcript			cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding	ENSG00000172367	g.chr11:119059718C>T	19891			MODERATE		0.2	neutral	getma.org/?cm=msa&ty=f&p=NHRF4_HUMAN&rb=468&re=545&var=T497I	getma.org/pdb.php?prot=NHRF4_HUMAN&from=468&to=545&var=T497I	getma.org/?cm=var&var=hg19,11,119059718,C,T&fts=all	T497I	--	--	1																																		PDZD3_uc001pvy.2_Missense_Mutation_p.T417I|PDZD3_uc001pvz.2_Missense_Mutation_p.T431I|PDZD3_uc010rzd.1_Missense_Mutation_p.T418I|PDZD3_uc001pwa.2_Missense_Mutation_p.T127I	1,1			probably_damaging(0.949)	p.T497I				deleterious(0.02)	1,1	NHRF4_HUMAN	PDZD3	HGNC	Q86UT5	NHRF4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)			8	2014	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	UPI0000EE3B11	497			PDZ 4.		SNV	PDZD3,missense_variant,p.Thr497Ile,ENST00000531114,;PDZD3,missense_variant,p.Thr497Ile,ENST00000392817,;PDZD3,missense_variant,p.Thr431Ile,ENST00000355547,NM_001168468.1;PDZD3,missense_variant,p.Thr417Ile,ENST00000322712,NM_024791.3;PDZD3,missense_variant,p.Thr418Ile,ENST00000525131,;NLRX1,downstream_gene_variant,,ENST00000409109,NM_001282144.1;NLRX1,downstream_gene_variant,,ENST00000292199,NM_024618.2,NM_001282358.1;NLRX1,downstream_gene_variant,,ENST00000409991,NM_001282143.1;NLRX1,downstream_gene_variant,,ENST00000409265,NM_170722.1;NLRX1,downstream_gene_variant,,ENST00000525863,;CCDC153,downstream_gene_variant,,ENST00000503566,;CCDC153,downstream_gene_variant,,ENST00000415318,NM_001145018.1;PDZD3,non_coding_transcript_exon_variant,,ENST00000534790,;PDZD3,non_coding_transcript_exon_variant,,ENST00000529098,;PDZD3,non_coding_transcript_exon_variant,,ENST00000527028,;CCDC153,downstream_gene_variant,,ENST00000375140,;PDZD3,downstream_gene_variant,,ENST00000527951,;PDZD3,downstream_gene_variant,,ENST00000527308,;PDZD3,downstream_gene_variant,,ENST00000528730,;PDZD3,downstream_gene_variant,,ENST00000526279,;PDZD3,downstream_gene_variant,,ENST00000533688,;PDZD3,downstream_gene_variant,,ENST00000526836,;PDZD3,downstream_gene_variant,,ENST00000529573,;	uc001pwb.2	c.1490C>T	2039/2996	2	2			c.1490C>T						11	SNP	c.(1489-1491)ACT>ATT	45	45			breast(1)	1	Broad	RecName: Full=Na(+)/H(+) exchange regulatory cofactor NHE-RF4;          Short=NHERF-4; AltName: Full=PDZ domain-containing protein 3; AltName: Full=PDZ domain-containing protein 2; AltName: Full=Intestinal and kidney-enriched PDZ protein; AltName: Full=Sodium-hydrogen exchanger regulatory factor 4;			119059718		0.602	ENSG00000172367	11508	g.chr11:119059718C>T	cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding							-4.568505	KEEP	8	7	-1	95	91	8	7	-1	25.888051	95	91	0.077844	1	0	0	0	0	1	0	0	0	--	--		0	T			PDZD3_uc001pvy.2_Missense_Mutation_p.T417I|PDZD3_uc001pvz.2_Missense_Mutation_p.T431I|PDZD3_uc010rzd.1_Missense_Mutation_p.T418I|PDZD3_uc001pwa.2_Missense_Mutation_p.T127I	40	GBM-06-0185-TP	p.T497I	C	CACCAGGTGACTCCAGGAGGC			119059718	Q86UT5	NHRF4_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)	8	2014	+	T	T	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	Missense_Mutation	497			PDZ 4.			
PDZD3	0	broad.mit.edu	GRCh37	11	119058000	119058000	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-28-2514-01	TCGA-28-2514-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000531114.1:c.550A>T	p.Ser184Cys	p.S184C	ENST00000531114		184	Agc/Tgc	0			1			T	S/C	uc001pwb.2	protein_coding					550/1716									breast(1)	1	c.(550-552)AGC>TGC			PROSITE_profiles:PS50106,hmmpanther:PTHR14191:SF5,hmmpanther:PTHR14191,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156	RecName: Full=Na(+)/H(+) exchange regulatory cofactor NHE-RF4;          Short=NHERF-4; AltName: Full=PDZ domain-containing protein 3; AltName: Full=PDZ domain-containing protein 2; AltName: Full=Intestinal and kidney-enriched PDZ protein; AltName: Full=Sodium-hydrogen exchanger regulatory factor 4;				ENSP00000431164		9-Mar									COSM3397464,COSM3397465	9-Mar	.		ENST00000531114	Transcript			cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding	ENSG00000172367	g.chr11:119058000A>T	19891			MODERATE		1.82	low	getma.org/?cm=msa&ty=f&p=NHRF4_HUMAN&rb=116&re=193&var=S184C	getma.org/pdb.php?prot=NHRF4_HUMAN&from=116&to=193&var=S184C	getma.org/?cm=var&var=hg19,11,119058000,A,T&fts=all	S184C	--	--	1																																		PDZD3_uc001pvy.2_Missense_Mutation_p.S118C|PDZD3_uc001pvz.2_Missense_Mutation_p.S118C|PDZD3_uc010rzd.1_Missense_Mutation_p.S105C|PDZD3_uc001pwa.2_5'UTR	1,1			probably_damaging(1)	p.S184C				deleterious(0.01)	1,1	NHRF4_HUMAN	PDZD3	HGNC	Q86UT5	NHRF4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)			3	1074	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	UPI0000EE3B11	184			PDZ 1.		SNV	PDZD3,missense_variant,p.Ser184Cys,ENST00000531114,;PDZD3,missense_variant,p.Ser184Cys,ENST00000392817,;PDZD3,missense_variant,p.Ser118Cys,ENST00000355547,NM_001168468.1;PDZD3,missense_variant,p.Ser118Cys,ENST00000322712,NM_024791.3;PDZD3,missense_variant,p.Ser105Cys,ENST00000525131,;NLRX1,downstream_gene_variant,,ENST00000409109,NM_001282144.1;NLRX1,downstream_gene_variant,,ENST00000292199,NM_024618.2,NM_001282358.1;NLRX1,downstream_gene_variant,,ENST00000409991,NM_001282143.1;NLRX1,downstream_gene_variant,,ENST00000409265,NM_170722.1;NLRX1,downstream_gene_variant,,ENST00000525863,;CCDC153,downstream_gene_variant,,ENST00000503566,;CCDC153,downstream_gene_variant,,ENST00000415318,NM_001145018.1;PDZD3,non_coding_transcript_exon_variant,,ENST00000534790,;PDZD3,non_coding_transcript_exon_variant,,ENST00000529098,;PDZD3,non_coding_transcript_exon_variant,,ENST00000527028,;PDZD3,non_coding_transcript_exon_variant,,ENST00000527951,;PDZD3,intron_variant,,ENST00000528730,;PDZD3,intron_variant,,ENST00000533688,;CCDC153,downstream_gene_variant,,ENST00000375140,;PDZD3,downstream_gene_variant,,ENST00000527308,;PDZD3,downstream_gene_variant,,ENST00000526279,;PDZD3,downstream_gene_variant,,ENST00000526836,;PDZD3,downstream_gene_variant,,ENST00000529573,;	uc001pwb.2	c.550A>T	1099/2996	2	2			c.550A>T						11	SNP	c.(550-552)AGC>TGC	41	41			breast(1)	1	Broad	RecName: Full=Na(+)/H(+) exchange regulatory cofactor NHE-RF4;          Short=NHERF-4; AltName: Full=PDZ domain-containing protein 3; AltName: Full=PDZ domain-containing protein 2; AltName: Full=Intestinal and kidney-enriched PDZ protein; AltName: Full=Sodium-hydrogen exchanger regulatory factor 4;			119058000		0.632	ENSG00000172367	11508	g.chr11:119058000A>T	cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding							23.993356	KEEP	4	5	-1	8	13	4	5	-1	24.583093	8	13	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	T			PDZD3_uc001pvy.2_Missense_Mutation_p.S118C|PDZD3_uc001pvz.2_Missense_Mutation_p.S118C|PDZD3_uc010rzd.1_Missense_Mutation_p.S105C|PDZD3_uc001pwa.2_5'UTR	214	GBM-28-2514-TP	p.S184C	A	CATCCGGGCCAGCAGCCCTCG			119058000	Q86UT5	NHRF4_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)	3	1074	+	T	T	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	Missense_Mutation	184			PDZ 1.			
PDZD3	79849		GRCh37	11	119059542	119059542	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000355547.5:c.1253G>T	p.Cys418Phe	p.C418F	ENST00000355547	NM_001168468.1	418	tGt/tTt	0																																																																																																																																																																																																																																												
PDZD4	0	broad.mit.edu	GRCh37	X	153069052	153069052	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01	TCGA-12-0615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000164640.4:c.2066G>A	p.Arg689His	p.R689H	ENST00000164640	NM_032512.2	689	cGt/cAt	0			1			T	R/H	uc004fiz.1	protein_coding	YES	CCDS14732.1			2066/2310									breast(1)	1	c.(2065-2067)CGT>CAT			hmmpanther:PTHR15545,hmmpanther:PTHR15545:SF4	PDZ domain containing 4				ENSP00000164640		8-Aug									COSM2153523	8-Aug	.		ENST00000164640	Transcript				cell cortex		ENSG00000067840	g.chrX:153069052C>T	21167			MODERATE		2.33	medium	getma.org/?cm=msa&ty=f&p=PDZD4_HUMAN&rb=613&re=769&var=R689H	NA	getma.org/?cm=var&var=hg19,X,153069052,C,T&fts=all	R689H	--	--	1																																		PDZD4_uc004fiy.1_Missense_Mutation_p.R614H|PDZD4_uc004fix.2_Missense_Mutation_p.R593H|PDZD4_uc004fja.1_Missense_Mutation_p.R695H|PDZD4_uc011mze.1_Missense_Mutation_p.R580H	1	1		probably_damaging(0.999)	p.R689H	NM_032512	NP_115901		deleterious(0)	1	PDZD4_HUMAN	PDZD4	HGNC	Q76G19	PDZD4_HUMAN			Q17RL8_HUMAN		8	2316	-	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		UPI0000211CAA	689					SNV	PDZD4,missense_variant,p.Arg689His,ENST00000164640,NM_032512.2;PDZD4,missense_variant,p.Arg614His,ENST00000393758,;PDZD4,missense_variant,p.Arg580His,ENST00000544474,;PDZD4,downstream_gene_variant,,ENST00000475140,;PDZD4,downstream_gene_variant,,ENST00000483693,;PDZD4,downstream_gene_variant,,ENST00000484792,;PDZD4,downstream_gene_variant,,ENST00000468491,;PDZD4,downstream_gene_variant,,ENST00000480418,;PDZD4,downstream_gene_variant,,ENST00000480650,;	uc004fiz.1	c.2066G>A	2258/3689	2	2			c.2066G>A						23	SNP	c.(2065-2067)CGT>CAT	20	20			breast(1)	1	Broad	PDZ domain containing 4			153069052		0.647	ENSG00000067840	11509	g.chrX:153069052C>T		cell cortex								181.417039	KEEP	45	36	-1	78	68	45	36	-1	184.74532	78	68	0.353933	1	0	0	0	0	1	0	0	0	--	--		0	T			PDZD4_uc004fiy.1_Missense_Mutation_p.R614H|PDZD4_uc004fix.2_Missense_Mutation_p.R593H|PDZD4_uc004fja.1_Missense_Mutation_p.R695H|PDZD4_uc011mze.1_Missense_Mutation_p.R580H	117	GBM-12-0615-TP	p.R689H	C	CCGCTGCTCACGGGCCCGGAT	NM_032512	NP_115901	153069052	Q76G19	PDZD4_HUMAN	0			8	2316	-	T	T	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	689						
PDZD4	57595		GRCh37	X	153069697	153069697	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000164640.4:c.1421G>C	p.Gly474Ala	p.G474A	ENST00000164640	NM_032512.2	474	gGg/gCg	0																																																																																																																																																																																																																																												
PDZD7	0	broad.mit.edu	GRCh37	10	102789812	102789812	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-41-3915-01	TCGA-41-3915-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370215.3:c.165C>A	p.Pro55=	p.P55=	ENST00000370215	NM_024895.4	55	ccC/ccA	0			1			T	P	uc001kso.1	protein_coding	YES	CCDS31269.1			165/1554									ovary(1)|breast(1)|central_nervous_system(1)	3	c.(163-165)CCC>CCA			hmmpanther:PTHR23116,hmmpanther:PTHR23116:SF30	PDZ domain containing 7				ENSP00000359234		10-Feb									COSM3396877,COSM3396878	10-Feb	.		ENST00000370215	Transcript	1			cilium|nucleus	protein binding	ENSG00000186862	g.chr10:102789812G>T	26257			LOW								--	--	1																																		PDZD7_uc001ksn.2_Silent_p.P55P|SFXN3_uc001ksp.2_5'Flank|SFXN3_uc001ksq.2_5'Flank|SFXN3_uc010qpx.1_5'Flank	1,1	1			p.P55P	NM_024895	NP_079171			1,1	PDZD7_HUMAN	PDZD7	HGNC	Q9H5P4	PDZD7_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	S4R3X4_HUMAN		2	380	-			UPI0000072FD2	55					SNV	PDZD7,synonymous_variant,p.=,ENST00000370215,NM_024895.4;PDZD7,synonymous_variant,p.=,ENST00000470414,;SFXN3,upstream_gene_variant,,ENST00000393459,;SFXN3,upstream_gene_variant,,ENST00000224807,NM_030971.3;PDZD7,synonymous_variant,p.=,ENST00000474125,;PDZD7,non_coding_transcript_exon_variant,,ENST00000476306,;SFXN3,upstream_gene_variant,,ENST00000489434,;	uc001kso.1	c.165C>A	391/2032	2	2			c.165C>A						10	SNP	c.(163-165)CCC>CCA	17	17			ovary(1)|breast(1)|central_nervous_system(1)	3	Broad	PDZ domain containing 7			102789812		0.662	ENSG00000186862	11510	g.chr10:102789812G>T		cilium|nucleus	protein binding							28.933084	KEEP	11	10	0.523809524	60	43	11	10	0.523809524	35.450744	60	43	0.207317	1	0	0	0	0	0	0	1	0	--	--		0	T			PDZD7_uc001ksn.2_Silent_p.P55P|SFXN3_uc001ksp.2_5'Flank|SFXN3_uc001ksq.2_5'Flank|SFXN3_uc010qpx.1_5'Flank	256	GBM-41-3915-TP	p.P55P	G	GGATTCCGCGGGGGGGCCCGT	NM_024895	NP_079171	102789812	Q9H5P4	PDZD7_HUMAN	0		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	2	380	-	T	T			Silent	55						
PDZRN4	29951		GRCh37	12	41967365	41967365	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000402685.2:c.2784C>T	p.Asp928=	p.D928=	ENST00000402685	NM_001164595.1	928	gaC/gaT	0																																																																																																																																																																																																																																												
PEAK1	79834	broad.mit.edu	GRCh37	15	77473255	77473255	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0645-01	TCGA-06-0645-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000560626.2:c.1014A>G	p.Ser338=	p.S338=	ENST00000560626		338	tcA/tcG	0			1			C	S	uc002bcm.2	protein_coding		CCDS42062.1			1014/5241										0	c.(1012-1014)TCA>TCG			hmmpanther:PTHR22972,hmmpanther:PTHR22972:SF5,Low_complexity_(Seg):seg	NKF3 kinase family member				ENSP00000309230		5-Feb									COSM2151284,COSM2151285	5-Feb	.		ENST00000312493	Transcript			cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	ENSG00000173517	g.chr15:77473255T>C	29431			LOW								--	--	1																																		SGK269_uc002bcn.2_Silent_p.S338S	1,1				p.S338S	NM_024776	NP_079052			1,1	PEAK1_HUMAN	PEAK1	HGNC	Q9H792	PEAK1_HUMAN		STAD - Stomach adenocarcinoma(199;0.124)	H3BUZ5_HUMAN,H3BUE6_HUMAN		3	1322	-			UPI00002378D0	338			Ser-rich.		SNV	PEAK1,synonymous_variant,p.=,ENST00000560626,;PEAK1,synonymous_variant,p.=,ENST00000312493,NM_024776.3;PEAK1,synonymous_variant,p.=,ENST00000558305,;PEAK1,synonymous_variant,p.=,ENST00000564328,;PEAK1,downstream_gene_variant,,ENST00000565820,;PEAK1,upstream_gene_variant,,ENST00000559791,;PEAK1,downstream_gene_variant,,ENST00000567808,;PEAK1,upstream_gene_variant,,ENST00000560854,;	uc002bcm.2	c.1014A>G	1293/11547	3	3			c.1014A>G						15	SNP	c.(1012-1014)TCA>TCG	2	2				0	Broad	NKF3 kinase family member			77473255		0.423	ENSG00000173517	13988	g.chr15:77473255T>C	cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			217			217	134.139937	KEEP	26	19	-1	45	42	26	19	-1	136.404827	45	42	0.357143	1	0	0	0	0	0	0	1	0	--	--		0	C			SGK269_uc002bcn.2_Silent_p.S338S	59	GBM-06-0645-TP	p.S338S	T	TGGAGTCAGATGACACCATGC	NM_024776	NP_079052	77473255	Q9H792	PEAK1_HUMAN	0		STAD - Stomach adenocarcinoma(199;0.124)	3	1322	-	C	C			Silent	338			Ser-rich.			
PEAR1	0	broad.mit.edu	GRCh37	1	156875138	156875138	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5139-01	TCGA-26-5139-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000292357.7:c.229C>T	p.Arg77Cys	p.R77C	ENST00000292357	NM_001080471.1	77	Cgt/Tgt	0			1			T	R/C	uc001fqj.1	protein_coding		CCDS30892.1			229/3114									ovary(2)|central_nervous_system(1)	3	c.(229-231)CGT>TGT			PROSITE_profiles:PS51041,hmmpanther:PTHR24052,hmmpanther:PTHR24052:SF9,Low_complexity_(Seg):seg	platelet endothelial aggregation receptor 1				ENSP00000292357		23-Apr									COSM1317653	23-Apr	.		ENST00000292357	Transcript				integral to membrane		ENSG00000187800	g.chr1:156875138C>T	33631			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=PEAR1_HUMAN&rb=20&re=77&var=R77C	NA	getma.org/?cm=var&var=hg19,1,156875138,C,T&fts=all	R77C	--	--	1																																		PEAR1_uc009wsl.1_5'Flank|PEAR1_uc001fqk.1_5'Flank	1			probably_damaging(0.932)	p.R77C	NM_001080471	NP_001073940		deleterious(0)	1	PEAR1_HUMAN	PEAR1	HGNC	Q5VY43	PEAR1_HUMAN			A6PVP2_HUMAN		4	345	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		UPI000045889A	77			EMI.		SNV	PEAR1,missense_variant,p.Arg77Cys,ENST00000338302,;PEAR1,missense_variant,p.Arg77Cys,ENST00000292357,NM_001080471.1;PEAR1,missense_variant,p.Arg77Cys,ENST00000455314,;PEAR1,3_prime_UTR_variant,,ENST00000444016,;PEAR1,upstream_gene_variant,,ENST00000469390,;PEAR1,upstream_gene_variant,,ENST00000482505,;	uc001fqj.1	c.229C>T	345/4866	2	2			c.229C>T						1	SNP	c.(229-231)CGT>TGT	41	41			ovary(2)|central_nervous_system(1)	3	Broad	platelet endothelial aggregation receptor 1			156875138		0.657	ENSG00000187800	11518	g.chr1:156875138C>T		integral to membrane								44.285806	KEEP	10	14	-1	12	21	10	14	-1	45.006497	12	21	0.363636	1	0	0	0	0	1	0	0	0	--	--		0	T			PEAR1_uc009wsl.1_5'Flank|PEAR1_uc001fqk.1_5'Flank	186	GBM-26-5139-TP	p.R77C	C	GACCGTGTACCGTCAGGTGGT	NM_001080471	NP_001073940	156875138	Q5VY43	PEAR1_HUMAN	0			4	345	+	T	T	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		Missense_Mutation	77			EMI.			
PEG10	0	broad.mit.edu	GRCh37	7	94293142	94293142	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-26-5132-01	TCGA-26-5132-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000482108.1:c.274A>G	p.Met92Val	p.M92V	ENST00000482108	NM_001172437.1	92	Atg/Gtg	0			1			G	M/V	uc011kie.1	protein_coding	YES	CCDS55126.1			274/978									central_nervous_system(1)	1	c.(502-504)ATG>GTG			hmmpanther:PTHR15503,hmmpanther:PTHR15503:SF0	paternally expressed 10 isoform RF1				ENSP00000417587		2-Feb									COSM3412507	2-Feb	.		ENST00000482108	Transcript			apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	ENSG00000242265	g.chr7:94293142A>G	14005			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=PEG10_HUMAN&rb=1&re=118&var=M92V	NA	getma.org/?cm=var&var=hg19,7,94293142,A,G&fts=all	M92V	--	--	1																																			1	1		benign(0.034)	p.M168V	NM_001040152	NP_001035242		tolerated(0.07)	1	PEG10_HUMAN	PEG10	HGNC	Q86TG7	PEG10_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		B4DSP0_HUMAN		2	719	+	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		UPI0000047FA3	92			Necessary for interaction with ALK1.		SNV	PEG10,missense_variant,p.Met92Val,ENST00000482108,NM_001172437.1,NM_001172438.1,NM_015068.3,NM_001040152.1,NM_001184961.1,NM_001184962.1;PEG10,missense_variant,p.Met92Val,ENST00000488574,;PEG10,intron_variant,,ENST00000493935,;PEG10,upstream_gene_variant,,ENST00000465184,;	uc011kie.1	c.502A>G	753/6618	3	3			c.502A>G						7	SNP	c.(502-504)ATG>GTG	2	2			central_nervous_system(1)	1	Broad	paternally expressed 10 isoform RF1			94293142		0.562	ENSG00000242265	11525	g.chr7:94293142A>G	apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding							-17.16105	KEEP	3	1	-1	42	54	3	1	-1	6.510016	42	54	0.030612	1	0	0	0	0	1	0	0	0	--	--		0	G				181	GBM-26-5132-TP	p.M168V	A	CAACCCAGACATGCTGGCTCC	NM_001040152	NP_001035242	94293142	Q86TG7	PEG10_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.0031)		2	719	+	G	G	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		Missense_Mutation	92			Necessary for interaction with ALK1.			
PEG10	0	broad.mit.edu	GRCh37	7	94293373	94293373	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000482108.1:c.505C>T	p.Arg169Cys	p.R169C	ENST00000482108	NM_001172437.1	169	Cgc/Tgc	0			1			T	R/C	uc011kie.1	protein_coding	YES	CCDS55126.1			505/978									central_nervous_system(1)	1	c.(733-735)CGC>TGC			hmmpanther:PTHR15503,hmmpanther:PTHR15503:SF0,Pfam_domain:PF03732	paternally expressed 10 isoform RF1				ENSP00000417587		2-Feb									COSM3412508	2-Feb	.		ENST00000482108	Transcript			apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	ENSG00000242265	g.chr7:94293373C>T	14005			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=PEG10_HUMAN&rb=119&re=212&var=R169C	NA	getma.org/?cm=var&var=hg19,7,94293373,C,T&fts=all	R169C	--	--	1																																			1	1		benign(0.016)	p.R245C	NM_001040152	NP_001035242		tolerated(0.1)	1	PEG10_HUMAN	PEG10	HGNC	Q86TG7	PEG10_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		B4DSP0_HUMAN		2	950	+	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		UPI0000047FA3	169			Necessary for interaction with ALK1.		SNV	PEG10,missense_variant,p.Arg169Cys,ENST00000482108,NM_001172437.1,NM_001172438.1,NM_015068.3,NM_001040152.1,NM_001184961.1,NM_001184962.1;PEG10,missense_variant,p.Arg169Cys,ENST00000488574,;PEG10,intron_variant,,ENST00000493935,;PEG10,upstream_gene_variant,,ENST00000465184,;	uc011kie.1	c.733C>T	984/6618	1	1			c.733C>T						7	SNP	c.(733-735)CGC>TGC	9	9			central_nervous_system(1)	1	Broad	paternally expressed 10 isoform RF1			94293373		0.537	ENSG00000242265	11525	g.chr7:94293373C>T	apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding							410.687387	KEEP	87	86	-1	220	244	87	86	-1	437.173103	220	244	0.274611	1	0	0	0	0	1	0	0	0	--	--		0	T				271	GBM-76-4932-TP	p.R245C	C	GGTTGCCAAACGCAAGATCAG	NM_001040152	NP_001035242	94293373	Q86TG7	PEG10_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.0031)		2	950	+	T	T	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		Missense_Mutation	169			Necessary for interaction with ALK1.			
PEG3	5178	broad.mit.edu	GRCh37	19	57327999	57327999	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0241-01	TCGA-06-0241-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326441.9:c.1811G>A	p.Arg604His	p.R604H	ENST00000326441	NM_006210.2	604	cGc/cAc	0	T:0		1			T	R/H	uc002qnu.2	protein_coding	YES	CCDS12948.1			1811/4767								p.R604H(1)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12	c.(1810-1812)CGC>CAC			hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF78,Low_complexity_(Seg):seg	paternally expressed 3 isoform 1			T:0.0002	ENSP00000326581		10-Oct	4.12E-05					4.53E-05		0.000122	rs200022665,COSM84559,COSM1220168	10-Oct	.		ENST00000326441	Transcript			apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000198300	g.chr19:57327999C>T	8826			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=PEG3_HUMAN&rb=586&re=626&var=R604H	NA	getma.org/?cm=var&var=hg19,19,57327999,C,T&fts=all	R604H	--	--	1																																		ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R575H|PEG3_uc002qnv.2_Missense_Mutation_p.R604H|PEG3_uc002qnw.2_Missense_Mutation_p.R480H|PEG3_uc002qnx.2_Missense_Mutation_p.R478H|PEG3_uc010etr.2_Missense_Mutation_p.R604H	0,1,1	1		benign(0.039)	p.R604H	NM_001146186	NP_001139658		tolerated(0.58)	0,1,1	PEG3_HUMAN	PEG3	HGNC	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	M0QXG1_HUMAN		7	2162	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	UPI000006D36D	604					SNV	PEG3,missense_variant,p.Arg604His,ENST00000326441,NM_006210.2;PEG3,missense_variant,p.Arg604His,ENST00000423103,NM_001146184.1;PEG3,missense_variant,p.Arg480His,ENST00000598410,NM_001146185.1,NM_001146187.1;PEG3,missense_variant,p.Arg604His,ENST00000599534,NM_001146186.1;PEG3,missense_variant,p.Arg604His,ENST00000599577,;PEG3,missense_variant,p.Arg478His,ENST00000593695,;ZIM2,intron_variant,,ENST00000391708,NM_001146327.1,NM_001146326.1;ZIM2,intron_variant,,ENST00000599935,;ZIM2,intron_variant,,ENST00000221722,NM_015363.4;ZIM2,intron_variant,,ENST00000593711,;ZIM2,intron_variant,,ENST00000601070,;PEG3,downstream_gene_variant,,ENST00000600833,;ZIM2,intron_variant,,ENST00000595671,;ZIM2,intron_variant,,ENST00000597281,;	uc002qnu.2	c.1811G>A	2175/8723	1	1			c.1811G>A						19	SNP	c.(1810-1812)CGC>CAC	11	11		p.R604H(1)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12	Broad	paternally expressed 3 isoform 1			57327999		0.378	ENSG00000198300	11526	g.chr19:57327999C>T	apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							105.359322	KEEP	23	17	-1	22	24	23	17	-1	105.457957	22	24	0.4625	1	0	0	0	0	1	0	0	0	--	--		0	T			ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R575H|PEG3_uc002qnv.2_Missense_Mutation_p.R604H|PEG3_uc002qnw.2_Missense_Mutation_p.R480H|PEG3_uc002qnx.2_Missense_Mutation_p.R478H|PEG3_uc010etr.2_Missense_Mutation_p.R604H	57	GBM-06-0241-TP	p.R604H	C	GGTTTCCCCGCGCtcacgttc	NM_001146186	NP_001139658	57327999	Q9GZU2	PEG3_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0269)	7	2162	-	T	T		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	Missense_Mutation	604						
PEG3	0	broad.mit.edu	GRCh37	19	57326473	57326473	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326441.9:c.3337G>A	p.Gly1113Ser	p.G1113S	ENST00000326441	NM_006210.2	1113	Ggc/Agc	0			1			T	G/S	uc002qnu.2	protein_coding	YES	CCDS12948.1			3337/4767									ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12	c.(3337-3339)GGC>AGC			Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF78,SMART_domains:SM00355,Superfamily_domains:SSF57667	paternally expressed 3 isoform 1				ENSP00000326581		10-Oct	8.24E-06			0.000116					rs771243590,COSM3404686,COSM3404687	10-Oct	.		ENST00000326441	Transcript			apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000198300	g.chr19:57326473C>T	8826			MODERATE		2.755	medium	getma.org/?cm=msa&ty=f&p=PEG3_HUMAN&rb=1086&re=1152&var=G1113S	getma.org/pdb.php?prot=PEG3_HUMAN&from=1106&to=1132&var=G1113S	getma.org/?cm=var&var=hg19,19,57326473,C,T&fts=all	G1113S	--	--	1																																		ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G1084S|PEG3_uc002qnv.2_Missense_Mutation_p.G1113S|PEG3_uc002qnw.2_Missense_Mutation_p.G989S|PEG3_uc002qnx.2_Missense_Mutation_p.G987S|PEG3_uc010etr.2_Missense_Mutation_p.G1113S	0,1,1	1		probably_damaging(1)	p.G1113S	NM_001146186	NP_001139658		tolerated(0.05)	0,1,1	PEG3_HUMAN	PEG3	HGNC	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	M0QXG1_HUMAN		7	3688	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	UPI000006D36D	1113			C2H2-type 6.		SNV	PEG3,missense_variant,p.Gly1113Ser,ENST00000326441,NM_006210.2;PEG3,missense_variant,p.Gly1113Ser,ENST00000423103,NM_001146184.1;PEG3,missense_variant,p.Gly989Ser,ENST00000598410,NM_001146185.1,NM_001146187.1;PEG3,missense_variant,p.Gly1113Ser,ENST00000599534,NM_001146186.1;PEG3,missense_variant,p.Gly1113Ser,ENST00000599577,;PEG3,missense_variant,p.Gly987Ser,ENST00000593695,;ZIM2,intron_variant,,ENST00000391708,NM_001146327.1,NM_001146326.1;ZIM2,intron_variant,,ENST00000599935,;ZIM2,intron_variant,,ENST00000221722,NM_015363.4;ZIM2,intron_variant,,ENST00000593711,;ZIM2,intron_variant,,ENST00000601070,;PEG3,downstream_gene_variant,,ENST00000600833,;PEG3,upstream_gene_variant,,ENST00000599565,;ZIM2,intron_variant,,ENST00000595671,;ZIM2,intron_variant,,ENST00000597281,;	uc002qnu.2	c.3337G>A	3701/8723	2	2			c.3337G>A						19	SNP	c.(3337-3339)GGC>AGC	34	34			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12	Broad	paternally expressed 3 isoform 1			57326473		0.488	ENSG00000198300	11526	g.chr19:57326473C>T	apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							278.231569	KEEP	53	65	-1	182	172	53	65	-1	303.206675	182	172	0.251685	1	0	0	0	0	1	0	0	0	--	--		0	T			ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G1084S|PEG3_uc002qnv.2_Missense_Mutation_p.G1113S|PEG3_uc002qnw.2_Missense_Mutation_p.G989S|PEG3_uc002qnx.2_Missense_Mutation_p.G987S|PEG3_uc010etr.2_Missense_Mutation_p.G1113S	218	GBM-28-5209-TP	p.G1113S	C	AAGCCCAGGCCACAGTCCTCA	NM_001146186	NP_001139658	57326473	Q9GZU2	PEG3_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0269)	7	3688	-	T	T		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	Missense_Mutation	1113			C2H2-type 6.			
PEG3	0	broad.mit.edu	GRCh37	19	57327945	57327945	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-28-6450-01	TCGA-28-6450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326441.9:c.1865G>C	p.Gly622Ala	p.G622A	ENST00000326441	NM_006210.2	622	gGt/gCt	0			1			G	G/A	uc002qnu.2	protein_coding	YES	CCDS12948.1			1865/4767									ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12	c.(1864-1866)GGT>GCT			hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF78,Superfamily_domains:SSF57667	paternally expressed 3 isoform 1				ENSP00000326581		10-Oct									COSM3404690,COSM3404691	10-Oct	.		ENST00000326441	Transcript			apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000198300	g.chr19:57327945C>G	8826			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=PEG3_HUMAN&rb=586&re=626&var=G622A	NA	getma.org/?cm=var&var=hg19,19,57327945,C,G&fts=all	G622A	--	--	1																																		ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G593A|PEG3_uc002qnv.2_Missense_Mutation_p.G622A|PEG3_uc002qnw.2_Missense_Mutation_p.G498A|PEG3_uc002qnx.2_Missense_Mutation_p.G496A|PEG3_uc010etr.2_Missense_Mutation_p.G622A	1,1	1		benign(0.034)	p.G622A	NM_001146186	NP_001139658		tolerated(0.55)	1,1	PEG3_HUMAN	PEG3	HGNC	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	M0QXG1_HUMAN		7	2216	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	UPI000006D36D	622					SNV	PEG3,missense_variant,p.Gly622Ala,ENST00000326441,NM_006210.2;PEG3,missense_variant,p.Gly622Ala,ENST00000423103,NM_001146184.1;PEG3,missense_variant,p.Gly498Ala,ENST00000598410,NM_001146185.1,NM_001146187.1;PEG3,missense_variant,p.Gly622Ala,ENST00000599534,NM_001146186.1;PEG3,missense_variant,p.Gly622Ala,ENST00000599577,;PEG3,missense_variant,p.Gly496Ala,ENST00000593695,;ZIM2,intron_variant,,ENST00000391708,NM_001146327.1,NM_001146326.1;ZIM2,intron_variant,,ENST00000599935,;ZIM2,intron_variant,,ENST00000221722,NM_015363.4;ZIM2,intron_variant,,ENST00000593711,;ZIM2,intron_variant,,ENST00000601070,;PEG3,downstream_gene_variant,,ENST00000600833,;ZIM2,intron_variant,,ENST00000595671,;ZIM2,intron_variant,,ENST00000597281,;	uc002qnu.2	c.1865G>C	2229/8723	3	3			c.1865G>C						19	SNP	c.(1864-1866)GGT>GCT	59	59			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12	Broad	paternally expressed 3 isoform 1			57327945		0.363	ENSG00000198300	11526	g.chr19:57327945C>G	apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							79.883987	KEEP	5	19	-1	13	31	5	19	-1	80.963047	13	31	0.363636	1	0	0	0	0	1	0	0	0	--	--		0	G			ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G593A|PEG3_uc002qnv.2_Missense_Mutation_p.G622A|PEG3_uc002qnw.2_Missense_Mutation_p.G498A|PEG3_uc002qnx.2_Missense_Mutation_p.G496A|PEG3_uc010etr.2_Missense_Mutation_p.G622A	227	GBM-28-6450-TP	p.G622A	C	TTTCTCTTTACCATACATTTT	NM_001146186	NP_001139658	57327945	Q9GZU2	PEG3_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0269)	7	2216	-	G	G		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	Missense_Mutation	622						
PEG3	5178		GRCh37	19	57325278	57325278	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000326441.9:c.4532C>G	p.Thr1511Arg	p.T1511R	ENST00000326441	NM_006210.2	1511	aCa/aGa	0																																																																																																																																																																																																																																												
PELI1	57162		GRCh37	2	64323378	64323378	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000358912.4:c.571A>G	p.Met191Val	p.M191V	ENST00000358912	NM_020651.3	191	Atg/Gtg	0																																																																																																																																																																																																																																												
PEPD	5184	broad.mit.edu	GRCh37	19	33892682	33892682	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0132-01	TCGA-06-0132-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000244137.7:c.912C>T	p.Ala304=	p.A304=	ENST00000244137	NM_000285.3	304	gcC/gcT	0	A:0		1			A	A	uc002nur.3	protein_coding	YES	CCDS42544.1			912/1482									ovary(2)	2	c.(910-912)GCC>GCT			Gene3D:3.90.230.10,Pfam_domain:PF00557,hmmpanther:PTHR10804,hmmpanther:PTHR10804:SF17,Superfamily_domains:SSF55920	prolidase isoform 1			A:0.0001	ENSP00000244137		15-Dec	3.31E-05		0.000108			5.51E-05			rs199621901,COSM3404091	15-Dec	.		ENST00000244137	Transcript	1		cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity	ENSG00000124299	g.chr19:33892682G>A	8840			LOW								--	--	1																																		PEPD_uc010xrr.1_Silent_p.A263A|PEPD_uc010xrs.1_Silent_p.A240A	0,1	1			p.A304A	NM_000285	NP_000276			0,1	PEPD_HUMAN	PEPD	HGNC	P12955	PEPD_HUMAN			K7EQ51_HUMAN		12	1047	-	Esophageal squamous(110;0.137)		UPI000006F8BF	304					SNV	PEPD,synonymous_variant,p.=,ENST00000244137,NM_000285.3;PEPD,synonymous_variant,p.=,ENST00000397032,NM_001166056.1;PEPD,synonymous_variant,p.=,ENST00000436370,NM_001166057.1;PEPD,synonymous_variant,p.=,ENST00000588328,;PEPD,downstream_gene_variant,,ENST00000609145,;PEPD,downstream_gene_variant,,ENST00000590731,;PEPD,downstream_gene_variant,,ENST00000588719,;PEPD,downstream_gene_variant,,ENST00000593163,;	uc002nur.3	c.912C>T	946/1910	1	1			c.912C>T						19	SNP	c.(910-912)GCC>GCT	50	50			ovary(2)	2	Broad	prolidase isoform 1			33892682		0.627	ENSG00000124299	11534	g.chr19:33892682G>A	cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity							2.103926	KEEP	3	2	-1	20	13	3	2	-1	7.152774	20	13	0.096774	1	0	0	0	0	0	0	1	0	--	--		0	A			PEPD_uc010xrr.1_Silent_p.A263A|PEPD_uc010xrs.1_Silent_p.A240A	17	GBM-06-0132-TP	p.A304A	G	CCTCATAGACGGCCTTCTGGT	NM_000285	NP_000276	33892682	P12955	PEPD_HUMAN	0			12	1047	-	A	A	Esophageal squamous(110;0.137)		Silent	304						
PER1	0	broad.mit.edu	GRCh37	17	8053154	8053154	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-2554-01	TCGA-14-2554-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317276.4:c.570C>T	p.Gly190=	p.G190=	ENST00000317276	NM_002616.2	190	ggC/ggT	0			1			A	G	uc002gkd.2	protein_coding	YES	CCDS11131.1			570/3873	T		ETV6		AML|CMML				lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9	c.(568-570)GGC>GGT		Other_conserved_DNA_damage_response_genes	hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF8	period 1				ENSP00000314420		23-May	2.47E-05					4.50E-05			rs755841710,COSM3403390	23-May	.		ENST00000317276	Transcript			circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	ENSG00000179094	g.chr17:8053154G>A	8845			LOW								--	--	1																																		PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Silent_p.G174G|PER1_uc010vus.1_Silent_p.G190G	0,1	1			p.G190G	NM_002616	NP_002607			0,1	PER1_HUMAN	PER1	HGNC	O15534	PER1_HUMAN			J3QLQ5_HUMAN,A2I2P6_HUMAN		5	808	-			UPI000013FFF5	190					SNV	PER1,synonymous_variant,p.=,ENST00000317276,NM_002616.2;PER1,synonymous_variant,p.=,ENST00000581082,;PER1,synonymous_variant,p.=,ENST00000354903,;PER1,downstream_gene_variant,,ENST00000577253,;PER1,downstream_gene_variant,,ENST00000584202,;PER1,downstream_gene_variant,,ENST00000581703,;PER1,upstream_gene_variant,,ENST00000583559,;RP11-599B13.6,downstream_gene_variant,,ENST00000498285,;PER1,upstream_gene_variant,,ENST00000578089,;PER1,synonymous_variant,p.=,ENST00000582719,;PER1,synonymous_variant,p.=,ENST00000581395,;PER1,non_coding_transcript_exon_variant,,ENST00000579065,;PER1,upstream_gene_variant,,ENST00000578223,;PER1,upstream_gene_variant,,ENST00000585095,;PER1,upstream_gene_variant,,ENST00000577424,;PER1,upstream_gene_variant,,ENST00000579203,;PER1,upstream_gene_variant,,ENST00000578950,;	uc002gkd.2	c.570C>T	808/4707	2	2			c.570C>T	T		ETV6		AML|CMML	17	SNP	c.(568-570)GGC>GGT	30	30			lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9	Broad	period 1	Other_conserved_DNA_damage_response_genes		8053154		0.602	ENSG00000179094	11535	g.chr17:8053154G>A	circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			239			239	-71.049456	KEEP	7	5	-1	214	198	7	5	-1	17.416396	214	198	0.030055	1	0	0	0	0	0	0	1	0	--	--		0	A			PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Silent_p.G174G|PER1_uc010vus.1_Silent_p.G190G	150	GBM-14-2554-TP	p.G190G	G	AGCAAGGCTCGCCCTCCTCCA	NM_002616	NP_002607	8053154	O15534	PER1_HUMAN	0			5	808	-	A	A			Silent	190						
PER1	5187		GRCh37	17	8048179	8048179	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000317276.4:c.2351C>T	p.Ser784Phe	p.S784F	ENST00000317276	NM_002616.2	784	tCc/tTc	0																																																																																																																																																																																																																																												
PER2	0	broad.mit.edu	GRCh37	2	239157759	239157759	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1456-01	TCGA-14-1456-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254657.3:c.3562C>T	p.Arg1188Cys	p.R1188C	ENST00000254657	NM_022817.2	1188	Cgc/Tgc	0			1			A	R/C	uc002vyc.2	protein_coding	YES	CCDS2528.1			3562/3768									upper_aerodigestive_tract(1)|breast(1)	2	c.(3562-3564)CGC>TGC			Gene3D:3.30.450.20,Pfam_domain:PF12114,hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF9	period 2				ENSP00000254657		22/23	1.65E-05				0.000151	1.50E-05			rs748810685,COSM2155631	22/23	.		ENST00000254657	Transcript	1		circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	ENSG00000132326	g.chr2:239157759G>A	8846			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=PER2_HUMAN&rb=1046&re=1235&var=R1188C	NA	getma.org/?cm=var&var=hg19,2,239157759,G,A&fts=all	R1188C	--	--	1																																		PER2_uc010znv.1_Missense_Mutation_p.R1188C	0,1	1		benign(0.027)	p.R1188C	NM_022817	NP_073728		tolerated(0.2)	0,1	PER2_HUMAN	PER2	HGNC	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	Q6DT41_HUMAN,E9PD89_HUMAN		22	3799	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	UPI000013161D	1188			CRY binding domain (By similarity).		SNV	PER2,missense_variant,p.Arg1188Cys,ENST00000254657,NM_022817.2;PER2,3_prime_UTR_variant,,ENST00000254658,;AC096574.4,intron_variant,,ENST00000456601,;	uc002vyc.2	c.3562C>T	3842/6385	1	1			c.3562C>T						2	SNP	c.(3562-3564)CGC>TGC	59	59			upper_aerodigestive_tract(1)|breast(1)	2	Broad	period 2			239157759		0.567	ENSG00000132326	11536	g.chr2:239157759G>A	circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity							417.611385	KEEP	89	88	-1	120	126	89	88	-1	419.14732	120	126	0.4273	1	0	0	0	0	1	0	0	0	--	--		0	A			PER2_uc010znv.1_Missense_Mutation_p.R1188C	146	GBM-14-1456-TP	p.R1188C	G	TGGACCTCGCGCAGCTCCTGC	NM_022817	NP_073728	239157759	O15055	PER2_HUMAN	0		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	22	3799	-	A	A		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	Missense_Mutation	1188			CRY binding domain (By similarity).			
PER3	8863	broad.mit.edu	GRCh37	1	7845640	7845640	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01	TCGA-06-0241-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361923.2:c.268G>A	p.Val90Ile	p.V90I	ENST00000361923	NM_016831.1	90	Gtt/Att	0			1			A	V/I	uc001aoo.2	protein_coding	YES	CCDS89.1			268/3606									ovary(1)|pancreas(1)|skin(1)	3	c.(268-270)GTT>ATT			hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF13	period 3				ENSP00000355031		21-Feb									COSM3401020	21-Feb	.		ENST00000361923	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	ENSG00000049246	g.chr1:7845640G>A	8847			MODERATE		2.295	medium	getma.org/?cm=msa&ty=f&p=PER3_HUMAN&rb=1&re=200&var=V90I	NA	getma.org/?cm=var&var=hg19,1,7845640,G,A&fts=all	V90I	--	--	1																																		PER3_uc009vmg.1_Missense_Mutation_p.V90I|PER3_uc009vmh.1_Missense_Mutation_p.V90I|PER3_uc001aop.2_Missense_Mutation_p.V90I|PER3_uc010nzw.1_5'UTR|PER3_uc001aon.2_Missense_Mutation_p.V90I	1	1		benign(0.433)	p.V90I	NM_016831	NP_058515		deleterious(0.03)	1	PER3_HUMAN	PER3	HGNC	P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	Q8TAR6_HUMAN,B4DR65_HUMAN,A2I2N5_HUMAN		2	443	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	UPI0000167B1D	90					SNV	PER3,missense_variant,p.Val90Ile,ENST00000377532,;PER3,missense_variant,p.Val90Ile,ENST00000361923,NM_016831.1;PER3,missense_variant,p.Val90Ile,ENST00000377541,;VAMP3,downstream_gene_variant,,ENST00000054666,NM_004781.3;PER3,non_coding_transcript_exon_variant,,ENST00000473653,;PER3,upstream_gene_variant,,ENST00000602883,;	uc001aoo.2	c.268G>A	443/6203	2	2			c.268G>A						1	SNP	c.(268-270)GTT>ATT	48	48			ovary(1)|pancreas(1)|skin(1)	3	Broad	period 3			7845640		0.483	ENSG00000049246	11537	g.chr1:7845640G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity							-11.266211	KEEP	1	3	-1	43	53	1	3	-1	7.312106	43	53	0.047059	1	0	0	0	0	1	0	0	0	--	--		0	A			PER3_uc009vmg.1_Missense_Mutation_p.V90I|PER3_uc009vmh.1_Missense_Mutation_p.V90I|PER3_uc001aop.2_Missense_Mutation_p.V90I|PER3_uc010nzw.1_5'UTR|PER3_uc001aon.2_Missense_Mutation_p.V90I	57	GBM-06-0241-TP	p.V90I	G	TGTCCACAGCGTTCAAGGTAA	NM_016831	NP_058515	7845640	P56645	PER3_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	2	443	+	A	A	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	90						
PER3	0	broad.mit.edu	GRCh37	1	7880644	7880644	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2518-01	TCGA-27-2518-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361923.2:c.1877G>A	p.Gly626Asp	p.G626D	ENST00000361923	NM_016831.1	626	gGc/gAc	0			1			A	G/D	uc001aoo.2	protein_coding	YES	CCDS89.1			1877/3606									ovary(1)|pancreas(1)|skin(1)	3	c.(1876-1878)GGC>GAC			hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF13	period 3				ENSP00000355031		15/21									COSM3401022	15/21	.		ENST00000361923	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	ENSG00000049246	g.chr1:7880644G>A	8847			MODERATE		0.49	neutral	getma.org/?cm=msa&ty=f&p=PER3_HUMAN&rb=575&re=774&var=G626D	NA	getma.org/?cm=var&var=hg19,1,7880644,G,A&fts=all	G626D	--	--	1																																		PER3_uc009vmg.1_Missense_Mutation_p.G634D|PER3_uc009vmh.1_Missense_Mutation_p.G627D|PER3_uc001aop.2_Missense_Mutation_p.G634D|PER3_uc010nzw.1_Missense_Mutation_p.G315D	1	1		probably_damaging(0.959)	p.G626D	NM_016831	NP_058515		tolerated(0.1)	1	PER3_HUMAN	PER3	HGNC	P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	Q8TAR6_HUMAN,B4DR65_HUMAN,A2I2N5_HUMAN		15	2052	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	UPI0000167B1D	626			CSNK1E binding domain (By similarity).		SNV	PER3,missense_variant,p.Gly634Asp,ENST00000377532,;PER3,missense_variant,p.Gly626Asp,ENST00000361923,NM_016831.1;RP3-467L1.4,intron_variant,,ENST00000451646,;	uc001aoo.2	c.1877G>A	2052/6203	2	2			c.1877G>A						1	SNP	c.(1876-1878)GGC>GAC	45	45			ovary(1)|pancreas(1)|skin(1)	3	Broad	period 3			7880644		0.512	ENSG00000049246	11537	g.chr1:7880644G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity							-1.50798	KEEP	1	2	-1	19	29	1	2	-1	6.440668	19	29	0.071429	1	0	0	0	0	1	0	0	0	--	--		0	A			PER3_uc009vmg.1_Missense_Mutation_p.G634D|PER3_uc009vmh.1_Missense_Mutation_p.G627D|PER3_uc001aop.2_Missense_Mutation_p.G634D|PER3_uc010nzw.1_Missense_Mutation_p.G315D	198	GBM-27-2518-TP	p.G626D	G	TTGGGGTCGGGCATAAGCCAA	NM_016831	NP_058515	7880644	P56645	PER3_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	15	2052	+	A	A	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	626			CSNK1E binding domain (By similarity).			
PERP	64065		GRCh37	6	138417591	138417591	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000421351.3:c.255C>T	p.Phe85=	p.F85=	ENST00000421351	NM_022121.4	85	ttC/ttT	0																																																																																																																																																																																																																																												
PET112	0	broad.mit.edu	GRCh37	4	152592379	152592379	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-26-5133-01	TCGA-26-5133-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263985.6:c.1621C>T	p.Arg541Ter	p.R541*	ENST00000263985	NM_004564.2	541	Cga/Tga	0			1			A	R/*	uc003iml.2	protein_coding	YES	CCDS3776.1			1621/1674										0	c.(1621-1623)CGA>TGA			HAMAP:MF_00121,hmmpanther:PTHR11659,hmmpanther:PTHR11659:SF0,Pfam_domain:PF02637,TIGRFAM_domain:TIGR00133,SMART_domains:SM00845	PET112-like precursor	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)			ENSP00000263985		13/13	2.47E-05					3.00E-05		6.06E-05	rs775978518,COSM3409090	13/13	.		ENST00000263985	Transcript				mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding	ENSG00000059691	g.chr4:152592379G>A	8849			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,4,152592379,G,A&fts=all	R541*	--	--	1																																		PET112L_uc003imk.2_RNA	0,1	1			p.R541*	NM_004564	NP_004555			0,1	GATB_HUMAN	PET112	HGNC	O75879	GATB_HUMAN					13	1633	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	UPI000012B14C	541					SNV	PET112,stop_gained,p.Arg541Ter,ENST00000263985,NM_004564.2;PET112,stop_gained,p.Arg500Ter,ENST00000515812,;RP11-164P12.3,upstream_gene_variant,,ENST00000514269,;RP11-164P12.4,downstream_gene_variant,,ENST00000508664,;PET112,non_coding_transcript_exon_variant,,ENST00000507592,;PET112,non_coding_transcript_exon_variant,,ENST00000513504,;PET112,3_prime_UTR_variant,,ENST00000503160,;PET112,3_prime_UTR_variant,,ENST00000510720,;PET112,non_coding_transcript_exon_variant,,ENST00000515564,;PET112,non_coding_transcript_exon_variant,,ENST00000510396,;	uc003iml.2	c.1621C>T	1662/2385	5	2			c.1621C>T						4	SNP	c.(1621-1623)CGA>TGA	46	46				0	Broad	PET112-like precursor		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	152592379		0.453	ENSG00000059691	11540	g.chr4:152592379G>A		mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding							-56.687666	KEEP	1	5	-1	152	132	1	5	-1	10.921046	152	132	0.022556	1	0	0	0	0	0	1	0	0	--	--		0	A			PET112L_uc003imk.2_RNA	182	GBM-26-5133-TP	p.R541*	G	GGATCTGCTCGGCTTTGAGTC	NM_004564	NP_004555	152592379	O75879	GATB_HUMAN	0			13	1633	-	A	A	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	Nonsense_Mutation	541						
PET112	0	broad.mit.edu	GRCh37	4	152680061	152680061	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2615-01	TCGA-32-2615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263985.6:c.190G>A	p.Ala64Thr	p.A64T	ENST00000263985	NM_004564.2	64	Gct/Act	0			1			T	A/T	uc003iml.2	protein_coding	YES	CCDS3776.1			190/1674										0	c.(190-192)GCT>ACT			HAMAP:MF_00121,hmmpanther:PTHR11659,hmmpanther:PTHR11659:SF0,TIGRFAM_domain:TIGR00133	PET112-like precursor	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)			ENSP00000263985		13-Feb									COSM3409091	13-Feb	.		ENST00000263985	Transcript				mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding	ENSG00000059691	g.chr4:152680061C>T	8849			MODERATE		0.11	neutral	getma.org/?cm=msa&ty=f&p=GATB_HUMAN&rb=64&re=354&var=A64T	NA	getma.org/?cm=var&var=hg19,4,152680061,C,T&fts=all	A64T	--	--	1																																		PET112L_uc003imm.3_Missense_Mutation_p.A64T	1	1		benign(0.021)	p.A64T	NM_004564	NP_004555		tolerated(0.38)	1	GATB_HUMAN	PET112	HGNC	O75879	GATB_HUMAN					2	202	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	UPI000012B14C	64					SNV	PET112,missense_variant,p.Ala64Thr,ENST00000263985,NM_004564.2;PET112,missense_variant,p.Ala64Thr,ENST00000515812,;PET112,missense_variant,p.Ala64Thr,ENST00000512306,;PET112,missense_variant,p.Ala64Thr,ENST00000508611,;PET112,missense_variant,p.Ala47Thr,ENST00000503160,;PET112,missense_variant,p.Ala60Thr,ENST00000511538,;PET112,missense_variant,p.Ala55Thr,ENST00000515884,;	uc003iml.2	c.190G>A	231/2385	1	1			c.190G>A						4	SNP	c.(190-192)GCT>ACT	9	9				0	Broad	PET112-like precursor		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	152680061		0.363	ENSG00000059691	11540	g.chr4:152680061C>T		mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding							138.721231	KEEP	21	30	-1	33	57	21	30	-1	140.245469	33	57	0.380165	1	0	0	0	0	1	0	0	0	--	--		0	T			PET112L_uc003imm.3_Missense_Mutation_p.A64T	239	GBM-32-2615-TP	p.A64T	C	ACCACAGCAGCCCATTTGTGT	NM_004564	NP_004555	152680061	O75879	GATB_HUMAN	0			2	202	-	T	T	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	Missense_Mutation	64						
PEX1	0	broad.mit.edu	GRCh37	7	92120719	92120719	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-0817-01	TCGA-14-0817-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000248633.4:c.3305G>T	p.Cys1102Phe	p.C1102F	ENST00000248633	NM_000466.2	1102	tGt/tTt	0			1			A	C/F	uc003uly.2	protein_coding	YES	CCDS5627.1			3305/3852									ovary(1)|central_nervous_system(1)	2	c.(3304-3306)TGT>TTT			hmmpanther:PTHR23077:SF12,hmmpanther:PTHR23077	peroxin1				ENSP00000248633		21/24									COSM2154785	21/24	.		ENST00000248633	Transcript	1		microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	ENSG00000127980	g.chr7:92120719C>A	8850			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=PEX1_HUMAN&rb=1008&re=1207&var=C1102F	NA	getma.org/?cm=var&var=hg19,7,92120719,C,A&fts=all	C1102F	--	--	1																																		PEX1_uc011khr.1_Missense_Mutation_p.C894F|PEX1_uc010ley.2_Missense_Mutation_p.C1045F|PEX1_uc011khs.1_Missense_Mutation_p.C780F	1	1		benign(0.035)	p.C1102F	NM_000466	NP_000457		tolerated(0.31)	1	PEX1_HUMAN	PEX1	HGNC	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		Q96S70_HUMAN,Q96S69_HUMAN,B4DER6_HUMAN		21	3401	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	UPI0000001C39	1102					SNV	PEX1,missense_variant,p.Cys1102Phe,ENST00000248633,NM_000466.2;PEX1,missense_variant,p.Cys1045Phe,ENST00000428214,NM_001282677.1;PEX1,missense_variant,p.Cys780Phe,ENST00000438045,;AC007566.10,non_coding_transcript_exon_variant,,ENST00000427458,;AC007566.10,non_coding_transcript_exon_variant,,ENST00000441539,;PEX1,non_coding_transcript_exon_variant,,ENST00000496420,;PEX1,non_coding_transcript_exon_variant,,ENST00000484913,;PEX1,upstream_gene_variant,,ENST00000477342,;PEX1,upstream_gene_variant,,ENST00000469417,;	uc003uly.2	c.3305G>T	3401/4385	2	2			c.3305G>T						7	SNP	c.(3304-3306)TGT>TTT	33	33			ovary(1)|central_nervous_system(1)	2	Broad	peroxin1			92120719		0.428	ENSG00000127980	11541	g.chr7:92120719C>A	microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding							329.264561	KEEP	56	66	0.540983607	136	144	56	66	0.540983607	340.704947	136	144	0.311111	1	0	0	0	0	1	0	0	0	--	--		0	A			PEX1_uc011khr.1_Missense_Mutation_p.C894F|PEX1_uc010ley.2_Missense_Mutation_p.C1045F|PEX1_uc011khs.1_Missense_Mutation_p.C780F	139	GBM-14-0817-TP	p.C1102F	C	ATCTAAGCCACATTCTCCATC	NM_000466	NP_000457	92120719	O43933	PEX1_HUMAN	0	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		21	3401	-	A	A	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	Missense_Mutation	1102						
PEX1	0	broad.mit.edu	GRCh37	7	92147239	92147239	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-14-1043-01	TCGA-14-1043-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000248633.4:c.590A>G	p.Lys197Arg	p.K197R	ENST00000248633	NM_000466.2	197	aAa/aGa	0			1			C	K/R	uc003uly.2	protein_coding	YES	CCDS5627.1			590/3852									ovary(1)|central_nervous_system(1)	2	c.(589-591)AAA>AGA			hmmpanther:PTHR23077:SF12,hmmpanther:PTHR23077	peroxin1				ENSP00000248633		24-May									COSM3412473	24-May	.		ENST00000248633	Transcript	1		microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	ENSG00000127980	g.chr7:92147239T>C	8850			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=PEX1_HUMAN&rb=180&re=379&var=K197R	NA	getma.org/?cm=var&var=hg19,7,92147239,T,C&fts=all	K197R	--	--	1																																		PEX1_uc011khr.1_5'UTR|PEX1_uc010ley.2_Missense_Mutation_p.K197R|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA	1	1		benign(0.001)	p.K197R	NM_000466	NP_000457		tolerated(0.48)	1	PEX1_HUMAN	PEX1	HGNC	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		Q96S70_HUMAN,Q96S69_HUMAN,B4DER6_HUMAN		5	686	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	UPI0000001C39	197					SNV	PEX1,missense_variant,p.Lys197Arg,ENST00000248633,NM_000466.2;PEX1,missense_variant,p.Lys197Arg,ENST00000428214,NM_001282677.1;PEX1,intron_variant,,ENST00000438045,;PEX1,upstream_gene_variant,,ENST00000541751,;PEX1,non_coding_transcript_exon_variant,,ENST00000484913,;PEX1,upstream_gene_variant,,ENST00000422866,;PEX1,upstream_gene_variant,,ENST00000476923,;	uc003uly.2	c.590A>G	686/4385	4	4			c.590A>G						7	SNP	c.(589-591)AAA>AGA	41	41			ovary(1)|central_nervous_system(1)	2	Broad	peroxin1			92147239		0.388	ENSG00000127980	11541	g.chr7:92147239T>C	microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding							47.730877	KEEP	10	8	-1	39	41	10	8	-1	54.84111	39	41	0.2	1	0	0	0	0	1	0	0	0	--	--		0	C			PEX1_uc011khr.1_5'UTR|PEX1_uc010ley.2_Missense_Mutation_p.K197R|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA	143	GBM-14-1043-TP	p.K197R	T	ATGAAGTTTTTTATATTCAGC	NM_000466	NP_000457	92147239	O43933	PEX1_HUMAN	0	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		5	686	-	C	C	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	Missense_Mutation	197						
PEX1	0	broad.mit.edu	GRCh37	7	92146721	92146721	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-27-1834-01	TCGA-27-1834-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000248633.4:c.1108delA	p.Ile370LeufsTer17	p.I370Lfs*17	ENST00000248633	NM_000466.2	370	Att/tt	0			1			-	I/X	uc003uly.2	protein_coding	YES	CCDS5627.1			1108/3852									ovary(1)|central_nervous_system(1)	2	c.(1108-1110)ATTfs			hmmpanther:PTHR23077:SF12,hmmpanther:PTHR23077	peroxin1				ENSP00000248633		24-May	0.00349	0.00203	0.00104	0.00268		0.00456	0.00223	0.000183	rs755998864,COSM404963	24-May	common_variant		ENST00000248633	Transcript	1		microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	ENSG00000127980	g.chr7:92146721delT	8850			HIGH								--	--	1																																		PEX1_uc011khr.1_Frame_Shift_Del_p.I162fs|PEX1_uc010ley.2_Frame_Shift_Del_p.I370fs|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA	0,1	1			p.I370fs	NM_000466	NP_000457			0,1	PEX1_HUMAN	PEX1	HGNC	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		Q96S70_HUMAN,Q96S69_HUMAN,B4DER6_HUMAN		5	1204	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	UPI0000001C39	370					deletion	PEX1,frameshift_variant,p.Ile370LeufsTer17,ENST00000248633,NM_000466.2;PEX1,frameshift_variant,p.Ile370LeufsTer17,ENST00000428214,NM_001282677.1;PEX1,5_prime_UTR_variant,,ENST00000541751,;PEX1,intron_variant,,ENST00000438045,;PEX1,frameshift_variant,p.Ile4LeufsTer17,ENST00000422866,;PEX1,non_coding_transcript_exon_variant,,ENST00000484913,;PEX1,upstream_gene_variant,,ENST00000476923,;	uc003uly.2	c.1108delA	1204/4385	5	5			c.1108delA						7	DEL	c.(1108-1110)ATTfs	2	2			ovary(1)|central_nervous_system(1)	2	Broad	peroxin1			92146721		0.353	ENSG00000127980	11541	g.chr7:92146721delT	microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding																				0.01	1	1	0	1	0	0	0	0	0	--	--		0	-			PEX1_uc011khr.1_Frame_Shift_Del_p.I162fs|PEX1_uc010ley.2_Frame_Shift_Del_p.I370fs|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA	193	GBM-27-1834-TP	p.I370fs	T	TCTGACCTAATTTTTTTTTGA	NM_000466	NP_000457	92146721	O43933	PEX1_HUMAN	0	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		5	1204	-	-	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	Frame_Shift_Del	370						
PEX11A	8800	broad.mit.edu	GRCh37	15	90226684	90226684	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0152-01	TCGA-06-0152-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300056.3:c.668G>A	p.Gly223Glu	p.G223E	ENST00000300056	NM_001271572.1	223	gGa/gAa	0			1			T	G/E	uc002boi.2	protein_coding	YES	CCDS10354.1			668/744										0	c.(667-669)GGA>GAA			Pfam_domain:PF05648,hmmpanther:PTHR12652,hmmpanther:PTHR12652:SF22,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	peroxisomal biogenesis factor 11 alpha				ENSP00000300056		3-Mar									COSM2149841	3-Mar	.		ENST00000300056	Transcript			cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane		ENSG00000166821	g.chr15:90226684C>T	8852			MODERATE		2.845	medium	getma.org/?cm=msa&ty=f&p=PX11A_HUMAN&rb=1&re=238&var=G223E	NA	getma.org/?cm=var&var=hg19,15,90226684,C,T&fts=all	G223E	--	--	1																																		PEX11A_uc010upy.1_RNA	1	1		probably_damaging(0.999)	p.G223E	NM_003847	NP_003838		deleterious(0)	1	PX11A_HUMAN	PEX11A	HGNC	O75192	PX11A_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		B4DMF6_HUMAN,B2R8C6_HUMAN		3	763	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		UPI0000074027	223			Helical; (Potential).		SNV	PEX11A,missense_variant,p.Gly223Glu,ENST00000300056,NM_001271572.1,NM_003847.2,NM_001271573.1;PEX11A,missense_variant,p.Gly192Glu,ENST00000561257,;PEX11A,3_prime_UTR_variant,,ENST00000559170,;PEX11A,intron_variant,,ENST00000561224,;PLIN1,upstream_gene_variant,,ENST00000300055,NM_002666.4;PLIN1,upstream_gene_variant,,ENST00000430628,NM_001145311.1;PEX11A,intron_variant,,ENST00000557982,;PLIN1,upstream_gene_variant,,ENST00000531697,;RPL36AP43,downstream_gene_variant,,ENST00000460165,;	uc002boi.2	c.668G>A	818/2740	2	2			c.668G>A						15	SNP	c.(667-669)GGA>GAA	17	17				0	Broad	peroxisomal biogenesis factor 11 alpha			90226684		0.483	ENSG00000166821	11543	g.chr15:90226684C>T	cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane								606.718341	KEEP	116	101	-1	199	187	116	101	-1	615.350228	199	187	0.367384	1	0	0	0	0	1	0	0	0	--	--		0	T			PEX11A_uc010upy.1_RNA	25	GBM-06-0152-TP	p.G223E	C	ACCTCCAAGTCCAATGATGCC	NM_003847	NP_003838	90226684	O75192	PX11A_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		3	763	-	T	T	Lung NSC(78;0.0237)|all_lung(78;0.0478)		Missense_Mutation	223			Helical; (Potential).			
PEX11B	0	broad.mit.edu	GRCh37	1	145517332	145517332	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6698-01	TCGA-06-6698-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369306.3:c.116C>T	p.Pro39Leu	p.P39L	ENST00000369306	NM_003846.2	39	cCt/cTt	0			1			T	P/L	uc001eny.1	protein_coding	YES	CCDS917.1			116/780										0	c.(115-117)CCT>CTT			Pfam_domain:PF05648,hmmpanther:PTHR12652,hmmpanther:PTHR12652:SF7	peroxisomal biogenesis factor 11 beta				ENSP00000358312		4-Feb									COSM3399668	4-Feb	.		ENST00000369306	Transcript	1		peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding	ENSG00000131779	g.chr1:145517332C>T	8853			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=PX11B_HUMAN&rb=1&re=251&var=P39L	NA	getma.org/?cm=var&var=hg19,1,145517332,C,T&fts=all	P39L	--	--	1																																		NBPF10_uc001emp.3_Intron|GNRHR2_uc009wiv.1_5'Flank|GNRHR2_uc010oyt.1_5'Flank|GNRHR2_uc001enx.2_5'Flank|PEX11B_uc010oyu.1_Missense_Mutation_p.P25L	1	1		benign(0.023)	p.P39L	NM_003846	NP_003837		tolerated(0.15)	1	PX11B_HUMAN	PEX11B	HGNC	O96011	PX11B_HUMAN			H7C3V6_HUMAN,B3KSS3_HUMAN		2	134	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		UPI0000073D3A	39					SNV	PEX11B,missense_variant,p.Pro39Leu,ENST00000369306,NM_003846.2;PEX11B,missense_variant,p.Pro25Leu,ENST00000537888,NM_001184795.1;RBM8A,downstream_gene_variant,,ENST00000330165,NM_005105.4;GNRHR2,upstream_gene_variant,,ENST00000312753,;GNRHR2,upstream_gene_variant,,ENST00000604273,;GNRHR2,upstream_gene_variant,,ENST00000361928,;GNRHR2,upstream_gene_variant,,ENST00000469718,;GNRHR2,upstream_gene_variant,,ENST00000581100,;	uc001eny.1	c.116C>T	265/1740	2	2			c.116C>T						1	SNP	c.(115-117)CCT>CTT	21	21				0	Broad	peroxisomal biogenesis factor 11 beta			145517332		0.537	ENSG00000131779	11544	g.chr1:145517332C>T	peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding							-14.888509	KEEP	3	2	-1	65	56	3	2	-1	8.766327	65	56	0.038835	1	0	0	0	0	1	0	0	0	--	--		0	T			NBPF10_uc001emp.3_Intron|GNRHR2_uc009wiv.1_5'Flank|GNRHR2_uc010oyt.1_5'Flank|GNRHR2_uc001enx.2_5'Flank|PEX11B_uc010oyu.1_Missense_Mutation_p.P25L	112	GBM-06-6698-TP	p.P39L	C	GGAGCCAGTCCTGAGTTACAG	NM_003846	NP_003837	145517332	O96011	PX11B_HUMAN	0			2	134	+	T	T	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Missense_Mutation	39						
PEX11G	92960	broad.mit.edu	GRCh37	19	7542216	7542217	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C			TCGA-02-0033-01	TCGA-02-0033-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221480.1:c.597dup	p.Pro200AlafsTer90	p.P200Afs*90	ENST00000221480	NM_001270539.1	199	-/G	0			1			C	-/X	uc002mgk.1	protein_coding	YES	CCDS12178.1			597-598/726										0	c.(595-600)CTGCCCfs			Pfam_domain:PF05648,hmmpanther:PTHR20990,hmmpanther:PTHR20990:SF0	peroxisomal biogenesis factor 11 gamma				ENSP00000221480		5-May										5-May	.		ENST00000221480	Transcript				integral to membrane|peroxisomal membrane		ENSG00000104883	g.chr19:7542216_7542217insC	20208			HIGH								--	--	1																																		PEX11G_uc002mgl.1_Frame_Shift_Ins_p.L129fs		1			p.L199fs	NM_080662	NP_542393				PX11C_HUMAN	PEX11G	HGNC	Q96HA9	PX11C_HUMAN					5	606_607	-			UPI0000071E6C	199_200			Lumenal (Potential).		insertion	PEX11G,frameshift_variant,p.Pro130AlafsTer90,ENST00000593942,;PEX11G,frameshift_variant,p.Pro200AlafsTer90,ENST00000221480,NM_001270539.1,NM_080662.3;PEX11G,intron_variant,,ENST00000593547,;ARHGEF18,downstream_gene_variant,,ENST00000359920,NM_001130955.1;ARHGEF18,downstream_gene_variant,,ENST00000319670,NM_015318.3;ARHGEF18,downstream_gene_variant,,ENST00000594665,;PEX11G,non_coding_transcript_exon_variant,,ENST00000599519,;	uc002mgk.1	c.597_598insG	606-607/1062	5	5			c.597_598insG						19	INS	c.(595-600)CTGCCCfs	24	24				0	Broad	peroxisomal biogenesis factor 11 gamma			7542217		0.713	ENSG00000104883	11545	g.chr19:7542216_7542217insC		integral to membrane|peroxisomal membrane																					0.33	1	0	0	1	1	0	0	0	0	--	--		0	C			PEX11G_uc002mgl.1_Frame_Shift_Ins_p.L129fs	2	GBM-02-0033-TP	p.L199fs	-	ACGCCCCGGGGCAGCCAGTGCA	NM_080662	NP_542393	7542216	Q96HA9	PX11C_HUMAN	0			5	606_607	-	C	C			Frame_Shift_Ins	199_200			Lumenal (Potential).			
PEX12	5193	broad.mit.edu	GRCh37	17	33904306	33904306	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0743-01	TCGA-06-0743-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000225873.4:c.431C>G	p.Ser144Cys	p.S144C	ENST00000225873	NM_000286.2	144	tCt/tGt	0			1			C	S/C	uc002hjp.2	protein_coding	YES	CCDS11296.1			431/1080										0	c.(430-432)TCT>TGT			hmmpanther:PTHR12888:SF0,hmmpanther:PTHR12888,Pfam_domain:PF04757,PIRSF_domain:PIRSF038074	peroxisomal biogenesis factor 12				ENSP00000225873		3-Feb									COSM705496	3-Feb	.		ENST00000225873	Transcript	1		protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	ENSG00000108733	g.chr17:33904306G>C	8854			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=PEX12_HUMAN&rb=26&re=268&var=S144C	NA	getma.org/?cm=var&var=hg19,17,33904306,G,C&fts=all	S144C	--	--	1																																			1	1		probably_damaging(0.963)	p.S144C	NM_000286	NP_000277		deleterious(0.01)	1	PEX12_HUMAN	PEX12	HGNC	O00623	PEX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	K7ELY8_HUMAN		2	1047	-			UPI0000131703	144			Cytoplasmic (Potential).		SNV	PEX12,missense_variant,p.Ser144Cys,ENST00000225873,NM_000286.2;PEX12,missense_variant,p.Ser144Cys,ENST00000585380,;AP2B1,upstream_gene_variant,,ENST00000589774,;RP11-1094M14.11,downstream_gene_variant,,ENST00000592381,;SNORD7,downstream_gene_variant,,ENST00000384567,NR_003037.1;PEX12,missense_variant,p.Ser144Cys,ENST00000586663,;	uc002hjp.2	c.431C>G	1039/2675	3	3			c.431C>G						17	SNP	c.(430-432)TCT>TGT	55	55				0	Broad	peroxisomal biogenesis factor 12			33904306		0.453	ENSG00000108733	11546	g.chr17:33904306G>C	protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding							370.964851	KEEP	52	61	-1	41	53	52	61	-1	371.157201	41	53	0.534031	1	0	0	0	0	1	0	0	0	--	--		0	C				65	GBM-06-0743-TP	p.S144C	G	GGGATGAATAGAATATTCATC	NM_000286	NP_000277	33904306	O00623	PEX12_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	1047	-	C	C			Missense_Mutation	144			Cytoplasmic (Potential).			
PEX12	5193		GRCh37	17	33904178	33904178	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000225873.4:c.559C>T	p.Gln187Ter	p.Q187*	ENST00000225873	NM_000286.2	187	Cag/Tag	0																																																																																																																																																																																																																																												
PEX14	0	broad.mit.edu	GRCh37	1	10683104	10683104	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-14-1825-01	TCGA-14-1825-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356607.4:c.413G>T	p.Gly138Val	p.G138V	ENST00000356607	NM_004565.2	138	gGc/gTc	0			1			T	G/V	uc001arn.2	protein_coding	YES	CCDS30582.1			413/1134									breast(1)	1	c.(412-414)GGC>GTC			hmmpanther:PTHR23058	peroxisomal biogenesis factor 14				ENSP00000349016		9-Jun									COSM3399503	9-Jun	.		ENST00000356607	Transcript	1		negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity	ENSG00000142655	g.chr1:10683104G>T	8856			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=PEX14_HUMAN&rb=136&re=335&var=G138V	NA	getma.org/?cm=var&var=hg19,1,10683104,G,T&fts=all	G138V	--	--	1																																		PEX14_uc009vmu.1_Missense_Mutation_p.G95V|PEX14_uc009vmv.2_Missense_Mutation_p.G74V|PEX14_uc010oam.1_Missense_Mutation_p.G74V|PEX14_uc010oan.1_Missense_Mutation_p.G95V|PEX14_uc009vmw.2_Missense_Mutation_p.G74V	1	1		probably_damaging(0.972)	p.G138V	NM_004565	NP_004556		tolerated(0.18)	1	PEX14_HUMAN	PEX14	HGNC	O75381	PEX14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)	F5H4J2_HUMAN		6	434	+	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)	UPI000013170A	138					SNV	PEX14,missense_variant,p.Gly138Val,ENST00000356607,NM_004565.2;PEX14,missense_variant,p.Gly74Val,ENST00000538836,;PEX14,missense_variant,p.Gly133Val,ENST00000491661,;	uc001arn.2	c.413G>T	493/1985	2	2			c.413G>T						1	SNP	c.(412-414)GGC>GTC	33	33			breast(1)	1	Broad	peroxisomal biogenesis factor 14			10683104		0.557	ENSG00000142655	11548	g.chr1:10683104G>T	negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity							33.595811	KEEP	10	4	0.714285714	10	10	10	4	0.714285714	33.78354	10	10	0.413793	1	0	0	0	0	1	0	0	0	--	--		0	T			PEX14_uc009vmu.1_Missense_Mutation_p.G95V|PEX14_uc009vmv.2_Missense_Mutation_p.G74V|PEX14_uc010oam.1_Missense_Mutation_p.G74V|PEX14_uc010oan.1_Missense_Mutation_p.G95V|PEX14_uc009vmw.2_Missense_Mutation_p.G74V	148	GBM-14-1825-TP	p.G138V	G	ATCCTGGGCGGCCGAGAGGAC	NM_004565	NP_004556	10683104	O75381	PEX14_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)	6	434	+	T	T	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	138						
PEX19	5824	broad.mit.edu	GRCh37	1	160254853	160254853	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0166-01	TCGA-06-0166-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368072.5:c.62T>C	p.Leu21Pro	p.L21P	ENST00000368072	NM_001193644.1	21	cTt/cCt	0			1			G	L/P	uc001fvs.2	protein_coding	YES	CCDS1201.1			62/900										0	c.(61-63)CTT>CCT			hmmpanther:PTHR12774,Low_complexity_(Seg):seg	peroxisomal biogenesis factor 19 isoform a				ENSP00000357051		8-Jan									COSM3399886	8-Jan	.		ENST00000368072	Transcript	1		peroxisome membrane biogenesis|peroxisome organization|protein targeting to peroxisome|transmembrane transport	brush border membrane|cytosol|integral to membrane|nucleus|peroxisomal membrane	protein binding|protein N-terminus binding	ENSG00000162735	g.chr1:160254853A>G	9713			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=PEX19_HUMAN&rb=1&re=49&var=L21P	getma.org/pdb.php?prot=PEX19_HUMAN&from=1&to=49&var=L21P	getma.org/?cm=var&var=hg19,1,160254853,A,G&fts=all	L21P	--	--	1																																		DCAF8_uc010pjc.1_5'UTR|PEX19_uc010pje.1_RNA|PEX19_uc001fvt.2_5'UTR	1	1		possibly_damaging(0.766)	p.L21P	NM_002857	NP_002848		deleterious(0)	1	PEX19_HUMAN	PEX19	HGNC	P40855	PEX19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		B7Z6I5_HUMAN		1	89	-	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		UPI0000132BAD	21			Necessary for PEX19 function on peroxisome biogenesis.|Docking to the peroxisome membrane and binding to PEX3.		SNV	PEX19,missense_variant,p.Leu21Pro,ENST00000368072,NM_001193644.1,NM_002857.3;DCAF8,5_prime_UTR_variant,,ENST00000556710,;DCAF8,5_prime_UTR_variant,,ENST00000608310,;PEX19,5_prime_UTR_variant,,ENST00000440949,;COPA,downstream_gene_variant,,ENST00000241704,NM_004371.3,NM_001098398.1;COPA,downstream_gene_variant,,ENST00000368069,;DCAF8,upstream_gene_variant,,ENST00000485079,;PEX19,upstream_gene_variant,,ENST00000392220,;PEX19,upstream_gene_variant,,ENST00000495624,;PEX19,non_coding_transcript_exon_variant,,ENST00000532508,;PEX19,non_coding_transcript_exon_variant,,ENST00000533104,;PEX19,intron_variant,,ENST00000533699,;PEX19,upstream_gene_variant,,ENST00000467711,;PEX19,missense_variant,p.Leu21Pro,ENST00000472750,;PEX19,missense_variant,p.Leu21Pro,ENST00000532643,;PEX19,non_coding_transcript_exon_variant,,ENST00000524939,;PEX19,upstream_gene_variant,,ENST00000462644,;PEX19,upstream_gene_variant,,ENST00000532516,;	uc001fvs.2	c.62T>C	84/3661	3	3			c.62T>C						1	SNP	c.(61-63)CTT>CCT	54	54				0	Broad	peroxisomal biogenesis factor 19 isoform a			160254853		0.597	ENSG00000162735	11550	g.chr1:160254853A>G	peroxisome membrane biogenesis|peroxisome organization|protein targeting to peroxisome|transmembrane transport	brush border membrane|cytosol|integral to membrane|nucleus|peroxisomal membrane	protein binding|protein N-terminus binding							36.108053	KEEP	13	12	-1	64	48	13	12	-1	50.955201	64	48	0.141667	1	0	0	0	0	1	0	0	0	--	--		0	G			DCAF8_uc010pjc.1_5'UTR|PEX19_uc010pje.1_RNA|PEX19_uc001fvt.2_5'UTR	31	GBM-06-0166-TP	p.L21P	A	ACTTTCCAGAAGCTCCTCCAA	NM_002857	NP_002848	160254853	P40855	PEX19_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.111)		1	89	-	G	G	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		Missense_Mutation	21			Necessary for PEX19 function on peroxisome biogenesis.|Docking to the peroxisome membrane and binding to PEX3.			
PEX19	5824	broad.mit.edu	GRCh37	1	160250017	160250017	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01	TCGA-06-0939-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368072.5:c.614G>A	p.Ser205Asn	p.S205N	ENST00000368072	NM_001193644.1	205	aGt/aAt	0			1			T	S/N	uc010pjc.1	protein_coding	YES	CCDS1201.1			614/900									skin(2)	2	c.(172-174)AGT>AAT			Pfam_domain:PF04614,hmmpanther:PTHR12774	DDB1 and CUL4 associated factor 8				ENSP00000357051		8-Jun									COSM2152427,COSM2152428	8-Jun	.		ENST00000368072	Transcript	1			CUL4 RING ubiquitin ligase complex	protein binding	ENSG00000162735	g.chr1:160250017C>T	9713			MODERATE		0.145	neutral	getma.org/?cm=msa&ty=f&p=PEX19_HUMAN&rb=50&re=299&var=S205N	getma.org/pdb.php?prot=PEX19_HUMAN&from=50&to=299&var=S205N	getma.org/?cm=var&var=hg19,1,160250017,C,T&fts=all	S205N	--	--	1																																		PEX19_uc010pje.1_RNA|PEX19_uc001fvs.2_Missense_Mutation_p.S205N|PEX19_uc001fvt.2_Missense_Mutation_p.S115N	1,1	1		benign(0.151)	p.S58N	NM_015726	NP_056541		tolerated(0.25)	1,1	PEX19_HUMAN	PEX19	HGNC	Q5TAQ9	DCAF8_HUMAN			B7Z6I5_HUMAN		4	445	-			UPI0000132BAD	142					SNV	PEX19,missense_variant,p.Ser205Asn,ENST00000368072,NM_001193644.1,NM_002857.3;DCAF8,missense_variant,p.Ser58Asn,ENST00000556710,;DCAF8,missense_variant,p.Ser58Asn,ENST00000608310,;PEX19,missense_variant,p.Ser115Asn,ENST00000440949,;DCAF8,missense_variant,p.Ser75Asn,ENST00000485079,;PEX19,missense_variant,p.Ser185Asn,ENST00000392220,;PEX19,missense_variant,p.Ser43Asn,ENST00000495624,;PEX19,non_coding_transcript_exon_variant,,ENST00000532508,;PEX19,downstream_gene_variant,,ENST00000533699,;PEX19,downstream_gene_variant,,ENST00000533104,;PEX19,upstream_gene_variant,,ENST00000467711,;PEX19,synonymous_variant,p.=,ENST00000462644,;PEX19,synonymous_variant,p.=,ENST00000532643,;PEX19,3_prime_UTR_variant,,ENST00000472750,;PEX19,non_coding_transcript_exon_variant,,ENST00000532516,;PEX19,downstream_gene_variant,,ENST00000524939,;	uc010pjc.1	c.173G>A	636/3661	1	1			c.173G>A						1	SNP	c.(172-174)AGT>AAT	13	13			skin(2)	2	Broad	DDB1 and CUL4 associated factor 8			160250017		0.418	ENSG00000162735	4201	g.chr1:160250017C>T		CUL4 RING ubiquitin ligase complex	protein binding							323.942483	KEEP	65	63	-1	130	173	65	63	-1	336.727833	130	173	0.301105	1	0	0	0	0	1	0	0	0	--	--		0	T			PEX19_uc010pje.1_RNA|PEX19_uc001fvs.2_Missense_Mutation_p.S205N|PEX19_uc001fvt.2_Missense_Mutation_p.S115N	78	GBM-06-0939-TP	p.S58N	C	TTCCCGATGACTCTGCAACCA	NM_015726	NP_056541	160250017	Q5TAQ9	DCAF8_HUMAN	0			4	445	-	T	T			Missense_Mutation	142						
PEX5	0	broad.mit.edu	GRCh37	12	7343512	7343512	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-27-2523-01	TCGA-27-2523-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000420616.2:c.176A>G	p.Glu59Gly	p.E59G	ENST00000420616	NM_001131025.1	59	gAa/gGa	0			1			G	E/G	uc009zfu.1	protein_coding		CCDS44823.1			176/1920									ovary(1)	1	c.(175-177)GAA>GGA			hmmpanther:PTHR10130,hmmpanther:PTHR10130:SF2	peroxisomal biogenesis factor 5 isoform d				ENSP00000410159		16-Mar									COSM3399087,COSM3399086	16-Mar	.		ENST00000420616	Transcript	1		protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding	ENSG00000139197	g.chr12:7343512A>G	9719			MODERATE		1.485	low	getma.org/?cm=msa&ty=f&p=PEX5_HUMAN&rb=1&re=257&var=E59G	NA	getma.org/?cm=var&var=hg19,12,7343512,A,G&fts=all	E59G	--	--	1																																		PEX5_uc001qsw.2_Missense_Mutation_p.E59G|PEX5_uc010sgc.1_Missense_Mutation_p.E74G|PEX5_uc001qsu.2_Missense_Mutation_p.E59G|PEX5_uc010sgd.1_Missense_Mutation_p.E80G|PEX5_uc001qsv.2_Missense_Mutation_p.E59G	1,1			benign(0.022)	p.E59G	NM_001131026	NP_001124498		deleterious(0.02)	1,1	PEX5_HUMAN	PEX5	HGNC	P50542	PEX5_HUMAN			F5H432_HUMAN,F5H3X7_HUMAN,F5H205_HUMAN,F5H0L9_HUMAN,F5GZ41_HUMAN,F5GYB4_HUMAN,F5GXX3_HUMAN		4	756	+			UPI000016AE82	59					SNV	PEX5,missense_variant,p.Glu59Gly,ENST00000266563,NM_001131024.1;PEX5,missense_variant,p.Glu59Gly,ENST00000266564,NM_000319.4;PEX5,missense_variant,p.Glu59Gly,ENST00000455147,NM_001131026.1;PEX5,missense_variant,p.Glu59Gly,ENST00000420616,NM_001131025.1;PEX5,missense_variant,p.Glu74Gly,ENST00000434354,NM_001131023.1;PEX5,missense_variant,p.Glu80Gly,ENST00000412720,;PEX5,missense_variant,p.Glu74Gly,ENST00000396637,;PEX5,missense_variant,p.Glu59Gly,ENST00000542539,;PEX5,missense_variant,p.Glu59Gly,ENST00000540398,;PEX5,missense_variant,p.Glu59Gly,ENST00000544456,;PEX5,missense_variant,p.Glu59Gly,ENST00000536841,;PEX5,missense_variant,p.Glu59Gly,ENST00000537873,;PEX5,5_prime_UTR_variant,,ENST00000536883,;PEX5,5_prime_UTR_variant,,ENST00000545845,;PEX5,5_prime_UTR_variant,,ENST00000543974,;PEX5,intron_variant,,ENST00000545574,;RP11-273B20.3,upstream_gene_variant,,ENST00000545794,;RP11-273B20.3,upstream_gene_variant,,ENST00000543061,;PEX5,non_coding_transcript_exon_variant,,ENST00000545220,;PEX5,upstream_gene_variant,,ENST00000539304,;PEX5,downstream_gene_variant,,ENST00000535486,;	uc009zfu.1	c.176A>G	694/2477	3	3			c.176A>G						12	SNP	c.(175-177)GAA>GGA	56	56			ovary(1)	1	Broad	peroxisomal biogenesis factor 5 isoform d			7343512		0.428	ENSG00000139197	11554	g.chr12:7343512A>G	protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding							285.159533	KEEP	60	34	-1	62	62	60	34	-1	285.940864	62	62	0.430851	1	0	0	0	0	1	0	0	0	--	--		0	G			PEX5_uc001qsw.2_Missense_Mutation_p.E59G|PEX5_uc010sgc.1_Missense_Mutation_p.E74G|PEX5_uc001qsu.2_Missense_Mutation_p.E59G|PEX5_uc010sgd.1_Missense_Mutation_p.E80G|PEX5_uc001qsv.2_Missense_Mutation_p.E59G	201	GBM-27-2523-TP	p.E59G	A	GTAGCTTCTGAAGATGAGGTA	NM_001131026	NP_001124498	7343512	P50542	PEX5_HUMAN	0			4	756	+	G	G			Missense_Mutation	59						
PEX5L	51555	broad.mit.edu	GRCh37	3	179526143	179526143	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01	TCGA-06-1804-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000467460.1:c.1435G>A	p.Gly479Ser	p.G479S	ENST00000467460	NM_001256751.1	479	Ggt/Agt	0			1			T	G/S	uc003fki.1	protein_coding	YES	CCDS3236.1			1435/1881									ovary(3)|large_intestine(1)	4	c.(1435-1437)GGT>AGT			PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR10130:SF1,hmmpanther:PTHR10130,Pfam_domain:PF13414,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452	peroxisomal biogenesis factor 5-like				ENSP00000419975		13/15									COSM2152468,COSM3408455	13/15	.		ENST00000467460	Transcript			protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	ENSG00000114757	g.chr3:179526143C>T	30024			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=PEX5R_HUMAN&rb=473&re=539&var=G479S	getma.org/pdb.php?prot=PEX5R_HUMAN&from=473&to=539&var=G479S	getma.org/?cm=var&var=hg19,3,179526143,C,T&fts=all	G479S	--	--	1																																		PEX5L_uc011bqd.1_Missense_Mutation_p.G436S|PEX5L_uc011bqe.1_Missense_Mutation_p.G287S|PEX5L_uc011bqf.1_Missense_Mutation_p.G371S|PEX5L_uc003fkj.1_Missense_Mutation_p.G444S|PEX5L_uc010hxd.1_Missense_Mutation_p.G477S|PEX5L_uc011bqg.1_Missense_Mutation_p.G455S|PEX5L_uc011bqh.1_Missense_Mutation_p.G420S	1,1	1		probably_damaging(1)	p.G479S	NM_016559	NP_057643		deleterious(0)	1,1	PEX5R_HUMAN	PEX5L	HGNC	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		C9JZE2_HUMAN,C9IZ09_HUMAN		13	1565	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		UPI0000049CE2	479			TPR 3.		SNV	PEX5L,missense_variant,p.Gly479Ser,ENST00000467460,NM_001256751.1,NM_016559.2;PEX5L,missense_variant,p.Gly444Ser,ENST00000485199,NM_001256752.1;PEX5L,missense_variant,p.Gly477Ser,ENST00000263962,NM_001256750.1;PEX5L,missense_variant,p.Gly436Ser,ENST00000476138,NM_001256754.1;PEX5L,missense_variant,p.Gly371Ser,ENST00000392649,;PEX5L,missense_variant,p.Gly287Ser,ENST00000468741,NM_001256756.1;PEX5L,missense_variant,p.Gly420Ser,ENST00000472994,NM_001256753.1;PEX5L,missense_variant,p.Gly455Ser,ENST00000465751,;PEX5L,missense_variant,p.Gly371Ser,ENST00000464614,NM_001256755.1;RP11-494H4.3,downstream_gene_variant,,ENST00000602704,;PEX5L,non_coding_transcript_exon_variant,,ENST00000467440,;PEX5L,downstream_gene_variant,,ENST00000461537,;PEX5L,downstream_gene_variant,,ENST00000477829,;	uc003fki.1	c.1435G>A	1766/9082	2	2			c.1435G>A						3	SNP	c.(1435-1437)GGT>AGT	47	47			ovary(3)|large_intestine(1)	4	Broad	peroxisomal biogenesis factor 5-like			179526143		0.458	ENSG00000114757	11555	g.chr3:179526143C>T	protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			648			648	108.500873	KEEP	16	21	-1	34	30	16	21	-1	109.946404	34	30	0.368421	1	0	0	0	0	1	0	0	0	--	--		0	T			PEX5L_uc011bqd.1_Missense_Mutation_p.G436S|PEX5L_uc011bqe.1_Missense_Mutation_p.G287S|PEX5L_uc011bqf.1_Missense_Mutation_p.G371S|PEX5L_uc003fkj.1_Missense_Mutation_p.G444S|PEX5L_uc010hxd.1_Missense_Mutation_p.G477S|PEX5L_uc011bqg.1_Missense_Mutation_p.G455S|PEX5L_uc011bqh.1_Missense_Mutation_p.G420S	79	GBM-06-1804-TP	p.G479S	C	ACCCCTAGACCTGTCTGCAGG	NM_016559	NP_057643	179526143	Q8IYB4	PEX5R_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		13	1565	-	T	T	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		Missense_Mutation	479			TPR 3.			
PEX5L	0	broad.mit.edu	GRCh37	3	179616029	179616029	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-32-4209-01	TCGA-32-4209-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000467460.1:c.99delA	p.Gly34AlafsTer12	p.G34Afs*12	ENST00000467460	NM_001256751.1	33	aaA/aa	0			1			-	K/X	uc003fki.1	protein_coding	YES	CCDS3236.1			99/1881									ovary(3)|large_intestine(1)	4	c.(97-99)AAAfs			hmmpanther:PTHR10130:SF1,hmmpanther:PTHR10130	peroxisomal biogenesis factor 5-like				ENSP00000419975		15-Mar										15-Mar	.		ENST00000467460	Transcript			protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	ENSG00000114757	g.chr3:179616029delT	30024			HIGH								--	--	1																																		PEX5L_uc011bqd.1_5'UTR|PEX5L_uc011bqe.1_Intron|PEX5L_uc011bqf.1_5'UTR|PEX5L_uc003fkj.1_Intron|PEX5L_uc010hxd.1_Frame_Shift_Del_p.K31fs|PEX5L_uc011bqg.1_Frame_Shift_Del_p.K9fs|PEX5L_uc011bqh.1_Intron		1			p.K33fs	NM_016559	NP_057643				PEX5R_HUMAN	PEX5L	HGNC	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		C9JZE2_HUMAN,C9IZ09_HUMAN		3	229	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		UPI0000049CE2	33					deletion	PEX5L,frameshift_variant,p.Gly34AlafsTer12,ENST00000467460,NM_001256751.1,NM_016559.2;PEX5L,frameshift_variant,p.Gly32AlafsTer12,ENST00000263962,NM_001256750.1;PEX5L,frameshift_variant,p.Gly10AlafsTer12,ENST00000465751,;PEX5L,frameshift_variant,p.Gly58AlafsTer12,ENST00000463761,;PEX5L,5_prime_UTR_variant,,ENST00000476138,NM_001256754.1;PEX5L,5_prime_UTR_variant,,ENST00000464614,NM_001256755.1;PEX5L,intron_variant,,ENST00000485199,NM_001256752.1;PEX5L,intron_variant,,ENST00000468741,NM_001256756.1;PEX5L,intron_variant,,ENST00000472994,NM_001256753.1;PEX5L,intron_variant,,ENST00000469198,;PEX5L,upstream_gene_variant,,ENST00000392649,;PEX5L,upstream_gene_variant,,ENST00000491640,;PEX5L,upstream_gene_variant,,ENST00000496721,;PEX5L-AS2,non_coding_transcript_exon_variant,,ENST00000462801,;PEX5L,intron_variant,,ENST00000487198,;PEX5L,downstream_gene_variant,,ENST00000474909,;	uc003fki.1	c.99delA	430/9082	5	5			c.99delA						3	DEL	c.(97-99)AAAfs	60	60			ovary(3)|large_intestine(1)	4	Broad	peroxisomal biogenesis factor 5-like			179616029		0.413	ENSG00000114757	11555	g.chr3:179616029delT	protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			648			648														0.02	1	1	0	1	0	0	0	0	0	--	--		0	-			PEX5L_uc011bqd.1_5'UTR|PEX5L_uc011bqe.1_Intron|PEX5L_uc011bqf.1_5'UTR|PEX5L_uc003fkj.1_Intron|PEX5L_uc010hxd.1_Frame_Shift_Del_p.K31fs|PEX5L_uc011bqg.1_Frame_Shift_Del_p.K9fs|PEX5L_uc011bqh.1_Intron	244	GBM-32-4209-TP	p.K33fs	T	CCCTAGAGCCTTTTCCCTATA	NM_016559	NP_057643	179616029	Q8IYB4	PEX5R_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		3	229	-	-	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		Frame_Shift_Del	33						
PF4	0	broad.mit.edu	GRCh37	4	74847163	74847163	+	synonymous_variant	Silent	SNP	G	G	A	rs144253863		TCGA-19-2623-01	TCGA-19-2623-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296029.3:c.189C>T	p.Ala63=	p.A63=	ENST00000296029	NM_002619.3	63	gcC/gcT	0	A:0		1			A	A	uc003hhi.2	protein_coding	YES	CCDS3562.1			189/306										0	c.(187-189)GCC>GCT			hmmpanther:PTHR10179:SF38,hmmpanther:PTHR10179,PROSITE_patterns:PS00471,Pfam_domain:PF00048,Gene3D:2.40.50.40,SMART_domains:SM00199,Superfamily_domains:SSF54117,Prints_domain:PR00436,Prints_domain:PR00437	platelet factor 4 (chemokine (C-X-C motif)	Drotrecogin alfa(DB00055)		A:0.0002	ENSP00000296029		3-Feb	0.000189					0.000345			rs144253863,COSM2831394	3-Feb	.		ENST00000296029	Transcript			cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|negative regulation of MHC class II biosynthetic process|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production	extracellular space|platelet alpha granule lumen	chemokine activity|heparin binding	ENSG00000163737	g.chr4:74847163G>A	8861			LOW								--	--	1																																			0,1	1			p.A63A	NM_002619	NP_002610			0,1	PLF4_HUMAN	PF4	HGNC	P02776	PLF4_HUMAN	all cancers(17;0.0034)|Lung(101;0.196)				2	234	-	Breast(15;0.00136)		UPI000002E1F5	63					SNV	PF4,synonymous_variant,p.=,ENST00000296029,NM_002619.3;	uc003hhi.2	c.189C>T	360/604	1	1			c.189C>T						4	SNP	c.(187-189)GCC>GCT	59	59				0	Broad	platelet factor 4 (chemokine (C-X-C motif)		Drotrecogin alfa(DB00055)	74847163		0.612	ENSG00000163737	11558	g.chr4:74847163G>A	cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|negative regulation of MHC class II biosynthetic process|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production	extracellular space|platelet alpha granule lumen	chemokine activity|heparin binding							56.232435	KEEP	15	6	-1	45	28	15	6	-1	60.153361	45	28	0.265823	1	0	0	0	0	0	0	1	0	--	--		0	A				163	GBM-19-2623-TP	p.A63A	G	AGTGGGGTCCGGCCTTGATCA	NM_002619	NP_002610	74847163	P02776	PLF4_HUMAN	0	all cancers(17;0.0034)|Lung(101;0.196)		2	234	-	A	A	Breast(15;0.00136)		Silent	63						
PF4V1	5197		GRCh37	4	74719597	74719597	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000226524.3:c.198C>T	p.Ala66=	p.A66=	ENST00000226524	NM_002620.2	66	gcC/gcT	0																																																																																																																																																																																																																																												
PFAS	0	broad.mit.edu	GRCh37	17	8158344	8158344	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314666.6:c.279-1G>A		p.X93_splice	ENST00000314666	NM_012393.2			0			1			A		uc002gkr.2	protein_coding	YES	CCDS11136.1			279/4017									ovary(2)|central_nervous_system(2)|pancreas(1)	5	c.e4-1				phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)			ENSP00000313490											COSM3403401		.		ENST00000314666	Transcript			'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	ENSG00000178921	g.chr17:8158344G>A	8863			HIGH	27-Mar							--	--	1																																		PFAS_uc010vuv.1_Splice_Site	1	1			p.R93_splice	NM_012393	NP_036525			1	PUR4_HUMAN	PFAS	HGNC	O15067	PUR4_HUMAN			Q9BR56_HUMAN,Q6P4B4_HUMAN,J3QSH6_HUMAN,J3QL39_HUMAN,J3KTL4_HUMAN,F5GWT9_HUMAN		4	420	+			UPI00001A95E5						SNV	PFAS,splice_acceptor_variant,,ENST00000314666,NM_012393.2;PFAS,splice_acceptor_variant,,ENST00000545834,;PFAS,splice_acceptor_variant,,ENST00000584044,;PFAS,splice_acceptor_variant,,ENST00000581242,;PFAS,downstream_gene_variant,,ENST00000585183,;PFAS,splice_acceptor_variant,,ENST00000580356,;	uc002gkr.2	c.279_splice	-/5371	5	1			c.279_splice						17	SNP	c.e4-1	60	60			ovary(2)|central_nervous_system(2)|pancreas(1)	5	Broad	phosphoribosylformylglycinamidine synthase		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	8158344		0.632	ENSG00000178921	11560	g.chr17:8158344G>A	'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding							42.511341	KEEP	12	13	-1	84	65	12	13	-1	61.837224	84	65	0.144654	1	0	0	0	0	0	0	0	1	--	--		0	A			PFAS_uc010vuv.1_Splice_Site	220	GBM-28-5213-TP	p.R93_splice	G	CCATTGTTCAGGCTGAACTTC	NM_012393	NP_036525	8158344	O15067	PUR4_HUMAN	0			4	420	+	A	A			Splice_Site							
PFDN4	0	broad.mit.edu	GRCh37	20	52830966	52830966	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5220-01	TCGA-28-5220-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371419.2:c.101C>T	p.Thr34Ile	p.T34I	ENST00000371419	NM_002623.3	34	aCa/aTa	0			1			T	T/I	uc002xwx.2	protein_coding	YES	CCDS13445.1			101/405										0	c.(100-102)ACA>ATA			Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF46579,PIRSF_domain:PIRSF016477,Gene3D:1.10.287.370,Pfam_domain:PF01920,hmmpanther:PTHR21100,hmmpanther:PTHR21100:SF9	prefoldin subunit 4				ENSP00000360473		4-Feb									COSM3405215	4-Feb	.		ENST00000371419	Transcript			'de novo' posttranslational protein folding	prefoldin complex	chaperone binding|unfolded protein binding	ENSG00000101132	g.chr20:52830966C>T	8868			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=PFD4_HUMAN&rb=20&re=126&var=T34I	NA	getma.org/?cm=var&var=hg19,20,52830966,C,T&fts=all	T34I	--	--	1																																			1	1		benign(0.114)	p.T34I	NM_002623	NP_002614		tolerated(0.08)	1	PFD4_HUMAN	PFDN4	HGNC	Q9NQP4	PFD4_HUMAN	Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)				2	239	+	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		UPI0000131728	34					SNV	PFDN4,missense_variant,p.Thr34Ile,ENST00000371419,NM_002623.3;PFDN4,non_coding_transcript_exon_variant,,ENST00000487129,;PFDN4,non_coding_transcript_exon_variant,,ENST00000493356,;PFDN4,downstream_gene_variant,,ENST00000474326,;PFDN4,missense_variant,p.Thr34Ile,ENST00000441080,;	uc002xwx.2	c.101C>T	355/1462	2	2			c.101C>T						20	SNP	c.(100-102)ACA>ATA	21	21				0	Broad	prefoldin subunit 4			52830966		0.284	ENSG00000101132	11563	g.chr20:52830966C>T	'de novo' posttranslational protein folding	prefoldin complex	chaperone binding|unfolded protein binding							54.582751	KEEP	11	12	-1	16	21	11	12	-1	55.283896	16	21	0.377358	1	0	0	0	0	1	0	0	0	--	--		0	T				226	GBM-28-5220-TP	p.T34I	C	AGTAGAATCACAGAGCTGAAG	NM_002623	NP_002614	52830966	Q9NQP4	PFD4_HUMAN	0	Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)		2	239	+	T	T	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		Missense_Mutation	34						
PFKFB1	0	broad.mit.edu	GRCh37	X	54986282	54986282	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01	TCGA-32-4213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375006.3:c.362G>A	p.Ser121Asn	p.S121N	ENST00000375006	NM_001271804.1	121	aGc/aAc	0			1			T	S/N	uc004dty.1	protein_coding	YES	CCDS14364.1			362/1416									ovary(1)	1	c.(361-363)AGC>AAC			hmmpanther:PTHR10606:SF15,hmmpanther:PTHR10606,Gene3D:3.40.50.300,Pfam_domain:PF01591,PIRSF_domain:PIRSF000709,Superfamily_domains:SSF52540	6-phosphofructo-2-kinase/fructose-2,				ENSP00000364145		14-Apr									COSM3406497	14-Apr	.		ENST00000375006	Transcript			energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	ENSG00000158571	g.chrX:54986282C>T	8872			MODERATE		0.73	neutral	getma.org/?cm=msa&ty=f&p=F261_HUMAN&rb=30&re=251&var=S121N	getma.org/pdb.php?prot=F261_HUMAN&from=30&to=251&var=S121N	getma.org/?cm=var&var=hg19,X,54986282,C,T&fts=all	S121N	--	--	1																																		PFKFB1_uc010nkd.1_Missense_Mutation_p.S107N|PFKFB1_uc011mol.1_Missense_Mutation_p.S56N	1	1		benign(0.005)	p.S121N	NM_002625	NP_002616			1	F261_HUMAN	PFKFB1	HGNC	P16118	F261_HUMAN			I1Z9G4_HUMAN,I1Z9G3_HUMAN		4	433	-			UPI000012A3ED	121			6-phosphofructo-2-kinase.		SNV	PFKFB1,missense_variant,p.Ser121Asn,ENST00000375006,NM_001271804.1,NM_002625.3;PFKFB1,missense_variant,p.Ser56Asn,ENST00000545676,NM_001271805.1;PFKFB1,missense_variant,p.Ser99Asn,ENST00000374992,;	uc004dty.1	c.362G>A	433/1929	2	2			c.362G>A						23	SNP	c.(361-363)AGC>AAC	24	24			ovary(1)	1	Broad	6-phosphofructo-2-kinase/fructose-2,			54986282		0.388	ENSG00000158571	11566	g.chrX:54986282C>T	energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding							74.82201	KEEP	7	25	-1	27	38	7	25	-1	76.38112	27	38	0.346667	1	0	0	0	0	1	0	0	0	--	--		0	T			PFKFB1_uc010nkd.1_Missense_Mutation_p.S107N|PFKFB1_uc011mol.1_Missense_Mutation_p.S56N	247	GBM-32-4213-TP	p.S121N	C	TTCCTCATGGCTGAGATAGTT	NM_002625	NP_002616	54986282	P16118	F261_HUMAN	0			4	433	-	T	T			Missense_Mutation	121			6-phosphofructo-2-kinase.			
PFKFB1	0	broad.mit.edu	GRCh37	X	54986328	54986328	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C			TCGA-41-2572-01	TCGA-41-2572-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375006.3:c.318-2A>G		p.X106_splice	ENST00000375006	NM_001271804.1			0			1			C		uc004dty.1	protein_coding	YES	CCDS14364.1			318/1416									ovary(1)	1	c.e4-1				6-phosphofructo-2-kinase/fructose-2,				ENSP00000364145											COSM3406498		.		ENST00000375006	Transcript			energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	ENSG00000158571	g.chrX:54986328T>C	8872			HIGH	13-Mar							--	--	1																																		PFKFB1_uc010nkd.1_Splice_Site_p.K92_splice|PFKFB1_uc011mol.1_Splice_Site_p.K41_splice	1	1			p.K106_splice	NM_002625	NP_002616			1	F261_HUMAN	PFKFB1	HGNC	P16118	F261_HUMAN			I1Z9G4_HUMAN,I1Z9G3_HUMAN		4	389	-			UPI000012A3ED						SNV	PFKFB1,splice_acceptor_variant,,ENST00000375006,NM_001271804.1,NM_002625.3;PFKFB1,splice_acceptor_variant,,ENST00000545676,NM_001271805.1;PFKFB1,splice_acceptor_variant,,ENST00000374992,;	uc004dty.1	c.318_splice	-/1929	5	3			c.318_splice						23	SNP	c.e4-1	51	51			ovary(1)	1	Broad	6-phosphofructo-2-kinase/fructose-2,			54986328		0.443	ENSG00000158571	11566	g.chrX:54986328T>C	energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding							3.303058	KEEP	1	2	-1	12	23	1	2	-1	7.843707	12	23	0.103448	1	0	0	0	0	0	0	0	1	--	--		0	C			PFKFB1_uc010nkd.1_Splice_Site_p.K92_splice|PFKFB1_uc011mol.1_Splice_Site_p.K41_splice	251	GBM-41-2572-TP	p.K106_splice	T	GCGCACTGCCTGAAATAGACC	NM_002625	NP_002616	54986328	P16118	F261_HUMAN	0			4	389	-	C	C			Splice_Site							
PFKFB3	5209	broad.mit.edu	GRCh37	10	6265943	6265943	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379775.4:c.1236C>T	p.Cys412=	p.C412=	ENST00000379775	NM_004566.3	412	tgC/tgT	0			1			T	C	uc001ije.2	protein_coding	YES	CCDS7078.1			1236/1563									ovary(2)|central_nervous_system(1)	3	c.(1234-1236)TGC>TGT			Superfamily_domains:SSF53254,PIRSF_domain:PIRSF000709,Gene3D:3.40.50.1240,hmmpanther:PTHR10606:SF12,hmmpanther:PTHR10606	6-phosphofructo-2-kinase/fructose-2,				ENSP00000369100		15-Dec									COSM465818,COSM465819	15-Dec	.		ENST00000379775	Transcript			fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	ENSG00000170525	g.chr10:6265943C>T	8874			LOW								--	--	1																																		PFKFB3_uc001ijd.2_Silent_p.C392C|PFKFB3_uc009xii.2_RNA|PFKFB3_uc010qaw.1_Silent_p.C426C|PFKFB3_uc001ijf.2_Silent_p.C412C|PFKFB3_uc001ijg.2_5'Flank|PFKFB3_uc009xij.2_5'Flank|PFKFB3_uc009xik.2_5'Flank|PFKFB3_uc009xil.2_5'Flank	1,1	1			p.C412C	NM_004566	NP_004557			1,1	F263_HUMAN	PFKFB3	HGNC	Q16875	F263_HUMAN			Q9UBT0_HUMAN,Q5VX18_HUMAN		12	1620	+			UPI0000001082	412			Fructose-2,6-bisphosphatase.		SNV	PFKFB3,synonymous_variant,p.=,ENST00000379775,NM_004566.3;PFKFB3,synonymous_variant,p.=,ENST00000379789,NM_001145443.1;PFKFB3,synonymous_variant,p.=,ENST00000379785,;PFKFB3,synonymous_variant,p.=,ENST00000540253,NM_001282630.1;PFKFB3,synonymous_variant,p.=,ENST00000317350,;PFKFB3,synonymous_variant,p.=,ENST00000379782,;PFKFB3,synonymous_variant,p.=,ENST00000360521,;PFKFB3,synonymous_variant,p.=,ENST00000450232,;PFKFB3,3_prime_UTR_variant,,ENST00000536985,;PFKFB3,upstream_gene_variant,,ENST00000414237,;PFKFB3,upstream_gene_variant,,ENST00000441697,;PFKFB3,synonymous_variant,p.=,ENST00000467491,;PFKFB3,synonymous_variant,p.=,ENST00000461744,;PFKFB3,synonymous_variant,p.=,ENST00000490474,;PFKFB3,synonymous_variant,p.=,ENST00000477914,;PFKFB3,non_coding_transcript_exon_variant,,ENST00000487989,;PFKFB3,upstream_gene_variant,,ENST00000475881,;	uc001ije.2	c.1236C>T	1566/4483	2	2			c.1236C>T						10	SNP	c.(1234-1236)TGC>TGT	34	34			ovary(2)|central_nervous_system(1)	3	Broad	6-phosphofructo-2-kinase/fructose-2,			6265943		0.423	ENSG00000170525	11568	g.chr10:6265943C>T	fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding							-34.012153	KEEP	6	2	-1	119	85	6	2	-1	9.902512	119	85	0.032609	1	0	0	0	0	0	0	1	0	--	--		0	T			PFKFB3_uc001ijd.2_Silent_p.C392C|PFKFB3_uc009xii.2_RNA|PFKFB3_uc010qaw.1_Silent_p.C426C|PFKFB3_uc001ijf.2_Silent_p.C412C|PFKFB3_uc001ijg.2_5'Flank|PFKFB3_uc009xij.2_5'Flank|PFKFB3_uc009xik.2_5'Flank|PFKFB3_uc009xil.2_5'Flank	100	GBM-06-5418-TP	p.C412C	C	ACCTGAAATGCCCTCTTCACA	NM_004566	NP_004557	6265943	Q16875	F263_HUMAN	0			12	1620	+	T	T			Silent	412			Fructose-2,6-bisphosphatase.			
PFKFB4	0	broad.mit.edu	GRCh37	3	48563038	48563038	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01	TCGA-26-5135-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000232375.3:c.1052G>A	p.Arg351Gln	p.R351Q	ENST00000232375	NM_004567.2	351	cGg/cAg	0			1			T	R/Q	uc003ctv.2	protein_coding	YES	CCDS2771.1			1052/1410									breast(1)	1	c.(1051-1053)CGG>CAG			hmmpanther:PTHR10606:SF14,hmmpanther:PTHR10606,Pfam_domain:PF00300,Gene3D:3.40.50.1240,PIRSF_domain:PIRSF000709,SMART_domains:SM00855,Superfamily_domains:SSF53254	6-phosphofructo-2-kinase/fructose-2,				ENSP00000232375		14-Oct									COSM2157073	14-Oct	.		ENST00000232375	Transcript			fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	ENSG00000114268	g.chr3:48563038C>T	8875			MODERATE		2.72	medium	getma.org/?cm=msa&ty=f&p=F264_HUMAN&rb=251&re=398&var=R351Q	getma.org/pdb.php?prot=F264_HUMAN&from=251&to=398&var=R351Q	getma.org/?cm=var&var=hg19,3,48563038,C,T&fts=all	R351Q	--	--	1																																		PFKFB4_uc003ctw.2_Missense_Mutation_p.R160Q|PFKFB4_uc010hkc.2_Intron|PFKFB4_uc003ctx.2_Missense_Mutation_p.R308Q|PFKFB4_uc010hkb.2_Missense_Mutation_p.R344Q|PFKFB4_uc011bbm.1_Missense_Mutation_p.R340Q|PFKFB4_uc011bbn.1_RNA	1	1		probably_damaging(0.934)	p.R351Q	NM_004567	NP_004558			1	F264_HUMAN	PFKFB4	HGNC	Q16877	F264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	Q64EX5_HUMAN,Q5XLC3_HUMAN,C9JX77_HUMAN		10	1069	-			UPI0000000DCB	351			Fructose-2,6-bisphosphatase.		SNV	PFKFB4,missense_variant,p.Arg351Gln,ENST00000232375,NM_004567.2;PFKFB4,missense_variant,p.Arg317Gln,ENST00000541519,;PFKFB4,missense_variant,p.Arg340Gln,ENST00000536104,;PFKFB4,missense_variant,p.Arg344Gln,ENST00000416568,;PFKFB4,3_prime_UTR_variant,,ENST00000545984,;PFKFB4,intron_variant,,ENST00000383734,;PFKFB4,non_coding_transcript_exon_variant,,ENST00000490115,;PFKFB4,3_prime_UTR_variant,,ENST00000417753,;PFKFB4,3_prime_UTR_variant,,ENST00000445633,;PFKFB4,non_coding_transcript_exon_variant,,ENST00000478516,;	uc003ctv.2	c.1052G>A	1165/3586	2	2			c.1052G>A						3	SNP	c.(1051-1053)CGG>CAG	24	24			breast(1)	1	Broad	6-phosphofructo-2-kinase/fructose-2,			48563038		0.562	ENSG00000114268	11569	g.chr3:48563038C>T	fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity							103.35433	KEEP	16	24	-1	25	43	16	24	-1	104.466102	25	43	0.37931	1	0	0	0	0	1	0	0	0	--	--		0	T			PFKFB4_uc003ctw.2_Missense_Mutation_p.R160Q|PFKFB4_uc010hkc.2_Intron|PFKFB4_uc003ctx.2_Missense_Mutation_p.R308Q|PFKFB4_uc010hkb.2_Missense_Mutation_p.R344Q|PFKFB4_uc011bbm.1_Missense_Mutation_p.R340Q|PFKFB4_uc011bbn.1_RNA	184	GBM-26-5135-TP	p.R351Q	C	GTCCTGGTCCCGCAGGGCGAA	NM_004567	NP_004558	48563038	Q16877	F264_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	10	1069	-	T	T			Missense_Mutation	351			Fructose-2,6-bisphosphatase.			
PFKL	5211	broad.mit.edu	GRCh37	21	45732042	45732042	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000349048.4:c.292C>T	p.Arg98Cys	p.R98C	ENST00000349048	NM_002626.4	98	Cgc/Tgc	0			1			T	R/C	uc002zel.2	protein_coding	YES	CCDS33582.1			292/2343										0	c.(292-294)CGC>TGC			HAMAP:MF_00339,hmmpanther:PTHR13697:SF14,hmmpanther:PTHR13697,Gene3D:3.40.50.450,TIGRFAM_domain:TIGR02478,Pfam_domain:PF00365,PIRSF_domain:PIRSF000533,Superfamily_domains:SSF53784	liver phosphofructokinase				ENSP00000269848		22-Apr									COSM3405442	22-Apr	.		ENST00000349048	Transcript			fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	ENSG00000141959	g.chr21:45732042C>T	8876			MODERATE		3.825	high	getma.org/?cm=msa&ty=f&p=K6PL_HUMAN&rb=16&re=326&var=R98C	getma.org/pdb.php?prot=K6PL_HUMAN&from=16&to=326&var=R98C	getma.org/?cm=var&var=hg19,21,45732042,C,T&fts=all	R98C	--	--	1																																		PFKL_uc002zek.2_Missense_Mutation_p.R145C|PFKL_uc011afd.1_Missense_Mutation_p.R145C	1	1		probably_damaging(0.998)	p.R98C	NM_002626	NP_002617		deleterious(0)	1	K6PL_HUMAN	PFKL	HGNC	P17858	K6PL_HUMAN		Colorectal(79;0.0811)	Q9BSP4_HUMAN,Q7L2M7_HUMAN,Q6MZK4_HUMAN		4	351	+			UPI0000169D5F	98					SNV	PFKL,missense_variant,p.Arg145Cys,ENST00000403390,;PFKL,missense_variant,p.Arg98Cys,ENST00000349048,NM_002626.4;PFKL,non_coding_transcript_exon_variant,,ENST00000496824,;PFKL,non_coding_transcript_exon_variant,,ENST00000491298,;PFKL,3_prime_UTR_variant,,ENST00000397961,;PFKL,non_coding_transcript_exon_variant,,ENST00000466134,;PFKL,upstream_gene_variant,,ENST00000474114,;	uc002zel.2	c.292C>T	347/2912	2	2			c.292C>T						21	SNP	c.(292-294)CGC>TGC	20	20				0	Broad	liver phosphofructokinase			45732042		0.642	ENSG00000141959	11570	g.chr21:45732042C>T	fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding							20.72675	KEEP	4	4	-1	4	1	4	4	-1	20.799828	4	1	0.583333	1	0	0	0	0	1	0	0	0	--	--		0	T			PFKL_uc002zek.2_Missense_Mutation_p.R145C|PFKL_uc011afd.1_Missense_Mutation_p.R145C	102	GBM-06-5858-TP	p.R98C	C	CAGGGAGGGGCGCCGGGCAGC	NM_002626	NP_002617	45732042	P17858	K6PL_HUMAN	0		Colorectal(79;0.0811)	4	351	+	T	T			Missense_Mutation	98						
PFKL	0	broad.mit.edu	GRCh37	21	45732952	45732952	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0781-01	TCGA-14-0781-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000349048.4:c.519C>T	p.Asp173=	p.D173=	ENST00000349048	NM_002626.4	173	gaC/gaT	0			1			T	D	uc002zel.2	protein_coding	YES	CCDS33582.1			519/2343										0	c.(517-519)GAC>GAT			HAMAP:MF_00339,hmmpanther:PTHR13697:SF14,hmmpanther:PTHR13697,Gene3D:3.40.50.450,TIGRFAM_domain:TIGR02478,Pfam_domain:PF00365,PIRSF_domain:PIRSF000533,Superfamily_domains:SSF53784,Prints_domain:PR00476	liver phosphofructokinase				ENSP00000269848		22-May									COSM3405443	22-May	.		ENST00000349048	Transcript			fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	ENSG00000141959	g.chr21:45732952C>T	8876			LOW								--	--	1																																		PFKL_uc002zek.2_Silent_p.D220D|PFKL_uc011afd.1_Silent_p.D220D	1	1			p.D173D	NM_002626	NP_002617			1	K6PL_HUMAN	PFKL	HGNC	P17858	K6PL_HUMAN		Colorectal(79;0.0811)	Q9BSP4_HUMAN,Q7L2M7_HUMAN,Q6MZK4_HUMAN		5	578	+			UPI0000169D5F	173					SNV	PFKL,synonymous_variant,p.=,ENST00000403390,;PFKL,synonymous_variant,p.=,ENST00000349048,NM_002626.4;PFKL,non_coding_transcript_exon_variant,,ENST00000496824,;PFKL,non_coding_transcript_exon_variant,,ENST00000491298,;PFKL,3_prime_UTR_variant,,ENST00000397961,;PFKL,non_coding_transcript_exon_variant,,ENST00000466134,;PFKL,upstream_gene_variant,,ENST00000474114,;	uc002zel.2	c.519C>T	574/2912	1	1			c.519C>T						21	SNP	c.(517-519)GAC>GAT	4	4				0	Broad	liver phosphofructokinase			45732952		0.632	ENSG00000141959	11570	g.chr21:45732952C>T	fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding							-18.792743	KEEP	4	6	-1	77	94	4	6	-1	14.838805	77	94	0.055901	1	0	0	0	0	0	0	1	0	--	--		0	T			PFKL_uc002zek.2_Silent_p.D220D|PFKL_uc011afd.1_Silent_p.D220D	133	GBM-14-0781-TP	p.D173D	C	GCGGCACCGACATGACCATCG	NM_002626	NP_002617	45732952	P17858	K6PL_HUMAN	0		Colorectal(79;0.0811)	5	578	+	T	T			Silent	173						
PFKP	5214		GRCh37	10	3161018	3161018	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000381125.4:c.1487G>A	p.Arg496His	p.R496H	ENST00000381125	NM_002627.4	496	cGc/cAc	0																																																																																																																																																																																																																																												
PGA5	0	broad.mit.edu	GRCh37	11	61018718	61018718	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01	TCGA-28-5209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312403.5:c.1132G>A	p.Ala378Thr	p.A378T	ENST00000312403	NM_014224.2	378	Gca/Aca	0			1			A	A/T	uc001nqz.2	protein_coding	YES	CCDS8001.1			1132/1167									skin(1)	1	c.(1132-1134)GCA>ACA			hmmpanther:PTHR13683:SF239,hmmpanther:PTHR13683,Gene3D:2.40.70.10,Pfam_domain:PF00026,Superfamily_domains:SSF50630	pepsinogen 5, group I precursor				ENSP00000309542		9-Sep									COSM3397967,COSM3397966	9-Sep	.		ENST00000312403	Transcript			digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity	ENSG00000256713	g.chr11:61018718G>A	8887			MODERATE		1.875	low	getma.org/?cm=msa&ty=f&p=PEPA5_HUMAN&rb=201&re=388&var=A378T	getma.org/pdb.php?prot=PEPA5_HUMAN&from=201&to=388&var=A378T	getma.org/?cm=var&var=hg19,11,61018718,G,A&fts=all	A378T	--	--	1																																			1,1	1		benign(0.014)	p.A378T	NM_014224	NP_055039		tolerated(0.06)	1,1	PEPA5_HUMAN	PGA5	HGNC	P00790	PEPA_HUMAN			F5GWT0_HUMAN		9	1162	+			UPI000006CE33	378					SNV	PGA5,missense_variant,p.Ala378Thr,ENST00000312403,NM_014224.2;PGA4,missense_variant,p.Ala378Thr,ENST00000422676,;PGA5,missense_variant,p.Ala224Thr,ENST00000451616,;PGA5,missense_variant,p.Ala118Thr,ENST00000541528,;CTD-2331C18.5,downstream_gene_variant,,ENST00000537594,;	uc001nqz.2	c.1132G>A	1317/1519	1	1			c.1132G>A						11	SNP	c.(1132-1134)GCA>ACA	58	58			skin(1)	1	Broad	pepsinogen 5, group I precursor			61018718		0.557	ENSG00000256713	11577	g.chr11:61018718G>A	digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity							-111.465959	KEEP	4	3	-1	279	311	4	3	-1	8.109551	279	311	0.013544	1	0	0	0	0	1	0	0	0	--	--		0	A				218	GBM-28-5209-TP	p.A378T	G	CTTCGACAGGGCAAACAACCA	NM_014224	NP_055039	61018718	P00790	PEPA_HUMAN	0			9	1162	+	A	A			Missense_Mutation	378						
PGAM4	441531		GRCh37	X	77224407	77224407	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000458128.1:c.729A>G	p.Ile243Met	p.I243M	ENST00000458128	NM_001029891.2	243	atA/atG	0																																																																																																																																																																																																																																												
PGBD1	0	broad.mit.edu	GRCh37	6	28269724	28269724	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01	TCGA-12-1597-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259883.3:c.2093G>A	p.Cys698Tyr	p.C698Y	ENST00000259883		698	tGc/tAc	0			1			A	C/Y	uc003nky.2	protein_coding		CCDS4648.1			2093/2430									ovary(4)	4	c.(2092-2094)TGC>TAC			Pfam_domain:PF13843	piggyBac transposable element derived 1				ENSP00000259883		7-Jul									COSM3410869	7-Jul	.		ENST00000259883	Transcript			viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	ENSG00000137338	g.chr6:28269724G>A	19398			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=PGBD1_HUMAN&rb=418&re=775&var=C698Y	NA	getma.org/?cm=var&var=hg19,6,28269724,G,A&fts=all	C698Y	--	--	1																																		PGBD1_uc003nkz.2_Missense_Mutation_p.C698Y	1			probably_damaging(0.999)	p.C698Y	NM_032507	NP_115896		deleterious(0)	1	PGBD1_HUMAN	PGBD1	HGNC	Q96JS3	PGBD1_HUMAN					7	2463	+			UPI000006ED63	698					SNV	PGBD1,missense_variant,p.Cys698Tyr,ENST00000405948,NM_001184743.1,NM_032507.3;PGBD1,missense_variant,p.Cys698Tyr,ENST00000259883,;	uc003nky.2	c.2093G>A	2498/3100	1	1			c.2093G>A						6	SNP	c.(2092-2094)TGC>TAC	53	53			ovary(4)	4	Broad	piggyBac transposable element derived 1			28269724		0.388	ENSG00000137338	11584	g.chr6:28269724G>A	viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity							229.479423	KEEP	36	52	-1	70	58	36	52	-1	230.796846	70	58	0.411458	1	0	0	0	0	1	0	0	0	--	--		0	A			PGBD1_uc003nkz.2_Missense_Mutation_p.C698Y	124	GBM-12-1597-TP	p.C698Y	G	ATCAGTCTGTGCTCCAATGCT	NM_032507	NP_115896	28269724	Q96JS3	PGBD1_HUMAN	0			7	2463	+	A	A			Missense_Mutation	698						
PGBD1	0	broad.mit.edu	GRCh37	6	28269185	28269186	+	missense_variant	Missense_Mutation	DNP	GT	GT	TA			TCGA-32-2495-01	TCGA-32-2495-01	GT	GT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259883.3:c.1554_1555delGTinsTA	p.LysPhe518AsnIle	p.KF518NI	ENST00000259883		518	aaGTtt/aaTAtt	0			1			TA	KF/NI	uc003nky.2	protein_coding		CCDS4648.1			1554-1555/2430									ovary(4)	4	c.(1552-1557)AAGTTT>AATATT			Pfam_domain:PF13843,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF9	piggyBac transposable element derived 1				ENSP00000259883		7-Jul										7-Jul	.		ENST00000259883	Transcript			viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	ENSG00000137338	g.chr6:28269185_28269186GT>TA	19398			MODERATE								--	--	1																																		PGBD1_uc003nkz.2_Missense_Mutation_p.518_519KF>NI					p.518_519KF>NI	NM_032507	NP_115896				PGBD1_HUMAN	PGBD1	HGNC	Q96JS3	PGBD1_HUMAN					7	1924_1925	+			UPI000006ED63	518_519					substitution	PGBD1,missense_variant,p.LysPhe518AsnIle,ENST00000405948,NM_001184743.1,NM_032507.3;PGBD1,missense_variant,p.LysPhe518AsnIle,ENST00000259883,;	uc003nky.2	c.1554_1555GT>TA	1959-1960/3100	1	1			c.1554_1555GT>TA						6	DNP	c.(1552-1557)AAGTTT>AATATT	1	1			ovary(4)	4	Broad	piggyBac transposable element derived 1			28269186		0.356	ENSG00000137338	11584	g.chr6:28269185_28269186GT>TA	viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity							-48.131929	KEEP	0	0	-1	0	0	0	0	-1	7.742974	0	0	0.022727	1	0	0	0	0	1	0	0	0	--	--		0	TA			PGBD1_uc003nkz.2_Missense_Mutation_p.518_519KF>NI	237	GBM-32-2495-TP	p.518_519KF>NI	GT	AAAAAGATAAGTTTACAAAGTT	NM_032507	NP_115896	28269185	Q96JS3	PGBD1_HUMAN	0			7	1924_1925	+	TA	TA			Missense_Mutation	518_519						
PGK1	0	broad.mit.edu	GRCh37	X	77378404	77378404	+	synonymous_variant	Silent	SNP	T	T	A			TCGA-32-1982-01	TCGA-32-1982-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373316.4:c.714T>A	p.Gly238=	p.G238=	ENST00000373316	NM_000291.3	238	ggT/ggA	0			1			A	G	uc004ecz.3	protein_coding	YES	CCDS14438.1			714/1254									upper_aerodigestive_tract(1)|ovary(1)	2	c.(712-714)GGT>GGA			HAMAP:MF_00145,hmmpanther:PTHR11406,hmmpanther:PTHR11406:SF3,Pfam_domain:PF00162,Gene3D:3.40.50.1270,PIRSF_domain:PIRSF000724,Superfamily_domains:SSF53748	phosphoglycerate kinase 1				ENSP00000362413		11-Jul									COSM3406611	11-Jul	.		ENST00000373316	Transcript	1		gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	ENSG00000102144	g.chrX:77378404T>A	8896			LOW								--	--	1																																		PGK1_uc010nlz.2_RNA|PGK1_uc011mqq.1_Silent_p.G210G	1	1			p.G238G	NM_000291	NP_000282			1	PGK1_HUMAN	PGK1	HGNC	P00558	PGK1_HUMAN			B7Z7A9_HUMAN,B4DHM5_HUMAN		7	886	+			UPI00000727EE	238					SNV	PGK1,synonymous_variant,p.=,ENST00000373316,NM_000291.3;PGK1,synonymous_variant,p.=,ENST00000537456,;PGK1,synonymous_variant,p.=,ENST00000442431,;PGK1,non_coding_transcript_exon_variant,,ENST00000474281,;PGK1,upstream_gene_variant,,ENST00000476531,;PGK1,downstream_gene_variant,,ENST00000491291,;	uc004ecz.3	c.714T>A	881/4887	2	2			c.714T>A						23	SNP	c.(712-714)GGT>GGA	46	46			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	phosphoglycerate kinase 1			77378404		0.398	ENSG00000102144	11594	g.chrX:77378404T>A	gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity							-30.322114	KEEP	4	1	-1	80	91	4	1	-1	7.385239	80	91	0.026316	1	0	0	0	0	0	0	1	0	--	--		0	A			PGK1_uc010nlz.2_RNA|PGK1_uc011mqq.1_Silent_p.G210G	232	GBM-32-1982-TP	p.G238G	T	TTATTGGTGGTGGAATGGCTT	NM_000291	NP_000282	77378404	P00558	PGK1_HUMAN	0			7	886	+	A	A			Silent	238						
PGK1	0	broad.mit.edu	GRCh37	X	77372859	77372860	+	missense_variant	Missense_Mutation	DNP	GC	GC	CT			TCGA-32-4208-01	TCGA-32-4208-01	GC	GC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373316.4:c.468_469delGCinsCT	p.Lys156Asn	p.K156N	ENST00000373316	NM_000291.3	156	aaGCta/aaCTta	0			1			CT	KL/NL	uc004ecz.3	protein_coding	YES	CCDS14438.1			468-469/1254									upper_aerodigestive_tract(1)|ovary(1)	2	c.(466-471)AAGCTA>AACTTA			HAMAP:MF_00145,hmmpanther:PTHR11406,hmmpanther:PTHR11406:SF3,Gene3D:3.40.50.1260,Pfam_domain:PF00162,PIRSF_domain:PIRSF000724,Superfamily_domains:SSF53748,Prints_domain:PR00477	phosphoglycerate kinase 1				ENSP00000362413		11-May										11-May	.		ENST00000373316	Transcript	1		gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	ENSG00000102144	g.chrX:77372859_77372860GC>CT	8896			MODERATE								--	--	1																																		PGK1_uc010nlz.2_RNA|PGK1_uc011mqq.1_Missense_Mutation_p.K128N		1			p.K156N	NM_000291	NP_000282				PGK1_HUMAN	PGK1	HGNC	P00558	PGK1_HUMAN			B7Z7A9_HUMAN,B4DHM5_HUMAN		5	640_641	+			UPI00000727EE	156					substitution	PGK1,missense_variant,p.Lys156Asn,ENST00000373316,NM_000291.3;PGK1,missense_variant,p.Lys128Asn,ENST00000537456,;PGK1,intron_variant,,ENST00000442431,;PGK1,non_coding_transcript_exon_variant,,ENST00000491291,;PGK1,downstream_gene_variant,,ENST00000477335,;	uc004ecz.3	c.468_469GC>CT	635-636/4887	3	3			c.468_469GC>CT						23	DNP	c.(466-471)AAGCTA>AACTTA	12	12			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	phosphoglycerate kinase 1			77372860		0.426	ENSG00000102144	11594	g.chrX:77372859_77372860GC>CT	gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity							0.048495	KEEP	0	0	-1	0	0	0	0	-1	11.457239	0	0	0.067797	1	0	0	0	0	1	0	0	0	--	--		0	CT			PGK1_uc010nlz.2_RNA|PGK1_uc011mqq.1_Missense_Mutation_p.K128N	243	GBM-32-4208-TP	p.K156N	GC	CACTTTCCAAGCTAGGGGATGT	NM_000291	NP_000282	77372859	P00558	PGK1_HUMAN	0			5	640_641	+	CT	CT			Missense_Mutation	156						
PGK2	0	broad.mit.edu	GRCh37	6	49754282	49754282	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304801.3:c.619C>A	p.Pro207Thr	p.P207T	ENST00000304801	NM_138733.4	207	Ccc/Acc	0			1			T	P/T	uc003ozu.2	protein_coding	YES	CCDS4930.1			619/1254									ovary(1)	1	c.(619-621)CCC>ACC			HAMAP:MF_00145,hmmpanther:PTHR11406,hmmpanther:PTHR11406:SF4,Gene3D:3.40.50.1270,Pfam_domain:PF00162,PIRSF_domain:PIRSF000724,Superfamily_domains:SSF53748,Prints_domain:PR00477	phosphoglycerate kinase 2				ENSP00000305995		1-Jan									COSM2156086	1-Jan	.		ENST00000304801	Transcript			glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	ENSG00000170950	g.chr6:49754282G>T	8898			MODERATE		4.13	high	getma.org/?cm=msa&ty=f&p=PGK2_HUMAN&rb=8&re=406&var=P207T	getma.org/pdb.php?prot=PGK2_HUMAN&from=8&to=406&var=P207T	getma.org/?cm=var&var=hg19,6,49754282,G,T&fts=all	P207T	--	--	1																																			1	1		possibly_damaging(0.889)	p.P207T	NM_138733	NP_620061		deleterious(0)	1	PGK2_HUMAN	PGK2	HGNC	P07205	PGK2_HUMAN					1	726	-	Lung NSC(77;0.0402)		UPI0000001C72	207					SNV	PGK2,missense_variant,p.Pro207Thr,ENST00000304801,NM_138733.4;	uc003ozu.2	c.619C>A	772/1688	2	2			c.619C>A						6	SNP	c.(619-621)CCC>ACC	48	48			ovary(1)	1	Broad	phosphoglycerate kinase 2			49754282		0.428	ENSG00000170950	11595	g.chr6:49754282G>T	glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity							148.5762	KEEP	21	43	0.328125	103	137	21	43	0.328125	166.951329	103	137	0.224335	1	0	0	0	0	1	0	0	0	--	--		0	T				160	GBM-19-1790-TP	p.P207T	G	GCCAGAAAGGGTCTCACTGGG	NM_138733	NP_620061	49754282	P07205	PGK2_HUMAN	0			1	726	-	T	T	Lung NSC(77;0.0402)		Missense_Mutation	207						
PGK2	0	broad.mit.edu	GRCh37	6	49754388	49754388	+	synonymous_variant	Silent	SNP	G	G	A	rs147140024	byFrequency	TCGA-28-5214-01	TCGA-28-5214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304801.3:c.513C>T	p.Arg171=	p.R171=	ENST00000304801	NM_138733.4	171	cgC/cgT	0	A:0.0002		1			A	R	uc003ozu.2	protein_coding	YES	CCDS4930.1			513/1254									ovary(1)	1	c.(511-513)CGC>CGT			HAMAP:MF_00145,hmmpanther:PTHR11406,hmmpanther:PTHR11406:SF4,Gene3D:3.40.50.1260,Pfam_domain:PF00162,PIRSF_domain:PIRSF000724,Superfamily_domains:SSF53748,Prints_domain:PR00477	phosphoglycerate kinase 2			A:0.0002	ENSP00000305995		1-Jan	2.47E-05	9.62E-05				3.00E-05			rs147140024,COSM3354120	1-Jan	.		ENST00000304801	Transcript			glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	ENSG00000170950	g.chr6:49754388G>A	8898			LOW								--	--	1																																			0,1	1			p.R171R	NM_138733	NP_620061			0,1	PGK2_HUMAN	PGK2	HGNC	P07205	PGK2_HUMAN					1	620	-	Lung NSC(77;0.0402)		UPI0000001C72	171				Substrate (By similarity).	SNV	PGK2,synonymous_variant,p.=,ENST00000304801,NM_138733.4;	uc003ozu.2	c.513C>T	666/1688	1	1			c.513C>T						6	SNP	c.(511-513)CGC>CGT	55	55			ovary(1)	1	Broad	phosphoglycerate kinase 2			49754388		0.458	ENSG00000170950	11595	g.chr6:49754388G>A	glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity							141.874527	KEEP	23	32	-1	72	56	23	32	-1	147.456599	72	56	0.310345	1	0	0	0	0	0	0	1	0	--	--		0	A				221	GBM-28-5214-TP	p.R171R	G	AACTATGAGCGCGGTGTGCAG	NM_138733	NP_620061	49754388	P07205	PGK2_HUMAN	0			1	620	-	A	A	Lung NSC(77;0.0402)		Silent	171				Substrate (By similarity).		
PGLYRP2	0	broad.mit.edu	GRCh37	19	15586693	15586693	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2499-01	TCGA-28-2499-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340880.4:c.788C>T	p.Pro263Leu	p.P263L	ENST00000340880	NM_052890.3	263	cCc/cTc	0			1			A	P/L	uc002nbf.3	protein_coding	YES	CCDS12330.2			788/1731									ovary(3)	3	c.(787-789)CCC>CTC			hmmpanther:PTHR11022,hmmpanther:PTHR11022:SF13	peptidoglycan recognition protein 2 precursor				ENSP00000345968		5-Feb	1.65E-05					3.04E-05			rs773808477,COSM3403862,COSM3403863	5-Feb	.		ENST00000340880	Transcript			defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	ENSG00000161031	g.chr19:15586693G>A	30013			MODERATE		1.545	low	getma.org/?cm=msa&ty=f&p=PGRP2_HUMAN&rb=1&re=369&var=P263L	NA	getma.org/?cm=var&var=hg19,19,15586693,G,A&fts=all	P263L	--	--	1																																		PGLYRP2_uc002nbg.3_Missense_Mutation_p.P263L	0,1,1	1		possibly_damaging(0.461)	p.P263L	NM_052890	NP_443122		deleterious(0)	0,1,1	PGRP2_HUMAN	PGLYRP2	HGNC	Q96PD5	PGRP2_HUMAN			M0R2W8_HUMAN,M0QYW3_HUMAN		2	921	-			UPI000004EEA6	263					SNV	PGLYRP2,missense_variant,p.Pro263Leu,ENST00000292609,;PGLYRP2,missense_variant,p.Pro263Leu,ENST00000340880,NM_052890.3;PGLYRP2,downstream_gene_variant,,ENST00000594637,;PGLYRP2,downstream_gene_variant,,ENST00000601792,;	uc002nbf.3	c.788C>T	1269/2230	2	2			c.788C>T						19	SNP	c.(787-789)CCC>CTC	47	47			ovary(3)	3	Broad	peptidoglycan recognition protein 2 precursor			15586693		0.617	ENSG00000161031	11598	g.chr19:15586693G>A	defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding							-14.451854	KEEP	1	2	-1	36	56	1	2	-1	6.352431	36	56	0.034091	1	0	0	0	0	1	0	0	0	--	--		0	A			PGLYRP2_uc002nbg.3_Missense_Mutation_p.P263L	208	GBM-28-2499-TP	p.P263L	G	AGATGCCTTGGGGTCCAAAAG	NM_052890	NP_443122	15586693	Q96PD5	PGRP2_HUMAN	0			2	921	-	A	A			Missense_Mutation	263						
PGLYRP4	57115	broad.mit.edu	GRCh37	1	153313050	153313050	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-02-2483-01	TCGA-02-2483-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359650.5:c.631C>G	p.Pro211Ala	p.P211A	ENST00000359650	NM_020393.2	211	Ccc/Gcc	0			1			C	P/A	uc001fbo.2	protein_coding	YES	CCDS30871.1			631/1122									ovary(3)|skin(1)	4	c.(631-633)CCC>GCC			hmmpanther:PTHR11022,hmmpanther:PTHR11022:SF12,Gene3D:3.40.80.10,Pfam_domain:PF01510,SMART_domains:SM00644,SMART_domains:SM00701,Superfamily_domains:SSF55846,Superfamily_domains:SSF55846	peptidoglycan recognition protein-I-beta				ENSP00000352672		9-Jul									COSM3399761	9-Jul	.		ENST00000359650	Transcript			defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	ENSG00000163218	g.chr1:153313050G>C	30015			MODERATE		2.65	medium	getma.org/?cm=msa&ty=f&p=PGRP4_HUMAN&rb=68&re=214&var=P211A	getma.org/pdb.php?prot=PGRP4_HUMAN&from=68&to=214&var=P211A	getma.org/?cm=var&var=hg19,1,153313050,G,C&fts=all	P211A	--	--	1																																		PGLYRP4_uc001fbp.2_Missense_Mutation_p.P207A	1	1		benign(0.317)	p.P211A	NM_020393	NP_065126		deleterious(0.03)	1	PGRP4_HUMAN	PGLYRP4	HGNC	Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)				7	696	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		UPI000013F78A	211					SNV	PGLYRP4,missense_variant,p.Pro207Ala,ENST00000368739,;PGLYRP4,missense_variant,p.Pro211Ala,ENST00000359650,NM_020393.2;PGLYRP4,downstream_gene_variant,,ENST00000490266,;	uc001fbo.2	c.631C>G	696/1834	3	3			c.631C>G						1	SNP	c.(631-633)CCC>GCC	3	3			ovary(3)|skin(1)	4	Broad	peptidoglycan recognition protein-I-beta			153313050		0.587	ENSG00000163218	11600	g.chr1:153313050G>C	defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding							12.09225	KEEP	1	9	-1	28	35	1	9	-1	21.182773	28	35	0.138889	1	0	0	0	0	1	0	0	0	--	--		0	C			PGLYRP4_uc001fbp.2_Missense_Mutation_p.P207A	6	GBM-02-2483-TP	p.P211A	G	ACAACGCCGGGGCAAGCTGAG	NM_020393	NP_065126	153313050	Q96LB8	PGRP4_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.171)		7	696	-	C	C	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		Missense_Mutation	211						
PGM1	0	broad.mit.edu	GRCh37	1	64100595	64100595	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01	TCGA-14-1395-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371084.3:c.778C>T	p.His260Tyr	p.H260Y	ENST00000371084	NM_002633.2	260	Cac/Tac	0			1			T	H/Y	uc001dbh.2	protein_coding		CCDS625.1			778/1689									ovary(2)|kidney(1)	3	c.(778-780)CAC>TAC			Gene3D:3.40.120.10,Pfam_domain:PF02879,Prints_domain:PR00509,hmmpanther:PTHR22573,hmmpanther:PTHR22573:SF37,Superfamily_domains:SSF53738	phosphoglucomutase 1				ENSP00000360125		11-May									COSM3400947,COSM3400946	11-May	.		ENST00000371084	Transcript	1		cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity	ENSG00000079739	g.chr1:64100595C>T	8905			MODERATE		3.25	medium	getma.org/?cm=msa&ty=f&p=PGM1_HUMAN&rb=193&re=301&var=H260Y	getma.org/pdb.php?prot=PGM1_HUMAN&from=193&to=301&var=H260Y	getma.org/?cm=var&var=hg19,1,64100595,C,T&fts=all	H260Y	--	--	1																																		PGM1_uc010ooy.1_Missense_Mutation_p.H63Y|PGM1_uc010ooz.1_Missense_Mutation_p.H278Y	1,1			possibly_damaging(0.726)	p.H260Y	NM_002633	NP_002624		tolerated(0.2)	1,1	PGM1_HUMAN	PGM1	HGNC	P36871	PGM1_HUMAN					5	991	+			UPI000000105F	260					SNV	PGM1,missense_variant,p.His278Tyr,ENST00000371083,NM_001172818.1;PGM1,missense_variant,p.His260Tyr,ENST00000371084,NM_002633.2;PGM1,missense_variant,p.His63Tyr,ENST00000540265,NM_001172819.1;	uc001dbh.2	c.778C>T	991/2472	2	2			c.778C>T						1	SNP	c.(778-780)CAC>TAC	36	36			ovary(2)|kidney(1)	3	Broad	phosphoglucomutase 1			64100595		0.547	ENSG00000079739	11601	g.chr1:64100595C>T	cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity							-48.237889	KEEP	3	3	-1	120	138	3	3	-1	10.928206	120	138	0.025316	1	0	0	0	0	1	0	0	0	--	--		0	T			PGM1_uc010ooy.1_Missense_Mutation_p.H63Y|PGM1_uc010ooz.1_Missense_Mutation_p.H278Y	144	GBM-14-1395-TP	p.H260Y	C	CTTTGGAGGCCACCACCCTGA	NM_002633	NP_002624	64100595	P36871	PGM1_HUMAN	0			5	991	+	T	T			Missense_Mutation	260						
PGM5	5239	broad.mit.edu	GRCh37	9	71080089	71080089	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs141668530		TCGA-06-0152-01	TCGA-06-0152-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396396.1:c.1124G>A	p.Arg375His	p.R375H	ENST00000396396	NM_021965.3	375	cGt/cAt	0	A:0.0002		1			A	R/H	uc004agr.2	protein_coding	YES	CCDS6622.2			1124/1704									ovary(1)|pancreas(1)	2	c.(1123-1125)CGT>CAT			hmmpanther:PTHR22573,hmmpanther:PTHR22573:SF27,Gene3D:3.40.120.10,Pfam_domain:PF02880,Superfamily_domains:SSF53738	phosphoglucomutase 5			A:0	ENSP00000379678		11-Jul	8.24E-06			0.000116					rs141668530,COSM1490078	11-Jul	.		ENST00000396396	Transcript			cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	ENSG00000154330	g.chr9:71080089G>A	8908			MODERATE		3.275	medium	getma.org/?cm=msa&ty=f&p=PGM5_HUMAN&rb=311&re=425&var=R375H	getma.org/pdb.php?prot=PGM5_HUMAN&from=311&to=425&var=R375H	getma.org/?cm=var&var=hg19,9,71080089,G,A&fts=all	R375H	--	--	1																																			0,1	1		probably_damaging(0.932)	p.R375H	NM_021965	NP_068800		deleterious(0.01)	0,1	PGM5_HUMAN	PGM5	HGNC	Q15124	PGM5_HUMAN					7	1353	+			UPI0000210ABF	375					SNV	PGM5,missense_variant,p.Arg375His,ENST00000396396,NM_021965.3;PGM5,missense_variant,p.Arg375His,ENST00000396392,;PGM5,non_coding_transcript_exon_variant,,ENST00000472639,;	uc004agr.2	c.1124G>A	1353/3338	2	2			c.1124G>A						9	SNP	c.(1123-1125)CGT>CAT	36	36			ovary(1)|pancreas(1)	2	Broad	phosphoglucomutase 5			71080089		0.473	ENSG00000154330	11605	g.chr9:71080089G>A	cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity							255.294736	KEEP	57	53	-1	103	103	57	53	-1	260.772361	103	103	0.344961	1	0	0	0	0	1	0	0	0	--	--		0	A				25	GBM-06-0152-TP	p.R375H	G	GACTCAGGACGTTGCAATCTG	NM_021965	NP_068800	71080089	Q15124	PGM5_HUMAN	0			7	1353	+	A	A			Missense_Mutation	375						
PGM5	0	broad.mit.edu	GRCh37	9	70999452	70999452	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-12-1597-01	TCGA-12-1597-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396396.1:c.563C>A	p.Pro188Gln	p.P188Q	ENST00000396396	NM_021965.3	188	cCa/cAa	0			1			A	P/Q	uc004agr.2	protein_coding	YES	CCDS6622.2			563/1704									ovary(1)|pancreas(1)	2	c.(562-564)CCA>CAA			hmmpanther:PTHR22573,hmmpanther:PTHR22573:SF27,Gene3D:3.40.120.10,Superfamily_domains:SSF53738	phosphoglucomutase 5				ENSP00000379678		11-Mar									COSM3413692	11-Mar	.		ENST00000396396	Transcript			cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	ENSG00000154330	g.chr9:70999452C>A	8908			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=PGM5_HUMAN&rb=164&re=197&var=P188Q	getma.org/pdb.php?prot=PGM5_HUMAN&from=164&to=197&var=P188Q	getma.org/?cm=var&var=hg19,9,70999452,C,A&fts=all	P188Q	--	--	1																																			1	1		benign(0.378)	p.P188Q	NM_021965	NP_068800		tolerated(0.14)	1	PGM5_HUMAN	PGM5	HGNC	Q15124	PGM5_HUMAN					3	792	+			UPI0000210ABF	188					SNV	PGM5,missense_variant,p.Pro188Gln,ENST00000396396,NM_021965.3;PGM5,missense_variant,p.Pro188Gln,ENST00000396392,;PGM5,intron_variant,,ENST00000431583,;PGM5,non_coding_transcript_exon_variant,,ENST00000604870,;	uc004agr.2	c.563C>A	792/3338	2	2			c.563C>A						9	SNP	c.(562-564)CCA>CAA	43	43			ovary(1)|pancreas(1)	2	Broad	phosphoglucomutase 5			70999452		0.378	ENSG00000154330	11605	g.chr9:70999452C>A	cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity							124.108506	KEEP	20	21	0.512195122	32	26	20	21	0.512195122	124.513995	32	26	0.428571	1	0	0	0	0	1	0	0	0	--	--		0	A				124	GBM-12-1597-TP	p.P188Q	C	AAATTCAAACCATTCAGAGGT	NM_021965	NP_068800	70999452	Q15124	PGM5_HUMAN	0			3	792	+	A	A			Missense_Mutation	188						
PGM5	0	broad.mit.edu	GRCh37	9	71098902	71098902	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01	TCGA-76-4926-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396396.1:c.1417G>A	p.Val473Met	p.V473M	ENST00000396396	NM_021965.3	473	Gtg/Atg	0			1			A	V/M	uc004agr.2	protein_coding	YES	CCDS6622.2			1417/1704									ovary(1)|pancreas(1)	2	c.(1417-1419)GTG>ATG			hmmpanther:PTHR22573,hmmpanther:PTHR22573:SF27,Gene3D:3.30.310.50,Superfamily_domains:SSF55957	phosphoglucomutase 5				ENSP00000379678		11-Sep	2.47E-05			0.000116		3.00E-05			rs781901814,COSM2778401	11-Sep	.		ENST00000396396	Transcript			cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	ENSG00000154330	g.chr9:71098902G>A	8908			MODERATE		3.4	medium	getma.org/?cm=msa&ty=f&p=PGM5_HUMAN&rb=426&re=567&var=V473M	getma.org/pdb.php?prot=PGM5_HUMAN&from=426&to=567&var=V473M	getma.org/?cm=var&var=hg19,9,71098902,G,A&fts=all	V473M	--	--	1																																			0,1	1		probably_damaging(0.994)	p.V473M	NM_021965	NP_068800		deleterious(0.01)	0,1	PGM5_HUMAN	PGM5	HGNC	Q15124	PGM5_HUMAN					9	1646	+			UPI0000210ABF	473					SNV	PGM5,missense_variant,p.Val473Met,ENST00000396396,NM_021965.3;PGM5,non_coding_transcript_exon_variant,,ENST00000472639,;	uc004agr.2	c.1417G>A	1646/3338	2	2			c.1417G>A						9	SNP	c.(1417-1419)GTG>ATG	34	34			ovary(1)|pancreas(1)	2	Broad	phosphoglucomutase 5			71098902		0.502	ENSG00000154330	11605	g.chr9:71098902G>A	cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity							136.455604	KEEP	25	30	-1	55	52	25	30	-1	138.79706	55	52	0.363636	1	0	0	0	0	1	0	0	0	--	--		0	A				266	GBM-76-4926-TP	p.V473M	G	TGTCTACAGCGTGGCGAAGAC	NM_021965	NP_068800	71098902	Q15124	PGM5_HUMAN	0			9	1646	+	A	A			Missense_Mutation	473						
PGP	0	broad.mit.edu	GRCh37	16	2263929	2263929	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-2625-01	TCGA-19-2625-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333503.7:c.766G>T	p.Val256Phe	p.V256F	ENST00000333503	NM_001042371.2	256	Gtc/Ttc	0			1			A	V/F	uc002cpk.1	protein_coding	YES	CCDS42104.1			766/966									skin(1)	1	c.(766-768)GTC>TTC			hmmpanther:PTHR19288,hmmpanther:PTHR19288:SF37,Gene3D:3.40.50.1000,Pfam_domain:PF13242,TIGRFAM_domain:TIGR01460,TIGRFAM_domain:TIGR01452,PIRSF_domain:PIRSF000915,Superfamily_domains:SSF56784	phosphoglycolate phosphatase				ENSP00000330918		2-Feb									COSM3402183	2-Feb	.		ENST00000333503	Transcript			carbohydrate metabolic process		phosphoglycolate phosphatase activity	ENSG00000184207	g.chr16:2263929C>A	8909			MODERATE		1.92	medium	getma.org/?cm=msa&ty=f&p=PGP_HUMAN&rb=232&re=315&var=V256F	getma.org/pdb.php?prot=PGP_HUMAN&from=232&to=315&var=V256F	getma.org/?cm=var&var=hg19,16,2263929,C,A&fts=all	V256F	--	--	1																																		C16orf79_uc002cpi.1_5'Flank|C16orf79_uc010bsh.2_5'Flank|PGP_uc010uvz.1_RNA	1	1		possibly_damaging(0.743)	p.V256F	NM_001042371	NP_001035830		deleterious(0.01)	1	PGP_HUMAN	PGP	HGNC	A6NDG6	PGP_HUMAN					2	810	-			UPI00000473F8	256					SNV	PGP,missense_variant,p.Val256Phe,ENST00000333503,NM_001042371.2;BRICD5,upstream_gene_variant,,ENST00000328540,NM_182563.3;MLST8,downstream_gene_variant,,ENST00000569417,NM_022372.4;MLST8,downstream_gene_variant,,ENST00000564088,NM_001199173.1;MLST8,downstream_gene_variant,,ENST00000382450,NM_001199175.1;MLST8,downstream_gene_variant,,ENST00000301724,;MLST8,downstream_gene_variant,,ENST00000397124,NM_001199174.1;MLST8,downstream_gene_variant,,ENST00000565250,;MLST8,downstream_gene_variant,,ENST00000301725,;BRICD5,upstream_gene_variant,,ENST00000562360,;BRICD5,upstream_gene_variant,,ENST00000566018,;RP11-304L19.8,downstream_gene_variant,,ENST00000561544,;MLST8,downstream_gene_variant,,ENST00000568194,;MLST8,downstream_gene_variant,,ENST00000568542,;MLST8,downstream_gene_variant,,ENST00000562392,;MLST8,downstream_gene_variant,,ENST00000563067,;MLST8,downstream_gene_variant,,ENST00000566835,;MLST8,downstream_gene_variant,,ENST00000565330,;PGP,upstream_gene_variant,,ENST00000562001,;BRICD5,upstream_gene_variant,,ENST00000566795,;	uc002cpk.1	c.766G>T	796/2727	2	2			c.766G>T						16	SNP	c.(766-768)GTC>TTC	22	22			skin(1)	1	Broad	phosphoglycolate phosphatase			2263929		0.632	ENSG00000184207	11606	g.chr16:2263929C>A	carbohydrate metabolic process		phosphoglycolate phosphatase activity	GBM(63;906 1080 2092 17773 18795)			GBM(63;906 1080 2092 17773 18795)			-47.88584	KEEP	3	1	0.25	112	110	3	1	0.25	6.448997	112	110	0.019139	1	0	0	0	0	1	0	0	0	--	--		0	A			C16orf79_uc002cpi.1_5'Flank|C16orf79_uc010bsh.2_5'Flank|PGP_uc010uvz.1_RNA	165	GBM-19-2625-TP	p.V256F	C	CCCACCATGACGGTGCGCTCG	NM_001042371	NP_001035830	2263929	A6NDG6	PGP_HUMAN	0			2	810	-	A	A			Missense_Mutation	256						
PGPEP1	0	broad.mit.edu	GRCh37	19	18468321	18468321	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2632-01	TCGA-32-2632-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269919.6:c.333C>T	p.Asp111=	p.D111=	ENST00000269919	NM_017712.2	111	gaC/gaT	0			1			T	D	uc002nis.1	protein_coding	YES	CCDS12375.1			333/630										0	c.(331-333)GAC>GAT			Superfamily_domains:SSF53182,PIRSF_domain:PIRSF015592,Gene3D:3.40.630.20,Pfam_domain:PF01470,hmmpanther:PTHR23402:SF11,hmmpanther:PTHR23402	pyroglutamyl-peptidase I				ENSP00000269919		5-Apr	1.65E-05	0.000106				1.62E-05			rs756829466,COSM3403958	5-Apr	.		ENST00000269919	Transcript					cysteine-type peptidase activity	ENSG00000130517	g.chr19:18468321C>T	13568			LOW								--	--	1																																		PGPEP1_uc002nir.1_RNA|PGPEP1_uc002nit.1_Silent_p.D34D|PGPEP1_uc010xqg.1_Silent_p.D34D	0,1	1			p.D111D	NM_017712	NP_060182			0,1	PGPI_HUMAN	PGPEP1	HGNC	Q9NXJ5	PGPI_HUMAN			U3KQG9_HUMAN,Q8IVT1_HUMAN		4	417	+			UPI0000049B15	111					SNV	PGPEP1,synonymous_variant,p.=,ENST00000269919,NM_017712.2;PGPEP1,synonymous_variant,p.=,ENST00000252813,;PGPEP1,synonymous_variant,p.=,ENST00000604499,;PGPEP1,synonymous_variant,p.=,ENST00000595066,;PGPEP1,synonymous_variant,p.=,ENST00000595552,;PGPEP1,synonymous_variant,p.=,ENST00000597663,;PGPEP1,intron_variant,,ENST00000597431,;PGPEP1,3_prime_UTR_variant,,ENST00000600283,;PGPEP1,3_prime_UTR_variant,,ENST00000596962,;	uc002nis.1	c.333C>T	428/7092	2	2			c.333C>T						19	SNP	c.(331-333)GAC>GAT	29	29				0	Broad	pyroglutamyl-peptidase I			18468321		0.592	ENSG00000130517	11607	g.chr19:18468321C>T			cysteine-type peptidase activity							-1.911257	KEEP	0	3	-1	25	22	0	3	-1	7.116946	25	22	0.065217	1	0	0	0	0	0	0	1	0	--	--		0	T			PGPEP1_uc002nir.1_RNA|PGPEP1_uc002nit.1_Silent_p.D34D|PGPEP1_uc010xqg.1_Silent_p.D34D	240	GBM-32-2632-TP	p.D111D	C	GCGTGGAGGACGGGCCTGAAA	NM_017712	NP_060182	18468321	Q9NXJ5	PGPI_HUMAN	0			4	417	+	T	T			Silent	111						
PGPEP1L	0	broad.mit.edu	GRCh37	15	99512679	99512679	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01	TCGA-32-1970-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378919.6:c.346G>A	p.Val116Met	p.V116M	ENST00000378919	NM_001102612.2	116	Gtg/Atg	0	T:0		1			T	V/M	uc002bum.2	protein_coding	YES	CCDS53977.1			346/591										0	c.(346-348)GTG>ATG			hmmpanther:PTHR23402:SF14,hmmpanther:PTHR23402,Pfam_domain:PF01470,Gene3D:3.40.630.20,Superfamily_domains:SSF53182	pyroglutamyl-peptidase 1-like protein			T:0.0001	ENSP00000368199		5-Apr	1.65E-05					3.00E-05			rs372203076,COSM3402039	5-Apr	.		ENST00000378919	Transcript			proteolysis		cysteine-type peptidase activity	ENSG00000183571	g.chr15:99512679C>T	27080			MODERATE		2.93	medium	getma.org/?cm=msa&ty=f&p=PGPIL_HUMAN&rb=5&re=155&var=V116M	getma.org/pdb.php?prot=PGPIL_HUMAN&from=5&to=155&var=V116M	getma.org/?cm=var&var=hg19,15,99512679,C,T&fts=all	V116M	--	--	1																																		PGPEP1L_uc010bop.2_Missense_Mutation_p.V62M|PGPEP1L_uc002bun.2_RNA	0,1	1		possibly_damaging(0.818)	p.V116M	NM_001102612	NP_001096082		deleterious(0.03)	0,1	PGPIL_HUMAN	PGPEP1L	HGNC	A6NFU8	PGPIL_HUMAN			H0YF86_HUMAN		4	552	-			UPI00006C1572	116					SNV	PGPEP1L,missense_variant,p.Val62Met,ENST00000535714,NM_001167902.1;PGPEP1L,missense_variant,p.Val116Met,ENST00000378919,NM_001102612.2;IGF1R,downstream_gene_variant,,ENST00000268035,NM_000875.3;IGF1R,downstream_gene_variant,,ENST00000558762,;RP11-654A16.3,intron_variant,,ENST00000559468,;	uc002bum.2	c.346G>A	552/995	2	2			c.346G>A						15	SNP	c.(346-348)GTG>ATG	28	28				0	Broad	pyroglutamyl-peptidase 1-like protein			99512679		0.627	ENSG00000183571	11608	g.chr15:99512679C>T	proteolysis		cysteine-type peptidase activity							209.675728	KEEP	33	44	-1	56	43	33	44	-1	210.158246	56	43	0.441718	1	0	0	0	0	1	0	0	0	--	--		0	T			PGPEP1L_uc010bop.2_Missense_Mutation_p.V62M|PGPEP1L_uc002bun.2_RNA	228	GBM-32-1970-TP	p.V116M	C	GAAAAGATCACGTCGACACCC	NM_001102612	NP_001096082	99512679	A6NFU8	PGPIL_HUMAN	0			4	552	-	T	T			Missense_Mutation	116						
PGR	5241	broad.mit.edu	GRCh37	11	100999454	100999454	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0192-01	TCGA-06-0192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325455.5:c.348C>G	p.Asp116Glu	p.D116E	ENST00000325455	NM_001202474.3	116	gaC/gaG	0			1			C	D/E	uc001pgh.2	protein_coding	YES	CCDS8310.1			348/2802									lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4	c.(346-348)GAC>GAG			Pfam_domain:PF02161,Prints_domain:PR00544,hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF7	progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)			ENSP00000325120		8-Jan									COSM2150639	8-Jan	.		ENST00000325455	Transcript			cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	ENSG00000082175	g.chr11:100999454G>C	8910			MODERATE		2.485	medium	getma.org/?cm=msa&ty=f&p=PRGR_HUMAN&rb=1&re=564&var=D116E	NA	getma.org/?cm=var&var=hg19,11,100999454,G,C&fts=all	D116E	--	--	1																																		PGR_uc001pgi.2_Missense_Mutation_p.D116E|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank	1	1		benign(0.007)	p.D116E	NM_000926	NP_000917		deleterious_low_confidence(0)	1	PRGR_HUMAN	PGR	HGNC	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Q6TZ07_HUMAN		1	1091	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	UPI0000046E22	116			Modulating, Pro-Rich.		SNV	PGR,missense_variant,p.Asp116Glu,ENST00000325455,NM_001202474.3,NM_000926.4,NM_001271162.1;PGR,missense_variant,p.Asp116Glu,ENST00000263463,NM_001271161.2;PGR,intron_variant,,ENST00000534013,;PGR,missense_variant,p.Asp116Glu,ENST00000534780,;PGR,missense_variant,p.Asp116Glu,ENST00000528960,;PGR,missense_variant,p.Asp116Glu,ENST00000526300,;	uc001pgh.2	c.348C>G	1802/13748	4	4			c.348C>G						11	SNP	c.(346-348)GAC>GAG	44	44			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4	Broad	progesterone receptor		Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	100999454		0.622	ENSG00000082175	11609	g.chr11:100999454G>C	cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	Pancreas(124;2271 2354 21954 22882)		429	Pancreas(124;2271 2354 21954 22882)		429	24.988669	KEEP	5	5	-1	10	12	5	5	-1	26.142155	10	12	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	C			PGR_uc001pgi.2_Missense_Mutation_p.D116E|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank	44	GBM-06-0192-TP	p.D116E	G	CCAACAGAGTGTCCAAGACAC	NM_000926	NP_000917	100999454	P06401	PRGR_HUMAN	0		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	1	1091	-	C	C		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	Missense_Mutation	116			Modulating, Pro-Rich.			
PGR	5241	broad.mit.edu	GRCh37	11	100996783	100996783	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs144880156		TCGA-06-0939-01	TCGA-06-0939-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325455.5:c.1744C>T	p.Leu582Phe	p.L582F	ENST00000325455	NM_001202474.3	582	Ctt/Ttt	0	A:0		1			A	L/F	uc001pgh.2	protein_coding	YES	CCDS8310.1			1744/2802									lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4	c.(1744-1746)CTT>TTT			Gene3D:3.30.50.10,Pfam_domain:PF00105,Prints_domain:PR00047,PROSITE_patterns:PS00031,PROSITE_profiles:PS51030,hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF7,SMART_domains:SM00399,Superfamily_domains:SSF57716	progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)		A:0.0001	ENSP00000325120		8-Feb									rs144880156,COSM3397346	8-Feb	.		ENST00000325455	Transcript			cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	ENSG00000082175	g.chr11:100996783G>A	8910			MODERATE		1.115	low	getma.org/?cm=msa&ty=f&p=PRGR_HUMAN&rb=565&re=634&var=L582F	getma.org/pdb.php?prot=PRGR_HUMAN&from=565&to=634&var=L582F	getma.org/?cm=var&var=hg19,11,100996783,G,A&fts=all	L582F	--	--	1																																		PGR_uc001pgi.2_Missense_Mutation_p.L582F|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA	0,1	1		probably_damaging(0.997)	p.L582F	NM_000926	NP_000917		deleterious(0)	0,1	PRGR_HUMAN	PGR	HGNC	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Q6TZ07_HUMAN		2	2487	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	UPI0000046E22	582			NR C4-type.|Nuclear receptor.		SNV	PGR,missense_variant,p.Leu582Phe,ENST00000325455,NM_001202474.3,NM_000926.4,NM_001271162.1;PGR,missense_variant,p.Leu582Phe,ENST00000263463,NM_001271161.2;PGR,5_prime_UTR_variant,,ENST00000534013,;PGR,missense_variant,p.Leu582Phe,ENST00000534780,;PGR,missense_variant,p.Leu582Phe,ENST00000528960,;PGR,missense_variant,p.Leu582Phe,ENST00000526300,;	uc001pgh.2	c.1744C>T	3198/13748	2	2			c.1744C>T						11	SNP	c.(1744-1746)CTT>TTT	40	40			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4	Broad	progesterone receptor		Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	100996783		0.443	ENSG00000082175	11609	g.chr11:100996783G>A	cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	Pancreas(124;2271 2354 21954 22882)		429	Pancreas(124;2271 2354 21954 22882)		429	-27.597878	KEEP	4	0	-1	77	82	4	0	-1	7.077905	77	82	0.022059	1	0	0	0	0	1	0	0	0	--	--		0	A			PGR_uc001pgi.2_Missense_Mutation_p.L582F|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA	78	GBM-06-0939-TP	p.L582F	G	CCACAGGTAAGGACACCATAA	NM_000926	NP_000917	100996783	P06401	PRGR_HUMAN	0		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	2	2487	-	A	A		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	Missense_Mutation	582			NR C4-type.|Nuclear receptor.			
PGR	0	broad.mit.edu	GRCh37	11	100920711	100920711	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-12-3653-01	TCGA-12-3653-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325455.5:c.2437G>T	p.Val813Phe	p.V813F	ENST00000325455	NM_001202474.3	813	Gtt/Ttt	0			1			A	V/F	uc001pgh.2	protein_coding	YES	CCDS8310.1			2437/2802									lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4	c.(2437-2439)GTT>TTT			Gene3D:1.10.565.10,Pfam_domain:PF00104,Prints_domain:PR00398,hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF7,SMART_domains:SM00430,Superfamily_domains:SSF48508	progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)			ENSP00000325120		8-Jun									COSM3397344	8-Jun	.		ENST00000325455	Transcript			cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	ENSG00000082175	g.chr11:100920711C>A	8910			MODERATE		1.975	medium	getma.org/?cm=msa&ty=f&p=PRGR_HUMAN&rb=698&re=909&var=V813F	getma.org/pdb.php?prot=PRGR_HUMAN&from=698&to=909&var=V813F	getma.org/?cm=var&var=hg19,11,100920711,C,A&fts=all	V813F	--	--	1																																		PGR_uc001pgg.2_Missense_Mutation_p.V194F|PGR_uc001pgi.2_Missense_Mutation_p.V711F|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA	1	1		probably_damaging(0.99)	p.V813F	NM_000926	NP_000917		deleterious(0)	1	PRGR_HUMAN	PGR	HGNC	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Q6TZ07_HUMAN		6	3180	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	UPI0000046E22	813			Steroid-binding.		SNV	PGR,missense_variant,p.Val813Phe,ENST00000325455,NM_001202474.3,NM_000926.4,NM_001271162.1;PGR,missense_variant,p.Val711Phe,ENST00000263463,NM_001271161.2;PGR,missense_variant,p.Val219Phe,ENST00000534013,;PGR,missense_variant,p.Lys795Asn,ENST00000534780,;PGR,missense_variant,p.Lys756Asn,ENST00000528960,;PGR,non_coding_transcript_exon_variant,,ENST00000533207,;PGR,non_coding_transcript_exon_variant,,ENST00000530764,;PGR,intron_variant,,ENST00000526300,;	uc001pgh.2	c.2437G>T	3891/13748	2	2			c.2437G>T						11	SNP	c.(2437-2439)GTT>TTT	18	18			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4	Broad	progesterone receptor		Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	100920711		0.368	ENSG00000082175	11609	g.chr11:100920711C>A	cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	Pancreas(124;2271 2354 21954 22882)		429	Pancreas(124;2271 2354 21954 22882)		429	78.563646	KEEP	11	20	0.64516129	37	27	11	20	0.64516129	81.564987	37	27	0.307692	1	0	0	0	0	1	0	0	0	--	--		0	A			PGR_uc001pgg.2_Missense_Mutation_p.V194F|PGR_uc001pgi.2_Missense_Mutation_p.V711F|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA	128	GBM-12-3653-TP	p.V813F	C	TCTTGGCTAACTTGAAGCTTG	NM_000926	NP_000917	100920711	P06401	PRGR_HUMAN	0		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	6	3180	-	A	A		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	Missense_Mutation	813			Steroid-binding.			
PGR	0	broad.mit.edu	GRCh37	11	100999671	100999671	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs141862537		TCGA-87-5896-01	TCGA-87-5896-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325455.5:c.131C>A	p.Thr44Asn	p.T44N	ENST00000325455	NM_001202474.3	44	aCc/aAc	0			1			T	T/N	uc001pgh.2	protein_coding	YES	CCDS8310.1			131/2802									lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4	c.(130-132)ACC>AAC			Pfam_domain:PF02161,hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF7	progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)			ENSP00000325120		8-Jan									COSM3397347	8-Jan	.		ENST00000325455	Transcript			cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	ENSG00000082175	g.chr11:100999671G>T	8910			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=PRGR_HUMAN&rb=1&re=564&var=T44N	NA	getma.org/?cm=var&var=hg19,11,100999671,G,T&fts=all	T44N	--	--	1																																		PGR_uc001pgi.2_Missense_Mutation_p.T44N|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank	1	1		benign(0.079)	p.T44N	NM_000926	NP_000917		tolerated_low_confidence(0.18)	1	PRGR_HUMAN	PGR	HGNC	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Q6TZ07_HUMAN		1	874	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	UPI0000046E22	44			Modulating, Pro-Rich.		SNV	PGR,missense_variant,p.Thr44Asn,ENST00000325455,NM_001202474.3,NM_000926.4,NM_001271162.1;PGR,missense_variant,p.Thr44Asn,ENST00000263463,NM_001271161.2;PGR,intron_variant,,ENST00000534013,;PGR,missense_variant,p.Thr44Asn,ENST00000534780,;PGR,missense_variant,p.Thr44Asn,ENST00000528960,;PGR,missense_variant,p.Thr44Asn,ENST00000526300,;	uc001pgh.2	c.131C>A	1585/13748	2	2			c.131C>A						11	SNP	c.(130-132)ACC>AAC	17	17			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4	Broad	progesterone receptor		Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	100999671		0.692	ENSG00000082175	11609	g.chr11:100999671G>T	cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	Pancreas(124;2271 2354 21954 22882)		429	Pancreas(124;2271 2354 21954 22882)		429	27.472718	KEEP	3	6	0.333333333	8	4	3	6	0.333333333	27.484234	8	4	0.473684	1	0	0	0	0	1	0	0	0	--	--		0	T			PGR_uc001pgi.2_Missense_Mutation_p.T44N|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank	291	GBM-87-5896-TP	p.T44N	G	TTCAGGCAAGGTGTCCGAGGT	NM_000926	NP_000917	100999671	P06401	PRGR_HUMAN	0		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	1	874	-	T	T		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	Missense_Mutation	44			Modulating, Pro-Rich.			
PHACTR1	0	broad.mit.edu	GRCh37	6	13278556	13278556	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01	TCGA-32-2491-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332995.7:c.1504C>G	p.Arg502Gly	p.R502G	ENST00000332995		502	Cga/Gga	0			1			G	R/G	uc010jpc.2	protein_coding					1504/1740										0	c.(1504-1506)CGA>GGA			Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51073,hmmpanther:PTHR12751,hmmpanther:PTHR12751:SF6,Pfam_domain:PF02755,SMART_domains:SM00707	phosphatase and actin regulator 1				ENSP00000329880		13-Oct									COSM3410590,COSM3410591	13-Oct	.		ENST00000332995	Transcript				cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	ENSG00000112137	g.chr6:13278556C>G	20990			MODERATE		2.74	medium	getma.org/?cm=msa&ty=f&p=PHAR1_HUMAN&rb=478&re=543&var=R502G	NA	getma.org/?cm=var&var=hg19,6,13278556,C,G&fts=all	R502G	--	--	1																																		PHACTR1_uc003nah.1_Missense_Mutation_p.R502G|TBC1D7_uc003naj.2_Intron|TBC1D7_uc011dis.1_Intron	1,1			possibly_damaging(0.885)	p.R502G	NM_030948	NP_112210			1,1		PHACTR1	HGNC	Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		J3KQF9_HUMAN,F8W882_HUMAN		12	1836	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	UPI00015E05CA	502			RPEL 4.		SNV	PHACTR1,missense_variant,p.Arg337Gly,ENST00000415087,NM_001242648.1,NM_030948.2;PHACTR1,missense_variant,p.Arg502Gly,ENST00000332995,;PHACTR1,missense_variant,p.Arg357Gly,ENST00000457702,;PHACTR1,missense_variant,p.Arg66Gly,ENST00000379335,;PHACTR1,missense_variant,p.Arg66Gly,ENST00000379329,;TBC1D7,intron_variant,,ENST00000606214,;PHACTR1,downstream_gene_variant,,ENST00000379350,;RP1-257A7.4,intron_variant,,ENST00000399446,;RP1-257A7.4,downstream_gene_variant,,ENST00000606150,;RP1-257A7.4,upstream_gene_variant,,ENST00000606627,;PHACTR1,non_coding_transcript_exon_variant,,ENST00000489548,;PHACTR1,non_coding_transcript_exon_variant,,ENST00000481706,;TBC1D7,intron_variant,,ENST00000421203,;	uc010jpc.2	c.1504C>G	1504/1740	4	4			c.1504C>G						6	SNP	c.(1504-1506)CGA>GGA	29	29				0	Broad	phosphatase and actin regulator 1			13278556		0.507	ENSG00000112137	11613	g.chr6:13278556C>G		cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity							5.941257	KEEP	0	2	-1	5	7	0	2	-1	7.430488	5	7	0.153846	1	0	0	0	0	1	0	0	0	--	--		0	G			PHACTR1_uc003nah.1_Missense_Mutation_p.R502G|TBC1D7_uc003naj.2_Intron|TBC1D7_uc011dis.1_Intron	235	GBM-32-2491-TP	p.R502G	C	GAGGCTAACCCGAAAGGTAGG	NM_030948	NP_112210	13278556	Q9C0D0	PHAR1_HUMAN	0	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		12	1836	+	G	G	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Missense_Mutation	502			RPEL 4.			
PHACTR2	0	broad.mit.edu	GRCh37	6	144086812	144086812	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-14-0781-01	TCGA-14-0781-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000427704.2:c.1076T>C	p.Val359Ala	p.V359A	ENST00000427704	NM_014721.2	359	gTt/gCt	0			1			C	V/A	uc003qjq.3	protein_coding		CCDS47492.1			1076/1905									ovary(2)	2	c.(1075-1077)GTT>GCT			hmmpanther:PTHR12751,hmmpanther:PTHR12751:SF5	phosphatase and actin regulator 2 isoform 3				ENSP00000391763		13-Jun									COSM3410637,COSM3410636	13-Jun	.		ENST00000427704	Transcript					actin binding|protein phosphatase inhibitor activity	ENSG00000112419	g.chr6:144086812T>C	20956			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=PHAR2_HUMAN&rb=104&re=466&var=V359A	NA	getma.org/?cm=var&var=hg19,6,144086812,T,C&fts=all	V359A	--	--	1																																		PHACTR2_uc010khh.2_Missense_Mutation_p.V279A|PHACTR2_uc010khi.2_Missense_Mutation_p.V370A|PHACTR2_uc003qjr.3_Missense_Mutation_p.V290A	1,1			benign(0.005)	p.V359A	NM_014721	NP_055536		tolerated_low_confidence(0.73)	1,1	PHAR2_HUMAN	PHACTR2	HGNC	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)			6	1206	+			UPI0000419279	359					SNV	PHACTR2,missense_variant,p.Val359Ala,ENST00000427704,NM_014721.2,NM_001100166.1;PHACTR2,missense_variant,p.Val290Ala,ENST00000367582,NM_001100165.1;PHACTR2,missense_variant,p.Val370Ala,ENST00000440869,NM_001100164.1;PHACTR2,missense_variant,p.Val347Ala,ENST00000367584,;PHACTR2,missense_variant,p.Val279Ala,ENST00000305766,;PHACTR2,downstream_gene_variant,,ENST00000451827,;PHACTR2,downstream_gene_variant,,ENST00000542769,;PHACTR2,downstream_gene_variant,,ENST00000420771,;	uc003qjq.3	c.1076T>C	1206/9531	3	3			c.1076T>C						6	SNP	c.(1075-1077)GTT>GCT	11	11			ovary(2)	2	Broad	phosphatase and actin regulator 2 isoform 3			144086812		0.582	ENSG00000112419	11614	g.chr6:144086812T>C			actin binding|protein phosphatase inhibitor activity	Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)			Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)			26.079748	KEEP	5	9	-1	48	47	5	9	-1	39.541268	48	47	0.134615	1	0	0	0	0	1	0	0	0	--	--		0	C			PHACTR2_uc010khh.2_Missense_Mutation_p.V279A|PHACTR2_uc010khi.2_Missense_Mutation_p.V370A|PHACTR2_uc003qjr.3_Missense_Mutation_p.V290A	133	GBM-14-0781-TP	p.V359A	T	CTCGTCAGCGTTGGAGCTGAC	NM_014721	NP_055536	144086812	O75167	PHAR2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	6	1206	+	C	C			Missense_Mutation	359						
PHACTR4	65979	broad.mit.edu	GRCh37	1	28800112	28800112	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-02-2483-01	TCGA-02-2483-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373836.3:c.900G>A	p.Pro300=	p.P300=	ENST00000373836	NM_023923.3	300	ccG/ccA	0	A:0		1			A	P	uc001bpw.2	protein_coding		CCDS41293.1			870/2109										0	c.(868-870)CCG>CCA			Low_complexity_(Seg):seg,hmmpanther:PTHR12751,hmmpanther:PTHR12751:SF4	phosphatase and actin regulator 4 isoform 1			A:0.0004	ENSP00000362945		14-Jul	0.000215	0.000306	0.000173			0.000315			rs201982408,COSM2149147	14-Jul	.		ENST00000373839	Transcript					actin binding|protein phosphatase inhibitor activity	ENSG00000204138	g.chr1:28800112G>A	25793			LOW								--	--	1																																		PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Silent_p.P274P|PHACTR4_uc001bpy.2_Silent_p.P300P	0,1				p.P290P	NM_001048183	NP_001041648			0,1	PHAR4_HUMAN	PHACTR4	HGNC	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)			7	1152	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	UPI000007419C	290			Pro-rich.		SNV	PHACTR4,synonymous_variant,p.=,ENST00000373839,NM_001048183.1;PHACTR4,synonymous_variant,p.=,ENST00000373836,NM_023923.3;PHACTR4,non_coding_transcript_exon_variant,,ENST00000493669,;	uc001bpw.2	c.870G>A	1131/6190	1	1			c.870G>A						1	SNP	c.(868-870)CCG>CCA	50	50				0	Broad	phosphatase and actin regulator 4 isoform 1			28800112		0.463	ENSG00000204138	11616	g.chr1:28800112G>A			actin binding|protein phosphatase inhibitor activity							241.248427	KEEP	33	51	-1	51	70	33	51	-1	242.207032	51	70	0.424084	1	0	0	0	0	0	0	1	0	--	--		0	A			PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Silent_p.P274P|PHACTR4_uc001bpy.2_Silent_p.P300P	6	GBM-02-2483-TP	p.P290P	G	TATCAAAACCGTCCCCACCCT	NM_001048183	NP_001041648	28800112	Q8IZ21	PHAR4_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	7	1152	+	A	A		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	Silent	290			Pro-rich.			
PHACTR4	65979		GRCh37	1	28818258	28818258	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000373836.3:c.2005C>T	p.Arg669Ter	p.R669*	ENST00000373836	NM_023923.3	669	Cga/Tga	0																																																																																																																																																																																																																																												
PHC1	1911	broad.mit.edu	GRCh37	12	9087006	9087006	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01	TCGA-06-0174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000543824.1:c.2185G>A	p.Val729Met	p.V729M	ENST00000543824		729	Gtg/Atg	0			1			A	V/M	uc001qvd.2	protein_coding	YES	CCDS8597.1			2185/3015									ovary(1)|breast(1)	2	c.(2185-2187)GTG>ATG			hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF21	polyhomeotic 1-like				ENSP00000440674		16-Nov									COSM2044782	16-Nov	.		ENST00000543824	Transcript	1		multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	ENSG00000111752	g.chr12:9087006G>A	3182			MODERATE		2.36	medium	getma.org/?cm=msa&ty=f&p=PHC1_HUMAN&rb=715&re=791&var=V729M	NA	getma.org/?cm=var&var=hg19,12,9087006,G,A&fts=all	V729M	--	--	1																																		PHC1_uc001qve.2_Missense_Mutation_p.V729M	1	1		unknown(0)	p.V729M	NM_004426	NP_004417		deleterious(0)	1	PHC1_HUMAN	PHC1	HGNC	P78364	PHC1_HUMAN			F5H6F5_HUMAN		10	2341	+			UPI000013CD12	729					SNV	PHC1,missense_variant,p.Val684Met,ENST00000433083,;PHC1,missense_variant,p.Val729Met,ENST00000543824,;PHC1,missense_variant,p.Val335Met,ENST00000536844,;PHC1,missense_variant,p.Val729Met,ENST00000544916,NM_004426.2;PHC1,intron_variant,,ENST00000542346,;PHC1,downstream_gene_variant,,ENST00000539063,;PHC1,downstream_gene_variant,,ENST00000537610,;PHC1,downstream_gene_variant,,ENST00000433847,;PHC1,downstream_gene_variant,,ENST00000539928,;PHC1,missense_variant,p.Val108Met,ENST00000535510,;PHC1,3_prime_UTR_variant,,ENST00000540574,;PHC1,non_coding_transcript_exon_variant,,ENST00000540809,;	uc001qvd.2	c.2185G>A	2517/4292	1	1			c.2185G>A						12	SNP	c.(2185-2187)GTG>ATG	56	56			ovary(1)|breast(1)	2	Broad	polyhomeotic 1-like			9087006		0.542	ENSG00000111752	11620	g.chr12:9087006G>A	multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding							-25.653042	KEEP	5	1	-1	95	89	5	1	-1	8.555505	95	89	0.034483	1	0	0	0	0	1	0	0	0	--	--		0	A			PHC1_uc001qve.2_Missense_Mutation_p.V729M	37	GBM-06-0174-TP	p.V729M	G	ACAGGCCATCGTGAAGCCCCA	NM_004426	NP_004417	9087006	P78364	PHC1_HUMAN	0			10	2341	+	A	A			Missense_Mutation	729						
PHC3	80012	broad.mit.edu	GRCh37	3	169840418	169840418	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0216-01	TCGA-06-0216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000495893.2:c.1903G>A	p.Gly635Arg	p.G635R	ENST00000495893	NM_024947.3	635	Ggg/Agg	0			1			T	G/R	uc010hws.1	protein_coding					1867/2952									ovary(1)|central_nervous_system(1)	2	c.(1867-1869)GGG>AGG			hmmpanther:PTHR12247:SF20,hmmpanther:PTHR12247	polyhomeotic like 3				ENSP00000420271		15-Sep	8.27E-06					1.50E-05			rs774281390,COSM3408420,COSM3408419	15-Sep	.		ENST00000494943	Transcript			multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	ENSG00000173889	g.chr3:169840418C>T	15682			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=PHC3_HUMAN&rb=1&re=701&var=G623R	NA	getma.org/?cm=var&var=hg19,3,169840418,C,T&fts=all	G623R	--	--	1																																		PHC3_uc003fgl.2_Missense_Mutation_p.G635R|PHC3_uc011bpq.1_Missense_Mutation_p.G582R	0,1,1			probably_damaging(0.983)	p.G623R	NM_024947	NP_079223		tolerated(0.28)	0,1,1	PHC3_HUMAN	PHC3	HGNC	Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)				9	1931	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		UPI000006D99D	623			Pro-rich.		SNV	PHC3,missense_variant,p.Gly635Arg,ENST00000495893,NM_024947.3;PHC3,missense_variant,p.Gly623Arg,ENST00000494943,;PHC3,missense_variant,p.Gly582Arg,ENST00000467570,;PHC3,missense_variant,p.Gly97Arg,ENST00000486042,;	uc010hws.1	c.1867G>A	1936/5030	2	2			c.1867G>A						3	SNP	c.(1867-1869)GGG>AGG	21	21			ovary(1)|central_nervous_system(1)	2	Broad	polyhomeotic like 3			169840418		0.393	ENSG00000173889	11622	g.chr3:169840418C>T	multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding							-2.449938	KEEP	2	3	-1	40	20	2	3	-1	8.959613	40	20	0.067797	1	0	0	0	0	1	0	0	0	--	--		0	T			PHC3_uc003fgl.2_Missense_Mutation_p.G635R|PHC3_uc011bpq.1_Missense_Mutation_p.G582R	51	GBM-06-0216-TP	p.G623R	C	TCTCCTCTCCCCACTGTTATA	NM_024947	NP_079223	169840418	Q8NDX5	PHC3_HUMAN	0	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		9	1931	-	T	T	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Missense_Mutation	623			Pro-rich.			
PHC3	80012	broad.mit.edu	GRCh37	3	169896635	169896637	+	inframe_deletion	In_Frame_Del	DEL	TGG	TGG	-			TCGA-06-0644-01	TCGA-06-0644-01	TGG	TGG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000495893.2:c.104_106del	p.Thr35del	p.T35del	ENST00000495893	NM_024947.3	35	aCCAtc/atc	0	-:0.0015		1			-	TI/I	uc010hws.1	protein_coding					68-70/2952									ovary(1)|central_nervous_system(1)	2	c.(67-72)ACCATC>ATC			Low_complexity_(Seg):seg,hmmpanther:PTHR12247:SF20,hmmpanther:PTHR12247	polyhomeotic like 3			-:0.0026	ENSP00000420271		15-Feb	8.26E-05		8.64E-05			8.99E-05	0.00111	0.000121	rs778969283	15-Feb	.		ENST00000494943	Transcript			multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	ENSG00000173889	g.chr3:169896635_169896637delTGG	15682			MODERATE								--	--	1																																		PHC3_uc003fgl.2_In_Frame_Del_p.T35del|PHC3_uc011bpq.1_In_Frame_Del_p.T35del|PHC3_uc011bpr.1_In_Frame_Del_p.T35del|PHC3_uc003fgm.2_In_Frame_Del_p.T35del|PHC3_uc003fgo.1_In_Frame_Del_p.T23del|PHC3_uc003fgp.3_In_Frame_Del_p.T35del|PHC3_uc003fgq.3_In_Frame_Del_p.T35del|PHC3_uc003fgr.1_RNA					p.T23del	NM_024947	NP_079223				PHC3_HUMAN	PHC3	HGNC	Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)				2	132_134	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		UPI000006D99D	23			Poly-Thr.		deletion	PHC3,inframe_deletion,p.Thr35del,ENST00000495893,NM_024947.3;PHC3,inframe_deletion,p.Thr23del,ENST00000494943,;PHC3,inframe_deletion,p.Thr35del,ENST00000467570,;PHC3,inframe_deletion,p.Thr23del,ENST00000474275,;PHC3,inframe_deletion,p.Thr35del,ENST00000497658,;PHC3,inframe_deletion,p.Thr35del,ENST00000481639,;PHC3,inframe_deletion,p.Thr35del,ENST00000475729,;PHC3,inframe_deletion,p.Thr35del,ENST00000484931,;PHC3,inframe_deletion,p.Thr35del,ENST00000466189,;PHC3,inframe_deletion,p.Thr35del,ENST00000465896,;PHC3,inframe_deletion,p.Thr35del,ENST00000479467,;PHC3,inframe_deletion,p.Thr23del,ENST00000472330,;PHC3,non_coding_transcript_exon_variant,,ENST00000491258,;	uc010hws.1	c.68_70delCCA	137-139/5030	5	5			c.68_70delCCA						3	DEL	c.(67-72)ACCATC>ATC	16	16			ovary(1)|central_nervous_system(1)	2	Broad	polyhomeotic like 3			169896637		0.424	ENSG00000173889	11622	g.chr3:169896635_169896637delTGG	multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding																				0.01	1	1	0	1	0	0	0	0	0	--	--		0	-			PHC3_uc003fgl.2_In_Frame_Del_p.T35del|PHC3_uc011bpq.1_In_Frame_Del_p.T35del|PHC3_uc011bpr.1_In_Frame_Del_p.T35del|PHC3_uc003fgm.2_In_Frame_Del_p.T35del|PHC3_uc003fgo.1_In_Frame_Del_p.T23del|PHC3_uc003fgp.3_In_Frame_Del_p.T35del|PHC3_uc003fgq.3_In_Frame_Del_p.T35del|PHC3_uc003fgr.1_RNA	58	GBM-06-0644-TP	p.T23del	TGG	GAAgtggtgatggtggtggtggt	NM_024947	NP_079223	169896635	Q8NDX5	PHC3_HUMAN	0	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		2	132_134	-	-	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		In_Frame_Del	23			Poly-Thr.			
PHC3	80012		GRCh37	3	169896635	169896637	+	inframe_deletion	In_Frame_Del	DEL	TGG	TGG	-			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000495893.2:c.104_106del	p.Thr35del	p.T35del	ENST00000495893	NM_024947.3	35	aCCAtc/atc	0																																																																																																																																																																																																																																												
PHEX	5251	broad.mit.edu	GRCh37	X	22112133	22112133	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-1804-01	TCGA-06-1804-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379374.4:c.765T>C	p.Asp255=	p.D255=	ENST00000379374	NM_000444.4	255	gaT/gaC	0			1			C	D	uc004dah.2	protein_coding	YES	CCDS14204.1			765/2250									ovary(2)|lung(1)	3	c.(763-765)GAT>GAC			Superfamily_domains:SSF55486,Pfam_domain:PF05649,hmmpanther:PTHR11733:SF117,hmmpanther:PTHR11733	phosphate-regulating neutral endopeptidase				ENSP00000368682		22-Jul									COSM3406233	22-Jul	.		ENST00000379374	Transcript	1		biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	ENSG00000102174	g.chrX:22112133T>C	8918			LOW								--	--	1																																		PHEX_uc011mjr.1_Silent_p.D255D|PHEX_uc011mjs.1_Silent_p.D158D	1	1			p.D255D	NM_000444	NP_000435			1	PHEX_HUMAN	PHEX	HGNC	P78562	PHEX_HUMAN			D1LZJ7_HUMAN,B4DWG8_HUMAN		7	968	+			UPI0000033C42	255			Extracellular (Potential).		SNV	PHEX,synonymous_variant,p.=,ENST00000379374,NM_000444.4;PHEX,synonymous_variant,p.=,ENST00000535894,;PHEX,synonymous_variant,p.=,ENST00000537599,;PHEX,upstream_gene_variant,,ENST00000418858,;PHEX,non_coding_transcript_exon_variant,,ENST00000475778,;	uc004dah.2	c.765T>C	1330/6172	4	4			c.765T>C						23	SNP	c.(763-765)GAT>GAC	47	47			ovary(2)|lung(1)	3	Broad	phosphate-regulating neutral endopeptidase			22112133		0.408	ENSG00000102174	11623	g.chrX:22112133T>C	biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding							-1.1952	KEEP	3	7	-1	76	67	3	7	-1	23.692858	76	67	0.069231	1	0	0	0	0	0	0	1	0	--	--		0	C			PHEX_uc011mjr.1_Silent_p.D255D|PHEX_uc011mjs.1_Silent_p.D158D	79	GBM-06-1804-TP	p.D255D	T	TCATGGTGGATACTGCCGTGC	NM_000444	NP_000435	22112133	P78562	PHEX_HUMAN	0			7	968	+	C	C			Silent	255			Extracellular (Potential).			
PHEX	5251		GRCh37	X	22132590	22132590	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000379374.4:c.1188C>G	p.Thr396=	p.T396=	ENST00000379374	NM_000444.4	396	acC/acG	0																																																																																																																																																																																																																																												
PHF1	5252	broad.mit.edu	GRCh37	6	33382595	33382595	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-5417-01	TCGA-06-5417-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374516.3:c.1038A>G	p.Gly346=	p.G346=	ENST00000374516	NM_024165.2	346	ggA/ggG	0			1			G	G	uc003oeh.2	protein_coding	YES	CCDS4777.1			1038/1704										0	c.(1036-1038)GGA>GGG			hmmpanther:PTHR12628,hmmpanther:PTHR12628:SF11	PHD finger protein 1 isoform b				ENSP00000363640		15-Nov									COSM3411010	15-Nov	.		ENST00000374516	Transcript			chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000112511	g.chr6:33382595A>G	8919			LOW								--	--	1																																OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_Silent_p.G346G|PHF1_uc010jux.2_Silent_p.G146G	1	1			p.G346G	NM_024165	NP_077084			1	PHF1_HUMAN	PHF1	HGNC	O43189	PHF1_HUMAN			A2AB23_HUMAN,A2AB22_HUMAN		11	1274	+		Ovarian(999;0.0443)	UPI0000457421	346					SNV	PHF1,synonymous_variant,p.=,ENST00000374516,NM_024165.2;PHF1,synonymous_variant,p.=,ENST00000374512,NM_002636.4;KIFC1,downstream_gene_variant,,ENST00000428849,NM_002263.3;CUTA,downstream_gene_variant,,ENST00000374500,NM_001014433.2;PHF1,upstream_gene_variant,,ENST00000427826,;PHF1,downstream_gene_variant,,ENST00000428274,;CUTA,downstream_gene_variant,,ENST00000440279,;CUTA,downstream_gene_variant,,ENST00000488034,NM_001014837.1,NM_015921.2,NM_001014838.1,NM_001014840.1;CUTA,downstream_gene_variant,,ENST00000374496,;CUTA,downstream_gene_variant,,ENST00000494751,;CUTA,downstream_gene_variant,,ENST00000488478,;CUTA,downstream_gene_variant,,ENST00000607266,;PHF1,downstream_gene_variant,,ENST00000427004,;PHF1,downstream_gene_variant,,ENST00000459809,;CUTA,downstream_gene_variant,,ENST00000492510,;PHF1,synonymous_variant,p.=,ENST00000487667,;PHF1,synonymous_variant,p.=,ENST00000495509,;PHF1,non_coding_transcript_exon_variant,,ENST00000486845,;CUTA,downstream_gene_variant,,ENST00000487637,;CUTA,downstream_gene_variant,,ENST00000462802,;CUTA,downstream_gene_variant,,ENST00000465956,;PHF1,upstream_gene_variant,,ENST00000479029,;PHF1,downstream_gene_variant,,ENST00000488767,;CUTA,downstream_gene_variant,,ENST00000482684,;CUTA,downstream_gene_variant,,ENST00000374484,;CUTA,downstream_gene_variant,,ENST00000479249,;	uc003oeh.2	c.1038A>G	1309/2330	3	3			c.1038A>G						6	SNP	c.(1036-1038)GGA>GGG	59	59				0	Broad	PHD finger protein 1 isoform b			33382595		0.552	ENSG00000112511	11624	g.chr6:33382595A>G	chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							-24.188463	KEEP	2	1	-1	63	63	2	1	-1	6.709522	63	63	0.02439	1	0	0	0	0	0	0	1	0	--	--		0	G	OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_Silent_p.G346G|PHF1_uc010jux.2_Silent_p.G146G	99	GBM-06-5417-TP	p.G346G	A	CTGGAGATGGAGCACTCACCA	NM_024165	NP_077084	33382595	O43189	PHF1_HUMAN	0			11	1274	+	G	G		Ovarian(999;0.0443)	Silent	346						
PHF1	0	broad.mit.edu	GRCh37	6	33380059	33380059	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-08-0386-01	TCGA-08-0386-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374516.3:c.19C>T	p.Leu7=	p.L7=	ENST00000374516	NM_024165.2	7	Ctg/Ttg	0			1			T	L	uc003oeh.2	protein_coding	YES	CCDS4777.1			19/1704										0	c.(19-21)CTG>TTG			hmmpanther:PTHR12628,hmmpanther:PTHR12628:SF11	PHD finger protein 1 isoform b				ENSP00000363640		15-Feb									COSM3411009	15-Feb	.		ENST00000374516	Transcript			chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000112511	g.chr6:33380059C>T	8919			LOW								--	--	1																																		PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_Silent_p.L7L|PHF1_uc010jux.2_5'UTR	1	1			p.L7L	NM_024165	NP_077084			1	PHF1_HUMAN	PHF1	HGNC	O43189	PHF1_HUMAN			A2AB23_HUMAN,A2AB22_HUMAN		2	255	+		Ovarian(999;0.0443)	UPI0000457421	7					SNV	PHF1,synonymous_variant,p.=,ENST00000374516,NM_024165.2;PHF1,synonymous_variant,p.=,ENST00000374512,NM_002636.4;PHF1,synonymous_variant,p.=,ENST00000428274,;PHF1,synonymous_variant,p.=,ENST00000427004,;KIFC1,downstream_gene_variant,,ENST00000428849,NM_002263.3;CUTA,downstream_gene_variant,,ENST00000374500,NM_001014433.2;PHF1,upstream_gene_variant,,ENST00000427826,;CUTA,downstream_gene_variant,,ENST00000440279,;CUTA,downstream_gene_variant,,ENST00000488034,NM_001014837.1,NM_015921.2,NM_001014838.1,NM_001014840.1;CUTA,downstream_gene_variant,,ENST00000374496,;CUTA,downstream_gene_variant,,ENST00000494751,;CUTA,downstream_gene_variant,,ENST00000488478,;CUTA,downstream_gene_variant,,ENST00000607266,;PHF1,non_coding_transcript_exon_variant,,ENST00000459809,;PHF1,synonymous_variant,p.=,ENST00000487667,;PHF1,synonymous_variant,p.=,ENST00000495509,;CUTA,downstream_gene_variant,,ENST00000487637,;PHF1,upstream_gene_variant,,ENST00000486845,;CUTA,downstream_gene_variant,,ENST00000462802,;CUTA,downstream_gene_variant,,ENST00000465956,;PHF1,upstream_gene_variant,,ENST00000479029,;PHF1,upstream_gene_variant,,ENST00000488767,;CUTA,downstream_gene_variant,,ENST00000482684,;CUTA,downstream_gene_variant,,ENST00000374484,;CUTA,downstream_gene_variant,,ENST00000479249,;	uc003oeh.2	c.19C>T	290/2330	2	2			c.19C>T						6	SNP	c.(19-21)CTG>TTG	24	24				0	Broad	PHD finger protein 1 isoform b			33380059		0.592	ENSG00000112511	11624	g.chr6:33380059C>T	chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							-0.833251	KEEP	3	5	-1	48	43	3	5	-1	14.782699	48	43	0.08046	1	0	0	0	0	0	0	1	0	--	--		0	T			PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_Silent_p.L7L|PHF1_uc010jux.2_5'UTR	116	GBM-08-0386-TP	p.L7L	C	GCCCCCCCGGCTGAGCCGCTC	NM_024165	NP_077084	33380059	O43189	PHF1_HUMAN	0			2	255	+	T	T		Ovarian(999;0.0443)	Silent	7						
PHF1	0	broad.mit.edu	GRCh37	6	33382871	33382871	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374516.3:c.1191delC	p.Glu398SerfsTer96	p.E398Sfs*96	ENST00000374516	NM_024165.2	397	Ccc/cc	0			1			-	P/X	uc003oeh.2	protein_coding	YES	CCDS4777.1			1189/1704										0	c.(1189-1191)CCCfs			hmmpanther:PTHR12628,hmmpanther:PTHR12628:SF11	PHD finger protein 1 isoform b				ENSP00000363640		15-Dec										15-Dec	.		ENST00000374516	Transcript			chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000112511	g.chr6:33382871delC	8919	2		HIGH								--	--	1																																OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_Frame_Shift_Del_p.A393fs|PHF1_uc010jux.2_Frame_Shift_Del_p.P197fs		1			p.P397fs	NM_024165	NP_077084				PHF1_HUMAN	PHF1	HGNC	O43189	PHF1_HUMAN			A2AB23_HUMAN,A2AB22_HUMAN		12	1425	+		Ovarian(999;0.0443)	UPI0000457421	397					deletion	PHF1,frameshift_variant,p.Glu398SerfsTer96,ENST00000374516,NM_024165.2;PHF1,frameshift_variant,p.Arg394GlufsTer58,ENST00000374512,NM_002636.4;PHF1,frameshift_variant,p.Pro11ArgfsTer27,ENST00000427826,;SYNGAP1,upstream_gene_variant,,ENST00000293748,;CUTA,downstream_gene_variant,,ENST00000374500,NM_001014433.2;PHF1,downstream_gene_variant,,ENST00000428274,;CUTA,downstream_gene_variant,,ENST00000440279,;CUTA,downstream_gene_variant,,ENST00000488034,NM_001014837.1,NM_015921.2,NM_001014838.1,NM_001014840.1;CUTA,downstream_gene_variant,,ENST00000374496,;CUTA,downstream_gene_variant,,ENST00000494751,;CUTA,downstream_gene_variant,,ENST00000488478,;CUTA,downstream_gene_variant,,ENST00000607266,;PHF1,downstream_gene_variant,,ENST00000427004,;PHF1,downstream_gene_variant,,ENST00000459809,;CUTA,downstream_gene_variant,,ENST00000492510,;PHF1,frameshift_variant,p.Arg394GlufsTer?,ENST00000495509,;PHF1,non_coding_transcript_exon_variant,,ENST00000486845,;PHF1,intron_variant,,ENST00000487667,;SYNGAP1,upstream_gene_variant,,ENST00000479510,;CUTA,downstream_gene_variant,,ENST00000487637,;CUTA,downstream_gene_variant,,ENST00000462802,;CUTA,downstream_gene_variant,,ENST00000465956,;PHF1,upstream_gene_variant,,ENST00000479029,;PHF1,downstream_gene_variant,,ENST00000488767,;CUTA,downstream_gene_variant,,ENST00000482684,;CUTA,downstream_gene_variant,,ENST00000374484,;CUTA,downstream_gene_variant,,ENST00000479249,;	uc003oeh.2	c.1189delC	1460/2330	5	5			c.1189delC						6	DEL	c.(1189-1191)CCCfs	55	55				0	Broad	PHD finger protein 1 isoform b			33382871		0.677	ENSG00000112511	11624	g.chr6:33382871delC	chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding																				0.24	1	1	0	1	0	0	0	0	0	--	--		0	-	OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_Frame_Shift_Del_p.A393fs|PHF1_uc010jux.2_Frame_Shift_Del_p.P197fs	229	GBM-32-1977-TP	p.P397fs	C	GCGCAATCAGCCCGAGCCCCA	NM_024165	NP_077084	33382871	O43189	PHF1_HUMAN	0			12	1425	+	-	-		Ovarian(999;0.0443)	Frame_Shift_Del	397						
PHF12	0	broad.mit.edu	GRCh37	17	27233967	27233967	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-26-5134-01	TCGA-26-5134-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332830.4:c.2587A>G	p.Thr863Ala	p.T863A	ENST00000332830	NM_001033561.1	863	Acg/Gcg	0	C:0.0002		1			C	T/A	uc002hdg.1	protein_coding	YES	CCDS32598.1			2587/3015									ovary(1)	1	c.(2587-2589)ACG>GCG			PROSITE_profiles:PS50006,hmmpanther:PTHR24102:SF16,hmmpanther:PTHR24102,Gene3D:2.60.200.20,Superfamily_domains:SSF49879	PHD finger protein 12 isoform 1			C:0	ENSP00000329933		14/15	8.24E-06	9.64E-05							rs374710227,COSM2157030	14/15	.		ENST00000332830	Transcript			negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	ENSG00000109118	g.chr17:27233967T>C	20816			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=PHF12_HUMAN&rb=324&re=1002&var=T863A	NA	getma.org/?cm=var&var=hg19,17,27233967,T,C&fts=all	T863A	--	--	1																																		PHF12_uc010wbb.1_Missense_Mutation_p.T845A	0,1	1		possibly_damaging(0.473)	p.T863A	NM_001033561	NP_001028733		tolerated(0.05)	0,1	PHF12_HUMAN	PHF12	HGNC	Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		K7ERZ4_HUMAN,K7ENU0_HUMAN,K7EMX6_HUMAN		14	3117	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		UPI0000197E05	863			FHA.		SNV	PHF12,missense_variant,p.Thr863Ala,ENST00000332830,NM_001033561.1;PHF12,3_prime_UTR_variant,,ENST00000577226,;DHRS13,upstream_gene_variant,,ENST00000394901,;DHRS13,upstream_gene_variant,,ENST00000378895,NM_144683.3;DHRS13,upstream_gene_variant,,ENST00000426464,;PHF12,downstream_gene_variant,,ENST00000579036,;PHF12,downstream_gene_variant,,ENST00000582655,;PHF12,downstream_gene_variant,,ENST00000579563,;PHF12,3_prime_UTR_variant,,ENST00000589176,;PHF12,downstream_gene_variant,,ENST00000582436,;PHF12,downstream_gene_variant,,ENST00000378879,;DHRS13,upstream_gene_variant,,ENST00000581759,;	uc002hdg.1	c.2587A>G	3398/4759	4	4			c.2587A>G						17	SNP	c.(2587-2589)ACG>GCG	43	43			ovary(1)	1	Broad	PHD finger protein 12 isoform 1			27233967		0.507	ENSG00000109118	11627	g.chr17:27233967T>C	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding							550.454246	KEEP	98	66	-1	103	96	98	66	-1	551.046323	103	96	0.455357	1	0	0	0	0	1	0	0	0	--	--		0	C			PHF12_uc010wbb.1_Missense_Mutation_p.T845A	183	GBM-26-5134-TP	p.T863A	T	TTGTCCACCGTTGTCCCATGC	NM_001033561	NP_001028733	27233967	Q96QT6	PHF12_HUMAN	0	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		14	3117	-	C	C	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Missense_Mutation	863			FHA.			
PHF12	0	broad.mit.edu	GRCh37	17	27240145	27240145	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-26-5136-01	TCGA-26-5136-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332830.4:c.1444A>G	p.Thr482Ala	p.T482A	ENST00000332830	NM_001033561.1	482	Aca/Gca	0			1			C	T/A	uc002hdg.1	protein_coding	YES	CCDS32598.1			1444/3015									ovary(1)	1	c.(1444-1446)ACA>GCA			hmmpanther:PTHR24102:SF16,hmmpanther:PTHR24102	PHD finger protein 12 isoform 1				ENSP00000329933		15-Sep									COSM2157142	15-Sep	.		ENST00000332830	Transcript			negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	ENSG00000109118	g.chr17:27240145T>C	20816			MODERATE		-0.695	neutral	getma.org/?cm=msa&ty=f&p=PHF12_HUMAN&rb=324&re=1002&var=T482A	NA	getma.org/?cm=var&var=hg19,17,27240145,T,C&fts=all	T482A	--	--	1																																		PHF12_uc010wbb.1_Missense_Mutation_p.T464A|PHF12_uc002hdi.1_Missense_Mutation_p.T478A|PHF12_uc002hdj.1_Missense_Mutation_p.T482A|PHF12_uc010crw.1_Missense_Mutation_p.T185A|PHF12_uc002hdh.1_Missense_Mutation_p.T265A	1	1		benign(0)	p.T482A	NM_001033561	NP_001028733		tolerated(0.85)	1	PHF12_HUMAN	PHF12	HGNC	Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		K7ERZ4_HUMAN,K7ENU0_HUMAN,K7EMX6_HUMAN		9	1974	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		UPI0000197E05	482			Interaction with SIN3A.		SNV	PHF12,missense_variant,p.Thr482Ala,ENST00000577226,;PHF12,missense_variant,p.Thr482Ala,ENST00000332830,NM_001033561.1;PHF12,missense_variant,p.Thr482Ala,ENST00000268756,NM_020889.2;PHF12,upstream_gene_variant,,ENST00000579036,;PHF12,non_coding_transcript_exon_variant,,ENST00000582655,;PHF12,upstream_gene_variant,,ENST00000579563,;PHF12,missense_variant,p.Thr482Ala,ENST00000378879,;PHF12,3_prime_UTR_variant,,ENST00000583524,;PHF12,non_coding_transcript_exon_variant,,ENST00000582436,;PHF12,intron_variant,,ENST00000589176,;PHF12,downstream_gene_variant,,ENST00000584822,;	uc002hdg.1	c.1444A>G	2255/4759	3	3			c.1444A>G						17	SNP	c.(1444-1446)ACA>GCA	7	7			ovary(1)	1	Broad	PHD finger protein 12 isoform 1			27240145		0.542	ENSG00000109118	11627	g.chr17:27240145T>C	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding							356.792215	KEEP	53	56	-1	108	91	53	56	-1	361.851855	108	91	0.357895	1	0	0	0	0	1	0	0	0	--	--		0	C			PHF12_uc010wbb.1_Missense_Mutation_p.T464A|PHF12_uc002hdi.1_Missense_Mutation_p.T478A|PHF12_uc002hdj.1_Missense_Mutation_p.T482A|PHF12_uc010crw.1_Missense_Mutation_p.T185A|PHF12_uc002hdh.1_Missense_Mutation_p.T265A	185	GBM-26-5136-TP	p.T482A	T	TTGTCAGCTGTTTGCAGGGAG	NM_001033561	NP_001028733	27240145	Q96QT6	PHF12_HUMAN	0	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		9	1974	-	C	C	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Missense_Mutation	482			Interaction with SIN3A.			
PHF2	5253		GRCh37	9	96421820	96421820	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000359246.4:c.1267C>T	p.Pro423Ser	p.P423S	ENST00000359246	NM_005392.3	423	Ccg/Tcg	0																																																																																																																																																																																																																																												
PHF2	5253		GRCh37	9	96408031	96408031	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000359246.4:c.420G>A	p.Pro140=	p.P140=	ENST00000359246	NM_005392.3	140	ccG/ccA	0																																																																																																																																																																																																																																												
PHF20	51230	broad.mit.edu	GRCh37	20	34487354	34487354	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0750-01	TCGA-06-0750-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374012.3:c.1345G>T	p.Asp449Tyr	p.D449Y	ENST00000374012		449	Gac/Tac	0			1			T	D/Y	uc002xek.1	protein_coding	YES	CCDS13268.1			1345/3039									ovary(1)	1	c.(1345-1347)GAC>TAC			hmmpanther:PTHR15856,hmmpanther:PTHR15856:SF27	PHD finger protein 20				ENSP00000363124		18-Oct									COSM2151935	18-Oct	.		ENST00000374012	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	ENSG00000025293	g.chr20:34487354G>T	16098			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=PHF20_HUMAN&rb=280&re=479&var=D449Y	NA	getma.org/?cm=var&var=hg19,20,34487354,G,T&fts=all	D449Y	--	--	1																																		PHF20_uc002xei.1_Missense_Mutation_p.D449Y|PHF20_uc010gfo.1_Missense_Mutation_p.D449Y|PHF20_uc002xej.1_Missense_Mutation_p.D333Y	1	1		possibly_damaging(0.882)	p.D449Y	NM_016436	NP_057520		tolerated(0.08)	1	PHF20_HUMAN	PHF20	HGNC	Q9BVI0	PHF20_HUMAN			Q5JXL1_HUMAN,Q5JWZ0_HUMAN,B3KUL4_HUMAN		10	1456	+	Breast(12;0.00631)|all_lung(11;0.0145)		UPI000006E61B	449					SNV	PHF20,missense_variant,p.Asp449Tyr,ENST00000374012,;PHF20,missense_variant,p.Asp449Tyr,ENST00000339089,;PHF20,missense_variant,p.Asp449Tyr,ENST00000374000,;PHF20,3_prime_UTR_variant,,ENST00000439301,NM_016436.4;PHF20,non_coding_transcript_exon_variant,,ENST00000481202,;PHF20,non_coding_transcript_exon_variant,,ENST00000495338,;	uc002xek.1	c.1345G>T	1474/5922	1	1			c.1345G>T						20	SNP	c.(1345-1347)GAC>TAC	2	2			ovary(1)	1	Broad	PHD finger protein 20			34487354		0.348	ENSG00000025293	11635	g.chr20:34487354G>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding							50.730963	KEEP	11	12	0.47826087	40	29	11	12	0.47826087	55.505965	40	29	0.25	1	0	0	0	0	1	0	0	0	--	--		0	T			PHF20_uc002xei.1_Missense_Mutation_p.D449Y|PHF20_uc010gfo.1_Missense_Mutation_p.D449Y|PHF20_uc002xej.1_Missense_Mutation_p.D333Y	70	GBM-06-0750-TP	p.D449Y	G	TGTCGACCTAGACCATAAGTT	NM_016436	NP_057520	34487354	Q9BVI0	PHF20_HUMAN	0			10	1456	+	T	T	Breast(12;0.00631)|all_lung(11;0.0145)		Missense_Mutation	449						
PHF20	0	broad.mit.edu	GRCh37	20	34526877	34526877	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374012.3:c.2559G>A	p.Gln853=	p.Q853=	ENST00000374012		853	caG/caA	0			1			A	Q	uc002xek.1	protein_coding	YES	CCDS13268.1			2559/3039									ovary(1)	1	c.(2557-2559)CAG>CAA			hmmpanther:PTHR15856,hmmpanther:PTHR15856:SF27	PHD finger protein 20				ENSP00000363124		16/18									COSM3405046	16/18	.		ENST00000374012	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	ENSG00000025293	g.chr20:34526877G>A	16098			LOW								--	--	1																																			1	1			p.Q853Q	NM_016436	NP_057520			1	PHF20_HUMAN	PHF20	HGNC	Q9BVI0	PHF20_HUMAN			Q5JXL1_HUMAN,Q5JWZ0_HUMAN,B3KUL4_HUMAN		16	2670	+	Breast(12;0.00631)|all_lung(11;0.0145)		UPI000006E61B	853					SNV	PHF20,synonymous_variant,p.=,ENST00000374012,;PHF20,3_prime_UTR_variant,,ENST00000439301,NM_016436.4;PHF20,non_coding_transcript_exon_variant,,ENST00000473943,;	uc002xek.1	c.2559G>A	2688/5922	1	1			c.2559G>A						20	SNP	c.(2557-2559)CAG>CAA	50	50			ovary(1)	1	Broad	PHD finger protein 20			34526877		0.647	ENSG00000025293	11635	g.chr20:34526877G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding							49.630828	KEEP	16	7	-1	34	37	16	7	-1	54.740521	34	37	0.240964	1	0	0	0	0	0	0	1	0	--	--		0	A				240	GBM-32-2632-TP	p.Q853Q	G	CCGTGGAGCAGAAGCTGGTGG	NM_016436	NP_057520	34526877	Q9BVI0	PHF20_HUMAN	0			16	2670	+	A	A	Breast(12;0.00631)|all_lung(11;0.0145)		Silent	853						
PHF20L1	51105	broad.mit.edu	GRCh37	8	133829196	133829196	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0189-01	TCGA-06-0189-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395386.2:c.1247A>C	p.Gln416Pro	p.Q416P	ENST00000395386	NM_016018.4	416	cAg/cCg	0			1			C	Q/P	uc003ytt.2	protein_coding	YES	CCDS6367.2			1247/3054									ovary(2)	2	c.(1246-1248)CAG>CCG			hmmpanther:PTHR15856,hmmpanther:PTHR15856:SF26	PHD finger protein 20-like 1 isoform 1				ENSP00000378784		21-Nov									COSM3412762,COSM3412763	21-Nov	.		ENST00000395386	Transcript					nucleic acid binding|zinc ion binding	ENSG00000129292	g.chr8:133829196A>C	24280			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=P20L1_HUMAN&rb=415&re=518&var=Q416P	NA	getma.org/?cm=var&var=hg19,8,133829196,A,C&fts=all	Q416P	--	--	1																																		PHF20L1_uc003yts.2_Missense_Mutation_p.Q416P|PHF20L1_uc011lja.1_Missense_Mutation_p.Q390P|PHF20L1_uc003ytu.1_Intron	1,1	1		probably_damaging(0.928)	p.Q416P	NM_016018	NP_057102		deleterious(0.05)	1,1	P20L1_HUMAN	PHF20L1	HGNC	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		E5RK91_HUMAN,B3KWX5_HUMAN		11	1572	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		UPI0000DBD7AF	416					SNV	PHF20L1,missense_variant,p.Gln416Pro,ENST00000395386,NM_016018.4;PHF20L1,missense_variant,p.Gln391Pro,ENST00000395390,NM_001277196.1;PHF20L1,5_prime_UTR_variant,,ENST00000220847,;PHF20L1,downstream_gene_variant,,ENST00000337920,NM_198513.1;PHF20L1,downstream_gene_variant,,ENST00000395376,;PHF20L1,non_coding_transcript_exon_variant,,ENST00000469979,;PHF20L1,non_coding_transcript_exon_variant,,ENST00000361997,;PHF20L1,non_coding_transcript_exon_variant,,ENST00000395383,;PHF20L1,non_coding_transcript_exon_variant,,ENST00000315808,;PHF20L1,non_coding_transcript_exon_variant,,ENST00000522253,;PHF20L1,intron_variant,,ENST00000486199,;PHF20L1,upstream_gene_variant,,ENST00000460236,;PHF20L1,downstream_gene_variant,,ENST00000395374,;	uc003ytt.2	c.1247A>C	1546/6237	3	3			c.1247A>C						8	SNP	c.(1246-1248)CAG>CCG	13	13			ovary(2)	2	Broad	PHD finger protein 20-like 1 isoform 1			133829196		0.453	ENSG00000129292	11636	g.chr8:133829196A>C			nucleic acid binding|zinc ion binding							-7.735765	KEEP	6	0	-1	58	45	6	0	-1	13.059954	58	45	0.058824	1	0	0	0	0	1	0	0	0	--	--		0	C			PHF20L1_uc003yts.2_Missense_Mutation_p.Q416P|PHF20L1_uc011lja.1_Missense_Mutation_p.Q390P|PHF20L1_uc003ytu.1_Intron	42	GBM-06-0189-TP	p.Q416P	A	AGAAGATCTCAGCGTTTAGCC	NM_016018	NP_057102	133829196	A8MW92	P20L1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		11	1572	+	C	C	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	416						
PHF20L1	51105		GRCh37	8	133806658	133806658	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000395386.2:c.86A>G	p.Tyr29Cys	p.Y29C	ENST00000395386	NM_016018.4	29	tAt/tGt	0																																																																																																																																																																																																																																												
PHF23	79142		GRCh37	17	7139423	7139423	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000320316.3:c.823C>T	p.Leu275=	p.L275=	ENST00000320316	NM_024297.2	275	Ctg/Ttg	0																																																																																																																																																																																																																																												
PHF3	0	broad.mit.edu	GRCh37	6	64416078	64416078	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-19-2625-01	TCGA-19-2625-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262043.3:c.3527A>T	p.Gln1176Leu	p.Q1176L	ENST00000262043		1176	cAg/cTg	0			1			T	Q/L	uc003pep.1	protein_coding	YES	CCDS4966.1			3527/6120									ovary(3)|lung(1)|skin(1)	5	c.(3526-3528)CAG>CTG			hmmpanther:PTHR14914:SF6,hmmpanther:PTHR14914	PHD finger protein 3				ENSP00000262043		16-Dec									COSM3411242	16-Dec	.		ENST00000262043	Transcript			multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	ENSG00000118482	g.chr6:64416078A>T	8921			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=PHF3_HUMAN&rb=1041&re=1208&var=Q1176L	NA	getma.org/?cm=var&var=hg19,6,64416078,A,T&fts=all	Q1176L	--	--	1																																		PHF3_uc010kah.1_Missense_Mutation_p.Q990L|PHF3_uc003pen.2_Missense_Mutation_p.Q1088L|PHF3_uc011dxs.1_Missense_Mutation_p.Q445L	1	1		benign(0.354)	p.Q1176L	NM_015153	NP_055968		tolerated(0.08)	1	PHF3_HUMAN	PHF3	HGNC	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		E9PE34_HUMAN,E7EVH3_HUMAN,E7ER40_HUMAN,B3KP41_HUMAN		11	3553	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		UPI000007154D	1176					SNV	PHF3,missense_variant,p.Gln1176Leu,ENST00000262043,;PHF3,missense_variant,p.Gln1176Leu,ENST00000393387,NM_015153.2;PHF3,missense_variant,p.Gln990Leu,ENST00000506783,;PHF3,missense_variant,p.Gln445Leu,ENST00000515594,;PHF3,upstream_gene_variant,,ENST00000505138,;PHF3,downstream_gene_variant,,ENST00000503248,;PHF3,3_prime_UTR_variant,,ENST00000509876,;	uc003pep.1	c.3527A>T	3867/8233	1	1			c.3527A>T						6	SNP	c.(3526-3528)CAG>CTG	1	1			ovary(3)|lung(1)|skin(1)	5	Broad	PHD finger protein 3			64416078		0.378	ENSG00000118482	11640	g.chr6:64416078A>T	multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	GBM(135;136 1820 29512 34071 46235)		350	GBM(135;136 1820 29512 34071 46235)		350	95.36145	KEEP	17	17	-1	39	43	17	17	-1	98.64984	39	43	0.31068	1	0	0	0	0	1	0	0	0	--	--		0	T			PHF3_uc010kah.1_Missense_Mutation_p.Q990L|PHF3_uc003pen.2_Missense_Mutation_p.Q1088L|PHF3_uc011dxs.1_Missense_Mutation_p.Q445L	165	GBM-19-2625-TP	p.Q1176L	A	GAGGAGAAACAGGAGTCTCCA	NM_015153	NP_055968	64416078	Q92576	PHF3_HUMAN	0	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		11	3553	+	T	T	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		Missense_Mutation	1176						
PHF3	0	broad.mit.edu	GRCh37	6	64422167	64422167	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-27-1838-01	TCGA-27-1838-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262043.3:c.4683A>G	p.Arg1561=	p.R1561=	ENST00000262043		1561	agA/agG	0			1			G	R	uc003pep.1	protein_coding	YES	CCDS4966.1			4683/6120									ovary(3)|lung(1)|skin(1)	5	c.(4681-4683)AGA>AGG			hmmpanther:PTHR14914:SF6,hmmpanther:PTHR14914	PHD finger protein 3				ENSP00000262043		16/16									COSM3411243	16/16	.		ENST00000262043	Transcript			multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	ENSG00000118482	g.chr6:64422167A>G	8921			LOW								--	--	1																																		PHF3_uc003pen.2_Silent_p.R1473R|PHF3_uc011dxs.1_Silent_p.R830R	1	1			p.R1561R	NM_015153	NP_055968			1	PHF3_HUMAN	PHF3	HGNC	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		E9PE34_HUMAN,E7EVH3_HUMAN,E7ER40_HUMAN,B3KP41_HUMAN		15	4709	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		UPI000007154D	1561					SNV	PHF3,synonymous_variant,p.=,ENST00000262043,;PHF3,synonymous_variant,p.=,ENST00000393387,NM_015153.2;PHF3,synonymous_variant,p.=,ENST00000515594,;PHF3,intron_variant,,ENST00000505138,;PHF3,downstream_gene_variant,,ENST00000506783,;PHF3,3_prime_UTR_variant,,ENST00000509876,;	uc003pep.1	c.4683A>G	5023/8233	3	3			c.4683A>G						6	SNP	c.(4681-4683)AGA>AGG	14	14			ovary(3)|lung(1)|skin(1)	5	Broad	PHD finger protein 3			64422167		0.353	ENSG00000118482	11640	g.chr6:64422167A>G	multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	GBM(135;136 1820 29512 34071 46235)		350	GBM(135;136 1820 29512 34071 46235)		350	30.303691	KEEP	9	9	-1	69	62	9	9	-1	48.863522	69	62	0.121212	1	0	0	0	0	0	0	1	0	--	--		0	G			PHF3_uc003pen.2_Silent_p.R1473R|PHF3_uc011dxs.1_Silent_p.R830R	197	GBM-27-1838-TP	p.R1561R	A	TTAGTCTCAGAGGTAAGCCAC	NM_015153	NP_055968	64422167	Q92576	PHF3_HUMAN	0	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		15	4709	+	G	G	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		Silent	1561						
PHF5A	0	broad.mit.edu	GRCh37	22	41863525	41863525	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0618-01	TCGA-12-0618-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216252.3:c.170G>A	p.Arg57His	p.R57H	ENST00000216252	NM_032758.3	57	cGc/cAc	0			1			T	R/H	uc003bab.2	protein_coding	YES	CCDS14016.1			170/333										0	c.(169-171)CGC>CAC			hmmpanther:PTHR13120,Pfam_domain:PF03660,PIRSF_domain:PIRSF016468	PHD-finger 5A				ENSP00000216252		4-Mar									COSM2153608	4-Mar	.		ENST00000216252	Transcript			nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	nuclear speck|U12-type spliceosomal complex|U2 snRNP	DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000100410	g.chr22:41863525C>T	18000			MODERATE		2.705	medium	getma.org/?cm=msa&ty=f&p=PHF5A_HUMAN&rb=1&re=106&var=R57H	getma.org/pdb.php?prot=PHF5A_HUMAN&from=1&to=106&var=R57H	getma.org/?cm=var&var=hg19,22,41863525,C,T&fts=all	R57H	--	--	1																																		ACO2_uc003bac.2_5'Flank|ACO2_uc003bad.2_5'Flank	1	1		benign(0.178)	p.R57H	NM_032758	NP_116147		tolerated(0.07)	1	PHF5A_HUMAN	PHF5A	HGNC	Q7RTV0	PHF5A_HUMAN					3	221	-			UPI000000110B	57					SNV	PHF5A,missense_variant,p.Arg57His,ENST00000216252,NM_032758.3;ACO2,upstream_gene_variant,,ENST00000396512,;ACO2,upstream_gene_variant,,ENST00000216254,NM_001098.2;PHF5A,non_coding_transcript_exon_variant,,ENST00000491254,;ACO2,upstream_gene_variant,,ENST00000471094,;PHF5A,non_coding_transcript_exon_variant,,ENST00000459687,;	uc003bab.2	c.170G>A	242/1086	2	2			c.170G>A						22	SNP	c.(169-171)CGC>CAC	43	43				0	Broad	PHD-finger 5A			41863525		0.502	ENSG00000100410	11641	g.chr22:41863525C>T	nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	nuclear speck|U12-type spliceosomal complex|U2 snRNP	DNA binding|sequence-specific DNA binding transcription factor activity	Ovarian(15;130 571 1826 2981 46141)			Ovarian(15;130 571 1826 2981 46141)			165.576607	KEEP	31	30	-1	43	37	31	30	-1	166.299968	43	37	0.421053	1	0	0	0	0	1	0	0	0	--	--		0	T			ACO2_uc003bac.2_5'Flank|ACO2_uc003bad.2_5'Flank	119	GBM-12-0618-TP	p.R57H	C	GATCACACAGCGCCCCTGGTA	NM_032758	NP_116147	41863525	Q7RTV0	PHF5A_HUMAN	0			3	221	-	T	T			Missense_Mutation	57						
PHF8	0	broad.mit.edu	GRCh37	X	54037681	54037681	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-28-5207-01	TCGA-28-5207-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357988.5:c.928G>C	p.Ala310Pro	p.A310P	ENST00000357988	NM_001184896.1	310	Gcc/Ccc	0			1			G	A/P	uc004dsu.2	protein_coding	YES	CCDS55420.1			928/3183									ovary(3)	3	c.(928-930)GCC>CCC			Gene3D:1vrbA01,Pfam_domain:PF02373,PROSITE_profiles:PS51184,hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF11,SMART_domains:SM00558,Superfamily_domains:SSF51197	PHD finger protein 8				ENSP00000350676		22-Aug									COSM3406485,COSM3406487,COSM3406486,COSM3406484	22-Aug	.		ENST00000357988	Transcript	1		brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	ENSG00000172943	g.chrX:54037681C>G	20672			MODERATE		1.365	low	getma.org/?cm=msa&ty=f&p=PHF8_HUMAN&rb=270&re=370&var=A310P	getma.org/pdb.php?prot=PHF8_HUMAN&from=270&to=370&var=A310P	getma.org/?cm=var&var=hg19,X,54037681,C,G&fts=all	A310P	--	--	1																																		PHF8_uc004dst.2_Missense_Mutation_p.A274P|PHF8_uc004dsv.2_Missense_Mutation_p.A140P|PHF8_uc004dsw.2_Missense_Mutation_p.A274P|PHF8_uc004dsx.2_Missense_Mutation_p.A38P|PHF8_uc004dsy.2_Missense_Mutation_p.A274P	1,1,1,1	1		probably_damaging(0.968)	p.A310P	NM_015107	NP_055922		deleterious(0.01)	1,1,1,1	PHF8_HUMAN	PHF8	HGNC	Q9UPP1	PHF8_HUMAN			Q5JPR8_HUMAN,B3KMV4_HUMAN,B0QZZ4_HUMAN,B0QZZ3_HUMAN,B0QZZ2_HUMAN,B0QZE1_HUMAN		8	1001	-			UPI00001C2071	310			JmjC.		SNV	PHF8,missense_variant,p.Ala274Pro,ENST00000338154,NM_015107.2;PHF8,missense_variant,p.Ala310Pro,ENST00000357988,NM_001184896.1;PHF8,missense_variant,p.Ala274Pro,ENST00000338946,NM_001184897.1;PHF8,missense_variant,p.Ala178Pro,ENST00000396282,;PHF8,missense_variant,p.Ala274Pro,ENST00000322659,NM_001184898.1;PHF8,missense_variant,p.Ala38Pro,ENST00000443302,;PHF8,non_coding_transcript_exon_variant,,ENST00000490635,;PHF8,upstream_gene_variant,,ENST00000413386,;	uc004dsu.2	c.928G>C	1287/6024	3	3			c.928G>C						23	SNP	c.(928-930)GCC>CCC	64	64			ovary(3)	3	Broad	PHD finger protein 8			54037681		0.448	ENSG00000172943	11644	g.chrX:54037681C>G	brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding							-7.633628	KEEP	0	3	-1	27	40	0	3	-1	6.376677	27	40	0.046875	1	0	0	0	0	1	0	0	0	--	--		0	G			PHF8_uc004dst.2_Missense_Mutation_p.A274P|PHF8_uc004dsv.2_Missense_Mutation_p.A140P|PHF8_uc004dsw.2_Missense_Mutation_p.A274P|PHF8_uc004dsx.2_Missense_Mutation_p.A38P|PHF8_uc004dsy.2_Missense_Mutation_p.A274P	216	GBM-28-5207-TP	p.A310P	C	GTCAGATTGGCATTTGTTGGG	NM_015107	NP_055922	54037681	Q9UPP1	PHF8_HUMAN	0			8	1001	-	G	G			Missense_Mutation	310			JmjC.			
PHF8	23133		GRCh37	X	53970579	53970579	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000357988.5:c.2745G>A	p.Lys915=	p.K915=	ENST00000357988	NM_001184896.1	915	aaG/aaA	0																																																																																																																																																																																																																																												
PHGDH	0	broad.mit.edu	GRCh37	1	120285535	120285535	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-27-2527-01	TCGA-27-2527-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369409.4:c.1315C>G	p.Gln439Glu	p.Q439E	ENST00000369409	NM_006623.3	439	Caa/Gaa	0			1			G	Q/E	uc001ehz.2	protein_coding	YES	CCDS904.1			1315/1602									ovary(1)	1	c.(1315-1317)CAA>GAA			Superfamily_domains:SSF143548	phosphoglycerate dehydrogenase	NADH(DB00157)			ENSP00000358417		12-Nov									COSM3399606,COSM3399607	12-Nov	.		ENST00000369409	Transcript	1		brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity	ENSG00000092621	g.chr1:120285535C>G	8923			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=SERA_HUMAN&rb=318&re=517&var=Q439E	NA	getma.org/?cm=var&var=hg19,1,120285535,C,G&fts=all	Q439E	--	--	1																																		PHGDH_uc009whm.2_Missense_Mutation_p.Q337E|PHGDH_uc001eia.2_Missense_Mutation_p.Q438E|PHGDH_uc009whn.2_Intron|PHGDH_uc001eib.2_Missense_Mutation_p.Q405E|PHGDH_uc001eic.2_RNA	1,1	1		benign(0.367)	p.Q439E	NM_006623	NP_006614		tolerated(0.06)	1,1	SERA_HUMAN	PHGDH	HGNC	O43175	SERA_HUMAN		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	Q9UMY3_HUMAN,Q9UMY2_HUMAN,Q96RV8_HUMAN,Q96RV7_HUMAN,Q96RV6_HUMAN,Q96RV5_HUMAN,Q8N5M8_HUMAN		11	1542	+	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)	UPI000013586A	439					SNV	PHGDH,missense_variant,p.Gln405Glu,ENST00000369407,;PHGDH,missense_variant,p.Gln439Glu,ENST00000369409,NM_006623.3;PHGDH,non_coding_transcript_exon_variant,,ENST00000482968,;	uc001ehz.2	c.1315C>G	1451/1913	3	3			c.1315C>G						1	SNP	c.(1315-1317)CAA>GAA	4	4			ovary(1)	1	Broad	phosphoglycerate dehydrogenase		NADH(DB00157)	120285535		0.657	ENSG00000092621	11645	g.chr1:120285535C>G	brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity							11.363642	KEEP	5	7	-1	44	41	5	7	-1	23.951131	44	41	0.122222	1	0	0	0	0	1	0	0	0	--	--		0	G			PHGDH_uc009whm.2_Missense_Mutation_p.Q337E|PHGDH_uc001eia.2_Missense_Mutation_p.Q438E|PHGDH_uc009whn.2_Intron|PHGDH_uc001eib.2_Missense_Mutation_p.Q405E|PHGDH_uc001eic.2_RNA	204	GBM-27-2527-TP	p.Q439E	C	GGGCTTGGTCCAAGGCACTAC	NM_006623	NP_006614	120285535	O43175	SERA_HUMAN	0		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	11	1542	+	G	G	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)	Missense_Mutation	439						
PHKA1	5255	broad.mit.edu	GRCh37	X	71843109	71843109	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-6389-01	TCGA-06-6389-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373542.4:c.1810T>C	p.Leu604=	p.L604=	ENST00000373542	NM_002637.3	604	Ttg/Ctg	0			1			G	L	uc004eax.3	protein_coding	YES	CCDS14421.1			1810/3672									ovary(3)|skin(1)	4	c.(1810-1812)TTG>CTG			Pfam_domain:PF00723,hmmpanther:PTHR10749,hmmpanther:PTHR10749:SF4	phosphorylase kinase, alpha 1 (muscle) isoform				ENSP00000362643		18/32										18/32	.		ENST00000373542	Transcript	1		glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	ENSG00000067177	g.chrX:71843109A>G	8925			LOW								--	--	1																																		PHKA1_uc004eay.3_Silent_p.L604L|PHKA1_uc011mqi.1_Silent_p.L604L		1			p.L604L	NM_002637	NP_002628				KPB1_HUMAN	PHKA1	HGNC	P46020	KPB1_HUMAN					18	2111	-	Renal(35;0.156)		UPI000013D340	604					SNV	PHKA1,synonymous_variant,p.=,ENST00000373545,;PHKA1,synonymous_variant,p.=,ENST00000339490,NM_001122670.1;PHKA1,synonymous_variant,p.=,ENST00000373542,NM_002637.3;PHKA1,synonymous_variant,p.=,ENST00000541944,NM_001172436.1;PHKA1,synonymous_variant,p.=,ENST00000373539,;	uc004eax.3	c.1810T>C	1970/6020	3	3			c.1810T>C						23	SNP	c.(1810-1812)TTG>CTG	53	53			ovary(3)|skin(1)	4	Broad	phosphorylase kinase, alpha 1 (muscle) isoform			71843109		0.383	ENSG00000067177	11647	g.chrX:71843109A>G	glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity							16.461952	KEEP	4	5	-1	31	27	4	5	-1	23.578034	31	27	0.140351	1	0	0	0	0	0	0	1	0	--	--		0	G			PHKA1_uc004eay.3_Silent_p.L604L|PHKA1_uc011mqi.1_Silent_p.L604L	105	GBM-06-6389-TP	p.L604L	A	AACTCTGACAATTTACCTGTT	NM_002637	NP_002628	71843109	P46020	KPB1_HUMAN	0			18	2111	-	G	G	Renal(35;0.156)		Silent	604						
PHKA1	0	broad.mit.edu	GRCh37	X	71895990	71895990	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-4927-01	TCGA-76-4927-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373542.4:c.548T>C	p.Ile183Thr	p.I183T	ENST00000373542	NM_002637.3	183	aTa/aCa	0			1			G	I/T	uc004eax.3	protein_coding	YES	CCDS14421.1			548/3672									ovary(3)|skin(1)	4	c.(547-549)ATA>ACA			Gene3D:1.50.10.10,Pfam_domain:PF00723,hmmpanther:PTHR10749,hmmpanther:PTHR10749:SF4,Superfamily_domains:SSF48208	phosphorylase kinase, alpha 1 (muscle) isoform				ENSP00000362643		Jun-32									COSM3406585,COSM3406586	Jun-32	.		ENST00000373542	Transcript	1		glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	ENSG00000067177	g.chrX:71895990A>G	8925			MODERATE		2.95	medium	getma.org/?cm=msa&ty=f&p=KPB1_HUMAN&rb=8&re=922&var=I183T	NA	getma.org/?cm=var&var=hg19,X,71895990,A,G&fts=all	I183T	--	--	1																																		PHKA1_uc004eay.3_Missense_Mutation_p.I183T|PHKA1_uc011mqi.1_Missense_Mutation_p.I183T	1,1	1		possibly_damaging(0.89)	p.I183T	NM_002637	NP_002628		deleterious(0)	1,1	KPB1_HUMAN	PHKA1	HGNC	P46020	KPB1_HUMAN					6	849	-	Renal(35;0.156)		UPI000013D340	183					SNV	PHKA1,missense_variant,p.Ile183Thr,ENST00000373545,;PHKA1,missense_variant,p.Ile183Thr,ENST00000339490,NM_001122670.1;PHKA1,missense_variant,p.Ile183Thr,ENST00000373542,NM_002637.3;PHKA1,missense_variant,p.Ile183Thr,ENST00000541944,NM_001172436.1;PHKA1,missense_variant,p.Ile183Thr,ENST00000373539,;	uc004eax.3	c.548T>C	708/6020	3	3			c.548T>C						23	SNP	c.(547-549)ATA>ACA	59	59			ovary(3)|skin(1)	4	Broad	phosphorylase kinase, alpha 1 (muscle) isoform			71895990		0.388	ENSG00000067177	11647	g.chrX:71895990A>G	glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity							174.740248	KEEP	29	30	-1	28	19	29	30	-1	175.058746	28	19	0.566265	1	0	0	0	0	1	0	0	0	--	--		0	G			PHKA1_uc004eay.3_Missense_Mutation_p.I183T|PHKA1_uc011mqi.1_Missense_Mutation_p.I183T	267	GBM-76-4927-TP	p.I183T	A	ACGTTCCCATATCCCGAAGTC	NM_002637	NP_002628	71895990	P46020	KPB1_HUMAN	0			6	849	-	G	G	Renal(35;0.156)		Missense_Mutation	183						
PHKG1	5260		GRCh37	7	56151084	56151084	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000452681.2:c.530A>G	p.Asn177Ser	p.N177S	ENST00000452681	NM_001258459.1	177	aAc/aGc	0																																																																																																																																																																																																																																												
PHLDA2	7262	broad.mit.edu	GRCh37	11	2950491	2950491	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0750-01	TCGA-06-0750-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314222.4:c.104G>A	p.Arg35His	p.R35H	ENST00000314222	NM_003311.3	35	cGc/cAc	0			1			T	R/H	uc001lxa.1	protein_coding	YES	CCDS7741.1			104/459										0	c.(103-105)CGC>CAC			hmmpanther:PTHR15478,hmmpanther:PTHR15478:SF5,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	pleckstrin homology-like domain family A member				ENSP00000319231		2-Jan									COSM2151972	2-Jan	.		ENST00000314222	Transcript			apoptosis	cytoplasm|membrane		ENSG00000181649	g.chr11:2950491C>T	12385			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=PHLA2_HUMAN&rb=1&re=150&var=R35H	NA	getma.org/?cm=var&var=hg19,11,2950491,C,T&fts=all	R35H	--	--	1																																			1	1		possibly_damaging(0.729)	p.R35H	NM_003311	NP_003302		deleterious(0)	1	PHLA2_HUMAN	PHLDA2	HGNC	Q53GA4	PHLA2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)			1	160	-		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)	UPI0000072776	35			PH.		SNV	PHLDA2,missense_variant,p.Arg35His,ENST00000314222,NM_003311.3;SLC22A18,downstream_gene_variant,,ENST00000380574,;SLC22A18,downstream_gene_variant,,ENST00000312221,NM_002555.5;SLC22A18,downstream_gene_variant,,ENST00000347936,NM_183233.2;SLC22A18,downstream_gene_variant,,ENST00000449793,;SLC22A18,downstream_gene_variant,,ENST00000441077,;SLC22A18,downstream_gene_variant,,ENST00000449603,;SLC22A18,downstream_gene_variant,,ENST00000463571,;SLC22A18,downstream_gene_variant,,ENST00000495518,;	uc001lxa.1	c.104G>A	195/955	2	2			c.104G>A						11	SNP	c.(103-105)CGC>CAC	24	24				0	Broad	pleckstrin homology-like domain family A member			2950491		0.667	ENSG00000181649	11653	g.chr11:2950491C>T	apoptosis	cytoplasm|membrane								45.563359	KEEP	14	6	-1	21	15	14	6	-1	46.693033	21	15	0.34	1	0	0	0	0	1	0	0	0	--	--		0	T				70	GBM-06-0750-TP	p.R35H	C	CAGGCTCAGGCGGTCGGAGGT	NM_003311	NP_003302	2950491	Q53GA4	PHLA2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	160	-	T	T		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)	Missense_Mutation	35			PH.			
PHLDB1	0	broad.mit.edu	GRCh37	11	118521224	118521224	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1991-01	TCGA-32-1991-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361417.2:c.3846G>A	p.Arg1282=	p.R1282=	ENST00000361417	NM_015157.3	1282	cgG/cgA	0			1			A	R	uc001ptr.1	protein_coding	YES	CCDS8401.1			3846/4134										0	c.(3844-3846)CGG>CGA			PROSITE_profiles:PS50003,hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF16,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	pleckstrin homology-like domain, family B,				ENSP00000354498		21/24									COSM3397454	21/24	.		ENST00000361417	Transcript						ENSG00000019144	g.chr11:118521224G>A	23697			LOW								--	--	1																																		PHLDB1_uc001pts.2_Silent_p.R1282R|PHLDB1_uc001ptt.2_Silent_p.R1235R|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Silent_p.R1097R|PHLDB1_uc001ptw.1_Silent_p.R637R|PHLDB1_uc009zai.1_Silent_p.R318R|PHLDB1_uc001ptx.1_Silent_p.R318R	1	1			p.R1282R	NM_015157	NP_055972			1	PHLB1_HUMAN	PHLDB1	HGNC	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)			21	4199	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	UPI0000192101	1282			PH.		SNV	PHLDB1,synonymous_variant,p.=,ENST00000361417,NM_015157.3;PHLDB1,synonymous_variant,p.=,ENST00000356063,NM_001144759.2,NM_001144758.2;PHLDB1,synonymous_variant,p.=,ENST00000527898,;PHLDB1,synonymous_variant,p.=,ENST00000524713,;PHLDB1,non_coding_transcript_exon_variant,,ENST00000534672,;PHLDB1,non_coding_transcript_exon_variant,,ENST00000534140,;PHLDB1,downstream_gene_variant,,ENST00000528875,;PHLDB1,downstream_gene_variant,,ENST00000529005,;PHLDB1,3_prime_UTR_variant,,ENST00000530994,;PHLDB1,3_prime_UTR_variant,,ENST00000528594,;PHLDB1,3_prime_UTR_variant,,ENST00000525698,;PHLDB1,non_coding_transcript_exon_variant,,ENST00000532517,;PHLDB1,non_coding_transcript_exon_variant,,ENST00000526537,;PHLDB1,non_coding_transcript_exon_variant,,ENST00000525226,;PHLDB1,upstream_gene_variant,,ENST00000528823,;PHLDB1,downstream_gene_variant,,ENST00000392852,;	uc001ptr.1	c.3846G>A	4257/5753	2	2			c.3846G>A						11	SNP	c.(3844-3846)CGG>CGA	34	34				0	Broad	pleckstrin homology-like domain, family B,			118521224		0.572	ENSG00000019144	11655	g.chr11:118521224G>A										-44.806163	KEEP	2	3	-1	107	123	2	3	-1	7.568918	107	123	0.024038	1	0	0	0	0	0	0	1	0	--	--		0	A			PHLDB1_uc001pts.2_Silent_p.R1282R|PHLDB1_uc001ptt.2_Silent_p.R1235R|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Silent_p.R1097R|PHLDB1_uc001ptw.1_Silent_p.R637R|PHLDB1_uc009zai.1_Silent_p.R318R|PHLDB1_uc001ptx.1_Silent_p.R318R	234	GBM-32-1991-TP	p.R1282R	G	TCTTCGACCGGCTCAAGCGCA	NM_015157	NP_055972	118521224	Q86UU1	PHLB1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	21	4199	+	A	A	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	Silent	1282			PH.			
PHLDB2	0	broad.mit.edu	GRCh37	3	111632476	111632476	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01	TCGA-16-1045-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393925.3:c.1646G>A	p.Arg549Gln	p.R549Q	ENST00000393925	NM_001134439.1	549	cGg/cAg	0			1			A	R/Q	uc010hqa.2	protein_coding		CCDS46886.1			1646/3762									ovary(4)|skin(2)	6	c.(1645-1647)CGG>CAG			hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF17,Low_complexity_(Seg):seg	pleckstrin homology-like domain, family B,				ENSP00000377502		18-Mar									COSM3408123,COSM3408122,COSM3408121	18-Mar	.		ENST00000393925	Transcript				cytoplasm|intermediate filament cytoskeleton|plasma membrane		ENSG00000144824	g.chr3:111632476G>A	29573			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=PHLB2_HUMAN&rb=1&re=1117&var=R549Q	NA	getma.org/?cm=var&var=hg19,3,111632476,G,A&fts=all	R549Q	--	--	1																																		PHLDB2_uc003dyc.2_Missense_Mutation_p.R576Q|PHLDB2_uc003dyd.2_Missense_Mutation_p.R549Q|PHLDB2_uc003dyg.2_Missense_Mutation_p.R549Q|PHLDB2_uc003dyh.2_Missense_Mutation_p.R549Q|PHLDB2_uc003dyi.2_Missense_Mutation_p.R135Q|PHLDB2_uc003dyf.3_Missense_Mutation_p.R549Q	1,1,1			benign(0.095)	p.R549Q	NM_001134438	NP_001127910		tolerated(0.27)	1,1,1	PHLB2_HUMAN	PHLDB2	HGNC	Q86SQ0	PHLB2_HUMAN			Q8NEI7_HUMAN,Q659D2_HUMAN		3	2057	+			UPI0000457152	549					SNV	PHLDB2,missense_variant,p.Arg549Gln,ENST00000431670,NM_001134438.1;PHLDB2,missense_variant,p.Arg549Gln,ENST00000412622,NM_145753.2;PHLDB2,missense_variant,p.Arg549Gln,ENST00000477695,;PHLDB2,missense_variant,p.Arg576Gln,ENST00000393923,NM_001134437.1;PHLDB2,missense_variant,p.Arg549Gln,ENST00000393925,NM_001134439.1;PHLDB2,missense_variant,p.Arg549Gln,ENST00000481953,;PHLDB2,missense_variant,p.Arg135Gln,ENST00000495180,;PHLDB2,missense_variant,p.Arg549Gln,ENST00000498699,;	uc010hqa.2	c.1646G>A	1743/5543	1	1			c.1646G>A						3	SNP	c.(1645-1647)CGG>CAG	64	64			ovary(4)|skin(2)	6	Broad	pleckstrin homology-like domain, family B,			111632476		0.522	ENSG00000144824	11656	g.chr3:111632476G>A		cytoplasm|intermediate filament cytoskeleton|plasma membrane								91.013958	KEEP	23	45	-1	212	282	23	45	-1	164.144088	212	282	0.121154	1	0	0	0	0	1	0	0	0	--	--		0	A			PHLDB2_uc003dyc.2_Missense_Mutation_p.R576Q|PHLDB2_uc003dyd.2_Missense_Mutation_p.R549Q|PHLDB2_uc003dyg.2_Missense_Mutation_p.R549Q|PHLDB2_uc003dyh.2_Missense_Mutation_p.R549Q|PHLDB2_uc003dyi.2_Missense_Mutation_p.R135Q|PHLDB2_uc003dyf.3_Missense_Mutation_p.R549Q	157	GBM-16-1045-TP	p.R549Q	G	GACCTCACCCGGACTCCTCCA	NM_001134438	NP_001127910	111632476	Q86SQ0	PHLB2_HUMAN	0			3	2057	+	A	A			Missense_Mutation	549						
PHLDB2	0	broad.mit.edu	GRCh37	3	111603461	111603461	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-28-2502-01	TCGA-28-2502-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393925.3:c.537G>C	p.Met179Ile	p.M179I	ENST00000393925	NM_001134439.1	179	atG/atC	0			1			C	M/I	uc010hqa.2	protein_coding		CCDS46886.1			537/3762									ovary(4)|skin(2)	6	c.(535-537)ATG>ATC			hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF17	pleckstrin homology-like domain, family B,				ENSP00000377502		18-Feb									COSM3408114,COSM3408113,COSM3408112	18-Feb	.		ENST00000393925	Transcript				cytoplasm|intermediate filament cytoskeleton|plasma membrane		ENSG00000144824	g.chr3:111603461G>C	29573			MODERATE		1.155	low	getma.org/?cm=msa&ty=f&p=PHLB2_HUMAN&rb=1&re=1117&var=M179I	NA	getma.org/?cm=var&var=hg19,3,111603461,G,C&fts=all	M179I	--	--	1																																		PHLDB2_uc003dyc.2_Missense_Mutation_p.M206I|PHLDB2_uc003dyd.2_Missense_Mutation_p.M179I|PHLDB2_uc003dyg.2_Missense_Mutation_p.M179I|PHLDB2_uc003dyh.2_Missense_Mutation_p.M179I|PHLDB2_uc003dye.3_Missense_Mutation_p.M179I|PHLDB2_uc003dyf.3_Missense_Mutation_p.M179I	1,1,1			benign(0.003)	p.M179I	NM_001134438	NP_001127910		tolerated(0.07)	1,1,1	PHLB2_HUMAN	PHLDB2	HGNC	Q86SQ0	PHLB2_HUMAN			Q8NEI7_HUMAN,Q659D2_HUMAN		2	948	+			UPI0000457152	179					SNV	PHLDB2,missense_variant,p.Met179Ile,ENST00000431670,NM_001134438.1;PHLDB2,missense_variant,p.Met179Ile,ENST00000412622,NM_145753.2;PHLDB2,missense_variant,p.Met179Ile,ENST00000477695,;PHLDB2,missense_variant,p.Met206Ile,ENST00000393923,NM_001134437.1;PHLDB2,missense_variant,p.Met179Ile,ENST00000393925,NM_001134439.1;PHLDB2,missense_variant,p.Met179Ile,ENST00000481953,;PHLDB2,missense_variant,p.Met179Ile,ENST00000498699,;PHLDB2,missense_variant,p.Met179Ile,ENST00000478922,;	uc010hqa.2	c.537G>C	634/5543	3	3			c.537G>C						3	SNP	c.(535-537)ATG>ATC	61	61			ovary(4)|skin(2)	6	Broad	pleckstrin homology-like domain, family B,			111603461		0.537	ENSG00000144824	11656	g.chr3:111603461G>C		cytoplasm|intermediate filament cytoskeleton|plasma membrane								-22.983673	KEEP	3	0	-1	69	64	3	0	-1	7.329676	69	64	0.024793	1	0	0	0	0	1	0	0	0	--	--		0	C			PHLDB2_uc003dyc.2_Missense_Mutation_p.M206I|PHLDB2_uc003dyd.2_Missense_Mutation_p.M179I|PHLDB2_uc003dyg.2_Missense_Mutation_p.M179I|PHLDB2_uc003dyh.2_Missense_Mutation_p.M179I|PHLDB2_uc003dye.3_Missense_Mutation_p.M179I|PHLDB2_uc003dyf.3_Missense_Mutation_p.M179I	210	GBM-28-2502-TP	p.M179I	G	TCCTGGCCATGTGGAATGGAA	NM_001134438	NP_001127910	111603461	Q86SQ0	PHLB2_HUMAN	0			2	948	+	C	C			Missense_Mutation	179						
PHLDB2	0	broad.mit.edu	GRCh37	3	111603533	111603533	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-76-4927-01	TCGA-76-4927-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393925.3:c.609A>C	p.Ser203=	p.S203=	ENST00000393925	NM_001134439.1	203	tcA/tcC	0			1			C	S	uc010hqa.2	protein_coding		CCDS46886.1			609/3762									ovary(4)|skin(2)	6	c.(607-609)TCA>TCC			hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF17	pleckstrin homology-like domain, family B,				ENSP00000377502		18-Feb									COSM3408117,COSM3408116,COSM3408115	18-Feb	.		ENST00000393925	Transcript				cytoplasm|intermediate filament cytoskeleton|plasma membrane		ENSG00000144824	g.chr3:111603533A>C	29573			LOW								--	--	1																																		PHLDB2_uc003dyc.2_Silent_p.S230S|PHLDB2_uc003dyd.2_Silent_p.S203S|PHLDB2_uc003dyg.2_Silent_p.S203S|PHLDB2_uc003dyh.2_Silent_p.S203S|PHLDB2_uc003dye.3_Silent_p.S203S|PHLDB2_uc003dyf.3_Silent_p.S203S	1,1,1				p.S203S	NM_001134438	NP_001127910			1,1,1	PHLB2_HUMAN	PHLDB2	HGNC	Q86SQ0	PHLB2_HUMAN			Q8NEI7_HUMAN,Q659D2_HUMAN		2	1020	+			UPI0000457152	203					SNV	PHLDB2,synonymous_variant,p.=,ENST00000431670,NM_001134438.1;PHLDB2,synonymous_variant,p.=,ENST00000412622,NM_145753.2;PHLDB2,synonymous_variant,p.=,ENST00000477695,;PHLDB2,synonymous_variant,p.=,ENST00000393923,NM_001134437.1;PHLDB2,synonymous_variant,p.=,ENST00000393925,NM_001134439.1;PHLDB2,synonymous_variant,p.=,ENST00000481953,;PHLDB2,synonymous_variant,p.=,ENST00000498699,;PHLDB2,synonymous_variant,p.=,ENST00000478922,;	uc010hqa.2	c.609A>C	706/5543	3	3			c.609A>C						3	SNP	c.(607-609)TCA>TCC	58	58			ovary(4)|skin(2)	6	Broad	pleckstrin homology-like domain, family B,			111603533		0.532	ENSG00000144824	11656	g.chr3:111603533A>C		cytoplasm|intermediate filament cytoskeleton|plasma membrane								54.244708	KEEP	11	12	-1	44	56	11	12	-1	63.2279	44	56	0.194175	1	0	0	0	0	0	0	1	0	--	--		0	C			PHLDB2_uc003dyc.2_Silent_p.S230S|PHLDB2_uc003dyd.2_Silent_p.S203S|PHLDB2_uc003dyg.2_Silent_p.S203S|PHLDB2_uc003dyh.2_Silent_p.S203S|PHLDB2_uc003dye.3_Silent_p.S203S|PHLDB2_uc003dyf.3_Silent_p.S203S	267	GBM-76-4927-TP	p.S203S	A	GCATGCCTTCAAGCCCAAAGC	NM_001134438	NP_001127910	111603533	Q86SQ0	PHLB2_HUMAN	0			2	1020	+	C	C			Silent	203						
PHLPP1	0	broad.mit.edu	GRCh37	18	60645528	60645528	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4926-01	TCGA-76-4926-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262719.5:c.4018C>T	p.Arg1340Cys	p.R1340C	ENST00000262719		1340	Cgc/Tgc	0			1			T	R/C	uc002lis.2	protein_coding	YES	CCDS45881.2			4018/5154										0	c.(2482-2484)CGC>TGC			Superfamily_domains:SSF81606,SMART_domains:SM00332,Gene3D:3.60.40.10,Pfam_domain:PF00481	PH domain and leucine rich repeat protein				ENSP00000262719		17/17									COSM3403604,COSM3403602,COSM3403603	17/17	.		ENST00000262719	Transcript			apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	ENSG00000081913	g.chr18:60645528C>T	20610			MODERATE		3.455	medium	getma.org/?cm=msa&ty=f&p=PHLP1_HUMAN&rb=1174&re=1415&var=R1340C	getma.org/pdb.php?prot=PHLP1_HUMAN&from=1174&to=1415&var=R1340C	getma.org/?cm=var&var=hg19,18,60645528,C,T&fts=all	R1340C	--	--	1																																			1,1,1	1		probably_damaging(0.997)	p.R828C	NM_194449	NP_919431		deleterious(0)	1,1,1	PHLP1_HUMAN	PHLPP1	HGNC	O60346	PHLP1_HUMAN					18	2660	+			UPI000051AE2E	1340			PP2C-like.		SNV	PHLPP1,missense_variant,p.Arg828Cys,ENST00000400316,NM_194449.3;PHLPP1,missense_variant,p.Arg1340Cys,ENST00000262719,;	uc002lis.2	c.2482C>T	4252/6390	1	1			c.2482C>T						18	SNP	c.(2482-2484)CGC>TGC	6	6				0	Broad	PH domain and leucine rich repeat protein			60645528		0.582	ENSG00000081913	11658	g.chr18:60645528C>T	apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity							35.836527	KEEP	9	6	-1	10	18	9	6	-1	36.416097	10	18	0.368421	1	0	0	0	0	1	0	0	0	--	--		0	T				266	GBM-76-4926-TP	p.R828C	C	TGAGTCCACGCGCATCCTGGG	NM_194449	NP_919431	60645528	O60346	PHLP1_HUMAN	0			18	2660	+	T	T			Missense_Mutation	1340			PP2C-like.			
PHLPP2	0	broad.mit.edu	GRCh37	16	71724459	71724459	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-12-3649-01	TCGA-12-3649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000568954.1:c.572C>G	p.Thr191Ser	p.T191S	ENST00000568954		191	aCt/aGt	0			1			C	T/S	uc002fax.2	protein_coding	YES	CCDS32479.1			572/3972									ovary(1)|central_nervous_system(1)	2	c.(571-573)ACT>AGT			Gene3D:2.30.29.30,Superfamily_domains:SSF50729	PH domain and leucine rich repeat protein				ENSP00000457991		19-Apr	8.24E-06					1.50E-05			rs757331662,COSM3402461,COSM3402462	19-Apr	.		ENST00000568954	Transcript				cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	ENSG00000040199	g.chr16:71724459G>C	29149			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=PHLP2_HUMAN&rb=150&re=248&var=T191S	NA	getma.org/?cm=var&var=hg19,16,71724459,G,C&fts=all	T191S	--	--	1																																		PHLPP2_uc010cgf.2_Missense_Mutation_p.T191S|PHLPP2_uc002fay.1_Missense_Mutation_p.T191S	0,1,1	1		benign(0.214)	p.T191S	NM_015020	NP_055835		tolerated(0.16)	0,1,1	PHLP2_HUMAN	PHLPP2	HGNC	Q6ZVD8	PHLP2_HUMAN					3	578	-			UPI0000229F5A	191			PH.		SNV	PHLPP2,missense_variant,p.Thr191Ser,ENST00000393524,;PHLPP2,missense_variant,p.Thr191Ser,ENST00000568954,;PHLPP2,missense_variant,p.Thr191Ser,ENST00000356272,NM_015020.2;PHLPP2,missense_variant,p.Thr226Ser,ENST00000567016,;PHLPP2,missense_variant,p.Thr191Ser,ENST00000360429,;PHLPP2,non_coding_transcript_exon_variant,,ENST00000538126,;	uc002fax.2	c.572C>G	951/8317	3	3			c.572C>G						16	SNP	c.(571-573)ACT>AGT	9	9			ovary(1)|central_nervous_system(1)	2	Broad	PH domain and leucine rich repeat protein			71724459		0.408	ENSG00000040199	11659	g.chr16:71724459G>C		cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity							18.508637	KEEP	5	10	-1	52	64	5	10	-1	36.671455	52	64	0.103448	1	0	0	0	0	1	0	0	0	--	--		0	C			PHLPP2_uc010cgf.2_Missense_Mutation_p.T191S|PHLPP2_uc002fay.1_Missense_Mutation_p.T191S	125	GBM-12-3649-TP	p.T191S	G	CATCTTTCCAGTTTGACAATC	NM_015020	NP_055835	71724459	Q6ZVD8	PHLP2_HUMAN	0			3	578	-	C	C			Missense_Mutation	191			PH.			
PHLPP2	0	broad.mit.edu	GRCh37	16	71689260	71689260	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01	TCGA-41-3392-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000568954.1:c.2468G>A	p.Arg823Gln	p.R823Q	ENST00000568954		823	cGa/cAa	0			1			T	R/Q	uc002fax.2	protein_coding	YES	CCDS32479.1			2468/3972									ovary(1)|central_nervous_system(1)	2	c.(2467-2469)CGA>CAA			Gene3D:3.60.40.10,hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF16,SMART_domains:SM00332,Superfamily_domains:SSF81606	PH domain and leucine rich repeat protein				ENSP00000457991		17/19	1.65E-05	9.61E-05	8.64E-05						rs752054132,COSM3402459,COSM3402460	17/19	.		ENST00000568954	Transcript				cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	ENSG00000040199	g.chr16:71689260C>T	29149			MODERATE		1.875	low	getma.org/?cm=msa&ty=f&p=PHLP2_HUMAN&rb=809&re=1026&var=R823Q	getma.org/pdb.php?prot=PHLP2_HUMAN&from=809&to=1026&var=R823Q	getma.org/?cm=var&var=hg19,16,71689260,C,T&fts=all	R823Q	--	--	1																																		PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Missense_Mutation_p.R756Q	0,1,1	1		possibly_damaging(0.623)	p.R823Q	NM_015020	NP_055835		deleterious(0.01)	0,1,1	PHLP2_HUMAN	PHLPP2	HGNC	Q6ZVD8	PHLP2_HUMAN					16	2474	-			UPI0000229F5A	823			PP2C-like.		SNV	PHLPP2,missense_variant,p.Arg756Gln,ENST00000393524,;PHLPP2,missense_variant,p.Arg823Gln,ENST00000568954,;PHLPP2,missense_variant,p.Arg823Gln,ENST00000356272,NM_015020.2;PHLPP2,missense_variant,p.Arg858Gln,ENST00000567016,;PHLPP2,missense_variant,p.Arg823Gln,ENST00000360429,;PHLPP2,missense_variant,p.Arg33Gln,ENST00000540628,;RP11-432I5.6,intron_variant,,ENST00000567077,;PHLPP2,missense_variant,p.Arg561Gln,ENST00000568004,;PHLPP2,missense_variant,p.Arg186Gln,ENST00000564884,;	uc002fax.2	c.2468G>A	2847/8317	2	2			c.2468G>A						16	SNP	c.(2467-2469)CGA>CAA	20	20			ovary(1)|central_nervous_system(1)	2	Broad	PH domain and leucine rich repeat protein			71689260		0.483	ENSG00000040199	11659	g.chr16:71689260C>T		cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity							357.444914	KEEP	56	71	-1	57	78	56	71	-1	357.476613	57	78	0.487288	1	0	0	0	0	1	0	0	0	--	--		0	T			PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Missense_Mutation_p.R756Q	254	GBM-41-3392-TP	p.R823Q	C	CTCCTCATTTCGGTCTCCATC	NM_015020	NP_055835	71689260	Q6ZVD8	PHLP2_HUMAN	0			16	2474	-	T	T			Missense_Mutation	823			PP2C-like.			
PHOSPHO2	0	broad.mit.edu	GRCh37	2	170558142	170558142	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-4929-01	TCGA-76-4929-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359744.3:c.661T>C	p.Ser221Pro	p.S221P	ENST00000359744	NM_001199286.1	221	Tct/Cct	0			1			C	S/P	uc002ufg.2	protein_coding	YES	CCDS33319.1			661/726									skin(1)	1	c.(661-663)TCT>CCT			hmmpanther:PTHR20889,hmmpanther:PTHR20889:SF1,Pfam_domain:PF06888,PIRSF_domain:PIRSF031051,Superfamily_domains:SSF56784	phosphatase, orphan 2				ENSP00000352782		4-Apr									COSM3407049	4-Apr	.		ENST00000359744	Transcript					metal ion binding|pyridoxal phosphatase activity	ENSG00000144362	g.chr2:170558142T>C	28316			MODERATE		2.395	medium	getma.org/?cm=msa&ty=f&p=PHOP2_HUMAN&rb=3&re=239&var=S221P	NA	getma.org/?cm=var&var=hg19,2,170558142,T,C&fts=all	S221P	--	--	1																																		KLHL23_uc002ufh.1_Intron	1	1		possibly_damaging(0.588)	p.S221P	NM_001008489	NP_001008489		deleterious(0.02)	1	PHOP2_HUMAN	PHOSPHO2	HGNC	Q8TCD6	PHOP2_HUMAN			C9JZQ7_HUMAN,C9JD35_HUMAN,C9J4G2_HUMAN		4	1049	+			UPI000006D7F5	221					SNV	PHOSPHO2,missense_variant,p.Ser221Pro,ENST00000359744,NM_001199286.1,NM_001008489.3,NM_001199285.1,NM_001199288.1;KLHL23,intron_variant,,ENST00000272797,NM_001199290.1;KLHL23,intron_variant,,ENST00000498202,;KLHL23,intron_variant,,ENST00000602521,;PHOSPHO2,downstream_gene_variant,,ENST00000438710,;PHOSPHO2,downstream_gene_variant,,ENST00000449906,NM_001199287.1;PHOSPHO2,downstream_gene_variant,,ENST00000438838,;PHOSPHO2,downstream_gene_variant,,ENST00000476919,;	uc002ufg.2	c.661T>C	1049/1125	3	3			c.661T>C						2	SNP	c.(661-663)TCT>CCT	62	62			skin(1)	1	Broad	phosphatase, orphan 2			170558142		0.308	ENSG00000144362	11661	g.chr2:170558142T>C			metal ion binding|pyridoxal phosphatase activity							271.146134	KEEP	35	46	-1	39	49	35	46	-1	271.196824	39	49	0.480519	1	0	0	0	0	1	0	0	0	--	--		0	C			KLHL23_uc002ufh.1_Intron	269	GBM-76-4929-TP	p.S221P	T	TATGGAATATTCTGTTGTAGT	NM_001008489	NP_001008489	170558142	Q8TCD6	PHOP2_HUMAN	0			4	1049	+	C	C			Missense_Mutation	221						
PHRF1	0	broad.mit.edu	GRCh37	11	607393	607393	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2499-01	TCGA-28-2499-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264555.5:c.1937C>T	p.Ala646Val	p.A646V	ENST00000264555	NM_020901.2	646	gCg/gTg	0			1			T	A/V	uc001lqe.2	protein_coding		CCDS65988.1			1937/4950										0	c.(1936-1938)GCG>GTG			hmmpanther:PTHR15242:SF1,hmmpanther:PTHR15242	PHD and ring finger domains 1				ENSP00000264555		14/18	1.65E-05		8.66E-05					6.06E-05	rs756569593,COSM543942,COSM543943	14/18	.		ENST00000264555	Transcript					RNA polymerase binding|zinc ion binding	ENSG00000070047	g.chr11:607393C>T	24351			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=PHRF1_HUMAN&rb=535&re=898&var=A646V	NA	getma.org/?cm=var&var=hg19,11,607393,C,T&fts=all	A646V	--	--	1																																		PHRF1_uc010qwc.1_Missense_Mutation_p.A645V|PHRF1_uc010qwd.1_Missense_Mutation_p.A644V|PHRF1_uc010qwe.1_Missense_Mutation_p.A642V|PHRF1_uc009ybz.1_Missense_Mutation_p.A436V|PHRF1_uc009yca.1_RNA	0,1,1			benign(0.382)	p.A646V	NM_020901	NP_065952		tolerated(0.06)	0,1,1	PHRF1_HUMAN	PHRF1	HGNC	Q9P1Y6	PHRF1_HUMAN					14	2068	+			UPI000041A715	646					SNV	PHRF1,missense_variant,p.Ala646Val,ENST00000264555,NM_020901.2,NM_001286581.1;PHRF1,missense_variant,p.Ala645Val,ENST00000416188,;PHRF1,missense_variant,p.Ala644Val,ENST00000413872,NM_001286582.1;PHRF1,missense_variant,p.Ala642Val,ENST00000533464,NM_001286583.1;PHRF1,missense_variant,p.Ala646Val,ENST00000534320,;PHRF1,downstream_gene_variant,,ENST00000532550,;	uc001lqe.2	c.1937C>T	2065/5523	2	2			c.1937C>T						11	SNP	c.(1936-1938)GCG>GTG	22	22				0	Broad	PHD and ring finger domains 1			607393		0.587	ENSG00000070047	11664	g.chr11:607393C>T			RNA polymerase binding|zinc ion binding							91.987914	KEEP	26	14	-1	51	67	26	14	-1	99.413547	51	67	0.262069	1	0	0	0	0	1	0	0	0	--	--		0	T			PHRF1_uc010qwc.1_Missense_Mutation_p.A645V|PHRF1_uc010qwd.1_Missense_Mutation_p.A644V|PHRF1_uc010qwe.1_Missense_Mutation_p.A642V|PHRF1_uc009ybz.1_Missense_Mutation_p.A436V|PHRF1_uc009yca.1_RNA	208	GBM-28-2499-TP	p.A646V	C	GCCTCTGCCGCGTCTAAGATC	NM_020901	NP_065952	607393	Q9P1Y6	PHRF1_HUMAN	0			14	2068	+	T	T			Missense_Mutation	646						
PHRF1	0	broad.mit.edu	GRCh37	11	607162	607162	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-41-2572-01	TCGA-41-2572-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264555.5:c.1706C>A	p.Pro569Gln	p.P569Q	ENST00000264555	NM_020901.2	569	cCg/cAg	0			1			A	P/Q	uc001lqe.2	protein_coding		CCDS65988.1			1706/4950										0	c.(1705-1707)CCG>CAG			hmmpanther:PTHR15242:SF1,hmmpanther:PTHR15242	PHD and ring finger domains 1				ENSP00000264555		14/18									COSM3747889,COSM3747888	14/18	.		ENST00000264555	Transcript					RNA polymerase binding|zinc ion binding	ENSG00000070047	g.chr11:607162C>A	24351			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=PHRF1_HUMAN&rb=535&re=898&var=P569Q	NA	getma.org/?cm=var&var=hg19,11,607162,C,A&fts=all	P569Q	--	--	1																																		PHRF1_uc010qwc.1_Missense_Mutation_p.P568Q|PHRF1_uc010qwd.1_Missense_Mutation_p.P567Q|PHRF1_uc010qwe.1_Missense_Mutation_p.P565Q|PHRF1_uc009ybz.1_Missense_Mutation_p.P359Q|PHRF1_uc009yca.1_RNA	1,1			benign(0.003)	p.P569Q	NM_020901	NP_065952		tolerated(0.14)	1,1	PHRF1_HUMAN	PHRF1	HGNC	Q9P1Y6	PHRF1_HUMAN					14	1837	+			UPI000041A715	569					SNV	PHRF1,missense_variant,p.Pro569Gln,ENST00000264555,NM_020901.2,NM_001286581.1;PHRF1,missense_variant,p.Pro568Gln,ENST00000416188,;PHRF1,missense_variant,p.Pro567Gln,ENST00000413872,NM_001286582.1;PHRF1,missense_variant,p.Pro565Gln,ENST00000533464,NM_001286583.1;PHRF1,missense_variant,p.Pro569Gln,ENST00000534320,;PHRF1,downstream_gene_variant,,ENST00000532550,;	uc001lqe.2	c.1706C>A	1834/5523	1	1			c.1706C>A						11	SNP	c.(1705-1707)CCG>CAG	50	50				0	Broad	PHD and ring finger domains 1			607162		0.662	ENSG00000070047	11664	g.chr11:607162C>A			RNA polymerase binding|zinc ion binding							-5.216298	KEEP	4	0	-1	38	22	4	0	-1	7.106317	38	22	0.051724	1	0	0	0	0	1	0	0	0	--	--		0	A			PHRF1_uc010qwc.1_Missense_Mutation_p.P568Q|PHRF1_uc010qwd.1_Missense_Mutation_p.P567Q|PHRF1_uc010qwe.1_Missense_Mutation_p.P565Q|PHRF1_uc009ybz.1_Missense_Mutation_p.P359Q|PHRF1_uc009yca.1_RNA	251	GBM-41-2572-TP	p.P569Q	C	TCCGGGAGCCCGGCCCAAGGC	NM_020901	NP_065952	607162	Q9P1Y6	PHRF1_HUMAN	0			14	1837	+	A	A			Missense_Mutation	569						
PHRF1	0	broad.mit.edu	GRCh37	11	608268	608268	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01	TCGA-41-2573-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264555.5:c.2812C>T	p.Pro938Ser	p.P938S	ENST00000264555	NM_020901.2	938	Cca/Tca	0			1			T	P/S	uc001lqe.2	protein_coding		CCDS65988.1			2812/4950										0	c.(2812-2814)CCA>TCA			hmmpanther:PTHR15242:SF1,hmmpanther:PTHR15242	PHD and ring finger domains 1				ENSP00000264555		14/18	8.32E-06					1.77E-05			rs772325349,COSM3397962,COSM3397961	14/18	.		ENST00000264555	Transcript					RNA polymerase binding|zinc ion binding	ENSG00000070047	g.chr11:608268C>T	24351			MODERATE		0.46	neutral	getma.org/?cm=msa&ty=f&p=PHRF1_HUMAN&rb=921&re=988&var=P938S	NA	getma.org/?cm=var&var=hg19,11,608268,C,T&fts=all	P938S	--	--	1																																		PHRF1_uc010qwc.1_Missense_Mutation_p.P937S|PHRF1_uc010qwd.1_Missense_Mutation_p.P936S|PHRF1_uc010qwe.1_Missense_Mutation_p.P934S|PHRF1_uc009ybz.1_Missense_Mutation_p.P728S|PHRF1_uc009yca.1_RNA	0,1,1			benign(0.007)	p.P938S	NM_020901	NP_065952		tolerated(0.6)	0,1,1	PHRF1_HUMAN	PHRF1	HGNC	Q9P1Y6	PHRF1_HUMAN					14	2943	+			UPI000041A715	938					SNV	PHRF1,missense_variant,p.Pro938Ser,ENST00000264555,NM_020901.2,NM_001286581.1;PHRF1,missense_variant,p.Pro937Ser,ENST00000416188,;PHRF1,missense_variant,p.Pro936Ser,ENST00000413872,NM_001286582.1;PHRF1,missense_variant,p.Pro934Ser,ENST00000533464,NM_001286583.1;IRF7,downstream_gene_variant,,ENST00000397566,NM_004031.2;IRF7,downstream_gene_variant,,ENST00000330243,;IRF7,downstream_gene_variant,,ENST00000397574,NM_001572.3;IRF7,downstream_gene_variant,,ENST00000397570,NM_004029.2;IRF7,downstream_gene_variant,,ENST00000348655,;IRF7,downstream_gene_variant,,ENST00000397562,;IRF7,downstream_gene_variant,,ENST00000525445,;PHRF1,missense_variant,p.Pro938Ser,ENST00000534320,;IRF7,downstream_gene_variant,,ENST00000533182,;IRF7,downstream_gene_variant,,ENST00000469048,;IRF7,downstream_gene_variant,,ENST00000532326,;IRF7,downstream_gene_variant,,ENST00000531912,;PHRF1,downstream_gene_variant,,ENST00000532550,;IRF7,downstream_gene_variant,,ENST00000528413,;	uc001lqe.2	c.2812C>T	2940/5523	2	2			c.2812C>T						11	SNP	c.(2812-2814)CCA>TCA	48	48				0	Broad	PHD and ring finger domains 1			608268		0.697	ENSG00000070047	11664	g.chr11:608268C>T			RNA polymerase binding|zinc ion binding							40.672703	KEEP	4	9	-1	8	7	4	9	-1	40.680819	8	7	0.481481	1	0	0	0	0	1	0	0	0	--	--		0	T			PHRF1_uc010qwc.1_Missense_Mutation_p.P937S|PHRF1_uc010qwd.1_Missense_Mutation_p.P936S|PHRF1_uc010qwe.1_Missense_Mutation_p.P934S|PHRF1_uc009ybz.1_Missense_Mutation_p.P728S|PHRF1_uc009yca.1_RNA	252	GBM-41-2573-TP	p.P938S	C	GCCATCCCCCCCAGAGCCCTG	NM_020901	NP_065952	608268	Q9P1Y6	PHRF1_HUMAN	0			14	2943	+	T	T			Missense_Mutation	938						
PHTF2	0	broad.mit.edu	GRCh37	7	77552026	77552026	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0616-01	TCGA-12-0616-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000248550.7:c.1050G>A	p.Val350=	p.V350=	ENST00000248550		350	gtG/gtA	0			1			A	V	uc003ugs.3	protein_coding					1050/2358									ovary(1)	1	c.(1048-1050)GTG>GTA			hmmpanther:PTHR12680,hmmpanther:PTHR12680:SF2	putative homeodomain transcription factor 2				ENSP00000248550		19-Oct									COSM2153578,COSM2153577	19-Oct	.		ENST00000248550	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	ENSG00000006576	g.chr7:77552026G>A	13411			LOW								--	--	1																																		PHTF2_uc003ugo.3_Silent_p.V312V|PHTF2_uc003ugp.2_Silent_p.V312V|PHTF2_uc003ugq.3_Silent_p.V312V|PHTF2_uc010ldv.2_Silent_p.V312V|PHTF2_uc003ugr.3_Silent_p.V316V|PHTF2_uc003ugt.3_Silent_p.V316V|PHTF2_uc003ugu.3_Silent_p.V312V|PHTF2_uc003ugv.2_Silent_p.V175V|PHTF2_uc010ldw.1_Silent_p.V175V	1,1				p.V350V	NM_001127357	NP_001120829			1,1	PHTF2_HUMAN	PHTF2	HGNC	Q8N3S3	PHTF2_HUMAN					10	1176	+			UPI00001408A6	350					SNV	PHTF2,synonymous_variant,p.=,ENST00000416283,NM_020432.4,NM_001127357.1;PHTF2,synonymous_variant,p.=,ENST00000307305,NM_001127358.1;PHTF2,synonymous_variant,p.=,ENST00000248550,;PHTF2,synonymous_variant,p.=,ENST00000275575,;PHTF2,synonymous_variant,p.=,ENST00000422959,;PHTF2,synonymous_variant,p.=,ENST00000450574,NM_001127359.1;PHTF2,synonymous_variant,p.=,ENST00000424760,;PHTF2,synonymous_variant,p.=,ENST00000415251,NM_001127360.1;PHTF2,non_coding_transcript_exon_variant,,ENST00000454592,;PHTF2,non_coding_transcript_exon_variant,,ENST00000479515,;PHTF2,non_coding_transcript_exon_variant,,ENST00000468351,;	uc003ugs.3	c.1050G>A	1126/4778	1	1			c.1050G>A						7	SNP	c.(1048-1050)GTG>GTA	55	55			ovary(1)	1	Broad	putative homeodomain transcription factor 2			77552026		0.398	ENSG00000006576	11666	g.chr7:77552026G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding							69.368792	KEEP	8	13	-1	16	11	8	13	-1	69.484755	16	11	0.446809	1	0	0	0	0	0	0	1	0	--	--		0	A			PHTF2_uc003ugo.3_Silent_p.V312V|PHTF2_uc003ugp.2_Silent_p.V312V|PHTF2_uc003ugq.3_Silent_p.V312V|PHTF2_uc010ldv.2_Silent_p.V312V|PHTF2_uc003ugr.3_Silent_p.V316V|PHTF2_uc003ugt.3_Silent_p.V316V|PHTF2_uc003ugu.3_Silent_p.V312V|PHTF2_uc003ugv.2_Silent_p.V175V|PHTF2_uc010ldw.1_Silent_p.V175V	118	GBM-12-0616-TP	p.V350V	G	GTCGTCATGTGGACAGGACTT	NM_001127357	NP_001120829	77552026	Q8N3S3	PHTF2_HUMAN	0			10	1176	+	A	A			Silent	350						
PHYKPL	0	broad.mit.edu	GRCh37	5	177649920	177649920	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs142142484	byFrequency	TCGA-32-4209-01	TCGA-32-4209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308158.5:c.634G>A	p.Ala212Thr	p.A212T	ENST00000308158	NM_001278346.1	212	Gct/Act	0	T:0.007	T:0.0174	1	T:0		T	A/T	uc003miz.2	protein_coding	YES	CCDS4434.1			634/1353									pancreas(1)	1	c.(634-636)GCT>ACT			Gene3D:3.40.640.10,Pfam_domain:PF00202,PIRSF_domain:PIRSF000521,hmmpanther:PTHR11986,hmmpanther:PTHR11986:SF52,Superfamily_domains:SSF53383	alanine-glyoxylate aminotransferase 2-like 2	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	T:0	T:0	ENSP00000310978	T:0	13-Jul	0.000848	0.00829	0.0014			4.55E-05			rs142142484,COSM3410172,COSM3410173	13-Jul	common_variant		ENST00000308158	Transcript	1	T:0.0046		mitochondrion	pyridoxal phosphate binding|transaminase activity	ENSG00000175309	g.chr5:177649920C>T	28249			MODERATE		2.75	medium	getma.org/?cm=msa&ty=f&p=AT2L2_HUMAN&rb=33&re=373&var=A212T	getma.org/pdb.php?prot=AT2L2_HUMAN&from=33&to=373&var=A212T	getma.org/?cm=var&var=hg19,5,177649920,C,T&fts=all	A212T	--	--	1																																		AGXT2L2_uc003miy.2_5'UTR|AGXT2L2_uc003mjc.2_Missense_Mutation_p.A171T|AGXT2L2_uc003mja.2_RNA|AGXT2L2_uc003mjb.2_5'UTR|AGXT2L2_uc003mjd.1_Missense_Mutation_p.A70T	0,1,1	1		benign(0.273)	p.A212T	NM_153373	NP_699204	T:0	deleterious(0.01)	0,1,1	AT2L2_HUMAN	PHYKPL	HGNC	Q8IUZ5	AT2L2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235)	H0YAK5_HUMAN		7	886	-	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	UPI00000746D3	212					SNV	PHYKPL,missense_variant,p.Ala212Thr,ENST00000308158,NM_001278346.1,NM_153373.3;PHYKPL,downstream_gene_variant,,ENST00000323594,;PHYKPL,intron_variant,,ENST00000481811,;PHYKPL,downstream_gene_variant,,ENST00000511716,;PHYKPL,missense_variant,p.Ala6Thr,ENST00000506045,;PHYKPL,3_prime_UTR_variant,,ENST00000493197,;PHYKPL,3_prime_UTR_variant,,ENST00000474052,;PHYKPL,3_prime_UTR_variant,,ENST00000510913,;PHYKPL,non_coding_transcript_exon_variant,,ENST00000489262,;PHYKPL,non_coding_transcript_exon_variant,,ENST00000494126,;PHYKPL,non_coding_transcript_exon_variant,,ENST00000476487,;PHYKPL,non_coding_transcript_exon_variant,,ENST00000481436,;PHYKPL,intron_variant,,ENST00000510991,;PHYKPL,upstream_gene_variant,,ENST00000393488,;PHYKPL,downstream_gene_variant,,ENST00000504096,;PHYKPL,downstream_gene_variant,,ENST00000514424,;PHYKPL,downstream_gene_variant,,ENST00000506001,;	uc003miz.2	c.634G>A	869/2038	2	2			c.634G>A						5	SNP	c.(634-636)GCT>ACT	18	18			pancreas(1)	1	Broad	alanine-glyoxylate aminotransferase 2-like 2		L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	177649920		0.587	ENSG00000175309	403	g.chr5:177649920C>T		mitochondrion	pyridoxal phosphate binding|transaminase activity							71.302443	KEEP	9	22	-1	43	38	9	22	-1	75.578267	43	38	0.278351	1	0	0	0	0	1	0	0	0	--	--		0	T			AGXT2L2_uc003miy.2_5'UTR|AGXT2L2_uc003mjc.2_Missense_Mutation_p.A171T|AGXT2L2_uc003mja.2_RNA|AGXT2L2_uc003mjb.2_5'UTR|AGXT2L2_uc003mjd.1_Missense_Mutation_p.A70T	244	GBM-32-4209-TP	p.A212T	C	AGAGACTCAGCGAAGAAGGCT	NM_153373	NP_699204	177649920	Q8IUZ5	AT2L2_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235)	7	886	-	T	T	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Missense_Mutation	212						
PI4K2A	0	broad.mit.edu	GRCh37	10	99426254	99426254	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-28-5209-01	TCGA-28-5209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370631.3:c.1144G>T	p.Asp382Tyr	p.D382Y	ENST00000370631	NM_018425.2	382	Gat/Tat	0			1			T	D/Y	uc001kog.1	protein_coding	YES	CCDS7469.1			1144/1440									lung(1)|skin(1)	2	c.(1144-1146)GAT>TAT			Pfam_domain:PF00454,hmmpanther:PTHR12865,hmmpanther:PTHR12865:SF4	phosphatidylinositol 4-kinase type 2 alpha				ENSP00000359665		9-Jul									COSM3397336,COSM3397337	9-Jul	.		ENST00000370631	Transcript			phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding	ENSG00000155252	g.chr10:99426254G>T	30031			MODERATE		2.845	medium	getma.org/?cm=msa&ty=f&p=P4K2A_HUMAN&rb=133&re=438&var=D382Y	NA	getma.org/?cm=var&var=hg19,10,99426254,G,T&fts=all	D382Y	--	--	1																																		PI4K2A_uc010qoy.1_Missense_Mutation_p.D352Y|PI4K2A_uc009xvw.1_Intron	1,1	1		probably_damaging(0.934)	p.D382Y	NM_018425	NP_060895		deleterious(0)	1,1	P4K2A_HUMAN	PI4K2A	HGNC	Q9BTU6	P4K2A_HUMAN		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)			7	1201	+		Colorectal(252;0.162)	UPI0000071D95	382			PI3K/PI4K.		SNV	PI4K2A,missense_variant,p.Asp382Tyr,ENST00000370631,NM_018425.2;PI4K2A,missense_variant,p.Asp352Tyr,ENST00000370649,;PI4K2A,missense_variant,p.Asp352Tyr,ENST00000555577,;	uc001kog.1	c.1144G>T	1201/4189	2	2			c.1144G>T						10	SNP	c.(1144-1146)GAT>TAT	30	30			lung(1)|skin(1)	2	Broad	phosphatidylinositol 4-kinase type 2 alpha			99426254		0.468	ENSG00000155252	11674	g.chr10:99426254G>T	phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			218			218	204.068568	KEEP	27	40	0.402985075	4	5	27	40	0.402985075	213.955433	4	5	0.875	1	0	0	0	0	1	0	0	0	--	--		0	T			PI4K2A_uc010qoy.1_Missense_Mutation_p.D352Y|PI4K2A_uc009xvw.1_Intron	218	GBM-28-5209-TP	p.D382Y	G	GGAGATCAAAGATCTGATCCT	NM_018425	NP_060895	99426254	Q9BTU6	P4K2A_HUMAN	0		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)	7	1201	+	T	T		Colorectal(252;0.162)	Missense_Mutation	382			PI3K/PI4K.			
PI4KB	0	broad.mit.edu	GRCh37	1	151271347	151271347	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01	TCGA-28-5208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368873.1:c.1952G>A	p.Arg651His	p.R651H	ENST00000368873		651	cGc/cAc	0			1			T	R/H	uc001ext.2	protein_coding					1952/2451									ovary(2)|skin(2)	4	c.(1951-1953)CGC>CAC			Gene3D:1.10.1070.11,Pfam_domain:PF00454,PROSITE_profiles:PS50290,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF22,SMART_domains:SM00146,Superfamily_domains:SSF56112	catalytic phosphatidylinositol 4-kinase beta				ENSP00000357867		12-Sep									COSM895766	12-Sep	.		ENST00000368873	Transcript			phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	ENSG00000143393	g.chr1:151271347C>T	8984			MODERATE		2.05	medium	getma.org/?cm=msa&ty=f&p=PI4KB_HUMAN&rb=558&re=763&var=R651H	getma.org/pdb.php?prot=PI4KB_HUMAN&from=558&to=763&var=R651H	getma.org/?cm=var&var=hg19,1,151271347,C,T&fts=all	R651H	--	--	1																																		PI4KB_uc001exr.2_Missense_Mutation_p.R663H|PI4KB_uc001exs.2_Missense_Mutation_p.R636H|PI4KB_uc001exu.2_Missense_Mutation_p.R636H|PI4KB_uc010pcw.1_Missense_Mutation_p.R319H	1			possibly_damaging(0.763)	p.R651H	NM_002651	NP_002642		deleterious(0)	1	PI4KB_HUMAN	PI4KB	HGNC	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		F8W860_HUMAN,E9PL47_HUMAN,E9PIH4_HUMAN		9	2367	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UPI0000040634	651			PI3K/PI4K.		SNV	PI4KB,missense_variant,p.Arg663His,ENST00000368875,NM_002651.2;PI4KB,missense_variant,p.Arg636His,ENST00000368874,NM_001198774.1;PI4KB,missense_variant,p.Arg663His,ENST00000271657,;PI4KB,missense_variant,p.Arg651His,ENST00000368873,;PI4KB,missense_variant,p.Arg636His,ENST00000368872,NM_001198773.1;PI4KB,missense_variant,p.Arg319His,ENST00000529142,NM_001198775.1;PI4KB,missense_variant,p.Arg41His,ENST00000455060,;PI4KB,missense_variant,p.Arg55His,ENST00000489889,;PI4KB,downstream_gene_variant,,ENST00000430800,;PI4KB,upstream_gene_variant,,ENST00000446339,;RN7SL444P,downstream_gene_variant,,ENST00000578948,;PI4KB,non_coding_transcript_exon_variant,,ENST00000469239,;PI4KB,downstream_gene_variant,,ENST00000460323,;	uc001ext.2	c.1952G>A	2121/3340	2	2			c.1952G>A						1	SNP	c.(1951-1953)CGC>CAC	28	28			ovary(2)|skin(2)	4	Broad	catalytic phosphatidylinositol 4-kinase beta			151271347		0.502	ENSG00000143393	11677	g.chr1:151271347C>T	phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	Colon(154;765 1838 9854 28443 37492)		342	Colon(154;765 1838 9854 28443 37492)		342	679.169246	KEEP	112	130	-1	141	172	112	130	-1	681.025737	141	172	0.436433	1	0	0	0	0	1	0	0	0	--	--		0	T			PI4KB_uc001exr.2_Missense_Mutation_p.R663H|PI4KB_uc001exs.2_Missense_Mutation_p.R636H|PI4KB_uc001exu.2_Missense_Mutation_p.R636H|PI4KB_uc010pcw.1_Missense_Mutation_p.R319H	217	GBM-28-5208-TP	p.R651H	C	CACAAAATTGCGCTGTGCACT	NM_002651	NP_002642	151271347	Q9UBF8	PI4KB_HUMAN	0	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		9	2367	-	T	T	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		Missense_Mutation	651			PI3K/PI4K.			
PI4KB	5298		GRCh37	1	151265387	151265387	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0151-01	TCGA-06-0151-01																				ENST00000368875.2:c.2428C>T	p.Arg810Trp	p.R810W	ENST00000368875	NM_002651.2	810	Cgg/Tgg	0																																																																																																																																																																																																																																												
PIAS1	8554	broad.mit.edu	GRCh37	15	68468841	68468841	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0644-01	TCGA-06-0644-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000249636.6:c.1330G>T	p.Val444Leu	p.V444L	ENST00000249636	NM_016166.1	444	Gta/Tta	0			1			T	V/L	uc002aqz.2	protein_coding	YES	CCDS45290.1			1330/1956									ovary(1)|lung(1)	2	c.(1330-1332)GTA>TTA			hmmpanther:PTHR10782,hmmpanther:PTHR10782:SF11	protein inhibitor of activated STAT, 1				ENSP00000249636		14-Nov									COSM2151240	14-Nov	.		ENST00000249636	Transcript			androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	ENSG00000033800	g.chr15:68468841G>T	2752			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=PIAS1_HUMAN&rb=381&re=580&var=V444L	NA	getma.org/?cm=var&var=hg19,15,68468841,G,T&fts=all	V444L	--	--	1																																		PIAS1_uc002ara.2_Missense_Mutation_p.V52L	1	1		benign(0)	p.V444L	NM_016166	NP_057250		tolerated(0.75)	1	PIAS1_HUMAN	PIAS1	HGNC	O75925	PIAS1_HUMAN			Q1XBU8_HUMAN		11	1426	+			UPI0000131A8C	444					SNV	PIAS1,missense_variant,p.Val446Leu,ENST00000545237,;PIAS1,missense_variant,p.Val444Leu,ENST00000249636,NM_016166.1;PIAS1,upstream_gene_variant,,ENST00000567417,;PIAS1,upstream_gene_variant,,ENST00000563996,;	uc002aqz.2	c.1330G>T	1478/2333	2	2			c.1330G>T						15	SNP	c.(1330-1332)GTA>TTA	45	45			ovary(1)|lung(1)	2	Broad	protein inhibitor of activated STAT, 1			68468841		0.423	ENSG00000033800	11678	g.chr15:68468841G>T	androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding							132.136525	KEEP	32	22	0.592592593	62	80	32	22	0.592592593	139.839731	62	80	0.277457	1	0	0	0	0	1	0	0	0	--	--		0	T			PIAS1_uc002ara.2_Missense_Mutation_p.V52L	58	GBM-06-0644-TP	p.V444L	G	GGAGCATCAGGTAGCGTCTCA	NM_016166	NP_057250	68468841	O75925	PIAS1_HUMAN	0			11	1426	+	T	T			Missense_Mutation	444						
PIAS3	10401	broad.mit.edu	GRCh37	1	145584562	145584562	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01	TCGA-06-0743-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393045.2:c.1529G>A	p.Ser510Asn	p.S510N	ENST00000393045	NM_006099.3	510	aGt/aAt	0			1			A	S/N	uc001eoc.1	protein_coding	YES	CCDS920.2			1529/1887									ovary(1)	1	c.(1528-1530)AGT>AAT			hmmpanther:PTHR10782,hmmpanther:PTHR10782:SF10	protein inhibitor of activated STAT, 3				ENSP00000376765		14-Dec									COSM3399671,COSM3399670	14-Dec	.		ENST00000393045	Transcript			positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	ENSG00000131788	g.chr1:145584562G>A	16861			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=PIAS3_HUMAN&rb=373&re=572&var=S510N	NA	getma.org/?cm=var&var=hg19,1,145584562,G,A&fts=all	S510N	--	--	1																																		NBPF10_uc001emp.3_Intron|PIAS3_uc001eod.1_Missense_Mutation_p.S179N	1,1	1		benign(0.131)	p.S510N	NM_006099	NP_006090		tolerated(0.16)	1,1	PIAS3_HUMAN	PIAS3	HGNC	Q9Y6X2	PIAS3_HUMAN			Q6IAR4_HUMAN,E7ESB4_HUMAN,A4CZ08_HUMAN		12	1620	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		UPI0000150636	510					SNV	PIAS3,missense_variant,p.Ser510Asn,ENST00000393045,NM_006099.3;PIAS3,missense_variant,p.Ser475Asn,ENST00000369298,;NUDT17,downstream_gene_variant,,ENST00000334513,NM_001012758.2;PIAS3,downstream_gene_variant,,ENST00000369299,;PIAS3,downstream_gene_variant,,ENST00000393046,;NUDT17,downstream_gene_variant,,ENST00000444015,;PIAS3,non_coding_transcript_exon_variant,,ENST00000475261,;PIAS3,non_coding_transcript_exon_variant,,ENST00000472114,;NUDT17,downstream_gene_variant,,ENST00000477878,;NUDT17,downstream_gene_variant,,ENST00000498192,;PIAS3,downstream_gene_variant,,ENST00000498436,;NUDT17,downstream_gene_variant,,ENST00000460879,;	uc001eoc.1	c.1529G>A	1619/2901	2	2			c.1529G>A						1	SNP	c.(1528-1530)AGT>AAT	35	35			ovary(1)	1	Broad	protein inhibitor of activated STAT, 3			145584562		0.592	ENSG00000131788	11680	g.chr1:145584562G>A	positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding							166.38744	KEEP	29	35	-1	59	98	29	35	-1	173.756819	59	98	0.29902	1	0	0	0	0	1	0	0	0	--	--		0	A			NBPF10_uc001emp.3_Intron|PIAS3_uc001eod.1_Missense_Mutation_p.S179N	65	GBM-06-0743-TP	p.S510N	G	TTCCTGTCCAGTCTCCCACTA	NM_006099	NP_006090	145584562	Q9Y6X2	PIAS3_HUMAN	0			12	1620	+	A	A	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Missense_Mutation	510						
PIAS4	51588	broad.mit.edu	GRCh37	19	4012940	4012940	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01	TCGA-06-0158-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262971.2:c.47G>A	p.Arg16Gln	p.R16Q	ENST00000262971	NM_015897.2	16	cGa/cAa	0			1			A	R/Q	uc002lzg.2	protein_coding	YES	CCDS12118.1			47/1533									pancreas(1)	1	c.(46-48)CGA>CAA			PROSITE_profiles:PS50800,hmmpanther:PTHR10782,Gene3D:1.10.720.30,SMART_domains:SM00513,Superfamily_domains:SSF68906	protein inhibitor of activated STAT, 4				ENSP00000262971		11-Feb									COSM3404223	11-Feb	.		ENST00000262971	Transcript			positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000105229	g.chr19:4012940G>A	17002			MODERATE		1.815	low	getma.org/?cm=msa&ty=f&p=PIAS4_HUMAN&rb=12&re=46&var=R16Q	getma.org/pdb.php?prot=PIAS4_HUMAN&from=12&to=46&var=R16Q	getma.org/?cm=var&var=hg19,19,4012940,G,A&fts=all	R16Q	--	--	1																																			1	1		probably_damaging(0.997)	p.R16Q	NM_015897	NP_056981		deleterious(0)	1	PIAS4_HUMAN	PIAS4	HGNC	Q8N2W9	PIAS4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	Q05DS6_HUMAN		2	57	+			UPI0000073C15	16			SAP.		SNV	PIAS4,missense_variant,p.Arg16Gln,ENST00000262971,NM_015897.2;PIAS4,non_coding_transcript_exon_variant,,ENST00000599999,;PIAS4,non_coding_transcript_exon_variant,,ENST00000593518,;PIAS4,non_coding_transcript_exon_variant,,ENST00000600566,;	uc002lzg.2	c.47G>A	162/3159	2	2			c.47G>A						19	SNP	c.(46-48)CGA>CAA	22	22			pancreas(1)	1	Broad	protein inhibitor of activated STAT, 4			4012940		0.597	ENSG00000105229	11681	g.chr19:4012940G>A	positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding							-56.227855	KEEP	10	9	-1	219	219	10	9	-1	31.321411	219	219	0.041344	1	0	0	0	0	1	0	0	0	--	--		0	A				29	GBM-06-0158-TP	p.R16Q	G	ATGAGTTTTCGAGTCTCCGAC	NM_015897	NP_056981	4012940	Q8N2W9	PIAS4_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	2	57	+	A	A			Missense_Mutation	16			SAP.			
PIAS4	51588	broad.mit.edu	GRCh37	19	4029001	4029001	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-01	TCGA-06-0190-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262971.2:c.874G>A	p.Gly292Arg	p.G292R	ENST00000262971	NM_015897.2	292	Ggg/Agg	0			1			A	G/R	uc002lzg.2	protein_coding	YES	CCDS12118.1			874/1533									pancreas(1)	1	c.(874-876)GGG>AGG			hmmpanther:PTHR10782	protein inhibitor of activated STAT, 4				ENSP00000262971		11-Jul									COSM3404224	11-Jul	.		ENST00000262971	Transcript			positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000105229	g.chr19:4029001G>A	17002			MODERATE		1.415	low	getma.org/?cm=msa&ty=f&p=PIAS4_HUMAN&rb=278&re=321&var=G292R	NA	getma.org/?cm=var&var=hg19,19,4029001,G,A&fts=all	G292R	--	--	1																																			1	1		probably_damaging(0.974)	p.G292R	NM_015897	NP_056981		deleterious(0)	1	PIAS4_HUMAN	PIAS4	HGNC	Q8N2W9	PIAS4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	Q05DS6_HUMAN		7	884	+			UPI0000073C15	292					SNV	PIAS4,missense_variant,p.Gly292Arg,ENST00000262971,NM_015897.2;PIAS4,downstream_gene_variant,,ENST00000596144,;PIAS4,downstream_gene_variant,,ENST00000599999,;PIAS4,downstream_gene_variant,,ENST00000600566,;PIAS4,downstream_gene_variant,,ENST00000601439,;	uc002lzg.2	c.874G>A	989/3159	2	2			c.874G>A						19	SNP	c.(874-876)GGG>AGG	26	26			pancreas(1)	1	Broad	protein inhibitor of activated STAT, 4			4029001		0.652	ENSG00000105229	11681	g.chr19:4029001G>A	positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding							14.83219	KEEP	2	4	-1	10	11	2	4	-1	16.201678	10	11	0.25	1	0	0	0	0	1	0	0	0	--	--		0	A				43	GBM-06-0190-TP	p.G292R	G	GAAGACCATTGGGGTAAAGCA	NM_015897	NP_056981	4029001	Q8N2W9	PIAS4_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	7	884	+	A	A			Missense_Mutation	292						
PIBF1	10464		GRCh37	13	73372127	73372127	+	stop_gained	Nonsense_Mutation	SNP	T	T	A			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000326291.6:c.635T>A	p.Leu212Ter	p.L212*	ENST00000326291	NM_006346.2	212	tTa/tAa	0																																																																																																																																																																																																																																												
PICALM	8301	broad.mit.edu	GRCh37	11	85733503	85733503	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-02-0055-01	TCGA-02-0055-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393346.3:c.359T>A	p.Met120Lys	p.M120K	ENST00000393346		120	aTg/aAg	0			1			T	M/K	uc001pbm.2	protein_coding	YES	CCDS8272.1			359/1959	T		MLLT10|MLL		TALL|AML|				urinary_tract(1)|ovary(1)	2	c.(358-360)ATG>AAG			PROSITE_profiles:PS50942,hmmpanther:PTHR22951:SF16,hmmpanther:PTHR22951,Pfam_domain:PF07651,Gene3D:1.25.40.90,SMART_domains:SM00273,Superfamily_domains:SSF48464	phosphatidylinositol-binding clathrin assembly				ENSP00000377015		20-Apr									COSM2149038,COSM2149039	20-Apr	.		ENST00000393346	Transcript	1		clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding	ENSG00000073921	g.chr11:85733503A>T	15514			MODERATE		2.185	medium	getma.org/?cm=msa&ty=f&p=PICAL_HUMAN&rb=19&re=285&var=M120K	getma.org/pdb.php?prot=PICAL_HUMAN&from=19&to=285&var=M120K	getma.org/?cm=var&var=hg19,11,85733503,A,T&fts=all	M120K	--	--	1																																		PICALM_uc001pbl.2_Missense_Mutation_p.M120K|PICALM_uc001pbn.2_Missense_Mutation_p.M120K|PICALM_uc010rtl.1_Missense_Mutation_p.M69K	1,1	1		probably_damaging(0.995)	p.M120K	NM_007166	NP_009097		deleterious(0.03)	1,1	PICAL_HUMAN	PICALM	HGNC	Q13492	PICAL_HUMAN			E9PLJ8_HUMAN,E9PKP6_HUMAN,E9PI56_HUMAN		4	645	-		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)	UPI00001AE879	120			ENTH.		SNV	PICALM,missense_variant,p.Met120Lys,ENST00000526033,NM_007166.3,NM_001206946.1;PICALM,missense_variant,p.Met120Lys,ENST00000532317,NM_001008660.2;PICALM,missense_variant,p.Met120Lys,ENST00000393346,;PICALM,missense_variant,p.Met69Lys,ENST00000528398,NM_001206947.1;PICALM,missense_variant,p.Met120Lys,ENST00000356360,;PICALM,missense_variant,p.Met86Lys,ENST00000531930,;PICALM,missense_variant,p.Met86Lys,ENST00000528256,;PICALM,missense_variant,p.Met69Lys,ENST00000525162,;PICALM,non_coding_transcript_exon_variant,,ENST00000528411,;PICALM,missense_variant,p.Cys95Ser,ENST00000532041,;PICALM,non_coding_transcript_exon_variant,,ENST00000531771,;PICALM,intron_variant,,ENST00000534412,;PICALM,intron_variant,,ENST00000531558,;	uc001pbm.2	c.359T>A	508/2340	1	1			c.359T>A	T		MLLT10|MLL		TALL|AML|	11	SNP	c.(358-360)ATG>AAG	8	8			urinary_tract(1)|ovary(1)	2	Broad	phosphatidylinositol-binding clathrin assembly			85733503		0.289	ENSG00000073921	11683	g.chr11:85733503A>T	clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			415			415	108.864906	KEEP	19	18	-1	41	36	19	18	-1	112.034633	41	36	0.321429	1	0	0	0	0	1	0	0	0	--	--		0	T			PICALM_uc001pbl.2_Missense_Mutation_p.M120K|PICALM_uc001pbn.2_Missense_Mutation_p.M120K|PICALM_uc010rtl.1_Missense_Mutation_p.M69K	4	GBM-02-0055-TP	p.M120K	A	AAATGTAGACATGTCATATCC	NM_007166	NP_009097	85733503	Q13492	PICAL_HUMAN	0			4	645	-	T	T		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)	Missense_Mutation	120			ENTH.			
PICK1	0	broad.mit.edu	GRCh37	22	38471061	38471061	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5220-01	TCGA-28-5220-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356976.3:c.1170G>A	p.Thr390=	p.T390=	ENST00000356976	NM_012407.3	390	acG/acA	0			1			A	T	uc003auq.2	protein_coding		CCDS13965.1			1170/1248										0	c.(1168-1170)ACG>ACA			Low_complexity_(Seg):seg,hmmpanther:PTHR12141,hmmpanther:PTHR12141:SF2	protein interacting with C kinase 1				ENSP00000349465		13/13									COSM3405666	13/13	.		ENST00000356976	Transcript			activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding	ENSG00000100151	g.chr22:38471061G>A	9394			LOW								--	--	1																																		PICK1_uc003aur.2_Silent_p.T390T|PICK1_uc003aus.2_Silent_p.T390T|PICK1_uc003aut.2_Silent_p.T390T	1				p.T390T	NM_012407	NP_036539			1	PICK1_HUMAN	PICK1	HGNC	Q9NRD5	PICK1_HUMAN			F6VY12_HUMAN,F6V107_HUMAN,F6TII1_HUMAN		13	1560	+	Melanoma(58;0.045)		UPI0000131A98	390					SNV	PICK1,synonymous_variant,p.=,ENST00000404072,NM_001039583.1,NM_001039584.1;PICK1,synonymous_variant,p.=,ENST00000356976,NM_012407.3;SLC16A8,downstream_gene_variant,,ENST00000320521,NM_013356.2;PICK1,downstream_gene_variant,,ENST00000424694,;RP5-1039K5.13,upstream_gene_variant,,ENST00000445483,;SLC16A8,downstream_gene_variant,,ENST00000469516,;PICK1,downstream_gene_variant,,ENST00000468288,;PICK1,non_coding_transcript_exon_variant,,ENST00000484021,;PICK1,downstream_gene_variant,,ENST00000432756,;PICK1,downstream_gene_variant,,ENST00000494434,;PICK1,downstream_gene_variant,,ENST00000426258,;PICK1,downstream_gene_variant,,ENST00000472724,;	uc003auq.2	c.1170G>A	1408/2055	1	1			c.1170G>A						22	SNP	c.(1168-1170)ACG>ACA	61	61				0	Broad	protein interacting with C kinase 1			38471061		0.567	ENSG00000100151	11684	g.chr22:38471061G>A	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding							74.594035	KEEP	13	13	-1	23	20	13	13	-1	74.696673	23	20	0.45283	1	0	0	0	0	0	0	1	0	--	--		0	A			PICK1_uc003aur.2_Silent_p.T390T|PICK1_uc003aus.2_Silent_p.T390T|PICK1_uc003aut.2_Silent_p.T390T	226	GBM-28-5220-TP	p.T390T	G	aggaagaCACGGCAGCTGGGG	NM_012407	NP_036539	38471061	Q9NRD5	PICK1_HUMAN	0			13	1560	+	A	A	Melanoma(58;0.045)		Silent	390						
PID1	55022		GRCh37	2	229890703	229890703	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000392054.3:c.392A>G	p.Asn131Ser	p.N131S	ENST00000392054	NM_017933.4	131	aAt/aGt	0																																																																																																																																																																																																																																												
PIDD	0	broad.mit.edu	GRCh37	11	800589	800589	+	synonymous_variant	Silent	SNP	G	G	A	rs151136652		TCGA-06-0122-01	TCGA-06-0122-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000347755.5:c.1995C>T	p.Gly665=	p.G665=	ENST00000347755	NM_145886.3	665	ggC/ggT	0	A:0		1			A	G	uc001lro.1	protein_coding	YES	CCDS7716.1			1995/2733										0	c.(1993-1995)GGC>GGT			Low_complexity_(Seg):seg	leucine rich repeat and death domain containing			A:0.0001	ENSP00000337797		16-Dec	5.79E-05					0.000117			rs151136652,COSM2149190,COSM2149189	16-Dec	.		ENST00000347755	Transcript			apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	ENSG00000177595	g.chr11:800589G>A	16491			LOW								--	--	1																																		SLC25A22_uc009yci.2_5'Flank|SLC25A22_uc001lrj.2_5'Flank|LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Silent_p.G665G|LRDD_uc001lrl.1_Silent_p.G508G|LRDD_uc001lrm.1_Silent_p.G352G|LRDD_uc001lrn.1_Silent_p.G508G|LRDD_uc001lrp.1_Silent_p.G327G	0,1,1	1			p.G665G	NM_145886	NP_665893			0,1,1	PIDD_HUMAN	PIDD	HGNC	Q9HB75	PIDD_HUMAN		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)			12	2137	-		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	UPI000045644A	665					SNV	PIDD,synonymous_variant,p.=,ENST00000347755,NM_145886.3,NM_145887.3;PIDD,synonymous_variant,p.=,ENST00000411829,;SLC25A22,upstream_gene_variant,,ENST00000320230,NM_024698.5,NM_001191061.1;SLC25A22,upstream_gene_variant,,ENST00000531214,NM_001191060.1;SLC25A22,upstream_gene_variant,,ENST00000531437,;SLC25A22,upstream_gene_variant,,ENST00000531514,;SLC25A22,upstream_gene_variant,,ENST00000531534,;SLC25A22,upstream_gene_variant,,ENST00000532484,;SLC25A22,upstream_gene_variant,,ENST00000528606,;SLC25A22,upstream_gene_variant,,ENST00000529066,;SLC25A22,upstream_gene_variant,,ENST00000530360,;PIDD,intron_variant,,ENST00000527812,;PIDD,downstream_gene_variant,,ENST00000534649,;PIDD,downstream_gene_variant,,ENST00000528122,;PIDD,3_prime_UTR_variant,,ENST00000524486,;PIDD,3_prime_UTR_variant,,ENST00000525028,;PIDD,3_prime_UTR_variant,,ENST00000531286,;PIDD,non_coding_transcript_exon_variant,,ENST00000527357,;PIDD,non_coding_transcript_exon_variant,,ENST00000534525,;SLC25A22,upstream_gene_variant,,ENST00000532361,;SLC25A22,upstream_gene_variant,,ENST00000529351,;SLC25A22,upstream_gene_variant,,ENST00000532459,;	uc001lro.1	c.1995C>T	2137/2998	1	1			c.1995C>T						11	SNP	c.(1993-1995)GGC>GGT	60	60				0	Broad	leucine rich repeat and death domain containing			800589		0.682	ENSG00000177595	8768	g.chr11:800589G>A	apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding							35.937646	KEEP	8	7	-1	11	9	8	7	-1	36.047725	11	9	0.4375	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC25A22_uc009yci.2_5'Flank|SLC25A22_uc001lrj.2_5'Flank|LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Silent_p.G665G|LRDD_uc001lrl.1_Silent_p.G508G|LRDD_uc001lrm.1_Silent_p.G352G|LRDD_uc001lrn.1_Silent_p.G508G|LRDD_uc001lrp.1_Silent_p.G327G	10	GBM-06-0122-TP	p.G665G	G	AGAACTCTTCGCCCTCGAACA	NM_145886	NP_665893	800589	Q9HB75	PIDD_HUMAN	0		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	12	2137	-	A	A		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	Silent	665						
PIF1	0	broad.mit.edu	GRCh37	15	65110455	65110455	+	splice_donor_variant	Splice_Site	DEL	C	C	-			TCGA-19-5951-01	TCGA-19-5951-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268043.4:c.1528+1delG		p.X510_splice	ENST00000268043				0			1			-		uc002ant.2	protein_coding	YES	CCDS10195.2			1528/1926										0	c.e10+1				DNA helicase homolog PIF1				ENSP00000268043											COSM2156626		.		ENST00000268043	Transcript			negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding	ENSG00000140451	g.chr15:65110455delC	26220			HIGH	12-Oct							--	--	1																																		PIF1_uc002anr.2_Splice_Site_p.G58_splice|PIF1_uc002ans.2_Splice_Site_p.G201_splice|PIF1_uc010uiq.1_Splice_Site_p.G510_splice	1	1			p.G510_splice	NM_025049	NP_079325			1	PIF1_HUMAN	PIF1	HGNC	Q9H611	PIF1_HUMAN			B2RPL7_HUMAN		10	1594	-			UPI00005EDD9F						deletion	PIF1,splice_donor_variant,,ENST00000268043,;PIF1,splice_donor_variant,,ENST00000559239,NM_025049.2,NM_001286499.1,NM_001286496.1;PIF1,splice_donor_variant,,ENST00000333425,NM_001286497.1;PIF1,splice_donor_variant,,ENST00000559522,;PIF1,splice_donor_variant,,ENST00000559872,;PIF1,downstream_gene_variant,,ENST00000560444,;PIF1,downstream_gene_variant,,ENST00000558380,;PIF1,downstream_gene_variant,,ENST00000558547,;	uc002ant.2	c.1528_splice	-/2687	5	5			c.1528_splice						15	DEL	c.e10+1	29	29				0	Broad	DNA helicase homolog PIF1			65110455		0.582	ENSG00000140451	11686	g.chr15:65110455delC	negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding																				0.32	1	1	0	1	0	0	0	0	1	--	--		0	-			PIF1_uc002anr.2_Splice_Site_p.G58_splice|PIF1_uc002ans.2_Splice_Site_p.G201_splice|PIF1_uc010uiq.1_Splice_Site_p.G510_splice	171	GBM-19-5951-TP	p.G510_splice	C	CCAACACTTACCTCTCCCTTC	NM_025049	NP_079325	65110455	Q9H611	PIF1_HUMAN	0			10	1594	-	-	-			Splice_Site							
PIGF	5281	broad.mit.edu	GRCh37	2	46808672	46808672	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-5411-01	TCGA-06-5411-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281382.6:c.605T>C	p.Ile202Thr	p.I202T	ENST00000281382	NM_002643.3	202	aTt/aCt	0			1			G	I/T	uc002rvd.2	protein_coding	YES	CCDS1827.1			605/660										0	c.(604-606)ATT>ACT			Pfam_domain:PF06699,hmmpanther:PTHR15095,Transmembrane_helices:TMhelix	phosphatidylinositol glycan anchor biosynthesis,				ENSP00000281382		6-Jun									COSM2153144	6-Jun	.		ENST00000281382	Transcript			C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	ethanolaminephosphotransferase activity	ENSG00000151665	g.chr2:46808672A>G	8962			MODERATE		1.93	medium	getma.org/?cm=msa&ty=f&p=PIGF_HUMAN&rb=12&re=206&var=I202T	NA	getma.org/?cm=var&var=hg19,2,46808672,A,G&fts=all	I202T	--	--	1																																		RHOQ_uc002rva.2_3'UTR|uc002rvb.2_5'Flank|PIGF_uc002rvc.2_3'UTR	1	1		benign(0.018)	p.I202T	NM_002643	NP_002634		tolerated(0.12)	1	PIGF_HUMAN	PIGF	HGNC	Q07326	PIGF_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		Q6IB04_HUMAN,E5RIN5_HUMAN		6	769	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	UPI0000030AE2	202			Helical; (Potential).		SNV	PIGF,missense_variant,p.Ile202Thr,ENST00000281382,NM_002643.3;RHOQ,3_prime_UTR_variant,,ENST00000238738,NM_012249.3;PIGF,3_prime_UTR_variant,,ENST00000306465,NM_173074.2;RHOQ,downstream_gene_variant,,ENST00000482449,;RP11-417F21.1,upstream_gene_variant,,ENST00000506009,;PIGF,non_coding_transcript_exon_variant,,ENST00000482786,;PIGF,3_prime_UTR_variant,,ENST00000412717,;PIGF,3_prime_UTR_variant,,ENST00000420164,;RHOQ,downstream_gene_variant,,ENST00000489471,;RHOQ,downstream_gene_variant,,ENST00000473428,;RHOQ,downstream_gene_variant,,ENST00000432183,;RHOQ,downstream_gene_variant,,ENST00000494370,;RHOQ,downstream_gene_variant,,ENST00000489448,;	uc002rvd.2	c.605T>C	776/1372	3	3			c.605T>C						2	SNP	c.(604-606)ATT>ACT	15	15				0	Broad	phosphatidylinositol glycan anchor biosynthesis,			46808672		0.418	ENSG00000151665	11690	g.chr2:46808672A>G	C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	ethanolaminephosphotransferase activity							34.84392	KEEP	6	10	-1	20	17	6	10	-1	35.34653	20	17	0.357143	1	0	0	0	0	1	0	0	0	--	--		0	G			RHOQ_uc002rva.2_3'UTR|uc002rvb.2_5'Flank|PIGF_uc002rvc.2_3'UTR	94	GBM-06-5411-TP	p.I202T	A	GAGTGGTGAAATAACAAGGCC	NM_002643	NP_002634	46808672	Q07326	PIGF_HUMAN	0	LUSC - Lung squamous cell carcinoma(58;0.114)		6	769	-	G	G		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Missense_Mutation	202			Helical; (Potential).			
PIGN	23556		GRCh37	18	59757728	59757728	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000357637.5:c.2264G>A	p.Gly755Asp	p.G755D	ENST00000357637	NM_176787.4	755	gGt/gAt	0																																																																																																																																																																																																																																												
PIGO	0	broad.mit.edu	GRCh37	9	35095288	35095288	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378617.3:c.275G>T	p.Arg92Ile	p.R92I	ENST00000378617	NM_032634.3	92	aGa/aTa	0			1			A	R/I	uc003zwd.2	protein_coding	YES	CCDS6575.1			275/3270									large_intestine(1)|ovary(1)|skin(1)	3	c.(274-276)AGA>ATA			hmmpanther:PTHR23071,Gene3D:3.40.720.10,Superfamily_domains:SSF53649	phosphatidylinositol glycan anchor biosynthesis,				ENSP00000367880		11-Feb									COSM3413636	11-Feb	.		ENST00000378617	Transcript	1		C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	ENSG00000165282	g.chr9:35095288C>A	23215			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=PIGO_HUMAN&rb=1&re=181&var=R92I	NA	getma.org/?cm=var&var=hg19,9,35095288,C,A&fts=all	R92I	--	--	1																																		PIGO_uc003zwc.1_Missense_Mutation_p.R92I|PIGO_uc003zwe.2_Missense_Mutation_p.R92I|PIGO_uc003zwf.2_Missense_Mutation_p.R92I|PIGO_uc003zwg.1_5'UTR	1	1		benign(0)	p.R92I	NM_032634	NP_116023		tolerated(0.23)	1	PIGO_HUMAN	PIGO	HGNC	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)				2	671	-			UPI0000048EF6	92					SNV	PIGO,missense_variant,p.Arg92Ile,ENST00000378617,NM_032634.3;PIGO,missense_variant,p.Arg92Ile,ENST00000341666,;PIGO,missense_variant,p.Arg92Ile,ENST00000298004,NM_001201484.1;PIGO,missense_variant,p.Arg92Ile,ENST00000361778,NM_152850.3;STOML2,downstream_gene_variant,,ENST00000356493,NM_013442.1,NM_001287032.1;STOML2,downstream_gene_variant,,ENST00000452248,NM_001287031.1;RP11-182N22.8,upstream_gene_variant,,ENST00000431804,;PIGO,non_coding_transcript_exon_variant,,ENST00000492770,;PIGO,non_coding_transcript_exon_variant,,ENST00000472208,;PIGO,upstream_gene_variant,,ENST00000491687,;PIGO,non_coding_transcript_exon_variant,,ENST00000474436,;PIGO,non_coding_transcript_exon_variant,,ENST00000465745,;STOML2,downstream_gene_variant,,ENST00000488050,;	uc003zwd.2	c.275G>T	670/4066	2	2			c.275G>T						9	SNP	c.(274-276)AGA>ATA	48	48			large_intestine(1)|ovary(1)|skin(1)	3	Broad	phosphatidylinositol glycan anchor biosynthesis,			35095288		0.582	ENSG00000165282	11697	g.chr9:35095288C>A	C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity							-58.670961	KEEP	3	2	0.4	124	176	3	2	0.4	7.719887	124	176	0.019531	1	0	0	0	0	1	0	0	0	--	--		0	A			PIGO_uc003zwc.1_Missense_Mutation_p.R92I|PIGO_uc003zwe.2_Missense_Mutation_p.R92I|PIGO_uc003zwf.2_Missense_Mutation_p.R92I|PIGO_uc003zwg.1_5'UTR	160	GBM-19-1790-TP	p.R92I	C	AGGAGGCTCTCTAGGCACGTG	NM_032634	NP_116023	35095288	Q8TEQ8	PIGO_HUMAN	0	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		2	671	-	A	A			Missense_Mutation	92						
PIGO	0	broad.mit.edu	GRCh37	9	35090223	35090223	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5134-01	TCGA-26-5134-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378617.3:c.2909G>A	p.Arg970Gln	p.R970Q	ENST00000378617	NM_032634.3	970	cGg/cAg	0			1			T	R/Q	uc003zwd.2	protein_coding	YES	CCDS6575.1			2909/3270									large_intestine(1)|ovary(1)|skin(1)	3	c.(2908-2910)CGG>CAG			hmmpanther:PTHR23071	phosphatidylinositol glycan anchor biosynthesis,				ENSP00000367880		11-Sep	1.65E-05					1.52E-05		6.07E-05	rs781623319,COSM2157013	11-Sep	.		ENST00000378617	Transcript	1		C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	ENSG00000165282	g.chr9:35090223C>T	23215			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=PIGO_HUMAN&rb=919&re=1089&var=R970Q	NA	getma.org/?cm=var&var=hg19,9,35090223,C,T&fts=all	R970Q	--	--	1																																		PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Missense_Mutation_p.R553Q|PIGO_uc003zwf.2_Missense_Mutation_p.R553Q|PIGO_uc003zwg.1_3'UTR	0,1	1		benign(0.006)	p.R970Q	NM_032634	NP_116023		tolerated(0.29)	0,1	PIGO_HUMAN	PIGO	HGNC	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)				9	3305	-			UPI0000048EF6	970					SNV	PIGO,missense_variant,p.Arg970Gln,ENST00000378617,NM_032634.3;PIGO,missense_variant,p.Arg970Gln,ENST00000341666,;PIGO,missense_variant,p.Arg553Gln,ENST00000298004,NM_001201484.1;PIGO,missense_variant,p.Arg553Gln,ENST00000361778,NM_152850.3;PIGO,intron_variant,,ENST00000491687,;PIGO,downstream_gene_variant,,ENST00000492770,;PIGO,downstream_gene_variant,,ENST00000472208,;PIGO,non_coding_transcript_exon_variant,,ENST00000474436,;PIGO,non_coding_transcript_exon_variant,,ENST00000465745,;	uc003zwd.2	c.2909G>A	3304/4066	2	2			c.2909G>A						9	SNP	c.(2908-2910)CGG>CAG	21	21			large_intestine(1)|ovary(1)|skin(1)	3	Broad	phosphatidylinositol glycan anchor biosynthesis,			35090223		0.607	ENSG00000165282	11697	g.chr9:35090223C>T	C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity							136.415722	KEEP	17	31	-1	44	42	17	31	-1	138.131972	44	42	0.373984	1	0	0	0	0	1	0	0	0	--	--		0	T			PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Missense_Mutation_p.R553Q|PIGO_uc003zwf.2_Missense_Mutation_p.R553Q|PIGO_uc003zwg.1_3'UTR	183	GBM-26-5134-TP	p.R970Q	C	CTGTCTCTTCCGCAGCCCTTG	NM_032634	NP_116023	35090223	Q8TEQ8	PIGO_HUMAN	0	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		9	3305	-	T	T			Missense_Mutation	970						
PIGO	0	broad.mit.edu	GRCh37	9	35092240	35092240	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-41-2572-01	TCGA-41-2572-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378617.3:c.1644C>A	p.Pro548=	p.P548=	ENST00000378617	NM_032634.3	548	ccC/ccA	0			1			T	P	uc003zwd.2	protein_coding	YES	CCDS6575.1			1644/3270									large_intestine(1)|ovary(1)|skin(1)	3	c.(1642-1644)CCC>CCA			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR23071	phosphatidylinositol glycan anchor biosynthesis,				ENSP00000367880		11-Jul									COSM3413635	11-Jul	.		ENST00000378617	Transcript	1		C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	ENSG00000165282	g.chr9:35092240G>T	23215			LOW								--	--	1																																		PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Intron|PIGO_uc003zwf.2_Intron|PIGO_uc003zwg.1_Silent_p.P111P	1	1			p.P548P	NM_032634	NP_116023			1	PIGO_HUMAN	PIGO	HGNC	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)				7	2040	-			UPI0000048EF6	548			Helical; (Potential).		SNV	PIGO,synonymous_variant,p.=,ENST00000378617,NM_032634.3;PIGO,synonymous_variant,p.=,ENST00000341666,;PIGO,intron_variant,,ENST00000298004,NM_001201484.1;PIGO,intron_variant,,ENST00000361778,NM_152850.3;RP11-182N22.8,upstream_gene_variant,,ENST00000431804,;PIGO,downstream_gene_variant,,ENST00000492770,;PIGO,upstream_gene_variant,,ENST00000491687,;PIGO,downstream_gene_variant,,ENST00000472208,;PIGO,non_coding_transcript_exon_variant,,ENST00000474436,;PIGO,non_coding_transcript_exon_variant,,ENST00000465745,;	uc003zwd.2	c.1644C>A	2039/4066	2	2			c.1644C>A						9	SNP	c.(1642-1644)CCC>CCA	47	47			large_intestine(1)|ovary(1)|skin(1)	3	Broad	phosphatidylinositol glycan anchor biosynthesis,			35092240		0.577	ENSG00000165282	11697	g.chr9:35092240G>T	C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity							-10.739123	KEEP	1	2	0.333333333	52	36	1	2	0.333333333	6.364547	52	36	0.04	1	0	0	0	0	0	0	1	0	--	--		0	T			PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Intron|PIGO_uc003zwf.2_Intron|PIGO_uc003zwg.1_Silent_p.P111P	251	GBM-41-2572-TP	p.P548P	G	GTAACAGGACGGGCCCAGGGA	NM_032634	NP_116023	35092240	Q8TEQ8	PIGO_HUMAN	0	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	2040	-	T	T			Silent	548			Helical; (Potential).			
PIGR	0	broad.mit.edu	GRCh37	1	207108974	207108974	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1991-01	TCGA-32-1991-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356495.4:c.1235G>A	p.Arg412His	p.R412H	ENST00000356495	NM_002644.3	412	cGc/cAc	0			1			T	R/H	uc001hez.2	protein_coding	YES	CCDS1474.1			1235/2295									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(1234-1236)CGC>CAC			hmmpanther:PTHR11860:SF44,hmmpanther:PTHR11860,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726	polymeric immunoglobulin receptor precursor				ENSP00000348888		11-May	1.65E-05			0.000116		1.52E-05			rs767107680,COSM3400242	11-May	.		ENST00000356495	Transcript				extracellular region|integral to plasma membrane	protein binding	ENSG00000162896	g.chr1:207108974C>T	8968			MODERATE		2.84	medium	getma.org/?cm=msa&ty=f&p=PIGR_HUMAN&rb=349&re=456&var=R412H	getma.org/pdb.php?prot=PIGR_HUMAN&from=349&to=456&var=R412H	getma.org/?cm=var&var=hg19,1,207108974,C,T&fts=all	R412H	--	--	1																																OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	PIGR_uc009xbz.2_Missense_Mutation_p.R412H	0,1	1		probably_damaging(1)	p.R412H	NM_002644	NP_002635		deleterious(0)	0,1	PIGR_HUMAN	PIGR	HGNC	P01833	PIGR_HUMAN					5	1419	-			UPI000007407E	412			Ig-like V-type 4.|Extracellular (Potential).		SNV	PIGR,missense_variant,p.Arg412His,ENST00000356495,NM_002644.3;PIGR,upstream_gene_variant,,ENST00000487208,;PIGR,downstream_gene_variant,,ENST00000491503,;	uc001hez.2	c.1235G>A	1419/4279	2	2			c.1235G>A						1	SNP	c.(1234-1236)CGC>CAC	47	47			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	polymeric immunoglobulin receptor precursor			207108974		0.637	ENSG00000162896	11700	g.chr1:207108974C>T		extracellular region|integral to plasma membrane	protein binding							38.934931	KEEP	5	9	-1	13	30	5	9	-1	40.504749	13	30	0.304348	1	0	0	0	0	1	0	0	0	--	--		0	T	OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	PIGR_uc009xbz.2_Missense_Mutation_p.R412H	234	GBM-32-1991-TP	p.R412H	C	CAGGGAGAGGCGGCCCTCGTA	NM_002644	NP_002635	207108974	P01833	PIGR_HUMAN	0			5	1419	-	T	T			Missense_Mutation	412			Ig-like V-type 4.|Extracellular (Potential).			
PIGR	5284		GRCh37	1	207109154	207109154	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000356495.4:c.1055T>A	p.Ile352Asn	p.I352N	ENST00000356495	NM_002644.3	352	aTt/aAt	0																																																																																																																																																																																																																																												
PIGU	128869	broad.mit.edu	GRCh37	20	33169458	33169460	+	inframe_deletion	In_Frame_Del	DEL	GAA	GAA	-			TCGA-06-0209-01	TCGA-06-0209-01	GAA	GAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217446.3:c.943_945del	p.Phe315del	p.F315del	ENST00000217446	NM_080476.4	315	TTC/-	0			1			-	F/-	uc002xas.2	protein_coding	YES	CCDS13239.1			943-945/1308										0	c.(943-945)TTCdel			Pfam_domain:PF06728,hmmpanther:PTHR13121	phosphatidylinositol glycan anchor biosynthesis,				ENSP00000217446		12-Oct										12-Oct	.		ENST00000217446	Transcript			attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane		ENSG00000101464	g.chr20:33169458_33169460delGAA	15791			MODERATE								--	--	1																																		PIGU_uc010zul.1_In_Frame_Del_p.F315del|PIGU_uc002xat.2_In_Frame_Del_p.F295del		1			p.F315del	NM_080476	NP_536724				PIGU_HUMAN	PIGU	HGNC	Q9H490	PIGU_HUMAN					10	1143_1145	-			UPI0000131ABC	315			Helical; (Potential).		deletion	PIGU,inframe_deletion,p.Phe315del,ENST00000217446,NM_080476.4;PIGU,inframe_deletion,p.Phe295del,ENST00000374820,;PIGU,inframe_deletion,p.Phe315del,ENST00000452740,;PIGU,inframe_deletion,p.Phe61del,ENST00000438215,;PIGU,non_coding_transcript_exon_variant,,ENST00000480175,;	uc002xas.2	c.943_945delTTC	943-945/1632	5	5			c.943_945delTTC						20	DEL	c.(943-945)TTCdel	10	10				0	Broad	phosphatidylinositol glycan anchor biosynthesis,			33169460		0.562	ENSG00000101464	11703	g.chr20:33169458_33169460delGAA	attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				160			160														0.2	1	1	0	1	0	0	0	0	0	--	--		0	-			PIGU_uc010zul.1_In_Frame_Del_p.F315del|PIGU_uc002xat.2_In_Frame_Del_p.F295del	46	GBM-06-0209-TP	p.F315del	GAA	GGATAAACATGAAGAAGATGGGG	NM_080476	NP_536724	33169458	Q9H490	PIGU_HUMAN	0			10	1143_1145	-	-	-			In_Frame_Del	315			Helical; (Potential).			
PIGZ	80235	broad.mit.edu	GRCh37	3	196675037	196675037	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0749-01	TCGA-06-0749-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000412723.1:c.731G>A	p.Arg244His	p.R244H	ENST00000412723	NM_025163.3	244	cGt/cAt	0		T:0	1	T:0		T	R/H	uc003fxh.2	protein_coding	YES	CCDS3324.1			731/1740									ovary(3)	3	c.(730-732)CGT>CAT			Pfam_domain:PF03901,hmmpanther:PTHR22760,hmmpanther:PTHR22760:SF3	phosphatidylinositol glycan anchor biosynthesis,		T:0.001		ENSP00000413405	T:0	3-Mar	4.12E-05			0.000116				0.00026	rs202144183,COSM3408553	3-Mar	.		ENST00000412723	Transcript		T:0.0002	GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	ENSG00000119227	g.chr3:196675037C>T	30596			MODERATE		0.39	neutral	getma.org/?cm=msa&ty=f&p=PIGZ_HUMAN&rb=37&re=474&var=R244H	NA	getma.org/?cm=var&var=hg19,3,196675037,C,T&fts=all	R244H	--	--	1																																			0,1	1		benign(0.002)	p.R244H	NM_025163	NP_079439	T:0	tolerated(0.54)	0,1	PIGZ_HUMAN	PIGZ	HGNC	Q86VD9	PIGZ_HUMAN	Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)			3	878	-	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		UPI000013CA2C	244					SNV	PIGZ,missense_variant,p.Arg244His,ENST00000412723,NM_025163.3;PIGZ,3_prime_UTR_variant,,ENST00000413127,;PIGZ,3_prime_UTR_variant,,ENST00000443835,;NCBP2-AS2,downstream_gene_variant,,ENST00000602845,;PIGZ,downstream_gene_variant,,ENST00000238138,;	uc003fxh.2	c.731G>A	878/2701	2	2			c.731G>A						3	SNP	c.(730-732)CGT>CAT	43	43			ovary(3)	3	Broad	phosphatidylinositol glycan anchor biosynthesis,			196675037		0.637	ENSG00000119227	11708	g.chr3:196675037C>T	GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity							2.702817	KEEP	3	4	-1	28	31	3	4	-1	11.802809	28	31	0.103448	1	0	0	0	0	1	0	0	0	--	--		0	T				69	GBM-06-0749-TP	p.R244H	C	TGTGGCTCCACGAGTGCCCCA	NM_025163	NP_079439	196675037	Q86VD9	PIGZ_HUMAN	0	Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)	3	878	-	T	T	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Missense_Mutation	244						
PIH1D2	0	broad.mit.edu	GRCh37	11	111943820	111943820	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000280350.4:c.79C>T	p.Pro27Ser	p.P27S	ENST00000280350	NM_138789.3	27	Cct/Tct	0			1			A	P/S	uc001pmq.3	protein_coding	YES	CCDS8355.1			79/948									ovary(1)	1	c.(79-81)CCT>TCT			hmmpanther:PTHR22997,hmmpanther:PTHR22997:SF2,Pfam_domain:PF08190	PIH1 domain containing 2 isoform 1				ENSP00000280350		6-Feb									COSM3397414	6-Feb	.		ENST00000280350	Transcript						ENSG00000150773	g.chr11:111943820G>A	25210			MODERATE		2.27	medium	getma.org/?cm=msa&ty=f&p=PIHD2_HUMAN&rb=19&re=314&var=P27S	NA	getma.org/?cm=var&var=hg19,11,111943820,G,A&fts=all	P27S	--	--	1																																		PIH1D2_uc009yyl.2_Missense_Mutation_p.P27S|PIH1D2_uc001pmp.3_Missense_Mutation_p.P27S|PIH1D2_uc010rws.1_Missense_Mutation_p.P27S|C11orf57_uc001pmu.2_5'Flank|C11orf57_uc001pmw.3_5'Flank|C11orf57_uc001pmt.3_5'Flank|C11orf57_uc001pmr.3_5'Flank|C11orf57_uc001pmv.3_5'Flank|C11orf57_uc001pms.3_5'Flank	1	1		probably_damaging(1)	p.P27S	NM_138789	NP_620144		deleterious(0)	1	PIHD2_HUMAN	PIH1D2	HGNC	Q8WWB5	PIHD2_HUMAN		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)			2	161	-		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	UPI000007007A	27					SNV	PIH1D2,missense_variant,p.Pro27Ser,ENST00000530641,;PIH1D2,missense_variant,p.Pro27Ser,ENST00000431456,NM_001082619.1;PIH1D2,missense_variant,p.Pro27Ser,ENST00000280350,NM_138789.3;PIH1D2,missense_variant,p.Pro27Ser,ENST00000532211,;PIH1D2,missense_variant,p.Pro27Ser,ENST00000528775,;C11orf57,upstream_gene_variant,,ENST00000532163,;C11orf57,upstream_gene_variant,,ENST00000280352,NM_018195.3,NM_001082970.1;C11orf57,upstream_gene_variant,,ENST00000393047,;C11orf57,upstream_gene_variant,,ENST00000420986,NM_001082969.1;C11orf57,upstream_gene_variant,,ENST00000530104,;C11orf57,upstream_gene_variant,,ENST00000525785,;PIH1D2,upstream_gene_variant,,ENST00000525072,;C11orf57,upstream_gene_variant,,ENST00000531378,;C11orf57,upstream_gene_variant,,ENST00000526879,;PIH1D2,upstream_gene_variant,,ENST00000521853,;C11orf57,upstream_gene_variant,,ENST00000524989,;PIH1D2,upstream_gene_variant,,ENST00000525744,;	uc001pmq.3	c.79C>T	302/1241	1	1			c.79C>T						11	SNP	c.(79-81)CCT>TCT	62	62			ovary(1)	1	Broad	PIH1 domain containing 2 isoform 1			111943820		0.463	ENSG00000150773	11710	g.chr11:111943820G>A										194.65979	KEEP	26	34	-1	28	19	26	34	-1	195.217071	28	19	0.58	1	0	0	0	0	1	0	0	0	--	--		0	A			PIH1D2_uc009yyl.2_Missense_Mutation_p.P27S|PIH1D2_uc001pmp.3_Missense_Mutation_p.P27S|PIH1D2_uc010rws.1_Missense_Mutation_p.P27S|C11orf57_uc001pmu.2_5'Flank|C11orf57_uc001pmw.3_5'Flank|C11orf57_uc001pmt.3_5'Flank|C11orf57_uc001pmr.3_5'Flank|C11orf57_uc001pmv.3_5'Flank|C11orf57_uc001pms.3_5'Flank	249	GBM-32-5222-TP	p.P27S	G	TAGCCCTCAGGGTCACTCTGA	NM_138789	NP_620144	111943820	Q8WWB5	PIHD2_HUMAN	0		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)	2	161	-	A	A		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	Missense_Mutation	27						
PIK3C2A	0	broad.mit.edu	GRCh37	11	17111388	17111388	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01	TCGA-19-5951-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265970.7:c.4958G>A	p.Arg1653Gln	p.R1653Q	ENST00000265970	NM_002645.2	1653	cGg/cAg	0			1			T	R/Q	uc001mmq.3	protein_coding	YES	CCDS7824.1			4958/5061									lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10	c.(4957-4959)CGG>CAG			Superfamily_domains:SSF49562,SMART_domains:SM00239,Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004	phosphoinositide-3-kinase, class 2 alpha	Phosphatidylserine(DB00144)			ENSP00000265970		32/32									COSM2156641	32/32	.		ENST00000265970	Transcript			cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	ENSG00000011405	g.chr11:17111388C>T	8971			MODERATE		0.65	neutral	getma.org/?cm=msa&ty=f&p=P3C2A_HUMAN&rb=1574&re=1662&var=R1653Q	getma.org/pdb.php?prot=P3C2A_HUMAN&from=1574&to=1662&var=R1653Q	getma.org/?cm=var&var=hg19,11,17111388,C,T&fts=all	R1653Q	--	--	1																																		PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.R1273Q|PIK3C2A_uc001mmr.3_Intron	1	1		probably_damaging(0.999)	p.R1653Q	NM_002645	NP_002636		tolerated(0.41)	1	P3C2A_HUMAN	PIK3C2A	HGNC	O00443	P3C2A_HUMAN			L7RRS0_HUMAN,F5H2B0_HUMAN,E9PPP3_HUMAN		32	5024	-			UPI000013D6B3	1653			C2.		SNV	PIK3C2A,missense_variant,p.Arg1653Gln,ENST00000265970,NM_002645.2;PIK3C2A,missense_variant,p.Arg1273Gln,ENST00000540361,;PIK3C2A,intron_variant,,ENST00000531428,;	uc001mmq.3	c.4958G>A	4958/8227	2	2			c.4958G>A						11	SNP	c.(4957-4959)CGG>CAG	40	40			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10	Broad	phosphoinositide-3-kinase, class 2 alpha		Phosphatidylserine(DB00144)	17111388		0.413	ENSG00000011405	11712	g.chr11:17111388C>T	cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			733			733	461.53558	KEEP	73	82	-1	77	102	73	82	-1	461.801001	77	102	0.467797	1	0	0	0	0	1	0	0	0	--	--		0	T			PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.R1273Q|PIK3C2A_uc001mmr.3_Intron	171	GBM-19-5951-TP	p.R1653Q	C	AAAATTCTCCCGCAGAGATTC	NM_002645	NP_002636	17111388	O00443	P3C2A_HUMAN	0			32	5024	-	T	T			Missense_Mutation	1653			C2.			
PIK3C2B	5287	broad.mit.edu	GRCh37	1	204410639	204410639	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-2557-01	TCGA-06-2557-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367187.3:c.3209A>C	p.Asn1070Thr	p.N1070T	ENST00000367187	NM_002646.3	1070	aAt/aCt	0			1			G	N/T	uc001haw.2	protein_coding	YES	CCDS1446.1			3209/4905									lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	c.(3208-3210)AAT>ACT			Gene3D:3.30.1010.10,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF30,Superfamily_domains:SSF56112	phosphoinositide-3-kinase, class 2 beta				ENSP00000356155		22/34									COSM2152545	22/34	.		ENST00000367187	Transcript			cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	ENSG00000133056	g.chr1:204410639T>G	8972			MODERATE		1.47	low	getma.org/?cm=msa&ty=f&p=P3C2B_HUMAN&rb=992&re=1076&var=N1070T	NA	getma.org/?cm=var&var=hg19,1,204410639,T,G&fts=all	N1070T	--	--	1																																		PIK3C2B_uc010pqv.1_Missense_Mutation_p.N1042T	1	1		possibly_damaging(0.904)	p.N1070T	NM_002646	NP_002637		deleterious(0.02)	1	P3C2B_HUMAN	PIK3C2B	HGNC	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		Q5SW98_HUMAN,Q5SW97_HUMAN,Q4LE65_HUMAN,A2RUF7_HUMAN		22	3688	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		UPI00002056D1	1070					SNV	PIK3C2B,missense_variant,p.Asn1070Thr,ENST00000367187,NM_002646.3;PIK3C2B,missense_variant,p.Asn1042Thr,ENST00000424712,;	uc001haw.2	c.3209A>C	3766/7686	3	3			c.3209A>C						1	SNP	c.(3208-3210)AAT>ACT	61	61			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	Broad	phosphoinositide-3-kinase, class 2 beta			204410639		0.527	ENSG00000133056	11713	g.chr1:204410639T>G	cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			466			466	165.811711	KEEP	19	31	-1	21	19	19	31	-1	166.091119	21	19	0.564103	1	0	0	0	0	1	0	0	0	--	--		0	G			PIK3C2B_uc010pqv.1_Missense_Mutation_p.N1042T	81	GBM-06-2557-TP	p.N1070T	T	GGGATCCACATTTTGGAAGGA	NM_002646	NP_002637	204410639	O00750	P3C2B_HUMAN	0	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		22	3688	-	G	G	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		Missense_Mutation	1070						
PIK3C2B	0	broad.mit.edu	GRCh37	1	204438072	204438072	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs115574296	by1000genomes	TCGA-19-5952-01	TCGA-19-5952-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367187.3:c.859delC	p.Arg287AlafsTer92	p.R287Afs*92	ENST00000367187	NM_002646.3	287	Cgc/gc	0			1			-	R/X	uc001haw.2	protein_coding	YES	CCDS1446.1			859/4905									lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	c.(859-861)CGCfs			hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF30	phosphoinositide-3-kinase, class 2 beta				ENSP00000356155		Mar-34									COSM314154	Mar-34	.		ENST00000367187	Transcript			cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	ENSG00000133056	g.chr1:204438072delG	8972			HIGH								--	--	1																																		PIK3C2B_uc010pqv.1_Frame_Shift_Del_p.R287fs|PIK3C2B_uc001hax.1_Frame_Shift_Del_p.R287fs|PIK3C2B_uc009xbd.1_RNA	1	1			p.R287fs	NM_002646	NP_002637			1	P3C2B_HUMAN	PIK3C2B	HGNC	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		Q5SW98_HUMAN,Q5SW97_HUMAN,Q4LE65_HUMAN,A2RUF7_HUMAN		3	1338	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		UPI00002056D1	287			Interaction with GRB2.		deletion	PIK3C2B,frameshift_variant,p.Arg287AlafsTer92,ENST00000367187,NM_002646.3;PIK3C2B,frameshift_variant,p.Arg287AlafsTer92,ENST00000424712,;PIK3C2B,downstream_gene_variant,,ENST00000415899,;PIK3C2B,upstream_gene_variant,,ENST00000367184,;PIK3C2B,downstream_gene_variant,,ENST00000429009,;	uc001haw.2	c.859delC	1416/7686	5	5			c.859delC						1	DEL	c.(859-861)CGCfs	9	9			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	Broad	phosphoinositide-3-kinase, class 2 beta			204438072		0.622	ENSG00000133056	11713	g.chr1:204438072delG	cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			466			466														0.01	1	1	0	1	0	0	0	0	0	--	--		0	-			PIK3C2B_uc010pqv.1_Frame_Shift_Del_p.R287fs|PIK3C2B_uc001hax.1_Frame_Shift_Del_p.R287fs|PIK3C2B_uc009xbd.1_RNA	172	GBM-19-5952-TP	p.R287fs	G	GCATAGGTGCGGGGGGGCACC	NM_002646	NP_002637	204438072	O00750	P3C2B_HUMAN	0	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		3	1338	-	-	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		Frame_Shift_Del	287			Interaction with GRB2.			
PIK3C2B	0	broad.mit.edu	GRCh37	1	204438072	204438072	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs115574296	by1000genomes	TCGA-27-2518-01	TCGA-27-2518-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367187.3:c.859delC	p.Arg287AlafsTer92	p.R287Afs*92	ENST00000367187	NM_002646.3	287	Cgc/gc	0			1			-	R/X	uc001haw.2	protein_coding	YES	CCDS1446.1			859/4905									lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	c.(859-861)CGCfs			hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF30	phosphoinositide-3-kinase, class 2 beta				ENSP00000356155		Mar-34									COSM314154	Mar-34	.		ENST00000367187	Transcript			cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	ENSG00000133056	g.chr1:204438072delG	8972			HIGH								--	--	1																																		PIK3C2B_uc010pqv.1_Frame_Shift_Del_p.R287fs|PIK3C2B_uc001hax.1_Frame_Shift_Del_p.R287fs|PIK3C2B_uc009xbd.1_RNA	1	1			p.R287fs	NM_002646	NP_002637			1	P3C2B_HUMAN	PIK3C2B	HGNC	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		Q5SW98_HUMAN,Q5SW97_HUMAN,Q4LE65_HUMAN,A2RUF7_HUMAN		3	1338	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		UPI00002056D1	287			Interaction with GRB2.		deletion	PIK3C2B,frameshift_variant,p.Arg287AlafsTer92,ENST00000367187,NM_002646.3;PIK3C2B,frameshift_variant,p.Arg287AlafsTer92,ENST00000424712,;PIK3C2B,downstream_gene_variant,,ENST00000415899,;PIK3C2B,upstream_gene_variant,,ENST00000367184,;PIK3C2B,downstream_gene_variant,,ENST00000429009,;	uc001haw.2	c.859delC	1416/7686	5	5			c.859delC						1	DEL	c.(859-861)CGCfs	9	9			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	Broad	phosphoinositide-3-kinase, class 2 beta			204438072		0.622	ENSG00000133056	11713	g.chr1:204438072delG	cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			466			466														0.01	1	1	0	1	0	0	0	0	0	--	--		0	-			PIK3C2B_uc010pqv.1_Frame_Shift_Del_p.R287fs|PIK3C2B_uc001hax.1_Frame_Shift_Del_p.R287fs|PIK3C2B_uc009xbd.1_RNA	198	GBM-27-2518-TP	p.R287fs	G	GCATAGGTGCGGGGGGGCACC	NM_002646	NP_002637	204438072	O00750	P3C2B_HUMAN	0	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		3	1338	-	-	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		Frame_Shift_Del	287			Interaction with GRB2.			
PIK3C2G	5288	broad.mit.edu	GRCh37	12	18576934	18576934	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266497.5:c.2342G>A	p.Arg781His	p.R781H	ENST00000266497		781	cGc/cAc	0			1			A	R/H	uc001rdt.2	protein_coding		CCDS44839.1			2342/4338								p.R781H(1)	lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21	c.(2341-2343)CGC>CAC			Gene3D:1.25.40.70,Pfam_domain:PF00613,PROSITE_profiles:PS51545,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF29,SMART_domains:SM00145,Superfamily_domains:SSF48371	phosphoinositide-3-kinase, class 2 gamma				ENSP00000266497		16/31	1.66E-05		0.000119						rs765821860	16/31	.		ENST00000266497	Transcript			cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	ENSG00000139144	g.chr12:18576934G>A	8973			MODERATE		3.11	medium	getma.org/?cm=msa&ty=f&p=P3C2G_HUMAN&rb=646&re=828&var=R781H	getma.org/pdb.php?prot=P3C2G_HUMAN&from=646&to=828&var=R781H	getma.org/?cm=var&var=hg19,12,18576934,G,A&fts=all	R781H	--	--	1																																		PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.R822H|PIK3C2G_uc010sic.1_Missense_Mutation_p.R600H				benign(0.248)	p.R781H	NM_004570	NP_004561		deleterious(0.01)		P3C2G_HUMAN	PIK3C2G	HGNC	O75747	P3C2G_HUMAN					17	2458	+		Hepatocellular(102;0.194)	UPI000013D6EF	781					SNV	PIK3C2G,missense_variant,p.Arg781His,ENST00000433979,NM_004570.4;PIK3C2G,missense_variant,p.Arg781His,ENST00000266497,;PIK3C2G,missense_variant,p.Arg822His,ENST00000538779,NM_001288772.1;PIK3C2G,3_prime_UTR_variant,,ENST00000546003,NM_001288774.1;RP11-459D22.1,upstream_gene_variant,,ENST00000535964,;	uc001rdt.2	c.2342G>A	2380/4754	2	2			c.2342G>A						12	SNP	c.(2341-2343)CGC>CAC	48	48		p.R781H(1)	lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21	Broad	phosphoinositide-3-kinase, class 2 gamma			18576934		0.428	ENSG00000139144	11714	g.chr12:18576934G>A	cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			655			655	24.229524	KEEP	4	7	-1	12	17	4	7	-1	25.524239	12	17	0.294118	1	0	0	0	0	1	0	0	0	--	--		0	A			PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.R822H|PIK3C2G_uc010sic.1_Missense_Mutation_p.R600H	18	GBM-06-0137-TP	p.R781H	G	CTACTCCACCGCTCCTTGCAG	NM_004570	NP_004561	18576934	O75747	P3C2G_HUMAN	0			17	2458	+	A	A		Hepatocellular(102;0.194)	Missense_Mutation	781						
PIK3C2G	5288	broad.mit.edu	GRCh37	12	18658236	18658236	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0145-01	TCGA-06-0145-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266497.5:c.3041A>G	p.Asn1014Ser	p.N1014S	ENST00000266497		1014	aAc/aGc	0			1			G	N/S	uc001rdt.2	protein_coding		CCDS44839.1			3041/4338								p.N1014S(1)	lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21	c.(3040-3042)AAC>AGC			Gene3D:1.10.1070.11,Pfam_domain:PF00454,PROSITE_profiles:PS50290,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF29,SMART_domains:SM00146,Superfamily_domains:SSF56112	phosphoinositide-3-kinase, class 2 gamma				ENSP00000266497		22/31									COSM43050,COSM1360525	22/31	.		ENST00000266497	Transcript			cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	ENSG00000139144	g.chr12:18658236A>G	8973			MODERATE		2.395	medium	getma.org/?cm=msa&ty=f&p=P3C2G_HUMAN&rb=915&re=1130&var=N1014S	getma.org/pdb.php?prot=P3C2G_HUMAN&from=915&to=1130&var=N1014S	getma.org/?cm=var&var=hg19,12,18658236,A,G&fts=all	N1014S	--	--	1																																		PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.N1055S|PIK3C2G_uc010sic.1_Missense_Mutation_p.N833S	1,1			probably_damaging(1)	p.N1014S	NM_004570	NP_004561		deleterious(0.02)	1,1	P3C2G_HUMAN	PIK3C2G	HGNC	O75747	P3C2G_HUMAN					23	3157	+		Hepatocellular(102;0.194)	UPI000013D6EF	1014			PI3K/PI4K.		SNV	PIK3C2G,missense_variant,p.Asn1014Ser,ENST00000433979,NM_004570.4;PIK3C2G,missense_variant,p.Asn1014Ser,ENST00000266497,;PIK3C2G,missense_variant,p.Asn1055Ser,ENST00000538779,NM_001288772.1;PIK3C2G,3_prime_UTR_variant,,ENST00000546003,NM_001288774.1;	uc001rdt.2	c.3041A>G	3079/4754	3	3			c.3041A>G						12	SNP	c.(3040-3042)AAC>AGC	63	63		p.N1014S(1)	lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21	Broad	phosphoinositide-3-kinase, class 2 gamma			18658236		0.378	ENSG00000139144	11714	g.chr12:18658236A>G	cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			655			655	41.325597	KEEP	9	5	-1	10	2	9	5	-1	41.325597	10	2	0.5	1	0	0	0	0	1	0	0	0	--	--		0	G			PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.N1055S|PIK3C2G_uc010sic.1_Missense_Mutation_p.N833S	23	GBM-06-0145-TP	p.N1014S	A	GCCTTGAGGAACTTTTTCTAC	NM_004570	NP_004561	18658236	O75747	P3C2G_HUMAN	0			23	3157	+	G	G		Hepatocellular(102;0.194)	Missense_Mutation	1014			PI3K/PI4K.			
PIK3C2G	5288	broad.mit.edu	GRCh37	12	18552608	18552608	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0154-01	TCGA-06-0154-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266497.5:c.2019G>C	p.Lys673Asn	p.K673N	ENST00000266497		673	aaG/aaC	0			1			C	K/N	uc001rdt.2	protein_coding		CCDS44839.1			2019/4338									lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21	c.(2017-2019)AAG>AAC			Gene3D:1.25.40.70,Pfam_domain:PF00613,PROSITE_profiles:PS51545,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF29,SMART_domains:SM00145,Superfamily_domains:SSF48371	phosphoinositide-3-kinase, class 2 gamma				ENSP00000266497		14/31									COSM2149912,COSM2149911	14/31	.		ENST00000266497	Transcript			cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	ENSG00000139144	g.chr12:18552608G>C	8973			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=P3C2G_HUMAN&rb=646&re=828&var=K673N	getma.org/pdb.php?prot=P3C2G_HUMAN&from=646&to=828&var=K673N	getma.org/?cm=var&var=hg19,12,18552608,G,C&fts=all	K673N	--	--	1																																		PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.K714N|PIK3C2G_uc010sic.1_Missense_Mutation_p.K492N	1,1			possibly_damaging(0.826)	p.K673N	NM_004570	NP_004561		tolerated(0.09)	1,1	P3C2G_HUMAN	PIK3C2G	HGNC	O75747	P3C2G_HUMAN					15	2135	+		Hepatocellular(102;0.194)	UPI000013D6EF	673					SNV	PIK3C2G,missense_variant,p.Lys673Asn,ENST00000433979,NM_004570.4;PIK3C2G,missense_variant,p.Lys673Asn,ENST00000266497,;PIK3C2G,missense_variant,p.Lys714Asn,ENST00000538779,NM_001288772.1;PIK3C2G,3_prime_UTR_variant,,ENST00000546003,NM_001288774.1;	uc001rdt.2	c.2019G>C	2057/4754	4	4			c.2019G>C						12	SNP	c.(2017-2019)AAG>AAC	35	35			lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21	Broad	phosphoinositide-3-kinase, class 2 gamma			18552608		0.378	ENSG00000139144	11714	g.chr12:18552608G>C	cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity		p.K673N(SNU1041-Tumor)	655		p.K673N(SNU1041-Tumor)	655	89.481786	KEEP	13	22	-1	52	60	13	22	-1	97.746393	52	60	0.234375	1	0	0	0	0	1	0	0	0	--	--		0	C			PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.K714N|PIK3C2G_uc010sic.1_Missense_Mutation_p.K492N	26	GBM-06-0154-TP	p.K673N	G	CTGAAGAAAAGAAAAGATATT	NM_004570	NP_004561	18552608	O75747	P3C2G_HUMAN	0			15	2135	+	C	C		Hepatocellular(102;0.194)	Missense_Mutation	673						
PIK3C2G	5288	broad.mit.edu	GRCh37	12	18716419	18716419	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0644-01	TCGA-06-0644-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266497.5:c.3766C>T	p.Leu1256=	p.L1256=	ENST00000266497		1256	Ctg/Ttg	0			1			T	L	uc001rdt.2	protein_coding		CCDS44839.1			3766/4338									lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21	c.(3766-3768)CTG>TTG			Gene3D:3.30.1520.10,Pfam_domain:PF00787,PROSITE_profiles:PS50195,SMART_domains:SM00312,Superfamily_domains:SSF64268	phosphoinositide-3-kinase, class 2 gamma				ENSP00000266497		26/31									COSM3398586,COSM3398585	26/31	.		ENST00000266497	Transcript			cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	ENSG00000139144	g.chr12:18716419C>T	8973			LOW								--	--	1																																		PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Silent_p.L1297L|PIK3C2G_uc010sic.1_Silent_p.L1075L	1,1				p.L1256L	NM_004570	NP_004561			1,1	P3C2G_HUMAN	PIK3C2G	HGNC	O75747	P3C2G_HUMAN					27	3882	+		Hepatocellular(102;0.194)	UPI000013D6EF	1256			PX.		SNV	PIK3C2G,synonymous_variant,p.=,ENST00000433979,NM_004570.4;PIK3C2G,synonymous_variant,p.=,ENST00000266497,;PIK3C2G,synonymous_variant,p.=,ENST00000538779,NM_001288772.1;PIK3C2G,3_prime_UTR_variant,,ENST00000546003,NM_001288774.1;	uc001rdt.2	c.3766C>T	3804/4754	2	2			c.3766C>T						12	SNP	c.(3766-3768)CTG>TTG	33	33			lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21	Broad	phosphoinositide-3-kinase, class 2 gamma			18716419		0.398	ENSG00000139144	11714	g.chr12:18716419C>T	cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			655			655	-14.75922	KEEP	0	3	-1	47	62	0	3	-1	6.621846	47	62	0.033333	1	0	0	0	0	0	0	1	0	--	--		0	T			PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Silent_p.L1297L|PIK3C2G_uc010sic.1_Silent_p.L1075L	58	GBM-06-0644-TP	p.L1256L	C	GTTTGCATCACTGACTCTCCC	NM_004570	NP_004561	18716419	O75747	P3C2G_HUMAN	0			27	3882	+	T	T		Hepatocellular(102;0.194)	Silent	1256			PX.			
PIK3C2G	0	broad.mit.edu	GRCh37	12	18435551	18435551	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-5952-01	TCGA-19-5952-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266497.5:c.536A>G	p.Asn179Ser	p.N179S	ENST00000266497		179	aAt/aGt	0			1			G	N/S	uc001rdt.2	protein_coding		CCDS44839.1			536/4338									lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21	c.(535-537)AAT>AGT			Low_complexity_(Seg):seg	phosphoinositide-3-kinase, class 2 gamma				ENSP00000266497		31-Jan									COSM3398580,COSM3398579	31-Jan	.		ENST00000266497	Transcript			cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	ENSG00000139144	g.chr12:18435551A>G	8973			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=P3C2G_HUMAN&rb=1&re=200&var=N179S	NA	getma.org/?cm=var&var=hg19,12,18435551,A,G&fts=all	N179S	--	--	1																																		PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.N179S|PIK3C2G_uc010sic.1_5'UTR	1,1			benign(0.019)	p.N179S	NM_004570	NP_004561		tolerated_low_confidence(0.2)	1,1	P3C2G_HUMAN	PIK3C2G	HGNC	O75747	P3C2G_HUMAN					2	652	+		Hepatocellular(102;0.194)	UPI000013D6EF	179					SNV	PIK3C2G,missense_variant,p.Asn179Ser,ENST00000433979,NM_004570.4;PIK3C2G,missense_variant,p.Asn179Ser,ENST00000266497,;PIK3C2G,missense_variant,p.Asn179Ser,ENST00000538779,NM_001288772.1;PIK3C2G,missense_variant,p.Asn179Ser,ENST00000535651,;RERGL,intron_variant,,ENST00000541632,;PIK3C2G,upstream_gene_variant,,ENST00000536967,;PIK3C2G,missense_variant,p.Asn179Ser,ENST00000546003,NM_001288774.1;	uc001rdt.2	c.536A>G	574/4754	3	3			c.536A>G						12	SNP	c.(535-537)AAT>AGT	62	62			lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21	Broad	phosphoinositide-3-kinase, class 2 gamma			18435551		0.343	ENSG00000139144	11714	g.chr12:18435551A>G	cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			655			655	248.91024	KEEP	31	46	-1	52	57	31	46	-1	250.068309	52	57	0.411765	1	0	0	0	0	1	0	0	0	--	--		0	G			PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.N179S|PIK3C2G_uc010sic.1_5'UTR	172	GBM-19-5952-TP	p.N179S	A	CCTCCAACAAATTCATCCTTC	NM_004570	NP_004561	18435551	O75747	P3C2G_HUMAN	0			2	652	+	G	G		Hepatocellular(102;0.194)	Missense_Mutation	179						
PIK3C2G	0	broad.mit.edu	GRCh37	12	18658397	18658397	+	splice_donor_variant	Splice_Site	SNP	T	T	C			TCGA-76-6285-01	TCGA-76-6285-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266497.5:c.3200+2T>C		p.X1067_splice	ENST00000266497				0			1			C		uc001rdt.2	protein_coding		CCDS44839.1			3200/4338									lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21	c.e23+2				phosphoinositide-3-kinase, class 2 gamma				ENSP00000266497											COSM3398584,COSM3398583		.		ENST00000266497	Transcript			cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	ENSG00000139144	g.chr12:18658397T>C	8973			HIGH	22/30							--	--	1																																		PIK3C2G_uc010sia.1_Splice_Site|PIK3C2G_uc010sib.1_Splice_Site_p.R1108_splice|PIK3C2G_uc010sic.1_Splice_Site_p.R886_splice	1,1				p.R1067_splice	NM_004570	NP_004561			1,1	P3C2G_HUMAN	PIK3C2G	HGNC	O75747	P3C2G_HUMAN					23	3316	+		Hepatocellular(102;0.194)	UPI000013D6EF						SNV	PIK3C2G,splice_donor_variant,,ENST00000433979,NM_004570.4;PIK3C2G,splice_donor_variant,,ENST00000266497,;PIK3C2G,splice_donor_variant,,ENST00000538779,NM_001288772.1;PIK3C2G,splice_donor_variant,,ENST00000546003,NM_001288774.1;	uc001rdt.2	c.3200_splice	-/4754	5	3			c.3200_splice						12	SNP	c.e23+2	56	56			lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21	Broad	phosphoinositide-3-kinase, class 2 gamma			18658397		0.368	ENSG00000139144	11714	g.chr12:18658397T>C	cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			655			655	28.598425	KEEP	2	6	-1	3	7	2	6	-1	28.646734	3	7	0.444444	1	0	0	0	0	0	0	0	1	--	--		0	C			PIK3C2G_uc010sia.1_Splice_Site|PIK3C2G_uc010sib.1_Splice_Site_p.R1108_splice|PIK3C2G_uc010sic.1_Splice_Site_p.R886_splice	280	GBM-76-6285-TP	p.R1067_splice	T	GATAAAAAGGTCAGTGCACAA	NM_004570	NP_004561	18658397	O75747	P3C2G_HUMAN	0			23	3316	+	C	C		Hepatocellular(102;0.194)	Splice_Site							
PIK3C2G	5288		GRCh37	12	18658296	18658296	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000266497.5:c.3101G>A	p.Arg1034His	p.R1034H	ENST00000266497		1034	cGt/cAt	0																																																																																																																																																																																																																																												
PIK3C2G	5288		GRCh37	12	18435195	18435195	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000266497.5:c.180A>G	p.Glu60=	p.E60=	ENST00000266497		60	gaA/gaG	0																																																																																																																																																																																																																																												
PIK3CA	5290	broad.mit.edu	GRCh37	3	178921553	178921553	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs121913284		TCGA-02-0047-01	TCGA-02-0047-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263967.3:c.1035T>A	p.Asn345Lys	p.N345K	ENST00000263967	NM_006218.2	345	aaT/aaA	0			1			A	N/K	uc003fjk.2	protein_coding	YES	CCDS43171.1		57	1035/3207	Mis				colorectal|gastric|gliobastoma|breast			p.N345K(29)|p.N345I(2)|p.N345S(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	c.(1033-1035)AAT>AAA			PROSITE_profiles:PS51547,hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,Gene3D:2.60.40.150,SMART_domains:SM00142,Superfamily_domains:SSF49562	phosphoinositide-3-kinase, catalytic, alpha				ENSP00000263967		21-May									rs121913284,COSM754,COSM132748	21-May	.		ENST00000263967	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	ENSG00000121879	g.chr3:178921553T>A	8975			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=PK3CA_HUMAN&rb=330&re=487&var=N345K	getma.org/pdb.php?prot=PK3CA_HUMAN&from=330&to=487&var=N345K	getma.org/?cm=var&var=hg19,3,178921553,T,A&fts=all	N345K	--	--	1				HNSCC(19;0.045)|TSP Lung(28;0.18)																															0,1,1	1		probably_damaging(1)	p.N345K	NM_006218	NP_006209		deleterious(0.01)	0,1,1	PK3CA_HUMAN	PIK3CA	HGNC	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN		5	1192	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		UPI000013D494	345					SNV	PIK3CA,missense_variant,p.Asn345Lys,ENST00000263967,NM_006218.2;PIK3CA,downstream_gene_variant,,ENST00000468036,;PIK3CA,downstream_gene_variant,,ENST00000477735,;	uc003fjk.2	c.1035T>A	1192/9093	2	2		57	c.1035T>A	Mis				colorectal|gastric|gliobastoma|breast	3	SNP	c.(1033-1035)AAT>AAA	41	41		p.N345K(29)|p.N345I(2)|p.N345S(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	Broad	phosphoinositide-3-kinase, catalytic, alpha			178921553		0.308	ENSG00000121879	11716	g.chr3:178921553T>A	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	Colon(199;1504 1750 3362 26421 31210 32040)		621	Colon(199;1504 1750 3362 26421 31210 32040)		621	166.703561	KEEP	25	35	-1	58	57	25	35	-1	170.685081	58	57	0.333333	1	0	0	0	0	1	0	0	0	--	--	HNSCC(19;0.045)|TSP Lung(28;0.18)	0	A				3	GBM-02-0047-TP	p.N345K	T	CCTACGTGAATGTAAATATTC	NM_006218	NP_006209	178921553	P42336	PK3CA_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		5	1192	+	A	A	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		Missense_Mutation	345						
PIK3CA	5290	broad.mit.edu	GRCh37	3	178916921	178916921	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-02-2485-01	TCGA-02-2485-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263967.3:c.308A>G	p.Glu103Gly	p.E103G	ENST00000263967	NM_006218.2	103	gAa/gGa	0			1			G	E/G	uc003fjk.2	protein_coding	YES	CCDS43171.1		57	308/3207	Mis				colorectal|gastric|gliobastoma|breast				breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	c.(307-309)GAA>GGA			PROSITE_profiles:PS51544,hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,Pfam_domain:PF02192,Gene3D:3.10.20.90,SMART_domains:SM00143	phosphoinositide-3-kinase, catalytic, alpha				ENSP00000263967		21-Feb									COSM3408452,COSM3408451	21-Feb	.		ENST00000263967	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	ENSG00000121879	g.chr3:178916921A>G	8975			MODERATE		2.22	medium	getma.org/?cm=msa&ty=f&p=PK3CA_HUMAN&rb=31&re=108&var=E103G	getma.org/pdb.php?prot=PK3CA_HUMAN&from=31&to=108&var=E103G	getma.org/?cm=var&var=hg19,3,178916921,A,G&fts=all	E103G	--	--	1				HNSCC(19;0.045)|TSP Lung(28;0.18)																															1,1	1		probably_damaging(0.992)	p.E103G	NM_006218	NP_006209		deleterious(0.01)	1,1	PK3CA_HUMAN	PIK3CA	HGNC	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN		2	465	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		UPI000013D494	103			PI3K-ABD.		SNV	PIK3CA,missense_variant,p.Glu103Gly,ENST00000263967,NM_006218.2;PIK3CA,missense_variant,p.Glu103Gly,ENST00000468036,;PIK3CA,downstream_gene_variant,,ENST00000477735,;	uc003fjk.2	c.308A>G	465/9093	3	3		57	c.308A>G	Mis				colorectal|gastric|gliobastoma|breast	3	SNP	c.(307-309)GAA>GGA	8	8			breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	Broad	phosphoinositide-3-kinase, catalytic, alpha			178916921		0.348	ENSG00000121879	11716	g.chr3:178916921A>G	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	Colon(199;1504 1750 3362 26421 31210 32040)		621	Colon(199;1504 1750 3362 26421 31210 32040)		621	230.723151	KEEP	28	39	-1	38	45	28	39	-1	230.914103	38	45	0.459854	1	0	0	0	0	1	0	0	0	--	--	HNSCC(19;0.045)|TSP Lung(28;0.18)	0	G				7	GBM-02-2485-TP	p.E103G	A	AAAGTAATTGAACCAGTAGGC	NM_006218	NP_006209	178916921	P42336	PK3CA_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	465	+	G	G	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		Missense_Mutation	103			PI3K-ABD.			
PIK3CA	5290	broad.mit.edu	GRCh37	3	178916641	178916661	+	inframe_deletion	In_Frame_Del	DEL	CTGTGGGGCATCCACTTGATG	CTGTGGGGCATCCACTTGATG	-			TCGA-06-0166-01	TCGA-06-0166-01	CTGTGGGGCATCCACTTGATG	CTGTGGGGCATCCACTTGATG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263967.3:c.29_49del	p.Leu10_Met16del	p.L10_M16del	ENST00000263967	NM_006218.2	10	CTGTGGGGCATCCACTTGATG/-	0			1			-	LWGIHLM/-	uc003fjk.2	protein_coding	YES	CCDS43171.1		57	28-48/3207	Mis				colorectal|gastric|gliobastoma|breast			p.G12D(2)|p.L10_M16del(1)|p.L15_V22>PM(1)|p.E9_R19del(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	c.(28-48)CTGTGGGGCATCCACTTGATGdel			PROSITE_profiles:PS51544,hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,Gene3D:3.10.20.90	phosphoinositide-3-kinase, catalytic, alpha				ENSP00000263967		21-Feb										21-Feb	.		ENST00000263967	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	ENSG00000121879	g.chr3:178916641_178916661delCTGTGGGGCATCCACTTGATG	8975	1		MODERATE								--	--	1				HNSCC(19;0.045)|TSP Lung(28;0.18)																																1			p.LWGIHLM10del	NM_006218	NP_006209				PK3CA_HUMAN	PIK3CA	HGNC	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN		2	185_205	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		UPI000013D494	10_16					deletion	PIK3CA,inframe_deletion,p.Leu10_Met16del,ENST00000263967,NM_006218.2;PIK3CA,inframe_deletion,p.Leu10_Met16del,ENST00000468036,;PIK3CA,inframe_deletion,p.Leu10_Met16del,ENST00000477735,;	uc003fjk.2	c.28_48delCTGTGGGGCATCCACTTGATG	185-205/9093	5	5		57	c.28_48delCTGTGGGGCATCCACTTGATG	Mis				colorectal|gastric|gliobastoma|breast	3	DEL	c.(28-48)CTGTGGGGCATCCACTTGATGdel	57	57		p.G12D(2)|p.L10_M16del(1)|p.L15_V22>PM(1)|p.E9_R19del(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	Broad	phosphoinositide-3-kinase, catalytic, alpha			178916661		0.394	ENSG00000121879	11716	g.chr3:178916641_178916661delCTGTGGGGCATCCACTTGATG	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	Colon(199;1504 1750 3362 26421 31210 32040)	p.M16I(DMS153-Tumor)	621	Colon(199;1504 1750 3362 26421 31210 32040)	p.M16I(DMS153-Tumor)	621														0.08	1	1	0	1	0	0	0	0	0	--	--	HNSCC(19;0.045)|TSP Lung(28;0.18)	0	-				31	GBM-06-0166-TP	p.LWGIHLM10del	CTGTGGGGCATCCACTTGATG	ATCAGGTGAACTGTGGGGCATCCACTTGATGCCCCCAAGAA	NM_006218	NP_006209	178916641	P42336	PK3CA_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	185_205	+	-	-	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		In_Frame_Del	10_16						
PIK3CA	5290	broad.mit.edu	GRCh37	3	178952072	178952072	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0171-01	TCGA-06-0171-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263967.3:c.3127A>G	p.Met1043Val	p.M1043V	ENST00000263967	NM_006218.2	1043	Atg/Gtg	0			1			G	M/V	uc003fjk.2	protein_coding	YES	CCDS43171.1		57	3127/3207	Mis				colorectal|gastric|gliobastoma|breast			p.M1043I(31)|p.M1043V(15)|p.M1043T(3)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	c.(3127-3129)ATG>GTG			PROSITE_profiles:PS50290,hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,Gene3D:1.10.1070.11,SMART_domains:SM00146,Superfamily_domains:SSF56112	phosphoinositide-3-kinase, catalytic, alpha				ENSP00000263967		21/21									COSM12591,COSM94983	21/21	.		ENST00000263967	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	ENSG00000121879	g.chr3:178952072A>G	8975			MODERATE		-0.485	neutral	getma.org/?cm=msa&ty=f&p=PK3CA_HUMAN&rb=797&re=1068&var=M1043V	getma.org/pdb.php?prot=PK3CA_HUMAN&from=797&to=1068&var=M1043V	getma.org/?cm=var&var=hg19,3,178952072,A,G&fts=all	M1043V	--	--	1				HNSCC(19;0.045)|TSP Lung(28;0.18)																															1,1	1		benign(0.037)	p.M1043V	NM_006218	NP_006209		tolerated(0.06)	1,1	PK3CA_HUMAN	PIK3CA	HGNC	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN		21	3284	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		UPI000013D494	1043		M -> I (in cancer; shows an increase in lipid kinase activity).	PI3K/PI4K.		SNV	PIK3CA,missense_variant,p.Met1043Val,ENST00000263967,NM_006218.2;RP11-245C23.3,downstream_gene_variant,,ENST00000609807,;	uc003fjk.2	c.3127A>G	3284/9093	4	4		57	c.3127A>G	Mis				colorectal|gastric|gliobastoma|breast	3	SNP	c.(3127-3129)ATG>GTG	18	18		p.M1043I(31)|p.M1043V(15)|p.M1043T(3)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	Broad	phosphoinositide-3-kinase, catalytic, alpha			178952072		0.368	ENSG00000121879	11716	g.chr3:178952072A>G	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	Colon(199;1504 1750 3362 26421 31210 32040)		621	Colon(199;1504 1750 3362 26421 31210 32040)		621	141.27127	KEEP	23	23	-1	27	56	23	23	-1	143.393404	27	56	0.353982	1	0	0	0	0	1	0	0	0	--	--	HNSCC(19;0.045)|TSP Lung(28;0.18)	0	G				35	GBM-06-0171-TP	p.M1043V	A	CATGAAACAAATGAATGATGC	NM_006218	NP_006209	178952072	P42336	PK3CA_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3284	+	G	G	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		Missense_Mutation	1043		M -> I (in cancer; shows an increase in lipid kinase activity).	PI3K/PI4K.			
PIK3CA	5290	broad.mit.edu	GRCh37	3	178936091	178936091	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-06-0210-01	TCGA-06-0210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263967.3:c.1633G>A	p.Glu545Lys	p.E545K	ENST00000263967	NM_006218.2	545	Gag/Aag	0			1			A	E/K	uc003fjk.2	protein_coding	YES	CCDS43171.1	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	1633/3207	Mis				colorectal|gastric|gliobastoma|breast	not_provided,pathogenic		p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	c.(1633-1635)GAG>AAG			PROSITE_profiles:PS51545,hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,Pfam_domain:PF00613,Gene3D:1.25.40.70,SMART_domains:SM00145,Superfamily_domains:SSF48371	phosphoinositide-3-kinase, catalytic, alpha				ENSP00000263967		21-Oct									rs104886003,COSM763,COSM125370	21-Oct	.		ENST00000263967	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	ENSG00000121879	g.chr3:178936091G>A	8975			MODERATE		1.62	low	getma.org/?cm=msa&ty=f&p=PK3CA_HUMAN&rb=519&re=704&var=E545K	getma.org/pdb.php?prot=PK3CA_HUMAN&from=519&to=704&var=E545K	getma.org/?cm=var&var=hg19,3,178936091,G,A&fts=all	E545K	--	--	1				HNSCC(19;0.045)|TSP Lung(28;0.18)																															1,1,1	1	21264207	probably_damaging(0.959)	p.E545K	NM_006218	NP_006209		deleterious(0.02)	0,1,1	PK3CA_HUMAN	PIK3CA	HGNC	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		UPI000013D494	545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		SNV	PIK3CA,missense_variant,p.Glu545Lys,ENST00000263967,NM_006218.2;PIK3CA,upstream_gene_variant,,ENST00000462255,;	uc003fjk.2	c.1633G>A	1790/9093	1	1	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	c.1633G>A	Mis				colorectal|gastric|gliobastoma|breast	3	SNP	c.(1633-1635)GAG>AAG	60	60		p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	Broad	phosphoinositide-3-kinase, catalytic, alpha			178936091		0.353	ENSG00000121879	11716	g.chr3:178936091G>A	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	Colon(199;1504 1750 3362 26421 31210 32040)	p.E545K(NCIH508-Tumor)|p.E545K(L363-Tumor)|p.E545K(KYSE510-Tumor)|p.E545K(MKN1-Tumor)|p.E545K(BFTC909-Tumor)|p.E545K(NCIH460-Tumor)|p.E545K(HCC202-Tumor)|p.E545K(KPL1-Tumor)|p.E545K(NCIH596-Tumor)|p.E545K(HUH28-Tumor)|p.E545K(MDAMB361-Tumor)|p.E545K(ESS1-Tumor)|p.E545K(TE5-Tumor)|p.E545K(HSC4-Tumor)|p.E545K(RERFLCSQ1-Tumor)	621	Colon(199;1504 1750 3362 26421 31210 32040)	p.E545K(NCIH508-Tumor)|p.E545K(L363-Tumor)|p.E545K(KYSE510-Tumor)|p.E545K(MKN1-Tumor)|p.E545K(BFTC909-Tumor)|p.E545K(NCIH460-Tumor)|p.E545K(HCC202-Tumor)|p.E545K(KPL1-Tumor)|p.E545K(NCIH596-Tumor)|p.E545K(HUH28-Tumor)|p.E545K(MDAMB361-Tumor)|p.E545K(ESS1-Tumor)|p.E545K(TE5-Tumor)|p.E545K(HSC4-Tumor)|p.E545K(RERFLCSQ1-Tumor)	621	16.307633	KEEP	4	3	-1	15	11	4	3	-1	18.262033	15	11	0.233333	1	0	0	0	0	1	0	0	0	--	--	HNSCC(19;0.045)|TSP Lung(28;0.18)	0	A				47	GBM-06-0210-TP	p.E545K	G	TGAAATCACTGAGCAGGAGAA	NM_006218	NP_006209	178936091	P42336	PK3CA_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	A	A	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		Missense_Mutation	545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.			
PIK3CA	5290	broad.mit.edu	GRCh37	3	178928081	178928081	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0879-01	TCGA-06-0879-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263967.3:c.1359A>C	p.Glu453Asp	p.E453D	ENST00000263967	NM_006218.2	453	gaA/gaC	0			1			C	E/D	uc003fjk.2	protein_coding	YES	CCDS43171.1		57	1359/3207	Mis				colorectal|gastric|gliobastoma|breast			p.E453K(5)|p.E453A(1)|p.P449_L455del(1)|p.G451_L456>V(1)|p.E453del(1)|p.E453Q(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	c.(1357-1359)GAA>GAC			PROSITE_profiles:PS51547,hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,Pfam_domain:PF00792,Gene3D:2.60.40.150,Superfamily_domains:SSF49562	phosphoinositide-3-kinase, catalytic, alpha				ENSP00000263967		21-Aug									COSM3408454,COSM3408453	21-Aug	.		ENST00000263967	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	ENSG00000121879	g.chr3:178928081A>C	8975			MODERATE		-0.06	neutral	getma.org/?cm=msa&ty=f&p=PK3CA_HUMAN&rb=350&re=485&var=E453D	getma.org/pdb.php?prot=PK3CA_HUMAN&from=350&to=485&var=E453D	getma.org/?cm=var&var=hg19,3,178928081,A,C&fts=all	E453D	--	--	1				HNSCC(19;0.045)|TSP Lung(28;0.18)																															1,1	1		benign(0.027)	p.E453D	NM_006218	NP_006209		tolerated(0.68)	1,1	PK3CA_HUMAN	PIK3CA	HGNC	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN		8	1516	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		UPI000013D494	453		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).	C2 PI3K-type.		SNV	PIK3CA,missense_variant,p.Glu453Asp,ENST00000263967,NM_006218.2;	uc003fjk.2	c.1359A>C	1516/9093	4	4		57	c.1359A>C	Mis				colorectal|gastric|gliobastoma|breast	3	SNP	c.(1357-1359)GAA>GAC	36	36		p.E453K(5)|p.E453A(1)|p.P449_L455del(1)|p.G451_L456>V(1)|p.E453del(1)|p.E453Q(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	Broad	phosphoinositide-3-kinase, catalytic, alpha			178928081		0.348	ENSG00000121879	11716	g.chr3:178928081A>C	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	Colon(199;1504 1750 3362 26421 31210 32040)		621	Colon(199;1504 1750 3362 26421 31210 32040)		621	69.24723	KEEP	25	13	-1	73	77	25	13	-1	83.717416	73	77	0.196429	1	0	0	0	0	1	0	0	0	--	--	HNSCC(19;0.045)|TSP Lung(28;0.18)	0	C				75	GBM-06-0879-TP	p.E453D	A	ATGGATTAGAAGATTTGCTGA	NM_006218	NP_006209	178928081	P42336	PK3CA_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		8	1516	+	C	C	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		Missense_Mutation	453		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).	C2 PI3K-type.			
PIK3CA	5290	broad.mit.edu	GRCh37	3	178928087	178928101	+	inframe_deletion	In_Frame_Del	DEL	GCTGAACCCTATTGG	GCTGAACCCTATTGG	-			TCGA-06-0879-01	TCGA-06-0879-01	GCTGAACCCTATTGG	GCTGAACCCTATTGG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263967.3:c.1365_1379del	p.Leu455_Gly460delinsPhe	p.L455_G460delinsF	ENST00000263967	NM_006218.2	455	ttGCTGAACCCTATTGGt/ttt	0			1			-	LLNPIG/F	uc003fjk.2	protein_coding	YES	CCDS43171.1		57	1365-1379/3207	Mis				colorectal|gastric|gliobastoma|breast			p.N457K(1)|p.G451_L456>V(1)|p.P449_L455del(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	c.(1363-1380)TTGCTGAACCCTATTGGT>TTT			PROSITE_profiles:PS51547,hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,Pfam_domain:PF00792,Gene3D:2.60.40.150,Superfamily_domains:SSF49562	phosphoinositide-3-kinase, catalytic, alpha				ENSP00000263967		21-Aug										21-Aug	.		ENST00000263967	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	ENSG00000121879	g.chr3:178928087_178928101delGCTGAACCCTATTGG	8975			MODERATE								--	--	1				HNSCC(19;0.045)|TSP Lung(28;0.18)																																1			p.455_460LLNPIG>F	NM_006218	NP_006209				PK3CA_HUMAN	PIK3CA	HGNC	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN		8	1522_1536	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		UPI000013D494	455_460			C2 PI3K-type.		deletion	PIK3CA,inframe_deletion,p.Leu455_Gly460delinsPhe,ENST00000263967,NM_006218.2;	uc003fjk.2	c.1365_1379delGCTGAACCCTATTGG	1522-1536/9093	5	5		57	c.1365_1379delGCTGAACCCTATTGG	Mis				colorectal|gastric|gliobastoma|breast	3	DEL	c.(1363-1380)TTGCTGAACCCTATTGGT>TTT	54	54		p.N457K(1)|p.G451_L456>V(1)|p.P449_L455del(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	Broad	phosphoinositide-3-kinase, catalytic, alpha			178928101		0.33	ENSG00000121879	11716	g.chr3:178928087_178928101delGCTGAACCCTATTGG	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	Colon(199;1504 1750 3362 26421 31210 32040)		621	Colon(199;1504 1750 3362 26421 31210 32040)		621														0.15	1	1	0	1	0	0	0	0	0	--	--	HNSCC(19;0.045)|TSP Lung(28;0.18)	0	-				75	GBM-06-0879-TP	p.455_460LLNPIG>F	GCTGAACCCTATTGG	TAGAAGATTTGCTGAACCCTATTGGTGTTACTGGA	NM_006218	NP_006209	178928087	P42336	PK3CA_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		8	1522_1536	+	-	-	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		In_Frame_Del	455_460			C2 PI3K-type.			
PIK3CA	5290	broad.mit.edu	GRCh37	3	178936083	178936083	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-2570-01	TCGA-06-2570-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263967.3:c.1625A>T	p.Glu542Val	p.E542V	ENST00000263967	NM_006218.2	542	gAa/gTa	0			1			T	E/V	uc003fjk.2	protein_coding	YES	CCDS43171.1		57	1625/3207	Mis				colorectal|gastric|gliobastoma|breast			p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	c.(1624-1626)GAA>GTA			PROSITE_profiles:PS51545,hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,Pfam_domain:PF00613,Gene3D:1.25.40.70,SMART_domains:SM00145,Superfamily_domains:SSF48371	phosphoinositide-3-kinase, catalytic, alpha				ENSP00000263967		21-Oct									COSM762,COSM1041493	21-Oct	.		ENST00000263967	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	ENSG00000121879	g.chr3:178936083A>T	8975			MODERATE		1.24	low	getma.org/?cm=msa&ty=f&p=PK3CA_HUMAN&rb=519&re=704&var=E542V	getma.org/pdb.php?prot=PK3CA_HUMAN&from=519&to=704&var=E542V	getma.org/?cm=var&var=hg19,3,178936083,A,T&fts=all	E542V	--	--	1				HNSCC(19;0.045)|TSP Lung(28;0.18)																															1,1	1		probably_damaging(0.987)	p.E542V	NM_006218	NP_006209		deleterious(0.01)	1,1	PK3CA_HUMAN	PIK3CA	HGNC	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN		10	1782	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		UPI000013D494	542		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).	PI3K helical.		SNV	PIK3CA,missense_variant,p.Glu542Val,ENST00000263967,NM_006218.2;PIK3CA,upstream_gene_variant,,ENST00000462255,;	uc003fjk.2	c.1625A>T	1782/9093	1	1		57	c.1625A>T	Mis				colorectal|gastric|gliobastoma|breast	3	SNP	c.(1624-1626)GAA>GTA	1	1		p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	Broad	phosphoinositide-3-kinase, catalytic, alpha			178936083		0.333	ENSG00000121879	11716	g.chr3:178936083A>T	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	Colon(199;1504 1750 3362 26421 31210 32040)		621	Colon(199;1504 1750 3362 26421 31210 32040)		621	51.707396	KEEP	12	10	-1	17	23	12	10	-1	52.753326	17	23	0.351852	1	0	0	0	0	1	0	0	0	--	--	HNSCC(19;0.045)|TSP Lung(28;0.18)	0	T				91	GBM-06-2570-TP	p.E542V	A	CCTCTCTCTGAAATCACTGAG	NM_006218	NP_006209	178936083	P42336	PK3CA_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1782	+	T	T	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		Missense_Mutation	542		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).	PI3K helical.			
PIK3CA	5290	broad.mit.edu	GRCh37	3	178916728	178916728	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5413-01	TCGA-06-5413-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263967.3:c.115G>A	p.Glu39Lys	p.E39K	ENST00000263967	NM_006218.2	39	Gag/Aag	0			1			A	E/K	uc003fjk.2	protein_coding	YES	CCDS43171.1		57	115/3207	Mis				colorectal|gastric|gliobastoma|breast			p.E39K(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	c.(115-117)GAG>AAG			PROSITE_profiles:PS51544,hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,Pfam_domain:PF02192,Gene3D:3.10.20.90,SMART_domains:SM00143	phosphoinositide-3-kinase, catalytic, alpha				ENSP00000263967		21-Feb									COSM30625,COSM1041450	21-Feb	.		ENST00000263967	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	ENSG00000121879	g.chr3:178916728G>A	8975			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=PK3CA_HUMAN&rb=31&re=108&var=E39K	getma.org/pdb.php?prot=PK3CA_HUMAN&from=31&to=108&var=E39K	getma.org/?cm=var&var=hg19,3,178916728,G,A&fts=all	E39K	--	--	1				HNSCC(19;0.045)|TSP Lung(28;0.18)																															1,1	1		possibly_damaging(0.562)	p.E39K	NM_006218	NP_006209		deleterious(0.01)	1,1	PK3CA_HUMAN	PIK3CA	HGNC	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN		2	272	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		UPI000013D494	39			PI3K-ABD.		SNV	PIK3CA,missense_variant,p.Glu39Lys,ENST00000263967,NM_006218.2;PIK3CA,missense_variant,p.Glu39Lys,ENST00000468036,;PIK3CA,downstream_gene_variant,,ENST00000477735,;	uc003fjk.2	c.115G>A	272/9093	2	2		57	c.115G>A	Mis				colorectal|gastric|gliobastoma|breast	3	SNP	c.(115-117)GAG>AAG	21	21		p.E39K(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	Broad	phosphoinositide-3-kinase, catalytic, alpha			178916728		0.388	ENSG00000121879	11716	g.chr3:178916728G>A	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	Colon(199;1504 1750 3362 26421 31210 32040)		621	Colon(199;1504 1750 3362 26421 31210 32040)		621	105.643172	KEEP	13	25	-1	24	34	13	25	-1	106.577644	24	34	0.393617	1	0	0	0	0	1	0	0	0	--	--	HNSCC(19;0.045)|TSP Lung(28;0.18)	0	A				96	GBM-06-5413-TP	p.E39K	G	ATGCCTCCGTGAGGCTACATT	NM_006218	NP_006209	178916728	P42336	PK3CA_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	272	+	A	A	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		Missense_Mutation	39			PI3K-ABD.			
PIK3CA	5290	broad.mit.edu	GRCh37	3	178936091	178936091	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-06-5417-01	TCGA-06-5417-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263967.3:c.1633G>A	p.Glu545Lys	p.E545K	ENST00000263967	NM_006218.2	545	Gag/Aag	0			1			A	E/K	uc003fjk.2	protein_coding	YES	CCDS43171.1	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	1633/3207	Mis				colorectal|gastric|gliobastoma|breast	not_provided,pathogenic		p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	c.(1633-1635)GAG>AAG			PROSITE_profiles:PS51545,hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,Pfam_domain:PF00613,Gene3D:1.25.40.70,SMART_domains:SM00145,Superfamily_domains:SSF48371	phosphoinositide-3-kinase, catalytic, alpha				ENSP00000263967		21-Oct									rs104886003,COSM763,COSM125370	21-Oct	.		ENST00000263967	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	ENSG00000121879	g.chr3:178936091G>A	8975			MODERATE		1.62	low	getma.org/?cm=msa&ty=f&p=PK3CA_HUMAN&rb=519&re=704&var=E545K	getma.org/pdb.php?prot=PK3CA_HUMAN&from=519&to=704&var=E545K	getma.org/?cm=var&var=hg19,3,178936091,G,A&fts=all	E545K	--	--	1				HNSCC(19;0.045)|TSP Lung(28;0.18)																															1,1,1	1	21264207	probably_damaging(0.959)	p.E545K	NM_006218	NP_006209		deleterious(0.02)	0,1,1	PK3CA_HUMAN	PIK3CA	HGNC	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		UPI000013D494	545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		SNV	PIK3CA,missense_variant,p.Glu545Lys,ENST00000263967,NM_006218.2;PIK3CA,upstream_gene_variant,,ENST00000462255,;	uc003fjk.2	c.1633G>A	1790/9093	1	1	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	c.1633G>A	Mis				colorectal|gastric|gliobastoma|breast	3	SNP	c.(1633-1635)GAG>AAG	60	60		p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	Broad	phosphoinositide-3-kinase, catalytic, alpha			178936091		0.353	ENSG00000121879	11716	g.chr3:178936091G>A	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	Colon(199;1504 1750 3362 26421 31210 32040)	p.E545K(NCIH508-Tumor)|p.E545K(L363-Tumor)|p.E545K(KYSE510-Tumor)|p.E545K(MKN1-Tumor)|p.E545K(BFTC909-Tumor)|p.E545K(NCIH460-Tumor)|p.E545K(HCC202-Tumor)|p.E545K(KPL1-Tumor)|p.E545K(NCIH596-Tumor)|p.E545K(HUH28-Tumor)|p.E545K(MDAMB361-Tumor)|p.E545K(ESS1-Tumor)|p.E545K(TE5-Tumor)|p.E545K(HSC4-Tumor)|p.E545K(RERFLCSQ1-Tumor)	621	Colon(199;1504 1750 3362 26421 31210 32040)	p.E545K(NCIH508-Tumor)|p.E545K(L363-Tumor)|p.E545K(KYSE510-Tumor)|p.E545K(MKN1-Tumor)|p.E545K(BFTC909-Tumor)|p.E545K(NCIH460-Tumor)|p.E545K(HCC202-Tumor)|p.E545K(KPL1-Tumor)|p.E545K(NCIH596-Tumor)|p.E545K(HUH28-Tumor)|p.E545K(MDAMB361-Tumor)|p.E545K(ESS1-Tumor)|p.E545K(TE5-Tumor)|p.E545K(HSC4-Tumor)|p.E545K(RERFLCSQ1-Tumor)	621	127.270153	KEEP	23	25	-1	16	36	23	25	-1	127.270153	16	36	0.5	1	0	0	0	0	1	0	0	0	--	--	HNSCC(19;0.045)|TSP Lung(28;0.18)	0	A				99	GBM-06-5417-TP	p.E545K	G	TGAAATCACTGAGCAGGAGAA	NM_006218	NP_006209	178936091	P42336	PK3CA_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	A	A	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		Missense_Mutation	545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.			
PIK3CA	0	broad.mit.edu	GRCh37	3	178916876	178916876	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs121913287		TCGA-06-6391-01	TCGA-06-6391-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263967.3:c.263G>A	p.Arg88Gln	p.R88Q	ENST00000263967	NM_006218.2	88	cGa/cAa	0			1			A	R/Q	uc003fjk.2	protein_coding	YES	CCDS43171.1	R88Q(SKUT1_SOFT_TISSUE)|R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SNGM_ENDOMETRIUM)	57	263/3207	Mis				colorectal|gastric|gliobastoma|breast			p.R88Q(26)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	c.(262-264)CGA>CAA			PROSITE_profiles:PS51544,hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,Pfam_domain:PF02192,Gene3D:3.10.20.90,SMART_domains:SM00143	phosphoinositide-3-kinase, catalytic, alpha				ENSP00000263967		21-Feb									rs121913287,COSM746,COSM271684	21-Feb	.		ENST00000263967	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	ENSG00000121879	g.chr3:178916876G>A	8975			MODERATE		2.195	medium	getma.org/?cm=msa&ty=f&p=PK3CA_HUMAN&rb=31&re=108&var=R88Q	getma.org/pdb.php?prot=PK3CA_HUMAN&from=31&to=108&var=R88Q	getma.org/?cm=var&var=hg19,3,178916876,G,A&fts=all	R88Q	--	--	1				HNSCC(19;0.045)|TSP Lung(28;0.18)																															0,1,1	1		probably_damaging(0.998)	p.R88Q	NM_006218	NP_006209		tolerated(0.06)	0,1,1	PK3CA_HUMAN	PIK3CA	HGNC	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN		2	420	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		UPI000013D494	88		R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).	PI3K-ABD.		SNV	PIK3CA,missense_variant,p.Arg88Gln,ENST00000263967,NM_006218.2;PIK3CA,missense_variant,p.Arg88Gln,ENST00000468036,;PIK3CA,downstream_gene_variant,,ENST00000477735,;	uc003fjk.2	c.263G>A	420/9093	1	1	R88Q(SKUT1_SOFT_TISSUE)|R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SNGM_ENDOMETRIUM)	57	c.263G>A	Mis				colorectal|gastric|gliobastoma|breast	3	SNP	c.(262-264)CGA>CAA	61	61		p.R88Q(26)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	Broad	phosphoinositide-3-kinase, catalytic, alpha			178916876		0.363	ENSG00000121879	11716	g.chr3:178916876G>A	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	Colon(199;1504 1750 3362 26421 31210 32040)	p.R88Q(JHUEM1-Tumor)|p.R88Q(SNGM-Tumor)|p.R88Q(HT115-Tumor)|p.R88Q(SKUT1-Tumor)	621	Colon(199;1504 1750 3362 26421 31210 32040)	p.R88Q(JHUEM1-Tumor)|p.R88Q(SNGM-Tumor)|p.R88Q(HT115-Tumor)|p.R88Q(SKUT1-Tumor)	621	424.486213	KEEP	77	70	-1	65	79	77	70	-1	424.493668	65	79	0.505747	1	0	0	0	0	1	0	0	0	--	--	HNSCC(19;0.045)|TSP Lung(28;0.18)	0	A				107	GBM-06-6391-TP	p.R88Q	G	GAAACAAGACGACTTTGTGAC	NM_006218	NP_006209	178916876	P42336	PK3CA_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	420	+	A	A	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		Missense_Mutation	88		R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).	PI3K-ABD.			
PIK3CA	0	broad.mit.edu	GRCh37	3	178916876	178916876	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs121913287		TCGA-12-5301-01	TCGA-12-5301-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263967.3:c.263G>A	p.Arg88Gln	p.R88Q	ENST00000263967	NM_006218.2	88	cGa/cAa	0			1			A	R/Q	uc003fjk.2	protein_coding	YES	CCDS43171.1	R88Q(SKUT1_SOFT_TISSUE)|R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SNGM_ENDOMETRIUM)	57	263/3207	Mis				colorectal|gastric|gliobastoma|breast			p.R88Q(26)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	c.(262-264)CGA>CAA			PROSITE_profiles:PS51544,hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,Pfam_domain:PF02192,Gene3D:3.10.20.90,SMART_domains:SM00143	phosphoinositide-3-kinase, catalytic, alpha				ENSP00000263967		21-Feb									rs121913287,COSM746,COSM271684	21-Feb	.		ENST00000263967	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	ENSG00000121879	g.chr3:178916876G>A	8975			MODERATE		2.195	medium	getma.org/?cm=msa&ty=f&p=PK3CA_HUMAN&rb=31&re=108&var=R88Q	getma.org/pdb.php?prot=PK3CA_HUMAN&from=31&to=108&var=R88Q	getma.org/?cm=var&var=hg19,3,178916876,G,A&fts=all	R88Q	--	--	1				HNSCC(19;0.045)|TSP Lung(28;0.18)																															0,1,1	1		probably_damaging(0.998)	p.R88Q	NM_006218	NP_006209		tolerated(0.06)	0,1,1	PK3CA_HUMAN	PIK3CA	HGNC	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN		2	420	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		UPI000013D494	88		R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).	PI3K-ABD.		SNV	PIK3CA,missense_variant,p.Arg88Gln,ENST00000263967,NM_006218.2;PIK3CA,missense_variant,p.Arg88Gln,ENST00000468036,;PIK3CA,downstream_gene_variant,,ENST00000477735,;	uc003fjk.2	c.263G>A	420/9093	1	1	R88Q(SKUT1_SOFT_TISSUE)|R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SNGM_ENDOMETRIUM)	57	c.263G>A	Mis				colorectal|gastric|gliobastoma|breast	3	SNP	c.(262-264)CGA>CAA	61	61		p.R88Q(26)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	Broad	phosphoinositide-3-kinase, catalytic, alpha			178916876		0.363	ENSG00000121879	11716	g.chr3:178916876G>A	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	Colon(199;1504 1750 3362 26421 31210 32040)	p.R88Q(JHUEM1-Tumor)|p.R88Q(SNGM-Tumor)|p.R88Q(HT115-Tumor)|p.R88Q(SKUT1-Tumor)	621	Colon(199;1504 1750 3362 26421 31210 32040)	p.R88Q(JHUEM1-Tumor)|p.R88Q(SNGM-Tumor)|p.R88Q(HT115-Tumor)|p.R88Q(SKUT1-Tumor)	621	264.786471	KEEP	37	64	-1	68	65	37	64	-1	265.469161	68	65	0.439815	1	0	0	0	0	1	0	0	0	--	--	HNSCC(19;0.045)|TSP Lung(28;0.18)	0	A				131	GBM-12-5301-TP	p.R88Q	G	GAAACAAGACGACTTTGTGAC	NM_006218	NP_006209	178916876	P42336	PK3CA_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	420	+	A	A	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		Missense_Mutation	88		R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).	PI3K-ABD.			
PIK3CA	0	broad.mit.edu	GRCh37	3	178916936	178916936	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263967.3:c.323G>A	p.Arg108His	p.R108H	ENST00000263967	NM_006218.2	108	cGt/cAt	0			1			A	R/H	uc003fjk.2	protein_coding	YES	CCDS43171.1		57	323/3207	Mis				colorectal|gastric|gliobastoma|breast			p.R108H(5)|p.G106_R108del(2)|p.R108P(1)|p.R108del(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	c.(322-324)CGT>CAT			hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,Pfam_domain:PF02192,Gene3D:3.10.20.90,SMART_domains:SM00143,Superfamily_domains:SSF54236	phosphoinositide-3-kinase, catalytic, alpha				ENSP00000263967		21-Feb									COSM27497,COSM342716	21-Feb	.		ENST00000263967	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	ENSG00000121879	g.chr3:178916936G>A	8975			MODERATE		1.975	medium	getma.org/?cm=msa&ty=f&p=PK3CA_HUMAN&rb=31&re=108&var=R108H	getma.org/pdb.php?prot=PK3CA_HUMAN&from=31&to=108&var=R108H	getma.org/?cm=var&var=hg19,3,178916936,G,A&fts=all	R108H	--	--	1				HNSCC(19;0.045)|TSP Lung(28;0.18)																															1,1	1		probably_damaging(0.983)	p.R108H	NM_006218	NP_006209		deleterious(0.03)	1,1	PK3CA_HUMAN	PIK3CA	HGNC	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN		2	480	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		UPI000013D494	108			PI3K-ABD.		SNV	PIK3CA,missense_variant,p.Arg108His,ENST00000263967,NM_006218.2;PIK3CA,missense_variant,p.Arg108His,ENST00000468036,;PIK3CA,downstream_gene_variant,,ENST00000477735,;	uc003fjk.2	c.323G>A	480/9093	1	1		57	c.323G>A	Mis				colorectal|gastric|gliobastoma|breast	3	SNP	c.(322-324)CGT>CAT	51	51		p.R108H(5)|p.G106_R108del(2)|p.R108P(1)|p.R108del(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	Broad	phosphoinositide-3-kinase, catalytic, alpha			178916936		0.338	ENSG00000121879	11716	g.chr3:178916936G>A	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	Colon(199;1504 1750 3362 26421 31210 32040)	p.R108H(HEC6-Tumor)|p.R108H(OC316-Tumor)	621	Colon(199;1504 1750 3362 26421 31210 32040)	p.R108H(HEC6-Tumor)|p.R108H(OC316-Tumor)	621	168.509123	KEEP	24	44	-1	44	54	24	44	-1	169.713061	44	54	0.405229	1	0	0	0	0	1	0	0	0	--	--	HNSCC(19;0.045)|TSP Lung(28;0.18)	0	A				131	GBM-12-5301-TP	p.R108H	G	GTAGGCAACCGTGAAGAAAAG	NM_006218	NP_006209	178916936	P42336	PK3CA_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	480	+	A	A	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		Missense_Mutation	108			PI3K-ABD.			
PIK3CA	0	broad.mit.edu	GRCh37	3	178916851	178916853	+	inframe_deletion	In_Frame_Del	DEL	GAA	GAA	-			TCGA-15-0742-01	TCGA-15-0742-01	GAA	GAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263967.3:c.241_243delGAA	p.Glu81del	p.E81del	ENST00000263967	NM_006218.2	80	GAA/-	0			1			-	E/-	uc003fjk.2	protein_coding	YES	CCDS43171.1		57	238-240/3207	Mis				colorectal|gastric|gliobastoma|breast			p.E81K(2)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	c.(238-240)GAAdel			PROSITE_profiles:PS51544,hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,Pfam_domain:PF02192,Gene3D:3.10.20.90,SMART_domains:SM00143	phosphoinositide-3-kinase, catalytic, alpha				ENSP00000263967		21-Feb										21-Feb	.		ENST00000263967	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	ENSG00000121879	g.chr3:178916851_178916853delGAA	8975	3		MODERATE								--	--	1				HNSCC(19;0.045)|TSP Lung(28;0.18)																																1			p.E81del	NM_006218	NP_006209				PK3CA_HUMAN	PIK3CA	HGNC	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN		2	395_397	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		UPI000013D494	81			PI3K-ABD.		deletion	PIK3CA,inframe_deletion,p.Glu81del,ENST00000263967,NM_006218.2;PIK3CA,inframe_deletion,p.Glu81del,ENST00000468036,;PIK3CA,downstream_gene_variant,,ENST00000477735,;	uc003fjk.2	c.238_240delGAA	395-397/9093	5	5		57	c.238_240delGAA	Mis				colorectal|gastric|gliobastoma|breast	3	DEL	c.(238-240)GAAdel	63	63		p.E81K(2)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	Broad	phosphoinositide-3-kinase, catalytic, alpha			178916853		0.365	ENSG00000121879	11716	g.chr3:178916851_178916853delGAA	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	Colon(199;1504 1750 3362 26421 31210 32040)		621	Colon(199;1504 1750 3362 26421 31210 32040)		621														0.41	1	1	0	1	0	0	0	0	0	--	--	HNSCC(19;0.045)|TSP Lung(28;0.18)	0	-				153	GBM-15-0742-TP	p.E81del	GAA	AGCAGAAAGGGAAGAATTTTTTG	NM_006218	NP_006209	178916851	P42336	PK3CA_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	395_397	+	-	-	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		In_Frame_Del	81			PI3K-ABD.			
PIK3CA	0	broad.mit.edu	GRCh37	3	178928108	178928127	+	splice_donor_variant,coding_sequence_variant	Splice_Site	DEL	TGGATCAAATCCAAATAAAG	TGGATCAAATCCAAATAAAG	-			TCGA-19-1790-01	TCGA-19-1790-01	TGGATCAAATCCAAATAAAG	TGGATCAAATCCAAATAAAG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263967.3:c.1387_1404+2delGGATCAAATCCAAATAAAGT		p.X463_splice	ENST00000263967	NM_006218.2	462		0			1			-		uc003fjk.2	protein_coding	YES	CCDS43171.1		57	1386-?/3207	Mis				colorectal|gastric|gliobastoma|breast				breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	c.e8+1				phosphoinositide-3-kinase, catalytic, alpha				ENSP00000263967		21-Aug										21-Aug	.		ENST00000263967	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	ENSG00000121879	g.chr3:178928108_178928127delTGGATCAAATCCAAATAAAG	8975	1		HIGH	20-Aug							--	--	1				HNSCC(19;0.045)|TSP Lung(28;0.18)																																1			p.K468_splice	NM_006218	NP_006209				PK3CA_HUMAN	PIK3CA	HGNC	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN		8	1561	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		UPI000013D494						deletion	PIK3CA,splice_donor_variant,,ENST00000263967,NM_006218.2;	uc003fjk.2	c.1404_splice	1543-?/9093	5	5		57	c.1404_splice	Mis				colorectal|gastric|gliobastoma|breast	3	DEL	c.e8+1	59	59			breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	Broad	phosphoinositide-3-kinase, catalytic, alpha			178928127		0.332	ENSG00000121879	11716	g.chr3:178928108_178928127delTGGATCAAATCCAAATAAAG	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	Colon(199;1504 1750 3362 26421 31210 32040)		621	Colon(199;1504 1750 3362 26421 31210 32040)		621														0.07	1	1	0	1	0	0	0	0	1	--	--	HNSCC(19;0.045)|TSP Lung(28;0.18)	0	-				160	GBM-19-1790-TP	p.K468_splice	TGGATCAAATCCAAATAAAG	TTGGTGTTACTGGATCAAATCCAAATAAAGTAAGGTTTTT	NM_006218	NP_006209	178928108	P42336	PK3CA_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		8	1561	+	-	-	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		Splice_Site							
PIK3CA	0	broad.mit.edu	GRCh37	3	178921548	178921548	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5947-01	TCGA-19-5947-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263967.3:c.1030G>A	p.Val344Met	p.V344M	ENST00000263967	NM_006218.2	344	Gtg/Atg	0			1			A	V/M	uc003fjk.2	protein_coding	YES	CCDS43171.1		57	1030/3207	Mis				colorectal|gastric|gliobastoma|breast			p.V344A(1)|p.V344G(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	c.(1030-1032)GTG>ATG			PROSITE_profiles:PS51547,hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,Gene3D:2.60.40.150,SMART_domains:SM00142,Superfamily_domains:SSF49562	phosphoinositide-3-kinase, catalytic, alpha				ENSP00000263967		21-May									COSM253279,COSM253280	21-May	.		ENST00000263967	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	ENSG00000121879	g.chr3:178921548G>A	8975			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=PK3CA_HUMAN&rb=330&re=487&var=V344M	getma.org/pdb.php?prot=PK3CA_HUMAN&from=330&to=487&var=V344M	getma.org/?cm=var&var=hg19,3,178921548,G,A&fts=all	V344M	--	--	1				HNSCC(19;0.045)|TSP Lung(28;0.18)																															1,1	1		probably_damaging(0.987)	p.V344M	NM_006218	NP_006209		deleterious(0)	1,1	PK3CA_HUMAN	PIK3CA	HGNC	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN		5	1187	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		UPI000013D494	344					SNV	PIK3CA,missense_variant,p.Val344Met,ENST00000263967,NM_006218.2;PIK3CA,downstream_gene_variant,,ENST00000468036,;PIK3CA,downstream_gene_variant,,ENST00000477735,;	uc003fjk.2	c.1030G>A	1187/9093	2	2		57	c.1030G>A	Mis				colorectal|gastric|gliobastoma|breast	3	SNP	c.(1030-1032)GTG>ATG	28	28		p.V344A(1)|p.V344G(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	Broad	phosphoinositide-3-kinase, catalytic, alpha			178921548		0.308	ENSG00000121879	11716	g.chr3:178921548G>A	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	Colon(199;1504 1750 3362 26421 31210 32040)	p.V344M(SKMES1-Tumor)	621	Colon(199;1504 1750 3362 26421 31210 32040)	p.V344M(SKMES1-Tumor)	621	63.090608	KEEP	18	15	-1	39	57	18	15	-1	70.082835	39	57	0.236364	1	0	0	0	0	1	0	0	0	--	--	HNSCC(19;0.045)|TSP Lung(28;0.18)	0	A				169	GBM-19-5947-TP	p.V344M	G	TGCAACCTACGTGAATGTAAA	NM_006218	NP_006209	178921548	P42336	PK3CA_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		5	1187	+	A	A	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		Missense_Mutation	344						
PIK3CA	0	broad.mit.edu	GRCh37	3	178916945	178916945	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-5954-01	TCGA-19-5954-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263967.3:c.332A>G	p.Lys111Arg	p.K111R	ENST00000263967	NM_006218.2	111	aAg/aGg	0			1			G	K/R	uc003fjk.2	protein_coding	YES	CCDS43171.1		57	332/3207	Mis				colorectal|gastric|gliobastoma|breast			p.K111N(10)|p.K111E(7)|p.K111R(1)|p.K111del(1)|p.K111_I112>N(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	c.(331-333)AAG>AGG			hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,Gene3D:3.10.20.90,Superfamily_domains:SSF54236	phosphoinositide-3-kinase, catalytic, alpha				ENSP00000263967		21-Feb									COSM14052,COSM1420751	21-Feb	.		ENST00000263967	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	ENSG00000121879	g.chr3:178916945A>G	8975			MODERATE		2.42	medium	getma.org/?cm=msa&ty=f&p=PK3CA_HUMAN&rb=109&re=172&var=K111R	getma.org/pdb.php?prot=PK3CA_HUMAN&from=109&to=172&var=K111R	getma.org/?cm=var&var=hg19,3,178916945,A,G&fts=all	K111R	--	--	1				HNSCC(19;0.045)|TSP Lung(28;0.18)																															1,1	1		probably_damaging(0.989)	p.K111R	NM_006218	NP_006209		deleterious(0.01)	1,1	PK3CA_HUMAN	PIK3CA	HGNC	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN		2	489	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		UPI000013D494	111					SNV	PIK3CA,missense_variant,p.Lys111Arg,ENST00000263967,NM_006218.2;PIK3CA,missense_variant,p.Lys111Arg,ENST00000468036,;PIK3CA,downstream_gene_variant,,ENST00000477735,;	uc003fjk.2	c.332A>G	489/9093	3	3		57	c.332A>G	Mis				colorectal|gastric|gliobastoma|breast	3	SNP	c.(331-333)AAG>AGG	59	59		p.K111N(10)|p.K111E(7)|p.K111R(1)|p.K111del(1)|p.K111_I112>N(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	Broad	phosphoinositide-3-kinase, catalytic, alpha			178916945		0.333	ENSG00000121879	11716	g.chr3:178916945A>G	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	Colon(199;1504 1750 3362 26421 31210 32040)	p.K111R(NCIH1048-Tumor)	621	Colon(199;1504 1750 3362 26421 31210 32040)	p.K111R(NCIH1048-Tumor)	621	105.229173	KEEP	17	19	-1	41	50	17	19	-1	109.757125	41	50	0.289474	1	0	0	0	0	1	0	0	0	--	--	HNSCC(19;0.045)|TSP Lung(28;0.18)	0	G				174	GBM-19-5954-TP	p.K111R	A	CGTGAAGAAAAGATCCTCAAT	NM_006218	NP_006209	178916945	P42336	PK3CA_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	489	+	G	G	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		Missense_Mutation	111						
PIK3CA	0	broad.mit.edu	GRCh37	3	178936091	178936091	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-27-1838-01	TCGA-27-1838-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263967.3:c.1633G>A	p.Glu545Lys	p.E545K	ENST00000263967	NM_006218.2	545	Gag/Aag	0			1			A	E/K	uc003fjk.2	protein_coding	YES	CCDS43171.1	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	1633/3207	Mis				colorectal|gastric|gliobastoma|breast	not_provided,pathogenic		p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	c.(1633-1635)GAG>AAG			PROSITE_profiles:PS51545,hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,Pfam_domain:PF00613,Gene3D:1.25.40.70,SMART_domains:SM00145,Superfamily_domains:SSF48371	phosphoinositide-3-kinase, catalytic, alpha				ENSP00000263967		21-Oct									rs104886003,COSM763,COSM125370	21-Oct	.		ENST00000263967	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	ENSG00000121879	g.chr3:178936091G>A	8975			MODERATE		1.62	low	getma.org/?cm=msa&ty=f&p=PK3CA_HUMAN&rb=519&re=704&var=E545K	getma.org/pdb.php?prot=PK3CA_HUMAN&from=519&to=704&var=E545K	getma.org/?cm=var&var=hg19,3,178936091,G,A&fts=all	E545K	--	--	1				HNSCC(19;0.045)|TSP Lung(28;0.18)																															1,1,1	1	21264207	probably_damaging(0.959)	p.E545K	NM_006218	NP_006209		deleterious(0.02)	0,1,1	PK3CA_HUMAN	PIK3CA	HGNC	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		UPI000013D494	545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		SNV	PIK3CA,missense_variant,p.Glu545Lys,ENST00000263967,NM_006218.2;PIK3CA,upstream_gene_variant,,ENST00000462255,;	uc003fjk.2	c.1633G>A	1790/9093	1	1	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	c.1633G>A	Mis				colorectal|gastric|gliobastoma|breast	3	SNP	c.(1633-1635)GAG>AAG	60	60		p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	Broad	phosphoinositide-3-kinase, catalytic, alpha			178936091		0.353	ENSG00000121879	11716	g.chr3:178936091G>A	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	Colon(199;1504 1750 3362 26421 31210 32040)	p.E545K(NCIH508-Tumor)|p.E545K(L363-Tumor)|p.E545K(KYSE510-Tumor)|p.E545K(MKN1-Tumor)|p.E545K(BFTC909-Tumor)|p.E545K(NCIH460-Tumor)|p.E545K(HCC202-Tumor)|p.E545K(KPL1-Tumor)|p.E545K(NCIH596-Tumor)|p.E545K(HUH28-Tumor)|p.E545K(MDAMB361-Tumor)|p.E545K(ESS1-Tumor)|p.E545K(TE5-Tumor)|p.E545K(HSC4-Tumor)|p.E545K(RERFLCSQ1-Tumor)	621	Colon(199;1504 1750 3362 26421 31210 32040)	p.E545K(NCIH508-Tumor)|p.E545K(L363-Tumor)|p.E545K(KYSE510-Tumor)|p.E545K(MKN1-Tumor)|p.E545K(BFTC909-Tumor)|p.E545K(NCIH460-Tumor)|p.E545K(HCC202-Tumor)|p.E545K(KPL1-Tumor)|p.E545K(NCIH596-Tumor)|p.E545K(HUH28-Tumor)|p.E545K(MDAMB361-Tumor)|p.E545K(ESS1-Tumor)|p.E545K(TE5-Tumor)|p.E545K(HSC4-Tumor)|p.E545K(RERFLCSQ1-Tumor)	621	23.145419	KEEP	10	7	-1	57	46	10	7	-1	36.527378	57	46	0.140187	1	0	0	0	0	1	0	0	0	--	--	HNSCC(19;0.045)|TSP Lung(28;0.18)	0	A				197	GBM-27-1838-TP	p.E545K	G	TGAAATCACTGAGCAGGAGAA	NM_006218	NP_006209	178936091	P42336	PK3CA_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	A	A	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		Missense_Mutation	545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.			
PIK3CA	0	broad.mit.edu	GRCh37	3	178952085	178952085	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-27-2527-01	TCGA-27-2527-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263967.3:c.3140A>G	p.His1047Arg	p.H1047R	ENST00000263967	NM_006218.2	1047	cAt/cGt	0			1			G	H/R	uc003fjk.2	protein_coding	YES	CCDS43171.1	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57	3140/3207	Mis				colorectal|gastric|gliobastoma|breast	pathogenic		p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	c.(3139-3141)CAT>CGT			PROSITE_profiles:PS50290,hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,Gene3D:1.10.1070.11,SMART_domains:SM00146,Superfamily_domains:SSF56112	phosphoinositide-3-kinase, catalytic, alpha				ENSP00000263967		21/21									rs121913279,COSM775,COSM94986	21/21	.		ENST00000263967	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	ENSG00000121879	g.chr3:178952085A>G	8975			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=PK3CA_HUMAN&rb=797&re=1068&var=H1047R	getma.org/pdb.php?prot=PK3CA_HUMAN&from=797&to=1068&var=H1047R	getma.org/?cm=var&var=hg19,3,178952085,A,G&fts=all	H1047R	--	--	1				HNSCC(19;0.045)|TSP Lung(28;0.18)																															1,1,1	1	25710561	possibly_damaging(0.529)	p.H1047R	NM_006218	NP_006209		tolerated(0.11)	0,1,1	PK3CA_HUMAN	PIK3CA	HGNC	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		UPI000013D494	1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		SNV	PIK3CA,missense_variant,p.His1047Arg,ENST00000263967,NM_006218.2;RP11-245C23.3,downstream_gene_variant,,ENST00000609807,;	uc003fjk.2	c.3140A>G	3297/9093	3	3	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57	c.3140A>G	Mis				colorectal|gastric|gliobastoma|breast	3	SNP	c.(3139-3141)CAT>CGT	16	16		p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	Broad	phosphoinositide-3-kinase, catalytic, alpha			178952085		0.378	ENSG00000121879	11716	g.chr3:178952085A>G	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	Colon(199;1504 1750 3362 26421 31210 32040)	p.H1047R(LS180-Tumor)|p.H1047R(UACC893-Tumor)|p.H1047R(HSC2-Tumor)|p.H1047R(BT20-Tumor)|p.H1047R(SKOV3-Tumor)|p.H1047L(GP2D-Tumor)|p.H1047R(T47D-Tumor)|p.H1047R(SNU840-Tumor)|p.H1047R(CAL148-Tumor)|p.H1047R(HCT116-Tumor)|p.H1047R(SNUC5-Tumor)|p.H1047R(MCAS-Tumor)|p.H1047R(SNU1076-Tumor)|p.H1047R(HCC1954-Tumor)|p.H1047L(OAW42-Tumor)|p.H1047L(EFM19-Tumor)|p.H1047R(RKO-Tumor)|p.H1047R(CAL29-Tumor)|p.H1047R(CAL33-Tumor)|p.H1047R(MDAMB453-Tumor)|p.H1047R(NCIH1048-Tumor)|p.H1047R(SNU407-Tumor)	621	Colon(199;1504 1750 3362 26421 31210 32040)	p.H1047R(LS180-Tumor)|p.H1047R(UACC893-Tumor)|p.H1047R(HSC2-Tumor)|p.H1047R(BT20-Tumor)|p.H1047R(SKOV3-Tumor)|p.H1047L(GP2D-Tumor)|p.H1047R(T47D-Tumor)|p.H1047R(SNU840-Tumor)|p.H1047R(CAL148-Tumor)|p.H1047R(HCT116-Tumor)|p.H1047R(SNUC5-Tumor)|p.H1047R(MCAS-Tumor)|p.H1047R(SNU1076-Tumor)|p.H1047R(HCC1954-Tumor)|p.H1047L(OAW42-Tumor)|p.H1047L(EFM19-Tumor)|p.H1047R(RKO-Tumor)|p.H1047R(CAL29-Tumor)|p.H1047R(CAL33-Tumor)|p.H1047R(MDAMB453-Tumor)|p.H1047R(NCIH1048-Tumor)|p.H1047R(SNU407-Tumor)	621	8.471402	KEEP	5	7	-1	50	51	5	7	-1	25.478876	50	51	0.096154	1	0	0	0	0	1	0	0	0	--	--	HNSCC(19;0.045)|TSP Lung(28;0.18)	0	G				204	GBM-27-2527-TP	p.H1047R	A	AATGATGCACATCATGGTGGC	NM_006218	NP_006209	178952085	P42336	PK3CA_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3297	+	G	G	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		Missense_Mutation	1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.			
PIK3CA	0	broad.mit.edu	GRCh37	3	178952152	178952152	+	stop_lost	Nonstop_Mutation	SNP	A	A	G			TCGA-32-1979-01	TCGA-32-1979-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263967.3:c.3207A>G	p.Ter1069TrpextTer4	p.*1069Wext*4	ENST00000263967	NM_006218.2	1069	tgA/tgG	0			1			G	*/W	uc003fjk.2	protein_coding	YES	CCDS43171.1		57	3207/3207	Mis				colorectal|gastric|gliobastoma|breast			p.*1069_*1069insWKDN*(3)|p.*1069fs*3(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	c.(3205-3207)TGA>TGG				phosphoinositide-3-kinase, catalytic, alpha				ENSP00000263967		21/21									COSM17449,COSM1177856	21/21	.		ENST00000263967	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	ENSG00000121879	g.chr3:178952152A>G	8975			HIGH								--	--	1				HNSCC(19;0.045)|TSP Lung(28;0.18)																															1,1	1			p.*1069W	NM_006218	NP_006209			1,1	PK3CA_HUMAN	PIK3CA	HGNC	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN		21	3364	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		UPI000013D494	1069					SNV	PIK3CA,stop_lost,p.Ter1069TrpextTer4,ENST00000263967,NM_006218.2;RP11-245C23.3,downstream_gene_variant,,ENST00000609807,;	uc003fjk.2	c.3207A>G	3364/9093	5	3		57	c.3207A>G	Mis				colorectal|gastric|gliobastoma|breast	3	SNP	c.(3205-3207)TGA>TGG	3	3		p.*1069_*1069insWKDN*(3)|p.*1069fs*3(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	Broad	phosphoinositide-3-kinase, catalytic, alpha			178952152		0.393	ENSG00000121879	11716	g.chr3:178952152A>G	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	Colon(199;1504 1750 3362 26421 31210 32040)	p.*1069W(IGROV1-Tumor)|p.*1069W(KYSE70-Tumor)	621	Colon(199;1504 1750 3362 26421 31210 32040)	p.*1069W(IGROV1-Tumor)|p.*1069W(KYSE70-Tumor)	621	20.54577	KEEP	2	5	-1	5	9	2	5	-1	20.869614	5	9	0.352941	1	0	0	0	0	0	0	0	0	--	--	HNSCC(19;0.045)|TSP Lung(28;0.18)	0	G				230	GBM-32-1979-TP	p.*1069W	A	CATTGAACTGAAAAGATAACT	NM_006218	NP_006209	178952152	P42336	PK3CA_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3364	+	G	G	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		Nonstop_Mutation	1069						
PIK3CA	0	broad.mit.edu	GRCh37	3	178952072	178952072	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-2491-01	TCGA-32-2491-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263967.3:c.3127A>G	p.Met1043Val	p.M1043V	ENST00000263967	NM_006218.2	1043	Atg/Gtg	0			1			G	M/V	uc003fjk.2	protein_coding	YES	CCDS43171.1		57	3127/3207	Mis				colorectal|gastric|gliobastoma|breast			p.M1043I(31)|p.M1043V(15)|p.M1043T(3)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	c.(3127-3129)ATG>GTG			PROSITE_profiles:PS50290,hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,Gene3D:1.10.1070.11,SMART_domains:SM00146,Superfamily_domains:SSF56112	phosphoinositide-3-kinase, catalytic, alpha				ENSP00000263967		21/21									COSM12591,COSM94983	21/21	.		ENST00000263967	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	ENSG00000121879	g.chr3:178952072A>G	8975			MODERATE		-0.485	neutral	getma.org/?cm=msa&ty=f&p=PK3CA_HUMAN&rb=797&re=1068&var=M1043V	getma.org/pdb.php?prot=PK3CA_HUMAN&from=797&to=1068&var=M1043V	getma.org/?cm=var&var=hg19,3,178952072,A,G&fts=all	M1043V	--	--	1				HNSCC(19;0.045)|TSP Lung(28;0.18)																															1,1	1		benign(0.037)	p.M1043V	NM_006218	NP_006209		tolerated(0.06)	1,1	PK3CA_HUMAN	PIK3CA	HGNC	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN		21	3284	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		UPI000013D494	1043		M -> I (in cancer; shows an increase in lipid kinase activity).	PI3K/PI4K.		SNV	PIK3CA,missense_variant,p.Met1043Val,ENST00000263967,NM_006218.2;RP11-245C23.3,downstream_gene_variant,,ENST00000609807,;	uc003fjk.2	c.3127A>G	3284/9093	4	4		57	c.3127A>G	Mis				colorectal|gastric|gliobastoma|breast	3	SNP	c.(3127-3129)ATG>GTG	18	18		p.M1043I(31)|p.M1043V(15)|p.M1043T(3)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	Broad	phosphoinositide-3-kinase, catalytic, alpha			178952072		0.368	ENSG00000121879	11716	g.chr3:178952072A>G	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	Colon(199;1504 1750 3362 26421 31210 32040)		621	Colon(199;1504 1750 3362 26421 31210 32040)		621	81.441808	KEEP	14	12	-1	34	35	14	12	-1	84.968203	34	35	0.287356	1	0	0	0	0	1	0	0	0	--	--	HNSCC(19;0.045)|TSP Lung(28;0.18)	0	G				235	GBM-32-2491-TP	p.M1043V	A	CATGAAACAAATGAATGATGC	NM_006218	NP_006209	178952072	P42336	PK3CA_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3284	+	G	G	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		Missense_Mutation	1043		M -> I (in cancer; shows an increase in lipid kinase activity).	PI3K/PI4K.			
PIK3CA	0	broad.mit.edu	GRCh37	3	178952085	178952085	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-41-2572-01	TCGA-41-2572-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263967.3:c.3140A>G	p.His1047Arg	p.H1047R	ENST00000263967	NM_006218.2	1047	cAt/cGt	0			1			G	H/R	uc003fjk.2	protein_coding	YES	CCDS43171.1	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57	3140/3207	Mis				colorectal|gastric|gliobastoma|breast	pathogenic		p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	c.(3139-3141)CAT>CGT			PROSITE_profiles:PS50290,hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,Gene3D:1.10.1070.11,SMART_domains:SM00146,Superfamily_domains:SSF56112	phosphoinositide-3-kinase, catalytic, alpha				ENSP00000263967		21/21									rs121913279,COSM775,COSM94986	21/21	.		ENST00000263967	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	ENSG00000121879	g.chr3:178952085A>G	8975			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=PK3CA_HUMAN&rb=797&re=1068&var=H1047R	getma.org/pdb.php?prot=PK3CA_HUMAN&from=797&to=1068&var=H1047R	getma.org/?cm=var&var=hg19,3,178952085,A,G&fts=all	H1047R	--	--	1				HNSCC(19;0.045)|TSP Lung(28;0.18)																															1,1,1	1	25710561	possibly_damaging(0.529)	p.H1047R	NM_006218	NP_006209		tolerated(0.11)	0,1,1	PK3CA_HUMAN	PIK3CA	HGNC	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		UPI000013D494	1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		SNV	PIK3CA,missense_variant,p.His1047Arg,ENST00000263967,NM_006218.2;RP11-245C23.3,downstream_gene_variant,,ENST00000609807,;	uc003fjk.2	c.3140A>G	3297/9093	3	3	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57	c.3140A>G	Mis				colorectal|gastric|gliobastoma|breast	3	SNP	c.(3139-3141)CAT>CGT	16	16		p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	Broad	phosphoinositide-3-kinase, catalytic, alpha			178952085		0.378	ENSG00000121879	11716	g.chr3:178952085A>G	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	Colon(199;1504 1750 3362 26421 31210 32040)	p.H1047R(LS180-Tumor)|p.H1047R(UACC893-Tumor)|p.H1047R(HSC2-Tumor)|p.H1047R(BT20-Tumor)|p.H1047R(SKOV3-Tumor)|p.H1047L(GP2D-Tumor)|p.H1047R(T47D-Tumor)|p.H1047R(SNU840-Tumor)|p.H1047R(CAL148-Tumor)|p.H1047R(HCT116-Tumor)|p.H1047R(SNUC5-Tumor)|p.H1047R(MCAS-Tumor)|p.H1047R(SNU1076-Tumor)|p.H1047R(HCC1954-Tumor)|p.H1047L(OAW42-Tumor)|p.H1047L(EFM19-Tumor)|p.H1047R(RKO-Tumor)|p.H1047R(CAL29-Tumor)|p.H1047R(CAL33-Tumor)|p.H1047R(MDAMB453-Tumor)|p.H1047R(NCIH1048-Tumor)|p.H1047R(SNU407-Tumor)	621	Colon(199;1504 1750 3362 26421 31210 32040)	p.H1047R(LS180-Tumor)|p.H1047R(UACC893-Tumor)|p.H1047R(HSC2-Tumor)|p.H1047R(BT20-Tumor)|p.H1047R(SKOV3-Tumor)|p.H1047L(GP2D-Tumor)|p.H1047R(T47D-Tumor)|p.H1047R(SNU840-Tumor)|p.H1047R(CAL148-Tumor)|p.H1047R(HCT116-Tumor)|p.H1047R(SNUC5-Tumor)|p.H1047R(MCAS-Tumor)|p.H1047R(SNU1076-Tumor)|p.H1047R(HCC1954-Tumor)|p.H1047L(OAW42-Tumor)|p.H1047L(EFM19-Tumor)|p.H1047R(RKO-Tumor)|p.H1047R(CAL29-Tumor)|p.H1047R(CAL33-Tumor)|p.H1047R(MDAMB453-Tumor)|p.H1047R(NCIH1048-Tumor)|p.H1047R(SNU407-Tumor)	621	238.528294	KEEP	34	51	-1	41	69	34	51	-1	239.314784	41	69	0.427746	1	0	0	0	0	1	0	0	0	--	--	HNSCC(19;0.045)|TSP Lung(28;0.18)	0	G				251	GBM-41-2572-TP	p.H1047R	A	AATGATGCACATCATGGTGGC	NM_006218	NP_006209	178952085	P42336	PK3CA_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3297	+	G	G	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		Missense_Mutation	1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.			
PIK3CA	0	broad.mit.edu	GRCh37	3	178916881	178916881	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-41-5651-01	TCGA-41-5651-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263967.3:c.268T>G	p.Cys90Gly	p.C90G	ENST00000263967	NM_006218.2	90	Tgt/Ggt	0			1			G	C/G	uc003fjk.2	protein_coding	YES	CCDS43171.1		57	268/3207	Mis				colorectal|gastric|gliobastoma|breast				breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	c.(268-270)TGT>GGT			PROSITE_profiles:PS51544,hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,Pfam_domain:PF02192,Gene3D:3.10.20.90,SMART_domains:SM00143	phosphoinositide-3-kinase, catalytic, alpha				ENSP00000263967		21-Feb									COSM3408448,COSM3408447	21-Feb	.		ENST00000263967	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	ENSG00000121879	g.chr3:178916881T>G	8975			MODERATE		2.495	medium	getma.org/?cm=msa&ty=f&p=PK3CA_HUMAN&rb=31&re=108&var=C90G	getma.org/pdb.php?prot=PK3CA_HUMAN&from=31&to=108&var=C90G	getma.org/?cm=var&var=hg19,3,178916881,T,G&fts=all	C90G	--	--	1				HNSCC(19;0.045)|TSP Lung(28;0.18)																															1,1	1		probably_damaging(1)	p.C90G	NM_006218	NP_006209		deleterious(0.01)	1,1	PK3CA_HUMAN	PIK3CA	HGNC	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN		2	425	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		UPI000013D494	90			PI3K-ABD.		SNV	PIK3CA,missense_variant,p.Cys90Gly,ENST00000263967,NM_006218.2;PIK3CA,missense_variant,p.Cys90Gly,ENST00000468036,;PIK3CA,downstream_gene_variant,,ENST00000477735,;	uc003fjk.2	c.268T>G	425/9093	3	3		57	c.268T>G	Mis				colorectal|gastric|gliobastoma|breast	3	SNP	c.(268-270)TGT>GGT	49	49			breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	Broad	phosphoinositide-3-kinase, catalytic, alpha			178916881		0.373	ENSG00000121879	11716	g.chr3:178916881T>G	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	Colon(199;1504 1750 3362 26421 31210 32040)		621	Colon(199;1504 1750 3362 26421 31210 32040)		621	120.745486	KEEP	24	17	-1	44	29	24	17	-1	122.23135	44	29	0.37	1	0	0	0	0	1	0	0	0	--	--	HNSCC(19;0.045)|TSP Lung(28;0.18)	0	G				258	GBM-41-5651-TP	p.C90G	T	AAGACGACTTTGTGACCTTCG	NM_006218	NP_006209	178916881	P42336	PK3CA_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	425	+	G	G	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		Missense_Mutation	90			PI3K-ABD.			
PIK3CA	0	broad.mit.edu	GRCh37	3	178938803	178938803	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-76-6193-01	TCGA-76-6193-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263967.3:c.2045delA	p.Gln682ArgfsTer18	p.Q682Rfs*18	ENST00000263967	NM_006218.2	682	cAg/cg	0			1			-	Q/X	uc003fjk.2	protein_coding	YES	CCDS43171.1		57	2045/3207	Mis				colorectal|gastric|gliobastoma|breast				breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	c.(2044-2046)CAGfs			PROSITE_profiles:PS51545,hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,Pfam_domain:PF00613,Gene3D:1.25.40.70,SMART_domains:SM00145,Superfamily_domains:SSF48371	phosphoinositide-3-kinase, catalytic, alpha				ENSP00000263967		14/21										14/21	.		ENST00000263967	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	ENSG00000121879	g.chr3:178938803delA	8975			HIGH								--	--	1				HNSCC(19;0.045)|TSP Lung(28;0.18)																																1			p.Q682fs	NM_006218	NP_006209				PK3CA_HUMAN	PIK3CA	HGNC	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN		14	2202	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		UPI000013D494	682			PI3K helical.		deletion	PIK3CA,frameshift_variant,p.Gln682ArgfsTer18,ENST00000263967,NM_006218.2;PIK3CA,non_coding_transcript_exon_variant,,ENST00000462255,;	uc003fjk.2	c.2045delA	2202/9093	5	5		57	c.2045delA	Mis				colorectal|gastric|gliobastoma|breast	3	DEL	c.(2044-2046)CAGfs	63	63			breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	Broad	phosphoinositide-3-kinase, catalytic, alpha			178938803		0.348	ENSG00000121879	11716	g.chr3:178938803delA	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	Colon(199;1504 1750 3362 26421 31210 32040)		621	Colon(199;1504 1750 3362 26421 31210 32040)		621														0.18	1	1	0	1	0	0	0	0	0	--	--	HNSCC(19;0.045)|TSP Lung(28;0.18)	0	-				276	GBM-76-6193-TP	p.Q682fs	A	ACAGTTAGCCAGAGGTTTGGC	NM_006218	NP_006209	178938803	P42336	PK3CA_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		14	2202	+	-	-	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		Frame_Shift_Del	682			PI3K helical.			
PIK3CA	5290		GRCh37	3	178936091	178936091	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000263967.3:c.1633G>A	p.Glu545Lys	p.E545K	ENST00000263967	NM_006218.2	545	Gag/Aag	0																																																																																																																																																																																																																																												
PIK3CA	5290		GRCh37	3	178917478	178917478	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000263967.3:c.353G>A	p.Gly118Asp	p.G118D	ENST00000263967	NM_006218.2	118	gGt/gAt	0																																																																																																																																																																																																																																												
PIK3CA	5290		GRCh37	3	178936092	178936092	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000263967.3:c.1634A>C	p.Glu545Ala	p.E545A	ENST00000263967	NM_006218.2	545	gAg/gCg	0																																																																																																																																																																																																																																												
PIK3CA	5290		GRCh37	3	178916726	178916726	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000263967.3:c.113G>A	p.Arg38His	p.R38H	ENST00000263967	NM_006218.2	38	cGt/cAt	0																																																																																																																																																																																																																																												
PIK3CB	0	broad.mit.edu	GRCh37	3	138374298	138374298	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-6698-01	TCGA-06-6698-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000289153.2:c.3146T>G	p.Leu1049Arg	p.L1049R	ENST00000289153	NM_006219.2	1049	cTc/cGc	0			1			C	L/R	uc011bmq.1	protein_coding		CCDS3104.1			3146/3213									breast(2)|ovary(1)|lung(1)|skin(1)	5	c.(3145-3147)CTC>CGC			Superfamily_domains:SSF56112,SMART_domains:SM00146,Gene3D:1.10.1070.11,hmmpanther:PTHR10048:SF33,hmmpanther:PTHR10048,PROSITE_profiles:PS50290,Coiled-coils_(Ncoils):Coil	catalytic phosphatidylinositol 3-kinase beta				ENSP00000289153		22/22									COSM3408280	22/22	.		ENST00000289153	Transcript			activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	ENSG00000051382	g.chr3:138374298A>C	8976			MODERATE		2.67	medium	getma.org/?cm=msa&ty=f&p=PK3CB_HUMAN&rb=800&re=1067&var=L1049R	getma.org/pdb.php?prot=PK3CB_HUMAN&from=800&to=1067&var=L1049R	getma.org/?cm=var&var=hg19,3,138374298,A,C&fts=all	L1049R	--	--	1																																		PIK3CB_uc011bmn.1_Missense_Mutation_p.L561R|PIK3CB_uc011bmo.1_Missense_Mutation_p.L500R|PIK3CB_uc011bmp.1_Missense_Mutation_p.L636R|PIK3CB_uc003est.1_RNA	1			probably_damaging(0.996)	p.L1049R	NM_006219	NP_006210		deleterious(0)	1	PK3CB_HUMAN	PIK3CB	HGNC	P42338	PK3CB_HUMAN			Q9BTS4_HUMAN,Q6PJ60_HUMAN,C9JYX0_HUMAN,C9JNF6_HUMAN,C9J345_HUMAN		22	3146	-			UPI0000046842	1049			PI3K/PI4K.		SNV	PIK3CB,missense_variant,p.Leu1049Arg,ENST00000477593,;PIK3CB,missense_variant,p.Leu1049Arg,ENST00000289153,NM_006219.2;PIK3CB,missense_variant,p.Leu500Arg,ENST00000544716,;PIK3CB,missense_variant,p.Leu681Arg,ENST00000493568,;PIK3CB,3_prime_UTR_variant,,ENST00000462898,;PIK3CB,3_prime_UTR_variant,,ENST00000469284,;PIK3CB,non_coding_transcript_exon_variant,,ENST00000481749,;PIK3CB,downstream_gene_variant,,ENST00000487552,;	uc011bmq.1	c.3146T>G	3146/3213	3	3			c.3146T>G						3	SNP	c.(3145-3147)CTC>CGC	52	52			breast(2)|ovary(1)|lung(1)|skin(1)	5	Broad	catalytic phosphatidylinositol 3-kinase beta			138374298		0.418	ENSG00000051382	11717	g.chr3:138374298A>C	activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			330			330	5.572612	KEEP	3	5	-1	34	34	3	5	-1	16.254706	34	34	0.102941	1	0	0	0	0	1	0	0	0	--	--		0	C			PIK3CB_uc011bmn.1_Missense_Mutation_p.L561R|PIK3CB_uc011bmo.1_Missense_Mutation_p.L500R|PIK3CB_uc011bmp.1_Missense_Mutation_p.L636R|PIK3CB_uc003est.1_RNA	112	GBM-06-6698-TP	p.L1049R	A	GCTTTCCCTGAGCGCCTCATC	NM_006219	NP_006210	138374298	P42338	PK3CB_HUMAN	0			22	3146	-	C	C			Missense_Mutation	1049			PI3K/PI4K.			
PIK3CB	0	broad.mit.edu	GRCh37	3	138417859	138417859	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01	TCGA-14-0789-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000289153.2:c.1660G>A	p.Glu554Lys	p.E554K	ENST00000289153	NM_006219.2	554	Gaa/Aaa	0			1			T	E/K	uc011bmq.1	protein_coding		CCDS3104.1			1660/3213									breast(2)|ovary(1)|lung(1)|skin(1)	5	c.(1660-1662)GAA>AAA			Superfamily_domains:SSF48371,SMART_domains:SM00145,Gene3D:1.25.40.70,Pfam_domain:PF00613,hmmpanther:PTHR10048:SF33,hmmpanther:PTHR10048,PROSITE_profiles:PS51545	catalytic phosphatidylinositol 3-kinase beta				ENSP00000289153		22-Nov									COSM3408281	22-Nov	.		ENST00000289153	Transcript			activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	ENSG00000051382	g.chr3:138417859C>T	8976			MODERATE		2.285	medium	getma.org/?cm=msa&ty=f&p=PK3CB_HUMAN&rb=527&re=711&var=E554K	getma.org/pdb.php?prot=PK3CB_HUMAN&from=527&to=711&var=E554K	getma.org/?cm=var&var=hg19,3,138417859,C,T&fts=all	E554K	--	--	1																																		PIK3CB_uc011bmn.1_Missense_Mutation_p.E66K|PIK3CB_uc011bmo.1_5'UTR|PIK3CB_uc011bmp.1_Missense_Mutation_p.E141K	1			possibly_damaging(0.781)	p.E554K	NM_006219	NP_006210		deleterious(0)	1	PK3CB_HUMAN	PIK3CB	HGNC	P42338	PK3CB_HUMAN			Q9BTS4_HUMAN,Q6PJ60_HUMAN,C9JYX0_HUMAN,C9JNF6_HUMAN,C9J345_HUMAN		11	1660	-			UPI0000046842	554			PI3K helical.		SNV	PIK3CB,missense_variant,p.Glu554Lys,ENST00000477593,;PIK3CB,missense_variant,p.Glu554Lys,ENST00000289153,NM_006219.2;PIK3CB,missense_variant,p.Glu186Lys,ENST00000493568,;PIK3CB,5_prime_UTR_variant,,ENST00000544716,;PIK3CB,missense_variant,p.Glu86Lys,ENST00000473435,;PIK3CB,3_prime_UTR_variant,,ENST00000462898,;PIK3CB,3_prime_UTR_variant,,ENST00000469284,;PIK3CB,non_coding_transcript_exon_variant,,ENST00000481749,;	uc011bmq.1	c.1660G>A	1660/3213	1	1			c.1660G>A						3	SNP	c.(1660-1662)GAA>AAA	2	2			breast(2)|ovary(1)|lung(1)|skin(1)	5	Broad	catalytic phosphatidylinositol 3-kinase beta			138417859		0.383	ENSG00000051382	11717	g.chr3:138417859C>T	activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			330			330	131.214781	KEEP	32	25	-1	68	66	32	25	-1	138.414054	68	66	0.288889	1	0	0	0	0	1	0	0	0	--	--		0	T			PIK3CB_uc011bmn.1_Missense_Mutation_p.E66K|PIK3CB_uc011bmo.1_5'UTR|PIK3CB_uc011bmp.1_Missense_Mutation_p.E141K	136	GBM-14-0789-TP	p.E554K	C	AGATCCATTTCATTTTCACAC	NM_006219	NP_006210	138417859	P42338	PK3CB_HUMAN	0			11	1660	-	T	T			Missense_Mutation	554			PI3K helical.			
PIK3CB	0	broad.mit.edu	GRCh37	3	138374244	138374244	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-32-2494-01	TCGA-32-2494-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000289153.2:c.3200A>C	p.Asp1067Ala	p.D1067A	ENST00000289153	NM_006219.2	1067	gAc/gCc	0			1			G	D/A	uc011bmq.1	protein_coding		CCDS3104.1			3200/3213									breast(2)|ovary(1)|lung(1)|skin(1)	5	c.(3199-3201)GAC>GCC			SMART_domains:SM00146,hmmpanther:PTHR10048:SF33,hmmpanther:PTHR10048	catalytic phosphatidylinositol 3-kinase beta				ENSP00000289153		22/22									COSM3408278	22/22	.		ENST00000289153	Transcript			activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	ENSG00000051382	g.chr3:138374244T>G	8976			MODERATE		2.3	medium	getma.org/?cm=msa&ty=f&p=PK3CB_HUMAN&rb=800&re=1067&var=D1067A	NA	getma.org/?cm=var&var=hg19,3,138374244,T,G&fts=all	D1067A	--	--	1																																		PIK3CB_uc011bmn.1_Missense_Mutation_p.D579A|PIK3CB_uc011bmo.1_Missense_Mutation_p.D518A|PIK3CB_uc011bmp.1_Missense_Mutation_p.D654A|PIK3CB_uc003est.1_RNA	1			probably_damaging(0.979)	p.D1067A	NM_006219	NP_006210		deleterious(0)	1	PK3CB_HUMAN	PIK3CB	HGNC	P42338	PK3CB_HUMAN			Q9BTS4_HUMAN,Q6PJ60_HUMAN,C9JYX0_HUMAN,C9JNF6_HUMAN,C9J345_HUMAN		22	3200	-			UPI0000046842	1067			PI3K/PI4K.		SNV	PIK3CB,missense_variant,p.Asp1067Ala,ENST00000477593,;PIK3CB,missense_variant,p.Asp1067Ala,ENST00000289153,NM_006219.2;PIK3CB,missense_variant,p.Asp518Ala,ENST00000544716,;PIK3CB,missense_variant,p.Asp699Ala,ENST00000493568,;PIK3CB,3_prime_UTR_variant,,ENST00000462898,;PIK3CB,3_prime_UTR_variant,,ENST00000469284,;PIK3CB,non_coding_transcript_exon_variant,,ENST00000481749,;PIK3CB,downstream_gene_variant,,ENST00000487552,;	uc011bmq.1	c.3200A>C	3200/3213	3	3			c.3200A>C						3	SNP	c.(3199-3201)GAC>GCC	7	7			breast(2)|ovary(1)|lung(1)|skin(1)	5	Broad	catalytic phosphatidylinositol 3-kinase beta			138374244		0.408	ENSG00000051382	11717	g.chr3:138374244T>G	activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity		p.D1067V(A498-Tumor)	330		p.D1067V(A498-Tumor)	330	188.103302	KEEP	29	42	-1	87	86	29	42	-1	195.705111	87	86	0.295567	1	0	0	0	0	1	0	0	0	--	--		0	G			PIK3CB_uc011bmn.1_Missense_Mutation_p.D579A|PIK3CB_uc011bmo.1_Missense_Mutation_p.D518A|PIK3CB_uc011bmp.1_Missense_Mutation_p.D654A|PIK3CB_uc003est.1_RNA	236	GBM-32-2494-TP	p.D1067A	T	AGATCTGTAGTCTTTCCGAAC	NM_006219	NP_006210	138374244	P42338	PK3CB_HUMAN	0			22	3200	-	G	G			Missense_Mutation	1067			PI3K/PI4K.			
PIK3CB	0	broad.mit.edu	GRCh37	3	138374281	138374281	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-2494-01	TCGA-32-2494-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000289153.2:c.3163A>G	p.Thr1055Ala	p.T1055A	ENST00000289153	NM_006219.2	1055	Act/Gct	0			1			C	T/A	uc011bmq.1	protein_coding		CCDS3104.1			3163/3213									breast(2)|ovary(1)|lung(1)|skin(1)	5	c.(3163-3165)ACT>GCT			Superfamily_domains:SSF56112,SMART_domains:SM00146,Gene3D:1.10.1070.11,hmmpanther:PTHR10048:SF33,hmmpanther:PTHR10048	catalytic phosphatidylinositol 3-kinase beta				ENSP00000289153		22/22									COSM3408279	22/22	.		ENST00000289153	Transcript			activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	ENSG00000051382	g.chr3:138374281T>C	8976			MODERATE		2.605	medium	getma.org/?cm=msa&ty=f&p=PK3CB_HUMAN&rb=800&re=1067&var=T1055A	getma.org/pdb.php?prot=PK3CB_HUMAN&from=800&to=1067&var=T1055A	getma.org/?cm=var&var=hg19,3,138374281,T,C&fts=all	T1055A	--	--	1																																		PIK3CB_uc011bmn.1_Missense_Mutation_p.T567A|PIK3CB_uc011bmo.1_Missense_Mutation_p.T506A|PIK3CB_uc011bmp.1_Missense_Mutation_p.T642A|PIK3CB_uc003est.1_RNA	1			probably_damaging(0.999)	p.T1055A	NM_006219	NP_006210		deleterious(0)	1	PK3CB_HUMAN	PIK3CB	HGNC	P42338	PK3CB_HUMAN			Q9BTS4_HUMAN,Q6PJ60_HUMAN,C9JYX0_HUMAN,C9JNF6_HUMAN,C9J345_HUMAN		22	3163	-			UPI0000046842	1055			PI3K/PI4K.		SNV	PIK3CB,missense_variant,p.Thr1055Ala,ENST00000477593,;PIK3CB,missense_variant,p.Thr1055Ala,ENST00000289153,NM_006219.2;PIK3CB,missense_variant,p.Thr506Ala,ENST00000544716,;PIK3CB,missense_variant,p.Thr687Ala,ENST00000493568,;PIK3CB,3_prime_UTR_variant,,ENST00000462898,;PIK3CB,3_prime_UTR_variant,,ENST00000469284,;PIK3CB,non_coding_transcript_exon_variant,,ENST00000481749,;PIK3CB,downstream_gene_variant,,ENST00000487552,;	uc011bmq.1	c.3163A>G	3163/3213	4	4			c.3163A>G						3	SNP	c.(3163-3165)ACT>GCT	33	33			breast(2)|ovary(1)|lung(1)|skin(1)	5	Broad	catalytic phosphatidylinositol 3-kinase beta			138374281		0.413	ENSG00000051382	11717	g.chr3:138374281T>C	activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			330			330	157.996385	KEEP	26	30	-1	73	84	26	30	-1	168.770204	73	84	0.252577	1	0	0	0	0	1	0	0	0	--	--		0	C			PIK3CB_uc011bmn.1_Missense_Mutation_p.T567A|PIK3CB_uc011bmo.1_Missense_Mutation_p.T506A|PIK3CB_uc011bmp.1_Missense_Mutation_p.T642A|PIK3CB_uc003est.1_RNA	236	GBM-32-2494-TP	p.T1055A	T	TTCACTTTAGTAGTCCAGCTT	NM_006219	NP_006210	138374281	P42338	PK3CB_HUMAN	0			22	3163	-	C	C			Missense_Mutation	1055			PI3K/PI4K.			
PIK3CD	0	broad.mit.edu	GRCh37	1	9780231	9780231	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-26-5136-01	TCGA-26-5136-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377346.4:c.1401C>T	p.Ser467=	p.S467=	ENST00000377346	NM_005026.3	467	agC/agT	0		T:0.0008	1	T:0		T	S	uc001aqb.3	protein_coding	YES	CCDS104.1			1401/3135									lung(4)|skin(2)|central_nervous_system(1)	7	c.(1399-1401)AGC>AGT			PROSITE_profiles:PS51547,hmmpanther:PTHR10048:SF35,hmmpanther:PTHR10048,Gene3D:2.60.40.150,Superfamily_domains:SSF49562	catalytic phosphatidylinositol 3-kinase delta		T:0		ENSP00000366563	T:0	24-Nov	4.94E-05	9.94E-05				7.71E-05			rs200295565,COSM2157139	24-Nov	.		ENST00000377346	Transcript	1	T:0.0002	phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	ENSG00000171608	g.chr1:9780231C>T	8977			LOW								--	--	1																																		PIK3CD_uc010oaf.1_Silent_p.S467S|PIK3CD_uc001aqe.3_Silent_p.S432S	0,1	1			p.S467S	NM_005026	NP_005017	T:0		0,1	PK3CD_HUMAN	PIK3CD	HGNC	O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	B7ZM44_HUMAN		11	1609	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	UPI000013E807	467					SNV	PIK3CD,synonymous_variant,p.=,ENST00000536656,;PIK3CD,synonymous_variant,p.=,ENST00000377346,NM_005026.3;PIK3CD,synonymous_variant,p.=,ENST00000361110,;PIK3CD,synonymous_variant,p.=,ENST00000543390,;PIK3CD,downstream_gene_variant,,ENST00000479223,;PIK3CD,downstream_gene_variant,,ENST00000481137,;	uc001aqb.3	c.1401C>T	1596/5203	1	1			c.1401C>T						1	SNP	c.(1399-1401)AGC>AGT	11	11			lung(4)|skin(2)|central_nervous_system(1)	7	Broad	catalytic phosphatidylinositol 3-kinase delta			9780231		0.662	ENSG00000171608	11718	g.chr1:9780231C>T	phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			859			859	124.390849	KEEP	31	21	-1	31	35	31	21	-1	124.793371	31	35	0.432692	1	0	0	0	0	0	0	1	0	--	--		0	T			PIK3CD_uc010oaf.1_Silent_p.S467S|PIK3CD_uc001aqe.3_Silent_p.S432S	185	GBM-26-5136-TP	p.S467S	C	ACACGGATAGCGCCGCTGCCC	NM_005026	NP_005017	9780231	O00329	PK3CD_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	11	1609	+	T	T	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	Silent	467						
PIK3CG	5294	broad.mit.edu	GRCh37	7	106524646	106524646	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0173-01	TCGA-06-0173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359195.3:c.2807G>C	p.Cys936Ser	p.C936S	ENST00000359195	NM_002649.2	936	tGt/tCt	0			1			C	C/S	uc003vdv.3	protein_coding	YES	CCDS5739.1			2807/3309								p.C936S(1)	lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38	c.(2806-2808)TGT>TCT			Gene3D:1.10.1070.11,Pfam_domain:PF00454,PROSITE_patterns:PS00916,PROSITE_profiles:PS50290,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF34,SMART_domains:SM00146,Superfamily_domains:SSF56112	phosphoinositide-3-kinase, catalytic, gamma				ENSP00000352121		11-Sep									COSM42951	11-Sep	.		ENST00000359195	Transcript			G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	ENSG00000105851	g.chr7:106524646G>C	8978			MODERATE		0.82	low	getma.org/?cm=msa&ty=f&p=PK3CG_HUMAN&rb=827&re=1044&var=C936S	getma.org/pdb.php?prot=PK3CG_HUMAN&from=827&to=1044&var=C936S	getma.org/?cm=var&var=hg19,7,106524646,G,C&fts=all	C936S	--	--	1																																		PIK3CG_uc003vdu.2_Missense_Mutation_p.C936S|PIK3CG_uc003vdw.2_Missense_Mutation_p.C936S	1	1		probably_damaging(0.982)	p.C936S	NM_002649	NP_002640		deleterious(0)	1	PK3CG_HUMAN	PIK3CG	HGNC	P48736	PK3CG_HUMAN			Q24M88_HUMAN,E9PDN7_HUMAN		9	2892	+			UPI00000746B8	936			PI3K/PI4K.		SNV	PIK3CG,missense_variant,p.Cys936Ser,ENST00000359195,NM_002649.2,NM_001282427.1;PIK3CG,missense_variant,p.Cys936Ser,ENST00000496166,NM_001282426.1;PIK3CG,missense_variant,p.Cys936Ser,ENST00000440650,;PIK3CG,downstream_gene_variant,,ENST00000473541,;PIK3CG,downstream_gene_variant,,ENST00000466738,;	uc003vdv.3	c.2807G>C	3117/5377	4	4			c.2807G>C						7	SNP	c.(2806-2808)TGT>TCT	46	46		p.C936S(1)	lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38	Broad	phosphoinositide-3-kinase, catalytic, gamma			106524646		0.358	ENSG00000105851	11719	g.chr7:106524646G>C	G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding		p.C936fs(NCIH358-Tumor)	292		p.C936fs(NCIH358-Tumor)	292	223.481507	KEEP	49	49	-1	187	151	49	49	-1	250.113862	187	151	0.216667	1	0	0	0	0	1	0	0	0	--	--		0	C			PIK3CG_uc003vdu.2_Missense_Mutation_p.C936S|PIK3CG_uc003vdw.2_Missense_Mutation_p.C936S	36	GBM-06-0173-TP	p.C936S	G	GCAGGCTACTGTGTGGCAACC	NM_002649	NP_002640	106524646	P48736	PK3CG_HUMAN	0			9	2892	+	C	C			Missense_Mutation	936			PI3K/PI4K.			
PIK3CG	5294	broad.mit.edu	GRCh37	7	106508473	106508473	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2561-01	TCGA-06-2561-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359195.3:c.467C>T	p.Ala156Val	p.A156V	ENST00000359195	NM_002649.2	156	gCg/gTg	0			1			T	A/V	uc003vdv.3	protein_coding	YES	CCDS5739.1			467/3309									lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38	c.(466-468)GCG>GTG			Gene3D:3.10.20.90,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF34,Superfamily_domains:SSF54236	phosphoinositide-3-kinase, catalytic, gamma				ENSP00000352121		11-Feb									COSM1579094	11-Feb	.		ENST00000359195	Transcript			G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	ENSG00000105851	g.chr7:106508473C>T	8978			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=PK3CG_HUMAN&rb=1&re=200&var=A156V	getma.org/pdb.php?prot=PK3CG_HUMAN&from=1&to=200&var=A156V	getma.org/?cm=var&var=hg19,7,106508473,C,T&fts=all	A156V	--	--	1																																		PIK3CG_uc003vdu.2_Missense_Mutation_p.A156V|PIK3CG_uc003vdw.2_Missense_Mutation_p.A156V	1	1		benign(0.03)	p.A156V	NM_002649	NP_002640		tolerated(0.12)	1	PK3CG_HUMAN	PIK3CG	HGNC	P48736	PK3CG_HUMAN			Q24M88_HUMAN,E9PDN7_HUMAN		2	552	+			UPI00000746B8	156					SNV	PIK3CG,missense_variant,p.Ala156Val,ENST00000359195,NM_002649.2,NM_001282427.1;PIK3CG,missense_variant,p.Ala156Val,ENST00000496166,NM_001282426.1;PIK3CG,missense_variant,p.Ala156Val,ENST00000440650,;PIK3CG,intron_variant,,ENST00000473541,;	uc003vdv.3	c.467C>T	777/5377	2	2			c.467C>T						7	SNP	c.(466-468)GCG>GTG	34	34			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38	Broad	phosphoinositide-3-kinase, catalytic, gamma			106508473		0.682	ENSG00000105851	11719	g.chr7:106508473C>T	G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			292			292	25.566988	KEEP	4	7	-1	15	14	4	7	-1	26.494655	15	14	0.310345	1	0	0	0	0	1	0	0	0	--	--		0	T			PIK3CG_uc003vdu.2_Missense_Mutation_p.A156V|PIK3CG_uc003vdw.2_Missense_Mutation_p.A156V	84	GBM-06-2561-TP	p.A156V	C	CAGCTCACGGCGCTGATTGGC	NM_002649	NP_002640	106508473	P48736	PK3CG_HUMAN	0			2	552	+	T	T			Missense_Mutation	156						
PIK3CG	5294	broad.mit.edu	GRCh37	7	106508855	106508855	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359195.3:c.849C>T	p.Gly283=	p.G283=	ENST00000359195	NM_002649.2	283	ggC/ggT	0			1			T	G	uc003vdv.3	protein_coding	YES	CCDS5739.1			849/3309									lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38	c.(847-849)GGC>GGT			Gene3D:3.10.20.90,Pfam_domain:PF00794,PROSITE_profiles:PS51546,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF34,SMART_domains:SM00144,Superfamily_domains:SSF54236	phosphoinositide-3-kinase, catalytic, gamma				ENSP00000352121		11-Feb	1.65E-05		8.64E-05			1.50E-05			rs766973241,COSM200487	11-Feb	.		ENST00000359195	Transcript			G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	ENSG00000105851	g.chr7:106508855C>T	8978			LOW								--	--	1																																		PIK3CG_uc003vdu.2_Silent_p.G283G|PIK3CG_uc003vdw.2_Silent_p.G283G	0,1	1			p.G283G	NM_002649	NP_002640			0,1	PK3CG_HUMAN	PIK3CG	HGNC	P48736	PK3CG_HUMAN			Q24M88_HUMAN,E9PDN7_HUMAN		2	934	+			UPI00000746B8	283					SNV	PIK3CG,synonymous_variant,p.=,ENST00000359195,NM_002649.2,NM_001282427.1;PIK3CG,synonymous_variant,p.=,ENST00000496166,NM_001282426.1;PIK3CG,synonymous_variant,p.=,ENST00000440650,;PIK3CG,intron_variant,,ENST00000473541,;	uc003vdv.3	c.849C>T	1159/5377	2	2			c.849C>T						7	SNP	c.(847-849)GGC>GGT	20	20			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38	Broad	phosphoinositide-3-kinase, catalytic, gamma			106508855		0.552	ENSG00000105851	11719	g.chr7:106508855C>T	G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			292			292	41.748848	KEEP	16	12	-1	64	79	16	12	-1	58.287517	64	79	0.16875	1	0	0	0	0	0	0	1	0	--	--		0	T			PIK3CG_uc003vdu.2_Silent_p.G283G|PIK3CG_uc003vdw.2_Silent_p.G283G	100	GBM-06-5418-TP	p.G283G	C	ACCTGGTGGGCGAAACGCCCA	NM_002649	NP_002640	106508855	P48736	PK3CG_HUMAN	0			2	934	+	T	T			Silent	283						
PIK3CG	0	broad.mit.edu	GRCh37	7	106508126	106508126	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-1829-01	TCGA-14-1829-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359195.3:c.120C>T	p.Ile40=	p.I40=	ENST00000359195	NM_002649.2	40	atC/atT	0			1			T	I	uc003vdv.3	protein_coding	YES	CCDS5739.1			120/3309									lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38	c.(118-120)ATC>ATT			PROSITE_profiles:PS51544,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF34	phosphoinositide-3-kinase, catalytic, gamma				ENSP00000352121		11-Feb									COSM357660	11-Feb	.		ENST00000359195	Transcript			G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	ENSG00000105851	g.chr7:106508126C>T	8978			LOW								--	--	1																																		PIK3CG_uc003vdu.2_Silent_p.I40I|PIK3CG_uc003vdw.2_Silent_p.I40I	1	1			p.I40I	NM_002649	NP_002640			1	PK3CG_HUMAN	PIK3CG	HGNC	P48736	PK3CG_HUMAN			Q24M88_HUMAN,E9PDN7_HUMAN		2	205	+			UPI00000746B8	40					SNV	PIK3CG,synonymous_variant,p.=,ENST00000359195,NM_002649.2,NM_001282427.1;PIK3CG,synonymous_variant,p.=,ENST00000496166,NM_001282426.1;PIK3CG,synonymous_variant,p.=,ENST00000440650,;PIK3CG,intron_variant,,ENST00000473541,;	uc003vdv.3	c.120C>T	430/5377	2	2			c.120C>T						7	SNP	c.(118-120)ATC>ATT	25	25			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38	Broad	phosphoinositide-3-kinase, catalytic, gamma			106508126		0.662	ENSG00000105851	11719	g.chr7:106508126C>T	G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			292			292	40.6776	KEEP	13	13	-1	47	83	13	13	-1	53.487284	47	83	0.173228	1	0	0	0	0	0	0	1	0	--	--		0	T			PIK3CG_uc003vdu.2_Silent_p.I40I|PIK3CG_uc003vdw.2_Silent_p.I40I	149	GBM-14-1829-TP	p.I40I	C	TCATCCCCATCGAGTTCGTGC	NM_002649	NP_002640	106508126	P48736	PK3CG_HUMAN	0			2	205	+	T	T			Silent	40						
PIK3CG	0	broad.mit.edu	GRCh37	7	106508579	106508579	+	synonymous_variant	Silent	SNP	C	C	T	rs145944814		TCGA-26-5135-01	TCGA-26-5135-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359195.3:c.573C>T	p.Arg191=	p.R191=	ENST00000359195	NM_002649.2	191	cgC/cgT	0			1			T	R	uc003vdv.3	protein_coding	YES	CCDS5739.1			573/3309									lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38	c.(571-573)CGC>CGT			Gene3D:3.10.20.90,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF34,Superfamily_domains:SSF54236	phosphoinositide-3-kinase, catalytic, gamma				ENSP00000352121		11-Feb									COSM2157071	11-Feb	.		ENST00000359195	Transcript			G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	ENSG00000105851	g.chr7:106508579C>T	8978			LOW								--	--	1																																		PIK3CG_uc003vdu.2_Silent_p.R191R|PIK3CG_uc003vdw.2_Silent_p.R191R	1	1			p.R191R	NM_002649	NP_002640			1	PK3CG_HUMAN	PIK3CG	HGNC	P48736	PK3CG_HUMAN			Q24M88_HUMAN,E9PDN7_HUMAN		2	658	+			UPI00000746B8	191					SNV	PIK3CG,synonymous_variant,p.=,ENST00000359195,NM_002649.2,NM_001282427.1;PIK3CG,synonymous_variant,p.=,ENST00000496166,NM_001282426.1;PIK3CG,synonymous_variant,p.=,ENST00000440650,;PIK3CG,intron_variant,,ENST00000473541,;	uc003vdv.3	c.573C>T	883/5377	1	1			c.573C>T						7	SNP	c.(571-573)CGC>CGT	8	8			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38	Broad	phosphoinositide-3-kinase, catalytic, gamma			106508579		0.612	ENSG00000105851	11719	g.chr7:106508579C>T	G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding		p.R191R(NCIH2172-Tumor)	292		p.R191R(NCIH2172-Tumor)	292	105.646892	KEEP	15	33	-1	56	56	15	33	-1	109.279835	56	56	0.325926	1	0	0	0	0	0	0	1	0	--	--		0	T			PIK3CG_uc003vdu.2_Silent_p.R191R|PIK3CG_uc003vdw.2_Silent_p.R191R	184	GBM-26-5135-TP	p.R191R	C	TGGCCAGCCGCGACCCCAAGC	NM_002649	NP_002640	106508579	P48736	PK3CG_HUMAN	0			2	658	+	T	T			Silent	191						
PIK3CG	0	broad.mit.edu	GRCh37	7	106509059	106509059	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-5214-01	TCGA-28-5214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359195.3:c.1053C>T	p.Thr351=	p.T351=	ENST00000359195	NM_002649.2	351	acC/acT	0			1			T	T	uc003vdv.3	protein_coding	YES	CCDS5739.1			1053/3309									lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38	c.(1051-1053)ACC>ACT			hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF34,SMART_domains:SM00142,Superfamily_domains:SSF49562	phosphoinositide-3-kinase, catalytic, gamma				ENSP00000352121		11-Feb									rs550240865,COSM3254587	11-Feb	.		ENST00000359195	Transcript			G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	ENSG00000105851	g.chr7:106509059C>T	8978			LOW								--	--	1																																		PIK3CG_uc003vdu.2_Silent_p.T351T|PIK3CG_uc003vdw.2_Silent_p.T351T	0,1	1			p.T351T	NM_002649	NP_002640			0,1	PK3CG_HUMAN	PIK3CG	HGNC	P48736	PK3CG_HUMAN			Q24M88_HUMAN,E9PDN7_HUMAN		2	1138	+			UPI00000746B8	351					SNV	PIK3CG,synonymous_variant,p.=,ENST00000359195,NM_002649.2,NM_001282427.1;PIK3CG,synonymous_variant,p.=,ENST00000496166,NM_001282426.1;PIK3CG,synonymous_variant,p.=,ENST00000440650,;PIK3CG,intron_variant,,ENST00000473541,;	uc003vdv.3	c.1053C>T	1363/5377	1	1			c.1053C>T						7	SNP	c.(1051-1053)ACC>ACT	2	2			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38	Broad	phosphoinositide-3-kinase, catalytic, gamma			106509059		0.572	ENSG00000105851	11719	g.chr7:106509059C>T	G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding		p.T351T(COLO792-Tumor)	292		p.T351T(COLO792-Tumor)	292	154.952447	KEEP	29	45	-1	124	150	29	45	-1	177.925052	124	150	0.214984	1	0	0	0	0	0	0	1	0	--	--		0	T			PIK3CG_uc003vdu.2_Silent_p.T351T|PIK3CG_uc003vdw.2_Silent_p.T351T	221	GBM-28-5214-TP	p.T351T	C	GTGTGTTCACCGTGTCCCTGT	NM_002649	NP_002640	106509059	P48736	PK3CG_HUMAN	0			2	1138	+	T	T			Silent	351						
PIK3CG	0	broad.mit.edu	GRCh37	7	106508826	106508826	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359195.3:c.820G>A	p.Val274Ile	p.V274I	ENST00000359195	NM_002649.2	274	Gtc/Atc	0			1			A	V/I	uc003vdv.3	protein_coding	YES	CCDS5739.1			820/3309									lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38	c.(820-822)GTC>ATC			Gene3D:3.10.20.90,Pfam_domain:PF00794,PROSITE_profiles:PS51546,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF34,SMART_domains:SM00144,Superfamily_domains:SSF54236	phosphoinositide-3-kinase, catalytic, gamma				ENSP00000352121		11-Feb									COSM200486	11-Feb	.		ENST00000359195	Transcript			G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	ENSG00000105851	g.chr7:106508826G>A	8978			MODERATE		1.525	low	getma.org/?cm=msa&ty=f&p=PK3CG_HUMAN&rb=203&re=312&var=V274I	getma.org/pdb.php?prot=PK3CG_HUMAN&from=203&to=312&var=V274I	getma.org/?cm=var&var=hg19,7,106508826,G,A&fts=all	V274I	--	--	1																																		PIK3CG_uc003vdu.2_Missense_Mutation_p.V274I|PIK3CG_uc003vdw.2_Missense_Mutation_p.V274I	1	1		possibly_damaging(0.573)	p.V274I	NM_002649	NP_002640		deleterious(0.03)	1	PK3CG_HUMAN	PIK3CG	HGNC	P48736	PK3CG_HUMAN			Q24M88_HUMAN,E9PDN7_HUMAN		2	905	+			UPI00000746B8	274					SNV	PIK3CG,missense_variant,p.Val274Ile,ENST00000359195,NM_002649.2,NM_001282427.1;PIK3CG,missense_variant,p.Val274Ile,ENST00000496166,NM_001282426.1;PIK3CG,missense_variant,p.Val274Ile,ENST00000440650,;PIK3CG,intron_variant,,ENST00000473541,;	uc003vdv.3	c.820G>A	1130/5377	2	2			c.820G>A						7	SNP	c.(820-822)GTC>ATC	46	46			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38	Broad	phosphoinositide-3-kinase, catalytic, gamma			106508826		0.542	ENSG00000105851	11719	g.chr7:106508826G>A	G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			292			292	-18.112767	KEEP	4	2	-1	68	63	4	2	-1	9.532599	68	63	0.040984	1	0	0	0	0	1	0	0	0	--	--		0	A			PIK3CG_uc003vdu.2_Missense_Mutation_p.V274I|PIK3CG_uc003vdw.2_Missense_Mutation_p.V274I	240	GBM-32-2632-TP	p.V274I	G	TGTGCTGCGCGTCTGTGGCCG	NM_002649	NP_002640	106508826	P48736	PK3CG_HUMAN	0			2	905	+	A	A			Missense_Mutation	274						
PIK3CG	0	broad.mit.edu	GRCh37	7	106509352	106509352	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01	TCGA-32-2632-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359195.3:c.1346C>T	p.Ser449Phe	p.S449F	ENST00000359195	NM_002649.2	449	tCc/tTc	0			1			T	S/F	uc003vdv.3	protein_coding	YES	CCDS5739.1			1346/3309									lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38	c.(1345-1347)TCC>TTC			Gene3D:2.60.40.150,Pfam_domain:PF00792,PROSITE_profiles:PS51547,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF34,Low_complexity_(Seg):seg,SMART_domains:SM00142,Superfamily_domains:SSF49562	phosphoinositide-3-kinase, catalytic, gamma				ENSP00000352121		11-Feb									COSM3411451	11-Feb	.		ENST00000359195	Transcript			G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	ENSG00000105851	g.chr7:106509352C>T	8978			MODERATE		1.78	low	getma.org/?cm=msa&ty=f&p=PK3CG_HUMAN&rb=377&re=520&var=S449F	getma.org/pdb.php?prot=PK3CG_HUMAN&from=377&to=520&var=S449F	getma.org/?cm=var&var=hg19,7,106509352,C,T&fts=all	S449F	--	--	1																																		PIK3CG_uc003vdu.2_Missense_Mutation_p.S449F|PIK3CG_uc003vdw.2_Missense_Mutation_p.S449F	1	1		benign(0.044)	p.S449F	NM_002649	NP_002640		deleterious(0.04)	1	PK3CG_HUMAN	PIK3CG	HGNC	P48736	PK3CG_HUMAN			Q24M88_HUMAN,E9PDN7_HUMAN		2	1431	+			UPI00000746B8	449					SNV	PIK3CG,missense_variant,p.Ser449Phe,ENST00000359195,NM_002649.2,NM_001282427.1;PIK3CG,missense_variant,p.Ser449Phe,ENST00000496166,NM_001282426.1;PIK3CG,missense_variant,p.Ser449Phe,ENST00000440650,;PIK3CG,intron_variant,,ENST00000473541,;	uc003vdv.3	c.1346C>T	1656/5377	1	1			c.1346C>T						7	SNP	c.(1345-1347)TCC>TTC	2	2			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38	Broad	phosphoinositide-3-kinase, catalytic, gamma			106509352		0.517	ENSG00000105851	11719	g.chr7:106509352C>T	G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			292			292	50.255437	KEEP	21	11	-1	96	79	21	11	-1	71.06112	96	79	0.156757	1	0	0	0	0	1	0	0	0	--	--		0	T			PIK3CG_uc003vdu.2_Missense_Mutation_p.S449F|PIK3CG_uc003vdw.2_Missense_Mutation_p.S449F	240	GBM-32-2632-TP	p.S449F	C	TCTGCAGAGTCCCCCAGTTCT	NM_002649	NP_002640	106509352	P48736	PK3CG_HUMAN	0			2	1431	+	T	T			Missense_Mutation	449						
PIK3CG	0	broad.mit.edu	GRCh37	7	106508432	106508432	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359195.3:c.426G>A	p.Pro142=	p.P142=	ENST00000359195	NM_002649.2	142	ccG/ccA	0			1			A	P	uc003vdv.3	protein_coding	YES	CCDS5739.1			426/3309									lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38	c.(424-426)CCG>CCA			hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF34	phosphoinositide-3-kinase, catalytic, gamma				ENSP00000352121		11-Feb									COSM1568713	11-Feb	.		ENST00000359195	Transcript			G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	ENSG00000105851	g.chr7:106508432G>A	8978			LOW								--	--	1																																		PIK3CG_uc003vdu.2_Silent_p.P142P|PIK3CG_uc003vdw.2_Silent_p.P142P	1	1			p.P142P	NM_002649	NP_002640			1	PK3CG_HUMAN	PIK3CG	HGNC	P48736	PK3CG_HUMAN			Q24M88_HUMAN,E9PDN7_HUMAN		2	511	+			UPI00000746B8	142					SNV	PIK3CG,synonymous_variant,p.=,ENST00000359195,NM_002649.2,NM_001282427.1;PIK3CG,synonymous_variant,p.=,ENST00000496166,NM_001282426.1;PIK3CG,synonymous_variant,p.=,ENST00000440650,;PIK3CG,intron_variant,,ENST00000473541,;	uc003vdv.3	c.426G>A	736/5377	2	2			c.426G>A						7	SNP	c.(424-426)CCG>CCA	17	17			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38	Broad	phosphoinositide-3-kinase, catalytic, gamma			106508432		0.637	ENSG00000105851	11719	g.chr7:106508432G>A	G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			292			292	59.805973	KEEP	9	20	-1	19	25	9	20	-1	59.957908	19	25	0.442308	1	0	0	0	0	0	0	1	0	--	--		0	A			PIK3CG_uc003vdu.2_Silent_p.P142P|PIK3CG_uc003vdw.2_Silent_p.P142P	270	GBM-76-4931-TP	p.P142P	G	AGCGGCACCCGCCCTCCGAGG	NM_002649	NP_002640	106508432	P48736	PK3CG_HUMAN	0			2	511	+	A	A			Silent	142						
PIK3CG	5294		GRCh37	7	106523501	106523501	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000359195.3:c.2653G>A	p.Ala885Thr	p.A885T	ENST00000359195	NM_002649.2	885	Gcc/Acc	0																																																																																																																																																																																																																																												
PIK3R1	5295	broad.mit.edu	GRCh37	5	67589138	67589138	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01	TCGA-02-0003-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274335.5:c.1126G>A	p.Gly376Arg	p.G376R	ENST00000274335		376	Gga/Aga	0			1			A	G/R	uc003jva.2	protein_coding	YES	CCDS3993.1			1126/2175	Mis|F|O				gliobastoma|ovarian|colorectal			p.G376R(3)|p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	c.(1126-1128)GGA>AGA			Gene3D:3.30.505.10,Pfam_domain:PF00017,PROSITE_profiles:PS50001,hmmpanther:PTHR10155,hmmpanther:PTHR10155:SF3,SMART_domains:SM00252,Superfamily_domains:SSF55550	phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)			ENSP00000428056		16-Oct									COSM35827,COSM1438285,COSM1438284	16-Oct	.		ENST00000521381	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	ENSG00000145675	g.chr5:67589138G>A	8979			MODERATE		2.475	medium	getma.org/?cm=msa&ty=f&p=P85A_HUMAN&rb=333&re=408&var=G376R	getma.org/pdb.php?prot=P85A_HUMAN&from=333&to=408&var=G376R	getma.org/?cm=var&var=hg19,5,67589138,G,A&fts=all	G376R	--	--	1				TCGA GBM(4;<1E-08)																														PIK3R1_uc003jvb.2_Missense_Mutation_p.G376R|PIK3R1_uc003jvc.2_Missense_Mutation_p.G76R|PIK3R1_uc003jvd.2_Missense_Mutation_p.G106R|PIK3R1_uc003jve.2_Missense_Mutation_p.G55R|PIK3R1_uc011crb.1_Missense_Mutation_p.G46R	1,1,1	1		probably_damaging(1)	p.G376R	NM_181523	NP_852664		deleterious(0)	1,1,1	P85A_HUMAN	PIK3R1	HGNC	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	J7GXU7_HUMAN,J7GU64_HUMAN,E5RJY0_HUMAN,E5RHI0_HUMAN,E5RGI8_HUMAN,B3KWZ7_HUMAN		10	1686	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	UPI000013D9FF	376			SH2 1.		SNV	PIK3R1,missense_variant,p.Gly376Arg,ENST00000521381,NM_181523.2;PIK3R1,missense_variant,p.Gly376Arg,ENST00000396611,;PIK3R1,missense_variant,p.Gly376Arg,ENST00000274335,;PIK3R1,missense_variant,p.Gly376Arg,ENST00000521657,;PIK3R1,missense_variant,p.Gly76Arg,ENST00000320694,NM_181524.1;PIK3R1,missense_variant,p.Gly13Arg,ENST00000523872,NM_001242466.1;PIK3R1,missense_variant,p.Gly106Arg,ENST00000336483,NM_181504.3;PIK3R1,missense_variant,p.Gly49Arg,ENST00000519025,;PIK3R1,missense_variant,p.Gly106Arg,ENST00000523807,;PIK3R1,missense_variant,p.Gly13Arg,ENST00000521409,;PIK3R1,downstream_gene_variant,,ENST00000522084,;PIK3R1,3_prime_UTR_variant,,ENST00000517698,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000518813,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000520550,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000518292,;	uc003jva.2	c.1126G>A	1742/7011	2	2			c.1126G>A	Mis|F|O				gliobastoma|ovarian|colorectal	5	SNP	c.(1126-1128)GGA>AGA	46	46		p.G376R(3)|p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	Broad	phosphoinositide-3-kinase, regulatory subunit 1		Isoproterenol(DB01064)	67589138		0.308	ENSG00000145675	11721	g.chr5:67589138G>A	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding			370			370	57.519292	KEEP	14	11	-1	33	34	14	11	-1	61.489815	33	34	0.268293	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(4;<1E-08)	0	A			PIK3R1_uc003jvb.2_Missense_Mutation_p.G376R|PIK3R1_uc003jvc.2_Missense_Mutation_p.G76R|PIK3R1_uc003jvd.2_Missense_Mutation_p.G106R|PIK3R1_uc003jve.2_Missense_Mutation_p.G55R|PIK3R1_uc011crb.1_Missense_Mutation_p.G46R	1	GBM-02-0003-TP	p.G376R	G	CAGGAAAGGGGGAAATAACAA	NM_181523	NP_852664	67589138	P27986	P85A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	10	1686	+	A	A		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	Missense_Mutation	376			SH2 1.			
PIK3R1	5295	broad.mit.edu	GRCh37	5	67589138	67589138	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0128-01	TCGA-06-0128-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274335.5:c.1126G>C	p.Gly376Arg	p.G376R	ENST00000274335		376	Gga/Cga	0			1			C	G/R	uc003jva.2	protein_coding	YES	CCDS3993.1			1126/2175	Mis|F|O				gliobastoma|ovarian|colorectal			p.G376R(3)|p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	c.(1126-1128)GGA>CGA			Gene3D:3.30.505.10,Pfam_domain:PF00017,PROSITE_profiles:PS50001,hmmpanther:PTHR10155,hmmpanther:PTHR10155:SF3,SMART_domains:SM00252,Superfamily_domains:SSF55550	phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)			ENSP00000428056		16-Oct									COSM3410365,COSM3410367,COSM3410366	16-Oct	.		ENST00000521381	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	ENSG00000145675	g.chr5:67589138G>C	8979			MODERATE		2.475	medium	getma.org/?cm=msa&ty=f&p=P85A_HUMAN&rb=333&re=408&var=G376R	getma.org/pdb.php?prot=P85A_HUMAN&from=333&to=408&var=G376R	getma.org/?cm=var&var=hg19,5,67589138,G,C&fts=all	G376R	--	--	1				TCGA GBM(4;<1E-08)																														PIK3R1_uc003jvb.2_Missense_Mutation_p.G376R|PIK3R1_uc003jvc.2_Missense_Mutation_p.G76R|PIK3R1_uc003jvd.2_Missense_Mutation_p.G106R|PIK3R1_uc003jve.2_Missense_Mutation_p.G55R|PIK3R1_uc011crb.1_Missense_Mutation_p.G46R	1,1,1	1		probably_damaging(1)	p.G376R	NM_181523	NP_852664		deleterious(0)	1,1,1	P85A_HUMAN	PIK3R1	HGNC	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	J7GXU7_HUMAN,J7GU64_HUMAN,E5RJY0_HUMAN,E5RHI0_HUMAN,E5RGI8_HUMAN,B3KWZ7_HUMAN		10	1686	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	UPI000013D9FF	376			SH2 1.		SNV	PIK3R1,missense_variant,p.Gly376Arg,ENST00000521381,NM_181523.2;PIK3R1,missense_variant,p.Gly376Arg,ENST00000396611,;PIK3R1,missense_variant,p.Gly376Arg,ENST00000274335,;PIK3R1,missense_variant,p.Gly376Arg,ENST00000521657,;PIK3R1,missense_variant,p.Gly76Arg,ENST00000320694,NM_181524.1;PIK3R1,missense_variant,p.Gly13Arg,ENST00000523872,NM_001242466.1;PIK3R1,missense_variant,p.Gly106Arg,ENST00000336483,NM_181504.3;PIK3R1,missense_variant,p.Gly49Arg,ENST00000519025,;PIK3R1,missense_variant,p.Gly106Arg,ENST00000523807,;PIK3R1,missense_variant,p.Gly13Arg,ENST00000521409,;PIK3R1,downstream_gene_variant,,ENST00000522084,;PIK3R1,3_prime_UTR_variant,,ENST00000517698,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000518813,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000520550,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000518292,;	uc003jva.2	c.1126G>C	1742/7011	4	4			c.1126G>C	Mis|F|O				gliobastoma|ovarian|colorectal	5	SNP	c.(1126-1128)GGA>CGA	46	46		p.G376R(3)|p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	Broad	phosphoinositide-3-kinase, regulatory subunit 1		Isoproterenol(DB01064)	67589138		0.308	ENSG00000145675	11721	g.chr5:67589138G>C	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding			370			370	-9.288668	KEEP	8	0	-1	73	67	8	0	-1	17.728834	73	67	0.054264	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(4;<1E-08)	0	C			PIK3R1_uc003jvb.2_Missense_Mutation_p.G376R|PIK3R1_uc003jvc.2_Missense_Mutation_p.G76R|PIK3R1_uc003jvd.2_Missense_Mutation_p.G106R|PIK3R1_uc003jve.2_Missense_Mutation_p.G55R|PIK3R1_uc011crb.1_Missense_Mutation_p.G46R	14	GBM-06-0128-TP	p.G376R	G	CAGGAAAGGGGGAAATAACAA	NM_181523	NP_852664	67589138	P27986	P85A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	10	1686	+	C	C		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	Missense_Mutation	376			SH2 1.			
PIK3R1	5295	broad.mit.edu	GRCh37	5	67591126	67591127	+	frameshift_variant	Frame_Shift_Del	DEL	GA	GA	-			TCGA-06-0129-01	TCGA-06-0129-01	GA	GA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274335.5:c.1721_1722del	p.Arg574LysfsTer27	p.R574Kfs*27	ENST00000274335		573	ctGAga/ctga	0			1			-	LR/LX	uc003jva.2	protein_coding	YES	CCDS3993.1			1719-1720/2175	Mis|F|O				gliobastoma|ovarian|colorectal			p.R574_T576del(2)|p.L570_D578del(1)|p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	c.(1717-1722)CTGAGAfs			Prints_domain:PR00678,hmmpanther:PTHR10155,hmmpanther:PTHR10155:SF3	phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)			ENSP00000428056		13/16									COSM2149512,COSM2149514,COSM2149513	13/16	.		ENST00000521381	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	ENSG00000145675	g.chr5:67591126_67591127delGA	8979	2		HIGH								--	--	1				TCGA GBM(4;<1E-08)																														PIK3R1_uc003jvb.2_Frame_Shift_Del_p.L573fs|PIK3R1_uc003jvc.2_Frame_Shift_Del_p.L273fs|PIK3R1_uc003jvd.2_Frame_Shift_Del_p.L303fs|PIK3R1_uc003jve.2_Frame_Shift_Del_p.L252fs|PIK3R1_uc011crb.1_Frame_Shift_Del_p.L243fs	1,1,1	1			p.L573fs	NM_181523	NP_852664			1,1,1	P85A_HUMAN	PIK3R1	HGNC	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	J7GXU7_HUMAN,J7GU64_HUMAN,E5RJY0_HUMAN,E5RHI0_HUMAN,E5RGI8_HUMAN,B3KWZ7_HUMAN		13	2279_2280	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	UPI000013D9FF	573_574					deletion	PIK3R1,frameshift_variant,p.Arg574LysfsTer27,ENST00000521381,NM_181523.2;PIK3R1,frameshift_variant,p.Arg574LysfsTer27,ENST00000396611,;PIK3R1,frameshift_variant,p.Arg574LysfsTer27,ENST00000274335,;PIK3R1,frameshift_variant,p.Arg574LysfsTer27,ENST00000521657,;PIK3R1,frameshift_variant,p.Arg274LysfsTer27,ENST00000320694,NM_181524.1;PIK3R1,frameshift_variant,p.Arg211LysfsTer27,ENST00000523872,NM_001242466.1;PIK3R1,frameshift_variant,p.Arg304LysfsTer27,ENST00000336483,NM_181504.3;PIK3R1,downstream_gene_variant,,ENST00000522084,;PIK3R1,downstream_gene_variant,,ENST00000519025,;PIK3R1,downstream_gene_variant,,ENST00000523807,;PIK3R1,downstream_gene_variant,,ENST00000521409,;PIK3R1,3_prime_UTR_variant,,ENST00000517698,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000518813,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000520550,;PIK3R1,downstream_gene_variant,,ENST00000518292,;	uc003jva.2	c.1719_1720delGA	2335-2336/7011	5	5			c.1719_1720delGA	Mis|F|O				gliobastoma|ovarian|colorectal	5	DEL	c.(1717-1722)CTGAGAfs	27	27		p.R574_T576del(2)|p.L570_D578del(1)|p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	Broad	phosphoinositide-3-kinase, regulatory subunit 1		Isoproterenol(DB01064)	67591127		0.381	ENSG00000145675	11721	g.chr5:67591126_67591127delGA	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding			370			370														0.43	1	1	0	1	0	0	0	0	0	--	--	TCGA GBM(4;<1E-08)	0	-			PIK3R1_uc003jvb.2_Frame_Shift_Del_p.L573fs|PIK3R1_uc003jvc.2_Frame_Shift_Del_p.L273fs|PIK3R1_uc003jvd.2_Frame_Shift_Del_p.L303fs|PIK3R1_uc003jve.2_Frame_Shift_Del_p.L252fs|PIK3R1_uc011crb.1_Frame_Shift_Del_p.L243fs	15	GBM-06-0129-TP	p.L573fs	GA	TTATCCAGCTGAGAAAGACGAG	NM_181523	NP_852664	67591126	P27986	P85A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	13	2279_2280	+	-	-		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	Frame_Shift_Del	573_574						
PIK3R1	5295	broad.mit.edu	GRCh37	5	67591135	67591136	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	rs149090706	byFrequency	TCGA-06-0190-01	TCGA-06-0190-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274335.5:c.1729dup	p.Arg577LysfsTer25	p.R577Kfs*25	ENST00000274335		576	-/A	0			1			A	-/X	uc003jva.2	protein_coding	YES	CCDS3993.1			1728-1729/2175	Mis|F|O				gliobastoma|ovarian|colorectal			p.T576del(3)|p.R574_T576del(2)|p.L570_D578del(1)|p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	c.(1726-1731)ACGAGAfs			hmmpanther:PTHR10155,hmmpanther:PTHR10155:SF3	phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)			ENSP00000428056		13/16										13/16	.		ENST00000521381	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	ENSG00000145675	g.chr5:67591135_67591136insA	8979	1		HIGH								--	--	1				TCGA GBM(4;<1E-08)																														PIK3R1_uc003jvb.2_Frame_Shift_Ins_p.T576fs|PIK3R1_uc003jvc.2_Frame_Shift_Ins_p.T276fs|PIK3R1_uc003jvd.2_Frame_Shift_Ins_p.T306fs|PIK3R1_uc003jve.2_Frame_Shift_Ins_p.T255fs|PIK3R1_uc011crb.1_Frame_Shift_Ins_p.T246fs		1			p.T576fs	NM_181523	NP_852664				P85A_HUMAN	PIK3R1	HGNC	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	J7GXU7_HUMAN,J7GU64_HUMAN,E5RJY0_HUMAN,E5RHI0_HUMAN,E5RGI8_HUMAN,B3KWZ7_HUMAN		13	2288_2289	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	UPI000013D9FF	576_577					insertion	PIK3R1,frameshift_variant,p.Arg577LysfsTer25,ENST00000521381,NM_181523.2;PIK3R1,frameshift_variant,p.Arg577LysfsTer25,ENST00000396611,;PIK3R1,frameshift_variant,p.Arg577LysfsTer25,ENST00000274335,;PIK3R1,frameshift_variant,p.Arg577LysfsTer25,ENST00000521657,;PIK3R1,frameshift_variant,p.Arg277LysfsTer25,ENST00000320694,NM_181524.1;PIK3R1,frameshift_variant,p.Arg214LysfsTer25,ENST00000523872,NM_001242466.1;PIK3R1,frameshift_variant,p.Arg307LysfsTer25,ENST00000336483,NM_181504.3;PIK3R1,downstream_gene_variant,,ENST00000522084,;PIK3R1,downstream_gene_variant,,ENST00000519025,;PIK3R1,downstream_gene_variant,,ENST00000523807,;PIK3R1,downstream_gene_variant,,ENST00000521409,;PIK3R1,3_prime_UTR_variant,,ENST00000517698,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000518813,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000520550,;PIK3R1,downstream_gene_variant,,ENST00000518292,;	uc003jva.2	c.1728_1729insA	2344-2345/7011	5	5			c.1728_1729insA	Mis|F|O				gliobastoma|ovarian|colorectal	5	INS	c.(1726-1731)ACGAGAfs	11	11		p.T576del(3)|p.R574_T576del(2)|p.L570_D578del(1)|p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	Broad	phosphoinositide-3-kinase, regulatory subunit 1		Isoproterenol(DB01064)	67591136		0.371	ENSG00000145675	11721	g.chr5:67591135_67591136insA	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding			370			370														0.06	1	0	0	1	1	0	0	0	0	--	--	TCGA GBM(4;<1E-08)	0	A			PIK3R1_uc003jvb.2_Frame_Shift_Ins_p.T576fs|PIK3R1_uc003jvc.2_Frame_Shift_Ins_p.T276fs|PIK3R1_uc003jvd.2_Frame_Shift_Ins_p.T306fs|PIK3R1_uc003jve.2_Frame_Shift_Ins_p.T255fs|PIK3R1_uc011crb.1_Frame_Shift_Ins_p.T246fs	43	GBM-06-0190-TP	p.T576fs	-	TGAGAAAGACGAGAGACCAATA	NM_181523	NP_852664	67591135	P27986	P85A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	13	2288_2289	+	A	A		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	Frame_Shift_Ins	576_577						
PIK3R1	5295	broad.mit.edu	GRCh37	5	67591246	67591246	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G			TCGA-06-0750-01	TCGA-06-0750-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274335.5:c.1746-2A>G		p.X582_splice	ENST00000274335		582		0			1			G		uc003jva.2	protein_coding	YES	CCDS3993.1			1746/2175	Mis|F|O				gliobastoma|ovarian|colorectal			p.?(2)|p.Y580fs*1(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	c.e14-2				phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)			ENSP00000428056											COSM246591,COSM1154514,COSM1154513		.		ENST00000521381	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	ENSG00000145675	g.chr5:67591246A>G	8979			HIGH	13/15							--	--	1				TCGA GBM(4;<1E-08)																														PIK3R1_uc003jvb.2_Splice_Site_p.M582_splice|PIK3R1_uc003jvc.2_Splice_Site_p.M282_splice|PIK3R1_uc003jvd.2_Splice_Site_p.M312_splice|PIK3R1_uc003jve.2_Splice_Site_p.M261_splice|PIK3R1_uc011crb.1_Splice_Site_p.M252_splice	1,1,1	1			p.M582_splice	NM_181523	NP_852664			1,1,1	P85A_HUMAN	PIK3R1	HGNC	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	J7GXU7_HUMAN,J7GU64_HUMAN,E5RJY0_HUMAN,E5RHI0_HUMAN,E5RGI8_HUMAN,B3KWZ7_HUMAN		14	2306	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	UPI000013D9FF						SNV	PIK3R1,splice_acceptor_variant,,ENST00000521381,NM_181523.2;PIK3R1,splice_acceptor_variant,,ENST00000396611,;PIK3R1,splice_acceptor_variant,,ENST00000274335,;PIK3R1,splice_acceptor_variant,,ENST00000521657,;PIK3R1,splice_acceptor_variant,,ENST00000320694,NM_181524.1;PIK3R1,splice_acceptor_variant,,ENST00000523872,NM_001242466.1;PIK3R1,splice_acceptor_variant,,ENST00000336483,NM_181504.3;PIK3R1,downstream_gene_variant,,ENST00000522084,;PIK3R1,downstream_gene_variant,,ENST00000519025,;PIK3R1,downstream_gene_variant,,ENST00000523807,;PIK3R1,downstream_gene_variant,,ENST00000521409,;PIK3R1,splice_acceptor_variant,,ENST00000518813,;PIK3R1,splice_acceptor_variant,,ENST00000520550,;PIK3R1,splice_acceptor_variant,,ENST00000517698,;PIK3R1,downstream_gene_variant,,ENST00000518292,;	uc003jva.2	c.1746_splice	-/7011	5	3			c.1746_splice	Mis|F|O				gliobastoma|ovarian|colorectal	5	SNP	c.e14-2	52	52		p.?(2)|p.Y580fs*1(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	Broad	phosphoinositide-3-kinase, regulatory subunit 1		Isoproterenol(DB01064)	67591246		0.363	ENSG00000145675	11721	g.chr5:67591246A>G	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding		(ONCODG1-Tumor)|(NIHOVCAR3-Tumor)|(OV56-Tumor)|(PF382-Tumor)	370		(ONCODG1-Tumor)|(NIHOVCAR3-Tumor)|(OV56-Tumor)|(PF382-Tumor)	370	79.277435	KEEP	20	9	-1	39	19	20	9	-1	80.918249	39	19	0.346154	1	0	0	0	0	0	0	0	1	--	--	TCGA GBM(4;<1E-08)	0	G			PIK3R1_uc003jvb.2_Splice_Site_p.M582_splice|PIK3R1_uc003jvc.2_Splice_Site_p.M282_splice|PIK3R1_uc003jvd.2_Splice_Site_p.M312_splice|PIK3R1_uc003jve.2_Splice_Site_p.M261_splice|PIK3R1_uc011crb.1_Splice_Site_p.M252_splice	70	GBM-06-0750-TP	p.M582_splice	A	ACTGTTTTTCAGGTGGTTGAC	NM_181523	NP_852664	67591246	P27986	P85A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	14	2306	+	G	G		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	Splice_Site							
PIK3R1	5295	broad.mit.edu	GRCh37	5	67589138	67589138	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274335.5:c.1126G>A	p.Gly376Arg	p.G376R	ENST00000274335		376	Gga/Aga	0			1			A	G/R	uc003jva.2	protein_coding	YES	CCDS3993.1			1126/2175	Mis|F|O				gliobastoma|ovarian|colorectal			p.G376R(3)|p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	c.(1126-1128)GGA>AGA			Gene3D:3.30.505.10,Pfam_domain:PF00017,PROSITE_profiles:PS50001,hmmpanther:PTHR10155,hmmpanther:PTHR10155:SF3,SMART_domains:SM00252,Superfamily_domains:SSF55550	phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)			ENSP00000428056		16-Oct									COSM35827,COSM1438285,COSM1438284	16-Oct	.		ENST00000521381	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	ENSG00000145675	g.chr5:67589138G>A	8979			MODERATE		2.475	medium	getma.org/?cm=msa&ty=f&p=P85A_HUMAN&rb=333&re=408&var=G376R	getma.org/pdb.php?prot=P85A_HUMAN&from=333&to=408&var=G376R	getma.org/?cm=var&var=hg19,5,67589138,G,A&fts=all	G376R	--	--	1				TCGA GBM(4;<1E-08)																														PIK3R1_uc003jvb.2_Missense_Mutation_p.G376R|PIK3R1_uc003jvc.2_Missense_Mutation_p.G76R|PIK3R1_uc003jvd.2_Missense_Mutation_p.G106R|PIK3R1_uc003jve.2_Missense_Mutation_p.G55R|PIK3R1_uc011crb.1_Missense_Mutation_p.G46R	1,1,1	1		probably_damaging(1)	p.G376R	NM_181523	NP_852664		deleterious(0)	1,1,1	P85A_HUMAN	PIK3R1	HGNC	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	J7GXU7_HUMAN,J7GU64_HUMAN,E5RJY0_HUMAN,E5RHI0_HUMAN,E5RGI8_HUMAN,B3KWZ7_HUMAN		10	1686	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	UPI000013D9FF	376			SH2 1.		SNV	PIK3R1,missense_variant,p.Gly376Arg,ENST00000521381,NM_181523.2;PIK3R1,missense_variant,p.Gly376Arg,ENST00000396611,;PIK3R1,missense_variant,p.Gly376Arg,ENST00000274335,;PIK3R1,missense_variant,p.Gly376Arg,ENST00000521657,;PIK3R1,missense_variant,p.Gly76Arg,ENST00000320694,NM_181524.1;PIK3R1,missense_variant,p.Gly13Arg,ENST00000523872,NM_001242466.1;PIK3R1,missense_variant,p.Gly106Arg,ENST00000336483,NM_181504.3;PIK3R1,missense_variant,p.Gly49Arg,ENST00000519025,;PIK3R1,missense_variant,p.Gly106Arg,ENST00000523807,;PIK3R1,missense_variant,p.Gly13Arg,ENST00000521409,;PIK3R1,downstream_gene_variant,,ENST00000522084,;PIK3R1,3_prime_UTR_variant,,ENST00000517698,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000518813,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000520550,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000518292,;	uc003jva.2	c.1126G>A	1742/7011	2	2			c.1126G>A	Mis|F|O				gliobastoma|ovarian|colorectal	5	SNP	c.(1126-1128)GGA>AGA	46	46		p.G376R(3)|p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	Broad	phosphoinositide-3-kinase, regulatory subunit 1		Isoproterenol(DB01064)	67589138		0.308	ENSG00000145675	11721	g.chr5:67589138G>A	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding			370			370	106.089399	KEEP	24	16	-1	34	46	24	16	-1	109.186543	34	46	0.321101	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(4;<1E-08)	0	A			PIK3R1_uc003jvb.2_Missense_Mutation_p.G376R|PIK3R1_uc003jvc.2_Missense_Mutation_p.G76R|PIK3R1_uc003jvd.2_Missense_Mutation_p.G106R|PIK3R1_uc003jve.2_Missense_Mutation_p.G55R|PIK3R1_uc011crb.1_Missense_Mutation_p.G46R	73	GBM-06-0877-TP	p.G376R	G	CAGGAAAGGGGGAAATAACAA	NM_181523	NP_852664	67589138	P27986	P85A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	10	1686	+	A	A		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	Missense_Mutation	376			SH2 1.			
PIK3R1	5295	broad.mit.edu	GRCh37	5	67591125	67591125	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-2562-01	TCGA-06-2562-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274335.5:c.1718T>C	p.Leu573Pro	p.L573P	ENST00000274335		573	cTg/cCg	0			1			C	L/P	uc003jva.2	protein_coding	YES	CCDS3993.1			1718/2175	Mis|F|O				gliobastoma|ovarian|colorectal			p.L570_D578del(1)|p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	c.(1717-1719)CTG>CCG			Prints_domain:PR00678,hmmpanther:PTHR10155,hmmpanther:PTHR10155:SF3	phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)			ENSP00000428056		13/16									COSM1069619,COSM1154510,COSM1154509	13/16	.		ENST00000521381	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	ENSG00000145675	g.chr5:67591125T>C	8979			MODERATE		2.945	medium	getma.org/?cm=msa&ty=f&p=P85A_HUMAN&rb=409&re=608&var=L573P	getma.org/pdb.php?prot=P85A_HUMAN&from=409&to=608&var=L573P	getma.org/?cm=var&var=hg19,5,67591125,T,C&fts=all	L573P	--	--	1				TCGA GBM(4;<1E-08)																														PIK3R1_uc003jvb.2_Missense_Mutation_p.L573P|PIK3R1_uc003jvc.2_Missense_Mutation_p.L273P|PIK3R1_uc003jvd.2_Missense_Mutation_p.L303P|PIK3R1_uc003jve.2_Missense_Mutation_p.L252P|PIK3R1_uc011crb.1_Missense_Mutation_p.L243P	1,1,1	1		probably_damaging(0.995)	p.L573P	NM_181523	NP_852664		deleterious(0)	1,1,1	P85A_HUMAN	PIK3R1	HGNC	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	J7GXU7_HUMAN,J7GU64_HUMAN,E5RJY0_HUMAN,E5RHI0_HUMAN,E5RGI8_HUMAN,B3KWZ7_HUMAN		13	2278	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	UPI000013D9FF	573					SNV	PIK3R1,missense_variant,p.Leu573Pro,ENST00000521381,NM_181523.2;PIK3R1,missense_variant,p.Leu573Pro,ENST00000396611,;PIK3R1,missense_variant,p.Leu573Pro,ENST00000274335,;PIK3R1,missense_variant,p.Leu573Pro,ENST00000521657,;PIK3R1,missense_variant,p.Leu273Pro,ENST00000320694,NM_181524.1;PIK3R1,missense_variant,p.Leu210Pro,ENST00000523872,NM_001242466.1;PIK3R1,missense_variant,p.Leu303Pro,ENST00000336483,NM_181504.3;PIK3R1,downstream_gene_variant,,ENST00000522084,;PIK3R1,downstream_gene_variant,,ENST00000519025,;PIK3R1,downstream_gene_variant,,ENST00000523807,;PIK3R1,downstream_gene_variant,,ENST00000521409,;PIK3R1,3_prime_UTR_variant,,ENST00000517698,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000518813,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000520550,;PIK3R1,downstream_gene_variant,,ENST00000518292,;	uc003jva.2	c.1718T>C	2334/7011	4	4			c.1718T>C	Mis|F|O				gliobastoma|ovarian|colorectal	5	SNP	c.(1717-1719)CTG>CCG	42	42		p.L570_D578del(1)|p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	Broad	phosphoinositide-3-kinase, regulatory subunit 1		Isoproterenol(DB01064)	67591125		0.383	ENSG00000145675	11721	g.chr5:67591125T>C	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding			370			370	147.410782	KEEP	29	39	-1	61	85	29	39	-1	155.779332	61	85	0.274725	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(4;<1E-08)	0	C			PIK3R1_uc003jvb.2_Missense_Mutation_p.L573P|PIK3R1_uc003jvc.2_Missense_Mutation_p.L273P|PIK3R1_uc003jvd.2_Missense_Mutation_p.L303P|PIK3R1_uc003jve.2_Missense_Mutation_p.L252P|PIK3R1_uc011crb.1_Missense_Mutation_p.L243P	85	GBM-06-2562-TP	p.L573P	T	CTTATCCAGCTGAGAAAGACG	NM_181523	NP_852664	67591125	P27986	P85A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	13	2278	+	C	C		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	Missense_Mutation	573						
PIK3R1	5295	broad.mit.edu	GRCh37	5	67592121	67592121	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-6388-01	TCGA-06-6388-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274335.5:c.1937T>C	p.Phe646Ser	p.F646S	ENST00000274335		646	tTt/tCt	0			1			C	F/S	uc003jva.2	protein_coding	YES	CCDS3993.1			1937/2175	Mis|F|O				gliobastoma|ovarian|colorectal			p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	c.(1936-1938)TTT>TCT			Gene3D:3.30.505.10,Pfam_domain:PF00017,Prints_domain:PR00678,PROSITE_profiles:PS50001,hmmpanther:PTHR10155,hmmpanther:PTHR10155:SF3,SMART_domains:SM00252,Superfamily_domains:SSF55550	phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)			ENSP00000428056		15/16									COSM3410377,COSM3410379,COSM3410378	15/16	.		ENST00000521381	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	ENSG00000145675	g.chr5:67592121T>C	8979			MODERATE		4.575	high	getma.org/?cm=msa&ty=f&p=P85A_HUMAN&rb=624&re=698&var=F646S	getma.org/pdb.php?prot=P85A_HUMAN&from=624&to=698&var=F646S	getma.org/?cm=var&var=hg19,5,67592121,T,C&fts=all	F646S	--	--	1				TCGA GBM(4;<1E-08)																														PIK3R1_uc003jvb.2_Missense_Mutation_p.F646S|PIK3R1_uc003jvc.2_Missense_Mutation_p.F346S|PIK3R1_uc003jvd.2_Missense_Mutation_p.F376S|PIK3R1_uc003jve.2_Missense_Mutation_p.F325S	1,1,1	1		probably_damaging(1)	p.F646S	NM_181523	NP_852664		deleterious(0)	1,1,1	P85A_HUMAN	PIK3R1	HGNC	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	J7GXU7_HUMAN,J7GU64_HUMAN,E5RJY0_HUMAN,E5RHI0_HUMAN,E5RGI8_HUMAN,B3KWZ7_HUMAN		15	2497	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	UPI000013D9FF	646			SH2 2.		SNV	PIK3R1,missense_variant,p.Phe646Ser,ENST00000521381,NM_181523.2;PIK3R1,missense_variant,p.Phe654Ser,ENST00000396611,;PIK3R1,missense_variant,p.Phe646Ser,ENST00000274335,;PIK3R1,missense_variant,p.Phe646Ser,ENST00000521657,;PIK3R1,missense_variant,p.Phe346Ser,ENST00000320694,NM_181524.1;PIK3R1,missense_variant,p.Phe283Ser,ENST00000523872,NM_001242466.1;PIK3R1,missense_variant,p.Phe376Ser,ENST00000336483,NM_181504.3;PIK3R1,downstream_gene_variant,,ENST00000522084,;PIK3R1,downstream_gene_variant,,ENST00000519025,;PIK3R1,downstream_gene_variant,,ENST00000523807,;PIK3R1,downstream_gene_variant,,ENST00000521409,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000518813,;PIK3R1,downstream_gene_variant,,ENST00000520550,;PIK3R1,downstream_gene_variant,,ENST00000517698,;PIK3R1,downstream_gene_variant,,ENST00000518292,;	uc003jva.2	c.1937T>C	2553/7011	3	3			c.1937T>C	Mis|F|O				gliobastoma|ovarian|colorectal	5	SNP	c.(1936-1938)TTT>TCT	3	3		p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	Broad	phosphoinositide-3-kinase, regulatory subunit 1		Isoproterenol(DB01064)	67592121		0.453	ENSG00000145675	11721	g.chr5:67592121T>C	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding			370			370	139.221973	KEEP	17	34	-1	50	56	17	34	-1	142.423435	50	56	0.335821	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(4;<1E-08)	0	C			PIK3R1_uc003jvb.2_Missense_Mutation_p.F646S|PIK3R1_uc003jvc.2_Missense_Mutation_p.F346S|PIK3R1_uc003jvd.2_Missense_Mutation_p.F376S|PIK3R1_uc003jve.2_Missense_Mutation_p.F325S	104	GBM-06-6388-TP	p.F646S	T	GATGGCACTTTTCTTGTCCGG	NM_181523	NP_852664	67592121	P27986	P85A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	15	2497	+	C	C		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	Missense_Mutation	646			SH2 2.			
PIK3R1	0	broad.mit.edu	GRCh37	5	67589149	67589151	+	inframe_deletion	In_Frame_Del	DEL	ATT	ATT	-			TCGA-06-6695-01	TCGA-06-6695-01	ATT	ATT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521381.1:c.1138_1140delTTA	p.Leu380del	p.L380del	ENST00000521381	NM_181523.2	379	aaATTa/aaa	0			1			-	KL/K	uc003jva.2	protein_coding	YES	CCDS3993.1			1137-1139/2175	Mis|F|O				gliobastoma|ovarian|colorectal			p.L380del(1)|p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	c.(1135-1140)AAATTA>AAA			Gene3D:3.30.505.10,Pfam_domain:PF00017,PROSITE_profiles:PS50001,hmmpanther:PTHR10155,hmmpanther:PTHR10155:SF3,SMART_domains:SM00252,Superfamily_domains:SSF55550	phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)			ENSP00000428056		16-Oct										16-Oct	.		ENST00000521381	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	ENSG00000145675	g.chr5:67589149_67589151delATT	8979	1		MODERATE								--	--	1				TCGA GBM(4;<1E-08)																														PIK3R1_uc003jvb.2_In_Frame_Del_p.L380del|PIK3R1_uc003jvc.2_In_Frame_Del_p.L80del|PIK3R1_uc003jvd.2_In_Frame_Del_p.L110del|PIK3R1_uc003jve.2_In_Frame_Del_p.L59del|PIK3R1_uc011crb.1_In_Frame_Del_p.L50del		1			p.L380del	NM_181523	NP_852664				P85A_HUMAN	PIK3R1	HGNC	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	J7GXU7_HUMAN,J7GU64_HUMAN,E5RJY0_HUMAN,E5RHI0_HUMAN,E5RGI8_HUMAN,B3KWZ7_HUMAN		10	1697_1699	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	UPI000013D9FF	380			SH2 1.		deletion	PIK3R1,inframe_deletion,p.Leu380del,ENST00000521381,NM_181523.2;PIK3R1,inframe_deletion,p.Leu380del,ENST00000396611,;PIK3R1,inframe_deletion,p.Leu380del,ENST00000274335,;PIK3R1,inframe_deletion,p.Leu380del,ENST00000521657,;PIK3R1,inframe_deletion,p.Leu80del,ENST00000320694,NM_181524.1;PIK3R1,inframe_deletion,p.Leu17del,ENST00000523872,NM_001242466.1;PIK3R1,inframe_deletion,p.Leu110del,ENST00000336483,NM_181504.3;PIK3R1,inframe_deletion,p.Leu53del,ENST00000519025,;PIK3R1,inframe_deletion,p.Leu110del,ENST00000523807,;PIK3R1,inframe_deletion,p.Leu17del,ENST00000521409,;PIK3R1,downstream_gene_variant,,ENST00000522084,;PIK3R1,3_prime_UTR_variant,,ENST00000517698,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000518813,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000520550,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000518292,;	uc003jva.2	c.1137_1139delATT	1753-1755/7011	5	5			c.1137_1139delATT	Mis|F|O				gliobastoma|ovarian|colorectal	5	DEL	c.(1135-1140)AAATTA>AAA	61	61		p.L380del(1)|p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	Broad	phosphoinositide-3-kinase, regulatory subunit 1		Isoproterenol(DB01064)	67589151		0.305	ENSG00000145675	11721	g.chr5:67589149_67589151delATT	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding		p.L380del(DAOY-Tumor)	370		p.L380del(DAOY-Tumor)	370														0.38	1	1	0	1	0	0	0	0	0	--	--	TCGA GBM(4;<1E-08)	0	-			PIK3R1_uc003jvb.2_In_Frame_Del_p.L380del|PIK3R1_uc003jvc.2_In_Frame_Del_p.L80del|PIK3R1_uc003jvd.2_In_Frame_Del_p.L110del|PIK3R1_uc003jve.2_In_Frame_Del_p.L59del|PIK3R1_uc011crb.1_In_Frame_Del_p.L50del	110	GBM-06-6695-TP	p.L380del	ATT	GAAATAACAAATTAATCAAAATA	NM_181523	NP_852664	67589149	P27986	P85A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	10	1697_1699	+	-	-		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	In_Frame_Del	380			SH2 1.			
PIK3R1	0	broad.mit.edu	GRCh37	5	67591086	67591086	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-12-0688-01	TCGA-12-0688-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521381.1:c.1679A>G	p.Asp560Gly	p.D560G	ENST00000521381	NM_181523.2	560	gAc/gGc	0			1			G	D/G	uc003jva.2	protein_coding	YES	CCDS3993.1			1679/2175	Mis|F|O				gliobastoma|ovarian|colorectal			p.D560_S565del(1)|p.R557_K561>Q(1)|p.D560Y(1)|p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	c.(1678-1680)GAC>GGC			Coiled-coils_(Ncoils):Coil,Prints_domain:PR00678,hmmpanther:PTHR10155,hmmpanther:PTHR10155:SF3	phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)			ENSP00000428056		13/16									COSM1438323,COSM1438325,COSM1438324	13/16	.		ENST00000521381	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	ENSG00000145675	g.chr5:67591086A>G	8979			MODERATE		2.71	medium	getma.org/?cm=msa&ty=f&p=P85A_HUMAN&rb=409&re=608&var=D560G	getma.org/pdb.php?prot=P85A_HUMAN&from=409&to=608&var=D560G	getma.org/?cm=var&var=hg19,5,67591086,A,G&fts=all	D560G	--	--	1				TCGA GBM(4;<1E-08)																														PIK3R1_uc003jvb.2_Missense_Mutation_p.D560G|PIK3R1_uc003jvc.2_Missense_Mutation_p.D260G|PIK3R1_uc003jvd.2_Missense_Mutation_p.D290G|PIK3R1_uc003jve.2_Missense_Mutation_p.D239G|PIK3R1_uc011crb.1_Missense_Mutation_p.D230G	1,1,1	1		probably_damaging(0.977)	p.D560G	NM_181523	NP_852664		deleterious(0)	1,1,1	P85A_HUMAN	PIK3R1	HGNC	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	J7GXU7_HUMAN,J7GU64_HUMAN,E5RJY0_HUMAN,E5RHI0_HUMAN,E5RGI8_HUMAN,B3KWZ7_HUMAN		13	2239	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	UPI000013D9FF	560					SNV	PIK3R1,missense_variant,p.Asp560Gly,ENST00000521381,NM_181523.2;PIK3R1,missense_variant,p.Asp560Gly,ENST00000396611,;PIK3R1,missense_variant,p.Asp560Gly,ENST00000274335,;PIK3R1,missense_variant,p.Asp560Gly,ENST00000521657,;PIK3R1,missense_variant,p.Asp260Gly,ENST00000320694,NM_181524.1;PIK3R1,missense_variant,p.Asp197Gly,ENST00000523872,NM_001242466.1;PIK3R1,missense_variant,p.Asp290Gly,ENST00000336483,NM_181504.3;PIK3R1,downstream_gene_variant,,ENST00000522084,;PIK3R1,downstream_gene_variant,,ENST00000519025,;PIK3R1,downstream_gene_variant,,ENST00000523807,;PIK3R1,downstream_gene_variant,,ENST00000521409,;PIK3R1,3_prime_UTR_variant,,ENST00000517698,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000518813,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000520550,;PIK3R1,downstream_gene_variant,,ENST00000518292,;	uc003jva.2	c.1679A>G	2295/7011	3	3			c.1679A>G	Mis|F|O				gliobastoma|ovarian|colorectal	5	SNP	c.(1678-1680)GAC>GGC	59	59		p.D560_S565del(1)|p.R557_K561>Q(1)|p.D560Y(1)|p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	Broad	phosphoinositide-3-kinase, regulatory subunit 1		Isoproterenol(DB01064)	67591086		0.358	ENSG00000145675	11721	g.chr5:67591086A>G	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding		p.557_561REIDK>Q(AN3CA-Tumor)	370		p.557_561REIDK>Q(AN3CA-Tumor)	370	163.089217	KEEP	24	30	-1	42	48	24	30	-1	164.859603	42	48	0.377778	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(4;<1E-08)	0	G			PIK3R1_uc003jvb.2_Missense_Mutation_p.D560G|PIK3R1_uc003jvc.2_Missense_Mutation_p.D260G|PIK3R1_uc003jvd.2_Missense_Mutation_p.D290G|PIK3R1_uc003jve.2_Missense_Mutation_p.D239G|PIK3R1_uc011crb.1_Missense_Mutation_p.D230G	121	GBM-12-0688-TP	p.D560G	A	CGAGAAATTGACAAACGTATG	NM_181523	NP_852664	67591086	P27986	P85A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	13	2239	+	G	G		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	Missense_Mutation	560						
PIK3R1	0	broad.mit.edu	GRCh37	5	67576379	67576379	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-14-0790-01	TCGA-14-0790-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521381.1:c.658A>T	p.Ile220Phe	p.I220F	ENST00000521381	NM_181523.2	220	Att/Ttt	0			1			T	I/F	uc003jva.2	protein_coding	YES	CCDS3993.1			658/2175	Mis|F|O				gliobastoma|ovarian|colorectal			p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	c.(658-660)ATT>TTT			Gene3D:1.10.555.10,Pfam_domain:PF00620,PROSITE_profiles:PS50238,hmmpanther:PTHR10155,hmmpanther:PTHR10155:SF3,SMART_domains:SM00324,Superfamily_domains:SSF48350	phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)			ENSP00000428056		16-Jun	8.24E-06							6.06E-05	rs756172158,COSM3748306	16-Jun	.		ENST00000521381	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	ENSG00000145675	g.chr5:67576379A>T	8979			MODERATE		1.07	low	getma.org/?cm=msa&ty=f&p=P85A_HUMAN&rb=129&re=282&var=I220F	getma.org/pdb.php?prot=P85A_HUMAN&from=129&to=282&var=I220F	getma.org/?cm=var&var=hg19,5,67576379,A,T&fts=all	I220F	--	--	1				TCGA GBM(4;<1E-08)																														PIK3R1_uc003jvb.2_Missense_Mutation_p.I220F	0,1	1		benign(0.164)	p.I220F	NM_181523	NP_852664		deleterious(0.02)	0,1	P85A_HUMAN	PIK3R1	HGNC	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	J7GXU7_HUMAN,J7GU64_HUMAN,E5RJY0_HUMAN,E5RHI0_HUMAN,E5RGI8_HUMAN,B3KWZ7_HUMAN		6	1218	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	UPI000013D9FF	220			Rho-GAP.		SNV	PIK3R1,missense_variant,p.Ile220Phe,ENST00000521381,NM_181523.2;PIK3R1,missense_variant,p.Ile220Phe,ENST00000396611,;PIK3R1,missense_variant,p.Ile220Phe,ENST00000274335,;PIK3R1,missense_variant,p.Ile220Phe,ENST00000521657,;PIK3R1,missense_variant,p.Ile122Phe,ENST00000520675,;PIK3R1,5_prime_UTR_variant,,ENST00000522084,;PIK3R1,5_prime_UTR_variant,,ENST00000523807,;	uc003jva.2	c.658A>T	1274/7011	2	2			c.658A>T	Mis|F|O				gliobastoma|ovarian|colorectal	5	SNP	c.(658-660)ATT>TTT	41	41		p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	Broad	phosphoinositide-3-kinase, regulatory subunit 1		Isoproterenol(DB01064)	67576379		0.343	ENSG00000145675	11721	g.chr5:67576379A>T	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding			370			370	439.988054	KEEP	90	73	-1	109	98	90	73	-1	441.716368	109	98	0.421538	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(4;<1E-08)	0	T			PIK3R1_uc003jvb.2_Missense_Mutation_p.I220F	137	GBM-14-0790-TP	p.I220F	A	CGAAGAATATATTCAGCTATT	NM_181523	NP_852664	67576379	P27986	P85A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	6	1218	+	T	T		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	Missense_Mutation	220			Rho-GAP.			
PIK3R1	0	broad.mit.edu	GRCh37	5	67589147	67589147	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-1456-01	TCGA-14-1456-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521381.1:c.1135A>G	p.Lys379Glu	p.K379E	ENST00000521381	NM_181523.2	379	Aaa/Gaa	0			1			G	K/E	uc003jva.2	protein_coding	YES	CCDS3993.1			1135/2175	Mis|F|O				gliobastoma|ovarian|colorectal			p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	c.(1135-1137)AAA>GAA			Gene3D:3.30.505.10,Pfam_domain:PF00017,PROSITE_profiles:PS50001,hmmpanther:PTHR10155,hmmpanther:PTHR10155:SF3,SMART_domains:SM00252,Superfamily_domains:SSF55550	phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)			ENSP00000428056		16-Oct									COSM2155617,COSM2155619,COSM2155618	16-Oct	.		ENST00000521381	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	ENSG00000145675	g.chr5:67589147A>G	8979			MODERATE		2.735	medium	getma.org/?cm=msa&ty=f&p=P85A_HUMAN&rb=333&re=408&var=K379E	getma.org/pdb.php?prot=P85A_HUMAN&from=333&to=408&var=K379E	getma.org/?cm=var&var=hg19,5,67589147,A,G&fts=all	K379E	--	--	1				TCGA GBM(4;<1E-08)																														PIK3R1_uc003jvb.2_Missense_Mutation_p.K379E|PIK3R1_uc003jvc.2_Missense_Mutation_p.K79E|PIK3R1_uc003jvd.2_Missense_Mutation_p.K109E|PIK3R1_uc003jve.2_Missense_Mutation_p.K58E|PIK3R1_uc011crb.1_Missense_Mutation_p.K49E	1,1,1	1		probably_damaging(1)	p.K379E	NM_181523	NP_852664		deleterious(0)	1,1,1	P85A_HUMAN	PIK3R1	HGNC	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	J7GXU7_HUMAN,J7GU64_HUMAN,E5RJY0_HUMAN,E5RHI0_HUMAN,E5RGI8_HUMAN,B3KWZ7_HUMAN		10	1695	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	UPI000013D9FF	379			SH2 1.		SNV	PIK3R1,missense_variant,p.Lys379Glu,ENST00000521381,NM_181523.2;PIK3R1,missense_variant,p.Lys379Glu,ENST00000396611,;PIK3R1,missense_variant,p.Lys379Glu,ENST00000274335,;PIK3R1,missense_variant,p.Lys379Glu,ENST00000521657,;PIK3R1,missense_variant,p.Lys79Glu,ENST00000320694,NM_181524.1;PIK3R1,missense_variant,p.Lys16Glu,ENST00000523872,NM_001242466.1;PIK3R1,missense_variant,p.Lys109Glu,ENST00000336483,NM_181504.3;PIK3R1,missense_variant,p.Lys52Glu,ENST00000519025,;PIK3R1,missense_variant,p.Lys109Glu,ENST00000523807,;PIK3R1,missense_variant,p.Lys16Glu,ENST00000521409,;PIK3R1,downstream_gene_variant,,ENST00000522084,;PIK3R1,3_prime_UTR_variant,,ENST00000517698,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000518813,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000520550,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000518292,;	uc003jva.2	c.1135A>G	1751/7011	3	3			c.1135A>G	Mis|F|O				gliobastoma|ovarian|colorectal	5	SNP	c.(1135-1137)AAA>GAA	64	64		p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	Broad	phosphoinositide-3-kinase, regulatory subunit 1		Isoproterenol(DB01064)	67589147		0.308	ENSG00000145675	11721	g.chr5:67589147A>G	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding			370			370	44.232517	KEEP	10	10	-1	32	39	10	10	-1	50.146326	32	39	0.21519	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(4;<1E-08)	0	G			PIK3R1_uc003jvb.2_Missense_Mutation_p.K379E|PIK3R1_uc003jvc.2_Missense_Mutation_p.K79E|PIK3R1_uc003jvd.2_Missense_Mutation_p.K109E|PIK3R1_uc003jve.2_Missense_Mutation_p.K58E|PIK3R1_uc011crb.1_Missense_Mutation_p.K49E	146	GBM-14-1456-TP	p.K379E	A	GGGAAATAACAAATTAATCAA	NM_181523	NP_852664	67589147	P27986	P85A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	10	1695	+	G	G		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	Missense_Mutation	379			SH2 1.			
PIK3R1	0	broad.mit.edu	GRCh37	5	67591098	67591109	+	inframe_deletion	In_Frame_Del	DEL	ACAGCATTAAAC	ACAGCATTAAAC	-			TCGA-15-1444-01	TCGA-15-1444-01	ACAGCATTAAAC	ACAGCATTAAAC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521381.1:c.1691_1702delACAGCATTAAAC	p.Asn564_Pro568delinsThr	p.N564_P568delinsT	ENST00000521381	NM_181523.2	564	aACAGCATTAAACca/aca	0			1			-	NSIKP/T	uc003jva.2	protein_coding	YES	CCDS3993.1			1691-1702/2175	Mis|F|O				gliobastoma|ovarian|colorectal			p.N564D(3)|p.D560_S565del(1)|p.N564K(1)|p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	c.(1690-1704)AACAGCATTAAACCA>ACA			Prints_domain:PR00678,hmmpanther:PTHR10155,hmmpanther:PTHR10155:SF3	phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)			ENSP00000428056		13/16										13/16	.		ENST00000521381	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	ENSG00000145675	g.chr5:67591098_67591109delACAGCATTAAAC	8979			MODERATE								--	--	1				TCGA GBM(4;<1E-08)																														PIK3R1_uc003jvb.2_In_Frame_Del_p.564_568NSIKP>T|PIK3R1_uc003jvc.2_In_Frame_Del_p.264_268NSIKP>T|PIK3R1_uc003jvd.2_In_Frame_Del_p.294_298NSIKP>T|PIK3R1_uc003jve.2_In_Frame_Del_p.243_247NSIKP>T|PIK3R1_uc011crb.1_In_Frame_Del_p.234_238NSIKP>T		1			p.564_568NSIKP>T	NM_181523	NP_852664				P85A_HUMAN	PIK3R1	HGNC	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	J7GXU7_HUMAN,J7GU64_HUMAN,E5RJY0_HUMAN,E5RHI0_HUMAN,E5RGI8_HUMAN,B3KWZ7_HUMAN		13	2251_2262	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	UPI000013D9FF	564_568					deletion	PIK3R1,inframe_deletion,p.Asn564_Pro568delinsThr,ENST00000521381,NM_181523.2;PIK3R1,inframe_deletion,p.Asn564_Pro568delinsThr,ENST00000396611,;PIK3R1,inframe_deletion,p.Asn564_Pro568delinsThr,ENST00000274335,;PIK3R1,inframe_deletion,p.Asn564_Pro568delinsThr,ENST00000521657,;PIK3R1,inframe_deletion,p.Asn264_Pro268delinsThr,ENST00000320694,NM_181524.1;PIK3R1,inframe_deletion,p.Asn201_Pro205delinsThr,ENST00000523872,NM_001242466.1;PIK3R1,inframe_deletion,p.Asn294_Pro298delinsThr,ENST00000336483,NM_181504.3;PIK3R1,downstream_gene_variant,,ENST00000522084,;PIK3R1,downstream_gene_variant,,ENST00000519025,;PIK3R1,downstream_gene_variant,,ENST00000523807,;PIK3R1,downstream_gene_variant,,ENST00000521409,;PIK3R1,3_prime_UTR_variant,,ENST00000517698,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000518813,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000520550,;PIK3R1,downstream_gene_variant,,ENST00000518292,;	uc003jva.2	c.1691_1702delACAGCATTAAAC	2307-2318/7011	5	5			c.1691_1702delACAGCATTAAAC	Mis|F|O				gliobastoma|ovarian|colorectal	5	DEL	c.(1690-1704)AACAGCATTAAACCA>ACA	11	11		p.N564D(3)|p.D560_S565del(1)|p.N564K(1)|p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	Broad	phosphoinositide-3-kinase, regulatory subunit 1		Isoproterenol(DB01064)	67591109		0.373	ENSG00000145675	11721	g.chr5:67591098_67591109delACAGCATTAAAC	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding		p.K567E(HEC59-Tumor)|p.K567E(BL70-Tumor)|p.K567E(EB2-Tumor)	370		p.K567E(HEC59-Tumor)|p.K567E(BL70-Tumor)|p.K567E(EB2-Tumor)	370														0.19	1	1	0	1	0	0	0	0	0	--	--	TCGA GBM(4;<1E-08)	0	-			PIK3R1_uc003jvb.2_In_Frame_Del_p.564_568NSIKP>T|PIK3R1_uc003jvc.2_In_Frame_Del_p.264_268NSIKP>T|PIK3R1_uc003jvd.2_In_Frame_Del_p.294_298NSIKP>T|PIK3R1_uc003jve.2_In_Frame_Del_p.243_247NSIKP>T|PIK3R1_uc011crb.1_In_Frame_Del_p.234_238NSIKP>T	154	GBM-15-1444-TP	p.564_568NSIKP>T	ACAGCATTAAAC	AAACGTATGAACAGCATTAAACCAGACCTTAT	NM_181523	NP_852664	67591098	P27986	P85A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	13	2251_2262	+	-	-		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	In_Frame_Del	564_568						
PIK3R1	0	broad.mit.edu	GRCh37	5	67589619	67589621	+	inframe_deletion	In_Frame_Del	DEL	GAG	GAG	-			TCGA-19-2629-01	TCGA-19-2629-01	GAG	GAG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521381.1:c.1382_1384delGAG	p.Arg461_Glu462delinsGln	p.R461_E462delinsQ	ENST00000521381	NM_181523.2	461	cGAGaa/caa	0			1			-	RE/Q	uc003jva.2	protein_coding	YES	CCDS3993.1			1382-1384/2175	Mis|F|O				gliobastoma|ovarian|colorectal			p.D434_Q475del(2)|p.?(1)|p.F456_R461>S(1)|p.Q457_R461del(1)|p.F456_R461del(1)|p.R461*(1)|p.T454_D464del(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	c.(1381-1386)CGAGAA>CAA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10155,hmmpanther:PTHR10155:SF3	phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)			ENSP00000428056		16-Nov										16-Nov	.		ENST00000521381	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	ENSG00000145675	g.chr5:67589619_67589621delGAG	8979			MODERATE								--	--	1				TCGA GBM(4;<1E-08)																														PIK3R1_uc003jvb.2_In_Frame_Del_p.461_462RE>Q|PIK3R1_uc003jvc.2_In_Frame_Del_p.161_162RE>Q|PIK3R1_uc003jvd.2_In_Frame_Del_p.191_192RE>Q|PIK3R1_uc003jve.2_In_Frame_Del_p.140_141RE>Q|PIK3R1_uc011crb.1_In_Frame_Del_p.131_132RE>Q		1			p.461_462RE>Q	NM_181523	NP_852664				P85A_HUMAN	PIK3R1	HGNC	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	J7GXU7_HUMAN,J7GU64_HUMAN,E5RJY0_HUMAN,E5RHI0_HUMAN,E5RGI8_HUMAN,B3KWZ7_HUMAN		11	1942_1944	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	UPI000013D9FF	461_462					deletion	PIK3R1,inframe_deletion,p.Arg461_Glu462delinsGln,ENST00000521381,NM_181523.2;PIK3R1,inframe_deletion,p.Arg461_Glu462delinsGln,ENST00000396611,;PIK3R1,inframe_deletion,p.Arg461_Glu462delinsGln,ENST00000274335,;PIK3R1,inframe_deletion,p.Arg461_Glu462delinsGln,ENST00000521657,;PIK3R1,inframe_deletion,p.Arg161_Glu162delinsGln,ENST00000320694,NM_181524.1;PIK3R1,inframe_deletion,p.Arg98_Glu99delinsGln,ENST00000523872,NM_001242466.1;PIK3R1,inframe_deletion,p.Arg191_Glu192delinsGln,ENST00000336483,NM_181504.3;PIK3R1,inframe_deletion,p.Arg134_Glu135delinsGln,ENST00000519025,;PIK3R1,inframe_deletion,p.Arg98_Glu99delinsGln,ENST00000521409,;PIK3R1,downstream_gene_variant,,ENST00000522084,;PIK3R1,downstream_gene_variant,,ENST00000523807,;PIK3R1,3_prime_UTR_variant,,ENST00000517698,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000518813,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000520550,;PIK3R1,downstream_gene_variant,,ENST00000518292,;	uc003jva.2	c.1382_1384delGAG	1998-2000/7011	5	5			c.1382_1384delGAG	Mis|F|O				gliobastoma|ovarian|colorectal	5	DEL	c.(1381-1386)CGAGAA>CAA	55	55		p.D434_Q475del(2)|p.?(1)|p.F456_R461>S(1)|p.Q457_R461del(1)|p.F456_R461del(1)|p.R461*(1)|p.T454_D464del(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	Broad	phosphoinositide-3-kinase, regulatory subunit 1		Isoproterenol(DB01064)	67589621		0.281	ENSG00000145675	11721	g.chr5:67589619_67589621delGAG	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding			370			370														0.34	1	1	0	1	0	0	0	0	0	--	--	TCGA GBM(4;<1E-08)	0	-			PIK3R1_uc003jvb.2_In_Frame_Del_p.461_462RE>Q|PIK3R1_uc003jvc.2_In_Frame_Del_p.161_162RE>Q|PIK3R1_uc003jvd.2_In_Frame_Del_p.191_192RE>Q|PIK3R1_uc003jve.2_In_Frame_Del_p.140_141RE>Q|PIK3R1_uc011crb.1_In_Frame_Del_p.131_132RE>Q	166	GBM-19-2629-TP	p.461_462RE>Q	GAG	GAAAAAAGTCGAGAATATGATAG	NM_181523	NP_852664	67589619	P27986	P85A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	11	1942_1944	+	-	-		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	In_Frame_Del	461_462						
PIK3R1	0	broad.mit.edu	GRCh37	5	67591152	67591152	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-19-5947-01	TCGA-19-5947-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521381.1:c.1745delT	p.Met582SerfsTer3	p.M582Sfs*3	ENST00000521381	NM_181523.2	582	aTg/ag	0			1			-	M/X	uc003jva.2	protein_coding	YES	CCDS3993.1			1745/2175	Mis|F|O				gliobastoma|ovarian|colorectal			p.M582_D605>I(4)|p.R577_M582>K(1)|p.Y580fs*1(1)|p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	c.(1744-1746)ATGfs			Prints_domain:PR00678,hmmpanther:PTHR10155,hmmpanther:PTHR10155:SF3	phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)			ENSP00000428056		13/16									COSM2156518,COSM2156520,COSM2156519	13/16	.		ENST00000521381	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	ENSG00000145675	g.chr5:67591152delT	8979			HIGH								--	--	1				TCGA GBM(4;<1E-08)																														PIK3R1_uc003jvb.2_Frame_Shift_Del_p.M582fs|PIK3R1_uc003jvc.2_Frame_Shift_Del_p.M282fs|PIK3R1_uc003jvd.2_Frame_Shift_Del_p.M312fs|PIK3R1_uc003jve.2_Frame_Shift_Del_p.M261fs|PIK3R1_uc011crb.1_Frame_Shift_Del_p.M252fs	1,1,1	1			p.M582fs	NM_181523	NP_852664			1,1,1	P85A_HUMAN	PIK3R1	HGNC	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	J7GXU7_HUMAN,J7GU64_HUMAN,E5RJY0_HUMAN,E5RHI0_HUMAN,E5RGI8_HUMAN,B3KWZ7_HUMAN		13	2305	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	UPI000013D9FF	582					deletion	PIK3R1,frameshift_variant,p.Met582SerfsTer3,ENST00000521381,NM_181523.2;PIK3R1,frameshift_variant,p.Met582SerfsTer3,ENST00000396611,;PIK3R1,frameshift_variant,p.Met582SerfsTer3,ENST00000274335,;PIK3R1,frameshift_variant,p.Met582SerfsTer3,ENST00000521657,;PIK3R1,frameshift_variant,p.Met282SerfsTer3,ENST00000320694,NM_181524.1;PIK3R1,frameshift_variant,p.Met219SerfsTer3,ENST00000523872,NM_001242466.1;PIK3R1,frameshift_variant,p.Met312SerfsTer3,ENST00000336483,NM_181504.3;PIK3R1,downstream_gene_variant,,ENST00000522084,;PIK3R1,downstream_gene_variant,,ENST00000519025,;PIK3R1,downstream_gene_variant,,ENST00000523807,;PIK3R1,downstream_gene_variant,,ENST00000521409,;PIK3R1,splice_region_variant,,ENST00000518813,;PIK3R1,splice_region_variant,,ENST00000520550,;PIK3R1,splice_region_variant,,ENST00000517698,;PIK3R1,downstream_gene_variant,,ENST00000518292,;	uc003jva.2	c.1745delT	2361/7011	5	5			c.1745delT	Mis|F|O				gliobastoma|ovarian|colorectal	5	DEL	c.(1744-1746)ATGfs	64	64		p.M582_D605>I(4)|p.R577_M582>K(1)|p.Y580fs*1(1)|p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	Broad	phosphoinositide-3-kinase, regulatory subunit 1		Isoproterenol(DB01064)	67591152		0.373	ENSG00000145675	11721	g.chr5:67591152delT	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding			370			370														0.22	1	1	0	1	0	0	0	0	0	--	--	TCGA GBM(4;<1E-08)	0	-			PIK3R1_uc003jvb.2_Frame_Shift_Del_p.M582fs|PIK3R1_uc003jvc.2_Frame_Shift_Del_p.M282fs|PIK3R1_uc003jvd.2_Frame_Shift_Del_p.M312fs|PIK3R1_uc003jve.2_Frame_Shift_Del_p.M261fs|PIK3R1_uc011crb.1_Frame_Shift_Del_p.M252fs	169	GBM-19-5947-TP	p.M582fs	T	CAATACTTGATGTAAGTATTT	NM_181523	NP_852664	67591152	P27986	P85A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	13	2305	+	-	-		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	Frame_Shift_Del	582						
PIK3R1	0	broad.mit.edu	GRCh37	5	67589199	67589213	+	inframe_deletion	In_Frame_Del	DEL	TAACCTTCAGTTCTG	TAACCTTCAGTTCTG	-			TCGA-19-5951-01	TCGA-19-5951-01	TAACCTTCAGTTCTG	TAACCTTCAGTTCTG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521381.1:c.1188_1202delAACCTTCAGTTCTGT	p.Thr397_Val401del	p.T397_V401del	ENST00000521381	NM_181523.2	396	tTAACCTTCAGTTCTGtg/ttg	0			1			-	LTFSSV/L	uc003jva.2	protein_coding	YES	CCDS3993.1			1187-1201/2175	Mis|F|O				gliobastoma|ovarian|colorectal			p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	c.(1186-1203)TTAACCTTCAGTTCTGTG>TTG			Gene3D:3.30.505.10,Pfam_domain:PF00017,Prints_domain:PR00678,PROSITE_profiles:PS50001,hmmpanther:PTHR10155,hmmpanther:PTHR10155:SF3,SMART_domains:SM00252,Superfamily_domains:SSF55550	phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)			ENSP00000428056		16-Oct										16-Oct	.		ENST00000521381	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	ENSG00000145675	g.chr5:67589199_67589213delTAACCTTCAGTTCTG	8979	1		MODERATE								--	--	1				TCGA GBM(4;<1E-08)																														PIK3R1_uc003jvb.2_In_Frame_Del_p.TFSSV397del|PIK3R1_uc003jvc.2_In_Frame_Del_p.TFSSV97del|PIK3R1_uc003jvd.2_In_Frame_Del_p.TFSSV127del|PIK3R1_uc003jve.2_In_Frame_Del_p.TFSSV76del|PIK3R1_uc011crb.1_In_Frame_Del_p.TFSSV67del		1			p.TFSSV397del	NM_181523	NP_852664				P85A_HUMAN	PIK3R1	HGNC	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	J7GXU7_HUMAN,J7GU64_HUMAN,E5RJY0_HUMAN,E5RHI0_HUMAN,E5RGI8_HUMAN,B3KWZ7_HUMAN		10	1747_1761	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	UPI000013D9FF	397_401			SH2 1.		deletion	PIK3R1,inframe_deletion,p.Thr397_Val401del,ENST00000521381,NM_181523.2;PIK3R1,inframe_deletion,p.Thr397_Val401del,ENST00000396611,;PIK3R1,inframe_deletion,p.Thr397_Val401del,ENST00000274335,;PIK3R1,inframe_deletion,p.Thr397_Val401del,ENST00000521657,;PIK3R1,inframe_deletion,p.Thr97_Val101del,ENST00000320694,NM_181524.1;PIK3R1,inframe_deletion,p.Thr34_Val38del,ENST00000523872,NM_001242466.1;PIK3R1,inframe_deletion,p.Thr127_Val131del,ENST00000336483,NM_181504.3;PIK3R1,inframe_deletion,p.Thr70_Val74del,ENST00000519025,;PIK3R1,inframe_deletion,p.Thr34_Val38del,ENST00000521409,;PIK3R1,downstream_gene_variant,,ENST00000522084,;PIK3R1,downstream_gene_variant,,ENST00000523807,;PIK3R1,3_prime_UTR_variant,,ENST00000517698,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000518813,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000520550,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000518292,;	uc003jva.2	c.1187_1201delTAACCTTCAGTTCTG	1803-1817/7011	5	5			c.1187_1201delTAACCTTCAGTTCTG	Mis|F|O				gliobastoma|ovarian|colorectal	5	DEL	c.(1186-1203)TTAACCTTCAGTTCTGTG>TTG	46	46		p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	Broad	phosphoinositide-3-kinase, regulatory subunit 1		Isoproterenol(DB01064)	67589213		0.326	ENSG00000145675	11721	g.chr5:67589199_67589213delTAACCTTCAGTTCTG	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding			370			370														0.16	1	1	0	1	0	0	0	0	0	--	--	TCGA GBM(4;<1E-08)	0	-			PIK3R1_uc003jvb.2_In_Frame_Del_p.TFSSV397del|PIK3R1_uc003jvc.2_In_Frame_Del_p.TFSSV97del|PIK3R1_uc003jvd.2_In_Frame_Del_p.TFSSV127del|PIK3R1_uc003jve.2_In_Frame_Del_p.TFSSV76del|PIK3R1_uc011crb.1_In_Frame_Del_p.TFSSV67del	171	GBM-19-5951-TP	p.TFSSV397del	TAACCTTCAGTTCTG	TCTGACCCATTAACCTTCAGTTCTGTGGTTGAATT	NM_181523	NP_852664	67589199	P27986	P85A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	10	1747_1761	+	-	-		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	In_Frame_Del	397_401			SH2 1.			
PIK3R1	0	broad.mit.edu	GRCh37	5	67591246	67591246	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G			TCGA-19-5955-01	TCGA-19-5955-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521381.1:c.1746-2A>G		p.X582_splice	ENST00000521381	NM_181523.2			0			1			G		uc003jva.2	protein_coding	YES	CCDS3993.1			1746/2175	Mis|F|O				gliobastoma|ovarian|colorectal			p.?(2)|p.Y580fs*1(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	c.e14-2				phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)			ENSP00000428056											COSM246591,COSM1154514,COSM1154513		.		ENST00000521381	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	ENSG00000145675	g.chr5:67591246A>G	8979			HIGH	13/15							--	--	1				TCGA GBM(4;<1E-08)																														PIK3R1_uc003jvb.2_Splice_Site_p.M582_splice|PIK3R1_uc003jvc.2_Splice_Site_p.M282_splice|PIK3R1_uc003jvd.2_Splice_Site_p.M312_splice|PIK3R1_uc003jve.2_Splice_Site_p.M261_splice|PIK3R1_uc011crb.1_Splice_Site_p.M252_splice	1,1,1	1			p.M582_splice	NM_181523	NP_852664			1,1,1	P85A_HUMAN	PIK3R1	HGNC	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	J7GXU7_HUMAN,J7GU64_HUMAN,E5RJY0_HUMAN,E5RHI0_HUMAN,E5RGI8_HUMAN,B3KWZ7_HUMAN		14	2306	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	UPI000013D9FF						SNV	PIK3R1,splice_acceptor_variant,,ENST00000521381,NM_181523.2;PIK3R1,splice_acceptor_variant,,ENST00000396611,;PIK3R1,splice_acceptor_variant,,ENST00000274335,;PIK3R1,splice_acceptor_variant,,ENST00000521657,;PIK3R1,splice_acceptor_variant,,ENST00000320694,NM_181524.1;PIK3R1,splice_acceptor_variant,,ENST00000523872,NM_001242466.1;PIK3R1,splice_acceptor_variant,,ENST00000336483,NM_181504.3;PIK3R1,downstream_gene_variant,,ENST00000522084,;PIK3R1,downstream_gene_variant,,ENST00000519025,;PIK3R1,downstream_gene_variant,,ENST00000523807,;PIK3R1,downstream_gene_variant,,ENST00000521409,;PIK3R1,splice_acceptor_variant,,ENST00000518813,;PIK3R1,splice_acceptor_variant,,ENST00000520550,;PIK3R1,splice_acceptor_variant,,ENST00000517698,;PIK3R1,downstream_gene_variant,,ENST00000518292,;	uc003jva.2	c.1746_splice	-/7011	5	3			c.1746_splice	Mis|F|O				gliobastoma|ovarian|colorectal	5	SNP	c.e14-2	52	52		p.?(2)|p.Y580fs*1(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	Broad	phosphoinositide-3-kinase, regulatory subunit 1		Isoproterenol(DB01064)	67591246		0.363	ENSG00000145675	11721	g.chr5:67591246A>G	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding		(ONCODG1-Tumor)|(NIHOVCAR3-Tumor)|(OV56-Tumor)|(PF382-Tumor)	370		(ONCODG1-Tumor)|(NIHOVCAR3-Tumor)|(OV56-Tumor)|(PF382-Tumor)	370	35.144691	KEEP	8	8	-1	40	34	8	8	-1	43.729786	40	34	0.179775	1	0	0	0	0	0	0	0	1	--	--	TCGA GBM(4;<1E-08)	0	G			PIK3R1_uc003jvb.2_Splice_Site_p.M582_splice|PIK3R1_uc003jvc.2_Splice_Site_p.M282_splice|PIK3R1_uc003jvd.2_Splice_Site_p.M312_splice|PIK3R1_uc003jve.2_Splice_Site_p.M261_splice|PIK3R1_uc011crb.1_Splice_Site_p.M252_splice	175	GBM-19-5955-TP	p.M582_splice	A	ACTGTTTTTCAGGTGGTTGAC	NM_181523	NP_852664	67591246	P27986	P85A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	14	2306	+	G	G		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	Splice_Site							
PIK3R1	0	broad.mit.edu	GRCh37	5	67591247	67591249	+	splice_acceptor_variant,coding_sequence_variant	Splice_Site	DEL	GGT	GGT	-			TCGA-26-5139-01	TCGA-26-5139-01	GGT	GGT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521381.1:c.1748_1750delGGT	p.Trp583del	p.W583del	ENST00000521381	NM_181523.2			0			1			-		uc003jva.2	protein_coding	YES	CCDS3993.1			?-1747/2175	Mis|F|O				gliobastoma|ovarian|colorectal			p.M582_D605>I(4)|p.?(3)|p.Y580fs*1(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	c.e14-1				phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)			ENSP00000428056		14/16									COSM2157179,COSM2157181,COSM2157180	14/16	.		ENST00000521381	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	ENSG00000145675	g.chr5:67591247_67591249delGGT	8979	3		HIGH	13/15							--	--	1				TCGA GBM(4;<1E-08)																														PIK3R1_uc003jvb.2_Splice_Site_p.M582_splice|PIK3R1_uc003jvc.2_Splice_Site_p.M282_splice|PIK3R1_uc003jvd.2_Splice_Site_p.M312_splice|PIK3R1_uc003jve.2_Splice_Site_p.M261_splice|PIK3R1_uc011crb.1_Splice_Site_p.M252_splice	1,1,1	1			p.M582_splice	NM_181523	NP_852664			1,1,1	P85A_HUMAN	PIK3R1	HGNC	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	J7GXU7_HUMAN,J7GU64_HUMAN,E5RJY0_HUMAN,E5RHI0_HUMAN,E5RGI8_HUMAN,B3KWZ7_HUMAN		14	2306	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	UPI000013D9FF						deletion	PIK3R1,splice_acceptor_variant,p.Trp583del,ENST00000521381,NM_181523.2;PIK3R1,splice_acceptor_variant,p.Trp583del,ENST00000396611,;PIK3R1,splice_acceptor_variant,p.Trp583del,ENST00000274335,;PIK3R1,splice_acceptor_variant,p.Trp583del,ENST00000521657,;PIK3R1,splice_acceptor_variant,p.Trp283del,ENST00000320694,NM_181524.1;PIK3R1,splice_acceptor_variant,p.Trp220del,ENST00000523872,NM_001242466.1;PIK3R1,splice_acceptor_variant,p.Trp313del,ENST00000336483,NM_181504.3;PIK3R1,downstream_gene_variant,,ENST00000522084,;PIK3R1,downstream_gene_variant,,ENST00000519025,;PIK3R1,downstream_gene_variant,,ENST00000523807,;PIK3R1,downstream_gene_variant,,ENST00000521409,;PIK3R1,splice_acceptor_variant,,ENST00000518813,;PIK3R1,splice_acceptor_variant,,ENST00000520550,;PIK3R1,splice_acceptor_variant,,ENST00000517698,;PIK3R1,downstream_gene_variant,,ENST00000518292,;	uc003jva.2	c.1746_splice	?-2363/7011	5	5			c.1746_splice	Mis|F|O				gliobastoma|ovarian|colorectal	5	DEL	c.e14-1	62	62		p.M582_D605>I(4)|p.?(3)|p.Y580fs*1(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	Broad	phosphoinositide-3-kinase, regulatory subunit 1		Isoproterenol(DB01064)	67591249		0.365	ENSG00000145675	11721	g.chr5:67591247_67591249delGGT	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding			370			370														0.35	1	1	0	1	0	0	0	0	1	--	--	TCGA GBM(4;<1E-08)	0	-			PIK3R1_uc003jvb.2_Splice_Site_p.M582_splice|PIK3R1_uc003jvc.2_Splice_Site_p.M282_splice|PIK3R1_uc003jvd.2_Splice_Site_p.M312_splice|PIK3R1_uc003jve.2_Splice_Site_p.M261_splice|PIK3R1_uc011crb.1_Splice_Site_p.M252_splice	186	GBM-26-5139-TP	p.M582_splice	GGT	CTGTTTTTCAGGTGGTTGACTCA	NM_181523	NP_852664	67591247	P27986	P85A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	14	2306	+	-	-		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	Splice_Site							
PIK3R1	0	broad.mit.edu	GRCh37	5	67591145	67591145	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-26-6174-01	TCGA-26-6174-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521381.1:c.1738T>G	p.Tyr580Asp	p.Y580D	ENST00000521381	NM_181523.2	580	Tac/Gac	0			1			G	Y/D	uc003jva.2	protein_coding	YES	CCDS3993.1			1738/2175	Mis|F|O				gliobastoma|ovarian|colorectal			p.R577_M582>K(1)|p.Y580fs*1(1)|p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	c.(1738-1740)TAC>GAC			Prints_domain:PR00678,hmmpanther:PTHR10155,hmmpanther:PTHR10155:SF3	phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)			ENSP00000428056		13/16									COSM3071968,COSM3071970,COSM3071969	13/16	.		ENST00000521381	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	ENSG00000145675	g.chr5:67591145T>G	8979			MODERATE		2.685	medium	getma.org/?cm=msa&ty=f&p=P85A_HUMAN&rb=409&re=608&var=Y580D	getma.org/pdb.php?prot=P85A_HUMAN&from=409&to=608&var=Y580D	getma.org/?cm=var&var=hg19,5,67591145,T,G&fts=all	Y580D	--	--	1				TCGA GBM(4;<1E-08)																														PIK3R1_uc003jvb.2_Missense_Mutation_p.Y580D|PIK3R1_uc003jvc.2_Missense_Mutation_p.Y280D|PIK3R1_uc003jvd.2_Missense_Mutation_p.Y310D|PIK3R1_uc003jve.2_Missense_Mutation_p.Y259D|PIK3R1_uc011crb.1_Missense_Mutation_p.Y250D	1,1,1	1		probably_damaging(0.998)	p.Y580D	NM_181523	NP_852664		deleterious(0)	1,1,1	P85A_HUMAN	PIK3R1	HGNC	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	J7GXU7_HUMAN,J7GU64_HUMAN,E5RJY0_HUMAN,E5RHI0_HUMAN,E5RGI8_HUMAN,B3KWZ7_HUMAN		13	2298	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	UPI000013D9FF	580					SNV	PIK3R1,missense_variant,p.Tyr580Asp,ENST00000521381,NM_181523.2;PIK3R1,missense_variant,p.Tyr580Asp,ENST00000396611,;PIK3R1,missense_variant,p.Tyr580Asp,ENST00000274335,;PIK3R1,missense_variant,p.Tyr580Asp,ENST00000521657,;PIK3R1,missense_variant,p.Tyr280Asp,ENST00000320694,NM_181524.1;PIK3R1,missense_variant,p.Tyr217Asp,ENST00000523872,NM_001242466.1;PIK3R1,missense_variant,p.Tyr310Asp,ENST00000336483,NM_181504.3;PIK3R1,downstream_gene_variant,,ENST00000522084,;PIK3R1,downstream_gene_variant,,ENST00000519025,;PIK3R1,downstream_gene_variant,,ENST00000523807,;PIK3R1,downstream_gene_variant,,ENST00000521409,;PIK3R1,3_prime_UTR_variant,,ENST00000517698,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000518813,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000520550,;PIK3R1,downstream_gene_variant,,ENST00000518292,;	uc003jva.2	c.1738T>G	2354/7011	3	3			c.1738T>G	Mis|F|O				gliobastoma|ovarian|colorectal	5	SNP	c.(1738-1740)TAC>GAC	60	60		p.R577_M582>K(1)|p.Y580fs*1(1)|p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	Broad	phosphoinositide-3-kinase, regulatory subunit 1		Isoproterenol(DB01064)	67591145		0.368	ENSG00000145675	11721	g.chr5:67591145T>G	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding		p.Y580D(SUDHL6-Tumor)	370		p.Y580D(SUDHL6-Tumor)	370	45.447853	KEEP	7	10	-1	26	33	7	10	-1	49.826961	26	33	0.235294	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(4;<1E-08)	0	G			PIK3R1_uc003jvb.2_Missense_Mutation_p.Y580D|PIK3R1_uc003jvc.2_Missense_Mutation_p.Y280D|PIK3R1_uc003jvd.2_Missense_Mutation_p.Y310D|PIK3R1_uc003jve.2_Missense_Mutation_p.Y259D|PIK3R1_uc011crb.1_Missense_Mutation_p.Y250D	188	GBM-26-6174-TP	p.Y580D	T	GAGAGACCAATACTTGATGTA	NM_181523	NP_852664	67591145	P27986	P85A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	13	2298	+	G	G		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	Missense_Mutation	580						
PIK3R1	0	broad.mit.edu	GRCh37	5	67591085	67591085	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-28-2513-01	TCGA-28-2513-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521381.1:c.1678G>C	p.Asp560His	p.D560H	ENST00000521381	NM_181523.2	560	Gac/Cac	0			1			C	D/H	uc003jva.2	protein_coding	YES	CCDS3993.1			1678/2175	Mis|F|O				gliobastoma|ovarian|colorectal			p.D560_S565del(1)|p.R557_K561>Q(1)|p.D560Y(1)|p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	c.(1678-1680)GAC>CAC			Coiled-coils_(Ncoils):Coil,Prints_domain:PR00678,hmmpanther:PTHR10155,hmmpanther:PTHR10155:SF3	phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)			ENSP00000428056		13/16									COSM125378,COSM1579103,COSM1579102	13/16	.		ENST00000521381	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	ENSG00000145675	g.chr5:67591085G>C	8979			MODERATE		2.71	medium	getma.org/?cm=msa&ty=f&p=P85A_HUMAN&rb=409&re=608&var=D560H	getma.org/pdb.php?prot=P85A_HUMAN&from=409&to=608&var=D560H	getma.org/?cm=var&var=hg19,5,67591085,G,C&fts=all	D560H	--	--	1				TCGA GBM(4;<1E-08)																														PIK3R1_uc003jvb.2_Missense_Mutation_p.D560H|PIK3R1_uc003jvc.2_Missense_Mutation_p.D260H|PIK3R1_uc003jvd.2_Missense_Mutation_p.D290H|PIK3R1_uc003jve.2_Missense_Mutation_p.D239H|PIK3R1_uc011crb.1_Missense_Mutation_p.D230H	1,1,1	1		probably_damaging(0.995)	p.D560H	NM_181523	NP_852664		deleterious(0)	1,1,1	P85A_HUMAN	PIK3R1	HGNC	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	J7GXU7_HUMAN,J7GU64_HUMAN,E5RJY0_HUMAN,E5RHI0_HUMAN,E5RGI8_HUMAN,B3KWZ7_HUMAN		13	2238	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	UPI000013D9FF	560					SNV	PIK3R1,missense_variant,p.Asp560His,ENST00000521381,NM_181523.2;PIK3R1,missense_variant,p.Asp560His,ENST00000396611,;PIK3R1,missense_variant,p.Asp560His,ENST00000274335,;PIK3R1,missense_variant,p.Asp560His,ENST00000521657,;PIK3R1,missense_variant,p.Asp260His,ENST00000320694,NM_181524.1;PIK3R1,missense_variant,p.Asp197His,ENST00000523872,NM_001242466.1;PIK3R1,missense_variant,p.Asp290His,ENST00000336483,NM_181504.3;PIK3R1,downstream_gene_variant,,ENST00000522084,;PIK3R1,downstream_gene_variant,,ENST00000519025,;PIK3R1,downstream_gene_variant,,ENST00000523807,;PIK3R1,downstream_gene_variant,,ENST00000521409,;PIK3R1,3_prime_UTR_variant,,ENST00000517698,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000518813,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000520550,;PIK3R1,downstream_gene_variant,,ENST00000518292,;	uc003jva.2	c.1678G>C	2294/7011	4	4			c.1678G>C	Mis|F|O				gliobastoma|ovarian|colorectal	5	SNP	c.(1678-1680)GAC>CAC	48	48		p.D560_S565del(1)|p.R557_K561>Q(1)|p.D560Y(1)|p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	Broad	phosphoinositide-3-kinase, regulatory subunit 1		Isoproterenol(DB01064)	67591085		0.358	ENSG00000145675	11721	g.chr5:67591085G>C	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding		p.D560Y(JHUEM7-Tumor)|p.557_561REIDK>Q(AN3CA-Tumor)	370		p.D560Y(JHUEM7-Tumor)|p.557_561REIDK>Q(AN3CA-Tumor)	370	18.546653	KEEP	6	9	-1	58	67	6	9	-1	39.14654	58	67	0.105263	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(4;<1E-08)	0	C			PIK3R1_uc003jvb.2_Missense_Mutation_p.D560H|PIK3R1_uc003jvc.2_Missense_Mutation_p.D260H|PIK3R1_uc003jvd.2_Missense_Mutation_p.D290H|PIK3R1_uc003jve.2_Missense_Mutation_p.D239H|PIK3R1_uc011crb.1_Missense_Mutation_p.D230H	213	GBM-28-2513-TP	p.D560H	G	TCGAGAAATTGACAAACGTAT	NM_181523	NP_852664	67591085	P27986	P85A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	13	2238	+	C	C		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	Missense_Mutation	560						
PIK3R1	0	broad.mit.edu	GRCh37	5	67591096	67591098	+	inframe_deletion	In_Frame_Del	DEL	GAA	GAA	-			TCGA-32-1991-01	TCGA-32-1991-01	GAA	GAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521381.1:c.1689_1691delGAA	p.Met563_Asn564delinsIle	p.M563_N564delinsI	ENST00000521381	NM_181523.2	563	atGAAc/atc	0			1			-	MN/I	uc003jva.2	protein_coding	YES	CCDS3993.1			1689-1691/2175	Mis|F|O				gliobastoma|ovarian|colorectal			p.N564D(3)|p.D560_S565del(1)|p.R562_M563ins13(1)|p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	c.(1687-1692)ATGAAC>ATC			Coiled-coils_(Ncoils):Coil,Prints_domain:PR00678,hmmpanther:PTHR10155,hmmpanther:PTHR10155:SF3	phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)			ENSP00000428056		13/16										13/16	.		ENST00000521381	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	ENSG00000145675	g.chr5:67591096_67591098delGAA	8979			MODERATE								--	--	1				TCGA GBM(4;<1E-08)																														PIK3R1_uc003jvb.2_In_Frame_Del_p.563_564MN>I|PIK3R1_uc003jvc.2_In_Frame_Del_p.263_264MN>I|PIK3R1_uc003jvd.2_In_Frame_Del_p.293_294MN>I|PIK3R1_uc003jve.2_In_Frame_Del_p.242_243MN>I|PIK3R1_uc011crb.1_In_Frame_Del_p.233_234MN>I		1			p.563_564MN>I	NM_181523	NP_852664				P85A_HUMAN	PIK3R1	HGNC	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	J7GXU7_HUMAN,J7GU64_HUMAN,E5RJY0_HUMAN,E5RHI0_HUMAN,E5RGI8_HUMAN,B3KWZ7_HUMAN		13	2249_2251	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	UPI000013D9FF	563_564					deletion	PIK3R1,inframe_deletion,p.Met563_Asn564delinsIle,ENST00000521381,NM_181523.2;PIK3R1,inframe_deletion,p.Met563_Asn564delinsIle,ENST00000396611,;PIK3R1,inframe_deletion,p.Met563_Asn564delinsIle,ENST00000274335,;PIK3R1,inframe_deletion,p.Met563_Asn564delinsIle,ENST00000521657,;PIK3R1,inframe_deletion,p.Met263_Asn264delinsIle,ENST00000320694,NM_181524.1;PIK3R1,inframe_deletion,p.Met200_Asn201delinsIle,ENST00000523872,NM_001242466.1;PIK3R1,inframe_deletion,p.Met293_Asn294delinsIle,ENST00000336483,NM_181504.3;PIK3R1,downstream_gene_variant,,ENST00000522084,;PIK3R1,downstream_gene_variant,,ENST00000519025,;PIK3R1,downstream_gene_variant,,ENST00000523807,;PIK3R1,downstream_gene_variant,,ENST00000521409,;PIK3R1,3_prime_UTR_variant,,ENST00000517698,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000518813,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000520550,;PIK3R1,downstream_gene_variant,,ENST00000518292,;	uc003jva.2	c.1689_1691delGAA	2305-2307/7011	5	5			c.1689_1691delGAA	Mis|F|O				gliobastoma|ovarian|colorectal	5	DEL	c.(1687-1692)ATGAAC>ATC	3	3		p.N564D(3)|p.D560_S565del(1)|p.R562_M563ins13(1)|p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	Broad	phosphoinositide-3-kinase, regulatory subunit 1		Isoproterenol(DB01064)	67591098		0.374	ENSG00000145675	11721	g.chr5:67591096_67591098delGAA	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding		p.N564D(MALME3M-Tumor)	370		p.N564D(MALME3M-Tumor)	370														0.36	1	1	0	1	0	0	0	0	0	--	--	TCGA GBM(4;<1E-08)	0	-			PIK3R1_uc003jvb.2_In_Frame_Del_p.563_564MN>I|PIK3R1_uc003jvc.2_In_Frame_Del_p.263_264MN>I|PIK3R1_uc003jvd.2_In_Frame_Del_p.293_294MN>I|PIK3R1_uc003jve.2_In_Frame_Del_p.242_243MN>I|PIK3R1_uc011crb.1_In_Frame_Del_p.233_234MN>I	234	GBM-32-1991-TP	p.563_564MN>I	GAA	ACAAACGTATGAACAGCATTAAA	NM_181523	NP_852664	67591096	P27986	P85A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	13	2249_2251	+	-	-		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	In_Frame_Del	563_564						
PIK3R1	0	broad.mit.edu	GRCh37	5	67591121	67591121	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-32-2634-01	TCGA-32-2634-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521381.1:c.1714C>T	p.Gln572Ter	p.Q572*	ENST00000521381	NM_181523.2	572	Cag/Tag	0			1			T	Q/*	uc003jva.2	protein_coding	YES	CCDS3993.1			1714/2175	Mis|F|O				gliobastoma|ovarian|colorectal			p.L570_D578del(1)|p.L570_Q572del(1)|p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	c.(1714-1716)CAG>TAG			Prints_domain:PR00678,hmmpanther:PTHR10155,hmmpanther:PTHR10155:SF3	phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)			ENSP00000428056		13/16									COSM3410374,COSM3410376,COSM3410375	13/16	.		ENST00000521381	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	ENSG00000145675	g.chr5:67591121C>T	8979			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,5,67591121,C,T&fts=all	Q572*	--	--	1				TCGA GBM(4;<1E-08)																														PIK3R1_uc003jvb.2_Nonsense_Mutation_p.Q572*|PIK3R1_uc003jvc.2_Nonsense_Mutation_p.Q272*|PIK3R1_uc003jvd.2_Nonsense_Mutation_p.Q302*|PIK3R1_uc003jve.2_Nonsense_Mutation_p.Q251*|PIK3R1_uc011crb.1_Nonsense_Mutation_p.Q242*	1,1,1	1			p.Q572*	NM_181523	NP_852664			1,1,1	P85A_HUMAN	PIK3R1	HGNC	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	J7GXU7_HUMAN,J7GU64_HUMAN,E5RJY0_HUMAN,E5RHI0_HUMAN,E5RGI8_HUMAN,B3KWZ7_HUMAN		13	2274	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	UPI000013D9FF	572					SNV	PIK3R1,stop_gained,p.Gln572Ter,ENST00000521381,NM_181523.2;PIK3R1,stop_gained,p.Gln572Ter,ENST00000396611,;PIK3R1,stop_gained,p.Gln572Ter,ENST00000274335,;PIK3R1,stop_gained,p.Gln572Ter,ENST00000521657,;PIK3R1,stop_gained,p.Gln272Ter,ENST00000320694,NM_181524.1;PIK3R1,stop_gained,p.Gln209Ter,ENST00000523872,NM_001242466.1;PIK3R1,stop_gained,p.Gln302Ter,ENST00000336483,NM_181504.3;PIK3R1,downstream_gene_variant,,ENST00000522084,;PIK3R1,downstream_gene_variant,,ENST00000519025,;PIK3R1,downstream_gene_variant,,ENST00000523807,;PIK3R1,downstream_gene_variant,,ENST00000521409,;PIK3R1,3_prime_UTR_variant,,ENST00000517698,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000518813,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000520550,;PIK3R1,downstream_gene_variant,,ENST00000518292,;	uc003jva.2	c.1714C>T	2330/7011	5	1			c.1714C>T	Mis|F|O				gliobastoma|ovarian|colorectal	5	SNP	c.(1714-1716)CAG>TAG	8	8		p.L570_D578del(1)|p.L570_Q572del(1)|p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	Broad	phosphoinositide-3-kinase, regulatory subunit 1		Isoproterenol(DB01064)	67591121		0.373	ENSG00000145675	11721	g.chr5:67591121C>T	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding			370			370	157.866567	KEEP	28	29	-1	46	45	28	29	-1	159.16809	46	45	0.393939	1	0	0	0	0	0	1	0	0	--	--	TCGA GBM(4;<1E-08)	0	T			PIK3R1_uc003jvb.2_Nonsense_Mutation_p.Q572*|PIK3R1_uc003jvc.2_Nonsense_Mutation_p.Q272*|PIK3R1_uc003jvd.2_Nonsense_Mutation_p.Q302*|PIK3R1_uc003jve.2_Nonsense_Mutation_p.Q251*|PIK3R1_uc011crb.1_Nonsense_Mutation_p.Q242*	241	GBM-32-2634-TP	p.Q572*	C	AGACCTTATCCAGCTGAGAAA	NM_181523	NP_852664	67591121	P27986	P85A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	13	2274	+	T	T		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	Nonsense_Mutation	572						
PIK3R1	0	broad.mit.edu	GRCh37	5	67589298	67589298	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-41-3915-01	TCGA-41-3915-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521381.1:c.1286C>A	p.Ser429Tyr	p.S429Y	ENST00000521381	NM_181523.2	429	tCc/tAc	0			1			A	S/Y	uc003jva.2	protein_coding	YES	CCDS3993.1			1286/2175	Mis|F|O				gliobastoma|ovarian|colorectal			p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	c.(1285-1287)TCC>TAC			Gene3D:3.30.505.10,Prints_domain:PR00678,hmmpanther:PTHR10155,hmmpanther:PTHR10155:SF3,Superfamily_domains:SSF55550	phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)			ENSP00000428056		16-Oct									COSM3410371,COSM3410373,COSM3410372	16-Oct	.		ENST00000521381	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	ENSG00000145675	g.chr5:67589298C>A	8979			MODERATE		3.02	medium	getma.org/?cm=msa&ty=f&p=P85A_HUMAN&rb=409&re=608&var=S429Y	getma.org/pdb.php?prot=P85A_HUMAN&from=409&to=608&var=S429Y	getma.org/?cm=var&var=hg19,5,67589298,C,A&fts=all	S429Y	--	--	1				TCGA GBM(4;<1E-08)																														PIK3R1_uc003jvb.2_Missense_Mutation_p.S429Y|PIK3R1_uc003jvc.2_Missense_Mutation_p.S129Y|PIK3R1_uc003jvd.2_Missense_Mutation_p.S159Y|PIK3R1_uc003jve.2_Missense_Mutation_p.S108Y|PIK3R1_uc011crb.1_Missense_Mutation_p.S99Y	1,1,1	1		probably_damaging(0.999)	p.S429Y	NM_181523	NP_852664		deleterious(0.01)	1,1,1	P85A_HUMAN	PIK3R1	HGNC	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	J7GXU7_HUMAN,J7GU64_HUMAN,E5RJY0_HUMAN,E5RHI0_HUMAN,E5RGI8_HUMAN,B3KWZ7_HUMAN		10	1846	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	UPI000013D9FF	429					SNV	PIK3R1,missense_variant,p.Ser429Tyr,ENST00000521381,NM_181523.2;PIK3R1,missense_variant,p.Ser429Tyr,ENST00000396611,;PIK3R1,missense_variant,p.Ser429Tyr,ENST00000274335,;PIK3R1,missense_variant,p.Ser429Tyr,ENST00000521657,;PIK3R1,missense_variant,p.Ser129Tyr,ENST00000320694,NM_181524.1;PIK3R1,missense_variant,p.Ser66Tyr,ENST00000523872,NM_001242466.1;PIK3R1,missense_variant,p.Ser159Tyr,ENST00000336483,NM_181504.3;PIK3R1,missense_variant,p.Ser102Tyr,ENST00000519025,;PIK3R1,missense_variant,p.Ser66Tyr,ENST00000521409,;PIK3R1,downstream_gene_variant,,ENST00000522084,;PIK3R1,downstream_gene_variant,,ENST00000523807,;PIK3R1,3_prime_UTR_variant,,ENST00000517698,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000518813,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000520550,;PIK3R1,downstream_gene_variant,,ENST00000518292,;	uc003jva.2	c.1286C>A	1902/7011	1	1			c.1286C>A	Mis|F|O				gliobastoma|ovarian|colorectal	5	SNP	c.(1285-1287)TCC>TAC	62	62		p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	Broad	phosphoinositide-3-kinase, regulatory subunit 1		Isoproterenol(DB01064)	67589298		0.318	ENSG00000145675	11721	g.chr5:67589298C>A	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding			370			370	64.909863	KEEP	7	19	0.730769231	12	27	7	19	0.730769231	65.374897	12	27	0.403509	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(4;<1E-08)	0	A			PIK3R1_uc003jvb.2_Missense_Mutation_p.S429Y|PIK3R1_uc003jvc.2_Missense_Mutation_p.S129Y|PIK3R1_uc003jvd.2_Missense_Mutation_p.S159Y|PIK3R1_uc003jve.2_Missense_Mutation_p.S108Y|PIK3R1_uc011crb.1_Missense_Mutation_p.S99Y	256	GBM-41-3915-TP	p.S429Y	C	TATCCAGTATCCAAATACCAA	NM_181523	NP_852664	67589298	P27986	P85A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	10	1846	+	A	A		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	Missense_Mutation	429						
PIK3R1	0	broad.mit.edu	GRCh37	5	67589601	67589602	+	inframe_insertion	In_Frame_Ins	INS	-	-	GTT			TCGA-74-6573-01	TCGA-74-6573-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521381.1:c.1365_1367dupGTT	p.Gln455_Phe456insLeu	p.Q455_F456insL	ENST00000521381	NM_181523.2	455	cag/caGTTg	0			1			GTT	Q/QL	uc003jva.2	protein_coding	YES	CCDS3993.1			1364-1365/2175	Mis|F|O				gliobastoma|ovarian|colorectal			p.D434_Q475del(2)|p.T454_Q455>Q(1)|p.Y452_Q455>SGGSRIK(1)|p.?(1)|p.F456_R461del(1)|p.T454_D464del(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	c.(1363-1365)CAG>CAGTTG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10155,hmmpanther:PTHR10155:SF3	phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)			ENSP00000428056		16-Nov									COSM449993,COSM1486912,COSM1486911	16-Nov	.		ENST00000521381	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	ENSG00000145675	g.chr5:67589601_67589602insGTT	8979	3		MODERATE								--	--	1				TCGA GBM(4;<1E-08)																														PIK3R1_uc003jvb.2_In_Frame_Ins_p.455_456insL|PIK3R1_uc003jvc.2_In_Frame_Ins_p.155_156insL|PIK3R1_uc003jvd.2_In_Frame_Ins_p.185_186insL|PIK3R1_uc003jve.2_In_Frame_Ins_p.134_135insL|PIK3R1_uc011crb.1_In_Frame_Ins_p.125_126insL	1,1,1	1			p.455_456insL	NM_181523	NP_852664			1,1,1	P85A_HUMAN	PIK3R1	HGNC	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	J7GXU7_HUMAN,J7GU64_HUMAN,E5RJY0_HUMAN,E5RHI0_HUMAN,E5RGI8_HUMAN,B3KWZ7_HUMAN		11	1924_1925	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	UPI000013D9FF	455_456					insertion	PIK3R1,inframe_insertion,p.Gln455_Phe456insLeu,ENST00000521381,NM_181523.2;PIK3R1,inframe_insertion,p.Gln455_Phe456insLeu,ENST00000396611,;PIK3R1,inframe_insertion,p.Gln455_Phe456insLeu,ENST00000274335,;PIK3R1,inframe_insertion,p.Gln455_Phe456insLeu,ENST00000521657,;PIK3R1,inframe_insertion,p.Gln155_Phe156insLeu,ENST00000320694,NM_181524.1;PIK3R1,inframe_insertion,p.Gln92_Phe93insLeu,ENST00000523872,NM_001242466.1;PIK3R1,inframe_insertion,p.Gln185_Phe186insLeu,ENST00000336483,NM_181504.3;PIK3R1,inframe_insertion,p.Gln128_Phe129insLeu,ENST00000519025,;PIK3R1,inframe_insertion,p.Gln92_Phe93insLeu,ENST00000521409,;PIK3R1,downstream_gene_variant,,ENST00000522084,;PIK3R1,downstream_gene_variant,,ENST00000523807,;PIK3R1,3_prime_UTR_variant,,ENST00000517698,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000518813,;PIK3R1,non_coding_transcript_exon_variant,,ENST00000520550,;PIK3R1,downstream_gene_variant,,ENST00000518292,;	uc003jva.2	c.1364_1365insGTT	1980-1981/7011	5	5			c.1364_1365insGTT	Mis|F|O				gliobastoma|ovarian|colorectal	5	INS	c.(1363-1365)CAG>CAGTTG	47	47		p.D434_Q475del(2)|p.T454_Q455>Q(1)|p.Y452_Q455>SGGSRIK(1)|p.?(1)|p.F456_R461del(1)|p.T454_D464del(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	Broad	phosphoinositide-3-kinase, regulatory subunit 1		Isoproterenol(DB01064)	67589602		0.287	ENSG00000145675	11721	g.chr5:67589601_67589602insGTT	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding			370			370														0.39	1	0	0	1	1	0	0	0	0	--	--	TCGA GBM(4;<1E-08)	0	GTT			PIK3R1_uc003jvb.2_In_Frame_Ins_p.455_456insL|PIK3R1_uc003jvc.2_In_Frame_Ins_p.155_156insL|PIK3R1_uc003jvd.2_In_Frame_Ins_p.185_186insL|PIK3R1_uc003jve.2_In_Frame_Ins_p.134_135insL|PIK3R1_uc011crb.1_In_Frame_Ins_p.125_126insL	260	GBM-74-6573-TP	p.455_456insL	-	TATAACACTCAGTTTCAAGAAA	NM_181523	NP_852664	67589601	P27986	P85A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	11	1924_1925	+	GTT	GTT		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	In_Frame_Ins	455_456						
PIK3R1	0	broad.mit.edu	GRCh37	5	67575431	67575432	+	frameshift_variant,splice_region_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-76-4927-01	TCGA-76-4927-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521381.1:c.505dupA	p.Thr169AsnfsTer16	p.T169Nfs*16	ENST00000521381	NM_181523.2	168	-/A	0			1			A	-/X	uc003jva.2	protein_coding	YES	CCDS3993.1			504-505/2175	Mis|F|O				gliobastoma|ovarian|colorectal			p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	c.(502-507)GATACAfs			Gene3D:1.10.555.10,Pfam_domain:PF00620,PROSITE_profiles:PS50238,hmmpanther:PTHR10155,hmmpanther:PTHR10155:SF3,SMART_domains:SM00324,Superfamily_domains:SSF48350	phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)			ENSP00000428056		16-May										16-May	.		ENST00000521381	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	ENSG00000145675	g.chr5:67575431_67575432insA	8979	1		HIGH								--	--	1				TCGA GBM(4;<1E-08)																														PIK3R1_uc003jvb.2_Frame_Shift_Ins_p.D168fs		1			p.D168fs	NM_181523	NP_852664				P85A_HUMAN	PIK3R1	HGNC	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	J7GXU7_HUMAN,J7GU64_HUMAN,E5RJY0_HUMAN,E5RHI0_HUMAN,E5RGI8_HUMAN,B3KWZ7_HUMAN		5	1064_1065	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	UPI000013D9FF	168_169			Rho-GAP.		insertion	PIK3R1,frameshift_variant,p.Thr169AsnfsTer16,ENST00000521381,NM_181523.2;PIK3R1,frameshift_variant,p.Thr169AsnfsTer16,ENST00000396611,;PIK3R1,frameshift_variant,p.Thr169AsnfsTer16,ENST00000274335,;PIK3R1,frameshift_variant,p.Thr169AsnfsTer16,ENST00000521657,;PIK3R1,frameshift_variant,p.Thr71AsnfsTer16,ENST00000520675,;PIK3R1,upstream_gene_variant,,ENST00000522084,;PIK3R1,upstream_gene_variant,,ENST00000523807,;	uc003jva.2	c.504_505insA	1120-1121/7011	5	5			c.504_505insA	Mis|F|O				gliobastoma|ovarian|colorectal	5	INS	c.(502-507)GATACAfs	51	51		p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	Broad	phosphoinositide-3-kinase, regulatory subunit 1		Isoproterenol(DB01064)	67575432		0.381	ENSG00000145675	11721	g.chr5:67575431_67575432insA	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding			370			370														0.06	1	0	0	1	1	0	0	0	0	--	--	TCGA GBM(4;<1E-08)	0	A			PIK3R1_uc003jvb.2_Frame_Shift_Ins_p.D168fs	267	GBM-76-4927-TP	p.D168fs	-	GTTTCCTAGATACACCCTCCGT	NM_181523	NP_852664	67575431	P27986	P85A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	5	1064_1065	+	A	A		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	Frame_Shift_Ins	168_169			Rho-GAP.			
PIK3R1	0	broad.mit.edu	GRCh37	5	67575468	67575468	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs143572224		TCGA-76-4929-01	TCGA-76-4929-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521381.1:c.541delG	p.Val181PhefsTer26	p.V181Ffs*26	ENST00000521381	NM_181523.2	181	Gtt/tt	0			1			-	V/X	uc003jva.2	protein_coding	YES	CCDS3993.1			541/2175	Mis|F|O				gliobastoma|ovarian|colorectal			p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	c.(541-543)GTTfs			Gene3D:1.10.555.10,Pfam_domain:PF00620,PROSITE_profiles:PS50238,hmmpanther:PTHR10155,hmmpanther:PTHR10155:SF3,SMART_domains:SM00324,Superfamily_domains:SSF48350	phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)			ENSP00000428056		16-May										16-May	.		ENST00000521381	Transcript	1		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	ENSG00000145675	g.chr5:67575468delG	8979			HIGH								--	--	1				TCGA GBM(4;<1E-08)																														PIK3R1_uc003jvb.2_Frame_Shift_Del_p.V181fs		1			p.V181fs	NM_181523	NP_852664				P85A_HUMAN	PIK3R1	HGNC	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	J7GXU7_HUMAN,J7GU64_HUMAN,E5RJY0_HUMAN,E5RHI0_HUMAN,E5RGI8_HUMAN,B3KWZ7_HUMAN		5	1101	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	UPI000013D9FF	181			Rho-GAP.		deletion	PIK3R1,frameshift_variant,p.Val181PhefsTer26,ENST00000521381,NM_181523.2;PIK3R1,frameshift_variant,p.Val181PhefsTer26,ENST00000396611,;PIK3R1,frameshift_variant,p.Val181PhefsTer26,ENST00000274335,;PIK3R1,frameshift_variant,p.Val181PhefsTer26,ENST00000521657,;PIK3R1,frameshift_variant,p.Val83PhefsTer26,ENST00000520675,;PIK3R1,upstream_gene_variant,,ENST00000522084,;PIK3R1,upstream_gene_variant,,ENST00000523807,;	uc003jva.2	c.541delG	1157/7011	5	5			c.541delG	Mis|F|O				gliobastoma|ovarian|colorectal	5	DEL	c.(541-543)GTTfs	13	13		p.?(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101	Broad	phosphoinositide-3-kinase, regulatory subunit 1		Isoproterenol(DB01064)	67575468		0.393	ENSG00000145675	11721	g.chr5:67575468delG	epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding		p.H180fs(HEC265-Tumor)	370		p.H180fs(HEC265-Tumor)	370														0.63	1	1	0	1	0	0	0	0	0	--	--	TCGA GBM(4;<1E-08)	0	-			PIK3R1_uc003jvb.2_Frame_Shift_Del_p.V181fs	269	GBM-76-4929-TP	p.V181fs	G	CGATGTGCACGTTTTGGCTGA	NM_181523	NP_852664	67575468	P27986	P85A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	5	1101	+	-	-		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	Frame_Shift_Del	181			Rho-GAP.			
PIK3R1	5295		GRCh37	5	67589149	67589149	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000274335.5:c.1137A>T	p.Lys379Asn	p.K379N	ENST00000274335		379	aaA/aaT	0																																																																																																																																																																																																																																												
PIK3R1	5295		GRCh37	5	67591259	67591261	+	inframe_deletion	In_Frame_Del	DEL	AAA	AAA	-			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000274335.5:c.1759_1761del	p.Lys587del	p.K587del	ENST00000274335		586	cAAAaa/caa	0																																																																																																																																																																																																																																												
PIK3R1	5295		GRCh37	5	67593227	67593245	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	CTCTCCTCTCTAGGGTGGA	CTCTCCTCTCTAGGGTGGA	-			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000274335.5:c.1986-12_1992del		p.X662_splice	ENST00000274335		662		0																																																																																																																																																																																																																																												
PIK3R1	5295		GRCh37	5	67589634	67589635	+	inframe_insertion	In_Frame_Ins	INS	-	-	ATATGAAGA			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000274335.5:c.1402_1410dup	p.Glu468_Tyr470dup	p.E468_Y470dup	ENST00000274335		468	tta/ttATATGAAGAa	0																																																																																																																																																																																																																																												
PIK3R1	5295		GRCh37	5	67589138	67589138	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000274335.5:c.1126G>A	p.Gly376Arg	p.G376R	ENST00000274335		376	Gga/Aga	0																																																																																																																																																																																																																																												
PIK3R1	5295		GRCh37	5	67522740	67522741	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000274335.5:c.244dup	p.Ile82AsnfsTer24	p.I82Nfs*24	ENST00000274335		79	-/A	0																																																																																																																																																																																																																																												
PIK3R1	5295		GRCh37	5	67589590	67589591	+	inframe_insertion	In_Frame_Ins	INS	-	-	TAT			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000274335.5:c.1354_1356dup	p.Tyr452dup	p.Y452dup	ENST00000274335		452	-/TAT	0																																																																																																																																																																																																																																												
PIK3R2	0	broad.mit.edu	GRCh37	19	18280016	18280016	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01	TCGA-16-0846-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222254.8:c.2099C>T	p.Ser700Leu	p.S700L	ENST00000222254	NM_005027.3	700	tCg/tTg	0			1			T	S/L	uc002nia.1	protein_coding	YES	CCDS12371.1			2099/2187									lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6	c.(2098-2100)TCG>TTG			Gene3D:3.30.505.10,PROSITE_profiles:PS50001,hmmpanther:PTHR10155,hmmpanther:PTHR10155:SF1,SMART_domains:SM00252,Superfamily_domains:SSF55550	phosphoinositide-3-kinase, regulatory subunit 2				ENSP00000222254		16/16	8.28E-06					1.80E-05			rs778763290,COSM3403954	16/16	.		ENST00000222254	Transcript	1		fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	ENSG00000105647	g.chr19:18280016C>T	8980			MODERATE		3.2	medium	getma.org/?cm=msa&ty=f&p=P85B_HUMAN&rb=622&re=716&var=S700L	getma.org/pdb.php?prot=P85B_HUMAN&from=622&to=716&var=S700L	getma.org/?cm=var&var=hg19,19,18280016,C,T&fts=all	S700L	--	--	1																																		PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	0,1	1		probably_damaging(0.995)	p.S700L	NM_005027	NP_005018		deleterious(0)	0,1	P85B_HUMAN	PIK3R2	HGNC	O00459	P85B_HUMAN			Q96CK7_HUMAN,M0QYU3_HUMAN		16	2611	+			UPI000006EF95	700			SH2 2.		SNV	PIK3R2,missense_variant,p.Ser700Leu,ENST00000222254,NM_005027.3;IFI30,upstream_gene_variant,,ENST00000407280,NM_006332.4;IFI30,upstream_gene_variant,,ENST00000597802,;PIK3R2,missense_variant,p.Ser700Leu,ENST00000593731,;PIK3R2,3_prime_UTR_variant,,ENST00000426902,;PIK3R2,3_prime_UTR_variant,,ENST00000464016,;IFI30,upstream_gene_variant,,ENST00000600463,;PIK3R2,downstream_gene_variant,,ENST00000459743,;	uc002nia.1	c.2099C>T	2699/4033	2	2			c.2099C>T						19	SNP	c.(2098-2100)TCG>TTG	28	28			lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6	Broad	phosphoinositide-3-kinase, regulatory subunit 2			18280016		0.542	ENSG00000105647	11722	g.chr19:18280016C>T	fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			186			186	60.865109	KEEP	9	12	-1	18	17	9	12	-1	61.537561	18	17	0.381818	1	0	0	0	0	1	0	0	0	--	--		0	T			PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	155	GBM-16-0846-TP	p.S700L	C	CAGCACGCCTCGCTGGTGCAG	NM_005027	NP_005018	18280016	O00459	P85B_HUMAN	0			16	2611	+	T	T			Missense_Mutation	700			SH2 2.			
PIK3R2	0	broad.mit.edu	GRCh37	19	18277106	18277106	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-27-2523-01	TCGA-27-2523-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222254.8:c.1553delT	p.Met518SerfsTer6	p.M518Sfs*6	ENST00000222254	NM_005027.3	518	aTg/ag	0			1			-	M/X	uc002nia.1	protein_coding	YES	CCDS12371.1			1553/2187									lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6	c.(1552-1554)ATGfs			Prints_domain:PR00678,hmmpanther:PTHR10155,hmmpanther:PTHR10155:SF1	phosphoinositide-3-kinase, regulatory subunit 2				ENSP00000222254		16-Dec										16-Dec	.		ENST00000222254	Transcript	1		fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	ENSG00000105647	g.chr19:18277106delT	8980			HIGH								--	--	1																																		PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA		1			p.M518fs	NM_005027	NP_005018				P85B_HUMAN	PIK3R2	HGNC	O00459	P85B_HUMAN			Q96CK7_HUMAN,M0QYU3_HUMAN		12	2065	+			UPI000006EF95	518					deletion	PIK3R2,frameshift_variant,p.Met518SerfsTer6,ENST00000222254,NM_005027.3;PIK3R2,frameshift_variant,p.Met518SerfsTer6,ENST00000593731,;PIK3R2,frameshift_variant,p.Met8SerfsTer6,ENST00000464016,;PIK3R2,3_prime_UTR_variant,,ENST00000426902,;PIK3R2,upstream_gene_variant,,ENST00000459743,;PIK3R2,downstream_gene_variant,,ENST00000600533,;PIK3R2,downstream_gene_variant,,ENST00000474310,;	uc002nia.1	c.1553delT	2153/4033	5	5			c.1553delT						19	DEL	c.(1552-1554)ATGfs	39	39			lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6	Broad	phosphoinositide-3-kinase, regulatory subunit 2			18277106		0.428	ENSG00000105647	11722	g.chr19:18277106delT	fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			186			186														0.3	1	1	0	1	0	0	0	0	0	--	--		0	-			PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	201	GBM-27-2523-TP	p.M518fs	T	GAGAAAGAGATGCAAAGGTGA	NM_005027	NP_005018	18277106	O00459	P85B_HUMAN	0			12	2065	+	-	-			Frame_Shift_Del	518						
PIK3R2	5296		GRCh37	19	18280055	18280055	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000222254.8:c.2138C>T	p.Ala713Val	p.A713V	ENST00000222254	NM_005027.3	713	gCg/gTg	0																																																																																																																																																																																																																																												
PIK3R3	0	broad.mit.edu	GRCh37	1	46509434	46509434	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262741.5:c.1297C>A	p.Gln433Lys	p.Q433K	ENST00000262741	NM_003629.3	433	Cag/Aag	0			1			T	Q/K	uc001cpb.3	protein_coding	YES	CCDS529.1			1297/1386										0	c.(1297-1299)CAG>AAG			Prints_domain:PR00401,Prints_domain:PR00678,Superfamily_domains:SSF55550,SMART_domains:SM00252,Gene3D:3.30.505.10,hmmpanther:PTHR10155,PROSITE_profiles:PS50001	phosphoinositide-3-kinase, regulatory subunit 3				ENSP00000262741		10-Oct									COSM3400842	10-Oct	.		ENST00000262741	Transcript			insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding	ENSG00000117461	g.chr1:46509434G>T	8981			MODERATE		0.2	neutral	getma.org/?cm=msa&ty=f&p=P55G_HUMAN&rb=358&re=452&var=Q433K	getma.org/pdb.php?prot=P55G_HUMAN&from=358&to=452&var=Q433K	getma.org/?cm=var&var=hg19,1,46509434,G,T&fts=all	Q433K	--	--	1																																		PIK3R3_uc009vyb.2_Missense_Mutation_p.Q374K|PIK3R3_uc009vyc.2_Missense_Mutation_p.Q450K|PIK3R3_uc001cpc.3_Missense_Mutation_p.Q433K|PIK3R3_uc010olw.1_Missense_Mutation_p.Q479K|PIK3R3_uc010olv.1_Missense_Mutation_p.Q223K	1	1		benign(0.054)	p.Q433K	NM_003629	NP_003620		tolerated(0.43)	1	P55G_HUMAN	PIK3R3	HGNC	Q92569	P55G_HUMAN			Q9UMI3_HUMAN,Q5T4P3_HUMAN		10	2053	-	Acute lymphoblastic leukemia(166;0.155)		UPI000013D318	433			SH2 2.		SNV	PIK3R3,missense_variant,p.Gln433Lys,ENST00000262741,NM_003629.3;PIK3R3,missense_variant,p.Gln433Lys,ENST00000420542,NM_001114172.1;PIK3R3,missense_variant,p.Gln433Lys,ENST00000372006,;PIK3R3,missense_variant,p.Gln374Lys,ENST00000354242,;PIK3R3,missense_variant,p.Gln338Lys,ENST00000340332,;PIK3R3,missense_variant,p.Gln374Lys,ENST00000423209,;PIK3R3,missense_variant,p.Gln479Lys,ENST00000540385,;RP4-533D7.4,upstream_gene_variant,,ENST00000450004,;PIK3R3,non_coding_transcript_exon_variant,,ENST00000488808,;	uc001cpb.3	c.1297C>A	1987/5609	2	2			c.1297C>A						1	SNP	c.(1297-1299)CAG>AAG	45	45				0	Broad	phosphoinositide-3-kinase, regulatory subunit 3			46509434		0.532	ENSG00000117461	11723	g.chr1:46509434G>T	insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding							-7.839253	KEEP	1	2	0.333333333	36	36	1	2	0.333333333	7.854811	36	36	0.042857	1	0	0	0	0	1	0	0	0	--	--		0	T			PIK3R3_uc009vyb.2_Missense_Mutation_p.Q374K|PIK3R3_uc009vyc.2_Missense_Mutation_p.Q450K|PIK3R3_uc001cpc.3_Missense_Mutation_p.Q433K|PIK3R3_uc010olw.1_Missense_Mutation_p.Q479K|PIK3R3_uc010olv.1_Missense_Mutation_p.Q223K	235	GBM-32-2491-TP	p.Q433K	G	GATGTCTGCTGGTAATGGAGC	NM_003629	NP_003620	46509434	Q92569	P55G_HUMAN	0			10	2053	-	T	T	Acute lymphoblastic leukemia(166;0.155)		Missense_Mutation	433			SH2 2.			
PIK3R5	23533	broad.mit.edu	GRCh37	17	8784088	8784088	+	synonymous_variant	Silent	SNP	C	C	T	rs141893152	byFrequency	TCGA-06-1804-01	TCGA-06-1804-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000447110.1:c.2511G>A	p.Pro837=	p.P837=	ENST00000447110	NM_001251855.1	837	ccG/ccA	0	T:0.0009	T:0.0008	1	T:0		T	P	uc002glt.2	protein_coding	YES	CCDS11147.1			2511/2643									breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5	c.(2509-2511)CCG>CCA			Pfam_domain:PF10486,hmmpanther:PTHR15593:SF2,hmmpanther:PTHR15593	phosphoinositide-3-kinase, regulatory subunit 5		T:0	T:0	ENSP00000392812	T:0	19/19	6.59E-05	0.000484	8.68E-05			3.03E-05			rs141893152,COSM2152490	19/19	common_variant		ENST00000447110	Transcript	1	T:0.0002	platelet activation	cytosol|membrane|nucleus		ENSG00000141506	g.chr17:8784088C>T	30035			LOW								--	--	1																																		PIK3R5_uc010vuz.1_Silent_p.P837P|PIK3R5_uc002glu.3_Silent_p.P451P	0,1	1			p.P837P	NM_014308	NP_055123	T:0		0,1	PI3R5_HUMAN	PIK3R5	HGNC	Q8WYR1	PI3R5_HUMAN			L7RT34_HUMAN,J3KT66_HUMAN,J3KRE9_HUMAN		19	2578	-			UPI0000071DB4	837					SNV	PIK3R5,synonymous_variant,p.=,ENST00000447110,NM_001251855.1,NM_001142633.2,NM_001251852.1,NM_001251853.1,NM_001251851.1;PIK3R5,synonymous_variant,p.=,ENST00000581552,NM_014308.3;PIK3R5,synonymous_variant,p.=,ENST00000584803,;PIK3R5,3_prime_UTR_variant,,ENST00000585260,;PIK3R5,non_coding_transcript_exon_variant,,ENST00000578743,;PIK3R5,3_prime_UTR_variant,,ENST00000269300,;PIK3R5,non_coding_transcript_exon_variant,,ENST00000578515,;PIK3R5,non_coding_transcript_exon_variant,,ENST00000583810,;PIK3R5,non_coding_transcript_exon_variant,,ENST00000577214,;	uc002glt.2	c.2511G>A	2636/4488	2	2			c.2511G>A						17	SNP	c.(2509-2511)CCG>CCA	36	36			breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5	Broad	phosphoinositide-3-kinase, regulatory subunit 5			8784088		0.647	ENSG00000141506	11725	g.chr17:8784088C>T	platelet activation	cytosol|membrane|nucleus		NSCLC(18;589 615 7696 20311 50332)			NSCLC(18;589 615 7696 20311 50332)			69.952636	KEEP	17	11	-1	27	26	17	11	-1	71.436383	27	26	0.347222	1	0	0	0	0	0	0	1	0	--	--		0	T			PIK3R5_uc010vuz.1_Silent_p.P837P|PIK3R5_uc002glu.3_Silent_p.P451P	79	GBM-06-1804-TP	p.P837P	C	GCTTGTAGCACGGTGAGACCT	NM_014308	NP_055123	8784088	Q8WYR1	PI3R5_HUMAN	0			19	2578	-	T	T			Silent	837						
PIK3R5	0	broad.mit.edu	GRCh37	17	8784974	8784974	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6700-01	TCGA-06-6700-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000447110.1:c.2355C>T	p.Asn785=	p.N785=	ENST00000447110	NM_001251855.1	785	aaC/aaT	0			1			A	N	uc002glt.2	protein_coding	YES	CCDS11147.1			2355/2643									breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5	c.(2353-2355)AAC>AAT			Pfam_domain:PF10486,hmmpanther:PTHR15593:SF2,hmmpanther:PTHR15593	phosphoinositide-3-kinase, regulatory subunit 5				ENSP00000392812		17/19									COSM3403414	17/19	.		ENST00000447110	Transcript	1		platelet activation	cytosol|membrane|nucleus		ENSG00000141506	g.chr17:8784974G>A	30035			LOW								--	--	1																																		PIK3R5_uc010vuz.1_Silent_p.N785N|PIK3R5_uc002glu.3_Silent_p.N399N	1	1			p.N785N	NM_014308	NP_055123			1	PI3R5_HUMAN	PIK3R5	HGNC	Q8WYR1	PI3R5_HUMAN			L7RT34_HUMAN,J3KT66_HUMAN,J3KRE9_HUMAN		17	2422	-			UPI0000071DB4	785					SNV	PIK3R5,synonymous_variant,p.=,ENST00000447110,NM_001251855.1,NM_001142633.2,NM_001251852.1,NM_001251853.1,NM_001251851.1;PIK3R5,synonymous_variant,p.=,ENST00000581552,NM_014308.3;PIK3R5,synonymous_variant,p.=,ENST00000584803,;PIK3R5,synonymous_variant,p.=,ENST00000585260,;PIK3R5,non_coding_transcript_exon_variant,,ENST00000578743,;PIK3R5,3_prime_UTR_variant,,ENST00000269300,;PIK3R5,non_coding_transcript_exon_variant,,ENST00000578515,;PIK3R5,non_coding_transcript_exon_variant,,ENST00000583810,;PIK3R5,non_coding_transcript_exon_variant,,ENST00000577214,;	uc002glt.2	c.2355C>T	2480/4488	2	2			c.2355C>T						17	SNP	c.(2353-2355)AAC>AAT	30	30			breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5	Broad	phosphoinositide-3-kinase, regulatory subunit 5			8784974		0.493	ENSG00000141506	11725	g.chr17:8784974G>A	platelet activation	cytosol|membrane|nucleus		NSCLC(18;589 615 7696 20311 50332)			NSCLC(18;589 615 7696 20311 50332)			4.305346	KEEP	1	2	-1	16	10	1	2	-1	8.093844	16	10	0.115385	1	0	0	0	0	0	0	1	0	--	--		0	A			PIK3R5_uc010vuz.1_Silent_p.N785N|PIK3R5_uc002glu.3_Silent_p.N399N	114	GBM-06-6700-TP	p.N785N	G	TGGATTTGGAGTTCTGCCTTT	NM_014308	NP_055123	8784974	Q8WYR1	PI3R5_HUMAN	0			17	2422	-	A	A			Silent	785						
PIK3R5	0	broad.mit.edu	GRCh37	17	8792082	8792082	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01	TCGA-12-0615-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000447110.1:c.1022C>T	p.Ala341Val	p.A341V	ENST00000447110	NM_001251855.1	341	gCc/gTc	0			1			A	A/V	uc002glt.2	protein_coding	YES	CCDS11147.1			1022/2643									breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5	c.(1021-1023)GCC>GTC			Pfam_domain:PF10486,hmmpanther:PTHR15593:SF2,hmmpanther:PTHR15593	phosphoinositide-3-kinase, regulatory subunit 5				ENSP00000392812		19-Oct									COSM1579096	19-Oct	.		ENST00000447110	Transcript	1		platelet activation	cytosol|membrane|nucleus		ENSG00000141506	g.chr17:8792082G>A	30035			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=PI3R5_HUMAN&rb=6&re=880&var=A341V	NA	getma.org/?cm=var&var=hg19,17,8792082,G,A&fts=all	A341V	--	--	1																																		PIK3R5_uc010vuz.1_Missense_Mutation_p.A341V|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Missense_Mutation_p.P290S|PIK3R5_uc010cob.1_5'UTR	1	1		benign(0.021)	p.A341V	NM_014308	NP_055123		tolerated(0.17)	1	PI3R5_HUMAN	PIK3R5	HGNC	Q8WYR1	PI3R5_HUMAN			L7RT34_HUMAN,J3KT66_HUMAN,J3KRE9_HUMAN		10	1089	-			UPI0000071DB4	341	DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).				SNV	PIK3R5,missense_variant,p.Ala341Val,ENST00000447110,NM_001251855.1,NM_001142633.2,NM_001251852.1,NM_001251853.1,NM_001251851.1;PIK3R5,missense_variant,p.Ala341Val,ENST00000581552,NM_014308.3;PIK3R5,missense_variant,p.Ala341Val,ENST00000584803,;PIK3R5,non_coding_transcript_exon_variant,,ENST00000578457,;PIK3R5,non_coding_transcript_exon_variant,,ENST00000580959,;PIK3R5,non_coding_transcript_exon_variant,,ENST00000584456,;PIK3R5,upstream_gene_variant,,ENST00000578743,;PIK3R5,downstream_gene_variant,,ENST00000577981,;PIK3R5,downstream_gene_variant,,ENST00000583812,;PIK3R5,3_prime_UTR_variant,,ENST00000269300,;PIK3R5,non_coding_transcript_exon_variant,,ENST00000578515,;PIK3R5,upstream_gene_variant,,ENST00000577214,;PIK3R5,upstream_gene_variant,,ENST00000583039,;	uc002glt.2	c.1022C>T	1147/4488	2	2			c.1022C>T						17	SNP	c.(1021-1023)GCC>GTC	32	32			breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5	Broad	phosphoinositide-3-kinase, regulatory subunit 5			8792082		0.502	ENSG00000141506	11725	g.chr17:8792082G>A	platelet activation	cytosol|membrane|nucleus		NSCLC(18;589 615 7696 20311 50332)			NSCLC(18;589 615 7696 20311 50332)			-7.724687	KEEP	2	1	-1	30	37	2	1	-1	6.554822	30	37	0.046154	1	0	0	0	0	1	0	0	0	--	--		0	A			PIK3R5_uc010vuz.1_Missense_Mutation_p.A341V|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Missense_Mutation_p.P290S|PIK3R5_uc010cob.1_5'UTR	117	GBM-12-0615-TP	p.A341V	G	ATCTCTCTCGGCACAGTGCCC	NM_014308	NP_055123	8792082	Q8WYR1	PI3R5_HUMAN	0			10	1089	-	A	A			Missense_Mutation	341	DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).					
PIK3R5	0	broad.mit.edu	GRCh37	17	8792501	8792501	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-28-5204-01	TCGA-28-5204-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000447110.1:c.850C>A	p.Pro284Thr	p.P284T	ENST00000447110	NM_001251855.1	284	Cct/Act	0			1			T	P/T	uc002glt.2	protein_coding	YES	CCDS11147.1			850/2643									breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5	c.(850-852)CCT>ACT			Pfam_domain:PF10486,hmmpanther:PTHR15593:SF2,hmmpanther:PTHR15593	phosphoinositide-3-kinase, regulatory subunit 5				ENSP00000392812		19-Sep									COSM3403416	19-Sep	.		ENST00000447110	Transcript	1		platelet activation	cytosol|membrane|nucleus		ENSG00000141506	g.chr17:8792501G>T	30035			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=PI3R5_HUMAN&rb=6&re=880&var=P284T	NA	getma.org/?cm=var&var=hg19,17,8792501,G,T&fts=all	P284T	--	--	1																																		PIK3R5_uc010vuz.1_Missense_Mutation_p.P284T|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Silent_p.S232S|PIK3R5_uc010cob.1_5'UTR	1	1		probably_damaging(0.998)	p.P284T	NM_014308	NP_055123		deleterious(0.04)	1	PI3R5_HUMAN	PIK3R5	HGNC	Q8WYR1	PI3R5_HUMAN			L7RT34_HUMAN,J3KT66_HUMAN,J3KRE9_HUMAN		9	917	-			UPI0000071DB4	284	AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122).				SNV	PIK3R5,missense_variant,p.Pro284Thr,ENST00000447110,NM_001251855.1,NM_001142633.2,NM_001251852.1,NM_001251853.1,NM_001251851.1;PIK3R5,missense_variant,p.Pro284Thr,ENST00000581552,NM_014308.3;PIK3R5,missense_variant,p.Pro284Thr,ENST00000584803,;PIK3R5,non_coding_transcript_exon_variant,,ENST00000578457,;PIK3R5,non_coding_transcript_exon_variant,,ENST00000580959,;PIK3R5,non_coding_transcript_exon_variant,,ENST00000584456,;PIK3R5,non_coding_transcript_exon_variant,,ENST00000583812,;PIK3R5,upstream_gene_variant,,ENST00000578743,;PIK3R5,downstream_gene_variant,,ENST00000577981,;PIK3R5,3_prime_UTR_variant,,ENST00000269300,;PIK3R5,non_coding_transcript_exon_variant,,ENST00000578515,;PIK3R5,upstream_gene_variant,,ENST00000577214,;PIK3R5,upstream_gene_variant,,ENST00000583039,;	uc002glt.2	c.850C>A	975/4488	1	1			c.850C>A						17	SNP	c.(850-852)CCT>ACT	5	5			breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5	Broad	phosphoinositide-3-kinase, regulatory subunit 5			8792501		0.483	ENSG00000141506	11725	g.chr17:8792501G>T	platelet activation	cytosol|membrane|nucleus		NSCLC(18;589 615 7696 20311 50332)			NSCLC(18;589 615 7696 20311 50332)			-10.773554	KEEP	2	3	0.4	37	57	2	3	0.4	6.701078	37	57	0.049383	1	0	0	0	0	1	0	0	0	--	--		0	T			PIK3R5_uc010vuz.1_Missense_Mutation_p.P284T|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Silent_p.S232S|PIK3R5_uc010cob.1_5'UTR	215	GBM-28-5204-TP	p.P284T	G	CTGGCGACAGGGATGGGGATG	NM_014308	NP_055123	8792501	Q8WYR1	PI3R5_HUMAN	0			9	917	-	T	T			Missense_Mutation	284	AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122).					
PIK3R5	23533		GRCh37	17	8791674	8791674	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000447110.1:c.1430G>A	p.Arg477His	p.R477H	ENST00000447110	NM_001251855.1	477	cGc/cAc	0																																																																																																																																																																																																																																												
PIK3R6	0	broad.mit.edu	GRCh37	17	8741187	8741187	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01	TCGA-76-4928-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311434.9:c.191C>T	p.Ala64Val	p.A64V	ENST00000311434	NM_001010855.2	64	gCg/gTg	0			1			A	A/V	uc002glq.1	protein_coding	YES				191/2262										0	c.(190-192)GCG>GTG			hmmpanther:PTHR15593,hmmpanther:PTHR15593:SF1,Pfam_domain:PF10486	phosphoinositide-3-kinase, regulatory subunit 6				ENSP00000475670		21-May									COSM3403413	21-May	.		ENST00000311434	Transcript			platelet activation	cytosol		ENSG00000174083	g.chr17:8741187G>A	27101			MODERATE								--	--	1																																		PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA	1	1		possibly_damaging(0.765)	p.A64V	NM_001010855	NP_001010855		deleterious(0.03)	1	PI3R6_HUMAN	PIK3R6	HGNC	Q5UE93	PI3R6_HUMAN			U3KQ99_HUMAN		5	431	-			UPI00015DFB1F	64					SNV	PIK3R6,missense_variant,p.Ala64Val,ENST00000311434,NM_001010855.2;PIK3R6,splice_region_variant,,ENST00000434064,;PIK3R6,splice_region_variant,,ENST00000583984,;PIK3R6,splice_region_variant,,ENST00000452122,;	uc002glq.1	c.191C>T	431/3038	2	2			c.191C>T						17	SNP	c.(190-192)GCG>GTG	47	47				0	Broad	phosphoinositide-3-kinase, regulatory subunit 6			8741187		0.587	ENSG00000174083	11726	g.chr17:8741187G>A	platelet activation	cytosol								6.311284	KEEP	1	11	-1	55	61	1	11	-1	23.242959	55	61	0.108108	1	0	0	0	0	1	0	0	0	--	--		0	A			PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA	268	GBM-76-4928-TP	p.A64V	G	CTGGCTTTCCGCCTGGAAAAC	NM_001010855	NP_001010855	8741187	Q5UE93	PI3R6_HUMAN	0			5	431	-	A	A			Missense_Mutation	64						
PIKFYVE	200576	broad.mit.edu	GRCh37	2	209179975	209179975	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-1804-01	TCGA-06-1804-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264380.4:c.1885C>G	p.Leu629Val	p.L629V	ENST00000264380	NM_015040.3	629	Ctg/Gtg	0			1			G	L/V	uc002vcz.2	protein_coding	YES	CCDS2382.1			1885/6297									ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10	c.(1885-1887)CTG>GTG			Low_complexity_(Seg):seg,Superfamily_domains:SSF54849,Pfam_domain:PF00118,Gene3D:3.30.260.10,hmmpanther:PTHR11353:SF57,hmmpanther:PTHR11353	phosphatidylinositol-3-phosphate 5-kinase type				ENSP00000264380		15/42									COSM3407527	15/42	.		ENST00000264380	Transcript	1		cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	ENSG00000115020	g.chr2:209179975C>G	23785			MODERATE		0.94	low	getma.org/?cm=msa&ty=f&p=FYV1_HUMAN&rb=592&re=867&var=L629V	getma.org/pdb.php?prot=FYV1_HUMAN&from=592&to=867&var=L629V	getma.org/?cm=var&var=hg19,2,209179975,C,G&fts=all	L629V	--	--	1																																		PIKFYVE_uc010fun.1_Missense_Mutation_p.L310V|PIKFYVE_uc002vcy.1_Missense_Mutation_p.L573V	1	1		probably_damaging(0.999)	p.L629V	NM_015040	NP_055855		tolerated(0.13)	1	FYV1_HUMAN	PIKFYVE	HGNC	Q9Y2I7	FYV1_HUMAN					15	2043	+			UPI0000366FD6	629					SNV	PIKFYVE,missense_variant,p.Leu629Val,ENST00000264380,NM_015040.3;PIKFYVE,missense_variant,p.Leu573Val,ENST00000452564,;PIKFYVE,3_prime_UTR_variant,,ENST00000443896,;	uc002vcz.2	c.1885C>G	2043/9901	3	3			c.1885C>G						2	SNP	c.(1885-1887)CTG>GTG	64	64			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10	Broad	phosphatidylinositol-3-phosphate 5-kinase type			209179975		0.423	ENSG00000115020	11727	g.chr2:209179975C>G	cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			756			756	-2.253483	KEEP	1	5	-1	28	42	1	5	-1	9.969177	28	42	0.064516	1	0	0	0	0	1	0	0	0	--	--		0	G			PIKFYVE_uc010fun.1_Missense_Mutation_p.L310V|PIKFYVE_uc002vcy.1_Missense_Mutation_p.L573V	79	GBM-06-1804-TP	p.L629V	C	TAGTGACTCACTGTCATCATC	NM_015040	NP_055855	209179975	Q9Y2I7	FYV1_HUMAN	0			15	2043	+	G	G			Missense_Mutation	629						
PIKFYVE	0	broad.mit.edu	GRCh37	2	209150648	209150648	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01	TCGA-76-4927-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264380.4:c.812C>T	p.Ala271Val	p.A271V	ENST00000264380	NM_015040.3	271	gCc/gTc	0			1			T	A/V	uc002vcz.2	protein_coding	YES	CCDS2382.1			812/6297									ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10	c.(811-813)GCC>GTC			hmmpanther:PTHR11353:SF57,hmmpanther:PTHR11353	phosphatidylinositol-3-phosphate 5-kinase type				ENSP00000264380		Jun-42									COSM3407525	Jun-42	.		ENST00000264380	Transcript	1		cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	ENSG00000115020	g.chr2:209150648C>T	23785			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=FYV1_HUMAN&rb=243&re=327&var=A271V	NA	getma.org/?cm=var&var=hg19,2,209150648,C,T&fts=all	A271V	--	--	1																																		PIKFYVE_uc010fun.1_5'UTR|PIKFYVE_uc002vcy.1_Missense_Mutation_p.A271V|PIKFYVE_uc002vcv.2_Missense_Mutation_p.A174V|PIKFYVE_uc002vcw.2_Missense_Mutation_p.A271V|PIKFYVE_uc002vcx.2_Missense_Mutation_p.A185V	1	1		benign(0.184)	p.A271V	NM_015040	NP_055855		deleterious(0.03)	1	FYV1_HUMAN	PIKFYVE	HGNC	Q9Y2I7	FYV1_HUMAN					6	970	+			UPI0000366FD6	271					SNV	PIKFYVE,missense_variant,p.Ala271Val,ENST00000264380,NM_015040.3;PIKFYVE,missense_variant,p.Ala271Val,ENST00000452564,;PIKFYVE,missense_variant,p.Ala174Val,ENST00000392202,NM_152671.3;PIKFYVE,missense_variant,p.Ala271Val,ENST00000407449,NM_001178000.1;PIKFYVE,missense_variant,p.Ala185Val,ENST00000308862,;PIKFYVE,downstream_gene_variant,,ENST00000422495,;PIKFYVE,3_prime_UTR_variant,,ENST00000443896,;	uc002vcz.2	c.812C>T	970/9901	2	2			c.812C>T						2	SNP	c.(811-813)GCC>GTC	17	17			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10	Broad	phosphatidylinositol-3-phosphate 5-kinase type			209150648		0.403	ENSG00000115020	11727	g.chr2:209150648C>T	cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			756			756	-36.49783	KEEP	3	3	-1	113	126	3	3	-1	8.926977	113	126	0.027174	1	0	0	0	0	1	0	0	0	--	--		0	T			PIKFYVE_uc010fun.1_5'UTR|PIKFYVE_uc002vcy.1_Missense_Mutation_p.A271V|PIKFYVE_uc002vcv.2_Missense_Mutation_p.A174V|PIKFYVE_uc002vcw.2_Missense_Mutation_p.A271V|PIKFYVE_uc002vcx.2_Missense_Mutation_p.A185V	267	GBM-76-4927-TP	p.A271V	C	GATGATTTGGCCTGGCAAAGG	NM_015040	NP_055855	209150648	Q9Y2I7	FYV1_HUMAN	0			6	970	+	T	T			Missense_Mutation	271						
PIKFYVE	200576		GRCh37	2	209153464	209153464	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000264380.4:c.833C>T	p.Pro278Leu	p.P278L	ENST00000264380	NM_015040.3	278	cCa/cTa	0																																																																																																																																																																																																																																												
PILRA	0	broad.mit.edu	GRCh37	7	99996939	99996939	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01	TCGA-28-2514-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000198536.2:c.733C>T	p.Pro245Ser	p.P245S	ENST00000198536	NM_013439.2	245	Cca/Tca	0			1			T	P/S	uc003uuo.1	protein_coding	YES	CCDS5691.1			733/912									skin(1)	1	c.(733-735)CCA>TCA			hmmpanther:PTHR15549,hmmpanther:PTHR15549:SF1	paired immunoglobulin-like type 2 receptor alpha				ENSP00000198536		7-May									COSM3412591	7-May	.		ENST00000198536	Transcript			interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity	ENSG00000085514	g.chr7:99996939C>T	20396			MODERATE								--	--	1																																		PILRA_uc011kjo.1_Missense_Mutation_p.P172S|PILRA_uc003uup.1_Missense_Mutation_p.P172S|PILRA_uc003uuq.1_Silent_p.S160S	1	1		benign(0.017)	p.P245S	NM_013439	NP_038467		tolerated(0.18)	1	PILRA_HUMAN	PILRA	HGNC	Q9UKJ1	PILRA_HUMAN					5	945	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		UPI000013C61C	245			Cytoplasmic (Potential).		SNV	PILRA,missense_variant,p.Pro245Ser,ENST00000198536,NM_013439.2;PILRA,missense_variant,p.Pro172Ser,ENST00000453419,NM_178272.1;PILRA,missense_variant,p.Pro172Ser,ENST00000350573,;PILRA,synonymous_variant,p.=,ENST00000394000,NM_178273.1;ZCWPW1,downstream_gene_variant,,ENST00000398027,NM_017984.4;ZCWPW1,downstream_gene_variant,,ENST00000324725,;ZCWPW1,downstream_gene_variant,,ENST00000360951,NM_001258008.1;ZCWPW1,downstream_gene_variant,,ENST00000490721,;ZCWPW1,downstream_gene_variant,,ENST00000471336,;PILRA,downstream_gene_variant,,ENST00000432297,;ZCWPW1,downstream_gene_variant,,ENST00000490089,;ZCWPW1,downstream_gene_variant,,ENST00000479315,;	uc003uuo.1	c.733C>T	945/1313	2	2			c.733C>T						7	SNP	c.(733-735)CCA>TCA	42	42			skin(1)	1	Broad	paired immunoglobulin-like type 2 receptor alpha			99996939		0.483	ENSG00000085514	11728	g.chr7:99996939C>T	interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity							22.761344	KEEP	5	11	-1	31	35	5	11	-1	29.902232	31	35	0.171429	1	0	0	0	0	1	0	0	0	--	--		0	T			PILRA_uc011kjo.1_Missense_Mutation_p.P172S|PILRA_uc003uup.1_Missense_Mutation_p.P172S|PILRA_uc003uuq.1_Silent_p.S160S	214	GBM-28-2514-TP	p.P245S	C	CACAGAGGAGCCATATGAGAA	NM_013439	NP_038467	99996939	Q9UKJ1	PILRA_HUMAN	0			5	945	+	T	T	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		Missense_Mutation	245			Cytoplasmic (Potential).			
PILRB	0	broad.mit.edu	GRCh37	7	99955938	99955938	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-74-6573-01	TCGA-74-6573-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000452089.1:c.13C>T	p.Leu5=	p.L5=	ENST00000452089		5	Ctg/Ttg	0			1			T	L	uc003uuk.2	protein_coding		CCDS43622.1			13/684										0	c.(13-15)CTG>TTG			hmmpanther:PTHR15549,hmmpanther:PTHR15549:SF1,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	paired immunoglobulin-like type 2 receptor beta				ENSP00000391748		9-Jun									COSM3412589,COSM3412590	9-Jun	.		ENST00000452089	Transcript			activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity	ENSG00000121716	g.chr7:99955938C>T	18297			LOW								--	--	1																																		PILRB_uc003uul.2_Silent_p.L5L|PILRB_uc003uum.1_RNA|PILRB_uc003uun.2_Silent_p.L5L	1,1				p.L5L	NM_013440	NP_038468			1,1	PILRB_HUMAN	PILRB	HGNC	Q9UKJ0	PILRB_HUMAN			D6W5V2_HUMAN,C9JNA4_HUMAN,C9J8P3_HUMAN		15	2509	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		UPI000006EEBC	5					SNV	PILRB,synonymous_variant,p.=,ENST00000610247,;PILRB,synonymous_variant,p.=,ENST00000448382,;PILRB,synonymous_variant,p.=,ENST00000452089,;PILRB,synonymous_variant,p.=,ENST00000457519,;PILRB,synonymous_variant,p.=,ENST00000438028,;PILRB,synonymous_variant,p.=,ENST00000422808,;PILRB,synonymous_variant,p.=,ENST00000419749,;PILRB,synonymous_variant,p.=,ENST00000444073,;PILRB,synonymous_variant,p.=,ENST00000443526,;PILRB,synonymous_variant,p.=,ENST00000609309,;PILRB,synonymous_variant,p.=,ENST00000431140,;PILRB,synonymous_variant,p.=,ENST00000438231,;PILRB,synonymous_variant,p.=,ENST00000608825,;PILRB,downstream_gene_variant,,ENST00000455145,;STAG3L5P-PVRIG2P-PILRB,non_coding_transcript_exon_variant,,ENST00000310771,;STAG3L5P-PVRIG2P-PILRB,non_coding_transcript_exon_variant,,ENST00000444874,;STAG3L5P-PVRIG2P-PILRB,downstream_gene_variant,,ENST00000472646,;PILRB,downstream_gene_variant,,ENST00000493091,;PVRIG2P,downstream_gene_variant,,ENST00000435460,;	uc003uuk.2	c.13C>T	1072/2099	1	1			c.13C>T						7	SNP	c.(13-15)CTG>TTG	8	8				0	Broad	paired immunoglobulin-like type 2 receptor beta			99955938		0.667	ENSG00000121716	11729	g.chr7:99955938C>T	activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity							123.88108	KEEP	27	28	-1	90	72	27	28	-1	133.454638	90	72	0.256983	1	0	0	0	0	0	0	1	0	--	--		0	T			PILRB_uc003uul.2_Silent_p.L5L|PILRB_uc003uum.1_RNA|PILRB_uc003uun.2_Silent_p.L5L	260	GBM-74-6573-TP	p.L5L	C	GGGTCGGCCCCTGCTGCTGCC	NM_013440	NP_038468	99955938	Q9UKJ0	PILRB_HUMAN	0			15	2509	+	T	T	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		Silent	5						
PIM1	5292	broad.mit.edu	GRCh37	6	37138555	37138557	+	inframe_deletion	In_Frame_Del	DEL	AGA	AGA	-			TCGA-06-0644-01	TCGA-06-0644-01	AGA	AGA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373509.5:c.91_93del	p.Lys31del	p.K31del	ENST00000373509	NM_002648.3	30	gAGAag/gag	0			1			-	EK/E	uc003onk.2	protein_coding	YES	CCDS4830.1			89-91/942	T		BCL6		NHL				large_intestine(1)|central_nervous_system(1)	2	c.(88-93)GAGAAG>GAG			hmmpanther:PTHR22984,hmmpanther:PTHR22984:SF4	non-specific serine/threonine protein kinase	Adenosine monophosphate(DB00131)			ENSP00000362608		6-Feb									COSM2151214	6-Feb	.		ENST00000373509	Transcript			cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein binding|protein serine/threonine kinase activity|transcription factor binding	ENSG00000137193	g.chr6:37138555_37138557delAGA	8986	2		MODERATE								--	--	1																																		PIM1_uc011dtw.1_5'Flank	1	1			p.K31del	NM_002648	NP_002639			1	PIM1_HUMAN	PIM1	HGNC	P11309	PIM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(102;0.241)				2	519_521	+			UPI0000001060	122					deletion	PIM1,inframe_deletion,p.Lys31del,ENST00000373509,NM_002648.3,NM_001243186.1;PIM1,upstream_gene_variant,,ENST00000468243,;PIM1,upstream_gene_variant,,ENST00000479509,;	uc003onk.2	c.89_91delAGA	462-464/2650	5	5			c.89_91delAGA	T		BCL6		NHL	6	DEL	c.(88-93)GAGAAG>GAG	6	6			large_intestine(1)|central_nervous_system(1)	2	Broad	non-specific serine/threonine protein kinase		Adenosine monophosphate(DB00131)	37138557		0.714	ENSG00000137193	11730	g.chr6:37138555_37138557delAGA	cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			455			455														0.3	1	1	0	1	0	0	0	0	0	--	--		0	-			PIM1_uc011dtw.1_5'Flank	58	GBM-06-0644-TP	p.K31del	AGA	CTAGGCAAGGAGAAGGAGCCCCT	NM_002648	NP_002639	37138555	P11309	PIM1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(102;0.241)		2	519_521	+	-	-			In_Frame_Del	122						
PIM2	11040	broad.mit.edu	GRCh37	X	48771498	48771498	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-0145-01	TCGA-06-0145-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376509.4:c.846G>T	p.Leu282=	p.L282=	ENST00000376509	NM_006875.3	282	ctG/ctT	0	A:0		1			A	L	uc004dls.2	protein_coding	YES	CCDS14312.1			846/936									lung(3)|stomach(1)	4	c.(844-846)CTG>CTT			Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR22984:SF2,hmmpanther:PTHR22984,PROSITE_profiles:PS50011	serine/threonine protein kinase pim-2			A:0.0001	ENSP00000365692		6-Jun	8.28E-06					5.56E-05			rs376642354,COSM2149722	6-Jun	.		ENST00000376509	Transcript			anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity	ENSG00000102096	g.chrX:48771498C>A	8987			LOW								--	--	1																																		SLC35A2_uc004dlo.1_5'Flank|SLC35A2_uc011mml.1_5'Flank|SLC35A2_uc004dlp.1_5'Flank|SLC35A2_uc011mmm.1_5'Flank|SLC35A2_uc011mmn.1_5'Flank|SLC35A2_uc004dlq.2_5'Flank|SLC35A2_uc011mmo.1_5'Flank	0,1	1			p.L282L	NM_006875	NP_006866			0,1	PIM2_HUMAN	PIM2	HGNC	Q9P1W9	PIM2_HUMAN			C9J8V9_HUMAN		6	1148	-			UPI0000049044	282			Protein kinase.		SNV	PIM2,synonymous_variant,p.=,ENST00000376509,NM_006875.3;SLC35A2,upstream_gene_variant,,ENST00000376521,NM_001042498.2;SLC35A2,upstream_gene_variant,,ENST00000445167,NM_001032289.1,NM_001282648.1;SLC35A2,upstream_gene_variant,,ENST00000452555,NM_001282651.1;SLC35A2,upstream_gene_variant,,ENST00000247138,NM_005660.1;SLC35A2,upstream_gene_variant,,ENST00000413561,NM_001282649.1;SLC35A2,upstream_gene_variant,,ENST00000376515,;PIM2,downstream_gene_variant,,ENST00000442430,;SLC35A2,upstream_gene_variant,,ENST00000446885,;SLC35A2,upstream_gene_variant,,ENST00000376529,NM_001282647.1;SLC35A2,upstream_gene_variant,,ENST00000376512,;PIM2,non_coding_transcript_exon_variant,,ENST00000485431,;	uc004dls.2	c.846G>T	1036/2075	2	2			c.846G>T						23	SNP	c.(844-846)CTG>CTT	32	32			lung(3)|stomach(1)	4	Broad	serine/threonine protein kinase pim-2			48771498		0.577	ENSG00000102096	11731	g.chrX:48771498C>A	anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			33			33	26.571433	KEEP	4	5	0.555555556	8	4	4	5	0.555555556	26.664923	8	4	0.428571	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC35A2_uc004dlo.1_5'Flank|SLC35A2_uc011mml.1_5'Flank|SLC35A2_uc004dlp.1_5'Flank|SLC35A2_uc011mmm.1_5'Flank|SLC35A2_uc011mmn.1_5'Flank|SLC35A2_uc004dlq.2_5'Flank|SLC35A2_uc011mmo.1_5'Flank	23	GBM-06-0145-TP	p.L282L	C	TCCAGGGGTCCAGCAGGATCT	NM_006875	NP_006866	48771498	Q9P1W9	PIM2_HUMAN	0			6	1148	-	A	A			Silent	282			Protein kinase.			
PIM2	11040	broad.mit.edu	GRCh37	X	48775821	48775821	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0649-01	TCGA-06-0649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376509.4:c.163C>T	p.Arg55Ter	p.R55*	ENST00000376509	NM_006875.3	55	Cga/Tga	0			1			A	R/*	uc004dls.2	protein_coding	YES	CCDS14312.1			163/936									lung(3)|stomach(1)	4	c.(163-165)CGA>TGA			Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:3.30.200.20,PROSITE_patterns:PS00107,hmmpanther:PTHR22984:SF2,hmmpanther:PTHR22984,PROSITE_profiles:PS50011	serine/threonine protein kinase pim-2				ENSP00000365692		6-Feb									COSM2151508	6-Feb	.		ENST00000376509	Transcript			anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity	ENSG00000102096	g.chrX:48775821G>A	8987			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,X,48775821,G,A&fts=all	R55*	--	--	1																																			1	1			p.R55*	NM_006875	NP_006866			1	PIM2_HUMAN	PIM2	HGNC	Q9P1W9	PIM2_HUMAN			C9J8V9_HUMAN		2	465	-			UPI0000049044	55			Protein kinase.		SNV	PIM2,stop_gained,p.Arg55Ter,ENST00000376509,NM_006875.3;OTUD5,downstream_gene_variant,,ENST00000156084,NM_017602.3;OTUD5,downstream_gene_variant,,ENST00000376488,;OTUD5,downstream_gene_variant,,ENST00000396743,NM_001136157.1,NM_001136158.1;OTUD5,downstream_gene_variant,,ENST00000455452,;OTUD5,downstream_gene_variant,,ENST00000428668,NM_001136159.1;PIM2,upstream_gene_variant,,ENST00000442430,;PIM2,upstream_gene_variant,,ENST00000485431,;	uc004dls.2	c.163C>T	353/2075	5	2			c.163C>T						23	SNP	c.(163-165)CGA>TGA	22	22			lung(3)|stomach(1)	4	Broad	serine/threonine protein kinase pim-2			48775821		0.652	ENSG00000102096	11731	g.chrX:48775821G>A	anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			33			33	28.417612	KEEP	9	6	-1	30	17	9	6	-1	31.60631	30	17	0.25	1	0	0	0	0	0	1	0	0	--	--		0	A				62	GBM-06-0649-TP	p.R55*	G	ACCTGGAGTCGATCTGTGAGG	NM_006875	NP_006866	48775821	Q9P1W9	PIM2_HUMAN	0			2	465	-	A	A			Nonsense_Mutation	55			Protein kinase.			
PIM2	0	broad.mit.edu	GRCh37	X	48771532	48771532	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01	TCGA-19-5955-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376509.4:c.812C>T	p.Pro271Leu	p.P271L	ENST00000376509	NM_006875.3	271	cCt/cTt	0			1			A	P/L	uc004dls.2	protein_coding	YES	CCDS14312.1			812/936									lung(3)|stomach(1)	4	c.(811-813)CCT>CTT			Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR22984:SF2,hmmpanther:PTHR22984,PROSITE_profiles:PS50011	serine/threonine protein kinase pim-2				ENSP00000365692		6-Jun									COSM3406425	6-Jun	.		ENST00000376509	Transcript			anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity	ENSG00000102096	g.chrX:48771532G>A	8987			MODERATE		4.135	high	getma.org/?cm=msa&ty=f&p=PIM2_HUMAN&rb=32&re=286&var=P271L	getma.org/pdb.php?prot=PIM2_HUMAN&from=32&to=286&var=P271L	getma.org/?cm=var&var=hg19,X,48771532,G,A&fts=all	P271L	--	--	1																																		SLC35A2_uc004dlo.1_5'Flank|SLC35A2_uc011mml.1_5'Flank|SLC35A2_uc004dlp.1_5'Flank|SLC35A2_uc011mmm.1_5'Flank|SLC35A2_uc011mmn.1_5'Flank|SLC35A2_uc004dlq.2_5'Flank|SLC35A2_uc011mmo.1_5'Flank	1	1		probably_damaging(0.995)	p.P271L	NM_006875	NP_006866		deleterious(0)	1	PIM2_HUMAN	PIM2	HGNC	Q9P1W9	PIM2_HUMAN			C9J8V9_HUMAN		6	1114	-			UPI0000049044	271			Protein kinase.		SNV	PIM2,missense_variant,p.Pro271Leu,ENST00000376509,NM_006875.3;SLC35A2,upstream_gene_variant,,ENST00000376521,NM_001042498.2;SLC35A2,upstream_gene_variant,,ENST00000445167,NM_001032289.1,NM_001282648.1;SLC35A2,upstream_gene_variant,,ENST00000452555,NM_001282651.1;SLC35A2,upstream_gene_variant,,ENST00000247138,NM_005660.1;SLC35A2,upstream_gene_variant,,ENST00000413561,NM_001282649.1;SLC35A2,upstream_gene_variant,,ENST00000376515,;PIM2,downstream_gene_variant,,ENST00000442430,;SLC35A2,upstream_gene_variant,,ENST00000446885,;SLC35A2,upstream_gene_variant,,ENST00000376529,NM_001282647.1;SLC35A2,upstream_gene_variant,,ENST00000376512,;PIM2,non_coding_transcript_exon_variant,,ENST00000485431,;	uc004dls.2	c.812C>T	1002/2075	2	2			c.812C>T						23	SNP	c.(811-813)CCT>CTT	47	47			lung(3)|stomach(1)	4	Broad	serine/threonine protein kinase pim-2			48771532		0.602	ENSG00000102096	11731	g.chrX:48771532G>A	anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			33			33	23.62258	KEEP	2	6	-1	9	2	2	6	-1	23.738031	9	2	0.411765	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC35A2_uc004dlo.1_5'Flank|SLC35A2_uc011mml.1_5'Flank|SLC35A2_uc004dlp.1_5'Flank|SLC35A2_uc011mmm.1_5'Flank|SLC35A2_uc011mmn.1_5'Flank|SLC35A2_uc004dlq.2_5'Flank|SLC35A2_uc011mmo.1_5'Flank	175	GBM-19-5955-TP	p.P271L	G	TCGGGAAGAAGGTTTGGGGGC	NM_006875	NP_006866	48771532	Q9P1W9	PIM2_HUMAN	0			6	1114	-	A	A			Missense_Mutation	271			Protein kinase.			
PIP	5304	broad.mit.edu	GRCh37	7	142836647	142836647	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5410-01	TCGA-06-5410-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000291009.3:c.353G>A	p.Arg118Gln	p.R118Q	ENST00000291009	NM_002652.2	118	cGg/cAg	0			1			A	R/Q	uc003wcf.1	protein_coding	YES	CCDS34768.1			353/441									ovary(1)	1	c.(352-354)CGG>CAG			hmmpanther:PTHR15096:SF1,hmmpanther:PTHR15096,Pfam_domain:PF05326,PIRSF_domain:PIRSF002572,Superfamily_domains:SSF81296	prolactin-induced protein precursor				ENSP00000291009		4-Apr	8.24E-06					1.50E-05			rs776666213,COSM3411716	4-Apr	.		ENST00000291009	Transcript				extracellular region	actin binding	ENSG00000159763	g.chr7:142836647G>A	8993			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=PIP_HUMAN&rb=3&re=126&var=R118Q	getma.org/pdb.php?prot=PIP_HUMAN&from=3&to=126&var=R118Q	getma.org/?cm=var&var=hg19,7,142836647,G,A&fts=all	R118Q	--	--	1																																			0,1	1		probably_damaging(0.992)	p.R118Q	NM_002652	NP_002643		tolerated(0.15)	0,1	PIP_HUMAN	PIP	HGNC	P12273	PIP_HUMAN		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)			4	389	+	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)	UPI0000131B05	118					SNV	PIP,missense_variant,p.Arg118Gln,ENST00000291009,NM_002652.2;	uc003wcf.1	c.353G>A	393/585	1	1			c.353G>A						7	SNP	c.(352-354)CGG>CAG	62	62			ovary(1)	1	Broad	prolactin-induced protein precursor			142836647		0.453	ENSG00000159763	11738	g.chr7:142836647G>A		extracellular region	actin binding							8.939398	KEEP	7	17	-1	113	149	7	17	-1	54.213314	113	149	0.087452	1	0	0	0	0	1	0	0	0	--	--		0	A				93	GBM-06-5410-TP	p.R118Q	G	GATGTTATTCGGGAATTAGGC	NM_002652	NP_002643	142836647	P12273	PIP_HUMAN	0		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)	4	389	+	A	A	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)	Missense_Mutation	118						
PIP4K2C	79837	broad.mit.edu	GRCh37	12	57994645	57994645	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0238-01	TCGA-06-0238-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354947.5:c.865G>T	p.Asp289Tyr	p.D289Y	ENST00000354947		289	Gac/Tac	0			1			T	D/Y	uc001sou.2	protein_coding	YES	CCDS8946.1			865/1266									central_nervous_system(2)|lung(1)	3	c.(865-867)GAC>TAC			PROSITE_profiles:PS51455,hmmpanther:PTHR23086,hmmpanther:PTHR23086:SF35,Gene3D:1bo1A02,Pfam_domain:PF01504,SMART_domains:SM00330,Superfamily_domains:SSF56104	phosphatidylinositol-5-phosphate 4-kinase, type				ENSP00000347032		10-Aug									COSM3398936	10-Aug	.		ENST00000354947	Transcript				cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	ENSG00000166908	g.chr12:57994645G>T	23786			MODERATE		1.535	low	getma.org/?cm=msa&ty=f&p=PI42C_HUMAN&rb=124&re=420&var=D289Y	getma.org/pdb.php?prot=PI42C_HUMAN&from=124&to=420&var=D289Y	getma.org/?cm=var&var=hg19,12,57994645,G,T&fts=all	D289Y	--	--	1																																		PIP4K2C_uc001sot.2_Missense_Mutation_p.D289Y|PIP4K2C_uc010srs.1_Missense_Mutation_p.D271Y|PIP4K2C_uc010srt.1_Missense_Mutation_p.D241Y	1	1		probably_damaging(0.963)	p.D289Y	NM_001146258	NP_001139730		deleterious(0)	1	PI42C_HUMAN	PIP4K2C	HGNC	Q8TBX8	PI42C_HUMAN			F8VU68_HUMAN		8	996	+	Melanoma(17;0.122)		UPI000003F553	289			PIPK.		SNV	PIP4K2C,missense_variant,p.Asp289Tyr,ENST00000354947,;PIP4K2C,missense_variant,p.Asp289Tyr,ENST00000540759,NM_001146259.1,NM_001146258.1,NM_024779.4;PIP4K2C,missense_variant,p.Asp241Tyr,ENST00000422156,NM_001146260.1;PIP4K2C,missense_variant,p.Asp271Tyr,ENST00000550465,;PIP4K2C,missense_variant,p.Asp97Tyr,ENST00000548264,;DTX3,upstream_gene_variant,,ENST00000548198,;DTX3,upstream_gene_variant,,ENST00000548478,;DTX3,upstream_gene_variant,,ENST00000548804,NM_001286246.1;DTX3,upstream_gene_variant,,ENST00000337737,NM_178502.2;DTX3,upstream_gene_variant,,ENST00000551632,NM_001286245.1;DTX3,upstream_gene_variant,,ENST00000549583,;DTX3,upstream_gene_variant,,ENST00000550596,;DTX3,upstream_gene_variant,,ENST00000551835,;PIP4K2C,downstream_gene_variant,,ENST00000551772,;PIP4K2C,downstream_gene_variant,,ENST00000550095,;PIP4K2C,downstream_gene_variant,,ENST00000550360,;	uc001sou.2	c.865G>T	881/2924	2	2			c.865G>T						12	SNP	c.(865-867)GAC>TAC	48	48			central_nervous_system(2)|lung(1)	3	Broad	phosphatidylinositol-5-phosphate 4-kinase, type			57994645		0.552	ENSG00000166908	11741	g.chr12:57994645G>T		cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			258			258	-12.65228	KEEP	46	36	0.56097561	495	421	46	36	0.56097561	157.03775	495	421	0.077503	1	0	0	0	0	1	0	0	0	--	--		0	T			PIP4K2C_uc001sot.2_Missense_Mutation_p.D289Y|PIP4K2C_uc010srs.1_Missense_Mutation_p.D271Y|PIP4K2C_uc010srt.1_Missense_Mutation_p.D241Y	55	GBM-06-0238-TP	p.D289Y	G	AGGCATCCACGACATCATTCG	NM_001146258	NP_001139730	57994645	Q8TBX8	PI42C_HUMAN	0			8	996	+	T	T	Melanoma(17;0.122)		Missense_Mutation	289			PIPK.			
PIP4K2C	79837	broad.mit.edu	GRCh37	12	57994848	57994848	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0238-01	TCGA-06-0238-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354947.5:c.1068C>G	p.Ile356Met	p.I356M	ENST00000354947		356	atC/atG	0			1			G	I/M	uc001sou.2	protein_coding	YES	CCDS8946.1			1068/1266									central_nervous_system(2)|lung(1)	3	c.(1066-1068)ATC>ATG			PROSITE_profiles:PS51455,hmmpanther:PTHR23086,hmmpanther:PTHR23086:SF35,Gene3D:1bo1A02,Pfam_domain:PF01504,SMART_domains:SM00330,Superfamily_domains:SSF56104	phosphatidylinositol-5-phosphate 4-kinase, type				ENSP00000347032		10-Aug									COSM3398937	10-Aug	.		ENST00000354947	Transcript				cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	ENSG00000166908	g.chr12:57994848C>G	23786			MODERATE		1.665	low	getma.org/?cm=msa&ty=f&p=PI42C_HUMAN&rb=124&re=420&var=I356M	getma.org/pdb.php?prot=PI42C_HUMAN&from=124&to=420&var=I356M	getma.org/?cm=var&var=hg19,12,57994848,C,G&fts=all	I356M	--	--	1																																		PIP4K2C_uc001sot.2_Missense_Mutation_p.I356M|PIP4K2C_uc010srs.1_Missense_Mutation_p.I338M|PIP4K2C_uc010srt.1_Missense_Mutation_p.I308M	1	1		benign(0.196)	p.I356M	NM_001146258	NP_001139730		tolerated(0.1)	1	PI42C_HUMAN	PIP4K2C	HGNC	Q8TBX8	PI42C_HUMAN			F8VU68_HUMAN		8	1199	+	Melanoma(17;0.122)		UPI000003F553	356			PIPK.		SNV	PIP4K2C,missense_variant,p.Ile356Met,ENST00000354947,;PIP4K2C,missense_variant,p.Ile356Met,ENST00000540759,NM_001146259.1,NM_001146258.1,NM_024779.4;PIP4K2C,missense_variant,p.Ile308Met,ENST00000422156,NM_001146260.1;PIP4K2C,missense_variant,p.Ile338Met,ENST00000550465,;DTX3,upstream_gene_variant,,ENST00000548198,;DTX3,upstream_gene_variant,,ENST00000548478,;DTX3,upstream_gene_variant,,ENST00000548804,NM_001286246.1;DTX3,upstream_gene_variant,,ENST00000337737,NM_178502.2;DTX3,upstream_gene_variant,,ENST00000551632,NM_001286245.1;DTX3,upstream_gene_variant,,ENST00000549583,;DTX3,upstream_gene_variant,,ENST00000550596,;DTX3,upstream_gene_variant,,ENST00000551835,;PIP4K2C,downstream_gene_variant,,ENST00000551772,;PIP4K2C,downstream_gene_variant,,ENST00000548264,;PIP4K2C,downstream_gene_variant,,ENST00000550095,;PIP4K2C,downstream_gene_variant,,ENST00000550360,;	uc001sou.2	c.1068C>G	1084/2924	3	3			c.1068C>G						12	SNP	c.(1066-1068)ATC>ATG	50	50			central_nervous_system(2)|lung(1)	3	Broad	phosphatidylinositol-5-phosphate 4-kinase, type			57994848		0.562	ENSG00000166908	11741	g.chr12:57994848C>G		cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			258			258	-11.789075	KEEP	38	30	-1	463	467	38	30	-1	164.486467	463	467	0.065556	1	0	0	0	0	1	0	0	0	--	--		0	G			PIP4K2C_uc001sot.2_Missense_Mutation_p.I356M|PIP4K2C_uc010srs.1_Missense_Mutation_p.I338M|PIP4K2C_uc010srt.1_Missense_Mutation_p.I308M	55	GBM-06-0238-TP	p.I356M	C	TCTATGCCATCCGGAGTGCTG	NM_001146258	NP_001139730	57994848	Q8TBX8	PI42C_HUMAN	0			8	1199	+	G	G	Melanoma(17;0.122)		Missense_Mutation	356			PIPK.			
PIP4K2C	79837	broad.mit.edu	GRCh37	12	57988971	57988971	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01	TCGA-06-2567-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354947.5:c.335G>A	p.Arg112His	p.R112H	ENST00000354947		112	cGt/cAt	0			1			A	R/H	uc001sou.2	protein_coding	YES	CCDS8946.1			335/1266									central_nervous_system(2)|lung(1)	3	c.(334-336)CGT>CAT			PROSITE_profiles:PS51455,hmmpanther:PTHR23086,hmmpanther:PTHR23086:SF35,Gene3D:2gk9B01,SMART_domains:SM00330,Superfamily_domains:SSF56104	phosphatidylinositol-5-phosphate 4-kinase, type				ENSP00000347032		10-Mar									COSM2153073	10-Mar	.		ENST00000354947	Transcript				cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	ENSG00000166908	g.chr12:57988971G>A	23786			MODERATE		4.02	high	getma.org/?cm=msa&ty=f&p=PI42C_HUMAN&rb=43&re=420&var=R112H	getma.org/pdb.php?prot=PI42C_HUMAN&from=43&to=420&var=R112H	getma.org/?cm=var&var=hg19,12,57988971,G,A&fts=all	R112H	--	--	1																																		PIP4K2C_uc001sot.2_Missense_Mutation_p.R112H|PIP4K2C_uc010srs.1_Missense_Mutation_p.R94H|PIP4K2C_uc010srt.1_Missense_Mutation_p.R112H	1	1		benign(0.273)	p.R112H	NM_001146258	NP_001139730		deleterious(0.03)	1	PI42C_HUMAN	PIP4K2C	HGNC	Q8TBX8	PI42C_HUMAN			F8VU68_HUMAN		3	466	+	Melanoma(17;0.122)		UPI000003F553	112			PIPK.		SNV	PIP4K2C,missense_variant,p.Arg112His,ENST00000354947,;PIP4K2C,missense_variant,p.Arg112His,ENST00000540759,NM_001146259.1,NM_001146258.1,NM_024779.4;PIP4K2C,missense_variant,p.Arg112His,ENST00000422156,NM_001146260.1;PIP4K2C,missense_variant,p.Arg94His,ENST00000550465,;PIP4K2C,missense_variant,p.Arg91His,ENST00000551772,;PIP4K2C,upstream_gene_variant,,ENST00000548264,;PIP4K2C,missense_variant,p.Arg112His,ENST00000550095,;PIP4K2C,3_prime_UTR_variant,,ENST00000550360,;	uc001sou.2	c.335G>A	351/2924	1	1			c.335G>A						12	SNP	c.(334-336)CGT>CAT	55	55			central_nervous_system(2)|lung(1)	3	Broad	phosphatidylinositol-5-phosphate 4-kinase, type			57988971		0.438	ENSG00000166908	11741	g.chr12:57988971G>A		cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			258			258	369.080253	KEEP	58	91	-1	139	143	58	91	-1	376.729675	139	143	0.346049	1	0	0	0	0	1	0	0	0	--	--		0	A			PIP4K2C_uc001sot.2_Missense_Mutation_p.R112H|PIP4K2C_uc010srs.1_Missense_Mutation_p.R94H|PIP4K2C_uc010srt.1_Missense_Mutation_p.R112H	89	GBM-06-2567-TP	p.R112H	G	AGGAACCTCCGTGATCGATTT	NM_001146258	NP_001139730	57988971	Q8TBX8	PI42C_HUMAN	0			3	466	+	A	A	Melanoma(17;0.122)		Missense_Mutation	112			PIPK.			
PIP5K1B	8395	broad.mit.edu	GRCh37	9	71555697	71555697	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0132-01	TCGA-06-0132-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265382.3:c.1493A>C	p.Tyr498Ser	p.Y498S	ENST00000265382	NM_003558.3	498	tAt/tCt	0			1			C	Y/S	uc004agu.2	protein_coding	YES	CCDS6624.1			1493/1623									stomach(1)	1	c.(1492-1494)TAT>TCT				phosphatidylinositol-4-phosphate 5-kinase, type				ENSP00000265382		14/16									COSM3413695	14/16	.		ENST00000265382	Transcript				endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	ENSG00000107242	g.chr9:71555697A>C	8995			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=PI51B_HUMAN&rb=396&re=540&var=Y498S	NA	getma.org/?cm=var&var=hg19,9,71555697,A,C&fts=all	Y498S	--	--	1																																		PIP5K1B_uc011lrq.1_Missense_Mutation_p.Y498S|PIP5K1B_uc004agv.2_RNA	1	1		benign(0.007)	p.Y498S	NM_003558	NP_003549		tolerated_low_confidence(0.33)	1	PI51B_HUMAN	PIP5K1B	HGNC	O14986	PI51B_HUMAN		Lung(182;0.133)	Q7KYT6_HUMAN,Q7KYT4_HUMAN,B4DIG7_HUMAN		14	1798	+			UPI000002E327	498					SNV	PIP5K1B,missense_variant,p.Tyr498Ser,ENST00000265382,NM_003558.3;PIP5K1B,missense_variant,p.Tyr498Ser,ENST00000541509,NM_001278253.1;RNU6-820P,upstream_gene_variant,,ENST00000384273,;PIP5K1B,missense_variant,p.Tyr538Ser,ENST00000478500,;	uc004agu.2	c.1493A>C	1798/2654	3	3			c.1493A>C						9	SNP	c.(1492-1494)TAT>TCT	13	13			stomach(1)	1	Broad	phosphatidylinositol-4-phosphate 5-kinase, type			71555697		0.443	ENSG00000107242	11743	g.chr9:71555697A>C		endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			223			223	58.172829	KEEP	18	16	-1	112	107	18	16	-1	84.132411	112	107	0.137255	1	0	0	0	0	1	0	0	0	--	--		0	C			PIP5K1B_uc011lrq.1_Missense_Mutation_p.Y498S|PIP5K1B_uc004agv.2_RNA	17	GBM-06-0132-TP	p.Y498S	A	CCTACACTCTATTCAAACAGG	NM_003558	NP_003549	71555697	O14986	PI51B_HUMAN	0		Lung(182;0.133)	14	1798	+	C	C			Missense_Mutation	498						
PIP5K1B	8395	broad.mit.edu	GRCh37	9	71606125	71606125	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2562-01	TCGA-06-2562-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265382.3:c.1572C>T	p.Asn524=	p.N524=	ENST00000265382	NM_003558.3	524	aaC/aaT	0			1			T	N	uc004agu.2	protein_coding	YES	CCDS6624.1			1572/1623									stomach(1)	1	c.(1570-1572)AAC>AAT				phosphatidylinositol-4-phosphate 5-kinase, type				ENSP00000265382		15/16									COSM2152782	15/16	.		ENST00000265382	Transcript				endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	ENSG00000107242	g.chr9:71606125C>T	8995			LOW								--	--	1																																		PIP5K1B_uc011lrq.1_Intron|PIP5K1B_uc004agv.2_RNA	1	1			p.N524N	NM_003558	NP_003549			1	PI51B_HUMAN	PIP5K1B	HGNC	O14986	PI51B_HUMAN		Lung(182;0.133)	Q7KYT6_HUMAN,Q7KYT4_HUMAN,B4DIG7_HUMAN		15	1877	+			UPI000002E327	524					SNV	PIP5K1B,synonymous_variant,p.=,ENST00000265382,NM_003558.3;PIP5K1B,intron_variant,,ENST00000541509,NM_001278253.1;PIP5K1B,3_prime_UTR_variant,,ENST00000478500,;	uc004agu.2	c.1572C>T	1877/2654	2	2			c.1572C>T						9	SNP	c.(1570-1572)AAC>AAT	43	43			stomach(1)	1	Broad	phosphatidylinositol-4-phosphate 5-kinase, type			71606125		0.428	ENSG00000107242	11743	g.chr9:71606125C>T		endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			223			223	182.448417	KEEP	39	35	-1	75	95	39	35	-1	190.170312	75	95	0.305677	1	0	0	0	0	0	0	1	0	--	--		0	T			PIP5K1B_uc011lrq.1_Intron|PIP5K1B_uc004agv.2_RNA	85	GBM-06-2562-TP	p.N524N	C	CTGAGCCCAACACTCTGGAAG	NM_003558	NP_003549	71606125	O14986	PI51B_HUMAN	0		Lung(182;0.133)	15	1877	+	T	T			Silent	524						
PIP5K1B	0	broad.mit.edu	GRCh37	9	71509330	71509330	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-4935-01	TCGA-76-4935-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265382.3:c.547A>G	p.Ile183Val	p.I183V	ENST00000265382	NM_003558.3	183	Atc/Gtc	0			1			G	I/V	uc004agu.2	protein_coding	YES	CCDS6624.1			547/1623									stomach(1)	1	c.(547-549)ATC>GTC			PROSITE_profiles:PS51455,hmmpanther:PTHR23086,hmmpanther:PTHR23086:SF34,Pfam_domain:PF01504,Gene3D:2gk9B01,SMART_domains:SM00330,Superfamily_domains:SSF56104	phosphatidylinositol-4-phosphate 5-kinase, type				ENSP00000265382		16-Aug									COSM3413694	16-Aug	.		ENST00000265382	Transcript				endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	ENSG00000107242	g.chr9:71509330A>G	8995			MODERATE		1.575	low	getma.org/?cm=msa&ty=f&p=PI51B_HUMAN&rb=107&re=395&var=I183V	getma.org/pdb.php?prot=PI51B_HUMAN&from=107&to=395&var=I183V	getma.org/?cm=var&var=hg19,9,71509330,A,G&fts=all	I183V	--	--	1																																		PIP5K1B_uc011lrq.1_Missense_Mutation_p.I183V|PIP5K1B_uc004agv.2_RNA	1	1		benign(0.156)	p.I183V	NM_003558	NP_003549		tolerated(0.16)	1	PI51B_HUMAN	PIP5K1B	HGNC	O14986	PI51B_HUMAN		Lung(182;0.133)	Q7KYT6_HUMAN,Q7KYT4_HUMAN,B4DIG7_HUMAN		8	852	+			UPI000002E327	183			PIPK.		SNV	PIP5K1B,missense_variant,p.Ile183Val,ENST00000265382,NM_003558.3;PIP5K1B,missense_variant,p.Ile183Val,ENST00000541509,NM_001278253.1;PIP5K1B,downstream_gene_variant,,ENST00000437200,;PIP5K1B,missense_variant,p.Ile223Val,ENST00000478500,;	uc004agu.2	c.547A>G	852/2654	3	3			c.547A>G						9	SNP	c.(547-549)ATC>GTC	64	64			stomach(1)	1	Broad	phosphatidylinositol-4-phosphate 5-kinase, type			71509330		0.373	ENSG00000107242	11743	g.chr9:71509330A>G		endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			223			223	295.496013	KEEP	36	49	-1	52	51	36	49	-1	295.774263	52	51	0.457143	1	0	0	0	0	1	0	0	0	--	--		0	G			PIP5K1B_uc011lrq.1_Missense_Mutation_p.I183V|PIP5K1B_uc004agv.2_RNA	273	GBM-76-4935-TP	p.I183V	A	AGGCATTAATATCAGGATTGT	NM_003558	NP_003549	71509330	O14986	PI51B_HUMAN	0		Lung(182;0.133)	8	852	+	G	G			Missense_Mutation	183			PIPK.			
PIP5KL1	138429		GRCh37	9	130689473	130689473	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000388747.4:c.609C>T	p.Val203=	p.V203=	ENST00000388747	NM_001135219.1	203	gtC/gtT	0																																																																																																																																																																																																																																												
PIPOX	0	broad.mit.edu	GRCh37	17	27380567	27380567	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-12-0615-01	TCGA-12-0615-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323372.4:c.614G>C	p.Trp205Ser	p.W205S	ENST00000323372	NM_016518.2	205	tGg/tCg	0			1			C	W/S	uc002hdr.1	protein_coding	YES	CCDS11248.1			614/1173										0	c.(613-615)TGG>TCG			hmmpanther:PTHR10961:SF7,hmmpanther:PTHR10961,Gene3D:3.50.50.60,Pfam_domain:PF01266,TIGRFAM_domain:TIGR01377,Superfamily_domains:SSF51905	pipecolic acid oxidase	Glycine(DB00145)			ENSP00000317721		8-Apr									COSM2153538	8-Apr	.		ENST00000323372	Transcript			tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity	ENSG00000179761	g.chr17:27380567G>C	17804			MODERATE		3.155	medium	getma.org/?cm=msa&ty=f&p=SOX_HUMAN&rb=9&re=364&var=W205S	getma.org/pdb.php?prot=SOX_HUMAN&from=9&to=364&var=W205S	getma.org/?cm=var&var=hg19,17,27380567,G,C&fts=all	W205S	--	--	1																																			1	1		probably_damaging(1)	p.W205S	NM_016518	NP_057602		deleterious(0)	1	SOX_HUMAN	PIPOX	HGNC	Q9P0Z9	SOX_HUMAN	Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		K7EK30_HUMAN,K7EJU8_HUMAN		4	940	+	Lung NSC(42;0.015)		UPI00001410B0	205					SNV	PIPOX,missense_variant,p.Trp205Ser,ENST00000323372,NM_016518.2;PIPOX,missense_variant,p.Trp139Ser,ENST00000469082,;PIPOX,missense_variant,p.Trp139Ser,ENST00000466889,;PIPOX,non_coding_transcript_exon_variant,,ENST00000583215,;PIPOX,non_coding_transcript_exon_variant,,ENST00000580241,;PIPOX,non_coding_transcript_exon_variant,,ENST00000484308,;PIPOX,non_coding_transcript_exon_variant,,ENST00000419875,;PIPOX,downstream_gene_variant,,ENST00000577182,;PIPOX,downstream_gene_variant,,ENST00000580383,;	uc002hdr.1	c.614G>C	940/2410	3	3			c.614G>C						17	SNP	c.(613-615)TGG>TCG	4	4				0	Broad	pipecolic acid oxidase		Glycine(DB00145)	27380567		0.517	ENSG00000179761	11746	g.chr17:27380567G>C	tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity							220.93734	KEEP	39	48	-1	68	73	39	48	-1	223.89039	68	73	0.371287	1	0	0	0	0	1	0	0	0	--	--		0	C				117	GBM-12-0615-TP	p.W205S	G	GCAGGTCCTTGGACCAACCAG	NM_016518	NP_057602	27380567	Q9P0Z9	SOX_HUMAN	0	Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		4	940	+	C	C	Lung NSC(42;0.015)		Missense_Mutation	205						
PIPSL	266971		GRCh37	10	95720191	95720191	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	C			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000480546.1:n.1107T>G		p.*369*	ENST00000480546				0																																																																																																																																																																																																																																												
PIR	8544	broad.mit.edu	GRCh37	X	15509315	15509315	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2558-01	TCGA-06-2558-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380421.3:c.66G>A	p.Ala22=	p.A22=	ENST00000380421	NM_001018109.2	22	gcG/gcA	0	T:0.0003		1			T	A	uc004cwu.2	protein_coding		CCDS14167.1			66/873									ovary(1)	1	c.(64-66)GCG>GCA			hmmpanther:PTHR13903:SF8,hmmpanther:PTHR13903,Pfam_domain:PF02678,Gene3D:2.60.120.10,PIRSF_domain:PIRSF006232,Superfamily_domains:SSF51182	pirin			T:0	ENSP00000369785		10-Feb	8.24E-06		0.000108						rs370522973,COSM1315382	10-Feb	.		ENST00000380420	Transcript			transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity	ENSG00000087842	g.chrX:15509315C>T	30048			LOW								--	--	1																																		PIR_uc004cwv.2_Silent_p.A22A|BMX_uc004cww.2_Intron	0,1				p.A22A	NM_003662	NP_003653			0,1	PIR_HUMAN	PIR	HGNC	O00625	PIR_HUMAN					2	304	-	Hepatocellular(33;0.183)		UPI0000049C30	22					SNV	PIR,synonymous_variant,p.=,ENST00000380421,NM_001018109.2,NM_003662.3;PIR,synonymous_variant,p.=,ENST00000380420,;BMX,intron_variant,,ENST00000357607,;PIR,non_coding_transcript_exon_variant,,ENST00000476381,;PIR,non_coding_transcript_exon_variant,,ENST00000471725,;	uc004cwu.2	c.66G>A	270/1282	2	2			c.66G>A						23	SNP	c.(64-66)GCG>GCA	32	32			ovary(1)	1	Broad	pirin			15509315		0.522	ENSG00000087842	11747	g.chrX:15509315C>T	transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity	Ovarian(180;1587 2015 10555 34192 51653)			Ovarian(180;1587 2015 10555 34192 51653)			399.693823	KEEP	71	95	-1	137	161	71	95	-1	406.130504	137	161	0.360743	1	0	0	0	0	0	0	1	0	--	--		0	T			PIR_uc004cwv.2_Silent_p.A22A|BMX_uc004cww.2_Intron	82	GBM-06-2558-TP	p.A22A	C	TCCGGACCCTCGCTCCAACCC	NM_003662	NP_003653	15509315	O00625	PIR_HUMAN	0			2	304	-	T	T	Hepatocellular(33;0.183)		Silent	22						
PIRT	644139	broad.mit.edu	GRCh37	17	10728581	10728581	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs150727776	by1000genomes	TCGA-06-0190-01	TCGA-06-0190-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000580256.2:c.382C>T	p.Arg128Cys	p.R128C	ENST00000580256	NM_001101387.1	128	Cgc/Tgc	0	A:0.0107	A:0.0113	1	A:0		A	R/C	uc010col.2	protein_coding	YES	CCDS45614.1			382/414									ovary(1)	1	c.(382-384)CGC>TGC			Pfam_domain:PF15099,hmmpanther:PTHR16100,hmmpanther:PTHR16100:SF4	phosphoinositide-interacting regulator of		A:0	A:0	ENSP00000462046	A:0	2-Feb	0.00145	0.0142	0.00165	0.000232		0.000105	0.00224	0.000364	rs150727776,COSM3402599	2-Feb	common_variant		ENST00000580256	Transcript		A:0.0030		integral to membrane		ENSG00000233670	g.chr17:10728581G>A	37239			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=PIRT_HUMAN&rb=60&re=135&var=R128C	NA	getma.org/?cm=var&var=hg19,17,10728581,G,A&fts=all	R128C	--	--	1																																			0,1	1		benign(0.032)	p.R128C	NM_001101387	NP_001094857	A:0	deleterious(0)	0,1	PIRT_HUMAN	PIRT	HGNC	P0C851	PIRT_HUMAN					2	677	-			UPI00006C1760	128					SNV	PIRT,missense_variant,p.Arg128Cys,ENST00000580256,NM_001101387.1;	uc010col.2	c.382C>T	1021/3810	2	2			c.382C>T						17	SNP	c.(382-384)CGC>TGC	20	20			ovary(1)	1	Broad	phosphoinositide-interacting regulator of			10728581		0.532	ENSG00000233670	11748	g.chr17:10728581G>A		integral to membrane								19.652144	KEEP	5	7	-1	32	27	5	7	-1	26.164273	32	27	0.179104	1	0	0	0	0	1	0	0	0	--	--		0	A				43	GBM-06-0190-TP	p.R128C	G	TTGAGGCTGCGTAAGAAATTC	NM_001101387	NP_001094857	10728581	P0C851	PIRT_HUMAN	0			2	677	-	A	A			Missense_Mutation	128						
PISD	0	broad.mit.edu	GRCh37	22	32017352	32017352	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2625-01	TCGA-19-2625-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000439502.2:c.665G>A	p.Arg222His	p.R222H	ENST00000439502		222	cGt/cAt	0	A:0.0002		1			T	R/H	uc003alm.3	protein_coding					665/1230									central_nervous_system(2)|ovary(1)	3	c.(664-666)CGT>CAT			hmmpanther:PTHR10067,TIGRFAM_domain:TIGR00163,Pfam_domain:PF02666	phosphatidylserine decarboxylase	Phosphatidylserine(DB00144)		A:0.0005	ENSP00000391739		8-May	8.24E-06					1.50E-05			rs199747774,COSM2938306,COSM2938307	8-May	.		ENST00000439502	Transcript			phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity	ENSG00000241878	g.chr22:32017352C>T	8999			MODERATE		-0.125	neutral	getma.org/?cm=msa&ty=f&p=PISD_HUMAN&rb=165&re=408&var=R222H	NA	getma.org/?cm=var&var=hg19,22,32017352,C,T&fts=all	R222H	--	--	1																																OREG0003530	type=REGULATORY REGION|Gene=PISD|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	PISD_uc003alk.2_Missense_Mutation_p.R188H|PISD_uc003all.2_Missense_Mutation_p.R187H|PISD_uc011alr.1_Missense_Mutation_p.R187H|PISD_uc003aln.3_Missense_Mutation_p.R222H	0,1,1			benign(0.013)	p.R222H	NM_014338	NP_055153		tolerated(0.23)	0,1,1	PISD_HUMAN	PISD	HGNC	Q9UG56	PISD_HUMAN					5	672	-			UPI0000207594	222					SNV	PISD,missense_variant,p.Arg188His,ENST00000382151,;PISD,missense_variant,p.Arg188His,ENST00000266095,NM_014338.3;PISD,missense_variant,p.Arg188His,ENST00000397500,;PISD,missense_variant,p.Arg222His,ENST00000439502,;PISD,missense_variant,p.Arg221His,ENST00000336566,;PISD,missense_variant,p.Arg213His,ENST00000435900,;PISD,missense_variant,p.Arg188His,ENST00000422020,;SFI1,downstream_gene_variant,,ENST00000432498,NM_014775.3;SFI1,downstream_gene_variant,,ENST00000540643,NM_001258325.1;SFI1,downstream_gene_variant,,ENST00000443326,NM_001258326.1,NM_001258327.1;SFI1,downstream_gene_variant,,ENST00000400288,NM_001007467.2;SFI1,downstream_gene_variant,,ENST00000414585,;SFI1,downstream_gene_variant,,ENST00000400289,;SFI1,downstream_gene_variant,,ENST00000443011,;PISD,downstream_gene_variant,,ENST00000442379,;PISD,downstream_gene_variant,,ENST00000429683,;PISD,downstream_gene_variant,,ENST00000431201,;PISD,non_coding_transcript_exon_variant,,ENST00000478893,;PISD,non_coding_transcript_exon_variant,,ENST00000491342,;PISD,downstream_gene_variant,,ENST00000486675,;SFI1,downstream_gene_variant,,ENST00000474741,;PISD,downstream_gene_variant,,ENST00000479851,;PISD,3_prime_UTR_variant,,ENST00000437808,;PISD,non_coding_transcript_exon_variant,,ENST00000460723,;PISD,non_coding_transcript_exon_variant,,ENST00000473770,;PISD,non_coding_transcript_exon_variant,,ENST00000474017,;SFI1,downstream_gene_variant,,ENST00000382162,;SFI1,downstream_gene_variant,,ENST00000464333,;SFI1,downstream_gene_variant,,ENST00000452250,;SFI1,downstream_gene_variant,,ENST00000476577,;SFI1,downstream_gene_variant,,ENST00000357852,;	uc003alm.3	c.665G>A	889/1963	1	1			c.665G>A						22	SNP	c.(664-666)CGT>CAT	3	3			central_nervous_system(2)|ovary(1)	3	Broad	phosphatidylserine decarboxylase		Phosphatidylserine(DB00144)	32017352		0.627	ENSG00000241878	11749	g.chr22:32017352C>T	phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity							144.176017	KEEP	22	28	-1	44	37	22	28	-1	145.305369	44	37	0.396694	1	0	0	0	0	1	0	0	0	--	--		0	T	OREG0003530	type=REGULATORY REGION|Gene=PISD|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	PISD_uc003alk.2_Missense_Mutation_p.R188H|PISD_uc003all.2_Missense_Mutation_p.R187H|PISD_uc011alr.1_Missense_Mutation_p.R187H|PISD_uc003aln.3_Missense_Mutation_p.R222H	165	GBM-19-2625-TP	p.R222H	C	TGTGCACATACGCGGGCCCAG	NM_014338	NP_055153	32017352	Q9UG56	PISD_HUMAN	0			5	672	-	T	T			Missense_Mutation	222						
PITPNA	5306	broad.mit.edu	GRCh37	17	1456417	1456417	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0214-01	TCGA-06-0214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313486.7:c.78G>A	p.Val26=	p.V26=	ENST00000313486	NM_006224.3	26	gtG/gtA	0			1			T	V	uc002fst.3	protein_coding	YES	CCDS45563.1			78/813									ovary(1)	1	c.(76-78)GTG>GTA			Gene3D:3.30.530.20,Pfam_domain:PF02121,Prints_domain:PR00391,hmmpanther:PTHR10658,Superfamily_domains:SSF55961	phosphatidylinositol transfer protein, alpha				ENSP00000316809		12-Mar									COSM3402621	12-Mar	.		ENST00000313486	Transcript			axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding	ENSG00000174238	g.chr17:1456417C>T	9001			LOW								--	--	1																																		PITPNA_uc010cjt.2_5'UTR|PITPNA_uc010cju.2_5'UTR|PITPNA_uc010vqn.1_RNA	1	1			p.V26V	NM_006224	NP_006215			1	PIPNA_HUMAN	PITPNA	HGNC	Q00169	PIPNA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)	I3NI10_HUMAN,I3L4C0_HUMAN,I3L459_HUMAN,I3L3W1_HUMAN,I3L2X8_HUMAN,B4E1U1_HUMAN		3	334	-			UPI000000DAD0	26					SNV	PITPNA,synonymous_variant,p.=,ENST00000313486,NM_006224.3;PITPNA,synonymous_variant,p.=,ENST00000539476,;PITPNA,synonymous_variant,p.=,ENST00000573056,;PITPNA,5_prime_UTR_variant,,ENST00000576722,;PITPNA,5_prime_UTR_variant,,ENST00000575895,;PITPNA,5_prime_UTR_variant,,ENST00000576761,;PITPNA,5_prime_UTR_variant,,ENST00000576010,;PITPNA,5_prime_UTR_variant,,ENST00000573231,;PITPNA,upstream_gene_variant,,ENST00000574991,;PITPNA,synonymous_variant,p.=,ENST00000575288,;	uc002fst.3	c.78G>A	334/3912	1	1			c.78G>A						17	SNP	c.(76-78)GTG>GTA	7	7			ovary(1)	1	Broad	phosphatidylinositol transfer protein, alpha			1456417		0.512	ENSG00000174238	11750	g.chr17:1456417C>T	axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding							44.808667	KEEP	6	19	-1	50	58	6	19	-1	53.603714	50	58	0.2	1	0	0	0	0	0	0	1	0	--	--		0	T			PITPNA_uc010cjt.2_5'UTR|PITPNA_uc010cju.2_5'UTR|PITPNA_uc010vqn.1_RNA	50	GBM-06-0214-TP	p.V26V	C	TGGCCTCAGCCACAGAATACA	NM_006224	NP_006215	1456417	Q00169	PIPNA_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)	3	334	-	T	T			Silent	26						
PITPNB	0	broad.mit.edu	GRCh37	22	28310333	28310333	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01	TCGA-27-2526-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335272.5:c.23G>A	p.Arg8His	p.R8H	ENST00000335272	NM_012399.3	8	cGt/cAt	0			1			T	R/H	uc003adk.2	protein_coding	YES	CCDS13842.1			23/816									skin(1)	1	c.(22-24)CGT>CAT			hmmpanther:PTHR10658,Pfam_domain:PF02121,Gene3D:3.30.530.20,Superfamily_domains:SSF55961	phosphatidylinositol transfer protein, beta				ENSP00000334738		12-Feb	8.24E-06					1.90E-05			rs777406432,COSM3405570,COSM3405569,COSM3405571	12-Feb	.		ENST00000335272	Transcript			lipid metabolic process|transport	Golgi apparatus	lipid binding	ENSG00000180957	g.chr22:28310333C>T	9002			MODERATE		2.695	medium	getma.org/?cm=msa&ty=f&p=PIPNB_HUMAN&rb=2&re=254&var=R8H	getma.org/pdb.php?prot=PIPNB_HUMAN&from=2&to=254&var=R8H	getma.org/?cm=var&var=hg19,22,28310333,C,T&fts=all	R8H	--	--	1																																		PITPNB_uc011akh.1_Missense_Mutation_p.R10H|PITPNB_uc003adl.2_Missense_Mutation_p.R8H	0,1,1,1	1		benign(0.268)	p.R8H	NM_012399	NP_036531		tolerated(0.06)	0,1,1,1	PIPNB_HUMAN	PITPNB	HGNC	P48739	PIPNB_HUMAN			B3KYB6_HUMAN		2	99	-			UPI0000043C3A	8					SNV	PITPNB,missense_variant,p.Arg8His,ENST00000335272,NM_012399.3;PITPNB,missense_variant,p.Arg10His,ENST00000455418,NM_001284278.1;PITPNB,missense_variant,p.Arg8His,ENST00000320996,NM_001284277.1;PITPNB,missense_variant,p.Arg10His,ENST00000436663,;PITPNB,splice_region_variant,,ENST00000415296,;PITPNB,splice_region_variant,,ENST00000471825,;PITPNB,splice_region_variant,,ENST00000460566,;	uc003adk.2	c.23G>A	100/2926	1	1			c.23G>A						22	SNP	c.(22-24)CGT>CAT	5	5			skin(1)	1	Broad	phosphatidylinositol transfer protein, beta			28310333		0.318	ENSG00000180957	11751	g.chr22:28310333C>T	lipid metabolic process|transport	Golgi apparatus	lipid binding							2.969934	KEEP	3	1	-1	18	21	3	1	-1	9.363486	18	21	0.1	1	0	0	0	0	1	0	0	0	--	--		0	T			PITPNB_uc011akh.1_Missense_Mutation_p.R10H|PITPNB_uc003adl.2_Missense_Mutation_p.R8H	203	GBM-27-2526-TP	p.R8H	C	CAAAACCACACGGCTAAAAAG	NM_012399	NP_036531	28310333	P48739	PIPNB_HUMAN	0			2	99	-	T	T			Missense_Mutation	8						
PITPNC1	26207	broad.mit.edu	GRCh37	17	65528973	65528973	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0879-01	TCGA-06-0879-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000581322.1:c.104G>A	p.Arg35Gln	p.R35Q	ENST00000581322		35	cGg/cAg	0			1			A	R/Q	uc002jgc.2	protein_coding	YES	CCDS58588.1			104/999									skin(1)	1	c.(103-105)CGG>CAG			hmmpanther:PTHR10658,Pfam_domain:PF02121,Gene3D:3.30.530.20,Superfamily_domains:SSF55961,Prints_domain:PR00391	phosphatidylinositol transfer protein,				ENSP00000464006		9-Feb	8.28E-06					3.85E-05			rs755116394,COSM3403136,COSM3403135,COSM3403137	9-Feb	.		ENST00000581322	Transcript			signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	ENSG00000154217	g.chr17:65528973G>A	21045			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=PITC1_HUMAN&rb=1&re=245&var=R35Q	getma.org/pdb.php?prot=PITC1_HUMAN&from=1&to=245&var=R35Q	getma.org/?cm=var&var=hg19,17,65528973,G,A&fts=all	R35Q	--	--	1																																		PITPNC1_uc002jgb.2_Missense_Mutation_p.R35Q	0,1,1,1	1		benign(0.04)	p.R35Q	NM_012417	NP_036549		tolerated(0.2)	0,1,1,1		PITPNC1	HGNC	Q9UKF7	PITC1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)		J3QS95_HUMAN,J3QRS7_HUMAN,J3QR20_HUMAN		2	451	+	all_cancers(12;3.03e-10)		UPI00001AE46B	35					SNV	PITPNC1,missense_variant,p.Arg35Gln,ENST00000580974,NM_012417.3,NM_181671.2;PITPNC1,missense_variant,p.Arg35Gln,ENST00000299954,;PITPNC1,missense_variant,p.Arg35Gln,ENST00000335257,;PITPNC1,missense_variant,p.Arg35Gln,ENST00000581322,;PITPNC1,missense_variant,p.Arg12Gln,ENST00000584554,;PITPNC1,missense_variant,p.Arg12Gln,ENST00000584471,;PITPNC1,upstream_gene_variant,,ENST00000581923,;	uc002jgc.2	c.104G>A	104/1124	2	2			c.104G>A						17	SNP	c.(103-105)CGG>CAG	21	21			skin(1)	1	Broad	phosphatidylinositol transfer protein,			65528973		0.532	ENSG00000154217	11752	g.chr17:65528973G>A	signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding							20.785127	KEEP	3	5	-1	14	14	3	5	-1	22.962121	14	14	0.235294	1	0	0	0	0	1	0	0	0	--	--		0	A			PITPNC1_uc002jgb.2_Missense_Mutation_p.R35Q	75	GBM-06-0879-TP	p.R35Q	G	CAGAGTGACCGGGGAGAAGGG	NM_012417	NP_036549	65528973	Q9UKF7	PITC1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)		2	451	+	A	A	all_cancers(12;3.03e-10)		Missense_Mutation	35						
PITPNM2	0	broad.mit.edu	GRCh37	12	123481392	123481393	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C			TCGA-16-1045-01	TCGA-16-1045-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320201.4:c.1537dupG	p.Ala513GlyfsTer57	p.A513Gfs*57	ENST00000320201	NM_020845.2	513	gcc/gGcc	0			1			C	A/GX	uc001uej.1	protein_coding	YES	CCDS9242.1			1537-1538/4050									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(1537-1539)GCCfs			hmmpanther:PTHR10658,hmmpanther:PTHR10658:SF41,Low_complexity_(Seg):seg	phosphatidylinositol transfer protein,				ENSP00000322218		25-Nov										25-Nov	.		ENST00000320201	Transcript			metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	ENSG00000090975	g.chr12:123481392_123481393insC	21044			HIGH								--	--	1																																		PITPNM2_uc001uek.1_Frame_Shift_Ins_p.A513fs		1			p.A513fs	NM_020845	NP_065896				PITM2_HUMAN	PITPNM2	HGNC	Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	Q9UF51_HUMAN,F5H664_HUMAN		11	1676_1677	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		UPI0000070D27	513					insertion	PITPNM2,frameshift_variant,p.Ala513GlyfsTer57,ENST00000280562,;PITPNM2,frameshift_variant,p.Ala513GlyfsTer57,ENST00000320201,NM_020845.2;PITPNM2,frameshift_variant,p.Ala513GlyfsTer57,ENST00000542749,;PITPNM2,frameshift_variant,p.Ala234GlyfsTer57,ENST00000392428,;PITPNM2,downstream_gene_variant,,ENST00000546049,;PITPNM2,downstream_gene_variant,,ENST00000451868,;PITPNM2,downstream_gene_variant,,ENST00000436074,;	uc001uej.1	c.1537_1538insG	1676-1677/6736	5	5			c.1537_1538insG						12	INS	c.(1537-1539)GCCfs	17	17			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	phosphatidylinositol transfer protein,			123481393		0.639	ENSG00000090975	11754	g.chr12:123481392_123481393insC	metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding																				0.06	1	0	0	1	1	0	0	0	0	--	--		0	C			PITPNM2_uc001uek.1_Frame_Shift_Ins_p.A513fs	157	GBM-16-1045-TP	p.A513fs	-	CAGGGGGAGGGCAGCCAGGGGA	NM_020845	NP_065896	123481392	Q9BZ72	PITM2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	11	1676_1677	-	C	C	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Frame_Shift_Ins	513						
PITPNM2	0	broad.mit.edu	GRCh37	12	123473301	123473301	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-19-4068-01	TCGA-19-4068-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320201.4:c.2850A>G	p.Ser950=	p.S950=	ENST00000320201	NM_020845.2	950	tcA/tcG	0			1			C	S	uc001uej.1	protein_coding	YES	CCDS9242.1			2850/4050									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(2848-2850)TCA>TCG			Pfam_domain:PF02862,hmmpanther:PTHR10658,hmmpanther:PTHR10658:SF41,PROSITE_profiles:PS51043	phosphatidylinositol transfer protein,				ENSP00000322218		18/25									COSM3398479,COSM3398480	18/25	.		ENST00000320201	Transcript			metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	ENSG00000090975	g.chr12:123473301T>C	21044			LOW								--	--	1																																		PITPNM2_uc001uek.1_Silent_p.S944S	1,1	1			p.S950S	NM_020845	NP_065896			1,1	PITM2_HUMAN	PITPNM2	HGNC	Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	Q9UF51_HUMAN,F5H664_HUMAN		18	2989	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		UPI0000070D27	950			DDHD.		SNV	PITPNM2,synonymous_variant,p.=,ENST00000280562,;PITPNM2,synonymous_variant,p.=,ENST00000320201,NM_020845.2;PITPNM2,synonymous_variant,p.=,ENST00000542749,;PITPNM2,synonymous_variant,p.=,ENST00000392428,;	uc001uej.1	c.2850A>G	2989/6736	3	3			c.2850A>G						12	SNP	c.(2848-2850)TCA>TCG	64	64			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	phosphatidylinositol transfer protein,			123473301		0.632	ENSG00000090975	11754	g.chr12:123473301T>C	metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding							6.644648	KEEP	0	2	-1	1	7	0	2	-1	7.481236	1	7	0.2	1	0	0	0	0	0	0	1	0	--	--		0	C			PITPNM2_uc001uek.1_Silent_p.S944S	168	GBM-19-4068-TP	p.S950S	T	CCACGTCTGTTGACTCCCAGT	NM_020845	NP_065896	123473301	Q9BZ72	PITM2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	18	2989	-	C	C	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Silent	950			DDHD.			
PITPNM3	83394		GRCh37	17	6376097	6376097	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000262483.8:c.1309G>A	p.Ala437Thr	p.A437T	ENST00000262483	NM_031220.3	437	Gca/Aca	0																																																																																																																																																																																																																																												
PITX2	5308	broad.mit.edu	GRCh37	4	111539460	111539460	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-5412-01	TCGA-06-5412-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306732.3:c.796A>G	p.Thr266Ala	p.T266A	ENST00000306732	NM_000325.5	266	Acg/Gcg	0			1			C	T/A	uc003iad.2	protein_coding		CCDS3692.1			775/954										0	c.(775-777)ACG>GCG			Low_complexity_(Seg):seg,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF287,PIRSF_domain:PIRSF000563	paired-like homeodomain transcription factor 2				ENSP00000347004		7-Jul									COSM3408996,COSM3408997	7-Jul	.		ENST00000354925	Transcript	1		determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding	ENSG00000164093	g.chr4:111539460T>C	9005			MODERATE		-0.55	neutral	getma.org/?cm=msa&ty=f&p=PITX2_HUMAN&rb=143&re=273&var=T259A	NA	getma.org/?cm=var&var=hg19,4,111539460,T,C&fts=all	T259A	--	--	1																																		PITX2_uc003iac.2_Missense_Mutation_p.T266A|PITX2_uc003iae.2_Missense_Mutation_p.T213A|PITX2_uc010iml.2_Missense_Mutation_p.T130A|PITX2_uc003iaf.2_Missense_Mutation_p.T259A	1,1			benign(0.004)	p.T259A	NM_153426	NP_700475		tolerated(0.46)	1,1	PITX2_HUMAN	PITX2	HGNC	Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	D6RFI4_HUMAN		5	1357	-		Hepatocellular(203;0.217)	UPI0000131B4D	259					SNV	PITX2,missense_variant,p.Thr259Ala,ENST00000354925,NM_001204397.1;PITX2,missense_variant,p.Thr266Ala,ENST00000306732,NM_000325.5;PITX2,missense_variant,p.Thr213Ala,ENST00000355080,NM_153427.2,NM_001204399.1;PITX2,missense_variant,p.Thr259Ala,ENST00000394598,NM_153426.2;PITX2,missense_variant,p.Thr259Ala,ENST00000511837,NM_001204398.1;PITX2,3_prime_UTR_variant,,ENST00000394595,;PITX2,downstream_gene_variant,,ENST00000557119,;PITX2,downstream_gene_variant,,ENST00000511990,;RP11-380D23.2,upstream_gene_variant,,ENST00000503456,;RP11-380D23.2,upstream_gene_variant,,ENST00000513690,;PITX2,downstream_gene_variant,,ENST00000556049,;PITX2,non_coding_transcript_exon_variant,,ENST00000607868,;	uc003iad.2	c.775A>G	2481/3359	4	4			c.775A>G						4	SNP	c.(775-777)ACG>GCG	43	43				0	Broad	paired-like homeodomain transcription factor 2			111539460		0.592	ENSG00000164093	11758	g.chr4:111539460T>C	determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding							22.868605	KEEP	8	6	-1	30	46	8	6	-1	32.475799	30	46	0.148148	1	0	0	0	0	1	0	0	0	--	--		0	C			PITX2_uc003iac.2_Missense_Mutation_p.T266A|PITX2_uc003iae.2_Missense_Mutation_p.T213A|PITX2_uc010iml.2_Missense_Mutation_p.T130A|PITX2_uc003iaf.2_Missense_Mutation_p.T259A	95	GBM-06-5412-TP	p.T259A	T	CAGGCAGGCGTCGGCACCGCG	NM_153426	NP_700475	111539460	Q99697	PITX2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	5	1357	-	C	C		Hepatocellular(203;0.217)	Missense_Mutation	259						
PITX2	0	broad.mit.edu	GRCh37	4	111539315	111539315	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01	TCGA-16-0861-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354925.2:c.920G>A	p.Ser307Asn	p.S307N	ENST00000354925	NM_001204397.1	307	aGt/aAt	0		T:0	1	T:0.0014		T	S/N	uc003iad.2	protein_coding		CCDS3692.1			920/954										0	c.(919-921)AGT>AAT			hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF287,PIRSF_domain:PIRSF000563	paired-like homeodomain transcription factor 2		T:0		ENSP00000347004	T:0	7-Jul	8.24E-06		8.66E-05						rs571758306,COSM3408994,COSM3408995	7-Jul	.		ENST00000354925	Transcript	1	T:0.0002	determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding	ENSG00000164093	g.chr4:111539315C>T	9005			MODERATE		1.89	low	getma.org/?cm=msa&ty=f&p=PITX2_HUMAN&rb=265&re=317&var=S307N	NA	getma.org/?cm=var&var=hg19,4,111539315,C,T&fts=all	S307N	--	--	1																																		PITX2_uc003iac.2_Missense_Mutation_p.S314N|PITX2_uc003iae.2_Missense_Mutation_p.S261N|PITX2_uc010iml.2_Missense_Mutation_p.S178N|PITX2_uc003iaf.2_Missense_Mutation_p.S307N	0,1,1			benign(0.05)	p.S307N	NM_153426	NP_700475	T:0	tolerated(0.38)	0,1,1	PITX2_HUMAN	PITX2	HGNC	Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	D6RFI4_HUMAN		5	1502	-		Hepatocellular(203;0.217)	UPI0000131B4D	307					SNV	PITX2,missense_variant,p.Ser307Asn,ENST00000354925,NM_001204397.1;PITX2,missense_variant,p.Ser314Asn,ENST00000306732,NM_000325.5;PITX2,missense_variant,p.Ser261Asn,ENST00000355080,NM_153427.2,NM_001204399.1;PITX2,missense_variant,p.Ser307Asn,ENST00000394598,NM_153426.2;PITX2,3_prime_UTR_variant,,ENST00000394595,;PITX2,downstream_gene_variant,,ENST00000557119,;PITX2,downstream_gene_variant,,ENST00000511837,NM_001204398.1;PITX2,downstream_gene_variant,,ENST00000511990,;RP11-380D23.2,upstream_gene_variant,,ENST00000503456,;RP11-380D23.2,upstream_gene_variant,,ENST00000513690,;PITX2,downstream_gene_variant,,ENST00000556049,;PITX2,non_coding_transcript_exon_variant,,ENST00000607868,;	uc003iad.2	c.920G>A	2626/3359	2	2			c.920G>A						4	SNP	c.(919-921)AGT>AAT	26	26				0	Broad	paired-like homeodomain transcription factor 2			111539315		0.632	ENSG00000164093	11758	g.chr4:111539315C>T	determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding							-9.901922	KEEP	1	3	-1	64	35	1	3	-1	8.05542	64	35	0.048193	1	0	0	0	0	1	0	0	0	--	--		0	T			PITX2_uc003iac.2_Missense_Mutation_p.S314N|PITX2_uc003iae.2_Missense_Mutation_p.S261N|PITX2_uc010iml.2_Missense_Mutation_p.S178N|PITX2_uc003iaf.2_Missense_Mutation_p.S307N	156	GBM-16-0861-TP	p.S307N	C	CTGGCAAGCACTCAGGTTGGA	NM_153426	NP_700475	111539315	Q99697	PITX2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	5	1502	-	T	T		Hepatocellular(203;0.217)	Missense_Mutation	307						
PITX3	0	broad.mit.edu	GRCh37	10	103990780	103990780	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-16-0861-01	TCGA-16-0861-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370002.3:c.400G>T	p.Ala134Ser	p.A134S	ENST00000370002	NM_005029.3	134	Gcg/Tcg	0			1			A	A/S	uc001kuu.1	protein_coding	YES	CCDS7532.1			400/909										0	c.(400-402)GCG>TCG			PIRSF_domain:PIRSF000563,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF305	paired-like homeodomain 3				ENSP00000359019		4-Apr									COSM3396885	4-Apr	.		ENST00000370002	Transcript	1		dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000107859	g.chr10:103990780C>A	9006			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=PITX3_HUMAN&rb=120&re=256&var=A134S	NA	getma.org/?cm=var&var=hg19,10,103990780,C,A&fts=all	A134S	--	--	1																																			1	1		benign(0.001)	p.A134S	NM_005029	NP_005020		tolerated(0.48)	1	PITX3_HUMAN	PITX3	HGNC	O75364	PITX3_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)			4	554	-		Colorectal(252;0.00957)	UPI0000131B4F	134					SNV	PITX3,missense_variant,p.Ala134Ser,ENST00000370002,NM_005029.3;PITX3,missense_variant,p.Ala134Ser,ENST00000539804,;ELOVL3,downstream_gene_variant,,ENST00000370005,NM_152310.1;	uc001kuu.1	c.400G>T	554/1391	2	2			c.400G>T						10	SNP	c.(400-402)GCG>TCG	28	28				0	Broad	paired-like homeodomain 3			103990780		0.711	ENSG00000107859	11759	g.chr10:103990780C>A	dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							22.876955	KEEP	5	4	0.444444444	1	2	5	4	0.444444444	22.861436	1	2	1	1	0	0	0	0	1	0	0	0	--	--		0	A				156	GBM-16-0861-TP	p.A134S	C	AGCGGCGCCGCGAAGCTGCCT	NM_005029	NP_005020	103990780	O75364	PITX3_HUMAN	0		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	4	554	-	A	A		Colorectal(252;0.00957)	Missense_Mutation	134						
PIWIL1	9271	broad.mit.edu	GRCh37	12	130841563	130841563	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01	TCGA-06-2567-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245255.3:c.1505G>A	p.Arg502Gln	p.R502Q	ENST00000245255	NM_004764.4	502	cGa/cAa	0			1			A	R/Q	uc001uik.2	protein_coding	YES	CCDS9268.1			1505/2586									ovary(2)	2	c.(1504-1506)CGA>CAA			Superfamily_domains:SSF53098,Gene3D:3.40.50.2300,hmmpanther:PTHR22892,hmmpanther:PTHR22892:SF31	piwi-like 1				ENSP00000245255		13/21	8.24E-06							6.06E-05	rs778735608,COSM2153078	13/21	.		ENST00000245255	Transcript			gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	ENSG00000125207	g.chr12:130841563G>A	9007			MODERATE		1.555	low	getma.org/?cm=msa&ty=f&p=PIWL1_HUMAN&rb=415&re=554&var=R502Q	NA	getma.org/?cm=var&var=hg19,12,130841563,G,A&fts=all	R502Q	--	--	1																																		PIWIL1_uc001uij.1_Missense_Mutation_p.R502Q	0,1	1		possibly_damaging(0.775)	p.R502Q	NM_004764	NP_004755		tolerated(0.12)	0,1	PIWL1_HUMAN	PIWIL1	HGNC	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	F5H889_HUMAN,F5H3U6_HUMAN,F5H2F7_HUMAN,F5GZL9_HUMAN,F5GYG0_HUMAN,F5GWW4_HUMAN		13	1595	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		UPI000007059F	502					SNV	PIWIL1,missense_variant,p.Arg502Gln,ENST00000245255,NM_004764.4,NM_001190971.1;	uc001uik.2	c.1505G>A	1777/3897	2	2			c.1505G>A						12	SNP	c.(1504-1506)CGA>CAA	20	20			ovary(2)	2	Broad	piwi-like 1			130841563		0.348	ENSG00000125207	11760	g.chr12:130841563G>A	gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding							73.880519	KEEP	13	19	-1	42	29	13	19	-1	77.158311	42	29	0.301075	1	0	0	0	0	1	0	0	0	--	--		0	A			PIWIL1_uc001uij.1_Missense_Mutation_p.R502Q	89	GBM-06-2567-TP	p.R502Q	G	ATCTATACGCGAAGAAATTAT	NM_004764	NP_004755	130841563	Q96J94	PIWL1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	13	1595	+	A	A	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Missense_Mutation	502						
PIWIL1	0	broad.mit.edu	GRCh37	12	130847606	130847606	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-12-0692-01	TCGA-12-0692-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245255.3:c.2112A>G	p.Val704=	p.V704=	ENST00000245255	NM_004764.4	704	gtA/gtG	0			1			G	V	uc001uik.2	protein_coding	YES	CCDS9268.1			2112/2586									ovary(2)	2	c.(2110-2112)GTA>GTG			Superfamily_domains:SSF53098,SMART_domains:SM00950,Pfam_domain:PF02171,Gene3D:3.30.420.10,hmmpanther:PTHR22892,hmmpanther:PTHR22892:SF31,PROSITE_profiles:PS50822	piwi-like 1				ENSP00000245255		18/21									COSM2154322	18/21	.		ENST00000245255	Transcript			gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	ENSG00000125207	g.chr12:130847606A>G	9007			LOW								--	--	1																																		PIWIL1_uc001uij.1_Silent_p.V704V	1	1			p.V704V	NM_004764	NP_004755			1	PIWL1_HUMAN	PIWIL1	HGNC	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	F5H889_HUMAN,F5H3U6_HUMAN,F5H2F7_HUMAN,F5GZL9_HUMAN,F5GYG0_HUMAN,F5GWW4_HUMAN		18	2202	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		UPI000007059F	704			Piwi.		SNV	PIWIL1,synonymous_variant,p.=,ENST00000245255,NM_004764.4,NM_001190971.1;PIWIL1,upstream_gene_variant,,ENST00000541480,;	uc001uik.2	c.2112A>G	2384/3897	4	4			c.2112A>G						12	SNP	c.(2110-2112)GTA>GTG	30	30			ovary(2)	2	Broad	piwi-like 1			130847606		0.478	ENSG00000125207	11760	g.chr12:130847606A>G	gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding							219.062326	KEEP	43	27	-1	33	22	43	27	-1	219.191586	33	22	0.537037	1	0	0	0	0	0	0	1	0	--	--		0	G			PIWIL1_uc001uij.1_Silent_p.V704V	122	GBM-12-0692-TP	p.V704V	A	GCGATGGCGTAGGAGACGGCC	NM_004764	NP_004755	130847606	Q96J94	PIWL1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	18	2202	+	G	G	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Silent	704			Piwi.			
PIWIL1	0	broad.mit.edu	GRCh37	12	130830969	130830969	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01	TCGA-32-2494-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245255.3:c.371G>A	p.Arg124His	p.R124H	ENST00000245255	NM_004764.4	124	cGt/cAt	0			1			A	R/H	uc001uik.2	protein_coding	YES	CCDS9268.1			371/2586									ovary(2)	2	c.(370-372)CGT>CAT			Superfamily_domains:SSF101690,hmmpanther:PTHR22892,hmmpanther:PTHR22892:SF31	piwi-like 1				ENSP00000245255		21-May	8.24E-06							6.07E-05	rs772560236,COSM3398526	21-May	.		ENST00000245255	Transcript			gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	ENSG00000125207	g.chr12:130830969G>A	9007			MODERATE		1.685	low	getma.org/?cm=msa&ty=f&p=PIWL1_HUMAN&rb=112&re=276&var=R124H	NA	getma.org/?cm=var&var=hg19,12,130830969,G,A&fts=all	R124H	--	--	1																																		PIWIL1_uc001uij.1_Missense_Mutation_p.R124H	0,1	1		probably_damaging(0.964)	p.R124H	NM_004764	NP_004755		tolerated(0.13)	0,1	PIWL1_HUMAN	PIWIL1	HGNC	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	F5H889_HUMAN,F5H3U6_HUMAN,F5H2F7_HUMAN,F5GZL9_HUMAN,F5GYG0_HUMAN,F5GWW4_HUMAN		5	461	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		UPI000007059F	124					SNV	PIWIL1,missense_variant,p.Arg124His,ENST00000245255,NM_004764.4,NM_001190971.1;PIWIL1,missense_variant,p.Arg124His,ENST00000542723,;PIWIL1,missense_variant,p.Arg124His,ENST00000546060,;PIWIL1,missense_variant,p.Arg124His,ENST00000539995,;PIWIL1,5_prime_UTR_variant,,ENST00000540672,;PIWIL1,downstream_gene_variant,,ENST00000535956,;PIWIL1,downstream_gene_variant,,ENST00000539400,;	uc001uik.2	c.371G>A	643/3897	2	2			c.371G>A						12	SNP	c.(370-372)CGT>CAT	36	36			ovary(2)	2	Broad	piwi-like 1			130830969		0.393	ENSG00000125207	11760	g.chr12:130830969G>A	gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding							81.24128	KEEP	15	18	-1	44	30	15	18	-1	84.312432	44	30	0.308511	1	0	0	0	0	1	0	0	0	--	--		0	A			PIWIL1_uc001uij.1_Missense_Mutation_p.R124H	236	GBM-32-2494-TP	p.R124H	G	CTGACATCCCGTCCCCAGTGG	NM_004764	NP_004755	130830969	Q96J94	PIWL1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	5	461	+	A	A	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Missense_Mutation	124						
PIWIL2	0	broad.mit.edu	GRCh37	8	22211836	22211836	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-74-6573-01	TCGA-74-6573-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356766.6:c.2710A>G	p.Thr904Ala	p.T904A	ENST00000356766	NM_018068.3	904	Acg/Gcg	0			1			G	T/A	uc003xbn.2	protein_coding	YES	CCDS6029.1			2710/2922									skin(1)	1	c.(2710-2712)ACG>GCG			Superfamily_domains:SSF53098,SMART_domains:SM00950,Gene3D:3.30.420.10,Pfam_domain:PF02171,hmmpanther:PTHR22892:SF30,hmmpanther:PTHR22892,PROSITE_profiles:PS50822	piwi-like 2				ENSP00000349208		22/23									COSM3412918	22/23	.		ENST00000356766	Transcript			DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	ENSG00000197181	g.chr8:22211836A>G	17644			MODERATE		1.96	medium	getma.org/?cm=msa&ty=f&p=PIWL2_HUMAN&rb=668&re=959&var=T904A	getma.org/pdb.php?prot=PIWL2_HUMAN&from=668&to=959&var=T904A	getma.org/?cm=var&var=hg19,8,22211836,A,G&fts=all	T904A	--	--	1																																		PIWIL2_uc011kzf.1_Intron|PIWIL2_uc010ltv.2_Missense_Mutation_p.T904A|PIWIL2_uc003xbo.2_Missense_Mutation_p.T58A	1	1		probably_damaging(0.998)	p.T904A	NM_018068	NP_060538		deleterious(0)	1	PIWL2_HUMAN	PIWIL2	HGNC	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)			22	2858	+			UPI000006E98E	904			Piwi.		SNV	PIWIL2,missense_variant,p.Thr904Ala,ENST00000356766,NM_018068.3;PIWIL2,missense_variant,p.Thr904Ala,ENST00000454009,NM_001135721.1;PIWIL2,intron_variant,,ENST00000521356,;PIWIL2,non_coding_transcript_exon_variant,,ENST00000519884,;	uc003xbn.2	c.2710A>G	2858/5128	3	3			c.2710A>G						8	SNP	c.(2710-2712)ACG>GCG	1	1			skin(1)	1	Broad	piwi-like 2			22211836		0.448	ENSG00000197181	11761	g.chr8:22211836A>G	DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding							106.023982	KEEP	15	29	-1	35	41	15	29	-1	108.405888	35	41	0.336634	1	0	0	0	0	1	0	0	0	--	--		0	G			PIWIL2_uc011kzf.1_Intron|PIWIL2_uc010ltv.2_Missense_Mutation_p.T904A|PIWIL2_uc003xbo.2_Missense_Mutation_p.T58A	260	GBM-74-6573-TP	p.T904A	A	TGGCATTCCTACGCATTATGT	NM_018068	NP_060538	22211836	Q8TC59	PIWL2_HUMAN	0		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	22	2858	+	G	G			Missense_Mutation	904			Piwi.			
PIWIL3	440822	broad.mit.edu	GRCh37	22	25150829	25150829	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01	TCGA-06-5859-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332271.5:c.695C>T	p.Thr232Ile	p.T232I	ENST00000332271	NM_001255975.1	232	aCt/aTt	0			1			A	T/I	uc003abd.1	protein_coding	YES	CCDS33623.1			695/2649									ovary(3)|central_nervous_system(1)	4	c.(694-696)ACT>ATT			hmmpanther:PTHR22892:SF28,hmmpanther:PTHR22892,Superfamily_domains:SSF101690	piwi-like 3				ENSP00000330031		21-Jul									COSM2153404	21-Jul	.		ENST00000332271	Transcript			cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	ENSG00000184571	g.chr22:25150829G>A	18443			MODERATE		-2.285	neutral	getma.org/?cm=msa&ty=f&p=PIWL3_HUMAN&rb=201&re=291&var=T232I	NA	getma.org/?cm=var&var=hg19,22,25150829,G,A&fts=all	T232I	--	--	1																																		PIWIL3_uc011ajx.1_Missense_Mutation_p.T123I|PIWIL3_uc011ajy.1_Missense_Mutation_p.T123I|PIWIL3_uc010gut.1_Missense_Mutation_p.T232I	1	1		benign(0.002)	p.T232I	NM_001008496	NP_001008496		tolerated(1)	1	PIWL3_HUMAN	PIWIL3	HGNC	Q7Z3Z3	PIWL3_HUMAN					7	1112	-			UPI00002073D6	232					SNV	PIWIL3,missense_variant,p.Thr232Ile,ENST00000332271,NM_001255975.1,NM_001008496.3;PIWIL3,missense_variant,p.Thr123Ile,ENST00000533313,;PIWIL3,missense_variant,p.Thr123Ile,ENST00000527701,;PIWIL3,splice_region_variant,,ENST00000532537,;	uc003abd.1	c.695C>T	1112/3504	1	1			c.695C>T						22	SNP	c.(694-696)ACT>ATT	64	64			ovary(3)|central_nervous_system(1)	4	Broad	piwi-like 3			25150829		0.333	ENSG00000184571	11762	g.chr22:25150829G>A	cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding							114.762467	KEEP	20	21	-1	38	31	20	21	-1	116.165648	38	31	0.377358	1	0	0	0	0	1	0	0	0	--	--		0	A			PIWIL3_uc011ajx.1_Missense_Mutation_p.T123I|PIWIL3_uc011ajy.1_Missense_Mutation_p.T123I|PIWIL3_uc010gut.1_Missense_Mutation_p.T232I	103	GBM-06-5859-TP	p.T232I	G	CAGCTTGAAAGTTCTGGAAAT	NM_001008496	NP_001008496	25150829	Q7Z3Z3	PIWL3_HUMAN	0			7	1112	-	A	A			Missense_Mutation	232						
PIWIL3	440822	broad.mit.edu	GRCh37	22	25155854	25155854	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6390-01	TCGA-06-6390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332271.5:c.205G>A	p.Gly69Arg	p.G69R	ENST00000332271	NM_001255975.1	69	Gga/Aga	0			1			T	G/R	uc003abd.1	protein_coding	YES	CCDS33623.1			205/2649									ovary(3)|central_nervous_system(1)	4	c.(205-207)GGA>AGA			Low_complexity_(Seg):seg,hmmpanther:PTHR22892:SF28,hmmpanther:PTHR22892	piwi-like 3				ENSP00000330031		21-Mar									COSM2153441	21-Mar	.		ENST00000332271	Transcript			cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	ENSG00000184571	g.chr22:25155854C>T	18443			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=PIWL3_HUMAN&rb=1&re=200&var=G69R	NA	getma.org/?cm=var&var=hg19,22,25155854,C,T&fts=all	G69R	--	--	1																																		PIWIL3_uc011ajx.1_5'UTR|PIWIL3_uc011ajy.1_5'UTR|PIWIL3_uc010gut.1_Missense_Mutation_p.G69R	1	1		benign(0.05)	p.G69R	NM_001008496	NP_001008496		tolerated(0.68)	1	PIWL3_HUMAN	PIWIL3	HGNC	Q7Z3Z3	PIWL3_HUMAN					3	622	-			UPI00002073D6	69					SNV	PIWIL3,missense_variant,p.Gly69Arg,ENST00000332271,NM_001255975.1,NM_001008496.3;PIWIL3,5_prime_UTR_variant,,ENST00000533313,;PIWIL3,5_prime_UTR_variant,,ENST00000527701,;PIWIL3,non_coding_transcript_exon_variant,,ENST00000532537,;	uc003abd.1	c.205G>A	622/3504	2	2			c.205G>A						22	SNP	c.(205-207)GGA>AGA	19	19			ovary(3)|central_nervous_system(1)	4	Broad	piwi-like 3			25155854		0.582	ENSG00000184571	11762	g.chr22:25155854C>T	cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding							543.820255	KEEP	102	106	-1	187	195	102	106	-1	554.168795	187	195	0.346154	1	0	0	0	0	1	0	0	0	--	--		0	T			PIWIL3_uc011ajx.1_5'UTR|PIWIL3_uc011ajy.1_5'UTR|PIWIL3_uc010gut.1_Missense_Mutation_p.G69R	106	GBM-06-6390-TP	p.G69R	C	TGTGCTCCTCCTCCTGCTCCT	NM_001008496	NP_001008496	25155854	Q7Z3Z3	PIWL3_HUMAN	0			3	622	-	T	T			Missense_Mutation	69						
PIWIL4	0	broad.mit.edu	GRCh37	11	94335056	94335056	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-2571-01	TCGA-41-2571-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299001.6:c.1476C>T	p.Ser492=	p.S492=	ENST00000299001	NM_152431.2	492	agC/agT	0			1			T	S	uc001pfa.2	protein_coding	YES	CCDS31656.1			1476/2559									skin(1)	1	c.(1474-1476)AGC>AGT			hmmpanther:PTHR22892,hmmpanther:PTHR22892:SF27,Gene3D:3.40.50.2300,Superfamily_domains:SSF53098	piwi-like 4				ENSP00000299001		20-Dec	8.24E-06							6.06E-05	rs775511179,COSM2061455	20-Dec	.		ENST00000299001	Transcript			cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	ENSG00000134627	g.chr11:94335056C>T	18444			LOW								--	--	1																																		PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA	0,1	1			p.S492S	NM_152431	NP_689644			0,1	PIWL4_HUMAN	PIWIL4	HGNC	Q7Z3Z4	PIWL4_HUMAN			F5GX26_HUMAN		12	1687	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	UPI000006D0EC	492					SNV	PIWIL4,synonymous_variant,p.=,ENST00000299001,NM_152431.2;RP11-867G2.8,intron_variant,,ENST00000536540,;RP11-867G2.8,intron_variant,,ENST00000537874,;PIWIL4,synonymous_variant,p.=,ENST00000446230,;PIWIL4,synonymous_variant,p.=,ENST00000543336,;	uc001pfa.2	c.1476C>T	1687/3199	1	1			c.1476C>T						11	SNP	c.(1474-1476)AGC>AGT	7	7			skin(1)	1	Broad	piwi-like 4			94335056		0.423	ENSG00000134627	11763	g.chr11:94335056C>T	cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding							272.012183	KEEP	57	46	-1	100	95	57	46	-1	278.601303	100	95	0.338028	1	0	0	0	0	0	0	1	0	--	--		0	T			PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA	250	GBM-41-2571-TP	p.S492S	C	TTTTATGTAGCGACAGAACTG	NM_152431	NP_689644	94335056	Q7Z3Z4	PIWL4_HUMAN	0			12	1687	+	T	T		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	Silent	492						
PKD1	0	broad.mit.edu	GRCh37	16	2160687	2160687	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262304.4:c.4481G>A	p.Arg1494His	p.R1494H	ENST00000262304	NM_001009944.2	1494	cGc/cAc	0		T:0	1	T:0		T	R/H	uc002cos.1	protein_coding	YES	CCDS32369.1			4481/12912									central_nervous_system(2)|skin(1)	3	c.(4480-4482)CGC>CAC			PROSITE_profiles:PS50093,hmmpanther:PTHR10877:SF123,hmmpanther:PTHR10877,Gene3D:2.60.40.670,TIGRFAM_domain:TIGR00864,Pfam_domain:PF00801,SMART_domains:SM00089,Superfamily_domains:SSF49299	polycystin 1 isoform 1 precursor		T:0.001		ENSP00000262304	T:0	15/46	0.000142			0.00188		1.63E-05			rs559596651,COSM2156090	15/46	common_variant		ENST00000262304	Transcript	1	T:0.0002	calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	ENSG00000008710	g.chr16:2160687C>T	9008			MODERATE		-0.235	neutral	getma.org/?cm=msa&ty=f&p=PKD1_HUMAN&rb=1470&re=1538&var=R1494H	NA	getma.org/?cm=var&var=hg19,16,2160687,C,T&fts=all	R1494H	--	--	1																																		PKD1_uc002cot.1_Missense_Mutation_p.R1494H	0,1	1		benign(0.004)	p.R1494H	NM_001009944	NP_001009944	T:0		0,1	PKD1_HUMAN	PKD1	HGNC	P98161	PKD1_HUMAN			O75276_HUMAN		15	4690	-			UPI00001B0454	1494			Extracellular (Potential).|PKD 10.		SNV	PKD1,missense_variant,p.Arg1494His,ENST00000262304,NM_001009944.2;PKD1,missense_variant,p.Arg1494His,ENST00000423118,NM_000296.3;PKD1,intron_variant,,ENST00000488185,;PKD1,intron_variant,,ENST00000483024,;RP11-304L19.4,upstream_gene_variant,,ENST00000568795,;PKD1,intron_variant,,ENST00000468674,;PKD1,upstream_gene_variant,,ENST00000561991,;PKD1,upstream_gene_variant,,ENST00000473780,;PKD1,upstream_gene_variant,,ENST00000483558,;PKD1,upstream_gene_variant,,ENST00000564865,;PKD1,intron_variant,,ENST00000483731,;PKD1,intron_variant,,ENST00000415938,;PKD1,intron_variant,,ENST00000568591,;PKD1,intron_variant,,ENST00000565639,;PKD1,intron_variant,,ENST00000569983,;PKD1,upstream_gene_variant,,ENST00000487932,;PKD1,upstream_gene_variant,,ENST00000486339,;PKD1,upstream_gene_variant,,ENST00000496574,;PKD1,downstream_gene_variant,,ENST00000469241,;PKD1,upstream_gene_variant,,ENST00000564890,;	uc002cos.1	c.4481G>A	4690/14138	2	2			c.4481G>A						16	SNP	c.(4480-4482)CGC>CAC	48	48			central_nervous_system(2)|skin(1)	3	Broad	polycystin 1 isoform 1 precursor			2160687		0.652	ENSG00000008710	11766	g.chr16:2160687C>T	calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding							18.368463	KEEP	7	6	-1	16	33	7	6	-1	20.235742	16	33	0.257143	1	0	0	0	0	1	0	0	0	--	--		0	T			PKD1_uc002cot.1_Missense_Mutation_p.R1494H	160	GBM-19-1790-TP	p.R1494H	C	GCTGGCGGGGCGCCCACGGCC	NM_001009944	NP_001009944	2160687	P98161	PKD1_HUMAN	0			15	4690	-	T	T			Missense_Mutation	1494			Extracellular (Potential).|PKD 10.			
PKD1	0	broad.mit.edu	GRCh37	16	2156265	2156265	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-2514-01	TCGA-28-2514-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262304.4:c.7530C>T	p.Tyr2510=	p.Y2510=	ENST00000262304	NM_001009944.2	2510	taC/taT	0	A:0	A:0	1	A:0		A	Y	uc002cos.1	protein_coding	YES	CCDS32369.1			7530/12912									central_nervous_system(2)|skin(1)	3	c.(7528-7530)TAC>TAT			PROSITE_profiles:PS51111,hmmpanther:PTHR10877:SF123,hmmpanther:PTHR10877,Pfam_domain:PF02010,TIGRFAM_domain:TIGR00864	polycystin 1 isoform 1 precursor		A:0	A:0.0001	ENSP00000262304	A:0	19/46	3.34E-05					6.76E-05			rs377373905,COSM3402169	19/46	.		ENST00000262304	Transcript	1	A:0.0002	calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	ENSG00000008710	g.chr16:2156265G>A	9008			LOW								--	--	1																																		PKD1_uc002cot.1_Silent_p.Y2510Y|PKD1_uc010bse.1_5'Flank	0,1	1			p.Y2510Y	NM_001009944	NP_001009944	A:0.001		0,1	PKD1_HUMAN	PKD1	HGNC	P98161	PKD1_HUMAN			O75276_HUMAN		19	7739	-			UPI00001B0454	2510			Extracellular (Potential).|REJ.		SNV	PKD1,synonymous_variant,p.=,ENST00000262304,NM_001009944.2;PKD1,synonymous_variant,p.=,ENST00000423118,NM_000296.3;PKD1,upstream_gene_variant,,ENST00000567946,;PKD1,downstream_gene_variant,,ENST00000488185,;PKD1,downstream_gene_variant,,ENST00000483024,;PKD1,non_coding_transcript_exon_variant,,ENST00000561991,;PKD1,downstream_gene_variant,,ENST00000473780,;PKD1,downstream_gene_variant,,ENST00000483558,;PKD1,upstream_gene_variant,,ENST00000475889,;PKD1,downstream_gene_variant,,ENST00000468674,;PKD1,upstream_gene_variant,,ENST00000564865,;PKD1,synonymous_variant,p.=,ENST00000487932,;PKD1,non_coding_transcript_exon_variant,,ENST00000486339,;PKD1,non_coding_transcript_exon_variant,,ENST00000496574,;PKD1,non_coding_transcript_exon_variant,,ENST00000483731,;PKD1,non_coding_transcript_exon_variant,,ENST00000415938,;PKD1,non_coding_transcript_exon_variant,,ENST00000565639,;PKD1,non_coding_transcript_exon_variant,,ENST00000564890,;PKD1,downstream_gene_variant,,ENST00000568591,;PKD1,upstream_gene_variant,,ENST00000471603,;PKD1,upstream_gene_variant,,ENST00000480227,;PKD1,upstream_gene_variant,,ENST00000562297,;PKD1,upstream_gene_variant,,ENST00000474088,;PKD1,downstream_gene_variant,,ENST00000569983,;	uc002cos.1	c.7530C>T	7739/14138	1	1			c.7530C>T						16	SNP	c.(7528-7530)TAC>TAT	56	56			central_nervous_system(2)|skin(1)	3	Broad	polycystin 1 isoform 1 precursor			2156265		0.687	ENSG00000008710	11766	g.chr16:2156265G>A	calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding							66.551194	KEEP	12	15	-1	12	17	12	15	-1	66.554596	12	17	0.489362	1	0	0	0	0	0	0	1	0	--	--		0	A			PKD1_uc002cot.1_Silent_p.Y2510Y|PKD1_uc010bse.1_5'Flank	214	GBM-28-2514-TP	p.Y2510Y	G	GCAGCAGGGCGTACACCAGCG	NM_001009944	NP_001009944	2156265	P98161	PKD1_HUMAN	0			19	7739	-	A	A			Silent	2510			Extracellular (Potential).|REJ.			
PKD1	5310		GRCh37	16	2155892	2155892	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000262304.4:c.7837T>C	p.Leu2613=	p.L2613=	ENST00000262304	NM_001009944.2	2613	Ttg/Ctg	0																																																																																																																																																																																																																																												
PKD1L1	168507	broad.mit.edu	GRCh37	7	47835588	47835588	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0188-01	TCGA-06-0188-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000289672.2:c.8354A>G	p.His2785Arg	p.H2785R	ENST00000289672	NM_138295.3	2785	cAc/cGc	0			1			C	H/R	uc003tny.1	protein_coding	YES	CCDS34633.1			8354/8550									ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11	c.(8353-8355)CAC>CGC			hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF32	polycystin-1L1				ENSP00000289672		55/57									COSM3412107	55/57	.		ENST00000289672	Transcript			cell-cell adhesion	integral to membrane		ENSG00000158683	g.chr7:47835588T>C	18053			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=PK1L1_HUMAN&rb=2677&re=2849&var=H2785R	NA	getma.org/?cm=var&var=hg19,7,47835588,T,C&fts=all	H2785R	--	--	1																																		C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron	1	1		benign(0.147)	p.H2785R	NM_138295	NP_612152		tolerated(0.12)	1	PK1L1_HUMAN	PKD1L1	HGNC	Q8TDX9	PK1L1_HUMAN					55	8354	-			UPI0000130FA9	2785			Cytoplasmic (Potential).		SNV	PKD1L1,missense_variant,p.His2785Arg,ENST00000289672,NM_138295.3;C7orf69,intron_variant,,ENST00000418326,;C7orf69,intron_variant,,ENST00000258776,NM_025031.2;HUS1,intron_variant,,ENST00000436444,;	uc003tny.1	c.8354A>G	8405/9092	4	4			c.8354A>G						7	SNP	c.(8353-8355)CAC>CGC	45	45			ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11	Broad	polycystin-1L1			47835588		0.413	ENSG00000158683	11767	g.chr7:47835588T>C	cell-cell adhesion	integral to membrane								-75.877772	KEEP	3	3	-1	179	168	3	3	-1	8.132976	179	168	0.012903	1	0	0	0	0	1	0	0	0	--	--		0	C			C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron	41	GBM-06-0188-TP	p.H2785R	T	ACAGCTTACGTGATTCTCAAC	NM_138295	NP_612152	47835588	Q8TDX9	PK1L1_HUMAN	0			55	8354	-	C	C			Missense_Mutation	2785			Cytoplasmic (Potential).			
PKD1L1	168507	broad.mit.edu	GRCh37	7	47867036	47867036	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-2562-01	TCGA-06-2562-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000289672.2:c.6766C>G	p.Leu2256Val	p.L2256V	ENST00000289672	NM_138295.3	2256	Ctg/Gtg	0			1			C	L/V	uc003tny.1	protein_coding	YES	CCDS34633.1			6766/8550									ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11	c.(6766-6768)CTG>GTG			hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF32	polycystin-1L1				ENSP00000289672		45/57									COSM3412109	45/57	.		ENST00000289672	Transcript			cell-cell adhesion	integral to membrane		ENSG00000158683	g.chr7:47867036G>C	18053			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=PK1L1_HUMAN&rb=1961&re=2309&var=L2256V	NA	getma.org/?cm=var&var=hg19,7,47867036,G,C&fts=all	L2256V	--	--	1																																		C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_5'UTR	1	1		possibly_damaging(0.788)	p.L2256V	NM_138295	NP_612152		deleterious(0)	1	PK1L1_HUMAN	PKD1L1	HGNC	Q8TDX9	PK1L1_HUMAN					45	6766	-			UPI0000130FA9	2256			Cytoplasmic (Potential).		SNV	PKD1L1,missense_variant,p.Leu2256Val,ENST00000289672,NM_138295.3;PKD1L1,non_coding_transcript_exon_variant,,ENST00000483616,;HUS1,intron_variant,,ENST00000436444,;	uc003tny.1	c.6766C>G	6817/9092	4	4			c.6766C>G						7	SNP	c.(6766-6768)CTG>GTG	37	37			ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11	Broad	polycystin-1L1			47867036		0.667	ENSG00000158683	11767	g.chr7:47867036G>C	cell-cell adhesion	integral to membrane								12.616129	KEEP	4	4	-1	23	24	4	4	-1	18.852288	23	24	0.14	1	0	0	0	0	1	0	0	0	--	--		0	C			C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_5'UTR	85	GBM-06-2562-TP	p.L2256V	G	GCCCAGCGCAGGTGGCGAGCT	NM_138295	NP_612152	47867036	Q8TDX9	PK1L1_HUMAN	0			45	6766	-	C	C			Missense_Mutation	2256			Cytoplasmic (Potential).			
PKD1L1	0	broad.mit.edu	GRCh37	7	47840381	47840381	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs141837186		TCGA-28-5220-01	TCGA-28-5220-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000289672.2:c.8059C>T	p.Pro2687Ser	p.P2687S	ENST00000289672	NM_138295.3	2687	Ccc/Tcc	0	A:0		1			A	P/S	uc003tny.1	protein_coding	YES	CCDS34633.1			8059/8550									ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11	c.(8059-8061)CCC>TCC			hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF32,Transmembrane_helices:TMhelix	polycystin-1L1			A:0.0002	ENSP00000289672		54/57	0.000124		8.64E-05			0.00021			rs141837186,COSM3412108	54/57	.		ENST00000289672	Transcript			cell-cell adhesion	integral to membrane		ENSG00000158683	g.chr7:47840381G>A	18053			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=PK1L1_HUMAN&rb=2677&re=2849&var=P2687S	NA	getma.org/?cm=var&var=hg19,7,47840381,G,A&fts=all	P2687S	--	--	1																																		C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron	0,1	1		benign(0.014)	p.P2687S	NM_138295	NP_612152		tolerated(0.69)	0,1	PK1L1_HUMAN	PKD1L1	HGNC	Q8TDX9	PK1L1_HUMAN					54	8059	-			UPI0000130FA9	2687			Extracellular (Potential).		SNV	PKD1L1,missense_variant,p.Pro2687Ser,ENST00000289672,NM_138295.3;C7orf69,intron_variant,,ENST00000418326,;C7orf69,intron_variant,,ENST00000258776,NM_025031.2;HUS1,intron_variant,,ENST00000436444,;	uc003tny.1	c.8059C>T	8110/9092	2	2			c.8059C>T						7	SNP	c.(8059-8061)CCC>TCC	34	34			ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11	Broad	polycystin-1L1			47840381		0.577	ENSG00000158683	11767	g.chr7:47840381G>A	cell-cell adhesion	integral to membrane								320.868208	KEEP	54	76	-1	150	160	54	76	-1	335.130163	150	160	0.29443	1	0	0	0	0	1	0	0	0	--	--		0	A			C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron	226	GBM-28-5220-TP	p.P2687S	G	AGCAGCCCGGGGAAGGCGTCT	NM_138295	NP_612152	47840381	Q8TDX9	PK1L1_HUMAN	0			54	8059	-	A	A			Missense_Mutation	2687			Extracellular (Potential).			
PKD1L1	168507		GRCh37	7	47869692	47869692	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000289672.2:c.6504G>A	p.Leu2168=	p.L2168=	ENST00000289672	NM_138295.3	2168	ctG/ctA	0																																																																																																																																																																																																																																												
PKD1L2	114780	broad.mit.edu	GRCh37	16	81187697	81187697	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-2559-01	TCGA-06-2559-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000525539.1:c.4275C>G	p.His1425Gln	p.H1425Q	ENST00000525539	NM_052892.3	1425	caC/caG	0			1			C		uc002fgh.1	retained_intron														ovary(1)|central_nervous_system(1)|pancreas(1)	3	c.(4273-4275)CAC>CAG				polycystin 1-like 2 isoform a						16/25									COSM3402498	16/25	.		ENST00000299598	Transcript			neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	ENSG00000166473	g.chr16:81187697G>C	21715			MODIFIER								--	--	1																																		PKD1L2_uc002fgg.1_RNA	1				p.H1425Q	NM_052892	NP_443124			1		PKD1L2	HGNC	Q7Z442	PK1L2_HUMAN					26	4275	-				1425			Cytoplasmic (Potential).|PLAT.		SNV	PKD1L2,non_coding_transcript_exon_variant,,ENST00000299598,;PKD1L2,downstream_gene_variant,,ENST00000529079,;PKD1L2,missense_variant,p.His1425Gln,ENST00000525539,NM_052892.3;PKD1L2,missense_variant,p.His740Gln,ENST00000533478,NM_001278425.1;	uc002fgh.1	c.4275C>G	3672/5818	3	3			c.4275C>G						16	SNP	c.(4273-4275)CAC>CAG	1	1			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Broad	polycystin 1-like 2 isoform a			81187697		0.607	ENSG00000166473	11768	g.chr16:81187697G>C	neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding							6.515361	KEEP	1	3	-1	8	7	1	3	-1	7.979568	8	7	0.1875	1	0	0	0	0	1	0	0	0	--	--		0	C			PKD1L2_uc002fgg.1_RNA	83	GBM-06-2559-TP	p.H1425Q	G	GATCAGCCAGGTGGTGGGGCT	NM_052892	NP_443124	81187697	Q7Z442	PK1L2_HUMAN	0			26	4275	-	C	C			Missense_Mutation	1425			Cytoplasmic (Potential).|PLAT.			
PKD1L2	114780	broad.mit.edu	GRCh37	16	81236192	81236192	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337114.4:c.1056C>T	p.Ser352=	p.S352=	ENST00000337114	NM_001076780.1	352	tcC/tcT	0			1			A	S	uc002fgh.1	protein_coding					1056/2976									ovary(1)|central_nervous_system(1)|pancreas(1)	3	c.(1054-1056)TCC>TCT			hmmpanther:PTHR10877:SF108,hmmpanther:PTHR10877	polycystin 1-like 2 isoform a				ENSP00000337397		18-Jun	3.30E-05	0.000102		0.000116	0.000151	1.50E-05			rs758343926,COSM1262269,COSM1262270	18-Jun	.		ENST00000337114	Transcript			neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	ENSG00000166473	g.chr16:81236192G>A	21715			LOW								--	--	1																																		PKD1L2_uc002fgj.2_Silent_p.S352S	0,1,1	1			p.S352S	NM_052892	NP_443124			0,1,1	PK1L2_HUMAN	PKD1L2	HGNC	Q7Z442	PK1L2_HUMAN			Q6AI51_HUMAN		6	1056	-			UPI0000E4C8FA	352			Extracellular (Potential).		SNV	PKD1L2,synonymous_variant,p.=,ENST00000337114,NM_001076780.1;PKD1L2,upstream_gene_variant,,ENST00000526632,;PKD1L2,synonymous_variant,p.=,ENST00000525539,NM_052892.3;	uc002fgh.1	c.1056C>T	1056/3427	2	2			c.1056C>T						16	SNP	c.(1054-1056)TCC>TCT	17	17			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Broad	polycystin 1-like 2 isoform a			81236192		0.582	ENSG00000166473	11768	g.chr16:81236192G>A	neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding							-11.709902	KEEP	1	4	-1	50	53	1	4	-1	10.327938	50	53	0.04902	1	0	0	0	0	0	0	1	0	--	--		0	A			PKD1L2_uc002fgj.2_Silent_p.S352S	102	GBM-06-5858-TP	p.S352S	G	GGGACAGGCCGGAGCATGCAG	NM_052892	NP_443124	81236192	Q7Z442	PK1L2_HUMAN	0			6	1056	-	A	A			Silent	352			Extracellular (Potential).			
PKD1L2	0	broad.mit.edu	GRCh37	16	81211460	81211460	+	intron_variant	Intron	SNP	C	C	T			TCGA-14-1456-01	TCGA-14-1456-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000527937.1:c.205+1790G>A		*69*	ENST00000527937				0	T:0		1			T		uc002fgh.1	protein_coding	YES				-/723									ovary(1)|central_nervous_system(1)|pancreas(1)	3	c.(2389-2391)GCC>ACC				polycystin 1-like 2 isoform a			T:0.0001	ENSP00000432818			8.26E-06					1.50E-05			rs370023428,COSM3402499,COSM3402501,COSM3402500		.		ENST00000527937	Transcript			neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	ENSG00000166473	g.chr16:81211460C>T	21715			MODIFIER	3-Feb							--	--	1																																		PKD1L2_uc002fgg.1_RNA|PKD1L2_uc002fgi.2_Missense_Mutation_p.A112T|PKD1L2_uc002fgj.2_Missense_Mutation_p.A797T|PKD1L2_uc002fgk.1_5'UTR|PKD1L2_uc002fgl.1_Intron	0,1,1,1	1			p.A797T	NM_052892	NP_443124			0,1,1,1	PK1L2_HUMAN	PKD1L2	HGNC	Q7Z442	PK1L2_HUMAN					14	2389	-			UPI00001C0DE3	797			REJ.|Extracellular (Potential).		SNV	PKD1L2,missense_variant,p.Ala797Thr,ENST00000337114,NM_001076780.1;PKD1L2,missense_variant,p.Ala325Thr,ENST00000526632,;PKD1L2,missense_variant,p.Ala112Thr,ENST00000531391,NM_001278423.1;PKD1L2,intron_variant,,ENST00000527937,;PKD1L2,non_coding_transcript_exon_variant,,ENST00000529791,;PKD1L2,non_coding_transcript_exon_variant,,ENST00000299598,;PKD1L2,missense_variant,p.Ala797Thr,ENST00000525539,NM_052892.3;PKD1L2,missense_variant,p.Ala112Thr,ENST00000533478,NM_001278425.1;	uc002fgh.1	c.2389G>A	-/4165	2	2			c.2389G>A						16	SNP	c.(2389-2391)GCC>ACC	30	30			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Broad	polycystin 1-like 2 isoform a			81211460		0.592	ENSG00000166473	11768	g.chr16:81211460C>T	neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding							6.875999	KEEP	9	12	-1	94	116	9	12	-1	40.587607	94	116	0.093596	1	0	0	0	0	1	0	0	0	--	--		0	T			PKD1L2_uc002fgg.1_RNA|PKD1L2_uc002fgi.2_Missense_Mutation_p.A112T|PKD1L2_uc002fgj.2_Missense_Mutation_p.A797T|PKD1L2_uc002fgk.1_5'UTR|PKD1L2_uc002fgl.1_Intron	146	GBM-14-1456-TP	p.A797T	C	GCTGTGGAGGCGTTGCAGAAG	NM_052892	NP_443124	81211460	Q7Z442	PK1L2_HUMAN	0			14	2389	-	T	T			Missense_Mutation	797			REJ.|Extracellular (Potential).			
PKD1L2	0	broad.mit.edu	GRCh37	16	81175094	81175094	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-26-5139-01	TCGA-26-5139-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000525539.1:c.5225G>C	p.Ser1742Thr	p.S1742T	ENST00000525539	NM_052892.3	1742	aGt/aCt	0			1			G		uc002fgh.1	retained_intron														ovary(1)|central_nervous_system(1)|pancreas(1)	3	c.(5224-5226)AGT>ACT				polycystin 1-like 2 isoform a						21/25	8.28E-06								rs760242510,COSM3402496	21/25	.		ENST00000299598	Transcript			neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	ENSG00000166473	g.chr16:81175094C>G	21715			MODIFIER								--	--	1																																		PKD1L2_uc002fgg.1_RNA	0,1				p.S1742T	NM_052892	NP_443124			0,1		PKD1L2	HGNC	Q7Z442	PK1L2_HUMAN					31	5225	-				1742			Cytoplasmic (Potential).		SNV	PKD1L2,non_coding_transcript_exon_variant,,ENST00000299598,;PKD1L2,non_coding_transcript_exon_variant,,ENST00000530363,;PKD1L2,missense_variant,p.Ser1742Thr,ENST00000525539,NM_052892.3;PKD1L2,missense_variant,p.Ser1057Thr,ENST00000533478,NM_001278425.1;	uc002fgh.1	c.5225G>C	4622/5818	3	3			c.5225G>C						16	SNP	c.(5224-5226)AGT>ACT	9	9			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Broad	polycystin 1-like 2 isoform a			81175094		0.582	ENSG00000166473	11768	g.chr16:81175094C>G	neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding							13.662073	KEEP	2	5	-1	9	11	2	5	-1	15.355875	9	11	0.217391	1	0	0	0	0	1	0	0	0	--	--		0	G			PKD1L2_uc002fgg.1_RNA	186	GBM-26-5139-TP	p.S1742T	C	CCAGGGGCCACTCCGTGCCGC	NM_052892	NP_443124	81175094	Q7Z442	PK1L2_HUMAN	0			31	5225	-	G	G			Missense_Mutation	1742			Cytoplasmic (Potential).			
PKD1L2	0	broad.mit.edu	GRCh37	16	81151072	81151072	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-6450-01	TCGA-28-6450-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000525539.1:c.6676C>T	p.Pro2226Ser	p.P2226S	ENST00000525539	NM_052892.3	2226	Cca/Tca	0			1			A		uc002fgh.1	processed_transcript														ovary(1)|central_nervous_system(1)|pancreas(1)	3	c.(6676-6678)GCC>GTC				polycystin 1-like 2 isoform a						11-Jul										11-Jul	.		ENST00000534142	Transcript			neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	ENSG00000166473	g.chr16:81151072G>A	21715			MODIFIER								--	--	1																																		PKD1L2_uc002fgf.1_Missense_Mutation_p.A26V|PKD1L2_uc002fgg.1_RNA					p.A2226V	NM_052892	NP_443124					PKD1L2	HGNC	Q7Z442	PK1L2_HUMAN					41	6677	-				2226			Helical; (Potential).		SNV	PKD1L2,non_coding_transcript_exon_variant,,ENST00000534142,;PKD1L2,upstream_gene_variant,,ENST00000534447,;PKD1L2,missense_variant,p.Pro2226Ser,ENST00000525539,NM_052892.3;PKD1L2,missense_variant,p.Pro1541Ser,ENST00000533478,NM_001278425.1;	uc002fgh.1	c.6677C>T	1065/2012	2	2			c.6677C>T						16	SNP	c.(6676-6678)GCC>GTC	17	17			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Broad	polycystin 1-like 2 isoform a			81151072		0.612	ENSG00000166473	11768	g.chr16:81151072G>A	neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding							130.89983	KEEP	30	21	-1	27	38	30	21	-1	131.177478	27	38	0.444444	1	0	0	0	0	1	0	0	0	--	--		0	A			PKD1L2_uc002fgf.1_Missense_Mutation_p.A26V|PKD1L2_uc002fgg.1_RNA	227	GBM-28-6450-TP	p.A2226V	G	CAGGATGATGGCCAGCTCCAG	NM_052892	NP_443124	81151072	Q7Z442	PK1L2_HUMAN	0			41	6677	-	A	A			Missense_Mutation	2226			Helical; (Potential).			
PKD1L2	0	broad.mit.edu	GRCh37	16	81181775	81181775	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-81-5910-01	TCGA-81-5910-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000525539.1:c.4941C>T	p.Asp1647=	p.D1647=	ENST00000525539	NM_052892.3	1647	gaC/gaT	0			1			A		uc002fgh.1	retained_intron														ovary(1)|central_nervous_system(1)|pancreas(1)	3	c.(4939-4941)GAC>GAT				polycystin 1-like 2 isoform a						19/25	3.31E-05	0.000137	0.000146					0.000151	rs764653770,COSM3402497	19/25	.		ENST00000299598	Transcript			neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	ENSG00000166473	g.chr16:81181775G>A	21715			MODIFIER								--	--	1																																		PKD1L2_uc002fgg.1_RNA	0,1				p.D1647D	NM_052892	NP_443124			0,1		PKD1L2	HGNC	Q7Z442	PK1L2_HUMAN					29	4941	-				1647			Cytoplasmic (Potential).		SNV	PKD1L2,non_coding_transcript_exon_variant,,ENST00000299598,;PKD1L2,synonymous_variant,p.=,ENST00000525539,NM_052892.3;PKD1L2,synonymous_variant,p.=,ENST00000533478,NM_001278425.1;	uc002fgh.1	c.4941C>T	4338/5818	1	1			c.4941C>T						16	SNP	c.(4939-4941)GAC>GAT	64	64			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Broad	polycystin 1-like 2 isoform a			81181775		0.642	ENSG00000166473	11768	g.chr16:81181775G>A	neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding							12.935877	KEEP	2	4	-1	8	11	2	4	-1	14.130178	8	11	0.26087	1	0	0	0	0	0	0	1	0	--	--		0	A			PKD1L2_uc002fgg.1_RNA	289	GBM-81-5910-TP	p.D1647D	G	TCAGAAGGCCGTCCTCCATGG	NM_052892	NP_443124	81181775	Q7Z442	PK1L2_HUMAN	0			29	4941	-	A	A			Silent	1647			Cytoplasmic (Potential).			
PKD1L2	114780	broad.mit.edu	GRCh37	16	81219137	81219137	+	upstream_gene_variant	5'Flank	SNP	G	G	A			TCGA-28-2499-01	TCGA-28-2499-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.				ENST00000527937				0			1			A		uc002fgh.1	protein_coding	YES				-/723									ovary(1)|central_nervous_system(1)|pancreas(1)	3	c.(1957-1959)CTC>TTC	4205			polycystin 1-like 2 isoform a				ENSP00000432818											COSM3402502,COSM3402503		.		ENST00000527937	Transcript			neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	ENSG00000166473	g.chr16:81219137G>A	21715			MODIFIER								--	--	1																																		PKD1L2_uc002fgj.2_Missense_Mutation_p.L653F	1,1	1			p.L653F	NM_052892	NP_443124			1,1	PK1L2_HUMAN	PKD1L2	HGNC	Q7Z442	PK1L2_HUMAN					11	1957	-			UPI00001C0DE3	653			REJ.|Extracellular (Potential).		SNV	PKD1L2,missense_variant,p.Leu653Phe,ENST00000337114,NM_001076780.1;PKD1L2,missense_variant,p.Leu181Phe,ENST00000526632,;PKD1L2,upstream_gene_variant,,ENST00000527937,;PKD1L2,upstream_gene_variant,,ENST00000531391,NM_001278423.1;PKD1L2,upstream_gene_variant,,ENST00000529791,;PKD1L2,non_coding_transcript_exon_variant,,ENST00000299598,;PKD1L2,missense_variant,p.Leu653Phe,ENST00000525539,NM_052892.3;PKD1L2,upstream_gene_variant,,ENST00000533478,NM_001278425.1;	uc002fgh.1	c.1957C>T	-/4165	1	1			c.1957C>T						16	SNP	c.(1957-1959)CTC>TTC	58	58			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Broad	polycystin 1-like 2 isoform a			81219137		0.567	ENSG00000166473	11768	g.chr16:81219137G>A	neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding							30.511544	KEEP	5	6	-1	18	14	5	6	-1	32.174537	18	14	0.282051	1	0	0	0	0	1	0	0	0	--	--		0	A			PKD1L2_uc002fgj.2_Missense_Mutation_p.L653F	208	GBM-28-2499-TP	p.L653F	G	GACACGTAGAGGCACTGCTCT	NM_052892	NP_443124	81219137	Q7Z442	PK1L2_HUMAN	0			11	1957	-	A	A			Missense_Mutation	653			REJ.|Extracellular (Potential).			
PKD2	5311		GRCh37	4	88973174	88973174	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000237596.2:c.1580A>G	p.Tyr527Cys	p.Y527C	ENST00000237596	NM_000297.3	527	tAc/tGc	0																																																																																																																																																																																																																																												
PKDREJ	10343	broad.mit.edu	GRCh37	22	46656782	46656782	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-02-0003-01	TCGA-02-0003-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000253255.5:c.2438G>T	p.Ser813Ile	p.S813I	ENST00000253255	NM_006071.1	813	aGt/aTt	0			1			A	S/I	uc003bhh.2	protein_coding	YES	CCDS14073.1			2438/6762									breast(3)|ovary(2)	5	c.(2437-2439)AGT>ATT			PROSITE_profiles:PS51111,hmmpanther:PTHR10877:SF113,hmmpanther:PTHR10877	receptor for egg jelly-like protein precursor				ENSP00000253255		1-Jan									COSM2148933	1-Jan	.		ENST00000253255	Transcript			acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	ENSG00000130943	g.chr22:46656782C>A	9015			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=PKDRE_HUMAN&rb=215&re=913&var=S813I	NA	getma.org/?cm=var&var=hg19,22,46656782,C,A&fts=all	S813I	--	--	1																																			1	1		benign(0.049)	p.S813I	NM_006071	NP_006062		tolerated(0.1)	1	PKDRE_HUMAN	PKDREJ	HGNC	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	A6MW40_HUMAN		1	2438	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	UPI0000031D01	813			Extracellular (Potential).|REJ.		SNV	PKDREJ,missense_variant,p.Ser813Ile,ENST00000253255,NM_006071.1;	uc003bhh.2	c.2438G>T	2438/7660	1	1			c.2438G>T						22	SNP	c.(2437-2439)AGT>ATT	54	54			breast(3)|ovary(2)	5	Broad	receptor for egg jelly-like protein precursor			46656782		0.348	ENSG00000130943	11773	g.chr22:46656782C>A	acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity							122.713348	KEEP	30	18	0.375	61	47	30	18	0.375	127.644756	61	47	0.306122	1	0	0	0	0	1	0	0	0	--	--		0	A				1	GBM-02-0003-TP	p.S813I	C	ATTAGACAAACTCATTAGTAT	NM_006071	NP_006062	46656782	Q9NTG1	PKDRE_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	2438	-	A	A		Ovarian(80;0.00965)|all_neural(38;0.0416)	Missense_Mutation	813			Extracellular (Potential).|REJ.			
PKDREJ	10343		GRCh37	22	46657006	46657006	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000253255.5:c.2214C>T	p.Ile738=	p.I738=	ENST00000253255	NM_006071.1	738	atC/atT	0																																																																																																																																																																																																																																												
PKHD1	5314	broad.mit.edu	GRCh37	6	51947198	51947198	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371117.3:c.273C>T	p.Cys91=	p.C91=	ENST00000371117	NM_138694.3	91	tgC/tgT	0			1			A	C	uc003pah.1	protein_coding	YES	CCDS4935.1			273/12225									lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	c.(271-273)TGC>TGT				fibrocystin isoform 1				ENSP00000360158		Apr-67									COSM484197,COSM1137547	Apr-67	.		ENST00000371117	Transcript	1		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	ENSG00000170927	g.chr6:51947198G>A	9016			LOW								--	--	1																																		PKHD1_uc003pai.2_Silent_p.C91C	1,1	1			p.C91C	NM_138694	NP_619639			1,1	PKHD1_HUMAN	PKHD1	HGNC	P08F94	PKHD1_HUMAN					4	549	-	Lung NSC(77;0.0605)		UPI000013C4C0	91			Extracellular (Potential).|IPT/TIG 1; atypical.		SNV	PKHD1,synonymous_variant,p.=,ENST00000371117,NM_138694.3;PKHD1,synonymous_variant,p.=,ENST00000340994,NM_170724.2;	uc003pah.1	c.273C>T	549/16282	1	1			c.273C>T						6	SNP	c.(271-273)TGC>TGT	57	57			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Broad	fibrocystin isoform 1			51947198		0.478	ENSG00000170927	11774	g.chr6:51947198G>A	cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			1537			1537	-57.829429	KEEP	1	4	-1	117	146	1	4	-1	6.466428	117	146	0.016461	1	0	0	0	0	0	0	1	0	--	--		0	A			PKHD1_uc003pai.2_Silent_p.C91C	18	GBM-06-0137-TP	p.C91C	G	ACCTGGTCCGGCATGTCACCA	NM_138694	NP_619639	51947198	P08F94	PKHD1_HUMAN	0			4	549	-	A	A	Lung NSC(77;0.0605)		Silent	91			Extracellular (Potential).|IPT/TIG 1; atypical.			
PKHD1	5314	broad.mit.edu	GRCh37	6	51889738	51889738	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0152-01	TCGA-06-0152-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371117.3:c.4870C>T	p.Arg1624Trp	p.R1624W	ENST00000371117	NM_138694.3	1624	Cgg/Tgg	0	A:0		1			A	R/W	uc003pah.1	protein_coding	YES	CCDS4935.1			4870/12225								p.R1624W(1)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	c.(4870-4872)CGG>TGG			hmmpanther:PTHR11915:SF230,hmmpanther:PTHR11915,Pfam_domain:PF01833,Gene3D:2.60.40.10,SMART_domains:SM00429,Superfamily_domains:SSF81296	fibrocystin isoform 1			A:0.0002	ENSP00000360158		32/67	0.000181	9.61E-05				0.000285		0.000121	rs200391019,COSM32859,COSM1445112	32/67	.		ENST00000371117	Transcript	1		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	ENSG00000170927	g.chr6:51889738G>A	9016			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=PKHD1_HUMAN&rb=1573&re=1657&var=R1624W	NA	getma.org/?cm=var&var=hg19,6,51889738,G,A&fts=all	R1624W	--	--	1																																		PKHD1_uc003pai.2_Missense_Mutation_p.R1624W	1,1,1	1		possibly_damaging(0.67)	p.R1624W	NM_138694	NP_619639		deleterious(0)	0,1,1	PKHD1_HUMAN	PKHD1	HGNC	P08F94	PKHD1_HUMAN					32	5146	-	Lung NSC(77;0.0605)		UPI000013C4C0	1624		R -> W (in ARPKD).	Extracellular (Potential).|IPT/TIG 11.		SNV	PKHD1,missense_variant,p.Arg1624Trp,ENST00000371117,NM_138694.3;PKHD1,missense_variant,p.Arg1624Trp,ENST00000340994,NM_170724.2;	uc003pah.1	c.4870C>T	5146/16282	2	2			c.4870C>T						6	SNP	c.(4870-4872)CGG>TGG	29	29		p.R1624W(1)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Broad	fibrocystin isoform 1			51889738		0.507	ENSG00000170927	11774	g.chr6:51889738G>A	cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity		p.R1624W(HS934.T-Tumor)	1537		p.R1624W(HS934.T-Tumor)	1537	334.801363	KEEP	70	48	-1	102	95	70	48	-1	338.196477	102	95	0.382143	1	0	0	0	0	1	0	0	0	--	--		0	A			PKHD1_uc003pai.2_Missense_Mutation_p.R1624W	25	GBM-06-0152-TP	p.R1624W	G	ACAATGCACCGGATGAGCTCA	NM_138694	NP_619639	51889738	P08F94	PKHD1_HUMAN	0			32	5146	-	A	A	Lung NSC(77;0.0605)		Missense_Mutation	1624		R -> W (in ARPKD).	Extracellular (Potential).|IPT/TIG 11.			
PKHD1	5314	broad.mit.edu	GRCh37	6	51799064	51799064	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0171-01	TCGA-06-0171-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371117.3:c.5965C>T	p.Leu1989Phe	p.L1989F	ENST00000371117	NM_138694.3	1989	Ctt/Ttt	0			1			A	L/F	uc003pah.1	protein_coding	YES	CCDS4935.1			5965/12225									lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	c.(5965-5967)CTT>TTT			PROSITE_profiles:PS51484,hmmpanther:PTHR11915:SF230,hmmpanther:PTHR11915,Pfam_domain:PF10162	fibrocystin isoform 1				ENSP00000360158		37/67									COSM2150321,COSM2150322	37/67	.		ENST00000371117	Transcript	1		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	ENSG00000170927	g.chr6:51799064G>A	9016			MODERATE		3.06	medium	getma.org/?cm=msa&ty=f&p=PKHD1_HUMAN&rb=1932&re=2053&var=L1989F	NA	getma.org/?cm=var&var=hg19,6,51799064,G,A&fts=all	L1989F	--	--	1																																OREG0017491	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	PKHD1_uc010jzn.1_Missense_Mutation_p.L14F|PKHD1_uc003pai.2_Missense_Mutation_p.L1989F	1,1	1		probably_damaging(1)	p.L1989F	NM_138694	NP_619639		deleterious(0)	1,1	PKHD1_HUMAN	PKHD1	HGNC	P08F94	PKHD1_HUMAN					37	6241	-	Lung NSC(77;0.0605)		UPI000013C4C0	1989			Extracellular (Potential).|G8 1.		SNV	PKHD1,missense_variant,p.Leu1989Phe,ENST00000371117,NM_138694.3;PKHD1,missense_variant,p.Leu1989Phe,ENST00000340994,NM_170724.2;	uc003pah.1	c.5965C>T	6241/16282	2	2			c.5965C>T						6	SNP	c.(5965-5967)CTT>TTT	21	21			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Broad	fibrocystin isoform 1			51799064		0.542	ENSG00000170927	11774	g.chr6:51799064G>A	cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			1537			1537	149.126246	KEEP	26	30	-1	67	79	26	30	-1	156.725122	67	79	0.28	1	0	0	0	0	1	0	0	0	--	--		0	A	OREG0017491	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	PKHD1_uc010jzn.1_Missense_Mutation_p.L14F|PKHD1_uc003pai.2_Missense_Mutation_p.L1989F	35	GBM-06-0171-TP	p.L1989F	G	TCAGAAACAAGGATGGCGTGT	NM_138694	NP_619639	51799064	P08F94	PKHD1_HUMAN	0			37	6241	-	A	A	Lung NSC(77;0.0605)		Missense_Mutation	1989			Extracellular (Potential).|G8 1.			
PKHD1	5314	broad.mit.edu	GRCh37	6	51890717	51890717	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0174-01	TCGA-06-0174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371117.3:c.3891G>A	p.Ala1297=	p.A1297=	ENST00000371117	NM_138694.3	1297	gcG/gcA	0			1			T	A	uc003pah.1	protein_coding	YES	CCDS4935.1			3891/12225									lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	c.(3889-3891)GCG>GCA				fibrocystin isoform 1				ENSP00000360158		32/67	4.94E-05			0.000232		6.03E-05			rs775529923,COSM3411179,COSM3411180	32/67	.		ENST00000371117	Transcript	1		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	ENSG00000170927	g.chr6:51890717C>T	9016			LOW								--	--	1																																		PKHD1_uc003pai.2_Silent_p.A1297A	0,1,1	1			p.A1297A	NM_138694	NP_619639			0,1,1	PKHD1_HUMAN	PKHD1	HGNC	P08F94	PKHD1_HUMAN					32	4167	-	Lung NSC(77;0.0605)		UPI000013C4C0	1297			Extracellular (Potential).		SNV	PKHD1,synonymous_variant,p.=,ENST00000371117,NM_138694.3;PKHD1,synonymous_variant,p.=,ENST00000340994,NM_170724.2;	uc003pah.1	c.3891G>A	4167/16282	2	2			c.3891G>A						6	SNP	c.(3889-3891)GCG>GCA	36	36			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Broad	fibrocystin isoform 1			51890717		0.547	ENSG00000170927	11774	g.chr6:51890717C>T	cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			1537			1537	152.0862	KEEP	31	25	-1	51	45	31	25	-1	152.70492	51	45	0.421053	1	0	0	0	0	0	0	1	0	--	--		0	T			PKHD1_uc003pai.2_Silent_p.A1297A	37	GBM-06-0174-TP	p.A1297A	C	GTGTTGCTGCCGCTTCATACA	NM_138694	NP_619639	51890717	P08F94	PKHD1_HUMAN	0			32	4167	-	T	T	Lung NSC(77;0.0605)		Silent	1297			Extracellular (Potential).			
PKHD1	5314	broad.mit.edu	GRCh37	6	51941108	51941108	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5418-01	TCGA-06-5418-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371117.3:c.414C>T	p.Ile138=	p.I138=	ENST00000371117	NM_138694.3	138	atC/atT	0	A:0		1			A	I	uc003pah.1	protein_coding	YES	CCDS4935.1			414/12225									lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	c.(412-414)ATC>ATT				fibrocystin isoform 1			A:0.0001	ENSP00000360158		Jun-67	8.24E-06					1.51E-05			rs368595925,COSM2153328,COSM2153329	Jun-67	.		ENST00000371117	Transcript	1		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	ENSG00000170927	g.chr6:51941108G>A	9016			LOW								--	--	1																																		PKHD1_uc003pai.2_Silent_p.I138I	0,1,1	1			p.I138I	NM_138694	NP_619639			0,1,1	PKHD1_HUMAN	PKHD1	HGNC	P08F94	PKHD1_HUMAN					6	690	-	Lung NSC(77;0.0605)		UPI000013C4C0	138			IPT/TIG 2.|Extracellular (Potential).		SNV	PKHD1,synonymous_variant,p.=,ENST00000371117,NM_138694.3;PKHD1,synonymous_variant,p.=,ENST00000340994,NM_170724.2;	uc003pah.1	c.414C>T	690/16282	1	1			c.414C>T						6	SNP	c.(412-414)ATC>ATT	61	61			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Broad	fibrocystin isoform 1			51941108		0.393	ENSG00000170927	11774	g.chr6:51941108G>A	cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			1537			1537	97.858808	KEEP	20	22	-1	49	42	20	22	-1	100.64379	49	42	0.330275	1	0	0	0	0	0	0	1	0	--	--		0	A			PKHD1_uc003pai.2_Silent_p.I138I	100	GBM-06-5418-TP	p.I138I	G	CTTGGTGAACGATGGGTGTCT	NM_138694	NP_619639	51941108	P08F94	PKHD1_HUMAN	0			6	690	-	A	A	Lung NSC(77;0.0605)		Silent	138			IPT/TIG 2.|Extracellular (Potential).			
PKHD1	0	broad.mit.edu	GRCh37	6	51900449	51900449	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6695-01	TCGA-06-6695-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371117.3:c.3168G>A	p.Ser1056=	p.S1056=	ENST00000371117	NM_138694.3	1056	tcG/tcA	0			1			T	S	uc003pah.1	protein_coding	YES	CCDS4935.1			3168/12225									lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	c.(3166-3168)TCG>TCA			Pfam_domain:PF01833,Gene3D:2.60.40.10,SMART_domains:SM00429,Superfamily_domains:SSF81296	fibrocystin isoform 1				ENSP00000360158		28/67	1.65E-05					3.00E-05			rs771881705,COSM3411183,COSM3411184	28/67	.		ENST00000371117	Transcript	1		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	ENSG00000170927	g.chr6:51900449C>T	9016			LOW								--	--	1																																		PKHD1_uc003pai.2_Silent_p.S1056S	0,1,1	1			p.S1056S	NM_138694	NP_619639			0,1,1	PKHD1_HUMAN	PKHD1	HGNC	P08F94	PKHD1_HUMAN					28	3444	-	Lung NSC(77;0.0605)		UPI000013C4C0	1056			IPT/TIG 5.|Extracellular (Potential).		SNV	PKHD1,synonymous_variant,p.=,ENST00000371117,NM_138694.3;PKHD1,synonymous_variant,p.=,ENST00000340994,NM_170724.2;	uc003pah.1	c.3168G>A	3444/16282	2	2			c.3168G>A						6	SNP	c.(3166-3168)TCG>TCA	46	46			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Broad	fibrocystin isoform 1			51900449		0.453	ENSG00000170927	11774	g.chr6:51900449C>T	cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			1537			1537	149.056318	KEEP	30	33	-1	50	57	30	33	-1	151.681288	50	57	0.36129	1	0	0	0	0	0	0	1	0	--	--		0	T			PKHD1_uc003pai.2_Silent_p.S1056S	110	GBM-06-6695-TP	p.S1056S	C	TGATGGCACACGAGTAAGATC	NM_138694	NP_619639	51900449	P08F94	PKHD1_HUMAN	0			28	3444	-	T	T	Lung NSC(77;0.0605)		Silent	1056			IPT/TIG 5.|Extracellular (Potential).			
PKHD1	0	broad.mit.edu	GRCh37	6	51609339	51609339	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C			TCGA-12-3653-01	TCGA-12-3653-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371117.3:c.10000A>G	p.Lys3334Glu	p.K3334E	ENST00000371117	NM_138694.3	3334	Aaa/Gaa	0			1			C	K/E	uc003pah.1	protein_coding	YES	CCDS4935.1			10000/12225									lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	c.(10000-10002)AAA>GAA			hmmpanther:PTHR11915:SF230,hmmpanther:PTHR11915	fibrocystin isoform 1				ENSP00000360158		60/67									COSM3411175,COSM3411176	60/67	.		ENST00000371117	Transcript	1		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	ENSG00000170927	g.chr6:51609339T>C	9016			MODERATE		1.115	low	getma.org/?cm=msa&ty=f&p=PKHD1_HUMAN&rb=3178&re=3377&var=K3334E	NA	getma.org/?cm=var&var=hg19,6,51609339,T,C&fts=all	K3334E	--	--	1																																		PKHD1_uc010jzn.1_Missense_Mutation_p.K1317E|PKHD1_uc003pai.2_Missense_Mutation_p.K3334E	1,1	1		benign(0.004)	p.K3334E	NM_138694	NP_619639		tolerated(0.62)	1,1	PKHD1_HUMAN	PKHD1	HGNC	P08F94	PKHD1_HUMAN					60	10276	-	Lung NSC(77;0.0605)		UPI000013C4C0	3334			Extracellular (Potential).		SNV	PKHD1,missense_variant,p.Lys3334Glu,ENST00000371117,NM_138694.3;PKHD1,missense_variant,p.Lys3334Glu,ENST00000340994,NM_170724.2;	uc003pah.1	c.10000A>G	10276/16282	3	3			c.10000A>G						6	SNP	c.(10000-10002)AAA>GAA	6	6			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Broad	fibrocystin isoform 1			51609339		0.383	ENSG00000170927	11774	g.chr6:51609339T>C	cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			1537			1537	302.614304	KEEP	36	59	-1	47	63	36	59	-1	302.789977	47	63	0.466292	1	0	0	0	0	1	0	0	0	--	--		0	C			PKHD1_uc010jzn.1_Missense_Mutation_p.K1317E|PKHD1_uc003pai.2_Missense_Mutation_p.K3334E	128	GBM-12-3653-TP	p.K3334E	T	CCTAAATCTTTCCTGTGAAGA	NM_138694	NP_619639	51609339	P08F94	PKHD1_HUMAN	0			60	10276	-	C	C	Lung NSC(77;0.0605)		Missense_Mutation	3334			Extracellular (Potential).			
PKHD1	0	broad.mit.edu	GRCh37	6	51524416	51524416	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-5955-01	TCGA-19-5955-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371117.3:c.10508T>C	p.Leu3503Pro	p.L3503P	ENST00000371117	NM_138694.3	3503	cTc/cCc	0			1			G	L/P	uc003pah.1	protein_coding	YES	CCDS4935.1			10508/12225									lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	c.(10507-10509)CTC>CCC			hmmpanther:PTHR11915:SF230,hmmpanther:PTHR11915	fibrocystin isoform 1				ENSP00000360158		61/67										61/67	.		ENST00000371117	Transcript	1		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	ENSG00000170927	g.chr6:51524416A>G	9016			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=PKHD1_HUMAN&rb=3378&re=3577&var=L3503P	NA	getma.org/?cm=var&var=hg19,6,51524416,A,G&fts=all	L3503P	--	--	1																																				1		benign(0.008)	p.L3503P	NM_138694	NP_619639		tolerated(0.1)		PKHD1_HUMAN	PKHD1	HGNC	P08F94	PKHD1_HUMAN					61	10784	-	Lung NSC(77;0.0605)		UPI000013C4C0	3503			Extracellular (Potential).		SNV	PKHD1,missense_variant,p.Leu3503Pro,ENST00000371117,NM_138694.3;	uc003pah.1	c.10508T>C	10784/16282	3	3			c.10508T>C						6	SNP	c.(10507-10509)CTC>CCC	9	9			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Broad	fibrocystin isoform 1			51524416		0.438	ENSG00000170927	11774	g.chr6:51524416A>G	cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			1537			1537	28.756161	KEEP	3	11	-1	41	48	3	11	-1	40.972955	41	48	0.141414	1	0	0	0	0	1	0	0	0	--	--		0	G				175	GBM-19-5955-TP	p.L3503P	A	GGGGCTCTGGAGCTCATGGTA	NM_138694	NP_619639	51524416	P08F94	PKHD1_HUMAN	0			61	10784	-	G	G	Lung NSC(77;0.0605)		Missense_Mutation	3503			Extracellular (Potential).			
PKHD1	0	broad.mit.edu	GRCh37	6	51941121	51941121	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01	TCGA-27-1830-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371117.3:c.401C>T	p.Ala134Val	p.A134V	ENST00000371117	NM_138694.3	134	gCg/gTg	0	A:0		1			A	A/V	uc003pah.1	protein_coding	YES	CCDS4935.1			401/12225									lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	c.(400-402)GCG>GTG				fibrocystin isoform 1			A:0.0002	ENSP00000360158		Jun-67	3.29E-05					6.02E-05			rs374645464,COSM116218,COSM3354949	Jun-67	.		ENST00000371117	Transcript	1		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	ENSG00000170927	g.chr6:51941121G>A	9016			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=PKHD1_HUMAN&rb=1&re=200&var=A134V	NA	getma.org/?cm=var&var=hg19,6,51941121,G,A&fts=all	A134V	--	--	1																																		PKHD1_uc003pai.2_Missense_Mutation_p.A134V	0,1,1	1		benign(0.049)	p.A134V	NM_138694	NP_619639		tolerated(0.19)	0,1,1	PKHD1_HUMAN	PKHD1	HGNC	P08F94	PKHD1_HUMAN					6	677	-	Lung NSC(77;0.0605)		UPI000013C4C0	134			Extracellular (Potential).		SNV	PKHD1,missense_variant,p.Ala134Val,ENST00000371117,NM_138694.3;PKHD1,missense_variant,p.Ala134Val,ENST00000340994,NM_170724.2;	uc003pah.1	c.401C>T	677/16282	1	1			c.401C>T						6	SNP	c.(400-402)GCG>GTG	52	52			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Broad	fibrocystin isoform 1			51941121		0.393	ENSG00000170927	11774	g.chr6:51941121G>A	cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			1537			1537	81.414975	KEEP	21	11	-1	44	30	21	11	-1	84.558405	44	30	0.309278	1	0	0	0	0	1	0	0	0	--	--		0	A			PKHD1_uc003pai.2_Missense_Mutation_p.A134V	189	GBM-27-1830-TP	p.A134V	G	GGGTGTCTGCGCCTTGGAAAA	NM_138694	NP_619639	51941121	P08F94	PKHD1_HUMAN	0			6	677	-	A	A	Lung NSC(77;0.0605)		Missense_Mutation	134			Extracellular (Potential).			
PKHD1	0	broad.mit.edu	GRCh37	6	51523917	51523917	+	synonymous_variant	Silent	SNP	C	C	T	rs142855690	by1000genomes	TCGA-27-1833-01	TCGA-27-1833-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371117.3:c.11007G>A	p.Ser3669=	p.S3669=	ENST00000371117	NM_138694.3	3669	tcG/tcA	0	T:0	T:0	1	T:0		T	S	uc003pah.1	protein_coding	YES	CCDS4935.1			11007/12225									lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	c.(11005-11007)TCG>TCA			hmmpanther:PTHR11915:SF230,hmmpanther:PTHR11915	fibrocystin isoform 1		T:0	T:0.0002	ENSP00000360158	T:0.001	61/67	8.24E-05		8.72E-05			0.00012		6.06E-05	rs142855690,COSM3374325	61/67	.		ENST00000371117	Transcript	1	T:0.0002	cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	ENSG00000170927	g.chr6:51523917C>T	9016			LOW								--	--	1																																			0,1	1			p.S3669S	NM_138694	NP_619639	T:0		0,1	PKHD1_HUMAN	PKHD1	HGNC	P08F94	PKHD1_HUMAN					61	11283	-	Lung NSC(77;0.0605)		UPI000013C4C0	3669			Extracellular (Potential).		SNV	PKHD1,synonymous_variant,p.=,ENST00000371117,NM_138694.3;	uc003pah.1	c.11007G>A	11283/16282	1	1			c.11007G>A						6	SNP	c.(11005-11007)TCG>TCA	13	13			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Broad	fibrocystin isoform 1			51523917		0.423	ENSG00000170927	11774	g.chr6:51523917C>T	cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity		p.S3669S(NCIH1793-Tumor)|p.S3669S(TE9-Tumor)	1537		p.S3669S(NCIH1793-Tumor)|p.S3669S(TE9-Tumor)	1537	29.597849	KEEP	14	13	-1	111	102	14	13	-1	61.375567	111	102	0.117647	1	0	0	0	0	0	0	1	0	--	--		0	T				192	GBM-27-1833-TP	p.S3669S	C	TTACTGTTGGCGAATCACCAA	NM_138694	NP_619639	51523917	P08F94	PKHD1_HUMAN	0			61	11283	-	T	T	Lung NSC(77;0.0605)		Silent	3669			Extracellular (Potential).			
PKHD1	0	broad.mit.edu	GRCh37	6	51910930	51910930	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2519-01	TCGA-27-2519-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371117.3:c.2464G>A	p.Asp822Asn	p.D822N	ENST00000371117	NM_138694.3	822	Gat/Aat	0	T:0		1			T	D/N	uc003pah.1	protein_coding	YES	CCDS4935.1			2464/12225									lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	c.(2464-2466)GAT>AAT				fibrocystin isoform 1			T:0.0001	ENSP00000360158		24/67	1.65E-05	9.61E-05				1.50E-05			rs370436973,COSM3354798,COSM3354799	24/67	.		ENST00000371117	Transcript	1		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	ENSG00000170927	g.chr6:51910930C>T	9016			MODERATE		2.35	medium	getma.org/?cm=msa&ty=f&p=PKHD1_HUMAN&rb=734&re=930&var=D822N	NA	getma.org/?cm=var&var=hg19,6,51910930,C,T&fts=all	D822N	--	--	1																																		PKHD1_uc003pai.2_Missense_Mutation_p.D822N	0,1,1	1		probably_damaging(0.992)	p.D822N	NM_138694	NP_619639		deleterious(0.01)	0,1,1	PKHD1_HUMAN	PKHD1	HGNC	P08F94	PKHD1_HUMAN					24	2740	-	Lung NSC(77;0.0605)		UPI000013C4C0	822			Extracellular (Potential).		SNV	PKHD1,missense_variant,p.Asp822Asn,ENST00000371117,NM_138694.3;PKHD1,missense_variant,p.Asp822Asn,ENST00000340994,NM_170724.2;	uc003pah.1	c.2464G>A	2740/16282	2	2			c.2464G>A						6	SNP	c.(2464-2466)GAT>AAT	48	48			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Broad	fibrocystin isoform 1			51910930		0.443	ENSG00000170927	11774	g.chr6:51910930C>T	cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			1537			1537	240.840473	KEEP	49	49	-1	92	100	49	49	-1	248.121099	92	100	0.321705	1	0	0	0	0	1	0	0	0	--	--		0	T			PKHD1_uc003pai.2_Missense_Mutation_p.D822N	199	GBM-27-2519-TP	p.D822N	C	GTGAAGTCATCGGCATTATTC	NM_138694	NP_619639	51910930	P08F94	PKHD1_HUMAN	0			24	2740	-	T	T	Lung NSC(77;0.0605)		Missense_Mutation	822			Extracellular (Potential).			
PKHD1	0	broad.mit.edu	GRCh37	6	51890856	51890856	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-4929-01	TCGA-76-4929-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371117.3:c.3752C>A	p.Thr1251Asn	p.T1251N	ENST00000371117	NM_138694.3	1251	aCc/aAc	0			1			T	T/N	uc003pah.1	protein_coding	YES	CCDS4935.1			3752/12225									lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	c.(3751-3753)ACC>AAC			Pfam_domain:PF01833,Gene3D:2.60.40.10,SMART_domains:SM00429,Superfamily_domains:SSF81296	fibrocystin isoform 1				ENSP00000360158		32/67									COSM3411181,COSM3411182	32/67	.		ENST00000371117	Transcript	1		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	ENSG00000170927	g.chr6:51890856G>T	9016			MODERATE		3.14	medium	getma.org/?cm=msa&ty=f&p=PKHD1_HUMAN&rb=1197&re=1283&var=T1251N	NA	getma.org/?cm=var&var=hg19,6,51890856,G,T&fts=all	T1251N	--	--	1																																		PKHD1_uc003pai.2_Missense_Mutation_p.T1251N	1,1	1		probably_damaging(0.998)	p.T1251N	NM_138694	NP_619639		deleterious(0)	1,1	PKHD1_HUMAN	PKHD1	HGNC	P08F94	PKHD1_HUMAN					32	4028	-	Lung NSC(77;0.0605)		UPI000013C4C0	1251			Extracellular (Potential).|IPT/TIG 7.		SNV	PKHD1,missense_variant,p.Thr1251Asn,ENST00000371117,NM_138694.3;PKHD1,missense_variant,p.Thr1251Asn,ENST00000340994,NM_170724.2;	uc003pah.1	c.3752C>A	4028/16282	2	2			c.3752C>A						6	SNP	c.(3751-3753)ACC>AAC	20	20			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Broad	fibrocystin isoform 1			51890856		0.597	ENSG00000170927	11774	g.chr6:51890856G>T	cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			1537			1537	87.433346	KEEP	15	20	0.428571429	33	38	15	20	0.428571429	89.166486	33	38	0.354839	1	0	0	0	0	1	0	0	0	--	--		0	T			PKHD1_uc003pai.2_Missense_Mutation_p.T1251N	269	GBM-76-4929-TP	p.T1251N	G	GGCTGGCAGGGTTTCACACCA	NM_138694	NP_619639	51890856	P08F94	PKHD1_HUMAN	0			32	4028	-	T	T	Lung NSC(77;0.0605)		Missense_Mutation	1251			Extracellular (Potential).|IPT/TIG 7.			
PKHD1	5314		GRCh37	6	51777281	51777281	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000371117.3:c.6215C>A	p.Pro2072His	p.P2072H	ENST00000371117	NM_138694.3	2072	cCt/cAt	0																																																																																																																																																																																																																																												
PKHD1	5314		GRCh37	6	51947232	51947232	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000371117.3:c.239T>C	p.Phe80Ser	p.F80S	ENST00000371117	NM_138694.3	80	tTt/tCt	0																																																																																																																																																																																																																																												
PKHD1	5314		GRCh37	6	51491840	51491840	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000371117.3:c.11740C>T	p.Arg3914Ter	p.R3914*	ENST00000371117	NM_138694.3	3914	Cga/Tga	0																																																																																																																																																																																																																																												
PKHD1	5314		GRCh37	6	51918008	51918008	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000371117.3:c.2006G>A	p.Arg669His	p.R669H	ENST00000371117	NM_138694.3	669	cGt/cAt	0																																																																																																																																																																																																																																												
PKHD1	5314		GRCh37	6	51941107	51941107	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000371117.3:c.415G>A	p.Val139Ile	p.V139I	ENST00000371117	NM_138694.3	139	Gtt/Att	0																																																																																																																																																																																																																																												
PKHD1L1	93035	broad.mit.edu	GRCh37	8	110476724	110476724	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01	TCGA-06-0645-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378402.5:c.7663G>A	p.Asp2555Asn	p.D2555N	ENST00000378402	NM_177531.4	2555	Gat/Aat	0			1			A	D/N	uc003yne.2	protein_coding	YES	CCDS47911.1			7663/12732									ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14	c.(7663-7665)GAT>AAT			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF213	fibrocystin L precursor				ENSP00000367655		49/78									COSM603532	49/78	.		ENST00000378402	Transcript			immune response	cytosol|extracellular space|integral to membrane	receptor activity	ENSG00000205038	g.chr8:110476724G>A	20313			MODERATE		3.145	medium	getma.org/?cm=msa&ty=f&p=PKHL1_HUMAN&rb=2505&re=2704&var=D2555N	NA	getma.org/?cm=var&var=hg19,8,110476724,G,A&fts=all	D2555N	--	--	1				HNSCC(38;0.096)																															1	1		probably_damaging(0.968)	p.D2555N	NM_177531	NP_803875		deleterious(0)	1	PKHL1_HUMAN	PKHD1L1	HGNC	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)				49	7767	+			UPI0000E5B020	2555			Extracellular (Potential).		SNV	PKHD1L1,missense_variant,p.Asp2555Asn,ENST00000378402,NM_177531.4;	uc003yne.2	c.7663G>A	7767/13076	2	2			c.7663G>A						8	SNP	c.(7663-7665)GAT>AAT	17	17			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14	Broad	fibrocystin L precursor			110476724		0.443	ENSG00000205038	11775	g.chr8:110476724G>A	immune response	cytosol|extracellular space|integral to membrane	receptor activity							49.688632	KEEP	11	11	-1	27	29	11	11	-1	52.669578	27	29	0.279412	1	0	0	0	0	1	0	0	0	--	--	HNSCC(38;0.096)	0	A				59	GBM-06-0645-TP	p.D2555N	G	TCTTCTGAATGATGATGTGAC	NM_177531	NP_803875	110476724	Q86WI1	PKHL1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		49	7767	+	A	A			Missense_Mutation	2555			Extracellular (Potential).			
PKHD1L1	0	broad.mit.edu	GRCh37	8	110463211	110463211	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-19-4068-01	TCGA-19-4068-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378402.5:c.6183A>T	p.Gly2061=	p.G2061=	ENST00000378402	NM_177531.4	2061	ggA/ggT	0			1			T	G	uc003yne.2	protein_coding	YES	CCDS47911.1			6183/12732									ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14	c.(6181-6183)GGA>GGT			Gene3D:2.60.40.10,Pfam_domain:PF01833,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF213,SMART_domains:SM00429,Superfamily_domains:SSF81296	fibrocystin L precursor				ENSP00000367655		41/78									COSM3412681	41/78	.		ENST00000378402	Transcript			immune response	cytosol|extracellular space|integral to membrane	receptor activity	ENSG00000205038	g.chr8:110463211A>T	20313			LOW								--	--	1				HNSCC(38;0.096)																												OREG0018931	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1	1			p.G2061G	NM_177531	NP_803875			1	PKHL1_HUMAN	PKHD1L1	HGNC	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)				41	6287	+			UPI0000E5B020	2061			Extracellular (Potential).|IPT/TIG 13.		SNV	PKHD1L1,synonymous_variant,p.=,ENST00000378402,NM_177531.4;	uc003yne.2	c.6183A>T	6287/13076	2	2			c.6183A>T						8	SNP	c.(6181-6183)GGA>GGT	26	26			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14	Broad	fibrocystin L precursor			110463211		0.458	ENSG00000205038	11775	g.chr8:110463211A>T	immune response	cytosol|extracellular space|integral to membrane	receptor activity							99.341053	KEEP	22	16	-1	20	24	22	16	-1	99.415643	20	24	0.465753	1	0	0	0	0	0	0	1	0	--	--	HNSCC(38;0.096)	0	T	OREG0018931	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		168	GBM-19-4068-TP	p.G2061G	A	TAGGCACGGGAGCTGAGCAAG	NM_177531	NP_803875	110463211	Q86WI1	PKHL1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		41	6287	+	T	T			Silent	2061			Extracellular (Potential).|IPT/TIG 13.			
PKHD1L1	0	broad.mit.edu	GRCh37	8	110424605	110424605	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5950-01	TCGA-19-5950-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378402.5:c.2197C>T	p.Arg733Ter	p.R733*	ENST00000378402	NM_177531.4	733	Cga/Tga	0			1			T	R/*	uc003yne.2	protein_coding	YES	CCDS47911.1			2197/12732									ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14	c.(2197-2199)CGA>TGA				fibrocystin L precursor				ENSP00000367655		20/78	1.66E-05		9.50E-05			1.61E-05			rs774262365,COSM3412678	20/78	.		ENST00000378402	Transcript			immune response	cytosol|extracellular space|integral to membrane	receptor activity	ENSG00000205038	g.chr8:110424605C>T	20313			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,8,110424605,C,T&fts=all	R733*	--	--	1				HNSCC(38;0.096)																															0,1	1			p.R733*	NM_177531	NP_803875			0,1	PKHL1_HUMAN	PKHD1L1	HGNC	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)				20	2301	+			UPI0000E5B020	733			Extracellular (Potential).		SNV	PKHD1L1,stop_gained,p.Arg733Ter,ENST00000378402,NM_177531.4;	uc003yne.2	c.2197C>T	2301/13076	5	1			c.2197C>T						8	SNP	c.(2197-2199)CGA>TGA	8	8			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14	Broad	fibrocystin L precursor			110424605		0.368	ENSG00000205038	11775	g.chr8:110424605C>T	immune response	cytosol|extracellular space|integral to membrane	receptor activity							37.672166	KEEP	8	6	-1	10	10	8	6	-1	37.995556	10	10	0.393939	1	0	0	0	0	0	1	0	0	--	--	HNSCC(38;0.096)	0	T				170	GBM-19-5950-TP	p.R733*	C	ACCAAACAGACGACCATATGG	NM_177531	NP_803875	110424605	Q86WI1	PKHL1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		20	2301	+	T	T			Nonsense_Mutation	733			Extracellular (Potential).			
PKHD1L1	0	broad.mit.edu	GRCh37	8	110497284	110497284	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378402.5:c.9588G>A	p.Glu3196=	p.E3196=	ENST00000378402	NM_177531.4	3196	gaG/gaA	0			1			A	E	uc003yne.2	protein_coding	YES	CCDS47911.1			9588/12732									ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14	c.(9586-9588)GAG>GAA			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF213	fibrocystin L precursor				ENSP00000367655		58/78									COSM3412683	58/78	.		ENST00000378402	Transcript			immune response	cytosol|extracellular space|integral to membrane	receptor activity	ENSG00000205038	g.chr8:110497284G>A	20313			LOW								--	--	1				HNSCC(38;0.096)																															1	1			p.E3196E	NM_177531	NP_803875			1	PKHL1_HUMAN	PKHD1L1	HGNC	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)				58	9692	+			UPI0000E5B020	3196			Extracellular (Potential).		SNV	PKHD1L1,synonymous_variant,p.=,ENST00000378402,NM_177531.4;PKHD1L1,synonymous_variant,p.=,ENST00000526472,;	uc003yne.2	c.9588G>A	9692/13076	2	2			c.9588G>A						8	SNP	c.(9586-9588)GAG>GAA	48	48			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14	Broad	fibrocystin L precursor			110497284		0.284	ENSG00000205038	11775	g.chr8:110497284G>A	immune response	cytosol|extracellular space|integral to membrane	receptor activity							42.460456	KEEP	6	10	-1	36	22	6	10	-1	47.571404	36	22	0.222222	1	0	0	0	0	0	0	1	0	--	--	HNSCC(38;0.096)	0	A				213	GBM-28-2513-TP	p.E3196E	G	AGGGAGAAGAGATTGTGATAA	NM_177531	NP_803875	110497284	Q86WI1	PKHL1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		58	9692	+	A	A			Silent	3196			Extracellular (Potential).			
PKHD1L1	0	broad.mit.edu	GRCh37	8	110454293	110454293	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-41-5651-01	TCGA-41-5651-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378402.5:c.4262C>A	p.Thr1421Lys	p.T1421K	ENST00000378402	NM_177531.4	1421	aCa/aAa	0			1			A	T/K	uc003yne.2	protein_coding	YES	CCDS47911.1			4262/12732									ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14	c.(4261-4263)ACA>AAA			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF213,Superfamily_domains:SSF49503	fibrocystin L precursor				ENSP00000367655		35/78									COSM3412679	35/78	.		ENST00000378402	Transcript			immune response	cytosol|extracellular space|integral to membrane	receptor activity	ENSG00000205038	g.chr8:110454293C>A	20313			MODERATE		1.745	low	getma.org/?cm=msa&ty=f&p=PKHL1_HUMAN&rb=1330&re=1469&var=T1421K	NA	getma.org/?cm=var&var=hg19,8,110454293,C,A&fts=all	T1421K	--	--	1				HNSCC(38;0.096)																															1	1		benign(0.05)	p.T1421K	NM_177531	NP_803875		tolerated(0.22)	1	PKHL1_HUMAN	PKHD1L1	HGNC	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)				35	4366	+			UPI0000E5B020	1421			Extracellular (Potential).|IPT/TIG 7.		SNV	PKHD1L1,missense_variant,p.Thr1421Lys,ENST00000378402,NM_177531.4;	uc003yne.2	c.4262C>A	4366/13076	2	2			c.4262C>A						8	SNP	c.(4261-4263)ACA>AAA	46	46			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14	Broad	fibrocystin L precursor			110454293		0.418	ENSG00000205038	11775	g.chr8:110454293C>A	immune response	cytosol|extracellular space|integral to membrane	receptor activity							85.749248	KEEP	23	11	0.323529412	11	19	23	11	0.323529412	85.749248	11	19	0.5	1	0	0	0	0	1	0	0	0	--	--	HNSCC(38;0.096)	0	A				258	GBM-41-5651-TP	p.T1421K	C	GTGGGGGACACAGTGGCATGG	NM_177531	NP_803875	110454293	Q86WI1	PKHL1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		35	4366	+	A	A			Missense_Mutation	1421			Extracellular (Potential).|IPT/TIG 7.			
PKLR	5313		GRCh37	1	155264053	155264053	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000342741.4:c.1089G>A	p.Ala363=	p.A363=	ENST00000342741	NM_000298.5	363	gcG/gcA	0																																																																																																																																																																																																																																												
PKN1	5585	broad.mit.edu	GRCh37	19	14574778	14574778	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01	TCGA-06-0126-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342216.4:c.1652C>T	p.Thr551Met	p.T551M	ENST00000342216	NM_213560.1	551	aCg/aTg	0			1			T	T/M	uc002myp.2	protein_coding		CCDS42513.1			1634/2829									ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8	c.(1633-1635)ACG>ATG			hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF69	protein kinase N1 isoform 2				ENSP00000242783		22-Nov	2.48E-05					1.52E-05		0.000121	rs772324227,COSM3403829,COSM3403828	22-Nov	.		ENST00000242783	Transcript			activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	ENSG00000123143	g.chr19:14574778C>T	9405			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=PKN1_HUMAN&rb=486&re=614&var=T545M	NA	getma.org/?cm=var&var=hg19,19,14574778,C,T&fts=all	T545M	--	--	1																																		PKN1_uc002myq.2_Missense_Mutation_p.T551M	0,1,1			benign(0.006)	p.T545M	NM_002741	NP_002732		tolerated(0.21)	0,1,1	PKN1_HUMAN	PKN1	HGNC	Q16512	PKN1_HUMAN					11	1802	+			UPI000013CB15	545					SNV	PKN1,missense_variant,p.Thr545Met,ENST00000242783,NM_002741.3;PKN1,missense_variant,p.Thr551Met,ENST00000342216,NM_213560.1;PKN1,missense_variant,p.Thr31Met,ENST00000586237,;CTC-548K16.6,downstream_gene_variant,,ENST00000589702,;PKN1,non_coding_transcript_exon_variant,,ENST00000585839,;PKN1,non_coding_transcript_exon_variant,,ENST00000586900,;PKN1,upstream_gene_variant,,ENST00000591461,;PKN1,upstream_gene_variant,,ENST00000587215,;	uc002myp.2	c.1634C>T	1799/3069	2	2			c.1634C>T						19	SNP	c.(1633-1635)ACG>ATG	24	24			ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8	Broad	protein kinase N1 isoform 2			14574778		0.672	ENSG00000123143	11782	g.chr19:14574778C>T	activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	NSCLC(185;2539 2965 10733 52867)		331	NSCLC(185;2539 2965 10733 52867)		331	-17.573638	KEEP	1	3	-1	61	50	1	3	-1	7.205567	61	50	0.037383	1	0	0	0	0	1	0	0	0	--	--		0	T			PKN1_uc002myq.2_Missense_Mutation_p.T551M	13	GBM-06-0126-TP	p.T545M	C	GCCCGGACCACGGGGTAAGGA	NM_002741	NP_002732	14574778	Q16512	PKN1_HUMAN	0			11	1802	+	T	T			Missense_Mutation	545						
PKN2	0	broad.mit.edu	GRCh37	1	89294277	89294277	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-08-0386-01	TCGA-08-0386-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370521.3:c.2533G>A	p.Val845Met	p.V845M	ENST00000370521	NM_006256.2	845	Gtg/Atg	0			1			A	V/M	uc001dmn.2	protein_coding	YES	CCDS714.1			2533/2955									large_intestine(1)|lung(1)|skin(1)	3	c.(2533-2535)GTG>ATG			Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF76,SMART_domains:SM00220,Superfamily_domains:SSF56112	protein kinase N2				ENSP00000359552		19/22									COSM3401068,COSM3401069	19/22	.		ENST00000370521	Transcript			signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	ENSG00000065243	g.chr1:89294277G>A	9406			MODERATE		2.575	medium	getma.org/?cm=msa&ty=f&p=PKN2_HUMAN&rb=657&re=916&var=V845M	getma.org/pdb.php?prot=PKN2_HUMAN&from=657&to=916&var=V845M	getma.org/?cm=var&var=hg19,1,89294277,G,A&fts=all	V845M	--	--	1																																		PKN2_uc010osp.1_Missense_Mutation_p.V829M|PKN2_uc010osq.1_Missense_Mutation_p.V688M|PKN2_uc009wcv.2_Missense_Mutation_p.V797M|PKN2_uc010osr.1_Missense_Mutation_p.V510M	1,1	1		probably_damaging(0.982)	p.V845M	NM_006256	NP_006247		deleterious(0)	1,1	PKN2_HUMAN	PKN2	HGNC	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	Q6P5W9_HUMAN		19	2875	+		Lung NSC(277;0.123)	UPI000004D291	845			Protein kinase.		SNV	PKN2,missense_variant,p.Val845Met,ENST00000370521,NM_006256.2;PKN2,missense_variant,p.Val688Met,ENST00000370505,;PKN2,missense_variant,p.Val797Met,ENST00000370513,;PKN2,missense_variant,p.Val519Met,ENST00000544045,;PKN2,missense_variant,p.Val53Met,ENST00000449189,;PKN2,upstream_gene_variant,,ENST00000495119,;TCEB1P19,upstream_gene_variant,,ENST00000411919,;	uc001dmn.2	c.2533G>A	2892/6121	1	1			c.2533G>A						1	SNP	c.(2533-2535)GTG>ATG	50	50			large_intestine(1)|lung(1)|skin(1)	3	Broad	protein kinase N2			89294277		0.383	ENSG00000065243	11783	g.chr1:89294277G>A	signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			455			455	-2.248508	KEEP	5	3	-1	40	54	5	3	-1	15.22609	40	54	0.074468	1	0	0	0	0	1	0	0	0	--	--		0	A			PKN2_uc010osp.1_Missense_Mutation_p.V829M|PKN2_uc010osq.1_Missense_Mutation_p.V688M|PKN2_uc009wcv.2_Missense_Mutation_p.V797M|PKN2_uc010osr.1_Missense_Mutation_p.V510M	116	GBM-08-0386-TP	p.V845M	G	GGGCCTTGGCGTGCTTATATA	NM_006256	NP_006247	89294277	Q16513	PKN2_HUMAN	0		all cancers(265;0.0136)|Epithelial(280;0.0301)	19	2875	+	A	A		Lung NSC(277;0.123)	Missense_Mutation	845			Protein kinase.			
PKN3	0	broad.mit.edu	GRCh37	9	131476566	131476566	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5211-01	TCGA-28-5211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000291906.4:c.1403C>T	p.Pro468Leu	p.P468L	ENST00000291906	NM_013355.3	468	cCg/cTg	0	T:0	T:0	1	T:0		T	P/L	uc004bvw.2	protein_coding	YES	CCDS6908.1			1403/2670									stomach(2)|lung(2)	4	c.(1402-1404)CCG>CTG			hmmpanther:PTHR24357:SF53,hmmpanther:PTHR24357,Low_complexity_(Seg):seg	protein kinase PKNbeta		T:0.001	T:0.0001	ENSP00000291906	T:0	22-Nov	9.88E-05		0.000346	0.000231		9.04E-05			rs370634438,COSM3327622	22-Nov	.		ENST00000291906	Transcript		T:0.0002	signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity	ENSG00000160447	g.chr9:131476566C>T	17999			MODERATE		1.265	low	getma.org/?cm=msa&ty=f&p=PKN3_HUMAN&rb=451&re=558&var=P468L	NA	getma.org/?cm=var&var=hg19,9,131476566,C,T&fts=all	P468L	--	--	1																																		PKN3_uc010myh.2_Missense_Mutation_p.P468L|PKN3_uc011mbk.1_Missense_Mutation_p.P18L	0,1	1		benign(0.062)	p.P468L	NM_013355	NP_037487	T:0	tolerated(0.76)	0,1	PKN3_HUMAN	PKN3	HGNC	Q6P5Z2	PKN3_HUMAN			Q05BU1_HUMAN		11	1796	+			UPI000013E087	468			Pro-rich.		SNV	PKN3,missense_variant,p.Pro468Leu,ENST00000291906,NM_013355.3;RN7SL560P,downstream_gene_variant,,ENST00000577943,;PKN3,intron_variant,,ENST00000483521,;PKN3,upstream_gene_variant,,ENST00000485301,;	uc004bvw.2	c.1403C>T	1796/3375	1	1			c.1403C>T						9	SNP	c.(1402-1404)CCG>CTG	3	3			stomach(2)|lung(2)	4	Broad	protein kinase PKNbeta			131476566		0.652	ENSG00000160447	11784	g.chr9:131476566C>T	signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity		p.P468L(HS739.T-Tumor)	307		p.P468L(HS739.T-Tumor)	307	37.316713	KEEP	8	13	-1	28	21	8	13	-1	39.044763	28	21	0.315789	1	0	0	0	0	1	0	0	0	--	--		0	T			PKN3_uc010myh.2_Missense_Mutation_p.P468L|PKN3_uc011mbk.1_Missense_Mutation_p.P18L	219	GBM-28-5211-TP	p.P468L	C	TGCAGCTCCCCGAGCACAATC	NM_013355	NP_037487	131476566	Q6P5Z2	PKN3_HUMAN	0			11	1796	+	T	T			Missense_Mutation	468			Pro-rich.			
PKN3	29941		GRCh37	9	131482499	131482499	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000291906.4:c.2394G>A	p.Pro798=	p.P798=	ENST00000291906	NM_013355.3	798	ccG/ccA	0																																																																																																																																																																																																																																												
PKNOX1	5316	broad.mit.edu	GRCh37	21	44437070	44437070	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01	TCGA-06-0185-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000291547.5:c.575C>T	p.Pro192Leu	p.P192L	ENST00000291547	NM_004571.3	192	cCg/cTg	0			1			T	P/L	uc002zcq.1	protein_coding	YES	CCDS13692.1			575/1311									large_intestine(2)	2	c.(574-576)CCG>CTG			hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF80	PBX/knotted 1 homeobox 1				ENSP00000291547		11-Jun									COSM2150515,COSM3405431	11-Jun	.		ENST00000291547	Transcript					sequence-specific DNA binding	ENSG00000160199	g.chr21:44437070C>T	9022			MODERATE		1.955	medium	getma.org/?cm=msa&ty=f&p=PKNX1_HUMAN&rb=1&re=200&var=P192L	NA	getma.org/?cm=var&var=hg19,21,44437070,C,T&fts=all	P192L	--	--	1																																		PKNOX1_uc002zcp.1_Missense_Mutation_p.P192L|PKNOX1_uc011aex.1_Missense_Mutation_p.P75L|PKNOX1_uc002zcr.2_Missense_Mutation_p.P192L	1,1	1		benign(0.066)	p.P192L	NM_004571	NP_004562		deleterious(0.03)	1,1	PKNX1_HUMAN	PKNOX1	HGNC	P55347	PKNX1_HUMAN			Q96I87_HUMAN,E7EPN6_HUMAN		6	763	+			UPI000000D8D4	192					SNV	PKNOX1,missense_variant,p.Pro192Leu,ENST00000291547,NM_004571.3;PKNOX1,missense_variant,p.Pro75Leu,ENST00000432907,NM_001286258.1;PKNOX1,upstream_gene_variant,,ENST00000557820,;PKNOX1,3_prime_UTR_variant,,ENST00000560448,;PKNOX1,non_coding_transcript_exon_variant,,ENST00000480179,;PKNOX1,upstream_gene_variant,,ENST00000607049,;PKNOX1,upstream_gene_variant,,ENST00000474336,;	uc002zcq.1	c.575C>T	786/5002	2	2			c.575C>T						21	SNP	c.(574-576)CCG>CTG	29	29			large_intestine(2)	2	Broad	PBX/knotted 1 homeobox 1			44437070		0.502	ENSG00000160199	11785	g.chr21:44437070C>T			sequence-specific DNA binding							76.175995	KEEP	13	19	-1	40	31	13	19	-1	78.117525	40	31	0.337349	1	0	0	0	0	1	0	0	0	--	--		0	T			PKNOX1_uc002zcp.1_Missense_Mutation_p.P192L|PKNOX1_uc011aex.1_Missense_Mutation_p.P75L|PKNOX1_uc002zcr.2_Missense_Mutation_p.P192L	40	GBM-06-0185-TP	p.P192L	C	ATTGTGGTGCCGGCGTCCGCG	NM_004571	NP_004562	44437070	P55347	PKNX1_HUMAN	0			6	763	+	T	T			Missense_Mutation	192						
PKNOX2	0	broad.mit.edu	GRCh37	11	125255470	125255470	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1829-01	TCGA-14-1829-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298282.9:c.251C>T	p.Thr84Met	p.T84M	ENST00000298282	NM_022062.2	84	aCg/aTg	0	T:0.0002	T:0	1	T:0		T	T/M	uc001qbu.2	protein_coding	YES	CCDS41730.1			251/1419									ovary(3)	3	c.(250-252)ACG>ATG			hmmpanther:PTHR11850:SF53,hmmpanther:PTHR11850	PBX/knotted 1 homeobox 2		T:0	T:0.0019	ENSP00000298282	T:0.001	13-Jun	0.00173	0.000102	0.000259	0.000232	0.000605	0.00291	0.00112	0.000246	rs201383194,COSM3397521	13-Jun	common_variant		ENST00000298282	Transcript		T:0.0002		nucleus	sequence-specific DNA binding transcription factor activity	ENSG00000165495	g.chr11:125255470C>T	16714			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=PKNX2_HUMAN&rb=1&re=200&var=T84M	NA	getma.org/?cm=var&var=hg19,11,125255470,C,T&fts=all	T84M	--	--	1																																		PKNOX2_uc010saz.1_Missense_Mutation_p.T55M|PKNOX2_uc010sba.1_Missense_Mutation_p.T55M|PKNOX2_uc010sbb.1_Missense_Mutation_p.T20M	0,1	1		possibly_damaging(0.608)	p.T84M	NM_022062	NP_071345	T:0	deleterious(0)	0,1	PKNX2_HUMAN	PKNOX2	HGNC	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	H0YLX0_HUMAN,E9PRB6_HUMAN,E9PKL2_HUMAN,B7ZAF3_HUMAN		6	565	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	UPI000023271E	84					SNV	PKNOX2,missense_variant,p.Thr84Met,ENST00000298282,NM_022062.2;PKNOX2,missense_variant,p.Thr20Met,ENST00000542175,;PKNOX2,missense_variant,p.Thr84Met,ENST00000558705,;PKNOX2,non_coding_transcript_exon_variant,,ENST00000530517,;PKNOX2,non_coding_transcript_exon_variant,,ENST00000531116,;PKNOX2,intron_variant,,ENST00000558729,;PKNOX2,intron_variant,,ENST00000559662,;PKNOX2,intron_variant,,ENST00000557814,;PKNOX2,synonymous_variant,p.=,ENST00000532623,;PKNOX2,non_coding_transcript_exon_variant,,ENST00000561298,;PKNOX2,upstream_gene_variant,,ENST00000526955,;	uc001qbu.2	c.251C>T	522/3687	2	2			c.251C>T						11	SNP	c.(250-252)ACG>ATG	20	20			ovary(3)	3	Broad	PBX/knotted 1 homeobox 2			125255470		0.567	ENSG00000165495	11786	g.chr11:125255470C>T		nucleus	sequence-specific DNA binding transcription factor activity							-27.126839	KEEP	5	4	-1	99	106	5	4	-1	13.635682	99	106	0.039326	1	0	0	0	0	1	0	0	0	--	--		0	T			PKNOX2_uc010saz.1_Missense_Mutation_p.T55M|PKNOX2_uc010sba.1_Missense_Mutation_p.T55M|PKNOX2_uc010sbb.1_Missense_Mutation_p.T20M	149	GBM-14-1829-TP	p.T84M	C	CCGCTCCTGACGCTGCTGTTT	NM_022062	NP_071345	125255470	Q96KN3	PKNX2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	6	565	+	T	T		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	Missense_Mutation	84						
PKP1	0	broad.mit.edu	GRCh37	1	201289494	201289494	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-5214-01	TCGA-28-5214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263946.3:c.1395C>T	p.Ser465=	p.S465=	ENST00000263946	NM_000299.3	465	agC/agT	0			1			T	S	uc001gwd.2	protein_coding	YES	CCDS30966.1			1395/2244									ovary(2)	2	c.(1393-1395)AGC>AGT			Gene3D:1.25.10.10,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF3,SMART_domains:SM00185,Superfamily_domains:SSF48371	plakophilin 1 isoform 1b				ENSP00000263946		15-Aug									COSM3400205,COSM3400204	15-Aug	.		ENST00000263946	Transcript	1		cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis	ENSG00000081277	g.chr1:201289494C>T	9023			LOW								--	--	1																																		PKP1_uc001gwe.2_Silent_p.S444S|PKP1_uc009wzm.2_Silent_p.S52S	1,1	1			p.S465S	NM_000299	NP_000290			1,1	PKP1_HUMAN	PKP1	HGNC	Q13835	PKP1_HUMAN			B4DRX5_HUMAN		8	1646	+			UPI0000131B86	465					SNV	PKP1,synonymous_variant,p.=,ENST00000263946,NM_000299.3;PKP1,synonymous_variant,p.=,ENST00000367324,NM_001005337.2;PKP1,synonymous_variant,p.=,ENST00000352845,;PKP1,downstream_gene_variant,,ENST00000475988,;	uc001gwd.2	c.1395C>T	1646/5447	2	2			c.1395C>T						1	SNP	c.(1393-1395)AGC>AGT	24	24			ovary(2)	2	Broad	plakophilin 1 isoform 1b			201289494		0.612	ENSG00000081277	11787	g.chr1:201289494C>T	cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis							-4.812987	KEEP	2	1	-1	43	40	2	1	-1	6.403067	43	40	0.055556	1	0	0	0	0	0	0	1	0	--	--		0	T			PKP1_uc001gwe.2_Silent_p.S444S|PKP1_uc009wzm.2_Silent_p.S52S	221	GBM-28-5214-TP	p.S465S	C	TAGCGGCCAGCCGCTGTGACG	NM_000299	NP_000290	201289494	Q13835	PKP1_HUMAN	0			8	1646	+	T	T			Silent	465						
PKP2	5318	broad.mit.edu	GRCh37	12	33030958	33030958	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0189-01	TCGA-06-0189-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000070846.6:c.856T>G	p.Ser286Ala	p.S286A	ENST00000070846	NM_004572.3	286	Tcc/Gcc	0			1			C	S/A	uc001rlj.3	protein_coding	YES	CCDS8731.1			856/2646									ovary(1)|pancreas(1)	2	c.(856-858)TCC>GCC			Low_complexity_(Seg):seg,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF25	plakophilin 2 isoform 2b				ENSP00000070846		14-Mar									COSM3398678	14-Mar	.		ENST00000070846	Transcript	1		cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	ENSG00000057294	g.chr12:33030958A>C	9024			MODERATE		1.32	low	getma.org/?cm=msa&ty=f&p=PKP2_HUMAN&rb=269&re=383&var=S286A	NA	getma.org/?cm=var&var=hg19,12,33030958,A,C&fts=all	S286A	--	--	1																																		PKP2_uc001rlk.3_Missense_Mutation_p.S286A|PKP2_uc010skj.1_Missense_Mutation_p.S286A	1	1		benign(0.001)	p.S286A	NM_004572	NP_004563		tolerated(0.77)	1	PKP2_HUMAN	PKP2	HGNC	Q99959	PKP2_HUMAN					3	971	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		UPI000013C576	286					SNV	PKP2,missense_variant,p.Ser286Ala,ENST00000340811,NM_001005242.2;PKP2,missense_variant,p.Ser286Ala,ENST00000070846,NM_004572.3;	uc001rlj.3	c.856T>G	881/4241	3	3			c.856T>G						12	SNP	c.(856-858)TCC>GCC	50	50			ovary(1)|pancreas(1)	2	Broad	plakophilin 2 isoform 2b			33030958		0.652	ENSG00000057294	11788	g.chr12:33030958A>C	cell-cell adhesion	desmosome|integral to membrane|nucleus	binding							-12.947233	KEEP	4	0	-1	48	39	4	0	-1	7.282078	48	39	0.034884	1	0	0	0	0	1	0	0	0	--	--		0	C			PKP2_uc001rlk.3_Missense_Mutation_p.S286A|PKP2_uc010skj.1_Missense_Mutation_p.S286A	42	GBM-06-0189-TP	p.S286A	A	GAGGACCTGGAAGCCCTGTTC	NM_004572	NP_004563	33030958	Q99959	PKP2_HUMAN	0			3	971	-	C	C	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		Missense_Mutation	286						
PKP2	5318		GRCh37	12	32977045	32977045	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000070846.6:c.1740C>T	p.Asp580=	p.D580=	ENST00000070846	NM_004572.3	580	gaC/gaT	0																																																																																																																																																																																																																																												
PKP4	8502	broad.mit.edu	GRCh37	2	159519424	159519424	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01	TCGA-06-0174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389759.3:c.2227G>A	p.Val743Met	p.V743M	ENST00000389759	NM_003628.3	743	Gtg/Atg	0	A:0.0002		1			A	V/M	uc002tzv.2	protein_coding	YES	CCDS33305.1			2227/3579								p.V743M(1)	ovary(5)|skin(2)	7	c.(2227-2229)GTG>ATG			hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF8,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371	plakophilin 4 isoform a			A:0	ENSP00000374409		14/22	7.41E-05	9.67E-05	0.000173			3.01E-05		0.00025	rs374838936,COSM75964	14/22	.		ENST00000389759	Transcript			cell adhesion	desmosome	protein binding	ENSG00000144283	g.chr2:159519424G>A	9026			MODERATE		1.925	medium	getma.org/?cm=msa&ty=f&p=PKP4_HUMAN&rb=645&re=844&var=V743M	getma.org/pdb.php?prot=PKP4_HUMAN&from=645&to=844&var=V743M	getma.org/?cm=var&var=hg19,2,159519424,G,A&fts=all	V743M	--	--	1				HNSCC(62;0.18)																														PKP4_uc002tzt.1_Missense_Mutation_p.V595M|PKP4_uc002tzu.2_Missense_Mutation_p.V743M|PKP4_uc002tzw.2_Missense_Mutation_p.V743M|PKP4_uc002tzx.2_Missense_Mutation_p.V400M|PKP4_uc002tzy.1_Missense_Mutation_p.V401M|PKP4_uc002uaa.2_Missense_Mutation_p.V595M|uc002uab.1_Intron|PKP4_uc002uac.2_Translation_Start_Site	0,1	1		possibly_damaging(0.833)	p.V743M	NM_003628	NP_003619		deleterious(0.03)	0,1	PKP4_HUMAN	PKP4	HGNC	Q99569	PKP4_HUMAN			Q53TM5_HUMAN		14	2487	+			UPI000044D379	743			ARM 6.		SNV	PKP4,missense_variant,p.Val743Met,ENST00000389757,NM_001005476.1;PKP4,missense_variant,p.Val743Met,ENST00000389759,NM_003628.3;AC005042.4,intron_variant,,ENST00000342892,;PKP4,upstream_gene_variant,,ENST00000495123,;PKP4,3_prime_UTR_variant,,ENST00000426248,;PKP4,3_prime_UTR_variant,,ENST00000421462,;PKP4,3_prime_UTR_variant,,ENST00000452162,;PKP4,non_coding_transcript_exon_variant,,ENST00000480171,;PKP4,downstream_gene_variant,,ENST00000492496,;PKP4,upstream_gene_variant,,ENST00000483881,;	uc002tzv.2	c.2227G>A	2339/4443	2	2			c.2227G>A						2	SNP	c.(2227-2229)GTG>ATG	48	48		p.V743M(1)	ovary(5)|skin(2)	7	Broad	plakophilin 4 isoform a			159519424		0.498	ENSG00000144283	11790	g.chr2:159519424G>A	cell adhesion	desmosome	protein binding							98.983845	KEEP	32	22	-1	42	34	32	22	-1	100.120559	42	34	0.376471	1	0	0	0	0	1	0	0	0	--	--	HNSCC(62;0.18)	0	A			PKP4_uc002tzt.1_Missense_Mutation_p.V595M|PKP4_uc002tzu.2_Missense_Mutation_p.V743M|PKP4_uc002tzw.2_Missense_Mutation_p.V743M|PKP4_uc002tzx.2_Missense_Mutation_p.V400M|PKP4_uc002tzy.1_Missense_Mutation_p.V401M|PKP4_uc002uaa.2_Missense_Mutation_p.V595M|uc002uab.1_Intron|PKP4_uc002uac.2_Translation_Start_Site	37	GBM-06-0174-TP	p.V743M	G	GGAGAACTGCGTGTGCACCCT	NM_003628	NP_003619	159519424	Q99569	PKP4_HUMAN	0			14	2487	+	A	A			Missense_Mutation	743			ARM 6.			
PLA1A	51365		GRCh37	3	119316815	119316815	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000273371.4:c.55C>G	p.Leu19Val	p.L19V	ENST00000273371	NM_015900.3	19	Ctc/Gtc	0																																																																																																																																																																																																																																												
PLA2G15	0	broad.mit.edu	GRCh37	16	68288909	68288909	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0692-01	TCGA-12-0692-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000219345.5:c.372G>A	p.Leu124=	p.L124=	ENST00000219345	NM_012320.3	124	ctG/ctA	0			1			A	L	uc002evr.2	protein_coding	YES	CCDS10864.1			372/1239									ovary(1)	1	c.(370-372)CTG>CTA			Pfam_domain:PF02450,hmmpanther:PTHR11440,hmmpanther:PTHR11440:SF47	lysophospholipase 3 (lysosomal phospholipase A2)				ENSP00000219345		6-Mar									COSM2154262	6-Mar	.		ENST00000219345	Transcript			fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding	ENSG00000103066	g.chr16:68288909G>A	17163			LOW								--	--	1																																		PLA2G15_uc010vld.1_Silent_p.L124L|PLA2G15_uc010vle.1_Nonsense_Mutation_p.W72*|PLA2G15_uc010vlf.1_Intron|PLA2G15_uc002evs.2_5'UTR	1	1			p.L124L	NM_012320	NP_036452			1	PAG15_HUMAN	PLA2G15	HGNC	Q8NCC3	PAG15_HUMAN					3	455	+			UPI00000359EF	124					SNV	PLA2G15,stop_gained,p.Trp72Ter,ENST00000413021,;PLA2G15,synonymous_variant,p.=,ENST00000219345,NM_012320.3;PLA2G15,synonymous_variant,p.=,ENST00000566188,;PLA2G15,synonymous_variant,p.=,ENST00000568082,;PLA2G15,synonymous_variant,p.=,ENST00000564827,;PLA2G15,synonymous_variant,p.=,ENST00000565744,;PLA2G15,intron_variant,,ENST00000444212,;RP11-96D1.7,downstream_gene_variant,,ENST00000563175,;RP11-96D1.7,downstream_gene_variant,,ENST00000569843,;PLA2G15,3_prime_UTR_variant,,ENST00000566978,;PLA2G15,non_coding_transcript_exon_variant,,ENST00000565460,;PLA2G15,non_coding_transcript_exon_variant,,ENST00000562449,;PLA2G15,non_coding_transcript_exon_variant,,ENST00000562966,;	uc002evr.2	c.372G>A	455/2723	2	2			c.372G>A						16	SNP	c.(370-372)CTG>CTA	24	24			ovary(1)	1	Broad	lysophospholipase 3 (lysosomal phospholipase A2)			68288909		0.572	ENSG00000103066	11795	g.chr16:68288909G>A	fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding							90.624229	KEEP	18	14	-1	25	32	18	14	-1	92.473979	25	32	0.344828	1	0	0	0	0	0	0	1	0	--	--		0	A			PLA2G15_uc010vld.1_Silent_p.L124L|PLA2G15_uc010vle.1_Nonsense_Mutation_p.W72*|PLA2G15_uc010vlf.1_Intron|PLA2G15_uc002evs.2_5'UTR	122	GBM-12-0692-TP	p.L124L	G	CCTTCTCACTGGAGTTCCTGG	NM_012320	NP_036452	68288909	Q8NCC3	PAG15_HUMAN	0			3	455	+	A	A			Silent	124						
PLA2G16	0	broad.mit.edu	GRCh37	11	63381479	63381479	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-5133-01	TCGA-26-5133-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323646.5:c.8C>T	p.Ala3Val	p.A3V	ENST00000323646	NM_007069.3	3	gCg/gTg	0			1			A	A/V	uc001nxh.2	protein_coding	YES	CCDS8047.1			8/489									ovary(1)	1	c.(7-9)GCG>GTG				HRAS-like suppressor 3				ENSP00000320337		4-Jan									COSM3398009	4-Jan	.		ENST00000323646	Transcript			lipid catabolic process	integral to membrane|perinuclear region of cytoplasm	hydrolase activity|protein binding	ENSG00000176485	g.chr11:63381479G>A	17825			MODERATE		0.41	neutral	getma.org/?cm=msa&ty=f&p=PAG16_HUMAN&rb=2&re=126&var=A3V	getma.org/pdb.php?prot=PAG16_HUMAN&from=2&to=126&var=A3V	getma.org/?cm=var&var=hg19,11,63381479,G,A&fts=all	A3V	--	--	1																																		PLA2G16_uc001nxi.2_Missense_Mutation_p.R32C|PLA2G16_uc009you.1_Missense_Mutation_p.A3V	1	1		benign(0.052)	p.A3V	NM_007069	NP_009000		deleterious_low_confidence(0.04)	1	HRSL3_HUMAN	PLA2G16	HGNC	P53816	PAG16_HUMAN			F5H7E5_HUMAN		1	431	-			UPI000012CBE4	3					SNV	PLA2G16,missense_variant,p.Ala3Val,ENST00000323646,NM_007069.3;PLA2G16,missense_variant,p.Ala3Val,ENST00000415826,NM_001128203.1;RP11-697H9.3,upstream_gene_variant,,ENST00000542805,;PLA2G16,non_coding_transcript_exon_variant,,ENST00000394613,;PLA2G16,intron_variant,,ENST00000544269,;	uc001nxh.2	c.8C>T	363/2594	1	1			c.8C>T						11	SNP	c.(7-9)GCG>GTG	56	56			ovary(1)	1	Broad	HRAS-like suppressor 3			63381479		0.478	ENSG00000176485	11796	g.chr11:63381479G>A	lipid catabolic process	integral to membrane|perinuclear region of cytoplasm	hydrolase activity|protein binding							-7.963135	KEEP	0	4	-1	46	48	0	4	-1	8.108279	46	48	0.052632	1	0	0	0	0	1	0	0	0	--	--		0	A			PLA2G16_uc001nxi.2_Missense_Mutation_p.R32C|PLA2G16_uc009you.1_Missense_Mutation_p.A3V	182	GBM-26-5133-TP	p.A3V	G	TACAATGGGCGCACGCATCTT	NM_007069	NP_009000	63381479	P53816	PAG16_HUMAN	0			1	431	-	A	A			Missense_Mutation	3						
PLA2G2F	0	broad.mit.edu	GRCh37	1	20470022	20470022	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-2571-01	TCGA-41-2571-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375102.3:c.253G>A	p.Val85Met	p.V85M	ENST00000375102	NM_022819.3	85	Gtg/Atg	0			1			A	V/M	uc009vpp.1	protein_coding	YES	CCDS204.2			253/636									ovary(1)	1	c.(253-255)GTG>ATG			Gene3D:1.20.90.10,Pfam_domain:PF00068,Prints_domain:PR00389,hmmpanther:PTHR11716,hmmpanther:PTHR11716:SF8,SMART_domains:SM00085,Superfamily_domains:SSF48619	phospholipase A2, group IIF				ENSP00000364243		5-Mar	2.47E-05					3.01E-05		6.06E-05	rs750448231,COSM3400223	5-Mar	.		ENST00000375102	Transcript			lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	ENSG00000158786	g.chr1:20470022G>A	30040			MODERATE		1.06	low	getma.org/?cm=msa&ty=f&p=PA2GF_HUMAN&rb=21&re=145&var=V42M	getma.org/pdb.php?prot=PA2GF_HUMAN&from=21&to=145&var=V42M	getma.org/?cm=var&var=hg19,1,20470022,G,A&fts=all	V42M	--	--	1																																			0,1	1		possibly_damaging(0.543)	p.V85M	NM_022819	NP_073730		tolerated(0.2)	0,1	PA2GF_HUMAN	PLA2G2F	HGNC	Q9BZM2	PA2GF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)			3	351	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	UPI0000044C9D	42					SNV	PLA2G2F,missense_variant,p.Val85Met,ENST00000375102,NM_022819.3;PLA2G2F,non_coding_transcript_exon_variant,,ENST00000465062,;	uc009vpp.1	c.253G>A	355/2723	2	2			c.253G>A						1	SNP	c.(253-255)GTG>ATG	18	18			ovary(1)	1	Broad	phospholipase A2, group IIF			20470022		0.637	ENSG00000158786	11802	g.chr1:20470022G>A	lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity							104.513148	KEEP	21	23	-1	41	52	21	23	-1	108.509245	41	52	0.308943	1	0	0	0	0	1	0	0	0	--	--		0	A				250	GBM-41-2571-TP	p.V85M	G	CCTGTCCTTCGTGGGCTACGG	NM_022819	NP_073730	20470022	Q9BZM2	PA2GF_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	3	351	+	A	A		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	42						
PLA2G3	0	broad.mit.edu	GRCh37	22	31534350	31534350	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01	TCGA-27-1836-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000215885.3:c.694G>A	p.Val232Met	p.V232M	ENST00000215885	NM_015715.3	232	Gtg/Atg	0			1			T	V/M	uc003aka.2	protein_coding	YES	CCDS13889.1			694/1530										0	c.(694-696)GTG>ATG			hmmpanther:PTHR12253:SF11,hmmpanther:PTHR12253,Pfam_domain:PF05826,Gene3D:1.20.90.10,Superfamily_domains:SSF48619	phospholipase A2, group III precursor				ENSP00000215885		7-Mar	8.24E-06					1.51E-05			rs770485758,COSM2937954,COSM2937953	7-Mar	.		ENST00000215885	Transcript			cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity	ENSG00000100078	g.chr22:31534350C>T	17934			MODERATE		1.515	low	getma.org/?cm=msa&ty=f&p=PA2G3_HUMAN&rb=152&re=251&var=V232M	getma.org/pdb.php?prot=PA2G3_HUMAN&from=152&to=251&var=V232M	getma.org/?cm=var&var=hg19,22,31534350,C,T&fts=all	V232M	--	--	1																																			0,1,1	1		possibly_damaging(0.73)	p.V232M	NM_015715	NP_056530		tolerated(0.14)	0,1,1	PA2G3_HUMAN	PLA2G3	HGNC	Q9NZ20	PA2G3_HUMAN					3	823	-			UPI00001AE5E4	232			Phospholipase A2-like.		SNV	PLA2G3,missense_variant,p.Val232Met,ENST00000215885,NM_015715.3;INPP5J,downstream_gene_variant,,ENST00000331075,NM_001284285.1;INPP5J,downstream_gene_variant,,ENST00000412277,NM_001284286.1;INPP5J,downstream_gene_variant,,ENST00000405300,NM_001284289.1;INPP5J,downstream_gene_variant,,ENST00000400294,NM_001284288.1;INPP5J,downstream_gene_variant,,ENST00000404390,NM_001002837.1;INPP5J,downstream_gene_variant,,ENST00000401755,;INPP5J,downstream_gene_variant,,ENST00000404453,;INPP5J,downstream_gene_variant,,ENST00000402238,;INPP5J,downstream_gene_variant,,ENST00000461241,;	uc003aka.2	c.694G>A	947/2697	2	2			c.694G>A						22	SNP	c.(694-696)GTG>ATG	43	43				0	Broad	phospholipase A2, group III precursor			31534350		0.617	ENSG00000100078	11803	g.chr22:31534350C>T	cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity							61.865558	KEEP	12	10	-1	20	13	12	10	-1	62.144785	20	13	0.42	1	0	0	0	0	1	0	0	0	--	--		0	T				195	GBM-27-1836-TP	p.V232M	C	GCCACGCCCACGATGTCCGAG	NM_015715	NP_056530	31534350	Q9NZ20	PA2G3_HUMAN	0			3	823	-	T	T			Missense_Mutation	232			Phospholipase A2-like.			
PLA2G4A	0	broad.mit.edu	GRCh37	1	186948519	186948519	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-28-1747-01	TCGA-28-1747-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367466.3:c.2033T>G	p.Phe678Cys	p.F678C	ENST00000367466	NM_024420.2	678	tTt/tGt	0			1			G	F/C	uc001gsc.2	protein_coding	YES	CCDS1372.1			2033/2250									lung(2)|breast(1)	3	c.(2032-2034)TTT>TGT			Gene3D:3.40.1090.10,PROSITE_profiles:PS51210,hmmpanther:PTHR10728,hmmpanther:PTHR10728:SF13,Superfamily_domains:SSF52151	cytosolic phospholipase A2, group IVA	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)			ENSP00000356436		17/18									COSM3400122	17/18	.		ENST00000367466	Transcript			phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	ENSG00000116711	g.chr1:186948519T>G	9035			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=PA24A_HUMAN&rb=140&re=740&var=F678C	getma.org/pdb.php?prot=PA24A_HUMAN&from=140&to=740&var=F678C	getma.org/?cm=var&var=hg19,1,186948519,T,G&fts=all	F678C	--	--	1																																		PLA2G4A_uc010pos.1_Missense_Mutation_p.F618C	1	1		probably_damaging(0.91)	p.F678C	NM_024420	NP_077734		deleterious(0)	1	PA24A_HUMAN	PLA2G4A	HGNC	P47712	PA24A_HUMAN					17	2238	+			UPI0000203D76	678			PLA2c.		SNV	PLA2G4A,missense_variant,p.Phe678Cys,ENST00000367466,NM_024420.2;PLA2G4A,missense_variant,p.Phe618Cys,ENST00000442353,;	uc001gsc.2	c.2033T>G	2185/2875	3	3			c.2033T>G						1	SNP	c.(2032-2034)TTT>TGT	52	52			lung(2)|breast(1)	3	Broad	cytosolic phospholipase A2, group IVA		Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	186948519		0.358	ENSG00000116711	11804	g.chr1:186948519T>G	phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity							240.099935	KEEP	35	36	-1	48	72	35	36	-1	242.873092	48	72	0.368132	1	0	0	0	0	1	0	0	0	--	--		0	G			PLA2G4A_uc010pos.1_Missense_Mutation_p.F618C	206	GBM-28-1747-TP	p.F678C	T	GAATCACCATTTTCAACCTTC	NM_024420	NP_077734	186948519	P47712	PA24A_HUMAN	0			17	2238	+	G	G			Missense_Mutation	678			PLA2c.			
PLA2G4A	0	broad.mit.edu	GRCh37	1	186863259	186863259	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-2573-01	TCGA-41-2573-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367466.3:c.294G>A	p.Met98Ile	p.M98I	ENST00000367466	NM_024420.2	98	atG/atA	0			1			A	M/I	uc001gsc.2	protein_coding	YES	CCDS1372.1			294/2250									lung(2)|breast(1)	3	c.(292-294)ATG>ATA			Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR10728,hmmpanther:PTHR10728:SF13,SMART_domains:SM00239,Superfamily_domains:SSF49562	cytosolic phospholipase A2, group IVA	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)			ENSP00000356436		18-May									COSM3400120	18-May	.		ENST00000367466	Transcript			phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	ENSG00000116711	g.chr1:186863259G>A	9035			MODERATE		1.155	low	getma.org/?cm=msa&ty=f&p=PA24A_HUMAN&rb=20&re=106&var=M98I	getma.org/pdb.php?prot=PA24A_HUMAN&from=20&to=106&var=M98I	getma.org/?cm=var&var=hg19,1,186863259,G,A&fts=all	M98I	--	--	1																																		PLA2G4A_uc010pos.1_Missense_Mutation_p.M98I	1	1		benign(0.005)	p.M98I	NM_024420	NP_077734		tolerated(0.52)	1	PA24A_HUMAN	PLA2G4A	HGNC	P47712	PA24A_HUMAN					5	499	+			UPI0000203D76	98			C2.|Phospholipid binding (Probable).		SNV	PLA2G4A,missense_variant,p.Met98Ile,ENST00000367466,NM_024420.2;PLA2G4A,missense_variant,p.Met98Ile,ENST00000442353,;PLA2G4A,non_coding_transcript_exon_variant,,ENST00000466600,;	uc001gsc.2	c.294G>A	446/2875	2	2			c.294G>A						1	SNP	c.(292-294)ATG>ATA	35	35			lung(2)|breast(1)	3	Broad	cytosolic phospholipase A2, group IVA		Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	186863259		0.338	ENSG00000116711	11804	g.chr1:186863259G>A	phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity							166.864632	KEEP	32	27	-1	44	29	32	27	-1	166.913875	44	29	0.477477	1	0	0	0	0	1	0	0	0	--	--		0	A			PLA2G4A_uc010pos.1_Missense_Mutation_p.M98I	252	GBM-41-2573-TP	p.M98I	G	ATTATGTCATGGATGAAACTC	NM_024420	NP_077734	186863259	P47712	PA24A_HUMAN	0			5	499	+	A	A			Missense_Mutation	98			C2.|Phospholipid binding (Probable).			
PLA2G4D	0	broad.mit.edu	GRCh37	15	42364081	42364081	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290472.3:c.1464C>T	p.Val488=	p.V488=	ENST00000290472	NM_178034.3	488	gtC/gtT	0	A:0	A:0.0008	1	A:0		A	V	uc001zox.2	protein_coding	YES	CCDS32203.1			1464/2457									large_intestine(1)|skin(1)	2	c.(1462-1464)GTC>GTT			PROSITE_profiles:PS51210,hmmpanther:PTHR10728,hmmpanther:PTHR10728:SF25,Pfam_domain:PF01735,Gene3D:3.40.1090.10,SMART_domains:SM00022,Superfamily_domains:SSF52151	phospholipase A2, group IVD		A:0	A:0.0001	ENSP00000290472	A:0	15/20	1.65E-05	0.000197							rs200945224,COSM3401734	15/20	.		ENST00000290472	Transcript		A:0.0002	phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	ENSG00000159337	g.chr15:42364081G>A	30038			LOW								--	--	1																																			0,1	1			p.V488V	NM_178034	NP_828848	A:0		0,1	PA24D_HUMAN	PLA2G4D	HGNC	Q86XP0	PA24D_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)			15	1559	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	UPI00001FE2F2	488			PLA2c.		SNV	PLA2G4D,synonymous_variant,p.=,ENST00000290472,NM_178034.3;PLA2G4D,upstream_gene_variant,,ENST00000560932,;	uc001zox.2	c.1464C>T	1559/3584	2	2			c.1464C>T						15	SNP	c.(1462-1464)GTC>GTT	17	17			large_intestine(1)|skin(1)	2	Broad	phospholipase A2, group IVD			42364081		0.607	ENSG00000159337	11807	g.chr15:42364081G>A	phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity							84.157807	KEEP	14	14	-1	9	12	14	14	-1	84.679336	9	12	0.619048	1	0	0	0	0	0	0	1	0	--	--		0	A				159	GBM-19-1390-TP	p.V488V	G	TCAGGAAACCGACCTCATAGG	NM_178034	NP_828848	42364081	Q86XP0	PA24D_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	15	1559	-	A	A		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	Silent	488			PLA2c.			
PLA2G4D	0	broad.mit.edu	GRCh37	15	42364007	42364007	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-2623-01	TCGA-19-2623-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290472.3:c.1538G>T	p.Arg513Met	p.R513M	ENST00000290472	NM_178034.3	513	aGg/aTg	0			1			A	R/M	uc001zox.2	protein_coding	YES	CCDS32203.1			1538/2457									large_intestine(1)|skin(1)	2	c.(1537-1539)AGG>ATG			PROSITE_profiles:PS51210,hmmpanther:PTHR10728,hmmpanther:PTHR10728:SF25,Pfam_domain:PF01735,Gene3D:3.40.1090.10,SMART_domains:SM00022,Superfamily_domains:SSF52151	phospholipase A2, group IVD				ENSP00000290472		15/20									COSM3401733	15/20	.		ENST00000290472	Transcript			phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	ENSG00000159337	g.chr15:42364007C>A	30038			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=PA24D_HUMAN&rb=323&re=563&var=R513M	getma.org/pdb.php?prot=PA24D_HUMAN&from=323&to=563&var=R513M	getma.org/?cm=var&var=hg19,15,42364007,C,A&fts=all	R513M	--	--	1																																			1	1		probably_damaging(0.944)	p.R513M	NM_178034	NP_828848		deleterious(0)	1	PA24D_HUMAN	PLA2G4D	HGNC	Q86XP0	PA24D_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)			15	1633	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	UPI00001FE2F2	513			PLA2c.		SNV	PLA2G4D,missense_variant,p.Arg513Met,ENST00000290472,NM_178034.3;PLA2G4D,non_coding_transcript_exon_variant,,ENST00000560932,;	uc001zox.2	c.1538G>T	1633/3584	1	1			c.1538G>T						15	SNP	c.(1537-1539)AGG>ATG	53	53			large_intestine(1)|skin(1)	2	Broad	phospholipase A2, group IVD			42364007		0.617	ENSG00000159337	11807	g.chr15:42364007C>A	phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity							115.631611	KEEP	15	30	0.666666667	47	43	15	30	0.666666667	118.293232	47	43	0.341667	1	0	0	0	0	1	0	0	0	--	--		0	A				163	GBM-19-2623-TP	p.R513M	C	CGGGATCCTCCTCATCAGCCG	NM_178034	NP_828848	42364007	Q86XP0	PA24D_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	15	1633	-	A	A		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	Missense_Mutation	513			PLA2c.			
PLA2G4F	0	broad.mit.edu	GRCh37	15	42439928	42439928	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-32-2634-01	TCGA-32-2634-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397272.3:c.1098T>G	p.Gly366=	p.G366=	ENST00000397272	NM_213600.3	366	ggT/ggG	0			1			C	G	uc001zoz.2	protein_coding					1098/2556									ovary(4)	4	c.(1090-1092)GGT>GGG			PROSITE_profiles:PS51210,hmmpanther:PTHR10728:SF22,hmmpanther:PTHR10728,Gene3D:3.40.1090.10,Pfam_domain:PF01735,SMART_domains:SM00022,Superfamily_domains:SSF52151	phospholipase A2, group IVF				ENSP00000380442		20-Dec	7.41E-05	0.000101			0.000157	3.07E-05			rs768739496,COSM347042	20-Dec	.		ENST00000397272	Transcript			phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	ENSG00000168907	g.chr15:42439928A>C	27396			LOW								--	--	1																																		PLA2G4F_uc010bcq.2_5'Flank|PLA2G4F_uc001zoy.2_5'UTR|PLA2G4F_uc010bcr.2_Silent_p.G115G|PLA2G4F_uc001zpa.2_Silent_p.G115G|PLA2G4F_uc010bcs.2_Silent_p.G151G	0,1				p.G364G	NM_213600	NP_998765			0,1		PLA2G4F	HGNC	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	C9J281_HUMAN		12	1155	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	UPI00015DFCD6	364			PLA2c.		SNV	PLA2G4F,synonymous_variant,p.=,ENST00000397272,NM_213600.3;PLA2G4F,synonymous_variant,p.=,ENST00000382396,;PLA2G4F,3_prime_UTR_variant,,ENST00000569985,;PLA2G4F,3_prime_UTR_variant,,ENST00000290497,;PLA2G4F,non_coding_transcript_exon_variant,,ENST00000561893,;PLA2G4F,upstream_gene_variant,,ENST00000562320,;PLA2G4F,downstream_gene_variant,,ENST00000561627,;	uc001zoz.2	c.1092T>G	1190/3498	4	4			c.1092T>G						15	SNP	c.(1090-1092)GGT>GGG	33	33			ovary(4)	4	Broad	phospholipase A2, group IVF			42439928		0.522	ENSG00000168907	11809	g.chr15:42439928A>C	phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity							8.32589	KEEP	14	12	-1	14	23	14	12	-1	10.79263	14	23	0.243243	1	0	0	0	0	0	0	1	0	--	--		0	C			PLA2G4F_uc010bcq.2_5'Flank|PLA2G4F_uc001zoy.2_5'UTR|PLA2G4F_uc010bcr.2_Silent_p.G115G|PLA2G4F_uc001zpa.2_Silent_p.G115G|PLA2G4F_uc010bcs.2_Silent_p.G151G	241	GBM-32-2634-TP	p.G364G	A	CTCGGGTTCCACCCCCGGAAC	NM_213600	NP_998765	42439928	Q68DD2	PA24F_HUMAN	0		GBM - Glioblastoma multiforme(94;8.97e-07)	12	1155	-	C	C		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	Silent	364			PLA2c.			
PLA2G6	0	broad.mit.edu	GRCh37	22	38541510	38541510	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332509.3:c.360G>C	p.Trp120Cys	p.W120C	ENST00000332509	NM_003560.2	120	tgG/tgC	0			1			G	W/C	uc003auy.1	protein_coding	YES	CCDS13967.1			360/2421									ovary(1)	1	c.(358-360)TGG>TGC			hmmpanther:PTHR24139:SF27,hmmpanther:PTHR24139,Gene3D:1.25.40.20	phospholipase A2, group VI isoform a	Quinacrine(DB01103)			ENSP00000333142		17-Mar									COSM3405667	17-Mar	.		ENST00000332509	Transcript	1		cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		ENSG00000184381	g.chr22:38541510C>G	9039			MODERATE		1.585	low	getma.org/?cm=msa&ty=f&p=PA2G6_HUMAN&rb=109&re=150&var=W120C	NA	getma.org/?cm=var&var=hg19,22,38541510,C,G&fts=all	W120C	--	--	1																																		PLA2G6_uc003auz.1_Missense_Mutation_p.W120C|PLA2G6_uc003ava.1_Missense_Mutation_p.W120C|PLA2G6_uc003avb.2_Missense_Mutation_p.W120C|PLA2G6_uc010gxk.1_Intron|PLA2G6_uc011ano.1_Missense_Mutation_p.W120C	1	1		probably_damaging(1)	p.W120C	NM_003560	NP_003551		deleterious(0)	1	PLPL9_HUMAN	PLA2G6	HGNC	O60733	PA2G6_HUMAN			M0R3D9_HUMAN,M0R1Q9_HUMAN,F8WEQ9_HUMAN		3	496	-	Melanoma(58;0.045)		UPI00001310F3	120					SNV	PLA2G6,missense_variant,p.Trp120Cys,ENST00000332509,NM_003560.2;PLA2G6,missense_variant,p.Trp120Cys,ENST00000335539,NM_001004426.1;PLA2G6,missense_variant,p.Trp120Cys,ENST00000402064,NM_001199562.1;PLA2G6,missense_variant,p.Trp120Cys,ENST00000436218,;PLA2G6,3_prime_UTR_variant,,ENST00000447598,;PLA2G6,intron_variant,,ENST00000430886,;PLA2G6,upstream_gene_variant,,ENST00000427114,;PLA2G6,upstream_gene_variant,,ENST00000498338,;PLA2G6,downstream_gene_variant,,ENST00000435484,;PLA2G6,upstream_gene_variant,,ENST00000452542,;PLA2G6,downstream_gene_variant,,ENST00000417303,;PLA2G6,downstream_gene_variant,,ENST00000455341,;PLA2G6,non_coding_transcript_exon_variant,,ENST00000479641,;PLA2G6,non_coding_transcript_exon_variant,,ENST00000445591,;PLA2G6,non_coding_transcript_exon_variant,,ENST00000452972,;PLA2G6,downstream_gene_variant,,ENST00000420435,;PLA2G6,downstream_gene_variant,,ENST00000426674,;PLA2G6,intron_variant,,ENST00000471636,;	uc003auy.1	c.360G>C	544/3271	3	3			c.360G>C						22	SNP	c.(358-360)TGG>TGC	9	9			ovary(1)	1	Broad	phospholipase A2, group VI isoform a		Quinacrine(DB01103)	38541510		0.577	ENSG00000184381	11811	g.chr22:38541510C>G	cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane								3.032343	KEEP	0	2	-1	12	11	0	2	-1	7.00346	12	11	0.086957	1	0	0	0	0	1	0	0	0	--	--		0	G			PLA2G6_uc003auz.1_Missense_Mutation_p.W120C|PLA2G6_uc003ava.1_Missense_Mutation_p.W120C|PLA2G6_uc003avb.2_Missense_Mutation_p.W120C|PLA2G6_uc010gxk.1_Intron|PLA2G6_uc011ano.1_Missense_Mutation_p.W120C	160	GBM-19-1790-TP	p.W120C	C	GGGCCACTGACCAGCTGGGGT	NM_003560	NP_003551	38541510	O60733	PA2G6_HUMAN	0			3	496	-	G	G	Melanoma(58;0.045)		Missense_Mutation	120						
PLA2G7	0	broad.mit.edu	GRCh37	6	46678392	46678392	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-28-5207-01	TCGA-28-5207-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274793.7:c.667C>A	p.Arg223=	p.R223=	ENST00000274793	NM_005084.3	223	Cgg/Agg	0		A:0	1	A:0		T	R	uc010jzf.2	protein_coding	YES	CCDS4917.1			667/1326										0	c.(667-669)CGG>AGG			hmmpanther:PTHR10272,hmmpanther:PTHR10272:SF9,Pfam_domain:PF03403,PIRSF_domain:PIRSF018169	phospholipase A2, group VII		A:0.002		ENSP00000274793	A:0	12-Aug									rs200057649,COSM2157343	12-Aug	.		ENST00000274793	Transcript	1	A:0.0006	inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	ENSG00000146070	g.chr6:46678392G>T	9040			LOW								--	--	1																																		PLA2G7_uc010jzg.1_Silent_p.R223R|PLA2G7_uc011dwd.1_Silent_p.R178R|PLA2G7_uc011dwe.1_Silent_p.R96R	0,1	1			p.R223R	NM_005084	NP_005075	A:0.001		0,1	PAFA_HUMAN	PLA2G7	HGNC	Q13093	PAFA_HUMAN	Lung(136;0.192)				8	936	-			UPI000002FED1	223					SNV	PLA2G7,synonymous_variant,p.=,ENST00000274793,NM_005084.3;PLA2G7,synonymous_variant,p.=,ENST00000537365,NM_001168357.1;PLA2G7,synonymous_variant,p.=,ENST00000538237,;PLA2G7,synonymous_variant,p.=,ENST00000541026,;	uc010jzf.2	c.667C>A	864/1882	1	1			c.667C>A						6	SNP	c.(667-669)CGG>AGG	1	1				0	Broad	phospholipase A2, group VII			46678392		0.323	ENSG00000146070	11812	g.chr6:46678392G>T	inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding							178.856329	KEEP	30	36	0.454545455	56	56	30	36	0.454545455	181.917937	56	56	0.352201	1	0	0	0	0	0	0	1	0	--	--		0	T			PLA2G7_uc010jzg.1_Silent_p.R223R|PLA2G7_uc011dwd.1_Silent_p.R178R|PLA2G7_uc011dwe.1_Silent_p.R96R	216	GBM-28-5207-TP	p.R223R	G	GCTCTTTGCCGTACCTAATAT	NM_005084	NP_005075	46678392	Q13093	PAFA_HUMAN	0	Lung(136;0.192)		8	936	-	T	T			Silent	223						
PLAGL2	5326	broad.mit.edu	GRCh37	20	30785118	30785118	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-6389-01	TCGA-06-6389-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000246229.4:c.628C>G	p.Leu210Val	p.L210V	ENST00000246229	NM_002657.3	210	Cta/Gta	0			1			C	L/V	uc002wxn.2	protein_coding	YES	CCDS13197.1			628/1491									ovary(1)|skin(1)	2	c.(628-630)CTA>GTA			PROSITE_profiles:PS50157,hmmpanther:PTHR10032:SF190,hmmpanther:PTHR10032,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	pleiomorphic adenoma gene-like 2				ENSP00000246229		3-Mar										3-Mar	.		ENST00000246229	Transcript				nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000126003	g.chr20:30785118G>C	9047			MODERATE		0.185	neutral	getma.org/?cm=msa&ty=f&p=PLAL2_HUMAN&rb=173&re=248&var=L210V	getma.org/pdb.php?prot=PLAL2_HUMAN&from=203&to=218&var=L210V	getma.org/?cm=var&var=hg19,20,30785118,G,C&fts=all	L210V	--	--	1																																				1		benign(0.138)	p.L210V	NM_002657	NP_002648		deleterious(0.01)		PLAL2_HUMAN	PLAGL2	HGNC	Q9UPG8	PLAL2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)				3	845	-			UPI0000001C1D	210			C2H2-type 5.		SNV	PLAGL2,missense_variant,p.Leu210Val,ENST00000246229,NM_002657.3;	uc002wxn.2	c.628C>G	893/5705	4	4			c.628C>G						20	SNP	c.(628-630)CTA>GTA	41	41			ovary(1)|skin(1)	2	Broad	pleiomorphic adenoma gene-like 2			30785118		0.612	ENSG00000126003	11823	g.chr20:30785118G>C		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	Colon(163;15 1893 11280 16306 47518)			Colon(163;15 1893 11280 16306 47518)			30.548062	KEEP	5	5	-1	6	3	5	5	-1	30.59601	6	3	0.555556	1	0	0	0	0	1	0	0	0	--	--		0	C				105	GBM-06-6389-TP	p.L210V	G	TGCACCACTAGGTGCCGCCGT	NM_002657	NP_002648	30785118	Q9UPG8	PLAL2_HUMAN	0	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	845	-	C	C			Missense_Mutation	210			C2H2-type 5.			
PLAT	0	broad.mit.edu	GRCh37	8	42037449	42037449	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-32-4210-01	TCGA-32-4210-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000220809.4:c.1358A>C	p.Glu453Ala	p.E453A	ENST00000220809	NM_000930.3	453	gAg/gCg	0			1			G	E/A	uc003xos.2	protein_coding	YES	CCDS6126.1			1358/1689									breast(1)|skin(1)	2	c.(1357-1359)GAG>GCG			Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF001145,PROSITE_profiles:PS50240,hmmpanther:PTHR24259,hmmpanther:PTHR24259:SF0,SMART_domains:SM00020,Superfamily_domains:SSF50494	plasminogen activator, tissue isoform 1	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)			ENSP00000220809		14-Dec									COSM3413028	14-Dec	.		ENST00000220809	Transcript			blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	ENSG00000104368	g.chr8:42037449T>G	9051			MODERATE		0.5	neutral	getma.org/?cm=msa&ty=f&p=TPA_HUMAN&rb=311&re=556&var=E453A	getma.org/pdb.php?prot=TPA_HUMAN&from=311&to=556&var=E453A	getma.org/?cm=var&var=hg19,8,42037449,T,G&fts=all	E453A	--	--	1																																		PLAT_uc010lxf.1_Missense_Mutation_p.E370A|PLAT_uc010lxg.1_Missense_Mutation_p.E278A|PLAT_uc003xot.2_Missense_Mutation_p.E407A|PLAT_uc011lcm.1_Missense_Mutation_p.E364A|PLAT_uc011lcn.1_Missense_Mutation_p.E327A	1	1		benign(0.293)	p.E453A	NM_000930	NP_000921		tolerated(0.08)	1	TPA_HUMAN	PLAT	HGNC	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Q6LBF5_HUMAN,E5RHG4_HUMAN,E5RGA1_HUMAN		12	1567	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	UPI0000000DD4	453			Peptidase S1.		SNV	PLAT,missense_variant,p.Glu453Ala,ENST00000220809,NM_000930.3;PLAT,missense_variant,p.Glu453Ala,ENST00000429089,;PLAT,missense_variant,p.Glu407Ala,ENST00000352041,NM_033011.2;PLAT,missense_variant,p.Glu390Ala,ENST00000519510,;PLAT,missense_variant,p.Glu327Ala,ENST00000429710,;PLAT,missense_variant,p.Glu364Ala,ENST00000524009,;PLAT,synonymous_variant,p.=,ENST00000270189,;PLAT,downstream_gene_variant,,ENST00000521647,;PLAT,downstream_gene_variant,,ENST00000521042,;PLAT,downstream_gene_variant,,ENST00000524261,;PLAT,downstream_gene_variant,,ENST00000522812,;	uc003xos.2	c.1358A>C	1615/2706	3	3			c.1358A>C						8	SNP	c.(1357-1359)GAG>GCG	8	8			breast(1)|skin(1)	2	Broad	plasminogen activator, tissue isoform 1		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	42037449		0.652	ENSG00000104368	11824	g.chr8:42037449T>G	blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			176			176	5.442682	KEEP	2	0	-1	2	9	2	0	-1	6.706386	2	9	0.166667	1	0	0	0	0	1	0	0	0	--	--		0	G			PLAT_uc010lxf.1_Missense_Mutation_p.E370A|PLAT_uc010lxg.1_Missense_Mutation_p.E278A|PLAT_uc003xot.2_Missense_Mutation_p.E407A|PLAT_uc011lcm.1_Missense_Mutation_p.E364A|PLAT_uc011lcn.1_Missense_Mutation_p.E327A	245	GBM-32-4210-TP	p.E453A	T	CTTACAGGCCTCATGCTTGCC	NM_000930	NP_000921	42037449	P00750	TPA_HUMAN	0	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		12	1567	-	G	G	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Missense_Mutation	453			Peptidase S1.			
PLAT	5327		GRCh37	8	42036566	42036566	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000220809.4:c.1379C>T	p.Ser460Leu	p.S460L	ENST00000220809	NM_000930.3	460	tCg/tTg	0																																																																																																																																																																																																																																												
PLB1	151056	broad.mit.edu	GRCh37	2	28764631	28764631	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01	TCGA-06-0185-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327757.5:c.832G>A	p.Val278Met	p.V278M	ENST00000327757	NM_153021.4	278	Gtg/Atg	0			1			A	V/M	uc002rmb.1	protein_coding	YES	CCDS33168.1			832/4377								p.V278M(1)	ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	c.(832-834)GTG>ATG			hmmpanther:PTHR21325,hmmpanther:PTHR21325:SF1	phospholipase B1 precursor				ENSP00000330442		13/58	2.47E-05					4.51E-05			rs778756062,COSM50473,COSM2150550	13/58	.		ENST00000327757	Transcript			lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	ENSG00000163803	g.chr2:28764631G>A	30041			MODERATE		3.155	medium	getma.org/?cm=msa&ty=f&p=PLB1_HUMAN&rb=201&re=393&var=V278M	NA	getma.org/?cm=var&var=hg19,2,28764631,G,A&fts=all	V278M	--	--	1																																		PLB1_uc010ezj.1_Missense_Mutation_p.V289M	0,1,1	1		probably_damaging(0.957)	p.V278M	NM_153021	NP_694566		deleterious(0.03)	0,1,1	PLB1_HUMAN	PLB1	HGNC	Q6P1J6	PLB1_HUMAN					13	832	+	Acute lymphoblastic leukemia(172;0.155)		UPI0000D6117C	278			4 X 308-326 AA approximate repeats.|Extracellular (Potential).|1.		SNV	PLB1,missense_variant,p.Val289Met,ENST00000422425,NM_001170585.1;PLB1,missense_variant,p.Val278Met,ENST00000327757,NM_153021.4;PLB1,missense_variant,p.Val288Met,ENST00000404858,;PLB1,downstream_gene_variant,,ENST00000416713,;	uc002rmb.1	c.832G>A	876/5107	2	2			c.832G>A						2	SNP	c.(832-834)GTG>ATG	34	34		p.V278M(1)	ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Broad	phospholipase B1 precursor			28764631		0.537	ENSG00000163803	11827	g.chr2:28764631G>A	lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity							108.764797	KEEP	30	17	-1	47	42	30	17	-1	110.779669	47	42	0.357143	1	0	0	0	0	1	0	0	0	--	--		0	A			PLB1_uc010ezj.1_Missense_Mutation_p.V289M	40	GBM-06-0185-TP	p.V278M	G	GTCCTTCACCGTGGTTTTCCA	NM_153021	NP_694566	28764631	Q6P1J6	PLB1_HUMAN	0			13	832	+	A	A	Acute lymphoblastic leukemia(172;0.155)		Missense_Mutation	278			4 X 308-326 AA approximate repeats.|Extracellular (Potential).|1.			
PLB1	0	broad.mit.edu	GRCh37	2	28741363	28741363	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-12-3650-01	TCGA-12-3650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327757.5:c.148C>A	p.Pro50Thr	p.P50T	ENST00000327757	NM_153021.4	50	Cca/Aca	0			1			A	P/T	uc002rmb.1	protein_coding	YES	CCDS33168.1			148/4377									ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	c.(148-150)CCA>ACA			hmmpanther:PTHR21325,hmmpanther:PTHR21325:SF1	phospholipase B1 precursor				ENSP00000330442		Mar-58									COSM3407805,COSM3407806	Mar-58	.		ENST00000327757	Transcript			lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	ENSG00000163803	g.chr2:28741363C>A	30041			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=PLB1_HUMAN&rb=1&re=200&var=P50T	NA	getma.org/?cm=var&var=hg19,2,28741363,C,A&fts=all	P50T	--	--	1																																		PLB1_uc010ezj.1_Missense_Mutation_p.P50T	1,1	1		benign(0.01)	p.P50T	NM_153021	NP_694566		tolerated(0.5)	1,1	PLB1_HUMAN	PLB1	HGNC	Q6P1J6	PLB1_HUMAN					3	148	+	Acute lymphoblastic leukemia(172;0.155)		UPI0000D6117C	50			4 X 308-326 AA approximate repeats.|Extracellular (Potential).|1.		SNV	PLB1,missense_variant,p.Pro50Thr,ENST00000422425,NM_001170585.1;PLB1,missense_variant,p.Pro50Thr,ENST00000327757,NM_153021.4;PLB1,missense_variant,p.Pro49Thr,ENST00000404858,;PLB1,5_prime_UTR_variant,,ENST00000416713,;	uc002rmb.1	c.148C>A	192/5107	2	2			c.148C>A						2	SNP	c.(148-150)CCA>ACA	18	18			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Broad	phospholipase B1 precursor			28741363		0.428	ENSG00000163803	11827	g.chr2:28741363C>A	lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity							163.425472	KEEP	31	30	0.491803279	60	61	31	30	0.491803279	166.674859	60	61	0.349693	1	0	0	0	0	1	0	0	0	--	--		0	A			PLB1_uc010ezj.1_Missense_Mutation_p.P50T	126	GBM-12-3650-TP	p.P50T	C	CCCATGCAACCCAAATAAATT	NM_153021	NP_694566	28741363	Q6P1J6	PLB1_HUMAN	0			3	148	+	A	A	Acute lymphoblastic leukemia(172;0.155)		Missense_Mutation	50			4 X 308-326 AA approximate repeats.|Extracellular (Potential).|1.			
PLBD1	79887		GRCh37	12	14695158	14695158	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000240617.5:c.403G>A	p.Val135Met	p.V135M	ENST00000240617	NM_024829.5	135	Gtg/Atg	0																																																																																																																																																																																																																																												
PLBD2	0	broad.mit.edu	GRCh37	12	113825637	113825637	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01	TCGA-27-2526-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000280800.3:c.1528G>A	p.Asp510Asn	p.D510N	ENST00000280800	NM_173542.3	510	Gac/Aac	0			1			A	D/N	uc001tve.2	protein_coding	YES	CCDS9168.1			1528/1770										0	c.(1528-1530)GAC>AAC			hmmpanther:PTHR12370:SF3,hmmpanther:PTHR12370,Pfam_domain:PF04916	phospholipase B domain containing 2 isoform 1				ENSP00000280800		12-Nov	8.24E-06					1.50E-05			rs746818510,COSM3398381	12-Nov	.		ENST00000280800	Transcript			lipid catabolic process	lysosomal lumen	hydrolase activity	ENSG00000151176	g.chr12:113825637G>A	27283			MODERATE		3.64	high	getma.org/?cm=msa&ty=f&p=PLBL2_HUMAN&rb=60&re=589&var=D510N	getma.org/pdb.php?prot=PLBL2_HUMAN&from=60&to=589&var=D510N	getma.org/?cm=var&var=hg19,12,113825637,G,A&fts=all	D510N	--	--	1																																		PLBD2_uc001tvf.2_Missense_Mutation_p.D478N	0,1	1		probably_damaging(1)	p.D510N	NM_173542	NP_775813		deleterious(0)	0,1	PLBL2_HUMAN	PLBD2	HGNC	Q8NHP8	PLBL2_HUMAN					11	1563	+			UPI000013DC40	510					SNV	PLBD2,missense_variant,p.Asp510Asn,ENST00000280800,NM_173542.3;PLBD2,missense_variant,p.Asp478Asn,ENST00000545182,NM_001159727.1;SDS,downstream_gene_variant,,ENST00000257549,NM_006843.2;	uc001tve.2	c.1528G>A	1559/2573	2	2			c.1528G>A						12	SNP	c.(1528-1530)GAC>AAC	20	20				0	Broad	phospholipase B domain containing 2 isoform 1			113825637		0.617	ENSG00000151176	11829	g.chr12:113825637G>A	lipid catabolic process	lysosomal lumen	hydrolase activity							410.118655	KEEP	82	94	-1	117	129	82	94	-1	411.743246	117	129	0.42515	1	0	0	0	0	1	0	0	0	--	--		0	A			PLBD2_uc001tvf.2_Missense_Mutation_p.D478N	203	GBM-27-2526-TP	p.D510N	G	CGCCCGCTCCGACCTCAACCC	NM_173542	NP_775813	113825637	Q8NHP8	PLBL2_HUMAN	0			11	1563	+	A	A			Missense_Mutation	510						
PLCB1	23236	broad.mit.edu	GRCh37	20	8352082	8352082	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0152-01	TCGA-06-0152-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338037.6:c.231C>T	p.His77=	p.H77=	ENST00000338037	NM_015192.3	77	caC/caT	0			1			T	H	uc002wnb.2	protein_coding	YES	CCDS13102.1			231/3651									ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12	c.(229-231)CAC>CAT			hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF12,PIRSF_domain:PIRSF000956,Superfamily_domains:SSF50729	phosphoinositide-specific phospholipase C beta 1				ENSP00000338185		Mar-32	1.65E-05			0.000116		1.50E-05			rs773937907,COSM2149845,COSM2149846,COSM3405300	Mar-32	.		ENST00000338037	Transcript	1		activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	ENSG00000182621	g.chr20:8352082C>T	15917			LOW								--	--	1																																		PLCB1_uc010zrb.1_Translation_Start_Site|PLCB1_uc010gbv.1_Silent_p.H77H|PLCB1_uc002wmz.1_Silent_p.H77H|PLCB1_uc002wna.2_Silent_p.H77H	0,1,1,1	1			p.H77H	NM_015192	NP_056007			0,1,1,1	PLCB1_HUMAN	PLCB1	HGNC	Q9NQ66	PLCB1_HUMAN					3	234	+			UPI0000131A8F	77					SNV	PLCB1,synonymous_variant,p.=,ENST00000378641,NM_182734.2;PLCB1,synonymous_variant,p.=,ENST00000338037,NM_015192.3;PLCB1,synonymous_variant,p.=,ENST00000378637,;PLCB1,synonymous_variant,p.=,ENST00000404098,;	uc002wnb.2	c.231C>T	258/6729	1	1			c.231C>T						20	SNP	c.(229-231)CAC>CAT	14	14			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12	Broad	phosphoinositide-specific phospholipase C beta 1			8352082		0.468	ENSG00000182621	11830	g.chr20:8352082C>T	activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity							72.134971	KEEP	18	16	-1	55	61	18	16	-1	80.340727	55	61	0.232	1	0	0	0	0	0	0	1	0	--	--		0	T			PLCB1_uc010zrb.1_Translation_Start_Site|PLCB1_uc010gbv.1_Silent_p.H77H|PLCB1_uc002wmz.1_Silent_p.H77H|PLCB1_uc002wna.2_Silent_p.H77H	25	GBM-06-0152-TP	p.H77H	C	GTGGGAGACACGCCAAAGCTC	NM_015192	NP_056007	8352082	Q9NQ66	PLCB1_HUMAN	0			3	234	+	T	T			Silent	77						
PLCB1	23236	broad.mit.edu	GRCh37	20	8628555	8628559	+	frameshift_variant	Frame_Shift_Del	DEL	AACTT	AACTT	-			TCGA-06-2562-01	TCGA-06-2562-01	AACTT	AACTT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338037.6:c.475_479del	p.Leu159AlafsTer26	p.L159Afs*26	ENST00000338037	NM_015192.3	158	aAACTT/a	0			1			-	KL/X	uc002wnb.2	protein_coding	YES	CCDS13102.1			473-477/3651									ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12	c.(472-477)AAACTTfs			hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF12,PIRSF_domain:PIRSF000956,Superfamily_domains:SSF47473	phosphoinositide-specific phospholipase C beta 1				ENSP00000338185		Jun-32										Jun-32	.		ENST00000338037	Transcript	1		activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	ENSG00000182621	g.chr20:8628555_8628559delAACTT	15917	2		HIGH								--	--	1																																		PLCB1_uc010zrb.1_Frame_Shift_Del_p.K57fs|PLCB1_uc010gbv.1_Frame_Shift_Del_p.K158fs|PLCB1_uc002wmz.1_Frame_Shift_Del_p.K158fs|PLCB1_uc002wna.2_Frame_Shift_Del_p.K158fs|PLCB1_uc002wnc.1_Frame_Shift_Del_p.K57fs		1			p.K158fs	NM_015192	NP_056007				PLCB1_HUMAN	PLCB1	HGNC	Q9NQ66	PLCB1_HUMAN					6	476_480	+			UPI0000131A8F	158_159					deletion	PLCB1,frameshift_variant,p.Leu159AlafsTer26,ENST00000378641,NM_182734.2;PLCB1,frameshift_variant,p.Leu159AlafsTer26,ENST00000338037,NM_015192.3;PLCB1,frameshift_variant,p.Leu159AlafsTer26,ENST00000378637,;PLCB1,frameshift_variant,p.Leu158AlafsTer26,ENST00000404098,;PLCB1,upstream_gene_variant,,ENST00000475958,;	uc002wnb.2	c.473_477delAACTT	500-504/6729	5	5			c.473_477delAACTT						20	DEL	c.(472-477)AAACTTfs	34	34			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12	Broad	phosphoinositide-specific phospholipase C beta 1			8628559		0.259	ENSG00000182621	11830	g.chr20:8628555_8628559delAACTT	activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity																				0.18	1	1	0	1	0	0	0	0	0	--	--		0	-			PLCB1_uc010zrb.1_Frame_Shift_Del_p.K57fs|PLCB1_uc010gbv.1_Frame_Shift_Del_p.K158fs|PLCB1_uc002wmz.1_Frame_Shift_Del_p.K158fs|PLCB1_uc002wna.2_Frame_Shift_Del_p.K158fs|PLCB1_uc002wnc.1_Frame_Shift_Del_p.K57fs	85	GBM-06-2562-TP	p.K158fs	AACTT	AGCTATACTAAACTTAAGCTGCAAG	NM_015192	NP_056007	8628555	Q9NQ66	PLCB1_HUMAN	0			6	476_480	+	-	-			Frame_Shift_Del	158_159						
PLCB2	5330	broad.mit.edu	GRCh37	15	40583828	40583828	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260402.3:c.2626G>A	p.Glu876Lys	p.E876K	ENST00000260402	NM_004573.2	876	Gag/Aag	0			1			T	E/K	uc001zld.2	protein_coding	YES	CCDS42020.1			2626/3558									ovary(3)|breast(3)|kidney(1)|pancreas(1)	8	c.(2626-2628)GAG>AAG			hmmpanther:PTHR10336:SF10,hmmpanther:PTHR10336,PIRSF_domain:PIRSF000956	phospholipase C, beta 2				ENSP00000260402		25/32									COSM2149578,COSM2149577	25/32	.		ENST00000260402	Transcript			activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	ENSG00000137841	g.chr15:40583828C>T	9055			MODERATE		1.385	low	getma.org/?cm=msa&ty=f&p=PLCB2_HUMAN&rb=768&re=967&var=E876K	NA	getma.org/?cm=var&var=hg19,15,40583828,C,T&fts=all	E876K	--	--	1																																		PLCB2_uc001zlc.2_5'Flank|PLCB2_uc010bbo.2_Missense_Mutation_p.E872K|PLCB2_uc010ucm.1_Intron	1,1	1		benign(0.049)	p.E876K	NM_004573	NP_004564		tolerated(0.24)	1,1	PLCB2_HUMAN	PLCB2	HGNC	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	H0YNI4_HUMAN		25	2927	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	UPI0000D79B75	876					SNV	PLCB2,missense_variant,p.Glu876Lys,ENST00000260402,NM_004573.2;PLCB2,missense_variant,p.Glu872Lys,ENST00000557821,NM_001284297.1;PLCB2,intron_variant,,ENST00000456256,NM_001284298.1;PLCB2,upstream_gene_variant,,ENST00000559671,;PLCB2,3_prime_UTR_variant,,ENST00000558588,;PLCB2,upstream_gene_variant,,ENST00000559381,;PLCB2,upstream_gene_variant,,ENST00000560701,;PLCB2,upstream_gene_variant,,ENST00000560009,;PLCB2,downstream_gene_variant,,ENST00000561378,;PLCB2,upstream_gene_variant,,ENST00000558505,;PLCB2,upstream_gene_variant,,ENST00000559618,;PLCB2,downstream_gene_variant,,ENST00000558409,;	uc001zld.2	c.2626G>A	2876/4616	2	2			c.2626G>A						15	SNP	c.(2626-2628)GAG>AAG	32	32			ovary(3)|breast(3)|kidney(1)|pancreas(1)	8	Broad	phospholipase C, beta 2			40583828		0.706	ENSG00000137841	11831	g.chr15:40583828C>T	activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			1073			1073	26.867656	KEEP	6	4	-1	9	10	6	4	-1	27.299247	9	10	0.36	1	0	0	0	0	1	0	0	0	--	--		0	T			PLCB2_uc001zlc.2_5'Flank|PLCB2_uc010bbo.2_Missense_Mutation_p.E872K|PLCB2_uc010ucm.1_Intron	18	GBM-06-0137-TP	p.E876K	C	TTCATAGCCTCTTCCCTGGCC	NM_004573	NP_004564	40583828	Q00722	PLCB2_HUMAN	0		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	25	2927	-	T	T		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	Missense_Mutation	876						
PLCB2	5330	broad.mit.edu	GRCh37	15	40596215	40596215	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0882-01	TCGA-06-0882-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260402.3:c.149C>T	p.Thr50Met	p.T50M	ENST00000260402	NM_004573.2	50	aCg/aTg	0			1			A	T/M	uc001zld.2	protein_coding	YES	CCDS42020.1			149/3558									ovary(3)|breast(3)|kidney(1)|pancreas(1)	8	c.(148-150)ACG>ATG			hmmpanther:PTHR10336:SF10,hmmpanther:PTHR10336,PIRSF_domain:PIRSF000956,Superfamily_domains:SSF50729	phospholipase C, beta 2				ENSP00000260402		Feb-32	4.14E-05					5.27E-05		0.00045	rs761699247,COSM3401701,COSM3401700	Feb-32	common_variant		ENST00000260402	Transcript			activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	ENSG00000137841	g.chr15:40596215G>A	9055			MODERATE		1.035	low	getma.org/?cm=msa&ty=f&p=PLCB2_HUMAN&rb=1&re=200&var=T50M	getma.org/pdb.php?prot=PLCB2_HUMAN&from=1&to=200&var=T50M	getma.org/?cm=var&var=hg19,15,40596215,G,A&fts=all	T50M	--	--	1																																		PLCB2_uc010bbo.2_Missense_Mutation_p.T50M|PLCB2_uc010ucm.1_Missense_Mutation_p.T50M|PLCB2_uc001zle.3_Missense_Mutation_p.T50M	0,1,1	1		possibly_damaging(0.807)	p.T50M	NM_004573	NP_004564		deleterious(0.01)	0,1,1	PLCB2_HUMAN	PLCB2	HGNC	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	H0YNI4_HUMAN		2	450	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	UPI0000D79B75	50					SNV	PLCB2,missense_variant,p.Thr50Met,ENST00000260402,NM_004573.2;PLCB2,missense_variant,p.Thr50Met,ENST00000557821,NM_001284297.1;PLCB2,missense_variant,p.Thr50Met,ENST00000456256,NM_001284298.1;PLCB2,missense_variant,p.Thr50Met,ENST00000543785,NM_001284299.1;PLCB2-AS1,downstream_gene_variant,,ENST00000559520,;PLCB2,missense_variant,p.Thr50Met,ENST00000558588,;PLCB2,non_coding_transcript_exon_variant,,ENST00000559634,;PLCB2,upstream_gene_variant,,ENST00000560093,;	uc001zld.2	c.149C>T	399/4616	1	1			c.149C>T						15	SNP	c.(148-150)ACG>ATG	62	62			ovary(3)|breast(3)|kidney(1)|pancreas(1)	8	Broad	phospholipase C, beta 2			40596215		0.527	ENSG00000137841	11831	g.chr15:40596215G>A	activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			1073			1073	13.271876	KEEP	3	2	-1	4	6	3	2	-1	13.639948	4	6	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	A			PLCB2_uc010bbo.2_Missense_Mutation_p.T50M|PLCB2_uc010ucm.1_Missense_Mutation_p.T50M|PLCB2_uc001zle.3_Missense_Mutation_p.T50M	77	GBM-06-0882-TP	p.T50M	G	ACTTTGATACGTCCAGTATAA	NM_004573	NP_004564	40596215	Q00722	PLCB2_HUMAN	0		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	2	450	-	A	A		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	Missense_Mutation	50						
PLCB2	0	broad.mit.edu	GRCh37	15	40583002	40583002	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-14-0790-01	TCGA-14-0790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260402.3:c.3073C>G	p.Gln1025Glu	p.Q1025E	ENST00000260402	NM_004573.2	1025	Cag/Gag	0			1			C	Q/E	uc001zld.2	protein_coding	YES	CCDS42020.1			3073/3558									ovary(3)|breast(3)|kidney(1)|pancreas(1)	8	c.(3073-3075)CAG>GAG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10336:SF10,hmmpanther:PTHR10336,Pfam_domain:PF08703,Gene3D:1jadA00,PIRSF_domain:PIRSF000956,Superfamily_domains:0053448	phospholipase C, beta 2				ENSP00000260402		28/32									COSM3401697,COSM3401696	28/32	.		ENST00000260402	Transcript			activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	ENSG00000137841	g.chr15:40583002G>C	9055			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=PLCB2_HUMAN&rb=974&re=1156&var=Q1025E	getma.org/pdb.php?prot=PLCB2_HUMAN&from=974&to=1156&var=Q1025E	getma.org/?cm=var&var=hg19,15,40583002,G,C&fts=all	Q1025E	--	--	1																																		PLCB2_uc001zlc.2_Missense_Mutation_p.Q9E|PLCB2_uc010bbo.2_Missense_Mutation_p.Q1021E|PLCB2_uc010ucm.1_Missense_Mutation_p.Q1010E	1,1	1		possibly_damaging(0.559)	p.Q1025E	NM_004573	NP_004564		deleterious(0.02)	1,1	PLCB2_HUMAN	PLCB2	HGNC	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	H0YNI4_HUMAN		28	3374	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	UPI0000D79B75	1025			Potential.		SNV	PLCB2,missense_variant,p.Gln1025Glu,ENST00000260402,NM_004573.2;PLCB2,missense_variant,p.Gln1021Glu,ENST00000557821,NM_001284297.1;PLCB2,missense_variant,p.Gln1010Glu,ENST00000456256,NM_001284298.1;PLCB2,upstream_gene_variant,,ENST00000559671,;PLCB2,3_prime_UTR_variant,,ENST00000558588,;PLCB2,non_coding_transcript_exon_variant,,ENST00000559381,;PLCB2,non_coding_transcript_exon_variant,,ENST00000560701,;PLCB2,non_coding_transcript_exon_variant,,ENST00000558505,;PLCB2,upstream_gene_variant,,ENST00000560009,;PLCB2,downstream_gene_variant,,ENST00000561378,;PLCB2,upstream_gene_variant,,ENST00000559618,;	uc001zld.2	c.3073C>G	3323/4616	4	4			c.3073C>G						15	SNP	c.(3073-3075)CAG>GAG	35	35			ovary(3)|breast(3)|kidney(1)|pancreas(1)	8	Broad	phospholipase C, beta 2			40583002		0.587	ENSG00000137841	11831	g.chr15:40583002G>C	activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			1073			1073	67.446961	KEEP	12	11	-1	14	15	12	11	-1	67.533909	14	15	0.45	1	0	0	0	0	1	0	0	0	--	--		0	C			PLCB2_uc001zlc.2_Missense_Mutation_p.Q9E|PLCB2_uc010bbo.2_Missense_Mutation_p.Q1021E|PLCB2_uc010ucm.1_Missense_Mutation_p.Q1010E	137	GBM-14-0790-TP	p.Q1025E	G	TCTGCCGCCTGTTTCTCTCTG	NM_004573	NP_004564	40583002	Q00722	PLCB2_HUMAN	0		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	28	3374	-	C	C		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	Missense_Mutation	1025			Potential.			
PLCB2	5330		GRCh37	15	40590478	40590478	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000260402.3:c.1101C>T	p.Asp367=	p.D367=	ENST00000260402	NM_004573.2	367	gaC/gaT	0																																																																																																																																																																																																																																												
PLCB4	5332	broad.mit.edu	GRCh37	20	9417712	9417712	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01	TCGA-02-2470-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378501.2:c.2641G>A	p.Ala881Thr	p.A881T	ENST00000378501	NM_000933.3	881	Gcc/Acc	0	A:0.0009	A:0.0008	1	A:0		A	A/T	uc002wnf.2	protein_coding		CCDS13105.1			2641/3528									skin(11)|ovary(3)|pancreas(1)	15	c.(2641-2643)GCC>ACC			PIRSF_domain:PIRSF000956,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF78	phospholipase C beta 4 isoform b		A:0	A:0	ENSP00000278655	A:0	27/36	9.06E-05	0.000679		0.000117				0.000123	rs375191340,COSM3405304,COSM3405305	27/36	common_variant		ENST00000278655	Transcript	1	A:0.0002	intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	ENSG00000101333	g.chr20:9417712G>A	9059			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=PLCB4_HUMAN&rb=787&re=908&var=A881T	NA	getma.org/?cm=var&var=hg19,20,9417712,G,A&fts=all	A881T	--	--	1																																		PLCB4_uc010gbw.1_Missense_Mutation_p.A881T|PLCB4_uc010gbx.2_Missense_Mutation_p.A893T|PLCB4_uc002wne.2_Missense_Mutation_p.A881T|PLCB4_uc002wnh.2_Missense_Mutation_p.A728T	0,1,1			benign(0.001)	p.A881T	NM_182797	NP_877949	A:0	tolerated(0.61)	0,1,1	PLCB4_HUMAN	PLCB4	HGNC	Q15147	PLCB4_HUMAN			B1AJW4_HUMAN,B1AJW3_HUMAN,B1AJW2_HUMAN,B1AJW1_HUMAN		28	2777	+			UPI0000131A94	881					SNV	PLCB4,missense_variant,p.Ala881Thr,ENST00000378501,NM_000933.3;PLCB4,missense_variant,p.Ala881Thr,ENST00000378493,;PLCB4,missense_variant,p.Ala881Thr,ENST00000334005,;PLCB4,missense_variant,p.Ala893Thr,ENST00000378473,NM_001172646.1;PLCB4,missense_variant,p.Ala881Thr,ENST00000278655,NM_182797.2;PLCB4,missense_variant,p.Ala893Thr,ENST00000414679,;PLCB4,non_coding_transcript_exon_variant,,ENST00000492632,;PLCB4,non_coding_transcript_exon_variant,,ENST00000464199,;PLCB4,non_coding_transcript_exon_variant,,ENST00000482123,;PLCB4,non_coding_transcript_exon_variant,,ENST00000473151,;	uc002wnf.2	c.2641G>A	2719/5430	1	1			c.2641G>A						20	SNP	c.(2641-2643)GCC>ACC	52	52			skin(11)|ovary(3)|pancreas(1)	15	Broad	phospholipase C beta 4 isoform b			9417712		0.512	ENSG00000101333	11833	g.chr20:9417712G>A	intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity							-2.701036	KEEP	1	2	-1	20	30	1	2	-1	6.589621	20	30	0.06383	1	0	0	0	0	1	0	0	0	--	--		0	A			PLCB4_uc010gbw.1_Missense_Mutation_p.A881T|PLCB4_uc010gbx.2_Missense_Mutation_p.A893T|PLCB4_uc002wne.2_Missense_Mutation_p.A881T|PLCB4_uc002wnh.2_Missense_Mutation_p.A728T	5	GBM-02-2470-TP	p.A881T	G	GGCCAACACCGCCAAAGCAAA	NM_182797	NP_877949	9417712	Q15147	PLCB4_HUMAN	0			28	2777	+	A	A			Missense_Mutation	881						
PLCB4	0	broad.mit.edu	GRCh37	20	9370528	9370528	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C			TCGA-14-0817-01	TCGA-14-0817-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278655.4:c.1161T>C	p.Asp387=	p.D387=	ENST00000278655	NM_182797.2	387	gaT/gaC	0			1			C	D	uc002wnf.2	protein_coding		CCDS13105.1			1161/3528									skin(11)|ovary(3)|pancreas(1)	15	c.(1159-1161)GAT>GAC			Gene3D:3.20.20.190,Pfam_domain:PF00388,PIRSF_domain:PIRSF000956,PROSITE_profiles:PS50007,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF78,SMART_domains:SM00148,Superfamily_domains:SSF51695	phospholipase C beta 4 isoform b				ENSP00000278655		14/36									COSM3405302,COSM3405303	14/36	.		ENST00000278655	Transcript	1		intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	ENSG00000101333	g.chr20:9370528T>C	9059			LOW								--	--	1																																		PLCB4_uc010gbw.1_Silent_p.D387D|PLCB4_uc010gbx.2_Silent_p.D387D|PLCB4_uc002wne.2_Silent_p.D387D|PLCB4_uc002wnh.2_Silent_p.D234D	1,1				p.D387D	NM_182797	NP_877949			1,1	PLCB4_HUMAN	PLCB4	HGNC	Q15147	PLCB4_HUMAN			B1AJW4_HUMAN,B1AJW3_HUMAN,B1AJW2_HUMAN,B1AJW1_HUMAN		15	1297	+			UPI0000131A94	387			PI-PLC X-box.		SNV	PLCB4,splice_region_variant,p.=,ENST00000378501,NM_000933.3;PLCB4,splice_region_variant,p.=,ENST00000378493,;PLCB4,splice_region_variant,p.=,ENST00000334005,;PLCB4,splice_region_variant,p.=,ENST00000378473,NM_001172646.1;PLCB4,splice_region_variant,p.=,ENST00000278655,NM_182797.2;PLCB4,splice_region_variant,p.=,ENST00000414679,;PLCB4,splice_region_variant,,ENST00000492632,;PLCB4,splice_region_variant,,ENST00000464199,;PLCB4,splice_region_variant,,ENST00000482123,;PLCB4,splice_region_variant,,ENST00000473151,;	uc002wnf.2	c.1161T>C	1239/5430	4	4			c.1161T>C						20	SNP	c.(1159-1161)GAT>GAC	34	34			skin(11)|ovary(3)|pancreas(1)	15	Broad	phospholipase C beta 4 isoform b			9370528		0.333	ENSG00000101333	11833	g.chr20:9370528T>C	intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity							-42.668696	KEEP	1	3	-1	117	89	1	3	-1	7.258776	117	89	0.020619	1	0	0	0	0	0	0	1	0	--	--		0	C			PLCB4_uc010gbw.1_Silent_p.D387D|PLCB4_uc010gbx.2_Silent_p.D387D|PLCB4_uc002wne.2_Silent_p.D387D|PLCB4_uc002wnh.2_Silent_p.D234D	139	GBM-14-0817-TP	p.D387D	T	TTTTAAAGGATGTAATTCAAG	NM_182797	NP_877949	9370528	Q15147	PLCB4_HUMAN	0			15	1297	+	C	C			Silent	387			PI-PLC X-box.			
PLCD1	5333	broad.mit.edu	GRCh37	3	38050824	38050824	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000463876.1:c.1608G>T	p.Gln536His	p.Q536H	ENST00000463876	NM_001130964.1	536	caG/caT	0			1			A	Q/H	uc003chn.2	protein_coding		CCDS2671.1			1545/2271									skin(1)	1	c.(1543-1545)CAG>CAT			Gene3D:3.20.20.190,Pfam_domain:PF00387,PROSITE_profiles:PS50008,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF80,SMART_domains:SM00149,Superfamily_domains:SSF51695	phospholipase C, delta 1 isoform 2				ENSP00000335600		15-Oct									COSM3408621,COSM3408620	15-Oct	.		ENST00000334661	Transcript	1		intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity	ENSG00000187091	g.chr3:38050824C>A	9060			MODERATE		0.745	neutral	getma.org/?cm=msa&ty=f&p=PLCD1_HUMAN&rb=491&re=609&var=Q515H	getma.org/pdb.php?prot=PLCD1_HUMAN&from=491&to=609&var=Q515H	getma.org/?cm=var&var=hg19,3,38050824,C,A&fts=all	Q515H	--	--	1																																		PLCD1_uc003chm.2_Missense_Mutation_p.Q536H	1,1			possibly_damaging(0.797)	p.Q515H	NM_006225	NP_006216		tolerated(0.26)	1,1	PLCD1_HUMAN	PLCD1	HGNC	P51178	PLCD1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)			10	1669	-			UPI00001D6EE1	515			PI-PLC Y-box.		SNV	PLCD1,missense_variant,p.Gln536His,ENST00000463876,NM_001130964.1;PLCD1,missense_variant,p.Gln515His,ENST00000334661,NM_006225.3;VILL,downstream_gene_variant,,ENST00000283713,;VILL,downstream_gene_variant,,ENST00000383759,NM_015873.3;VILL,downstream_gene_variant,,ENST00000465644,;PLCD1,downstream_gene_variant,,ENST00000479619,;PLCD1,non_coding_transcript_exon_variant,,ENST00000461445,;PLCD1,non_coding_transcript_exon_variant,,ENST00000484829,;PLCD1,non_coding_transcript_exon_variant,,ENST00000495367,;VILL,downstream_gene_variant,,ENST00000486616,;PLCD1,upstream_gene_variant,,ENST00000417185,;VILL,downstream_gene_variant,,ENST00000488209,;PLCD1,upstream_gene_variant,,ENST00000495395,;	uc003chn.2	c.1545G>T	1768/2769	2	2			c.1545G>T						3	SNP	c.(1543-1545)CAG>CAT	23	23			skin(1)	1	Broad	phospholipase C, delta 1 isoform 2			38050824		0.577	ENSG00000187091	11834	g.chr3:38050824C>A	intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity							144.271557	KEEP	22	29	0.568627451	32	34	22	29	0.568627451	144.649957	32	34	0.4375	1	0	0	0	0	1	0	0	0	--	--		0	A			PLCD1_uc003chm.2_Missense_Mutation_p.Q536H	65	GBM-06-0743-TP	p.Q515H	C	CGTAGAAGGCCTGTCCAGGGG	NM_006225	NP_006216	38050824	P51178	PLCD1_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	10	1669	-	A	A			Missense_Mutation	515			PI-PLC Y-box.			
PLCE1	51196	broad.mit.edu	GRCh37	10	95995711	95995711	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371380.3:c.2254C>T	p.Arg752Ter	p.R752*	ENST00000371380		752	Cga/Tga	0			1			T	R/*	uc001kjk.2	protein_coding		CCDS41552.1			2254/6909									ovary(2)|skin(1)	3	c.(2254-2256)CGA>TGA			PROSITE_profiles:PS50009,SMART_domains:SM00147	phospholipase C, epsilon 1 isoform 1				ENSP00000260766		Jul-33	8.28E-06							6.07E-05	rs750405323,COSM1970369,COSM1970367,COSM1970368	Jul-33	.		ENST00000260766	Transcript	1		activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	ENSG00000138193	g.chr10:95995711C>T	17175			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,10,95995711,C,T&fts=all	R752*	--	--	1																																		PLCE1_uc010qnx.1_Nonsense_Mutation_p.R752*|PLCE1_uc001kjm.2_Nonsense_Mutation_p.R444*	0,1,1,1				p.R752*	NM_016341	NP_057425			0,1,1,1	PLCE1_HUMAN	PLCE1	HGNC	Q9P212	PLCE1_HUMAN			B7ZM61_HUMAN		7	2888	+		Colorectal(252;0.0458)	UPI00001F93EE	752			Ras-GEF.		SNV	PLCE1,stop_gained,p.Arg752Ter,ENST00000371380,;PLCE1,stop_gained,p.Arg752Ter,ENST00000260766,NM_016341.3;PLCE1,stop_gained,p.Arg444Ter,ENST00000371375,;PLCE1,stop_gained,p.Arg444Ter,ENST00000371385,NM_001165979.1;	uc001kjk.2	c.2254C>T	2888/7992	5	2			c.2254C>T						10	SNP	c.(2254-2256)CGA>TGA	48	48			ovary(2)|skin(1)	3	Broad	phospholipase C, epsilon 1 isoform 1			95995711		0.408	ENSG00000138193	11837	g.chr10:95995711C>T	activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity							-0.442898	KEEP	4	5	-1	47	46	4	5	-1	15.962442	47	46	0.077778	1	0	0	0	0	0	1	0	0	--	--		0	T			PLCE1_uc010qnx.1_Nonsense_Mutation_p.R752*|PLCE1_uc001kjm.2_Nonsense_Mutation_p.R444*	102	GBM-06-5858-TP	p.R752*	C	TTTCTTACAACGAGTGGGACA	NM_016341	NP_057425	95995711	Q9P212	PLCE1_HUMAN	0			7	2888	+	T	T		Colorectal(252;0.0458)	Nonsense_Mutation	752			Ras-GEF.			
PLCE1	0	broad.mit.edu	GRCh37	10	95791394	95791394	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6193-01	TCGA-76-6193-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260766.3:c.591G>A	p.Met197Ile	p.M197I	ENST00000260766	NM_016341.3	197	atG/atA	0			1			A	M/I	uc001kjk.2	protein_coding		CCDS41552.1			591/6909									ovary(2)|skin(1)	3	c.(589-591)ATG>ATA				phospholipase C, epsilon 1 isoform 1				ENSP00000260766		Feb-33									COSM3397317,COSM3397316	Feb-33	.		ENST00000260766	Transcript	1		activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	ENSG00000138193	g.chr10:95791394G>A	17175			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=PLCE1_HUMAN&rb=1&re=371&var=M197I	NA	getma.org/?cm=var&var=hg19,10,95791394,G,A&fts=all	M197I	--	--	1																																		PLCE1_uc010qnx.1_Missense_Mutation_p.M197I	1,1			benign(0)	p.M197I	NM_016341	NP_057425		tolerated_low_confidence(0.53)	1,1	PLCE1_HUMAN	PLCE1	HGNC	Q9P212	PLCE1_HUMAN			B7ZM61_HUMAN		2	1225	+		Colorectal(252;0.0458)	UPI00001F93EE	197					SNV	PLCE1,missense_variant,p.Met197Ile,ENST00000371380,;PLCE1,missense_variant,p.Met197Ile,ENST00000260766,NM_016341.3;	uc001kjk.2	c.591G>A	1225/7992	2	2			c.591G>A						10	SNP	c.(589-591)ATG>ATA	29	29			ovary(2)|skin(1)	3	Broad	phospholipase C, epsilon 1 isoform 1			95791394		0.408	ENSG00000138193	11837	g.chr10:95791394G>A	activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity							61.127137	KEEP	11	20	-1	31	49	11	20	-1	65.618191	31	49	0.268817	1	0	0	0	0	1	0	0	0	--	--		0	A			PLCE1_uc010qnx.1_Missense_Mutation_p.M197I	276	GBM-76-6193-TP	p.M197I	G	ACAGAAGAATGTCAGACACTT	NM_016341	NP_057425	95791394	Q9P212	PLCE1_HUMAN	0			2	1225	+	A	A		Colorectal(252;0.0458)	Missense_Mutation	197						
PLCG1	5335	broad.mit.edu	GRCh37	20	39801169	39801169	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01	TCGA-06-0192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373272.2:c.3014G>A	p.Arg1005Gln	p.R1005Q	ENST00000373272	NM_002660.2	1005	cGa/cAa	0			1			A	R/Q	uc002xjp.1	protein_coding		CCDS13314.1			3014/3873									lung(3)|breast(3)|skin(2)	8	c.(3013-3015)CGA>CAA			Gene3D:3.20.20.190,Pfam_domain:PF00387,PIRSF_domain:PIRSF000952,PROSITE_profiles:PS50008,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF52,SMART_domains:SM00149,Superfamily_domains:SSF51695	phospholipase C, gamma 1 isoform b				ENSP00000362368		26/32	8.24E-06					1.50E-05			rs768105603,COSM2150662	26/32	.		ENST00000373271	Transcript			activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	ENSG00000124181	g.chr20:39801169G>A	9065			MODERATE		0.665	neutral	getma.org/?cm=msa&ty=f&p=PLCG1_HUMAN&rb=952&re=1070&var=R1005Q	getma.org/pdb.php?prot=PLCG1_HUMAN&from=952&to=1070&var=R1005Q	getma.org/?cm=var&var=hg19,20,39801169,G,A&fts=all	R1005Q	--	--	1																																		PLCG1_uc002xjo.1_Missense_Mutation_p.R1005Q|PLCG1_uc010zwe.1_Missense_Mutation_p.R631Q	0,1			possibly_damaging(0.744)	p.R1005Q	NM_182811	NP_877963		tolerated(0.45)	0,1	PLCG1_HUMAN	PLCG1	HGNC	P19174	PLCG1_HUMAN					26	3135	+		Myeloproliferative disorder(115;0.00878)	UPI0000131AA5	1005			PI-PLC Y-box.		SNV	PLCG1,missense_variant,p.Arg1005Gln,ENST00000373272,NM_002660.2;PLCG1,missense_variant,p.Arg1005Gln,ENST00000373271,NM_182811.1;PLCG1,missense_variant,p.Arg1005Gln,ENST00000244007,;PLCG1,non_coding_transcript_exon_variant,,ENST00000608689,;PLCG1,upstream_gene_variant,,ENST00000609821,;PLCG1,missense_variant,p.Arg5Gln,ENST00000608885,;PLCG1,3_prime_UTR_variant,,ENST00000599785,;PLCG1,non_coding_transcript_exon_variant,,ENST00000461641,;PLCG1,downstream_gene_variant,,ENST00000477870,;PLCG1,upstream_gene_variant,,ENST00000607954,;PLCG1,upstream_gene_variant,,ENST00000609257,;PLCG1,downstream_gene_variant,,ENST00000483175,;	uc002xjp.1	c.3014G>A	3419/5490	2	2			c.3014G>A						20	SNP	c.(3013-3015)CGA>CAA	21	21			lung(3)|breast(3)|skin(2)	8	Broad	phospholipase C, gamma 1 isoform b			39801169		0.542	ENSG00000124181	11838	g.chr20:39801169G>A	activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			429			429	48.120983	KEEP	11	10	-1	45	37	11	10	-1	55.705159	45	37	0.212121	1	0	0	0	0	1	0	0	0	--	--		0	A			PLCG1_uc002xjo.1_Missense_Mutation_p.R1005Q|PLCG1_uc010zwe.1_Missense_Mutation_p.R631Q	44	GBM-06-0192-TP	p.R1005Q	G	CAGTACAATCGACTGCAGCTC	NM_182811	NP_877963	39801169	P19174	PLCG1_HUMAN	0			26	3135	+	A	A		Myeloproliferative disorder(115;0.00878)	Missense_Mutation	1005			PI-PLC Y-box.			
PLCG1	5335	broad.mit.edu	GRCh37	20	39802384	39802384	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01	TCGA-06-0195-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373272.2:c.3487G>A	p.Glu1163Lys	p.E1163K	ENST00000373272	NM_002660.2	1163	Gag/Aag	0			1			A	E/K	uc002xjp.1	protein_coding		CCDS13314.1			3487/3873									lung(3)|breast(3)|skin(2)	8	c.(3487-3489)GAG>AAG			Gene3D:2.60.40.150,Pfam_domain:PF00168,PIRSF_domain:PIRSF000952,PROSITE_profiles:PS50004,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF52,SMART_domains:SM00239,Superfamily_domains:SSF49562	phospholipase C, gamma 1 isoform b				ENSP00000362368		29/32									COSM3405078	29/32	.		ENST00000373271	Transcript			activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	ENSG00000124181	g.chr20:39802384G>A	9065			MODERATE		2.675	medium	getma.org/?cm=msa&ty=f&p=PLCG1_HUMAN&rb=1090&re=1177&var=E1163K	getma.org/pdb.php?prot=PLCG1_HUMAN&from=1090&to=1177&var=E1163K	getma.org/?cm=var&var=hg19,20,39802384,G,A&fts=all	E1163K	--	--	1																																OREG0025953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	PLCG1_uc002xjo.1_Missense_Mutation_p.E1163K|PLCG1_uc010zwe.1_Missense_Mutation_p.E828K	1			possibly_damaging(0.723)	p.E1163K	NM_182811	NP_877963		deleterious(0.01)	1	PLCG1_HUMAN	PLCG1	HGNC	P19174	PLCG1_HUMAN					29	3608	+		Myeloproliferative disorder(115;0.00878)	UPI0000131AA5	1163			C2.		SNV	PLCG1,missense_variant,p.Glu1163Lys,ENST00000373272,NM_002660.2;PLCG1,missense_variant,p.Glu1163Lys,ENST00000373271,NM_182811.1;PLCG1,missense_variant,p.Glu1163Lys,ENST00000244007,;ZHX3,downstream_gene_variant,,ENST00000309060,;ZHX3,downstream_gene_variant,,ENST00000540170,NM_015035.3;ZHX3,downstream_gene_variant,,ENST00000421422,;PLCG1,non_coding_transcript_exon_variant,,ENST00000608689,;PLCG1,non_coding_transcript_exon_variant,,ENST00000609821,;PLCG1,missense_variant,p.Glu6Lys,ENST00000609257,;PLCG1,missense_variant,p.Glu163Lys,ENST00000608885,;PLCG1,3_prime_UTR_variant,,ENST00000599785,;PLCG1,non_coding_transcript_exon_variant,,ENST00000461641,;PLCG1,downstream_gene_variant,,ENST00000477870,;PLCG1,upstream_gene_variant,,ENST00000607954,;PLCG1,downstream_gene_variant,,ENST00000483175,;	uc002xjp.1	c.3487G>A	3892/5490	2	2			c.3487G>A						20	SNP	c.(3487-3489)GAG>AAG	36	36			lung(3)|breast(3)|skin(2)	8	Broad	phospholipase C, gamma 1 isoform b			39802384		0.517	ENSG00000124181	11838	g.chr20:39802384G>A	activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			429			429	253.714129	KEEP	51	48	-1	85	77	51	48	-1	256.748012	85	77	0.378723	1	0	0	0	0	1	0	0	0	--	--		0	A	OREG0025953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	PLCG1_uc002xjo.1_Missense_Mutation_p.E1163K|PLCG1_uc010zwe.1_Missense_Mutation_p.E828K	45	GBM-06-0195-TP	p.E1163K	G	CGTGGTGTATGAGGAAGACAT	NM_182811	NP_877963	39802384	P19174	PLCG1_HUMAN	0			29	3608	+	A	A		Myeloproliferative disorder(115;0.00878)	Missense_Mutation	1163			C2.			
PLCG1	5335	broad.mit.edu	GRCh37	20	39788360	39788360	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0648-01	TCGA-06-0648-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373272.2:c.332A>G	p.Tyr111Cys	p.Y111C	ENST00000373272	NM_002660.2	111	tAt/tGt	0			1			G	Y/C	uc002xjp.1	protein_coding		CCDS13314.1			332/3873									lung(3)|breast(3)|skin(2)	8	c.(331-333)TAT>TGT			Gene3D:2.30.29.30,PIRSF_domain:PIRSF000952,PROSITE_profiles:PS50003,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF52,SMART_domains:SM00233,Superfamily_domains:SSF50729	phospholipase C, gamma 1 isoform b				ENSP00000362368		Feb-32	3.29E-05	9.61E-05				4.50E-05			rs766543085,COSM2151410	Feb-32	.		ENST00000373271	Transcript			activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	ENSG00000124181	g.chr20:39788360A>G	9065			MODERATE		2.805	medium	getma.org/?cm=msa&ty=f&p=PLCG1_HUMAN&rb=27&re=142&var=Y111C	NA	getma.org/?cm=var&var=hg19,20,39788360,A,G&fts=all	Y111C	--	--	1																																		PLCG1_uc002xjo.1_Missense_Mutation_p.Y111C	0,1			benign(0.03)	p.Y111C	NM_182811	NP_877963		deleterious(0.02)	0,1	PLCG1_HUMAN	PLCG1	HGNC	P19174	PLCG1_HUMAN					2	453	+		Myeloproliferative disorder(115;0.00878)	UPI0000131AA5	111			PH 1.		SNV	PLCG1,missense_variant,p.Tyr111Cys,ENST00000373272,NM_002660.2;PLCG1,missense_variant,p.Tyr111Cys,ENST00000373271,NM_182811.1;PLCG1,missense_variant,p.Tyr111Cys,ENST00000244007,;PLCG1,non_coding_transcript_exon_variant,,ENST00000483646,;PLCG1,non_coding_transcript_exon_variant,,ENST00000490253,;PLCG1,upstream_gene_variant,,ENST00000492148,;PLCG1,upstream_gene_variant,,ENST00000470528,;	uc002xjp.1	c.332A>G	737/5490	3	3			c.332A>G						20	SNP	c.(331-333)TAT>TGT	12	12			lung(3)|breast(3)|skin(2)	8	Broad	phospholipase C, gamma 1 isoform b			39788360		0.537	ENSG00000124181	11838	g.chr20:39788360A>G	activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			429			429	256.1596	KEEP	38	38	-1	49	42	38	38	-1	256.331184	49	42	0.463576	1	0	0	0	0	1	0	0	0	--	--		0	G			PLCG1_uc002xjo.1_Missense_Mutation_p.Y111C	61	GBM-06-0648-TP	p.Y111C	A	GTCATTCTCTATGGAATGGAA	NM_182811	NP_877963	39788360	P19174	PLCG1_HUMAN	0			2	453	+	G	G		Myeloproliferative disorder(115;0.00878)	Missense_Mutation	111			PH 1.			
PLCG1	5335	broad.mit.edu	GRCh37	20	39795447	39795447	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0743-01	TCGA-06-0743-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373272.2:c.2249T>G	p.Met750Arg	p.M750R	ENST00000373272	NM_002660.2	750	aTg/aGg	0			1			G	M/R	uc002xjp.1	protein_coding		CCDS13314.1			2249/3873									lung(3)|breast(3)|skin(2)	8	c.(2248-2250)ATG>AGG			Gene3D:3.30.505.10,PIRSF_domain:PIRSF000952,PROSITE_profiles:PS50001,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF52,Superfamily_domains:SSF55550	phospholipase C, gamma 1 isoform b				ENSP00000362368		19/32									COSM3405076	19/32	.		ENST00000373271	Transcript			activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	ENSG00000124181	g.chr20:39795447T>G	9065			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=PLCG1_HUMAN&rb=668&re=756&var=M750R	getma.org/pdb.php?prot=PLCG1_HUMAN&from=668&to=756&var=M750R	getma.org/?cm=var&var=hg19,20,39795447,T,G&fts=all	M750R	--	--	1																																		PLCG1_uc002xjo.1_Missense_Mutation_p.M750R|PLCG1_uc010zwe.1_Missense_Mutation_p.M376R|PLCG1_uc010ggf.2_Missense_Mutation_p.M100R	1			possibly_damaging(0.86)	p.M750R	NM_182811	NP_877963		deleterious(0)	1	PLCG1_HUMAN	PLCG1	HGNC	P19174	PLCG1_HUMAN					19	2370	+		Myeloproliferative disorder(115;0.00878)	UPI0000131AA5	750			SH2 2.		SNV	PLCG1,missense_variant,p.Met750Arg,ENST00000373272,NM_002660.2;PLCG1,missense_variant,p.Met750Arg,ENST00000373271,NM_182811.1;PLCG1,missense_variant,p.Met750Arg,ENST00000244007,;PLCG1,non_coding_transcript_exon_variant,,ENST00000465571,;PLCG1,downstream_gene_variant,,ENST00000483646,;PLCG1,downstream_gene_variant,,ENST00000473632,;PLCG1,upstream_gene_variant,,ENST00000477870,;PLCG1,upstream_gene_variant,,ENST00000599785,;PLCG1,upstream_gene_variant,,ENST00000483175,;PLCG1,downstream_gene_variant,,ENST00000492148,;PLCG1,downstream_gene_variant,,ENST00000470528,;	uc002xjp.1	c.2249T>G	2654/5490	4	4			c.2249T>G						20	SNP	c.(2248-2250)ATG>AGG	32	32			lung(3)|breast(3)|skin(2)	8	Broad	phospholipase C, gamma 1 isoform b			39795447		0.572	ENSG00000124181	11838	g.chr20:39795447T>G	activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			429			429	189.838852	KEEP	32	36	-1	56	70	32	36	-1	194.542556	56	70	0.325714	1	0	0	0	0	1	0	0	0	--	--		0	G			PLCG1_uc002xjo.1_Missense_Mutation_p.M750R|PLCG1_uc010zwe.1_Missense_Mutation_p.M376R|PLCG1_uc010ggf.2_Missense_Mutation_p.M100R	65	GBM-06-0743-TP	p.M750R	T	TACCGCAAGATGAAGCTGCGC	NM_182811	NP_877963	39795447	P19174	PLCG1_HUMAN	0			19	2370	+	G	G		Myeloproliferative disorder(115;0.00878)	Missense_Mutation	750			SH2 2.			
PLCG1	5335	broad.mit.edu	GRCh37	20	39795453	39795453	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0743-01	TCGA-06-0743-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373272.2:c.2255T>A	p.Leu752Gln	p.L752Q	ENST00000373272	NM_002660.2	752	cTg/cAg	0			1			A	L/Q	uc002xjp.1	protein_coding		CCDS13314.1			2255/3873									lung(3)|breast(3)|skin(2)	8	c.(2254-2256)CTG>CAG			Gene3D:3.30.505.10,PIRSF_domain:PIRSF000952,PROSITE_profiles:PS50001,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF52,Superfamily_domains:SSF55550	phospholipase C, gamma 1 isoform b				ENSP00000362368		19/32									COSM3405077	19/32	.		ENST00000373271	Transcript			activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	ENSG00000124181	g.chr20:39795453T>A	9065			MODERATE		4.41	high	getma.org/?cm=msa&ty=f&p=PLCG1_HUMAN&rb=668&re=756&var=L752Q	getma.org/pdb.php?prot=PLCG1_HUMAN&from=668&to=756&var=L752Q	getma.org/?cm=var&var=hg19,20,39795453,T,A&fts=all	L752Q	--	--	1																																		PLCG1_uc002xjo.1_Missense_Mutation_p.L752Q|PLCG1_uc010zwe.1_Missense_Mutation_p.L378Q|PLCG1_uc010ggf.2_Missense_Mutation_p.L102Q	1			probably_damaging(1)	p.L752Q	NM_182811	NP_877963		deleterious(0)	1	PLCG1_HUMAN	PLCG1	HGNC	P19174	PLCG1_HUMAN					19	2376	+		Myeloproliferative disorder(115;0.00878)	UPI0000131AA5	752			SH2 2.		SNV	PLCG1,missense_variant,p.Leu752Gln,ENST00000373272,NM_002660.2;PLCG1,missense_variant,p.Leu752Gln,ENST00000373271,NM_182811.1;PLCG1,missense_variant,p.Leu752Gln,ENST00000244007,;PLCG1,non_coding_transcript_exon_variant,,ENST00000465571,;PLCG1,downstream_gene_variant,,ENST00000483646,;PLCG1,downstream_gene_variant,,ENST00000473632,;PLCG1,upstream_gene_variant,,ENST00000477870,;PLCG1,upstream_gene_variant,,ENST00000599785,;PLCG1,upstream_gene_variant,,ENST00000483175,;PLCG1,downstream_gene_variant,,ENST00000492148,;PLCG1,downstream_gene_variant,,ENST00000470528,;	uc002xjp.1	c.2255T>A	2660/5490	2	2			c.2255T>A						20	SNP	c.(2254-2256)CTG>CAG	18	18			lung(3)|breast(3)|skin(2)	8	Broad	phospholipase C, gamma 1 isoform b			39795453		0.567	ENSG00000124181	11838	g.chr20:39795453T>A	activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			429			429	146.94339	KEEP	33	30	-1	56	67	33	30	-1	152.371242	56	67	0.309524	1	0	0	0	0	1	0	0	0	--	--		0	A			PLCG1_uc002xjo.1_Missense_Mutation_p.L752Q|PLCG1_uc010zwe.1_Missense_Mutation_p.L378Q|PLCG1_uc010ggf.2_Missense_Mutation_p.L102Q	65	GBM-06-0743-TP	p.L752Q	T	AAGATGAAGCTGCGCTATCCC	NM_182811	NP_877963	39795453	P19174	PLCG1_HUMAN	0			19	2376	+	A	A		Myeloproliferative disorder(115;0.00878)	Missense_Mutation	752			SH2 2.			
PLCG1	0	broad.mit.edu	GRCh37	20	39794468	39794468	+	splice_donor_variant	Splice_Site	SNP	T	T	C			TCGA-76-6282-01	TCGA-76-6282-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373271.1:c.1799+2T>C		p.X600_splice	ENST00000373271	NM_182811.1			0			1			C		uc002xjp.1	protein_coding		CCDS13314.1			1799/3873									lung(3)|breast(3)|skin(2)	8	c.e16+2				phospholipase C, gamma 1 isoform b				ENSP00000362368											COSM3405075		.		ENST00000373271	Transcript			activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	ENSG00000124181	g.chr20:39794468T>C	9065			HIGH	16/31							--	--	1																																		PLCG1_uc002xjo.1_Splice_Site_p.W600_splice|PLCG1_uc010zwe.1_Splice_Site_p.W226_splice|PLCG1_uc010ggf.2_5'Flank	1				p.W600_splice	NM_182811	NP_877963			1	PLCG1_HUMAN	PLCG1	HGNC	P19174	PLCG1_HUMAN					16	1920	+		Myeloproliferative disorder(115;0.00878)	UPI0000131AA5						SNV	PLCG1,splice_donor_variant,,ENST00000373272,NM_002660.2;PLCG1,splice_donor_variant,,ENST00000373271,NM_182811.1;PLCG1,splice_donor_variant,,ENST00000244007,;PLCG1,non_coding_transcript_exon_variant,,ENST00000473632,;PLCG1,upstream_gene_variant,,ENST00000465571,;PLCG1,downstream_gene_variant,,ENST00000483646,;PLCG1,upstream_gene_variant,,ENST00000477870,;PLCG1,upstream_gene_variant,,ENST00000599785,;PLCG1,upstream_gene_variant,,ENST00000483175,;PLCG1,downstream_gene_variant,,ENST00000492148,;PLCG1,downstream_gene_variant,,ENST00000470528,;	uc002xjp.1	c.1799_splice	-/5490	5	3			c.1799_splice						20	SNP	c.e16+2	10	10			lung(3)|breast(3)|skin(2)	8	Broad	phospholipase C, gamma 1 isoform b			39794468		0.522	ENSG00000124181	11838	g.chr20:39794468T>C	activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			429			429	-1.714332	KEEP	3	0	-1	23	30	3	0	-1	8.403823	23	30	0.06	1	0	0	0	0	0	0	0	1	--	--		0	C			PLCG1_uc002xjo.1_Splice_Site_p.W600_splice|PLCG1_uc010zwe.1_Splice_Site_p.W226_splice|PLCG1_uc010ggf.2_5'Flank	278	GBM-76-6282-TP	p.W600_splice	T	CTCTTTCTGGTAACACTTCCC	NM_182811	NP_877963	39794468	P19174	PLCG1_HUMAN	0			16	1920	+	C	C		Myeloproliferative disorder(115;0.00878)	Splice_Site							
PLCG2	0	broad.mit.edu	GRCh37	16	81953271	81953271	+	splice_donor_variant	Splice_Site	SNP	T	T	A			TCGA-06-6695-01	TCGA-06-6695-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359376.3:c.2235+2T>A		p.X745_splice	ENST00000359376	NM_002661.3			0			1			A		uc002fgt.2	protein_coding	YES	CCDS42204.1			2235/3798									large_intestine(4)|lung(2)|ovary(1)|skin(1)	8	c.e20+2				phospholipase C, gamma 2				ENSP00000352336											COSM3402510,COSM3402509		.		ENST00000359376	Transcript	1		intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	ENSG00000197943	g.chr16:81953271T>A	9066			HIGH	20/32							--	--	1																																		PLCG2_uc010chg.1_Splice_Site_p.M745_splice	1,1	1			p.M745_splice	NM_002661	NP_002652			1,1	PLCG2_HUMAN	PLCG2	HGNC	P16885	PLCG2_HUMAN			H3BQV5_HUMAN		20	2387	+			UPI00001411F7						SNV	PLCG2,splice_donor_variant,,ENST00000359376,NM_002661.3;PLCG2,splice_donor_variant,,ENST00000567980,;PLCG2,upstream_gene_variant,,ENST00000570196,;	uc002fgt.2	c.2235_splice	-/4308	5	1			c.2235_splice						16	SNP	c.e20+2	56	56			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8	Broad	phospholipase C, gamma 2			81953271		0.418	ENSG00000197943	11839	g.chr16:81953271T>A	intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			1880			1880	38.240058	KEEP	6	10	-1	20	12	6	10	-1	39.398187	20	12	0.325581	1	0	0	0	0	0	0	0	1	--	--		0	A			PLCG2_uc010chg.1_Splice_Site_p.M745_splice	110	GBM-06-6695-TP	p.M745_splice	T	TACAATATGGTAGGTGGTGGA	NM_002661	NP_002652	81953271	P16885	PLCG2_HUMAN	0			20	2387	+	A	A			Splice_Site							
PLCG2	0	broad.mit.edu	GRCh37	16	81953214	81953214	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359376.3:c.2180G>A	p.Arg727Gln	p.R727Q	ENST00000359376	NM_002661.3	727	cGa/cAa	0	A:0		1			A	R/Q	uc002fgt.2	protein_coding	YES	CCDS42204.1			2180/3798									large_intestine(4)|lung(2)|ovary(1)|skin(1)	8	c.(2179-2181)CGA>CAA			Gene3D:3.30.505.10,PIRSF_domain:PIRSF000952,PROSITE_profiles:PS50001,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF25,Superfamily_domains:SSF55550	phospholipase C, gamma 2			A:0.0001	ENSP00000352336		20/33	1.65E-05		8.64E-05			1.50E-05			rs369516453,COSM2155250,COSM2155249	20/33	.		ENST00000359376	Transcript	1		intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	ENSG00000197943	g.chr16:81953214G>A	9066			MODERATE		1.75	low	getma.org/?cm=msa&ty=f&p=PLCG2_HUMAN&rb=646&re=735&var=R727Q	getma.org/pdb.php?prot=PLCG2_HUMAN&from=646&to=735&var=R727Q	getma.org/?cm=var&var=hg19,16,81953214,G,A&fts=all	R727Q	--	--	1																																		PLCG2_uc010chg.1_Missense_Mutation_p.R727Q	0,1,1	1		probably_damaging(0.982)	p.R727Q	NM_002661	NP_002652		deleterious(0)	0,1,1	PLCG2_HUMAN	PLCG2	HGNC	P16885	PLCG2_HUMAN			H3BQV5_HUMAN		20	2332	+			UPI00001411F7	727			SH2 2.		SNV	PLCG2,missense_variant,p.Arg727Gln,ENST00000359376,NM_002661.3;PLCG2,non_coding_transcript_exon_variant,,ENST00000567980,;PLCG2,upstream_gene_variant,,ENST00000570196,;	uc002fgt.2	c.2180G>A	2394/4308	1	1			c.2180G>A						16	SNP	c.(2179-2181)CGA>CAA	54	54			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8	Broad	phospholipase C, gamma 2			81953214		0.557	ENSG00000197943	11839	g.chr16:81953214G>A	intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity		p.R727Q(SNU81-Tumor)	1880		p.R727Q(SNU81-Tumor)	1880	65.195643	KEEP	14	15	-1	42	49	14	15	-1	71.819978	42	49	0.240741	1	0	0	0	0	1	0	0	0	--	--		0	A			PLCG2_uc010chg.1_Missense_Mutation_p.R727Q	142	GBM-14-1034-TP	p.R727Q	G	TCACTCTACCGAAAGATGAGA	NM_002661	NP_002652	81953214	P16885	PLCG2_HUMAN	0			20	2332	+	A	A			Missense_Mutation	727			SH2 2.			
PLCG2	0	broad.mit.edu	GRCh37	16	81942161	81942161	+	synonymous_variant	Silent	SNP	C	C	T	rs11548654		TCGA-32-4210-01	TCGA-32-4210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359376.3:c.1698C>T	p.Ser566=	p.S566=	ENST00000359376	NM_002661.3	566	agC/agT	0	T:0		1			T	S	uc002fgt.2	protein_coding	YES	CCDS42204.1			1698/3798									large_intestine(4)|lung(2)|ovary(1)|skin(1)	8	c.(1696-1698)AGC>AGT			Gene3D:3.30.505.10,Pfam_domain:PF00017,PIRSF_domain:PIRSF000952,PROSITE_profiles:PS50001,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF25,SMART_domains:SM00252,Superfamily_domains:SSF55550	phospholipase C, gamma 2			T:0.0001	ENSP00000352336		17/33	8.27E-06					1.53E-05			rs11548654,COSM3402506,COSM3402505	17/33	.		ENST00000359376	Transcript	1		intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	ENSG00000197943	g.chr16:81942161C>T	9066			LOW								--	--	1																																		PLCG2_uc010chg.1_Silent_p.S566S	0,1,1	1			p.S566S	NM_002661	NP_002652			0,1,1	PLCG2_HUMAN	PLCG2	HGNC	P16885	PLCG2_HUMAN			H3BQV5_HUMAN		17	1850	+			UPI00001411F7	566			SH2 1.		SNV	PLCG2,synonymous_variant,p.=,ENST00000359376,NM_002661.3;PLCG2,non_coding_transcript_exon_variant,,ENST00000567980,;PLCG2,downstream_gene_variant,,ENST00000570198,;PLCG2,downstream_gene_variant,,ENST00000563375,;	uc002fgt.2	c.1698C>T	1912/4308	1	1			c.1698C>T						16	SNP	c.(1696-1698)AGC>AGT	6	6			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8	Broad	phospholipase C, gamma 2			81942161		0.592	ENSG00000197943	11839	g.chr16:81942161C>T	intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			1880			1880	9.422468	KEEP	3	3	-1	19	17	3	3	-1	14.353765	19	17	0.146341	1	0	0	0	0	0	0	1	0	--	--		0	T			PLCG2_uc010chg.1_Silent_p.S566S	245	GBM-32-4210-TP	p.S566S	C	TTCGGGAGAGCGAGACCTTCC	NM_002661	NP_002652	81942161	P16885	PLCG2_HUMAN	0			17	1850	+	T	T			Silent	566			SH2 1.			
PLCG2	0	broad.mit.edu	GRCh37	16	81891938	81891938	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359376.3:c.408G>A	p.Ala136=	p.A136=	ENST00000359376	NM_002661.3	136	gcG/gcA	0			1			A	A	uc002fgt.2	protein_coding	YES	CCDS42204.1			408/3798									large_intestine(4)|lung(2)|ovary(1)|skin(1)	8	c.(406-408)GCG>GCA			Gene3D:2.30.29.30,PIRSF_domain:PIRSF000952,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF25	phospholipase C, gamma 2				ENSP00000352336		Apr-33	8.27E-06			0.000116					rs747155855,COSM2157454,COSM2157453	Apr-33	.		ENST00000359376	Transcript	1		intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	ENSG00000197943	g.chr16:81891938G>A	9066			LOW								--	--	1																																		PLCG2_uc010chg.1_Silent_p.A136A	0,1,1	1			p.A136A	NM_002661	NP_002652			0,1,1	PLCG2_HUMAN	PLCG2	HGNC	P16885	PLCG2_HUMAN			H3BQV5_HUMAN		4	560	+			UPI00001411F7	136					SNV	PLCG2,synonymous_variant,p.=,ENST00000359376,NM_002661.3;PLCG2,synonymous_variant,p.=,ENST00000565054,;PLCG2,non_coding_transcript_exon_variant,,ENST00000565400,;PLCG2,non_coding_transcript_exon_variant,,ENST00000569523,;PLCG2,non_coding_transcript_exon_variant,,ENST00000567980,;PLCG2,non_coding_transcript_exon_variant,,ENST00000565020,;PLCG2,intron_variant,,ENST00000569929,;	uc002fgt.2	c.408G>A	622/4308	1	1			c.408G>A						16	SNP	c.(406-408)GCG>GCA	59	59			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8	Broad	phospholipase C, gamma 2			81891938		0.478	ENSG00000197943	11839	g.chr16:81891938G>A	intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			1880			1880	328.289377	KEEP	74	56	-1	81	95	74	56	-1	329.292487	81	95	0.43662	1	0	0	0	0	0	0	1	0	--	--		0	A			PLCG2_uc010chg.1_Silent_p.A136A	265	GBM-76-4925-TP	p.A136A	G	CGATGAATGCGTCCACGCCCA	NM_002661	NP_002652	81891938	P16885	PLCG2_HUMAN	0			4	560	+	A	A			Silent	136						
PLCG2	5336		GRCh37	16	81944227	81944227	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000359376.3:c.1836C>T	p.Ala612=	p.A612=	ENST00000359376	NM_002661.3	612	gcC/gcT	0																																																																																																																																																																																																																																												
PLCG2	5336		GRCh37	16	81942086	81942086	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000359376.3:c.1623G>A	p.Thr541=	p.T541=	ENST00000359376	NM_002661.3	541	acG/acA	0																																																																																																																																																																																																																																												
PLCH1	0	broad.mit.edu	GRCh37	3	155198910	155198910	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-19-1790-01	TCGA-19-1790-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340059.7:c.4929A>T	p.Lys1643Asn	p.K1643N	ENST00000340059	NM_001130960.1	1643	aaA/aaT	0			1			A	K/N	uc011bok.1	protein_coding	YES	CCDS46939.1			4929/5082									skin(3)|ovary(1)	4	c.(4927-4929)AAA>AAT				phospholipase C eta 1 isoform a				ENSP00000345988		23/23									COSM2156069,COSM2156068	23/23	.		ENST00000340059	Transcript			lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	ENSG00000114805	g.chr3:155198910T>A	29185			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=PLCH1_HUMAN&rb=1627&re=1693&var=K1643N	NA	getma.org/?cm=var&var=hg19,3,155198910,T,A&fts=all	K1643N	--	--	1																																		PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.K1605N	1,1	1		benign(0.005)	p.K1643N	NM_001130960	NP_001124432		tolerated_low_confidence(0.47)	1,1	PLCH1_HUMAN	PLCH1	HGNC	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)				23	5206	-			UPI00001D800E	1643					SNV	PLCH1,missense_variant,p.Lys1605Asn,ENST00000460012,;PLCH1,missense_variant,p.Lys1605Asn,ENST00000414191,;PLCH1,missense_variant,p.Lys1643Asn,ENST00000340059,NM_001130960.1;PLCH1,missense_variant,p.Lys1605Asn,ENST00000334686,NM_014996.2;PLCH1,3_prime_UTR_variant,,ENST00000447496,NM_001130961.1;PLCH1,intron_variant,,ENST00000494598,;PLCH1-AS2,upstream_gene_variant,,ENST00000472913,;	uc011bok.1	c.4929A>T	4929/6168	2	2			c.4929A>T						3	SNP	c.(4927-4929)AAA>AAT	34	34			skin(3)|ovary(1)	4	Broad	phospholipase C eta 1 isoform a			155198910		0.562	ENSG00000114805	11840	g.chr3:155198910T>A	lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity							47.587608	KEEP	8	11	-1	33	26	8	11	-1	51.054612	33	26	0.267606	1	0	0	0	0	1	0	0	0	--	--		0	A			PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.K1605N	160	GBM-19-1790-TP	p.K1643N	T	GGCCACCCCCTTTCGTGTTCT	NM_001130960	NP_001124432	155198910	Q4KWH8	PLCH1_HUMAN	0	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	5206	-	A	A			Missense_Mutation	1643						
PLCH2	9651	broad.mit.edu	GRCh37	1	2411404	2411404	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01	TCGA-06-2563-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449969.1:c.422G>A	p.Arg141His	p.R141H	ENST00000449969		141	cGc/cAc	0			1			A	R/H	uc001aji.1	protein_coding		CCDS59959.1			503/4251									central_nervous_system(3)|ovary(1)|skin(1)	5	c.(502-504)CGC>CAC			hmmpanther:PTHR10336:SF21,hmmpanther:PTHR10336,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	phospholipase C, eta 2				ENSP00000367747		22-Mar	8.31E-06			0.000122					rs760532972,COSM3400551,COSM3400550	22-Mar	.		ENST00000378486	Transcript			intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	ENSG00000149527	g.chr1:2411404G>A	29037			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=PLCH2_HUMAN&rb=167&re=235&var=R168H	getma.org/pdb.php?prot=PLCH2_HUMAN&from=167&to=235&var=R168H	getma.org/?cm=var&var=hg19,1,2411404,G,A&fts=all	R168H	--	--	1																																		PLCH2_uc010nyz.1_5'Flank|PLCH2_uc009vle.1_5'Flank|PLCH2_uc001ajj.1_5'Flank|PLCH2_uc001ajk.1_5'Flank	0,1,1			probably_damaging(0.995)	p.R168H	NM_014638	NP_055453		deleterious(0)	0,1,1	PLCH2_HUMAN	PLCH2	HGNC	O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)			3	777	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	UPI00005B72F8	168					SNV	PLCH2,missense_variant,p.Arg141His,ENST00000449969,;PLCH2,missense_variant,p.Arg168His,ENST00000419816,;PLCH2,missense_variant,p.Arg168His,ENST00000378486,NM_014638.2;PLCH2,missense_variant,p.Arg168His,ENST00000378488,;PLCH2,missense_variant,p.Arg27His,ENST00000278878,;PLCH2,intron_variant,,ENST00000288766,;PLCH2,downstream_gene_variant,,ENST00000609981,;PLCH2,non_coding_transcript_exon_variant,,ENST00000343889,;	uc001aji.1	c.503G>A	777/4837	2	2			c.503G>A						1	SNP	c.(502-504)CGC>CAC	43	43			central_nervous_system(3)|ovary(1)|skin(1)	5	Broad	phospholipase C, eta 2			2411404		0.687	ENSG00000149527	11841	g.chr1:2411404G>A	intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity							63.742661	KEEP	15	12	-1	12	16	15	12	-1	63.763089	12	16	0.52381	1	0	0	0	0	1	0	0	0	--	--		0	A			PLCH2_uc010nyz.1_5'Flank|PLCH2_uc009vle.1_5'Flank|PLCH2_uc001ajj.1_5'Flank|PLCH2_uc001ajk.1_5'Flank	86	GBM-06-2563-TP	p.R168H	G	CGCCGCCAGCGCACCAGGGAC	NM_014638	NP_055453	2411404	O75038	PLCH2_HUMAN	0		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	3	777	+	A	A	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	Missense_Mutation	168						
PLCH2	0	broad.mit.edu	GRCh37	1	2411398	2411398	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2514-01	TCGA-28-2514-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378486.3:c.497G>A	p.Arg166His	p.R166H	ENST00000378486	NM_014638.2	166	cGc/cAc	0			1			A	R/H	uc001aji.1	protein_coding		CCDS59959.1			497/4251									central_nervous_system(3)|ovary(1)|skin(1)	5	c.(496-498)CGC>CAC			hmmpanther:PTHR10336:SF21,hmmpanther:PTHR10336,Gene3D:1.10.238.10	phospholipase C, eta 2				ENSP00000367747		22-Mar									COSM3400549,COSM3400548	22-Mar	.		ENST00000378486	Transcript			intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	ENSG00000149527	g.chr1:2411398G>A	29037			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=PLCH2_HUMAN&rb=1&re=166&var=R166H	NA	getma.org/?cm=var&var=hg19,1,2411398,G,A&fts=all	R166H	--	--	1																																		PLCH2_uc010nyz.1_5'Flank|PLCH2_uc009vle.1_5'Flank|PLCH2_uc001ajj.1_5'Flank|PLCH2_uc001ajk.1_5'Flank	1,1			probably_damaging(0.961)	p.R166H	NM_014638	NP_055453		deleterious(0.03)	1,1	PLCH2_HUMAN	PLCH2	HGNC	O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)			3	771	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	UPI00005B72F8	166					SNV	PLCH2,missense_variant,p.Arg139His,ENST00000449969,;PLCH2,missense_variant,p.Arg166His,ENST00000378486,NM_014638.2;PLCH2,missense_variant,p.Arg166His,ENST00000419816,;PLCH2,missense_variant,p.Arg166His,ENST00000378488,;PLCH2,missense_variant,p.Arg25His,ENST00000278878,;PLCH2,intron_variant,,ENST00000288766,;PLCH2,downstream_gene_variant,,ENST00000609981,;PLCH2,non_coding_transcript_exon_variant,,ENST00000343889,;	uc001aji.1	c.497G>A	771/4837	2	2			c.497G>A						1	SNP	c.(496-498)CGC>CAC	20	20			central_nervous_system(3)|ovary(1)|skin(1)	5	Broad	phospholipase C, eta 2			2411398		0.687	ENSG00000149527	11841	g.chr1:2411398G>A	intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity							59.372081	KEEP	17	17	-1	22	34	17	17	-1	60.010102	22	34	0.389831	1	0	0	0	0	1	0	0	0	--	--		0	A			PLCH2_uc010nyz.1_5'Flank|PLCH2_uc009vle.1_5'Flank|PLCH2_uc001ajj.1_5'Flank|PLCH2_uc001ajk.1_5'Flank	214	GBM-28-2514-TP	p.R166H	G	CTGGCTCGCCGCCAGCGCACC	NM_014638	NP_055453	2411398	O75038	PLCH2_HUMAN	0		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	3	771	+	A	A	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	Missense_Mutation	166						
PLCL1	5334	broad.mit.edu	GRCh37	2	198950756	198950756	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01	TCGA-02-0003-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428675.1:c.2515G>A	p.Val839Ile	p.V839I	ENST00000428675	NM_006226.3	839	Gta/Ata	0			1			A	V/I	uc010fsp.2	protein_coding	YES	CCDS2326.2			2515/3288									ovary(1)|skin(1)	2	c.(2515-2517)GTA>ATA			hmmpanther:PTHR10336:SF76,hmmpanther:PTHR10336,Gene3D:2.60.40.150,Superfamily_domains:SSF49562	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)			ENSP00000402861		6-Feb	2.47E-05	0.000192						6.06E-05	rs750442833,COSM1014593,COSM1153687	6-Feb	.		ENST00000428675	Transcript			intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	ENSG00000115896	g.chr2:198950756G>A	9063			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=PLCL1_HUMAN&rb=814&re=1013&var=V839I	NA	getma.org/?cm=var&var=hg19,2,198950756,G,A&fts=all	V839I	--	--	1																																		PLCL1_uc002uuv.3_Missense_Mutation_p.V760I	0,1,1	1		benign(0.069)	p.V839I	NM_001114661	NP_001108133		deleterious(0.01)	0,1,1	PLCL1_HUMAN	PLCL1	HGNC	Q15111	PLCL1_HUMAN					2	2806	+			UPI000165BCF5	839					SNV	PLCL1,missense_variant,p.Val839Ile,ENST00000428675,NM_006226.3;PLCL1,missense_variant,p.Val741Ile,ENST00000437704,;PLCL1,missense_variant,p.Val765Ile,ENST00000487695,;PLCL1,3_prime_UTR_variant,,ENST00000435320,;	uc010fsp.2	c.2515G>A	2913/5125	1	1			c.2515G>A						2	SNP	c.(2515-2517)GTA>ATA	60	60			ovary(1)|skin(1)	2	Broad	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;		Quinacrine(DB01103)	198950756		0.453	ENSG00000115896	11842	g.chr2:198950756G>A	intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity							202.519711	KEEP	38	37	-1	46	27	38	37	-1	202.521283	46	27	0.503546	1	0	0	0	0	1	0	0	0	--	--		0	A			PLCL1_uc002uuv.3_Missense_Mutation_p.V760I	1	GBM-02-0003-TP	p.V839I	G	CATGGAGCACGTAACCCTTTT	NM_001114661	NP_001108133	198950756	Q15111	PLCL1_HUMAN	0			2	2806	+	A	A			Missense_Mutation	839						
PLCL1	5334	broad.mit.edu	GRCh37	2	198966043	198966043	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01	TCGA-06-2564-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428675.1:c.2954C>T	p.Ala985Val	p.A985V	ENST00000428675	NM_006226.3	985	gCg/gTg	0		T:0	1	T:0		T	A/V	uc010fsp.2	protein_coding	YES	CCDS2326.2			2954/3288									ovary(1)|skin(1)	2	c.(2953-2955)GCG>GTG			hmmpanther:PTHR10336:SF76,hmmpanther:PTHR10336	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)	T:0		ENSP00000402861	T:0	6-Apr	0.000124	9.64E-05			0.000454	0.00012	0.0011	0.000121	rs541983270,COSM396526,COSM2152924	6-Apr	common_variant		ENST00000428675	Transcript		T:0.0002	intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	ENSG00000115896	g.chr2:198966043C>T	9063			MODERATE		2.43	medium	getma.org/?cm=msa&ty=f&p=PLCL1_HUMAN&rb=814&re=1013&var=A985V	NA	getma.org/?cm=var&var=hg19,2,198966043,C,T&fts=all	A985V	--	--	1																																		PLCL1_uc002uuv.3_Missense_Mutation_p.A906V	0,1,1	1		possibly_damaging(0.877)	p.A985V	NM_001114661	NP_001108133	T:0.001	deleterious(0)	0,1,1	PLCL1_HUMAN	PLCL1	HGNC	Q15111	PLCL1_HUMAN					4	3245	+			UPI000165BCF5	985					SNV	PLCL1,missense_variant,p.Ala985Val,ENST00000428675,NM_006226.3;PLCL1,missense_variant,p.Ala887Val,ENST00000437704,;PLCL1,missense_variant,p.Ala911Val,ENST00000487695,;PLCL1,3_prime_UTR_variant,,ENST00000435320,;	uc010fsp.2	c.2954C>T	3352/5125	2	2			c.2954C>T						2	SNP	c.(2953-2955)GCG>GTG	21	21			ovary(1)|skin(1)	2	Broad	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;		Quinacrine(DB01103)	198966043		0.318	ENSG00000115896	11842	g.chr2:198966043C>T	intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity							185.182628	KEEP	36	33	-1	56	62	36	33	-1	188.307182	56	62	0.357955	1	0	0	0	0	1	0	0	0	--	--		0	T			PLCL1_uc002uuv.3_Missense_Mutation_p.A906V	87	GBM-06-2564-TP	p.A985V	C	ATAGAAATGGCGGACACAGTC	NM_001114661	NP_001108133	198966043	Q15111	PLCL1_HUMAN	0			4	3245	+	T	T			Missense_Mutation	985						
PLCL1	0	broad.mit.edu	GRCh37	2	198968641	198968641	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428675.1:c.3086G>A	p.Trp1029Ter	p.W1029*	ENST00000428675	NM_006226.3	1029	tGg/tAg	0			1			A	W/*	uc010fsp.2	protein_coding	YES	CCDS2326.2			3086/3288									ovary(1)|skin(1)	2	c.(3085-3087)TGG>TAG			hmmpanther:PTHR10336:SF76,hmmpanther:PTHR10336	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)			ENSP00000402861		6-May									COSM2154839,COSM2154838	6-May	.		ENST00000428675	Transcript			intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	ENSG00000115896	g.chr2:198968641G>A	9063			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,198968641,G,A&fts=all	W1029*	--	--	1																																		PLCL1_uc002uuv.3_Nonsense_Mutation_p.W950*	1,1	1			p.W1029*	NM_001114661	NP_001108133			1,1	PLCL1_HUMAN	PLCL1	HGNC	Q15111	PLCL1_HUMAN					5	3377	+			UPI000165BCF5	1029					SNV	PLCL1,stop_gained,p.Trp1029Ter,ENST00000428675,NM_006226.3;PLCL1,stop_gained,p.Trp931Ter,ENST00000437704,;PLCL1,stop_gained,p.Trp955Ter,ENST00000487695,;PLCL1,3_prime_UTR_variant,,ENST00000435320,;	uc010fsp.2	c.3086G>A	3484/5125	5	1			c.3086G>A						2	SNP	c.(3085-3087)TGG>TAG	57	57			ovary(1)|skin(1)	2	Broad	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;		Quinacrine(DB01103)	198968641		0.403	ENSG00000115896	11842	g.chr2:198968641G>A	intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity							43.701072	KEEP	13	5	-1	21	21	13	5	-1	46.261268	21	21	0.272727	1	0	0	0	0	0	1	0	0	--	--		0	A			PLCL1_uc002uuv.3_Nonsense_Mutation_p.W950*	139	GBM-14-0817-TP	p.W1029*	G	AGCTTTGCTTGGAACATTACA	NM_001114661	NP_001108133	198968641	Q15111	PLCL1_HUMAN	0			5	3377	+	A	A			Nonsense_Mutation	1029						
PLCL1	5334		GRCh37	2	198950624	198950624	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000428675.1:c.2383C>T	p.Arg795Cys	p.R795C	ENST00000428675	NM_006226.3	795	Cgt/Tgt	0																																																																																																																																																																																																																																												
PLCL2	0	broad.mit.edu	GRCh37	3	17052411	17052411	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-41-3392-01	TCGA-41-3392-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000418129.2:c.1195A>T	p.Ile399Phe	p.I399F	ENST00000418129	NM_001144382.1	399	Att/Ttt	0			1			T	I/F	uc011awc.1	protein_coding	YES	CCDS33713.1			1195/3006									skin(2)|ovary(1)|lung(1)	4	c.(1549-1551)ATT>TTT			Gene3D:3.20.20.190,Pfam_domain:PF00388,PROSITE_profiles:PS50007,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF84,SMART_domains:SM00148,Superfamily_domains:SSF51695	phospholipase C-like 2 isoform 1				ENSP00000409637		6-Feb									COSM3408423,COSM3408424	6-Feb	.		ENST00000418129	Transcript			intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	ENSG00000154822	g.chr3:17052411A>T	9064			MODERATE								--	--	1																																		PLCL2_uc010het.1_Missense_Mutation_p.H126L|PLCL2_uc011awd.1_Missense_Mutation_p.I399F	1,1	1		benign(0.285)	p.I517F	NM_001144382	NP_001137854		tolerated(0.43)	1,1	PLCL2_HUMAN	PLCL2	HGNC	Q9UPR0	PLCL2_HUMAN					5	1654	+			UPI0000141145	525			PI-PLC X-box.		SNV	PLCL2,missense_variant,p.Ile399Phe,ENST00000418129,NM_001144382.1;PLCL2,missense_variant,p.Ile399Phe,ENST00000432376,NM_015184.5;PLCL2,missense_variant,p.Ile399Phe,ENST00000396755,;PLCL2,missense_variant,p.Ile143Phe,ENST00000419842,;PLCL2,non_coding_transcript_exon_variant,,ENST00000460467,;	uc011awc.1	c.1549A>T	1660/4153	2	2			c.1549A>T						3	SNP	c.(1549-1551)ATT>TTT	46	46			skin(2)|ovary(1)|lung(1)	4	Broad	phospholipase C-like 2 isoform 1			17052411		0.373	ENSG00000154822	11843	g.chr3:17052411A>T	intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity							141.97591	KEEP	26	21	-1	38	35	26	21	-1	143.101456	38	35	0.392857	1	0	0	0	0	1	0	0	0	--	--		0	T			PLCL2_uc010het.1_Missense_Mutation_p.H126L|PLCL2_uc011awd.1_Missense_Mutation_p.I399F	254	GBM-41-3392-TP	p.I517F	A	CCACTGTTCCATTAAACAACA	NM_001144382	NP_001137854	17052411	Q9UPR0	PLCL2_HUMAN	0			5	1654	+	T	T			Missense_Mutation	525			PI-PLC X-box.			
PLCXD3	345557	broad.mit.edu	GRCh37	5	41382006	41382006	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-6389-01	TCGA-06-6389-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377801.3:c.734C>A	p.Ser245Tyr	p.S245Y	ENST00000377801		245	tCt/tAt	0			1			T	S/Y	uc003jmm.1	protein_coding		CCDS34150.1			734/966									skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6	c.(733-735)TCT>TAT			Superfamily_domains:SSF51695,Gene3D:3.20.20.190,hmmpanther:PTHR13593,hmmpanther:PTHR13593:SF33	phosphatidylinositol-specific phospholipase C, X				ENSP00000333751		4-Feb									COSM1068318	4-Feb	.		ENST00000328457	Transcript			intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	ENSG00000182836	g.chr5:41382006G>T	31822			MODERATE		2.38	medium	getma.org/?cm=msa&ty=f&p=PLCX3_HUMAN&rb=196&re=321&var=S245Y	NA	getma.org/?cm=var&var=hg19,5,41382006,G,T&fts=all	S245Y	--	--	1																																			1			probably_damaging(0.977)	p.S245Y	NM_001005473	NP_001005473		tolerated(0.07)	1	PLCX3_HUMAN	PLCXD3	HGNC	Q63HM9	PLCX3_HUMAN			B3KXD1_HUMAN		2	836	-			UPI0000049DBB	245					SNV	PLCXD3,missense_variant,p.Ser245Tyr,ENST00000377801,;PLCXD3,missense_variant,p.Ser245Tyr,ENST00000328457,NM_001005473.2;	uc003jmm.1	c.734C>A	836/7538	2	2			c.734C>A						5	SNP	c.(733-735)TCT>TAT	28	28			skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6	Broad	phosphatidylinositol-specific phospholipase C, X			41382006		0.483	ENSG00000182836	11845	g.chr5:41382006G>T	intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity							61.788718	KEEP	9	19	0.321428571	42	54	9	19	0.321428571	68.782119	42	54	0.236364	1	0	0	0	0	1	0	0	0	--	--		0	T				105	GBM-06-6389-TP	p.S245Y	G	CACCACCTGAGATATAAAAAA	NM_001005473	NP_001005473	41382006	Q63HM9	PLCX3_HUMAN	0			2	836	-	T	T			Missense_Mutation	245						
PLCXD3	0	broad.mit.edu	GRCh37	5	41313846	41313846	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-19-2624-01	TCGA-19-2624-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328457.3:c.839T>A	p.Val280Asp	p.V280D	ENST00000328457	NM_001005473.2	280	gTc/gAc	0			1			T	V/D	uc003jmm.1	protein_coding		CCDS34150.1			839/966									skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6	c.(838-840)GTC>GAC			Superfamily_domains:SSF51695,Gene3D:3.20.20.190,hmmpanther:PTHR13593,hmmpanther:PTHR13593:SF33	phosphatidylinositol-specific phospholipase C, X				ENSP00000333751		4-Mar									COSM2156266	4-Mar	.		ENST00000328457	Transcript			intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	ENSG00000182836	g.chr5:41313846A>T	31822			MODERATE		1.47	low	getma.org/?cm=msa&ty=f&p=PLCX3_HUMAN&rb=196&re=321&var=V280D	NA	getma.org/?cm=var&var=hg19,5,41313846,A,T&fts=all	V280D	--	--	1																																			1			possibly_damaging(0.62)	p.V280D	NM_001005473	NP_001005473		deleterious(0)	1	PLCX3_HUMAN	PLCXD3	HGNC	Q63HM9	PLCX3_HUMAN			B3KXD1_HUMAN		3	941	-			UPI0000049DBB	280					SNV	PLCXD3,missense_variant,p.Val280Asp,ENST00000377801,;PLCXD3,missense_variant,p.Val280Asp,ENST00000328457,NM_001005473.2;	uc003jmm.1	c.839T>A	941/7538	2	2			c.839T>A						5	SNP	c.(838-840)GTC>GAC	22	22			skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6	Broad	phosphatidylinositol-specific phospholipase C, X			41313846		0.433	ENSG00000182836	11845	g.chr5:41313846A>T	intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity							99.22675	KEEP	20	16	-1	19	18	20	16	-1	99.240083	19	18	0.484375	1	0	0	0	0	1	0	0	0	--	--		0	T				164	GBM-19-2624-TP	p.V280D	A	CTGCGTGCGGACCCACTGCAT	NM_001005473	NP_001005473	41313846	Q63HM9	PLCX3_HUMAN	0			3	941	-	T	T			Missense_Mutation	280						
PLCXD3	0	broad.mit.edu	GRCh37	5	41382448	41382448	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5204-01	TCGA-28-5204-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328457.3:c.292C>T	p.Arg98Ter	p.R98*	ENST00000328457	NM_001005473.2	98	Cga/Tga	0			1			A	R/*	uc003jmm.1	protein_coding		CCDS34150.1			292/966									skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6	c.(292-294)CGA>TGA			Superfamily_domains:SSF51695,SMART_domains:SM00148,Gene3D:3.20.20.190,Pfam_domain:PF00388,hmmpanther:PTHR13593,hmmpanther:PTHR13593:SF33,PROSITE_profiles:PS50007	phosphatidylinositol-specific phospholipase C, X				ENSP00000333751		4-Feb									COSM449682	4-Feb	.		ENST00000328457	Transcript			intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	ENSG00000182836	g.chr5:41382448G>A	31822			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,5,41382448,G,A&fts=all	R98*	--	--	1																																			1				p.R98*	NM_001005473	NP_001005473			1	PLCX3_HUMAN	PLCXD3	HGNC	Q63HM9	PLCX3_HUMAN			B3KXD1_HUMAN		2	394	-			UPI0000049DBB	98			PI-PLC X-box.		SNV	PLCXD3,stop_gained,p.Arg98Ter,ENST00000377801,;PLCXD3,stop_gained,p.Arg98Ter,ENST00000328457,NM_001005473.2;	uc003jmm.1	c.292C>T	394/7538	5	1			c.292C>T						5	SNP	c.(292-294)CGA>TGA	61	61			skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6	Broad	phosphatidylinositol-specific phospholipase C, X			41382448		0.443	ENSG00000182836	11845	g.chr5:41382448G>A	intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity							218.9976	KEEP	40	43	-1	42	55	40	43	-1	219.154259	42	55	0.467456	1	0	0	0	0	0	1	0	0	--	--		0	A				215	GBM-28-5204-TP	p.R98*	G	GTGGAAATTCGAAGATCAAAA	NM_001005473	NP_001005473	41382448	Q63HM9	PLCX3_HUMAN	0			2	394	-	A	A			Nonsense_Mutation	98			PI-PLC X-box.			
PLCXD3	345557		GRCh37	5	41382349	41382349	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000377801.3:c.391T>C	p.Phe131Leu	p.F131L	ENST00000377801		131	Ttc/Ctc	0																																																																																																																																																																																																																																												
PLCZ1	0	broad.mit.edu	GRCh37	12	18836249	18836249	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6191-01	TCGA-76-6191-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266505.7:c.1751G>A	p.Arg584His	p.R584H	ENST00000266505		584	cGt/cAt	0			1			T	R/H	uc010sid.1	protein_coding	YES	CCDS8680.1			1751/1827								p.R584C(1)	ovary(1)|lung(1)|skin(1)	3	c.(1750-1752)CGT>CAT			hmmpanther:PTHR10336:SF29,hmmpanther:PTHR10336,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	phospholipase C, zeta 1				ENSP00000266505		15/15	8.24E-06		8.83E-05						rs770563339,COSM1360537	15/15	.		ENST00000266505	Transcript			intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	ENSG00000139151	g.chr12:18836249C>T	19218			MODERATE		-1.325	neutral	getma.org/?cm=msa&ty=f&p=PLCZ1_HUMAN&rb=573&re=608&var=R584H	NA	getma.org/?cm=var&var=hg19,12,18836249,C,T&fts=all	R584H	--	--	1																																		PLCZ1_uc001rdv.3_Missense_Mutation_p.R480H|PLCZ1_uc001rdw.3_Missense_Mutation_p.R325H|PLCZ1_uc001rdu.1_Missense_Mutation_p.R366H|PLCZ1_uc009zil.1_RNA	0,1	1		benign(0.004)	p.R584H	NM_033123	NP_149114		tolerated(1)	0,1	PLCZ1_HUMAN	PLCZ1	HGNC	Q86YW0	PLCZ1_HUMAN			F5H828_HUMAN,F5H474_HUMAN,F5H3L4_HUMAN,F5H2Y6_HUMAN,F5GZK3_HUMAN		15	1942	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		UPI000000D7E3	584					SNV	PLCZ1,missense_variant,p.Arg584His,ENST00000266505,;PLCZ1,missense_variant,p.Arg582His,ENST00000447925,NM_033123.3;PLCZ1,missense_variant,p.Arg366His,ENST00000538330,;PLCZ1,missense_variant,p.Arg389His,ENST00000435379,;PLCZ1,missense_variant,p.Arg391His,ENST00000539875,;PLCZ1,missense_variant,p.Arg65His,ENST00000534932,;PLCZ1,missense_variant,p.Arg77His,ENST00000536023,;PLCZ1,3_prime_UTR_variant,,ENST00000541695,;PLCZ1,downstream_gene_variant,,ENST00000540421,;PLCZ1,3_prime_UTR_variant,,ENST00000318197,;PLCZ1,3_prime_UTR_variant,,ENST00000540270,;PLCZ1,3_prime_UTR_variant,,ENST00000543219,;	uc010sid.1	c.1751G>A	2015/2148	2	2			c.1751G>A						12	SNP	c.(1750-1752)CGT>CAT	21	21		p.R584C(1)	ovary(1)|lung(1)|skin(1)	3	Broad	phospholipase C, zeta 1			18836249		0.378	ENSG00000139151	11846	g.chr12:18836249C>T	intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity							52.671204	KEEP	11	7	-1	6	15	11	7	-1	52.762468	6	15	0.447368	1	0	0	0	0	1	0	0	0	--	--		0	T			PLCZ1_uc001rdv.3_Missense_Mutation_p.R480H|PLCZ1_uc001rdw.3_Missense_Mutation_p.R325H|PLCZ1_uc001rdu.1_Missense_Mutation_p.R366H|PLCZ1_uc009zil.1_RNA	274	GBM-76-6191-TP	p.R584H	C	CAGAGGAATACGACGATAACC	NM_033123	NP_149114	18836249	Q86YW0	PLCZ1_HUMAN	0			15	1942	-	T	T	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		Missense_Mutation	584						
PLD1	5337	broad.mit.edu	GRCh37	3	171330189	171330189	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-6388-01	TCGA-06-6388-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000351298.4:c.2762G>C	p.Gly921Ala	p.G921A	ENST00000351298	NM_002662.4	921	gGa/gCa	0			1			G	G/A	uc003fhs.2	protein_coding	YES	CCDS3216.1			2762/3225									ovary(2)|lung(1)	3	c.(2761-2763)GGA>GCA			hmmpanther:PTHR18896:SF57,hmmpanther:PTHR18896,Gene3D:3.30.870.10,Pfam_domain:PF13091,PIRSF_domain:PIRSF009376,Superfamily_domains:SSF56024	phospholipase D1 isoform a	Choline(DB00122)			ENSP00000342793		25/27									COSM3408430	25/27	.		ENST00000351298	Transcript			cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	ENSG00000075651	g.chr3:171330189C>G	9067			MODERATE		3.775	high	getma.org/?cm=msa&ty=f&p=PLD1_HUMAN&rb=766&re=945&var=G921A	NA	getma.org/?cm=var&var=hg19,3,171330189,C,G&fts=all	G921A	--	--	1																																		PLD1_uc003fht.2_Missense_Mutation_p.G883A|PLD1_uc003fhu.3_Missense_Mutation_p.G215A	1	1		probably_damaging(0.993)	p.G921A	NM_002662	NP_002653		tolerated(0.16)	1	PLD1_HUMAN	PLD1	HGNC	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		C9IY79_HUMAN		25	2878	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		UPI0000131BDC	921			Catalytic.		SNV	PLD1,missense_variant,p.Gly883Ala,ENST00000356327,NM_001130081.2;PLD1,missense_variant,p.Gly921Ala,ENST00000351298,NM_002662.4;PLD1,missense_variant,p.Gly921Ala,ENST00000340989,;PLD1,missense_variant,p.Gly184Ala,ENST00000446289,;PLD1,3_prime_UTR_variant,,ENST00000342215,;PLD1,non_coding_transcript_exon_variant,,ENST00000465816,;PLD1,non_coding_transcript_exon_variant,,ENST00000467432,;	uc003fhs.2	c.2762G>C	2889/5604	3	3			c.2762G>C						3	SNP	c.(2761-2763)GGA>GCA	64	64			ovary(2)|lung(1)	3	Broad	phospholipase D1 isoform a		Choline(DB00122)	171330189		0.423	ENSG00000075651	11847	g.chr3:171330189C>G	cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	NSCLC(149;2174 3517 34058)		595	NSCLC(149;2174 3517 34058)		595	107.783406	KEEP	16	23	-1	16	37	16	23	-1	108.399319	16	37	0.402597	1	0	0	0	0	1	0	0	0	--	--		0	G			PLD1_uc003fht.2_Missense_Mutation_p.G883A|PLD1_uc003fhu.3_Missense_Mutation_p.G215A	104	GBM-06-6388-TP	p.G921A	C	GTCACGCTTTCCCAGCATGCT	NM_002662	NP_002653	171330189	Q13393	PLD1_HUMAN	0	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		25	2878	-	G	G	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		Missense_Mutation	921			Catalytic.			
PLD2	5338	broad.mit.edu	GRCh37	17	4714202	4714202	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5413-01	TCGA-06-5413-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263088.6:c.966G>A	p.Arg322=	p.R322=	ENST00000263088	NM_001243108.1	322	cgG/cgA	0			1			A	R	uc002fzc.2	protein_coding	YES	CCDS11057.1			966/2802									breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5	c.(964-966)CGG>CGA			hmmpanther:PTHR18896,hmmpanther:PTHR18896:SF7,PIRSF_domain:PIRSF009376,Superfamily_domains:SSF56024	phospholipase D2	Choline(DB00122)			ENSP00000263088		25-Oct									COSM3402981,COSM3402980	25-Oct	.		ENST00000263088	Transcript			cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	ENSG00000129219	g.chr17:4714202G>A	9068			LOW								--	--	1																																		PLD2_uc010vsj.1_Silent_p.R179R|PLD2_uc002fzd.2_Silent_p.R322R	1,1	1			p.R322R	NM_002663	NP_002654			1,1	PLD2_HUMAN	PLD2	HGNC	O14939	PLD2_HUMAN			I3L222_HUMAN,I3L1F3_HUMAN		10	1067	+			UPI0000131BDE	322					SNV	PLD2,synonymous_variant,p.=,ENST00000263088,NM_001243108.1,NM_002663.4;PLD2,synonymous_variant,p.=,ENST00000572940,;PLD2,downstream_gene_variant,,ENST00000575316,;RP11-81A22.5,upstream_gene_variant,,ENST00000571067,;PLD2,synonymous_variant,p.=,ENST00000575813,;PLD2,3_prime_UTR_variant,,ENST00000575246,;PLD2,upstream_gene_variant,,ENST00000574796,;PLD2,downstream_gene_variant,,ENST00000574268,;PLD2,upstream_gene_variant,,ENST00000576329,;PLD2,upstream_gene_variant,,ENST00000573258,;	uc002fzc.2	c.966G>A	1097/3503	2	2			c.966G>A						17	SNP	c.(964-966)CGG>CGA	20	20			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5	Broad	phospholipase D2		Choline(DB00122)	4714202		0.617	ENSG00000129219	11848	g.chr17:4714202G>A	cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity							-21.194756	KEEP	5	0	-1	60	63	5	0	-1	7.301563	60	63	0.033333	1	0	0	0	0	0	0	1	0	--	--		0	A			PLD2_uc010vsj.1_Silent_p.R179R|PLD2_uc002fzd.2_Silent_p.R322R	96	GBM-06-5413-TP	p.R322R	G	AGCTGCACCGGCATGACAGCT	NM_002663	NP_002654	4714202	O14939	PLD2_HUMAN	0			10	1067	+	A	A			Silent	322						
PLD3	0	broad.mit.edu	GRCh37	19	40872766	40872766	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4927-01	TCGA-76-4927-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356508.5:c.189C>T	p.Gly63=	p.G63=	ENST00000356508	NM_001031696.2	63	ggC/ggT	0	T:0.0002		1			T	G	uc002onm.3	protein_coding		CCDS33027.1			189/1473									skin(2)|ovary(1)	3	c.(187-189)GGC>GGT			hmmpanther:PTHR10185,hmmpanther:PTHR10185:SF16,Superfamily_domains:SSF56024	phospholipase D3			T:0	ENSP00000348901		13-May									rs375652785,COSM3404236	13-May	.		ENST00000356508	Transcript			lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding	ENSG00000105223	g.chr19:40872766C>T	17158			LOW								--	--	1																																		PLD3_uc002onj.3_Silent_p.G63G|PLD3_uc002onk.3_Silent_p.G63G|PLD3_uc002onl.3_Silent_p.G63G|PLD3_uc002onn.2_Silent_p.G63G|PLD3_uc002ono.2_Nonsense_Mutation_p.R93*	0,1				p.G63G	NM_001031696	NP_001026866			0,1	PLD3_HUMAN	PLD3	HGNC	Q8IV08	PLD3_HUMAN	Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)		M0R2E7_HUMAN,M0R1F7_HUMAN,M0QZK2_HUMAN,M0QY94_HUMAN,M0QX99_HUMAN,M0QX50_HUMAN,E2QRG1_HUMAN,E2QRD3_HUMAN		5	587	+			UPI000004FA75	63			Lumenal (Potential).		SNV	PLD3,synonymous_variant,p.=,ENST00000409587,;PLD3,synonymous_variant,p.=,ENST00000409735,NM_012268.2;PLD3,synonymous_variant,p.=,ENST00000409281,;PLD3,synonymous_variant,p.=,ENST00000409419,;PLD3,synonymous_variant,p.=,ENST00000356508,NM_001031696.2;PLD3,synonymous_variant,p.=,ENST00000392032,;PLD3,synonymous_variant,p.=,ENST00000594908,;PLD3,synonymous_variant,p.=,ENST00000359274,;PLD3,synonymous_variant,p.=,ENST00000599685,;PLD3,synonymous_variant,p.=,ENST00000602131,;PLD3,synonymous_variant,p.=,ENST00000596682,;PLD3,upstream_gene_variant,,ENST00000596470,;PLD3,downstream_gene_variant,,ENST00000598962,;PLD3,downstream_gene_variant,,ENST00000600948,;PLD3,upstream_gene_variant,,ENST00000599353,;PLD3,downstream_gene_variant,,ENST00000594085,;PLD3,downstream_gene_variant,,ENST00000600479,;PLD3,non_coding_transcript_exon_variant,,ENST00000485448,;PLD3,non_coding_transcript_exon_variant,,ENST00000493006,;PLD3,upstream_gene_variant,,ENST00000480030,;PLD3,upstream_gene_variant,,ENST00000475983,;PLD3,upstream_gene_variant,,ENST00000492243,;PLD3,downstream_gene_variant,,ENST00000464586,;	uc002onm.3	c.189C>T	312/1906	2	2			c.189C>T						19	SNP	c.(187-189)GGC>GGT	25	25			skin(2)|ovary(1)	3	Broad	phospholipase D3			40872766		0.627	ENSG00000105223	11849	g.chr19:40872766C>T	lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding							-79.302009	KEEP	0	10	-1	233	190	0	10	-1	11.536038	233	190	0.022409	1	0	0	0	0	0	0	1	0	--	--		0	T			PLD3_uc002onj.3_Silent_p.G63G|PLD3_uc002onk.3_Silent_p.G63G|PLD3_uc002onl.3_Silent_p.G63G|PLD3_uc002onn.2_Silent_p.G63G|PLD3_uc002ono.2_Nonsense_Mutation_p.R93*	267	GBM-76-4927-TP	p.G63G	C	GGGAATACGGCGACTTGCATC	NM_001031696	NP_001026866	40872766	Q8IV08	PLD3_HUMAN	0	Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)		5	587	+	T	T			Silent	63			Lumenal (Potential).			
PLD4	0	broad.mit.edu	GRCh37	14	105397140	105397140	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392593.4:c.779C>T	p.Thr260Ile	p.T260I	ENST00000392593	NM_138790.2	260	aCc/aTc	0			1			T	T/I	uc001ypu.1	protein_coding	YES	CCDS9995.2			779/1521									central_nervous_system(1)|skin(1)	2	c.(778-780)ACC>ATC			hmmpanther:PTHR10185:SF8,hmmpanther:PTHR10185,Pfam_domain:PF13918,Gene3D:3.30.870.10,Superfamily_domains:SSF56024	phospholipase D4	Choline(DB00122)			ENSP00000376372		11-Jul									COSM3401145,COSM3401144	11-Jul	.		ENST00000392593	Transcript			lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity	ENSG00000166428	g.chr14:105397140C>T	23792			MODERATE		-0.425	neutral	getma.org/?cm=msa&ty=f&p=PLD4_HUMAN&rb=236&re=416&var=T260I	NA	getma.org/?cm=var&var=hg19,14,105397140,C,T&fts=all	T260I	--	--	1																																		PLD4_uc010tyl.1_Missense_Mutation_p.T267I	1,1	1		benign(0.075)	p.T260I	NM_138790	NP_620145		tolerated(0.93)	1,1	PLD4_HUMAN	PLD4	HGNC	Q96BZ4	PLD4_HUMAN	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		G3V472_HUMAN		7	920	+		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	UPI0000374BC9	260					SNV	PLD4,missense_variant,p.Thr267Ile,ENST00000540372,;PLD4,missense_variant,p.Thr260Ile,ENST00000392593,NM_138790.2;PLD4,downstream_gene_variant,,ENST00000557573,;PLD4,upstream_gene_variant,,ENST00000553861,;PLD4,non_coding_transcript_exon_variant,,ENST00000472702,;PLD4,downstream_gene_variant,,ENST00000472901,;	uc001ypu.1	c.779C>T	947/1961	2	2			c.779C>T						14	SNP	c.(778-780)ACC>ATC	26	26			central_nervous_system(1)|skin(1)	2	Broad	phospholipase D4		Choline(DB00122)	105397140		0.572	ENSG00000166428	11850	g.chr14:105397140C>T	lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity							112.156312	KEEP	27	25	-1	93	94	27	25	-1	126.605703	93	94	0.230415	1	0	0	0	0	1	0	0	0	--	--		0	T			PLD4_uc010tyl.1_Missense_Mutation_p.T267I	229	GBM-32-1977-TP	p.T260I	C	CTGGAGAAGACCTTCCAGACC	NM_138790	NP_620145	105397140	Q96BZ4	PLD4_HUMAN	0	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		7	920	+	T	T		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	Missense_Mutation	260						
PLD5	200150	broad.mit.edu	GRCh37	1	242383388	242383388	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140243407	byFrequency	TCGA-06-0877-01	TCGA-06-0877-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000536534.2:c.637G>A	p.Ala213Thr	p.A213T	ENST00000536534		213	Gct/Act	0	T:0		1			T	A/T	uc001hzn.1	protein_coding					361/1335									ovary(6)	6	c.(637-639)GCT>ACT			Gene3D:3.30.870.10,hmmpanther:PTHR10185,hmmpanther:PTHR10185:SF9,Superfamily_domains:SSF56024	RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;			T:0.0005	ENSP00000414188		11-Jun	0.000321	0.000192	8.64E-05		0.000151	0.00051		6.06E-05	rs140243407,COSM1340715,COSM1340714	11-Jun	common_variant		ENST00000442594	Transcript				integral to membrane	catalytic activity	ENSG00000180287	g.chr1:242383388C>T	26879			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=PLD5_HUMAN&rb=40&re=239&var=A213T	NA	getma.org/?cm=var&var=hg19,1,242383388,C,T&fts=all	A213T	--	--	1																																		PLD5_uc001hzl.3_Missense_Mutation_p.A151T|PLD5_uc001hzm.3_Missense_Mutation_p.A3T|PLD5_uc001hzo.1_Missense_Mutation_p.A121T	0,1,1			probably_damaging(0.937)	p.A213T				tolerated(0.07)	0,1,1	PLD5_HUMAN	PLD5	HGNC	Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)				5	764	-	Melanoma(84;0.242)		UPI00000700BA	213					SNV	PLD5,missense_variant,p.Ala213Thr,ENST00000536534,;PLD5,missense_variant,p.Ala121Thr,ENST00000442594,NM_152666.2;PLD5,missense_variant,p.Ala151Thr,ENST00000427495,NM_001195811.1,NM_001195812.1;PLD5,3_prime_UTR_variant,,ENST00000314833,;PLD5,3_prime_UTR_variant,,ENST00000366545,;PLD5,3_prime_UTR_variant,,ENST00000467561,;	uc001hzn.1	c.637G>A	871/2729	1	1			c.637G>A						1	SNP	c.(637-639)GCT>ACT	1	1			ovary(6)	6	Broad	RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;			242383388		0.577	ENSG00000180287	11851	g.chr1:242383388C>T		integral to membrane	catalytic activity							80.842492	KEEP	16	19	-1	36	62	16	19	-1	86.913103	36	62	0.264463	1	0	0	0	0	1	0	0	0	--	--		0	T			PLD5_uc001hzl.3_Missense_Mutation_p.A151T|PLD5_uc001hzm.3_Missense_Mutation_p.A3T|PLD5_uc001hzo.1_Missense_Mutation_p.A121T	73	GBM-06-0877-TP	p.A213T	C	TTGTTGTAAGCGGTCATGTTC			242383388	Q8N7P1	PLD5_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		5	764	-	T	T	Melanoma(84;0.242)		Missense_Mutation	213						
PLEC	5339	broad.mit.edu	GRCh37	8	144993481	144993481	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01	TCGA-06-2557-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322810.4:c.10919C>T	p.Ala3640Val	p.A3640V	ENST00000322810	NM_201380.2	3640	gCg/gTg	0	A:0.0002		1			A	A/V	uc003zaf.1	protein_coding	YES	CCDS43772.1			10919/14055									large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9	c.(10918-10920)GCG>GTG			Gene3D:3.90.1290.10,Pfam_domain:PF00681,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF247,SMART_domains:SM00250,Superfamily_domains:SSF75399	plectin isoform 1			A:0	ENSP00000323856		32/32	3.31E-05	0.000102				4.51E-05			rs371006283,COSM2869491,COSM2869493,COSM3412837,COSM2869494,COSM2869492	32/32	.		ENST00000322810	Transcript	1		cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	ENSG00000178209	g.chr8:144993481G>A	9069			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=PLEC_HUMAN&rb=3599&re=3643&var=A3640V	getma.org/pdb.php?prot=PLEC_HUMAN&from=3599&to=3643&var=A3640V	getma.org/?cm=var&var=hg19,8,144993481,G,A&fts=all	A3640V	--	--	1																																		PLEC_uc003zab.1_Missense_Mutation_p.A3503V|PLEC_uc003zac.1_Missense_Mutation_p.A3507V|PLEC_uc003zad.2_Missense_Mutation_p.A3503V|PLEC_uc003zae.1_Missense_Mutation_p.A3471V|PLEC_uc003zag.1_Missense_Mutation_p.A3481V|PLEC_uc003zah.2_Missense_Mutation_p.A3489V|PLEC_uc003zaj.2_Missense_Mutation_p.A3530V	0,1,1,1,1,1	1		possibly_damaging(0.608)	p.A3640V	NM_201380	NP_958782			0,1,1,1,1,1	PLEC_HUMAN	PLEC	HGNC	Q15149	PLEC_HUMAN			Q96IE3_HUMAN,E9PQ28_HUMAN		32	11089	-			UPI0000233FCD	3640			Globular 2.|Plectin 16.		SNV	PLEC,missense_variant,p.Ala3640Val,ENST00000322810,NM_201380.2;PLEC,missense_variant,p.Ala3503Val,ENST00000345136,NM_201384.1;PLEC,missense_variant,p.Ala3530Val,ENST00000436759,NM_000445.3;PLEC,missense_variant,p.Ala3481Val,ENST00000354958,NM_201379.1;PLEC,missense_variant,p.Ala3503Val,ENST00000354589,NM_201382.2;PLEC,missense_variant,p.Ala3507Val,ENST00000357649,NM_201383.1;PLEC,missense_variant,p.Ala3489Val,ENST00000356346,NM_201378.2;PLEC,missense_variant,p.Ala3471Val,ENST00000398774,NM_201381.1;PLEC,missense_variant,p.Ala3526Val,ENST00000527096,;PLEC,downstream_gene_variant,,ENST00000527303,;	uc003zaf.1	c.10919C>T	11089/15249	2	2			c.10919C>T						8	SNP	c.(10918-10920)GCG>GTG	37	37			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9	Broad	plectin isoform 1			144993481		0.662	ENSG00000178209	11854	g.chr8:144993481G>A	cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle							-32.419712	KEEP	3	1	-1	99	69	3	1	-1	6.732763	99	69	0.025478	1	0	0	0	0	1	0	0	0	--	--		0	A			PLEC_uc003zab.1_Missense_Mutation_p.A3503V|PLEC_uc003zac.1_Missense_Mutation_p.A3507V|PLEC_uc003zad.2_Missense_Mutation_p.A3503V|PLEC_uc003zae.1_Missense_Mutation_p.A3471V|PLEC_uc003zag.1_Missense_Mutation_p.A3481V|PLEC_uc003zah.2_Missense_Mutation_p.A3489V|PLEC_uc003zaj.2_Missense_Mutation_p.A3530V	81	GBM-06-2557-TP	p.A3640V	G	GCTGGGGTCCGCCAGGACGCG	NM_201380	NP_958782	144993481	Q15149	PLEC_HUMAN	0			32	11089	-	A	A			Missense_Mutation	3640			Globular 2.|Plectin 16.			
PLEC	0	broad.mit.edu	GRCh37	8	144993831	144993831	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-26-1439-01	TCGA-26-1439-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322810.4:c.10569G>A	p.Ala3523=	p.A3523=	ENST00000322810	NM_201380.2	3523	gcG/gcA	0	T:0.0003		1			T	A	uc003zaf.1	protein_coding	YES	CCDS43772.1			10569/14055									large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9	c.(10567-10569)GCG>GCA			Gene3D:3.90.1290.10,Pfam_domain:PF00681,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF247,Low_complexity_(Seg):seg,SMART_domains:SM00250,Superfamily_domains:SSF75399	plectin isoform 1			T:0.0008	ENSP00000323856		32/32	0.000625	0.000254	0.00118			0.00102			rs373820763,COSM2156854,COSM2156856,COSM3412838,COSM2156857,COSM2156855	32/32	common_variant		ENST00000322810	Transcript	1		cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	ENSG00000178209	g.chr8:144993831C>T	9069			LOW								--	--	1																																		PLEC_uc003zab.1_Silent_p.A3386A|PLEC_uc003zac.1_Silent_p.A3390A|PLEC_uc003zad.2_Silent_p.A3386A|PLEC_uc003zae.1_Silent_p.A3354A|PLEC_uc003zag.1_Silent_p.A3364A|PLEC_uc003zah.2_Silent_p.A3372A|PLEC_uc003zaj.2_Silent_p.A3413A	0,1,1,1,1,1	1			p.A3523A	NM_201380	NP_958782			0,1,1,1,1,1	PLEC_HUMAN	PLEC	HGNC	Q15149	PLEC_HUMAN			Q96IE3_HUMAN,E9PQ28_HUMAN		32	10739	-			UPI0000233FCD	3523			Plectin 13.|Globular 2.		SNV	PLEC,synonymous_variant,p.=,ENST00000322810,NM_201380.2;PLEC,synonymous_variant,p.=,ENST00000345136,NM_201384.1;PLEC,synonymous_variant,p.=,ENST00000436759,NM_000445.3;PLEC,synonymous_variant,p.=,ENST00000354958,NM_201379.1;PLEC,synonymous_variant,p.=,ENST00000354589,NM_201382.2;PLEC,synonymous_variant,p.=,ENST00000357649,NM_201383.1;PLEC,synonymous_variant,p.=,ENST00000356346,NM_201378.2;PLEC,synonymous_variant,p.=,ENST00000398774,NM_201381.1;PLEC,synonymous_variant,p.=,ENST00000527096,;PLEC,downstream_gene_variant,,ENST00000527303,;	uc003zaf.1	c.10569G>A	10739/15249	2	2			c.10569G>A						8	SNP	c.(10567-10569)GCG>GCA	30	30			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9	Broad	plectin isoform 1			144993831		0.692	ENSG00000178209	11854	g.chr8:144993831C>T	cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle							17.420687	KEEP	5	8	-1	4	10	5	8	-1	17.475348	4	10	0.4375	1	0	0	0	0	0	0	1	0	--	--		0	T			PLEC_uc003zab.1_Silent_p.A3386A|PLEC_uc003zac.1_Silent_p.A3390A|PLEC_uc003zad.2_Silent_p.A3386A|PLEC_uc003zae.1_Silent_p.A3354A|PLEC_uc003zag.1_Silent_p.A3364A|PLEC_uc003zah.2_Silent_p.A3372A|PLEC_uc003zaj.2_Silent_p.A3413A	179	GBM-26-1439-TP	p.A3523A	C	CCAGCAGGAGCGCAGCCGTTG	NM_201380	NP_958782	144993831	Q15149	PLEC_HUMAN	0			32	10739	-	T	T			Silent	3523			Plectin 13.|Globular 2.			
PLEC	0	broad.mit.edu	GRCh37	8	144992145	144992145	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-5216-01	TCGA-28-5216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322810.4:c.12255G>A	p.Ser4085=	p.S4085=	ENST00000322810	NM_201380.2	4085	tcG/tcA	0			1			T	S	uc003zaf.1	protein_coding	YES	CCDS43772.1			12255/14055									large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9	c.(12253-12255)TCG>TCA			Gene3D:3.90.1290.10,Pfam_domain:PF00681,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF247,SMART_domains:SM00250,Superfamily_domains:SSF75399	plectin isoform 1				ENSP00000323856		32/32	0.000107		0.000977			1.57E-05		6.21E-05	rs782025071,COSM3412827,COSM3412829,COSM3412830,COSM3412831,COSM3412828	32/32	common_variant		ENST00000322810	Transcript	1		cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	ENSG00000178209	g.chr8:144992145C>T	9069			LOW								--	--	1																																		PLEC_uc003zab.1_Silent_p.S3948S|PLEC_uc003zac.1_Silent_p.S3952S|PLEC_uc003zad.2_Silent_p.S3948S|PLEC_uc003zae.1_Silent_p.S3916S|PLEC_uc003zag.1_Silent_p.S3926S|PLEC_uc003zah.2_Silent_p.S3934S|PLEC_uc003zaj.2_Silent_p.S3975S	0,1,1,1,1,1	1			p.S4085S	NM_201380	NP_958782			0,1,1,1,1,1	PLEC_HUMAN	PLEC	HGNC	Q15149	PLEC_HUMAN			Q96IE3_HUMAN,E9PQ28_HUMAN		32	12425	-			UPI0000233FCD	4085			Plectin 22.|Globular 2.		SNV	PLEC,synonymous_variant,p.=,ENST00000322810,NM_201380.2;PLEC,synonymous_variant,p.=,ENST00000345136,NM_201384.1;PLEC,synonymous_variant,p.=,ENST00000436759,NM_000445.3;PLEC,synonymous_variant,p.=,ENST00000354958,NM_201379.1;PLEC,synonymous_variant,p.=,ENST00000354589,NM_201382.2;PLEC,synonymous_variant,p.=,ENST00000357649,NM_201383.1;PLEC,synonymous_variant,p.=,ENST00000356346,NM_201378.2;PLEC,synonymous_variant,p.=,ENST00000398774,NM_201381.1;PLEC,synonymous_variant,p.=,ENST00000527096,;PLEC,downstream_gene_variant,,ENST00000527303,;	uc003zaf.1	c.12255G>A	12425/15249	2	2			c.12255G>A						8	SNP	c.(12253-12255)TCG>TCA	31	31			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9	Broad	plectin isoform 1			144992145		0.612	ENSG00000178209	11854	g.chr8:144992145C>T	cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle							39.214542	KEEP	12	4	-1	13	20	12	4	-1	40.57742	13	20	0.319149	1	0	0	0	0	0	0	1	0	--	--		0	T			PLEC_uc003zab.1_Silent_p.S3948S|PLEC_uc003zac.1_Silent_p.S3952S|PLEC_uc003zad.2_Silent_p.S3948S|PLEC_uc003zae.1_Silent_p.S3916S|PLEC_uc003zag.1_Silent_p.S3926S|PLEC_uc003zah.2_Silent_p.S3934S|PLEC_uc003zaj.2_Silent_p.S3975S	223	GBM-28-5216-TP	p.S4085S	C	CCTGGTACACCGAGAGCCGTT	NM_201380	NP_958782	144992145	Q15149	PLEC_HUMAN	0			32	12425	-	T	T			Silent	4085			Plectin 22.|Globular 2.			
PLEC	0	broad.mit.edu	GRCh37	8	144991998	144991998	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-32-4208-01	TCGA-32-4208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322810.4:c.12402C>G	p.Gly4134=	p.G4134=	ENST00000322810	NM_201380.2	4134	ggC/ggG	0			1			C	G	uc003zaf.1	protein_coding	YES	CCDS43772.1			12402/14055									large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9	c.(12400-12402)GGC>GGG			Gene3D:3.90.1290.10,Pfam_domain:PF00681,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF247,SMART_domains:SM00250,Superfamily_domains:SSF75399	plectin isoform 1				ENSP00000323856		32/32									COSM3412822,COSM3412824,COSM3412825,COSM3412826,COSM3412823	32/32	.		ENST00000322810	Transcript	1		cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	ENSG00000178209	g.chr8:144991998G>C	9069			LOW								--	--	1																																		PLEC_uc003zab.1_Silent_p.G3997G|PLEC_uc003zac.1_Silent_p.G4001G|PLEC_uc003zad.2_Silent_p.G3997G|PLEC_uc003zae.1_Silent_p.G3965G|PLEC_uc003zag.1_Silent_p.G3975G|PLEC_uc003zah.2_Silent_p.G3983G|PLEC_uc003zaj.2_Silent_p.G4024G	1,1,1,1,1	1			p.G4134G	NM_201380	NP_958782			1,1,1,1,1	PLEC_HUMAN	PLEC	HGNC	Q15149	PLEC_HUMAN			Q96IE3_HUMAN,E9PQ28_HUMAN		32	12572	-			UPI0000233FCD	4134			Plectin 23.|Globular 2.		SNV	PLEC,synonymous_variant,p.=,ENST00000322810,NM_201380.2;PLEC,synonymous_variant,p.=,ENST00000345136,NM_201384.1;PLEC,synonymous_variant,p.=,ENST00000436759,NM_000445.3;PLEC,synonymous_variant,p.=,ENST00000354958,NM_201379.1;PLEC,synonymous_variant,p.=,ENST00000354589,NM_201382.2;PLEC,synonymous_variant,p.=,ENST00000357649,NM_201383.1;PLEC,synonymous_variant,p.=,ENST00000356346,NM_201378.2;PLEC,synonymous_variant,p.=,ENST00000398774,NM_201381.1;PLEC,synonymous_variant,p.=,ENST00000527096,;PLEC,downstream_gene_variant,,ENST00000527303,;	uc003zaf.1	c.12402C>G	12572/15249	3	3			c.12402C>G						8	SNP	c.(12400-12402)GGC>GGG	60	60			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9	Broad	plectin isoform 1			144991998		0.622	ENSG00000178209	11854	g.chr8:144991998G>C	cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle							71.042316	KEEP	13	15	-1	23	21	13	15	-1	71.838904	23	21	0.380952	1	0	0	0	0	0	0	1	0	--	--		0	C			PLEC_uc003zab.1_Silent_p.G3997G|PLEC_uc003zac.1_Silent_p.G4001G|PLEC_uc003zad.2_Silent_p.G3997G|PLEC_uc003zae.1_Silent_p.G3965G|PLEC_uc003zag.1_Silent_p.G3975G|PLEC_uc003zah.2_Silent_p.G3983G|PLEC_uc003zaj.2_Silent_p.G4024G	243	GBM-32-4208-TP	p.G4134G	G	TGAACTCGGGGCCCACAATGC	NM_201380	NP_958782	144991998	Q15149	PLEC_HUMAN	0			32	12572	-	C	C			Silent	4134			Plectin 23.|Globular 2.			
PLEC	0	broad.mit.edu	GRCh37	8	144994985	144994985	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs137853161		TCGA-32-5222-01	TCGA-32-5222-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322810.4:c.9415C>T	p.Arg3139Ter	p.R3139*	ENST00000322810	NM_201380.2	3139	Cga/Tga	0			1			A	R/*	uc003zaf.1	protein_coding	YES	CCDS43772.1			9415/14055						pathogenic			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9	c.(9415-9417)CGA>TGA			Gene3D:3.90.1290.10,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF247,SMART_domains:SM00250,Superfamily_domains:SSF75399	plectin isoform 1				ENSP00000323856		32/32									rs137853161,COSM3412839,COSM3412841,COSM3412842,COSM3412843,COSM3412840	32/32	.		ENST00000322810	Transcript	1		cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	ENSG00000178209	g.chr8:144994985G>A	9069			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,8,144994985,G,A&fts=all	R3139*	--	--	1																																		PLEC_uc003zab.1_Nonsense_Mutation_p.R3002*|PLEC_uc003zac.1_Nonsense_Mutation_p.R3006*|PLEC_uc003zad.2_Nonsense_Mutation_p.R3002*|PLEC_uc003zae.1_Nonsense_Mutation_p.R2970*|PLEC_uc003zag.1_Nonsense_Mutation_p.R2980*|PLEC_uc003zah.2_Nonsense_Mutation_p.R2988*|PLEC_uc003zaj.2_Nonsense_Mutation_p.R3029*	1,1,1,1,1,1	1			p.R3139*	NM_201380	NP_958782			0,1,1,1,1,1	PLEC_HUMAN	PLEC	HGNC	Q15149	PLEC_HUMAN			Q96IE3_HUMAN,E9PQ28_HUMAN		32	9585	-			UPI0000233FCD	3139			Plectin 6.|Globular 2.		SNV	PLEC,stop_gained,p.Arg3139Ter,ENST00000322810,NM_201380.2;PLEC,stop_gained,p.Arg3002Ter,ENST00000345136,NM_201384.1;PLEC,stop_gained,p.Arg3029Ter,ENST00000436759,NM_000445.3;PLEC,stop_gained,p.Arg2980Ter,ENST00000354958,NM_201379.1;PLEC,stop_gained,p.Arg3002Ter,ENST00000354589,NM_201382.2;PLEC,stop_gained,p.Arg3006Ter,ENST00000357649,NM_201383.1;PLEC,stop_gained,p.Arg2988Ter,ENST00000356346,NM_201378.2;PLEC,stop_gained,p.Arg2970Ter,ENST00000398774,NM_201381.1;PLEC,stop_gained,p.Arg3025Ter,ENST00000527096,;PLEC,downstream_gene_variant,,ENST00000527303,;	uc003zaf.1	c.9415C>T	9585/15249	5	2			c.9415C>T						8	SNP	c.(9415-9417)CGA>TGA	43	43			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9	Broad	plectin isoform 1			144994985		0.687	ENSG00000178209	11854	g.chr8:144994985G>A	cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle							111.378095	KEEP	17	31	-1	25	33	17	31	-1	111.66905	25	33	0.43956	1	0	0	0	0	0	1	0	0	--	--		0	A			PLEC_uc003zab.1_Nonsense_Mutation_p.R3002*|PLEC_uc003zac.1_Nonsense_Mutation_p.R3006*|PLEC_uc003zad.2_Nonsense_Mutation_p.R3002*|PLEC_uc003zae.1_Nonsense_Mutation_p.R2970*|PLEC_uc003zag.1_Nonsense_Mutation_p.R2980*|PLEC_uc003zah.2_Nonsense_Mutation_p.R2988*|PLEC_uc003zaj.2_Nonsense_Mutation_p.R3029*	249	GBM-32-5222-TP	p.R3139*	G	CGCTCACCTCGCTGCAGCTGC	NM_201380	NP_958782	144994985	Q15149	PLEC_HUMAN	0			32	9585	-	A	A			Nonsense_Mutation	3139			Plectin 6.|Globular 2.			
PLEC	0	broad.mit.edu	GRCh37	8	144996426	144996426	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-2575-01	TCGA-41-2575-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322810.4:c.7974G>A	p.Gln2658=	p.Q2658=	ENST00000322810	NM_201380.2	2658	caG/caA	0			1			T	Q	uc003zaf.1	protein_coding	YES	CCDS43772.1			7974/14055									large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9	c.(7972-7974)CAG>CAA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF247	plectin isoform 1				ENSP00000323856		32/32									COSM3412844,COSM3412846,COSM3412847,COSM3412848,COSM3412845	32/32	.		ENST00000322810	Transcript	1		cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	ENSG00000178209	g.chr8:144996426C>T	9069			LOW								--	--	1																																		PLEC_uc003zab.1_Silent_p.Q2521Q|PLEC_uc003zac.1_Silent_p.Q2525Q|PLEC_uc003zad.2_Silent_p.Q2521Q|PLEC_uc003zae.1_Silent_p.Q2489Q|PLEC_uc003zag.1_Silent_p.Q2499Q|PLEC_uc003zah.2_Silent_p.Q2507Q|PLEC_uc003zaj.2_Silent_p.Q2548Q	1,1,1,1,1	1			p.Q2658Q	NM_201380	NP_958782			1,1,1,1,1	PLEC_HUMAN	PLEC	HGNC	Q15149	PLEC_HUMAN			Q96IE3_HUMAN,E9PQ28_HUMAN		32	8144	-			UPI0000233FCD	2658			Central fibrous rod domain.|Potential.		SNV	PLEC,synonymous_variant,p.=,ENST00000322810,NM_201380.2;PLEC,synonymous_variant,p.=,ENST00000345136,NM_201384.1;PLEC,synonymous_variant,p.=,ENST00000436759,NM_000445.3;PLEC,synonymous_variant,p.=,ENST00000354958,NM_201379.1;PLEC,synonymous_variant,p.=,ENST00000354589,NM_201382.2;PLEC,synonymous_variant,p.=,ENST00000357649,NM_201383.1;PLEC,synonymous_variant,p.=,ENST00000356346,NM_201378.2;PLEC,synonymous_variant,p.=,ENST00000398774,NM_201381.1;PLEC,synonymous_variant,p.=,ENST00000527096,;PLEC,synonymous_variant,p.=,ENST00000527303,;	uc003zaf.1	c.7974G>A	8144/15249	1	1			c.7974G>A						8	SNP	c.(7972-7974)CAG>CAA	2	2			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9	Broad	plectin isoform 1			144996426		0.488	ENSG00000178209	11854	g.chr8:144996426C>T	cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle							39.798713	KEEP	5	7	-1	8	5	5	7	-1	39.807431	8	5	0.48	1	0	0	0	0	0	0	1	0	--	--		0	T			PLEC_uc003zab.1_Silent_p.Q2521Q|PLEC_uc003zac.1_Silent_p.Q2525Q|PLEC_uc003zad.2_Silent_p.Q2521Q|PLEC_uc003zae.1_Silent_p.Q2489Q|PLEC_uc003zag.1_Silent_p.Q2499Q|PLEC_uc003zah.2_Silent_p.Q2507Q|PLEC_uc003zaj.2_Silent_p.Q2548Q	253	GBM-41-2575-TP	p.Q2658Q	C	CCACCTCGTCCTGGAAGAGCT	NM_201380	NP_958782	144996426	Q15149	PLEC_HUMAN	0			32	8144	-	T	T			Silent	2658			Central fibrous rod domain.|Potential.			
PLEC	5339		GRCh37	8	144990758	144990758	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000322810.4:c.13642G>A	p.Ala4548Thr	p.A4548T	ENST00000322810	NM_201380.2	4548	Gcc/Acc	0																																																																																																																																																																																																																																												
PLEC	5339		GRCh37	8	144992335	144992335	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000322810.4:c.12065T>C	p.Phe4022Ser	p.F4022S	ENST00000322810	NM_201380.2	4022	tTc/tCc	0																																																																																																																																																																																																																																												
PLEK2	26499	broad.mit.edu	GRCh37	14	67864439	67864439	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-0645-01	TCGA-06-0645-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216446.4:c.147C>A	p.Gly49=	p.G49=	ENST00000216446	NM_016445.1	49	ggC/ggA	0			1			T	G	uc001xjh.1	protein_coding	YES	CCDS9782.1			147/1062									ovary(1)|pancreas(1)	2	c.(145-147)GGC>GGA			PROSITE_profiles:PS50003,hmmpanther:PTHR12092:SF2,hmmpanther:PTHR12092,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	pleckstrin 2				ENSP00000216446		9-Feb									COSM2151254	9-Feb	.		ENST00000216446	Transcript			actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane		ENSG00000100558	g.chr14:67864439G>T	19238			LOW								--	--	1																																			1	1			p.G49G	NM_016445	NP_057529			1	PLEK2_HUMAN	PLEK2	HGNC	Q9NYT0	PLEK2_HUMAN		all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)			2	199	-			UPI0000035D89	49			PH 1.		SNV	PLEK2,synonymous_variant,p.=,ENST00000216446,NM_016445.1;PLEK2,upstream_gene_variant,,ENST00000554395,;PLEK2,downstream_gene_variant,,ENST00000557388,;PLEK2,synonymous_variant,p.=,ENST00000553387,;PLEK2,synonymous_variant,p.=,ENST00000555803,;	uc001xjh.1	c.147C>A	288/1549	1	1			c.147C>A						14	SNP	c.(145-147)GGC>GGA	1	1			ovary(1)|pancreas(1)	2	Broad	pleckstrin 2			67864439		0.592	ENSG00000100558	11856	g.chr14:67864439G>T	actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane								33.617962	KEEP	8	6	0.571428571	16	14	8	6	0.571428571	35.028428	16	14	0.3	1	0	0	0	0	0	0	1	0	--	--		0	T				59	GBM-06-0645-TP	p.G49G	G	GGAGGATCCGGCCCTTGGGAG	NM_016445	NP_057529	67864439	Q9NYT0	PLEK2_HUMAN	0		all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	2	199	-	T	T			Silent	49			PH 1.			
PLEKHA3	0	broad.mit.edu	GRCh37	2	179365815	179365815	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-76-6192-01	TCGA-76-6192-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000234453.5:c.687A>T	p.Val229=	p.V229=	ENST00000234453	NM_019091.3	229	gtA/gtT	0			1			T	V	uc002umn.2	protein_coding	YES	CCDS33336.1			687/903									ovary(1)|kidney(1)	2	c.(685-687)GTA>GTT			hmmpanther:PTHR10219,hmmpanther:PTHR10219:SF15	pleckstrin homology domain containing, family A				ENSP00000234453		8-Jul									COSM3407084	8-Jul	.		ENST00000234453	Transcript				cytoplasm|membrane		ENSG00000116095	g.chr2:179365815A>T	14338			LOW								--	--	1																																			1	1			p.V229V	NM_019091	NP_061964			1	PKHA3_HUMAN	PLEKHA3	HGNC	Q9HB20	PKHA3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)				7	1085	+			UPI000000DA8A	229					SNV	PLEKHA3,synonymous_variant,p.=,ENST00000234453,NM_019091.3;PLEKHA3,synonymous_variant,p.=,ENST00000421187,;	uc002umn.2	c.687A>T	1089/13880	2	2			c.687A>T						2	SNP	c.(685-687)GTA>GTT	30	30			ovary(1)|kidney(1)	2	Broad	pleckstrin homology domain containing, family A			179365815		0.378	ENSG00000116095	11859	g.chr2:179365815A>T		cytoplasm|membrane								61.123192	KEEP	12	16	-1	33	32	12	16	-1	64.605873	33	32	0.278481	1	0	0	0	0	0	0	1	0	--	--		0	T				275	GBM-76-6192-TP	p.V229V	A	AAGAACCAGTATCTACACTTC	NM_019091	NP_061964	179365815	Q9HB20	PKHA3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)		7	1085	+	T	T			Silent	229						
PLEKHA4	0	broad.mit.edu	GRCh37	19	49360714	49360714	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5958-01	TCGA-19-5958-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263265.6:c.1012C>T	p.Arg338Trp	p.R338W	ENST00000263265	NM_020904.2	338	Cgg/Tgg	0			1			A	R/W	uc002pkx.2	protein_coding	YES	CCDS12737.1			1012/2340									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(1012-1014)CGG>TGG			hmmpanther:PTHR12752	pleckstrin homology domain containing family A				ENSP00000263265		20-Sep	0.000388			0.00018	0.011	0.000178			rs201722692,COSM2156829	20-Sep	common_variant		ENST00000263265	Transcript				cytoplasm|membrane	1-phosphatidylinositol binding	ENSG00000105559	g.chr19:49360714G>A	14339			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=PKHA4_HUMAN&rb=154&re=353&var=R338W	NA	getma.org/?cm=var&var=hg19,19,49360714,G,A&fts=all	R338W	--	--	1																																		PLEKHA4_uc002pkw.1_Intron|PLEKHA4_uc010eml.2_Intron	0,1	1		probably_damaging(0.989)	p.R338W	NM_020904	NP_065955		deleterious(0)	0,1	PKHA4_HUMAN	PLEKHA4	HGNC	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	M0R2K5_HUMAN,M0QXJ3_HUMAN		9	1563	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	UPI00000721A6	338			Pro-rich.		SNV	PLEKHA4,missense_variant,p.Arg338Trp,ENST00000263265,NM_020904.2;PLEKHA4,5_prime_UTR_variant,,ENST00000594195,;PLEKHA4,intron_variant,,ENST00000355496,NM_001161354.1;PLEKHA4,intron_variant,,ENST00000595867,;PLEKHA4,downstream_gene_variant,,ENST00000594100,;PLEKHA4,downstream_gene_variant,,ENST00000596713,;PLEKHA4,downstream_gene_variant,,ENST00000596982,;	uc002pkx.2	c.1012C>T	1568/3088	2	2			c.1012C>T						19	SNP	c.(1012-1014)CGG>TGG	43	43			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	pleckstrin homology domain containing family A			49360714		0.512	ENSG00000105559	11860	g.chr19:49360714G>A		cytoplasm|membrane	1-phosphatidylinositol binding							38.337891	KEEP	11	4	-1	11	13	11	4	-1	38.64521	11	13	0.4	1	0	0	0	0	1	0	0	0	--	--		0	A			PLEKHA4_uc002pkw.1_Intron|PLEKHA4_uc010eml.2_Intron	176	GBM-19-5958-TP	p.R338W	G	CCAGGGGGCCGCGGGGGGAGC	NM_020904	NP_065955	49360714	Q9H4M7	PKHA4_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	9	1563	-	A	A		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	Missense_Mutation	338			Pro-rich.			
PLEKHA5	54477	broad.mit.edu	GRCh37	12	19285373	19285373	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-5856-01	TCGA-06-5856-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000429027.2:c.216A>T	p.Arg72Ser	p.R72S	ENST00000429027	NM_001256470.1	72	agA/agT	0			1			T	R/S	uc001reb.2	protein_coding		CCDS8682.1			216/3351									ovary(1)|kidney(1)|skin(1)	3	c.(214-216)AGA>AGT			PROSITE_profiles:PS50020,hmmpanther:PTHR12752,hmmpanther:PTHR12752:SF3,Pfam_domain:PF00397,Gene3D:2.20.70.10,SMART_domains:SM00456,Superfamily_domains:SSF51045	pleckstrin homology domain containing, family A				ENSP00000299275		26-Mar									COSM3398587,COSM3398589,COSM3398588	26-Mar	.		ENST00000299275	Transcript					1-phosphatidylinositol binding|protein binding	ENSG00000052126	g.chr12:19285373A>T	30036			MODERATE		0.68	neutral	getma.org/?cm=msa&ty=f&p=PKHA5_HUMAN&rb=58&re=87&var=R72S	getma.org/pdb.php?prot=PKHA5_HUMAN&from=58&to=87&var=R72S	getma.org/?cm=var&var=hg19,12,19285373,A,T&fts=all	R72S	--	--	1																																		PLEKHA5_uc010sie.1_Missense_Mutation_p.R72S|PLEKHA5_uc001rea.2_Missense_Mutation_p.R72S|PLEKHA5_uc009zin.2_5'UTR|PLEKHA5_uc001rdz.3_Missense_Mutation_p.R72S	1,1,1			benign(0.257)	p.R72S	NM_019012	NP_061885		tolerated(0.07)	1,1,1	PKHA5_HUMAN	PLEKHA5	HGNC	Q9HAU0	PKHA5_HUMAN			F5H1X3_HUMAN,B4DMB9_HUMAN,A0JP02_HUMAN		3	302	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		UPI0000040B78	72			WW 2.		SNV	PLEKHA5,missense_variant,p.Arg72Ser,ENST00000538714,NM_001143821.2;PLEKHA5,missense_variant,p.Arg72Ser,ENST00000429027,NM_001256470.1;PLEKHA5,missense_variant,p.Arg72Ser,ENST00000317589,;PLEKHA5,missense_variant,p.Arg72Ser,ENST00000355397,;PLEKHA5,missense_variant,p.Arg72Ser,ENST00000299275,NM_019012.5;PLEKHA5,missense_variant,p.Arg72Ser,ENST00000359180,;PLEKHA5,missense_variant,p.Arg72Ser,ENST00000309364,;PLEKHA5,missense_variant,p.Arg72Ser,ENST00000540972,NM_001190860.2;PLEKHA5,5_prime_UTR_variant,,ENST00000539256,;PLEKHA5,non_coding_transcript_exon_variant,,ENST00000535357,;PLEKHA5,non_coding_transcript_exon_variant,,ENST00000538034,;	uc001reb.2	c.216A>T	222/4238	2	2			c.216A>T						12	SNP	c.(214-216)AGA>AGT	17	17			ovary(1)|kidney(1)|skin(1)	3	Broad	pleckstrin homology domain containing, family A			19285373		0.313	ENSG00000052126	11861	g.chr12:19285373A>T			1-phosphatidylinositol binding|protein binding	Pancreas(196;329 2193 11246 14234 19524)		873	Pancreas(196;329 2193 11246 14234 19524)		873	-8.150289	KEEP	1	3	-1	47	40	1	3	-1	8.461986	47	40	0.051282	1	0	0	0	0	1	0	0	0	--	--		0	T			PLEKHA5_uc010sie.1_Missense_Mutation_p.R72S|PLEKHA5_uc001rea.2_Missense_Mutation_p.R72S|PLEKHA5_uc009zin.2_5'UTR|PLEKHA5_uc001rdz.3_Missense_Mutation_p.R72S	101	GBM-06-5856-TP	p.R72S	A	AAGGTGCAAGATACTATATAA	NM_019012	NP_061885	19285373	Q9HAU0	PKHA5_HUMAN	0			3	302	+	T	T	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		Missense_Mutation	72			WW 2.			
PLEKHA5	0	broad.mit.edu	GRCh37	12	19436597	19436597	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299275.6:c.1679G>A	p.Arg560Gln	p.R560Q	ENST00000299275	NM_019012.5	560	cGa/cAa	0			1			A	R/Q	uc001reb.2	protein_coding		CCDS8682.1			1679/3351									ovary(1)|kidney(1)|skin(1)	3	c.(1678-1680)CGA>CAA			hmmpanther:PTHR12752,hmmpanther:PTHR12752:SF3	pleckstrin homology domain containing, family A				ENSP00000299275		26-Nov	2.47E-05					4.50E-05			rs752042146,COSM3398594,COSM3398596,COSM3398595	26-Nov	.		ENST00000299275	Transcript					1-phosphatidylinositol binding|protein binding	ENSG00000052126	g.chr12:19436597G>A	30036			MODERATE		2.835	medium	getma.org/?cm=msa&ty=f&p=PKHA5_HUMAN&rb=276&re=917&var=R560Q	NA	getma.org/?cm=var&var=hg19,12,19436597,G,A&fts=all	R560Q	--	--	1																																		PLEKHA5_uc010sie.1_Missense_Mutation_p.R566Q|PLEKHA5_uc001rea.2_Missense_Mutation_p.R560Q|PLEKHA5_uc009zin.2_Missense_Mutation_p.R318Q|PLEKHA5_uc010sif.1_Missense_Mutation_p.R452Q|PLEKHA5_uc010sig.1_Missense_Mutation_p.R452Q|PLEKHA5_uc010sih.1_Missense_Mutation_p.R452Q|PLEKHA5_uc001rec.1_Missense_Mutation_p.R248Q	0,1,1,1			probably_damaging(0.997)	p.R560Q	NM_019012	NP_061885		deleterious(0.02)	0,1,1,1	PKHA5_HUMAN	PLEKHA5	HGNC	Q9HAU0	PKHA5_HUMAN			F5H1X3_HUMAN,B4DMB9_HUMAN,A0JP02_HUMAN		11	1765	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		UPI0000040B78	560					SNV	PLEKHA5,missense_variant,p.Arg560Gln,ENST00000538714,NM_001143821.2;PLEKHA5,missense_variant,p.Arg566Gln,ENST00000429027,NM_001256470.1;PLEKHA5,missense_variant,p.Arg560Gln,ENST00000317589,;PLEKHA5,missense_variant,p.Arg560Gln,ENST00000355397,;PLEKHA5,missense_variant,p.Arg452Gln,ENST00000424268,;PLEKHA5,missense_variant,p.Arg560Gln,ENST00000299275,NM_019012.5;PLEKHA5,missense_variant,p.Arg560Gln,ENST00000359180,;PLEKHA5,missense_variant,p.Arg452Gln,ENST00000543806,NM_001256787.1;PLEKHA5,missense_variant,p.Arg318Gln,ENST00000539256,;PLEKHA5,missense_variant,p.Arg452Gln,ENST00000536974,;PLEKHA5,missense_variant,p.Arg560Gln,ENST00000309364,;PLEKHA5,non_coding_transcript_exon_variant,,ENST00000510738,;PLEKHA5,missense_variant,p.Arg10Gln,ENST00000538677,;	uc001reb.2	c.1679G>A	1685/4238	1	1			c.1679G>A						12	SNP	c.(1678-1680)CGA>CAA	60	60			ovary(1)|kidney(1)|skin(1)	3	Broad	pleckstrin homology domain containing, family A			19436597		0.468	ENSG00000052126	11861	g.chr12:19436597G>A			1-phosphatidylinositol binding|protein binding	Pancreas(196;329 2193 11246 14234 19524)		873	Pancreas(196;329 2193 11246 14234 19524)		873	84.103919	KEEP	16	12	-1	26	26	16	12	-1	85.567627	26	26	0.35443	1	0	0	0	0	1	0	0	0	--	--		0	A			PLEKHA5_uc010sie.1_Missense_Mutation_p.R566Q|PLEKHA5_uc001rea.2_Missense_Mutation_p.R560Q|PLEKHA5_uc009zin.2_Missense_Mutation_p.R318Q|PLEKHA5_uc010sif.1_Missense_Mutation_p.R452Q|PLEKHA5_uc010sig.1_Missense_Mutation_p.R452Q|PLEKHA5_uc010sih.1_Missense_Mutation_p.R452Q|PLEKHA5_uc001rec.1_Missense_Mutation_p.R248Q	125	GBM-12-3649-TP	p.R560Q	G	TCCCCTCAACGAACTTACAGA	NM_019012	NP_061885	19436597	Q9HAU0	PKHA5_HUMAN	0			11	1765	+	A	A	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		Missense_Mutation	560						
PLEKHA5	0	broad.mit.edu	GRCh37	12	19436297	19436297	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-6192-01	TCGA-76-6192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299275.6:c.1379C>G	p.Thr460Arg	p.T460R	ENST00000299275	NM_019012.5	460	aCa/aGa	0			1			G	T/R	uc001reb.2	protein_coding		CCDS8682.1			1379/3351									ovary(1)|kidney(1)|skin(1)	3	c.(1378-1380)ACA>AGA			hmmpanther:PTHR12752,hmmpanther:PTHR12752:SF3	pleckstrin homology domain containing, family A				ENSP00000299275		26-Nov									COSM3398591,COSM3398593,COSM3398592	26-Nov	.		ENST00000299275	Transcript					1-phosphatidylinositol binding|protein binding	ENSG00000052126	g.chr12:19436297C>G	30036			MODERATE		2.455	medium	getma.org/?cm=msa&ty=f&p=PKHA5_HUMAN&rb=276&re=917&var=T460R	NA	getma.org/?cm=var&var=hg19,12,19436297,C,G&fts=all	T460R	--	--	1																																		PLEKHA5_uc010sie.1_Missense_Mutation_p.T466R|PLEKHA5_uc001rea.2_Missense_Mutation_p.T460R|PLEKHA5_uc009zin.2_Missense_Mutation_p.T218R|PLEKHA5_uc010sif.1_Missense_Mutation_p.T352R|PLEKHA5_uc010sig.1_Missense_Mutation_p.T352R|PLEKHA5_uc010sih.1_Missense_Mutation_p.T352R|PLEKHA5_uc001rec.1_Missense_Mutation_p.T148R	1,1,1			probably_damaging(0.998)	p.T460R	NM_019012	NP_061885		deleterious(0.04)	1,1,1	PKHA5_HUMAN	PLEKHA5	HGNC	Q9HAU0	PKHA5_HUMAN			F5H1X3_HUMAN,B4DMB9_HUMAN,A0JP02_HUMAN		11	1465	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		UPI0000040B78	460					SNV	PLEKHA5,missense_variant,p.Thr460Arg,ENST00000538714,NM_001143821.2;PLEKHA5,missense_variant,p.Thr466Arg,ENST00000429027,NM_001256470.1;PLEKHA5,missense_variant,p.Thr460Arg,ENST00000317589,;PLEKHA5,missense_variant,p.Thr460Arg,ENST00000355397,;PLEKHA5,missense_variant,p.Thr352Arg,ENST00000424268,;PLEKHA5,missense_variant,p.Thr460Arg,ENST00000299275,NM_019012.5;PLEKHA5,missense_variant,p.Thr460Arg,ENST00000359180,;PLEKHA5,missense_variant,p.Thr352Arg,ENST00000543806,NM_001256787.1;PLEKHA5,missense_variant,p.Thr218Arg,ENST00000539256,;PLEKHA5,missense_variant,p.Thr352Arg,ENST00000536974,;PLEKHA5,missense_variant,p.Thr460Arg,ENST00000309364,;PLEKHA5,non_coding_transcript_exon_variant,,ENST00000510738,;PLEKHA5,upstream_gene_variant,,ENST00000538677,;	uc001reb.2	c.1379C>G	1385/4238	3	3			c.1379C>G						12	SNP	c.(1378-1380)ACA>AGA	53	53			ovary(1)|kidney(1)|skin(1)	3	Broad	pleckstrin homology domain containing, family A			19436297		0.438	ENSG00000052126	11861	g.chr12:19436297C>G			1-phosphatidylinositol binding|protein binding	Pancreas(196;329 2193 11246 14234 19524)		873	Pancreas(196;329 2193 11246 14234 19524)		873	53.496381	KEEP	8	10	-1	8	24	8	10	-1	54.431857	8	24	0.347826	1	0	0	0	0	1	0	0	0	--	--		0	G			PLEKHA5_uc010sie.1_Missense_Mutation_p.T466R|PLEKHA5_uc001rea.2_Missense_Mutation_p.T460R|PLEKHA5_uc009zin.2_Missense_Mutation_p.T218R|PLEKHA5_uc010sif.1_Missense_Mutation_p.T352R|PLEKHA5_uc010sig.1_Missense_Mutation_p.T352R|PLEKHA5_uc010sih.1_Missense_Mutation_p.T352R|PLEKHA5_uc001rec.1_Missense_Mutation_p.T148R	275	GBM-76-6192-TP	p.T460R	C	GGTTATAGAACACTCCCAAGA	NM_019012	NP_061885	19436297	Q9HAU0	PKHA5_HUMAN	0			11	1465	+	G	G	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		Missense_Mutation	460						
PLEKHA7	144100	broad.mit.edu	GRCh37	11	16838834	16838834	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355661.3:c.1379C>T	p.Pro460Leu	p.P460L	ENST00000355661		460	cCt/cTt	0			1			A	P/L	uc001mmo.2	protein_coding	YES	CCDS31434.1			1379/3366									skin(2)|central_nervous_system(1)	3	c.(1378-1380)CCT>CTT			hmmpanther:PTHR12752:SF4,hmmpanther:PTHR12752	pleckstrin homology domain containing, family A				ENSP00000347883		23-Nov										23-Nov	.		ENST00000355661	Transcript			epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	ENSG00000166689	g.chr11:16838834G>A	27049			MODERATE		2.18	medium	getma.org/?cm=msa&ty=f&p=PKHA7_HUMAN&rb=287&re=851&var=P460L	NA	getma.org/?cm=var&var=hg19,11,16838834,G,A&fts=all	P460L	--	--	1																																		PLEKHA7_uc010rcu.1_Missense_Mutation_p.P460L|PLEKHA7_uc010rcv.1_Missense_Mutation_p.P34L|PLEKHA7_uc001mmn.2_Missense_Mutation_p.P168L		1		benign(0.354)	p.P460L	NM_175058	NP_778228		deleterious(0)		PKHA7_HUMAN	PLEKHA7	HGNC	Q6IQ23	PKHA7_HUMAN			E9PL74_HUMAN,E9PIK1_HUMAN		11	1394	-			UPI0000456498	460					SNV	PLEKHA7,missense_variant,p.Pro460Leu,ENST00000355661,;PLEKHA7,missense_variant,p.Pro460Leu,ENST00000448080,NM_175058.4;PLEKHA7,missense_variant,p.Pro460Leu,ENST00000531066,;PLEKHA7,missense_variant,p.Pro91Leu,ENST00000530489,;PLEKHA7,intron_variant,,ENST00000532079,;PLEKHA7,upstream_gene_variant,,ENST00000525581,;PLEKHA7,non_coding_transcript_exon_variant,,ENST00000525781,;PLEKHA7,upstream_gene_variant,,ENST00000525049,;	uc001mmo.2	c.1379C>T	1390/4980	2	2			c.1379C>T						11	SNP	c.(1378-1380)CCT>CTT	22	22			skin(2)|central_nervous_system(1)	3	Broad	pleckstrin homology domain containing, family A			16838834		0.602	ENSG00000166689	11863	g.chr11:16838834G>A	epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding							-25.147857	KEEP	0	4	-1	76	60	0	4	-1	6.307349	76	60	0.031008	1	0	0	0	0	1	0	0	0	--	--		0	A			PLEKHA7_uc010rcu.1_Missense_Mutation_p.P460L|PLEKHA7_uc010rcv.1_Missense_Mutation_p.P34L|PLEKHA7_uc001mmn.2_Missense_Mutation_p.P168L	18	GBM-06-0137-TP	p.P460L	G	GGATTGGCCAGGACCCTGGCG	NM_175058	NP_778228	16838834	Q6IQ23	PKHA7_HUMAN	0			11	1394	-	A	A			Missense_Mutation	460						
PLEKHA7	144100	broad.mit.edu	GRCh37	11	16847767	16847767	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355661.3:c.1243G>A	p.Ala415Thr	p.A415T	ENST00000355661		415	Gcc/Acc	0			1			T	A/T	uc001mmo.2	protein_coding	YES	CCDS31434.1			1243/3366									skin(2)|central_nervous_system(1)	3	c.(1243-1245)GCC>ACC			hmmpanther:PTHR12752:SF4,hmmpanther:PTHR12752	pleckstrin homology domain containing, family A				ENSP00000347883		23-Oct									COSM3397589	23-Oct	.		ENST00000355661	Transcript			epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	ENSG00000166689	g.chr11:16847767C>T	27049			MODERATE		-0.895	neutral	getma.org/?cm=msa&ty=f&p=PKHA7_HUMAN&rb=287&re=851&var=A415T	NA	getma.org/?cm=var&var=hg19,11,16847767,C,T&fts=all	A415T	--	--	1																																		PLEKHA7_uc010rcu.1_Missense_Mutation_p.A415T|PLEKHA7_uc001mmn.2_Missense_Mutation_p.A123T	1	1		benign(0.001)	p.A415T	NM_175058	NP_778228		tolerated(0.43)	1	PKHA7_HUMAN	PLEKHA7	HGNC	Q6IQ23	PKHA7_HUMAN			E9PL74_HUMAN,E9PIK1_HUMAN		10	1258	-			UPI0000456498	415					SNV	PLEKHA7,missense_variant,p.Ala415Thr,ENST00000355661,;PLEKHA7,missense_variant,p.Ala415Thr,ENST00000448080,NM_175058.4;PLEKHA7,missense_variant,p.Ala415Thr,ENST00000531066,;PLEKHA7,missense_variant,p.Ala46Thr,ENST00000530489,;PLEKHA7,intron_variant,,ENST00000532079,;	uc001mmo.2	c.1243G>A	1254/4980	2	2			c.1243G>A						11	SNP	c.(1243-1245)GCC>ACC	46	46			skin(2)|central_nervous_system(1)	3	Broad	pleckstrin homology domain containing, family A			16847767		0.592	ENSG00000166689	11863	g.chr11:16847767C>T	epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding							741.541875	KEEP	113	128	-1	27	31	113	128	-1	765.843213	27	31	0.802817	1	0	0	0	0	1	0	0	0	--	--		0	T			PLEKHA7_uc010rcu.1_Missense_Mutation_p.A415T|PLEKHA7_uc001mmn.2_Missense_Mutation_p.A123T	102	GBM-06-5858-TP	p.A415T	C	GGAGGAAAGGCCCGCTGGTAC	NM_175058	NP_778228	16847767	Q6IQ23	PKHA7_HUMAN	0			10	1258	-	T	T			Missense_Mutation	415						
PLEKHA8	0	broad.mit.edu	GRCh37	7	30088881	30088882	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-19-5954-01	TCGA-19-5954-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449726.1:c.481dupA	p.Thr161AsnfsTer20	p.T161Nfs*20	ENST00000449726	NM_001197027.1	160	-/A	0			1			A	-/X	uc003tam.1	protein_coding	YES	CCDS56473.1			480-481/1560									breast(3)|ovary(1)	4	c.(478-483)AATACTfs			hmmpanther:PTHR10219,hmmpanther:PTHR10219:SF16	pleckstrin homology domain containing, family A				ENSP00000397947		14-May										14-May	.		ENST00000449726	Transcript			protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	ENSG00000106086	g.chr7:30088881_30088882insA	30037	1		HIGH								--	--	1																																		PLEKHA8_uc003tao.2_Frame_Shift_Ins_p.N44fs|PLEKHA8_uc003tap.1_Frame_Shift_Ins_p.N160fs|PLEKHA8_uc003tan.2_Frame_Shift_Ins_p.N160fs		1			p.N160fs	NM_032639	NP_116028				PKHA8_HUMAN	PLEKHA8	HGNC	Q96JA3	PKHA8_HUMAN					5	571_572	+			UPI000020ECE0	160_161					insertion	PLEKHA8,frameshift_variant,p.Thr187AsnfsTer20,ENST00000440706,NM_001197026.1;PLEKHA8,frameshift_variant,p.Thr161AsnfsTer20,ENST00000449726,NM_001197027.1;PLEKHA8,frameshift_variant,p.Thr161AsnfsTer20,ENST00000396259,;PLEKHA8,frameshift_variant,p.Thr161AsnfsTer20,ENST00000258679,NM_032639.3;PLEKHA8,frameshift_variant,p.Thr161AsnfsTer20,ENST00000396257,;PLEKHA8,downstream_gene_variant,,ENST00000483799,;PLEKHA8,non_coding_transcript_exon_variant,,ENST00000498106,;	uc003tam.1	c.480_481insA	830-831/3050	5	5			c.480_481insA						7	INS	c.(478-483)AATACTfs	3	3			breast(3)|ovary(1)	4	Broad	pleckstrin homology domain containing, family A			30088882		0.465	ENSG00000106086	11864	g.chr7:30088881_30088882insA	protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity																				0.28	1	0	0	1	1	0	0	0	0	--	--		0	A			PLEKHA8_uc003tao.2_Frame_Shift_Ins_p.N44fs|PLEKHA8_uc003tap.1_Frame_Shift_Ins_p.N160fs|PLEKHA8_uc003tan.2_Frame_Shift_Ins_p.N160fs	174	GBM-19-5954-TP	p.N160fs	-	CAACCTGTAATACTTTTCTGAA	NM_032639	NP_116028	30088881	Q96JA3	PKHA8_HUMAN	0			5	571_572	+	A	A			Frame_Shift_Ins	160_161						
PLEKHG1	57480	broad.mit.edu	GRCh37	6	151152163	151152163	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01	TCGA-02-0047-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367328.1:c.1916G>A	p.Gly639Glu	p.G639E	ENST00000367328	NM_001029884.1	639	gGg/gAg	0			1			A	G/E	uc003qny.1	protein_coding		CCDS34552.1			1916/4158									ovary(2)	2	c.(1915-1917)GGG>GAG			hmmpanther:PTHR22826:SF90,hmmpanther:PTHR22826	pleckstrin homology domain containing, family G				ENSP00000351318		15/16									COSM2148990	15/16	.		ENST00000358517	Transcript			regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	ENSG00000120278	g.chr6:151152163G>A	20884			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=PKHG1_HUMAN&rb=522&re=1383&var=G639E	NA	getma.org/?cm=var&var=hg19,6,151152163,G,A&fts=all	G639E	--	--	1																																		PLEKHG1_uc011eel.1_Missense_Mutation_p.G679E|PLEKHG1_uc011eem.1_Missense_Mutation_p.G698E|PLEKHG1_uc003qnz.2_Missense_Mutation_p.G639E	1			benign(0.033)	p.G639E	NM_001029884	NP_001025055		tolerated(0.25)	1	PKHG1_HUMAN	PLEKHG1	HGNC	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	Q5T1F3_HUMAN,Q5JYA6_HUMAN,Q5EBL9_HUMAN		16	2228	+			UPI000015FC80	639					SNV	PLEKHG1,missense_variant,p.Gly639Glu,ENST00000367328,NM_001029884.1;PLEKHG1,missense_variant,p.Gly639Glu,ENST00000358517,;PLEKHG1,intron_variant,,ENST00000475490,;PDCL3P5,downstream_gene_variant,,ENST00000398028,;	uc003qny.1	c.1916G>A	2127/7136	1	1			c.1916G>A						6	SNP	c.(1915-1917)GGG>GAG	63	63			ovary(2)	2	Broad	pleckstrin homology domain containing, family G			151152163		0.478	ENSG00000120278	11870	g.chr6:151152163G>A	regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity							59.846192	KEEP	9	15	-1	47	37	9	15	-1	66.754413	47	37	0.230769	1	0	0	0	0	1	0	0	0	--	--		0	A			PLEKHG1_uc011eel.1_Missense_Mutation_p.G679E|PLEKHG1_uc011eem.1_Missense_Mutation_p.G698E|PLEKHG1_uc003qnz.2_Missense_Mutation_p.G639E	3	GBM-02-0047-TP	p.G639E	G	AAAACAGAAGGGCAGGAGGAG	NM_001029884	NP_001025055	151152163	Q9ULL1	PKHG1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	16	2228	+	A	A			Missense_Mutation	639						
PLEKHG1	57480	broad.mit.edu	GRCh37	6	151151882	151151882	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0221-01	TCGA-06-0221-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367328.1:c.1635C>T	p.Ser545=	p.S545=	ENST00000367328	NM_001029884.1	545	agC/agT	0			1			T	S	uc003qny.1	protein_coding		CCDS34552.1			1635/4158									ovary(2)	2	c.(1633-1635)AGC>AGT			hmmpanther:PTHR22826:SF90,hmmpanther:PTHR22826	pleckstrin homology domain containing, family G				ENSP00000351318		15/16									COSM3410661	15/16	.		ENST00000358517	Transcript			regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	ENSG00000120278	g.chr6:151151882C>T	20884			LOW								--	--	1																																		PLEKHG1_uc011eel.1_Silent_p.S585S|PLEKHG1_uc011eem.1_Silent_p.S604S|PLEKHG1_uc003qnz.2_Silent_p.S545S	1				p.S545S	NM_001029884	NP_001025055			1	PKHG1_HUMAN	PLEKHG1	HGNC	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	Q5T1F3_HUMAN,Q5JYA6_HUMAN,Q5EBL9_HUMAN		16	1947	+			UPI000015FC80	545					SNV	PLEKHG1,synonymous_variant,p.=,ENST00000367328,NM_001029884.1;PLEKHG1,synonymous_variant,p.=,ENST00000358517,;PLEKHG1,intron_variant,,ENST00000475490,;PDCL3P5,downstream_gene_variant,,ENST00000398028,;	uc003qny.1	c.1635C>T	1846/7136	2	2			c.1635C>T						6	SNP	c.(1633-1635)AGC>AGT	35	35			ovary(2)	2	Broad	pleckstrin homology domain containing, family G			151151882		0.517	ENSG00000120278	11870	g.chr6:151151882C>T	regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity							19.941482	KEEP	8	5	-1	41	42	8	5	-1	29.803275	41	42	0.146341	1	0	0	0	0	0	0	1	0	--	--		0	T			PLEKHG1_uc011eel.1_Silent_p.S585S|PLEKHG1_uc011eem.1_Silent_p.S604S|PLEKHG1_uc003qnz.2_Silent_p.S545S	53	GBM-06-0221-TP	p.S545S	C	TGTTTCCCAGCCGACGGTCCC	NM_001029884	NP_001025055	151151882	Q9ULL1	PKHG1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	16	1947	+	T	T			Silent	545						
PLEKHG2	0	broad.mit.edu	GRCh37	19	39908257	39908257	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-19-2623-01	TCGA-19-2623-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000425673.1:c.807T>C	p.Ala269=	p.A269=	ENST00000425673		269	gcT/gcC	0			1			C	A	uc010xuz.1	protein_coding					807/4074									skin(2)|pancreas(1)|breast(1)	4	c.(805-807)GCT>GCC			Gene3D:1.20.900.10,Pfam_domain:PF00621,PROSITE_profiles:PS50010,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF111,SMART_domains:SM00325,Superfamily_domains:SSF48065	common-site lymphoma/leukemia guanine nucleotide				ENSP00000392906		17-Aug									COSM3404216,COSM3404215,COSM3404217	17-Aug	.		ENST00000425673	Transcript			apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	ENSG00000090924	g.chr19:39908257T>C	29515			LOW								--	--	1																																		PLEKHG2_uc010xuy.1_Silent_p.A210A|PLEKHG2_uc002olj.2_Silent_p.A269A|PLEKHG2_uc010xva.1_Silent_p.A76A	1,1,1				p.A269A	NM_022835	NP_073746			1,1,1	PKHG2_HUMAN	PLEKHG2	HGNC	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)				8	1132	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		UPI0001AE644F	269			DH.		SNV	PLEKHG2,synonymous_variant,p.=,ENST00000425673,;PLEKHG2,synonymous_variant,p.=,ENST00000409794,NM_022835.2;PLEKHG2,synonymous_variant,p.=,ENST00000205135,;PLEKHG2,synonymous_variant,p.=,ENST00000458508,;PLEKHG2,synonymous_variant,p.=,ENST00000409797,;PLEKHG2,synonymous_variant,p.=,ENST00000378550,;PLEKHG2,downstream_gene_variant,,ENST00000451354,;PLEKHG2,upstream_gene_variant,,ENST00000596443,;PLEKHG2,downstream_gene_variant,,ENST00000438123,;PLEKHG2,downstream_gene_variant,,ENST00000595920,;PLEKHG2,upstream_gene_variant,,ENST00000474449,;PLEKHG2,upstream_gene_variant,,ENST00000478523,;PLEKHG2,upstream_gene_variant,,ENST00000594307,;	uc010xuz.1	c.807T>C	1132/7519	3	3			c.807T>C						19	SNP	c.(805-807)GCT>GCC	56	56			skin(2)|pancreas(1)|breast(1)	4	Broad	common-site lymphoma/leukemia guanine nucleotide			39908257		0.602	ENSG00000090924	11871	g.chr19:39908257T>C	apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity							-7.132913	KEEP	2	2	-1	47	27	2	2	-1	7.992824	47	27	0.044118	1	0	0	0	0	0	0	1	0	--	--		0	C			PLEKHG2_uc010xuy.1_Silent_p.A210A|PLEKHG2_uc002olj.2_Silent_p.A269A|PLEKHG2_uc010xva.1_Silent_p.A76A	163	GBM-19-2623-TP	p.A269A	T	TGGAGGAAGCTATTGTGTCCA	NM_022835	NP_073746	39908257	Q9H7P9	PKHG2_HUMAN	0	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		8	1132	+	C	C	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Silent	269			DH.			
PLEKHG2	0	broad.mit.edu	GRCh37	19	39913972	39913972	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2624-01	TCGA-19-2624-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000425673.1:c.2191G>A	p.Ala731Thr	p.A731T	ENST00000425673		731	Gca/Aca	0			1			A	A/T	uc010xuz.1	protein_coding					2191/4074									skin(2)|pancreas(1)|breast(1)	4	c.(2278-2280)GCA>ACA			hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF111	common-site lymphoma/leukemia guanine nucleotide				ENSP00000392906		16/17									COSM2156198,COSM2156197,COSM2156199	16/17	.		ENST00000425673	Transcript			apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	ENSG00000090924	g.chr19:39913972G>A	29515			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=PKHG2_HUMAN&rb=683&re=868&var=A760T	NA	getma.org/?cm=var&var=hg19,19,39913972,G,A&fts=all	A760T	--	--	1																																		PLEKHG2_uc010xuy.1_Missense_Mutation_p.A701T|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.A538T	1,1,1			benign(0.204)	p.A760T	NM_022835	NP_073746		deleterious_low_confidence(0.01)	1,1,1	PKHG2_HUMAN	PLEKHG2	HGNC	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)				18	2603	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		UPI0001AE644F	760					SNV	PLEKHG2,missense_variant,p.Ala731Thr,ENST00000425673,;PLEKHG2,missense_variant,p.Ala760Thr,ENST00000409794,NM_022835.2;PLEKHG2,missense_variant,p.Ala628Thr,ENST00000205135,;PLEKHG2,missense_variant,p.Ala701Thr,ENST00000458508,;PLEKHG2,intron_variant,,ENST00000409797,;PLEKHG2,intron_variant,,ENST00000378550,;PLEKHG2,intron_variant,,ENST00000596443,;PLEKHG2,upstream_gene_variant,,ENST00000596339,;PLEKHG2,upstream_gene_variant,,ENST00000600210,;PLEKHG2,upstream_gene_variant,,ENST00000598238,;PLEKHG2,upstream_gene_variant,,ENST00000594124,;PLEKHG2,upstream_gene_variant,,ENST00000594161,;CTB-60E11.4,upstream_gene_variant,,ENST00000601124,;PLEKHG2,downstream_gene_variant,,ENST00000474449,;PLEKHG2,downstream_gene_variant,,ENST00000478523,;PLEKHG2,downstream_gene_variant,,ENST00000594307,;	uc010xuz.1	c.2278G>A	2516/7519	1	1			c.2278G>A						19	SNP	c.(2278-2280)GCA>ACA	52	52			skin(2)|pancreas(1)|breast(1)	4	Broad	common-site lymphoma/leukemia guanine nucleotide			39913972		0.597	ENSG00000090924	11871	g.chr19:39913972G>A	apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity							68.389904	KEEP	12	13	-1	12	17	12	13	-1	68.493033	12	17	0.45283	1	0	0	0	0	1	0	0	0	--	--		0	A			PLEKHG2_uc010xuy.1_Missense_Mutation_p.A701T|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.A538T	164	GBM-19-2624-TP	p.A760T	G	AGATGAGCTGGCATTCCGCTC	NM_022835	NP_073746	39913972	Q9H7P9	PKHG2_HUMAN	0	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		18	2603	+	A	A	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Missense_Mutation	760						
PLEKHG2	0	broad.mit.edu	GRCh37	19	39915859	39915859	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-26-5133-01	TCGA-26-5133-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000425673.1:c.3999T>G	p.Ala1333=	p.A1333=	ENST00000425673		1333	gcT/gcG	0			1			G	A	uc010xuz.1	protein_coding					3999/4074									skin(2)|pancreas(1)|breast(1)	4	c.(4084-4086)GCT>GCG				common-site lymphoma/leukemia guanine nucleotide				ENSP00000392906		17/17									COSM3404222,COSM3404221	17/17	.		ENST00000425673	Transcript			apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	ENSG00000090924	g.chr19:39915859T>G	29515			LOW								--	--	1																																		PLEKHG2_uc010xuy.1_Intron|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Silent_p.A1140A	1,1				p.A1362A	NM_022835	NP_073746			1,1	PKHG2_HUMAN	PLEKHG2	HGNC	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)				19	4411	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		UPI0001AE644F	1362					SNV	PLEKHG2,synonymous_variant,p.=,ENST00000425673,;PLEKHG2,synonymous_variant,p.=,ENST00000409794,NM_022835.2;PLEKHG2,synonymous_variant,p.=,ENST00000205135,;PLEKHG2,intron_variant,,ENST00000458508,;PLEKHG2,intron_variant,,ENST00000409797,;PLEKHG2,intron_variant,,ENST00000378550,;PLEKHG2,intron_variant,,ENST00000596339,;PLEKHG2,intron_variant,,ENST00000600210,;PLEKHG2,intron_variant,,ENST00000596443,;PLEKHG2,intron_variant,,ENST00000598238,;PLEKHG2,intron_variant,,ENST00000594124,;PLEKHG2,intron_variant,,ENST00000594161,;CTB-60E11.4,upstream_gene_variant,,ENST00000601124,;PLEKHG2,downstream_gene_variant,,ENST00000474449,;PLEKHG2,downstream_gene_variant,,ENST00000478523,;PLEKHG2,downstream_gene_variant,,ENST00000594307,;	uc010xuz.1	c.4086T>G	4324/7519	3	3			c.4086T>G						19	SNP	c.(4084-4086)GCT>GCG	7	7			skin(2)|pancreas(1)|breast(1)	4	Broad	common-site lymphoma/leukemia guanine nucleotide			39915859		0.652	ENSG00000090924	11871	g.chr19:39915859T>G	apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity							6.177724	KEEP	7	4	-1	48	52	7	4	-1	22.928276	48	52	0.097087	1	0	0	0	0	0	0	1	0	--	--		0	G			PLEKHG2_uc010xuy.1_Intron|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Silent_p.A1140A	182	GBM-26-5133-TP	p.A1362A	T	ACCACCCTGCTCTCTTGGCCT	NM_022835	NP_073746	39915859	Q9H7P9	PKHG2_HUMAN	0	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		19	4411	+	G	G	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Silent	1362						
PLEKHG3	26030	broad.mit.edu	GRCh37	14	65208866	65208866	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000247226.7:c.2463G>A	p.Pro821=	p.P821=	ENST00000247226	NM_015549.1	821	ccG/ccA	0			1			A	P	uc001xho.1	protein_coding					2631/3660									skin(1)	1	c.(2629-2631)CCG>CCA			hmmpanther:PTHR22143,hmmpanther:PTHR22143:SF4	pleckstrin homology domain containing, family G,				ENSP00000378183		16/17	2.47E-05		8.76E-05	0.000118		1.58E-05			rs745722450,COSM3401409	16/17	.		ENST00000394691	Transcript			regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	ENSG00000126822	g.chr14:65208866G>A	20364			LOW								--	--	1																																		PLEKHG3_uc001xhn.1_Silent_p.P821P|PLEKHG3_uc001xhp.2_Silent_p.P998P|PLEKHG3_uc010aqh.1_Silent_p.P419P|PLEKHG3_uc001xhq.1_Silent_p.P382P	0,1				p.P877P	NM_015549	NP_056364			0,1	PKHG3_HUMAN	PLEKHG3	HGNC	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	G3V3I3_HUMAN,G3V311_HUMAN,G3V278_HUMAN		16	2900	+			UPI0000ECF248	877					SNV	PLEKHG3,synonymous_variant,p.=,ENST00000247226,NM_015549.1;PLEKHG3,synonymous_variant,p.=,ENST00000394691,;PLEKHG3,synonymous_variant,p.=,ENST00000471182,;PLEKHG3,synonymous_variant,p.=,ENST00000484731,;SPTB,downstream_gene_variant,,ENST00000389722,NM_001024858.2;PLEKHG3,intron_variant,,ENST00000492928,;PLEKHG3,non_coding_transcript_exon_variant,,ENST00000490180,;	uc001xho.1	c.2631G>A	2778/4396	2	2			c.2631G>A						14	SNP	c.(2629-2631)CCG>CCA	29	29			skin(1)	1	Broad	pleckstrin homology domain containing, family G,			65208866		0.667	ENSG00000126822	11872	g.chr14:65208866G>A	regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity							201.764316	KEEP	27	36	-1	9	14	27	36	-1	205.855659	9	14	0.7375	1	0	0	0	0	0	0	1	0	--	--		0	A			PLEKHG3_uc001xhn.1_Silent_p.P821P|PLEKHG3_uc001xhp.2_Silent_p.P998P|PLEKHG3_uc010aqh.1_Silent_p.P419P|PLEKHG3_uc001xhq.1_Silent_p.P382P	102	GBM-06-5858-TP	p.P877P	G	GGCGCAGCCCGGCCCACCTGG	NM_015549	NP_056364	65208866	A1L390	PKHG3_HUMAN	0		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	16	2900	+	A	A			Silent	877						
PLEKHG4B	153478	broad.mit.edu	GRCh37	5	163558	163558	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs148435989		TCGA-02-0055-01	TCGA-02-0055-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283426.6:c.2303C>T	p.Pro768Leu	p.P768L	ENST00000283426	NM_052909.3	768	cCg/cTg	0	T:0.0005		1			T	P/L	uc003jak.2	protein_coding	YES	CCDS34124.1			2303/3816									skin(2)	2	c.(2302-2304)CCG>CTG			hmmpanther:PTHR22826:SF119,hmmpanther:PTHR22826	pleckstrin homology domain containing, family G			T:0	ENSP00000283426		18-Nov	3.30E-05	0.000102				3.11E-05		6.06E-05	rs148435989,COSM2149050	18-Nov	.		ENST00000283426	Transcript			regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	ENSG00000153404	g.chr5:163558C>T	29399			MODERATE		0.205	neutral	getma.org/?cm=msa&ty=f&p=PKH4B_HUMAN&rb=601&re=800&var=P768L	NA	getma.org/?cm=var&var=hg19,5,163558,C,T&fts=all	P768L	--	--	1																																			0,1	1		benign(0.001)	p.P768L	NM_052909	NP_443141		tolerated(0.23)	0,1	PKH4B_HUMAN	PLEKHG4B	HGNC	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)			11	2353	+			UPI0000D615EE	768					SNV	PLEKHG4B,missense_variant,p.Pro768Leu,ENST00000283426,NM_052909.3;	uc003jak.2	c.2303C>T	2353/11513	1	1			c.2303C>T						5	SNP	c.(2302-2304)CCG>CTG	6	6			skin(2)	2	Broad	pleckstrin homology domain containing, family G			163558		0.652	ENSG00000153404	11874	g.chr5:163558C>T	regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity							55.681469	KEEP	25	28	-1	64	74	25	28	-1	57.545806	64	74	0.31746	1	0	0	0	0	1	0	0	0	--	--		0	T				4	GBM-02-0055-TP	p.P768L	C	AAGAAGCTCCCGCTGTGGCAG	NM_052909	NP_443141	163558	Q96PX9	PKH4B_HUMAN	0	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	11	2353	+	T	T			Missense_Mutation	768						
PLEKHG4B	153478	broad.mit.edu	GRCh37	5	161944	161944	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283426.6:c.1466G>A	p.Arg489His	p.R489H	ENST00000283426	NM_052909.3	489	cGt/cAt	0		A:0	1	A:0		A	R/H	uc003jak.2	protein_coding	YES	CCDS34124.1			1466/3816									skin(2)	2	c.(1465-1467)CGT>CAT			hmmpanther:PTHR22826:SF119,hmmpanther:PTHR22826	pleckstrin homology domain containing, family G		A:0		ENSP00000283426	A:0	18-Oct	1.65E-05					1.51E-05		6.06E-05	rs529537081,COSM1065357	18-Oct	.		ENST00000283426	Transcript		A:0.0002	regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	ENSG00000153404	g.chr5:161944G>A	29399			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=PKH4B_HUMAN&rb=401&re=600&var=R489H	NA	getma.org/?cm=var&var=hg19,5,161944,G,A&fts=all	R489H	--	--	1																																			0,1	1		benign(0.001)	p.R489H	NM_052909	NP_443141	A:0.001	tolerated(0.15)	0,1	PKH4B_HUMAN	PLEKHG4B	HGNC	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)			10	1516	+			UPI0000D615EE	489					SNV	PLEKHG4B,missense_variant,p.Arg489His,ENST00000283426,NM_052909.3;PLEKHG4B,downstream_gene_variant,,ENST00000502646,;	uc003jak.2	c.1466G>A	1516/11513	2	2			c.1466G>A						5	SNP	c.(1465-1467)CGT>CAT	41	41			skin(2)	2	Broad	pleckstrin homology domain containing, family G			161944		0.592	ENSG00000153404	11874	g.chr5:161944G>A	regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity							73.355215	KEEP	19	10	-1	27	24	19	10	-1	74.61365	27	24	0.357143	1	0	0	0	0	1	0	0	0	--	--		0	A				12	GBM-06-0125-TP	p.R489H	G	AACCCGCAACGTACAGAGGAA	NM_052909	NP_443141	161944	Q96PX9	PKH4B_HUMAN	0	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	10	1516	+	A	A			Missense_Mutation	489						
PLEKHG4B	153478	broad.mit.edu	GRCh37	5	182428	182428	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs111247576	byFrequency	TCGA-06-0237-01	TCGA-06-0237-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283426.6:c.3806G>A	p.Arg1269His	p.R1269H	ENST00000283426	NM_052909.3	1269	cGc/cAc	0	A:0.007	A:0.0023	1	A:0		A	R/H	uc003jak.2	protein_coding	YES	CCDS34124.1			3806/3816									skin(2)	2	c.(3805-3807)CGC>CAC				pleckstrin homology domain containing, family G		A:0	A:0	ENSP00000283426	A:0	18/18	0.000479	0.00935	0.000696	0.000458		2.84E-05		8.66E-05	rs111247576,COSM2151059	18/18	common_variant		ENST00000283426	Transcript		A:0.0006	regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	ENSG00000153404	g.chr5:182428G>A	29399			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=PKH4B_HUMAN&rb=1171&re=1271&var=R1269H	NA	getma.org/?cm=var&var=hg19,5,182428,G,A&fts=all	R1269H	--	--	1																																			0,1	1		benign(0)	p.R1269H	NM_052909	NP_443141	A:0	tolerated_low_confidence(0.44)	0,1	PKH4B_HUMAN	PLEKHG4B	HGNC	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)			18	3856	+			UPI0000D615EE	1269					SNV	PLEKHG4B,missense_variant,p.Arg1269His,ENST00000283426,NM_052909.3;PLEKHG4B,non_coding_transcript_exon_variant,,ENST00000504041,;	uc003jak.2	c.3806G>A	3856/11513	1	1			c.3806G>A						5	SNP	c.(3805-3807)CGC>CAC	64	64			skin(2)	2	Broad	pleckstrin homology domain containing, family G			182428		0.632	ENSG00000153404	11874	g.chr5:182428G>A	regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity							23.059836	KEEP	1	8	-1	13	10	1	8	-1	24.437032	13	10	0.28125	1	0	0	0	0	1	0	0	0	--	--		0	A				54	GBM-06-0237-TP	p.R1269H	G	AGCCGCACACGCCAGGCCTGA	NM_052909	NP_443141	182428	Q96PX9	PKH4B_HUMAN	0	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	18	3856	+	A	A			Missense_Mutation	1269						
PLEKHG4B	153478	broad.mit.edu	GRCh37	5	143328	143328	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0876-01	TCGA-06-0876-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283426.6:c.576C>T	p.Asp192=	p.D192=	ENST00000283426	NM_052909.3	192	gaC/gaT	0		T:0	1	T:0		T	D	uc003jak.2	protein_coding	YES	CCDS34124.1			576/3816									skin(2)	2	c.(574-576)GAC>GAT			hmmpanther:PTHR22826:SF119,hmmpanther:PTHR22826	pleckstrin homology domain containing, family G		T:0.002		ENSP00000283426	T:0	18-Feb									rs571906695,COSM2152070	18-Feb	.		ENST00000283426	Transcript		T:0.0004	regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	ENSG00000153404	g.chr5:143328C>T	29399			LOW								--	--	1																																			0,1	1			p.D192D	NM_052909	NP_443141	T:0		0,1	PKH4B_HUMAN	PLEKHG4B	HGNC	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)			2	626	+			UPI0000D615EE	192					SNV	PLEKHG4B,synonymous_variant,p.=,ENST00000283426,NM_052909.3;PLEKHG4B,synonymous_variant,p.=,ENST00000502646,;CTD-2231H16.1,downstream_gene_variant,,ENST00000512035,;Y_RNA,downstream_gene_variant,,ENST00000362670,;	uc003jak.2	c.576C>T	626/11513	2	2			c.576C>T						5	SNP	c.(574-576)GAC>GAT	22	22			skin(2)	2	Broad	pleckstrin homology domain containing, family G			143328		0.662	ENSG00000153404	11874	g.chr5:143328C>T	regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity							103.658587	KEEP	21	26	-1	55	61	21	26	-1	109.730655	55	61	0.28169	1	0	0	0	0	0	0	1	0	--	--		0	T				72	GBM-06-0876-TP	p.D192D	C	AGGTGCTGGACGTCAGTCAGG	NM_052909	NP_443141	143328	Q96PX9	PKH4B_HUMAN	0	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	2	626	+	T	T			Silent	192						
PLEKHG4B	0	broad.mit.edu	GRCh37	5	163559	163559	+	synonymous_variant	Silent	SNP	G	G	A	rs114260538	byFrequency;by1000genomes	TCGA-19-4068-01	TCGA-19-4068-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283426.6:c.2304G>A	p.Pro768=	p.P768=	ENST00000283426	NM_052909.3	768	ccG/ccA	0	A:0	A:0	1	A:0.0029		A	P	uc003jak.2	protein_coding	YES	CCDS34124.1			2304/3816									skin(2)	2	c.(2302-2304)CCG>CCA			hmmpanther:PTHR22826:SF119,hmmpanther:PTHR22826	pleckstrin homology domain containing, family G		A:0.001	A:0.0001	ENSP00000283426	A:0	18-Nov	0.00033	0.000102	0.000174			0.00053		0.000182	rs114260538,COSM2156476	18-Nov	common_variant		ENST00000283426	Transcript		A:0.0008	regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	ENSG00000153404	g.chr5:163559G>A	29399			LOW								--	--	1																																			0,1	1			p.P768P	NM_052909	NP_443141	A:0.001		0,1	PKH4B_HUMAN	PLEKHG4B	HGNC	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)			11	2354	+			UPI0000D615EE	768					SNV	PLEKHG4B,synonymous_variant,p.=,ENST00000283426,NM_052909.3;	uc003jak.2	c.2304G>A	2354/11513	2	2			c.2304G>A						5	SNP	c.(2302-2304)CCG>CCA	17	17			skin(2)	2	Broad	pleckstrin homology domain containing, family G			163559		0.652	ENSG00000153404	11874	g.chr5:163559G>A	regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity							73.802121	KEEP	37	29	-1	58	47	37	29	-1	74.791624	58	47	0.375	1	0	0	0	0	0	0	1	0	--	--		0	A				168	GBM-19-4068-TP	p.P768P	G	AGAAGCTCCCGCTGTGGCAGC	NM_052909	NP_443141	163559	Q96PX9	PKH4B_HUMAN	0	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	11	2354	+	A	A			Silent	768						
PLEKHG4B	0	broad.mit.edu	GRCh37	5	161999	161999	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-28-6450-01	TCGA-28-6450-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283426.6:c.1521G>T	p.Gln507His	p.Q507H	ENST00000283426	NM_052909.3	507	caG/caT	0			1			T	Q/H	uc003jak.2	protein_coding	YES	CCDS34124.1			1521/3816									skin(2)	2	c.(1519-1521)CAG>CAT			hmmpanther:PTHR22826:SF119,hmmpanther:PTHR22826	pleckstrin homology domain containing, family G				ENSP00000283426		18-Oct									COSM3410088	18-Oct	.		ENST00000283426	Transcript			regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	ENSG00000153404	g.chr5:161999G>T	29399			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=PKH4B_HUMAN&rb=401&re=600&var=Q507H	NA	getma.org/?cm=var&var=hg19,5,161999,G,T&fts=all	Q507H	--	--	1																																			1	1		benign(0.438)	p.Q507H	NM_052909	NP_443141		tolerated(0.25)	1	PKH4B_HUMAN	PLEKHG4B	HGNC	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)			10	1571	+			UPI0000D615EE	507					SNV	PLEKHG4B,missense_variant,p.Gln507His,ENST00000283426,NM_052909.3;PLEKHG4B,downstream_gene_variant,,ENST00000502646,;	uc003jak.2	c.1521G>T	1571/11513	2	2			c.1521G>T						5	SNP	c.(1519-1521)CAG>CAT	35	35			skin(2)	2	Broad	pleckstrin homology domain containing, family G			161999		0.627	ENSG00000153404	11874	g.chr5:161999G>T	regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity							38.4655	KEEP	10	4	0.714285714	14	8	10	4	0.714285714	38.878698	14	8	0.382353	1	0	0	0	0	1	0	0	0	--	--		0	T				227	GBM-28-6450-TP	p.Q507H	G	TGGTCAGCCAGGCTGAGTGCA	NM_052909	NP_443141	161999	Q96PX9	PKH4B_HUMAN	0	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	10	1571	+	T	T			Missense_Mutation	507						
PLEKHG4B	0	broad.mit.edu	GRCh37	5	140833	140833	+	splice_donor_variant	Splice_Site	SNP	T	T	G			TCGA-32-4210-01	TCGA-32-4210-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283426.6:c.409+2T>G		p.X137_splice	ENST00000283426	NM_052909.3			0			1			G		uc003jak.2	protein_coding	YES	CCDS34124.1			409/3816									skin(2)	2	c.e1+2				pleckstrin homology domain containing, family G				ENSP00000283426											COSM3748290		.		ENST00000283426	Transcript			regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	ENSG00000153404	g.chr5:140833T>G	29399			HIGH	17-Jan							--	--	1																																			1	1			p.D137_splice	NM_052909	NP_443141			1	PKH4B_HUMAN	PLEKHG4B	HGNC	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)			1	459	+			UPI0000D615EE						SNV	PLEKHG4B,splice_donor_variant,,ENST00000283426,NM_052909.3;PLEKHG4B,splice_donor_variant,,ENST00000502646,;CTD-2231H16.1,downstream_gene_variant,,ENST00000512035,;Y_RNA,downstream_gene_variant,,ENST00000362670,;	uc003jak.2	c.409_splice	-/11513	5	3			c.409_splice						5	SNP	c.e1+2	63	63			skin(2)	2	Broad	pleckstrin homology domain containing, family G			140833		0.552	ENSG00000153404	11874	g.chr5:140833T>G	regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity							31.335167	KEEP	5	7	-1	16	18	5	7	-1	33.781425	16	18	0.243902	1	0	0	0	0	0	0	0	1	--	--		0	G				245	GBM-32-4210-TP	p.D137_splice	T	AAGAGGAAGGTAAATGCTCCC	NM_052909	NP_443141	140833	Q96PX9	PKH4B_HUMAN	0	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	1	459	+	G	G			Splice_Site							
PLEKHG4B	0	broad.mit.edu	GRCh37	5	163559	163559	+	synonymous_variant	Silent	SNP	G	G	A	rs114260538	byFrequency;by1000genomes	TCGA-76-4927-01	TCGA-76-4927-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283426.6:c.2304G>A	p.Pro768=	p.P768=	ENST00000283426	NM_052909.3	768	ccG/ccA	0	A:0	A:0	1	A:0.0029		A	P	uc003jak.2	protein_coding	YES	CCDS34124.1			2304/3816									skin(2)	2	c.(2302-2304)CCG>CCA			hmmpanther:PTHR22826:SF119,hmmpanther:PTHR22826	pleckstrin homology domain containing, family G		A:0.001	A:0.0001	ENSP00000283426	A:0	18-Nov	0.00033	0.000102	0.000174			0.00053		0.000182	rs114260538,COSM2156476	18-Nov	common_variant		ENST00000283426	Transcript		A:0.0008	regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	ENSG00000153404	g.chr5:163559G>A	29399			LOW								--	--	1																																			0,1	1			p.P768P	NM_052909	NP_443141	A:0.001		0,1	PKH4B_HUMAN	PLEKHG4B	HGNC	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)			11	2354	+			UPI0000D615EE	768					SNV	PLEKHG4B,synonymous_variant,p.=,ENST00000283426,NM_052909.3;	uc003jak.2	c.2304G>A	2354/11513	2	2			c.2304G>A						5	SNP	c.(2302-2304)CCG>CCA	17	17			skin(2)	2	Broad	pleckstrin homology domain containing, family G			163559		0.652	ENSG00000153404	11874	g.chr5:163559G>A	regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity							53.115095	KEEP	30	30	-1	67	51	30	30	-1	55.133514	67	51	0.318841	1	0	0	0	0	0	0	1	0	--	--		0	A				267	GBM-76-4927-TP	p.P768P	G	AGAAGCTCCCGCTGTGGCAGC	NM_052909	NP_443141	163559	Q96PX9	PKH4B_HUMAN	0	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	11	2354	+	A	A			Silent	768						
PLEKHG4B	0	broad.mit.edu	GRCh37	5	163619	163619	+	synonymous_variant	Silent	SNP	G	G	A	rs114939243	byFrequency;by1000genomes	TCGA-76-4927-01	TCGA-76-4927-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283426.6:c.2364G>A	p.Ser788=	p.S788=	ENST00000283426	NM_052909.3	788	tcG/tcA	0	A:0.0014	A:0	1	A:0.0029		A	S	uc003jak.2	protein_coding	YES	CCDS34124.1			2364/3816									skin(2)	2	c.(2362-2364)TCG>TCA			hmmpanther:PTHR22826:SF119,hmmpanther:PTHR22826	pleckstrin homology domain containing, family G		A:0	A:0.007	ENSP00000283426	A:0.007	18-Nov	0.00493	0.0014	0.00432	0.00104	0.00823	0.0087	0.004	0.000411	rs114939243,COSM1262495	18-Nov	common_variant		ENST00000283426	Transcript		A:0.0018	regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	ENSG00000153404	g.chr5:163619G>A	29399			LOW								--	--	1																																			0,1	1			p.S788S	NM_052909	NP_443141	A:0		0,1	PKH4B_HUMAN	PLEKHG4B	HGNC	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)			11	2414	+			UPI0000D615EE	788					SNV	PLEKHG4B,synonymous_variant,p.=,ENST00000283426,NM_052909.3;	uc003jak.2	c.2364G>A	2414/11513	1	1			c.2364G>A						5	SNP	c.(2362-2364)TCG>TCA	54	54			skin(2)	2	Broad	pleckstrin homology domain containing, family G			163619		0.647	ENSG00000153404	11874	g.chr5:163619G>A	regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity							34.349338	KEEP	6	9	-1	26	16	6	9	-1	37.303934	26	16	0.25	1	0	0	0	0	0	0	1	0	--	--		0	A				267	GBM-76-4927-TP	p.S788S	G	CCTCCCCCTCGGGGCTCCACC	NM_052909	NP_443141	163619	Q96PX9	PKH4B_HUMAN	0	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	11	2414	+	A	A			Silent	788						
PLEKHG4B	0	broad.mit.edu	GRCh37	5	181778	181778	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs114040866	by1000genomes	TCGA-76-4929-01	TCGA-76-4929-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283426.6:c.3484G>A	p.Val1162Ile	p.V1162I	ENST00000283426	NM_052909.3	1162	Gtc/Atc	0			1			A	V/I	uc003jak.2	protein_coding	YES	CCDS34124.1			3484/3816									skin(2)	2	c.(3484-3486)GTC>ATC			hmmpanther:PTHR22826:SF119,hmmpanther:PTHR22826	pleckstrin homology domain containing, family G				ENSP00000283426		17/18	0.000165			0.000579				0.000951	rs114040866,COSM3410203	17/18	common_variant		ENST00000283426	Transcript			regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	ENSG00000153404	g.chr5:181778G>A	29399			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=PKH4B_HUMAN&rb=971&re=1170&var=V1162I	NA	getma.org/?cm=var&var=hg19,5,181778,G,A&fts=all	V1162I	--	--	1																																			0,1	1		benign(0.001)	p.V1162I	NM_052909	NP_443141		tolerated(0.07)	0,1	PKH4B_HUMAN	PLEKHG4B	HGNC	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)			17	3534	+			UPI0000D615EE	1162					SNV	PLEKHG4B,missense_variant,p.Val1162Ile,ENST00000283426,NM_052909.3;PLEKHG4B,non_coding_transcript_exon_variant,,ENST00000504041,;	uc003jak.2	c.3484G>A	3534/11513	2	2			c.3484G>A						5	SNP	c.(3484-3486)GTC>ATC	20	20			skin(2)	2	Broad	pleckstrin homology domain containing, family G			181778		0.637	ENSG00000153404	11874	g.chr5:181778G>A	regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity							36.93358	KEEP	13	7	-1	55	64	13	7	-1	50.235204	55	64	0.162602	1	0	0	0	0	1	0	0	0	--	--		0	A				269	GBM-76-4929-TP	p.V1162I	G	CGACAGCATCGTCAAGGGCAC	NM_052909	NP_443141	181778	Q96PX9	PKH4B_HUMAN	0	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	17	3534	+	A	A			Missense_Mutation	1162						
PLEKHG4B	153478		GRCh37	5	162950	162950	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000283426.6:c.1695C>T	p.Pro565=	p.P565=	ENST00000283426	NM_052909.3	565	ccC/ccT	0																																																																																																																																																																																																																																												
PLEKHG5	57449	broad.mit.edu	GRCh37	1	6537601	6537601	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-5415-01	TCGA-06-5415-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000537245.1:c.268C>G	p.Leu90Val	p.L90V	ENST00000537245	NM_001265592.1	90	Ctt/Gtt	0			1			C	L/V	uc001ano.1	protein_coding		CCDS41241.1			199/3189									liver(1)	1	c.(199-201)CTT>GTT			hmmpanther:PTHR13217,hmmpanther:PTHR13217:SF6	pleckstrin homology domain containing family G				ENSP00000383706		22-Mar									COSM2153231	22-Mar	.		ENST00000400915	Transcript	1		apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	ENSG00000171680	g.chr1:6537601G>C	29105			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=PKHG5_HUMAN&rb=1&re=200&var=L67V	NA	getma.org/?cm=var&var=hg19,1,6537601,G,C&fts=all	L67V	--	--	1																																		PLEKHG5_uc001ann.1_Missense_Mutation_p.L48V|PLEKHG5_uc001anq.1_Missense_Mutation_p.L88V|PLEKHG5_uc001anp.1_Missense_Mutation_p.L88V|PLEKHG5_uc009vma.1_5'UTR|PLEKHG5_uc010nzr.1_Missense_Mutation_p.L80V|PLEKHG5_uc001ank.1_Missense_Mutation_p.L11V|PLEKHG5_uc009vmb.1_Missense_Mutation_p.L11V|PLEKHG5_uc001anl.1_Missense_Mutation_p.L11V|PLEKHG5_uc001anm.1_Missense_Mutation_p.L11V	1			benign(0.053)	p.L67V	NM_001042663	NP_001036128		deleterious(0.03)	1	PKHG5_HUMAN	PLEKHG5	HGNC	O94827	PKHG5_HUMAN		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)	B3KR92_HUMAN		3	300	-	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	UPI0000470BB3	67					SNV	PLEKHG5,missense_variant,p.Leu88Val,ENST00000377748,NM_198681.3;PLEKHG5,missense_variant,p.Leu11Val,ENST00000340850,NM_001265594.1,NM_001042664.1;PLEKHG5,missense_variant,p.Leu11Val,ENST00000400913,NM_001042665.1;PLEKHG5,missense_variant,p.Leu11Val,ENST00000377737,;PLEKHG5,missense_variant,p.Leu48Val,ENST00000377732,;PLEKHG5,missense_variant,p.Leu67Val,ENST00000400915,NM_001042663.1;PLEKHG5,missense_variant,p.Leu80Val,ENST00000535355,NM_001265593.1;PLEKHG5,missense_variant,p.Leu11Val,ENST00000377728,NM_020631.4;PLEKHG5,missense_variant,p.Leu88Val,ENST00000377740,;PLEKHG5,missense_variant,p.Leu11Val,ENST00000377725,;PLEKHG5,missense_variant,p.Leu90Val,ENST00000537245,NM_001265592.1;PLEKHG5,missense_variant,p.Leu11Val,ENST00000544978,;PLEKHG5,non_coding_transcript_exon_variant,,ENST00000489097,;	uc001ano.1	c.199C>G	266/3697	3	3			c.199C>G						1	SNP	c.(199-201)CTT>GTT	7	7			liver(1)	1	Broad	pleckstrin homology domain containing family G			6537601		0.537	ENSG00000171680	11875	g.chr1:6537601G>C	apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity							97.714053	KEEP	18	29	-1	38	51	18	29	-1	100.607044	38	51	0.32381	1	0	0	0	0	1	0	0	0	--	--		0	C			PLEKHG5_uc001ann.1_Missense_Mutation_p.L48V|PLEKHG5_uc001anq.1_Missense_Mutation_p.L88V|PLEKHG5_uc001anp.1_Missense_Mutation_p.L88V|PLEKHG5_uc009vma.1_5'UTR|PLEKHG5_uc010nzr.1_Missense_Mutation_p.L80V|PLEKHG5_uc001ank.1_Missense_Mutation_p.L11V|PLEKHG5_uc009vmb.1_Missense_Mutation_p.L11V|PLEKHG5_uc001anl.1_Missense_Mutation_p.L11V|PLEKHG5_uc001anm.1_Missense_Mutation_p.L11V	98	GBM-06-5415-TP	p.L67V	G	TGTGGGGGAAGGTCGAAGCGG	NM_001042663	NP_001036128	6537601	O94827	PKHG5_HUMAN	0		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)	3	300	-	C	C	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	Missense_Mutation	67						
PLEKHG6	55200	broad.mit.edu	GRCh37	12	6424277	6424277	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5417-01	TCGA-06-5417-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396988.3:c.401G>A	p.Gly134Asp	p.G134D	ENST00000396988	NM_001144856.1	134	gGt/gAt	0			1			A	G/D	uc001qnr.2	protein_coding		CCDS8541.1			401/2373									large_intestine(1)|skin(1)	2	c.(400-402)GGT>GAT			hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF13	pleckstrin homology domain-containing family G				ENSP00000011684		16-Apr									COSM2153274	16-Apr	.		ENST00000011684	Transcript			regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	ENSG00000008323	g.chr12:6424277G>A	25562			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=PKHG6_HUMAN&rb=130&re=164&var=G134D	NA	getma.org/?cm=var&var=hg19,12,6424277,G,A&fts=all	G134D	--	--	1																																		PLEKHG6_uc001qns.2_Missense_Mutation_p.G134D|PLEKHG6_uc010sew.1_Missense_Mutation_p.G134D|PLEKHG6_uc010sex.1_Missense_Mutation_p.G102D	1			benign(0.009)	p.G134D	NM_018173	NP_060643		tolerated(0.24)	1	PKHG6_HUMAN	PLEKHG6	HGNC	Q3KR16	PKHG6_HUMAN					4	549	+			UPI000013EFF6	134					SNV	PLEKHG6,missense_variant,p.Gly102Asp,ENST00000449001,NM_001144857.1;PLEKHG6,missense_variant,p.Gly134Asp,ENST00000396988,NM_001144856.1;PLEKHG6,missense_variant,p.Gly134Asp,ENST00000011684,NM_018173.3;PLEKHG6,missense_variant,p.Gly134Asp,ENST00000536531,;PLEKHG6,upstream_gene_variant,,ENST00000304581,;PLEKHG6,downstream_gene_variant,,ENST00000538208,;PLEKHG6,upstream_gene_variant,,ENST00000535616,;PLEKHG6,upstream_gene_variant,,ENST00000543000,;PLEKHG6,upstream_gene_variant,,ENST00000544743,;	uc001qnr.2	c.401G>A	549/2881	2	2			c.401G>A						12	SNP	c.(400-402)GGT>GAT	29	29			large_intestine(1)|skin(1)	2	Broad	pleckstrin homology domain-containing family G			6424277		0.632	ENSG00000008323	11876	g.chr12:6424277G>A	regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity							141.631224	KEEP	25	28	-1	5	9	25	28	-1	145.719106	5	9	0.770492	1	0	0	0	0	1	0	0	0	--	--		0	A			PLEKHG6_uc001qns.2_Missense_Mutation_p.G134D|PLEKHG6_uc010sew.1_Missense_Mutation_p.G134D|PLEKHG6_uc010sex.1_Missense_Mutation_p.G102D	99	GBM-06-5417-TP	p.G134D	G	ATAGGAGAGGGTGGCGACAGT	NM_018173	NP_060643	6424277	Q3KR16	PKHG6_HUMAN	0			4	549	+	A	A			Missense_Mutation	134						
PLEKHG6	0	broad.mit.edu	GRCh37	12	6436676	6436676	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01	TCGA-32-2634-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000011684.7:c.1927C>T	p.Arg643Cys	p.R643C	ENST00000011684	NM_018173.3	643	Cgc/Tgc	0			1			T	R/C	uc001qnr.2	protein_coding		CCDS8541.1			1927/2373									large_intestine(1)|skin(1)	2	c.(1927-1929)CGC>TGC			hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF13	pleckstrin homology domain-containing family G				ENSP00000011684		15/16	4.12E-05		9.33E-05		0.000178			0.000194	rs762521032,COSM3398981,COSM3398982	15/16	.		ENST00000011684	Transcript			regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	ENSG00000008323	g.chr12:6436676C>T	25562			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=PKHG6_HUMAN&rb=501&re=788&var=R643C	NA	getma.org/?cm=var&var=hg19,12,6436676,C,T&fts=all	R643C	--	--	1																																		PLEKHG6_uc010sew.1_Missense_Mutation_p.R643C|PLEKHG6_uc010sex.1_Missense_Mutation_p.R611C	0,1,1			probably_damaging(1)	p.R643C	NM_018173	NP_060643		deleterious_low_confidence(0)	0,1,1	PKHG6_HUMAN	PLEKHG6	HGNC	Q3KR16	PKHG6_HUMAN					15	2075	+			UPI000013EFF6	643					SNV	PLEKHG6,missense_variant,p.Arg611Cys,ENST00000449001,NM_001144857.1;PLEKHG6,missense_variant,p.Arg643Cys,ENST00000396988,NM_001144856.1;PLEKHG6,missense_variant,p.Arg643Cys,ENST00000011684,NM_018173.3;PLEKHG6,missense_variant,p.Arg173Cys,ENST00000304581,;TNFRSF1A,downstream_gene_variant,,ENST00000162749,NM_001065.3;TNFRSF1A,downstream_gene_variant,,ENST00000540022,;TNFRSF1A,downstream_gene_variant,,ENST00000366159,;TNFRSF1A,downstream_gene_variant,,ENST00000539372,;TNFRSF1A,downstream_gene_variant,,ENST00000437813,;TNFRSF1A,downstream_gene_variant,,ENST00000543359,;TNFRSF1A,downstream_gene_variant,,ENST00000535038,;TNFRSF1A,downstream_gene_variant,,ENST00000537842,;TNFRSF1A,downstream_gene_variant,,ENST00000534885,;TNFRSF1A,downstream_gene_variant,,ENST00000543995,;TNFRSF1A,downstream_gene_variant,,ENST00000536717,;	uc001qnr.2	c.1927C>T	2075/2881	2	2			c.1927C>T						12	SNP	c.(1927-1929)CGC>TGC	22	22			large_intestine(1)|skin(1)	2	Broad	pleckstrin homology domain-containing family G			6436676		0.642	ENSG00000008323	11876	g.chr12:6436676C>T	regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity							69.748482	KEEP	5	17	-1	8	18	5	17	-1	69.767315	8	18	0.478261	1	0	0	0	0	1	0	0	0	--	--		0	T			PLEKHG6_uc010sew.1_Missense_Mutation_p.R643C|PLEKHG6_uc010sex.1_Missense_Mutation_p.R611C	241	GBM-32-2634-TP	p.R643C	C	AGCTCCTCAACGCCGAAGCGC	NM_018173	NP_060643	6436676	Q3KR16	PKHG6_HUMAN	0			15	2075	+	T	T			Missense_Mutation	643						
PLEKHG7	440107	broad.mit.edu	GRCh37	12	93148040	93148040	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs115752910	by1000genomes	TCGA-06-0749-01	TCGA-06-0749-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344636.3:c.490C>T	p.Arg164Trp	p.R164W	ENST00000344636	NM_001004330.2	164	Cgg/Tgg	0		T:0	1	T:0		T	R/W	uc001tcj.2	protein_coding	YES	CCDS31873.1			490/1140									ovary(1)	1	c.(490-492)CGG>TGG			Gene3D:1.20.900.10,PROSITE_profiles:PS50010,hmmpanther:PTHR13217,hmmpanther:PTHR13217:SF8,SMART_domains:SM00325,Superfamily_domains:SSF48065	pleckstrin homology domain containing, family G		T:0.001		ENSP00000344961	T:0	12-Jun									rs115752910,COSM2151908	12-Jun	.		ENST00000344636	Transcript		T:0.0002	regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	ENSG00000187510	g.chr12:93148040C>T	33829			MODERATE		1.32	low	getma.org/?cm=msa&ty=f&p=PKHG7_HUMAN&rb=1&re=167&var=R164W	getma.org/pdb.php?prot=PKHG7_HUMAN&from=1&to=167&var=R164W	getma.org/?cm=var&var=hg19,12,93148040,C,T&fts=all	R164W	--	--	1																																			0,1	1		benign(0.032)	p.R164W	NM_001004330	NP_001004330	T:0	tolerated(0.09)	0,1	PKHG7_HUMAN	PLEKHG7	HGNC	Q6ZR37	PKHG7_HUMAN					6	720	+			UPI00001C1015	164			DH.		SNV	PLEKHG7,missense_variant,p.Arg164Trp,ENST00000344636,NM_001004330.2;PLEKHG7,downstream_gene_variant,,ENST00000549856,;	uc001tcj.2	c.490C>T	674/3584	1	1			c.490C>T						12	SNP	c.(490-492)CGG>TGG	6	6			ovary(1)	1	Broad	pleckstrin homology domain containing, family G			93148040		0.438	ENSG00000187510	11877	g.chr12:93148040C>T	regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity							51.528187	KEEP	13	7	-1	26	25	13	7	-1	53.818555	26	25	0.295082	1	0	0	0	0	1	0	0	0	--	--		0	T				69	GBM-06-0749-TP	p.R164W	C	AAAGTCCATCCGTAAGTCCCT	NM_001004330	NP_001004330	93148040	Q6ZR37	PKHG7_HUMAN	0			6	720	+	T	T			Missense_Mutation	164			DH.			
PLEKHH1	0	broad.mit.edu	GRCh37	14	68026397	68026397	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-32-1986-01	TCGA-32-1986-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329153.5:c.412A>C	p.Lys138Gln	p.K138Q	ENST00000329153	NM_020715.2	138	Aag/Cag	0			1			C	K/Q	uc001xjl.1	protein_coding	YES	CCDS45128.1			412/4095										0	c.(412-414)AAG>CAG			hmmpanther:PTHR22903:SF4,hmmpanther:PTHR22903	pleckstrin homology domain containing, family H				ENSP00000330278		29-May									COSM3401423,COSM3401422	29-May	.		ENST00000329153	Transcript				cytoskeleton	binding	ENSG00000054690	g.chr14:68026397A>C	17733			MODERATE		2.28	medium	getma.org/?cm=msa&ty=f&p=PKHH1_HUMAN&rb=1&re=575&var=K138Q	NA	getma.org/?cm=var&var=hg19,14,68026397,A,C&fts=all	K138Q	--	--	1																																			1,1	1		probably_damaging(0.999)	p.K138Q	NM_020715	NP_065766		deleterious(0)	1,1	PKHH1_HUMAN	PLEKHH1	HGNC	Q9ULM0	PKHH1_HUMAN		all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)	B3KWD2_HUMAN		5	554	+			UPI00001C1F64	138			Potential.		SNV	PLEKHH1,missense_variant,p.Lys138Gln,ENST00000329153,NM_020715.2;	uc001xjl.1	c.412A>C	544/6604	3	3			c.412A>C						14	SNP	c.(412-414)AAG>CAG	62	62				0	Broad	pleckstrin homology domain containing, family H			68026397		0.537	ENSG00000054690	11878	g.chr14:68026397A>C		cytoskeleton	binding							12.293716	KEEP	1	4	-1	1	12	1	4	-1	13.030979	1	12	0.266667	1	0	0	0	0	1	0	0	0	--	--		0	C				233	GBM-32-1986-TP	p.K138Q	A	GGTGACACTCAAGTTGGCAAA	NM_020715	NP_065766	68026397	Q9ULM0	PKHH1_HUMAN	0		all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)	5	554	+	C	C			Missense_Mutation	138			Potential.			
PLEKHH1	0	broad.mit.edu	GRCh37	14	68035891	68035891	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01	TCGA-41-3392-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329153.5:c.1300C>T	p.Arg434Trp	p.R434W	ENST00000329153	NM_020715.2	434	Cgg/Tgg	0			1			T	R/W	uc001xjl.1	protein_coding	YES	CCDS45128.1			1300/4095										0	c.(1300-1302)CGG>TGG			hmmpanther:PTHR22903:SF4,hmmpanther:PTHR22903	pleckstrin homology domain containing, family H				ENSP00000330278		29-Aug	4.14E-05			0.000232		3.01E-05			rs759354131,COSM3401425,COSM3401424	29-Aug	.		ENST00000329153	Transcript				cytoskeleton	binding	ENSG00000054690	g.chr14:68035891C>T	17733			MODERATE		2.05	medium	getma.org/?cm=msa&ty=f&p=PKHH1_HUMAN&rb=1&re=575&var=R434W	NA	getma.org/?cm=var&var=hg19,14,68035891,C,T&fts=all	R434W	--	--	1																																		PLEKHH1_uc010tsw.1_Missense_Mutation_p.R2W|PLEKHH1_uc001xjm.1_5'Flank|PLEKHH1_uc001xjn.1_5'Flank	0,1,1	1		possibly_damaging(0.582)	p.R434W	NM_020715	NP_065766		deleterious(0)	0,1,1	PKHH1_HUMAN	PLEKHH1	HGNC	Q9ULM0	PKHH1_HUMAN		all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)	B3KWD2_HUMAN		8	1442	+			UPI00001C1F64	434					SNV	PLEKHH1,missense_variant,p.Arg434Trp,ENST00000329153,NM_020715.2;PLEKHH1,non_coding_transcript_exon_variant,,ENST00000558386,;PLEKHH1,upstream_gene_variant,,ENST00000557971,;PLEKHH1,upstream_gene_variant,,ENST00000558981,;PLEKHH1,upstream_gene_variant,,ENST00000561456,;PLEKHH1,upstream_gene_variant,,ENST00000561135,;	uc001xjl.1	c.1300C>T	1432/6604	2	2			c.1300C>T						14	SNP	c.(1300-1302)CGG>TGG	24	24				0	Broad	pleckstrin homology domain containing, family H			68035891		0.592	ENSG00000054690	11878	g.chr14:68035891C>T		cytoskeleton	binding							-5.824825	KEEP	2	1	-1	34	37	2	1	-1	6.50676	34	37	0.051724	1	0	0	0	0	1	0	0	0	--	--		0	T			PLEKHH1_uc010tsw.1_Missense_Mutation_p.R2W|PLEKHH1_uc001xjm.1_5'Flank|PLEKHH1_uc001xjn.1_5'Flank	254	GBM-41-3392-TP	p.R434W	C	ATCGGGCATGCGGCTCTCAGA	NM_020715	NP_065766	68035891	Q9ULM0	PKHH1_HUMAN	0		all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)	8	1442	+	T	T			Missense_Mutation	434						
PLEKHH3	0	broad.mit.edu	GRCh37	17	40823101	40823101	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-1395-01	TCGA-14-1395-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591022.1:c.1332C>T	p.Asn444=	p.N444=	ENST00000591022	NM_024927.4	444	aaC/aaT	0			1			A	N	uc002iau.2	protein_coding	YES	CCDS11434.1			1332/2382									large_intestine(1)|ovary(1)	2	c.(1330-1332)AAC>AAT			Pfam_domain:PF00788,PROSITE_profiles:PS50057,hmmpanther:PTHR22903,SMART_domains:SM00295	pleckstrin homology domain containing, family H				ENSP00000468678		13-Sep									COSM3402910	13-Sep	.		ENST00000591022	Transcript			signal transduction	cytoskeleton		ENSG00000068137	g.chr17:40823101G>A	26105			LOW								--	--	1																																		PLEKHH3_uc010cyl.1_Intron|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Intron|PLEKHH3_uc002iaw.2_Silent_p.N444N	1	1			p.N444N	NM_024927	NP_079203			1	PKHH3_HUMAN	PLEKHH3	HGNC	Q7Z736	PKHH3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)			9	1799	-		Breast(137;0.00116)	UPI0000200DD6	444			FERM.		SNV	PLEKHH3,synonymous_variant,p.=,ENST00000293349,;PLEKHH3,synonymous_variant,p.=,ENST00000591022,NM_024927.4;PLEKHH3,synonymous_variant,p.=,ENST00000412503,;TUBG2,downstream_gene_variant,,ENST00000251412,NM_016437.2;PLEKHH3,downstream_gene_variant,,ENST00000587627,;PLEKHH3,non_coding_transcript_exon_variant,,ENST00000456950,;PLEKHH3,downstream_gene_variant,,ENST00000592974,;PLEKHH3,downstream_gene_variant,,ENST00000591544,;PLEKHH3,synonymous_variant,p.=,ENST00000591196,;PLEKHH3,non_coding_transcript_exon_variant,,ENST00000591490,;TUBG2,downstream_gene_variant,,ENST00000588870,;PLEKHH3,upstream_gene_variant,,ENST00000591476,;	uc002iau.2	c.1332C>T	1720/2983	2	2			c.1332C>T						17	SNP	c.(1330-1332)AAC>AAT	34	34			large_intestine(1)|ovary(1)	2	Broad	pleckstrin homology domain containing, family H			40823101		0.657	ENSG00000068137	11880	g.chr17:40823101G>A	signal transduction	cytoskeleton								89.219314	KEEP	12	20	-1	11	20	12	20	-1	89.252404	11	20	0.525424	1	0	0	0	0	0	0	1	0	--	--		0	A			PLEKHH3_uc010cyl.1_Intron|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Intron|PLEKHH3_uc002iaw.2_Silent_p.N444N	144	GBM-14-1395-TP	p.N444N	G	GCGCGAATGCGTTGCGGCTCC	NM_024927	NP_079203	40823101	Q7Z736	PKHH3_HUMAN	0		BRCA - Breast invasive adenocarcinoma(366;0.14)	9	1799	-	A	A		Breast(137;0.00116)	Silent	444			FERM.			
PLEKHM2	0	broad.mit.edu	GRCh37	1	16044415	16044415	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-4926-01	TCGA-76-4926-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375799.3:c.305A>G	p.Asn102Ser	p.N102S	ENST00000375799	NM_015164.2	102	aAc/aGc	0			1			G	N/S	uc010obo.1	protein_coding	YES	CCDS44063.1			305/3060									ovary(1)	1	c.(304-306)AAC>AGC			Superfamily_domains:0052343,Pfam_domain:PF02759,PROSITE_profiles:PS50826,SMART_domains:SM00593	pleckstrin homology domain containing, family M				ENSP00000364956		20-Apr									COSM3399894,COSM3399893	20-Apr	.		ENST00000375799	Transcript			Golgi organization	cytoplasm	kinesin binding	ENSG00000116786	g.chr1:16044415A>G	29131			MODERATE		2.07	medium	getma.org/?cm=msa&ty=f&p=PKHM2_HUMAN&rb=44&re=157&var=N102S	getma.org/pdb.php?prot=PKHM2_HUMAN&from=44&to=157&var=N102S	getma.org/?cm=var&var=hg19,1,16044415,A,G&fts=all	N102S	--	--	1																																			1,1	1		benign(0.34)	p.N102S	NM_015164	NP_055979		tolerated(0.28)	1,1	PKHM2_HUMAN	PLEKHM2	HGNC	Q8IWE5	PKHM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)			4	532	+		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	UPI00001C1D9C	102			RUN.|Interaction with KIF5B.		SNV	PLEKHM2,missense_variant,p.Asn102Ser,ENST00000375799,NM_015164.2;PLEKHM2,missense_variant,p.Asn102Ser,ENST00000375793,;RP11-288I21.1,downstream_gene_variant,,ENST00000453804,;PLEKHM2,non_coding_transcript_exon_variant,,ENST00000462455,;	uc010obo.1	c.305A>G	532/4122	4	4			c.305A>G						1	SNP	c.(304-306)AAC>AGC	28	28			ovary(1)	1	Broad	pleckstrin homology domain containing, family M			16044415		0.572	ENSG00000116786	11883	g.chr1:16044415A>G	Golgi organization	cytoplasm	kinesin binding							22.318	KEEP	5	3	-1	6	11	5	3	-1	23.10256	6	11	0.304348	1	0	0	0	0	1	0	0	0	--	--		0	G				266	GBM-76-4926-TP	p.N102S	A	CTGGCCCTCAACGAGAACTCC	NM_015164	NP_055979	16044415	Q8IWE5	PKHM2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	4	532	+	G	G		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	102			RUN.|Interaction with KIF5B.			
PLEKHM3	389072	broad.mit.edu	GRCh37	2	208841462	208841462	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5412-01	TCGA-06-5412-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000427836.2:c.1459C>T	p.Arg487Cys	p.R487C	ENST00000427836	NM_001080475.2	487	Cgc/Tgc	0		A:0	1	A:0		A	R/C	uc002vcl.2	protein_coding	YES	CCDS42808.1			1459/2286									ovary(1)	1	c.(1459-1461)CGC>TGC			hmmpanther:PTHR12326,hmmpanther:PTHR12326:SF10	pleckstrin homology domain containing, family M,		A:0		ENSP00000417003	A:0	8-Mar	0.000132		8.67E-05			3.00E-05		0.000788	rs200329503,COSM3407517,COSM3407516	8-Mar	common_variant		ENST00000427836	Transcript		A:0.0002	intracellular signal transduction		metal ion binding	ENSG00000178385	g.chr2:208841462G>A	34006			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=PKHM3_HUMAN&rb=457&re=514&var=R487C	NA	getma.org/?cm=var&var=hg19,2,208841462,G,A&fts=all	R487C	--	--	1																																		PLEKHM3_uc002vcm.2_Missense_Mutation_p.R487C	0,1,1	1		probably_damaging(0.994)	p.R487C	NM_001080475	NP_001073944	A:0.001	deleterious(0)	0,1,1	PKHM3_HUMAN	PLEKHM3	HGNC	Q6ZWE6	PKHM3_HUMAN					3	1949	-			UPI0000DBEE58	487					SNV	PLEKHM3,missense_variant,p.Arg487Cys,ENST00000457206,;PLEKHM3,missense_variant,p.Arg487Cys,ENST00000427836,NM_001080475.2;PLEKHM3,missense_variant,p.Arg487Cys,ENST00000389247,;PLEKHM3,missense_variant,p.Arg239Cys,ENST00000447645,;	uc002vcl.2	c.1459C>T	1949/2792	2	2			c.1459C>T						2	SNP	c.(1459-1461)CGC>TGC	32	32			ovary(1)	1	Broad	pleckstrin homology domain containing, family M,			208841462		0.478	ENSG00000178385	11884	g.chr2:208841462G>A	intracellular signal transduction		metal ion binding							14.434435	KEEP	4	6	-1	30	28	4	6	-1	22.176817	30	28	0.142857	1	0	0	0	0	1	0	0	0	--	--		0	A			PLEKHM3_uc002vcm.2_Missense_Mutation_p.R487C	95	GBM-06-5412-TP	p.R487C	G	ACAGATTGGCGTTTGTTCTTC	NM_001080475	NP_001073944	208841462	Q6ZWE6	PKHM3_HUMAN	0			3	1949	-	A	A			Missense_Mutation	487						
PLEKHM3	0	broad.mit.edu	GRCh37	2	208841553	208841553	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-32-1991-01	TCGA-32-1991-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000427836.2:c.1368T>C	p.Asn456=	p.N456=	ENST00000427836	NM_001080475.2	456	aaT/aaC	0			1			G	N	uc002vcl.2	protein_coding	YES	CCDS42808.1			1368/2286									ovary(1)	1	c.(1366-1368)AAT>AAC			PROSITE_profiles:PS50003,hmmpanther:PTHR12326,hmmpanther:PTHR12326:SF10,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	pleckstrin homology domain containing, family M,				ENSP00000417003		8-Mar	8.27E-06							6.06E-05	rs768218438,COSM3407519,COSM3407518	8-Mar	.		ENST00000427836	Transcript			intracellular signal transduction		metal ion binding	ENSG00000178385	g.chr2:208841553A>G	34006			LOW								--	--	1																																		PLEKHM3_uc002vcm.2_Silent_p.N456N	0,1,1	1			p.N456N	NM_001080475	NP_001073944			0,1,1	PKHM3_HUMAN	PLEKHM3	HGNC	Q6ZWE6	PKHM3_HUMAN					3	1858	-			UPI0000DBEE58	456			PH 2.		SNV	PLEKHM3,synonymous_variant,p.=,ENST00000457206,;PLEKHM3,synonymous_variant,p.=,ENST00000427836,NM_001080475.2;PLEKHM3,synonymous_variant,p.=,ENST00000389247,;PLEKHM3,synonymous_variant,p.=,ENST00000447645,;	uc002vcl.2	c.1368T>C	1858/2792	3	3			c.1368T>C						2	SNP	c.(1366-1368)AAT>AAC	64	64			ovary(1)	1	Broad	pleckstrin homology domain containing, family M,			208841553		0.522	ENSG00000178385	11884	g.chr2:208841553A>G	intracellular signal transduction		metal ion binding							141.656591	KEEP	25	25	-1	40	39	25	25	-1	142.183328	40	39	0.424528	1	0	0	0	0	0	0	1	0	--	--		0	G			PLEKHM3_uc002vcm.2_Silent_p.N456N	234	GBM-32-1991-TP	p.N456N	A	TCCTCGCCACATTGGCAGCTA	NM_001080475	NP_001073944	208841553	Q6ZWE6	PKHM3_HUMAN	0			3	1858	-	G	G			Silent	456			PH 2.			
PLEKHM3	389072		GRCh37	2	208842070	208842070	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000427836.2:c.851C>G	p.Thr284Ser	p.T284S	ENST00000427836	NM_001080475.2	284	aCt/aGt	0																																																																																																																																																																																																																																												
PLEKHN1	0	broad.mit.edu	GRCh37	1	909247	909247	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs72631892	by1000genomes	TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379409.2:c.1625C>T	p.Thr542Met	p.T542M	ENST00000379409		542	aCg/aTg	0			1			T	T/M	uc001ace.2	protein_coding					1625/1992										0	c.(1624-1626)ACG>ATG			Low_complexity_(Seg):seg,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF96	pleckstrin homology domain containing, family N				ENSP00000368719		13/15	1.65E-05					3.09E-05			rs72631892,COSM3401077,COSM3401078	13/15	.		ENST00000379409	Transcript						ENSG00000187583	g.chr1:909247C>T	25284			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=PKHN1_HUMAN&rb=401&re=600&var=T542M	NA	getma.org/?cm=var&var=hg19,1,909247,C,T&fts=all	T542M	--	--	1																																		PLEKHN1_uc001acd.2_Missense_Mutation_p.T490M|PLEKHN1_uc001acf.2_Missense_Mutation_p.T455M	0,1,1			benign(0.008)	p.T542M	NM_032129	NP_115505		tolerated(0.06)	0,1,1	PKHN1_HUMAN	PLEKHN1	HGNC	Q494U1	PKHN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	J3KSM5_HUMAN		13	1660	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	UPI0000D61E06	542					SNV	PLEKHN1,missense_variant,p.Thr542Met,ENST00000379409,;PLEKHN1,missense_variant,p.Thr490Met,ENST00000379410,NM_032129.2;PLEKHN1,missense_variant,p.Thr455Met,ENST00000379407,NM_001160184.1;PLEKHN1,missense_variant,p.Thr55Met,ENST00000491024,;C1orf170,downstream_gene_variant,,ENST00000433179,;C1orf170,downstream_gene_variant,,ENST00000341290,;C1orf170,downstream_gene_variant,,ENST00000479361,;PLEKHN1,downstream_gene_variant,,ENST00000480267,;	uc001ace.2	c.1625C>T	1655/2455	2	2			c.1625C>T						1	SNP	c.(1624-1626)ACG>ATG	47	47				0	Broad	pleckstrin homology domain containing, family N			909247		0.682	ENSG00000187583	11885	g.chr1:909247C>T										27.176693	KEEP	5	8	-1	21	30	5	8	-1	30.628694	21	30	0.230769	1	0	0	0	0	1	0	0	0	--	--		0	T			PLEKHN1_uc001acd.2_Missense_Mutation_p.T490M|PLEKHN1_uc001acf.2_Missense_Mutation_p.T455M	229	GBM-32-1977-TP	p.T542M	C	CGTGGACCCACGCCCTCGAGC	NM_032129	NP_115505	909247	Q494U1	PKHN1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	13	1660	+	T	T	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	Missense_Mutation	542						
PLEKHO1	0	broad.mit.edu	GRCh37	1	150131552	150131552	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01	TCGA-27-1835-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369124.4:c.1064C>T	p.Thr355Met	p.T355M	ENST00000369124	NM_016274.4	355	aCg/aTg	0			1			T	T/M	uc001ett.2	protein_coding	YES	CCDS945.1			1064/1230									lung(1)	1	c.(1063-1065)ACG>ATG			hmmpanther:PTHR15871:SF1,hmmpanther:PTHR15871	pleckstrin homology domain containing, family O				ENSP00000358120		6-Jun	1.65E-05					3.01E-05			rs781922261,COSM2157266	6-Jun	.		ENST00000369124	Transcript				cytoplasm|nucleus|plasma membrane		ENSG00000023902	g.chr1:150131552C>T	24310			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=PKHO1_HUMAN&rb=333&re=409&var=T355M	NA	getma.org/?cm=var&var=hg19,1,150131552,C,T&fts=all	T355M	--	--	1																																		PLEKHO1_uc001etr.2_Missense_Mutation_p.T183M|PLEKHO1_uc001ets.2_Missense_Mutation_p.T172M|PLEKHO1_uc001etu.2_Missense_Mutation_p.T183M	0,1	1		possibly_damaging(0.891)	p.T355M	NM_016274	NP_057358		deleterious(0.01)	0,1	PKHO1_HUMAN	PLEKHO1	HGNC	Q53GL0	PKHO1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		Q5T4P9_HUMAN		6	1342	+	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		UPI000006DFAC	355			Negative regulator of AP-1 activity.		SNV	PLEKHO1,missense_variant,p.Thr355Met,ENST00000369124,NM_016274.4;PLEKHO1,missense_variant,p.Thr172Met,ENST00000369126,;PLEKHO1,missense_variant,p.Thr321Met,ENST00000025469,;PLEKHO1,downstream_gene_variant,,ENST00000441340,;PLEKHO1,downstream_gene_variant,,ENST00000479194,;PLEKHO1,downstream_gene_variant,,ENST00000477309,;PLEKHO1,downstream_gene_variant,,ENST00000485470,;PLEKHO1,upstream_gene_variant,,ENST00000502767,;PLEKHO1,non_coding_transcript_exon_variant,,ENST00000466659,;	uc001ett.2	c.1064C>T	1342/2050	1	1			c.1064C>T						1	SNP	c.(1063-1065)ACG>ATG	12	12			lung(1)	1	Broad	pleckstrin homology domain containing, family O			150131552		0.607	ENSG00000023902	11886	g.chr1:150131552C>T		cytoplasm|nucleus|plasma membrane								74.569384	KEEP	13	17	-1	19	28	13	17	-1	74.668158	19	28	0.454545	1	0	0	0	0	1	0	0	0	--	--		0	T			PLEKHO1_uc001etr.2_Missense_Mutation_p.T183M|PLEKHO1_uc001ets.2_Missense_Mutation_p.T172M|PLEKHO1_uc001etu.2_Missense_Mutation_p.T183M	194	GBM-27-1835-TP	p.T355M	C	CTGCTGGAGACGGAACGGCTG	NM_016274	NP_057358	150131552	Q53GL0	PKHO1_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.171)		6	1342	+	T	T	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		Missense_Mutation	355			Negative regulator of AP-1 activity.			
PLG	5340	broad.mit.edu	GRCh37	6	161173177	161173177	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01	TCGA-02-0047-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308192.9:c.2156C>T	p.Ala719Val	p.A719V	ENST00000308192	NM_000301.3	719	gCc/gTc	0			1			T	A/V	uc003qtm.3	protein_coding	YES	CCDS5279.1			2156/2433									skin(3)|ovary(1)	4	c.(2155-2157)GCC>GTC			Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF001150,PROSITE_profiles:PS50240,hmmpanther:PTHR24259,hmmpanther:PTHR24259:SF70,SMART_domains:SM00020,Superfamily_domains:SSF50494	plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)			ENSP00000308938		18/19									COSM2148977	18/19	.		ENST00000308192	Transcript	1		extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	ENSG00000122194	g.chr6:161173177C>T	9071			MODERATE		-0.5	neutral	getma.org/?cm=msa&ty=f&p=PLMN_HUMAN&rb=581&re=803&var=A719V	getma.org/pdb.php?prot=PLMN_HUMAN&from=581&to=803&var=A719V	getma.org/?cm=var&var=hg19,6,161173177,C,T&fts=all	A719V	--	--	1																																			1	1		benign(0.367)	p.A719V	NM_000301	NP_000292		tolerated(0.22)	1	PLMN_HUMAN	PLG	HGNC	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Q9UMI2_HUMAN,Q68DS2_HUMAN,Q5TEH5_HUMAN,B4DPH4_HUMAN		18	2219	+			UPI000000D8B8	719			Peptidase S1.		SNV	PLG,missense_variant,p.Ala719Val,ENST00000308192,NM_000301.3;PLG,non_coding_transcript_exon_variant,,ENST00000461414,;PLG,non_coding_transcript_exon_variant,,ENST00000467466,;	uc003qtm.3	c.2156C>T	2219/2741	1	1			c.2156C>T						6	SNP	c.(2155-2157)GCC>GTC	12	12			skin(3)|ovary(1)	4	Broad	plasminogen		Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	161173177		0.468	ENSG00000122194	11888	g.chr6:161173177C>T	extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity							75.11359	KEEP	15	18	-1	39	41	15	18	-1	79.907163	39	41	0.277778	1	0	0	0	0	1	0	0	0	--	--		0	T				3	GBM-02-0047-TP	p.A719V	C	CTCAAGGAAGCCCAGCTCCCT	NM_000301	NP_000292	161173177	P00747	PLMN_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	18	2219	+	T	T			Missense_Mutation	719			Peptidase S1.			
PLG	5340	broad.mit.edu	GRCh37	6	161127532	161127532	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0649-01	TCGA-06-0649-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308192.9:c.143A>G	p.Glu48Gly	p.E48G	ENST00000308192	NM_000301.3	48	gAa/gGa	0			1			G	E/G	uc003qtm.3	protein_coding	YES	CCDS5279.1			143/2433									skin(3)|ovary(1)	4	c.(142-144)GAA>GGA			Gene3D:3.50.4.10,Pfam_domain:PF00024,PIRSF_domain:PIRSF001150,PROSITE_profiles:PS50948,hmmpanther:PTHR24259,hmmpanther:PTHR24259:SF70,Low_complexity_(Seg):seg,SMART_domains:SM00473,Superfamily_domains:SSF57414	plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)			ENSP00000308938		19-Feb									COSM2151443	19-Feb	.		ENST00000308192	Transcript	1		extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	ENSG00000122194	g.chr6:161127532A>G	9071			MODERATE		2.57	medium	getma.org/?cm=msa&ty=f&p=PLMN_HUMAN&rb=23&re=99&var=E48G	getma.org/pdb.php?prot=PLMN_HUMAN&from=23&to=99&var=E48G	getma.org/?cm=var&var=hg19,6,161127532,A,G&fts=all	E48G	--	--	1																																			1	1		possibly_damaging(0.864)	p.E48G	NM_000301	NP_000292		deleterious(0)	1	PLMN_HUMAN	PLG	HGNC	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Q9UMI2_HUMAN,Q68DS2_HUMAN,Q5TEH5_HUMAN,B4DPH4_HUMAN		2	206	+			UPI000000D8B8	48			PAN.		SNV	PLG,missense_variant,p.Glu48Gly,ENST00000308192,NM_000301.3;PLG,missense_variant,p.Glu48Gly,ENST00000366924,NM_001168338.1;PLG,missense_variant,p.Glu48Gly,ENST00000418964,;PLG,non_coding_transcript_exon_variant,,ENST00000462918,;PLG,non_coding_transcript_exon_variant,,ENST00000494325,;PLG,non_coding_transcript_exon_variant,,ENST00000483038,;PLG,intron_variant,,ENST00000297289,;PLG,non_coding_transcript_exon_variant,,ENST00000484367,;PLG,non_coding_transcript_exon_variant,,ENST00000471691,;	uc003qtm.3	c.143A>G	206/2741	3	3			c.143A>G						6	SNP	c.(142-144)GAA>GGA	6	6			skin(3)|ovary(1)	4	Broad	plasminogen		Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	161127532		0.468	ENSG00000122194	11888	g.chr6:161127532A>G	extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity							246.428786	KEEP	41	40	-1	58	77	41	40	-1	249.092426	58	77	0.375635	1	0	0	0	0	1	0	0	0	--	--		0	G				62	GBM-06-0649-TP	p.E48G	A	AGTATAGAAGAATGTGCAGCA	NM_000301	NP_000292	161127532	P00747	PLMN_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	2	206	+	G	G			Missense_Mutation	48			PAN.			
PLIN2	123	broad.mit.edu	GRCh37	9	19116616	19116616	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01	TCGA-06-0195-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276914.2:c.944G>A	p.Arg315His	p.R315H	ENST00000276914	NM_001122.3	315	cGc/cAc	0			1			T	R/H	uc003zno.2	protein_coding	YES	CCDS6490.1			944/1314									ovary(2)	2	c.(943-945)CGC>CAC			Superfamily_domains:0043810,Pfam_domain:PF03036,PIRSF_domain:PIRSF036881,hmmpanther:PTHR14024	adipose differentiation-related protein				ENSP00000276914		8-Aug									COSM3413547	8-Aug	.		ENST00000276914	Transcript			cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle		ENSG00000147872	g.chr9:19116616C>T	248			MODERATE		1.81	low	getma.org/?cm=msa&ty=f&p=PLIN2_HUMAN&rb=1&re=396&var=R315H	getma.org/pdb.php?prot=PLIN2_HUMAN&from=1&to=396&var=R315H	getma.org/?cm=var&var=hg19,9,19116616,C,T&fts=all	R315H	--	--	1																																		PLIN2_uc011lna.1_Missense_Mutation_p.R287H	1	1		benign(0.056)	p.R315H	NM_001122	NP_001113		tolerated(0.15)	1	PLIN2_HUMAN	PLIN2	HGNC	Q99541	PLIN2_HUMAN			Q6FHZ7_HUMAN,Q5SYF5_HUMAN,B4DJK9_HUMAN		8	1123	-			UPI0000125535	315					SNV	PLIN2,missense_variant,p.Arg315His,ENST00000276914,NM_001122.3;PLIN2,missense_variant,p.Arg234His,ENST00000411567,;PLIN2,downstream_gene_variant,,ENST00000434144,;PLIN2,non_coding_transcript_exon_variant,,ENST00000464326,;	uc003zno.2	c.944G>A	1124/1972	2	2			c.944G>A						9	SNP	c.(943-945)CGC>CAC	21	21			ovary(2)	2	Broad	adipose differentiation-related protein			19116616		0.463	ENSG00000147872	11892	g.chr9:19116616C>T	cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle								-37.248707	KEEP	0	4	-1	97	101	0	4	-1	6.849853	97	101	0.022989	1	0	0	0	0	1	0	0	0	--	--		0	T			PLIN2_uc011lna.1_Missense_Mutation_p.R287H	45	GBM-06-0195-TP	p.R315H	C	AGTCAGGTTGCGGGCAATTGC	NM_001122	NP_001113	19116616	Q99541	PLIN2_HUMAN	0			8	1123	-	T	T			Missense_Mutation	315						
PLIN2	0	broad.mit.edu	GRCh37	9	19120899	19120899	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01	TCGA-14-1825-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276914.2:c.574C>T	p.Pro192Ser	p.P192S	ENST00000276914	NM_001122.3	192	Cct/Tct	0			1			A	P/S	uc003zno.2	protein_coding	YES	CCDS6490.1			574/1314									ovary(2)	2	c.(574-576)CCT>TCT			Superfamily_domains:0043810,Pfam_domain:PF03036,PIRSF_domain:PIRSF036881,hmmpanther:PTHR14024	adipose differentiation-related protein				ENSP00000276914		8-May									COSM3413548	8-May	.		ENST00000276914	Transcript			cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle		ENSG00000147872	g.chr9:19120899G>A	248			MODERATE		3.145	medium	getma.org/?cm=msa&ty=f&p=PLIN2_HUMAN&rb=1&re=396&var=P192S	getma.org/pdb.php?prot=PLIN2_HUMAN&from=1&to=396&var=P192S	getma.org/?cm=var&var=hg19,9,19120899,G,A&fts=all	P192S	--	--	1																																		PLIN2_uc011lna.1_Missense_Mutation_p.P164S|PLIN2_uc011lnb.1_Intron	1	1		probably_damaging(1)	p.P192S	NM_001122	NP_001113		deleterious(0)	1	PLIN2_HUMAN	PLIN2	HGNC	Q99541	PLIN2_HUMAN			Q6FHZ7_HUMAN,Q5SYF5_HUMAN,B4DJK9_HUMAN		5	753	-			UPI0000125535	192					SNV	PLIN2,missense_variant,p.Pro192Ser,ENST00000276914,NM_001122.3;PLIN2,intron_variant,,ENST00000411567,;PLIN2,downstream_gene_variant,,ENST00000380464,;PLIN2,downstream_gene_variant,,ENST00000380465,;PLIN2,downstream_gene_variant,,ENST00000434144,;PLIN2,downstream_gene_variant,,ENST00000475923,;PLIN2,downstream_gene_variant,,ENST00000472715,;PLIN2,upstream_gene_variant,,ENST00000464326,;	uc003zno.2	c.574C>T	754/1972	1	1			c.574C>T						9	SNP	c.(574-576)CCT>TCT	62	62			ovary(2)	2	Broad	adipose differentiation-related protein			19120899		0.403	ENSG00000147872	11892	g.chr9:19120899G>A	cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle								172.373638	KEEP	38	24	-1	48	39	38	24	-1	173.229235	48	39	0.414815	1	0	0	0	0	1	0	0	0	--	--		0	A			PLIN2_uc011lna.1_Missense_Mutation_p.P164S|PLIN2_uc011lnb.1_Intron	148	GBM-14-1825-TP	p.P192S	G	TCAGTGAGAGGGAGGTACTGT	NM_001122	NP_001113	19120899	Q99541	PLIN2_HUMAN	0			5	753	-	A	A			Missense_Mutation	192						
PLIN4	0	broad.mit.edu	GRCh37	19	4511216	4511216	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-41-3392-01	TCGA-41-3392-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301286.3:c.2714C>A	p.Thr905Asn	p.T905N	ENST00000301286	NM_001080400.1	905	aCc/aAc	0			1			T	T/N	uc002mar.1	protein_coding	YES	CCDS45927.1			2714/4074										0	c.(2713-2715)ACC>AAC			hmmpanther:PTHR14024,hmmpanther:PTHR14024:SF24	plasma membrane associated protein, S3-12				ENSP00000301286		6-Mar	2.48E-05		8.64E-05			3.00E-05			rs746541245,COSM3404367,COSM3404366	6-Mar	.		ENST00000301286	Transcript				lipid particle|plasma membrane		ENSG00000167676	g.chr19:4511216G>T	29393			MODERATE		2.855	medium	getma.org/?cm=msa&ty=f&p=PLIN4_HUMAN&rb=752&re=951&var=T905N	NA	getma.org/?cm=var&var=hg19,19,4511216,G,T&fts=all	T905N	--	--	1																																		PLIN4_uc010dub.1_5'UTR	0,1,1	1		probably_damaging(0.935)	p.T905N	NM_001080400	NP_001073869		deleterious(0)	0,1,1	PLIN4_HUMAN	PLIN4	HGNC	Q96Q06	PLIN4_HUMAN			B4DHR7_HUMAN		3	2714	-			UPI00001D822A	905			27 X 33 AA approximate tandem repeat.|25.		SNV	PLIN4,missense_variant,p.Thr905Asn,ENST00000301286,NM_001080400.1;	uc002mar.1	c.2714C>A	2714/6341	1	1			c.2714C>A						19	SNP	c.(2713-2715)ACC>AAC	7	7				0	Broad	plasma membrane associated protein, S3-12			4511216		0.577	ENSG00000167676	11894	g.chr19:4511216G>T		lipid particle|plasma membrane								137.051062	KEEP	27	26	0.509433962	48	58	27	26	0.509433962	139.275989	48	58	0.362963	1	0	0	0	0	1	0	0	0	--	--		0	T			PLIN4_uc010dub.1_5'UTR	254	GBM-41-3392-TP	p.T905N	G	AGTCTTGCTGGTGTCCACGCC	NM_001080400	NP_001073869	4511216	Q96Q06	PLIN4_HUMAN	0			3	2714	-	T	T			Missense_Mutation	905			27 X 33 AA approximate tandem repeat.|25.			
PLK2	0	broad.mit.edu	GRCh37	5	57754862	57754862	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01	TCGA-19-5958-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274289.3:c.328G>A	p.Ala110Thr	p.A110T	ENST00000274289	NM_006622.3	110	Gca/Aca	0			1			T	A/T	uc003jrn.2	protein_coding	YES	CCDS3974.1			328/2058									ovary(2)|lung(1)|skin(1)	4	c.(328-330)GCA>ACA			PROSITE_profiles:PS50011,hmmpanther:PTHR24345:SF44,hmmpanther:PTHR24345,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	polo-like kinase 2				ENSP00000274289		14-Feb									COSM246670	14-Feb	.		ENST00000274289	Transcript			positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	ENSG00000145632	g.chr5:57754862C>T	19699			MODERATE		1.425	low	getma.org/?cm=msa&ty=f&p=PLK2_HUMAN&rb=82&re=334&var=A110T	getma.org/pdb.php?prot=PLK2_HUMAN&from=82&to=334&var=A110T	getma.org/?cm=var&var=hg19,5,57754862,C,T&fts=all	A110T	--	--	1																																		PLK2_uc011cql.1_Missense_Mutation_p.A12T	1	1		probably_damaging(0.997)	p.A110T	NM_006622	NP_006613		deleterious(0.02)	1	PLK2_HUMAN	PLK2	HGNC	Q9NYY3	PLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)			2	455	-		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)	UPI0000135B35	110			Protein kinase.		SNV	PLK2,missense_variant,p.Ala110Thr,ENST00000274289,NM_006622.3,NM_001252226.1;PLK2,upstream_gene_variant,,ENST00000502671,;PLK2,non_coding_transcript_exon_variant,,ENST00000515415,;PLK2,non_coding_transcript_exon_variant,,ENST00000514306,;PLK2,non_coding_transcript_exon_variant,,ENST00000504196,;PLK2,non_coding_transcript_exon_variant,,ENST00000508300,;PLK2,upstream_gene_variant,,ENST00000503713,;PLK2,upstream_gene_variant,,ENST00000510629,;PLK2,upstream_gene_variant,,ENST00000503378,;PLK2,upstream_gene_variant,,ENST00000509422,;PLK2,upstream_gene_variant,,ENST00000505244,;PLK2,upstream_gene_variant,,ENST00000509555,;PLK2,upstream_gene_variant,,ENST00000503115,;PLK2,upstream_gene_variant,,ENST00000511326,;	uc003jrn.2	c.328G>A	629/2960	2	2			c.328G>A						5	SNP	c.(328-330)GCA>ACA	46	46			ovary(2)|lung(1)|skin(1)	4	Broad	polo-like kinase 2			57754862		0.423	ENSG00000145632	11898	g.chr5:57754862C>T	positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity		p.A110T(HCC1428-Tumor)|p.A110T(OVISE-Tumor)	266		p.A110T(HCC1428-Tumor)|p.A110T(OVISE-Tumor)	266	150.080906	KEEP	27	33	-1	56	41	27	33	-1	152.04722	56	41	0.372263	1	0	0	0	0	1	0	0	0	--	--		0	T			PLK2_uc011cql.1_Missense_Mutation_p.A12T	176	GBM-19-5958-TP	p.A110T	C	ATAATTTTTGCGGCGTAGACT	NM_006622	NP_006613	57754862	Q9NYY3	PLK2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)	2	455	-	T	T		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)	Missense_Mutation	110			Protein kinase.			
PLK3	0	broad.mit.edu	GRCh37	1	45271002	45271002	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-5952-01	TCGA-19-5952-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372201.4:c.1700T>C	p.Val567Ala	p.V567A	ENST00000372201	NM_004073.2	567	gTc/gCc	0			1			C	V/A	uc001cmn.2	protein_coding	YES	CCDS515.1			1700/1941										0	c.(1699-1701)GTC>GCC			Superfamily_domains:SSF82615,Gene3D:3.30.1120.30,hmmpanther:PTHR24345:SF42,hmmpanther:PTHR24345,PROSITE_profiles:PS50078	polo-like kinase 3				ENSP00000361275		14/15									COSM3400833	14/15	.		ENST00000372201	Transcript				membrane	ATP binding|protein binding|protein serine/threonine kinase activity	ENSG00000173846	g.chr1:45271002T>C	2154			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=PLK3_HUMAN&rb=567&re=637&var=V567A	NA	getma.org/?cm=var&var=hg19,1,45271002,T,C&fts=all	V567A	--	--	1																																		PLK3_uc001cmo.2_RNA	1	1		benign(0.052)	p.V567A	NM_004073	NP_004064		tolerated(0.13)	1	PLK3_HUMAN	PLK3	HGNC	Q9H4B4	PLK3_HUMAN					14	1800	+	Acute lymphoblastic leukemia(166;0.155)		UPI000013ED1D	567			POLO box 2.		SNV	PLK3,missense_variant,p.Val567Ala,ENST00000372201,NM_004073.2;BTBD19,upstream_gene_variant,,ENST00000453418,;BTBD19,upstream_gene_variant,,ENST00000450269,NM_001136537.1;TCTEX1D4,downstream_gene_variant,,ENST00000372200,NM_001013632.2;BTBD19,upstream_gene_variant,,ENST00000409335,;TCTEX1D4,downstream_gene_variant,,ENST00000339355,;PLK3,non_coding_transcript_exon_variant,,ENST00000465443,;PLK3,non_coding_transcript_exon_variant,,ENST00000492398,;PLK3,non_coding_transcript_exon_variant,,ENST00000493100,;PLK3,downstream_gene_variant,,ENST00000461358,;PLK3,downstream_gene_variant,,ENST00000476731,;PLK3,downstream_gene_variant,,ENST00000461769,;BTBD19,upstream_gene_variant,,ENST00000485668,;BTBD19,upstream_gene_variant,,ENST00000439563,;BTBD19,upstream_gene_variant,,ENST00000482715,;	uc001cmn.2	c.1700T>C	1939/2492	3	3			c.1700T>C						1	SNP	c.(1699-1701)GTC>GCC	54	54				0	Broad	polo-like kinase 3			45271002		0.602	ENSG00000173846	11899	g.chr1:45271002T>C		membrane	ATP binding|protein binding|protein serine/threonine kinase activity			186			186	-24.378057	KEEP	1	4	-1	57	72	1	4	-1	6.798502	57	72	0.024194	1	0	0	0	0	1	0	0	0	--	--		0	C			PLK3_uc001cmo.2_RNA	172	GBM-19-5952-TP	p.V567A	T	CTGCAGTGGGTCAAGACGGAT	NM_004073	NP_004064	45271002	Q9H4B4	PLK3_HUMAN	0			14	1800	+	C	C	Acute lymphoblastic leukemia(166;0.155)		Missense_Mutation	567			POLO box 2.			
PLK4	10733	broad.mit.edu	GRCh37	4	128807278	128807278	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-06-5413-01	TCGA-06-5413-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000270861.5:c.753A>T	p.Ala251=	p.A251=	ENST00000270861	NM_014264.4	251	gcA/gcT	0			1			T	A	uc003ifo.2	protein_coding	YES	CCDS3735.1			753/2913										0	c.(751-753)GCA>GCT			Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24345,hmmpanther:PTHR24345:SF50,Superfamily_domains:SSF56112	polo-like kinase 4				ENSP00000270861		16-May									COSM2153174	16-May	.		ENST00000270861	Transcript	1		G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000142731	g.chr4:128807278A>T	11397			LOW								--	--	1																																		PLK4_uc011cgs.1_Silent_p.A219A|PLK4_uc011cgt.1_Silent_p.A210A	1	1			p.A251A	NM_014264	NP_055079			1	PLK4_HUMAN	PLK4	HGNC	O00444	PLK4_HUMAN					5	998	+			UPI000007426E	251			Protein kinase.		SNV	PLK4,synonymous_variant,p.=,ENST00000270861,NM_014264.4;PLK4,synonymous_variant,p.=,ENST00000515069,;PLK4,synonymous_variant,p.=,ENST00000507249,;PLK4,synonymous_variant,p.=,ENST00000513090,NM_001190799.1;PLK4,synonymous_variant,p.=,ENST00000514379,NM_001190801.1;PLK4,downstream_gene_variant,,ENST00000511942,;PLK4,upstream_gene_variant,,ENST00000510605,;PLK4,upstream_gene_variant,,ENST00000507454,;PLK4,downstream_gene_variant,,ENST00000503914,;	uc003ifo.2	c.753A>T	1027/3841	2	2			c.753A>T						4	SNP	c.(751-753)GCA>GCT	24	24				0	Broad	polo-like kinase 4			128807278		0.353	ENSG00000142731	11900	g.chr4:128807278A>T	G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	Colon(135;508 1718 19061 31832 42879)		258	Colon(135;508 1718 19061 31832 42879)		258	158.881045	KEEP	23	34	-1	62	68	23	34	-1	163.777562	62	68	0.319527	1	0	0	0	0	0	0	1	0	--	--		0	T			PLK4_uc011cgs.1_Silent_p.A219A|PLK4_uc011cgt.1_Silent_p.A210A	96	GBM-06-5413-TP	p.A251A	A	GAAATCCAGCAGATCGTTTAA	NM_014264	NP_055079	128807278	O00444	PLK4_HUMAN	0			5	998	+	T	T			Silent	251			Protein kinase.			
PLS1	5357	broad.mit.edu	GRCh37	3	142405148	142405148	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0237-01	TCGA-06-0237-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337777.3:c.911T>G	p.Leu304Arg	p.L304R	ENST00000337777	NM_002670.2	304	cTg/cGg	0			1			G	L/R	uc010huv.2	protein_coding	YES	CCDS3125.1			911/1890									ovary(1)	1	c.(910-912)CTG>CGG			Gene3D:1.10.418.10,Pfam_domain:PF00307,PROSITE_profiles:PS50021,hmmpanther:PTHR19961,hmmpanther:PTHR19961:SF27,SMART_domains:SM00033,Superfamily_domains:SSF47576	plastin 1				ENSP00000336831		16-Sep									COSM2151048	16-Sep	.		ENST00000337777	Transcript				cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	ENSG00000120756	g.chr3:142405148T>G	9090			MODERATE		3.53	high	getma.org/?cm=msa&ty=f&p=PLSI_HUMAN&rb=269&re=376&var=L304R	getma.org/pdb.php?prot=PLSI_HUMAN&from=269&to=376&var=L304R	getma.org/?cm=var&var=hg19,3,142405148,T,G&fts=all	L304R	--	--	1																																		PLS1_uc003euz.2_Missense_Mutation_p.L304R|PLS1_uc003eva.2_Missense_Mutation_p.L304R	1	1		probably_damaging(0.995)	p.L304R	NM_001145319	NP_001138791		deleterious(0)	1	PLSI_HUMAN	PLS1	HGNC	Q14651	PLSI_HUMAN			C9JYI1_HUMAN,C9JVY2_HUMAN,C9JU08_HUMAN,C9JAM8_HUMAN,C9JAM3_HUMAN,C9J359_HUMAN,C9J0F3_HUMAN		9	1070	+			UPI000013D59A	304			Actin-binding 1.|CH 2.		SNV	PLS1,missense_variant,p.Leu304Arg,ENST00000337777,NM_002670.2;PLS1,missense_variant,p.Leu304Arg,ENST00000457734,NM_001145319.1;PLS1,missense_variant,p.Leu304Arg,ENST00000497002,NM_001172312.1;PLS1,missense_variant,p.Leu225Arg,ENST00000476044,;PLS1,upstream_gene_variant,,ENST00000483507,;	uc010huv.2	c.911T>G	1124/3755	3	3			c.911T>G						3	SNP	c.(910-912)CTG>CGG	49	49			ovary(1)	1	Broad	plastin 1			142405148		0.348	ENSG00000120756	11909	g.chr3:142405148T>G		cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton							163.122414	KEEP	35	22	-1	40	42	35	22	-1	164.005152	40	42	0.412214	1	0	0	0	0	1	0	0	0	--	--		0	G			PLS1_uc003euz.2_Missense_Mutation_p.L304R|PLS1_uc003eva.2_Missense_Mutation_p.L304R	54	GBM-06-0237-TP	p.L304R	T	TATTTTCATCTGCTTAATCAG	NM_001145319	NP_001138791	142405148	Q14651	PLSI_HUMAN	0			9	1070	+	G	G			Missense_Mutation	304			Actin-binding 1.|CH 2.			
PLS1	5357	broad.mit.edu	GRCh37	3	142383125	142383125	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0686-01	TCGA-06-0686-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337777.3:c.46C>G	p.Leu16Val	p.L16V	ENST00000337777	NM_002670.2	16	Cta/Gta	0			1			G	L/V	uc010huv.2	protein_coding	YES	CCDS3125.1			46/1890									ovary(1)	1	c.(46-48)CTA>GTA			Gene3D:1.10.238.10,Pfam_domain:PF13499,PROSITE_profiles:PS50222,hmmpanther:PTHR19961,hmmpanther:PTHR19961:SF27,SMART_domains:SM00054,Superfamily_domains:SSF47473	plastin 1				ENSP00000336831		16-Feb									COSM3408298	16-Feb	.		ENST00000337777	Transcript				cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	ENSG00000120756	g.chr3:142383125C>G	9090			MODERATE		2.735	medium	getma.org/?cm=msa&ty=f&p=PLSI_HUMAN&rb=15&re=46&var=L16V	NA	getma.org/?cm=var&var=hg19,3,142383125,C,G&fts=all	L16V	--	--	1																																		PLS1_uc003euz.2_Missense_Mutation_p.L16V|PLS1_uc003eva.2_Missense_Mutation_p.L16V	1	1		benign(0.114)	p.L16V	NM_001145319	NP_001138791		tolerated(0.1)	1	PLSI_HUMAN	PLS1	HGNC	Q14651	PLSI_HUMAN			C9JYI1_HUMAN,C9JVY2_HUMAN,C9JU08_HUMAN,C9JAM8_HUMAN,C9JAM3_HUMAN,C9J359_HUMAN,C9J0F3_HUMAN		2	205	+			UPI000013D59A	16			EF-hand 1.		SNV	PLS1,missense_variant,p.Leu16Val,ENST00000337777,NM_002670.2;PLS1,missense_variant,p.Leu16Val,ENST00000457734,NM_001145319.1;PLS1,missense_variant,p.Leu16Val,ENST00000497002,NM_001172312.1;PLS1,missense_variant,p.Leu16Val,ENST00000497199,;PLS1,missense_variant,p.Leu16Val,ENST00000483373,;PLS1,missense_variant,p.Leu16Val,ENST00000475296,;PLS1,missense_variant,p.Leu16Val,ENST00000495744,;PLS1,missense_variant,p.Leu16Val,ENST00000461644,;PLS1,missense_variant,p.Leu16Val,ENST00000464320,;PLS1,intron_variant,,ENST00000476044,;PLS1,non_coding_transcript_exon_variant,,ENST00000460104,;	uc010huv.2	c.46C>G	259/3755	4	4			c.46C>G						3	SNP	c.(46-48)CTA>GTA	32	32			ovary(1)	1	Broad	plastin 1			142383125		0.333	ENSG00000120756	11909	g.chr3:142383125C>G		cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton							-19.274277	KEEP	3	0	-1	62	57	3	0	-1	7.279686	62	57	0.027778	1	0	0	0	0	1	0	0	0	--	--		0	G			PLS1_uc003euz.2_Missense_Mutation_p.L16V|PLS1_uc003eva.2_Missense_Mutation_p.L16V	64	GBM-06-0686-TP	p.L16V	C	GCTTGAAGAACTACAAGAGGC	NM_001145319	NP_001138791	142383125	Q14651	PLSI_HUMAN	0			2	205	+	G	G			Missense_Mutation	16			EF-hand 1.			
PLSCR2	0	broad.mit.edu	GRCh37	3	146177634	146177634	+	splice_donor_variant	Splice_Site	SNP	C	C	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000497985.1:c.276+1G>A		p.X92_splice	ENST00000497985	NM_001199978.1			0			1			T		uc003evv.1	protein_coding	YES	CCDS56284.1			276/894										0	c.e3+1				phospholipid scramblase 2				ENSP00000420132			8.24E-06			0.000116					rs766554394,COSM3408315,COSM3408314		.		ENST00000497985	Transcript			phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	ENSG00000163746	g.chr3:146177634C>T	16494			HIGH	9-Apr							--	--	1																																		PLSCR2_uc003evw.1_Splice_Site_p.Q88_splice	0,1,1	1			p.Q19_splice	NM_020359	NP_065092			0,1,1	PLS2_HUMAN	PLSCR2	HGNC	Q9NRY7	PLS2_HUMAN			C9J636_HUMAN		3	390	-			UPI0001B79690						SNV	PLSCR2,splice_donor_variant,,ENST00000497985,NM_001199978.1;PLSCR2,splice_donor_variant,,ENST00000336685,NM_001199979.1;PLSCR2,splice_donor_variant,,ENST00000489015,;PLSCR2,splice_donor_variant,,ENST00000463633,;	uc003evv.1	c.57_splice	-/1441	5	2			c.57_splice						3	SNP	c.e3+1	41	41				0	Broad	phospholipid scramblase 2			146177634		0.373	ENSG00000163746	11912	g.chr3:146177634C>T	phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity							-7.111211	KEEP	1	3	-1	44	23	1	3	-1	6.319005	44	23	0.048387	1	0	0	0	0	0	0	0	1	--	--		0	T			PLSCR2_uc003evw.1_Splice_Site_p.Q88_splice	177	GBM-19-5959-TP	p.Q19_splice	C	TTTGAAATTACCTGACTTAAG	NM_020359	NP_065092	146177634	Q9NRY7	PLS2_HUMAN	0			3	390	-	T	T			Splice_Site							
PLTP	5360		GRCh37	20	44528299	44528299	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000477313.1:c.1244A>G	p.Lys415Arg	p.K415R	ENST00000477313		415	aAg/aGg	0																																																																																																																																																																																																																																												
PLXDC1	0	broad.mit.edu	GRCh37	17	37265501	37265501	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T			TCGA-27-1835-01	TCGA-27-1835-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315392.4:c.399G>A	p.Ser133=	p.S133=	ENST00000315392	NM_020405.4	133	tcG/tcA	0			1			T	S	uc002hrg.2	protein_coding	YES	CCDS11333.1			399/1503									ovary(1)|kidney(1)|skin(1)	3	c.(397-399)TCG>TCA			hmmpanther:PTHR13055:SF10,hmmpanther:PTHR13055	plexin domain containing 1 precursor				ENSP00000323927		14-Mar	1.65E-05					3.24E-05			rs755210443,COSM978535	14-Mar	.		ENST00000315392	Transcript			angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		ENSG00000161381	g.chr17:37265501C>T	20945			LOW								--	--	1																																		PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA	0,1	1			p.S133S	NM_020405	NP_065138			0,1	PLDX1_HUMAN	PLXDC1	HGNC	Q8IUK5	PXDC1_HUMAN			J3QR40_HUMAN,C9JWQ3_HUMAN,C9JCL2_HUMAN		3	611	-			UPI0000049814	133			Extracellular (Potential).		SNV	PLXDC1,splice_region_variant,p.=,ENST00000315392,NM_020405.4;PLXDC1,splice_region_variant,p.=,ENST00000539608,;PLXDC1,splice_region_variant,p.=,ENST00000444911,;PLXDC1,splice_region_variant,p.=,ENST00000394316,;PLXDC1,splice_region_variant,p.=,ENST00000441877,;PLXDC1,splice_region_variant,p.=,ENST00000415163,;PLXDC1,splice_region_variant,p.=,ENST00000579190,;PLXDC1,upstream_gene_variant,,ENST00000579279,;PLXDC1,splice_region_variant,,ENST00000493200,;PLXDC1,splice_region_variant,,ENST00000580667,;PLXDC1,splice_region_variant,,ENST00000577838,;PLXDC1,non_coding_transcript_exon_variant,,ENST00000577941,;CTD-2206N4.4,intron_variant,,ENST00000578423,;CTD-2206N4.4,upstream_gene_variant,,ENST00000577328,;PLXDC1,upstream_gene_variant,,ENST00000444435,;PLXDC1,missense_variant,p.Glu94Lys,ENST00000578808,;PLXDC1,splice_region_variant,p.=,ENST00000578390,;PLXDC1,splice_region_variant,,ENST00000461225,;PLXDC1,splice_region_variant,,ENST00000394318,;PLXDC1,splice_region_variant,,ENST00000578517,;	uc002hrg.2	c.399G>A	611/6252	2	2			c.399G>A						17	SNP	c.(397-399)TCG>TCA	48	48			ovary(1)|kidney(1)|skin(1)	3	Broad	plexin domain containing 1 precursor			37265501		0.657	ENSG00000161381	11919	g.chr17:37265501C>T	angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction								24.498109	KEEP	4	6	-1	6	10	4	6	-1	24.51088	6	10	0.470588	1	0	0	0	0	0	0	1	0	--	--		0	T			PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA	194	GBM-27-1835-TP	p.S133S	C	GGGCACTCACCGAAGCCTGCC	NM_020405	NP_065138	37265501	Q8IUK5	PXDC1_HUMAN	0			3	611	-	T	T			Silent	133			Extracellular (Potential).			
PLXDC2	84898	broad.mit.edu	GRCh37	10	20466312	20466312	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0214-01	TCGA-06-0214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377252.4:c.1035C>G	p.Asn345Lys	p.N345K	ENST00000377252	NM_032812.7	345	aaC/aaG	0			1			G	N/K	uc001iqg.1	protein_coding	YES	CCDS7132.1			1035/1590									ovary(2)|central_nervous_system(1)|skin(1)	4	c.(1033-1035)AAC>AAG			Pfam_domain:PF01437,hmmpanther:PTHR13055,hmmpanther:PTHR13055:SF11,SMART_domains:SM00423	plexin domain containing 2 precursor				ENSP00000366460		14-Sep									COSM3397037	14-Sep	.		ENST00000377252	Transcript				integral to membrane		ENSG00000120594	g.chr10:20466312C>G	21013			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=PXDC2_HUMAN&rb=327&re=372&var=N345K	NA	getma.org/?cm=var&var=hg19,10,20466312,C,G&fts=all	N345K	--	--	1																																		PLXDC2_uc001iqh.1_Missense_Mutation_p.N296K|PLXDC2_uc009xkc.1_RNA	1	1		possibly_damaging(0.794)	p.N345K	NM_032812	NP_116201		deleterious(0.01)	1	PXDC2_HUMAN	PLXDC2	HGNC	Q6UX71	PXDC2_HUMAN					9	1672	+			UPI0000048F2C	345			Extracellular (Potential).|PSI.		SNV	PLXDC2,missense_variant,p.Asn345Lys,ENST00000377252,NM_032812.7;PLXDC2,missense_variant,p.Asn296Lys,ENST00000377242,NM_001282736.1;PLXDC2,non_coding_transcript_exon_variant,,ENST00000377238,;	uc001iqg.1	c.1035C>G	1876/12468	4	4			c.1035C>G						10	SNP	c.(1033-1035)AAC>AAG	29	29			ovary(2)|central_nervous_system(1)|skin(1)	4	Broad	plexin domain containing 2 precursor			20466312		0.294	ENSG00000120594	11920	g.chr10:20466312C>G		integral to membrane								193.495617	KEEP	28	38	-1	58	65	28	38	-1	197.168	58	65	0.343195	1	0	0	0	0	1	0	0	0	--	--		0	G			PLXDC2_uc001iqh.1_Missense_Mutation_p.N296K|PLXDC2_uc009xkc.1_RNA	50	GBM-06-0214-TP	p.N345K	C	TTGGCTTCAACTGCAGTTGGT	NM_032812	NP_116201	20466312	Q6UX71	PXDC2_HUMAN	0			9	1672	+	G	G			Missense_Mutation	345			Extracellular (Potential).|PSI.			
PLXDC2	0	broad.mit.edu	GRCh37	10	20453469	20453469	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01	TCGA-19-4068-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377252.4:c.856G>A	p.Val286Ile	p.V286I	ENST00000377252	NM_032812.7	286	Gtt/Att	0			1			A	V/I	uc001iqg.1	protein_coding	YES	CCDS7132.1			856/1590									ovary(2)|central_nervous_system(1)|skin(1)	4	c.(856-858)GTT>ATT			hmmpanther:PTHR13055,hmmpanther:PTHR13055:SF11	plexin domain containing 2 precursor				ENSP00000366460		14-Jul	3.30E-05			0.000237		3.01E-05			rs775360529,COSM1289341	14-Jul	.		ENST00000377252	Transcript				integral to membrane		ENSG00000120594	g.chr10:20453469G>A	21013			MODERATE		0.67	neutral	getma.org/?cm=msa&ty=f&p=PXDC2_HUMAN&rb=275&re=326&var=V286I	NA	getma.org/?cm=var&var=hg19,10,20453469,G,A&fts=all	V286I	--	--	1																																		PLXDC2_uc001iqh.1_Missense_Mutation_p.V237I|PLXDC2_uc009xkc.1_RNA	0,1	1		benign(0.426)	p.V286I	NM_032812	NP_116201		tolerated(0.32)	0,1	PXDC2_HUMAN	PLXDC2	HGNC	Q6UX71	PXDC2_HUMAN					7	1493	+			UPI0000048F2C	286			Extracellular (Potential).		SNV	PLXDC2,missense_variant,p.Val286Ile,ENST00000377252,NM_032812.7;PLXDC2,missense_variant,p.Val237Ile,ENST00000377242,NM_001282736.1;PLXDC2,non_coding_transcript_exon_variant,,ENST00000377238,;	uc001iqg.1	c.856G>A	1697/12468	1	1			c.856G>A						10	SNP	c.(856-858)GTT>ATT	62	62			ovary(2)|central_nervous_system(1)|skin(1)	4	Broad	plexin domain containing 2 precursor			20453469		0.443	ENSG00000120594	11920	g.chr10:20453469G>A		integral to membrane								-7.697257	KEEP	5	2	-1	64	36	5	2	-1	10.72951	64	36	0.05618	1	0	0	0	0	1	0	0	0	--	--		0	A			PLXDC2_uc001iqh.1_Missense_Mutation_p.V237I|PLXDC2_uc009xkc.1_RNA	168	GBM-19-4068-TP	p.V286I	G	TGCATTTGTCGTTGTCCACAG	NM_032812	NP_116201	20453469	Q6UX71	PXDC2_HUMAN	0			7	1493	+	A	A			Missense_Mutation	286			Extracellular (Potential).			
PLXNA1	0	broad.mit.edu	GRCh37	3	126733439	126733439	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs138171477		TCGA-19-5951-01	TCGA-19-5951-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393409.2:c.2723G>A	p.Ser908Asn	p.S908N	ENST00000393409	NM_032242.3	908	aGc/aAc	0	A:0		1			A	S/N	uc003ejg.2	protein_coding	YES	CCDS33847.2			2723/5691									ovary(1)|pancreas(1)|skin(1)	3	c.(2653-2655)AGC>AAC			hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF35,Gene3D:2.60.40.10,Pfam_domain:PF01833,SMART_domains:SM00429,Superfamily_domains:SSF81296	plexin A1			A:0.0001	ENSP00000377061		31-Dec									rs138171477,COSM2156656	31-Dec	.		ENST00000393409	Transcript			axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	ENSG00000114554	g.chr3:126733439G>A	9099			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=PLXA1_HUMAN&rb=864&re=958&var=S908N	getma.org/pdb.php?prot=PLXA1_HUMAN&from=864&to=958&var=S908N	getma.org/?cm=var&var=hg19,3,126733439,G,A&fts=all	S908N	--	--	1																																			0,1	1		benign(0.002)	p.S885N	NM_032242	NP_115618		tolerated(0.86)	0,1	PLXA1_HUMAN	PLXNA1	HGNC	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	Q9NSM6_HUMAN,F8VSZ4_HUMAN,B4DE20_HUMAN,B3KY38_HUMAN		12	2658	+			UPI00001A7983	908			IPT/TIG 1.|Extracellular (Potential).		SNV	PLXNA1,missense_variant,p.Ser885Asn,ENST00000251772,;PLXNA1,missense_variant,p.Ser908Asn,ENST00000393409,NM_032242.3;	uc003ejg.2	c.2654G>A	2723/9066	1	1			c.2654G>A						3	SNP	c.(2653-2655)AGC>AAC	57	57			ovary(1)|pancreas(1)|skin(1)	3	Broad	plexin A1			126733439		0.577	ENSG00000114554	11921	g.chr3:126733439G>A	axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity							145.193066	KEEP	28	30	-1	40	40	28	30	-1	145.892902	40	40	0.415929	1	0	0	0	0	1	0	0	0	--	--		0	A				171	GBM-19-5951-TP	p.S885N	G	GTGCTGTGCAGCCCTGTGGAG	NM_032242	NP_115618	126733439	Q9UIW2	PLXA1_HUMAN	0		GBM - Glioblastoma multiforme(114;0.155)	12	2658	+	A	A			Missense_Mutation	908			IPT/TIG 1.|Extracellular (Potential).			
PLXNA2	5362		GRCh37	1	208269395	208269395	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000367033.3:c.1961A>C	p.Tyr654Ser	p.Y654S	ENST00000367033	NM_025179.3	654	tAc/tCc	0																																																																																																																																																																																																																																												
PLXNA3	0	broad.mit.edu	GRCh37	X	153694763	153694763	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369682.3:c.2844C>T	p.Ser948=	p.S948=	ENST00000369682	NM_017514.3	948	tcC/tcT	0			1			T	S	uc004flm.2	protein_coding	YES	CCDS14752.1			2844/5616									upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	c.(2842-2844)TCC>TCT			hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF32,Gene3D:2.60.40.10,Pfam_domain:PF01833,SMART_domains:SM00429,Superfamily_domains:SSF81296	plexin A3 precursor				ENSP00000358696		16/33									rs199634043,COSM2154309	16/33	.		ENST00000369682	Transcript			axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	ENSG00000130827	g.chrX:153694763C>T	9101			LOW								--	--	1																																			0,1	1			p.S948S	NM_017514	NP_059984			0,1	PLXA3_HUMAN	PLXNA3	HGNC	P51805	PLXA3_HUMAN					16	3017	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		UPI000004E900	948			IPT/TIG 2.|Extracellular (Potential).		SNV	PLXNA3,synonymous_variant,p.=,ENST00000369682,NM_017514.3;PLXNA3,non_coding_transcript_exon_variant,,ENST00000467463,;PLXNA3,upstream_gene_variant,,ENST00000493546,;PLXNA3,upstream_gene_variant,,ENST00000480645,;PLXNA3,non_coding_transcript_exon_variant,,ENST00000478236,;PLXNA3,upstream_gene_variant,,ENST00000497802,;PLXNA3,upstream_gene_variant,,ENST00000491066,;PLXNA3,downstream_gene_variant,,ENST00000482598,;	uc004flm.2	c.2844C>T	3019/6752	1	1			c.2844C>T						23	SNP	c.(2842-2844)TCC>TCT	16	16			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Broad	plexin A3 precursor			153694763		0.672	ENSG00000130827	11923	g.chrX:153694763C>T	axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity							342.427813	KEEP	76	54	-1	98	99	76	54	-1	345.283126	98	99	0.392226	1	0	0	0	0	0	0	1	0	--	--		0	T				122	GBM-12-0692-TP	p.S948S	C	GCCCGGCGTCCGGGGGCACAC	NM_017514	NP_059984	153694763	P51805	PLXA3_HUMAN	0			16	3017	+	T	T	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		Silent	948			IPT/TIG 2.|Extracellular (Potential).			
PLXNA4	0	broad.mit.edu	GRCh37	7	131872333	131872333	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01	TCGA-12-0619-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321063.4:c.2890G>A	p.Gly964Arg	p.G964R	ENST00000321063	NM_020911.1	964	Ggg/Agg	0			1			T	G/R	uc003vra.3	protein_coding		CCDS43646.1			2890/5685									ovary(1)	1	c.(2890-2892)GGG>AGG			hmmpanther:PTHR22625:SF34,hmmpanther:PTHR22625,Gene3D:2.60.40.10,Pfam_domain:PF01833,SMART_domains:SM00429,Superfamily_domains:SSF81296	plexin A4 isoform 1				ENSP00000323194		15/32									COSM2153634,COSM2153633	15/32	.		ENST00000321063	Transcript				integral to membrane|intracellular|plasma membrane		ENSG00000221866	g.chr7:131872333C>T	9102			MODERATE		3.46	medium	getma.org/?cm=msa&ty=f&p=PLXA4_HUMAN&rb=954&re=1036&var=G964R	getma.org/pdb.php?prot=PLXA4_HUMAN&from=954&to=1036&var=G964R	getma.org/?cm=var&var=hg19,7,131872333,C,T&fts=all	G964R	--	--	1																																			1,1			probably_damaging(1)	p.G964R	NM_020911	NP_065962		deleterious(0)	1,1	PLXA4_HUMAN	PLXNA4	HGNC	Q9HCM2	PLXA4_HUMAN					15	3119	-			UPI000004E55B	964			IPT/TIG 2.|Extracellular (Potential).		SNV	PLXNA4,missense_variant,p.Gly964Arg,ENST00000359827,;PLXNA4,missense_variant,p.Gly964Arg,ENST00000321063,NM_020911.1;	uc003vra.3	c.2890G>A	3119/13061	1	1			c.2890G>A						7	SNP	c.(2890-2892)GGG>AGG	3	3			ovary(1)	1	Broad	plexin A4 isoform 1			131872333		0.587	ENSG00000221866	11924	g.chr7:131872333C>T		integral to membrane|intracellular|plasma membrane								352.128299	KEEP	75	88	-1	317	291	75	88	-1	403.09061	317	291	0.21203	1	0	0	0	0	1	0	0	0	--	--		0	T				120	GBM-12-0619-TP	p.G964R	C	GACATGGGCCCCCGGCTGGGC	NM_020911	NP_065962	131872333	Q9HCM2	PLXA4_HUMAN	0			15	3119	-	T	T			Missense_Mutation	964			IPT/TIG 2.|Extracellular (Potential).			
PLXNA4	0	broad.mit.edu	GRCh37	7	131887591	131887591	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-12-3653-01	TCGA-12-3653-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321063.4:c.2400C>A	p.His800Gln	p.H800Q	ENST00000321063	NM_020911.1	800	caC/caA	0			1			T	H/Q	uc003vra.3	protein_coding		CCDS43646.1			2400/5685									ovary(1)	1	c.(2398-2400)CAC>CAA			hmmpanther:PTHR22625:SF34,hmmpanther:PTHR22625	plexin A4 isoform 1				ENSP00000323194		Dec-32									COSM3411596,COSM3411597	Dec-32	.		ENST00000321063	Transcript				integral to membrane|intracellular|plasma membrane		ENSG00000221866	g.chr7:131887591G>T	9102			MODERATE		2.595	medium	getma.org/?cm=msa&ty=f&p=PLXA4_HUMAN&rb=703&re=802&var=H800Q	NA	getma.org/?cm=var&var=hg19,7,131887591,G,T&fts=all	H800Q	--	--	1																																			1,1			probably_damaging(0.996)	p.H800Q	NM_020911	NP_065962		tolerated(0.08)	1,1	PLXA4_HUMAN	PLXNA4	HGNC	Q9HCM2	PLXA4_HUMAN					12	2629	-			UPI000004E55B	800			Extracellular (Potential).		SNV	PLXNA4,missense_variant,p.His800Gln,ENST00000359827,;PLXNA4,missense_variant,p.His800Gln,ENST00000321063,NM_020911.1;	uc003vra.3	c.2400C>A	2629/13061	1	1			c.2400C>A						7	SNP	c.(2398-2400)CAC>CAA	6	6			ovary(1)	1	Broad	plexin A4 isoform 1			131887591		0.632	ENSG00000221866	11924	g.chr7:131887591G>T		integral to membrane|intracellular|plasma membrane								1.196217	KEEP	0	3	-1	14	19	0	3	-1	7.286537	14	19	0.085714	1	0	0	0	0	1	0	0	0	--	--		0	T				128	GBM-12-3653-TP	p.H800Q	G	ACTTGTAGAGGTGAACTGCAG	NM_020911	NP_065962	131887591	Q9HCM2	PLXA4_HUMAN	0			12	2629	-	T	T			Missense_Mutation	800			Extracellular (Potential).			
PLXNA4	0	broad.mit.edu	GRCh37	7	131872361	131872361	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0787-01	TCGA-14-0787-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321063.4:c.2862G>A	p.Leu954=	p.L954=	ENST00000321063	NM_020911.1	954	ctG/ctA	0			1			T	L	uc003vra.3	protein_coding		CCDS43646.1			2862/5685									ovary(1)	1	c.(2860-2862)CTG>CTA			hmmpanther:PTHR22625:SF34,hmmpanther:PTHR22625,Gene3D:2.60.40.10,SMART_domains:SM00429,Superfamily_domains:SSF81296	plexin A4 isoform 1				ENSP00000323194		15/32									COSM3411594,COSM3411595	15/32	.		ENST00000321063	Transcript				integral to membrane|intracellular|plasma membrane		ENSG00000221866	g.chr7:131872361C>T	9102			LOW								--	--	1																																			1,1				p.L954L	NM_020911	NP_065962			1,1	PLXA4_HUMAN	PLXNA4	HGNC	Q9HCM2	PLXA4_HUMAN					15	3091	-			UPI000004E55B	954			IPT/TIG 2.|Extracellular (Potential).		SNV	PLXNA4,synonymous_variant,p.=,ENST00000359827,;PLXNA4,synonymous_variant,p.=,ENST00000321063,NM_020911.1;	uc003vra.3	c.2862G>A	3091/13061	2	2			c.2862G>A						7	SNP	c.(2860-2862)CTG>CTA	20	20			ovary(1)	1	Broad	plexin A4 isoform 1			131872361		0.617	ENSG00000221866	11924	g.chr7:131872361C>T		integral to membrane|intracellular|plasma membrane								-147.356351	KEEP	6	2	-1	348	289	6	2	-1	9.010056	348	289	0.013793	1	0	0	0	0	0	0	1	0	--	--		0	T				135	GBM-14-0787-TP	p.L954L	C	CTGAGAGAGTCAGTGTCTGTG	NM_020911	NP_065962	131872361	Q9HCM2	PLXA4_HUMAN	0			15	3091	-	T	T			Silent	954			IPT/TIG 2.|Extracellular (Potential).			
PLXNA4	0	broad.mit.edu	GRCh37	7	131883269	131883269	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01	TCGA-26-6174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321063.4:c.2713G>A	p.Val905Met	p.V905M	ENST00000321063	NM_020911.1	905	Gtg/Atg	0			1			T	V/M	uc003vra.3	protein_coding		CCDS43646.1			2713/5685									ovary(1)	1	c.(2713-2715)GTG>ATG			hmmpanther:PTHR22625:SF34,hmmpanther:PTHR22625,Gene3D:2.60.40.10,Pfam_domain:PF01833,SMART_domains:SM00429,Superfamily_domains:SSF81296	plexin A4 isoform 1				ENSP00000323194		13/32									COSM304259,COSM304260	13/32	.		ENST00000321063	Transcript				integral to membrane|intracellular|plasma membrane		ENSG00000221866	g.chr7:131883269C>T	9102			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=PLXA4_HUMAN&rb=858&re=951&var=V905M	getma.org/pdb.php?prot=PLXA4_HUMAN&from=858&to=951&var=V905M	getma.org/?cm=var&var=hg19,7,131883269,C,T&fts=all	V905M	--	--	1																																			1,1			possibly_damaging(0.592)	p.V905M	NM_020911	NP_065962		deleterious(0.02)	1,1	PLXA4_HUMAN	PLXNA4	HGNC	Q9HCM2	PLXA4_HUMAN					13	2942	-			UPI000004E55B	905			IPT/TIG 1.|Extracellular (Potential).		SNV	PLXNA4,missense_variant,p.Val905Met,ENST00000359827,;PLXNA4,missense_variant,p.Val905Met,ENST00000321063,NM_020911.1;	uc003vra.3	c.2713G>A	2942/13061	2	2			c.2713G>A						7	SNP	c.(2713-2715)GTG>ATG	22	22			ovary(1)	1	Broad	plexin A4 isoform 1			131883269		0.562	ENSG00000221866	11924	g.chr7:131883269C>T		integral to membrane|intracellular|plasma membrane								28.327306	KEEP	10	9	-1	54	49	10	9	-1	40.933103	54	49	0.149533	1	0	0	0	0	1	0	0	0	--	--		0	T				188	GBM-26-6174-TP	p.V905M	C	TAACCATCCACTAAAGGGCTG	NM_020911	NP_065962	131883269	Q9HCM2	PLXA4_HUMAN	0			13	2942	-	T	T			Missense_Mutation	905			IPT/TIG 1.|Extracellular (Potential).			
PLXNA4	0	broad.mit.edu	GRCh37	7	131859666	131859666	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-5207-01	TCGA-28-5207-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321063.4:c.3888G>A	p.Leu1296=	p.L1296=	ENST00000321063	NM_020911.1	1296	ctG/ctA	0			1			T	L	uc003vra.3	protein_coding		CCDS43646.1			3888/5685									ovary(1)	1	c.(3886-3888)CTG>CTA			hmmpanther:PTHR22625:SF34,hmmpanther:PTHR22625	plexin A4 isoform 1				ENSP00000323194		21/32									COSM2157331,COSM2157330	21/32	.		ENST00000321063	Transcript				integral to membrane|intracellular|plasma membrane		ENSG00000221866	g.chr7:131859666C>T	9102			LOW								--	--	1																																			1,1				p.L1296L	NM_020911	NP_065962			1,1	PLXA4_HUMAN	PLXNA4	HGNC	Q9HCM2	PLXA4_HUMAN					21	4117	-			UPI000004E55B	1296			Cytoplasmic (Potential).		SNV	PLXNA4,synonymous_variant,p.=,ENST00000359827,;PLXNA4,synonymous_variant,p.=,ENST00000321063,NM_020911.1;	uc003vra.3	c.3888G>A	4117/13061	2	2			c.3888G>A						7	SNP	c.(3886-3888)CTG>CTA	17	17			ovary(1)	1	Broad	plexin A4 isoform 1			131859666		0.562	ENSG00000221866	11924	g.chr7:131859666C>T		integral to membrane|intracellular|plasma membrane								164.86302	KEEP	31	40	-1	85	69	31	40	-1	169.995824	85	69	0.33	1	0	0	0	0	0	0	1	0	--	--		0	T				216	GBM-28-5207-TP	p.L1296L	C	TGTCCGTCTGCAGCTCGGCAA	NM_020911	NP_065962	131859666	Q9HCM2	PLXA4_HUMAN	0			21	4117	-	T	T			Silent	1296			Cytoplasmic (Potential).			
PLXNA4	0	broad.mit.edu	GRCh37	7	131817922	131817922	+	synonymous_variant	Silent	SNP	G	G	A	rs114567124	by1000genomes	TCGA-76-4928-01	TCGA-76-4928-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321063.4:c.5475C>T	p.Ser1825=	p.S1825=	ENST00000321063	NM_020911.1	1825	agC/agT	0		A:0.0008	1	A:0.0014		A	S	uc003vra.3	protein_coding		CCDS43646.1			5475/5685									ovary(1)	1	c.(5473-5475)AGC>AGT			hmmpanther:PTHR22625:SF34,hmmpanther:PTHR22625,Pfam_domain:PF08337,Superfamily_domains:SSF48350	plexin A4 isoform 1		A:0		ENSP00000323194	A:0	31/32	4.94E-05	0.000203	8.64E-05			4.50E-05			rs114567124,COSM3411590,COSM3411591	31/32	.		ENST00000321063	Transcript		A:0.0004		integral to membrane|intracellular|plasma membrane		ENSG00000221866	g.chr7:131817922G>A	9102			LOW								--	--	1																																		PLXNA4_uc003vqz.3_Silent_p.S110S	0,1,1				p.S1825S	NM_020911	NP_065962	A:0		0,1,1	PLXA4_HUMAN	PLXNA4	HGNC	Q9HCM2	PLXA4_HUMAN					31	5704	-			UPI000004E55B	1825			Cytoplasmic (Potential).		SNV	PLXNA4,synonymous_variant,p.=,ENST00000359827,;PLXNA4,synonymous_variant,p.=,ENST00000321063,NM_020911.1;	uc003vra.3	c.5475C>T	5704/13061	1	1			c.5475C>T						7	SNP	c.(5473-5475)AGC>AGT	50	50			ovary(1)	1	Broad	plexin A4 isoform 1			131817922		0.507	ENSG00000221866	11924	g.chr7:131817922G>A		integral to membrane|intracellular|plasma membrane								88.274754	KEEP	21	33	-1	95	121	21	33	-1	106.69399	95	121	0.2	1	0	0	0	0	0	0	1	0	--	--		0	A			PLXNA4_uc003vqz.3_Silent_p.S110S	268	GBM-76-4928-TP	p.S1825S	G	TGTCTTGGTCGCTGATGGCTG	NM_020911	NP_065962	131817922	Q9HCM2	PLXA4_HUMAN	0			31	5704	-	A	A			Silent	1825			Cytoplasmic (Potential).			
PLXNA4	0	broad.mit.edu	GRCh37	7	131982916	131982916	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-76-6193-01	TCGA-76-6193-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321063.4:c.1437C>A	p.Gly479=	p.G479=	ENST00000321063	NM_020911.1	479	ggC/ggA	0			1			T	G	uc003vra.3	protein_coding		CCDS43646.1			1437/5685									ovary(1)	1	c.(1435-1437)GGC>GGA			PROSITE_profiles:PS51004,hmmpanther:PTHR22625:SF34,hmmpanther:PTHR22625,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	plexin A4 isoform 1				ENSP00000323194		Apr-32									COSM3411598,COSM3411599	Apr-32	.		ENST00000321063	Transcript				integral to membrane|intracellular|plasma membrane		ENSG00000221866	g.chr7:131982916G>T	9102			LOW								--	--	1																																			1,1				p.G479G	NM_020911	NP_065962			1,1	PLXA4_HUMAN	PLXNA4	HGNC	Q9HCM2	PLXA4_HUMAN					4	1666	-			UPI000004E55B	479			Extracellular (Potential).|Sema.		SNV	PLXNA4,synonymous_variant,p.=,ENST00000359827,;PLXNA4,synonymous_variant,p.=,ENST00000321063,NM_020911.1;	uc003vra.3	c.1437C>A	1666/13061	1	1			c.1437C>A						7	SNP	c.(1435-1437)GGC>GGA	2	2			ovary(1)	1	Broad	plexin A4 isoform 1			131982916		0.582	ENSG00000221866	11924	g.chr7:131982916G>T		integral to membrane|intracellular|plasma membrane								29.711282	KEEP	7	9	0.4375	28	33	7	9	0.4375	35.570824	28	33	0.2	1	0	0	0	0	0	0	1	0	--	--		0	T				276	GBM-76-6193-TP	p.G479G	G	GGAGGACTGGGCCGGGGTCCA	NM_020911	NP_065962	131982916	Q9HCM2	PLXA4_HUMAN	0			4	1666	-	T	T			Silent	479			Extracellular (Potential).|Sema.			
PLXNA4	91584		GRCh37	7	131865369	131865369	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000359827.3:c.3615C>T	p.Asn1205=	p.N1205=	ENST00000359827		1205	aaC/aaT	0																																																																																																																																																																																																																																												
PLXNB1	5364	broad.mit.edu	GRCh37	3	48463528	48463528	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358536.4:c.1506C>T	p.Cys502=	p.C502=	ENST00000358536	NM_002673.4	502	tgC/tgT	0			1			A	C	uc003csw.2	protein_coding		CCDS2765.1			1506/6408									ovary(2)|pancreas(1)|breast(1)|skin(1)	5	c.(1504-1506)TGC>TGT			hmmpanther:PTHR22625:SF36,hmmpanther:PTHR22625,Pfam_domain:PF01437,Gene3D:3.30.1680.10,SMART_domains:SM00423,Superfamily_domains:SSF103575	plexin B1 precursor				ENSP00000296440		Jun-38									COSM3408716	Jun-38	.		ENST00000296440	Transcript			axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	ENSG00000164050	g.chr3:48463528G>A	9103			LOW								--	--	1																																		PLXNB1_uc003csu.2_Silent_p.C502C|PLXNB1_uc003csx.2_Silent_p.C502C|PLXNB1_uc010hjx.1_RNA	1				p.C502C	NM_002673	NP_002664			1	PLXB1_HUMAN	PLXNB1	HGNC	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	G8JLJ7_HUMAN,B3KRL1_HUMAN		6	1776	-			UPI0000038131	502			Extracellular (Potential).		SNV	PLXNB1,synonymous_variant,p.=,ENST00000358536,NM_002673.4;PLXNB1,synonymous_variant,p.=,ENST00000296440,NM_001130082.1;PLXNB1,synonymous_variant,p.=,ENST00000358459,;PLXNB1,synonymous_variant,p.=,ENST00000456774,;PLXNB1,intron_variant,,ENST00000448774,;PLXNB1,intron_variant,,ENST00000466353,;PLXNB1,upstream_gene_variant,,ENST00000484485,;PLXNB1,downstream_gene_variant,,ENST00000473683,;PLXNB1,synonymous_variant,p.=,ENST00000449094,;PLXNB1,upstream_gene_variant,,ENST00000462738,;	uc003csw.2	c.1506C>T	1609/7143	2	2			c.1506C>T						3	SNP	c.(1504-1506)TGC>TGT	39	39			ovary(2)|pancreas(1)|breast(1)|skin(1)	5	Broad	plexin B1 precursor			48463528		0.557	ENSG00000164050	11925	g.chr3:48463528G>A	axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding							105.413928	KEEP	16	28	-1	23	30	16	28	-1	105.517176	23	30	0.460526	1	0	0	0	0	0	0	1	0	--	--		0	A			PLXNB1_uc003csu.2_Silent_p.C502C|PLXNB1_uc003csx.2_Silent_p.C502C|PLXNB1_uc010hjx.1_RNA	8	GBM-02-2486-TP	p.C502C	G	CAAGGAGCACGCACCACCCAC	NM_002673	NP_002664	48463528	O43157	PLXB1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	6	1776	-	A	A			Silent	502			Extracellular (Potential).			
PLXNB1	0	broad.mit.edu	GRCh37	3	48462792	48462792	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C			TCGA-16-1045-01	TCGA-16-1045-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296440.6:c.1655T>G	p.Val552Gly	p.V552G	ENST00000296440	NM_001130082.1	552	gTt/gGt	0			1			C	V/G	uc003csw.2	protein_coding		CCDS2765.1			1655/6408									ovary(2)|pancreas(1)|breast(1)|skin(1)	5	c.(1654-1656)GTT>GGT			hmmpanther:PTHR22625:SF36,hmmpanther:PTHR22625	plexin B1 precursor				ENSP00000296440		Aug-38	1.66E-05					1.59E-05			rs765092255,COSM3070298	Aug-38	.		ENST00000296440	Transcript			axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	ENSG00000164050	g.chr3:48462792A>C	9103			MODERATE		2.285	medium	getma.org/?cm=msa&ty=f&p=PLXB1_HUMAN&rb=530&re=682&var=V552G	getma.org/pdb.php?prot=PLXB1_HUMAN&from=530&to=682&var=V552G	getma.org/?cm=var&var=hg19,3,48462792,A,C&fts=all	V552G	--	--	1																																		PLXNB1_uc003csu.2_Missense_Mutation_p.V552G|PLXNB1_uc003csx.2_Missense_Mutation_p.V552G|PLXNB1_uc010hjx.1_RNA	0,1			benign(0.386)	p.V552G	NM_002673	NP_002664		deleterious(0)	0,1	PLXB1_HUMAN	PLXNB1	HGNC	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	G8JLJ7_HUMAN,B3KRL1_HUMAN		8	1925	-			UPI0000038131	552			Extracellular (Potential).		SNV	PLXNB1,missense_variant,p.Val552Gly,ENST00000358536,NM_002673.4;PLXNB1,missense_variant,p.Val552Gly,ENST00000296440,NM_001130082.1;PLXNB1,missense_variant,p.Val552Gly,ENST00000358459,;PLXNB1,missense_variant,p.Val552Gly,ENST00000456774,;PLXNB1,intron_variant,,ENST00000448774,;PLXNB1,intron_variant,,ENST00000466353,;PLXNB1,upstream_gene_variant,,ENST00000484485,;PLXNB1,downstream_gene_variant,,ENST00000473683,;PLXNB1,missense_variant,p.Val552Gly,ENST00000449094,;PLXNB1,upstream_gene_variant,,ENST00000464294,;PLXNB1,upstream_gene_variant,,ENST00000462738,;	uc003csw.2	c.1655T>G	1758/7143	4	4			c.1655T>G						3	SNP	c.(1654-1656)GTT>GGT	44	44			ovary(2)|pancreas(1)|breast(1)|skin(1)	5	Broad	plexin B1 precursor			48462792		0.577	ENSG00000164050	11925	g.chr3:48462792A>C	axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding							-9.815957	KEEP	11	10	-1	53	61	11	10	-1	6.88542	53	61	0.092784	1	0	0	0	0	1	0	0	0	--	--		0	C			PLXNB1_uc003csu.2_Missense_Mutation_p.V552G|PLXNB1_uc003csx.2_Missense_Mutation_p.V552G|PLXNB1_uc010hjx.1_RNA	157	GBM-16-1045-TP	p.V552G	A	TGATAGGAAAACCTGCCAAGA	NM_002673	NP_002664	48462792	O43157	PLXB1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	8	1925	-	C	C			Missense_Mutation	552			Extracellular (Potential).			
PLXNB3	5365	broad.mit.edu	GRCh37	X	153033730	153033730	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0241-01	TCGA-06-0241-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000538966.1:c.1182C>T	p.Gly394=	p.G394=	ENST00000538966	NM_001163257.1	394	ggC/ggT	0		T:0	1	T:0		T	G	uc004fii.2	protein_coding		CCDS14729.1			1113/5730									lung(1)	1	c.(1111-1113)GGC>GGT			Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF33,SMART_domains:SM00630,Superfamily_domains:SSF101912	plexin B3 isoform 1		T:0		ENSP00000355378	T:0	Apr-36	4.95E-05					2.22E-05		0.000404	rs782813775,COSM2151127,COSM3406115,COSM2151126	Apr-36	common_variant		ENST00000361971	Transcript		T:0.0005	axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	ENSG00000198753	g.chrX:153033730C>T	9105			LOW								--	--	1																																		PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.1_Silent_p.G53G|PLXNB3_uc010nuk.2_Silent_p.G394G|PLXNB3_uc011mzd.1_Silent_p.G10G	0,1,1,1				p.G371G	NM_005393	NP_005384	T:0.002		0,1,1,1	PLXB3_HUMAN	PLXNB3	HGNC	Q9ULL4	PLXB3_HUMAN					4	1287	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		UPI000007256A	371			Extracellular (Potential).|Sema.		SNV	PLXNB3,synonymous_variant,p.=,ENST00000538966,NM_001163257.1;PLXNB3,synonymous_variant,p.=,ENST00000361971,NM_005393.2;PLXNB3,synonymous_variant,p.=,ENST00000538776,;PLXNB3,synonymous_variant,p.=,ENST00000538282,;PLXNB3,intron_variant,,ENST00000538543,;U52111.14,upstream_gene_variant,,ENST00000434284,;U52111.14,upstream_gene_variant,,ENST00000416854,;	uc004fii.2	c.1113C>T	1227/6146	2	2			c.1113C>T						23	SNP	c.(1111-1113)GGC>GGT	29	29			lung(1)	1	Broad	plexin B3 isoform 1			153033730		0.687	ENSG00000198753	11927	g.chrX:153033730C>T	axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity							147.516529	KEEP	39	26	-1	43	44	39	26	-1	148.264534	43	44	0.418605	1	0	0	0	0	0	0	1	0	--	--		0	T			PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.1_Silent_p.G53G|PLXNB3_uc010nuk.2_Silent_p.G394G|PLXNB3_uc011mzd.1_Silent_p.G10G	57	GBM-06-0241-TP	p.G371G	C	ACCCCTGTGGCGACGAGCACA	NM_005393	NP_005384	153033730	Q9ULL4	PLXB3_HUMAN	0			4	1287	+	T	T	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		Silent	371			Extracellular (Potential).|Sema.			
PLXNB3	0	broad.mit.edu	GRCh37	X	153033075	153033075	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361971.5:c.793C>T	p.Arg265Cys	p.R265C	ENST00000361971	NM_005393.2	265	Cgc/Tgc	0			1			T	R/C	uc004fii.2	protein_coding		CCDS14729.1			793/5730									lung(1)	1	c.(793-795)CGC>TGC			Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF33,SMART_domains:SM00630,Superfamily_domains:SSF101912	plexin B3 isoform 1				ENSP00000355378		Mar-36									COSM3406111,COSM3406110	Mar-36	.		ENST00000361971	Transcript			axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	ENSG00000198753	g.chrX:153033075C>T	9105			MODERATE		2.96	medium	getma.org/?cm=msa&ty=f&p=PLXB3_HUMAN&rb=54&re=451&var=R265C	getma.org/pdb.php?prot=PLXB3_HUMAN&from=54&to=451&var=R265C	getma.org/?cm=var&var=hg19,X,153033075,C,T&fts=all	R265C	--	--	1																																		PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.1_Intron|PLXNB3_uc010nuk.2_Missense_Mutation_p.R288C|PLXNB3_uc011mzd.1_Intron	1,1			probably_damaging(0.995)	p.R265C	NM_005393	NP_005384		deleterious(0)	1,1	PLXB3_HUMAN	PLXNB3	HGNC	Q9ULL4	PLXB3_HUMAN					3	967	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		UPI000007256A	265			Extracellular (Potential).|Sema.		SNV	PLXNB3,missense_variant,p.Arg288Cys,ENST00000538966,NM_001163257.1;PLXNB3,missense_variant,p.Arg265Cys,ENST00000361971,NM_005393.2;PLXNB3,intron_variant,,ENST00000538776,;PLXNB3,intron_variant,,ENST00000538282,;PLXNB3,intron_variant,,ENST00000538543,;U52111.14,upstream_gene_variant,,ENST00000434284,;U52111.14,upstream_gene_variant,,ENST00000416854,;	uc004fii.2	c.793C>T	907/6146	1	1			c.793C>T						23	SNP	c.(793-795)CGC>TGC	16	16			lung(1)	1	Broad	plexin B3 isoform 1			153033075		0.607	ENSG00000198753	11927	g.chrX:153033075C>T	axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity							18.346793	KEEP	2	4	-1	5	7	2	4	-1	18.788208	5	7	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	T			PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.1_Intron|PLXNB3_uc010nuk.2_Missense_Mutation_p.R288C|PLXNB3_uc011mzd.1_Intron	122	GBM-12-0692-TP	p.R265C	C	CTACGTGGCCCGCGTCTGCCT	NM_005393	NP_005384	153033075	Q9ULL4	PLXB3_HUMAN	0			3	967	+	T	T	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	265			Extracellular (Potential).|Sema.			
PLXNB3	0	broad.mit.edu	GRCh37	X	153033712	153033712	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361971.5:c.1095C>T	p.Pro365=	p.P365=	ENST00000361971	NM_005393.2	365	ccC/ccT	0	T:0	T:0	1	T:0		T	P	uc004fii.2	protein_coding		CCDS14729.1			1095/5730									lung(1)	1	c.(1093-1095)CCC>CCT			Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF33,SMART_domains:SM00630,Superfamily_domains:SSF101912	plexin B3 isoform 1		T:0	T:0.0001	ENSP00000355378	T:0	Apr-36	0.000181		0.000653		0.000442	0.000135	0.00185	0.000154	rs367873902,COSM3406113,COSM3406114,COSM3406112	Apr-36	common_variant		ENST00000361971	Transcript		T:0.0003	axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	ENSG00000198753	g.chrX:153033712C>T	9105			LOW								--	--	1																																		PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.1_Silent_p.P47P|PLXNB3_uc010nuk.2_Silent_p.P388P|PLXNB3_uc011mzd.1_Silent_p.P4P	0,1,1,1				p.P365P	NM_005393	NP_005384	T:0.001		0,1,1,1	PLXB3_HUMAN	PLXNB3	HGNC	Q9ULL4	PLXB3_HUMAN					4	1269	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		UPI000007256A	365			Extracellular (Potential).|Sema.		SNV	PLXNB3,synonymous_variant,p.=,ENST00000538966,NM_001163257.1;PLXNB3,synonymous_variant,p.=,ENST00000361971,NM_005393.2;PLXNB3,synonymous_variant,p.=,ENST00000538776,;PLXNB3,synonymous_variant,p.=,ENST00000538282,;PLXNB3,intron_variant,,ENST00000538543,;U52111.14,upstream_gene_variant,,ENST00000434284,;U52111.14,upstream_gene_variant,,ENST00000416854,;	uc004fii.2	c.1095C>T	1209/6146	2	2			c.1095C>T						23	SNP	c.(1093-1095)CCC>CCT	30	30			lung(1)	1	Broad	plexin B3 isoform 1			153033712		0.687	ENSG00000198753	11927	g.chrX:153033712C>T	axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity							57.876893	KEEP	15	13	-1	58	41	15	13	-1	65.318549	58	41	0.221154	1	0	0	0	0	0	0	1	0	--	--		0	T			PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.1_Silent_p.P47P|PLXNB3_uc010nuk.2_Silent_p.P388P|PLXNB3_uc011mzd.1_Silent_p.P4P	159	GBM-19-1390-TP	p.P365P	C	AGGATTCCCCCGAGTCGTACC	NM_005393	NP_005384	153033712	Q9ULL4	PLXB3_HUMAN	0			4	1269	+	T	T	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		Silent	365			Extracellular (Potential).|Sema.			
PLXNB3	0	broad.mit.edu	GRCh37	X	153032873	153032873	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5209-01	TCGA-28-5209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361971.5:c.591G>A	p.Ser197=	p.S197=	ENST00000361971	NM_005393.2	197	tcG/tcA	0		A:0	1	A:0		A	S	uc004fii.2	protein_coding		CCDS14729.1			591/5730									lung(1)	1	c.(589-591)TCG>TCA			Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF33,SMART_domains:SM00630,Superfamily_domains:SSF101912	plexin B3 isoform 1		A:0.001		ENSP00000355378	A:0	Mar-36	3.38E-05			0.000493		4.12E-05			rs782468929,COSM3406109,COSM3406108	Mar-36	common_variant		ENST00000361971	Transcript		A:0.0003	axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	ENSG00000198753	g.chrX:153032873G>A	9105			LOW								--	--	1																																		PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.1_Intron|PLXNB3_uc010nuk.2_Silent_p.S220S|PLXNB3_uc011mzd.1_Intron	0,1,1				p.S197S	NM_005393	NP_005384	A:0		0,1,1	PLXB3_HUMAN	PLXNB3	HGNC	Q9ULL4	PLXB3_HUMAN					3	765	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		UPI000007256A	197			Extracellular (Potential).|Sema.		SNV	PLXNB3,synonymous_variant,p.=,ENST00000538966,NM_001163257.1;PLXNB3,synonymous_variant,p.=,ENST00000361971,NM_005393.2;PLXNB3,intron_variant,,ENST00000538776,;PLXNB3,intron_variant,,ENST00000538282,;PLXNB3,intron_variant,,ENST00000538543,;U52111.14,upstream_gene_variant,,ENST00000434284,;U52111.14,upstream_gene_variant,,ENST00000416854,;	uc004fii.2	c.591G>A	705/6146	1	1			c.591G>A						23	SNP	c.(589-591)TCG>TCA	63	63			lung(1)	1	Broad	plexin B3 isoform 1			153032873		0.716	ENSG00000198753	11927	g.chrX:153032873G>A	axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity							16.545941	KEEP	5	2	-1	10	8	5	2	-1	16.869647	10	8	0.352941	1	0	0	0	0	0	0	1	0	--	--		0	A			PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.1_Intron|PLXNB3_uc010nuk.2_Silent_p.S220S|PLXNB3_uc011mzd.1_Intron	218	GBM-28-5209-TP	p.S197S	G	GCAAGCTGTCGGCAGGGGTGC	NM_005393	NP_005384	153032873	Q9ULL4	PLXB3_HUMAN	0			3	765	+	A	A	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		Silent	197			Extracellular (Potential).|Sema.			
PLXNC1	10154		GRCh37	12	94654582	94654582	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000258526.4:c.3416A>T	p.Asn1139Ile	p.N1139I	ENST00000258526	NM_005761.2	1139	aAc/aTc	0																																																																																																																																																																																																																																												
PLXND1	23129		GRCh37	3	129297231	129297231	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000324093.4:c.2287G>A	p.Val763Met	p.V763M	ENST00000324093	NM_015103.2	763	Gtg/Atg	0																																																																																																																																																																																																																																												
PM20D2	135293	broad.mit.edu	GRCh37	6	89868090	89868090	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs141826904	byFrequency	TCGA-06-0209-01	TCGA-06-0209-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275072.4:c.959A>G	p.Asn320Ser	p.N320S	ENST00000275072	NM_001010853.2	320	aAt/aGt	0	G:0.0011	G:0.0008	1	G:0		G	N/S	uc003pmz.2	protein_coding	YES	CCDS34499.1			959/1311										0	c.(958-960)AAT>AGT			Gene3D:3.40.630.10,Pfam_domain:PF01546,PIRSF_domain:PIRSF037226,hmmpanther:PTHR30575,hmmpanther:PTHR30575:SF2,Superfamily_domains:SSF53187	aminoacylase 1-like 2		G:0	G:0	ENSP00000275072	G:0	7-May	9.88E-05	0.000884	8.66E-05			3.00E-05			rs141826904,COSM3411331	7-May	common_variant		ENST00000275072	Transcript		G:0.0002			hydrolase activity	ENSG00000146281	g.chr6:89868090A>G	21408			MODERATE		2.795	medium	getma.org/?cm=msa&ty=f&p=P20D2_HUMAN&rb=83&re=384&var=N320S	getma.org/pdb.php?prot=P20D2_HUMAN&from=83&to=384&var=N320S	getma.org/?cm=var&var=hg19,6,89868090,A,G&fts=all	N320S	--	--	1																																			0,1	1		possibly_damaging(0.812)	p.N320S	NM_001010853	NP_001010853	G:0	deleterious(0)	0,1	P20D2_HUMAN	PM20D2	HGNC	Q8IYS1	P20D2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00813)			5	1054	+		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	UPI0000160C07	320					SNV	PM20D2,missense_variant,p.Asn320Ser,ENST00000275072,NM_001010853.2;	uc003pmz.2	c.959A>G	1054/4708	3	3			c.959A>G						6	SNP	c.(958-960)AAT>AGT	63	63				0	Broad	aminoacylase 1-like 2			89868090		0.318	ENSG00000146281	11931	g.chr6:89868090A>G			hydrolase activity							33.102275	KEEP	10	10	-1	79	91	10	10	-1	58.165685	79	91	0.112426	1	0	0	0	0	1	0	0	0	--	--		0	G				46	GBM-06-0209-TP	p.N320S	A	GTTCTTCCCAATAAGAGCCTA	NM_001010853	NP_001010853	89868090	Q8IYS1	P20D2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.00813)	5	1054	+	G	G		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	Missense_Mutation	320						
PMEPA1	0	broad.mit.edu	GRCh37	20	56284593	56284595	+	inframe_deletion	In_Frame_Del	DEL	CGG	CGG	-			TCGA-26-5135-01	TCGA-26-5135-01	CGG	CGG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341744.3:c.44_46delCCG	p.Ala15del	p.A15del	ENST00000341744	NM_020182.4	15	gCCGgg/ggg	0			1			-	AG/G	uc002xyq.2	protein_coding	YES	CCDS13463.1			44-46/864									pancreas(1)	1	c.(43-48)GCCGGG>GGG			hmmpanther:PTHR16514,hmmpanther:PTHR16514:SF5	transmembrane prostate androgen-induced protein				ENSP00000345826		4-Jan	0.000722	0.00128	0.000522	0.0016	0.00281	0.00108	0.0217	0.017	TMP_ESP_20_56284593_56284595,rs777231523	4-Jan	common_variant		ENST00000341744	Transcript			androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	ENSG00000124225	g.chr20:56284593_56284595delCGG	14107			MODERATE								--	--	1																																		PMEPA1_uc002xyr.2_Intron|PMEPA1_uc002xys.2_Intron|PMEPA1_uc002xyt.2_Intron|uc002xyu.1_5'Flank		1			p.A15del	NM_020182	NP_064567				PMEPA_HUMAN	PMEPA1	HGNC	Q969W9	PMEPA_HUMAN					1	437_439	-			UPI000004970A	15			Extracellular (Potential).		deletion	PMEPA1,inframe_deletion,p.Ala15del,ENST00000341744,NM_020182.4;PMEPA1,inframe_deletion,p.Ala15del,ENST00000395819,;PMEPA1,intron_variant,,ENST00000265626,NM_199171.2;PMEPA1,intron_variant,,ENST00000347215,NM_199170.2,NM_199169.2;PMEPA1,intron_variant,,ENST00000395816,NM_001255976.1;PMEPA1,intron_variant,,ENST00000472841,;	uc002xyq.2	c.44_46delCCG	364-366/4845	5	5			c.44_46delCCG						20	DEL	c.(43-48)GCCGGG>GGG	29	29			pancreas(1)	1	Broad	transmembrane prostate androgen-induced protein			56284595		0.369	ENSG00000124225	11934	g.chr20:56284593_56284595delCGG	androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding																				0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			PMEPA1_uc002xyr.2_Intron|PMEPA1_uc002xys.2_Intron|PMEPA1_uc002xyt.2_Intron|uc002xyu.1_5'Flank	184	GBM-26-5135-TP	p.A15del	CGG	TTGGGCTgcccggcggcggcggc	NM_020182	NP_064567	56284593	Q969W9	PMEPA_HUMAN	0			1	437_439	-	-	-			In_Frame_Del	15			Extracellular (Potential).			
PMFBP1	0	broad.mit.edu	GRCh37	16	72184650	72184650	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01	TCGA-12-0619-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000237353.10:c.493G>A	p.Ala165Thr	p.A165T	ENST00000237353	NM_031293.2	165	Gcc/Acc	0			1			T	A/T	uc002fcc.3	protein_coding	YES	CCDS32483.1			493/3024									ovary(2)	2	c.(493-495)GCC>ACC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18881:SF2,hmmpanther:PTHR18881	polyamine modulated factor 1 binding protein 1				ENSP00000237353		21-May	2.47E-05		8.64E-05			3.00E-05			rs751072461,COSM2153623,COSM3402467	21-May	.		ENST00000237353	Transcript						ENSG00000118557	g.chr16:72184650C>T	17728			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=PMFBP_HUMAN&rb=1&re=329&var=A165T	NA	getma.org/?cm=var&var=hg19,16,72184650,C,T&fts=all	A165T	--	--	1																																		PMFBP1_uc002fcd.2_Missense_Mutation_p.A165T|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.A20T	0,1,1	1		possibly_damaging(0.469)	p.A165T	NM_031293	NP_112583		deleterious(0.03)	0,1,1	PMFBP_HUMAN	PMFBP1	HGNC	Q8TBY8	PMFBP_HUMAN			F5H4F8_HUMAN,F5H0H9_HUMAN,F5GYR2_HUMAN,F5GXW3_HUMAN		5	665	-		Ovarian(137;0.179)	UPI0000141554	165			Potential.		SNV	PMFBP1,missense_variant,p.Ala165Thr,ENST00000537465,;PMFBP1,missense_variant,p.Ala165Thr,ENST00000237353,NM_031293.2;PMFBP1,missense_variant,p.Ala20Thr,ENST00000355636,NM_001160213.1;PMFBP1,downstream_gene_variant,,ENST00000535461,;PMFBP1,downstream_gene_variant,,ENST00000539172,;PMFBP1,downstream_gene_variant,,ENST00000536211,;PMFBP1,downstream_gene_variant,,ENST00000543746,;PMFBP1,3_prime_UTR_variant,,ENST00000379073,;PMFBP1,upstream_gene_variant,,ENST00000537392,;	uc002fcc.3	c.493G>A	755/3527	2	2			c.493G>A						16	SNP	c.(493-495)GCC>ACC	41	41			ovary(2)	2	Broad	polyamine modulated factor 1 binding protein 1			72184650		0.493	ENSG00000118557	11936	g.chr16:72184650C>T										199.894362	KEEP	44	34	-1	53	62	44	34	-1	201.02097	53	62	0.411043	1	0	0	0	0	1	0	0	0	--	--		0	T			PMFBP1_uc002fcd.2_Missense_Mutation_p.A165T|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.A20T	120	GBM-12-0619-TP	p.A165T	C	CCGGCCAAGGCGAGTTGCTCC	NM_031293	NP_112583	72184650	Q8TBY8	PMFBP_HUMAN	0			5	665	-	T	T		Ovarian(137;0.179)	Missense_Mutation	165			Potential.			
PMFBP1	0	broad.mit.edu	GRCh37	16	72158703	72158703	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01	TCGA-12-1597-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000237353.10:c.2552C>T	p.Ala851Val	p.A851V	ENST00000237353	NM_031293.2	851	gCc/gTc	0			1			A	A/V	uc002fcc.3	protein_coding	YES	CCDS32483.1			2552/3024									ovary(2)	2	c.(2566-2568)GCC>GTC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18881:SF2,hmmpanther:PTHR18881	polyamine modulated factor 1 binding protein 1				ENSP00000237353		17/21									COSM1293622,COSM3402464,COSM3988660	17/21	.		ENST00000237353	Transcript						ENSG00000118557	g.chr16:72158703G>A	17728			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=PMFBP_HUMAN&rb=721&re=1021&var=A856V	NA	getma.org/?cm=var&var=hg19,16,72158703,G,A&fts=all	A856V	--	--	1																																OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	PMFBP1_uc002fcd.2_Missense_Mutation_p.A851V|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.A706V|PMFBP1_uc010cgo.1_Missense_Mutation_p.A147V	1,1,1	1		benign(0.158)	p.A856V	NM_031293	NP_112583		deleterious(0.02)	1,1,1	PMFBP_HUMAN	PMFBP1	HGNC	Q8TBY8	PMFBP_HUMAN			F5H4F8_HUMAN,F5H0H9_HUMAN,F5GYR2_HUMAN,F5GXW3_HUMAN		17	2739	-		Ovarian(137;0.179)	UPI0000141554	856			Potential.		SNV	PMFBP1,missense_variant,p.Ala856Val,ENST00000537465,;PMFBP1,missense_variant,p.Ala851Val,ENST00000237353,NM_031293.2;PMFBP1,missense_variant,p.Ala706Val,ENST00000355636,NM_001160213.1;PMFBP1,missense_variant,p.Ala17Val,ENST00000537792,;PMFBP1,3_prime_UTR_variant,,ENST00000379073,;PMFBP1,downstream_gene_variant,,ENST00000537392,;	uc002fcc.3	c.2567C>T	2814/3527	2	2			c.2567C>T						16	SNP	c.(2566-2568)GCC>GTC	32	32			ovary(2)	2	Broad	polyamine modulated factor 1 binding protein 1			72158703		0.572	ENSG00000118557	11936	g.chr16:72158703G>A										-46.928661	KEEP	2	2	-1	104	102	2	2	-1	6.747243	104	102	0.019324	1	0	0	0	0	1	0	0	0	--	--		0	A	OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	PMFBP1_uc002fcd.2_Missense_Mutation_p.A851V|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.A706V|PMFBP1_uc010cgo.1_Missense_Mutation_p.A147V	124	GBM-12-1597-TP	p.A856V	G	TTTTAAGGCGGCCATCTCCTC	NM_031293	NP_112583	72158703	Q8TBY8	PMFBP_HUMAN	0			17	2739	-	A	A		Ovarian(137;0.179)	Missense_Mutation	856			Potential.			
PMFBP1	0	broad.mit.edu	GRCh37	16	72184633	72184633	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-15-1444-01	TCGA-15-1444-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000237353.10:c.510G>A	p.Lys170=	p.K170=	ENST00000237353	NM_031293.2	170	aaG/aaA	0			1			T	K	uc002fcc.3	protein_coding	YES	CCDS32483.1			510/3024									ovary(2)	2	c.(508-510)AAG>AAA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18881:SF2,hmmpanther:PTHR18881	polyamine modulated factor 1 binding protein 1				ENSP00000237353		21-May									COSM3402465,COSM3402466	21-May	.		ENST00000237353	Transcript						ENSG00000118557	g.chr16:72184633C>T	17728			LOW								--	--	1																																		PMFBP1_uc002fcd.2_Silent_p.K170K|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Silent_p.K25K	1,1	1			p.K170K	NM_031293	NP_112583			1,1	PMFBP_HUMAN	PMFBP1	HGNC	Q8TBY8	PMFBP_HUMAN			F5H4F8_HUMAN,F5H0H9_HUMAN,F5GYR2_HUMAN,F5GXW3_HUMAN		5	682	-		Ovarian(137;0.179)	UPI0000141554	170			Potential.		SNV	PMFBP1,synonymous_variant,p.=,ENST00000537465,;PMFBP1,synonymous_variant,p.=,ENST00000237353,NM_031293.2;PMFBP1,synonymous_variant,p.=,ENST00000355636,NM_001160213.1;PMFBP1,downstream_gene_variant,,ENST00000535461,;PMFBP1,downstream_gene_variant,,ENST00000539172,;PMFBP1,downstream_gene_variant,,ENST00000536211,;PMFBP1,downstream_gene_variant,,ENST00000543746,;PMFBP1,3_prime_UTR_variant,,ENST00000379073,;PMFBP1,upstream_gene_variant,,ENST00000537392,;	uc002fcc.3	c.510G>A	772/3527	2	2			c.510G>A						16	SNP	c.(508-510)AAG>AAA	45	45			ovary(2)	2	Broad	polyamine modulated factor 1 binding protein 1			72184633		0.498	ENSG00000118557	11936	g.chr16:72184633C>T										81.177884	KEEP	13	21	-1	50	48	13	21	-1	88.214189	50	48	0.25	1	0	0	0	0	0	0	1	0	--	--		0	T			PMFBP1_uc002fcd.2_Silent_p.K170K|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Silent_p.K25K	154	GBM-15-1444-TP	p.K170K	C	GAGAGGCGATCTTGTCCCCGG	NM_031293	NP_112583	72184633	Q8TBY8	PMFBP_HUMAN	0			5	682	-	T	T		Ovarian(137;0.179)	Silent	170			Potential.			
PMM1	0	broad.mit.edu	GRCh37	22	41974860	41974860	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-12-3649-01	TCGA-12-3649-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216259.7:c.500T>C	p.Val167Ala	p.V167A	ENST00000216259	NM_002676.2	167	gTg/gCg	0			1			G	V/A	uc003bal.2	protein_coding	YES	CCDS14020.1			500/789									ovary(1)	1	c.(499-501)GTG>GCG			Pfam_domain:PF03332,hmmpanther:PTHR10466,hmmpanther:PTHR10466:SF1,Superfamily_domains:SSF56784,TIGRFAM_domain:TIGR01484	phosphomannomutase 1				ENSP00000216259		8-Jun									COSM3405694	8-Jun	.		ENST00000216259	Transcript			dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity	ENSG00000100417	g.chr22:41974860A>G	9114			MODERATE		2.835	medium	getma.org/?cm=msa&ty=f&p=PMM1_HUMAN&rb=35&re=256&var=V167A	getma.org/pdb.php?prot=PMM1_HUMAN&from=35&to=256&var=V167A	getma.org/?cm=var&var=hg19,22,41974860,A,G&fts=all	V167A	--	--	1																																			1	1		possibly_damaging(0.837)	p.V167A	NM_002676	NP_002667		deleterious(0.03)	1	PMM1_HUMAN	PMM1	HGNC	Q92871	PMM1_HUMAN					6	562	-			UPI00000302B6	167					SNV	PMM1,missense_variant,p.Val167Ala,ENST00000216259,NM_002676.2;CSDC2,downstream_gene_variant,,ENST00000306149,NM_014460.3;CSDC2,downstream_gene_variant,,ENST00000460790,;PMM1,non_coding_transcript_exon_variant,,ENST00000463617,;PMM1,non_coding_transcript_exon_variant,,ENST00000482178,;PMM1,non_coding_transcript_exon_variant,,ENST00000472620,;PMM1,non_coding_transcript_exon_variant,,ENST00000485648,;	uc003bal.2	c.500T>C	585/1298	4	4			c.500T>C						22	SNP	c.(499-501)GTG>GCG	28	28			ovary(1)	1	Broad	phosphomannomutase 1			41974860		0.468	ENSG00000100417	11938	g.chr22:41974860A>G	dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity							57.835449	KEEP	10	12	-1	26	12	10	12	-1	58.921582	26	12	0.346154	1	0	0	0	0	1	0	0	0	--	--		0	G				125	GBM-12-3649-TP	p.V167A	A	CAGGGCTTCCACGAACTTCTC	NM_002676	NP_002667	41974860	Q92871	PMM1_HUMAN	0			6	562	-	G	G			Missense_Mutation	167						
PMPCA	0	broad.mit.edu	GRCh37	9	139306464	139306464	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371717.3:c.87G>A	p.Ala29=	p.A29=	ENST00000371717	NM_015160.1	29	gcG/gcA	0			1			A	A	uc004chl.2	protein_coding	YES	CCDS35180.1			87/1578										0	c.(85-87)GCG>GCA			hmmpanther:PTHR11851:SF49,hmmpanther:PTHR11851	peptidase (mitochondrial processing) alpha				ENSP00000360782		13-Feb	3.30E-05		9.26E-05			3.38E-05		6.40E-05	rs201155751,COSM3413462	13-Feb	.		ENST00000371717	Transcript			proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000165688	g.chr9:139306464G>A	18667			LOW								--	--	1																																		SDCCAG3_uc004chi.2_5'Flank|SDCCAG3_uc004chj.2_5'Flank|SDCCAG3_uc004chk.2_5'Flank|PMPCA_uc011mdy.1_Silent_p.A29A|PMPCA_uc010nbk.2_RNA|PMPCA_uc010nbl.2_5'UTR|PMPCA_uc011mdz.1_5'UTR	0,1	1			p.A29A	NM_015160	NP_055975			0,1	MPPA_HUMAN	PMPCA	HGNC	Q10713	MPPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)	Q9BT52_HUMAN,Q5SXN0_HUMAN		2	92	+		Myeloproliferative disorder(178;0.0821)	UPI00000703D3	29					SNV	PMPCA,synonymous_variant,p.=,ENST00000371717,NM_015160.1,NM_001282946.1;PMPCA,synonymous_variant,p.=,ENST00000371720,;PMPCA,5_prime_UTR_variant,,ENST00000399219,NM_001282944.1;SDCCAG3,upstream_gene_variant,,ENST00000298537,NM_006643.3;SDCCAG3,upstream_gene_variant,,ENST00000357365,NM_001039707.1;SDCCAG3,upstream_gene_variant,,ENST00000371725,NM_001039708.1;SDCCAG3,upstream_gene_variant,,ENST00000371723,;SDCCAG3,upstream_gene_variant,,ENST00000417512,;SDCCAG3,upstream_gene_variant,,ENST00000446833,;PMPCA,upstream_gene_variant,,ENST00000462616,;SDCCAG3,upstream_gene_variant,,ENST00000468963,;SDCCAG3,upstream_gene_variant,,ENST00000486441,;	uc004chl.2	c.87G>A	96/2084	2	2			c.87G>A						9	SNP	c.(85-87)GCG>GCA	38	38				0	Broad	peptidase (mitochondrial processing) alpha			139306464		0.493	ENSG00000165688	11942	g.chr9:139306464G>A	proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding							-4.016386	KEEP	2	1	-1	32	18	2	1	-1	6.652842	32	18	0.057692	1	0	0	0	0	0	0	1	0	--	--		0	A			SDCCAG3_uc004chi.2_5'Flank|SDCCAG3_uc004chj.2_5'Flank|SDCCAG3_uc004chk.2_5'Flank|PMPCA_uc011mdy.1_Silent_p.A29A|PMPCA_uc010nbk.2_RNA|PMPCA_uc010nbl.2_5'UTR|PMPCA_uc011mdz.1_5'UTR	162	GBM-19-2620-TP	p.A29A	G	GACCTCCTGCGTACAGACGGT	NM_015160	NP_055975	139306464	Q10713	MPPA_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)	2	92	+	A	A		Myeloproliferative disorder(178;0.0821)	Silent	29						
PMPCA	0	broad.mit.edu	GRCh37	9	139311437	139311437	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01	TCGA-76-6192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371717.3:c.668G>A	p.Arg223His	p.R223H	ENST00000371717	NM_015160.1	223	cGt/cAt	0			1			A	R/H	uc004chl.2	protein_coding	YES	CCDS35180.1			668/1578										0	c.(667-669)CGT>CAT			hmmpanther:PTHR11851:SF49,hmmpanther:PTHR11851,Gene3D:3.30.830.10,Pfam_domain:PF00675,Superfamily_domains:SSF63411	peptidase (mitochondrial processing) alpha				ENSP00000360782		13-Jul	1.65E-05					1.52E-05		6.22E-05	rs776990571,COSM3215383	13-Jul	.		ENST00000371717	Transcript			proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000165688	g.chr9:139311437G>A	18667			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=MPPA_HUMAN&rb=77&re=227&var=R223H	getma.org/pdb.php?prot=MPPA_HUMAN&from=77&to=227&var=R223H	getma.org/?cm=var&var=hg19,9,139311437,G,A&fts=all	R223H	--	--	1																																		PMPCA_uc010nbl.2_Missense_Mutation_p.R123H|PMPCA_uc011mdz.1_Missense_Mutation_p.R92H|PMPCA_uc004chm.1_5'UTR|PMPCA_uc004chn.1_5'Flank	0,1	1		probably_damaging(0.987)	p.R223H	NM_015160	NP_055975		deleterious(0)	0,1	MPPA_HUMAN	PMPCA	HGNC	Q10713	MPPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)	Q9BT52_HUMAN,Q5SXN0_HUMAN		7	673	+		Myeloproliferative disorder(178;0.0821)	UPI00000703D3	223					SNV	PMPCA,missense_variant,p.Arg223His,ENST00000371717,NM_015160.1,NM_001282946.1;PMPCA,missense_variant,p.Arg92His,ENST00000399219,NM_001282944.1;PMPCA,upstream_gene_variant,,ENST00000444897,;PMPCA,downstream_gene_variant,,ENST00000371720,;PMPCA,non_coding_transcript_exon_variant,,ENST00000462616,;	uc004chl.2	c.668G>A	677/2084	2	2			c.668G>A						9	SNP	c.(667-669)CGT>CAT	24	24				0	Broad	peptidase (mitochondrial processing) alpha			139311437		0.562	ENSG00000165688	11942	g.chr9:139311437G>A	proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding							9.189413	KEEP	0	4	-1	15	3	0	4	-1	10.86284	15	3	0.2	1	0	0	0	0	1	0	0	0	--	--		0	A			PMPCA_uc010nbl.2_Missense_Mutation_p.R123H|PMPCA_uc011mdz.1_Missense_Mutation_p.R92H|PMPCA_uc004chm.1_5'UTR|PMPCA_uc004chn.1_5'Flank	275	GBM-76-6192-TP	p.R223H	G	GGCCTCCACCGTTTCTGCCCC	NM_015160	NP_055975	139311437	Q10713	MPPA_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)	7	673	+	A	A		Myeloproliferative disorder(178;0.0821)	Missense_Mutation	223						
PMPCB	0	broad.mit.edu	GRCh37	7	102937947	102937947	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01	TCGA-14-3476-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000249269.4:c.41C>A	p.Ala14Glu	p.A14E	ENST00000249269	NM_004279.2	14	gCg/gAg	0			1			A	A/E	uc003vbl.2	protein_coding	YES	CCDS5730.1			41/1470									ovary(4)	4	c.(40-42)GCG>GAG			hmmpanther:PTHR11851,hmmpanther:PTHR11851:SF103,Low_complexity_(Seg):seg	mitochondrial processing peptidase beta subunit				ENSP00000249269		13-Jan									COSM3411419	13-Jan	.		ENST00000249269	Transcript			proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	ENSG00000105819	g.chr7:102937947C>A	9119			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=MPPB_HUMAN&rb=1&re=67&var=A14E	NA	getma.org/?cm=var&var=hg19,7,102937947,C,A&fts=all	A14E	--	--	1																																OREG0018240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	PMPCB_uc010liu.1_Missense_Mutation_p.A14E|PMPCB_uc003vbk.1_Missense_Mutation_p.A14E|PMPCB_uc003vbm.2_5'UTR|PMPCB_uc010liv.2_5'UTR|PMPCB_uc010liw.2_5'UTR|PMPCB_uc011kll.1_5'UTR|PMPCB_uc011klm.1_5'Flank	1	1		unknown(0)	p.A14E	NM_004279	NP_004270		tolerated(0.06)	1	MPPB_HUMAN	PMPCB	HGNC	O75439	MPPB_HUMAN					1	75	+			UPI00000712F7	14					SNV	PMPCB,missense_variant,p.Ala14Glu,ENST00000249269,NM_004279.2;PMPCB,missense_variant,p.Ala14Glu,ENST00000428154,;PMPCB,5_prime_UTR_variant,,ENST00000420236,;PMPCB,missense_variant,p.Ala14Glu,ENST00000444457,;PMPCB,missense_variant,p.Ala14Glu,ENST00000453466,;PMPCB,missense_variant,p.Ala14Glu,ENST00000443722,;PMPCB,missense_variant,p.Ala14Glu,ENST00000456433,;PMPCB,non_coding_transcript_exon_variant,,ENST00000498530,;	uc003vbl.2	c.41C>A	79/2472	1	1			c.41C>A						7	SNP	c.(40-42)GCG>GAG	49	49			ovary(4)	4	Broad	mitochondrial processing peptidase beta subunit			102937947		0.652	ENSG00000105819	11943	g.chr7:102937947C>A	proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding							8.905385	KEEP	7	4	0.363636364	47	56	7	4	0.363636364	23.850505	47	56	0.104167	1	0	0	0	0	1	0	0	0	--	--		0	A	OREG0018240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	PMPCB_uc010liu.1_Missense_Mutation_p.A14E|PMPCB_uc003vbk.1_Missense_Mutation_p.A14E|PMPCB_uc003vbm.2_5'UTR|PMPCB_uc010liv.2_5'UTR|PMPCB_uc010liw.2_5'UTR|PMPCB_uc011kll.1_5'UTR|PMPCB_uc011klm.1_5'Flank	151	GBM-14-3476-TP	p.A14E	C	TCATCCGCGGCGCGGCGGCGG	NM_004279	NP_004270	102937947	O75439	MPPB_HUMAN	0			1	75	+	A	A			Missense_Mutation	14						
PMS1	0	broad.mit.edu	GRCh37	2	190728600	190728600	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0618-01	TCGA-12-0618-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000441310.2:c.1988C>T	p.Ala663Val	p.A663V	ENST00000441310	NM_000534.4	663	gCc/gTc	0			1			T	A/V	uc002urh.3	protein_coding	YES	CCDS2302.1			1988/2799	Mis|N			colorectal|endometrial|ovarian					ovary(2)|kidney(1)|central_nervous_system(1)	4	c.(1987-1989)GCC>GTC		Direct_reversal_of_damage|MMR	hmmpanther:PTHR10073,hmmpanther:PTHR10073:SF38	postmeiotic segregation 1 isoform a				ENSP00000406490		13-Oct									COSM476665	13-Oct	.		ENST00000441310	Transcript	1		mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	ENSG00000064933	g.chr2:190728600C>T	9121			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=PMS1_HUMAN&rb=639&re=838&var=A663V	NA	getma.org/?cm=var&var=hg19,2,190728600,C,T&fts=all	A663V	--	--	1																																		PMS1_uc010zga.1_3'UTR|PMS1_uc010zgb.1_Missense_Mutation_p.A602V|PMS1_uc002urk.3_Missense_Mutation_p.A624V|PMS1_uc002uri.3_Intron|PMS1_uc010zgc.1_Missense_Mutation_p.A487V|PMS1_uc010zgd.1_Missense_Mutation_p.A487V|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.A624V|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Intron|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_Missense_Mutation_p.A331V	1	1		benign(0.059)	p.A663V	NM_000534	NP_000525		tolerated(0.39)	1	PMS1_HUMAN	PMS1	HGNC	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		Q5FBZ2_HUMAN,C9JKP0_HUMAN,C9JF76_HUMAN,C9J4L1_HUMAN,B7ZAA0_HUMAN		10	2517	+			UPI00000405F5	663					SNV	PMS1,missense_variant,p.Ala663Val,ENST00000441310,NM_000534.4;PMS1,missense_variant,p.Ala487Val,ENST00000418224,;PMS1,missense_variant,p.Ala624Val,ENST00000409823,NM_001128143.1;PMS1,missense_variant,p.Ala487Val,ENST00000432292,;PMS1,missense_variant,p.Ala602Val,ENST00000424307,;PMS1,missense_variant,p.Ala51Val,ENST00000452382,;PMS1,intron_variant,,ENST00000447232,NM_001128144.1;PMS1,intron_variant,,ENST00000409593,;PMS1,non_coding_transcript_exon_variant,,ENST00000421722,;PMS1,non_coding_transcript_exon_variant,,ENST00000424059,;PMS1,non_coding_transcript_exon_variant,,ENST00000483293,;PMS1,missense_variant,p.Ala624Val,ENST00000450931,;PMS1,3_prime_UTR_variant,,ENST00000342075,;	uc002urh.3	c.1988C>T	2221/3225	1	1			c.1988C>T	Mis|N			colorectal|endometrial|ovarian		2	SNP	c.(1987-1989)GCC>GTC	7	7			ovary(2)|kidney(1)|central_nervous_system(1)	4	Broad	postmeiotic segregation 1 isoform a	Direct_reversal_of_damage|MMR		190728600		0.363	ENSG00000064933	11944	g.chr2:190728600C>T	mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			236			236	-40.423062	KEEP	2	4	-1	97	102	2	4	-1	6.555341	97	102	0.021739	1	0	0	0	0	1	0	0	0	--	--		0	T			PMS1_uc010zga.1_3'UTR|PMS1_uc010zgb.1_Missense_Mutation_p.A602V|PMS1_uc002urk.3_Missense_Mutation_p.A624V|PMS1_uc002uri.3_Intron|PMS1_uc010zgc.1_Missense_Mutation_p.A487V|PMS1_uc010zgd.1_Missense_Mutation_p.A487V|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.A624V|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Intron|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_Missense_Mutation_p.A331V	119	GBM-12-0618-TP	p.A663V	C	TGGAATTTGGCCCAGAAGCAC	NM_000534	NP_000525	190728600	P54277	PMS1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		10	2517	+	T	T			Missense_Mutation	663						
PMS1	0	broad.mit.edu	GRCh37	2	190660525	190660525	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-27-2524-01	TCGA-27-2524-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000441310.2:c.163C>T	p.Arg55Ter	p.R55*	ENST00000441310	NM_000534.4	55	Cga/Tga	0	T:0		1			T	R/*	uc002urh.3	protein_coding	YES	CCDS2302.1			163/2799	Mis|N			colorectal|endometrial|ovarian					ovary(2)|kidney(1)|central_nervous_system(1)	4	c.(163-165)CGA>TGA		Direct_reversal_of_damage|MMR	hmmpanther:PTHR10073,hmmpanther:PTHR10073:SF38,Gene3D:3.30.565.10,TIGRFAM_domain:TIGR00585,Pfam_domain:PF13589,Superfamily_domains:SSF55874	postmeiotic segregation 1 isoform a			T:0.0001	ENSP00000406490		13-Mar	1.65E-05					1.50E-05		6.06E-05	rs375147123,COSM3407416	13-Mar	.		ENST00000441310	Transcript	1		mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	ENSG00000064933	g.chr2:190660525C>T	9121			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,190660525,C,T&fts=all	R55*	--	--	1																																		PMS1_uc010zga.1_Nonsense_Mutation_p.R55*|PMS1_uc010zgb.1_Intron|PMS1_uc002urk.3_Nonsense_Mutation_p.R55*|PMS1_uc002uri.3_Nonsense_Mutation_p.R55*|PMS1_uc010zgc.1_5'UTR|PMS1_uc010zgd.1_Intron|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Nonsense_Mutation_p.R55*|PMS1_uc010frz.2_Nonsense_Mutation_p.R55*|PMS1_uc010zfz.1_Nonsense_Mutation_p.R55*	0,1	1			p.R55*	NM_000534	NP_000525			0,1	PMS1_HUMAN	PMS1	HGNC	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		Q5FBZ2_HUMAN,C9JKP0_HUMAN,C9JF76_HUMAN,C9J4L1_HUMAN,B7ZAA0_HUMAN		3	692	+			UPI00000405F5	55					SNV	PMS1,stop_gained,p.Arg55Ter,ENST00000441310,NM_000534.4;PMS1,stop_gained,p.Arg55Ter,ENST00000409823,NM_001128143.1;PMS1,stop_gained,p.Arg55Ter,ENST00000447232,NM_001128144.1;PMS1,stop_gained,p.Arg55Ter,ENST00000409985,;PMS1,stop_gained,p.Arg55Ter,ENST00000374826,;PMS1,stop_gained,p.Arg55Ter,ENST00000424766,;PMS1,stop_gained,p.Arg55Ter,ENST00000420421,;PMS1,5_prime_UTR_variant,,ENST00000418224,;PMS1,intron_variant,,ENST00000432292,;PMS1,intron_variant,,ENST00000424307,;PMS1,downstream_gene_variant,,ENST00000446877,;PMS1,non_coding_transcript_exon_variant,,ENST00000421722,;PMS1,non_coding_transcript_exon_variant,,ENST00000424059,;PMS1,stop_gained,p.Arg55Ter,ENST00000342075,;PMS1,stop_gained,p.Arg55Ter,ENST00000450931,;PMS1,intron_variant,,ENST00000447734,;	uc002urh.3	c.163C>T	396/3225	5	2			c.163C>T	Mis|N			colorectal|endometrial|ovarian		2	SNP	c.(163-165)CGA>TGA	42	42			ovary(2)|kidney(1)|central_nervous_system(1)	4	Broad	postmeiotic segregation 1 isoform a	Direct_reversal_of_damage|MMR		190660525		0.323	ENSG00000064933	11944	g.chr2:190660525C>T	mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			236			236	160.496498	KEEP	33	29	-1	66	66	33	29	-1	164.650934	66	66	0.33526	1	0	0	0	0	0	1	0	0	--	--		0	T			PMS1_uc010zga.1_Nonsense_Mutation_p.R55*|PMS1_uc010zgb.1_Intron|PMS1_uc002urk.3_Nonsense_Mutation_p.R55*|PMS1_uc002uri.3_Nonsense_Mutation_p.R55*|PMS1_uc010zgc.1_5'UTR|PMS1_uc010zgd.1_Intron|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Nonsense_Mutation_p.R55*|PMS1_uc010frz.2_Nonsense_Mutation_p.R55*|PMS1_uc010zfz.1_Nonsense_Mutation_p.R55*	202	GBM-27-2524-TP	p.R55*	C	AATTGAGGTGCGAGATAACGG	NM_000534	NP_000525	190660525	P54277	PMS1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		3	692	+	T	T			Nonsense_Mutation	55						
PMS2	0	broad.mit.edu	GRCh37	7	6026906	6026906	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01	TCGA-27-2524-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265849.7:c.1490G>A	p.Gly497Asp	p.G497D	ENST00000265849	NM_000535.5	497	gGc/gAc	0			1			T	G/D	uc003spl.2	protein_coding	YES	CCDS5343.1			1490/2589	Mis|N|F			colorectal|endometrial|ovarian|medulloblastoma|glioma		uncertain_significance,not_provided			lung(1)|central_nervous_system(1)	2	c.(1489-1491)GGC>GAC		Direct_reversal_of_damage|MMR	hmmpanther:PTHR10073,hmmpanther:PTHR10073:SF9	PMS2 postmeiotic segregation increased 2 isoform				ENSP00000265849		15-Nov	0.000107				0.000151	0.00018			rs199739859,COSM3412219	15-Nov	.	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	ENST00000265849	Transcript	1		mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	ENSG00000122512	g.chr7:6026906C>T	9122			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=PMS2_HUMAN&rb=364&re=563&var=G497D	NA	getma.org/?cm=var&var=hg19,7,6026906,C,T&fts=all	G497D	--	--	1																																		PMS2_uc003spj.2_Missense_Mutation_p.G391D|PMS2_uc003spk.2_Missense_Mutation_p.G362D|PMS2_uc011jwl.1_Missense_Mutation_p.G362D|PMS2_uc010ktg.2_Missense_Mutation_p.G186D|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Missense_Mutation_p.G497D	1,1	1		benign(0.005)	p.G497D	NM_000535	NP_000526		tolerated(0.38)	0,1	PMS2_HUMAN	PMS2	HGNC	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)			11	1577	-		Ovarian(82;0.0694)	UPI000013D696	497					SNV	PMS2,missense_variant,p.Gly497Asp,ENST00000265849,NM_000535.5;PMS2,missense_variant,p.Gly391Asp,ENST00000441476,;PMS2,missense_variant,p.Gly497Asp,ENST00000406569,;PMS2,intron_variant,,ENST00000382321,;PMS2,intron_variant,,ENST00000469652,;	uc003spl.2	c.1490G>A	1596/2855	1	1			c.1490G>A	Mis|N|F			colorectal|endometrial|ovarian|medulloblastoma|glioma		7	SNP	c.(1489-1491)GGC>GAC	1	1			lung(1)|central_nervous_system(1)	2	Broad	PMS2 postmeiotic segregation increased 2 isoform	Direct_reversal_of_damage|MMR		6026906	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	0.632	ENSG00000122512	11945	g.chr7:6026906C>T	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding		p.G497D(CAKI2-Tumor)	812		p.G497D(CAKI2-Tumor)	812	-49.452544	KEEP	2	2	-1	110	121	2	2	-1	6.582096	110	121	0.018605	1	0	0	0	0	1	0	0	0	--	--		0	T			PMS2_uc003spj.2_Missense_Mutation_p.G391D|PMS2_uc003spk.2_Missense_Mutation_p.G362D|PMS2_uc011jwl.1_Missense_Mutation_p.G362D|PMS2_uc010ktg.2_Missense_Mutation_p.G186D|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Missense_Mutation_p.G497D	202	GBM-27-2524-TP	p.G497D	C	GGAAGTGCTGCCGTGCCCCGA	NM_000535	NP_000526	6026906	P54278	PMS2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	11	1577	-	T	T		Ovarian(82;0.0694)	Missense_Mutation	497						
PMS2	5395		GRCh37	7	6027045	6027045	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000265849.7:c.1351A>G	p.Arg451Gly	p.R451G	ENST00000265849	NM_000535.5	451	Agg/Ggg	0																																																																																																																																																																																																																																												
PNCK	0	broad.mit.edu	GRCh37	X	152936012	152936012	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01	TCGA-14-1450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340888.3:c.932G>A	p.Arg311Gln	p.R311Q	ENST00000340888		311	cGg/cAg	0			1			T	R/Q	uc011myu.1	protein_coding					932/1032									breast(1)	1	c.(1180-1182)CGG>CAG			hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF161	pregnancy upregulated non-ubiquitously expressed				ENSP00000340586		12-Nov	4.12E-05							0.000464	rs782337569,COSM3406106,COSM3406104,COSM3406105,COSM3406103	12-Nov	common_variant		ENST00000340888	Transcript				cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	ENSG00000130822	g.chrX:152936012C>T	13415			MODERATE		1.465	low	getma.org/?cm=msa&ty=f&p=KCC1B_HUMAN&rb=271&re=343&var=R311Q	getma.org/pdb.php?prot=KCC1B_HUMAN&from=271&to=343&var=R311Q	getma.org/?cm=var&var=hg19,X,152936012,C,T&fts=all	R311Q	--	--	1																																		PNCK_uc011myt.1_Missense_Mutation_p.R328Q|PNCK_uc004fia.2_Missense_Mutation_p.R346Q|PNCK_uc004fhz.3_Missense_Mutation_p.R209Q	0,1,1,1,1			benign(0.002)	p.R394Q	NM_001039582	NP_001034671		tolerated(0.18)	0,1,1,1,1	KCC1B_HUMAN	PNCK	HGNC	Q6P2M8	KCC1B_HUMAN			C9JJ18_HUMAN,C9JEC5_HUMAN,C9JB09_HUMAN,C9J2B9_HUMAN		11	1367	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		UPI0000211C86	311			Calmodulin-binding (By similarity).		SNV	PNCK,missense_variant,p.Arg334Gln,ENST00000393831,NM_001039582.3;PNCK,missense_variant,p.Arg311Gln,ENST00000370150,;PNCK,missense_variant,p.Arg394Gln,ENST00000447676,;PNCK,missense_variant,p.Arg334Gln,ENST00000370142,;PNCK,missense_variant,p.Arg311Gln,ENST00000340888,;PNCK,missense_variant,p.Arg328Gln,ENST00000370145,NM_001135740.1;PNCK,missense_variant,p.Arg43Gln,ENST00000438984,;PNCK,downstream_gene_variant,,ENST00000422811,;PNCK,downstream_gene_variant,,ENST00000439087,;PNCK,downstream_gene_variant,,ENST00000425526,;PNCK,downstream_gene_variant,,ENST00000418241,;PNCK,downstream_gene_variant,,ENST00000419804,;PNCK,downstream_gene_variant,,ENST00000458354,;PNCK,downstream_gene_variant,,ENST00000423545,;PNCK,downstream_gene_variant,,ENST00000434652,;RN7SL687P,downstream_gene_variant,,ENST00000480496,;PNCK,downstream_gene_variant,,ENST00000475172,;PNCK,downstream_gene_variant,,ENST00000462280,;PNCK,downstream_gene_variant,,ENST00000460106,;PNCK,non_coding_transcript_exon_variant,,ENST00000472324,;PNCK,non_coding_transcript_exon_variant,,ENST00000466074,;PNCK,non_coding_transcript_exon_variant,,ENST00000488994,;PNCK,downstream_gene_variant,,ENST00000473680,;PNCK,downstream_gene_variant,,ENST00000466638,;PNCK,downstream_gene_variant,,ENST00000488168,;PNCK,downstream_gene_variant,,ENST00000465303,;PNCK,downstream_gene_variant,,ENST00000489536,;PNCK,downstream_gene_variant,,ENST00000463548,;PNCK,downstream_gene_variant,,ENST00000433470,;PNCK,downstream_gene_variant,,ENST00000411968,;PNCK,downstream_gene_variant,,ENST00000466662,;	uc011myu.1	c.1181G>A	1000/1508	2	2			c.1181G>A						23	SNP	c.(1180-1182)CGG>CAG	35	35			breast(1)	1	Broad	pregnancy upregulated non-ubiquitously expressed			152936012		0.687	ENSG00000130822	11947	g.chrX:152936012C>T		cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			91			91	-3.217905	KEEP	4	1	-1	33	35	4	1	-1	9.188677	33	35	0.074627	1	0	0	0	0	1	0	0	0	--	--		0	T			PNCK_uc011myt.1_Missense_Mutation_p.R328Q|PNCK_uc004fia.2_Missense_Mutation_p.R346Q|PNCK_uc004fhz.3_Missense_Mutation_p.R209Q	145	GBM-14-1450-TP	p.R394Q	C	CCCCAGCTTCCGGATGTGGCG	NM_001039582	NP_001034671	152936012	Q6P2M8	KCC1B_HUMAN	0			11	1367	-	T	T	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	311			Calmodulin-binding (By similarity).			
PNCK	0	broad.mit.edu	GRCh37	X	152937465	152937465	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01	TCGA-19-5950-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340888.3:c.284G>A	p.Gly95Asp	p.G95D	ENST00000340888		95	gGt/gAt	0			1			T	G/D	uc011myu.1	protein_coding					284/1032									breast(1)	1	c.(532-534)GGT>GAT			Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF161,SMART_domains:SM00220,Superfamily_domains:SSF56112	pregnancy upregulated non-ubiquitously expressed				ENSP00000340586		12-May									COSM2156546,COSM2156544,COSM2156545,COSM2156543	12-May	.		ENST00000340888	Transcript				cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	ENSG00000130822	g.chrX:152937465C>T	13415			MODERATE		2.98	medium	getma.org/?cm=msa&ty=f&p=KCC1B_HUMAN&rb=15&re=270&var=G95D	getma.org/pdb.php?prot=KCC1B_HUMAN&from=15&to=270&var=G95D	getma.org/?cm=var&var=hg19,X,152937465,C,T&fts=all	G95D	--	--	1																																		PNCK_uc011myt.1_Missense_Mutation_p.G112D|PNCK_uc004fia.2_Missense_Mutation_p.G107D|PNCK_uc004fhz.3_Translation_Start_Site|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.1_Missense_Mutation_p.G122D|PNCK_uc011myw.1_Missense_Mutation_p.G122D	1,1,1,1			probably_damaging(1)	p.G178D	NM_001039582	NP_001034671		deleterious(0)	1,1,1,1	KCC1B_HUMAN	PNCK	HGNC	Q6P2M8	KCC1B_HUMAN			C9JJ18_HUMAN,C9JEC5_HUMAN,C9JB09_HUMAN,C9J2B9_HUMAN		5	719	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		UPI0000211C86	95			Protein kinase.		SNV	PNCK,missense_variant,p.Gly95Asp,ENST00000393831,NM_001039582.3;PNCK,missense_variant,p.Gly95Asp,ENST00000370150,;PNCK,missense_variant,p.Gly178Asp,ENST00000447676,;PNCK,missense_variant,p.Gly95Asp,ENST00000370142,;PNCK,missense_variant,p.Gly95Asp,ENST00000340888,;PNCK,missense_variant,p.Gly112Asp,ENST00000370145,NM_001135740.1;PNCK,missense_variant,p.Gly95Asp,ENST00000422811,;PNCK,missense_variant,p.Gly95Asp,ENST00000439087,;PNCK,3_prime_UTR_variant,,ENST00000419804,;PNCK,downstream_gene_variant,,ENST00000425526,;PNCK,downstream_gene_variant,,ENST00000418241,;PNCK,downstream_gene_variant,,ENST00000458354,;PNCK,downstream_gene_variant,,ENST00000423545,;PNCK,upstream_gene_variant,,ENST00000438984,;PNCK,downstream_gene_variant,,ENST00000434652,;PNCK,non_coding_transcript_exon_variant,,ENST00000475172,;PNCK,downstream_gene_variant,,ENST00000462280,;PNCK,downstream_gene_variant,,ENST00000460106,;PNCK,3_prime_UTR_variant,,ENST00000433470,;PNCK,3_prime_UTR_variant,,ENST00000411968,;PNCK,non_coding_transcript_exon_variant,,ENST00000472324,;PNCK,non_coding_transcript_exon_variant,,ENST00000466074,;PNCK,non_coding_transcript_exon_variant,,ENST00000488994,;PNCK,non_coding_transcript_exon_variant,,ENST00000473680,;PNCK,non_coding_transcript_exon_variant,,ENST00000466638,;PNCK,non_coding_transcript_exon_variant,,ENST00000488168,;PNCK,non_coding_transcript_exon_variant,,ENST00000465303,;PNCK,non_coding_transcript_exon_variant,,ENST00000489536,;PNCK,non_coding_transcript_exon_variant,,ENST00000463548,;PNCK,downstream_gene_variant,,ENST00000466662,;	uc011myu.1	c.533G>A	352/1508	2	2			c.533G>A						23	SNP	c.(532-534)GGT>GAT	22	22			breast(1)	1	Broad	pregnancy upregulated non-ubiquitously expressed			152937465		0.662	ENSG00000130822	11947	g.chrX:152937465C>T		cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			91			91	19.94815	KEEP	5	5	-1	20	21	5	5	-1	23.51386	20	21	0.204545	1	0	0	0	0	1	0	0	0	--	--		0	T			PNCK_uc011myt.1_Missense_Mutation_p.G112D|PNCK_uc004fia.2_Missense_Mutation_p.G107D|PNCK_uc004fhz.3_Translation_Start_Site|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.1_Missense_Mutation_p.G122D|PNCK_uc011myw.1_Missense_Mutation_p.G122D	170	GBM-19-5950-TP	p.G178D	C	CAGCTCGCCACCCGTCACCCT	NM_001039582	NP_001034671	152937465	Q6P2M8	KCC1B_HUMAN	0			5	719	-	T	T	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	95			Protein kinase.			
PNISR	25957	broad.mit.edu	GRCh37	6	99856145	99856145	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01	TCGA-06-2562-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369239.5:c.676G>A	p.Ala226Thr	p.A226T	ENST00000369239	NM_032870.2	226	Gca/Aca	0			1			T	A/T	uc003ppo.3	protein_coding	YES	CCDS5043.1			676/2418										0	c.(676-678)GCA>ACA			hmmpanther:PTHR31518:SF2,hmmpanther:PTHR31518	splicing factor, arginine/serine-rich 130				ENSP00000358242		12-Jul									COSM2152763	12-Jul	.		ENST00000369239	Transcript				nuclear speck		ENSG00000132424	g.chr6:99856145C>T	21222			MODERATE		2.07	medium	getma.org/?cm=msa&ty=f&p=PNISR_HUMAN&rb=201&re=400&var=A226T	NA	getma.org/?cm=var&var=hg19,6,99856145,C,T&fts=all	A226T	--	--	1																																		SFRS18_uc003ppp.3_Missense_Mutation_p.A226T|SFRS18_uc011eag.1_Missense_Mutation_p.A226T|SFRS18_uc003ppr.2_Missense_Mutation_p.A226T	1	1		probably_damaging(0.999)	p.A226T	NM_032870	NP_116259		deleterious(0.04)	1	PNISR_HUMAN	PNISR	HGNC	Q8TF01	PNISR_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0631)	Q8TEZ9_HUMAN		7	904	-		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)	UPI000013E3A2	226					SNV	PNISR,missense_variant,p.Ala226Thr,ENST00000369239,NM_032870.2;PNISR,missense_variant,p.Ala226Thr,ENST00000438806,NM_015491.1;PNISR,splice_region_variant,,ENST00000463021,;PNISR,downstream_gene_variant,,ENST00000466057,;PNISR,upstream_gene_variant,,ENST00000460600,;PNISR,downstream_gene_variant,,ENST00000498075,;PNISR,downstream_gene_variant,,ENST00000492294,;PNISR,upstream_gene_variant,,ENST00000476159,;PNISR,missense_variant,p.Ala226Thr,ENST00000478777,;	uc003ppo.3	c.676G>A	881/5112	2	2			c.676G>A						6	SNP	c.(676-678)GCA>ACA	46	46				0	Broad	splicing factor, arginine/serine-rich 130			99856145		0.358	ENSG00000132424	13953	g.chr6:99856145C>T		nuclear speck								197.324437	KEEP	33	37	-1	78	92	33	37	-1	204.465682	78	92	0.309091	1	0	0	0	0	1	0	0	0	--	--		0	T			SFRS18_uc003ppp.3_Missense_Mutation_p.A226T|SFRS18_uc011eag.1_Missense_Mutation_p.A226T|SFRS18_uc003ppr.2_Missense_Mutation_p.A226T	85	GBM-06-2562-TP	p.A226T	C	CGTTTTACTGCGTCTGTTTCA	NM_032870	NP_116259	99856145	Q8TF01	PNISR_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.0631)	7	904	-	T	T		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)	Missense_Mutation	226						
PNKD	0	broad.mit.edu	GRCh37	2	219206751	219206751	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273077.4:c.665G>A	p.Arg222Gln	p.R222Q	ENST00000273077	NM_015488.4	222	cGg/cAg	0			1			A	R/Q	uc002vhn.2	protein_coding	YES	CCDS2411.1			665/1158										0	c.(664-666)CGG>CAG			Superfamily_domains:SSF56281,SMART_domains:SM00849,Gene3D:3.60.15.10,Pfam_domain:PF00753,TIGRFAM_domain:TIGR03413,hmmpanther:PTHR11935,hmmpanther:PTHR11935:SF88,HAMAP:MF_01374	myofibrillogenesis regulator 1 isoform 1				ENSP00000273077		10-Jul	2.47E-05	9.62E-05						0.000121	rs777574834,COSM1221335,COSM3407567	10-Jul	.		ENST00000273077	Transcript	1			membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding	ENSG00000127838	g.chr2:219206751G>A	9153			MODERATE		0.195	neutral	getma.org/?cm=msa&ty=f&p=PNKD_HUMAN&rb=125&re=291&var=R222Q	getma.org/pdb.php?prot=PNKD_HUMAN&from=125&to=291&var=R222Q	getma.org/?cm=var&var=hg19,2,219206751,G,A&fts=all	R222Q	--	--	1																																		PNKD_uc002vhq.2_Missense_Mutation_p.R198Q	0,1,1	1		benign(0.017)	p.R222Q	NM_015488	NP_056303		tolerated(0.16)	0,1,1	PNKD_HUMAN	PNKD	HGNC	Q8N490	PNKD_HUMAN		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)			7	809	+		Renal(207;0.0474)	UPI0000246C7E	222					SNV	PNKD,missense_variant,p.Arg222Gln,ENST00000273077,NM_015488.4;PNKD,missense_variant,p.Arg198Gln,ENST00000258362,NM_022572.4;PNKD,missense_variant,p.Arg162Gln,ENST00000436005,;AC021016.8,intron_variant,,ENST00000411433,;PNKD,downstream_gene_variant,,ENST00000483797,;	uc002vhn.2	c.665G>A	716/3021	2	2			c.665G>A						2	SNP	c.(664-666)CGG>CAG	47	47				0	Broad	myofibrillogenesis regulator 1 isoform 1			219206751		0.597	ENSG00000127838	11948	g.chr2:219206751G>A		membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding							78.521853	KEEP	15	17	-1	70	63	15	17	-1	89.046538	70	63	0.216783	1	0	0	0	0	1	0	0	0	--	--		0	A			PNKD_uc002vhq.2_Missense_Mutation_p.R198Q	220	GBM-28-5213-TP	p.R222Q	G	CTTCAGATCCGGGCCCTGGCT	NM_015488	NP_056303	219206751	Q8N490	PNKD_HUMAN	0		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	809	+	A	A		Renal(207;0.0474)	Missense_Mutation	222						
PNLDC1	154197	broad.mit.edu	GRCh37	6	160240368	160240368	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs138386704		TCGA-06-0650-01	TCGA-06-0650-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000610273.1:c.1483G>A	p.Val495Ile	p.V495I	ENST00000610273	NM_173516.2	495	Gtc/Atc	0	A:0.0005		1			A	V/I	uc003qsx.1	protein_coding	YES	CCDS64561.1			1483/1563										0	c.(1483-1485)GTC>ATC			hmmpanther:PTHR15092:SF8,hmmpanther:PTHR15092	poly(A)-specific ribonuclease (PARN)-like domain			A:0.0001	ENSP00000476448		18/19	6.59E-05	0.000199				9.19E-05			rs138386704,COSM483635	18/19	.		ENST00000610273	Transcript				integral to membrane|nucleus	nucleic acid binding	ENSG00000146453	g.chr6:160240368G>A	21185			MODERATE		0.145	neutral	getma.org/?cm=msa&ty=f&p=PNDC1_HUMAN&rb=365&re=520&var=V495I	NA	getma.org/?cm=var&var=hg19,6,160240368,G,A&fts=all	V495I	--	--	1																																		PNLDC1_uc003qsy.1_Missense_Mutation_p.V506I	0,1	1		benign(0.01)	p.V495I	NM_173516	NP_775787		tolerated(0.3)	0,1		PNLDC1	HGNC	Q8NA58	PNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)			18	1654	+		Breast(66;0.00519)|Ovarian(120;0.123)	UPI00000717EB	495			Helical; Anchor for type IV membrane protein; (Potential).		SNV	PNLDC1,missense_variant,p.Val495Ile,ENST00000610273,NM_173516.2;PNLDC1,missense_variant,p.Val506Ile,ENST00000392167,NM_001271862.1;PNLDC1,3_prime_UTR_variant,,ENST00000275275,;PNLDC1,downstream_gene_variant,,ENST00000609658,;	uc003qsx.1	c.1483G>A	1654/1920	2	2			c.1483G>A						6	SNP	c.(1483-1485)GTC>ATC	35	35				0	Broad	poly(A)-specific ribonuclease (PARN)-like domain			160240368		0.617	ENSG00000146453	11950	g.chr6:160240368G>A		integral to membrane|nucleus	nucleic acid binding							29.481873	KEEP	8	5	-1	18	25	8	5	-1	32.562263	18	25	0.24	1	0	0	0	0	1	0	0	0	--	--		0	A			PNLDC1_uc003qsy.1_Missense_Mutation_p.V506I	63	GBM-06-0650-TP	p.V495I	G	CTCCCCAAACGTCAACTGCCT	NM_173516	NP_775787	160240368	Q8NA58	PNDC1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	18	1654	+	A	A		Breast(66;0.00519)|Ovarian(120;0.123)	Missense_Mutation	495			Helical; Anchor for type IV membrane protein; (Potential).			
PNLDC1	154197		GRCh37	6	160240043	160240043	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000610273.1:c.1290G>A	p.Trp430Ter	p.W430*	ENST00000610273	NM_173516.2	430	tgG/tgA	0																																																																																																																																																																																																																																												
PNLIP	5406		GRCh37	10	118307871	118307871	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000369221.2:c.202-1G>A		p.X68_splice	ENST00000369221	NM_000936.2	68		0																																																																																																																																																																																																																																												
PNMA3	0	broad.mit.edu	GRCh37	X	152226004	152226004	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01	TCGA-27-2526-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000424805.1:c.592G>A	p.Glu198Lys	p.E198K	ENST00000424805		198	Gag/Aag	0			1			A	E/K	uc004fhc.2	nonsense_mediated_decay		CCDS35435.2			592/1392									skin(2)|large_intestine(1)	3	c.(592-594)GAG>AAG			Pfam_domain:PF14893,hmmpanther:PTHR23095,hmmpanther:PTHR23095:SF22	paraneoplastic cancer-testis-brain antigen				ENSP00000390576		3-Feb									COSM3235116,COSM3235115	3-Feb	.		ENST00000424805	Transcript			apoptosis	nucleolus	nucleic acid binding|zinc ion binding	ENSG00000183837	g.chrX:152226004G>A	18742			MODERATE		2.235	medium	getma.org/?cm=msa&ty=f&p=PNMA3_HUMAN&rb=1&re=461&var=E198K	NA	getma.org/?cm=var&var=hg19,X,152226004,G,A&fts=all	E198K	--	--	1																																		PNMA5_uc004fha.3_5'Flank|PNMA3_uc004fhd.2_5'Flank	1,1			probably_damaging(1)	p.E198K	NM_013364	NP_037496		deleterious(0)	1,1	PNMA3_HUMAN	PNMA3	HGNC	Q9UL41	PNMA3_HUMAN					2	928	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI00002123C6	198					SNV	PNMA3,missense_variant,p.Glu198Lys,ENST00000447306,NM_013364.4;PNMA3,missense_variant,p.Glu198Lys,ENST00000370265,NM_001282535.1;PNMA3,missense_variant,p.Glu198Lys,ENST00000370264,;PNMA3,missense_variant,p.Glu198Lys,ENST00000424805,;	uc004fhc.2	c.592G>A	855/3158	2	2			c.592G>A						23	SNP	c.(592-594)GAG>AAG	42	42			skin(2)|large_intestine(1)	3	Broad	paraneoplastic cancer-testis-brain antigen			152226004		0	ENSG00000183837	11957	g.chrX:152226004G>A	apoptosis	nucleolus	nucleic acid binding|zinc ion binding							187.560956	KEEP	34	35	-1	56	51	34	35	-1	188.590179	56	51	0.412903	1	0	0	0	0	1	0	0	0	--	--		0	A			PNMA5_uc004fha.3_5'Flank|PNMA3_uc004fhd.2_5'Flank	203	GBM-27-2526-TP	p.E198K	G	gcaggtgcccgagggggaaaa	NM_013364	NP_037496	152226004	Q9UL41	PNMA3_HUMAN	0			2	928	+	A	A	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	198						
PNMA5	0	broad.mit.edu	GRCh37	X	152159506	152159506	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-5139-01	TCGA-26-5139-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361887.5:c.637C>T	p.Arg213Trp	p.R213W	ENST00000361887	NM_052926.2	213	Cgg/Tgg	0			1			A	R/W	uc010ntw.2	protein_coding		CCDS14718.1			637/1347									ovary(1)|skin(1)	2	c.(637-639)CGG>TGG			Pfam_domain:PF14893,hmmpanther:PTHR23095,hmmpanther:PTHR23095:SF4	paraneoplastic antigen like 5				ENSP00000354834		2-Feb	8.25E-06			0.000151					rs782149050,COSM2157192	2-Feb	.		ENST00000361887	Transcript			apoptosis			ENSG00000198883	g.chrX:152159506G>A	18743			MODERATE		2.05	medium	getma.org/?cm=msa&ty=f&p=PNMA5_HUMAN&rb=1&re=332&var=R213W	NA	getma.org/?cm=var&var=hg19,X,152159506,G,A&fts=all	R213W	--	--	1																																		PNMA5_uc004fha.3_Missense_Mutation_p.R213W|PNMA5_uc010ntx.2_Missense_Mutation_p.R213W|PNMA5_uc004fgy.3_Missense_Mutation_p.R213W	0,1			possibly_damaging(0.606)	p.R213W	NM_001103151	NP_001096621		deleterious(0)	0,1	PNMA5_HUMAN	PNMA5	HGNC	Q96PV4	PNMA5_HUMAN			C9J4L3_HUMAN		3	976	-	Acute lymphoblastic leukemia(192;6.56e-05)		UPI0000070F7D	213					SNV	PNMA5,missense_variant,p.Arg213Trp,ENST00000439251,NM_001103150.1;PNMA5,missense_variant,p.Arg213Trp,ENST00000535214,NM_001184924.1;PNMA5,missense_variant,p.Arg213Trp,ENST00000361887,NM_052926.2;PNMA5,missense_variant,p.Arg213Trp,ENST00000452693,NM_001103151.1;PNMA5,downstream_gene_variant,,ENST00000437210,;RN7SL190P,downstream_gene_variant,,ENST00000582519,;	uc010ntw.2	c.637C>T	1059/3197	2	2			c.637C>T						23	SNP	c.(637-639)CGG>TGG	44	44			ovary(1)|skin(1)	2	Broad	paraneoplastic antigen like 5			152159506		0.527	ENSG00000198883	11958	g.chrX:152159506G>A	apoptosis									175.772829	KEEP	35	52	-1	94	86	35	52	-1	181.637331	94	86	0.334711	1	0	0	0	0	1	0	0	0	--	--		0	A			PNMA5_uc004fha.3_Missense_Mutation_p.R213W|PNMA5_uc010ntx.2_Missense_Mutation_p.R213W|PNMA5_uc004fgy.3_Missense_Mutation_p.R213W	186	GBM-26-5139-TP	p.R213W	G	TGGAGCACCCGCATGATTGAC	NM_001103151	NP_001096621	152159506	Q96PV4	PNMA5_HUMAN	0			3	976	-	A	A	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	213						
PNMAL1	0	broad.mit.edu	GRCh37	19	46973358	46973359	+	missense_variant	Missense_Mutation	DNP	CA	CA	AT			TCGA-02-2483-01	TCGA-02-2483-01	CA	CA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313683.10:c.934_935delinsAT	p.Trp312Met	p.W312M	ENST00000313683	NM_018215.3	312	TGg/ATg	0			1			AT	W/M	uc002peq.3	protein_coding	YES	CCDS33059.1			934-935/1320										0	c.(934-936)TGG>ATG			Pfam_domain:PF14893,hmmpanther:PTHR23095,hmmpanther:PTHR23095:SF21	PNMA-like 1 isoform a				ENSP00000318131		3-Feb										3-Feb	.		ENST00000313683	Transcript						ENSG00000182013	g.chr19:46973358_46973359CA>AT	25578			MODERATE								--	--	1																																		PNMAL1_uc002per.3_Missense_Mutation_p.W312M		1		possibly_damaging(0.848)	p.W312M	NM_018215	NP_060685		deleterious(0)		PNML1_HUMAN	PNMAL1	HGNC	Q86V59	PNML1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)			2	1240_1241	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	UPI0000231C97	312					substitution	PNMAL1,missense_variant,p.Trp312Met,ENST00000313683,NM_018215.3,NM_001103149.1;PNMAL1,missense_variant,p.Trp312Met,ENST00000438932,;PNMAL1,intron_variant,,ENST00000602246,;	uc002peq.3	c.934_935TG>AT	1240-1241/3689	2	2			c.934_935TG>AT						19	DNP	c.(934-936)TGG>ATG	42	42				0	Broad	PNMA-like 1 isoform a			46973359		0.584	ENSG00000182013	11959	g.chr19:46973358_46973359CA>AT										364.896659	KEEP	0	0	-1	0	0	0	0	-1	375.492352	0	0	0.328395	1	0	0	0	0	1	0	0	0	--	--		0	AT			PNMAL1_uc002per.3_Missense_Mutation_p.W312M	6	GBM-02-2483-TP	p.W312M	CA	GGGACCCTTCCAGGCACATTTC	NM_018215	NP_060685	46973358	Q86V59	PNML1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	2	1240_1241	-	AT	AT		Ovarian(192;0.00965)|all_neural(266;0.0459)	Missense_Mutation	312						
PNPLA1	285848	broad.mit.edu	GRCh37	6	36259268	36259268	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01	TCGA-06-2563-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394571.2:c.377G>A	p.Arg126His	p.R126H	ENST00000394571	NM_001145717.1	126	cGc/cAc	0			1			A	R/H	uc010jwf.2	protein_coding	YES	CCDS54997.1			377/1599									large_intestine(1)|pancreas(1)|breast(1)|skin(1)	4	c.(376-378)CGC>CAC			hmmpanther:PTHR12406,hmmpanther:PTHR12406:SF23,Gene3D:3.40.1090.10,Superfamily_domains:SSF52151	patatin-like phospholipase domain containing 1				ENSP00000378072		8-Feb	4.94E-05					9.14E-05			rs768351117,COSM288564,COSM2152893,COSM3411037	8-Feb	.		ENST00000394571	Transcript	1		lipid catabolic process		hydrolase activity	ENSG00000180316	g.chr6:36259268G>A	21246			MODERATE		2.165	medium	getma.org/?cm=msa&ty=f&p=PLPL1_HUMAN&rb=16&re=185&var=R126H	NA	getma.org/?cm=var&var=hg19,6,36259268,G,A&fts=all	R126H	--	--	1																																		PNPLA1_uc003olw.1_Missense_Mutation_p.R31H|PNPLA1_uc010jwe.1_Missense_Mutation_p.R31H	0,1,1,1	1		probably_damaging(0.996)	p.R126H	NM_001145717	NP_001139189		deleterious(0)	0,1,1,1	PLPL1_HUMAN	PNPLA1	HGNC	Q8N8W4	PLPL1_HUMAN			B8XXQ3_HUMAN		2	377	+			UPI000189560E	126			Patatin.		SNV	PNPLA1,missense_variant,p.Arg126His,ENST00000394571,NM_001145717.1;PNPLA1,missense_variant,p.Arg31His,ENST00000388715,NM_001145716.2,NM_173676.2;PNPLA1,missense_variant,p.Arg126His,ENST00000457797,;PNPLA1,missense_variant,p.Arg31His,ENST00000312917,;	uc010jwf.2	c.377G>A	377/2478	2	2			c.377G>A						6	SNP	c.(376-378)CGC>CAC	24	24			large_intestine(1)|pancreas(1)|breast(1)|skin(1)	4	Broad	patatin-like phospholipase domain containing 1			36259268		0.602	ENSG00000180316	11966	g.chr6:36259268G>A	lipid catabolic process		hydrolase activity							77.212349	KEEP	17	11	-1	22	18	17	11	-1	77.493151	22	18	0.428571	1	0	0	0	0	1	0	0	0	--	--		0	A			PNPLA1_uc003olw.1_Missense_Mutation_p.R31H|PNPLA1_uc010jwe.1_Missense_Mutation_p.R31H	86	GBM-06-2563-TP	p.R126H	G	AGCCTCACCCGCTTAACGGAC	NM_001145717	NP_001139189	36259268	Q8N8W4	PLPL1_HUMAN	0			2	377	+	A	A			Missense_Mutation	126			Patatin.			
PNPLA4	8228		GRCh37	X	7870101	7870101	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000381042.4:c.559C>T	p.Arg187Ter	p.R187*	ENST00000381042	NM_004650.2	187	Cga/Tga	0																																																																																																																																																																																																																																												
PNPLA5	150379	broad.mit.edu	GRCh37	22	44287074	44287074	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs79793310	byFrequency	TCGA-06-1804-01	TCGA-06-1804-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216177.4:c.294G>T	p.Gln98His	p.Q98H	ENST00000216177	NM_138814.3	98	caG/caT	0			1			A	Q/H	uc003beg.2	protein_coding	YES	CCDS14053.1			294/1290										0	c.(292-294)CAG>CAT			Pfam_domain:PF01734,hmmpanther:PTHR12406,hmmpanther:PTHR12406:SF4,Superfamily_domains:SSF52151	patatin-like phospholipase domain containing 5				ENSP00000216177		9-Feb									COSM2152491	9-Feb	.		ENST00000216177	Transcript			lipid catabolic process		hydrolase activity	ENSG00000100341	g.chr22:44287074C>A	24888			MODERATE		1.455	low	getma.org/?cm=msa&ty=f&p=PLPL5_HUMAN&rb=12&re=180&var=Q98H	NA	getma.org/?cm=var&var=hg19,22,44287074,C,A&fts=all	Q98H	--	--	1																																		PNPLA5_uc011aqc.1_5'UTR|PNPLA5_uc003beh.2_Intron	1	1		benign(0.005)	p.Q98H	NM_138814	NP_620169		tolerated(0.09)	1	PLPL5_HUMAN	PNPLA5	HGNC	Q7Z6Z6	PLPL5_HUMAN					2	391	-		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	UPI000006D0C8	98			Patatin.		SNV	PNPLA5,missense_variant,p.Gln98His,ENST00000216177,NM_138814.3;PNPLA5,missense_variant,p.Gln98His,ENST00000597664,;PNPLA5,missense_variant,p.Gln98His,ENST00000438734,;PNPLA5,intron_variant,,ENST00000593866,NM_001177675.1;PNPLA5,intron_variant,,ENST00000381198,;	uc003beg.2	c.294G>T	427/2539	2	2			c.294G>T						22	SNP	c.(292-294)CAG>CAT	42	42				0	Broad	patatin-like phospholipase domain containing 5			44287074		0.662	ENSG00000100341	11970	g.chr22:44287074C>A	lipid catabolic process		hydrolase activity							87.838909	KEEP	13	15	0.535714286	4	7	13	15	0.535714286	90.564305	4	7	0.794118	1	0	0	0	0	1	0	0	0	--	--		0	A			PNPLA5_uc011aqc.1_5'UTR|PNPLA5_uc003beh.2_Intron	79	GBM-06-1804-TP	p.Q98H	C	CCTGCAGCTGCTGCTTGACGT	NM_138814	NP_620169	44287074	Q7Z6Z6	PLPL5_HUMAN	0			2	391	-	A	A		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	Missense_Mutation	98			Patatin.			
PNPLA6	10908		GRCh37	19	7607932	7607932	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000414982.3:c.1597G>A	p.Ala533Thr	p.A533T	ENST00000414982	NM_001166111.1	533	Gcc/Acc	0																																																																																																																																																																																																																																												
PNPT1	87178		GRCh37	2	55874482	55874482	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000447944.2:c.1602G>C	p.Leu534Phe	p.L534F	ENST00000447944	NM_033109.4	534	ttG/ttC	0																																																																																																																																																																																																																																												
POC1A	0	broad.mit.edu	GRCh37	3	52156395	52156395	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T			TCGA-19-4068-01	TCGA-19-4068-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296484.2:c.981G>A	p.Leu327=	p.L327=	ENST00000296484	NM_015426.4	327	ctG/ctA	0			1			T	L	uc003dcu.2	protein_coding	YES	CCDS2846.1			981/1224										0	c.(979-981)CTG>CTA				WD repeat domain 51A isoform 1				ENSP00000296484		11-Sep									COSM3408780	11-Sep	.		ENST00000296484	Transcript	1			centriole|microtubule basal body		ENSG00000164087	g.chr3:52156395C>T	24488			LOW								--	--	1																																		POC1A_uc003dcv.2_Silent_p.L289L|POC1A_uc003dcw.2_Silent_p.L327L	1	1			p.L327L	NM_015426	NP_056241			1	POC1A_HUMAN	POC1A	HGNC	Q8NBT0	POC1A_HUMAN			B2RDV4_HUMAN		9	1299	-			UPI000045711C	327					SNV	POC1A,splice_region_variant,p.=,ENST00000394970,NM_001161580.1;POC1A,splice_region_variant,p.=,ENST00000296484,NM_015426.4;POC1A,splice_region_variant,p.=,ENST00000474012,NM_001161581.1;	uc003dcu.2	c.981G>A	1021/1898	1	1			c.981G>A						3	SNP	c.(979-981)CTG>CTA	16	16				0	Broad	WD repeat domain 51A isoform 1			52156395		0.547	ENSG00000164087	11977	g.chr3:52156395C>T		centriole|microtubule basal body								-12.635882	KEEP	2	1	-1	59	68	2	1	-1	6.729546	59	68	0.036145	1	0	0	0	0	0	0	1	0	--	--		0	T			POC1A_uc003dcv.2_Silent_p.L289L|POC1A_uc003dcw.2_Silent_p.L327L	168	GBM-19-4068-TP	p.L327L	C	AGCCACTTACCAGATTCCCCA	NM_015426	NP_056241	52156395	Q8NBT0	POC1A_HUMAN	0			9	1299	-	T	T			Silent	327						
POC1B	0	broad.mit.edu	GRCh37	12	89864247	89864247	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-4213-01	TCGA-32-4213-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313546.3:c.701T>C	p.Ile234Thr	p.I234T	ENST00000313546	NM_172240.2	234	aTa/aCa	0			1			G	I/T	uc001tbc.2	protein_coding	YES	CCDS31869.1			701/1437									ovary(1)	1	c.(700-702)ATA>ACA			Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,Pfam_domain:PF00400,hmmpanther:PTHR22847:SF318,hmmpanther:PTHR22847,PROSITE_profiles:PS50294,PROSITE_profiles:PS50082	WD repeat domain 51B				ENSP00000323302		12-Jul									COSM3399166	12-Jul	.		ENST00000313546	Transcript	1		cell projection organization	centriole|microtubule basal body		ENSG00000139323	g.chr12:89864247A>G	30836			MODERATE		1.84	low	getma.org/?cm=msa&ty=f&p=POC1B_HUMAN&rb=218&re=256&var=I234T	NA	getma.org/?cm=var&var=hg19,12,89864247,A,G&fts=all	I234T	--	--	1																																		POC1B_uc001tba.2_Missense_Mutation_p.I192T|POC1B_uc001tbb.2_Missense_Mutation_p.I104T|POC1B_uc010sun.1_RNA|POC1B_uc009zsp.2_RNA|POC1B_uc009zsq.2_Intron	1	1		benign(0.099)	p.I234T	NM_172240	NP_758440		deleterious(0.03)	1	POC1B_HUMAN	POC1B	HGNC	Q8TC44	POC1B_HUMAN			Q8IU52_HUMAN,F8VX21_HUMAN,A0MNP0_HUMAN		7	806	-			UPI000006E6B9	234			WD 6.		SNV	POC1B,missense_variant,p.Ile104Thr,ENST00000393179,;POC1B,missense_variant,p.Ile234Thr,ENST00000313546,NM_172240.2;POC1B,missense_variant,p.Ile192Thr,ENST00000549035,NM_001199777.1;POC1B,missense_variant,p.Ile104Thr,ENST00000541909,;POC1B,intron_variant,,ENST00000378528,;POC1B,intron_variant,,ENST00000549504,;POC1B,non_coding_transcript_exon_variant,,ENST00000549304,;POC1B,3_prime_UTR_variant,,ENST00000547496,;POC1B,non_coding_transcript_exon_variant,,ENST00000539190,;POC1B,intron_variant,,ENST00000548715,;POC1B,intron_variant,,ENST00000552563,;POC1B,upstream_gene_variant,,ENST00000551819,;	uc001tbc.2	c.701T>C	830/3001	3	3			c.701T>C						12	SNP	c.(700-702)ATA>ACA	15	15			ovary(1)	1	Broad	WD repeat domain 51B			89864247		0.388	ENSG00000139323	11978	g.chr12:89864247A>G	cell projection organization	centriole|microtubule basal body								194.93532	KEEP	45	27	-1	53	76	45	27	-1	198.294713	53	76	0.347561	1	0	0	0	0	1	0	0	0	--	--		0	G			POC1B_uc001tba.2_Missense_Mutation_p.I192T|POC1B_uc001tbb.2_Missense_Mutation_p.I104T|POC1B_uc010sun.1_RNA|POC1B_uc009zsp.2_RNA|POC1B_uc009zsq.2_Intron	247	GBM-32-4213-TP	p.I234T	A	ATGGAATGATATGCAATTAAC	NM_172240	NP_758440	89864247	Q8TC44	POC1B_HUMAN	0			7	806	-	G	G			Missense_Mutation	234			WD 6.			
PODNL1	79883	broad.mit.edu	GRCh37	19	14046616	14046616	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs142083249		TCGA-02-0003-01	TCGA-02-0003-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339560.5:c.433C>T	p.Arg145Trp	p.R145W	ENST00000339560	NM_024825.3	145	Cgg/Tgg	0	A:0		1			A	R/W	uc002mxr.2	protein_coding	YES	CCDS12300.1			433/1539									central_nervous_system(1)	1	c.(433-435)CGG>TGG			PROSITE_profiles:PS51450,hmmpanther:PTHR24369:SF59,hmmpanther:PTHR24369,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52047	podocan-like 1 isoform 1			A:0.0001	ENSP00000345175		8-May	1.65E-05					1.80E-05		7.11E-05	rs142083249,COSM2148921	8-May	.		ENST00000339560	Transcript				proteinaceous extracellular matrix		ENSG00000132000	g.chr19:14046616G>A	26275			MODERATE		2.25	medium	getma.org/?cm=msa&ty=f&p=PONL1_HUMAN&rb=137&re=196&var=R145W	NA	getma.org/?cm=var&var=hg19,19,14046616,G,A&fts=all	R145W	--	--	1																																		PODNL1_uc010xni.1_Missense_Mutation_p.R63W|PODNL1_uc010xnj.1_Missense_Mutation_p.R143W|PODNL1_uc002mxs.2_Intron	0,1	1		probably_damaging(0.952)	p.R145W	NM_024825	NP_079101		deleterious(0.01)	0,1	PONL1_HUMAN	PODNL1	HGNC	Q6PEZ8	PONL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)				5	707	-			UPI0000366D47	145			LRR 3.|Leu-rich.		SNV	PODNL1,missense_variant,p.Arg145Trp,ENST00000339560,NM_024825.3;PODNL1,missense_variant,p.Arg63Trp,ENST00000254320,;PODNL1,missense_variant,p.Arg143Trp,ENST00000538371,NM_001146254.1;PODNL1,intron_variant,,ENST00000538517,NM_001146255.1;PODNL1,intron_variant,,ENST00000586075,;PODNL1,intron_variant,,ENST00000588764,;PODNL1,intron_variant,,ENST00000585607,;CC2D1A,downstream_gene_variant,,ENST00000318003,NM_017721.4;CC2D1A,downstream_gene_variant,,ENST00000587508,;PODNL1,upstream_gene_variant,,ENST00000587954,;PODNL1,upstream_gene_variant,,ENST00000588872,;PODNL1,downstream_gene_variant,,ENST00000587458,;PODNL1,upstream_gene_variant,,ENST00000591353,;PODNL1,non_coding_transcript_exon_variant,,ENST00000587288,;CC2D1A,downstream_gene_variant,,ENST00000586955,;	uc002mxr.2	c.433C>T	707/2165	1	1			c.433C>T						19	SNP	c.(433-435)CGG>TGG	55	55			central_nervous_system(1)	1	Broad	podocan-like 1 isoform 1			14046616		0.657	ENSG00000132000	11981	g.chr19:14046616G>A		proteinaceous extracellular matrix								42.81564	KEEP	9	6	-1	15	16	9	6	-1	43.364083	15	16	0.375	1	0	0	0	0	1	0	0	0	--	--		0	A			PODNL1_uc010xni.1_Missense_Mutation_p.R63W|PODNL1_uc010xnj.1_Missense_Mutation_p.R143W|PODNL1_uc002mxs.2_Intron	1	GBM-02-0003-TP	p.R145W	G	CGGAGGGACCGGGGCAGAAAC	NM_024825	NP_079101	14046616	Q6PEZ8	PONL1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)		5	707	-	A	A			Missense_Mutation	145			LRR 3.|Leu-rich.			
PODNL1	79883	broad.mit.edu	GRCh37	19	14046600	14046600	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0211-01	TCGA-06-0211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339560.5:c.449C>T	p.Ala150Val	p.A150V	ENST00000339560	NM_024825.3	150	gCg/gTg	0			1			A	A/V	uc002mxr.2	protein_coding	YES	CCDS12300.1			449/1539									central_nervous_system(1)	1	c.(448-450)GCG>GTG			hmmpanther:PTHR24369:SF59,hmmpanther:PTHR24369,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	podocan-like 1 isoform 1				ENSP00000345175		8-May									COSM2150726	8-May	.		ENST00000339560	Transcript				proteinaceous extracellular matrix		ENSG00000132000	g.chr19:14046600G>A	26275			MODERATE		0.415	neutral	getma.org/?cm=msa&ty=f&p=PONL1_HUMAN&rb=137&re=196&var=A150V	NA	getma.org/?cm=var&var=hg19,19,14046600,G,A&fts=all	A150V	--	--	1																																		PODNL1_uc010xni.1_Missense_Mutation_p.A68V|PODNL1_uc010xnj.1_Missense_Mutation_p.A148V|PODNL1_uc002mxs.2_Intron	1	1		benign(0.062)	p.A150V	NM_024825	NP_079101		tolerated(0.5)	1	PONL1_HUMAN	PODNL1	HGNC	Q6PEZ8	PONL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)				5	723	-			UPI0000366D47	150			Leu-rich.|LRR 4.		SNV	PODNL1,missense_variant,p.Ala150Val,ENST00000339560,NM_024825.3;PODNL1,missense_variant,p.Ala68Val,ENST00000254320,;PODNL1,missense_variant,p.Ala148Val,ENST00000538371,NM_001146254.1;PODNL1,intron_variant,,ENST00000538517,NM_001146255.1;PODNL1,intron_variant,,ENST00000586075,;PODNL1,intron_variant,,ENST00000588764,;PODNL1,intron_variant,,ENST00000585607,;CC2D1A,downstream_gene_variant,,ENST00000318003,NM_017721.4;CC2D1A,downstream_gene_variant,,ENST00000587508,;PODNL1,upstream_gene_variant,,ENST00000587954,;PODNL1,upstream_gene_variant,,ENST00000588872,;PODNL1,downstream_gene_variant,,ENST00000587458,;PODNL1,upstream_gene_variant,,ENST00000591353,;PODNL1,non_coding_transcript_exon_variant,,ENST00000587288,;CC2D1A,downstream_gene_variant,,ENST00000586955,;	uc002mxr.2	c.449C>T	723/2165	2	2			c.449C>T						19	SNP	c.(448-450)GCG>GTG	27	27			central_nervous_system(1)	1	Broad	podocan-like 1 isoform 1			14046600		0.667	ENSG00000132000	11981	g.chr19:14046600G>A		proteinaceous extracellular matrix								55.994969	KEEP	10	10	-1	22	21	10	10	-1	56.78856	22	21	0.37037	1	0	0	0	0	1	0	0	0	--	--		0	A			PODNL1_uc010xni.1_Missense_Mutation_p.A68V|PODNL1_uc010xnj.1_Missense_Mutation_p.A148V|PODNL1_uc002mxs.2_Intron	48	GBM-06-0211-TP	p.A150V	G	AGCCAGATCCGCGACACGGAG	NM_024825	NP_079101	14046600	Q6PEZ8	PONL1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)		5	723	-	A	A			Missense_Mutation	150			Leu-rich.|LRR 4.			
PODNL1	79883	broad.mit.edu	GRCh37	19	14046600	14046600	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01	TCGA-06-0645-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339560.5:c.449C>T	p.Ala150Val	p.A150V	ENST00000339560	NM_024825.3	150	gCg/gTg	0			1			A	A/V	uc002mxr.2	protein_coding	YES	CCDS12300.1			449/1539									central_nervous_system(1)	1	c.(448-450)GCG>GTG			hmmpanther:PTHR24369:SF59,hmmpanther:PTHR24369,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	podocan-like 1 isoform 1				ENSP00000345175		8-May									COSM2150726	8-May	.		ENST00000339560	Transcript				proteinaceous extracellular matrix		ENSG00000132000	g.chr19:14046600G>A	26275			MODERATE		0.415	neutral	getma.org/?cm=msa&ty=f&p=PONL1_HUMAN&rb=137&re=196&var=A150V	NA	getma.org/?cm=var&var=hg19,19,14046600,G,A&fts=all	A150V	--	--	1																																		PODNL1_uc010xni.1_Missense_Mutation_p.A68V|PODNL1_uc010xnj.1_Missense_Mutation_p.A148V|PODNL1_uc002mxs.2_Intron	1	1		benign(0.062)	p.A150V	NM_024825	NP_079101		tolerated(0.5)	1	PONL1_HUMAN	PODNL1	HGNC	Q6PEZ8	PONL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)				5	723	-			UPI0000366D47	150			Leu-rich.|LRR 4.		SNV	PODNL1,missense_variant,p.Ala150Val,ENST00000339560,NM_024825.3;PODNL1,missense_variant,p.Ala68Val,ENST00000254320,;PODNL1,missense_variant,p.Ala148Val,ENST00000538371,NM_001146254.1;PODNL1,intron_variant,,ENST00000538517,NM_001146255.1;PODNL1,intron_variant,,ENST00000586075,;PODNL1,intron_variant,,ENST00000588764,;PODNL1,intron_variant,,ENST00000585607,;CC2D1A,downstream_gene_variant,,ENST00000318003,NM_017721.4;CC2D1A,downstream_gene_variant,,ENST00000587508,;PODNL1,upstream_gene_variant,,ENST00000587954,;PODNL1,upstream_gene_variant,,ENST00000588872,;PODNL1,downstream_gene_variant,,ENST00000587458,;PODNL1,upstream_gene_variant,,ENST00000591353,;PODNL1,non_coding_transcript_exon_variant,,ENST00000587288,;CC2D1A,downstream_gene_variant,,ENST00000586955,;	uc002mxr.2	c.449C>T	723/2165	2	2			c.449C>T						19	SNP	c.(448-450)GCG>GTG	27	27			central_nervous_system(1)	1	Broad	podocan-like 1 isoform 1			14046600		0.667	ENSG00000132000	11981	g.chr19:14046600G>A		proteinaceous extracellular matrix								19.582009	KEEP	1	8	-1	15	16	1	8	-1	21.761384	15	16	0.235294	1	0	0	0	0	1	0	0	0	--	--		0	A			PODNL1_uc010xni.1_Missense_Mutation_p.A68V|PODNL1_uc010xnj.1_Missense_Mutation_p.A148V|PODNL1_uc002mxs.2_Intron	59	GBM-06-0645-TP	p.A150V	G	AGCCAGATCCGCGACACGGAG	NM_024825	NP_079101	14046600	Q6PEZ8	PONL1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)		5	723	-	A	A			Missense_Mutation	150			Leu-rich.|LRR 4.			
PODNL1	0	broad.mit.edu	GRCh37	19	14046601	14046601	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs147712582	byFrequency	TCGA-26-5139-01	TCGA-26-5139-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339560.5:c.448G>A	p.Ala150Thr	p.A150T	ENST00000339560	NM_024825.3	150	Gcg/Acg	0	T:0.0009		1			T	A/T	uc002mxr.2	protein_coding	YES	CCDS12300.1			448/1539									central_nervous_system(1)	1	c.(448-450)GCG>ACG			hmmpanther:PTHR24369:SF59,hmmpanther:PTHR24369,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	podocan-like 1 isoform 1			T:0	ENSP00000345175		8-May	5.77E-05	0.000601				3.49E-05			rs147712582,COSM3403823	8-May	common_variant		ENST00000339560	Transcript				proteinaceous extracellular matrix		ENSG00000132000	g.chr19:14046601C>T	26275			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=PONL1_HUMAN&rb=137&re=196&var=A150T	NA	getma.org/?cm=var&var=hg19,19,14046601,C,T&fts=all	A150T	--	--	1																																		PODNL1_uc010xni.1_Missense_Mutation_p.A68T|PODNL1_uc010xnj.1_Missense_Mutation_p.A148T|PODNL1_uc002mxs.2_Intron	0,1	1		possibly_damaging(0.713)	p.A150T	NM_024825	NP_079101		tolerated(0.08)	0,1	PONL1_HUMAN	PODNL1	HGNC	Q6PEZ8	PONL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)				5	722	-			UPI0000366D47	150			Leu-rich.|LRR 4.		SNV	PODNL1,missense_variant,p.Ala150Thr,ENST00000339560,NM_024825.3;PODNL1,missense_variant,p.Ala68Thr,ENST00000254320,;PODNL1,missense_variant,p.Ala148Thr,ENST00000538371,NM_001146254.1;PODNL1,intron_variant,,ENST00000538517,NM_001146255.1;PODNL1,intron_variant,,ENST00000586075,;PODNL1,intron_variant,,ENST00000588764,;PODNL1,intron_variant,,ENST00000585607,;CC2D1A,downstream_gene_variant,,ENST00000318003,NM_017721.4;CC2D1A,downstream_gene_variant,,ENST00000587508,;PODNL1,upstream_gene_variant,,ENST00000587954,;PODNL1,upstream_gene_variant,,ENST00000588872,;PODNL1,downstream_gene_variant,,ENST00000587458,;PODNL1,upstream_gene_variant,,ENST00000591353,;PODNL1,non_coding_transcript_exon_variant,,ENST00000587288,;CC2D1A,downstream_gene_variant,,ENST00000586955,;	uc002mxr.2	c.448G>A	722/2165	2	2			c.448G>A						19	SNP	c.(448-450)GCG>ACG	40	40			central_nervous_system(1)	1	Broad	podocan-like 1 isoform 1			14046601		0.667	ENSG00000132000	11981	g.chr19:14046601C>T		proteinaceous extracellular matrix								3.010587	KEEP	2	5	-1	31	17	2	5	-1	10.351092	31	17	0.117647	1	0	0	0	0	1	0	0	0	--	--		0	T			PODNL1_uc010xni.1_Missense_Mutation_p.A68T|PODNL1_uc010xnj.1_Missense_Mutation_p.A148T|PODNL1_uc002mxs.2_Intron	186	GBM-26-5139-TP	p.A150T	C	GCCAGATCCGCGACACGGAGG	NM_024825	NP_079101	14046601	Q6PEZ8	PONL1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)		5	722	-	T	T			Missense_Mutation	150			Leu-rich.|LRR 4.			
PODXL	5420	broad.mit.edu	GRCh37	7	131195806	131195807	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0195-01	TCGA-06-0195-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378555.3:c.486dup	p.Ser163GlnfsTer12	p.S163Qfs*12	ENST00000378555		162	-/C	0			1			G	-/X	uc003vqw.3	protein_coding	YES	CCDS34755.1			486-487/1677									breast(2)|pancreas(1)	3	c.(484-489)AGCAGCfs			PIRSF_domain:PIRSF038143,hmmpanther:PTHR12067	podocalyxin-like isoform 1 precursor				ENSP00000367817		9-Feb										9-Feb	.		ENST00000378555	Transcript			cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		ENSG00000128567	g.chr7:131195806_131195807insG	9171			HIGH								--	--	1																																		PODXL_uc003vqx.3_Frame_Shift_Ins_p.S162fs		1			p.S162fs	NM_001018111	NP_001018121				PODXL_HUMAN	PODXL	HGNC	O00592	PODXL_HUMAN					2	744_745	-	Melanoma(18;0.162)		UPI000042467C	162_163			Thr-rich.|Extracellular (Potential).		insertion	PODXL,frameshift_variant,p.Ser165GlnfsTer12,ENST00000541194,NM_001018111.2;PODXL,frameshift_variant,p.Ser163GlnfsTer12,ENST00000537928,;PODXL,frameshift_variant,p.Ser163GlnfsTer12,ENST00000378555,;PODXL,frameshift_variant,p.Ser163GlnfsTer12,ENST00000322985,NM_005397.3;PODXL,downstream_gene_variant,,ENST00000465001,;PODXL,frameshift_variant,p.Ser163GlnfsTer12,ENST00000446198,;PODXL,upstream_gene_variant,,ENST00000487965,;PODXL,upstream_gene_variant,,ENST00000484346,;PODXL,upstream_gene_variant,,ENST00000482581,;PODXL,upstream_gene_variant,,ENST00000490761,;	uc003vqw.3	c.486_487insC	734-735/2105	5	5			c.486_487insC						7	INS	c.(484-489)AGCAGCfs	46	46			breast(2)|pancreas(1)	3	Broad	podocalyxin-like isoform 1 precursor			131195807		0.535	ENSG00000128567	11982	g.chr7:131195806_131195807insG	cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle																					0.01	1	0	0	1	1	0	0	0	0	--	--		0	G			PODXL_uc003vqx.3_Frame_Shift_Ins_p.S162fs	45	GBM-06-0195-TP	p.S162fs	-	ACACTGTGGCTGCTTTTCCCCC	NM_001018111	NP_001018121	131195806	O00592	PODXL_HUMAN	0			2	744_745	-	G	G	Melanoma(18;0.162)		Frame_Shift_Ins	162_163			Thr-rich.|Extracellular (Potential).			
PODXL	0	broad.mit.edu	GRCh37	7	131195806	131195807	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-19-4068-01	TCGA-19-4068-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378555.3:c.486dupC	p.Ser163GlnfsTer12	p.S163Qfs*12	ENST00000378555		162	-/C	0			1			G	-/X	uc003vqw.3	protein_coding	YES	CCDS34755.1			486-487/1677									breast(2)|pancreas(1)	3	c.(484-489)AGCAGCfs			PIRSF_domain:PIRSF038143,hmmpanther:PTHR12067	podocalyxin-like isoform 1 precursor				ENSP00000367817		9-Feb										9-Feb	.		ENST00000378555	Transcript			cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		ENSG00000128567	g.chr7:131195806_131195807insG	9171			HIGH								--	--	1																																		PODXL_uc003vqx.3_Frame_Shift_Ins_p.S162fs		1			p.S162fs	NM_001018111	NP_001018121				PODXL_HUMAN	PODXL	HGNC	O00592	PODXL_HUMAN					2	744_745	-	Melanoma(18;0.162)		UPI000042467C	162_163			Thr-rich.|Extracellular (Potential).		insertion	PODXL,frameshift_variant,p.Ser165GlnfsTer12,ENST00000541194,NM_001018111.2;PODXL,frameshift_variant,p.Ser163GlnfsTer12,ENST00000537928,;PODXL,frameshift_variant,p.Ser163GlnfsTer12,ENST00000378555,;PODXL,frameshift_variant,p.Ser163GlnfsTer12,ENST00000322985,NM_005397.3;PODXL,downstream_gene_variant,,ENST00000465001,;PODXL,frameshift_variant,p.Ser163GlnfsTer12,ENST00000446198,;PODXL,upstream_gene_variant,,ENST00000487965,;PODXL,upstream_gene_variant,,ENST00000484346,;PODXL,upstream_gene_variant,,ENST00000482581,;PODXL,upstream_gene_variant,,ENST00000490761,;	uc003vqw.3	c.486_487insC	734-735/2105	5	5			c.486_487insC						7	INS	c.(484-489)AGCAGCfs	46	46			breast(2)|pancreas(1)	3	Broad	podocalyxin-like isoform 1 precursor			131195807		0.535	ENSG00000128567	11982	g.chr7:131195806_131195807insG	cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle																					0.01	1	0	0	1	1	0	0	0	0	--	--		0	G			PODXL_uc003vqx.3_Frame_Shift_Ins_p.S162fs	168	GBM-19-4068-TP	p.S162fs	-	ACACTGTGGCTGCTTTTCCCCC	NM_001018111	NP_001018121	131195806	O00592	PODXL_HUMAN	0			2	744_745	-	G	G	Melanoma(18;0.162)		Frame_Shift_Ins	162_163			Thr-rich.|Extracellular (Potential).			
PODXL	0	broad.mit.edu	GRCh37	7	131195806	131195807	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-28-5215-01	TCGA-28-5215-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378555.3:c.486dupC	p.Ser163GlnfsTer12	p.S163Qfs*12	ENST00000378555		162	-/C	0			1			G	-/X	uc003vqw.3	protein_coding	YES	CCDS34755.1			486-487/1677									breast(2)|pancreas(1)	3	c.(484-489)AGCAGCfs			PIRSF_domain:PIRSF038143,hmmpanther:PTHR12067	podocalyxin-like isoform 1 precursor				ENSP00000367817		9-Feb										9-Feb	.		ENST00000378555	Transcript			cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		ENSG00000128567	g.chr7:131195806_131195807insG	9171			HIGH								--	--	1																																		PODXL_uc003vqx.3_Frame_Shift_Ins_p.S162fs		1			p.S162fs	NM_001018111	NP_001018121				PODXL_HUMAN	PODXL	HGNC	O00592	PODXL_HUMAN					2	744_745	-	Melanoma(18;0.162)		UPI000042467C	162_163			Thr-rich.|Extracellular (Potential).		insertion	PODXL,frameshift_variant,p.Ser165GlnfsTer12,ENST00000541194,NM_001018111.2;PODXL,frameshift_variant,p.Ser163GlnfsTer12,ENST00000537928,;PODXL,frameshift_variant,p.Ser163GlnfsTer12,ENST00000378555,;PODXL,frameshift_variant,p.Ser163GlnfsTer12,ENST00000322985,NM_005397.3;PODXL,downstream_gene_variant,,ENST00000465001,;PODXL,frameshift_variant,p.Ser163GlnfsTer12,ENST00000446198,;PODXL,upstream_gene_variant,,ENST00000487965,;PODXL,upstream_gene_variant,,ENST00000484346,;PODXL,upstream_gene_variant,,ENST00000482581,;PODXL,upstream_gene_variant,,ENST00000490761,;	uc003vqw.3	c.486_487insC	734-735/2105	5	5			c.486_487insC						7	INS	c.(484-489)AGCAGCfs	46	46			breast(2)|pancreas(1)	3	Broad	podocalyxin-like isoform 1 precursor			131195807		0.535	ENSG00000128567	11982	g.chr7:131195806_131195807insG	cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle																					0.01	1	0	0	1	1	0	0	0	0	--	--		0	G			PODXL_uc003vqx.3_Frame_Shift_Ins_p.S162fs	222	GBM-28-5215-TP	p.S162fs	-	ACACTGTGGCTGCTTTTCCCCC	NM_001018111	NP_001018121	131195806	O00592	PODXL_HUMAN	0			2	744_745	-	G	G	Melanoma(18;0.162)		Frame_Shift_Ins	162_163			Thr-rich.|Extracellular (Potential).			
POF1B	79983	broad.mit.edu	GRCh37	X	84634326	84634326	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-2563-01	TCGA-06-2563-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262753.4:c.134A>G	p.Lys45Arg	p.K45R	ENST00000262753	NM_024921.3	45	aAa/aGa	0			1			C	K/R	uc004eer.2	protein_coding	YES	CCDS14452.1			134/1770										0	c.(133-135)AAA>AGA			hmmpanther:PTHR22546	premature ovarian failure, 1B				ENSP00000262753		17-Feb									COSM2152863,COSM3406643	17-Feb	.		ENST00000262753	Transcript	1				actin binding	ENSG00000124429	g.chrX:84634326T>C	13711			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=POF1B_HUMAN&rb=1&re=586&var=K45R	NA	getma.org/?cm=var&var=hg19,X,84634326,T,C&fts=all	K45R	--	--	1																																		POF1B_uc004ees.2_Missense_Mutation_p.K45R	1,1	1		probably_damaging(0.997)	p.K45R	NM_024921	NP_079197		deleterious_low_confidence(0.01)	1,1	POF1B_HUMAN	POF1B	HGNC	Q8WVV4	POF1B_HUMAN					2	280	-			UPI0000212116	45					SNV	POF1B,missense_variant,p.Lys45Arg,ENST00000262753,NM_024921.3;POF1B,missense_variant,p.Lys45Arg,ENST00000373145,;	uc004eer.2	c.134A>G	280/3941	3	3			c.134A>G						23	SNP	c.(133-135)AAA>AGA	3	3				0	Broad	premature ovarian failure, 1B			84634326		0.577	ENSG00000124429	11984	g.chrX:84634326T>C			actin binding							56.660035	KEEP	10	12	-1	22	15	10	12	-1	57.673495	22	15	0.346939	1	0	0	0	0	1	0	0	0	--	--		0	C			POF1B_uc004ees.2_Missense_Mutation_p.K45R	86	GBM-06-2563-TP	p.K45R	T	CACTACATTTTTTTCTGGAGG	NM_024921	NP_079197	84634326	Q8WVV4	POF1B_HUMAN	0			2	280	-	C	C			Missense_Mutation	45						
POFUT2	0	broad.mit.edu	GRCh37	21	46689872	46689872	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5954-01	TCGA-19-5954-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000349485.5:c.894C>T	p.Phe298=	p.F298=	ENST00000349485	NM_133635.4	298	ttC/ttT	0			1			A	F	uc002zhc.2	protein_coding	YES	CCDS13719.1			894/1290										0	c.(892-894)TTC>TTT			hmmpanther:PTHR13398,Pfam_domain:PF10250	protein O-fucosyltransferase 2 isoform C				ENSP00000339613		9-Jul									COSM2156726,COSM2156725	9-Jul	.		ENST00000349485	Transcript			fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity	ENSG00000186866	g.chr21:46689872G>A	14683			LOW								--	--	1																																		POFUT2_uc002zha.2_RNA|POFUT2_uc002zhb.2_RNA|POFUT2_uc002zhd.2_Silent_p.F298F	1,1	1			p.F298F	NM_133635	NP_598368			1,1	OFUT2_HUMAN	POFUT2	HGNC	Q9Y2G5	OFUT2_HUMAN		Colorectal(79;0.243)	B4DNV6_HUMAN		7	919	-			UPI000013E77F	298					SNV	POFUT2,synonymous_variant,p.=,ENST00000331343,NM_015227.4;POFUT2,synonymous_variant,p.=,ENST00000349485,NM_133635.4;POFUT2,synonymous_variant,p.=,ENST00000451615,;POFUT2,non_coding_transcript_exon_variant,,ENST00000471540,;POFUT2,non_coding_transcript_exon_variant,,ENST00000493524,;POFUT2,non_coding_transcript_exon_variant,,ENST00000468360,;POFUT2,non_coding_transcript_exon_variant,,ENST00000460932,;POFUT2,non_coding_transcript_exon_variant,,ENST00000463917,;POFUT2,upstream_gene_variant,,ENST00000485190,;POFUT2,synonymous_variant,p.=,ENST00000334538,;	uc002zhc.2	c.894C>T	921/2871	1	1			c.894C>T						21	SNP	c.(892-894)TTC>TTT	51	51				0	Broad	protein O-fucosyltransferase 2 isoform C			46689872		0.572	ENSG00000186866	11986	g.chr21:46689872G>A	fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity							149.681316	KEEP	27	25	-1	19	29	27	25	-1	149.740373	19	29	0.526882	1	0	0	0	0	0	0	1	0	--	--		0	A			POFUT2_uc002zha.2_RNA|POFUT2_uc002zhb.2_RNA|POFUT2_uc002zhd.2_Silent_p.F298F	174	GBM-19-5954-TP	p.F298F	G	GACCCCAGATGAAATCTTTTC	NM_133635	NP_598368	46689872	Q9Y2G5	OFUT2_HUMAN	0		Colorectal(79;0.243)	7	919	-	A	A			Silent	298						
POLA1	0	broad.mit.edu	GRCh37	X	24759540	24759540	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379059.3:c.2247C>T	p.Ala749=	p.A749=	ENST00000379059	NM_016937.3	749	gcC/gcT	0			1			T	A	uc004dbl.2	protein_coding	YES	CCDS14214.1			2247/4389									ovary(2)|skin(1)	3	c.(2245-2247)GCC>GCT			hmmpanther:PTHR10322,hmmpanther:PTHR10322:SF18,Gene3D:3.30.420.10,TIGRFAM_domain:TIGR00592,SMART_domains:SM00486,Superfamily_domains:SSF53098	DNA-directed DNA polymerase alpha 1	Clofarabine(DB00631)|Fludarabine(DB01073)			ENSP00000368349		21/37									COSM2154251	21/37	.		ENST00000379059	Transcript			cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	ENSG00000101868	g.chrX:24759540C>T	9173			LOW								--	--	1																																			1	1			p.A749A	NM_016937	NP_058633			1	DPOLA_HUMAN	POLA1	HGNC	P09884	DPOLA_HUMAN					21	2270	+			UPI000014D383	749					SNV	POLA1,synonymous_variant,p.=,ENST00000379068,;POLA1,synonymous_variant,p.=,ENST00000379059,NM_016937.3;SCARNA23,upstream_gene_variant,,ENST00000516060,;POLA1,upstream_gene_variant,,ENST00000480125,;	uc004dbl.2	c.2247C>T	2262/5440	2	2			c.2247C>T						23	SNP	c.(2245-2247)GCC>GCT	18	18			ovary(2)|skin(1)	3	Broad	DNA-directed DNA polymerase alpha 1		Clofarabine(DB00631)|Fludarabine(DB01073)	24759540		0.348	ENSG00000101868	11989	g.chrX:24759540C>T	cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding							178.068975	KEEP	40	20	-1	51	42	40	20	-1	179.374294	51	42	0.397163	1	0	0	0	0	0	0	1	0	--	--		0	T				122	GBM-12-0692-TP	p.A749A	C	GGAAAGATGCCAAGTTCATTT	NM_016937	NP_058633	24759540	P09884	DPOLA_HUMAN	0			21	2270	+	T	T			Silent	749						
POLA1	0	broad.mit.edu	GRCh37	X	24766501	24766501	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379059.3:c.2747G>A	p.Arg916Gln	p.R916Q	ENST00000379059	NM_016937.3	916	cGg/cAg	0			1			A	R/Q	uc004dbl.2	protein_coding	YES	CCDS14214.1			2747/4389									ovary(2)|skin(1)	3	c.(2746-2748)CGG>CAG			hmmpanther:PTHR10322,hmmpanther:PTHR10322:SF18,TIGRFAM_domain:TIGR00592,Pfam_domain:PF00136,Gene3D:1.10.287.690,SMART_domains:SM00486,Superfamily_domains:SSF56672	DNA-directed DNA polymerase alpha 1	Clofarabine(DB00631)|Fludarabine(DB01073)			ENSP00000368349		25/37	8.24E-06		0.000109						rs771556456,COSM756449	25/37	.		ENST00000379059	Transcript			cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	ENSG00000101868	g.chrX:24766501G>A	9173			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=DPOLA_HUMAN&rb=783&re=1246&var=R916Q	getma.org/pdb.php?prot=DPOLA_HUMAN&from=783&to=1246&var=R916Q	getma.org/?cm=var&var=hg19,X,24766501,G,A&fts=all	R916Q	--	--	1																																			0,1	1		probably_damaging(0.938)	p.R916Q	NM_016937	NP_058633		deleterious(0.01)	0,1	DPOLA_HUMAN	POLA1	HGNC	P09884	DPOLA_HUMAN					25	2770	+			UPI000014D383	916					SNV	POLA1,missense_variant,p.Arg922Gln,ENST00000379068,;POLA1,missense_variant,p.Arg916Gln,ENST00000379059,NM_016937.3;SCARNA23,downstream_gene_variant,,ENST00000516060,;POLA1,non_coding_transcript_exon_variant,,ENST00000480125,;	uc004dbl.2	c.2747G>A	2762/5440	1	1			c.2747G>A						23	SNP	c.(2746-2748)CGG>CAG	52	52			ovary(2)|skin(1)	3	Broad	DNA-directed DNA polymerase alpha 1		Clofarabine(DB00631)|Fludarabine(DB01073)	24766501		0.284	ENSG00000101868	11989	g.chrX:24766501G>A	cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding							11.675455	KEEP	5	6	-1	53	44	5	6	-1	27.207999	53	44	0.107843	1	0	0	0	0	1	0	0	0	--	--		0	A				213	GBM-28-2513-TP	p.R916Q	G	AGAGAGATCCGGAAACTGGTA	NM_016937	NP_058633	24766501	P09884	DPOLA_HUMAN	0			25	2770	+	A	A			Missense_Mutation	916						
POLA2	0	broad.mit.edu	GRCh37	11	65048610	65048610	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-27-1835-01	TCGA-27-1835-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265465.3:c.892C>A	p.Pro298Thr	p.P298T	ENST00000265465	NM_002689.2	298	Cct/Act	0			1			A	P/T	uc001odj.2	protein_coding	YES	CCDS8098.1			892/1797										0	c.(892-894)CCT>ACT			PIRSF_domain:PIRSF018300,hmmpanther:PTHR23061,hmmpanther:PTHR23061:SF12	DNA-directed DNA polymerase alpha 2	Dacarbazine(DB00851)			ENSP00000265465		18-Aug									COSM2157251,COSM2157250,COSM3398043	18-Aug	.		ENST00000265465	Transcript			DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding	ENSG00000014138	g.chr11:65048610C>A	30073			MODERATE		3.35	medium	getma.org/?cm=msa&ty=f&p=DPOA2_HUMAN&rb=249&re=341&var=P298T	getma.org/pdb.php?prot=DPOA2_HUMAN&from=249&to=341&var=P298T	getma.org/?cm=var&var=hg19,11,65048610,C,A&fts=all	P298T	--	--	1																																		POLA2_uc010rod.1_Missense_Mutation_p.P90T|POLA2_uc001odk.2_5'UTR	1,1,1	1		probably_damaging(0.95)	p.P298T	NM_002689	NP_002680		deleterious(0)	1,1,1	DPOA2_HUMAN	POLA2	HGNC	Q14181	DPOA2_HUMAN			E9PIQ6_HUMAN,B3KSX6_HUMAN		8	1234	+			UPI000007375F	298					SNV	POLA2,missense_variant,p.Pro298Thr,ENST00000265465,NM_002689.2;POLA2,missense_variant,p.Pro90Thr,ENST00000541089,;POLA2,upstream_gene_variant,,ENST00000525924,;POLA2,downstream_gene_variant,,ENST00000532391,;POLA2,3_prime_UTR_variant,,ENST00000527850,;POLA2,non_coding_transcript_exon_variant,,ENST00000527618,;POLA2,downstream_gene_variant,,ENST00000532469,;	uc001odj.2	c.892C>A	1423/3744	2	2			c.892C>A						11	SNP	c.(892-894)CCT>ACT	33	33				0	Broad	DNA-directed DNA polymerase alpha 2		Dacarbazine(DB00851)	65048610		0.512	ENSG00000014138	11990	g.chr11:65048610C>A	DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding							153.398783	KEEP	32	31	0.492063492	44	56	32	31	0.492063492	154.720945	44	56	0.395683	1	0	0	0	0	1	0	0	0	--	--		0	A			POLA2_uc010rod.1_Missense_Mutation_p.P90T|POLA2_uc001odk.2_5'UTR	194	GBM-27-1835-TP	p.P298T	C	TTCTCTGTTTCCTGGACAGGT	NM_002689	NP_002680	65048610	Q14181	DPOA2_HUMAN	0			8	1234	+	A	A			Missense_Mutation	298						
POLB	0	broad.mit.edu	GRCh37	8	42220141	42220141	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-41-2573-01	TCGA-41-2573-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265421.4:c.633A>G	p.Leu211=	p.L211=	ENST00000265421	NM_002690.2	211	ttA/ttG	0			1			G	L	uc003xoz.1	protein_coding	YES	CCDS6129.1			633/1008									ovary(1)|breast(1)	2	c.(631-633)TTA>TTG		DNA_polymerases_(catalytic_subunits)	Gene3D:3.30.460.10,Pfam_domain:PF14792,hmmpanther:PTHR11276,SMART_domains:SM00483,Superfamily_domains:SSF81301	DNA-directed DNA polymerase beta	Cytarabine(DB00987)			ENSP00000265421		14-Nov	8.24E-06		8.66E-05						rs750255941,COSM3413030,COSM3413031	14-Nov	.		ENST00000265421	Transcript			DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding	ENSG00000070501	g.chr8:42220141A>G	9174			LOW								--	--	1																																		POLB_uc003xpa.1_Intron|POLB_uc011lcs.1_Silent_p.L57L	0,1,1	1			p.L211L	NM_002690	NP_002681			0,1,1	DPOLB_HUMAN	POLB	HGNC	P06746	DPOLB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Q6LBJ9_HUMAN,E5RJ55_HUMAN,E5RHZ4_HUMAN,B7Z1W5_HUMAN		11	746	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	UPI000013D61E	211					SNV	POLB,synonymous_variant,p.=,ENST00000265421,NM_002690.2;POLB,synonymous_variant,p.=,ENST00000538005,;POLB,synonymous_variant,p.=,ENST00000518925,;POLB,synonymous_variant,p.=,ENST00000518579,;POLB,synonymous_variant,p.=,ENST00000517393,;POLB,intron_variant,,ENST00000521290,;POLB,downstream_gene_variant,,ENST00000520008,;POLB,3_prime_UTR_variant,,ENST00000522610,;POLB,3_prime_UTR_variant,,ENST00000519771,;POLB,3_prime_UTR_variant,,ENST00000524208,;POLB,downstream_gene_variant,,ENST00000519524,;POLB,downstream_gene_variant,,ENST00000523465,;	uc003xoz.1	c.633A>G	803/1329	4	4			c.633A>G						8	SNP	c.(631-633)TTA>TTG	32	32			ovary(1)|breast(1)	2	Broad	DNA-directed DNA polymerase beta	DNA_polymerases_(catalytic_subunits)	Cytarabine(DB00987)	42220141		0.303	ENSG00000070501	11991	g.chr8:42220141A>G	DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding							179.782869	KEEP	32	27	-1	61	27	32	27	-1	181.16432	61	27	0.387097	1	0	0	0	0	0	0	1	0	--	--		0	G			POLB_uc003xpa.1_Intron|POLB_uc011lcs.1_Silent_p.L57L	252	GBM-41-2573-TP	p.L211L	A	CAAAACTGTTACATCAGGTTG	NM_002690	NP_002681	42220141	P06746	DPOLB_HUMAN	0	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		11	746	+	G	G	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Silent	211						
POLDIP2	26073	broad.mit.edu	GRCh37	17	26675209	26675209	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-5417-01	TCGA-06-5417-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000540200.1:c.1038G>T	p.Arg346=	p.R346=	ENST00000540200	NM_015584.3	346	cgG/cgT	0			1			A	R	uc002haz.2	protein_coding	YES				1038/1104										0	c.(1039-1041)CGG>CGT			PROSITE_profiles:PS51087,hmmpanther:PTHR14289,Gene3D:1xvsA00,Superfamily_domains:SSF110069	DNA polymerase delta interacting protein 2				ENSP00000475924		12-Dec										12-Dec	.		ENST00000540200	Transcript				mitochondrial nucleoid|nucleus		ENSG00000004142	g.chr17:26675209C>A	23781			LOW								--	--	1																																		POLDIP2_uc010wag.1_RNA		1			p.R347R	NM_015584	NP_056399					POLDIP2	HGNC	Q9Y2S7	PDIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	U3KQJ1_HUMAN,Q9UG21_HUMAN		14	1173	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)		UPI000013C4D8	347			ApaG.		SNV	POLDIP2,synonymous_variant,p.=,ENST00000540200,NM_015584.3;TNFAIP1,downstream_gene_variant,,ENST00000226225,NM_021137.4;TNFAIP1,downstream_gene_variant,,ENST00000544907,;POLDIP2,non_coding_transcript_exon_variant,,ENST00000003607,;TNFAIP1,downstream_gene_variant,,ENST00000583213,;	uc002haz.2	c.1041G>T	1038/2588	1	1			c.1041G>T						17	SNP	c.(1039-1041)CGG>CGT	63	63				0	Broad	DNA polymerase delta interacting protein 2			26675209		0.547	ENSG00000004142	11996	g.chr17:26675209C>A		mitochondrial nucleoid|nucleus								69.760451	KEEP	13	17	0.566666667	27	23	13	17	0.566666667	70.347532	27	23	0.396825	1	0	0	0	0	0	0	1	0	--	--		0	A			POLDIP2_uc010wag.1_RNA	99	GBM-06-5417-TP	p.R347R	C	AGGGAGGAATCCGAACATCAA	NM_015584	NP_056399	26675209	Q9Y2S7	PDIP2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	14	1173	-	A	A	all_lung(13;0.000354)|Lung NSC(42;0.00115)		Silent	347			ApaG.			
POLE	0	broad.mit.edu	GRCh37	12	133220099	133220100	+	frameshift_variant	Frame_Shift_Del	DEL	CA	CA	-			TCGA-16-0846-01	TCGA-16-0846-01	CA	CA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320574.5:c.4337_4338delTG	p.Val1446GlyfsTer3	p.V1446Gfs*3	ENST00000320574	NM_006231.2	1446	gTG/g	0			1			-	V/X	uc001uks.1	protein_coding	YES	CCDS9278.1			4337-4338/6861									ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	c.(4336-4338)GTGfs		DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	hmmpanther:PTHR10670,hmmpanther:PTHR10670:SF0	DNA-directed DNA polymerase epsilon				ENSP00000322570		34/49	0.000132	0.000289		0.000116		0.00015		0.000121	rs758487568,COSM1745059,COSM1745060	34/49	.		ENST00000320574	Transcript	1		base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	ENSG00000177084	g.chr12:133220099_133220100delCA	9177			HIGH								--	--	1																																		POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Frame_Shift_Del_p.V250fs|POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Frame_Shift_Del_p.V1419fs	0,1,1	1			p.V1446fs	NM_006231	NP_006222			0,1,1	DPOE1_HUMAN	POLE	HGNC	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Q9UNE8_HUMAN,Q96IE1_HUMAN,Q8WU23_HUMAN,F5H7H6_HUMAN,F5H5Q5_HUMAN,F5H3W5_HUMAN,F5H0H8_HUMAN,D3DXI9_HUMAN		34	4381_4382	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	UPI00001FBF97	1446					deletion	POLE,frameshift_variant,p.Val1446GlyfsTer3,ENST00000320574,NM_006231.2;POLE,frameshift_variant,p.Val1419GlyfsTer3,ENST00000535270,;POLE,upstream_gene_variant,,ENST00000434528,;POLE,3_prime_UTR_variant,,ENST00000537064,;POLE,upstream_gene_variant,,ENST00000541213,;POLE,upstream_gene_variant,,ENST00000542362,;	uc001uks.1	c.4337_4338delTG	4381-4382/7840	5	5			c.4337_4338delTG						12	DEL	c.(4336-4338)GTGfs	NaN	0			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	Broad	DNA-directed DNA polymerase epsilon	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage		133220100		0.604	ENSG00000177084	11998	g.chr12:133220099_133220100delCA	base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding																				0.02	1	1	0	1	0	0	0	0	0	--	--		0	-			POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Frame_Shift_Del_p.V250fs|POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Frame_Shift_Del_p.V1419fs	155	GBM-16-0846-TP	p.V1446fs	CA	GTTTATTGACCACACACACACA	NM_006231	NP_006222	133220099	Q07864	DPOE1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	34	4381_4382	-	-	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	Frame_Shift_Del	1446						
POLG	0	broad.mit.edu	GRCh37	15	89876416	89876416	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-6450-01	TCGA-28-6450-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268124.5:c.570C>T	p.Pro190=	p.P190=	ENST00000268124	NM_001126131.1	190	ccC/ccT	0			1			A	P	uc002bns.3	protein_coding	YES	CCDS10350.1			570/3720									ovary(1)|lung(1)	2	c.(568-570)CCC>CCT		DNA_polymerases_(catalytic_subunits)	PIRSF_domain:PIRSF000797,hmmpanther:PTHR10267,hmmpanther:PTHR10267:SF0,Superfamily_domains:SSF53098	DNA-directed DNA polymerase gamma				ENSP00000268124		23-Feb									COSM3402000	23-Feb	.		ENST00000268124	Transcript	1		base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	ENSG00000140521	g.chr15:89876416G>A	9179			LOW								--	--	1																																		POLG_uc002bnr.3_Silent_p.P190P	1	1			p.P190P	NM_002693	NP_002684			1	DPOG1_HUMAN	POLG	HGNC	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		E5KNU5_HUMAN,Q6LCA9_HUMAN,Q2V8X9_HUMAN		2	852	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		UPI000000D9E8	190					SNV	POLG,synonymous_variant,p.=,ENST00000268124,NM_001126131.1,NM_002693.2;POLG,synonymous_variant,p.=,ENST00000442287,;RP11-217B1.2,upstream_gene_variant,,ENST00000569473,;RP11-217B1.2,upstream_gene_variant,,ENST00000562356,;POLG,non_coding_transcript_exon_variant,,ENST00000525806,;POLG,upstream_gene_variant,,ENST00000532363,;	uc002bns.3	c.570C>T	904/4502	2	2			c.570C>T						15	SNP	c.(568-570)CCC>CCT	27	27			ovary(1)|lung(1)	2	Broad	DNA-directed DNA polymerase gamma	DNA_polymerases_(catalytic_subunits)		89876416		0.711	ENSG00000140521	12002	g.chr15:89876416G>A	base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	Colon(73;648 1203 11348 18386 27782)			Colon(73;648 1203 11348 18386 27782)			17.536271	KEEP	2	5	-1	4	6	2	5	-1	17.670133	4	6	0.4	1	0	0	0	0	0	0	1	0	--	--		0	A			POLG_uc002bnr.3_Silent_p.P190P	227	GBM-28-6450-TP	p.P190P	G	CCCGCTCCTCGGGGATGGCCA	NM_002693	NP_002684	89876416	P54098	DPOG1_HUMAN	0	STAD - Stomach adenocarcinoma(125;0.165)		2	852	-	A	A	Lung NSC(78;0.0472)|all_lung(78;0.089)		Silent	190						
POLI	11201	broad.mit.edu	GRCh37	18	51809324	51809324	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs146107490		TCGA-06-2564-01	TCGA-06-2564-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000579534.1:c.914G>A	p.Arg305His	p.R305H	ENST00000579534	NM_007195.2	305	cGt/cAt	0	A:0.0002		1			A	R/H	uc002lfj.3	protein_coding	YES	CCDS11954.2			914/2223									ovary(2)|kidney(1)	3	c.(913-915)CGT>CAT		DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	hmmpanther:PTHR11076:SF10,hmmpanther:PTHR11076,Gene3D:1.10.150.20,Superfamily_domains:SSF56672	DNA polymerase iota			A:0	ENSP00000462664		10-Jun	8.24E-05			0.00015		0.000146			rs146107490,COSM3403565,COSM3403564	10-Jun	.		ENST00000579534	Transcript			DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	ENSG00000101751	g.chr18:51809324G>A	9182			MODERATE		2.39	medium	getma.org/?cm=msa&ty=f&p=POLI_HUMAN&rb=292&re=427&var=R305H	getma.org/pdb.php?prot=POLI_HUMAN&from=292&to=427&var=R305H	getma.org/?cm=var&var=hg19,18,51809324,G,A&fts=all	R305H	--	--	1																																		POLI_uc010xds.1_Missense_Mutation_p.R226H|POLI_uc002lfk.3_Missense_Mutation_p.R202H|POLI_uc002lfl.1_Missense_Mutation_p.R237H|POLI_uc010dpg.2_5'UTR	0,1,1	1		benign(0.057)	p.R305H	NM_007195	NP_009126		tolerated(0.16)	0,1,1	POLI_HUMAN	POLI	HGNC	Q9UNA4	POLI_HUMAN		Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)	J3QQZ8_HUMAN,J3KTN3_HUMAN,J3KSW2_HUMAN,J3KRS8_HUMAN,J3KRG0_HUMAN		6	982	+			UPI00004DDD95	305					SNV	POLI,missense_variant,p.Arg305His,ENST00000579534,NM_007195.2;POLI,missense_variant,p.Arg202His,ENST00000579434,;POLI,missense_variant,p.Arg179His,ENST00000217800,;POLI,missense_variant,p.Arg226His,ENST00000406285,;POLI,missense_variant,p.Arg17His,ENST00000579823,;POLI,downstream_gene_variant,,ENST00000583136,;POLI,downstream_gene_variant,,ENST00000577612,;POLI,downstream_gene_variant,,ENST00000580880,;POLI,upstream_gene_variant,,ENST00000582366,;POLI,downstream_gene_variant,,ENST00000580905,;POLI,missense_variant,p.Arg32His,ENST00000585023,;POLI,missense_variant,p.Arg34His,ENST00000581950,;POLI,downstream_gene_variant,,ENST00000577971,;POLI,upstream_gene_variant,,ENST00000577361,;POLI,upstream_gene_variant,,ENST00000583576,;	uc002lfj.3	c.914G>A	1057/6131	2	2			c.914G>A						18	SNP	c.(913-915)CGT>CAT	18	18			ovary(2)|kidney(1)	3	Broad	DNA polymerase iota	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage		51809324		0.393	ENSG00000101751	12005	g.chr18:51809324G>A	DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding							10.893329	KEEP	3	2	-1	6	7	3	2	-1	11.6309	6	7	0.266667	1	0	0	0	0	1	0	0	0	--	--		0	A			POLI_uc010xds.1_Missense_Mutation_p.R226H|POLI_uc002lfk.3_Missense_Mutation_p.R202H|POLI_uc002lfl.1_Missense_Mutation_p.R237H|POLI_uc010dpg.2_5'UTR	87	GBM-06-2564-TP	p.R305H	G	GTTGCTCAGCGTATCCAAAAG	NM_007195	NP_009126	51809324	Q9UNA4	POLI_HUMAN	0		Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)	6	982	+	A	A			Missense_Mutation	305						
POLI	11201	broad.mit.edu	GRCh37	18	51820790	51820790	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5856-01	TCGA-06-5856-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000579534.1:c.2176G>A	p.Ala726Thr	p.A726T	ENST00000579534	NM_007195.2	726	Gca/Aca	0			1			A	A/T	uc002lfj.3	protein_coding	YES	CCDS11954.2			2176/2223									ovary(2)|kidney(1)	3	c.(2176-2178)GCA>ACA		DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	hmmpanther:PTHR11076:SF10,hmmpanther:PTHR11076	DNA polymerase iota				ENSP00000462664		10-Oct									COSM988974,COSM988973	10-Oct	.		ENST00000579534	Transcript			DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	ENSG00000101751	g.chr18:51820790G>A	9182			MODERATE		2.25	medium	getma.org/?cm=msa&ty=f&p=POLI_HUMAN&rb=628&re=740&var=A726T	getma.org/pdb.php?prot=POLI_HUMAN&from=628&to=740&var=A726T	getma.org/?cm=var&var=hg19,18,51820790,G,A&fts=all	A726T	--	--	1																																		POLI_uc010xds.1_Missense_Mutation_p.A647T|POLI_uc002lfk.3_Missense_Mutation_p.A623T|POLI_uc010dpg.2_Missense_Mutation_p.A322T	1,1	1		benign(0.141)	p.A726T	NM_007195	NP_009126		tolerated(0.08)	1,1	POLI_HUMAN	POLI	HGNC	Q9UNA4	POLI_HUMAN		Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)	J3QQZ8_HUMAN,J3KTN3_HUMAN,J3KSW2_HUMAN,J3KRS8_HUMAN,J3KRG0_HUMAN		10	2244	+			UPI00004DDD95	726					SNV	POLI,missense_variant,p.Ala726Thr,ENST00000579534,NM_007195.2;POLI,missense_variant,p.Ala623Thr,ENST00000579434,;POLI,missense_variant,p.Ala600Thr,ENST00000217800,;POLI,missense_variant,p.Ala647Thr,ENST00000406285,;POLI,intron_variant,,ENST00000579823,;POLI,downstream_gene_variant,,ENST00000582366,;POLI,3_prime_UTR_variant,,ENST00000585023,;POLI,downstream_gene_variant,,ENST00000577727,;POLI,downstream_gene_variant,,ENST00000577361,;POLI,downstream_gene_variant,,ENST00000581950,;	uc002lfj.3	c.2176G>A	2319/6131	1	1			c.2176G>A						18	SNP	c.(2176-2178)GCA>ACA	64	64			ovary(2)|kidney(1)	3	Broad	DNA polymerase iota	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage		51820790		0.388	ENSG00000101751	12005	g.chr18:51820790G>A	DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding							83.855404	KEEP	4	27	-1	9	12	4	27	-1	84.172452	9	12	0.590909	1	0	0	0	0	1	0	0	0	--	--		0	A			POLI_uc010xds.1_Missense_Mutation_p.A647T|POLI_uc002lfk.3_Missense_Mutation_p.A623T|POLI_uc010dpg.2_Missense_Mutation_p.A322T	101	GBM-06-5856-TP	p.A726T	G	GGAACTGCTGGCAGAGTGGAA	NM_007195	NP_009126	51820790	Q9UNA4	POLI_HUMAN	0		Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)	10	2244	+	A	A			Missense_Mutation	726						
POLL	27343		GRCh37	10	103342623	103342623	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2510-01	TCGA-28-2510-01																				ENST00000370162.3:c.1091G>A	p.Arg364His	p.R364H	ENST00000370162	NM_001174084.1	364	cGc/cAc	0																																																																																																																																																																																																																																												
POLQ	10721	broad.mit.edu	GRCh37	3	121212455	121212455	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264233.5:c.2392C>A	p.Arg798=	p.R798=	ENST00000264233	NM_199420.3	798	Cgg/Agg	0			1			T	R	uc003eee.3	protein_coding	YES	CCDS33833.1			2392/7773									ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11	c.(2392-2394)CGG>AGG		DNA_polymerases_(catalytic_subunits)	hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF48,Gene3D:1.10.150.20,Pfam_domain:PF14520,Superfamily_domains:SSF158702	DNA polymerase theta				ENSP00000264233		15/30									COSM2149624	15/30	.		ENST00000264233	Transcript			DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	ENSG00000051341	g.chr3:121212455G>T	9186			LOW								--	--	1																																		POLQ_uc003eed.2_5'Flank	1	1			p.R798R	NM_199420	NP_955452			1	DPOLQ_HUMAN	POLQ	HGNC	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)			15	2521	-			UPI0000D61B5F	798					SNV	POLQ,synonymous_variant,p.=,ENST00000264233,NM_199420.3;RPL7AP11,upstream_gene_variant,,ENST00000486538,;	uc003eee.3	c.2392C>A	2521/8775	1	1			c.2392C>A						3	SNP	c.(2392-2394)CGG>AGG	4	4			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11	Broad	DNA polymerase theta	DNA_polymerases_(catalytic_subunits)		121212455		0.488	ENSG00000051341	12010	g.chr3:121212455G>T	DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	Pancreas(152;907 1925 26081 31236 36904)			Pancreas(152;907 1925 26081 31236 36904)			64.70679	KEEP	13	10	0.565217391	22	20	13	10	0.565217391	65.715802	22	20	0.365079	1	0	0	0	0	0	0	1	0	--	--		0	T			POLQ_uc003eed.2_5'Flank	18	GBM-06-0137-TP	p.R798R	G	AAGGATACCCGAACCAGGTCA	NM_199420	NP_955452	121212455	O75417	DPOLQ_HUMAN	0		GBM - Glioblastoma multiforme(114;0.0915)	15	2521	-	T	T			Silent	798						
POLQ	10721	broad.mit.edu	GRCh37	3	121230744	121230744	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-5417-01	TCGA-06-5417-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264233.5:c.1601C>G	p.Ala534Gly	p.A534G	ENST00000264233	NM_199420.3	534	gCt/gGt	0			1			C	A/G	uc003eee.3	protein_coding	YES	CCDS33833.1			1601/7773									ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11	c.(1600-1602)GCT>GGT		DNA_polymerases_(catalytic_subunits)	PROSITE_profiles:PS51194,hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF48	DNA polymerase theta				ENSP00000264233		30-Oct									COSM3408161	30-Oct	.		ENST00000264233	Transcript			DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	ENSG00000051341	g.chr3:121230744G>C	9186			MODERATE		3.37	medium	getma.org/?cm=msa&ty=f&p=DPOLQ_HUMAN&rb=321&re=554&var=A534G	NA	getma.org/?cm=var&var=hg19,3,121230744,G,C&fts=all	A534G	--	--	1																																			1	1		possibly_damaging(0.718)	p.A534G	NM_199420	NP_955452		deleterious(0)	1	DPOLQ_HUMAN	POLQ	HGNC	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)			10	1730	-			UPI0000D61B5F	534			Helicase C-terminal.		SNV	POLQ,missense_variant,p.Ala534Gly,ENST00000264233,NM_199420.3;	uc003eee.3	c.1601C>G	1730/8775	3	3			c.1601C>G						3	SNP	c.(1600-1602)GCT>GGT	15	15			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11	Broad	DNA polymerase theta	DNA_polymerases_(catalytic_subunits)		121230744		0.358	ENSG00000051341	12010	g.chr3:121230744G>C	DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	Pancreas(152;907 1925 26081 31236 36904)			Pancreas(152;907 1925 26081 31236 36904)			11.474775	KEEP	15	9	-1	128	111	15	9	-1	47.763454	128	111	0.086124	1	0	0	0	0	1	0	0	0	--	--		0	C				99	GBM-06-5417-TP	p.A534G	G	CTCCAGAATAGCTCGTATCAT	NM_199420	NP_955452	121230744	O75417	DPOLQ_HUMAN	0		GBM - Glioblastoma multiforme(114;0.0915)	10	1730	-	C	C			Missense_Mutation	534			Helicase C-terminal.			
POLQ	0	broad.mit.edu	GRCh37	3	121206922	121206922	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-14-0813-01	TCGA-14-0813-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264233.5:c.4856A>C	p.Lys1619Thr	p.K1619T	ENST00000264233	NM_199420.3	1619	aAa/aCa	0			1			G	K/T	uc003eee.3	protein_coding	YES	CCDS33833.1			4856/7773									ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11	c.(4855-4857)AAA>ACA		DNA_polymerases_(catalytic_subunits)		DNA polymerase theta				ENSP00000264233		16/30									COSM2154710	16/30	.		ENST00000264233	Transcript			DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	ENSG00000051341	g.chr3:121206922T>G	9186			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=DPOLQ_HUMAN&rb=1486&re=1685&var=K1619T	NA	getma.org/?cm=var&var=hg19,3,121206922,T,G&fts=all	K1619T	--	--	1																																		POLQ_uc003eed.2_Missense_Mutation_p.K791T	1	1		benign(0.017)	p.K1619T	NM_199420	NP_955452		tolerated(0.06)	1	DPOLQ_HUMAN	POLQ	HGNC	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)			16	4985	-			UPI0000D61B5F	1619					SNV	POLQ,missense_variant,p.Lys1619Thr,ENST00000264233,NM_199420.3;	uc003eee.3	c.4856A>C	4985/8775	3	3			c.4856A>C						3	SNP	c.(4855-4857)AAA>ACA	49	49			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11	Broad	DNA polymerase theta	DNA_polymerases_(catalytic_subunits)		121206922		0.408	ENSG00000051341	12010	g.chr3:121206922T>G	DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	Pancreas(152;907 1925 26081 31236 36904)			Pancreas(152;907 1925 26081 31236 36904)			641.82066	KEEP	125	83	-1	177	149	125	83	-1	646.860273	177	149	0.389362	1	0	0	0	0	1	0	0	0	--	--		0	G			POLQ_uc003eed.2_Missense_Mutation_p.K791T	138	GBM-14-0813-TP	p.K1619T	T	CCCAGTTAATTTTGATTTTTC	NM_199420	NP_955452	121206922	O75417	DPOLQ_HUMAN	0		GBM - Glioblastoma multiforme(114;0.0915)	16	4985	-	G	G			Missense_Mutation	1619						
POLQ	0	broad.mit.edu	GRCh37	3	121208947	121208947	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-32-5222-01	TCGA-32-5222-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264233.5:c.2831T>G	p.Phe944Cys	p.F944C	ENST00000264233	NM_199420.3	944	tTt/tGt	0			1			C	F/C	uc003eee.3	protein_coding	YES	CCDS33833.1			2831/7773									ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11	c.(2830-2832)TTT>TGT		DNA_polymerases_(catalytic_subunits)		DNA polymerase theta				ENSP00000264233		16/30									COSM3408160	16/30	.		ENST00000264233	Transcript			DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	ENSG00000051341	g.chr3:121208947A>C	9186			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=DPOLQ_HUMAN&rb=886&re=1085&var=F944C	NA	getma.org/?cm=var&var=hg19,3,121208947,A,C&fts=all	F944C	--	--	1																																		POLQ_uc003eed.2_Missense_Mutation_p.F116C	1	1		possibly_damaging(0.524)	p.F944C	NM_199420	NP_955452		tolerated(0.09)	1	DPOLQ_HUMAN	POLQ	HGNC	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)			16	2960	-			UPI0000D61B5F	944					SNV	POLQ,missense_variant,p.Phe944Cys,ENST00000264233,NM_199420.3;RPL7AP11,upstream_gene_variant,,ENST00000486538,;	uc003eee.3	c.2831T>G	2960/8775	3	3			c.2831T>G						3	SNP	c.(2830-2832)TTT>TGT	51	51			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11	Broad	DNA polymerase theta	DNA_polymerases_(catalytic_subunits)		121208947		0.289	ENSG00000051341	12010	g.chr3:121208947A>C	DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	Pancreas(152;907 1925 26081 31236 36904)			Pancreas(152;907 1925 26081 31236 36904)			-21.780946	KEEP	2	1	-1	60	56	2	1	-1	6.798439	60	56	0.026087	1	0	0	0	0	1	0	0	0	--	--		0	C			POLQ_uc003eed.2_Missense_Mutation_p.F116C	249	GBM-32-5222-TP	p.F944C	A	AGAATCACTAAATATTGTGTT	NM_199420	NP_955452	121208947	O75417	DPOLQ_HUMAN	0		GBM - Glioblastoma multiforme(114;0.0915)	16	2960	-	C	C			Missense_Mutation	944						
POLR1A	0	broad.mit.edu	GRCh37	2	86272753	86272753	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5214-01	TCGA-28-5214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263857.6:c.2873G>A	p.Gly958Asp	p.G958D	ENST00000263857		958	gGc/gAc	0			1			T	G/D	uc002sqs.2	protein_coding	YES	CCDS42706.1			2873/5163									ovary(2)|skin(1)	3	c.(2872-2874)GGC>GAC			hmmpanther:PTHR19376,hmmpanther:PTHR19376:SF11,Pfam_domain:PF04998,Superfamily_domains:SSF64484	DNA-directed RNA polymerase I A				ENSP00000263857		20/34									COSM3408019	20/34	.		ENST00000263857	Transcript	1		termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	ENSG00000068654	g.chr2:86272753C>T	17264			MODERATE		4	high	getma.org/?cm=msa&ty=f&p=RPA1_HUMAN&rb=958&re=1672&var=G958D	getma.org/pdb.php?prot=RPA1_HUMAN&from=958&to=1672&var=G958D	getma.org/?cm=var&var=hg19,2,86272753,C,T&fts=all	G958D	--	--	1																																		POLR1A_uc010ytb.1_Missense_Mutation_p.G324D|POLR1A_uc002sqt.1_5'Flank	1	1		probably_damaging(0.999)	p.G958D	NM_015425	NP_056240		deleterious(0)	1	RPA1_HUMAN	POLR1A	HGNC	O95602	RPA1_HUMAN			Q96AG9_HUMAN,Q53T12_HUMAN,B7Z8X7_HUMAN		20	3252	-			UPI0000D7DB86	958					SNV	POLR1A,missense_variant,p.Gly958Asp,ENST00000263857,;POLR1A,missense_variant,p.Gly958Asp,ENST00000409681,NM_015425.3;	uc002sqs.2	c.2873G>A	3252/12749	1	1			c.2873G>A						2	SNP	c.(2872-2874)GGC>GAC	7	7			ovary(2)|skin(1)	3	Broad	DNA-directed RNA polymerase I A			86272753		0.512	ENSG00000068654	12011	g.chr2:86272753C>T	termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding							-41.182686	KEEP	3	2	-1	90	113	3	2	-1	7.129094	90	113	0.025773	1	0	0	0	0	1	0	0	0	--	--		0	T			POLR1A_uc010ytb.1_Missense_Mutation_p.G324D|POLR1A_uc002sqt.1_5'Flank	221	GBM-28-5214-TP	p.G958D	C	AGGTTTGATGCCGGTGAGGAA	NM_015425	NP_056240	86272753	O95602	RPA1_HUMAN	0			20	3252	-	T	T			Missense_Mutation	958						
POLR1A	0	broad.mit.edu	GRCh37	2	86272410	86272410	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-5219-01	TCGA-28-5219-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263857.6:c.2960A>G	p.Tyr987Cys	p.Y987C	ENST00000263857		987	tAt/tGt	0			1			C	Y/C	uc002sqs.2	protein_coding	YES	CCDS42706.1			2960/5163									ovary(2)|skin(1)	3	c.(2959-2961)TAT>TGT			hmmpanther:PTHR19376,hmmpanther:PTHR19376:SF11,Pfam_domain:PF04998,Superfamily_domains:SSF64484	DNA-directed RNA polymerase I A				ENSP00000263857		21/34									COSM3408018	21/34	.		ENST00000263857	Transcript	1		termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	ENSG00000068654	g.chr2:86272410T>C	17264			MODERATE		4.055	high	getma.org/?cm=msa&ty=f&p=RPA1_HUMAN&rb=958&re=1672&var=Y987C	getma.org/pdb.php?prot=RPA1_HUMAN&from=958&to=1672&var=Y987C	getma.org/?cm=var&var=hg19,2,86272410,T,C&fts=all	Y987C	--	--	1																																		POLR1A_uc010ytb.1_Missense_Mutation_p.Y353C|POLR1A_uc002sqt.1_5'Flank	1	1		probably_damaging(1)	p.Y987C	NM_015425	NP_056240		deleterious(0)	1	RPA1_HUMAN	POLR1A	HGNC	O95602	RPA1_HUMAN			Q96AG9_HUMAN,Q53T12_HUMAN,B7Z8X7_HUMAN		21	3339	-			UPI0000D7DB86	987					SNV	POLR1A,missense_variant,p.Tyr987Cys,ENST00000263857,;POLR1A,missense_variant,p.Tyr987Cys,ENST00000409681,NM_015425.3;POLR1A,upstream_gene_variant,,ENST00000462078,;	uc002sqs.2	c.2960A>G	3339/12749	4	4			c.2960A>G						2	SNP	c.(2959-2961)TAT>TGT	40	40			ovary(2)|skin(1)	3	Broad	DNA-directed RNA polymerase I A			86272410		0.522	ENSG00000068654	12011	g.chr2:86272410T>C	termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding							-1.36951	KEEP	8	2	-1	57	58	8	2	-1	13.213595	57	58	0.066667	1	0	0	0	0	1	0	0	0	--	--		0	C			POLR1A_uc010ytb.1_Missense_Mutation_p.Y353C|POLR1A_uc002sqt.1_5'Flank	225	GBM-28-5219-TP	p.Y987C	T	CCTTTGGAGATAGCCTGAGCG	NM_015425	NP_056240	86272410	O95602	RPA1_HUMAN	0			21	3339	-	C	C			Missense_Mutation	987						
POLR1B	0	broad.mit.edu	GRCh37	2	113315616	113315616	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-5213-01	TCGA-28-5213-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263331.5:c.1288T>C	p.Phe430Leu	p.F430L	ENST00000263331	NM_019014.4	430	Ttt/Ctt	0			1			C	F/L	uc002thw.2	protein_coding	YES	CCDS2097.1			1288/3408									ovary(1)	1	c.(1288-1290)TTT>CTT			hmmpanther:PTHR20856:SF5,hmmpanther:PTHR20856,Gene3D:2a6hC02,Superfamily_domains:SSF64484	RNA polymerase I polypeptide B isoform 1				ENSP00000263331		15-Aug									COSM3406789,COSM3406790	15-Aug	.		ENST00000263331	Transcript			termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	ENSG00000125630	g.chr2:113315616T>C	20454			MODERATE		0.415	neutral	getma.org/?cm=msa&ty=f&p=RPA2_HUMAN&rb=37&re=437&var=F430L	getma.org/pdb.php?prot=RPA2_HUMAN&from=37&to=437&var=F430L	getma.org/?cm=var&var=hg19,2,113315616,T,C&fts=all	F430L	--	--	1																																		POLR1B_uc010fkn.2_Missense_Mutation_p.F374L|POLR1B_uc002thx.2_Missense_Mutation_p.F291L|POLR1B_uc010fko.2_Intron|POLR1B_uc010fkp.2_Intron|POLR1B_uc010yxn.1_Missense_Mutation_p.F468L|POLR1B_uc002thy.2_Missense_Mutation_p.F291L|POLR1B_uc010yxo.1_Missense_Mutation_p.F207L	1,1	1		benign(0.015)	p.F430L	NM_019014	NP_061887		tolerated(1)	1,1	RPA2_HUMAN	POLR1B	HGNC	Q9H9Y6	RPA2_HUMAN			Q9BSR4_HUMAN,Q6DKI9_HUMAN,F5H643_HUMAN,C9JS83_HUMAN,C9JJG2_HUMAN,B7Z1W6_HUMAN		8	1868	+			UPI00001B6B03	430					SNV	POLR1B,missense_variant,p.Phe430Leu,ENST00000263331,NM_019014.4;POLR1B,missense_variant,p.Phe468Leu,ENST00000541869,NM_001282772.1;POLR1B,missense_variant,p.Phe374Leu,ENST00000417433,NM_001137604.1;POLR1B,missense_variant,p.Phe219Leu,ENST00000537335,NM_001282776.1;POLR1B,intron_variant,,ENST00000409894,NM_001282774.1;POLR1B,non_coding_transcript_exon_variant,,ENST00000498054,;POLR1B,3_prime_UTR_variant,,ENST00000333990,NM_001282777.1;POLR1B,intron_variant,,ENST00000448770,;	uc002thw.2	c.1288T>C	1868/4558	3	3			c.1288T>C						2	SNP	c.(1288-1290)TTT>CTT	62	62			ovary(1)	1	Broad	RNA polymerase I polypeptide B isoform 1			113315616		0.328	ENSG00000125630	12012	g.chr2:113315616T>C	termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	Ovarian(16;256 576 9537 23969 41147)			Ovarian(16;256 576 9537 23969 41147)			79.794427	KEEP	13	14	-1	42	58	13	14	-1	86.965829	42	58	0.234234	1	0	0	0	0	1	0	0	0	--	--		0	C			POLR1B_uc010fkn.2_Missense_Mutation_p.F374L|POLR1B_uc002thx.2_Missense_Mutation_p.F291L|POLR1B_uc010fko.2_Intron|POLR1B_uc010fkp.2_Intron|POLR1B_uc010yxn.1_Missense_Mutation_p.F468L|POLR1B_uc002thy.2_Missense_Mutation_p.F291L|POLR1B_uc010yxo.1_Missense_Mutation_p.F207L	220	GBM-28-5213-TP	p.F430L	T	TACAAAACCATTTGAATACCT	NM_019014	NP_061887	113315616	Q9H9Y6	RPA2_HUMAN	0			8	1868	+	C	C			Missense_Mutation	430						
POLR2A	5430	broad.mit.edu	GRCh37	17	7404279	7404279	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2563-01	TCGA-06-2563-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322644.6:c.1902G>A	p.Glu634=	p.E634=	ENST00000322644	NM_000937.4	634	gaG/gaA	0			1			A	E	uc002ghf.3	protein_coding	YES	CCDS32548.1			1902/5913									pancreas(1)	1	c.(1900-1902)GAG>GAA			Pfam_domain:PF04983,hmmpanther:PTHR19376,hmmpanther:PTHR19376:SF33,Superfamily_domains:SSF64484	DNA-directed RNA polymerase II A				ENSP00000314949		29-Dec									COSM2152846	29-Dec	.		ENST00000322644	Transcript			mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	ENSG00000181222	g.chr17:7404279G>A	9187			LOW								--	--	1																																			1	1			p.E634E	NM_000937	NP_000928			1	RPB1_HUMAN	POLR2A	HGNC	P24928	RPB1_HUMAN					12	2136	+		Prostate(122;0.173)	UPI0000140EB9	634					SNV	POLR2A,synonymous_variant,p.=,ENST00000322644,NM_000937.4;POLR2A,downstream_gene_variant,,ENST00000572844,;POLR2A,downstream_gene_variant,,ENST00000575547,;POLR2A,upstream_gene_variant,,ENST00000576718,;POLR2A,downstream_gene_variant,,ENST00000576952,;POLR2A,upstream_gene_variant,,ENST00000574158,;POLR2A,upstream_gene_variant,,ENST00000576114,;	uc002ghf.3	c.1902G>A	2301/6749	1	1			c.1902G>A						17	SNP	c.(1900-1902)GAG>GAA	53	53			pancreas(1)	1	Broad	DNA-directed RNA polymerase II A			7404279		0.393	ENSG00000181222	12016	g.chr17:7404279G>A	mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding							84.387862	KEEP	11	17	-1	31	19	11	17	-1	85.749696	31	19	0.358974	1	0	0	0	0	0	0	1	0	--	--		0	A				86	GBM-06-2563-TP	p.E634E	G	agaatggggagctgatcatgg	NM_000937	NP_000928	7404279	P24928	RPB1_HUMAN	0			12	2136	+	A	A		Prostate(122;0.173)	Silent	634						
POLR2A	0	broad.mit.edu	GRCh37	17	7417217	7417217	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-26-5139-01	TCGA-26-5139-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322644.6:c.5634delT	p.Thr1880ProfsTer101	p.T1880Pfs*101	ENST00000322644	NM_000937.4	1878	agT/ag	0			1			-	S/X	uc002ghf.3	protein_coding	YES	CCDS32548.1			5634/5913									pancreas(1)	1	c.(5632-5634)AGTfs			Pfam_domain:PF05001,Pfam_domain:PF05001,PROSITE_patterns:PS00115,Low_complexity_(Seg):seg	DNA-directed RNA polymerase II A				ENSP00000314949		29/29									COSM2157182	29/29	.		ENST00000322644	Transcript			mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	ENSG00000181222	g.chr17:7417217delT	9187			HIGH								--	--	1																																			1	1			p.S1878fs	NM_000937	NP_000928			1	RPB1_HUMAN	POLR2A	HGNC	P24928	RPB1_HUMAN					29	5868	+		Prostate(122;0.173)	UPI0000140EB9	1878			41.|52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].		deletion	POLR2A,frameshift_variant,p.Thr1880ProfsTer101,ENST00000322644,NM_000937.4;POLR2A,downstream_gene_variant,,ENST00000573603,;POLR2A,downstream_gene_variant,,ENST00000576553,;	uc002ghf.3	c.5634delT	6033/6749	5	5			c.5634delT						17	DEL	c.(5632-5634)AGTfs	33	33			pancreas(1)	1	Broad	DNA-directed RNA polymerase II A			7417217		0.269	ENSG00000181222	12016	g.chr17:7417217delT	mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding																				0.41	1	1	0	1	0	0	0	0	0	--	--		0	-				186	GBM-26-5139-TP	p.S1878fs	T	CGCCTACCAGTcccacctatt	NM_000937	NP_000928	7417217	P24928	RPB1_HUMAN	0			29	5868	+	-	-		Prostate(122;0.173)	Frame_Shift_Del	1878			41.|52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].			
POLR2A	0	broad.mit.edu	GRCh37	17	7399844	7399844	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2523-01	TCGA-27-2523-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322644.6:c.449G>A	p.Gly150Asp	p.G150D	ENST00000322644	NM_000937.4	150	gGc/gAc	0			1			A	G/D	uc002ghf.3	protein_coding	YES	CCDS32548.1			449/5913									pancreas(1)	1	c.(448-450)GGC>GAC			Pfam_domain:PF04997,hmmpanther:PTHR19376,hmmpanther:PTHR19376:SF33,Superfamily_domains:SSF64484	DNA-directed RNA polymerase II A				ENSP00000314949		29-Apr									COSM3403225	29-Apr	.		ENST00000322644	Transcript			mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	ENSG00000181222	g.chr17:7399844G>A	9187			MODERATE		1.855	low	getma.org/?cm=msa&ty=f&p=RPB1_HUMAN&rb=15&re=354&var=G150D	getma.org/pdb.php?prot=RPB1_HUMAN&from=15&to=354&var=G150D	getma.org/?cm=var&var=hg19,17,7399844,G,A&fts=all	G150D	--	--	1																																		POLR2A_uc002ghe.2_Missense_Mutation_p.G150D	1	1		possibly_damaging(0.9)	p.G150D	NM_000937	NP_000928			1	RPB1_HUMAN	POLR2A	HGNC	P24928	RPB1_HUMAN					4	683	+		Prostate(122;0.173)	UPI0000140EB9	150					SNV	POLR2A,missense_variant,p.Gly150Asp,ENST00000322644,NM_000937.4;POLR2A,missense_variant,p.Gly150Asp,ENST00000572844,;POLR2A,upstream_gene_variant,,ENST00000575547,;POLR2A,upstream_gene_variant,,ENST00000576952,;	uc002ghf.3	c.449G>A	848/6749	2	2			c.449G>A						17	SNP	c.(448-450)GGC>GAC	36	36			pancreas(1)	1	Broad	DNA-directed RNA polymerase II A			7399844		0.537	ENSG00000181222	12016	g.chr17:7399844G>A	mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding							-45.185926	KEEP	1	3	-1	116	105	1	3	-1	6.41186	116	105	0.02	1	0	0	0	0	1	0	0	0	--	--		0	A			POLR2A_uc002ghe.2_Missense_Mutation_p.G150D	201	GBM-27-2523-TP	p.G150D	G	CTTTGCAAGGGCAAAAACATA	NM_000937	NP_000928	7399844	P24928	RPB1_HUMAN	0			4	683	+	A	A		Prostate(122;0.173)	Missense_Mutation	150						
POLR2B	5431	broad.mit.edu	GRCh37	4	57890238	57890238	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5417-01	TCGA-06-5417-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381227.1:c.2924G>A	p.Arg975His	p.R975H	ENST00000381227		975	cGt/cAt	0			1			A	R/H	uc003hcl.1	protein_coding		CCDS3511.1			2924/3525									ovary(2)	2	c.(2923-2925)CGT>CAT			Superfamily_domains:SSF64484,Pfam_domain:PF00562,Gene3D:2a6hC01,hmmpanther:PTHR20856,hmmpanther:PTHR20856:SF7	DNA directed RNA polymerase II polypeptide B				ENSP00000312735		21/25									COSM2153305	21/25	.		ENST00000314595	Transcript			mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	ENSG00000047315	g.chr4:57890238G>A	9188			MODERATE		4.795	high	getma.org/?cm=msa&ty=f&p=RPB2_HUMAN&rb=705&re=1080&var=R975H	getma.org/pdb.php?prot=RPB2_HUMAN&from=705&to=1080&var=R975H	getma.org/?cm=var&var=hg19,4,57890238,G,A&fts=all	R975H	--	--	1																																		POLR2B_uc011cae.1_Missense_Mutation_p.R968H|POLR2B_uc011caf.1_Missense_Mutation_p.R900H|POLR2B_uc003hcm.1_Missense_Mutation_p.R468H	1			probably_damaging(1)	p.R975H	NM_000938	NP_000929		deleterious(0)	1	RPB2_HUMAN	POLR2B	HGNC	P30876	RPB2_HUMAN			C9JMN3_HUMAN,C9J2Y9_HUMAN,B2WTN6_HUMAN		21	2967	+	Glioma(25;0.08)|all_neural(26;0.181)		UPI00001345D1	975					SNV	POLR2B,missense_variant,p.Arg975His,ENST00000381227,;POLR2B,missense_variant,p.Arg968His,ENST00000441246,;POLR2B,missense_variant,p.Arg975His,ENST00000314595,NM_000938.1;POLR2B,missense_variant,p.Arg900His,ENST00000431623,;POLR2B,non_coding_transcript_exon_variant,,ENST00000478188,;POLR2B,non_coding_transcript_exon_variant,,ENST00000484821,;POLR2B,downstream_gene_variant,,ENST00000464918,;	uc003hcl.1	c.2924G>A	2967/3748	2	2			c.2924G>A						4	SNP	c.(2923-2925)CGT>CAT	43	43			ovary(2)	2	Broad	DNA directed RNA polymerase II polypeptide B			57890238		0.378	ENSG00000047315	12017	g.chr4:57890238G>A	mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding							536.859784	KEEP	92	109	-1	60	65	92	109	-1	540.050635	60	65	0.615385	1	0	0	0	0	1	0	0	0	--	--		0	A			POLR2B_uc011cae.1_Missense_Mutation_p.R968H|POLR2B_uc011caf.1_Missense_Mutation_p.R900H|POLR2B_uc003hcm.1_Missense_Mutation_p.R468H	99	GBM-06-5417-TP	p.R975H	G	ATCCCCTCTCGTATGACTATT	NM_000938	NP_000929	57890238	P30876	RPB2_HUMAN	0			21	2967	+	A	A	Glioma(25;0.08)|all_neural(26;0.181)		Missense_Mutation	975						
POLR2M	81488	broad.mit.edu	GRCh37	15	58006757	58006757	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0185-01	TCGA-06-0185-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299638.3:c.987G>A	p.Ala329=	p.A329=	ENST00000299638	NM_015532.3	329	gcG/gcA	0			1			A	A	uc002aeo.2	protein_coding	YES	CCDS32247.1			1533/1653									ovary(1)	1	c.(1327-1329)CGC>CAC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23171,hmmpanther:PTHR23171:SF2,Prints_domain:PR02085	GRINL1A combined protein isoform 2				ENSP00000369943		14/14	3.29E-05					6.00E-05			rs747730255,COSM470871,COSM470872	14/14	.		ENST00000380569	Transcript			intracellular signal transduction	extrinsic to internal side of plasma membrane|I band		ENSG00000137878	g.chr15:58006757G>A	26424			LOW								--	--	1																																		GCOM1_uc002aem.2_Silent_p.A511A|GCOM1_uc002aeq.2_RNA|GCOM1_uc002aen.2_RNA|GCOM1_uc010bfy.2_RNA|GCOM1_uc002aep.2_RNA|GCOM1_uc010bfx.2_RNA|GRINL1A_uc002aes.2_Silent_p.A98A|GRINL1A_uc010ugu.1_RNA|GRINL1A_uc002aet.3_Silent_p.A329A|GRINL1A_uc002aeu.3_Silent_p.A172A	0,1,1				p.R443H	NM_001018091	NP_001018101			0,1,1		GCOM1	HGNC	P0CAP1	GCOM1_HUMAN					13	1447	+			UPI0000375B72	51					SNV	GCOM1,missense_variant,p.Arg443His,ENST00000380568,NM_001018091.4;POLR2M,synonymous_variant,p.=,ENST00000299638,NM_015532.3,NM_001285900.1;POLR2M,synonymous_variant,p.=,ENST00000380557,NM_001018102.1;GCOM1,synonymous_variant,p.=,ENST00000587652,;GCOM1,synonymous_variant,p.=,ENST00000380569,NM_001018090.4;POLR2M,intron_variant,,ENST00000380563,;GCOM1,non_coding_transcript_exon_variant,,ENST00000484300,;GCOM1,3_prime_UTR_variant,,ENST00000460962,;GCOM1,3_prime_UTR_variant,,ENST00000496627,;GCOM1,3_prime_UTR_variant,,ENST00000463717,;POLR2M,3_prime_UTR_variant,,ENST00000494490,;GCOM1,3_prime_UTR_variant,,ENST00000482814,;GCOM1,3_prime_UTR_variant,,ENST00000477282,;POLR2M,intron_variant,,ENST00000482852,;	uc002aeo.2	c.1328G>A	1660/1846	2	2			c.1328G>A						15	SNP	c.(1327-1329)CGC>CAC	18	18			ovary(1)	1	Broad	GRINL1A combined protein isoform 2			58006757		0.398	ENSG00000137878	6191	g.chr15:58006757G>A	intracellular signal transduction	extrinsic to internal side of plasma membrane|I band								-32.811695	KEEP	2	3	-1	86	79	2	3	-1	6.334924	86	79	0.025478	1	0	0	0	0	1	0	0	0	--	--		0	A			GCOM1_uc002aem.2_Silent_p.A511A|GCOM1_uc002aeq.2_RNA|GCOM1_uc002aen.2_RNA|GCOM1_uc010bfy.2_RNA|GCOM1_uc002aep.2_RNA|GCOM1_uc010bfx.2_RNA|GRINL1A_uc002aes.2_Silent_p.A98A|GRINL1A_uc010ugu.1_RNA|GRINL1A_uc002aet.3_Silent_p.A329A|GRINL1A_uc002aeu.3_Silent_p.A172A	40	GBM-06-0185-TP	p.R443H	G	AGCTCGCAGCGCAAAAATTAG	NM_001018091	NP_001018101	58006757	P0CAP1	GCOM1_HUMAN	0			13	1447	+	A	A			Missense_Mutation	51						
POLR3B	55703	broad.mit.edu	GRCh37	12	106824234	106824234	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01	TCGA-06-0213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000228347.4:c.1447G>A	p.Asp483Asn	p.D483N	ENST00000228347	NM_018082.5	483	Gac/Aac	0			1			A	D/N	uc001tlp.2	protein_coding	YES	CCDS9105.1			1447/3402									ovary(1)|central_nervous_system(1)	2	c.(1447-1449)GAC>AAC			Gene3D:2a6hC02,Pfam_domain:PF04565,hmmpanther:PTHR20856,hmmpanther:PTHR20856:SF8,Superfamily_domains:SSF64484	DNA-directed RNA polymerase III B isoform 1				ENSP00000228347		14/28									COSM2150815	14/28	.		ENST00000228347	Transcript	1		innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	ENSG00000013503	g.chr12:106824234G>A	30348			MODERATE		3.13	medium	getma.org/?cm=msa&ty=f&p=RPC2_HUMAN&rb=438&re=503&var=D483N	getma.org/pdb.php?prot=RPC2_HUMAN&from=438&to=503&var=D483N	getma.org/?cm=var&var=hg19,12,106824234,G,A&fts=all	D483N	--	--	1																																		POLR3B_uc001tlq.2_Missense_Mutation_p.D425N	1	1		probably_damaging(0.999)	p.D483N	NM_018082	NP_060552		deleterious(0)	1	RPC2_HUMAN	POLR3B	HGNC	Q9NW08	RPC2_HUMAN			F8VRU2_HUMAN,B3KRQ8_HUMAN		14	1669	+			UPI000000DB67	483					SNV	POLR3B,missense_variant,p.Asp483Asn,ENST00000228347,NM_018082.5;POLR3B,missense_variant,p.Asp425Asn,ENST00000539066,NM_001160708.1;POLR3B,downstream_gene_variant,,ENST00000549569,;POLR3B,downstream_gene_variant,,ENST00000549195,;	uc001tlp.2	c.1447G>A	1669/4273	2	2			c.1447G>A						12	SNP	c.(1447-1449)GAC>AAC	29	29			ovary(1)|central_nervous_system(1)	2	Broad	DNA-directed RNA polymerase III B isoform 1			106824234		0.522	ENSG00000013503	12031	g.chr12:106824234G>A	innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding							118.403428	KEEP	26	20	-1	64	59	26	20	-1	124.820306	64	59	0.286624	1	0	0	0	0	1	0	0	0	--	--		0	A			POLR3B_uc001tlq.2_Missense_Mutation_p.D425N	49	GBM-06-0213-TP	p.D483N	G	GTGTCCTTCGGACACTCCTGA	NM_018082	NP_060552	106824234	Q9NW08	RPC2_HUMAN	0			14	1669	+	A	A			Missense_Mutation	483						
POLR3C	10623	broad.mit.edu	GRCh37	1	145594170	145594170	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-06-0174-01	TCGA-06-0174-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334163.3:c.1392T>A	p.Ser464=	p.S464=	ENST00000334163	NM_006468.6	464	tcT/tcA	0			1			T	S	uc001eoh.2	protein_coding	YES	CCDS921.1			1392/1605									ovary(1)	1	c.(1390-1392)TCT>TCA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12949	polymerase (RNA) III (DNA directed) polypeptide				ENSP00000334564		14/15									COSM3399672	14/15	.		ENST00000334163	Transcript			innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	ENSG00000186141	g.chr1:145594170A>T	30076			LOW								--	--	1																																		NBPF10_uc001emp.3_Intron|POLR3C_uc001eog.2_Silent_p.S477S|POLR3C_uc001eoi.2_RNA|POLR3C_uc009wix.2_Intron	1	1			p.S464S	NM_006468	NP_006459			1	RPC3_HUMAN	POLR3C	HGNC	Q9BUI4	RPC3_HUMAN	Epithelial(2;7.55e-13)				14	1553	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		UPI0000071E0F	464					SNV	POLR3C,synonymous_variant,p.=,ENST00000334163,NM_006468.6;POLR3C,intron_variant,,ENST00000369294,;NUDT17,upstream_gene_variant,,ENST00000334513,NM_001012758.2;POLR3C,downstream_gene_variant,,ENST00000471254,;POLR3C,downstream_gene_variant,,ENST00000489436,;POLR3C,downstream_gene_variant,,ENST00000479819,;NUDT17,upstream_gene_variant,,ENST00000477878,;NUDT17,upstream_gene_variant,,ENST00000460879,;	uc001eoh.2	c.1392T>A	1553/1851	2	2			c.1392T>A						1	SNP	c.(1390-1392)TCT>TCA	32	32			ovary(1)	1	Broad	polymerase (RNA) III (DNA directed) polypeptide			145594170		0.478	ENSG00000186141	12032	g.chr1:145594170A>T	innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity							228.025309	KEEP	48	34	-1	52	47	48	34	-1	228.45092	52	47	0.445783	1	0	0	0	0	0	0	1	0	--	--		0	T			NBPF10_uc001emp.3_Intron|POLR3C_uc001eog.2_Silent_p.S477S|POLR3C_uc001eoi.2_RNA|POLR3C_uc009wix.2_Intron	37	GBM-06-0174-TP	p.S464S	A	CTACCCTCTGAGATTTTTCTA	NM_006468	NP_006459	145594170	Q9BUI4	RPC3_HUMAN	0	Epithelial(2;7.55e-13)		14	1553	-	T	T	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Silent	464						
POLR3C	10623	broad.mit.edu	GRCh37	1	145608488	145608488	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334163.3:c.319G>A	p.Val107Ile	p.V107I	ENST00000334163	NM_006468.6	107	Gtt/Att	0			1			T	V/I	uc001eoh.2	protein_coding	YES	CCDS921.1			319/1605									ovary(1)	1	c.(319-321)GTT>ATT			hmmpanther:PTHR12949	polymerase (RNA) III (DNA directed) polypeptide				ENSP00000334564		15-Mar									COSM2152203	15-Mar	.		ENST00000334163	Transcript			innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	ENSG00000186141	g.chr1:145608488C>T	30076			MODERATE		1.78	low	getma.org/?cm=msa&ty=f&p=RPC3_HUMAN&rb=69&re=145&var=V107I	getma.org/pdb.php?prot=RPC3_HUMAN&from=69&to=145&var=V107I	getma.org/?cm=var&var=hg19,1,145608488,C,T&fts=all	V107I	--	--	1																																		NBPF10_uc001emp.3_Intron|RNF115_uc001eoj.2_5'Flank|RNF115_uc001eok.2_5'Flank|RNF115_uc009wiy.2_5'Flank|POLR3C_uc001eog.2_Missense_Mutation_p.V120I|POLR3C_uc001eoi.2_RNA|POLR3C_uc009wix.2_Missense_Mutation_p.V107I	1	1		benign(0.014)	p.V107I	NM_006468	NP_006459		tolerated(0.49)	1	RPC3_HUMAN	POLR3C	HGNC	Q9BUI4	RPC3_HUMAN	Epithelial(2;7.55e-13)				3	480	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		UPI0000071E0F	107					SNV	POLR3C,missense_variant,p.Val107Ile,ENST00000334163,NM_006468.6;POLR3C,missense_variant,p.Val107Ile,ENST00000369294,;RNF115,upstream_gene_variant,,ENST00000369291,NM_014455.3;POLR3C,non_coding_transcript_exon_variant,,ENST00000471254,;POLR3C,non_coding_transcript_exon_variant,,ENST00000466003,;RNF115,upstream_gene_variant,,ENST00000539368,;RNF115,upstream_gene_variant,,ENST00000542738,;	uc001eoh.2	c.319G>A	480/1851	1	1			c.319G>A						1	SNP	c.(319-321)GTT>ATT	13	13			ovary(1)	1	Broad	polymerase (RNA) III (DNA directed) polypeptide			145608488		0.493	ENSG00000186141	12032	g.chr1:145608488C>T	innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity							168.508198	KEEP	40	23	-1	66	57	40	23	-1	172.644859	66	57	0.338889	1	0	0	0	0	1	0	0	0	--	--		0	T			NBPF10_uc001emp.3_Intron|RNF115_uc001eoj.2_5'Flank|RNF115_uc001eok.2_5'Flank|RNF115_uc009wiy.2_5'Flank|POLR3C_uc001eog.2_Missense_Mutation_p.V120I|POLR3C_uc001eoi.2_RNA|POLR3C_uc009wix.2_Missense_Mutation_p.V107I	73	GBM-06-0877-TP	p.V107I	C	AGCTCCTCAACAATCAGCTCT	NM_006468	NP_006459	145608488	Q9BUI4	RPC3_HUMAN	0	Epithelial(2;7.55e-13)		3	480	-	T	T	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Missense_Mutation	107						
POLR3D	0	broad.mit.edu	GRCh37	8	22106020	22106020	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-2629-01	TCGA-19-2629-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306433.4:c.513C>T	p.Asn171=	p.N171=	ENST00000306433	NM_001722.2	171	aaC/aaT	0			1			T	N	uc003xbl.2	protein_coding		CCDS34858.1			513/1197										0	c.(511-513)AAC>AAT			hmmpanther:PTHR13408,hmmpanther:PTHR13408:SF2	polymerase (RNA) III (DNA directed) polypeptide				ENSP00000303088		9-Jun									COSM2156320	9-Jun	.		ENST00000306433	Transcript			innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	ENSG00000168495	g.chr8:22106020C>T	1080			LOW								--	--	1																																		POLR3D_uc003xbm.2_Silent_p.N171N|POLR3D_uc011kze.1_RNA	1				p.N171N	NM_001722	NP_001713			1	RPC4_HUMAN	POLR3D	HGNC	P05423	RPC4_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	E5RHT4_HUMAN,D3DSR2_HUMAN		6	596	+			UPI000006CE69	171					SNV	POLR3D,synonymous_variant,p.=,ENST00000397802,;POLR3D,synonymous_variant,p.=,ENST00000306433,NM_001722.2;POLR3D,synonymous_variant,p.=,ENST00000519237,;MIR320A,upstream_gene_variant,,ENST00000385302,;POLR3D,3_prime_UTR_variant,,ENST00000518039,;POLR3D,non_coding_transcript_exon_variant,,ENST00000517789,;	uc003xbl.2	c.513C>T	598/1931	1	1			c.513C>T						8	SNP	c.(511-513)AAC>AAT	6	6				0	Broad	polymerase (RNA) III (DNA directed) polypeptide			22106020		0.527	ENSG00000168495	12033	g.chr8:22106020C>T	innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity							69.637287	KEEP	10	27	-1	91	85	10	27	-1	87.820308	91	85	0.182292	1	0	0	0	0	0	0	1	0	--	--		0	T			POLR3D_uc003xbm.2_Silent_p.N171N|POLR3D_uc011kze.1_RNA	166	GBM-19-2629-TP	p.N171N	C	GCCTGAGGAACGACACTCGAA	NM_001722	NP_001713	22106020	P05423	RPC4_HUMAN	0		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	6	596	+	T	T			Silent	171						
POLRMT	5442	broad.mit.edu	GRCh37	19	629657	629657	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6390-01	TCGA-06-6390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000588649.2:c.705C>T	p.Leu235=	p.L235=	ENST00000588649	NM_005035.3	235	ctC/ctT	0			1			A	L	uc002lpf.1	protein_coding	YES	CCDS12036.1			705/3693									ovary(1)|pancreas(1)	2	c.(703-705)CTC>CTT			hmmpanther:PTHR10102:SF0,hmmpanther:PTHR10102	mitochondrial DNA-directed RNA polymerase				ENSP00000465759		21-Mar										21-Mar	.		ENST00000588649	Transcript			transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	ENSG00000099821	g.chr19:629657G>A	9200			LOW								--	--	1																																				1			p.L235L	NM_005035	NP_005026				RPOM_HUMAN	POLRMT	HGNC	O00411	RPOM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)			3	761	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	UPI000013C68E	235					SNV	POLRMT,synonymous_variant,p.=,ENST00000588649,NM_005035.3;POLRMT,synonymous_variant,p.=,ENST00000590573,;POLRMT,upstream_gene_variant,,ENST00000586384,;POLRMT,upstream_gene_variant,,ENST00000590709,;POLRMT,downstream_gene_variant,,ENST00000607260,;POLRMT,upstream_gene_variant,,ENST00000588630,;POLRMT,downstream_gene_variant,,ENST00000592863,;	uc002lpf.1	c.705C>T	790/3829	2	2			c.705C>T						19	SNP	c.(703-705)CTC>CTT	27	27			ovary(1)|pancreas(1)	2	Broad	mitochondrial DNA-directed RNA polymerase			629657		0.662	ENSG00000099821	12040	g.chr19:629657G>A	transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding							1.627735	KEEP	1	5	-1	28	30	1	5	-1	11.43097	28	30	0.087719	1	0	0	0	0	0	0	1	0	--	--		0	A				106	GBM-06-6390-TP	p.L235L	G	GCTGGTCAGTGAGCAGGCAGC	NM_005035	NP_005026	629657	O00411	RPOM_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	761	-	A	A		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	Silent	235						
POLRMT	0	broad.mit.edu	GRCh37	19	618520	618522	+	inframe_deletion	In_Frame_Del	DEL	GGA	GGA	-			TCGA-19-5952-01	TCGA-19-5952-01	GGA	GGA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000588649.2:c.3388_3390delTCC	p.Ser1130del	p.S1130del	ENST00000588649	NM_005035.3	1130	TCC/-	0			1			-	S/-	uc002lpf.1	protein_coding	YES	CCDS12036.1			3388-3390/3693									ovary(1)|pancreas(1)	2	c.(3388-3390)TCCdel			hmmpanther:PTHR10102:SF0,hmmpanther:PTHR10102,Gene3D:3.30.70.370,Pfam_domain:PF00940,Superfamily_domains:SSF56672	mitochondrial DNA-directed RNA polymerase				ENSP00000465759		17/21										17/21	.		ENST00000588649	Transcript			transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	ENSG00000099821	g.chr19:618520_618522delGGA	9200			MODERATE								--	--	1																																				1			p.S1130del	NM_005035	NP_005026				RPOM_HUMAN	POLRMT	HGNC	O00411	RPOM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)			17	3444_3446	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	UPI000013C68E	1130			Mediates interaction with TEFM.		deletion	POLRMT,inframe_deletion,p.Ser1130del,ENST00000588649,NM_005035.3;POLRMT,inframe_deletion,p.Ser37del,ENST00000590336,;HCN2,downstream_gene_variant,,ENST00000251287,NM_001194.3;POLRMT,downstream_gene_variant,,ENST00000590573,;AC005559.2,upstream_gene_variant,,ENST00000591847,;LLNLR-299G3.1,upstream_gene_variant,,ENST00000607288,;POLRMT,non_coding_transcript_exon_variant,,ENST00000587057,;POLRMT,downstream_gene_variant,,ENST00000586384,;POLRMT,downstream_gene_variant,,ENST00000590709,;POLRMT,upstream_gene_variant,,ENST00000592633,;POLRMT,upstream_gene_variant,,ENST00000589961,;	uc002lpf.1	c.3388_3390delTCC	3473-3475/3829	5	5			c.3388_3390delTCC						19	DEL	c.(3388-3390)TCCdel	30	30			ovary(1)|pancreas(1)	2	Broad	mitochondrial DNA-directed RNA polymerase			618522		0.66	ENSG00000099821	12040	g.chr19:618520_618522delGGA	transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding																				0.2	1	1	0	1	0	0	0	0	0	--	--		0	-				172	GBM-19-5952-TP	p.S1130del	GGA	GCATCATGTGGGAGGAGTCCAGC	NM_005035	NP_005026	618520	O00411	RPOM_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	17	3444_3446	-	-	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	In_Frame_Del	1130			Mediates interaction with TEFM.			
POM121	9883	broad.mit.edu	GRCh37	7	72413475	72413475	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5856-01	TCGA-06-5856-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395270.1:c.2148G>A	p.Gly716=	p.G716=	ENST00000395270	NM_001257190.2	716	ggG/ggA	0			1			A	G	uc003twk.2	protein_coding					2943/3750										0	c.(2941-2943)GGG>GGA			hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF5	nuclear pore membrane protein 121				ENSP00000405562		13-Nov	8.24E-06	0.000109							rs782810043,COSM3412259,COSM3412261,COSM3412260	13-Nov	.		ENST00000434423	Transcript			carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		ENSG00000196313	g.chr7:72413475G>A	19702			LOW								--	--	1																																		POM121_uc003twj.2_Silent_p.G716G|POM121_uc010lam.1_Silent_p.G716G	0,1,1,1				p.G981G	NM_172020	NP_742017			0,1,1,1	P121A_HUMAN	POM121	HGNC	Q96HA1	P121A_HUMAN			A8MY32_HUMAN		11	2943	+		Lung NSC(55;0.163)	UPI00017BE7A5	981			Pore side (Potential).		SNV	POM121,synonymous_variant,p.=,ENST00000395270,NM_001257190.2;POM121,synonymous_variant,p.=,ENST00000257622,NM_172020.4;POM121,synonymous_variant,p.=,ENST00000358357,;POM121,synonymous_variant,p.=,ENST00000446813,;POM121,synonymous_variant,p.=,ENST00000434423,;NSUN5P2,downstream_gene_variant,,ENST00000602348,;	uc003twk.2	c.2943G>A	2943/3750	1	1			c.2943G>A						7	SNP	c.(2941-2943)GGG>GGA	64	64				0	Broad	nuclear pore membrane protein 121			72413475		0.652	ENSG00000196313	12041	g.chr7:72413475G>A	carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore								-24.87261	KEEP	0	8	-1	78	89	0	8	-1	9.440787	78	89	0.04	1	0	0	0	0	0	0	1	0	--	--		0	A			POM121_uc003twj.2_Silent_p.G716G|POM121_uc010lam.1_Silent_p.G716G	101	GBM-06-5856-TP	p.G981G	G	AGCCACCGGGGGCCGCCAAGC	NM_172020	NP_742017	72413475	Q96HA1	P121A_HUMAN	0			11	2943	+	A	A		Lung NSC(55;0.163)	Silent	981			Pore side (Potential).			
POM121	0	broad.mit.edu	GRCh37	7	72413425	72413425	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01	TCGA-32-4211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000434423.2:c.2893G>A	p.Gly965Arg	p.G965R	ENST00000434423		965	Gga/Aga	0			1			A	G/R	uc003twk.2	protein_coding					2893/3750										0	c.(2893-2895)GGA>AGA			hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF5	nuclear pore membrane protein 121				ENSP00000405562		13-Nov									COSM3412256,COSM3412258,COSM3412257	13-Nov	.		ENST00000434423	Transcript			carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		ENSG00000196313	g.chr7:72413425G>A	19702			MODERATE		2.035	medium	getma.org/?cm=msa&ty=f&p=P121A_HUMAN&rb=561&re=1248&var=G965R	NA	getma.org/?cm=var&var=hg19,7,72413425,G,A&fts=all	G965R	--	--	1																																		POM121_uc003twj.2_Missense_Mutation_p.G700R|POM121_uc010lam.1_Missense_Mutation_p.G700R	1,1,1			probably_damaging(0.984)	p.G965R	NM_172020	NP_742017		deleterious(0.02)	1,1,1	P121A_HUMAN	POM121	HGNC	Q96HA1	P121A_HUMAN			A8MY32_HUMAN		11	2893	+		Lung NSC(55;0.163)	UPI00017BE7A5	965			Pore side (Potential).		SNV	POM121,missense_variant,p.Gly700Arg,ENST00000395270,NM_001257190.2;POM121,missense_variant,p.Gly700Arg,ENST00000257622,NM_172020.4;POM121,missense_variant,p.Gly700Arg,ENST00000358357,;POM121,missense_variant,p.Gly700Arg,ENST00000446813,;POM121,missense_variant,p.Gly965Arg,ENST00000434423,;NSUN5P2,downstream_gene_variant,,ENST00000602348,;	uc003twk.2	c.2893G>A	2893/3750	2	2			c.2893G>A						7	SNP	c.(2893-2895)GGA>AGA	48	48				0	Broad	nuclear pore membrane protein 121			72413425		0.647	ENSG00000196313	12041	g.chr7:72413425G>A	carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore								10.326341	KEEP	6	14	-1	117	130	6	14	-1	31.57054	117	130	0.098485	1	0	0	0	0	1	0	0	0	--	--		0	A			POM121_uc003twj.2_Missense_Mutation_p.G700R|POM121_uc010lam.1_Missense_Mutation_p.G700R	246	GBM-32-4211-TP	p.G965R	G	ATCATATCCGGGAGCCAACCC	NM_172020	NP_742017	72413425	Q96HA1	P121A_HUMAN	0			11	2893	+	A	A		Lung NSC(55;0.163)	Missense_Mutation	965			Pore side (Potential).			
POM121C	0	broad.mit.edu	GRCh37	7	75070792	75070792	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T			TCGA-14-4157-01	TCGA-14-4157-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000453279.2:c.-18T>A		*6*	ENST00000453279	NM_001099415.2			0			1			T		uc010lde.1	protein_coding	YES	CCDS47617.1			-/2964										0	c.(709-711)TCC>ACC				Homo sapiens POM121-2 mRNA for nuclear pore membrane protein 121-2, partial cds.				ENSP00000414208		15-Apr									COSM3412300	15-Apr	.		ENST00000453279	Transcript			mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	ENSG00000135213	g.chr7:75070792A>T	34005			MODIFIER								--	--	1																																		POM121C_uc003udk.3_5'UTR|POM121C_uc003udl.1_RNA	1	1			p.S237T					1	P121C_HUMAN	POM121C	HGNC	A8CG34	P121C_HUMAN			C9JFL1_HUMAN,B4DDR5_HUMAN,A8MY32_HUMAN		2	709	-			UPI00001C1E87	237			Required for targeting to the nucleus and nuclear pore complex.|Pore side (Potential).		SNV	POM121C,missense_variant,p.Ser237Thr,ENST00000257665,;POM121C,5_prime_UTR_variant,,ENST00000453279,NM_001099415.2;POM121C,5_prime_UTR_variant,,ENST00000398379,;POM121C,upstream_gene_variant,,ENST00000439629,;POM121C,upstream_gene_variant,,ENST00000473168,;POM121C,upstream_gene_variant,,ENST00000479864,;	uc010lde.1	c.709T>A	848/5839	1	1			c.709T>A						7	SNP	c.(709-711)TCC>ACC	14	14				0	Broad	Homo sapiens POM121-2 mRNA for nuclear pore membrane protein 121-2, partial cds.			75070792		0.527	ENSG00000135213	12042	g.chr7:75070792A>T	mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding							44.418454	KEEP	15	8	-1	35	36	15	8	-1	47.332936	35	36	0.276923	1	0	0	0	0	1	0	0	0	--	--		0	T			POM121C_uc003udk.3_5'UTR|POM121C_uc003udl.1_RNA	152	GBM-14-4157-TP	p.S237T	A	TTGCGAGGGGACAGCACAGCC			75070792	A8CG34	P121C_HUMAN	0			2	709	-	T	T			Missense_Mutation	237			Required for targeting to the nucleus and nuclear pore complex.|Pore side (Potential).			
POM121C	0	broad.mit.edu	GRCh37	7	75068439	75068439	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-26-5139-01	TCGA-26-5139-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000453279.2:c.291C>A	p.Pro97=	p.P97=	ENST00000453279	NM_001099415.2	97	ccC/ccA	0			1			T	P	uc010lde.1	protein_coding	YES	CCDS47617.1			291/2964										0	c.(1015-1017)CCC>CCA			Pfam_domain:PF15229,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF5	Homo sapiens POM121-2 mRNA for nuclear pore membrane protein 121-2, partial cds.				ENSP00000414208		15-Jun									COSM3412298,COSM3412299	15-Jun	.		ENST00000453279	Transcript			mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	ENSG00000135213	g.chr7:75068439G>T	34005			LOW								--	--	1																																		POM121C_uc003udk.3_Silent_p.P97P	1,1	1			p.P339P					1,1	P121C_HUMAN	POM121C	HGNC	A8CG34	P121C_HUMAN			C9JFL1_HUMAN,B4DDR5_HUMAN,A8MY32_HUMAN		4	1017	-			UPI00001C1E87	339			Required for targeting to the nucleus and nuclear pore complex.|Pore side (Potential).|Ser-rich.		SNV	POM121C,synonymous_variant,p.=,ENST00000453279,NM_001099415.2;POM121C,synonymous_variant,p.=,ENST00000257665,;POM121C,5_prime_UTR_variant,,ENST00000439629,;POM121C,downstream_gene_variant,,ENST00000398379,;POM121C,upstream_gene_variant,,ENST00000473168,;POM121C,upstream_gene_variant,,ENST00000479864,;	uc010lde.1	c.1017C>A	1156/5839	2	2			c.1017C>A						7	SNP	c.(1015-1017)CCC>CCA	20	20				0	Broad	Homo sapiens POM121-2 mRNA for nuclear pore membrane protein 121-2, partial cds.			75068439		0.468	ENSG00000135213	12042	g.chr7:75068439G>T	mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding							-149.212354	KEEP	4	4	0.5	318	329	4	4	0.5	10.30036	318	329	0.013536	1	0	0	0	0	0	0	1	0	--	--		0	T			POM121C_uc003udk.3_Silent_p.P97P	186	GBM-26-5139-TP	p.P339P	G	CAAAAGAAGCGGGGACTCCAC			75068439	A8CG34	P121C_HUMAN	0			4	1017	-	T	T			Silent	339			Required for targeting to the nucleus and nuclear pore complex.|Pore side (Potential).|Ser-rich.			
POM121C	0	broad.mit.edu	GRCh37	7	75048122	75048122	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-4934-01	TCGA-76-4934-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000453279.2:c.2921G>T	p.Arg974Leu	p.R974L	ENST00000453279	NM_001099415.2	974	cGa/cTa	0			1			A	R/L	uc003udk.3	protein_coding	YES	CCDS47617.1			2921/2964										0	c.(2920-2922)CGA>CTA			hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF5	POM121 membrane glycoprotein (rat)-like				ENSP00000414208		15/15									COSM3412294,COSM3412295	15/15	.		ENST00000453279	Transcript			mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	ENSG00000135213	g.chr7:75048122C>A	34005			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=P121B_HUMAN&rb=8&re=832&var=R821L	NA	getma.org/?cm=var&var=hg19,7,75048122,C,A&fts=all	R821L	--	--	1																																			1,1	1		possibly_damaging(0.707)	p.R974L	NM_001099415	NP_001092885		deleterious(0)	1,1	P121C_HUMAN	POM121C	HGNC	A8CG34	P121C_HUMAN			C9JFL1_HUMAN,B4DDR5_HUMAN,A8MY32_HUMAN		15	3806	-			UPI00001C1E87	1216			Pore side (Potential).		SNV	POM121C,missense_variant,p.Arg974Leu,ENST00000453279,NM_001099415.2;POM121C,missense_variant,p.Arg1216Leu,ENST00000257665,;NSUN5P1,downstream_gene_variant,,ENST00000393633,;NSUN5P1,downstream_gene_variant,,ENST00000457988,;NSUN5P1,downstream_gene_variant,,ENST00000428392,;NSUN5P1,downstream_gene_variant,,ENST00000422386,;NSUN5P1,downstream_gene_variant,,ENST00000455158,;POM121C,downstream_gene_variant,,ENST00000473168,;NSUN5P1,downstream_gene_variant,,ENST00000464979,;POM121C,non_coding_transcript_exon_variant,,ENST00000476072,;POM121C,downstream_gene_variant,,ENST00000473609,;NSUN5P1,downstream_gene_variant,,ENST00000421140,;NSUN5P1,downstream_gene_variant,,ENST00000427550,;	uc003udk.3	c.2921G>T	3786/5839	1	1			c.2921G>T						7	SNP	c.(2920-2922)CGA>CTA	57	57				0	Broad	POM121 membrane glycoprotein (rat)-like			75048122		0.592	ENSG00000135213	12042	g.chr7:75048122C>A	mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding							111.128715	KEEP	52	25	0.324675325	50	46	52	25	0.324675325	111.297746	50	46	0.555556	1	0	0	0	0	1	0	0	0	--	--		0	A				272	GBM-76-4934-TP	p.R974L	C	CAGTCGCTGTCGAGCCCCTGG	NM_001099415	NP_001092885	75048122	A8CG34	P121C_HUMAN	0			15	3806	-	A	A			Missense_Mutation	1216			Pore side (Potential).			
POM121C	100101267		GRCh37	7	75051383	75051383	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0165-01	TCGA-06-0165-01																				ENST00000453279.2:c.2152G>A	p.Ala718Thr	p.A718T	ENST00000453279	NM_001099415.2	718	Gcc/Acc	0																																																																																																																																																																																																																																												
POM121L12	285877	broad.mit.edu	GRCh37	7	53103860	53103860	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01	TCGA-02-2485-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408890.4:c.496G>A	p.Ala166Thr	p.A166T	ENST00000408890	NM_182595.3	166	Gcc/Acc	0			1			A	A/T	uc003tpz.2	protein_coding	YES	CCDS43584.1			496/891										0	c.(496-498)GCC>ACC			hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF25,Low_complexity_(Seg):seg	POM121 membrane glycoprotein-like 12				ENSP00000386133		1-Jan									COSM1221538	1-Jan	.		ENST00000408890	Transcript						ENSG00000221900	g.chr7:53103860G>A	25369			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=P1L12_HUMAN&rb=2&re=294&var=A166T	NA	getma.org/?cm=var&var=hg19,7,53103860,G,A&fts=all	A166T	--	--	1																																			1	1		probably_damaging(0.913)	p.A166T	NM_182595	NP_872401		tolerated(0.22)	1	P1L12_HUMAN	POM121L12	HGNC	Q8N7R1	P1L12_HUMAN					1	512	+			UPI00001B6540	166					SNV	POM121L12,missense_variant,p.Ala166Thr,ENST00000408890,NM_182595.3;	uc003tpz.2	c.496G>A	512/1269	2	2			c.496G>A						7	SNP	c.(496-498)GCC>ACC	44	44				0	Broad	POM121 membrane glycoprotein-like 12			53103860		0.587	ENSG00000221900	12043	g.chr7:53103860G>A										191.27368	KEEP	34	43	-1	10	13	34	43	-1	198.382914	10	13	0.810127	1	0	0	0	0	1	0	0	0	--	--		0	A				7	GBM-02-2485-TP	p.A166T	G	ccgccccgccgcccAGGAGCT	NM_182595	NP_872401	53103860	Q8N7R1	P1L12_HUMAN	0			1	512	+	A	A			Missense_Mutation	166						
POM121L12	285877	broad.mit.edu	GRCh37	7	53104151	53104151	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01	TCGA-02-2485-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408890.4:c.787G>A	p.Ala263Thr	p.A263T	ENST00000408890	NM_182595.3	263	Gcc/Acc	0			1			A	A/T	uc003tpz.2	protein_coding	YES	CCDS43584.1			787/891										0	c.(787-789)GCC>ACC				POM121 membrane glycoprotein-like 12				ENSP00000386133		1-Jan	2.48E-05				0.000151	1.50E-05			rs749141757,COSM1472055	1-Jan	.		ENST00000408890	Transcript						ENSG00000221900	g.chr7:53104151G>A	25369			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=P1L12_HUMAN&rb=2&re=294&var=A263T	NA	getma.org/?cm=var&var=hg19,7,53104151,G,A&fts=all	A263T	--	--	1																																			0,1	1		probably_damaging(0.913)	p.A263T	NM_182595	NP_872401		deleterious_low_confidence(0.01)	0,1	P1L12_HUMAN	POM121L12	HGNC	Q8N7R1	P1L12_HUMAN					1	803	+			UPI00001B6540	263					SNV	POM121L12,missense_variant,p.Ala263Thr,ENST00000408890,NM_182595.3;	uc003tpz.2	c.787G>A	803/1269	2	2			c.787G>A						7	SNP	c.(787-789)GCC>ACC	47	47				0	Broad	POM121 membrane glycoprotein-like 12			53104151		0.662	ENSG00000221900	12043	g.chr7:53104151G>A										44.322614	KEEP	24	23	-1	152	187	24	23	-1	84.719234	152	187	0.125424	1	0	0	0	0	1	0	0	0	--	--		0	A				7	GBM-02-2485-TP	p.A263T	G	CGCCCCATCCGCCATCTGGGA	NM_182595	NP_872401	53104151	Q8N7R1	P1L12_HUMAN	0			1	803	+	A	A			Missense_Mutation	263						
POM121L12	285877	broad.mit.edu	GRCh37	7	53103630	53103630	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408890.4:c.266C>T	p.Pro89Leu	p.P89L	ENST00000408890	NM_182595.3	89	cCg/cTg	0			1			T	P/L	uc003tpz.2	protein_coding	YES	CCDS43584.1			266/891										0	c.(265-267)CCG>CTG			hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF25	POM121 membrane glycoprotein-like 12				ENSP00000386133		1-Jan	1.66E-05			0.000122				6.12E-05	rs746047304,COSM2149742	1-Jan	.		ENST00000408890	Transcript						ENSG00000221900	g.chr7:53103630C>T	25369			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=P1L12_HUMAN&rb=2&re=294&var=P89L	NA	getma.org/?cm=var&var=hg19,7,53103630,C,T&fts=all	P89L	--	--	1																																			0,1	1		benign(0.005)	p.P89L	NM_182595	NP_872401		tolerated(0.32)	0,1	P1L12_HUMAN	POM121L12	HGNC	Q8N7R1	P1L12_HUMAN					1	282	+			UPI00001B6540	89					SNV	POM121L12,missense_variant,p.Pro89Leu,ENST00000408890,NM_182595.3;	uc003tpz.2	c.266C>T	282/1269	1	1			c.266C>T						7	SNP	c.(265-267)CCG>CTG	1	1				0	Broad	POM121 membrane glycoprotein-like 12			53103630		0.692	ENSG00000221900	12043	g.chr7:53103630C>T										54.737892	KEEP	8	15	-1	27	23	8	15	-1	55.269146	27	23	0.387755	1	0	0	0	0	1	0	0	0	--	--		0	T				23	GBM-06-0145-TP	p.P89L	C	CCCGCCAAGCCGCAGCGGGTG	NM_182595	NP_872401	53103630	Q8N7R1	P1L12_HUMAN	0			1	282	+	T	T			Missense_Mutation	89						
POM121L12	285877	broad.mit.edu	GRCh37	7	53104084	53104084	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2567-01	TCGA-06-2567-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408890.4:c.720C>T	p.Leu240=	p.L240=	ENST00000408890	NM_182595.3	240	ctC/ctT	0	T:0		1			T	L	uc003tpz.2	protein_coding	YES	CCDS43584.1			720/891										0	c.(718-720)CTC>CTT			Pfam_domain:PF15229,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF25	POM121 membrane glycoprotein-like 12			T:0.0001	ENSP00000386133		1-Jan	0.000124					0.000165		0.000242	rs200244415,COSM2153059	1-Jan	.		ENST00000408890	Transcript						ENSG00000221900	g.chr7:53104084C>T	25369			LOW								--	--	1																																			0,1	1			p.L240L	NM_182595	NP_872401			0,1	P1L12_HUMAN	POM121L12	HGNC	Q8N7R1	P1L12_HUMAN					1	736	+			UPI00001B6540	240					SNV	POM121L12,synonymous_variant,p.=,ENST00000408890,NM_182595.3;	uc003tpz.2	c.720C>T	736/1269	1	1			c.720C>T						7	SNP	c.(718-720)CTC>CTT	4	4				0	Broad	POM121 membrane glycoprotein-like 12			53104084		0.647	ENSG00000221900	12043	g.chr7:53104084C>T										142.703982	KEEP	22	28	-1	41	30	22	28	-1	142.946344	41	30	0.448598	1	0	0	0	0	0	0	1	0	--	--		0	T				89	GBM-06-2567-TP	p.L240L	C	AGCCGAGCCTCGGCCCCTGGA	NM_182595	NP_872401	53104084	Q8N7R1	P1L12_HUMAN	0			1	736	+	T	T			Silent	240						
POM121L12	285877	broad.mit.edu	GRCh37	7	53103406	53103406	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408890.4:c.42C>T	p.Asn14=	p.N14=	ENST00000408890	NM_182595.3	14	aaC/aaT	0			1			T	N	uc003tpz.2	protein_coding	YES	CCDS43584.1			42/891										0	c.(40-42)AAC>AAT			hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF25	POM121 membrane glycoprotein-like 12				ENSP00000386133		1-Jan									COSM2153332	1-Jan	.		ENST00000408890	Transcript						ENSG00000221900	g.chr7:53103406C>T	25369			LOW								--	--	1																																			1	1			p.N14N	NM_182595	NP_872401			1	P1L12_HUMAN	POM121L12	HGNC	Q8N7R1	P1L12_HUMAN					1	58	+			UPI00001B6540	14					SNV	POM121L12,synonymous_variant,p.=,ENST00000408890,NM_182595.3;	uc003tpz.2	c.42C>T	58/1269	2	2			c.42C>T						7	SNP	c.(40-42)AAC>AAT	25	25				0	Broad	POM121 membrane glycoprotein-like 12			53103406		0.706	ENSG00000221900	12043	g.chr7:53103406C>T										24.801866	KEEP	3	10	-1	18	17	3	10	-1	27.129761	18	17	0.255814	1	0	0	0	0	0	0	1	0	--	--		0	T				100	GBM-06-5418-TP	p.N14N	C	ACCTCGGGAACTTCTGGAAGG	NM_182595	NP_872401	53103406	Q8N7R1	P1L12_HUMAN	0			1	58	+	T	T			Silent	14						
POM121L12	285877	broad.mit.edu	GRCh37	7	53104043	53104043	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408890.4:c.679G>T	p.Ala227Ser	p.A227S	ENST00000408890	NM_182595.3	227	Gct/Tct	0			1			T	A/S	uc003tpz.2	protein_coding	YES	CCDS43584.1			679/891										0	c.(679-681)GCT>TCT			Pfam_domain:PF15229,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF25	POM121 membrane glycoprotein-like 12				ENSP00000386133		1-Jan									COSM601640	1-Jan	.		ENST00000408890	Transcript						ENSG00000221900	g.chr7:53104043G>T	25369			MODERATE		-0.11	neutral	getma.org/?cm=msa&ty=f&p=P1L12_HUMAN&rb=2&re=294&var=A227S	NA	getma.org/?cm=var&var=hg19,7,53104043,G,T&fts=all	A227S	--	--	1																																			1	1		possibly_damaging(0.866)	p.A227S	NM_182595	NP_872401		deleterious(0.05)	1	P1L12_HUMAN	POM121L12	HGNC	Q8N7R1	P1L12_HUMAN					1	695	+			UPI00001B6540	227					SNV	POM121L12,missense_variant,p.Ala227Ser,ENST00000408890,NM_182595.3;	uc003tpz.2	c.679G>T	695/1269	2	2			c.679G>T						7	SNP	c.(679-681)GCT>TCT	39	39				0	Broad	POM121 membrane glycoprotein-like 12			53104043		0.647	ENSG00000221900	12043	g.chr7:53104043G>T										236.18405	KEEP	38	43	0.469135802	34	62	38	43	0.469135802	236.370249	34	62	0.464706	1	0	0	0	0	1	0	0	0	--	--		0	T				102	GBM-06-5858-TP	p.A227S	G	TGGAGCGGTTGCTTCCTTCGT	NM_182595	NP_872401	53104043	Q8N7R1	P1L12_HUMAN	0			1	695	+	T	T			Missense_Mutation	227						
POM121L12	0	broad.mit.edu	GRCh37	7	53103790	53103790	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408890.4:c.426G>A	p.Ala142=	p.A142=	ENST00000408890	NM_182595.3	142	gcG/gcA	0			1			A	A	uc003tpz.2	protein_coding	YES	CCDS43584.1			426/891										0	c.(424-426)GCG>GCA			hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF25	POM121 membrane glycoprotein-like 12				ENSP00000386133		1-Jan									COSM1090724	1-Jan	.		ENST00000408890	Transcript						ENSG00000221900	g.chr7:53103790G>A	25369			LOW								--	--	1																																			1	1			p.A142A	NM_182595	NP_872401			1	P1L12_HUMAN	POM121L12	HGNC	Q8N7R1	P1L12_HUMAN					1	442	+			UPI00001B6540	142					SNV	POM121L12,synonymous_variant,p.=,ENST00000408890,NM_182595.3;	uc003tpz.2	c.426G>A	442/1269	2	2			c.426G>A						7	SNP	c.(424-426)GCG>GCA	24	24				0	Broad	POM121 membrane glycoprotein-like 12			53103790		0.587	ENSG00000221900	12043	g.chr7:53103790G>A										62.502341	KEEP	8	19	-1	18	26	8	19	-1	63.727876	18	26	0.353846	1	0	0	0	0	0	0	1	0	--	--		0	A				159	GBM-19-1390-TP	p.A142A	G	TCGGGATCGCGCCCCCTGAGC	NM_182595	NP_872401	53103790	Q8N7R1	P1L12_HUMAN	0			1	442	+	A	A			Silent	142						
POM121L12	0	broad.mit.edu	GRCh37	7	53103915	53103915	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-19-1390-01	TCGA-19-1390-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408890.4:c.551A>T	p.Gln184Leu	p.Q184L	ENST00000408890	NM_182595.3	184	cAg/cTg	0			1			T	Q/L	uc003tpz.2	protein_coding	YES	CCDS43584.1			551/891										0	c.(550-552)CAG>CTG			Pfam_domain:PF15229,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF25	POM121 membrane glycoprotein-like 12				ENSP00000386133		1-Jan									COSM3412155	1-Jan	.		ENST00000408890	Transcript						ENSG00000221900	g.chr7:53103915A>T	25369			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=P1L12_HUMAN&rb=2&re=294&var=Q184L	NA	getma.org/?cm=var&var=hg19,7,53103915,A,T&fts=all	Q184L	--	--	1																																			1	1		benign(0.316)	p.Q184L	NM_182595	NP_872401		deleterious(0.03)	1	P1L12_HUMAN	POM121L12	HGNC	Q8N7R1	P1L12_HUMAN					1	567	+			UPI00001B6540	184					SNV	POM121L12,missense_variant,p.Gln184Leu,ENST00000408890,NM_182595.3;	uc003tpz.2	c.551A>T	567/1269	1	1			c.551A>T						7	SNP	c.(550-552)CAG>CTG	4	4				0	Broad	POM121 membrane glycoprotein-like 12			53103915		0.577	ENSG00000221900	12043	g.chr7:53103915A>T										9.993096	KEEP	4	6	-1	43	52	4	6	-1	23.694639	43	52	0.10989	1	0	0	0	0	1	0	0	0	--	--		0	T				159	GBM-19-1390-TP	p.Q184L	A	GCGCTCAGCCAGTGCCCCAAG	NM_182595	NP_872401	53103915	Q8N7R1	P1L12_HUMAN	0			1	567	+	T	T			Missense_Mutation	184						
POM121L12	0	broad.mit.edu	GRCh37	7	53103741	53103741	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01	TCGA-19-2623-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408890.4:c.377G>A	p.Arg126His	p.R126H	ENST00000408890	NM_182595.3	126	cGt/cAt	0			1			A	R/H	uc003tpz.2	protein_coding	YES	CCDS43584.1			377/891										0	c.(376-378)CGT>CAT			hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF25	POM121 membrane glycoprotein-like 12				ENSP00000386133		1-Jan									COSM3265942	1-Jan	.		ENST00000408890	Transcript						ENSG00000221900	g.chr7:53103741G>A	25369			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=P1L12_HUMAN&rb=2&re=294&var=R126H	NA	getma.org/?cm=var&var=hg19,7,53103741,G,A&fts=all	R126H	--	--	1																																			1	1		probably_damaging(0.923)	p.R126H	NM_182595	NP_872401		tolerated(0.12)	1	P1L12_HUMAN	POM121L12	HGNC	Q8N7R1	P1L12_HUMAN					1	393	+			UPI00001B6540	126					SNV	POM121L12,missense_variant,p.Arg126His,ENST00000408890,NM_182595.3;	uc003tpz.2	c.377G>A	393/1269	2	2			c.377G>A						7	SNP	c.(376-378)CGT>CAT	21	21				0	Broad	POM121 membrane glycoprotein-like 12			53103741		0.672	ENSG00000221900	12043	g.chr7:53103741G>A										31.014893	KEEP	13	5	-1	35	28	13	5	-1	36.668465	35	28	0.202899	1	0	0	0	0	1	0	0	0	--	--		0	A				163	GBM-19-2623-TP	p.R126H	G	GGGCTGTGTCGTGCCTGGAAC	NM_182595	NP_872401	53103741	Q8N7R1	P1L12_HUMAN	0			1	393	+	A	A			Missense_Mutation	126						
POM121L12	0	broad.mit.edu	GRCh37	7	53103950	53103950	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-26-1439-01	TCGA-26-1439-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408890.4:c.586T>C	p.Leu196=	p.L196=	ENST00000408890	NM_182595.3	196	Ttg/Ctg	0			1			C	L	uc003tpz.2	protein_coding	YES	CCDS43584.1			586/891										0	c.(586-588)TTG>CTG			Pfam_domain:PF15229,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF25	POM121 membrane glycoprotein-like 12				ENSP00000386133		1-Jan									COSM2156864	1-Jan	.		ENST00000408890	Transcript						ENSG00000221900	g.chr7:53103950T>C	25369			LOW								--	--	1																																			1	1			p.L196L	NM_182595	NP_872401			1	P1L12_HUMAN	POM121L12	HGNC	Q8N7R1	P1L12_HUMAN					1	602	+			UPI00001B6540	196					SNV	POM121L12,synonymous_variant,p.=,ENST00000408890,NM_182595.3;	uc003tpz.2	c.586T>C	602/1269	4	4			c.586T>C						7	SNP	c.(586-588)TTG>CTG	33	33				0	Broad	POM121 membrane glycoprotein-like 12			53103950		0.607	ENSG00000221900	12043	g.chr7:53103950T>C										156.776355	KEEP	30	44	-1	92	69	30	44	-1	162.126792	92	69	0.303226	1	0	0	0	0	0	0	1	0	--	--		0	C				179	GBM-26-1439-TP	p.L196L	T	CGACGGGCCGTTGTGGTTCGA	NM_182595	NP_872401	53103950	Q8N7R1	P1L12_HUMAN	0			1	602	+	C	C			Silent	196						
POMT1	10585		GRCh37	9	134394274	134394274	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000372228.3:c.1482C>T	p.Val494=	p.V494=	ENST00000372228	NM_007171.3	494	gtC/gtT	0																																																																																																																																																																																																																																												
PON1	5444	broad.mit.edu	GRCh37	7	94931534	94931534	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0744-01	TCGA-06-0744-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222381.3:c.892A>T	p.Asn298Tyr	p.N298Y	ENST00000222381	NM_000446.5	298	Aat/Tat	0			1			A	N/Y	uc003uns.2	protein_coding	YES	CCDS5638.1			892/1068									pancreas(1)	1	c.(892-894)AAT>TAT			hmmpanther:PTHR11799,hmmpanther:PTHR11799:SF3,Gene3D:2.120.10.30,Superfamily_domains:SSF63829	paraoxonase 1 precursor	Atorvastatin(DB01076)|Cefazolin(DB01327)			ENSP00000222381		9-Aug									COSM2151643	9-Aug	.		ENST00000222381	Transcript	1		aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	ENSG00000005421	g.chr7:94931534T>A	9204			MODERATE		1.78	low	getma.org/?cm=msa&ty=f&p=PON1_HUMAN&rb=254&re=355&var=N298Y	getma.org/pdb.php?prot=PON1_HUMAN&from=254&to=355&var=N298Y	getma.org/?cm=var&var=hg19,7,94931534,T,A&fts=all	N298Y	--	--	1																																		PON1_uc011kih.1_Missense_Mutation_p.N298Y	1	1		benign(0.386)	p.N298Y	NM_000446	NP_000437		tolerated(0.06)	1	PON1_HUMAN	PON1	HGNC	P27169	PON1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)				8	989	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		UPI000013C7FD	298					SNV	PON1,missense_variant,p.Asn298Tyr,ENST00000222381,NM_000446.5;PON1,missense_variant,p.Asn298Tyr,ENST00000542556,;PON1,3_prime_UTR_variant,,ENST00000433729,;PON1,non_coding_transcript_exon_variant,,ENST00000462594,;	uc003uns.2	c.892A>T	1124/2568	1	1			c.892A>T						7	SNP	c.(892-894)AAT>TAT	56	56			pancreas(1)	1	Broad	paraoxonase 1 precursor		Atorvastatin(DB01076)|Cefazolin(DB01327)	94931534		0.398	ENSG00000005421	12050	g.chr7:94931534T>A	aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	GBM(119;715 1622 17358 22490 33240)			GBM(119;715 1622 17358 22490 33240)			73.93058	KEEP	15	15	-1	47	29	15	15	-1	77.885228	47	29	0.29	1	0	0	0	0	1	0	0	0	--	--		0	A			PON1_uc011kih.1_Missense_Mutation_p.N298Y	66	GBM-06-0744-TP	p.N298Y	T	GCAGGAGGATTCTCTGAGTCA	NM_000446	NP_000437	94931534	P27169	PON1_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.0031)		8	989	-	A	A	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		Missense_Mutation	298						
PON1	0	broad.mit.edu	GRCh37	7	94953757	94953757	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-27-1833-01	TCGA-27-1833-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222381.3:c.31G>T	p.Gly11Trp	p.G11W	ENST00000222381	NM_000446.5	11	Ggg/Tgg	0			1			A	G/W	uc003uns.2	protein_coding	YES	CCDS5638.1			31/1068									pancreas(1)	1	c.(31-33)GGG>TGG			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11799,hmmpanther:PTHR11799:SF3,Gene3D:2.120.10.30	paraoxonase 1 precursor	Atorvastatin(DB01076)|Cefazolin(DB01327)			ENSP00000222381		9-Jan									COSM3412512	9-Jan	.		ENST00000222381	Transcript	1		aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	ENSG00000005421	g.chr7:94953757C>A	9204			MODERATE		2.51	medium	getma.org/?cm=msa&ty=f&p=PON1_HUMAN&rb=1&re=167&var=G11W	NA	getma.org/?cm=var&var=hg19,7,94953757,C,A&fts=all	G11W	--	--	1																																		PON1_uc011kih.1_Intron	1	1		probably_damaging(0.989)	p.G11W	NM_000446	NP_000437		deleterious(0.01)	1	PON1_HUMAN	PON1	HGNC	P27169	PON1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)				1	128	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		UPI000013C7FD	11					SNV	PON1,missense_variant,p.Gly11Trp,ENST00000222381,NM_000446.5;PON1,intron_variant,,ENST00000542556,;PON1,missense_variant,p.Gly11Trp,ENST00000433729,;	uc003uns.2	c.31G>T	263/2568	2	2			c.31G>T						7	SNP	c.(31-33)GGG>TGG	24	24			pancreas(1)	1	Broad	paraoxonase 1 precursor		Atorvastatin(DB01076)|Cefazolin(DB01327)	94953757		0.607	ENSG00000005421	12050	g.chr7:94953757C>A	aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	GBM(119;715 1622 17358 22490 33240)			GBM(119;715 1622 17358 22490 33240)			14.909323	KEEP	8	6	0.428571429	39	36	8	6	0.428571429	24.212598	39	36	0.136986	1	0	0	0	0	1	0	0	0	--	--		0	A			PON1_uc011kih.1_Intron	192	GBM-27-1833-TP	p.G11W	C	AGTCCCATCCCCAAGAGGGTG	NM_000446	NP_000437	94953757	P27169	PON1_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.0031)		1	128	-	A	A	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		Missense_Mutation	11						
PORCN	64840	broad.mit.edu	GRCh37	X	48368320	48368320	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5410-01	TCGA-06-5410-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326194.6:c.112G>A	p.Ala38Thr	p.A38T	ENST00000326194	NM_203475.1	38	Gcc/Acc	0			1			A	A/T	uc010nie.1	protein_coding	YES	CCDS14299.1			112/1386									ovary(2)|central_nervous_system(1)	3	c.(112-114)GCC>ACC			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR13906:SF10,hmmpanther:PTHR13906	porcupine isoform D				ENSP00000322304		14-Jan	8.24E-06								rs782505896,COSM3406413	14-Jan	.		ENST00000326194	Transcript	1		Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	ENSG00000102312	g.chrX:48368320G>A	17652			MODERATE		0.255	neutral	getma.org/?cm=msa&ty=f&p=PORCN_HUMAN&rb=1&re=61&var=A38T	NA	getma.org/?cm=var&var=hg19,X,48368320,G,A&fts=all	A38T	--	--	1																																		PORCN_uc004djq.1_Missense_Mutation_p.A151T|PORCN_uc004djr.1_Missense_Mutation_p.A38T|PORCN_uc004djs.1_Missense_Mutation_p.A38T|PORCN_uc004djt.1_5'UTR|PORCN_uc011mlx.1_5'UTR|PORCN_uc004dju.1_5'UTR|PORCN_uc004djv.1_Missense_Mutation_p.A38T|PORCN_uc004djw.1_Missense_Mutation_p.A38T	0,1	1		benign(0.004)	p.A38T	NM_203475	NP_982301		tolerated(0.52)	0,1	PORCN_HUMAN	PORCN	HGNC	Q9H237	PORCN_HUMAN			C9JWI5_HUMAN		2	270	+			UPI000014187F	38			Helical; (Potential).|Leu-rich.		SNV	PORCN,missense_variant,p.Ala38Thr,ENST00000359882,;PORCN,missense_variant,p.Ala38Thr,ENST00000355961,NM_203473.1;PORCN,missense_variant,p.Ala38Thr,ENST00000326194,NM_203475.1;PORCN,missense_variant,p.Ala38Thr,ENST00000355092,NM_203474.1;PORCN,missense_variant,p.Ala38Thr,ENST00000361988,NM_022825.2;PORCN,missense_variant,p.Ala38Thr,ENST00000537758,;PORCN,missense_variant,p.Ala38Thr,ENST00000489940,;PORCN,5_prime_UTR_variant,,ENST00000367574,NM_001282167.1;AF196972.9,upstream_gene_variant,,ENST00000445586,;PORCN,non_coding_transcript_exon_variant,,ENST00000486272,;PORCN,missense_variant,p.Ala102Thr,ENST00000485288,NM_001282167.1;PORCN,missense_variant,p.Ala38Thr,ENST00000472520,;PORCN,missense_variant,p.Ala38Thr,ENST00000528612,;PORCN,missense_variant,p.Ala38Thr,ENST00000470275,;PORCN,non_coding_transcript_exon_variant,,ENST00000491243,;	uc010nie.1	c.112G>A	155/1755	1	1			c.112G>A						23	SNP	c.(112-114)GCC>ACC	53	53			ovary(2)|central_nervous_system(1)	3	Broad	porcupine isoform D			48368320		0.413	ENSG00000102312	12060	g.chrX:48368320G>A	Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			97			97	-1.373443	KEEP	2	4	-1	32	36	2	4	-1	10.536916	32	36	0.076923	1	0	0	0	0	1	0	0	0	--	--		0	A			PORCN_uc004djq.1_Missense_Mutation_p.A151T|PORCN_uc004djr.1_Missense_Mutation_p.A38T|PORCN_uc004djs.1_Missense_Mutation_p.A38T|PORCN_uc004djt.1_5'UTR|PORCN_uc011mlx.1_5'UTR|PORCN_uc004dju.1_5'UTR|PORCN_uc004djv.1_Missense_Mutation_p.A38T|PORCN_uc004djw.1_Missense_Mutation_p.A38T	93	GBM-06-5410-TP	p.A38T	G	CATCTGCCTCGCCTGCCGCCT	NM_203475	NP_982301	48368320	Q9H237	PORCN_HUMAN	0			2	270	+	A	A			Missense_Mutation	38			Helical; (Potential).|Leu-rich.			
PORCN	0	broad.mit.edu	GRCh37	X	48371104	48371104	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01	TCGA-26-6174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326194.6:c.683G>A	p.Arg228His	p.R228H	ENST00000326194	NM_203475.1	228	cGc/cAc	0	A:0.0003	A:0	1	A:0		A	R/H	uc010nie.1	protein_coding	YES	CCDS14299.1			683/1386									ovary(2)|central_nervous_system(1)	3	c.(682-684)CGC>CAC			hmmpanther:PTHR13906:SF10,hmmpanther:PTHR13906,Pfam_domain:PF03062	porcupine isoform D		A:0.001	A:0.0001	ENSP00000322304	A:0	14-May	7.41E-05	0.000124	0.000113	0.000158		2.23E-05			rs373691543,COSM3406414	14-May	.		ENST00000326194	Transcript	1	A:0.0003	Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	ENSG00000102312	g.chrX:48371104G>A	17652			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=PORCN_HUMAN&rb=62&re=402&var=R228H	NA	getma.org/?cm=var&var=hg19,X,48371104,G,A&fts=all	R228H	--	--	1																																		PORCN_uc004djr.1_Missense_Mutation_p.R228H|PORCN_uc004djs.1_Missense_Mutation_p.R228H|PORCN_uc004djt.1_Missense_Mutation_p.R157H|PORCN_uc011mlx.1_Missense_Mutation_p.R157H|PORCN_uc004dju.1_Missense_Mutation_p.R97H|PORCN_uc004djv.1_Missense_Mutation_p.R228H|PORCN_uc004djw.1_Missense_Mutation_p.R228H	0,1	1		benign(0.135)	p.R228H	NM_203475	NP_982301	A:0	deleterious(0.04)	0,1	PORCN_HUMAN	PORCN	HGNC	Q9H237	PORCN_HUMAN			C9JWI5_HUMAN		6	841	+			UPI000014187F	228		R -> C (in a patient with focal dermal hypoplasia also carrying a frameshift mutation; uncertain pathological significance).	Extracellular (Potential).		SNV	PORCN,missense_variant,p.Arg157His,ENST00000367574,NM_001282167.1;PORCN,missense_variant,p.Arg228His,ENST00000359882,;PORCN,missense_variant,p.Arg228His,ENST00000355961,NM_203473.1;PORCN,missense_variant,p.Arg228His,ENST00000326194,NM_203475.1;PORCN,missense_variant,p.Arg228His,ENST00000355092,NM_203474.1;PORCN,missense_variant,p.Arg228His,ENST00000361988,NM_022825.2;PORCN,missense_variant,p.Arg228His,ENST00000537758,;PORCN,downstream_gene_variant,,ENST00000489940,;AF196972.9,upstream_gene_variant,,ENST00000445586,;PORCN,downstream_gene_variant,,ENST00000486272,;PORCN,3_prime_UTR_variant,,ENST00000485288,NM_001282167.1;PORCN,3_prime_UTR_variant,,ENST00000528612,;PORCN,non_coding_transcript_exon_variant,,ENST00000491243,;PORCN,intron_variant,,ENST00000472520,;PORCN,downstream_gene_variant,,ENST00000470275,;PORCN,upstream_gene_variant,,ENST00000459953,;	uc010nie.1	c.683G>A	726/1755	2	2			c.683G>A						23	SNP	c.(682-684)CGC>CAC	20	20			ovary(2)|central_nervous_system(1)	3	Broad	porcupine isoform D			48371104		0.622	ENSG00000102312	12060	g.chrX:48371104G>A	Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			97			97	32.201791	KEEP	6	8	-1	14	18	6	8	-1	33.823949	14	18	0.295455	1	0	0	0	0	1	0	0	0	--	--		0	A			PORCN_uc004djr.1_Missense_Mutation_p.R228H|PORCN_uc004djs.1_Missense_Mutation_p.R228H|PORCN_uc004djt.1_Missense_Mutation_p.R157H|PORCN_uc011mlx.1_Missense_Mutation_p.R157H|PORCN_uc004dju.1_Missense_Mutation_p.R97H|PORCN_uc004djv.1_Missense_Mutation_p.R228H|PORCN_uc004djw.1_Missense_Mutation_p.R228H	188	GBM-26-6174-TP	p.R228H	G	CGCCTCCTTCGCAAGTGAGCA	NM_203475	NP_982301	48371104	Q9H237	PORCN_HUMAN	0			6	841	+	A	A			Missense_Mutation	228		R -> C (in a patient with focal dermal hypoplasia also carrying a frameshift mutation; uncertain pathological significance).	Extracellular (Potential).			
PORCN	0	broad.mit.edu	GRCh37	X	48374470	48374470	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01	TCGA-41-3393-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326194.6:c.1109G>A	p.Arg370Gln	p.R370Q	ENST00000326194	NM_203475.1	370	cGg/cAg	0			1			A	R/Q	uc010nie.1	protein_coding	YES	CCDS14299.1			1109/1386						pathogenic			ovary(2)|central_nervous_system(1)	3	c.(1108-1110)CGG>CAG			hmmpanther:PTHR13906:SF10,hmmpanther:PTHR13906,Pfam_domain:PF03062	porcupine isoform D				ENSP00000322304		14-Dec	2.47E-05	0.00012				2.12E-05			rs387906723,COSM1644037	14-Dec	.		ENST00000326194	Transcript	1		Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	ENSG00000102312	g.chrX:48374470G>A	17652			MODERATE		0.6	neutral	getma.org/?cm=msa&ty=f&p=PORCN_HUMAN&rb=62&re=402&var=R370Q	NA	getma.org/?cm=var&var=hg19,X,48374470,G,A&fts=all	R370Q	--	--	1																																		PORCN_uc004djr.1_Missense_Mutation_p.R365Q|PORCN_uc004djs.1_Missense_Mutation_p.R359Q|PORCN_uc004djt.1_Missense_Mutation_p.R288Q|PORCN_uc011mlx.1_Missense_Mutation_p.R288Q|PORCN_uc004dju.1_Missense_Mutation_p.R228Q|PORCN_uc004djv.1_Missense_Mutation_p.R370Q|PORCN_uc004djw.1_Missense_Mutation_p.R364Q	1,1	1		benign(0.001)	p.R370Q	NM_203475	NP_982301		tolerated(0.59)	0,1	PORCN_HUMAN	PORCN	HGNC	Q9H237	PORCN_HUMAN			C9JWI5_HUMAN		13	1267	+			UPI000014187F	370			Extracellular (Potential).		SNV	PORCN,missense_variant,p.Arg288Gln,ENST00000367574,NM_001282167.1;PORCN,missense_variant,p.Arg364Gln,ENST00000359882,;PORCN,missense_variant,p.Arg365Gln,ENST00000355961,NM_203473.1;PORCN,missense_variant,p.Arg370Gln,ENST00000326194,NM_203475.1;PORCN,missense_variant,p.Arg364Gln,ENST00000355092,NM_203474.1;PORCN,missense_variant,p.Arg359Gln,ENST00000361988,NM_022825.2;PORCN,missense_variant,p.Arg370Gln,ENST00000537758,;PORCN,downstream_gene_variant,,ENST00000489940,;PORCN,downstream_gene_variant,,ENST00000486272,;PORCN,3_prime_UTR_variant,,ENST00000485288,NM_001282167.1;PORCN,3_prime_UTR_variant,,ENST00000472520,;PORCN,non_coding_transcript_exon_variant,,ENST00000491243,;PORCN,non_coding_transcript_exon_variant,,ENST00000459953,;PORCN,downstream_gene_variant,,ENST00000528612,;PORCN,downstream_gene_variant,,ENST00000470275,;	uc010nie.1	c.1109G>A	1152/1755	2	2			c.1109G>A						23	SNP	c.(1108-1110)CGG>CAG	26	26			ovary(2)|central_nervous_system(1)	3	Broad	porcupine isoform D			48374470		0.627	ENSG00000102312	12060	g.chrX:48374470G>A	Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			97			97	52.636954	KEEP	13	12	-1	62	45	13	12	-1	60.215586	62	45	0.215686	1	0	0	0	0	1	0	0	0	--	--		0	A			PORCN_uc004djr.1_Missense_Mutation_p.R365Q|PORCN_uc004djs.1_Missense_Mutation_p.R359Q|PORCN_uc004djt.1_Missense_Mutation_p.R288Q|PORCN_uc011mlx.1_Missense_Mutation_p.R288Q|PORCN_uc004dju.1_Missense_Mutation_p.R228Q|PORCN_uc004djv.1_Missense_Mutation_p.R370Q|PORCN_uc004djw.1_Missense_Mutation_p.R364Q	255	GBM-41-3393-TP	p.R370Q	G	CGCCTGGCTCGGATCCTCAGT	NM_203475	NP_982301	48374470	Q9H237	PORCN_HUMAN	0			13	1267	+	A	A			Missense_Mutation	370			Extracellular (Potential).			
POTEA	340441	broad.mit.edu	GRCh37	8	43147808	43147808	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A			TCGA-02-0003-01	TCGA-02-0003-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000519951.2:n.183G>A		p.*61*	ENST00000519951				0			1			A		uc003xpz.1	transcribed_unprocessed_pseudogene	YES													ovary(1)	1	c.(181-183)GTC>ATC				POTE ankyrin domain family, member A isoform 2						14-Jan									COSM2962265	14-Jan	.		ENST00000519951	Transcript						ENSG00000188877	g.chr8:43147808G>A	33893			MODIFIER		0.14	neutral	getma.org/?cm=msa&ty=f&p=POTEA_HUMAN&rb=41&re=129&var=V61I	getma.org/pdb.php?prot=POTEA_HUMAN&from=41&to=129&var=V61I	getma.org/?cm=var&var=hg19,8,43147808,G,A&fts=all	V61I	--	--	1																																		POTEA_uc003xqa.1_Missense_Mutation_p.V61I	1	1			p.V61I	NM_001005365	NP_001005365			1		POTEA	HGNC	Q6S8J7	POTEA_HUMAN					1	224	+				61					SNV	POTEA,non_coding_transcript_exon_variant,,ENST00000522175,;POTEA,non_coding_transcript_exon_variant,,ENST00000519951,;	uc003xpz.1	c.181G>A	183/2268	1	1			c.181G>A						8	SNP	c.(181-183)GTC>ATC	50	50			ovary(1)	1	Broad	POTE ankyrin domain family, member A isoform 2			43147808		0.602	ENSG00000188877	12063	g.chr8:43147808G>A										216.758022	KEEP	48	38	-1	47	67	48	38	-1	217.496456	47	67	0.432432	1	0	0	0	0	1	0	0	0	--	--		0	A			POTEA_uc003xqa.1_Missense_Mutation_p.V61I	1	GBM-02-0003-TP	p.V61I	G	AAGGTATCACGTCCGTCGAGA	NM_001005365	NP_001005365	43147808	Q6S8J7	POTEA_HUMAN	0			1	224	+	A	A			Missense_Mutation	61						
POTEA	0	broad.mit.edu	GRCh37	8	43171085	43171085	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	C			TCGA-41-3915-01	TCGA-41-3915-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000519951.2:n.958G>C		*320*	ENST00000519951				0			1			C		uc003xpz.1	transcribed_unprocessed_pseudogene	YES													ovary(1)	1	c.(955-957)AGT>ACT				POTE ankyrin domain family, member A isoform 2						14-Jul									COSM3413038	14-Jul	.		ENST00000519951	Transcript						ENSG00000188877	g.chr8:43171085G>C	33893			MODIFIER		1.585	low	getma.org/?cm=msa&ty=f&p=POTEA_HUMAN&rb=295&re=461&var=S319T	NA	getma.org/?cm=var&var=hg19,8,43171085,G,C&fts=all	S319T	--	--	1																																		POTEA_uc003xqa.1_Missense_Mutation_p.S273T	1	1			p.S319T	NM_001005365	NP_001005365			1		POTEA	HGNC	Q6S8J7	POTEA_HUMAN					7	999	+				319					SNV	POTEA,non_coding_transcript_exon_variant,,ENST00000522175,;POTEA,non_coding_transcript_exon_variant,,ENST00000519951,;RP11-726G23.12,downstream_gene_variant,,ENST00000533569,;	uc003xpz.1	c.956G>C	958/2268	3	3			c.956G>C						8	SNP	c.(955-957)AGT>ACT	15	15			ovary(1)	1	Broad	POTE ankyrin domain family, member A isoform 2			43171085		0.303	ENSG00000188877	12063	g.chr8:43171085G>C										-3.1893	KEEP	4	0	-1	23	27	4	0	-1	6.521174	23	27	0.045455	1	0	0	0	0	1	0	0	0	--	--		0	C			POTEA_uc003xqa.1_Missense_Mutation_p.S273T	256	GBM-41-3915-TP	p.S319T	G	CTTAAAGGAAGTGAAAATAGT	NM_001005365	NP_001005365	43171085	Q6S8J7	POTEA_HUMAN	0			7	999	+	C	C			Missense_Mutation	319						
POTEC	388468		GRCh37	18	14513675	14513675	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000358970.5:c.1519A>G	p.Lys507Glu	p.K507E	ENST00000358970	NM_001137671.1	507	Aaa/Gaa	0																																																																																																																																																																																																																																												
POTEC	388468		GRCh37	18	14513675	14513675	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000358970.5:c.1519A>G	p.Lys507Glu	p.K507E	ENST00000358970	NM_001137671.1	507	Aaa/Gaa	0																																																																																																																																																																																																																																												
POTEE	445582	broad.mit.edu	GRCh37	2	131976471	131976471	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356920.5:c.496G>A	p.Val166Met	p.V166M	ENST00000356920	NM_001083538.1	166	Gtg/Atg	0			1			A	V/M	uc002tsn.2	protein_coding	YES	CCDS46414.1			496/3228										0	c.(496-498)GTG>ATG			PROSITE_profiles:PS50297,hmmpanther:PTHR24118:SF46,hmmpanther:PTHR24118,Gene3D:1.25.40.20,Pfam_domain:PF12796,Superfamily_domains:SSF48403	protein expressed in prostate, ovary, testis,				ENSP00000439189		15-Jan	0.00014			0.00197					rs746254653,COSM441129,COSM441130	15-Jan	common_variant		ENST00000356920	Transcript					ATP binding	ENSG00000188219	g.chr2:131976471G>A	33895			MODERATE		2.585	medium	getma.org/?cm=msa&ty=f&p=POTEE_HUMAN&rb=143&re=236&var=V166M	getma.org/pdb.php?prot=POTEE_HUMAN&from=143&to=236&var=V166M	getma.org/?cm=var&var=hg19,2,131976471,G,A&fts=all	V166M	--	--	1																																		PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Translation_Start_Site|POTEE_uc002tsl.2_Translation_Start_Site	0,1,1	1		probably_damaging(0.971)	p.V166M	NM_001083538	NP_001077007		tolerated_low_confidence(0.38)	0,1,1	POTEE_HUMAN	POTEE	HGNC	Q6S8J3	POTEE_HUMAN					1	548	+			UPI0000F58EC8	166					SNV	POTEE,missense_variant,p.Val166Met,ENST00000356920,NM_001083538.1;POTEE,missense_variant,p.Val166Met,ENST00000358087,;PLEKHB2,intron_variant,,ENST00000404460,;PLEKHB2,intron_variant,,ENST00000303908,;AC131180.1,non_coding_transcript_exon_variant,,ENST00000514256,;	uc002tsn.2	c.496G>A	590/4031	2	2			c.496G>A						2	SNP	c.(496-498)GTG>ATG	40	40				0	Broad	protein expressed in prostate, ovary, testis,			131976471		0.592	ENSG00000188219	12066	g.chr2:131976471G>A			ATP binding							64.37264	KEEP	37	39	-1	129	137	37	39	-1	94.97822	129	137	0.14786	1	0	0	0	0	1	0	0	0	--	--		0	A			PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Translation_Start_Site|POTEE_uc002tsl.2_Translation_Start_Site	23	GBM-06-0145-TP	p.V166M	G	GGACACTGACGTGAACAAGAA	NM_001083538	NP_001077007	131976471	Q6S8J3	POTEE_HUMAN	0			1	548	+	A	A			Missense_Mutation	166						
POTEE	0	broad.mit.edu	GRCh37	2	131976263	131976263	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-16-1045-01	TCGA-16-1045-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356920.5:c.288C>A	p.Asn96Lys	p.N96K	ENST00000356920	NM_001083538.1	96	aaC/aaA	0			1			A	N/K	uc002tsn.2	protein_coding	YES	CCDS46414.1			288/3228										0	c.(286-288)AAC>AAA			hmmpanther:PTHR24118:SF46,hmmpanther:PTHR24118	protein expressed in prostate, ovary, testis,				ENSP00000439189		15-Jan	3.31E-05					1.54E-05		0.000182	rs774016121,COSM3406867,COSM3406868	15-Jan	.		ENST00000356920	Transcript					ATP binding	ENSG00000188219	g.chr2:131976263C>A	33895			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=POTEE_HUMAN&rb=1&re=142&var=N96K	NA	getma.org/?cm=var&var=hg19,2,131976263,C,A&fts=all	N96K	--	--	1																																		PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	0,1,1	1		benign(0)	p.N96K	NM_001083538	NP_001077007		deleterious_low_confidence(0.01)	0,1,1	POTEE_HUMAN	POTEE	HGNC	Q6S8J3	POTEE_HUMAN					1	340	+			UPI0000F58EC8	96					SNV	POTEE,missense_variant,p.Asn96Lys,ENST00000356920,NM_001083538.1;POTEE,missense_variant,p.Asn96Lys,ENST00000358087,;PLEKHB2,intron_variant,,ENST00000404460,;PLEKHB2,intron_variant,,ENST00000303908,;AC131180.1,intron_variant,,ENST00000514256,;	uc002tsn.2	c.288C>A	382/4031	1	1			c.288C>A						2	SNP	c.(286-288)AAC>AAA	59	59				0	Broad	protein expressed in prostate, ovary, testis,			131976263		0.617	ENSG00000188219	12066	g.chr2:131976263C>A			ATP binding							12.552592	KEEP	15	7	0.318181818	106	92	15	7	0.318181818	26.612667	106	92	0.114583	1	0	0	0	0	1	0	0	0	--	--		0	A			PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	157	GBM-16-1045-TP	p.N96K	C	CACTCAGGAACAAGATGGGGA	NM_001083538	NP_001077007	131976263	Q6S8J3	POTEE_HUMAN	0			1	340	+	A	A			Missense_Mutation	96						
POTEE	445582		GRCh37	2	131976471	131976471	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000356920.5:c.496G>A	p.Val166Met	p.V166M	ENST00000356920	NM_001083538.1	166	Gtg/Atg	0																																																																																																																																																																																																																																												
POTEE	445582		GRCh37	2	131984443	131984443	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000356920.5:c.858A>G	p.Gln286=	p.Q286=	ENST00000356920	NM_001083538.1	286	caA/caG	0																																																																																																																																																																																																																																												
POTEE	445582		GRCh37	2	132021658	132021658	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000356920.5:c.2630G>A	p.Arg877His	p.R877H	ENST00000356920	NM_001083538.1	877	cGc/cAc	0																																																																																																																																																																																																																																												
POTEF	728378	broad.mit.edu	GRCh37	2	130877828	130877828	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0168-01	TCGA-06-0168-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357462.5:c.261C>A	p.Asp87Glu	p.D87E	ENST00000357462		87	gaC/gaA	0			1			T	D/E	uc010fmh.2	protein_coding	YES	CCDS46409.1			261/3228									skin(3)|ovary(2)	5	c.(259-261)GAC>GAA			hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF46	prostate, ovary, testis expressed protein on				ENSP00000350052		15-Jan									COSM3406862,COSM3406861,COSM3406863	15-Jan	.		ENST00000357462	Transcript				cell cortex	ATP binding	ENSG00000196604	g.chr2:130877828G>T	33905			MODERATE		1.895	low	getma.org/?cm=msa&ty=f&p=POTEF_HUMAN&rb=40&re=142&var=D87E	NA	getma.org/?cm=var&var=hg19,2,130877828,G,T&fts=all	D87E	--	--	1																																			1,1,1	1		benign(0.05)	p.D87E	NM_001099771	NP_001093241		tolerated_low_confidence(0.07)	1,1,1	POTEF_HUMAN	POTEF	HGNC	A5A3E0	POTEF_HUMAN					3	661	-			UPI0000418FEA	87					SNV	POTEF,missense_variant,p.Asp87Glu,ENST00000357462,;POTEF,missense_variant,p.Asp87Glu,ENST00000409914,NM_001099771.2;POTEF,missense_variant,p.Asp87Glu,ENST00000361163,;POTEF,missense_variant,p.Asp87Glu,ENST00000360967,;	uc010fmh.2	c.261C>A	355/4031	2	2			c.261C>A						2	SNP	c.(259-261)GAC>GAA	29	29			skin(3)|ovary(2)	5	Broad	prostate, ovary, testis expressed protein on			130877828		0.612	ENSG00000196604	12067	g.chr2:130877828G>T		cell cortex	ATP binding							-63.695288	KEEP	3	4	0.428571429	182	180	3	4	0.428571429	9.495778	182	180	0.021053	1	0	0	0	0	1	0	0	0	--	--		0	T				33	GBM-06-0168-TP	p.D87E	G	TAGCAGAGTCGTCGTGGTCTC	NM_001099771	NP_001093241	130877828	A5A3E0	POTEF_HUMAN	0			3	661	-	T	T			Missense_Mutation	87						
POTEF	728378	broad.mit.edu	GRCh37	2	130877687	130877687	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0209-01	TCGA-06-0209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357462.5:c.402C>G	p.His134Gln	p.H134Q	ENST00000357462		134	caC/caG	0	A:0.0018		1			C	H/Q	uc010fmh.2	protein_coding	YES	CCDS46409.1			402/3228									skin(3)|ovary(2)	5	c.(400-402)CAC>CAG			hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF46,Superfamily_domains:SSF48403	prostate, ovary, testis expressed protein on			A:0	ENSP00000350052		15-Jan	8.24E-06		8.64E-05						rs200168896,COSM3406853,COSM3406852,COSM3406854	15-Jan	.		ENST00000357462	Transcript				cell cortex	ATP binding	ENSG00000196604	g.chr2:130877687G>C	33905			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=POTEF_HUMAN&rb=40&re=142&var=H134Q	NA	getma.org/?cm=var&var=hg19,2,130877687,G,C&fts=all	H134Q	--	--	1																																			0,1,1,1	1		benign(0.324)	p.H134Q	NM_001099771	NP_001093241		deleterious_low_confidence(0)	0,1,1,1	POTEF_HUMAN	POTEF	HGNC	A5A3E0	POTEF_HUMAN					3	802	-			UPI0000418FEA	134					SNV	POTEF,missense_variant,p.His134Gln,ENST00000357462,;POTEF,missense_variant,p.His134Gln,ENST00000409914,NM_001099771.2;POTEF,missense_variant,p.His134Gln,ENST00000361163,;POTEF,missense_variant,p.His134Gln,ENST00000360967,;	uc010fmh.2	c.402C>G	496/4031	3	3			c.402C>G						2	SNP	c.(400-402)CAC>CAG	52	52			skin(3)|ovary(2)	5	Broad	prostate, ovary, testis expressed protein on			130877687		0.592	ENSG00000196604	12067	g.chr2:130877687G>C		cell cortex	ATP binding							90.620599	KEEP	18	23	-1	88	76	18	23	-1	103.596789	88	76	0.202532	1	0	0	0	0	1	0	0	0	--	--		0	C				46	GBM-06-0209-TP	p.H134Q	G	CTCCACGGACGTGGTACCTGG	NM_001099771	NP_001093241	130877687	A5A3E0	POTEF_HUMAN	0			3	802	-	C	C			Missense_Mutation	134						
POTEF	728378	broad.mit.edu	GRCh37	2	130877735	130877735	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2557-01	TCGA-06-2557-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357462.5:c.354C>T	p.Gly118=	p.G118=	ENST00000357462		118	ggC/ggT	0			1			A	G	uc010fmh.2	protein_coding	YES	CCDS46409.1			354/3228									skin(3)|ovary(2)	5	c.(352-354)GGC>GGT			hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF46	prostate, ovary, testis expressed protein on				ENSP00000350052		15-Jan	8.24E-06		8.65E-05						rs747331658,COSM3406856,COSM3406855,COSM3406857	15-Jan	.		ENST00000357462	Transcript				cell cortex	ATP binding	ENSG00000196604	g.chr2:130877735G>A	33905			LOW								--	--	1																																			0,1,1,1	1			p.G118G	NM_001099771	NP_001093241			0,1,1,1	POTEF_HUMAN	POTEF	HGNC	A5A3E0	POTEF_HUMAN					3	754	-			UPI0000418FEA	118					SNV	POTEF,synonymous_variant,p.=,ENST00000357462,;POTEF,synonymous_variant,p.=,ENST00000409914,NM_001099771.2;POTEF,synonymous_variant,p.=,ENST00000361163,;POTEF,synonymous_variant,p.=,ENST00000360967,;	uc010fmh.2	c.354C>T	448/4031	1	1			c.354C>T						2	SNP	c.(352-354)GGC>GGT	56	56			skin(3)|ovary(2)	5	Broad	prostate, ovary, testis expressed protein on			130877735		0.587	ENSG00000196604	12067	g.chr2:130877735G>A		cell cortex	ATP binding							103.45003	KEEP	23	29	-1	53	69	23	29	-1	105.245454	53	69	0.359223	1	0	0	0	0	0	0	1	0	--	--		0	A				81	GBM-06-2557-TP	p.G118G	G	CTCCCCAAGCGCCCACCTTGC	NM_001099771	NP_001093241	130877735	A5A3E0	POTEF_HUMAN	0			3	754	-	A	A			Silent	118						
POTEF	0	broad.mit.edu	GRCh37	2	130877801	130877801	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-16-1045-01	TCGA-16-1045-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357462.5:c.288C>A	p.Asn96Lys	p.N96K	ENST00000357462		96	aaC/aaA	0			1			T	N/K	uc010fmh.2	protein_coding	YES	CCDS46409.1			288/3228									skin(3)|ovary(2)	5	c.(286-288)AAC>AAA			hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF46	prostate, ovary, testis expressed protein on				ENSP00000350052		15-Jan	8.24E-06					1.50E-05			rs759001401,COSM3406859,COSM3406858,COSM3406860	15-Jan	.		ENST00000357462	Transcript				cell cortex	ATP binding	ENSG00000196604	g.chr2:130877801G>T	33905			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=POTEF_HUMAN&rb=40&re=142&var=N96K	NA	getma.org/?cm=var&var=hg19,2,130877801,G,T&fts=all	N96K	--	--	1																																			0,1,1,1	1		benign(0.009)	p.N96K	NM_001099771	NP_001093241		deleterious_low_confidence(0.01)	0,1,1,1	POTEF_HUMAN	POTEF	HGNC	A5A3E0	POTEF_HUMAN					3	688	-			UPI0000418FEA	96					SNV	POTEF,missense_variant,p.Asn96Lys,ENST00000357462,;POTEF,missense_variant,p.Asn96Lys,ENST00000409914,NM_001099771.2;POTEF,missense_variant,p.Asn96Lys,ENST00000361163,;POTEF,missense_variant,p.Asn96Lys,ENST00000360967,;	uc010fmh.2	c.288C>A	382/4031	2	2			c.288C>A						2	SNP	c.(286-288)AAC>AAA	33	33			skin(3)|ovary(2)	5	Broad	prostate, ovary, testis expressed protein on			130877801		0.612	ENSG00000196604	12067	g.chr2:130877801G>T		cell cortex	ATP binding							-20.344736	KEEP	13	16	0.448275862	206	207	13	16	0.448275862	40.609784	206	207	0.059801	1	0	0	0	0	1	0	0	0	--	--		0	T				157	GBM-16-1045-TP	p.N96K	G	TGCCCATCTTGTTCCTGAGTG	NM_001099771	NP_001093241	130877801	A5A3E0	POTEF_HUMAN	0			3	688	-	T	T			Missense_Mutation	96						
POTEF	0	broad.mit.edu	GRCh37	2	130877830	130877830	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357462.5:c.259G>A	p.Asp87Asn	p.D87N	ENST00000357462		87	Gac/Aac	0			1			T	D/N	uc010fmh.2	protein_coding	YES	CCDS46409.1			259/3228									skin(3)|ovary(2)	5	c.(259-261)GAC>AAC			hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF46	prostate, ovary, testis expressed protein on				ENSP00000350052		15-Jan	9.06E-05			0.00104		3.03E-05			rs775445165,COSM3114073,COSM3114072,COSM3406864	15-Jan	common_variant		ENST00000357462	Transcript				cell cortex	ATP binding	ENSG00000196604	g.chr2:130877830C>T	33905			MODERATE		1.895	low	getma.org/?cm=msa&ty=f&p=POTEF_HUMAN&rb=40&re=142&var=D87N	NA	getma.org/?cm=var&var=hg19,2,130877830,C,T&fts=all	D87N	--	--	1																																			0,1,1,1	1		benign(0.358)	p.D87N	NM_001099771	NP_001093241		deleterious_low_confidence(0.04)	0,1,1,1	POTEF_HUMAN	POTEF	HGNC	A5A3E0	POTEF_HUMAN					3	659	-			UPI0000418FEA	87					SNV	POTEF,missense_variant,p.Asp87Asn,ENST00000357462,;POTEF,missense_variant,p.Asp87Asn,ENST00000409914,NM_001099771.2;POTEF,missense_variant,p.Asp87Asn,ENST00000361163,;POTEF,missense_variant,p.Asp87Asn,ENST00000360967,;	uc010fmh.2	c.259G>A	353/4031	2	2			c.259G>A						2	SNP	c.(259-261)GAC>AAC	36	36			skin(3)|ovary(2)	5	Broad	prostate, ovary, testis expressed protein on			130877830		0.602	ENSG00000196604	12067	g.chr2:130877830C>T		cell cortex	ATP binding							-27.9549	KEEP	20	12	-1	190	225	20	12	-1	45.476249	190	225	0.06044	1	0	0	0	0	1	0	0	0	--	--		0	T				246	GBM-32-4211-TP	p.D87N	C	GCAGAGTCGTCGTGGTCTCCA	NM_001099771	NP_001093241	130877830	A5A3E0	POTEF_HUMAN	0			3	659	-	T	T			Missense_Mutation	87						
POTEF	728378		GRCh37	2	130878084	130878084	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000357462.5:c.5T>G	p.Val2Gly	p.V2G	ENST00000357462		2	gTg/gGg	0																																																																																																																																																																																																																																												
POTEG	404785	broad.mit.edu	GRCh37	14	19553823	19553823	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01	TCGA-06-0122-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409832.3:c.407G>A	p.Arg136His	p.R136H	ENST00000409832	NM_001005356.2	136	cGt/cAt	0			1			A	R/H	uc001vuz.1	nonsense_mediated_decay					407/1461								p.R136H(1)	ovary(1)	1	c.(406-408)CGT>CAT			hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	POTE ankyrin domain family, member G				ENSP00000448062		12-Jan	0.000151	0.00033				0.000201		6.13E-05	rs768767599,COSM72253	12-Jan	.		ENST00000547889	Transcript						ENSG00000222036	g.chr14:19553823G>A	33896			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=POTEG_HUMAN&rb=40&re=142&var=R136H	NA	getma.org/?cm=var&var=hg19,14,19553823,G,A&fts=all	R136H	--	--	1																																		POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	0,1			benign(0.001)	p.R136H	NM_001005356	NP_001005356		tolerated(0.12)	0,1	POTEG_HUMAN	POTEG	HGNC	Q6S5H5	POTEG_HUMAN					1	459	+			UPI00015DFD28	136					SNV	POTEG,missense_variant,p.Arg136His,ENST00000409832,NM_001005356.2;POTEG,missense_variant,p.Arg136His,ENST00000552966,;POTEG,missense_variant,p.Arg136His,ENST00000547889,;	uc001vuz.1	c.407G>A	459/1975	1	1			c.407G>A						14	SNP	c.(406-408)CGT>CAT	64	64		p.R136H(1)	ovary(1)	1	Broad	POTE ankyrin domain family, member G			19553823		0.577	ENSG00000222036	12068	g.chr14:19553823G>A										22.552188	KEEP	26	32	-1	198	250	26	32	-1	60.386439	198	250	0.108434	1	0	0	0	0	1	0	0	0	--	--		0	A			POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	10	GBM-06-0122-TP	p.R136H	G	TACCACGTCCGTCGAGAAGAT	NM_001005356	NP_001005356	19553823	Q6S5H5	POTEG_HUMAN	0			1	459	+	A	A			Missense_Mutation	136						
POTEG	404785	broad.mit.edu	GRCh37	14	19553826	19553826	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01	TCGA-06-2564-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409832.3:c.410G>A	p.Arg137Gln	p.R137Q	ENST00000409832	NM_001005356.2	137	cGa/cAa	0			1			A	R/Q	uc001vuz.1	nonsense_mediated_decay					410/1461									ovary(1)	1	c.(409-411)CGA>CAA			hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	POTE ankyrin domain family, member G				ENSP00000448062		12-Jan	1.88E-05					3.52E-05			rs770223421,COSM1514716	12-Jan	.		ENST00000547889	Transcript						ENSG00000222036	g.chr14:19553826G>A	33896			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=POTEG_HUMAN&rb=40&re=142&var=R137Q	NA	getma.org/?cm=var&var=hg19,14,19553826,G,A&fts=all	R137Q	--	--	1																																		POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	0,1			benign(0.188)	p.R137Q	NM_001005356	NP_001005356		tolerated(0.57)	0,1	POTEG_HUMAN	POTEG	HGNC	Q6S5H5	POTEG_HUMAN					1	462	+			UPI00015DFD28	137					SNV	POTEG,missense_variant,p.Arg137Gln,ENST00000409832,NM_001005356.2;POTEG,missense_variant,p.Arg137Gln,ENST00000552966,;POTEG,missense_variant,p.Arg137Gln,ENST00000547889,;	uc001vuz.1	c.410G>A	462/1975	1	1			c.410G>A						14	SNP	c.(409-411)CGA>CAA	62	62			ovary(1)	1	Broad	POTE ankyrin domain family, member G			19553826		0.577	ENSG00000222036	12068	g.chr14:19553826G>A										-10.58039	KEEP	35	23	-1	486	453	35	23	-1	71.507824	486	453	0.074661	1	0	0	0	0	1	0	0	0	--	--		0	A			POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	87	GBM-06-2564-TP	p.R137Q	G	CACGTCCGTCGAGAAGATCTG	NM_001005356	NP_001005356	19553826	Q6S5H5	POTEG_HUMAN	0			1	462	+	A	A			Missense_Mutation	137						
POTEG	404785	broad.mit.edu	GRCh37	14	19566050	19566050	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-2570-01	TCGA-06-2570-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409832.3:c.1094T>C	p.Met365Thr	p.M365T	ENST00000409832	NM_001005356.2	365	aTg/aCg	0			1			C	M/T	uc001vuz.1	nonsense_mediated_decay					1094/1461									ovary(1)	1	c.(1093-1095)ATG>ACG			hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43,SMART_domains:SM00248	POTE ankyrin domain family, member G				ENSP00000448062		12-Jun	6.60E-05	0.000395	0.000175			1.51E-05			rs761793828,COSM3401180	12-Jun	.		ENST00000547889	Transcript						ENSG00000222036	g.chr14:19566050T>C	33896			MODERATE		-0.695	neutral	getma.org/?cm=msa&ty=f&p=POTEG_HUMAN&rb=281&re=368&var=M365T	NA	getma.org/?cm=var&var=hg19,14,19566050,T,C&fts=all	M365T	--	--	1																																		POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA|uc001vvb.2_Intron	0,1			possibly_damaging(0.542)	p.M365T	NM_001005356	NP_001005356		tolerated(0.13)	0,1	POTEG_HUMAN	POTEG	HGNC	Q6S5H5	POTEG_HUMAN					6	1146	+			UPI00015DFD28	365	M -> I (in Ref. 1; AAS58868).				SNV	POTEG,missense_variant,p.Met365Thr,ENST00000409832,NM_001005356.2;CTD-2311B13.5,intron_variant,,ENST00000548748,;RNU6-1239P,downstream_gene_variant,,ENST00000391310,;POTEG,missense_variant,p.Met365Thr,ENST00000547889,;POTEG,3_prime_UTR_variant,,ENST00000552966,;	uc001vuz.1	c.1094T>C	1146/1975	3	3			c.1094T>C						14	SNP	c.(1093-1095)ATG>ACG	64	64			ovary(1)	1	Broad	POTE ankyrin domain family, member G			19566050		0.229	ENSG00000222036	12068	g.chr14:19566050T>C										-27.662907	KEEP	3	7	-1	109	119	3	7	-1	17.173817	109	119	0.040609	1	0	0	0	0	1	0	0	0	--	--		0	C			POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA|uc001vvb.2_Intron	91	GBM-06-2570-TP	p.M365T	T	GAAAAACAGATGCTAAAAGTC	NM_001005356	NP_001005356	19566050	Q6S5H5	POTEG_HUMAN	0			6	1146	+	C	C			Missense_Mutation	365	M -> I (in Ref. 1; AAS58868).					
POTEG	0	broad.mit.edu	GRCh37	14	19553823	19553823	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01	TCGA-32-1977-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000547889.1:c.407G>A	p.Arg136His	p.R136H	ENST00000547889		136	cGt/cAt	0			1			A	R/H	uc001vuz.1	nonsense_mediated_decay					407/1461								p.R136H(1)	ovary(1)	1	c.(406-408)CGT>CAT			hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	POTE ankyrin domain family, member G				ENSP00000448062		12-Jan	0.000151	0.00033				0.000201		6.13E-05	rs768767599,COSM72253	12-Jan	.		ENST00000547889	Transcript						ENSG00000222036	g.chr14:19553823G>A	33896			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=POTEG_HUMAN&rb=40&re=142&var=R136H	NA	getma.org/?cm=var&var=hg19,14,19553823,G,A&fts=all	R136H	--	--	1																																		POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	0,1			benign(0.001)	p.R136H	NM_001005356	NP_001005356		tolerated(0.12)	0,1	POTEG_HUMAN	POTEG	HGNC	Q6S5H5	POTEG_HUMAN					1	459	+			UPI00015DFD28	136					SNV	POTEG,missense_variant,p.Arg136His,ENST00000409832,NM_001005356.2;POTEG,missense_variant,p.Arg136His,ENST00000552966,;POTEG,missense_variant,p.Arg136His,ENST00000547889,;	uc001vuz.1	c.407G>A	459/1975	1	1			c.407G>A						14	SNP	c.(406-408)CGT>CAT	64	64		p.R136H(1)	ovary(1)	1	Broad	POTE ankyrin domain family, member G			19553823		0.577	ENSG00000222036	12068	g.chr14:19553823G>A										7.917939	KEEP	20	25	-1	313	293	20	25	-1	60.728739	313	293	0.092063	1	0	0	0	0	1	0	0	0	--	--		0	A			POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	229	GBM-32-1977-TP	p.R136H	G	TACCACGTCCGTCGAGAAGAT	NM_001005356	NP_001005356	19553823	Q6S5H5	POTEG_HUMAN	0			1	459	+	A	A			Missense_Mutation	136						
POTEH	23784	broad.mit.edu	GRCh37	22	16287511	16287511	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0128-01	TCGA-06-0128-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343518.6:c.375C>T	p.Asp125=	p.D125=	ENST00000343518	NM_001136213.1	125	gaC/gaT	0			1			A	D	uc010gqp.2	protein_coding	YES	CCDS46658.1			375/1638									skin(1)	1	c.(373-375)GAC>GAT			hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43	ANKRD26-like family C, member 3				ENSP00000340610		11-Jan									COSM393493	11-Jan	.		ENST00000343518	Transcript						ENSG00000198062	g.chr22:16287511G>A	133			LOW								--	--	1																																		POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_Intron	1	1			p.D125D	NM_001136213	NP_001129685			1	POTEH_HUMAN	POTEH	HGNC	Q6S545	POTEH_HUMAN					1	427	-			UPI0000E5A425	125					SNV	POTEH,synonymous_variant,p.=,ENST00000343518,NM_001136213.1;POTEH,synonymous_variant,p.=,ENST00000452800,;	uc010gqp.2	c.375C>T	427/1928	1	1			c.375C>T						22	SNP	c.(373-375)GAC>GAT	56	56			skin(1)	1	Broad	ANKRD26-like family C, member 3			16287511		0.612	ENSG00000198062	12069	g.chr22:16287511G>A										-122.324052	KEEP	4	6	-1	397	383	4	6	-1	11.234147	397	383	0.015905	1	0	0	0	0	0	0	1	0	--	--		0	A			POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_Intron	14	GBM-06-0128-TP	p.D125D	G	TCATAGCAGAGTCGTCGTGGT	NM_001136213	NP_001129685	16287511	Q6S545	POTEH_HUMAN	0			1	427	-	A	A			Silent	125						
POTEH	0	broad.mit.edu	GRCh37	22	16287657	16287657	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-27-2524-01	TCGA-27-2524-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343518.6:c.229A>G	p.Lys77Glu	p.K77E	ENST00000343518	NM_001136213.1	77	Aag/Gag	0			1			C	K/E	uc010gqp.2	protein_coding	YES	CCDS46658.1			229/1638									skin(1)	1	c.(229-231)AAG>GAG			hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43	ANKRD26-like family C, member 3				ENSP00000340610		11-Jan									COSM3405495	11-Jan	.		ENST00000343518	Transcript						ENSG00000198062	g.chr22:16287657T>C	133			MODERATE		1.175	low	getma.org/?cm=msa&ty=f&p=POTEH_HUMAN&rb=40&re=179&var=K77E	NA	getma.org/?cm=var&var=hg19,22,16287657,T,C&fts=all	K77E	--	--	1																																		POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	1	1		probably_damaging(0.991)	p.K77E	NM_001136213	NP_001129685		tolerated_low_confidence(0.15)	1	POTEH_HUMAN	POTEH	HGNC	Q6S545	POTEH_HUMAN					1	281	-			UPI0000E5A425	77					SNV	POTEH,missense_variant,p.Lys77Glu,ENST00000343518,NM_001136213.1;POTEH,missense_variant,p.Lys21Glu,ENST00000452800,;	uc010gqp.2	c.229A>G	281/1928	3	3			c.229A>G						22	SNP	c.(229-231)AAG>GAG	15	15			skin(1)	1	Broad	ANKRD26-like family C, member 3			16287657		0.587	ENSG00000198062	12069	g.chr22:16287657T>C										297.779058	KEEP	89	92	-1	382	412	89	92	-1	322.94805	382	412	0.256466	1	0	0	0	0	1	0	0	0	--	--		0	C			POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	202	GBM-27-2524-TP	p.K77E	T	ACGTTGCTCTTGCCGCTCCCC	NM_001136213	NP_001129685	16287657	Q6S545	POTEH_HUMAN	0			1	281	-	C	C			Missense_Mutation	77						
POTEH	0	broad.mit.edu	GRCh37	22	16279238	16279238	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-4928-01	TCGA-76-4928-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343518.6:c.985A>G	p.Ile329Val	p.I329V	ENST00000343518	NM_001136213.1	329	Atc/Gtc	0			1			C	I/V	uc010gqp.2	protein_coding	YES	CCDS46658.1			985/1638									skin(1)	1	c.(985-987)ATC>GTC			PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	ANKRD26-like family C, member 3				ENSP00000340610		11-Apr									COSM3405494	11-Apr	.		ENST00000343518	Transcript						ENSG00000198062	g.chr22:16279238T>C	133			MODERATE		0.635	neutral	getma.org/?cm=msa&ty=f&p=POTEH_HUMAN&rb=323&re=404&var=I329V	getma.org/pdb.php?prot=POTEH_HUMAN&from=323&to=404&var=I329V	getma.org/?cm=var&var=hg19,22,16279238,T,C&fts=all	I329V	--	--	1																																		POTEH_uc002zlg.1_RNA|POTEH_uc002zlh.1_Missense_Mutation_p.I48V|POTEH_uc002zlj.1_Missense_Mutation_p.I164V	1	1		probably_damaging(0.939)	p.I329V	NM_001136213	NP_001129685		tolerated(0.4)	1	POTEH_HUMAN	POTEH	HGNC	Q6S545	POTEH_HUMAN					4	1037	-			UPI0000E5A425	329			ANK 5.		SNV	POTEH,missense_variant,p.Ile329Val,ENST00000343518,NM_001136213.1;RNU6-816P,upstream_gene_variant,,ENST00000390914,;POTEH-AS1,downstream_gene_variant,,ENST00000422014,;POTEH,3_prime_UTR_variant,,ENST00000452800,;	uc010gqp.2	c.985A>G	1037/1928	4	4			c.985A>G						22	SNP	c.(985-987)ATC>GTC	35	35			skin(1)	1	Broad	ANKRD26-like family C, member 3			16279238		0.338	ENSG00000198062	12069	g.chr22:16279238T>C										-107.767826	KEEP	24	12	-1	526	438	24	12	-1	83.792003	526	438	0.04038	1	0	0	0	0	1	0	0	0	--	--		0	C			POTEH_uc002zlg.1_RNA|POTEH_uc002zlh.1_Missense_Mutation_p.I48V|POTEH_uc002zlj.1_Missense_Mutation_p.I164V	268	GBM-76-4928-TP	p.I329V	T	TTTTTCTTGATTAAAAATTTC	NM_001136213	NP_001129685	16279238	Q6S545	POTEH_HUMAN	0			4	1037	-	C	C			Missense_Mutation	329			ANK 5.			
POTEH	23784		GRCh37	22	16287770	16287770	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000343518.6:c.116G>A	p.Gly39Asp	p.G39D	ENST00000343518	NM_001136213.1	39	gGc/gAc	0																																																																																																																																																																																																																																												
POU1F1	5449	broad.mit.edu	GRCh37	3	87325559	87325559	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0744-01	TCGA-06-0744-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344265.3:c.54C>T	p.Asp18=	p.D18=	ENST00000344265	NM_001122757.1	18	gaC/gaT	0			1			A	D	uc003dqq.1	protein_coding		CCDS2919.1			54/876									central_nervous_system(1)|skin(1)	2	c.(52-54)GAC>GAT			hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF82	pituitary specific transcription factor 1				ENSP00000263781		6-Jan									COSM2151611,COSM2151610	6-Jan	.		ENST00000350375	Transcript	1		negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000064835	g.chr3:87325559G>A	9210			LOW								--	--	1																																		POU1F1_uc010hoj.1_Silent_p.D18D	1,1				p.D18D	NM_000306	NP_000297			1,1	PIT1_HUMAN	POU1F1	HGNC	P28069	PIT1_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)			1	179	-	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	UPI0000131B22	18					SNV	POU1F1,synonymous_variant,p.=,ENST00000350375,NM_000306.2;POU1F1,synonymous_variant,p.=,ENST00000344265,NM_001122757.1;POU1F1,synonymous_variant,p.=,ENST00000561167,;POU1F1,synonymous_variant,p.=,ENST00000560656,;	uc003dqq.1	c.54C>T	179/1491	1	1			c.54C>T						3	SNP	c.(52-54)GAC>GAT	56	56			central_nervous_system(1)|skin(1)	2	Broad	pituitary specific transcription factor 1			87325559		0.478	ENSG00000064835	12070	g.chr3:87325559G>A	negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							131.254105	KEEP	28	14	-1	22	13	28	14	-1	131.436924	22	13	0.552632	1	0	0	0	0	0	0	1	0	--	--		0	A			POU1F1_uc010hoj.1_Silent_p.D18D	66	GBM-06-0744-TP	p.D18D	G	TTGCAGAGGCGTCAGAATTCA	NM_000306	NP_000297	87325559	P28069	PIT1_HUMAN	0		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)	1	179	-	A	A	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	Silent	18						
POU2AF1	0	broad.mit.edu	GRCh37	11	111229596	111229596	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01	TCGA-19-5951-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393067.3:c.64G>A	p.Val22Ile	p.V22I	ENST00000393067	NM_006235.2	22	Gtc/Atc	0			1			T	V/I	uc001plg.3	protein_coding	YES	CCDS31675.1			64/771	T		BCL6		NHL				kidney(1)	1	c.(64-66)GTC>ATC			hmmpanther:PTHR15363:SF3,hmmpanther:PTHR15363,Pfam_domain:PF09310	POU class 2 associating factor 1				ENSP00000376786		5-Feb									COSM2156667	5-Feb	.		ENST00000393067	Transcript	1		humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	ENSG00000110777	g.chr11:111229596C>T	9211			MODERATE		2.005	medium	getma.org/?cm=msa&ty=f&p=OBF1_HUMAN&rb=1&re=256&var=V22I	getma.org/pdb.php?prot=OBF1_HUMAN&from=1&to=256&var=V22I	getma.org/?cm=var&var=hg19,11,111229596,C,T&fts=all	V22I	--	--	1																																			1	1		probably_damaging(0.997)	p.V22I	NM_006235	NP_006226		deleterious(0.01)	1	OBF1_HUMAN	POU2AF1	HGNC	Q16633	OBF1_HUMAN		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)			2	319	-		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)	UPI000011D77C	22					SNV	POU2AF1,missense_variant,p.Val22Ile,ENST00000393067,NM_006235.2;POU2AF1,missense_variant,p.Val24Ile,ENST00000531398,;POU2AF1,non_coding_transcript_exon_variant,,ENST00000525584,;POU2AF1,non_coding_transcript_exon_variant,,ENST00000525662,;POU2AF1,non_coding_transcript_exon_variant,,ENST00000530793,;POU2AF1,downstream_gene_variant,,ENST00000526535,;POU2AF1,downstream_gene_variant,,ENST00000525499,;	uc001plg.3	c.64G>A	579/3295	2	2			c.64G>A	T		BCL6		NHL	11	SNP	c.(64-66)GTC>ATC	35	35			kidney(1)	1	Broad	POU class 2 associating factor 1			111229596		0.627	ENSG00000110777	12071	g.chr11:111229596C>T	humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			95			95	53.592218	KEEP	11	12	-1	14	19	11	12	-1	53.774627	14	19	0.431818	1	0	0	0	0	1	0	0	0	--	--		0	T				171	GBM-19-5951-TP	p.V22I	C	TTCACACGGACGCCCTGGTAT	NM_006235	NP_006226	111229596	Q16633	OBF1_HUMAN	0		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)	2	319	-	T	T		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)	Missense_Mutation	22						
POU2F1	0	broad.mit.edu	GRCh37	1	167358969	167358969	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-4209-01	TCGA-32-4209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000541643.3:c.889C>G	p.Gln297Glu	p.Q297E	ENST00000541643		297	Caa/Gaa	0			1			G	Q/E	uc001gec.2	protein_coding					889/2232									central_nervous_system(2)|skin(2)|breast(1)	5	c.(889-891)CAA>GAA			Gene3D:1.10.260.40,Pfam_domain:PF00157,PROSITE_profiles:PS51179,hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF47,SMART_domains:SM00352,Superfamily_domains:SSF47413	POU class 2 homeobox 1				ENSP00000441285		17-Oct									COSM3399957,COSM3399956,COSM3399958	17-Oct	.		ENST00000541643	Transcript			negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000143190	g.chr1:167358969C>G	9212			MODERATE		1.485	low	getma.org/?cm=msa&ty=f&p=PO2F1_HUMAN&rb=280&re=354&var=Q297E	getma.org/pdb.php?prot=PO2F1_HUMAN&from=280&to=354&var=Q297E	getma.org/?cm=var&var=hg19,1,167358969,C,G&fts=all	Q297E	--	--	1																																		POU2F1_uc010plg.1_RNA|POU2F1_uc001ged.2_Missense_Mutation_p.Q295E|POU2F1_uc001gee.2_Missense_Mutation_p.Q297E|POU2F1_uc010plh.1_Missense_Mutation_p.Q234E|POU2F1_uc001gef.2_Missense_Mutation_p.Q309E|POU2F1_uc001geg.2_Missense_Mutation_p.Q195E	1,1,1			unknown(0)	p.Q297E	NM_002697	NP_002688		deleterious(0)	1,1,1	PO2F1_HUMAN	POU2F1	HGNC	P14859	PO2F1_HUMAN					10	1051	+			UPI0000131D73	297			POU-specific.		SNV	POU2F1,missense_variant,p.Gln309Glu,ENST00000367862,NM_001198783.1;POU2F1,missense_variant,p.Gln320Glu,ENST00000367866,NM_002697.3,NM_001198786.1;POU2F1,missense_variant,p.Gln297Glu,ENST00000541643,;POU2F1,missense_variant,p.Gln257Glu,ENST00000429375,;POU2F1,missense_variant,p.Gln297Glu,ENST00000420254,;POU2F1,missense_variant,p.Gln205Glu,ENST00000443275,;POU2F1,3_prime_UTR_variant,,ENST00000452019,;POU2F1,non_coding_transcript_exon_variant,,ENST00000367865,;POU2F1,non_coding_transcript_exon_variant,,ENST00000559648,;POU2F1,downstream_gene_variant,,ENST00000470928,;POU2F1,3_prime_UTR_variant,,ENST00000271411,;POU2F1,3_prime_UTR_variant,,ENST00000560232,;POU2F1,intron_variant,,ENST00000557874,;POU2F1,downstream_gene_variant,,ENST00000490100,;	uc001gec.2	c.889C>G	1051/2664	3	3			c.889C>G						1	SNP	c.(889-891)CAA>GAA	55	55			central_nervous_system(2)|skin(2)|breast(1)	5	Broad	POU class 2 homeobox 1			167358969		0.438	ENSG00000143190	12072	g.chr1:167358969C>G	negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							17.324198	KEEP	3	6	-1	36	37	3	6	-1	26.731979	36	37	0.128571	1	0	0	0	0	1	0	0	0	--	--		0	G			POU2F1_uc010plg.1_RNA|POU2F1_uc001ged.2_Missense_Mutation_p.Q295E|POU2F1_uc001gee.2_Missense_Mutation_p.Q297E|POU2F1_uc010plh.1_Missense_Mutation_p.Q234E|POU2F1_uc001gef.2_Missense_Mutation_p.Q309E|POU2F1_uc001geg.2_Missense_Mutation_p.Q195E	244	GBM-32-4209-TP	p.Q297E	C	GACCTTCAAACAAAGACGAAT	NM_002697	NP_002688	167358969	P14859	PO2F1_HUMAN	0			10	1051	+	G	G			Missense_Mutation	297			POU-specific.			
POU2F2	0	broad.mit.edu	GRCh37	19	42596347	42596347	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-12-0821-01	TCGA-12-0821-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000526816.2:c.1274C>G	p.Ala425Gly	p.A425G	ENST00000526816		425	gCt/gGt	0			1			C	A/G	uc002osp.2	protein_coding	YES	CCDS56095.1			1274/1440									ovary(1)|skin(1)	2	c.(1273-1275)GCT>GGT			Low_complexity_(Seg):seg,hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF46	POU domain, class 2, transcription factor 2				ENSP00000431603		13/14									COSM3286844,COSM3286843	13/14	.		ENST00000526816	Transcript			humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000028277	g.chr19:42596347G>C	9213			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=PO2F2_HUMAN&rb=355&re=479&var=A425G	NA	getma.org/?cm=var&var=hg19,19,42596347,G,C&fts=all	A425G	--	--	1																																		POU2F2_uc002osn.2_Missense_Mutation_p.A409G|POU2F2_uc002oso.2_Missense_Mutation_p.A198G|POU2F2_uc002osq.2_Intron|POU2F2_uc002osr.1_Missense_Mutation_p.A425G	1,1	1		benign(0.112)	p.A425G	NM_002698	NP_002689		tolerated_low_confidence(0.26)	1,1	PO2F2_HUMAN	POU2F2	HGNC	P09086	PO2F2_HUMAN			Q9UMJ4_HUMAN,Q9UMI6_HUMAN		13	1341	-		Prostate(69;0.059)	UPI0000186851	425					SNV	POU2F2,missense_variant,p.Ala409Gly,ENST00000389341,NM_002698.4,NM_001247994.1,NM_001207025.2;POU2F2,missense_variant,p.Ala425Gly,ENST00000342301,;POU2F2,missense_variant,p.Ala427Gly,ENST00000560804,;POU2F2,missense_variant,p.Ala409Gly,ENST00000533720,;POU2F2,missense_variant,p.Ala425Gly,ENST00000526816,;POU2F2,missense_variant,p.Ala431Gly,ENST00000560398,;POU2F2,missense_variant,p.Ala425Gly,ENST00000529952,NM_001207026.1;POU2F2,missense_variant,p.Ala370Gly,ENST00000560558,;POU2F2,intron_variant,,ENST00000529067,;POU2F2,intron_variant,,ENST00000533548,;POU2F2,downstream_gene_variant,,ENST00000528894,;POU2F2,downstream_gene_variant,,ENST00000598842,;POU2F2,downstream_gene_variant,,ENST00000526831,;POU2F2,3_prime_UTR_variant,,ENST00000534559,;	uc002osp.2	c.1274C>G	1290/1928	3	3			c.1274C>G						19	SNP	c.(1273-1275)GCT>GGT	64	64			ovary(1)|skin(1)	2	Broad	POU domain, class 2, transcription factor 2			42596347		0.532	ENSG00000028277	12073	g.chr19:42596347G>C	humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							5.826973	KEEP	11	3	-1	14	4	11	3	-1	7.003949	14	4	0.25	1	0	0	0	0	1	0	0	0	--	--		0	C			POU2F2_uc002osn.2_Missense_Mutation_p.A409G|POU2F2_uc002oso.2_Missense_Mutation_p.A198G|POU2F2_uc002osq.2_Intron|POU2F2_uc002osr.1_Missense_Mutation_p.A425G	123	GBM-12-0821-TP	p.A425G	G	ggggggcgcagccccgccccc	NM_002698	NP_002689	42596347	P09086	PO2F2_HUMAN	0			13	1341	-	C	C		Prostate(69;0.059)	Missense_Mutation	425						
POU2F2	5452		GRCh37	19	42596307	42596307	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000526816.2:c.1314A>C	p.Pro438=	p.P438=	ENST00000526816		438	ccA/ccC	0																																																																																																																																																																																																																																												
POU3F4	5456		GRCh37	X	82763915	82763915	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000373200.2:c.583G>C	p.Glu195Gln	p.E195Q	ENST00000373200	NM_000307.4	195	Gaa/Caa	0																																																																																																																																																																																																																																												
POU4F2	5458	broad.mit.edu	GRCh37	4	147561389	147561389	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0876-01	TCGA-06-0876-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281321.3:c.659C>T	p.Pro220Leu	p.P220L	ENST00000281321	NM_004575.2	220	cCg/cTg	0			1			T	P/L	uc003ikv.2	protein_coding	YES	CCDS34074.1			659/1230									breast(1)	1	c.(658-660)CCG>CTG			hmmpanther:PTHR11636:SF41,hmmpanther:PTHR11636	Brn3b POU domain transcription factor				ENSP00000281321		2-Feb									COSM3127051	2-Feb	.		ENST00000281321	Transcript			estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	ENSG00000151615	g.chr4:147561389C>T	9219			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=PO4F2_HUMAN&rb=79&re=249&var=P220L	NA	getma.org/?cm=var&var=hg19,4,147561389,C,T&fts=all	P220L	--	--	1																																			1	1		benign(0.028)	p.P220L	NM_004575	NP_004566		deleterious(0.01)	1	PO4F2_HUMAN	POU4F2	HGNC	Q12837	PO4F2_HUMAN					2	907	+	all_hematologic(180;0.151)		UPI000013DC6C	220					SNV	POU4F2,missense_variant,p.Pro220Leu,ENST00000281321,NM_004575.2;AC093887.1,downstream_gene_variant,,ENST00000584185,;	uc003ikv.2	c.659C>T	907/3144	2	2			c.659C>T						4	SNP	c.(658-660)CCG>CTG	43	43			breast(1)	1	Broad	Brn3b POU domain transcription factor			147561389		0.726	ENSG00000151615	12080	g.chr4:147561389C>T	estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription							25.265047	KEEP	4	5	-1	11	8	4	5	-1	26.058166	11	8	0.321429	1	0	0	0	0	1	0	0	0	--	--		0	T				72	GBM-06-0876-TP	p.P220L	C	GCTCACGCGCCGCACATGGCC	NM_004575	NP_004566	147561389	Q12837	PO4F2_HUMAN	0			2	907	+	T	T	all_hematologic(180;0.151)		Missense_Mutation	220						
POU4F2	0	broad.mit.edu	GRCh37	4	147561770	147561770	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2619-01	TCGA-19-2619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281321.3:c.1040G>A	p.Arg347His	p.R347H	ENST00000281321	NM_004575.2	347	cGc/cAc	0		A:0	1	A:0		A	R/H	uc003ikv.2	protein_coding	YES	CCDS34074.1			1040/1230									breast(1)	1	c.(1039-1041)CGC>CAC			PROSITE_profiles:PS50071,hmmpanther:PTHR11636:SF41,hmmpanther:PTHR11636,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689,Prints_domain:PR00028	Brn3b POU domain transcription factor		A:0		ENSP00000281321	A:0	2-Feb	1.65E-05							0.000122	rs564340231,COSM2156169	2-Feb	.		ENST00000281321	Transcript		A:0.0002	estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	ENSG00000151615	g.chr4:147561770G>A	9219			MODERATE		4.24	high	getma.org/?cm=msa&ty=f&p=PO4F2_HUMAN&rb=346&re=402&var=R347H	getma.org/pdb.php?prot=PO4F2_HUMAN&from=346&to=402&var=R347H	getma.org/?cm=var&var=hg19,4,147561770,G,A&fts=all	R347H	--	--	1																																			0,1	1		possibly_damaging(0.733)	p.R347H	NM_004575	NP_004566	A:0.001	deleterious(0)	0,1	PO4F2_HUMAN	POU4F2	HGNC	Q12837	PO4F2_HUMAN					2	1288	+	all_hematologic(180;0.151)		UPI000013DC6C	347			Homeobox.		SNV	POU4F2,missense_variant,p.Arg347His,ENST00000281321,NM_004575.2;AC093887.1,downstream_gene_variant,,ENST00000584185,;	uc003ikv.2	c.1040G>A	1288/3144	1	1			c.1040G>A						4	SNP	c.(1039-1041)CGC>CAC	61	61			breast(1)	1	Broad	Brn3b POU domain transcription factor			147561770		0.622	ENSG00000151615	12080	g.chr4:147561770G>A	estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription							245.910769	KEEP	45	46	-1	71	63	45	46	-1	247.318848	71	63	0.409091	1	0	0	0	0	1	0	0	0	--	--		0	A				161	GBM-19-2619-TP	p.R347H	G	GAGAAGAAGCGCAAGCGCACG	NM_004575	NP_004566	147561770	Q12837	PO4F2_HUMAN	0			2	1288	+	A	A	all_hematologic(180;0.151)		Missense_Mutation	347			Homeobox.			
POU4F2	5458		GRCh37	4	147561831	147561831	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000281321.3:c.1101G>T	p.Gln367His	p.Q367H	ENST00000281321	NM_004575.2	367	caG/caT	0																																																																																																																																																																																																																																												
POU4F3	0	broad.mit.edu	GRCh37	5	145719603	145719603	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-0786-01	TCGA-14-0786-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000230732.4:c.613C>A	p.Gln205Lys	p.Q205K	ENST00000230732	NM_002700.2	205	Cag/Aag	0			1			A	Q/K	uc003loa.2	protein_coding	YES	CCDS4281.1			613/1017										0	c.(613-615)CAG>AAG			PROSITE_profiles:PS51179,hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF43,PROSITE_patterns:PS00035,Pfam_domain:PF00157,Gene3D:1.10.260.40,SMART_domains:SM00352,Superfamily_domains:SSF47413,Prints_domain:PR00028	POU class 4 homeobox 3				ENSP00000230732		2-Feb									COSM3409969	2-Feb	.		ENST00000230732	Transcript	1		sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000091010	g.chr5:145719603C>A	9220			MODERATE		3.36	medium	getma.org/?cm=msa&ty=f&p=PO4F3_HUMAN&rb=179&re=256&var=Q205K	getma.org/pdb.php?prot=PO4F3_HUMAN&from=179&to=256&var=Q205K	getma.org/?cm=var&var=hg19,5,145719603,C,A&fts=all	Q205K	--	--	1																																			1	1		probably_damaging(1)	p.Q205K	NM_002700	NP_002691		deleterious(0)	1	PO4F3_HUMAN	POU4F3	HGNC	Q15319	PO4F3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)				2	702	+			UPI0000131D91	205			POU-specific.		SNV	POU4F3,missense_variant,p.Gln205Lys,ENST00000230732,NM_002700.2;RBM27,downstream_gene_variant,,ENST00000506502,;CTC-359M8.1,intron_variant,,ENST00000515598,;	uc003loa.2	c.613C>A	702/1182	2	2			c.613C>A						5	SNP	c.(613-615)CAG>AAG	22	22				0	Broad	POU class 4 homeobox 3			145719603		0.657	ENSG00000091010	12081	g.chr5:145719603C>A	sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							-9.971186	KEEP	2	2	0.5	42	43	2	2	0.5	8.051789	42	43	0.048193	1	0	0	0	0	1	0	0	0	--	--		0	A				134	GBM-14-0786-TP	p.Q205K	C	GGGGGTGACCCAGGCGGACGT	NM_002700	NP_002691	145719603	Q15319	PO4F3_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	702	+	A	A			Missense_Mutation	205			POU-specific.			
PPA2	0	broad.mit.edu	GRCh37	4	106317427	106317427	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-2571-01	TCGA-41-2571-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341695.5:c.848G>A	p.Cys283Tyr	p.C283Y	ENST00000341695	NM_176869.2	283	tGt/tAt	0			1			T	C/Y	uc003hxl.2	protein_coding	YES	CCDS3667.1			848/1005									pancreas(1)	1	c.(847-849)TGT>TAT			Gene3D:3.90.80.10,hmmpanther:PTHR10286,hmmpanther:PTHR10286:SF5,Superfamily_domains:SSF50324	inorganic pyrophosphatase 2 isoform 1 precursor				ENSP00000343885		12-Sep									COSM3408968,COSM3408969	12-Sep	.		ENST00000341695	Transcript			diphosphate metabolic process|tRNA aminoacylation for protein translation	mitochondrial matrix	inorganic diphosphatase activity|magnesium ion binding	ENSG00000138777	g.chr4:106317427C>T	28883			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=IPYR2_HUMAN&rb=278&re=334&var=C283Y	NA	getma.org/?cm=var&var=hg19,4,106317427,C,T&fts=all	C283Y	--	--	1																																		PPA2_uc003hxm.2_Missense_Mutation_p.C265Y|PPA2_uc003hxn.2_Missense_Mutation_p.C254Y|PPA2_uc003hxo.2_Missense_Mutation_p.C181Y|PPA2_uc003hxp.2_Missense_Mutation_p.C117Y|PPA2_uc003hxq.2_Missense_Mutation_p.C190Y|PPA2_uc003hxr.2_Missense_Mutation_p.C190Y	1,1	1		probably_damaging(0.931)	p.C283Y	NM_176869	NP_789845		tolerated(0.08)	1,1	IPYR2_HUMAN	PPA2	HGNC	Q9H2U2	IPYR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)	D6RGI1_HUMAN		9	868	-		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)	UPI000013D9E2	283					SNV	PPA2,missense_variant,p.Cys283Tyr,ENST00000341695,NM_176869.2;PPA2,missense_variant,p.Cys254Tyr,ENST00000348706,NM_006903.4;PPA2,missense_variant,p.Cys298Tyr,ENST00000357415,;PPA2,missense_variant,p.Cys265Tyr,ENST00000380004,;PPA2,missense_variant,p.Cys181Tyr,ENST00000432483,NM_176866.2;PPA2,missense_variant,p.Cys117Tyr,ENST00000354147,NM_176867.3;PPA2,intron_variant,,ENST00000515567,;PPA2,downstream_gene_variant,,ENST00000508518,;PPA2,downstream_gene_variant,,ENST00000510015,;PPA2,non_coding_transcript_exon_variant,,ENST00000503171,;PPA2,downstream_gene_variant,,ENST00000509426,;PPA2,3_prime_UTR_variant,,ENST00000509031,;PPA2,3_prime_UTR_variant,,ENST00000351450,;PPA2,non_coding_transcript_exon_variant,,ENST00000513605,;PPA2,downstream_gene_variant,,ENST00000514209,;	uc003hxl.2	c.848G>A	879/1684	2	2			c.848G>A						4	SNP	c.(847-849)TGT>TAT	41	41			pancreas(1)	1	Broad	inorganic pyrophosphatase 2 isoform 1 precursor			106317427		0.294	ENSG00000138777	12087	g.chr4:106317427C>T	diphosphate metabolic process|tRNA aminoacylation for protein translation	mitochondrial matrix	inorganic diphosphatase activity|magnesium ion binding							196.314982	KEEP	40	35	-1	65	69	40	35	-1	199.448958	65	69	0.363158	1	0	0	0	0	1	0	0	0	--	--		0	T			PPA2_uc003hxm.2_Missense_Mutation_p.C265Y|PPA2_uc003hxn.2_Missense_Mutation_p.C254Y|PPA2_uc003hxo.2_Missense_Mutation_p.C181Y|PPA2_uc003hxp.2_Missense_Mutation_p.C117Y|PPA2_uc003hxq.2_Missense_Mutation_p.C190Y|PPA2_uc003hxr.2_Missense_Mutation_p.C190Y	250	GBM-41-2571-TP	p.C283Y	C	TCCTCCATTACACTTCTTCAT	NM_176869	NP_789845	106317427	Q9H2U2	IPYR2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)	9	868	-	T	T		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)	Missense_Mutation	283						
PPAP2C			GRCh37	19	288137	288137	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000327790.3:c.150C>T	p.Asn50=	p.N50=	ENST00000327790	NM_177543.2	50	aaC/aaT	0																																																																																																																																																																																																																																												
PPARA	5465	broad.mit.edu	GRCh37	22	46594404	46594404	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01	TCGA-06-5414-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396000.2:c.124G>A	p.Gly42Ser	p.G42S	ENST00000396000		42	Ggc/Agc	0			1			A	G/S	uc003bgw.1	protein_coding		CCDS33669.1			124/1407									ovary(1)|central_nervous_system(1)	2	c.(124-126)GGC>AGC			Prints_domain:PR01289	peroxisome proliferative activated receptor,	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)			ENSP00000262735		8-Mar									COSM3405719	8-Mar	.		ENST00000262735	Transcript	1		fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding	ENSG00000186951	g.chr22:46594404G>A	9232			MODERATE		1.745	low	getma.org/?cm=msa&ty=f&p=PPARA_HUMAN&rb=1&re=99&var=G42S	NA	getma.org/?cm=var&var=hg19,22,46594404,G,A&fts=all	G42S	--	--	1																																		PPARA_uc003bgx.1_Missense_Mutation_p.G42S|PPARA_uc010hab.1_Missense_Mutation_p.G42S|PPARA_uc003bgy.1_RNA|PPARA_uc003bgz.1_RNA|PPARA_uc003bha.2_Missense_Mutation_p.G42S|PPARA_uc003bhb.1_Missense_Mutation_p.G42S|PPARA_uc010hac.1_5'UTR	1			benign(0.003)	p.G42S	NM_005036	NP_005027		tolerated_low_confidence(0.32)	1	PPARA_HUMAN	PPARA	HGNC	Q07869	PPARA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	F1D8S4_HUMAN,B0QYX2_HUMAN		4	390	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	UPI000000D8E0	42					SNV	PPARA,missense_variant,p.Gly42Ser,ENST00000396000,;PPARA,missense_variant,p.Gly42Ser,ENST00000407236,;PPARA,missense_variant,p.Gly42Ser,ENST00000262735,NM_005036.4,NM_001001928.2;PPARA,missense_variant,p.Gly42Ser,ENST00000402126,;PPARA,missense_variant,p.Gly42Ser,ENST00000434345,;PPARA,missense_variant,p.Gly42Ser,ENST00000420804,;PPARA,missense_variant,p.Gly42Ser,ENST00000415785,;PPARA,downstream_gene_variant,,ENST00000440343,;PPARA,downstream_gene_variant,,ENST00000481567,;PPARA,downstream_gene_variant,,ENST00000484619,;PPARA,non_coding_transcript_exon_variant,,ENST00000493286,;	uc003bgw.1	c.124G>A	306/9965	1	1			c.124G>A						22	SNP	c.(124-126)GGC>AGC	54	54			ovary(1)|central_nervous_system(1)	2	Broad	peroxisome proliferative activated receptor,		Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	46594404		0.527	ENSG00000186951	12097	g.chr22:46594404G>A	fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			164			164	163.097929	KEEP	28	32	-1	64	62	28	32	-1	167.984953	64	62	0.319527	1	0	0	0	0	1	0	0	0	--	--		0	A			PPARA_uc003bgx.1_Missense_Mutation_p.G42S|PPARA_uc010hab.1_Missense_Mutation_p.G42S|PPARA_uc003bgy.1_RNA|PPARA_uc003bgz.1_RNA|PPARA_uc003bha.2_Missense_Mutation_p.G42S|PPARA_uc003bhb.1_Missense_Mutation_p.G42S|PPARA_uc010hac.1_5'UTR	97	GBM-06-5414-TP	p.G42S	G	GCAATCCATCGGCGAGGATAG	NM_005036	NP_005027	46594404	Q07869	PPARA_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	4	390	+	A	A		Ovarian(80;0.00965)|all_neural(38;0.0416)	Missense_Mutation	42						
PPARG	5468	broad.mit.edu	GRCh37	3	12447429	12447429	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01	TCGA-06-0939-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000287820.6:c.668C>T	p.Ala223Val	p.A223V	ENST00000287820	NM_015869.4	223	gCg/gTg	0		T:0	1	T:0		T	A/V	uc003bwx.2	protein_coding	YES	CCDS2609.1			668/1518	T	Insulin resistance ; lipodystrophy|familial partial L;diabetes mellitus|insulin-resistantI|with acanthosis nigricans and hypertension	PAX8		follicular thyroid				ovary(1)|kidney(1)	2	c.(667-669)GCG>GTG			Prints_domain:PR01291,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF14	peroxisome proliferative activated receptor	Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	T:0.001		ENSP00000287820	T:0	7-May									rs573789959,COSM2152381	7-May	.		ENST00000287820	Transcript	1	T:0.0002	activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	ENSG00000132170	g.chr3:12447429C>T	9236			MODERATE		2.89	medium	getma.org/?cm=msa&ty=f&p=PPARG_HUMAN&rb=206&re=293&var=A223V	getma.org/pdb.php?prot=PPARG_HUMAN&from=206&to=293&var=A223V	getma.org/?cm=var&var=hg19,3,12447429,C,T&fts=all	A223V	--	--	1																																		PPARG_uc003bwr.2_Missense_Mutation_p.A195V|PPARG_uc003bws.2_Missense_Mutation_p.A195V|PPARG_uc003bwu.2_Missense_Mutation_p.A195V|PPARG_uc003bwv.2_Missense_Mutation_p.A195V|PPARG_uc010hea.1_RNA|PPARG_uc003bwq.1_Missense_Mutation_p.A195V|PPARG_uc003bwt.1_Missense_Mutation_p.A195V|PPARG_uc003bww.1_Missense_Mutation_p.A223V	0,1	1		possibly_damaging(0.587)	p.A223V	NM_015869	NP_056953	T:0	deleterious(0.03)	0,1	PPARG_HUMAN	PPARG	HGNC	P37231	PPARG_HUMAN			Q9UEF6_HUMAN,Q6L9M1_HUMAN,E9PFJ1_HUMAN,E7EUD1_HUMAN,E7EU07_HUMAN,D2KUA6_HUMAN		5	759	+			UPI0000055911	223			Interaction with FAM120B (By similarity).		SNV	PPARG,missense_variant,p.Ala201Val,ENST00000397026,;PPARG,missense_variant,p.Ala195Val,ENST00000397010,;PPARG,missense_variant,p.Ala195Val,ENST00000397012,NM_138711.3;PPARG,missense_variant,p.Ala195Val,ENST00000309576,NM_138712.3;PPARG,missense_variant,p.Ala223Val,ENST00000287820,NM_015869.4;PPARG,missense_variant,p.Ala195Val,ENST00000397015,NM_005037.5;PPARG,missense_variant,p.Ala195Val,ENST00000397000,;PPARG,missense_variant,p.Ala193Val,ENST00000539812,;PPARG,3_prime_UTR_variant,,ENST00000397023,;PPARG,3_prime_UTR_variant,,ENST00000396999,;PPARG,non_coding_transcript_exon_variant,,ENST00000477039,;PPARG,non_coding_transcript_exon_variant,,ENST00000497594,;	uc003bwx.2	c.668C>T	789/1850	2	2			c.668C>T	T	Insulin resistance ; lipodystrophy|familial partial L;diabetes mellitus|insulin-resistantI|with acanthosis nigricans and hypertension	PAX8		follicular thyroid	3	SNP	c.(667-669)GCG>GTG	42	42			ovary(1)|kidney(1)	2	Broad	peroxisome proliferative activated receptor		Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	12447429		0.512	ENSG00000132170	12099	g.chr3:12447429C>T	activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			191			191	87.914641	KEEP	23	23	-1	56	72	23	23	-1	94.630942	56	72	0.263158	1	0	0	0	0	1	0	0	0	--	--		0	T			PPARG_uc003bwr.2_Missense_Mutation_p.A195V|PPARG_uc003bws.2_Missense_Mutation_p.A195V|PPARG_uc003bwu.2_Missense_Mutation_p.A195V|PPARG_uc003bwv.2_Missense_Mutation_p.A195V|PPARG_uc010hea.1_RNA|PPARG_uc003bwq.1_Missense_Mutation_p.A195V|PPARG_uc003bwt.1_Missense_Mutation_p.A195V|PPARG_uc003bww.1_Missense_Mutation_p.A223V	78	GBM-06-0939-TP	p.A223V	C	AAGCTGTTGGCGGAGATCTCC	NM_015869	NP_056953	12447429	P37231	PPARG_HUMAN	0			5	759	+	T	T			Missense_Mutation	223			Interaction with FAM120B (By similarity).			
PPARGC1B	133522		GRCh37	5	149210432	149210432	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0240-01	TCGA-06-0240-01																				ENST00000309241.5:c.568C>T	p.Arg190Trp	p.R190W	ENST00000309241	NM_133263.3	190	Cgg/Tgg	0																																																																																																																																																																																																																																												
PPBP	0	broad.mit.edu	GRCh37	4	74853312	74853312	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-27-1831-01	TCGA-27-1831-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296028.3:c.206C>A	p.Thr69Asn	p.T69N	ENST00000296028	NM_002704.3	69	aCc/aAc	0			1			T	T/N	uc003hhj.2	protein_coding	YES	CCDS3563.1			206/387									ovary(2)|central_nervous_system(1)|skin(1)	4	c.(205-207)ACC>AAC			hmmpanther:PTHR10179,PROSITE_patterns:PS00471,Gene3D:2.40.50.40,Pfam_domain:PF00048,SMART_domains:SM00199,Superfamily_domains:SSF54117,Prints_domain:PR00436,Prints_domain:PR00437	pro-platelet basic protein precursor				ENSP00000296028		3-Feb									COSM3409481	3-Feb	.		ENST00000296028	Transcript			chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity	ENSG00000163736	g.chr4:74853312G>T	9240			MODERATE		1.14	low	getma.org/?cm=msa&ty=f&p=CXCL7_HUMAN&rb=56&re=121&var=T69N	getma.org/pdb.php?prot=CXCL7_HUMAN&from=56&to=121&var=T69N	getma.org/?cm=var&var=hg19,4,74853312,G,T&fts=all	T69N	--	--	1																																			1	1		possibly_damaging(0.894)	p.T69N	NM_002704	NP_002695		deleterious(0.02)	1	CXCL7_HUMAN	PPBP	HGNC	P02775	CXCL7_HUMAN	all cancers(17;0.00273)|Lung(101;0.196)		D3JV43_HUMAN,D3JV42_HUMAN,D3JV41_HUMAN		2	286	-	Breast(15;0.00136)		UPI00000012C5	69					SNV	PPBP,missense_variant,p.Thr69Asn,ENST00000296028,NM_002704.3;	uc003hhj.2	c.206C>A	300/715	1	1			c.206C>A						4	SNP	c.(205-207)ACC>AAC	3	3			ovary(2)|central_nervous_system(1)|skin(1)	4	Broad	pro-platelet basic protein precursor			74853312		0.363	ENSG00000163736	12103	g.chr4:74853312G>T	chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity							112.798451	KEEP	21	28	0.428571429	72	50	21	28	0.428571429	118.80128	72	50	0.284722	1	0	0	0	0	1	0	0	0	--	--		0	T				190	GBM-27-1831-TP	p.T69N	G	AATTCCAGAGGTTGTCTTTAT	NM_002704	NP_002695	74853312	P02775	CXCL7_HUMAN	0	all cancers(17;0.00273)|Lung(101;0.196)		2	286	-	T	T	Breast(15;0.00136)		Missense_Mutation	69						
PPDPF	79144	broad.mit.edu	GRCh37	20	62153045	62153045	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-6389-01	TCGA-06-6389-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370179.3:c.158A>C	p.His53Pro	p.H53P	ENST00000370179	NM_024299.2	53	cAt/cCt	0			1			C	H/P	uc002yff.2	protein_coding	YES	CCDS13523.1			158/345										0	c.(157-159)CAT>CCT			Pfam_domain:PF15060,Prints_domain:PR02071,hmmpanther:PTHR14572,hmmpanther:PTHR14572:SF0	pancreatic progenitor cell differentiation and				ENSP00000359198		4-Apr										4-Apr	.		ENST00000370179	Transcript			cell differentiation|multicellular organismal development			ENSG00000125534	g.chr20:62153045A>C	16142			MODERATE		2.57	medium	getma.org/?cm=msa&ty=f&p=PPDPF_HUMAN&rb=1&re=112&var=H53P	NA	getma.org/?cm=var&var=hg19,20,62153045,A,C&fts=all	H53P	--	--	1																																				1		benign(0.069)	p.H53P	NM_024299	NP_077275		tolerated(0.05)		PPDPF_HUMAN	PPDPF	HGNC	Q9H3Y8	PPDPF_HUMAN					4	298	+			UPI000003BBD7	53					SNV	PPDPF,missense_variant,p.His53Pro,ENST00000370179,NM_024299.2;PPDPF,missense_variant,p.His79Pro,ENST00000370177,;PPDPF,non_coding_transcript_exon_variant,,ENST00000473620,;PPDPF,downstream_gene_variant,,ENST00000464438,;	uc002yff.2	c.158A>C	354/868	4	4			c.158A>C						20	SNP	c.(157-159)CAT>CCT	36	36				0	Broad	pancreatic progenitor cell differentiation and			62153045		0.637	ENSG00000125534	12106	g.chr20:62153045A>C	cell differentiation|multicellular organismal development									-6.326874	KEEP	2	2	-1	34	40	2	2	-1	7.116733	34	40	0.048387	1	0	0	0	0	1	0	0	0	--	--		0	C				105	GBM-06-6389-TP	p.H53P	A	GACCCGGGTCATTGGTGGGCC	NM_024299	NP_077275	62153045	Q9H3Y8	PPDPF_HUMAN	0			4	298	+	C	C			Missense_Mutation	53						
PPEF1	0	broad.mit.edu	GRCh37	X	18845405	18845405	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361511.4:c.1762G>A	p.Val588Met	p.V588M	ENST00000361511	NM_006240.2	588	Gtg/Atg	0			1			A	V/M	uc004cyq.2	protein_coding	YES	CCDS14188.1			1762/1962										0	c.(1762-1764)GTG>ATG			Gene3D:1.10.238.10,Pfam_domain:PF13499,PIRSF_domain:PIRSF000912,PROSITE_patterns:PS00018,PROSITE_profiles:PS50222,hmmpanther:PTHR11668,hmmpanther:PTHR11668:SF197,SMART_domains:SM00054,Superfamily_domains:SSF47473	protein phosphatase with EF hand calcium-binding				ENSP00000354871		19/19	1.65E-05					2.09E-05			rs778812457,COSM2155264	19/19	.		ENST00000361511	Transcript			detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	ENSG00000086717	g.chrX:18845405G>A	9243			MODERATE		-1.525	neutral	getma.org/?cm=msa&ty=f&p=PPE1_HUMAN&rb=550&re=618&var=V588M	NA	getma.org/?cm=var&var=hg19,X,18845405,G,A&fts=all	V588M	--	--	1																																		PPEF1_uc004cyp.2_Missense_Mutation_p.V560M|PPEF1_uc004cyr.2_Missense_Mutation_p.V526M|PPEF1_uc004cys.2_Missense_Mutation_p.V588M|PPEF1_uc011mja.1_Missense_Mutation_p.V523M|PPEF1_uc011mjb.1_Missense_Mutation_p.V532M	0,1	1		benign(0.004)	p.V588M	NM_006240	NP_006231		tolerated(0.95)	0,1	PPE1_HUMAN	PPEF1	HGNC	O14829	PPE1_HUMAN			C9JY08_HUMAN,B7Z6R7_HUMAN,B7Z353_HUMAN		19	2243	+	Hepatocellular(33;0.183)		UPI0000001C4F	588			EF-hand 2.|1 (Potential).		SNV	PPEF1,missense_variant,p.Val588Met,ENST00000361511,NM_006240.2,NM_152224.1;PPEF1,missense_variant,p.Val535Met,ENST00000359763,;PPEF1,missense_variant,p.Val526Met,ENST00000349874,NM_152226.1;PPEF1,missense_variant,p.Val523Met,ENST00000544635,;PPEF1,missense_variant,p.Val50Met,ENST00000470157,;PPEF1,3_prime_UTR_variant,,ENST00000543630,;PPEF1,non_coding_transcript_exon_variant,,ENST00000379962,;	uc004cyq.2	c.1762G>A	2256/2890	2	2			c.1762G>A						23	SNP	c.(1762-1764)GTG>ATG	32	32				0	Broad	protein phosphatase with EF hand calcium-binding			18845405		0.418	ENSG00000086717	12107	g.chrX:18845405G>A	detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity							218.073047	KEEP	42	42	-1	75	75	42	42	-1	222.064726	75	75	0.353774	1	0	0	0	0	1	0	0	0	--	--		0	A			PPEF1_uc004cyp.2_Missense_Mutation_p.V560M|PPEF1_uc004cyr.2_Missense_Mutation_p.V526M|PPEF1_uc004cys.2_Missense_Mutation_p.V588M|PPEF1_uc011mja.1_Missense_Mutation_p.V523M|PPEF1_uc011mjb.1_Missense_Mutation_p.V532M	142	GBM-14-1034-TP	p.V588M	G	CCTGATCTCCGTGGAAGAATT	NM_006240	NP_006231	18845405	O14829	PPE1_HUMAN	0			19	2243	+	A	A	Hepatocellular(33;0.183)		Missense_Mutation	588			EF-hand 2.|1 (Potential).			
PPEF1	0	broad.mit.edu	GRCh37	X	18797156	18797156	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-27-1836-01	TCGA-27-1836-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361511.4:c.587A>T	p.Tyr196Phe	p.Y196F	ENST00000361511	NM_006240.2	196	tAt/tTt	0			1			T	Y/F	uc004cyq.2	protein_coding	YES	CCDS14188.1			587/1962										0	c.(586-588)TAT>TTT			Gene3D:3.60.21.10,Pfam_domain:PF00149,PIRSF_domain:PIRSF000912,Prints_domain:PR00114,hmmpanther:PTHR11668,hmmpanther:PTHR11668:SF197,SMART_domains:SM00156,Superfamily_domains:SSF56300	protein phosphatase with EF hand calcium-binding				ENSP00000354871		19-Oct									COSM3406213	19-Oct	.		ENST00000361511	Transcript			detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	ENSG00000086717	g.chrX:18797156A>T	9243			MODERATE		2.38	medium	getma.org/?cm=msa&ty=f&p=PPE1_HUMAN&rb=165&re=407&var=Y196F	getma.org/pdb.php?prot=PPE1_HUMAN&from=165&to=407&var=Y196F	getma.org/?cm=var&var=hg19,X,18797156,A,T&fts=all	Y196F	--	--	1																																		PPEF1_uc004cyp.2_Missense_Mutation_p.Y196F|PPEF1_uc004cyr.2_Missense_Mutation_p.Y196F|PPEF1_uc004cys.2_Missense_Mutation_p.Y196F|PPEF1_uc011mja.1_Missense_Mutation_p.Y131F|PPEF1_uc011mjb.1_Missense_Mutation_p.Y140F	1	1		probably_damaging(1)	p.Y196F	NM_006240	NP_006231		deleterious(0.02)	1	PPE1_HUMAN	PPEF1	HGNC	O14829	PPE1_HUMAN			C9JY08_HUMAN,B7Z6R7_HUMAN,B7Z353_HUMAN		10	1068	+	Hepatocellular(33;0.183)		UPI0000001C4F	196			Catalytic.		SNV	PPEF1,missense_variant,p.Tyr196Phe,ENST00000361511,NM_006240.2,NM_152224.1;PPEF1,missense_variant,p.Tyr143Phe,ENST00000359763,;PPEF1,missense_variant,p.Tyr196Phe,ENST00000349874,NM_152226.1;PPEF1,missense_variant,p.Tyr196Phe,ENST00000543630,;PPEF1,missense_variant,p.Tyr131Phe,ENST00000544635,;PPEF1,missense_variant,p.Tyr44Phe,ENST00000496075,;PPEF1,non_coding_transcript_exon_variant,,ENST00000379962,;	uc004cyq.2	c.587A>T	1081/2890	2	2			c.587A>T						23	SNP	c.(586-588)TAT>TTT	35	35				0	Broad	protein phosphatase with EF hand calcium-binding			18797156		0.408	ENSG00000086717	12107	g.chrX:18797156A>T	detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity							379.860451	KEEP	77	73	-1	208	185	77	73	-1	400.745146	208	185	0.279749	1	0	0	0	0	1	0	0	0	--	--		0	T			PPEF1_uc004cyp.2_Missense_Mutation_p.Y196F|PPEF1_uc004cyr.2_Missense_Mutation_p.Y196F|PPEF1_uc004cys.2_Missense_Mutation_p.Y196F|PPEF1_uc011mja.1_Missense_Mutation_p.Y131F|PPEF1_uc011mjb.1_Missense_Mutation_p.Y140F	195	GBM-27-1836-TP	p.Y196F	A	AGGAACCCGTATGTTTTTAAT	NM_006240	NP_006231	18797156	O14829	PPE1_HUMAN	0			10	1068	+	T	T	Hepatocellular(33;0.183)		Missense_Mutation	196			Catalytic.			
PPEF2	5470	broad.mit.edu	GRCh37	4	76793227	76793227	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0749-01	TCGA-06-0749-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286719.7:c.1600G>A	p.Val534Met	p.V534M	ENST00000286719	NM_006239.2	534	Gtg/Atg	0			1			T	V/M	uc003hix.2	protein_coding	YES	CCDS34013.1			1600/2262									ovary(2)|lung(1)|central_nervous_system(1)	4	c.(1600-1602)GTG>ATG			Superfamily_domains:SSF56300,PIRSF_domain:PIRSF000912,SMART_domains:SM00156,Gene3D:3.60.21.10,hmmpanther:PTHR11668,hmmpanther:PTHR11668:SF214	serine/threonine protein phosphatase with				ENSP00000286719		13/17	2.47E-05		8.64E-05	0.000231					rs763143738,COSM2151923	13/17	.		ENST00000286719	Transcript			detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	ENSG00000156194	g.chr4:76793227C>T	9244			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=PPE2_HUMAN&rb=493&re=655&var=V534M	getma.org/pdb.php?prot=PPE2_HUMAN&from=493&to=655&var=V534M	getma.org/?cm=var&var=hg19,4,76793227,C,T&fts=all	V534M	--	--	1																																		PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.V534M	0,1	1		benign(0.12)	p.V534M	NM_006239	NP_006230		deleterious(0.01)	0,1	PPE2_HUMAN	PPEF2	HGNC	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		E7EPQ9_HUMAN		13	1957	-			UPI0000163923	534			Catalytic.		SNV	PPEF2,missense_variant,p.Val534Met,ENST00000286719,NM_006239.2;PPEF2,3_prime_UTR_variant,,ENST00000511880,;	uc003hix.2	c.1600G>A	1957/3414	2	2			c.1600G>A						4	SNP	c.(1600-1602)GTG>ATG	45	45			ovary(2)|lung(1)|central_nervous_system(1)	4	Broad	serine/threonine protein phosphatase with			76793227		0.428	ENSG00000156194	12108	g.chr4:76793227C>T	detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	NSCLC(105;1359 1603 15961 44567 47947)			NSCLC(105;1359 1603 15961 44567 47947)			77.657069	KEEP	20	13	-1	72	44	20	13	-1	86.890588	72	44	0.227941	1	0	0	0	0	1	0	0	0	--	--		0	T			PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.V534M	69	GBM-06-0749-TP	p.V534M	C	TGATACTGCACAATATGTGGG	NM_006239	NP_006230	76793227	O14830	PPE2_HUMAN	0	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		13	1957	-	T	T			Missense_Mutation	534			Catalytic.			
PPEF2	0	broad.mit.edu	GRCh37	4	76811138	76811138	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1986-01	TCGA-32-1986-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286719.7:c.389C>T	p.Ala130Val	p.A130V	ENST00000286719	NM_006239.2	130	gCc/gTc	0			1			A	A/V	uc003hix.2	protein_coding	YES	CCDS34013.1			389/2262									ovary(2)|lung(1)|central_nervous_system(1)	4	c.(388-390)GCC>GTC			Superfamily_domains:SSF56300,PIRSF_domain:PIRSF000912,Gene3D:3.60.21.10,Pfam_domain:PF08321,hmmpanther:PTHR11668,hmmpanther:PTHR11668:SF214	serine/threonine protein phosphatase with				ENSP00000286719		17-May									COSM3409489	17-May	.		ENST00000286719	Transcript			detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	ENSG00000156194	g.chr4:76811138G>A	9244			MODERATE		2.3	medium	getma.org/?cm=msa&ty=f&p=PPE2_HUMAN&rb=79&re=166&var=A130V	NA	getma.org/?cm=var&var=hg19,4,76811138,G,A&fts=all	A130V	--	--	1																																		PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.A130V	1	1		probably_damaging(1)	p.A130V	NM_006239	NP_006230		deleterious(0.01)	1	PPE2_HUMAN	PPEF2	HGNC	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		E7EPQ9_HUMAN		5	746	-			UPI0000163923	130			Catalytic.		SNV	PPEF2,missense_variant,p.Ala130Val,ENST00000286719,NM_006239.2;PPEF2,non_coding_transcript_exon_variant,,ENST00000503352,;PPEF2,downstream_gene_variant,,ENST00000510607,;PPEF2,missense_variant,p.Ala130Val,ENST00000511880,;	uc003hix.2	c.389C>T	746/3414	1	1			c.389C>T						4	SNP	c.(388-390)GCC>GTC	62	62			ovary(2)|lung(1)|central_nervous_system(1)	4	Broad	serine/threonine protein phosphatase with			76811138		0.522	ENSG00000156194	12108	g.chr4:76811138G>A	detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	NSCLC(105;1359 1603 15961 44567 47947)			NSCLC(105;1359 1603 15961 44567 47947)			107.296464	KEEP	19	31	-1	87	88	19	31	-1	119.286246	87	88	0.235294	1	0	0	0	0	1	0	0	0	--	--		0	A			PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.A130V	233	GBM-32-1986-TP	p.A130V	G	TTCTACCAGGGCAGTTGCATG	NM_006239	NP_006230	76811138	O14830	PPE2_HUMAN	0	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		5	746	-	A	A			Missense_Mutation	130			Catalytic.			
PPFIA1	0	broad.mit.edu	GRCh37	11	70181755	70181755	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6191-01	TCGA-76-6191-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000253925.7:c.1383G>A	p.Arg461=	p.R461=	ENST00000253925	NM_003626.3	461	agG/agA	0	A:0.0007		1			A	R	uc001opo.2	protein_coding	YES	CCDS31627.1			1383/3609									lung(2)|ovary(1)	3	c.(1381-1383)AGG>AGA			hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF15	PTPRF interacting protein alpha 1 isoform b			A:0	ENSP00000253925		28-Nov	1.65E-05	0.000195							rs374923538	28-Nov	.		ENST00000253925	Transcript			cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	ENSG00000131626	g.chr11:70181755G>A	9245			LOW								--	--	1																																		PPFIA1_uc001opn.1_Silent_p.R461R|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA		1			p.R461R	NM_003626	NP_003617				LIPA1_HUMAN	PPFIA1	HGNC	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		E9PPF6_HUMAN,E9PID5_HUMAN,B3KVS8_HUMAN		11	1581	+			UPI0000072426	461			Potential.		SNV	PPFIA1,synonymous_variant,p.=,ENST00000253925,NM_003626.3;PPFIA1,synonymous_variant,p.=,ENST00000389547,NM_177423.2;PPFIA1,synonymous_variant,p.=,ENST00000530798,;AP000487.6,intron_variant,,ENST00000528607,;PPFIA1,non_coding_transcript_exon_variant,,ENST00000532443,;PPFIA1,downstream_gene_variant,,ENST00000530932,;PPFIA1,synonymous_variant,p.=,ENST00000532504,;PPFIA1,synonymous_variant,p.=,ENST00000526262,;PPFIA1,upstream_gene_variant,,ENST00000526369,;PPFIA1,downstream_gene_variant,,ENST00000525530,;	uc001opo.2	c.1383G>A	1598/5234	1	1			c.1383G>A						11	SNP	c.(1381-1383)AGG>AGA	61	61			lung(2)|ovary(1)	3	Broad	PTPRF interacting protein alpha 1 isoform b			70181755		0.403	ENSG00000131626	12109	g.chr11:70181755G>A	cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity							92.612739	KEEP	18	14	-1	22	25	18	14	-1	93.037172	22	25	0.418919	1	0	0	0	0	0	0	1	0	--	--		0	A			PPFIA1_uc001opn.1_Silent_p.R461R|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	274	GBM-76-6191-TP	p.R461R	G	CTAATGAGAGGCTTCAACTTC	NM_003626	NP_003617	70181755	Q13136	LIPA1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		11	1581	+	A	A			Silent	461			Potential.			
PPFIA2	8499	broad.mit.edu	GRCh37	12	81747072	81747072	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0173-01	TCGA-06-0173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000549396.1:c.1820G>T	p.Gly607Val	p.G607V	ENST00000549396	NM_003625.3	607	gGa/gTa	0			1			A	G/V	uc001szo.1	protein_coding	YES	CCDS55857.1			1820/3774								p.G607G(1)	ovary(3)|lung(2)|pancreas(1)	6	c.(1819-1821)GGA>GTA			hmmpanther:PTHR12587:SF6,hmmpanther:PTHR12587	PTPRF interacting protein alpha 2				ENSP00000450337		17/33									COSM3399132,COSM3399133	17/33	.		ENST00000549396	Transcript						ENSG00000139220	g.chr12:81747072C>A	9246			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=LIPA2_HUMAN&rb=472&re=671&var=G607V	NA	getma.org/?cm=var&var=hg19,12,81747072,C,A&fts=all	G607V	--	--	1																																		PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	1,1	1		benign(0.169)	p.G607V	NM_003625	NP_003616		deleterious(0.01)	1,1	LIPA2_HUMAN	PPFIA2	HGNC	B7Z663	B7Z663_HUMAN			H0YHK3_HUMAN,F8W1Y8_HUMAN,F8VU88_HUMAN		17	1981	-			UPI0000168655	533					SNV	PPFIA2,missense_variant,p.Gly607Val,ENST00000550584,NM_001220473.1;PPFIA2,missense_variant,p.Gly607Val,ENST00000549396,NM_003625.3,NM_001220476.1,NM_001282536.1;PPFIA2,missense_variant,p.Gly589Val,ENST00000549325,NM_001220474.1;PPFIA2,missense_variant,p.Gly607Val,ENST00000548586,;PPFIA2,missense_variant,p.Gly607Val,ENST00000552948,NM_001220475.1;PPFIA2,missense_variant,p.Gly533Val,ENST00000407050,NM_001220477.1;PPFIA2,missense_variant,p.Gly454Val,ENST00000550359,;PPFIA2,missense_variant,p.Gly508Val,ENST00000443686,NM_001220478.1;PPFIA2,missense_variant,p.Gly589Val,ENST00000333447,;PPFIA2,missense_variant,p.Gly174Val,ENST00000541570,NM_001220479.1;PPFIA2,missense_variant,p.Gly188Val,ENST00000553058,;PPFIA2,5_prime_UTR_variant,,ENST00000541017,NM_001220480.1;PPFIA2,downstream_gene_variant,,ENST00000548670,;PPFIA2,intron_variant,,ENST00000545296,;PPFIA2,upstream_gene_variant,,ENST00000549917,;PPFIA2,3_prime_UTR_variant,,ENST00000551461,;	uc001szo.1	c.1820G>T	1981/5363	1	1			c.1820G>T						12	SNP	c.(1819-1821)GGA>GTA	63	63		p.G607G(1)	ovary(3)|lung(2)|pancreas(1)	6	Broad	PTPRF interacting protein alpha 2			81747072		0.368	ENSG00000139220	12110	g.chr12:81747072C>A										106.822044	KEEP	24	20	0.454545455	44	28	24	20	0.454545455	107.994755	44	28	0.383838	1	0	0	0	0	1	0	0	0	--	--		0	A			PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	36	GBM-06-0173-TP	p.G607V	C	GCTTAGTACTCCAATCTGTTG	NM_003625	NP_003616	81747072	B7Z663	B7Z663_HUMAN	0			17	1981	-	A	A			Missense_Mutation	533						
PPFIA2	8499	broad.mit.edu	GRCh37	12	81688794	81688794	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0878-01	TCGA-06-0878-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000549396.1:c.2745G>A	p.Ala915=	p.A915=	ENST00000549396	NM_003625.3	915	gcG/gcA	0	T:0.0005	T:0.0008	1	T:0		T	A	uc001szo.1	protein_coding	YES	CCDS55857.1			2745/3774									ovary(3)|lung(2)|pancreas(1)	6	c.(2743-2745)GCG>GCA			PROSITE_profiles:PS50105,hmmpanther:PTHR12587:SF6,hmmpanther:PTHR12587,Gene3D:1.10.150.50,Pfam_domain:PF00536,SMART_domains:SM00454,Superfamily_domains:SSF47769	PTPRF interacting protein alpha 2		T:0	T:0.0001	ENSP00000450337	T:0	24/33	1.65E-05	0.000111				1.59E-05			rs376356533,COSM1178031,COSM3399131	24/33	.		ENST00000549396	Transcript		T:0.0002				ENSG00000139220	g.chr12:81688794C>T	9246			LOW								--	--	1																																		PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	0,1,1	1			p.A915A	NM_003625	NP_003616	T:0		0,1,1	LIPA2_HUMAN	PPFIA2	HGNC	B7Z663	B7Z663_HUMAN			H0YHK3_HUMAN,F8W1Y8_HUMAN,F8VU88_HUMAN		24	2906	-			UPI0000168655	841					SNV	PPFIA2,synonymous_variant,p.=,ENST00000550584,NM_001220473.1;PPFIA2,synonymous_variant,p.=,ENST00000549396,NM_003625.3,NM_001220476.1,NM_001282536.1;PPFIA2,synonymous_variant,p.=,ENST00000549325,NM_001220474.1;PPFIA2,synonymous_variant,p.=,ENST00000548586,;PPFIA2,synonymous_variant,p.=,ENST00000552948,NM_001220475.1;PPFIA2,synonymous_variant,p.=,ENST00000407050,NM_001220477.1;PPFIA2,synonymous_variant,p.=,ENST00000550359,;PPFIA2,synonymous_variant,p.=,ENST00000443686,NM_001220478.1;PPFIA2,synonymous_variant,p.=,ENST00000333447,;PPFIA2,synonymous_variant,p.=,ENST00000541570,NM_001220479.1;PPFIA2,synonymous_variant,p.=,ENST00000541017,NM_001220480.1;PPFIA2,synonymous_variant,p.=,ENST00000551147,;PPFIA2,synonymous_variant,p.=,ENST00000550018,;RP11-121G22.3,intron_variant,,ENST00000549161,;RP11-121G22.3,intron_variant,,ENST00000552534,;RP11-121G22.3,intron_variant,,ENST00000553197,;RP11-121G22.3,intron_variant,,ENST00000551401,;RP11-121G22.3,intron_variant,,ENST00000550938,;RP11-121G22.3,intron_variant,,ENST00000550302,;RP11-121G22.3,intron_variant,,ENST00000547762,;RP11-121G22.3,intron_variant,,ENST00000550999,;RP11-121G22.3,intron_variant,,ENST00000550138,;RP11-121G22.3,downstream_gene_variant,,ENST00000551699,;PPFIA2,intron_variant,,ENST00000545296,;PPFIA2,3_prime_UTR_variant,,ENST00000551461,;PPFIA2,non_coding_transcript_exon_variant,,ENST00000547180,;	uc001szo.1	c.2745G>A	2906/5363	2	2			c.2745G>A						12	SNP	c.(2743-2745)GCG>GCA	37	37			ovary(3)|lung(2)|pancreas(1)	6	Broad	PTPRF interacting protein alpha 2			81688794		0.353	ENSG00000139220	12110	g.chr12:81688794C>T										30.61262	KEEP	6	5	-1	12	16	6	5	-1	32.274543	12	16	0.282051	1	0	0	0	0	0	0	1	0	--	--		0	T			PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	74	GBM-06-0878-TP	p.A915A	C	CCACGTACCACGCAGGCATTC	NM_003625	NP_003616	81688794	B7Z663	B7Z663_HUMAN	0			24	2906	-	T	T			Silent	841						
PPFIA3	8541	broad.mit.edu	GRCh37	19	49633717	49633717	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0939-01	TCGA-06-0939-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334186.4:c.740C>G	p.Ala247Gly	p.A247G	ENST00000334186	NM_003660.3	247	gCc/gGc	0			1			G	A/G	uc002pmr.2	protein_coding	YES	CCDS12758.1			740/3585									lung(1)	1	c.(739-741)GCC>GGC			Low_complexity_(Seg):seg,hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF4	PTPRF interacting protein alpha 3				ENSP00000335614		30-Jul									COSM3404443	30-Jul	.		ENST00000334186	Transcript				cell surface|cytoplasm	protein binding	ENSG00000177380	g.chr19:49633717C>G	9247			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=LIPA3_HUMAN&rb=168&re=264&var=A247G	NA	getma.org/?cm=var&var=hg19,19,49633717,C,G&fts=all	A247G	--	--	1																																		PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_Missense_Mutation_p.A171G|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.A115G	1	1		benign(0.004)	p.A247G	NM_003660	NP_003651		tolerated(0.34)	1	LIPA3_HUMAN	PPFIA3	HGNC	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	R4GNF1_HUMAN		7	1072	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	UPI00001AE464	247			Potential.		SNV	PPFIA3,missense_variant,p.Ala247Gly,ENST00000334186,NM_003660.3;PPFIA3,missense_variant,p.Ala247Gly,ENST00000602351,;PPFIA3,downstream_gene_variant,,ENST00000602509,;PPFIA3,missense_variant,p.Ala247Gly,ENST00000602655,;PPFIA3,non_coding_transcript_exon_variant,,ENST00000421230,;PPFIA3,non_coding_transcript_exon_variant,,ENST00000602716,;PPFIA3,non_coding_transcript_exon_variant,,ENST00000602726,;PPFIA3,downstream_gene_variant,,ENST00000602492,;	uc002pmr.2	c.740C>G	1089/4733	3	3			c.740C>G						19	SNP	c.(739-741)GCC>GGC	4	4			lung(1)	1	Broad	PTPRF interacting protein alpha 3			49633717		0.692	ENSG00000177380	12111	g.chr19:49633717C>G		cell surface|cytoplasm	protein binding							1.034038	KEEP	0	2	-1	15	12	0	2	-1	6.326074	15	12	0.071429	1	0	0	0	0	1	0	0	0	--	--		0	G			PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_Missense_Mutation_p.A171G|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.A115G	78	GBM-06-0939-TP	p.A247G	C	CGGCAGCGCGCCGAGGTGTGC	NM_003660	NP_003651	49633717	O75145	LIPA3_HUMAN	0		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	7	1072	+	G	G		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	Missense_Mutation	247			Potential.			
PPFIA3	0	broad.mit.edu	GRCh37	19	49651354	49651354	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6193-01	TCGA-76-6193-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334186.4:c.2850C>T	p.Gly950=	p.G950=	ENST00000334186	NM_003660.3	950	ggC/ggT	0			1			T	G	uc002pmr.2	protein_coding	YES	CCDS12758.1			2850/3585									lung(1)	1	c.(2848-2850)GGC>GGT			hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF4,SMART_domains:SM00454	PTPRF interacting protein alpha 3				ENSP00000335614		24/30	8.24E-06	9.72E-05							rs765574283,COSM3404444	24/30	.		ENST00000334186	Transcript				cell surface|cytoplasm	protein binding	ENSG00000177380	g.chr19:49651354C>T	9247			LOW								--	--	1																																		PPFIA3_uc010yai.1_RNA|PPFIA3_uc002pms.2_Silent_p.G809G|PPFIA3_uc002pmt.2_Silent_p.G89G|PPFIA3_uc002pmu.1_5'UTR	0,1	1			p.G950G	NM_003660	NP_003651			0,1	LIPA3_HUMAN	PPFIA3	HGNC	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	R4GNF1_HUMAN		24	3182	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	UPI00001AE464	950					SNV	PPFIA3,synonymous_variant,p.=,ENST00000334186,NM_003660.3;PPFIA3,synonymous_variant,p.=,ENST00000602351,;PPFIA3,synonymous_variant,p.=,ENST00000602848,;HRC,downstream_gene_variant,,ENST00000252825,NM_002152.2;HRC,downstream_gene_variant,,ENST00000595625,;PPFIA3,upstream_gene_variant,,ENST00000602897,;HRC,downstream_gene_variant,,ENST00000598858,;PPFIA3,3_prime_UTR_variant,,ENST00000602655,;PPFIA3,upstream_gene_variant,,ENST00000602783,;PPFIA3,upstream_gene_variant,,ENST00000602905,;PPFIA3,downstream_gene_variant,,ENST00000602800,;HRC,downstream_gene_variant,,ENST00000595167,;	uc002pmr.2	c.2850C>T	3199/4733	2	2			c.2850C>T						19	SNP	c.(2848-2850)GGC>GGT	45	45			lung(1)	1	Broad	PTPRF interacting protein alpha 3			49651354		0.617	ENSG00000177380	12111	g.chr19:49651354C>T		cell surface|cytoplasm	protein binding							30.094745	KEEP	6	8	-1	18	27	6	8	-1	32.676765	18	27	0.26	1	0	0	0	0	0	0	1	0	--	--		0	T			PPFIA3_uc010yai.1_RNA|PPFIA3_uc002pms.2_Silent_p.G809G|PPFIA3_uc002pmt.2_Silent_p.G89G|PPFIA3_uc002pmu.1_5'UTR	276	GBM-76-6193-TP	p.G950G	C	TGGCATATGGCGACATGAACC	NM_003660	NP_003651	49651354	O75145	LIPA3_HUMAN	0		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	24	3182	+	T	T		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	Silent	950						
PPFIA4	0	broad.mit.edu	GRCh37	1	203029484	203029484	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01	TCGA-14-1825-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000447715.2:c.2657G>A	p.Arg886His	p.R886H	ENST00000447715		886	cGc/cAc	0	A:0		1			A	R/H	uc001gyz.2	protein_coding					2657/3558									ovary(4)|skin(1)	5	c.(1204-1206)CGC>CAC			PROSITE_profiles:PS50105,hmmpanther:PTHR12587:SF5,hmmpanther:PTHR12587,Gene3D:1.10.150.50,Pfam_domain:PF00536,SMART_domains:SM00454,Superfamily_domains:SSF47769	protein tyrosine phosphatase, receptor type, f			A:0.0001	ENSP00000402576		27/35	8.24E-06					1.50E-05			rs373538808,COSM3400218,COSM3400217	27/35	.		ENST00000447715	Transcript			cell communication	cell surface|cytoplasm	protein binding	ENSG00000143847	g.chr1:203029484G>A	9248			MODERATE		2.415	medium	getma.org/?cm=msa&ty=f&p=LIPA4_HUMAN&rb=343&re=408&var=R402H	getma.org/pdb.php?prot=LIPA4_HUMAN&from=343&to=408&var=R402H	getma.org/?cm=var&var=hg19,1,203029484,G,A&fts=all	R402H	--	--	1																																		PPFIA4_uc009xaj.2_Missense_Mutation_p.R1033H|PPFIA4_uc010pqf.1_Missense_Mutation_p.R615H|PPFIA4_uc001gza.2_Missense_Mutation_p.R402H|PPFIA4_uc001gzb.1_Missense_Mutation_p.R97H	0,1,1			probably_damaging(0.995)	p.R402H	NM_015053	NP_055868		deleterious(0)	0,1,1		PPFIA4	HGNC	O75335	LIPA4_HUMAN			B1N949_HUMAN		9	1798	+			UPI0001661778	402			SAM 1.		SNV	PPFIA4,missense_variant,p.Arg887His,ENST00000367240,;PPFIA4,missense_variant,p.Arg402His,ENST00000295706,;PPFIA4,missense_variant,p.Arg886His,ENST00000447715,;PPFIA4,missense_variant,p.Arg402His,ENST00000272198,NM_015053.1;PPFIA4,missense_variant,p.Arg402His,ENST00000599966,;PPFIA4,missense_variant,p.Arg654His,ENST00000600426,;PPFIA4,missense_variant,p.Arg615His,ENST00000414050,;PPFIA4,downstream_gene_variant,,ENST00000599514,;PPFIA4,upstream_gene_variant,,ENST00000486360,;PPFIA4,upstream_gene_variant,,ENST00000594656,;PPFIA4,downstream_gene_variant,,ENST00000600447,;	uc001gyz.2	c.1205G>A	3098/6349	1	1			c.1205G>A						1	SNP	c.(1204-1206)CGC>CAC	56	56			ovary(4)|skin(1)	5	Broad	protein tyrosine phosphatase, receptor type, f			203029484		0.612	ENSG00000143847	12112	g.chr1:203029484G>A	cell communication	cell surface|cytoplasm	protein binding							53.925768	KEEP	15	12	-1	59	57	15	12	-1	64.373731	59	57	0.2	1	0	0	0	0	1	0	0	0	--	--		0	A			PPFIA4_uc009xaj.2_Missense_Mutation_p.R1033H|PPFIA4_uc010pqf.1_Missense_Mutation_p.R615H|PPFIA4_uc001gza.2_Missense_Mutation_p.R402H|PPFIA4_uc001gzb.1_Missense_Mutation_p.R97H	148	GBM-14-1825-TP	p.R402H	G	CTCAAGCTCCGCCTGGCCATT	NM_015053	NP_055868	203029484	O75335	LIPA4_HUMAN	0			9	1798	+	A	A			Missense_Mutation	402			SAM 1.			
PPFIA4	8497		GRCh37	1	203014509	203014509	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000367240.2:c.680G>A	p.Arg227Gln	p.R227Q	ENST00000367240		227	cGg/cAg	0																																																																																																																																																																																																																																												
PPFIBP1	8496	broad.mit.edu	GRCh37	12	27809558	27809558	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01	TCGA-06-0155-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318304.8:c.799G>A	p.Ala267Thr	p.A267T	ENST00000318304	NM_177444.2	267	Gca/Aca	0			1			A	A/T	uc001ric.1	protein_coding	YES	CCDS55812.1			799/3036							PPFIBP1/ALK(3)		soft_tissue(3)|kidney(1)|skin(1)	5	c.(799-801)GCA>ACA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF16,Low_complexity_(Seg):seg	PTPRF interacting protein binding protein 1				ENSP00000314724		29-Oct	8.24E-06					1.51E-05			rs773186244,COSM2149954,COSM2149953	29-Oct	.		ENST00000318304	Transcript			cell adhesion	plasma membrane	protein binding	ENSG00000110841	g.chr12:27809558G>A	9249			MODERATE		1.75	low	getma.org/?cm=msa&ty=f&p=LIPB1_HUMAN&rb=1&re=289&var=A267T	NA	getma.org/?cm=var&var=hg19,12,27809558,G,A&fts=all	A267T	--	--	1																																		PPFIBP1_uc010sjr.1_Missense_Mutation_p.A95T|PPFIBP1_uc001rib.1_Missense_Mutation_p.A236T|PPFIBP1_uc001ria.2_Missense_Mutation_p.A236T|PPFIBP1_uc001rid.1_Missense_Mutation_p.A114T|PPFIBP1_uc001rie.1_5'Flank	0,1,1	1		benign(0.003)	p.A267T	NM_003622	NP_003613		tolerated(0.12)	0,1,1	LIPB1_HUMAN	PPFIBP1	HGNC	Q86W92	LIPB1_HUMAN			F5H6Q7_HUMAN		10	1176	+	Lung SC(9;0.0873)		UPI00004565E6	267			Potential.		SNV	PPFIBP1,missense_variant,p.Ala267Thr,ENST00000318304,NM_177444.2,NM_001198916.1;PPFIBP1,missense_variant,p.Ala236Thr,ENST00000228425,NM_003622.3;PPFIBP1,missense_variant,p.Ala114Thr,ENST00000537927,NM_001198915.1;PPFIBP1,missense_variant,p.Ala236Thr,ENST00000542629,;PPFIBP1,missense_variant,p.Ala95Thr,ENST00000540114,;PPFIBP1,upstream_gene_variant,,ENST00000537261,;PPFIBP1,missense_variant,p.Ala236Thr,ENST00000545381,;PPFIBP1,non_coding_transcript_exon_variant,,ENST00000534917,;	uc001ric.1	c.799G>A	1082/6001	1	1			c.799G>A						12	SNP	c.(799-801)GCA>ACA	64	64	PPFIBP1/ALK(3)		soft_tissue(3)|kidney(1)|skin(1)	5	Broad	PTPRF interacting protein binding protein 1			27809558		0.323	ENSG00000110841	12113	g.chr12:27809558G>A	cell adhesion	plasma membrane	protein binding							46.143769	KEEP	12	18	-1	43	35	12	18	-1	53.510809	43	35	0.210526	1	0	0	0	0	1	0	0	0	--	--		0	A			PPFIBP1_uc010sjr.1_Missense_Mutation_p.A95T|PPFIBP1_uc001rib.1_Missense_Mutation_p.A236T|PPFIBP1_uc001ria.2_Missense_Mutation_p.A236T|PPFIBP1_uc001rid.1_Missense_Mutation_p.A114T|PPFIBP1_uc001rie.1_5'Flank	27	GBM-06-0155-TP	p.A267T	G	GGATGAACTGGCATCTTTAAA	NM_003622	NP_003613	27809558	Q86W92	LIPB1_HUMAN	0			10	1176	+	A	A	Lung SC(9;0.0873)		Missense_Mutation	267			Potential.			
PPFIBP1	0	broad.mit.edu	GRCh37	12	27841316	27841316	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318304.8:c.2474C>T	p.Ala825Val	p.A825V	ENST00000318304	NM_177444.2	825	gCg/gTg	0			1			T	A/V	uc001ric.1	protein_coding	YES	CCDS55812.1			2474/3036							PPFIBP1/ALK(3)		soft_tissue(3)|kidney(1)|skin(1)	5	c.(2473-2475)GCG>GTG			Gene3D:1.10.150.50,Pfam_domain:PF07647,hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF16,SMART_domains:SM00454,Superfamily_domains:SSF47769	PTPRF interacting protein binding protein 1				ENSP00000314724		25/29									COSM3398643,COSM3398642	25/29	.		ENST00000318304	Transcript			cell adhesion	plasma membrane	protein binding	ENSG00000110841	g.chr12:27841316C>T	9249			MODERATE		3.01	medium	getma.org/?cm=msa&ty=f&p=LIPB1_HUMAN&rb=804&re=874&var=A825V	getma.org/pdb.php?prot=LIPB1_HUMAN&from=804&to=874&var=A825V	getma.org/?cm=var&var=hg19,12,27841316,C,T&fts=all	A825V	--	--	1																																		PPFIBP1_uc010sjr.1_Missense_Mutation_p.A656V|PPFIBP1_uc001rib.1_Missense_Mutation_p.A819V|PPFIBP1_uc001ria.2_Missense_Mutation_p.A794V|PPFIBP1_uc001rid.1_Missense_Mutation_p.A672V|PPFIBP1_uc001rif.1_Missense_Mutation_p.A332V	1,1	1		probably_damaging(0.999)	p.A825V	NM_003622	NP_003613		deleterious(0.04)	1,1	LIPB1_HUMAN	PPFIBP1	HGNC	Q86W92	LIPB1_HUMAN			F5H6Q7_HUMAN		25	2851	+	Lung SC(9;0.0873)		UPI00004565E6	825			SAM 3.		SNV	PPFIBP1,missense_variant,p.Ala825Val,ENST00000318304,NM_177444.2,NM_001198916.1;PPFIBP1,missense_variant,p.Ala819Val,ENST00000228425,NM_003622.3;PPFIBP1,missense_variant,p.Ala672Val,ENST00000537927,NM_001198915.1;PPFIBP1,missense_variant,p.Ala794Val,ENST00000542629,;PPFIBP1,missense_variant,p.Ala656Val,ENST00000540114,;PPFIBP1,missense_variant,p.Ala56Val,ENST00000539326,;PPFIBP1,non_coding_transcript_exon_variant,,ENST00000540256,;	uc001ric.1	c.2474C>T	2757/6001	2	2			c.2474C>T						12	SNP	c.(2473-2475)GCG>GTG	30	30	PPFIBP1/ALK(3)		soft_tissue(3)|kidney(1)|skin(1)	5	Broad	PTPRF interacting protein binding protein 1			27841316		0.473	ENSG00000110841	12113	g.chr12:27841316C>T	cell adhesion	plasma membrane	protein binding							-136.704141	KEEP	2	5	-1	267	332	2	5	-1	9.114456	267	332	0.011278	1	0	0	0	0	1	0	0	0	--	--		0	T			PPFIBP1_uc010sjr.1_Missense_Mutation_p.A656V|PPFIBP1_uc001rib.1_Missense_Mutation_p.A819V|PPFIBP1_uc001ria.2_Missense_Mutation_p.A794V|PPFIBP1_uc001rid.1_Missense_Mutation_p.A672V|PPFIBP1_uc001rif.1_Missense_Mutation_p.A332V	271	GBM-76-4932-TP	p.A825V	C	GCAGAATATGCGCCCAATCTC	NM_003622	NP_003613	27841316	Q86W92	LIPB1_HUMAN	0			25	2851	+	T	T	Lung SC(9;0.0873)		Missense_Mutation	825			SAM 3.			
PPIAL4G	0	broad.mit.edu	GRCh37	1	143767630	143767630	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-5136-01	TCGA-26-5136-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000419275.1:c.219C>T	p.Thr73=	p.T73=	ENST00000419275	NM_001123068.1	73	acC/acT	0			1			A	T	uc001ejt.2	protein_coding	YES	CCDS41375.1			219/495										0	c.(217-219)ACC>ACT			Gene3D:2.40.100.10,Pfam_domain:PF00160,PIRSF_domain:PIRSF001467,PROSITE_profiles:PS50072,hmmpanther:PTHR11071,hmmpanther:PTHR11071:SF237,Superfamily_domains:SSF50891	peptidylprolyl isomerase A (cyclophilin A)-like				ENSP00000393845		1-Jan	6.62E-05			0.000347	0.000151	6.18E-05			rs782382044,COSM895045	1-Jan	.		ENST00000419275	Transcript			protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity	ENSG00000236334	g.chr1:143767630G>A	33996			LOW								--	--	1																																			0,1	1			p.T73T	NM_001123068	NP_001116540			0,1	PAL4G_HUMAN	PPIAL4G	HGNC	A2BFH1	PAL4G_HUMAN					1	252	-			UPI0000197DBC	73			PPIase cyclophilin-type.		SNV	PPIAL4G,synonymous_variant,p.=,ENST00000419275,NM_001123068.1;	uc001ejt.2	c.219C>T	252/738	2	2			c.219C>T						1	SNP	c.(217-219)ACC>ACT	29	29				0	Broad	peptidylprolyl isomerase A (cyclophilin A)-like			143767630		0.468	ENSG00000236334	12117	g.chr1:143767630G>A	protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity							-132.687897	KEEP	4	4	-1	354	326	4	4	-1	12.359313	354	326	0.01476	1	0	0	0	0	0	0	1	0	--	--		0	A				185	GBM-26-5136-TP	p.T73T	G	ACTTGTCACCGGTGCCATTAG	NM_001123068	NP_001116540	143767630	A2BFH1	PAL4G_HUMAN	0			1	252	-	A	A			Silent	73			PPIase cyclophilin-type.			
PPIG	9360	broad.mit.edu	GRCh37	2	170494029	170494029	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-02-0055-01	TCGA-02-0055-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260970.3:c.2261G>C	p.Gly754Ala	p.G754A	ENST00000260970	NM_004792.2	754	gGa/gCa	0			1			C	G/A	uc002uez.2	protein_coding	YES	CCDS2235.1			2261/2265									ovary(2)|central_nervous_system(1)	3	c.(2260-2262)GGA>GCA				peptidylprolyl isomerase G	L-Proline(DB00172)			ENSP00000260970		14/14									COSM3407048	14/14	.		ENST00000260970	Transcript			protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	ENSG00000138398	g.chr2:170494029G>C	14650			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=PPIG_HUMAN&rb=723&re=754&var=G754A	NA	getma.org/?cm=var&var=hg19,2,170494029,G,C&fts=all	G754A	--	--	1																																		PPIG_uc010fpx.2_Missense_Mutation_p.G739A|PPIG_uc010fpy.2_Missense_Mutation_p.G747A|PPIG_uc002ufb.2_Missense_Mutation_p.G754A|PPIG_uc002ufd.2_Missense_Mutation_p.G751A	1	1		unknown(0)	p.G754A	NM_004792	NP_004783		deleterious_low_confidence(0)	1	PPIG_HUMAN	PPIG	HGNC	Q13427	PPIG_HUMAN			C9JT64_HUMAN,C9JN15_HUMAN		14	2481	+			UPI000013D124	754					SNV	PPIG,missense_variant,p.Gly754Ala,ENST00000260970,NM_004792.2;PPIG,missense_variant,p.Gly739Ala,ENST00000409714,;PPIG,missense_variant,p.Gly754Ala,ENST00000448752,;PPIG,downstream_gene_variant,,ENST00000462903,;PPIG,downstream_gene_variant,,ENST00000433207,;PPIG,downstream_gene_variant,,ENST00000482772,;PPIG,downstream_gene_variant,,ENST00000466142,;	uc002uez.2	c.2261G>C	2481/6368	3	3			c.2261G>C						2	SNP	c.(2260-2262)GGA>GCA	60	60			ovary(2)|central_nervous_system(1)	3	Broad	peptidylprolyl isomerase G		L-Proline(DB00172)	170494029		0.313	ENSG00000138398	12123	g.chr2:170494029G>C	protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity							29.65084	KEEP	6	7	-1	36	31	6	7	-1	37.681768	36	31	0.162162	1	0	0	0	0	1	0	0	0	--	--		0	C			PPIG_uc010fpx.2_Missense_Mutation_p.G739A|PPIG_uc010fpy.2_Missense_Mutation_p.G747A|PPIG_uc002ufb.2_Missense_Mutation_p.G754A|PPIG_uc002ufd.2_Missense_Mutation_p.G751A	4	GBM-02-0055-TP	p.G754A	G	GACAAAAGCGGATGAGTGAGT	NM_004792	NP_004783	170494029	Q13427	PPIG_HUMAN	0			14	2481	+	C	C			Missense_Mutation	754						
PPIG	0	broad.mit.edu	GRCh37	2	170493100	170493100	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-14-0786-01	TCGA-14-0786-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260970.3:c.1332A>C	p.Lys444Asn	p.K444N	ENST00000260970	NM_004792.2	444	aaA/aaC	0			1			C	K/N	uc002uez.2	protein_coding	YES	CCDS2235.1			1332/2265									ovary(2)|central_nervous_system(1)	3	c.(1330-1332)AAA>AAC			Low_complexity_(Seg):seg	peptidylprolyl isomerase G	L-Proline(DB00172)			ENSP00000260970		14/14									COSM3407047	14/14	.		ENST00000260970	Transcript			protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	ENSG00000138398	g.chr2:170493100A>C	14650			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=PPIG_HUMAN&rb=391&re=752&var=K444N	NA	getma.org/?cm=var&var=hg19,2,170493100,A,C&fts=all	K444N	--	--	1																																		PPIG_uc010fpx.2_Missense_Mutation_p.K429N|PPIG_uc010fpy.2_Missense_Mutation_p.K437N|PPIG_uc002ufb.2_Missense_Mutation_p.K444N|PPIG_uc002ufd.2_Missense_Mutation_p.K441N	1	1		unknown(0)	p.K444N	NM_004792	NP_004783		deleterious_low_confidence(0.01)	1	PPIG_HUMAN	PPIG	HGNC	Q13427	PPIG_HUMAN			C9JT64_HUMAN,C9JN15_HUMAN		14	1552	+			UPI000013D124	444					SNV	PPIG,missense_variant,p.Lys444Asn,ENST00000260970,NM_004792.2;PPIG,missense_variant,p.Lys429Asn,ENST00000409714,;PPIG,missense_variant,p.Lys444Asn,ENST00000448752,;PPIG,missense_variant,p.Lys437Asn,ENST00000433207,;PPIG,downstream_gene_variant,,ENST00000462903,;PPIG,non_coding_transcript_exon_variant,,ENST00000482772,;PPIG,downstream_gene_variant,,ENST00000466142,;	uc002uez.2	c.1332A>C	1552/6368	3	3			c.1332A>C						2	SNP	c.(1330-1332)AAA>AAC	1	1			ovary(2)|central_nervous_system(1)	3	Broad	peptidylprolyl isomerase G		L-Proline(DB00172)	170493100		0.313	ENSG00000138398	12123	g.chr2:170493100A>C	protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity							78.070651	KEEP	10	15	-1	12	17	10	15	-1	78.087475	12	17	0.480769	1	0	0	0	0	1	0	0	0	--	--		0	C			PPIG_uc010fpx.2_Missense_Mutation_p.K429N|PPIG_uc010fpy.2_Missense_Mutation_p.K437N|PPIG_uc002ufb.2_Missense_Mutation_p.K444N|PPIG_uc002ufd.2_Missense_Mutation_p.K441N	134	GBM-14-0786-TP	p.K444N	A	ATTCAGAAAAAGATGACAAGT	NM_004792	NP_004783	170493100	Q13427	PPIG_HUMAN	0			14	1552	+	C	C			Missense_Mutation	444						
PPIL2	23759	broad.mit.edu	GRCh37	22	22042378	22042378	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-5856-01	TCGA-06-5856-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000412327.1:c.1004C>A	p.Pro335His	p.P335H	ENST00000412327	NM_148176.2	335	cCc/cAc	0			1			A	P/H	uc010gtj.1	protein_coding		CCDS13793.1			1004/1563									ovary(2)	2	c.(1003-1005)CCC>CAC			Gene3D:2.40.100.10,Pfam_domain:PF00160,PROSITE_profiles:PS50072,hmmpanther:PTHR11071,hmmpanther:PTHR11071:SF147,Low_complexity_(Seg):seg,Superfamily_domains:SSF50891	peptidylprolyl isomerase-like 2 isoform a				ENSP00000334553		14/21									COSM3405535	14/21	.		ENST00000335025	Transcript			blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity	ENSG00000100023	g.chr22:22042378C>A	9261			MODERATE		3.575	high	getma.org/?cm=msa&ty=f&p=PPIL2_HUMAN&rb=281&re=433&var=P335H	getma.org/pdb.php?prot=PPIL2_HUMAN&from=281&to=433&var=P335H	getma.org/?cm=var&var=hg19,22,22042378,C,A&fts=all	P335H	--	--	1																																		PPIL2_uc002zvh.3_Missense_Mutation_p.P335H|PPIL2_uc002zvi.3_Missense_Mutation_p.P335H|PPIL2_uc002zvg.3_Missense_Mutation_p.P335H|PPIL2_uc011aij.1_Missense_Mutation_p.P314H|PPIL2_uc002zvk.3_Missense_Mutation_p.P81H	1			probably_damaging(0.997)	p.P335H	NM_148175	NP_680480		deleterious(0)	1	PPIL2_HUMAN	PPIL2	HGNC	Q13356	PPIL2_HUMAN					14	1120	+	Colorectal(54;0.105)		UPI0000128C6F	335			PPIase cyclophilin-type.		SNV	PPIL2,missense_variant,p.Pro335His,ENST00000335025,;PPIL2,missense_variant,p.Pro335His,ENST00000406385,;PPIL2,missense_variant,p.Pro335His,ENST00000412327,NM_148176.2,NM_148175.2,NM_014337.3;PPIL2,missense_variant,p.Pro335His,ENST00000398831,;PPIL2,missense_variant,p.Pro314His,ENST00000456792,;PPIL2,missense_variant,p.Pro335His,ENST00000492445,;PPIL2,non_coding_transcript_exon_variant,,ENST00000446951,;PPIL2,downstream_gene_variant,,ENST00000484439,;PPIL2,3_prime_UTR_variant,,ENST00000417788,;	uc010gtj.1	c.1004C>A	1095/4929	2	2			c.1004C>A						22	SNP	c.(1003-1005)CCC>CAC	26	26			ovary(2)	2	Broad	peptidylprolyl isomerase-like 2 isoform a			22042378		0.642	ENSG00000100023	12126	g.chr22:22042378C>A	blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity							67.235422	KEEP	29	16	0.355555556	102	90	29	16	0.355555556	86.998865	102	90	0.178218	1	0	0	0	0	1	0	0	0	--	--		0	A			PPIL2_uc002zvh.3_Missense_Mutation_p.P335H|PPIL2_uc002zvi.3_Missense_Mutation_p.P335H|PPIL2_uc002zvg.3_Missense_Mutation_p.P335H|PPIL2_uc011aij.1_Missense_Mutation_p.P314H|PPIL2_uc002zvk.3_Missense_Mutation_p.P81H	101	GBM-06-5856-TP	p.P335H	C	GGGGGCGACCCCACAGGCACA	NM_148175	NP_680480	22042378	Q13356	PPIL2_HUMAN	0			14	1120	+	A	A	Colorectal(54;0.105)		Missense_Mutation	335			PPIase cyclophilin-type.			
PPIL6	285755	broad.mit.edu	GRCh37	6	109752404	109752404	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01	TCGA-06-5413-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000440797.2:c.376G>A	p.Ala126Thr	p.A126T	ENST00000440797	NM_001111298.2	126	Gca/Aca	0			1			T	A/T	uc003ptg.3	protein_coding		CCDS5074.1			376/936										0	c.(376-378)GCA>ACA			hmmpanther:PTHR11071,hmmpanther:PTHR11071:SF210	peptidylprolyl isomerase-like 6 isoform 1				ENSP00000427929		8-Mar	4.94E-05	0.000192						0.000242	rs763721663,COSM1439644	8-Mar	.		ENST00000521072	Transcript			protein folding		peptidyl-prolyl cis-trans isomerase activity	ENSG00000185250	g.chr6:109752404C>T	21557			MODERATE		2.39	medium	getma.org/?cm=msa&ty=f&p=PPIL6_HUMAN&rb=1&re=144&var=A126T	NA	getma.org/?cm=var&var=hg19,6,109752404,C,T&fts=all	A126T	--	--	1																																		PPIL6_uc010kdo.2_Missense_Mutation_p.A94T|PPIL6_uc010kdp.2_Missense_Mutation_p.A126T	0,1			possibly_damaging(0.581)	p.A126T	NM_173672	NP_775943		tolerated(0.07)	0,1	PPIL6_HUMAN	PPIL6	HGNC	Q8IXY8	PPIL6_HUMAN		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)			3	430	-		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	UPI000007430C	126					SNV	PPIL6,missense_variant,p.Ala126Thr,ENST00000521072,NM_173672.4;PPIL6,missense_variant,p.Ala94Thr,ENST00000424445,NM_001286360.1;PPIL6,missense_variant,p.Ala126Thr,ENST00000440797,NM_001111298.2;PPIL6,missense_variant,p.Ala83Thr,ENST00000417394,;PPIL6,missense_variant,p.Ala66Thr,ENST00000520723,;PPIL6,missense_variant,p.Ala74Thr,ENST00000518648,;AL109947.1,downstream_gene_variant,,ENST00000459391,;PPIL6,non_coding_transcript_exon_variant,,ENST00000524031,;PPIL6,missense_variant,p.Ala126Thr,ENST00000447468,;	uc003ptg.3	c.376G>A	957/4128	1	1			c.376G>A						6	SNP	c.(376-378)GCA>ACA	8	8				0	Broad	peptidylprolyl isomerase-like 6 isoform 1			109752404		0.393	ENSG00000185250	12130	g.chr6:109752404C>T	protein folding		peptidyl-prolyl cis-trans isomerase activity							-12.47696	KEEP	1	3	-1	55	44	1	3	-1	7.511205	55	44	0.044444	1	0	0	0	0	1	0	0	0	--	--		0	T			PPIL6_uc010kdo.2_Missense_Mutation_p.A94T|PPIL6_uc010kdp.2_Missense_Mutation_p.A126T	96	GBM-06-5413-TP	p.A126T	C	TCAGTGAGTGCGTCATAAAGT	NM_173672	NP_775943	109752404	Q8IXY8	PPIL6_HUMAN	0		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)	3	430	-	T	T		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	Missense_Mutation	126						
PPL	5493	broad.mit.edu	GRCh37	16	4937215	4937215	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01	TCGA-06-0743-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345988.2:c.2528C>T	p.Ala843Val	p.A843V	ENST00000345988	NM_002705.4	843	gCc/gTc	0			1			A	A/V	uc002cyd.1	protein_coding	YES	CCDS10526.1			2528/5271									ovary(4)|central_nervous_system(1)|skin(1)	6	c.(2527-2529)GCC>GTC			hmmpanther:PTHR23169,Low_complexity_(Seg):seg,SMART_domains:SM00150	periplakin				ENSP00000340510		21/22									COSM1128946	21/22	.		ENST00000345988	Transcript			keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	ENSG00000118898	g.chr16:4937215G>A	9273			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=PEPL_HUMAN&rb=801&re=1000&var=A843V	NA	getma.org/?cm=var&var=hg19,16,4937215,G,A&fts=all	A843V	--	--	1																																			1	1		benign(0.008)	p.A843V	NM_002705	NP_002696		tolerated(0.07)	1	PEPL_HUMAN	PPL	HGNC	O60437	PEPL_HUMAN					21	2618	-			UPI00001AE832	843			Spectrin 4.		SNV	PPL,missense_variant,p.Ala843Val,ENST00000345988,NM_002705.4;PPL,missense_variant,p.Ala841Val,ENST00000590782,;PPL,missense_variant,p.Ala264Val,ENST00000592772,;UBN1,downstream_gene_variant,,ENST00000396658,NM_016936.3;UBN1,downstream_gene_variant,,ENST00000262376,NM_001079514.1;UBN1,downstream_gene_variant,,ENST00000545171,NM_001288656.1;PPL,downstream_gene_variant,,ENST00000590093,;PPL,downstream_gene_variant,,ENST00000589090,;	uc002cyd.1	c.2528C>T	2618/6238	2	2			c.2528C>T						16	SNP	c.(2527-2529)GCC>GTC	21	21			ovary(4)|central_nervous_system(1)|skin(1)	6	Broad	periplakin			4937215		0.483	ENSG00000118898	12133	g.chr16:4937215G>A	keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton							-42.767809	KEEP	1	3	-1	94	112	1	3	-1	6.578751	94	112	0.020833	1	0	0	0	0	1	0	0	0	--	--		0	A				65	GBM-06-0743-TP	p.A843V	G	GAACTTGGCGGCAAGTGCTGC	NM_002705	NP_002696	4937215	O60437	PEPL_HUMAN	0			21	2618	-	A	A			Missense_Mutation	843			Spectrin 4.			
PPL	5493	broad.mit.edu	GRCh37	16	4952435	4952435	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-5417-01	TCGA-06-5417-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345988.2:c.410A>G	p.Asn137Ser	p.N137S	ENST00000345988	NM_002705.4	137	aAc/aGc	0			1			C	N/S	uc002cyd.1	protein_coding	YES	CCDS10526.1			410/5271									ovary(4)|central_nervous_system(1)|skin(1)	6	c.(409-411)AAC>AGC			hmmpanther:PTHR23169,SMART_domains:SM00150,Superfamily_domains:SSF46966	periplakin				ENSP00000340510		22-Apr									COSM2153282	22-Apr	.		ENST00000345988	Transcript			keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	ENSG00000118898	g.chr16:4952435T>C	9273			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=PEPL_HUMAN&rb=1&re=200&var=N137S	NA	getma.org/?cm=var&var=hg19,16,4952435,T,C&fts=all	N137S	--	--	1																																			1	1		possibly_damaging(0.805)	p.N137S	NM_002705	NP_002696		deleterious(0.02)	1	PEPL_HUMAN	PPL	HGNC	O60437	PEPL_HUMAN					4	500	-			UPI00001AE832	137					SNV	PPL,missense_variant,p.Asn137Ser,ENST00000345988,NM_002705.4;PPL,missense_variant,p.Asn137Ser,ENST00000590782,;PPL,splice_region_variant,,ENST00000592772,;	uc002cyd.1	c.410A>G	500/6238	3	3			c.410A>G						16	SNP	c.(409-411)AAC>AGC	4	4			ovary(4)|central_nervous_system(1)|skin(1)	6	Broad	periplakin			4952435		0.637	ENSG00000118898	12133	g.chr16:4952435T>C	keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton							186.131102	KEEP	32	29	-1	13	23	32	29	-1	188.697132	13	23	0.69863	1	0	0	0	0	1	0	0	0	--	--		0	C				99	GBM-06-5417-TP	p.N137S	T	TGCCGCCCAGTTGACCTGTGG	NM_002705	NP_002696	4952435	O60437	PEPL_HUMAN	0			4	500	-	C	C			Missense_Mutation	137						
PPM1A	0	broad.mit.edu	GRCh37	14	60749967	60749967	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-19-1790-01	TCGA-19-1790-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395076.4:c.546A>G	p.Val182=	p.V182=	ENST00000395076	NM_021003.4	182	gtA/gtG	0			1			G	V	uc010apn.2	protein_coding		CCDS9744.1			546/1149									skin(1)	1	c.(544-546)GTA>GTG			Gene3D:3.60.40.10,Pfam_domain:PF00481,hmmpanther:PTHR13832,hmmpanther:PTHR13832:SF262,SMART_domains:SM00332,Superfamily_domains:SSF81606	protein phosphatase 1A isoform 1				ENSP00000378514		6-Feb									COSM3401377,COSM3401376	6-Feb	.		ENST00000395076	Transcript			cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity	ENSG00000100614	g.chr14:60749967A>G	9275			LOW								--	--	1																																		PPM1A_uc001xew.3_Silent_p.V255V|PPM1A_uc001xex.3_Silent_p.V182V|PPM1A_uc001xey.3_Silent_p.V182V	1,1				p.V182V	NM_021003	NP_066283			1,1	PPM1A_HUMAN	PPM1A	HGNC	P35813	PPM1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.046)	E9PL75_HUMAN,E9PKB5_HUMAN,E9PJN3_HUMAN		3	948	+			UPI00001103E2	182					SNV	PPM1A,synonymous_variant,p.=,ENST00000395076,NM_021003.4;PPM1A,synonymous_variant,p.=,ENST00000325658,NM_177951.2;PPM1A,synonymous_variant,p.=,ENST00000325642,NM_177952.2;PPM1A,synonymous_variant,p.=,ENST00000529574,;PPM1A,synonymous_variant,p.=,ENST00000525399,;PPM1A,downstream_gene_variant,,ENST00000531937,;PPM1A,downstream_gene_variant,,ENST00000528241,;PPM1A,3_prime_UTR_variant,,ENST00000531143,;PPM1A,intron_variant,,ENST00000532036,;	uc010apn.2	c.546A>G	976/8184	3	3			c.546A>G						14	SNP	c.(544-546)GTA>GTG	55	55			skin(1)	1	Broad	protein phosphatase 1A isoform 1			60749967		0.443	ENSG00000100614	12134	g.chr14:60749967A>G	cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity							-27.488825	KEEP	0	3	-1	62	79	0	3	-1	7.177404	62	79	0.022059	1	0	0	0	0	0	0	1	0	--	--		0	G			PPM1A_uc001xew.3_Silent_p.V255V|PPM1A_uc001xex.3_Silent_p.V182V|PPM1A_uc001xey.3_Silent_p.V182V	160	GBM-19-1790-TP	p.V182V	A	GTGGCTCTGTAATGATTCAGC	NM_021003	NP_066283	60749967	P35813	PPM1A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.046)	3	948	+	G	G			Silent	182						
PPM1B	0	broad.mit.edu	GRCh37	2	44428594	44428594	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-1977-01	TCGA-32-1977-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282412.4:c.256A>G	p.Arg86Gly	p.R86G	ENST00000282412	NM_002706.4	86	Agg/Ggg	0			1			G	R/G	uc002rtt.2	protein_coding	YES	CCDS1817.1			256/1440									kidney(1)|skin(1)	2	c.(256-258)AGG>GGG			hmmpanther:PTHR13832:SF244,hmmpanther:PTHR13832,Pfam_domain:PF00481,Gene3D:3.60.40.10,SMART_domains:SM00332,Superfamily_domains:SSF81606	protein phosphatase 1B isoform 1				ENSP00000282412		6-Feb	8.24E-06							6.06E-05	rs759631737,COSM188967,COSM3407869,COSM3407870	6-Feb	.		ENST00000282412	Transcript	1		protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	ENSG00000138032	g.chr2:44428594A>G	9276			MODERATE		-0.03	neutral	getma.org/?cm=msa&ty=f&p=PPM1B_HUMAN&rb=22&re=288&var=R86G	getma.org/pdb.php?prot=PPM1B_HUMAN&from=22&to=288&var=R86G	getma.org/?cm=var&var=hg19,2,44428594,A,G&fts=all	R86G	--	--	1																																		PPM1B_uc002rts.2_Missense_Mutation_p.R86G|PPM1B_uc002rtu.2_Missense_Mutation_p.R86G|PPM1B_uc002rtv.2_Intron|PPM1B_uc002rtw.2_Missense_Mutation_p.R86G|PPM1B_uc002rtx.2_Missense_Mutation_p.R86G	0,1,1,1	1		benign(0.004)	p.R86G	NM_002706	NP_002697		tolerated(0.24)	0,1,1,1	PPM1B_HUMAN	PPM1B	HGNC	O75688	PPM1B_HUMAN			C9JIR6_HUMAN		2	684	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	UPI0000130FE7	86					SNV	PPM1B,missense_variant,p.Arg86Gly,ENST00000378551,NM_177968.2;PPM1B,missense_variant,p.Arg86Gly,ENST00000409432,NM_001033557.1;PPM1B,missense_variant,p.Arg86Gly,ENST00000282412,NM_002706.4;PPM1B,missense_variant,p.Arg86Gly,ENST00000419807,;PPM1B,missense_variant,p.Arg86Gly,ENST00000409895,NM_001033556.1;PPM1B,missense_variant,p.Arg86Gly,ENST00000409473,;PPM1B,intron_variant,,ENST00000345249,NM_177969.2;PPM1B,non_coding_transcript_exon_variant,,ENST00000378540,;PPM1B,upstream_gene_variant,,ENST00000459690,;PPM1B,upstream_gene_variant,,ENST00000487286,;PPM1B,non_coding_transcript_exon_variant,,ENST00000409486,;	uc002rtt.2	c.256A>G	668/2606	3	3			c.256A>G						2	SNP	c.(256-258)AGG>GGG	64	64			kidney(1)|skin(1)	2	Broad	protein phosphatase 1B isoform 1			44428594		0.383	ENSG00000138032	12135	g.chr2:44428594A>G	protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity							-38.562532	KEEP	3	1	-1	97	102	3	1	-1	9.024312	97	102	0.021505	1	0	0	0	0	1	0	0	0	--	--		0	G			PPM1B_uc002rts.2_Missense_Mutation_p.R86G|PPM1B_uc002rtu.2_Missense_Mutation_p.R86G|PPM1B_uc002rtv.2_Intron|PPM1B_uc002rtw.2_Missense_Mutation_p.R86G|PPM1B_uc002rtx.2_Missense_Mutation_p.R86G	229	GBM-32-1977-TP	p.R86G	A	CGAAGACTTTAGGGCAGCTGG	NM_002706	NP_002697	44428594	O75688	PPM1B_HUMAN	0			2	684	+	G	G		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Missense_Mutation	86						
PPM1D	0	broad.mit.edu	GRCh37	17	58711271	58711271	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-1825-01	TCGA-14-1825-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305921.3:c.759C>T	p.His253=	p.H253=	ENST00000305921	NM_003620.3	253	caC/caT	0			1			T	H	uc002iyt.1	protein_coding	YES	CCDS11625.1			759/1818									upper_aerodigestive_tract(1)	1	c.(757-759)CAC>CAT			Gene3D:3.60.40.10,Pfam_domain:PF00481,hmmpanther:PTHR13832,hmmpanther:PTHR13832:SF231,SMART_domains:SM00332,Superfamily_domains:SSF81606	protein phosphatase 1D				ENSP00000306682		6-Mar	8.24E-06							6.06E-05	rs749755269,COSM3403077	6-Mar	.		ENST00000305921	Transcript			negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	ENSG00000170836	g.chr17:58711271C>T	9277			LOW								--	--	1																																		PPM1D_uc010ddm.1_RNA	0,1	1			p.H253H	NM_003620	NP_003611			0,1	PPM1D_HUMAN	PPM1D	HGNC	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)				3	981	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		UPI0000130FE8	253			PP2C-like.		SNV	PPM1D,synonymous_variant,p.=,ENST00000305921,NM_003620.3;PPM1D,synonymous_variant,p.=,ENST00000590418,;PPM1D,synonymous_variant,p.=,ENST00000392995,;	uc002iyt.1	c.759C>T	991/2986	1	1			c.759C>T						17	SNP	c.(757-759)CAC>CAT	4	4			upper_aerodigestive_tract(1)	1	Broad	protein phosphatase 1D			58711271		0.363	ENSG00000170836	12136	g.chr17:58711271C>T	negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity							136.973809	KEEP	22	24	-1	21	22	22	24	-1	136.996151	21	22	0.517241	1	0	0	0	0	0	0	1	0	--	--		0	T			PPM1D_uc010ddm.1_RNA	148	GBM-14-1825-TP	p.H253H	C	GACTCACTCACAATGGACCTG	NM_003620	NP_003611	58711271	O15297	PPM1D_HUMAN	0	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		3	981	+	T	T	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Silent	253			PP2C-like.			
PPM1D	0	broad.mit.edu	GRCh37	17	58678099	58678099	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-1834-01	TCGA-27-1834-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305921.3:c.324C>T	p.Gly108=	p.G108=	ENST00000305921	NM_003620.3	108	ggC/ggT	0			1			T	G	uc002iyt.1	protein_coding	YES	CCDS11625.1			324/1818									upper_aerodigestive_tract(1)	1	c.(322-324)GGC>GGT			Gene3D:3.60.40.10,Pfam_domain:PF00481,PROSITE_patterns:PS01032,hmmpanther:PTHR13832,hmmpanther:PTHR13832:SF231,SMART_domains:SM00332,Superfamily_domains:SSF81606	protein phosphatase 1D				ENSP00000306682		6-Jan									COSM3403076	6-Jan	.		ENST00000305921	Transcript			negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	ENSG00000170836	g.chr17:58678099C>T	9277			LOW								--	--	1																																		PPM1D_uc010ddm.1_RNA	1	1			p.G108G	NM_003620	NP_003611			1	PPM1D_HUMAN	PPM1D	HGNC	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)				1	546	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		UPI0000130FE8	108			PP2C-like.		SNV	PPM1D,synonymous_variant,p.=,ENST00000305921,NM_003620.3;PPM1D,upstream_gene_variant,,ENST00000590418,;PPM1D,synonymous_variant,p.=,ENST00000392995,;	uc002iyt.1	c.324C>T	556/2986	2	2			c.324C>T						17	SNP	c.(322-324)GGC>GGT	29	29			upper_aerodigestive_tract(1)	1	Broad	protein phosphatase 1D			58678099		0.692	ENSG00000170836	12136	g.chr17:58678099C>T	negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity							4.008554	KEEP	0	4	-1	29	23	0	4	-1	7.065049	29	23	0.130435	1	0	0	0	0	0	0	1	0	--	--		0	T			PPM1D_uc010ddm.1_RNA	193	GBM-27-1834-TP	p.G108G	C	ACGGGCACGGCGGGCGGGAGG	NM_003620	NP_003611	58678099	O15297	PPM1D_HUMAN	0	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		1	546	+	T	T	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Silent	108			PP2C-like.			
PPM1D	0	broad.mit.edu	GRCh37	17	58725371	58725371	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-41-2573-01	TCGA-41-2573-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305921.3:c.945A>T	p.Gly315=	p.G315=	ENST00000305921	NM_003620.3	315	ggA/ggT	0			1			T	G	uc002iyt.1	protein_coding	YES	CCDS11625.1			945/1818									upper_aerodigestive_tract(1)	1	c.(943-945)GGA>GGT			Gene3D:3.60.40.10,Pfam_domain:PF00481,hmmpanther:PTHR13832,hmmpanther:PTHR13832:SF231,SMART_domains:SM00332,Superfamily_domains:SSF81606	protein phosphatase 1D				ENSP00000306682		6-Apr									COSM3403078	6-Apr	.		ENST00000305921	Transcript			negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	ENSG00000170836	g.chr17:58725371A>T	9277			LOW								--	--	1																																		PPM1D_uc010ddm.1_RNA	1	1			p.G315G	NM_003620	NP_003611			1	PPM1D_HUMAN	PPM1D	HGNC	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)				4	1167	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		UPI0000130FE8	315			PP2C-like.		SNV	PPM1D,synonymous_variant,p.=,ENST00000305921,NM_003620.3;PPM1D,synonymous_variant,p.=,ENST00000392995,;	uc002iyt.1	c.945A>T	1177/2986	2	2			c.945A>T						17	SNP	c.(943-945)GGA>GGT	17	17			upper_aerodigestive_tract(1)	1	Broad	protein phosphatase 1D			58725371		0.413	ENSG00000170836	12136	g.chr17:58725371A>T	negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity							161.998445	KEEP	33	25	-1	33	28	33	25	-1	162.000542	33	28	0.504854	1	0	0	0	0	0	0	1	0	--	--		0	T			PPM1D_uc010ddm.1_RNA	252	GBM-41-2573-TP	p.G315G	A	GGAGTGATGGACTTTGGAATA	NM_003620	NP_003611	58725371	O15297	PPM1D_HUMAN	0	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		4	1167	+	T	T	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Silent	315			PP2C-like.			
PPM1D	8493		GRCh37	17	58740521	58740521	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000305921.3:c.1426G>T	p.Glu476Ter	p.E476*	ENST00000305921	NM_003620.3	476	Gaa/Taa	0																																																																																																																																																																																																																																												
PPM1J	0	broad.mit.edu	GRCh37	1	113252867	113252867	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs113935705	byFrequency	TCGA-28-5211-01	TCGA-28-5211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309276.6:c.1436G>A	p.Arg479His	p.R479H	ENST00000309276	NM_005167.5	479	cGt/cAt	0	T:0.0005	T:0	1	T:0		T	R/H	uc001ect.1	protein_coding	YES	CCDS855.2			1436/1518									breast(2)|central_nervous_system(1)	3	c.(1435-1437)CGT>CAT			Gene3D:3.60.40.10,hmmpanther:PTHR13832,hmmpanther:PTHR13832:SF260,SMART_domains:SM00332,Superfamily_domains:SSF81606	protein phosphatase 1J (PP2C domain containing)		T:0	T:0	ENSP00000308926	T:0	10-Oct	9.06E-05	9.99E-05				7.64E-05		0.000303	rs113935705,COSM1332774	10-Oct	.		ENST00000309276	Transcript		T:0.0002				ENSG00000155367	g.chr1:113252867C>T	20785			MODERATE		3.145	medium	getma.org/?cm=msa&ty=f&p=PPM1J_HUMAN&rb=134&re=498&var=R479H	getma.org/pdb.php?prot=PPM1J_HUMAN&from=134&to=498&var=R479H	getma.org/?cm=var&var=hg19,1,113252867,C,T&fts=all	R479H	--	--	1																																		RHOC_uc001ecq.1_5'Flank|RHOC_uc001ecr.1_5'Flank|RHOC_uc009wgk.1_5'Flank|PPM1J_uc009wgl.1_Intron|PPM1J_uc001ecs.1_Missense_Mutation_p.R273H	0,1	1		probably_damaging(0.964)	p.R479H	NM_005167	NP_005158	T:0.001	deleterious(0.01)	0,1	PPM1J_HUMAN	PPM1J	HGNC	Q5JR12	PPM1J_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)			10	1463	-	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	UPI000013EE69	479			PP2C-like.		SNV	PPM1J,missense_variant,p.Arg273His,ENST00000464951,;PPM1J,missense_variant,p.Arg479His,ENST00000309276,NM_005167.5;PPM1J,missense_variant,p.Arg273His,ENST00000359994,;RP11-426L16.10,intron_variant,,ENST00000606505,;RP11-426L16.10,intron_variant,,ENST00000605933,;RHOC,upstream_gene_variant,,ENST00000285735,;RHOC,upstream_gene_variant,,ENST00000339083,NM_175744.4;RHOC,upstream_gene_variant,,ENST00000369642,NM_001042678.1;RHOC,upstream_gene_variant,,ENST00000369633,NM_001042679.1;RHOC,upstream_gene_variant,,ENST00000369638,;RHOC,upstream_gene_variant,,ENST00000369632,;RHOC,upstream_gene_variant,,ENST00000369637,;RHOC,upstream_gene_variant,,ENST00000425265,;RHOC,upstream_gene_variant,,ENST00000369636,;RHOC,upstream_gene_variant,,ENST00000484054,;RHOC,upstream_gene_variant,,ENST00000436685,;RP11-426L16.10,intron_variant,,ENST00000471038,;PPM1J,intron_variant,,ENST00000471106,;RP11-426L16.10,intron_variant,,ENST00000607158,;RP11-426L16.10,intron_variant,,ENST00000606954,;RHOC,upstream_gene_variant,,ENST00000468093,;PPM1J,downstream_gene_variant,,ENST00000482367,;RHOC,upstream_gene_variant,,ENST00000484280,;PPM1J,downstream_gene_variant,,ENST00000486709,;RHOC,upstream_gene_variant,,ENST00000527563,;RHOC,upstream_gene_variant,,ENST00000528831,;RHOC,upstream_gene_variant,,ENST00000478447,;	uc001ect.1	c.1436G>A	1612/1863	2	2			c.1436G>A						1	SNP	c.(1435-1437)CGT>CAT	44	44			breast(2)|central_nervous_system(1)	3	Broad	protein phosphatase 1J (PP2C domain containing)			113252867		0.622	ENSG00000155367	12141	g.chr1:113252867C>T										11.888059	KEEP	4	8	-1	22	33	4	8	-1	17.552646	22	33	0.183333	1	0	0	0	0	1	0	0	0	--	--		0	T			RHOC_uc001ecq.1_5'Flank|RHOC_uc001ecr.1_5'Flank|RHOC_uc009wgk.1_5'Flank|PPM1J_uc009wgl.1_Intron|PPM1J_uc001ecs.1_Missense_Mutation_p.R273H	219	GBM-28-5211-TP	p.R479H	C	GTTGGGGAGACGCCAGCCACG	NM_005167	NP_005158	113252867	Q5JR12	PPM1J_HUMAN	0		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	10	1463	-	T	T	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	Missense_Mutation	479			PP2C-like.			
PPM1J	333926		GRCh37	1	113255057	113255057	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000309276.6:c.752G>A	p.Arg251Gln	p.R251Q	ENST00000309276	NM_005167.5	251	cGg/cAg	0																																																																																																																																																																																																																																												
PPM1L	0	broad.mit.edu	GRCh37	3	160786689	160786689	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-0871-01	TCGA-14-0871-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000498165.1:c.827A>G	p.Asn276Ser	p.N276S	ENST00000498165	NM_139245.2	276	aAc/aGc	0			1			G	N/S	uc003fdr.2	protein_coding	YES	CCDS33886.1			827/1083									breast(1)	1	c.(826-828)AAC>AGC			Gene3D:3.60.40.10,Pfam_domain:PF00481,hmmpanther:PTHR13832,SMART_domains:SM00331,SMART_domains:SM00332,Superfamily_domains:SSF81606	protein phosphatase 1 (formerly 2C)-like				ENSP00000417659		4-Apr									COSM3408393,COSM3408392	4-Apr	.		ENST00000498165	Transcript			protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	ENSG00000163590	g.chr3:160786689A>G	16381			MODERATE		0.405	neutral	getma.org/?cm=msa&ty=f&p=PPM1L_HUMAN&rb=91&re=344&var=N276S	getma.org/pdb.php?prot=PPM1L_HUMAN&from=91&to=344&var=N276S	getma.org/?cm=var&var=hg19,3,160786689,A,G&fts=all	N276S	--	--	1																																		PPM1L_uc003fds.2_Missense_Mutation_p.N97S|PPM1L_uc003fdt.2_Missense_Mutation_p.N149S|PPM1L_uc010hwf.2_RNA	1,1	1		benign(0.217)	p.N276S	NM_139245	NP_640338		deleterious(0.03)	1,1	PPM1L_HUMAN	PPM1L	HGNC	Q5SGD2	PPM1L_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)				4	928	+			UPI000046F91B	276			Cytoplasmic (Potential).|PP2C-like.		SNV	PPM1L,missense_variant,p.Asn276Ser,ENST00000498165,NM_139245.2;PPM1L,missense_variant,p.Asn97Ser,ENST00000464260,;PPM1L,missense_variant,p.Asn149Ser,ENST00000295839,;PPM1L,non_coding_transcript_exon_variant,,ENST00000480117,;	uc003fdr.2	c.827A>G	928/10934	4	4			c.827A>G						3	SNP	c.(826-828)AAC>AGC	21	21			breast(1)	1	Broad	protein phosphatase 1 (formerly 2C)-like			160786689		0.522	ENSG00000163590	12143	g.chr3:160786689A>G	protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	Pancreas(86;250 1994 13715 43211)			Pancreas(86;250 1994 13715 43211)			-28.902663	KEEP	2	1	-1	78	62	2	1	-1	6.359824	78	62	0.021739	1	0	0	0	0	1	0	0	0	--	--		0	G			PPM1L_uc003fds.2_Missense_Mutation_p.N97S|PPM1L_uc003fdt.2_Missense_Mutation_p.N149S|PPM1L_uc010hwf.2_RNA	141	GBM-14-0871-TP	p.N276S	A	AAAAATCTCAACGTGGTCATC	NM_139245	NP_640338	160786689	Q5SGD2	PPM1L_HUMAN	0	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		4	928	+	G	G			Missense_Mutation	276			Cytoplasmic (Potential).|PP2C-like.			
PPM1N	0	broad.mit.edu	GRCh37	19	46003206	46003206	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C			TCGA-14-0786-01	TCGA-14-0786-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000451287.2:c.940-1G>C		p.X314_splice	ENST00000451287	NM_001080401.1			0			1			C		uc002pce.2	protein_coding	YES	CCDS46115.1			940/1293										0	c.e2-1				protein phosphatase 1B-like				ENSP00000397050											COSM3404383		.		ENST00000451287	Transcript					magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity	ENSG00000213889	g.chr19:46003206G>C	26845			HIGH	4-Jan							--	--	1																																		RTN2_uc002pcb.2_5'Flank|RTN2_uc002pcc.2_5'Flank|RTN2_uc002pcd.2_5'Flank|PPM1N_uc002pcf.2_Splice_Site	1	1			p.G314_splice	NM_001080401	NP_001073870			1	PPM1N_HUMAN	PPM1N	HGNC	Q8N819	PPM1N_HUMAN					2	940	+			UPI0000DD84FC						SNV	PPM1N,splice_acceptor_variant,,ENST00000451287,NM_001080401.1;PPM1N,splice_acceptor_variant,,ENST00000396735,;PPM1N,splice_acceptor_variant,,ENST00000396737,;PPM1N,splice_acceptor_variant,,ENST00000401705,;PPM1N,splice_region_variant,,ENST00000456399,;PPM1N,3_prime_UTR_variant,,ENST00000324688,;RTN2,upstream_gene_variant,,ENST00000590526,;RTN2,upstream_gene_variant,,ENST00000245923,NM_005619.4;RTN2,upstream_gene_variant,,ENST00000344680,NM_206900.2;PPM1N,upstream_gene_variant,,ENST00000401593,;PPM1N,upstream_gene_variant,,ENST00000396736,;RTN2,upstream_gene_variant,,ENST00000589384,;PPM1N,3_prime_UTR_variant,,ENST00000415077,;RTN2,upstream_gene_variant,,ENST00000587597,;RTN2,upstream_gene_variant,,ENST00000591286,;	uc002pce.2	c.940_splice	-/1293	5	3			c.940_splice						19	SNP	c.e2-1	5	5				0	Broad	protein phosphatase 1B-like			46003206		0.607	ENSG00000213889	12145	g.chr19:46003206G>C			magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity							15.872928	KEEP	1	4	-1	3	4	1	4	-1	15.945684	3	4	0.416667	1	0	0	0	0	0	0	0	1	--	--		0	C			RTN2_uc002pcb.2_5'Flank|RTN2_uc002pcc.2_5'Flank|RTN2_uc002pcd.2_5'Flank|PPM1N_uc002pcf.2_Splice_Site	134	GBM-14-0786-TP	p.G314_splice	G	ACCGGCTTCAGGGCAGCCTGG	NM_001080401	NP_001073870	46003206	Q8N819	PPM1N_HUMAN	0			2	940	+	C	C			Splice_Site							
PPME1	51400	broad.mit.edu	GRCh37	11	73914828	73914828	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-5859-01	TCGA-06-5859-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328257.8:c.157A>T	p.Met53Leu	p.M53L	ENST00000328257	NM_016147.2	53	Atg/Ttg	0			1			T	M/L	uc001ouw.2	protein_coding	YES	CCDS44678.1			157/1161										0	c.(157-159)ATG>TTG			PIRSF_domain:PIRSF022950,hmmpanther:PTHR14189	protein phosphatase methylesterase 1				ENSP00000329867		14-Feb									COSM3398127	14-Feb	.		ENST00000328257	Transcript			protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity	ENSG00000214517	g.chr11:73914828A>T	30178			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=PPME1_HUMAN&rb=1&re=78&var=M53L	getma.org/pdb.php?prot=PPME1_HUMAN&from=1&to=78&var=M53L	getma.org/?cm=var&var=hg19,11,73914828,A,T&fts=all	M53L	--	--	1																																		PPME1_uc009yty.2_5'Flank	1	1		benign(0.013)	p.M53L	NM_016147	NP_057231		tolerated(0.65)	1	PPME1_HUMAN	PPME1	HGNC	Q9Y570	PPME1_HUMAN					2	256	+	Breast(11;3.29e-05)		UPI00000382E3	53					SNV	PPME1,missense_variant,p.Met53Leu,ENST00000328257,NM_016147.2,NM_001271593.1;PPME1,missense_variant,p.Met53Leu,ENST00000398427,;PPME1,missense_variant,p.Met53Leu,ENST00000544401,;RNA5SP343,upstream_gene_variant,,ENST00000363779,;PPME1,non_coding_transcript_exon_variant,,ENST00000542710,;	uc001ouw.2	c.157A>T	480/2677	2	2			c.157A>T						11	SNP	c.(157-159)ATG>TTG	25	25				0	Broad	protein phosphatase methylesterase 1			73914828		0.373	ENSG00000214517	12146	g.chr11:73914828A>T	protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity							104.279645	KEEP	20	25	-1	56	57	20	25	-1	109.09428	56	57	0.289256	1	0	0	0	0	1	0	0	0	--	--		0	T			PPME1_uc009yty.2_5'Flank	103	GBM-06-5859-TP	p.M53L	A	TTTTGAGTCCATGGAAGATGT	NM_016147	NP_057231	73914828	Q9Y570	PPME1_HUMAN	0			2	256	+	T	T	Breast(11;3.29e-05)		Missense_Mutation	53						
PPP1R10	0	broad.mit.edu	GRCh37	6	30573989	30573989	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-28-6450-01	TCGA-28-6450-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376511.2:c.666T>C	p.Pro222=	p.P222=	ENST00000376511	NM_002714.3	222	ccT/ccC	0			1			G	P	uc003nqn.1	protein_coding	YES	CCDS4681.1			666/2823									ovary(2)|lung(1)|kidney(1)	4	c.(664-666)CCT>CCC			hmmpanther:PTHR12506	protein phosphatase 1, regulatory subunit 10				ENSP00000365694		20-Sep									COSM3410909	20-Sep	.		ENST00000376511	Transcript			protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	ENSG00000204569	g.chr6:30573989A>G	9284			LOW								--	--	1																																		PPP1R10_uc010jsc.1_5'UTR	1	1			p.P222P	NM_002714	NP_002705			1	PP1RA_HUMAN	PPP1R10	HGNC	Q96QC0	PP1RA_HUMAN			Q2L6I0_HUMAN		9	1218	-			UPI000000D73C	222			Interaction with TOX4 (By similarity).		SNV	PPP1R10,synonymous_variant,p.=,ENST00000376511,NM_002714.3;PPP1R10,downstream_gene_variant,,ENST00000484449,;PPP1R10,non_coding_transcript_exon_variant,,ENST00000461593,;PPP1R10,non_coding_transcript_exon_variant,,ENST00000468181,;PPP1R10,upstream_gene_variant,,ENST00000476704,;PPP1R10,upstream_gene_variant,,ENST00000496955,;	uc003nqn.1	c.666T>C	1219/4525	4	4			c.666T>C						6	SNP	c.(664-666)CCT>CCC	17	17			ovary(2)|lung(1)|kidney(1)	4	Broad	protein phosphatase 1, regulatory subunit 10			30573989		0.527	ENSG00000204569	12151	g.chr6:30573989A>G	protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding							-6.22699	KEEP	1	2	-1	28	37	1	2	-1	6.663139	28	37	0.05	1	0	0	0	0	0	0	1	0	--	--		0	G			PPP1R10_uc010jsc.1_5'UTR	227	GBM-28-6450-TP	p.P222P	A	TCTTCTTCACAGGCACCAAGG	NM_002714	NP_002705	30573989	Q96QC0	PP1RA_HUMAN	0			9	1218	-	G	G			Silent	222			Interaction with TOX4 (By similarity).			
PPP1R12A	4659		GRCh37	12	80191152	80191152	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000450142.2:c.2115A>G	p.Gln705=	p.Q705=	ENST00000450142	NM_002480.2	705	caA/caG	0																																																																																																																																																																																																																																												
PPP1R12B	0	broad.mit.edu	GRCh37	1	202418229	202418229	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000608999.1:c.1780G>A	p.Gly594Arg	p.G594R	ENST00000608999	NM_002481.3	594	Ggg/Agg	0			1			A	G/R	uc001gya.1	protein_coding	YES	CCDS1426.1			1780/2949									ovary(3)	3	c.(1780-1782)GGG>AGG			PIRSF_domain:PIRSF038141,hmmpanther:PTHR24179,hmmpanther:PTHR24179:SF18	protein phosphatase 1, regulatory (inhibitor)				ENSP00000476755		13/24									COSM3400213,COSM3400214	13/24	.		ENST00000608999	Transcript			regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	ENSG00000077157	g.chr1:202418229G>A	7619			MODERATE		2.2	medium	getma.org/?cm=msa&ty=f&p=MYPT2_HUMAN&rb=482&re=607&var=G594R	NA	getma.org/?cm=var&var=hg19,1,202418229,G,A&fts=all	G594R	--	--	1																																		PPP1R12B_uc001gxz.1_Missense_Mutation_p.G594R	1,1	1		probably_damaging(0.996)	p.G594R	NM_002481	NP_002472		tolerated(0.1)	1,1		PPP1R12B	HGNC	O60237	MYPT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)				13	1924	+			UPI0000458A57	594					SNV	PPP1R12B,missense_variant,p.Gly594Arg,ENST00000608999,NM_002481.3,NM_001197131.1;PPP1R12B,missense_variant,p.Gly594Arg,ENST00000336894,;PPP1R12B,non_coding_transcript_exon_variant,,ENST00000498070,;PPP1R12B,downstream_gene_variant,,ENST00000434615,;	uc001gya.1	c.1780G>A	1933/15248	2	2			c.1780G>A						1	SNP	c.(1780-1782)GGG>AGG	18	18			ovary(3)	3	Broad	protein phosphatase 1, regulatory (inhibitor)			202418229		0.507	ENSG00000077157	12154	g.chr1:202418229G>A	regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity							24.283675	KEEP	7	6	-1	29	30	7	6	-1	30.578732	29	30	0.174603	1	0	0	0	0	1	0	0	0	--	--		0	A			PPP1R12B_uc001gxz.1_Missense_Mutation_p.G594R	160	GBM-19-1790-TP	p.G594R	G	CACTGCCAATGGGGTTACAGC	NM_002481	NP_002472	202418229	O60237	MYPT2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(75;0.166)		13	1924	+	A	A			Missense_Mutation	594						
PPP1R12C	54776	broad.mit.edu	GRCh37	19	55624065	55624065	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0879-01	TCGA-06-0879-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263433.3:c.420G>A	p.Val140=	p.V140=	ENST00000263433	NM_017607.3	140	gtG/gtA	0			1			T	V	uc002qix.2	protein_coding	YES	CCDS12916.1			420/2349									ovary(1)|central_nervous_system(1)	2	c.(418-420)GTG>GTA			Prints_domain:PR01415,Superfamily_domains:SSF48403,PIRSF_domain:PIRSF038141,SMART_domains:SM00248,Pfam_domain:PF12796,Gene3D:1.25.40.20,hmmpanther:PTHR24179,hmmpanther:PTHR24179:SF19,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297	protein phosphatase 1, regulatory subunit 12C				ENSP00000263433		22-Feb									COSM2152323	22-Feb	.		ENST00000263433	Transcript				cytoplasm		ENSG00000125503	g.chr19:55624065C>T	14947			LOW								--	--	1																																		PPP1R12C_uc010yfs.1_Silent_p.V66V|PPP1R12C_uc002qiy.2_Silent_p.V140V	1	1			p.V140V	NM_017607	NP_060077			1	PP12C_HUMAN	PPP1R12C	HGNC	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)			2	436	-			UPI000006FEE1	140			ANK 2.		SNV	PPP1R12C,synonymous_variant,p.=,ENST00000263433,NM_017607.3,NM_001271618.1;PPP1R12C,synonymous_variant,p.=,ENST00000376393,;PPP1R12C,synonymous_variant,p.=,ENST00000435544,;PPP1R12C,synonymous_variant,p.=,ENST00000592993,;PPP1R12C,non_coding_transcript_exon_variant,,ENST00000586992,;	uc002qix.2	c.420G>A	436/2924	2	2			c.420G>A						19	SNP	c.(418-420)GTG>GTA	24	24			ovary(1)|central_nervous_system(1)	2	Broad	protein phosphatase 1, regulatory subunit 12C			55624065		0.667	ENSG00000125503	12155	g.chr19:55624065C>T		cytoplasm								99.210551	KEEP	19	29	-1	77	73	19	29	-1	108.564369	77	73	0.245283	1	0	0	0	0	0	0	1	0	--	--		0	T			PPP1R12C_uc010yfs.1_Silent_p.V66V|PPP1R12C_uc002qiy.2_Silent_p.V140V	75	GBM-06-0879-TP	p.V140V	C	AGGAGGCGGCCACGTGCAGTG	NM_017607	NP_060077	55624065	Q9BZL4	PP12C_HUMAN	0	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	2	436	-	T	T			Silent	140			ANK 2.			
PPP1R12C	0	broad.mit.edu	GRCh37	19	55603589	55603589	+	splice_donor_variant	Splice_Site	SNP	C	C	G			TCGA-41-3392-01	TCGA-41-3392-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263433.3:c.2160+1G>C		p.X720_splice	ENST00000263433	NM_017607.3			0			1			G		uc002qix.2	protein_coding	YES	CCDS12916.1			2160/2349									ovary(1)|central_nervous_system(1)	2	c.e19+1				protein phosphatase 1, regulatory subunit 12C				ENSP00000263433											COSM3404632		.		ENST00000263433	Transcript				cytoplasm		ENSG00000125503	g.chr19:55603589C>G	14947			HIGH	19/21							--	--	1																																		PPP1R12C_uc010yfs.1_Splice_Site_p.Q645_splice|PPP1R12C_uc002qiy.2_Splice_Site_p.Q718_splice	1	1			p.Q720_splice	NM_017607	NP_060077			1	PP12C_HUMAN	PPP1R12C	HGNC	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)			19	2176	-			UPI000006FEE1						SNV	PPP1R12C,splice_donor_variant,,ENST00000263433,NM_017607.3,NM_001271618.1;PPP1R12C,splice_donor_variant,,ENST00000376393,;PPP1R12C,splice_donor_variant,,ENST00000435544,;PPP1R12C,splice_donor_variant,,ENST00000592993,;PPP1R12C,splice_donor_variant,,ENST00000591938,;EPS8L1,downstream_gene_variant,,ENST00000201647,NM_133180.2;EPS8L1,downstream_gene_variant,,ENST00000540810,;EPS8L1,downstream_gene_variant,,ENST00000245618,NM_017729.3;EPS8L1,downstream_gene_variant,,ENST00000586329,;EPS8L1,downstream_gene_variant,,ENST00000588359,;EPS8L1,downstream_gene_variant,,ENST00000587901,;PPP1R12C,splice_donor_variant,,ENST00000590268,;EPS8L1,downstream_gene_variant,,ENST00000592102,;EPS8L1,downstream_gene_variant,,ENST00000589362,;PPP1R12C,downstream_gene_variant,,ENST00000592754,;EPS8L1,downstream_gene_variant,,ENST00000587715,;PPP1R12C,downstream_gene_variant,,ENST00000586197,;PPP1R12C,downstream_gene_variant,,ENST00000588277,;	uc002qix.2	c.2160_splice	-/2924	5	3			c.2160_splice						19	SNP	c.e19+1	6	6			ovary(1)|central_nervous_system(1)	2	Broad	protein phosphatase 1, regulatory subunit 12C			55603589		0.721	ENSG00000125503	12155	g.chr19:55603589C>G		cytoplasm								5.443301	KEEP	0	2	-1	5	5	0	2	-1	6.489325	5	5	0.181818	1	0	0	0	0	0	0	0	1	--	--		0	G			PPP1R12C_uc010yfs.1_Splice_Site_p.Q645_splice|PPP1R12C_uc002qiy.2_Splice_Site_p.Q718_splice	254	GBM-41-3392-TP	p.Q720_splice	C	GGCGCCCTTACCTGCGTGGCC	NM_017607	NP_060077	55603589	Q9BZL4	PP12C_HUMAN	0	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	19	2176	-	G	G			Splice_Site							
PPP1R14C	0	broad.mit.edu	GRCh37	6	150464589	150464589	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-1450-01	TCGA-14-1450-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361131.4:c.261G>A	p.Leu87=	p.L87=	ENST00000361131	NM_030949.2	87	ctG/ctA	0			1			A	L	uc003qnt.2	protein_coding	YES	CCDS5226.1			261/498										0	c.(259-261)CTG>CTA			hmmpanther:PTHR16188:SF6,hmmpanther:PTHR16188,Gene3D:1j2mA00,Pfam_domain:PF05361,Superfamily_domains:0039331	protein phosphatase 1, regulatory (inhibitor)				ENSP00000355260		4-Jan									COSM3410659	4-Jan	.		ENST00000361131	Transcript			regulation of phosphorylation	cytoplasm|membrane		ENSG00000198729	g.chr6:150464589G>A	14952			LOW								--	--	1																																			1	1			p.L87L	NM_030949	NP_112211			1	PP14C_HUMAN	PPP1R14C	HGNC	Q8TAE6	PP14C_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)			1	402	+		Ovarian(120;0.0284)	UPI0000071936	87					SNV	PPP1R14C,synonymous_variant,p.=,ENST00000361131,NM_030949.2;	uc003qnt.2	c.261G>A	378/2152	1	1			c.261G>A						6	SNP	c.(259-261)CTG>CTA	55	55				0	Broad	protein phosphatase 1, regulatory (inhibitor)			150464589		0.637	ENSG00000198729	12160	g.chr6:150464589G>A	regulation of phosphorylation	cytoplasm|membrane		Melanoma(165;1879 1941 2052 16588 48349)			Melanoma(165;1879 1941 2052 16588 48349)			51.469063	KEEP	11	8	-1	12	10	11	8	-1	51.560927	12	10	0.447368	1	0	0	0	0	0	0	1	0	--	--		0	A				145	GBM-14-1450-TP	p.L87L	G	GGCTGGTGCTGGAGGAATGGA	NM_030949	NP_112211	150464589	Q8TAE6	PP14C_HUMAN	0	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)	1	402	+	A	A		Ovarian(120;0.0284)	Silent	87						
PPP1R16A	84988	broad.mit.edu	GRCh37	8	145726654	145726654	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0125-01	TCGA-06-0125-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000292539.4:c.1180G>C	p.Glu394Gln	p.E394Q	ENST00000292539		394	Gag/Cag	0			1			C	E/Q	uc003zdd.2	protein_coding	YES	CCDS6429.1			1180/1587										0	c.(1180-1182)GAG>CAG			Low_complexity_(Seg):seg,hmmpanther:PTHR24142,PIRSF_domain:PIRSF038159	protein phosphatase 1, regulatory (inhibitor)				ENSP00000292539		11-Oct									COSM3412867	11-Oct	.		ENST00000292539	Transcript				plasma membrane	protein binding	ENSG00000160972	g.chr8:145726654G>C	14941			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=PP16A_HUMAN&rb=296&re=410&var=E394Q	NA	getma.org/?cm=var&var=hg19,8,145726654,G,C&fts=all	E394Q	--	--	1																																		uc003zde.1_5'Flank|PPP1R16A_uc003zdf.2_Missense_Mutation_p.E394Q|GPT_uc011lli.1_5'Flank|GPT_uc011llj.1_5'Flank|GPT_uc003zdh.3_5'Flank	1	1		benign(0.19)	p.E394Q	NM_032902	NP_116291		tolerated(0.08)	1	PP16A_HUMAN	PPP1R16A	HGNC	Q96I34	PP16A_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)				10	2093	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		UPI0000132057	394					SNV	PPP1R16A,missense_variant,p.Glu394Gln,ENST00000292539,;PPP1R16A,missense_variant,p.Glu394Gln,ENST00000435887,NM_032902.5;PPP1R16A,missense_variant,p.Glu62Gln,ENST00000528430,;GPT,upstream_gene_variant,,ENST00000394955,NM_005309.2;GPT,upstream_gene_variant,,ENST00000528431,;CTD-2517M22.14,intron_variant,,ENST00000527086,;CTD-2517M22.14,upstream_gene_variant,,ENST00000532766,;PPP1R16A,downstream_gene_variant,,ENST00000529009,;PPP1R16A,downstream_gene_variant,,ENST00000529283,;PPP1R16A,downstream_gene_variant,,ENST00000533088,;PPP1R16A,downstream_gene_variant,,ENST00000533829,;PPP1R16A,non_coding_transcript_exon_variant,,ENST00000526183,;CTD-2517M22.14,intron_variant,,ENST00000528690,;CTD-2517M14.5,upstream_gene_variant,,ENST00000569326,;CTD-2517M22.14,upstream_gene_variant,,ENST00000528207,;GPT,upstream_gene_variant,,ENST00000527165,;GPT,upstream_gene_variant,,ENST00000534702,;PPP1R16A,downstream_gene_variant,,ENST00000532806,;PPP1R16A,downstream_gene_variant,,ENST00000526564,;GPT,upstream_gene_variant,,ENST00000354769,;GPT,upstream_gene_variant,,ENST00000531330,;GPT,upstream_gene_variant,,ENST00000527961,;	uc003zdd.2	c.1180G>C	2097/2722	3	3			c.1180G>C						8	SNP	c.(1180-1182)GAG>CAG	12	12				0	Broad	protein phosphatase 1, regulatory (inhibitor)			145726654		0.736	ENSG00000160972	12164	g.chr8:145726654G>C		plasma membrane	protein binding							5.3433	KEEP	1	1	-1	5	6	1	1	-1	6.389336	5	6	0.181818	1	0	0	0	0	1	0	0	0	--	--		0	C			uc003zde.1_5'Flank|PPP1R16A_uc003zdf.2_Missense_Mutation_p.E394Q|GPT_uc011lli.1_5'Flank|GPT_uc011llj.1_5'Flank|GPT_uc003zdh.3_5'Flank	12	GBM-06-0125-TP	p.E394Q	G	GACAGGCGCAGAGCTCAGGCC	NM_032902	NP_116291	145726654	Q96I34	PP16A_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		10	2093	+	C	C	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	394						
PPP1R16B	26051	broad.mit.edu	GRCh37	20	37534721	37534721	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299824.1:c.806C>T	p.Ala269Val	p.A269V	ENST00000299824	NM_015568.2	269	gCt/gTt	0			1			T	A/V	uc002xje.2	protein_coding	YES	CCDS13309.1			806/1704									upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3	c.(805-807)GCT>GTT			Gene3D:1.25.40.20,Pfam_domain:PF12796,PIRSF_domain:PIRSF038159,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24186,SMART_domains:SM00248,Superfamily_domains:SSF48403	protein phosphatase 1 regulatory inhibitor				ENSP00000299824		11-Jul									COSM2149074	11-Jul	.		ENST00000299824	Transcript			regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	ENSG00000101445	g.chr20:37534721C>T	15850			MODERATE		2.535	medium	getma.org/?cm=msa&ty=f&p=PP16B_HUMAN&rb=261&re=293&var=A269V	getma.org/pdb.php?prot=PP16B_HUMAN&from=261&to=293&var=A269V	getma.org/?cm=var&var=hg19,20,37534721,C,T&fts=all	A269V	--	--	1																																		PPP1R16B_uc010ggc.2_Intron	1	1		probably_damaging(0.999)	p.A269V	NM_015568	NP_056383		deleterious(0)	1	PP16B_HUMAN	PPP1R16B	HGNC	Q96T49	PP16B_HUMAN					7	995	+		Myeloproliferative disorder(115;0.00878)	UPI0000132059	269			ANK 4.		SNV	PPP1R16B,missense_variant,p.Ala269Val,ENST00000299824,NM_015568.2;PPP1R16B,intron_variant,,ENST00000373331,NM_001172735.1;	uc002xje.2	c.806C>T	995/6251	2	2			c.806C>T						20	SNP	c.(805-807)GCT>GTT	44	44			upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3	Broad	protein phosphatase 1 regulatory inhibitor			37534721		0.607	ENSG00000101445	12165	g.chr20:37534721C>T	regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding							53.561566	KEEP	14	11	-1	27	40	14	11	-1	57.588616	27	40	0.25974	1	0	0	0	0	1	0	0	0	--	--		0	T			PPP1R16B_uc010ggc.2_Intron	5	GBM-02-2470-TP	p.A269V	C	CTGCATGCAGCTGCCTTCTGG	NM_015568	NP_056383	37534721	Q96T49	PP16B_HUMAN	0			7	995	+	T	T		Myeloproliferative disorder(115;0.00878)	Missense_Mutation	269			ANK 4.			
PPP1R16B	0	broad.mit.edu	GRCh37	20	37547256	37547256	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01	TCGA-14-0813-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299824.1:c.1651G>A	p.Ala551Thr	p.A551T	ENST00000299824	NM_015568.2	551	Gcc/Acc	0			1			A	A/T	uc002xje.2	protein_coding	YES	CCDS13309.1			1651/1704									upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3	c.(1651-1653)GCC>ACC			PIRSF_domain:PIRSF038159,hmmpanther:PTHR24186	protein phosphatase 1 regulatory inhibitor				ENSP00000299824		11-Nov									COSM2154681	11-Nov	.		ENST00000299824	Transcript			regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	ENSG00000101445	g.chr20:37547256G>A	15850			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=PP16B_HUMAN&rb=362&re=565&var=A551T	NA	getma.org/?cm=var&var=hg19,20,37547256,G,A&fts=all	A551T	--	--	1																																		PPP1R16B_uc010ggc.2_Missense_Mutation_p.A509T	1	1		possibly_damaging(0.49)	p.A551T	NM_015568	NP_056383		deleterious(0)	1	PP16B_HUMAN	PPP1R16B	HGNC	Q96T49	PP16B_HUMAN					11	1840	+		Myeloproliferative disorder(115;0.00878)	UPI0000132059	551			ANK 5.		SNV	PPP1R16B,missense_variant,p.Ala551Thr,ENST00000299824,NM_015568.2;PPP1R16B,missense_variant,p.Ala509Thr,ENST00000373331,NM_001172735.1;	uc002xje.2	c.1651G>A	1840/6251	1	1			c.1651G>A						20	SNP	c.(1651-1653)GCC>ACC	51	51			upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3	Broad	protein phosphatase 1 regulatory inhibitor			37547256		0.577	ENSG00000101445	12165	g.chr20:37547256G>A	regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding							75.930859	KEEP	25	6	-1	26	21	25	6	-1	76.909058	26	21	0.375	1	0	0	0	0	1	0	0	0	--	--		0	A			PPP1R16B_uc010ggc.2_Missense_Mutation_p.A509T	138	GBM-14-0813-TP	p.A551T	G	AAAGTTCAAGGCCCCCATAGA	NM_015568	NP_056383	37547256	Q96T49	PP16B_HUMAN	0			11	1840	+	A	A		Myeloproliferative disorder(115;0.00878)	Missense_Mutation	551			ANK 5.			
PPP1R21	0	broad.mit.edu	GRCh37	2	48692078	48692078	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G			TCGA-28-5208-01	TCGA-28-5208-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294952.8:c.697T>G	p.Tyr233Asp	p.Y233D	ENST00000294952	NM_001135629.2	233	Tat/Gat	0			1			G	Y/D	uc002rwm.2	protein_coding	YES	CCDS46278.1			697/2343									ovary(1)	1	c.(697-699)TAT>GAT			hmmpanther:PTHR21448	KLRAQ motif containing 1 isoform 1				ENSP00000294952		22-Aug									COSM3407881,COSM3407880	22-Aug	.		ENST00000294952	Transcript						ENSG00000162869	g.chr2:48692078T>G	30595			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=PPR21_HUMAN&rb=201&re=400&var=Y233D	NA	getma.org/?cm=var&var=hg19,2,48692078,T,G&fts=all	Y233D	--	--	1																																		KLRAQ1_uc002rwi.1_Missense_Mutation_p.Y233D|KLRAQ1_uc002rwj.2_Missense_Mutation_p.Y233D|KLRAQ1_uc002rwl.2_Missense_Mutation_p.Y187D|KLRAQ1_uc002rwk.2_Missense_Mutation_p.Y233D|KLRAQ1_uc010yok.1_Missense_Mutation_p.Y233D	1,1	1		benign(0.04)	p.Y233D	NM_001135629	NP_001129101		tolerated(0.2)	1,1	PPR21_HUMAN	PPP1R21	HGNC	Q6ZMI0	KLRAQ_HUMAN			F8W7E1_HUMAN		8	882	+			UPI000015C523	233					SNV	PPP1R21,missense_variant,p.Tyr233Asp,ENST00000294952,NM_001135629.2;PPP1R21,missense_variant,p.Tyr233Asp,ENST00000281394,NM_001193475.1,NM_152994.4;PPP1R21,missense_variant,p.Tyr233Asp,ENST00000449090,;PPP1R21,splice_region_variant,,ENST00000416913,;PPP1R21,splice_region_variant,,ENST00000431614,;PPP1R21,upstream_gene_variant,,ENST00000460299,;	uc002rwm.2	c.697T>G	854/3142	3	3			c.697T>G						2	SNP	c.(697-699)TAT>GAT	63	63			ovary(1)	1	Broad	KLRAQ motif containing 1 isoform 1			48692078		0.318	ENSG00000162869	8270	g.chr2:48692078T>G										183.726724	KEEP	30	24	-1	47	46	30	24	-1	185.425442	47	46	0.378788	1	0	0	0	0	1	0	0	0	--	--		0	G			KLRAQ1_uc002rwi.1_Missense_Mutation_p.Y233D|KLRAQ1_uc002rwj.2_Missense_Mutation_p.Y233D|KLRAQ1_uc002rwl.2_Missense_Mutation_p.Y187D|KLRAQ1_uc002rwk.2_Missense_Mutation_p.Y233D|KLRAQ1_uc010yok.1_Missense_Mutation_p.Y233D	217	GBM-28-5208-TP	p.Y233D	T	TTCTGTAGAATATAGTCAGTA	NM_001135629	NP_001129101	48692078	Q6ZMI0	KLRAQ_HUMAN	0			8	882	+	G	G			Missense_Mutation	233						
PPP1R26	9858	broad.mit.edu	GRCh37	9	138377609	138377609	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-02-2486-01	TCGA-02-2486-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356818.2:c.1253C>A	p.Thr418Asn	p.T418N	ENST00000356818	NM_014811.3	418	aCc/aAc	0			1			A	T/N	uc004cfr.1	protein_coding	YES	CCDS6988.1			1253/3630									ovary(2)|central_nervous_system(1)	3	c.(1252-1254)ACC>AAC			hmmpanther:PTHR15724	1A6/DRIM (down-regulated in metastasis)				ENSP00000349274		4-Apr									COSM3413443	4-Apr	.		ENST00000356818	Transcript				nucleolus	protein binding	ENSG00000196422	g.chr9:138377609C>A	29089			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=PPR26_HUMAN&rb=401&re=600&var=T418N	NA	getma.org/?cm=var&var=hg19,9,138377609,C,A&fts=all	T418N	--	--	1																																			1	1		possibly_damaging(0.895)	p.T418N	NM_014811	NP_055626		tolerated(0.18)	1	PPR26_HUMAN	PPP1R26	HGNC	Q5T8A7	K0649_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)	Q5T8A6_HUMAN		4	1802	+			UPI000013DB17	418					SNV	PPP1R26,missense_variant,p.Thr418Asn,ENST00000356818,NM_014811.3;PPP1R26,missense_variant,p.Thr418Asn,ENST00000401470,;PPP1R26,missense_variant,p.Thr418Asn,ENST00000605286,;PPP1R26,missense_variant,p.Thr418Asn,ENST00000604351,;PPP1R26,missense_variant,p.Thr418Asn,ENST00000605660,;PPP1R26-AS1,upstream_gene_variant,,ENST00000455039,;PPP1R26,intron_variant,,ENST00000602993,;	uc004cfr.1	c.1253C>A	1802/4932	2	2			c.1253C>A						9	SNP	c.(1252-1254)ACC>AAC	23	23			ovary(2)|central_nervous_system(1)	3	Broad	1A6/DRIM (down-regulated in metastasis)			138377609		0.622	ENSG00000196422	8048	g.chr9:138377609C>A		nucleolus	protein binding							85.115961	KEEP	19	12	0.387096774	24	33	19	12	0.387096774	86.029907	24	33	0.384615	1	0	0	0	0	1	0	0	0	--	--		0	A				8	GBM-02-2486-TP	p.T418N	C	TTGCCCGAGACCCACAGGAAA	NM_014811	NP_055626	138377609	Q5T8A7	K0649_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)	4	1802	+	A	A			Missense_Mutation	418						
PPP1R3A	0	broad.mit.edu	GRCh37	7	113558442	113558442	+	stop_gained	Nonsense_Mutation	SNP	T	T	A			TCGA-12-0821-01	TCGA-12-0821-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284601.3:c.610A>T	p.Lys204Ter	p.K204*	ENST00000284601	NM_002711.3	204	Aaa/Taa	0			1			A	K/*	uc010ljy.1	protein_coding	YES	CCDS5759.1			610/3369									lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34	c.(610-612)AAA>TAA			PROSITE_profiles:PS51159,hmmpanther:PTHR12307,hmmpanther:PTHR12307:SF2,Pfam_domain:PF03370	protein phosphatase 1, regulatory (inhibitor)				ENSP00000284601		4-Jan									COSM3411492,COSM3411491	4-Jan	.		ENST00000284601	Transcript	1		glycogen metabolic process	integral to membrane		ENSG00000154415	g.chr7:113558442T>A	9291			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,113558442,T,A&fts=all	K204*	--	--	1																																			1,1	1			p.K204*	NM_002711	NP_002702			1,1	PPR3A_HUMAN	PPP1R3A	HGNC	Q16821	PPR3A_HUMAN			C9JZB3_HUMAN		1	641	-			UPI000013DDAA	204			CBM21.		SNV	PPP1R3A,stop_gained,p.Lys204Ter,ENST00000284601,NM_002711.3;PPP1R3A,intron_variant,,ENST00000449795,;PPP1R3A,intron_variant,,ENST00000284602,;	uc010ljy.1	c.610A>T	679/4384	5	1			c.610A>T						7	SNP	c.(610-612)AAA>TAA	50	50			lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34	Broad	protein phosphatase 1, regulatory (inhibitor)			113558442		0.318	ENSG00000154415	12170	g.chr7:113558442T>A	glycogen metabolic process	integral to membrane				235			235	219.698515	KEEP	73	23	-1	141	86	73	23	-1	230.140863	141	86	0.29682	1	0	0	0	0	0	1	0	0	--	--		0	A				123	GBM-12-0821-TP	p.K204*	T	AACTCAACTTTACTGCCATCT	NM_002711	NP_002702	113558442	Q16821	PPR3A_HUMAN	0			1	641	-	A	A			Nonsense_Mutation	204			CBM21.			
PPP1R3A	0	broad.mit.edu	GRCh37	7	113519263	113519263	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-12-1597-01	TCGA-12-1597-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284601.3:c.1884T>C	p.Asn628=	p.N628=	ENST00000284601	NM_002711.3	628	aaT/aaC	0			1			G	N	uc010ljy.1	protein_coding	YES	CCDS5759.1			1884/3369									lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34	c.(1882-1884)AAT>AAC			hmmpanther:PTHR12307,hmmpanther:PTHR12307:SF2	protein phosphatase 1, regulatory (inhibitor)				ENSP00000284601		4-Apr									COSM3411486,COSM3411485	4-Apr	.		ENST00000284601	Transcript	1		glycogen metabolic process	integral to membrane		ENSG00000154415	g.chr7:113519263A>G	9291			LOW								--	--	1																																			1,1	1			p.N628N	NM_002711	NP_002702			1,1	PPR3A_HUMAN	PPP1R3A	HGNC	Q16821	PPR3A_HUMAN			C9JZB3_HUMAN		4	1915	-			UPI000013DDAA	628					SNV	PPP1R3A,synonymous_variant,p.=,ENST00000284601,NM_002711.3;PPP1R3A,downstream_gene_variant,,ENST00000449795,;PPP1R3A,downstream_gene_variant,,ENST00000284602,;	uc010ljy.1	c.1884T>C	1953/4384	4	4			c.1884T>C						7	SNP	c.(1882-1884)AAT>AAC	17	17			lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34	Broad	protein phosphatase 1, regulatory (inhibitor)			113519263		0.388	ENSG00000154415	12170	g.chr7:113519263A>G	glycogen metabolic process	integral to membrane				235			235	192.402666	KEEP	31	37	-1	103	70	31	37	-1	201.9018	103	70	0.288136	1	0	0	0	0	0	0	1	0	--	--		0	G				124	GBM-12-1597-TP	p.N628N	A	AAAGATAATCATTCCTCAAAA	NM_002711	NP_002702	113519263	Q16821	PPR3A_HUMAN	0			4	1915	-	G	G			Silent	628						
PPP1R3A	0	broad.mit.edu	GRCh37	7	113558410	113558410	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-19-1790-01	TCGA-19-1790-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284601.3:c.642T>G	p.Ser214=	p.S214=	ENST00000284601	NM_002711.3	214	tcT/tcG	0			1			C	S	uc010ljy.1	protein_coding	YES	CCDS5759.1			642/3369									lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34	c.(640-642)TCT>TCG			PROSITE_profiles:PS51159,hmmpanther:PTHR12307,hmmpanther:PTHR12307:SF2,Pfam_domain:PF03370	protein phosphatase 1, regulatory (inhibitor)				ENSP00000284601		4-Jan									COSM3411490,COSM3411489	4-Jan	.		ENST00000284601	Transcript	1		glycogen metabolic process	integral to membrane		ENSG00000154415	g.chr7:113558410A>C	9291			LOW								--	--	1																																			1,1	1			p.S214S	NM_002711	NP_002702			1,1	PPR3A_HUMAN	PPP1R3A	HGNC	Q16821	PPR3A_HUMAN			C9JZB3_HUMAN		1	673	-			UPI000013DDAA	214			CBM21.		SNV	PPP1R3A,synonymous_variant,p.=,ENST00000284601,NM_002711.3;PPP1R3A,intron_variant,,ENST00000449795,;PPP1R3A,intron_variant,,ENST00000284602,;	uc010ljy.1	c.642T>G	711/4384	3	3			c.642T>G						7	SNP	c.(640-642)TCT>TCG	64	64			lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34	Broad	protein phosphatase 1, regulatory (inhibitor)			113558410		0.353	ENSG00000154415	12170	g.chr7:113558410A>C	glycogen metabolic process	integral to membrane				235			235	83.461323	KEEP	22	17	-1	85	82	22	17	-1	99.977627	85	82	0.194737	1	0	0	0	0	0	0	1	0	--	--		0	C				160	GBM-19-1790-TP	p.S214S	A	ATGTACCAACAGAAGTTTCAT	NM_002711	NP_002702	113558410	Q16821	PPR3A_HUMAN	0			1	673	-	C	C			Silent	214			CBM21.			
PPP1R3A	0	broad.mit.edu	GRCh37	7	113518248	113518248	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-27-1830-01	TCGA-27-1830-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284601.3:c.2899C>A	p.Pro967Thr	p.P967T	ENST00000284601	NM_002711.3	967	Cct/Act	0			1			T	P/T	uc010ljy.1	protein_coding	YES	CCDS5759.1			2899/3369									lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34	c.(2899-2901)CCT>ACT				protein phosphatase 1, regulatory (inhibitor)				ENSP00000284601		4-Apr									COSM3411483,COSM3411482	4-Apr	.		ENST00000284601	Transcript	1		glycogen metabolic process	integral to membrane		ENSG00000154415	g.chr7:113518248G>T	9291			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=PPR3A_HUMAN&rb=241&re=1120&var=P967T	NA	getma.org/?cm=var&var=hg19,7,113518248,G,T&fts=all	P967T	--	--	1																																			1,1	1		benign(0.005)	p.P967T	NM_002711	NP_002702		tolerated(0.39)	1,1	PPR3A_HUMAN	PPP1R3A	HGNC	Q16821	PPR3A_HUMAN			C9JZB3_HUMAN		4	2930	-			UPI000013DDAA	967					SNV	PPP1R3A,missense_variant,p.Pro967Thr,ENST00000284601,NM_002711.3;PPP1R3A,downstream_gene_variant,,ENST00000449795,;PPP1R3A,downstream_gene_variant,,ENST00000284602,;	uc010ljy.1	c.2899C>A	2968/4384	2	2			c.2899C>A						7	SNP	c.(2899-2901)CCT>ACT	32	32			lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34	Broad	protein phosphatase 1, regulatory (inhibitor)			113518248		0.383	ENSG00000154415	12170	g.chr7:113518248G>T	glycogen metabolic process	integral to membrane				235			235	-42.630205	KEEP	3	8	0.272727273	151	144	3	8	0.272727273	21.426046	151	144	0.039286	1	0	0	0	0	1	0	0	0	--	--		0	T				189	GBM-27-1830-TP	p.P967T	G	TCAGGATAAGGGTGCTTCTCA	NM_002711	NP_002702	113518248	Q16821	PPR3A_HUMAN	0			4	2930	-	T	T			Missense_Mutation	967						
PPP1R3A	5506		GRCh37	7	113558926	113558926	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000284601.3:c.126T>G	p.Ser42Arg	p.S42R	ENST00000284601	NM_002711.3	42	agT/agG	0																																																																																																																																																																																																																																												
PPP1R3B	79660	broad.mit.edu	GRCh37	8	8998667	8998667	+	synonymous_variant	Silent	SNP	C	C	T	rs138887555		TCGA-06-0210-01	TCGA-06-0210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310455.3:c.495G>A	p.Thr165=	p.T165=	ENST00000310455	NM_024607.3	165	acG/acA	0	T:0		1			T	T	uc003wsn.3	protein_coding	YES	CCDS5973.1			495/858									ovary(1)|skin(1)	2	c.(493-495)ACG>ACA			Pfam_domain:PF03370,PIRSF_domain:PIRSF038207,PIRSF_domain:PIRSF500814,PROSITE_profiles:PS51159,hmmpanther:PTHR12307,hmmpanther:PTHR12307:SF13	protein phosphatase 1, regulatory (inhibitor)			T:0.0001	ENSP00000308318		2-Feb									rs138887555,COSM3413154	2-Feb	.		ENST00000310455	Transcript			glycogen metabolic process			ENSG00000173281	g.chr8:8998667C>T	14942			LOW								--	--	1																																		PPP1R3B_uc003wso.3_Silent_p.T164T	0,1	1			p.T165T	NM_024607	NP_078883			0,1	PPR3B_HUMAN	PPP1R3B	HGNC	Q86XI6	PPR3B_HUMAN		COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)			2	660	-			UPI000000DA40	165			CBM21.		SNV	PPP1R3B,synonymous_variant,p.=,ENST00000310455,NM_024607.3,NM_001201329.1;PPP1R3B,synonymous_variant,p.=,ENST00000519699,;RP11-10A14.3,upstream_gene_variant,,ENST00000520017,;RP11-10A14.3,upstream_gene_variant,,ENST00000522057,;	uc003wsn.3	c.495G>A	646/5548	1	1			c.495G>A						8	SNP	c.(493-495)ACG>ACA	13	13			ovary(1)|skin(1)	2	Broad	protein phosphatase 1, regulatory (inhibitor)			8998667		0.502	ENSG00000173281	12171	g.chr8:8998667C>T	glycogen metabolic process									103.628623	KEEP	34	20	-1	126	112	34	20	-1	125.991071	126	112	0.192913	1	0	0	0	0	0	0	1	0	--	--		0	T			PPP1R3B_uc003wso.3_Silent_p.T164T	47	GBM-06-0210-TP	p.T165T	C	AGGTGTCGAACGTCATCCTTA	NM_024607	NP_078883	8998667	Q86XI6	PPR3B_HUMAN	0		COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)	2	660	-	T	T			Silent	165			CBM21.			
PPP1R7	0	broad.mit.edu	GRCh37	2	242105797	242105797	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-2625-01	TCGA-19-2625-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000234038.6:c.760C>G	p.Leu254Val	p.L254V	ENST00000234038	NM_002712.1	254	Ctg/Gtg	0			1			G	L/V	uc002wat.1	protein_coding	YES	CCDS2546.1			760/1083									ovary(3)	3	c.(760-762)CTG>GTG			PROSITE_profiles:PS51450,hmmpanther:PTHR10588,Pfam_domain:PF12799,Gene3D:3.80.10.10,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52058	protein phosphatase 1, regulatory subunit 7				ENSP00000234038		10-Aug									COSM3407747	10-Aug	.		ENST00000234038	Transcript				cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity	ENSG00000115685	g.chr2:242105797C>G	9295			MODERATE		2.78	medium	getma.org/?cm=msa&ty=f&p=PP1R7_HUMAN&rb=233&re=293&var=L254V	NA	getma.org/?cm=var&var=hg19,2,242105797,C,G&fts=all	L254V	--	--	1																																		PPP1R7_uc010fzm.1_Missense_Mutation_p.L238V|PPP1R7_uc002war.2_Missense_Mutation_p.L248V|PPP1R7_uc002was.2_Missense_Mutation_p.L254V|PPP1R7_uc002wau.1_Missense_Mutation_p.L211V|PPP1R7_uc002wav.1_Missense_Mutation_p.L180V	1	1		probably_damaging(1)	p.L254V	NM_002712	NP_002703		deleterious(0)	1	PP1R7_HUMAN	PPP1R7	HGNC	Q15435	PP1R7_HUMAN		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)			8	775	+		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	UPI000006E65A	254			LRR 9.		SNV	PPP1R7,missense_variant,p.Leu254Val,ENST00000234038,NM_002712.1,NM_001282413.1,NM_001282412.1;PPP1R7,missense_variant,p.Leu211Val,ENST00000272983,NM_001282409.1;PPP1R7,missense_variant,p.Leu254Val,ENST00000407025,;PPP1R7,missense_variant,p.Leu229Val,ENST00000450367,;PPP1R7,missense_variant,p.Leu248Val,ENST00000404405,;PPP1R7,missense_variant,p.Leu238Val,ENST00000438799,;PPP1R7,missense_variant,p.Leu254Val,ENST00000406106,NM_001282410.1;PPP1R7,missense_variant,p.Leu195Val,ENST00000423280,;PPP1R7,missense_variant,p.Leu195Val,ENST00000402734,NM_001282414.1;PPP1R7,missense_variant,p.Leu211Val,ENST00000401987,NM_001282411.1;PPP1R7,upstream_gene_variant,,ENST00000415769,;PPP1R7,non_coding_transcript_exon_variant,,ENST00000485630,;PPP1R7,non_coding_transcript_exon_variant,,ENST00000491715,;PPP1R7,non_coding_transcript_exon_variant,,ENST00000479821,;	uc002wat.1	c.760C>G	1234/2386	3	3			c.760C>G						2	SNP	c.(760-762)CTG>GTG	1	1			ovary(3)	3	Broad	protein phosphatase 1, regulatory subunit 7			242105797		0.552	ENSG00000115685	12175	g.chr2:242105797C>G		cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity	NSCLC(62;446 1299 5417 11238 27640)			NSCLC(62;446 1299 5417 11238 27640)			39.504723	KEEP	8	10	-1	18	17	8	10	-1	40.374979	18	17	0.348837	1	0	0	0	0	1	0	0	0	--	--		0	G			PPP1R7_uc010fzm.1_Missense_Mutation_p.L238V|PPP1R7_uc002war.2_Missense_Mutation_p.L248V|PPP1R7_uc002was.2_Missense_Mutation_p.L254V|PPP1R7_uc002wau.1_Missense_Mutation_p.L211V|PPP1R7_uc002wav.1_Missense_Mutation_p.L180V	165	GBM-19-2625-TP	p.L254V	C	CCTGGTGAACCTGCGGGAGCT	NM_002712	NP_002703	242105797	Q15435	PP1R7_HUMAN	0		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)	8	775	+	G	G		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	Missense_Mutation	254			LRR 9.			
PPP1R9A	0	broad.mit.edu	GRCh37	7	94879506	94879506	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-5950-01	TCGA-19-5950-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340694.4:c.2269T>C	p.Tyr757His	p.Y757H	ENST00000340694	NM_001166163.1	757	Tat/Cat	0			1			C	Y/H	uc003unp.2	protein_coding		CCDS34683.1			2269/3297									ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	c.(2269-2271)TAT>CAT			hmmpanther:PTHR16154,hmmpanther:PTHR16154:SF22,Coiled-coils_(Ncoils):Coil	protein phosphatase 1, regulatory (inhibitor)				ENSP00000344524		16-Sep									COSM2156587,COSM2156586	16-Sep	.		ENST00000340694	Transcript				cell junction|synapse|synaptosome	actin binding	ENSG00000158528	g.chr7:94879506T>C	14946			MODERATE		1.765	low	getma.org/?cm=msa&ty=f&p=NEB1_HUMAN&rb=681&re=969&var=Y757H	NA	getma.org/?cm=var&var=hg19,7,94879506,T,C&fts=all	Y757H	--	--	1				HNSCC(28;0.073)																														PPP1R9A_uc010lfj.2_Missense_Mutation_p.Y779H|PPP1R9A_uc011kif.1_Missense_Mutation_p.Y757H|PPP1R9A_uc003unq.2_Missense_Mutation_p.Y757H|PPP1R9A_uc011kig.1_Missense_Mutation_p.Y757H	1,1			possibly_damaging(0.566)	p.Y757H	NM_017650	NP_060120		tolerated(0.08)	1,1	NEB1_HUMAN	PPP1R9A	HGNC	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		C9J730_HUMAN,C9J3G5_HUMAN,B7ZLX4_HUMAN		9	2551	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		UPI00003BF75D	757			Interacts with TGN38 (By similarity).|Potential.		SNV	PPP1R9A,missense_variant,p.Tyr757His,ENST00000289495,NM_001166161.1;PPP1R9A,missense_variant,p.Tyr757His,ENST00000456331,NM_001166162.1;PPP1R9A,missense_variant,p.Tyr757His,ENST00000433881,;PPP1R9A,missense_variant,p.Tyr757His,ENST00000340694,NM_001166163.1,NM_017650.2;PPP1R9A,missense_variant,p.Tyr779His,ENST00000433360,NM_001166160.1;PPP1R9A,missense_variant,p.Tyr757His,ENST00000424654,;	uc003unp.2	c.2269T>C	2551/9689	4	4			c.2269T>C						7	SNP	c.(2269-2271)TAT>CAT	36	36			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	Broad	protein phosphatase 1, regulatory (inhibitor)			94879506		0.373	ENSG00000158528	12177	g.chr7:94879506T>C		cell junction|synapse|synaptosome	actin binding							89.836692	KEEP	13	14	-1	20	26	13	14	-1	90.571635	20	26	0.38806	1	0	0	0	0	1	0	0	0	--	--	HNSCC(28;0.073)	0	C			PPP1R9A_uc010lfj.2_Missense_Mutation_p.Y779H|PPP1R9A_uc011kif.1_Missense_Mutation_p.Y757H|PPP1R9A_uc003unq.2_Missense_Mutation_p.Y757H|PPP1R9A_uc011kig.1_Missense_Mutation_p.Y757H	170	GBM-19-5950-TP	p.Y757H	T	TCAAAGCCAGTATCAGGCCTT	NM_017650	NP_060120	94879506	Q9ULJ8	NEB1_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.0031)		9	2551	+	C	C	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		Missense_Mutation	757			Interacts with TGN38 (By similarity).|Potential.			
PPP1R9A	0	broad.mit.edu	GRCh37	7	94827740	94827740	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-6450-01	TCGA-28-6450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340694.4:c.1834C>T	p.Arg612Cys	p.R612C	ENST00000340694	NM_001166163.1	612	Cgc/Tgc	0	T:0		1			T	R/C	uc003unp.2	protein_coding		CCDS34683.1			1834/3297									ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	c.(1834-1836)CGC>TGC			hmmpanther:PTHR16154,hmmpanther:PTHR16154:SF22,Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	protein phosphatase 1, regulatory (inhibitor)			T:0.0002	ENSP00000344524		16-Jun	0.000214	9.61E-05	0.000173		0.000454	0.000286	0.00111		rs200450439,COSM3748379,COSM3748378	16-Jun	common_variant		ENST00000340694	Transcript				cell junction|synapse|synaptosome	actin binding	ENSG00000158528	g.chr7:94827740C>T	14946			MODERATE		0.585	neutral	getma.org/?cm=msa&ty=f&p=NEB1_HUMAN&rb=601&re=679&var=R612C	NA	getma.org/?cm=var&var=hg19,7,94827740,C,T&fts=all	R612C	--	--	1				HNSCC(28;0.073)																														PPP1R9A_uc010lfj.2_Missense_Mutation_p.R612C|PPP1R9A_uc011kif.1_Missense_Mutation_p.R612C|PPP1R9A_uc003unq.2_Missense_Mutation_p.R612C|PPP1R9A_uc011kig.1_Missense_Mutation_p.R612C	0,1,1			benign(0.176)	p.R612C	NM_017650	NP_060120		deleterious(0)	0,1,1	NEB1_HUMAN	PPP1R9A	HGNC	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		C9J730_HUMAN,C9J3G5_HUMAN,B7ZLX4_HUMAN		6	2116	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		UPI00003BF75D	612			Potential.|Interacts with TGN38 (By similarity).		SNV	PPP1R9A,missense_variant,p.Arg612Cys,ENST00000289495,NM_001166161.1;PPP1R9A,missense_variant,p.Arg612Cys,ENST00000456331,NM_001166162.1;PPP1R9A,missense_variant,p.Arg612Cys,ENST00000433881,;PPP1R9A,missense_variant,p.Arg612Cys,ENST00000340694,NM_001166163.1,NM_017650.2;PPP1R9A,missense_variant,p.Arg612Cys,ENST00000433360,NM_001166160.1;PPP1R9A,missense_variant,p.Arg612Cys,ENST00000424654,;AC002429.5,intron_variant,,ENST00000417881,;	uc003unp.2	c.1834C>T	2116/9689	1	1			c.1834C>T						7	SNP	c.(1834-1836)CGC>TGC	10	10			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	Broad	protein phosphatase 1, regulatory (inhibitor)			94827740		0.448	ENSG00000158528	12177	g.chr7:94827740C>T		cell junction|synapse|synaptosome	actin binding							-26.952901	KEEP	4	1	-1	66	90	4	1	-1	8.018381	66	90	0.033784	1	0	0	0	0	1	0	0	0	--	--	HNSCC(28;0.073)	0	T			PPP1R9A_uc010lfj.2_Missense_Mutation_p.R612C|PPP1R9A_uc011kif.1_Missense_Mutation_p.R612C|PPP1R9A_uc003unq.2_Missense_Mutation_p.R612C|PPP1R9A_uc011kig.1_Missense_Mutation_p.R612C	227	GBM-28-6450-TP	p.R612C	C	ACAGGAGAGGCGCCAGAGAGA	NM_017650	NP_060120	94827740	Q9ULJ8	NEB1_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.0031)		6	2116	+	T	T	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		Missense_Mutation	612			Potential.|Interacts with TGN38 (By similarity).			
PPP2R1B	0	broad.mit.edu	GRCh37	11	111613292	111613292	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-14-1034-01	TCGA-14-1034-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000527614.1:c.1652A>G	p.Asn551Ser	p.N551S	ENST00000527614	NM_001177562.1	551	aAt/aGt	0	C:0.0005		1			C	N/S	uc001plx.1	protein_coding		CCDS8349.1			1652/1806										0	c.(1651-1653)AAT>AGT			Gene3D:1.25.10.10,Pfam_domain:PF13646,PROSITE_profiles:PS50077,hmmpanther:PTHR10648,hmmpanther:PTHR10648:SF9,Superfamily_domains:SSF48371	beta isoform of regulatory subunit A, protein			C:0	ENSP00000437193		13/15	6.59E-05	0.000193	8.67E-05			6.00E-05		6.07E-05	rs367938997,COSM2155218,COSM3397410	13/15	.		ENST00000527614	Transcript					protein binding	ENSG00000137713	g.chr11:111613292T>C	9303			MODERATE		3.375	medium	getma.org/?cm=msa&ty=f&p=2AAB_HUMAN&rb=480&re=601&var=N551S	getma.org/pdb.php?prot=2AAB_HUMAN&from=480&to=601&var=N551S	getma.org/?cm=var&var=hg19,11,111613292,T,C&fts=all	N551S	--	--	1																																		PPP2R1B_uc001plw.1_Missense_Mutation_p.N551S|PPP2R1B_uc010rwi.1_Missense_Mutation_p.N487S|PPP2R1B_uc010rwj.1_Missense_Mutation_p.N390S|PPP2R1B_uc010rwk.1_Missense_Mutation_p.N506S|PPP2R1B_uc010rwl.1_Missense_Mutation_p.N424S	0,1,1			possibly_damaging(0.728)	p.N551S	NM_002716	NP_002707		deleterious(0.01)	0,1,1	2AAB_HUMAN	PPP2R1B	HGNC	P30154	2AAB_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)			13	1736	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	UPI0000169868	551			HEAT 14.		SNV	PPP2R1B,missense_variant,p.Asn551Ser,ENST00000527614,NM_001177562.1,NM_002716.4;PPP2R1B,missense_variant,p.Asn390Ser,ENST00000427203,;PPP2R1B,missense_variant,p.Asn551Ser,ENST00000311129,NM_181699.2;PPP2R1B,missense_variant,p.Asn506Ser,ENST00000341980,;PPP2R1B,missense_variant,p.Asn487Ser,ENST00000426998,NM_181700.1;PPP2R1B,missense_variant,p.Asn424Ser,ENST00000393055,NM_001177563.1;PPP2R1B,missense_variant,p.Asn180Ser,ENST00000531890,;PPP2R1B,3_prime_UTR_variant,,ENST00000534521,;PPP2R1B,non_coding_transcript_exon_variant,,ENST00000529672,;	uc001plx.1	c.1652A>G	1718/5587	4	4			c.1652A>G						11	SNP	c.(1651-1653)AAT>AGT	35	35				0	Broad	beta isoform of regulatory subunit A, protein			111613292		0.368	ENSG00000137713	12182	g.chr11:111613292T>C			protein binding							69.891696	KEEP	17	8	-1	24	36	17	8	-1	73.286004	24	36	0.283951	1	0	0	0	0	1	0	0	0	--	--		0	C			PPP2R1B_uc001plw.1_Missense_Mutation_p.N551S|PPP2R1B_uc010rwi.1_Missense_Mutation_p.N487S|PPP2R1B_uc010rwj.1_Missense_Mutation_p.N390S|PPP2R1B_uc010rwk.1_Missense_Mutation_p.N506S|PPP2R1B_uc010rwl.1_Missense_Mutation_p.N424S	142	GBM-14-1034-TP	p.N551S	T	TTTGGCCACATTGAAGCGAAC	NM_002716	NP_002707	111613292	P30154	2AAB_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)	13	1736	-	C	C		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	Missense_Mutation	551			HEAT 14.			
PPP2R1B	0	broad.mit.edu	GRCh37	11	111631562	111631562	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000527614.1:c.520G>C	p.Val174Leu	p.V174L	ENST00000527614	NM_001177562.1	174	Gtt/Ctt	0			1			G	V/L	uc001plx.1	protein_coding		CCDS8349.1			520/1806										0	c.(520-522)GTT>CTT			Gene3D:1.25.10.10,hmmpanther:PTHR10648,hmmpanther:PTHR10648:SF9,Superfamily_domains:SSF48371	beta isoform of regulatory subunit A, protein				ENSP00000437193		15-Apr									COSM3397411,COSM3397412	15-Apr	.		ENST00000527614	Transcript					protein binding	ENSG00000137713	g.chr11:111631562C>G	9303			MODERATE		0.575	neutral	getma.org/?cm=msa&ty=f&p=2AAB_HUMAN&rb=1&re=177&var=V174L	getma.org/pdb.php?prot=2AAB_HUMAN&from=1&to=177&var=V174L	getma.org/?cm=var&var=hg19,11,111631562,C,G&fts=all	V174L	--	--	1																																		PPP2R1B_uc001plw.1_Missense_Mutation_p.V174L|PPP2R1B_uc010rwi.1_Missense_Mutation_p.V110L|PPP2R1B_uc010rwj.1_Intron|PPP2R1B_uc010rwk.1_Missense_Mutation_p.V174L|PPP2R1B_uc010rwl.1_Intron	1,1			benign(0.003)	p.V174L	NM_002716	NP_002707		tolerated(0.43)	1,1	2AAB_HUMAN	PPP2R1B	HGNC	P30154	2AAB_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)			4	604	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	UPI0000169868	174			HEAT 5.		SNV	PPP2R1B,missense_variant,p.Val174Leu,ENST00000527614,NM_001177562.1,NM_002716.4;PPP2R1B,missense_variant,p.Val174Leu,ENST00000311129,NM_181699.2;PPP2R1B,missense_variant,p.Val174Leu,ENST00000341980,;PPP2R1B,missense_variant,p.Val110Leu,ENST00000426998,NM_181700.1;PPP2R1B,intron_variant,,ENST00000427203,;PPP2R1B,intron_variant,,ENST00000393055,NM_001177563.1;PPP2R1B,downstream_gene_variant,,ENST00000531373,;PPP2R1B,3_prime_UTR_variant,,ENST00000534500,;PPP2R1B,intron_variant,,ENST00000534521,;	uc001plx.1	c.520G>C	586/5587	4	4			c.520G>C						11	SNP	c.(520-522)GTT>CTT	22	22				0	Broad	beta isoform of regulatory subunit A, protein			111631562		0.438	ENSG00000137713	12182	g.chr11:111631562C>G			protein binding							-0.379932	KEEP	0	2	-1	19	18	0	2	-1	6.551052	19	18	0.058824	1	0	0	0	0	1	0	0	0	--	--		0	G			PPP2R1B_uc001plw.1_Missense_Mutation_p.V174L|PPP2R1B_uc010rwi.1_Missense_Mutation_p.V110L|PPP2R1B_uc010rwj.1_Intron|PPP2R1B_uc010rwk.1_Missense_Mutation_p.V174L|PPP2R1B_uc010rwl.1_Intron	160	GBM-19-1790-TP	p.V174L	C	TCTGCTTTAACAGCATTTGAT	NM_002716	NP_002707	111631562	P30154	2AAB_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)	4	604	-	G	G		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	Missense_Mutation	174			HEAT 5.			
PPP2R3A	0	broad.mit.edu	GRCh37	3	135721607	135721607	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264977.3:c.1267G>T	p.Gly423Ter	p.G423*	ENST00000264977	NM_001190447.1	423	Gga/Tga	0			1			T	G/*	uc003eqv.1	protein_coding	YES	CCDS3087.1			1267/3453									ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7	c.(1267-1269)GGA>TGA			hmmpanther:PTHR14095,hmmpanther:PTHR14095:SF3	protein phosphatase 2, regulatory subunit B'',				ENSP00000264977		14-Feb									COSM2156055	14-Feb	.		ENST00000264977	Transcript			protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	ENSG00000073711	g.chr3:135721607G>T	9307			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,3,135721607,G,T&fts=all	G423*	--	--	1																																		PPP2R3A_uc011blz.1_Intron	1	1			p.G423*	NM_002718	NP_002709			1	P2R3A_HUMAN	PPP2R3A	HGNC	Q06190	P2R3A_HUMAN					2	1832	+			UPI0000124EAC	423					SNV	PPP2R3A,stop_gained,p.Gly423Ter,ENST00000264977,NM_001190447.1,NM_002718.4;PPP2R3A,intron_variant,,ENST00000490467,;	uc003eqv.1	c.1267G>T	1884/6795	5	2			c.1267G>T						3	SNP	c.(1267-1269)GGA>TGA	44	44			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7	Broad	protein phosphatase 2, regulatory subunit B'',			135721607		0.358	ENSG00000073711	12187	g.chr3:135721607G>T	protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity							92.060648	KEEP	18	18	0.5	32	43	18	18	0.5	94.941472	32	43	0.32	1	0	0	0	0	0	1	0	0	--	--		0	T			PPP2R3A_uc011blz.1_Intron	160	GBM-19-1790-TP	p.G423*	G	AGAGTCAGATGGAAAGAAAGC	NM_002718	NP_002709	135721607	Q06190	P2R3A_HUMAN	0			2	1832	+	T	T			Nonsense_Mutation	423						
PPP2R5E	5529	broad.mit.edu	GRCh37	14	63858710	63858710	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0145-01	TCGA-06-0145-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337537.3:c.883G>T	p.Asp295Tyr	p.D295Y	ENST00000337537	NM_006246.2	295	Gat/Tat	0			1			A	D/Y	uc001xgd.1	protein_coding	YES	CCDS9758.1			883/1404									ovary(1)	1	c.(883-885)GAT>TAT			Gene3D:1.25.10.10,Pfam_domain:PF01603,PIRSF_domain:PIRSF028043,hmmpanther:PTHR10257,hmmpanther:PTHR10257:SF5,Superfamily_domains:SSF48371	epsilon isoform of regulatory subunit B56,				ENSP00000337641		14-Sep										14-Sep	.		ENST00000337537	Transcript			signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	ENSG00000154001	g.chr14:63858710C>A	9313			MODERATE		3.55	high	getma.org/?cm=msa&ty=f&p=2A5E_HUMAN&rb=47&re=455&var=D295Y	getma.org/pdb.php?prot=2A5E_HUMAN&from=47&to=455&var=D295Y	getma.org/?cm=var&var=hg19,14,63858710,C,A&fts=all	D295Y	--	--	1																																		PPP2R5E_uc010tsf.1_Missense_Mutation_p.D219Y|PPP2R5E_uc010tsg.1_Missense_Mutation_p.D219Y|PPP2R5E_uc001xge.2_Missense_Mutation_p.D295Y|PPP2R5E_uc010tsh.1_Missense_Mutation_p.D295Y|PPP2R5E_uc001xgf.1_RNA		1		probably_damaging(0.999)	p.D295Y	NM_006246	NP_006237		deleterious(0)		2A5E_HUMAN	PPP2R5E	HGNC	Q16537	2A5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)	J3KQN6_HUMAN		9	1473	-			UPI0000124E94	295					SNV	PPP2R5E,missense_variant,p.Asp295Tyr,ENST00000337537,NM_006246.2,NM_001282179.1;PPP2R5E,missense_variant,p.Asp295Tyr,ENST00000555899,NM_001282180.1;PPP2R5E,missense_variant,p.Asp219Tyr,ENST00000422769,NM_001282181.1,NM_001282182.1;PPP2R5E,non_coding_transcript_exon_variant,,ENST00000553266,;PPP2R5E,non_coding_transcript_exon_variant,,ENST00000556484,;PPP2R5E,intron_variant,,ENST00000556150,;	uc001xgd.1	c.883G>T	1486/6659	2	2			c.883G>T						14	SNP	c.(883-885)GAT>TAT	47	47			ovary(1)	1	Broad	epsilon isoform of regulatory subunit B56,			63858710		0.294	ENSG00000154001	12194	g.chr14:63858710C>A	signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity							-2.61594	KEEP	2	1	0.333333333	21	29	2	1	0.333333333	6.688483	21	29	0.06383	1	0	0	0	0	1	0	0	0	--	--		0	A			PPP2R5E_uc010tsf.1_Missense_Mutation_p.D219Y|PPP2R5E_uc010tsg.1_Missense_Mutation_p.D219Y|PPP2R5E_uc001xge.2_Missense_Mutation_p.D295Y|PPP2R5E_uc010tsh.1_Missense_Mutation_p.D295Y|PPP2R5E_uc001xgf.1_RNA	23	GBM-06-0145-TP	p.D295Y	C	AGTGAAGGATCTTTCTCCAGA	NM_006246	NP_006237	63858710	Q16537	2A5E_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)	9	1473	-	A	A			Missense_Mutation	295						
PPP3CB	5532	broad.mit.edu	GRCh37	10	75204531	75204531	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0155-01	TCGA-06-0155-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394829.2:c.1321A>T	p.Met441Leu	p.M441L	ENST00000394829	NM_001142353.1	441	Atg/Ttg	0			1			A	M/L	uc001jue.2	protein_coding		CCDS7328.1			1318/1575									skin(1)	1	c.(1318-1320)ATG>TTG			hmmpanther:PTHR11668,hmmpanther:PTHR11668:SF186,Superfamily_domains:SSF56300	protein phosphatase 3, catalytic subunit, beta				ENSP00000353881		14-Dec									COSM2149978,COSM3397239,COSM2149979	14-Dec	.		ENST00000360663	Transcript						ENSG00000107758	g.chr10:75204531T>A	9315			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=PP2BB_HUMAN&rb=295&re=494&var=M440L	NA	getma.org/?cm=var&var=hg19,10,75204531,T,A&fts=all	M440L	--	--	1																																		PPP3CB_uc001juf.2_Missense_Mutation_p.M441L|PPP3CB_uc001jug.2_Missense_Mutation_p.M441L|PPP3CB_uc001jui.2_Missense_Mutation_p.M458L|PPP3CB_uc001juh.2_Missense_Mutation_p.M355L|PPP3CB_uc010qkj.1_Missense_Mutation_p.M68L	1,1,1			benign(0.002)	p.M440L	NM_021132	NP_066955		tolerated(0.3)	1,1,1	PP2BB_HUMAN	PPP3CB	HGNC	P16298	PP2BB_HUMAN			Q9UMB2_HUMAN,B7Z6P2_HUMAN		12	1453	-	Prostate(51;0.0119)		UPI0000130FD7	440					SNV	PPP3CB,missense_variant,p.Met440Leu,ENST00000360663,;PPP3CB,missense_variant,p.Met441Leu,ENST00000394829,NM_001142353.1,NM_021132.2;PPP3CB,missense_variant,p.Met441Leu,ENST00000394828,NM_001142354.1;PPP3CB,missense_variant,p.Met440Leu,ENST00000342558,;PPP3CB,missense_variant,p.Met355Leu,ENST00000545874,;PPP3CB,missense_variant,p.Met458Leu,ENST00000394822,;PPP3CB,missense_variant,p.Met68Leu,ENST00000544628,;PPP3CB,missense_variant,p.Met103Leu,ENST00000430762,;	uc001jue.2	c.1318A>T	1430/3501	1	1			c.1318A>T						10	SNP	c.(1318-1320)ATG>TTG	59	59			skin(1)	1	Broad	protein phosphatase 3, catalytic subunit, beta			75204531		0.483	ENSG00000107758	12196	g.chr10:75204531T>A						146			146	54.907706	KEEP	7	16	-1	19	22	7	16	-1	56.186544	19	22	0.339286	1	0	0	0	0	1	0	0	0	--	--		0	A			PPP3CB_uc001juf.2_Missense_Mutation_p.M441L|PPP3CB_uc001jug.2_Missense_Mutation_p.M441L|PPP3CB_uc001jui.2_Missense_Mutation_p.M458L|PPP3CB_uc001juh.2_Missense_Mutation_p.M355L|PPP3CB_uc010qkj.1_Missense_Mutation_p.M68L	27	GBM-06-0155-TP	p.M440L	T	CTAGGCAACATCCCTGTGGGA	NM_021132	NP_066955	75204531	P16298	PP2BB_HUMAN	0			12	1453	-	A	A	Prostate(51;0.0119)		Missense_Mutation	440						
PPP3R2	5535	broad.mit.edu	GRCh37	9	104356906	104356906	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0171-01	TCGA-06-0171-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374806.1:c.307G>A	p.Asp103Asn	p.D103N	ENST00000374806	NM_147180.2	103	Gac/Aac	0		T:0.0008	1	T:0		T	D/N	uc004bbr.2	protein_coding	YES	CCDS6759.1			307/522									ovary(1)|skin(1)	2	c.(307-309)GAC>AAC			PROSITE_profiles:PS50222,hmmpanther:PTHR23056:SF29,hmmpanther:PTHR23056,PROSITE_patterns:PS00018,Pfam_domain:PF13499,Gene3D:1.10.238.10,SMART_domains:SM00054,Superfamily_domains:SSF47473	protein phosphatase 3 regulatory subunit B, beta	Cyclosporine(DB00091)	T:0		ENSP00000363939	T:0	1-Jan	1.65E-05	0.000192							rs569559919,COSM2150307	1-Jan	.		ENST00000374806	Transcript		T:0.0002			calcium ion binding	ENSG00000188386	g.chr9:104356906C>T	9318			MODERATE		3.39	medium	getma.org/?cm=msa&ty=f&p=CANB2_HUMAN&rb=91&re=157&var=D100N	getma.org/pdb.php?prot=CANB2_HUMAN&from=91&to=157&var=D100N	getma.org/?cm=var&var=hg19,9,104356906,C,T&fts=all	D100N	--	--	1																																		GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_RNA	0,1	1		probably_damaging(0.952)	p.D103N	NM_147180	NP_671709	T:0	deleterious(0)	0,1	CANB2_HUMAN	PPP3R2	HGNC	Q96LZ3	CANB2_HUMAN					1	378	-		Acute lymphoblastic leukemia(62;0.0527)	UPI0000035DAE	100			EF-hand 3.|3.		SNV	PPP3R2,missense_variant,p.Asp103Asn,ENST00000374806,NM_147180.2;GRIN3A,intron_variant,,ENST00000361820,NM_133445.2;	uc004bbr.2	c.307G>A	378/3387	1	1			c.307G>A						9	SNP	c.(307-309)GAC>AAC	15	15			ovary(1)|skin(1)	2	Broad	protein phosphatase 3 regulatory subunit B, beta		Cyclosporine(DB00091)	104356906		0.532	ENSG00000188386	12199	g.chr9:104356906C>T			calcium ion binding			16			16	176.889299	KEEP	35	34	-1	52	80	35	34	-1	181.096236	52	80	0.338798	1	0	0	0	0	1	0	0	0	--	--		0	T			GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_RNA	35	GBM-06-0171-TP	p.D103N	C	TTATCCATGTCGTAAATGCTG	NM_147180	NP_671709	104356906	Q96LZ3	CANB2_HUMAN	0			1	378	-	T	T		Acute lymphoblastic leukemia(62;0.0527)	Missense_Mutation	100			EF-hand 3.|3.			
PPP4R1	9989	broad.mit.edu	GRCh37	18	9570482	9570482	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-5412-01	TCGA-06-5412-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400556.3:c.1246C>T	p.Gln416Ter	p.Q416*	ENST00000400556	NM_001042388.2	416	Cag/Tag	0			1			A	Q/*	uc002koe.1	protein_coding	YES	CCDS42412.1			1246/2853									skin(1)	1	c.(1246-1248)CAG>TAG			hmmpanther:PTHR10648:SF8,hmmpanther:PTHR10648	protein phosphatase 4, regulatory subunit 1				ENSP00000383402		20-Nov									COSM2153172	20-Nov	.		ENST00000400556	Transcript			protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	ENSG00000154845	g.chr18:9570482G>A	9320			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,18,9570482,G,A&fts=all	Q416*	--	--	1																																		PPP4R1_uc002kof.2_5'UTR|PPP4R1_uc010wzo.1_Nonsense_Mutation_p.Q262*|PPP4R1_uc002kod.1_Nonsense_Mutation_p.Q399*|PPP4R1_uc010wzp.1_RNA	1	1			p.Q416*	NM_001042388	NP_001035847			1	PP4R1_HUMAN	PPP4R1	HGNC	Q8TF05	PP4R1_HUMAN			J3QLA6_HUMAN,J3QL26_HUMAN,J3KSB0_HUMAN,J3KRU1_HUMAN,B4DID3_HUMAN		11	1364	-			UPI000006D6DE	416					SNV	PPP4R1,stop_gained,p.Gln416Ter,ENST00000400556,NM_001042388.2;PPP4R1,stop_gained,p.Gln399Ter,ENST00000400555,NM_005134.3;PPP4R1,upstream_gene_variant,,ENST00000578557,;PPP4R1,3_prime_UTR_variant,,ENST00000285124,;	uc002koe.1	c.1246C>T	1320/3925	5	2			c.1246C>T						18	SNP	c.(1246-1248)CAG>TAG	43	43			skin(1)	1	Broad	protein phosphatase 4, regulatory subunit 1			9570482		0.443	ENSG00000154845	12201	g.chr18:9570482G>A	protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	Melanoma(188;1232 2082 5061 11948 35994)			Melanoma(188;1232 2082 5061 11948 35994)			47.781296	KEEP	11	8	-1	29	41	11	8	-1	53.375404	29	41	0.228916	1	0	0	0	0	0	1	0	0	--	--		0	A			PPP4R1_uc002kof.2_5'UTR|PPP4R1_uc010wzo.1_Nonsense_Mutation_p.Q262*|PPP4R1_uc002kod.1_Nonsense_Mutation_p.Q399*|PPP4R1_uc010wzp.1_RNA	95	GBM-06-5412-TP	p.Q416*	G	GCTGCTTCCTGGTGAGATTCT	NM_001042388	NP_001035847	9570482	Q8TF05	PP4R1_HUMAN	0			11	1364	-	A	A			Nonsense_Mutation	416						
PPP4R2	151987	broad.mit.edu	GRCh37	3	73114106	73114106	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01	TCGA-06-2558-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356692.5:c.742C>T	p.Leu248Phe	p.L248F	ENST00000356692		248	Ctc/Ttc	0			1			T	L/F	uc003dph.1	protein_coding	YES	CCDS2917.1			742/1254									lung(1)	1	c.(742-744)CTC>TTC			Pfam_domain:PF09184,hmmpanther:PTHR16487,hmmpanther:PTHR16487:SF0	protein phosphatase 4, regulatory subunit 2				ENSP00000349124		9-Aug									COSM2152611	9-Aug	.		ENST00000356692	Transcript			mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity	ENSG00000163605	g.chr3:73114106C>T	18296			MODERATE		2.2	medium	getma.org/?cm=msa&ty=f&p=PP4R2_HUMAN&rb=2&re=267&var=L248F	NA	getma.org/?cm=var&var=hg19,3,73114106,C,T&fts=all	L248F	--	--	1																																		PPP4R2_uc003dpi.1_Missense_Mutation_p.L191F	1	1		probably_damaging(1)	p.L248F	NM_174907	NP_777567		deleterious(0.01)	1	PP4R2_HUMAN	PPP4R2	HGNC	Q9NY27	PP4R2_HUMAN		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)	F8WDK3_HUMAN		8	812	+		Prostate(10;0.0187)|Lung SC(41;0.236)	UPI000006F837	248					SNV	PPP4R2,missense_variant,p.Leu248Phe,ENST00000356692,;PPP4R2,missense_variant,p.Leu192Phe,ENST00000295862,NM_174907.2;PPP4R2,missense_variant,p.Leu191Phe,ENST00000394284,;PPP4R2,missense_variant,p.Leu223Phe,ENST00000488810,;PPP4R2,missense_variant,p.Leu80Phe,ENST00000460360,;EBLN2,downstream_gene_variant,,ENST00000533473,NM_018029.3;PPP4R2,3_prime_UTR_variant,,ENST00000482242,;PPP4R2,downstream_gene_variant,,ENST00000470976,;	uc003dph.1	c.742C>T	995/4984	1	1			c.742C>T						3	SNP	c.(742-744)CTC>TTC	9	9			lung(1)	1	Broad	protein phosphatase 4, regulatory subunit 2			73114106		0.433	ENSG00000163605	12202	g.chr3:73114106C>T	mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity							136.343322	KEEP	23	24	-1	41	34	23	24	-1	137.801474	41	34	0.381356	1	0	0	0	0	1	0	0	0	--	--		0	T			PPP4R2_uc003dpi.1_Missense_Mutation_p.L191F	82	GBM-06-2558-TP	p.L248F	C	GGTAAAAAGACTCAGGTTTGA	NM_174907	NP_777567	73114106	Q9NY27	PP4R2_HUMAN	0		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)	8	812	+	T	T		Prostate(10;0.0187)|Lung SC(41;0.236)	Missense_Mutation	248						
PPP4R4	57718	broad.mit.edu	GRCh37	14	94703972	94703972	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0879-01	TCGA-06-0879-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304338.3:c.802C>T	p.Arg268Ter	p.R268*	ENST00000304338	NM_058237.1	268	Cga/Tga	0			1			T	R/*	uc001ycs.1	protein_coding	YES	CCDS9921.1			802/2622									skin(3)|upper_aerodigestive_tract(1)	4	c.(802-804)CGA>TGA			Gene3D:1.25.10.10,PROSITE_profiles:PS50077,hmmpanther:PTHR21467,Superfamily_domains:SSF48371	HEAT-like repeat-containing protein isoform 1				ENSP00000305924		25-Aug									COSM2152308	25-Aug	.		ENST00000304338	Transcript				cytoplasm|protein serine/threonine phosphatase complex	protein binding	ENSG00000119698	g.chr14:94703972C>T	23788			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,14,94703972,C,T&fts=all	R268*	--	--	1																																			1	1			p.R268*	NM_058237	NP_478144			1	PP4R4_HUMAN	PPP4R4	HGNC	Q6NUP7	PP4R4_HUMAN			G3V431_HUMAN,G3V422_HUMAN		8	956	+			UPI000016223B	268			HEAT 2.		SNV	PPP4R4,stop_gained,p.Arg268Ter,ENST00000304338,NM_058237.1;PPP4R4,downstream_gene_variant,,ENST00000556470,;	uc001ycs.1	c.802C>T	956/3868	5	1			c.802C>T						14	SNP	c.(802-804)CGA>TGA	9	9			skin(3)|upper_aerodigestive_tract(1)	4	Broad	HEAT-like repeat-containing protein isoform 1			94703972		0.358	ENSG00000119698	12203	g.chr14:94703972C>T		cytoplasm|protein serine/threonine phosphatase complex	protein binding							239.324189	KEEP	39	53	-1	95	78	39	53	-1	244.435121	95	78	0.345679	1	0	0	0	0	0	1	0	0	--	--		0	T				75	GBM-06-0879-TP	p.R268*	C	CAGCAGTGTACGACTTGCAGC	NM_058237	NP_478144	94703972	Q6NUP7	PP4R4_HUMAN	0			8	956	+	T	T			Nonsense_Mutation	268			HEAT 2.			
PPP4R4	0	broad.mit.edu	GRCh37	14	94700063	94700063	+	stop_gained	Nonsense_Mutation	SNP	T	T	A			TCGA-12-3649-01	TCGA-12-3649-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304338.3:c.590T>A	p.Leu197Ter	p.L197*	ENST00000304338	NM_058237.1	197	tTa/tAa	0			1			A	L/*	uc001ycs.1	protein_coding	YES	CCDS9921.1			590/2622									skin(3)|upper_aerodigestive_tract(1)	4	c.(589-591)TTA>TAA			Gene3D:1.25.10.10,hmmpanther:PTHR21467,Superfamily_domains:SSF48371	HEAT-like repeat-containing protein isoform 1				ENSP00000305924		25-Jun									COSM3401541	25-Jun	.		ENST00000304338	Transcript				cytoplasm|protein serine/threonine phosphatase complex	protein binding	ENSG00000119698	g.chr14:94700063T>A	23788			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,14,94700063,T,A&fts=all	L197*	--	--	1																																			1	1			p.L197*	NM_058237	NP_478144			1	PP4R4_HUMAN	PPP4R4	HGNC	Q6NUP7	PP4R4_HUMAN			G3V431_HUMAN,G3V422_HUMAN		6	744	+			UPI000016223B	197					SNV	PPP4R4,stop_gained,p.Leu197Ter,ENST00000304338,NM_058237.1;PPP4R4,downstream_gene_variant,,ENST00000556470,;PPP4R4,downstream_gene_variant,,ENST00000556884,;PPP4R4,downstream_gene_variant,,ENST00000553661,;PPP4R4,downstream_gene_variant,,ENST00000555690,;	uc001ycs.1	c.590T>A	744/3868	5	1			c.590T>A						14	SNP	c.(589-591)TTA>TAA	56	56			skin(3)|upper_aerodigestive_tract(1)	4	Broad	HEAT-like repeat-containing protein isoform 1			94700063		0.308	ENSG00000119698	12203	g.chr14:94700063T>A		cytoplasm|protein serine/threonine phosphatase complex	protein binding							167.659761	KEEP	30	33	-1	46	69	30	33	-1	170.178561	46	69	0.363636	1	0	0	0	0	0	1	0	0	--	--		0	A				125	GBM-12-3649-TP	p.L197*	T	TGTAAAATTTTAGGAAAATTG	NM_058237	NP_478144	94700063	Q6NUP7	PP4R4_HUMAN	0			6	744	+	A	A			Nonsense_Mutation	197						
PPP6R1	22870	broad.mit.edu	GRCh37	19	55742009	55742009	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0747-01	TCGA-06-0747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000412770.2:c.2614C>A	p.Pro872Thr	p.P872T	ENST00000412770	NM_014931.3	872	Ccg/Acg	0			1			T	P/T	uc002qjw.3	protein_coding	YES	CCDS46186.1			2614/2646										0	c.(2614-2616)CCG>ACG			hmmpanther:PTHR12634,hmmpanther:PTHR12634:SF13	SAPS domain family, member 1				ENSP00000414202		23/24									COSM3404637	23/24	.		ENST00000412770	Transcript			regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding	ENSG00000105063	g.chr19:55742009G>T	29195			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=PP6R1_HUMAN&rb=720&re=881&var=P872T	NA	getma.org/?cm=var&var=hg19,19,55742009,G,T&fts=all	P872T	--	--	1																																		TMEM86B_uc002qjt.2_5'Flank|TMEM86B_uc002qju.2_5'Flank|SAPS1_uc002qjv.2_Missense_Mutation_p.P934T	1	1		benign(0.001)	p.P872T	NM_014931	NP_055746		tolerated_low_confidence(0.31)	1	PP6R1_HUMAN	PPP6R1	HGNC	Q9UPN7	PP6R1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	Q96ID3_HUMAN,K7EM28_HUMAN		23	2856	-		Renal(1328;0.245)	UPI0000202C6D	872			Pro-rich.		SNV	PPP6R1,missense_variant,p.Pro872Thr,ENST00000412770,NM_014931.3;PPP6R1,missense_variant,p.Pro872Thr,ENST00000587283,;AC010327.2,downstream_gene_variant,,ENST00000598855,;TMEM86B,upstream_gene_variant,,ENST00000327042,NM_173804.4;AC010327.1,upstream_gene_variant,,ENST00000581390,;PPP6R1,non_coding_transcript_exon_variant,,ENST00000587457,;TMEM86B,upstream_gene_variant,,ENST00000586923,;TMEM86B,upstream_gene_variant,,ENST00000585416,;TMEM86B,upstream_gene_variant,,ENST00000589190,;	uc002qjw.3	c.2614C>A	3181/3961	2	2			c.2614C>A						19	SNP	c.(2614-2616)CCG>ACG	39	39				0	Broad	SAPS domain family, member 1			55742009		0.677	ENSG00000105063	13616	g.chr19:55742009G>T	regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding							34.209796	KEEP	6	12	0.333333333	7	13	6	12	0.333333333	34.330743	7	13	0.428571	1	0	0	0	0	1	0	0	0	--	--		0	T			TMEM86B_uc002qjt.2_5'Flank|TMEM86B_uc002qju.2_5'Flank|SAPS1_uc002qjv.2_Missense_Mutation_p.P934T	68	GBM-06-0747-TP	p.P872T	G	GGCCCTTCCGGGGCAGAGCCA	NM_014931	NP_055746	55742009	Q9UPN7	PP6R1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	23	2856	-	T	T		Renal(1328;0.245)	Missense_Mutation	872			Pro-rich.			
PPP6R3	0	broad.mit.edu	GRCh37	11	68315674	68315674	+	splice_donor_variant	Splice_Site	SNP	T	T	G			TCGA-12-0692-01	TCGA-12-0692-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393800.2:c.552+2T>G		p.X184_splice	ENST00000393800	NM_001164161.1			0			1			G		uc001onw.2	protein_coding		CCDS53672.1			552/2622										0	c.e5+2				SAPS domain family, member 3 isoform 6				ENSP00000377389											COSM2154312,COSM2154311,COSM2154313		.		ENST00000393800	Transcript			regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	ENSG00000110075	g.chr11:68315674T>G	1173			HIGH	23-May							--	--	1																																		SAPS3_uc010rqb.1_Splice_Site_p.N93_splice|SAPS3_uc001onv.2_Splice_Site_p.N184_splice|SAPS3_uc001ony.3_Splice_Site_p.N184_splice|SAPS3_uc001onx.2_Splice_Site_p.N184_splice|SAPS3_uc009ysh.2_Splice_Site_p.N184_splice|SAPS3_uc001onu.2_Splice_Site_p.N184_splice|SAPS3_uc010rqc.1_Splice_Site_p.N93_splice	1,1,1				p.N184_splice	NM_001164161	NP_001157633			1,1,1	PP6R3_HUMAN	PPP6R3	HGNC	Q5H9R7	PP6R3_HUMAN	LUAD - Lung adenocarcinoma(13;0.102)		Q9H880_HUMAN,E9PNN8_HUMAN,E9PKG4_HUMAN,E9PK08_HUMAN,E9PJD8_HUMAN		5	819	+			UPI00001FADF3						SNV	PPP6R3,splice_donor_variant,,ENST00000393799,;PPP6R3,splice_donor_variant,,ENST00000393800,NM_001164161.1,NM_001164163.1,NM_001164162.1;PPP6R3,splice_donor_variant,,ENST00000393801,NM_001164160.1;PPP6R3,splice_donor_variant,,ENST00000527403,;PPP6R3,splice_donor_variant,,ENST00000265636,NM_018312.4;PPP6R3,splice_donor_variant,,ENST00000265637,;PPP6R3,splice_donor_variant,,ENST00000524904,;PPP6R3,splice_donor_variant,,ENST00000529710,NM_001164164.1;PPP6R3,splice_donor_variant,,ENST00000534534,;PPP6R3,splice_donor_variant,,ENST00000524845,;PPP6R3,splice_donor_variant,,ENST00000529907,;PPP6R3,splice_donor_variant,,ENST00000531244,;PPP6R3,splice_donor_variant,,ENST00000527069,;PPP6R3,splice_donor_variant,,ENST00000525050,;PPP6R3,splice_donor_variant,,ENST00000529172,;	uc001onw.2	c.552_splice	-/5093	5	3			c.552_splice						11	SNP	c.e5+2	8	8				0	Broad	SAPS domain family, member 3 isoform 6			68315674		0.507	ENSG00000110075	13618	g.chr11:68315674T>G	regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding							363.660814	KEEP	71	41	-1	83	54	71	41	-1	364.051716	83	54	0.454955	1	0	0	0	0	0	0	0	1	--	--		0	G			SAPS3_uc010rqb.1_Splice_Site_p.N93_splice|SAPS3_uc001onv.2_Splice_Site_p.N184_splice|SAPS3_uc001ony.3_Splice_Site_p.N184_splice|SAPS3_uc001onx.2_Splice_Site_p.N184_splice|SAPS3_uc009ysh.2_Splice_Site_p.N184_splice|SAPS3_uc001onu.2_Splice_Site_p.N184_splice|SAPS3_uc010rqc.1_Splice_Site_p.N93_splice	122	GBM-12-0692-TP	p.N184_splice	T	GTGCTGAATGTGAGTAGAATT	NM_001164161	NP_001157633	68315674	Q5H9R7	PP6R3_HUMAN	0	LUAD - Lung adenocarcinoma(13;0.102)		5	819	+	G	G			Splice_Site							
PQBP1	0	broad.mit.edu	GRCh37	X	48759746	48759746	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01	TCGA-26-6174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000218224.4:c.529C>T	p.Arg177Cys	p.R177C	ENST00000218224	NM_005710.2	177	Cgc/Tgc	0		T:0	1	T:0		T	R/C	uc004dle.2	protein_coding	YES	CCDS14309.1			529/798									large_intestine(1)	1	c.(529-531)CGC>TGC			Low_complexity_(Seg):seg,hmmpanther:PTHR21737	polyglutamine binding protein 1		T:0		ENSP00000218224	T:0	6-Apr	1.65E-05					2.97E-05		0.00014	rs782634968,COSM1468259	6-Apr	.		ENST00000218224	Transcript	1	T:0.0003	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|transcription coactivator activity	ENSG00000102103	g.chrX:48759746C>T	9330			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=PQBP1_HUMAN&rb=79&re=265&var=R177C	NA	getma.org/?cm=var&var=hg19,X,48759746,C,T&fts=all	R177C	--	--	1																																		PQBP1_uc004dlf.2_Missense_Mutation_p.R177C|PQBP1_uc004dlg.2_Missense_Mutation_p.R177C|PQBP1_uc004dld.2_Intron|PQBP1_uc004dlh.2_Missense_Mutation_p.R177C|PQBP1_uc004dli.2_Missense_Mutation_p.R177C|PQBP1_uc004dlj.1_Missense_Mutation_p.R177C|PQBP1_uc004dln.2_Missense_Mutation_p.R177C|PQBP1_uc010nih.2_RNA|PQBP1_uc010nii.2_Missense_Mutation_p.R135C|PQBP1_uc004dlk.2_Intron|PQBP1_uc004dll.2_Intron|PQBP1_uc004dlm.2_Missense_Mutation_p.R135C|PQBP1_uc010nij.2_Missense_Mutation_p.R77C	0,1	1		probably_damaging(0.951)	p.R177C	NM_001032382	NP_001027554	T:0.001	deleterious(0)	0,1	PQBP1_HUMAN	PQBP1	HGNC	O60828	PQBP1_HUMAN			C9JQA1_HUMAN		5	718	+			UPI0000073DB7	177			Arg-rich.		SNV	PQBP1,missense_variant,p.Arg177Cys,ENST00000218224,NM_005710.2;PQBP1,missense_variant,p.Arg177Cys,ENST00000376563,NM_001167989.1,NM_001032383.1,NM_001032381.1,NM_001032382.1;PQBP1,missense_variant,p.Arg177Cys,ENST00000447146,NM_001167990.1;PQBP1,missense_variant,p.Arg177Cys,ENST00000396763,NM_001032384.1;PQBP1,missense_variant,p.Arg177Cys,ENST00000443648,;PQBP1,intron_variant,,ENST00000376566,NM_144495.2;PQBP1,intron_variant,,ENST00000247140,;PQBP1,intron_variant,,ENST00000456306,;SLC35A2,downstream_gene_variant,,ENST00000376521,NM_001042498.2;SLC35A2,downstream_gene_variant,,ENST00000445167,NM_001032289.1,NM_001282648.1;SLC35A2,downstream_gene_variant,,ENST00000452555,NM_001282651.1;SLC35A2,downstream_gene_variant,,ENST00000247138,NM_005660.1;SLC35A2,downstream_gene_variant,,ENST00000413561,NM_001282649.1;TIMM17B,upstream_gene_variant,,ENST00000396779,NM_001167947.1;SLC35A2,downstream_gene_variant,,ENST00000376515,;TIMM17B,upstream_gene_variant,,ENST00000465150,;TIMM17B,upstream_gene_variant,,ENST00000376582,NM_005834.3;TIMM17B,upstream_gene_variant,,ENST00000495490,;SLC35A2,downstream_gene_variant,,ENST00000446885,;SLC35A2,downstream_gene_variant,,ENST00000376529,NM_001282647.1;TIMM17B,upstream_gene_variant,,ENST00000490755,;SLC35A2,downstream_gene_variant,,ENST00000376512,;PQBP1,downstream_gene_variant,,ENST00000376548,;PQBP1,non_coding_transcript_exon_variant,,ENST00000473764,;PQBP1,non_coding_transcript_exon_variant,,ENST00000463529,;PQBP1,non_coding_transcript_exon_variant,,ENST00000470059,;PQBP1,non_coding_transcript_exon_variant,,ENST00000477997,;PQBP1,non_coding_transcript_exon_variant,,ENST00000474671,;PQBP1,non_coding_transcript_exon_variant,,ENST00000465859,;PQBP1,intron_variant,,ENST00000470062,;PQBP1,intron_variant,,ENST00000472742,;PQBP1,downstream_gene_variant,,ENST00000486150,;TIMM17B,upstream_gene_variant,,ENST00000466995,;TIMM17B,upstream_gene_variant,,ENST00000464663,;	uc004dle.2	c.529C>T	783/1110	2	2			c.529C>T						23	SNP	c.(529-531)CGC>TGC	44	44			large_intestine(1)	1	Broad	polyglutamine binding protein 1			48759746		0.612	ENSG00000102103	12215	g.chrX:48759746C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|transcription coactivator activity							11.296501	KEEP	5	3	-1	24	24	5	3	-1	16.623317	24	24	0.152174	1	0	0	0	0	1	0	0	0	--	--		0	T			PQBP1_uc004dlf.2_Missense_Mutation_p.R177C|PQBP1_uc004dlg.2_Missense_Mutation_p.R177C|PQBP1_uc004dld.2_Intron|PQBP1_uc004dlh.2_Missense_Mutation_p.R177C|PQBP1_uc004dli.2_Missense_Mutation_p.R177C|PQBP1_uc004dlj.1_Missense_Mutation_p.R177C|PQBP1_uc004dln.2_Missense_Mutation_p.R177C|PQBP1_uc010nih.2_RNA|PQBP1_uc010nii.2_Missense_Mutation_p.R135C|PQBP1_uc004dlk.2_Intron|PQBP1_uc004dll.2_Intron|PQBP1_uc004dlm.2_Missense_Mutation_p.R135C|PQBP1_uc010nij.2_Missense_Mutation_p.R77C	188	GBM-26-6174-TP	p.R177C	C	CAAAGAACGGCGCCACCATCG	NM_001032382	NP_001027554	48759746	O60828	PQBP1_HUMAN	0			5	718	+	T	T			Missense_Mutation	177			Arg-rich.			
PQLC3	0	broad.mit.edu	GRCh37	2	11300636	11300636	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01	TCGA-76-6192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295083.3:c.188C>T	p.Pro63Leu	p.P63L	ENST00000295083	NM_152391.3	63	cCg/cTg	0			1			T	P/L	uc002rbc.2	protein_coding	YES	CCDS1679.1			188/609										0	c.(187-189)CCG>CTG			hmmpanther:PTHR12226,hmmpanther:PTHR12226:SF3,Pfam_domain:PF04193,PIRSF_domain:PIRSF023381	PQ loop repeat containing 3 precursor				ENSP00000295083		7-Feb	2.47E-05		8.64E-05			3.00E-05			rs772295244,COSM3406788	7-Feb	.		ENST00000295083	Transcript				integral to membrane		ENSG00000162976	g.chr2:11300636C>T	28503			MODERATE		-1.04	neutral	getma.org/?cm=msa&ty=f&p=PQLC3_HUMAN&rb=5&re=65&var=P63L	NA	getma.org/?cm=var&var=hg19,2,11300636,C,T&fts=all	P63L	--	--	1																																		PQLC3_uc010yjk.1_Missense_Mutation_p.P63L	0,1	1		benign(0)	p.P63L	NM_152391	NP_689604		tolerated(1)	0,1	PQLC3_HUMAN	PQLC3	HGNC	Q8N755	PQLC3_HUMAN		Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)			2	321	+	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)		UPI0000070DA0	63					SNV	PQLC3,missense_variant,p.Pro63Leu,ENST00000295083,NM_152391.3;PQLC3,missense_variant,p.Pro63Leu,ENST00000441908,NM_001282710.1;PQLC3,missense_variant,p.Pro43Leu,ENST00000428481,;PQLC3,missense_variant,p.Pro63Leu,ENST00000402361,NM_001282711.1;PQLC3,missense_variant,p.Pro86Leu,ENST00000445402,;PQLC3,non_coding_transcript_exon_variant,,ENST00000476787,;PQLC3,missense_variant,p.Pro63Leu,ENST00000445921,;PQLC3,non_coding_transcript_exon_variant,,ENST00000464700,;PQLC3,non_coding_transcript_exon_variant,,ENST00000496444,;	uc002rbc.2	c.188C>T	363/1830	2	2			c.188C>T						2	SNP	c.(187-189)CCG>CTG	35	35				0	Broad	PQ loop repeat containing 3 precursor			11300636		0.617	ENSG00000162976	12218	g.chr2:11300636C>T		integral to membrane								44.641496	KEEP	9	13	-1	53	51	9	13	-1	55.706144	53	51	0.181034	1	0	0	0	0	1	0	0	0	--	--		0	T			PQLC3_uc010yjk.1_Missense_Mutation_p.P63L	275	GBM-76-6192-TP	p.P63L	C	GGGTATCCGCCGCTGACCTAC	NM_152391	NP_689604	11300636	Q8N755	PQLC3_HUMAN	0		Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)	2	321	+	T	T	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)		Missense_Mutation	63						
PRAME	0	broad.mit.edu	GRCh37	22	22893261	22893261	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-27-2527-01	TCGA-27-2527-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398741.1:c.272A>G	p.His91Arg	p.H91R	ENST00000398741	NM_206955.1	91	cAt/cGt	0			1			C	H/R	uc002zwf.2	protein_coding		CCDS13801.1			272/1530									central_nervous_system(2)	2	c.(271-273)CAT>CGT			hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF4,PIRSF_domain:PIRSF038286	preferentially expressed antigen in melanoma				ENSP00000381726		6-Apr									COSM2157304	6-Apr	.		ENST00000398741	Transcript			apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	ENSG00000185686	g.chr22:22893261T>C	9336			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=PRAME_HUMAN&rb=1&re=200&var=H91R	NA	getma.org/?cm=var&var=hg19,22,22893261,T,C&fts=all	H91R	--	--	1																																		LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.H75R|PRAME_uc010gtr.2_Missense_Mutation_p.H91R|PRAME_uc002zwg.2_Missense_Mutation_p.H91R|PRAME_uc002zwh.2_Missense_Mutation_p.H91R|PRAME_uc002zwi.2_Missense_Mutation_p.H91R|PRAME_uc002zwj.2_Missense_Mutation_p.H91R|PRAME_uc002zwk.2_Missense_Mutation_p.H91R	1			benign(0)	p.H91R	NM_206956	NP_996839		tolerated(0.4)	1	PRAME_HUMAN	PRAME	HGNC	P78395	PRAME_HUMAN		READ - Rectum adenocarcinoma(21;0.0649)	F5H4B1_HUMAN,E7EW99_HUMAN,E7EMH2_HUMAN,B7Z986_HUMAN,B5MD04_HUMAN,B5MCY4_HUMAN		3	428	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)	UPI0000000DDA	91					SNV	PRAME,missense_variant,p.His91Arg,ENST00000543184,NM_206953.1;PRAME,missense_variant,p.His75Arg,ENST00000539862,;PRAME,missense_variant,p.His91Arg,ENST00000398741,NM_206955.1;PRAME,missense_variant,p.His91Arg,ENST00000398743,;PRAME,missense_variant,p.His91Arg,ENST00000405655,NM_206956.1;PRAME,missense_variant,p.His91Arg,ENST00000402697,NM_206954.1,NM_006115.3;PRAME,missense_variant,p.His75Arg,ENST00000424204,;PRAME,missense_variant,p.His91Arg,ENST00000439106,;PRAME,missense_variant,p.His91Arg,ENST00000406503,;PRAME,missense_variant,p.His91Arg,ENST00000420709,;PRAME,missense_variant,p.His115Arg,ENST00000438888,;PRAME,downstream_gene_variant,,ENST00000403441,;PRAME,non_coding_transcript_exon_variant,,ENST00000485532,;PRAME,non_coding_transcript_exon_variant,,ENST00000476336,;PRAME,3_prime_UTR_variant,,ENST00000442481,;PRAME,non_coding_transcript_exon_variant,,ENST00000492657,;	uc002zwf.2	c.272A>G	579/2202	3	3			c.272A>G						22	SNP	c.(271-273)CAT>CGT	10	10			central_nervous_system(2)	2	Broad	preferentially expressed antigen in melanoma			22893261		0.582	ENSG00000185686	12222	g.chr22:22893261T>C	apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	Melanoma(73;1707 1838 15168 27201)		1184	Melanoma(73;1707 1838 15168 27201)		1184	113.047752	KEEP	25	23	-1	77	95	25	23	-1	127.167159	77	95	0.22549	1	0	0	0	0	1	0	0	0	--	--		0	C			LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.H75R|PRAME_uc010gtr.2_Missense_Mutation_p.H91R|PRAME_uc002zwg.2_Missense_Mutation_p.H91R|PRAME_uc002zwh.2_Missense_Mutation_p.H91R|PRAME_uc002zwi.2_Missense_Mutation_p.H91R|PRAME_uc002zwj.2_Missense_Mutation_p.H91R|PRAME_uc002zwk.2_Missense_Mutation_p.H91R	204	GBM-27-2527-TP	p.H91R	T	CAGGTGAAGATGTTGTCCCTT	NM_206956	NP_996839	22893261	P78395	PRAME_HUMAN	0		READ - Rectum adenocarcinoma(21;0.0649)	3	428	-	C	C	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)	Missense_Mutation	91						
PRAME	0	broad.mit.edu	GRCh37	22	22892481	22892481	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs116965324	by1000genomes	TCGA-28-5219-01	TCGA-28-5219-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398741.1:c.620G>A	p.Arg207His	p.R207H	ENST00000398741	NM_206955.1	207	cGc/cAc	0		T:0	1	T:0		T	R/H	uc002zwf.2	protein_coding		CCDS13801.1			620/1530									central_nervous_system(2)	2	c.(619-621)CGC>CAC			hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF4,Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286	preferentially expressed antigen in melanoma		T:0		ENSP00000381726	T:0.002	6-May	3.29E-05					4.50E-05		6.06E-05	rs116965324,COSM263078	6-May	.		ENST00000398741	Transcript		T:0.0004	apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	ENSG00000185686	g.chr22:22892481C>T	9336			MODERATE		-2.345	neutral	getma.org/?cm=msa&ty=f&p=PRAME_HUMAN&rb=201&re=400&var=R207H	NA	getma.org/?cm=var&var=hg19,22,22892481,C,T&fts=all	R207H	--	--	1																																		LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.R191H|PRAME_uc010gtr.2_Missense_Mutation_p.R207H|PRAME_uc002zwg.2_Missense_Mutation_p.R207H|PRAME_uc002zwh.2_Missense_Mutation_p.R207H|PRAME_uc002zwi.2_Missense_Mutation_p.R207H|PRAME_uc002zwj.2_Missense_Mutation_p.R207H|PRAME_uc002zwk.2_Missense_Mutation_p.R207H	0,1			benign(0)	p.R207H	NM_206956	NP_996839	T:0	tolerated(1)	0,1	PRAME_HUMAN	PRAME	HGNC	P78395	PRAME_HUMAN		READ - Rectum adenocarcinoma(21;0.0649)	F5H4B1_HUMAN,E7EW99_HUMAN,E7EMH2_HUMAN,B7Z986_HUMAN,B5MD04_HUMAN,B5MCY4_HUMAN		4	776	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)	UPI0000000DDA	207					SNV	PRAME,missense_variant,p.Arg207His,ENST00000543184,NM_206953.1;PRAME,missense_variant,p.Arg191His,ENST00000539862,;PRAME,missense_variant,p.Arg207His,ENST00000398741,NM_206955.1;PRAME,missense_variant,p.Arg207His,ENST00000398743,;PRAME,missense_variant,p.Arg207His,ENST00000405655,NM_206956.1;PRAME,missense_variant,p.Arg207His,ENST00000402697,NM_206954.1,NM_006115.3;PRAME,missense_variant,p.Arg191His,ENST00000424204,;PRAME,downstream_gene_variant,,ENST00000439106,;PRAME,downstream_gene_variant,,ENST00000406503,;PRAME,downstream_gene_variant,,ENST00000420709,;PRAME,downstream_gene_variant,,ENST00000403441,;PRAME,downstream_gene_variant,,ENST00000438888,;PRAME,downstream_gene_variant,,ENST00000485532,;PRAME,downstream_gene_variant,,ENST00000476336,;PRAME,non_coding_transcript_exon_variant,,ENST00000492657,;PRAME,downstream_gene_variant,,ENST00000442481,;	uc002zwf.2	c.620G>A	927/2202	2	2			c.620G>A						22	SNP	c.(619-621)CGC>CAC	42	42			central_nervous_system(2)	2	Broad	preferentially expressed antigen in melanoma			22892481		0.443	ENSG00000185686	12222	g.chr22:22892481C>T	apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	Melanoma(73;1707 1838 15168 27201)		1184	Melanoma(73;1707 1838 15168 27201)		1184	197.544772	KEEP	40	43	-1	76	77	40	43	-1	202.001785	76	77	0.347222	1	0	0	0	0	1	0	0	0	--	--		0	T			LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.R191H|PRAME_uc010gtr.2_Missense_Mutation_p.R207H|PRAME_uc002zwg.2_Missense_Mutation_p.R207H|PRAME_uc002zwh.2_Missense_Mutation_p.R207H|PRAME_uc002zwi.2_Missense_Mutation_p.R207H|PRAME_uc002zwj.2_Missense_Mutation_p.R207H|PRAME_uc002zwk.2_Missense_Mutation_p.R207H	225	GBM-28-5219-TP	p.R207H	C	ACAGCACAGGCGTAGTACATT	NM_206956	NP_996839	22892481	P78395	PRAME_HUMAN	0		READ - Rectum adenocarcinoma(21;0.0649)	4	776	-	T	T	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)	Missense_Mutation	207						
PRAME	0	broad.mit.edu	GRCh37	22	22891015	22891015	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01	TCGA-41-3393-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398741.1:c.1004C>T	p.Ser335Leu	p.S335L	ENST00000398741	NM_206955.1	335	tCg/tTg	0			1			A	S/L	uc002zwf.2	protein_coding		CCDS13801.1			1004/1530									central_nervous_system(2)	2	c.(1003-1005)TCG>TTG			hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF4,Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047	preferentially expressed antigen in melanoma				ENSP00000381726		6-Jun	9.06E-05		8.70E-05					0.000625	rs760158493,COSM3405542	6-Jun	common_variant		ENST00000398741	Transcript			apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	ENSG00000185686	g.chr22:22891015G>A	9336			MODERATE		1.625	low	getma.org/?cm=msa&ty=f&p=PRAME_HUMAN&rb=201&re=400&var=S335L	NA	getma.org/?cm=var&var=hg19,22,22891015,G,A&fts=all	S335L	--	--	1																																		LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.S319L|PRAME_uc010gtr.2_Missense_Mutation_p.S335L|PRAME_uc002zwg.2_Missense_Mutation_p.S335L|PRAME_uc002zwh.2_Missense_Mutation_p.S335L|PRAME_uc002zwi.2_Missense_Mutation_p.S335L|PRAME_uc002zwj.2_Missense_Mutation_p.S335L|PRAME_uc002zwk.2_Missense_Mutation_p.S335L	0,1			benign(0.012)	p.S335L	NM_206956	NP_996839		tolerated(0.31)	0,1	PRAME_HUMAN	PRAME	HGNC	P78395	PRAME_HUMAN		READ - Rectum adenocarcinoma(21;0.0649)	F5H4B1_HUMAN,E7EW99_HUMAN,E7EMH2_HUMAN,B7Z986_HUMAN,B5MD04_HUMAN,B5MCY4_HUMAN		5	1160	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)	UPI0000000DDA	335			LRR 1.		SNV	PRAME,missense_variant,p.Ser335Leu,ENST00000543184,NM_206953.1;PRAME,missense_variant,p.Ser319Leu,ENST00000539862,;PRAME,missense_variant,p.Ser335Leu,ENST00000398741,NM_206955.1;PRAME,missense_variant,p.Ser335Leu,ENST00000398743,;PRAME,missense_variant,p.Ser335Leu,ENST00000405655,NM_206956.1;PRAME,missense_variant,p.Ser335Leu,ENST00000402697,NM_206954.1,NM_006115.3;PRAME,missense_variant,p.Ser319Leu,ENST00000424204,;PRAME,downstream_gene_variant,,ENST00000439106,;PRAME,downstream_gene_variant,,ENST00000406503,;PRAME,downstream_gene_variant,,ENST00000420709,;PRAME,downstream_gene_variant,,ENST00000403441,;PRAME,downstream_gene_variant,,ENST00000438888,;PRAME,downstream_gene_variant,,ENST00000485532,;PRAME,downstream_gene_variant,,ENST00000476336,;PRAME,non_coding_transcript_exon_variant,,ENST00000492657,;PRAME,downstream_gene_variant,,ENST00000442481,;	uc002zwf.2	c.1004C>T	1311/2202	1	1			c.1004C>T						22	SNP	c.(1003-1005)TCG>TTG	59	59			central_nervous_system(2)	2	Broad	preferentially expressed antigen in melanoma			22891015		0.542	ENSG00000185686	12222	g.chr22:22891015G>A	apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	Melanoma(73;1707 1838 15168 27201)		1184	Melanoma(73;1707 1838 15168 27201)		1184	195.004142	KEEP	39	44	-1	103	118	39	44	-1	207.645718	103	118	0.273723	1	0	0	0	0	1	0	0	0	--	--		0	A			LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.S319L|PRAME_uc010gtr.2_Missense_Mutation_p.S335L|PRAME_uc002zwg.2_Missense_Mutation_p.S335L|PRAME_uc002zwh.2_Missense_Mutation_p.S335L|PRAME_uc002zwi.2_Missense_Mutation_p.S335L|PRAME_uc002zwj.2_Missense_Mutation_p.S335L|PRAME_uc002zwk.2_Missense_Mutation_p.S335L	255	GBM-41-3393-TP	p.S335L	G	ATCCCCTTCCGAAAGCCGGCA	NM_206956	NP_996839	22891015	P78395	PRAME_HUMAN	0		READ - Rectum adenocarcinoma(21;0.0649)	5	1160	-	A	A	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)	Missense_Mutation	335			LRR 1.			
PRAMEF1	65121	broad.mit.edu	GRCh37	1	12854545	12854545	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs1063779	byFrequency	TCGA-06-0211-01	TCGA-06-0211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332296.7:c.769G>A	p.Ala257Thr	p.A257T	ENST00000332296	NM_023013.2	257	Gcc/Acc	0			1			A	A/T	uc001auj.1	protein_coding	YES	CCDS148.1			769/1425										0	c.(769-771)GCC>ACC			hmmpanther:PTHR14224:SF2,hmmpanther:PTHR14224,Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047	PRAME family member 1				ENSP00000332134		4-Mar	0.0017	9.77E-05	0.000173	0.00524	0.000606	0.000706		0.00232	rs1063779,COSM2181159,COSM2181160	4-Mar	common_variant		ENST00000332296	Transcript						ENSG00000116721	g.chr1:12854545G>A	28840			MODERATE		0.475	neutral	getma.org/?cm=msa&ty=f&p=PRAM1_HUMAN&rb=201&re=400&var=A257T	NA	getma.org/?cm=var&var=hg19,1,12854545,G,A&fts=all	A257T	--	--	1																																			0,1,1	1		benign(0.002)	p.A257T	NM_023013	NP_075389		tolerated(0.71)	0,1,1	PRAM1_HUMAN	PRAMEF1	HGNC	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)			3	872	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	UPI00000715BF	257					SNV	PRAMEF1,missense_variant,p.Ala257Thr,ENST00000332296,NM_023013.2;PRAMEF1,upstream_gene_variant,,ENST00000400814,;	uc001auj.1	c.769G>A	872/2160	1	1			c.769G>A						1	SNP	c.(769-771)GCC>ACC	54	54				0	Broad	PRAME family member 1			12854545		0.453	ENSG00000116721	12223	g.chr1:12854545G>A										-21.115175	KEEP	17	16	-1	68	91	17	16	-1	14.63297	68	91	0.048485	1	0	0	0	0	1	0	0	0	--	--		0	A				48	GBM-06-0211-TP	p.A257T	G	ACGGTTAGTTGCCAAATTCAG	NM_023013	NP_075389	12854545	O95521	PRAM1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	872	+	A	A	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	Missense_Mutation	257						
PRAMEF1	0	broad.mit.edu	GRCh37	1	12854536	12854536	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs1063777		TCGA-41-2573-01	TCGA-41-2573-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332296.7:c.760C>T	p.Arg254Trp	p.R254W	ENST00000332296	NM_023013.2	254	Cgg/Tgg	0			1			T	R/W	uc001auj.1	protein_coding	YES	CCDS148.1			760/1425										0	c.(760-762)CGG>TGG			hmmpanther:PTHR14224:SF2,hmmpanther:PTHR14224,Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047	PRAME family member 1				ENSP00000332134		4-Mar	3.30E-05	9.71E-05				4.50E-05			rs1063777,COSM3399631,COSM3399632	4-Mar	.		ENST00000332296	Transcript						ENSG00000116721	g.chr1:12854536C>T	28840			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=PRAM1_HUMAN&rb=201&re=400&var=R254W	NA	getma.org/?cm=var&var=hg19,1,12854536,C,T&fts=all	R254W	--	--	1																																			0,1,1	1		benign(0)	p.R254W	NM_023013	NP_075389		deleterious(0)	0,1,1	PRAM1_HUMAN	PRAMEF1	HGNC	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)			3	863	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	UPI00000715BF	254					SNV	PRAMEF1,missense_variant,p.Arg254Trp,ENST00000332296,NM_023013.2;PRAMEF1,upstream_gene_variant,,ENST00000400814,;	uc001auj.1	c.760C>T	863/2160	2	2			c.760C>T						1	SNP	c.(760-762)CGG>TGG	43	43				0	Broad	PRAME family member 1			12854536		0.438	ENSG00000116721	12223	g.chr1:12854536C>T										112.759126	KEEP	60	71	-1	68	80	60	71	-1	123.391043	68	80	0.248649	1	0	0	0	0	1	0	0	0	--	--		0	T				252	GBM-41-2573-TP	p.R254W	C	ACTCCAAGGACGGTTAGTTGC	NM_023013	NP_075389	12854536	O95521	PRAM1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	863	+	T	T	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	Missense_Mutation	254						
PRAMEF10	0	broad.mit.edu	GRCh37	1	12955489	12955489	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01	TCGA-32-4210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000235347.4:c.190C>T	p.Leu64Phe	p.L64F	ENST00000235347	NM_001039361.3	64	Ctc/Ttc	0			1			A	L/F	uc001auo.2	protein_coding	YES	CCDS41255.1			190/1425										0	c.(190-192)CTC>TTC			PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224:SF16,hmmpanther:PTHR14224	PRAME family member 10				ENSP00000235347		4-Feb									COSM3399637	4-Feb	.		ENST00000235347	Transcript						ENSG00000187545	g.chr1:12955489G>A	27997			MODERATE		2.97	medium	getma.org/?cm=msa&ty=f&p=PRA10_HUMAN&rb=1&re=200&var=L64F	NA	getma.org/?cm=var&var=hg19,1,12955489,G,A&fts=all	L64F	--	--	1																																			1	1		probably_damaging(1)	p.L64F	NM_001039361	NP_001034450		deleterious(0)	1	PRA10_HUMAN	PRAMEF10	HGNC	O60809	PRA10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)			2	263	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	UPI0000199949	64					SNV	PRAMEF10,missense_variant,p.Leu64Phe,ENST00000235347,NM_001039361.3;	uc001auo.2	c.190C>T	270/1525	2	2			c.190C>T						1	SNP	c.(190-192)CTC>TTC	24	24				0	Broad	PRAME family member 10			12955489		0.587	ENSG00000187545	12224	g.chr1:12955489G>A										-32.790095	KEEP	3	2	-1	102	96	3	2	-1	10.893689	102	96	0.02809	1	0	0	0	0	1	0	0	0	--	--		0	A				245	GBM-32-4210-TP	p.L64F	G	CCCAGAGGGAGGCTGAGGAAG	NM_001039361	NP_001034450	12955489	O60809	PRA10_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	263	-	A	A	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	Missense_Mutation	64						
PRAMEF11	440560		GRCh37	1	12885289	12885289	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000535591.1:c.822C>A	p.Leu274=	p.L274=	ENST00000535591	NM_001146344.1	274	ctC/ctA	0																																																																																																																																																																																																																																												
PRAMEF11	440560		GRCh37	1	12887475	12887475	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000535591.1:c.382C>A	p.Leu128Ile	p.L128I	ENST00000535591	NM_001146344.1	128	Ctt/Att	0																																																																																																																																																																																																																																												
PRAMEF12	390999	broad.mit.edu	GRCh37	1	12836029	12836029	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0169-01	TCGA-06-0169-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357726.4:c.631T>C	p.Cys211Arg	p.C211R	ENST00000357726	NM_001080830.1	211	Tgc/Cgc	0			1			C	C/R	uc001aui.2	protein_coding	YES	CCDS41254.1			631/1452									ovary(3)	3	c.(631-633)TGC>CGC			hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF30,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047	PRAME family member 12				ENSP00000350358		3-Feb									COSM3399628	3-Feb	.		ENST00000357726	Transcript						ENSG00000116726	g.chr1:12836029T>C	22125			MODERATE		0.99	low	getma.org/?cm=msa&ty=f&p=PRA12_HUMAN&rb=201&re=400&var=C211R	NA	getma.org/?cm=var&var=hg19,1,12836029,T,C&fts=all	C211R	--	--	1																																			1	1		probably_damaging(0.983)	p.C211R	NM_001080830	NP_001074299		deleterious(0.05)	1	PRA12_HUMAN	PRAMEF12	HGNC	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)			2	658	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	UPI000013A190	211					SNV	PRAMEF12,missense_variant,p.Cys211Arg,ENST00000357726,NM_001080830.1;	uc001aui.2	c.631T>C	658/1786	3	3			c.631T>C						1	SNP	c.(631-633)TGC>CGC	51	51			ovary(3)	3	Broad	PRAME family member 12			12836029		0.517	ENSG00000116726	12225	g.chr1:12836029T>C										-43.007277	KEEP	6	2	-1	108	127	6	2	-1	11.274601	108	127	0.03125	1	0	0	0	0	1	0	0	0	--	--		0	C				34	GBM-06-0169-TP	p.C211R	T	GGTGGAAGTGTGCTGCCCGTG	NM_001080830	NP_001074299	12836029	O95522	PRA12_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	658	+	C	C	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	Missense_Mutation	211						
PRAMEF12	0	broad.mit.edu	GRCh37	1	12837525	12837525	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357726.4:c.1235C>T	p.Pro412Leu	p.P412L	ENST00000357726	NM_001080830.1	412	cCt/cTt	0			1			T	P/L	uc001aui.2	protein_coding	YES	CCDS41254.1			1235/1452									ovary(3)	3	c.(1234-1236)CCT>CTT			hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF30,PIRSF_domain:PIRSF038286	PRAME family member 12				ENSP00000350358		3-Mar									COSM3399630	3-Mar	.		ENST00000357726	Transcript						ENSG00000116726	g.chr1:12837525C>T	22125			MODERATE		2.545	medium	getma.org/?cm=msa&ty=f&p=PRA12_HUMAN&rb=401&re=483&var=P412L	NA	getma.org/?cm=var&var=hg19,1,12837525,C,T&fts=all	P412L	--	--	1																																			1	1		probably_damaging(0.991)	p.P412L	NM_001080830	NP_001074299		deleterious(0)	1	PRA12_HUMAN	PRAMEF12	HGNC	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)			3	1262	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	UPI000013A190	412					SNV	PRAMEF12,missense_variant,p.Pro412Leu,ENST00000357726,NM_001080830.1;	uc001aui.2	c.1235C>T	1262/1786	2	2			c.1235C>T						1	SNP	c.(1234-1236)CCT>CTT	27	27			ovary(3)	3	Broad	PRAME family member 12			12837525		0.577	ENSG00000116726	12225	g.chr1:12837525C>T										-14.371661	KEEP	7	3	-1	93	89	7	3	-1	19.859987	93	89	0.054878	1	0	0	0	0	1	0	0	0	--	--		0	T				160	GBM-19-1790-TP	p.P412L	C	GAGCTGTATCCTGCCCCTCTG	NM_001080830	NP_001074299	12837525	O95522	PRA12_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	1262	+	T	T	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	Missense_Mutation	412						
PRAMEF2	0	broad.mit.edu	GRCh37	1	12919972	12919972	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-2554-01	TCGA-14-2554-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000240189.2:c.712G>A	p.Val238Ile	p.V238I	ENST00000240189	NM_023014.1	238	Gtt/Att	0			1			A	V/I	uc001aum.1	protein_coding	YES	CCDS149.1			712/1425						not_provided				0	c.(712-714)GTT>ATT			hmmpanther:PTHR14224:SF20,hmmpanther:PTHR14224,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047	PRAME family member 2				ENSP00000240189		4-Mar	8.25E-06			0.000116					rs267597976,COSM3399636	4-Mar	.		ENST00000240189	Transcript						ENSG00000120952	g.chr1:12919972G>A	28841			MODERATE		0.425	neutral	getma.org/?cm=msa&ty=f&p=PRAM2_HUMAN&rb=201&re=400&var=V238I	NA	getma.org/?cm=var&var=hg19,1,12919972,G,A&fts=all	V238I	--	--	1																																			1,1	1		benign(0.006)	p.V238I	NM_023014	NP_075390		tolerated(0.25)	0,1	PRAM2_HUMAN	PRAMEF2	HGNC	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)			3	799	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	UPI0000139EF9	238					SNV	PRAMEF2,missense_variant,p.Val238Ile,ENST00000240189,NM_023014.1;	uc001aum.1	c.712G>A	799/1642	2	2			c.712G>A						1	SNP	c.(712-714)GTT>ATT	33	33				0	Broad	PRAME family member 2			12919972		0.448	ENSG00000120952	12231	g.chr1:12919972G>A										218.419951	KEEP	43	39	-1	87	73	43	39	-1	222.685393	87	73	0.351351	1	0	0	0	0	1	0	0	0	--	--		0	A				150	GBM-14-2554-TP	p.V238I	G	TTGCAAACTCGTTTTCTCCAG	NM_023014	NP_075390	12919972	O60811	PRAM2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	799	+	A	A	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	Missense_Mutation	238						
PRAMEF2	0	broad.mit.edu	GRCh37	1	12918957	12918957	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-2521-01	TCGA-27-2521-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000240189.2:c.93G>A	p.Leu31=	p.L31=	ENST00000240189	NM_023014.1	31	ctG/ctA	0			1			A	L	uc001aum.1	protein_coding	YES	CCDS149.1			93/1425										0	c.(91-93)CTG>CTA			hmmpanther:PTHR14224:SF20,hmmpanther:PTHR14224,PIRSF_domain:PIRSF038286	PRAME family member 2				ENSP00000240189		4-Feb									COSM3399635	4-Feb	.		ENST00000240189	Transcript						ENSG00000120952	g.chr1:12918957G>A	28841			LOW								--	--	1																																			1	1			p.L31L	NM_023014	NP_075390			1	PRAM2_HUMAN	PRAMEF2	HGNC	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)			2	180	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	UPI0000139EF9	31					SNV	PRAMEF2,synonymous_variant,p.=,ENST00000240189,NM_023014.1;	uc001aum.1	c.93G>A	180/1642	2	2			c.93G>A						1	SNP	c.(91-93)CTG>CTA	28	28				0	Broad	PRAME family member 2			12918957		0.622	ENSG00000120952	12231	g.chr1:12918957G>A										38.477247	KEEP	10	13	-1	55	56	10	13	-1	51.718149	55	56	0.170543	1	0	0	0	0	0	0	1	0	--	--		0	A				200	GBM-27-2521-TP	p.L31L	G	TGGAGGAGCTGCCCAGGGTGC	NM_023014	NP_075390	12918957	O60811	PRAM2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	180	+	A	A	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	Silent	31						
PRAMEF2	0	broad.mit.edu	GRCh37	1	12919829	12919829	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01	TCGA-27-2526-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000240189.2:c.569C>T	p.Thr190Met	p.T190M	ENST00000240189	NM_023014.1	190	aCg/aTg	0	T:0	T:0	1	T:0		T	T/M	uc001aum.1	protein_coding	YES	CCDS149.1			569/1425										0	c.(568-570)ACG>ATG			hmmpanther:PTHR14224:SF20,hmmpanther:PTHR14224,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047	PRAME family member 2		T:0	T:0.0001	ENSP00000240189	T:0	4-Mar	0.000635		0.000267			3.01E-05		0.00438	rs374389020,COSM462792	4-Mar	common_variant		ENST00000240189	Transcript		T:0.0006				ENSG00000120952	g.chr1:12919829C>T	28841			MODERATE		-1.7	neutral	getma.org/?cm=msa&ty=f&p=PRAM2_HUMAN&rb=1&re=200&var=T190M	NA	getma.org/?cm=var&var=hg19,1,12919829,C,T&fts=all	T190M	--	--	1																																			0,1	1		benign(0.07)	p.T190M	NM_023014	NP_075390	T:0.0031	tolerated(1)	0,1	PRAM2_HUMAN	PRAMEF2	HGNC	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)			3	656	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	UPI0000139EF9	190					SNV	PRAMEF2,missense_variant,p.Thr190Met,ENST00000240189,NM_023014.1;	uc001aum.1	c.569C>T	656/1642	1	1			c.569C>T						1	SNP	c.(568-570)ACG>ATG	1	1				0	Broad	PRAME family member 2			12919829		0.398	ENSG00000120952	12231	g.chr1:12919829C>T										599.55756	KEEP	120	113	-1	211	188	120	113	-1	607.314016	211	188	0.372943	1	0	0	0	0	1	0	0	0	--	--		0	T				203	GBM-27-2526-TP	p.T190M	C	AATTATCTAACGCCAATTAAA	NM_023014	NP_075390	12919829	O60811	PRAM2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	656	+	T	T	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	Missense_Mutation	190						
PRAMEF2	65122		GRCh37	1	12919080	12919080	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000240189.2:c.216G>A	p.Thr72=	p.T72=	ENST00000240189	NM_023014.1	72	acG/acA	0																																																																																																																																																																																																																																												
PRB1	0	broad.mit.edu	GRCh37	12	11506753	11506753	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01	TCGA-14-3476-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000500254.2:c.284G>T	p.Gly95Val	p.G95V	ENST00000500254	NM_199353.2	95	gGa/gTa	0			1			A	G/V	uc001qzw.1	protein_coding	YES	CCDS8642.1			284/597										0	c.(283-285)GGA>GTA			Low_complexity_(Seg):seg,Pfam_domain:PF15240,hmmpanther:PTHR23203:SF2,hmmpanther:PTHR23203	proline-rich protein BstNI subfamily 1 isoform 1				ENSP00000420826		5-Mar									COSM3398396	5-Mar	.		ENST00000500254	Transcript				extracellular region		ENSG00000251655	g.chr12:11506753C>A	9337			MODERATE		2.35	medium	getma.org/?cm=msa&ty=f&p=G3V1R1_HUMAN&rb=1&re=178&var=G95V	NA	getma.org/?cm=var&var=hg19,12,11506753,C,A&fts=all	G95V	--	--	1																																		PRB1_uc001qzu.1_Missense_Mutation_p.G95V|PRB1_uc001qzv.1_Missense_Mutation_p.G95V	1	1		unknown(0)	p.G95V	NM_005039	NP_005030		deleterious_low_confidence(0)	1		PRB1	HGNC	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		G3V1M9_HUMAN		3	321	-			UPI00002371B8	156		Missing (in clone CP-4).|Missing (in clone CP-5).|Missing (in allele S).	6.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		SNV	PRB1,missense_variant,p.Gly95Val,ENST00000500254,NM_199353.2,NM_005039.3;PRB1,missense_variant,p.Gly95Val,ENST00000546254,;PRB1,missense_variant,p.Gly95Val,ENST00000545626,NM_199354.2;PRB1,non_coding_transcript_exon_variant,,ENST00000240636,;	uc001qzw.1	c.284G>T	322/775	2	2			c.284G>T						12	SNP	c.(283-285)GGA>GTA	42	42				0	Broad	proline-rich protein BstNI subfamily 1 isoform 1			11506753		0.607	ENSG00000251655	12234	g.chr12:11506753C>A		extracellular region								533.703493	KEEP	116	126	0.520661157	334	421	116	126	0.520661157	557.447289	334	421	0.305949	1	0	0	0	0	1	0	0	0	--	--		0	A			PRB1_uc001qzu.1_Missense_Mutation_p.G95V|PRB1_uc001qzv.1_Missense_Mutation_p.G95V	151	GBM-14-3476-TP	p.G95V	C	TTGTGGTTTTCCTGGAGGAGA	NM_005039	NP_005030	11506753	P04280	PRP1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	321	-	A	A			Missense_Mutation	156		Missing (in clone CP-4).|Missing (in clone CP-5).|Missing (in allele S).	6.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].			
PRB2	653247	broad.mit.edu	GRCh37	12	11546320	11546322	+	inframe_deletion	In_Frame_Del	DEL	TTG	TTG	-			TCGA-06-0124-01	TCGA-06-0124-01	TTG	TTG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389362.4:c.690_692del	p.Asn230del	p.N230del	ENST00000389362	NM_006248.3	230	aaCAAg/aag	0			1			-	NK/K	uc010shk.1	protein_coding	YES	CCDS41757.2			690-692/1251										0	c.(688-693)AACAAG>AAG			hmmpanther:PTHR23203,hmmpanther:PTHR23203:SF2,Pfam_domain:PF15240	proline-rich protein BstNI subfamily 2				ENSP00000374013		4-Mar									rs768084458,COSM404813,COSM404812	4-Mar	.		ENST00000389362	Transcript						ENSG00000121335	g.chr12:11546320_11546322delTTG	9338			MODERATE								--	--	1																																			0,1,1	1			p.N230del	NM_006248	NP_006239			0,1,1	PRB2_HUMAN	PRB2	HGNC			OV - Ovarian serous cystadenocarcinoma(49;0.185)				3	725_727	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	UPI0000EE5993						deletion	PRB2,inframe_deletion,p.Asn230del,ENST00000389362,NM_006248.3;PRB1,intron_variant,,ENST00000546254,;PRB2,downstream_gene_variant,,ENST00000565533,;PRB2,downstream_gene_variant,,ENST00000545829,;	uc010shk.1	c.690_692delCAA	726-728/1427	5	5			c.690_692delCAA						12	DEL	c.(688-693)AACAAG>AAG	41	41				0	Broad	proline-rich protein BstNI subfamily 2			11546322		0.601	ENSG00000121335	12235	g.chr12:11546320_11546322delTTG																							0.01	1	1	0	1	0	0	0	0	0	--	--		0	-				11	GBM-06-0124-TP	p.N230del	TTG	ACTTTGGGACTTGTTGTCTCCTT	NM_006248	NP_006239	11546320			0	OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	725_727	-	-	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	In_Frame_Del							
PRB2	0	broad.mit.edu	GRCh37	12	11546320	11546322	+	inframe_deletion	In_Frame_Del	DEL	TTG	TTG	-			TCGA-14-1823-01	TCGA-14-1823-01	TTG	TTG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389362.4:c.690_692delCAA	p.Asn230del	p.N230del	ENST00000389362	NM_006248.3	230	aaCAAg/aag	0			1			-	NK/K	uc010shk.1	protein_coding	YES	CCDS41757.2			690-692/1251										0	c.(688-693)AACAAG>AAG			hmmpanther:PTHR23203,hmmpanther:PTHR23203:SF2,Pfam_domain:PF15240	proline-rich protein BstNI subfamily 2				ENSP00000374013		4-Mar									rs768084458,COSM404813,COSM404812	4-Mar	.		ENST00000389362	Transcript						ENSG00000121335	g.chr12:11546320_11546322delTTG	9338			MODERATE								--	--	1																																			0,1,1	1			p.N230del	NM_006248	NP_006239			0,1,1	PRB2_HUMAN	PRB2	HGNC			OV - Ovarian serous cystadenocarcinoma(49;0.185)				3	725_727	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	UPI0000EE5993						deletion	PRB2,inframe_deletion,p.Asn230del,ENST00000389362,NM_006248.3;PRB1,intron_variant,,ENST00000546254,;PRB2,downstream_gene_variant,,ENST00000565533,;PRB2,downstream_gene_variant,,ENST00000545829,;	uc010shk.1	c.690_692delCAA	726-728/1427	5	5			c.690_692delCAA						12	DEL	c.(688-693)AACAAG>AAG	41	41				0	Broad	proline-rich protein BstNI subfamily 2			11546322		0.601	ENSG00000121335	12235	g.chr12:11546320_11546322delTTG																							0.01	1	1	0	1	0	0	0	0	0	--	--		0	-				147	GBM-14-1823-TP	p.N230del	TTG	ACTTTGGGACTTGTTGTCTCCTT	NM_006248	NP_006239	11546320			0	OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	725_727	-	-	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	In_Frame_Del							
PRB2	0	broad.mit.edu	GRCh37	12	11546320	11546322	+	inframe_deletion	In_Frame_Del	DEL	TTG	TTG	-			TCGA-27-1836-01	TCGA-27-1836-01	TTG	TTG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389362.4:c.690_692delCAA	p.Asn230del	p.N230del	ENST00000389362	NM_006248.3	230	aaCAAg/aag	0			1			-	NK/K	uc010shk.1	protein_coding	YES	CCDS41757.2			690-692/1251										0	c.(688-693)AACAAG>AAG			hmmpanther:PTHR23203,hmmpanther:PTHR23203:SF2,Pfam_domain:PF15240	proline-rich protein BstNI subfamily 2				ENSP00000374013		4-Mar									rs768084458,COSM404813,COSM404812	4-Mar	.		ENST00000389362	Transcript						ENSG00000121335	g.chr12:11546320_11546322delTTG	9338			MODERATE								--	--	1																																			0,1,1	1			p.N230del	NM_006248	NP_006239			0,1,1	PRB2_HUMAN	PRB2	HGNC			OV - Ovarian serous cystadenocarcinoma(49;0.185)				3	725_727	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	UPI0000EE5993						deletion	PRB2,inframe_deletion,p.Asn230del,ENST00000389362,NM_006248.3;PRB1,intron_variant,,ENST00000546254,;PRB2,downstream_gene_variant,,ENST00000565533,;PRB2,downstream_gene_variant,,ENST00000545829,;	uc010shk.1	c.690_692delCAA	726-728/1427	5	5			c.690_692delCAA						12	DEL	c.(688-693)AACAAG>AAG	41	41				0	Broad	proline-rich protein BstNI subfamily 2			11546322		0.601	ENSG00000121335	12235	g.chr12:11546320_11546322delTTG																							0.05	1	1	0	1	0	0	0	0	0	--	--		0	-				195	GBM-27-1836-TP	p.N230del	TTG	ACTTTGGGACTTGTTGTCTCCTT	NM_006248	NP_006239	11546320			0	OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	725_727	-	-	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	In_Frame_Del							
PRB2	0	broad.mit.edu	GRCh37	12	11546320	11546322	+	inframe_deletion	In_Frame_Del	DEL	TTG	TTG	-			TCGA-27-1837-01	TCGA-27-1837-01	TTG	TTG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389362.4:c.690_692delCAA	p.Asn230del	p.N230del	ENST00000389362	NM_006248.3	230	aaCAAg/aag	0			1			-	NK/K	uc010shk.1	protein_coding	YES	CCDS41757.2			690-692/1251										0	c.(688-693)AACAAG>AAG			hmmpanther:PTHR23203,hmmpanther:PTHR23203:SF2,Pfam_domain:PF15240	proline-rich protein BstNI subfamily 2				ENSP00000374013		4-Mar									rs768084458,COSM404813,COSM404812	4-Mar	.		ENST00000389362	Transcript						ENSG00000121335	g.chr12:11546320_11546322delTTG	9338			MODERATE								--	--	1																																			0,1,1	1			p.N230del	NM_006248	NP_006239			0,1,1	PRB2_HUMAN	PRB2	HGNC			OV - Ovarian serous cystadenocarcinoma(49;0.185)				3	725_727	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	UPI0000EE5993						deletion	PRB2,inframe_deletion,p.Asn230del,ENST00000389362,NM_006248.3;PRB1,intron_variant,,ENST00000546254,;PRB2,downstream_gene_variant,,ENST00000565533,;PRB2,downstream_gene_variant,,ENST00000545829,;	uc010shk.1	c.690_692delCAA	726-728/1427	5	5			c.690_692delCAA						12	DEL	c.(688-693)AACAAG>AAG	41	41				0	Broad	proline-rich protein BstNI subfamily 2			11546322		0.601	ENSG00000121335	12235	g.chr12:11546320_11546322delTTG																							0.02	1	1	0	1	0	0	0	0	0	--	--		0	-				196	GBM-27-1837-TP	p.N230del	TTG	ACTTTGGGACTTGTTGTCTCCTT	NM_006248	NP_006239	11546320			0	OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	725_727	-	-	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	In_Frame_Del							
PRB2	653247		GRCh37	12	11546320	11546322	+	inframe_deletion	In_Frame_Del	DEL	TTG	TTG	-			TCGA-06-0240-01	TCGA-06-0240-01																				ENST00000389362.4:c.690_692del	p.Asn230del	p.N230del	ENST00000389362	NM_006248.3	230	aaCAAg/aag	0																																																																																																																																																																																																																																												
PRB2	653247		GRCh37	12	11546506	11546508	+	inframe_deletion	In_Frame_Del	DEL	TTG	TTG	-			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000389362.4:c.504_506del	p.Asn168del	p.N168del	ENST00000389362	NM_006248.3	168	aaCAAg/aag	0																																																																																																																																																																																																																																												
PRB3	5544	broad.mit.edu	GRCh37	12	11420518	11420518	+	intron_variant	Intron	SNP	G	G	A			TCGA-06-5411-01	TCGA-06-5411-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381842.3:c.604+61C>T		p.*202*	ENST00000381842	NM_006249.4			0			1			A		uc001qzs.2	protein_coding	YES				-/930									skin(1)	1	c.(664-666)CCA>CTA				proline-rich protein BstNI subfamily 3				ENSP00000371264											COSM3398384		.		ENST00000381842	Transcript				extracellular region	Gram-negative bacterial cell surface binding	ENSG00000197870	g.chr12:11420518G>A	9339			MODIFIER	5-Mar							--	--	1																																		PRB4_uc001qzf.1_Intron	1	1			p.P222L	NM_006249	NP_006240			1	PRB3_HUMAN	PRB3	HGNC	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)				3	703	-			UPI0000E67202	222			9.|10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		SNV	PRB3,missense_variant,p.Pro222Leu,ENST00000279573,;PRB3,missense_variant,p.Pro201Leu,ENST00000538488,;PRB3,intron_variant,,ENST00000381842,NM_006249.4;PRB3,intron_variant,,ENST00000440870,;PRB3,downstream_gene_variant,,ENST00000539835,;	uc001qzs.2	c.665C>T	-/1091	2	2			c.665C>T						12	SNP	c.(664-666)CCA>CTA	17	17			skin(1)	1	Broad	proline-rich protein BstNI subfamily 3			11420518		0.617	ENSG00000197870	12236	g.chr12:11420518G>A		extracellular region	Gram-negative bacterial cell surface binding							105.506127	KEEP	45	44	-1	244	157	45	44	-1	127.828146	244	157	0.195312	1	0	0	0	0	1	0	0	0	--	--		0	A			PRB4_uc001qzf.1_Intron	94	GBM-06-5411-TP	p.P222L	G	TGGCTTTCCCGGACGAGGTGG	NM_006249	NP_006240	11420518	Q04118	PRB3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(49;0.201)		3	703	-	A	A			Missense_Mutation	222			9.|10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.			
PRB4	5545	broad.mit.edu	GRCh37	12	11461583	11461583	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0154-01	TCGA-06-0154-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000279575.1:c.334G>C	p.Gly112Arg	p.G112R	ENST00000279575	NM_001261399.1	112	Ggt/Cgt	0			1			G	G/R	uc001qzf.1	protein_coding	YES	CCDS8641.1			334/744									ovary(1)	1	c.(334-336)GGT>CGT			Low_complexity_(Seg):seg,hmmpanther:PTHR23203:SF4,hmmpanther:PTHR23203,Pfam_domain:PF15240	proline-rich protein BstNI subfamily 4				ENSP00000279575		4-Mar	1.89E-05					3.92E-05			rs757874200,COSM3747911	4-Mar	.		ENST00000279575	Transcript				extracellular region		ENSG00000230657	g.chr12:11461583C>G	9340			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=E9PAL0_HUMAN&rb=40&re=239&var=G112R	NA	getma.org/?cm=var&var=hg19,12,11461583,C,G&fts=all	G112R	--	--	1				HNSCC(22;0.051)																														PRB4_uc001qzt.2_Missense_Mutation_p.G112R	0,1	1		unknown(0)	p.G112R	NM_002723	NP_002714		deleterious_low_confidence(0.01)	0,1		PRB4	HGNC	P10163	PRB4_HUMAN			E9PAL0_HUMAN		3	368	-			UPI000013DBDC	154	Missing (in Ref. 7; CAA30542).	Missing (in allele M and allele S).	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.|6.		SNV	PRB4,missense_variant,p.Gly112Arg,ENST00000279575,NM_001261399.1,NM_002723.4;PRB4,missense_variant,p.Gly112Arg,ENST00000535904,;PRB4,missense_variant,p.Gly112Arg,ENST00000445719,;	uc001qzf.1	c.334G>C	368/913	4	4			c.334G>C						12	SNP	c.(334-336)GGT>CGT	25	25			ovary(1)	1	Broad	proline-rich protein BstNI subfamily 4			11461583		0.607	ENSG00000230657	12237	g.chr12:11461583C>G		extracellular region								-151.424015	KEEP	11	4	-1	403	277	11	4	-1	7.915618	403	277	0.013559	1	0	0	0	0	1	0	0	0	--	--	HNSCC(22;0.051)	0	G			PRB4_uc001qzt.2_Missense_Mutation_p.G112R	26	GBM-06-0154-TP	p.G112R	C	GGTGGGGTACCTTGGGACTGG	NM_002723	NP_002714	11461583	P10163	PRB4_HUMAN	0			3	368	-	G	G			Missense_Mutation	154	Missing (in Ref. 7; CAA30542).	Missing (in allele M and allele S).	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.|6.			
PRB4	5545	broad.mit.edu	GRCh37	12	11461589	11461589	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0154-01	TCGA-06-0154-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000279575.1:c.328T>C	p.Ser110Pro	p.S110P	ENST00000279575	NM_001261399.1	110	Tcc/Ccc	0			1			G	S/P	uc001qzf.1	protein_coding	YES	CCDS8641.1			328/744									ovary(1)	1	c.(328-330)TCC>CCC			hmmpanther:PTHR23203:SF4,hmmpanther:PTHR23203,Pfam_domain:PF15240	proline-rich protein BstNI subfamily 4				ENSP00000279575		4-Mar									COSM3747912	4-Mar	.		ENST00000279575	Transcript				extracellular region		ENSG00000230657	g.chr12:11461589A>G	9340			MODERATE		0.35	neutral	getma.org/?cm=msa&ty=f&p=E9PAL0_HUMAN&rb=40&re=239&var=S110P	NA	getma.org/?cm=var&var=hg19,12,11461589,A,G&fts=all	S110P	--	--	1				HNSCC(22;0.051)																														PRB4_uc001qzt.2_Missense_Mutation_p.S110P	1	1		unknown(0)	p.S110P	NM_002723	NP_002714		deleterious_low_confidence(0.02)	1		PRB4	HGNC	P10163	PRB4_HUMAN			E9PAL0_HUMAN		3	362	-			UPI000013DBDC	152		Missing (in allele M and allele S).	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.|6.		SNV	PRB4,missense_variant,p.Ser110Pro,ENST00000279575,NM_001261399.1,NM_002723.4;PRB4,missense_variant,p.Ser110Pro,ENST00000535904,;PRB4,missense_variant,p.Ser110Pro,ENST00000445719,;	uc001qzf.1	c.328T>C	362/913	3	3			c.328T>C						12	SNP	c.(328-330)TCC>CCC	11	11			ovary(1)	1	Broad	proline-rich protein BstNI subfamily 4			11461589		0.602	ENSG00000230657	12237	g.chr12:11461589A>G		extracellular region								-150.635611	KEEP	9	5	-1	396	281	9	5	-1	10.567556	396	281	0.010274	1	0	0	0	0	1	0	0	0	--	--	HNSCC(22;0.051)	0	G			PRB4_uc001qzt.2_Missense_Mutation_p.S110P	26	GBM-06-0154-TP	p.S110P	A	GTACCTTGGGACTGGTTTCCT	NM_002723	NP_002714	11461589	P10163	PRB4_HUMAN	0			3	362	-	G	G			Missense_Mutation	152		Missing (in allele M and allele S).	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.|6.			
PRCC	0	broad.mit.edu	GRCh37	1	156764463	156764463	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01	TCGA-14-1450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271526.4:c.1186C>T	p.Arg396Trp	p.R396W	ENST00000271526	NM_005973.4	396	Cgg/Tgg	0			1			T	R/W	uc001fqa.2	protein_coding	YES	CCDS1157.1			1186/1476	T		TFE3		papillary renal		PRCC/TFE3(25)		kidney(25)|central_nervous_system(2)	27	c.(1186-1188)CGG>TGG			Pfam_domain:PF10253,hmmpanther:PTHR13621	papillary renal cell carcinoma				ENSP00000271526		7-May									COSM1984281	7-May	.		ENST00000271526	Transcript	1		cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	ENSG00000143294	g.chr1:156764463C>T	9343			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=PRCC_HUMAN&rb=201&re=400&var=R396W	NA	getma.org/?cm=var&var=hg19,1,156764463,C,T&fts=all	R396W	--	--	1																																		PRCC_uc001fqb.2_Missense_Mutation_p.R364W	1	1		probably_damaging(0.969)	p.R396W	NM_005973	NP_005964		deleterious(0)	1	PRCC_HUMAN	PRCC	HGNC	Q92733	PRCC_HUMAN					5	1476	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		UPI000002EFDB	396					SNV	PRCC,missense_variant,p.Arg396Trp,ENST00000271526,NM_005973.4;PRCC,missense_variant,p.Arg364Trp,ENST00000353233,;PRCC,missense_variant,p.Arg162Trp,ENST00000454659,;PRCC,missense_variant,p.Arg103Trp,ENST00000526188,;PRCC,downstream_gene_variant,,ENST00000491853,;PRCC,non_coding_transcript_exon_variant,,ENST00000459707,;PRCC,upstream_gene_variant,,ENST00000469071,;	uc001fqa.2	c.1186C>T	1458/2103	1	1			c.1186C>T	T		TFE3		papillary renal	1	SNP	c.(1186-1188)CGG>TGG	9	9	PRCC/TFE3(25)		kidney(25)|central_nervous_system(2)	27	Broad	papillary renal cell carcinoma			156764463		0.478	ENSG00000143294	12239	g.chr1:156764463C>T	cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		p.R396W(SNU1040-Tumor)	110		p.R396W(SNU1040-Tumor)	110	65.459559	KEEP	14	17	-1	26	20	14	17	-1	66.40574	26	20	0.373134	1	0	0	0	0	1	0	0	0	--	--		0	T			PRCC_uc001fqb.2_Missense_Mutation_p.R364W	145	GBM-14-1450-TP	p.R396W	C	CCAGTTTAAGCGGCTGCAGGG	NM_005973	NP_005964	156764463	Q92733	PRCC_HUMAN	0			5	1476	+	T	T	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		Missense_Mutation	396						
PRCP	5547	broad.mit.edu	GRCh37	11	82571019	82571019	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T			TCGA-06-0122-01	TCGA-06-0122-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393399.2:c.372G>A		p.X124_splice	ENST00000393399	NM_199418.2	124	acG/acA	0			1			T	T	uc001ozs.2	protein_coding		CCDS8262.1			309/1491									skin(1)	1	c.(307-309)ACG>ACA			hmmpanther:PTHR11010,hmmpanther:PTHR11010:SF11,Pfam_domain:PF05577,Gene3D:3.40.50.1820	prolylcarboxypeptidase isoform 1 preproprotein				ENSP00000317362		9-Feb	8.24E-06					1.51E-05			rs773901335,COSM2149247,COSM2149246	9-Feb	.		ENST00000313010	Transcript			blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	ENSG00000137509	g.chr11:82571019C>T	9344			LOW								--	--	1																																		PRCP_uc001ozr.2_Silent_p.T124T	0,1,1				p.T103T	NM_005040	NP_005031			0,1,1	PCP_HUMAN	PRCP	HGNC	P42785	PCP_HUMAN			E9PR42_HUMAN,E9PQN3_HUMAN,E9PQB5_HUMAN,E9PLY4_HUMAN,E9PL85_HUMAN,E9PL49_HUMAN,E9PKN6_HUMAN,E9PIG4_HUMAN,B7Z7Q6_HUMAN,B3KR26_HUMAN		2	422	-			UPI000004BA61	103					SNV	PRCP,splice_region_variant,p.=,ENST00000313010,NM_005040.2;PRCP,splice_region_variant,p.=,ENST00000393399,NM_199418.2;PRCP,splice_region_variant,,ENST00000531801,;PRCP,splice_region_variant,,ENST00000527444,;PRCP,splice_region_variant,,ENST00000534396,;PRCP,splice_region_variant,p.=,ENST00000529671,;PRCP,splice_region_variant,p.=,ENST00000532809,;PRCP,splice_region_variant,,ENST00000528082,;PRCP,splice_region_variant,,ENST00000533126,;PRCP,intron_variant,,ENST00000535099,;PRCP,intron_variant,,ENST00000534631,;PRCP,intron_variant,,ENST00000531128,;PRCP,upstream_gene_variant,,ENST00000534264,;	uc001ozs.2	c.309G>A	504/3090	2	2			c.309G>A						11	SNP	c.(307-309)ACG>ACA	48	48			skin(1)	1	Broad	prolylcarboxypeptidase isoform 1 preproprotein			82571019		0.274	ENSG00000137509	12241	g.chr11:82571019C>T	blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity							40.539971	KEEP	12	5	-1	20	20	12	5	-1	42.400406	20	20	0.291667	1	0	0	0	0	0	0	1	0	--	--		0	T			PRCP_uc001ozr.2_Silent_p.T124T	10	GBM-06-0122-TP	p.T103T	C	CTGCACATACCGTGTTATTAC	NM_005040	NP_005031	82571019	P42785	PCP_HUMAN	0			2	422	-	T	T			Silent	103						
PRCP	0	broad.mit.edu	GRCh37	11	82564244	82564244	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-12-0615-01	TCGA-12-0615-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313010.3:c.386T>C	p.Leu129Pro	p.L129P	ENST00000313010	NM_005040.2	129	cTc/cCc	0			1			G	L/P	uc001ozs.2	protein_coding		CCDS8262.1			386/1491									skin(1)	1	c.(385-387)CTC>CCC			hmmpanther:PTHR11010,hmmpanther:PTHR11010:SF11,Pfam_domain:PF05577,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474	prolylcarboxypeptidase isoform 1 preproprotein				ENSP00000317362		9-Mar	8.24E-06					1.50E-05			rs770760814,COSM3398171,COSM3398170	9-Mar	.		ENST00000313010	Transcript			blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	ENSG00000137509	g.chr11:82564244A>G	9344			MODERATE		3.275	medium	getma.org/?cm=msa&ty=f&p=PCP_HUMAN&rb=55&re=477&var=L129P	getma.org/pdb.php?prot=PCP_HUMAN&from=55&to=477&var=L129P	getma.org/?cm=var&var=hg19,11,82564244,A,G&fts=all	L129P	--	--	1																																		PRCP_uc001ozr.2_Missense_Mutation_p.L150P	0,1,1			probably_damaging(0.975)	p.L129P	NM_005040	NP_005031		deleterious(0)	0,1,1	PCP_HUMAN	PRCP	HGNC	P42785	PCP_HUMAN			E9PR42_HUMAN,E9PQN3_HUMAN,E9PQB5_HUMAN,E9PLY4_HUMAN,E9PL85_HUMAN,E9PL49_HUMAN,E9PKN6_HUMAN,E9PIG4_HUMAN,B7Z7Q6_HUMAN,B3KR26_HUMAN		3	499	-			UPI000004BA61	129					SNV	PRCP,missense_variant,p.Leu129Pro,ENST00000313010,NM_005040.2;PRCP,missense_variant,p.Leu150Pro,ENST00000393399,NM_199418.2;PRCP,missense_variant,p.Leu24Pro,ENST00000535099,;PRCP,missense_variant,p.Leu24Pro,ENST00000531801,;PRCP,missense_variant,p.Leu24Pro,ENST00000527444,;PRCP,missense_variant,p.Leu24Pro,ENST00000534631,;PRCP,missense_variant,p.Leu24Pro,ENST00000534396,;PRCP,missense_variant,p.Leu88Pro,ENST00000529671,;PRCP,missense_variant,p.Leu24Pro,ENST00000534264,;PRCP,missense_variant,p.Leu24Pro,ENST00000531128,;PRCP,missense_variant,p.Leu75Pro,ENST00000532809,;PRCP,missense_variant,p.Leu24Pro,ENST00000528082,;PRCP,missense_variant,p.Leu24Pro,ENST00000533126,;	uc001ozs.2	c.386T>C	581/3090	4	4			c.386T>C						11	SNP	c.(385-387)CTC>CCC	21	21			skin(1)	1	Broad	prolylcarboxypeptidase isoform 1 preproprotein			82564244		0.363	ENSG00000137509	12241	g.chr11:82564244A>G	blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity							-7.932253	KEEP	1	2	-1	29	39	1	2	-1	6.91489	29	39	0.044776	1	0	0	0	0	1	0	0	0	--	--		0	G			PRCP_uc001ozr.2_Missense_Mutation_p.L150P	117	GBM-12-0615-TP	p.L129P	A	ACCAAAGGGGAGAGACTCTCC	NM_005040	NP_005031	82564244	P42785	PCP_HUMAN	0			3	499	-	G	G			Missense_Mutation	129						
PRCP	0	broad.mit.edu	GRCh37	11	82549612	82549612	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01	TCGA-76-4927-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313010.3:c.1091G>A	p.Cys364Tyr	p.C364Y	ENST00000313010	NM_005040.2	364	tGc/tAc	0			1			T	C/Y	uc001ozs.2	protein_coding		CCDS8262.1			1091/1491									skin(1)	1	c.(1090-1092)TGC>TAC			hmmpanther:PTHR11010,hmmpanther:PTHR11010:SF11,Pfam_domain:PF05577,Superfamily_domains:SSF53474	prolylcarboxypeptidase isoform 1 preproprotein				ENSP00000317362		9-Aug									COSM3398169,COSM3398168	9-Aug	.		ENST00000313010	Transcript			blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	ENSG00000137509	g.chr11:82549612C>T	9344			MODERATE		3.845	high	getma.org/?cm=msa&ty=f&p=PCP_HUMAN&rb=55&re=477&var=C364Y	getma.org/pdb.php?prot=PCP_HUMAN&from=55&to=477&var=C364Y	getma.org/?cm=var&var=hg19,11,82549612,C,T&fts=all	C364Y	--	--	1																																		PRCP_uc001ozr.2_Missense_Mutation_p.C385Y	1,1			probably_damaging(1)	p.C364Y	NM_005040	NP_005031		deleterious(0)	1,1	PCP_HUMAN	PRCP	HGNC	P42785	PCP_HUMAN			E9PR42_HUMAN,E9PQN3_HUMAN,E9PQB5_HUMAN,E9PLY4_HUMAN,E9PL85_HUMAN,E9PL49_HUMAN,E9PKN6_HUMAN,E9PIG4_HUMAN,B7Z7Q6_HUMAN,B3KR26_HUMAN		8	1204	-			UPI000004BA61	364					SNV	PRCP,missense_variant,p.Cys364Tyr,ENST00000313010,NM_005040.2;PRCP,missense_variant,p.Cys385Tyr,ENST00000393399,NM_199418.2;PRCP,missense_variant,p.Cys259Tyr,ENST00000535099,;PRCP,downstream_gene_variant,,ENST00000531801,;PRCP,non_coding_transcript_exon_variant,,ENST00000525772,;PRCP,non_coding_transcript_exon_variant,,ENST00000531283,;PRCP,non_coding_transcript_exon_variant,,ENST00000526918,;PRCP,non_coding_transcript_exon_variant,,ENST00000524642,;PRCP,downstream_gene_variant,,ENST00000532476,;PRCP,non_coding_transcript_exon_variant,,ENST00000532709,;RP11-718B12.5,downstream_gene_variant,,ENST00000527936,;	uc001ozs.2	c.1091G>A	1286/3090	2	2			c.1091G>A						11	SNP	c.(1090-1092)TGC>TAC	35	35			skin(1)	1	Broad	prolylcarboxypeptidase isoform 1 preproprotein			82549612		0.274	ENSG00000137509	12241	g.chr11:82549612C>T	blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity							-18.904025	KEEP	0	4	-1	50	73	0	4	-1	6.757489	50	73	0.036364	1	0	0	0	0	1	0	0	0	--	--		0	T			PRCP_uc001ozr.2_Missense_Mutation_p.C385Y	267	GBM-76-4927-TP	p.C364Y	C	TACTTCTGTGCAGGCCTAAGA	NM_005040	NP_005031	82549612	P42785	PCP_HUMAN	0			8	1204	-	T	T			Missense_Mutation	364						
PRDM11	56981	broad.mit.edu	GRCh37	11	45117447	45117447	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01	TCGA-06-0195-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263765.4:c.91G>A	p.Glu31Lys	p.E31K	ENST00000263765		31	Gag/Aag	0			1			A	E/K	uc001myo.2	protein_coding					91/1536									upper_aerodigestive_tract(1)	1	c.(91-93)GAG>AAG				PR domain containing 11				ENSP00000435976		7-Jan									COSM3397685	7-Jan	.		ENST00000530656	Transcript						ENSG00000019485	g.chr11:45117447G>A	13996			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=PRD11_HUMAN&rb=1&re=34&var=E31K	NA	getma.org/?cm=var&var=hg19,11,45117447,G,A&fts=all	E31K	--	--	1																																			1			benign(0)	p.E31K	NM_020229	NP_064614		tolerated_low_confidence(0.5)	1	PRD11_HUMAN	PRDM11	HGNC	Q9NQV5	PRD11_HUMAN			E9PJ09_HUMAN		2	340	+			UPI000013D45B	31					SNV	PRDM11,missense_variant,p.Glu31Lys,ENST00000263765,;PRDM11,missense_variant,p.Glu31Lys,ENST00000530656,;	uc001myo.2	c.91G>A	91/1536	2	2			c.91G>A						11	SNP	c.(91-93)GAG>AAG	34	34			upper_aerodigestive_tract(1)	1	Broad	PR domain containing 11			45117447		0.035	ENSG00000019485	12244	g.chr11:45117447G>A				NSCLC(118;1511 1736 6472 36603 43224)			NSCLC(118;1511 1736 6472 36603 43224)			112.991914	KEEP	17	20	-1	17	28	17	20	-1	113.062777	17	28	0.467532	1	0	0	0	0	1	0	0	0	--	--		0	A				45	GBM-06-0195-TP	p.E31K	G	ttaccagagagagaaagtaag	NM_020229	NP_064614	45117447	Q9NQV5	PRD11_HUMAN	0			2	340	+	A	A			Missense_Mutation	31						
PRDM12	0	broad.mit.edu	GRCh37	9	133540113	133540113	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000253008.2:c.73G>A	p.Ala25Thr	p.A25T	ENST00000253008	NM_021619.2	25	Gcc/Acc	0			1			A	A/T	uc004bzt.1	protein_coding	YES	CCDS6934.1			73/1104										0	c.(73-75)GCC>ACC			PIRSF_domain:PIRSF037163	PR domain containing 12				ENSP00000253008		5-Jan	8.31E-06					1.83E-05			rs774148627,COSM2153625	5-Jan	.		ENST00000253008	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000130711	g.chr9:133540113G>A	13997			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=PRD12_HUMAN&rb=1&re=69&var=A25T	NA	getma.org/?cm=var&var=hg19,9,133540113,G,A&fts=all	A25T	--	--	1																																			0,1	1		benign(0.058)	p.A25T	NM_021619	NP_067632		deleterious(0.01)	0,1	PRD12_HUMAN	PRDM12	HGNC	Q9H4Q4	PRD12_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000344)			1	133	+		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)	UPI0000132184	25					SNV	PRDM12,missense_variant,p.Ala25Thr,ENST00000253008,NM_021619.2;	uc004bzt.1	c.73G>A	133/2476	2	2			c.73G>A						9	SNP	c.(73-75)GCC>ACC	24	24				0	Broad	PR domain containing 12			133540113		0.577	ENSG00000130711	12245	g.chr9:133540113G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							74.798562	KEEP	14	15	-1	11	16	14	15	-1	74.817296	11	16	0.521739	1	0	0	0	0	1	0	0	0	--	--		0	A				120	GBM-12-0619-TP	p.A25T	G	ACTGGCGCTGGCCGAGGTTAT	NM_021619	NP_067632	133540113	Q9H4Q4	PRD12_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;0.000344)	1	133	+	A	A		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)	Missense_Mutation	25						
PRDM12	0	broad.mit.edu	GRCh37	9	133556658	133556658	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01	TCGA-32-4210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000253008.2:c.706G>A	p.Ala236Thr	p.A236T	ENST00000253008	NM_021619.2	236	Gcg/Acg	0			1			A	A/T	uc004bzt.1	protein_coding	YES	CCDS6934.1			706/1104										0	c.(706-708)GCG>ACG			PIRSF_domain:PIRSF037163	PR domain containing 12				ENSP00000253008		5-May									COSM3413383	5-May	.		ENST00000253008	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000130711	g.chr9:133556658G>A	13997			MODERATE		1.24	low	getma.org/?cm=msa&ty=f&p=PRD12_HUMAN&rb=70&re=256&var=A236T	NA	getma.org/?cm=var&var=hg19,9,133556658,G,A&fts=all	A236T	--	--	1																																			1	1		benign(0.001)	p.A236T	NM_021619	NP_067632		tolerated(0.38)	1	PRD12_HUMAN	PRDM12	HGNC	Q9H4Q4	PRD12_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000344)			5	766	+		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)	UPI0000132184	236					SNV	PRDM12,missense_variant,p.Ala236Thr,ENST00000253008,NM_021619.2;	uc004bzt.1	c.706G>A	766/2476	2	2			c.706G>A						9	SNP	c.(706-708)GCG>ACG	17	17				0	Broad	PR domain containing 12			133556658		0.622	ENSG00000130711	12245	g.chr9:133556658G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							7.852434	KEEP	2	0	-1	7	12	2	0	-1	7.924925	7	12	0.666667	1	0	0	0	0	1	0	0	0	--	--		0	A				245	GBM-32-4210-TP	p.A236T	G	GGCGGACTCGGCGGCTGGCCC	NM_021619	NP_067632	133556658	Q9H4Q4	PRD12_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;0.000344)	5	766	+	A	A		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)	Missense_Mutation	236						
PRDM13	59336	broad.mit.edu	GRCh37	6	100062050	100062050	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369215.4:c.1539G>A	p.Gly513=	p.G513=	ENST00000369215	NM_021620.3	513	ggG/ggA	0			1			A	G	uc003pqg.1	protein_coding	YES	CCDS43487.1			1539/2124										0	c.(1537-1539)GGG>GGA			hmmpanther:PTHR23228:SF119,hmmpanther:PTHR23228	PR domain containing 13				ENSP00000358217		4-Apr									COSM3410495,COSM3410496	4-Apr	.		ENST00000369215	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000112238	g.chr6:100062050G>A	13998			LOW								--	--	1																																			1,1	1			p.G513G	NM_021620	NP_067633			1,1	PRD13_HUMAN	PRDM13	HGNC	Q9H4Q3	PRD13_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0598)	Q7Z5E7_HUMAN		4	1800	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	UPI000047099D	513					SNV	PRDM13,synonymous_variant,p.=,ENST00000369215,NM_021620.3;PRDM13,3_prime_UTR_variant,,ENST00000369214,;	uc003pqg.1	c.1539G>A	1844/2429	1	1			c.1539G>A						6	SNP	c.(1537-1539)GGG>GGA	52	52				0	Broad	PR domain containing 13			100062050		0.662	ENSG00000112238	12246	g.chr6:100062050G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							49.876057	KEEP	9	11	-1	14	14	9	11	-1	49.928177	14	14	0.459459	1	0	0	0	0	0	0	1	0	--	--		0	A				8	GBM-02-2486-TP	p.G513G	G	CCGAGCTGGGGTCGCTGGCCA	NM_021620	NP_067633	100062050	Q9H4Q3	PRD13_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.0598)	4	1800	+	A	A		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	Silent	513						
PRDM13	0	broad.mit.edu	GRCh37	6	100062503	100062503	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5954-01	TCGA-19-5954-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369215.4:c.1992C>T	p.Asp664=	p.D664=	ENST00000369215	NM_021620.3	664	gaC/gaT	0			1			T	D	uc003pqg.1	protein_coding	YES	CCDS43487.1			1992/2124										0	c.(1990-1992)GAC>GAT			Low_complexity_(Seg):seg,hmmpanther:PTHR23228:SF119,hmmpanther:PTHR23228	PR domain containing 13				ENSP00000358217		4-Apr									COSM2156715,COSM2156716	4-Apr	.		ENST00000369215	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000112238	g.chr6:100062503C>T	13998			LOW								--	--	1																																			1,1	1			p.D664D	NM_021620	NP_067633			1,1	PRD13_HUMAN	PRDM13	HGNC	Q9H4Q3	PRD13_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0598)	Q7Z5E7_HUMAN		4	2253	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	UPI000047099D	664					SNV	PRDM13,synonymous_variant,p.=,ENST00000369215,NM_021620.3;PRDM13,3_prime_UTR_variant,,ENST00000369214,;	uc003pqg.1	c.1992C>T	2297/2429	1	1			c.1992C>T						6	SNP	c.(1990-1992)GAC>GAT	15	15				0	Broad	PR domain containing 13			100062503		0.687	ENSG00000112238	12246	g.chr6:100062503C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							41.445725	KEEP	5	10	-1	8	12	5	10	-1	41.508985	8	12	0.451613	1	0	0	0	0	0	0	1	0	--	--		0	T				174	GBM-19-5954-TP	p.D664D	C	AAGCGGGCGACGGCCCGGGTG	NM_021620	NP_067633	100062503	Q9H4Q3	PRD13_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.0598)	4	2253	+	T	T		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	Silent	664						
PRDM14	63978		GRCh37	8	70964463	70964463	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000276594.2:c.1565G>T	p.Cys522Phe	p.C522F	ENST00000276594	NM_024504.3	522	tGt/tTt	0																																																																																																																																																																																																																																												
PRDM15	63977	broad.mit.edu	GRCh37	21	43230603	43230603	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0155-01	TCGA-06-0155-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269844.3:c.3657C>T	p.His1219=	p.H1219=	ENST00000269844	NM_022115.3	1219	caC/caT	0			1			A	H	uc002yzq.1	protein_coding	YES	CCDS13676.1			3657/4524										0	c.(3655-3657)CAC>CAT			PROSITE_profiles:PS50157,hmmpanther:PTHR24387:SF6,hmmpanther:PTHR24387,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355	PR domain containing 15 isoform 1				ENSP00000269844		28/31	8.24E-06			0.000117					rs201676459,COSM2149969	28/31	.		ENST00000269844	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000141956	g.chr21:43230603G>A	13999			LOW								--	--	1																																		PRDM15_uc002yzo.2_Silent_p.H890H|PRDM15_uc002yzp.2_Silent_p.H910H|PRDM15_uc002yzr.1_Silent_p.H910H	0,1	1			p.H1219H	NM_022115	NP_071398			0,1	PRD15_HUMAN	PRDM15	HGNC	P57071	PRD15_HUMAN					28	3768	-			UPI0000456FFA	1219			C2H2-type 15.		SNV	PRDM15,synonymous_variant,p.=,ENST00000422911,NM_001282934.1;PRDM15,synonymous_variant,p.=,ENST00000538201,;PRDM15,synonymous_variant,p.=,ENST00000398548,NM_001040424.1;PRDM15,synonymous_variant,p.=,ENST00000447207,;PRDM15,synonymous_variant,p.=,ENST00000269844,NM_022115.3;PRDM15,non_coding_transcript_exon_variant,,ENST00000470586,;PRDM15,non_coding_transcript_exon_variant,,ENST00000495217,;PRDM15,synonymous_variant,p.=,ENST00000433067,;PRDM15,synonymous_variant,p.=,ENST00000447016,;PRDM15,3_prime_UTR_variant,,ENST00000449395,;PRDM15,3_prime_UTR_variant,,ENST00000441787,;PRDM15,non_coding_transcript_exon_variant,,ENST00000486812,;	uc002yzq.1	c.3657C>T	3768/4710	2	2			c.3657C>T						21	SNP	c.(3655-3657)CAC>CAT	33	33				0	Broad	PR domain containing 15 isoform 1			43230603		0.612	ENSG00000141956	12248	g.chr21:43230603G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							19.692558	KEEP	5	5	-1	9	15	5	5	-1	21.505404	9	15	0.25	1	0	0	0	0	0	0	1	0	--	--		0	A			PRDM15_uc002yzo.2_Silent_p.H890H|PRDM15_uc002yzp.2_Silent_p.H910H|PRDM15_uc002yzr.1_Silent_p.H910H	27	GBM-06-0155-TP	p.H1219H	G	CCACCTTGTCGTGTGTGAGCT	NM_022115	NP_071398	43230603	P57071	PRD15_HUMAN	0			28	3768	-	A	A			Silent	1219			C2H2-type 15.			
PRDM15	0	broad.mit.edu	GRCh37	21	43281674	43281674	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01	TCGA-19-2625-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269844.3:c.889C>T	p.Pro297Ser	p.P297S	ENST00000269844	NM_022115.3	297	Ccg/Tcg	0			1			A	P/S	uc002yzq.1	protein_coding	YES	CCDS13676.1			889/4524										0	c.(889-891)CCG>TCG				PR domain containing 15 isoform 1				ENSP00000269844		31-Jul									COSM3405403	31-Jul	.		ENST00000269844	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000141956	g.chr21:43281674G>A	13999			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=PRD15_HUMAN&rb=291&re=659&var=P297S	NA	getma.org/?cm=var&var=hg19,21,43281674,G,A&fts=all	P297S	--	--	1																																		PRDM15_uc002yzo.2_Intron|PRDM15_uc002yzp.2_Intron|PRDM15_uc002yzr.1_Intron	1	1		benign(0)	p.P297S	NM_022115	NP_071398		tolerated_low_confidence(0.07)	1	PRD15_HUMAN	PRDM15	HGNC	P57071	PRD15_HUMAN					7	1000	-			UPI0000456FFA	297					SNV	PRDM15,missense_variant,p.Pro297Ser,ENST00000269844,NM_022115.3;PRDM15,intron_variant,,ENST00000422911,NM_001282934.1;PRDM15,intron_variant,,ENST00000538201,;PRDM15,intron_variant,,ENST00000398548,NM_001040424.1;PRDM15,upstream_gene_variant,,ENST00000447207,;PRDM15,missense_variant,p.Pro297Ser,ENST00000433067,;PRDM15,intron_variant,,ENST00000449395,;PRDM15,intron_variant,,ENST00000441787,;PRDM15,intron_variant,,ENST00000447016,;	uc002yzq.1	c.889C>T	1000/4710	1	1			c.889C>T						21	SNP	c.(889-891)CCG>TCG	49	49				0	Broad	PR domain containing 15 isoform 1			43281674		0.463	ENSG00000141956	12248	g.chr21:43281674G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-33.145906	KEEP	2	3	-1	96	81	2	3	-1	6.610136	96	81	0.025157	1	0	0	0	0	1	0	0	0	--	--		0	A			PRDM15_uc002yzo.2_Intron|PRDM15_uc002yzp.2_Intron|PRDM15_uc002yzr.1_Intron	165	GBM-19-2625-TP	p.P297S	G	GTGCGCACCGGCATGTCCTTC	NM_022115	NP_071398	43281674	P57071	PRD15_HUMAN	0			7	1000	-	A	A			Missense_Mutation	297						
PRDM15	0	broad.mit.edu	GRCh37	21	43230571	43230571	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01	TCGA-32-4719-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269844.3:c.3689G>A	p.Cys1230Tyr	p.C1230Y	ENST00000269844	NM_022115.3	1230	tGc/tAc	0			1			T	C/Y	uc002yzq.1	protein_coding	YES	CCDS13676.1			3689/4524										0	c.(3688-3690)TGC>TAC			hmmpanther:PTHR24387:SF6,hmmpanther:PTHR24387,PROSITE_patterns:PS00028,Pfam_domain:PF13894,SMART_domains:SM00355	PR domain containing 15 isoform 1				ENSP00000269844		28/31									COSM2157406	28/31	.		ENST00000269844	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000141956	g.chr21:43230571C>T	13999			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=PRD15_HUMAN&rb=1206&re=1268&var=C1230Y	NA	getma.org/?cm=var&var=hg19,21,43230571,C,T&fts=all	C1230Y	--	--	1																																		PRDM15_uc002yzo.2_Missense_Mutation_p.C901Y|PRDM15_uc002yzp.2_Missense_Mutation_p.C921Y|PRDM15_uc002yzr.1_Missense_Mutation_p.C921Y	1	1		probably_damaging(0.995)	p.C1230Y	NM_022115	NP_071398		deleterious(0)	1	PRD15_HUMAN	PRDM15	HGNC	P57071	PRD15_HUMAN					28	3800	-			UPI0000456FFA	1230			C2H2-type 16.		SNV	PRDM15,missense_variant,p.Cys921Tyr,ENST00000422911,NM_001282934.1;PRDM15,missense_variant,p.Cys884Tyr,ENST00000538201,;PRDM15,missense_variant,p.Cys901Tyr,ENST00000398548,NM_001040424.1;PRDM15,missense_variant,p.Cys864Tyr,ENST00000447207,;PRDM15,missense_variant,p.Cys1230Tyr,ENST00000269844,NM_022115.3;PRDM15,non_coding_transcript_exon_variant,,ENST00000470586,;PRDM15,non_coding_transcript_exon_variant,,ENST00000495217,;PRDM15,missense_variant,p.Cys1230Tyr,ENST00000433067,;PRDM15,missense_variant,p.Cys864Tyr,ENST00000447016,;PRDM15,3_prime_UTR_variant,,ENST00000449395,;PRDM15,3_prime_UTR_variant,,ENST00000441787,;PRDM15,non_coding_transcript_exon_variant,,ENST00000486812,;	uc002yzq.1	c.3689G>A	3800/4710	2	2			c.3689G>A						21	SNP	c.(3688-3690)TGC>TAC	22	22				0	Broad	PR domain containing 15 isoform 1			43230571		0.652	ENSG00000141956	12248	g.chr21:43230571C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							18.344764	KEEP	5	5	-1	17	24	5	5	-1	21.915741	17	24	0.204545	1	0	0	0	0	1	0	0	0	--	--		0	T			PRDM15_uc002yzo.2_Missense_Mutation_p.C901Y|PRDM15_uc002yzp.2_Missense_Mutation_p.C921Y|PRDM15_uc002yzr.1_Missense_Mutation_p.C921Y	248	GBM-32-4719-TP	p.C1230Y	C	CTTGGTCCCGCACAGCTGGCA	NM_022115	NP_071398	43230571	P57071	PRD15_HUMAN	0			28	3800	-	T	T			Missense_Mutation	1230			C2H2-type 16.			
PRDM5	0	broad.mit.edu	GRCh37	4	121720881	121720884	+	frameshift_variant	Frame_Shift_Del	DEL	CAAT	CAAT	-	rs34666716	byFrequency;by1000genomes	TCGA-27-1835-01	TCGA-27-1835-01	CAAT	CAAT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264808.3:c.962_965delATTG	p.Asp321ValfsTer5	p.D321Vfs*5	ENST00000264808	NM_018699.2	321	gATTGt/gt	0			1			-	DC/X	uc003idn.2	protein_coding	YES	CCDS3716.1			962-965/1893									central_nervous_system(1)|pancreas(1)	2	c.(961-966)GATTGTfs			PROSITE_profiles:PS50157,hmmpanther:PTHR24409:SF17,hmmpanther:PTHR24409,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,PIRSF_domain:PIRSF037162,SMART_domains:SM00355,Superfamily_domains:SSF57667	PR domain containing 5				ENSP00000264808		16-Sep										16-Sep	.		ENST00000264808	Transcript	1		histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	ENSG00000138738	g.chr4:121720881_121720884delCAAT	9349			HIGH								--	--	1																																		PRDM5_uc003ido.2_Frame_Shift_Del_p.D290fs|PRDM5_uc010ine.2_Frame_Shift_Del_p.D290fs		1			p.D321fs	NM_018699	NP_061169				PRDM5_HUMAN	PRDM5	HGNC	Q9NQX1	PRDM5_HUMAN					9	1212_1215	-			UPI000013D572	321_322			C2H2-type 6.		deletion	PRDM5,frameshift_variant,p.Asp321ValfsTer5,ENST00000264808,NM_018699.2;PRDM5,frameshift_variant,p.Asp290ValfsTer5,ENST00000428209,;PRDM5,frameshift_variant,p.Asp290ValfsTer5,ENST00000515109,;PRDM5,3_prime_UTR_variant,,ENST00000502409,;PRDM5,non_coding_transcript_exon_variant,,ENST00000505484,;PRDM5,non_coding_transcript_exon_variant,,ENST00000503661,;	uc003idn.2	c.962_965delATTG	1203-1206/5330	5	5			c.962_965delATTG						4	DEL	c.(961-966)GATTGTfs	57	57			central_nervous_system(1)|pancreas(1)	2	Broad	PR domain containing 5			121720884		0.309	ENSG00000138738	12252	g.chr4:121720881_121720884delCAAT	histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding																				0.36	1	1	0	1	0	0	0	0	0	--	--		0	-			PRDM5_uc003ido.2_Frame_Shift_Del_p.D290fs|PRDM5_uc010ine.2_Frame_Shift_Del_p.D290fs	194	GBM-27-1835-TP	p.D321fs	CAAT	ACATTCTTGACAATCAAATATCTC	NM_018699	NP_061169	121720881	Q9NQX1	PRDM5_HUMAN	0			9	1212_1215	-	-	-			Frame_Shift_Del	321_322			C2H2-type 6.			
PRDM9	56979	broad.mit.edu	GRCh37	5	23527680	23527680	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0210-01	TCGA-06-0210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296682.3:c.2483G>T	p.Gly828Val	p.G828V	ENST00000296682	NM_020227.2	828	gGg/gTg	0			1			T	G/V	uc003jgo.2	protein_coding	YES	CCDS43307.1			2483/2685									ovary(3)|large_intestine(2)|pancreas(1)	6	c.(2482-2484)GGG>GTG			Superfamily_domains:SSF57667,Gene3D:3.30.160.60,Pfam_domain:PF13465,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF21,PROSITE_profiles:PS50157	PR domain containing 9				ENSP00000296682		11-Nov									COSM3410222	11-Nov	.		ENST00000296682	Transcript			meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	ENSG00000164256	g.chr5:23527680G>T	13994			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=PRDM9_HUMAN&rb=798&re=863&var=G828V	getma.org/pdb.php?prot=PRDM9_HUMAN&from=818&to=843&var=G828V	getma.org/?cm=var&var=hg19,5,23527680,G,T&fts=all	G828V	--	--	1				HNSCC(3;0.000094)																															1	1		probably_damaging(0.998)	p.G828V	NM_020227	NP_064612		deleterious(0.01)	1	PRDM9_HUMAN	PRDM9	HGNC	Q9NQV7	PRDM9_HUMAN			D6RD68_HUMAN,D2KI85_HUMAN,D2E453_HUMAN		11	2665	+			UPI00006C9E90	828					SNV	PRDM9,missense_variant,p.Gly828Val,ENST00000296682,NM_020227.2;	uc003jgo.2	c.2483G>T	2665/3691	2	2			c.2483G>T						5	SNP	c.(2482-2484)GGG>GTG	45	45			ovary(3)|large_intestine(2)|pancreas(1)	6	Broad	PR domain containing 9			23527680		0.582	ENSG00000164256	12255	g.chr5:23527680G>T	meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding							29.056033	KEEP	18	21	0.461538462	132	128	18	21	0.461538462	58.534642	132	128	0.125581	1	0	0	0	0	1	0	0	0	--	--	HNSCC(3;0.000094)	0	T				47	GBM-06-0210-TP	p.G828V	G	ACACACACAGGGGAGAAGCCC	NM_020227	NP_064612	23527680	Q9NQV7	PRDM9_HUMAN	0			11	2665	+	T	T			Missense_Mutation	828						
PRDM9	56979	broad.mit.edu	GRCh37	5	23527628	23527628	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01	TCGA-06-0219-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296682.3:c.2431C>T	p.Arg811Trp	p.R811W	ENST00000296682	NM_020227.2	811	Cgg/Tgg	0			1			T	R/W	uc003jgo.2	protein_coding	YES	CCDS43307.1			2431/2685									ovary(3)|large_intestine(2)|pancreas(1)	6	c.(2431-2433)CGG>TGG			Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF21,PROSITE_profiles:PS50157	PR domain containing 9				ENSP00000296682		11-Nov	8.28E-06							6.07E-05	rs775272924,COSM3748302	11-Nov	.		ENST00000296682	Transcript			meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	ENSG00000164256	g.chr5:23527628C>T	13994			MODERATE		2.205	medium	getma.org/?cm=msa&ty=f&p=PRDM9_HUMAN&rb=770&re=835&var=R811W	getma.org/pdb.php?prot=PRDM9_HUMAN&from=790&to=815&var=R811W	getma.org/?cm=var&var=hg19,5,23527628,C,T&fts=all	R811W	--	--	1				HNSCC(3;0.000094)																															0,1	1		probably_damaging(0.999)	p.R811W	NM_020227	NP_064612		deleterious(0.01)	0,1	PRDM9_HUMAN	PRDM9	HGNC	Q9NQV7	PRDM9_HUMAN			D6RD68_HUMAN,D2KI85_HUMAN,D2E453_HUMAN		11	2613	+			UPI00006C9E90	811			C2H2-type 12.		SNV	PRDM9,missense_variant,p.Arg811Trp,ENST00000296682,NM_020227.2;	uc003jgo.2	c.2431C>T	2613/3691	2	2			c.2431C>T						5	SNP	c.(2431-2433)CGG>TGG	47	47			ovary(3)|large_intestine(2)|pancreas(1)	6	Broad	PR domain containing 9			23527628		0.572	ENSG00000164256	12255	g.chr5:23527628C>T	meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding							66.112114	KEEP	23	22	-1	99	116	23	22	-1	83.249726	99	116	0.189474	1	0	0	0	0	1	0	0	0	--	--	HNSCC(3;0.000094)	0	T				52	GBM-06-0219-TP	p.R811W	C	GGAGTGTGGGCGGGGCTTTAG	NM_020227	NP_064612	23527628	Q9NQV7	PRDM9_HUMAN	0			11	2613	+	T	T			Missense_Mutation	811			C2H2-type 12.			
PRDM9	56979	broad.mit.edu	GRCh37	5	23523414	23523414	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0743-01	TCGA-06-0743-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296682.3:c.897A>G	p.Arg299=	p.R299=	ENST00000296682	NM_020227.2	299	agA/agG	0			1			G	R	uc003jgo.2	protein_coding	YES	CCDS43307.1			897/2685									ovary(3)|large_intestine(2)|pancreas(1)	6	c.(895-897)AGA>AGG			Superfamily_domains:SSF82199,Gene3D:2.170.270.10,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF21,PROSITE_profiles:PS50280	PR domain containing 9				ENSP00000296682		11-Sep									COSM3410217	11-Sep	.		ENST00000296682	Transcript			meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	ENSG00000164256	g.chr5:23523414A>G	13994			LOW								--	--	1				HNSCC(3;0.000094)																															1	1			p.R299R	NM_020227	NP_064612			1	PRDM9_HUMAN	PRDM9	HGNC	Q9NQV7	PRDM9_HUMAN			D6RD68_HUMAN,D2KI85_HUMAN,D2E453_HUMAN		9	1079	+			UPI00006C9E90	299			SET.		SNV	PRDM9,synonymous_variant,p.=,ENST00000296682,NM_020227.2;	uc003jgo.2	c.897A>G	1079/3691	3	3			c.897A>G						5	SNP	c.(895-897)AGA>AGG	56	56			ovary(3)|large_intestine(2)|pancreas(1)	6	Broad	PR domain containing 9			23523414		0.428	ENSG00000164256	12255	g.chr5:23523414A>G	meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding							98.516749	KEEP	15	14	-1	33	20	15	14	-1	99.372048	33	20	0.383562	1	0	0	0	0	0	0	1	0	--	--	HNSCC(3;0.000094)	0	G				65	GBM-06-0743-TP	p.R299R	A	CCAAGGGGAGAAACTGCTATG	NM_020227	NP_064612	23523414	Q9NQV7	PRDM9_HUMAN	0			9	1079	+	G	G			Silent	299			SET.			
PRDM9	56979	broad.mit.edu	GRCh37	5	23526957	23526957	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01	TCGA-06-2559-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296682.3:c.1760G>A	p.Arg587Gln	p.R587Q	ENST00000296682	NM_020227.2	587	cGg/cAg	0			1			A	R/Q	uc003jgo.2	protein_coding	YES	CCDS43307.1			1760/2685									ovary(3)|large_intestine(2)|pancreas(1)	6	c.(1759-1761)CGG>CAG			Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF21,PROSITE_profiles:PS50157	PR domain containing 9				ENSP00000296682		11-Nov									COSM2152702	11-Nov	.		ENST00000296682	Transcript			meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	ENSG00000164256	g.chr5:23526957G>A	13994			MODERATE		1.07	low	getma.org/?cm=msa&ty=f&p=PRDM9_HUMAN&rb=546&re=611&var=R587Q	getma.org/pdb.php?prot=PRDM9_HUMAN&from=566&to=591&var=R587Q	getma.org/?cm=var&var=hg19,5,23526957,G,A&fts=all	R587Q	--	--	1				HNSCC(3;0.000094)																															1	1		probably_damaging(0.995)	p.R587Q	NM_020227	NP_064612		tolerated(0.12)	1	PRDM9_HUMAN	PRDM9	HGNC	Q9NQV7	PRDM9_HUMAN			D6RD68_HUMAN,D2KI85_HUMAN,D2E453_HUMAN		11	1942	+			UPI00006C9E90	587			C2H2-type 4.		SNV	PRDM9,missense_variant,p.Arg587Gln,ENST00000296682,NM_020227.2;	uc003jgo.2	c.1760G>A	1942/3691	2	2			c.1760G>A						5	SNP	c.(1759-1761)CGG>CAG	32	32			ovary(3)|large_intestine(2)|pancreas(1)	6	Broad	PR domain containing 9			23526957		0.607	ENSG00000164256	12255	g.chr5:23526957G>A	meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding							147.696195	KEEP	46	36	-1	64	57	46	36	-1	148.959455	64	57	0.393701	1	0	0	0	0	1	0	0	0	--	--	HNSCC(3;0.000094)	0	A				83	GBM-06-2559-TP	p.R587Q	G	GAGTGTGGGCGGGGCTTTAGC	NM_020227	NP_064612	23526957	Q9NQV7	PRDM9_HUMAN	0			11	1942	+	A	A			Missense_Mutation	587			C2H2-type 4.			
PRDM9	0	broad.mit.edu	GRCh37	5	23523456	23523456	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-14-1034-01	TCGA-14-1034-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296682.3:c.939C>A	p.Ala313=	p.A313=	ENST00000296682	NM_020227.2	313	gcC/gcA	0			1			A	A	uc003jgo.2	protein_coding	YES	CCDS43307.1			939/2685									ovary(3)|large_intestine(2)|pancreas(1)	6	c.(937-939)GCC>GCA			Superfamily_domains:SSF82199,Gene3D:2.170.270.10,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF21,PROSITE_profiles:PS50280	PR domain containing 9				ENSP00000296682		11-Sep									COSM2155191	11-Sep	.		ENST00000296682	Transcript			meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	ENSG00000164256	g.chr5:23523456C>A	13994			LOW								--	--	1				HNSCC(3;0.000094)																															1	1			p.A313A	NM_020227	NP_064612			1	PRDM9_HUMAN	PRDM9	HGNC	Q9NQV7	PRDM9_HUMAN			D6RD68_HUMAN,D2KI85_HUMAN,D2E453_HUMAN		9	1121	+			UPI00006C9E90	313			SET.		SNV	PRDM9,synonymous_variant,p.=,ENST00000296682,NM_020227.2;	uc003jgo.2	c.939C>A	1121/3691	1	1			c.939C>A						5	SNP	c.(937-939)GCC>GCA	62	62			ovary(3)|large_intestine(2)|pancreas(1)	6	Broad	PR domain containing 9			23523456		0.438	ENSG00000164256	12255	g.chr5:23523456C>A	meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding							58.078475	KEEP	7	21	0.75	29	42	7	21	0.75	62.284723	29	42	0.267442	1	0	0	0	0	0	0	1	0	--	--	HNSCC(3;0.000094)	0	A				142	GBM-14-1034-TP	p.A313A	C	AATCCTGGGCCAACTGGATGA	NM_020227	NP_064612	23523456	Q9NQV7	PRDM9_HUMAN	0			9	1121	+	A	A			Silent	313			SET.			
PRDM9	0	broad.mit.edu	GRCh37	5	23527545	23527545	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5950-01	TCGA-19-5950-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296682.3:c.2348G>A	p.Arg783Gln	p.R783Q	ENST00000296682	NM_020227.2	783	cGg/cAg	0			1			A	R/Q	uc003jgo.2	protein_coding	YES	CCDS43307.1			2348/2685									ovary(3)|large_intestine(2)|pancreas(1)	6	c.(2347-2349)CGG>CAG			Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF21,PROSITE_profiles:PS50157	PR domain containing 9				ENSP00000296682		11-Nov	2.47E-05					4.51E-05			rs747179714,COSM2156567	11-Nov	.		ENST00000296682	Transcript			meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	ENSG00000164256	g.chr5:23527545G>A	13994			MODERATE		1.425	low	getma.org/?cm=msa&ty=f&p=PRDM9_HUMAN&rb=742&re=806&var=R783Q	getma.org/pdb.php?prot=PRDM9_HUMAN&from=762&to=786&var=R783Q	getma.org/?cm=var&var=hg19,5,23527545,G,A&fts=all	R783Q	--	--	1				HNSCC(3;0.000094)																															0,1	1		unknown(0)	p.R783Q	NM_020227	NP_064612		tolerated(0.17)	0,1	PRDM9_HUMAN	PRDM9	HGNC	Q9NQV7	PRDM9_HUMAN			D6RD68_HUMAN,D2KI85_HUMAN,D2E453_HUMAN		11	2530	+			UPI00006C9E90	783			C2H2-type 11.		SNV	PRDM9,missense_variant,p.Arg783Gln,ENST00000296682,NM_020227.2;	uc003jgo.2	c.2348G>A	2530/3691	2	2			c.2348G>A						5	SNP	c.(2347-2349)CGG>CAG	41	41			ovary(3)|large_intestine(2)|pancreas(1)	6	Broad	PR domain containing 9			23527545		0.577	ENSG00000164256	12255	g.chr5:23527545G>A	meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding							158.122387	KEEP	30	27	-1	45	55	30	27	-1	159.846108	45	55	0.381295	1	0	0	0	0	1	0	0	0	--	--	HNSCC(3;0.000094)	0	A				170	GBM-19-5950-TP	p.R783Q	G	GAGTGTGGGCGGGGCTTTAGA	NM_020227	NP_064612	23527545	Q9NQV7	PRDM9_HUMAN	0			11	2530	+	A	A			Missense_Mutation	783			C2H2-type 11.			
PRDM9	0	broad.mit.edu	GRCh37	5	23527861	23527861	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2491-01	TCGA-32-2491-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296682.3:c.2664C>T	p.Tyr888=	p.Y888=	ENST00000296682	NM_020227.2	888	taC/taT	0			1			T	Y	uc003jgo.2	protein_coding	YES	CCDS43307.1			2664/2685									ovary(3)|large_intestine(2)|pancreas(1)	6	c.(2662-2664)TAC>TAT			Superfamily_domains:SSF57667,Gene3D:3.30.160.60,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF21	PR domain containing 9				ENSP00000296682		11-Nov	1.65E-05	0.000102				1.50E-05			rs748406023,COSM1436895	11-Nov	.		ENST00000296682	Transcript			meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	ENSG00000164256	g.chr5:23527861C>T	13994			LOW								--	--	1				HNSCC(3;0.000094)																															0,1	1			p.Y888Y	NM_020227	NP_064612			0,1	PRDM9_HUMAN	PRDM9	HGNC	Q9NQV7	PRDM9_HUMAN			D6RD68_HUMAN,D2KI85_HUMAN,D2E453_HUMAN		11	2846	+			UPI00006C9E90	888					SNV	PRDM9,synonymous_variant,p.=,ENST00000296682,NM_020227.2;	uc003jgo.2	c.2664C>T	2846/3691	2	2			c.2664C>T						5	SNP	c.(2662-2664)TAC>TAT	45	45			ovary(3)|large_intestine(2)|pancreas(1)	6	Broad	PR domain containing 9			23527861		0.527	ENSG00000164256	12255	g.chr5:23527861C>T	meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding							57.942841	KEEP	11	16	-1	35	37	11	16	-1	62.021931	35	37	0.2625	1	0	0	0	0	0	0	1	0	--	--	HNSCC(3;0.000094)	0	T				235	GBM-32-2491-TP	p.Y888Y	C	AGAAGCCCTACGTCTGCAGGG	NM_020227	NP_064612	23527861	Q9NQV7	PRDM9_HUMAN	0			11	2846	+	T	T			Silent	888						
PRDM9	0	broad.mit.edu	GRCh37	5	23522425	23522425	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-2634-01	TCGA-32-2634-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296682.3:c.521A>G	p.Lys174Arg	p.K174R	ENST00000296682	NM_020227.2	174	aAg/aGg	0			1			G	K/R	uc003jgo.2	protein_coding	YES	CCDS43307.1			521/2685									ovary(3)|large_intestine(2)|pancreas(1)	6	c.(520-522)AAG>AGG			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF09514,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF21	PR domain containing 9				ENSP00000296682		11-Jul									COSM3410215	11-Jul	.		ENST00000296682	Transcript			meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	ENSG00000164256	g.chr5:23522425A>G	13994			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=PRDM9_HUMAN&rb=170&re=202&var=K174R	NA	getma.org/?cm=var&var=hg19,5,23522425,A,G&fts=all	K174R	--	--	1				HNSCC(3;0.000094)																															1	1		possibly_damaging(0.618)	p.K174R	NM_020227	NP_064612		tolerated(0.09)	1	PRDM9_HUMAN	PRDM9	HGNC	Q9NQV7	PRDM9_HUMAN			D6RD68_HUMAN,D2KI85_HUMAN,D2E453_HUMAN		7	703	+			UPI00006C9E90	174					SNV	PRDM9,missense_variant,p.Lys174Arg,ENST00000296682,NM_020227.2;	uc003jgo.2	c.521A>G	703/3691	3	3			c.521A>G						5	SNP	c.(520-522)AAG>AGG	8	8			ovary(3)|large_intestine(2)|pancreas(1)	6	Broad	PR domain containing 9			23522425		0.428	ENSG00000164256	12255	g.chr5:23522425A>G	meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding							291.780307	KEEP	40	49	-1	63	66	40	49	-1	292.87528	63	66	0.418848	1	0	0	0	0	1	0	0	0	--	--	HNSCC(3;0.000094)	0	G				241	GBM-32-2634-TP	p.K174R	A	CTCAGGAAGAAGGAGACTGAA	NM_020227	NP_064612	23522425	Q9NQV7	PRDM9_HUMAN	0			7	703	+	G	G			Missense_Mutation	174						
PRDM9	56979		GRCh37	5	23526688	23526688	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000296682.3:c.1491G>C	p.Glu497Asp	p.E497D	ENST00000296682	NM_020227.2	497	gaG/gaC	0																																																																																																																																																																																																																																												
PRDM9	56979		GRCh37	5	23526750	23526750	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000296682.3:c.1553T>A	p.Ile518Asn	p.I518N	ENST00000296682	NM_020227.2	518	aTc/aAc	0																																																																																																																																																																																																																																												
PREP	0	broad.mit.edu	GRCh37	6	105771589	105771589	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs141737006		TCGA-19-5950-01	TCGA-19-5950-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369110.3:c.1268G>A	p.Arg423Gln	p.R423Q	ENST00000369110	NM_002726.4	423	cGa/cAa	0	T:0.0002	T:0	1	T:0		T	R/Q	uc003prc.2	protein_coding	YES	CCDS5053.1			1268/2133									ovary(3)	3	c.(1267-1269)CGA>CAA			hmmpanther:PTHR11757:SF2,hmmpanther:PTHR11757,Gene3D:2xdwA02	prolyl endopeptidase	Oxytocin(DB00107)	T:0	T:0.0001	ENSP00000358106	T:0.001	15-Oct	4.12E-05	9.62E-05	0.000173			3.00E-05			rs141737006,COSM2156564	15-Oct	.		ENST00000369110	Transcript		T:0.0002	proteolysis		serine-type endopeptidase activity	ENSG00000085377	g.chr6:105771589C>T	9358			MODERATE		1.91	medium	getma.org/?cm=msa&ty=f&p=PPCE_HUMAN&rb=7&re=423&var=R423Q	getma.org/pdb.php?prot=PPCE_HUMAN&from=7&to=423&var=R423Q	getma.org/?cm=var&var=hg19,6,105771589,C,T&fts=all	R423Q	--	--	1																																			0,1	1		benign(0.124)	p.R423Q	NM_002726	NP_002717	T:0	deleterious(0.03)	0,1	PPCE_HUMAN	PREP	HGNC	P48147	PPCE_HUMAN					10	1471	-		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)	UPI000006E28E	423					SNV	PREP,missense_variant,p.Arg423Gln,ENST00000369110,NM_002726.4;PREP,missense_variant,p.Arg19Gln,ENST00000448705,;	uc003prc.2	c.1268G>A	1461/2905	1	1			c.1268G>A						6	SNP	c.(1267-1269)CGA>CAA	2	2			ovary(3)	3	Broad	prolyl endopeptidase		Oxytocin(DB00107)	105771589		0.408	ENSG00000085377	12266	g.chr6:105771589C>T	proteolysis		serine-type endopeptidase activity							94.545035	KEEP	18	22	-1	42	49	18	22	-1	99.370694	42	49	0.284483	1	0	0	0	0	1	0	0	0	--	--		0	T				170	GBM-19-5950-TP	p.R423Q	C	GGTCACCTCTCGGAAAACTCT	NM_002726	NP_002717	105771589	P48147	PPCE_HUMAN	0			10	1471	-	T	T		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)	Missense_Mutation	423						
PREP	0	broad.mit.edu	GRCh37	6	105800946	105800946	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5139-01	TCGA-26-5139-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369110.3:c.724G>A	p.Asp242Asn	p.D242N	ENST00000369110	NM_002726.4	242	Gat/Aat	0			1			T	D/N	uc003prc.2	protein_coding	YES	CCDS5053.1			724/2133									ovary(3)	3	c.(724-726)GAT>AAT			hmmpanther:PTHR11757:SF2,hmmpanther:PTHR11757,Gene3D:2xdwA02,Pfam_domain:PF02897,Superfamily_domains:SSF50993	prolyl endopeptidase	Oxytocin(DB00107)			ENSP00000358106		15-Jul									COSM2157153	15-Jul	.		ENST00000369110	Transcript			proteolysis		serine-type endopeptidase activity	ENSG00000085377	g.chr6:105800946C>T	9358			MODERATE		2.37	medium	getma.org/?cm=msa&ty=f&p=PPCE_HUMAN&rb=7&re=423&var=D242N	getma.org/pdb.php?prot=PPCE_HUMAN&from=7&to=423&var=D242N	getma.org/?cm=var&var=hg19,6,105800946,C,T&fts=all	D242N	--	--	1																																			1	1		benign(0.071)	p.D242N	NM_002726	NP_002717		deleterious(0.02)	1	PPCE_HUMAN	PREP	HGNC	P48147	PPCE_HUMAN					7	927	-		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)	UPI000006E28E	242					SNV	PREP,missense_variant,p.Asp242Asn,ENST00000369110,NM_002726.4;	uc003prc.2	c.724G>A	917/2905	2	2			c.724G>A						6	SNP	c.(724-726)GAT>AAT	41	41			ovary(3)	3	Broad	prolyl endopeptidase		Oxytocin(DB00107)	105800946		0.353	ENSG00000085377	12266	g.chr6:105800946C>T	proteolysis		serine-type endopeptidase activity							224.314127	KEEP	50	57	-1	92	96	50	57	-1	229.128755	92	96	0.360714	1	0	0	0	0	1	0	0	0	--	--		0	T				186	GBM-26-5139-TP	p.D242N	C	CGGCCATCATCAGATAACTAA	NM_002726	NP_002717	105800946	P48147	PPCE_HUMAN	0			7	927	-	T	T		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)	Missense_Mutation	242						
PREX1	57580	broad.mit.edu	GRCh37	20	47244458	47244458	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0152-01	TCGA-06-0152-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371941.3:c.4810C>T	p.Arg1604Trp	p.R1604W	ENST00000371941	NM_020820.3	1604	Cgg/Tgg	0			1			A	R/W	uc002xtw.1	protein_coding	YES	CCDS13410.1			4810/4980									lung(3)|ovary(2)|pancreas(1)	6	c.(4810-4812)CGG>TGG			hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF6	phosphatidylinositol-3,4,				ENSP00000361009		38/40									COSM478249	38/40	.		ENST00000371941	Transcript			actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	ENSG00000124126	g.chr20:47244458G>A	32594			MODERATE		2.25	medium	getma.org/?cm=msa&ty=f&p=PREX1_HUMAN&rb=766&re=1657&var=R1604W	NA	getma.org/?cm=var&var=hg19,20,47244458,G,A&fts=all	R1604W	--	--	1																																		PREX1_uc002xtv.1_Missense_Mutation_p.R901W	1	1		probably_damaging(1)	p.R1604W	NM_020820	NP_065871		deleterious(0)	1	PREX1_HUMAN	PREX1	HGNC	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)				38	4833	-			UPI000013D375	1604					SNV	PREX1,missense_variant,p.Arg1604Trp,ENST00000371941,NM_020820.3;PREX1,3_prime_UTR_variant,,ENST00000396220,;PREX1,3_prime_UTR_variant,,ENST00000482556,;	uc002xtw.1	c.4810C>T	4833/6636	1	1			c.4810C>T						20	SNP	c.(4810-4812)CGG>TGG	55	55			lung(3)|ovary(2)|pancreas(1)	6	Broad	phosphatidylinositol-3,4,			47244458		0.692	ENSG00000124126	12268	g.chr20:47244458G>A	actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity							38.57615	KEEP	10	9	-1	32	35	10	9	-1	42.384402	32	35	0.246154	1	0	0	0	0	1	0	0	0	--	--		0	A			PREX1_uc002xtv.1_Missense_Mutation_p.R901W	25	GBM-06-0152-TP	p.R1604W	G	CCGTGGCTCCGTGCCAAGATG	NM_020820	NP_065871	47244458	Q8TCU6	PREX1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		38	4833	-	A	A			Missense_Mutation	1604						
PREX1	57580	broad.mit.edu	GRCh37	20	47266679	47266679	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0221-01	TCGA-06-0221-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371941.3:c.2883G>A	p.Pro961=	p.P961=	ENST00000371941	NM_020820.3	961	ccG/ccA	0	T:0		1			T	P	uc002xtw.1	protein_coding	YES	CCDS13410.1			2883/4980									lung(3)|ovary(2)|pancreas(1)	6	c.(2881-2883)CCG>CCA			hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF6	phosphatidylinositol-3,4,			T:0.0001	ENSP00000361009		24/40	5.77E-05		8.64E-05			4.50E-05		0.000121	rs368665525,COSM1412282,COSM1412283	24/40	.		ENST00000371941	Transcript			actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	ENSG00000124126	g.chr20:47266679C>T	32594			LOW								--	--	1																																		PREX1_uc002xtv.1_Silent_p.P258P	0,1,1	1			p.P961P	NM_020820	NP_065871			0,1,1	PREX1_HUMAN	PREX1	HGNC	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)				24	2906	-			UPI000013D375	961					SNV	PREX1,synonymous_variant,p.=,ENST00000396220,;PREX1,synonymous_variant,p.=,ENST00000371941,NM_020820.3;PREX1,synonymous_variant,p.=,ENST00000482556,;	uc002xtw.1	c.2883G>A	2906/6636	2	2			c.2883G>A						20	SNP	c.(2881-2883)CCG>CCA	47	47			lung(3)|ovary(2)|pancreas(1)	6	Broad	phosphatidylinositol-3,4,			47266679		0.592	ENSG00000124126	12268	g.chr20:47266679C>T	actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity							-18.754339	KEEP	2	11	-1	135	114	2	11	-1	25.567831	135	114	0.056075	1	0	0	0	0	0	0	1	0	--	--		0	T			PREX1_uc002xtv.1_Silent_p.P258P	53	GBM-06-0221-TP	p.P961P	C	GGCCACACAGCGGGTGGGGCT	NM_020820	NP_065871	47266679	Q8TCU6	PREX1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		24	2906	-	T	T			Silent	961						
PREX1	57580	broad.mit.edu	GRCh37	20	47309262	47309262	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0879-01	TCGA-06-0879-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371941.3:c.984G>A	p.Arg328=	p.R328=	ENST00000371941	NM_020820.3	328	agG/agA	0			1			T	R	uc002xtw.1	protein_coding	YES	CCDS13410.1			984/4980									lung(3)|ovary(2)|pancreas(1)	6	c.(982-984)AGG>AGA			PROSITE_profiles:PS50003,hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF6,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	phosphatidylinositol-3,4,				ENSP00000361009		Aug-40									COSM3405172,COSM3405173	Aug-40	.		ENST00000371941	Transcript			actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	ENSG00000124126	g.chr20:47309262C>T	32594			LOW								--	--	1																																			1,1	1			p.R328R	NM_020820	NP_065871			1,1	PREX1_HUMAN	PREX1	HGNC	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)				8	1007	-			UPI000013D375	328			PH.		SNV	PREX1,synonymous_variant,p.=,ENST00000396220,;PREX1,synonymous_variant,p.=,ENST00000371941,NM_020820.3;	uc002xtw.1	c.984G>A	1007/6636	2	2			c.984G>A						20	SNP	c.(982-984)AGG>AGA	26	26			lung(3)|ovary(2)|pancreas(1)	6	Broad	phosphatidylinositol-3,4,			47309262		0.458	ENSG00000124126	12268	g.chr20:47309262C>T	actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity							102.890318	KEEP	22	22	-1	109	93	22	22	-1	122.954406	109	93	0.191111	1	0	0	0	0	0	0	1	0	--	--		0	T				75	GBM-06-0879-TP	p.R328R	C	TGATTCGACCCCTGAAGATGT	NM_020820	NP_065871	47309262	Q8TCU6	PREX1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		8	1007	-	T	T			Silent	328			PH.			
PREX1	57580	broad.mit.edu	GRCh37	20	47249039	47249039	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371941.3:c.4406C>T	p.Thr1469Met	p.T1469M	ENST00000371941	NM_020820.3	1469	aCg/aTg	0		A:0.0008	1	A:0		A	T/M	uc002xtw.1	protein_coding	YES	CCDS13410.1			4406/4980									lung(3)|ovary(2)|pancreas(1)	6	c.(4405-4407)ACG>ATG			hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF6	phosphatidylinositol-3,4,		A:0		ENSP00000361009	A:0	34/40									rs558809203,COSM3389808,COSM3389809	34/40	.		ENST00000371941	Transcript		A:0.0002	actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	ENSG00000124126	g.chr20:47249039G>A	32594			MODERATE		2.135	medium	getma.org/?cm=msa&ty=f&p=PREX1_HUMAN&rb=766&re=1657&var=T1469M	NA	getma.org/?cm=var&var=hg19,20,47249039,G,A&fts=all	T1469M	--	--	1																																		PREX1_uc002xtv.1_Missense_Mutation_p.T766M	0,1,1	1		probably_damaging(0.932)	p.T1469M	NM_020820	NP_065871	A:0	deleterious(0.02)	0,1,1	PREX1_HUMAN	PREX1	HGNC	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)				34	4429	-			UPI000013D375	1469					SNV	PREX1,missense_variant,p.Thr1469Met,ENST00000396220,;PREX1,missense_variant,p.Thr1469Met,ENST00000371941,NM_020820.3;PREX1,missense_variant,p.Thr791Met,ENST00000482556,;	uc002xtw.1	c.4406C>T	4429/6636	2	2			c.4406C>T						20	SNP	c.(4405-4407)ACG>ATG	37	37			lung(3)|ovary(2)|pancreas(1)	6	Broad	phosphatidylinositol-3,4,			47249039		0.677	ENSG00000124126	12268	g.chr20:47249039G>A	actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity							-7.689598	KEEP	1	4	-1	45	47	1	4	-1	9.910554	45	47	0.05814	1	0	0	0	0	1	0	0	0	--	--		0	A			PREX1_uc002xtv.1_Missense_Mutation_p.T766M	102	GBM-06-5858-TP	p.T1469M	G	CTCACCTTTCGTGAACAGCGC	NM_020820	NP_065871	47249039	Q8TCU6	PREX1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		34	4429	-	A	A			Missense_Mutation	1469						
PREX1	0	broad.mit.edu	GRCh37	20	47267957	47267957	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1456-01	TCGA-14-1456-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371941.3:c.2632G>A	p.Gly878Ser	p.G878S	ENST00000371941	NM_020820.3	878	Ggc/Agc	0			1			T	G/S	uc002xtw.1	protein_coding	YES	CCDS13410.1			2632/4980									lung(3)|ovary(2)|pancreas(1)	6	c.(2632-2634)GGC>AGC			hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF6	phosphatidylinositol-3,4,				ENSP00000361009		22/40	1.65E-05	0.0001				1.54E-05			rs779765138,COSM2155615,COSM2155616	22/40	.		ENST00000371941	Transcript			actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	ENSG00000124126	g.chr20:47267957C>T	32594			MODERATE		2.135	medium	getma.org/?cm=msa&ty=f&p=PREX1_HUMAN&rb=766&re=1657&var=G878S	NA	getma.org/?cm=var&var=hg19,20,47267957,C,T&fts=all	G878S	--	--	1																																		PREX1_uc002xtv.1_Missense_Mutation_p.G175S	0,1,1	1		probably_damaging(0.986)	p.G878S	NM_020820	NP_065871		tolerated(0.11)	0,1,1	PREX1_HUMAN	PREX1	HGNC	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)				22	2655	-			UPI000013D375	878					SNV	PREX1,missense_variant,p.Gly878Ser,ENST00000396220,;PREX1,missense_variant,p.Gly878Ser,ENST00000371941,NM_020820.3;PREX1,missense_variant,p.Gly200Ser,ENST00000482556,;	uc002xtw.1	c.2632G>A	2655/6636	1	1			c.2632G>A						20	SNP	c.(2632-2634)GGC>AGC	14	14			lung(3)|ovary(2)|pancreas(1)	6	Broad	phosphatidylinositol-3,4,			47267957		0.607	ENSG00000124126	12268	g.chr20:47267957C>T	actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity							58.381252	KEEP	8	13	-1	23	16	8	13	-1	58.990118	23	16	0.384615	1	0	0	0	0	1	0	0	0	--	--		0	T			PREX1_uc002xtv.1_Missense_Mutation_p.G175S	146	GBM-14-1456-TP	p.G878S	C	CCGAAGCAGCCGCGGGGCTCC	NM_020820	NP_065871	47267957	Q8TCU6	PREX1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		22	2655	-	T	T			Missense_Mutation	878						
PREX1	0	broad.mit.edu	GRCh37	20	47276521	47276521	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01	TCGA-28-2513-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371941.3:c.1817G>A	p.Ser606Asn	p.S606N	ENST00000371941	NM_020820.3	606	aGc/aAc	0			1			T	S/N	uc002xtw.1	protein_coding	YES	CCDS13410.1			1817/4980									lung(3)|ovary(2)|pancreas(1)	6	c.(1816-1818)AGC>AAC			hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF6,Gene3D:1.10.10.10,Superfamily_domains:SSF46785	phosphatidylinositol-3,4,				ENSP00000361009		16/40									COSM3405170,COSM3405171	16/40	.		ENST00000371941	Transcript			actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	ENSG00000124126	g.chr20:47276521C>T	32594			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=PREX1_HUMAN&rb=596&re=765&var=S606N	NA	getma.org/?cm=var&var=hg19,20,47276521,C,T&fts=all	S606N	--	--	1																																			1,1	1		benign(0.002)	p.S606N	NM_020820	NP_065871		tolerated(0.15)	1,1	PREX1_HUMAN	PREX1	HGNC	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)				16	1840	-			UPI000013D375	606					SNV	PREX1,missense_variant,p.Ser606Asn,ENST00000396220,;PREX1,missense_variant,p.Ser606Asn,ENST00000371941,NM_020820.3;PREX1,upstream_gene_variant,,ENST00000482556,;	uc002xtw.1	c.1817G>A	1840/6636	2	2			c.1817G>A						20	SNP	c.(1816-1818)AGC>AAC	39	39			lung(3)|ovary(2)|pancreas(1)	6	Broad	phosphatidylinositol-3,4,			47276521		0.562	ENSG00000124126	12268	g.chr20:47276521C>T	actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity							23.831045	KEEP	11	11	-1	81	94	11	11	-1	51.350154	81	94	0.112903	1	0	0	0	0	1	0	0	0	--	--		0	T				213	GBM-28-2513-TP	p.S606N	C	TTTGTTCTTGCTGCTGGTCCC	NM_020820	NP_065871	47276521	Q8TCU6	PREX1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		16	1840	-	T	T			Missense_Mutation	606						
PREX1	0	broad.mit.edu	GRCh37	20	47262489	47262489	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6285-01	TCGA-76-6285-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371941.3:c.3412A>G	p.Arg1138Gly	p.R1138G	ENST00000371941	NM_020820.3	1138	Agg/Ggg	0			1			C	R/G	uc002xtw.1	protein_coding	YES	CCDS13410.1			3412/4980									lung(3)|ovary(2)|pancreas(1)	6	c.(3412-3414)AGG>GGG			hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF6	phosphatidylinositol-3,4,				ENSP00000361009		26/40									COSM3405168,COSM3405169	26/40	.		ENST00000371941	Transcript			actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	ENSG00000124126	g.chr20:47262489T>C	32594			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=PREX1_HUMAN&rb=766&re=1657&var=R1138G	NA	getma.org/?cm=var&var=hg19,20,47262489,T,C&fts=all	R1138G	--	--	1																																		PREX1_uc002xtv.1_Missense_Mutation_p.R435G	1,1	1		benign(0.423)	p.R1138G	NM_020820	NP_065871		deleterious(0)	1,1	PREX1_HUMAN	PREX1	HGNC	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)				26	3435	-			UPI000013D375	1138					SNV	PREX1,missense_variant,p.Arg1138Gly,ENST00000396220,;PREX1,missense_variant,p.Arg1138Gly,ENST00000371941,NM_020820.3;PREX1,upstream_gene_variant,,ENST00000496915,;PREX1,missense_variant,p.Arg460Gly,ENST00000482556,;	uc002xtw.1	c.3412A>G	3435/6636	3	3			c.3412A>G						20	SNP	c.(3412-3414)AGG>GGG	64	64			lung(3)|ovary(2)|pancreas(1)	6	Broad	phosphatidylinositol-3,4,			47262489		0.617	ENSG00000124126	12268	g.chr20:47262489T>C	actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity							123.042135	KEEP	18	21	-1	9	8	18	21	-1	125.060136	9	8	0.714286	1	0	0	0	0	1	0	0	0	--	--		0	C			PREX1_uc002xtv.1_Missense_Mutation_p.R435G	280	GBM-76-6285-TP	p.R1138G	T	TGGTCACTCCTGTCCATCTCG	NM_020820	NP_065871	47262489	Q8TCU6	PREX1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		26	3435	-	C	C			Missense_Mutation	1138						
PREX2	80243	broad.mit.edu	GRCh37	8	69030839	69030839	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-2567-01	TCGA-06-2567-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288368.4:c.3381C>A	p.Ser1127Arg	p.S1127R	ENST00000288368	NM_024870.2	1127	agC/agA	0			1			A	S/R	uc003xxv.1	protein_coding	YES	CCDS6201.1			3381/4821									skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17	c.(3379-3381)AGC>AGA			hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1,Low_complexity_(Seg):seg	DEP domain containing 2 isoform a				ENSP00000288368		27/40									COSM2153082	27/40	.		ENST00000288368	Transcript			G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	ENSG00000046889	g.chr8:69030839C>A	22950			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=PREX2_HUMAN&rb=946&re=1145&var=S1127R	NA	getma.org/?cm=var&var=hg19,8,69030839,C,A&fts=all	S1127R	--	--	1																																			1	1		probably_damaging(0.986)	p.S1127R	NM_024870	NP_079146		deleterious(0.03)	1	PREX2_HUMAN	PREX2	HGNC	Q70Z35	PREX2_HUMAN			Q56UR8_HUMAN		27	3408	+			UPI0000375435	1127					SNV	PREX2,missense_variant,p.Ser1127Arg,ENST00000288368,NM_024870.2,NM_025170.4;	uc003xxv.1	c.3381C>A	3658/10750	2	2			c.3381C>A						8	SNP	c.(3379-3381)AGC>AGA	32	32			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17	Broad	DEP domain containing 2 isoform a			69030839		0.463	ENSG00000046889	12269	g.chr8:69030839C>A	G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			1011			1011	167.655285	KEEP	37	37	0.5	43	45	37	37	0.5	167.672382	43	45	0.486486	1	0	0	0	0	1	0	0	0	--	--		0	A				89	GBM-06-2567-TP	p.S1127R	C	TCTGCAGCAGCCAGTGCAGCT	NM_024870	NP_079146	69030839	Q70Z35	PREX2_HUMAN	0			27	3408	+	A	A			Missense_Mutation	1127						
PREX2	0	broad.mit.edu	GRCh37	8	68989642	68989642	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1991-01	TCGA-32-1991-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288368.4:c.1580G>A	p.Arg527His	p.R527H	ENST00000288368	NM_024870.2	527	cGc/cAc	0			1			A	R/H	uc003xxv.1	protein_coding	YES	CCDS6201.1			1580/4821									skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17	c.(1579-1581)CGC>CAC			Gene3D:1.10.10.10,Pfam_domain:PF00610,PROSITE_profiles:PS50186,hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1,SMART_domains:SM00049,Superfamily_domains:SSF46785	DEP domain containing 2 isoform a				ENSP00000288368		15/40	1.65E-05			0.000231					rs767992923,COSM3413094,COSM3413095	15/40	.		ENST00000288368	Transcript			G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	ENSG00000046889	g.chr8:68989642G>A	22950			MODERATE		0.405	neutral	getma.org/?cm=msa&ty=f&p=PREX2_HUMAN&rb=495&re=563&var=R527H	getma.org/pdb.php?prot=PREX2_HUMAN&from=495&to=563&var=R527H	getma.org/?cm=var&var=hg19,8,68989642,G,A&fts=all	R527H	--	--	1																																		PREX2_uc003xxu.1_Missense_Mutation_p.R527H|PREX2_uc011lez.1_Missense_Mutation_p.R462H	0,1,1	1		possibly_damaging(0.883)	p.R527H	NM_024870	NP_079146		deleterious(0.02)	0,1,1	PREX2_HUMAN	PREX2	HGNC	Q70Z35	PREX2_HUMAN			Q56UR8_HUMAN		15	1607	+			UPI0000375435	527			DEP 2.		SNV	PREX2,missense_variant,p.Arg527His,ENST00000288368,NM_024870.2,NM_025170.4;RP11-403D15.2,downstream_gene_variant,,ENST00000526901,;PREX2,non_coding_transcript_exon_variant,,ENST00000529398,;PREX2,non_coding_transcript_exon_variant,,ENST00000517617,;	uc003xxv.1	c.1580G>A	1857/10750	2	2			c.1580G>A						8	SNP	c.(1579-1581)CGC>CAC	36	36			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17	Broad	DEP domain containing 2 isoform a			68989642		0.438	ENSG00000046889	12269	g.chr8:68989642G>A	G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			1011			1011	-50.716361	KEEP	1	4	-1	149	134	1	4	-1	9.203947	149	134	0.021368	1	0	0	0	0	1	0	0	0	--	--		0	A			PREX2_uc003xxu.1_Missense_Mutation_p.R527H|PREX2_uc011lez.1_Missense_Mutation_p.R462H	234	GBM-32-1991-TP	p.R527H	G	GGAGATTGCCGCACCAGAGAA	NM_024870	NP_079146	68989642	Q70Z35	PREX2_HUMAN	0			15	1607	+	A	A			Missense_Mutation	527			DEP 2.			
PRG2	0	broad.mit.edu	GRCh37	11	57156544	57156544	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-3915-01	TCGA-41-3915-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311862.5:c.305C>T	p.Pro102Leu	p.P102L	ENST00000311862	NM_002728.4	102	cCt/cTt	0			1			A	P/L	uc001njz.2	protein_coding	YES	CCDS7955.1			305/669									central_nervous_system(1)	1	c.(304-306)CCT>CTT			Prints_domain:PR00770,hmmpanther:PTHR10068,hmmpanther:PTHR10068:SF7,SMART_domains:SM00034	proteoglycan 2 preproprotein	Sargramostim(DB00020)			ENSP00000312134		6-Mar									COSM3397875	6-Mar	.		ENST00000311862	Transcript			defense response to bacterium|immune response	extracellular region|transport vesicle	heparin binding|sugar binding	ENSG00000186652	g.chr11:57156544G>A	9362			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=PRG2_HUMAN&rb=72&re=113&var=P102L	NA	getma.org/?cm=var&var=hg19,11,57156544,G,A&fts=all	P102L	--	--	1																																		PRG2_uc001njw.1_RNA|PRG2_uc001njx.1_RNA|PRG2_uc001njy.1_RNA|PRG2_uc001nka.2_Missense_Mutation_p.P102L|PRG2_uc001nkb.2_Missense_Mutation_p.P102L|PRG2_uc001nkd.2_Missense_Mutation_p.P102L|PRG2_uc001nkc.2_Missense_Mutation_p.P102L|PRG2_uc001nke.2_Missense_Mutation_p.P382L	1	1		probably_damaging(0.989)	p.P102L	NM_002728	NP_002719		deleterious(0.02)	1	PRG2_HUMAN	PRG2	HGNC	P13727	PRG2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)			2	332	-			UPI000013CF50	102					SNV	PRG2,missense_variant,p.Pro102Leu,ENST00000311862,NM_002728.4,NM_001243245.1;PRG2,missense_variant,p.Pro102Leu,ENST00000525955,;PRG2,missense_variant,p.Pro102Leu,ENST00000533605,;RP11-872D17.8,missense_variant,p.Pro207Leu,ENST00000529411,;RP11-872D17.8,non_coding_transcript_exon_variant,,ENST00000534081,;PRG2,non_coding_transcript_exon_variant,,ENST00000530105,;RP11-872D17.8,downstream_gene_variant,,ENST00000528835,;	uc001njz.2	c.305C>T	379/1424	1	1			c.305C>T						11	SNP	c.(304-306)CCT>CTT	61	61			central_nervous_system(1)	1	Broad	proteoglycan 2 preproprotein		Sargramostim(DB00020)	57156544		0.532	ENSG00000186652	12271	g.chr11:57156544G>A	defense response to bacterium|immune response	extracellular region|transport vesicle	heparin binding|sugar binding							-23.995132	KEEP	4	5	-1	73	100	4	5	-1	12.491423	73	100	0.037975	1	0	0	0	0	1	0	0	0	--	--		0	A			PRG2_uc001njw.1_RNA|PRG2_uc001njx.1_RNA|PRG2_uc001njy.1_RNA|PRG2_uc001nka.2_Missense_Mutation_p.P102L|PRG2_uc001nkb.2_Missense_Mutation_p.P102L|PRG2_uc001nkd.2_Missense_Mutation_p.P102L|PRG2_uc001nkc.2_Missense_Mutation_p.P102L|PRG2_uc001nke.2_Missense_Mutation_p.P382L	256	GBM-41-3915-TP	p.P102L	G	CTGGCACCCAGGGATGCCCAC	NM_002728	NP_002719	57156544	P13727	PRG2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	332	-	A	A			Missense_Mutation	102						
PRG2	0	broad.mit.edu	GRCh37	11	57156546	57156546	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-3915-01	TCGA-41-3915-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311862.5:c.303C>T	p.Ile101=	p.I101=	ENST00000311862	NM_002728.4	101	atC/atT	0			1			A	I	uc001njz.2	protein_coding	YES	CCDS7955.1			303/669									central_nervous_system(1)	1	c.(301-303)ATC>ATT			Prints_domain:PR00770,hmmpanther:PTHR10068,hmmpanther:PTHR10068:SF7,SMART_domains:SM00034	proteoglycan 2 preproprotein	Sargramostim(DB00020)			ENSP00000312134		6-Mar									COSM3397876	6-Mar	.		ENST00000311862	Transcript			defense response to bacterium|immune response	extracellular region|transport vesicle	heparin binding|sugar binding	ENSG00000186652	g.chr11:57156546G>A	9362			LOW								--	--	1																																		PRG2_uc001njw.1_RNA|PRG2_uc001njx.1_RNA|PRG2_uc001njy.1_RNA|PRG2_uc001nka.2_Silent_p.I101I|PRG2_uc001nkb.2_Silent_p.I101I|PRG2_uc001nkd.2_Silent_p.I101I|PRG2_uc001nkc.2_Silent_p.I101I|PRG2_uc001nke.2_Silent_p.I381I	1	1			p.I101I	NM_002728	NP_002719			1	PRG2_HUMAN	PRG2	HGNC	P13727	PRG2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)			2	330	-			UPI000013CF50	101					SNV	PRG2,synonymous_variant,p.=,ENST00000311862,NM_002728.4,NM_001243245.1;PRG2,synonymous_variant,p.=,ENST00000525955,;PRG2,synonymous_variant,p.=,ENST00000533605,;RP11-872D17.8,synonymous_variant,p.=,ENST00000529411,;RP11-872D17.8,non_coding_transcript_exon_variant,,ENST00000534081,;PRG2,non_coding_transcript_exon_variant,,ENST00000530105,;RP11-872D17.8,downstream_gene_variant,,ENST00000528835,;	uc001njz.2	c.303C>T	377/1424	2	2			c.303C>T						11	SNP	c.(301-303)ATC>ATT	19	19			central_nervous_system(1)	1	Broad	proteoglycan 2 preproprotein		Sargramostim(DB00020)	57156546		0.537	ENSG00000186652	12271	g.chr11:57156546G>A	defense response to bacterium|immune response	extracellular region|transport vesicle	heparin binding|sugar binding							-22.91725	KEEP	4	6	-1	71	104	4	6	-1	12.490302	71	104	0.044025	1	0	0	0	0	0	0	1	0	--	--		0	A			PRG2_uc001njw.1_RNA|PRG2_uc001njx.1_RNA|PRG2_uc001njy.1_RNA|PRG2_uc001nka.2_Silent_p.I101I|PRG2_uc001nkb.2_Silent_p.I101I|PRG2_uc001nkd.2_Silent_p.I101I|PRG2_uc001nkc.2_Silent_p.I101I|PRG2_uc001nke.2_Silent_p.I381I	256	GBM-41-3915-TP	p.I101I	G	GGCACCCAGGGATGCCCACCA	NM_002728	NP_002719	57156546	P13727	PRG2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	330	-	A	A			Silent	101						
PRG2	5553		GRCh37	11	57155245	57155245	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000311862.5:c.592G>A	p.Val198Met	p.V198M	ENST00000311862	NM_002728.4	198	Gtg/Atg	0																																																																																																																																																																																																																																												
PRG4	0	broad.mit.edu	GRCh37	1	186277611	186277614	+	frameshift_variant	Frame_Shift_Del	DEL	AGAA	AGAA	-			TCGA-15-1444-01	TCGA-15-1444-01	AGAA	AGAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000445192.2:c.2763_2766delAAGA	p.Arg922ThrfsTer15	p.R922Tfs*15	ENST00000445192	NM_005807.3	920	acAGAA/ac	0			1			-	TE/X	uc001gru.3	protein_coding	YES	CCDS1369.1			2760-2763/4215									skin(1)	1	c.(2758-2763)ACAGAAfs			hmmpanther:PTHR22917,hmmpanther:PTHR22917:SF1	proteoglycan 4 isoform A				ENSP00000399679		13-Jul										13-Jul	.		ENST00000445192	Transcript	1		cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	ENSG00000116690	g.chr1:186277611_186277614delAGAA	9364	3		HIGH								--	--	1																																		PRG4_uc001grt.3_Frame_Shift_Del_p.T879fs|PRG4_uc009wyl.2_Frame_Shift_Del_p.T827fs|PRG4_uc009wym.2_Frame_Shift_Del_p.T786fs|PRG4_uc010poo.1_RNA		1			p.T920fs	NM_005807	NP_005798				PRG4_HUMAN	PRG4	HGNC	Q92954	PRG4_HUMAN			B3KQ20_HUMAN		7	2811_2814	+			UPI0000070EF9	920_921					deletion	PRG4,frameshift_variant,p.Arg922ThrfsTer15,ENST00000445192,NM_005807.3;PRG4,frameshift_variant,p.Arg881ThrfsTer15,ENST00000367483,NM_001127708.1;PRG4,frameshift_variant,p.Arg879ThrfsTer15,ENST00000367486,;PRG4,frameshift_variant,p.Arg829ThrfsTer15,ENST00000367485,NM_001127710.1,NM_001127709.1;PRG4,frameshift_variant,p.Arg451ThrfsTer15,ENST00000367484,;PRG4,frameshift_variant,p.Arg788ThrfsTer15,ENST00000367482,;TPR,downstream_gene_variant,,ENST00000367478,NM_003292.2;PRG4,downstream_gene_variant,,ENST00000533951,;RNU6-1240P,downstream_gene_variant,,ENST00000365155,;	uc001gru.3	c.2760_2763delAGAA	2805-2808/5044	5	5			c.2760_2763delAGAA						1	DEL	c.(2758-2763)ACAGAAfs	28	28			skin(1)	1	Broad	proteoglycan 4 isoform A			186277614		0.412	ENSG00000116690	12273	g.chr1:186277611_186277614delAGAA	cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity																				0.27	1	1	0	1	0	0	0	0	0	--	--		0	-			PRG4_uc001grt.3_Frame_Shift_Del_p.T879fs|PRG4_uc009wyl.2_Frame_Shift_Del_p.T827fs|PRG4_uc009wym.2_Frame_Shift_Del_p.T786fs|PRG4_uc010poo.1_RNA	154	GBM-15-1444-TP	p.T920fs	AGAA	ACAAGACAACAGAAAGAGACTTAC	NM_005807	NP_005798	186277611	Q92954	PRG4_HUMAN	0			7	2811_2814	+	-	-			Frame_Shift_Del	920_921						
PRG4	0	broad.mit.edu	GRCh37	1	186280588	186280588	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000445192.2:c.3653G>A	p.Arg1218His	p.R1218H	ENST00000445192	NM_005807.3	1218	cGt/cAt	0		A:0	1	A:0		A	R/H	uc001gru.3	protein_coding	YES	CCDS1369.1			3653/4215									skin(1)	1	c.(3652-3654)CGT>CAT			Gene3D:2.110.10.10,Pfam_domain:PF00045,PROSITE_profiles:PS51642,hmmpanther:PTHR22917,hmmpanther:PTHR22917:SF1,SMART_domains:SM00120,Superfamily_domains:SSF50923	proteoglycan 4 isoform A		A:0.001		ENSP00000399679	A:0	13-Oct	3.29E-05					6.01E-05			rs201785504,COSM3400112	13-Oct	.		ENST00000445192	Transcript	1	A:0.0002	cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	ENSG00000116690	g.chr1:186280588G>A	9364			MODERATE		3.945	high	getma.org/?cm=msa&ty=f&p=PRG4_HUMAN&rb=1195&re=1240&var=R1218H	getma.org/pdb.php?prot=PRG4_HUMAN&from=1195&to=1240&var=R1218H	getma.org/?cm=var&var=hg19,1,186280588,G,A&fts=all	R1218H	--	--	1																																		PRG4_uc001grt.3_Missense_Mutation_p.R1177H|PRG4_uc009wyl.2_Missense_Mutation_p.R1125H|PRG4_uc009wym.2_Missense_Mutation_p.R1084H|PRG4_uc010poo.1_RNA	0,1	1		unknown(0)	p.R1218H	NM_005807	NP_005798	A:0		0,1	PRG4_HUMAN	PRG4	HGNC	Q92954	PRG4_HUMAN			B3KQ20_HUMAN		10	3704	+			UPI0000070EF9	1218			Hemopexin-like 2.		SNV	PRG4,missense_variant,p.Arg1218His,ENST00000445192,NM_005807.3;PRG4,missense_variant,p.Arg1177His,ENST00000367483,NM_001127708.1;PRG4,missense_variant,p.Arg1175His,ENST00000367486,;PRG4,missense_variant,p.Arg1125His,ENST00000367485,NM_001127710.1,NM_001127709.1;PRG4,missense_variant,p.Arg747His,ENST00000367484,;TPR,downstream_gene_variant,,ENST00000367478,NM_003292.2;PRG4,downstream_gene_variant,,ENST00000367482,;PRG4,downstream_gene_variant,,ENST00000533951,;RNU6-1240P,downstream_gene_variant,,ENST00000365155,;	uc001gru.3	c.3653G>A	3698/5044	1	1			c.3653G>A						1	SNP	c.(3652-3654)CGT>CAT	51	51			skin(1)	1	Broad	proteoglycan 4 isoform A			186280588		0.353	ENSG00000116690	12273	g.chr1:186280588G>A	cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity							195.4462	KEEP	34	40	-1	40	66	34	40	-1	196.392283	40	66	0.416667	1	0	0	0	0	1	0	0	0	--	--		0	A			PRG4_uc001grt.3_Missense_Mutation_p.R1177H|PRG4_uc009wyl.2_Missense_Mutation_p.R1125H|PRG4_uc009wym.2_Missense_Mutation_p.R1084H|PRG4_uc010poo.1_RNA	177	GBM-19-5959-TP	p.R1218H	G	CAGTACTGGCGTTTTACCAAT	NM_005807	NP_005798	186280588	Q92954	PRG4_HUMAN	0			10	3704	+	A	A			Missense_Mutation	1218			Hemopexin-like 2.			
PRG4	0	broad.mit.edu	GRCh37	1	186276526	186276526	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01	TCGA-27-1830-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000445192.2:c.1675G>A	p.Glu559Lys	p.E559K	ENST00000445192	NM_005807.3	559	Gag/Aag	0			1			A	E/K	uc001gru.3	protein_coding	YES	CCDS1369.1			1675/4215									skin(1)	1	c.(1675-1677)GAG>AAG			hmmpanther:PTHR22917,hmmpanther:PTHR22917:SF1,Low_complexity_(Seg):seg	proteoglycan 4 isoform A				ENSP00000399679		13-Jul	8.25E-06							6.07E-05	rs755032740,COSM3747817	13-Jul	.		ENST00000445192	Transcript	1		cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	ENSG00000116690	g.chr1:186276526G>A	9364			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=PRG4_HUMAN&rb=261&re=869&var=E559K	NA	getma.org/?cm=var&var=hg19,1,186276526,G,A&fts=all	E559K	--	--	1																																		PRG4_uc001grt.3_Missense_Mutation_p.E518K|PRG4_uc009wyl.2_Missense_Mutation_p.E466K|PRG4_uc009wym.2_Missense_Mutation_p.E425K|PRG4_uc010poo.1_Intron	0,1	1		unknown(0)	p.E559K	NM_005807	NP_005798			0,1	PRG4_HUMAN	PRG4	HGNC	Q92954	PRG4_HUMAN			B3KQ20_HUMAN		7	1726	+			UPI0000070EF9	559			28.|59 X 8 AA repeats of K-X-P-X-P-T-T-X.		SNV	PRG4,missense_variant,p.Glu559Lys,ENST00000445192,NM_005807.3;PRG4,missense_variant,p.Glu518Lys,ENST00000367483,NM_001127708.1;PRG4,missense_variant,p.Glu516Lys,ENST00000367486,;PRG4,missense_variant,p.Glu466Lys,ENST00000367485,NM_001127710.1,NM_001127709.1;PRG4,missense_variant,p.Glu425Lys,ENST00000367482,;PRG4,intron_variant,,ENST00000367484,;TPR,downstream_gene_variant,,ENST00000367478,NM_003292.2;PRG4,downstream_gene_variant,,ENST00000533951,;RNU6-1240P,downstream_gene_variant,,ENST00000365155,;	uc001gru.3	c.1675G>A	1720/5044	2	2			c.1675G>A						1	SNP	c.(1675-1677)GAG>AAG	20	20			skin(1)	1	Broad	proteoglycan 4 isoform A			186276526		0.637	ENSG00000116690	12273	g.chr1:186276526G>A	cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity							-10.156319	KEEP	0	5	-1	50	83	0	5	-1	6.516244	50	83	0.060241	1	0	0	0	0	1	0	0	0	--	--		0	A			PRG4_uc001grt.3_Missense_Mutation_p.E518K|PRG4_uc009wyl.2_Missense_Mutation_p.E466K|PRG4_uc009wym.2_Missense_Mutation_p.E425K|PRG4_uc010poo.1_Intron	189	GBM-27-1830-TP	p.E559K	G	CACCACCAAGGAGCCTGCACC	NM_005807	NP_005798	186276526	Q92954	PRG4_HUMAN	0			7	1726	+	A	A			Missense_Mutation	559			28.|59 X 8 AA repeats of K-X-P-X-P-T-T-X.			
PRG4	0	broad.mit.edu	GRCh37	1	186276567	186276567	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-5216-01	TCGA-28-5216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000445192.2:c.1716C>T	p.Thr572=	p.T572=	ENST00000445192	NM_005807.3	572	acC/acT	0			1			T	T	uc001gru.3	protein_coding	YES	CCDS1369.1			1716/4215									skin(1)	1	c.(1714-1716)ACC>ACT			hmmpanther:PTHR22917,hmmpanther:PTHR22917:SF1,Low_complexity_(Seg):seg	proteoglycan 4 isoform A				ENSP00000399679		13-Jul									COSM3400111	13-Jul	.		ENST00000445192	Transcript	1		cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	ENSG00000116690	g.chr1:186276567C>T	9364			LOW								--	--	1																																		PRG4_uc001grt.3_Silent_p.T531T|PRG4_uc009wyl.2_Silent_p.T479T|PRG4_uc009wym.2_Silent_p.T438T|PRG4_uc010poo.1_Intron	1	1			p.T572T	NM_005807	NP_005798			1	PRG4_HUMAN	PRG4	HGNC	Q92954	PRG4_HUMAN			B3KQ20_HUMAN		7	1767	+			UPI0000070EF9	572			59 X 8 AA repeats of K-X-P-X-P-T-T-X.|29.		SNV	PRG4,synonymous_variant,p.=,ENST00000445192,NM_005807.3;PRG4,synonymous_variant,p.=,ENST00000367483,NM_001127708.1;PRG4,synonymous_variant,p.=,ENST00000367486,;PRG4,synonymous_variant,p.=,ENST00000367485,NM_001127710.1,NM_001127709.1;PRG4,synonymous_variant,p.=,ENST00000367482,;PRG4,intron_variant,,ENST00000367484,;TPR,downstream_gene_variant,,ENST00000367478,NM_003292.2;PRG4,downstream_gene_variant,,ENST00000533951,;RNU6-1240P,downstream_gene_variant,,ENST00000365155,;	uc001gru.3	c.1716C>T	1761/5044	1	1			c.1716C>T						1	SNP	c.(1714-1716)ACC>ACT	8	8			skin(1)	1	Broad	proteoglycan 4 isoform A			186276567		0.642	ENSG00000116690	12273	g.chr1:186276567C>T	cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity							-19.777074	KEEP	0	5	-1	74	119	0	5	-1	6.716317	74	119	0.035398	1	0	0	0	0	0	0	1	0	--	--		0	T			PRG4_uc001grt.3_Silent_p.T531T|PRG4_uc009wyl.2_Silent_p.T479T|PRG4_uc009wym.2_Silent_p.T438T|PRG4_uc010poo.1_Intron	223	GBM-28-5216-TP	p.T572T	C	CACCCACCACCCCCAAGAAGC	NM_005807	NP_005798	186276567	Q92954	PRG4_HUMAN	0			7	1767	+	T	T			Silent	572			59 X 8 AA repeats of K-X-P-X-P-T-T-X.|29.			
PRICKLE4	29964	broad.mit.edu	GRCh37	6	41753983	41753983	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-2563-01	TCGA-06-2563-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000458694.1:c.700A>G	p.Ser234Gly	p.S234G	ENST00000458694	NM_013397.5	234	Agc/Ggc	0			1			G	S/G	uc011duf.1	protein_coding					700/1059										0	c.(700-702)AGC>GGC			Gene3D:2.10.110.10,Pfam_domain:PF00412,PROSITE_profiles:PS50023,hmmpanther:PTHR24214,hmmpanther:PTHR24214:SF34,SMART_domains:SM00132	over-expressed breast tumor protein				ENSP00000352128		7-Jun									COSM2152903,COSM2152902,COSM3411101	7-Jun	.		ENST00000359201	Transcript				nucleus	zinc ion binding	ENSG00000124593	g.chr6:41753983A>G	16805			MODERATE		0.07	neutral	getma.org/?cm=msa&ty=f&p=PRIC4_HUMAN&rb=149&re=205&var=S194G	getma.org/pdb.php?prot=PRIC4_HUMAN&from=149&to=205&var=S194G	getma.org/?cm=var&var=hg19,6,41753983,A,G&fts=all	S194G	--	--	1																																		PRICKLE4_uc003ord.2_RNA|TOMM6_uc003org.2_5'Flank|TOMM6_uc011dug.1_5'Flank	1,1,1			benign(0.014)	p.S234G	NM_013397	NP_037529		tolerated(0.61)	1,1,1		PRICKLE4	HGNC	Q2TBC4	PRIC4_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		G8JLD6_HUMAN		7	948	+	Ovarian(28;0.0355)|Colorectal(47;0.121)		UPI00015E05F2	194			LIM zinc-binding 2.		SNV	PRICKLE4,missense_variant,p.Ser234Gly,ENST00000359201,;PRICKLE4,missense_variant,p.Ser234Gly,ENST00000458694,NM_013397.5;PRICKLE4,missense_variant,p.Ser234Gly,ENST00000394263,;PRICKLE4,missense_variant,p.Ser194Gly,ENST00000394260,;PRICKLE4,missense_variant,p.Ser194Gly,ENST00000394259,;FRS3,intron_variant,,ENST00000422888,;USP49,downstream_gene_variant,,ENST00000394253,NM_001286554.1;TOMM6,upstream_gene_variant,,ENST00000398884,NM_001134493.1;TOMM6,upstream_gene_variant,,ENST00000398881,;PRICKLE4,downstream_gene_variant,,ENST00000463606,;PRICKLE4,missense_variant,p.Ser234Gly,ENST00000335515,;PRICKLE4,3_prime_UTR_variant,,ENST00000456057,;PRICKLE4,non_coding_transcript_exon_variant,,ENST00000487182,;PRICKLE4,non_coding_transcript_exon_variant,,ENST00000483200,;	uc011duf.1	c.700A>G	1289/1648	3	3			c.700A>G						6	SNP	c.(700-702)AGC>GGC	51	51				0	Broad	over-expressed breast tumor protein			41753983		0.672	ENSG00000124593	12281	g.chr6:41753983A>G		nucleus	zinc ion binding							67.194674	KEEP	12	15	-1	14	18	12	15	-1	67.421493	14	18	0.425532	1	0	0	0	0	1	0	0	0	--	--		0	G			PRICKLE4_uc003ord.2_RNA|TOMM6_uc003org.2_5'Flank|TOMM6_uc011dug.1_5'Flank	86	GBM-06-2563-TP	p.S234G	A	GCCTGGGGGAAGCCCCTGCTG	NM_013397	NP_037529	41753983	Q2TBC4	PRIC4_HUMAN	0	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	948	+	G	G	Ovarian(28;0.0355)|Colorectal(47;0.121)		Missense_Mutation	194			LIM zinc-binding 2.			
PRIM1	0	broad.mit.edu	GRCh37	12	57140741	57140741	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-2514-01	TCGA-28-2514-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338193.6:c.337A>G	p.Thr113Ala	p.T113A	ENST00000338193	NM_000946.2	113	Aca/Gca	0			1			C	T/A	uc001smd.2	protein_coding	YES	CCDS44926.1			337/1263										0	c.(337-339)ACA>GCA			Superfamily_domains:SSF56747,Pfam_domain:PF01896,TIGRFAM_domain:TIGR00335,Gene3D:1v33A01,hmmpanther:PTHR10536	DNA primase polypeptide 1				ENSP00000350491		13-Mar									COSM3398910	13-Mar	.		ENST00000338193	Transcript			DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding	ENSG00000198056	g.chr12:57140741T>C	9369			MODERATE		3.205	medium	getma.org/?cm=msa&ty=f&p=PRI1_HUMAN&rb=108&re=336&var=T113A	getma.org/pdb.php?prot=PRI1_HUMAN&from=108&to=336&var=T113A	getma.org/?cm=var&var=hg19,12,57140741,T,C&fts=all	T113A	--	--	1																																		PRIM1_uc001sme.1_RNA|PRIM1_uc009zoz.1_Intron|PRIM1_uc001smf.2_Missense_Mutation_p.T113A	1	1		probably_damaging(0.933)	p.T113A	NM_000946	NP_000937		deleterious(0.01)	1	PRI1_HUMAN	PRIM1	HGNC	P49642	PRI1_HUMAN					3	401	-			UPI00001321AF	113					SNV	PRIM1,missense_variant,p.Thr113Ala,ENST00000338193,NM_000946.2;PRIM1,missense_variant,p.Thr116Ala,ENST00000550770,;PRIM1,upstream_gene_variant,,ENST00000549549,;PRIM1,non_coding_transcript_exon_variant,,ENST00000552408,;PRIM1,intron_variant,,ENST00000546761,;PRIM1,missense_variant,p.Thr113Ala,ENST00000552590,;PRIM1,non_coding_transcript_exon_variant,,ENST00000550224,;PRIM1,non_coding_transcript_exon_variant,,ENST00000548173,;	uc001smd.2	c.337A>G	374/1393	3	3			c.337A>G						12	SNP	c.(337-339)ACA>GCA	1	1				0	Broad	DNA primase polypeptide 1			57140741		0.428	ENSG00000198056	12282	g.chr12:57140741T>C	DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding							90.336397	KEEP	13	18	-1	14	34	13	18	-1	91.160941	14	34	0.382353	1	0	0	0	0	1	0	0	0	--	--		0	C			PRIM1_uc001sme.1_RNA|PRIM1_uc009zoz.1_Intron|PRIM1_uc001smf.2_Missense_Mutation_p.T113A	214	GBM-28-2514-TP	p.T113A	T	TCATAGTCTGTCATGTCAATG	NM_000946	NP_000937	57140741	P49642	PRI1_HUMAN	0			3	401	-	C	C			Missense_Mutation	113						
PRIM2	0	broad.mit.edu	GRCh37	6	57498985	57498985	+	3_prime_UTR_variant	3'UTR	SNP	G	G	C			TCGA-41-2572-01	TCGA-41-2572-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000607273.1:c.*208G>C		*70*	ENST00000607273	NM_000947.3			0			1			C		uc003pdx.2	protein_coding	YES				-/1041										0	c.(1249-1251)GGG>CGG				DNA primase polypeptide 2				ENSP00000475738		13/14									COSM3411229	13/14	.		ENST00000607273	Transcript			DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	ENSG00000146143	g.chr6:57498985G>C	9370			MODIFIER		1.225	low	getma.org/?cm=msa&ty=f&p=PRI2_HUMAN&rb=182&re=448&var=G417R	getma.org/pdb.php?prot=PRI2_HUMAN&from=182&to=448&var=G417R	getma.org/?cm=var&var=hg19,6,57498985,G,C&fts=all	G417R	--	--	1																																			1	1			p.G417R	NM_000947	NP_000938			1		PRIM2	HGNC	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	U3KQB9_HUMAN,I0CMK6_HUMAN,I0CMJ8_HUMAN,H9XFA6_HUMAN		14	1336	+			UPI00004588DE	417					SNV	PRIM2,3_prime_UTR_variant,,ENST00000607273,NM_000947.3;PRIM2,non_coding_transcript_exon_variant,,ENST00000389488,;	uc003pdx.2	c.1249G>C	1336/2290	3	3			c.1249G>C						6	SNP	c.(1249-1251)GGG>CGG	61	61				0	Broad	DNA primase polypeptide 2			57498985		0.299	ENSG00000146143	12283	g.chr6:57498985G>C	DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding							4.885291	KEEP	2	2	-1	6	11	2	2	-1	6.397159	6	11	0.1875	1	0	0	0	0	1	0	0	0	--	--		0	C				251	GBM-41-2572-TP	p.G417R	G	TTTAGTAAAGGGGACACATTA	NM_000947	NP_000938	57498985	P49643	PRI2_HUMAN	0		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	14	1336	+	C	C			Missense_Mutation	417						
PRKAG3	0	broad.mit.edu	GRCh37	2	219689035	219689035	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	C	C	T			TCGA-16-0846-01	TCGA-16-0846-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000233944.3:c.1263G>A	p.Leu421=	p.L421=	ENST00000233944		421	ctG/ctA	0			1			T	L	uc002vjb.1	nonsense_mediated_decay		CCDS2424.1			1263/1470									ovary(1)|lung(1)	2	c.(1261-1263)CTG>CTA			Gene3D:3.10.580.10,hmmpanther:PTHR13780,hmmpanther:PTHR13780:SF31,Superfamily_domains:SSF54631	AMP-activated protein kinase, non-catalytic				ENSP00000233944		14-Dec									COSM3407578	14-Dec	.		ENST00000233944	Transcript	1		cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	ENSG00000115592	g.chr2:219689035C>T	9387			LOW								--	--	1																																			1				p.L421L	NM_017431	NP_059127			1	AAKG3_HUMAN	PRKAG3	HGNC	Q9UGI9	AAKG3_HUMAN		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	B4DT70_HUMAN		12	1282	-		Renal(207;0.0474)	UPI0000043D98	421					SNV	PRKAG3,synonymous_variant,p.=,ENST00000439262,NM_017431.2;PRKAG3,synonymous_variant,p.=,ENST00000529249,;PRKAG3,synonymous_variant,p.=,ENST00000545803,;PRKAG3,downstream_gene_variant,,ENST00000392098,;PRKAG3,synonymous_variant,p.=,ENST00000233944,;PRKAG3,downstream_gene_variant,,ENST00000490971,;PRKAG3,downstream_gene_variant,,ENST00000470307,;	uc002vjb.1	c.1263G>A	1309/2326	2	2			c.1263G>A						2	SNP	c.(1261-1263)CTG>CTA	21	21			ovary(1)|lung(1)	2	Broad	AMP-activated protein kinase, non-catalytic			219689035		0.597	ENSG00000115592	12294	g.chr2:219689035C>T	cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding							102.206885	KEEP	27	13	-1	22	20	27	13	-1	102.206885	22	20	0.5	1	0	0	0	0	0	0	1	0	--	--		0	T				155	GBM-16-0846-TP	p.L421L	C	TCCTCTGCCTCAGGGCTTCTC	NM_017431	NP_059127	219689035	Q9UGI9	AAKG3_HUMAN	0		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	12	1282	-	T	T		Renal(207;0.0474)	Silent	421						
PRKAG3	0	broad.mit.edu	GRCh37	2	219691740	219691740	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01	TCGA-76-4934-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000233944.3:c.1079C>T	p.Ala360Val	p.A360V	ENST00000233944		360	gCt/gTt	0			1			A	A/V	uc002vjb.1	nonsense_mediated_decay		CCDS2424.1			1079/1470									ovary(1)|lung(1)	2	c.(1078-1080)GCT>GTT			Gene3D:3.10.580.10,Pfam_domain:PF00571,PROSITE_profiles:PS51371,hmmpanther:PTHR13780,hmmpanther:PTHR13780:SF31,SMART_domains:SM00116,Superfamily_domains:SSF54631	AMP-activated protein kinase, non-catalytic				ENSP00000233944		14-Oct									COSM3407579	14-Oct	.		ENST00000233944	Transcript	1		cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	ENSG00000115592	g.chr2:219691740G>A	9387			MODERATE		0.285	neutral	getma.org/?cm=msa&ty=f&p=AAKG3_HUMAN&rb=351&re=406&var=A360V	getma.org/pdb.php?prot=AAKG3_HUMAN&from=351&to=406&var=A360V	getma.org/?cm=var&var=hg19,2,219691740,G,A&fts=all	A360V	--	--	1																																		PRKAG3_uc010zkn.1_RNA|PRKAG3_uc010fvy.1_Silent_p.L402L	1			probably_damaging(1)	p.A360V	NM_017431	NP_059127		tolerated(0.13)	1	AAKG3_HUMAN	PRKAG3	HGNC	Q9UGI9	AAKG3_HUMAN		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	B4DT70_HUMAN		10	1098	-		Renal(207;0.0474)	UPI0000043D98	360			CBS 3.		SNV	PRKAG3,missense_variant,p.Ala335Val,ENST00000439262,NM_017431.2;PRKAG3,missense_variant,p.Ala360Val,ENST00000529249,;PRKAG3,missense_variant,p.Ala176Val,ENST00000545803,;PRKAG3,synonymous_variant,p.=,ENST00000392098,;PRKAG3,downstream_gene_variant,,ENST00000430489,;PRKAG3,missense_variant,p.Ala360Val,ENST00000233944,;PRKAG3,synonymous_variant,p.=,ENST00000470307,;PRKAG3,non_coding_transcript_exon_variant,,ENST00000490971,;	uc002vjb.1	c.1079C>T	1125/2326	2	2			c.1079C>T						2	SNP	c.(1078-1080)GCT>GTT	41	41			ovary(1)|lung(1)	2	Broad	AMP-activated protein kinase, non-catalytic			219691740		0.602	ENSG00000115592	12294	g.chr2:219691740G>A	cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding							191.839746	KEEP	39	43	-1	114	103	39	43	-1	201.02822	114	103	0.292887	1	0	0	0	0	1	0	0	0	--	--		0	A			PRKAG3_uc010zkn.1_RNA|PRKAG3_uc010fvy.1_Silent_p.L402L	272	GBM-76-4934-TP	p.A360V	G	CAGCACCACAGCCAAGTCTCG	NM_017431	NP_059127	219691740	Q9UGI9	AAKG3_HUMAN	0		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1098	-	A	A		Renal(207;0.0474)	Missense_Mutation	360			CBS 3.			
PRKAR1B	0	broad.mit.edu	GRCh37	7	618975	618975	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01	TCGA-12-0692-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360274.4:c.809C>T	p.Ala270Val	p.A270V	ENST00000360274	NM_002735.2	270	gCg/gTg	0			1			A	A/V	uc003siu.1	protein_coding		CCDS34579.1			809/1146										0	c.(808-810)GCG>GTG			Gene3D:2.60.120.10,PIRSF_domain:PIRSF000548,PROSITE_profiles:PS50042,hmmpanther:PTHR11635,hmmpanther:PTHR11635:SF126,SMART_domains:SM00100,Superfamily_domains:SSF51206	protein kinase, cAMP-dependent, regulatory, type				ENSP00000353415		11-Sep									COSM3412223	11-Sep	.		ENST00000360274	Transcript	1		activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	ENSG00000188191	g.chr7:618975G>A	9390			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=KAP1_HUMAN&rb=240&re=272&var=A270V	getma.org/pdb.php?prot=KAP1_HUMAN&from=240&to=272&var=A270V	getma.org/?cm=var&var=hg19,7,618975,G,A&fts=all	A270V	--	--	1																																		PRKAR1B_uc003siv.2_Missense_Mutation_p.A270V|PRKAR1B_uc003siw.1_Missense_Mutation_p.A270V|PRKAR1B_uc003six.1_RNA	1			possibly_damaging(0.454)	p.A270V	NM_002735	NP_002726		deleterious(0.03)	1	KAP1_HUMAN	PRKAR1B	HGNC	P31321	KAP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)	C9JSK5_HUMAN,C9J4C2_HUMAN,C9IZL8_HUMAN		10	915	-		Ovarian(82;0.0779)	UPI000021C478	270	A -> R (in Ref. 1; AAC37564).		cAMP 2.		SNV	PRKAR1B,missense_variant,p.Ala270Val,ENST00000406797,NM_001164761.1;PRKAR1B,missense_variant,p.Ala270Val,ENST00000537384,NM_001164760.1;PRKAR1B,missense_variant,p.Ala270Val,ENST00000544935,NM_001164759.1,NM_001164762.1;PRKAR1B,missense_variant,p.Ala270Val,ENST00000360274,NM_002735.2;PRKAR1B,missense_variant,p.Ala270Val,ENST00000403562,NM_001164758.1;PRKAR1B,missense_variant,p.Ala270Val,ENST00000430040,;PRKAR1B,missense_variant,p.Ala131Val,ENST00000400758,;	uc003siu.1	c.809C>T	990/2007	2	2			c.809C>T						7	SNP	c.(808-810)GCG>GTG	34	34				0	Broad	protein kinase, cAMP-dependent, regulatory, type			618975		0.612	ENSG00000188191	12296	g.chr7:618975G>A	activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			35			35	-9.280762	KEEP	3	9	-1	103	90	3	9	-1	21.368725	103	90	0.073171	1	0	0	0	0	1	0	0	0	--	--		0	A			PRKAR1B_uc003siv.2_Missense_Mutation_p.A270V|PRKAR1B_uc003siw.1_Missense_Mutation_p.A270V|PRKAR1B_uc003six.1_RNA	122	GBM-12-0692-TP	p.A270V	G	GGGCTCCAGCGCATCCGCCAC	NM_002735	NP_002726	618975	P31321	KAP1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)	10	915	-	A	A		Ovarian(82;0.0779)	Missense_Mutation	270	A -> R (in Ref. 1; AAC37564).		cAMP 2.			
PRKAR2B	0	broad.mit.edu	GRCh37	7	106786905	106786905	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G			TCGA-14-1450-01	TCGA-14-1450-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265717.4:c.740T>G	p.Leu247Trp	p.L247W	ENST00000265717	NM_002736.2	247	tTg/tGg	0			1			G	L/W	uc003vdx.2	protein_coding	YES	CCDS5740.1			740/1257									ovary(1)	1	c.(739-741)TTG>TGG			Gene3D:2.60.120.10,Pfam_domain:PF00027,PIRSF_domain:PIRSF000548,PROSITE_profiles:PS50042,hmmpanther:PTHR11635,hmmpanther:PTHR11635:SF121,SMART_domains:SM00100,Superfamily_domains:SSF51206	cAMP-dependent protein kinase, regulatory				ENSP00000265717		11-Jun									COSM3411454	11-Jun	.		ENST00000265717	Transcript			activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity	ENSG00000005249	g.chr7:106786905T>G	9392			MODERATE		4.32	high	getma.org/?cm=msa&ty=f&p=KAP3_HUMAN&rb=172&re=261&var=L247W	getma.org/pdb.php?prot=KAP3_HUMAN&from=172&to=261&var=L247W	getma.org/?cm=var&var=hg19,7,106786905,T,G&fts=all	L247W	--	--	1																																			1	1		probably_damaging(1)	p.L247W	NM_002736	NP_002727		deleterious(0)	1	KAP3_HUMAN	PRKAR2B	HGNC	P31323	KAP3_HUMAN			Q75MP1_HUMAN,O60380_HUMAN,A3R6R8_HUMAN		6	915	+			UPI000013D669	247			cAMP 1.		SNV	PRKAR2B,missense_variant,p.Leu247Trp,ENST00000265717,NM_002736.2;PRKAR2B,non_coding_transcript_exon_variant,,ENST00000488792,;	uc003vdx.2	c.740T>G	999/3745	4	4			c.740T>G						7	SNP	c.(739-741)TTG>TGG	22	22			ovary(1)	1	Broad	cAMP-dependent protein kinase, regulatory			106786905		0.398	ENSG00000005249	12298	g.chr7:106786905T>G	activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity							40.060277	KEEP	11	6	-1	40	30	11	6	-1	46.752139	40	30	0.2	1	0	0	0	0	1	0	0	0	--	--		0	G				145	GBM-14-1450-TP	p.L247W	T	CTGTGGGGTTTGGTGAGTAAA	NM_002736	NP_002727	106786905	P31323	KAP3_HUMAN	0			6	915	+	G	G			Missense_Mutation	247			cAMP 1.			
PRKCA	0	broad.mit.edu	GRCh37	17	64299034	64299034	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-81-5910-01	TCGA-81-5910-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000413366.3:c.65G>A	p.Arg22His	p.R22H	ENST00000413366	NM_002737.2	22	cGc/cAc	0			1			A	R/H	uc002jfp.1	protein_coding	YES	CCDS11664.1			65/2019									central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1)	9	c.(64-66)CGC>CAC			hmmpanther:PTHR24357:SF65,hmmpanther:PTHR24357,PIRSF_domain:PIRSF000550	protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)			ENSP00000408695		17-Jan									COSM3403129	17-Jan	.		ENST00000413366	Transcript			activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	ENSG00000154229	g.chr17:64299034G>A	9393			MODERATE		2.565	medium	getma.org/?cm=msa&ty=f&p=KPCA_HUMAN&rb=1&re=36&var=R22H	NA	getma.org/?cm=var&var=hg19,17,64299034,G,A&fts=all	R22H	--	--	1																																		PRKCA_uc002jfo.1_5'UTR	1	1		probably_damaging(0.999)	p.R22H	NM_002737	NP_002728		deleterious(0)	1	KPCA_HUMAN	PRKCA	HGNC	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		L7RSM7_HUMAN		1	109	+			UPI000013DD98	22					SNV	PRKCA,missense_variant,p.Arg22His,ENST00000413366,NM_002737.2;PRKCA,non_coding_transcript_exon_variant,,ENST00000583361,;PRKCA,missense_variant,p.Arg20His,ENST00000284384,;PRKCA,missense_variant,p.Arg22His,ENST00000578063,;PRKCA,upstream_gene_variant,,ENST00000583775,;	uc002jfp.1	c.65G>A	91/8751	1	1			c.65G>A						17	SNP	c.(64-66)CGC>CAC	64	64			central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1)	9	Broad	protein kinase C, alpha		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	64299034		0.642	ENSG00000154229	12299	g.chr17:64299034G>A	activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			554			554	3.112345	KEEP	1	2	-1	13	15	1	2	-1	6.895664	13	15	0.115385	1	0	0	0	0	1	0	0	0	--	--		0	A			PRKCA_uc002jfo.1_5'UTR	289	GBM-81-5910-TP	p.R22H	G	CGCTTCGCCCGCAAAGGGGCG	NM_002737	NP_002728	64299034	P17252	KPCA_HUMAN	0	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		1	109	+	A	A			Missense_Mutation	22						
PRKCB	5579	broad.mit.edu	GRCh37	16	24166139	24166139	+	synonymous_variant	Silent	SNP	G	G	A	rs141827066		TCGA-06-0749-01	TCGA-06-0749-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303531.7:c.1200G>A	p.Pro400=	p.P400=	ENST00000303531	NM_002738.6	400	ccG/ccA	0	T:0		1			A	P	uc002dmd.2	protein_coding		CCDS10618.1			1200/2016								p.P400P(1)	ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9	c.(1198-1200)CCG>CCA			Gene3D:3.30.200.20,Pfam_domain:PF00069,PIRSF_domain:PIRSF000550,PROSITE_profiles:PS50011,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF63,SMART_domains:SM00220,Superfamily_domains:SSF56112	protein kinase C, beta isoform 1	Vitamin E(DB00163)		T:0.0006	ENSP00000318315		17-Oct	7.41E-05		8.99E-05			0.000123			rs141827066,COSM13379,COSM460576,COSM460577	17-Oct	.		ENST00000321728	Transcript			apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	ENSG00000166501	g.chr16:24166139G>A	9395			LOW								--	--	1																																		PRKCB_uc002dme.2_Silent_p.P400P	0,1,1,1				p.P400P	NM_212535	NP_997700			0,1,1,1	KPCB_HUMAN	PRKCB	HGNC	P05771	KPCB_HUMAN			I3L1Z0_HUMAN		10	1397	+			UPI000012DF67	400			Protein kinase.		SNV	PRKCB,synonymous_variant,p.=,ENST00000303531,NM_002738.6;PRKCB,synonymous_variant,p.=,ENST00000321728,NM_212535.2;PRKCB,synonymous_variant,p.=,ENST00000472066,;	uc002dmd.2	c.1200G>A	1375/2689	1	1			c.1200G>A						16	SNP	c.(1198-1200)CCG>CCA	52	52		p.P400P(1)	ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9	Broad	protein kinase C, beta isoform 1		Vitamin E(DB00163)	24166139		0.567	ENSG00000166501	12300	g.chr16:24166139G>A	apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding		p.P400P(NCIH1869-Tumor)|p.P400P(OCIAML3-Tumor)|p.P400P(SUDHL5-Tumor)	395		p.P400P(NCIH1869-Tumor)|p.P400P(OCIAML3-Tumor)|p.P400P(SUDHL5-Tumor)	395	19.890221	KEEP	4	4	-1	14	8	4	4	-1	20.892009	14	8	0.296296	1	0	0	0	0	0	0	1	0	--	--		0	A			PRKCB_uc002dme.2_Silent_p.P400P	69	GBM-06-0749-TP	p.P400P	G	CTGGGAAGCCGCCCTTCCTGA	NM_212535	NP_997700	24166139	P05771	KPCB_HUMAN	0			10	1397	+	A	A			Silent	400			Protein kinase.			
PRKCB	0	broad.mit.edu	GRCh37	16	24166173	24166173	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-6391-01	TCGA-06-6391-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321728.7:c.1234A>G	p.Thr412Ala	p.T412A	ENST00000321728	NM_212535.2	412	Acc/Gcc	0			1			G	T/A	uc002dmd.2	protein_coding		CCDS10618.1			1234/2016									ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9	c.(1234-1236)ACC>GCC			Gene3D:3.30.200.20,Pfam_domain:PF00069,PIRSF_domain:PIRSF000550,PROSITE_profiles:PS50011,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF63,SMART_domains:SM00220,Superfamily_domains:SSF56112	protein kinase C, beta isoform 1	Vitamin E(DB00163)			ENSP00000318315		17-Oct										17-Oct	.		ENST00000321728	Transcript			apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	ENSG00000166501	g.chr16:24166173A>G	9395			MODERATE		2.225	medium	getma.org/?cm=msa&ty=f&p=KPCB_HUMAN&rb=342&re=600&var=T412A	getma.org/pdb.php?prot=KPCB_HUMAN&from=342&to=600&var=T412A	getma.org/?cm=var&var=hg19,16,24166173,A,G&fts=all	T412A	--	--	1																																		PRKCB_uc002dme.2_Missense_Mutation_p.T412A				benign(0.064)	p.T412A	NM_212535	NP_997700		deleterious(0)		KPCB_HUMAN	PRKCB	HGNC	P05771	KPCB_HUMAN			I3L1Z0_HUMAN		10	1431	+			UPI000012DF67	412			Protein kinase.		SNV	PRKCB,missense_variant,p.Thr412Ala,ENST00000303531,NM_002738.6;PRKCB,missense_variant,p.Thr412Ala,ENST00000321728,NM_212535.2;PRKCB,missense_variant,p.Thr59Ala,ENST00000472066,;	uc002dmd.2	c.1234A>G	1409/2689	3	3			c.1234A>G						16	SNP	c.(1234-1236)ACC>GCC	52	52			ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9	Broad	protein kinase C, beta isoform 1		Vitamin E(DB00163)	24166173		0.582	ENSG00000166501	12300	g.chr16:24166173A>G	apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			395			395	18.340068	KEEP	2	5	-1	9	13	2	5	-1	20.25301	9	13	0.222222	1	0	0	0	0	1	0	0	0	--	--		0	G			PRKCB_uc002dme.2_Missense_Mutation_p.T412A	107	GBM-06-6391-TP	p.T412A	A	CTGCTTCCAGACCATGGTAAC	NM_212535	NP_997700	24166173	P05771	KPCB_HUMAN	0			10	1431	+	G	G			Missense_Mutation	412			Protein kinase.			
PRKCB	0	broad.mit.edu	GRCh37	16	24185839	24185839	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	T			TCGA-27-1834-01	TCGA-27-1834-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321728.7:c.1332A>T	p.Val444=	p.V444=	ENST00000321728	NM_212535.2	444	gtA/gtT	0			1			T	V	uc002dmd.2	protein_coding		CCDS10618.1			1332/2016									ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9	c.(1330-1332)GTA>GTT			Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF000550,PROSITE_profiles:PS50011,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF63,SMART_domains:SM00220,Superfamily_domains:SSF56112	protein kinase C, beta isoform 1	Vitamin E(DB00163)			ENSP00000318315		17-Dec	0.000807	0.000195	0.000449	0.000356	0.00137	0.000561		6.25E-05	rs751735254,COSM3747988,COSM3747989,COSM3747990	17-Dec	common_variant		ENST00000321728	Transcript			apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	ENSG00000166501	g.chr16:24185839A>T	9395			LOW								--	--	1																																		PRKCB_uc002dme.2_Silent_p.V444V	0,1,1,1				p.V444V	NM_212535	NP_997700			0,1,1,1	KPCB_HUMAN	PRKCB	HGNC	P05771	KPCB_HUMAN			I3L1Z0_HUMAN		12	1529	+			UPI000012DF67	444			Protein kinase.		SNV	PRKCB,splice_region_variant,p.=,ENST00000303531,NM_002738.6;PRKCB,splice_region_variant,p.=,ENST00000321728,NM_212535.2;PRKCB,splice_region_variant,p.=,ENST00000472066,;PRKCB,splice_region_variant,,ENST00000463752,;PRKCB,non_coding_transcript_exon_variant,,ENST00000487674,;	uc002dmd.2	c.1332A>T	1507/2689	1	1			c.1332A>T						16	SNP	c.(1330-1332)GTA>GTT	11	11			ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9	Broad	protein kinase C, beta isoform 1		Vitamin E(DB00163)	24185839		0.383	ENSG00000166501	12300	g.chr16:24185839A>T	apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			395			395	-10.031883	KEEP	3	6	-1	49	41	3	6	-1	6.368308	49	41	0.060976	1	0	0	0	0	0	0	1	0	--	--		0	T			PRKCB_uc002dme.2_Silent_p.V444V	193	GBM-27-1834-TP	p.V444V	A	TTAATTTCAGATTTTACGCTG	NM_212535	NP_997700	24185839	P05771	KPCB_HUMAN	0			12	1529	+	T	T			Silent	444			Protein kinase.			
PRKCD	5580	broad.mit.edu	GRCh37	3	53213676	53213676	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394729.2:c.199C>T	p.Arg67Cys	p.R67C	ENST00000394729	NM_212539.1	67	Cgc/Tgc	0			1			T	R/C	uc003dgl.2	protein_coding		CCDS2870.1			199/2031								p.R67C(1)	central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9	c.(199-201)CGC>TGC			hmmpanther:PTHR24352:SF32,hmmpanther:PTHR24352,Gene3D:2.60.40.150,PIRSF_domain:PIRSF000551,PIRSF_domain:PIRSF501104,Superfamily_domains:SSF49562	protein kinase C, delta				ENSP00000331602		19-Apr									COSM35412,COSM1424610	19-Apr	.		ENST00000330452	Transcript	1		activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	ENSG00000163932	g.chr3:53213676C>T	9399			MODERATE		2.745	medium	getma.org/?cm=msa&ty=f&p=KPCD_HUMAN&rb=1&re=90&var=R67C	getma.org/pdb.php?prot=KPCD_HUMAN&from=1&to=90&var=R67C	getma.org/?cm=var&var=hg19,3,53213676,C,T&fts=all	R67C	--	--	1																																		PRKCD_uc003dgm.2_Missense_Mutation_p.R67C|PRKCD_uc003dgn.2_Missense_Mutation_p.R67C	1,1			probably_damaging(0.999)	p.R67C	NM_006254	NP_006245		deleterious(0)	1,1	KPCD_HUMAN	PRKCD	HGNC	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	C9JZU8_HUMAN,C9J9P1_HUMAN,B4DFV1_HUMAN		4	552	+		Ovarian(412;0.0728)	UPI000000DA36	67			C2.	Interaction with phosphotyrosine- containing peptide.	SNV	PRKCD,missense_variant,p.Arg67Cys,ENST00000394729,NM_212539.1;PRKCD,missense_variant,p.Arg67Cys,ENST00000330452,NM_006254.3;PRKCD,missense_variant,p.Arg67Cys,ENST00000464818,;PRKCD,missense_variant,p.Arg67Cys,ENST00000478843,;PRKCD,missense_variant,p.Arg67Cys,ENST00000487897,;PRKCD,downstream_gene_variant,,ENST00000477794,;	uc003dgl.2	c.199C>T	560/2680	2	2			c.199C>T						3	SNP	c.(199-201)CGC>TGC	46	46		p.R67C(1)	central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9	Broad	protein kinase C, delta			53213676		0.582	ENSG00000163932	12301	g.chr3:53213676C>T	activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			215			215	59.164398	KEEP	11	10	-1	19	13	11	10	-1	59.327408	19	13	0.4375	1	0	0	0	0	1	0	0	0	--	--		0	T			PRKCD_uc003dgm.2_Missense_Mutation_p.R67C|PRKCD_uc003dgn.2_Missense_Mutation_p.R67C	23	GBM-06-0145-TP	p.R67C	C	CTATGAGGGGCGCGTCATCCA	NM_006254	NP_006245	53213676	Q05655	KPCD_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	4	552	+	T	T		Ovarian(412;0.0728)	Missense_Mutation	67			C2.	Interaction with phosphotyrosine- containing peptide.		
PRKCD	0	broad.mit.edu	GRCh37	3	53220653	53220653	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-14-4157-01	TCGA-14-4157-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330452.3:c.1300delG	p.Asp434ThrfsTer2	p.D434Tfs*2	ENST00000330452	NM_006254.3	432	Ggg/gg	0			1			-	G/X	uc003dgl.2	protein_coding		CCDS2870.1			1294/2031									central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9	c.(1294-1296)GGGfs			PROSITE_profiles:PS50011,hmmpanther:PTHR24352:SF32,hmmpanther:PTHR24352,Pfam_domain:PF00069,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000551,PIRSF_domain:PIRSF501104,SMART_domains:SM00220,Superfamily_domains:SSF56112	protein kinase C, delta				ENSP00000331602		14/19									COSM1424622,COSM1424621	14/19	.		ENST00000330452	Transcript	1		activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	ENSG00000163932	g.chr3:53220653delG	9399	6		HIGH								--	--	1																																		PRKCD_uc003dgm.2_Frame_Shift_Del_p.G432fs	1,1				p.G432fs	NM_006254	NP_006245			1,1	KPCD_HUMAN	PRKCD	HGNC	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	C9JZU8_HUMAN,C9J9P1_HUMAN,B4DFV1_HUMAN		14	1647	+		Ovarian(412;0.0728)	UPI000000DA36	432			Protein kinase.		deletion	PRKCD,frameshift_variant,p.Asp434ThrfsTer2,ENST00000394729,NM_212539.1;PRKCD,frameshift_variant,p.Asp434ThrfsTer2,ENST00000330452,NM_006254.3;PRKCD,downstream_gene_variant,,ENST00000464818,;	uc003dgl.2	c.1294delG	1655/2680	5	5			c.1294delG						3	DEL	c.(1294-1296)GGGfs	18	18			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9	Broad	protein kinase C, delta			53220653		0.602	ENSG00000163932	12301	g.chr3:53220653delG	activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding		p.G432W(QGP1-Tumor)	215		p.G432W(QGP1-Tumor)	215														0.01	1	1	0	1	0	0	0	0	0	--	--		0	-			PRKCD_uc003dgm.2_Frame_Shift_Del_p.G432fs	152	GBM-14-4157-TP	p.G432fs	G	GTTCCTCAACGGGGGGGACCT	NM_006254	NP_006245	53220653	Q05655	KPCD_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	14	1647	+	-	-		Ovarian(412;0.0728)	Frame_Shift_Del	432			Protein kinase.			
PRKCD	0	broad.mit.edu	GRCh37	3	53220653	53220653	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-26-5133-01	TCGA-26-5133-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330452.3:c.1300delG	p.Asp434ThrfsTer2	p.D434Tfs*2	ENST00000330452	NM_006254.3	432	Ggg/gg	0			1			-	G/X	uc003dgl.2	protein_coding		CCDS2870.1			1294/2031									central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9	c.(1294-1296)GGGfs			PROSITE_profiles:PS50011,hmmpanther:PTHR24352:SF32,hmmpanther:PTHR24352,Pfam_domain:PF00069,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000551,PIRSF_domain:PIRSF501104,SMART_domains:SM00220,Superfamily_domains:SSF56112	protein kinase C, delta				ENSP00000331602		14/19									COSM1424622,COSM1424621	14/19	.		ENST00000330452	Transcript	1		activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	ENSG00000163932	g.chr3:53220653delG	9399	6		HIGH								--	--	1																																		PRKCD_uc003dgm.2_Frame_Shift_Del_p.G432fs	1,1				p.G432fs	NM_006254	NP_006245			1,1	KPCD_HUMAN	PRKCD	HGNC	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	C9JZU8_HUMAN,C9J9P1_HUMAN,B4DFV1_HUMAN		14	1647	+		Ovarian(412;0.0728)	UPI000000DA36	432			Protein kinase.		deletion	PRKCD,frameshift_variant,p.Asp434ThrfsTer2,ENST00000394729,NM_212539.1;PRKCD,frameshift_variant,p.Asp434ThrfsTer2,ENST00000330452,NM_006254.3;PRKCD,downstream_gene_variant,,ENST00000464818,;	uc003dgl.2	c.1294delG	1655/2680	5	5			c.1294delG						3	DEL	c.(1294-1296)GGGfs	18	18			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9	Broad	protein kinase C, delta			53220653		0.602	ENSG00000163932	12301	g.chr3:53220653delG	activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding		p.G432W(QGP1-Tumor)	215		p.G432W(QGP1-Tumor)	215														0.01	1	1	0	1	0	0	0	0	0	--	--		0	-			PRKCD_uc003dgm.2_Frame_Shift_Del_p.G432fs	182	GBM-26-5133-TP	p.G432fs	G	GTTCCTCAACGGGGGGGACCT	NM_006254	NP_006245	53220653	Q05655	KPCD_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	14	1647	+	-	-		Ovarian(412;0.0728)	Frame_Shift_Del	432			Protein kinase.			
PRKCD	5580		GRCh37	3	53222823	53222823	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000394729.2:c.1503G>A	p.Gly501=	p.G501=	ENST00000394729	NM_212539.1	501	ggG/ggA	0																																																																																																																																																																																																																																												
PRKCE	0	broad.mit.edu	GRCh37	2	46228662	46228662	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-1790-01	TCGA-19-1790-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306156.3:c.943A>G	p.Asn315Asp	p.N315D	ENST00000306156	NM_005400.2	315	Aac/Gac	0			1			G	N/D	uc002rut.2	protein_coding	YES	CCDS1824.1			943/2214									lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10	c.(943-945)AAC>GAC			PIRSF_domain:PIRSF501106,PIRSF_domain:PIRSF000551,hmmpanther:PTHR24357:SF52,hmmpanther:PTHR24357	protein kinase C, epsilon				ENSP00000306124		15-Jul									COSM3407874	15-Jul	.		ENST00000306156	Transcript			activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity	ENSG00000171132	g.chr2:46228662A>G	9401			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=KPCE_HUMAN&rb=296&re=407&var=N315D	NA	getma.org/?cm=var&var=hg19,2,46228662,A,G&fts=all	N315D	--	--	1																																			1	1		benign(0.001)	p.N315D	NM_005400	NP_005391		tolerated(0.54)	1	KPCE_HUMAN	PRKCE	HGNC	Q02156	KPCE_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.171)		Q53RT0_HUMAN,L7RTI5_HUMAN,C9JR22_HUMAN		7	1140	+		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	UPI000012DF6B	315					SNV	PRKCE,missense_variant,p.Asn315Asp,ENST00000306156,NM_005400.2;PRKCE,missense_variant,p.Asn38Asp,ENST00000394874,;AC017078.1,downstream_gene_variant,,ENST00000416146,;	uc002rut.2	c.943A>G	1270/5650	3	3			c.943A>G						2	SNP	c.(943-945)AAC>GAC	5	5			lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10	Broad	protein kinase C, epsilon			46228662		0.552	ENSG00000171132	12303	g.chr2:46228662A>G	activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity			460			460	2.631461	KEEP	0	2	-1	6	17	0	2	-1	6.864869	6	17	0.083333	1	0	0	0	0	1	0	0	0	--	--		0	G				160	GBM-19-1790-TP	p.N315D	A	CAAAATCACCAACAGCGGCCA	NM_005400	NP_005391	46228662	Q02156	KPCE_HUMAN	0	LUSC - Lung squamous cell carcinoma(58;0.171)		7	1140	+	G	G		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	Missense_Mutation	315						
PRKCG	0	broad.mit.edu	GRCh37	19	54401216	54401216	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01	TCGA-14-3476-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263431.3:c.943G>A	p.Val315Met	p.V315M	ENST00000263431	NM_002739.3	315	Gtg/Atg	0			1			A	V/M	uc002qcq.1	protein_coding	YES	CCDS12867.1			943/2094									lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	c.(943-945)GTG>ATG			PIRSF_domain:PIRSF000550,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF64	protein kinase C, gamma				ENSP00000263431		18-Oct									COSM3404564,COSM3404565	18-Oct	.		ENST00000263431	Transcript	1		activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	ENSG00000126583	g.chr19:54401216G>A	9402			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=KPCG_HUMAN&rb=261&re=350&var=V315M	NA	getma.org/?cm=var&var=hg19,19,54401216,G,A&fts=all	V315M	--	--	1																																		PRKCG_uc010yef.1_Silent_p.G285G|PRKCG_uc010yeg.1_Missense_Mutation_p.V315M|PRKCG_uc010yeh.1_Missense_Mutation_p.V202M	1,1	1		benign(0.025)	p.V315M	NM_002739	NP_002730		tolerated(0.14)	1,1	KPCG_HUMAN	PRKCG	HGNC	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	M0R0Z4_HUMAN,M0R0I9_HUMAN,H7BZ60_HUMAN		10	1225	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		UPI000000DC69	315	RVRM -> VSRT (in Ref. 3; AAA60102).				SNV	PRKCG,missense_variant,p.Val315Met,ENST00000263431,NM_002739.3;PRKCG,missense_variant,p.Val315Met,ENST00000540413,;PRKCG,missense_variant,p.Val202Met,ENST00000542049,;PRKCG,synonymous_variant,p.=,ENST00000536044,;	uc002qcq.1	c.943G>A	1225/3133	2	2			c.943G>A						19	SNP	c.(943-945)GTG>ATG	33	33			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	Broad	protein kinase C, gamma			54401216		0.468	ENSG00000126583	12304	g.chr19:54401216G>A	activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			505			505	-73.333114	KEEP	2	4	-1	140	188	2	4	-1	8.02505	140	188	0.019169	1	0	0	0	0	1	0	0	0	--	--		0	A			PRKCG_uc010yef.1_Silent_p.G285G|PRKCG_uc010yeg.1_Missense_Mutation_p.V315M|PRKCG_uc010yeh.1_Missense_Mutation_p.V202M	151	GBM-14-3476-TP	p.V315M	G	TCCACAGCGGGTGCGGATGGG	NM_002739	NP_002730	54401216	P05129	KPCG_HUMAN	0		GBM - Glioblastoma multiforme(134;0.0521)	10	1225	+	A	A	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		Missense_Mutation	315	RVRM -> VSRT (in Ref. 3; AAA60102).					
PRKCG	0	broad.mit.edu	GRCh37	19	54395012	54395012	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1991-01	TCGA-32-1991-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263431.3:c.614G>A	p.Arg205Gln	p.R205Q	ENST00000263431	NM_002739.3	205	cGg/cAg	0			1			A	R/Q	uc002qcq.1	protein_coding	YES	CCDS12867.1			614/2094									lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	c.(613-615)CGG>CAG			Superfamily_domains:SSF49562,PIRSF_domain:PIRSF000550,SMART_domains:SM00239,Gene3D:2.60.40.150,Pfam_domain:PF00168,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF64,PROSITE_profiles:PS50004	protein kinase C, gamma				ENSP00000263431		18-Jun	1.65E-05		8.64E-05			1.50E-05			rs762399754,COSM2929211,COSM192959	18-Jun	.		ENST00000263431	Transcript	1		activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	ENSG00000126583	g.chr19:54395012G>A	9402			MODERATE		0.755	neutral	getma.org/?cm=msa&ty=f&p=KPCG_HUMAN&rb=173&re=260&var=R205Q	getma.org/pdb.php?prot=KPCG_HUMAN&from=173&to=260&var=R205Q	getma.org/?cm=var&var=hg19,19,54395012,G,A&fts=all	R205Q	--	--	1																																		PRKCG_uc010eqz.1_Missense_Mutation_p.R205Q|PRKCG_uc010yef.1_Missense_Mutation_p.R205Q|PRKCG_uc010yeg.1_Missense_Mutation_p.R205Q|PRKCG_uc010yeh.1_Missense_Mutation_p.R92Q	0,1,1	1		benign(0.003)	p.R205Q	NM_002739	NP_002730		tolerated(0.07)	0,1,1	KPCG_HUMAN	PRKCG	HGNC	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	M0R0Z4_HUMAN,M0R0I9_HUMAN,H7BZ60_HUMAN		6	896	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		UPI000000DC69	205			C2.		SNV	PRKCG,missense_variant,p.Arg205Gln,ENST00000263431,NM_002739.3;PRKCG,missense_variant,p.Arg205Gln,ENST00000540413,;PRKCG,missense_variant,p.Arg92Gln,ENST00000542049,;PRKCG,missense_variant,p.Arg205Gln,ENST00000536044,;PRKCG,missense_variant,p.Arg77Gln,ENST00000474397,;PRKCG,downstream_gene_variant,,ENST00000479081,;PRKCG,downstream_gene_variant,,ENST00000419486,;	uc002qcq.1	c.614G>A	896/3133	2	2			c.614G>A						19	SNP	c.(613-615)CGG>CAG	47	47			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	Broad	protein kinase C, gamma			54395012		0.532	ENSG00000126583	12304	g.chr19:54395012G>A	activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			505			505	77.531628	KEEP	17	24	-1	86	127	17	24	-1	104.433624	86	127	0.157676	1	0	0	0	0	1	0	0	0	--	--		0	A			PRKCG_uc010eqz.1_Missense_Mutation_p.R205Q|PRKCG_uc010yef.1_Missense_Mutation_p.R205Q|PRKCG_uc010yeg.1_Missense_Mutation_p.R205Q|PRKCG_uc010yeh.1_Missense_Mutation_p.R92Q	234	GBM-32-1991-TP	p.R205Q	G	CCAGACCCTCGGAACCTGACG	NM_002739	NP_002730	54395012	P05129	KPCG_HUMAN	0		GBM - Glioblastoma multiforme(134;0.0521)	6	896	+	A	A	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		Missense_Mutation	205			C2.			
PRKCQ	5588	broad.mit.edu	GRCh37	10	6553040	6553040	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs148376969		TCGA-06-0155-01	TCGA-06-0155-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263125.5:c.235G>A	p.Val79Met	p.V79M	ENST00000263125	NM_006257.3	79	Gtg/Atg	0	T:0	T:0	1	T:0		T	V/M	uc001ijj.1	protein_coding	YES	CCDS7079.1			235/2121									ovary(3)|lung(2)|large_intestine(1)	6	c.(235-237)GTG>ATG			Gene3D:2.60.40.150,PIRSF_domain:PIRSF000551,PIRSF_domain:PIRSF501105,hmmpanther:PTHR24352,hmmpanther:PTHR24352:SF43,Superfamily_domains:SSF49562	protein kinase C, theta		T:0	T:0.0001	ENSP00000263125	T:0.001	18-Mar	4.94E-05	9.61E-05		0.000116		5.99E-05			rs148376969,COSM1348611	18-Mar	.		ENST00000263125	Transcript		T:0.0002	axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	ENSG00000065675	g.chr10:6553040C>T	9410			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=KPCT_HUMAN&rb=8&re=123&var=V79M	getma.org/pdb.php?prot=KPCT_HUMAN&from=8&to=123&var=V79M	getma.org/?cm=var&var=hg19,10,6553040,C,T&fts=all	V79M	--	--	1																																		PRKCQ_uc009xim.1_Missense_Mutation_p.V79M|PRKCQ_uc001iji.1_Missense_Mutation_p.V112M|PRKCQ_uc009xin.1_Missense_Mutation_p.V43M|PRKCQ_uc010qax.1_Translation_Start_Site	0,1	1		benign(0.004)	p.V79M	NM_006257	NP_006248	T:0	tolerated(0.12)	0,1	KPCT_HUMAN	PRKCQ	HGNC	Q04759	KPCT_HUMAN					3	310	-			UPI000012DF74	79			C2.		SNV	PRKCQ,missense_variant,p.Val79Met,ENST00000263125,NM_006257.3,NM_001282644.1;PRKCQ,missense_variant,p.Val79Met,ENST00000397176,NM_001242413.1;PRKCQ,5_prime_UTR_variant,,ENST00000539722,NM_001282645.1;	uc001ijj.1	c.235G>A	335/3285	1	1			c.235G>A						10	SNP	c.(235-237)GTG>ATG	7	7			ovary(3)|lung(2)|large_intestine(1)	6	Broad	protein kinase C, theta			6553040		0.478	ENSG00000065675	12307	g.chr10:6553040C>T	axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	Ovarian(50;572 1126 10530 25349 30594)		435	Ovarian(50;572 1126 10530 25349 30594)		435	287.247005	KEEP	44	58	-1	26	42	44	58	-1	288.192893	26	42	0.583333	1	0	0	0	0	1	0	0	0	--	--		0	T			PRKCQ_uc009xim.1_Missense_Mutation_p.V79M|PRKCQ_uc001iji.1_Missense_Mutation_p.V112M|PRKCQ_uc009xin.1_Missense_Mutation_p.V43M|PRKCQ_uc010qax.1_Translation_Start_Site	27	GBM-06-0155-TP	p.V79M	C	ATGAGGTCCACGTTTTTGCCT	NM_006257	NP_006248	6553040	Q04759	KPCT_HUMAN	0			3	310	-	T	T			Missense_Mutation	79			C2.			
PRKCQ	5588		GRCh37	10	6470257	6470257	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0151-01	TCGA-06-0151-01																				ENST00000263125.5:c.2033C>T	p.Ala678Val	p.A678V	ENST00000263125	NM_006257.3	678	gCc/gTc	0																																																																																																																																																																																																																																												
PRKCSH	5589	broad.mit.edu	GRCh37	19	11559740	11559740	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252455.2:c.1277G>A	p.Arg426His	p.R426H	ENST00000252455	NM_002743.2	426	cGc/cAc	0			1			A	R/H	uc002mrt.2	protein_coding		CCDS32911.1			1277/1587										0	c.(1276-1278)CGC>CAC			hmmpanther:PTHR12630:SF1,hmmpanther:PTHR12630,Pfam_domain:PF13015,Superfamily_domains:SSF50911	protein kinase C substrate 80K-H isoform 1				ENSP00000465461		14/17									COSM2149620	14/17	.		ENST00000589838	Transcript	1		innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	ENSG00000130175	g.chr19:11559740G>A	9411			MODERATE		1.645	low	getma.org/?cm=msa&ty=f&p=GLU2B_HUMAN&rb=373&re=523&var=R426H	getma.org/pdb.php?prot=GLU2B_HUMAN&from=373&to=523&var=R426H	getma.org/?cm=var&var=hg19,19,11559740,G,A&fts=all	R426H	--	--	1																																		PRKCSH_uc002mru.2_Missense_Mutation_p.R423H|PRKCSH_uc010xlz.1_Missense_Mutation_p.R433H|PRKCSH_uc010dya.2_Missense_Mutation_p.R208H|PRKCSH_uc010dyb.2_Missense_Mutation_p.R423H	1			probably_damaging(1)	p.R426H	NM_002743	NP_002734		deleterious(0)	1	GLU2B_HUMAN	PRKCSH	HGNC	P14314	GLU2B_HUMAN			K7EPW7_HUMAN,K7EKX1_HUMAN,K7EJ70_HUMAN,K7EIP3_HUMAN		15	1613	+			UPI000007007F	426			PRKCSH.		SNV	PRKCSH,missense_variant,p.Arg426His,ENST00000252455,NM_002743.2;PRKCSH,missense_variant,p.Arg423His,ENST00000412601,NM_001001329.1;PRKCSH,missense_variant,p.Arg423His,ENST00000591462,;PRKCSH,missense_variant,p.Arg423His,ENST00000587327,;PRKCSH,missense_variant,p.Arg433His,ENST00000592741,;PRKCSH,missense_variant,p.Arg426His,ENST00000589838,;ELAVL3,downstream_gene_variant,,ENST00000359227,NM_001420.3,NM_032281.2;PRKCSH,upstream_gene_variant,,ENST00000591510,;PRKCSH,missense_variant,p.Arg98His,ENST00000586486,;PRKCSH,non_coding_transcript_exon_variant,,ENST00000590098,;PRKCSH,non_coding_transcript_exon_variant,,ENST00000587290,;PRKCSH,non_coding_transcript_exon_variant,,ENST00000592435,;PRKCSH,downstream_gene_variant,,ENST00000592445,;PRKCSH,downstream_gene_variant,,ENST00000585325,;PRKCSH,downstream_gene_variant,,ENST00000589990,;PRKCSH,downstream_gene_variant,,ENST00000585540,;	uc002mrt.2	c.1277G>A	1277/1898	2	2			c.1277G>A						19	SNP	c.(1276-1278)CGC>CAC	41	41				0	Broad	protein kinase C substrate 80K-H isoform 1			11559740		0.647	ENSG00000130175	12308	g.chr19:11559740G>A	innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding							228.177775	KEEP	37	53	-1	84	109	37	53	-1	233.555	84	109	0.341564	1	0	0	0	0	1	0	0	0	--	--		0	A			PRKCSH_uc002mru.2_Missense_Mutation_p.R423H|PRKCSH_uc010xlz.1_Missense_Mutation_p.R433H|PRKCSH_uc010dya.2_Missense_Mutation_p.R208H|PRKCSH_uc010dyb.2_Missense_Mutation_p.R423H	18	GBM-06-0137-TP	p.R426H	G	TACGTCTACCGCCTCTGCCCC	NM_002743	NP_002734	11559740	P14314	GLU2B_HUMAN	0			15	1613	+	A	A			Missense_Mutation	426			PRKCSH.			
PRKD1	0	broad.mit.edu	GRCh37	14	30068325	30068325	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331968.5:c.2074G>A	p.Val692Met	p.V692M	ENST00000331968	NM_002742.2	692	Gtg/Atg	0			1			T	V/M	uc001wqh.2	protein_coding	YES	CCDS9637.1			2074/2739									lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	c.(2074-2076)GTG>ATG			Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF000552,PROSITE_profiles:PS50011,hmmpanther:PTHR22968,SMART_domains:SM00220,Superfamily_domains:SSF56112	protein kinase D1				ENSP00000333568		15/18									rs758594741,COSM2154773,COSM2154772	15/18	.		ENST00000331968	Transcript	1		cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	ENSG00000184304	g.chr14:30068325C>T	9407			MODERATE		0.93	low	getma.org/?cm=msa&ty=f&p=KPCD1_HUMAN&rb=585&re=839&var=V692M	getma.org/pdb.php?prot=KPCD1_HUMAN&from=585&to=839&var=V692M	getma.org/?cm=var&var=hg19,14,30068325,C,T&fts=all	V692M	--	--	1																																			0,1,1	1		possibly_damaging(0.657)	p.V692M	NM_002742	NP_002733		tolerated(0.12)	0,1,1	KPCD1_HUMAN	PRKD1	HGNC	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	Q1KKQ2_HUMAN		15	2255	-	Hepatocellular(127;0.0604)		UPI0000456761	692			Protein kinase.		SNV	PRKD1,missense_variant,p.Val692Met,ENST00000331968,NM_002742.2;PRKD1,missense_variant,p.Val700Met,ENST00000415220,;PRKD1,upstream_gene_variant,,ENST00000490795,;	uc001wqh.2	c.2074G>A	2304/3726	2	2			c.2074G>A						14	SNP	c.(2074-2076)GTG>ATG	48	48			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Broad	protein kinase D1			30068325		0.368	ENSG00000184304	12310	g.chr14:30068325C>T	cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			428			428	48.828327	KEEP	7	11	-1	32	17	7	11	-1	51.735519	32	17	0.276923	1	0	0	0	0	1	0	0	0	--	--		0	T				138	GBM-14-0813-TP	p.V692M	C	CGCAAAGCCACGAGTATCTGT	NM_002742	NP_002733	30068325	Q15139	KPCD1_HUMAN	0	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	15	2255	-	T	T	Hepatocellular(127;0.0604)		Missense_Mutation	692			Protein kinase.			
PRKD2	0	broad.mit.edu	GRCh37	19	47181674	47181674	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs55933311		TCGA-16-1045-01	TCGA-16-1045-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000291281.4:c.2317T>G	p.Trp773Gly	p.W773G	ENST00000291281		773	Tgg/Ggg	0			1			C	W/G	uc002pfh.2	protein_coding		CCDS12689.1			2317/2637									ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7	c.(2317-2319)TGG>GGG			PROSITE_profiles:PS50011,hmmpanther:PTHR22968,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,PIRSF_domain:PIRSF000552,Superfamily_domains:SSF56112	protein kinase D2 isoform A				ENSP00000291281		16/18	0.000255	0.000506		0.000117	0.000499	0.000246			rs55933311,COSM3748061	16/18	common_variant		ENST00000291281	Transcript			cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	ENSG00000105287	g.chr19:47181674A>C	17293			MODERATE		2.35	medium	getma.org/?cm=msa&ty=f&p=KPCD2_HUMAN&rb=553&re=807&var=W773G	getma.org/pdb.php?prot=KPCD2_HUMAN&from=553&to=807&var=W773G	getma.org/?cm=var&var=hg19,19,47181674,A,C&fts=all	W773G	--	--	1																																		PRKD2_uc002pfd.2_Missense_Mutation_p.W147G|PRKD2_uc010eks.2_Missense_Mutation_p.W176G|PRKD2_uc010ekt.2_Missense_Mutation_p.W40G|PRKD2_uc002pfe.2_Missense_Mutation_p.W293G|PRKD2_uc002pff.2_Missense_Mutation_p.W293G|PRKD2_uc002pfg.2_Missense_Mutation_p.W616G|PRKD2_uc002pfi.2_Missense_Mutation_p.W773G|PRKD2_uc002pfj.2_Missense_Mutation_p.W773G|PRKD2_uc010xye.1_Missense_Mutation_p.W773G|PRKD2_uc002pfk.2_Missense_Mutation_p.W616G	0,1			possibly_damaging(0.903)	p.W773G	NM_001079881	NP_001073350		deleterious(0)	0,1	KPCD2_HUMAN	PRKD2	HGNC	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	M0R346_HUMAN,M0R2R2_HUMAN,M0R012_HUMAN		17	2659	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	UPI000013E03A	773			Protein kinase.		SNV	PRKD2,missense_variant,p.Trp773Gly,ENST00000433867,NM_001079881.1,NM_016457.4,NM_001079880.1;PRKD2,missense_variant,p.Trp773Gly,ENST00000291281,;PRKD2,missense_variant,p.Trp773Gly,ENST00000595515,;PRKD2,missense_variant,p.Trp616Gly,ENST00000600194,NM_001079882.1;PRKD2,missense_variant,p.Trp616Gly,ENST00000601806,;DACT3-AS1,downstream_gene_variant,,ENST00000525008,;DACT3-AS1,downstream_gene_variant,,ENST00000525352,;PRKD2,downstream_gene_variant,,ENST00000593492,;PRKD2,3_prime_UTR_variant,,ENST00000597390,;PRKD2,non_coding_transcript_exon_variant,,ENST00000599019,;PRKD2,non_coding_transcript_exon_variant,,ENST00000597589,;PRKD2,non_coding_transcript_exon_variant,,ENST00000602155,;PRKD2,downstream_gene_variant,,ENST00000599464,;	uc002pfh.2	c.2317T>G	2543/3070	4	4			c.2317T>G						19	SNP	c.(2317-2319)TGG>GGG	45	45			ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7	Broad	protein kinase D2 isoform A			47181674		0.642	ENSG00000105287	12311	g.chr19:47181674A>C	cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			242			242	4.549738	KEEP	1	8	-1	21	38	1	8	-1	6.885761	21	38	0.192308	1	0	0	0	0	1	0	0	0	--	--		0	C			PRKD2_uc002pfd.2_Missense_Mutation_p.W147G|PRKD2_uc010eks.2_Missense_Mutation_p.W176G|PRKD2_uc010ekt.2_Missense_Mutation_p.W40G|PRKD2_uc002pfe.2_Missense_Mutation_p.W293G|PRKD2_uc002pff.2_Missense_Mutation_p.W293G|PRKD2_uc002pfg.2_Missense_Mutation_p.W616G|PRKD2_uc002pfi.2_Missense_Mutation_p.W773G|PRKD2_uc002pfj.2_Missense_Mutation_p.W773G|PRKD2_uc010xye.1_Missense_Mutation_p.W773G|PRKD2_uc002pfk.2_Missense_Mutation_p.W616G	157	GBM-16-1045-TP	p.W773G	A	ATGTGGCTCCAGGGGCTGGCC	NM_001079881	NP_001073350	47181674	Q9BZL6	KPCD2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	17	2659	-	C	C		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	Missense_Mutation	773			Protein kinase.			
PRKD3	23683	broad.mit.edu	GRCh37	2	37516578	37516578	+	stop_gained	Nonsense_Mutation	SNP	G	G	C			TCGA-06-0122-01	TCGA-06-0122-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379066.1:c.638C>G	p.Ser213Ter	p.S213*	ENST00000379066		213	tCa/tGa	0			1			C	S/*	uc002rqd.2	protein_coding		CCDS1789.1			638/2673									lung(2)|ovary(1)|central_nervous_system(1)	4	c.(637-639)TCA>TGA			hmmpanther:PTHR22968:SF11,hmmpanther:PTHR22968,PIRSF_domain:PIRSF000552	protein kinase D3				ENSP00000234179		18-Apr									COSM2149239,COSM2149238	18-Apr	.		ENST00000234179	Transcript			activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	ENSG00000115825	g.chr2:37516578G>C	9408			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,37516578,G,C&fts=all	S213*	--	--	1																																		PRKD3_uc002rqf.1_Nonsense_Mutation_p.S213*	1,1				p.S213*	NM_005813	NP_005804			1,1	KPCD3_HUMAN	PRKD3	HGNC	O94806	KPCD3_HUMAN			C9JKP8_HUMAN		4	1193	-		all_hematologic(82;0.21)	UPI0000035B4D	213					SNV	PRKD3,stop_gained,p.Ser213Ter,ENST00000379066,;PRKD3,stop_gained,p.Ser213Ter,ENST00000234179,NM_005813.3;PRKD3,stop_gained,p.Ser109Ter,ENST00000443187,;PRKD3,non_coding_transcript_exon_variant,,ENST00000494667,;PRKD3,non_coding_transcript_exon_variant,,ENST00000475912,;PRKD3,downstream_gene_variant,,ENST00000464552,;	uc002rqd.2	c.638C>G	1193/5900	5	3			c.638C>G						2	SNP	c.(637-639)TCA>TGA	4	4			lung(2)|ovary(1)|central_nervous_system(1)	4	Broad	protein kinase D3			37516578		0.413	ENSG00000115825	12312	g.chr2:37516578G>C	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	Melanoma(80;621 1355 8613 11814 51767)		569	Melanoma(80;621 1355 8613 11814 51767)		569	107.476288	KEEP	28	11	-1	39	24	28	11	-1	109.021766	39	24	0.359551	1	0	0	0	0	0	1	0	0	--	--		0	C			PRKD3_uc002rqf.1_Nonsense_Mutation_p.S213*	10	GBM-06-0122-TP	p.S213*	G	AGATACATTTGACAGACGTCT	NM_005813	NP_005804	37516578	O94806	KPCD3_HUMAN	0			4	1193	-	C	C		all_hematologic(82;0.21)	Nonsense_Mutation	213						
PRKD3	0	broad.mit.edu	GRCh37	2	37501816	37501816	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-14-0786-01	TCGA-14-0786-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000234179.2:c.1399C>G	p.Arg467Gly	p.R467G	ENST00000234179	NM_005813.3	467	Cgc/Ggc	0			1			C	R/G	uc002rqd.2	protein_coding		CCDS1789.1			1399/2673									lung(2)|ovary(1)|central_nervous_system(1)	4	c.(1399-1401)CGC>GGC			PROSITE_profiles:PS50003,hmmpanther:PTHR22968:SF11,hmmpanther:PTHR22968,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,PIRSF_domain:PIRSF000552,Superfamily_domains:SSF50729	protein kinase D3				ENSP00000234179		18-Oct									COSM3407852,COSM3407853	18-Oct	.		ENST00000234179	Transcript			activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	ENSG00000115825	g.chr2:37501816G>C	9408			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=KPCD3_HUMAN&rb=417&re=532&var=R467G	getma.org/pdb.php?prot=KPCD3_HUMAN&from=417&to=532&var=R467G	getma.org/?cm=var&var=hg19,2,37501816,G,C&fts=all	R467G	--	--	1																																		PRKD3_uc002rqe.1_Missense_Mutation_p.R67G|PRKD3_uc002rqf.1_Missense_Mutation_p.R467G	1,1			benign(0.005)	p.R467G	NM_005813	NP_005804		tolerated(0.23)	1,1	KPCD3_HUMAN	PRKD3	HGNC	O94806	KPCD3_HUMAN			C9JKP8_HUMAN		10	1954	-		all_hematologic(82;0.21)	UPI0000035B4D	467			PH.		SNV	PRKD3,missense_variant,p.Arg467Gly,ENST00000379066,;PRKD3,missense_variant,p.Arg467Gly,ENST00000234179,NM_005813.3;PRKD3,upstream_gene_variant,,ENST00000452104,;PRKD3,upstream_gene_variant,,ENST00000443977,;PRKD3,non_coding_transcript_exon_variant,,ENST00000494667,;PRKD3,non_coding_transcript_exon_variant,,ENST00000469275,;	uc002rqd.2	c.1399C>G	1954/5900	4	4			c.1399C>G						2	SNP	c.(1399-1401)CGC>GGC	34	34			lung(2)|ovary(1)|central_nervous_system(1)	4	Broad	protein kinase D3			37501816		0.318	ENSG00000115825	12312	g.chr2:37501816G>C	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	Melanoma(80;621 1355 8613 11814 51767)	p.R467C(BL70-Tumor)	569	Melanoma(80;621 1355 8613 11814 51767)	p.R467C(BL70-Tumor)	569	127.013949	KEEP	29	17	-1	25	32	29	17	-1	127.073941	25	32	0.472527	1	0	0	0	0	1	0	0	0	--	--		0	C			PRKD3_uc002rqe.1_Missense_Mutation_p.R67G|PRKD3_uc002rqf.1_Missense_Mutation_p.R467G	134	GBM-14-0786-TP	p.R467G	G	GAAGATATGCGGAGAATTTCT	NM_005813	NP_005804	37501816	O94806	KPCD3_HUMAN	0			10	1954	-	C	C		all_hematologic(82;0.21)	Missense_Mutation	467			PH.			
PRKDC	0	broad.mit.edu	GRCh37	8	48772255	48772255	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-16-0846-01	TCGA-16-0846-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314191.2:c.6121C>T	p.Gln2041Ter	p.Q2041*	ENST00000314191	NM_006904.6	2041	Caa/Taa	0			1			A	Q/*	uc003xqi.2	protein_coding	YES				6121/12384									lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34	c.(6124-6126)CAA>TAA		NHEJ	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54,Pfam_domain:PF08163	protein kinase, DNA-activated, catalytic				ENSP00000313420		47/87									COSM3413040,COSM3413039	47/87	.		ENST00000314191	Transcript	1		cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	ENSG00000253729	g.chr8:48772255G>A	9413			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,8,48772255,G,A&fts=all	Q2042*	--	--	1																																		PRKDC_uc003xqj.2_Nonsense_Mutation_p.Q2042*|PRKDC_uc011ldh.1_Intron	1,1	1			p.Q2042*	NM_006904	NP_008835			1,1	PRKDC_HUMAN	PRKDC	HGNC	P78527	PRKDC_HUMAN			F5GX40_HUMAN		47	6181	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	UPI000045790C	2042					SNV	PRKDC,stop_gained,p.Gln2041Ter,ENST00000314191,NM_006904.6;PRKDC,stop_gained,p.Gln2041Ter,ENST00000338368,NM_001081640.1;PRKDC,non_coding_transcript_exon_variant,,ENST00000523565,;PRKDC,non_coding_transcript_exon_variant,,ENST00000518216,;PRKDC,downstream_gene_variant,,ENST00000546304,;	uc003xqi.2	c.6124C>T	6178/13506	5	2			c.6124C>T						8	SNP	c.(6124-6126)CAA>TAA	46	46			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34	Broad	protein kinase, DNA-activated, catalytic	NHEJ		48772255		0.423	ENSG00000253729	12313	g.chr8:48772255G>A	cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	Esophageal Squamous(79;1091 1253 12329 31680 40677)		1566	Esophageal Squamous(79;1091 1253 12329 31680 40677)		1566	77.40057	KEEP	23	10	-1	59	46	23	10	-1	85.618955	59	46	0.242647	1	0	0	0	0	0	1	0	0	--	--		0	A			PRKDC_uc003xqj.2_Nonsense_Mutation_p.Q2042*|PRKDC_uc011ldh.1_Intron	155	GBM-16-0846-TP	p.Q2042*	G	AAATCAAATTGACTCATTTCC	NM_006904	NP_008835	48772255	P78527	PRKDC_HUMAN	0			47	6181	-	A	A		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	Nonsense_Mutation	2042						
PRKDC	0	broad.mit.edu	GRCh37	8	48869810	48869810	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01	TCGA-28-2509-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314191.2:c.245G>A	p.Arg82Lys	p.R82K	ENST00000314191	NM_006904.6	82	aGa/aAa	0			1			T	R/K	uc003xqi.2	protein_coding	YES				245/12384									lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34	c.(244-246)AGA>AAA		NHEJ	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54,Superfamily_domains:SSF48371	protein kinase, DNA-activated, catalytic				ENSP00000313420		Mar-87									COSM3413044,COSM3413043	Mar-87	.		ENST00000314191	Transcript	1		cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	ENSG00000253729	g.chr8:48869810C>T	9413			MODERATE								--	--	1																																		PRKDC_uc003xqj.2_Missense_Mutation_p.R82K|PRKDC_uc011ldh.1_Missense_Mutation_p.R82K	1,1	1		possibly_damaging(0.623)	p.R82K	NM_006904	NP_008835			1,1	PRKDC_HUMAN	PRKDC	HGNC	P78527	PRKDC_HUMAN			F5GX40_HUMAN		3	302	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	UPI000045790C	82					SNV	PRKDC,missense_variant,p.Arg82Lys,ENST00000314191,NM_006904.6;PRKDC,missense_variant,p.Arg82Lys,ENST00000338368,NM_001081640.1;PRKDC,5_prime_UTR_variant,,ENST00000540819,;MCM4,upstream_gene_variant,,ENST00000262105,NM_005914.3;MCM4,upstream_gene_variant,,ENST00000523944,NM_182746.2;MCM4,upstream_gene_variant,,ENST00000519170,;MCM4,upstream_gene_variant,,ENST00000518221,;PRKDC,non_coding_transcript_exon_variant,,ENST00000523565,;PRKDC,non_coding_transcript_exon_variant,,ENST00000518216,;MCM4,upstream_gene_variant,,ENST00000519138,;MCM4,upstream_gene_variant,,ENST00000520934,;MCM4,upstream_gene_variant,,ENST00000524086,;MCM4,upstream_gene_variant,,ENST00000520994,;	uc003xqi.2	c.245G>A	302/13506	2	2			c.245G>A						8	SNP	c.(244-246)AGA>AAA	32	32			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34	Broad	protein kinase, DNA-activated, catalytic	NHEJ		48869810		0.318	ENSG00000253729	12313	g.chr8:48869810C>T	cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	Esophageal Squamous(79;1091 1253 12329 31680 40677)		1566	Esophageal Squamous(79;1091 1253 12329 31680 40677)		1566	5.407816	KEEP	3	1	-1	9	12	3	1	-1	8.464043	9	12	0.130435	1	0	0	0	0	1	0	0	0	--	--		0	T			PRKDC_uc003xqj.2_Missense_Mutation_p.R82K|PRKDC_uc011ldh.1_Missense_Mutation_p.R82K	211	GBM-28-2509-TP	p.R82K	C	GATTTCTTCTCTACATTCACG	NM_006904	NP_008835	48869810	P78527	PRKDC_HUMAN	0			3	302	-	T	T		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	Missense_Mutation	82						
PRKDC	0	broad.mit.edu	GRCh37	8	48746799	48746799	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-32-1977-01	TCGA-32-1977-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314191.2:c.8107delA	p.Arg2703GlyfsTer13	p.R2703Gfs*13	ENST00000314191	NM_006904.6	2703	Agg/gg	0			1			-	R/X	uc003xqi.2	protein_coding	YES				8107/12384									lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34	c.(8110-8112)AGGfs		NHEJ	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54	protein kinase, DNA-activated, catalytic				ENSP00000313420		60/87									COSM1263101,COSM1263100	60/87	.		ENST00000314191	Transcript	1		cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	ENSG00000253729	g.chr8:48746799delT	9413			HIGH								--	--	1																																		PRKDC_uc003xqj.2_Frame_Shift_Del_p.R2704fs|PRKDC_uc011ldh.1_Intron	1,1	1			p.R2704fs	NM_006904	NP_008835			1,1	PRKDC_HUMAN	PRKDC	HGNC	P78527	PRKDC_HUMAN			F5GX40_HUMAN		60	8167	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	UPI000045790C	2704			KIP-binding.		deletion	PRKDC,frameshift_variant,p.Arg2703GlyfsTer13,ENST00000314191,NM_006904.6;PRKDC,frameshift_variant,p.Arg2703GlyfsTer13,ENST00000338368,NM_001081640.1;PRKDC,non_coding_transcript_exon_variant,,ENST00000523565,;PRKDC,non_coding_transcript_exon_variant,,ENST00000518216,;	uc003xqi.2	c.8110delA	8164/13506	5	5			c.8110delA						8	DEL	c.(8110-8112)AGGfs	17	17			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34	Broad	protein kinase, DNA-activated, catalytic	NHEJ		48746799		0.498	ENSG00000253729	12313	g.chr8:48746799delT	cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	Esophageal Squamous(79;1091 1253 12329 31680 40677)		1566	Esophageal Squamous(79;1091 1253 12329 31680 40677)		1566														0.01	1	1	0	1	0	0	0	0	0	--	--		0	-			PRKDC_uc003xqj.2_Frame_Shift_Del_p.R2704fs|PRKDC_uc011ldh.1_Intron	229	GBM-32-1977-TP	p.R2704fs	T	AGGCCCAGCCTTTTTTTCCCA	NM_006904	NP_008835	48746799	P78527	PRKDC_HUMAN	0			60	8167	-	-	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	Frame_Shift_Del	2704			KIP-binding.			
PRKDC	0	broad.mit.edu	GRCh37	8	48805878	48805878	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314191.2:c.3668C>T	p.Thr1223Ile	p.T1223I	ENST00000314191	NM_006904.6	1223	aCc/aTc	0			1			A	T/I	uc003xqi.2	protein_coding	YES				3668/12384									lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34	c.(3667-3669)ACC>ATC		NHEJ	hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54,Superfamily_domains:SSF48371	protein kinase, DNA-activated, catalytic				ENSP00000313420		31/87									COSM3413042,COSM3413041	31/87	.		ENST00000314191	Transcript	1		cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	ENSG00000253729	g.chr8:48805878G>A	9413			MODERATE								--	--	1																																		PRKDC_uc003xqj.2_Missense_Mutation_p.T1223I|PRKDC_uc011ldh.1_Intron	1,1	1		benign(0.001)	p.T1223I	NM_006904	NP_008835			1,1	PRKDC_HUMAN	PRKDC	HGNC	P78527	PRKDC_HUMAN			F5GX40_HUMAN		31	3725	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	UPI000045790C	1223					SNV	PRKDC,missense_variant,p.Thr1223Ile,ENST00000314191,NM_006904.6;PRKDC,missense_variant,p.Thr1223Ile,ENST00000338368,NM_001081640.1;AC103686.1,downstream_gene_variant,,ENST00000390136,;PRKDC,non_coding_transcript_exon_variant,,ENST00000523565,;PRKDC,non_coding_transcript_exon_variant,,ENST00000518216,;	uc003xqi.2	c.3668C>T	3725/13506	2	2			c.3668C>T						8	SNP	c.(3667-3669)ACC>ATC	26	26			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34	Broad	protein kinase, DNA-activated, catalytic	NHEJ		48805878		0.522	ENSG00000253729	12313	g.chr8:48805878G>A	cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	Esophageal Squamous(79;1091 1253 12329 31680 40677)		1566	Esophageal Squamous(79;1091 1253 12329 31680 40677)		1566	17.813819	KEEP	2	5	-1	11	12	2	5	-1	18.747791	11	12	0.291667	1	0	0	0	0	1	0	0	0	--	--		0	A			PRKDC_uc003xqj.2_Missense_Mutation_p.T1223I|PRKDC_uc011ldh.1_Intron	230	GBM-32-1979-TP	p.T1223I	G	CCCCTCAAAGGTGTTGATGAG	NM_006904	NP_008835	48805878	P78527	PRKDC_HUMAN	0			31	3725	-	A	A		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	Missense_Mutation	1223						
PRKG2	0	broad.mit.edu	GRCh37	4	82056416	82056416	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5139-01	TCGA-26-5139-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264399.1:c.1669G>A	p.Val557Ile	p.V557I	ENST00000264399	NM_006259.1	557	Gtt/Att	0			1			T	V/I	uc003hmh.2	protein_coding		CCDS3589.1			1669/2289									breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7	c.(1669-1671)GTT>ATT			Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000559,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR24353:SF24,hmmpanther:PTHR24353,PROSITE_profiles:PS50011	protein kinase, cGMP-dependent, type II				ENSP00000264399		13/18	4.12E-05		0.000259			3.00E-05			rs745754260,COSM2157207,COSM2157208	13/18	.		ENST00000264399	Transcript			platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	ENSG00000138669	g.chr4:82056416C>T	9416			MODERATE		-0.075	neutral	getma.org/?cm=msa&ty=f&p=KGP2_HUMAN&rb=453&re=711&var=V557I	getma.org/pdb.php?prot=KGP2_HUMAN&from=453&to=711&var=V557I	getma.org/?cm=var&var=hg19,4,82056416,C,T&fts=all	V557I	--	--	1																																		PRKG2_uc011ccf.1_Missense_Mutation_p.V137I|PRKG2_uc011ccg.1_Missense_Mutation_p.V137I|PRKG2_uc011cch.1_Missense_Mutation_p.V528I	0,1,1			benign(0.061)	p.V557I	NM_006259	NP_006250		tolerated(0.36)	0,1,1	KGP2_HUMAN	PRKG2	HGNC	Q13237	KGP2_HUMAN			B7ZA25_HUMAN		13	1683	-			UPI000012DDC6	557			Protein kinase.		SNV	PRKG2,missense_variant,p.Val557Ile,ENST00000395578,;PRKG2,missense_variant,p.Val557Ile,ENST00000264399,NM_006259.1;PRKG2,missense_variant,p.Val528Ile,ENST00000418486,NM_001282485.1;PRKG2,missense_variant,p.Val137Ile,ENST00000545647,;PRKG2,non_coding_transcript_exon_variant,,ENST00000509169,;PRKG2,non_coding_transcript_exon_variant,,ENST00000509474,;	uc003hmh.2	c.1669G>A	1683/3328	2	2			c.1669G>A						4	SNP	c.(1669-1671)GTT>ATT	43	43			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7	Broad	protein kinase, cGMP-dependent, type II			82056416		0.413	ENSG00000138669	12315	g.chr4:82056416C>T	platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity		p.V557I(SNU466-Tumor)	728		p.V557I(SNU466-Tumor)	728	152.979886	KEEP	37	38	-1	68	68	37	38	-1	156.339055	68	68	0.359375	1	0	0	0	0	1	0	0	0	--	--		0	T			PRKG2_uc011ccf.1_Missense_Mutation_p.V137I|PRKG2_uc011ccg.1_Missense_Mutation_p.V137I|PRKG2_uc011cch.1_Missense_Mutation_p.V528I	186	GBM-26-5139-TP	p.V557I	C	ACACAAGCAACGCAGAATTTG	NM_006259	NP_006250	82056416	Q13237	KGP2_HUMAN	0			13	1683	-	T	T			Missense_Mutation	557			Protein kinase.			
PRKG2	0	broad.mit.edu	GRCh37	4	82125748	82125748	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-28-6450-01	TCGA-28-6450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264399.1:c.454delG	p.Asp152ThrfsTer18	p.D152Tfs*18	ENST00000264399	NM_006259.1	152	Gac/ac	0			1			-	D/X	uc003hmh.2	protein_coding		CCDS3589.1			454/2289									breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7	c.(454-456)GACfs			Superfamily_domains:SSF51206,PIRSF_domain:PIRSF000559,hmmpanther:PTHR24353:SF24,hmmpanther:PTHR24353	protein kinase, cGMP-dependent, type II				ENSP00000264399		18-Jan										18-Jan	.		ENST00000264399	Transcript			platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	ENSG00000138669	g.chr4:82125748delC	9416			HIGH								--	--	1																																		PRKG2_uc011cch.1_Frame_Shift_Del_p.D152fs					p.D152fs	NM_006259	NP_006250				KGP2_HUMAN	PRKG2	HGNC	Q13237	KGP2_HUMAN			B7ZA25_HUMAN		1	468	-			UPI000012DDC6	152					deletion	PRKG2,frameshift_variant,p.Asp152ThrfsTer18,ENST00000395578,;PRKG2,frameshift_variant,p.Asp152ThrfsTer18,ENST00000264399,NM_006259.1;PRKG2,frameshift_variant,p.Asp152ThrfsTer18,ENST00000418486,NM_001282485.1;	uc003hmh.2	c.454delG	468/3328	5	5			c.454delG						4	DEL	c.(454-456)GACfs	51	51			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7	Broad	protein kinase, cGMP-dependent, type II			82125748		0.428	ENSG00000138669	12315	g.chr4:82125748delC	platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			728			728														0.35	1	1	0	1	0	0	0	0	0	--	--		0	-			PRKG2_uc011cch.1_Frame_Shift_Del_p.D152fs	227	GBM-28-6450-TP	p.D152fs	C	TACCTGGAGTCTTTTCTGACT	NM_006259	NP_006250	82125748	Q13237	KGP2_HUMAN	0			1	468	-	-	-			Frame_Shift_Del	152						
PRKG2	0	broad.mit.edu	GRCh37	4	82074799	82074799	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-1982-01	TCGA-32-1982-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264399.1:c.989A>G	p.Lys330Arg	p.K330R	ENST00000264399	NM_006259.1	330	aAg/aGg	0			1			C	K/R	uc003hmh.2	protein_coding		CCDS3589.1			989/2289									breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7	c.(988-990)AAG>AGG			Prints_domain:PR00104,Superfamily_domains:SSF51206,PIRSF_domain:PIRSF000559,SMART_domains:SM00100,Pfam_domain:PF00027,Gene3D:2.60.120.10,hmmpanther:PTHR24353:SF24,hmmpanther:PTHR24353,PROSITE_profiles:PS50042	protein kinase, cGMP-dependent, type II				ENSP00000264399		18-Jun									COSM3409569,COSM3409570	18-Jun	.		ENST00000264399	Transcript			platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	ENSG00000138669	g.chr4:82074799T>C	9416			MODERATE		0.9	low	getma.org/?cm=msa&ty=f&p=KGP2_HUMAN&rb=304&re=396&var=K330R	getma.org/pdb.php?prot=KGP2_HUMAN&from=304&to=396&var=K330R	getma.org/?cm=var&var=hg19,4,82074799,T,C&fts=all	K330R	--	--	1																																		PRKG2_uc011ccf.1_5'UTR|PRKG2_uc011ccg.1_5'UTR|PRKG2_uc011cch.1_Missense_Mutation_p.K330R	1,1			possibly_damaging(0.486)	p.K330R	NM_006259	NP_006250		tolerated(0.09)	1,1	KGP2_HUMAN	PRKG2	HGNC	Q13237	KGP2_HUMAN			B7ZA25_HUMAN		6	1003	-			UPI000012DDC6	330			cGMP 2.		SNV	PRKG2,missense_variant,p.Lys330Arg,ENST00000395578,;PRKG2,missense_variant,p.Lys330Arg,ENST00000264399,NM_006259.1;PRKG2,missense_variant,p.Lys330Arg,ENST00000418486,NM_001282485.1;PRKG2,splice_region_variant,,ENST00000545647,;PRKG2,splice_region_variant,,ENST00000509169,;PRKG2,splice_region_variant,,ENST00000509474,;PRKG2,splice_region_variant,,ENST00000456882,;	uc003hmh.2	c.989A>G	1003/3328	4	4			c.989A>G						4	SNP	c.(988-990)AAG>AGG	48	48			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7	Broad	protein kinase, cGMP-dependent, type II			82074799		0.333	ENSG00000138669	12315	g.chr4:82074799T>C	platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			728			728	122.241985	KEEP	20	19	-1	36	40	20	19	-1	124.847218	36	40	0.336364	1	0	0	0	0	1	0	0	0	--	--		0	C			PRKG2_uc011ccf.1_5'UTR|PRKG2_uc011ccg.1_5'UTR|PRKG2_uc011cch.1_Missense_Mutation_p.K330R	232	GBM-32-1982-TP	p.K330R	T	AATAGTTACCTTTCCTTTTGC	NM_006259	NP_006250	82074799	Q13237	KGP2_HUMAN	0			6	1003	-	C	C			Missense_Mutation	330			cGMP 2.			
PRKG2	0	broad.mit.edu	GRCh37	4	82126062	82126062	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4926-01	TCGA-76-4926-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264399.1:c.140G>A	p.Arg47Gln	p.R47Q	ENST00000264399	NM_006259.1	47	cGg/cAg	0	T:0		1			T	R/Q	uc003hmh.2	protein_coding		CCDS3589.1			140/2289									breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7	c.(139-141)CGG>CAG			Coiled-coils_(Ncoils):Coil,PIRSF_domain:PIRSF000559,hmmpanther:PTHR24353:SF24,hmmpanther:PTHR24353	protein kinase, cGMP-dependent, type II			T:0.0001	ENSP00000264399		18-Jan	3.29E-05	9.61E-05		0.000116		3.00E-05			rs199612321,COSM3409571,COSM3409572	18-Jan	.		ENST00000264399	Transcript			platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	ENSG00000138669	g.chr4:82126062C>T	9416			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=KGP2_HUMAN&rb=1&re=89&var=R47Q	NA	getma.org/?cm=var&var=hg19,4,82126062,C,T&fts=all	R47Q	--	--	1																																		PRKG2_uc011cch.1_Missense_Mutation_p.R47Q	0,1,1			benign(0.005)	p.R47Q	NM_006259	NP_006250		tolerated(0.41)	0,1,1	KGP2_HUMAN	PRKG2	HGNC	Q13237	KGP2_HUMAN			B7ZA25_HUMAN		1	154	-			UPI000012DDC6	47					SNV	PRKG2,missense_variant,p.Arg47Gln,ENST00000395578,;PRKG2,missense_variant,p.Arg47Gln,ENST00000264399,NM_006259.1;PRKG2,missense_variant,p.Arg47Gln,ENST00000418486,NM_001282485.1;	uc003hmh.2	c.140G>A	154/3328	1	1			c.140G>A						4	SNP	c.(139-141)CGG>CAG	16	16			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7	Broad	protein kinase, cGMP-dependent, type II			82126062		0.557	ENSG00000138669	12315	g.chr4:82126062C>T	platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity		p.R47L(NCIH1793-Tumor)	728		p.R47L(NCIH1793-Tumor)	728	156.434051	KEEP	33	41	-1	71	73	33	41	-1	160.618449	71	73	0.337079	1	0	0	0	0	1	0	0	0	--	--		0	T			PRKG2_uc011cch.1_Missense_Mutation_p.R47Q	266	GBM-76-4926-TP	p.R47Q	C	ATGGTACTCCCGCTCCTGGAT	NM_006259	NP_006250	82126062	Q13237	KGP2_HUMAN	0			1	154	-	T	T			Missense_Mutation	47						
PRKRA	8575		GRCh37	2	179296970	179296970	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0151-01	TCGA-06-0151-01																				ENST00000325748.4:c.796G>A	p.Ala266Thr	p.A266T	ENST00000325748	NM_003690.4	266	Gcc/Acc	0																																																																																																																																																																																																																																												
PRKX	0	broad.mit.edu	GRCh37	X	3573336	3573336	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-26-5136-01	TCGA-26-5136-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262848.5:c.453C>G	p.Phe151Leu	p.F151L	ENST00000262848	NM_005044.4	151	ttC/ttG	0			1			C	F/L	uc010nde.2	protein_coding	YES	CCDS14125.1			453/1077									skin(2)|lung(1)	3	c.(451-453)TTC>TTG			PROSITE_profiles:PS50011,hmmpanther:PTHR24353,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	protein kinase, X-linked				ENSP00000262848		9-Mar									COSM2157111	9-Mar	.		ENST00000262848	Transcript					ATP binding|cAMP-dependent protein kinase activity	ENSG00000183943	g.chrX:3573336G>C	9441			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=PRKX_HUMAN&rb=49&re=303&var=F151L	getma.org/pdb.php?prot=PRKX_HUMAN&from=49&to=303&var=F151L	getma.org/?cm=var&var=hg19,X,3573336,G,C&fts=all	F151L	--	--	1																																			1	1		probably_damaging(1)	p.F151L	NM_005044	NP_005035		deleterious(0.01)	1	PRKX_HUMAN	PRKX	HGNC	P51817	PRKX_HUMAN					3	820	-		all_lung(23;0.000396)|Lung NSC(23;0.00123)	UPI000000D998	151			Protein kinase.		SNV	PRKX,missense_variant,p.Phe151Leu,ENST00000262848,NM_005044.4;PRKX-AS1,upstream_gene_variant,,ENST00000414074,;PRKX,non_coding_transcript_exon_variant,,ENST00000425240,;	uc010nde.2	c.453C>G	808/6031	3	3			c.453C>G						23	SNP	c.(451-453)TTC>TTG	2	2			skin(2)|lung(1)	3	Broad	protein kinase, X-linked			3573336		0.587	ENSG00000183943	12319	g.chrX:3573336G>C			ATP binding|cAMP-dependent protein kinase activity			166			166	223.322344	KEEP	37	36	-1	61	68	37	36	-1	226.594975	61	68	0.357143	1	0	0	0	0	1	0	0	0	--	--		0	C				185	GBM-26-5136-TP	p.F151L	G	CTGCAGAGTAGAAGAGCCCCG	NM_005044	NP_005035	3573336	P51817	PRKX_HUMAN	0			3	820	-	C	C		all_lung(23;0.000396)|Lung NSC(23;0.00123)	Missense_Mutation	151			Protein kinase.			
PRLHR	0	broad.mit.edu	GRCh37	10	120354176	120354176	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01	TCGA-41-4097-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000239032.2:c.581C>T	p.Ala194Val	p.A194V	ENST00000239032	NM_004248.2	194	gCc/gTc	0			1			A	A/V	uc001ldp.1	protein_coding	YES	CCDS7606.1			581/1113										0	c.(580-582)GCC>GTC			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF194,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	G protein-coupled receptor 10				ENSP00000239032		2-Feb									COSM3396942	2-Feb	.		ENST00000239032	Transcript			female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity	ENSG00000119973	g.chr10:120354176G>A	4464			MODERATE		0.935	low	getma.org/?cm=msa&ty=f&p=PRLHR_HUMAN&rb=77&re=335&var=A194V	getma.org/pdb.php?prot=PRLHR_HUMAN&from=77&to=335&var=A194V	getma.org/?cm=var&var=hg19,10,120354176,G,A&fts=all	A194V	--	--	1																																			1	1		benign(0.206)	p.A194V	NM_004248	NP_004239		deleterious(0.01)	1	PRLHR_HUMAN	PRLHR	HGNC	P49683	PRLHR_HUMAN		all cancers(201;0.0166)			2	720	-		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)	UPI000013CA6F	194	A -> P (in Ref. 1; AAC50504).		Helical; Name=4; (Potential).		SNV	PRLHR,missense_variant,p.Ala194Val,ENST00000239032,NM_004248.2;PRLHR,missense_variant,p.Ala194Val,ENST00000369169,;	uc001ldp.1	c.581C>T	720/1980	1	1			c.581C>T						10	SNP	c.(580-582)GCC>GTC	56	56				0	Broad	G protein-coupled receptor 10			120354176		0.716	ENSG00000119973	12322	g.chr10:120354176G>A	female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity							6.446898	KEEP	2	0	-1	1	4	2	0	-1	6.735448	1	4	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	A				257	GBM-41-4097-TP	p.A194V	G	GTGCACGGCGGCGGGCAGCGC	NM_004248	NP_004239	120354176	P49683	PRLHR_HUMAN	0		all cancers(201;0.0166)	2	720	-	A	A		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)	Missense_Mutation	194	A -> P (in Ref. 1; AAC50504).		Helical; Name=4; (Potential).			
PRMT10	0	broad.mit.edu	GRCh37	4	148591889	148591889	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6388-01	TCGA-06-6388-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322396.6:c.749C>T	p.Ser250Phe	p.S250F	ENST00000322396	NM_138364.2	250	tCc/tTc	0			1			A	S/F	uc003ilc.2	protein_coding	YES	CCDS3771.1			749/2538									ovary(1)|central_nervous_system(1)	2	c.(748-750)TCC>TTC			PROSITE_profiles:PS51678,hmmpanther:PTHR11006,hmmpanther:PTHR11006:SF48,Gene3D:3.40.50.150,Superfamily_domains:SSF53335	protein arginine methyltransferase 10				ENSP00000314396		12-May									rs201783758,COSM3409080	12-May	.		ENST00000322396	Transcript				cytoplasm	binding|protein methyltransferase activity	ENSG00000164169	g.chr4:148591889G>A	25099			MODERATE		2.74	medium	getma.org/?cm=msa&ty=f&p=ANM10_HUMAN&rb=167&re=257&var=S250F	getma.org/pdb.php?prot=ANM10_HUMAN&from=167&to=257&var=S250F	getma.org/?cm=var&var=hg19,4,148591889,G,A&fts=all	S250F	--	--	1																																		PRMT10_uc003ild.2_Missense_Mutation_p.S137F	0,1	1		probably_damaging(0.999)	p.S250F	NM_138364	NP_612373		deleterious(0)	0,1	ANM10_HUMAN	PRMT10	HGNC	Q6P2P2	ANM10_HUMAN			B3KU92_HUMAN		5	891	-			UPI000004971D	250					SNV	PRMT10,missense_variant,p.Ser250Phe,ENST00000322396,NM_138364.2;PRMT10,missense_variant,p.Ser137Phe,ENST00000541232,;TMEM184C,intron_variant,,ENST00000508208,;PRMT10,3_prime_UTR_variant,,ENST00000514886,;	uc003ilc.2	c.749C>T	992/3528	2	2			c.749C>T						4	SNP	c.(748-750)TCC>TTC	47	47			ovary(1)|central_nervous_system(1)	2	Broad	protein arginine methyltransferase 10			148591889		0.328	ENSG00000164169	12328	g.chr4:148591889G>A		cytoplasm	binding|protein methyltransferase activity							55.98634	KEEP	10	13	-1	29	29	10	13	-1	59.230242	29	29	0.2875	1	0	0	0	0	1	0	0	0	--	--		0	A			PRMT10_uc003ild.2_Missense_Mutation_p.S137F	104	GBM-06-6388-TP	p.S250F	G	TACAACTAGGGACACTCTATA	NM_138364	NP_612373	148591889	Q6P2P2	ANM10_HUMAN	0			5	891	-	A	A			Missense_Mutation	250						
PRMT10	0	broad.mit.edu	GRCh37	4	148589774	148589774	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs147339843	byFrequency	TCGA-26-5134-01	TCGA-26-5134-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322396.6:c.869G>T	p.Cys290Phe	p.C290F	ENST00000322396	NM_138364.2	290	tGt/tTt	0			1			A	C/F	uc003ilc.2	protein_coding	YES	CCDS3771.1			869/2538									ovary(1)|central_nervous_system(1)	2	c.(868-870)TGT>TTT			PROSITE_profiles:PS51678,hmmpanther:PTHR11006,hmmpanther:PTHR11006:SF48,Superfamily_domains:SSF53335	protein arginine methyltransferase 10				ENSP00000314396		12-Jun									COSM2156980	12-Jun	.		ENST00000322396	Transcript				cytoplasm	binding|protein methyltransferase activity	ENSG00000164169	g.chr4:148589774C>A	25099			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=ANM10_HUMAN&rb=258&re=457&var=C290F	NA	getma.org/?cm=var&var=hg19,4,148589774,C,A&fts=all	C290F	--	--	1																																		PRMT10_uc003ild.2_Missense_Mutation_p.C177F	1	1		benign(0.001)	p.C290F	NM_138364	NP_612373		tolerated(0.71)	1	ANM10_HUMAN	PRMT10	HGNC	Q6P2P2	ANM10_HUMAN			B3KU92_HUMAN		6	1011	-			UPI000004971D	290					SNV	PRMT10,missense_variant,p.Cys290Phe,ENST00000322396,NM_138364.2;PRMT10,missense_variant,p.Cys177Phe,ENST00000541232,;TMEM184C,intron_variant,,ENST00000508208,;PRMT10,3_prime_UTR_variant,,ENST00000514886,;	uc003ilc.2	c.869G>T	1112/3528	2	2			c.869G>T						4	SNP	c.(868-870)TGT>TTT	46	46			ovary(1)|central_nervous_system(1)	2	Broad	protein arginine methyltransferase 10			148589774		0.299	ENSG00000164169	12328	g.chr4:148589774C>A		cytoplasm	binding|protein methyltransferase activity							104.596883	KEEP	23	15	0.394736842	25	35	23	15	0.394736842	106.044	25	35	0.368421	1	0	0	0	0	1	0	0	0	--	--		0	A			PRMT10_uc003ild.2_Missense_Mutation_p.C177F	183	GBM-26-5134-TP	p.C290F	C	ATACTTTTCACAATTAGCACT	NM_138364	NP_612373	148589774	Q6P2P2	ANM10_HUMAN	0			6	1011	-	A	A			Missense_Mutation	290						
PRMT3	0	broad.mit.edu	GRCh37	11	20448405	20448405	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0789-01	TCGA-14-0789-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331079.6:c.987G>A	p.Glu329=	p.E329=	ENST00000331079	NM_005788.3	329	gaG/gaA	0			1			A	E	uc001mqb.2	protein_coding	YES	CCDS7853.1			987/1596										0	c.(985-987)GAG>GAA			PROSITE_profiles:PS51678,hmmpanther:PTHR11006:SF45,hmmpanther:PTHR11006,Gene3D:3.40.50.150,Superfamily_domains:SSF53335	protein arginine methyltransferase 3 isoform 1				ENSP00000331879		16-Oct									COSM3397611	16-Oct	.		ENST00000331079	Transcript					zinc ion binding	ENSG00000185238	g.chr11:20448405G>A	30163			LOW								--	--	1																																		PRMT3_uc001mqc.2_Silent_p.E252E|PRMT3_uc010rdn.1_Silent_p.E267E	1	1			p.E329E	NM_005788	NP_005779			1	ANM3_HUMAN	PRMT3	HGNC	O60678	ANM3_HUMAN					10	1204	+			UPI0000198DED	329					SNV	PRMT3,synonymous_variant,p.=,ENST00000331079,NM_005788.3,NM_001145167.1;PRMT3,synonymous_variant,p.=,ENST00000437750,NM_001145166.1;PRMT3,3_prime_UTR_variant,,ENST00000330796,;PRMT3,non_coding_transcript_exon_variant,,ENST00000529592,;	uc001mqb.2	c.987G>A	1204/2653	2	2			c.987G>A						11	SNP	c.(985-987)GAG>GAA	46	46				0	Broad	protein arginine methyltransferase 3 isoform 1			20448405		0.254	ENSG00000185238	12330	g.chr11:20448405G>A			zinc ion binding							6.1332	KEEP	3	1	-1	11	4	3	1	-1	8.013894	11	4	0.166667	1	0	0	0	0	0	0	1	0	--	--		0	A			PRMT3_uc001mqc.2_Silent_p.E252E|PRMT3_uc010rdn.1_Silent_p.E267E	136	GBM-14-0789-TP	p.E329E	G	TCATATCTGAGTGGATGGTGA	NM_005788	NP_005779	20448405	O60678	ANM3_HUMAN	0			10	1204	+	A	A			Silent	329						
PROC	5624	broad.mit.edu	GRCh37	2	128177527	128177527	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2567-01	TCGA-06-2567-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000234071.3:c.9G>A	p.Gln3=	p.Q3=	ENST00000234071	NM_000312.3	3	caG/caA	0			1			A	Q	uc002tok.2	protein_coding	YES	CCDS2145.1			9/1386										0	c.(7-9)CAG>CAA			Cleavage_site_(Signalp):SignalP-noTM,PIRSF_domain:PIRSF001143	protein C	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)			ENSP00000234071		9-Feb									COSM3406843	9-Feb	.		ENST00000234071	Transcript	1		blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity	ENSG00000115718	g.chr2:128177527G>A	9451			LOW								--	--	1																																		PROC_uc002tol.2_Silent_p.Q24Q|PROC_uc010yzi.1_Silent_p.Q24Q|PROC_uc010yzj.1_5'UTR|PROC_uc010yzk.1_Silent_p.Q24Q|PROC_uc002tom.2_Silent_p.Q3Q	1	1			p.Q3Q	NM_000312	NP_000303			1	PROC_HUMAN	PROC	HGNC	P04070	PROC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0673)	Q8J004_HUMAN,Q8J003_HUMAN,Q6V7X9_HUMAN,E7EVH6_HUMAN,E7EU72_HUMAN,B4DPC8_HUMAN		2	82	+	Colorectal(110;0.1)		UPI0000001646	3					SNV	PROC,synonymous_variant,p.=,ENST00000453608,;PROC,synonymous_variant,p.=,ENST00000234071,NM_000312.3;PROC,synonymous_variant,p.=,ENST00000409048,;PROC,synonymous_variant,p.=,ENST00000422777,;PROC,synonymous_variant,p.=,ENST00000442644,;PROC,synonymous_variant,p.=,ENST00000427769,;PROC,synonymous_variant,p.=,ENST00000429925,;PROC,upstream_gene_variant,,ENST00000402125,;MIR4783,downstream_gene_variant,,ENST00000580343,;PROC,synonymous_variant,p.=,ENST00000431364,;PROC,synonymous_variant,p.=,ENST00000419985,;PROC,non_coding_transcript_exon_variant,,ENST00000474030,;PROC,upstream_gene_variant,,ENST00000464089,;	uc002tok.2	c.9G>A	96/1773	2	2			c.9G>A						2	SNP	c.(7-9)CAG>CAA	24	24				0	Broad	protein C		Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	128177527		0.652	ENSG00000115718	12337	g.chr2:128177527G>A	blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity							-8.221066	KEEP	0	4	-1	40	53	0	4	-1	6.614589	40	53	0.044776	1	0	0	0	0	0	0	1	0	--	--		0	A			PROC_uc002tol.2_Silent_p.Q24Q|PROC_uc010yzi.1_Silent_p.Q24Q|PROC_uc010yzj.1_5'UTR|PROC_uc010yzk.1_Silent_p.Q24Q|PROC_uc002tom.2_Silent_p.Q3Q	89	GBM-06-2567-TP	p.Q3Q	G	GAATGTGGCAGCTCACAAGCC	NM_000312	NP_000303	128177527	P04070	PROC_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.0673)	2	82	+	A	A	Colorectal(110;0.1)		Silent	3						
PRODH2	0	broad.mit.edu	GRCh37	19	36293096	36293096	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5952-01	TCGA-19-5952-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301175.3:c.1423C>T	p.Leu475=	p.L475=	ENST00000301175	NM_021232.1	475	Ctg/Ttg	0			1			A	L	uc002obx.1	protein_coding	YES	CCDS12478.1			1423/1611									ovary(2)	2	c.(1423-1425)CTG>TTG			hmmpanther:PTHR13914:SF0,hmmpanther:PTHR13914,Gene3D:3.20.20.220,Pfam_domain:PF01619,Superfamily_domains:SSF51730	kidney and liver proline oxidase 1				ENSP00000301175		11-Oct									COSM2156686	11-Oct	.		ENST00000301175	Transcript			glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	ENSG00000250799	g.chr19:36293096G>A	17325			LOW								--	--	1																																			1	1			p.L475L	NM_021232	NP_067055			1	PROD2_HUMAN	PRODH2	HGNC	Q9UF12	PROD2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)				10	1441	-	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		UPI000006EE59	475					SNV	PRODH2,synonymous_variant,p.=,ENST00000301175,NM_021232.1;PRODH2,synonymous_variant,p.=,ENST00000589835,;PRODH2,intron_variant,,ENST00000588266,;AC002398.5,upstream_gene_variant,,ENST00000433059,;AC002398.5,upstream_gene_variant,,ENST00000564335,;AC002398.5,upstream_gene_variant,,ENST00000567313,;PRODH2,non_coding_transcript_exon_variant,,ENST00000587695,;PRODH2,non_coding_transcript_exon_variant,,ENST00000587808,;	uc002obx.1	c.1423C>T	1441/1677	1	1			c.1423C>T						19	SNP	c.(1423-1425)CTG>TTG	59	59			ovary(2)	2	Broad	kidney and liver proline oxidase 1			36293096		0.577	ENSG00000250799	12341	g.chr19:36293096G>A	glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity							140.257763	KEEP	20	38	-1	52	100	20	38	-1	148.631799	52	100	0.275676	1	0	0	0	0	0	0	1	0	--	--		0	A				172	GBM-19-5952-TP	p.L475L	G	CACATACCCAGTGCTAGAGAG	NM_021232	NP_067055	36293096	Q9UF12	PROD2_HUMAN	0	LUSC - Lung squamous cell carcinoma(66;0.0515)		10	1441	-	A	A	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		Silent	475						
PRODH2	0	broad.mit.edu	GRCh37	19	36303168	36303168	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301175.3:c.606G>A	p.Ala202=	p.A202=	ENST00000301175	NM_021232.1	202	gcG/gcA	0			1			T	A	uc002obx.1	protein_coding	YES	CCDS12478.1			606/1611									ovary(2)	2	c.(604-606)GCG>GCA			hmmpanther:PTHR13914:SF0,hmmpanther:PTHR13914,Gene3D:3.20.20.220,Superfamily_domains:SSF51730	kidney and liver proline oxidase 1				ENSP00000301175		11-Apr									COSM3404144	11-Apr	.		ENST00000301175	Transcript			glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	ENSG00000250799	g.chr19:36303168C>T	17325			LOW								--	--	1																																			1	1			p.A202A	NM_021232	NP_067055			1	PROD2_HUMAN	PRODH2	HGNC	Q9UF12	PROD2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)				4	624	-	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		UPI000006EE59	202					SNV	PRODH2,synonymous_variant,p.=,ENST00000301175,NM_021232.1;PRODH2,non_coding_transcript_exon_variant,,ENST00000587695,;PRODH2,non_coding_transcript_exon_variant,,ENST00000591694,;	uc002obx.1	c.606G>A	624/1677	2	2			c.606G>A						19	SNP	c.(604-606)GCG>GCA	34	34			ovary(2)	2	Broad	kidney and liver proline oxidase 1			36303168		0.672	ENSG00000250799	12341	g.chr19:36303168C>T	glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity							108.268946	KEEP	32	28	-1	94	125	32	28	-1	128.824084	94	125	0.204724	1	0	0	0	0	0	0	1	0	--	--		0	T				249	GBM-32-5222-TP	p.A202A	C	CCTCATACCACGCCTCACTGC	NM_021232	NP_067055	36303168	Q9UF12	PROD2_HUMAN	0	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	624	-	T	T	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		Silent	202						
PRODH2	58510		GRCh37	19	36303630	36303630	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000301175.3:c.306C>T	p.Gly102=	p.G102=	ENST00000301175	NM_021232.1	102	ggC/ggT	0																																																																																																																																																																																																																																												
PROKR2	0	broad.mit.edu	GRCh37	20	5282952	5282952	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs139399061	byFrequency	TCGA-12-0615-01	TCGA-12-0615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217270.3:c.889G>A	p.Val297Ile	p.V297I	ENST00000217270	NM_144773.2	297	Gtt/Att	0	T:0		1			T	V/I	uc010zqw.1	protein_coding		CCDS13089.1			889/1155									ovary(3)|central_nervous_system(1)|pancreas(1)	5	c.(889-891)GTT>ATT			PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF189,hmmpanther:PTHR24242,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	prokineticin receptor 2			T:0.0012	ENSP00000217270		2-Feb	0.00056		0.000259			0.000824	0.0011	0.000545	rs139399061,COSM2153537	2-Feb	common_variant		ENST00000217270	Transcript	1			integral to membrane|plasma membrane	neuropeptide Y receptor activity	ENSG00000101292	g.chr20:5282952C>T	15836			MODERATE		0.96	low	getma.org/?cm=msa&ty=f&p=PKR2_HUMAN&rb=70&re=333&var=V297I	getma.org/pdb.php?prot=PKR2_HUMAN&from=70&to=333&var=V297I	getma.org/?cm=var&var=hg19,20,5282952,C,T&fts=all	V297I	--	--	1				HNSCC(71;0.22)																														PROKR2_uc010zqx.1_Missense_Mutation_p.V297I|PROKR2_uc010zqy.1_Missense_Mutation_p.V297I	0,1			benign(0.047)	p.V297I	NM_144773	NP_658986		tolerated(0.34)	0,1	PKR2_HUMAN	PROKR2	HGNC	Q8NFJ6	PKR2_HUMAN					2	889	-			UPI000003BCC6	297			Extracellular (Potential).		SNV	PROKR2,missense_variant,p.Val297Ile,ENST00000546004,;PROKR2,missense_variant,p.Val297Ile,ENST00000217270,NM_144773.2;	uc010zqw.1	c.889G>A	889/1155	2	2			c.889G>A						20	SNP	c.(889-891)GTT>ATT	45	45			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Broad	prokineticin receptor 2			5282952		0.562	ENSG00000101292	12345	g.chr20:5282952C>T		integral to membrane|plasma membrane	neuropeptide Y receptor activity							174.208651	KEEP	27	31	-1	29	54	27	31	-1	174.878616	29	54	0.423077	1	0	0	0	0	1	0	0	0	--	--	HNSCC(71;0.22)	0	T			PROKR2_uc010zqx.1_Missense_Mutation_p.V297I|PROKR2_uc010zqy.1_Missense_Mutation_p.V297I	117	GBM-12-0615-TP	p.V297I	C	AAGTCACGAACGATGGTGAAA	NM_144773	NP_658986	5282952	Q8NFJ6	PKR2_HUMAN	0			2	889	-	T	T			Missense_Mutation	297			Extracellular (Potential).			
PROKR2	0	broad.mit.edu	GRCh37	20	5283335	5283335	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01	TCGA-12-3652-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217270.3:c.506C>T	p.Thr169Met	p.T169M	ENST00000217270	NM_144773.2	169	aCg/aTg	0		A:0.0008	1	A:0.0014		A	T/M	uc010zqw.1	protein_coding		CCDS13089.1			506/1155									ovary(3)|central_nervous_system(1)|pancreas(1)	5	c.(505-507)ACG>ATG			PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF189,hmmpanther:PTHR24242,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	prokineticin receptor 2		A:0		ENSP00000217270	A:0	2-Feb	3.29E-05	0.000193	8.64E-05					6.06E-05	rs527771034,COSM2763774	2-Feb	.		ENST00000217270	Transcript	1	A:0.0004		integral to membrane|plasma membrane	neuropeptide Y receptor activity	ENSG00000101292	g.chr20:5283335G>A	15836			MODERATE		1.895	low	getma.org/?cm=msa&ty=f&p=PKR2_HUMAN&rb=70&re=333&var=T169M	getma.org/pdb.php?prot=PKR2_HUMAN&from=70&to=333&var=T169M	getma.org/?cm=var&var=hg19,20,5283335,G,A&fts=all	T169M	--	--	1				HNSCC(71;0.22)																														PROKR2_uc010zqx.1_Missense_Mutation_p.T169M|PROKR2_uc010zqy.1_Missense_Mutation_p.T169M	0,1			possibly_damaging(0.701)	p.T169M	NM_144773	NP_658986	A:0	tolerated(0.07)	0,1	PKR2_HUMAN	PROKR2	HGNC	Q8NFJ6	PKR2_HUMAN					2	506	-			UPI000003BCC6	169			Cytoplasmic (Potential).		SNV	PROKR2,missense_variant,p.Thr169Met,ENST00000546004,;PROKR2,missense_variant,p.Thr169Met,ENST00000217270,NM_144773.2;	uc010zqw.1	c.506C>T	506/1155	2	2			c.506C>T						20	SNP	c.(505-507)ACG>ATG	41	41			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Broad	prokineticin receptor 2			5283335		0.488	ENSG00000101292	12345	g.chr20:5283335G>A		integral to membrane|plasma membrane	neuropeptide Y receptor activity							218.261931	KEEP	44	53	-1	97	107	44	53	-1	227.916128	97	107	0.3	1	0	0	0	0	1	0	0	0	--	--	HNSCC(71;0.22)	0	A			PROKR2_uc010zqx.1_Missense_Mutation_p.T169M|PROKR2_uc010zqy.1_Missense_Mutation_p.T169M	127	GBM-12-3652-TP	p.T169M	G	GAAGGAGGCCGTTTGATAATT	NM_144773	NP_658986	5283335	Q8NFJ6	PKR2_HUMAN	0			2	506	-	A	A			Missense_Mutation	169			Cytoplasmic (Potential).			
PROKR2	0	broad.mit.edu	GRCh37	20	5282952	5282952	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs139399061	byFrequency	TCGA-19-2620-01	TCGA-19-2620-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217270.3:c.889G>A	p.Val297Ile	p.V297I	ENST00000217270	NM_144773.2	297	Gtt/Att	0	T:0		1			T	V/I	uc010zqw.1	protein_coding		CCDS13089.1			889/1155									ovary(3)|central_nervous_system(1)|pancreas(1)	5	c.(889-891)GTT>ATT			PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF189,hmmpanther:PTHR24242,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	prokineticin receptor 2			T:0.0012	ENSP00000217270		2-Feb	0.00056		0.000259			0.000824	0.0011	0.000545	rs139399061,COSM2153537	2-Feb	common_variant		ENST00000217270	Transcript	1			integral to membrane|plasma membrane	neuropeptide Y receptor activity	ENSG00000101292	g.chr20:5282952C>T	15836			MODERATE		0.96	low	getma.org/?cm=msa&ty=f&p=PKR2_HUMAN&rb=70&re=333&var=V297I	getma.org/pdb.php?prot=PKR2_HUMAN&from=70&to=333&var=V297I	getma.org/?cm=var&var=hg19,20,5282952,C,T&fts=all	V297I	--	--	1				HNSCC(71;0.22)																														PROKR2_uc010zqx.1_Missense_Mutation_p.V297I|PROKR2_uc010zqy.1_Missense_Mutation_p.V297I	0,1			benign(0.047)	p.V297I	NM_144773	NP_658986		tolerated(0.34)	0,1	PKR2_HUMAN	PROKR2	HGNC	Q8NFJ6	PKR2_HUMAN					2	889	-			UPI000003BCC6	297			Extracellular (Potential).		SNV	PROKR2,missense_variant,p.Val297Ile,ENST00000546004,;PROKR2,missense_variant,p.Val297Ile,ENST00000217270,NM_144773.2;	uc010zqw.1	c.889G>A	889/1155	2	2			c.889G>A						20	SNP	c.(889-891)GTT>ATT	45	45			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Broad	prokineticin receptor 2			5282952		0.562	ENSG00000101292	12345	g.chr20:5282952C>T		integral to membrane|plasma membrane	neuropeptide Y receptor activity							-14.318384	KEEP	2	3	-1	63	45	2	3	-1	10.238724	63	45	0.045045	1	0	0	0	0	1	0	0	0	--	--	HNSCC(71;0.22)	0	T			PROKR2_uc010zqx.1_Missense_Mutation_p.V297I|PROKR2_uc010zqy.1_Missense_Mutation_p.V297I	162	GBM-19-2620-TP	p.V297I	C	AAGTCACGAACGATGGTGAAA	NM_144773	NP_658986	5282952	Q8NFJ6	PKR2_HUMAN	0			2	889	-	T	T			Missense_Mutation	297			Extracellular (Potential).			
PROKR2	0	broad.mit.edu	GRCh37	20	5283318	5283318	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217270.3:c.523G>A	p.Ala175Thr	p.A175T	ENST00000217270	NM_144773.2	175	Gcc/Acc	0			1			T	A/T	uc010zqw.1	protein_coding		CCDS13089.1			523/1155									ovary(3)|central_nervous_system(1)|pancreas(1)	5	c.(523-525)GCC>ACC			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF189,hmmpanther:PTHR24242,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	prokineticin receptor 2				ENSP00000217270		2-Feb	1.65E-05		8.64E-05			1.50E-05			rs761425593,COSM1263144	2-Feb	.		ENST00000217270	Transcript	1			integral to membrane|plasma membrane	neuropeptide Y receptor activity	ENSG00000101292	g.chr20:5283318C>T	15836			MODERATE		0.22	neutral	getma.org/?cm=msa&ty=f&p=PKR2_HUMAN&rb=70&re=333&var=A175T	getma.org/pdb.php?prot=PKR2_HUMAN&from=70&to=333&var=A175T	getma.org/?cm=var&var=hg19,20,5283318,C,T&fts=all	A175T	--	--	1				HNSCC(71;0.22)																														PROKR2_uc010zqx.1_Missense_Mutation_p.A175T|PROKR2_uc010zqy.1_Missense_Mutation_p.A175T	0,1			benign(0.013)	p.A175T	NM_144773	NP_658986		tolerated(0.39)	0,1	PKR2_HUMAN	PROKR2	HGNC	Q8NFJ6	PKR2_HUMAN					2	523	-			UPI000003BCC6	175			Helical; Name=4; (Potential).		SNV	PROKR2,missense_variant,p.Ala175Thr,ENST00000546004,;PROKR2,missense_variant,p.Ala175Thr,ENST00000217270,NM_144773.2;	uc010zqw.1	c.523G>A	523/1155	1	1			c.523G>A						20	SNP	c.(523-525)GCC>ACC	5	5			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Broad	prokineticin receptor 2			5283318		0.493	ENSG00000101292	12345	g.chr20:5283318C>T		integral to membrane|plasma membrane	neuropeptide Y receptor activity							275.884699	KEEP	64	49	-1	122	96	64	49	-1	281.663359	122	96	0.349481	1	0	0	0	0	1	0	0	0	--	--	HNSCC(71;0.22)	0	T			PROKR2_uc010zqx.1_Missense_Mutation_p.A175T|PROKR2_uc010zqy.1_Missense_Mutation_p.A175T	218	GBM-28-5209-TP	p.A175T	C	CAGACCAAGGCGATCAGGAAG	NM_144773	NP_658986	5283318	Q8NFJ6	PKR2_HUMAN	0			2	523	-	T	T			Missense_Mutation	175			Helical; Name=4; (Potential).			
PROKR2	0	broad.mit.edu	GRCh37	20	5294853	5294853	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs146963803	by1000genomes	TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217270.3:c.163G>A	p.Val55Ile	p.V55I	ENST00000217270	NM_144773.2	55	Gtc/Atc	0	T:0.0005	T:0.0008	1	T:0		T	V/I	uc010zqw.1	protein_coding		CCDS13089.1			163/1155									ovary(3)|central_nervous_system(1)|pancreas(1)	5	c.(163-165)GTC>ATC			Transmembrane_helices:TMhelix,hmmpanther:PTHR24242:SF189,hmmpanther:PTHR24242,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	prokineticin receptor 2		T:0	T:0	ENSP00000217270	T:0	2-Jan	4.94E-05	0.000192				4.50E-05		6.06E-05	rs146963803,COSM1737360	2-Jan	.		ENST00000217270	Transcript	1	T:0.0002		integral to membrane|plasma membrane	neuropeptide Y receptor activity	ENSG00000101292	g.chr20:5294853C>T	15836			MODERATE		2.28	medium	getma.org/?cm=msa&ty=f&p=PKR2_HUMAN&rb=1&re=69&var=V55I	NA	getma.org/?cm=var&var=hg19,20,5294853,C,T&fts=all	V55I	--	--	1				HNSCC(71;0.22)																														PROKR2_uc010zqx.1_Missense_Mutation_p.V55I|PROKR2_uc010zqy.1_Missense_Mutation_p.V55I|uc002wly.1_5'Flank	0,1			benign(0.001)	p.V55I	NM_144773	NP_658986	T:0	tolerated(0.59)	0,1	PKR2_HUMAN	PROKR2	HGNC	Q8NFJ6	PKR2_HUMAN					1	163	-			UPI000003BCC6	55			Helical; Name=1; (Potential).		SNV	PROKR2,missense_variant,p.Val55Ile,ENST00000546004,;PROKR2,missense_variant,p.Val55Ile,ENST00000217270,NM_144773.2;	uc010zqw.1	c.163G>A	163/1155	2	2			c.163G>A						20	SNP	c.(163-165)GTC>ATC	42	42			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Broad	prokineticin receptor 2			5294853		0.517	ENSG00000101292	12345	g.chr20:5294853C>T		integral to membrane|plasma membrane	neuropeptide Y receptor activity							201.682525	KEEP	38	39	-1	57	60	38	39	-1	203.2762	57	60	0.398876	1	0	0	0	0	1	0	0	0	--	--	HNSCC(71;0.22)	0	T			PROKR2_uc010zqx.1_Missense_Mutation_p.V55I|PROKR2_uc010zqy.1_Missense_Mutation_p.V55I|uc002wly.1_5'Flank	218	GBM-28-5209-TP	p.V55I	C	ATGCCAATGACGATCTTGGCT	NM_144773	NP_658986	5294853	Q8NFJ6	PKR2_HUMAN	0			1	163	-	T	T			Missense_Mutation	55			Helical; Name=1; (Potential).			
PROKR2	0	broad.mit.edu	GRCh37	20	5283350	5283350	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217270.3:c.491G>A	p.Arg164Gln	p.R164Q	ENST00000217270	NM_144773.2	164	cGg/cAg	0			1			T	R/Q	uc010zqw.1	protein_coding		CCDS13089.1			491/1155									ovary(3)|central_nervous_system(1)|pancreas(1)	5	c.(490-492)CGG>CAG			PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF189,hmmpanther:PTHR24242,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321	prokineticin receptor 2				ENSP00000217270		2-Feb									COSM2157500	2-Feb	.		ENST00000217270	Transcript	1			integral to membrane|plasma membrane	neuropeptide Y receptor activity	ENSG00000101292	g.chr20:5283350C>T	15836			MODERATE		1.94	medium	getma.org/?cm=msa&ty=f&p=PKR2_HUMAN&rb=70&re=333&var=R164Q	getma.org/pdb.php?prot=PKR2_HUMAN&from=70&to=333&var=R164Q	getma.org/?cm=var&var=hg19,20,5283350,C,T&fts=all	R164Q	--	--	1				HNSCC(71;0.22)																														PROKR2_uc010zqx.1_Missense_Mutation_p.R164Q|PROKR2_uc010zqy.1_Missense_Mutation_p.R164Q	1			probably_damaging(0.969)	p.R164Q	NM_144773	NP_658986		deleterious(0)	1	PKR2_HUMAN	PROKR2	HGNC	Q8NFJ6	PKR2_HUMAN					2	491	-			UPI000003BCC6	164		R -> Q (in KAL3).	Cytoplasmic (Potential).		SNV	PROKR2,missense_variant,p.Arg164Gln,ENST00000546004,;PROKR2,missense_variant,p.Arg164Gln,ENST00000217270,NM_144773.2;	uc010zqw.1	c.491G>A	491/1155	2	2			c.491G>A						20	SNP	c.(490-492)CGG>CAG	41	41			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Broad	prokineticin receptor 2			5283350		0.493	ENSG00000101292	12345	g.chr20:5283350C>T		integral to membrane|plasma membrane	neuropeptide Y receptor activity							342.451185	KEEP	59	72	-1	152	155	59	72	-1	356.877812	152	155	0.301703	1	0	0	0	0	1	0	0	0	--	--	HNSCC(71;0.22)	0	T			PROKR2_uc010zqx.1_Missense_Mutation_p.R164Q|PROKR2_uc010zqy.1_Missense_Mutation_p.R164Q	265	GBM-76-4925-TP	p.R164Q	C	ATAATTCATCCGTGGTTTCAA	NM_144773	NP_658986	5283350	Q8NFJ6	PKR2_HUMAN	0			2	491	-	T	T			Missense_Mutation	164		R -> Q (in KAL3).	Cytoplasmic (Potential).			
PROL1	0	broad.mit.edu	GRCh37	4	71275177	71275177	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-6282-01	TCGA-76-6282-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399575.2:c.132G>T	p.Trp44Cys	p.W44C	ENST00000399575	NM_021225.4	44	tgG/tgT	0			1			T	W/C	uc003hfi.2	protein_coding	YES	CCDS43235.1			132/747									large_intestine(1)	1	c.(130-132)TGG>TGT			Pfam_domain:PF15621,hmmpanther:PTHR14179,hmmpanther:PTHR14179:SF8,Low_complexity_(Seg):seg	proline rich, lacrimal 1				ENSP00000382485		3-Mar	4.14E-05			0.00058					rs762225791,COSM3409452	3-Mar	common_variant		ENST00000399575	Transcript			regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	ENSG00000171199	g.chr4:71275177G>T	17279			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=PROL1_HUMAN&rb=1&re=200&var=W44C	NA	getma.org/?cm=var&var=hg19,4,71275177,G,T&fts=all	W44C	--	--	1																																			0,1	1		possibly_damaging(0.878)	p.W44C	NM_021225	NP_067048		deleterious_low_confidence(0)	0,1	PROL1_HUMAN	PROL1	HGNC	Q99935	PROL1_HUMAN					3	306	+		all_hematologic(202;0.196)	UPI000020BE52	44			Pro-rich.		SNV	PROL1,missense_variant,p.Trp44Cys,ENST00000399575,NM_021225.4;PROL1,non_coding_transcript_exon_variant,,ENST00000514338,;PROL1,non_coding_transcript_exon_variant,,ENST00000505023,;	uc003hfi.2	c.132G>T	306/1040	2	2			c.132G>T						4	SNP	c.(130-132)TGG>TGT	47	47			large_intestine(1)	1	Broad	proline rich, lacrimal 1			71275177		0.502	ENSG00000171199	12346	g.chr4:71275177G>T	regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity							75.631328	KEEP	11	23	0.323529412	50	53	11	23	0.323529412	83.442113	50	53	0.244275	1	0	0	0	0	1	0	0	0	--	--		0	T				278	GBM-76-6282-TP	p.W44C	G	GGCCAAGATGGGTTCCACCAA	NM_021225	NP_067048	71275177	Q99935	PROL1_HUMAN	0			3	306	+	T	T		all_hematologic(202;0.196)	Missense_Mutation	44			Pro-rich.			
PROM2	0	broad.mit.edu	GRCh37	2	95947041	95947041	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-2518-01	TCGA-27-2518-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317620.9:c.1479C>T	p.Phe493=	p.F493=	ENST00000317620	NM_001165978.1	493	ttC/ttT	0		T:0	1	T:0		T	F	uc002suh.1	protein_coding	YES	CCDS2012.1			1479/2505									ovary(1)	1	c.(1477-1479)TTC>TTT			Transmembrane_helices:TMhelix,Pfam_domain:PF05478,hmmpanther:PTHR22730:SF6,hmmpanther:PTHR22730	prominin 2 precursor		T:0		ENSP00000318270	T:0	24-Dec	0.000231					1.50E-05		0.00164	rs537874801,COSM2157277	24-Dec	common_variant		ENST00000317620	Transcript		T:0.0004		apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		ENSG00000155066	g.chr2:95947041C>T	20685			LOW								--	--	1																																		PROM2_uc002sui.2_Silent_p.F493F|PROM2_uc002suj.2_Silent_p.F147F|PROM2_uc002suk.2_Silent_p.F493F|PROM2_uc002sul.2_Silent_p.F19F|PROM2_uc002sum.2_RNA	0,1	1			p.F493F	NM_144707	NP_653308	T:0.002		0,1	PROM2_HUMAN	PROM2	HGNC	Q8N271	PROM2_HUMAN					12	1612	+			UPI0000071157	493			Helical; (Potential).		SNV	PROM2,synonymous_variant,p.=,ENST00000317620,NM_001165978.1;PROM2,synonymous_variant,p.=,ENST00000317668,NM_144707.2;PROM2,synonymous_variant,p.=,ENST00000542147,;PROM2,synonymous_variant,p.=,ENST00000403131,NM_001165977.1;PROM2,non_coding_transcript_exon_variant,,ENST00000497110,;PROM2,downstream_gene_variant,,ENST00000463580,;PROM2,3_prime_UTR_variant,,ENST00000431567,;PROM2,non_coding_transcript_exon_variant,,ENST00000487138,;PROM2,downstream_gene_variant,,ENST00000478295,;	uc002suh.1	c.1479C>T	1612/4728	1	1			c.1479C>T						2	SNP	c.(1477-1479)TTC>TTT	5	5			ovary(1)	1	Broad	prominin 2 precursor			95947041		0.642	ENSG00000155066	12348	g.chr2:95947041C>T		apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane								139.565047	KEEP	32	28	-1	54	74	32	28	-1	144.105355	54	74	0.320755	1	0	0	0	0	0	0	1	0	--	--		0	T			PROM2_uc002sui.2_Silent_p.F493F|PROM2_uc002suj.2_Silent_p.F147F|PROM2_uc002suk.2_Silent_p.F493F|PROM2_uc002sul.2_Silent_p.F19F|PROM2_uc002sum.2_RNA	198	GBM-27-2518-TP	p.F493F	C	TCCTGGTGTTCGCCACCTTCC	NM_144707	NP_653308	95947041	Q8N271	PROM2_HUMAN	0			12	1612	+	T	T			Silent	493			Helical; (Potential).			
PROM2	0	broad.mit.edu	GRCh37	2	95947910	95947910	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01	TCGA-27-2527-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317620.9:c.1664C>T	p.Ala555Val	p.A555V	ENST00000317620	NM_001165978.1	555	gCg/gTg	0			1			T	A/V	uc002suh.1	protein_coding	YES	CCDS2012.1			1664/2505									ovary(1)	1	c.(1663-1665)GCG>GTG			Pfam_domain:PF05478,hmmpanther:PTHR22730:SF6,hmmpanther:PTHR22730	prominin 2 precursor				ENSP00000318270		14/24	1.65E-05					1.53E-05		6.20E-05	rs775576750,COSM3408035	14/24	.		ENST00000317620	Transcript				apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		ENSG00000155066	g.chr2:95947910C>T	20685			MODERATE		0.945	low	getma.org/?cm=msa&ty=f&p=PROM2_HUMAN&rb=18&re=817&var=A555V	NA	getma.org/?cm=var&var=hg19,2,95947910,C,T&fts=all	A555V	--	--	1																																		PROM2_uc002sui.2_Missense_Mutation_p.A555V|PROM2_uc002suj.2_Missense_Mutation_p.A209V|PROM2_uc002suk.2_Missense_Mutation_p.A555V|PROM2_uc002sul.2_Missense_Mutation_p.A81V|PROM2_uc002sum.2_RNA	0,1	1		benign(0.098)	p.A555V	NM_144707	NP_653308		tolerated(0.16)	0,1	PROM2_HUMAN	PROM2	HGNC	Q8N271	PROM2_HUMAN					14	1797	+			UPI0000071157	555			Extracellular (Potential).		SNV	PROM2,missense_variant,p.Ala555Val,ENST00000317620,NM_001165978.1;PROM2,missense_variant,p.Ala555Val,ENST00000317668,NM_144707.2;PROM2,missense_variant,p.Ala555Val,ENST00000542147,;PROM2,missense_variant,p.Ala555Val,ENST00000403131,NM_001165977.1;PROM2,non_coding_transcript_exon_variant,,ENST00000497110,;PROM2,downstream_gene_variant,,ENST00000463580,;PROM2,3_prime_UTR_variant,,ENST00000431567,;PROM2,non_coding_transcript_exon_variant,,ENST00000487138,;PROM2,downstream_gene_variant,,ENST00000478295,;	uc002suh.1	c.1664C>T	1797/4728	1	1			c.1664C>T						2	SNP	c.(1663-1665)GCG>GTG	12	12			ovary(1)	1	Broad	prominin 2 precursor			95947910		0.627	ENSG00000155066	12348	g.chr2:95947910C>T		apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane								-1.03404	KEEP	0	4	-1	20	32	0	4	-1	8.224626	20	32	0.078431	1	0	0	0	0	1	0	0	0	--	--		0	T			PROM2_uc002sui.2_Missense_Mutation_p.A555V|PROM2_uc002suj.2_Missense_Mutation_p.A209V|PROM2_uc002suk.2_Missense_Mutation_p.A555V|PROM2_uc002sul.2_Missense_Mutation_p.A81V|PROM2_uc002sum.2_RNA	204	GBM-27-2527-TP	p.A555V	C	GAAGGGGCAGCGCTCTGGACA	NM_144707	NP_653308	95947910	Q8N271	PROM2_HUMAN	0			14	1797	+	T	T			Missense_Mutation	555			Extracellular (Potential).			
PROS1	5627		GRCh37	3	93646100	93646100	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000394236.3:c.228G>A	p.Pro76=	p.P76=	ENST00000394236	NM_000313.3	76	ccG/ccA	0																																																																																																																																																																																																																																												
PROSER1	80209	broad.mit.edu	GRCh37	13	39586362	39586362	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01	TCGA-02-0047-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000352251.3:c.2570C>T	p.Ser857Phe	p.S857F	ENST00000352251	NM_025138.4	857	tCt/tTt	0			1			A	S/F	uc001uwy.2	protein_coding	YES	CCDS9368.2			2570/2835									ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5	c.(2569-2571)TCT>TTT			hmmpanther:PTHR14880,hmmpanther:PTHR14880:SF2,Low_complexity_(Seg):seg	hypothetical protein LOC80209 isoform 1				ENSP00000332034		13-Dec									COSM3399362	13-Dec	.		ENST00000352251	Transcript						ENSG00000120685	g.chr13:39586362G>A	20291			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=PRSR1_HUMAN&rb=801&re=944&var=S857F	NA	getma.org/?cm=var&var=hg19,13,39586362,G,A&fts=all	S857F	--	--	1																																		C13orf23_uc001uwz.2_Missense_Mutation_p.S835F	1	1		probably_damaging(0.997)	p.S857F	NM_025138	NP_079414		deleterious(0)	1	PRSR1_HUMAN	PROSER1	HGNC	Q86XN7	CM023_HUMAN		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)			12	3443	-		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)	UPI00001FCC65	857					SNV	PROSER1,missense_variant,p.Ser857Phe,ENST00000352251,NM_025138.4;PROSER1,missense_variant,p.Ser835Phe,ENST00000350125,;PROSER1,non_coding_transcript_exon_variant,,ENST00000468017,;PROSER1,intron_variant,,ENST00000484434,;PROSER1,non_coding_transcript_exon_variant,,ENST00000492646,;PROSER1,downstream_gene_variant,,ENST00000602899,;PROSER1,downstream_gene_variant,,ENST00000602512,;	uc001uwy.2	c.2570C>T	3404/5168	1	1			c.2570C>T						13	SNP	c.(2569-2571)TCT>TTT	53	53			ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5	Broad	hypothetical protein LOC80209 isoform 1			39586362		0.383	ENSG00000120685	1684	g.chr13:39586362G>A										-38.860437	KEEP	7	12	-1	147	206	7	12	-1	36.256181	147	206	0.051136	1	0	0	0	0	1	0	0	0	--	--		0	A			C13orf23_uc001uwz.2_Missense_Mutation_p.S835F	3	GBM-02-0047-TP	p.S857F	G	TTGAAGTCCAGATGATAAACT	NM_025138	NP_079414	39586362	Q86XN7	CM023_HUMAN	0		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)	12	3443	-	A	A		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)	Missense_Mutation	857						
PROSER2	0	broad.mit.edu	GRCh37	10	11908649	11908649	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000277570.5:c.258G>A	p.Val86=	p.V86=	ENST00000277570	NM_153256.3	86	gtG/gtA	0			1			A	V	uc001ikx.2	protein_coding	YES	CCDS7085.1			258/1308									central_nervous_system(1)	1	c.(256-258)GTG>GTA			Pfam_domain:PF15385,hmmpanther:PTHR16095,hmmpanther:PTHR16095:SF9	hypothetical protein LOC254427				ENSP00000277570		4-Mar									COSM3396939	4-Mar	.		ENST00000277570	Transcript						ENSG00000148426	g.chr10:11908649G>A	23728			LOW								--	--	1																																		uc001iky.1_Intron	1	1			p.V86V	NM_153256	NP_694988			1	PRSR2_HUMAN	PROSER2	HGNC	Q86WR7	CJ047_HUMAN			D3DRR9_HUMAN		3	412	+			UPI00001F8B49	86					SNV	PROSER2,synonymous_variant,p.=,ENST00000277570,NM_153256.3;PROSER2,upstream_gene_variant,,ENST00000379200,;PROSER2,downstream_gene_variant,,ENST00000444604,;PROSER2-AS1,intron_variant,,ENST00000445498,;PROSER2-AS1,intron_variant,,ENST00000453242,;PROSER2,non_coding_transcript_exon_variant,,ENST00000474155,;	uc001ikx.2	c.258G>A	412/3333	2	2			c.258G>A						10	SNP	c.(256-258)GTG>GTA	32	32			central_nervous_system(1)	1	Broad	hypothetical protein LOC254427			11908649		0.577	ENSG00000148426	1571	g.chr10:11908649G>A										99.703327	KEEP	26	15	-1	10	6	26	15	-1	101.874578	10	6	0.72	1	0	0	0	0	0	0	1	0	--	--		0	A			uc001iky.1_Intron	131	GBM-12-5301-TP	p.V86V	G	ATGGAGGAGTGTGCTGCCTCT	NM_153256	NP_694988	11908649	Q86WR7	CJ047_HUMAN	0			3	412	+	A	A			Silent	86						
PROX1	0	broad.mit.edu	GRCh37	1	214170642	214170642	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-1450-01	TCGA-14-1450-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261454.4:c.764A>G	p.Glu255Gly	p.E255G	ENST00000261454		255	gAa/gGa	0			1			G	E/G	uc001hkh.2	protein_coding		CCDS31021.1			764/2214									ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6	c.(763-765)GAA>GGA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12198:SF2,hmmpanther:PTHR12198	prospero homeobox 1				ENSP00000261454		4-Jan									COSM3747823	4-Jan	.		ENST00000261454	Transcript			aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	ENSG00000117707	g.chr1:214170642A>G	9459			MODERATE		2.16	medium	getma.org/?cm=msa&ty=f&p=PROX1_HUMAN&rb=36&re=313&var=E255G	NA	getma.org/?cm=var&var=hg19,1,214170642,A,G&fts=all	E255G	--	--	1																																		PROX1_uc001hkg.1_Missense_Mutation_p.E255G	1			probably_damaging(1)	p.E255G	NM_002763	NP_002754		deleterious(0)	1	PROX1_HUMAN	PROX1	HGNC	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	U3KPY6_HUMAN,C9JU29_HUMAN,B4DP41_HUMAN		2	1036	+			UPI0000071D14	255					SNV	PROX1,missense_variant,p.Glu255Gly,ENST00000366958,NM_001270616.1;PROX1,missense_variant,p.Glu255Gly,ENST00000498508,;PROX1,missense_variant,p.Glu255Gly,ENST00000435016,NM_002763.4;PROX1,missense_variant,p.Glu255Gly,ENST00000261454,;PROX1,downstream_gene_variant,,ENST00000471129,;PROX1,downstream_gene_variant,,ENST00000607425,;	uc001hkh.2	c.764A>G	764/2797	3	3			c.764A>G						1	SNP	c.(763-765)GAA>GGA	61	61			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6	Broad	prospero homeobox 1			214170642		0.532	ENSG00000117707	12352	g.chr1:214170642A>G	aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding							62.928768	KEEP	11	10	-1	19	31	11	10	-1	65.042534	19	31	0.307692	1	0	0	0	0	1	0	0	0	--	--		0	G			PROX1_uc001hkg.1_Missense_Mutation_p.E255G	145	GBM-14-1450-TP	p.E255G	A	CAGCTGCAGGAAAAGTTCTAC	NM_002763	NP_002754	214170642	Q92786	PROX1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1036	+	G	G			Missense_Mutation	255						
PROX1	0	broad.mit.edu	GRCh37	1	214209144	214209144	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-32-2615-01	TCGA-32-2615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261454.4:c.2181C>G	p.Ser727=	p.S727=	ENST00000261454		727	tcC/tcG	0			1			G	S	uc001hkh.2	protein_coding		CCDS31021.1			2181/2214									ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6	c.(2179-2181)TCC>TCG			hmmpanther:PTHR12198:SF2,hmmpanther:PTHR12198,Gene3D:1mijA00,Pfam_domain:PF05044,Superfamily_domains:SSF46689	prospero homeobox 1				ENSP00000261454		4-Apr									COSM3400287	4-Apr	.		ENST00000261454	Transcript			aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	ENSG00000117707	g.chr1:214209144C>G	9459			LOW								--	--	1																																			1				p.S727S	NM_002763	NP_002754			1	PROX1_HUMAN	PROX1	HGNC	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	U3KPY6_HUMAN,C9JU29_HUMAN,B4DP41_HUMAN		5	2453	+			UPI0000071D14	727			Prospero-like.		SNV	PROX1,synonymous_variant,p.=,ENST00000366958,NM_001270616.1;PROX1,synonymous_variant,p.=,ENST00000498508,;PROX1,synonymous_variant,p.=,ENST00000435016,NM_002763.4;PROX1,synonymous_variant,p.=,ENST00000261454,;	uc001hkh.2	c.2181C>G	2181/2797	3	3			c.2181C>G						1	SNP	c.(2179-2181)TCC>TCG	12	12			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6	Broad	prospero homeobox 1			214209144		0.423	ENSG00000117707	12352	g.chr1:214209144C>G	aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding							-18.997805	KEEP	2	2	-1	71	55	2	2	-1	7.241272	71	55	0.035714	1	0	0	0	0	0	0	1	0	--	--		0	G				239	GBM-32-2615-TP	p.S727S	C	TTTTCAAATCCCCGAACTGCC	NM_002763	NP_002754	214209144	Q92786	PROX1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	5	2453	+	G	G			Silent	727			Prospero-like.			
PROX2	0	broad.mit.edu	GRCh37	14	75329549	75329549	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-15-0742-01	TCGA-15-0742-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000556489.2:c.989C>G	p.Ala330Gly	p.A330G	ENST00000556489	NM_001243007.1	330	gCa/gGa	0			1			C	A/G	uc001xqr.1	protein_coding					989/1779										0	c.(988-990)GCA>GGA			hmmpanther:PTHR12198,hmmpanther:PTHR12198:SF4	prospero homeobox 2				ENSP00000451223		4-Jan									COSM3401472	4-Jan	.		ENST00000556489	Transcript			multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	ENSG00000119608	g.chr14:75329549G>C	26715			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=PROX2_HUMAN&rb=201&re=360&var=A330G	NA	getma.org/?cm=var&var=hg19,14,75329549,G,C&fts=all	A330G	--	--	1																																		PROX2_uc001xqq.1_Intron	1			benign(0.033)	p.A330G	NM_001080408	NP_001073877		tolerated(0.21)	1		PROX2	HGNC	Q3B8N5	PROX2_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)	G3V3G0_HUMAN		1	989	-			UPI0002190191	330					SNV	PROX2,missense_variant,p.Ala330Gly,ENST00000556489,NM_001243007.1;PROX2,missense_variant,p.Ala330Gly,ENST00000445876,;PROX2,intron_variant,,ENST00000556084,NM_001080408.2;	uc001xqr.1	c.989C>G	989/2763	3	3			c.989C>G						14	SNP	c.(988-990)GCA>GGA	14	14				0	Broad	prospero homeobox 2			75329549		0.502	ENSG00000119608	12353	g.chr14:75329549G>C	multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding							286.344366	KEEP	54	35	-1	51	46	54	35	-1	286.472084	51	46	0.47093	1	0	0	0	0	1	0	0	0	--	--		0	C			PROX2_uc001xqq.1_Intron	153	GBM-15-0742-TP	p.A330G	G	GGGAAAGTTTGCTGGGGGATC	NM_001080408	NP_001073877	75329549	Q3B8N5	PROX2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)	1	989	-	C	C			Missense_Mutation	330						
PROZ	8858	broad.mit.edu	GRCh37	13	113812987	113812987	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0879-01	TCGA-06-0879-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342783.4:c.13G>A	p.Val5Ile	p.V5I	ENST00000342783	NM_001256134.1	5	Gtc/Atc	0		A:0	1	A:0		A	V/I	uc001vta.1	protein_coding		CCDS9531.1			13/1203										0	c.(13-15)GTC>ATC			PIRSF_domain:PIRSF001143,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	protein Z, vitamin K-dependent plasma	Menadione(DB00170)	A:0.004		ENSP00000364697	A:0	8-Jan	0.000322	0.000146		0.00132		4.57E-05	0.00185	0.00228	rs200554473,COSM3399248	8-Jan	common_variant		ENST00000375547	Transcript	1	A:0.0010	blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity	ENSG00000126231	g.chr13:113812987G>A	9460			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=PROZ_HUMAN&rb=1&re=45&var=V5I	NA	getma.org/?cm=var&var=hg19,13,113812987,G,A&fts=all	V5I	--	--	1																																		PROZ_uc010agr.1_Missense_Mutation_p.V5I	0,1			benign(0)	p.V5I	NM_003891	NP_003882	A:0.001	tolerated(0.75)	0,1	PROZ_HUMAN	PROZ	HGNC	P22891	PROZ_HUMAN	all cancers(43;0.104)				1	20	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	UPI00001323F3	5					SNV	PROZ,missense_variant,p.Val5Ile,ENST00000342783,NM_001256134.1;PROZ,missense_variant,p.Val5Ile,ENST00000375547,NM_003891.2;	uc001vta.1	c.13G>A	20/1485	2	2			c.13G>A						13	SNP	c.(13-15)GTC>ATC	42	42				0	Broad	protein Z, vitamin K-dependent plasma		Menadione(DB00170)	113812987		0.657	ENSG00000126231	12354	g.chr13:113812987G>A	blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity							28.212577	KEEP	10	3	-1	13	7	10	3	-1	28.584746	13	7	0.37931	1	0	0	0	0	1	0	0	0	--	--		0	A			PROZ_uc010agr.1_Missense_Mutation_p.V5I	75	GBM-06-0879-TP	p.V5I	G	GGCAGGCTGCGTCCCACTGCT	NM_003891	NP_003882	113812987	P22891	PROZ_HUMAN	0	all cancers(43;0.104)		1	20	+	A	A	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	Missense_Mutation	5						
PRPF19	0	broad.mit.edu	GRCh37	11	60665709	60665709	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000227524.4:c.1175C>T	p.Ser392Leu	p.S392L	ENST00000227524	NM_014502.4	392	tCg/tTg	0			1			A	S/L	uc001nqf.2	protein_coding	YES	CCDS7995.1			1175/1515									ovary(1)	1	c.(1174-1176)TCG>TTG			Superfamily_domains:SSF50978,SMART_domains:SM00320,Pfam_domain:PF00400,Gene3D:2.130.10.10,hmmpanther:PTHR13889,PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,PROSITE_profiles:PS50231	PRP19/PSO4 pre-mRNA processing factor 19				ENSP00000227524		14/16									COSM3397953	14/16	.		ENST00000227524	Transcript			DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity	ENSG00000110107	g.chr11:60665709G>A	17896			MODERATE		0.735	neutral	getma.org/?cm=msa&ty=f&p=PRP19_HUMAN&rb=382&re=420&var=S392L	NA	getma.org/?cm=var&var=hg19,11,60665709,G,A&fts=all	S392L	--	--	1																																			1	1		benign(0.147)	p.S392L	NM_014502	NP_055317		tolerated(0.06)	1	PRP19_HUMAN	PRPF19	HGNC	Q9UMS4	PRP19_HUMAN			F5H2I0_HUMAN		14	1382	-			UPI000003F659	392			WD 5.		SNV	PRPF19,missense_variant,p.Ser392Leu,ENST00000227524,NM_014502.4;PRPF19,intron_variant,,ENST00000535326,;PRPF19,intron_variant,,ENST00000540473,;PRPF19,downstream_gene_variant,,ENST00000541371,;PRPF19,downstream_gene_variant,,ENST00000546152,;PRPF19,non_coding_transcript_exon_variant,,ENST00000539960,;PRPF19,non_coding_transcript_exon_variant,,ENST00000539180,;	uc001nqf.2	c.1175C>T	1381/2157	2	2			c.1175C>T						11	SNP	c.(1174-1176)TCG>TTG	34	34			ovary(1)	1	Broad	PRP19/PSO4 pre-mRNA processing factor 19			60665709		0.532	ENSG00000110107	12356	g.chr11:60665709G>A	DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity							117.61007	KEEP	19	26	-1	30	36	19	26	-1	118.203973	30	36	0.414894	1	0	0	0	0	1	0	0	0	--	--		0	A				270	GBM-76-4931-TP	p.S392L	G	GATGGGGCCCGAGTGGCCAGG	NM_014502	NP_055317	60665709	Q9UMS4	PRP19_HUMAN	0			14	1382	-	A	A			Missense_Mutation	392			WD 5.			
PRPF3	0	broad.mit.edu	GRCh37	1	150318611	150318611	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A			TCGA-26-5132-01	TCGA-26-5132-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324862.6:c.1758G>A	p.Gly586=	p.G586=	ENST00000324862	NM_004698.2	586	ggG/ggA	0			1			A	G	uc001eum.3	protein_coding	YES	CCDS951.1			1758/2052									ovary(1)	1	c.(1756-1758)GGG>GGA			hmmpanther:PTHR14212,Pfam_domain:PF06544	PRP3 pre-mRNA processing factor 3 homolog				ENSP00000315379		13/16									COSM2156917	13/16	.		ENST00000324862	Transcript	1		nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	ENSG00000117360	g.chr1:150318611G>A	17348			LOW								--	--	1																																		PRPF3_uc009wlp.2_RNA|PRPF3_uc010pca.1_Silent_p.G545G|PRPF3_uc010pcb.1_Silent_p.G537G|PRPF3_uc009wlq.1_RNA	1	1			p.G586G	NM_004698	NP_004689			1	PRPF3_HUMAN	PRPF3	HGNC	O43395	PRPF3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)			13	1920	+	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		UPI00000729AA	586					SNV	PRPF3,splice_region_variant,p.=,ENST00000324862,NM_004698.2;PRPF3,splice_region_variant,p.=,ENST00000414970,;PRPF3,downstream_gene_variant,,ENST00000543398,;PRPF3,splice_region_variant,,ENST00000467329,;PRPF3,non_coding_transcript_exon_variant,,ENST00000476970,;PRPF3,upstream_gene_variant,,ENST00000470824,;PRPF3,downstream_gene_variant,,ENST00000493553,;	uc001eum.3	c.1758G>A	1923/2433	2	2			c.1758G>A						1	SNP	c.(1756-1758)GGG>GGA	32	32			ovary(1)	1	Broad	PRP3 pre-mRNA processing factor 3 homolog			150318611		0.488	ENSG00000117360	12357	g.chr1:150318611G>A	nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	Ovarian(168;1070 2670 5178 20729)			Ovarian(168;1070 2670 5178 20729)			441.328661	KEEP	73	97	-1	147	185	73	97	-1	451.830652	147	185	0.335616	1	0	0	0	0	0	0	1	0	--	--		0	A			PRPF3_uc009wlp.2_RNA|PRPF3_uc010pca.1_Silent_p.G545G|PRPF3_uc010pcb.1_Silent_p.G537G|PRPF3_uc009wlq.1_RNA	181	GBM-26-5132-TP	p.G586G	G	TAGTGGAAGGGGGTGAGTCTG	NM_004698	NP_004689	150318611	O43395	PRPF3_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)	13	1920	+	A	A	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		Silent	586						
PRPF31	0	broad.mit.edu	GRCh37	19	54621969	54621969	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs145505952	byFrequency	TCGA-19-2625-01	TCGA-19-2625-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321030.4:c.194T>C	p.Met65Thr	p.M65T	ENST00000321030	NM_015629.3	65	aTg/aCg	0			1			C	M/T	uc002qdh.2	protein_coding	YES	CCDS12879.1			194/1500									ovary(1)	1	c.(193-195)ATG>ACG			hmmpanther:PTHR13904	pre-mRNA processing factor 31 homolog				ENSP00000324122		14-Mar									COSM3404569	14-Mar	.		ENST00000321030	Transcript	1		assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding	ENSG00000105618	g.chr19:54621969T>C	15446			MODERATE		-0.975	neutral	getma.org/?cm=msa&ty=f&p=PRP31_HUMAN&rb=1&re=91&var=M65T	NA	getma.org/?cm=var&var=hg19,19,54621969,T,C&fts=all	M65T	--	--	1																																		TFPT_uc010yej.1_5'Flank|TFPT_uc010erd.2_5'Flank|PRPF31_uc010yek.1_Missense_Mutation_p.M65T	1	1		benign(0)	p.M65T	NM_015629	NP_056444		tolerated(0.63)	1	PRP31_HUMAN	PRPF31	HGNC	Q8WWY3	PRP31_HUMAN			F1T0A5_HUMAN,E7EU94_HUMAN,E7ESX0_HUMAN,E7EN72_HUMAN		3	590	+	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		UPI000013D407	65					SNV	PRPF31,missense_variant,p.Met65Thr,ENST00000321030,NM_015629.3;PRPF31,missense_variant,p.Met65Thr,ENST00000391755,;PRPF31,missense_variant,p.Met65Thr,ENST00000419967,;PRPF31,missense_variant,p.Met65Thr,ENST00000445811,;PRPF31,missense_variant,p.Met65Thr,ENST00000445124,;PRPF31,missense_variant,p.Met65Thr,ENST00000447810,;TFPT,upstream_gene_variant,,ENST00000391759,NM_013342.3;TFPT,upstream_gene_variant,,ENST00000391758,;TFPT,upstream_gene_variant,,ENST00000391757,;AC012314.8,downstream_gene_variant,,ENST00000452097,;PRPF31,upstream_gene_variant,,ENST00000498612,;PRPF31,non_coding_transcript_exon_variant,,ENST00000466404,;PRPF31,non_coding_transcript_exon_variant,,ENST00000467851,;TFPT,upstream_gene_variant,,ENST00000420715,;	uc002qdh.2	c.194T>C	543/2126	3	3			c.194T>C						19	SNP	c.(193-195)ATG>ACG	62	62			ovary(1)	1	Broad	pre-mRNA processing factor 31 homolog			54621969		0.502	ENSG00000105618	12358	g.chr19:54621969T>C	assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding							234.591594	KEEP	49	46	-1	104	99	49	46	-1	242.822465	104	99	0.314815	1	0	0	0	0	1	0	0	0	--	--		0	C			TFPT_uc010yej.1_5'Flank|TFPT_uc010erd.2_5'Flank|PRPF31_uc010yek.1_Missense_Mutation_p.M65T	165	GBM-19-2625-TP	p.M65T	T	GAGATTATGATGAAGATTGAG	NM_015629	NP_056444	54621969	Q8WWY3	PRP31_HUMAN	0			3	590	+	C	C	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		Missense_Mutation	65						
PRPF31	0	broad.mit.edu	GRCh37	19	54627985	54627985	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01	TCGA-41-3392-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321030.4:c.805C>T	p.Pro269Ser	p.P269S	ENST00000321030	NM_015629.3	269	Ccc/Tcc	0			1			T	P/S	uc002qdh.2	protein_coding	YES	CCDS12879.1			805/1500									ovary(1)	1	c.(805-807)CCC>TCC			PROSITE_profiles:PS51358,hmmpanther:PTHR13904,Pfam_domain:PF01798,Superfamily_domains:SSF89124	pre-mRNA processing factor 31 homolog				ENSP00000324122		14-Aug									COSM3404570	14-Aug	.		ENST00000321030	Transcript	1		assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding	ENSG00000105618	g.chr19:54627985C>T	15446			MODERATE		3.055	medium	getma.org/?cm=msa&ty=f&p=PRP31_HUMAN&rb=186&re=334&var=P269S	getma.org/pdb.php?prot=PRP31_HUMAN&from=186&to=334&var=P269S	getma.org/?cm=var&var=hg19,19,54627985,C,T&fts=all	P269S	--	--	1																																		PRPF31_uc010yek.1_Missense_Mutation_p.P269S	1	1		probably_damaging(0.989)	p.P269S	NM_015629	NP_056444		deleterious(0.05)	1	PRP31_HUMAN	PRPF31	HGNC	Q8WWY3	PRP31_HUMAN			F1T0A5_HUMAN,E7EU94_HUMAN,E7ESX0_HUMAN,E7EN72_HUMAN		8	1201	+	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		UPI000013D407	269			Nop.		SNV	PRPF31,missense_variant,p.Pro269Ser,ENST00000321030,NM_015629.3;PRPF31,missense_variant,p.Pro269Ser,ENST00000391755,;PRPF31,missense_variant,p.Pro269Ser,ENST00000419967,;PRPF31,missense_variant,p.Pro269Ser,ENST00000445811,;PRPF31,missense_variant,p.Pro269Ser,ENST00000445124,;PRPF31,downstream_gene_variant,,ENST00000447810,;AC012314.8,non_coding_transcript_exon_variant,,ENST00000452097,;PRPF31,non_coding_transcript_exon_variant,,ENST00000498612,;PRPF31,non_coding_transcript_exon_variant,,ENST00000466404,;	uc002qdh.2	c.805C>T	1154/2126	2	2			c.805C>T						19	SNP	c.(805-807)CCC>TCC	33	33			ovary(1)	1	Broad	pre-mRNA processing factor 31 homolog			54627985		0.672	ENSG00000105618	12358	g.chr19:54627985C>T	assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding							0.294494	KEEP	4	5	-1	42	39	4	5	-1	12.476726	42	39	0.085714	1	0	0	0	0	1	0	0	0	--	--		0	T			PRPF31_uc010yek.1_Missense_Mutation_p.P269S	254	GBM-41-3392-TP	p.P269S	C	CTCAGTGCTGCCCCACACCGG	NM_015629	NP_056444	54627985	Q8WWY3	PRP31_HUMAN	0			8	1201	+	T	T	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		Missense_Mutation	269			Nop.			
PRPF4	9128		GRCh37	9	116038922	116038922	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000374198.4:c.125G>A	p.Arg42His	p.R42H	ENST00000374198	NM_001244926.1	42	cGt/cAt	0																																																																																																																																																																																																																																												
PRPF40A	55660		GRCh37	2	153515685	153515685	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000410080.1:c.2428G>A	p.Asp810Asn	p.D810N	ENST00000410080	NM_017892.3	810	Gat/Aat	0																																																																																																																																																																																																																																												
PRPF40A	55660		GRCh37	2	153514467	153514467	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000410080.1:c.2636A>G	p.Asp879Gly	p.D879G	ENST00000410080	NM_017892.3	879	gAc/gGc	0																																																																																																																																																																																																																																												
PRPF40B	25766	broad.mit.edu	GRCh37	12	50028946	50028946	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-5415-01	TCGA-06-5415-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000548825.2:c.1066G>C	p.Glu356Gln	p.E356Q	ENST00000548825	NM_001031698.2	356	Gag/Cag	0			1			C	E/Q	uc001rur.1	protein_coding					1000/2616									skin(2)|ovary(1)|pancreas(1)|kidney(1)	5	c.(1000-1002)GAG>CAG			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11864,hmmpanther:PTHR11864:SF1	Huntingtin interacting protein C isoform 1				ENSP00000369634		25-Dec									COSM2153225	25-Dec	.		ENST00000380281	Transcript			mRNA processing|RNA splicing	nuclear speck		ENSG00000110844	g.chr12:50028946G>C	25031			MODERATE		1.78	low	getma.org/?cm=msa&ty=f&p=PR40B_HUMAN&rb=328&re=491&var=E334Q	NA	getma.org/?cm=var&var=hg19,12,50028946,G,C&fts=all	E334Q	--	--	1																																		PRPF40B_uc001rup.1_Missense_Mutation_p.E356Q|PRPF40B_uc001ruq.1_Missense_Mutation_p.E328Q|PRPF40B_uc001rus.1_Missense_Mutation_p.E277Q	1			possibly_damaging(0.727)	p.E334Q	NM_001031698	NP_001026868		deleterious(0)	1	PR40B_HUMAN	PRPF40B	HGNC	Q6NWY9	PR40B_HUMAN					12	1064	+			UPI000034E5B3	334					SNV	PRPF40B,missense_variant,p.Glu328Gln,ENST00000261897,;PRPF40B,missense_variant,p.Glu356Gln,ENST00000548825,NM_001031698.2;PRPF40B,missense_variant,p.Glu334Gln,ENST00000380281,;FMNL3,downstream_gene_variant,,ENST00000335154,NM_175736.4;PRPF40B,downstream_gene_variant,,ENST00000551063,;FMNL3,downstream_gene_variant,,ENST00000550668,;PRPF40B,downstream_gene_variant,,ENST00000548436,;PRPF40B,downstream_gene_variant,,ENST00000551111,;PRPF40B,upstream_gene_variant,,ENST00000549547,;PRPF40B,downstream_gene_variant,,ENST00000551418,;PRPF40B,upstream_gene_variant,,ENST00000548399,;PRPF40B,downstream_gene_variant,,ENST00000551320,;	uc001rur.1	c.1000G>C	1064/3154	3	3			c.1000G>C						12	SNP	c.(1000-1002)GAG>CAG	64	64			skin(2)|ovary(1)|pancreas(1)|kidney(1)	5	Broad	Huntingtin interacting protein C isoform 1			50028946		0.582	ENSG00000110844	12364	g.chr12:50028946G>C	mRNA processing|RNA splicing	nuclear speck								153.69078	KEEP	14	33	-1	30	25	14	33	-1	153.774119	30	25	0.468085	1	0	0	0	0	1	0	0	0	--	--		0	C			PRPF40B_uc001rup.1_Missense_Mutation_p.E356Q|PRPF40B_uc001ruq.1_Missense_Mutation_p.E328Q|PRPF40B_uc001rus.1_Missense_Mutation_p.E277Q	98	GBM-06-5415-TP	p.E334Q	G	GCGGGAGAAGGAGGAGAAGGA	NM_001031698	NP_001026868	50028946	Q6NWY9	PR40B_HUMAN	0			12	1064	+	C	C			Missense_Mutation	334						
PRPF40B	0	broad.mit.edu	GRCh37	12	50030609	50030609	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2518-01	TCGA-27-2518-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380281.1:c.1471C>T	p.Arg491Cys	p.R491C	ENST00000380281		491	Cgc/Tgc	0			1			T	R/C	uc001rur.1	protein_coding					1471/2616									skin(2)|ovary(1)|pancreas(1)|kidney(1)	5	c.(1471-1473)CGC>TGC			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF81698,SMART_domains:SM00441,Gene3D:1uzcA00,hmmpanther:PTHR11864,hmmpanther:PTHR11864:SF1,PROSITE_profiles:PS51676	Huntingtin interacting protein C isoform 1				ENSP00000369634		15/25	2.47E-05					4.50E-05			rs756035810,COSM3398785	15/25	.		ENST00000380281	Transcript			mRNA processing|RNA splicing	nuclear speck		ENSG00000110844	g.chr12:50030609C>T	25031			MODERATE		2.64	medium	getma.org/?cm=msa&ty=f&p=PR40B_HUMAN&rb=328&re=491&var=R491C	NA	getma.org/?cm=var&var=hg19,12,50030609,C,T&fts=all	R491C	--	--	1																																OREG0021797	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	PRPF40B_uc001rup.1_Missense_Mutation_p.R513C|PRPF40B_uc001ruq.1_Missense_Mutation_p.R485C|PRPF40B_uc001rus.1_Missense_Mutation_p.R434C	0,1			possibly_damaging(0.876)	p.R491C	NM_001031698	NP_001026868		deleterious(0)	0,1	PR40B_HUMAN	PRPF40B	HGNC	Q6NWY9	PR40B_HUMAN					15	1535	+			UPI000034E5B3	491					SNV	PRPF40B,missense_variant,p.Arg485Cys,ENST00000261897,;PRPF40B,missense_variant,p.Arg513Cys,ENST00000548825,NM_001031698.2;PRPF40B,missense_variant,p.Arg491Cys,ENST00000380281,;FMNL3,downstream_gene_variant,,ENST00000335154,NM_175736.4;FMNL3,downstream_gene_variant,,ENST00000550668,;PRPF40B,downstream_gene_variant,,ENST00000548436,;PRPF40B,downstream_gene_variant,,ENST00000551111,;PRPF40B,upstream_gene_variant,,ENST00000549547,;PRPF40B,downstream_gene_variant,,ENST00000551418,;PRPF40B,upstream_gene_variant,,ENST00000548399,;PRPF40B,downstream_gene_variant,,ENST00000551320,;	uc001rur.1	c.1471C>T	1535/3154	1	1			c.1471C>T						12	SNP	c.(1471-1473)CGC>TGC	14	14			skin(2)|ovary(1)|pancreas(1)|kidney(1)	5	Broad	Huntingtin interacting protein C isoform 1			50030609		0.577	ENSG00000110844	12364	g.chr12:50030609C>T	mRNA processing|RNA splicing	nuclear speck								50.203126	KEEP	15	12	-1	49	82	15	12	-1	63.594528	49	82	0.179856	1	0	0	0	0	1	0	0	0	--	--		0	T	OREG0021797	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	PRPF40B_uc001rup.1_Missense_Mutation_p.R513C|PRPF40B_uc001ruq.1_Missense_Mutation_p.R485C|PRPF40B_uc001rus.1_Missense_Mutation_p.R434C	198	GBM-27-2518-TP	p.R491C	C	ACGCCAACAACGCAAGAATCG	NM_001031698	NP_001026868	50030609	Q6NWY9	PR40B_HUMAN	0			15	1535	+	T	T			Missense_Mutation	491						
PRPF40B	0	broad.mit.edu	GRCh37	12	50030600	50030600	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01	TCGA-32-1970-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380281.1:c.1462C>T	p.Arg488Cys	p.R488C	ENST00000380281		488	Cgc/Tgc	0			1			T	R/C	uc001rur.1	protein_coding					1462/2616									skin(2)|ovary(1)|pancreas(1)|kidney(1)	5	c.(1462-1464)CGC>TGC			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF81698,Gene3D:1uzcA00,hmmpanther:PTHR11864,hmmpanther:PTHR11864:SF1	Huntingtin interacting protein C isoform 1				ENSP00000369634		15/25	1.65E-05		0.000173						rs781235317,COSM1737541	15/25	.		ENST00000380281	Transcript			mRNA processing|RNA splicing	nuclear speck		ENSG00000110844	g.chr12:50030600C>T	25031			MODERATE		2.725	medium	getma.org/?cm=msa&ty=f&p=PR40B_HUMAN&rb=328&re=491&var=R488C	NA	getma.org/?cm=var&var=hg19,12,50030600,C,T&fts=all	R488C	--	--	1																																OREG0021797	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	PRPF40B_uc001rup.1_Missense_Mutation_p.R510C|PRPF40B_uc001ruq.1_Missense_Mutation_p.R482C|PRPF40B_uc001rus.1_Missense_Mutation_p.R431C	0,1			possibly_damaging(0.876)	p.R488C	NM_001031698	NP_001026868		deleterious(0)	0,1	PR40B_HUMAN	PRPF40B	HGNC	Q6NWY9	PR40B_HUMAN					15	1526	+			UPI000034E5B3	488					SNV	PRPF40B,missense_variant,p.Arg482Cys,ENST00000261897,;PRPF40B,missense_variant,p.Arg510Cys,ENST00000548825,NM_001031698.2;PRPF40B,missense_variant,p.Arg488Cys,ENST00000380281,;FMNL3,downstream_gene_variant,,ENST00000335154,NM_175736.4;FMNL3,downstream_gene_variant,,ENST00000550668,;PRPF40B,downstream_gene_variant,,ENST00000548436,;PRPF40B,downstream_gene_variant,,ENST00000551111,;PRPF40B,upstream_gene_variant,,ENST00000549547,;PRPF40B,downstream_gene_variant,,ENST00000551418,;PRPF40B,downstream_gene_variant,,ENST00000551320,;PRPF40B,upstream_gene_variant,,ENST00000548399,;	uc001rur.1	c.1462C>T	1526/3154	2	2			c.1462C>T						12	SNP	c.(1462-1464)CGC>TGC	34	34			skin(2)|ovary(1)|pancreas(1)|kidney(1)	5	Broad	Huntingtin interacting protein C isoform 1			50030600		0.562	ENSG00000110844	12364	g.chr12:50030600C>T	mRNA processing|RNA splicing	nuclear speck								128.849833	KEEP	24	30	-1	48	49	24	30	-1	131.331419	48	49	0.351562	1	0	0	0	0	1	0	0	0	--	--		0	T	OREG0021797	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	PRPF40B_uc001rup.1_Missense_Mutation_p.R510C|PRPF40B_uc001ruq.1_Missense_Mutation_p.R482C|PRPF40B_uc001rus.1_Missense_Mutation_p.R431C	228	GBM-32-1970-TP	p.R488C	C	TCGGGAGCGACGCCAACAACG	NM_001031698	NP_001026868	50030600	Q6NWY9	PR40B_HUMAN	0			15	1526	+	T	T			Missense_Mutation	488						
PRPF4B	8899	broad.mit.edu	GRCh37	6	4042762	4042762	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0168-01	TCGA-06-0168-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337659.6:c.1610T>C	p.Leu537Pro	p.L537P	ENST00000337659	NM_003913.4	537	cTa/cCa	0			1			C	L/P	uc003mvv.2	protein_coding	YES	CCDS4488.1			1610/3024									breast(5)	5	c.(1609-1611)CTA>CCA				serine/threonine-protein kinase PRP4K				ENSP00000337194		15-May									COSM3411091,COSM3411090	15-May	.		ENST00000337659	Transcript				catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	ENSG00000112739	g.chr6:4042762T>C	17346			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=PRP4B_HUMAN&rb=499&re=686&var=L537P	NA	getma.org/?cm=var&var=hg19,6,4042762,T,C&fts=all	L537P	--	--	1																																		PRPF4B_uc003mvw.2_RNA|PRPF4B_uc011dhv.1_RNA	1,1	1		possibly_damaging(0.766)	p.L537P	NM_003913	NP_003904		deleterious(0.01)	1,1	PRP4B_HUMAN	PRPF4B	HGNC	Q13523	PRP4B_HUMAN			H0YDJ3_HUMAN,F5H2U2_HUMAN		5	1701	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	UPI000013DD12	537					SNV	PRPF4B,missense_variant,p.Leu537Pro,ENST00000337659,NM_003913.4;PRPF4B,missense_variant,p.Leu523Pro,ENST00000538861,;PRPF4B,non_coding_transcript_exon_variant,,ENST00000490399,;PRPF4B,missense_variant,p.Leu537Pro,ENST00000480058,;PRPF4B,missense_variant,p.Leu117Pro,ENST00000481109,;PRPF4B,non_coding_transcript_exon_variant,,ENST00000463634,;	uc003mvv.2	c.1610T>C	1710/4415	3	3			c.1610T>C						6	SNP	c.(1609-1611)CTA>CCA	53	53			breast(5)	5	Broad	serine/threonine-protein kinase PRP4K			4042762		0.313	ENSG00000112739	12365	g.chr6:4042762T>C		catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			298			298	-16.966185	KEEP	3	0	-1	61	65	3	0	-1	7.568094	61	65	0.029703	1	0	0	0	0	1	0	0	0	--	--		0	C			PRPF4B_uc003mvw.2_RNA|PRPF4B_uc011dhv.1_RNA	33	GBM-06-0168-TP	p.L537P	T	GAAGAAGCCCTAATAGAACAG	NM_003913	NP_003904	4042762	Q13523	PRP4B_HUMAN	0			5	1701	+	C	C	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	Missense_Mutation	537						
PRPF8	0	broad.mit.edu	GRCh37	17	1577046	1577046	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-0790-01	TCGA-14-0790-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304992.6:c.3440T>C	p.Val1147Ala	p.V1147A	ENST00000304992	NM_006445.3	1147	gTt/gCt	0			1			G	V/A	uc002fte.2	protein_coding		CCDS11010.1			3440/7008									lung(4)|ovary(2)	6	c.(3439-3441)GTT>GCT			hmmpanther:PTHR11140,hmmpanther:PTHR11140:SF0,Superfamily_domains:SSF53098	U5 snRNP-specific protein				ENSP00000304350		22/43									COSM3402622	22/43	.		ENST00000304992	Transcript	1			catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	ENSG00000174231	g.chr17:1577046A>G	17340			MODERATE		3.6	high	getma.org/?cm=msa&ty=f&p=PRP8_HUMAN&rb=1080&re=1207&var=V1147A	NA	getma.org/?cm=var&var=hg19,17,1577046,A,G&fts=all	V1147A	--	--	1																																			1			probably_damaging(0.998)	p.V1147A	NM_006445	NP_006436		deleterious(0.02)	1	PRP8_HUMAN	PRPF8	HGNC	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)			22	3554	-			UPI000006F2DD	1147					SNV	PRPF8,missense_variant,p.Val1147Ala,ENST00000572621,;PRPF8,missense_variant,p.Val1147Ala,ENST00000304992,NM_006445.3;PRPF8,downstream_gene_variant,,ENST00000577001,;PRPF8,downstream_gene_variant,,ENST00000576407,;PRPF8,downstream_gene_variant,,ENST00000573716,;PRPF8,downstream_gene_variant,,ENST00000576958,;PRPF8,upstream_gene_variant,,ENST00000574217,;	uc002fte.2	c.3440T>C	3554/7295	4	4			c.3440T>C						17	SNP	c.(3439-3441)GTT>GCT	24	24			lung(4)|ovary(2)	6	Broad	U5 snRNP-specific protein			1577046		0.537	ENSG00000174231	12367	g.chr17:1577046A>G		catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding							218.923696	KEEP	35	33	-1	46	55	35	33	-1	220.278036	46	55	0.4	1	0	0	0	0	1	0	0	0	--	--		0	G				137	GBM-14-0790-TP	p.V1147A	A	TCACAAGTTAACATCATGTTT	NM_006445	NP_006436	1577046	Q6P2Q9	PRP8_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	22	3554	-	G	G			Missense_Mutation	1147						
PRPH2	5961	broad.mit.edu	GRCh37	6	42672106	42672106	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0188-01	TCGA-06-0188-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000230381.5:c.825C>T	p.Phe275=	p.F275=	ENST00000230381	NM_000322.4	275	ttC/ttT	0		A:0.0008	1	A:0		A	F	uc003osk.2	protein_coding	YES	CCDS4871.1			825/1041									ovary(4)|central_nervous_system(1)	5	c.(823-825)TTC>TTT			Transmembrane_helices:TMhelix,hmmpanther:PTHR19282:SF202,hmmpanther:PTHR19282,Pfam_domain:PF00335,Prints_domain:PR00218	peripherin 2		A:0		ENSP00000230381	A:0	3-Feb									rs201249148,COSM3411108	3-Feb	.		ENST00000230381	Transcript	1	A:0.0002	cell adhesion|visual perception	integral to membrane		ENSG00000112619	g.chr6:42672106G>A	9942			LOW								--	--	1																																			0,1	1			p.F275F	NM_000322	NP_000313	A:0		0,1	PRPH2_HUMAN	PRPH2	HGNC	P23942	PRPH2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)				2	1111	-	Colorectal(47;0.196)		UPI0000072942	275			Helical; (Potential).		SNV	PRPH2,synonymous_variant,p.=,ENST00000230381,NM_000322.4;	uc003osk.2	c.825C>T	1065/2974	1	1			c.825C>T						6	SNP	c.(823-825)TTC>TTT	63	63			ovary(4)|central_nervous_system(1)	5	Broad	peripherin 2			42672106		0.627	ENSG00000112619	12369	g.chr6:42672106G>A	cell adhesion|visual perception	integral to membrane								8.486599	KEEP	1	3	-1	11	10	1	3	-1	10.579137	11	10	0.181818	1	0	0	0	0	0	0	1	0	--	--		0	A				41	GBM-06-0188-TP	p.F275F	G	GGCCTACCTCGAAGAGCCAAA	NM_000322	NP_000313	42672106	P23942	PRPH2_HUMAN	0	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)		2	1111	-	A	A	Colorectal(47;0.196)		Silent	275			Helical; (Potential).			
PRPS1L1	221823	broad.mit.edu	GRCh37	7	18066565	18066565	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-2562-01	TCGA-06-2562-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000506618.2:c.841A>G	p.Met281Val	p.M281V	ENST00000506618	NM_175886.2	281	Atg/Gtg	0			1			C	M/V	uc003stz.2	protein_coding	YES	CCDS47552.1			841/957									ovary(1)	1	c.(841-843)ATG>GTG			HAMAP:MF_00583_B,hmmpanther:PTHR10210,hmmpanther:PTHR10210:SF40,TIGRFAM_domain:TIGR01251,Gene3D:3.40.50.2020,Pfam_domain:PF14572,Superfamily_domains:SSF53271	phosphoribosyl pyrophosphate synthetase 1-like				ENSP00000424595		1-Jan									COSM3411882,COSM3411881	1-Jan	.		ENST00000506618	Transcript			nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	ENSG00000229937	g.chr7:18066565T>C	9463			MODERATE		1	low	getma.org/?cm=msa&ty=f&p=PRPS3_HUMAN&rb=150&re=281&var=M281V	getma.org/pdb.php?prot=PRPS3_HUMAN&from=150&to=281&var=M281V	getma.org/?cm=var&var=hg19,7,18066565,T,C&fts=all	M281V	--	--	1																																			1,1	1		benign(0.001)	p.M281V	NM_175886	NP_787082		tolerated(0.33)	1,1		PRPS1L1	HGNC	P21108	PRPS3_HUMAN					1	922	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		UPI0001881450	281					SNV	PRPS1L1,missense_variant,p.Met281Val,ENST00000506618,NM_175886.2;	uc003stz.2	c.841A>G	922/1082	3	3			c.841A>G						7	SNP	c.(841-843)ATG>GTG	8	8			ovary(1)	1	Broad	phosphoribosyl pyrophosphate synthetase 1-like			18066565		0.438	ENSG00000229937	12371	g.chr7:18066565T>C	nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity							518.812005	KEEP	91	77	-1	199	173	91	77	-1	534.289408	199	173	0.314961	1	0	0	0	0	1	0	0	0	--	--		0	C				85	GBM-06-2562-TP	p.M281V	T	CAATGCTTCATCTTCTCATCT	NM_175886	NP_787082	18066565	P21108	PRPS3_HUMAN	0			1	922	-	C	C	Lung NSC(10;0.0385)|all_lung(11;0.0736)		Missense_Mutation	281						
PRPS1L1	0	broad.mit.edu	GRCh37	7	18067222	18067222	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01	TCGA-14-1450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000506618.2:c.184G>A	p.Glu62Lys	p.E62K	ENST00000506618	NM_175886.2	62	Gaa/Aaa	0			1			T	E/K	uc003stz.2	protein_coding	YES	CCDS47552.1			184/957									ovary(1)	1	c.(184-186)GAA>AAA			HAMAP:MF_00583_B,hmmpanther:PTHR10210,hmmpanther:PTHR10210:SF40,Pfam_domain:PF13793,TIGRFAM_domain:TIGR01251,Gene3D:3.40.50.2020	phosphoribosyl pyrophosphate synthetase 1-like				ENSP00000424595		1-Jan	8.24E-06		8.64E-05						rs751865681,COSM3411886,COSM3411885	1-Jan	.		ENST00000506618	Transcript			nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	ENSG00000229937	g.chr7:18067222C>T	9463			MODERATE		1.295	low	getma.org/?cm=msa&ty=f&p=PRPS3_HUMAN&rb=4&re=120&var=E62K	getma.org/pdb.php?prot=PRPS3_HUMAN&from=4&to=120&var=E62K	getma.org/?cm=var&var=hg19,7,18067222,C,T&fts=all	E62K	--	--	1																																			0,1,1	1		benign(0.033)	p.E62K	NM_175886	NP_787082		tolerated(0.3)	0,1,1		PRPS1L1	HGNC	P21108	PRPS3_HUMAN					1	265	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		UPI0001881450	62					SNV	PRPS1L1,missense_variant,p.Glu62Lys,ENST00000506618,NM_175886.2;	uc003stz.2	c.184G>A	265/1082	1	1			c.184G>A						7	SNP	c.(184-186)GAA>AAA	15	15			ovary(1)	1	Broad	phosphoribosyl pyrophosphate synthetase 1-like			18067222		0.473	ENSG00000229937	12371	g.chr7:18067222C>T	nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity							385.824035	KEEP	108	81	-1	231	261	108	81	-1	412.248487	231	261	0.275387	1	0	0	0	0	1	0	0	0	--	--		0	T				145	GBM-14-1450-TP	p.E62K	C	TCGTTGATTTCGCCACAACCA	NM_175886	NP_787082	18067222	P21108	PRPS3_HUMAN	0			1	265	-	T	T	Lung NSC(10;0.0385)|all_lung(11;0.0736)		Missense_Mutation	62						
PRPS1L1	221823		GRCh37	7	18066638	18066638	+	synonymous_variant	Silent	SNP	T	T	A			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000506618.2:c.768A>T	p.Pro256=	p.P256=	ENST00000506618	NM_175886.2	256	ccA/ccT	0																																																																																																																																																																																																																																												
PRPSAP1	0	broad.mit.edu	GRCh37	17	74326154	74326154	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-5207-01	TCGA-28-5207-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000446526.3:c.605T>C	p.Ile202Thr	p.I202T	ENST00000446526	NM_002766.2	202	aTt/aCt	0			1			G	I/T	uc010wta.1	protein_coding	YES	CCDS11743.2			605/1158									ovary(1)	1	c.(604-606)ATT>ACT			Gene3D:3.40.50.2020,Pfam_domain:PF14572,hmmpanther:PTHR10210,hmmpanther:PTHR10210:SF28,Superfamily_domains:SSF53271,TIGRFAM_domain:TIGR01251	phosphoribosyl pyrophosphate				ENSP00000414624		10-Jun									COSM2157329	10-Jun	.		ENST00000446526	Transcript			nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity	ENSG00000161542	g.chr17:74326154A>G	9466			MODERATE		3.715	high	getma.org/?cm=msa&ty=f&p=KPRA_HUMAN&rb=127&re=326&var=I173T	getma.org/pdb.php?prot=KPRA_HUMAN&from=127&to=326&var=I173T	getma.org/?cm=var&var=hg19,17,74326154,A,G&fts=all	I173T	--	--	1																																		PRPSAP1_uc010wtb.1_Missense_Mutation_p.I99T	1	1		benign(0.249)	p.I202T	NM_002766	NP_002757		deleterious(0.02)	1	KPRA_HUMAN	PRPSAP1	HGNC	Q14558	KPRA_HUMAN			C9JUN4_HUMAN,C9JKT9_HUMAN,C9J168_HUMAN,B4DP31_HUMAN		6	1051	-			UPI0000D4D88C	173					SNV	PRPSAP1,missense_variant,p.Ile202Thr,ENST00000446526,NM_002766.2;PRPSAP1,missense_variant,p.Ile99Thr,ENST00000324684,;PRPSAP1,missense_variant,p.Ile99Thr,ENST00000436498,;PRPSAP1,missense_variant,p.Ile99Thr,ENST00000435555,;PRPSAP1,downstream_gene_variant,,ENST00000442767,;PRPSAP1,downstream_gene_variant,,ENST00000423915,;PRPSAP1,non_coding_transcript_exon_variant,,ENST00000586137,;PRPSAP1,downstream_gene_variant,,ENST00000494662,;PRPSAP1,upstream_gene_variant,,ENST00000472686,;PRPSAP1,upstream_gene_variant,,ENST00000488339,;	uc010wta.1	c.605T>C	1051/3660	3	3			c.605T>C						17	SNP	c.(604-606)ATT>ACT	59	59			ovary(1)	1	Broad	phosphoribosyl pyrophosphate			74326154		0.393	ENSG00000161542	12373	g.chr17:74326154A>G	nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity							247.506713	KEEP	42	45	-1	96	114	42	45	-1	257.094981	96	114	0.29572	1	0	0	0	0	1	0	0	0	--	--		0	G			PRPSAP1_uc010wtb.1_Missense_Mutation_p.I99T	216	GBM-28-5207-TP	p.I202T	A	CTTAGCTACAATGACTGCATT	NM_002766	NP_002757	74326154	Q14558	KPRA_HUMAN	0			6	1051	-	G	G			Missense_Mutation	173						
PRPSAP2	0	broad.mit.edu	GRCh37	17	18833933	18833933	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-26-1439-01	TCGA-26-1439-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268835.2:c.1032C>T	p.Ile344=	p.I344=	ENST00000268835	NM_002767.3	344	atC/atT	0			1			T	I	uc002gup.1	protein_coding	YES	CCDS11200.1			1032/1110									skin(1)	1	c.(1030-1032)ATC>ATT			hmmpanther:PTHR10210,hmmpanther:PTHR10210:SF29,TIGRFAM_domain:TIGR01251,Pfam_domain:PF14572,Superfamily_domains:SSF53271	phosphoribosyl pyrophosphate				ENSP00000268835		12-Dec									COSM3402652	12-Dec	.		ENST00000268835	Transcript			nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity	ENSG00000141127	g.chr17:18833933C>T	9467			LOW								--	--	1																																		PRPSAP2_uc002guo.1_Silent_p.I258I|PRPSAP2_uc010vyi.1_Silent_p.I292I|PRPSAP2_uc010vyj.1_Silent_p.I258I|PRPSAP2_uc010vyk.1_Silent_p.I283I|PRPSAP2_uc002guq.1_Silent_p.I131I	1	1			p.I344I	NM_002767	NP_002758			1	KPRB_HUMAN	PRPSAP2	HGNC	O60256	KPRB_HUMAN			I3L331_HUMAN,I3L275_HUMAN,I3L164_HUMAN,E7EPA1_HUMAN,C9K0K7_HUMAN,C9JJS3_HUMAN,C9JDU5_HUMAN,C9JDH0_HUMAN,B4E329_HUMAN		12	1243	+			UPI000012DFA1	344					SNV	PRPSAP2,synonymous_variant,p.=,ENST00000268835,NM_002767.3;PRPSAP2,synonymous_variant,p.=,ENST00000536323,NM_001243941.1;PRPSAP2,synonymous_variant,p.=,ENST00000419071,NM_001243936.1,NM_001243942.1;PRPSAP2,synonymous_variant,p.=,ENST00000542013,NM_001243940.1;PRPSAP2,synonymous_variant,p.=,ENST00000574451,;PRPSAP2,downstream_gene_variant,,ENST00000460724,;PRPSAP2,3_prime_UTR_variant,,ENST00000492129,;PRPSAP2,3_prime_UTR_variant,,ENST00000395656,;PRPSAP2,non_coding_transcript_exon_variant,,ENST00000466106,;	uc002gup.1	c.1032C>T	1315/1910	2	2			c.1032C>T						17	SNP	c.(1030-1032)ATC>ATT	32	32			skin(1)	1	Broad	phosphoribosyl pyrophosphate			18833933		0.448	ENSG00000141127	12374	g.chr17:18833933C>T	nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity							-26.999404	KEEP	4	3	-1	83	94	4	3	-1	10.914906	83	94	0.03681	1	0	0	0	0	0	0	1	0	--	--		0	T			PRPSAP2_uc002guo.1_Silent_p.I258I|PRPSAP2_uc010vyi.1_Silent_p.I292I|PRPSAP2_uc010vyj.1_Silent_p.I258I|PRPSAP2_uc010vyk.1_Silent_p.I283I|PRPSAP2_uc002guq.1_Silent_p.I131I	179	GBM-26-1439-TP	p.I344I	C	TCAGCATGATCCTTTCAGAGG	NM_002767	NP_002758	18833933	O60256	KPRB_HUMAN	0			12	1243	+	T	T			Silent	344						
PRR12	57479	broad.mit.edu	GRCh37	19	50099367	50099367	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01	TCGA-06-0214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000418929.2:c.1775C>T	p.Ser592Leu	p.S592L	ENST00000418929	NM_020719.1	592	tCa/tTa	0			1			T	S/L	uc002poo.3	protein_coding	YES	CCDS46143.1			1775/6111									central_nervous_system(1)|pancreas(1)	2	c.(1774-1776)TCA>TTA			hmmpanther:PTHR14709,hmmpanther:PTHR14709:SF1	proline rich 12				ENSP00000394510		14-Apr									COSM3404458	14-Apr	.		ENST00000418929	Transcript					DNA binding	ENSG00000126464	g.chr19:50099367C>T	29217			MODERATE								--	--	1																																			1	1		possibly_damaging(0.504)	p.S592L	NM_020719	NP_065770			1	PRR12_HUMAN	PRR12	HGNC	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)			4	1775	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	UPI0001596889	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					SNV	PRR12,missense_variant,p.Ser592Leu,ENST00000418929,NM_020719.1;	uc002poo.3	c.1775C>T	1787/6955	2	2			c.1775C>T						19	SNP	c.(1774-1776)TCA>TTA	37	37			central_nervous_system(1)|pancreas(1)	2	Broad	proline rich 12			50099367		0.657	ENSG00000126464	12376	g.chr19:50099367C>T			DNA binding							107.250732	KEEP	26	24	-1	43	39	26	24	-1	109.381432	43	39	0.353982	1	0	0	0	0	1	0	0	0	--	--		0	T				50	GBM-06-0214-TP	p.S592L	C	TACCTGAGCTCAGTCTTGGCC	NM_020719	NP_065770	50099367	Q9ULL5	PRR12_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	1775	+	T	T		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	Missense_Mutation	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						
PRR12	0	broad.mit.edu	GRCh37	19	50105110	50105110	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-5139-01	TCGA-26-5139-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000418929.2:c.4708G>A	p.Gly1570Arg	p.G1570R	ENST00000418929	NM_020719.1	1570	Gga/Aga	0			1			A	G/R	uc002poo.3	protein_coding	YES	CCDS46143.1			4708/6111									central_nervous_system(1)|pancreas(1)	2	c.(4708-4710)GGA>AGA			hmmpanther:PTHR14709,hmmpanther:PTHR14709:SF1	proline rich 12				ENSP00000394510		14-Jun									COSM3404460,COSM3404459	14-Jun	.		ENST00000418929	Transcript					DNA binding	ENSG00000126464	g.chr19:50105110G>A	29217			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=PRR12_HUMAN&rb=601&re=800&var=G749R	NA	getma.org/?cm=var&var=hg19,19,50105110,G,A&fts=all	G749R	--	--	1																																			1,1	1		unknown(0)	p.G1570R	NM_020719	NP_065770			1,1	PRR12_HUMAN	PRR12	HGNC	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)			6	4708	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	UPI0001596889	749					SNV	PRR12,missense_variant,p.Gly1570Arg,ENST00000418929,NM_020719.1;	uc002poo.3	c.4708G>A	4720/6955	2	2			c.4708G>A						19	SNP	c.(4708-4710)GGA>AGA	26	26			central_nervous_system(1)|pancreas(1)	2	Broad	proline rich 12			50105110		0.647	ENSG00000126464	12376	g.chr19:50105110G>A			DNA binding							35.338808	KEEP	3	13	-1	15	21	3	13	-1	35.570977	15	21	0.411765	1	0	0	0	0	1	0	0	0	--	--		0	A				186	GBM-26-5139-TP	p.G1570R	G	CGAGAGTGGCGGAGAGGGCAT	NM_020719	NP_065770	50105110	Q9ULL5	PRR12_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	6	4708	+	A	A		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	Missense_Mutation	749						
PRR16	51334	broad.mit.edu	GRCh37	5	120021968	120021968	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-2562-01	TCGA-06-2562-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379551.2:c.410C>A	p.Pro137Gln	p.P137Q	ENST00000379551	NM_016644.1	137	cCa/cAa	0			1			A	P/Q	uc003ksq.2	protein_coding					479/915									pancreas(2)|ovary(1)	3	c.(478-480)CCA>CAA			Pfam_domain:PF15252,hmmpanther:PTHR15917,hmmpanther:PTHR15917:SF0,Low_complexity_(Seg):seg	proline rich 16				ENSP00000385118		2-Feb									COSM202421,COSM2152791	2-Feb	.		ENST00000407149	Transcript						ENSG00000184838	g.chr5:120021968C>A	29654			MODERATE		1.795	low	getma.org/?cm=msa&ty=f&p=PRR16_HUMAN&rb=11&re=302&var=P160Q	NA	getma.org/?cm=var&var=hg19,5,120021968,C,A&fts=all	P160Q	--	--	1																																		PRR16_uc003ksp.2_Missense_Mutation_p.P137Q|PRR16_uc003ksr.2_Missense_Mutation_p.P90Q	1,1			benign(0.086)	p.P160Q	NM_016644	NP_057728		deleterious(0.03)	1,1	PRR16_HUMAN	PRR16	HGNC	Q569H4	PRR16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)	D6RGF0_HUMAN		2	642	+		all_cancers(142;0.0464)|Prostate(80;0.00446)	UPI00004F9C36	160			Pro-rich.		SNV	PRR16,missense_variant,p.Pro137Gln,ENST00000379551,NM_016644.1;PRR16,missense_variant,p.Pro160Gln,ENST00000407149,;PRR16,missense_variant,p.Pro90Gln,ENST00000505123,;PRR16,missense_variant,p.Pro90Gln,ENST00000446965,;PRR16,missense_variant,p.Pro90Gln,ENST00000509923,;	uc003ksq.2	c.479C>A	688/1747	1	1			c.479C>A						5	SNP	c.(478-480)CCA>CAA	62	62			pancreas(2)|ovary(1)	3	Broad	proline rich 16			120021968		0.468	ENSG00000184838	12381	g.chr5:120021968C>A										181.261885	KEEP	26	38	0.59375	37	68	26	38	0.59375	182.994065	37	68	0.387097	1	0	0	0	0	1	0	0	0	--	--		0	A			PRR16_uc003ksp.2_Missense_Mutation_p.P137Q|PRR16_uc003ksr.2_Missense_Mutation_p.P90Q	85	GBM-06-2562-TP	p.P160Q	C	GGAGGCTTACCAGGTGGACCT	NM_016644	NP_057728	120021968	Q569H4	PRR16_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)	2	642	+	A	A		all_cancers(142;0.0464)|Prostate(80;0.00446)	Missense_Mutation	160			Pro-rich.			
PRR16	0	broad.mit.edu	GRCh37	5	120021674	120021674	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-6695-01	TCGA-06-6695-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000407149.2:c.185C>A	p.Thr62Asn	p.T62N	ENST00000407149		62	aCc/aAc	0			1			A	T/N	uc003ksq.2	protein_coding					185/915									pancreas(2)|ovary(1)	3	c.(184-186)ACC>AAC			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF15252,hmmpanther:PTHR15917,hmmpanther:PTHR15917:SF0	proline rich 16				ENSP00000385118		2-Feb									COSM3409677,COSM3409678	2-Feb	.		ENST00000407149	Transcript						ENSG00000184838	g.chr5:120021674C>A	29654			MODERATE		1.83	low	getma.org/?cm=msa&ty=f&p=PRR16_HUMAN&rb=11&re=302&var=T62N	NA	getma.org/?cm=var&var=hg19,5,120021674,C,A&fts=all	T62N	--	--	1																																		PRR16_uc003ksp.2_Missense_Mutation_p.T39N|PRR16_uc003ksr.2_5'UTR	1,1			probably_damaging(0.999)	p.T62N	NM_016644	NP_057728		deleterious(0)	1,1	PRR16_HUMAN	PRR16	HGNC	Q569H4	PRR16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)	D6RGF0_HUMAN		2	348	+		all_cancers(142;0.0464)|Prostate(80;0.00446)	UPI00004F9C36	62			Potential.		SNV	PRR16,missense_variant,p.Thr39Asn,ENST00000379551,NM_016644.1;PRR16,missense_variant,p.Thr62Asn,ENST00000407149,;PRR16,5_prime_UTR_variant,,ENST00000505123,;PRR16,5_prime_UTR_variant,,ENST00000446965,;PRR16,5_prime_UTR_variant,,ENST00000509923,;	uc003ksq.2	c.185C>A	394/1747	2	2			c.185C>A						5	SNP	c.(184-186)ACC>AAC	47	47			pancreas(2)|ovary(1)	3	Broad	proline rich 16			120021674		0.443	ENSG00000184838	12381	g.chr5:120021674C>A										112.465618	KEEP	26	16	0.380952381	22	26	26	16	0.380952381	112.534733	22	26	0.468354	1	0	0	0	0	1	0	0	0	--	--		0	A			PRR16_uc003ksp.2_Missense_Mutation_p.T39N|PRR16_uc003ksr.2_5'UTR	110	GBM-06-6695-TP	p.T62N	C	GACACCCTGACCTCTGACCTA	NM_016644	NP_057728	120021674	Q569H4	PRR16_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)	2	348	+	A	A		all_cancers(142;0.0464)|Prostate(80;0.00446)	Missense_Mutation	62			Potential.			
PRR16	51334		GRCh37	5	120022105	120022105	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000379551.2:c.547C>T	p.Arg183Trp	p.R183W	ENST00000379551	NM_016644.1	183	Cgg/Tgg	0																																																																																																																																																																																																																																												
PRR23B	389151	broad.mit.edu	GRCh37	3	138739098	138739098	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329447.5:c.406G>A	p.Val136Ile	p.V136I	ENST00000329447	NM_001013650.2	136	Gtc/Atc	0			1			T	V/I	uc003esy.1	protein_coding	YES	CCDS33868.1			406/798									breast(1)	1	c.(406-408)GTC>ATC			hmmpanther:PTHR31813,hmmpanther:PTHR31813:SF2,Pfam_domain:PF10630	proline rich 23B				ENSP00000328768		1-Jan									COSM1484673	1-Jan	.		ENST00000329447	Transcript						ENSG00000184814	g.chr3:138739098C>T	33764			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=PR23B_HUMAN&rb=1&re=262&var=V136I	NA	getma.org/?cm=var&var=hg19,3,138739098,C,T&fts=all	V136I	--	--	1																																			1	1		benign(0.112)	p.V136I	NM_001013650	NP_001013672		tolerated(0.29)	1	PR23B_HUMAN	PRR23B	HGNC	Q6ZRT6	PR23B_HUMAN					1	671	-			UPI00001C0F1A	136					SNV	PRR23B,missense_variant,p.Val136Ile,ENST00000329447,NM_001013650.2;MRPS22,intron_variant,,ENST00000495075,;	uc003esy.1	c.406G>A	671/1896	2	2			c.406G>A						3	SNP	c.(406-408)GTC>ATC	32	32			breast(1)	1	Broad	proline rich 23B			138739098		0.657	ENSG00000184814	12385	g.chr3:138739098C>T										95.454159	KEEP	16	17	-1	30	31	16	17	-1	96.758853	30	31	0.370787	1	0	0	0	0	1	0	0	0	--	--		0	T				12	GBM-06-0125-TP	p.V136I	C	AGCTCGACGACGACGTCCTCC	NM_001013650	NP_001013672	138739098	Q6ZRT6	PR23B_HUMAN	0			1	671	-	T	T			Missense_Mutation	136						
PRR23B	389151	broad.mit.edu	GRCh37	3	138739096	138739096	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5408-01	TCGA-06-5408-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329447.5:c.408C>T	p.Val136=	p.V136=	ENST00000329447	NM_001013650.2	136	gtC/gtT	0			1			A	V	uc003esy.1	protein_coding	YES	CCDS33868.1			408/798									breast(1)	1	c.(406-408)GTC>GTT			hmmpanther:PTHR31813,hmmpanther:PTHR31813:SF2,Pfam_domain:PF10630	proline rich 23B				ENSP00000328768		1-Jan									COSM3408282	1-Jan	.		ENST00000329447	Transcript						ENSG00000184814	g.chr3:138739096G>A	33764			LOW								--	--	1																																			1	1			p.V136V	NM_001013650	NP_001013672			1	PR23B_HUMAN	PRR23B	HGNC	Q6ZRT6	PR23B_HUMAN					1	673	-			UPI00001C0F1A	136					SNV	PRR23B,synonymous_variant,p.=,ENST00000329447,NM_001013650.2;MRPS22,intron_variant,,ENST00000495075,;	uc003esy.1	c.408C>T	673/1896	1	1			c.408C>T						3	SNP	c.(406-408)GTC>GTT	60	60			breast(1)	1	Broad	proline rich 23B			138739096		0.652	ENSG00000184814	12385	g.chr3:138739096G>A										158.117582	KEEP	26	30	-1	30	26	26	30	-1	158.117582	30	26	0.5	1	0	0	0	0	0	0	1	0	--	--		0	A				92	GBM-06-5408-TP	p.V136V	G	CCAGCTCGACGACGACGTCCT	NM_001013650	NP_001013672	138739096	Q6ZRT6	PR23B_HUMAN	0			1	673	-	A	A			Silent	136						
PRRC2B	0	broad.mit.edu	GRCh37	9	134350722	134350722	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01	TCGA-32-1970-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357304.4:c.3206G>A	p.Arg1069His	p.R1069H	ENST00000357304	NM_013318.3	1069	cGt/cAt	0	A:0.0003		1			A	R/H	uc004can.3	protein_coding	YES	CCDS48044.1			3206/6690										0	c.(3205-3207)CGT>CAT			Low_complexity_(Seg):seg,hmmpanther:PTHR14038:SF4,hmmpanther:PTHR14038	HLA-B associated transcript 2-like			A:0	ENSP00000349856		15/31									rs377155180,COSM3413394,COSM3413393	15/31	.		ENST00000357304	Transcript					protein binding	ENSG00000130723	g.chr9:134350722G>A	28121			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=PRC2B_HUMAN&rb=995&re=1194&var=R1069H	NA	getma.org/?cm=var&var=hg19,9,134350722,G,A&fts=all	R1069H	--	--	1																																		BAT2L1_uc010mzj.1_Missense_Mutation_p.R652H|BAT2L1_uc004cao.3_Missense_Mutation_p.R427H	0,1,1	1		benign(0.052)	p.R1069H	NM_013318	NP_037450		deleterious(0.01)	0,1,1	PRC2B_HUMAN	PRRC2B	HGNC	Q5JSZ5	PRC2B_HUMAN			Q5JSZ9_HUMAN,B4E3S7_HUMAN		15	3261	+			UPI00002374A3	1069					SNV	PRRC2B,missense_variant,p.Arg1069His,ENST00000357304,NM_013318.3;PRRC2B,5_prime_UTR_variant,,ENST00000372249,;PRRC2B,intron_variant,,ENST00000405995,;PRRC2B,intron_variant,,ENST00000458550,;PRRC2B,upstream_gene_variant,,ENST00000451855,;PRRC2B,downstream_gene_variant,,ENST00000422467,;PRRC2B,downstream_gene_variant,,ENST00000456307,;	uc004can.3	c.3206G>A	3261/11042	1	1			c.3206G>A						9	SNP	c.(3205-3207)CGT>CAT	57	57				0	Broad	HLA-B associated transcript 2-like			134350722		0.612	ENSG00000130723	1289	g.chr9:134350722G>A			protein binding							35.091213	KEEP	14	3	-1	19	36	14	3	-1	39.040566	19	36	0.238095	1	0	0	0	0	1	0	0	0	--	--		0	A			BAT2L1_uc010mzj.1_Missense_Mutation_p.R652H|BAT2L1_uc004cao.3_Missense_Mutation_p.R427H	228	GBM-32-1970-TP	p.R1069H	G	GGCCGGGGCCGTGGTTTCAGA	NM_013318	NP_037450	134350722	Q5JSZ5	PRC2B_HUMAN	0			15	3261	+	A	A			Missense_Mutation	1069						
PRRG4	79056	broad.mit.edu	GRCh37	11	32875008	32875008	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01	TCGA-06-2564-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257836.3:c.616C>T	p.Pro206Ser	p.P206S	ENST00000257836	NM_024081.5	206	Cca/Tca	0			1			T	P/S	uc001mtx.2	protein_coding	YES	CCDS7881.1			616/681										0	c.(616-618)CCA>TCA			hmmpanther:PTHR24251,hmmpanther:PTHR24251:SF15	proline rich Gla (G-carboxyglutamic acid) 4				ENSP00000257836		6-Jun									COSM2152957	6-Jun	.		ENST00000257836	Transcript				extracellular region|Golgi apparatus|integral to membrane	calcium ion binding	ENSG00000135378	g.chr11:32875008C>T	30799			MODERATE		2.61	medium	getma.org/?cm=msa&ty=f&p=TMG4_HUMAN&rb=108&re=224&var=P206S	NA	getma.org/?cm=var&var=hg19,11,32875008,C,T&fts=all	P206S	--	--	1																																			1	1		probably_damaging(0.998)	p.P206S	NM_024081	NP_076986		tolerated(0.1)	1	TMG4_HUMAN	PRRG4	HGNC	Q9BZD6	TMG4_HUMAN					6	869	+	Breast(20;0.206)		UPI000013707A	206			Cytoplasmic (Potential).|Poly-Pro.		SNV	PRRG4,missense_variant,p.Pro206Ser,ENST00000257836,NM_024081.5;	uc001mtx.2	c.616C>T	869/5530	2	2			c.616C>T						11	SNP	c.(616-618)CCA>TCA	30	30				0	Broad	proline rich Gla (G-carboxyglutamic acid) 4			32875008		0.438	ENSG00000135378	12397	g.chr11:32875008C>T		extracellular region|Golgi apparatus|integral to membrane	calcium ion binding							110.728883	KEEP	17	23	-1	36	38	17	23	-1	111.810243	36	38	0.387755	1	0	0	0	0	1	0	0	0	--	--		0	T				87	GBM-06-2564-TP	p.P206S	C	ACCACCACCACCATATCCTGG	NM_024081	NP_076986	32875008	Q9BZD6	TMG4_HUMAN	0			6	869	+	T	T	Breast(20;0.206)		Missense_Mutation	206			Cytoplasmic (Potential).|Poly-Pro.			
PRRT1	0	broad.mit.edu	GRCh37	6	32118160	32118160	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0789-01	TCGA-14-0789-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000211413.5:c.543C>T	p.Val181=	p.V181=	ENST00000211413	NM_030651.3	181	gtC/gtT	0			1			A	V	uc003nzt.2	protein_coding	YES	CCDS4739.1			543/921									breast(1)	1	c.(541-543)GTC>GTT			hmmpanther:PTHR14948,hmmpanther:PTHR14948:SF4	NG5 protein				ENSP00000211413		4-Feb									COSM3410975,COSM3410976	4-Feb	.		ENST00000211413	Transcript			response to biotic stimulus	integral to membrane		ENSG00000204314	g.chr6:32118160G>A	13943			LOW								--	--	1																																		PRRT1_uc003nzs.2_Silent_p.V222V|PRRT1_uc003nzu.2_Silent_p.L74L	1,1	1			p.V181V	NM_030651	NP_085154			1,1	PRRT1_HUMAN	PRRT1	HGNC	Q99946	PRRT1_HUMAN					2	659	-			UPI000012FFED	181					SNV	PRRT1,synonymous_variant,p.=,ENST00000211413,NM_030651.3;PRRT1,synonymous_variant,p.=,ENST00000375150,;PRRT1,synonymous_variant,p.=,ENST00000375152,;PPT2,upstream_gene_variant,,ENST00000324816,;PPT2,upstream_gene_variant,,ENST00000395523,;PPT2,upstream_gene_variant,,ENST00000375137,NM_005155.6,NM_001204103.1;PPT2,upstream_gene_variant,,ENST00000361568,NM_138717.2;PPT2,upstream_gene_variant,,ENST00000375143,;PPT2,upstream_gene_variant,,ENST00000445576,;PPT2,upstream_gene_variant,,ENST00000437001,;PPT2,upstream_gene_variant,,ENST00000414204,;PPT2,upstream_gene_variant,,ENST00000424499,;PRRT1,downstream_gene_variant,,ENST00000428778,;PRRT1,intron_variant,,ENST00000472641,;PRRT1,upstream_gene_variant,,ENST00000467780,;PPT2-EGFL8,upstream_gene_variant,,ENST00000453656,;PPT2,upstream_gene_variant,,ENST00000493548,;PRRT1,downstream_gene_variant,,ENST00000486917,;PPT2,upstream_gene_variant,,ENST00000478521,;PRRT1,downstream_gene_variant,,ENST00000485392,;PRRT1,downstream_gene_variant,,ENST00000498575,;PRRT1,downstream_gene_variant,,ENST00000497552,;PRRT1,downstream_gene_variant,,ENST00000475826,;PRRT1,downstream_gene_variant,,ENST00000494332,;PPT2,upstream_gene_variant,,ENST00000465047,;PRRT1,non_coding_transcript_exon_variant,,ENST00000495191,;PPT2-EGFL8,upstream_gene_variant,,ENST00000422437,;PPT2-EGFL8,upstream_gene_variant,,ENST00000428388,;PPT2-EGFL8,upstream_gene_variant,,ENST00000583227,;PPT2-EGFL8,upstream_gene_variant,,ENST00000585246,;PPT2,upstream_gene_variant,,ENST00000436118,;	uc003nzt.2	c.543C>T	668/1909	2	2			c.543C>T						6	SNP	c.(541-543)GTC>GTT	43	43			breast(1)	1	Broad	NG5 protein			32118160		0.667	ENSG00000204314	12398	g.chr6:32118160G>A	response to biotic stimulus	integral to membrane								47.282897	KEEP	11	8	-1	41	29	11	8	-1	52.139348	41	29	0.240506	1	0	0	0	0	0	0	1	0	--	--		0	A			PRRT1_uc003nzs.2_Silent_p.V222V|PRRT1_uc003nzu.2_Silent_p.L74L	136	GBM-14-0789-TP	p.V181V	G	CCACCGGGTAGACCGGCACGT	NM_030651	NP_085154	32118160	Q99946	PRRT1_HUMAN	0			2	659	-	A	A			Silent	181						
PRRT3	285368	broad.mit.edu	GRCh37	3	9989638	9989638	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5856-01	TCGA-06-5856-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000412055.1:c.1219C>T	p.Pro407Ser	p.P407S	ENST00000412055	NM_207351.3	407	Ccc/Tcc	0			1			A	P/S	uc003bul.2	nonsense_mediated_decay		CCDS43049.1			1219/2946										0	c.(1219-1221)CCC>TCC			hmmpanther:PTHR21712,hmmpanther:PTHR21712:SF27	proline-rich transmembrane protein 3 precursor				ENSP00000295984		5-Apr									COSM3408940	5-Apr	.		ENST00000295984	Transcript				integral to membrane		ENSG00000163704	g.chr3:9989638G>A	26591			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=PRRT3_HUMAN&rb=407&re=477&var=P407S	NA	getma.org/?cm=var&var=hg19,3,9989638,G,A&fts=all	P407S	--	--	1																																		CIDEC_uc003bto.2_Intron|PRRT3_uc003buk.2_RNA	1			probably_damaging(0.933)	p.P407S	NM_207351	NP_997234		deleterious(0.01)	1	PRRT3_HUMAN	PRRT3	HGNC	Q5FWE3	PRRT3_HUMAN					4	1349	-			UPI000019962A	407			Extracellular (Potential).|Pro-rich.		SNV	PRRT3,missense_variant,p.Pro407Ser,ENST00000412055,NM_207351.3;CRELD1,downstream_gene_variant,,ENST00000383811,NM_015513.4;CRELD1,downstream_gene_variant,,ENST00000326434,NM_001031717.3;CRELD1,downstream_gene_variant,,ENST00000452070,NM_001077415.2;CRELD1,downstream_gene_variant,,ENST00000397170,;PRRT3,downstream_gene_variant,,ENST00000411976,;CRELD1,downstream_gene_variant,,ENST00000435417,;PRRT3-AS1,intron_variant,,ENST00000431558,;CRELD1,downstream_gene_variant,,ENST00000489674,;PRRT3,missense_variant,p.Pro407Ser,ENST00000295984,;CRELD1,downstream_gene_variant,,ENST00000414117,;CRELD1,downstream_gene_variant,,ENST00000482691,;CRELD1,downstream_gene_variant,,ENST00000467713,;	uc003bul.2	c.1219C>T	1329/3368	2	2			c.1219C>T						3	SNP	c.(1219-1221)CCC>TCC	45	45				0	Broad	proline-rich transmembrane protein 3 precursor			9989638		0.607	ENSG00000163704	12400	g.chr3:9989638G>A		integral to membrane								10.763207	KEEP	2	4	-1	8	7	2	4	-1	11.56621	8	7	0.277778	1	0	0	0	0	1	0	0	0	--	--		0	A			CIDEC_uc003bto.2_Intron|PRRT3_uc003buk.2_RNA	101	GBM-06-5856-TP	p.P407S	G	TGGACTGGGGGTGCTGGGGGA	NM_207351	NP_997234	9989638	Q5FWE3	PRRT3_HUMAN	0			4	1349	-	A	A			Missense_Mutation	407			Extracellular (Potential).|Pro-rich.			
PRSS1	0	broad.mit.edu	GRCh37	7	142460295	142460295	+	synonymous_variant	Silent	SNP	C	C	T	rs146076691		TCGA-28-5214-01	TCGA-28-5214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311737.7:c.468C>T	p.Asp156=	p.D156=	ENST00000311737	NM_002769.4	156	gaC/gaT	0	T:0.0005	T:0.0008	1	T:0		T	D	uc003wak.2	protein_coding	YES	CCDS5872.1			468/744									large_intestine(1)|central_nervous_system(1)	2	c.(466-468)GAC>GAT			Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24264,hmmpanther:PTHR24264:SF12,SMART_domains:SM00020,Superfamily_domains:SSF50494	protease, serine, 1 preproprotein		T:0	T:0.0001	ENSP00000308720	T:0	5-Apr	0.000362	0.00154	8.64E-05			0.00018	0.0011	0.000727	rs146076691,COSM3411689	5-Apr	common_variant	Hereditary_Pancreatitis	ENST00000311737	Transcript	1	T:0.0002	digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	ENSG00000204983	g.chr7:142460295C>T	9475			LOW								--	--	1																																		uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc003wam.2_Silent_p.D96D	0,1	1			p.D156D	NM_002769	NP_002760	T:0		0,1	TRY1_HUMAN	PRSS1	HGNC	P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Q7Z445_HUMAN,Q53ZV8_HUMAN,H0Y8D1_HUMAN,A6XGL3_HUMAN		4	485	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	UPI0000001309	156			Peptidase S1.		SNV	PRSS1,synonymous_variant,p.=,ENST00000486171,;PRSS1,synonymous_variant,p.=,ENST00000311737,NM_002769.4;PRSS1,synonymous_variant,p.=,ENST00000492062,;PRSS1,non_coding_transcript_exon_variant,,ENST00000463701,;PRSS1,downstream_gene_variant,,ENST00000485223,;PRSS1,downstream_gene_variant,,ENST00000497041,;	uc003wak.2	c.468C>T	474/800	2	2			c.468C>T						7	SNP	c.(466-468)GAC>GAT	44	44			large_intestine(1)|central_nervous_system(1)	2	Broad	protease, serine, 1 preproprotein			142460295	Hereditary_Pancreatitis	0.507	ENSG00000204983	12403	g.chr7:142460295C>T	digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity							111.548315	KEEP	59	71	-1	441	426	59	71	-1	235.163755	441	426	0.118192	1	0	0	0	0	0	0	1	0	--	--		0	T			uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc003wam.2_Silent_p.D96D	221	GBM-28-5214-TP	p.D156D	C	ACTACCCAGACGAGCTGCAGT	NM_002769	NP_002760	142460295	P07477	TRY1_HUMAN	0	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		4	485	+	T	T	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	Silent	156			Peptidase S1.			
PRSS12	0	broad.mit.edu	GRCh37	4	119239641	119239641	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296498.3:c.1042C>T	p.Arg348Cys	p.R348C	ENST00000296498	NM_003619.3	348	Cgc/Tgc	0			1			A	R/C	uc003ica.1	protein_coding	YES	CCDS3709.1			1042/2628									skin(1)	1	c.(1042-1044)CGC>TGC			PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF19,Gene3D:3.10.250.10,Pfam_domain:PF00530,SMART_domains:SM00202,Superfamily_domains:SSF56487,Prints_domain:PR00258	neurotrypsin precursor				ENSP00000296498		13-May	7.41E-05			0.000116		0.000105		6.06E-05	rs780352056,COSM3409023	13-May	.		ENST00000296498	Transcript	1			membrane	scavenger receptor activity	ENSG00000164099	g.chr4:119239641G>A	9477			MODERATE		3.325	medium	getma.org/?cm=msa&ty=f&p=NETR_HUMAN&rb=283&re=380&var=R348C	getma.org/pdb.php?prot=NETR_HUMAN&from=283&to=380&var=R348C	getma.org/?cm=var&var=hg19,4,119239641,G,A&fts=all	R348C	--	--	1																																			0,1	1		possibly_damaging(0.849)	p.R348C	NM_003619	NP_003610		deleterious(0)	0,1	NETR_HUMAN	PRSS12	HGNC	P56730	NETR_HUMAN					5	1089	-			UPI000013E34B	348			SRCR 2.		SNV	PRSS12,missense_variant,p.Arg348Cys,ENST00000296498,NM_003619.3;PRSS12,non_coding_transcript_exon_variant,,ENST00000503043,;	uc003ica.1	c.1042C>T	1325/4809	1	1			c.1042C>T						4	SNP	c.(1042-1044)CGC>TGC	56	56			skin(1)	1	Broad	neurotrypsin precursor			119239641		0.478	ENSG00000164099	12404	g.chr4:119239641G>A		membrane	scavenger receptor activity							35.87024	KEEP	11	7	-1	25	43	11	7	-1	42.151226	25	43	0.205128	1	0	0	0	0	1	0	0	0	--	--		0	A				235	GBM-32-2491-TP	p.R348C	G	CCAGTGCAGCGTACTTCATCC	NM_003619	NP_003610	119239641	P56730	NETR_HUMAN	0			5	1089	-	A	A			Missense_Mutation	348			SRCR 2.			
PRSS16	0	broad.mit.edu	GRCh37	6	27222902	27222902	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-5958-01	TCGA-19-5958-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000230582.3:c.1468G>T	p.Gly490Trp	p.G490W	ENST00000230582	NM_005865.3	490	Ggg/Tgg	0			1			T	G/W	uc003nja.2	protein_coding	YES	CCDS4623.1			1468/1545									ovary(2)|central_nervous_system(2)|skin(1)	5	c.(1468-1470)GGG>TGG			hmmpanther:PTHR11010,hmmpanther:PTHR11010:SF22,Pfam_domain:PF05577	protease, serine, 16 precursor				ENSP00000230582		12-Nov									COSM2156814	12-Nov	.		ENST00000230582	Transcript			protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	ENSG00000112812	g.chr6:27222902G>T	9480			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=TSSP_HUMAN&rb=64&re=494&var=G490W	getma.org/pdb.php?prot=TSSP_HUMAN&from=64&to=494&var=G490W	getma.org/?cm=var&var=hg19,6,27222902,G,T&fts=all	G490W	--	--	1																																		PRSS16_uc011dkt.1_RNA|PRSS16_uc003njb.2_Missense_Mutation_p.G233W|PRSS16_uc003njd.2_RNA	1	1		possibly_damaging(0.84)	p.G490W	NM_005865	NP_005856		deleterious(0)	1	TSSP_HUMAN	PRSS16	HGNC	Q9NQE7	TSSP_HUMAN			Q7Z5N5_HUMAN		11	1480	+			UPI0000137773	490					SNV	PRSS16,missense_variant,p.Gly490Trp,ENST00000230582,NM_005865.3;PRSS16,missense_variant,p.Gly233Trp,ENST00000421826,;PRSS16,downstream_gene_variant,,ENST00000475106,;PRSS16,downstream_gene_variant,,ENST00000485993,;PRSS16,non_coding_transcript_exon_variant,,ENST00000377456,;PRSS16,non_coding_transcript_exon_variant,,ENST00000484493,;PRSS16,non_coding_transcript_exon_variant,,ENST00000468138,;PRSS16,non_coding_transcript_exon_variant,,ENST00000471463,;PRSS16,non_coding_transcript_exon_variant,,ENST00000478690,;PRSS16,non_coding_transcript_exon_variant,,ENST00000459736,;PRSS16,3_prime_UTR_variant,,ENST00000454665,;PRSS16,non_coding_transcript_exon_variant,,ENST00000485603,;PRSS16,non_coding_transcript_exon_variant,,ENST00000492575,;PRSS16,non_coding_transcript_exon_variant,,ENST00000488649,;PRSS16,non_coding_transcript_exon_variant,,ENST00000495683,;PRSS16,non_coding_transcript_exon_variant,,ENST00000481125,;PRSS16,downstream_gene_variant,,ENST00000470870,;PRSS16,downstream_gene_variant,,ENST00000462664,;PRSS16,downstream_gene_variant,,ENST00000468930,;PRSS16,downstream_gene_variant,,ENST00000466364,;	uc003nja.2	c.1468G>T	1483/2716	1	1			c.1468G>T						6	SNP	c.(1468-1470)GGG>TGG	5	5			ovary(2)|central_nervous_system(2)|skin(1)	5	Broad	protease, serine, 16 precursor			27222902		0.507	ENSG00000112812	12405	g.chr6:27222902G>T	protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	NSCLC(178;1118 2105 17078 23587 44429)			NSCLC(178;1118 2105 17078 23587 44429)			161.738292	KEEP	33	33	0.5	70	77	33	33	0.5	167.825772	70	77	0.310526	1	0	0	0	0	1	0	0	0	--	--		0	T			PRSS16_uc011dkt.1_RNA|PRSS16_uc003njb.2_Missense_Mutation_p.G233W|PRSS16_uc003njd.2_RNA	176	GBM-19-5958-TP	p.G490W	G	CCTCCGCCTAGGGCGCCAGGT	NM_005865	NP_005856	27222902	Q9NQE7	TSSP_HUMAN	0			11	1480	+	T	T			Missense_Mutation	490						
PRSS22	0	broad.mit.edu	GRCh37	16	2903295	2903295	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1977-01	TCGA-32-1977-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000161006.3:c.753C>T	p.Asp251=	p.D251=	ENST00000161006	NM_022119.3	251	gaC/gaT	0	A:0.0002		1			A	D	uc002cry.1	protein_coding	YES	CCDS10481.1			753/954									central_nervous_system(1)	1	c.(751-753)GAC>GAT			PROSITE_profiles:PS50240,hmmpanther:PTHR24253:SF6,hmmpanther:PTHR24253,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494	protease, serine, 22 precursor			A:0.0002	ENSP00000161006		6-Jun	0.0002	0.000158	0.000317			0.00035			rs377055758,COSM3402251	6-Jun	.		ENST00000161006	Transcript			proteolysis	extracellular region	serine-type endopeptidase activity	ENSG00000005001	g.chr16:2903295G>A	14368			LOW								--	--	1																																		PRSS22_uc002crz.1_Silent_p.D141D	0,1	1			p.D251D	NM_022119	NP_071402			0,1	BSSP4_HUMAN	PRSS22	HGNC	Q9GZN4	BSSP4_HUMAN					6	819	-			UPI0000126AFA	251			Peptidase S1.		SNV	PRSS22,synonymous_variant,p.=,ENST00000161006,NM_022119.3;PRSS22,synonymous_variant,p.=,ENST00000571228,;LA16c-325D7.1,upstream_gene_variant,,ENST00000577140,;PRSS22,downstream_gene_variant,,ENST00000574768,;PRSS22,downstream_gene_variant,,ENST00000577177,;PRSS22,non_coding_transcript_exon_variant,,ENST00000575164,;PRSS22,downstream_gene_variant,,ENST00000576381,;PRSS22,downstream_gene_variant,,ENST00000570950,;PRSS22,downstream_gene_variant,,ENST00000572061,;	uc002cry.1	c.753C>T	819/1386	2	2			c.753C>T						16	SNP	c.(751-753)GAC>GAT	43	43			central_nervous_system(1)	1	Broad	protease, serine, 22 precursor			2903295		0.711	ENSG00000005001	12408	g.chr16:2903295G>A	proteolysis	extracellular region	serine-type endopeptidase activity							9.157637	KEEP	3	3	-1	9	20	3	3	-1	11.459087	9	20	0.192308	1	0	0	0	0	0	0	1	0	--	--		0	A			PRSS22_uc002crz.1_Silent_p.D141D	229	GBM-32-1977-TP	p.D251D	G	GCCAGGCGCCGTCCACCTGGC	NM_022119	NP_071402	2903295	Q9GZN4	BSSP4_HUMAN	0			6	819	-	A	A			Silent	251			Peptidase S1.			
PRSS23	0	broad.mit.edu	GRCh37	11	86519032	86519032	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01	TCGA-06-6695-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000280258.5:c.347G>A	p.Arg116Gln	p.R116Q	ENST00000280258	NM_007173.4	116	cGa/cAa	0	A:0.0002		1			A	R/Q	uc001pcb.2	protein_coding	YES	CCDS8278.1			347/1152									central_nervous_system(1)|pancreas(1)	2	c.(346-348)CGA>CAA			Low_complexity_(Seg):seg,hmmpanther:PTHR15462,hmmpanther:PTHR15462:SF10	protease, serine, 23 precursor			A:0	ENSP00000280258		2-Feb	8.24E-06	9.70E-05							rs371463722,COSM3398178	2-Feb	.		ENST00000280258	Transcript			proteolysis	extracellular region|nucleus	serine-type endopeptidase activity	ENSG00000150687	g.chr11:86519032G>A	14370			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=PRS23_HUMAN&rb=1&re=143&var=R116Q	NA	getma.org/?cm=var&var=hg19,11,86519032,G,A&fts=all	R116Q	--	--	1																																		PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Missense_Mutation_p.R84Q	0,1	1		benign(0.001)	p.R116Q	NM_007173	NP_009104		tolerated(0.64)	0,1	PRS23_HUMAN	PRSS23	HGNC	O95084	PRS23_HUMAN			E9PRR2_HUMAN,B7ZB43_HUMAN		2	563	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	UPI0000048EBC	116					SNV	PRSS23,missense_variant,p.Arg116Gln,ENST00000280258,NM_007173.4;PRSS23,missense_variant,p.Arg84Gln,ENST00000441050,;PRSS23,missense_variant,p.Arg116Gln,ENST00000527521,;PRSS23,intron_variant,,ENST00000533902,;PRSS23,intron_variant,,ENST00000531475,;PRSS23,intron_variant,,ENST00000533880,;PRSS23,intron_variant,,ENST00000532234,;	uc001pcb.2	c.347G>A	772/4015	2	2			c.347G>A						11	SNP	c.(346-348)CGA>CAA	35	35			central_nervous_system(1)|pancreas(1)	2	Broad	protease, serine, 23 precursor			86519032		0.517	ENSG00000150687	12409	g.chr11:86519032G>A	proteolysis	extracellular region|nucleus	serine-type endopeptidase activity							78.956701	KEEP	15	18	-1	19	29	15	18	-1	79.552571	19	29	0.402778	1	0	0	0	0	1	0	0	0	--	--		0	A			PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Missense_Mutation_p.R84Q	110	GBM-06-6695-TP	p.R116Q	G	GCCCAACACCGAGACTCAGGG	NM_007173	NP_009104	86519032	O95084	PRS23_HUMAN	0			2	563	+	A	A		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	Missense_Mutation	116						
PRSS35	167681	broad.mit.edu	GRCh37	6	84234372	84234372	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0210-01	TCGA-06-0210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000536636.1:c.1212C>T	p.His404=	p.H404=	ENST00000536636	NM_001170423.1	404	caC/caT	0		T:0	1	T:0		T	H	uc003pjz.2	protein_coding		CCDS4999.1			1212/1242									ovary(1)	1	c.(1210-1212)CAC>CAT			hmmpanther:PTHR15462,hmmpanther:PTHR15462:SF7	protease, serine, 35 precursor		T:0		ENSP00000358714	T:0	2-Feb	0.000181			0.000117				0.00158	rs535446593,COSM2150700	2-Feb	common_variant		ENST00000369700	Transcript		T:0.0004	proteolysis	extracellular region	serine-type endopeptidase activity	ENSG00000146250	g.chr6:84234372C>T	21387			LOW								--	--	1																																		PRSS35_uc010kbm.2_Silent_p.H404H	0,1				p.H404H	NM_153362	NP_699193	T:0.002		0,1	PRS35_HUMAN	PRSS35	HGNC	Q8N3Z0	PRS35_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0768)			2	1375	+		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)	UPI000006D2C7	404			Peptidase S1.		SNV	PRSS35,synonymous_variant,p.=,ENST00000536636,NM_001170423.1;PRSS35,synonymous_variant,p.=,ENST00000369700,NM_153362.2;	uc003pjz.2	c.1212C>T	1389/2440	2	2			c.1212C>T						6	SNP	c.(1210-1212)CAC>CAT	33	33			ovary(1)	1	Broad	protease, serine, 35 precursor			84234372		0.512	ENSG00000146250	12413	g.chr6:84234372C>T	proteolysis	extracellular region	serine-type endopeptidase activity							63.968731	KEEP	13	15	-1	28	35	13	15	-1	66.683456	28	35	0.303797	1	0	0	0	0	0	0	1	0	--	--		0	T			PRSS35_uc010kbm.2_Silent_p.H404H	47	GBM-06-0210-TP	p.H404H	C	TCTGGATTCACGGGAACGATG	NM_153362	NP_699193	84234372	Q8N3Z0	PRS35_HUMAN	0		BRCA - Breast invasive adenocarcinoma(397;0.0768)	2	1375	+	T	T		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)	Silent	404			Peptidase S1.			
PRSS35	167681	broad.mit.edu	GRCh37	6	84233953	84233953	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0875-01	TCGA-06-0875-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000536636.1:c.793C>T	p.Arg265Ter	p.R265*	ENST00000536636	NM_001170423.1	265	Cga/Tga	0			1			T	R/*	uc003pjz.2	protein_coding		CCDS4999.1			793/1242									ovary(1)	1	c.(793-795)CGA>TGA			Gene3D:2.40.10.10,hmmpanther:PTHR15462,hmmpanther:PTHR15462:SF7,Superfamily_domains:SSF50494	protease, serine, 35 precursor				ENSP00000358714		2-Feb	8.24E-06	9.62E-05							rs773975931,COSM2152031	2-Feb	.		ENST00000369700	Transcript			proteolysis	extracellular region	serine-type endopeptidase activity	ENSG00000146250	g.chr6:84233953C>T	21387			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,6,84233953,C,T&fts=all	R265*	--	--	1																																		PRSS35_uc010kbm.2_Nonsense_Mutation_p.R265*	0,1				p.R265*	NM_153362	NP_699193			0,1	PRS35_HUMAN	PRSS35	HGNC	Q8N3Z0	PRS35_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0768)			2	956	+		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)	UPI000006D2C7	265			Peptidase S1.		SNV	PRSS35,stop_gained,p.Arg265Ter,ENST00000536636,NM_001170423.1;PRSS35,stop_gained,p.Arg265Ter,ENST00000369700,NM_153362.2;	uc003pjz.2	c.793C>T	970/2440	5	1			c.793C>T						6	SNP	c.(793-795)CGA>TGA	11	11			ovary(1)	1	Broad	protease, serine, 35 precursor			84233953		0.527	ENSG00000146250	12413	g.chr6:84233953C>T	proteolysis	extracellular region	serine-type endopeptidase activity							205.440045	KEEP	31	37	-1	36	40	31	37	-1	205.564835	36	40	0.468085	1	0	0	0	0	0	1	0	0	--	--		0	T			PRSS35_uc010kbm.2_Nonsense_Mutation_p.R265*	71	GBM-06-0875-TP	p.R265*	C	GGGCTGGGCACGAGGAGGCAT	NM_153362	NP_699193	84233953	Q8N3Z0	PRS35_HUMAN	0		BRCA - Breast invasive adenocarcinoma(397;0.0768)	2	956	+	T	T		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)	Nonsense_Mutation	265			Peptidase S1.			
PRSS36	0	broad.mit.edu	GRCh37	16	31159857	31159857	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01	TCGA-27-2523-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268281.4:c.412G>A	p.Ala138Thr	p.A138T	ENST00000268281	NM_173502.4	138	Gcc/Acc	0			1			T	A/T	uc002ebd.2	protein_coding	YES	CCDS32436.1			412/2568									ovary(1)	1	c.(412-414)GCC>ACC			Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF037933,Prints_domain:PR00722,PROSITE_profiles:PS50240,hmmpanther:PTHR24276,hmmpanther:PTHR24276:SF4,Low_complexity_(Seg):seg,SMART_domains:SM00020,Superfamily_domains:SSF50494	protease, serine, 36 precursor				ENSP00000268281		15-May									COSM3402296	15-May	.		ENST00000268281	Transcript			proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	ENSG00000178226	g.chr16:31159857C>T	26906			MODERATE		1.635	low	getma.org/?cm=msa&ty=f&p=POLS2_HUMAN&rb=47&re=286&var=A138T	getma.org/pdb.php?prot=POLS2_HUMAN&from=47&to=286&var=A138T	getma.org/?cm=var&var=hg19,16,31159857,C,T&fts=all	A138T	--	--	1																																		PRSS36_uc010vff.1_5'UTR|PRSS36_uc010vfg.1_Missense_Mutation_p.A138T|PRSS36_uc010vfh.1_Missense_Mutation_p.A138T	1	1		benign(0.025)	p.A138T	NM_173502	NP_775773		tolerated(0.08)	1	POLS2_HUMAN	PRSS36	HGNC	Q5K4E3	POLS2_HUMAN			B4DNP1_HUMAN		5	471	-			UPI00001FFF6A	138			Peptidase S1 1.		SNV	PRSS36,missense_variant,p.Ala138Thr,ENST00000268281,NM_173502.4,NM_001258290.1;PRSS36,missense_variant,p.Ala138Thr,ENST00000569305,;PRSS36,missense_variant,p.Ala138Thr,ENST00000418068,NM_001258291.1;PRSS36,non_coding_transcript_exon_variant,,ENST00000562368,;PRSS36,non_coding_transcript_exon_variant,,ENST00000569614,;PRSS36,downstream_gene_variant,,ENST00000562390,;PRSS36,downstream_gene_variant,,ENST00000561897,;	uc002ebd.2	c.412G>A	471/2840	2	2			c.412G>A						16	SNP	c.(412-414)GCC>ACC	19	19			ovary(1)	1	Broad	protease, serine, 36 precursor			31159857		0.756	ENSG00000178226	12414	g.chr16:31159857C>T	proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity							10.210251	KEEP	2	4	-1	5	5	2	4	-1	10.630502	5	5	0.307692	1	0	0	0	0	1	0	0	0	--	--		0	T			PRSS36_uc010vff.1_5'UTR|PRSS36_uc010vfg.1_Missense_Mutation_p.A138T|PRSS36_uc010vfh.1_Missense_Mutation_p.A138T	201	GBM-27-2523-TP	p.A138T	C	GCCAGGTCGGCGCCCAGCTCC	NM_173502	NP_775773	31159857	Q5K4E3	POLS2_HUMAN	0			5	471	-	T	T			Missense_Mutation	138			Peptidase S1 1.			
PRSS36	0	broad.mit.edu	GRCh37	16	31151818	31151818	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-4210-01	TCGA-32-4210-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268281.4:c.2162A>G	p.Asp721Gly	p.D721G	ENST00000268281	NM_173502.4	721	gAc/gGc	0			1			C	D/G	uc002ebd.2	protein_coding	YES	CCDS32436.1			2162/2568									ovary(1)	1	c.(2161-2163)GAC>GGC			Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF037933,PROSITE_profiles:PS50240,SMART_domains:SM00020,Superfamily_domains:SSF50494	protease, serine, 36 precursor				ENSP00000268281		13/15									COSM3402295	13/15	.		ENST00000268281	Transcript			proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	ENSG00000178226	g.chr16:31151818T>C	26906			MODERATE		0.59	neutral	getma.org/?cm=msa&ty=f&p=POLS2_HUMAN&rb=595&re=792&var=D721G	getma.org/pdb.php?prot=POLS2_HUMAN&from=595&to=792&var=D721G	getma.org/?cm=var&var=hg19,16,31151818,T,C&fts=all	D721G	--	--	1																																		PRSS36_uc010vff.1_Missense_Mutation_p.D496G|PRSS36_uc010vfg.1_Missense_Mutation_p.D716G|PRSS36_uc010vfh.1_Intron	1	1		benign(0.422)	p.D721G	NM_173502	NP_775773		tolerated(0.19)	1	POLS2_HUMAN	PRSS36	HGNC	Q5K4E3	POLS2_HUMAN			B4DNP1_HUMAN		13	2221	-			UPI00001FFF6A	721			Peptidase S1 3.		SNV	PRSS36,missense_variant,p.Asp721Gly,ENST00000268281,NM_173502.4,NM_001258290.1;PRSS36,missense_variant,p.Asp716Gly,ENST00000569305,;PRSS36,intron_variant,,ENST00000418068,NM_001258291.1;PRSS8,upstream_gene_variant,,ENST00000317508,NM_002773.3;PRSS8,upstream_gene_variant,,ENST00000568261,;PRSS8,upstream_gene_variant,,ENST00000567531,;PRSS8,upstream_gene_variant,,ENST00000567797,;PRSS36,non_coding_transcript_exon_variant,,ENST00000562368,;PRSS36,intron_variant,,ENST00000571878,;PRSS8,upstream_gene_variant,,ENST00000567833,;PRSS36,downstream_gene_variant,,ENST00000563693,;PRSS8,upstream_gene_variant,,ENST00000564025,;	uc002ebd.2	c.2162A>G	2221/2840	3	3			c.2162A>G						16	SNP	c.(2161-2163)GAC>GGC	1	1			ovary(1)	1	Broad	protease, serine, 36 precursor			31151818		0.667	ENSG00000178226	12414	g.chr16:31151818T>C	proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity							176.554878	KEEP	24	33	-1	11	25	24	33	-1	177.231419	11	25	0.597561	1	0	0	0	0	1	0	0	0	--	--		0	C			PRSS36_uc010vff.1_Missense_Mutation_p.D496G|PRSS36_uc010vfg.1_Missense_Mutation_p.D716G|PRSS36_uc010vfh.1_Intron	245	GBM-32-4210-TP	p.D721G	T	CTCACCTCGGTCCTGGGGTTC	NM_173502	NP_775773	31151818	Q5K4E3	POLS2_HUMAN	0			13	2221	-	C	C			Missense_Mutation	721			Peptidase S1 3.			
PRSS36	146547		GRCh37	16	31151619	31151619	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000268281.4:c.2285G>T	p.Cys762Phe	p.C762F	ENST00000268281	NM_173502.4	762	tGt/tTt	0																																																																																																																																																																																																																																												
PRSS38	0	broad.mit.edu	GRCh37	1	228004940	228004940	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-4157-01	TCGA-14-4157-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366757.3:c.342C>T	p.Tyr114=	p.Y114=	ENST00000366757	NM_183062.2	114	taC/taT	0			1			T	Y	uc001hrh.2	protein_coding	YES	CCDS1563.1			342/981									ovary(1)|pancreas(1)	2	c.(340-342)TAC>TAT			PROSITE_profiles:PS50240,hmmpanther:PTHR24266:SF4,hmmpanther:PTHR24266,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	marapsin 2 precursor				ENSP00000355719		5-Mar									COSM1962640	5-Mar	.		ENST00000366757	Transcript			proteolysis	extracellular region	serine-type endopeptidase activity	ENSG00000185888	g.chr1:228004940C>T	29625			LOW								--	--	1																																			1	1			p.Y114Y	NM_183062	NP_898885			1	PRS38_HUMAN	PRSS38	HGNC	A1L453	PRS38_HUMAN					3	342	+			UPI00001BBB34	114			Peptidase S1.		SNV	PRSS38,synonymous_variant,p.=,ENST00000366757,NM_183062.2;	uc001hrh.2	c.342C>T	366/1267	1	1			c.342C>T						1	SNP	c.(340-342)TAC>TAT	7	7			ovary(1)|pancreas(1)	2	Broad	marapsin 2 precursor			228004940		0.562	ENSG00000185888	12416	g.chr1:228004940C>T	proteolysis	extracellular region	serine-type endopeptidase activity							-24.28132	KEEP	1	4	-1	52	79	1	4	-1	6.611965	52	79	0.02439	1	0	0	0	0	0	0	1	0	--	--		0	T				152	GBM-14-4157-TP	p.Y114Y	C	ATGACATGTACGTAGGCCTCG	NM_183062	NP_898885	228004940	A1L453	PRS38_HUMAN	0			3	342	+	T	T			Silent	114			Peptidase S1.			
PRSS3P1	168330		GRCh37	7	142468304	142468305	+	splice_donor_variant,non_coding_transcript_variant	Splice_Site	INS	-	-	TA			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000503996.1:n.40+1_40+2insTA		p.X14_splice	ENST00000503996		14		0																																																																																																																																																																																																																																												
PRSS3P2	154754		GRCh37	7	142481845	142481845	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000507847.2:n.524A>G		p.*175*	ENST00000507847				0																																																																																																																																																																																																																																												
PRSS48	345062	broad.mit.edu	GRCh37	4	152203364	152203364	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01	TCGA-06-0645-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000455694.2:c.280C>T	p.Arg94Cys	p.R94C	ENST00000455694	NM_183375.2	94	Cgt/Tgt	0			1			T	R/C	uc011cif.1	protein_coding	YES	CCDS47145.1			280/987									large_intestine(1)	1	c.(280-282)CGT>TGT			PROSITE_profiles:PS50240,hmmpanther:PTHR24273,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	epidermis-specific serine protease-like protein				ENSP00000401328		5-Mar	8.27E-06	0.000102							rs778594353,COSM2151281,COSM2151280	5-Mar	.		ENST00000455694	Transcript			proteolysis	extracellular region	serine-type endopeptidase activity	ENSG00000189099	g.chr4:152203364C>T	24635			MODERATE		0.885	low	getma.org/?cm=msa&ty=f&p=PRS48_HUMAN&rb=28&re=262&var=R94C	getma.org/pdb.php?prot=PRS48_HUMAN&from=28&to=262&var=R94C	getma.org/?cm=var&var=hg19,4,152203364,C,T&fts=all	R94C	--	--	1																																		PRSS48_uc011cig.1_Intron	0,1,1	1		benign(0.339)	p.R94C	NM_183375	NP_899231		deleterious(0.03)	0,1,1	PRS48_HUMAN	PRSS48	HGNC	Q7RTY5	PRS48_HUMAN					3	280	+			UPI0000047B08	94			Peptidase S1.		SNV	PRSS48,missense_variant,p.Arg94Cys,ENST00000455694,NM_183375.2;PRSS48,intron_variant,,ENST00000441586,;SH3D19,intron_variant,,ENST00000604030,;RP11-731D1.3,upstream_gene_variant,,ENST00000507181,;	uc011cif.1	c.280C>T	282/989	1	1			c.280C>T						4	SNP	c.(280-282)CGT>TGT	12	12			large_intestine(1)	1	Broad	epidermis-specific serine protease-like protein			152203364		0.473	ENSG00000189099	12419	g.chr4:152203364C>T	proteolysis	extracellular region	serine-type endopeptidase activity							180.889346	KEEP	42	37	-1	124	106	42	37	-1	196.852071	124	106	0.250883	1	0	0	0	0	1	0	0	0	--	--		0	T			PRSS48_uc011cig.1_Intron	59	GBM-06-0645-TP	p.R94C	C	CTCAAGGAAACGTGTGAAGTA	NM_183375	NP_899231	152203364	Q7RTY5	PRS48_HUMAN	0			3	280	+	T	T			Missense_Mutation	94			Peptidase S1.			
PRSS50	0	broad.mit.edu	GRCh37	3	46759087	46759087	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-12-0821-01	TCGA-12-0821-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315170.7:c.147T>G	p.Thr49=	p.T49=	ENST00000315170	NM_013270.4	49	acT/acG	0			1			C	T	uc003cqe.1	protein_coding		CCDS2745.1			147/1158										0	c.(145-147)ACT>ACG				testes-specific protease 50 precursor				ENSP00000326598		6-Feb									COSM3408693	6-Feb	.		ENST00000315170	Transcript			proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	ENSG00000206549	g.chr3:46759087A>C	17910			LOW								--	--	1																																		PRSS50_uc003cqf.1_Intron	1				p.T49T	NM_013270	NP_037402			1	TSP50_HUMAN	PRSS50	HGNC	Q9UI38	TSP50_HUMAN			B3KUP4_HUMAN		2	206	-			UPI0000037465	49					SNV	PRSS50,synonymous_variant,p.=,ENST00000460241,;PRSS50,synonymous_variant,p.=,ENST00000315170,NM_013270.4;PRSS46,downstream_gene_variant,,ENST00000463091,NM_001205271.1;	uc003cqe.1	c.147T>G	147/1289	3	3			c.147T>G						3	SNP	c.(145-147)ACT>ACG	1	1				0	Broad	testes-specific protease 50 precursor			46759087		0.706	ENSG00000206549	12420	g.chr3:46759087A>C	proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	Pancreas(41;915 1239 11561 17469)			Pancreas(41;915 1239 11561 17469)			98.949687	KEEP	28	12	-1	33	23	28	12	-1	99.316629	33	23	0.430233	1	0	0	0	0	0	0	1	0	--	--		0	C			PRSS50_uc003cqf.1_Intron	123	GBM-12-0821-TP	p.T49T	A	CGGGATCAGCAGTGGACAGCG	NM_013270	NP_037402	46759087	Q9UI38	TSP50_HUMAN	0			2	206	-	C	C			Silent	49						
PRSS55	0	broad.mit.edu	GRCh37	8	10390524	10390524	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328655.3:c.707C>T	p.Ala236Val	p.A236V	ENST00000328655	NM_198464.3	236	gCc/gTc	0			1			T	A/V	uc003wta.2	protein_coding	YES	CCDS5976.1			707/1059									ovary(1)	1	c.(706-708)GCC>GTC			PROSITE_profiles:PS50240,hmmpanther:PTHR24265:SF35,hmmpanther:PTHR24265,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	hypothetical protein LOC203074 precursor				ENSP00000333003		5-Apr									COSM3269666	5-Apr	.		ENST00000328655	Transcript			proteolysis	integral to membrane	serine-type endopeptidase activity	ENSG00000184647	g.chr8:10390524C>T	30824			MODERATE		1.68	low	getma.org/?cm=msa&ty=f&p=PRS55_HUMAN&rb=68&re=295&var=A236V	getma.org/pdb.php?prot=PRS55_HUMAN&from=68&to=295&var=A236V	getma.org/?cm=var&var=hg19,8,10390524,C,T&fts=all	A236V	--	--	1																																		uc010lru.2_Intron|PRSS55_uc003wtb.2_RNA	1	1		probably_damaging(0.936)	p.A236V	NM_198464	NP_940866		tolerated(0.05)	1	PRS55_HUMAN	PRSS55	HGNC	Q6UWB4	PRS55_HUMAN					4	722	+			UPI0000160C84	236			Extracellular (Potential).|Peptidase S1.		SNV	PRSS55,missense_variant,p.Ala236Val,ENST00000328655,NM_198464.3;PRSS55,missense_variant,p.Ala236Val,ENST00000522210,NM_001197020.1;PRSS51,intron_variant,,ENST00000523024,;PRSS55,3_prime_UTR_variant,,ENST00000518641,;	uc003wta.2	c.707C>T	747/1124	1	1			c.707C>T						8	SNP	c.(706-708)GCC>GTC	12	12			ovary(1)	1	Broad	hypothetical protein LOC203074 precursor			10390524		0.483	ENSG00000184647	12423	g.chr8:10390524C>T	proteolysis	integral to membrane	serine-type endopeptidase activity							-17.431154	KEEP	1	4	-1	64	64	1	4	-1	9.668764	64	64	0.041667	1	0	0	0	0	1	0	0	0	--	--		0	T			uc010lru.2_Intron|PRSS55_uc003wtb.2_RNA	139	GBM-14-0817-TP	p.A236V	C	ATGCTGTGTGCCGGATACAAG	NM_198464	NP_940866	10390524	Q6UWB4	PRS55_HUMAN	0			4	722	+	T	T			Missense_Mutation	236			Extracellular (Potential).|Peptidase S1.			
PRSS55	203074		GRCh37	8	10396129	10396129	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000328655.3:c.885C>T	p.Ile295=	p.I295=	ENST00000328655	NM_198464.3	295	atC/atT	0																																																																																																																																																																																																																																												
PRSS58	0	broad.mit.edu	GRCh37	7	141954883	141954883	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01	TCGA-32-2491-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000547058.2:c.428G>A	p.Cys143Tyr	p.C143Y	ENST00000547058	NM_001001317.3	143	tGt/tAt	0			1			T	C/Y	uc003vxb.2	protein_coding		CCDS5871.1			428/726										0	c.(427-429)TGT>TAT			Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24275,hmmpanther:PTHR24275:SF46,SMART_domains:SM00020,Superfamily_domains:SSF50494	trypsin X3 precursor				ENSP00000447588		6-Apr									COSM3411687	6-Apr	.		ENST00000547058	Transcript			proteolysis	extracellular region	serine-type endopeptidase activity	ENSG00000258223	g.chr7:141954883C>T	39125			MODERATE		-1.06	neutral	getma.org/?cm=msa&ty=f&p=PRS58_HUMAN&rb=21&re=234&var=C143Y	getma.org/pdb.php?prot=PRS58_HUMAN&from=21&to=234&var=C143Y	getma.org/?cm=var&var=hg19,7,141954883,C,T&fts=all	C143Y	--	--	1																																		TRYX3_uc003vxc.3_Missense_Mutation_p.C143Y	1			probably_damaging(0.951)	p.C143Y	NM_001001317	NP_001001317		tolerated(0.42)	1	PRS58_HUMAN	PRSS58	HGNC	Q8IYP2	PRS58_HUMAN					3	748	-	Melanoma(164;0.0272)		UPI000004C649	143			Peptidase S1.		SNV	PRSS58,missense_variant,p.Cys143Tyr,ENST00000552471,;PRSS58,missense_variant,p.Cys143Tyr,ENST00000547058,NM_001001317.3;	uc003vxb.2	c.428G>A	537/913	1	1			c.428G>A						7	SNP	c.(427-429)TGT>TAT	15	15				0	Broad	trypsin X3 precursor			141954883		0.433	ENSG00000258223	16354	g.chr7:141954883C>T	proteolysis	extracellular region	serine-type endopeptidase activity							152.080545	KEEP	43	39	-1	150	177	43	39	-1	181.619991	150	177	0.201681	1	0	0	0	0	1	0	0	0	--	--		0	T			TRYX3_uc003vxc.3_Missense_Mutation_p.C143Y	235	GBM-32-2491-TP	p.C143Y	C	ACAGATATCACACACATTGTA	NM_001001317	NP_001001317	141954883	Q8IYP2	PRS58_HUMAN	0			3	748	-	T	T	Melanoma(164;0.0272)		Missense_Mutation	143			Peptidase S1.			
PRUNE2	158471	broad.mit.edu	GRCh37	9	79469120	79469120	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01	TCGA-06-0188-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376718.3:c.41G>A	p.Arg14Gln	p.R14Q	ENST00000376718	NM_015225.2	14	cGa/cAa	0			1			T	R/Q	uc010mpk.2	protein_coding	YES	CCDS47982.1			41/9267										0	c.(40-42)CGA>CAA			hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112	prune homolog 2				ENSP00000365908		19-Feb	2.47E-05	0.000296							rs745663522,COSM2150590,COSM2150589	19-Feb	.		ENST00000376718	Transcript			apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	ENSG00000106772	g.chr9:79469120C>T	25209			MODERATE		1.6	low	getma.org/?cm=msa&ty=f&p=PRUN2_HUMAN&rb=1&re=200&var=R14Q	NA	getma.org/?cm=var&var=hg19,9,79469120,C,T&fts=all	R14Q	--	--	1																																		PRUNE2_uc004akn.2_Missense_Mutation_p.R14Q	0,1,1	1		probably_damaging(0.992)	p.R14Q	NM_015225	NP_056040		deleterious(0)	0,1,1	PRUN2_HUMAN	PRUNE2	HGNC	Q8WUY3	PRUN2_HUMAN					2	165	-			UPI0001612CC0	14					SNV	PRUNE2,missense_variant,p.Arg14Gln,ENST00000376718,NM_015225.2;PRUNE2,missense_variant,p.Arg14Gln,ENST00000376713,;PRUNE2,5_prime_UTR_variant,,ENST00000428286,;PRUNE2,non_coding_transcript_exon_variant,,ENST00000492157,;PRUNE2,non_coding_transcript_exon_variant,,ENST00000489555,;	uc010mpk.2	c.41G>A	165/12584	2	2			c.41G>A						9	SNP	c.(40-42)CGA>CAA	28	28				0	Broad	prune homolog 2			79469120		0.323	ENSG00000106772	12430	g.chr9:79469120C>T	apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity							67.867964	KEEP	12	16	-1	32	38	12	16	-1	71.077169	32	38	0.294118	1	0	0	0	0	1	0	0	0	--	--		0	T			PRUNE2_uc004akn.2_Missense_Mutation_p.R14Q	41	GBM-06-0188-TP	p.R14Q	C	GCGTTTGCTTCGATTCTGAAA	NM_015225	NP_056040	79469120	Q8WUY3	PRUN2_HUMAN	0			2	165	-	T	T			Missense_Mutation	14						
PRUNE2	0	broad.mit.edu	GRCh37	9	79321219	79321219	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-4209-01	TCGA-32-4209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376718.3:c.5971G>C	p.Glu1991Gln	p.E1991Q	ENST00000376718	NM_015225.2	1991	Gaa/Caa	0			1			G	E/Q	uc010mpk.2	protein_coding	YES	CCDS47982.1			5971/9267										0	c.(5971-5973)GAA>CAA			hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112	prune homolog 2				ENSP00000365908		19-Aug									COSM3413733	19-Aug	.		ENST00000376718	Transcript			apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	ENSG00000106772	g.chr9:79321219C>G	25209			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=PRUN2_HUMAN&rb=1192&re=2780&var=E1991Q	NA	getma.org/?cm=var&var=hg19,9,79321219,C,G&fts=all	E1991Q	--	--	1																																		PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank	1	1		possibly_damaging(0.804)	p.E1991Q	NM_015225	NP_056040		tolerated(0.27)	1	PRUN2_HUMAN	PRUNE2	HGNC	Q8WUY3	PRUN2_HUMAN					8	6095	-			UPI0001612CC0	1991					SNV	PRUNE2,missense_variant,p.Glu1632Gln,ENST00000428286,;PRUNE2,missense_variant,p.Glu1991Gln,ENST00000376718,NM_015225.2;PRUNE2,missense_variant,p.Glu1313Gln,ENST00000426088,;PRUNE2,upstream_gene_variant,,ENST00000480674,;	uc010mpk.2	c.5971G>C	6095/12584	3	3			c.5971G>C						9	SNP	c.(5971-5973)GAA>CAA	64	64				0	Broad	prune homolog 2			79321219		0.423	ENSG00000106772	12430	g.chr9:79321219C>G	apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity							-28.910013	KEEP	0	3	-1	60	81	0	3	-1	7.518338	60	81	0.021127	1	0	0	0	0	1	0	0	0	--	--		0	G			PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank	244	GBM-32-4209-TP	p.E1991Q	C	TCTTGACCTTCATTAGTTGAA	NM_015225	NP_056040	79321219	Q8WUY3	PRUN2_HUMAN	0			8	6095	-	G	G			Missense_Mutation	1991						
PRUNE2	158471		GRCh37	9	79324782	79324782	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000376718.3:c.2408T>A	p.Phe803Tyr	p.F803Y	ENST00000376718	NM_015225.2	803	tTt/tAt	0																																																																																																																																																																																																																																												
PRX	0	broad.mit.edu	GRCh37	19	40902798	40902798	+	synonymous_variant	Silent	SNP	C	C	T	rs140474860		TCGA-12-0688-01	TCGA-12-0688-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324001.7:c.1461G>A	p.Pro487=	p.P487=	ENST00000324001	NM_181882.2	487	ccG/ccA	0			1			T	P	uc002onr.2	protein_coding	YES	CCDS33028.1			1461/4386									ovary(2)	2	c.(1459-1461)CCG>CCA			hmmpanther:PTHR23348:SF39,hmmpanther:PTHR23348	periaxin isoform 2				ENSP00000326018		7-Jul	6.59E-05	0.000105		0.000116		6.13E-05		0.000121	rs757009052,COSM3225591	7-Jul	.		ENST00000324001	Transcript	1		axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	ENSG00000105227	g.chr19:40902798C>T	13797			LOW								--	--	1																																		PRX_uc002onq.2_Silent_p.P348P|PRX_uc002ons.2_3'UTR	0,1	1			p.P487P	NM_181882	NP_870998			0,1	PRAX_HUMAN	PRX	HGNC	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)				7	1730	-			UPI000044CC1A	487			9.|55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		SNV	PRX,synonymous_variant,p.=,ENST00000324001,NM_181882.2;PRX,3_prime_UTR_variant,,ENST00000291825,NM_020956.2;	uc002onr.2	c.1461G>A	1732/4855	2	2			c.1461G>A						19	SNP	c.(1459-1461)CCG>CCA	34	34			ovary(2)	2	Broad	periaxin isoform 2			40902798		0.597	ENSG00000105227	12431	g.chr19:40902798C>T	axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding							-76.842346	KEEP	8	2	-1	292	205	8	2	-1	13.885308	292	205	0.024862	1	0	0	0	0	0	0	1	0	--	--		0	T			PRX_uc002onq.2_Silent_p.P348P|PRX_uc002ons.2_3'UTR	121	GBM-12-0688-TP	p.P487P	C	GCCGCACCTCCGGCACAGCCA	NM_181882	NP_870998	40902798	Q9BXM0	PRAX_HUMAN	0	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	1730	-	T	T			Silent	487			9.|55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].			
PRX	0	broad.mit.edu	GRCh37	19	40903183	40903183	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324001.7:c.1076G>A	p.Arg359His	p.R359H	ENST00000324001	NM_181882.2	359	cGc/cAc	0			1			T	R/H	uc002onr.2	protein_coding	YES	CCDS33028.1			1076/4386									ovary(2)	2	c.(1075-1077)CGC>CAC			hmmpanther:PTHR23348:SF39,hmmpanther:PTHR23348	periaxin isoform 2				ENSP00000326018		7-Jul	1.65E-05	0.000108		0.000117					rs759512054,COSM2154744	7-Jul	.		ENST00000324001	Transcript	1		axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	ENSG00000105227	g.chr19:40903183C>T	13797			MODERATE		1.525	low	getma.org/?cm=msa&ty=f&p=PRAX_HUMAN&rb=201&re=400&var=R359H	NA	getma.org/?cm=var&var=hg19,19,40903183,C,T&fts=all	R359H	--	--	1																																		PRX_uc002onq.2_Missense_Mutation_p.R220H|PRX_uc002ons.2_3'UTR	0,1	1		benign(0.068)	p.R359H	NM_181882	NP_870998		tolerated(0.07)	0,1	PRAX_HUMAN	PRX	HGNC	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)				7	1345	-			UPI000044CC1A	359					SNV	PRX,missense_variant,p.Arg359His,ENST00000324001,NM_181882.2;PRX,3_prime_UTR_variant,,ENST00000291825,NM_020956.2;	uc002onr.2	c.1076G>A	1347/4855	1	1			c.1076G>A						19	SNP	c.(1075-1077)CGC>CAC	9	9			ovary(2)	2	Broad	periaxin isoform 2			40903183		0.637	ENSG00000105227	12431	g.chr19:40903183C>T	axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding							131.671789	KEEP	23	27	-1	37	51	23	27	-1	133.463074	37	51	0.373016	1	0	0	0	0	1	0	0	0	--	--		0	T			PRX_uc002onq.2_Missense_Mutation_p.R220H|PRX_uc002ons.2_3'UTR	138	GBM-14-0813-TP	p.R359H	C	AAAACTAAGGCGGGGCATCTT	NM_181882	NP_870998	40903183	Q9BXM0	PRAX_HUMAN	0	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	1345	-	T	T			Missense_Mutation	359						
PRX	0	broad.mit.edu	GRCh37	19	40901148	40901148	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-32-2491-01	TCGA-32-2491-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324001.7:c.3111A>G	p.Glu1037=	p.E1037=	ENST00000324001	NM_181882.2	1037	gaA/gaG	0			1			C	E	uc002onr.2	protein_coding	YES	CCDS33028.1			3111/4386									ovary(2)	2	c.(3109-3111)GAA>GAG			hmmpanther:PTHR23348:SF39,hmmpanther:PTHR23348	periaxin isoform 2				ENSP00000326018		7-Jul									COSM3404237	7-Jul	.		ENST00000324001	Transcript	1		axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	ENSG00000105227	g.chr19:40901148T>C	13797			LOW								--	--	1																																		PRX_uc002onq.2_Silent_p.E898E|PRX_uc002ons.2_3'UTR	1	1			p.E1037E	NM_181882	NP_870998			1	PRAX_HUMAN	PRX	HGNC	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)				7	3380	-			UPI000044CC1A	1037					SNV	PRX,synonymous_variant,p.=,ENST00000324001,NM_181882.2;PRX,3_prime_UTR_variant,,ENST00000291825,NM_020956.2;	uc002onr.2	c.3111A>G	3382/4855	4	4			c.3111A>G						19	SNP	c.(3109-3111)GAA>GAG	42	42			ovary(2)	2	Broad	periaxin isoform 2			40901148		0.627	ENSG00000105227	12431	g.chr19:40901148T>C	axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding							-7.931483	KEEP	0	4	-1	28	51	0	4	-1	7.193563	28	51	0.044118	1	0	0	0	0	0	0	1	0	--	--		0	C			PRX_uc002onq.2_Silent_p.E898E|PRX_uc002ons.2_3'UTR	235	GBM-32-2491-TP	p.E1037E	T	CTGGCACTAGTTCTGCTGCCT	NM_181882	NP_870998	40901148	Q9BXM0	PRAX_HUMAN	0	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	3380	-	C	C			Silent	1037						
PRX	0	broad.mit.edu	GRCh37	19	40902416	40902416	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6191-01	TCGA-76-6191-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324001.7:c.1843G>A	p.Asp615Asn	p.D615N	ENST00000324001	NM_181882.2	615	Gat/Aat	0	T:0		1			T	D/N	uc002onr.2	protein_coding	YES	CCDS33028.1			1843/4386									ovary(2)	2	c.(1843-1845)GAT>AAT			hmmpanther:PTHR23348:SF39,hmmpanther:PTHR23348	periaxin isoform 2			T:0.0001	ENSP00000326018		7-Jul									rs377037656	7-Jul	.		ENST00000324001	Transcript	1		axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	ENSG00000105227	g.chr19:40902416C>T	13797			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=PRAX_HUMAN&rb=601&re=800&var=D615N	NA	getma.org/?cm=var&var=hg19,19,40902416,C,T&fts=all	D615N	--	--	1																																		PRX_uc002onq.2_Missense_Mutation_p.D476N|PRX_uc002ons.2_3'UTR		1		possibly_damaging(0.741)	p.D615N	NM_181882	NP_870998		tolerated(0.18)		PRAX_HUMAN	PRX	HGNC	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)				7	2112	-			UPI000044CC1A	615			29.|55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		SNV	PRX,missense_variant,p.Asp615Asn,ENST00000324001,NM_181882.2;PRX,3_prime_UTR_variant,,ENST00000291825,NM_020956.2;	uc002onr.2	c.1843G>A	2114/4855	2	2			c.1843G>A						19	SNP	c.(1843-1845)GAT>AAT	47	47			ovary(2)	2	Broad	periaxin isoform 2			40902416		0.552	ENSG00000105227	12431	g.chr19:40902416C>T	axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding							316.099782	KEEP	61	46	-1	84	58	61	46	-1	316.742465	84	58	0.443478	1	0	0	0	0	1	0	0	0	--	--		0	T			PRX_uc002onq.2_Missense_Mutation_p.D476N|PRX_uc002ons.2_3'UTR	274	GBM-76-6191-TP	p.D615N	C	AGGTGCACATCGGGCACGGCC	NM_181882	NP_870998	40902416	Q9BXM0	PRAX_HUMAN	0	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	2112	-	T	T			Missense_Mutation	615			29.|55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].			
PSAT1	29968	broad.mit.edu	GRCh37	9	80921319	80921319	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0139-01	TCGA-06-0139-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376588.3:c.487G>A	p.Asp163Asn	p.D163N	ENST00000376588	NM_058179.3	163	Gac/Aac	0			1			A	D/N	uc004ala.2	protein_coding	YES	CCDS6660.1			487/1113									ovary(1)	1	c.(487-489)GAC>AAC			Gene3D:3.40.640.10,HAMAP:MF_00160,Pfam_domain:PF00266,PIRSF_domain:PIRSF000525,hmmpanther:PTHR21152,hmmpanther:PTHR21152:SF17,Superfamily_domains:SSF53383,TIGRFAM_domain:TIGR01364	phosphoserine aminotransferase 1 isoform 1	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)			ENSP00000365773		9-May									COSM3413746	9-May	.		ENST00000376588	Transcript	1		L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	ENSG00000135069	g.chr9:80921319G>A	19129			MODERATE		0.67	neutral	getma.org/?cm=msa&ty=f&p=SERC_HUMAN&rb=7&re=357&var=D163N	getma.org/pdb.php?prot=SERC_HUMAN&from=7&to=357&var=D163N	getma.org/?cm=var&var=hg19,9,80921319,G,A&fts=all	D163N	--	--	1																																		PSAT1_uc004alb.2_Missense_Mutation_p.D163N	1	1		benign(0.002)	p.D163N	NM_058179	NP_478059		tolerated(0.47)	1	SERC_HUMAN	PSAT1	HGNC	Q9Y617	SERC_HUMAN			B4DHQ3_HUMAN,A9LS35_HUMAN		5	555	+			UPI0000001C03	163					SNV	PSAT1,missense_variant,p.Asp163Asn,ENST00000376588,NM_058179.3;PSAT1,missense_variant,p.Asp163Asn,ENST00000347159,NM_021154.4;	uc004ala.2	c.487G>A	555/2188	2	2			c.487G>A						9	SNP	c.(487-489)GAC>AAC	48	48			ovary(1)	1	Broad	phosphoserine aminotransferase 1 isoform 1		L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	80921319		0.463	ENSG00000135069	12434	g.chr9:80921319G>A	L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	Colon(34;187 791 10662 18313 37609)			Colon(34;187 791 10662 18313 37609)			-62.543787	KEEP	8	2	-1	230	114	8	2	-1	15.068637	230	114	0.031056	1	0	0	0	0	1	0	0	0	--	--		0	A			PSAT1_uc004alb.2_Missense_Mutation_p.D163N	19	GBM-06-0139-TP	p.D163N	G	TGTGGAGTTTGACTTTATACC	NM_058179	NP_478059	80921319	Q9Y617	SERC_HUMAN	0			5	555	+	A	A			Missense_Mutation	163						
PSD3	23362		GRCh37	8	18729893	18729893	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000327040.8:c.481G>T	p.Val161Phe	p.V161F	ENST00000327040	NM_015310.3	161	Gtt/Ttt	0																																																																																																																																																																																																																																												
PSD4	23550	broad.mit.edu	GRCh37	2	113942578	113942578	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0210-01	TCGA-06-0210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245796.6:c.1101C>T	p.Asp367=	p.D367=	ENST00000245796	NM_012455.2	367	gaC/gaT	0	A:0.0005	T:0	1	T:0		T	D	uc002tjc.2	protein_coding	YES	CCDS33276.1			1101/3171									ovary(2)	2	c.(1099-1101)GAC>GAT			hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF65	pleckstrin and Sec7 domain containing 4		T:0	A:0	ENSP00000245796	T:0	17-Mar	0.000222		8.64E-05			1.50E-05		0.00151	rs373584220,COSM3364225	17-Mar	common_variant		ENST00000245796	Transcript		T:0.0008	regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	ENSG00000125637	g.chr2:113942578C>T	19096			LOW								--	--	1																																		PSD4_uc002tjd.2_Translation_Start_Site|PSD4_uc002tje.2_Silent_p.D366D|PSD4_uc002tjf.2_Translation_Start_Site	0,1	1			p.D367D	NM_012455	NP_036587	T:0.0041		0,1	PSD4_HUMAN	PSD4	HGNC	Q8NDX1	PSD4_HUMAN			B3KN27_HUMAN		3	1284	+			UPI00004A0748	367					SNV	PSD4,synonymous_variant,p.=,ENST00000441564,;PSD4,synonymous_variant,p.=,ENST00000245796,NM_012455.2;PSD4,non_coding_transcript_exon_variant,,ENST00000485525,;PSD4,downstream_gene_variant,,ENST00000465917,;PSD4,non_coding_transcript_exon_variant,,ENST00000418251,;PSD4,upstream_gene_variant,,ENST00000409656,;	uc002tjc.2	c.1101C>T	1296/5188	2	2			c.1101C>T						2	SNP	c.(1099-1101)GAC>GAT	45	45			ovary(2)	2	Broad	pleckstrin and Sec7 domain containing 4			113942578		0.219	ENSG00000125637	12439	g.chr2:113942578C>T	regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity							198.031337	KEEP	50	58	-1	249	219	50	58	-1	248.666381	249	219	0.182836	1	0	0	0	0	0	0	1	0	--	--		0	T			PSD4_uc002tjd.2_Translation_Start_Site|PSD4_uc002tje.2_Silent_p.D366D|PSD4_uc002tjf.2_Translation_Start_Site	47	GBM-06-0210-TP	p.D367D	C	cgtgtgtggacgaagcattga	NM_012455	NP_036587	113942578	Q8NDX1	PSD4_HUMAN	0			3	1284	+	T	T			Silent	367						
PSD4	23550	broad.mit.edu	GRCh37	2	113940279	113940279	+	synonymous_variant	Silent	SNP	C	C	T	rs147089589		TCGA-06-0939-01	TCGA-06-0939-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245796.6:c.246C>T	p.Asp82=	p.D82=	ENST00000245796	NM_012455.2	82	gaC/gaT	0	T:0.0002		1			T	D	uc002tjc.2	protein_coding	YES	CCDS33276.1			246/3171									ovary(2)	2	c.(244-246)GAC>GAT			hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF65	pleckstrin and Sec7 domain containing 4			T:0.0001	ENSP00000245796		17-Feb	3.29E-05	0.000289						6.85E-05	rs147089589,COSM1325977	17-Feb	.		ENST00000245796	Transcript			regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	ENSG00000125637	g.chr2:113940279C>T	19096			LOW								--	--	1																																		PSD4_uc002tjd.2_Translation_Start_Site|PSD4_uc002tje.2_Silent_p.D81D|PSD4_uc002tjf.2_5'Flank	0,1	1			p.D82D	NM_012455	NP_036587			0,1	PSD4_HUMAN	PSD4	HGNC	Q8NDX1	PSD4_HUMAN			B3KN27_HUMAN		2	429	+			UPI00004A0748	82					SNV	PSD4,synonymous_variant,p.=,ENST00000441564,;PSD4,synonymous_variant,p.=,ENST00000245796,NM_012455.2;PSD4,non_coding_transcript_exon_variant,,ENST00000465917,;PSD4,intron_variant,,ENST00000485525,;PSD4,non_coding_transcript_exon_variant,,ENST00000418251,;PSD4,upstream_gene_variant,,ENST00000409656,;	uc002tjc.2	c.246C>T	441/5188	2	2			c.246C>T						2	SNP	c.(244-246)GAC>GAT	30	30			ovary(2)	2	Broad	pleckstrin and Sec7 domain containing 4			113940279		0.622	ENSG00000125637	12439	g.chr2:113940279C>T	regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity							58.021586	KEEP	9	15	-1	21	23	9	15	-1	58.863327	21	23	0.372881	1	0	0	0	0	0	0	1	0	--	--		0	T			PSD4_uc002tjd.2_Translation_Start_Site|PSD4_uc002tje.2_Silent_p.D81D|PSD4_uc002tjf.2_5'Flank	78	GBM-06-0939-TP	p.D82D	C	TCCATCAGGACGGGCTGGAGC	NM_012455	NP_036587	113940279	Q8NDX1	PSD4_HUMAN	0			2	429	+	T	T			Silent	82						
PSD4	0	broad.mit.edu	GRCh37	2	113940279	113940279	+	synonymous_variant	Silent	SNP	C	C	T	rs147089589		TCGA-28-2513-01	TCGA-28-2513-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245796.6:c.246C>T	p.Asp82=	p.D82=	ENST00000245796	NM_012455.2	82	gaC/gaT	0	T:0.0002		1			T	D	uc002tjc.2	protein_coding	YES	CCDS33276.1			246/3171									ovary(2)	2	c.(244-246)GAC>GAT			hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF65	pleckstrin and Sec7 domain containing 4			T:0.0001	ENSP00000245796		17-Feb	3.29E-05	0.000289						6.85E-05	rs147089589,COSM1325977	17-Feb	.		ENST00000245796	Transcript			regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	ENSG00000125637	g.chr2:113940279C>T	19096			LOW								--	--	1																																		PSD4_uc002tjd.2_Translation_Start_Site|PSD4_uc002tje.2_Silent_p.D81D|PSD4_uc002tjf.2_5'Flank	0,1	1			p.D82D	NM_012455	NP_036587			0,1	PSD4_HUMAN	PSD4	HGNC	Q8NDX1	PSD4_HUMAN			B3KN27_HUMAN		2	429	+			UPI00004A0748	82					SNV	PSD4,synonymous_variant,p.=,ENST00000441564,;PSD4,synonymous_variant,p.=,ENST00000245796,NM_012455.2;PSD4,non_coding_transcript_exon_variant,,ENST00000465917,;PSD4,intron_variant,,ENST00000485525,;PSD4,non_coding_transcript_exon_variant,,ENST00000418251,;PSD4,upstream_gene_variant,,ENST00000409656,;	uc002tjc.2	c.246C>T	441/5188	2	2			c.246C>T						2	SNP	c.(244-246)GAC>GAT	30	30			ovary(2)	2	Broad	pleckstrin and Sec7 domain containing 4			113940279		0.622	ENSG00000125637	12439	g.chr2:113940279C>T	regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity							8.503018	KEEP	4	5	-1	33	31	4	5	-1	17.508072	33	31	0.123077	1	0	0	0	0	0	0	1	0	--	--		0	T			PSD4_uc002tjd.2_Translation_Start_Site|PSD4_uc002tje.2_Silent_p.D81D|PSD4_uc002tjf.2_5'Flank	213	GBM-28-2513-TP	p.D82D	C	TCCATCAGGACGGGCTGGAGC	NM_012455	NP_036587	113940279	Q8NDX1	PSD4_HUMAN	0			2	429	+	T	T			Silent	82						
PSG1	5669	broad.mit.edu	GRCh37	19	43376198	43376198	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A			TCGA-02-0055-01	TCGA-02-0055-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000244296.2:c.431-1G>T		p.X144_splice	ENST00000244296	NM_006905.2	144		0			1			A		uc002ovb.2	protein_coding		CCDS54275.1			431/1260									ovary(2)	2	c.e3-1				pregnancy specific beta-1-glycoprotein 1				ENSP00000413041											COSM3404322,COSM3404324,COSM3404323,COSM3404325		.		ENST00000436291	Transcript			female pregnancy	extracellular region		ENSG00000231924	g.chr19:43376198C>A	9514			HIGH	5-Feb							--	--	1																																		PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Splice_Site_p.L144_splice|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_Splice_Site|PSG1_uc002our.1_Splice_Site_p.L144_splice|PSG1_uc010eio.1_Splice_Site_p.L144_splice|PSG1_uc002oux.1_Splice_Site_p.L73_splice|PSG1_uc002ouy.1_Splice_Site_p.L144_splice|PSG1_uc002ouz.1_Splice_Site_p.L144_splice|PSG1_uc002ova.1_Intron|PSG1_uc002ovc.2_Intron|PSG1_uc002ovd.1_Splice_Site_p.L144_splice	1,1,1,1				p.L144_splice	NM_006905	NP_008836			1,1,1,1	PSG1_HUMAN	PSG1	HGNC	P11464	PSG1_HUMAN			Q9UMI0_HUMAN,M0QY44_HUMAN		3	569	-		Prostate(69;0.00682)	UPI000013279D						SNV	PSG1,splice_acceptor_variant,,ENST00000244296,NM_006905.2;PSG1,splice_acceptor_variant,,ENST00000436291,NM_001184826.1,NM_001184825.1;PSG1,splice_acceptor_variant,,ENST00000595356,;PSG1,splice_acceptor_variant,,ENST00000312439,;PSG1,splice_acceptor_variant,,ENST00000595930,;PSG1,splice_acceptor_variant,,ENST00000597058,;PSG1,intron_variant,,ENST00000403380,;PSG1,intron_variant,,ENST00000595124,;PSG1,downstream_gene_variant,,ENST00000601073,;PSG1,downstream_gene_variant,,ENST00000601456,;PSG1,upstream_gene_variant,,ENST00000602039,;	uc002ovb.2	c.431_splice	-/2047	5	2			c.431_splice						19	SNP	c.e3-1	22	22			ovary(2)	2	Broad	pregnancy specific beta-1-glycoprotein 1			43376198		0.527	ENSG00000231924	12443	g.chr19:43376198C>A	female pregnancy	extracellular region								-40.450116	KEEP	5	4	0.444444444	133	118	5	4	0.444444444	16.000542	133	118	0.037037	1	0	0	0	0	0	0	0	1	--	--		0	A			PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Splice_Site_p.L144_splice|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_Splice_Site|PSG1_uc002our.1_Splice_Site_p.L144_splice|PSG1_uc010eio.1_Splice_Site_p.L144_splice|PSG1_uc002oux.1_Splice_Site_p.L73_splice|PSG1_uc002ouy.1_Splice_Site_p.L144_splice|PSG1_uc002ouz.1_Splice_Site_p.L144_splice|PSG1_uc002ova.1_Intron|PSG1_uc002ovc.2_Intron|PSG1_uc002ovd.1_Splice_Site_p.L144_splice	4	GBM-02-0055-TP	p.L144_splice	C	GGAGTCTCCACTGTGCAGAAA	NM_006905	NP_008836	43376198	P11464	PSG1_HUMAN	0			3	569	-	A	A		Prostate(69;0.00682)	Splice_Site							
PSG1	5669	broad.mit.edu	GRCh37	19	43382389	43382389	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5410-01	TCGA-06-5410-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000244296.2:c.106G>A	p.Val36Ile	p.V36I	ENST00000244296	NM_006905.2	36	Gtc/Atc	0			1			T	V/I	uc002ovb.2	protein_coding		CCDS54275.1			106/1260									ovary(2)	2	c.(106-108)GTC>ATC			hmmpanther:PTHR19955:SF114,hmmpanther:PTHR19955,Pfam_domain:PF07686,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	pregnancy specific beta-1-glycoprotein 1				ENSP00000413041		6-Feb									COSM3404326,COSM3404328,COSM3404327,COSM3404329	6-Feb	.		ENST00000436291	Transcript			female pregnancy	extracellular region		ENSG00000231924	g.chr19:43382389C>T	9514			MODERATE		2.345	medium	getma.org/?cm=msa&ty=f&p=PSG1_HUMAN&rb=33&re=140&var=V36I	getma.org/pdb.php?prot=PSG1_HUMAN&from=33&to=140&var=V36I	getma.org/?cm=var&var=hg19,19,43382389,C,T&fts=all	V36I	--	--	1																																		PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.V36I|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.V36I|PSG1_uc010eio.1_Missense_Mutation_p.V36I|PSG1_uc002oux.1_5'UTR|PSG1_uc002ouy.1_Missense_Mutation_p.V36I|PSG1_uc002ouz.1_Missense_Mutation_p.V36I|PSG1_uc002ova.1_Missense_Mutation_p.V36I|PSG1_uc002ovc.2_Missense_Mutation_p.V36I|PSG1_uc002ovd.1_Missense_Mutation_p.V36I	1,1,1,1			probably_damaging(0.972)	p.V36I	NM_006905	NP_008836		deleterious(0.01)	1,1,1,1	PSG1_HUMAN	PSG1	HGNC	P11464	PSG1_HUMAN			Q9UMI0_HUMAN,M0QY44_HUMAN		2	244	-		Prostate(69;0.00682)	UPI000013279D	36			Ig-like V-type.		SNV	PSG1,missense_variant,p.Val36Ile,ENST00000244296,NM_006905.2;PSG1,missense_variant,p.Val36Ile,ENST00000436291,NM_001184826.1,NM_001184825.1;PSG1,missense_variant,p.Val36Ile,ENST00000595356,;PSG1,missense_variant,p.Val36Ile,ENST00000312439,;PSG1,missense_variant,p.Val36Ile,ENST00000403380,;PSG1,missense_variant,p.Val36Ile,ENST00000595124,;PSG1,5_prime_UTR_variant,,ENST00000595930,;PSG1,upstream_gene_variant,,ENST00000597058,;PSG1,non_coding_transcript_exon_variant,,ENST00000601073,;PSG1,non_coding_transcript_exon_variant,,ENST00000601456,;	uc002ovb.2	c.106G>A	223/2047	1	1			c.106G>A						19	SNP	c.(106-108)GTC>ATC	1	1			ovary(2)	2	Broad	pregnancy specific beta-1-glycoprotein 1			43382389		0.463	ENSG00000231924	12443	g.chr19:43382389C>T	female pregnancy	extracellular region								-31.204657	KEEP	6	7	-1	119	150	6	7	-1	24.253303	119	150	0.047244	1	0	0	0	0	1	0	0	0	--	--		0	T			PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.V36I|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.V36I|PSG1_uc010eio.1_Missense_Mutation_p.V36I|PSG1_uc002oux.1_5'UTR|PSG1_uc002ouy.1_Missense_Mutation_p.V36I|PSG1_uc002ouz.1_Missense_Mutation_p.V36I|PSG1_uc002ova.1_Missense_Mutation_p.V36I|PSG1_uc002ovc.2_Missense_Mutation_p.V36I|PSG1_uc002ovd.1_Missense_Mutation_p.V36I	93	GBM-06-5410-TP	p.V36I	C	TCAATCGTGACTTGGGCAGTG	NM_006905	NP_008836	43382389	P11464	PSG1_HUMAN	0			2	244	-	T	T		Prostate(69;0.00682)	Missense_Mutation	36			Ig-like V-type.			
PSG1	0	broad.mit.edu	GRCh37	19	43373123	43373123	+	stop_gained	Nonsense_Mutation	SNP	A	A	C			TCGA-26-1439-01	TCGA-26-1439-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000436291.2:c.773T>G	p.Leu258Ter	p.L258*	ENST00000436291	NM_001184826.1	258	tTa/tGa	0			1			C	L/*	uc002ovb.2	protein_coding		CCDS54275.1			773/1260									ovary(2)	2	c.(772-774)TTA>TGA			PROSITE_profiles:PS50835,hmmpanther:PTHR19955:SF114,hmmpanther:PTHR19955,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	pregnancy specific beta-1-glycoprotein 1				ENSP00000413041		6-Apr	9.06E-05		8.65E-05			1.50E-05	0.0011	0.000486	rs780867943,COSM2156865,COSM2156866,COSM3404315,COSM2156867,COSM3404316	6-Apr	common_variant		ENST00000436291	Transcript			female pregnancy	extracellular region		ENSG00000231924	g.chr19:43373123A>C	9514			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,19,43373123,A,C&fts=all	L258*	--	--	1																																		PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Nonsense_Mutation_p.L258*|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Nonsense_Mutation_p.L258*|PSG1_uc010eio.1_Nonsense_Mutation_p.L258*|PSG1_uc002oux.1_Nonsense_Mutation_p.L187*|PSG1_uc002ouy.1_Intron|PSG1_uc002ouz.1_Nonsense_Mutation_p.L258*|PSG1_uc002ova.1_Nonsense_Mutation_p.L165*|PSG1_uc002ovc.2_Nonsense_Mutation_p.L165*|PSG1_uc002ovd.1_Nonsense_Mutation_p.L258*	0,1,1,1,1,1				p.L258*	NM_006905	NP_008836			0,1,1,1,1,1	PSG1_HUMAN	PSG1	HGNC	P11464	PSG1_HUMAN			Q9UMI0_HUMAN,M0QY44_HUMAN		4	911	-		Prostate(69;0.00682)	UPI000013279D	258			Ig-like C2-type 2.		SNV	PSG1,stop_gained,p.Leu258Ter,ENST00000244296,NM_006905.2;PSG1,stop_gained,p.Leu258Ter,ENST00000436291,NM_001184826.1,NM_001184825.1;PSG1,stop_gained,p.Leu258Ter,ENST00000595356,;PSG1,stop_gained,p.Leu258Ter,ENST00000312439,;PSG1,stop_gained,p.Leu165Ter,ENST00000403380,;PSG1,stop_gained,p.Leu165Ter,ENST00000595124,;PSG1,intron_variant,,ENST00000597058,;PSG1,downstream_gene_variant,,ENST00000595930,;PSG1,non_coding_transcript_exon_variant,,ENST00000602039,;	uc002ovb.2	c.773T>G	890/2047	5	3			c.773T>G						19	SNP	c.(772-774)TTA>TGA	52	52			ovary(2)	2	Broad	pregnancy specific beta-1-glycoprotein 1			43373123		0.488	ENSG00000231924	12443	g.chr19:43373123A>C	female pregnancy	extracellular region								674.827704	KEEP	125	142	-1	210	268	125	142	-1	681.68979	210	268	0.374749	1	0	0	0	0	0	1	0	0	--	--		0	C			PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Nonsense_Mutation_p.L258*|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Nonsense_Mutation_p.L258*|PSG1_uc010eio.1_Nonsense_Mutation_p.L258*|PSG1_uc002oux.1_Nonsense_Mutation_p.L187*|PSG1_uc002ouy.1_Intron|PSG1_uc002ouz.1_Nonsense_Mutation_p.L258*|PSG1_uc002ova.1_Nonsense_Mutation_p.L165*|PSG1_uc002ovc.2_Nonsense_Mutation_p.L165*|PSG1_uc002ovd.1_Nonsense_Mutation_p.L258*	179	GBM-26-1439-TP	p.L258*	A	GGTGAAGTTTAAGACATCCTT	NM_006905	NP_008836	43373123	P11464	PSG1_HUMAN	0			4	911	-	C	C		Prostate(69;0.00682)	Nonsense_Mutation	258			Ig-like C2-type 2.			
PSG1	0	broad.mit.edu	GRCh37	19	43372476	43372476	+	synonymous_variant	Silent	SNP	T	T	A			TCGA-76-4927-01	TCGA-76-4927-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000436291.2:c.1020A>T	p.Ser340=	p.S340=	ENST00000436291	NM_001184826.1	340	tcA/tcT	0			1			A	S	uc002ovb.2	protein_coding		CCDS54275.1			1020/1260									ovary(2)	2	c.(1018-1020)TCA>TCT			PROSITE_profiles:PS50835,hmmpanther:PTHR19955:SF114,hmmpanther:PTHR19955,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	pregnancy specific beta-1-glycoprotein 1				ENSP00000413041		6-May									COSM3404310,COSM3404312,COSM3404311,COSM3404313,COSM3404314	6-May	.		ENST00000436291	Transcript			female pregnancy	extracellular region		ENSG00000231924	g.chr19:43372476T>A	9514			LOW								--	--	1																																		PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_Intron|PSG1_uc002our.1_Silent_p.S340S|PSG1_uc010eio.1_Silent_p.S340S|PSG1_uc002oux.1_Silent_p.S269S|PSG1_uc002ouy.1_Silent_p.S247S|PSG1_uc002ouz.1_Silent_p.S340S|PSG1_uc002ova.1_Silent_p.S247S|PSG1_uc002ovc.2_Silent_p.S247S|PSG1_uc002ovd.1_Silent_p.S340S	1,1,1,1,1				p.S340S	NM_006905	NP_008836			1,1,1,1,1	PSG1_HUMAN	PSG1	HGNC	P11464	PSG1_HUMAN			Q9UMI0_HUMAN,M0QY44_HUMAN		5	1158	-		Prostate(69;0.00682)	UPI000013279D	340			Ig-like C2-type 3.		SNV	PSG1,synonymous_variant,p.=,ENST00000244296,NM_006905.2;PSG1,synonymous_variant,p.=,ENST00000436291,NM_001184826.1,NM_001184825.1;PSG1,synonymous_variant,p.=,ENST00000595356,;PSG1,synonymous_variant,p.=,ENST00000312439,;PSG1,synonymous_variant,p.=,ENST00000403380,;PSG1,synonymous_variant,p.=,ENST00000595124,;PSG1,synonymous_variant,p.=,ENST00000597058,;PSG1,downstream_gene_variant,,ENST00000595930,;PSG1,non_coding_transcript_exon_variant,,ENST00000602039,;	uc002ovb.2	c.1020A>T	1137/2047	1	1			c.1020A>T						19	SNP	c.(1018-1020)TCA>TCT	62	62			ovary(2)	2	Broad	pregnancy specific beta-1-glycoprotein 1			43372476		0.468	ENSG00000231924	12443	g.chr19:43372476T>A	female pregnancy	extracellular region								175.388623	KEEP	44	37	-1	167	204	44	37	-1	180.35216	167	204	0.326087	1	0	0	0	0	0	0	1	0	--	--		0	A			PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_Intron|PSG1_uc002our.1_Silent_p.S340S|PSG1_uc010eio.1_Silent_p.S340S|PSG1_uc002oux.1_Silent_p.S269S|PSG1_uc002ouy.1_Silent_p.S247S|PSG1_uc002ouz.1_Silent_p.S340S|PSG1_uc002ova.1_Silent_p.S247S|PSG1_uc002ovc.2_Silent_p.S247S|PSG1_uc002ovd.1_Silent_p.S340S	267	GBM-76-4927-TP	p.S340S	T	AATAGGTGAATGAAGGGTAAA	NM_006905	NP_008836	43372476	P11464	PSG1_HUMAN	0			5	1158	-	A	A		Prostate(69;0.00682)	Silent	340			Ig-like C2-type 3.			
PSG1	0	broad.mit.edu	GRCh37	19	43383725	43383725	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-87-5896-01	TCGA-87-5896-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000436291.2:c.9C>A	p.Thr3=	p.T3=	ENST00000436291	NM_001184826.1	3	acC/acA	0			1			T	T	uc002ovb.2	protein_coding		CCDS54275.1			9/1260									ovary(2)	2	c.(7-9)ACC>ACA			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR19955:SF114,hmmpanther:PTHR19955	pregnancy specific beta-1-glycoprotein 1				ENSP00000413041		6-Jan									COSM3404330,COSM3404332,COSM3404331,COSM3404333	6-Jan	.		ENST00000436291	Transcript			female pregnancy	extracellular region		ENSG00000231924	g.chr19:43383725G>T	9514			LOW								--	--	1																																		PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Silent_p.T3T|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Silent_p.T3T|PSG1_uc010eio.1_Silent_p.T3T|PSG1_uc002oux.1_5'Flank|PSG1_uc002ouy.1_Silent_p.T3T|PSG1_uc002ouz.1_Silent_p.T3T|PSG1_uc002ova.1_Silent_p.T3T|PSG1_uc002ovc.2_Silent_p.T3T|PSG1_uc002ovd.1_Silent_p.T3T	1,1,1,1				p.T3T	NM_006905	NP_008836			1,1,1,1	PSG1_HUMAN	PSG1	HGNC	P11464	PSG1_HUMAN			Q9UMI0_HUMAN,M0QY44_HUMAN		1	147	-		Prostate(69;0.00682)	UPI000013279D	3					SNV	PSG1,synonymous_variant,p.=,ENST00000244296,NM_006905.2;PSG1,synonymous_variant,p.=,ENST00000436291,NM_001184826.1,NM_001184825.1;PSG1,synonymous_variant,p.=,ENST00000595356,;PSG1,synonymous_variant,p.=,ENST00000312439,;PSG1,synonymous_variant,p.=,ENST00000403380,;PSG1,synonymous_variant,p.=,ENST00000595124,;PSG1,upstream_gene_variant,,ENST00000595930,;PSG1,upstream_gene_variant,,ENST00000597058,;PSG1,non_coding_transcript_exon_variant,,ENST00000601073,;PSG1,non_coding_transcript_exon_variant,,ENST00000601456,;	uc002ovb.2	c.9C>A	126/2047	1	1			c.9C>A						19	SNP	c.(7-9)ACC>ACA	1	1			ovary(2)	2	Broad	pregnancy specific beta-1-glycoprotein 1			43383725		0.572	ENSG00000231924	12443	g.chr19:43383725G>T	female pregnancy	extracellular region								87.219184	KEEP	18	23	0.43902439	60	67	18	23	0.43902439	95.41135	60	67	0.25	1	0	0	0	0	0	0	1	0	--	--		0	T			PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Silent_p.T3T|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Silent_p.T3T|PSG1_uc010eio.1_Silent_p.T3T|PSG1_uc002oux.1_5'Flank|PSG1_uc002ouy.1_Silent_p.T3T|PSG1_uc002ouz.1_Silent_p.T3T|PSG1_uc002ova.1_Silent_p.T3T|PSG1_uc002ovc.2_Silent_p.T3T|PSG1_uc002ovd.1_Silent_p.T3T	291	GBM-87-5896-TP	p.T3T	G	GGGCTGAGAGGGTTCCCATGG	NM_006905	NP_008836	43383725	P11464	PSG1_HUMAN	0			1	147	-	T	T		Prostate(69;0.00682)	Silent	3						
PSG1	5669		GRCh37	19	43376102	43376102	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000244296.2:c.526G>A	p.Ala176Thr	p.A176T	ENST00000244296	NM_006905.2	176	Gca/Aca	0																																																																																																																																																																																																																																												
PSG10P	0	broad.mit.edu	GRCh37	19	43359720	43359720	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G			TCGA-28-2514-01	TCGA-28-2514-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000501199.4:n.52G>C		*18*	ENST00000501199				0		G:0.003	1	G:0.0029		G		uc002oul.3	transcribed_unprocessed_pseudogene	YES														0	c.(52-54)GTC>CTC				pregnancy specific beta-1-glycoprotein 8 isoform		G:0.002			G:0.003	6-Jan	0.00179	0.00255	0.00218	0.00153		0.00171	0.00222	0.00225	rs200711372	6-Jan	common_variant		ENST00000501199	Transcript		G:0.0032		extracellular region		ENSG00000248257	g.chr19:43359720C>G	9515			MODIFIER								--	--	1																																		PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG8_uc002oum.3_Missense_Mutation_p.V18L|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.V18L|PSG10_uc010eip.2_RNA|PSG1_uc002our.1_Intron|PSG1_uc010eio.1_Intron|PSG1_uc002oux.1_Intron|PSG1_uc002ouy.1_Intron		1			p.V18L	NM_001130168	NP_001123640	G:0.0051				PSG10P	HGNC	Q9UQ74	PSG8_HUMAN					1	151	-		Prostate(69;0.00899)		18					SNV	PSG8,missense_variant,p.Val18Leu,ENST00000401467,;PSG10P,non_coding_transcript_exon_variant,,ENST00000597171,;PSG10P,non_coding_transcript_exon_variant,,ENST00000501199,;	uc002oul.3	c.52G>C	52/1500	3	3			c.52G>C						19	SNP	c.(52-54)GTC>CTC	15	15				0	Broad	pregnancy specific beta-1-glycoprotein 8 isoform			43359720		0.567	ENSG00000248257	12451	g.chr19:43359720C>G		extracellular region								-14.762527	KEEP	4	4	-1	70	66	4	4	-1	12.19041	70	66	0.048387	1	0	0	0	0	1	0	0	0	--	--		0	G			PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG8_uc002oum.3_Missense_Mutation_p.V18L|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.V18L|PSG10_uc010eip.2_RNA|PSG1_uc002our.1_Intron|PSG1_uc010eio.1_Intron|PSG1_uc002oux.1_Intron|PSG1_uc002ouy.1_Intron	214	GBM-28-2514-TP	p.V18L	C	GTGAGCAGGACCCCCTTCCAT	NM_001130168	NP_001123640	43359720	Q9UQ74	PSG8_HUMAN	0			1	151	-	G	G		Prostate(69;0.00899)	Missense_Mutation	18						
PSG2	5670	broad.mit.edu	GRCh37	19	43576027	43576027	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6388-01	TCGA-06-6388-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000406487.1:c.789G>A	p.Ala263=	p.A263=	ENST00000406487	NM_031246.3	263	gcG/gcA	0			1			T	A	uc002ovr.2	protein_coding	YES	CCDS12616.1			789/1008										0	c.(787-789)GCG>GCA			Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF109,PROSITE_profiles:PS50835	pregnancy specific beta-1-glycoprotein 2				ENSP00000385706		6-Apr	2.47E-05					4.50E-05			rs761048790,COSM3288564	6-Apr	.		ENST00000406487	Transcript			cell migration|female pregnancy	extracellular region		ENSG00000242221	g.chr19:43576027C>T	9519			LOW								--	--	1																																		PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Silent_p.A263A|PSG2_uc010eiq.1_Silent_p.A263A|PSG2_uc002ovs.3_Silent_p.A263A|PSG2_uc002ovt.3_Silent_p.A263A	0,1	1			p.A263A	NM_031246	NP_112536			0,1	PSG2_HUMAN	PSG2	HGNC	P11465	PSG2_HUMAN					4	882	-		Prostate(69;0.00682)	UPI000013CCF5	263			Ig-like C2-type 2.		SNV	PSG2,synonymous_variant,p.=,ENST00000406487,NM_031246.3;PSG2,synonymous_variant,p.=,ENST00000329509,;PSG2,non_coding_transcript_exon_variant,,ENST00000593482,;	uc002ovr.2	c.789G>A	888/1538	1	1			c.789G>A						19	SNP	c.(787-789)GCG>GCA	7	7				0	Broad	pregnancy specific beta-1-glycoprotein 2			43576027		0.443	ENSG00000242221	12445	g.chr19:43576027C>T	cell migration|female pregnancy	extracellular region								197.183749	KEEP	55	34	-1	128	122	55	34	-1	213.12294	128	122	0.263492	1	0	0	0	0	0	0	1	0	--	--		0	T			PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Silent_p.A263A|PSG2_uc010eiq.1_Silent_p.A263A|PSG2_uc002ovs.3_Silent_p.A263A|PSG2_uc002ovt.3_Silent_p.A263A	104	GBM-06-6388-TP	p.A263A	C	GGTTAGAGTTCGCGAAGCAAG	NM_031246	NP_112536	43576027	P11465	PSG2_HUMAN	0			4	882	-	T	T		Prostate(69;0.00682)	Silent	263			Ig-like C2-type 2.			
PSG4	5672	broad.mit.edu	GRCh37	19	43702421	43702421	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0145-01	TCGA-06-0145-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000405312.3:c.437C>G	p.Thr146Ser	p.T146S	ENST00000405312	NM_002780.4	146	aCt/aGt	0			1			C	T/S	uc002ovy.2	protein_coding	YES	CCDS46093.1			437/1260									ovary(1)	1	c.(436-438)ACT>AGT			hmmpanther:PTHR19955:SF105,hmmpanther:PTHR19955,Superfamily_domains:SSF48726	pregnancy specific beta-1-glycoprotein 4 isoform				ENSP00000384770		6-Mar									COSM2149769,COSM2149768	6-Mar	.		ENST00000405312	Transcript			defense response|female pregnancy	extracellular region		ENSG00000243137	g.chr19:43702421G>C	9521			MODERATE		2.48	medium	getma.org/?cm=msa&ty=f&p=PSG4_HUMAN&rb=112&re=177&var=T146S	getma.org/pdb.php?prot=PSG4_HUMAN&from=142&to=147&var=T146S	getma.org/?cm=var&var=hg19,19,43702421,G,C&fts=all	T146S	--	--	1																																		PSG6_uc010xwk.1_5'UTR|PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Intron|PSG4_uc002ovz.2_Missense_Mutation_p.T146S	1,1	1		benign(0.08)	p.T146S	NM_002780	NP_002771		tolerated(0.15)	1,1	PSG4_HUMAN	PSG4	HGNC	Q00888	PSG4_HUMAN			M0QYU2_HUMAN		3	539	-		Prostate(69;0.00682)	UPI000034ECBA	146					SNV	PSG4,missense_variant,p.Thr146Ser,ENST00000405312,NM_002780.4;PSG4,missense_variant,p.Thr146Ser,ENST00000244295,NM_213633.2;PSG4,missense_variant,p.Thr162Ser,ENST00000451895,;PSG4,missense_variant,p.Thr24Ser,ENST00000596907,;PSG4,missense_variant,p.Thr3Ser,ENST00000599371,;PSG4,missense_variant,p.Thr24Ser,ENST00000599391,;PSG4,missense_variant,p.Thr75Ser,ENST00000600572,;PSG4,intron_variant,,ENST00000433626,NM_001276495.1;PSG4,intron_variant,,ENST00000599746,;PSG4,upstream_gene_variant,,ENST00000597374,;PSG4,3_prime_UTR_variant,,ENST00000595949,;PSG4,non_coding_transcript_exon_variant,,ENST00000495316,;PSG4,non_coding_transcript_exon_variant,,ENST00000596199,;PSG4,intron_variant,,ENST00000601041,;PSG4,downstream_gene_variant,,ENST00000597912,;PSG4,upstream_gene_variant,,ENST00000490769,;PSG4,upstream_gene_variant,,ENST00000597349,;	uc002ovy.2	c.437C>G	675/2168	3	3			c.437C>G						19	SNP	c.(436-438)ACT>AGT	59	59			ovary(1)	1	Broad	pregnancy specific beta-1-glycoprotein 4 isoform			43702421		0.517	ENSG00000243137	12447	g.chr19:43702421G>C	defense response|female pregnancy	extracellular region								289.99408	KEEP	51	51	-1	147	126	51	51	-1	306.387625	147	126	0.268437	1	0	0	0	0	1	0	0	0	--	--		0	C			PSG6_uc010xwk.1_5'UTR|PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Intron|PSG4_uc002ovz.2_Missense_Mutation_p.T146S	23	GBM-06-0145-TP	p.T146S	G	GGGCTTGGGAGTCTCCACTGT	NM_002780	NP_002771	43702421	Q00888	PSG4_HUMAN	0			3	539	-	C	C		Prostate(69;0.00682)	Missense_Mutation	146						
PSG4	5672	broad.mit.edu	GRCh37	19	43708378	43708378	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6388-01	TCGA-06-6388-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000405312.3:c.90G>A	p.Pro30=	p.P30=	ENST00000405312	NM_002780.4	30	ccG/ccA	0		T:0	1	T:0.0014		T	P	uc002ovy.2	protein_coding	YES	CCDS46093.1			90/1260									ovary(1)	1	c.(88-90)CCG>CCA			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR19955:SF105,hmmpanther:PTHR19955	pregnancy specific beta-1-glycoprotein 4 isoform		T:0		ENSP00000384770	T:0	6-Feb	5.85E-05	0.000204	8.88E-05	0.000272		3.06E-05			rs533600298,COSM190207,COSM190208	6-Feb	.		ENST00000405312	Transcript		T:0.0002	defense response|female pregnancy	extracellular region		ENSG00000243137	g.chr19:43708378C>T	9521			LOW								--	--	1																																		PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Silent_p.P30P|PSG4_uc002ovz.2_Silent_p.P30P	0,1,1	1			p.P30P	NM_002780	NP_002771	T:0		0,1,1	PSG4_HUMAN	PSG4	HGNC	Q00888	PSG4_HUMAN			M0QYU2_HUMAN		2	192	-		Prostate(69;0.00682)	UPI000034ECBA	30					SNV	PSG4,synonymous_variant,p.=,ENST00000405312,NM_002780.4;PSG4,synonymous_variant,p.=,ENST00000433626,NM_001276495.1;PSG4,synonymous_variant,p.=,ENST00000244295,NM_213633.2;PSG4,synonymous_variant,p.=,ENST00000451895,;PSG4,synonymous_variant,p.=,ENST00000599746,;PSG4,5_prime_UTR_variant,,ENST00000600572,;PSG4,intron_variant,,ENST00000596907,;PSG4,intron_variant,,ENST00000599391,;PSG4,non_coding_transcript_exon_variant,,ENST00000597912,;PSG4,intron_variant,,ENST00000595949,;PSG4,intron_variant,,ENST00000601041,;PSG4,intron_variant,,ENST00000596199,;PSG4,upstream_gene_variant,,ENST00000495316,;	uc002ovy.2	c.90G>A	328/2168	2	2			c.90G>A						19	SNP	c.(88-90)CCG>CCA	34	34			ovary(1)	1	Broad	pregnancy specific beta-1-glycoprotein 4 isoform			43708378		0.468	ENSG00000243137	12447	g.chr19:43708378C>T	defense response|female pregnancy	extracellular region								146.92404	KEEP	39	31	-1	89	73	39	31	-1	154.212146	89	73	0.303318	1	0	0	0	0	0	0	1	0	--	--		0	T			PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Silent_p.P30P|PSG4_uc002ovz.2_Silent_p.P30P	104	GBM-06-6388-TP	p.P30P	C	CAGTTGTGGGCGGATTCCAGA	NM_002780	NP_002771	43708378	Q00888	PSG4_HUMAN	0			2	192	-	T	T		Prostate(69;0.00682)	Silent	30						
PSG5	5673	broad.mit.edu	GRCh37	19	43689122	43689122	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366175.3:c.242C>T	p.Ser81Leu	p.S81L	ENST00000366175		81	tCa/tTa	0			1			A	S/L	uc002ovu.2	protein_coding		CCDS12617.1			242/1008									skin(3)	3	c.(241-243)TCA>TTA			Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF105,SMART_domains:SM00409,Superfamily_domains:SSF48726	pregnancy specific beta-1-glycoprotein 5				ENSP00000344413		6-Feb									COSM3404341	6-Feb	.		ENST00000342951	Transcript			female pregnancy	extracellular region		ENSG00000204941	g.chr19:43689122G>A	9522			MODERATE		0.935	low	getma.org/?cm=msa&ty=f&p=PSG5_HUMAN&rb=6&re=140&var=S81L	getma.org/pdb.php?prot=PSG5_HUMAN&from=6&to=140&var=S81L	getma.org/?cm=var&var=hg19,19,43689122,G,A&fts=all	S81L	--	--	1																																		PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Missense_Mutation_p.S9L|PSG5_uc002ovx.2_Missense_Mutation_p.S81L|PSG5_uc002ovv.2_Missense_Mutation_p.S81L|PSG5_uc002ovw.2_Missense_Mutation_p.S81L	1			possibly_damaging(0.816)	p.S81L	NM_002781	NP_002772		tolerated(0.06)	1	PSG5_HUMAN	PSG5	HGNC	Q15238	PSG5_HUMAN					2	373	-		Prostate(69;0.00899)	UPI000013C7B9	81			Ig-like V-type.		SNV	PSG5,missense_variant,p.Ser81Leu,ENST00000404580,;PSG5,missense_variant,p.Ser81Leu,ENST00000599812,;PSG5,missense_variant,p.Ser81Leu,ENST00000366175,;PSG5,missense_variant,p.Ser81Leu,ENST00000342951,NM_001130014.1,NM_002781.3;PSG5,missense_variant,p.Ser81Leu,ENST00000407356,;PSG5,missense_variant,p.Ser81Leu,ENST00000407568,;PSG5,non_coding_transcript_exon_variant,,ENST00000401992,;PSG5,upstream_gene_variant,,ENST00000489220,;PSG5,non_coding_transcript_exon_variant,,ENST00000600817,;	uc002ovu.2	c.242C>T	359/1626	1	1			c.242C>T						19	SNP	c.(241-243)TCA>TTA	55	55			skin(3)	3	Broad	pregnancy specific beta-1-glycoprotein 5			43689122		0.433	ENSG00000204941	12448	g.chr19:43689122G>A	female pregnancy	extracellular region								188.402017	KEEP	59	41	-1	250	239	59	41	-1	244.031265	250	239	0.17446	1	0	0	0	0	1	0	0	0	--	--		0	A			PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Missense_Mutation_p.S9L|PSG5_uc002ovx.2_Missense_Mutation_p.S81L|PSG5_uc002ovv.2_Missense_Mutation_p.S81L|PSG5_uc002ovw.2_Missense_Mutation_p.S81L	46	GBM-06-0209-TP	p.S81L	G	TACTACATATGATGTAATGTA	NM_002781	NP_002772	43689122	Q15238	PSG5_HUMAN	0			2	373	-	A	A		Prostate(69;0.00899)	Missense_Mutation	81			Ig-like V-type.			
PSG5	5673	broad.mit.edu	GRCh37	19	43679606	43679606	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01	TCGA-06-2559-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366175.3:c.725C>T	p.Pro242Leu	p.P242L	ENST00000366175		242	cCc/cTc	0			1			A	P/L	uc002ovu.2	protein_coding		CCDS12617.1			725/1008									skin(3)	3	c.(724-726)CCC>CTC			Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF105	pregnancy specific beta-1-glycoprotein 5				ENSP00000344413		6-Apr									COSM1525836	6-Apr	.		ENST00000342951	Transcript			female pregnancy	extracellular region		ENSG00000204941	g.chr19:43679606G>A	9522			MODERATE		3.465	medium	getma.org/?cm=msa&ty=f&p=PSG5_HUMAN&rb=241&re=320&var=P242L	getma.org/pdb.php?prot=PSG5_HUMAN&from=241&to=320&var=P242L	getma.org/?cm=var&var=hg19,19,43679606,G,A&fts=all	P242L	--	--	1																																		PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Missense_Mutation_p.P117L|PSG5_uc002ovx.2_Missense_Mutation_p.P242L|PSG5_uc002ovv.2_Missense_Mutation_p.P335L|PSG5_uc002ovw.2_Intron	1			probably_damaging(1)	p.P242L	NM_002781	NP_002772		deleterious(0)	1	PSG5_HUMAN	PSG5	HGNC	Q15238	PSG5_HUMAN					4	856	-		Prostate(69;0.00899)	UPI000013C7B9	242			Ig-like C2-type 2.		SNV	PSG5,missense_variant,p.Pro242Leu,ENST00000404580,;PSG5,missense_variant,p.Pro335Leu,ENST00000599812,;PSG5,missense_variant,p.Pro242Leu,ENST00000366175,;PSG5,missense_variant,p.Pro242Leu,ENST00000342951,NM_001130014.1,NM_002781.3;PSG5,missense_variant,p.Pro242Leu,ENST00000407356,;PSG5,intron_variant,,ENST00000407568,;PSG5,downstream_gene_variant,,ENST00000489220,;PSG5,downstream_gene_variant,,ENST00000600817,;PSG5,upstream_gene_variant,,ENST00000401942,;PSG5,upstream_gene_variant,,ENST00000599214,;	uc002ovu.2	c.725C>T	842/1626	1	1			c.725C>T						19	SNP	c.(724-726)CCC>CTC	62	62			skin(3)	3	Broad	pregnancy specific beta-1-glycoprotein 5			43679606		0.498	ENSG00000204941	12448	g.chr19:43679606G>A	female pregnancy	extracellular region								301.57701	KEEP	52	53	-1	74	66	52	53	-1	302.644044	74	66	0.426009	1	0	0	0	0	1	0	0	0	--	--		0	A			PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Missense_Mutation_p.P117L|PSG5_uc002ovx.2_Missense_Mutation_p.P242L|PSG5_uc002ovv.2_Missense_Mutation_p.P335L|PSG5_uc002ovw.2_Intron	83	GBM-06-2559-TP	p.P242L	G	GTAAATGCTGGGGAGGTCTGG	NM_002781	NP_002772	43679606	Q15238	PSG5_HUMAN	0			4	856	-	A	A		Prostate(69;0.00899)	Missense_Mutation	242			Ig-like C2-type 2.			
PSG5	0	broad.mit.edu	GRCh37	19	43689016	43689016	+	synonymous_variant	Silent	SNP	G	G	A	rs143404539	byFrequency	TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342951.6:c.348C>T	p.Asp116=	p.D116=	ENST00000342951	NM_001130014.1	116	gaC/gaT	0	A:0.0009	A:0.0008	1	A:0		A	D	uc002ovu.2	protein_coding		CCDS12617.1			348/1008									skin(3)	3	c.(346-348)GAC>GAT			Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF105,SMART_domains:SM00409,Superfamily_domains:SSF48726	pregnancy specific beta-1-glycoprotein 5		A:0	A:0.0002	ENSP00000344413	A:0	6-Feb	0.000198	0.000769	0.000173	0.000116	0.000151	0.000165		6.06E-05	rs143404539,COSM3404340	6-Feb	common_variant		ENST00000342951	Transcript		A:0.0002	female pregnancy	extracellular region		ENSG00000204941	g.chr19:43689016G>A	9522			LOW								--	--	1																																		PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Silent_p.D44D|PSG5_uc002ovx.2_Silent_p.D116D|PSG5_uc002ovv.2_Silent_p.D116D|PSG5_uc002ovw.2_Silent_p.D116D	0,1				p.D116D	NM_002781	NP_002772	A:0		0,1	PSG5_HUMAN	PSG5	HGNC	Q15238	PSG5_HUMAN					2	479	-		Prostate(69;0.00899)	UPI000013C7B9	116			Ig-like V-type.		SNV	PSG5,synonymous_variant,p.=,ENST00000404580,;PSG5,synonymous_variant,p.=,ENST00000599812,;PSG5,synonymous_variant,p.=,ENST00000366175,;PSG5,synonymous_variant,p.=,ENST00000342951,NM_001130014.1,NM_002781.3;PSG5,synonymous_variant,p.=,ENST00000407356,;PSG5,synonymous_variant,p.=,ENST00000407568,;PSG5,non_coding_transcript_exon_variant,,ENST00000401992,;PSG5,non_coding_transcript_exon_variant,,ENST00000489220,;PSG5,non_coding_transcript_exon_variant,,ENST00000600817,;	uc002ovu.2	c.348C>T	465/1626	2	2			c.348C>T						19	SNP	c.(346-348)GAC>GAT	47	47			skin(3)	3	Broad	pregnancy specific beta-1-glycoprotein 5			43689016		0.438	ENSG00000204941	12448	g.chr19:43689016G>A	female pregnancy	extracellular region								282.506298	KEEP	68	76	-1	285	329	68	76	-1	338.955053	285	329	0.196347	1	0	0	0	0	0	0	1	0	--	--		0	A			PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Silent_p.D44D|PSG5_uc002ovx.2_Silent_p.D116D|PSG5_uc002ovv.2_Silent_p.D116D|PSG5_uc002ovw.2_Silent_p.D116D	160	GBM-19-1790-TP	p.D116D	G	AGGATCCTGCGTCTTCCCGGG	NM_002781	NP_002772	43689016	Q15238	PSG5_HUMAN	0			2	479	-	A	A		Prostate(69;0.00899)	Silent	116			Ig-like V-type.			
PSG6	0	broad.mit.edu	GRCh37	19	43420415	43420415	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs112289603	byFrequency	TCGA-06-6701-01	TCGA-06-6701-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000292125.2:c.289C>T	p.Arg97Ter	p.R97*	ENST00000292125	NM_002782.4	97	Cga/Tga	0	A:0.0005	A:0	1	A:0		A	R/*	uc002ovj.1	protein_coding	YES	CCDS12613.1			289/1308									ovary(1)|skin(1)	2	c.(289-291)CGA>TGA			Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR19955:SF126,hmmpanther:PTHR19955	pregnancy specific beta-1-glycoprotein 6 isoform		A:0	A:0.0012	ENSP00000292125	A:0.001	6-Feb	0.000791	0.000384	0.00156	0.000579	0.000302	0.00093	0.0011	0.000243	rs112289603,COSM3404337,COSM3404336	6-Feb	common_variant		ENST00000292125	Transcript		A:0.0004	female pregnancy	extracellular region		ENSG00000170848	g.chr19:43420415G>A	9523			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,19,43420415,G,A&fts=all	R97*	--	--	1																																		PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG6_uc002ovf.1_Nonsense_Mutation_p.R97*|PSG6_uc002ovg.1_Nonsense_Mutation_p.R97*	0,1,1	1			p.R97*	NM_002782	NP_002773	A:0.001		0,1,1	PSG6_HUMAN	PSG6	HGNC	Q00889	PSG6_HUMAN					2	341	-		Prostate(69;0.00899)	UPI00001327A1	97			Ig-like V-type.		SNV	PSG6,stop_gained,p.Arg26Ter,ENST00000601833,;PSG6,stop_gained,p.Arg97Ter,ENST00000187910,NM_001031850.3;PSG6,stop_gained,p.Arg97Ter,ENST00000402603,;PSG6,stop_gained,p.Arg97Ter,ENST00000292125,NM_002782.4;PSG6,intron_variant,,ENST00000594375,;PSG6,non_coding_transcript_exon_variant,,ENST00000402456,;PSG6,non_coding_transcript_exon_variant,,ENST00000595062,;PSG6,intron_variant,,ENST00000484292,;	uc002ovj.1	c.289C>T	334/1391	5	2			c.289C>T						19	SNP	c.(289-291)CGA>TGA	43	43			ovary(1)|skin(1)	2	Broad	pregnancy specific beta-1-glycoprotein 6 isoform			43420415		0.458	ENSG00000170848	12449	g.chr19:43420415G>A	female pregnancy	extracellular region								323.392355	KEEP	83	71	-1	202	185	83	71	-1	340.970764	202	185	0.292308	1	0	0	0	0	0	1	0	0	--	--		0	A			PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG6_uc002ovf.1_Nonsense_Mutation_p.R97*|PSG6_uc002ovg.1_Nonsense_Mutation_p.R97*	115	GBM-06-6701-TP	p.R97*	G	ACTGTTTCTCGTCCACTGTAG	NM_002782	NP_002773	43420415	Q00889	PSG6_HUMAN	0			2	341	-	A	A		Prostate(69;0.00899)	Nonsense_Mutation	97			Ig-like V-type.			
PSG6	0	broad.mit.edu	GRCh37	19	43414919	43414919	+	synonymous_variant	Silent	SNP	C	C	T	rs1065506		TCGA-27-2518-01	TCGA-27-2518-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000292125.2:c.519G>A	p.Pro173=	p.P173=	ENST00000292125	NM_002782.4	173	ccG/ccA	0	T:0.0002	T:0.0008	1	T:0		T	P	uc002ovj.1	protein_coding	YES	CCDS12613.1			519/1308									ovary(1)|skin(1)	2	c.(517-519)CCG>CCA			Superfamily_domains:SSF48726,SMART_domains:SM00408,SMART_domains:SM00409,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR19955:SF126,hmmpanther:PTHR19955,PROSITE_profiles:PS50835	pregnancy specific beta-1-glycoprotein 6 isoform		T:0	T:0.0002	ENSP00000292125	T:0	6-Mar	7.42E-05	0.000288				7.50E-05		6.09E-05	rs1065506,COSM3404335,COSM3404334	6-Mar	.		ENST00000292125	Transcript		T:0.0002	female pregnancy	extracellular region		ENSG00000170848	g.chr19:43414919C>T	9523			LOW								--	--	1																																		PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Silent_p.P180P|PSG6_uc002ovi.2_Silent_p.P174P|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG6_uc002ove.1_5'UTR|PSG6_uc002ovf.1_Silent_p.P173P|PSG6_uc002ovg.1_Silent_p.P173P	0,1,1	1			p.P173P	NM_002782	NP_002773	T:0		0,1,1	PSG6_HUMAN	PSG6	HGNC	Q00889	PSG6_HUMAN					3	571	-		Prostate(69;0.00899)	UPI00001327A1	173			Ig-like C2-type 1.		SNV	PSG6,synonymous_variant,p.=,ENST00000187910,NM_001031850.3;PSG6,synonymous_variant,p.=,ENST00000402603,;PSG6,synonymous_variant,p.=,ENST00000292125,NM_002782.4;PSG6,synonymous_variant,p.=,ENST00000594375,;PSG6,downstream_gene_variant,,ENST00000601833,;PSG6,synonymous_variant,p.=,ENST00000599753,;PSG6,non_coding_transcript_exon_variant,,ENST00000402456,;PSG6,non_coding_transcript_exon_variant,,ENST00000595062,;PSG6,non_coding_transcript_exon_variant,,ENST00000484292,;	uc002ovj.1	c.519G>A	564/1391	2	2			c.519G>A						19	SNP	c.(517-519)CCG>CCA	21	21			ovary(1)|skin(1)	2	Broad	pregnancy specific beta-1-glycoprotein 6 isoform			43414919		0.532	ENSG00000170848	12449	g.chr19:43414919C>T	female pregnancy	extracellular region								-26.871951	KEEP	14	20	-1	256	247	14	20	-1	68.857418	256	247	0.06405	1	0	0	0	0	0	0	1	0	--	--		0	T			PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Silent_p.P180P|PSG6_uc002ovi.2_Silent_p.P174P|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG6_uc002ove.1_5'UTR|PSG6_uc002ovf.1_Silent_p.P173P|PSG6_uc002ovg.1_Silent_p.P173P	198	GBM-27-2518-TP	p.P173P	C	AGCTTGCATCCGGAGTCTCAG	NM_002782	NP_002773	43414919	Q00889	PSG6_HUMAN	0			3	571	-	T	T		Prostate(69;0.00899)	Silent	173			Ig-like C2-type 1.			
PSG7	5676	broad.mit.edu	GRCh37	19	43429925	43429925	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0152-01	TCGA-06-0152-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000406070.2:c.1243G>T	p.Asp415Tyr	p.D415Y	ENST00000406070	NM_002783.2	415	Gac/Tac	0			1			A	D/Y	uc002ovl.3	polymorphic_pseudogene	YES				1243/1260										0	c.(1243-1245)GAC>TAC				pregnancy specific beta-1-glycoprotein 7				ENSP00000421986		6-May	8.24E-06			0.000116					rs773962473	6-May	.		ENST00000406070	Transcript			female pregnancy	extracellular region		ENSG00000221878	g.chr19:43429925C>A	9524			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=PSG7_HUMAN&rb=384&re=419&var=D415Y	NA	getma.org/?cm=var&var=hg19,19,43429925,C,A&fts=all	D415Y	--	--	1																																		PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Missense_Mutation_p.A328S|PSG7_uc002ous.1_RNA|PSG7_uc002out.1_Missense_Mutation_p.A141S|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.D328Y|PSG7_uc010xwl.1_Missense_Mutation_p.D293Y		1		possibly_damaging(0.694)	p.D415Y	NM_002783	NP_002774		deleterious_low_confidence(0.03)			PSG7	HGNC	Q13046	PSG7_HUMAN					6	1345	-		Prostate(69;0.00682)		415					SNV	PSG7,splice_region_variant,,ENST00000599226,;PSG7,downstream_gene_variant,,ENST00000599620,;PSG7,missense_variant,p.Gly415Cys,ENST00000446844,;PSG7,missense_variant,p.Asp415Tyr,ENST00000406070,NM_002783.2;	uc002ovl.3	c.1243G>T	1340/2025	2	2			c.1243G>T						19	SNP	c.(1243-1245)GAC>TAC	46	46				0	Broad	pregnancy specific beta-1-glycoprotein 7			43429925		0.483	ENSG00000221878	12450	g.chr19:43429925C>A	female pregnancy	extracellular region								458.362276	KEEP	80	95	0.542857143	119	144	80	95	0.542857143	461.968029	119	144	0.395778	1	0	0	0	0	1	0	0	0	--	--		0	A			PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Missense_Mutation_p.A328S|PSG7_uc002ous.1_RNA|PSG7_uc002out.1_Missense_Mutation_p.A141S|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.D328Y|PSG7_uc010xwl.1_Missense_Mutation_p.D293Y	25	GBM-06-0152-TP	p.D415Y	C	ATCCACTTACCAGAGACTCTG	NM_002783	NP_002774	43429925	Q13046	PSG7_HUMAN	0			6	1345	-	A	A		Prostate(69;0.00682)	Missense_Mutation	415						
PSG7	5676	broad.mit.edu	GRCh37	19	43433692	43433692	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-2563-01	TCGA-06-2563-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000406070.2:c.611T>A	p.Leu204Gln	p.L204Q	ENST00000406070	NM_002783.2	204	cTa/cAa	0			1			T	L/Q	uc002ovl.3	polymorphic_pseudogene	YES				611/1260										0	c.(610-612)CTA>CAA				pregnancy specific beta-1-glycoprotein 7				ENSP00000421986		6-Mar										6-Mar	.		ENST00000406070	Transcript			female pregnancy	extracellular region		ENSG00000221878	g.chr19:43433692A>T	9524			MODERATE		2.615	medium	getma.org/?cm=msa&ty=f&p=PSG7_HUMAN&rb=148&re=235&var=L204Q	getma.org/pdb.php?prot=PSG7_HUMAN&from=148&to=235&var=L204Q	getma.org/?cm=var&var=hg19,19,43433692,A,T&fts=all	L204Q	--	--	1																																		PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_5'Flank|PSG7_uc002out.1_Missense_Mutation_p.L23Q|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.L82Q		1		probably_damaging(0.947)	p.L204Q	NM_002783	NP_002774		deleterious(0)			PSG7	HGNC	Q13046	PSG7_HUMAN					4	713	-		Prostate(69;0.00682)		204			Ig-like C2-type 1.		SNV	PSG7,non_coding_transcript_exon_variant,,ENST00000599620,;PSG7,upstream_gene_variant,,ENST00000599226,;PSG7,missense_variant,p.Leu204Gln,ENST00000446844,;PSG7,missense_variant,p.Leu204Gln,ENST00000406070,NM_002783.2;	uc002ovl.3	c.611T>A	708/2025	2	2			c.611T>A						19	SNP	c.(610-612)CTA>CAA	43	43				0	Broad	pregnancy specific beta-1-glycoprotein 7			43433692		0.522	ENSG00000221878	12450	g.chr19:43433692A>T	female pregnancy	extracellular region								594.605008	KEEP	114	111	-1	305	291	114	111	-1	627.977767	305	291	0.280724	1	0	0	0	0	1	0	0	0	--	--		0	T			PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_5'Flank|PSG7_uc002out.1_Missense_Mutation_p.L23Q|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.L82Q	86	GBM-06-2563-TP	p.L204Q	A	GACACCAAATAGGTAGAGGGT	NM_002783	NP_002774	43433692	Q13046	PSG7_HUMAN	0			4	713	-	T	T		Prostate(69;0.00682)	Missense_Mutation	204			Ig-like C2-type 1.			
PSG7	0	broad.mit.edu	GRCh37	19	43441294	43441294	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T			TCGA-19-5951-01	TCGA-19-5951-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000406070.2:c.-66G>A		*22*	ENST00000406070	NM_002783.2			0	T:0.0014		1			T		uc002ovl.3	polymorphic_pseudogene	YES				-/1260										0	c.(-67--63)CCGTG>CCATG				pregnancy specific beta-1-glycoprotein 7			T:0.0003	ENSP00000421986		6-Jan									rs374924950	6-Jan	.		ENST00000406070	Transcript			female pregnancy	extracellular region		ENSG00000221878	g.chr19:43441294C>T	9524			MODIFIER								--	--	1																																		PSG3_uc002ouf.2_5'Flank|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Translation_Start_Site		1				NM_002783	NP_002774					PSG7	HGNC	Q13046	PSG7_HUMAN					1	37	-		Prostate(69;0.00682)							SNV	PSG7,non_coding_transcript_exon_variant,,ENST00000471557,;PSG7,upstream_gene_variant,,ENST00000599620,;PSG7,5_prime_UTR_variant,,ENST00000446844,;PSG7,5_prime_UTR_variant,,ENST00000406070,NM_002783.2;	uc002ovl.3	c.-65G>A	32/2025	2	2			c.-65G>A						19	SNP	c.(-67--63)CCGTG>CCATG	24	24				0	Broad	pregnancy specific beta-1-glycoprotein 7			43441294		0.617	ENSG00000221878	12450	g.chr19:43441294C>T	female pregnancy	extracellular region								38.267056	KEEP	6	7	-1	14	12	6	7	-1	39.102414	14	12	0.342105	1	0	0	0	0	0	0	0	0	--	--		0	T			PSG3_uc002ouf.2_5'Flank|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Translation_Start_Site	171	GBM-19-5951-TP		C	TTCCTGAGCACGGCTGTCAGC	NM_002783	NP_002774	43441294	Q13046	PSG7_HUMAN	0			1	37	-	T	T		Prostate(69;0.00682)	Translation_Start_Site							
PSG7	0	broad.mit.edu	GRCh37	19	43439731	43439731	+	synonymous_variant	Silent	SNP	G	G	A	rs140238439	by1000genomes	TCGA-19-5952-01	TCGA-19-5952-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000406070.2:c.255C>T	p.Asp85=	p.D85=	ENST00000406070	NM_002783.2	85	gaC/gaT	0	T:0	A:0	1	A:0		A	D	uc002ovl.3	polymorphic_pseudogene	YES				255/1260										0	c.(253-255)GAC>GAT				pregnancy specific beta-1-glycoprotein 7		A:0.0069	T:0.0001	ENSP00000421986	A:0	6-Feb	0.000486		8.65E-05	0.00532		3.00E-05		0.000607	rs140238439	6-Feb	common_variant		ENST00000406070	Transcript		A:0.0018	female pregnancy	extracellular region		ENSG00000221878	g.chr19:43439731G>A	9524			LOW								--	--	1																																		PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Intron		1			p.D85D	NM_002783	NP_002774	A:0.002				PSG7	HGNC	Q13046	PSG7_HUMAN					2	357	-		Prostate(69;0.00682)		85			Ig-like V-type.		SNV	PSG7,downstream_gene_variant,,ENST00000471557,;PSG7,upstream_gene_variant,,ENST00000599620,;PSG7,synonymous_variant,p.=,ENST00000446844,;PSG7,synonymous_variant,p.=,ENST00000406070,NM_002783.2;	uc002ovl.3	c.255C>T	352/2025	1	1			c.255C>T						19	SNP	c.(253-255)GAC>GAT	57	57				0	Broad	pregnancy specific beta-1-glycoprotein 7			43439731		0.418	ENSG00000221878	12450	g.chr19:43439731G>A	female pregnancy	extracellular region								166.305581	KEEP	75	96	-1	118	186	75	96	-1	194.306816	118	186	0.209497	1	0	0	0	0	0	0	1	0	--	--		0	A			PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Intron	172	GBM-19-5952-TP	p.D85D	G	TTATTTGACCGTCTACTATAT	NM_002783	NP_002774	43439731	Q13046	PSG7_HUMAN	0			2	357	-	A	A		Prostate(69;0.00682)	Silent	85			Ig-like V-type.			
PSG8	440533	broad.mit.edu	GRCh37	19	43269670	43269670	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0122-01	TCGA-06-0122-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306511.4:c.64G>T	p.Ala22Ser	p.A22S	ENST00000306511	NM_182707.2	22	Gca/Tca	0			1			A	A/S	uc002ouo.2	protein_coding	YES	CCDS33037.1			64/1281										0	c.(64-66)GCA>TCA			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR19955:SF116,hmmpanther:PTHR19955	pregnancy specific beta-1-glycoprotein 8 isoform				ENSP00000305005		5-Jan									COSM3404308,COSM3404309	5-Jan	.		ENST00000306511	Transcript				extracellular region		ENSG00000124467	g.chr19:43269670C>A	9525			MODERATE		2.22	medium	getma.org/?cm=msa&ty=f&p=PSG8_HUMAN&rb=1&re=59&var=A22S	NA	getma.org/?cm=var&var=hg19,19,43269670,C,A&fts=all	A22S	--	--	1																																		PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc002oui.2_5'UTR|PSG8_uc002ouh.2_Missense_Mutation_p.A22S|PSG8_uc010ein.2_Missense_Mutation_p.V22L|PSG8_uc002ouj.3_Intron|PSG8_uc002ouk.3_Intron|PSG8_uc002oul.3_Intron|PSG8_uc002oum.3_Intron|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Intron	1,1	1		probably_damaging(0.965)	p.A22S	NM_182707	NP_874366		deleterious(0.02)	1,1	PSG8_HUMAN	PSG8	HGNC	Q9UQ74	PSG8_HUMAN					1	162	-		Prostate(69;0.00899)	UPI0000071471	22					SNV	PSG8,missense_variant,p.Ala22Ser,ENST00000404209,NM_001130167.1;PSG8,missense_variant,p.Val22Leu,ENST00000406636,NM_001130168.1;PSG8,missense_variant,p.Ala22Ser,ENST00000306511,NM_182707.2;PSG8,intron_variant,,ENST00000401467,;PSG8,splice_region_variant,,ENST00000469260,;PSG8,missense_variant,p.Gly22Cys,ENST00000478387,;PSG8,splice_region_variant,,ENST00000593692,;	uc002ouo.2	c.64G>T	162/1441	1	1			c.64G>T						19	SNP	c.(64-66)GCA>TCA	63	63				0	Broad	pregnancy specific beta-1-glycoprotein 8 isoform			43269670		0.552	ENSG00000124467	12451	g.chr19:43269670C>A		extracellular region								10.913319	KEEP	14	12	0.461538462	77	63	14	12	0.461538462	28.069427	77	63	0.107143	1	0	0	0	0	1	0	0	0	--	--		0	A			PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc002oui.2_5'UTR|PSG8_uc002ouh.2_Missense_Mutation_p.A22S|PSG8_uc010ein.2_Missense_Mutation_p.V22L|PSG8_uc002ouj.3_Intron|PSG8_uc002ouk.3_Intron|PSG8_uc002oul.3_Intron|PSG8_uc002oum.3_Intron|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Intron	10	GBM-06-0122-TP	p.A22S	C	CTCTCCTCACCTGTGAGCAGG	NM_182707	NP_874366	43269670	Q9UQ74	PSG8_HUMAN	0			1	162	-	A	A		Prostate(69;0.00899)	Missense_Mutation	22						
PSG8	0	broad.mit.edu	GRCh37	19	43258694	43258694	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs148019273	byFrequency	TCGA-12-5295-01	TCGA-12-5295-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306511.4:c.1034G>A	p.Arg345His	p.R345H	ENST00000306511	NM_182707.2	345	cGt/cAt	0	T:0.0002	T:0	1	T:0		T	R/H	uc002ouo.2	protein_coding	YES	CCDS33037.1			1034/1281										0	c.(1033-1035)CGT>CAT			PROSITE_profiles:PS50835,hmmpanther:PTHR19955:SF116,hmmpanther:PTHR19955,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	pregnancy specific beta-1-glycoprotein 8 isoform		T:0	T:0.0003	ENSP00000305005	T:0	5-May	0.000363	0.000102	8.64E-05		0.000151	0.000287		0.00133	rs148019273,COSM3404304,COSM3404305	5-May	common_variant		ENST00000306511	Transcript		T:0.0010		extracellular region		ENSG00000124467	g.chr19:43258694C>T	9525			MODERATE		0.85	low	getma.org/?cm=msa&ty=f&p=PSG8_HUMAN&rb=334&re=413&var=R345H	getma.org/pdb.php?prot=PSG8_HUMAN&from=334&to=413&var=R345H	getma.org/?cm=var&var=hg19,19,43258694,C,T&fts=all	R345H	--	--	1																																		PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Missense_Mutation_p.R184H|PSG8_uc002ouh.2_Missense_Mutation_p.R345H|PSG8_uc010ein.2_Missense_Mutation_p.R223H|PSG8_uc002ouj.3_Missense_Mutation_p.R127H|PSG8_uc002ouk.3_Missense_Mutation_p.R184H|PSG8_uc002oul.3_Missense_Mutation_p.R345H|PSG8_uc002oum.3_Missense_Mutation_p.R252H|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.R252H	0,1,1	1		benign(0.013)	p.R345H	NM_182707	NP_874366	T:0.0051	tolerated(0.42)	0,1,1	PSG8_HUMAN	PSG8	HGNC	Q9UQ74	PSG8_HUMAN					5	1132	-		Prostate(69;0.00899)	UPI0000071471	345			Ig-like C2-type 3.		SNV	PSG8,missense_variant,p.Arg345His,ENST00000404209,NM_001130167.1;PSG8,missense_variant,p.Arg252His,ENST00000401467,;PSG8,missense_variant,p.Arg223His,ENST00000406636,NM_001130168.1;PSG8,missense_variant,p.Arg345His,ENST00000306511,NM_182707.2;PSG8,non_coding_transcript_exon_variant,,ENST00000600709,;PSG8,downstream_gene_variant,,ENST00000469260,;PSG8,non_coding_transcript_exon_variant,,ENST00000466163,;PSG8,downstream_gene_variant,,ENST00000478387,;	uc002ouo.2	c.1034G>A	1132/1441	1	1			c.1034G>A						19	SNP	c.(1033-1035)CGT>CAT	8	8				0	Broad	pregnancy specific beta-1-glycoprotein 8 isoform			43258694		0.473	ENSG00000124467	12451	g.chr19:43258694C>T		extracellular region								200.920021	KEEP	49	40	-1	110	129	49	40	-1	204.371368	110	129	0.357513	1	0	0	0	0	1	0	0	0	--	--		0	T			PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Missense_Mutation_p.R184H|PSG8_uc002ouh.2_Missense_Mutation_p.R345H|PSG8_uc010ein.2_Missense_Mutation_p.R223H|PSG8_uc002ouj.3_Missense_Mutation_p.R127H|PSG8_uc002ouk.3_Missense_Mutation_p.R184H|PSG8_uc002oul.3_Missense_Mutation_p.R345H|PSG8_uc002oum.3_Missense_Mutation_p.R252H|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.R252H	129	GBM-12-5295-TP	p.R345H	C	TTCTCCTGAACGGTAATAGGT	NM_182707	NP_874366	43258694	Q9UQ74	PSG8_HUMAN	0			5	1132	-	T	T		Prostate(69;0.00899)	Missense_Mutation	345			Ig-like C2-type 3.			
PSG9	5678	broad.mit.edu	GRCh37	19	43766068	43766068	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0185-01	TCGA-06-0185-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000270077.3:c.653A>G	p.Glu218Gly	p.E218G	ENST00000270077	NM_002784.3	218	gAa/gGa	0			1			C	E/G	uc002owd.3	protein_coding	YES	CCDS12618.1			653/1281									ovary(1)|skin(1)	2	c.(652-654)GAA>GGA			Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF126,PROSITE_profiles:PS50835	pregnancy specific beta-1-glycoprotein 9				ENSP00000270077		6-Mar									COSM3404343	6-Mar	.		ENST00000270077	Transcript			female pregnancy	extracellular region		ENSG00000183668	g.chr19:43766068T>C	9526			MODERATE		2.18	medium	getma.org/?cm=msa&ty=f&p=PSG9_HUMAN&rb=148&re=235&var=E218G	getma.org/pdb.php?prot=PSG9_HUMAN&from=148&to=235&var=E218G	getma.org/?cm=var&var=hg19,19,43766068,T,C&fts=all	E218G	--	--	1																																		PSG9_uc002owe.3_Missense_Mutation_p.E218G|PSG9_uc010xwm.1_Intron|PSG9_uc002owf.3_Intron|PSG9_uc002owg.2_Missense_Mutation_p.E218G|PSG9_uc002owh.2_Intron	1	1		probably_damaging(0.997)	p.E218G	NM_002784	NP_002775		tolerated(0.05)	1	PSG9_HUMAN	PSG9	HGNC	Q00887	PSG9_HUMAN			Q9UMH8_HUMAN,Q15461_HUMAN,Q12810_HUMAN		3	752	-		Prostate(69;0.00682)	UPI00001327A5	218			Ig-like C2-type 1.		SNV	PSG9,missense_variant,p.Glu218Gly,ENST00000244293,;PSG9,missense_variant,p.Glu218Gly,ENST00000270077,NM_002784.3;PSG9,missense_variant,p.Glu218Gly,ENST00000593948,;PSG9,intron_variant,,ENST00000596730,;PSG9,intron_variant,,ENST00000418820,;PSG9,intron_variant,,ENST00000443718,;PSG9,intron_variant,,ENST00000291752,;PSG9,upstream_gene_variant,,ENST00000595404,;	uc002owd.3	c.653A>G	750/1705	3	3			c.653A>G						19	SNP	c.(652-654)GAA>GGA	3	3			ovary(1)|skin(1)	2	Broad	pregnancy specific beta-1-glycoprotein 9			43766068		0.512	ENSG00000183668	12452	g.chr19:43766068T>C	female pregnancy	extracellular region								-134.595253	KEEP	8	14	-1	417	425	8	14	-1	42.514304	417	425	0.026573	1	0	0	0	0	1	0	0	0	--	--		0	C			PSG9_uc002owe.3_Missense_Mutation_p.E218G|PSG9_uc010xwm.1_Intron|PSG9_uc002owf.3_Intron|PSG9_uc002owg.2_Missense_Mutation_p.E218G|PSG9_uc002owh.2_Intron	40	GBM-06-0185-TP	p.E218G	T	GTTCCGTATTTCACATTCATA	NM_002784	NP_002775	43766068	Q00887	PSG9_HUMAN	0			3	752	-	C	C		Prostate(69;0.00682)	Missense_Mutation	218			Ig-like C2-type 1.			
PSG9	0	broad.mit.edu	GRCh37	19	43766196	43766196	+	synonymous_variant	Silent	SNP	G	G	A	rs150952802		TCGA-19-5958-01	TCGA-19-5958-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000270077.3:c.525C>T	p.Asp175=	p.D175=	ENST00000270077	NM_002784.3	175	gaC/gaT	0	C:0		1			A	D	uc002owd.3	protein_coding	YES	CCDS12618.1			525/1281									ovary(1)|skin(1)	2	c.(523-525)GAC>GAT			Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF126,PROSITE_profiles:PS50835	pregnancy specific beta-1-glycoprotein 9			C:0.0001	ENSP00000270077		6-Mar	2.47E-05				0.000302	1.50E-05			rs150952802,COSM2156812	6-Mar	.		ENST00000270077	Transcript			female pregnancy	extracellular region		ENSG00000183668	g.chr19:43766196G>A	9526			LOW								--	--	1																																		PSG9_uc002owe.3_Silent_p.D175D|PSG9_uc010xwm.1_Intron|PSG9_uc002owf.3_Intron|PSG9_uc002owg.2_Silent_p.D175D|PSG9_uc002owh.2_Intron	0,1	1			p.D175D	NM_002784	NP_002775			0,1	PSG9_HUMAN	PSG9	HGNC	Q00887	PSG9_HUMAN			Q9UMH8_HUMAN,Q15461_HUMAN,Q12810_HUMAN		3	624	-		Prostate(69;0.00682)	UPI00001327A5	175			Ig-like C2-type 1.		SNV	PSG9,synonymous_variant,p.=,ENST00000244293,;PSG9,synonymous_variant,p.=,ENST00000270077,NM_002784.3;PSG9,synonymous_variant,p.=,ENST00000593948,;PSG9,intron_variant,,ENST00000596730,;PSG9,intron_variant,,ENST00000418820,;PSG9,intron_variant,,ENST00000443718,;PSG9,intron_variant,,ENST00000291752,;PSG9,upstream_gene_variant,,ENST00000595404,;	uc002owd.3	c.525C>T	622/1705	1	1			c.525C>T						19	SNP	c.(523-525)GAC>GAT	60	60			ovary(1)|skin(1)	2	Broad	pregnancy specific beta-1-glycoprotein 9			43766196		0.532	ENSG00000183668	12452	g.chr19:43766196G>A	female pregnancy	extracellular region								301.264981	KEEP	51	62	-1	110	107	51	62	-1	307.634648	110	107	0.346405	1	0	0	0	0	0	0	1	0	--	--		0	A			PSG9_uc002owe.3_Silent_p.D175D|PSG9_uc010xwm.1_Intron|PSG9_uc002owf.3_Intron|PSG9_uc002owg.2_Silent_p.D175D|PSG9_uc002owh.2_Intron	176	GBM-19-5958-TP	p.D175D	G	GGTAGCTTGCGTCCAGAGTCT	NM_002784	NP_002775	43766196	Q00887	PSG9_HUMAN	0			3	624	-	A	A		Prostate(69;0.00682)	Silent	175			Ig-like C2-type 1.			
PSMA3	0	broad.mit.edu	GRCh37	14	58737688	58737688	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-2623-01	TCGA-19-2623-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216455.4:c.695T>C	p.Ile232Thr	p.I232T	ENST00000216455	NM_152132.2	232	aTa/aCa	0			1			C	I/T	uc001xdj.1	protein_coding	YES	CCDS9731.1			695/768										0	c.(694-696)ATA>ACA			Gene3D:3.60.20.10,PROSITE_profiles:PS51475,hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF10,Superfamily_domains:SSF56235	proteasome alpha 3 subunit isoform 1				ENSP00000216455		11-Oct	8.24E-06					1.54E-05			rs772232386,COSM3401366	11-Oct	.		ENST00000216455	Transcript			anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity	ENSG00000100567	g.chr14:58737688T>C	9532			MODERATE		2.305	medium	getma.org/?cm=msa&ty=f&p=PSA3_HUMAN&rb=218&re=255&var=I232T	getma.org/pdb.php?prot=PSA3_HUMAN&from=218&to=255&var=I232T	getma.org/?cm=var&var=hg19,14,58737688,T,C&fts=all	I232T	--	--	1																																		C14orf37_uc010tro.1_Intron|PSMA3_uc001xdk.1_Missense_Mutation_p.I225T|uc001xdl.2_Intron	0,1	1		benign(0.082)	p.I232T	NM_002788	NP_002779		deleterious(0.02)	0,1	PSA3_HUMAN	PSMA3	HGNC	P25788	PSA3_HUMAN			G3V4X5_HUMAN		10	741	+			UPI000000D961	232					SNV	PSMA3,missense_variant,p.Ile232Thr,ENST00000216455,NM_152132.2,NM_002788.3;PSMA3,missense_variant,p.Ile225Thr,ENST00000412908,;PSMA3,missense_variant,p.Ile157Thr,ENST00000557508,;PSMA3,missense_variant,p.Ile60Thr,ENST00000553677,;RP11-349A22.5,intron_variant,,ENST00000554360,;RP11-349A22.5,intron_variant,,ENST00000556002,;RP11-349A22.5,intron_variant,,ENST00000555275,;RP11-349A22.5,intron_variant,,ENST00000554378,;RP11-349A22.5,downstream_gene_variant,,ENST00000557660,;RP11-349A22.5,downstream_gene_variant,,ENST00000555707,;RP11-349A22.5,downstream_gene_variant,,ENST00000556225,;RP11-349A22.5,downstream_gene_variant,,ENST00000556400,;RP11-349A22.5,upstream_gene_variant,,ENST00000555162,;CTD-2002H8.2,downstream_gene_variant,,ENST00000557322,;RP11-349A22.5,downstream_gene_variant,,ENST00000553657,;C14orf37,intron_variant,,ENST00000554218,;PSMA3,3_prime_UTR_variant,,ENST00000557087,;PSMA3,non_coding_transcript_exon_variant,,ENST00000557290,;PSMA3,downstream_gene_variant,,ENST00000554812,;PSMA3,downstream_gene_variant,,ENST00000555743,;PSMA3,downstream_gene_variant,,ENST00000555931,;PSMA3,downstream_gene_variant,,ENST00000554207,;	uc001xdj.1	c.695T>C	785/970	4	4			c.695T>C						14	SNP	c.(694-696)ATA>ACA	41	41				0	Broad	proteasome alpha 3 subunit isoform 1			58737688		0.289	ENSG00000100567	12458	g.chr14:58737688T>C	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity							135.338001	KEEP	19	26	-1	17	14	19	26	-1	135.702271	17	14	0.583333	1	0	0	0	0	1	0	0	0	--	--		0	C			C14orf37_uc010tro.1_Intron|PSMA3_uc001xdk.1_Missense_Mutation_p.I225T|uc001xdl.2_Intron	163	GBM-19-2623-TP	p.I232T	T	CCAAAAGATATAAGAGAAGAA	NM_002788	NP_002779	58737688	P25788	PSA3_HUMAN	0			10	741	+	C	C			Missense_Mutation	232						
PSMA5	5686	broad.mit.edu	GRCh37	1	109964523	109964523	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0132-01	TCGA-06-0132-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271308.4:c.55G>A	p.Gly19Arg	p.G19R	ENST00000271308	NM_002790.3	19	Gga/Aga	0			1			T	G/R	uc001dxn.2	protein_coding	YES	CCDS799.1			55/726										0	c.(55-57)GGA>AGA			Gene3D:3.60.20.10,Pfam_domain:PF10584,PROSITE_patterns:PS00388,hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF14,SMART_domains:SM00948,Superfamily_domains:SSF56235	proteasome alpha 5 subunit				ENSP00000271308		9-Feb									COSM3399525	9-Feb	.		ENST00000271308	Transcript			anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity	ENSG00000143106	g.chr1:109964523C>T	9534			MODERATE		4.965	high	getma.org/?cm=msa&ty=f&p=PSA5_HUMAN&rb=1&re=50&var=G19R	getma.org/pdb.php?prot=PSA5_HUMAN&from=8&to=30&var=G19R	getma.org/?cm=var&var=hg19,1,109964523,C,T&fts=all	G19R	--	--	1																																		PSMA5_uc010ovj.1_Intron	1	1		probably_damaging(1)	p.G19R	NM_002790	NP_002781		deleterious(0)	1	PSA5_HUMAN	PSMA5	HGNC	P28066	PSA5_HUMAN		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)			2	140	-		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	UPI0000026E6B	19					SNV	PSMA5,missense_variant,p.Gly19Arg,ENST00000271308,NM_002790.3;PSMA5,intron_variant,,ENST00000538610,NM_001199772.1,NM_001199773.1,NM_001199774.1;PSMA5,non_coding_transcript_exon_variant,,ENST00000490870,;PSMA5,non_coding_transcript_exon_variant,,ENST00000484563,;	uc001dxn.2	c.55G>A	76/3729	2	2			c.55G>A						1	SNP	c.(55-57)GGA>AGA	24	24				0	Broad	proteasome alpha 5 subunit			109964523		0.348	ENSG00000143106	12460	g.chr1:109964523C>T	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity							29.58927	KEEP	8	7	-1	41	42	8	7	-1	39.336031	41	42	0.159091	1	0	0	0	0	1	0	0	0	--	--		0	T			PSMA5_uc010ovj.1_Intron	17	GBM-06-0132-TP	p.G19R	C	AATAATCTTCCTTCGGGAGAA	NM_002790	NP_002781	109964523	P28066	PSA5_HUMAN	0		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)	2	140	-	T	T		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	Missense_Mutation	19						
PSMA8	0	broad.mit.edu	GRCh37	18	23738210	23738210	+	splice_donor_variant	Splice_Site	SNP	T	T	A			TCGA-14-0813-01	TCGA-14-0813-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308268.6:c.495+2T>A		p.X165_splice	ENST00000308268	NM_144662.2			0			1			A		uc002kvq.2	protein_coding	YES	CCDS32808.1			495/771									skin(1)	1	c.e4+2				proteasome alpha 8 subunit isoform 1				ENSP00000311121											COSM2154759		.		ENST00000308268	Transcript			anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity	ENSG00000154611	g.chr18:23738210T>A	22985			HIGH	6-Apr							--	--	1																																		PSMA8_uc002kvo.2_Splice_Site_p.K121_splice|PSMA8_uc002kvp.2_Splice_Site_p.K159_splice|PSMA8_uc002kvr.2_Splice_Site_p.K133_splice	1	1			p.K165_splice	NM_144662	NP_653263			1	PSA7L_HUMAN	PSMA8	HGNC	Q8TAA3	PSA7L_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)				4	609	+	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		UPI000013ECFF						SNV	PSMA8,splice_donor_variant,,ENST00000308268,NM_144662.2,NM_001025096.1;PSMA8,splice_donor_variant,,ENST00000343848,NM_001025097.1;PSMA8,splice_donor_variant,,ENST00000415576,;PSMA8,splice_donor_variant,,ENST00000538664,;	uc002kvq.2	c.495_splice	-/1804	5	2			c.495_splice						18	SNP	c.e4+2	24	24			skin(1)	1	Broad	proteasome alpha 8 subunit isoform 1			23738210		0.299	ENSG00000154611	12463	g.chr18:23738210T>A	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity							313.672748	KEEP	63	41	-1	91	94	63	41	-1	317.09841	91	94	0.377863	1	0	0	0	0	0	0	0	1	--	--		0	A			PSMA8_uc002kvo.2_Splice_Site_p.K121_splice|PSMA8_uc002kvp.2_Splice_Site_p.K159_splice|PSMA8_uc002kvr.2_Splice_Site_p.K133_splice	138	GBM-14-0813-TP	p.K165_splice	T	GCTTGGAAGGTGAGTCATGAA	NM_144662	NP_653263	23738210	Q8TAA3	PSA7L_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)		4	609	+	A	A	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		Splice_Site							
PSMB8	5696	broad.mit.edu	GRCh37	6	32809494	32809494	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs78945358	by1000genomes	TCGA-06-0129-01	TCGA-06-0129-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374882.3:c.556G>A	p.Val186Met	p.V186M	ENST00000374882	NM_148919.3	186	Gtg/Atg	0		T:0.0008	1	T:0		T	V/M	uc003oce.2	protein_coding	YES	CCDS4757.1			556/831									skin(1)	1	c.(556-558)GTG>ATG			Gene3D:3.60.20.10,Pfam_domain:PF00227,PROSITE_profiles:PS51476,hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF53,Superfamily_domains:SSF56235	proteasome beta 8 subunit isoform E2 proprotein		T:0.002		ENSP00000364016	T:0	6-May	5.97E-05	0.000113		0.00071					rs78945358,COSM373218,COSM373217	6-May	common_variant		ENST00000374882	Transcript	1	T:0.0006	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity	ENSG00000204264	g.chr6:32809494C>T	9545			MODERATE		3.31	medium	getma.org/?cm=msa&ty=f&p=PSB8_HUMAN&rb=69&re=251&var=V186M	getma.org/pdb.php?prot=PSB8_HUMAN&from=69&to=251&var=V186M	getma.org/?cm=var&var=hg19,6,32809494,C,T&fts=all	V186M	--	--	1																																		TAP2_uc011dqf.1_5'Flank|TAP2_uc003ocb.1_5'Flank|TAP2_uc003ocd.2_5'Flank|PSMB8_uc003ocf.2_Missense_Mutation_p.V182M	0,1,1	1		probably_damaging(0.988)	p.V186M	NM_148919	NP_683720	T:0	deleterious(0)	0,1,1	PSB8_HUMAN	PSMB8	HGNC	P28062	PSB8_HUMAN					5	599	-			UPI0000140B8A	186					SNV	PSMB8,missense_variant,p.Val182Met,ENST00000374881,NM_004159.4;PSMB8,missense_variant,p.Val186Met,ENST00000374882,NM_148919.3;PSMB8,missense_variant,p.Val162Met,ENST00000395339,;TAP2,upstream_gene_variant,,ENST00000374897,NM_000544.3;TAP1,downstream_gene_variant,,ENST00000354258,NM_000593.5;TAP2,upstream_gene_variant,,ENST00000452392,;TAP2,upstream_gene_variant,,ENST00000374899,NM_018833.2;TAP1,downstream_gene_variant,,ENST00000425148,;PSMB9,upstream_gene_variant,,ENST00000395330,;PSMB9,upstream_gene_variant,,ENST00000414474,;TAPSAR1,upstream_gene_variant,,ENST00000453426,;TAPSAR1,upstream_gene_variant,,ENST00000412095,;TAPSAR1,upstream_gene_variant,,ENST00000429600,;TAPSAR1,upstream_gene_variant,,ENST00000458296,;TAPSAR1,upstream_gene_variant,,ENST00000413039,;TAPSAR1,upstream_gene_variant,,ENST00000415067,;PSMB8,non_coding_transcript_exon_variant,,ENST00000484003,;PSMB8,non_coding_transcript_exon_variant,,ENST00000490613,;TAP1,downstream_gene_variant,,ENST00000486332,;TAP1,downstream_gene_variant,,ENST00000487296,;	uc003oce.2	c.556G>A	607/1124	2	2			c.556G>A						6	SNP	c.(556-558)GTG>ATG	25	25			skin(1)	1	Broad	proteasome beta 8 subunit isoform E2 proprotein			32809494		0.463	ENSG00000204264	12473	g.chr6:32809494C>T	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity	NSCLC(48;53 1172 10859 13624 22883)			NSCLC(48;53 1172 10859 13624 22883)			96.559926	KEEP	23	17	-1	78	59	23	17	-1	107.031227	78	59	0.236364	1	0	0	0	0	1	0	0	0	--	--		0	T			TAP2_uc011dqf.1_5'Flank|TAP2_uc003ocb.1_5'Flank|TAP2_uc003ocd.2_5'Flank|PSMB8_uc003ocf.2_Missense_Mutation_p.V182M	15	GBM-06-0129-TP	p.V186M	C	TGTTCATCCACGTAGTAGAGT	NM_148919	NP_683720	32809494	P28062	PSB8_HUMAN	0			5	599	-	T	T			Missense_Mutation	186						
PSMC1	5700	broad.mit.edu	GRCh37	14	90736610	90736610	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261303.8:c.1102C>T	p.His368Tyr	p.H368Y	ENST00000261303	NM_002802.2	368	Cac/Tac	0			1			T	H/Y	uc001xyf.2	protein_coding	YES	CCDS32139.1			1102/1323										0	c.(1102-1104)CAC>TAC			Superfamily_domains:SSF52540,Gene3D:1.10.8.60,TIGRFAM_domain:TIGR01242,hmmpanther:PTHR23073:SF9,hmmpanther:PTHR23073	proteasome 26S ATPase subunit 1				ENSP00000261303		11-Oct									COSM3401510	11-Oct	.		ENST00000261303	Transcript			anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	ENSG00000100764	g.chr14:90736610C>T	9547			MODERATE		2.975	medium	getma.org/?cm=msa&ty=f&p=PRS4_HUMAN&rb=356&re=440&var=H368Y	getma.org/pdb.php?prot=PRS4_HUMAN&from=356&to=440&var=H368Y	getma.org/?cm=var&var=hg19,14,90736610,C,T&fts=all	H368Y	--	--	1																																		PSMC1_uc001xyg.2_Missense_Mutation_p.H295Y|PSMC1_uc001xyh.2_Missense_Mutation_p.H295Y	1	1		probably_damaging(0.961)	p.H368Y	NM_002802	NP_002793		deleterious(0.02)	1	PRS4_HUMAN	PSMC1	HGNC	P62191	PRS4_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	Q53XL8_HUMAN,G3V4X1_HUMAN,B4DR63_HUMAN		10	1150	+		all_cancers(154;0.142)	UPI00000041A5	368					SNV	PSMC1,missense_variant,p.His368Tyr,ENST00000261303,NM_002802.2;PSMC1,missense_variant,p.His295Tyr,ENST00000543772,;PSMC1,downstream_gene_variant,,ENST00000553835,;PSMC1,non_coding_transcript_exon_variant,,ENST00000555787,;	uc001xyf.2	c.1102C>T	1205/1641	2	2			c.1102C>T						14	SNP	c.(1102-1104)CAC>TAC	17	17				0	Broad	proteasome 26S ATPase subunit 1			90736610		0.502	ENSG00000100764	12475	g.chr14:90736610C>T	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding							57.011644	KEEP	6	21	-1	50	44	6	21	-1	64.151793	50	44	0.231481	1	0	0	0	0	1	0	0	0	--	--		0	T			PSMC1_uc001xyg.2_Missense_Mutation_p.H295Y|PSMC1_uc001xyh.2_Missense_Mutation_p.H295Y	46	GBM-06-0209-TP	p.H368Y	C	CTTTCAGATTCACACAAGCAG	NM_002802	NP_002793	90736610	P62191	PRS4_HUMAN	0		COAD - Colon adenocarcinoma(157;0.21)	10	1150	+	T	T		all_cancers(154;0.142)	Missense_Mutation	368						
PSMC3	0	broad.mit.edu	GRCh37	11	47446172	47446173	+	frameshift_variant	Frame_Shift_Del	DEL	TT	TT	-			TCGA-19-2629-01	TCGA-19-2629-01	TT	TT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298852.3:c.375_376delAA	p.Lys125AsnfsTer18	p.K125Nfs*18	ENST00000298852	NM_002804.4	125	aaAAcc/aacc	0			1			-	KT/NX	uc001nfh.2	protein_coding	YES	CCDS7935.1			375-376/1320									ovary(4)	4	c.(373-378)AAAACCfs			hmmpanther:PTHR23073,hmmpanther:PTHR23073:SF7,TIGRFAM_domain:TIGR01242	proteasome 26S ATPase subunit 3				ENSP00000298852		12-Apr									COSM2156331	12-Apr	.		ENST00000298852	Transcript			anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity	ENSG00000165916	g.chr11:47446172_47446173delTT	9549			HIGH								--	--	1																																		PSMC3_uc009ylr.1_Frame_Shift_Del_p.K83fs	1	1			p.K125fs	NM_002804	NP_002795			1	PRS6A_HUMAN	PSMC3	HGNC	P17980	PRS6A_HUMAN		Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)	R4GNH3_HUMAN		4	569_570	-			UPI0000132389	125_126					deletion	PSMC3,frameshift_variant,p.Lys125AsnfsTer18,ENST00000298852,NM_002804.4;PSMC3,frameshift_variant,p.Lys83AsnfsTer18,ENST00000530912,;PSMC3,frameshift_variant,p.Lys109AsnfsTer18,ENST00000602866,;PSMC3,frameshift_variant,p.Lys107AsnfsTer18,ENST00000524447,;PSMC3,frameshift_variant,p.Lys132AsnfsTer18,ENST00000530651,;PSMC3,frameshift_variant,p.Lys111AsnfsTer23,ENST00000531051,;PSMC3,frameshift_variant,p.Lys142AsnfsTer18,ENST00000526993,;PSMC3,3_prime_UTR_variant,,ENST00000530887,;PSMC3,3_prime_UTR_variant,,ENST00000527906,;PSMC3,non_coding_transcript_exon_variant,,ENST00000528362,;PSMC3,non_coding_transcript_exon_variant,,ENST00000531653,;PSMC3,downstream_gene_variant,,ENST00000529500,;	uc001nfh.2	c.375_376delAA	533-534/1544	5	5			c.375_376delAA						11	DEL	c.(373-378)AAAACCfs	35	35			ovary(4)	4	Broad	proteasome 26S ATPase subunit 3			47446173		0.545	ENSG00000165916	12477	g.chr11:47446172_47446173delTT	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity																				0.35	1	1	0	1	0	0	0	0	0	--	--		0	-			PSMC3_uc009ylr.1_Frame_Shift_Del_p.K83fs	166	GBM-19-2629-TP	p.K125fs	TT	CGTGTAGAGGTTTTGATCACAG	NM_002804	NP_002795	47446172	P17980	PRS6A_HUMAN	0		Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)	4	569_570	-	-	-			Frame_Shift_Del	125_126						
PSMD4	0	broad.mit.edu	GRCh37	1	151237667	151237667	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-5216-01	TCGA-28-5216-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368884.3:c.395A>G	p.Lys132Arg	p.K132R	ENST00000368884	NM_002810.2	132	aAg/aGg	0			1			G	K/R	uc001exl.2	protein_coding	YES	CCDS991.1			395/1134										0	c.(394-396)AAG>AGG			Superfamily_domains:SSF53300,SMART_domains:SM00327,Pfam_domain:PF13519,Gene3D:3.40.50.410,hmmpanther:PTHR10223,PROSITE_profiles:PS50234,Coiled-coils_(Ncoils):Coil	proteasome 26S non-ATPase subunit 4				ENSP00000357879		10-May									COSM3399694	10-May	.		ENST00000368884	Transcript			anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding	ENSG00000159352	g.chr1:151237667A>G	9561			MODERATE		2.355	medium	getma.org/?cm=msa&ty=f&p=PSMD4_HUMAN&rb=5&re=184&var=K132R	getma.org/pdb.php?prot=PSMD4_HUMAN&from=5&to=184&var=K132R	getma.org/?cm=var&var=hg19,1,151237667,A,G&fts=all	K132R	--	--	1																																		PSMD4_uc001exn.2_Missense_Mutation_p.K132R	1	1		possibly_damaging(0.766)	p.K132R	NM_002810	NP_002801		deleterious(0.02)	1	PSMD4_HUMAN	PSMD4	HGNC	P55036	PSMD4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		A6PVX3_HUMAN		5	457	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UPI0000038DA5	132			VWFA.		SNV	PSMD4,missense_variant,p.Lys132Arg,ENST00000368884,NM_002810.2;PSMD4,missense_variant,p.Lys132Arg,ENST00000368881,;PSMD4,missense_variant,p.Lys117Arg,ENST00000437736,;PSMD4,missense_variant,p.Lys20Arg,ENST00000445776,;PSMD4,upstream_gene_variant,,ENST00000453615,;PSMD4,downstream_gene_variant,,ENST00000469786,;PSMD4,non_coding_transcript_exon_variant,,ENST00000476855,;PSMD4,non_coding_transcript_exon_variant,,ENST00000462970,;PSMD4,downstream_gene_variant,,ENST00000461434,;PSMD4,upstream_gene_variant,,ENST00000427779,;PSMD4,upstream_gene_variant,,ENST00000491857,;PSMD4,upstream_gene_variant,,ENST00000470396,;	uc001exl.2	c.395A>G	475/1350	4	4			c.395A>G						1	SNP	c.(394-396)AAG>AGG	32	32				0	Broad	proteasome 26S non-ATPase subunit 4			151237667		0.453	ENSG00000159352	12490	g.chr1:151237667A>G	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding							-6.106154	KEEP	2	3	-1	48	56	2	3	-1	13.703749	48	56	0.053191	1	0	0	0	0	1	0	0	0	--	--		0	G			PSMD4_uc001exn.2_Missense_Mutation_p.K132R	223	GBM-28-5216-TP	p.K132R	A	AAACGCCTCAAGAAGGAGAAA	NM_002810	NP_002801	151237667	P55036	PSMD4_HUMAN	0	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		5	457	+	G	G	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		Missense_Mutation	132			VWFA.			
PSORS1C1	170679	broad.mit.edu	GRCh37	6	31106528	31106528	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0213-01	TCGA-06-0213-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259881.9:c.139T>C	p.Cys47Arg	p.C47R	ENST00000259881	NM_014068.2	47	Tgc/Cgc	0			1			C	C/R	uc003nsl.1	protein_coding	YES	CCDS34390.1			139/459									ovary(1)	1	c.(139-141)TGC>CGC			Pfam_domain:PF15357	SEEK1 protein				ENSP00000259881		6-May									COSM2150809	6-May	.		ENST00000259881	Transcript						ENSG00000204540	g.chr6:31106528T>C	17202			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=PS1C1_HUMAN&rb=1&re=150&var=C47R	NA	getma.org/?cm=var&var=hg19,6,31106528,T,C&fts=all	C47R	--	--	1																																		PSORS1C1_uc010jsj.1_Intron|PSORS1C1_uc003nsn.1_Intron|PSORS1C2_uc003nso.3_Intron	1	1		benign(0.016)	p.C47R	NM_014068	NP_054787		deleterious_low_confidence(0)	1	PS1C1_HUMAN	PSORS1C1	HGNC	Q9UIG5	PS1C1_HUMAN			Q2M3K9_HUMAN,D2IYL0_HUMAN		5	413	+			UPI00004702D2	47					SNV	PSORS1C1,missense_variant,p.Cys47Arg,ENST00000259881,NM_014068.2;PSORS1C1,5_prime_UTR_variant,,ENST00000547221,;PSORS1C2,intron_variant,,ENST00000259845,NM_014069.2;PSORS1C1,intron_variant,,ENST00000481450,;CCHCR1,downstream_gene_variant,,ENST00000396268,NM_001105563.1,NM_001105564.1;CCHCR1,downstream_gene_variant,,ENST00000376266,NM_019052.3;CCHCR1,downstream_gene_variant,,ENST00000451521,;CCHCR1,downstream_gene_variant,,ENST00000396263,;PSORS1C1,intron_variant,,ENST00000479581,;PSORS1C1,non_coding_transcript_exon_variant,,ENST00000552747,;CCHCR1,downstream_gene_variant,,ENST00000467553,;CCHCR1,downstream_gene_variant,,ENST00000486060,;PSORS1C1,downstream_gene_variant,,ENST00000550838,;POLR2LP,upstream_gene_variant,,ENST00000444785,;	uc003nsl.1	c.139T>C	428/908	3	3			c.139T>C						6	SNP	c.(139-141)TGC>CGC	6	6			ovary(1)	1	Broad	SEEK1 protein			31106528		0.557	ENSG00000204540	12504	g.chr6:31106528T>C										212.102054	KEEP	42	44	-1	91	90	42	44	-1	218.781887	91	90	0.318777	1	0	0	0	0	1	0	0	0	--	--		0	C			PSORS1C1_uc010jsj.1_Intron|PSORS1C1_uc003nsn.1_Intron|PSORS1C2_uc003nso.3_Intron	49	GBM-06-0213-TP	p.C47R	T	TGACCGACTTTGCCACATGGA	NM_014068	NP_054787	31106528	Q9UIG5	PS1C1_HUMAN	0			5	413	+	C	C			Missense_Mutation	47						
PSPH	5723	broad.mit.edu	GRCh37	7	56085002	56085002	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01	TCGA-06-0185-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395471.3:c.346G>A	p.Val116Ile	p.V116I	ENST00000395471		116	Gta/Ata	0			1			T	V/I	uc003trg.2	protein_coding		CCDS5522.1			346/678									ovary(1)|skin(1)	2	c.(346-348)GTA>ATA			Superfamily_domains:SSF56784,TIGRFAM_domain:TIGR01488,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR00338,Pfam_domain:PF12710,hmmpanther:PTHR10000,hmmpanther:PTHR10000:SF7	phosphoserine phosphatase				ENSP00000275605		8-Jun	1.65E-05				0.000151			6.06E-05	rs751400364,COSM747393	8-Jun	.		ENST00000275605	Transcript	1		L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	ENSG00000146733	g.chr7:56085002C>T	9577			MODERATE		-0.11	neutral	getma.org/?cm=msa&ty=f&p=SERB_HUMAN&rb=14&re=191&var=V116I	getma.org/pdb.php?prot=SERB_HUMAN&from=14&to=191&var=V116I	getma.org/?cm=var&var=hg19,7,56085002,C,T&fts=all	V116I	--	--	1																																		PSPH_uc003trh.2_Missense_Mutation_p.V116I|PSPH_uc003tri.2_Missense_Mutation_p.V116I|PSPH_uc003trj.2_Missense_Mutation_p.V145I	0,1			benign(0.135)	p.V116I	NM_004577	NP_004568		tolerated(1)	0,1	SERB_HUMAN	PSPH	HGNC	P78330	SERB_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		C9JEJ7_HUMAN,C9JBI3_HUMAN		5	709	-	Breast(14;0.214)		UPI000013DA6D	116					SNV	PSPH,missense_variant,p.Val116Ile,ENST00000395471,;PSPH,missense_variant,p.Val116Ile,ENST00000275605,NM_004577.3;PSPH,missense_variant,p.Val116Ile,ENST00000421626,;PSPH,downstream_gene_variant,,ENST00000419984,;PSPH,downstream_gene_variant,,ENST00000416592,;PSPH,downstream_gene_variant,,ENST00000421312,;PSPH,downstream_gene_variant,,ENST00000424596,;PSPH,downstream_gene_variant,,ENST00000413218,;PSPH,intron_variant,,ENST00000459834,;PSPH,missense_variant,p.Val116Ile,ENST00000437355,;PSPH,3_prime_UTR_variant,,ENST00000427797,;	uc003trg.2	c.346G>A	1104/2131	1	1			c.346G>A						7	SNP	c.(346-348)GTA>ATA	6	6			ovary(1)|skin(1)	2	Broad	phosphoserine phosphatase			56085002		0.393	ENSG00000146733	12507	g.chr7:56085002C>T	L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity							-20.539539	KEEP	3	3	-1	74	61	3	3	-1	7.986526	74	61	0.04	1	0	0	0	0	1	0	0	0	--	--		0	T			PSPH_uc003trh.2_Missense_Mutation_p.V116I|PSPH_uc003tri.2_Missense_Mutation_p.V116I|PSPH_uc003trj.2_Missense_Mutation_p.V145I	40	GBM-06-0185-TP	p.V116I	C	ACATGCTCTACAATACTCCTA	NM_004577	NP_004568	56085002	P78330	SERB_HUMAN	0	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		5	709	-	T	T	Breast(14;0.214)		Missense_Mutation	116						
PSPH	5723	broad.mit.edu	GRCh37	7	56085002	56085002	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01	TCGA-06-5413-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395471.3:c.346G>A	p.Val116Ile	p.V116I	ENST00000395471		116	Gta/Ata	0			1			T	V/I	uc003trg.2	protein_coding		CCDS5522.1			346/678									ovary(1)|skin(1)	2	c.(346-348)GTA>ATA			Superfamily_domains:SSF56784,TIGRFAM_domain:TIGR01488,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR00338,Pfam_domain:PF12710,hmmpanther:PTHR10000,hmmpanther:PTHR10000:SF7	phosphoserine phosphatase				ENSP00000275605		8-Jun	1.65E-05				0.000151			6.06E-05	rs751400364,COSM747393	8-Jun	.		ENST00000275605	Transcript	1		L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	ENSG00000146733	g.chr7:56085002C>T	9577			MODERATE		-0.11	neutral	getma.org/?cm=msa&ty=f&p=SERB_HUMAN&rb=14&re=191&var=V116I	getma.org/pdb.php?prot=SERB_HUMAN&from=14&to=191&var=V116I	getma.org/?cm=var&var=hg19,7,56085002,C,T&fts=all	V116I	--	--	1																																		PSPH_uc003trh.2_Missense_Mutation_p.V116I|PSPH_uc003tri.2_Missense_Mutation_p.V116I|PSPH_uc003trj.2_Missense_Mutation_p.V145I	0,1			benign(0.135)	p.V116I	NM_004577	NP_004568		tolerated(1)	0,1	SERB_HUMAN	PSPH	HGNC	P78330	SERB_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		C9JEJ7_HUMAN,C9JBI3_HUMAN		5	709	-	Breast(14;0.214)		UPI000013DA6D	116					SNV	PSPH,missense_variant,p.Val116Ile,ENST00000395471,;PSPH,missense_variant,p.Val116Ile,ENST00000275605,NM_004577.3;PSPH,missense_variant,p.Val116Ile,ENST00000421626,;PSPH,downstream_gene_variant,,ENST00000419984,;PSPH,downstream_gene_variant,,ENST00000416592,;PSPH,downstream_gene_variant,,ENST00000421312,;PSPH,downstream_gene_variant,,ENST00000424596,;PSPH,downstream_gene_variant,,ENST00000413218,;PSPH,intron_variant,,ENST00000459834,;PSPH,missense_variant,p.Val116Ile,ENST00000437355,;PSPH,3_prime_UTR_variant,,ENST00000427797,;	uc003trg.2	c.346G>A	1104/2131	1	1			c.346G>A						7	SNP	c.(346-348)GTA>ATA	6	6			ovary(1)|skin(1)	2	Broad	phosphoserine phosphatase			56085002		0.393	ENSG00000146733	12507	g.chr7:56085002C>T	L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity							-7.365965	KEEP	5	1	-1	40	38	5	1	-1	8.155326	40	38	0.054054	1	0	0	0	0	1	0	0	0	--	--		0	T			PSPH_uc003trh.2_Missense_Mutation_p.V116I|PSPH_uc003tri.2_Missense_Mutation_p.V116I|PSPH_uc003trj.2_Missense_Mutation_p.V145I	96	GBM-06-5413-TP	p.V116I	C	ACATGCTCTACAATACTCCTA	NM_004577	NP_004568	56085002	P78330	SERB_HUMAN	0	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		5	709	-	T	T	Breast(14;0.214)		Missense_Mutation	116						
PSPH	0	broad.mit.edu	GRCh37	7	56085002	56085002	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01	TCGA-19-5954-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275605.3:c.346G>A	p.Val116Ile	p.V116I	ENST00000275605	NM_004577.3	116	Gta/Ata	0			1			T	V/I	uc003trg.2	protein_coding		CCDS5522.1			346/678									ovary(1)|skin(1)	2	c.(346-348)GTA>ATA			Superfamily_domains:SSF56784,TIGRFAM_domain:TIGR01488,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR00338,Pfam_domain:PF12710,hmmpanther:PTHR10000,hmmpanther:PTHR10000:SF7	phosphoserine phosphatase				ENSP00000275605		8-Jun	1.65E-05				0.000151			6.06E-05	rs751400364,COSM747393	8-Jun	.		ENST00000275605	Transcript	1		L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	ENSG00000146733	g.chr7:56085002C>T	9577			MODERATE		-0.11	neutral	getma.org/?cm=msa&ty=f&p=SERB_HUMAN&rb=14&re=191&var=V116I	getma.org/pdb.php?prot=SERB_HUMAN&from=14&to=191&var=V116I	getma.org/?cm=var&var=hg19,7,56085002,C,T&fts=all	V116I	--	--	1																																		PSPH_uc003trh.2_Missense_Mutation_p.V116I|PSPH_uc003tri.2_Missense_Mutation_p.V116I|PSPH_uc003trj.2_Missense_Mutation_p.V145I	0,1			benign(0.135)	p.V116I	NM_004577	NP_004568		tolerated(1)	0,1	SERB_HUMAN	PSPH	HGNC	P78330	SERB_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		C9JEJ7_HUMAN,C9JBI3_HUMAN		5	709	-	Breast(14;0.214)		UPI000013DA6D	116					SNV	PSPH,missense_variant,p.Val116Ile,ENST00000395471,;PSPH,missense_variant,p.Val116Ile,ENST00000275605,NM_004577.3;PSPH,missense_variant,p.Val116Ile,ENST00000421626,;PSPH,downstream_gene_variant,,ENST00000419984,;PSPH,downstream_gene_variant,,ENST00000416592,;PSPH,downstream_gene_variant,,ENST00000421312,;PSPH,downstream_gene_variant,,ENST00000424596,;PSPH,downstream_gene_variant,,ENST00000413218,;PSPH,intron_variant,,ENST00000459834,;PSPH,missense_variant,p.Val116Ile,ENST00000437355,;PSPH,3_prime_UTR_variant,,ENST00000427797,;	uc003trg.2	c.346G>A	1104/2131	1	1			c.346G>A						7	SNP	c.(346-348)GTA>ATA	6	6			ovary(1)|skin(1)	2	Broad	phosphoserine phosphatase			56085002		0.393	ENSG00000146733	12507	g.chr7:56085002C>T	L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity							-36.932515	KEEP	3	9	-1	103	112	3	9	-1	10.431815	103	112	0.030612	1	0	0	0	0	1	0	0	0	--	--		0	T			PSPH_uc003trh.2_Missense_Mutation_p.V116I|PSPH_uc003tri.2_Missense_Mutation_p.V116I|PSPH_uc003trj.2_Missense_Mutation_p.V145I	174	GBM-19-5954-TP	p.V116I	C	ACATGCTCTACAATACTCCTA	NM_004577	NP_004568	56085002	P78330	SERB_HUMAN	0	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		5	709	-	T	T	Breast(14;0.214)		Missense_Mutation	116						
PSPH	0	broad.mit.edu	GRCh37	7	56087292	56087292	+	splice_donor_variant	Splice_Site	DEL	C	C	-			TCGA-28-5204-01	TCGA-28-5204-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275605.3:c.275+1delG		p.X92_splice	ENST00000275605	NM_004577.3			0			1			-		uc003trg.2	protein_coding		CCDS5522.1			275/678									ovary(1)|skin(1)	2	c.e4+1				phosphoserine phosphatase				ENSP00000275605			0.00558	0.0173	0.00105	0.00435	0.00247	0.00139	0.00452	0.0154	rs139106189,COSM1622999		common_variant		ENST00000275605	Transcript	1		L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	ENSG00000146733	g.chr7:56087292delC	9577			HIGH	7-May							--	--	1																																		PSPH_uc003trh.2_Splice_Site_p.R92_splice|PSPH_uc003tri.2_Splice_Site_p.R92_splice|PSPH_uc003trj.2_Splice_Site_p.R121_splice	0,1				p.R92_splice	NM_004577	NP_004568			0,1	SERB_HUMAN	PSPH	HGNC	P78330	SERB_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		C9JEJ7_HUMAN,C9JBI3_HUMAN		4	638	-	Breast(14;0.214)		UPI000013DA6D						deletion	PSPH,splice_donor_variant,,ENST00000395471,;PSPH,splice_donor_variant,,ENST00000275605,NM_004577.3;PSPH,splice_donor_variant,,ENST00000421626,;PSPH,downstream_gene_variant,,ENST00000419984,;PSPH,downstream_gene_variant,,ENST00000416592,;PSPH,downstream_gene_variant,,ENST00000421312,;PSPH,downstream_gene_variant,,ENST00000424596,;PSPH,downstream_gene_variant,,ENST00000413218,;PSPH,intron_variant,,ENST00000459834,;PSPH,splice_donor_variant,,ENST00000437355,;PSPH,splice_donor_variant,,ENST00000427797,;	uc003trg.2	c.275_splice	-/2131	5	5			c.275_splice						7	DEL	c.e4+1	58	58			ovary(1)|skin(1)	2	Broad	phosphoserine phosphatase			56087292		0.577	ENSG00000146733	12507	g.chr7:56087292delC	L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity																				0.04	1	1	0	1	0	0	0	0	1	--	--		0	-			PSPH_uc003trh.2_Splice_Site_p.R92_splice|PSPH_uc003tri.2_Splice_Site_p.R92_splice|PSPH_uc003trj.2_Splice_Site_p.R121_splice	215	GBM-28-5204-TP	p.R92_splice	C	GTTCCTCTTACCTTATGCCGG	NM_004577	NP_004568	56087292	P78330	SERB_HUMAN	0	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		4	638	-	-	-	Breast(14;0.214)		Splice_Site							
PSPH	0	broad.mit.edu	GRCh37	7	56088826	56088826	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-1970-01	TCGA-32-1970-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275605.3:c.80G>C	p.Arg27Thr	p.R27T	ENST00000275605	NM_004577.3	27	aGa/aCa	0			1			G	R/T	uc003trg.2	protein_coding		CCDS5522.1			80/678									ovary(1)|skin(1)	2	c.(79-81)AGA>ACA			Superfamily_domains:SSF56784,TIGRFAM_domain:TIGR01488,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR00338,Pfam_domain:PF12710,hmmpanther:PTHR10000,hmmpanther:PTHR10000:SF7	phosphoserine phosphatase				ENSP00000275605		8-Apr									COSM3412211	8-Apr	.		ENST00000275605	Transcript	1		L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	ENSG00000146733	g.chr7:56088826C>G	9577			MODERATE		0.26	neutral	getma.org/?cm=msa&ty=f&p=SERB_HUMAN&rb=14&re=191&var=R27T	getma.org/pdb.php?prot=SERB_HUMAN&from=14&to=191&var=R27T	getma.org/?cm=var&var=hg19,7,56088826,C,G&fts=all	R27T	--	--	1																																		PSPH_uc003trh.2_Missense_Mutation_p.R27T|PSPH_uc003tri.2_Missense_Mutation_p.R27T|PSPH_uc003trj.2_Missense_Mutation_p.R56T	1			benign(0.029)	p.R27T	NM_004577	NP_004568		tolerated(0.6)	1	SERB_HUMAN	PSPH	HGNC	P78330	SERB_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		C9JEJ7_HUMAN,C9JBI3_HUMAN		3	443	-	Breast(14;0.214)		UPI000013DA6D	27					SNV	PSPH,missense_variant,p.Arg27Thr,ENST00000395471,;PSPH,missense_variant,p.Arg27Thr,ENST00000275605,NM_004577.3;PSPH,missense_variant,p.Arg27Thr,ENST00000421626,;PSPH,missense_variant,p.Arg27Thr,ENST00000419984,;PSPH,missense_variant,p.Arg27Thr,ENST00000421312,;PSPH,downstream_gene_variant,,ENST00000416592,;PSPH,downstream_gene_variant,,ENST00000424596,;PSPH,downstream_gene_variant,,ENST00000413218,;PSPH,intron_variant,,ENST00000459834,;PSPH,missense_variant,p.Arg27Thr,ENST00000437355,;PSPH,missense_variant,p.Arg27Thr,ENST00000427797,;	uc003trg.2	c.80G>C	838/2131	3	3			c.80G>C						7	SNP	c.(79-81)AGA>ACA	7	7			ovary(1)|skin(1)	2	Broad	phosphoserine phosphatase			56088826		0.448	ENSG00000146733	12507	g.chr7:56088826C>G	L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity							754.134793	KEEP	132	145	-1	347	376	132	145	-1	794.859931	347	376	0.276549	1	0	0	0	0	1	0	0	0	--	--		0	G			PSPH_uc003trh.2_Missense_Mutation_p.R27T|PSPH_uc003tri.2_Missense_Mutation_p.R27T|PSPH_uc003trj.2_Missense_Mutation_p.R56T	228	GBM-32-1970-TP	p.R27T	C	TCCTTCTTCTCTGATGACCGT	NM_004577	NP_004568	56088826	P78330	SERB_HUMAN	0	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		3	443	-	G	G	Breast(14;0.214)		Missense_Mutation	27						
PSRC1	0	broad.mit.edu	GRCh37	1	109823399	109823399	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409138.2:c.994G>A	p.Val332Ile	p.V332I	ENST00000409138		332	Gtt/Att	0			1			T	V/I	uc001dxg.2	protein_coding					994/1092										0	c.(994-996)GTT>ATT			hmmpanther:PTHR21584,hmmpanther:PTHR21584:SF1	proline/serine-rich coiled-coil 1 isoform c				ENSP00000474667		7-May									COSM2154794,COSM3399524	7-May	.		ENST00000409138	Transcript			cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding	ENSG00000134222	g.chr1:109823399C>T	24472			MODERATE								--	--	1																																		PSRC1_uc001dxb.2_Missense_Mutation_p.V132I|PSRC1_uc001dxc.2_Missense_Mutation_p.V302I|PSRC1_uc001dxd.2_Missense_Mutation_p.V302I|PSRC1_uc001dxe.2_Missense_Mutation_p.V302I|PSRC1_uc001dxf.2_Missense_Mutation_p.G268D|PSRC1_uc001dxh.2_Missense_Mutation_p.V302I|PSRC1_uc001dxi.2_Missense_Mutation_p.V302I|PSRC1_uc001dxj.2_Missense_Mutation_p.V332I	1,1			benign(0.435)	p.V332I	NM_001032290	NP_001027461		deleterious_low_confidence(0.02)	1,1	PSRC1_HUMAN	PSRC1	HGNC	Q6PGN9	PSRC1_HUMAN		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)	Q5T2Z0_HUMAN		5	1116	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	UPI00001CE021	332			Pro/Ser-rich.		SNV	PSRC1,missense_variant,p.Val332Ile,ENST00000438534,NM_001005290.3;PSRC1,missense_variant,p.Val332Ile,ENST00000409138,;PSRC1,missense_variant,p.Val302Ile,ENST00000369909,NM_032636.7,NM_001032291.2;PSRC1,missense_variant,p.Val302Ile,ENST00000409267,;PSRC1,missense_variant,p.Val302Ile,ENST00000369907,;PSRC1,missense_variant,p.Val302Ile,ENST00000369903,;PSRC1,missense_variant,p.Gly268Asp,ENST00000369904,;PSRC1,downstream_gene_variant,,ENST00000418914,;PSRC1,downstream_gene_variant,,ENST00000429031,;PSRC1,downstream_gene_variant,,ENST00000474126,;PSRC1,splice_region_variant,,ENST00000492431,;PSRC1,downstream_gene_variant,,ENST00000459765,;PSRC1,downstream_gene_variant,,ENST00000471740,;	uc001dxg.2	c.994G>A	1140/1826	2	2			c.994G>A						1	SNP	c.(994-996)GTT>ATT	32	32				0	Broad	proline/serine-rich coiled-coil 1 isoform c			109823399		0.552	ENSG00000134222	12509	g.chr1:109823399C>T	cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding							98.330079	KEEP	18	14	-1	26	23	18	14	-1	99.123145	26	23	0.392405	1	0	0	0	0	1	0	0	0	--	--		0	T			PSRC1_uc001dxb.2_Missense_Mutation_p.V132I|PSRC1_uc001dxc.2_Missense_Mutation_p.V302I|PSRC1_uc001dxd.2_Missense_Mutation_p.V302I|PSRC1_uc001dxe.2_Missense_Mutation_p.V302I|PSRC1_uc001dxf.2_Missense_Mutation_p.G268D|PSRC1_uc001dxh.2_Missense_Mutation_p.V302I|PSRC1_uc001dxi.2_Missense_Mutation_p.V302I|PSRC1_uc001dxj.2_Missense_Mutation_p.V332I	139	GBM-14-0817-TP	p.V332I	C	GACCTCTTACCCTTGTGTCCA	NM_001032290	NP_001027461	109823399	Q6PGN9	PSRC1_HUMAN	0		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)	5	1116	-	T	T		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	Missense_Mutation	332			Pro/Ser-rich.			
PSRC1	84722		GRCh37	1	109823760	109823760	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000369909.2:c.633C>T		p.X211_splice	ENST00000369909	NM_032636.7	211	gcC/gcT	0																																																																																																																																																																																																																																												
PSTPIP2	0	broad.mit.edu	GRCh37	18	43572096	43572096	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01	TCGA-19-2631-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409746.5:c.814C>T	p.Arg272Cys	p.R272C	ENST00000409746	NM_024430.3	272	Cgc/Tgc	0	A:0.0003		1			A	R/C	uc002lbp.3	protein_coding	YES	CCDS32820.2			814/1005									ovary(1)	1	c.(814-816)CGC>TGC			hmmpanther:PTHR23065,hmmpanther:PTHR23065:SF9,Superfamily_domains:SSF103657	proline-serine-threonine phosphatase interacting			A:0.0001	ENSP00000387261		15-Nov	0.000132	0.000531				0.000199		0.000242	rs371604789,COSM2877658	15-Nov	common_variant		ENST00000409746	Transcript				membrane		ENSG00000152229	g.chr18:43572096G>A	9581			MODERATE		2.415	medium	getma.org/?cm=msa&ty=f&p=PPIP2_HUMAN&rb=99&re=298&var=R272C	NA	getma.org/?cm=var&var=hg19,18,43572096,G,A&fts=all	R272C	--	--	1																																		PSTPIP2_uc002lbq.3_Intron	0,1	1		possibly_damaging(0.901)	p.R272C	NM_024430	NP_077748		deleterious(0)	0,1	PPIP2_HUMAN	PSTPIP2	HGNC	Q9H939	PPIP2_HUMAN					11	910	-			UPI0000035DB3	272					SNV	PSTPIP2,missense_variant,p.Arg272Cys,ENST00000409746,NM_024430.3;PSTPIP2,intron_variant,,ENST00000589328,;RN7SKP26,upstream_gene_variant,,ENST00000410247,;PSTPIP2,intron_variant,,ENST00000588801,;PSTPIP2,non_coding_transcript_exon_variant,,ENST00000593086,;	uc002lbp.3	c.814C>T	886/3000	2	2			c.814C>T						18	SNP	c.(814-816)CGC>TGC	34	34			ovary(1)	1	Broad	proline-serine-threonine phosphatase interacting			43572096		0.388	ENSG00000152229	12512	g.chr18:43572096G>A		membrane								15.340551	KEEP	3	4	-1	9	7	3	4	-1	16.206383	9	7	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	A			PSTPIP2_uc002lbq.3_Intron	167	GBM-19-2631-TP	p.R272C	G	CCAGTTTTGCGTTGATTCACA	NM_024430	NP_077748	43572096	Q9H939	PPIP2_HUMAN	0			11	910	-	A	A			Missense_Mutation	272						
PTAFR	0	broad.mit.edu	GRCh37	1	28477001	28477001	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01	TCGA-32-2495-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305392.3:c.532G>A	p.Glu178Lys	p.E178K	ENST00000305392		178	Gag/Aag	0		T:0	1	T:0		T	E/K	uc001bpl.2	protein_coding		CCDS318.1			532/1029										0	c.(532-534)GAG>AAG			PROSITE_profiles:PS50262,hmmpanther:PTHR24233:SF6,hmmpanther:PTHR24233,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01153	platelet-activating factor receptor		T:0.001		ENSP00000301974	T:0	2-Feb	0.00014			0.000116		1.50E-05		0.000909	rs184182216,COSM680124	2-Feb	common_variant		ENST00000305392	Transcript		T:0.0002	chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity	ENSG00000169403	g.chr1:28477001C>T	9582			MODERATE		0.49	neutral	getma.org/?cm=msa&ty=f&p=PTAFR_HUMAN&rb=32&re=293&var=E178K	getma.org/pdb.php?prot=PTAFR_HUMAN&from=32&to=293&var=E178K	getma.org/?cm=var&var=hg19,1,28477001,C,T&fts=all	E178K	--	--	1																																		PTAFR_uc001bpm.3_Missense_Mutation_p.E178K|PTAFR_uc009vte.2_Missense_Mutation_p.E178K	0,1			benign(0.269)	p.E178K	NM_000952	NP_000943	T:0	tolerated(0.05)	0,1	PTAFR_HUMAN	PTAFR	HGNC	P25105	PTAFR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)			2	659	-		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	UPI0000000DD3	178			Extracellular (Potential).		SNV	PTAFR,missense_variant,p.Glu178Lys,ENST00000373857,NM_000952.4,NM_001164723.2,NM_001164722.2;PTAFR,missense_variant,p.Glu178Lys,ENST00000539896,NM_001164721.1,NM_001164723.2,NM_001164722.2;PTAFR,missense_variant,p.Glu178Lys,ENST00000305392,;	uc001bpl.2	c.532G>A	722/1539	2	2			c.532G>A						1	SNP	c.(532-534)GAG>AAG	26	26				0	Broad	platelet-activating factor receptor			28477001		0.542	ENSG00000169403	12513	g.chr1:28477001C>T	chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity							81.48101	KEEP	15	19	-1	28	21	15	19	-1	82.349383	28	21	0.383562	1	0	0	0	0	1	0	0	0	--	--		0	T			PTAFR_uc001bpm.3_Missense_Mutation_p.E178K|PTAFR_uc009vte.2_Missense_Mutation_p.E178K	237	GBM-32-2495-TP	p.E178K	C	CTGCCCTTCTCGTAATGCTCA	NM_000952	NP_000943	28477001	P25105	PTAFR_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)	2	659	-	T	T		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	Missense_Mutation	178			Extracellular (Potential).			
PTBP1	0	broad.mit.edu	GRCh37	19	804908	804908	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000349038.4:c.686C>T	p.Ala229Val	p.A229V	ENST00000349038	NM_031991.3	229	gCg/gTg	0	T:0.0002		1			T	A/V	uc002lpr.2	protein_coding		CCDS32859.1			686/1596									kidney(1)|skin(1)	2	c.(685-687)GCG>GTG			PROSITE_profiles:PS50102,hmmpanther:PTHR11546:SF17,hmmpanther:PTHR11546,TIGRFAM_domain:TIGR01649,Pfam_domain:PF13893,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928	polypyrimidine tract-binding protein 1 isoform			T:0	ENSP00000014112		14-Jul	1.65E-05					3.01E-05			rs201221864,COSM3404795	14-Jul	.		ENST00000349038	Transcript			negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding	ENSG00000011304	g.chr19:804908C>T	9583			MODERATE		2.15	medium	getma.org/?cm=msa&ty=f&p=PTBP1_HUMAN&rb=186&re=252&var=A229V	getma.org/pdb.php?prot=PTBP1_HUMAN&from=186&to=252&var=A229V	getma.org/?cm=var&var=hg19,19,804908,C,T&fts=all	A229V	--	--	1																																		PTBP1_uc002lpp.2_Missense_Mutation_p.A229V|PTBP1_uc002lpq.2_Missense_Mutation_p.A229V|PTBP1_uc002lps.2_Intron|PTBP1_uc002lpt.2_RNA|PTBP1_uc002lpu.1_Missense_Mutation_p.A199V	0,1			benign(0.035)	p.A229V	NM_031991	NP_114368		deleterious(0.01)	0,1	PTBP1_HUMAN	PTBP1	HGNC	P26599	PTBP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)			7	792	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	UPI0000000C5E	229			RRM 2.		SNV	PTBP1,missense_variant,p.Ala229Val,ENST00000356948,NM_002819.4;PTBP1,missense_variant,p.Ala229Val,ENST00000394601,NM_031990.3;PTBP1,missense_variant,p.Ala229Val,ENST00000349038,NM_031991.3;PTBP1,missense_variant,p.Ala54Val,ENST00000585956,;PTBP1,missense_variant,p.Ala243Val,ENST00000586481,;PTBP1,missense_variant,p.Ala226Val,ENST00000589575,;PTBP1,intron_variant,,ENST00000350092,;PTBP1,downstream_gene_variant,,ENST00000585535,;PTBP1,downstream_gene_variant,,ENST00000587094,;MIR4745,upstream_gene_variant,,ENST00000577608,;PTBP1,non_coding_transcript_exon_variant,,ENST00000586944,;PTBP1,non_coding_transcript_exon_variant,,ENST00000592113,;PTBP1,non_coding_transcript_exon_variant,,ENST00000587136,;PTBP1,intron_variant,,ENST00000587191,;PTBP1,upstream_gene_variant,,ENST00000585856,;PTBP1,upstream_gene_variant,,ENST00000592804,;PTBP1,upstream_gene_variant,,ENST00000585932,;PTBP1,upstream_gene_variant,,ENST00000589883,;PTBP1,downstream_gene_variant,,ENST00000590887,;PTBP1,upstream_gene_variant,,ENST00000589770,;PTBP1,upstream_gene_variant,,ENST00000589569,;	uc002lpr.2	c.686C>T	759/3163	2	2			c.686C>T						19	SNP	c.(685-687)GCG>GTG	35	35			kidney(1)|skin(1)	2	Broad	polypyrimidine tract-binding protein 1 isoform			804908		0.662	ENSG00000011304	12515	g.chr19:804908C>T	negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding							-26.189296	KEEP	1	2	-1	71	83	1	2	-1	6.448882	71	83	0.023256	1	0	0	0	0	1	0	0	0	--	--		0	T			PTBP1_uc002lpp.2_Missense_Mutation_p.A229V|PTBP1_uc002lpq.2_Missense_Mutation_p.A229V|PTBP1_uc002lps.2_Intron|PTBP1_uc002lpt.2_RNA|PTBP1_uc002lpu.1_Missense_Mutation_p.A199V	246	GBM-32-4211-TP	p.A229V	C	CTGCAGTATGCGGACCCCGTG	NM_031991	NP_114368	804908	P26599	PTBP1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	792	+	T	T		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	Missense_Mutation	229			RRM 2.			
PTCD2	79810	broad.mit.edu	GRCh37	5	71627105	71627105	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0238-01	TCGA-06-0238-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380639.5:c.371A>G	p.Asn124Ser	p.N124S	ENST00000380639	NM_024754.3	124	aAt/aGt	0			1			G	N/S	uc003kcb.2	nonsense_mediated_decay		CCDS4014.2			371/1167										0	c.(370-372)AAT>AGT			hmmpanther:PTHR14700,Pfam_domain:PF10037	pentatricopeptide repeat domain 2				ENSP00000308948		11-Apr									COSM3410395	11-Apr	.		ENST00000308077	Transcript						ENSG00000049883	g.chr5:71627105A>G	25734			MODERATE		2.19	medium	getma.org/?cm=msa&ty=f&p=PTCD2_HUMAN&rb=36&re=241&var=N124S	NA	getma.org/?cm=var&var=hg19,5,71627105,A,G&fts=all	N124S	--	--	1																																		PTCD2_uc011csf.1_5'UTR|PTCD2_uc003kcc.2_5'UTR|PTCD2_uc011csg.1_Intron|PTCD2_uc011csh.1_Intron|PTCD2_uc003kcd.2_RNA	1			benign(0.133)	p.N124S	NM_024754	NP_079030		tolerated(0.05)	1	PTCD2_HUMAN	PTCD2	HGNC	Q8WV60	PTCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)	D6RGK0_HUMAN,B3KPU6_HUMAN		4	381	+		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)	UPI000066D9F8	124					SNV	PTCD2,missense_variant,p.Asn124Ser,ENST00000380639,NM_024754.3;PTCD2,missense_variant,p.Asn124Ser,ENST00000543322,;PTCD2,intron_variant,,ENST00000503868,NM_001284403.1;PTCD2,intron_variant,,ENST00000536805,NM_001284404.1;PTCD2,intron_variant,,ENST00000510676,;PTCD2,non_coding_transcript_exon_variant,,ENST00000493283,;PTCD2,upstream_gene_variant,,ENST00000460837,;PTCD2,missense_variant,p.Asn124Ser,ENST00000308077,;PTCD2,missense_variant,p.Asn124Ser,ENST00000515198,;PTCD2,missense_variant,p.Ile81Val,ENST00000511752,;PTCD2,3_prime_UTR_variant,,ENST00000486995,;PTCD2,intron_variant,,ENST00000503315,;	uc003kcb.2	c.371A>G	381/2195	3	3			c.371A>G						5	SNP	c.(370-372)AAT>AGT	9	9				0	Broad	pentatricopeptide repeat domain 2			71627105		0.393	ENSG00000049883	12518	g.chr5:71627105A>G										-53.711907	KEEP	6	7	-1	206	182	6	7	-1	30.072811	206	182	0.033898	1	0	0	0	0	1	0	0	0	--	--		0	G			PTCD2_uc011csf.1_5'UTR|PTCD2_uc003kcc.2_5'UTR|PTCD2_uc011csg.1_Intron|PTCD2_uc011csh.1_Intron|PTCD2_uc003kcd.2_RNA	55	GBM-06-0238-TP	p.N124S	A	GAGAACAAAAATTTCACTTTG	NM_024754	NP_079030	71627105	Q8WV60	PTCD2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)	4	381	+	G	G		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)	Missense_Mutation	124						
PTCD2	0	broad.mit.edu	GRCh37	5	71634538	71634538	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	C	C	T			TCGA-26-5135-01	TCGA-26-5135-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308077.5:c.729C>T	p.Phe243=	p.F243=	ENST00000308077		243	ttC/ttT	0			1			T	F	uc003kcb.2	nonsense_mediated_decay		CCDS4014.2			729/1167										0	c.(727-729)TTC>TTT			hmmpanther:PTHR14700	pentatricopeptide repeat domain 2				ENSP00000308948		11-Jul	4.12E-05			0.000463		1.50E-05			rs777210186,COSM2157044	11-Jul	common_variant		ENST00000308077	Transcript						ENSG00000049883	g.chr5:71634538C>T	25734			LOW								--	--	1																																		PTCD2_uc011csf.1_Silent_p.F53F|PTCD2_uc003kcc.2_Silent_p.F91F|PTCD2_uc011csg.1_Silent_p.F71F|PTCD2_uc011csh.1_Silent_p.F134F|PTCD2_uc003kcd.2_RNA	0,1				p.F243F	NM_024754	NP_079030			0,1	PTCD2_HUMAN	PTCD2	HGNC	Q8WV60	PTCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)	D6RGK0_HUMAN,B3KPU6_HUMAN		7	739	+		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)	UPI000066D9F8	243					SNV	PTCD2,synonymous_variant,p.=,ENST00000380639,NM_024754.3;PTCD2,synonymous_variant,p.=,ENST00000503868,NM_001284403.1;PTCD2,synonymous_variant,p.=,ENST00000536805,NM_001284404.1;PTCD2,synonymous_variant,p.=,ENST00000510676,;PTCD2,3_prime_UTR_variant,,ENST00000543322,;PTCD2,non_coding_transcript_exon_variant,,ENST00000460837,;PTCD2,non_coding_transcript_exon_variant,,ENST00000493283,;PTCD2,synonymous_variant,p.=,ENST00000308077,;PTCD2,3_prime_UTR_variant,,ENST00000486995,;PTCD2,3_prime_UTR_variant,,ENST00000503315,;PTCD2,3_prime_UTR_variant,,ENST00000515198,;PTCD2,downstream_gene_variant,,ENST00000511752,;	uc003kcb.2	c.729C>T	739/2195	1	1			c.729C>T						5	SNP	c.(727-729)TTC>TTT	8	8				0	Broad	pentatricopeptide repeat domain 2			71634538		0.423	ENSG00000049883	12518	g.chr5:71634538C>T										122.792145	KEEP	22	28	-1	43	33	22	28	-1	124.598129	43	33	0.367521	1	0	0	0	0	0	0	1	0	--	--		0	T			PTCD2_uc011csf.1_Silent_p.F53F|PTCD2_uc003kcc.2_Silent_p.F91F|PTCD2_uc011csg.1_Silent_p.F71F|PTCD2_uc011csh.1_Silent_p.F134F|PTCD2_uc003kcd.2_RNA	184	GBM-26-5135-TP	p.F243F	C	CATCCTGTTTCGCTGTGGCAT	NM_024754	NP_079030	71634538	Q8WV60	PTCD2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)	7	739	+	T	T		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)	Silent	243						
PTCH1	5727	broad.mit.edu	GRCh37	9	98209358	98209358	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331920.6:c.4180C>T	p.Arg1394Ter	p.R1394*	ENST00000331920	NM_000264.3	1394	Cga/Tga	0			1			A	R/*	uc004avk.3	protein_coding	YES	CCDS6714.1			4180/4344								p.R1394*(1)	skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379	c.(4180-4182)CGA>TGA				patched isoform L				ENSP00000332353		23/24									COSM35810,COSM2149369,COSM2149371,COSM2149370	23/24	.	Basal_Cell_Nevus_syndrome	ENST00000331920	Transcript	1		embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	ENSG00000185920	g.chr9:98209358G>A	9585			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,9,98209358,G,A&fts=all	R1394*	--	--	1																																		PTCH1_uc010mrn.2_Nonsense_Mutation_p.R186*|PTCH1_uc010mro.2_Nonsense_Mutation_p.R1243*|PTCH1_uc010mrp.2_Nonsense_Mutation_p.R1243*|PTCH1_uc010mrq.2_Nonsense_Mutation_p.R1243*|PTCH1_uc004avl.3_Nonsense_Mutation_p.R1243*|PTCH1_uc010mrr.2_Nonsense_Mutation_p.R1328*|PTCH1_uc004avm.3_Nonsense_Mutation_p.R1393*	1,1,1,1	1			p.R1394*	NM_000264	NP_000255			1,1,1,1	PTC1_HUMAN	PTCH1	HGNC	Q13635	PTC1_HUMAN			Q6TKQ0_HUMAN,F8VXL8_HUMAN,F8VQS6_HUMAN		23	4368	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	UPI00001AFF9C	1394			Cytoplasmic (Potential).		SNV	PTCH1,stop_gained,p.Arg1328Ter,ENST00000430669,;PTCH1,stop_gained,p.Arg1394Ter,ENST00000331920,NM_000264.3;PTCH1,stop_gained,p.Arg1328Ter,ENST00000437951,NM_001083603.1,NM_001083602.1;PTCH1,stop_gained,p.Arg1243Ter,ENST00000418258,NM_001083607.1;PTCH1,stop_gained,p.Arg1243Ter,ENST00000421141,NM_001083604.1,NM_001083605.1;PTCH1,stop_gained,p.Arg1243Ter,ENST00000429896,NM_001083606.1;PTCH1,stop_gained,p.Arg1393Ter,ENST00000375274,;PTCH1,3_prime_UTR_variant,,ENST00000375290,;PTCH1,non_coding_transcript_exon_variant,,ENST00000546744,;	uc004avk.3	c.4180C>T	4480/8057	5	2			c.4180C>T						9	SNP	c.(4180-4182)CGA>TGA	28	28		p.R1394*(1)	skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379	Broad	patched isoform L			98209358	Basal_Cell_Nevus_syndrome	0.677	ENSG00000185920	12520	g.chr9:98209358G>A	embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			509			509	182.428764	KEEP	40	24	-1	28	33	40	24	-1	182.449383	28	33	0.513514	1	0	0	0	0	0	1	0	0	--	--		0	A			PTCH1_uc010mrn.2_Nonsense_Mutation_p.R186*|PTCH1_uc010mro.2_Nonsense_Mutation_p.R1243*|PTCH1_uc010mrp.2_Nonsense_Mutation_p.R1243*|PTCH1_uc010mrq.2_Nonsense_Mutation_p.R1243*|PTCH1_uc004avl.3_Nonsense_Mutation_p.R1243*|PTCH1_uc010mrr.2_Nonsense_Mutation_p.R1328*|PTCH1_uc004avm.3_Nonsense_Mutation_p.R1393*	12	GBM-06-0125-TP	p.R1394*	G	AGTCCCCCTCGGGGGTTCCGC	NM_000264	NP_000255	98209358	Q13635	PTC1_HUMAN	0			23	4368	-	A	A		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	Nonsense_Mutation	1394			Cytoplasmic (Potential).			
PTCH2	8643	broad.mit.edu	GRCh37	1	45307671	45307671	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0649-01	TCGA-06-0649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372192.3:c.113C>G	p.Ala38Gly	p.A38G	ENST00000372192	NM_003738.4	38	gCt/gGt	0			1			C	A/G	uc010olf.1	protein_coding	YES	CCDS516.1			113/3612									lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18	c.(112-114)GCT>GGT			hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF62,TIGRFAM_domain:TIGR00918	patched 2				ENSP00000361266		22-Feb									COSM2151418	22-Feb	.	Basal_Cell_Nevus_syndrome	ENST00000372192	Transcript	1		protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	ENSG00000117425	g.chr1:45307671G>C	9586			MODERATE		2.1	medium	getma.org/?cm=msa&ty=f&p=PTC2_HUMAN&rb=1&re=200&var=A38G	NA	getma.org/?cm=var&var=hg19,1,45307671,G,C&fts=all	A38G	--	--	1																																		PTCH2_uc010olg.1_5'UTR	1	1		benign(0.081)	p.A38G	NM_003738	NP_003729		deleterious(0.01)	1	PTC2_HUMAN	PTCH2	HGNC	Q9Y6C5	PTC2_HUMAN					2	125	-	Acute lymphoblastic leukemia(166;0.155)		UPI00001328B8	38			Cytoplasmic (Potential).		SNV	PTCH2,missense_variant,p.Ala38Gly,ENST00000447098,NM_001166292.1;PTCH2,missense_variant,p.Ala38Gly,ENST00000372192,NM_003738.4;RP5-882O7.1,downstream_gene_variant,,ENST00000447970,;	uc010olf.1	c.113C>G	244/4225	3	3			c.113C>G						1	SNP	c.(112-114)GCT>GGT	59	59			lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18	Broad	patched 2			45307671	Basal_Cell_Nevus_syndrome	0.552	ENSG00000117425	12521	g.chr1:45307671G>C	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			193			193	92.570339	KEEP	16	22	-1	77	52	16	22	-1	103.237907	77	52	0.223684	1	0	0	0	0	1	0	0	0	--	--		0	C			PTCH2_uc010olg.1_5'UTR	62	GBM-06-0649-TP	p.A38G	G	CTGGAAGTAAGCACGAAGCCA	NM_003738	NP_003729	45307671	Q9Y6C5	PTC2_HUMAN	0			2	125	-	C	C	Acute lymphoblastic leukemia(166;0.155)		Missense_Mutation	38			Cytoplasmic (Potential).			
PTCHD1	139411	broad.mit.edu	GRCh37	X	23397772	23397772	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0939-01	TCGA-06-0939-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379361.4:c.416T>C	p.Ile139Thr	p.I139T	ENST00000379361	NM_173495.2	139	aTa/aCa	0			1			C	I/T	uc004dal.3	protein_coding	YES	CCDS35215.2			416/2667									ovary(4)|kidney(1)|skin(1)	6	c.(415-417)ATA>ACA			Pfam_domain:PF02460,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF36	patched domain containing 1				ENSP00000368666		3-Feb									COSM2152390,COSM2152389	3-Feb	.		ENST00000379361	Transcript	1		cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	ENSG00000165186	g.chrX:23397772T>C	26392			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=PTHD1_HUMAN&rb=52&re=851&var=I139T	NA	getma.org/?cm=var&var=hg19,X,23397772,T,C&fts=all	I139T	--	--	1																																		PTCHD1_uc010nfu.1_Missense_Mutation_p.I139T	1,1	1		benign(0.122)	p.I139T	NM_173495	NP_775766		deleterious(0.01)	1,1	PTHD1_HUMAN	PTCHD1	HGNC	Q96NR3	PTHD1_HUMAN					2	424	+			UPI000059DAD8	139					SNV	PTCHD1,missense_variant,p.Ile139Thr,ENST00000379361,NM_173495.2;PTCHD1,intron_variant,,ENST00000456522,;	uc004dal.3	c.416T>C	1276/13714	3	3			c.416T>C						23	SNP	c.(415-417)ATA>ACA	9	9			ovary(4)|kidney(1)|skin(1)	6	Broad	patched domain containing 1			23397772		0.433	ENSG00000165186	12522	g.chrX:23397772T>C	cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity							240.77845	KEEP	36	36	-1	66	69	36	36	-1	243.620026	66	69	0.367568	1	0	0	0	0	1	0	0	0	--	--		0	C			PTCHD1_uc010nfu.1_Missense_Mutation_p.I139T	78	GBM-06-0939-TP	p.I139T	T	TTTGCCCATATATGTATCCTG	NM_173495	NP_775766	23397772	Q96NR3	PTHD1_HUMAN	0			2	424	+	C	C			Missense_Mutation	139						
PTCHD2	0	broad.mit.edu	GRCh37	1	11596726	11596726	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0745-01	TCGA-06-0745-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294484.6:c.4162G>T	p.Ala1388Ser	p.A1388S	ENST00000294484	NM_020780.1	1388	Gca/Tca	0			1			T	A/S	uc001ash.3	protein_coding	YES	CCDS41247.1			4162/4179									skin(3)|ovary(2)|pancreas(1)|breast(1)	7	c.(4162-4164)GCA>TCA				patched domain containing 2				ENSP00000294484		21/21									COSM1332954,COSM3399571	21/21	.		ENST00000294484	Transcript			cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	ENSG00000204624	g.chr1:11596726G>T	29251			MODERATE		-0.55	neutral	getma.org/?cm=msa&ty=f&p=PTHD2_HUMAN&rb=1360&re=1392&var=A1388S	NA	getma.org/?cm=var&var=hg19,1,11596726,G,T&fts=all	A1388S	--	--	1																																			1,1	1		benign(0)	p.A1388S	NM_020780	NP_065831		tolerated(1)	1,1	PTHD2_HUMAN	PTCHD2	HGNC	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)			21	4300	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	UPI00001C1D7A	1388			Cytoplasmic (Potential).		SNV	PTCHD2,missense_variant,p.Ala1388Ser,ENST00000294484,NM_020780.1;PTCHD2,missense_variant,p.Ala1388Ser,ENST00000389575,;PTCHD2,3_prime_UTR_variant,,ENST00000304391,;	uc001ash.3	c.4162G>T	4300/5215	2	2			c.4162G>T						1	SNP	c.(4162-4164)GCA>TCA	41	41			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Broad	patched domain containing 2			11596726		0.662	ENSG00000204624	12523	g.chr1:11596726G>T	cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity							42.784998	KEEP	7	6	0.538461538	2	1	7	6	0.538461538	44.253005	2	1	0.8125	1	0	0	0	0	1	0	0	0	--	--		0	T				67	GBM-06-0745-TP	p.A1388S	G	TCCCCTGCCCGCAGGGGCCTC	NM_020780	NP_065831	11596726	Q9P2K9	PTHD2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	21	4300	+	T	T	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	1388			Cytoplasmic (Potential).			
PTCHD3	374308	broad.mit.edu	GRCh37	10	27702648	27702648	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01	TCGA-06-2565-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000438700.3:c.532G>A	p.Ala178Thr	p.A178T	ENST00000438700	NM_001034842.3	178	Gcc/Acc	0			1			T	A/T	uc001itu.2	protein_coding	YES	CCDS31173.1			532/2304									ovary(2)|pancreas(1)|skin(1)	4	c.(532-534)GCC>ACC			hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF60,Pfam_domain:PF02460	patched domain containing 3				ENSP00000417658		4-Jan	1.65E-05			0.000116		1.50E-05			rs769285487,COSM3397077	4-Jan	.		ENST00000438700	Transcript			spermatid development	integral to membrane	hedgehog receptor activity	ENSG00000182077	g.chr10:27702648C>T	24776			MODERATE		2.42	medium	getma.org/?cm=msa&ty=f&p=PTHD3_HUMAN&rb=164&re=761&var=A178T	NA	getma.org/?cm=var&var=hg19,10,27702648,C,T&fts=all	A178T	--	--	1																																			0,1	1		probably_damaging(0.966)	p.A178T	NM_001034842	NP_001030014		deleterious(0)	0,1	PTHD3_HUMAN	PTCHD3	HGNC	Q3KNS1	PTHD3_HUMAN			I0CMK0_HUMAN		1	650	-			UPI000004E892	178					SNV	PTCHD3,missense_variant,p.Ala178Thr,ENST00000438700,NM_001034842.3;	uc001itu.2	c.532G>A	650/2529	2	2			c.532G>A						10	SNP	c.(532-534)GCC>ACC	36	36			ovary(2)|pancreas(1)|skin(1)	4	Broad	patched domain containing 3			27702648		0.632	ENSG00000182077	12524	g.chr10:27702648C>T	spermatid development	integral to membrane	hedgehog receptor activity							-34.685878	KEEP	4	1	-1	94	98	4	1	-1	6.725212	94	98	0.029412	1	0	0	0	0	1	0	0	0	--	--		0	T				88	GBM-06-2565-TP	p.A178T	C	TCCGCCTTGGCCGGGCTCCCC	NM_001034842	NP_001030014	27702648	Q3KNS1	PTHD3_HUMAN	0			1	650	-	T	T			Missense_Mutation	178						
PTCHD3	0	broad.mit.edu	GRCh37	10	27688091	27688091	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-15-0742-01	TCGA-15-0742-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000438700.3:c.1436T>A	p.Met479Lys	p.M479K	ENST00000438700	NM_001034842.3	479	aTg/aAg	0			1			T	M/K	uc001itu.2	protein_coding	YES	CCDS31173.1			1436/2304									ovary(2)|pancreas(1)|skin(1)	4	c.(1435-1437)ATG>AAG			PROSITE_profiles:PS50156,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF60,Pfam_domain:PF02460,Gene3D:2j8sB01,Superfamily_domains:SSF82866	patched domain containing 3				ENSP00000417658		4-Apr									COSM3397076	4-Apr	.		ENST00000438700	Transcript			spermatid development	integral to membrane	hedgehog receptor activity	ENSG00000182077	g.chr10:27688091A>T	24776			MODERATE		2.02	medium	getma.org/?cm=msa&ty=f&p=PTHD3_HUMAN&rb=164&re=761&var=M479K	NA	getma.org/?cm=var&var=hg19,10,27688091,A,T&fts=all	M479K	--	--	1																																			1	1		possibly_damaging(0.905)	p.M479K	NM_001034842	NP_001030014		deleterious(0)	1	PTHD3_HUMAN	PTCHD3	HGNC	Q3KNS1	PTHD3_HUMAN			I0CMK0_HUMAN		4	1554	-			UPI000004E892	479			SSD.		SNV	PTCHD3,missense_variant,p.Met479Lys,ENST00000438700,NM_001034842.3;	uc001itu.2	c.1436T>A	1554/2529	2	2			c.1436T>A						10	SNP	c.(1435-1437)ATG>AAG	35	35			ovary(2)|pancreas(1)|skin(1)	4	Broad	patched domain containing 3			27688091		0.403	ENSG00000182077	12524	g.chr10:27688091A>T	spermatid development	integral to membrane	hedgehog receptor activity							233.548678	KEEP	35	37	-1	13	6	35	37	-1	240.24787	13	6	0.8	1	0	0	0	0	1	0	0	0	--	--		0	T				153	GBM-15-0742-TP	p.M479K	A	GACATTGGACATCCGCTCTCG	NM_001034842	NP_001030014	27688091	Q3KNS1	PTHD3_HUMAN	0			4	1554	-	T	T			Missense_Mutation	479			SSD.			
PTCHD4	442213	broad.mit.edu	GRCh37	6	47976593	47976593	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0877-01	TCGA-06-0877-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339488.4:c.684G>T	p.Lys228Asn	p.K228N	ENST00000339488	NM_001013732.3	228	aaG/aaT	0			1			A	K/N	uc011dwm.1	protein_coding	YES	CCDS34473.2			684/2541									central_nervous_system(1)	1	c.(631-633)AAG>AAT			hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF15,Pfam_domain:PF02460	hypothetical protein LOC442213				ENSP00000341914		3-Feb									COSM3411160,COSM3411161	3-Feb	.		ENST00000339488	Transcript				integral to membrane	hedgehog receptor activity	ENSG00000244694	g.chr6:47976593C>A	21345			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=PTHD4_HUMAN&rb=201&re=400&var=K228N	NA	getma.org/?cm=var&var=hg19,6,47976593,C,A&fts=all	K228N	--	--	1																																		C6orf138_uc011dwn.1_5'UTR|C6orf138_uc003ozf.2_Missense_Mutation_p.K228N	1,1	1		benign(0.239)	p.K211N	NM_001013732	NP_001013754		tolerated(0.43)	1,1	PTHD4_HUMAN	PTCHD4	HGNC	Q6ZW05	CF138_HUMAN			B2RPC0_HUMAN		2	718	-			UPI000179A8D3	228					SNV	PTCHD4,missense_variant,p.Lys228Asn,ENST00000398738,NM_207499.2;PTCHD4,missense_variant,p.Lys211Asn,ENST00000543600,;PTCHD4,missense_variant,p.Lys228Asn,ENST00000339488,NM_001013732.3;	uc011dwm.1	c.633G>T	718/2850	1	1			c.633G>T						6	SNP	c.(631-633)AAG>AAT	57	57			central_nervous_system(1)	1	Broad	hypothetical protein LOC442213			47976593		0.522	ENSG00000244694	2284	g.chr6:47976593C>A		integral to membrane	hedgehog receptor activity							68.244003	KEEP	13	17	0.566666667	29	32	13	17	0.566666667	70.612233	29	32	0.316456	1	0	0	0	0	1	0	0	0	--	--		0	A			C6orf138_uc011dwn.1_5'UTR|C6orf138_uc003ozf.2_Missense_Mutation_p.K228N	73	GBM-06-0877-TP	p.K211N	C	GGATGCTGGTCTTATGAAAGT	NM_001013732	NP_001013754	47976593	Q6ZW05	CF138_HUMAN	0			2	718	-	A	A			Missense_Mutation	228						
PTCHD4	442213	broad.mit.edu	GRCh37	6	47846894	47846894	+	synonymous_variant	Silent	SNP	G	G	A	rs147985171	byFrequency	TCGA-06-2557-01	TCGA-06-2557-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339488.4:c.1686C>T	p.Asn562=	p.N562=	ENST00000339488	NM_001013732.3	562	aaC/aaT	0	A:0.0025	A:0.0023	1	A:0		A	N	uc011dwm.1	protein_coding	YES	CCDS34473.2			1686/2541									central_nervous_system(1)	1	c.(1633-1635)AAC>AAT			hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF15,Pfam_domain:PF02460	hypothetical protein LOC442213		A:0	A:0.0001	ENSP00000341914	A:0	3-Mar	0.000313	0.00214	8.85E-05			4.55E-05		0.000732	rs147985171,COSM3411158	3-Mar	common_variant		ENST00000339488	Transcript		A:0.0016		integral to membrane	hedgehog receptor activity	ENSG00000244694	g.chr6:47846894G>A	21345			LOW								--	--	1																																		C6orf138_uc011dwn.1_Silent_p.N309N	0,1	1			p.N545N	NM_001013732	NP_001013754	A:0.0051		0,1	PTHD4_HUMAN	PTCHD4	HGNC	Q6ZW05	CF138_HUMAN			B2RPC0_HUMAN		3	1720	-			UPI000179A8D3	562					SNV	PTCHD4,synonymous_variant,p.=,ENST00000339488,NM_001013732.3;	uc011dwm.1	c.1635C>T	1720/2850	2	2			c.1635C>T						6	SNP	c.(1633-1635)AAC>AAT	30	30			central_nervous_system(1)	1	Broad	hypothetical protein LOC442213			47846894		0.443	ENSG00000244694	2284	g.chr6:47846894G>A		integral to membrane	hedgehog receptor activity							68.913593	KEEP	16	8	-1	18	18	16	8	-1	69.377608	18	18	0.403509	1	0	0	0	0	0	0	1	0	--	--		0	A			C6orf138_uc011dwn.1_Silent_p.N309N	81	GBM-06-2557-TP	p.N545N	G	TGGCACTGACGTTGCTGACTT	NM_001013732	NP_001013754	47846894	Q6ZW05	CF138_HUMAN	0			3	1720	-	A	A			Silent	562						
PTCHD4	0	broad.mit.edu	GRCh37	6	47846160	47846160	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-0813-01	TCGA-14-0813-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339488.4:c.2420T>C	p.Leu807Pro	p.L807P	ENST00000339488	NM_001013732.3	807	cTa/cCa	0			1			G	L/P	uc011dwm.1	protein_coding	YES	CCDS34473.2			2420/2541									central_nervous_system(1)	1	c.(2368-2370)CTA>CCA			Transmembrane_helices:TMhelix,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF15,Gene3D:2j8sB01,Pfam_domain:PF02460,Superfamily_domains:SSF82866	hypothetical protein LOC442213				ENSP00000341914		3-Mar									COSM3411157	3-Mar	.		ENST00000339488	Transcript				integral to membrane	hedgehog receptor activity	ENSG00000244694	g.chr6:47846160A>G	21345			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=PTHD4_HUMAN&rb=801&re=846&var=L807P	NA	getma.org/?cm=var&var=hg19,6,47846160,A,G&fts=all	L807P	--	--	1																																		C6orf138_uc011dwn.1_Missense_Mutation_p.L554P	1	1		probably_damaging(0.996)	p.L790P	NM_001013732	NP_001013754		deleterious(0)	1	PTHD4_HUMAN	PTCHD4	HGNC	Q6ZW05	CF138_HUMAN			B2RPC0_HUMAN		3	2454	-			UPI000179A8D3	807			Helical; (Potential).		SNV	PTCHD4,missense_variant,p.Leu807Pro,ENST00000339488,NM_001013732.3;	uc011dwm.1	c.2369T>C	2454/2850	4	4			c.2369T>C						6	SNP	c.(2368-2370)CTA>CCA	30	30			central_nervous_system(1)	1	Broad	hypothetical protein LOC442213			47846160		0.443	ENSG00000244694	2284	g.chr6:47846160A>G		integral to membrane	hedgehog receptor activity							205.99145	KEEP	32	30	-1	78	51	32	30	-1	210.690452	78	51	0.331551	1	0	0	0	0	1	0	0	0	--	--		0	G			C6orf138_uc011dwn.1_Missense_Mutation_p.L554P	138	GBM-14-0813-TP	p.L790P	A	GAAAAACGTTAGGAACACAGG	NM_001013732	NP_001013754	47846160	Q6ZW05	CF138_HUMAN	0			3	2454	-	G	G			Missense_Mutation	807			Helical; (Potential).			
PTDSS1	9791	broad.mit.edu	GRCh37	8	97345772	97345772	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-5418-01	TCGA-06-5418-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000517309.1:c.1400C>G	p.Thr467Ser	p.T467S	ENST00000517309	NM_014754.1	467	aCc/aGc	0			1			G	T/S	uc003yht.1	protein_coding	YES	CCDS6271.1			1400/1422									ovary(1)	1	c.(1399-1401)ACC>AGC			hmmpanther:PTHR12615,hmmpanther:PTHR12615:SF1	phosphatidylserine synthase 1	Phosphatidylserine(DB00144)			ENSP00000430548		13/13									COSM3413184	13/13	.		ENST00000517309	Transcript	1		phosphatidylserine biosynthetic process	integral to membrane	transferase activity	ENSG00000156471	g.chr8:97345772C>G	9587			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=PTSS1_HUMAN&rb=375&re=473&var=T467S	NA	getma.org/?cm=var&var=hg19,8,97345772,C,G&fts=all	T467S	--	--	1																																OREG0018880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	PTDSS1_uc003yhu.1_Missense_Mutation_p.T321S	1	1		benign(0.001)	p.T467S	NM_014754	NP_055569		tolerated(0.41)	1	PTSS1_HUMAN	PTDSS1	HGNC	P48651	PTSS1_HUMAN			Q9BUQ5_HUMAN		13	1502	+	Breast(36;6.18e-05)		UPI0000132810	467					SNV	PTDSS1,missense_variant,p.Thr467Ser,ENST00000517309,NM_014754.1;PTDSS1,missense_variant,p.Thr321Ser,ENST00000455950,;PTDSS1,intron_variant,,ENST00000522072,;PTDSS1,3_prime_UTR_variant,,ENST00000337004,;PTDSS1,non_coding_transcript_exon_variant,,ENST00000517982,;	uc003yht.1	c.1400C>G	1726/5177	3	3			c.1400C>G						8	SNP	c.(1399-1401)ACC>AGC	61	61			ovary(1)	1	Broad	phosphatidylserine synthase 1		Phosphatidylserine(DB00144)	97345772		0.473	ENSG00000156471	12526	g.chr8:97345772C>G	phosphatidylserine biosynthetic process	integral to membrane	transferase activity							-56.44855	KEEP	2	1	-1	114	132	2	1	-1	6.376103	114	132	0.012931	1	0	0	0	0	1	0	0	0	--	--		0	G	OREG0018880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	PTDSS1_uc003yhu.1_Missense_Mutation_p.T321S	100	GBM-06-5418-TP	p.T467S	C	TCAAAAGTCACCAATGGCGTT	NM_014754	NP_055569	97345772	P48651	PTSS1_HUMAN	0			13	1502	+	G	G	Breast(36;6.18e-05)		Missense_Mutation	467						
PTDSS1	0	broad.mit.edu	GRCh37	8	97285591	97285591	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-12-0692-01	TCGA-12-0692-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000517309.1:c.244A>G	p.Ile82Val	p.I82V	ENST00000517309	NM_014754.1	82	Atc/Gtc	0			1			G	I/V	uc003yht.1	protein_coding	YES	CCDS6271.1			244/1422									ovary(1)	1	c.(244-246)ATC>GTC			hmmpanther:PTHR12615,hmmpanther:PTHR12615:SF1,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	phosphatidylserine synthase 1	Phosphatidylserine(DB00144)			ENSP00000430548		13-Feb									COSM3413182	13-Feb	.		ENST00000517309	Transcript	1		phosphatidylserine biosynthetic process	integral to membrane	transferase activity	ENSG00000156471	g.chr8:97285591A>G	9587			MODERATE		-0.205	neutral	getma.org/?cm=msa&ty=f&p=PTSS1_HUMAN&rb=1&re=95&var=I82V	NA	getma.org/?cm=var&var=hg19,8,97285591,A,G&fts=all	I82V	--	--	1																																		PTDSS1_uc003yhu.1_5'UTR	1	1		benign(0.003)	p.I82V	NM_014754	NP_055569		tolerated(0.61)	1	PTSS1_HUMAN	PTDSS1	HGNC	P48651	PTSS1_HUMAN			Q9BUQ5_HUMAN		2	346	+	Breast(36;6.18e-05)		UPI0000132810	82			Helical; (Potential).		SNV	PTDSS1,missense_variant,p.Ile82Val,ENST00000517309,NM_014754.1;PTDSS1,5_prime_UTR_variant,,ENST00000455950,;PTDSS1,missense_variant,p.Ile82Val,ENST00000337004,;PTDSS1,non_coding_transcript_exon_variant,,ENST00000517557,;	uc003yht.1	c.244A>G	570/5177	3	3			c.244A>G						8	SNP	c.(244-246)ATC>GTC	52	52			ovary(1)	1	Broad	phosphatidylserine synthase 1		Phosphatidylserine(DB00144)	97285591		0.373	ENSG00000156471	12526	g.chr8:97285591A>G	phosphatidylserine biosynthetic process	integral to membrane	transferase activity							-9.537135	KEEP	2	1	-1	51	37	2	1	-1	7.562949	51	37	0.04	1	0	0	0	0	1	0	0	0	--	--		0	G			PTDSS1_uc003yhu.1_5'UTR	122	GBM-12-0692-TP	p.I82V	A	CTTCTTTCTTATCATCAGTGT	NM_014754	NP_055569	97285591	P48651	PTSS1_HUMAN	0			2	346	+	G	G	Breast(36;6.18e-05)		Missense_Mutation	82			Helical; (Potential).			
PTDSS1	0	broad.mit.edu	GRCh37	8	97296348	97296348	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-14-3476-01	TCGA-14-3476-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000517309.1:c.283C>G	p.Arg95Gly	p.R95G	ENST00000517309	NM_014754.1	95	Cga/Gga	0			1			G	R/G	uc003yht.1	protein_coding	YES	CCDS6271.1			283/1422									ovary(1)	1	c.(283-285)CGA>GGA			hmmpanther:PTHR12615,hmmpanther:PTHR12615:SF1	phosphatidylserine synthase 1	Phosphatidylserine(DB00144)			ENSP00000430548		13-Mar									COSM3413183	13-Mar	.		ENST00000517309	Transcript	1		phosphatidylserine biosynthetic process	integral to membrane	transferase activity	ENSG00000156471	g.chr8:97296348C>G	9587			MODERATE		2.695	medium	getma.org/?cm=msa&ty=f&p=PTSS1_HUMAN&rb=1&re=95&var=R95G	NA	getma.org/?cm=var&var=hg19,8,97296348,C,G&fts=all	R95G	--	--	1																																		PTDSS1_uc003yhu.1_Intron	1	1		probably_damaging(0.999)	p.R95G	NM_014754	NP_055569		deleterious(0)	1	PTSS1_HUMAN	PTDSS1	HGNC	P48651	PTSS1_HUMAN			Q9BUQ5_HUMAN		3	385	+	Breast(36;6.18e-05)		UPI0000132810	95					SNV	PTDSS1,missense_variant,p.Arg95Gly,ENST00000517309,NM_014754.1;PTDSS1,intron_variant,,ENST00000455950,;PTDSS1,non_coding_transcript_exon_variant,,ENST00000518776,;PTDSS1,non_coding_transcript_exon_variant,,ENST00000517557,;PTDSS1,intron_variant,,ENST00000337004,;	uc003yht.1	c.283C>G	609/5177	3	3			c.283C>G						8	SNP	c.(283-285)CGA>GGA	1	1			ovary(1)	1	Broad	phosphatidylserine synthase 1		Phosphatidylserine(DB00144)	97296348		0.353	ENSG00000156471	12526	g.chr8:97296348C>G	phosphatidylserine biosynthetic process	integral to membrane	transferase activity							262.468754	KEEP	43	38	-1	85	87	43	38	-1	266.574202	85	87	0.352113	1	0	0	0	0	1	0	0	0	--	--		0	G			PTDSS1_uc003yhu.1_Intron	151	GBM-14-3476-TP	p.R95G	C	TCCGTTCACTCGACCTCATCC	NM_014754	NP_055569	97296348	P48651	PTSS1_HUMAN	0			3	385	+	G	G	Breast(36;6.18e-05)		Missense_Mutation	95						
PTEN	5728	broad.mit.edu	GRCh37	10	89692907	89692907	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-02-0055-01	TCGA-02-0055-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.391A>G	p.Thr131Ala	p.T131A	ENST00000371953	NM_000314.4	131	Act/Gct	0			1			G	T/A	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	391/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.R55fs*1(4)|p.T131fs*3(3)|p.?(2)|p.Y27fs*1(2)|p.K128_R130del(2)|p.Y27_N212>Y(2)|p.T131A(1)|p.K128fs*47(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131N(1)|p.T131fs*50(1)|p.T131P(1)|p.T131fs*42(1)|p.T131I(1)|p.F56fs*2(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(391-393)ACT>GCT			PROSITE_profiles:PS51181,hmmpanther:PTHR12305,PROSITE_patterns:PS00383,Gene3D:3.90.190.10,Pfam_domain:PF00782,PIRSF_domain:PIRSF038025,SMART_domains:SM00404,Superfamily_domains:SSF52799	phosphatase and tensin homolog				ENSP00000361021		9-May									COSM35342	9-May	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89692907A>G	9588			MODERATE		2.54	medium	getma.org/?cm=msa&ty=f&p=PTEN_HUMAN&rb=47&re=175&var=T131A	getma.org/pdb.php?prot=PTEN_HUMAN&from=47&to=175&var=T131A	getma.org/?cm=var&var=hg19,10,89692907,A,G&fts=all	T131A	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1	1		probably_damaging(0.977)	p.T131A	NM_000314	NP_000305		deleterious(0)	1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		6	1422	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	131			Phosphatase tensin-type.		SNV	PTEN,missense_variant,p.Thr131Ala,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000498703,;	uc001kfb.2	c.391A>G	1748/9027	4	4		31	c.391A>G	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(391-393)ACT>GCT	30	30		p.R55fs*1(4)|p.T131fs*3(3)|p.?(2)|p.Y27fs*1(2)|p.K128_R130del(2)|p.Y27_N212>Y(2)|p.T131A(1)|p.K128fs*47(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131N(1)|p.T131fs*50(1)|p.T131P(1)|p.T131fs*42(1)|p.T131I(1)|p.F56fs*2(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89692907	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.398	ENSG00000171862	12528	g.chr10:89692907A>G	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264	325.760728	KEEP	54	45	-1	48	48	54	45	-1	325.780696	48	48	0.511364	1	0	0	0	0	1	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	G				4	GBM-02-0055-TP	p.T131A	A	AAAGGGACGAACTGGTGTAAT	NM_000314	NP_000305	89692907	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1422	+	G	G		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Missense_Mutation	131			Phosphatase tensin-type.			
PTEN	5728	broad.mit.edu	GRCh37	10	89717672	89717672	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs121909219		TCGA-02-2470-01	TCGA-02-2470-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.697C>T	p.Arg233Ter	p.R233*	ENST00000371953	NM_000314.4	233	Cga/Tga	0			1			T	R/*	uc001kfb.2	protein_coding	YES	CCDS31238.1	R233*(JHUEM1_ENDOMETRIUM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(HEC59_ENDOMETRIUM)	31	697/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	pathogenic		p.R233*(61)|p.R233fs*10(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)|p.G165_K342del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(697-699)CGA>TGA			PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Gene3D:1d5rA02,Pfam_domain:PF10409,PIRSF_domain:PIRSF038025,Superfamily_domains:SSF49562	phosphatase and tensin homolog				ENSP00000361021		9-Jul									rs121909219,COSM5154	9-Jul	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89717672C>T	9588			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,10,89717672,C,T&fts=all	R233*	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1,1	1			p.R233*	NM_000314	NP_000305			0,1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		8	1728	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	233			C2 tensin-type.		SNV	PTEN,stop_gained,p.Arg233Ter,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000472832,;	uc001kfb.2	c.697C>T	2054/9027	5	1	R233*(JHUEM1_ENDOMETRIUM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(HEC59_ENDOMETRIUM)	31	c.697C>T	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(697-699)CGA>TGA	3	3		p.R233*(61)|p.R233fs*10(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)|p.G165_K342del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89717672	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.423	ENSG00000171862	12528	g.chr10:89717672C>T	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		p.R233*(JHUEM1-Tumor)|p.R233*(SW1783-Tumor)|p.R233*(SF295-Tumor)|p.T232fs(P31FUJ-Tumor)	264		p.R233*(JHUEM1-Tumor)|p.R233*(SW1783-Tumor)|p.R233*(SF295-Tumor)|p.T232fs(P31FUJ-Tumor)	264	307.547409	KEEP	49	61	-1	54	50	49	61	-1	307.548522	54	50	0.502564	1	0	0	0	0	0	1	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	T				5	GBM-02-2470-TP	p.R233*	C	AGGACCCACACGACGGGAAGA	NM_000314	NP_000305	89717672	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	1728	+	T	T		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Nonsense_Mutation	233			C2 tensin-type.			
PTEN	5728	broad.mit.edu	GRCh37	10	89720679	89720679	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01	TCGA-06-0124-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.830C>T	p.Thr277Ile	p.T277I	ENST00000371953	NM_000314.4	277	aCa/aTa	0			1			T	T/I	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	830/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	uncertain_significance		p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.T277I(1)|p.W274_F341del(1)|p.T277fs*13(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(829-831)ACA>ATA			PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Gene3D:1d5rA02,Pfam_domain:PF10409,PIRSF_domain:PIRSF038025,Superfamily_domains:SSF49562	phosphatase and tensin homolog				ENSP00000361021		9-Aug									rs398123329,COSM35645	9-Aug	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89720679C>T	9588			MODERATE		2.85	medium	getma.org/?cm=msa&ty=f&p=PTEN_HUMAN&rb=188&re=349&var=T277I	getma.org/pdb.php?prot=PTEN_HUMAN&from=188&to=349&var=T277I	getma.org/?cm=var&var=hg19,10,89720679,C,T&fts=all	T277I	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1,1	1		probably_damaging(0.929)	p.T277I	NM_000314	NP_000305		deleterious(0)	0,1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		9	1861	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	277			C2 tensin-type.		SNV	PTEN,missense_variant,p.Thr277Ile,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000472832,;	uc001kfb.2	c.830C>T	2187/9027	1	1		31	c.830C>T	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(829-831)ACA>ATA	16	16		p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.T277I(1)|p.W274_F341del(1)|p.T277fs*13(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89720679	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.259	ENSG00000171862	12528	g.chr10:89720679C>T	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264	63.215665	KEEP	14	12	-1	19	11	14	12	-1	63.235053	19	11	0.522727	1	0	0	0	0	1	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	T				11	GBM-06-0124-TP	p.T277I	C	TGGGTAAATACATTCTTCATA	NM_000314	NP_000305	89720679	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	9	1861	+	T	T		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Missense_Mutation	277			C2 tensin-type.			
PTEN	5728	broad.mit.edu	GRCh37	10	89720799	89720802	+	frameshift_variant	Frame_Shift_Del	DEL	TACT	TACT	-			TCGA-06-0125-01	TCGA-06-0125-01	TACT	TACT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.955_958del	p.Thr319Ter	p.T319*	ENST00000371953	NM_000314.4	317	gTACTt/gt	0			1			-	VL/X	uc001kfb.2	protein_coding	YES	CCDS31238.1	V317fs*3(SKUT1_SOFT_TISSUE)|V317fs*3(EVSAT_BREAST)|V317fs*3(IGROV1_OVARY)|V317fs*3(ISHIKAWAHERAKLIO02ER_ENDOMETRIUM)	31	950-953/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.L318fs*2(17)|p.V317fs*3(16)|p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.V317fs*6(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.L318F(1)|p.T318fs*2(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(949-954)GTACTTfs			PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Gene3D:1d5rA02,Pfam_domain:PF10409,PIRSF_domain:PIRSF038025,Superfamily_domains:SSF49562	phosphatase and tensin homolog				ENSP00000361021		9-Aug									COSM4898	9-Aug	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89720799_89720802delTACT	9588	5		HIGH								--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1	1			p.V317fs	NM_000314	NP_000305			1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		9	1981_1984	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	317_318			C2 tensin-type.		deletion	PTEN,frameshift_variant,p.Thr319Ter,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000472832,;	uc001kfb.2	c.950_953delTACT	2307-2310/9027	5	5	V317fs*3(SKUT1_SOFT_TISSUE)|V317fs*3(EVSAT_BREAST)|V317fs*3(IGROV1_OVARY)|V317fs*3(ISHIKAWAHERAKLIO02ER_ENDOMETRIUM)	31	c.950_953delTACT	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	DEL	c.(949-954)GTACTTfs	28	28		p.L318fs*2(17)|p.V317fs*3(16)|p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.V317fs*6(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.L318F(1)|p.T318fs*2(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89720802	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.333	ENSG00000171862	12528	g.chr10:89720799_89720802delTACT	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		p.L318fs(JHOM1-Tumor)|p.V317fs(SKUT1-Tumor)|p.V317fs(EVSAT-Tumor)|p.V317fs(ISHIKAWAHERAKLIO02ER-Tumor)	264		p.L318fs(JHOM1-Tumor)|p.V317fs(SKUT1-Tumor)|p.V317fs(EVSAT-Tumor)|p.V317fs(ISHIKAWAHERAKLIO02ER-Tumor)	264														0.67	1	1	0	1	0	0	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	-				12	GBM-06-0125-TP	p.V317fs	TACT	GAATATCTAGTACTTACTTTAACA	NM_000314	NP_000305	89720799	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	9	1981_1984	+	-	-		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Frame_Shift_Del	317_318			C2 tensin-type.			
PTEN	5728	broad.mit.edu	GRCh37	10	89692922	89692922	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0155-01	TCGA-06-0155-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.406T>C	p.Cys136Arg	p.C136R	ENST00000371953	NM_000314.4	136	Tgt/Cgt	0			1			C	C/R	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	406/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.C136Y(7)|p.R55fs*1(4)|p.C136F(3)|p.I135fs*44(3)|p.C136fs*1(2)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.C136R(2)|p.I135_A137>T(1)|p.A121_F145del(1)|p.I135fs*6(1)|p.C136_A137insGM(1)|p.C136W(1)|p.T131fs*42(1)|p.F56fs*2(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(406-408)TGT>CGT			PROSITE_profiles:PS51181,hmmpanther:PTHR12305,Gene3D:3.90.190.10,Pfam_domain:PF00782,PIRSF_domain:PIRSF038025,SMART_domains:SM00404,Superfamily_domains:SSF52799	phosphatase and tensin homolog				ENSP00000361021		9-May									COSM5096	9-May	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89692922T>C	9588			MODERATE		3.85	high	getma.org/?cm=msa&ty=f&p=PTEN_HUMAN&rb=47&re=175&var=C136R	getma.org/pdb.php?prot=PTEN_HUMAN&from=47&to=175&var=C136R	getma.org/?cm=var&var=hg19,10,89692922,T,C&fts=all	C136R	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1	1		possibly_damaging(0.634)	p.C136R	NM_000314	NP_000305		deleterious(0.02)	1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		6	1437	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	136		C -> Y (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P3).	Phosphatase tensin-type.		SNV	PTEN,missense_variant,p.Cys136Arg,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000498703,;	uc001kfb.2	c.406T>C	1763/9027	3	3		31	c.406T>C	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(406-408)TGT>CGT	61	61		p.C136Y(7)|p.R55fs*1(4)|p.C136F(3)|p.I135fs*44(3)|p.C136fs*1(2)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.C136R(2)|p.I135_A137>T(1)|p.A121_F145del(1)|p.I135fs*6(1)|p.C136_A137insGM(1)|p.C136W(1)|p.T131fs*42(1)|p.F56fs*2(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89692922	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.388	ENSG00000171862	12528	g.chr10:89692922T>C	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264	337.791084	KEEP	57	56	-1	30	27	57	56	-1	341.380058	30	27	0.662338	1	0	0	0	0	1	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	C				27	GBM-06-0155-TP	p.C136R	T	TGTAATGATATGTGCATATTT	NM_000314	NP_000305	89692922	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1437	+	C	C		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Missense_Mutation	136		C -> Y (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P3).	Phosphatase tensin-type.			
PTEN	5728	broad.mit.edu	GRCh37	10	89690819	89690820	+	frameshift_variant	Frame_Shift_Del	DEL	TA	TA	-			TCGA-06-0157-01	TCGA-06-0157-01	TA	TA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.227_228del	p.Tyr76Ter	p.Y76*	ENST00000371953	NM_000314.4	76	TAt/t	0			1			-	Y/X	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	226-227/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.Y76fs*1(12)|p.L70fs*7(4)|p.R55fs*1(4)|p.?(2)|p.C71fs*6(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.Y76Y(1)|p.Y76*(1)|p.Y76del(1)|p.H75_T78del(1)|p.F56fs*2(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(226-228)TATfs			PROSITE_profiles:PS51181,hmmpanther:PTHR12305,Gene3D:3.90.190.10,PIRSF_domain:PIRSF038025,SMART_domains:SM00404,Superfamily_domains:SSF52799	phosphatase and tensin homolog				ENSP00000361021		9-Apr									COSM4963	9-Apr	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89690819_89690820delTA	9588	1		HIGH								--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1	1			p.Y76fs	NM_000314	NP_000305			1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		5	1257_1258	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	76			Phosphatase tensin-type.		deletion	PTEN,frameshift_variant,p.Tyr76Ter,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000498703,;	uc001kfb.2	c.226_227delTA	1583-1584/9027	5	5		31	c.226_227delTA	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	DEL	c.(226-228)TATfs	54	54		p.Y76fs*1(12)|p.L70fs*7(4)|p.R55fs*1(4)|p.?(2)|p.C71fs*6(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.Y76Y(1)|p.Y76*(1)|p.Y76del(1)|p.H75_T78del(1)|p.F56fs*2(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89690820	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.272	ENSG00000171862	12528	g.chr10:89690819_89690820delTA	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		p.Y76fs(HEC151-Tumor)	264		p.Y76fs(HEC151-Tumor)	264														0.5	1	1	0	1	0	0	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	-				28	GBM-06-0157-TP	p.Y76fs	TA	TGAAAGACATTATGACACCGCC	NM_000314	NP_000305	89690819	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1257_1258	+	-	-		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Frame_Shift_Del	76			Phosphatase tensin-type.			
PTEN	5728	broad.mit.edu	GRCh37	10	89711882	89711882	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0166-01	TCGA-06-0166-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.500C>G	p.Thr167Ser	p.T167S	ENST00000371953	NM_000314.4	167	aCt/aGt	0			1			G	T/S	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	500/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.T167A(4)|p.R55fs*1(4)|p.V166fs*17(3)|p.?(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.V166fs*10(1)|p.T167I(1)|p.G165_K342del(1)|p.G165_*404del(1)|p.T167S(1)|p.T167P(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(499-501)ACT>AGT			PROSITE_profiles:PS51181,hmmpanther:PTHR12305,Gene3D:3.90.190.10,PIRSF_domain:PIRSF038025,SMART_domains:SM00404,Superfamily_domains:SSF52799	phosphatase and tensin homolog				ENSP00000361021		9-Jun									COSM35323	9-Jun	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89711882C>G	9588			MODERATE		2.02	medium	getma.org/?cm=msa&ty=f&p=PTEN_HUMAN&rb=47&re=175&var=T167S	getma.org/pdb.php?prot=PTEN_HUMAN&from=47&to=175&var=T167S	getma.org/?cm=var&var=hg19,10,89711882,C,G&fts=all	T167S	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1	1		possibly_damaging(0.855)	p.T167S	NM_000314	NP_000305		deleterious(0.01)	1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		7	1531	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	167	T->A,D: 60% reduction in phosphatase activity towards PtdIns(3,4,5)P3.	T -> P (in breast cancer; severely reduced protein phosphatase activity).	Phosphatase tensin-type.		SNV	PTEN,missense_variant,p.Thr167Ser,ENST00000371953,NM_000314.4;PTEN,upstream_gene_variant,,ENST00000472832,;	uc001kfb.2	c.500C>G	1857/9027	3	3		31	c.500C>G	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(499-501)ACT>AGT	5	5		p.T167A(4)|p.R55fs*1(4)|p.V166fs*17(3)|p.?(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.V166fs*10(1)|p.T167I(1)|p.G165_K342del(1)|p.G165_*404del(1)|p.T167S(1)|p.T167P(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89711882	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.368	ENSG00000171862	12528	g.chr10:89711882C>G	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264	180.770873	KEEP	37	27	-1	80	56	37	27	-1	185.208681	80	56	0.327381	1	0	0	0	0	1	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	G				31	GBM-06-0166-TP	p.T167S	C	CAGGGAGTAACTATTCCCAGT	NM_000314	NP_000305	89711882	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	1531	+	G	G		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Missense_Mutation	167	T->A,D: 60% reduction in phosphatase activity towards PtdIns(3,4,5)P3.	T -> P (in breast cancer; severely reduced protein phosphatase activity).	Phosphatase tensin-type.			
PTEN	5728	broad.mit.edu	GRCh37	10	89720827	89720831	+	frameshift_variant	Frame_Shift_Del	DEL	CAAAG	CAAAG	-			TCGA-06-0168-01	TCGA-06-0168-01	CAAAG	CAAAG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.982_986del	p.Ala328Ter	p.A328*	ENST00000371953	NM_000314.4	326	gaCAAAGca/gaca	0			1			-	DKA/DX	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	978-982/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.D326G(1)|p.G165_K342del(1)|p.D326fs*4(1)|p.W274_F341del(1)|p.A328fs*1(1)|p.D326_K342del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(976-984)GACAAAGCAfs			Low_complexity_(Seg):seg,PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Gene3D:1d5rA02,Pfam_domain:PF10409,PIRSF_domain:PIRSF038025,Superfamily_domains:SSF49562	phosphatase and tensin homolog				ENSP00000361021		9-Aug										9-Aug	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89720827_89720831delCAAAG	9588	4		HIGH								--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																																1			p.D326fs	NM_000314	NP_000305				PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		9	2009_2013	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	326_328	KANKDKANR->AAGADAANA: Reduces growth suppression activity and promotes anchorage-independent growth. Reduces binding to phospholipid membranes in vitro; phosphatase activity towards PtdIns(3,4,5)P3 is not affected.		C2 tensin-type.		deletion	PTEN,frameshift_variant,p.Ala328Ter,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000472832,;	uc001kfb.2	c.978_982delCAAAG	2335-2339/9027	5	5		31	c.978_982delCAAAG	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	DEL	c.(976-984)GACAAAGCAfs	4	4		p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.D326G(1)|p.G165_K342del(1)|p.D326fs*4(1)|p.W274_F341del(1)|p.A328fs*1(1)|p.D326_K342del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89720831	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.337	ENSG00000171862	12528	g.chr10:89720827_89720831delCAAAG	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264														0.29	1	1	0	1	0	0	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	-				33	GBM-06-0168-TP	p.D326fs	CAAAG	ATGATCTTGACAAAGCAAATAAAGA	NM_000314	NP_000305	89720827	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	9	2009_2013	+	-	-		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Frame_Shift_Del	326_328	KANKDKANR->AAGADAANA: Reduces growth suppression activity and promotes anchorage-independent growth. Reduces binding to phospholipid membranes in vitro; phosphatase activity towards PtdIns(3,4,5)P3 is not affected.		C2 tensin-type.			
PTEN	5728	broad.mit.edu	GRCh37	10	89653809	89653809	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.107G>A	p.Gly36Glu	p.G36E	ENST00000371953	NM_000314.4	36	gGa/gAa	0			1			A	G/E	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	107/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.?(4)|p.G36E(4)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G36V(2)|p.G36fs*18(1)|p.G36*(1)|p.A34_G36del(1)|p.G36R(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(106-108)GGA>GAA			PROSITE_profiles:PS51181,hmmpanther:PTHR12305,Gene3D:3.90.190.10,PIRSF_domain:PIRSF038025,SMART_domains:SM00404,Superfamily_domains:SSF52799	phosphatase and tensin homolog				ENSP00000361021		9-Feb									COSM5137	9-Feb	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89653809G>A	9588			MODERATE		3.335	medium	getma.org/?cm=msa&ty=f&p=PTEN_HUMAN&rb=14&re=185&var=G36E	getma.org/pdb.php?prot=PTEN_HUMAN&from=14&to=185&var=G36E	getma.org/?cm=var&var=hg19,10,89653809,G,A&fts=all	G36E	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1	1		probably_damaging(0.94)	p.G36E	NM_000314	NP_000305		deleterious(0)	1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		3	1138	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	36		G -> R (in endometrial hyperplasia).|G -> E (in glioma).	Phosphatase tensin-type.		SNV	PTEN,missense_variant,p.Gly36Glu,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000462694,;	uc001kfb.2	c.107G>A	1464/9027	2	2		31	c.107G>A	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(106-108)GGA>GAA	25	25		p.?(4)|p.G36E(4)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G36V(2)|p.G36fs*18(1)|p.G36*(1)|p.A34_G36del(1)|p.G36R(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89653809	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.284	ENSG00000171862	12528	g.chr10:89653809G>A	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264	138.478288	KEEP	30	22	-1	38	35	30	22	-1	139.287941	38	35	0.407407	1	0	0	0	0	1	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	A				39	GBM-06-0184-TP	p.G36E	G	ATTGCTATGGGATTTCCTGCA	NM_000314	NP_000305	89653809	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	3	1138	+	A	A		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Missense_Mutation	36		G -> R (in endometrial hyperplasia).|G -> E (in glioma).	Phosphatase tensin-type.			
PTEN	5728	broad.mit.edu	GRCh37	10	89720812	89720812	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0188-01	TCGA-06-0188-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.968del	p.Asn323MetfsTer21	p.N323Mfs*21	ENST00000371953	NM_000314.4	321	acA/ac	0			1			-	T/X	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	963/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.T321fs*23(9)|p.T321fs*3(7)|p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.N323fs*2(2)|p.T319_K332del(1)|p.T321fs*22(1)|p.G165_*404del(1)|p.G165_K342del(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.T321fs*4(1)|p.T321fs*6(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(961-963)ACAfs			PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Gene3D:1d5rA02,Pfam_domain:PF10409,PIRSF_domain:PIRSF038025,Superfamily_domains:SSF49562	phosphatase and tensin homolog				ENSP00000361021		9-Aug									COSM5823	9-Aug	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89720812delA	9588	5		HIGH								--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1	1			p.T321fs	NM_000314	NP_000305			1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		9	1994	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	321			C2 tensin-type.		deletion	PTEN,frameshift_variant,p.Asn323MetfsTer21,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000472832,;	uc001kfb.2	c.963delA	2320/9027	5	5		31	c.963delA	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	DEL	c.(961-963)ACAfs	15	15		p.T321fs*23(9)|p.T321fs*3(7)|p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.N323fs*2(2)|p.T319_K332del(1)|p.T321fs*22(1)|p.G165_*404del(1)|p.G165_K342del(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.T321fs*4(1)|p.T321fs*6(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89720812	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.323	ENSG00000171862	12528	g.chr10:89720812delA	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		p.T321fs(CAL51-Tumor)|p.T321fs(MFE296-Tumor)|p.T321fs(SKUT1-Tumor)	264		p.T321fs(CAL51-Tumor)|p.T321fs(MFE296-Tumor)|p.T321fs(SKUT1-Tumor)	264														0.66	1	1	0	1	0	0	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	-				41	GBM-06-0188-TP	p.T321fs	A	TTACTTTAACAAAAAATGATC	NM_000314	NP_000305	89720812	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	9	1994	+	-	-		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Frame_Shift_Del	321			C2 tensin-type.			
PTEN	5728	broad.mit.edu	GRCh37	10	89692792	89692792	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0190-01	TCGA-06-0190-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.276C>A	p.Asp92Glu	p.D92E	ENST00000371953	NM_000314.4	92	gaC/gaA	0			1			A	D/E	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	276/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.R55fs*1(4)|p.D92H(3)|p.D92V(2)|p.?(2)|p.Y27fs*1(2)|p.D92G(2)|p.D92N(2)|p.Y27_N212>Y(2)|p.D92fs*7(1)|p.D92Y(1)|p.D92E(1)|p.Q87_P96del(1)|p.D92A(1)|p.N82_P95del(1)|p.F90_P95>L(1)|p.F56fs*2(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(274-276)GAC>GAA			PROSITE_profiles:PS51181,hmmpanther:PTHR12305,Gene3D:3.90.190.10,Pfam_domain:PF00782,PIRSF_domain:PIRSF038025,SMART_domains:SM00404,Superfamily_domains:SSF52799	phosphatase and tensin homolog				ENSP00000361021		9-May	8.24E-06							6.06E-05	rs779530981,COSM35759	9-May	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89692792C>A	9588			MODERATE		3.575	high	getma.org/?cm=msa&ty=f&p=PTEN_HUMAN&rb=47&re=175&var=D92E	getma.org/pdb.php?prot=PTEN_HUMAN&from=47&to=175&var=D92E	getma.org/?cm=var&var=hg19,10,89692792,C,A&fts=all	D92E	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															0,1	1		probably_damaging(0.996)	p.D92E	NM_000314	NP_000305		deleterious(0)	0,1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		6	1307	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	92	D->A: 700-fold reduction in phosphatase activity towards PtdIns(3,4,5)P3. Loss of protein phosphatase activity. Unable to inhibit focal adhesion formation.		Phosphatase tensin-type.		SNV	PTEN,missense_variant,p.Asp92Glu,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000498703,;	uc001kfb.2	c.276C>A	1633/9027	1	1		31	c.276C>A	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(274-276)GAC>GAA	49	49		p.R55fs*1(4)|p.D92H(3)|p.D92V(2)|p.?(2)|p.Y27fs*1(2)|p.D92G(2)|p.D92N(2)|p.Y27_N212>Y(2)|p.D92fs*7(1)|p.D92Y(1)|p.D92E(1)|p.Q87_P96del(1)|p.D92A(1)|p.N82_P95del(1)|p.F90_P95>L(1)|p.F56fs*2(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89692792	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.333	ENSG00000171862	12528	g.chr10:89692792C>A	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		p.D92E(HCC33-Tumor)	264		p.D92E(HCC33-Tumor)	264	112.401153	KEEP	17	24	0.585365854	62	48	17	24	0.585365854	116.830711	62	48	0.301587	1	0	0	0	0	1	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	A				43	GBM-06-0190-TP	p.D92E	C	CTTTTGAAGACCATAACCCAC	NM_000314	NP_000305	89692792	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1307	+	A	A		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Missense_Mutation	92	D->A: 700-fold reduction in phosphatase activity towards PtdIns(3,4,5)P3. Loss of protein phosphatase activity. Unable to inhibit focal adhesion formation.		Phosphatase tensin-type.			
PTEN	5728	broad.mit.edu	GRCh37	10	89720794	89720794	+	stop_gained	Nonsense_Mutation	SNP	T	T	A			TCGA-06-0192-01	TCGA-06-0192-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.945T>A	p.Tyr315Ter	p.Y315*	ENST00000371953	NM_000314.4	315	taT/taA	0			1			A	Y/*	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	945/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.Y315fs*9(1)|p.G165_*404del(1)|p.G165_K342del(1)|p.L316fs*2(1)|p.W274_F341del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(943-945)TAT>TAA			PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Gene3D:1d5rA02,Pfam_domain:PF10409,PIRSF_domain:PIRSF038025,Superfamily_domains:SSF49562	phosphatase and tensin homolog				ENSP00000361021		9-Aug									COSM3397290	9-Aug	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89720794T>A	9588			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,10,89720794,T,A&fts=all	Y315*	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1	1			p.Y315*	NM_000314	NP_000305			1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		9	1976	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	315			C2 tensin-type.		SNV	PTEN,stop_gained,p.Tyr315Ter,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000472832,;	uc001kfb.2	c.945T>A	2302/9027	5	1		31	c.945T>A	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(943-945)TAT>TAA	52	52		p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.Y315fs*9(1)|p.G165_*404del(1)|p.G165_K342del(1)|p.L316fs*2(1)|p.W274_F341del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89720794	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.328	ENSG00000171862	12528	g.chr10:89720794T>A	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264	115.393301	KEEP	18	23	-1	26	21	18	23	-1	115.567074	26	21	0.45	1	0	0	0	0	0	1	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	A				44	GBM-06-0192-TP	p.Y315*	T	ACAAGGAATATCTAGTACTTA	NM_000314	NP_000305	89720794	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	9	1976	+	A	A		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Nonsense_Mutation	315			C2 tensin-type.			
PTEN	5728	broad.mit.edu	GRCh37	10	89692992	89692992	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01	TCGA-06-0195-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.476G>A	p.Arg159Lys	p.R159K	ENST00000371953	NM_000314.4	159	aGg/aAg	0			1			A	R/K	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	476/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.R159S(4)|p.R55fs*1(4)|p.R159K(4)|p.?(2)|p.Y27fs*1(2)|p.R159fs*8(2)|p.Y27_N212>Y(2)|p.F56fs*2(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(475-477)AGG>AAG			PROSITE_profiles:PS51181,hmmpanther:PTHR12305,Gene3D:3.90.190.10,Pfam_domain:PF00782,PIRSF_domain:PIRSF038025,SMART_domains:SM00404,Superfamily_domains:SSF52799	phosphatase and tensin homolog				ENSP00000361021		9-May									COSM23653	9-May	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89692992G>A	9588			MODERATE		2.67	medium	getma.org/?cm=msa&ty=f&p=PTEN_HUMAN&rb=47&re=175&var=R159K	getma.org/pdb.php?prot=PTEN_HUMAN&from=47&to=175&var=R159K	getma.org/?cm=var&var=hg19,10,89692992,G,A&fts=all	R159K	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1	1		probably_damaging(0.954)	p.R159K	NM_000314	NP_000305		deleterious(0.04)	1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		6	1507	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	159			Phosphatase tensin-type.		SNV	PTEN,missense_variant,p.Arg159Lys,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000498703,;	uc001kfb.2	c.476G>A	1833/9027	2	2		31	c.476G>A	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(475-477)AGG>AAG	36	36		p.R159S(4)|p.R55fs*1(4)|p.R159K(4)|p.?(2)|p.Y27fs*1(2)|p.R159fs*8(2)|p.Y27_N212>Y(2)|p.F56fs*2(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89692992	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.363	ENSG00000171862	12528	g.chr10:89692992G>A	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264	192.738594	KEEP	37	22	-1	9	9	37	22	-1	198.589696	9	9	0.8125	1	0	0	0	0	1	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	A				45	GBM-06-0195-TP	p.R159K	G	GGGGAAGTAAGGACCAGAGAC	NM_000314	NP_000305	89692992	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1507	+	A	A		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Missense_Mutation	159			Phosphatase tensin-type.			
PTEN	5728	broad.mit.edu	GRCh37	10	89692835	89692835	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs57374291		TCGA-06-0216-01	TCGA-06-0216-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.319G>C	p.Asp107His	p.D107H	ENST00000371953	NM_000314.4	107	Gat/Cat	0			1			C	D/H	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	319/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.R55fs*1(4)|p.D107Y(3)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.D107N(1)|p.D107A(1)|p.F56fs*2(1)|p.P103fs*3(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(319-321)GAT>CAT			PROSITE_profiles:PS51181,hmmpanther:PTHR12305,Gene3D:3.90.190.10,Pfam_domain:PF00782,PIRSF_domain:PIRSF038025,SMART_domains:SM00404,Superfamily_domains:SSF52799	phosphatase and tensin homolog				ENSP00000361021		9-May									COSM3397287	9-May	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89692835G>C	9588			MODERATE		1.75	low	getma.org/?cm=msa&ty=f&p=PTEN_HUMAN&rb=47&re=175&var=D107H	getma.org/pdb.php?prot=PTEN_HUMAN&from=47&to=175&var=D107H	getma.org/?cm=var&var=hg19,10,89692835,G,C&fts=all	D107H	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1	1		possibly_damaging(0.596)	p.D107H	NM_000314	NP_000305		deleterious(0)	1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		6	1350	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	107		D -> Y (in BZS and glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		SNV	PTEN,missense_variant,p.Asp107His,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000498703,;	uc001kfb.2	c.319G>C	1676/9027	3	3		31	c.319G>C	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(319-321)GAT>CAT	6	6		p.R55fs*1(4)|p.D107Y(3)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.D107N(1)|p.D107A(1)|p.F56fs*2(1)|p.P103fs*3(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89692835	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.368	ENSG00000171862	12528	g.chr10:89692835G>C	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264	108.372032	KEEP	16	17	-1	8	7	16	17	-1	111.7153	8	7	0.810811	1	0	0	0	0	1	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	C				51	GBM-06-0216-TP	p.D107H	G	CTTTTGTGAAGATCTTGACCA	NM_000314	NP_000305	89692835	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1350	+	C	C		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Missense_Mutation	107		D -> Y (in BZS and glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.			
PTEN	5728	broad.mit.edu	GRCh37	10	89711988	89711989	+	frameshift_variant	Frame_Shift_Del	DEL	TA	TA	-			TCGA-06-0644-01	TCGA-06-0644-01	TA	TA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.607_608del	p.Ile203SerfsTer39	p.I203Sfs*39	ENST00000371953	NM_000314.4	202	acTAtt/actt	0			1			-	TI/TX	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	606-607/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.R55fs*1(4)|p.?(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.T202I(1)|p.T202fs*19(1)|p.G165_K342del(1)|p.I203fs*39(1)|p.G165_*404del(1)|p.I203fs*18(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(604-609)ACTATTfs			PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Gene3D:1d5rA02,Pfam_domain:PF10409,PIRSF_domain:PIRSF038025,Superfamily_domains:SSF49562	phosphatase and tensin homolog				ENSP00000361021		9-Jun									COSM921115	9-Jun	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89711988_89711989delTA	9588	1		HIGH								--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1	1			p.T202fs	NM_000314	NP_000305			1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		7	1637_1638	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	202_203			C2 tensin-type.		deletion	PTEN,frameshift_variant,p.Ile203SerfsTer39,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000472832,;	uc001kfb.2	c.606_607delTA	1963-1964/9027	5	5		31	c.606_607delTA	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	DEL	c.(604-609)ACTATTfs	41	41		p.R55fs*1(4)|p.?(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.T202I(1)|p.T202fs*19(1)|p.G165_K342del(1)|p.I203fs*39(1)|p.G165_*404del(1)|p.I203fs*18(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89711989	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.371	ENSG00000171862	12528	g.chr10:89711988_89711989delTA	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264														0.43	1	1	0	1	0	0	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	-				58	GBM-06-0644-TP	p.T202fs	TA	TGTTTGAAACTATTCCAATGTT	NM_000314	NP_000305	89711988	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	1637_1638	+	-	-		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Frame_Shift_Del	202_203			C2 tensin-type.			
PTEN	5728	broad.mit.edu	GRCh37	10	89692904	89692904	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs121909224		TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.388C>G	p.Arg130Gly	p.R130G	ENST00000371953	NM_000314.4	130	Cga/Gga	0			1			G	R/G	uc001kfb.2	protein_coding	YES	CCDS31238.1	R130G(OV56_OVARY)|R130G(KMBC2_URINARY_TRACT)	31	388/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	pathogenic		p.R130G(65)|p.R130*(61)|p.R130Q(43)|p.R130fs*4(12)|p.R130L(7)|p.R130P(4)|p.R55fs*1(4)|p.K128_R130del(3)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.K128fs*47(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.R130R(1)|p.F56fs*2(1)|p.G129fs*50(1)|p.G129fs*51(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(388-390)CGA>GGA			PROSITE_profiles:PS51181,hmmpanther:PTHR12305,PROSITE_patterns:PS00383,Gene3D:3.90.190.10,Pfam_domain:PF00782,PIRSF_domain:PIRSF038025,SMART_domains:SM00404,Superfamily_domains:SSF52799	phosphatase and tensin homolog				ENSP00000361021		9-May									rs121909224,COSM5219	9-May	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89692904C>G	9588			MODERATE		4.45	high	getma.org/?cm=msa&ty=f&p=PTEN_HUMAN&rb=47&re=175&var=R130G	getma.org/pdb.php?prot=PTEN_HUMAN&from=47&to=175&var=R130G	getma.org/?cm=var&var=hg19,10,89692904,C,G&fts=all	R130G	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1,1	1		probably_damaging(0.999)	p.R130G	NM_000314	NP_000305		deleterious(0)	0,1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		6	1419	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	130	R->M: Does not affect the ability to inhibit AKT/PKB activation.	R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).	Phosphatase tensin-type.		SNV	PTEN,missense_variant,p.Arg130Gly,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000498703,;	uc001kfb.2	c.388C>G	1745/9027	3	3	R130G(OV56_OVARY)|R130G(KMBC2_URINARY_TRACT)	31	c.388C>G	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(388-390)CGA>GGA	49	49		p.R130G(65)|p.R130*(61)|p.R130Q(43)|p.R130fs*4(12)|p.R130L(7)|p.R130P(4)|p.R55fs*1(4)|p.K128_R130del(3)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.K128fs*47(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.R130R(1)|p.F56fs*2(1)|p.G129fs*50(1)|p.G129fs*51(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89692904	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.403	ENSG00000171862	12528	g.chr10:89692904C>G	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		p.R130G(OV56-Tumor)|p.KGR128del(A2780-Tumor)|p.R130G(KMBC2-Tumor)|p.G129fs(U937-Tumor)	264		p.R130G(OV56-Tumor)|p.KGR128del(A2780-Tumor)|p.R130G(KMBC2-Tumor)|p.G129fs(U937-Tumor)	264	-1.554518	KEEP	5	3	-1	57	61	5	3	-1	18.604284	57	61	0.067308	1	0	0	0	0	1	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	G				62	GBM-06-0649-TP	p.R130G	C	TGGAAAGGGACGAACTGGTGT	NM_000314	NP_000305	89692904	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1419	+	G	G		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Missense_Mutation	130	R->M: Does not affect the ability to inhibit AKT/PKB activation.	R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).	Phosphatase tensin-type.			
PTEN	5728	broad.mit.edu	GRCh37	10	89692785	89692785	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0743-01	TCGA-06-0743-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.269T>C	p.Phe90Ser	p.F90S	ENST00000371953	NM_000314.4	90	tTt/tCt	0			1			C	F/S	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	269/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.F90fs*9(5)|p.R55fs*1(4)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.F90L(1)|p.F90S(1)|p.Q87_P96del(1)|p.N82_P95del(1)|p.F90_P95>L(1)|p.F56fs*2(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(268-270)TTT>TCT			PROSITE_profiles:PS51181,hmmpanther:PTHR12305,Gene3D:3.90.190.10,Pfam_domain:PF00782,PIRSF_domain:PIRSF038025,SMART_domains:SM00404,Superfamily_domains:SSF52799	phosphatase and tensin homolog				ENSP00000361021		9-May									COSM5141	9-May	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89692785T>C	9588			MODERATE		4.095	high	getma.org/?cm=msa&ty=f&p=PTEN_HUMAN&rb=47&re=175&var=F90S	getma.org/pdb.php?prot=PTEN_HUMAN&from=47&to=175&var=F90S	getma.org/?cm=var&var=hg19,10,89692785,T,C&fts=all	F90S	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1	1		probably_damaging(0.973)	p.F90S	NM_000314	NP_000305		deleterious(0)	1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		6	1300	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	90			Phosphatase tensin-type.		SNV	PTEN,missense_variant,p.Phe90Ser,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000498703,;	uc001kfb.2	c.269T>C	1626/9027	3	3		31	c.269T>C	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(268-270)TTT>TCT	14	14		p.F90fs*9(5)|p.R55fs*1(4)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.F90L(1)|p.F90S(1)|p.Q87_P96del(1)|p.N82_P95del(1)|p.F90_P95>L(1)|p.F56fs*2(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89692785	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.338	ENSG00000171862	12528	g.chr10:89692785T>C	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264	5.405915	KEEP	2	1	-1	9	21	2	1	-1	9.193585	9	21	0.115385	1	0	0	0	0	1	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	C				65	GBM-06-0743-TP	p.F90S	T	CAATATCCTTTTGAAGACCAT	NM_000314	NP_000305	89692785	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1300	+	C	C		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Missense_Mutation	90			Phosphatase tensin-type.			
PTEN	5728	broad.mit.edu	GRCh37	10	89720847	89720847	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.999del	p.Asn334ThrfsTer10	p.N334Tfs*10	ENST00000371953	NM_000314.4	333	gCc/gc	0			1			-	A/X	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	998/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.W274_F341del(1)|p.D326_K342del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(997-999)GCCfs			Low_complexity_(Seg):seg,PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Gene3D:1d5rA02,Pfam_domain:PF10409,PIRSF_domain:PIRSF038025,Superfamily_domains:SSF49562	phosphatase and tensin homolog				ENSP00000361021		9-Aug										9-Aug	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89720847delC	9588	1		HIGH								--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																																1			p.A333fs	NM_000314	NP_000305				PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		9	2029	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	333	KANKDKANR->AAGADAANA: Reduces growth suppression activity and promotes anchorage-independent growth. Reduces binding to phospholipid membranes in vitro; phosphatase activity towards PtdIns(3,4,5)P3 is not affected.		C2 tensin-type.		deletion	PTEN,frameshift_variant,p.Asn334ThrfsTer10,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000472832,;	uc001kfb.2	c.998delC	2355/9027	5	5		31	c.998delC	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	DEL	c.(997-999)GCCfs	17	17		p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.W274_F341del(1)|p.D326_K342del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89720847	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.328	ENSG00000171862	12528	g.chr10:89720847delC	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264														0.27	1	1	0	1	0	0	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	-				65	GBM-06-0743-TP	p.A333fs	C	AAAGACAAAGCCAACCGATAC	NM_000314	NP_000305	89720847	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	9	2029	+	-	-		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Frame_Shift_Del	333	KANKDKANR->AAGADAANA: Reduces growth suppression activity and promotes anchorage-independent growth. Reduces binding to phospholipid membranes in vitro; phosphatase activity towards PtdIns(3,4,5)P3 is not affected.		C2 tensin-type.			
PTEN	5728	broad.mit.edu	GRCh37	10	89720738	89720738	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0749-01	TCGA-06-0749-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.889del	p.Asp297IlefsTer10	p.D297Ifs*10	ENST00000371953	NM_000314.4	297	Gat/at	0			1			-	D/X	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	889/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.W274_F341del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(889-891)GATfs			PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Gene3D:1d5rA02,Pfam_domain:PF10409,PIRSF_domain:PIRSF038025,Superfamily_domains:SSF49562	phosphatase and tensin homolog				ENSP00000361021		9-Aug										9-Aug	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89720738delG	9588			HIGH								--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																																1			p.D297fs	NM_000314	NP_000305				PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		9	1920	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	297			C2 tensin-type.		deletion	PTEN,frameshift_variant,p.Asp297IlefsTer10,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000472832,;	uc001kfb.2	c.889delG	2246/9027	5	5		31	c.889delG	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	DEL	c.(889-891)GATfs	28	28		p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.W274_F341del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89720738	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.318	ENSG00000171862	12528	g.chr10:89720738delG	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264														0.46	1	1	0	1	0	0	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	-				69	GBM-06-0749-TP	p.D297fs	G	AAGTCTATGTGATCAAGAAAT	NM_000314	NP_000305	89720738	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	9	1920	+	-	-		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Frame_Shift_Del	297			C2 tensin-type.			
PTEN	5728	broad.mit.edu	GRCh37	10	89717712	89717712	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0875-01	TCGA-06-0875-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.737C>T	p.Pro246Leu	p.P246L	ENST00000371953	NM_000314.4	246	cCg/cTg	0			1			T	P/L	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	737/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	pathogenic		p.P246L(6)|p.R55fs*1(4)|p.P246fs*10(3)|p.L247fs*10(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L247fs*11(1)|p.L247fs*12(1)|p.G165_*404del(1)|p.?(1)|p.F243fs*9(1)|p.P246fs*11(1)|p.P246_L247insGP(1)|p.G165_K342del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(736-738)CCG>CTG			PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Gene3D:1d5rA02,Pfam_domain:PF10409,PIRSF_domain:PIRSF038025,Superfamily_domains:SSF49562	phosphatase and tensin homolog				ENSP00000361021		9-Jul									rs587782350,COSM5111	9-Jul	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89717712C>T	9588			MODERATE		2.19	medium	getma.org/?cm=msa&ty=f&p=PTEN_HUMAN&rb=188&re=349&var=P246L	getma.org/pdb.php?prot=PTEN_HUMAN&from=188&to=349&var=P246L	getma.org/?cm=var&var=hg19,10,89717712,C,T&fts=all	P246L	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1,1	1		benign(0.132)	p.P246L	NM_000314	NP_000305		tolerated(0.06)	0,1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		8	1768	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	246		P -> L (in CD and BZS).	C2 tensin-type.		SNV	PTEN,missense_variant,p.Pro246Leu,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000472832,;	uc001kfb.2	c.737C>T	2094/9027	1	1		31	c.737C>T	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(736-738)CCG>CTG	2	2		p.P246L(6)|p.R55fs*1(4)|p.P246fs*10(3)|p.L247fs*10(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L247fs*11(1)|p.L247fs*12(1)|p.G165_*404del(1)|p.?(1)|p.F243fs*9(1)|p.P246fs*11(1)|p.P246_L247insGP(1)|p.G165_K342del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89717712	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.418	ENSG00000171862	12528	g.chr10:89717712C>T	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		p.Q245fs(NCIH1781-Tumor)	264		p.Q245fs(NCIH1781-Tumor)	264	195.054637	KEEP	37	25	-1	18	15	37	25	-1	197.36055	18	15	0.679012	1	0	0	0	0	1	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	T				71	GBM-06-0875-TP	p.P246L	C	TTCCCTCAGCCGTTACCTGTG	NM_000314	NP_000305	89717712	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	1768	+	T	T		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Missense_Mutation	246		P -> L (in CD and BZS).	C2 tensin-type.			
PTEN	5728	broad.mit.edu	GRCh37	10	89720659	89720659	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0875-01	TCGA-06-0875-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.810G>A	p.Met270Ile	p.M270I	ENST00000371953	NM_000314.4	270	atG/atA	0			1			A	M/I	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	810/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.G165_*404del(1)|p.G165_K342del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(808-810)ATG>ATA			PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Gene3D:1d5rA02,Pfam_domain:PF10409,PIRSF_domain:PIRSF038025,Superfamily_domains:SSF49562	phosphatase and tensin homolog				ENSP00000361021		9-Aug									COSM921139	9-Aug	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89720659G>A	9588			MODERATE		1.265	low	getma.org/?cm=msa&ty=f&p=PTEN_HUMAN&rb=188&re=349&var=M270I	getma.org/pdb.php?prot=PTEN_HUMAN&from=188&to=349&var=M270I	getma.org/?cm=var&var=hg19,10,89720659,G,A&fts=all	M270I	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1	1		benign(0.086)	p.M270I	NM_000314	NP_000305		tolerated(0.06)	1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		9	1841	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	270			C2 tensin-type.		SNV	PTEN,missense_variant,p.Met270Ile,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000472832,;	uc001kfb.2	c.810G>A	2167/9027	2	2		31	c.810G>A	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(808-810)ATG>ATA	20	20		p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.G165_*404del(1)|p.G165_K342del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89720659	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.239	ENSG00000171862	12528	g.chr10:89720659G>A	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264	31.144147	KEEP	10	5	-1	4	6	10	5	-1	31.234709	4	6	0.578947	1	0	0	0	0	1	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	A				71	GBM-06-0875-TP	p.M270I	G	AGGACAAAATGTTTCACTTTT	NM_000314	NP_000305	89720659	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	9	1841	+	A	A		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Missense_Mutation	270			C2 tensin-type.			
PTEN	5728	broad.mit.edu	GRCh37	10	89692830	89692830	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0881-01	TCGA-06-0881-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.314G>A	p.Cys105Tyr	p.C105Y	ENST00000371953	NM_000314.4	105	tGt/tAt	0			1			A	C/Y	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	314/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	uncertain_significance		p.C105F(6)|p.C105W(4)|p.R55fs*1(4)|p.C105S(3)|p.?(2)|p.Y27fs*1(2)|p.C105Y(2)|p.Y27_N212>Y(2)|p.C105fs*2(1)|p.C105fs*1(1)|p.C105G(1)|p.C105R(1)|p.F56fs*2(1)|p.P103fs*3(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(313-315)TGT>TAT			PROSITE_profiles:PS51181,hmmpanther:PTHR12305,Gene3D:3.90.190.10,Pfam_domain:PF00782,PIRSF_domain:PIRSF038025,SMART_domains:SM00404,Superfamily_domains:SSF52799	phosphatase and tensin homolog				ENSP00000361021		9-May									rs587782343,COSM5113	9-May	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89692830G>A	9588			MODERATE		3.1	medium	getma.org/?cm=msa&ty=f&p=PTEN_HUMAN&rb=47&re=175&var=C105Y	getma.org/pdb.php?prot=PTEN_HUMAN&from=47&to=175&var=C105Y	getma.org/?cm=var&var=hg19,10,89692830,G,A&fts=all	C105Y	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1,1	1		probably_damaging(0.999)	p.C105Y	NM_000314	NP_000305		deleterious(0)	0,1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		6	1345	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	105		C -> F (in BZS; loss of phosphatase activity towards Ins(1,3,4,5)P4).|C -> Y (in BZS).	Phosphatase tensin-type.		SNV	PTEN,missense_variant,p.Cys105Tyr,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000498703,;	uc001kfb.2	c.314G>A	1671/9027	2	2		31	c.314G>A	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(313-315)TGT>TAT	45	45		p.C105F(6)|p.C105W(4)|p.R55fs*1(4)|p.C105S(3)|p.?(2)|p.Y27fs*1(2)|p.C105Y(2)|p.Y27_N212>Y(2)|p.C105fs*2(1)|p.C105fs*1(1)|p.C105G(1)|p.C105R(1)|p.F56fs*2(1)|p.P103fs*3(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89692830	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.373	ENSG00000171862	12528	g.chr10:89692830G>A	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264	-4.631544	KEEP	9	5	-1	97	64	9	5	-1	24.498049	97	64	0.075949	1	0	0	0	0	1	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	A				76	GBM-06-0881-TP	p.C105Y	G	AAACCCTTTTGTGAAGATCTT	NM_000314	NP_000305	89692830	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1345	+	A	A		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Missense_Mutation	105		C -> F (in BZS; loss of phosphatase activity towards Ins(1,3,4,5)P4).|C -> Y (in BZS).	Phosphatase tensin-type.			
PTEN	5728	broad.mit.edu	GRCh37	10	89711900	89711900	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs121913294		TCGA-06-0882-01	TCGA-06-0882-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.518G>A	p.Arg173His	p.R173H	ENST00000371953	NM_000314.4	173	cGc/cAc	0			1			A	R/H	uc001kfb.2	protein_coding	YES	CCDS31238.1	R173H(RL952_ENDOMETRIUM)	31	518/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	likely_pathogenic		p.R173C(32)|p.R173H(22)|p.R55fs*1(4)|p.V166fs*17(3)|p.?(3)|p.G165fs*9(3)|p.R173fs*10(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)|p.R173R(1)|p.R173P(1)|p.R172fs*5(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(517-519)CGC>CAC			PROSITE_profiles:PS51181,hmmpanther:PTHR12305,Gene3D:3.90.190.10,PIRSF_domain:PIRSF038025,SMART_domains:SM00404,Superfamily_domains:SSF52799	phosphatase and tensin homolog				ENSP00000361021		9-Jun	8.24E-06	9.69E-05							rs121913294,COSM5039	9-Jun	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89711900G>A	9588			MODERATE		2.675	medium	getma.org/?cm=msa&ty=f&p=PTEN_HUMAN&rb=47&re=175&var=R173H	getma.org/pdb.php?prot=PTEN_HUMAN&from=47&to=175&var=R173H	getma.org/?cm=var&var=hg19,10,89711900,G,A&fts=all	R173H	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1,1	1		probably_damaging(0.913)	p.R173H	NM_000314	NP_000305		deleterious(0.03)	0,1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		7	1549	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	173		R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		SNV	PTEN,missense_variant,p.Arg173His,ENST00000371953,NM_000314.4;PTEN,upstream_gene_variant,,ENST00000472832,;	uc001kfb.2	c.518G>A	1875/9027	1	1	R173H(RL952_ENDOMETRIUM)	31	c.518G>A	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(517-519)CGC>CAC	49	49		p.R173C(32)|p.R173H(22)|p.R55fs*1(4)|p.V166fs*17(3)|p.?(3)|p.G165fs*9(3)|p.R173fs*10(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)|p.R173R(1)|p.R173P(1)|p.R172fs*5(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89711900	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.348	ENSG00000171862	12528	g.chr10:89711900G>A	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		p.R173H(RL952-Tumor)	264		p.R173H(RL952-Tumor)	264	140.06673	KEEP	35	22	-1	65	51	35	22	-1	143.956239	65	51	0.333333	1	0	0	0	0	1	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	A				77	GBM-06-0882-TP	p.R173H	G	AGTCAGAGGCGCTATGTGTAT	NM_000314	NP_000305	89711900	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	1549	+	A	A		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Missense_Mutation	173		R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.			
PTEN	5728	broad.mit.edu	GRCh37	10	89717672	89717672	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs121909219		TCGA-06-0939-01	TCGA-06-0939-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.697C>T	p.Arg233Ter	p.R233*	ENST00000371953	NM_000314.4	233	Cga/Tga	0			1			T	R/*	uc001kfb.2	protein_coding	YES	CCDS31238.1	R233*(JHUEM1_ENDOMETRIUM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(HEC59_ENDOMETRIUM)	31	697/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	pathogenic		p.R233*(61)|p.R233fs*10(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)|p.G165_K342del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(697-699)CGA>TGA			PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Gene3D:1d5rA02,Pfam_domain:PF10409,PIRSF_domain:PIRSF038025,Superfamily_domains:SSF49562	phosphatase and tensin homolog				ENSP00000361021		9-Jul									rs121909219,COSM5154	9-Jul	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89717672C>T	9588			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,10,89717672,C,T&fts=all	R233*	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1,1	1			p.R233*	NM_000314	NP_000305			0,1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		8	1728	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	233			C2 tensin-type.		SNV	PTEN,stop_gained,p.Arg233Ter,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000472832,;	uc001kfb.2	c.697C>T	2054/9027	5	1	R233*(JHUEM1_ENDOMETRIUM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(HEC59_ENDOMETRIUM)	31	c.697C>T	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(697-699)CGA>TGA	3	3		p.R233*(61)|p.R233fs*10(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)|p.G165_K342del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89717672	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.423	ENSG00000171862	12528	g.chr10:89717672C>T	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		p.R233*(JHUEM1-Tumor)|p.R233*(SW1783-Tumor)|p.R233*(SF295-Tumor)|p.T232fs(P31FUJ-Tumor)	264		p.R233*(JHUEM1-Tumor)|p.R233*(SW1783-Tumor)|p.R233*(SF295-Tumor)|p.T232fs(P31FUJ-Tumor)	264	-16.394051	KEEP	1	7	-1	80	81	1	7	-1	13.681172	80	81	0.05	1	0	0	0	0	0	1	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	T				78	GBM-06-0939-TP	p.R233*	C	AGGACCCACACGACGGGAAGA	NM_000314	NP_000305	89717672	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	1728	+	T	T		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Nonsense_Mutation	233			C2 tensin-type.			
PTEN	5728	broad.mit.edu	GRCh37	10	89653833	89653833	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01	TCGA-06-1804-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.131G>A	p.Gly44Asp	p.G44D	ENST00000371953	NM_000314.4	44	gGc/gAc	0			1			A	G/D	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	131/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.?(4)|p.G44G(3)|p.Y27fs*1(2)|p.G44D(2)|p.Y27_N212>Y(2)|p.G44fs*8(1)|p.G44fs*11(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(130-132)GGC>GAC			PROSITE_profiles:PS51181,hmmpanther:PTHR12305,Gene3D:3.90.190.10,PIRSF_domain:PIRSF038025,SMART_domains:SM00404,Superfamily_domains:SSF52799	phosphatase and tensin homolog				ENSP00000361021		9-Feb									COSM5097	9-Feb	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89653833G>A	9588			MODERATE		2.47	medium	getma.org/?cm=msa&ty=f&p=PTEN_HUMAN&rb=14&re=185&var=G44D	getma.org/pdb.php?prot=PTEN_HUMAN&from=14&to=185&var=G44D	getma.org/?cm=var&var=hg19,10,89653833,G,A&fts=all	G44D	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1	1		possibly_damaging(0.66)	p.G44D	NM_000314	NP_000305		deleterious(0)	1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		3	1162	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	44			Phosphatase tensin-type.		SNV	PTEN,missense_variant,p.Gly44Asp,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000462694,;	uc001kfb.2	c.131G>A	1488/9027	1	1		31	c.131G>A	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(130-132)GGC>GAC	59	59		p.?(4)|p.G44G(3)|p.Y27fs*1(2)|p.G44D(2)|p.Y27_N212>Y(2)|p.G44fs*8(1)|p.G44fs*11(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89653833	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.294	ENSG00000171862	12528	g.chr10:89653833G>A	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264	34.93034	KEEP	6	7	-1	3	1	6	7	-1	35.984469	3	1	0.785714	1	0	0	0	0	1	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	A				79	GBM-06-1804-TP	p.G44D	G	AGACTTGAAGGCGTATACAGG	NM_000314	NP_000305	89653833	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	3	1162	+	A	A		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Missense_Mutation	44			Phosphatase tensin-type.			
PTEN	5728	broad.mit.edu	GRCh37	10	89720799	89720802	+	frameshift_variant	Frame_Shift_Del	DEL	TACT	TACT	-			TCGA-06-2561-01	TCGA-06-2561-01	TACT	TACT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.955_958del	p.Thr319Ter	p.T319*	ENST00000371953	NM_000314.4	317	gTACTt/gt	0			1			-	VL/X	uc001kfb.2	protein_coding	YES	CCDS31238.1	V317fs*3(SKUT1_SOFT_TISSUE)|V317fs*3(EVSAT_BREAST)|V317fs*3(IGROV1_OVARY)|V317fs*3(ISHIKAWAHERAKLIO02ER_ENDOMETRIUM)	31	950-953/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.L318fs*2(17)|p.V317fs*3(16)|p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.V317fs*6(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.L318F(1)|p.T318fs*2(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(949-954)GTACTTfs			PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Gene3D:1d5rA02,Pfam_domain:PF10409,PIRSF_domain:PIRSF038025,Superfamily_domains:SSF49562	phosphatase and tensin homolog				ENSP00000361021		9-Aug									COSM4898	9-Aug	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89720799_89720802delTACT	9588	5		HIGH								--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1	1			p.V317fs	NM_000314	NP_000305			1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		9	1981_1984	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	317_318			C2 tensin-type.		deletion	PTEN,frameshift_variant,p.Thr319Ter,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000472832,;	uc001kfb.2	c.950_953delTACT	2307-2310/9027	5	5	V317fs*3(SKUT1_SOFT_TISSUE)|V317fs*3(EVSAT_BREAST)|V317fs*3(IGROV1_OVARY)|V317fs*3(ISHIKAWAHERAKLIO02ER_ENDOMETRIUM)	31	c.950_953delTACT	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	DEL	c.(949-954)GTACTTfs	28	28		p.L318fs*2(17)|p.V317fs*3(16)|p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.V317fs*6(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.L318F(1)|p.T318fs*2(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89720802	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.333	ENSG00000171862	12528	g.chr10:89720799_89720802delTACT	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		p.L318fs(JHOM1-Tumor)|p.V317fs(SKUT1-Tumor)|p.V317fs(EVSAT-Tumor)|p.V317fs(ISHIKAWAHERAKLIO02ER-Tumor)	264		p.L318fs(JHOM1-Tumor)|p.V317fs(SKUT1-Tumor)|p.V317fs(EVSAT-Tumor)|p.V317fs(ISHIKAWAHERAKLIO02ER-Tumor)	264														0.37	1	1	0	1	0	0	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	-				84	GBM-06-2561-TP	p.V317fs	TACT	GAATATCTAGTACTTACTTTAACA	NM_000314	NP_000305	89720799	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	9	1981_1984	+	-	-		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Frame_Shift_Del	317_318			C2 tensin-type.			
PTEN	5728	broad.mit.edu	GRCh37	10	89720831	89720831	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-06-5412-01	TCGA-06-5412-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.982del	p.Ala328GlnfsTer16	p.A328Qfs*16	ENST00000371953	NM_000314.4	328	Gca/ca	0			1			-	A/X	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	982/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.G165_K342del(1)|p.A328fs*15(1)|p.W274_F341del(1)|p.A328fs*1(1)|p.D326_K342del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(982-984)GCAfs			Low_complexity_(Seg):seg,PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Gene3D:1d5rA02,Pfam_domain:PF10409,PIRSF_domain:PIRSF038025,Superfamily_domains:SSF49562	phosphatase and tensin homolog				ENSP00000361021		9-Aug										9-Aug	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89720831delG	9588			HIGH								--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																																1			p.A328fs	NM_000314	NP_000305				PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		9	2013	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	328	KANKDKANR->AAGADAANA: Reduces growth suppression activity and promotes anchorage-independent growth. Reduces binding to phospholipid membranes in vitro; phosphatase activity towards PtdIns(3,4,5)P3 is not affected.		C2 tensin-type.		deletion	PTEN,frameshift_variant,p.Ala328GlnfsTer16,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000472832,;	uc001kfb.2	c.982delG	2339/9027	5	5		31	c.982delG	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	DEL	c.(982-984)GCAfs	16	16		p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.G165_K342del(1)|p.A328fs*15(1)|p.W274_F341del(1)|p.A328fs*1(1)|p.D326_K342del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89720831	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.333	ENSG00000171862	12528	g.chr10:89720831delG	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264														0.19	1	1	0	1	0	0	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	-				95	GBM-06-5412-TP	p.A328fs	G	TCTTGACAAAGCAAATAAAGA	NM_000314	NP_000305	89720831	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	9	2013	+	-	-		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Frame_Shift_Del	328	KANKDKANR->AAGADAANA: Reduces growth suppression activity and promotes anchorage-independent growth. Reduces binding to phospholipid membranes in vitro; phosphatase activity towards PtdIns(3,4,5)P3 is not affected.		C2 tensin-type.			
PTEN	5728	broad.mit.edu	GRCh37	10	89711993	89711993	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.611C>T	p.Pro204Leu	p.P204L	ENST00000371953	NM_000314.4	204	cCa/cTa	0			1			T	P/L	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	611/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.R55fs*1(4)|p.?(3)|p.G165fs*9(3)|p.P204T(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)|p.P204S(1)|p.P204fs*17(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(610-612)CCA>CTA			PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Gene3D:1d5rA02,Pfam_domain:PF10409,PIRSF_domain:PIRSF038025,Superfamily_domains:SSF49562	phosphatase and tensin homolog				ENSP00000361021		9-Jun									COSM1577256	9-Jun	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89711993C>T	9588			MODERATE		2.415	medium	getma.org/?cm=msa&ty=f&p=PTEN_HUMAN&rb=188&re=349&var=P204L	getma.org/pdb.php?prot=PTEN_HUMAN&from=188&to=349&var=P204L	getma.org/?cm=var&var=hg19,10,89711993,C,T&fts=all	P204L	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1	1		possibly_damaging(0.706)	p.P204L	NM_000314	NP_000305		deleterious(0.04)	1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		7	1642	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	204			C2 tensin-type.		SNV	PTEN,missense_variant,p.Pro204Leu,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000472832,;	uc001kfb.2	c.611C>T	1968/9027	2	2		31	c.611C>T	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(610-612)CCA>CTA	20	20		p.R55fs*1(4)|p.?(3)|p.G165fs*9(3)|p.P204T(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)|p.P204S(1)|p.P204fs*17(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89711993	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.358	ENSG00000171862	12528	g.chr10:89711993C>T	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		p.P204L(GCT-Tumor)	264		p.P204L(GCT-Tumor)	264	353.907499	KEEP	58	67	-1	63	51	58	67	-1	354.184843	63	51	0.54	1	0	0	0	0	1	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	T				100	GBM-06-5418-TP	p.P204L	C	GAAACTATTCCAATGTTCAGT	NM_000314	NP_000305	89711993	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	1642	+	T	T		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Missense_Mutation	204			C2 tensin-type.			
PTEN	5728	broad.mit.edu	GRCh37	10	89717672	89717672	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs121909219		TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.697C>T	p.Arg233Ter	p.R233*	ENST00000371953	NM_000314.4	233	Cga/Tga	0			1			T	R/*	uc001kfb.2	protein_coding	YES	CCDS31238.1	R233*(JHUEM1_ENDOMETRIUM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(HEC59_ENDOMETRIUM)	31	697/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	pathogenic		p.R233*(61)|p.R233fs*10(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)|p.G165_K342del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(697-699)CGA>TGA			PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Gene3D:1d5rA02,Pfam_domain:PF10409,PIRSF_domain:PIRSF038025,Superfamily_domains:SSF49562	phosphatase and tensin homolog				ENSP00000361021		9-Jul									rs121909219,COSM5154	9-Jul	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89717672C>T	9588			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,10,89717672,C,T&fts=all	R233*	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1,1	1			p.R233*	NM_000314	NP_000305			0,1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		8	1728	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	233			C2 tensin-type.		SNV	PTEN,stop_gained,p.Arg233Ter,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000472832,;	uc001kfb.2	c.697C>T	2054/9027	5	1	R233*(JHUEM1_ENDOMETRIUM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(HEC59_ENDOMETRIUM)	31	c.697C>T	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(697-699)CGA>TGA	3	3		p.R233*(61)|p.R233fs*10(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)|p.G165_K342del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89717672	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.423	ENSG00000171862	12528	g.chr10:89717672C>T	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		p.R233*(JHUEM1-Tumor)|p.R233*(SW1783-Tumor)|p.R233*(SF295-Tumor)|p.T232fs(P31FUJ-Tumor)	264		p.R233*(JHUEM1-Tumor)|p.R233*(SW1783-Tumor)|p.R233*(SF295-Tumor)|p.T232fs(P31FUJ-Tumor)	264	317.380933	KEEP	50	58	-1	17	17	50	58	-1	325.091918	17	17	0.76	1	0	0	0	0	0	1	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	T				102	GBM-06-5858-TP	p.R233*	C	AGGACCCACACGACGGGAAGA	NM_000314	NP_000305	89717672	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	1728	+	T	T		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Nonsense_Mutation	233			C2 tensin-type.			
PTEN	0	broad.mit.edu	GRCh37	10	89653779	89653780	+	splice_region_variant,intron_variant	Splice_Region	INS	-	-	AGAT			TCGA-12-0618-01	TCGA-12-0618-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.80-1_82dupGATA	p.Ile28ArgfsTer17	p.I28Rfs*17	ENST00000371953	NM_000314.4			0			1			AGAT		uc001kfb.2	protein_coding	YES	CCDS31238.1		31	-/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial				endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.e3-2				phosphatase and tensin homolog				ENSP00000361021													.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89653779_89653780insAGAT	9588	5		LOW	8-Jan							--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																																1			p.Y27_splice	NM_000314	NP_000305				PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		3	1111	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5						insertion	PTEN,splice_region_variant,p.Ile28ArgfsTer17,ENST00000371953,NM_000314.4;PTEN,splice_region_variant,,ENST00000462694,;	uc001kfb.2	c.80_splice	-/9027	5	5		31	c.80_splice	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	INS	c.e3-2	47	47			endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89653780	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.312	ENSG00000171862	12528	g.chr10:89653779_89653780insAGAT	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264														0.8	1	0	0	1	1	0	0	0	1	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	AGAT				119	GBM-12-0618-TP	p.Y27_splice	-	CTAAAGTACTCAGATATTTATC	NM_000314	NP_000305	89653779	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	3	1111	+	AGAT	AGAT		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Splice_Site							
PTEN	0	broad.mit.edu	GRCh37	10	89717704	89717704	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-12-1597-01	TCGA-12-1597-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.731delC	p.Pro244LeufsTer12	p.P244Lfs*12	ENST00000371953	NM_000314.4	243	ttC/tt	0			1			-	F/X	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	729/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.F243fs*9(1)|p.R234fs*9(1)|p.F243S(1)|p.F243fs*13(1)|p.G165_K342del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(727-729)TTCfs			PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Gene3D:1d5rA02,Pfam_domain:PF10409,PIRSF_domain:PIRSF038025,Superfamily_domains:SSF49562	phosphatase and tensin homolog				ENSP00000361021		9-Jul										9-Jul	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89717704delC	9588	2		HIGH								--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																																1			p.F243fs	NM_000314	NP_000305				PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		8	1760	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	243			C2 tensin-type.		deletion	PTEN,frameshift_variant,p.Pro244LeufsTer12,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000472832,;	uc001kfb.2	c.729delC	2086/9027	5	5		31	c.729delC	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	DEL	c.(727-729)TTCfs	53	53		p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.F243fs*9(1)|p.R234fs*9(1)|p.F243S(1)|p.F243fs*13(1)|p.G165_K342del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89717704	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.423	ENSG00000171862	12528	g.chr10:89717704delC	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264														0.7	1	1	0	1	0	0	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	-				124	GBM-12-1597-TP	p.F243fs	C	ACTTTGAGTTCCCTCAGCCGT	NM_000314	NP_000305	89717704	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	1760	+	-	-		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Frame_Shift_Del	243			C2 tensin-type.			
PTEN	0	broad.mit.edu	GRCh37	10	89711928	89711928	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-14-1395-01	TCGA-14-1395-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.548delA	p.Lys183ArgfsTer16	p.K183Rfs*16	ENST00000371953	NM_000314.4	182	ttA/tt	0			1			-	L/X	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	546/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.R55fs*1(4)|p.V166fs*17(3)|p.?(3)|p.G165fs*9(3)|p.L182fs*16(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)|p.K183fs*7(1)|p.L182F(1)|p.V175fs*3(1)|p.L182*(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(544-546)TTAfs			PROSITE_profiles:PS51181,hmmpanther:PTHR12305,Gene3D:3.90.190.10,PIRSF_domain:PIRSF038025,SMART_domains:SM00404,Superfamily_domains:SSF52799	phosphatase and tensin homolog				ENSP00000361021		9-Jun										9-Jun	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89711928delA	9588	2		HIGH								--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																																1			p.L182fs	NM_000314	NP_000305				PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		7	1577	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	182			Phosphatase tensin-type.		deletion	PTEN,frameshift_variant,p.Lys183ArgfsTer16,ENST00000371953,NM_000314.4;PTEN,upstream_gene_variant,,ENST00000472832,;	uc001kfb.2	c.546delA	1903/9027	5	5		31	c.546delA	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	DEL	c.(544-546)TTAfs	3	3		p.R55fs*1(4)|p.V166fs*17(3)|p.?(3)|p.G165fs*9(3)|p.L182fs*16(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)|p.K183fs*7(1)|p.L182F(1)|p.V175fs*3(1)|p.L182*(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89711928	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.388	ENSG00000171862	12528	g.chr10:89711928delA	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264														0.93	1	1	0	1	0	0	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	-				144	GBM-14-1395-TP	p.L182fs	A	GCTACCTGTTAAAGAATCATC	NM_000314	NP_000305	89711928	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	1577	+	-	-		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Frame_Shift_Del	182			Phosphatase tensin-type.			
PTEN	0	broad.mit.edu	GRCh37	10	89690846	89690846	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T			TCGA-16-0846-01	TCGA-16-0846-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.253G>T	p.Val85Phe	p.V85F	ENST00000371953	NM_000314.4	85	Gtt/Ttt	0			1			T	V/F	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	253/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.R55fs*1(4)|p.?(3)|p.V85A(2)|p.C71fs*6(2)|p.L70fs*7(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.V85G(1)|p.N82_P95del(1)|p.F56fs*2(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(253-255)GTT>TTT			PROSITE_profiles:PS51181,hmmpanther:PTHR12305,Gene3D:3.90.190.10,Pfam_domain:PF00782,PIRSF_domain:PIRSF038025,SMART_domains:SM00404,Superfamily_domains:SSF52799	phosphatase and tensin homolog				ENSP00000361021		9-Apr									COSM3397285	9-Apr	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89690846G>T	9588			MODERATE		2.925	medium	getma.org/?cm=msa&ty=f&p=PTEN_HUMAN&rb=47&re=175&var=V85F	getma.org/pdb.php?prot=PTEN_HUMAN&from=47&to=175&var=V85F	getma.org/?cm=var&var=hg19,10,89690846,G,T&fts=all	V85F	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1	1		probably_damaging(0.927)	p.V85F	NM_000314	NP_000305		deleterious(0.01)	1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		5	1284	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	85			Phosphatase tensin-type.		SNV	PTEN,missense_variant,p.Val85Phe,ENST00000371953,NM_000314.4;PTEN,splice_region_variant,,ENST00000498703,;	uc001kfb.2	c.253G>T	1610/9027	2	2		31	c.253G>T	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(253-255)GTT>TTT	48	48		p.R55fs*1(4)|p.?(3)|p.V85A(2)|p.C71fs*6(2)|p.L70fs*7(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.V85G(1)|p.N82_P95del(1)|p.F56fs*2(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89690846	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.318	ENSG00000171862	12528	g.chr10:89690846G>T	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		(NCIH446-Tumor)	264		(NCIH446-Tumor)	264	89.506171	KEEP	16	16	0.5	6	14	16	16	0.5	89.882125	6	14	0.595745	1	0	0	0	0	1	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	T				155	GBM-16-0846-TP	p.V85F	G	TAATTGCAGAGGTAGGTATGA	NM_000314	NP_000305	89690846	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1284	+	T	T		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Missense_Mutation	85			Phosphatase tensin-type.			
PTEN	0	broad.mit.edu	GRCh37	10	89685315	89685318	+	splice_donor_variant,intron_variant	Splice_Site	DEL	GTAA	GTAA	-			TCGA-16-0861-01	TCGA-16-0861-01	GTAA	GTAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.209+4_209+7delAGTA		p.X70_splice	ENST00000371953	NM_000314.4			0			1			-		uc001kfb.2	protein_coding	YES	CCDS31238.1		31	209/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.?(15)|p.R55fs*1(4)|p.L70fs*7(2)|p.Y27fs*1(2)|p.F56fs*2(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.e4+1				phosphatase and tensin homolog				ENSP00000361021											COSM921074,COSM5979		.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89685315_89685318delGTAA	9588	3		HIGH	8-Mar							--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1,1	1			p.L70_splice	NM_000314	NP_000305			1,1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		4	1240	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5						deletion	PTEN,splice_donor_variant,,ENST00000371953,NM_000314.4;PTEN,splice_donor_variant,,ENST00000498703,;	uc001kfb.2	c.209_splice	-/9027	5	5		31	c.209_splice	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	DEL	c.e4+1	3	3		p.?(15)|p.R55fs*1(4)|p.L70fs*7(2)|p.Y27fs*1(2)|p.F56fs*2(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89685318	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.275	ENSG00000171862	12528	g.chr10:89685315_89685318delGTAA	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		(U87MG-Tumor)|(SNU1040-Tumor)|(YKG1-Tumor)	264		(U87MG-Tumor)|(SNU1040-Tumor)|(YKG1-Tumor)	264														0.58	1	1	0	1	0	0	0	0	1	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	-				156	GBM-16-0861-TP	p.L70_splice	GTAA	TATACAATCTGTAAGTATGTTTTC	NM_000314	NP_000305	89685315	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1240	+	-	-		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Splice_Site							
PTEN	0	broad.mit.edu	GRCh37	10	89692911	89692911	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs121909241		TCGA-19-5952-01	TCGA-19-5952-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.395G>A	p.Gly132Asp	p.G132D	ENST00000371953	NM_000314.4	132	gGt/gAt	0			1			A	G/D	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	395/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	uncertain_significance,pathogenic		p.G132D(5)|p.R55fs*1(4)|p.?(2)|p.G132S(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G132V(1)|p.K128fs*47(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.G132fs*2(1)|p.G132R(1)|p.T131fs*42(1)|p.F56fs*2(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(394-396)GGT>GAT			PROSITE_profiles:PS51181,hmmpanther:PTHR12305,PROSITE_patterns:PS00383,Gene3D:3.90.190.10,Pfam_domain:PF00782,PIRSF_domain:PIRSF038025,SMART_domains:SM00404,Superfamily_domains:SSF52799	phosphatase and tensin homolog				ENSP00000361021		9-May									rs121909241,COSM5123	9-May	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89692911G>A	9588			MODERATE		4.405	high	getma.org/?cm=msa&ty=f&p=PTEN_HUMAN&rb=47&re=175&var=G132D	getma.org/pdb.php?prot=PTEN_HUMAN&from=47&to=175&var=G132D	getma.org/?cm=var&var=hg19,10,89692911,G,A&fts=all	G132D	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1,1	1		probably_damaging(0.96)	p.G132D	NM_000314	NP_000305		deleterious(0.03)	0,1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		6	1426	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	132		G -> V (in one patient with clinical findings suggesting hamartoma tumor syndrome).	Phosphatase tensin-type.		SNV	PTEN,missense_variant,p.Gly132Asp,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000498703,;	uc001kfb.2	c.395G>A	1752/9027	1	1		31	c.395G>A	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(394-396)GGT>GAT	61	61		p.G132D(5)|p.R55fs*1(4)|p.?(2)|p.G132S(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G132V(1)|p.K128fs*47(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.G132fs*2(1)|p.G132R(1)|p.T131fs*42(1)|p.F56fs*2(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89692911	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.398	ENSG00000171862	12528	g.chr10:89692911G>A	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264	191.379954	KEEP	30	33	-1	29	34	30	33	-1	191.386919	29	34	0.508475	1	0	0	0	0	1	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	A				172	GBM-19-5952-TP	p.G132D	G	GGACGAACTGGTGTAATGATA	NM_000314	NP_000305	89692911	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1426	+	A	A		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Missense_Mutation	132		G -> V (in one patient with clinical findings suggesting hamartoma tumor syndrome).	Phosphatase tensin-type.			
PTEN	0	broad.mit.edu	GRCh37	10	89725130	89725130	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-19-5955-01	TCGA-19-5955-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.1113delC	p.Asp371GlufsTer45	p.D371Efs*45	ENST00000371953	NM_000314.4	371	gaC/ga	0			1			-	D/X	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	1113/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.R55fs*1(4)|p.Y27fs*1(2)|p.N212fs*1(2)|p.G165_*404del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(1111-1113)GACfs			Low_complexity_(Seg):seg,hmmpanther:PTHR12305,PIRSF_domain:PIRSF038025	phosphatase and tensin homolog				ENSP00000361021		9-Sep									COSM2156793	9-Sep	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89725130delC	9588			HIGH								--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1	1			p.D371fs	NM_000314	NP_000305			1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		10	2144	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	371					deletion	PTEN,frameshift_variant,p.Asp371GlufsTer45,ENST00000371953,NM_000314.4;PTEN,downstream_gene_variant,,ENST00000472832,;	uc001kfb.2	c.1113delC	2470/9027	5	5		31	c.1113delC	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	DEL	c.(1111-1113)GACfs	47	47		p.R55fs*1(4)|p.Y27fs*1(2)|p.N212fs*1(2)|p.G165_*404del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89725130	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.388	ENSG00000171862	12528	g.chr10:89725130delC	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264														0.3	1	1	0	1	0	0	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	-				175	GBM-19-5955-TP	p.D371fs	C	ATGTTAGTGACAATGAACCTG	NM_000314	NP_000305	89725130	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	10	2144	+	-	-		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Frame_Shift_Del	371						
PTEN	0	broad.mit.edu	GRCh37	10	89692810	89692810	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-19-5959-01	TCGA-19-5959-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.294delA	p.Glu99AsnfsTer14	p.E99Nfs*14	ENST00000371953	NM_000314.4	98	ctA/ct	0			1			-	L/X	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	294/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.R55fs*1(4)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.H93fs*5(1)|p.F56fs*2(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(292-294)CTAfs			PROSITE_profiles:PS51181,hmmpanther:PTHR12305,Gene3D:3.90.190.10,Pfam_domain:PF00782,PIRSF_domain:PIRSF038025,SMART_domains:SM00404,Superfamily_domains:SSF52799	phosphatase and tensin homolog				ENSP00000361021		9-May										9-May	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89692810delA	9588			HIGH								--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																																1			p.L98fs	NM_000314	NP_000305				PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		6	1325	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	98			Phosphatase tensin-type.		deletion	PTEN,frameshift_variant,p.Glu99AsnfsTer14,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000498703,;	uc001kfb.2	c.294delA	1651/9027	5	5		31	c.294delA	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	DEL	c.(292-294)CTAfs	61	61		p.R55fs*1(4)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.H93fs*5(1)|p.F56fs*2(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89692810	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.358	ENSG00000171862	12528	g.chr10:89692810delA	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264														0.75	1	1	0	1	0	0	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	-				177	GBM-19-5959-TP	p.L98fs	A	CACCACAGCTAGAACTTATCA	NM_000314	NP_000305	89692810	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1325	+	-	-		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Frame_Shift_Del	98			Phosphatase tensin-type.			
PTEN	0	broad.mit.edu	GRCh37	10	89720650	89720650	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A			TCGA-26-5132-01	TCGA-26-5132-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.802-1G>A		p.X268_splice	ENST00000371953	NM_000314.4			0			1			A		uc001kfb.2	protein_coding	YES	CCDS31238.1		31	802/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.R55fs*1(4)|p.?(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.M264fs*8(2)|p.G165_*404del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.e9-1				phosphatase and tensin homolog				ENSP00000361021											COSM28919		.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89720650G>A	9588			HIGH	8-Jul							--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1	1			p.D268_splice	NM_000314	NP_000305			1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		9	1833	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5						SNV	PTEN,splice_acceptor_variant,,ENST00000371953,NM_000314.4;PTEN,splice_acceptor_variant,,ENST00000472832,;	uc001kfb.2	c.802_splice	-/9027	5	2		31	c.802_splice	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.e9-1	28	28		p.R55fs*1(4)|p.?(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.M264fs*8(2)|p.G165_*404del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89720650	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.239	ENSG00000171862	12528	g.chr10:89720650G>A	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264	82.014863	KEEP	13	16	-1	2	6	13	16	-1	84.524963	2	6	0.8	1	0	0	0	0	0	0	0	1	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	A				181	GBM-26-5132-TP	p.D268_splice	G	tttttttttAGGACAAAATGT	NM_000314	NP_000305	89720650	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	9	1833	+	A	A		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Splice_Site							
PTEN	0	broad.mit.edu	GRCh37	10	89711915	89711915	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-26-6174-01	TCGA-26-6174-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.533A>G	p.Tyr178Cys	p.Y178C	ENST00000371953	NM_000314.4	178	tAt/tGt	0			1			G	Y/C	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	533/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.R55fs*1(4)|p.V166fs*17(3)|p.?(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.Y178*(1)|p.G165_K342del(1)|p.Y177fs*1(1)|p.G165_*404del(1)|p.V175fs*3(1)|p.Y178fs*5(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(532-534)TAT>TGT			PROSITE_profiles:PS51181,hmmpanther:PTHR12305,Gene3D:3.90.190.10,PIRSF_domain:PIRSF038025,SMART_domains:SM00404,Superfamily_domains:SSF52799	phosphatase and tensin homolog				ENSP00000361021		9-Jun									COSM3397288	9-Jun	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89711915A>G	9588			MODERATE		2.96	medium	getma.org/?cm=msa&ty=f&p=PTEN_HUMAN&rb=14&re=185&var=Y178C	getma.org/pdb.php?prot=PTEN_HUMAN&from=14&to=185&var=Y178C	getma.org/?cm=var&var=hg19,10,89711915,A,G&fts=all	Y178C	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1	1		benign(0.288)	p.Y178C	NM_000314	NP_000305		deleterious(0.01)	1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		7	1564	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	178			Phosphatase tensin-type.		SNV	PTEN,missense_variant,p.Tyr178Cys,ENST00000371953,NM_000314.4;PTEN,upstream_gene_variant,,ENST00000472832,;	uc001kfb.2	c.533A>G	1890/9027	4	4		31	c.533A>G	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(532-534)TAT>TGT	27	27		p.R55fs*1(4)|p.V166fs*17(3)|p.?(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.Y178*(1)|p.G165_K342del(1)|p.Y177fs*1(1)|p.G165_*404del(1)|p.V175fs*3(1)|p.Y178fs*5(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89711915	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.368	ENSG00000171862	12528	g.chr10:89711915A>G	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264	226.400346	KEEP	38	29	-1	41	35	38	29	-1	226.426385	41	35	0.484848	1	0	0	0	0	1	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	G				188	GBM-26-6174-TP	p.Y178C	A	GTGTATTATTATAGCTACCTG	NM_000314	NP_000305	89711915	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	1564	+	G	G		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Missense_Mutation	178			Phosphatase tensin-type.			
PTEN	0	broad.mit.edu	GRCh37	10	89720676	89720676	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-27-1834-01	TCGA-27-1834-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.827A>G	p.Asn276Ser	p.N276S	ENST00000371953	NM_000314.4	276	aAt/aGt	0			1			G	N/S	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	827/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.N276fs*15(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.W274_F341del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(826-828)AAT>AGT			PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Gene3D:1d5rA02,Pfam_domain:PF10409,PIRSF_domain:PIRSF038025,Superfamily_domains:SSF49562	phosphatase and tensin homolog				ENSP00000361021		9-Aug									COSM1968266	9-Aug	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89720676A>G	9588			MODERATE		2.8	medium	getma.org/?cm=msa&ty=f&p=PTEN_HUMAN&rb=188&re=349&var=N276S	getma.org/pdb.php?prot=PTEN_HUMAN&from=188&to=349&var=N276S	getma.org/?cm=var&var=hg19,10,89720676,A,G&fts=all	N276S	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1	1		probably_damaging(0.996)	p.N276S	NM_000314	NP_000305		deleterious(0)	1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		9	1858	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	276			C2 tensin-type.		SNV	PTEN,missense_variant,p.Asn276Ser,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000472832,;	uc001kfb.2	c.827A>G	2184/9027	3	3		31	c.827A>G	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(826-828)AAT>AGT	1	1		p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.N276fs*15(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.W274_F341del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89720676	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.254	ENSG00000171862	12528	g.chr10:89720676A>G	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264	90.775405	KEEP	11	16	-1	16	15	11	16	-1	90.779637	16	15	0.490196	1	0	0	0	0	1	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	G				193	GBM-27-1834-TP	p.N276S	A	TTTTGGGTAAATACATTCTTC	NM_000314	NP_000305	89720676	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	9	1858	+	G	G		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Missense_Mutation	276			C2 tensin-type.			
PTEN	0	broad.mit.edu	GRCh37	10	89720679	89720679	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1837-01	TCGA-27-1837-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.830C>T	p.Thr277Ile	p.T277I	ENST00000371953	NM_000314.4	277	aCa/aTa	0			1			T	T/I	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	830/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	uncertain_significance		p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.T277I(1)|p.W274_F341del(1)|p.T277fs*13(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(829-831)ACA>ATA			PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Gene3D:1d5rA02,Pfam_domain:PF10409,PIRSF_domain:PIRSF038025,Superfamily_domains:SSF49562	phosphatase and tensin homolog				ENSP00000361021		9-Aug									rs398123329,COSM35645	9-Aug	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89720679C>T	9588			MODERATE		2.85	medium	getma.org/?cm=msa&ty=f&p=PTEN_HUMAN&rb=188&re=349&var=T277I	getma.org/pdb.php?prot=PTEN_HUMAN&from=188&to=349&var=T277I	getma.org/?cm=var&var=hg19,10,89720679,C,T&fts=all	T277I	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1,1	1		probably_damaging(0.929)	p.T277I	NM_000314	NP_000305		deleterious(0)	0,1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		9	1861	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	277			C2 tensin-type.		SNV	PTEN,missense_variant,p.Thr277Ile,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000472832,;	uc001kfb.2	c.830C>T	2187/9027	1	1		31	c.830C>T	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(829-831)ACA>ATA	16	16		p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.T277I(1)|p.W274_F341del(1)|p.T277fs*13(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89720679	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.259	ENSG00000171862	12528	g.chr10:89720679C>T	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264	56.331501	KEEP	11	11	-1	2	9	11	11	-1	57.579219	2	9	0.730769	1	0	0	0	0	1	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	T				196	GBM-27-1837-TP	p.T277I	C	TGGGTAAATACATTCTTCATA	NM_000314	NP_000305	89720679	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	9	1861	+	T	T		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Missense_Mutation	277			C2 tensin-type.			
PTEN	0	broad.mit.edu	GRCh37	10	89720670	89720671	+	missense_variant	Missense_Mutation	DNP	GG	GG	CT			TCGA-27-1838-01	TCGA-27-1838-01	GG	GG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.821_822delGGinsCT	p.Trp274Ser	p.W274S	ENST00000371953	NM_000314.4	274	tGG/tCT	0			1			CT	W/S	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	821-822/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.W274*(6)|p.R55fs*1(4)|p.?(2)|p.W274fs*2(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.G165_*404del(1)|p.W274G(1)|p.W274_F341del(1)|p.W274R(1)|p.G165_K342del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(820-822)TGG>TCT			PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Gene3D:1d5rA02,Pfam_domain:PF10409,PIRSF_domain:PIRSF038025,Superfamily_domains:SSF49562	phosphatase and tensin homolog				ENSP00000361021		9-Aug										9-Aug	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89720670_89720671GG>CT	9588			MODERATE								--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																																1		probably_damaging(0.994)	p.W274S	NM_000314	NP_000305		deleterious(0)		PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		9	1852_1853	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	274			C2 tensin-type.		substitution	PTEN,missense_variant,p.Trp274Ser,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000472832,;	uc001kfb.2	c.821_822GG>CT	2178-2179/9027	3	3		31	c.821_822GG>CT	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	DNP	c.(820-822)TGG>TCT	50	50		p.W274*(6)|p.R55fs*1(4)|p.?(2)|p.W274fs*2(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.G165_*404del(1)|p.W274G(1)|p.W274_F341del(1)|p.W274R(1)|p.G165_K342del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89720671	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.243	ENSG00000171862	12528	g.chr10:89720670_89720671GG>CT	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		p.W274*(WM793-Tumor)|p.W274fs(BT549-Tumor)|p.W274*(P12ICHIKAWA-Tumor)	264		p.W274*(WM793-Tumor)|p.W274fs(BT549-Tumor)|p.W274*(P12ICHIKAWA-Tumor)	264	70.835976	KEEP	0	0	-1	0	0	0	0	-1	71.837721	0	0	0.703704	1	0	0	0	0	1	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	CT				197	GBM-27-1838-TP	p.W274S	GG	TTTCACTTTTGGGTAAATACAT	NM_000314	NP_000305	89720670	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	9	1852_1853	+	CT	CT		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Missense_Mutation	274			C2 tensin-type.			
PTEN	0	broad.mit.edu	GRCh37	10	89711899	89711899	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121913293		TCGA-27-2519-01	TCGA-27-2519-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.517C>T	p.Arg173Cys	p.R173C	ENST00000371953	NM_000314.4	173	Cgc/Tgc	0			1			T	R/C	uc001kfb.2	protein_coding	YES	CCDS31238.1	R173C(REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	31	517/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	pathogenic		p.R173C(32)|p.R173H(22)|p.R55fs*1(4)|p.V166fs*17(3)|p.?(3)|p.G165fs*9(3)|p.R173fs*10(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)|p.R173R(1)|p.R173P(1)|p.R172fs*5(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(517-519)CGC>TGC			PROSITE_profiles:PS51181,hmmpanther:PTHR12305,Gene3D:3.90.190.10,PIRSF_domain:PIRSF038025,SMART_domains:SM00404,Superfamily_domains:SSF52799	phosphatase and tensin homolog				ENSP00000361021		9-Jun									rs121913293,COSM5089	9-Jun	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89711899C>T	9588			MODERATE		3.8	high	getma.org/?cm=msa&ty=f&p=PTEN_HUMAN&rb=47&re=175&var=R173C	getma.org/pdb.php?prot=PTEN_HUMAN&from=47&to=175&var=R173C	getma.org/?cm=var&var=hg19,10,89711899,C,T&fts=all	R173C	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1,1	1		probably_damaging(0.913)	p.R173C	NM_000314	NP_000305		deleterious(0.02)	0,1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		7	1548	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	173		R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		SNV	PTEN,missense_variant,p.Arg173Cys,ENST00000371953,NM_000314.4;PTEN,upstream_gene_variant,,ENST00000472832,;	uc001kfb.2	c.517C>T	1874/9027	1	1	R173C(REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	31	c.517C>T	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(517-519)CGC>TGC	4	4		p.R173C(32)|p.R173H(22)|p.R55fs*1(4)|p.V166fs*17(3)|p.?(3)|p.G165fs*9(3)|p.R173fs*10(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)|p.R173R(1)|p.R173P(1)|p.R172fs*5(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89711899	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.348	ENSG00000171862	12528	g.chr10:89711899C>T	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		p.R173C(REH-Tumor)|p.R173C(639V-Tumor)	264		p.R173C(REH-Tumor)|p.R173C(639V-Tumor)	264	272.562012	KEEP	61	48	-1	50	69	61	48	-1	272.673714	50	69	0.473684	1	0	0	0	0	1	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	T				199	GBM-27-2519-TP	p.R173C	C	CAGTCAGAGGCGCTATGTGTA	NM_000314	NP_000305	89711899	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	1548	+	T	T		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Missense_Mutation	173		R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.			
PTEN	0	broad.mit.edu	GRCh37	10	89720857	89720857	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-28-1753-01	TCGA-28-1753-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.1008C>A	p.Tyr336Ter	p.Y336*	ENST00000371953	NM_000314.4	336	taC/taA	0			1			A	Y/*	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	1008/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.R55fs*1(4)|p.Y336*(3)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.Y336F(1)|p.G165_*404del(1)|p.G165_K342del(1)|p.R335fs*4(1)|p.W274_F341del(1)|p.D326_K342del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(1006-1008)TAC>TAA			PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Gene3D:1d5rA02,Pfam_domain:PF10409,PIRSF_domain:PIRSF038025,Superfamily_domains:SSF49562	phosphatase and tensin homolog				ENSP00000361021		9-Aug									COSM5300	9-Aug	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89720857C>A	9588			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,10,89720857,C,A&fts=all	Y336*	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1	1			p.Y336*	NM_000314	NP_000305			1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		9	2039	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	336	Y->F: Significantly lower phosphatase activity, reduced protein stability and decreased growth-inhibitory effect.		C2 tensin-type.		SNV	PTEN,stop_gained,p.Tyr336Ter,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000472832,;	uc001kfb.2	c.1008C>A	2365/9027	5	1		31	c.1008C>A	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(1006-1008)TAC>TAA	49	49		p.R55fs*1(4)|p.Y336*(3)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.Y336F(1)|p.G165_*404del(1)|p.G165_K342del(1)|p.R335fs*4(1)|p.W274_F341del(1)|p.D326_K342del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89720857	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.333	ENSG00000171862	12528	g.chr10:89720857C>A	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264	123.417112	KEEP	27	24	0.470588235	44	42	27	24	0.470588235	124.676055	44	42	0.385321	1	0	0	0	0	0	1	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	A				207	GBM-28-1753-TP	p.Y336*	C	CCAACCGATACTTTTCTCCAA	NM_000314	NP_000305	89720857	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	9	2039	+	A	A		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Nonsense_Mutation	336	Y->F: Significantly lower phosphatase activity, reduced protein stability and decreased growth-inhibitory effect.		C2 tensin-type.			
PTEN	0	broad.mit.edu	GRCh37	10	89717695	89717696	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-28-5209-01	TCGA-28-5209-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.723dupT	p.Glu242Ter	p.E242*	ENST00000371953	NM_000314.4	240	-/T	0			1			T	-/X	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	720-721/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.F241L(1)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.F241fs*1(1)|p.R234fs*9(1)|p.K237_Y240>N(1)|p.F241fs*17(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(718-723)TACTTTfs			PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Gene3D:1d5rA02,Pfam_domain:PF10409,PIRSF_domain:PIRSF038025,Superfamily_domains:SSF49562	phosphatase and tensin homolog				ENSP00000361021		9-Jul										9-Jul	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89717695_89717696insT	9588	3		HIGH								--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																																1			p.Y240fs	NM_000314	NP_000305				PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		8	1751_1752	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	240_241		F -> S (in MCEPHAS).	C2 tensin-type.		insertion	PTEN,frameshift_variant,p.Glu242Ter,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000472832,;	uc001kfb.2	c.720_721insT	2077-2078/9027	5	5		31	c.720_721insT	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	INS	c.(718-723)TACTTTfs	64	64		p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.F241L(1)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.F241fs*1(1)|p.R234fs*9(1)|p.K237_Y240>N(1)|p.F241fs*17(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89717696	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.411	ENSG00000171862	12528	g.chr10:89717695_89717696insT	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		p.F241L(SNU449-Tumor)	264		p.F241L(SNU449-Tumor)	264														0.76	1	0	0	1	1	0	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	T				218	GBM-28-5209-TP	p.Y240fs	-	AGTTCATGTACTTTGAGTTCCC	NM_000314	NP_000305	89717695	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	1751_1752	+	T	T		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Frame_Shift_Ins	240_241		F -> S (in MCEPHAS).	C2 tensin-type.			
PTEN	0	broad.mit.edu	GRCh37	10	89653808	89653808	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01	TCGA-32-1977-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.106G>A	p.Gly36Arg	p.G36R	ENST00000371953	NM_000314.4	36	Gga/Aga	0			1			A	G/R	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	106/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.?(4)|p.G36E(4)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G36V(2)|p.G36*(1)|p.A34_G36del(1)|p.G36R(1)|p.G36fs*18(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(106-108)GGA>AGA			PROSITE_profiles:PS51181,hmmpanther:PTHR12305,Gene3D:3.90.190.10,PIRSF_domain:PIRSF038025,SMART_domains:SM00404,Superfamily_domains:SSF52799	phosphatase and tensin homolog				ENSP00000361021		9-Feb									COSM5135	9-Feb	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89653808G>A	9588			MODERATE		3.68	high	getma.org/?cm=msa&ty=f&p=PTEN_HUMAN&rb=14&re=185&var=G36R	getma.org/pdb.php?prot=PTEN_HUMAN&from=14&to=185&var=G36R	getma.org/?cm=var&var=hg19,10,89653808,G,A&fts=all	G36R	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1	1		possibly_damaging(0.813)	p.G36R	NM_000314	NP_000305		deleterious(0.04)	1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		3	1137	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	36		G -> R (in endometrial hyperplasia).|G -> E (in glioma).	Phosphatase tensin-type.		SNV	PTEN,missense_variant,p.Gly36Arg,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000462694,;	uc001kfb.2	c.106G>A	1463/9027	2	2		31	c.106G>A	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(106-108)GGA>AGA	46	46		p.?(4)|p.G36E(4)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G36V(2)|p.G36*(1)|p.A34_G36del(1)|p.G36R(1)|p.G36fs*18(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89653808	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.284	ENSG00000171862	12528	g.chr10:89653808G>A	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264	76.662177	KEEP	19	14	-1	56	50	19	14	-1	83.367463	56	50	0.245614	1	0	0	0	0	1	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	A				229	GBM-32-1977-TP	p.G36R	G	TATTGCTATGGGATTTCCTGC	NM_000314	NP_000305	89653808	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	3	1137	+	A	A		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Missense_Mutation	36		G -> R (in endometrial hyperplasia).|G -> E (in glioma).	Phosphatase tensin-type.			
PTEN	0	broad.mit.edu	GRCh37	10	89692829	89692829	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-1982-01	TCGA-32-1982-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.313T>C	p.Cys105Arg	p.C105R	ENST00000371953	NM_000314.4	105	Tgt/Cgt	0			1			C	C/R	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	313/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.C105F(6)|p.R55fs*1(4)|p.C105W(4)|p.C105S(3)|p.?(2)|p.Y27fs*1(2)|p.C105Y(2)|p.Y27_N212>Y(2)|p.C105fs*1(1)|p.C105fs*2(1)|p.C105G(1)|p.C105R(1)|p.F56fs*2(1)|p.P103fs*3(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(313-315)TGT>CGT			PROSITE_profiles:PS51181,hmmpanther:PTHR12305,Gene3D:3.90.190.10,Pfam_domain:PF00782,PIRSF_domain:PIRSF038025,SMART_domains:SM00404,Superfamily_domains:SSF52799	phosphatase and tensin homolog				ENSP00000361021		9-May									COSM23625	9-May	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89692829T>C	9588			MODERATE		3.21	medium	getma.org/?cm=msa&ty=f&p=PTEN_HUMAN&rb=47&re=175&var=C105R	getma.org/pdb.php?prot=PTEN_HUMAN&from=47&to=175&var=C105R	getma.org/?cm=var&var=hg19,10,89692829,T,C&fts=all	C105R	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1	1		probably_damaging(0.997)	p.C105R	NM_000314	NP_000305		deleterious(0)	1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		6	1344	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	105		C -> F (in BZS; loss of phosphatase activity towards Ins(1,3,4,5)P4).|C -> Y (in BZS).	Phosphatase tensin-type.		SNV	PTEN,missense_variant,p.Cys105Arg,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000498703,;	uc001kfb.2	c.313T>C	1670/9027	3	3		31	c.313T>C	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(313-315)TGT>CGT	55	55		p.C105F(6)|p.R55fs*1(4)|p.C105W(4)|p.C105S(3)|p.?(2)|p.Y27fs*1(2)|p.C105Y(2)|p.Y27_N212>Y(2)|p.C105fs*1(1)|p.C105fs*2(1)|p.C105G(1)|p.C105R(1)|p.F56fs*2(1)|p.P103fs*3(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89692829	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.378	ENSG00000171862	12528	g.chr10:89692829T>C	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264	-4.993224	KEEP	1	4	-1	46	42	1	4	-1	11.78543	46	42	0.060241	1	0	0	0	0	1	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	C				232	GBM-32-1982-TP	p.C105R	T	CAAACCCTTTTGTGAAGATCT	NM_000314	NP_000305	89692829	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1344	+	C	C		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Missense_Mutation	105		C -> F (in BZS; loss of phosphatase activity towards Ins(1,3,4,5)P4).|C -> Y (in BZS).	Phosphatase tensin-type.			
PTEN	0	broad.mit.edu	GRCh37	10	89717636	89717636	+	stop_gained	Nonsense_Mutation	SNP	A	A	T			TCGA-32-1991-01	TCGA-32-1991-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.661A>T	p.Lys221Ter	p.K221*	ENST00000371953	NM_000314.4	221	Aag/Tag	0			1			T	K/*	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	661/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.K221fs*2(1)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.K221*(1)|p.Q214fs*22(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(661-663)AAG>TAG			PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Gene3D:1d5rA02,Pfam_domain:PF10409,PIRSF_domain:PIRSF038025,Superfamily_domains:SSF49562	phosphatase and tensin homolog				ENSP00000361021		9-Jul									COSM86048	9-Jul	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89717636A>T	9588			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,10,89717636,A,T&fts=all	K221*	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1	1			p.K221*	NM_000314	NP_000305			1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		8	1692	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	221			C2 tensin-type.		SNV	PTEN,stop_gained,p.Lys221Ter,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000472832,;	uc001kfb.2	c.661A>T	2018/9027	5	1		31	c.661A>T	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(661-663)AAG>TAG	14	14		p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.K221fs*2(1)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.K221*(1)|p.Q214fs*22(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89717636	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.413	ENSG00000171862	12528	g.chr10:89717636A>T	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264	63.185704	KEEP	13	24	-1	92	90	13	24	-1	80.789909	92	90	0.177778	1	0	0	0	0	0	1	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	T				234	GBM-32-1991-TP	p.K221*	A	CTGCCAGCTAAAGGTGAAGAT	NM_000314	NP_000305	89717636	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	1692	+	T	T		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Nonsense_Mutation	221			C2 tensin-type.			
PTEN	0	broad.mit.edu	GRCh37	10	89692835	89692835	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs57374291		TCGA-32-2634-01	TCGA-32-2634-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.319G>T	p.Asp107Tyr	p.D107Y	ENST00000371953	NM_000314.4	107	Gat/Tat	0			1			T	D/Y	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	319/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.R55fs*1(4)|p.D107Y(3)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.D107N(1)|p.D107A(1)|p.F56fs*2(1)|p.P103fs*3(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(319-321)GAT>TAT			PROSITE_profiles:PS51181,hmmpanther:PTHR12305,Gene3D:3.90.190.10,Pfam_domain:PF00782,PIRSF_domain:PIRSF038025,SMART_domains:SM00404,Superfamily_domains:SSF52799	phosphatase and tensin homolog				ENSP00000361021		9-May									COSM5212	9-May	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89692835G>T	9588			MODERATE		3.105	medium	getma.org/?cm=msa&ty=f&p=PTEN_HUMAN&rb=47&re=175&var=D107Y	getma.org/pdb.php?prot=PTEN_HUMAN&from=47&to=175&var=D107Y	getma.org/?cm=var&var=hg19,10,89692835,G,T&fts=all	D107Y	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1	1		probably_damaging(0.979)	p.D107Y	NM_000314	NP_000305		deleterious(0)	1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		6	1350	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	107		D -> Y (in BZS and glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		SNV	PTEN,missense_variant,p.Asp107Tyr,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000498703,;	uc001kfb.2	c.319G>T	1676/9027	1	1		31	c.319G>T	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(319-321)GAT>TAT	6	6		p.R55fs*1(4)|p.D107Y(3)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.D107N(1)|p.D107A(1)|p.F56fs*2(1)|p.P103fs*3(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89692835	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.368	ENSG00000171862	12528	g.chr10:89692835G>T	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264	197.700051	KEEP	42	30	0.583333333	29	19	42	30	0.583333333	200.223096	29	19	0.677778	1	0	0	0	0	1	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	T				241	GBM-32-2634-TP	p.D107Y	G	CTTTTGTGAAGATCTTGACCA	NM_000314	NP_000305	89692835	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1350	+	T	T		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Missense_Mutation	107		D -> Y (in BZS and glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.			
PTEN	0	broad.mit.edu	GRCh37	10	89720805	89720806	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-32-4213-01	TCGA-32-4213-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.959dupT	p.Leu320PhefsTer5	p.L320Ffs*5	ENST00000371953	NM_000314.4	319	act/acTt	0			1			T	T/TX	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	956-957/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.T319fs*1(22)|p.L318fs*2(11)|p.T319fs*6(6)|p.R55fs*1(4)|p.T319fs*24(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319del(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.G165_K342del(1)|p.L316fs*1(1)|p.T319fs*4(1)|p.T319fs*5(1)|p.W274_F341del(1)|p.V317_K322del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(955-957)ACTfs			PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Gene3D:1d5rA02,Pfam_domain:PF10409,PIRSF_domain:PIRSF038025,Superfamily_domains:SSF49562	phosphatase and tensin homolog				ENSP00000361021		9-Aug										9-Aug	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89720805_89720806insT	9588	3		HIGH								--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																																1			p.T319fs	NM_000314	NP_000305				PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		9	1987_1988	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	319		Missing (in glioma; reduced tumor suppressor activity; fails to inactivate AKT/PKB).	C2 tensin-type.		insertion	PTEN,frameshift_variant,p.Leu320PhefsTer5,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000472832,;	uc001kfb.2	c.956_957insT	2313-2314/9027	5	5		31	c.956_957insT	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	INS	c.(955-957)ACTfs	42	42		p.T319fs*1(22)|p.L318fs*2(11)|p.T319fs*6(6)|p.R55fs*1(4)|p.T319fs*24(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319del(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.G165_K342del(1)|p.L316fs*1(1)|p.T319fs*4(1)|p.T319fs*5(1)|p.W274_F341del(1)|p.V317_K322del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89720806	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.332	ENSG00000171862	12528	g.chr10:89720805_89720806insT	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264														0.47	1	0	0	1	1	0	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	T				247	GBM-32-4213-TP	p.T319fs	-	CTAGTACTTACTTTAACAAAAA	NM_000314	NP_000305	89720805	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	9	1987_1988	+	T	T		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Frame_Shift_Ins	319		Missing (in glioma; reduced tumor suppressor activity; fails to inactivate AKT/PKB).	C2 tensin-type.			
PTEN	0	broad.mit.edu	GRCh37	10	89692902	89692902	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs121909218		TCGA-32-5222-01	TCGA-32-5222-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.386G>A	p.Gly129Glu	p.G129E	ENST00000371953	NM_000314.4	129	gGa/gAa	0			1			A	G/E	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	386/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	pathogenic		p.G129R(6)|p.R55fs*1(4)|p.G129*(3)|p.K128_R130del(3)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G129V(1)|p.K128fs*47(1)|p.A121_F145del(1)|p.G129E(1)|p.G129fs*5(1)|p.G127fs*5(1)|p.G129fs*50(1)|p.F56fs*2(1)|p.G129fs*51(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(385-387)GGA>GAA			PROSITE_profiles:PS51181,hmmpanther:PTHR12305,PROSITE_patterns:PS00383,Gene3D:3.90.190.10,Pfam_domain:PF00782,PIRSF_domain:PIRSF038025,SMART_domains:SM00404,Superfamily_domains:SSF52799	phosphatase and tensin homolog				ENSP00000361021		9-May									rs121909218,COSM28917	9-May	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89692902G>A	9588			MODERATE		3.865	high	getma.org/?cm=msa&ty=f&p=PTEN_HUMAN&rb=47&re=175&var=G129E	getma.org/pdb.php?prot=PTEN_HUMAN&from=47&to=175&var=G129E	getma.org/?cm=var&var=hg19,10,89692902,G,A&fts=all	G129E	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1,1	1		probably_damaging(0.998)	p.G129E	NM_000314	NP_000305		deleterious(0)	0,1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		6	1417	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	129		G -> E (in CD; no lipid phosphatase activity but retains protein phosphatase activity; retains ability to inhibit focal adhesion formation).|G -> R (in glioblastoma; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		SNV	PTEN,missense_variant,p.Gly129Glu,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000498703,;	uc001kfb.2	c.386G>A	1743/9027	1	1		31	c.386G>A	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(385-387)GGA>GAA	61	61		p.G129R(6)|p.R55fs*1(4)|p.G129*(3)|p.K128_R130del(3)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G129V(1)|p.K128fs*47(1)|p.A121_F145del(1)|p.G129E(1)|p.G129fs*5(1)|p.G127fs*5(1)|p.G129fs*50(1)|p.F56fs*2(1)|p.G129fs*51(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89692902	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.413	ENSG00000171862	12528	g.chr10:89692902G>A	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		p.KGR128del(A2780-Tumor)	264		p.KGR128del(A2780-Tumor)	264	267.900564	KEEP	33	63	-1	27	40	33	63	-1	269.393313	27	40	0.613636	1	0	0	0	0	1	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	A				249	GBM-32-5222-TP	p.G129E	G	GCTGGAAAGGGACGAACTGGT	NM_000314	NP_000305	89692902	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1417	+	A	A		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Missense_Mutation	129		G -> E (in CD; no lipid phosphatase activity but retains protein phosphatase activity; retains ability to inhibit focal adhesion formation).|G -> R (in glioblastoma; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.			
PTEN	0	broad.mit.edu	GRCh37	10	89717672	89717672	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs121909219		TCGA-41-2571-01	TCGA-41-2571-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.697C>T	p.Arg233Ter	p.R233*	ENST00000371953	NM_000314.4	233	Cga/Tga	0			1			T	R/*	uc001kfb.2	protein_coding	YES	CCDS31238.1	R233*(JHUEM1_ENDOMETRIUM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(HEC59_ENDOMETRIUM)	31	697/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	pathogenic		p.R233*(61)|p.R233fs*10(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)|p.G165_K342del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(697-699)CGA>TGA			PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Gene3D:1d5rA02,Pfam_domain:PF10409,PIRSF_domain:PIRSF038025,Superfamily_domains:SSF49562	phosphatase and tensin homolog				ENSP00000361021		9-Jul									rs121909219,COSM5154	9-Jul	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89717672C>T	9588			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,10,89717672,C,T&fts=all	R233*	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1,1	1			p.R233*	NM_000314	NP_000305			0,1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		8	1728	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	233			C2 tensin-type.		SNV	PTEN,stop_gained,p.Arg233Ter,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000472832,;	uc001kfb.2	c.697C>T	2054/9027	5	1	R233*(JHUEM1_ENDOMETRIUM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(HEC59_ENDOMETRIUM)	31	c.697C>T	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(697-699)CGA>TGA	3	3		p.R233*(61)|p.R233fs*10(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)|p.G165_K342del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89717672	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.423	ENSG00000171862	12528	g.chr10:89717672C>T	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		p.R233*(JHUEM1-Tumor)|p.R233*(SW1783-Tumor)|p.R233*(SF295-Tumor)|p.T232fs(P31FUJ-Tumor)	264		p.R233*(JHUEM1-Tumor)|p.R233*(SW1783-Tumor)|p.R233*(SF295-Tumor)|p.T232fs(P31FUJ-Tumor)	264	222.624295	KEEP	47	29	-1	22	9	47	29	-1	226.125349	22	9	0.701031	1	0	0	0	0	0	1	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	T				250	GBM-41-2571-TP	p.R233*	C	AGGACCCACACGACGGGAAGA	NM_000314	NP_000305	89717672	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	1728	+	T	T		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Nonsense_Mutation	233			C2 tensin-type.			
PTEN	0	broad.mit.edu	GRCh37	10	89692800	89692800	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01	TCGA-41-2573-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.284C>T	p.Pro95Leu	p.P95L	ENST00000371953	NM_000314.4	95	cCa/cTa	0			1			T	P/L	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	284/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.R55fs*1(4)|p.P95S(4)|p.P95L(3)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.H93fs*5(1)|p.Q87_P96del(1)|p.N82_P95del(1)|p.F90_P95>L(1)|p.F56fs*2(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(283-285)CCA>CTA			PROSITE_profiles:PS51181,hmmpanther:PTHR12305,Gene3D:3.90.190.10,Pfam_domain:PF00782,PIRSF_domain:PIRSF038025,SMART_domains:SM00404,Superfamily_domains:SSF52799	phosphatase and tensin homolog				ENSP00000361021		9-May									COSM5105	9-May	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89692800C>T	9588			MODERATE		2.665	medium	getma.org/?cm=msa&ty=f&p=PTEN_HUMAN&rb=47&re=175&var=P95L	getma.org/pdb.php?prot=PTEN_HUMAN&from=47&to=175&var=P95L	getma.org/?cm=var&var=hg19,10,89692800,C,T&fts=all	P95L	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1	1		possibly_damaging(0.904)	p.P95L	NM_000314	NP_000305		deleterious(0)	1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		6	1315	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	95			Phosphatase tensin-type.		SNV	PTEN,missense_variant,p.Pro95Leu,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000498703,;	uc001kfb.2	c.284C>T	1641/9027	2	2		31	c.284C>T	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(283-285)CCA>CTA	42	42		p.R55fs*1(4)|p.P95S(4)|p.P95L(3)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.H93fs*5(1)|p.Q87_P96del(1)|p.N82_P95del(1)|p.F90_P95>L(1)|p.F56fs*2(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89692800	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.348	ENSG00000171862	12528	g.chr10:89692800C>T	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		p.P95Q(DND41-Tumor)	264		p.P95Q(DND41-Tumor)	264	223.653398	KEEP	35	37	-1	20	23	35	37	-1	225.722576	20	23	0.65625	1	0	0	0	0	1	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	T				252	GBM-41-2573-TP	p.P95L	C	GACCATAACCCACCACAGCTA	NM_000314	NP_000305	89692800	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1315	+	T	T		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Missense_Mutation	95			Phosphatase tensin-type.			
PTEN	0	broad.mit.edu	GRCh37	10	89690814	89690814	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-41-4097-01	TCGA-41-4097-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.221G>C	p.Arg74Thr	p.R74T	ENST00000371953	NM_000314.4	74	aGa/aCa	0			1			C	R/T	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	221/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.L70fs*7(4)|p.R55fs*1(4)|p.?(2)|p.C71fs*6(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.R74I(1)|p.E73fs*25(1)|p.R74fs*25(1)|p.F56fs*2(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(220-222)AGA>ACA			PROSITE_profiles:PS51181,hmmpanther:PTHR12305,Gene3D:3.90.190.10,PIRSF_domain:PIRSF038025,SMART_domains:SM00404,Superfamily_domains:SSF52799	phosphatase and tensin homolog				ENSP00000361021		9-Apr									COSM3397284	9-Apr	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89690814G>C	9588			MODERATE		3.5	medium	getma.org/?cm=msa&ty=f&p=PTEN_HUMAN&rb=47&re=175&var=R74T	getma.org/pdb.php?prot=PTEN_HUMAN&from=47&to=175&var=R74T	getma.org/?cm=var&var=hg19,10,89690814,G,C&fts=all	R74T	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1	1		probably_damaging(0.99)	p.R74T	NM_000314	NP_000305		deleterious(0)	1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		5	1252	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	74			Phosphatase tensin-type.		SNV	PTEN,missense_variant,p.Arg74Thr,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000498703,;	uc001kfb.2	c.221G>C	1578/9027	3	3		31	c.221G>C	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(220-222)AGA>ACA	9	9		p.L70fs*7(4)|p.R55fs*1(4)|p.?(2)|p.C71fs*6(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.R74I(1)|p.E73fs*25(1)|p.R74fs*25(1)|p.F56fs*2(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89690814	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.274	ENSG00000171862	12528	g.chr10:89690814G>C	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264	50.139728	KEEP	11	7	-1	18	12	11	7	-1	50.82256	18	12	0.358974	1	0	0	0	0	1	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	C				257	GBM-41-4097-TP	p.R74T	G	TGTGCTGAAAGACATTATGAC	NM_000314	NP_000305	89690814	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1252	+	C	C		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Missense_Mutation	74			Phosphatase tensin-type.			
PTEN	0	broad.mit.edu	GRCh37	10	89717715	89717716	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-76-4925-01	TCGA-76-4925-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.741dupA	p.Pro248ThrfsTer5	p.P248Tfs*5	ENST00000371953	NM_000314.4	247	tta/ttAa	0			1			A	L/LX	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	740-741/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.P248fs*5(11)|p.R55fs*1(4)|p.L247*(3)|p.L247fs*10(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L247fs*11(1)|p.L247fs*12(1)|p.G165_*404del(1)|p.L247fs*6(1)|p.L247fs*4(1)|p.?(1)|p.L247fs*5(1)|p.G165_K342del(1)|p.L247fs*8(1)|p.P246_L247insGP(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(739-741)TTAfs			PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Gene3D:1d5rA02,Pfam_domain:PF10409,PIRSF_domain:PIRSF038025,Superfamily_domains:SSF49562	phosphatase and tensin homolog				ENSP00000361021		9-Jul									COSM921127	9-Jul	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89717715_89717716insA	9588	1		HIGH								--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1	1			p.L247fs	NM_000314	NP_000305			1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		8	1771_1772	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	247			C2 tensin-type.		insertion	PTEN,frameshift_variant,p.Pro248ThrfsTer5,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000472832,;	uc001kfb.2	c.740_741insA	2097-2098/9027	5	5		31	c.740_741insA	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	INS	c.(739-741)TTAfs	64	64		p.P248fs*5(11)|p.R55fs*1(4)|p.L247*(3)|p.L247fs*10(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L247fs*11(1)|p.L247fs*12(1)|p.G165_*404del(1)|p.L247fs*6(1)|p.L247fs*4(1)|p.?(1)|p.L247fs*5(1)|p.G165_K342del(1)|p.L247fs*8(1)|p.P246_L247insGP(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89717716	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.406	ENSG00000171862	12528	g.chr10:89717715_89717716insA	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264														0.84	1	0	0	1	1	0	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	A				265	GBM-76-4925-TP	p.L247fs	-	CCTCAGCCGTTACCTGTGTGTG	NM_000314	NP_000305	89717715	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	1771_1772	+	A	A		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Frame_Shift_Ins	247			C2 tensin-type.			
PTEN	0	broad.mit.edu	GRCh37	10	89692905	89692905	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs121913292		TCGA-76-4927-01	TCGA-76-4927-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.389delG	p.Arg130GlnfsTer4	p.R130Qfs*4	ENST00000371953	NM_000314.4	130	cGa/ca	0			1			-	R/X	uc001kfb.2	protein_coding	YES	CCDS31238.1	R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)|R130Q(JHUEM1_ENDOMETRIUM)	31	389/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	pathogenic		p.R130G(65)|p.R130*(61)|p.R130Q(43)|p.R130fs*4(12)|p.R130L(7)|p.R55fs*1(4)|p.R130P(4)|p.K128_R130del(3)|p.Y27_N212>Y(2)|p.?(2)|p.Y27fs*1(2)|p.R130R(1)|p.K128fs*47(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(388-390)CGAfs			PROSITE_profiles:PS51181,hmmpanther:PTHR12305,PROSITE_patterns:PS00383,Gene3D:3.90.190.10,Pfam_domain:PF00782,PIRSF_domain:PIRSF038025,SMART_domains:SM00404,Superfamily_domains:SSF52799	phosphatase and tensin homolog				ENSP00000361021		9-May									rs121913292,COSM5817	9-May	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89692905delG	9588			HIGH								--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1,1	1			p.R130fs	NM_000314	NP_000305			0,1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		6	1420	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	130	R->M: Does not affect the ability to inhibit AKT/PKB activation.	R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).	Phosphatase tensin-type.		deletion	PTEN,frameshift_variant,p.Arg130GlnfsTer4,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000498703,;	uc001kfb.2	c.389delG	1746/9027	5	5	R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)|R130Q(JHUEM1_ENDOMETRIUM)	31	c.389delG	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	DEL	c.(388-390)CGAfs	16	16		p.R130G(65)|p.R130*(61)|p.R130Q(43)|p.R130fs*4(12)|p.R130L(7)|p.R55fs*1(4)|p.R130P(4)|p.K128_R130del(3)|p.Y27_N212>Y(2)|p.?(2)|p.Y27fs*1(2)|p.R130R(1)|p.K128fs*47(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89692905	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.403	ENSG00000171862	12528	g.chr10:89692905delG	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		p.R130Q(MFE296-Tumor)|p.R130Q(JHUEM1-Tumor)|p.R130Q(SNU81-Tumor)|p.R130Q(639V-Tumor)|p.R130fs(AN3CA-Tumor)	264		p.R130Q(MFE296-Tumor)|p.R130Q(JHUEM1-Tumor)|p.R130Q(SNU81-Tumor)|p.R130Q(639V-Tumor)|p.R130fs(AN3CA-Tumor)	264														0.07	1	1	0	1	0	0	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	-				267	GBM-76-4927-TP	p.R130fs	G	GGAAAGGGACGAACTGGTGTA	NM_000314	NP_000305	89692905	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1420	+	-	-		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Frame_Shift_Del	130	R->M: Does not affect the ability to inhibit AKT/PKB activation.	R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).	Phosphatase tensin-type.			
PTEN	0	broad.mit.edu	GRCh37	10	89712007	89712007	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-76-4931-01	TCGA-76-4931-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.625G>T	p.Gly209Ter	p.G209*	ENST00000371953	NM_000314.4	209	Gga/Tga	0			1			T	G/*	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	625/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.R55fs*1(4)|p.?(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(625-627)GGA>TGA			PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Gene3D:1d5rA02,Pfam_domain:PF10409,PIRSF_domain:PIRSF038025,Superfamily_domains:SSF49562	phosphatase and tensin homolog				ENSP00000361021		9-Jun									COSM308351	9-Jun	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89712007G>T	9588			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,10,89712007,G,T&fts=all	G209*	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1	1			p.G209*	NM_000314	NP_000305			1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		7	1656	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	209			C2 tensin-type.		SNV	PTEN,stop_gained,p.Gly209Ter,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000472832,;	uc001kfb.2	c.625G>T	1982/9027	5	2		31	c.625G>T	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(625-627)GGA>TGA	36	36		p.R55fs*1(4)|p.?(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89712007	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.328	ENSG00000171862	12528	g.chr10:89712007G>T	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264	378.972583	KEEP	72	53	0.576	16	21	72	53	0.576	388.928968	16	21	0.781022	1	0	0	0	0	0	1	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	T				270	GBM-76-4931-TP	p.G209*	G	GTTCAGTGGCGGAACTTGCAG	NM_000314	NP_000305	89712007	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	1656	+	T	T		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Nonsense_Mutation	209			C2 tensin-type.			
PTEN	0	broad.mit.edu	GRCh37	10	89692778	89692778	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-4934-01	TCGA-76-4934-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.262T>C	p.Tyr88His	p.Y88H	ENST00000371953	NM_000314.4	88	Tat/Cat	0			1			C	Y/H	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	262/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.Y88C(5)|p.R55fs*1(4)|p.?(2)|p.Y27fs*1(2)|p.Y88fs*3(2)|p.Y27_N212>Y(2)|p.Y88N(1)|p.Y88H(1)|p.Q87_P96del(1)|p.Y88S(1)|p.N82_P95del(1)|p.F56fs*2(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(262-264)TAT>CAT			PROSITE_profiles:PS51181,hmmpanther:PTHR12305,Gene3D:3.90.190.10,Pfam_domain:PF00782,PIRSF_domain:PIRSF038025,SMART_domains:SM00404,Superfamily_domains:SSF52799	phosphatase and tensin homolog				ENSP00000361021		9-May									COSM14246	9-May	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89692778T>C	9588			MODERATE		2.715	medium	getma.org/?cm=msa&ty=f&p=PTEN_HUMAN&rb=47&re=175&var=Y88H	getma.org/pdb.php?prot=PTEN_HUMAN&from=47&to=175&var=Y88H	getma.org/?cm=var&var=hg19,10,89692778,T,C&fts=all	Y88H	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1	1		probably_damaging(0.971)	p.Y88H	NM_000314	NP_000305		deleterious(0)	1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		6	1293	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	88			Phosphatase tensin-type.		SNV	PTEN,missense_variant,p.Tyr88His,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000498703,;	uc001kfb.2	c.262T>C	1619/9027	4	4		31	c.262T>C	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(262-264)TAT>CAT	36	36		p.Y88C(5)|p.R55fs*1(4)|p.?(2)|p.Y27fs*1(2)|p.Y88fs*3(2)|p.Y27_N212>Y(2)|p.Y88N(1)|p.Y88H(1)|p.Q87_P96del(1)|p.Y88S(1)|p.N82_P95del(1)|p.F56fs*2(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89692778	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.338	ENSG00000171862	12528	g.chr10:89692778T>C	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264	365.54955	KEEP	53	51	-1	13	17	53	51	-1	375.795359	13	17	0.808696	1	0	0	0	0	1	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	C				272	GBM-76-4934-TP	p.Y88H	T	AGTTGCACAATATCCTTTTGA	NM_000314	NP_000305	89692778	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1293	+	C	C		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Missense_Mutation	88			Phosphatase tensin-type.			
PTEN	0	broad.mit.edu	GRCh37	10	89720805	89720808	+	frameshift_variant	Frame_Shift_Del	DEL	CTTT	CTTT	-			TCGA-76-4935-01	TCGA-76-4935-01	CTTT	CTTT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.956_959delCTTT	p.Thr319LysfsTer24	p.T319Kfs*24	ENST00000371953	NM_000314.4	319	aCTTTa/aa	0			1			-	TL/X	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	956-959/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	pathogenic		p.T319fs*1(22)|p.L318fs*2(11)|p.T319fs*6(6)|p.R55fs*1(4)|p.T319fs*24(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319del(2)|p.L320*(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.G165_K342del(1)|p.L316fs*1(1)|p.T319fs*4(1)|p.T319fs*5(1)|p.W274_F341del(1)|p.V317_K322del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(955-960)ACTTTAfs			PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Gene3D:1d5rA02,Pfam_domain:PF10409,PIRSF_domain:PIRSF038025,Superfamily_domains:SSF49562	phosphatase and tensin homolog				ENSP00000361021		9-Aug									rs398123330,COSM4896	9-Aug	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89720805_89720808delCTTT	9588			HIGH								--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1,1	1			p.T319fs	NM_000314	NP_000305			0,1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		9	1987_1990	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	319_320			C2 tensin-type.		deletion	PTEN,frameshift_variant,p.Thr319LysfsTer24,ENST00000371953,NM_000314.4;PTEN,non_coding_transcript_exon_variant,,ENST00000472832,;	uc001kfb.2	c.956_959delCTTT	2313-2316/9027	5	5		31	c.956_959delCTTT	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	DEL	c.(955-960)ACTTTAfs	42	42		p.T319fs*1(22)|p.L318fs*2(11)|p.T319fs*6(6)|p.R55fs*1(4)|p.T319fs*24(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319del(2)|p.L320*(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.G165_K342del(1)|p.L316fs*1(1)|p.T319fs*4(1)|p.T319fs*5(1)|p.W274_F341del(1)|p.V317_K322del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89720808	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.328	ENSG00000171862	12528	g.chr10:89720805_89720808delCTTT	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264														0.81	1	1	0	1	0	0	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	-				273	GBM-76-4935-TP	p.T319fs	CTTT	CTAGTACTTACTTTAACAAAAAAT	NM_000314	NP_000305	89720805	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	9	1987_1990	+	-	-		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Frame_Shift_Del	319_320			C2 tensin-type.			
PTEN	0	broad.mit.edu	GRCh37	10	89624299	89624299	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-76-6191-01	TCGA-76-6191-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.73T>G	p.Leu25Val	p.L25V	ENST00000371953	NM_000314.4	25	Ttg/Gtg	0			1			G	L/V	uc001kfb.2	protein_coding	YES	CCDS31238.1		31	73/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	uncertain_significance		p.?(13)|p.0?(12)|p.L25F(2)|p.D24_L25del(1)|p.L25fs*28(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.(73-75)TTG>GTG			PROSITE_profiles:PS51181,hmmpanther:PTHR12305,Gene3D:3.90.190.10,PIRSF_domain:PIRSF038025,SMART_domains:SM00404,Superfamily_domains:SSF52799	phosphatase and tensin homolog				ENSP00000361021		9-Jan									rs398123326	9-Jan	.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89624299T>G	9588			MODERATE		2.65	medium	getma.org/?cm=msa&ty=f&p=PTEN_HUMAN&rb=14&re=185&var=L25V	getma.org/pdb.php?prot=PTEN_HUMAN&from=14&to=185&var=L25V	getma.org/?cm=var&var=hg19,10,89624299,T,G&fts=all	L25V	--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																														KILLIN_uc009xti.2_5'Flank	1	1		possibly_damaging(0.786)	p.L25V	NM_000314	NP_000305		deleterious(0)		PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		2	1104	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5	25			Phosphatase tensin-type.		SNV	PTEN,missense_variant,p.Leu25Val,ENST00000371953,NM_000314.4;KLLN,upstream_gene_variant,,ENST00000445946,NM_001126049.1;PTEN,non_coding_transcript_exon_variant,,ENST00000487939,;PTEN,non_coding_transcript_exon_variant,,ENST00000462694,;	uc001kfb.2	c.73T>G	1430/9027	3	3		31	c.73T>G	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.(73-75)TTG>GTG	64	64		p.?(13)|p.0?(12)|p.L25F(2)|p.D24_L25del(1)|p.L25fs*28(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89624299	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.463	ENSG00000171862	12528	g.chr10:89624299T>G	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		p.L25L(COLO684-Tumor)|p.L25Q(SUPHD1-Tumor)|p.L25L(COLO704-Tumor)|p.L25V(OVK18-Tumor)	264		p.L25L(COLO684-Tumor)|p.L25Q(SUPHD1-Tumor)|p.L25L(COLO704-Tumor)|p.L25V(OVK18-Tumor)	264	110.245735	KEEP	14	18	-1	7	4	14	18	-1	113.024274	7	4	0.775	1	0	0	0	0	1	0	0	0	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	G			KILLIN_uc009xti.2_5'Flank	274	GBM-76-6191-TP	p.L25V	T	CGACTTAGACTTGACCTGTAT	NM_000314	NP_000305	89624299	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	2	1104	+	G	G		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Missense_Mutation	25			Phosphatase tensin-type.			
PTEN	0	broad.mit.edu	GRCh37	10	89720650	89720650	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A			TCGA-76-6192-01	TCGA-76-6192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371953.3:c.802-1G>A		p.X268_splice	ENST00000371953	NM_000314.4			0			1			A		uc001kfb.2	protein_coding	YES	CCDS31238.1		31	802/1212	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial			p.R55fs*1(4)|p.?(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.M264fs*8(2)|p.G165_*404del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	c.e9-1				phosphatase and tensin homolog				ENSP00000361021											COSM28919		.	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	ENST00000371953	Transcript	1		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000171862	g.chr10:89720650G>A	9588			HIGH	8-Jul							--	--	1				HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																															1	1			p.D268_splice	NM_000314	NP_000305			1	PTEN_HUMAN	PTEN	HGNC	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN		9	1833	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	UPI00001328C5						SNV	PTEN,splice_acceptor_variant,,ENST00000371953,NM_000314.4;PTEN,splice_acceptor_variant,,ENST00000472832,;	uc001kfb.2	c.802_splice	-/9027	5	2		31	c.802_splice	D|Mis|N|F|S			harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial	10	SNP	c.e9-1	28	28		p.R55fs*1(4)|p.?(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.M264fs*8(2)|p.G165_*404del(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	Broad	phosphatase and tensin homolog			89720650	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	0.239	ENSG00000171862	12528	g.chr10:89720650G>A	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			264			264	12.498471	KEEP	5	1	-1	5	3	5	1	-1	12.677823	5	3	0.363636	1	0	0	0	0	0	0	0	1	--	--	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	0	A				275	GBM-76-6192-TP	p.D268_splice	G	tttttttttAGGACAAAATGT	NM_000314	NP_000305	89720650	P60484	PTEN_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	9	1833	+	A	A		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	Splice_Site							
PTEN	5728		GRCh37	10	89692893	89692893	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000371953.3:c.377C>T	p.Ala126Val	p.A126V	ENST00000371953	NM_000314.4	126	gCt/gTt	0																																																																																																																																																																																																																																												
PTEN	5728		GRCh37	10	89711900	89711900	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2510-01	TCGA-28-2510-01																				ENST00000371953.3:c.518G>A	p.Arg173His	p.R173H	ENST00000371953	NM_000314.4	173	cGc/cAc	0																																																																																																																																																																																																																																												
PTEN	5728		GRCh37	10	89720855	89720856	+	stop_gained,frameshift_variant	Nonsense_Mutation	INS	-	-	A			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000371953.3:c.1007dup	p.Tyr336Ter	p.Y336*	ENST00000371953	NM_000314.4	336	tac/tAac	0																																																																																																																																																																																																																																												
PTEN	5728		GRCh37	10	89624265	89624267	+	inframe_deletion	In_Frame_Del	DEL	AAG	AAG	-			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000371953.3:c.39_41del	p.Arg15del	p.R15del	ENST00000371953	NM_000314.4	13	aaAAGg/aag	0																																																																																																																																																																																																																																												
PTEN	5728		GRCh37	10	89720661	89720661	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000371953.3:c.812T>C	p.Phe271Ser	p.F271S	ENST00000371953	NM_000314.4	271	tTt/tCt	0																																																																																																																																																																																																																																												
PTEN	5728		GRCh37	10	89692852	89692856	+	frameshift_variant	Frame_Shift_Del	DEL	AAGTG	AAGTG	-			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000371953.3:c.339_343del	p.Ser113ArgfsTer2	p.S113Rfs*2	ENST00000371953	NM_000314.4	112	ctAAGTGaa/ctaa	0																																																																																																																																																																																																																																												
PTEN	5728		GRCh37	10	89720664	89720664	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000371953.3:c.815A>C	p.His272Pro	p.H272P	ENST00000371953	NM_000314.4	272	cAc/cCc	0																																																																																																																																																																																																																																												
PTEN	5728		GRCh37	10	89717672	89717672	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000371953.3:c.697C>T	p.Arg233Ter	p.R233*	ENST00000371953	NM_000314.4	233	Cga/Tga	0																																																																																																																																																																																																																																												
PTEN	5728		GRCh37	10	89692768	89692768	+	splice_acceptor_variant	Splice_Site	SNP	A	A	C			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000371953.3:c.254-2A>C		p.X85_splice	ENST00000371953	NM_000314.4	85		0																																																																																																																																																																																																																																												
PTEN	5728		GRCh37	10	89692923	89692923	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000371953.3:c.407G>A	p.Cys136Tyr	p.C136Y	ENST00000371953	NM_000314.4	136	tGt/tAt	0																																																																																																																																																																																																																																												
PTER	9317	broad.mit.edu	GRCh37	10	16528558	16528558	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0211-01	TCGA-06-0211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378000.1:c.640C>T	p.Arg214Ter	p.R214*	ENST00000378000	NM_001001484.2	214	Cga/Tga	0	T:0.0005		1			T	R/*	uc001iog.1	protein_coding	YES	CCDS7111.1			640/1050									ovary(2)	2	c.(640-642)CGA>TGA			Gene3D:3.20.20.140,Pfam_domain:PF02126,PROSITE_profiles:PS51347,hmmpanther:PTHR10819,Superfamily_domains:SSF51556	phosphotriesterase related			T:0	ENSP00000367239		6-Apr	3.29E-05	0.000192	8.68E-05			1.50E-05			rs370033967,COSM304885	6-Apr	.		ENST00000378000	Transcript			catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding	ENSG00000165983	g.chr10:16528558C>T	9590			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,10,16528558,C,T&fts=all	R214*	--	--	1																																		PTER_uc001ioh.1_Nonsense_Mutation_p.R214*|PTER_uc001ioi.1_Nonsense_Mutation_p.R214*|PTER_uc009xjp.1_Nonsense_Mutation_p.R214*	0,1	1			p.R214*	NM_030664	NP_109589			0,1	PTER_HUMAN	PTER	HGNC	Q96BW5	PTER_HUMAN					4	847	+			UPI00000492E9	214					SNV	PTER,stop_gained,p.Arg214Ter,ENST00000378000,NM_001001484.2,NM_001261838.1,NM_030664.4;PTER,stop_gained,p.Arg214Ter,ENST00000298942,NM_001261838.1;PTER,stop_gained,p.Arg214Ter,ENST00000423462,NM_001261837.1;PTER,stop_gained,p.Arg214Ter,ENST00000535784,NM_001261836.1;PTER,non_coding_transcript_exon_variant,,ENST00000485788,;	uc001iog.1	c.640C>T	886/3777	5	2			c.640C>T						10	SNP	c.(640-642)CGA>TGA	48	48			ovary(2)	2	Broad	phosphotriesterase related			16528558		0.478	ENSG00000165983	12529	g.chr10:16528558C>T	catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding	Ovarian(2;46 150 15648 38137 47908)			Ovarian(2;46 150 15648 38137 47908)			-4.22605	KEEP	4	2	-1	47	51	4	2	-1	13.294934	47	51	0.066667	1	0	0	0	0	0	1	0	0	--	--		0	T			PTER_uc001ioh.1_Nonsense_Mutation_p.R214*|PTER_uc001ioi.1_Nonsense_Mutation_p.R214*|PTER_uc009xjp.1_Nonsense_Mutation_p.R214*	48	GBM-06-0211-TP	p.R214*	C	TCAGATTATCCGAATATTGCA	NM_030664	NP_109589	16528558	Q96BW5	PTER_HUMAN	0			4	847	+	T	T			Nonsense_Mutation	214						
PTGDR	5729		GRCh37	14	52735336	52735336	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000306051.2:c.804G>A	p.Ala268=	p.A268=	ENST00000306051	NM_000953.2	268	gcG/gcA	0																																																																																																																																																																																																																																												
PTGER4	0	broad.mit.edu	GRCh37	5	40681502	40681502	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01	TCGA-26-5136-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302472.3:c.407C>T	p.Ala136Val	p.A136V	ENST00000302472	NM_000958.2	136	gCg/gTg	0			1			T	A/V	uc003jlz.2	protein_coding	YES	CCDS3930.1			407/1467									lung(2)	2	c.(406-408)GCG>GTG			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00586,PROSITE_profiles:PS50262,hmmpanther:PTHR11866,hmmpanther:PTHR11866:SF6,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	prostaglandin E receptor 4, subtype EP4				ENSP00000302846		3-Feb									COSM3410271	3-Feb	.		ENST00000302472	Transcript			G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	ENSG00000171522	g.chr5:40681502C>T	9596			MODERATE		2.13	medium	getma.org/?cm=msa&ty=f&p=PE2R4_HUMAN&rb=34&re=329&var=A136V	getma.org/pdb.php?prot=PE2R4_HUMAN&from=34&to=329&var=A136V	getma.org/?cm=var&var=hg19,5,40681502,C,T&fts=all	A136V	--	--	1																																OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1	1		possibly_damaging(0.902)	p.A136V	NM_000958	NP_000949		deleterious(0)	1	PE2R4_HUMAN	PTGER4	HGNC	P35408	PE2R4_HUMAN			A0PJF5_HUMAN		2	999	+			UPI000005042F	136			Helical; Name=4; (Potential).		SNV	PTGER4,missense_variant,p.Ala136Val,ENST00000302472,NM_000958.2;PTGER4,non_coding_transcript_exon_variant,,ENST00000514343,;PTGER4,upstream_gene_variant,,ENST00000512578,;PTGER4,upstream_gene_variant,,ENST00000513635,;PTGER4,upstream_gene_variant,,ENST00000509543,;	uc003jlz.2	c.407C>T	1431/3848	2	2			c.407C>T						5	SNP	c.(406-408)GCG>GTG	29	29			lung(2)	2	Broad	prostaglandin E receptor 4, subtype EP4			40681502		0.597	ENSG00000171522	12535	g.chr5:40681502C>T	G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity							-40.127235	KEEP	1	4	-1	148	180	1	4	-1	7.265259	148	180	0.026178	1	0	0	0	0	1	0	0	0	--	--		0	T	OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		185	GBM-26-5136-TP	p.A136V	C	AAGCGATTGGCGGGCCTCACG	NM_000958	NP_000949	40681502	P35408	PE2R4_HUMAN	0			2	999	+	T	T			Missense_Mutation	136			Helical; Name=4; (Potential).			
PTGER4P2	5736		GRCh37	9	66499750	66499750	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	C			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000328411.3:n.8G>C		p.*3*	ENST00000328411				0																																																																																																																																																																																																																																												
PTGFR	0	broad.mit.edu	GRCh37	1	78958623	78958623	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2623-01	TCGA-19-2623-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370757.3:c.195G>A	p.Ser65=	p.S65=	ENST00000370757	NM_000959.3	65	tcG/tcA	0			1			A	S	uc001din.2	protein_coding	YES	CCDS686.1			195/1080									ovary(3)|breast(2)|skin(1)	6	c.(193-195)TCG>TCA			PROSITE_profiles:PS50262,hmmpanther:PTHR11866,hmmpanther:PTHR11866:SF4,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00855,Prints_domain:PR01788	prostaglandin F receptor isoform a precursor	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)			ENSP00000359793		3-Feb	8.24E-06			0.000116					rs774495214,COSM196794,COSM196795	3-Feb	.		ENST00000370757	Transcript			parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	ENSG00000122420	g.chr1:78958623G>A	9600			LOW								--	--	1																																		PTGFR_uc001dim.2_Silent_p.S65S	0,1,1	1			p.S65S	NM_000959	NP_000950			0,1,1	PF2R_HUMAN	PTGFR	HGNC	P43088	PF2R_HUMAN		Colorectal(170;0.248)			2	461	+			UPI0000001C40	65			Cytoplasmic (Potential).		SNV	PTGFR,synonymous_variant,p.=,ENST00000370756,NM_001039585.1;PTGFR,synonymous_variant,p.=,ENST00000370757,NM_000959.3;PTGFR,synonymous_variant,p.=,ENST00000370758,;PTGFR,synonymous_variant,p.=,ENST00000497923,;	uc001din.2	c.195G>A	432/4379	1	1			c.195G>A						1	SNP	c.(193-195)TCG>TCA	64	64			ovary(3)|breast(2)|skin(1)	6	Broad	prostaglandin F receptor isoform a precursor		Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	78958623		0.423	ENSG00000122420	12539	g.chr1:78958623G>A	parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity							-47.71868	KEEP	4	2	-1	118	108	4	2	-1	8.716745	118	108	0.022523	1	0	0	0	0	0	0	1	0	--	--		0	A			PTGFR_uc001dim.2_Silent_p.S65S	163	GBM-19-2623-TP	p.S65S	G	CCAAGGCATCGTTTCTGCTTT	NM_000959	NP_000950	78958623	P43088	PF2R_HUMAN	0		Colorectal(170;0.248)	2	461	+	A	A			Silent	65			Cytoplasmic (Potential).			
PTGFR	0	broad.mit.edu	GRCh37	1	79002163	79002163	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-32-1970-01	TCGA-32-1970-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370757.3:c.871C>T	p.Arg291Ter	p.R291*	ENST00000370757	NM_000959.3	291	Cga/Tga	0			1			T	R/*	uc001din.2	protein_coding	YES	CCDS686.1			871/1080									ovary(3)|breast(2)|skin(1)	6	c.(871-873)CGA>TGA			PROSITE_profiles:PS50262,hmmpanther:PTHR11866,hmmpanther:PTHR11866:SF4,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	prostaglandin F receptor isoform a precursor	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)			ENSP00000359793		3-Mar	3.29E-05					4.51E-05		6.06E-05	rs750752823,COSM3401023	3-Mar	.		ENST00000370757	Transcript			parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	ENSG00000122420	g.chr1:79002163C>T	9600			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,79002163,C,T&fts=all	R291*	--	--	1																																		PTGFR_uc001dim.2_3'UTR	0,1	1			p.R291*	NM_000959	NP_000950			0,1	PF2R_HUMAN	PTGFR	HGNC	P43088	PF2R_HUMAN		Colorectal(170;0.248)			3	1137	+			UPI0000001C40	291			Helical; Name=7; (Potential).		SNV	PTGFR,stop_gained,p.Arg291Ter,ENST00000370757,NM_000959.3;PTGFR,stop_gained,p.Arg291Ter,ENST00000370758,;PTGFR,3_prime_UTR_variant,,ENST00000370756,NM_001039585.1;PTGFR,3_prime_UTR_variant,,ENST00000497923,;	uc001din.2	c.871C>T	1108/4379	5	1			c.871C>T						1	SNP	c.(871-873)CGA>TGA	7	7			ovary(3)|breast(2)|skin(1)	6	Broad	prostaglandin F receptor isoform a precursor		Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	79002163		0.388	ENSG00000122420	12539	g.chr1:79002163C>T	parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity							424.62969	KEEP	61	74	-1	65	68	61	74	-1	424.630502	65	68	0.498039	1	0	0	0	0	0	1	0	0	--	--		0	T			PTGFR_uc001dim.2_3'UTR	228	GBM-32-1970-TP	p.R291*	C	TTTTGCTCTCCGAATGGCAAC	NM_000959	NP_000950	79002163	P43088	PF2R_HUMAN	0		Colorectal(170;0.248)	3	1137	+	T	T			Nonsense_Mutation	291			Helical; Name=7; (Potential).			
PTGFRN	0	broad.mit.edu	GRCh37	1	117484643	117484643	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-27-1830-01	TCGA-27-1830-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393203.2:c.356G>T	p.Cys119Phe	p.C119F	ENST00000393203	NM_020440.2	119	tGt/tTt	0			1			T	C/F	uc001egv.1	protein_coding	YES	CCDS890.1			356/2640									liver(1)	1	c.(355-357)TGT>TTT			Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF3,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726	prostaglandin F2 receptor negative regulator				ENSP00000376899		9-Feb									COSM3399581	9-Feb	.		ENST00000393203	Transcript				endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	ENSG00000134247	g.chr1:117484643G>T	9601			MODERATE		2.41	medium	getma.org/?cm=msa&ty=f&p=FPRP_HUMAN&rb=22&re=140&var=C119F	NA	getma.org/?cm=var&var=hg19,1,117484643,G,T&fts=all	C119F	--	--	1																																			1	1		probably_damaging(0.999)	p.C119F	NM_020440	NP_065173		deleterious(0)	1	FPRP_HUMAN	PTGFRN	HGNC	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	Q9H3U3_HUMAN		2	493	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	UPI000012ABC4	119			Extracellular (Potential).|Ig-like C2-type 1.		SNV	PTGFRN,missense_variant,p.Cys119Phe,ENST00000393203,NM_020440.2;	uc001egv.1	c.356G>T	503/6178	2	2			c.356G>T						1	SNP	c.(355-357)TGT>TTT	36	36			liver(1)	1	Broad	prostaglandin F2 receptor negative regulator			117484643		0.483	ENSG00000134247	12540	g.chr1:117484643G>T		endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding							113.719905	KEEP	28	18	0.608695652	51	52	28	18	0.608695652	117.665983	51	52	0.315385	1	0	0	0	0	1	0	0	0	--	--		0	T				189	GBM-27-1830-TP	p.C119F	G	CACTACAAATGTTCAACCCCC	NM_020440	NP_065173	117484643	Q9P2B2	FPRP_HUMAN	0		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	2	493	+	T	T	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	Missense_Mutation	119			Extracellular (Potential).|Ig-like C2-type 1.			
PTGIS	5740		GRCh37	20	48129691	48129691	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000244043.4:c.1132C>T	p.Arg378Ter	p.R378*	ENST00000244043	NM_000961.3	378	Cga/Tga	0																																																																																																																																																																																																																																												
PTGR1	0	broad.mit.edu	GRCh37	9	114332377	114332377	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-3393-01	TCGA-41-3393-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309195.5:c.873C>T	p.Val291=	p.V291=	ENST00000309195	NM_012212.3	291	gtC/gtT	0			1			A	V	uc004bfh.2	protein_coding		CCDS6779.1			873/990										0	c.(871-873)GTC>GTT			Gene3D:3.40.50.720,hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF5,SMART_domains:SM00829,Superfamily_domains:SSF50129,TIGRFAM_domain:TIGR02825	prostaglandin reductase 1 isoform 1				ENSP00000311572		10-Sep									COSM3413256	10-Sep	.		ENST00000309195	Transcript			leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding	ENSG00000106853	g.chr9:114332377G>A	18429			LOW								--	--	1																																		ZNF483_uc004bfg.2_Intron|PTGR1_uc011lwr.1_Silent_p.V291V|PTGR1_uc004bfi.3_Silent_p.V291V|PTGR1_uc004bfj.3_Silent_p.V168V|PTGR1_uc010mue.2_Silent_p.V291V	1				p.V291V	NM_012212	NP_036344			1	PTGR1_HUMAN	PTGR1	HGNC	Q14914	PTGR1_HUMAN					9	976	-			UPI000012E24A	291					SNV	PTGR1,synonymous_variant,p.=,ENST00000407693,NM_001146108.1;PTGR1,synonymous_variant,p.=,ENST00000309195,NM_012212.3;PTGR1,synonymous_variant,p.=,ENST00000538962,NM_001146109.1;PTGR1,synonymous_variant,p.=,ENST00000238248,;ZNF483,intron_variant,,ENST00000358151,NM_001007169.2;RP11-16L21.7,upstream_gene_variant,,ENST00000450154,;PTGR1,synonymous_variant,p.=,ENST00000466771,;PTGR1,3_prime_UTR_variant,,ENST00000374324,;	uc004bfh.2	c.873C>T	952/1223	2	2			c.873C>T						9	SNP	c.(871-873)GTC>GTT	22	22				0	Broad	prostaglandin reductase 1 isoform 1			114332377		0.303	ENSG00000106853	12543	g.chr9:114332377G>A	leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding	Ovarian(200;132 2151 7551 19220 46064)			Ovarian(200;132 2151 7551 19220 46064)			52.087466	KEEP	10	11	-1	19	49	10	11	-1	56.405485	19	49	0.25	1	0	0	0	0	0	0	1	0	--	--		0	A			ZNF483_uc004bfg.2_Intron|PTGR1_uc011lwr.1_Silent_p.V291V|PTGR1_uc004bfi.3_Silent_p.V291V|PTGR1_uc004bfj.3_Silent_p.V168V|PTGR1_uc010mue.2_Silent_p.V291V	255	GBM-41-3393-TP	p.V291V	G	TTACCTCTAAGACCCATTTCA	NM_012212	NP_036344	114332377	Q14914	PTGR1_HUMAN	0			9	976	-	A	A			Silent	291						
PTGR2	145482		GRCh37	14	74346839	74346839	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000555661.1:c.811C>G	p.Pro271Ala	p.P271A	ENST00000555661		271	Cct/Gct	0																																																																																																																																																																																																																																												
PTGS1	5742	broad.mit.edu	GRCh37	9	125146014	125146014	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0216-01	TCGA-06-0216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000362012.2:c.989C>T	p.Thr330Met	p.T330M	ENST00000362012	NM_000962.3	330	aCg/aTg	0		T:0.0008	1	T:0		T	T/M	uc004bmg.1	protein_coding	YES	CCDS6842.1			989/1800									ovary(1)|skin(1)	2	c.(988-990)ACG>ATG			Gene3D:1.10.640.10,Pfam_domain:PF03098,Prints_domain:PR00457,PROSITE_profiles:PS50292,hmmpanther:PTHR11903,hmmpanther:PTHR11903:SF6,Superfamily_domains:SSF48113	prostaglandin-endoperoxide synthase 1 isoform 1	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	T:0		ENSP00000354612	T:0	11-Aug	8.24E-06	9.70E-05							rs543848883,COSM2150934	11-Aug	.		ENST00000362012	Transcript		T:0.0002	cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	ENSG00000095303	g.chr9:125146014C>T	9604			MODERATE		3.48	medium	getma.org/?cm=msa&ty=f&p=PGH1_HUMAN&rb=138&re=581&var=T330M	getma.org/pdb.php?prot=PGH1_HUMAN&from=138&to=581&var=T330M	getma.org/?cm=var&var=hg19,9,125146014,C,T&fts=all	T330M	--	--	1																																		PTGS1_uc011lys.1_Missense_Mutation_p.T305M|PTGS1_uc010mwb.1_Missense_Mutation_p.T221M|PTGS1_uc004bmf.1_Missense_Mutation_p.T330M|PTGS1_uc004bmh.1_Missense_Mutation_p.T221M|PTGS1_uc011lyt.1_Missense_Mutation_p.T221M	0,1	1		probably_damaging(1)	p.T330M	NM_000962	NP_000953	T:0	deleterious(0)	0,1	PGH1_HUMAN	PTGS1	HGNC	P23219	PGH1_HUMAN					8	1124	+			UPI0000161DAC	330					SNV	PTGS1,missense_variant,p.Thr330Met,ENST00000362012,NM_000962.3,NM_001271164.1,NM_080591.2,NM_001271367.1;PTGS1,missense_variant,p.Thr330Met,ENST00000223423,;PTGS1,missense_variant,p.Thr305Met,ENST00000540753,NM_001271166.1,NM_001271368.1;PTGS1,missense_variant,p.Thr221Met,ENST00000373698,NM_001271165.1;PTGS1,downstream_gene_variant,,ENST00000426608,;AL162424.1,downstream_gene_variant,,ENST00000600713,;	uc004bmg.1	c.989C>T	994/4964	1	1			c.989C>T						9	SNP	c.(988-990)ACG>ATG	3	3			ovary(1)|skin(1)	2	Broad	prostaglandin-endoperoxide synthase 1 isoform 1		Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	125146014		0.607	ENSG00000095303	12545	g.chr9:125146014C>T	cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity							61.144001	KEEP	16	9	-1	23	22	16	9	-1	61.97764	23	22	0.372881	1	0	0	0	0	1	0	0	0	--	--		0	T			PTGS1_uc011lys.1_Missense_Mutation_p.T305M|PTGS1_uc010mwb.1_Missense_Mutation_p.T221M|PTGS1_uc004bmf.1_Missense_Mutation_p.T330M|PTGS1_uc004bmh.1_Missense_Mutation_p.T221M|PTGS1_uc011lyt.1_Missense_Mutation_p.T221M	51	GBM-06-0216-TP	p.T330M	C	CTTTTCCAGACGACCCGCCTC	NM_000962	NP_000953	125146014	P23219	PGH1_HUMAN	0			8	1124	+	T	T			Missense_Mutation	330						
PTGS2	5743		GRCh37	1	186645642	186645642	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000367468.5:c.927G>A	p.Trp309Ter	p.W309*	ENST00000367468	NM_000963.2	309	tgG/tgA	0																																																																																																																																																																																																																																												
PTH2R	5746	broad.mit.edu	GRCh37	2	209308179	209308179	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0649-01	TCGA-06-0649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000272847.2:c.616G>C	p.Gly206Arg	p.G206R	ENST00000272847	NM_005048.3	206	Gga/Cga	0			1			C	G/R	uc002vdb.2	protein_coding	YES	CCDS2383.1			616/1653									ovary(1)|breast(1)|skin(1)	3	c.(616-618)GGA>CGA			Superfamily_domains:SSF81321,Pfam_domain:PF00002,hmmpanther:PTHR12011:SF69,hmmpanther:PTHR12011,PROSITE_profiles:PS50261	parathyroid hormone 2 receptor precursor				ENSP00000272847		13-Jun									COSM2151459	13-Jun	.		ENST00000272847	Transcript				integral to plasma membrane	parathyroid hormone receptor activity	ENSG00000144407	g.chr2:209308179G>C	9609			MODERATE		1.24	low	getma.org/?cm=msa&ty=f&p=PTH2R_HUMAN&rb=141&re=409&var=G206R	NA	getma.org/?cm=var&var=hg19,2,209308179,G,C&fts=all	G206R	--	--	1																																		PTH2R_uc010zjb.1_Missense_Mutation_p.G217R	1	1		benign(0.424)	p.G206R	NM_005048	NP_005039		tolerated(0.15)	1	PTH2R_HUMAN	PTH2R	HGNC	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Q53T35_HUMAN,Q53SF6_HUMAN,B4DFN8_HUMAN		6	829	+			UPI000005041E	206			Extracellular (Potential).		SNV	PTH2R,missense_variant,p.Gly206Arg,ENST00000272847,NM_005048.3;PTH2R,non_coding_transcript_exon_variant,,ENST00000413482,;	uc002vdb.2	c.616G>C	829/2713	3	3			c.616G>C						2	SNP	c.(616-618)GGA>CGA	64	64			ovary(1)|breast(1)|skin(1)	3	Broad	parathyroid hormone 2 receptor precursor			209308179		0.413	ENSG00000144407	12550	g.chr2:209308179G>C		integral to plasma membrane	parathyroid hormone receptor activity							58.498252	KEEP	9	14	-1	41	40	9	14	-1	64.769881	41	40	0.231579	1	0	0	0	0	1	0	0	0	--	--		0	C			PTH2R_uc010zjb.1_Missense_Mutation_p.G217R	62	GBM-06-0649-TP	p.G206R	G	TGCTCACATAGGAGTAAAGGA	NM_005048	NP_005039	209308179	P49190	PTH2R_HUMAN	0		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	6	829	+	C	C			Missense_Mutation	206			Extracellular (Potential).			
PTK2B	2185	broad.mit.edu	GRCh37	8	27310672	27310672	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01	TCGA-06-0214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397501.1:c.2590G>A	p.Ala864Thr	p.A864T	ENST00000397501	NM_173174.2	864	Gca/Aca	0			1			A	A/T	uc003xfn.1	protein_coding		CCDS6057.1			2590/3030									lung(3)|ovary(1)|skin(1)	5	c.(2590-2592)GCA>ACA			hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF94,Superfamily_domains:SSF68993	PTK2B protein tyrosine kinase 2 beta isoform a				ENSP00000332816		28/31	4.94E-05		0.000259	0.000116	0.000151	1.50E-05			rs753976890,COSM3412961,COSM3412960	28/31	.		ENST00000346049	Transcript			apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	ENSG00000120899	g.chr8:27310672G>A	9612			MODERATE		2.095	medium	getma.org/?cm=msa&ty=f&p=FAK2_HUMAN&rb=770&re=869&var=A864T	NA	getma.org/?cm=var&var=hg19,8,27310672,G,A&fts=all	A864T	--	--	1																																		PTK2B_uc003xfo.1_Missense_Mutation_p.A864T|PTK2B_uc003xfp.1_Missense_Mutation_p.A864T|PTK2B_uc003xfq.1_Missense_Mutation_p.A822T	0,1,1			benign(0.002)	p.A864T	NM_173174	NP_775266		tolerated(0.17)	0,1,1	FAK2_HUMAN	PTK2B	HGNC	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	E5RK84_HUMAN,E5RJ77_HUMAN,E5RHL2_HUMAN,C9JHV9_HUMAN		33	3398	+		Ovarian(32;2.72e-05)	UPI000000D9EC	864			Interaction with TGFB1I1 (By similarity).|Pro-rich.		SNV	PTK2B,missense_variant,p.Ala864Thr,ENST00000397501,NM_173174.2;PTK2B,missense_variant,p.Ala822Thr,ENST00000338238,;PTK2B,missense_variant,p.Ala864Thr,ENST00000544172,;PTK2B,missense_variant,p.Ala864Thr,ENST00000346049,NM_173176.2,NM_004103.4;PTK2B,missense_variant,p.Ala822Thr,ENST00000420218,NM_173175.2;PTK2B,missense_variant,p.Ala822Thr,ENST00000517339,;PTK2B,downstream_gene_variant,,ENST00000397497,;PTK2B,non_coding_transcript_exon_variant,,ENST00000482543,;PTK2B,upstream_gene_variant,,ENST00000522245,;	uc003xfn.1	c.2590G>A	2830/4147	1	1			c.2590G>A						8	SNP	c.(2590-2592)GCA>ACA	59	59			lung(3)|ovary(1)|skin(1)	5	Broad	PTK2B protein tyrosine kinase 2 beta isoform a			27310672		0.498	ENSG00000120899	12553	g.chr8:27310672G>A	apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			347			347	4.870345	KEEP	8	6	-1	51	67	8	6	-1	22.909253	51	67	0.092593	1	0	0	0	0	1	0	0	0	--	--		0	A			PTK2B_uc003xfo.1_Missense_Mutation_p.A864T|PTK2B_uc003xfp.1_Missense_Mutation_p.A864T|PTK2B_uc003xfq.1_Missense_Mutation_p.A822T	50	GBM-06-0214-TP	p.A864T	G	GAGGCTGGGCGCACAGGTATG	NM_173174	NP_775266	27310672	Q14289	FAK2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	33	3398	+	A	A		Ovarian(32;2.72e-05)	Missense_Mutation	864			Interaction with TGFB1I1 (By similarity).|Pro-rich.			
PTK2B	0	broad.mit.edu	GRCh37	8	27308400	27308400	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000346049.5:c.2475G>A	p.Glu825=	p.E825=	ENST00000346049	NM_173176.2	825	gaG/gaA	0			1			A	E	uc003xfn.1	protein_coding		CCDS6057.1			2475/3030									lung(3)|ovary(1)|skin(1)	5	c.(2473-2475)GAG>GAA			hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF94	PTK2B protein tyrosine kinase 2 beta isoform a				ENSP00000332816		25/31	8.24E-06					1.50E-05			rs766407905,COSM3412958,COSM3412959,COSM3412957	25/31	.		ENST00000346049	Transcript			apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	ENSG00000120899	g.chr8:27308400G>A	9612			LOW								--	--	1																																		PTK2B_uc003xfo.1_Silent_p.E825E|PTK2B_uc003xfp.1_Silent_p.E825E|PTK2B_uc003xfq.1_Silent_p.E783E|PTK2B_uc003xfs.1_Silent_p.E22E	0,1,1,1				p.E825E	NM_173174	NP_775266			0,1,1,1	FAK2_HUMAN	PTK2B	HGNC	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	E5RK84_HUMAN,E5RJ77_HUMAN,E5RHL2_HUMAN,C9JHV9_HUMAN		30	3283	+		Ovarian(32;2.72e-05)	UPI000000D9EC	825			Interaction with TGFB1I1 (By similarity).		SNV	PTK2B,synonymous_variant,p.=,ENST00000397501,NM_173174.2;PTK2B,synonymous_variant,p.=,ENST00000338238,;PTK2B,synonymous_variant,p.=,ENST00000544172,;PTK2B,synonymous_variant,p.=,ENST00000346049,NM_173176.2,NM_004103.4;PTK2B,synonymous_variant,p.=,ENST00000420218,NM_173175.2;PTK2B,synonymous_variant,p.=,ENST00000517339,;PTK2B,synonymous_variant,p.=,ENST00000397497,;PTK2B,upstream_gene_variant,,ENST00000522245,;PTK2B,upstream_gene_variant,,ENST00000482543,;	uc003xfn.1	c.2475G>A	2715/4147	1	1			c.2475G>A						8	SNP	c.(2473-2475)GAG>GAA	56	56			lung(3)|ovary(1)|skin(1)	5	Broad	PTK2B protein tyrosine kinase 2 beta isoform a			27308400		0.607	ENSG00000120899	12553	g.chr8:27308400G>A	apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			347			347	34.238829	KEEP	9	6	-1	29	23	9	6	-1	39.274844	29	23	0.206349	1	0	0	0	0	0	0	1	0	--	--		0	A			PTK2B_uc003xfo.1_Silent_p.E825E|PTK2B_uc003xfp.1_Silent_p.E825E|PTK2B_uc003xfq.1_Silent_p.E783E|PTK2B_uc003xfs.1_Silent_p.E22E	240	GBM-32-2632-TP	p.E825E	G	TCAGGCAGGAGGAGAAGTCCC	NM_173174	NP_775266	27308400	Q14289	FAK2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	30	3283	+	A	A		Ovarian(32;2.72e-05)	Silent	825			Interaction with TGFB1I1 (By similarity).			
PTK2B	2185		GRCh37	8	27301729	27301729	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000397501.1:c.2155C>T	p.Arg719Ter	p.R719*	ENST00000397501	NM_173174.2	719	Cga/Tga	0																																																																																																																																																																																																																																												
PTK7	0	broad.mit.edu	GRCh37	6	43109925	43109925	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2619-01	TCGA-19-2619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000230419.4:c.1935G>A	p.Gln645=	p.Q645=	ENST00000230419	NM_002821.4	645	caG/caA	0			1			A	Q	uc003oub.1	protein_coding		CCDS4884.1			1935/3213									ovary(2)|large_intestine(1)	3	c.(1933-1935)CAG>CAA			PROSITE_profiles:PS50835,hmmpanther:PTHR26391,hmmpanther:PTHR26391:SF14,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	PTK7 protein tyrosine kinase 7 isoform a				ENSP00000230419		13/20									COSM3411110	13/20	.		ENST00000230419	Transcript			actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	ENSG00000112655	g.chr6:43109925G>A	9618			LOW								--	--	1																																		PTK7_uc003ouc.1_Intron|PTK7_uc003oud.1_Silent_p.Q605Q|PTK7_uc003oue.1_Silent_p.Q515Q|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Silent_p.Q653Q|PTK7_uc010jyj.1_Intron	1				p.Q645Q	NM_002821	NP_002812			1	PTK7_HUMAN	PTK7	HGNC	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		F8WDG7_HUMAN		13	2133	+			UPI0000001BDB	645			Ig-like C2-type 7.|Extracellular (Potential).		SNV	PTK7,synonymous_variant,p.=,ENST00000230419,NM_002821.4;PTK7,synonymous_variant,p.=,ENST00000345201,NM_152880.3;PTK7,synonymous_variant,p.=,ENST00000349241,NM_152881.3;PTK7,synonymous_variant,p.=,ENST00000481273,NM_001270398.1;PTK7,intron_variant,,ENST00000352931,NM_152882.3;PTK7,intron_variant,,ENST00000489707,;PTK7,upstream_gene_variant,,ENST00000473339,;PTK7,downstream_gene_variant,,ENST00000481946,;PTK7,synonymous_variant,p.=,ENST00000230418,;PTK7,3_prime_UTR_variant,,ENST00000470019,;PTK7,non_coding_transcript_exon_variant,,ENST00000487673,;PTK7,upstream_gene_variant,,ENST00000493339,;PTK7,upstream_gene_variant,,ENST00000461389,;PTK7,downstream_gene_variant,,ENST00000470471,;PTK7,upstream_gene_variant,,ENST00000497957,;PTK7,upstream_gene_variant,,ENST00000494146,;PTK7,upstream_gene_variant,,ENST00000461100,;	uc003oub.1	c.1935G>A	2156/4272	1	1			c.1935G>A						6	SNP	c.(1933-1935)CAG>CAA	61	61			ovary(2)|large_intestine(1)	3	Broad	PTK7 protein tyrosine kinase 7 isoform a			43109925		0.642	ENSG00000112655	12555	g.chr6:43109925G>A	actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			398			398	8.342218	KEEP	5	6	-1	48	60	5	6	-1	25.167587	48	60	0.102804	1	0	0	0	0	0	0	1	0	--	--		0	A			PTK7_uc003ouc.1_Intron|PTK7_uc003oud.1_Silent_p.Q605Q|PTK7_uc003oue.1_Silent_p.Q515Q|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Silent_p.Q653Q|PTK7_uc010jyj.1_Intron	161	GBM-19-2619-TP	p.Q645Q	G	ACATCTTCCAGAATGGCTCCC	NM_002821	NP_002812	43109925	Q13308	PTK7_HUMAN	0	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		13	2133	+	A	A			Silent	645			Ig-like C2-type 7.|Extracellular (Potential).			
PTK7	5754		GRCh37	6	43109453	43109453	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000481273.1:c.1690C>T	p.His564Tyr	p.H564Y	ENST00000481273	NM_001270398.1	564	Cat/Tat	0																																																																																																																																																																																																																																												
PTOV1	53635		GRCh37	19	50360994	50360996	+	inframe_deletion	In_Frame_Del	DEL	CAA	CAA	-			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000391842.1:c.765_767del	p.Asn255del	p.N255del	ENST00000391842	NM_017432.3	253	gtCAAc/gtc	0																																																																																																																																																																																																																																												
PTP4A1	0	broad.mit.edu	GRCh37	6	64289185	64289185	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-4210-01	TCGA-32-4210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370651.3:c.353C>A	p.Ala118Glu	p.A118E	ENST00000370651	NM_003463.4	118	gCa/gAa	0			1			A	A/E	uc003pek.2	protein_coding	YES	CCDS4965.1			353/522										0	c.(352-354)GCA>GAA			Superfamily_domains:SSF52799,SMART_domains:SM00404,Pfam_domain:PF00782,Gene3D:3.90.190.10,hmmpanther:PTHR23339,hmmpanther:PTHR23339:SF55,PROSITE_profiles:PS50056	protein tyrosine phosphatase type IVA, member 1				ENSP00000359685		6-May									COSM3411241	6-May	.		ENST00000370651	Transcript			cell cycle|multicellular organismal development	early endosome|endoplasmic reticulum|internal side of plasma membrane|spindle	protein binding|protein tyrosine phosphatase activity	ENSG00000112245	g.chr6:64289185C>A	9634			MODERATE		1.975	medium	getma.org/?cm=msa&ty=f&p=TP4A1_HUMAN&rb=54&re=152&var=A118E	getma.org/pdb.php?prot=TP4A1_HUMAN&from=54&to=152&var=A118E	getma.org/?cm=var&var=hg19,6,64289185,C,A&fts=all	A118E	--	--	1																																		PTP4A1_uc003pel.2_Missense_Mutation_p.A118E	1	1		probably_damaging(0.995)	p.A118E	NM_003463	NP_003454		deleterious(0)	1	TP4A1_HUMAN	PTP4A1	HGNC	Q93096	TP4A1_HUMAN	Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)				7	1339	+	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		UPI00000227B8	118			Tyrosine-protein phosphatase.|Interaction with ATF5 (By similarity).		SNV	PTP4A1,missense_variant,p.Ala118Glu,ENST00000370651,NM_003463.4;PTP4A1,intron_variant,,ENST00000370650,;PTP4A1,downstream_gene_variant,,ENST00000578299,;PTP4A1,downstream_gene_variant,,ENST00000473334,;PTP4A1,downstream_gene_variant,,ENST00000470661,;	uc003pek.2	c.353C>A	1506/5088	1	1			c.353C>A						6	SNP	c.(352-354)GCA>GAA	52	52				0	Broad	protein tyrosine phosphatase type IVA, member 1			64289185		0.328	ENSG00000112245	12560	g.chr6:64289185C>A	cell cycle|multicellular organismal development	early endosome|endoplasmic reticulum|internal side of plasma membrane|spindle	protein binding|protein tyrosine phosphatase activity	Pancreas(91;1019 1502 28028 38110 51645)			Pancreas(91;1019 1502 28028 38110 51645)			-31.848949	KEEP	2	2	0.5	86	99	2	2	0.5	7.039876	86	99	0.025641	1	0	0	0	0	1	0	0	0	--	--		0	A			PTP4A1_uc003pel.2_Missense_Mutation_p.A118E	245	GBM-32-4210-TP	p.A118E	C	GTTGCCCTAGCATTAATTGAA	NM_003463	NP_003454	64289185	Q93096	TP4A1_HUMAN	0	Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)		7	1339	+	A	A	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		Missense_Mutation	118			Tyrosine-protein phosphatase.|Interaction with ATF5 (By similarity).			
PTPDC1	138639		GRCh37	9	96860365	96860365	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000288976.3:c.1511C>A	p.Thr504Lys	p.T504K	ENST00000288976	NM_001253829.1	504	aCa/aAa	0																																																																																																																																																																																																																																												
PTPN11	5781	broad.mit.edu	GRCh37	12	112910837	112910837	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0171-01	TCGA-06-0171-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000351677.2:c.846C>G	p.Ile282Met	p.I282M	ENST00000351677	NM_002834.3	282	atC/atG	0			1			G	I/M	uc001ttx.2	protein_coding	YES	CCDS9163.1			846/1782	Mis	Noonan Syndrome			JMML|AML|MDS	likely_pathogenic,pathogenic		p.I282M(1)	haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392	c.(844-846)ATC>ATG			Gene3D:3.90.190.10,Pfam_domain:PF00102,PIRSF_domain:PIRSF000929,PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF150,SMART_domains:SM00194,Superfamily_domains:SSF52799	protein tyrosine phosphatase, non-receptor type				ENSP00000340944		16-Jul									rs397507530,COSM35820	16-Jul	.	Noonan_syndrome	ENST00000351677	Transcript	1		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	ENSG00000179295	g.chr12:112910837C>G	9644			MODERATE		3.805	high	getma.org/?cm=msa&ty=f&p=PTN11_HUMAN&rb=273&re=524&var=I282M	getma.org/pdb.php?prot=PTN11_HUMAN&from=273&to=524&var=I282M	getma.org/?cm=var&var=hg19,12,112910837,C,G&fts=all	I282M	--	--	1																																		PTPN11_uc001ttw.1_Missense_Mutation_p.I282M	1,1	1		benign(0.218)	p.I282M	NM_002834	NP_002825		deleterious(0)	0,1	PTN11_HUMAN	PTPN11	HGNC	Q06124	PTN11_HUMAN			B3GUD4_HUMAN,B3GUD3_HUMAN		7	1226	+			UPI000013296E	282		I -> V (in NS1).	Tyrosine-protein phosphatase.		SNV	PTPN11,missense_variant,p.Ile282Met,ENST00000351677,NM_002834.3;PTPN11,missense_variant,p.Ile282Met,ENST00000392597,NM_080601.1;	uc001ttx.2	c.846C>G	1044/6101	4	4			c.846C>G	Mis	Noonan Syndrome			JMML|AML|MDS	12	SNP	c.(844-846)ATC>ATG	21	21		p.I282M(1)	haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392	Broad	protein tyrosine phosphatase, non-receptor type			112910837	Noonan_syndrome	0.383	ENSG00000179295	12570	g.chr12:112910837C>G	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			372			372	84.839621	KEEP	13	15	-1	46	47	13	15	-1	92.463989	46	47	0.235294	1	0	0	0	0	1	0	0	0	--	--		0	G			PTPN11_uc001ttw.1_Missense_Mutation_p.I282M	35	GBM-06-0171-TP	p.I282M	C	ataaaaacaTCCTGCCCTGTA	NM_002834	NP_002825	112910837	Q06124	PTN11_HUMAN	0			7	1226	+	G	G			Missense_Mutation	282		I -> V (in NS1).	Tyrosine-protein phosphatase.			
PTPN11	0	broad.mit.edu	GRCh37	12	112926900	112926900	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01	TCGA-14-3476-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000351677.2:c.1520C>A	p.Thr507Lys	p.T507K	ENST00000351677	NM_002834.3	507	aCa/aAa	0			1			A	T/K	uc001ttx.2	protein_coding	YES	CCDS9163.1			1520/1782	Mis	Noonan Syndrome			JMML|AML|MDS			p.T507K(3)	haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392	c.(1519-1521)ACA>AAA			Gene3D:3.90.190.10,Pfam_domain:PF00102,PIRSF_domain:PIRSF000929,Prints_domain:PR00700,PROSITE_profiles:PS50055,PROSITE_profiles:PS50056,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF150,SMART_domains:SM00194,SMART_domains:SM00404,Superfamily_domains:SSF52799	protein tyrosine phosphatase, non-receptor type				ENSP00000340944		13/16									COSM13036	13/16	.	Noonan_syndrome	ENST00000351677	Transcript	1		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	ENSG00000179295	g.chr12:112926900C>A	9644			MODERATE		4.325	high	getma.org/?cm=msa&ty=f&p=PTN11_HUMAN&rb=273&re=524&var=T511K	getma.org/pdb.php?prot=PTN11_HUMAN&from=273&to=524&var=T511K	getma.org/?cm=var&var=hg19,12,112926900,C,A&fts=all	T511K	--	--	1																																			1	1		probably_damaging(0.996)	p.T507K	NM_002834	NP_002825		deleterious(0)	1	PTN11_HUMAN	PTPN11	HGNC	Q06124	PTN11_HUMAN			B3GUD4_HUMAN,B3GUD3_HUMAN		13	1900	+			UPI000013296E	511			Tyrosine-protein phosphatase.		SNV	PTPN11,missense_variant,p.Thr507Lys,ENST00000351677,NM_002834.3;PTPN11,downstream_gene_variant,,ENST00000392597,NM_080601.1;	uc001ttx.2	c.1520C>A	1718/6101	2	2			c.1520C>A	Mis	Noonan Syndrome			JMML|AML|MDS	12	SNP	c.(1519-1521)ACA>AAA	33	33		p.T507K(3)	haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392	Broad	protein tyrosine phosphatase, non-receptor type			112926900	Noonan_syndrome	0.478	ENSG00000179295	12570	g.chr12:112926900C>A	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			372			372	-64.436931	KEEP	7	7	0.5	197	230	7	7	0.5	24.234802	197	230	0.032345	1	0	0	0	0	1	0	0	0	--	--		0	A				151	GBM-14-3476-TP	p.T507K	C	ATGGTCCAGACAGAAGCACAG	NM_002834	NP_002825	112926900	Q06124	PTN11_HUMAN	0			13	1900	+	A	A			Missense_Mutation	511			Tyrosine-protein phosphatase.			
PTPN11	0	broad.mit.edu	GRCh37	12	112926910	112926910	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-19-2620-01	TCGA-19-2620-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000351677.2:c.1530G>C	p.Gln510His	p.Q510H	ENST00000351677	NM_002834.3	510	caG/caC	0			1			C	Q/H	uc001ttx.2	protein_coding	YES	CCDS9163.1			1530/1782	Mis	Noonan Syndrome			JMML|AML|MDS	uncertain_significance,pathogenic		p.Q510K(2)|p.Q510H(1)	haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392	c.(1528-1530)CAG>CAC			Gene3D:3.90.190.10,Pfam_domain:PF00102,PIRSF_domain:PIRSF000929,Prints_domain:PR00700,PROSITE_profiles:PS50055,PROSITE_profiles:PS50056,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF150,SMART_domains:SM00194,SMART_domains:SM00404,Superfamily_domains:SSF52799	protein tyrosine phosphatase, non-receptor type				ENSP00000340944		13/16									rs397507550,COSM1318058	13/16	.	Noonan_syndrome	ENST00000351677	Transcript	1		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	ENSG00000179295	g.chr12:112926910G>C	9644			MODERATE		3.41	medium	getma.org/?cm=msa&ty=f&p=PTN11_HUMAN&rb=273&re=524&var=Q514H	getma.org/pdb.php?prot=PTN11_HUMAN&from=273&to=524&var=Q514H	getma.org/?cm=var&var=hg19,12,112926910,G,C&fts=all	Q514H	--	--	1																																			1,1	1		probably_damaging(0.968)	p.Q510H	NM_002834	NP_002825		deleterious(0)	0,1	PTN11_HUMAN	PTPN11	HGNC	Q06124	PTN11_HUMAN			B3GUD4_HUMAN,B3GUD3_HUMAN		13	1910	+			UPI000013296E	514		Q -> P (in LEOPARD1).	Tyrosine-protein phosphatase.		SNV	PTPN11,missense_variant,p.Gln510His,ENST00000351677,NM_002834.3;PTPN11,downstream_gene_variant,,ENST00000392597,NM_080601.1;	uc001ttx.2	c.1530G>C	1728/6101	3	3			c.1530G>C	Mis	Noonan Syndrome			JMML|AML|MDS	12	SNP	c.(1528-1530)CAG>CAC	13	13		p.Q510K(2)|p.Q510H(1)	haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392	Broad	protein tyrosine phosphatase, non-receptor type			112926910	Noonan_syndrome	0.493	ENSG00000179295	12570	g.chr12:112926910G>C	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding		p.Q510H(HT115-Tumor)	372		p.Q510H(HT115-Tumor)	372	175.874088	KEEP	43	16	-1	87	51	43	16	-1	181.101816	87	51	0.316092	1	0	0	0	0	1	0	0	0	--	--		0	C				162	GBM-19-2620-TP	p.Q510H	G	CAGAAGCACAGTACCGATTTA	NM_002834	NP_002825	112926910	Q06124	PTN11_HUMAN	0			13	1910	+	C	C			Missense_Mutation	514		Q -> P (in LEOPARD1).	Tyrosine-protein phosphatase.			
PTPN11	5781		GRCh37	12	112888189	112888189	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000351677.2:c.205G>A	p.Glu69Lys	p.E69K	ENST00000351677	NM_002834.3	69	Gag/Aag	0																																																																																																																																																																																																																																												
PTPN12	0	broad.mit.edu	GRCh37	7	77256938	77256938	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-12-0619-01	TCGA-12-0619-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000248594.6:c.1942A>G	p.Met648Val	p.M648V	ENST00000248594	NM_002835.3	648	Atg/Gtg	0			1			G	M/V	uc003ugh.2	protein_coding	YES	CCDS5592.1			1942/2343									ovary(1)|breast(1)|pancreas(1)	3	c.(1942-1944)ATG>GTG			PIRSF_domain:PIRSF000932	protein tyrosine phosphatase, non-receptor type				ENSP00000248594		13/18	5.77E-05			0.000233				0.000353	rs774718567,COSM2153641	13/18	.		ENST00000248594	Transcript				soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	ENSG00000127947	g.chr7:77256938A>G	9645			MODERATE		1.645	low	getma.org/?cm=msa&ty=f&p=PTN12_HUMAN&rb=493&re=668&var=M648V	NA	getma.org/?cm=var&var=hg19,7,77256938,A,G&fts=all	M648V	--	--	1																																		PTPN12_uc011kgp.1_Missense_Mutation_p.M529V|PTPN12_uc011kgq.1_Missense_Mutation_p.M518V|PTPN12_uc010lds.2_Missense_Mutation_p.M380V	0,1	1		benign(0.004)	p.M648V	NM_002835	NP_002826		deleterious(0.04)	0,1	PTN12_HUMAN	PTPN12	HGNC	Q05209	PTN12_HUMAN			F8WB51_HUMAN,E9PBR5_HUMAN,C9JJC1_HUMAN,C9J1X8_HUMAN,A4D1C5_HUMAN		13	2033	+			UPI000013CC4C	648					SNV	PTPN12,missense_variant,p.Met648Val,ENST00000248594,NM_002835.3;PTPN12,missense_variant,p.Met518Val,ENST00000435495,NM_001131009.1;PTPN12,missense_variant,p.Met529Val,ENST00000415482,NM_001131008.1;PTPN12,missense_variant,p.Met156Val,ENST00000407343,;	uc003ugh.2	c.1942A>G	2214/3406	3	3			c.1942A>G						7	SNP	c.(1942-1944)ATG>GTG	62	62			ovary(1)|breast(1)|pancreas(1)	3	Broad	protein tyrosine phosphatase, non-receptor type			77256938		0.313	ENSG00000127947	12571	g.chr7:77256938A>G		soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding							90.053755	KEEP	22	11	-1	49	44	22	11	-1	95.550239	49	44	0.261682	1	0	0	0	0	1	0	0	0	--	--		0	G			PTPN12_uc011kgp.1_Missense_Mutation_p.M529V|PTPN12_uc011kgq.1_Missense_Mutation_p.M518V|PTPN12_uc010lds.2_Missense_Mutation_p.M380V	120	GBM-12-0619-TP	p.M648V	A	AGTATTGCCAATGTCCATTGC	NM_002835	NP_002826	77256938	Q05209	PTN12_HUMAN	0			13	2033	+	G	G			Missense_Mutation	648						
PTPN13	0	broad.mit.edu	GRCh37	4	87728883	87728883	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-5134-01	TCGA-26-5134-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000411767.2:c.6916G>A	p.Ala2306Thr	p.A2306T	ENST00000411767		2306	Gcc/Acc	0			1			A	A/T	uc003hpz.2	protein_coding		CCDS47094.1			6916/7458									ovary(4)|breast(1)|kidney(1)	6	c.(6916-6918)GCC>ACC			Gene3D:3.90.190.10,Pfam_domain:PF00102,PIRSF_domain:PIRSF000933,PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF197,SMART_domains:SM00194,Superfamily_domains:SSF52799	protein tyrosine phosphatase, non-receptor type				ENSP00000407249		45/48									COSM3409599	45/48	.		ENST00000411767	Transcript				cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity	ENSG00000163629	g.chr4:87728883G>A	9646			MODERATE		3.005	medium	getma.org/?cm=msa&ty=f&p=PTN13_HUMAN&rb=2237&re=2466&var=A2306T	getma.org/pdb.php?prot=PTN13_HUMAN&from=2237&to=2466&var=A2306T	getma.org/?cm=var&var=hg19,4,87728883,G,A&fts=all	A2306T	--	--	1																																		PTPN13_uc003hpy.2_Missense_Mutation_p.A2311T|PTPN13_uc003hqa.2_Missense_Mutation_p.A2287T|PTPN13_uc003hqb.2_Missense_Mutation_p.A2115T	1			probably_damaging(0.927)	p.A2306T	NM_080683	NP_542414		deleterious(0)	1	PTN13_HUMAN	PTPN13	HGNC	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	D6R9X4_HUMAN		45	7396	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	UPI0000132973	2306			Tyrosine-protein phosphatase.		SNV	PTPN13,missense_variant,p.Ala2311Thr,ENST00000436978,NM_080685.2,NM_080683.2;PTPN13,missense_variant,p.Ala2287Thr,ENST00000427191,NM_006264.2;PTPN13,missense_variant,p.Ala2306Thr,ENST00000411767,;PTPN13,missense_variant,p.Ala2311Thr,ENST00000511467,;PTPN13,missense_variant,p.Ala2115Thr,ENST00000316707,NM_080684.2;	uc003hpz.2	c.6916G>A	6979/8119	2	2			c.6916G>A						4	SNP	c.(6916-6918)GCC>ACC	45	45			ovary(4)|breast(1)|kidney(1)	6	Broad	protein tyrosine phosphatase, non-receptor type			87728883		0.453	ENSG00000163629	12572	g.chr4:87728883G>A		cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity							298.430708	KEEP	46	61	-1	91	82	46	61	-1	301.650257	91	82	0.381679	1	0	0	0	0	1	0	0	0	--	--		0	A			PTPN13_uc003hpy.2_Missense_Mutation_p.A2311T|PTPN13_uc003hqa.2_Missense_Mutation_p.A2287T|PTPN13_uc003hqb.2_Missense_Mutation_p.A2115T	183	GBM-26-5134-TP	p.A2306T	G	CACAGTGATAGCCATGATGAC	NM_080683	NP_542414	87728883	Q12923	PTN13_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	45	7396	+	A	A		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	Missense_Mutation	2306			Tyrosine-protein phosphatase.			
PTPN13	0	broad.mit.edu	GRCh37	4	87671855	87671855	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-32-4210-01	TCGA-32-4210-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000411767.2:c.2883A>G	p.Glu961=	p.E961=	ENST00000411767		961	gaA/gaG	0			1			G	E	uc003hpz.2	protein_coding		CCDS47094.1			2883/7458									ovary(4)|breast(1)|kidney(1)	6	c.(2881-2883)GAA>GAG			PIRSF_domain:PIRSF000933,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF197	protein tyrosine phosphatase, non-receptor type				ENSP00000407249		18/48									COSM3409598	18/48	.		ENST00000411767	Transcript				cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity	ENSG00000163629	g.chr4:87671855A>G	9646			LOW								--	--	1																																		PTPN13_uc003hpy.2_Silent_p.E961E|PTPN13_uc003hqa.2_Silent_p.E961E|PTPN13_uc003hqb.2_Intron	1				p.E961E	NM_080683	NP_542414			1	PTN13_HUMAN	PTPN13	HGNC	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	D6R9X4_HUMAN		18	3363	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	UPI0000132973	961					SNV	PTPN13,synonymous_variant,p.=,ENST00000436978,NM_080685.2,NM_080683.2;PTPN13,synonymous_variant,p.=,ENST00000427191,NM_006264.2;PTPN13,synonymous_variant,p.=,ENST00000411767,;PTPN13,synonymous_variant,p.=,ENST00000511467,;PTPN13,intron_variant,,ENST00000316707,NM_080684.2;	uc003hpz.2	c.2883A>G	2946/8119	3	3			c.2883A>G						4	SNP	c.(2881-2883)GAA>GAG	5	5			ovary(4)|breast(1)|kidney(1)	6	Broad	protein tyrosine phosphatase, non-receptor type			87671855		0.438	ENSG00000163629	12572	g.chr4:87671855A>G		cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity							67.578667	KEEP	5	15	-1	28	20	5	15	-1	69.86191	28	20	0.30303	1	0	0	0	0	0	0	1	0	--	--		0	G			PTPN13_uc003hpy.2_Silent_p.E961E|PTPN13_uc003hqa.2_Silent_p.E961E|PTPN13_uc003hqb.2_Intron	245	GBM-32-4210-TP	p.E961E	A	CATGGGAGGAAAAGCCTAGAG	NM_080683	NP_542414	87671855	Q12923	PTN13_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	18	3363	+	G	G		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	Silent	961						
PTPN14	0	broad.mit.edu	GRCh37	1	214557049	214557051	+	inframe_deletion	In_Frame_Del	DEL	CCT	CCT	-			TCGA-28-2514-01	TCGA-28-2514-01	CCT	CCT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366956.5:c.2147_2149delAGG	p.Glu716del	p.E716del	ENST00000366956	NM_005401.4	716	gAGGct/gct	0			1			-	EA/A	uc001hkk.1	protein_coding	YES	CCDS1514.1			2147-2149/3564									breast(2)|ovary(1)|kidney(1)|skin(1)	5	c.(2146-2151)GAGGCT>GCT			PIRSF_domain:PIRSF000934,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF77,Low_complexity_(Seg):seg	protein tyrosine phosphatase, non-receptor type				ENSP00000355923		13/19									rs143136196,COSM251272	13/19	.		ENST00000366956	Transcript	1		lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	ENSG00000152104	g.chr1:214557049_214557051delCCT	9647			MODERATE								--	--	1																																		PTPN14_uc010pty.1_In_Frame_Del_p.E617del	0,1	1			p.E716del	NM_005401	NP_005392			0,1	PTN14_HUMAN	PTPN14	HGNC	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)			13	2418_2420	-			UPI000013DCA6	716			Poly-Glu.		deletion	PTPN14,inframe_deletion,p.Glu716del,ENST00000366956,NM_005401.4;PTPN14,3_prime_UTR_variant,,ENST00000543945,;	uc001hkk.1	c.2147_2149delAGG	2342-2344/12985	5	5			c.2147_2149delAGG						1	DEL	c.(2146-2151)GAGGCT>GCT	59	59			breast(2)|ovary(1)|kidney(1)|skin(1)	5	Broad	protein tyrosine phosphatase, non-receptor type			214557051		0.626	ENSG00000152104	12573	g.chr1:214557049_214557051delCCT	lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	Colon(92;557 1424 24372 34121 40073)			Colon(92;557 1424 24372 34121 40073)																0.05	1	1	0	1	0	0	0	0	0	--	--		0	-			PTPN14_uc010pty.1_In_Frame_Del_p.E617del	214	GBM-28-2514-TP	p.E716del	CCT	GATTCTGGAGCCTCCTCCTCCTC	NM_005401	NP_005392	214557049	Q15678	PTN14_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2418_2420	-	-	-			In_Frame_Del	716			Poly-Glu.			
PTPN14	5784		GRCh37	1	214557049	214557051	+	inframe_deletion	In_Frame_Del	DEL	CCT	CCT	-			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000366956.5:c.2147_2149del	p.Glu716del	p.E716del	ENST00000366956	NM_005401.4	716	gAGGct/gct	0																																																																																																																																																																																																																																												
PTPN14	5784		GRCh37	1	214575057	214575057	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000366956.5:c.640G>A	p.Gly214Arg	p.G214R	ENST00000366956	NM_005401.4	214	Gga/Aga	0																																																																																																																																																																																																																																												
PTPN18	0	broad.mit.edu	GRCh37	2	131128796	131128796	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01	TCGA-32-4719-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000175756.5:c.949G>A	p.Ala317Thr	p.A317T	ENST00000175756	NM_014369.3	317	Gcc/Acc	0			1			A	A/T	uc002trc.2	protein_coding	YES	CCDS2161.1			949/1383									ovary(3)|kidney(1)	4	c.(949-951)GCC>ACC			hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF223	protein tyrosine phosphatase, non-receptor type				ENSP00000175756		15-Dec									COSM2157404	15-Dec	.		ENST00000175756	Transcript				cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	ENSG00000072135	g.chr2:131128796G>A	9649			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=PTN18_HUMAN&rb=291&re=460&var=A317T	NA	getma.org/?cm=var&var=hg19,2,131128796,G,A&fts=all	A317T	--	--	1																																		PTPN18_uc002trd.2_Missense_Mutation_p.A296T|PTPN18_uc002trb.2_Missense_Mutation_p.A210T|PTPN18_uc002tre.2_5'Flank	1	1		possibly_damaging(0.743)	p.A317T	NM_014369	NP_055184		deleterious(0.03)	1	PTN18_HUMAN	PTPN18	HGNC	Q99952	PTN18_HUMAN			B4DNE5_HUMAN		12	1050	+	Colorectal(110;0.1)		UPI000013C5D0	317					SNV	PTPN18,missense_variant,p.Ala317Thr,ENST00000175756,NM_014369.3;PTPN18,missense_variant,p.Ala210Thr,ENST00000347849,NM_001142370.1;PTPN18,missense_variant,p.Ala122Thr,ENST00000409022,;PTPN18,non_coding_transcript_exon_variant,,ENST00000490812,;PTPN18,non_coding_transcript_exon_variant,,ENST00000462996,;PTPN18,non_coding_transcript_exon_variant,,ENST00000490137,;PTPN18,upstream_gene_variant,,ENST00000462321,;PTPN18,upstream_gene_variant,,ENST00000481492,;PTPN18,downstream_gene_variant,,ENST00000428843,;PTPN18,downstream_gene_variant,,ENST00000483617,;PTPN18,downstream_gene_variant,,ENST00000495400,;PTPN18,downstream_gene_variant,,ENST00000489215,;PTPN18,downstream_gene_variant,,ENST00000464576,;	uc002trc.2	c.949G>A	1050/3669	2	2			c.949G>A						2	SNP	c.(949-951)GCC>ACC	46	46			ovary(3)|kidney(1)	4	Broad	protein tyrosine phosphatase, non-receptor type			131128796		0.622	ENSG00000072135	12574	g.chr2:131128796G>A		cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity							93.546723	KEEP	16	28	-1	41	44	16	28	-1	96.077397	41	44	0.33945	1	0	0	0	0	1	0	0	0	--	--		0	A			PTPN18_uc002trd.2_Missense_Mutation_p.A296T|PTPN18_uc002trb.2_Missense_Mutation_p.A210T|PTPN18_uc002tre.2_5'Flank	248	GBM-32-4719-TP	p.A317T	G	CTACGACGATGCCCTCTTCCT	NM_014369	NP_055184	131128796	Q99952	PTN18_HUMAN	0			12	1050	+	A	A	Colorectal(110;0.1)		Missense_Mutation	317						
PTPN2	0	broad.mit.edu	GRCh37	18	12794472	12794472	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-12-0688-01	TCGA-12-0688-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309660.5:c.1053delA	p.Lys351AsnfsTer18	p.K351Nfs*18	ENST00000309660	NM_002828.3	351	aaA/aa	0			1			-	K/X	uc002krp.2	protein_coding	YES	CCDS11865.1			1053/1248									skin(2)	2	c.(1051-1053)AAAfs			PIRSF_domain:PIRSF000926,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF200	protein tyrosine phosphatase, non-receptor type				ENSP00000311857		9-Sep									COSM2153918	9-Sep	.		ENST00000309660	Transcript	1		interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding	ENSG00000175354	g.chr18:12794472delT	9650			HIGH								--	--	1																																		PTPN2_uc002krl.2_Frame_Shift_Del_p.K351fs|PTPN2_uc002krn.2_Frame_Shift_Del_p.K374fs|PTPN2_uc002kro.2_Frame_Shift_Del_p.K351fs|PTPN2_uc002krm.2_Intron	1	1			p.K351fs	NM_002828	NP_002819			1	PTN2_HUMAN	PTPN2	HGNC	P17706	PTN2_HUMAN			K7ER87_HUMAN,D3DUJ3_HUMAN		9	1247	-		Lung NSC(161;8.94e-06)	UPI000017284E	351					deletion	PTPN2,frameshift_variant,p.Lys351AsnfsTer18,ENST00000309660,NM_002828.3;PTPN2,frameshift_variant,p.Lys322AsnfsTer18,ENST00000591497,;PTPN2,frameshift_variant,p.Lys351AsnfsTer18,ENST00000327283,NM_080422.2;PTPN2,frameshift_variant,p.Lys374AsnfsTer18,ENST00000591115,NM_001207013.1;PTPN2,frameshift_variant,p.Lys100AsnfsTer18,ENST00000585666,;PTPN2,frameshift_variant,p.Lys66AsnfsTer18,ENST00000591901,;PTPN2,frameshift_variant,p.Lys110AsnfsTer18,ENST00000587703,;PTPN2,intron_variant,,ENST00000353319,NM_080423.2;	uc002krp.2	c.1053delA	1147/3467	5	5			c.1053delA						18	DEL	c.(1051-1053)AAAfs	64	64			skin(2)	2	Broad	protein tyrosine phosphatase, non-receptor type			12794472		0.428	ENSG00000175354	12575	g.chr18:12794472delT	interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding																				0.4	1	1	0	1	0	0	0	0	0	--	--		0	-			PTPN2_uc002krl.2_Frame_Shift_Del_p.K351fs|PTPN2_uc002krn.2_Frame_Shift_Del_p.K374fs|PTPN2_uc002kro.2_Frame_Shift_Del_p.K351fs|PTPN2_uc002krm.2_Intron	121	GBM-12-0688-TP	p.K351fs	T	CTCGAATACGTTTCCGTAGAG	NM_002828	NP_002819	12794472	P17706	PTN2_HUMAN	0			9	1247	-	-	-		Lung NSC(161;8.94e-06)	Frame_Shift_Del	351						
PTPN22	26191		GRCh37	1	114380721	114380721	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000359785.5:c.1301C>T	p.Ala434Val	p.A434V	ENST00000359785	NM_015967.5	434	gCa/gTa	0																																																																																																																																																																																																																																												
PTPN3	5774	broad.mit.edu	GRCh37	9	112185070	112185070	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01	TCGA-02-2486-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374541.2:c.1064G>A	p.Arg355Gln	p.R355Q	ENST00000374541	NM_001145368.1	355	cGg/cAg	0			1			T	R/Q	uc004bed.2	protein_coding	YES	CCDS6776.1			1064/2742									ovary(3)	3	c.(1063-1065)CGG>CAG			hmmpanther:PTHR19134:SF248,hmmpanther:PTHR19134,PIRSF_domain:PIRSF000927,Superfamily_domains:SSF50729	protein tyrosine phosphatase, non-receptor type				ENSP00000363667		13/26	2.47E-05					3.00E-05		6.06E-05	rs774062306,COSM1103758	13/26	.		ENST00000374541	Transcript	1		negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	ENSG00000070159	g.chr9:112185070C>T	9655			MODERATE		1.65	low	getma.org/?cm=msa&ty=f&p=PTN3_HUMAN&rb=317&re=509&var=R355Q	NA	getma.org/?cm=var&var=hg19,9,112185070,C,T&fts=all	R355Q	--	--	1																																		PTPN3_uc004beb.2_Missense_Mutation_p.R224Q|PTPN3_uc004bec.2_Intron|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Intron|PTPN3_uc011lwh.1_Intron|PTPN3_uc011lwe.1_Missense_Mutation_p.R68Q|PTPN3_uc011lwf.1_Intron	0,1	1		benign(0.005)	p.R355Q	NM_002829	NP_002820		tolerated(0.09)	0,1	PTN3_HUMAN	PTPN3	HGNC	P26045	PTN3_HUMAN			B7Z8K9_HUMAN		13	1176	-			UPI000013D2D2	355					SNV	PTPN3,missense_variant,p.Arg224Gln,ENST00000412145,NM_001145369.1,NM_001145371.1;PTPN3,missense_variant,p.Arg355Gln,ENST00000374541,NM_001145368.1,NM_002829.3;PTPN3,intron_variant,,ENST00000446349,NM_001145370.1,NM_001145372.1;PTPN3,intron_variant,,ENST00000262539,;	uc004bed.2	c.1064G>A	1169/6703	2	2			c.1064G>A						9	SNP	c.(1063-1065)CGG>CAG	24	24			ovary(3)	3	Broad	protein tyrosine phosphatase, non-receptor type			112185070		0.453	ENSG00000070159	12579	g.chr9:112185070C>T	negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity							294.09575	KEEP	56	58	-1	112	120	56	58	-1	301.683012	112	120	0.329966	1	0	0	0	0	1	0	0	0	--	--		0	T			PTPN3_uc004beb.2_Missense_Mutation_p.R224Q|PTPN3_uc004bec.2_Intron|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Intron|PTPN3_uc011lwh.1_Intron|PTPN3_uc011lwe.1_Missense_Mutation_p.R68Q|PTPN3_uc011lwf.1_Intron	8	GBM-02-2486-TP	p.R355Q	C	TAAGGATCTCCGCATGGCTGG	NM_002829	NP_002820	112185070	P26045	PTN3_HUMAN	0			13	1176	-	T	T			Missense_Mutation	355						
PTPN3	0	broad.mit.edu	GRCh37	9	112189356	112189356	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374541.2:c.875G>A	p.Arg292Gln	p.R292Q	ENST00000374541	NM_001145368.1	292	cGa/cAa	0	T:0		1			T	R/Q	uc004bed.2	protein_coding	YES	CCDS6776.1			875/2742									ovary(3)	3	c.(874-876)CGA>CAA			PROSITE_profiles:PS50057,hmmpanther:PTHR19134:SF248,hmmpanther:PTHR19134,Pfam_domain:PF09380,Gene3D:2.30.29.30,PIRSF_domain:PIRSF000927,Superfamily_domains:SSF50729	protein tyrosine phosphatase, non-receptor type			T:0.0001	ENSP00000363667		26-Dec	9.06E-05		0.000691			3.00E-05		6.06E-05	rs374370776,COSM3413234	26-Dec	common_variant		ENST00000374541	Transcript	1		negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	ENSG00000070159	g.chr9:112189356C>T	9655			MODERATE		2.46	medium	getma.org/?cm=msa&ty=f&p=PTN3_HUMAN&rb=226&re=316&var=R292Q	getma.org/pdb.php?prot=PTN3_HUMAN&from=226&to=316&var=R292Q	getma.org/?cm=var&var=hg19,9,112189356,C,T&fts=all	R292Q	--	--	1																																		PTPN3_uc004beb.2_Missense_Mutation_p.R161Q|PTPN3_uc004bec.2_Missense_Mutation_p.R161Q|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.R292Q|PTPN3_uc011lwh.1_Missense_Mutation_p.R183Q|PTPN3_uc011lwe.1_Missense_Mutation_p.R5Q|PTPN3_uc011lwf.1_Missense_Mutation_p.R5Q	0,1	1		probably_damaging(0.958)	p.R292Q	NM_002829	NP_002820		deleterious(0)	0,1	PTN3_HUMAN	PTPN3	HGNC	P26045	PTN3_HUMAN			B7Z8K9_HUMAN		12	987	-			UPI000013D2D2	292			FERM.		SNV	PTPN3,missense_variant,p.Arg161Gln,ENST00000412145,NM_001145369.1,NM_001145371.1;PTPN3,missense_variant,p.Arg161Gln,ENST00000446349,NM_001145370.1,NM_001145372.1;PTPN3,missense_variant,p.Arg292Gln,ENST00000374541,NM_001145368.1,NM_002829.3;PTPN3,missense_variant,p.Arg183Gln,ENST00000262539,;	uc004bed.2	c.875G>A	980/6703	1	1			c.875G>A						9	SNP	c.(874-876)CGA>CAA	12	12			ovary(3)	3	Broad	protein tyrosine phosphatase, non-receptor type			112189356		0.448	ENSG00000070159	12579	g.chr9:112189356C>T	negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity							166.556764	KEEP	36	27	-1	52	55	36	27	-1	169.288712	52	55	0.358974	1	0	0	0	0	1	0	0	0	--	--		0	T			PTPN3_uc004beb.2_Missense_Mutation_p.R161Q|PTPN3_uc004bec.2_Missense_Mutation_p.R161Q|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.R292Q|PTPN3_uc011lwh.1_Missense_Mutation_p.R183Q|PTPN3_uc011lwe.1_Missense_Mutation_p.R5Q|PTPN3_uc011lwf.1_Missense_Mutation_p.R5Q	269	GBM-76-4929-TP	p.R292Q	C	TTTGCAAGATCGGTAATTCAG	NM_002829	NP_002820	112189356	P26045	PTN3_HUMAN	0			12	987	-	T	T			Missense_Mutation	292			FERM.			
PTPN3	5774		GRCh37	9	112200417	112200417	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000374541.2:c.564C>T	p.Val188=	p.V188=	ENST00000374541	NM_001145368.1	188	gtC/gtT	0																																																																																																																																																																																																																																												
PTPRA	5786	broad.mit.edu	GRCh37	20	3003414	3003414	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs117251752	by1000genomes	TCGA-06-0130-01	TCGA-06-0130-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380393.3:c.1408G>A	p.Val470Met	p.V470M	ENST00000380393	NM_002836.3	470	Gtg/Atg	0		C:0	1	C:0		A	V/M	uc010zqd.1	protein_coding	YES	CCDS13038.1			1408/2409									upper_aerodigestive_tract(1)	1	c.(1441-1443)GTG>ATG			PROSITE_profiles:PS50055,PROSITE_profiles:PS50056,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF42,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00404,SMART_domains:SM00194,PIRSF_domain:PIRSF002006,PIRSF_domain:PIRSF500808,Superfamily_domains:SSF52799	protein tyrosine phosphatase, receptor type, A		C:0		ENSP00000369756	C:0.001	20/28	1.65E-05							0.000121	rs200587047,COSM2149554,COSM2149555	20/28	.		ENST00000380393	Transcript		C:0.0002	axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	ENSG00000132670	g.chr20:3003414G>A	9664			MODERATE		2.955	medium	getma.org/?cm=msa&ty=f&p=PTPRA_HUMAN&rb=265&re=500&var=V470M	getma.org/pdb.php?prot=PTPRA_HUMAN&from=265&to=500&var=V470M	getma.org/?cm=var&var=hg19,20,3003414,G,A&fts=all	V470M	--	--	1																																		PTPRA_uc002whj.2_Missense_Mutation_p.V470M|PTPRA_uc002whk.2_Missense_Mutation_p.V461M|PTPRA_uc002whl.2_Missense_Mutation_p.V461M|PTPRA_uc002whm.2_Missense_Mutation_p.V237M|PTPRA_uc002whn.2_Missense_Mutation_p.V461M|PTPRA_uc002who.2_Missense_Mutation_p.V133M	0,1,1	1		possibly_damaging(0.747)	p.V481M	NM_002836	NP_002827	C:0	deleterious(0.03)	0,1,1	PTPRA_HUMAN	PTPRA	HGNC	P18433	PTPRA_HUMAN			Q5JWG3_HUMAN,Q5JWG2_HUMAN		15	1758	+			UPI000007155E	470			Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).		SNV	PTPRA,missense_variant,p.Val461Met,ENST00000216877,NM_080840.2;PTPRA,missense_variant,p.Val470Met,ENST00000380393,NM_002836.3;PTPRA,missense_variant,p.Val326Met,ENST00000358719,;PTPRA,missense_variant,p.Val470Met,ENST00000399903,;PTPRA,missense_variant,p.Val461Met,ENST00000318266,;PTPRA,missense_variant,p.Val461Met,ENST00000356147,NM_080841.2;PTPRA,missense_variant,p.Val481Met,ENST00000425918,;	uc010zqd.1	c.1441G>A	2094/3636	2	2			c.1441G>A						20	SNP	c.(1441-1443)GTG>ATG	22	22			upper_aerodigestive_tract(1)	1	Broad	protein tyrosine phosphatase, receptor type, A			3003414		0.577	ENSG00000132670	12585	g.chr20:3003414G>A	axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity							52.63485	KEEP	11	10	-1	31	36	11	10	-1	57.58361	31	36	0.247059	1	0	0	0	0	1	0	0	0	--	--		0	A			PTPRA_uc002whj.2_Missense_Mutation_p.V470M|PTPRA_uc002whk.2_Missense_Mutation_p.V461M|PTPRA_uc002whl.2_Missense_Mutation_p.V461M|PTPRA_uc002whm.2_Missense_Mutation_p.V237M|PTPRA_uc002whn.2_Missense_Mutation_p.V461M|PTPRA_uc002who.2_Missense_Mutation_p.V133M	16	GBM-06-0130-TP	p.V481M	G	GAAGGTGGACGTGTATGGCTT	NM_002836	NP_002827	3003414	P18433	PTPRA_HUMAN	0			15	1758	+	A	A			Missense_Mutation	470			Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).			
PTPRA	0	broad.mit.edu	GRCh37	20	2969091	2969091	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01	TCGA-14-0789-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380393.3:c.709G>A	p.Asp237Asn	p.D237N	ENST00000380393	NM_002836.3	237	Gac/Aac	0			1			A	D/N	uc010zqd.1	protein_coding	YES	CCDS13038.1			709/2409									upper_aerodigestive_tract(1)	1	c.(742-744)GAC>AAC			hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF42,Gene3D:3.90.190.10,PIRSF_domain:PIRSF002006,PIRSF_domain:PIRSF500808,Superfamily_domains:SSF52799	protein tyrosine phosphatase, receptor type, A				ENSP00000369756		13/28	1.65E-05					3.01E-05			rs773334274,COSM1025528,COSM3404999	13/28	.		ENST00000380393	Transcript			axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	ENSG00000132670	g.chr20:2969091G>A	9664			MODERATE		2.555	medium	getma.org/?cm=msa&ty=f&p=PTPRA_HUMAN&rb=201&re=264&var=D237N	getma.org/pdb.php?prot=PTPRA_HUMAN&from=201&to=264&var=D237N	getma.org/?cm=var&var=hg19,20,2969091,G,A&fts=all	D237N	--	--	1																																		PTPRA_uc002whj.2_Missense_Mutation_p.D237N|PTPRA_uc010zqc.1_Missense_Mutation_p.D122N|PTPRA_uc002whk.2_Missense_Mutation_p.D228N|PTPRA_uc002whl.2_Missense_Mutation_p.D228N|PTPRA_uc002whm.2_Missense_Mutation_p.D4N|PTPRA_uc002whn.2_Missense_Mutation_p.D228N|PTPRA_uc002who.2_5'UTR	0,1,1	1		probably_damaging(0.989)	p.D248N	NM_002836	NP_002827		deleterious(0.03)	0,1,1	PTPRA_HUMAN	PTPRA	HGNC	P18433	PTPRA_HUMAN			Q5JWG3_HUMAN,Q5JWG2_HUMAN		8	1059	+			UPI000007155E	237			Cytoplasmic (Potential).		SNV	PTPRA,missense_variant,p.Asp228Asn,ENST00000216877,NM_080840.2;PTPRA,missense_variant,p.Asp237Asn,ENST00000380393,NM_002836.3;PTPRA,missense_variant,p.Asp93Asn,ENST00000358719,;PTPRA,missense_variant,p.Asp237Asn,ENST00000399903,;PTPRA,missense_variant,p.Asp228Asn,ENST00000318266,;PTPRA,missense_variant,p.Asp228Asn,ENST00000356147,NM_080841.2;PTPRA,missense_variant,p.Asp248Asn,ENST00000425918,;PTPRA,missense_variant,p.Asp228Asn,ENST00000455631,;PTPRA,downstream_gene_variant,,ENST00000430705,;	uc010zqd.1	c.742G>A	1395/3636	1	1			c.742G>A						20	SNP	c.(742-744)GAC>AAC	57	57			upper_aerodigestive_tract(1)	1	Broad	protein tyrosine phosphatase, receptor type, A			2969091		0.507	ENSG00000132670	12585	g.chr20:2969091G>A	axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity							84.371773	KEEP	16	20	-1	45	64	16	20	-1	91.762618	45	64	0.253731	1	0	0	0	0	1	0	0	0	--	--		0	A			PTPRA_uc002whj.2_Missense_Mutation_p.D237N|PTPRA_uc010zqc.1_Missense_Mutation_p.D122N|PTPRA_uc002whk.2_Missense_Mutation_p.D228N|PTPRA_uc002whl.2_Missense_Mutation_p.D228N|PTPRA_uc002whm.2_Missense_Mutation_p.D4N|PTPRA_uc002whn.2_Missense_Mutation_p.D228N|PTPRA_uc002who.2_5'UTR	136	GBM-14-0789-TP	p.D248N	G	AATGGCAGACGACAATAAGCT	NM_002836	NP_002827	2969091	P18433	PTPRA_HUMAN	0			8	1059	+	A	A			Missense_Mutation	237			Cytoplasmic (Potential).			
PTPRA	5786		GRCh37	20	3002794	3002794	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000380393.3:c.1256G>A	p.Gly419Asp	p.G419D	ENST00000380393	NM_002836.3	419	gGc/gAc	0																																																																																																																																																																																																																																												
PTPRB	5787	broad.mit.edu	GRCh37	12	70986066	70986066	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0188-01	TCGA-06-0188-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334414.6:c.1776A>C	p.Arg592Ser	p.R592S	ENST00000334414	NM_001109754.2	592	agA/agC	0			1			G	R/S	uc001swb.3	protein_coding		CCDS44944.1			1122/5994									lung(2)|skin(1)	3	c.(1120-1122)AGA>AGC			PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF219,Superfamily_domains:SSF49265	protein tyrosine phosphatase, receptor type, B				ENSP00000261266		May-32									COSM2150600,COSM2150599,COSM2150598	May-32	.		ENST00000261266	Transcript			angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	ENSG00000127329	g.chr12:70986066T>G	9665			MODERATE		2.305	medium	getma.org/?cm=msa&ty=f&p=PTPRB_HUMAN&rb=289&re=375&var=R374S	NA	getma.org/?cm=var&var=hg19,12,70986066,T,G&fts=all	R374S	--	--	1																																		PTPRB_uc010sto.1_Missense_Mutation_p.R374S|PTPRB_uc010stp.1_Missense_Mutation_p.R374S|PTPRB_uc001swc.3_Missense_Mutation_p.R592S|PTPRB_uc001swa.3_Missense_Mutation_p.R592S|PTPRB_uc001swd.3_Missense_Mutation_p.R591S|PTPRB_uc009zrr.1_Missense_Mutation_p.R471S|PTPRB_uc001swe.2_Missense_Mutation_p.R592S	1,1,1			possibly_damaging(0.905)	p.R374S	NM_002837	NP_002828		deleterious(0.04)	1,1,1	PTPRB_HUMAN	PTPRB	HGNC	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)				5	1152	-	Renal(347;0.236)		UPI00001FC788	374			Fibronectin type-III 4.|Extracellular (Potential).		SNV	PTPRB,missense_variant,p.Arg592Ser,ENST00000334414,NM_001109754.2;PTPRB,missense_variant,p.Arg374Ser,ENST00000451516,NM_001206971.1;PTPRB,missense_variant,p.Arg592Ser,ENST00000550358,;PTPRB,missense_variant,p.Arg374Ser,ENST00000261266,NM_002837.4;PTPRB,missense_variant,p.Arg374Ser,ENST00000538708,NM_001206972.1;PTPRB,missense_variant,p.Arg374Ser,ENST00000550857,;PTPRB,missense_variant,p.Arg591Ser,ENST00000551525,;PTPRB,missense_variant,p.Arg471Ser,ENST00000548122,;PTPRB,non_coding_transcript_exon_variant,,ENST00000538174,;PTPRB,non_coding_transcript_exon_variant,,ENST00000552253,;	uc001swb.3	c.1122A>C	1152/6110	4	4			c.1122A>C						12	SNP	c.(1120-1122)AGA>AGC	25	25			lung(2)|skin(1)	3	Broad	protein tyrosine phosphatase, receptor type, B			70986066		0.448	ENSG00000127329	12586	g.chr12:70986066T>G	angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity							211.772507	KEEP	34	34	-1	60	51	34	34	-1	213.163448	60	51	0.397351	1	0	0	0	0	1	0	0	0	--	--		0	G			PTPRB_uc010sto.1_Missense_Mutation_p.R374S|PTPRB_uc010stp.1_Missense_Mutation_p.R374S|PTPRB_uc001swc.3_Missense_Mutation_p.R592S|PTPRB_uc001swa.3_Missense_Mutation_p.R592S|PTPRB_uc001swd.3_Missense_Mutation_p.R591S|PTPRB_uc009zrr.1_Missense_Mutation_p.R471S|PTPRB_uc001swe.2_Missense_Mutation_p.R592S	41	GBM-06-0188-TP	p.R374S	T	ACTCACATGTTCTGCCCACTG	NM_002837	NP_002828	70986066	P23467	PTPRB_HUMAN	0	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		5	1152	-	G	G	Renal(347;0.236)		Missense_Mutation	374			Fibronectin type-III 4.|Extracellular (Potential).			
PTPRB	5787	broad.mit.edu	GRCh37	12	70949924	70949924	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-2558-01	TCGA-06-2558-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334414.6:c.4719T>C	p.Pro1573=	p.P1573=	ENST00000334414	NM_001109754.2	1573	ccT/ccC	0			1			G	P	uc001swb.3	protein_coding		CCDS44944.1			4065/5994									lung(2)|skin(1)	3	c.(4063-4065)CCT>CCC			Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF219,SMART_domains:SM00060,Superfamily_domains:SSF49265	protein tyrosine phosphatase, receptor type, B				ENSP00000261266		17/32									COSM3399061,COSM3399060,COSM3399059	17/32	.		ENST00000261266	Transcript			angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	ENSG00000127329	g.chr12:70949924A>G	9665			LOW								--	--	1																																		PTPRB_uc010sto.1_Silent_p.P1265P|PTPRB_uc010stp.1_Silent_p.P1265P|PTPRB_uc001swc.3_Silent_p.P1573P|PTPRB_uc001swa.3_Silent_p.P1485P	1,1,1				p.P1355P	NM_002837	NP_002828			1,1,1	PTPRB_HUMAN	PTPRB	HGNC	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)				17	4095	-	Renal(347;0.236)		UPI00001FC788	1355			Fibronectin type-III 16.|Extracellular (Potential).		SNV	PTPRB,synonymous_variant,p.=,ENST00000334414,NM_001109754.2;PTPRB,synonymous_variant,p.=,ENST00000451516,NM_001206971.1;PTPRB,synonymous_variant,p.=,ENST00000550358,;PTPRB,synonymous_variant,p.=,ENST00000261266,NM_002837.4;PTPRB,synonymous_variant,p.=,ENST00000550857,;PTPRB,synonymous_variant,p.=,ENST00000538708,NM_001206972.1;PTPRB,downstream_gene_variant,,ENST00000551525,;PTPRB,downstream_gene_variant,,ENST00000548122,;	uc001swb.3	c.4065T>C	4095/6110	4	4			c.4065T>C						12	SNP	c.(4063-4065)CCT>CCC	20	20			lung(2)|skin(1)	3	Broad	protein tyrosine phosphatase, receptor type, B			70949924		0.438	ENSG00000127329	12586	g.chr12:70949924A>G	angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity							-2.512158	KEEP	2	1	-1	26	28	2	1	-1	8.151529	26	28	0.057692	1	0	0	0	0	0	0	1	0	--	--		0	G			PTPRB_uc010sto.1_Silent_p.P1265P|PTPRB_uc010stp.1_Silent_p.P1265P|PTPRB_uc001swc.3_Silent_p.P1573P|PTPRB_uc001swa.3_Silent_p.P1485P	82	GBM-06-2558-TP	p.P1355P	A	GTATCTTGTCAGGCTCTAAAG	NM_002837	NP_002828	70949924	P23467	PTPRB_HUMAN	0	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		17	4095	-	G	G	Renal(347;0.236)		Silent	1355			Fibronectin type-III 16.|Extracellular (Potential).			
PTPRB	0	broad.mit.edu	GRCh37	12	70983775	70983775	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-1825-01	TCGA-14-1825-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261266.5:c.1365G>A	p.Leu455=	p.L455=	ENST00000261266	NM_002837.4	455	ttG/ttA	0			1			T	L	uc001swb.3	protein_coding		CCDS44944.1			1365/5994									lung(2)|skin(1)	3	c.(1363-1365)TTG>TTA			Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF219,SMART_domains:SM00060,Superfamily_domains:SSF49265	protein tyrosine phosphatase, receptor type, B				ENSP00000261266		Jun-32									COSM3399067,COSM3399066,COSM3399065	Jun-32	.		ENST00000261266	Transcript			angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	ENSG00000127329	g.chr12:70983775C>T	9665			LOW								--	--	1																																OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	PTPRB_uc010sto.1_Silent_p.L455L|PTPRB_uc010stp.1_Intron|PTPRB_uc001swc.3_Silent_p.L673L|PTPRB_uc001swa.3_Silent_p.L673L|PTPRB_uc001swd.3_Silent_p.L672L|PTPRB_uc009zrr.1_Silent_p.L552L	1,1,1				p.L455L	NM_002837	NP_002828			1,1,1	PTPRB_HUMAN	PTPRB	HGNC	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)				6	1395	-	Renal(347;0.236)		UPI00001FC788	455			Fibronectin type-III 5.|Extracellular (Potential).		SNV	PTPRB,synonymous_variant,p.=,ENST00000334414,NM_001109754.2;PTPRB,synonymous_variant,p.=,ENST00000550358,;PTPRB,synonymous_variant,p.=,ENST00000261266,NM_002837.4;PTPRB,synonymous_variant,p.=,ENST00000538708,NM_001206972.1;PTPRB,synonymous_variant,p.=,ENST00000551525,;PTPRB,synonymous_variant,p.=,ENST00000548122,;PTPRB,intron_variant,,ENST00000451516,NM_001206971.1;PTPRB,intron_variant,,ENST00000550857,;PTPRB,non_coding_transcript_exon_variant,,ENST00000538174,;PTPRB,downstream_gene_variant,,ENST00000552253,;	uc001swb.3	c.1365G>A	1395/6110	2	2			c.1365G>A						12	SNP	c.(1363-1365)TTG>TTA	48	48			lung(2)|skin(1)	3	Broad	protein tyrosine phosphatase, receptor type, B			70983775		0.458	ENSG00000127329	12586	g.chr12:70983775C>T	angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity							75.557726	KEEP	27	20	-1	120	83	27	20	-1	97.566602	120	83	0.177778	1	0	0	0	0	0	0	1	0	--	--		0	T	OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	PTPRB_uc010sto.1_Silent_p.L455L|PTPRB_uc010stp.1_Intron|PTPRB_uc001swc.3_Silent_p.L673L|PTPRB_uc001swa.3_Silent_p.L673L|PTPRB_uc001swd.3_Silent_p.L672L|PTPRB_uc009zrr.1_Silent_p.L552L	148	GBM-14-1825-TP	p.L455L	C	CAGAATTCTTCAAATTTCCAC	NM_002837	NP_002828	70983775	P23467	PTPRB_HUMAN	0	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		6	1395	-	T	T	Renal(347;0.236)		Silent	455			Fibronectin type-III 5.|Extracellular (Potential).			
PTPRB	0	broad.mit.edu	GRCh37	12	70974843	70974843	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-26-6174-01	TCGA-26-6174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261266.5:c.1897C>T	p.Arg633Ter	p.R633*	ENST00000261266	NM_002837.4	633	Cga/Tga	0			1			A	R/*	uc001swb.3	protein_coding		CCDS44944.1			1897/5994									lung(2)|skin(1)	3	c.(1897-1899)CGA>TGA			Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF219,Superfamily_domains:SSF49265	protein tyrosine phosphatase, receptor type, B				ENSP00000261266		Aug-32									COSM3399064,COSM3399063,COSM3399062	Aug-32	.		ENST00000261266	Transcript			angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	ENSG00000127329	g.chr12:70974843G>A	9665			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,12,70974843,G,A&fts=all	R633*	--	--	1																																		PTPRB_uc010sto.1_Nonsense_Mutation_p.R633*|PTPRB_uc010stp.1_Nonsense_Mutation_p.R543*|PTPRB_uc001swc.3_Nonsense_Mutation_p.R851*|PTPRB_uc001swa.3_Nonsense_Mutation_p.R851*|PTPRB_uc001swd.3_Nonsense_Mutation_p.R850*|PTPRB_uc009zrr.1_Nonsense_Mutation_p.R730*	1,1,1				p.R633*	NM_002837	NP_002828			1,1,1	PTPRB_HUMAN	PTPRB	HGNC	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)				8	1927	-	Renal(347;0.236)		UPI00001FC788	633			Fibronectin type-III 7.|Extracellular (Potential).		SNV	PTPRB,stop_gained,p.Arg851Ter,ENST00000334414,NM_001109754.2;PTPRB,stop_gained,p.Arg543Ter,ENST00000451516,NM_001206971.1;PTPRB,stop_gained,p.Arg851Ter,ENST00000550358,;PTPRB,stop_gained,p.Arg633Ter,ENST00000261266,NM_002837.4;PTPRB,stop_gained,p.Arg633Ter,ENST00000538708,NM_001206972.1;PTPRB,stop_gained,p.Arg543Ter,ENST00000550857,;PTPRB,stop_gained,p.Arg850Ter,ENST00000551525,;PTPRB,stop_gained,p.Arg730Ter,ENST00000548122,;PTPRB,downstream_gene_variant,,ENST00000538174,;	uc001swb.3	c.1897C>T	1927/6110	5	2			c.1897C>T						12	SNP	c.(1897-1899)CGA>TGA	28	28			lung(2)|skin(1)	3	Broad	protein tyrosine phosphatase, receptor type, B			70974843		0.468	ENSG00000127329	12586	g.chr12:70974843G>A	angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity							56.481891	KEEP	14	10	-1	41	37	14	10	-1	62.421947	41	37	0.239583	1	0	0	0	0	0	1	0	0	--	--		0	A			PTPRB_uc010sto.1_Nonsense_Mutation_p.R633*|PTPRB_uc010stp.1_Nonsense_Mutation_p.R543*|PTPRB_uc001swc.3_Nonsense_Mutation_p.R851*|PTPRB_uc001swa.3_Nonsense_Mutation_p.R851*|PTPRB_uc001swd.3_Nonsense_Mutation_p.R850*|PTPRB_uc009zrr.1_Nonsense_Mutation_p.R730*	188	GBM-26-6174-TP	p.R633*	G	ACCACTTGTCGGGAAGAGATC	NM_002837	NP_002828	70974843	P23467	PTPRB_HUMAN	0	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		8	1927	-	A	A	Renal(347;0.236)		Nonsense_Mutation	633			Fibronectin type-III 7.|Extracellular (Potential).			
PTPRB	5787		GRCh37	12	70990028	70990028	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000334414.6:c.1059T>C	p.Ser353=	p.S353=	ENST00000334414	NM_001109754.2	353	tcT/tcC	0																																																																																																																																																																																																																																												
PTPRC	5788	broad.mit.edu	GRCh37	1	198721383	198721383	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-02-0047-01	TCGA-02-0047-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000442510.2:c.3213C>T	p.Ile1071=	p.I1071=	ENST00000442510		1071	atC/atT	0			1			T	I	uc001gur.1	protein_coding	YES	CCDS1397.2			3213/3921									breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12	c.(3205-3207)ATC>ATT			Gene3D:3.90.190.10,Pfam_domain:PF00102,PIRSF_domain:PIRSF002004,PROSITE_profiles:PS50055,SMART_domains:SM00194,Superfamily_domains:SSF52799	protein tyrosine phosphatase, receptor type, C				ENSP00000411355		30/33									COSM2148991	30/33	.		ENST00000442510	Transcript	1		axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	ENSG00000081237	g.chr1:198721383C>T	9666			LOW								--	--	1																																		PTPRC_uc001gus.1_Silent_p.I1021I|PTPRC_uc001gut.1_Silent_p.I908I	1	1			p.I1069I	NM_002838	NP_002829			1		PTPRC	HGNC	P08575	PTPRC_HUMAN			M9MML3_HUMAN,Q9H3X6_HUMAN,Q6QIR3_HUMAN,Q6QIQ5_HUMAN,Q6QIN9_HUMAN,Q6QIN1_HUMAN,Q6QIM3_HUMAN,Q6LDN6_HUMAN		30	3387	+			UPI000046FDB4	1069			Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).		SNV	PTPRC,synonymous_variant,p.=,ENST00000367376,NM_002838.4;PTPRC,synonymous_variant,p.=,ENST00000352140,;PTPRC,synonymous_variant,p.=,ENST00000442510,;PTPRC,synonymous_variant,p.=,ENST00000594404,NM_080921.3;PTPRC,synonymous_variant,p.=,ENST00000348564,;	uc001gur.1	c.3207C>T	3354/5164	2	2			c.3207C>T						1	SNP	c.(3205-3207)ATC>ATT	29	29			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12	Broad	protein tyrosine phosphatase, receptor type, C			198721383		0.388	ENSG00000081237	12587	g.chr1:198721383C>T	axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			815			815	66.720253	KEEP	14	18	-1	54	62	14	18	-1	77.232766	54	62	0.208955	1	0	0	0	0	0	0	1	0	--	--		0	T			PTPRC_uc001gus.1_Silent_p.I1021I|PTPRC_uc001gut.1_Silent_p.I908I	3	GBM-02-0047-TP	p.I1069I	C	TCTAGGAAATCTGTGCTCAGT	NM_002838	NP_002829	198721383	P08575	PTPRC_HUMAN	0			30	3387	+	T	T			Silent	1069			Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).			
PTPRC	0	broad.mit.edu	GRCh37	1	198608459	198608459	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-16-1045-01	TCGA-16-1045-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000442510.2:c.61G>T	p.Val21Leu	p.V21L	ENST00000442510		21	Gta/Tta	0			1			T	V/L	uc001gur.1	protein_coding	YES	CCDS1397.2			61/3921									breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12	c.(55-57)GTA>TTA			Pfam_domain:PF12453,PIRSF_domain:PIRSF002004,Cleavage_site_(Signalp):SignalP-noTM	protein tyrosine phosphatase, receptor type, C				ENSP00000411355		Feb-33									COSM3400174	Feb-33	.		ENST00000442510	Transcript	1		axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	ENSG00000081237	g.chr1:198608459G>T	9666			MODERATE		1.525	low	getma.org/?cm=msa&ty=f&p=PTPRC_HUMAN&rb=1&re=52&var=V19L	NA	getma.org/?cm=var&var=hg19,1,198608459,G,T&fts=all	V19L	--	--	1																																		PTPRC_uc001gus.1_Missense_Mutation_p.V19L|PTPRC_uc001gut.1_Missense_Mutation_p.V19L|PTPRC_uc001guq.2_Missense_Mutation_p.V19L|PTPRC_uc009wze.1_Missense_Mutation_p.V21L|PTPRC_uc009wzf.1_Missense_Mutation_p.V21L|PTPRC_uc010ppg.1_Missense_Mutation_p.V21L|PTPRC_uc001guu.1_Missense_Mutation_p.V21L|PTPRC_uc001guv.1_RNA|PTPRC_uc001guw.1_RNA	1	1		benign(0.01)	p.V19L	NM_002838	NP_002829		tolerated_low_confidence(0.1)	1		PTPRC	HGNC	P08575	PTPRC_HUMAN			M9MML3_HUMAN,Q9H3X6_HUMAN,Q6QIR3_HUMAN,Q6QIQ5_HUMAN,Q6QIN9_HUMAN,Q6QIN1_HUMAN,Q6QIM3_HUMAN,Q6LDN6_HUMAN		2	235	+			UPI000046FDB4	19					SNV	PTPRC,missense_variant,p.Val19Leu,ENST00000367376,NM_002838.4;PTPRC,missense_variant,p.Val19Leu,ENST00000352140,;PTPRC,missense_variant,p.Val21Leu,ENST00000442510,;PTPRC,missense_variant,p.Val19Leu,ENST00000594404,NM_080921.3;PTPRC,missense_variant,p.Val21Leu,ENST00000348564,;PTPRC,missense_variant,p.Val21Leu,ENST00000367367,;PTPRC,missense_variant,p.Val21Leu,ENST00000530727,;PTPRC,missense_variant,p.Val21Leu,ENST00000413409,NM_001267798.1;PTPRC,missense_variant,p.Val19Leu,ENST00000598951,;PTPRC,missense_variant,p.Val21Leu,ENST00000367364,;PTPRC,missense_variant,p.Val21Leu,ENST00000367379,;PTPRC,missense_variant,p.Val21Leu,ENST00000418674,;PTPRC,non_coding_transcript_exon_variant,,ENST00000391970,;PTPRC,non_coding_transcript_exon_variant,,ENST00000427110,;PTPRC,missense_variant,p.Val21Leu,ENST00000529828,;PTPRC,non_coding_transcript_exon_variant,,ENST00000462363,;	uc001gur.1	c.55G>T	202/5164	2	2			c.55G>T						1	SNP	c.(55-57)GTA>TTA	21	21			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12	Broad	protein tyrosine phosphatase, receptor type, C			198608459		0.338	ENSG00000081237	12587	g.chr1:198608459G>T	axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			815			815	10.549835	KEEP	9	14	0.391304348	116	98	9	14	0.391304348	47.378529	116	98	0.088372	1	0	0	0	0	1	0	0	0	--	--		0	T			PTPRC_uc001gus.1_Missense_Mutation_p.V19L|PTPRC_uc001gut.1_Missense_Mutation_p.V19L|PTPRC_uc001guq.2_Missense_Mutation_p.V19L|PTPRC_uc009wze.1_Missense_Mutation_p.V21L|PTPRC_uc009wzf.1_Missense_Mutation_p.V21L|PTPRC_uc010ppg.1_Missense_Mutation_p.V21L|PTPRC_uc001guu.1_Missense_Mutation_p.V21L|PTPRC_uc001guv.1_RNA|PTPRC_uc001guw.1_RNA	157	GBM-16-1045-TP	p.V19L	G	GGACACAGAAGTATTTGTGAC	NM_002838	NP_002829	198608459	P08575	PTPRC_HUMAN	0			2	235	+	T	T			Missense_Mutation	19						
PTPRC	0	broad.mit.edu	GRCh37	1	198703534	198703534	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-32-1991-01	TCGA-32-1991-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000442510.2:c.2257C>A	p.Arg753=	p.R753=	ENST00000442510		753	Cga/Aga	0			1			A	R	uc001gur.1	protein_coding	YES	CCDS1397.2			2257/3921									breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12	c.(2251-2253)CGA>AGA			Gene3D:3.90.190.10,Pfam_domain:PF00102,PIRSF_domain:PIRSF002004,PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF278,SMART_domains:SM00194,Superfamily_domains:SSF52799	protein tyrosine phosphatase, receptor type, C				ENSP00000411355		22/33									COSM3400176	22/33	.		ENST00000442510	Transcript	1		axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	ENSG00000081237	g.chr1:198703534C>A	9666			LOW								--	--	1																																		PTPRC_uc001gus.1_Silent_p.R703R|PTPRC_uc001gut.1_Silent_p.R590R|PTPRC_uc010ppg.1_Silent_p.R687R	1	1			p.R751R	NM_002838	NP_002829			1		PTPRC	HGNC	P08575	PTPRC_HUMAN			M9MML3_HUMAN,Q9H3X6_HUMAN,Q6QIR3_HUMAN,Q6QIQ5_HUMAN,Q6QIN9_HUMAN,Q6QIN1_HUMAN,Q6QIM3_HUMAN,Q6LDN6_HUMAN		22	2431	+			UPI000046FDB4	751			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.		SNV	PTPRC,synonymous_variant,p.=,ENST00000367376,NM_002838.4;PTPRC,synonymous_variant,p.=,ENST00000352140,;PTPRC,synonymous_variant,p.=,ENST00000442510,;PTPRC,synonymous_variant,p.=,ENST00000594404,NM_080921.3;PTPRC,synonymous_variant,p.=,ENST00000348564,;PTPRC,synonymous_variant,p.=,ENST00000367367,;PTPRC,downstream_gene_variant,,ENST00000530727,;PTPRC,synonymous_variant,p.=,ENST00000529828,;	uc001gur.1	c.2251C>A	2398/5164	2	2			c.2251C>A						1	SNP	c.(2251-2253)CGA>AGA	32	32			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12	Broad	protein tyrosine phosphatase, receptor type, C			198703534		0.423	ENSG00000081237	12587	g.chr1:198703534C>A	axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			815			815	-186.316614	KEEP	3	4	0.571428571	435	452	3	4	0.571428571	12.368761	435	452	0.009763	1	0	0	0	0	0	0	1	0	--	--		0	A			PTPRC_uc001gus.1_Silent_p.R703R|PTPRC_uc001gut.1_Silent_p.R590R|PTPRC_uc010ppg.1_Silent_p.R687R	234	GBM-32-1991-TP	p.R751R	C	CATGGTCACTCGATGTGAAGA	NM_002838	NP_002829	198703534	P08575	PTPRC_HUMAN	0			22	2431	+	A	A			Silent	751			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.			
PTPRC	0	broad.mit.edu	GRCh37	1	198685877	198685877	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01	TCGA-32-2491-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000442510.2:c.1358C>T	p.Thr453Met	p.T453M	ENST00000442510		453	aCg/aTg	0			1			T	T/M	uc001gur.1	protein_coding	YES	CCDS1397.2			1358/3921									breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12	c.(1351-1353)ACG>ATG			Gene3D:2.60.40.10,Pfam_domain:PF00041,PIRSF_domain:PIRSF002004,PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF278,SMART_domains:SM00060,Superfamily_domains:SSF49265	protein tyrosine phosphatase, receptor type, C				ENSP00000411355		13/33	8.24E-06					1.51E-05			rs771120252,COSM3400175	13/33	.		ENST00000442510	Transcript	1		axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	ENSG00000081237	g.chr1:198685877C>T	9666			MODERATE		1.975	medium	getma.org/?cm=msa&ty=f&p=PTPRC_HUMAN&rb=391&re=465&var=T451M	getma.org/pdb.php?prot=PTPRC_HUMAN&from=391&to=465&var=T451M	getma.org/?cm=var&var=hg19,1,198685877,C,T&fts=all	T451M	--	--	1																																		PTPRC_uc001gus.1_Missense_Mutation_p.T403M|PTPRC_uc001gut.1_Missense_Mutation_p.T290M|PTPRC_uc009wzf.1_Missense_Mutation_p.T339M|PTPRC_uc010ppg.1_Missense_Mutation_p.T387M	0,1	1		probably_damaging(0.988)	p.T451M	NM_002838	NP_002829		deleterious(0)	0,1		PTPRC	HGNC	P08575	PTPRC_HUMAN			M9MML3_HUMAN,Q9H3X6_HUMAN,Q6QIR3_HUMAN,Q6QIQ5_HUMAN,Q6QIN9_HUMAN,Q6QIN1_HUMAN,Q6QIM3_HUMAN,Q6LDN6_HUMAN		13	1532	+			UPI000046FDB4	451			Extracellular (Potential).|Fibronectin type-III 1.		SNV	PTPRC,missense_variant,p.Thr451Met,ENST00000367376,NM_002838.4;PTPRC,missense_variant,p.Thr403Met,ENST00000352140,;PTPRC,missense_variant,p.Thr453Met,ENST00000442510,;PTPRC,missense_variant,p.Thr290Met,ENST00000594404,NM_080921.3;PTPRC,missense_variant,p.Thr292Met,ENST00000348564,;PTPRC,missense_variant,p.Thr387Met,ENST00000367367,;PTPRC,missense_variant,p.Thr339Met,ENST00000530727,;PTPRC,missense_variant,p.Thr405Met,ENST00000529828,;PTPRC,non_coding_transcript_exon_variant,,ENST00000491302,;	uc001gur.1	c.1352C>T	1499/5164	1	1			c.1352C>T						1	SNP	c.(1351-1353)ACG>ATG	9	9			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12	Broad	protein tyrosine phosphatase, receptor type, C			198685877		0.313	ENSG00000081237	12587	g.chr1:198685877C>T	axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			815			815	23.06231	KEEP	6	3	-1	12	11	6	3	-1	24.438062	12	11	0.28125	1	0	0	0	0	1	0	0	0	--	--		0	T			PTPRC_uc001gus.1_Missense_Mutation_p.T403M|PTPRC_uc001gut.1_Missense_Mutation_p.T290M|PTPRC_uc009wzf.1_Missense_Mutation_p.T339M|PTPRC_uc010ppg.1_Missense_Mutation_p.T387M	235	GBM-32-2491-TP	p.T451M	C	AAACCTTATACGAAATATGTT	NM_002838	NP_002829	198685877	P08575	PTPRC_HUMAN	0			13	1532	+	T	T			Missense_Mutation	451			Extracellular (Potential).|Fibronectin type-III 1.			
PTPRD	0	broad.mit.edu	GRCh37	9	8492897	8492897	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-5299-01	TCGA-12-5299-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356435.5:c.2432G>A	p.Arg811His	p.R811H	ENST00000356435		811	cGc/cAc	0		T:0	1	T:0		T	R/H	uc003zkk.2	protein_coding		CCDS43786.1			2432/5739									lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22	c.(2431-2433)CGC>CAC			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF204,Superfamily_domains:SSF49265	protein tyrosine phosphatase, receptor type, D		T:0		ENSP00000348812	T:0	16/35	6.59E-05							0.000485	rs544419494,COSM3413773,COSM3413772	16/35	common_variant		ENST00000356435	Transcript		T:0.0002	transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	ENSG00000153707	g.chr9:8492897C>T	9668			MODERATE		2.33	medium	getma.org/?cm=msa&ty=f&p=PTPRD_HUMAN&rb=713&re=812&var=R811H	getma.org/pdb.php?prot=PTPRD_HUMAN&from=713&to=812&var=R811H	getma.org/?cm=var&var=hg19,9,8492897,C,T&fts=all	R811H	--	--	1				TSP Lung(15;0.13)																														PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.R802H|PTPRD_uc003zkm.2_Missense_Mutation_p.R798H|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	0,1,1			probably_damaging(0.996)	p.R811H	NM_002839	NP_002830	T:0.001	tolerated(0.08)	0,1,1	PTPRD_HUMAN	PTPRD	HGNC	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	C9J6E4_HUMAN,B4DK48_HUMAN		26	3143	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	UPI0000132990	811			Fibronectin type-III 5.|Extracellular (Potential).		SNV	PTPRD,missense_variant,p.Arg811His,ENST00000381196,NM_002839.3;PTPRD,missense_variant,p.Arg811His,ENST00000356435,;PTPRD,missense_variant,p.Arg798His,ENST00000360074,;PTPRD,missense_variant,p.Arg789His,ENST00000358503,;PTPRD,missense_variant,p.Arg811His,ENST00000540109,;PTPRD,intron_variant,,ENST00000355233,NM_130393.3,NM_130392.3,NM_130391.3;PTPRD,intron_variant,,ENST00000397617,;PTPRD,intron_variant,,ENST00000397611,NM_001040712.2;PTPRD,intron_variant,,ENST00000537002,;PTPRD,intron_variant,,ENST00000486161,;PTPRD,intron_variant,,ENST00000397606,NM_001171025.1;PTPRD,non_coding_transcript_exon_variant,,ENST00000471274,;	uc003zkk.2	c.2432G>A	2538/9472	2	2			c.2432G>A						9	SNP	c.(2431-2433)CGC>CAC	48	48			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22	Broad	protein tyrosine phosphatase, receptor type, D			8492897		0.463	ENSG00000153707	12589	g.chr9:8492897C>T	transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			1253			1253	602.633663	KEEP	114	95	-1	16	14	114	95	-1	629.553941	16	14	0.865385	1	0	0	0	0	1	0	0	0	--	--	TSP Lung(15;0.13)	0	T			PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.R802H|PTPRD_uc003zkm.2_Missense_Mutation_p.R798H|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	130	GBM-12-5299-TP	p.R811H	C	GGGCTTGCTGCGAGCACCATC	NM_002839	NP_002830	8492897	P23468	PTPRD_HUMAN	0		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	26	3143	-	T	T		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	Missense_Mutation	811			Fibronectin type-III 5.|Extracellular (Potential).			
PTPRD	0	broad.mit.edu	GRCh37	9	8389318	8389318	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0871-01	TCGA-14-0871-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356435.5:c.4300G>A	p.Glu1434Lys	p.E1434K	ENST00000356435		1434	Gaa/Aaa	0			1			T	E/K	uc003zkk.2	protein_coding		CCDS43786.1			4300/5739									lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22	c.(4300-4302)GAA>AAA			Gene3D:3.90.190.10,Pfam_domain:PF00102,Prints_domain:PR00700,PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF204,SMART_domains:SM00194,Superfamily_domains:SSF52799	protein tyrosine phosphatase, receptor type, D				ENSP00000348812		26/35									COSM1263470,COSM1263471,COSM1263469,COSM1263468,COSM3413762,COSM3413763	26/35	.		ENST00000356435	Transcript			transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	ENSG00000153707	g.chr9:8389318C>T	9668			MODERATE		1.81	low	getma.org/?cm=msa&ty=f&p=PTPRD_HUMAN&rb=1380&re=1611&var=E1434K	getma.org/pdb.php?prot=PTPRD_HUMAN&from=1380&to=1611&var=E1434K	getma.org/?cm=var&var=hg19,9,8389318,C,T&fts=all	E1434K	--	--	1				TSP Lung(15;0.13)																														PTPRD_uc003zkp.2_Missense_Mutation_p.E1028K|PTPRD_uc003zkq.2_Missense_Mutation_p.E1027K|PTPRD_uc003zkr.2_Missense_Mutation_p.E1018K|PTPRD_uc003zks.2_Missense_Mutation_p.E1027K|PTPRD_uc003zkl.2_Missense_Mutation_p.E1425K|PTPRD_uc003zkm.2_Missense_Mutation_p.E1421K|PTPRD_uc003zkn.2_Missense_Mutation_p.E1023K|PTPRD_uc003zko.2_Missense_Mutation_p.E1024K	1,1,1,1,1,1			probably_damaging(0.995)	p.E1434K	NM_002839	NP_002830		deleterious(0)	1,1,1,1,1,1	PTPRD_HUMAN	PTPRD	HGNC	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	C9J6E4_HUMAN,B4DK48_HUMAN		36	5011	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	UPI0000132990	1434			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.		SNV	PTPRD,missense_variant,p.Glu1434Lys,ENST00000381196,NM_002839.3;PTPRD,missense_variant,p.Glu1434Lys,ENST00000356435,;PTPRD,missense_variant,p.Glu1421Lys,ENST00000360074,;PTPRD,missense_variant,p.Glu1412Lys,ENST00000358503,;PTPRD,missense_variant,p.Glu1028Lys,ENST00000355233,NM_130393.3,NM_130392.3,NM_130391.3;PTPRD,missense_variant,p.Glu1027Lys,ENST00000397617,;PTPRD,missense_variant,p.Glu1024Lys,ENST00000537002,;PTPRD,missense_variant,p.Glu1024Lys,ENST00000397611,NM_001040712.2;PTPRD,missense_variant,p.Glu1434Lys,ENST00000540109,;PTPRD,missense_variant,p.Glu1027Lys,ENST00000486161,;PTPRD,missense_variant,p.Glu1027Lys,ENST00000397606,NM_001171025.1;	uc003zkk.2	c.4300G>A	4406/9472	2	2			c.4300G>A						9	SNP	c.(4300-4302)GAA>AAA	48	48			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22	Broad	protein tyrosine phosphatase, receptor type, D			8389318		0.418	ENSG00000153707	12589	g.chr9:8389318C>T	transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			1253			1253	85.952035	KEEP	22	12	-1	43	41	22	12	-1	90.568325	43	41	0.285714	1	0	0	0	0	1	0	0	0	--	--	TSP Lung(15;0.13)	0	T			PTPRD_uc003zkp.2_Missense_Mutation_p.E1028K|PTPRD_uc003zkq.2_Missense_Mutation_p.E1027K|PTPRD_uc003zkr.2_Missense_Mutation_p.E1018K|PTPRD_uc003zks.2_Missense_Mutation_p.E1027K|PTPRD_uc003zkl.2_Missense_Mutation_p.E1425K|PTPRD_uc003zkm.2_Missense_Mutation_p.E1421K|PTPRD_uc003zkn.2_Missense_Mutation_p.E1023K|PTPRD_uc003zko.2_Missense_Mutation_p.E1024K	141	GBM-14-0871-TP	p.E1434K	C	CCAAATGTTTCGGGGAGAGAT	NM_002839	NP_002830	8389318	P23468	PTPRD_HUMAN	0		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	36	5011	-	T	T		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	Missense_Mutation	1434			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.			
PTPRD	0	broad.mit.edu	GRCh37	9	8341203	8341203	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-74-6573-01	TCGA-74-6573-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356435.5:c.5013C>G	p.Phe1671Leu	p.F1671L	ENST00000356435		1671	ttC/ttG	0			1			C	F/L	uc003zkk.2	protein_coding		CCDS43786.1			5013/5739									lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22	c.(5011-5013)TTC>TTG			Gene3D:3.90.190.10,Pfam_domain:PF00102,PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF204,SMART_domains:SM00194,Superfamily_domains:SSF52799	protein tyrosine phosphatase, receptor type, D				ENSP00000348812		30/35									COSM3413758,COSM3413761,COSM3413757,COSM3413756,COSM3413759,COSM3413760	30/35	.		ENST00000356435	Transcript			transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	ENSG00000153707	g.chr9:8341203G>C	9668			MODERATE		0.12	neutral	getma.org/?cm=msa&ty=f&p=PTPRD_HUMAN&rb=1669&re=1902&var=F1671L	getma.org/pdb.php?prot=PTPRD_HUMAN&from=1669&to=1902&var=F1671L	getma.org/?cm=var&var=hg19,9,8341203,G,C&fts=all	F1671L	--	--	1				TSP Lung(15;0.13)																														PTPRD_uc003zkp.2_Missense_Mutation_p.F1265L|PTPRD_uc003zkq.2_Missense_Mutation_p.F1264L|PTPRD_uc003zkr.2_Missense_Mutation_p.F1255L|PTPRD_uc003zks.2_Missense_Mutation_p.F1264L|PTPRD_uc003zkl.2_Missense_Mutation_p.F1662L|PTPRD_uc003zkm.2_Missense_Mutation_p.F1658L|PTPRD_uc003zkn.2_Missense_Mutation_p.F1260L|PTPRD_uc003zko.2_Missense_Mutation_p.F1261L	1,1,1,1,1,1			probably_damaging(0.945)	p.F1671L	NM_002839	NP_002830		deleterious(0)	1,1,1,1,1,1	PTPRD_HUMAN	PTPRD	HGNC	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	C9J6E4_HUMAN,B4DK48_HUMAN		40	5724	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	UPI0000132990	1671			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		SNV	PTPRD,missense_variant,p.Phe1671Leu,ENST00000381196,NM_002839.3;PTPRD,missense_variant,p.Phe1671Leu,ENST00000356435,;PTPRD,missense_variant,p.Phe1658Leu,ENST00000360074,;PTPRD,missense_variant,p.Phe1649Leu,ENST00000358503,;PTPRD,missense_variant,p.Phe1265Leu,ENST00000355233,NM_130393.3,NM_130392.3,NM_130391.3;PTPRD,missense_variant,p.Phe1264Leu,ENST00000397617,;PTPRD,missense_variant,p.Phe1261Leu,ENST00000537002,;PTPRD,missense_variant,p.Phe1261Leu,ENST00000397611,NM_001040712.2;PTPRD,missense_variant,p.Phe1671Leu,ENST00000540109,;PTPRD,missense_variant,p.Phe1264Leu,ENST00000486161,;PTPRD,missense_variant,p.Phe1264Leu,ENST00000397606,NM_001171025.1;	uc003zkk.2	c.5013C>G	5119/9472	3	3			c.5013C>G						9	SNP	c.(5011-5013)TTC>TTG	4	4			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22	Broad	protein tyrosine phosphatase, receptor type, D			8341203		0.388	ENSG00000153707	12589	g.chr9:8341203G>C	transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			1253			1253	214.450659	KEEP	42	35	-1	104	106	42	35	-1	224.593384	104	106	0.280851	1	0	0	0	0	1	0	0	0	--	--	TSP Lung(15;0.13)	0	C			PTPRD_uc003zkp.2_Missense_Mutation_p.F1265L|PTPRD_uc003zkq.2_Missense_Mutation_p.F1264L|PTPRD_uc003zkr.2_Missense_Mutation_p.F1255L|PTPRD_uc003zks.2_Missense_Mutation_p.F1264L|PTPRD_uc003zkl.2_Missense_Mutation_p.F1662L|PTPRD_uc003zkm.2_Missense_Mutation_p.F1658L|PTPRD_uc003zkn.2_Missense_Mutation_p.F1260L|PTPRD_uc003zko.2_Missense_Mutation_p.F1261L	260	GBM-74-6573-TP	p.F1671L	G	GGCGATTTTTGAATTTATTAC	NM_002839	NP_002830	8341203	P23468	PTPRD_HUMAN	0		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	40	5724	-	C	C		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	Missense_Mutation	1671			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.			
PTPRF	0	broad.mit.edu	GRCh37	1	44056912	44056912	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2625-01	TCGA-19-2625-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359947.4:c.1219C>T	p.Arg407Cys	p.R407C	ENST00000359947	NM_002840.3	407	Cgc/Tgc	0			1			T	R/C	uc001cjr.2	protein_coding	YES	CCDS489.2			1219/5724									ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	c.(1219-1221)CGC>TGC			Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF203,Superfamily_domains:SSF49265	protein tyrosine phosphatase, receptor type, F				ENSP00000353030		Sep-34	8.41E-06					3.00E-05			rs748429132,COSM1222633	Sep-34	.		ENST00000359947	Transcript	1		transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	ENSG00000142949	g.chr1:44056912C>T	9670			MODERATE		2.675	medium	getma.org/?cm=msa&ty=f&p=PTPRF_HUMAN&rb=319&re=407&var=R407C	getma.org/pdb.php?prot=PTPRF_HUMAN&from=319&to=407&var=R407C	getma.org/?cm=var&var=hg19,1,44056912,C,T&fts=all	R407C	--	--	1																																		PTPRF_uc001cjs.2_Missense_Mutation_p.R407C|PTPRF_uc001cju.2_Translation_Start_Site|PTPRF_uc009vwt.2_Translation_Start_Site|PTPRF_uc001cjv.2_Translation_Start_Site	0,1	1		benign(0.028)	p.R407C	NM_002840	NP_002831		deleterious(0.03)	0,1	PTPRF_HUMAN	PTPRF	HGNC	P10586	PTPRF_HUMAN			G1UI20_HUMAN		9	1559	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	UPI0000470154	407			Extracellular (Potential).|Fibronectin type-III 1.		SNV	PTPRF,missense_variant,p.Arg407Cys,ENST00000359947,NM_002840.3;PTPRF,missense_variant,p.Arg407Cys,ENST00000372414,;PTPRF,missense_variant,p.Arg407Cys,ENST00000372413,;PTPRF,missense_variant,p.Arg407Cys,ENST00000438120,NM_130440.2;PTPRF,missense_variant,p.Arg64Cys,ENST00000429895,;PTPRF,missense_variant,p.Arg75Cys,ENST00000412568,;PTPRF,upstream_gene_variant,,ENST00000422171,;PTPRF,upstream_gene_variant,,ENST00000414879,;PTPRF,downstream_gene_variant,,ENST00000467464,;	uc001cjr.2	c.1219C>T	1559/7727	1	1			c.1219C>T						1	SNP	c.(1219-1221)CGC>TGC	9	9			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	Broad	protein tyrosine phosphatase, receptor type, F			44056912		0.701	ENSG00000142949	12591	g.chr1:44056912C>T	transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity							19.481892	KEEP	2	6	-1	14	16	2	6	-1	22.229283	14	16	0.216216	1	0	0	0	0	1	0	0	0	--	--		0	T			PTPRF_uc001cjs.2_Missense_Mutation_p.R407C|PTPRF_uc001cju.2_Translation_Start_Site|PTPRF_uc009vwt.2_Translation_Start_Site|PTPRF_uc001cjv.2_Translation_Start_Site	165	GBM-19-2625-TP	p.R407C	C	AGTGCGGGCACGCACGGGAGA	NM_002840	NP_002831	44056912	P10586	PTPRF_HUMAN	0			9	1559	+	T	T	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	Missense_Mutation	407			Extracellular (Potential).|Fibronectin type-III 1.			
PTPRF	0	broad.mit.edu	GRCh37	1	44069848	44069848	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2519-01	TCGA-27-2519-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359947.4:c.3025C>T	p.Pro1009Ser	p.P1009S	ENST00000359947	NM_002840.3	1009	Ccg/Tcg	0			1			T	P/S	uc001cjr.2	protein_coding	YES	CCDS489.2			3025/5724									ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	c.(3025-3027)CCG>TCG			PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF203	protein tyrosine phosphatase, receptor type, F				ENSP00000353030		16/34									COSM3400814,COSM3400815	16/34	.		ENST00000359947	Transcript	1		transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	ENSG00000142949	g.chr1:44069848C>T	9670			MODERATE		-0.37	neutral	getma.org/?cm=msa&ty=f&p=PTPRF_HUMAN&rb=1001&re=1200&var=P1009S	NA	getma.org/?cm=var&var=hg19,1,44069848,C,T&fts=all	P1009S	--	--	1																																		PTPRF_uc001cjs.2_Missense_Mutation_p.P1000S|PTPRF_uc001cju.2_Intron|PTPRF_uc009vwt.2_Missense_Mutation_p.P569S|PTPRF_uc001cjv.2_Missense_Mutation_p.P469S|PTPRF_uc001cjw.2_Missense_Mutation_p.P235S	1,1	1		benign(0.007)	p.P1009S	NM_002840	NP_002831		tolerated(0.4)	1,1	PTPRF_HUMAN	PTPRF	HGNC	P10586	PTPRF_HUMAN			G1UI20_HUMAN		16	3365	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	UPI0000470154	1009			Extracellular (Potential).		SNV	PTPRF,missense_variant,p.Pro1009Ser,ENST00000359947,NM_002840.3;PTPRF,missense_variant,p.Pro1009Ser,ENST00000372414,;PTPRF,missense_variant,p.Pro1000Ser,ENST00000372413,;PTPRF,missense_variant,p.Pro1000Ser,ENST00000438120,NM_130440.2;PTPRF,missense_variant,p.Pro655Ser,ENST00000429895,;PTPRF,missense_variant,p.Pro357Ser,ENST00000422171,;PTPRF,missense_variant,p.Pro423Ser,ENST00000414879,;PTPRF,intron_variant,,ENST00000372407,;PTPRF,intron_variant,,ENST00000412568,;PTPRF,non_coding_transcript_exon_variant,,ENST00000496447,;PTPRF,upstream_gene_variant,,ENST00000463041,;	uc001cjr.2	c.3025C>T	3365/7727	2	2			c.3025C>T						1	SNP	c.(3025-3027)CCG>TCG	20	20			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	Broad	protein tyrosine phosphatase, receptor type, F			44069848		0.617	ENSG00000142949	12591	g.chr1:44069848C>T	transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity							-15.091831	KEEP	1	3	-1	52	65	1	3	-1	8.003272	52	65	0.039604	1	0	0	0	0	1	0	0	0	--	--		0	T			PTPRF_uc001cjs.2_Missense_Mutation_p.P1000S|PTPRF_uc001cju.2_Intron|PTPRF_uc009vwt.2_Missense_Mutation_p.P569S|PTPRF_uc001cjv.2_Missense_Mutation_p.P469S|PTPRF_uc001cjw.2_Missense_Mutation_p.P235S	199	GBM-27-2519-TP	p.P1009S	C	CCGGACCATGCCGGTGGAGCA	NM_002840	NP_002831	44069848	P10586	PTPRF_HUMAN	0			16	3365	+	T	T	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	Missense_Mutation	1009			Extracellular (Potential).			
PTPRF	0	broad.mit.edu	GRCh37	1	44084401	44084401	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01	TCGA-76-4928-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359947.4:c.4472G>A	p.Arg1491His	p.R1491H	ENST00000359947	NM_002840.3	1491	cGc/cAc	0	A:0		1			A	R/H	uc001cjr.2	protein_coding	YES	CCDS489.2			4472/5724									ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	c.(4471-4473)CGC>CAC			Gene3D:3.90.190.10,Pfam_domain:PF00102,PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF203,SMART_domains:SM00194,Superfamily_domains:SSF52799	protein tyrosine phosphatase, receptor type, F			A:0.0001	ENSP00000353030		26/34	1.65E-05					3.01E-05			rs375234489,COSM3400816,COSM3400817	26/34	.		ENST00000359947	Transcript	1		transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	ENSG00000142949	g.chr1:44084401G>A	9670			MODERATE		3.945	high	getma.org/?cm=msa&ty=f&p=PTPRF_HUMAN&rb=1375&re=1606&var=R1491H	getma.org/pdb.php?prot=PTPRF_HUMAN&from=1375&to=1606&var=R1491H	getma.org/?cm=var&var=hg19,1,44084401,G,A&fts=all	R1491H	--	--	1																																		PTPRF_uc001cjs.2_Missense_Mutation_p.R1482H|PTPRF_uc001cju.2_Missense_Mutation_p.R880H|PTPRF_uc009vwt.2_Missense_Mutation_p.R1051H|PTPRF_uc001cjv.2_Missense_Mutation_p.R962H|PTPRF_uc001cjw.2_Missense_Mutation_p.R717H	0,1,1	1		probably_damaging(0.991)	p.R1491H	NM_002840	NP_002831		deleterious(0)	0,1,1	PTPRF_HUMAN	PTPRF	HGNC	P10586	PTPRF_HUMAN			G1UI20_HUMAN		26	4812	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	UPI0000470154	1491			Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).		SNV	PTPRF,missense_variant,p.Arg1491His,ENST00000359947,NM_002840.3;PTPRF,missense_variant,p.Arg1491His,ENST00000372414,;PTPRF,missense_variant,p.Arg1482His,ENST00000372413,;PTPRF,missense_variant,p.Arg1482His,ENST00000438120,NM_130440.2;PTPRF,missense_variant,p.Arg1137His,ENST00000429895,;PTPRF,missense_variant,p.Arg916His,ENST00000414879,;PTPRF,missense_variant,p.Arg850His,ENST00000422171,;PTPRF,missense_variant,p.Arg563His,ENST00000372407,;PTPRF,missense_variant,p.Arg875His,ENST00000412568,;PTPRF,non_coding_transcript_exon_variant,,ENST00000496447,;PTPRF,non_coding_transcript_exon_variant,,ENST00000477970,;	uc001cjr.2	c.4472G>A	4812/7727	2	2			c.4472G>A						1	SNP	c.(4471-4473)CGC>CAC	35	35			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	Broad	protein tyrosine phosphatase, receptor type, F			44084401		0.572	ENSG00000142949	12591	g.chr1:44084401G>A	transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity							86.416585	KEEP	21	31	-1	91	92	21	31	-1	102.006309	91	92	0.211823	1	0	0	0	0	1	0	0	0	--	--		0	A			PTPRF_uc001cjs.2_Missense_Mutation_p.R1482H|PTPRF_uc001cju.2_Missense_Mutation_p.R880H|PTPRF_uc009vwt.2_Missense_Mutation_p.R1051H|PTPRF_uc001cjv.2_Missense_Mutation_p.R962H|PTPRF_uc001cjw.2_Missense_Mutation_p.R717H	268	GBM-76-4928-TP	p.R1491H	G	TACACTGTGCGCACCTTCGCA	NM_002840	NP_002831	44084401	P10586	PTPRF_HUMAN	0			26	4812	+	A	A	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	Missense_Mutation	1491			Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).			
PTPRF	5792		GRCh37	1	44086251	44086251	+	splice_donor_variant	Splice_Site	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000359947.4:c.5364+1G>A		p.X1788_splice	ENST00000359947	NM_002840.3	1788		0																																																																																																																																																																																																																																												
PTPRG	0	broad.mit.edu	GRCh37	3	61975388	61975388	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000474889.1:c.280C>T	p.Arg94Cys	p.R94C	ENST00000474889	NM_002841.3	94	Cgt/Tgt	0			1			T	R/C	uc003dlb.2	protein_coding	YES	CCDS2895.1			280/4338									ovary(5)|lung(2)	7	c.(280-282)CGT>TGT			Gene3D:3.10.200.10,Pfam_domain:PF00194,PROSITE_profiles:PS51144,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF189,SMART_domains:SM01057,Superfamily_domains:SSF51069	protein tyrosine phosphatase, receptor type, G				ENSP00000418112		30-Mar	2.47E-05			0.000116		3.00E-05			rs764140516,COSM296250	30-Mar	.		ENST00000474889	Transcript			transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	ENSG00000144724	g.chr3:61975388C>T	9671			MODERATE		1.305	low	getma.org/?cm=msa&ty=f&p=PTPRG_HUMAN&rb=60&re=321&var=R94C	getma.org/pdb.php?prot=PTPRG_HUMAN&from=60&to=321&var=R94C	getma.org/?cm=var&var=hg19,3,61975388,C,T&fts=all	R94C	--	--	1																																		PTPRG_uc003dlc.2_Missense_Mutation_p.R94C	0,1	1		possibly_damaging(0.72)	p.R94C	NM_002841	NP_002832		deleterious(0)	0,1	PTPRG_HUMAN	PTPRG	HGNC	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	O60420_HUMAN		3	999	+			UPI00001AEBFB	94			Extracellular (Potential).|Alpha-carbonic anhydrase.		SNV	PTPRG,missense_variant,p.Arg94Cys,ENST00000474889,NM_002841.3;PTPRG,missense_variant,p.Arg94Cys,ENST00000295874,;	uc003dlb.2	c.280C>T	657/9021	2	2			c.280C>T						3	SNP	c.(280-282)CGT>TGT	28	28			ovary(5)|lung(2)	7	Broad	protein tyrosine phosphatase, receptor type, G			61975388		0.488	ENSG00000144724	12592	g.chr3:61975388C>T	transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity							65.877146	KEEP	18	15	-1	59	65	18	15	-1	75.20961	59	65	0.230216	1	0	0	0	0	1	0	0	0	--	--		0	T			PTPRG_uc003dlc.2_Missense_Mutation_p.R94C	229	GBM-32-1977-TP	p.R94C	C	CCAGTATGCGCGTGTTGGGGA	NM_002841	NP_002832	61975388	P23470	PTPRG_HUMAN	0		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	3	999	+	T	T			Missense_Mutation	94			Extracellular (Potential).|Alpha-carbonic anhydrase.			
PTPRH	5794	broad.mit.edu	GRCh37	19	55708508	55708508	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01	TCGA-06-5415-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376350.3:c.1967C>T	p.Thr656Met	p.T656M	ENST00000376350	NM_002842.3	656	aCg/aTg	0			1			A	T/M	uc002qjq.2	protein_coding	YES	CCDS33110.1			1967/3348									ovary(2)|large_intestine(1)|skin(1)	4	c.(1966-1968)ACG>ATG			PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF254	protein tyrosine phosphatase, receptor type, H				ENSP00000365528		20-Sep	1.65E-05		8.66E-05					6.06E-05	rs767010813,COSM2153257	20-Sep	.		ENST00000376350	Transcript			apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	ENSG00000080031	g.chr19:55708508G>A	9672			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=PTPRH_HUMAN&rb=566&re=656&var=T656M	NA	getma.org/?cm=var&var=hg19,19,55708508,G,A&fts=all	T656M	--	--	1																																		PTPRH_uc010esv.2_Missense_Mutation_p.T478M|PTPRH_uc002qjs.2_Missense_Mutation_p.T663M	0,1	1		benign(0.066)	p.T656M	NM_002842	NP_002833			0,1	PTPRH_HUMAN	PTPRH	HGNC	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)			9	2040	-		Renal(1328;0.245)	UPI000006EDE6	656			Extracellular (Potential).|Fibronectin type-III 7.		SNV	PTPRH,missense_variant,p.Thr656Met,ENST00000376350,NM_002842.3;PTPRH,missense_variant,p.Thr478Met,ENST00000263434,NM_001161440.1;PTPRH,non_coding_transcript_exon_variant,,ENST00000588559,;	uc002qjq.2	c.1967C>T	1990/3877	2	2			c.1967C>T						19	SNP	c.(1966-1968)ACG>ATG	42	42			ovary(2)|large_intestine(1)|skin(1)	4	Broad	protein tyrosine phosphatase, receptor type, H			55708508		0.547	ENSG00000080031	12593	g.chr19:55708508G>A	apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity							52.802202	KEEP	12	16	-1	36	45	12	16	-1	58.520651	36	45	0.23913	1	0	0	0	0	1	0	0	0	--	--		0	A			PTPRH_uc010esv.2_Missense_Mutation_p.T478M|PTPRH_uc002qjs.2_Missense_Mutation_p.T663M	98	GBM-06-5415-TP	p.T656M	G	GAGGCTCTGCGTGGAACTGGC	NM_002842	NP_002833	55708508	Q9HD43	PTPRH_HUMAN	0	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	9	2040	-	A	A		Renal(1328;0.245)	Missense_Mutation	656			Extracellular (Potential).|Fibronectin type-III 7.			
PTPRH	0	broad.mit.edu	GRCh37	19	55693262	55693262	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140496718		TCGA-28-1747-01	TCGA-28-1747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376350.3:c.3208G>A	p.Val1070Ile	p.V1070I	ENST00000376350	NM_002842.3	1070	Gta/Ata	0	T:0.0002		1			T	V/I	uc002qjq.2	protein_coding	YES	CCDS33110.1			3208/3348									ovary(2)|large_intestine(1)|skin(1)	4	c.(3208-3210)GTA>ATA			PROSITE_profiles:PS50055,PROSITE_profiles:PS50056,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF254,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00194,SMART_domains:SM00404,Superfamily_domains:SSF52799,Prints_domain:PR00700	protein tyrosine phosphatase, receptor type, H			T:0.0005	ENSP00000365528		20/20	8.24E-05		0.000259			0.000105			rs140496718,COSM3404634	20/20	.		ENST00000376350	Transcript			apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	ENSG00000080031	g.chr19:55693262C>T	9672			MODERATE		-0.335	neutral	getma.org/?cm=msa&ty=f&p=PTPRH_HUMAN&rb=844&re=1078&var=V1070I	getma.org/pdb.php?prot=PTPRH_HUMAN&from=844&to=1078&var=V1070I	getma.org/?cm=var&var=hg19,19,55693262,C,T&fts=all	V1070I	--	--	1																																		PTPRH_uc010esv.2_Missense_Mutation_p.V892I|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank	0,1	1		possibly_damaging(0.899)	p.V1070I	NM_002842	NP_002833			0,1	PTPRH_HUMAN	PTPRH	HGNC	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)			20	3281	-		Renal(1328;0.245)	UPI000006EDE6	1070			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		SNV	PTPRH,missense_variant,p.Val1070Ile,ENST00000376350,NM_002842.3;PTPRH,missense_variant,p.Val892Ile,ENST00000263434,NM_001161440.1;SYT5,upstream_gene_variant,,ENST00000354308,NM_003180.2;SYT5,upstream_gene_variant,,ENST00000590851,;SYT5,upstream_gene_variant,,ENST00000537500,;SYT5,upstream_gene_variant,,ENST00000592470,;SYT5,upstream_gene_variant,,ENST00000589172,;CTD-2587H24.5,downstream_gene_variant,,ENST00000591665,;SYT5,upstream_gene_variant,,ENST00000585461,;	uc002qjq.2	c.3208G>A	3231/3877	1	1			c.3208G>A						19	SNP	c.(3208-3210)GTA>ATA	10	10			ovary(2)|large_intestine(1)|skin(1)	4	Broad	protein tyrosine phosphatase, receptor type, H			55693262		0.622	ENSG00000080031	12593	g.chr19:55693262C>T	apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity							177.224727	KEEP	40	28	-1	59	87	40	28	-1	182.520959	59	87	0.326633	1	0	0	0	0	1	0	0	0	--	--		0	T			PTPRH_uc010esv.2_Missense_Mutation_p.V892I|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank	206	GBM-28-1747-TP	p.V1070I	C	TGCAGGAATACGTACTGAGCC	NM_002842	NP_002833	55693262	Q9HD43	PTPRH_HUMAN	0	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	20	3281	-	T	T		Renal(1328;0.245)	Missense_Mutation	1070			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.			
PTPRH	0	broad.mit.edu	GRCh37	19	55693402	55693402	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-2514-01	TCGA-28-2514-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376350.3:c.3180G>A	p.Pro1060=	p.P1060=	ENST00000376350	NM_002842.3	1060	ccG/ccA	0			1			T	P	uc002qjq.2	protein_coding	YES	CCDS33110.1			3180/3348									ovary(2)|large_intestine(1)|skin(1)	4	c.(3178-3180)CCG>CCA			PROSITE_profiles:PS50055,PROSITE_profiles:PS50056,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF254,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00194,SMART_domains:SM00404,Superfamily_domains:SSF52799,Prints_domain:PR00700	protein tyrosine phosphatase, receptor type, H				ENSP00000365528		19/20	4.94E-05		0.000346			1.50E-05		6.06E-05	rs769586690,COSM3404635	19/20	.		ENST00000376350	Transcript			apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	ENSG00000080031	g.chr19:55693402C>T	9672			LOW								--	--	1																																		PTPRH_uc010esv.2_Silent_p.P882P|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank	0,1	1			p.P1060P	NM_002842	NP_002833			0,1	PTPRH_HUMAN	PTPRH	HGNC	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)			19	3253	-		Renal(1328;0.245)	UPI000006EDE6	1060			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		SNV	PTPRH,synonymous_variant,p.=,ENST00000376350,NM_002842.3;PTPRH,synonymous_variant,p.=,ENST00000263434,NM_001161440.1;SYT5,upstream_gene_variant,,ENST00000354308,NM_003180.2;SYT5,upstream_gene_variant,,ENST00000590851,;SYT5,upstream_gene_variant,,ENST00000537500,;SYT5,upstream_gene_variant,,ENST00000592470,;SYT5,upstream_gene_variant,,ENST00000589172,;CTD-2587H24.5,downstream_gene_variant,,ENST00000591665,;SYT5,upstream_gene_variant,,ENST00000585461,;	uc002qjq.2	c.3180G>A	3203/3877	1	1			c.3180G>A						19	SNP	c.(3178-3180)CCG>CCA	1	1			ovary(2)|large_intestine(1)|skin(1)	4	Broad	protein tyrosine phosphatase, receptor type, H			55693402		0.637	ENSG00000080031	12593	g.chr19:55693402C>T	apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity							206.526154	KEEP	52	48	-1	115	137	52	48	-1	219.451755	115	137	0.278912	1	0	0	0	0	0	0	1	0	--	--		0	T			PTPRH_uc010esv.2_Silent_p.P882P|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank	214	GBM-28-2514-TP	p.P1060P	C	GCACCATCAACGGCCGACTCT	NM_002842	NP_002833	55693402	Q9HD43	PTPRH_HUMAN	0	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	19	3253	-	T	T		Renal(1328;0.245)	Silent	1060			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.			
PTPRJ	5795	broad.mit.edu	GRCh37	11	48145364	48145364	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0650-01	TCGA-06-0650-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000418331.2:c.816G>A	p.Pro272=	p.P272=	ENST00000418331	NM_002843.3	272	ccG/ccA	0			1			A	P	uc001ngp.3	protein_coding	YES	CCDS7945.1			816/4014									breast(3)|kidney(3)|ovary(1)|skin(1)	8	c.(814-816)CCG>CCA			hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF211,SMART_domains:SM00060	protein tyrosine phosphatase, receptor type, J				ENSP00000400010		25-May	2.47E-05		8.66E-05			1.50E-05		6.06E-05	rs770215254,COSM1982124,COSM1982125,COSM3397732	25-May	.		ENST00000418331	Transcript			contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	ENSG00000149177	g.chr11:48145364G>A	9673			LOW								--	--	1																																		PTPRJ_uc001ngo.3_Silent_p.P272P	0,1,1,1	1			p.P272P	NM_002843	NP_002834			0,1,1,1	PTPRJ_HUMAN	PTPRJ	HGNC	Q12913	PTPRJ_HUMAN			Q9NPR5_HUMAN		5	1171	+			UPI00004564C8	272			Extracellular (Potential).|Fibronectin type-III 2.|Fibronectin type-III 3.		SNV	PTPRJ,synonymous_variant,p.=,ENST00000418331,NM_002843.3;PTPRJ,synonymous_variant,p.=,ENST00000440289,NM_001098503.1;PTPRJ,downstream_gene_variant,,ENST00000527952,;PTPRJ,downstream_gene_variant,,ENST00000534219,;PTPRJ,downstream_gene_variant,,ENST00000526550,;	uc001ngp.3	c.816G>A	1168/5122	2	2			c.816G>A						11	SNP	c.(814-816)CCG>CCA	47	47			breast(3)|kidney(3)|ovary(1)|skin(1)	8	Broad	protein tyrosine phosphatase, receptor type, J			48145364		0.473	ENSG00000149177	12594	g.chr11:48145364G>A	contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity							13.038938	KEEP	3	10	-1	29	52	3	10	-1	24.965613	29	52	0.119048	1	0	0	0	0	0	0	1	0	--	--		0	A			PTPRJ_uc001ngo.3_Silent_p.P272P	63	GBM-06-0650-TP	p.P272P	G	ACATCAACCCGTATCTTCTAC	NM_002843	NP_002834	48145364	Q12913	PTPRJ_HUMAN	0			5	1171	+	A	A			Silent	272			Extracellular (Potential).|Fibronectin type-III 2.|Fibronectin type-III 3.			
PTPRJ	0	broad.mit.edu	GRCh37	11	48134462	48134462	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2494-01	TCGA-32-2494-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000418331.2:c.279C>T	p.Asn93=	p.N93=	ENST00000418331	NM_002843.3	93	aaC/aaT	0			1			T	N	uc001ngp.3	protein_coding	YES	CCDS7945.1			279/4014									breast(3)|kidney(3)|ovary(1)|skin(1)	8	c.(277-279)AAC>AAT				protein tyrosine phosphatase, receptor type, J				ENSP00000400010		25-Mar									rs776211910,COSM3397729,COSM3397730,COSM3397731	25-Mar	.		ENST00000418331	Transcript			contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	ENSG00000149177	g.chr11:48134462C>T	9673			LOW								--	--	1																																		PTPRJ_uc001ngo.3_Silent_p.N93N	0,1,1,1	1			p.N93N	NM_002843	NP_002834			0,1,1,1	PTPRJ_HUMAN	PTPRJ	HGNC	Q12913	PTPRJ_HUMAN			Q9NPR5_HUMAN		3	634	+			UPI00004564C8	93			Extracellular (Potential).		SNV	PTPRJ,synonymous_variant,p.=,ENST00000418331,NM_002843.3;PTPRJ,synonymous_variant,p.=,ENST00000440289,NM_001098503.1;PTPRJ,synonymous_variant,p.=,ENST00000527952,;PTPRJ,intron_variant,,ENST00000534219,;PTPRJ,non_coding_transcript_exon_variant,,ENST00000526550,;	uc001ngp.3	c.279C>T	631/5122	2	2			c.279C>T						11	SNP	c.(277-279)AAC>AAT	17	17			breast(3)|kidney(3)|ovary(1)|skin(1)	8	Broad	protein tyrosine phosphatase, receptor type, J			48134462		0.453	ENSG00000149177	12594	g.chr11:48134462C>T	contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity							-14.085706	KEEP	2	2	-1	40	57	2	2	-1	7.877616	40	57	0.041237	1	0	0	0	0	0	0	1	0	--	--		0	T			PTPRJ_uc001ngo.3_Silent_p.N93N	236	GBM-32-2494-TP	p.N93N	C	CTGGAGCCAACGATAGTTTAA	NM_002843	NP_002834	48134462	Q12913	PTPRJ_HUMAN	0			3	634	+	T	T			Silent	93			Extracellular (Potential).			
PTPRJ	5795		GRCh37	11	48185118	48185118	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000418331.2:c.3667C>T	p.Arg1223Cys	p.R1223C	ENST00000418331	NM_002843.3	1223	Cgt/Tgt	0																																																																																																																																																																																																																																												
PTPRK	5796	broad.mit.edu	GRCh37	6	128388894	128388894	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0124-01	TCGA-06-0124-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368213.5:c.1927A>G	p.Lys643Glu	p.K643E	ENST00000368213	NM_001135648.1	643	Aag/Gag	0	C:0		1			C	K/E	uc003qbk.2	protein_coding					1927/4320									ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8	c.(1927-1929)AAG>GAG			hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF209	protein tyrosine phosphatase, receptor type, K			C:0.0001	ENSP00000357198		30-Dec	8.24E-06					1.52E-05			rs370400586,COSM2149282,COSM2149281,COSM3410581	30-Dec	.		ENST00000368215	Transcript			cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	ENSG00000152894	g.chr6:128388894T>C	9674			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=PTPRK_HUMAN&rb=597&re=680&var=K643E	NA	getma.org/?cm=var&var=hg19,6,128388894,T,C&fts=all	K643E	--	--	1																																		PTPRK_uc003qbj.2_Missense_Mutation_p.K643E|PTPRK_uc010kfc.2_Missense_Mutation_p.K643E|PTPRK_uc011ebu.1_Missense_Mutation_p.K643E|PTPRK_uc003qbl.1_Missense_Mutation_p.K513E|PTPRK_uc011ebv.1_Missense_Mutation_p.K643E	0,1,1,1			benign(0.024)	p.K643E	NM_002844	NP_002835		deleterious(0.04)	0,1,1,1	PTPRK_HUMAN	PTPRK	HGNC	Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)			12	2294	-			UPI0000148ED1	643			Extracellular (Potential).|Fibronectin type-III 4.	Cleavage (Probable).	SNV	PTPRK,missense_variant,p.Lys643Glu,ENST00000368227,;PTPRK,missense_variant,p.Lys643Glu,ENST00000368226,NM_002844.3;PTPRK,missense_variant,p.Lys643Glu,ENST00000368213,NM_001135648.1;PTPRK,missense_variant,p.Lys643Glu,ENST00000532331,;PTPRK,missense_variant,p.Lys643Glu,ENST00000368210,;PTPRK,missense_variant,p.Lys643Glu,ENST00000368207,;PTPRK,missense_variant,p.Lys643Glu,ENST00000368215,;PTPRK,upstream_gene_variant,,ENST00000415046,;RP11-103C16.2,intron_variant,,ENST00000417390,;PTPRK,non_coding_transcript_exon_variant,,ENST00000524481,;PTPRK,non_coding_transcript_exon_variant,,ENST00000524534,;PTPRK,upstream_gene_variant,,ENST00000434424,;PTPRK,3_prime_UTR_variant,,ENST00000531050,;	uc003qbk.2	c.1927A>G	1927/4651	4	4			c.1927A>G						6	SNP	c.(1927-1929)AAG>GAG	35	35			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8	Broad	protein tyrosine phosphatase, receptor type, K			128388894		0.448	ENSG00000152894	12595	g.chr6:128388894T>C	cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity							94.645947	KEEP	23	18	-1	63	37	23	18	-1	100.150712	63	37	0.28125	1	0	0	0	0	1	0	0	0	--	--		0	C			PTPRK_uc003qbj.2_Missense_Mutation_p.K643E|PTPRK_uc010kfc.2_Missense_Mutation_p.K643E|PTPRK_uc011ebu.1_Missense_Mutation_p.K643E|PTPRK_uc003qbl.1_Missense_Mutation_p.K513E|PTPRK_uc011ebv.1_Missense_Mutation_p.K643E	11	GBM-06-0124-TP	p.K643E	T	GCTTCTCTCTTGGTTCGGTGT	NM_002844	NP_002835	128388894	Q15262	PTPRK_HUMAN	0		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	12	2294	-	C	C			Missense_Mutation	643			Extracellular (Potential).|Fibronectin type-III 4.	Cleavage (Probable).		
PTPRM	0	broad.mit.edu	GRCh37	18	7888281	7888281	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-15-0742-01	TCGA-15-0742-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332175.8:c.374T>A	p.Leu125Gln	p.L125Q	ENST00000332175	NM_002845.3	125	cTg/cAg	0			1			A	L/Q	uc002knn.3	protein_coding		CCDS11840.1			374/4359									lung(3)|ovary(2)|central_nervous_system(1)	6	c.(373-375)CTG>CAG			Pfam_domain:PF00629,PROSITE_profiles:PS50060,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF206,SMART_domains:SM00137,Superfamily_domains:SSF49899	protein tyrosine phosphatase, receptor type, M				ENSP00000331418		31-Mar									COSM3403690,COSM3403691	31-Mar	.		ENST00000332175	Transcript			homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	ENSG00000173482	g.chr18:7888281T>A	9675			MODERATE		0.675	neutral	getma.org/?cm=msa&ty=f&p=PTPRM_HUMAN&rb=27&re=184&var=L125Q	getma.org/pdb.php?prot=PTPRM_HUMAN&from=27&to=184&var=L125Q	getma.org/?cm=var&var=hg19,18,7888281,T,A&fts=all	L125Q	--	--	1																																		PTPRM_uc010dkv.2_Missense_Mutation_p.L125Q	1,1			benign(0.051)	p.L125Q	NM_002845	NP_002836		tolerated(0.39)	1,1	PTPRM_HUMAN	PTPRM	HGNC	P28827	PTPRM_HUMAN			Q49AC9_HUMAN,E7EPS8_HUMAN		3	877	+		Colorectal(10;0.234)	UPI00002019A9	125			MAM.|Extracellular (Potential).		SNV	PTPRM,missense_variant,p.Leu125Gln,ENST00000332175,NM_002845.3;PTPRM,missense_variant,p.Leu125Gln,ENST00000580170,NM_001105244.1;PTPRM,missense_variant,p.Leu63Gln,ENST00000400053,;PTPRM,missense_variant,p.Leu125Gln,ENST00000400060,;	uc002knn.3	c.374T>A	1411/6095	1	1			c.374T>A						18	SNP	c.(373-375)CTG>CAG	64	64			lung(3)|ovary(2)|central_nervous_system(1)	6	Broad	protein tyrosine phosphatase, receptor type, M			7888281		0.453	ENSG00000173482	12596	g.chr18:7888281T>A	homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity							277.264043	KEEP	54	41	-1	80	50	54	41	-1	278.400844	80	50	0.421053	1	0	0	0	0	1	0	0	0	--	--		0	A			PTPRM_uc010dkv.2_Missense_Mutation_p.L125Q	153	GBM-15-0742-TP	p.L125Q	T	AACGGGCCACTGGGGAATCCT	NM_002845	NP_002836	7888281	P28827	PTPRM_HUMAN	0			3	877	+	A	A		Colorectal(10;0.234)	Missense_Mutation	125			MAM.|Extracellular (Potential).			
PTPRN	0	broad.mit.edu	GRCh37	2	220159756	220159756	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-16-0861-01	TCGA-16-0861-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295718.2:c.2616C>T	p.Phe872=	p.F872=	ENST00000295718	NM_002846.3	872	ttC/ttT	0			1			A	F	uc002vkz.2	protein_coding	YES	CCDS2440.1			2616/2940									ovary(2)|lung(1)|skin(1)	4	c.(2614-2616)TTC>TTT			Gene3D:3.90.190.10,Pfam_domain:PF00102,Prints_domain:PR00700,PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF2,SMART_domains:SM00194,SMART_domains:SM00404,Superfamily_domains:SSF52799	protein tyrosine phosphatase, receptor type, N				ENSP00000295718		19/23									COSM3407591	19/23	.		ENST00000295718	Transcript			response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	ENSG00000054356	g.chr2:220159756G>A	9676			LOW								--	--	1																																		PTPRN_uc010zlc.1_Silent_p.F782F|PTPRN_uc002vla.2_Silent_p.F843F|uc010zld.1_5'Flank|MIR153-1_hsa-mir-153-1|MI0000463_5'Flank	1	1			p.F872F	NM_002846	NP_002837			1	PTPRN_HUMAN	PTPRN	HGNC	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	Q96IA0_HUMAN,Q7KZS4_HUMAN,C9JJL7_HUMAN,C9JCQ0_HUMAN,C9J392_HUMAN		19	2705	-		Renal(207;0.0474)	UPI0000132999	872			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		SNV	PTPRN,synonymous_variant,p.=,ENST00000295718,NM_002846.3;PTPRN,synonymous_variant,p.=,ENST00000409251,NM_001199763.1;PTPRN,synonymous_variant,p.=,ENST00000423636,NM_001199764.1;PTPRN,synonymous_variant,p.=,ENST00000443981,;MIR153-1,upstream_gene_variant,,ENST00000384914,;AC114803.3,upstream_gene_variant,,ENST00000417355,;PTPRN,splice_region_variant,,ENST00000497977,;PTPRN,non_coding_transcript_exon_variant,,ENST00000462351,;PTPRN,upstream_gene_variant,,ENST00000460801,;PTPRN,downstream_gene_variant,,ENST00000489650,;PTPRN,downstream_gene_variant,,ENST00000486480,;	uc002vkz.2	c.2616C>T	2857/3784	2	2			c.2616C>T						2	SNP	c.(2614-2616)TTC>TTT	17	17			ovary(2)|lung(1)|skin(1)	4	Broad	protein tyrosine phosphatase, receptor type, N			220159756		0.687	ENSG00000054356	12597	g.chr2:220159756G>A	response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity							14.306129	KEEP	2	7	-1	12	16	2	7	-1	16.449746	12	16	0.225806	1	0	0	0	0	0	0	1	0	--	--		0	A			PTPRN_uc010zlc.1_Silent_p.F782F|PTPRN_uc002vla.2_Silent_p.F843F|uc010zld.1_5'Flank|MIR153-1_hsa-mir-153-1|MI0000463_5'Flank	156	GBM-16-0861-TP	p.F872F	G	GCCAGCTGAGGAAGTGGAACT	NM_002846	NP_002837	220159756	Q16849	PTPRN_HUMAN	0		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	19	2705	-	A	A		Renal(207;0.0474)	Silent	872			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.			
PTPRN2	5799	broad.mit.edu	GRCh37	7	157370776	157370776	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389418.4:c.2553C>T	p.Asn851=	p.N851=	ENST00000389418	NM_002847.3	851	aaC/aaT	0			1			A	N	uc003wno.2	protein_coding	YES	CCDS5947.1			2553/3048									ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	c.(2551-2553)AAC>AAT			Gene3D:3.90.190.10,Pfam_domain:PF00102,PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF2,SMART_domains:SM00194,Superfamily_domains:SSF52799	protein tyrosine phosphatase, receptor type, N				ENSP00000374069		18/23									COSM3411868,COSM3411869	18/23	.		ENST00000389418	Transcript				integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	ENSG00000155093	g.chr7:157370776G>A	9677			LOW								--	--	1																																		PTPRN2_uc003wnp.2_Silent_p.N834N|PTPRN2_uc003wnq.2_Silent_p.N822N|PTPRN2_uc003wnr.2_Silent_p.N813N|PTPRN2_uc011kwa.1_Silent_p.N874N	1,1	1			p.N851N	NM_002847	NP_002838			1,1	PTPR2_HUMAN	PTPRN2	HGNC	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	Q9NSR5_HUMAN		18	2674	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	UPI000002E7C7	851			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		SNV	PTPRN2,synonymous_variant,p.=,ENST00000389413,NM_130843.2;PTPRN2,synonymous_variant,p.=,ENST00000409483,;PTPRN2,synonymous_variant,p.=,ENST00000389418,NM_002847.3;PTPRN2,synonymous_variant,p.=,ENST00000389416,NM_130842.2;PTPRN2,synonymous_variant,p.=,ENST00000404321,;MIR153-2,upstream_gene_variant,,ENST00000385225,;	uc003wno.2	c.2553C>T	2563/4706	2	2			c.2553C>T						7	SNP	c.(2551-2553)AAC>AAT	17	17			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	Broad	protein tyrosine phosphatase, receptor type, N			157370776		0.622	ENSG00000155093	12598	g.chr7:157370776G>A		integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity							-19.140929	KEEP	4	5	-1	79	105	4	5	-1	17.277494	79	105	0.052326	1	0	0	0	0	0	0	1	0	--	--		0	A			PTPRN2_uc003wnp.2_Silent_p.N834N|PTPRN2_uc003wnq.2_Silent_p.N822N|PTPRN2_uc003wnr.2_Silent_p.N813N|PTPRN2_uc011kwa.1_Silent_p.N874N	102	GBM-06-5858-TP	p.N851N	G	GCCGGACGCCGTTCTCCGCGA	NM_002847	NP_002838	157370776	Q92932	PTPR2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	18	2674	-	A	A	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	Silent	851			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.			
PTPRN2	5799		GRCh37	7	157475460	157475460	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000389418.4:c.1958G>A	p.Gly653Glu	p.G653E	ENST00000389418	NM_002847.3	653	gGa/gAa	0																																																																																																																																																																																																																																												
PTPRN2	5799		GRCh37	7	157985120	157985120	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000389418.4:c.448G>A	p.Ala150Thr	p.A150T	ENST00000389418	NM_002847.3	150	Gcc/Acc	0																																																																																																																																																																																																																																												
PTPRO	5800	broad.mit.edu	GRCh37	12	15654855	15654855	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281171.4:c.963C>T	p.Tyr321=	p.Y321=	ENST00000281171	NM_030667.2	321	taC/taT	0			1			T	Y	uc001rcv.1	protein_coding	YES	CCDS8675.1			963/3651									skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9	c.(961-963)TAC>TAT			hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF251	receptor-type protein tyrosine phosphatase O				ENSP00000281171		27-May	4.12E-05					7.50E-05			rs199991892,COSM2003215	27-May	.		ENST00000281171	Transcript	1			integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	ENSG00000151490	g.chr12:15654855C>T	9678			LOW								--	--	1																																		PTPRO_uc001rcw.1_Silent_p.Y321Y|PTPRO_uc001rcu.1_Silent_p.Y321Y	0,1	1			p.Y321Y	NM_030667	NP_109592			0,1	PTPRO_HUMAN	PTPRO	HGNC	Q16827	PTPRO_HUMAN			B4DS16_HUMAN		5	1137	+		Hepatocellular(102;0.244)	UPI000013DC62	321			Extracellular (Potential).		SNV	PTPRO,synonymous_variant,p.=,ENST00000281171,NM_030667.2;PTPRO,synonymous_variant,p.=,ENST00000348962,NM_002848.3;PTPRO,synonymous_variant,p.=,ENST00000543886,;	uc001rcv.1	c.963C>T	1293/5301	1	1			c.963C>T						12	SNP	c.(961-963)TAC>TAT	5	5			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9	Broad	receptor-type protein tyrosine phosphatase O			15654855		0.448	ENSG00000151490	12599	g.chr12:15654855C>T		integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity							61.092086	KEEP	7	18	-1	25	36	7	18	-1	64.642792	25	36	0.280488	1	0	0	0	0	0	0	1	0	--	--		0	T			PTPRO_uc001rcw.1_Silent_p.Y321Y|PTPRO_uc001rcu.1_Silent_p.Y321Y	65	GBM-06-0743-TP	p.Y321Y	C	CCATGGAATACGAAAATAACA	NM_030667	NP_109592	15654855	Q16827	PTPRO_HUMAN	0			5	1137	+	T	T		Hepatocellular(102;0.244)	Silent	321			Extracellular (Potential).			
PTPRR	5801	broad.mit.edu	GRCh37	12	71094985	71094985	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-2563-01	TCGA-06-2563-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283228.2:c.1126C>A	p.Arg376=	p.R376=	ENST00000283228	NM_002849.3	376	Cga/Aga	0			1			T	R	uc001swi.1	protein_coding	YES	CCDS8998.1			1126/1974									skin(2)|ovary(1)	3	c.(1126-1128)CGA>AGA			hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF41,PIRSF_domain:PIRSF001997,Superfamily_domains:SSF52799,Prints_domain:PR01778	protein tyrosine phosphatase, receptor type, R				ENSP00000283228		14-Jul									COSM2152895	14-Jul	.		ENST00000283228	Transcript			in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	ENSG00000153233	g.chr12:71094985G>T	9680			LOW								--	--	1																																		PTPRR_uc001swh.1_Silent_p.R131R|PTPRR_uc009zrs.2_Silent_p.R225R|PTPRR_uc010stq.1_Silent_p.R264R|PTPRR_uc010str.1_Silent_p.R225R	1	1			p.R376R	NM_002849	NP_002840			1	PTPRR_HUMAN	PTPRR	HGNC	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	Q68CP6_HUMAN,F8VVE9_HUMAN		7	1542	-			UPI000013DD2F	376			Cytoplasmic (Potential).		SNV	PTPRR,synonymous_variant,p.=,ENST00000283228,NM_002849.3;PTPRR,synonymous_variant,p.=,ENST00000440835,NM_130846.2;PTPRR,synonymous_variant,p.=,ENST00000378778,NM_001207016.1;PTPRR,synonymous_variant,p.=,ENST00000342084,NM_001207015.1;PTPRR,synonymous_variant,p.=,ENST00000549308,;PTPRR,synonymous_variant,p.=,ENST00000550661,;PTPRR,non_coding_transcript_exon_variant,,ENST00000548220,;PTPRR,intron_variant,,ENST00000551219,;	uc001swi.1	c.1126C>A	1579/3529	1	1			c.1126C>A						12	SNP	c.(1126-1128)CGA>AGA	1	1			skin(2)|ovary(1)	3	Broad	protein tyrosine phosphatase, receptor type, R			71094985		0.458	ENSG00000153233	12600	g.chr12:71094985G>T	in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity							146.422219	KEEP	25	23	0.520833333	40	43	25	23	0.520833333	148.136363	40	43	0.373984	1	0	0	0	0	0	0	1	0	--	--		0	T			PTPRR_uc001swh.1_Silent_p.R131R|PTPRR_uc009zrs.2_Silent_p.R225R|PTPRR_uc010stq.1_Silent_p.R264R|PTPRR_uc010str.1_Silent_p.R225R	86	GBM-06-2563-TP	p.R376R	G	GTGAGAATTCGGCTGGCTGAC	NM_002849	NP_002840	71094985	Q15256	PTPRR_HUMAN	0	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	7	1542	-	T	T			Silent	376			Cytoplasmic (Potential).			
PTPRR	0	broad.mit.edu	GRCh37	12	71286523	71286523	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6391-01	TCGA-06-6391-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283228.2:c.293C>T	p.Ala98Val	p.A98V	ENST00000283228	NM_002849.3	98	gCc/gTc	0			1			A	A/V	uc001swi.1	protein_coding	YES	CCDS8998.1			293/1974									skin(2)|ovary(1)	3	c.(292-294)GCC>GTC			hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF41,PIRSF_domain:PIRSF001997	protein tyrosine phosphatase, receptor type, R				ENSP00000283228		14-Feb										14-Feb	.		ENST00000283228	Transcript			in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	ENSG00000153233	g.chr12:71286523G>A	9680			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=PTPRR_HUMAN&rb=1&re=200&var=A98V	NA	getma.org/?cm=var&var=hg19,12,71286523,G,A&fts=all	A98V	--	--	1																																				1		probably_damaging(0.997)	p.A98V	NM_002849	NP_002840		tolerated_low_confidence(0.06)		PTPRR_HUMAN	PTPRR	HGNC	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	Q68CP6_HUMAN,F8VVE9_HUMAN		2	709	-			UPI000013DD2F	98			Extracellular (Potential).		SNV	PTPRR,missense_variant,p.Ala98Val,ENST00000283228,NM_002849.3;	uc001swi.1	c.293C>T	746/3529	1	1			c.293C>T						12	SNP	c.(292-294)GCC>GTC	61	61			skin(2)|ovary(1)	3	Broad	protein tyrosine phosphatase, receptor type, R			71286523		0.458	ENSG00000153233	12600	g.chr12:71286523G>A	in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity							100.756416	KEEP	21	31	-1	102	131	21	31	-1	124.743166	102	131	0.185328	1	0	0	0	0	1	0	0	0	--	--		0	A				107	GBM-06-6391-TP	p.A98V	G	ACCATCCATGGCCAGCAGATT	NM_002849	NP_002840	71286523	Q15256	PTPRR_HUMAN	0	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	2	709	-	A	A			Missense_Mutation	98			Extracellular (Potential).			
PTPRR	0	broad.mit.edu	GRCh37	12	71286587	71286587	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283228.2:c.229C>T	p.Arg77Cys	p.R77C	ENST00000283228	NM_002849.3	77	Cgc/Tgc	0			1			A	R/C	uc001swi.1	protein_coding	YES	CCDS8998.1			229/1974									skin(2)|ovary(1)	3	c.(229-231)CGC>TGC			PIRSF_domain:PIRSF001997	protein tyrosine phosphatase, receptor type, R				ENSP00000283228		14-Feb	2.47E-05		8.66E-05					0.000121	rs775822570,COSM3399071	14-Feb	.		ENST00000283228	Transcript			in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	ENSG00000153233	g.chr12:71286587G>A	9680			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=PTPRR_HUMAN&rb=1&re=200&var=R77C	NA	getma.org/?cm=var&var=hg19,12,71286587,G,A&fts=all	R77C	--	--	1																																			0,1	1		benign(0.121)	p.R77C	NM_002849	NP_002840		tolerated_low_confidence(0.07)	0,1	PTPRR_HUMAN	PTPRR	HGNC	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	Q68CP6_HUMAN,F8VVE9_HUMAN		2	645	-			UPI000013DD2F	77			Extracellular (Potential).		SNV	PTPRR,missense_variant,p.Arg77Cys,ENST00000283228,NM_002849.3;	uc001swi.1	c.229C>T	682/3529	2	2			c.229C>T						12	SNP	c.(229-231)CGC>TGC	30	30			skin(2)|ovary(1)	3	Broad	protein tyrosine phosphatase, receptor type, R			71286587		0.448	ENSG00000153233	12600	g.chr12:71286587G>A	in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity							35.626017	KEEP	21	18	-1	156	157	21	18	-1	83.526538	156	157	0.111801	1	0	0	0	0	1	0	0	0	--	--		0	A				213	GBM-28-2513-TP	p.R77C	G	ATCTGGTGGCGTTTGCTTACT	NM_002849	NP_002840	71286587	Q15256	PTPRR_HUMAN	0	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	2	645	-	A	A			Missense_Mutation	77			Extracellular (Potential).			
PTPRR	5801		GRCh37	12	71078010	71078010	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000283228.2:c.1394C>T	p.Thr465Met	p.T465M	ENST00000283228	NM_002849.3	465	aCg/aTg	0																																																																																																																																																																																																																																												
PTPRS	5802	broad.mit.edu	GRCh37	19	5211663	5211663	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-02-2483-01	TCGA-02-2483-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357368.4:c.5172G>A	p.Leu1724=	p.L1724=	ENST00000357368	NM_002850.3	1724	ctG/ctA	0			1			T	L	uc002mbv.2	protein_coding	YES	CCDS45930.1			5172/5847									large_intestine(2)|ovary(1)|central_nervous_system(1)	4	c.(5170-5172)CTG>CTA			Gene3D:3.90.190.10,Pfam_domain:PF00102,PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF204,SMART_domains:SM00194,Superfamily_domains:SSF52799	protein tyrosine phosphatase, receptor type,				ENSP00000349932		33/38									COSM3404511	33/38	.		ENST00000357368	Transcript			cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	ENSG00000105426	g.chr19:5211663C>T	9681			LOW								--	--	1																																		PTPRS_uc002mbu.1_Silent_p.L1293L|PTPRS_uc010xin.1_Silent_p.L1266L|PTPRS_uc002mbw.2_Silent_p.L1686L|PTPRS_uc002mbx.2_Silent_p.L1281L|PTPRS_uc002mby.2_Silent_p.L1277L	1	1			p.L1724L	NM_002850	NP_002841			1	PTPRS_HUMAN	PTPRS	HGNC	Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	K7ESP0_HUMAN,K7ERX4_HUMAN		33	5406	-			UPI000059D63E	1724			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		SNV	PTPRS,synonymous_variant,p.=,ENST00000372412,;PTPRS,synonymous_variant,p.=,ENST00000357368,NM_002850.3;PTPRS,synonymous_variant,p.=,ENST00000262963,;PTPRS,synonymous_variant,p.=,ENST00000348075,NM_130854.2;PTPRS,synonymous_variant,p.=,ENST00000587303,;PTPRS,synonymous_variant,p.=,ENST00000353284,NM_130853.2,NM_130855.2;PTPRS,synonymous_variant,p.=,ENST00000588012,;PTPRS,synonymous_variant,p.=,ENST00000592099,;PTPRS,non_coding_transcript_exon_variant,,ENST00000588552,;PTPRS,downstream_gene_variant,,ENST00000589851,;	uc002mbv.2	c.5172G>A	5406/7347	1	1			c.5172G>A						19	SNP	c.(5170-5172)CTG>CTA	10	10			large_intestine(2)|ovary(1)|central_nervous_system(1)	4	Broad	protein tyrosine phosphatase, receptor type,			5211663		0.552	ENSG00000105426	12601	g.chr19:5211663C>T	cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity							-17.673328	KEEP	0	4	-1	46	68	0	4	-1	7.387679	46	68	0.037037	1	0	0	0	0	0	0	1	0	--	--		0	T			PTPRS_uc002mbu.1_Silent_p.L1293L|PTPRS_uc010xin.1_Silent_p.L1266L|PTPRS_uc002mbw.2_Silent_p.L1686L|PTPRS_uc002mbx.2_Silent_p.L1281L|PTPRS_uc002mby.2_Silent_p.L1277L	6	GBM-02-2483-TP	p.L1724L	C	GGATGGGTTGCAGACAGACCC	NM_002850	NP_002841	5211663	Q13332	PTPRS_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	33	5406	-	T	T			Silent	1724			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.			
PTPRS	5802	broad.mit.edu	GRCh37	19	5221107	5221107	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-2559-01	TCGA-06-2559-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357368.4:c.3359A>G	p.Asn1120Ser	p.N1120S	ENST00000357368	NM_002850.3	1120	aAc/aGc	0			1			C	N/S	uc002mbv.2	protein_coding	YES	CCDS45930.1			3359/5847									large_intestine(2)|ovary(1)|central_nervous_system(1)	4	c.(3358-3360)AAC>AGC			PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF204,Superfamily_domains:SSF49265	protein tyrosine phosphatase, receptor type,				ENSP00000349932		20/38	2.47E-05	9.63E-05				3.01E-05			rs372506721,COSM2152679	20/38	.		ENST00000357368	Transcript			cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	ENSG00000105426	g.chr19:5221107T>C	9681			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=PTPRS_HUMAN&rb=1023&re=1222&var=N1120S	NA	getma.org/?cm=var&var=hg19,19,5221107,T,C&fts=all	N1120S	--	--	1																																		PTPRS_uc002mbu.1_Missense_Mutation_p.N689S|PTPRS_uc010xin.1_Missense_Mutation_p.N689S|PTPRS_uc002mbw.2_Missense_Mutation_p.N1098S|PTPRS_uc002mbx.2_Missense_Mutation_p.N693S|PTPRS_uc002mby.2_Missense_Mutation_p.N689S	0,1	1		benign(0.034)	p.N1120S	NM_002850	NP_002841		tolerated(0.09)	0,1	PTPRS_HUMAN	PTPRS	HGNC	Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	K7ESP0_HUMAN,K7ERX4_HUMAN		20	3593	-			UPI000059D63E	1120			Extracellular (Potential).		SNV	PTPRS,missense_variant,p.Asn1121Ser,ENST00000372412,;PTPRS,missense_variant,p.Asn1120Ser,ENST00000357368,NM_002850.3;PTPRS,missense_variant,p.Asn1116Ser,ENST00000262963,;PTPRS,missense_variant,p.Asn1098Ser,ENST00000348075,NM_130854.2;PTPRS,missense_variant,p.Asn1120Ser,ENST00000587303,;PTPRS,missense_variant,p.Asn689Ser,ENST00000353284,NM_130853.2,NM_130855.2;PTPRS,missense_variant,p.Asn1098Ser,ENST00000588012,;PTPRS,missense_variant,p.Asn689Ser,ENST00000592099,;PTPRS,non_coding_transcript_exon_variant,,ENST00000588552,;PTPRS,upstream_gene_variant,,ENST00000589851,;	uc002mbv.2	c.3359A>G	3593/7347	3	3			c.3359A>G						19	SNP	c.(3358-3360)AAC>AGC	1	1			large_intestine(2)|ovary(1)|central_nervous_system(1)	4	Broad	protein tyrosine phosphatase, receptor type,			5221107		0.622	ENSG00000105426	12601	g.chr19:5221107T>C	cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity							159.781926	KEEP	28	34	-1	43	45	28	34	-1	161.105932	43	45	0.38843	1	0	0	0	0	1	0	0	0	--	--		0	C			PTPRS_uc002mbu.1_Missense_Mutation_p.N689S|PTPRS_uc010xin.1_Missense_Mutation_p.N689S|PTPRS_uc002mbw.2_Missense_Mutation_p.N1098S|PTPRS_uc002mbx.2_Missense_Mutation_p.N693S|PTPRS_uc002mby.2_Missense_Mutation_p.N689S	83	GBM-06-2559-TP	p.N1120S	T	GTTGAGCAGGTTGAAGGCAGT	NM_002850	NP_002841	5221107	Q13332	PTPRS_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	20	3593	-	C	C			Missense_Mutation	1120			Extracellular (Potential).			
PTPRS	0	broad.mit.edu	GRCh37	19	5221104	5221104	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-26-6174-01	TCGA-26-6174-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357368.4:c.3362T>G	p.Leu1121Arg	p.L1121R	ENST00000357368	NM_002850.3	1121	cTg/cGg	0			1			C	L/R	uc002mbv.2	protein_coding	YES	CCDS45930.1			3362/5847									large_intestine(2)|ovary(1)|central_nervous_system(1)	4	c.(3361-3363)CTG>CGG			hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF204,Superfamily_domains:SSF49265	protein tyrosine phosphatase, receptor type,				ENSP00000349932		20/38									COSM3404514	20/38	.		ENST00000357368	Transcript			cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	ENSG00000105426	g.chr19:5221104A>C	9681			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=PTPRS_HUMAN&rb=1023&re=1222&var=L1121R	NA	getma.org/?cm=var&var=hg19,19,5221104,A,C&fts=all	L1121R	--	--	1																																		PTPRS_uc002mbu.1_Missense_Mutation_p.L690R|PTPRS_uc010xin.1_Missense_Mutation_p.L690R|PTPRS_uc002mbw.2_Missense_Mutation_p.L1099R|PTPRS_uc002mbx.2_Missense_Mutation_p.L694R|PTPRS_uc002mby.2_Missense_Mutation_p.L690R	1	1		benign(0.183)	p.L1121R	NM_002850	NP_002841		deleterious(0)	1	PTPRS_HUMAN	PTPRS	HGNC	Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	K7ESP0_HUMAN,K7ERX4_HUMAN		20	3596	-			UPI000059D63E	1121			Extracellular (Potential).		SNV	PTPRS,missense_variant,p.Leu1122Arg,ENST00000372412,;PTPRS,missense_variant,p.Leu1121Arg,ENST00000357368,NM_002850.3;PTPRS,missense_variant,p.Leu1117Arg,ENST00000262963,;PTPRS,missense_variant,p.Leu1099Arg,ENST00000348075,NM_130854.2;PTPRS,missense_variant,p.Leu1121Arg,ENST00000587303,;PTPRS,missense_variant,p.Leu690Arg,ENST00000353284,NM_130853.2,NM_130855.2;PTPRS,missense_variant,p.Leu1099Arg,ENST00000588012,;PTPRS,missense_variant,p.Leu690Arg,ENST00000592099,;PTPRS,non_coding_transcript_exon_variant,,ENST00000588552,;PTPRS,upstream_gene_variant,,ENST00000589851,;	uc002mbv.2	c.3362T>G	3596/7347	4	4			c.3362T>G						19	SNP	c.(3361-3363)CTG>CGG	43	43			large_intestine(2)|ovary(1)|central_nervous_system(1)	4	Broad	protein tyrosine phosphatase, receptor type,			5221104		0.622	ENSG00000105426	12601	g.chr19:5221104A>C	cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity							38.132161	KEEP	12	9	-1	64	37	12	9	-1	47.754097	64	37	0.188679	1	0	0	0	0	1	0	0	0	--	--		0	C			PTPRS_uc002mbu.1_Missense_Mutation_p.L690R|PTPRS_uc010xin.1_Missense_Mutation_p.L690R|PTPRS_uc002mbw.2_Missense_Mutation_p.L1099R|PTPRS_uc002mbx.2_Missense_Mutation_p.L694R|PTPRS_uc002mby.2_Missense_Mutation_p.L690R	188	GBM-26-6174-TP	p.L1121R	A	GCCGTTGAGCAGGTTGAAGGC	NM_002850	NP_002841	5221104	Q13332	PTPRS_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	20	3596	-	C	C			Missense_Mutation	1121			Extracellular (Potential).			
PTPRS	0	broad.mit.edu	GRCh37	19	5273496	5273496	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-87-5896-01	TCGA-87-5896-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357368.4:c.336G>A	p.Ser112=	p.S112=	ENST00000357368	NM_002850.3	112	tcG/tcA	0		T:0	1	T:0		T	S	uc002mbv.2	protein_coding	YES	CCDS45930.1			336/5847									large_intestine(2)|ovary(1)|central_nervous_system(1)	4	c.(334-336)TCG>TCA			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF204,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	protein tyrosine phosphatase, receptor type,		T:0		ENSP00000349932	T:0	Apr-38	4.94E-05					1.50E-05		0.000303	rs528468686,COSM3404520	Apr-38	.		ENST00000357368	Transcript		T:0.0006	cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	ENSG00000105426	g.chr19:5273496C>T	9681			LOW								--	--	1																																		PTPRS_uc002mbu.1_Silent_p.S112S|PTPRS_uc010xin.1_Silent_p.S112S|PTPRS_uc002mbw.2_Silent_p.S112S|PTPRS_uc002mbx.2_Silent_p.S112S|PTPRS_uc002mby.2_Silent_p.S112S|PTPRS_uc002mbz.1_Silent_p.S112S	0,1	1			p.S112S	NM_002850	NP_002841	T:0.0031		0,1	PTPRS_HUMAN	PTPRS	HGNC	Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	K7ESP0_HUMAN,K7ERX4_HUMAN		4	570	-			UPI000059D63E	112			Ig-like C2-type 1.|Extracellular (Potential).		SNV	PTPRS,synonymous_variant,p.=,ENST00000372412,;PTPRS,synonymous_variant,p.=,ENST00000357368,NM_002850.3;PTPRS,synonymous_variant,p.=,ENST00000262963,;PTPRS,synonymous_variant,p.=,ENST00000348075,NM_130854.2;PTPRS,synonymous_variant,p.=,ENST00000587303,;PTPRS,synonymous_variant,p.=,ENST00000353284,NM_130853.2,NM_130855.2;PTPRS,synonymous_variant,p.=,ENST00000588012,;PTPRS,synonymous_variant,p.=,ENST00000592099,;PTPRS,synonymous_variant,p.=,ENST00000590509,;PTPRS,downstream_gene_variant,,ENST00000591760,;PTPRS,downstream_gene_variant,,ENST00000586065,;PTPRS,non_coding_transcript_exon_variant,,ENST00000588552,;RPL32P34,upstream_gene_variant,,ENST00000486380,;	uc002mbv.2	c.336G>A	570/7347	1	1			c.336G>A						19	SNP	c.(334-336)TCG>TCA	10	10			large_intestine(2)|ovary(1)|central_nervous_system(1)	4	Broad	protein tyrosine phosphatase, receptor type,			5273496		0.587	ENSG00000105426	12601	g.chr19:5273496C>T	cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity							48.924855	KEEP	10	9	-1	22	25	10	9	-1	51.217321	22	25	0.295082	1	0	0	0	0	0	0	1	0	--	--		0	T			PTPRS_uc002mbu.1_Silent_p.S112S|PTPRS_uc010xin.1_Silent_p.S112S|PTPRS_uc002mbw.2_Silent_p.S112S|PTPRS_uc002mbx.2_Silent_p.S112S|PTPRS_uc002mby.2_Silent_p.S112S|PTPRS_uc002mbz.1_Silent_p.S112S	291	GBM-87-5896-TP	p.S112S	C	TCTCCCCAACCGAGTTCTGGG	NM_002850	NP_002841	5273496	Q13332	PTPRS_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	4	570	-	T	T			Silent	112			Ig-like C2-type 1.|Extracellular (Potential).			
PTPRT	11122	broad.mit.edu	GRCh37	20	41306674	41306674	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0644-01	TCGA-06-0644-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373198.4:c.985A>G	p.Thr329Ala	p.T329A	ENST00000373198	NM_133170.3	329	Acc/Gcc	0			1			C	T/A	uc002xkg.2	protein_coding	YES	CCDS42874.1			985/4326									skin(8)|ovary(7)|lung(5)	20	c.(985-987)ACC>GCC			PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	protein tyrosine phosphatase, receptor type, T				ENSP00000362283		31-Jul									COSM2151238,COSM3405091	31-Jul	.		ENST00000373187	Transcript			homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	ENSG00000196090	g.chr20:41306674T>C	9682			MODERATE		0.22	neutral	getma.org/?cm=msa&ty=f&p=PTPRT_HUMAN&rb=290&re=374&var=T329A	getma.org/pdb.php?prot=PTPRT_HUMAN&from=290&to=374&var=T329A	getma.org/?cm=var&var=hg19,20,41306674,T,C&fts=all	T329A	--	--	1																																		PTPRT_uc010ggj.2_Missense_Mutation_p.T329A	1,1	1		possibly_damaging(0.815)	p.T329A	NM_007050	NP_008981		tolerated(0.32)	1,1	PTPRT_HUMAN	PTPRT	HGNC	O14522	PTPRT_HUMAN					7	1169	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	UPI0000246C03	329			Extracellular (Potential).|Fibronectin type-III 1.		SNV	PTPRT,missense_variant,p.Thr329Ala,ENST00000373198,NM_133170.3;PTPRT,missense_variant,p.Thr329Ala,ENST00000373201,;PTPRT,missense_variant,p.Thr329Ala,ENST00000373193,NM_007050.5;PTPRT,missense_variant,p.Thr329Ala,ENST00000373190,;PTPRT,missense_variant,p.Thr329Ala,ENST00000373184,;PTPRT,missense_variant,p.Thr329Ala,ENST00000356100,;PTPRT,missense_variant,p.Thr329Ala,ENST00000373187,;	uc002xkg.2	c.985A>G	985/12453	3	3			c.985A>G						20	SNP	c.(985-987)ACC>GCC	63	63			skin(8)|ovary(7)|lung(5)	20	Broad	protein tyrosine phosphatase, receptor type, T			41306674		0.557	ENSG00000196090	12602	g.chr20:41306674T>C	homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			646			646	112.3714	KEEP	18	31	-1	63	77	18	31	-1	121.106533	63	77	0.264368	1	0	0	0	0	1	0	0	0	--	--		0	C			PTPRT_uc010ggj.2_Missense_Mutation_p.T329A	58	GBM-06-0644-TP	p.T329A	T	CCTGTGGTGGTGCGATATTCC	NM_007050	NP_008981	41306674	O14522	PTPRT_HUMAN	0			7	1169	-	C	C		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	Missense_Mutation	329			Extracellular (Potential).|Fibronectin type-III 1.			
PTPRT	0	broad.mit.edu	GRCh37	20	40911144	40911144	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2629-01	TCGA-19-2629-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373187.1:c.2161C>T	p.Arg721Cys	p.R721C	ENST00000373187		721	Cgt/Tgt	0			1			A	R/C	uc002xkg.2	protein_coding	YES	CCDS42874.1			2161/4326									skin(8)|ovary(7)|lung(5)	20	c.(2161-2163)CGT>TGT			hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208	protein tyrosine phosphatase, receptor type, T				ENSP00000362283		13/31	8.28E-06					1.50E-05			rs776134993,COSM2156344,COSM3405085	13/31	.		ENST00000373187	Transcript			homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	ENSG00000196090	g.chr20:40911144G>A	9682			MODERATE		2.645	medium	getma.org/?cm=msa&ty=f&p=PTPRT_HUMAN&rb=589&re=726&var=R721C	NA	getma.org/?cm=var&var=hg19,20,40911144,G,A&fts=all	R721C	--	--	1																																		PTPRT_uc010ggj.2_Missense_Mutation_p.R721C	0,1,1	1		probably_damaging(0.976)	p.R721C	NM_007050	NP_008981		deleterious(0)	0,1,1	PTPRT_HUMAN	PTPRT	HGNC	O14522	PTPRT_HUMAN					13	2345	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	UPI0000246C03	721			Extracellular (Potential).|Fibronectin type-III 4.		SNV	PTPRT,missense_variant,p.Arg721Cys,ENST00000373198,NM_133170.3;PTPRT,missense_variant,p.Arg721Cys,ENST00000373201,;PTPRT,missense_variant,p.Arg721Cys,ENST00000373193,NM_007050.5;PTPRT,missense_variant,p.Arg721Cys,ENST00000373190,;PTPRT,missense_variant,p.Arg721Cys,ENST00000373184,;PTPRT,missense_variant,p.Arg721Cys,ENST00000356100,;PTPRT,missense_variant,p.Arg721Cys,ENST00000373187,;	uc002xkg.2	c.2161C>T	2161/12453	1	1			c.2161C>T						20	SNP	c.(2161-2163)CGT>TGT	60	60			skin(8)|ovary(7)|lung(5)	20	Broad	protein tyrosine phosphatase, receptor type, T			40911144		0.348	ENSG00000196090	12602	g.chr20:40911144G>A	homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			646			646	48.649935	KEEP	12	12	-1	42	50	12	12	-1	55.424724	42	50	0.217391	1	0	0	0	0	1	0	0	0	--	--		0	A			PTPRT_uc010ggj.2_Missense_Mutation_p.R721C	166	GBM-19-2629-TP	p.R721C	G	GTAGCCAGACGAACACAGTTG	NM_007050	NP_008981	40911144	O14522	PTPRT_HUMAN	0			13	2345	-	A	A		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	Missense_Mutation	721			Extracellular (Potential).|Fibronectin type-III 4.			
PTPRT	0	broad.mit.edu	GRCh37	20	41306569	41306569	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1835-01	TCGA-27-1835-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373187.1:c.1090C>T	p.Arg364Ter	p.R364*	ENST00000373187		364	Cga/Tga	0			1			A	R/*	uc002xkg.2	protein_coding	YES	CCDS42874.1			1090/4326									skin(8)|ovary(7)|lung(5)	20	c.(1090-1092)CGA>TGA			Low_complexity_(Seg):seg,PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	protein tyrosine phosphatase, receptor type, T				ENSP00000362283		31-Jul									COSM2157258,COSM3405090	31-Jul	.		ENST00000373187	Transcript			homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	ENSG00000196090	g.chr20:41306569G>A	9682			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,20,41306569,G,A&fts=all	R364*	--	--	1																																		PTPRT_uc010ggj.2_Nonsense_Mutation_p.R364*	1,1	1			p.R364*	NM_007050	NP_008981			1,1	PTPRT_HUMAN	PTPRT	HGNC	O14522	PTPRT_HUMAN					7	1274	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	UPI0000246C03	364			Extracellular (Potential).|Fibronectin type-III 1.		SNV	PTPRT,stop_gained,p.Arg364Ter,ENST00000373198,NM_133170.3;PTPRT,stop_gained,p.Arg364Ter,ENST00000373201,;PTPRT,stop_gained,p.Arg364Ter,ENST00000373193,NM_007050.5;PTPRT,stop_gained,p.Arg364Ter,ENST00000373190,;PTPRT,stop_gained,p.Arg364Ter,ENST00000373184,;PTPRT,stop_gained,p.Arg364Ter,ENST00000356100,;PTPRT,stop_gained,p.Arg364Ter,ENST00000373187,;	uc002xkg.2	c.1090C>T	1090/12453	5	2			c.1090C>T						20	SNP	c.(1090-1092)CGA>TGA	44	44			skin(8)|ovary(7)|lung(5)	20	Broad	protein tyrosine phosphatase, receptor type, T			41306569		0.562	ENSG00000196090	12602	g.chr20:41306569G>A	homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			646			646	213.570171	KEEP	41	44	-1	90	92	41	44	-1	220.352273	90	92	0.322314	1	0	0	0	0	0	1	0	0	--	--		0	A			PTPRT_uc010ggj.2_Nonsense_Mutation_p.R364*	194	GBM-27-1835-TP	p.R364*	G	TCACCTGGTCGTGTGAGGAGC	NM_007050	NP_008981	41306569	O14522	PTPRT_HUMAN	0			7	1274	-	A	A		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	Nonsense_Mutation	364			Extracellular (Potential).|Fibronectin type-III 1.			
PTPRT	0	broad.mit.edu	GRCh37	20	41385120	41385120	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01	TCGA-27-1838-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373187.1:c.841G>A	p.Ala281Thr	p.A281T	ENST00000373187		281	Gcg/Acg	0			1			T	A/T	uc002xkg.2	protein_coding	YES	CCDS42874.1			841/4326									skin(8)|ovary(7)|lung(5)	20	c.(841-843)GCG>ACG			PROSITE_profiles:PS50835,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	protein tyrosine phosphatase, receptor type, T				ENSP00000362283		Jun-31									COSM1582451,COSM3405092	Jun-31	.		ENST00000373187	Transcript			homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	ENSG00000196090	g.chr20:41385120C>T	9682			MODERATE		2.05	medium	getma.org/?cm=msa&ty=f&p=PTPRT_HUMAN&rb=193&re=284&var=A281T	getma.org/pdb.php?prot=PTPRT_HUMAN&from=193&to=284&var=A281T	getma.org/?cm=var&var=hg19,20,41385120,C,T&fts=all	A281T	--	--	1																																		PTPRT_uc010ggj.2_Missense_Mutation_p.A281T	1,1	1		probably_damaging(0.993)	p.A281T	NM_007050	NP_008981		deleterious(0)	1,1	PTPRT_HUMAN	PTPRT	HGNC	O14522	PTPRT_HUMAN					6	1025	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	UPI0000246C03	281			Extracellular (Potential).|Ig-like C2-type.		SNV	PTPRT,missense_variant,p.Ala281Thr,ENST00000373198,NM_133170.3;PTPRT,missense_variant,p.Ala281Thr,ENST00000373201,;PTPRT,missense_variant,p.Ala281Thr,ENST00000373193,NM_007050.5;PTPRT,missense_variant,p.Ala281Thr,ENST00000373190,;PTPRT,missense_variant,p.Ala281Thr,ENST00000373184,;PTPRT,missense_variant,p.Ala281Thr,ENST00000356100,;PTPRT,missense_variant,p.Ala281Thr,ENST00000373187,;	uc002xkg.2	c.841G>A	841/12453	2	2			c.841G>A						20	SNP	c.(841-843)GCG>ACG	27	27			skin(8)|ovary(7)|lung(5)	20	Broad	protein tyrosine phosphatase, receptor type, T			41385120		0.567	ENSG00000196090	12602	g.chr20:41385120C>T	homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			646			646	82.148093	KEEP	9	22	-1	21	22	9	22	-1	82.413795	21	22	0.432836	1	0	0	0	0	1	0	0	0	--	--		0	T			PTPRT_uc010ggj.2_Missense_Mutation_p.A281T	197	GBM-27-1838-TP	p.A281T	C	ATCAGCTCCGCGTAGTTGGAC	NM_007050	NP_008981	41385120	O14522	PTPRT_HUMAN	0			6	1025	-	T	T		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	Missense_Mutation	281			Extracellular (Potential).|Ig-like C2-type.			
PTPRT	0	broad.mit.edu	GRCh37	20	40713368	40713368	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-41-3393-01	TCGA-41-3393-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373187.1:c.4090C>A	p.Gln1364Lys	p.Q1364K	ENST00000373187		1364	Cag/Aag	0			1			T	Q/K	uc002xkg.2	protein_coding	YES	CCDS42874.1			4090/4326									skin(8)|ovary(7)|lung(5)	20	c.(4090-4092)CAG>AAG			PROSITE_profiles:PS50056,PROSITE_profiles:PS50055,Gene3D:3.90.190.10,Pfam_domain:PF00102,SMART_domains:SM00404,SMART_domains:SM00194,Superfamily_domains:SSF52799	protein tyrosine phosphatase, receptor type, T				ENSP00000362283		29/31									COSM3405083,COSM3405084	29/31	.		ENST00000373187	Transcript			homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	ENSG00000196090	g.chr20:40713368G>T	9682			MODERATE		1.99	medium	getma.org/?cm=msa&ty=f&p=PTPRT_HUMAN&rb=1202&re=1436&var=Q1364K	getma.org/pdb.php?prot=PTPRT_HUMAN&from=1202&to=1436&var=Q1364K	getma.org/?cm=var&var=hg19,20,40713368,G,T&fts=all	Q1364K	--	--	1																																		PTPRT_uc010ggj.2_Missense_Mutation_p.Q1383K|PTPRT_uc010ggi.2_Missense_Mutation_p.Q567K	1,1	1		benign(0.061)	p.Q1364K	NM_007050	NP_008981		tolerated(0.09)	1,1	PTPRT_HUMAN	PTPRT	HGNC	O14522	PTPRT_HUMAN					29	4274	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	UPI0000246C03	1364			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		SNV	PTPRT,missense_variant,p.Gln1383Lys,ENST00000373198,NM_133170.3;PTPRT,missense_variant,p.Gln1354Lys,ENST00000373201,;PTPRT,missense_variant,p.Gln1367Lys,ENST00000373193,NM_007050.5;PTPRT,missense_variant,p.Gln1363Lys,ENST00000373190,;PTPRT,missense_variant,p.Gln1374Lys,ENST00000373184,;PTPRT,missense_variant,p.Gln1373Lys,ENST00000356100,;PTPRT,missense_variant,p.Gln1364Lys,ENST00000373187,;	uc002xkg.2	c.4090C>A	4090/12453	1	1			c.4090C>A						20	SNP	c.(4090-4092)CAG>AAG	1	1			skin(8)|ovary(7)|lung(5)	20	Broad	protein tyrosine phosphatase, receptor type, T			40713368		0.597	ENSG00000196090	12602	g.chr20:40713368G>T	homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			646			646	37.290353	KEEP	6	9	0.4	40	33	6	9	0.4	41.423161	40	33	0.234375	1	0	0	0	0	1	0	0	0	--	--		0	T			PTPRT_uc010ggj.2_Missense_Mutation_p.Q1383K|PTPRT_uc010ggi.2_Missense_Mutation_p.Q567K	255	GBM-41-3393-TP	p.Q1364K	G	TACTGCTCCTGCCACTTCTCC	NM_007050	NP_008981	40713368	O14522	PTPRT_HUMAN	0			29	4274	-	T	T		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	Missense_Mutation	1364			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.			
PTPRT	11122		GRCh37	20	41101086	41101086	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000373198.4:c.1270G>A	p.Val424Met	p.V424M	ENST00000373198	NM_133170.3	424	Gtg/Atg	0																																																																																																																																																																																																																																												
PTPRU	0	broad.mit.edu	GRCh37	1	29606627	29606627	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-6174-01	TCGA-26-6174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345512.3:c.1842G>A	p.Pro614=	p.P614=	ENST00000345512	NM_005704.4	614	ccG/ccA	0	A:0	A:0	1	A:0		A	P	uc001bru.2	protein_coding	YES	CCDS334.1			1842/4341									large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7	c.(1840-1842)CCG>CCA			hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF207	protein tyrosine phosphatase, receptor type, U		A:0	A:0.0001	ENSP00000334941	A:0.002	Nov-31	4.94E-05					9.04E-05			rs201241001,COSM2076656,COSM2076658,COSM2076657	Nov-31	.		ENST00000345512	Transcript		A:0.0004	canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	ENSG00000060656	g.chr1:29606627G>A	9683			LOW								--	--	1																																		PTPRU_uc001brv.2_Silent_p.P614P|PTPRU_uc001brw.2_Silent_p.P614P|PTPRU_uc009vtq.2_Silent_p.P614P|PTPRU_uc009vtr.2_Silent_p.P614P	0,1,1,1	1			p.P614P	NM_005704	NP_005695	A:0		0,1,1,1	PTPRU_HUMAN	PTPRU	HGNC	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	B3KT29_HUMAN		11	1952	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	UPI000013C57E	614			Extracellular (Potential).|Fibronectin type-III 4.		SNV	PTPRU,synonymous_variant,p.=,ENST00000356870,NM_133177.3;PTPRU,synonymous_variant,p.=,ENST00000373779,NM_133178.3,NM_001195001.1;PTPRU,synonymous_variant,p.=,ENST00000323874,;PTPRU,synonymous_variant,p.=,ENST00000428026,;PTPRU,synonymous_variant,p.=,ENST00000460170,;PTPRU,synonymous_variant,p.=,ENST00000345512,NM_005704.4;PTPRU,non_coding_transcript_exon_variant,,ENST00000415600,;PTPRU,downstream_gene_variant,,ENST00000527027,;PTPRU,upstream_gene_variant,,ENST00000531385,;	uc001bru.2	c.1842G>A	1971/4470	1	1			c.1842G>A						1	SNP	c.(1840-1842)CCG>CCA	62	62			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7	Broad	protein tyrosine phosphatase, receptor type, U			29606627		0.652	ENSG00000060656	12603	g.chr1:29606627G>A	canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity		p.P614P(SIGM5-Tumor)	874		p.P614P(SIGM5-Tumor)	874	35.118176	KEEP	13	5	-1	41	23	13	5	-1	40.170429	41	23	0.212121	1	0	0	0	0	0	0	1	0	--	--		0	A			PTPRU_uc001brv.2_Silent_p.P614P|PTPRU_uc001brw.2_Silent_p.P614P|PTPRU_uc009vtq.2_Silent_p.P614P|PTPRU_uc009vtr.2_Silent_p.P614P	188	GBM-26-6174-TP	p.P614P	G	TGCTGAGGCCGGCACAGGGCC	NM_005704	NP_005695	29606627	Q92729	PTPRU_HUMAN	0		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	11	1952	+	A	A		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	Silent	614			Extracellular (Potential).|Fibronectin type-III 4.			
PTPRZ1	0	broad.mit.edu	GRCh37	7	121651361	121651361	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-5954-01	TCGA-19-5954-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393386.2:c.2261A>G	p.Asn754Ser	p.N754S	ENST00000393386	NM_001206838.1	754	aAt/aGt	0			1			G	N/S	uc003vjy.2	protein_coding	YES	CCDS34740.1			2261/6948									ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9	c.(2260-2262)AAT>AGT			hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF214	protein tyrosine phosphatase, receptor-type,				ENSP00000377047		30-Dec									COSM2156746,COSM2156745	30-Dec	.		ENST00000393386	Transcript			central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	ENSG00000106278	g.chr7:121651361A>G	9685			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=PTPRZ_HUMAN&rb=421&re=1661&var=N754S	NA	getma.org/?cm=var&var=hg19,7,121651361,A,G&fts=all	N754S	--	--	1																																		PTPRZ1_uc003vjz.2_Missense_Mutation_p.N754S|PTPRZ1_uc011knt.1_Missense_Mutation_p.N204S	1,1	1		probably_damaging(0.993)	p.N754S	NM_002851	NP_002842		deleterious_low_confidence(0)	1,1	PTPRZ_HUMAN	PTPRZ1	HGNC	P23471	PTPRZ_HUMAN					12	2656	+			UPI000020F9BB	754			Extracellular (Potential).		SNV	PTPRZ1,missense_variant,p.Asn754Ser,ENST00000393386,NM_001206838.1,NM_002851.2;PTPRZ1,missense_variant,p.Asn754Ser,ENST00000449182,NM_001206839.1;PTPRZ1,splice_region_variant,,ENST00000483028,;	uc003vjy.2	c.2261A>G	2672/8175	3	3			c.2261A>G						7	SNP	c.(2260-2262)AAT>AGT	8	8			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9	Broad	protein tyrosine phosphatase, receptor-type,			121651361		0.488	ENSG00000106278	12604	g.chr7:121651361A>G	central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity							142.935569	KEEP	22	28	-1	85	71	22	28	-1	153.440787	85	71	0.251337	1	0	0	0	0	1	0	0	0	--	--		0	G			PTPRZ1_uc003vjz.2_Missense_Mutation_p.N754S|PTPRZ1_uc011knt.1_Missense_Mutation_p.N204S	174	GBM-19-5954-TP	p.N754S	A	CCGGTATACAATGGTGAGACA	NM_002851	NP_002842	121651361	P23471	PTPRZ_HUMAN	0			12	2656	+	G	G			Missense_Mutation	754			Extracellular (Potential).			
PTTG2	10744		GRCh37	4	37962337	37962337	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000504686.1:c.282C>T	p.Thr94=	p.T94=	ENST00000504686	NM_006607.2	94	acC/acT	0																																																																																																																																																																																																																																												
PTX4	390667	broad.mit.edu	GRCh37	16	1536134	1536134	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149572258		TCGA-06-2563-01	TCGA-06-2563-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000293922.1:c.1228G>A	p.Asp410Asn	p.D410N	ENST00000293922	NM_001013658.1	410	Gac/Aac	0	G:0	G:0	1	G:0.0014		T	D/N	uc010uvf.1	protein_coding					1243/1437										0	c.(1228-1230)GAC>AAC			Gene3D:2.60.120.200,Pfam_domain:PF00354,Prints_domain:PR00895,hmmpanther:PTHR19277,hmmpanther:PTHR19277:SF34,SMART_domains:SM00159,Superfamily_domains:SSF49899	neuronal pentraxin II-like		G:0	G:0.0001	ENSP00000445277	G:0	3-Mar	8.24E-06							6.09E-05	rs149572258,COSM2152839,COSM2152840	3-Mar	.		ENST00000447419	Transcript		G:0.0002		extracellular region	metal ion binding	ENSG00000251692	g.chr16:1536134C>T	14171			MODERATE		2.135	medium	getma.org/?cm=msa&ty=f&p=PTX4_HUMAN&rb=271&re=460&var=D415N	getma.org/pdb.php?prot=PTX4_HUMAN&from=271&to=460&var=D415N	getma.org/?cm=var&var=hg19,16,1536134,C,T&fts=all	D415N	--	--	1																																			0,1,1			probably_damaging(0.998)	p.D410N	NM_001013658	NP_001013680	G:0	deleterious(0)	0,1,1	PTX4_HUMAN	PTX4	HGNC	Q96A99	PTX4_HUMAN					3	1228	-			UPI000041A984	415			Pentaxin.		SNV	PTX4,missense_variant,p.Asp415Asn,ENST00000447419,;PTX4,missense_variant,p.Asp410Asn,ENST00000293922,NM_001013658.1;PTX4,3_prime_UTR_variant,,ENST00000440447,;	uc010uvf.1	c.1228G>A	1269/1516	2	2			c.1228G>A						16	SNP	c.(1228-1230)GAC>AAC	43	43				0	Broad	neuronal pentraxin II-like			1536134		0.652	ENSG00000251692	12613	g.chr16:1536134C>T		extracellular region	metal ion binding							58.216482	KEEP	8	13	-1	15	22	8	13	-1	58.67175	15	22	0.395833	1	0	0	0	0	1	0	0	0	--	--		0	T				86	GBM-06-2563-TP	p.D410N	C	TCGGAGCTGTCGAATCCGCCC	NM_001013658	NP_001013680	1536134	Q96A99	PTX4_HUMAN	0			3	1228	-	T	T			Missense_Mutation	415			Pentaxin.			
PTX4	390667	broad.mit.edu	GRCh37	16	1537571	1537571	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01	TCGA-06-5413-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000293922.1:c.527G>A	p.Gly176Asp	p.G176D	ENST00000293922	NM_001013658.1	176	gGc/gAc	0			1			T	G/D	uc010uvf.1	protein_coding					542/1437										0	c.(526-528)GGC>GAC			hmmpanther:PTHR19277,hmmpanther:PTHR19277:SF34	neuronal pentraxin II-like				ENSP00000445277		3-Feb									COSM2153181,COSM2153182	3-Feb	.		ENST00000447419	Transcript				extracellular region	metal ion binding	ENSG00000251692	g.chr16:1537571C>T	14171			MODERATE		1.525	low	getma.org/?cm=msa&ty=f&p=PTX4_HUMAN&rb=40&re=239&var=G181D	NA	getma.org/?cm=var&var=hg19,16,1537571,C,T&fts=all	G181D	--	--	1																																			1,1			benign(0.006)	p.G176D	NM_001013658	NP_001013680		tolerated(0.24)	1,1	PTX4_HUMAN	PTX4	HGNC	Q96A99	PTX4_HUMAN					2	527	-			UPI000041A984	181					SNV	PTX4,missense_variant,p.Gly181Asp,ENST00000447419,;PTX4,missense_variant,p.Gly176Asp,ENST00000293922,NM_001013658.1;PTX4,intron_variant,,ENST00000440447,;	uc010uvf.1	c.527G>A	568/1516	2	2			c.527G>A						16	SNP	c.(526-528)GGC>GAC	20	20				0	Broad	neuronal pentraxin II-like			1537571		0.726	ENSG00000251692	12613	g.chr16:1537571C>T		extracellular region	metal ion binding							46.027456	KEEP	13	5	-1	11	10	13	5	-1	46.117878	11	10	0.444444	1	0	0	0	0	1	0	0	0	--	--		0	T				96	GBM-06-5413-TP	p.G176D	C	GGCTGCAGTGCCAGGGTGGGC	NM_001013658	NP_001013680	1537571	Q96A99	PTX4_HUMAN	0			2	527	-	T	T			Missense_Mutation	181						
PTX4	0	broad.mit.edu	GRCh37	16	1537375	1537375	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-19-1790-01	TCGA-19-1790-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000447419.2:c.738T>A	p.Ser246Arg	p.S246R	ENST00000447419		246	agT/agA	0			1			T	S/R	uc010uvf.1	protein_coding					738/1437										0	c.(721-723)AGT>AGA			hmmpanther:PTHR19277,hmmpanther:PTHR19277:SF34	neuronal pentraxin II-like				ENSP00000445277		3-Feb									COSM3402095,COSM3402096	3-Feb	.		ENST00000447419	Transcript				extracellular region	metal ion binding	ENSG00000251692	g.chr16:1537375A>T	14171			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=PTX4_HUMAN&rb=240&re=270&var=S246R	NA	getma.org/?cm=var&var=hg19,16,1537375,A,T&fts=all	S246R	--	--	1																																			1,1			benign(0)	p.S241R	NM_001013658	NP_001013680		tolerated(0.58)	1,1	PTX4_HUMAN	PTX4	HGNC	Q96A99	PTX4_HUMAN					2	723	-			UPI000041A984	246					SNV	PTX4,missense_variant,p.Ser246Arg,ENST00000447419,;PTX4,missense_variant,p.Ser241Arg,ENST00000293922,NM_001013658.1;PTX4,intron_variant,,ENST00000440447,;	uc010uvf.1	c.723T>A	764/1516	2	2			c.723T>A						16	SNP	c.(721-723)AGT>AGA	33	33				0	Broad	neuronal pentraxin II-like			1537375		0.677	ENSG00000251692	12613	g.chr16:1537375A>T		extracellular region	metal ion binding							-6.85253	KEEP	3	3	-1	41	52	3	3	-1	8.379886	41	52	0.054795	1	0	0	0	0	1	0	0	0	--	--		0	T				160	GBM-19-1790-TP	p.S241R	A	GGGCAGTCCCACTGAGTACCC	NM_001013658	NP_001013680	1537375	Q96A99	PTX4_HUMAN	0			2	723	-	T	T			Missense_Mutation	246						
PTX4	390667		GRCh37	16	1537647	1537647	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000293922.1:c.451C>T	p.Arg151Cys	p.R151C	ENST00000293922	NM_001013658.1	151	Cgc/Tgc	0																																																																																																																																																																																																																																												
PUM1	9698	broad.mit.edu	GRCh37	1	31479941	31479941	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0877-01	TCGA-06-0877-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000426105.2:c.441G>C	p.Leu147Phe	p.L147F	ENST00000426105		147	ttG/ttC	0			1			G	L/F	uc001bsi.1	protein_coding		CCDS338.1			441/3561									ovary(1)|central_nervous_system(1)|pancreas(1)	3	c.(439-441)TTG>TTC			hmmpanther:PTHR12537,hmmpanther:PTHR12537:SF1	pumilio 1 isoform 2				ENSP00000257075		22-Apr									COSM2152152	22-Apr	.		ENST00000257075	Transcript			cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	ENSG00000134644	g.chr1:31479941C>G	14957			MODERATE		1.795	low	getma.org/?cm=msa&ty=f&p=PUM1_HUMAN&rb=1&re=824&var=L147F	NA	getma.org/?cm=var&var=hg19,1,31479941,C,G&fts=all	L147F	--	--	1																																		PUM1_uc001bsg.1_5'Flank|PUM1_uc001bsh.1_Missense_Mutation_p.L147F|PUM1_uc001bsj.1_Missense_Mutation_p.L147F|PUM1_uc010oga.1_Intron|PUM1_uc001bsk.1_Missense_Mutation_p.L183F|PUM1_uc010ogb.1_Intron	1			probably_damaging(0.997)	p.L147F	NM_014676	NP_055491		deleterious_low_confidence(0.01)	1	PUM1_HUMAN	PUM1	HGNC	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	E9PL65_HUMAN		4	554	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	UPI000014FCE2	147					SNV	PUM1,missense_variant,p.Leu147Phe,ENST00000373747,NM_001020658.1;PUM1,missense_variant,p.Leu147Phe,ENST00000257075,NM_014676.2;PUM1,missense_variant,p.Leu164Phe,ENST00000525843,;PUM1,missense_variant,p.Leu183Phe,ENST00000373741,;PUM1,missense_variant,p.Leu147Phe,ENST00000426105,;PUM1,missense_variant,p.Leu147Phe,ENST00000440538,;PUM1,intron_variant,,ENST00000424085,;PUM1,intron_variant,,ENST00000423018,;PUM1,intron_variant,,ENST00000373742,;PUM1,3_prime_UTR_variant,,ENST00000525948,;PUM1,3_prime_UTR_variant,,ENST00000480602,;PUM1,3_prime_UTR_variant,,ENST00000526215,;	uc001bsi.1	c.441G>C	535/5360	4	4			c.441G>C						1	SNP	c.(439-441)TTG>TTC	17	17			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Broad	pumilio 1 isoform 2			31479941		0.393	ENSG00000134644	12615	g.chr1:31479941C>G	cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding							307.178583	KEEP	59	40	-1	101	89	59	40	-1	312.886452	101	89	0.345725	1	0	0	0	0	1	0	0	0	--	--		0	G			PUM1_uc001bsg.1_5'Flank|PUM1_uc001bsh.1_Missense_Mutation_p.L147F|PUM1_uc001bsj.1_Missense_Mutation_p.L147F|PUM1_uc010oga.1_Intron|PUM1_uc001bsk.1_Missense_Mutation_p.L183F|PUM1_uc010ogb.1_Intron	73	GBM-06-0877-TP	p.L147F	C	TTTTACCTGGCAAGAGCTGCT	NM_014676	NP_055491	31479941	Q14671	PUM1_HUMAN	0		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	4	554	-	G	G		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	Missense_Mutation	147						
PUM1	9698	broad.mit.edu	GRCh37	1	31409615	31409615	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-2561-01	TCGA-06-2561-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000426105.2:c.3310T>G	p.Cys1104Gly	p.C1104G	ENST00000426105		1104	Tgc/Ggc	0			1			C	C/G	uc001bsi.1	protein_coding		CCDS338.1			3304/3561									ovary(1)|central_nervous_system(1)|pancreas(1)	3	c.(3304-3306)TGC>GGC			Gene3D:1.25.10.10,PROSITE_profiles:PS50303,hmmpanther:PTHR12537,hmmpanther:PTHR12537:SF1,Superfamily_domains:SSF48371	pumilio 1 isoform 2				ENSP00000257075		21/22									COSM2152719	21/22	.		ENST00000257075	Transcript			cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	ENSG00000134644	g.chr1:31409615A>C	14957			MODERATE		2.615	medium	getma.org/?cm=msa&ty=f&p=PUM1_HUMAN&rb=828&re=1168&var=C1102G	getma.org/pdb.php?prot=PUM1_HUMAN&from=828&to=1168&var=C1102G	getma.org/?cm=var&var=hg19,1,31409615,A,C&fts=all	C1102G	--	--	1																																		PUM1_uc001bsf.1_Missense_Mutation_p.C770G|PUM1_uc001bsg.1_Missense_Mutation_p.C836G|PUM1_uc001bsh.1_Missense_Mutation_p.C1104G|PUM1_uc001bsj.1_Missense_Mutation_p.C1078G|PUM1_uc010oga.1_Missense_Mutation_p.C960G|PUM1_uc001bsk.1_Missense_Mutation_p.C1140G|PUM1_uc010ogb.1_Missense_Mutation_p.C1043G|SNORD103A_uc009vts.1_Intron	1			possibly_damaging(0.624)	p.C1102G	NM_014676	NP_055491		deleterious(0)	1	PUM1_HUMAN	PUM1	HGNC	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	E9PL65_HUMAN		21	3417	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	UPI000014FCE2	1102			PUM-HD.		SNV	PUM1,missense_variant,p.Cys1105Gly,ENST00000373747,NM_001020658.1;PUM1,missense_variant,p.Cys1102Gly,ENST00000257075,NM_014676.2;PUM1,missense_variant,p.Cys860Gly,ENST00000424085,;PUM1,missense_variant,p.Cys1041Gly,ENST00000525843,;PUM1,missense_variant,p.Cys1140Gly,ENST00000373741,;PUM1,missense_variant,p.Cys1104Gly,ENST00000426105,;PUM1,missense_variant,p.Cys1078Gly,ENST00000440538,;PUM1,missense_variant,p.Cys960Gly,ENST00000423018,;PUM1,missense_variant,p.Cys1043Gly,ENST00000373742,;PUM1,missense_variant,p.Cys816Gly,ENST00000498419,;PUM1,missense_variant,p.Cys213Gly,ENST00000529846,;PUM1,missense_variant,p.Cys203Gly,ENST00000525997,;SNORD103A,upstream_gene_variant,,ENST00000363284,NR_004054.2;PUM1,3_prime_UTR_variant,,ENST00000530669,;	uc001bsi.1	c.3304T>G	3398/5360	3	3			c.3304T>G						1	SNP	c.(3304-3306)TGC>GGC	59	59			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Broad	pumilio 1 isoform 2			31409615		0.522	ENSG00000134644	12615	g.chr1:31409615A>C	cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding							54.578319	KEEP	10	12	-1	24	31	10	12	-1	58.013843	24	31	0.273973	1	0	0	0	0	1	0	0	0	--	--		0	C			PUM1_uc001bsf.1_Missense_Mutation_p.C770G|PUM1_uc001bsg.1_Missense_Mutation_p.C836G|PUM1_uc001bsh.1_Missense_Mutation_p.C1104G|PUM1_uc001bsj.1_Missense_Mutation_p.C1078G|PUM1_uc010oga.1_Missense_Mutation_p.C960G|PUM1_uc001bsk.1_Missense_Mutation_p.C1140G|PUM1_uc010ogb.1_Missense_Mutation_p.C1043G|SNORD103A_uc009vts.1_Intron	84	GBM-06-2561-TP	p.C1102G	A	TTCATGGTGCACACCTCATCG	NM_014676	NP_055491	31409615	Q14671	PUM1_HUMAN	0		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	21	3417	-	C	C		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	Missense_Mutation	1102			PUM-HD.			
PUS7	0	broad.mit.edu	GRCh37	7	105111170	105111170	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-16-0846-01	TCGA-16-0846-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356362.2:c.1363T>G	p.Tyr455Asp	p.Y455D	ENST00000356362	NM_019042.3	455	Tat/Gat	0			1			C	Y/D	uc003vcx.2	protein_coding	YES	CCDS34725.1			1363/1986									breast(1)	1	c.(1363-1365)TAT>GAT			Pfam_domain:PF01142,PIRSF_domain:PIRSF037016,PROSITE_profiles:PS50984,hmmpanther:PTHR13326,TIGRFAM_domain:TIGR00094	pseudouridylate synthase 7 homolog				ENSP00000348722		16-Nov									COSM3411447	16-Nov	.		ENST00000356362	Transcript			pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	ENSG00000091127	g.chr7:105111170A>C	26033			MODERATE		1.57	low	getma.org/?cm=msa&ty=f&p=PUS7_HUMAN&rb=247&re=642&var=Y455D	getma.org/pdb.php?prot=PUS7_HUMAN&from=247&to=642&var=Y455D	getma.org/?cm=var&var=hg19,7,105111170,A,C&fts=all	Y455D	--	--	1																																		PUS7_uc010lji.2_Missense_Mutation_p.Y461D|PUS7_uc003vcy.2_Missense_Mutation_p.Y455D|PUS7_uc003vcz.1_Missense_Mutation_p.Y455D	1	1		benign(0.243)	p.Y455D	NM_019042	NP_061915		tolerated(0.18)	1	PUS7_HUMAN	PUS7	HGNC	Q96PZ0	PUS7_HUMAN			A3R6R7_HUMAN		11	1582	-			UPI00001D483E	455			TRUD.		SNV	PUS7,missense_variant,p.Tyr455Asp,ENST00000356362,NM_019042.3;PUS7,missense_variant,p.Tyr455Asp,ENST00000469408,;PUS7,non_coding_transcript_exon_variant,,ENST00000478208,;PUS7,intron_variant,,ENST00000481939,;	uc003vcx.2	c.1363T>G	1578/3480	3	3			c.1363T>G						7	SNP	c.(1363-1365)TAT>GAT	55	55			breast(1)	1	Broad	pseudouridylate synthase 7 homolog			105111170		0.423	ENSG00000091127	12623	g.chr7:105111170A>C	pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	Colon(138;2387 3051 17860)			Colon(138;2387 3051 17860)			195.50653	KEEP	49	24	-1	113	83	49	24	-1	207.798289	113	83	0.263374	1	0	0	0	0	1	0	0	0	--	--		0	C			PUS7_uc010lji.2_Missense_Mutation_p.Y461D|PUS7_uc003vcy.2_Missense_Mutation_p.Y455D|PUS7_uc003vcz.1_Missense_Mutation_p.Y455D	155	GBM-16-0846-TP	p.Y455D	A	TTCATTCCATATTTTGAAAGT	NM_019042	NP_061915	105111170	Q96PZ0	PUS7_HUMAN	0			11	1582	-	C	C			Missense_Mutation	455			TRUD.			
PVR	0	broad.mit.edu	GRCh37	19	45153152	45153152	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01	TCGA-28-5208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000425690.3:c.499G>A	p.Val167Ile	p.V167I	ENST00000425690	NM_006505.3	167	Gtc/Atc	0			1			A	V/I	uc002ozm.2	protein_coding	YES	CCDS12640.1			499/1254										0	c.(499-501)GTC>ATC			PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF54,Gene3D:2.60.40.10,Pfam_domain:PF08205,Superfamily_domains:SSF48726	poliovirus receptor isoform alpha				ENSP00000402060		8-Mar	3.29E-05					4.56E-05		6.16E-05	rs754527739,COSM3404370	8-Mar	.		ENST00000425690	Transcript			adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity	ENSG00000073008	g.chr19:45153152G>A	9705			MODERATE		0.82	low	getma.org/?cm=msa&ty=f&p=PVR_HUMAN&rb=147&re=232&var=V167I	getma.org/pdb.php?prot=PVR_HUMAN&from=147&to=232&var=V167I	getma.org/?cm=var&var=hg19,19,45153152,G,A&fts=all	V167I	--	--	1																																		PVR_uc010ejs.2_Missense_Mutation_p.V167I|PVR_uc010xxb.1_Missense_Mutation_p.V167I|PVR_uc010xxc.1_Missense_Mutation_p.V167I|PVR_uc002ozn.2_Missense_Mutation_p.V112I	0,1	1		benign(0.133)	p.V167I	NM_006505	NP_006496		tolerated(0.37)	0,1	PVR_HUMAN	PVR	HGNC	P15151	PVR_HUMAN		Epithelial(262;0.000601)			3	798	+	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)	UPI000004A2C1	167			Extracellular (Potential).|Ig-like C2-type 1.		SNV	PVR,missense_variant,p.Val167Ile,ENST00000425690,NM_006505.3;PVR,missense_variant,p.Val167Ile,ENST00000344956,NM_001135769.1;PVR,missense_variant,p.Val167Ile,ENST00000403059,NM_001135768.1;PVR,missense_variant,p.Val167Ile,ENST00000406449,NM_001135770.1;PVR,upstream_gene_variant,,ENST00000587785,;CTB-171A8.1,intron_variant,,ENST00000590796,;PVR,3_prime_UTR_variant,,ENST00000187830,;	uc002ozm.2	c.499G>A	798/3325	2	2			c.499G>A						19	SNP	c.(499-501)GTC>ATC	28	28				0	Broad	poliovirus receptor isoform alpha			45153152		0.617	ENSG00000073008	12627	g.chr19:45153152G>A	adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity							-40.710529	KEEP	14	6	-1	202	196	14	6	-1	30.928572	202	196	0.055233	1	0	0	0	0	1	0	0	0	--	--		0	A			PVR_uc010ejs.2_Missense_Mutation_p.V167I|PVR_uc010xxb.1_Missense_Mutation_p.V167I|PVR_uc010xxc.1_Missense_Mutation_p.V167I|PVR_uc002ozn.2_Missense_Mutation_p.V112I	217	GBM-28-5208-TP	p.V167I	G	GGCCCGCTGCGTCTCCACAGG	NM_006505	NP_006496	45153152	P15151	PVR_HUMAN	0		Epithelial(262;0.000601)	3	798	+	A	A	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)	Missense_Mutation	167			Extracellular (Potential).|Ig-like C2-type 1.			
PVRL1	0	broad.mit.edu	GRCh37	11	119535607	119535607	+	stop_gained	Nonsense_Mutation	SNP	G	G	C			TCGA-19-2623-01	TCGA-19-2623-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264025.3:c.1404C>G	p.Tyr468Ter	p.Y468*	ENST00000264025	NM_002855.4	468	taC/taG	0			1			C	Y/*	uc001pwv.2	protein_coding	YES	CCDS8426.1			1404/1554										0	c.(1402-1404)TAC>TAG			hmmpanther:PTHR23277:SF12,hmmpanther:PTHR23277	poliovirus receptor-related 1 isoform 1				ENSP00000264025		6-Jun									COSM3397473	6-Jun	.		ENST00000264025	Transcript	1		adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	ENSG00000110400	g.chr11:119535607G>C	9706			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,11,119535607,G,C&fts=all	Y468*	--	--	1																																		PVRL1_uc001pwu.1_Intron	1	1			p.Y468*	NM_002855	NP_002846			1	PVRL1_HUMAN	PVRL1	HGNC	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	Q6SYC2_HUMAN		6	1576	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	UPI000004A2BE	468			Cytoplasmic (Potential).		SNV	PVRL1,stop_gained,p.Tyr468Ter,ENST00000264025,NM_002855.4;PVRL1,intron_variant,,ENST00000341398,NM_203285.1;	uc001pwv.2	c.1404C>G	1935/5840	5	4			c.1404C>G						11	SNP	c.(1402-1404)TAC>TAG	45	45				0	Broad	poliovirus receptor-related 1 isoform 1			119535607		0.582	ENSG00000110400	12629	g.chr11:119535607G>C	adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity							59.861834	KEEP	11	8	-1	22	17	11	8	-1	60.874523	22	17	0.346939	1	0	0	0	0	0	1	0	0	--	--		0	C			PVRL1_uc001pwu.1_Intron	163	GBM-19-2623-TP	p.Y468*	G	CCACGGTGAAGTAGGGCCGCT	NM_002855	NP_002846	119535607	Q15223	PVRL1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	1576	-	C	C		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	Nonsense_Mutation	468			Cytoplasmic (Potential).			
PVRL2	0	broad.mit.edu	GRCh37	19	45389216	45389216	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-32-2495-01	TCGA-32-2495-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252483.5:c.1220delA	p.Lys407SerfsTer88	p.K407Sfs*88	ENST00000252483	NM_001042724.1	407	Aag/ag	0			1			-	K/X	uc002ozw.1	protein_coding	YES	CCDS42576.1			1219/1617										0	c.(1219-1221)AAGfs			hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF63	poliovirus receptor related 2 isoform delta				ENSP00000252483		9-Jul										9-Jul	.		ENST00000252483	Transcript			adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	ENSG00000130202	g.chr19:45389216delA	9707	1		HIGH								--	--	1																																				1			p.K407fs	NM_001042724	NP_001036189				PVRL2_HUMAN	PVRL2	HGNC	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	Q7Z458_HUMAN,Q7Z457_HUMAN,Q7Z456_HUMAN		7	1609	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	UPI000004A2BF	407			Cytoplasmic (Potential).		deletion	PVRL2,frameshift_variant,p.Lys407SerfsTer88,ENST00000252483,NM_001042724.1;PVRL2,intron_variant,,ENST00000592018,;TOMM40,upstream_gene_variant,,ENST00000589253,;CTB-129P6.4,intron_variant,,ENST00000585408,;	uc002ozw.1	c.1219delA	1219/2466	5	5			c.1219delA						19	DEL	c.(1219-1221)AAGfs	43	43				0	Broad	poliovirus receptor related 2 isoform delta			45389216		0.483	ENSG00000130202	12630	g.chr19:45389216delA	adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity																				0.05	1	1	0	1	0	0	0	0	0	--	--		0	-				237	GBM-32-2495-TP	p.K407fs	A	TCCCTCCTACAAGCCACCAAC	NM_001042724	NP_001036189	45389216	Q92692	PVRL2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	7	1609	+	-	-	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	Frame_Shift_Del	407			Cytoplasmic (Potential).			
PVRL4	0	broad.mit.edu	GRCh37	1	161049728	161049728	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01	TCGA-06-2562-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368012.3:c.91G>A	p.Ala31Thr	p.A31T	ENST00000368012	NM_030916.2	31	Gcg/Acg	0			1			T	A/T	uc001fxo.2	protein_coding	YES	CCDS1216.1			91/1533									ovary(2)	2	c.(91-93)GCG>ACG			PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF11,Cleavage_site_(Signalp):SignalP-noTM	poliovirus receptor-related 4 precursor				ENSP00000356991		9-Feb									COSM2152764	9-Feb	.		ENST00000368012	Transcript	1		adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		ENSG00000143217	g.chr1:161049728C>T	19688			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=PVRL4_HUMAN&rb=31&re=145&var=A31T	getma.org/pdb.php?prot=PVRL4_HUMAN&from=31&to=145&var=A31T	getma.org/?cm=var&var=hg19,1,161049728,C,T&fts=all	A31T	--	--	1																																			1	1		benign(0.367)	p.A31T	NM_030916	NP_112178		tolerated(0.1)	1	PVRL4_HUMAN	PVRL4	HGNC	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		K4PZ75_HUMAN		2	390	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		UPI000006F072	31					SNV	PVRL4,missense_variant,p.Ala31Thr,ENST00000368012,NM_030916.2;PVRL4,upstream_gene_variant,,ENST00000453926,;RP11-544M22.8,upstream_gene_variant,,ENST00000447167,;	uc001fxo.2	c.91G>A	394/3502	1	1			c.91G>A						1	SNP	c.(91-93)GCG>ACG	16	16			ovary(2)	2	Broad	poliovirus receptor-related 4 precursor			161049728		0.627	ENSG00000143217	12632	g.chr1:161049728C>T	adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		NSCLC(76;1160 1387 14476 16172 29359)			NSCLC(76;1160 1387 14476 16172 29359)			87.735862	KEEP	15	17	-1	32	25	15	17	-1	88.391306	32	25	0.4	1	0	0	0	0	1	0	0	0	--	--		0	T				85	GBM-06-2562-TP	p.A31T	C	AGCTCACCCGCGGGGCACCGG	NM_030916	NP_112178	161049728	Q96NY8	PVRL4_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.00165)		2	390	-	T	T	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		Missense_Mutation	31						
PVRL4	0	broad.mit.edu	GRCh37	1	161049529	161049529	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01	TCGA-26-5136-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368012.3:c.290G>A	p.Arg97His	p.R97H	ENST00000368012	NM_030916.2	97	cGc/cAc	0			1			T	R/H	uc001fxo.2	protein_coding	YES	CCDS1216.1			290/1533									ovary(2)	2	c.(289-291)CGC>CAC			Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF11,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	poliovirus receptor-related 4 precursor				ENSP00000356991		9-Feb									COSM2157138	9-Feb	.		ENST00000368012	Transcript	1		adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		ENSG00000143217	g.chr1:161049529C>T	19688			MODERATE		2.165	medium	getma.org/?cm=msa&ty=f&p=PVRL4_HUMAN&rb=31&re=145&var=R97H	getma.org/pdb.php?prot=PVRL4_HUMAN&from=31&to=145&var=R97H	getma.org/?cm=var&var=hg19,1,161049529,C,T&fts=all	R97H	--	--	1																																			1	1		possibly_damaging(0.819)	p.R97H	NM_030916	NP_112178		deleterious(0.04)	1	PVRL4_HUMAN	PVRL4	HGNC	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		K4PZ75_HUMAN		2	589	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		UPI000006F072	97			Ig-like V-type 1.|Extracellular (Potential).		SNV	PVRL4,missense_variant,p.Arg97His,ENST00000368012,NM_030916.2;PVRL4,upstream_gene_variant,,ENST00000453926,;RP11-544M22.8,upstream_gene_variant,,ENST00000447167,;	uc001fxo.2	c.290G>A	593/3502	2	2			c.290G>A						1	SNP	c.(289-291)CGC>CAC	42	42			ovary(2)	2	Broad	poliovirus receptor-related 4 precursor			161049529		0.687	ENSG00000143217	12632	g.chr1:161049529C>T	adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		NSCLC(76;1160 1387 14476 16172 29359)			NSCLC(76;1160 1387 14476 16172 29359)			83.517329	KEEP	21	14	-1	17	25	21	14	-1	83.569852	17	25	0.469697	1	0	0	0	0	1	0	0	0	--	--		0	T				185	GBM-26-5136-TP	p.R97H	C	CTGCTCCACGCGGCCCTCGTA	NM_030916	NP_112178	161049529	Q96NY8	PVRL4_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.00165)		2	589	-	T	T	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		Missense_Mutation	97			Ig-like V-type 1.|Extracellular (Potential).			
PWP2	5822		GRCh37	21	45545899	45545899	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000291576.7:c.1973T>C	p.Leu658Ser	p.L658S	ENST00000291576	NM_005049.2	658	tTg/tCg	0																																																																																																																																																																																																																																												
PXDN	7837		GRCh37	2	1652977	1652977	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000252804.4:c.2575T>G	p.Ser859Ala	p.S859A	ENST00000252804	NM_012293.1	859	Tct/Gct	0																																																																																																																																																																																																																																												
PXDNL	0	broad.mit.edu	GRCh37	8	52321474	52321474	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-12-0688-01	TCGA-12-0688-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356297.4:c.2710G>T	p.Glu904Ter	p.E904*	ENST00000356297	NM_144651.4	904	Gag/Tag	0			1			A	E/*	uc003xqu.3	protein_coding	YES	CCDS47855.1			2710/4392									ovary(1)|pancreas(1)	2	c.(2710-2712)GAG>TAG			PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF38,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113	peroxidasin homolog-like precursor				ENSP00000348645		17/23									COSM2153898,COSM2153897	17/23	.		ENST00000356297	Transcript			hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	ENSG00000147485	g.chr8:52321474C>A	26359			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,8,52321474,C,A&fts=all	E904*	--	--	1																																		PXDNL_uc003xqt.3_RNA	1,1	1			p.E904*	NM_144651	NP_653252			1,1	PXDNL_HUMAN	PXDNL	HGNC	A1KZ92	PXDNL_HUMAN					17	2811	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	UPI0001AE6ED6	904					SNV	PXDNL,stop_gained,p.Glu904Ter,ENST00000356297,NM_144651.4;PXDNL,stop_gained,p.Glu904Ter,ENST00000543296,;PXDNL,stop_gained,p.Glu23Ter,ENST00000522933,;PXDNL,stop_gained,p.Glu170Ter,ENST00000522628,;	uc003xqu.3	c.2710G>T	2811/4805	5	2			c.2710G>T						8	SNP	c.(2710-2712)GAG>TAG	18	18			ovary(1)|pancreas(1)	2	Broad	peroxidasin homolog-like precursor			52321474		0.592	ENSG00000147485	12638	g.chr8:52321474C>A	hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity							61.743105	KEEP	12	15	0.555555556	46	20	12	15	0.555555556	64.967	46	20	0.294118	1	0	0	0	0	0	1	0	0	--	--		0	A			PXDNL_uc003xqt.3_RNA	121	GBM-12-0688-TP	p.E904*	C	GATTCCCGCTCCGAGCTCCCG	NM_144651	NP_653252	52321474	A1KZ92	PXDNL_HUMAN	0			17	2811	-	A	A		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	Nonsense_Mutation	904						
PXDNL	0	broad.mit.edu	GRCh37	8	52387561	52387561	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356297.4:c.665C>T	p.Ala222Val	p.A222V	ENST00000356297	NM_144651.4	222	gCt/gTt	0			1			A	A/V	uc003xqu.3	protein_coding	YES	CCDS47855.1			665/4392									ovary(1)|pancreas(1)	2	c.(664-666)GCT>GTT			Gene3D:3.80.10.10,SMART_domains:SM00082,Superfamily_domains:SSF52058	peroxidasin homolog-like precursor				ENSP00000348645		23-Jul									COSM3413049	23-Jul	.		ENST00000356297	Transcript			hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	ENSG00000147485	g.chr8:52387561G>A	26359			MODERATE		1.075	low	getma.org/?cm=msa&ty=f&p=PXDNL_HUMAN&rb=180&re=233&var=A222V	getma.org/pdb.php?prot=PXDNL_HUMAN&from=180&to=233&var=A222V	getma.org/?cm=var&var=hg19,8,52387561,G,A&fts=all	A222V	--	--	1																																			1	1		benign(0.033)	p.A222V	NM_144651	NP_653252		tolerated(0.24)	1	PXDNL_HUMAN	PXDNL	HGNC	A1KZ92	PXDNL_HUMAN					7	766	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	UPI0001AE6ED6	222			LRRCT.		SNV	PXDNL,missense_variant,p.Ala222Val,ENST00000356297,NM_144651.4;PXDNL,missense_variant,p.Ala222Val,ENST00000543296,;	uc003xqu.3	c.665C>T	766/4805	1	1			c.665C>T						8	SNP	c.(664-666)GCT>GTT	52	52			ovary(1)|pancreas(1)	2	Broad	peroxidasin homolog-like precursor			52387561		0.463	ENSG00000147485	12638	g.chr8:52387561G>A	hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity							4.838909	KEEP	2	0	-1	4	9	2	0	-1	6.796396	4	9	0.133333	1	0	0	0	0	1	0	0	0	--	--		0	A				235	GBM-32-2491-TP	p.A222V	G	TGTTACTGAAGCAACTGCACG	NM_144651	NP_653252	52387561	A1KZ92	PXDNL_HUMAN	0			7	766	-	A	A		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	Missense_Mutation	222			LRRCT.			
PXDNL	0	broad.mit.edu	GRCh37	8	52339264	52339264	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-41-2575-01	TCGA-41-2575-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356297.4:c.1580A>C	p.Asn527Thr	p.N527T	ENST00000356297	NM_144651.4	527	aAt/aCt	0			1			G	N/T	uc003xqu.3	protein_coding	YES	CCDS47855.1			1580/4392									ovary(1)|pancreas(1)	2	c.(1579-1581)AAT>ACT			PROSITE_profiles:PS50835,hmmpanther:PTHR11475:SF38,hmmpanther:PTHR11475,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	peroxidasin homolog-like precursor				ENSP00000348645		13/23	8.28E-06							9.15E-05	rs777817408,COSM3413048	13/23	.		ENST00000356297	Transcript			hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	ENSG00000147485	g.chr8:52339264T>G	26359			MODERATE		0.105	neutral	getma.org/?cm=msa&ty=f&p=PXDNL_HUMAN&rb=511&re=597&var=N527T	getma.org/pdb.php?prot=PXDNL_HUMAN&from=511&to=597&var=N527T	getma.org/?cm=var&var=hg19,8,52339264,T,G&fts=all	N527T	--	--	1																																			0,1	1		benign(0.088)	p.N527T	NM_144651	NP_653252		tolerated(0.82)	0,1	PXDNL_HUMAN	PXDNL	HGNC	A1KZ92	PXDNL_HUMAN					13	1681	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	UPI0001AE6ED6	527			Ig-like C2-type 4.		SNV	PXDNL,missense_variant,p.Asn527Thr,ENST00000356297,NM_144651.4;PXDNL,missense_variant,p.Asn527Thr,ENST00000543296,;	uc003xqu.3	c.1580A>C	1681/4805	3	3			c.1580A>C						8	SNP	c.(1579-1581)AAT>ACT	52	52			ovary(1)|pancreas(1)	2	Broad	peroxidasin homolog-like precursor			52339264		0.338	ENSG00000147485	12638	g.chr8:52339264T>G	hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity							40.625737	KEEP	7	7	-1	8	4	7	7	-1	40.625737	8	4	0.5	1	0	0	0	0	1	0	0	0	--	--		0	G				253	GBM-41-2575-TP	p.N527T	T	AATGTTTATATTCTTTCCAAC	NM_144651	NP_653252	52339264	A1KZ92	PXDNL_HUMAN	0			13	1681	-	G	G		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	Missense_Mutation	527			Ig-like C2-type 4.			
PXDNL	0	broad.mit.edu	GRCh37	8	52387699	52387699	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01	TCGA-41-5651-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356297.4:c.527G>A	p.Arg176His	p.R176H	ENST00000356297	NM_144651.4	176	cGt/cAt	0			1			T	R/H	uc003xqu.3	protein_coding	YES	CCDS47855.1			527/4392									ovary(1)|pancreas(1)	2	c.(526-528)CGT>CAT			PROSITE_profiles:PS51450,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	peroxidasin homolog-like precursor				ENSP00000348645		23-Jul	9.93E-05	0.000104	8.71E-05		0.000152	0.000136			rs199619104,COSM3413050	23-Jul	.		ENST00000356297	Transcript			hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	ENSG00000147485	g.chr8:52387699C>T	26359			MODERATE		-0.355	neutral	getma.org/?cm=msa&ty=f&p=PXDNL_HUMAN&rb=122&re=182&var=R176H	getma.org/pdb.php?prot=PXDNL_HUMAN&from=122&to=182&var=R176H	getma.org/?cm=var&var=hg19,8,52387699,C,T&fts=all	R176H	--	--	1																																			0,1	1		benign(0.344)	p.R176H	NM_144651	NP_653252		tolerated(0.06)	0,1	PXDNL_HUMAN	PXDNL	HGNC	A1KZ92	PXDNL_HUMAN					7	628	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	UPI0001AE6ED6	176					SNV	PXDNL,missense_variant,p.Arg176His,ENST00000356297,NM_144651.4;PXDNL,missense_variant,p.Arg176His,ENST00000543296,;	uc003xqu.3	c.527G>A	628/4805	2	2			c.527G>A						8	SNP	c.(526-528)CGT>CAT	20	20			ovary(1)|pancreas(1)	2	Broad	peroxidasin homolog-like precursor			52387699		0.468	ENSG00000147485	12638	g.chr8:52387699C>T	hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity							45.762519	KEEP	9	8	-1	11	17	9	8	-1	46.11988	11	17	0.4	1	0	0	0	0	1	0	0	0	--	--		0	T				258	GBM-41-5651-TP	p.R176H	C	GGAATCCAGACGCCTAGGCAT	NM_144651	NP_653252	52387699	A1KZ92	PXDNL_HUMAN	0			7	628	-	T	T		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	Missense_Mutation	176						
PXN	5829	broad.mit.edu	GRCh37	12	120651689	120651689	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0876-01	TCGA-06-0876-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267257.7:c.1507T>G	p.Ser503Ala	p.S503A	ENST00000267257	NM_001243756.1	503	Tca/Gca	0			1			C	S/A	uc001txt.2	protein_coding		CCDS44997.1			1465/1776									ovary(1)|breast(1)	2	c.(1465-1467)TCA>GCA			Superfamily_domains:SSF57716,SMART_domains:SM00132,Gene3D:2.10.110.10,Pfam_domain:PF00412,PROSITE_patterns:PS00478,hmmpanther:PTHR24216:SF11,hmmpanther:PTHR24216,PROSITE_profiles:PS50023	paxillin isoform 1				ENSP00000228307		12-Nov									COSM3398435,COSM3398434,COSM3398436	12-Nov	.		ENST00000228307	Transcript			cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	ENSG00000089159	g.chr12:120651689A>C	9718			MODERATE		2.055	medium	getma.org/?cm=msa&ty=f&p=PAXI_HUMAN&rb=476&re=531&var=S489A	getma.org/pdb.php?prot=PAXI_HUMAN&from=476&to=531&var=S489A	getma.org/?cm=var&var=hg19,12,120651689,A,C&fts=all	S489A	--	--	1																																		PXN_uc001txu.2_Missense_Mutation_p.S301A|PXN_uc001txv.2_Missense_Mutation_p.S370A|PXN_uc001txx.2_Missense_Mutation_p.S322A|PXN_uc001txy.2_Missense_Mutation_p.S455A|PXN_uc001txz.2_RNA	1,1,1			possibly_damaging(0.739)	p.S489A	NM_001080855	NP_001074324		deleterious(0.02)	1,1,1	PAXI_HUMAN	PXN	HGNC	P49023	PAXI_HUMAN			F8W1E0_HUMAN,F8W0K8_HUMAN,F8W0G0_HUMAN		11	1596	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		UPI0000E00CD4	489			LIM zinc-binding 3.		SNV	PXN,missense_variant,p.Ser301Ala,ENST00000397506,;PXN,missense_variant,p.Ser487Ala,ENST00000536957,;PXN,missense_variant,p.Ser503Ala,ENST00000267257,NM_001243756.1;PXN,missense_variant,p.Ser322Ala,ENST00000458477,NM_025157.4;PXN,missense_variant,p.Ser489Ala,ENST00000228307,NM_001080855.2;PXN,missense_variant,p.Ser455Ala,ENST00000424649,NM_002859.3;PXN,downstream_gene_variant,,ENST00000550795,;PXN-AS1,downstream_gene_variant,,ENST00000535200,;PXN-AS1,downstream_gene_variant,,ENST00000542265,;PXN-AS1,downstream_gene_variant,,ENST00000539446,;PXN-AS1,downstream_gene_variant,,ENST00000542314,;PXN-AS1,downstream_gene_variant,,ENST00000538804,;PXN,non_coding_transcript_exon_variant,,ENST00000538144,;PXN,non_coding_transcript_exon_variant,,ENST00000323871,;	uc001txt.2	c.1465T>G	1607/3785	4	4			c.1465T>G						12	SNP	c.(1465-1467)TCA>GCA	46	46			ovary(1)|breast(1)	2	Broad	paxillin isoform 1			120651689		0.617	ENSG00000089159	12642	g.chr12:120651689A>C	cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			115			115	9.52125	KEEP	2	1	-1	4	3	2	1	-1	9.878511	4	3	0.3	1	0	0	0	0	1	0	0	0	--	--		0	C			PXN_uc001txu.2_Missense_Mutation_p.S301A|PXN_uc001txv.2_Missense_Mutation_p.S370A|PXN_uc001txx.2_Missense_Mutation_p.S322A|PXN_uc001txy.2_Missense_Mutation_p.S455A|PXN_uc001txz.2_RNA	72	GBM-06-0876-TP	p.S489A	A	TTGAGGGCTGAGATATAGTTC	NM_001080855	NP_001074324	120651689	P49023	PAXI_HUMAN	0			11	1596	-	C	C	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		Missense_Mutation	489			LIM zinc-binding 3.			
PYCRL	0	broad.mit.edu	GRCh37	8	144690265	144690265	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G			TCGA-28-5207-01	TCGA-28-5207-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000495276.1:n.130T>C		*44*	ENST00000495276				0			1			G		uc003yyy.2	processed_transcript															0	c.(157-159)AGT>AGC				pyrroline-5-carboxylate reductase-like						6-Feb									COSM3412804	6-Feb	.		ENST00000495276	Transcript			proline biosynthetic process		pyrroline-5-carboxylate reductase activity	ENSG00000104524	g.chr8:144690265A>G	25846			MODIFIER								--	--	1																																		PYCRL_uc011lkm.1_Silent_p.S53S|PYCRL_uc011lkn.1_RNA	1				p.S53S	NM_023078	NP_075566			1		PYCRL	HGNC	Q53H96	P5CR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)				2	169	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)			41					SNV	PYCRL,synonymous_variant,p.=,ENST00000220966,NM_023078.3;PYCRL,synonymous_variant,p.=,ENST00000433751,;PYCRL,5_prime_UTR_variant,,ENST00000377579,;TSTA3,downstream_gene_variant,,ENST00000425753,NM_003313.3;TSTA3,downstream_gene_variant,,ENST00000529064,;TSTA3,downstream_gene_variant,,ENST00000524719,;RP11-661A12.14,downstream_gene_variant,,ENST00000606452,;PYCRL,non_coding_transcript_exon_variant,,ENST00000495276,;PYCRL,non_coding_transcript_exon_variant,,ENST00000462036,;PYCRL,3_prime_UTR_variant,,ENST00000447926,;PYCRL,non_coding_transcript_exon_variant,,ENST00000482616,;TSTA3,downstream_gene_variant,,ENST00000531473,;TSTA3,downstream_gene_variant,,ENST00000528920,;TSTA3,downstream_gene_variant,,ENST00000527677,;	uc003yyy.2	c.159T>C	130/985	4	4			c.159T>C						8	SNP	c.(157-159)AGT>AGC	17	17				0	Broad	pyrroline-5-carboxylate reductase-like			144690265		0.532	ENSG00000104524	12647	g.chr8:144690265A>G	proline biosynthetic process		pyrroline-5-carboxylate reductase activity							18.553794	KEEP	8	6	-1	40	49	8	6	-1	28.180175	40	49	0.148148	1	0	0	0	0	0	0	1	0	--	--		0	G			PYCRL_uc011lkm.1_Silent_p.S53S|PYCRL_uc011lkn.1_RNA	216	GBM-28-5207-TP	p.S53S	A	CTGTTGGTGCACTGGCCAGTA	NM_023078	NP_075566	144690265	Q53H96	P5CR3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		2	169	-	G	G	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Silent	41						
PYDC2	152138	broad.mit.edu	GRCh37	3	191179074	191179074	+	synonymous_variant	Silent	SNP	C	C	T	rs141891926	by1000genomes	TCGA-06-5410-01	TCGA-06-5410-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000518817.1:c.123C>T	p.Thr41=	p.T41=	ENST00000518817	NM_001083308.1	41	acC/acT	0	T:0.0075	T:0.0098	1	T:0		T	T	uc011bso.1	protein_coding	YES				123/294										0	c.(121-123)ACC>ACT			Superfamily_domains:SSF47986,Gene3D:1.10.533.10,Pfam_domain:PF02758,hmmpanther:PTHR24106:SF14,hmmpanther:PTHR24106,PROSITE_profiles:PS50824	pyrin domain containing 2		T:0.001	T:0	ENSP00000428325	T:0	1-Jan	0.000898	0.00821	0.000692	0.00185		1.50E-05		6.06E-05	rs141891926,COSM1537451	1-Jan	common_variant		ENST00000518817	Transcript		T:0.0028		cytoplasm|nucleus		ENSG00000253548	g.chr3:191179074C>T	33512			LOW								--	--	1																																			0,1	1			p.T41T	NM_001083308	NP_001076777	T:0		0,1	PYDC2_HUMAN	PYDC2	HGNC	Q56P42	PYDC2_HUMAN					1	123	+			UPI00001609FF	41			DAPIN.		SNV	PYDC2,synonymous_variant,p.=,ENST00000518817,NM_001083308.1;	uc011bso.1	c.123C>T	123/294	2	2			c.123C>T						3	SNP	c.(121-123)ACC>ACT	34	34				0	Broad	pyrin domain containing 2			191179074		0.542	ENSG00000253548	12649	g.chr3:191179074C>T		cytoplasm|nucleus								-15.481526	KEEP	3	3	-1	49	67	3	3	-1	11.003312	49	67	0.042373	1	0	0	0	0	0	0	1	0	--	--		0	T				93	GBM-06-5410-TP	p.T41T	C	AGCTACAGACCGTCCCCCAGA	NM_001083308	NP_001076777	191179074	Q56P42	PYDC2_HUMAN	0			1	123	+	T	T			Silent	41			DAPIN.			
PYGB	0	broad.mit.edu	GRCh37	20	25255279	25255279	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216962.4:c.580C>T	p.Arg194Trp	p.R194W	ENST00000216962	NM_002862.3	194	Cgg/Tgg	0			1			T	R/W	uc002wup.2	protein_coding	YES	CCDS13171.1			580/2532									central_nervous_system(1)|skin(1)	2	c.(580-582)CGG>TGG			hmmpanther:PTHR11468,hmmpanther:PTHR11468:SF1,Gene3D:3.40.50.2000,TIGRFAM_domain:TIGR02093,Pfam_domain:PF00343,PIRSF_domain:PIRSF000460,Superfamily_domains:SSF53756	brain glycogen phosphorylase	Pyridoxal Phosphate(DB00114)			ENSP00000216962		20-May									COSM3404984	20-May	.		ENST00000216962	Transcript			glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	ENSG00000100994	g.chr20:25255279C>T	9723			MODERATE		4.17	high	getma.org/?cm=msa&ty=f&p=PYGB_HUMAN&rb=112&re=830&var=R194W	getma.org/pdb.php?prot=PYGB_HUMAN&from=112&to=830&var=R194W	getma.org/?cm=var&var=hg19,20,25255279,C,T&fts=all	R194W	--	--	1																																			1	1		probably_damaging(1)	p.R194W	NM_002862	NP_002853		deleterious(0)	1	PYGB_HUMAN	PYGB	HGNC	P11216	PYGB_HUMAN			Q8TDG6_HUMAN		5	689	+			UPI0000131A0A	194					SNV	PYGB,missense_variant,p.Arg194Trp,ENST00000216962,NM_002862.3;	uc002wup.2	c.580C>T	690/4134	1	1			c.580C>T						20	SNP	c.(580-582)CGG>TGG	16	16			central_nervous_system(1)|skin(1)	2	Broad	brain glycogen phosphorylase		Pyridoxal Phosphate(DB00114)	25255279		0.622	ENSG00000100994	12650	g.chr20:25255279C>T	glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding							-77.948322	KEEP	2	4	-1	173	180	2	4	-1	8.299308	173	180	0.018182	1	0	0	0	0	1	0	0	0	--	--		0	T				249	GBM-32-5222-TP	p.R194W	C	GGAGAAAGCGCGGCCTGAGTA	NM_002862	NP_002853	25255279	P11216	PYGB_HUMAN	0			5	689	+	T	T			Missense_Mutation	194						
PYGL	0	broad.mit.edu	GRCh37	14	51387718	51387718	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0787-01	TCGA-14-0787-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216392.7:c.728G>A	p.Arg243His	p.R243H	ENST00000216392	NM_002863.4	243	cGc/cAc	0			1			T	R/H	uc001wyu.2	protein_coding	YES	CCDS32080.1			728/2544									skin(1)	1	c.(727-729)CGC>CAC			hmmpanther:PTHR11468,hmmpanther:PTHR11468:SF6,Pfam_domain:PF00343,TIGRFAM_domain:TIGR02093,Gene3D:3.40.50.2000,PIRSF_domain:PIRSF000460,Superfamily_domains:SSF53756	liver glycogen phosphorylase isoform 1	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)			ENSP00000216392		20-Jun									COSM3401348	20-Jun	.		ENST00000216392	Transcript	1		glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	ENSG00000100504	g.chr14:51387718C>T	9725			MODERATE		2.395	medium	getma.org/?cm=msa&ty=f&p=PYGL_HUMAN&rb=112&re=830&var=R243H	getma.org/pdb.php?prot=PYGL_HUMAN&from=112&to=830&var=R243H	getma.org/?cm=var&var=hg19,14,51387718,C,T&fts=all	R243H	--	--	1																																		PYGL_uc010tqq.1_Missense_Mutation_p.R209H|PYGL_uc001wyv.2_5'UTR|PYGL_uc010anz.1_Missense_Mutation_p.R46H	1	1		probably_damaging(0.978)	p.R243H	NM_002863	NP_002854		deleterious(0)	1	PYGL_HUMAN	PYGL	HGNC	P06737	PYGL_HUMAN					6	855	-	all_epithelial(31;0.00825)|Breast(41;0.148)		UPI000011136E	243					SNV	PYGL,missense_variant,p.Arg243His,ENST00000216392,NM_002863.4;PYGL,missense_variant,p.Arg243His,ENST00000532462,;PYGL,missense_variant,p.Arg209His,ENST00000544180,NM_001163940.1;PYGL,non_coding_transcript_exon_variant,,ENST00000553872,;PYGL,downstream_gene_variant,,ENST00000530336,;	uc001wyu.2	c.728G>A	1061/3048	2	2			c.728G>A						14	SNP	c.(727-729)CGC>CAC	47	47			skin(1)	1	Broad	liver glycogen phosphorylase isoform 1		Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	51387718		0.502	ENSG00000100504	12651	g.chr14:51387718C>T	glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding							117.719317	KEEP	31	17	-1	52	42	31	17	-1	120.44797	52	42	0.341463	1	0	0	0	0	1	0	0	0	--	--		0	T			PYGL_uc010tqq.1_Missense_Mutation_p.R209H|PYGL_uc001wyv.2_5'UTR|PYGL_uc010anz.1_Missense_Mutation_p.R46H	135	GBM-14-0787-TP	p.R243H	C	AGACCAGAGGCGCATGGTGTT	NM_002863	NP_002854	51387718	P06737	PYGL_HUMAN	0			6	855	-	T	T	all_epithelial(31;0.00825)|Breast(41;0.148)		Missense_Mutation	243						
PYGM	0	broad.mit.edu	GRCh37	11	64521011	64521011	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000164139.3:c.1383C>T	p.Ser461=	p.S461=	ENST00000164139	NM_005609.2	461	tcC/tcT	0			1			A	S	uc001oax.3	protein_coding	YES	CCDS8079.1			1383/2529									ovary(2)	2	c.(1381-1383)TCC>TCT			Gene3D:3.40.50.2000,Pfam_domain:PF00343,PIRSF_domain:PIRSF000460,hmmpanther:PTHR11468,hmmpanther:PTHR11468:SF1,Superfamily_domains:SSF53756,TIGRFAM_domain:TIGR02093	muscle glycogen phosphorylase isoform 1	Pyridoxal Phosphate(DB00114)			ENSP00000164139		20-Nov	1.66E-05					6.86E-05			rs775978754,COSM3398022	20-Nov	.		ENST00000164139	Transcript	1		glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	ENSG00000068976	g.chr11:64521011G>A	9726			LOW								--	--	1																																		PYGM_uc001oay.3_Silent_p.S373S	0,1	1			p.S461S	NM_005609	NP_005600			0,1	PYGM_HUMAN	PYGM	HGNC	P11217	PYGM_HUMAN					11	2200	-			UPI000013C5AC	461					SNV	PYGM,synonymous_variant,p.=,ENST00000164139,NM_005609.2;PYGM,synonymous_variant,p.=,ENST00000377432,NM_001164716.1;PYGM,upstream_gene_variant,,ENST00000462303,;PYGM,downstream_gene_variant,,ENST00000460413,;PYGM,upstream_gene_variant,,ENST00000483742,;	uc001oax.3	c.1383C>T	1782/3198	2	2			c.1383C>T						11	SNP	c.(1381-1383)TCC>TCT	36	36			ovary(2)	2	Broad	muscle glycogen phosphorylase isoform 1		Pyridoxal Phosphate(DB00114)	64521011		0.652	ENSG00000068976	12652	g.chr11:64521011G>A	glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding							7.417424	KEEP	2	7	-1	9	6	2	7	-1	8.47261	9	6	0.214286	1	0	0	0	0	0	0	1	0	--	--		0	A			PYGM_uc001oay.3_Silent_p.S373S	190	GBM-27-1831-TP	p.S461S	G	TGAGGATCTCGGAGTGGATGC	NM_005609	NP_005600	64521011	P11217	PYGM_HUMAN	0			11	2200	-	A	A			Silent	461						
PYGM	0	broad.mit.edu	GRCh37	11	64514249	64514249	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01	TCGA-41-5651-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000164139.3:c.2411G>A	p.Arg804Gln	p.R804Q	ENST00000164139	NM_005609.2	804	cGg/cAg	0	T:0.0002		1			T	R/Q	uc001oax.3	protein_coding	YES	CCDS8079.1			2411/2529									ovary(2)	2	c.(2410-2412)CGG>CAG			Gene3D:3.40.50.2000,Pfam_domain:PF00343,PIRSF_domain:PIRSF000460,hmmpanther:PTHR11468,hmmpanther:PTHR11468:SF1,Superfamily_domains:SSF53756,TIGRFAM_domain:TIGR02093	muscle glycogen phosphorylase isoform 1	Pyridoxal Phosphate(DB00114)		T:0	ENSP00000164139		20/20	8.24E-06	9.61E-05							rs372295369,COSM3398021	20/20	.		ENST00000164139	Transcript	1		glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	ENSG00000068976	g.chr11:64514249C>T	9726			MODERATE		1.415	low	getma.org/?cm=msa&ty=f&p=PYGM_HUMAN&rb=112&re=830&var=R804Q	getma.org/pdb.php?prot=PYGM_HUMAN&from=112&to=830&var=R804Q	getma.org/?cm=var&var=hg19,11,64514249,C,T&fts=all	R804Q	--	--	1																																		RASGRP2_uc009ypu.2_5'Flank|RASGRP2_uc009ypv.2_5'Flank|RASGRP2_uc009ypw.2_5'Flank|RASGRP2_uc001oaw.1_5'Flank|PYGM_uc001oay.3_Missense_Mutation_p.R716Q	0,1	1		benign(0.058)	p.R804Q	NM_005609	NP_005600		tolerated(0.07)	0,1	PYGM_HUMAN	PYGM	HGNC	P11217	PYGM_HUMAN					20	3228	-			UPI000013C5AC	804					SNV	PYGM,missense_variant,p.Arg804Gln,ENST00000164139,NM_005609.2;PYGM,missense_variant,p.Arg716Gln,ENST00000377432,NM_001164716.1;RASGRP2,upstream_gene_variant,,ENST00000377494,;RASGRP2,upstream_gene_variant,,ENST00000354024,NM_153819.1;RASGRP2,upstream_gene_variant,,ENST00000394432,NM_001098671.1;RASGRP2,upstream_gene_variant,,ENST00000377497,NM_001098670.1;RASGRP2,upstream_gene_variant,,ENST00000394430,;RASGRP2,upstream_gene_variant,,ENST00000431822,;RASGRP2,upstream_gene_variant,,ENST00000377486,;RASGRP2,upstream_gene_variant,,ENST00000377487,;RASGRP2,upstream_gene_variant,,ENST00000430645,;RASGRP2,upstream_gene_variant,,ENST00000377489,;RASGRP2,upstream_gene_variant,,ENST00000394429,;RASGRP2,upstream_gene_variant,,ENST00000394428,;RASGRP2,upstream_gene_variant,,ENST00000377485,;RASGRP2,upstream_gene_variant,,ENST00000419843,;PYGM,downstream_gene_variant,,ENST00000462303,;PYGM,non_coding_transcript_exon_variant,,ENST00000483742,;RASGRP2,upstream_gene_variant,,ENST00000421556,;RASGRP2,upstream_gene_variant,,ENST00000445445,;RASGRP2,upstream_gene_variant,,ENST00000441258,;RASGRP2,upstream_gene_variant,,ENST00000480443,;	uc001oax.3	c.2411G>A	2810/3198	2	2			c.2411G>A						11	SNP	c.(2410-2412)CGG>CAG	24	24			ovary(2)	2	Broad	muscle glycogen phosphorylase isoform 1		Pyridoxal Phosphate(DB00114)	64514249		0.607	ENSG00000068976	12652	g.chr11:64514249C>T	glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding							110.02269	KEEP	18	19	-1	23	22	18	19	-1	110.049311	23	22	0.479452	1	0	0	0	0	1	0	0	0	--	--		0	T			RASGRP2_uc009ypu.2_5'Flank|RASGRP2_uc009ypv.2_5'Flank|RASGRP2_uc009ypw.2_5'Flank|RASGRP2_uc001oaw.1_5'Flank|PYGM_uc001oay.3_Missense_Mutation_p.R716Q	258	GBM-41-5651-TP	p.R804Q	C	GGCTATGTTCCGGATCACCAT	NM_005609	NP_005600	64514249	P11217	PYGM_HUMAN	0			20	3228	-	T	T			Missense_Mutation	804						
PYGO1	0	broad.mit.edu	GRCh37	15	55838924	55838927	+	frameshift_variant	Frame_Shift_Del	DEL	TGAC	TGAC	-			TCGA-76-6193-01	TCGA-76-6193-01	TGAC	TGAC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302000.6:c.554_557delGTCA	p.Ser185LysfsTer31	p.S185Kfs*31	ENST00000302000	NM_015617.2	185	aGTCAa/aa	0			1			-	SQ/X	uc010bfl.1	protein_coding	YES	CCDS10155.1			554-557/1260									ovary(1)|skin(1)	2	c.(553-558)AGTCAAfs			hmmpanther:PTHR23194:SF3,hmmpanther:PTHR23194	pygopus homolog 1				ENSP00000302327		3-Mar										3-Mar	.		ENST00000302000	Transcript			Wnt receptor signaling pathway	nucleus	zinc ion binding	ENSG00000171016	g.chr15:55838924_55838927delTGAC	30256			HIGH								--	--	1																																		PYGO1_uc002adf.1_Frame_Shift_Del_p.S185fs		1			p.S185fs	NM_015617	NP_056432				PYGO1_HUMAN	PYGO1	HGNC	Q9Y3Y4	PYGO1_HUMAN		all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)			3	610_613	-			UPI00000510D0	185_186			Asn-rich.		deletion	PYGO1,frameshift_variant,p.Ser185LysfsTer31,ENST00000302000,NM_015617.2;PYGO1,frameshift_variant,p.Ser185LysfsTer31,ENST00000563719,;	uc010bfl.1	c.554_557delGTCA	649-652/8488	5	5			c.554_557delGTCA						15	DEL	c.(553-558)AGTCAAfs	13	13			ovary(1)|skin(1)	2	Broad	pygopus homolog 1			55838927		0.333	ENSG00000171016	12653	g.chr15:55838924_55838927delTGAC	Wnt receptor signaling pathway	nucleus	zinc ion binding																				0.24	1	1	0	1	0	0	0	0	0	--	--		0	-			PYGO1_uc002adf.1_Frame_Shift_Del_p.S185fs	276	GBM-76-6193-TP	p.S185fs	TGAC	TGGAGGAATTTGACTGAAATTTTC	NM_015617	NP_056432	55838924	Q9Y3Y4	PYGO1_HUMAN	0		all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)	3	610_613	-	-	-			Frame_Shift_Del	185_186			Asn-rich.			
PYHIN1	149628	broad.mit.edu	GRCh37	1	158912123	158912123	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-02-0055-01	TCGA-02-0055-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368140.1:c.936G>A	p.Pro312=	p.P312=	ENST00000368140	NM_152501.4	312	ccG/ccA	0		A:0.0008	1	A:0		A	P	uc001ftb.2	protein_coding	YES	CCDS1178.1			936/1479									ovary(3)|pancreas(1)	4	c.(934-936)CCG>CCA			Gene3D:2.40.50.140,Pfam_domain:PF02760,PROSITE_profiles:PS50834,hmmpanther:PTHR12200,hmmpanther:PTHR12200:SF14,Superfamily_domains:SSF159141	pyrin and HIN domain family, member 1 alpha 1		A:0		ENSP00000357122	A:0	9-May	0.000288	9.88E-05	0.000174	0.000927				0.00147	rs549850036,COSM381749,COSM1747846	9-May	common_variant		ENST00000368140	Transcript		A:0.0006	cell cycle	nuclear speck		ENSG00000163564	g.chr1:158912123G>A	28894			LOW								--	--	1																																		PYHIN1_uc001ftc.2_Silent_p.P303P|PYHIN1_uc001ftd.2_Silent_p.P312P|PYHIN1_uc001fte.2_Silent_p.P303P	0,1,1	1			p.P312P	NM_152501	NP_689714	A:0.002		0,1,1	IFIX_HUMAN	PYHIN1	HGNC	Q6K0P9	IFIX_HUMAN					5	1181	+	all_hematologic(112;0.0378)		UPI0000225618	312			HIN-200.		SNV	PYHIN1,synonymous_variant,p.=,ENST00000368140,NM_152501.4,NM_198928.4,NM_198929.4;PYHIN1,synonymous_variant,p.=,ENST00000368138,;PYHIN1,synonymous_variant,p.=,ENST00000392254,;PYHIN1,synonymous_variant,p.=,ENST00000392252,NM_198930.3;PYHIN1,downstream_gene_variant,,ENST00000368135,;PYHIN1,downstream_gene_variant,,ENST00000458222,;PYHIN1,non_coding_transcript_exon_variant,,ENST00000485134,;	uc001ftb.2	c.936G>A	1181/2083	1	1			c.936G>A						1	SNP	c.(934-936)CCG>CCA	53	53			ovary(3)|pancreas(1)	4	Broad	pyrin and HIN domain family, member 1 alpha 1			158912123		0.378	ENSG00000163564	12655	g.chr1:158912123G>A	cell cycle	nuclear speck								123.756847	KEEP	21	21	-1	28	40	21	21	-1	124.613435	28	40	0.401961	1	0	0	0	0	0	0	1	0	--	--		0	A			PYHIN1_uc001ftc.2_Silent_p.P303P|PYHIN1_uc001ftd.2_Silent_p.P312P|PYHIN1_uc001fte.2_Silent_p.P303P	4	GBM-02-0055-TP	p.P312P	G	AGAAAATTCCGAAGATCAATA	NM_152501	NP_689714	158912123	Q6K0P9	IFIX_HUMAN	0			5	1181	+	A	A	all_hematologic(112;0.0378)		Silent	312			HIN-200.			
PYHIN1	149628	broad.mit.edu	GRCh37	1	158914718	158914718	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-0169-01	TCGA-06-0169-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368140.1:c.1245C>A	p.Pro415=	p.P415=	ENST00000368140	NM_152501.4	415	ccC/ccA	0			1			A	P	uc001ftb.2	protein_coding	YES	CCDS1178.1			1245/1479									ovary(3)|pancreas(1)	4	c.(1243-1245)CCC>CCA			hmmpanther:PTHR12200,hmmpanther:PTHR12200:SF14	pyrin and HIN domain family, member 1 alpha 1				ENSP00000357122		9-Jul									COSM2150279,COSM2150280	9-Jul	.		ENST00000368140	Transcript			cell cycle	nuclear speck		ENSG00000163564	g.chr1:158914718C>A	28894			LOW								--	--	1																																		PYHIN1_uc001ftc.2_Silent_p.P406P|PYHIN1_uc001ftd.2_Silent_p.P415P|PYHIN1_uc001fte.2_Silent_p.P406P	1,1	1			p.P415P	NM_152501	NP_689714			1,1	IFIX_HUMAN	PYHIN1	HGNC	Q6K0P9	IFIX_HUMAN					7	1490	+	all_hematologic(112;0.0378)		UPI0000225618	415					SNV	PYHIN1,synonymous_variant,p.=,ENST00000368140,NM_152501.4,NM_198928.4,NM_198929.4;PYHIN1,synonymous_variant,p.=,ENST00000368138,;PYHIN1,synonymous_variant,p.=,ENST00000392254,;PYHIN1,synonymous_variant,p.=,ENST00000392252,NM_198930.3;PYHIN1,downstream_gene_variant,,ENST00000368135,;PYHIN1,non_coding_transcript_exon_variant,,ENST00000485134,;	uc001ftb.2	c.1245C>A	1490/2083	2	2			c.1245C>A						1	SNP	c.(1243-1245)CCC>CCA	45	45			ovary(3)|pancreas(1)	4	Broad	pyrin and HIN domain family, member 1 alpha 1			158914718		0.433	ENSG00000163564	12655	g.chr1:158914718C>A	cell cycle	nuclear speck								113.283079	KEEP	14	26	0.65	45	45	14	26	0.65	116.544395	45	45	0.325	1	0	0	0	0	0	0	1	0	--	--		0	A			PYHIN1_uc001ftc.2_Silent_p.P406P|PYHIN1_uc001ftd.2_Silent_p.P415P|PYHIN1_uc001fte.2_Silent_p.P406P	34	GBM-06-0169-TP	p.P415P	C	TGGCACTACCCCAGGAACAGA	NM_152501	NP_689714	158914718	Q6K0P9	IFIX_HUMAN	0			7	1490	+	A	A	all_hematologic(112;0.0378)		Silent	415						
PYHIN1	149628		GRCh37	1	158914677	158914677	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000368140.1:c.1204A>G	p.Thr402Ala	p.T402A	ENST00000368140	NM_152501.4	402	Aca/Gca	0																																																																																																																																																																																																																																												
PZP	5858	broad.mit.edu	GRCh37	12	9345129	9345129	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261336.2:c.1461G>A	p.Ser487=	p.S487=	ENST00000261336	NM_002864.2	487	tcG/tcA	0	T:0.0002		1			T	S	uc001qvl.2	protein_coding	YES	CCDS8600.1			1461/4449									ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5	c.(1459-1461)TCG>TCA			Pfam_domain:PF07703,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF87	pregnancy-zone protein precursor			T:0	ENSP00000261336		Dec-36									rs374450463,COSM3399180,COSM3399181	Dec-36	.		ENST00000261336	Transcript						ENSG00000126838	g.chr12:9345129C>T	9750			LOW								--	--	1																																		PZP_uc009zgl.2_Silent_p.S356S	0,1,1	1			p.S487S	NM_002864	NP_002855			0,1,1	PZP_HUMAN	PZP	HGNC							12	1490	-			UPI000013D168						SNV	PZP,synonymous_variant,p.=,ENST00000261336,NM_002864.2;PZP,synonymous_variant,p.=,ENST00000381997,;PZP,3_prime_UTR_variant,,ENST00000535230,;	uc001qvl.2	c.1461G>A	1490/4610	2	2			c.1461G>A						12	SNP	c.(1459-1461)TCG>TCA	22	22			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5	Broad	pregnancy-zone protein precursor			9345129		0.483	ENSG00000126838	12659	g.chr12:9345129C>T				Melanoma(125;1402 1695 4685 34487 38571)			Melanoma(125;1402 1695 4685 34487 38571)			-16.418432	KEEP	4	3	-1	67	64	4	3	-1	9.54599	67	64	0.043103	1	0	0	0	0	0	0	1	0	--	--		0	T			PZP_uc009zgl.2_Silent_p.S356S	62	GBM-06-0649-TP	p.S487S	C	AACTGAGCTCCGATAACTCTC	NM_002864	NP_002855	9345129			0			12	1490	-	T	T			Silent							
PZP	0	broad.mit.edu	GRCh37	12	9345184	9345184	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01	TCGA-06-6695-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261336.2:c.1406C>T	p.Thr469Met	p.T469M	ENST00000261336	NM_002864.2	469	aCg/aTg	0			1			A	T/M	uc001qvl.2	protein_coding	YES	CCDS8600.1			1406/4449									ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5	c.(1405-1407)ACG>ATG			Pfam_domain:PF07703,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF87	pregnancy-zone protein precursor				ENSP00000261336		Dec-36	8.24E-06					1.50E-05			rs748511482,COSM249303,COSM249304	Dec-36	.		ENST00000261336	Transcript						ENSG00000126838	g.chr12:9345184G>A	9750			MODERATE		2.155	medium	getma.org/?cm=msa&ty=f&p=PZP_HUMAN&rb=455&re=603&var=T469M	getma.org/pdb.php?prot=PZP_HUMAN&from=455&to=603&var=T469M	getma.org/?cm=var&var=hg19,12,9345184,G,A&fts=all	T469M	--	--	1																																		PZP_uc009zgl.2_Missense_Mutation_p.T338M	0,1,1	1		possibly_damaging(0.787)	p.T469M	NM_002864	NP_002855		tolerated(0.09)	0,1,1	PZP_HUMAN	PZP	HGNC							12	1435	-			UPI000013D168						SNV	PZP,missense_variant,p.Thr469Met,ENST00000261336,NM_002864.2;PZP,missense_variant,p.Thr338Met,ENST00000381997,;PZP,3_prime_UTR_variant,,ENST00000535230,;	uc001qvl.2	c.1406C>T	1435/4610	2	2			c.1406C>T						12	SNP	c.(1405-1407)ACG>ATG	39	39			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5	Broad	pregnancy-zone protein precursor			9345184		0.512	ENSG00000126838	12659	g.chr12:9345184G>A				Melanoma(125;1402 1695 4685 34487 38571)			Melanoma(125;1402 1695 4685 34487 38571)			99.863022	KEEP	25	17	-1	37	27	25	17	-1	100.875881	37	27	0.389474	1	0	0	0	0	1	0	0	0	--	--		0	A			PZP_uc009zgl.2_Missense_Mutation_p.T338M	110	GBM-06-6695-TP	p.T469M	G	GATAGTCTCCGTGTGGCCACA	NM_002864	NP_002855	9345184			0			12	1435	-	A	A			Missense_Mutation							
PZP	0	broad.mit.edu	GRCh37	12	9346769	9346769	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261336.2:c.1158C>T	p.Asp386=	p.D386=	ENST00000261336	NM_002864.2	386	gaC/gaT	0		A:0.0008	1	A:0		A	D	uc001qvl.2	protein_coding	YES	CCDS8600.1			1158/4449									ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5	c.(1156-1158)GAC>GAT			hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF87	pregnancy-zone protein precursor		A:0		ENSP00000261336	A:0	Nov-36	1.65E-05	9.61E-05		0.000116					rs752019492,COSM2154789,COSM2154790	Nov-36	.		ENST00000261336	Transcript						ENSG00000126838	g.chr12:9346769G>A	9750			LOW								--	--	1																																		PZP_uc009zgl.2_Silent_p.D255D	0,1,1	1			p.D386D	NM_002864	NP_002855	A:0		0,1,1	PZP_HUMAN	PZP	HGNC							11	1187	-			UPI000013D168						SNV	PZP,synonymous_variant,p.=,ENST00000261336,NM_002864.2;PZP,synonymous_variant,p.=,ENST00000381997,;PZP,3_prime_UTR_variant,,ENST00000535230,;	uc001qvl.2	c.1158C>T	1187/4610	2	2			c.1158C>T						12	SNP	c.(1156-1158)GAC>GAT	29	29			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5	Broad	pregnancy-zone protein precursor			9346769		0.408	ENSG00000126838	12659	g.chr12:9346769G>A				Melanoma(125;1402 1695 4685 34487 38571)			Melanoma(125;1402 1695 4685 34487 38571)			159.728886	KEEP	31	28	-1	60	52	31	28	-1	162.976711	60	52	0.349693	1	0	0	0	0	0	0	1	0	--	--		0	A			PZP_uc009zgl.2_Silent_p.D255D	139	GBM-14-0817-TP	p.D386D	G	AATAATTGGCGTCATTCACAG	NM_002864	NP_002855	9346769			0			11	1187	-	A	A			Silent							
QARS1	5859	broad.mit.edu	GRCh37	3	49142151	49142151	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-6390-01	TCGA-06-6390-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306125.6:c.16T>C	p.Ser6Pro	p.S6P	ENST00000306125	NM_001272073.1	6	Tcc/Ccc	0			1			G	S/P	uc003cvx.2	protein_coding	YES	CCDS2788.1			16/2328									ovary(1)	1	c.(16-18)TCC>CCC			Pfam_domain:PF04558,hmmpanther:PTHR10119,hmmpanther:PTHR10119:SF17	glutaminyl-tRNA synthetase	L-Glutamine(DB00130)			ENSP00000307567		24-Jan	8.24E-06					1.54E-05			rs747163409,COSM2153459	24-Jan	.		ENST00000306125	Transcript	1		glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	ENSG00000172053	g.chr3:49142151A>G	9751			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=SYQ_HUMAN&rb=1&re=163&var=S6P	NA	getma.org/?cm=var&var=hg19,3,49142151,A,G&fts=all	S6P	4.51	high	1																																		QARS_uc011bcd.1_5'Flank|QARS_uc003cvy.2_5'UTR|QARS_uc011bce.1_Missense_Mutation_p.S6P|QARS_uc011bcf.1_Missense_Mutation_p.S6P	0,1	1		benign(0.001)	p.S6P	NM_005051	NP_005042		tolerated(0.28)	0,1	SYQ_HUMAN	QARS	HGNC	P47897	SYQ_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	Q9H3A5_HUMAN,Q9BUZ3_HUMAN,B4DDN1_HUMAN		1	21	-			UPI000013661E	6					SNV	QARS,missense_variant,p.Ser6Pro,ENST00000306125,NM_001272073.1,NM_005051.2;QARS,missense_variant,p.Ser6Pro,ENST00000414533,;QARS,missense_variant,p.Ser24Pro,ENST00000420147,;QARS,missense_variant,p.Ser6Pro,ENST00000452739,;QARS,missense_variant,p.Ser6Pro,ENST00000417025,;USP19,downstream_gene_variant,,ENST00000453664,NM_001199161.1,NM_001199162.1;USP19,downstream_gene_variant,,ENST00000417901,;USP19,downstream_gene_variant,,ENST00000434032,NM_001199160.1;USP19,downstream_gene_variant,,ENST00000398892,;USP19,downstream_gene_variant,,ENST00000398888,NM_006677.2;USP19,downstream_gene_variant,,ENST00000398898,;USP19,downstream_gene_variant,,ENST00000398896,;QARS,intron_variant,,ENST00000470619,;QARS,intron_variant,,ENST00000479495,;QARS,upstream_gene_variant,,ENST00000470225,;QARS,upstream_gene_variant,,ENST00000482468,;QARS,missense_variant,p.Ser6Pro,ENST00000430182,;QARS,missense_variant,p.Ser6Pro,ENST00000418549,;QARS,non_coding_transcript_exon_variant,,ENST00000482261,;QARS,non_coding_transcript_exon_variant,,ENST00000482438,;QARS,upstream_gene_variant,,ENST00000464962,;QARS,upstream_gene_variant,,ENST00000494838,;QARS,upstream_gene_variant,,ENST00000478561,;QARS,upstream_gene_variant,,ENST00000494767,;	uc003cvx.2	c.16T>C	354/2763	3	3			c.16T>C						3	SNP	c.(16-18)TCC>CCC	8	8			ovary(1)	1	Broad	glutaminyl-tRNA synthetase		L-Glutamine(DB00130)	49142151		0.602	ENSG00000172053	12661	g.chr3:49142151A>G	glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding							51.31059	KEEP	13	9	-1	37	41	13	9	-1	57.073196	37	41	0.22619	1	0	0	0	0	1	0	0	0	4.51	high		0	G			QARS_uc011bcd.1_5'Flank|QARS_uc003cvy.2_5'UTR|QARS_uc011bce.1_Missense_Mutation_p.S6P|QARS_uc011bcf.1_Missense_Mutation_p.S6P	106	GBM-06-6390-TP	p.S6P	A	AGCGACAGGGAGTCTAGAGCC	NM_005051	NP_005042	49142151	P47897	SYQ_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	1	21	-	G	G			Missense_Mutation	6						
QARS1	5859		GRCh37	3	49136953	49136953	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000306125.6:c.1516G>T	p.Gly506Cys	p.G506C	ENST00000306125	NM_001272073.1	506	Ggt/Tgt	0																																																																																																																																																																																																																																												
QKI	9444	broad.mit.edu	GRCh37	6	163984752	163984755	+	splice_donor_variant,intron_variant	Splice_Site	DEL	GTAA	GTAA	-			TCGA-06-0237-01	TCGA-06-0237-01	GTAA	GTAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361752.3:c.934+3_934+6del		p.X312_splice	ENST00000361752	NM_006775.2	312		0			1			-		uc003qui.2	protein_coding	YES	CCDS5285.1			934/1026									large_intestine(1)|ovary(1)	2	c.e6+1				quaking homolog, KH domain RNA binding isoform				ENSP00000355094													.		ENST00000361752	Transcript			mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	ENSG00000112531	g.chr6:163984752_163984755delGTAA	21100	2		HIGH	7-Jun							--	--	1																																		QKI_uc003que.2_Frame_Shift_Del_p.G312fs|QKI_uc003quf.2_Splice_Site_p.E312_splice|QKI_uc003qug.2_Splice_Site_p.G312_splice|QKI_uc003quh.2_Splice_Site_p.E304_splice|QKI_uc003quj.2_Splice_Site_p.G304_splice		1			p.G312_splice	NM_006775	NP_006766				QKI_HUMAN	QKI	HGNC	Q96PU8	QKI_HUMAN		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	F5H8C8_HUMAN,F5H5U6_HUMAN,F5GYM3_HUMAN		6	1485	+		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)	UPI0000029EBD						deletion	QKI,splice_donor_variant,,ENST00000361752,NM_006775.2,NM_206855.2,NM_206854.2,NM_206853.2;QKI,splice_donor_variant,,ENST00000275262,;QKI,splice_donor_variant,,ENST00000453779,;QKI,splice_donor_variant,,ENST00000537883,;QKI,splice_donor_variant,,ENST00000361195,;QKI,splice_donor_variant,,ENST00000424802,;QKI,splice_donor_variant,,ENST00000544361,;QKI,frameshift_variant,p.Lys313SerfsTer41,ENST00000392127,;QKI,downstream_gene_variant,,ENST00000544823,;QKI,downstream_gene_variant,,ENST00000537041,;QKI,splice_donor_variant,,ENST00000361758,;QKI,splice_donor_variant,,ENST00000545607,;QKI,splice_donor_variant,,ENST00000540719,;QKI,upstream_gene_variant,,ENST00000541696,;	uc003qui.2	c.934_splice	-/9463	5	5			c.934_splice						6	DEL	c.e6+1	54	54			large_intestine(1)|ovary(1)	2	Broad	quaking homolog, KH domain RNA binding isoform			163984755		0.387	ENSG00000112531	12663	g.chr6:163984752_163984755delGTAA	mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding																				0.4	1	1	0	1	0	0	0	0	1	--	--		0	-			QKI_uc003que.2_Frame_Shift_Del_p.G312fs|QKI_uc003quf.2_Splice_Site_p.E312_splice|QKI_uc003qug.2_Splice_Site_p.G312_splice|QKI_uc003quh.2_Splice_Site_p.E304_splice|QKI_uc003quj.2_Splice_Site_p.G304_splice	54	GBM-06-0237-TP	p.G312_splice	GTAA	GGTGTATTAGGTAAGTTCTTCTCC	NM_006775	NP_006766	163984752	Q96PU8	QKI_HUMAN	0		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	6	1485	+	-	-		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)	Splice_Site							
QKI	9444	broad.mit.edu	GRCh37	6	163956153	163956153	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0650-01	TCGA-06-0650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361752.3:c.542C>G	p.Pro181Arg	p.P181R	ENST00000361752	NM_006775.2	181	cCt/cGt	0			1			G	P/R	uc003qui.2	protein_coding	YES	CCDS5285.1			542/1026									large_intestine(1)|ovary(1)	2	c.(541-543)CCT>CGT			Gene3D:3.30.1370.10,hmmpanther:PTHR11208,hmmpanther:PTHR11208:SF36,Superfamily_domains:SSF54791	quaking homolog, KH domain RNA binding isoform				ENSP00000355094		8-Apr									COSM3410774,COSM3410775,COSM3410776,COSM3410777	8-Apr	.		ENST00000361752	Transcript			mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	ENSG00000112531	g.chr6:163956153C>G	21100			MODERATE		2.375	medium	getma.org/?cm=msa&ty=f&p=QKI_HUMAN&rb=180&re=341&var=P181R	getma.org/pdb.php?prot=QKI_HUMAN&from=180&to=341&var=P181R	getma.org/?cm=var&var=hg19,6,163956153,C,G&fts=all	P181R	--	--	1																																		QKI_uc003que.2_Missense_Mutation_p.P181R|QKI_uc003quf.2_Missense_Mutation_p.P181R|QKI_uc003qug.2_Missense_Mutation_p.P181R|QKI_uc003quh.2_Missense_Mutation_p.P181R|QKI_uc003quj.2_Missense_Mutation_p.P181R	1,1,1,1	1		probably_damaging(0.999)	p.P181R	NM_006775	NP_006766		deleterious(0.04)	1,1,1,1	QKI_HUMAN	QKI	HGNC	Q96PU8	QKI_HUMAN		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	F5H8C8_HUMAN,F5H5U6_HUMAN,F5GYM3_HUMAN		4	1093	+		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)	UPI0000029EBD	181					SNV	QKI,missense_variant,p.Pro181Arg,ENST00000361752,NM_006775.2,NM_206855.2,NM_206854.2,NM_206853.2;QKI,missense_variant,p.Pro181Arg,ENST00000392127,;QKI,missense_variant,p.Pro181Arg,ENST00000275262,;QKI,missense_variant,p.Pro181Arg,ENST00000453779,;QKI,missense_variant,p.Pro78Arg,ENST00000537883,;QKI,missense_variant,p.Pro181Arg,ENST00000361195,;QKI,missense_variant,p.Pro181Arg,ENST00000424802,;QKI,missense_variant,p.Pro15Arg,ENST00000544361,;QKI,missense_variant,p.Pro126Arg,ENST00000544823,;QKI,missense_variant,p.Pro126Arg,ENST00000537041,;QKI,downstream_gene_variant,,ENST00000544436,;QKI,missense_variant,p.Pro181Arg,ENST00000361758,;QKI,3_prime_UTR_variant,,ENST00000545607,;QKI,non_coding_transcript_exon_variant,,ENST00000540719,;QKI,downstream_gene_variant,,ENST00000545346,;	uc003qui.2	c.542C>G	1093/9463	3	3			c.542C>G						6	SNP	c.(541-543)CCT>CGT	64	64			large_intestine(1)|ovary(1)	2	Broad	quaking homolog, KH domain RNA binding isoform			163956153		0.333	ENSG00000112531	12663	g.chr6:163956153C>G	mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding							21.058448	KEEP	8	6	-1	43	48	8	6	-1	31.605139	43	48	0.141176	1	0	0	0	0	1	0	0	0	--	--		0	G			QKI_uc003que.2_Missense_Mutation_p.P181R|QKI_uc003quf.2_Missense_Mutation_p.P181R|QKI_uc003qug.2_Missense_Mutation_p.P181R|QKI_uc003quh.2_Missense_Mutation_p.P181R|QKI_uc003quj.2_Missense_Mutation_p.P181R	63	GBM-06-0650-TP	p.P181R	C	TTATTGGTACCTGCAGTAAGT	NM_006775	NP_006766	163956153	Q96PU8	QKI_HUMAN	0		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	4	1093	+	G	G		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)	Missense_Mutation	181						
QKI	0	broad.mit.edu	GRCh37	6	163984582	163984585	+	frameshift_variant	Frame_Shift_Del	DEL	CAGA	CAGA	-			TCGA-28-5207-01	TCGA-28-5207-01	CAGA	CAGA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361752.3:c.767_770delGACA	p.Arg256LysfsTer18	p.R256Kfs*18	ENST00000361752	NM_006775.2	255	atCAGA/at	0			1			-	IR/X	uc003qui.2	protein_coding	YES	CCDS5285.1			765-768/1026									large_intestine(1)|ovary(1)	2	c.(763-768)ATCAGAfs			hmmpanther:PTHR11208,hmmpanther:PTHR11208:SF36	quaking homolog, KH domain RNA binding isoform				ENSP00000355094		8-Jun										8-Jun	.		ENST00000361752	Transcript			mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	ENSG00000112531	g.chr6:163984582_163984585delCAGA	21100	2		HIGH								--	--	1																																		QKI_uc003que.2_Frame_Shift_Del_p.I255fs|QKI_uc003quf.2_Frame_Shift_Del_p.I255fs|QKI_uc003qug.2_Frame_Shift_Del_p.I255fs|QKI_uc003quh.2_Frame_Shift_Del_p.I247fs|QKI_uc003quj.2_Frame_Shift_Del_p.I247fs		1			p.I255fs	NM_006775	NP_006766				QKI_HUMAN	QKI	HGNC	Q96PU8	QKI_HUMAN		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	F5H8C8_HUMAN,F5H5U6_HUMAN,F5GYM3_HUMAN		6	1316_1319	+		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)	UPI0000029EBD	255_256					deletion	QKI,frameshift_variant,p.Arg256LysfsTer18,ENST00000361752,NM_006775.2,NM_206855.2,NM_206854.2,NM_206853.2;QKI,frameshift_variant,p.Arg256LysfsTer18,ENST00000392127,;QKI,frameshift_variant,p.Arg256LysfsTer18,ENST00000275262,;QKI,frameshift_variant,p.Arg256LysfsTer18,ENST00000453779,;QKI,frameshift_variant,p.Arg153LysfsTer18,ENST00000537883,;QKI,frameshift_variant,p.Arg248LysfsTer18,ENST00000361195,;QKI,frameshift_variant,p.Arg248LysfsTer18,ENST00000424802,;QKI,frameshift_variant,p.Arg90LysfsTer18,ENST00000544361,;QKI,downstream_gene_variant,,ENST00000544823,;QKI,downstream_gene_variant,,ENST00000537041,;QKI,frameshift_variant,p.Arg256LysfsTer18,ENST00000361758,;QKI,3_prime_UTR_variant,,ENST00000545607,;QKI,non_coding_transcript_exon_variant,,ENST00000540719,;QKI,upstream_gene_variant,,ENST00000541696,;	uc003qui.2	c.765_768delCAGA	1316-1319/9463	5	5			c.765_768delCAGA						6	DEL	c.(763-768)ATCAGAfs	32	32			large_intestine(1)|ovary(1)	2	Broad	quaking homolog, KH domain RNA binding isoform			163984585		0.554	ENSG00000112531	12663	g.chr6:163984582_163984585delCAGA	mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding																				0.45	1	1	0	1	0	0	0	0	0	--	--		0	-			QKI_uc003que.2_Frame_Shift_Del_p.I255fs|QKI_uc003quf.2_Frame_Shift_Del_p.I255fs|QKI_uc003qug.2_Frame_Shift_Del_p.I255fs|QKI_uc003quh.2_Frame_Shift_Del_p.I247fs|QKI_uc003quj.2_Frame_Shift_Del_p.I247fs	216	GBM-28-5207-TP	p.I255fs	CAGA	TGCCTTTGATCAGACAAATACAGA	NM_006775	NP_006766	163984582	Q96PU8	QKI_HUMAN	0		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	6	1316_1319	+	-	-		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)	Frame_Shift_Del	255_256						
QKI	0	broad.mit.edu	GRCh37	6	163899821	163899821	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-28-5208-01	TCGA-28-5208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361752.3:c.295delG	p.Val99LeufsTer31	p.V99Lfs*31	ENST00000361752	NM_006775.2	99	Gtt/tt	0			1			-	V/X	uc003qui.2	protein_coding	YES	CCDS5285.1			295/1026									large_intestine(1)|ovary(1)	2	c.(295-297)GTTfs			Gene3D:3.30.1370.10,Pfam_domain:PF00013,hmmpanther:PTHR11208,hmmpanther:PTHR11208:SF36,SMART_domains:SM00322,Superfamily_domains:SSF54791	quaking homolog, KH domain RNA binding isoform				ENSP00000355094		8-Mar										8-Mar	.		ENST00000361752	Transcript			mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	ENSG00000112531	g.chr6:163899821delG	21100			HIGH								--	--	1																																		QKI_uc003que.2_Frame_Shift_Del_p.V99fs|QKI_uc003quf.2_Frame_Shift_Del_p.V99fs|QKI_uc003qug.2_Frame_Shift_Del_p.V99fs|QKI_uc003quh.2_Frame_Shift_Del_p.V99fs|QKI_uc003quj.2_Frame_Shift_Del_p.V99fs		1			p.V99fs	NM_006775	NP_006766				QKI_HUMAN	QKI	HGNC	Q96PU8	QKI_HUMAN		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	F5H8C8_HUMAN,F5H5U6_HUMAN,F5GYM3_HUMAN		3	846	+		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)	UPI0000029EBD	99			KH.		deletion	QKI,frameshift_variant,p.Val99LeufsTer31,ENST00000361752,NM_006775.2,NM_206855.2,NM_206854.2,NM_206853.2;QKI,frameshift_variant,p.Val99LeufsTer31,ENST00000392127,;QKI,frameshift_variant,p.Val99LeufsTer31,ENST00000275262,;QKI,frameshift_variant,p.Val99LeufsTer31,ENST00000453779,;QKI,frameshift_variant,p.Val99LeufsTer31,ENST00000361195,;QKI,frameshift_variant,p.Val99LeufsTer31,ENST00000424802,;QKI,frameshift_variant,p.Val44LeufsTer31,ENST00000544823,;QKI,frameshift_variant,p.Val44LeufsTer31,ENST00000537041,;QKI,frameshift_variant,p.Val44LeufsTer?,ENST00000537124,;QKI,frameshift_variant,p.Val44LeufsTer31,ENST00000544436,;QKI,intron_variant,,ENST00000537883,;QKI,frameshift_variant,p.Val99LeufsTer31,ENST00000361758,;QKI,3_prime_UTR_variant,,ENST00000545607,;QKI,3_prime_UTR_variant,,ENST00000545346,;	uc003qui.2	c.295delG	846/9463	5	5			c.295delG						6	DEL	c.(295-297)GTTfs	11	11			large_intestine(1)|ovary(1)	2	Broad	quaking homolog, KH domain RNA binding isoform			163899821		0.358	ENSG00000112531	12663	g.chr6:163899821delG	mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding																				0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			QKI_uc003que.2_Frame_Shift_Del_p.V99fs|QKI_uc003quf.2_Frame_Shift_Del_p.V99fs|QKI_uc003qug.2_Frame_Shift_Del_p.V99fs|QKI_uc003quh.2_Frame_Shift_Del_p.V99fs|QKI_uc003quj.2_Frame_Shift_Del_p.V99fs	217	GBM-28-5208-TP	p.V99fs	G	GTTTAATTTTGTTGGGAGAAT	NM_006775	NP_006766	163899821	Q96PU8	QKI_HUMAN	0		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	3	846	+	-	-		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)	Frame_Shift_Del	99			KH.			
QPCT	0	broad.mit.edu	GRCh37	2	37599531	37599531	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338415.3:c.856G>A	p.Asp286Asn	p.D286N	ENST00000338415	NM_012413.3	286	Gat/Aat	0			1			A	D/N	uc002rqg.2	protein_coding	YES	CCDS1790.1			856/1086									central_nervous_system(1)	1	c.(856-858)GAT>AAT			hmmpanther:PTHR12283,hmmpanther:PTHR12283:SF5,Pfam_domain:PF04389,Gene3D:3.40.630.10,Superfamily_domains:SSF53187	glutaminyl-peptide cyclotransferase precursor				ENSP00000344829		7-Jun									COSM3183706	7-Jun	.		ENST00000338415	Transcript			peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding	ENSG00000115828	g.chr2:37599531G>A	9753			MODERATE		0.3	neutral	getma.org/?cm=msa&ty=f&p=QPCT_HUMAN&rb=133&re=345&var=D286N	getma.org/pdb.php?prot=QPCT_HUMAN&from=133&to=345&var=D286N	getma.org/?cm=var&var=hg19,2,37599531,G,A&fts=all	D286N	--	--	1																																		QPCT_uc002rqh.2_Missense_Mutation_p.D237N	1	1		benign(0.004)	p.D286N	NM_012413	NP_036545		tolerated(0.57)	1	QPCT_HUMAN	QPCT	HGNC	Q16769	QPCT_HUMAN					6	978	+		Ovarian(717;0.051)|all_hematologic(82;0.21)	UPI000000DC4F	286					SNV	QPCT,missense_variant,p.Asp286Asn,ENST00000338415,NM_012413.3;QPCT,missense_variant,p.Asp237Asn,ENST00000537448,;QPCT,missense_variant,p.Asp237Asn,ENST00000404976,;QPCT,missense_variant,p.Asp51Asn,ENST00000444022,;QPCT,non_coding_transcript_exon_variant,,ENST00000469098,;QPCT,downstream_gene_variant,,ENST00000480050,;	uc002rqg.2	c.856G>A	1014/1739	1	1			c.856G>A						2	SNP	c.(856-858)GAT>AAT	61	61			central_nervous_system(1)	1	Broad	glutaminyl-peptide cyclotransferase precursor			37599531		0.328	ENSG00000115828	12664	g.chr2:37599531G>A	peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding							166.36306	KEEP	40	33	-1	145	78	40	33	-1	179.944184	145	78	0.254032	1	0	0	0	0	1	0	0	0	--	--		0	A			QPCT_uc002rqh.2_Missense_Mutation_p.D237N	240	GBM-32-2632-TP	p.D286N	G	TTTGCTCAAGGATCACTCTTT	NM_012413	NP_036545	37599531	Q16769	QPCT_HUMAN	0			6	978	+	A	A		Ovarian(717;0.051)|all_hematologic(82;0.21)	Missense_Mutation	286						
QRFPR	84109	broad.mit.edu	GRCh37	4	122254151	122254151	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01	TCGA-06-0155-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394427.2:c.622C>T	p.Pro208Ser	p.P208S	ENST00000394427	NM_198179.2	208	Cct/Tct	0			1			A	P/S	uc010inj.1	protein_coding	YES	CCDS3719.1			622/1296										0	c.(622-624)CCT>TCT			Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF65,Superfamily_domains:SSF81321	G protein-coupled receptor 103				ENSP00000377948		6-Apr									COSM2149989	6-Apr	.		ENST00000394427	Transcript				plasma membrane	neuropeptide Y receptor activity	ENSG00000186867	g.chr4:122254151G>A	15565			MODERATE		-0.21	neutral	getma.org/?cm=msa&ty=f&p=QRFPR_HUMAN&rb=62&re=332&var=P208S	getma.org/pdb.php?prot=QRFPR_HUMAN&from=62&to=332&var=P208S	getma.org/?cm=var&var=hg19,4,122254151,G,A&fts=all	P208S	--	--	1																																		QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_Missense_Mutation_p.P208S	1	1		benign(0.042)	p.P208S	NM_198179	NP_937822		tolerated(0.4)	1	QRFPR_HUMAN	QRFPR	HGNC	Q96P65	QRFPR_HUMAN					4	1001	-			UPI0000047B23	208			Extracellular (Potential).		SNV	QRFPR,missense_variant,p.Pro208Ser,ENST00000394427,NM_198179.2;QRFPR,missense_variant,p.Pro208Ser,ENST00000334383,;Y_RNA,upstream_gene_variant,,ENST00000384419,;QRFPR,3_prime_UTR_variant,,ENST00000507331,;	uc010inj.1	c.622C>T	1034/1708	1	1			c.622C>T						4	SNP	c.(622-624)CCT>TCT	55	55				0	Broad	G protein-coupled receptor 103			122254151		0.388	ENSG00000186867	12668	g.chr4:122254151G>A		plasma membrane	neuropeptide Y receptor activity							197.392469	KEEP	34	35	-1	63	54	34	35	-1	199.411255	63	54	0.381818	1	0	0	0	0	1	0	0	0	--	--		0	A			QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_Missense_Mutation_p.P208S	27	GBM-06-0155-TP	p.P208S	G	TGGTGCACAGGGCTGGTCCAC	NM_198179	NP_937822	122254151	Q96P65	QRFPR_HUMAN	0			4	1001	-	A	A			Missense_Mutation	208			Extracellular (Potential).			
QRICH1	54870	broad.mit.edu	GRCh37	3	49094721	49094721	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0141-01	TCGA-06-0141-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395443.2:c.912T>C	p.Pro304=	p.P304=	ENST00000395443	NM_198880.1	304	ccT/ccC	0			1			G	P	uc010hkq.2	protein_coding		CCDS2787.1			912/2331									ovary(1)	1	c.(910-912)CCT>CCC			hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF25	glutamine-rich 1				ENSP00000350094		11-Apr									COSM3408737	11-Apr	.		ENST00000357496	Transcript						ENSG00000198218	g.chr3:49094721A>G	24713			LOW								--	--	1																																		QRICH1_uc003cvu.2_Silent_p.P304P|QRICH1_uc003cvv.2_Silent_p.P304P	1				p.P304P	NM_198880	NP_942581			1	QRIC1_HUMAN	QRICH1	HGNC	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Q9NXG9_HUMAN,Q9H9Z1_HUMAN,C9JIA8_HUMAN,C9JAL2_HUMAN,A1L3Z9_HUMAN		4	1208	-			UPI0000209C85	304			Gln-rich.		SNV	QRICH1,synonymous_variant,p.=,ENST00000395443,NM_198880.1;QRICH1,synonymous_variant,p.=,ENST00000357496,NM_017730.2;QRICH1,synonymous_variant,p.=,ENST00000424300,;QRICH1,intron_variant,,ENST00000479449,;	uc010hkq.2	c.912T>C	1144/3083	4	4			c.912T>C						3	SNP	c.(910-912)CCT>CCC	32	32			ovary(1)	1	Broad	glutamine-rich 1			49094721		0.557	ENSG00000198218	12669	g.chr3:49094721A>G										-18.132588	KEEP	2	1	-1	46	58	2	1	-1	6.371782	46	58	0.029703	1	0	0	0	0	0	0	1	0	--	--		0	G			QRICH1_uc003cvu.2_Silent_p.P304P|QRICH1_uc003cvv.2_Silent_p.P304P	21	GBM-06-0141-TP	p.P304P	A	TTTCTCCTGTAGGGCTAGTAA	NM_198880	NP_942581	49094721	Q2TAL8	QRIC1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	4	1208	-	G	G			Silent	304			Gln-rich.			
QRICH2	0	broad.mit.edu	GRCh37	17	74276772	74276772	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-27-2518-01	TCGA-27-2518-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262765.5:c.3926delA	p.Lys1309ArgfsTer13	p.K1309Rfs*13	ENST00000262765	NM_032134.1	1309	aAg/ag	0			1			-	K/X	uc002jrd.1	protein_coding	YES	CCDS32741.1			3926/4992									ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5	c.(3925-3927)AAGfs			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23343,hmmpanther:PTHR23343:SF78	glutamine rich 2				ENSP00000262765		19-Oct										19-Oct	.		ENST00000262765	Transcript					protein binding	ENSG00000129646	g.chr17:74276772delT	25326			HIGH								--	--	1																																		QRICH2_uc010wsz.1_Frame_Shift_Del_p.K1235fs|QRICH2_uc010dgw.1_Frame_Shift_Del_p.K153fs		1			p.K1309fs	NM_032134	NP_115510				QRIC2_HUMAN	QRICH2	HGNC	Q9H0J4	QRIC2_HUMAN					10	4106	-			UPI000006FECD	1309			Potential.		deletion	QRICH2,frameshift_variant,p.Lys1309ArgfsTer13,ENST00000262765,NM_032134.1;QRICH2,frameshift_variant,p.Lys317ArgfsTer13,ENST00000447564,;QRICH2,upstream_gene_variant,,ENST00000532549,;QRICH2,3_prime_UTR_variant,,ENST00000524722,;	uc002jrd.1	c.3926delA	4106/5359	5	5			c.3926delA						17	DEL	c.(3925-3927)AAGfs	45	45			ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5	Broad	glutamine rich 2			74276772		0.587	ENSG00000129646	12670	g.chr17:74276772delT			protein binding																				0.04	1	1	0	1	0	0	0	0	0	--	--		0	-			QRICH2_uc010wsz.1_Frame_Shift_Del_p.K1235fs|QRICH2_uc010dgw.1_Frame_Shift_Del_p.K153fs	198	GBM-27-2518-TP	p.K1309fs	T	CCTGTTGGCCTTTTCCTTTTC	NM_032134	NP_115510	74276772	Q9H0J4	QRIC2_HUMAN	0			10	4106	-	-	-			Frame_Shift_Del	1309			Potential.			
QSER1	0	broad.mit.edu	GRCh37	11	32955067	32955067	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-12-0821-01	TCGA-12-0821-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399302.2:c.1876C>G	p.Leu626Val	p.L626V	ENST00000399302	NM_001076786.1	626	Ctg/Gtg	0			1			G	L/V	uc001mty.2	protein_coding	YES	CCDS41631.1			1876/5208									ovary(3)|central_nervous_system(2)|skin(1)	6	c.(1876-1878)CTG>GTG			hmmpanther:PTHR14709,hmmpanther:PTHR14709:SF2	glutamine and serine rich 1				ENSP00000382241		13-Apr									COSM3397640	13-Apr	.		ENST00000399302	Transcript						ENSG00000060749	g.chr11:32955067C>G	26154			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=QSER1_HUMAN&rb=601&re=800&var=L626V	NA	getma.org/?cm=var&var=hg19,11,32955067,C,G&fts=all	L626V	--	--	1																																		QSER1_uc001mtz.1_Missense_Mutation_p.L387V|QSER1_uc001mua.2_Missense_Mutation_p.L131V	1	1		benign(0.052)	p.L626V	NM_001076786	NP_001070254		tolerated(0.07)	1	QSER1_HUMAN	QSER1	HGNC	Q2KHR3	QSER1_HUMAN			E9PQD3_HUMAN,B3KWV1_HUMAN		4	2143	+	Breast(20;0.158)		UPI0000E467AF	626					SNV	QSER1,missense_variant,p.Leu626Val,ENST00000399302,NM_001076786.1;QSER1,missense_variant,p.Leu387Val,ENST00000527788,;QSER1,upstream_gene_variant,,ENST00000524678,;QSER1,downstream_gene_variant,,ENST00000528155,;QSER1,downstream_gene_variant,,ENST00000527250,;	uc001mty.2	c.1876C>G	2211/9335	3	3			c.1876C>G						11	SNP	c.(1876-1878)CTG>GTG	59	59			ovary(3)|central_nervous_system(2)|skin(1)	6	Broad	glutamine and serine rich 1			32955067		0.378	ENSG00000060749	12672	g.chr11:32955067C>G										371.246747	KEEP	79	47	-1	88	39	79	47	-1	371.359919	88	39	0.47619	1	0	0	0	0	1	0	0	0	--	--		0	G			QSER1_uc001mtz.1_Missense_Mutation_p.L387V|QSER1_uc001mua.2_Missense_Mutation_p.L131V	123	GBM-12-0821-TP	p.L626V	C	TGGGGTTGCTCTGCAAGCATC	NM_001076786	NP_001070254	32955067	Q2KHR3	QSER1_HUMAN	0			4	2143	+	G	G	Breast(20;0.158)		Missense_Mutation	626						
QSER1	0	broad.mit.edu	GRCh37	11	32954286	32954286	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0813-01	TCGA-14-0813-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399302.2:c.1095G>A	p.Lys365=	p.K365=	ENST00000399302	NM_001076786.1	365	aaG/aaA	0			1			A	K	uc001mty.2	protein_coding	YES	CCDS41631.1			1095/5208									ovary(3)|central_nervous_system(2)|skin(1)	6	c.(1093-1095)AAG>AAA			hmmpanther:PTHR14709,hmmpanther:PTHR14709:SF2	glutamine and serine rich 1				ENSP00000382241		13-Apr	8.28E-06					1.50E-05			rs758611478,COSM3397639	13-Apr	.		ENST00000399302	Transcript						ENSG00000060749	g.chr11:32954286G>A	26154			LOW								--	--	1																																		QSER1_uc001mtz.1_Intron|QSER1_uc001mua.2_5'Flank	0,1	1			p.K365K	NM_001076786	NP_001070254			0,1	QSER1_HUMAN	QSER1	HGNC	Q2KHR3	QSER1_HUMAN			E9PQD3_HUMAN,B3KWV1_HUMAN		4	1362	+	Breast(20;0.158)		UPI0000E467AF	365			Ser-rich.		SNV	QSER1,synonymous_variant,p.=,ENST00000399302,NM_001076786.1;QSER1,intron_variant,,ENST00000527788,;QSER1,upstream_gene_variant,,ENST00000524678,;QSER1,downstream_gene_variant,,ENST00000528155,;QSER1,downstream_gene_variant,,ENST00000527250,;	uc001mty.2	c.1095G>A	1430/9335	1	1			c.1095G>A						11	SNP	c.(1093-1095)AAG>AAA	56	56			ovary(3)|central_nervous_system(2)|skin(1)	6	Broad	glutamine and serine rich 1			32954286		0.383	ENSG00000060749	12672	g.chr11:32954286G>A										-6.341999	KEEP	7	10	-1	138	117	7	10	-1	41.945399	138	117	0.068	1	0	0	0	0	0	0	1	0	--	--		0	A			QSER1_uc001mtz.1_Intron|QSER1_uc001mua.2_5'Flank	138	GBM-14-0813-TP	p.K365K	G	GGTCCAGCAAGGTTGAGAAAT	NM_001076786	NP_001070254	32954286	Q2KHR3	QSER1_HUMAN	0			4	1362	+	A	A	Breast(20;0.158)		Silent	365			Ser-rich.			
QSOX2	169714		GRCh37	9	139108556	139108556	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000358701.5:c.1099C>T	p.Arg367Trp	p.R367W	ENST00000358701	NM_181701.3	367	Cgg/Tgg	0																																																																																																																																																																																																																																												
QTRT1	0	broad.mit.edu	GRCh37	19	10823297	10823297	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000250237.5:c.854G>A	p.Arg285Gln	p.R285Q	ENST00000250237	NM_031209.2	285	cGg/cAg	0			1			A	R/Q	uc002mpr.2	protein_coding	YES	CCDS12248.1			854/1212									skin(1)	1	c.(853-855)CGG>CAG			HAMAP:MF_00168,hmmpanther:PTHR11962,hmmpanther:PTHR11962:SF6,TIGRFAM_domain:TIGR00449,Pfam_domain:PF01702,TIGRFAM_domain:TIGR00430,Gene3D:3.20.20.105,Superfamily_domains:SSF51713	queuine tRNA-ribosyltransferase 1				ENSP00000250237		10-Jul	3.29E-05		8.65E-05			3.01E-05		6.06E-05	rs548731555,COSM3403735	10-Jul	.		ENST00000250237	Transcript			queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity	ENSG00000213339	g.chr19:10823297G>A	23797			MODERATE		3.425	medium	getma.org/?cm=msa&ty=f&p=TGT_HUMAN&rb=141&re=378&var=R285Q	getma.org/pdb.php?prot=TGT_HUMAN&from=141&to=378&var=R285Q	getma.org/?cm=var&var=hg19,19,10823297,G,A&fts=all	R285Q	--	--	1																																		DNM2_uc010dxk.2_5'Flank	0,1	1		probably_damaging(0.984)	p.R285Q	NM_031209	NP_112486		deleterious(0)	0,1	TGT_HUMAN	QTRT1	HGNC	Q9BXR0	TGT_HUMAN	Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)				7	879	+			UPI000003B010	285					SNV	QTRT1,missense_variant,p.Arg285Gln,ENST00000250237,NM_031209.2;QTRT1,missense_variant,p.Arg20Gln,ENST00000592376,;QTRT1,downstream_gene_variant,,ENST00000591643,;QTRT1,downstream_gene_variant,,ENST00000585885,;QTRT1,3_prime_UTR_variant,,ENST00000421333,;QTRT1,non_coding_transcript_exon_variant,,ENST00000587861,;QTRT1,non_coding_transcript_exon_variant,,ENST00000589488,;QTRT1,downstream_gene_variant,,ENST00000587599,;QTRT1,downstream_gene_variant,,ENST00000590705,;QTRT1,upstream_gene_variant,,ENST00000587500,;QTRT1,upstream_gene_variant,,ENST00000592531,;	uc002mpr.2	c.854G>A	864/1317	2	2			c.854G>A						19	SNP	c.(853-855)CGG>CAG	44	44			skin(1)	1	Broad	queuine tRNA-ribosyltransferase 1			10823297		0.632	ENSG00000213339	12675	g.chr19:10823297G>A	queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity							-65.225529	KEEP	7	3	-1	193	163	7	3	-1	17.331337	193	163	0.026946	1	0	0	0	0	1	0	0	0	--	--		0	A			DNM2_uc010dxk.2_5'Flank	139	GBM-14-0817-TP	p.R285Q	G	TTCCCCACACGGACAGCGGTG	NM_031209	NP_112486	10823297	Q9BXR0	TGT_HUMAN	0	Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)		7	879	+	A	A			Missense_Mutation	285						
R3HDM2	22864	broad.mit.edu	GRCh37	12	57648757	57648757	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-02-2483-01	TCGA-02-2483-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000347140.3:c.2730T>G	p.Gly910=	p.G910=	ENST00000347140		910	ggT/ggG	0			1			C	G	uc009zpm.1	protein_coding	YES	CCDS8937.2			2730/2931									ovary(2)	2	c.(2728-2730)GGT>GGG			Low_complexity_(Seg):seg,hmmpanther:PTHR15672:SF13,hmmpanther:PTHR15672	R3H domain containing 2				ENSP00000317903		24/24	0.000354				0.000155	0.000473			rs774698063,COSM3747928,COSM3747927,COSM3747929	24/24	common_variant		ENST00000347140	Transcript				nucleus	nucleic acid binding	ENSG00000179912	g.chr12:57648757A>C	29167			LOW								--	--	1																																		R3HDM2_uc010srn.1_Intron|R3HDM2_uc001snu.2_Silent_p.G605G|R3HDM2_uc001snr.2_Silent_p.G637G|R3HDM2_uc001sns.2_Silent_p.G910G|R3HDM2_uc001snt.2_Silent_p.G924G|R3HDM2_uc009zpn.1_Intron	0,1,1,1	1			p.G910G	NM_014925	NP_055740			0,1,1,1	R3HD2_HUMAN	R3HDM2	HGNC	Q9Y2K5	R3HD2_HUMAN			C9J7N6_HUMAN		22	2765	-			UPI00005A60D3	910			Poly-Gly.		SNV	R3HDM2,synonymous_variant,p.=,ENST00000402412,;R3HDM2,synonymous_variant,p.=,ENST00000347140,;R3HDM2,synonymous_variant,p.=,ENST00000358907,NM_014925.3;R3HDM2,synonymous_variant,p.=,ENST00000403821,;R3HDM2,synonymous_variant,p.=,ENST00000429355,;R3HDM2,synonymous_variant,p.=,ENST00000441731,;R3HDM2,intron_variant,,ENST00000413953,;STAC3,upstream_gene_variant,,ENST00000332782,NM_145064.1;STAC3,upstream_gene_variant,,ENST00000554578,NM_001286256.1;STAC3,upstream_gene_variant,,ENST00000546246,NM_001286257.1;R3HDM2,downstream_gene_variant,,ENST00000548161,;STAC3,upstream_gene_variant,,ENST00000553489,;R3HDM2,downstream_gene_variant,,ENST00000546843,;R3HDM2,non_coding_transcript_exon_variant,,ENST00000393811,;RP11-123K3.4,intron_variant,,ENST00000548184,;STAC3,upstream_gene_variant,,ENST00000557176,;STAC3,upstream_gene_variant,,ENST00000553294,;	uc009zpm.1	c.2730T>G	3121/4331	3	3			c.2730T>G						12	SNP	c.(2728-2730)GGT>GGG	13	13			ovary(2)	2	Broad	R3H domain containing 2			57648757		0.632	ENSG00000179912	12678	g.chr12:57648757A>C		nucleus	nucleic acid binding							-4.32838	KEEP	4	5	-1	35	36	4	5	-1	7.009096	35	36	0.090909	1	0	0	0	0	0	0	1	0	--	--		0	C			R3HDM2_uc010srn.1_Intron|R3HDM2_uc001snu.2_Silent_p.G605G|R3HDM2_uc001snr.2_Silent_p.G637G|R3HDM2_uc001sns.2_Silent_p.G910G|R3HDM2_uc001snt.2_Silent_p.G924G|R3HDM2_uc009zpn.1_Intron	6	GBM-02-2483-TP	p.G910G	A	TGTCCCCCCCACCCCCTCCAG	NM_014925	NP_055740	57648757	Q9Y2K5	R3HD2_HUMAN	0			22	2765	-	C	C			Silent	910			Poly-Gly.			
R3HDM2	22864	broad.mit.edu	GRCh37	12	57674205	57674207	+	inframe_deletion	In_Frame_Del	DEL	TGC	TGC	-			TCGA-06-0158-01	TCGA-06-0158-01	TGC	TGC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000347140.3:c.1236_1238del	p.Gln413del	p.Q413del	ENST00000347140		412	caGCAa/caa	0			1			-	QQ/Q	uc009zpm.1	protein_coding	YES	CCDS8937.2			1236-1238/2931									ovary(2)	2	c.(1234-1239)CAGCAA>CAA			Low_complexity_(Seg):seg,hmmpanther:PTHR15672:SF13,hmmpanther:PTHR15672	R3H domain containing 2				ENSP00000317903		14/24									rs763385062,COSM1724822,COSM1724821	14/24	.		ENST00000347140	Transcript				nucleus	nucleic acid binding	ENSG00000179912	g.chr12:57674205_57674207delTGC	29167			MODERATE								--	--	1																																		R3HDM2_uc010srn.1_RNA|R3HDM2_uc001snu.2_In_Frame_Del_p.73_74QQ>Q|R3HDM2_uc001snr.2_In_Frame_Del_p.139_140QQ>Q|R3HDM2_uc001sns.2_In_Frame_Del_p.412_413QQ>Q|R3HDM2_uc001snt.2_In_Frame_Del_p.426_427QQ>Q|R3HDM2_uc009zpn.1_In_Frame_Del_p.35_36QQ>Q	0,1,1	1			p.412_413QQ>Q	NM_014925	NP_055740			0,1,1	R3HD2_HUMAN	R3HDM2	HGNC	Q9Y2K5	R3HD2_HUMAN			C9J7N6_HUMAN		12	1271_1273	-			UPI00005A60D3	412_413			Gln-rich.		deletion	R3HDM2,inframe_deletion,p.Gln427del,ENST00000402412,;R3HDM2,inframe_deletion,p.Gln413del,ENST00000347140,;R3HDM2,inframe_deletion,p.Gln413del,ENST00000358907,NM_014925.3;R3HDM2,inframe_deletion,p.Gln413del,ENST00000403821,;R3HDM2,inframe_deletion,p.Gln178del,ENST00000429355,;R3HDM2,inframe_deletion,p.Gln74del,ENST00000441731,;R3HDM2,inframe_deletion,p.Gln140del,ENST00000413953,;R3HDM2,downstream_gene_variant,,ENST00000547262,;R3HDM2,non_coding_transcript_exon_variant,,ENST00000466401,;RP11-123K3.4,3_prime_UTR_variant,,ENST00000548184,;R3HDM2,non_coding_transcript_exon_variant,,ENST00000393811,;R3HDM2,downstream_gene_variant,,ENST00000547019,;	uc009zpm.1	c.1236_1238delGCA	1627-1629/4331	5	5			c.1236_1238delGCA						12	DEL	c.(1234-1239)CAGCAA>CAA	54	54			ovary(2)	2	Broad	R3H domain containing 2			57674207		0.488	ENSG00000179912	12678	g.chr12:57674205_57674207delTGC		nucleus	nucleic acid binding																				0.05	1	1	0	1	0	0	0	0	0	--	--		0	-			R3HDM2_uc010srn.1_RNA|R3HDM2_uc001snu.2_In_Frame_Del_p.73_74QQ>Q|R3HDM2_uc001snr.2_In_Frame_Del_p.139_140QQ>Q|R3HDM2_uc001sns.2_In_Frame_Del_p.412_413QQ>Q|R3HDM2_uc001snt.2_In_Frame_Del_p.426_427QQ>Q|R3HDM2_uc009zpn.1_In_Frame_Del_p.35_36QQ>Q	29	GBM-06-0158-TP	p.412_413QQ>Q	TGC	AGCAGGAAGTtgctgctgctgct	NM_014925	NP_055740	57674205	Q9Y2K5	R3HD2_HUMAN	0			12	1271_1273	-	-	-			In_Frame_Del	412_413			Gln-rich.			
R3HDM2	0	broad.mit.edu	GRCh37	12	57677642	57677642	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-6391-01	TCGA-06-6391-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000347140.3:c.1094G>C	p.Ser365Thr	p.S365T	ENST00000347140		365	aGt/aCt	0			1			G	S/T	uc009zpm.1	protein_coding	YES	CCDS8937.2			1094/2931									ovary(2)	2	c.(1093-1095)AGT>ACT			hmmpanther:PTHR15672:SF13,hmmpanther:PTHR15672	R3H domain containing 2				ENSP00000317903		13/24										13/24	.		ENST00000347140	Transcript				nucleus	nucleic acid binding	ENSG00000179912	g.chr12:57677642C>G	29167			MODERATE		0.245	neutral	getma.org/?cm=msa&ty=f&p=R3HD2_HUMAN&rb=230&re=429&var=S365T	NA	getma.org/?cm=var&var=hg19,12,57677642,C,G&fts=all	S365T	--	--	1																																		R3HDM2_uc010srn.1_RNA|R3HDM2_uc001snu.2_Missense_Mutation_p.S26T|R3HDM2_uc001snr.2_Missense_Mutation_p.S92T|R3HDM2_uc001sns.2_Missense_Mutation_p.S365T|R3HDM2_uc001snt.2_Missense_Mutation_p.S379T		1		benign(0.002)	p.S365T	NM_014925	NP_055740		tolerated(0.12)		R3HD2_HUMAN	R3HDM2	HGNC	Q9Y2K5	R3HD2_HUMAN			C9J7N6_HUMAN		11	1129	-			UPI00005A60D3	365			Ser-rich.		SNV	R3HDM2,missense_variant,p.Ser379Thr,ENST00000402412,;R3HDM2,missense_variant,p.Ser365Thr,ENST00000347140,;R3HDM2,missense_variant,p.Ser365Thr,ENST00000358907,NM_014925.3;R3HDM2,missense_variant,p.Ser365Thr,ENST00000403821,;R3HDM2,missense_variant,p.Ser130Thr,ENST00000429355,;R3HDM2,missense_variant,p.Ser26Thr,ENST00000441731,;R3HDM2,missense_variant,p.Ser92Thr,ENST00000413953,;R3HDM2,missense_variant,p.Ser235Thr,ENST00000547262,;R3HDM2,upstream_gene_variant,,ENST00000466401,;RP11-123K3.4,3_prime_UTR_variant,,ENST00000548184,;R3HDM2,non_coding_transcript_exon_variant,,ENST00000393811,;R3HDM2,non_coding_transcript_exon_variant,,ENST00000547019,;	uc009zpm.1	c.1094G>C	1485/4331	3	3			c.1094G>C						12	SNP	c.(1093-1095)AGT>ACT	57	57			ovary(2)	2	Broad	R3H domain containing 2			57677642		0.532	ENSG00000179912	12678	g.chr12:57677642C>G		nucleus	nucleic acid binding							-8.942307	KEEP	28	16	-1	294	312	28	16	-1	96.152373	294	312	0.066667	1	0	0	0	0	1	0	0	0	--	--		0	G			R3HDM2_uc010srn.1_RNA|R3HDM2_uc001snu.2_Missense_Mutation_p.S26T|R3HDM2_uc001snr.2_Missense_Mutation_p.S92T|R3HDM2_uc001sns.2_Missense_Mutation_p.S365T|R3HDM2_uc001snt.2_Missense_Mutation_p.S379T	107	GBM-06-6391-TP	p.S365T	C	GCCGCCTTTACTGCTGCCGAT	NM_014925	NP_055740	57677642	Q9Y2K5	R3HD2_HUMAN	0			11	1129	-	G	G			Missense_Mutation	365			Ser-rich.			
R3HDM2	22864		GRCh37	12	57674205	57674207	+	inframe_deletion	In_Frame_Del	DEL	TGC	TGC	-			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000347140.3:c.1236_1238del	p.Gln413del	p.Q413del	ENST00000347140		412	caGCAa/caa	0																																																																																																																																																																																																																																												
R3HDML	140902	broad.mit.edu	GRCh37	20	42973947	42973947	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5856-01	TCGA-06-5856-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217043.2:c.558C>T	p.Thr186=	p.T186=	ENST00000217043	NM_178491.3	186	acC/acT	0			1			T	T	uc002xls.1	protein_coding	YES	CCDS13329.1			558/762										0	c.(556-558)ACC>ACT			Gene3D:3.40.33.10,Pfam_domain:PF00188,hmmpanther:PTHR10334,hmmpanther:PTHR10334:SF62,SMART_domains:SM00198,Superfamily_domains:SSF55797	R3H domain containing-like precursor				ENSP00000217043		5-Apr									COSM3405106	5-Apr	.		ENST00000217043	Transcript				extracellular region	peptidase inhibitor activity	ENSG00000101074	g.chr20:42973947C>T	16249			LOW								--	--	1																																			1	1			p.T186T	NM_178491	NP_848586			1	CRSPL_HUMAN	R3HDML	HGNC	Q9H3Y0	CRSPL_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)				4	730	+		Myeloproliferative disorder(115;0.028)	UPI00000422F8	186					SNV	R3HDML,synonymous_variant,p.=,ENST00000217043,NM_178491.3;RP5-881L22.5,downstream_gene_variant,,ENST00000438702,;Y_RNA,downstream_gene_variant,,ENST00000364493,;	uc002xls.1	c.558C>T	730/1377	1	1			c.558C>T						20	SNP	c.(556-558)ACC>ACT	8	8				0	Broad	R3H domain containing-like precursor			42973947		0.582	ENSG00000101074	12679	g.chr20:42973947C>T		extracellular region	peptidase inhibitor activity							-11.676461	KEEP	5	13	-1	102	154	5	13	-1	34.572759	102	154	0.064103	1	0	0	0	0	0	0	1	0	--	--		0	T				101	GBM-06-5856-TP	p.T186T	C	CCATCCACACCTGTAGTAGCA	NM_178491	NP_848586	42973947	Q9H3Y0	CRSPL_HUMAN	0	COAD - Colon adenocarcinoma(18;0.00189)		4	730	+	T	T		Myeloproliferative disorder(115;0.028)	Silent	186						
R3HDML	140902		GRCh37	20	42965819	42965819	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000217043.2:c.22G>A	p.Val8Met	p.V8M	ENST00000217043	NM_178491.3	8	Gtg/Atg	0																																																																																																																																																																																																																																												
RAB11B	0	broad.mit.edu	GRCh37	19	8468383	8468383	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-0861-01	TCGA-16-0861-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328024.6:c.598G>A	p.Val200Met	p.V200M	ENST00000328024	NM_004218.3	200	Gtg/Atg	0			1			A	V/M	uc002mju.3	protein_coding	YES	CCDS12201.1			598/657										0	c.(598-600)GTG>ATG			Gene3D:3.40.50.300,PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF335,SMART_domains:SM00176	RAB11B, member RAS oncogene family				ENSP00000333547		5-May	1.65E-05					3.01E-05			rs754522300,COSM3404810	5-May	.		ENST00000328024	Transcript			cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity	ENSG00000185236	g.chr19:8468383G>A	9761			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=RB11B_HUMAN&rb=175&re=218&var=V200M	NA	getma.org/?cm=var&var=hg19,19,8468383,G,A&fts=all	V200M	--	--	1																																			0,1	1		possibly_damaging(0.677)	p.V200M	NM_004218	NP_004209		deleterious_low_confidence(0.01)	0,1	RB11B_HUMAN	RAB11B	HGNC	Q15907	RB11B_HUMAN			M0R377_HUMAN		5	694	+			UPI000006CF2D	200					SNV	RAB11B,missense_variant,p.Val200Met,ENST00000328024,NM_004218.3;RAB11B,downstream_gene_variant,,ENST00000594216,;RAB11B,downstream_gene_variant,,ENST00000601897,;RAB11B,downstream_gene_variant,,ENST00000600719,;RAB11B,downstream_gene_variant,,ENST00000598706,;	uc002mju.3	c.598G>A	816/1751	2	2			c.598G>A						19	SNP	c.(598-600)GTG>ATG	42	42				0	Broad	RAB11B, member RAS oncogene family			8468383		0.647	ENSG00000185236	12682	g.chr19:8468383G>A	cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity							117.762698	KEEP	19	28	-1	33	56	19	28	-1	119.95646	33	56	0.357724	1	0	0	0	0	1	0	0	0	--	--		0	A				156	GBM-16-0861-TP	p.V200M	G	GGACATCAGCGTGCCGCCCAC	NM_004218	NP_004209	8468383	Q15907	RB11B_HUMAN	0			5	694	+	A	A			Missense_Mutation	200						
RAB11FIP1	80223	broad.mit.edu	GRCh37	8	37730005	37730005	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01	TCGA-06-0744-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330843.4:c.2315C>T	p.Ala772Val	p.A772V	ENST00000330843	NM_001002814.2	772	gCg/gTg	0	A:0.0002		1			A	A/V	uc003xkm.1	protein_coding	YES	CCDS34882.1			2315/3852									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(2314-2316)GCG>GTG			hmmpanther:PTHR15746,hmmpanther:PTHR15746:SF22	RAB11 family interacting protein 1 isoform 3			A:0	ENSP00000331342		6-Apr	5.77E-05	0.000288		0.000231		1.50E-05		6.06E-05	rs371085767,COSM2151606	6-Apr	.		ENST00000330843	Transcript			protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	ENSG00000156675	g.chr8:37730005G>A	30265			MODERATE		0.46	neutral	getma.org/?cm=msa&ty=f&p=RFIP1_HUMAN&rb=511&re=979&var=A772V	NA	getma.org/?cm=var&var=hg19,8,37730005,G,A&fts=all	A772V	--	--	1																																		RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.A101V|RAB11FIP1_uc003xko.1_Missense_Mutation_p.A101V|RAB11FIP1_uc003xkp.1_Intron	0,1	1		benign(0.001)	p.A772V	NM_001002814	NP_001002814		tolerated(0.5)	0,1	RFIP1_HUMAN	RAB11FIP1	HGNC	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)				4	2359	-		Lung NSC(58;0.118)|all_lung(54;0.195)	UPI0000D624B1	772					SNV	RAB11FIP1,missense_variant,p.Ala772Val,ENST00000330843,NM_001002814.2;RAB11FIP1,intron_variant,,ENST00000287263,NM_025151.4;RAB11FIP1,intron_variant,,ENST00000524118,;RAB11FIP1,intron_variant,,ENST00000522727,;RAB11FIP1,non_coding_transcript_exon_variant,,ENST00000523182,;RAB11FIP1,non_coding_transcript_exon_variant,,ENST00000522774,;	uc003xkm.1	c.2315C>T	2328/7811	2	2			c.2315C>T						8	SNP	c.(2314-2316)GCG>GTG	17	17			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	RAB11 family interacting protein 1 isoform 3			37730005		0.567	ENSG00000156675	12683	g.chr8:37730005G>A	protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding							213.851976	KEEP	48	27	-1	47	35	48	27	-1	213.919935	47	35	0.47651	1	0	0	0	0	1	0	0	0	--	--		0	A			RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.A101V|RAB11FIP1_uc003xko.1_Missense_Mutation_p.A101V|RAB11FIP1_uc003xkp.1_Intron	66	GBM-06-0744-TP	p.A772V	G	AAGAGGGGGCGCCACTTCTTC	NM_001002814	NP_001002814	37730005	Q6WKZ4	RFIP1_HUMAN	0	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	2359	-	A	A		Lung NSC(58;0.118)|all_lung(54;0.195)	Missense_Mutation	772						
RAB11FIP1	80223	broad.mit.edu	GRCh37	8	37732412	37732412	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140686896		TCGA-06-2564-01	TCGA-06-2564-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330843.4:c.1243G>A	p.Ala415Thr	p.A415T	ENST00000330843	NM_001002814.2	415	Gca/Aca	0	T:0.0005		1			T	A/T	uc003xkm.1	protein_coding	YES	CCDS34882.1			1243/3852									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(1243-1245)GCA>ACA			hmmpanther:PTHR15746,hmmpanther:PTHR15746:SF22	RAB11 family interacting protein 1 isoform 3			T:0	ENSP00000331342		6-Mar	4.94E-05	0.000193				6.00E-05			rs140686896,COSM3412999	6-Mar	.		ENST00000330843	Transcript			protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	ENSG00000156675	g.chr8:37732412C>T	30265			MODERATE		2.14	medium	getma.org/?cm=msa&ty=f&p=RFIP1_HUMAN&rb=331&re=509&var=A415T	NA	getma.org/?cm=var&var=hg19,8,37732412,C,T&fts=all	A415T	--	--	1																																		RAB11FIP1_uc010lvz.1_Missense_Mutation_p.A263T|RAB11FIP1_uc003xkn.1_Missense_Mutation_p.A415T|RAB11FIP1_uc003xkl.1_5'Flank|RAB11FIP1_uc003xko.1_5'Flank|RAB11FIP1_uc003xkp.1_Missense_Mutation_p.A263T	0,1	1		possibly_damaging(0.504)	p.A415T	NM_001002814	NP_001002814		deleterious(0.03)	0,1	RFIP1_HUMAN	RAB11FIP1	HGNC	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)				3	1287	-		Lung NSC(58;0.118)|all_lung(54;0.195)	UPI0000D624B1	415					SNV	RAB11FIP1,missense_variant,p.Ala415Thr,ENST00000330843,NM_001002814.2;RAB11FIP1,missense_variant,p.Ala415Thr,ENST00000287263,NM_025151.4;RAB11FIP1,missense_variant,p.Ala267Thr,ENST00000524118,;RAB11FIP1,missense_variant,p.Ala267Thr,ENST00000522727,;RAB11FIP1,upstream_gene_variant,,ENST00000523182,;RAB11FIP1,upstream_gene_variant,,ENST00000522774,;	uc003xkm.1	c.1243G>A	1256/7811	2	2			c.1243G>A						8	SNP	c.(1243-1245)GCA>ACA	34	34			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	RAB11 family interacting protein 1 isoform 3			37732412		0.557	ENSG00000156675	12683	g.chr8:37732412C>T	protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding							-39.045692	KEEP	2	2	-1	89	96	2	2	-1	6.504278	89	96	0.022346	1	0	0	0	0	1	0	0	0	--	--		0	T			RAB11FIP1_uc010lvz.1_Missense_Mutation_p.A263T|RAB11FIP1_uc003xkn.1_Missense_Mutation_p.A415T|RAB11FIP1_uc003xkl.1_5'Flank|RAB11FIP1_uc003xko.1_5'Flank|RAB11FIP1_uc003xkp.1_Missense_Mutation_p.A263T	87	GBM-06-2564-TP	p.A415T	C	TCTGAGTTTGCGGGGGCCATG	NM_001002814	NP_001002814	37732412	Q6WKZ4	RFIP1_HUMAN	0	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		3	1287	-	T	T		Lung NSC(58;0.118)|all_lung(54;0.195)	Missense_Mutation	415						
RAB11FIP1	0	broad.mit.edu	GRCh37	8	37730590	37730590	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-32-4208-01	TCGA-32-4208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330843.4:c.1730C>A	p.Pro577His	p.P577H	ENST00000330843	NM_001002814.2	577	cCc/cAc	0			1			T	P/H	uc003xkm.1	protein_coding	YES	CCDS34882.1			1730/3852									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(1729-1731)CCC>CAC			hmmpanther:PTHR15746,hmmpanther:PTHR15746:SF22	RAB11 family interacting protein 1 isoform 3				ENSP00000331342		6-Apr									COSM3412998	6-Apr	.		ENST00000330843	Transcript			protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	ENSG00000156675	g.chr8:37730590G>T	30265			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=RFIP1_HUMAN&rb=511&re=979&var=P577H	NA	getma.org/?cm=var&var=hg19,8,37730590,G,T&fts=all	P577H	--	--	1																																		RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_5'UTR|RAB11FIP1_uc003xko.1_5'UTR|RAB11FIP1_uc003xkp.1_Intron	1	1		possibly_damaging(0.874)	p.P577H	NM_001002814	NP_001002814		tolerated(0.27)	1	RFIP1_HUMAN	RAB11FIP1	HGNC	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)				4	1774	-		Lung NSC(58;0.118)|all_lung(54;0.195)	UPI0000D624B1	577			Ser-rich.		SNV	RAB11FIP1,missense_variant,p.Pro577His,ENST00000330843,NM_001002814.2;RAB11FIP1,intron_variant,,ENST00000287263,NM_025151.4;RAB11FIP1,intron_variant,,ENST00000524118,;RAB11FIP1,intron_variant,,ENST00000522727,;RAB11FIP1,non_coding_transcript_exon_variant,,ENST00000523182,;RAB11FIP1,non_coding_transcript_exon_variant,,ENST00000522774,;	uc003xkm.1	c.1730C>A	1743/7811	2	2			c.1730C>A						8	SNP	c.(1729-1731)CCC>CAC	34	34			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	RAB11 family interacting protein 1 isoform 3			37730590		0.557	ENSG00000156675	12683	g.chr8:37730590G>T	protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding							-43.657531	KEEP	1	2	0.333333333	104	101	1	2	0.333333333	6.550164	104	101	0.015873	1	0	0	0	0	1	0	0	0	--	--		0	T			RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_5'UTR|RAB11FIP1_uc003xko.1_5'UTR|RAB11FIP1_uc003xkp.1_Intron	243	GBM-32-4208-TP	p.P577H	G	CAATTCAGAGGGGACAGATGC	NM_001002814	NP_001002814	37730590	Q6WKZ4	RFIP1_HUMAN	0	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	1774	-	T	T		Lung NSC(58;0.118)|all_lung(54;0.195)	Missense_Mutation	577			Ser-rich.			
RAB11FIP2	0	broad.mit.edu	GRCh37	10	119798511	119798511	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-27-2519-01	TCGA-27-2519-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355624.3:c.1237A>G	p.Arg413Gly	p.R413G	ENST00000355624	NM_014904.2	413	Agg/Ggg	0			1			C	R/G	uc001ldj.1	protein_coding	YES	CCDS7602.1			1237/1539										0	c.(1237-1239)AGG>GGG			hmmpanther:PTHR15746,hmmpanther:PTHR15746:SF20	RAB11 family interacting protein 2				ENSP00000347839		5-Mar									COSM3396940,COSM3396941	5-Mar	.		ENST00000355624	Transcript			protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	ENSG00000107560	g.chr10:119798511T>C	29152			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=RFIP2_HUMAN&rb=303&re=451&var=R413G	NA	getma.org/?cm=var&var=hg19,10,119798511,T,C&fts=all	R413G	--	--	1																																		RAB11FIP2_uc009xyz.1_Missense_Mutation_p.R413G	1,1	1		benign(0.074)	p.R413G	NM_014904	NP_055719		deleterious(0.01)	1,1	RFIP2_HUMAN	RAB11FIP2	HGNC	Q7L804	RFIP2_HUMAN		all cancers(201;0.0238)			3	1677	-		Colorectal(252;0.235)	UPI0000073B4B	413					SNV	RAB11FIP2,missense_variant,p.Arg413Gly,ENST00000355624,NM_014904.2;RAB11FIP2,missense_variant,p.Arg413Gly,ENST00000369199,;RP11-354M20.3,intron_variant,,ENST00000451610,;RP11-354M20.3,upstream_gene_variant,,ENST00000417968,;RAB11FIP2,non_coding_transcript_exon_variant,,ENST00000483413,;	uc001ldj.1	c.1237A>G	1677/6061	3	3			c.1237A>G						10	SNP	c.(1237-1239)AGG>GGG	1	1				0	Broad	RAB11 family interacting protein 2			119798511		0.343	ENSG00000107560	12684	g.chr10:119798511T>C	protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity							-28.603817	KEEP	3	0	-1	78	72	3	0	-1	6.947294	78	72	0.021583	1	0	0	0	0	1	0	0	0	--	--		0	C			RAB11FIP2_uc009xyz.1_Missense_Mutation_p.R413G	199	GBM-27-2519-TP	p.R413G	T	TTTGAAGCCCTGAATTTTGCT	NM_014904	NP_055719	119798511	Q7L804	RFIP2_HUMAN	0		all cancers(201;0.0238)	3	1677	-	C	C		Colorectal(252;0.235)	Missense_Mutation	413						
RAB11FIP4	84440		GRCh37	17	29850999	29850999	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000325874.8:c.1118C>A	p.Thr373Lys	p.T373K	ENST00000325874	NM_032932.3	373	aCa/aAa	0																																																																																																																																																																																																																																												
RAB11FIP4	84440		GRCh37	17	29850996	29850997	+	frameshift_variant	Frame_Shift_Del	DEL	AC	AC	-			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000325874.8:c.1120_1121del	p.Gln374AlafsTer7	p.Q374Afs*7	ENST00000325874	NM_032932.3	372	aAC/a	0																																																																																																																																																																																																																																												
RAB11FIP5	26056	broad.mit.edu	GRCh37	2	73315522	73315544	+	frameshift_variant	Frame_Shift_Del	DEL	AGCACTCAGCTCCTCCTGTCCAA	AGCACTCAGCTCCTCCTGTCCAA	-	rs138135562		TCGA-06-0185-01	TCGA-06-0185-01	AGCACTCAGCTCCTCCTGTCCAA	AGCACTCAGCTCCTCCTGTCCAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258098.6:c.1202_1224del	p.Leu401ProfsTer3	p.L401Pfs*3	ENST00000258098	NM_015470.2	401	cTTGGACAGGAGGAGCTGAGTGCT/c	0			1			-	LGQEELSA/X	uc002siu.3	protein_coding	YES	CCDS1923.1			1202-1224/1962										0	c.(1201-1224)CTTGGACAGGAGGAGCTGAGTGCTfs			hmmpanther:PTHR15746,hmmpanther:PTHR15746:SF14	RAB11 family interacting protein 5 (class I)				ENSP00000258098		5-Mar										5-Mar	.		ENST00000258098	Transcript			protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	ENSG00000135631	g.chr2:73315522_73315544delAGCACTCAGCTCCTCCTGTCCAA	24845			HIGH								--	--	1																																		RAB11FIP5_uc002sit.3_Frame_Shift_Del_p.L323fs		1			p.L401fs	NM_015470	NP_056285				RFIP5_HUMAN	RAB11FIP5	HGNC	Q9BXF6	RFIP5_HUMAN			Q53T28_HUMAN,Q2Z1P3_HUMAN		3	1443_1465	-			UPI000007079C	401_408					deletion	RAB11FIP5,frameshift_variant,p.Leu401ProfsTer3,ENST00000258098,NM_015470.2;RAB11FIP5,non_coding_transcript_exon_variant,,ENST00000493523,;RAB11FIP5,upstream_gene_variant,,ENST00000482554,;RAB11FIP5,upstream_gene_variant,,ENST00000479196,;RAB11FIP5,downstream_gene_variant,,ENST00000475951,;	uc002siu.3	c.1202_1224delTTGGACAGGAGGAGCTGAGTGCT	1443-1465/4342	5	5			c.1202_1224delTTGGACAGGAGGAGCTGAGTGCT						2	DEL	c.(1201-1224)CTTGGACAGGAGGAGCTGAGTGCTfs	40	40				0	Broad	RAB11 family interacting protein 5 (class I)			73315544		0.637	ENSG00000135631	12687	g.chr2:73315522_73315544delAGCACTCAGCTCCTCCTGTCCAA	protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding																				0.37	1	1	0	1	0	0	0	0	0	--	--		0	-			RAB11FIP5_uc002sit.3_Frame_Shift_Del_p.L323fs	40	GBM-06-0185-TP	p.L401fs	AGCACTCAGCTCCTCCTGTCCAA	CTTTAGCCTGAGCACTCAGCTCCTCCTGTCCAAGCACTGCCTC	NM_015470	NP_056285	73315522	Q9BXF6	RFIP5_HUMAN	0			3	1443_1465	-	-	-			Frame_Shift_Del	401_408						
RAB11FIP5	0	broad.mit.edu	GRCh37	2	73316179	73316179	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-19-1790-01	TCGA-19-1790-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258098.6:c.696A>G	p.Lys232=	p.K232=	ENST00000258098	NM_015470.2	232	aaA/aaG	0			1			C	K	uc002siu.3	protein_coding	YES	CCDS1923.1			696/1962										0	c.(694-696)AAA>AAG			hmmpanther:PTHR15746,hmmpanther:PTHR15746:SF14	RAB11 family interacting protein 5 (class I)				ENSP00000258098		5-Feb									COSM2156070	5-Feb	.		ENST00000258098	Transcript			protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	ENSG00000135631	g.chr2:73316179T>C	24845			LOW								--	--	1																																		RAB11FIP5_uc002sit.3_Silent_p.K154K	1	1			p.K232K	NM_015470	NP_056285			1	RFIP5_HUMAN	RAB11FIP5	HGNC	Q9BXF6	RFIP5_HUMAN			Q53T28_HUMAN,Q2Z1P3_HUMAN		2	937	-			UPI000007079C	232					SNV	RAB11FIP5,synonymous_variant,p.=,ENST00000258098,NM_015470.2;RAB11FIP5,non_coding_transcript_exon_variant,,ENST00000493523,;RAB11FIP5,non_coding_transcript_exon_variant,,ENST00000475951,;RAB11FIP5,upstream_gene_variant,,ENST00000482554,;RAB11FIP5,upstream_gene_variant,,ENST00000479196,;	uc002siu.3	c.696A>G	937/4342	3	3			c.696A>G						2	SNP	c.(694-696)AAA>AAG	58	58				0	Broad	RAB11 family interacting protein 5 (class I)			73316179		0.602	ENSG00000135631	12687	g.chr2:73316179T>C	protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding							107.592622	KEEP	18	20	-1	52	57	18	20	-1	114.279826	52	57	0.261538	1	0	0	0	0	0	0	1	0	--	--		0	C			RAB11FIP5_uc002sit.3_Silent_p.K154K	160	GBM-19-1790-TP	p.K232K	T	GGAAGAAGCCTTTGGCTTTGC	NM_015470	NP_056285	73316179	Q9BXF6	RFIP5_HUMAN	0			2	937	-	C	C			Silent	232						
RAB11FIP5	0	broad.mit.edu	GRCh37	2	73315641	73315641	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-19-5958-01	TCGA-19-5958-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258098.6:c.1105C>G	p.Gln369Glu	p.Q369E	ENST00000258098	NM_015470.2	369	Caa/Gaa	0			1			C	Q/E	uc002siu.3	protein_coding	YES	CCDS1923.1			1105/1962										0	c.(1105-1107)CAA>GAA			hmmpanther:PTHR15746,hmmpanther:PTHR15746:SF14	RAB11 family interacting protein 5 (class I)				ENSP00000258098		5-Mar									COSM2156826	5-Mar	.		ENST00000258098	Transcript			protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	ENSG00000135631	g.chr2:73315641G>C	24845			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=RFIP5_HUMAN&rb=290&re=489&var=Q369E	NA	getma.org/?cm=var&var=hg19,2,73315641,G,C&fts=all	Q369E	--	--	1																																		RAB11FIP5_uc002sit.3_Missense_Mutation_p.Q291E	1	1		benign(0)	p.Q369E	NM_015470	NP_056285		tolerated(0.12)	1	RFIP5_HUMAN	RAB11FIP5	HGNC	Q9BXF6	RFIP5_HUMAN			Q53T28_HUMAN,Q2Z1P3_HUMAN		3	1346	-			UPI000007079C	369					SNV	RAB11FIP5,missense_variant,p.Gln369Glu,ENST00000258098,NM_015470.2;RAB11FIP5,non_coding_transcript_exon_variant,,ENST00000493523,;RAB11FIP5,upstream_gene_variant,,ENST00000482554,;RAB11FIP5,upstream_gene_variant,,ENST00000479196,;RAB11FIP5,downstream_gene_variant,,ENST00000475951,;	uc002siu.3	c.1105C>G	1346/4342	3	3			c.1105C>G						2	SNP	c.(1105-1107)CAA>GAA	60	60				0	Broad	RAB11 family interacting protein 5 (class I)			73315641		0.617	ENSG00000135631	12687	g.chr2:73315641G>C	protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding							66.57001	KEEP	8	16	-1	26	29	8	16	-1	69.058898	26	29	0.3	1	0	0	0	0	1	0	0	0	--	--		0	C			RAB11FIP5_uc002sit.3_Missense_Mutation_p.Q291E	176	GBM-19-5958-TP	p.Q369E	G	GAGACAGCTTGCAAGGAGCCA	NM_015470	NP_056285	73315641	Q9BXF6	RFIP5_HUMAN	0			3	1346	-	C	C			Missense_Mutation	369						
RAB19	401409	broad.mit.edu	GRCh37	7	140107592	140107592	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0876-01	TCGA-06-0876-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000537763.1:c.146C>T	p.Thr49Met	p.T49M	ENST00000537763	NM_001008749.2	49	aCg/aTg	0			1			T	T/M	uc010lni.2	protein_coding		CCDS34762.2			146/654										0	c.(145-147)ACG>ATG			PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF391,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00175,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449	RAB19, member RAS oncogene family				ENSP00000348778		3-Jan									COSM3411661,COSM3411662	3-Jan	.		ENST00000356407	Transcript			protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	ENSG00000146955	g.chr7:140107592C>T	19982			MODERATE		3.96	high	getma.org/?cm=msa&ty=f&p=RAB19_HUMAN&rb=19&re=181&var=T49M	getma.org/pdb.php?prot=RAB19_HUMAN&from=19&to=181&var=T49M	getma.org/?cm=var&var=hg19,7,140107592,C,T&fts=all	T49M	--	--	1																																		RAB19_uc011krc.1_Missense_Mutation_p.T49M	1,1			probably_damaging(0.999)	p.T49M	NM_001008749	NP_001008749		deleterious(0)	1,1	RAB19_HUMAN	RAB19	HGNC	A4D1S5	RAB19_HUMAN			C9JJQ5_HUMAN		2	344	+	Melanoma(164;0.0142)		UPI000013DA89	49			Effector region (By similarity).		SNV	RAB19,missense_variant,p.Thr49Met,ENST00000275874,;RAB19,missense_variant,p.Thr49Met,ENST00000537763,NM_001008749.2;RAB19,missense_variant,p.Thr49Met,ENST00000356407,;RAB19,missense_variant,p.Thr49Met,ENST00000495590,;SLC37A3,upstream_gene_variant,,ENST00000491505,;SLC37A3,upstream_gene_variant,,ENST00000493423,;	uc010lni.2	c.146C>T	214/822	2	2			c.146C>T						7	SNP	c.(145-147)ACG>ATG	17	17				0	Broad	RAB19, member RAS oncogene family			140107592		0.468	ENSG00000146955	12694	g.chr7:140107592C>T	protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding							-21.796875	KEEP	4	0	-1	76	47	4	0	-1	6.708259	76	47	0.033333	1	0	0	0	0	1	0	0	0	--	--		0	T			RAB19_uc011krc.1_Missense_Mutation_p.T49M	72	GBM-06-0876-TP	p.T49M	C	CAGCAGAACACGATTGGAGTG	NM_001008749	NP_001008749	140107592	A4D1S5	RAB19_HUMAN	0			2	344	+	T	T	Melanoma(164;0.0142)		Missense_Mutation	49			Effector region (By similarity).			
RAB23	0	broad.mit.edu	GRCh37	6	57055306	57055309	+	frameshift_variant	Frame_Shift_Del	DEL	TTTG	TTTG	-			TCGA-19-2629-01	TCGA-19-2629-01	TTTG	TTTG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317483.3:c.664_667delCAAA	p.Gln222GlyfsTer24	p.Q222Gfs*24	ENST00000317483	NM_016277.4	222	CAAAgg/gg	0			1			-	QR/X	uc003pds.2	protein_coding	YES	CCDS4962.1			664-667/714									skin(1)	1	c.(664-669)CAAAGGfs			PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF209,hmmpanther:PTHR24073	Ras-related protein Rab-23				ENSP00000320413		7-Jul	8.24E-06					1.50E-05			rs764844543	7-Jul	.		ENST00000317483	Transcript	1		protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	ENSG00000112210	g.chr6:57055306_57055309delTTTG	14263			HIGH								--	--	1																																		RAB23_uc003pdt.2_Frame_Shift_Del_p.Q222fs|RAB23_uc010kac.2_Frame_Shift_Del_p.Q222fs|RAB23_uc010kad.2_RNA		1			p.Q222fs	NM_183227	NP_899050				RAB23_HUMAN	RAB23	HGNC	Q9ULC3	RAB23_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)				7	870_873	-	Lung NSC(77;0.121)		UPI000013315E	222_223					deletion	RAB23,frameshift_variant,p.Gln222GlyfsTer24,ENST00000317483,NM_016277.4,NM_001278667.1;RAB23,frameshift_variant,p.Gln222GlyfsTer24,ENST00000468148,NM_183227.2;BAG2,downstream_gene_variant,,ENST00000370693,NM_004282.3;	uc003pds.2	c.664_667delCAAA	1284-1287/2986	5	5			c.664_667delCAAA						6	DEL	c.(664-669)CAAAGGfs	60	60			skin(1)	1	Broad	Ras-related protein Rab-23			57055309		0.387	ENSG00000112210	12700	g.chr6:57055306_57055309delTTTG	protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding																				0.19	1	1	0	1	0	0	0	0	0	--	--		0	-			RAB23_uc003pdt.2_Frame_Shift_Del_p.Q222fs|RAB23_uc010kac.2_Frame_Shift_Del_p.Q222fs|RAB23_uc010kad.2_RNA	166	GBM-19-2629-TP	p.Q222fs	TTTG	TTCTTGGTCCTTTGTTTGTTGGGT	NM_183227	NP_899050	57055306	Q9ULC3	RAB23_HUMAN	0	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		7	870_873	-	-	-	Lung NSC(77;0.121)		Frame_Shift_Del	222_223						
RAB28	0	broad.mit.edu	GRCh37	4	13383174	13383174	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs139395840	byFrequency	TCGA-41-2575-01	TCGA-41-2575-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330852.5:c.436C>G	p.Arg146Gly	p.R146G	ENST00000330852	NM_001017979.2	146	Cgg/Ggg	0	A:0.0009	A:0.003	1	A:0		C	R/G	uc003gmu.2	protein_coding	YES	CCDS33961.1			436/666								p.R146W(1)	ovary(1)|skin(1)	2	c.(436-438)CGG>GGG			Superfamily_domains:SSF52540,SMART_domains:SM00173,SMART_domains:SM00175,SMART_domains:SM00176,SMART_domains:SM00174,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,PROSITE_profiles:PS51419,hmmpanther:PTHR24073	RAB28, member RAS oncogene family isoform 1		A:0	A:0	ENSP00000328551	A:0	7-May	8.24E-06					1.50E-05			rs139395840,COSM3748251,COSM3748250	7-May	.		ENST00000330852	Transcript	1	A:0.0008	small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity	ENSG00000157869	g.chr4:13383174G>C	9768			MODERATE		1.375	low	getma.org/?cm=msa&ty=f&p=RAB28_HUMAN&rb=14&re=179&var=R146G	getma.org/pdb.php?prot=RAB28_HUMAN&from=14&to=179&var=R146G	getma.org/?cm=var&var=hg19,4,13383174,G,C&fts=all	R146G	--	--	1																																		RAB28_uc003gmt.2_Missense_Mutation_p.R146G|RAB28_uc011bwz.1_Missense_Mutation_p.R146G|RAB28_uc003gmv.2_RNA	0,1,1	1		benign(0.142)	p.R146G	NM_001017979	NP_001017979	A:0	deleterious(0.05)	0,1,1	RAB28_HUMAN	RAB28	HGNC	P51157	RAB28_HUMAN					5	651	-			UPI00000741FF	146					SNV	RAB28,missense_variant,p.Arg146Gly,ENST00000288723,NM_004249.3;RAB28,missense_variant,p.Arg146Gly,ENST00000338176,NM_001159601.1;RAB28,missense_variant,p.Arg146Gly,ENST00000330852,NM_001017979.2;RAB28,missense_variant,p.Arg69Gly,ENST00000511649,;RAB28,missense_variant,p.Arg16Gly,ENST00000504644,;RAB28,3_prime_UTR_variant,,ENST00000508274,;	uc003gmu.2	c.436C>G	651/1715	3	3			c.436C>G						4	SNP	c.(436-438)CGG>GGG	61	61		p.R146W(1)	ovary(1)|skin(1)	2	Broad	RAB28, member RAS oncogene family isoform 1			13383174		0.328	ENSG00000157869	12706	g.chr4:13383174G>C	small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity							-31.814169	KEEP	3	0	-1	91	64	3	0	-1	7.23791	91	64	0.019868	1	0	0	0	0	1	0	0	0	--	--		0	C			RAB28_uc003gmt.2_Missense_Mutation_p.R146G|RAB28_uc011bwz.1_Missense_Mutation_p.R146G|RAB28_uc003gmv.2_RNA	253	GBM-41-2575-TP	p.R146G	G	TGGCAAAACCGTAAGTGTTTT	NM_001017979	NP_001017979	13383174	P51157	RAB28_HUMAN	0			5	651	-	C	C			Missense_Mutation	146						
RAB28	0	broad.mit.edu	GRCh37	4	13481054	13481054	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A			TCGA-41-5651-01	TCGA-41-5651-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330852.5:c.172G>T	p.Gly58Ter	p.G58*	ENST00000330852	NM_001017979.2	58	Gga/Tga	0			1			A	G/*	uc003gmu.2	protein_coding	YES	CCDS33961.1			172/666									ovary(1)|skin(1)	2	c.(172-174)GGA>TGA			Prints_domain:PR00449,Superfamily_domains:SSF52540,SMART_domains:SM00173,SMART_domains:SM00175,SMART_domains:SM00176,SMART_domains:SM00174,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,PROSITE_profiles:PS51419,hmmpanther:PTHR24073	RAB28, member RAS oncogene family isoform 1				ENSP00000328551		7-Feb									COSM3409056,COSM3409055	7-Feb	.		ENST00000330852	Transcript	1		small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity	ENSG00000157869	g.chr4:13481054C>A	9768			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,4,13481054,C,A&fts=all	G58*	--	--	1																																		RAB28_uc003gmt.2_Nonsense_Mutation_p.G58*|RAB28_uc011bwz.1_Nonsense_Mutation_p.G58*|RAB28_uc003gmv.2_RNA	1,1	1			p.G58*	NM_001017979	NP_001017979			1,1	RAB28_HUMAN	RAB28	HGNC	P51157	RAB28_HUMAN					2	387	-			UPI00000741FF	58					SNV	RAB28,stop_gained,p.Gly58Ter,ENST00000288723,NM_004249.3;RAB28,stop_gained,p.Gly58Ter,ENST00000338176,NM_001159601.1;RAB28,stop_gained,p.Gly58Ter,ENST00000330852,NM_001017979.2;RAB28,stop_gained,p.Gly58Ter,ENST00000508274,;	uc003gmu.2	c.172G>T	387/1715	5	2			c.172G>T						4	SNP	c.(172-174)GGA>TGA	47	47			ovary(1)|skin(1)	2	Broad	RAB28, member RAS oncogene family isoform 1			13481054		0.328	ENSG00000157869	12706	g.chr4:13481054C>A	small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity							45.114587	KEEP	10	9	0.473684211	12	15	10	9	0.473684211	45.570231	12	15	0.384615	1	0	0	0	0	0	1	0	0	--	--		0	A			RAB28_uc003gmt.2_Nonsense_Mutation_p.G58*|RAB28_uc011bwz.1_Nonsense_Mutation_p.G58*|RAB28_uc003gmv.2_RNA	258	GBM-41-5651-TP	p.G58*	C	AGTCTCTTACCTGGCAATGTT	NM_001017979	NP_001017979	13481054	P51157	RAB28_HUMAN	0			2	387	-	A	A			Nonsense_Mutation	58						
RAB30	0	broad.mit.edu	GRCh37	11	82693315	82693315	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5218-01	TCGA-28-5218-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260056.2:c.504C>T	p.Cys168=	p.C168=	ENST00000260056		168	tgC/tgT	0			1			A	C	uc001ozu.2	protein_coding		CCDS8264.1			504/612										0	c.(502-504)TGC>TGT			Gene3D:3.40.50.300,Pfam_domain:PF00071,Prints_domain:PR00449,PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF364,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540	RAB30, member RAS oncogene family				ENSP00000260056		5-May									COSM3398173	5-May	.		ENST00000260056	Transcript			protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity	ENSG00000137502	g.chr11:82693315G>A	9770			LOW								--	--	1																																		RAB30_uc009yve.2_Silent_p.C166C|RAB30_uc010rst.1_Silent_p.C166C|RAB30_uc001ozv.2_3'UTR	1				p.C168C	NM_014488	NP_055303			1	RAB30_HUMAN	RAB30	HGNC	Q15771	RAB30_HUMAN			E9PS06_HUMAN,E9PRX0_HUMAN,E9PRF7_HUMAN,E9PQ07_HUMAN,E9PMJ1_HUMAN,E9PJQ5_HUMAN,E9PI18_HUMAN,A8K5R1_HUMAN		6	765	-			UPI000002356C	168					SNV	RAB30,synonymous_variant,p.=,ENST00000533486,NM_014488.3,NM_001286060.1,NM_001286059.1,NM_001286061.1;RAB30,synonymous_variant,p.=,ENST00000260056,;RAB30,synonymous_variant,p.=,ENST00000527633,;RAB30,synonymous_variant,p.=,ENST00000531021,;RAB30,synonymous_variant,p.=,ENST00000533014,;RAB30,3_prime_UTR_variant,,ENST00000534141,;RAB30,downstream_gene_variant,,ENST00000525117,;RAB30,downstream_gene_variant,,ENST00000534301,;RP11-659G9.3,intron_variant,,ENST00000527550,;	uc001ozu.2	c.504C>T	910/1393	2	2			c.504C>T						11	SNP	c.(502-504)TGC>TGT	35	35				0	Broad	RAB30, member RAS oncogene family			82693315		0.438	ENSG00000137502	12709	g.chr11:82693315G>A	protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity							-23.373484	KEEP	1	3	-1	72	67	1	3	-1	7.387951	72	67	0.03125	1	0	0	0	0	0	0	1	0	--	--		0	A			RAB30_uc009yve.2_Silent_p.C166C|RAB30_uc010rst.1_Silent_p.C166C|RAB30_uc001ozv.2_3'UTR	224	GBM-28-5218-TP	p.C168C	G	TGATGAGTCGGCATGCTAAGT	NM_014488	NP_055303	82693315	Q15771	RAB30_HUMAN	0			6	765	-	A	A			Silent	168						
RAB38	0	broad.mit.edu	GRCh37	11	87847172	87847172	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-27-2518-01	TCGA-27-2518-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000243662.6:c.620G>T	p.Gly207Val	p.G207V	ENST00000243662	NM_022337.2	207	gGc/gTc	0			1			A	G/V	uc001pcj.1	protein_coding	YES	CCDS8281.1			620/636									upper_aerodigestive_tract(1)|large_intestine(1)	2	c.(619-621)GGC>GTC			PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF409,SMART_domains:SM00176	RAB38				ENSP00000243662		3-Mar									COSM2157279	3-Mar	.		ENST00000243662	Transcript			protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity	ENSG00000123892	g.chr11:87847172C>A	9776			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=RAB38_HUMAN&rb=180&re=211&var=G207V	NA	getma.org/?cm=var&var=hg19,11,87847172,C,A&fts=all	G207V	--	--	1																																			1	1		benign(0.004)	p.G207V	NM_022337	NP_071732		tolerated_low_confidence(0.14)	1	RAB38_HUMAN	RAB38	HGNC	P57729	RAB38_HUMAN					3	667	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	UPI000003F780	207					SNV	RAB38,missense_variant,p.Gly207Val,ENST00000243662,NM_022337.2;RAB38,missense_variant,p.Gly206Val,ENST00000526372,;RAB38,3_prime_UTR_variant,,ENST00000531138,;RP11-164N3.3,intron_variant,,ENST00000528458,;	uc001pcj.1	c.620G>T	703/1465	1	1			c.620G>T						11	SNP	c.(619-621)GGC>GTC	52	52			upper_aerodigestive_tract(1)|large_intestine(1)	2	Broad	RAB38			87847172		0.473	ENSG00000123892	12718	g.chr11:87847172C>A	protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity							182.492102	KEEP	31	45	0.592105263	89	93	31	45	0.592105263	191.243637	89	93	0.294372	1	0	0	0	0	1	0	0	0	--	--		0	A				198	GBM-27-2518-TP	p.G207V	C	TTTGGCACAGCCAGAGCAGCT	NM_022337	NP_071732	87847172	P57729	RAB38_HUMAN	0			3	667	-	A	A		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	Missense_Mutation	207						
RAB39B	0	broad.mit.edu	GRCh37	X	154490213	154490213	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-12-3650-01	TCGA-12-3650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369454.3:c.517G>T	p.Glu173Ter	p.E173*	ENST00000369454	NM_171998.2	173	Gag/Tag	0			1			A	E/*	uc004fne.2	protein_coding	YES	CCDS14766.1			517/642										0	c.(517-519)GAG>TAG			Gene3D:3.40.50.300,PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF395,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540	RAB39B, member RAS oncogene family				ENSP00000358466		2-Feb									COSM3406180	2-Feb	.		ENST00000369454	Transcript	1		protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	ENSG00000155961	g.chrX:154490213C>A	16499			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,X,154490213,C,A&fts=all	E173*	--	--	1																																			1	1			p.E173*	NM_171998	NP_741995			1	RB39B_HUMAN	RAB39B	HGNC	Q96DA2	RB39B_HUMAN					2	796	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		UPI00000412A6	173					SNV	RAB39B,stop_gained,p.Glu173Ter,ENST00000369454,NM_171998.2;	uc004fne.2	c.517G>T	818/3505	5	1			c.517G>T						23	SNP	c.(517-519)GAG>TAG	63	63				0	Broad	RAB39B, member RAS oncogene family			154490213		0.473	ENSG00000155961	12720	g.chrX:154490213C>A	protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding							156.454533	KEEP	26	26	0.5	8	5	26	26	0.5	161.272368	8	5	0.79661	1	0	0	0	0	0	1	0	0	--	--		0	A				126	GBM-12-3650-TP	p.E173*	C	TTAACCAGCTCATATATGTCT	NM_171998	NP_741995	154490213	Q96DA2	RB39B_HUMAN	0			2	796	-	A	A	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		Nonsense_Mutation	173						
RAB39B	0	broad.mit.edu	GRCh37	X	154490194	154490194	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-5950-01	TCGA-19-5950-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369454.3:c.536A>G	p.Glu179Gly	p.E179G	ENST00000369454	NM_171998.2	179	gAg/gGg	0			1			C	E/G	uc004fne.2	protein_coding	YES	CCDS14766.1			536/642										0	c.(535-537)GAG>GGG			Gene3D:3.40.50.300,PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF395,SMART_domains:SM00176,Superfamily_domains:SSF52540	RAB39B, member RAS oncogene family				ENSP00000358466		2-Feb	8.24E-06							9.89E-05	rs782746706,COSM3406179	2-Feb	.		ENST00000369454	Transcript	1		protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	ENSG00000155961	g.chrX:154490194T>C	16499			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=RB39B_HUMAN&rb=174&re=213&var=E179G	NA	getma.org/?cm=var&var=hg19,X,154490194,T,C&fts=all	E179G	--	--	1																																			0,1	1		benign(0.097)	p.E179G	NM_171998	NP_741995		tolerated(0.07)	0,1	RB39B_HUMAN	RAB39B	HGNC	Q96DA2	RB39B_HUMAN					2	815	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		UPI00000412A6	179					SNV	RAB39B,missense_variant,p.Glu179Gly,ENST00000369454,NM_171998.2;	uc004fne.2	c.536A>G	837/3505	3	3			c.536A>G						23	SNP	c.(535-537)GAG>GGG	49	49				0	Broad	RAB39B, member RAS oncogene family			154490194		0.463	ENSG00000155961	12720	g.chrX:154490194T>C	protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding							42.926391	KEEP	11	11	-1	37	68	11	11	-1	55.495942	37	68	0.166667	1	0	0	0	0	1	0	0	0	--	--		0	C				170	GBM-19-5950-TP	p.E179G	T	GATTGTAATCTCCCCCCTTTT	NM_171998	NP_741995	154490194	Q96DA2	RB39B_HUMAN	0			2	815	-	C	C	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		Missense_Mutation	179						
RAB3C	0	broad.mit.edu	GRCh37	5	57913622	57913622	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-2519-01	TCGA-27-2519-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282878.4:c.177C>T	p.Phe59=	p.F59=	ENST00000282878	NM_138453.2	59	ttC/ttT	0			1			T	F	uc003jrp.2	protein_coding	YES	CCDS3976.1			177/684									ovary(1)|central_nervous_system(1)	2	c.(175-177)TTC>TTT			Gene3D:3.40.50.300,Pfam_domain:PF00071,Prints_domain:PR00449,PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF445,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231	RAB3C, member RAS oncogene family				ENSP00000282878		5-Feb	1.65E-05							0.000122	rs764929392,COSM3410335	5-Feb	.		ENST00000282878	Transcript			protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	ENSG00000152932	g.chr5:57913622C>T	30269			LOW								--	--	1																																			0,1	1			p.F59F	NM_138453	NP_612462			0,1	RAB3C_HUMAN	RAB3C	HGNC	Q96E17	RAB3C_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)			2	274	+		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)	UPI0000133178	59			Effector region (By similarity).		SNV	RAB3C,synonymous_variant,p.=,ENST00000282878,NM_138453.2;RAB3C,non_coding_transcript_exon_variant,,ENST00000513316,;	uc003jrp.2	c.177C>T	346/8888	2	2			c.177C>T						5	SNP	c.(175-177)TTC>TTT	46	46			ovary(1)|central_nervous_system(1)	2	Broad	RAB3C, member RAS oncogene family			57913622		0.383	ENSG00000152932	12723	g.chr5:57913622C>T	protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding							111.376043	KEEP	17	25	-1	52	50	17	25	-1	116.314727	52	50	0.295455	1	0	0	0	0	0	0	1	0	--	--		0	T				199	GBM-27-2519-TP	p.F59F	C	CATCTGCATTCGTCAGCACAG	NM_138453	NP_612462	57913622	Q96E17	RAB3C_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)	2	274	+	T	T		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)	Silent	59			Effector region (By similarity).			
RAB3GAP1	0	broad.mit.edu	GRCh37	2	135893152	135893155	+	frameshift_variant	Frame_Shift_Del	DEL	GAAA	GAAA	-			TCGA-16-1045-01	TCGA-16-1045-01	GAAA	GAAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264158.8:c.1580_1583delAGAA	p.Lys527ArgfsTer34	p.K527Rfs*34	ENST00000264158	NM_012233.2	525	GAAAga/ga	0			1			-	ER/X	uc002tuj.2	protein_coding		CCDS33294.1			1573-1576/2946									ovary(1)|skin(1)	2	c.(1573-1578)GAAAGAfs			hmmpanther:PTHR21422	RAB3 GTPase-activating protein				ENSP00000264158		17/24										17/24	.		ENST00000264158	Transcript	1			centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	ENSG00000115839	g.chr2:135893152_135893155delGAAA	17063	7		HIGH								--	--	1																																		RAB3GAP1_uc010fnf.2_Frame_Shift_Del_p.E525fs|RAB3GAP1_uc010fng.2_Frame_Shift_Del_p.E350fs|RAB3GAP1_uc010fnh.1_RNA					p.E525fs	NM_012233	NP_036365				RB3GP_HUMAN	RAB3GAP1	HGNC	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	D3DP75_HUMAN,B9A6J2_HUMAN		17	1598_1601	+			UPI0000072FAA	525_526					deletion	RAB3GAP1,frameshift_variant,p.Lys527ArgfsTer34,ENST00000264158,NM_012233.2;RAB3GAP1,frameshift_variant,p.Lys527ArgfsTer34,ENST00000442034,NM_001172435.1;RAB3GAP1,frameshift_variant,p.Lys483ArgfsTer34,ENST00000539493,;SNORA40,upstream_gene_variant,,ENST00000385573,;RAB3GAP1,non_coding_transcript_exon_variant,,ENST00000487003,;ZRANB3,downstream_gene_variant,,ENST00000412849,;RAB3GAP1,downstream_gene_variant,,ENST00000489858,;	uc002tuj.2	c.1573_1576delGAAA	1616-1619/4914	5	5			c.1573_1576delGAAA						2	DEL	c.(1573-1578)GAAAGAfs	57	57			ovary(1)|skin(1)	2	Broad	RAB3 GTPase-activating protein			135893155		0.333	ENSG00000115839	12725	g.chr2:135893152_135893155delGAAA		centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding																				0.29	1	1	0	1	0	0	0	0	0	--	--		0	-			RAB3GAP1_uc010fnf.2_Frame_Shift_Del_p.E525fs|RAB3GAP1_uc010fng.2_Frame_Shift_Del_p.E350fs|RAB3GAP1_uc010fnh.1_RNA	157	GBM-16-1045-TP	p.E525fs	GAAA	TTGTTGTATTGAAAGAAAGAAGGC	NM_012233	NP_036365	135893152	Q15042	RB3GP_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.117)	17	1598_1601	+	-	-			Frame_Shift_Del	525_526						
RAB3GAP2	25782	broad.mit.edu	GRCh37	1	220335581	220335581	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0882-01	TCGA-06-0882-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358951.2:c.3184T>G	p.Leu1062Val	p.L1062V	ENST00000358951	NM_012414.3	1062	Tta/Gta	0			1			C	L/V	uc010puk.1	protein_coding	YES	CCDS31028.1			3184/4182									central_nervous_system(1)	1	c.(3184-3186)TTA>GTA			Pfam_domain:PF14656,hmmpanther:PTHR12472	rab3 GTPase-activating protein, non-catalytic				ENSP00000351832		28/35									COSM2152354	28/35	.		ENST00000358951	Transcript	1		intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	ENSG00000118873	g.chr1:220335581A>C	17168			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=RBGPR_HUMAN&rb=1&re=1390&var=L1062V	NA	getma.org/?cm=var&var=hg19,1,220335581,A,C&fts=all	L1062V	--	--	1																																		RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.L642V|RAB3GAP2_uc001hmh.2_Missense_Mutation_p.L6V	1	1		benign(0.011)	p.L1062V	NM_012414	NP_036546		tolerated(0.18)	1	RBGPR_HUMAN	RAB3GAP2	HGNC	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)			28	3348	-			UPI0000072269	1062					SNV	RAB3GAP2,missense_variant,p.Leu1062Val,ENST00000358951,NM_012414.3;	uc010puk.1	c.3184T>G	3301/7257	3	3			c.3184T>G						1	SNP	c.(3184-3186)TTA>GTA	56	56			central_nervous_system(1)	1	Broad	rab3 GTPase-activating protein, non-catalytic			220335581		0.284	ENSG00000118873	12726	g.chr1:220335581A>C	intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity							91.71136	KEEP	19	26	-1	85	70	19	26	-1	103.021325	85	70	0.223602	1	0	0	0	0	1	0	0	0	--	--		0	C			RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.L642V|RAB3GAP2_uc001hmh.2_Missense_Mutation_p.L6V	77	GBM-06-0882-TP	p.L1062V	A	CTTTTAACTAAGAACGTATTC	NM_012414	NP_036546	220335581	Q9H2M9	RBGPR_HUMAN	0		GBM - Glioblastoma multiforme(131;0.0443)	28	3348	-	C	C			Missense_Mutation	1062						
RAB3GAP2	0	broad.mit.edu	GRCh37	1	220325030	220325030	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01	TCGA-16-1045-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358951.2:c.3944C>T	p.Ala1315Val	p.A1315V	ENST00000358951	NM_012414.3	1315	gCg/gTg	0	A:0	A:0	1	A:0		A	A/V	uc010puk.1	protein_coding	YES	CCDS31028.1			3944/4182									central_nervous_system(1)	1	c.(3943-3945)GCG>GTG			Pfam_domain:PF14656,hmmpanther:PTHR12472	rab3 GTPase-activating protein, non-catalytic		A:0	A:0.0001	ENSP00000351832	A:0.001	34/35	0.00014		0.000173			0.000225			rs202192080,COSM3400337	34/35	.		ENST00000358951	Transcript	1	A:0.0002	intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	ENSG00000118873	g.chr1:220325030G>A	17168			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=RBGPR_HUMAN&rb=1&re=1390&var=A1315V	NA	getma.org/?cm=var&var=hg19,1,220325030,G,A&fts=all	A1315V	--	--	1																																		RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.A895V|RAB3GAP2_uc001hmh.2_Missense_Mutation_p.A259V	0,1	1		benign(0.355)	p.A1315V	NM_012414	NP_036546	A:0	tolerated(0.48)	0,1	RBGPR_HUMAN	RAB3GAP2	HGNC	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)			34	4108	-			UPI0000072269	1315					SNV	RAB3GAP2,missense_variant,p.Ala1315Val,ENST00000358951,NM_012414.3;IARS2,downstream_gene_variant,,ENST00000366922,;IARS2,downstream_gene_variant,,ENST00000302637,NM_018060.3;RAB3GAP2,non_coding_transcript_exon_variant,,ENST00000491005,;RAB3GAP2,non_coding_transcript_exon_variant,,ENST00000474966,;RAB3GAP2,non_coding_transcript_exon_variant,,ENST00000491305,;	uc010puk.1	c.3944C>T	4061/7257	1	1			c.3944C>T						1	SNP	c.(3943-3945)GCG>GTG	55	55			central_nervous_system(1)	1	Broad	rab3 GTPase-activating protein, non-catalytic			220325030		0.507	ENSG00000118873	12726	g.chr1:220325030G>A	intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity							-65.936364	KEEP	3	2	-1	149	144	3	2	-1	7.420277	149	144	0.017857	1	0	0	0	0	1	0	0	0	--	--		0	A			RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.A895V|RAB3GAP2_uc001hmh.2_Missense_Mutation_p.A259V	157	GBM-16-1045-TP	p.A1315V	G	GTGGAGAAGCGCATGAGCCAG	NM_012414	NP_036546	220325030	Q9H2M9	RBGPR_HUMAN	0		GBM - Glioblastoma multiforme(131;0.0443)	34	4108	-	A	A			Missense_Mutation	1315						
RAB4B-EGLN2	100529264	broad.mit.edu	GRCh37	19	41289974	41289974	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01	TCGA-06-0876-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000594136.1:c.424G>A	p.Glu142Lys	p.E142K	ENST00000594136		142	Gag/Aag	0			1			A	E/K	uc002opd.1	protein_coding		CCDS33030.1			424/642									skin(1)	1	c.(424-426)GAG>AAG			PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF387,hmmpanther:PTHR24073,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,Gene3D:3.40.50.300,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,Superfamily_domains:SSF52540	ras-related GTP-binding protein 4b				ENSP00000349560		8-May									COSM3404252	8-May	.		ENST00000357052	Transcript			protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	intracellular|plasma membrane	GTP binding|GTPase activity	ENSG00000167578	g.chr19:41289974G>A	9782			MODERATE		0.625	neutral	getma.org/?cm=msa&ty=f&p=RAB4B_HUMAN&rb=10&re=171&var=E142K	getma.org/pdb.php?prot=RAB4B_HUMAN&from=10&to=171&var=E142K	getma.org/?cm=var&var=hg19,19,41289974,G,A&fts=all	E142K	--	--	1																																		RAB4B_uc002opc.1_RNA|RAB4B_uc002ope.1_Intron|EGLN2_uc010ehd.2_5'UTR|RAB4B_uc002opf.1_Missense_Mutation_p.E168K	1			probably_damaging(0.917)	p.E142K	NM_016154	NP_057238		tolerated(0.07)	1	RAB4B_HUMAN	RAB4B	HGNC	P61018	RAB4B_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)				5	534	+			UPI000000125C	142					SNV	RAB4B,missense_variant,p.Glu142Lys,ENST00000594800,;RAB4B,missense_variant,p.Glu142Lys,ENST00000357052,NM_016154.4;RAB4B,missense_variant,p.Glu110Lys,ENST00000595728,;RAB4B,missense_variant,p.Glu121Lys,ENST00000602173,;RAB4B,non_coding_transcript_exon_variant,,ENST00000602069,;RAB4B-EGLN2,intron_variant,,ENST00000601949,;RAB4B-EGLN2,missense_variant,p.Glu142Lys,ENST00000594136,;MIA-RAB4B,3_prime_UTR_variant,,ENST00000600729,;RAB4B,non_coding_transcript_exon_variant,,ENST00000597476,;RAB4B-EGLN2,non_coding_transcript_exon_variant,,ENST00000596216,;RAB4B,intron_variant,,ENST00000378307,;RAB4B,upstream_gene_variant,,ENST00000598430,;RAB4B,downstream_gene_variant,,ENST00000600078,;	uc002opd.1	c.424G>A	534/1140	2	2			c.424G>A						19	SNP	c.(424-426)GAG>AAG	29	29			skin(1)	1	Broad	ras-related GTP-binding protein 4b			41289974		0.627	ENSG00000167578	12737	g.chr19:41289974G>A	protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	intracellular|plasma membrane	GTP binding|GTPase activity							-10.909264	KEEP	4	1	-1	72	29	4	1	-1	10.016388	72	29	0.05102	1	0	0	0	0	1	0	0	0	--	--		0	A			RAB4B_uc002opc.1_RNA|RAB4B_uc002ope.1_Intron|EGLN2_uc010ehd.2_5'UTR|RAB4B_uc002opf.1_Missense_Mutation_p.E168K	72	GBM-06-0876-TP	p.E142K	G	CTTTGCCCAGGAGAATGGTGA	NM_016154	NP_057238	41289974	P61018	RAB4B_HUMAN	0	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		5	534	+	A	A			Missense_Mutation	142						
RAB4B-EGLN2	100529264	broad.mit.edu	GRCh37	19	41292794	41292794	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01	TCGA-06-0878-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000594136.1:c.568G>A	p.Gly190Arg	p.G190R	ENST00000594136		190	Ggg/Agg	0			1			A	G/R	uc002opd.1	protein_coding		CCDS33030.1			568/642									skin(1)	1	c.(568-570)GGG>AGG			PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF387,hmmpanther:PTHR24073,Gene3D:3.40.50.300,SMART_domains:SM00176	ras-related GTP-binding protein 4b				ENSP00000349560		8-Jul	1.65E-05					3.02E-05			rs768325395,COSM3404253	8-Jul	.		ENST00000357052	Transcript			protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	intracellular|plasma membrane	GTP binding|GTPase activity	ENSG00000167578	g.chr19:41292794G>A	9782			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=RAB4B_HUMAN&rb=172&re=213&var=G190R	NA	getma.org/?cm=var&var=hg19,19,41292794,G,A&fts=all	G190R	--	--	1																																		RAB4B_uc002opc.1_RNA|RAB4B_uc002ope.1_RNA|EGLN2_uc010ehd.2_5'UTR|RAB4B_uc002opf.1_Missense_Mutation_p.G216R	0,1			possibly_damaging(0.884)	p.G190R	NM_016154	NP_057238		deleterious(0.04)	0,1	RAB4B_HUMAN	RAB4B	HGNC	P61018	RAB4B_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)				7	678	+			UPI000000125C	190					SNV	RAB4B,missense_variant,p.Gly190Arg,ENST00000594800,;RAB4B,missense_variant,p.Gly190Arg,ENST00000357052,NM_016154.4;RAB4B,missense_variant,p.Gly158Arg,ENST00000595728,;RAB4B,missense_variant,p.Gly169Arg,ENST00000602173,;RAB4B-EGLN2,non_coding_transcript_exon_variant,,ENST00000601949,;RAB4B,downstream_gene_variant,,ENST00000602069,;RAB4B-EGLN2,missense_variant,p.Gly190Arg,ENST00000594136,;RAB4B,3_prime_UTR_variant,,ENST00000378307,;RAB4B,non_coding_transcript_exon_variant,,ENST00000597476,;RAB4B,non_coding_transcript_exon_variant,,ENST00000598430,;RAB4B-EGLN2,non_coding_transcript_exon_variant,,ENST00000596216,;MIA-RAB4B,downstream_gene_variant,,ENST00000600729,;RAB4B,downstream_gene_variant,,ENST00000600078,;	uc002opd.1	c.568G>A	678/1140	2	2			c.568G>A						19	SNP	c.(568-570)GGG>AGG	24	24			skin(1)	1	Broad	ras-related GTP-binding protein 4b			41292794		0.682	ENSG00000167578	12737	g.chr19:41292794G>A	protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	intracellular|plasma membrane	GTP binding|GTPase activity							23.608563	KEEP	10	5	-1	42	70	10	5	-1	38.355352	42	70	0.132743	1	0	0	0	0	1	0	0	0	--	--		0	A			RAB4B_uc002opc.1_RNA|RAB4B_uc002ope.1_RNA|EGLN2_uc010ehd.2_5'UTR|RAB4B_uc002opf.1_Missense_Mutation_p.G216R	74	GBM-06-0878-TP	p.G190R	G	CATTCAGTACGGGGATGCGTC	NM_016154	NP_057238	41292794	P61018	RAB4B_HUMAN	0	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		7	678	+	A	A			Missense_Mutation	190						
RAB9B	0	broad.mit.edu	GRCh37	X	103080537	103080537	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-5950-01	TCGA-19-5950-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000243298.2:c.178A>G	p.Ile60Val	p.I60V	ENST00000243298	NM_016370.2	60	Atc/Gtc	0			1			C	I/V	uc004ell.1	protein_coding	YES	CCDS14515.1			178/606									lung(3)	3	c.(178-180)ATC>GTC			PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF329,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00176,SMART_domains:SM00173,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449	RAB9B, member RAS oncogene family				ENSP00000243298		3-Mar									COSM2156551	3-Mar	.		ENST00000243298	Transcript			Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding	ENSG00000123570	g.chrX:103080537T>C	14090			MODERATE		1.96	medium	getma.org/?cm=msa&ty=f&p=RAB9B_HUMAN&rb=9&re=174&var=I60V	getma.org/pdb.php?prot=RAB9B_HUMAN&from=9&to=174&var=I60V	getma.org/?cm=var&var=hg19,X,103080537,T,C&fts=all	I60V	--	--	1																																		RAB9B_uc004eli.1_Intron	1	1		probably_damaging(0.995)	p.I60V	NM_016370	NP_057454		deleterious(0.05)	1	RAB9B_HUMAN	RAB9B	HGNC	Q9NP90	RAB9B_HUMAN					3	463	-			UPI0000133185	60					SNV	RAB9B,missense_variant,p.Ile60Val,ENST00000243298,NM_016370.2;	uc004ell.1	c.178A>G	463/3748	3	3			c.178A>G						23	SNP	c.(178-180)ATC>GTC	63	63			lung(3)	3	Broad	RAB9B, member RAS oncogene family			103080537		0.507	ENSG00000123570	12749	g.chrX:103080537T>C	Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding							109.664478	KEEP	15	21	-1	32	38	15	21	-1	111.965595	32	38	0.336735	1	0	0	0	0	1	0	0	0	--	--		0	C			RAB9B_uc004eli.1_Intron	170	GBM-19-5950-TP	p.I60V	T	GTGTCCCAGATCTGGAGGGTT	NM_016370	NP_057454	103080537	Q9NP90	RAB9B_HUMAN	0			3	463	-	C	C			Missense_Mutation	60						
RAB9B	51209		GRCh37	X	103080388	103080388	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000243298.2:c.327G>A	p.Ala109=	p.A109=	ENST00000243298	NM_016370.2	109	gcG/gcA	0																																																																																																																																																																																																																																												
RABEP1	9135	broad.mit.edu	GRCh37	17	5238607	5238607	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01	TCGA-06-0743-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262477.6:c.496G>A	p.Glu166Lys	p.E166K	ENST00000262477	NM_004703.4	166	Gag/Aag	0			1			A	E/K	uc002gbm.3	protein_coding					367/2460									large_intestine(1)|ovary(1)	2	c.(496-498)GAG>AAG			Pfam_domain:PF03528,hmmpanther:PTHR31179,hmmpanther:PTHR31179:SF5,Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil	rabaptin, RAB GTPase binding effector protein 1				ENSP00000445408		17-Mar									COSM3403023	17-Mar	.		ENST00000537505	Transcript			apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	ENSG00000029725	g.chr17:5238607G>A	17677			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=RABE1_HUMAN&rb=89&re=195&var=E166K	NA	getma.org/?cm=var&var=hg19,17,5238607,G,A&fts=all	E166K	--	--	1																																		RABEP1_uc010clc.1_Missense_Mutation_p.E166K|RABEP1_uc010cld.1_Missense_Mutation_p.E123K|RABEP1_uc010vsw.1_Missense_Mutation_p.E123K|RABEP1_uc002gbl.3_Missense_Mutation_p.E166K|RABEP1_uc002gbj.2_Missense_Mutation_p.E166K|RABEP1_uc002gbk.2_Missense_Mutation_p.E166K	1			possibly_damaging(0.661)	p.E166K	NM_004703	NP_004694			1		RABEP1	HGNC	Q15276	RABE1_HUMAN			F5H355_HUMAN		4	720	+			UPI0002064F7C	166			Potential.		SNV	RABEP1,missense_variant,p.Glu166Lys,ENST00000262477,NM_004703.4;RABEP1,missense_variant,p.Glu166Lys,ENST00000408982,NM_001083585.1;RABEP1,missense_variant,p.Glu166Lys,ENST00000546142,;RABEP1,missense_variant,p.Glu123Lys,ENST00000537505,;RABEP1,missense_variant,p.Glu166Lys,ENST00000341923,;RABEP1,non_coding_transcript_exon_variant,,ENST00000570487,;RABEP1,non_coding_transcript_exon_variant,,ENST00000575475,;	uc002gbm.3	c.496G>A	580/2875	1	1			c.496G>A						17	SNP	c.(496-498)GAG>AAG	60	60			large_intestine(1)|ovary(1)	2	Broad	rabaptin, RAB GTPase binding effector protein 1			5238607		0.383	ENSG00000029725	12751	g.chr17:5238607G>A	apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			903			903	-2.248923	KEEP	2	2	-1	26	31	2	2	-1	8.356895	26	31	0.071429	1	0	0	0	0	1	0	0	0	--	--		0	A			RABEP1_uc010clc.1_Missense_Mutation_p.E166K|RABEP1_uc010cld.1_Missense_Mutation_p.E123K|RABEP1_uc010vsw.1_Missense_Mutation_p.E123K|RABEP1_uc002gbl.3_Missense_Mutation_p.E166K|RABEP1_uc002gbj.2_Missense_Mutation_p.E166K|RABEP1_uc002gbk.2_Missense_Mutation_p.E166K	65	GBM-06-0743-TP	p.E166K	G	TGAAGGTCAAGAGGAGGAAAA	NM_004703	NP_004694	5238607	Q15276	RABE1_HUMAN	0			4	720	+	A	A			Missense_Mutation	166			Potential.			
RABEP1	9135	broad.mit.edu	GRCh37	17	5286437	5286437	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2557-01	TCGA-06-2557-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262477.6:c.2508G>A	p.Arg836=	p.R836=	ENST00000262477	NM_004703.4	836	cgG/cgA	0			1			A	R	uc002gbm.3	protein_coding					2379/2460									large_intestine(1)|ovary(1)	2	c.(2506-2508)CGG>CGA			Superfamily_domains:SSF103652,Gene3D:1.20.5.730,hmmpanther:PTHR31179,hmmpanther:PTHR31179:SF5	rabaptin, RAB GTPase binding effector protein 1				ENSP00000445408		17/17									COSM561683	17/17	.		ENST00000537505	Transcript			apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	ENSG00000029725	g.chr17:5286437G>A	17677			LOW								--	--	1																																		RABEP1_uc010vsw.1_Silent_p.R793R|RABEP1_uc002gbl.3_Silent_p.R803R|NUP88_uc002gbn.2_Intron	1				p.R836R	NM_004703	NP_004694			1		RABEP1	HGNC	Q15276	RABE1_HUMAN			F5H355_HUMAN		18	2732	+			UPI0002064F7C	836					SNV	RABEP1,synonymous_variant,p.=,ENST00000262477,NM_004703.4;RABEP1,synonymous_variant,p.=,ENST00000408982,NM_001083585.1;RABEP1,synonymous_variant,p.=,ENST00000546142,;RABEP1,synonymous_variant,p.=,ENST00000537505,;RABEP1,synonymous_variant,p.=,ENST00000341923,;NUP88,downstream_gene_variant,,ENST00000573584,NM_002532.4;NUP88,downstream_gene_variant,,ENST00000225696,;RABEP1,downstream_gene_variant,,ENST00000572250,;NUP88,intron_variant,,ENST00000573169,;NUP88,intron_variant,,ENST00000576708,;RABEP1,downstream_gene_variant,,ENST00000575475,;NUP88,downstream_gene_variant,,ENST00000576862,;NUP88,downstream_gene_variant,,ENST00000575976,;NUP88,downstream_gene_variant,,ENST00000574087,;NUP88,downstream_gene_variant,,ENST00000574855,;	uc002gbm.3	c.2508G>A	2592/2875	2	2			c.2508G>A						17	SNP	c.(2506-2508)CGG>CGA	36	36			large_intestine(1)|ovary(1)	2	Broad	rabaptin, RAB GTPase binding effector protein 1			5286437		0.473	ENSG00000029725	12751	g.chr17:5286437G>A	apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			903			903	-30.721191	KEEP	2	2	-1	69	91	2	2	-1	6.98801	69	91	0.026316	1	0	0	0	0	0	0	1	0	--	--		0	A			RABEP1_uc010vsw.1_Silent_p.R793R|RABEP1_uc002gbl.3_Silent_p.R803R|NUP88_uc002gbn.2_Intron	81	GBM-06-2557-TP	p.R836R	G	AGCGGATCCGGCAAGCTGACT	NM_004703	NP_004694	5286437	Q15276	RABE1_HUMAN	0			18	2732	+	A	A			Silent	836						
RABEP1	0	broad.mit.edu	GRCh37	17	5235422	5235422	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-41-2572-01	TCGA-41-2572-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000537505.1:c.213T>G	p.Val71=	p.V71=	ENST00000537505		71	gtT/gtG	0			1			G	V	uc002gbm.3	protein_coding					213/2460									large_intestine(1)|ovary(1)	2	c.(340-342)GTT>GTG			Pfam_domain:PF03528,hmmpanther:PTHR31179,hmmpanther:PTHR31179:SF5,Coiled-coils_(Ncoils):Coil	rabaptin, RAB GTPase binding effector protein 1				ENSP00000445408		17-Feb									COSM3403022	17-Feb	.		ENST00000537505	Transcript			apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	ENSG00000029725	g.chr17:5235422T>G	17677			LOW								--	--	1																																		RABEP1_uc010clc.1_Silent_p.V114V|RABEP1_uc010cld.1_Silent_p.V71V|RABEP1_uc010vsw.1_Silent_p.V71V|RABEP1_uc002gbl.3_Silent_p.V114V|RABEP1_uc002gbj.2_Silent_p.V114V|RABEP1_uc002gbk.2_Silent_p.V114V	1				p.V114V	NM_004703	NP_004694			1		RABEP1	HGNC	Q15276	RABE1_HUMAN			F5H355_HUMAN		3	566	+			UPI0002064F7C	114			Potential.		SNV	RABEP1,synonymous_variant,p.=,ENST00000262477,NM_004703.4;RABEP1,synonymous_variant,p.=,ENST00000408982,NM_001083585.1;RABEP1,synonymous_variant,p.=,ENST00000546142,;RABEP1,synonymous_variant,p.=,ENST00000537505,;RABEP1,synonymous_variant,p.=,ENST00000341923,;RABEP1,non_coding_transcript_exon_variant,,ENST00000570487,;RABEP1,non_coding_transcript_exon_variant,,ENST00000575475,;	uc002gbm.3	c.342T>G	426/2875	4	4			c.342T>G						17	SNP	c.(340-342)GTT>GTG	24	24			large_intestine(1)|ovary(1)	2	Broad	rabaptin, RAB GTPase binding effector protein 1			5235422		0.378	ENSG00000029725	12751	g.chr17:5235422T>G	apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			903			903	-23.380677	KEEP	1	2	-1	66	75	1	2	-1	6.353906	66	75	0.02521	1	0	0	0	0	0	0	1	0	--	--		0	G			RABEP1_uc010clc.1_Silent_p.V114V|RABEP1_uc010cld.1_Silent_p.V71V|RABEP1_uc010vsw.1_Silent_p.V71V|RABEP1_uc002gbl.3_Silent_p.V114V|RABEP1_uc002gbj.2_Silent_p.V114V|RABEP1_uc002gbk.2_Silent_p.V114V	251	GBM-41-2572-TP	p.V114V	T	GAGAAGAAGTTGCTTCACTTC	NM_004703	NP_004694	5235422	Q15276	RABE1_HUMAN	0			3	566	+	G	G			Silent	114			Potential.			
RABGAP1	0	broad.mit.edu	GRCh37	9	125748579	125748579	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-12-0692-01	TCGA-12-0692-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373647.4:c.471G>T	p.Ser157=	p.S157=	ENST00000373647	NM_012197.3	157	tcG/tcT	0			1			T	S	uc011lzh.1	protein_coding	YES	CCDS6848.2			471/3210									ovary(3)|kidney(2)	5	c.(469-471)TCG>TCT			Gene3D:2.30.29.30,Pfam_domain:PF00640,PROSITE_profiles:PS01179,SMART_domains:SM00462,Superfamily_domains:SSF50729	RAB GTPase activating protein 1				ENSP00000362751		26-Apr									COSM3413323,COSM3413324,COSM3413322	26-Apr	.		ENST00000373647	Transcript			cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	ENSG00000011454	g.chr9:125748579G>T	17155			LOW								--	--	1																																		RABGAP1_uc004bnl.3_RNA|RABGAP1_uc004bnm.1_Silent_p.S157S	1,1,1	1			p.S157S	NM_012197	NP_036329			1,1,1	RBGP1_HUMAN	RABGAP1	HGNC	Q9Y3P9	RBGP1_HUMAN			B7Z2B4_HUMAN,B5MCD9_HUMAN		4	605	+			UPI00000373F8	157			PID.		SNV	RABGAP1,synonymous_variant,p.=,ENST00000373647,NM_012197.3;RABGAP1,downstream_gene_variant,,ENST00000402311,;RABGAP1,non_coding_transcript_exon_variant,,ENST00000459903,;RABGAP1,synonymous_variant,p.=,ENST00000456584,;RABGAP1,3_prime_UTR_variant,,ENST00000426918,;RABGAP1,non_coding_transcript_exon_variant,,ENST00000317419,;RABGAP1,upstream_gene_variant,,ENST00000485090,;	uc011lzh.1	c.471G>T	605/4997	1	1			c.471G>T						9	SNP	c.(469-471)TCG>TCT	6	6			ovary(3)|kidney(2)	5	Broad	RAB GTPase activating protein 1			125748579		0.453	ENSG00000011454	12754	g.chr9:125748579G>T	cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding							3.608118	KEEP	7	6	0.538461538	84	66	7	6	0.538461538	31.083053	84	66	0.083333	1	0	0	0	0	0	0	1	0	--	--		0	T			RABGAP1_uc004bnl.3_RNA|RABGAP1_uc004bnm.1_Silent_p.S157S	122	GBM-12-0692-TP	p.S157S	G	GCTGTGCCTCGGTAAATGCTC	NM_012197	NP_036329	125748579	Q9Y3P9	RBGP1_HUMAN	0			4	605	+	T	T			Silent	157			PID.			
RABGGTA	0	broad.mit.edu	GRCh37	14	24739285	24739285	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5220-01	TCGA-28-5220-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216840.6:c.301C>T	p.Arg101Trp	p.R101W	ENST00000216840	NM_182836.2	101	Cgg/Tgg	0			1			A	R/W	uc001wof.2	protein_coding		CCDS45088.1			301/1704										0	c.(301-303)CGG>TGG			Gene3D:1.25.40.120,Pfam_domain:PF01239,PROSITE_profiles:PS51147,hmmpanther:PTHR11129,hmmpanther:PTHR11129:SF2,Superfamily_domains:SSF48439	Rab geranylgeranyltransferase alpha				ENSP00000216840		17-May	1.65E-05	0.000132						7.14E-05	rs756007491,COSM3401261	17-May	.		ENST00000216840	Transcript			visual perception		Rab geranylgeranyltransferase activity|zinc ion binding	ENSG00000100949	g.chr14:24739285G>A	9795			MODERATE		2.37	medium	getma.org/?cm=msa&ty=f&p=PGTA_HUMAN&rb=91&re=121&var=R101W	getma.org/pdb.php?prot=PGTA_HUMAN&from=91&to=121&var=R101W	getma.org/?cm=var&var=hg19,14,24739285,G,A&fts=all	R101W	--	--	1																																		RABGGTA_uc001woe.2_RNA|RABGGTA_uc001wog.2_Missense_Mutation_p.R101W|RABGGTA_uc001woh.2_RNA|RABGGTA_uc001woi.2_RNA	0,1			possibly_damaging(0.867)	p.R101W	NM_004581	NP_004572		deleterious(0)	0,1	PGTA_HUMAN	RABGGTA	HGNC	Q92696	PGTA_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	H0YLG7_HUMAN,D3DS70_HUMAN		4	723	-			UPI000013188E	101			PFTA 2.		SNV	RABGGTA,missense_variant,p.Arg101Trp,ENST00000399409,NM_004581.5;RABGGTA,missense_variant,p.Arg101Trp,ENST00000216840,NM_182836.2;RABGGTA,upstream_gene_variant,,ENST00000560777,;RABGGTA,upstream_gene_variant,,ENST00000560521,;RABGGTA,non_coding_transcript_exon_variant,,ENST00000559586,;RABGGTA,non_coding_transcript_exon_variant,,ENST00000560163,;RABGGTA,non_coding_transcript_exon_variant,,ENST00000558534,;RABGGTA,non_coding_transcript_exon_variant,,ENST00000558954,;RABGGTA,upstream_gene_variant,,ENST00000560871,;RABGGTA,missense_variant,p.Arg101Trp,ENST00000559974,;RABGGTA,missense_variant,p.Arg101Trp,ENST00000558376,;RABGGTA,3_prime_UTR_variant,,ENST00000560127,;RABGGTA,non_coding_transcript_exon_variant,,ENST00000559551,;RABGGTA,non_coding_transcript_exon_variant,,ENST00000560998,;RABGGTA,non_coding_transcript_exon_variant,,ENST00000543002,;RABGGTA,non_coding_transcript_exon_variant,,ENST00000558936,;RABGGTA,upstream_gene_variant,,ENST00000558649,;RABGGTA,upstream_gene_variant,,ENST00000561055,;RABGGTA,upstream_gene_variant,,ENST00000560243,;RABGGTA,downstream_gene_variant,,ENST00000560207,;RABGGTA,upstream_gene_variant,,ENST00000559850,;	uc001wof.2	c.301C>T	608/2088	2	2			c.301C>T						14	SNP	c.(301-303)CGG>TGG	17	17				0	Broad	Rab geranylgeranyltransferase alpha			24739285		0.632	ENSG00000100949	12757	g.chr14:24739285G>A	visual perception		Rab geranylgeranyltransferase activity|zinc ion binding							31.454683	KEEP	7	4	-1	3	5	7	4	-1	31.571273	3	5	0.588235	1	0	0	0	0	1	0	0	0	--	--		0	A			RABGGTA_uc001woe.2_RNA|RABGGTA_uc001wog.2_Missense_Mutation_p.R101W|RABGGTA_uc001woh.2_RNA|RABGGTA_uc001woi.2_RNA	226	GBM-28-5220-TP	p.R101W	G	GGGTTCACCCGCAGGCAGCTC	NM_004581	NP_004572	24739285	Q92696	PGTA_HUMAN	0		GBM - Glioblastoma multiforme(265;0.0184)	4	723	-	A	A			Missense_Mutation	101			PFTA 2.			
RABL6	0	broad.mit.edu	GRCh37	9	139726289	139726289	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01	TCGA-19-5951-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311502.7:c.575G>A	p.Arg192His	p.R192H	ENST00000311502		192	cGt/cAt	0			1			A	R/H	uc004cji.1	protein_coding		CCDS48058.1			575/2190										0	c.(574-576)CGT>CAT			PROSITE_profiles:PS51419,hmmpanther:PTHR14932,Gene3D:3.40.50.300,SMART_domains:SM00175,Superfamily_domains:SSF52540	Rab-like GTP-binding protein 1 isoform 1				ENSP00000311134		15-Jun	4.96E-05		9.19E-05	0.000242		4.80E-05			rs768023550,COSM3413473,COSM3413471,COSM3413474,COSM3413472	15-Jun	.		ENST00000311502	Transcript			small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding	ENSG00000196642	g.chr9:139726289G>A	24703			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=RBEL1_HUMAN&rb=1&re=200&var=R192H	getma.org/pdb.php?prot=RBEL1_HUMAN&from=1&to=200&var=R192H	getma.org/?cm=var&var=hg19,9,139726289,G,A&fts=all	R192H	--	--	1																																		C9orf86_uc004cjm.2_Missense_Mutation_p.R192H|C9orf86_uc004cjh.2_Missense_Mutation_p.R192H|C9orf86_uc004cjj.1_Missense_Mutation_p.R192H|C9orf86_uc004cjk.1_RNA|C9orf86_uc010nbr.1_Missense_Mutation_p.R192H|C9orf86_uc004cjl.1_RNA|C9orf86_uc010nbs.1_Missense_Mutation_p.R77H	0,1,1,1,1			benign(0.181)	p.R192H	NM_024718	NP_078994		deleterious(0)	0,1,1,1,1	RABL6_HUMAN	RABL6	HGNC	Q3YEC7	PARF_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)	G8JLF3_HUMAN		6	843	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	UPI0000210F94	192			Small GTPase-like.		SNV	RABL6,missense_variant,p.Arg77His,ENST00000371675,;RABL6,missense_variant,p.Arg192His,ENST00000371663,NM_001173988.1,NM_024718.4;RABL6,missense_variant,p.Arg192His,ENST00000311502,;RABL6,missense_variant,p.Arg149His,ENST00000436380,;RABL6,missense_variant,p.Arg154His,ENST00000432842,;RABL6,missense_variant,p.Arg192His,ENST00000357466,;RABL6,missense_variant,p.Arg192His,ENST00000371671,NM_001173989.2;RABL6,missense_variant,p.Arg103His,ENST00000425121,;RABL6,upstream_gene_variant,,ENST00000435930,;MIR4292,downstream_gene_variant,,ENST00000585012,;RABL6,non_coding_transcript_exon_variant,,ENST00000466096,;RABL6,non_coding_transcript_exon_variant,,ENST00000461992,;RABL6,missense_variant,p.Arg154His,ENST00000464941,;RABL6,missense_variant,p.Arg192His,ENST00000484471,;RP11-216L13.18,downstream_gene_variant,,ENST00000471502,;	uc004cji.1	c.575G>A	811/3091	2	2			c.575G>A						9	SNP	c.(574-576)CGT>CAT	47	47				0	Broad	Rab-like GTP-binding protein 1 isoform 1			139726289		0.677	ENSG00000196642	2453	g.chr9:139726289G>A	small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding							28.343009	KEEP	10	0	-1	9	10	10	0	-1	28.741665	9	10	0.37037	1	0	0	0	0	1	0	0	0	--	--		0	A			C9orf86_uc004cjm.2_Missense_Mutation_p.R192H|C9orf86_uc004cjh.2_Missense_Mutation_p.R192H|C9orf86_uc004cjj.1_Missense_Mutation_p.R192H|C9orf86_uc004cjk.1_RNA|C9orf86_uc010nbr.1_Missense_Mutation_p.R192H|C9orf86_uc004cjl.1_RNA|C9orf86_uc010nbs.1_Missense_Mutation_p.R77H	171	GBM-19-5951-TP	p.R192H	G	GACGACGTGCGTGACTTCATC	NM_024718	NP_078994	139726289	Q3YEC7	PARF_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)	6	843	+	A	A	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	Missense_Mutation	192			Small GTPase-like.			
RAC3	5881		GRCh37	17	79991354	79991354	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000306897.4:c.327C>T	p.Pro109=	p.P109=	ENST00000306897	NM_005052.2	109	ccC/ccT	0																																																																																																																																																																																																																																												
RACGAP1	29127	broad.mit.edu	GRCh37	12	50388234	50388234	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0210-01	TCGA-06-0210-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000434422.1:c.1103A>T	p.His368Leu	p.H368L	ENST00000434422		368	cAt/cTt	0			1			A	H/L	uc001rvt.2	protein_coding		CCDS8795.1			1103/1899									kidney(1)	1	c.(1102-1104)CAT>CTT			Gene3D:1.10.555.10,Pfam_domain:PF00620,PROSITE_profiles:PS50238,hmmpanther:PTHR23174,hmmpanther:PTHR23174:SF7,SMART_domains:SM00324,Superfamily_domains:SSF48350	Rac GTPase activating protein 1				ENSP00000309871		17-Nov									COSM3398790	17-Nov	.		ENST00000312377	Transcript			blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding	ENSG00000161800	g.chr12:50388234T>A	9804			MODERATE		1.205	low	getma.org/?cm=msa&ty=f&p=RGAP1_HUMAN&rb=363&re=513&var=H368L	getma.org/pdb.php?prot=RGAP1_HUMAN&from=363&to=513&var=H368L	getma.org/?cm=var&var=hg19,12,50388234,T,A&fts=all	H368L	--	--	1																																		RACGAP1_uc009zlm.1_Missense_Mutation_p.H368L|RACGAP1_uc001rvs.2_Missense_Mutation_p.H368L|RACGAP1_uc001rvu.2_Missense_Mutation_p.H368L	1			possibly_damaging(0.449)	p.H368L	NM_013277	NP_037409		deleterious(0)	1	RGAP1_HUMAN	RACGAP1	HGNC	Q9H0H5	RGAP1_HUMAN			F8W0L1_HUMAN,F8VZ66_HUMAN,F8VYH6_HUMAN,F8VWY4_HUMAN,F8VWX0_HUMAN,F8VV47_HUMAN,F8VV39_HUMAN,F8VV37_HUMAN,F8VUW9_HUMAN,F8VS54_HUMAN,F8VRL2_HUMAN,F8VRD2_HUMAN,F8VQZ5_HUMAN		13	1413	-			UPI0000037CA0	368			Rho-GAP.		SNV	RACGAP1,missense_variant,p.His368Leu,ENST00000434422,;RACGAP1,missense_variant,p.His368Leu,ENST00000427314,NM_013277.3;RACGAP1,missense_variant,p.His368Leu,ENST00000454520,NM_001126104.1;RACGAP1,missense_variant,p.His368Leu,ENST00000312377,;RACGAP1,missense_variant,p.His368Leu,ENST00000551016,;RACGAP1,missense_variant,p.His368Leu,ENST00000547905,NM_001126103.1;RACGAP1,missense_variant,p.His104Leu,ENST00000549342,;RACGAP1,downstream_gene_variant,,ENST00000552310,;RACGAP1,downstream_gene_variant,,ENST00000548320,;RACGAP1,upstream_gene_variant,,ENST00000548961,;RACGAP1,downstream_gene_variant,,ENST00000547061,;RACGAP1,downstream_gene_variant,,ENST00000548158,;RACGAP1,downstream_gene_variant,,ENST00000548598,;	uc001rvt.2	c.1103A>T	1171/3073	2	2			c.1103A>T						12	SNP	c.(1102-1104)CAT>CTT	43	43			kidney(1)	1	Broad	Rac GTPase activating protein 1			50388234		0.378	ENSG00000161800	12767	g.chr12:50388234T>A	blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding							-23.612564	KEEP	1	3	-1	76	81	1	3	-1	8.329203	76	81	0.030303	1	0	0	0	0	1	0	0	0	--	--		0	A			RACGAP1_uc009zlm.1_Missense_Mutation_p.H368L|RACGAP1_uc001rvs.2_Missense_Mutation_p.H368L|RACGAP1_uc001rvu.2_Missense_Mutation_p.H368L	47	GBM-06-0210-TP	p.H368L	T	ATTTACACAATGCACAACAAT	NM_013277	NP_037409	50388234	Q9H0H5	RGAP1_HUMAN	0			13	1413	-	A	A			Missense_Mutation	368			Rho-GAP.			
RAD21	0	broad.mit.edu	GRCh37	8	117875483	117875483	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2514-01	TCGA-28-2514-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297338.2:c.160C>T	p.Arg54Trp	p.R54W	ENST00000297338	NM_006265.2	54	Cgg/Tgg	0			1			A	R/W	uc003yod.2	protein_coding	YES	CCDS6321.1			160/1896									lung(1)|skin(1)	2	c.(160-162)CGG>TGG			Pfam_domain:PF04825,hmmpanther:PTHR12585,hmmpanther:PTHR12585:SF20	RAD21 homolog				ENSP00000297338		14-Mar									COSM3412707	14-Mar	.		ENST00000297338	Transcript	1		apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	ENSG00000164754	g.chr8:117875483G>A	9811			MODERATE		3.99	high	getma.org/?cm=msa&ty=f&p=RAD21_HUMAN&rb=1&re=111&var=R54W	NA	getma.org/?cm=var&var=hg19,8,117875483,G,A&fts=all	R54W	--	--	1																																			1	1		probably_damaging(1)	p.R54W	NM_006265	NP_006256		deleterious(0)	1	RAD21_HUMAN	RAD21	HGNC	O60216	RAD21_HUMAN			E5RJW1_HUMAN,E5RJK5_HUMAN,E5RIN7_HUMAN,E5RI01_HUMAN,E5RG18_HUMAN,E5RFZ5_HUMAN,E5RFV8_HUMAN		3	448	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		UPI0000133018	54					SNV	RAD21,missense_variant,p.Arg54Trp,ENST00000297338,NM_006265.2;RAD21,missense_variant,p.Arg54Trp,ENST00000517485,;RAD21,missense_variant,p.Arg54Trp,ENST00000520992,;RAD21,missense_variant,p.Arg54Trp,ENST00000522699,;RAD21,missense_variant,p.Arg54Trp,ENST00000519837,;RAD21,non_coding_transcript_exon_variant,,ENST00000523547,;RAD21,non_coding_transcript_exon_variant,,ENST00000519469,;	uc003yod.2	c.160C>T	448/3749	2	2			c.160C>T						8	SNP	c.(160-162)CGG>TGG	17	17			lung(1)|skin(1)	2	Broad	RAD21 homolog			117875483		0.348	ENSG00000164754	12771	g.chr8:117875483G>A	apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			357			357	287.434406	KEEP	55	52	-1	69	82	55	52	-1	288.663941	69	82	0.421739	1	0	0	0	0	1	0	0	0	--	--		0	A				214	GBM-28-2514-TP	p.R54W	G	CCTGATGTCCGTAATGCCATT	NM_006265	NP_006256	117875483	O60216	RAD21_HUMAN	0			3	448	-	A	A	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		Missense_Mutation	54						
RAD23B	0	broad.mit.edu	GRCh37	9	110084381	110084383	+	inframe_deletion	In_Frame_Del	DEL	ACA	ACA	-			TCGA-27-2519-01	TCGA-27-2519-01	ACA	ACA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358015.3:c.806_808delCAA	p.Thr269del	p.T269del	ENST00000358015	NM_002874.4	267	ACA/-	0			1			-	T/-	uc004bde.2	protein_coding	YES	CCDS6769.1			799-801/1230									ovary(1)	1	c.(799-801)ACAdel		Direct_reversal_of_damage|NER	Low_complexity_(Seg):seg,hmmpanther:PTHR10621,hmmpanther:PTHR10621:SF2,TIGRFAM_domain:TIGR00601	UV excision repair protein RAD23 homolog B				ENSP00000350708		10-Jul	4.12E-05	9.62E-05	0.000173			3.00E-05			rs774881434	10-Jul	.		ENST00000358015	Transcript			nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	ENSG00000119318	g.chr9:110084381_110084383delACA	9813	7		MODERATE								--	--	1																																		RAD23B_uc011lwa.1_In_Frame_Del_p.T269del|RAD23B_uc011lwb.1_In_Frame_Del_p.T248del		1			p.T269del	NM_002874	NP_002865				RD23B_HUMAN	RAD23B	HGNC	P54727	RD23B_HUMAN			Q5W0S5_HUMAN		7	1166_1168	+			UPI0000132F6C	269			Poly-Thr.		deletion	RAD23B,inframe_deletion,p.Thr269del,ENST00000358015,NM_002874.4,NM_001244713.1;RAD23B,inframe_deletion,p.Thr197del,ENST00000416373,NM_001244724.1;RAD23B,intron_variant,,ENST00000457811,;	uc004bde.2	c.799_801delACA	1150-1152/4119	5	5			c.799_801delACA						9	DEL	c.(799-801)ACAdel	5	5			ovary(1)	1	Broad	UV excision repair protein RAD23 homolog B	Direct_reversal_of_damage|NER		110084383		0.468	ENSG00000119318	12773	g.chr9:110084381_110084383delACA	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding																				0.32	1	1	0	1	0	0	0	0	0	--	--		0	-			RAD23B_uc011lwa.1_In_Frame_Del_p.T269del|RAD23B_uc011lwb.1_In_Frame_Del_p.T248del	199	GBM-27-2519-TP	p.T269del	ACA	AGCAACAACTACAACAACAAGTT	NM_002874	NP_002865	110084381	P54727	RD23B_HUMAN	0			7	1166_1168	+	-	-			In_Frame_Del	269			Poly-Thr.			
RAD50	0	broad.mit.edu	GRCh37	5	131927096	131927096	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-2554-01	TCGA-14-2554-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378823.3:c.1216A>G	p.Lys406Glu	p.K406E	ENST00000378823	NM_005732.3	406	Aaa/Gaa	0			1			G	K/E	uc003kxi.2	protein_coding					1216/3522									lung(2)|ovary(1)|skin(1)	4	c.(1633-1635)AAA>GAA		Homologous_recombination	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18867,hmmpanther:PTHR18867:SF12,TIGRFAM_domain:TIGR00606	RAD50 homolog isoform 1				ENSP00000368100		25-Oct									COSM3409731,COSM3409730	25-Oct	.		ENST00000378823	Transcript	1		DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	ENSG00000113522	g.chr5:131927096A>G	9816			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=RAD50_HUMAN&rb=499&re=657&var=K545E	NA	getma.org/?cm=var&var=hg19,5,131927096,A,G&fts=all	K545E	--	--	1																																		RAD50_uc003kxh.2_Missense_Mutation_p.K406E	1,1			probably_damaging(0.979)	p.K545E	NM_005732	NP_005723		deleterious(0.02)	1,1	RAD50_HUMAN	RAD50	HGNC	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)				10	2020	+		all_cancers(142;0.0368)|Breast(839;0.198)	UPI000006F2C4	545			Potential.		SNV	RAD50,missense_variant,p.Lys406Glu,ENST00000378823,NM_005732.3;RAD50,missense_variant,p.Lys545Glu,ENST00000265335,;RAD50,missense_variant,p.Lys44Glu,ENST00000434288,;RAD50,intron_variant,,ENST00000453394,;RAD50,downstream_gene_variant,,ENST00000487596,;RAD50,upstream_gene_variant,,ENST00000496204,;RAD50,missense_variant,p.Lys545Glu,ENST00000423956,;RAD50,splice_region_variant,,ENST00000533482,;	uc003kxi.2	c.1633A>G	2034/6597	3	3			c.1633A>G						5	SNP	c.(1633-1635)AAA>GAA	4	4			lung(2)|ovary(1)|skin(1)	4	Broad	RAD50 homolog isoform 1	Homologous_recombination		131927096		0.378	ENSG00000113522	12774	g.chr5:131927096A>G	DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			407			407	74.234596	KEEP	11	14	-1	22	22	11	14	-1	75.385013	22	22	0.354839	1	0	0	0	0	1	0	0	0	--	--		0	G			RAD50_uc003kxh.2_Missense_Mutation_p.K406E	150	GBM-14-2554-TP	p.K545E	A	GACCAAAGACAAAGTATGATT	NM_005732	NP_005723	131927096	Q92878	RAD50_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		10	2020	+	G	G		all_cancers(142;0.0368)|Breast(839;0.198)	Missense_Mutation	545			Potential.			
RAD51AP2	729475	broad.mit.edu	GRCh37	2	17699042	17699042	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0211-01	TCGA-06-0211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399080.2:c.641C>A	p.Ala214Asp	p.A214D	ENST00000399080	NM_001099218.2	214	gCt/gAt	0			1			T	A/D	uc002rcl.1	protein_coding	YES	CCDS42656.1			641/3480									ovary(1)	1	c.(640-642)GCT>GAT				RAD51 associated protein 2				ENSP00000382030		3-Jan									COSM2150727	3-Jan	.		ENST00000399080	Transcript						ENSG00000214842	g.chr2:17699042G>T	34417			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=R51A2_HUMAN&rb=1&re=1155&var=A214D	NA	getma.org/?cm=var&var=hg19,2,17699042,G,T&fts=all	A214D	--	--	1																																		RAD51AP2_uc010exn.1_Missense_Mutation_p.A205D	1	1		probably_damaging(0.92)	p.A214D	NM_001099218	NP_001092688		deleterious(0)	1	R51A2_HUMAN	RAD51AP2	HGNC	Q09MP3	R51A2_HUMAN					1	665	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		UPI0000418FD4	214					SNV	RAD51AP2,missense_variant,p.Ala214Asp,ENST00000399080,NM_001099218.2;	uc002rcl.1	c.641C>A	665/3724	1	1			c.641C>A						2	SNP	c.(640-642)GCT>GAT	9	9			ovary(1)	1	Broad	RAD51 associated protein 2			17699042		0.313	ENSG00000214842	12777	g.chr2:17699042G>T										117.805817	KEEP	23	23	0.5	33	57	23	23	0.5	120.661071	33	57	0.33871	1	0	0	0	0	1	0	0	0	--	--		0	T			RAD51AP2_uc010exn.1_Missense_Mutation_p.A205D	48	GBM-06-0211-TP	p.A214D	G	AACACTGTTAGCTTTACATCT	NM_001099218	NP_001092688	17699042	Q09MP3	R51A2_HUMAN	0			1	665	-	T	T	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		Missense_Mutation	214						
RAD51AP2	729475	broad.mit.edu	GRCh37	2	17692095	17692095	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6388-01	TCGA-06-6388-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399080.2:c.3456C>T	p.Tyr1152=	p.Y1152=	ENST00000399080	NM_001099218.2	1152	taC/taT	0			1			A	Y	uc002rcl.1	protein_coding	YES	CCDS42656.1			3456/3480									ovary(1)	1	c.(3454-3456)TAC>TAT				RAD51 associated protein 2				ENSP00000382030		3-Mar	6.63E-05			0.000476		0.000166			rs746043981,COSM3407072	3-Mar	common_variant		ENST00000399080	Transcript						ENSG00000214842	g.chr2:17692095G>A	34417			LOW								--	--	1																																		RAD51AP2_uc010exn.1_Silent_p.Y1143Y	0,1	1			p.Y1152Y	NM_001099218	NP_001092688			0,1	R51A2_HUMAN	RAD51AP2	HGNC	Q09MP3	R51A2_HUMAN					3	3480	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		UPI0000418FD4	1152			Interaction with RAD51.		SNV	RAD51AP2,synonymous_variant,p.=,ENST00000399080,NM_001099218.2;	uc002rcl.1	c.3456C>T	3480/3724	2	2			c.3456C>T						2	SNP	c.(3454-3456)TAC>TAT	20	20			ovary(1)	1	Broad	RAD51 associated protein 2			17692095		0.338	ENSG00000214842	12777	g.chr2:17692095G>A										19.521912	KEEP	8	1	-1	8	5	8	1	-1	19.810253	8	5	0.368421	1	0	0	0	0	0	0	1	0	--	--		0	A			RAD51AP2_uc010exn.1_Silent_p.Y1143Y	104	GBM-06-6388-TP	p.Y1152Y	G	TTAAGTTTCCGTAACACATTT	NM_001099218	NP_001092688	17692095	Q09MP3	R51A2_HUMAN	0			3	3480	-	A	A	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		Silent	1152			Interaction with RAD51.			
RAD51AP2	0	broad.mit.edu	GRCh37	2	17698942	17698942	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-14-0789-01	TCGA-14-0789-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399080.2:c.741delA	p.Lys247AsnfsTer11	p.K247Nfs*11	ENST00000399080	NM_001099218.2	247	aaA/aa	0			1			-	K/X	uc002rcl.1	protein_coding	YES	CCDS42656.1			741/3480									ovary(1)	1	c.(739-741)AAAfs				RAD51 associated protein 2				ENSP00000382030		3-Jan										3-Jan	.		ENST00000399080	Transcript						ENSG00000214842	g.chr2:17698942delT	34417			HIGH								--	--	1																																		RAD51AP2_uc010exn.1_Frame_Shift_Del_p.K238fs		1			p.K247fs	NM_001099218	NP_001092688				R51A2_HUMAN	RAD51AP2	HGNC	Q09MP3	R51A2_HUMAN					1	765	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		UPI0000418FD4	247					deletion	RAD51AP2,frameshift_variant,p.Lys247AsnfsTer11,ENST00000399080,NM_001099218.2;	uc002rcl.1	c.741delA	765/3724	5	5			c.741delA						2	DEL	c.(739-741)AAAfs	8	8			ovary(1)	1	Broad	RAD51 associated protein 2			17698942		0.353	ENSG00000214842	12777	g.chr2:17698942delT																							0.26	1	1	0	1	0	0	0	0	0	--	--		0	-			RAD51AP2_uc010exn.1_Frame_Shift_Del_p.K238fs	136	GBM-14-0789-TP	p.K247fs	T	AATAGCTAGGTTTGGCAATTT	NM_001099218	NP_001092688	17698942	Q09MP3	R51A2_HUMAN	0			1	765	-	-	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		Frame_Shift_Del	247						
RAD51AP2	0	broad.mit.edu	GRCh37	2	17696534	17696534	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-27-1838-01	TCGA-27-1838-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399080.2:c.3149G>T	p.Trp1050Leu	p.W1050L	ENST00000399080	NM_001099218.2	1050	tGg/tTg	0			1			A	W/L	uc002rcl.1	protein_coding	YES	CCDS42656.1			3149/3480									ovary(1)	1	c.(3148-3150)TGG>TTG				RAD51 associated protein 2				ENSP00000382030		3-Jan									COSM3407073	3-Jan	.		ENST00000399080	Transcript						ENSG00000214842	g.chr2:17696534C>A	34417			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=R51A2_HUMAN&rb=1&re=1155&var=W1050L	NA	getma.org/?cm=var&var=hg19,2,17696534,C,A&fts=all	W1050L	--	--	1																																		RAD51AP2_uc010exn.1_Missense_Mutation_p.W1041L	1	1		probably_damaging(0.999)	p.W1050L	NM_001099218	NP_001092688		deleterious(0)	1	R51A2_HUMAN	RAD51AP2	HGNC	Q09MP3	R51A2_HUMAN					1	3173	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		UPI0000418FD4	1050					SNV	RAD51AP2,missense_variant,p.Trp1050Leu,ENST00000399080,NM_001099218.2;	uc002rcl.1	c.3149G>T	3173/3724	1	1			c.3149G>T						2	SNP	c.(3148-3150)TGG>TTG	54	54			ovary(1)	1	Broad	RAD51 associated protein 2			17696534		0.368	ENSG00000214842	12777	g.chr2:17696534C>A										177.215806	KEEP	32	33	0.507692308	30	28	32	33	0.507692308	177.217701	30	28	0.504587	1	0	0	0	0	1	0	0	0	--	--		0	A			RAD51AP2_uc010exn.1_Missense_Mutation_p.W1041L	197	GBM-27-1838-TP	p.W1050L	C	TACAGTTTTCCATTTAAATAA	NM_001099218	NP_001092688	17696534	Q09MP3	R51A2_HUMAN	0			1	3173	-	A	A	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		Missense_Mutation	1050						
RAD51C	0	broad.mit.edu	GRCh37	17	56772380	56772380	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-32-1982-01	TCGA-32-1982-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337432.4:c.234A>G	p.Thr78=	p.T78=	ENST00000337432	NM_058216.2	78	acA/acG	0			1			G	T	uc002iwu.2	protein_coding	YES	CCDS11611.1			234/1131										0	c.(232-234)ACA>ACG		Homologous_recombination	PIRSF_domain:PIRSF005856,hmmpanther:PTHR22942,hmmpanther:PTHR22942:SF14	RAD51 homolog C isoform 1				ENSP00000336701		9-Feb	8.24E-06					1.50E-05			rs730881929,COSM3196069,COSM3196068	9-Feb	.	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2	ENST00000337432	Transcript	1		blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	ENSG00000108384	g.chr17:56772380A>G	9820			LOW								--	--	1																																		TEX14_uc002iwr.1_5'Flank|TEX14_uc002iws.1_5'Flank|TEX14_uc010dcz.1_5'Flank|TEX14_uc010dda.1_5'Flank|TEX14_uc010wnz.1_5'Flank|RAD51C_uc002iwt.1_Silent_p.T78T|RAD51C_uc010woa.1_Silent_p.T78T|RAD51C_uc010ddc.2_RNA|RAD51C_uc002iwv.2_RNA|RAD51C_uc002iww.2_RNA|RAD51C_uc010wob.1_RNA	1,1,1	1			p.T78T	NM_058216	NP_478123			0,1,1	RA51C_HUMAN	RAD51C	HGNC	O43502	RA51C_HUMAN			Q7KZJ0_HUMAN,J3QR58_HUMAN		2	276	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		UPI0000133007	78					SNV	RAD51C,synonymous_variant,p.=,ENST00000337432,NM_058216.2;RAD51C,synonymous_variant,p.=,ENST00000583539,;RAD51C,synonymous_variant,p.=,ENST00000425173,;RAD51C,synonymous_variant,p.=,ENST00000421782,NM_002876.3;RAD51C,5_prime_UTR_variant,,ENST00000461271,;TEX14,upstream_gene_variant,,ENST00000389934,NM_198393.3,NM_001201457.1;TEX14,upstream_gene_variant,,ENST00000240361,;TEX14,upstream_gene_variant,,ENST00000349033,NM_031272.4;RAD51C,upstream_gene_variant,,ENST00000413590,;RAD51C,non_coding_transcript_exon_variant,,ENST00000487921,;RAD51C,downstream_gene_variant,,ENST00000476741,;RAD51C,synonymous_variant,p.=,ENST00000487525,;RAD51C,synonymous_variant,p.=,ENST00000482007,;RAD51C,3_prime_UTR_variant,,ENST00000475762,;RAD51C,3_prime_UTR_variant,,ENST00000486827,;RAD51C,intron_variant,,ENST00000584617,;TEX14,upstream_gene_variant,,ENST00000582740,;	uc002iwu.2	c.234A>G	305/1322	3	3			c.234A>G						17	SNP	c.(232-234)ACA>ACG	14	14				0	Broad	RAD51 homolog C isoform 1	Homologous_recombination		56772380	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2	0.398	ENSG00000108384	12778	g.chr17:56772380A>G	blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity							107.488652	KEEP	15	23	-1	48	56	15	23	-1	114.083926	48	56	0.271429	1	0	0	0	0	0	0	1	0	--	--		0	G			TEX14_uc002iwr.1_5'Flank|TEX14_uc002iws.1_5'Flank|TEX14_uc010dcz.1_5'Flank|TEX14_uc010dda.1_5'Flank|TEX14_uc010wnz.1_5'Flank|RAD51C_uc002iwt.1_Silent_p.T78T|RAD51C_uc010woa.1_Silent_p.T78T|RAD51C_uc010ddc.2_RNA|RAD51C_uc002iwv.2_RNA|RAD51C_uc002iww.2_RNA|RAD51C_uc010wob.1_RNA	232	GBM-32-1982-TP	p.T78T	A	ATGCTGGTACATCTGAGTCAC	NM_058216	NP_478123	56772380	O43502	RA51C_HUMAN	0			2	276	+	G	G	Medulloblastoma(34;0.127)|all_neural(34;0.237)		Silent	78						
RAD51C	5889		GRCh37	17	56809897	56809897	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000337432.4:c.1018C>G	p.Gln340Glu	p.Q340E	ENST00000337432	NM_058216.2	340	Caa/Gaa	0																																																																																																																																																																																																																																												
RAD54B	25788	broad.mit.edu	GRCh37	8	95412584	95412584	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01	TCGA-06-0174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336148.5:c.1052G>A	p.Gly351Asp	p.G351D	ENST00000336148	NM_012415.3	351	gGc/gAc	0			1			T	G/D	uc003ygk.2	protein_coding	YES	CCDS6262.1			1052/2733									kidney(2)|lung(1)|skin(1)	4	c.(1051-1053)GGC>GAC		Direct_reversal_of_damage|Homologous_recombination	Superfamily_domains:SSF52540,SMART_domains:SM00487,Pfam_domain:PF00176,Gene3D:3.40.50.300,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF568,PROSITE_profiles:PS51192	RAD54 homolog B				ENSP00000336606		15-Jul	4.94E-05	9.67E-05			0.000462	1.51E-05			rs777613400,COSM3748394	15-Jul	common_variant		ENST00000336148	Transcript			double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	ENSG00000197275	g.chr8:95412584C>T	17228			MODERATE		2.37	medium	getma.org/?cm=msa&ty=f&p=RA54B_HUMAN&rb=299&re=598&var=G351D	getma.org/pdb.php?prot=RA54B_HUMAN&from=299&to=598&var=G351D	getma.org/?cm=var&var=hg19,8,95412584,C,T&fts=all	G351D	--	--	1																																		RAD54B_uc010may.1_Missense_Mutation_p.G158D|RAD54B_uc003ygl.1_RNA	0,1	1		probably_damaging(0.982)	p.G351D	NM_012415	NP_036547		tolerated(0.06)	0,1	RA54B_HUMAN	RAD54B	HGNC	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		E5RHN9_HUMAN		7	1150	-	Breast(36;4.5e-05)		UPI0000070088	Error:Variant_position_missing_in_O95073_after_alignment					SNV	RAD54B,missense_variant,p.Gly351Asp,ENST00000336148,NM_012415.3;FSBP,3_prime_UTR_variant,,ENST00000517506,;RAD54B,3_prime_UTR_variant,,ENST00000463267,;RAD54B,upstream_gene_variant,,ENST00000523192,;	uc003ygk.2	c.1052G>A	1177/3068	1	1			c.1052G>A						8	SNP	c.(1051-1053)GGC>GAC	16	16			kidney(2)|lung(1)|skin(1)	4	Broad	RAD54 homolog B	Direct_reversal_of_damage|Homologous_recombination		95412584		0.433	ENSG00000197275	12782	g.chr8:95412584C>T	double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding							-14.275108	KEEP	5	9	-1	44	56	5	9	-1	7.117513	44	56	0.042105	1	0	0	0	0	1	0	0	0	--	--		0	T			RAD54B_uc010may.1_Missense_Mutation_p.G158D|RAD54B_uc003ygl.1_RNA	37	GBM-06-0174-TP	p.G351D	C	TACTGGCTTGCCTCCATAGGG	NM_012415	NP_036547	95412584	O95073	FSBP_HUMAN	0	BRCA - Breast invasive adenocarcinoma(8;0.00217)		7	1150	-	T	T	Breast(36;4.5e-05)		Missense_Mutation	Error:Variant_position_missing_in_O95073_after_alignment						
RAD54B	25788		GRCh37	8	95403893	95403893	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000336148.5:c.1753A>T	p.Ile585Leu	p.I585L	ENST00000336148	NM_012415.3	585	Ata/Tta	0																																																																																																																																																																																																																																												
RAD54L	0	broad.mit.edu	GRCh37	1	46726266	46726266	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149141765		TCGA-12-3653-01	TCGA-12-3653-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371975.4:c.460C>T	p.Arg154Trp	p.R154W	ENST00000371975	NM_003579.3	154	Cgg/Tgg	0	T:0.0005	T:0	1	T:0		T	R/W	uc009vye.2	protein_coding	YES	CCDS532.1			460/2244									ovary(2)|skin(1)	3	c.(460-462)CGG>TGG		Direct_reversal_of_damage|Homologous_recombination	hmmpanther:PTHR10799:SF208,hmmpanther:PTHR10799,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540	RAD54-like protein		T:0.001	T:0	ENSP00000361043	T:0	18-Jun	1.65E-05	9.61E-05		0.000116					rs149141765,COSM459127	18-Jun	.		ENST00000371975	Transcript		T:0.0002	meiosis	nucleus	ATP binding|DNA binding|helicase activity	ENSG00000085999	g.chr1:46726266C>T	9826			MODERATE		4.235	high	getma.org/?cm=msa&ty=f&p=RAD54_HUMAN&rb=109&re=185&var=R154W	getma.org/pdb.php?prot=RAD54_HUMAN&from=139&to=155&var=R154W	getma.org/?cm=var&var=hg19,1,46726266,C,T&fts=all	R154W	--	--	1																																		RAD54L_uc001cpl.2_Missense_Mutation_p.R154W|RAD54L_uc001cpm.1_5'UTR	0,1	1		probably_damaging(0.999)	p.R154W	NM_001142548	NP_001136020	T:0	deleterious(0)	0,1	RAD54_HUMAN	RAD54L	HGNC	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)			7	574	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	UPI0000378007	154					SNV	RAD54L,missense_variant,p.Arg154Trp,ENST00000371975,NM_003579.3;RAD54L,missense_variant,p.Arg154Trp,ENST00000442598,NM_001142548.1;RAD54L,missense_variant,p.Arg154Trp,ENST00000469835,;RAD54L,non_coding_transcript_exon_variant,,ENST00000493985,;RAD54L,non_coding_transcript_exon_variant,,ENST00000472889,;RAD54L,non_coding_transcript_exon_variant,,ENST00000493032,;RAD54L,intron_variant,,ENST00000463715,;RAD54L,intron_variant,,ENST00000487700,;LRRC41,downstream_gene_variant,,ENST00000496156,;RAD54L,upstream_gene_variant,,ENST00000473251,;RAD54L,upstream_gene_variant,,ENST00000476687,;	uc009vye.2	c.460C>T	1134/3108	1	1			c.460C>T						1	SNP	c.(460-462)CGG>TGG	15	15			ovary(2)|skin(1)	3	Broad	RAD54-like protein	Direct_reversal_of_damage|Homologous_recombination		46726266		0.537	ENSG00000085999	12783	g.chr1:46726266C>T	meiosis	nucleus	ATP binding|DNA binding|helicase activity							-39.866572	KEEP	1	3	-1	114	91	1	3	-1	7.149411	114	91	0.021739	1	0	0	0	0	1	0	0	0	--	--		0	T			RAD54L_uc001cpl.2_Missense_Mutation_p.R154W|RAD54L_uc001cpm.1_5'UTR	128	GBM-12-3653-TP	p.R154W	C	TAAGGTTTTGCGGCCTCATCA	NM_001142548	NP_001136020	46726266	Q92698	RAD54_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	7	574	+	T	T	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	Missense_Mutation	154						
RAD54L2	23132		GRCh37	3	51690054	51690054	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0151-01	TCGA-06-0151-01																				ENST00000409535.2:c.3094C>T	p.Pro1032Ser	p.P1032S	ENST00000409535	NM_015106.2	1032	Ccc/Tcc	0																																																																																																																																																																																																																																												
RAET1G	0	broad.mit.edu	GRCh37	6	150240886	150240886	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367360.2:c.152C>T	p.Ala51Val	p.A51V	ENST00000367360	NM_001001788.2	51	gCg/gTg	0			1			A	A/V	uc010kii.1	protein_coding	YES	CCDS43514.1			152/1005										0	c.(151-153)GCG>GTG			hmmpanther:PTHR16675:SF135,hmmpanther:PTHR16675,Gene3D:3.30.500.10,Pfam_domain:PF00129,Superfamily_domains:SSF54452	retinoic acid early transcript 1G precursor				ENSP00000356329		5-Feb	8.24E-06	9.61E-05							rs775839827,COSM3410657	5-Feb	.		ENST00000367360	Transcript			antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding	ENSG00000203722	g.chr6:150240886G>A	16795			MODERATE		-1.32	neutral	getma.org/?cm=msa&ty=f&p=RET1G_HUMAN&rb=29&re=205&var=A51V	getma.org/pdb.php?prot=RET1G_HUMAN&from=29&to=205&var=A51V	getma.org/?cm=var&var=hg19,6,150240886,G,A&fts=all	A51V	--	--	1																																		RAET1G_uc003qnm.2_RNA	0,1	1		benign(0.057)	p.A51V	NM_001001788	NP_001001788		tolerated(0.14)	0,1	RET1G_HUMAN	RAET1G	HGNC	Q6H3X3	RET1G_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)	J7HEM2_HUMAN		2	220	-		Ovarian(120;0.0907)	UPI00003B0CBD	51			MHC class I alpha-1 like.|Extracellular (Potential).		SNV	RAET1G,missense_variant,p.Ala51Val,ENST00000367360,NM_001001788.2;RAET1G,missense_variant,p.Ala51Val,ENST00000479265,;RP11-244K5.8,downstream_gene_variant,,ENST00000606915,;RAET1E-AS1,downstream_gene_variant,,ENST00000446954,;RAET1E-AS1,downstream_gene_variant,,ENST00000605899,;RAET1G,missense_variant,p.Ala51Val,ENST00000367361,;	uc010kii.1	c.152C>T	220/1107	1	1			c.152C>T						6	SNP	c.(151-153)GCG>GTG	55	55				0	Broad	retinoic acid early transcript 1G precursor			150240886		0.532	ENSG00000203722	12790	g.chr6:150240886G>A	antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding							-75.348906	KEEP	4	2	-1	224	223	4	2	-1	8.349234	224	223	0.018692	1	0	0	0	0	1	0	0	0	--	--		0	A			RAET1G_uc003qnm.2_RNA	249	GBM-32-5222-TP	p.A51V	G	GCCTTGAACCGCACACCACCG	NM_001001788	NP_001001788	150240886	Q6H3X3	RET1G_HUMAN	0	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)	2	220	-	A	A		Ovarian(120;0.0907)	Missense_Mutation	51			MHC class I alpha-1 like.|Extracellular (Potential).			
RAF1	5894	broad.mit.edu	GRCh37	3	12632402	12632402	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-5411-01	TCGA-06-5411-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251849.4:c.1265A>G	p.Gln422Arg	p.Q422R	ENST00000251849	NM_002880.3	422	cAg/cGg	0			1			C	Q/R	uc003bxf.3	protein_coding	YES	CCDS2612.1			1265/1947	T		SRGAP3		pilocytic astrocytoma		ESRP1/RAF1(4)|SRGAP3/RAF1(4)		central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14	c.(1264-1266)CAG>CGG			Gene3D:1.10.510.10,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF42,SMART_domains:SM00220,Superfamily_domains:SSF56112	v-raf-1 murine leukemia viral oncogene homolog	Sorafenib(DB00398)			ENSP00000251849		17-Dec									COSM3748212,COSM3748213	17-Dec	.	Noonan_syndrome	ENST00000251849	Transcript	1		activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	ENSG00000132155	g.chr3:12632402T>C	9829			MODERATE		0.405	neutral	getma.org/?cm=msa&ty=f&p=RAF1_HUMAN&rb=349&re=606&var=Q422R	getma.org/pdb.php?prot=RAF1_HUMAN&from=349&to=606&var=Q422R	getma.org/?cm=var&var=hg19,3,12632402,T,C&fts=all	Q422R	--	--	1																																		RAF1_uc011aut.1_Missense_Mutation_p.Q207R|RAF1_uc011auu.1_Missense_Mutation_p.Q340R	1,1	1		probably_damaging(1)	p.Q422R	NM_002880	NP_002871		deleterious(0)	1,1	RAF1_HUMAN	RAF1	HGNC	P04049	RAF1_HUMAN			L7RRS6_HUMAN		12	1680	-			UPI0000049CFC	422			Protein kinase.		SNV	RAF1,missense_variant,p.Gln422Arg,ENST00000251849,NM_002880.3;RAF1,missense_variant,p.Gln442Arg,ENST00000442415,;RAF1,missense_variant,p.Gln341Arg,ENST00000542177,;RAF1,missense_variant,p.Gln301Arg,ENST00000432427,;RAF1,missense_variant,p.Gln207Arg,ENST00000534997,;RAF1,3_prime_UTR_variant,,ENST00000423275,;RAF1,non_coding_transcript_exon_variant,,ENST00000494557,;RAF1,non_coding_transcript_exon_variant,,ENST00000465826,;RAF1,non_coding_transcript_exon_variant,,ENST00000475353,;RAF1,non_coding_transcript_exon_variant,,ENST00000460610,;RAF1,upstream_gene_variant,,ENST00000471449,;	uc003bxf.3	c.1265A>G	1705/3300	3	3			c.1265A>G	T		SRGAP3		pilocytic astrocytoma	3	SNP	c.(1264-1266)CAG>CGG	61	61	ESRP1/RAF1(4)|SRGAP3/RAF1(4)		central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14	Broad	v-raf-1 murine leukemia viral oncogene homolog		Sorafenib(DB00398)	12632402	Noonan_syndrome	0.448	ENSG00000132155	12792	g.chr3:12632402T>C	activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			178			178	-27.227784	KEEP	2	4	-1	60	100	2	4	-1	6.517644	60	100	0.028986	1	0	0	0	0	1	0	0	0	--	--		0	C			RAF1_uc011aut.1_Missense_Mutation_p.Q207R|RAF1_uc011auu.1_Missense_Mutation_p.Q340R	94	GBM-06-5411-TP	p.Q422R	T	CTCGCACCACTGGGTCACAAT	NM_002880	NP_002871	12632402	P04049	RAF1_HUMAN	0			12	1680	-	C	C			Missense_Mutation	422			Protein kinase.			
RAG1	5896	broad.mit.edu	GRCh37	11	36596452	36596452	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01	TCGA-06-0122-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299440.5:c.1598C>T	p.Thr533Ile	p.T533I	ENST00000299440	NM_000448.2	533	aCt/aTt	0			1			T	T/I	uc001mwu.3	protein_coding	YES	CCDS7902.1			1598/3132									ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	c.(1597-1599)ACT>ATT			Pfam_domain:PF12940,hmmpanther:PTHR11539,hmmpanther:PTHR11539:SF0	recombination activating gene 1				ENSP00000299440		2-Feb									COSM2149249	2-Feb	.	Familial_Hemophagocytic_Lymphohistiocytosis	ENST00000299440	Transcript	1		histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000166349	g.chr11:36596452C>T	9831			MODERATE		2.54	medium	getma.org/?cm=msa&ty=f&p=RAG1_HUMAN&rb=513&re=953&var=T533I	NA	getma.org/?cm=var&var=hg19,11,36596452,C,T&fts=all	T533I	--	--	1																																		RAG1_uc001mwt.2_RNA	1	1		probably_damaging(0.995)	p.T533I	NM_000448	NP_000439		deleterious_low_confidence(0.04)	1	RAG1_HUMAN	RAG1	HGNC	P15918	RAG1_HUMAN					2	1722	+	all_lung(20;0.226)	all_hematologic(20;0.107)	UPI000013E5A0	533					SNV	RAG1,missense_variant,p.Thr533Ile,ENST00000299440,NM_000448.2;RAG2,downstream_gene_variant,,ENST00000524423,;RAG1,missense_variant,p.Thr533Ile,ENST00000534663,;	uc001mwu.3	c.1598C>T	1710/6564	2	2			c.1598C>T						11	SNP	c.(1597-1599)ACT>ATT	45	45			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	Broad	recombination activating gene 1			36596452	Familial_Hemophagocytic_Lymphohistiocytosis	0.493	ENSG00000166349	12793	g.chr11:36596452C>T	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)		117	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)		117	107.666643	KEEP	27	12	-1	41	29	27	12	-1	109.840883	41	29	0.346154	1	0	0	0	0	1	0	0	0	--	--		0	T			RAG1_uc001mwt.2_RNA	10	GBM-06-0122-TP	p.T533I	C	TCTTCCAGCACTGATGTTGGC	NM_000448	NP_000439	36596452	P15918	RAG1_HUMAN	0			2	1722	+	T	T	all_lung(20;0.226)	all_hematologic(20;0.107)	Missense_Mutation	533						
RAG1	5896	broad.mit.edu	GRCh37	11	36596275	36596275	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0237-01	TCGA-06-0237-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299440.5:c.1421G>A	p.Arg474His	p.R474H	ENST00000299440	NM_000448.2	474	cGt/cAt	0			1			A	R/H	uc001mwu.3	protein_coding	YES	CCDS7902.1			1421/3132						not_provided			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	c.(1420-1422)CGT>CAT			hmmpanther:PTHR11539,hmmpanther:PTHR11539:SF0	recombination activating gene 1				ENSP00000299440		2-Feb	6.59E-05		0.000173			3.00E-05		0.000242	rs199474686,RAG1base_HSRAG1:g.1533G>A,RAG1base_RAG1_DNA:g.7713G>A,COSM3397657	2-Feb	.	Familial_Hemophagocytic_Lymphohistiocytosis	ENST00000299440	Transcript	1		histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000166349	g.chr11:36596275G>A	9831			MODERATE		2.555	medium	getma.org/?cm=msa&ty=f&p=RAG1_HUMAN&rb=384&re=512&var=R474H	NA	getma.org/?cm=var&var=hg19,11,36596275,G,A&fts=all	R474H	--	--	1																																		RAG1_uc001mwt.2_RNA	1,0,0,1	1	11133745	probably_damaging(0.976)	p.R474H	NM_000448	NP_000439		deleterious_low_confidence(0)	0,0,0,1	RAG1_HUMAN	RAG1	HGNC	P15918	RAG1_HUMAN					2	1545	+	all_lung(20;0.226)	all_hematologic(20;0.107)	UPI000013E5A0	474		R -> H (in OS/T(-)B(-)NK(+) SCID; atypical).			SNV	RAG1,missense_variant,p.Arg474His,ENST00000299440,NM_000448.2;RAG2,downstream_gene_variant,,ENST00000524423,;RAG1,missense_variant,p.Arg474His,ENST00000534663,;	uc001mwu.3	c.1421G>A	1533/6564	1	1			c.1421G>A						11	SNP	c.(1420-1422)CGT>CAT	64	64			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	Broad	recombination activating gene 1			36596275	Familial_Hemophagocytic_Lymphohistiocytosis	0.557	ENSG00000166349	12793	g.chr11:36596275G>A	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)		117	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)		117	132.515789	KEEP	28	30	-1	52	53	28	30	-1	135.538732	52	53	0.340741	1	0	0	0	0	1	0	0	0	--	--		0	A			RAG1_uc001mwt.2_RNA	54	GBM-06-0237-TP	p.R474H	G	TTGGCCATCCGTGTCAACACC	NM_000448	NP_000439	36596275	P15918	RAG1_HUMAN	0			2	1545	+	A	A	all_lung(20;0.226)	all_hematologic(20;0.107)	Missense_Mutation	474		R -> H (in OS/T(-)B(-)NK(+) SCID; atypical).				
RAG1	5896	broad.mit.edu	GRCh37	11	36596029	36596029	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-2569-01	TCGA-06-2569-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299440.5:c.1175G>T	p.Gly392Val	p.G392V	ENST00000299440	NM_000448.2	392	gGg/gTg	0			1			T	G/V	uc001mwu.3	protein_coding	YES	CCDS7902.1			1175/3132									ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	c.(1174-1176)GGG>GTG			PROSITE_profiles:PS51487,hmmpanther:PTHR11539,hmmpanther:PTHR11539:SF0	recombination activating gene 1				ENSP00000299440		2-Feb									COSM3397656	2-Feb	.	Familial_Hemophagocytic_Lymphohistiocytosis	ENST00000299440	Transcript	1		histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000166349	g.chr11:36596029G>T	9831			MODERATE		2.535	medium	getma.org/?cm=msa&ty=f&p=RAG1_HUMAN&rb=384&re=512&var=G392V	getma.org/pdb.php?prot=RAG1_HUMAN&from=384&to=512&var=G392V	getma.org/?cm=var&var=hg19,11,36596029,G,T&fts=all	G392V	--	--	1																																		RAG1_uc001mwt.2_RNA	1	1		probably_damaging(0.996)	p.G392V	NM_000448	NP_000439		deleterious_low_confidence(0)	1	RAG1_HUMAN	RAG1	HGNC	P15918	RAG1_HUMAN					2	1299	+	all_lung(20;0.226)	all_hematologic(20;0.107)	UPI000013E5A0	392			NBD.		SNV	RAG1,missense_variant,p.Gly392Val,ENST00000299440,NM_000448.2;RAG2,downstream_gene_variant,,ENST00000524423,;RAG1,missense_variant,p.Gly392Val,ENST00000534663,;	uc001mwu.3	c.1175G>T	1287/6564	2	2			c.1175G>T						11	SNP	c.(1174-1176)GGG>GTG	43	43			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	Broad	recombination activating gene 1			36596029	Familial_Hemophagocytic_Lymphohistiocytosis	0.478	ENSG00000166349	12793	g.chr11:36596029G>T	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)		117	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)		117	133.711366	KEEP	21	28	0.428571429	31	36	21	28	0.428571429	133.961793	31	36	0.447619	1	0	0	0	0	1	0	0	0	--	--		0	T			RAG1_uc001mwt.2_RNA	90	GBM-06-2569-TP	p.G392V	G	ATTAATAAAGGGGGCCGGCCC	NM_000448	NP_000439	36596029	P15918	RAG1_HUMAN	0			2	1299	+	T	T	all_lung(20;0.226)	all_hematologic(20;0.107)	Missense_Mutation	392			NBD.			
RAG1	0	broad.mit.edu	GRCh37	11	36597064	36597064	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs104894286		TCGA-19-4068-01	TCGA-19-4068-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299440.5:c.2210G>A	p.Arg737His	p.R737H	ENST00000299440	NM_000448.2	737	cGt/cAt	0		A:0.0008,A:0.0008,A:0.0008	1	A:0,A:0,A:0		A	R/H	uc001mwu.3	protein_coding	YES	CCDS7902.1			2210/3132						pathogenic			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	c.(2209-2211)CGT>CAT			Pfam_domain:PF12940,hmmpanther:PTHR11539,hmmpanther:PTHR11539:SF0	recombination activating gene 1		A:0,A:0,A:0		ENSP00000299440	A:0,A:0,A:0	2-Feb	2.47E-05	9.61E-05				3.00E-05			rs104894286,RAG1base_RAG1_DNA:g.8502G>A,RAG1base_HSRAG1:g.2322G>A,COSM1470480	2-Feb	.	Familial_Hemophagocytic_Lymphohistiocytosis	ENST00000299440	Transcript	1	A:0.0002	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000166349	g.chr11:36597064G>A	9831			MODERATE		3.81	high	getma.org/?cm=msa&ty=f&p=RAG1_HUMAN&rb=513&re=953&var=R737H	NA	getma.org/?cm=var&var=hg19,11,36597064,G,A&fts=all	R737H	--	--	1																																		RAG1_uc001mwt.2_RNA	1,0,0,1	1		probably_damaging(0.994)	p.R737H	NM_000448	NP_000439	A:0,A:0,A:0	deleterious_low_confidence(0)	0,0,0,1	RAG1_HUMAN	RAG1	HGNC	P15918	RAG1_HUMAN					2	2334	+	all_lung(20;0.226)	all_hematologic(20;0.107)	UPI000013E5A0	737		R -> H (in OS and CHIDG; reduced recombination activity when associated with T-507).			SNV	RAG1,missense_variant,p.Arg737His,ENST00000299440,NM_000448.2;RAG2,downstream_gene_variant,,ENST00000524423,;RAG1,missense_variant,p.Arg737His,ENST00000534663,;	uc001mwu.3	c.2210G>A	2322/6564	2	2			c.2210G>A						11	SNP	c.(2209-2211)CGT>CAT	24	24			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	Broad	recombination activating gene 1			36597064	Familial_Hemophagocytic_Lymphohistiocytosis	0.502	ENSG00000166349	12793	g.chr11:36597064G>A	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)		117	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)		117	177.610171	KEEP	30	40	-1	45	48	30	40	-1	178.204781	45	48	0.431507	1	0	0	0	0	1	0	0	0	--	--		0	A			RAG1_uc001mwt.2_RNA	168	GBM-19-4068-TP	p.R737H	G	GATGCCACCCGTCTGGAAGCC	NM_000448	NP_000439	36597064	P15918	RAG1_HUMAN	0			2	2334	+	A	A	all_lung(20;0.226)	all_hematologic(20;0.107)	Missense_Mutation	737		R -> H (in OS and CHIDG; reduced recombination activity when associated with T-507).				
RAG1	0	broad.mit.edu	GRCh37	11	36596877	36596877	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-1830-01	TCGA-27-1830-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299440.5:c.2023C>T	p.Leu675=	p.L675=	ENST00000299440	NM_000448.2	675	Ctg/Ttg	0			1			T	L	uc001mwu.3	protein_coding	YES	CCDS7902.1			2023/3132									ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	c.(2023-2025)CTG>TTG			Pfam_domain:PF12940,hmmpanther:PTHR11539,hmmpanther:PTHR11539:SF0	recombination activating gene 1				ENSP00000299440		2-Feb									COSM3397658	2-Feb	.	Familial_Hemophagocytic_Lymphohistiocytosis	ENST00000299440	Transcript	1		histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000166349	g.chr11:36596877C>T	9831			LOW								--	--	1																																		RAG1_uc001mwt.2_RNA	1	1			p.L675L	NM_000448	NP_000439			1	RAG1_HUMAN	RAG1	HGNC	P15918	RAG1_HUMAN					2	2147	+	all_lung(20;0.226)	all_hematologic(20;0.107)	UPI000013E5A0	675					SNV	RAG1,synonymous_variant,p.=,ENST00000299440,NM_000448.2;RAG2,downstream_gene_variant,,ENST00000524423,;RAG1,synonymous_variant,p.=,ENST00000534663,;	uc001mwu.3	c.2023C>T	2135/6564	2	2			c.2023C>T						11	SNP	c.(2023-2025)CTG>TTG	18	18			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	Broad	recombination activating gene 1			36596877	Familial_Hemophagocytic_Lymphohistiocytosis	0.498	ENSG00000166349	12793	g.chr11:36596877C>T	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)		117	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)		117	-13.050466	KEEP	3	0	-1	48	38	3	0	-1	6.329896	48	38	0.036145	1	0	0	0	0	0	0	1	0	--	--		0	T			RAG1_uc001mwt.2_RNA	189	GBM-27-1830-TP	p.L675L	C	GACTGCCATCCTGAGTCCTCT	NM_000448	NP_000439	36596877	P15918	RAG1_HUMAN	0			2	2147	+	T	T	all_lung(20;0.226)	all_hematologic(20;0.107)	Silent	675						
RAG2	5897	broad.mit.edu	GRCh37	11	36614899	36614899	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0126-01	TCGA-06-0126-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311485.3:c.820G>T	p.Val274Phe	p.V274F	ENST00000311485	NM_000536.3	274	Gtt/Ttt	0			1			A	V/F	uc001mwv.3	protein_coding	YES	CCDS7903.1			820/1584									skin(3)|ovary(1)|pancreas(1)	5	c.(820-822)GTT>TTT			Superfamily_domains:0047741,Pfam_domain:PF03089,hmmpanther:PTHR10960,hmmpanther:PTHR10960:SF0	recombination activating gene 2				ENSP00000308620		2-Feb									COSM2149450	2-Feb	.	Familial_Hemophagocytic_Lymphohistiocytosis	ENST00000311485	Transcript	1		chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	ENSG00000175097	g.chr11:36614899C>A	9832			MODERATE		3.105	medium	getma.org/?cm=msa&ty=f&p=RAG2_HUMAN&rb=51&re=389&var=V274F	NA	getma.org/?cm=var&var=hg19,11,36614899,C,A&fts=all	V274F	--	--	1																																		C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank	1	1		probably_damaging(0.985)	p.V274F	NM_000536	NP_000527		deleterious(0.04)	1	RAG2_HUMAN	RAG2	HGNC	P55895	RAG2_HUMAN			Q9BYY1_HUMAN,Q71UK1_HUMAN,E9PQB9_HUMAN,E9PPU5_HUMAN		2	1008	-	all_lung(20;0.226)	all_hematologic(20;0.00756)	UPI00001330E9	274					SNV	RAG2,missense_variant,p.Val274Phe,ENST00000311485,NM_000536.3,NM_001243786.1,NM_001243785.1;C11orf74,upstream_gene_variant,,ENST00000532470,;C11orf74,upstream_gene_variant,,ENST00000446510,;C11orf74,upstream_gene_variant,,ENST00000334307,NM_001276722.1,NM_138787.3,NM_001276723.1;C11orf74,upstream_gene_variant,,ENST00000534635,NM_001276725.1;C11orf74,upstream_gene_variant,,ENST00000531554,;C11orf74,upstream_gene_variant,,ENST00000347206,NM_001276727.1,NM_001276726.1;C11orf74,upstream_gene_variant,,ENST00000530697,;RAG2,downstream_gene_variant,,ENST00000529083,;RAG2,downstream_gene_variant,,ENST00000527033,;RAG2,downstream_gene_variant,,ENST00000532616,;C11orf74,upstream_gene_variant,,ENST00000527108,;RAG2,intron_variant,,ENST00000524423,;RAG2,downstream_gene_variant,,ENST00000528428,;RAG2,downstream_gene_variant,,ENST00000534379,;RAG2,downstream_gene_variant,,ENST00000530276,;RAG1,downstream_gene_variant,,ENST00000534663,;C11orf74,upstream_gene_variant,,ENST00000528092,;C11orf74,upstream_gene_variant,,ENST00000524539,;	uc001mwv.3	c.820G>T	982/2388	1	1			c.820G>T						11	SNP	c.(820-822)GTT>TTT	64	64			skin(3)|ovary(1)|pancreas(1)	5	Broad	recombination activating gene 2			36614899	Familial_Hemophagocytic_Lymphohistiocytosis	0.428	ENSG00000175097	12795	g.chr11:36614899C>A	chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding							156.760232	KEEP	26	27	0.509433962	50	44	26	27	0.509433962	158.506123	50	44	0.379562	1	0	0	0	0	1	0	0	0	--	--		0	A			C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank	13	GBM-06-0126-TP	p.V274F	C	TAGCCACCAACAATAACAAAT	NM_000536	NP_000527	36614899	P55895	RAG2_HUMAN	0			2	1008	-	A	A	all_lung(20;0.226)	all_hematologic(20;0.00756)	Missense_Mutation	274						
RAG2	5897	broad.mit.edu	GRCh37	11	36614338	36614338	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-5408-01	TCGA-06-5408-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311485.3:c.1381C>A	p.Leu461Met	p.L461M	ENST00000311485	NM_000536.3	461	Ctg/Atg	0			1			T	L/M	uc001mwv.3	protein_coding	YES	CCDS7903.1			1381/1584									skin(3)|ovary(1)|pancreas(1)	5	c.(1381-1383)CTG>ATG			Pfam_domain:PF13341,hmmpanther:PTHR10960,hmmpanther:PTHR10960:SF0,Superfamily_domains:SSF57903	recombination activating gene 2				ENSP00000308620		2-Feb									COSM3397660	2-Feb	.	Familial_Hemophagocytic_Lymphohistiocytosis	ENST00000311485	Transcript	1		chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	ENSG00000175097	g.chr11:36614338G>T	9832			MODERATE		2.455	medium	getma.org/?cm=msa&ty=f&p=RAG2_HUMAN&rb=414&re=491&var=L461M	getma.org/pdb.php?prot=RAG2_HUMAN&from=414&to=491&var=L461M	getma.org/?cm=var&var=hg19,11,36614338,G,T&fts=all	L461M	--	--	1																																		RAG1_uc001mwt.2_Intron|C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank	1	1		probably_damaging(0.998)	p.L461M	NM_000536	NP_000527		deleterious(0)	1	RAG2_HUMAN	RAG2	HGNC	P55895	RAG2_HUMAN			Q9BYY1_HUMAN,Q71UK1_HUMAN,E9PQB9_HUMAN,E9PPU5_HUMAN		2	1569	-	all_lung(20;0.226)	all_hematologic(20;0.00756)	UPI00001330E9	461			PHD-type; atypical.		SNV	RAG2,missense_variant,p.Leu461Met,ENST00000311485,NM_000536.3,NM_001243786.1,NM_001243785.1;C11orf74,upstream_gene_variant,,ENST00000532470,;C11orf74,upstream_gene_variant,,ENST00000446510,;C11orf74,upstream_gene_variant,,ENST00000334307,NM_001276722.1,NM_138787.3,NM_001276723.1;C11orf74,upstream_gene_variant,,ENST00000534635,NM_001276725.1;C11orf74,upstream_gene_variant,,ENST00000531554,;C11orf74,upstream_gene_variant,,ENST00000347206,NM_001276727.1,NM_001276726.1;C11orf74,upstream_gene_variant,,ENST00000530697,;RAG2,downstream_gene_variant,,ENST00000529083,;RAG2,downstream_gene_variant,,ENST00000527033,;RAG2,downstream_gene_variant,,ENST00000532616,;C11orf74,upstream_gene_variant,,ENST00000527108,;RAG2,intron_variant,,ENST00000524423,;RAG2,downstream_gene_variant,,ENST00000528428,;RAG2,downstream_gene_variant,,ENST00000534379,;RAG2,downstream_gene_variant,,ENST00000530276,;RAG1,intron_variant,,ENST00000534663,;C11orf74,upstream_gene_variant,,ENST00000528092,;C11orf74,upstream_gene_variant,,ENST00000524539,;	uc001mwv.3	c.1381C>A	1543/2388	2	2			c.1381C>A						11	SNP	c.(1381-1383)CTG>ATG	24	24			skin(3)|ovary(1)|pancreas(1)	5	Broad	recombination activating gene 2			36614338	Familial_Hemophagocytic_Lymphohistiocytosis	0.498	ENSG00000175097	12795	g.chr11:36614338G>T	chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding							127.540032	KEEP	17	30	0.361702128	38	43	17	30	0.361702128	129.385557	38	43	0.368852	1	0	0	0	0	1	0	0	0	--	--		0	T			RAG1_uc001mwt.2_Intron|C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank	92	GBM-06-5408-TP	p.L461M	G	CGTTCTGCCAGATCCATGCAC	NM_000536	NP_000527	36614338	P55895	RAG2_HUMAN	0			2	1569	-	T	T	all_lung(20;0.226)	all_hematologic(20;0.00756)	Missense_Mutation	461			PHD-type; atypical.			
RAG2	0	broad.mit.edu	GRCh37	11	36615451	36615451	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs149769148		TCGA-19-5947-01	TCGA-19-5947-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311485.3:c.268C>G	p.Gln90Glu	p.Q90E	ENST00000311485	NM_000536.3	90	Caa/Gaa	0	C:0		1			C	Q/E	uc001mwv.3	protein_coding	YES	CCDS7903.1			268/1584									skin(3)|ovary(1)|pancreas(1)	5	c.(268-270)CAA>GAA			Superfamily_domains:0047741,Gene3D:1zgkA00,Pfam_domain:PF03089,hmmpanther:PTHR10960,hmmpanther:PTHR10960:SF0	recombination activating gene 2			C:0.0001	ENSP00000308620		2-Feb									rs149769148,COSM3397661	2-Feb	.	Familial_Hemophagocytic_Lymphohistiocytosis	ENST00000311485	Transcript	1		chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	ENSG00000175097	g.chr11:36615451G>C	9832			MODERATE		3.285	medium	getma.org/?cm=msa&ty=f&p=RAG2_HUMAN&rb=51&re=389&var=Q90E	NA	getma.org/?cm=var&var=hg19,11,36615451,G,C&fts=all	Q90E	--	--	1																																		C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank	0,1	1		benign(0.001)	p.Q90E	NM_000536	NP_000527		tolerated(0.17)	0,1	RAG2_HUMAN	RAG2	HGNC	P55895	RAG2_HUMAN			Q9BYY1_HUMAN,Q71UK1_HUMAN,E9PQB9_HUMAN,E9PPU5_HUMAN		2	456	-	all_lung(20;0.226)	all_hematologic(20;0.00756)	UPI00001330E9	90					SNV	RAG2,missense_variant,p.Gln90Glu,ENST00000311485,NM_000536.3,NM_001243786.1,NM_001243785.1;RAG2,missense_variant,p.Gln90Glu,ENST00000529083,;C11orf74,upstream_gene_variant,,ENST00000532470,;C11orf74,upstream_gene_variant,,ENST00000446510,;C11orf74,upstream_gene_variant,,ENST00000334307,NM_001276722.1,NM_138787.3,NM_001276723.1;C11orf74,upstream_gene_variant,,ENST00000534635,NM_001276725.1;C11orf74,upstream_gene_variant,,ENST00000531554,;C11orf74,upstream_gene_variant,,ENST00000347206,NM_001276727.1,NM_001276726.1;C11orf74,upstream_gene_variant,,ENST00000530697,;RAG2,downstream_gene_variant,,ENST00000527033,;RAG2,downstream_gene_variant,,ENST00000532616,;C11orf74,upstream_gene_variant,,ENST00000527108,;RAG2,intron_variant,,ENST00000524423,;RAG2,downstream_gene_variant,,ENST00000528428,;RAG2,downstream_gene_variant,,ENST00000534379,;RAG2,downstream_gene_variant,,ENST00000530276,;RAG1,downstream_gene_variant,,ENST00000534663,;C11orf74,upstream_gene_variant,,ENST00000528092,;C11orf74,upstream_gene_variant,,ENST00000524539,;	uc001mwv.3	c.268C>G	430/2388	3	3			c.268C>G						11	SNP	c.(268-270)CAA>GAA	7	7			skin(3)|ovary(1)|pancreas(1)	5	Broad	recombination activating gene 2			36615451	Familial_Hemophagocytic_Lymphohistiocytosis	0.413	ENSG00000175097	12795	g.chr11:36615451G>C	chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding							83.363349	KEEP	20	12	-1	66	70	20	12	-1	96.122402	66	70	0.198675	1	0	0	0	0	1	0	0	0	--	--		0	C			C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank	169	GBM-19-5947-TP	p.Q90E	G	ATGATGTATTGATGCTTTTCA	NM_000536	NP_000527	36615451	P55895	RAG2_HUMAN	0			2	456	-	C	C	all_lung(20;0.226)	all_hematologic(20;0.00756)	Missense_Mutation	90						
RAI1	0	broad.mit.edu	GRCh37	17	17697820	17697820	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs147708297		TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000353383.1:c.1558G>A	p.Gly520Ser	p.G520S	ENST00000353383	NM_030665.3	520	Ggc/Agc	0	A:0.0005	A:0.0008	1	A:0		A	G/S	uc002grm.2	protein_coding	YES	CCDS11188.1			1558/5721									central_nervous_system(1)|skin(1)	2	c.(1558-1560)GGC>AGC			hmmpanther:PTHR14955,hmmpanther:PTHR14955:SF6	retinoic acid induced 1		A:0	A:0	ENSP00000323074	A:0	6-Mar	4.12E-05	0.000105		0.000125		1.64E-05		0.000123	rs147708297,COSM3402638,COSM3402639	6-Mar	.		ENST00000353383	Transcript	1	A:0.0002		cytoplasm|nucleus	zinc ion binding	ENSG00000108557	g.chr17:17697820G>A	9834			MODERATE		0.96	low	getma.org/?cm=msa&ty=f&p=RAI1_HUMAN&rb=1&re=1189&var=G520S	NA	getma.org/?cm=var&var=hg19,17,17697820,G,A&fts=all	G520S	--	--	1																																		RAI1_uc002grn.1_Missense_Mutation_p.G520S	0,1,1	1		probably_damaging(0.991)	p.G520S	NM_030665	NP_109590	A:0	tolerated(0.3)	0,1,1	RAI1_HUMAN	RAI1	HGNC	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	J3QLL5_HUMAN,A8MXE8_HUMAN		3	2027	+			UPI0000200AAF	520					SNV	RAI1,missense_variant,p.Gly520Ser,ENST00000353383,NM_030665.3;RAI1,missense_variant,p.Gly520Ser,ENST00000261641,;RAI1,missense_variant,p.Gly520Ser,ENST00000395774,;RAI1,downstream_gene_variant,,ENST00000471135,;RAI1,upstream_gene_variant,,ENST00000583166,;	uc002grm.2	c.1558G>A	2027/7662	2	2			c.1558G>A						17	SNP	c.(1558-1560)GGC>AGC	36	36			central_nervous_system(1)|skin(1)	2	Broad	retinoic acid induced 1			17697820		0.687	ENSG00000108557	12797	g.chr17:17697820G>A		cytoplasm|nucleus	zinc ion binding							35.724242	KEEP	7	4	-1	6	9	7	4	-1	35.733669	6	9	0.478261	1	0	0	0	0	1	0	0	0	--	--		0	A			RAI1_uc002grn.1_Missense_Mutation_p.G520S	235	GBM-32-2491-TP	p.G520S	G	CTACCTGAGCGGCTCCGAGGA	NM_030665	NP_109590	17697820	Q7Z5J4	RAI1_HUMAN	0		READ - Rectum adenocarcinoma(1115;0.0276)	3	2027	+	A	A			Missense_Mutation	520						
RAI1	0	broad.mit.edu	GRCh37	17	17697187	17697187	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-3915-01	TCGA-41-3915-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000353383.1:c.925G>A	p.Ala309Thr	p.A309T	ENST00000353383	NM_030665.3	309	Gcc/Acc	0		A:0	1	A:0		A	A/T	uc002grm.2	protein_coding	YES	CCDS11188.1			925/5721									central_nervous_system(1)|skin(1)	2	c.(925-927)GCC>ACC			hmmpanther:PTHR14955,hmmpanther:PTHR14955:SF6	retinoic acid induced 1		A:0		ENSP00000323074	A:0	6-Mar	1.65E-05							0.000122	rs542056789,COSM3402636,COSM3402637	6-Mar	.		ENST00000353383	Transcript	1	A:0.0004		cytoplasm|nucleus	zinc ion binding	ENSG00000108557	g.chr17:17697187G>A	9834			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=RAI1_HUMAN&rb=1&re=1189&var=A309T	NA	getma.org/?cm=var&var=hg19,17,17697187,G,A&fts=all	A309T	--	--	1																																		RAI1_uc002grn.1_Missense_Mutation_p.A309T	0,1,1	1		benign(0.022)	p.A309T	NM_030665	NP_109590	A:0.002	tolerated(0.32)	0,1,1	RAI1_HUMAN	RAI1	HGNC	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	J3QLL5_HUMAN,A8MXE8_HUMAN		3	1394	+			UPI0000200AAF	309			Gln-rich.		SNV	RAI1,missense_variant,p.Ala309Thr,ENST00000353383,NM_030665.3;RAI1,missense_variant,p.Ala309Thr,ENST00000261641,;RAI1,missense_variant,p.Ala309Thr,ENST00000395774,;RAI1,downstream_gene_variant,,ENST00000471135,;RAI1,upstream_gene_variant,,ENST00000583166,;	uc002grm.2	c.925G>A	1394/7662	2	2			c.925G>A						17	SNP	c.(925-927)GCC>ACC	20	20			central_nervous_system(1)|skin(1)	2	Broad	retinoic acid induced 1			17697187		0.493	ENSG00000108557	12797	g.chr17:17697187G>A		cytoplasm|nucleus	zinc ion binding							-29.02919	KEEP	4	4	-1	108	90	4	4	-1	12.590323	108	90	0.038674	1	0	0	0	0	1	0	0	0	--	--		0	A			RAI1_uc002grn.1_Missense_Mutation_p.A309T	256	GBM-41-3915-TP	p.A309T	G	CCAAAACCTCGCCAAGTATCA	NM_030665	NP_109590	17697187	Q7Z5J4	RAI1_HUMAN	0		READ - Rectum adenocarcinoma(1115;0.0276)	3	1394	+	A	A			Missense_Mutation	309			Gln-rich.			
RAI14	0	broad.mit.edu	GRCh37	5	34811182	34811182	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-27-2528-01	TCGA-27-2528-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265109.3:c.517delG	p.Asp173IlefsTer32	p.D173Ifs*32	ENST00000265109	NM_015577.2	172	ctG/ct	0			1			-	L/X	uc003jir.2	protein_coding		CCDS34142.1			516/2943									ovary(1)	1	c.(514-516)CTGfs			Gene3D:1.25.40.20,Pfam_domain:PF12796,Prints_domain:PR01415,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24129,SMART_domains:SM00248,Superfamily_domains:SSF48403	retinoic acid induced 14 isoform a				ENSP00000265109		18-Aug										18-Aug	.		ENST00000265109	Transcript				cell cortex|cytoskeleton	protein binding	ENSG00000039560	g.chr5:34811182delG	14873	1		HIGH								--	--	1																																		RAI14_uc010iur.2_Frame_Shift_Del_p.L172fs|RAI14_uc011coj.1_Frame_Shift_Del_p.L172fs|RAI14_uc010ius.1_Frame_Shift_Del_p.L101fs|RAI14_uc003jis.2_Frame_Shift_Del_p.L175fs|RAI14_uc003jit.2_Frame_Shift_Del_p.L172fs|RAI14_uc011cok.1_Frame_Shift_Del_p.L164fs					p.L172fs	NM_015577	NP_056392				RAI14_HUMAN	RAI14	HGNC	Q9P0K7	RAI14_HUMAN			D6RF74_HUMAN,D6REL2_HUMAN,D6RE17_HUMAN,D6RBY4_HUMAN,D6RB27_HUMAN,D6RB25_HUMAN,D6R9G6_HUMAN,D6R9G4_HUMAN,B3KMZ9_HUMAN		8	712	+	all_lung(31;0.000191)		UPI000013F319	172			ANK 5.		deletion	RAI14,frameshift_variant,p.Asp173IlefsTer32,ENST00000265109,NM_015577.2,NM_001145522.1;RAI14,frameshift_variant,p.Asp173IlefsTer32,ENST00000428746,NM_001145520.1;RAI14,frameshift_variant,p.Asp166IlefsTer32,ENST00000397449,;RAI14,frameshift_variant,p.Asp176IlefsTer32,ENST00000515799,NM_001145525.1;RAI14,frameshift_variant,p.Asp173IlefsTer32,ENST00000503673,NM_001145521.1;RAI14,frameshift_variant,p.Asp165IlefsTer32,ENST00000506376,NM_001145523.1;RAI14,frameshift_variant,p.Asp173IlefsTer32,ENST00000512629,;RAI14,downstream_gene_variant,,ENST00000514527,;RAI14,downstream_gene_variant,,ENST00000504052,;RAI14,downstream_gene_variant,,ENST00000508315,;RAI14,downstream_gene_variant,,ENST00000512625,;RAI14,downstream_gene_variant,,ENST00000513974,;RAI14,downstream_gene_variant,,ENST00000514873,;RAI14,downstream_gene_variant,,ENST00000507276,;RAI14,downstream_gene_variant,,ENST00000509247,;RAI14,downstream_gene_variant,,ENST00000502736,;RAI14,3_prime_UTR_variant,,ENST00000508777,;RAI14,downstream_gene_variant,,ENST00000503222,;RAI14,downstream_gene_variant,,ENST00000510319,;	uc003jir.2	c.516delG	803/5092	5	5			c.516delG						5	DEL	c.(514-516)CTGfs	12	12			ovary(1)	1	Broad	retinoic acid induced 14 isoform a			34811182		0.418	ENSG00000039560	12798	g.chr5:34811182delG		cell cortex|cytoskeleton	protein binding																				0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			RAI14_uc010iur.2_Frame_Shift_Del_p.L172fs|RAI14_uc011coj.1_Frame_Shift_Del_p.L172fs|RAI14_uc010ius.1_Frame_Shift_Del_p.L101fs|RAI14_uc003jis.2_Frame_Shift_Del_p.L175fs|RAI14_uc003jit.2_Frame_Shift_Del_p.L172fs|RAI14_uc011cok.1_Frame_Shift_Del_p.L164fs	205	GBM-27-2528-TP	p.L172fs	G	ACTTTCTCCTGGATCATGGAG	NM_015577	NP_056392	34811182	Q9P0K7	RAI14_HUMAN	0			8	712	+	-	-	all_lung(31;0.000191)		Frame_Shift_Del	172			ANK 5.			
RAI2	10742		GRCh37	X	17819726	17819726	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000545871.1:c.405C>T	p.Asn135=	p.N135=	ENST00000545871	NM_001172739.1	135	aaC/aaT	0																																																																																																																																																																																																																																												
RALBP1	0	broad.mit.edu	GRCh37	18	9516893	9516893	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-12-0688-01	TCGA-12-0688-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000019317.4:c.295A>G	p.Ser99Gly	p.S99G	ENST00000019317		99	Agt/Ggt	0			1			G	S/G	uc002kob.2	protein_coding	YES	CCDS11845.1			295/1968									central_nervous_system(1)	1	c.(295-297)AGT>GGT			hmmpanther:PTHR12783	ralA binding protein 1				ENSP00000019317		10-Mar									COSM2153948	10-Mar	.		ENST00000019317	Transcript			chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding	ENSG00000017797	g.chr18:9516893A>G	9841			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=RBP1_HUMAN&rb=1&re=200&var=S99G	NA	getma.org/?cm=var&var=hg19,18,9516893,A,G&fts=all	S99G	--	--	1																																		RALBP1_uc002koc.2_Missense_Mutation_p.S99G	1	1		benign(0.314)	p.S99G	NM_006788	NP_006779		deleterious(0.01)	1	RBP1_HUMAN	RALBP1	HGNC	Q15311	RBP1_HUMAN			Q59E87_HUMAN,J3QLT3_HUMAN,E7ENF8_HUMAN		3	518	+			UPI00000703A3	99					SNV	RALBP1,missense_variant,p.Ser99Gly,ENST00000019317,;RALBP1,missense_variant,p.Ser99Gly,ENST00000383432,NM_006788.3;RALBP1,missense_variant,p.Ser99Gly,ENST00000458039,;RALBP1,missense_variant,p.Ser99Gly,ENST00000585015,;RALBP1,downstream_gene_variant,,ENST00000577221,;RNU2-27P,downstream_gene_variant,,ENST00000516185,;RP11-61L19.3,upstream_gene_variant,,ENST00000609094,;	uc002kob.2	c.295A>G	518/4368	3	3			c.295A>G						18	SNP	c.(295-297)AGT>GGT	5	5			central_nervous_system(1)	1	Broad	ralA binding protein 1			9516893		0.323	ENSG00000017797	12802	g.chr18:9516893A>G	chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			246			246	172.828207	KEEP	28	27	-1	52	26	28	27	-1	173.694562	52	26	0.409836	1	0	0	0	0	1	0	0	0	--	--		0	G			RALBP1_uc002koc.2_Missense_Mutation_p.S99G	121	GBM-12-0688-TP	p.S99G	A	TGAGGCAGAAAGTCCTTCTAA	NM_006788	NP_006779	9516893	Q15311	RBP1_HUMAN	0			3	518	+	G	G			Missense_Mutation	99						
RALGAPA1	253959	broad.mit.edu	GRCh37	14	36211763	36211763	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0158-01	TCGA-06-0158-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307138.6:c.1260A>G	p.Leu420=	p.L420=	ENST00000307138	NM_194301.2	420	ttA/ttG	0			1			C	L	uc001wti.2	protein_coding		CCDS32065.1			1260/6111									ovary(3)|breast(1)	4	c.(1258-1260)TTA>TTG			hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF3	Ral GTPase activating protein, alpha subunit 1				ENSP00000374348		Nov-41									COSM2150114,COSM3401299,COSM2150113	Nov-41	.		ENST00000389698	Transcript			activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	ENSG00000174373	g.chr14:36211763T>C	17770			LOW								--	--	1																																		RALGAPA1_uc001wtj.2_Silent_p.L420L|RALGAPA1_uc010tpv.1_Silent_p.L420L|RALGAPA1_uc010tpw.1_Silent_p.L420L|RALGAPA1_uc001wtk.1_Silent_p.L271L	1,1,1				p.L420L	NM_014990	NP_055805			1,1,1	RGPA1_HUMAN	RALGAPA1	HGNC	Q6GYQ0	RGPA1_HUMAN			Q9H984_HUMAN		11	1651	-			UPI00003B5C50	420					SNV	RALGAPA1,synonymous_variant,p.=,ENST00000258840,NM_001283044.1;RALGAPA1,synonymous_variant,p.=,ENST00000307138,NM_194301.2;RALGAPA1,synonymous_variant,p.=,ENST00000389698,NM_014990.1;RALGAPA1,synonymous_variant,p.=,ENST00000382366,NM_001283043.1;RALGAPA1,synonymous_variant,p.=,ENST00000553892,;RALGAPA1,non_coding_transcript_exon_variant,,ENST00000554704,;RALGAPA1,non_coding_transcript_exon_variant,,ENST00000554652,;RALGAPA1,upstream_gene_variant,,ENST00000557069,;	uc001wti.2	c.1260A>G	1651/7864	3	3			c.1260A>G						14	SNP	c.(1258-1260)TTA>TTG	64	64			ovary(3)|breast(1)	4	Broad	Ral GTPase activating protein, alpha subunit 1			36211763		0.308	ENSG00000174373	12803	g.chr14:36211763T>C	activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity							123.333486	KEEP	28	14	-1	31	39	28	14	-1	124.706263	31	39	0.369565	1	0	0	0	0	0	0	1	0	--	--		0	C			RALGAPA1_uc001wtj.2_Silent_p.L420L|RALGAPA1_uc010tpv.1_Silent_p.L420L|RALGAPA1_uc010tpw.1_Silent_p.L420L|RALGAPA1_uc001wtk.1_Silent_p.L271L	29	GBM-06-0158-TP	p.L420L	T	AAATTGGTAATAAAAATGCCT	NM_014990	NP_055805	36211763	Q6GYQ0	RGPA1_HUMAN	0			11	1651	-	C	C			Silent	420						
RALGAPA2	57186	broad.mit.edu	GRCh37	20	20493785	20493785	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6388-01	TCGA-06-6388-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000202677.7:c.4228C>T	p.His1410Tyr	p.H1410Y	ENST00000202677	NM_020343.3	1410	Cat/Tat	0			1			A	H/Y	uc002wrz.2	protein_coding	YES	CCDS46584.1			4228/5622									ovary(1)	1	c.(4228-4230)CAT>TAT			hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF2	akt substrate AS250				ENSP00000202677		32/40	8.29E-06					1.56E-05			rs762053546,COSM3404970,COSM3404969,COSM3404971	32/40	.		ENST00000202677	Transcript			activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	ENSG00000188559	g.chr20:20493785G>A	16207			MODERATE		-0.42	neutral	getma.org/?cm=msa&ty=f&p=RGPA2_HUMAN&rb=1401&re=1600&var=H1410Y	NA	getma.org/?cm=var&var=hg19,20,20493785,G,A&fts=all	H1410Y	--	--	1																																		RALGAPA2_uc010gcx.2_Missense_Mutation_p.H1114Y|RALGAPA2_uc010zsg.1_Missense_Mutation_p.H858Y|RALGAPA2_uc002wsa.1_Missense_Mutation_p.H182Y	0,1,1,1	1		benign(0.001)	p.H1410Y	NM_020343	NP_065076		tolerated(1)	0,1,1,1	RGPA2_HUMAN	RALGAPA2	HGNC	Q2PPJ7	RGPA2_HUMAN					32	4371	-			UPI000040F987	1410					SNV	RALGAPA2,missense_variant,p.His1227Tyr,ENST00000430436,;RALGAPA2,missense_variant,p.His1410Tyr,ENST00000202677,NM_020343.3;RALGAPA2,upstream_gene_variant,,ENST00000427175,;	uc002wrz.2	c.4228C>T	4236/6152	1	1			c.4228C>T						20	SNP	c.(4228-4230)CAT>TAT	64	64			ovary(1)	1	Broad	akt substrate AS250			20493785		0.547	ENSG00000188559	12804	g.chr20:20493785G>A	activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity							21.259763	KEEP	5	4	-1	16	19	5	4	-1	23.662445	16	19	0.236842	1	0	0	0	0	1	0	0	0	--	--		0	A			RALGAPA2_uc010gcx.2_Missense_Mutation_p.H1114Y|RALGAPA2_uc010zsg.1_Missense_Mutation_p.H858Y|RALGAPA2_uc002wsa.1_Missense_Mutation_p.H182Y	104	GBM-06-6388-TP	p.H1410Y	G	CCTTCCACATGGGCATTGTCA	NM_020343	NP_065076	20493785	Q2PPJ7	RGPA2_HUMAN	0			32	4371	-	A	A			Missense_Mutation	1410						
RALGAPA2	0	broad.mit.edu	GRCh37	20	20493649	20493649	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-6193-01	TCGA-76-6193-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000202677.7:c.4364C>G	p.Ser1455Cys	p.S1455C	ENST00000202677	NM_020343.3	1455	tCt/tGt	0			1			C	S/C	uc002wrz.2	protein_coding	YES	CCDS46584.1			4364/5622									ovary(1)	1	c.(4363-4365)TCT>TGT			Low_complexity_(Seg):seg,hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF2	akt substrate AS250				ENSP00000202677		32/40	1.66E-05							0.000123	rs759968933,COSM3404968,COSM3404967	32/40	.		ENST00000202677	Transcript			activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	ENSG00000188559	g.chr20:20493649G>C	16207			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=RGPA2_HUMAN&rb=1401&re=1600&var=S1455C	NA	getma.org/?cm=var&var=hg19,20,20493649,G,C&fts=all	S1455C	--	--	1																																		RALGAPA2_uc010gcx.2_Missense_Mutation_p.S1159C|RALGAPA2_uc010zsg.1_Missense_Mutation_p.S903C|RALGAPA2_uc002wsa.1_Missense_Mutation_p.S227C	0,1,1	1		benign(0.195)	p.S1455C	NM_020343	NP_065076		deleterious(0.01)	0,1,1	RGPA2_HUMAN	RALGAPA2	HGNC	Q2PPJ7	RGPA2_HUMAN					32	4507	-			UPI000040F987	1455					SNV	RALGAPA2,missense_variant,p.Ser1272Cys,ENST00000430436,;RALGAPA2,missense_variant,p.Ser1455Cys,ENST00000202677,NM_020343.3;RALGAPA2,upstream_gene_variant,,ENST00000427175,;	uc002wrz.2	c.4364C>G	4372/6152	3	3			c.4364C>G						20	SNP	c.(4363-4365)TCT>TGT	50	50			ovary(1)	1	Broad	akt substrate AS250			20493649		0.478	ENSG00000188559	12804	g.chr20:20493649G>C	activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity							18.038703	KEEP	2	4	-1	12	9	2	4	-1	19.401839	12	9	0.25	1	0	0	0	0	1	0	0	0	--	--		0	C			RALGAPA2_uc010gcx.2_Missense_Mutation_p.S1159C|RALGAPA2_uc010zsg.1_Missense_Mutation_p.S903C|RALGAPA2_uc002wsa.1_Missense_Mutation_p.S227C	276	GBM-76-6193-TP	p.S1455C	G	ATCAGAGAGAGAGCCCACTGG	NM_020343	NP_065076	20493649	Q2PPJ7	RGPA2_HUMAN	0			32	4507	-	C	C			Missense_Mutation	1455						
RALGAPA2	57186		GRCh37	20	20571899	20571899	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000202677.7:c.2263G>A	p.Val755Met	p.V755M	ENST00000202677	NM_020343.3	755	Gtg/Atg	0																																																																																																																																																																																																																																												
RALGAPB	0	broad.mit.edu	GRCh37	20	37182634	37182634	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6193-01	TCGA-76-6193-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262879.6:c.3287G>A	p.Cys1096Tyr	p.C1096Y	ENST00000262879		1096	tGc/tAc	0			1			A	C/Y	uc002xiw.2	protein_coding	YES	CCDS13305.1			3287/4485									pancreas(1)|skin(1)	2	c.(3286-3288)TGC>TAC			Low_complexity_(Seg):seg,hmmpanther:PTHR21344,Superfamily_domains:0043732	Ral GTPase activating protein, beta subunit				ENSP00000262879		22/30	8.24E-06					1.50E-05			rs762407607,COSM3405070	22/30	.		ENST00000262879	Transcript			activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	ENSG00000170471	g.chr20:37182634G>A	29221			MODERATE		1.975	medium	getma.org/?cm=msa&ty=f&p=RLGPB_HUMAN&rb=1001&re=1200&var=C1096Y	NA	getma.org/?cm=var&var=hg19,20,37182634,G,A&fts=all	C1096Y	--	--	1																																		RALGAPB_uc002xix.2_Missense_Mutation_p.C1092Y|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.2_Missense_Mutation_p.C874Y	0,1	1		probably_damaging(0.999)	p.C1096Y	NM_020336	NP_065069		deleterious(0)	0,1	RLGPB_HUMAN	RALGAPB	HGNC	Q86X10	RLGPB_HUMAN			Q6MZJ2_HUMAN		22	3544	+			UPI000000DBFD	1096					SNV	RALGAPB,missense_variant,p.Cys1096Tyr,ENST00000262879,;RALGAPB,missense_variant,p.Cys1092Tyr,ENST00000397042,NM_001282918.1;RALGAPB,missense_variant,p.Cys874Tyr,ENST00000397038,NM_020336.2;RALGAPB,missense_variant,p.Cys1096Tyr,ENST00000397040,NM_001282917.1;RALGAPB,missense_variant,p.Cys924Tyr,ENST00000438490,;	uc002xiw.2	c.3287G>A	3571/8661	2	2			c.3287G>A						20	SNP	c.(3286-3288)TGC>TAC	47	47			pancreas(1)|skin(1)	2	Broad	Ral GTPase activating protein, beta subunit			37182634		0.478	ENSG00000170471	12805	g.chr20:37182634G>A	activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity							-16.422594	KEEP	1	4	-1	60	59	1	4	-1	7.456052	60	59	0.038462	1	0	0	0	0	1	0	0	0	--	--		0	A			RALGAPB_uc002xix.2_Missense_Mutation_p.C1092Y|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.2_Missense_Mutation_p.C874Y	276	GBM-76-6193-TP	p.C1096Y	G	GTTACGGATTGCAAGCCCCCG	NM_020336	NP_065069	37182634	Q86X10	RLGPB_HUMAN	0			22	3544	+	A	A			Missense_Mutation	1096						
RALGDS	5900	broad.mit.edu	GRCh37	9	135983521	135983521	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-02-2483-01	TCGA-02-2483-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372050.3:c.1051C>A	p.Leu351Met	p.L351M	ENST00000372050	NM_006266.3	351	Ctg/Atg	0			1			T	L/M	uc004cco.2	protein_coding	YES	CCDS6959.1			1051/2745	T		CIITA		PMBL|Hodgkin Lymphona|				large_intestine(1)|lung(1)|ovary(1)	3	c.(1051-1053)CTG>ATG			hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF35	ral guanine nucleotide dissociation stimulator				ENSP00000361120		18-Jun									COSM3748410,COSM3748413,COSM3748412,COSM3748411	18-Jun	.		ENST00000372050	Transcript			nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	ENSG00000160271	g.chr9:135983521G>T	9842			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=GNDS_HUMAN&rb=228&re=382&var=L351M	NA	getma.org/?cm=var&var=hg19,9,135983521,G,T&fts=all	L351M	--	--	1																																		RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Missense_Mutation_p.L339M|RALGDS_uc004ccr.2_Missense_Mutation_p.L350M|RALGDS_uc011mcv.1_Missense_Mutation_p.L322M|RALGDS_uc004ccs.2_Missense_Mutation_p.L296M|RALGDS_uc011mcw.1_Missense_Mutation_p.L422M|RALGDS_uc004ccv.1_Missense_Mutation_p.L120M|RALGDS_uc004ccu.1_Missense_Mutation_p.L120M	1,1,1,1	1		unknown(0)	p.L351M	NM_006266	NP_006257		tolerated(0.2)	1,1,1,1	GNDS_HUMAN	RALGDS	HGNC	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	Q9HAY0_HUMAN,Q9HAX9_HUMAN,Q9HAX8_HUMAN,Q8WU11_HUMAN,Q8N4Y1_HUMAN		6	1071	-			UPI000012B8BC	351					SNV	RALGDS,missense_variant,p.Leu296Met,ENST00000393160,NM_001042368.2;RALGDS,missense_variant,p.Leu422Met,ENST00000542690,;RALGDS,missense_variant,p.Leu350Met,ENST00000393157,NM_001271775.1;RALGDS,missense_variant,p.Leu351Met,ENST00000372050,NM_006266.3;RALGDS,missense_variant,p.Leu339Met,ENST00000372047,NM_001271776.1;RALGDS,missense_variant,p.Leu322Met,ENST00000372062,NM_001271774.1;RALGDS,upstream_gene_variant,,ENST00000424572,;RALGDS,non_coding_transcript_exon_variant,,ENST00000469972,;RALGDS,non_coding_transcript_exon_variant,,ENST00000482648,;RALGDS,non_coding_transcript_exon_variant,,ENST00000493438,;RALGDS,upstream_gene_variant,,ENST00000460587,;RALGDS,upstream_gene_variant,,ENST00000471109,;RALGDS,upstream_gene_variant,,ENST00000493067,;	uc004cco.2	c.1051C>A	1073/3634	2	2			c.1051C>A	T		CIITA		PMBL|Hodgkin Lymphona|	9	SNP	c.(1051-1053)CTG>ATG	43	43			large_intestine(1)|lung(1)|ovary(1)	3	Broad	ral guanine nucleotide dissociation stimulator			135983521		0.582	ENSG00000160271	12806	g.chr9:135983521G>T	nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	Melanoma(189;762 2088 15384 21931 52515)		815	Melanoma(189;762 2088 15384 21931 52515)		815	-39.895331	KEEP	6	9	0.4	117	120	6	9	0.4	8.968524	117	120	0.052174	1	0	0	0	0	1	0	0	0	--	--		0	T			RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Missense_Mutation_p.L339M|RALGDS_uc004ccr.2_Missense_Mutation_p.L350M|RALGDS_uc011mcv.1_Missense_Mutation_p.L322M|RALGDS_uc004ccs.2_Missense_Mutation_p.L296M|RALGDS_uc011mcw.1_Missense_Mutation_p.L422M|RALGDS_uc004ccv.1_Missense_Mutation_p.L120M|RALGDS_uc004ccu.1_Missense_Mutation_p.L120M	6	GBM-02-2483-TP	p.L351M	G	GCTGGCTCCAGCTCTAGAGTT	NM_006266	NP_006257	135983521	Q12967	GNDS_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	6	1071	-	T	T			Missense_Mutation	351						
RALYL	138046	broad.mit.edu	GRCh37	8	85774590	85774590	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01	TCGA-06-0185-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000517638.1:c.512G>A	p.Arg171His	p.R171H	ENST00000517638	NM_001100391.1	171	cGt/cAt	0	A:0.0005	A:0.0008	1	A:0		A	R/H	uc003ycq.3	protein_coding		CCDS55253.1			473/876									ovary(1)	1	c.(472-474)CGT>CAT			PIRSF_domain:PIRSF037992,hmmpanther:PTHR13968	RALY RNA binding protein-like isoform 2		A:0	A:0.0001	ENSP00000430367	A:0	9-Jun	8.28E-05	0.000654				1.56E-05		0.0002	rs371267637,COSM383568,COSM383569	9-Jun	common_variant		ENST00000521268	Transcript		A:0.0002			identical protein binding|nucleotide binding|RNA binding	ENSG00000184672	g.chr8:85774590G>A	27036			MODERATE		1.83	low	getma.org/?cm=msa&ty=f&p=RALYL_HUMAN&rb=87&re=286&var=R158H	NA	getma.org/?cm=var&var=hg19,8,85774590,G,A&fts=all	R158H	--	--	1																																		RALYL_uc003ycr.3_Missense_Mutation_p.R158H|RALYL_uc003ycs.3_Missense_Mutation_p.R158H|RALYL_uc010lzy.2_Missense_Mutation_p.R147H|RALYL_uc003yct.3_Missense_Mutation_p.R171H|RALYL_uc003ycu.3_Missense_Mutation_p.R85H|RALYL_uc003ycv.3_Missense_Mutation_p.R70H	0,1,1			benign(0.429)	p.R158H	NM_001100392	NP_001093862	A:0	deleterious(0.04)	0,1,1	RALYL_HUMAN	RALYL	HGNC	Q86SE5	RALYL_HUMAN			E5RIX9_HUMAN,E5RG71_HUMAN		7	889	+			UPI0000072539	158					SNV	RALYL,missense_variant,p.Arg158His,ENST00000521268,NM_173848.5;RALYL,missense_variant,p.Arg147His,ENST00000518566,NM_001287243.1;RALYL,missense_variant,p.Arg158His,ENST00000522455,NM_001100392.1;RALYL,missense_variant,p.Arg171His,ENST00000517638,NM_001100391.1;RALYL,missense_variant,p.Arg158His,ENST00000521695,NM_001100393.1;RALYL,missense_variant,p.Arg85His,ENST00000523850,NM_001287244.1;RALYL,missense_variant,p.Arg69His,ENST00000521376,;RP11-98H4.4,downstream_gene_variant,,ENST00000521595,;	uc003ycq.3	c.473G>A	1578/2701	1	1			c.473G>A						8	SNP	c.(472-474)CGT>CAT	50	50			ovary(1)	1	Broad	RALY RNA binding protein-like isoform 2			85774590		0.507	ENSG00000184672	12810	g.chr8:85774590G>A			identical protein binding|nucleotide binding|RNA binding							71.876885	KEEP	14	20	-1	18	12	14	20	-1	71.88094	18	12	0.490196	1	0	0	0	0	1	0	0	0	--	--		0	A			RALYL_uc003ycr.3_Missense_Mutation_p.R158H|RALYL_uc003ycs.3_Missense_Mutation_p.R158H|RALYL_uc010lzy.2_Missense_Mutation_p.R147H|RALYL_uc003yct.3_Missense_Mutation_p.R171H|RALYL_uc003ycu.3_Missense_Mutation_p.R85H|RALYL_uc003ycv.3_Missense_Mutation_p.R70H	40	GBM-06-0185-TP	p.R158H	G	CCGCTGAAGCGTCCCAGAGTG	NM_001100392	NP_001093862	85774590	Q86SE5	RALYL_HUMAN	0			7	889	+	A	A			Missense_Mutation	158						
RALYL	0	broad.mit.edu	GRCh37	8	85774546	85774546	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-2518-01	TCGA-27-2518-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521268.1:c.429C>T	p.His143=	p.H143=	ENST00000521268	NM_173848.5	143	caC/caT	0	T:0		1			T	H	uc003ycq.3	protein_coding		CCDS55253.1			429/876									ovary(1)	1	c.(427-429)CAC>CAT			PIRSF_domain:PIRSF037992,hmmpanther:PTHR13968	RALY RNA binding protein-like isoform 2			T:0.0001	ENSP00000430367		9-Jun	1.66E-05				0.000158	1.63E-05			rs375364868,COSM3413142,COSM3413143	9-Jun	.		ENST00000521268	Transcript					identical protein binding|nucleotide binding|RNA binding	ENSG00000184672	g.chr8:85774546C>T	27036			LOW								--	--	1																																		RALYL_uc003ycr.3_Silent_p.H143H|RALYL_uc003ycs.3_Silent_p.H143H|RALYL_uc010lzy.2_Silent_p.H132H|RALYL_uc003yct.3_Silent_p.H156H|RALYL_uc003ycu.3_Silent_p.H70H|RALYL_uc003ycv.3_Silent_p.H55H	0,1,1				p.H143H	NM_001100392	NP_001093862			0,1,1	RALYL_HUMAN	RALYL	HGNC	Q86SE5	RALYL_HUMAN			E5RIX9_HUMAN,E5RG71_HUMAN		7	845	+			UPI0000072539	143					SNV	RALYL,synonymous_variant,p.=,ENST00000521268,NM_173848.5;RALYL,synonymous_variant,p.=,ENST00000518566,NM_001287243.1;RALYL,synonymous_variant,p.=,ENST00000522455,NM_001100392.1;RALYL,synonymous_variant,p.=,ENST00000517638,NM_001100391.1;RALYL,synonymous_variant,p.=,ENST00000521695,NM_001100393.1;RALYL,synonymous_variant,p.=,ENST00000523850,NM_001287244.1;RALYL,synonymous_variant,p.=,ENST00000521376,;RP11-98H4.4,downstream_gene_variant,,ENST00000521595,;	uc003ycq.3	c.429C>T	1534/2701	2	2			c.429C>T						8	SNP	c.(427-429)CAC>CAT	45	45			ovary(1)	1	Broad	RALY RNA binding protein-like isoform 2			85774546		0.483	ENSG00000184672	12810	g.chr8:85774546C>T			identical protein binding|nucleotide binding|RNA binding							7.35283	KEEP	2	3	-1	19	19	2	3	-1	12.362215	19	19	0.131579	1	0	0	0	0	0	0	1	0	--	--		0	T			RALYL_uc003ycr.3_Silent_p.H143H|RALYL_uc003ycs.3_Silent_p.H143H|RALYL_uc010lzy.2_Silent_p.H132H|RALYL_uc003yct.3_Silent_p.H156H|RALYL_uc003ycu.3_Silent_p.H70H|RALYL_uc003ycv.3_Silent_p.H55H	198	GBM-27-2518-TP	p.H143H	C	TTGATTACCACGGGCGTGTGC	NM_001100392	NP_001093862	85774546	Q86SE5	RALYL_HUMAN	0			7	845	+	T	T			Silent	143						
RALYL	0	broad.mit.edu	GRCh37	8	85774569	85774569	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01	TCGA-27-2527-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521268.1:c.452G>A	p.Arg151His	p.R151H	ENST00000521268	NM_173848.5	151	cGt/cAt	0			1			A	R/H	uc003ycq.3	protein_coding		CCDS55253.1			452/876									ovary(1)	1	c.(451-453)CGT>CAT			PIRSF_domain:PIRSF037992,hmmpanther:PTHR13968	RALY RNA binding protein-like isoform 2				ENSP00000430367		9-Jun	2.48E-05					4.73E-05			rs766785304,COSM1159073,COSM1159074	9-Jun	.		ENST00000521268	Transcript					identical protein binding|nucleotide binding|RNA binding	ENSG00000184672	g.chr8:85774569G>A	27036			MODERATE		2.295	medium	getma.org/?cm=msa&ty=f&p=RALYL_HUMAN&rb=87&re=286&var=R151H	NA	getma.org/?cm=var&var=hg19,8,85774569,G,A&fts=all	R151H	--	--	1																																		RALYL_uc003ycr.3_Missense_Mutation_p.R151H|RALYL_uc003ycs.3_Missense_Mutation_p.R151H|RALYL_uc010lzy.2_Missense_Mutation_p.R140H|RALYL_uc003yct.3_Missense_Mutation_p.R164H|RALYL_uc003ycu.3_Missense_Mutation_p.R78H|RALYL_uc003ycv.3_Missense_Mutation_p.R63H	0,1,1			probably_damaging(0.917)	p.R151H	NM_001100392	NP_001093862		deleterious(0.01)	0,1,1	RALYL_HUMAN	RALYL	HGNC	Q86SE5	RALYL_HUMAN			E5RIX9_HUMAN,E5RG71_HUMAN		7	868	+			UPI0000072539	151					SNV	RALYL,missense_variant,p.Arg151His,ENST00000521268,NM_173848.5;RALYL,missense_variant,p.Arg140His,ENST00000518566,NM_001287243.1;RALYL,missense_variant,p.Arg151His,ENST00000522455,NM_001100392.1;RALYL,missense_variant,p.Arg164His,ENST00000517638,NM_001100391.1;RALYL,missense_variant,p.Arg151His,ENST00000521695,NM_001100393.1;RALYL,missense_variant,p.Arg78His,ENST00000523850,NM_001287244.1;RALYL,missense_variant,p.Arg62His,ENST00000521376,;RP11-98H4.4,downstream_gene_variant,,ENST00000521595,;	uc003ycq.3	c.452G>A	1557/2701	2	2			c.452G>A						8	SNP	c.(451-453)CGT>CAT	36	36			ovary(1)	1	Broad	RALY RNA binding protein-like isoform 2			85774569		0.498	ENSG00000184672	12810	g.chr8:85774569G>A			identical protein binding|nucleotide binding|RNA binding							7.607693	KEEP	2	5	-1	27	13	2	5	-1	12.354407	27	13	0.15	1	0	0	0	0	1	0	0	0	--	--		0	A			RALYL_uc003ycr.3_Missense_Mutation_p.R151H|RALYL_uc003ycs.3_Missense_Mutation_p.R151H|RALYL_uc010lzy.2_Missense_Mutation_p.R140H|RALYL_uc003yct.3_Missense_Mutation_p.R164H|RALYL_uc003ycu.3_Missense_Mutation_p.R78H|RALYL_uc003ycv.3_Missense_Mutation_p.R63H	204	GBM-27-2527-TP	p.R151H	G	CCACCTCCCCGTGCAGTAATT	NM_001100392	NP_001093862	85774569	Q86SE5	RALYL_HUMAN	0			7	868	+	A	A			Missense_Mutation	151						
RALYL	0	broad.mit.edu	GRCh37	8	85774532	85774532	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C			TCGA-32-4208-01	TCGA-32-4208-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521268.1:c.415T>C	p.Leu139=	p.L139=	ENST00000521268	NM_173848.5	139	Tta/Cta	0			1			C	L	uc003ycq.3	protein_coding		CCDS55253.1			415/876									ovary(1)	1	c.(415-417)TTA>CTA			PIRSF_domain:PIRSF037992,hmmpanther:PTHR13968,Low_complexity_(Seg):seg	RALY RNA binding protein-like isoform 2				ENSP00000430367		9-Jun									COSM3413140,COSM3413141	9-Jun	.		ENST00000521268	Transcript					identical protein binding|nucleotide binding|RNA binding	ENSG00000184672	g.chr8:85774532T>C	27036			LOW								--	--	1																																		RALYL_uc003ycr.3_Silent_p.L139L|RALYL_uc003ycs.3_Silent_p.L139L|RALYL_uc010lzy.2_Silent_p.L128L|RALYL_uc003yct.3_Silent_p.L152L|RALYL_uc003ycu.3_Silent_p.L66L|RALYL_uc003ycv.3_Silent_p.L51L	1,1				p.L139L	NM_001100392	NP_001093862			1,1	RALYL_HUMAN	RALYL	HGNC	Q86SE5	RALYL_HUMAN			E5RIX9_HUMAN,E5RG71_HUMAN		7	831	+			UPI0000072539	139					SNV	RALYL,splice_region_variant,p.=,ENST00000521268,NM_173848.5;RALYL,splice_region_variant,p.=,ENST00000518566,NM_001287243.1;RALYL,splice_region_variant,p.=,ENST00000522455,NM_001100392.1;RALYL,splice_region_variant,p.=,ENST00000517638,NM_001100391.1;RALYL,splice_region_variant,p.=,ENST00000521695,NM_001100393.1;RALYL,splice_region_variant,p.=,ENST00000523850,NM_001287244.1;RALYL,splice_region_variant,p.=,ENST00000521376,;RP11-98H4.4,downstream_gene_variant,,ENST00000521595,;	uc003ycq.3	c.415T>C	1520/2701	3	3			c.415T>C						8	SNP	c.(415-417)TTA>CTA	56	56			ovary(1)	1	Broad	RALY RNA binding protein-like isoform 2			85774532		0.473	ENSG00000184672	12810	g.chr8:85774532T>C			identical protein binding|nucleotide binding|RNA binding							64.874898	KEEP	8	10	-1	14	11	8	10	-1	64.927449	14	11	0.459459	1	0	0	0	0	0	0	1	0	--	--		0	C			RALYL_uc003ycr.3_Silent_p.L139L|RALYL_uc003ycs.3_Silent_p.L139L|RALYL_uc010lzy.2_Silent_p.L128L|RALYL_uc003yct.3_Silent_p.L152L|RALYL_uc003ycu.3_Silent_p.L66L|RALYL_uc003ycv.3_Silent_p.L51L	243	GBM-32-4208-TP	p.L139L	T	TTTGTAAAGGTTATTTGATTA	NM_001100392	NP_001093862	85774532	Q86SE5	RALYL_HUMAN	0			7	831	+	C	C			Silent	139						
RAMP3	10268	broad.mit.edu	GRCh37	7	45216987	45216987	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0749-01	TCGA-06-0749-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000242249.4:c.138C>T	p.Asp46=	p.D46=	ENST00000242249	NM_005856.2	46	gaC/gaT	0			1			T	D	uc003tnb.2	protein_coding	YES	CCDS5503.1			138/447										0	c.(136-138)GAC>GAT			Pfam_domain:PF04901,hmmpanther:PTHR14076,hmmpanther:PTHR14076:SF2	receptor activity modifying protein 3 precursor	Pramlintide(DB01278)			ENSP00000242249		3-Feb									COSM3412099	3-Feb	.		ENST00000242249	Transcript			intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity	ENSG00000122679	g.chr7:45216987C>T	9845			LOW								--	--	1																																		RAMP3_uc003tnc.2_Silent_p.D14D	1	1			p.D46D	NM_005856	NP_005847			1	RAMP3_HUMAN	RAMP3	HGNC	O60896	RAMP3_HUMAN			M5AMS3_HUMAN,A4D2L1_HUMAN		2	199	+			UPI0000134303	46			Extracellular (Potential).		SNV	RAMP3,synonymous_variant,p.=,ENST00000242249,NM_005856.2;RAMP3,synonymous_variant,p.=,ENST00000481345,;RAMP3,synonymous_variant,p.=,ENST00000496212,;	uc003tnb.2	c.138C>T	176/1323	1	1			c.138C>T						7	SNP	c.(136-138)GAC>GAT	12	12				0	Broad	receptor activity modifying protein 3 precursor		Pramlintide(DB01278)	45216987		0.607	ENSG00000122679	12813	g.chr7:45216987C>T	intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity							15.800434	KEEP	13	4	-1	81	46	13	4	-1	33.407814	81	46	0.125	1	0	0	0	0	0	0	1	0	--	--		0	T			RAMP3_uc003tnc.2_Silent_p.D14D	69	GBM-06-0749-TP	p.D46D	C	CTTTCGCAGACATGATGGGCA	NM_005856	NP_005847	45216987	O60896	RAMP3_HUMAN	0			2	199	+	T	T			Silent	46			Extracellular (Potential).			
RAMP3	10268		GRCh37	7	45222997	45222997	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0240-01	TCGA-06-0240-01																				ENST00000242249.4:c.433G>A	p.Asp145Asn	p.D145N	ENST00000242249	NM_005856.2	145	Gac/Aac	0																																																																																																																																																																																																																																												
RAMP3	10268		GRCh37	7	45216936	45216936	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000242249.4:c.87C>T	p.Asn29=	p.N29=	ENST00000242249	NM_005856.2	29	aaC/aaT	0																																																																																																																																																																																																																																												
RANBP10	57610	broad.mit.edu	GRCh37	16	67763893	67763893	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-5415-01	TCGA-06-5415-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317506.3:c.946C>G	p.Arg316Gly	p.R316G	ENST00000317506	NM_020850.1	316	Cgc/Ggc	0			1			C	R/G	uc002eud.2	protein_coding	YES	CCDS32469.1			946/1863									ovary(1)	1	c.(946-948)CGC>GGC			SMART_domains:SM00668,Pfam_domain:PF10607,hmmpanther:PTHR12864,hmmpanther:PTHR12864:SF17,PROSITE_profiles:PS50897	RAN binding protein 10				ENSP00000316589		14-Aug	4.12E-05					7.51E-05			rs774958045,COSM2153246,COSM3402432	14-Aug	.		ENST00000317506	Transcript						ENSG00000141084	g.chr16:67763893G>C	29285			MODERATE		1.24	low	getma.org/?cm=msa&ty=f&p=RBP10_HUMAN&rb=291&re=602&var=R316G	NA	getma.org/?cm=var&var=hg19,16,67763893,G,C&fts=all	R316G	--	--	1																																		RANBP10_uc010ceo.2_Missense_Mutation_p.R87G|RANBP10_uc010vju.1_Missense_Mutation_p.R260G|RANBP10_uc010vjv.1_Missense_Mutation_p.R199G|RANBP10_uc010vjw.1_5'UTR	0,1,1	1		benign(0.299)	p.R316G	NM_020850	NP_065901		deleterious(0.01)	0,1,1	RBP10_HUMAN	RANBP10	HGNC	Q6VN20	RBP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)	B3KP49_HUMAN		8	1062	-		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)	UPI00001C1FA6	316			CTLH.		SNV	RANBP10,missense_variant,p.Arg316Gly,ENST00000317506,NM_020850.1;RANBP10,missense_variant,p.Arg87Gly,ENST00000536251,;RANBP10,missense_variant,p.Arg316Gly,ENST00000602677,;RANBP10,missense_variant,p.Arg199Gly,ENST00000411657,;RANBP10,missense_variant,p.Arg260Gly,ENST00000448631,;RANBP10,downstream_gene_variant,,ENST00000425512,;RANBP10,3_prime_UTR_variant,,ENST00000602506,;RANBP10,downstream_gene_variant,,ENST00000602525,;RANBP10,downstream_gene_variant,,ENST00000602638,;RANBP10,downstream_gene_variant,,ENST00000602815,;	uc002eud.2	c.946C>G	1062/5305	4	4			c.946C>G						16	SNP	c.(946-948)CGC>GGC	47	47			ovary(1)	1	Broad	RAN binding protein 10			67763893		0.632	ENSG00000141084	12816	g.chr16:67763893G>C										169.387243	KEEP	22	35	-1	38	34	22	35	-1	169.94126	38	34	0.424779	1	0	0	0	0	1	0	0	0	--	--		0	C			RANBP10_uc010ceo.2_Missense_Mutation_p.R87G|RANBP10_uc010vju.1_Missense_Mutation_p.R260G|RANBP10_uc010vjv.1_Missense_Mutation_p.R199G|RANBP10_uc010vjw.1_5'UTR	98	GBM-06-5415-TP	p.R316G	G	GGGTAGAAGCGCTGGGTGGTC	NM_020850	NP_065901	67763893	Q6VN20	RBP10_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)	8	1062	-	C	C		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)	Missense_Mutation	316			CTLH.			
RANBP10	0	broad.mit.edu	GRCh37	16	67840366	67840366	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-74-6573-01	TCGA-74-6573-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317506.3:c.74delG	p.Gly25AlafsTer11	p.G25Afs*11	ENST00000317506	NM_020850.1	25	gGc/gc	0			1			-	G/X	uc002eud.2	protein_coding	YES	CCDS32469.1			74/1863									ovary(1)	1	c.(73-75)GGCfs			hmmpanther:PTHR12864,hmmpanther:PTHR12864:SF17,Low_complexity_(Seg):seg	RAN binding protein 10				ENSP00000316589		14-Jan										14-Jan	.		ENST00000317506	Transcript						ENSG00000141084	g.chr16:67840366delC	29285			HIGH								--	--	1																																		RANBP10_uc010ceo.2_5'UTR|RANBP10_uc010vju.1_Frame_Shift_Del_p.G25fs|RANBP10_uc010vjv.1_5'UTR|RANBP10_uc010vjx.1_Frame_Shift_Del_p.G25fs|RANBP10_uc010vjy.1_5'UTR|TSNAXIP1_uc010cep.2_5'Flank|TSNAXIP1_uc010vjz.1_5'Flank|TSNAXIP1_uc002euf.3_5'Flank|TSNAXIP1_uc010vka.1_5'Flank|TSNAXIP1_uc010vkb.1_5'Flank|TSNAXIP1_uc002eug.3_5'Flank|TSNAXIP1_uc002euh.3_5'Flank|TSNAXIP1_uc002eui.3_5'Flank|TSNAXIP1_uc002euj.2_5'Flank		1			p.G25fs	NM_020850	NP_065901				RBP10_HUMAN	RANBP10	HGNC	Q6VN20	RBP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)	B3KP49_HUMAN		1	190	-		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)	UPI00001C1FA6	25					deletion	RANBP10,frameshift_variant,p.Gly25AlafsTer11,ENST00000317506,NM_020850.1;RANBP10,frameshift_variant,p.Gly25AlafsTer11,ENST00000602677,;RANBP10,frameshift_variant,p.Gly25AlafsTer11,ENST00000448631,;RANBP10,5_prime_UTR_variant,,ENST00000536251,;RANBP10,5_prime_UTR_variant,,ENST00000411657,;RANBP10,5_prime_UTR_variant,,ENST00000425512,;TSNAXIP1,upstream_gene_variant,,ENST00000388833,NM_018430.2;TSNAXIP1,upstream_gene_variant,,ENST00000415766,;TSNAXIP1,upstream_gene_variant,,ENST00000561639,;TSNAXIP1,upstream_gene_variant,,ENST00000431934,;TSNAXIP1,upstream_gene_variant,,ENST00000567852,;TSNAXIP1,upstream_gene_variant,,ENST00000565148,;TSNAXIP1,upstream_gene_variant,,ENST00000561654,;RANBP10,non_coding_transcript_exon_variant,,ENST00000602887,;TSNAXIP1,upstream_gene_variant,,ENST00000562321,;RANBP10,frameshift_variant,p.Gly25AlafsTer11,ENST00000602506,;RANBP10,frameshift_variant,p.Gly25AlafsTer11,ENST00000602638,;RANBP10,frameshift_variant,p.Gly25AlafsTer11,ENST00000602815,;RANBP10,non_coding_transcript_exon_variant,,ENST00000602525,;TSNAXIP1,upstream_gene_variant,,ENST00000568990,;TSNAXIP1,upstream_gene_variant,,ENST00000466164,;TSNAXIP1,upstream_gene_variant,,ENST00000487120,;TSNAXIP1,upstream_gene_variant,,ENST00000569504,;TSNAXIP1,upstream_gene_variant,,ENST00000565339,;TSNAXIP1,upstream_gene_variant,,ENST00000563363,;TSNAXIP1,upstream_gene_variant,,ENST00000562633,;	uc002eud.2	c.74delG	190/5305	5	5			c.74delG						16	DEL	c.(73-75)GGCfs	63	63			ovary(1)	1	Broad	RAN binding protein 10			67840366		0.711	ENSG00000141084	12816	g.chr16:67840366delC																							0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			RANBP10_uc010ceo.2_5'UTR|RANBP10_uc010vju.1_Frame_Shift_Del_p.G25fs|RANBP10_uc010vjv.1_5'UTR|RANBP10_uc010vjx.1_Frame_Shift_Del_p.G25fs|RANBP10_uc010vjy.1_5'UTR|TSNAXIP1_uc010cep.2_5'Flank|TSNAXIP1_uc010vjz.1_5'Flank|TSNAXIP1_uc002euf.3_5'Flank|TSNAXIP1_uc010vka.1_5'Flank|TSNAXIP1_uc010vkb.1_5'Flank|TSNAXIP1_uc002eug.3_5'Flank|TSNAXIP1_uc002euh.3_5'Flank|TSNAXIP1_uc002eui.3_5'Flank|TSNAXIP1_uc002euj.2_5'Flank	260	GBM-74-6573-TP	p.G25fs	C	CGGCAGCCCGCCCCCAGCGCC	NM_020850	NP_065901	67840366	Q6VN20	RBP10_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)	1	190	-	-	-		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)	Frame_Shift_Del	25						
RANBP17	64901	broad.mit.edu	GRCh37	5	170351426	170351426	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01	TCGA-06-0174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000523189.1:c.1340C>T	p.Thr447Met	p.T447M	ENST00000523189	NM_022897.3	447	aCg/aTg	0	T:0.0002		1			T	T/M	uc003mba.2	protein_coding	YES	CCDS34287.1			1340/3267	T		TRD@		ALL				ovary(2)|central_nervous_system(1)	3	c.(1339-1341)ACG>ATG			Superfamily_domains:SSF48371,hmmpanther:PTHR12596,hmmpanther:PTHR12596:SF8	RAN binding protein 17			T:0	ENSP00000427975		28-Dec	0.000156	9.62E-05	0.000869			1.50E-05		0.000427	rs369051193,COSM736761	28-Dec	common_variant		ENST00000523189	Transcript			mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	ENSG00000204764	g.chr5:170351426C>T	14428			MODERATE		2.82	medium	getma.org/?cm=msa&ty=f&p=RBP17_HUMAN&rb=296&re=495&var=T447M	NA	getma.org/?cm=var&var=hg19,5,170351426,C,T&fts=all	T447M	--	--	1																																		RANBP17_uc003max.1_RNA|RANBP17_uc003may.1_RNA|RANBP17_uc003maz.1_RNA|RANBP17_uc010jjr.1_RNA	0,1	1		possibly_damaging(0.84)	p.T447M	NM_022897	NP_075048		tolerated(0.08)	0,1	RBP17_HUMAN	RANBP17	HGNC	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Q546R4_HUMAN,E5RHX1_HUMAN		12	1356	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	UPI000000107C	447					SNV	RANBP17,missense_variant,p.Thr447Met,ENST00000523189,NM_022897.3;RANBP17,downstream_gene_variant,,ENST00000522734,;RANBP17,non_coding_transcript_exon_variant,,ENST00000522380,;RANBP17,non_coding_transcript_exon_variant,,ENST00000520879,;RANBP17,non_coding_transcript_exon_variant,,ENST00000517629,;RANBP17,missense_variant,p.Thr447Met,ENST00000522066,;RANBP17,missense_variant,p.Thr447Met,ENST00000519949,;RANBP17,missense_variant,p.Thr425Met,ENST00000520864,;RANBP17,missense_variant,p.Thr447Met,ENST00000522533,;RANBP17,missense_variant,p.Thr447Met,ENST00000389118,;RANBP17,missense_variant,p.Thr447Met,ENST00000519256,;	uc003mba.2	c.1340C>T	1504/4588	1	1			c.1340C>T	T		TRD@		ALL	5	SNP	c.(1339-1341)ACG>ATG	9	9			ovary(2)|central_nervous_system(1)	3	Broad	RAN binding protein 17			170351426		0.413	ENSG00000204764	12817	g.chr5:170351426C>T	mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			661			661	151.226023	KEEP	28	30	-1	53	27	28	30	-1	152.165794	53	27	0.406504	1	0	0	0	0	1	0	0	0	--	--		0	T			RANBP17_uc003max.1_RNA|RANBP17_uc003may.1_RNA|RANBP17_uc003maz.1_RNA|RANBP17_uc010jjr.1_RNA	37	GBM-06-0174-TP	p.T447M	C	CAGTTGTGCACGGTCAGCAGA	NM_022897	NP_075048	170351426	Q9H2T7	RBP17_HUMAN	0	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		12	1356	+	T	T	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Missense_Mutation	447						
RANBP17	0	broad.mit.edu	GRCh37	5	170725815	170725815	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01	TCGA-32-1970-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000523189.1:c.3220C>T	p.Arg1074Cys	p.R1074C	ENST00000523189	NM_022897.3	1074	Cgc/Tgc	0			1			T	R/C	uc003mba.2	protein_coding	YES	CCDS34287.1			3220/3267	T		TRD@		ALL				ovary(2)|central_nervous_system(1)	3	c.(3220-3222)CGC>TGC			hmmpanther:PTHR12596,hmmpanther:PTHR12596:SF8	RAN binding protein 17				ENSP00000427975		28/28	1.65E-05	9.61E-05				1.50E-05			rs748673739,COSM3339386	28/28	.		ENST00000523189	Transcript			mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	ENSG00000204764	g.chr5:170725815C>T	14428			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=RBP17_HUMAN&rb=896&re=1088&var=R1074C	NA	getma.org/?cm=var&var=hg19,5,170725815,C,T&fts=all	R1074C	--	--	1																																		RANBP17_uc003mbb.2_Missense_Mutation_p.R399C|RANBP17_uc010jjs.2_RNA	0,1	1		possibly_damaging(0.791)	p.R1074C	NM_022897	NP_075048		deleterious(0.01)	0,1	RBP17_HUMAN	RANBP17	HGNC	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Q546R4_HUMAN,E5RHX1_HUMAN		28	3236	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	UPI000000107C	1074					SNV	RANBP17,missense_variant,p.Arg1074Cys,ENST00000523189,NM_022897.3;RANBP17,non_coding_transcript_exon_variant,,ENST00000521759,;RANBP17,3_prime_UTR_variant,,ENST00000522066,;RANBP17,3_prime_UTR_variant,,ENST00000519949,;RANBP17,3_prime_UTR_variant,,ENST00000522533,;RANBP17,3_prime_UTR_variant,,ENST00000389118,;	uc003mba.2	c.3220C>T	3384/4588	2	2			c.3220C>T	T		TRD@		ALL	5	SNP	c.(3220-3222)CGC>TGC	25	25			ovary(2)|central_nervous_system(1)	3	Broad	RAN binding protein 17			170725815		0.502	ENSG00000204764	12817	g.chr5:170725815C>T	mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			661			661	69.184087	KEEP	18	17	-1	29	19	18	17	-1	70.061907	29	19	0.375	1	0	0	0	0	1	0	0	0	--	--		0	T			RANBP17_uc003mbb.2_Missense_Mutation_p.R399C|RANBP17_uc010jjs.2_RNA	228	GBM-32-1970-TP	p.R1074C	C	AGAGGCGTTGCGCAGTGATGG	NM_022897	NP_075048	170725815	Q9H2T7	RBP17_HUMAN	0	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		28	3236	+	T	T	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Missense_Mutation	1074						
RANBP2	0	broad.mit.edu	GRCh37	2	109388156	109388156	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A			TCGA-27-2521-01	TCGA-27-2521-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283195.6:c.7850-1G>A		p.X2617_splice	ENST00000283195	NM_006267.4			0			1			A		uc002tem.3	protein_coding	YES	CCDS2079.1			7850/9675							RANBP2/ALK(16)		soft_tissue(16)|lung(1)|pancreas(1)	18	c.e21-1				RAN binding protein 2				ENSP00000283195											COSM3406777		.		ENST00000283195	Transcript	1		carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	ENSG00000153201	g.chr2:109388156G>A	9848			HIGH	20/28							--	--	1																																			1	1			p.A2617_splice	NM_006267	NP_006258			1	RBP2_HUMAN	RANBP2	HGNC	P49792	RBP2_HUMAN			I1Z9D1_HUMAN		21	7976	+			UPI0000207FB9						SNV	RANBP2,splice_acceptor_variant,,ENST00000283195,NM_006267.4;	uc002tem.3	c.7850_splice	-/11711	5	1			c.7850_splice						2	SNP	c.e21-1	55	55	RANBP2/ALK(16)		soft_tissue(16)|lung(1)|pancreas(1)	18	Broad	RAN binding protein 2			109388156		0.348	ENSG00000153201	12818	g.chr2:109388156G>A	carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding							-71.27842	KEEP	0	6	-1	150	157	0	6	-1	6.563246	150	157	0.013841	1	0	0	0	0	0	0	0	1	--	--		0	A				200	GBM-27-2521-TP	p.A2617_splice	G	TGGTGTTACAGCAAAAGAGAA	NM_006267	NP_006258	109388156	P49792	RBP2_HUMAN	0			21	7976	+	A	A			Splice_Site							
RANBP6	26953	broad.mit.edu	GRCh37	9	6012658	6012658	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0157-01	TCGA-06-0157-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259569.5:c.2950A>C	p.Ile984Leu	p.I984L	ENST00000259569	NM_012416.3	984	Ata/Cta	0			1			G	I/L	uc003zjr.2	protein_coding	YES	CCDS6467.1			2950/3318									ovary(3)	3	c.(2950-2952)ATA>CTA			Gene3D:1.25.10.10,hmmpanther:PTHR10527:SF16,hmmpanther:PTHR10527	RAN binding protein 6				ENSP00000259569		1-Jan									COSM487497	1-Jan	.		ENST00000259569	Transcript			protein transport	cytoplasm|nucleus	binding	ENSG00000137040	g.chr9:6012658T>G	9851			MODERATE		0.13	neutral	getma.org/?cm=msa&ty=f&p=RNBP6_HUMAN&rb=945&re=1105&var=I984L	NA	getma.org/?cm=var&var=hg19,9,6012658,T,G&fts=all	I984L	--	--	1																																		RANBP6_uc011lmf.1_Missense_Mutation_p.I632L|RANBP6_uc003zjs.2_Missense_Mutation_p.I572L	1	1		benign(0.006)	p.I984L	NM_012416	NP_036548		deleterious(0.04)	1	RNBP6_HUMAN	RANBP6	HGNC	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	B4E340_HUMAN		1	2961	-		Acute lymphoblastic leukemia(23;0.158)	UPI000013D061	984			HEAT 7.		SNV	RANBP6,missense_variant,p.Ile984Leu,ENST00000259569,NM_012416.3,NM_001243203.1,NM_001243202.1;KIAA2026,upstream_gene_variant,,ENST00000399933,NM_001017969.2;KIAA2026,upstream_gene_variant,,ENST00000381461,;KIAA2026,upstream_gene_variant,,ENST00000513355,;MIR4665,downstream_gene_variant,,ENST00000581132,;RANBP6,downstream_gene_variant,,ENST00000485372,;	uc003zjr.2	c.2950A>C	2961/4576	3	3			c.2950A>C						9	SNP	c.(2950-2952)ATA>CTA	61	61			ovary(3)	3	Broad	RAN binding protein 6			6012658		0.363	ENSG00000137040	12821	g.chr9:6012658T>G	protein transport	cytoplasm|nucleus	binding							-35.02216	KEEP	2	1	-1	94	99	2	1	-1	6.954328	94	99	0.018634	1	0	0	0	0	1	0	0	0	--	--		0	G			RANBP6_uc011lmf.1_Missense_Mutation_p.I632L|RANBP6_uc003zjs.2_Missense_Mutation_p.I572L	28	GBM-06-0157-TP	p.I984L	T	ATCTTCCCTATTGCTGAGATA	NM_012416	NP_036548	6012658	O60518	RNBP6_HUMAN	0		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	2961	-	G	G		Acute lymphoblastic leukemia(23;0.158)	Missense_Mutation	984			HEAT 7.			
RANBP6	0	broad.mit.edu	GRCh37	9	6014248	6014248	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-14-1825-01	TCGA-14-1825-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259569.5:c.1360C>A	p.Leu454Met	p.L454M	ENST00000259569	NM_012416.3	454	Ctg/Atg	0			1			T	L/M	uc003zjr.2	protein_coding	YES	CCDS6467.1			1360/3318									ovary(3)	3	c.(1360-1362)CTG>ATG			Superfamily_domains:SSF48371,Gene3D:1.25.10.10,Pfam_domain:PF13646,hmmpanther:PTHR10527:SF16,hmmpanther:PTHR10527	RAN binding protein 6				ENSP00000259569		1-Jan									COSM3413684	1-Jan	.		ENST00000259569	Transcript			protein transport	cytoplasm|nucleus	binding	ENSG00000137040	g.chr9:6014248G>T	9851			MODERATE		3.11	medium	getma.org/?cm=msa&ty=f&p=RNBP6_HUMAN&rb=367&re=475&var=L454M	getma.org/pdb.php?prot=RNBP6_HUMAN&from=367&to=475&var=L454M	getma.org/?cm=var&var=hg19,9,6014248,G,T&fts=all	L454M	--	--	1																																		RANBP6_uc011lmf.1_Missense_Mutation_p.L102M|RANBP6_uc003zjs.2_Missense_Mutation_p.L42M	1	1		probably_damaging(0.995)	p.L454M	NM_012416	NP_036548		deleterious(0)	1	RNBP6_HUMAN	RANBP6	HGNC	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	B4E340_HUMAN		1	1371	-		Acute lymphoblastic leukemia(23;0.158)	UPI000013D061	454			HEAT 4.		SNV	RANBP6,missense_variant,p.Leu454Met,ENST00000259569,NM_012416.3,NM_001243203.1,NM_001243202.1;RANBP6,non_coding_transcript_exon_variant,,ENST00000485372,;	uc003zjr.2	c.1360C>A	1371/4576	2	2			c.1360C>A						9	SNP	c.(1360-1362)CTG>ATG	34	34			ovary(3)	3	Broad	RAN binding protein 6			6014248		0.413	ENSG00000137040	12821	g.chr9:6014248G>T	protein transport	cytoplasm|nucleus	binding							72.425686	KEEP	18	10	0.642857143	23	28	18	10	0.642857143	73.757883	23	28	0.356164	1	0	0	0	0	1	0	0	0	--	--		0	T			RANBP6_uc011lmf.1_Missense_Mutation_p.L102M|RANBP6_uc003zjs.2_Missense_Mutation_p.L42M	148	GBM-14-1825-TP	p.L454M	G	GTACGTAACAGAGCTGCAATC	NM_012416	NP_036548	6014248	O60518	RNBP6_HUMAN	0		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	1371	-	T	T		Acute lymphoblastic leukemia(23;0.158)	Missense_Mutation	454			HEAT 4.			
RANBP6	0	broad.mit.edu	GRCh37	9	6012502	6012502	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-19-2631-01	TCGA-19-2631-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259569.5:c.3106A>C	p.Ile1036Leu	p.I1036L	ENST00000259569	NM_012416.3	1036	Att/Ctt	0			1			G	I/L	uc003zjr.2	protein_coding	YES	CCDS6467.1			3106/3318									ovary(3)	3	c.(3106-3108)ATT>CTT			Gene3D:1.25.10.10,hmmpanther:PTHR10527:SF16,hmmpanther:PTHR10527	RAN binding protein 6				ENSP00000259569		1-Jan									COSM2156390	1-Jan	.		ENST00000259569	Transcript			protein transport	cytoplasm|nucleus	binding	ENSG00000137040	g.chr9:6012502T>G	9851			MODERATE		-2.25	neutral	getma.org/?cm=msa&ty=f&p=RNBP6_HUMAN&rb=945&re=1105&var=I1036L	NA	getma.org/?cm=var&var=hg19,9,6012502,T,G&fts=all	I1036L	--	--	1																																		RANBP6_uc011lmf.1_Missense_Mutation_p.I684L|RANBP6_uc003zjs.2_Missense_Mutation_p.I624L	1	1		benign(0)	p.I1036L	NM_012416	NP_036548		tolerated(1)	1	RNBP6_HUMAN	RANBP6	HGNC	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	B4E340_HUMAN		1	3117	-		Acute lymphoblastic leukemia(23;0.158)	UPI000013D061	1036					SNV	RANBP6,missense_variant,p.Ile1036Leu,ENST00000259569,NM_012416.3,NM_001243203.1,NM_001243202.1;KIAA2026,upstream_gene_variant,,ENST00000399933,NM_001017969.2;KIAA2026,upstream_gene_variant,,ENST00000381461,;KIAA2026,upstream_gene_variant,,ENST00000513355,;MIR4665,downstream_gene_variant,,ENST00000581132,;RANBP6,downstream_gene_variant,,ENST00000485372,;	uc003zjr.2	c.3106A>C	3117/4576	4	4			c.3106A>C						9	SNP	c.(3106-3108)ATT>CTT	20	20			ovary(3)	3	Broad	RAN binding protein 6			6012502		0.368	ENSG00000137040	12821	g.chr9:6012502T>G	protein transport	cytoplasm|nucleus	binding							173.587353	KEEP	33	19	-1	39	31	33	19	-1	174.084746	39	31	0.428571	1	0	0	0	0	1	0	0	0	--	--		0	G			RANBP6_uc011lmf.1_Missense_Mutation_p.I684L|RANBP6_uc003zjs.2_Missense_Mutation_p.I624L	167	GBM-19-2631-TP	p.I1036L	T	TTTGGACCAATTACAACTGGG	NM_012416	NP_036548	6012502	O60518	RNBP6_HUMAN	0		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	3117	-	G	G		Acute lymphoblastic leukemia(23;0.158)	Missense_Mutation	1036						
RANGAP1	0	broad.mit.edu	GRCh37	22	41654011	41654011	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01	TCGA-16-1045-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356244.3:c.715C>T	p.Arg239Trp	p.R239W	ENST00000356244	NM_002883.3	239	Cgg/Tgg	0			1			A	R/W	uc003azs.2	protein_coding		CCDS14012.1			715/1764										0	c.(715-717)CGG>TGG			Superfamily_domains:SSF52047,SMART_domains:SM00368,Gene3D:3.80.10.10,Pfam_domain:PF13516,hmmpanther:PTHR24113,hmmpanther:PTHR24113:SF5	Ran GTPase activating protein 1				ENSP00000348577		16-Jul									COSM1223118	16-Jul	.		ENST00000356244	Transcript			mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	ENSG00000100401	g.chr22:41654011G>A	9854			MODERATE		3.01	medium	getma.org/?cm=msa&ty=f&p=RAGP1_HUMAN&rb=138&re=321&var=R239W	getma.org/pdb.php?prot=RAGP1_HUMAN&from=138&to=321&var=R239W	getma.org/?cm=var&var=hg19,22,41654011,G,A&fts=all	R239W	--	--	1																																		RANGAP1_uc003azt.2_Missense_Mutation_p.R239W|RANGAP1_uc003azu.2_Missense_Mutation_p.R239W|RANGAP1_uc011aoz.1_Missense_Mutation_p.R184W	1			possibly_damaging(0.871)	p.R239W	NM_002883	NP_002874		deleterious(0)	1	RAGP1_HUMAN	RANGAP1	HGNC	P46060	RAGP1_HUMAN			Q9BSK3_HUMAN,Q8WUS7_HUMAN,B4E0U0_HUMAN,B0QYT6_HUMAN,B0QYT5_HUMAN,B0QYT4_HUMAN		6	2185	-			UPI0000000DD9	239			LRR 4.		SNV	RANGAP1,missense_variant,p.Arg239Trp,ENST00000455915,;RANGAP1,missense_variant,p.Arg239Trp,ENST00000405486,NM_001278651.1;RANGAP1,missense_variant,p.Arg239Trp,ENST00000356244,NM_002883.3;RANGAP1,missense_variant,p.Arg184Trp,ENST00000407260,;RANGAP1,missense_variant,p.Arg135Trp,ENST00000446258,;	uc003azs.2	c.715C>T	1019/3060	2	2			c.715C>T						22	SNP	c.(715-717)CGG>TGG	42	42				0	Broad	Ran GTPase activating protein 1			41654011		0.627	ENSG00000100401	12823	g.chr22:41654011G>A	mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity							-27.420254	KEEP	4	0	-1	82	73	4	0	-1	7.118621	82	73	0.028369	1	0	0	0	0	1	0	0	0	--	--		0	A			RANGAP1_uc003azt.2_Missense_Mutation_p.R239W|RANGAP1_uc003azu.2_Missense_Mutation_p.R239W|RANGAP1_uc011aoz.1_Missense_Mutation_p.R184W	157	GBM-16-1045-TP	p.R239W	G	TTGATGACCCGCAGCAGGGGG	NM_002883	NP_002874	41654011	P46060	RAGP1_HUMAN	0			6	2185	-	A	A			Missense_Mutation	239			LRR 4.			
RANGAP1	0	broad.mit.edu	GRCh37	22	41652054	41652054	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356244.3:c.1044C>A	p.Phe348Leu	p.F348L	ENST00000356244	NM_002883.3	348	ttC/ttA	0			1			T	F/L	uc003azs.2	protein_coding		CCDS14012.1			1044/1764										0	c.(1042-1044)TTC>TTA			Superfamily_domains:SSF52047,Gene3D:3.80.10.10,hmmpanther:PTHR24113,hmmpanther:PTHR24113:SF5	Ran GTPase activating protein 1				ENSP00000348577		16-Oct									COSM3405690	16-Oct	.		ENST00000356244	Transcript			mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	ENSG00000100401	g.chr22:41652054G>T	9854			MODERATE		1.21	low	getma.org/?cm=msa&ty=f&p=RAGP1_HUMAN&rb=344&re=403&var=F348L	NA	getma.org/?cm=var&var=hg19,22,41652054,G,T&fts=all	F348L	--	--	1																																		RANGAP1_uc003azt.2_Missense_Mutation_p.F348L|RANGAP1_uc003azu.2_Missense_Mutation_p.F348L|RANGAP1_uc011aoz.1_Missense_Mutation_p.F293L	1			benign(0.001)	p.F348L	NM_002883	NP_002874		tolerated(0.49)	1	RAGP1_HUMAN	RANGAP1	HGNC	P46060	RAGP1_HUMAN			Q9BSK3_HUMAN,Q8WUS7_HUMAN,B4E0U0_HUMAN,B0QYT6_HUMAN,B0QYT5_HUMAN,B0QYT4_HUMAN		9	2514	-			UPI0000000DD9	348					SNV	RANGAP1,missense_variant,p.Phe348Leu,ENST00000455915,;RANGAP1,missense_variant,p.Phe348Leu,ENST00000405486,NM_001278651.1;RANGAP1,missense_variant,p.Phe348Leu,ENST00000356244,NM_002883.3;RANGAP1,missense_variant,p.Phe293Leu,ENST00000407260,;RANGAP1,missense_variant,p.Phe244Leu,ENST00000446258,;	uc003azs.2	c.1044C>A	1348/3060	1	1			c.1044C>A						22	SNP	c.(1042-1044)TTC>TTA	7	7				0	Broad	Ran GTPase activating protein 1			41652054		0.552	ENSG00000100401	12823	g.chr22:41652054G>T	mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity							-7.123708	KEEP	1	2	0.333333333	29	44	1	2	0.333333333	6.876173	29	44	0.046875	1	0	0	0	0	1	0	0	0	--	--		0	T			RANGAP1_uc003azt.2_Missense_Mutation_p.F348L|RANGAP1_uc003azu.2_Missense_Mutation_p.F348L|RANGAP1_uc011aoz.1_Missense_Mutation_p.F293L	160	GBM-19-1790-TP	p.F348L	G	TGGCCATGTTGAAGCCCTCCA	NM_002883	NP_002874	41652054	P46060	RAGP1_HUMAN	0			9	2514	-	T	T			Missense_Mutation	348						
RAP2A	0	broad.mit.edu	GRCh37	13	98086962	98086962	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-4208-01	TCGA-32-4208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245304.4:c.238C>G	p.Leu80Val	p.L80V	ENST00000245304	NM_021033.6	80	Ctc/Gtc	0			1			G	L/V	uc001vnd.2	protein_coding	YES	CCDS9485.1			238/552									central_nervous_system(1)	1	c.(238-240)CTC>GTC			Superfamily_domains:SSF52540,SMART_domains:SM00175,SMART_domains:SM00176,SMART_domains:SM00173,SMART_domains:SM00174,Gene3D:3.40.50.300,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF221,PROSITE_profiles:PS51421	RAP2A, member of RAS oncogene family precursor				ENSP00000245304		2-Jan									COSM3399473	2-Jan	.		ENST00000245304	Transcript			actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding	ENSG00000125249	g.chr13:98086962C>G	9861			MODERATE		1.745	low	getma.org/?cm=msa&ty=f&p=RAP2A_HUMAN&rb=5&re=166&var=L80V	getma.org/pdb.php?prot=RAP2A_HUMAN&from=5&to=166&var=L80V	getma.org/?cm=var&var=hg19,13,98086962,C,G&fts=all	L80V	--	--	1																																			1	1		probably_damaging(0.968)	p.L80V	NM_021033	NP_066361		tolerated(0.09)	1	RAP2A_HUMAN	RAP2A	HGNC	P10114	RAP2A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.166)				1	488	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		UPI0000001BC1	80					SNV	RAP2A,missense_variant,p.Leu80Val,ENST00000245304,NM_021033.6;RAP2A,missense_variant,p.Leu80Val,ENST00000476869,;	uc001vnd.2	c.238C>G	487/5487	3	3			c.238C>G						13	SNP	c.(238-240)CTC>GTC	57	57			central_nervous_system(1)	1	Broad	RAP2A, member of RAS oncogene family precursor			98086962		0.632	ENSG00000125249	12830	g.chr13:98086962C>G	actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding							165.653727	KEEP	28	33	-1	28	40	28	33	-1	165.842318	28	40	0.456897	1	0	0	0	0	1	0	0	0	--	--		0	G				243	GBM-32-4208-TP	p.L80V	C	GGGCTTCATCCTCGTCTACAG	NM_021033	NP_066361	98086962	P10114	RAP2A_HUMAN	0	BRCA - Breast invasive adenocarcinoma(86;0.166)		1	488	+	G	G	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		Missense_Mutation	80						
RAP2B	5912		GRCh37	3	152880771	152880771	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0151-01	TCGA-06-0151-01																				ENST00000323534.2:c.289C>T	p.Arg97Trp	p.R97W	ENST00000323534	NM_002886.3	97	Cgg/Tgg	0																																																																																																																																																																																																																																												
RAP2C	0	broad.mit.edu	GRCh37	X	131348336	131348336	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-87-5896-01	TCGA-87-5896-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342983.2:c.412T>G	p.Trp138Gly	p.W138G	ENST00000342983	NM_021183.4	138	Tgg/Ggg	0			1			C	W/G	uc004ewp.2	protein_coding	YES	CCDS14632.1			412/552									ovary(1)	1	c.(412-414)TGG>GGG			PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF200,hmmpanther:PTHR24070,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00173,Superfamily_domains:SSF52540	RAP2C, member of RAS oncogene family precursor				ENSP00000340274		4-Mar									COSM3405976	4-Mar	.		ENST00000342983	Transcript			negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	ENSG00000123728	g.chrX:131348336A>C	21165			MODERATE		2.37	medium	getma.org/?cm=msa&ty=f&p=RAP2C_HUMAN&rb=5&re=166&var=W138G	getma.org/pdb.php?prot=RAP2C_HUMAN&from=5&to=166&var=W138G	getma.org/?cm=var&var=hg19,X,131348336,A,C&fts=all	W138G	--	--	1																																		RAP2C_uc004ewo.2_Missense_Mutation_p.W72G|RAP2C_uc010nrk.2_RNA|RAP2C_uc004ewq.3_Missense_Mutation_p.W138G	1	1		probably_damaging(1)	p.W138G	NM_021183	NP_067006		deleterious(0)	1	RAP2C_HUMAN	RAP2C	HGNC	Q9Y3L5	RAP2C_HUMAN					3	1196	-	Acute lymphoblastic leukemia(192;0.000127)		UPI00000236AB	138					SNV	RAP2C,missense_variant,p.Trp138Gly,ENST00000342983,NM_021183.4,NM_001271187.1;RAP2C,missense_variant,p.Trp138Gly,ENST00000370874,NM_001271186.1;RAP2C-AS1,upstream_gene_variant,,ENST00000441399,;RAP2C-AS1,upstream_gene_variant,,ENST00000421483,;RAP2C,non_coding_transcript_exon_variant,,ENST00000460462,;RAP2C,downstream_gene_variant,,ENST00000490400,;	uc004ewp.2	c.412T>G	1159/3896	3	3			c.412T>G						23	SNP	c.(412-414)TGG>GGG	5	5			ovary(1)	1	Broad	RAP2C, member of RAS oncogene family precursor			131348336		0.438	ENSG00000123728	12832	g.chrX:131348336A>C	negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity							131.406694	KEEP	16	26	-1	30	38	16	26	-1	132.583372	30	38	0.383838	1	0	0	0	0	1	0	0	0	--	--		0	C			RAP2C_uc004ewo.2_Missense_Mutation_p.W72G|RAP2C_uc010nrk.2_RNA|RAP2C_uc004ewq.3_Missense_Mutation_p.W138G	291	GBM-87-5896-TP	p.W138G	A	GGACAGCCCCATTCTTGAGCC	NM_021183	NP_067006	131348336	Q9Y3L5	RAP2C_HUMAN	0			3	1196	-	C	C	Acute lymphoblastic leukemia(192;0.000127)		Missense_Mutation	138						
RAPGEF3	10411	broad.mit.edu	GRCh37	12	48143197	48143197	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-02-2470-01	TCGA-02-2470-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449771.2:c.1017G>T	p.Lys339Asn	p.K339N	ENST00000449771		339	aaG/aaT	0			1			A	K/N	uc009zkp.2	protein_coding		CCDS41775.1			1017/2772									lung(2)|skin(1)|pancreas(1)	4	c.(889-891)AAG>AAT			Gene3D:2.60.120.10,Pfam_domain:PF00027,PROSITE_profiles:PS50042,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF24,SMART_domains:SM00100,Superfamily_domains:SSF51206	Rap guanine nucleotide exchange factor 3 isoform				ENSP00000373864		29-Nov									COSM3398742,COSM3398743,COSM3398741	29-Nov	.		ENST00000389212	Transcript			regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	ENSG00000079337	g.chr12:48143197C>A	16629			MODERATE		2.575	medium	getma.org/?cm=msa&ty=f&p=RPGF3_HUMAN&rb=266&re=350&var=K339N	getma.org/pdb.php?prot=RPGF3_HUMAN&from=266&to=350&var=K339N	getma.org/?cm=var&var=hg19,12,48143197,C,A&fts=all	K339N	--	--	1																																		RAPGEF3_uc010sln.1_5'Flank|RAPGEF3_uc001rpy.2_5'Flank|RAPGEF3_uc009zkq.2_Missense_Mutation_p.K297N|RAPGEF3_uc001rpz.3_Missense_Mutation_p.K339N|RAPGEF3_uc001rqa.2_5'Flank|RAPGEF3_uc009zkr.2_RNA|RAPGEF3_uc009zks.2_Missense_Mutation_p.K351N|RAPGEF3_uc001rqb.3_Missense_Mutation_p.K339N	1,1,1			probably_damaging(0.994)	p.K297N	NM_001098532	NP_001092002		deleterious(0)	1,1,1	RPGF3_HUMAN	RAPGEF3	HGNC	A8K2G5	A8K2G5_HUMAN		GBM - Glioblastoma multiforme(48;0.0375)	F8W0N0_HUMAN,F8VXK1_HUMAN,B3KP15_HUMAN		9	1331	-	Lung SC(27;0.192)		UPI0000406B36	297					SNV	RAPGEF3,missense_variant,p.Lys297Asn,ENST00000405493,NM_001098532.2,NM_006105.5;RAPGEF3,missense_variant,p.Lys339Asn,ENST00000395358,;RAPGEF3,missense_variant,p.Lys297Asn,ENST00000171000,NM_001098531.2;RAPGEF3,missense_variant,p.Lys339Asn,ENST00000449771,;RAPGEF3,missense_variant,p.Lys339Asn,ENST00000389212,;RAPGEF3,missense_variant,p.Lys297Asn,ENST00000549151,;RAPGEF3,missense_variant,p.Lys297Asn,ENST00000548919,;RAPGEF3,downstream_gene_variant,,ENST00000466322,;RAPGEF3,downstream_gene_variant,,ENST00000495953,;SLC48A1,upstream_gene_variant,,ENST00000548498,;RAPGEF3,downstream_gene_variant,,ENST00000549347,;RAPGEF3,3_prime_UTR_variant,,ENST00000547856,;RAPGEF3,3_prime_UTR_variant,,ENST00000495465,;RAPGEF3,non_coding_transcript_exon_variant,,ENST00000479866,;RAPGEF3,non_coding_transcript_exon_variant,,ENST00000482843,;RAPGEF3,upstream_gene_variant,,ENST00000395360,;SLC48A1,upstream_gene_variant,,ENST00000552003,;RAPGEF3,upstream_gene_variant,,ENST00000494764,;	uc009zkp.2	c.891G>T	1229/3294	1	1			c.891G>T						12	SNP	c.(889-891)AAG>AAT	53	53			lung(2)|skin(1)|pancreas(1)	4	Broad	Rap guanine nucleotide exchange factor 3 isoform			48143197		0.562	ENSG00000079337	12835	g.chr12:48143197C>A	regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity							31.603118	KEEP	7	16	0.695652174	60	75	7	16	0.695652174	49.51942	60	75	0.13986	1	0	0	0	0	1	0	0	0	--	--		0	A			RAPGEF3_uc010sln.1_5'Flank|RAPGEF3_uc001rpy.2_5'Flank|RAPGEF3_uc009zkq.2_Missense_Mutation_p.K297N|RAPGEF3_uc001rpz.3_Missense_Mutation_p.K339N|RAPGEF3_uc001rqa.2_5'Flank|RAPGEF3_uc009zkr.2_RNA|RAPGEF3_uc009zks.2_Missense_Mutation_p.K351N|RAPGEF3_uc001rqb.3_Missense_Mutation_p.K339N	5	GBM-02-2470-TP	p.K297N	C	TGAAGTCCTGCTTGTCCACAC	NM_001098532	NP_001092002	48143197	A8K2G5	A8K2G5_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0375)	9	1331	-	A	A	Lung SC(27;0.192)		Missense_Mutation	297						
RAPGEF4	0	broad.mit.edu	GRCh37	2	173866027	173866027	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-6695-01	TCGA-06-6695-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397081.3:c.1613G>C	p.Cys538Ser	p.C538S	ENST00000397081	NM_007023.3	538	tGt/tCt	0			1			C	C/S	uc002uhv.3	protein_coding	YES	CCDS42775.1			1613/3036									large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6	c.(1612-1614)TGT>TCT			PROSITE_profiles:PS50212,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF175,Gene3D:2ii0A01,Pfam_domain:PF00618,SMART_domains:SM00229,Superfamily_domains:0041591	Rap guanine nucleotide exchange factor (GEF) 4				ENSP00000380271		17/31									COSM3407061,COSM3407062	17/31	.		ENST00000397081	Transcript			blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	ENSG00000091428	g.chr2:173866027G>C	16626			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=RPGF4_HUMAN&rb=499&re=605&var=C538S	getma.org/pdb.php?prot=RPGF4_HUMAN&from=499&to=605&var=C538S	getma.org/?cm=var&var=hg19,2,173866027,G,C&fts=all	C538S	--	--	1																																		RAPGEF4_uc002uhw.3_Missense_Mutation_p.C394S|RAPGEF4_uc010zec.1_Missense_Mutation_p.C385S|RAPGEF4_uc010zed.1_Missense_Mutation_p.C367S|RAPGEF4_uc010zee.1_Missense_Mutation_p.C385S|RAPGEF4_uc010fqo.2_Missense_Mutation_p.C367S|RAPGEF4_uc010zef.1_Missense_Mutation_p.C318S|RAPGEF4_uc010zeg.1_Missense_Mutation_p.C365S|RAPGEF4_uc010zeh.1_Missense_Mutation_p.C318S	1,1	1		benign(0.312)	p.C538S	NM_007023	NP_008954		tolerated(0.96)	1,1	RPGF4_HUMAN	RAPGEF4	HGNC	Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		Q53TH3_HUMAN,Q53QY2_HUMAN,B7Z283_HUMAN,B7Z278_HUMAN		17	1800	+			UPI000006D4C7	538			N-terminal Ras-GEF.		SNV	RAPGEF4,missense_variant,p.Cys537Ser,ENST00000264111,;RAPGEF4,missense_variant,p.Cys538Ser,ENST00000397081,NM_007023.3;RAPGEF4,missense_variant,p.Cys394Ser,ENST00000397087,NM_001100397.1,NM_001282899.1,NM_001282901.1;RAPGEF4,missense_variant,p.Cys538Ser,ENST00000409036,;RAPGEF4,missense_variant,p.Cys385Ser,ENST00000540783,;RAPGEF4,missense_variant,p.Cys385Ser,ENST00000539331,;RAPGEF4,missense_variant,p.Cys367Ser,ENST00000538974,NM_001282900.1;RAPGEF4,missense_variant,p.Cys318Ser,ENST00000535187,;	uc002uhv.3	c.1613G>C	1756/4299	3	3			c.1613G>C						2	SNP	c.(1612-1614)TGT>TCT	56	56			large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6	Broad	Rap guanine nucleotide exchange factor (GEF) 4			173866027		0.398	ENSG00000091428	12836	g.chr2:173866027G>C	blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity							118.329099	KEEP	24	19	-1	31	43	24	19	-1	119.805268	31	43	0.365591	1	0	0	0	0	1	0	0	0	--	--		0	C			RAPGEF4_uc002uhw.3_Missense_Mutation_p.C394S|RAPGEF4_uc010zec.1_Missense_Mutation_p.C385S|RAPGEF4_uc010zed.1_Missense_Mutation_p.C367S|RAPGEF4_uc010zee.1_Missense_Mutation_p.C385S|RAPGEF4_uc010fqo.2_Missense_Mutation_p.C367S|RAPGEF4_uc010zef.1_Missense_Mutation_p.C318S|RAPGEF4_uc010zeg.1_Missense_Mutation_p.C365S|RAPGEF4_uc010zeh.1_Missense_Mutation_p.C318S	110	GBM-06-6695-TP	p.C538S	G	ATGATGCACTGTGTTTTTATG	NM_007023	NP_008954	173866027	Q8WZA2	RPGF4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.194)		17	1800	+	C	C			Missense_Mutation	538			N-terminal Ras-GEF.			
RAPGEFL1	0	broad.mit.edu	GRCh37	17	38340589	38340589	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-4719-01	TCGA-32-4719-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000436615.3:c.105C>T	p.Gly35=	p.G35=	ENST00000436615	NM_016339.3	35	ggC/ggT	0			1			T	G	uc010cwu.1	protein_coding	YES	CCDS11363.1			105/1371									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(103-105)GGC>GGT			hmmpanther:PTHR23113:SF190,hmmpanther:PTHR23113,Superfamily_domains:0041591	Rap guanine nucleotide exchange factor				ENSP00000408322		15-Mar	8.24E-06			0.000116					rs772660012,COSM2157413	15-Mar	.		ENST00000436615	Transcript			G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity	ENSG00000108352	g.chr17:38340589C>T	17428			LOW								--	--	1																																			0,1	1			p.G35G	NM_016339	NP_057423			0,1	RPGFL_HUMAN	RAPGEFL1	HGNC	Q9UHV5	RPGFL_HUMAN			F5GYJ3_HUMAN,F5GY17_HUMAN,F5GXC6_HUMAN		3	595	+			UPI000006DB6B	241					SNV	RAPGEFL1,synonymous_variant,p.=,ENST00000436615,NM_016339.3;RAPGEFL1,synonymous_variant,p.=,ENST00000264644,;RAPGEFL1,synonymous_variant,p.=,ENST00000544503,;RAPGEFL1,synonymous_variant,p.=,ENST00000456989,;RAPGEFL1,synonymous_variant,p.=,ENST00000538981,;RAPGEFL1,synonymous_variant,p.=,ENST00000543876,;RAPGEFL1,downstream_gene_variant,,ENST00000538884,;RAPGEFL1,downstream_gene_variant,,ENST00000541245,;RAPGEFL1,non_coding_transcript_exon_variant,,ENST00000540388,;RAPGEFL1,upstream_gene_variant,,ENST00000545893,;RAPGEFL1,upstream_gene_variant,,ENST00000469209,;	uc010cwu.1	c.105C>T	595/3727	2	2			c.105C>T						17	SNP	c.(103-105)GGC>GGT	24	24			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	Rap guanine nucleotide exchange factor			38340589		0.587	ENSG00000108352	12839	g.chr17:38340589C>T	G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity	Esophageal Squamous(28;274 750 6870 14218 42203)			Esophageal Squamous(28;274 750 6870 14218 42203)			328.958954	KEEP	65	58	-1	77	82	65	58	-1	329.403394	77	82	0.452991	1	0	0	0	0	0	0	1	0	--	--		0	T				248	GBM-32-4719-TP	p.G35G	C	AGGGGGCCGGCCACATCATCA	NM_016339	NP_057423	38340589	Q9UHV5	RPGFL_HUMAN	0			3	595	+	T	T			Silent	241						
RAPH1	0	broad.mit.edu	GRCh37	2	204320201	204320201	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-41-3915-01	TCGA-41-3915-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319170.5:c.1261C>T	p.Arg421Ter	p.R421*	ENST00000319170	NM_213589.1	421	Cga/Tga	0			1			A	R/*	uc002vad.2	protein_coding	YES	CCDS2359.1			1261/3753									ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10	c.(1261-1263)CGA>TGA			PROSITE_profiles:PS50003,hmmpanther:PTHR11243,hmmpanther:PTHR11243:SF15,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729	Ras association and pleckstrin homology domains				ENSP00000316543		14-Sep									COSM3407498,COSM3407499	14-Sep	.		ENST00000319170	Transcript			cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		ENSG00000173166	g.chr2:204320201G>A	14436			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,204320201,G,A&fts=all	R421*	--	--	1																																		RAPH1_uc002vae.2_Nonsense_Mutation_p.R473*|RAPH1_uc002vaf.2_Nonsense_Mutation_p.R473*	1,1	1			p.R421*	NM_213589	NP_998754			1,1	RAPH1_HUMAN	RAPH1	HGNC	Q70E73	RAPH1_HUMAN			C9JLG4_HUMAN		9	1486	-			UPI000020940F	421			PH.		SNV	RAPH1,stop_gained,p.Arg421Ter,ENST00000319170,NM_213589.1;RAPH1,stop_gained,p.Arg473Ter,ENST00000374493,;RAPH1,stop_gained,p.Arg473Ter,ENST00000308091,NM_203365.2;RAPH1,stop_gained,p.Arg448Ter,ENST00000374489,;RAPH1,stop_gained,p.Arg446Ter,ENST00000374488,;RAPH1,stop_gained,p.Arg421Ter,ENST00000457812,;RAPH1,stop_gained,p.Arg473Ter,ENST00000453034,;RAPH1,stop_gained,p.Arg448Ter,ENST00000423104,;RAPH1,stop_gained,p.Arg446Ter,ENST00000439222,;RAPH1,stop_gained,p.Arg421Ter,ENST00000418114,;RAPH1,stop_gained,p.Arg421Ter,ENST00000419464,;	uc002vad.2	c.1261C>T	1561/9808	5	1			c.1261C>T						2	SNP	c.(1261-1263)CGA>TGA	50	50			ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10	Broad	Ras association and pleckstrin homology domains			204320201		0.383	ENSG00000173166	12840	g.chr2:204320201G>A	cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane								-65.615281	KEEP	7	9	-1	208	185	7	9	-1	20.483477	208	185	0.033149	1	0	0	0	0	0	1	0	0	--	--		0	A			RAPH1_uc002vae.2_Nonsense_Mutation_p.R473*|RAPH1_uc002vaf.2_Nonsense_Mutation_p.R473*	256	GBM-41-3915-TP	p.R421*	G	CCAGATGCTCGCAAGAGAAAA	NM_213589	NP_998754	204320201	Q70E73	RAPH1_HUMAN	0			9	1486	-	A	A			Nonsense_Mutation	421			PH.			
RARS	0	broad.mit.edu	GRCh37	5	167919770	167919770	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-27-2528-01	TCGA-27-2528-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000231572.3:c.287A>G	p.Glu96Gly	p.E96G	ENST00000231572	NM_002887.3	96	gAa/gGa	0			1			G	E/G	uc003lzx.2	protein_coding	YES	CCDS4367.1			287/1983									ovary(2)|skin(1)	3	c.(286-288)GAA>GGA			Superfamily_domains:SSF55190,SMART_domains:SM01016,Pfam_domain:PF03485,TIGRFAM_domain:TIGR00456,Gene3D:3.30.1360.70,hmmpanther:PTHR11956:SF1,hmmpanther:PTHR11956,HAMAP:MF_00123	arginyl-tRNA synthetase				ENSP00000231572		15-Mar									COSM3410115	15-Mar	.		ENST00000231572	Transcript			arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding	ENSG00000113643	g.chr5:167919770A>G	9870			MODERATE		1.315	low	getma.org/?cm=msa&ty=f&p=SYRC_HUMAN&rb=78&re=166&var=E96G	NA	getma.org/?cm=var&var=hg19,5,167919770,A,G&fts=all	E96G	--	--	1																																		RARS_uc011deo.1_5'UTR	1	1		benign(0.005)	p.E96G	NM_002887	NP_002878		tolerated(0.3)	1	SYRC_HUMAN	RARS	HGNC	P54136	SYRC_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)	F5H3T8_HUMAN		3	328	+	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	UPI0000136648	96					SNV	RARS,missense_variant,p.Glu96Gly,ENST00000231572,NM_002887.3;RARS,5_prime_UTR_variant,,ENST00000538719,;RARS,upstream_gene_variant,,ENST00000520421,;RARS,missense_variant,p.Glu96Gly,ENST00000520013,;RARS,missense_variant,p.Glu96Gly,ENST00000522834,;RARS,3_prime_UTR_variant,,ENST00000521329,;RARS,non_coding_transcript_exon_variant,,ENST00000519346,;RARS,non_coding_transcript_exon_variant,,ENST00000524082,;RARS,non_coding_transcript_exon_variant,,ENST00000521939,;RARS,upstream_gene_variant,,ENST00000518757,;	uc003lzx.2	c.287A>G	341/2146	3	3			c.287A>G						5	SNP	c.(286-288)GAA>GGA	2	2			ovary(2)|skin(1)	3	Broad	arginyl-tRNA synthetase			167919770		0.418	ENSG00000113643	12848	g.chr5:167919770A>G	arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding							-33.054081	KEEP	4	5	-1	107	102	4	5	-1	15.964811	107	102	0.033816	1	0	0	0	0	1	0	0	0	--	--		0	G			RARS_uc011deo.1_5'UTR	205	GBM-27-2528-TP	p.E96G	A	CCAGATTTGGAAAATCCTCCT	NM_002887	NP_002878	167919770	P54136	SYRC_HUMAN	0	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)	3	328	+	G	G	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Missense_Mutation	96						
RASA1	5921	broad.mit.edu	GRCh37	5	86659220	86659220	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-5415-01	TCGA-06-5415-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274376.6:c.1509A>G	p.Gln503=	p.Q503=	ENST00000274376	NM_002890.2	503	caA/caG	0			1			G	Q	uc003kiw.2	protein_coding	YES	CCDS34200.1			1509/3144									upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5	c.(1507-1509)CAA>CAG			Gene3D:2.30.29.30,Pfam_domain:PF00169,PROSITE_profiles:PS50003,hmmpanther:PTHR10194,SMART_domains:SM00233,Superfamily_domains:SSF50729	RAS p21 protein activator 1 isoform 1				ENSP00000274376		25-Nov									COSM2153241,COSM2153242	25-Nov	.		ENST00000274376	Transcript	1		cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	ENSG00000145715	g.chr5:86659220A>G	9871			LOW								--	--	1																																		RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Silent_p.Q326Q|RASA1_uc011ctv.1_Silent_p.Q336Q|RASA1_uc011ctw.1_Silent_p.Q337Q|RASA1_uc010jaw.2_Silent_p.Q325Q	1,1	1			p.Q503Q	NM_002890	NP_002881			1,1	RASA1_HUMAN	RASA1	HGNC	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	B4DTL8_HUMAN		11	1627	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	UPI00001351F3	503			PH.		SNV	RASA1,synonymous_variant,p.=,ENST00000456692,NM_022650.2;RASA1,synonymous_variant,p.=,ENST00000274376,NM_002890.2;RASA1,synonymous_variant,p.=,ENST00000512763,;RASA1,synonymous_variant,p.=,ENST00000506290,;RASA1,synonymous_variant,p.=,ENST00000515800,;RASA1,non_coding_transcript_exon_variant,,ENST00000509953,;	uc003kiw.2	c.1509A>G	2073/3752	3	3			c.1509A>G						5	SNP	c.(1507-1509)CAA>CAG	2	2			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5	Broad	RAS p21 protein activator 1 isoform 1			86659220		0.323	ENSG00000145715	12850	g.chr5:86659220A>G	cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			386			386	164.453049	KEEP	26	21	-1	53	23	26	21	-1	165.816955	53	23	0.384615	1	0	0	0	0	0	0	1	0	--	--		0	G			RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Silent_p.Q326Q|RASA1_uc011ctv.1_Silent_p.Q336Q|RASA1_uc011ctw.1_Silent_p.Q337Q|RASA1_uc010jaw.2_Silent_p.Q325Q	98	GBM-06-5415-TP	p.Q503Q	A	GTGATGCCCAACTTATTTATT	NM_002890	NP_002881	86659220	P20936	RASA1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	11	1627	+	G	G		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	Silent	503			PH.			
RASAL1	0	broad.mit.edu	GRCh37	12	113565893	113565893	+	stop_gained	Nonsense_Mutation	SNP	G	G	C			TCGA-12-0619-01	TCGA-12-0619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261729.5:c.213C>G	p.Tyr71Ter	p.Y71*	ENST00000261729		71	taC/taG	0			1			C	Y/*	uc001tum.1	protein_coding		CCDS9165.1			213/2415									ovary(2)|skin(2)	4	c.(211-213)TAC>TAG			PROSITE_profiles:PS50004,hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF3,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	RAS protein activator like 1				ENSP00000261729		22-Apr									COSM3398373	22-Apr	.		ENST00000261729	Transcript			intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	ENSG00000111344	g.chr12:113565893G>C	9873			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,12,113565893,G,C&fts=all	Y71*	--	--	1																																		RASAL1_uc010syp.1_Nonsense_Mutation_p.Y71*|RASAL1_uc001tul.2_Nonsense_Mutation_p.Y71*|RASAL1_uc001tun.1_Nonsense_Mutation_p.Y71*|RASAL1_uc010syq.1_Nonsense_Mutation_p.Y71*|RASAL1_uc001tuo.3_Nonsense_Mutation_p.Y71*|RASAL1_uc010syr.1_Nonsense_Mutation_p.Y71*	1				p.Y71*	NM_004658	NP_004649			1	RASL1_HUMAN	RASAL1	HGNC	O95294	RASL1_HUMAN					4	506	-			UPI00001FBBA8	71			C2 1.		SNV	RASAL1,stop_gained,p.Tyr71Ter,ENST00000546530,NM_004658.2,NM_001193520.1;RASAL1,stop_gained,p.Tyr71Ter,ENST00000261729,;RASAL1,stop_gained,p.Tyr71Ter,ENST00000446861,NM_001193521.1;RASAL1,stop_gained,p.Tyr71Ter,ENST00000548055,;RASAL1,non_coding_transcript_exon_variant,,ENST00000418411,;RASAL1,non_coding_transcript_exon_variant,,ENST00000548972,;RASAL1,intron_variant,,ENST00000547810,;RASAL1,non_coding_transcript_exon_variant,,ENST00000551051,;RASAL1,non_coding_transcript_exon_variant,,ENST00000546727,;	uc001tum.1	c.213C>G	529/3382	5	4			c.213C>G						12	SNP	c.(211-213)TAC>TAG	48	48			ovary(2)|skin(2)	4	Broad	RAS protein activator like 1			113565893		0.607	ENSG00000111344	12853	g.chr12:113565893G>C	intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity							-57.770255	KEEP	4	15	-1	285	267	4	15	-1	41.388042	285	267	0.037383	1	0	0	0	0	0	1	0	0	--	--		0	C			RASAL1_uc010syp.1_Nonsense_Mutation_p.Y71*|RASAL1_uc001tul.2_Nonsense_Mutation_p.Y71*|RASAL1_uc001tun.1_Nonsense_Mutation_p.Y71*|RASAL1_uc010syq.1_Nonsense_Mutation_p.Y71*|RASAL1_uc001tuo.3_Nonsense_Mutation_p.Y71*|RASAL1_uc010syr.1_Nonsense_Mutation_p.Y71*	120	GBM-12-0619-TP	p.Y71*	G	CATCCAGCACGTAGAAGGCCA	NM_004658	NP_004649	113565893	O95294	RASL1_HUMAN	0			4	506	-	C	C			Nonsense_Mutation	71			C2 1.			
RASAL2	9462		GRCh37	1	178427055	178427055	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000367649.3:c.2628A>T	p.Gly876=	p.G876=	ENST00000367649		876	ggA/ggT	0																																																																																																																																																																																																																																												
RASAL3	0	broad.mit.edu	GRCh37	19	15574925	15574925	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01	TCGA-76-4927-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343625.7:c.245G>A	p.Arg82His	p.R82H	ENST00000343625	NM_022904.1	82	cGc/cAc	0			1			T	R/H	uc002nbe.2	protein_coding	YES	CCDS46006.1			245/3036										0	c.(244-246)CGC>CAC			hmmpanther:PTHR10194:SF82,hmmpanther:PTHR10194	RAS protein activator like 3				ENSP00000341905		18-Feb									COSM3403861	18-Feb	.		ENST00000343625	Transcript			negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	ENSG00000105122	g.chr19:15574925C>T	26129			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=RASL3_HUMAN&rb=1&re=200&var=R82H	NA	getma.org/?cm=var&var=hg19,19,15574925,C,T&fts=all	R82H	--	--	1																																			1	1		benign(0.015)	p.R82H	NM_022904	NP_075055		tolerated(0.08)	1	RASL3_HUMAN	RASAL3	HGNC	Q86YV0	RASL3_HUMAN					2	331	-			UPI0000197831	82					SNV	RASAL3,missense_variant,p.Arg82His,ENST00000343625,NM_022904.1;PGLYRP2,downstream_gene_variant,,ENST00000292609,;PGLYRP2,downstream_gene_variant,,ENST00000340880,NM_052890.3;RASAL3,non_coding_transcript_exon_variant,,ENST00000602101,;	uc002nbe.2	c.245G>A	331/3293	2	2			c.245G>A						19	SNP	c.(244-246)CGC>CAC	30	30				0	Broad	RAS protein activator like 3			15574925		0.672	ENSG00000105122	12855	g.chr19:15574925C>T	negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity							43.698189	KEEP	7	13	-1	40	35	7	13	-1	50.634117	40	35	0.215054	1	0	0	0	0	1	0	0	0	--	--		0	T				267	GBM-76-4927-TP	p.R82H	C	GAGTCGAAGGCGACTGGTCCG	NM_022904	NP_075055	15574925	Q86YV0	RASL3_HUMAN	0			2	331	-	T	T			Missense_Mutation	82						
RASAL3	64926		GRCh37	19	15574925	15574925	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000343625.7:c.245G>A	p.Arg82His	p.R82H	ENST00000343625	NM_022904.1	82	cGc/cAc	0																																																																																																																																																																																																																																												
RASEF	158158	broad.mit.edu	GRCh37	9	85615141	85615141	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-2570-01	TCGA-06-2570-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376447.3:c.1666A>G	p.Ser556Gly	p.S556G	ENST00000376447	NM_152573.3	556	Agt/Ggt	0	C:0		1			C	S/G	uc004amo.1	protein_coding	YES	CCDS6662.1			1666/2223									upper_aerodigestive_tract(1)|lung(1)|breast(1)	3	c.(1666-1668)AGT>GGT			Gene3D:3.40.50.300,Pfam_domain:PF00071,Prints_domain:PR00449,PROSITE_profiles:PS51419,hmmpanther:PTHR22621,hmmpanther:PTHR22621:SF2,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231	RAS and EF-hand domain containing			C:0.0001	ENSP00000365630		17-Dec	8.24E-06					1.50E-05			rs375201668,COSM2153127	17-Dec	.		ENST00000376447	Transcript			protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	ENSG00000165105	g.chr9:85615141T>C	26464			MODERATE		3.86	high	getma.org/?cm=msa&ty=f&p=RASEF_HUMAN&rb=543&re=710&var=S556G	getma.org/pdb.php?prot=RASEF_HUMAN&from=543&to=710&var=S556G	getma.org/?cm=var&var=hg19,9,85615141,T,C&fts=all	S556G	--	--	1																																			0,1	1		probably_damaging(0.997)	p.S556G	NM_152573	NP_689786		deleterious(0)	0,1	RASEF_HUMAN	RASEF	HGNC	Q8IZ41	RASEF_HUMAN					12	1927	-			UPI0000074189	556					SNV	RASEF,missense_variant,p.Ser556Gly,ENST00000376447,NM_152573.3;	uc004amo.1	c.1666A>G	1927/5576	4	4			c.1666A>G						9	SNP	c.(1666-1668)AGT>GGT	45	45			upper_aerodigestive_tract(1)|lung(1)|breast(1)	3	Broad	RAS and EF-hand domain containing			85615141		0.458	ENSG00000165105	12858	g.chr9:85615141T>C	protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding							343.977825	KEEP	55	49	-1	61	63	55	49	-1	344.437405	61	63	0.449275	1	0	0	0	0	1	0	0	0	--	--		0	C				91	GBM-06-2570-TP	p.S556G	T	ATGAGGAAACTAGACTTCCCC	NM_152573	NP_689786	85615141	Q8IZ41	RASEF_HUMAN	0			12	1927	-	C	C			Missense_Mutation	556						
RASGRF1	5923	broad.mit.edu	GRCh37	15	79320175	79320175	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01	TCGA-06-0166-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000419573.3:c.1289C>T	p.Thr430Met	p.T430M	ENST00000419573	NM_002891.4	430	aCg/aTg	0			1			A	T/M	uc002beq.2	protein_coding	YES	CCDS10309.1			1289/3822									skin(4)|ovary(1)|central_nervous_system(1)	6	c.(1288-1290)ACG>ATG			hmmpanther:PTHR23113:SF193,hmmpanther:PTHR23113,Superfamily_domains:SSF48065	Ras protein-specific guanine				ENSP00000405963		28-Sep	8.24E-06					1.50E-05			rs769371347,COSM3401950	28-Sep	.		ENST00000419573	Transcript			activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	ENSG00000058335	g.chr15:79320175G>A	9875			MODERATE		2.535	medium	getma.org/?cm=msa&ty=f&p=RGRF1_HUMAN&rb=426&re=625&var=T430M	NA	getma.org/?cm=var&var=hg19,15,79320175,G,A&fts=all	T430M	--	--	1																																		RASGRF1_uc002bep.2_Missense_Mutation_p.T430M|RASGRF1_uc010blm.1_Missense_Mutation_p.T352M|RASGRF1_uc002ber.3_Missense_Mutation_p.T430M	0,1	1		probably_damaging(0.997)	p.T430M	NM_002891	NP_002882		deleterious(0)	0,1		RASGRF1	HGNC	Q13972	RGRF1_HUMAN			J3KQP9_HUMAN		9	1664	-			UPI000013D1F1	430					SNV	RASGRF1,missense_variant,p.Thr430Met,ENST00000419573,NM_002891.4;RASGRF1,missense_variant,p.Thr430Met,ENST00000558480,NM_001145648.1;RASGRF1,non_coding_transcript_exon_variant,,ENST00000560334,;	uc002beq.2	c.1289C>T	1564/6294	1	1			c.1289C>T						15	SNP	c.(1288-1290)ACG>ATG	51	51			skin(4)|ovary(1)|central_nervous_system(1)	6	Broad	Ras protein-specific guanine			79320175		0.547	ENSG00000058335	12862	g.chr15:79320175G>A	activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			694			694	77.315526	KEEP	23	24	-1	116	122	23	24	-1	103.68215	116	122	0.165323	1	0	0	0	0	1	0	0	0	--	--		0	A			RASGRF1_uc002bep.2_Missense_Mutation_p.T430M|RASGRF1_uc010blm.1_Missense_Mutation_p.T352M|RASGRF1_uc002ber.3_Missense_Mutation_p.T430M	31	GBM-06-0166-TP	p.T430M	G	GATGTTCTCCGTCTCACTTAC	NM_002891	NP_002882	79320175	Q13972	RGRF1_HUMAN	0			9	1664	-	A	A			Missense_Mutation	430						
RASGRF1	0	broad.mit.edu	GRCh37	15	79296158	79296158	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01	TCGA-41-3392-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000419573.3:c.2483C>T	p.Ala828Val	p.A828V	ENST00000419573	NM_002891.4	828	gCg/gTg	0			1			A	A/V	uc002beq.2	protein_coding	YES	CCDS10309.1			2483/3822									skin(4)|ovary(1)|central_nervous_system(1)	6	c.(2482-2484)GCG>GTG			hmmpanther:PTHR23113:SF193,hmmpanther:PTHR23113	Ras protein-specific guanine				ENSP00000405963		16/28	8.24E-06					1.58E-05			rs745726848,COSM3401949	16/28	.		ENST00000419573	Transcript			activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	ENSG00000058335	g.chr15:79296158G>A	9875			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=RGRF1_HUMAN&rb=787&re=986&var=A830V	NA	getma.org/?cm=var&var=hg19,15,79296158,G,A&fts=all	A830V	--	--	1																																		RASGRF1_uc002bep.2_Missense_Mutation_p.A812V|RASGRF1_uc010blm.1_Missense_Mutation_p.A737V|RASGRF1_uc002ber.3_Missense_Mutation_p.A812V|RASGRF1_uc010unh.1_Missense_Mutation_p.A223V|RASGRF1_uc002beo.2_Missense_Mutation_p.A44V	0,1	1		benign(0.002)	p.A828V	NM_002891	NP_002882		tolerated(0.55)	0,1		RASGRF1	HGNC	Q13972	RGRF1_HUMAN			J3KQP9_HUMAN		16	2858	-			UPI000013D1F1	830					SNV	RASGRF1,missense_variant,p.Ala828Val,ENST00000419573,NM_002891.4;RASGRF1,missense_variant,p.Ala812Val,ENST00000558480,NM_001145648.1;RASGRF1,missense_variant,p.Ala44Val,ENST00000394745,NM_153815.2;RASGRF1,non_coding_transcript_exon_variant,,ENST00000560334,;	uc002beq.2	c.2483C>T	2758/6294	2	2			c.2483C>T						15	SNP	c.(2482-2484)GCG>GTG	47	47			skin(4)|ovary(1)|central_nervous_system(1)	6	Broad	Ras protein-specific guanine			79296158		0.637	ENSG00000058335	12862	g.chr15:79296158G>A	activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity		p.A828V(SKUT1-Tumor)	694		p.A828V(SKUT1-Tumor)	694	124.772312	KEEP	33	15	-1	24	22	33	15	-1	124.772312	24	22	0.5	1	0	0	0	0	1	0	0	0	--	--		0	A			RASGRF1_uc002bep.2_Missense_Mutation_p.A812V|RASGRF1_uc010blm.1_Missense_Mutation_p.A737V|RASGRF1_uc002ber.3_Missense_Mutation_p.A812V|RASGRF1_uc010unh.1_Missense_Mutation_p.A223V|RASGRF1_uc002beo.2_Missense_Mutation_p.A44V	254	GBM-41-3392-TP	p.A828V	G	CTTGCTGAGCGCTGAAGGGTC	NM_002891	NP_002882	79296158	Q13972	RGRF1_HUMAN	0			16	2858	-	A	A			Missense_Mutation	830						
RASGRP1	10125		GRCh37	15	38818585	38818585	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000310803.5:c.241C>T	p.Arg81Ter	p.R81*	ENST00000310803	NM_005739.3	81	Cga/Tga	0																																																																																																																																																																																																																																												
RASGRP2	10235	broad.mit.edu	GRCh37	11	64497600	64497600	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-06-2559-01	TCGA-06-2559-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354024.3:c.1479del	p.Arg494AlafsTer25	p.R494Afs*25	ENST00000354024	NM_153819.1	493	ggG/gg	0			1			-	G/X	uc009ypu.2	protein_coding	YES	CCDS31598.1			1479/1830										0	c.(1477-1479)GGGfs				RAS guanyl releasing protein 2				ENSP00000338864		13/17									COSM1355755	13/17	.		ENST00000354024	Transcript	1		platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity	ENSG00000068831	g.chr11:64497600delC	9879			HIGH								--	--	1																																		RASGRP2_uc001oat.2_Frame_Shift_Del_p.G395fs|RASGRP2_uc001oau.2_Frame_Shift_Del_p.G348fs|RASGRP2_uc009ypv.2_Frame_Shift_Del_p.G493fs|RASGRP2_uc009ypw.2_Frame_Shift_Del_p.G493fs	1	1			p.G493fs	NM_001098671	NP_001092141			1	GRP2_HUMAN	RASGRP2	HGNC	Q7LDG7	GRP2_HUMAN			Q2YDB1_HUMAN,E7EM78_HUMAN,C9JZ82_HUMAN,A6NHE2_HUMAN		13	1706	-			UPI0000161186	493					deletion	RASGRP2,frameshift_variant,p.Arg494AlafsTer25,ENST00000377494,;RASGRP2,frameshift_variant,p.Arg494AlafsTer25,ENST00000354024,NM_153819.1;RASGRP2,frameshift_variant,p.Arg494AlafsTer25,ENST00000394432,NM_001098671.1;RASGRP2,frameshift_variant,p.Arg494AlafsTer25,ENST00000377497,NM_001098670.1;RASGRP2,3_prime_UTR_variant,,ENST00000421556,;RASGRP2,non_coding_transcript_exon_variant,,ENST00000464324,;RASGRP2,non_coding_transcript_exon_variant,,ENST00000488071,;RASGRP2,downstream_gene_variant,,ENST00000494001,;RASGRP2,downstream_gene_variant,,ENST00000497441,;	uc009ypu.2	c.1479delG	1732/2310	5	5			c.1479delG						11	DEL	c.(1477-1479)GGGfs	8	8				0	Broad	RAS guanyl releasing protein 2			64497600		0.642	ENSG00000068831	12865	g.chr11:64497600delC	platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity																				0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			RASGRP2_uc001oat.2_Frame_Shift_Del_p.G395fs|RASGRP2_uc001oau.2_Frame_Shift_Del_p.G348fs|RASGRP2_uc009ypv.2_Frame_Shift_Del_p.G493fs|RASGRP2_uc009ypw.2_Frame_Shift_Del_p.G493fs	83	GBM-06-2559-TP	p.G493fs	C	AGCCCATGCGCCCCCCCAACA	NM_001098671	NP_001092141	64497600	Q7LDG7	GRP2_HUMAN	0			13	1706	-	-	-			Frame_Shift_Del	493						
RASGRP4	115727		GRCh37	19	38909096	38909096	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000587738.1:c.772G>C	p.Val258Leu	p.V258L	ENST00000587738		258	Gtg/Ctg	0																																																																																																																																																																																																																																												
RASSF2	0	broad.mit.edu	GRCh37	20	4776462	4776462	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01	TCGA-19-2619-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379376.2:c.286G>A	p.Gly96Arg	p.G96R	ENST00000379376	NM_170774.1	96	Gga/Aga	0			1			T	G/R	uc002wld.2	protein_coding		CCDS13083.1			286/981									ovary(3)|lung(2)|large_intestine(1)	6	c.(286-288)GGA>AGA			hmmpanther:PTHR22738:SF14,hmmpanther:PTHR22738	Ras association domain family 2				ENSP00000368684		11-Apr									COSM2156140	11-Apr	.		ENST00000379376	Transcript			cell cycle|signal transduction	nucleus	protein binding	ENSG00000101265	g.chr20:4776462C>T	9883			MODERATE		1.225	low	getma.org/?cm=msa&ty=f&p=RASF2_HUMAN&rb=1&re=175&var=G96R	NA	getma.org/?cm=var&var=hg19,20,4776462,C,T&fts=all	G96R	--	--	1																																		RASSF2_uc002wlc.2_5'Flank|RASSF2_uc002wle.2_RNA|RASSF2_uc002wlf.2_Missense_Mutation_p.G96R	1			benign(0.014)	p.G96R	NM_170774	NP_739580		tolerated(0.17)	1	RASF2_HUMAN	RASSF2	HGNC	P50749	RASF2_HUMAN					4	340	-			UPI0000001C0A	96					SNV	RASSF2,missense_variant,p.Gly96Arg,ENST00000379400,NM_014737.2;RASSF2,missense_variant,p.Gly96Arg,ENST00000379376,NM_170774.1;RASSF2,upstream_gene_variant,,ENST00000478553,;	uc002wld.2	c.286G>A	340/5282	2	2			c.286G>A						20	SNP	c.(286-288)GGA>AGA	25	25			ovary(3)|lung(2)|large_intestine(1)	6	Broad	Ras association domain family 2			4776462		0.597	ENSG00000101265	12875	g.chr20:4776462C>T	cell cycle|signal transduction	nucleus	protein binding	Melanoma(158;1891 3343 50738)			Melanoma(158;1891 3343 50738)			214.332646	KEEP	41	32	-1	45	57	41	32	-1	214.80276	45	57	0.44	1	0	0	0	0	1	0	0	0	--	--		0	T			RASSF2_uc002wlc.2_5'Flank|RASSF2_uc002wle.2_RNA|RASSF2_uc002wlf.2_Missense_Mutation_p.G96R	161	GBM-19-2619-TP	p.G96R	C	CTCACTCACCCCTGAGCCCCC	NM_170774	NP_739580	4776462	P50749	RASF2_HUMAN	0			4	340	-	T	T			Missense_Mutation	96						
RASSF5	0	broad.mit.edu	GRCh37	1	206760184	206760184	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-41-3392-01	TCGA-41-3392-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355294.4:c.1131T>G	p.Leu377=	p.L377=	ENST00000355294	NM_182663.2	377	ctT/ctG	0			1			G	L	uc001hed.2	protein_coding	YES	CCDS30998.1			1131/1257									ovary(1)	1	c.(1129-1131)CTT>CTG			PROSITE_profiles:PS50951,hmmpanther:PTHR22738,hmmpanther:PTHR22738:SF9	Ras association (RalGDS/AF-6) domain family 5				ENSP00000347443		6-Jun									COSM3400240,COSM3400239,COSM3400241	6-Jun	.		ENST00000355294	Transcript			apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding	ENSG00000136653	g.chr1:206760184T>G	17609			LOW								--	--	1																																		RASSF5_uc001hec.1_3'UTR|RASSF5_uc001hee.2_3'UTR|RASSF5_uc001hef.2_Silent_p.L224L|RASSF5_uc001heg.1_3'UTR	1,1,1	1			p.L377L	NM_182663	NP_872604			1,1,1	RASF5_HUMAN	RASSF5	HGNC	Q8WWW0	RASF5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)				6	1188	+	Breast(84;0.183)		UPI0000072CF5	377			SARAH.		SNV	RASSF5,synonymous_variant,p.=,ENST00000304534,NM_182665.2;RASSF5,synonymous_variant,p.=,ENST00000355294,NM_182663.2;RASSF5,3_prime_UTR_variant,,ENST00000367117,NM_182664.2;EIF2D,downstream_gene_variant,,ENST00000271764,NM_006893.2;EIF2D,downstream_gene_variant,,ENST00000367114,NM_001201478.1;RASSF5,non_coding_transcript_exon_variant,,ENST00000491368,;RASSF5,non_coding_transcript_exon_variant,,ENST00000481486,;EIF2D,intron_variant,,ENST00000472709,;	uc001hed.2	c.1131T>G	1188/2048	3	3			c.1131T>G						1	SNP	c.(1129-1131)CTT>CTG	55	55			ovary(1)	1	Broad	Ras association (RalGDS/AF-6) domain family 5			206760184		0.458	ENSG00000136653	12878	g.chr1:206760184T>G	apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding	GBM(162;656 1984 11916 22872 31529)			GBM(162;656 1984 11916 22872 31529)			124.22715	KEEP	31	17	-1	106	92	31	17	-1	143.088681	106	92	0.2	1	0	0	0	0	0	0	1	0	--	--		0	G			RASSF5_uc001hec.1_3'UTR|RASSF5_uc001hee.2_3'UTR|RASSF5_uc001hef.2_Silent_p.L224L|RASSF5_uc001heg.1_3'UTR	254	GBM-41-3392-TP	p.L377L	T	TCCCTGAACTTCAGAACTTCC	NM_182663	NP_872604	206760184	Q8WWW0	RASF5_HUMAN	0	BRCA - Breast invasive adenocarcinoma(75;0.166)		6	1188	+	G	G	Breast(84;0.183)		Silent	377			SARAH.			
RASSF6	0	broad.mit.edu	GRCh37	4	74464408	74464408	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-32-4213-01	TCGA-32-4213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342081.3:c.189C>A	p.Thr63=	p.T63=	ENST00000342081	NM_201431.2	63	acC/acA	0			1			T	T	uc003hhd.1	protein_coding	YES	CCDS3558.1			189/1110									pancreas(2)	2	c.(187-189)ACC>ACA			hmmpanther:PTHR22738,hmmpanther:PTHR22738:SF3	Ras association (RalGDS/AF-6) domain family 6				ENSP00000340578		11-Mar	8.26E-06		0.000143						rs755189760,COSM3409475,COSM3409476	11-Mar	.		ENST00000342081	Transcript			apoptosis|signal transduction		protein binding	ENSG00000169435	g.chr4:74464408G>T	20796			LOW								--	--	1																																		RASSF6_uc003hhc.1_Silent_p.T31T|RASSF6_uc010iik.1_Silent_p.T31T|RASSF6_uc010iil.1_Intron	0,1,1	1			p.T63T	NM_201431	NP_958834			0,1,1	RASF6_HUMAN	RASSF6	HGNC	Q6ZTQ3	RASF6_HUMAN	all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)				3	312	-	Breast(15;0.00102)		UPI00001C0C6F	63					SNV	RASSF6,synonymous_variant,p.=,ENST00000307439,NM_001270391.1,NM_177532.4;RASSF6,synonymous_variant,p.=,ENST00000342081,NM_201431.2;RASSF6,synonymous_variant,p.=,ENST00000395777,;RASSF6,intron_variant,,ENST00000335049,NM_001270392.1;	uc003hhd.1	c.189C>A	320/4331	2	2			c.189C>A						4	SNP	c.(187-189)ACC>ACA	32	32			pancreas(2)	2	Broad	Ras association (RalGDS/AF-6) domain family 6			74464408		0.269	ENSG00000169435	12879	g.chr4:74464408G>T	apoptosis|signal transduction		protein binding							7.517967	KEEP	1	3	0.25	1	9	1	3	0.25	8.381651	1	9	0.230769	1	0	0	0	0	0	0	1	0	--	--		0	T			RASSF6_uc003hhc.1_Silent_p.T31T|RASSF6_uc010iik.1_Silent_p.T31T|RASSF6_uc010iil.1_Intron	247	GBM-32-4213-TP	p.T63T	G	AAATGTTATAGGTCTTCAATA	NM_201431	NP_958834	74464408	Q6ZTQ3	RASF6_HUMAN	0	all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		3	312	-	T	T	Breast(15;0.00102)		Silent	63						
RASSF6	0	broad.mit.edu	GRCh37	4	74477540	74477540	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-76-6192-01	TCGA-76-6192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342081.3:c.69C>A	p.Ser23=	p.S23=	ENST00000342081	NM_201431.2	23	tcC/tcA	0			1			T	S	uc003hhd.1	protein_coding	YES	CCDS3558.1			69/1110									pancreas(2)	2	c.(67-69)TCC>TCA				Ras association (RalGDS/AF-6) domain family 6				ENSP00000340578		11-Feb									COSM3409477	11-Feb	.		ENST00000342081	Transcript			apoptosis|signal transduction		protein binding	ENSG00000169435	g.chr4:74477540G>T	20796			LOW								--	--	1																																		RASSF6_uc003hhc.1_5'UTR|RASSF6_uc010iik.1_5'UTR|RASSF6_uc010iil.1_Intron	1	1			p.S23S	NM_201431	NP_958834			1	RASF6_HUMAN	RASSF6	HGNC	Q6ZTQ3	RASF6_HUMAN	all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)				2	192	-	Breast(15;0.00102)		UPI00001C0C6F	23					SNV	RASSF6,synonymous_variant,p.=,ENST00000342081,NM_201431.2;RASSF6,5_prime_UTR_variant,,ENST00000307439,NM_001270391.1,NM_177532.4;RASSF6,5_prime_UTR_variant,,ENST00000395777,;RASSF6,intron_variant,,ENST00000335049,NM_001270392.1;RASSF6,non_coding_transcript_exon_variant,,ENST00000512591,;	uc003hhd.1	c.69C>A	200/4331	1	1			c.69C>A						4	SNP	c.(67-69)TCC>TCA	3	3			pancreas(2)	2	Broad	Ras association (RalGDS/AF-6) domain family 6			74477540		0.343	ENSG00000169435	12879	g.chr4:74477540G>T	apoptosis|signal transduction		protein binding							59.046998	KEEP	13	12	0.52	37	58	13	12	0.52	67.483004	37	58	0.214286	1	0	0	0	0	0	0	1	0	--	--		0	T			RASSF6_uc003hhc.1_5'UTR|RASSF6_uc010iik.1_5'UTR|RASSF6_uc010iil.1_Intron	275	GBM-76-6192-TP	p.S23S	G	GATGGTCTGAGGATATCCTAA	NM_201431	NP_958834	74477540	Q6ZTQ3	RASF6_HUMAN	0	all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		2	192	-	T	T	Breast(15;0.00102)		Silent	23						
RASSF6	166824		GRCh37	4	74442417	74442417	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000342081.3:c.849G>A	p.Pro283=	p.P283=	ENST00000342081	NM_201431.2	283	ccG/ccA	0																																																																																																																																																																																																																																												
RASSF9	0	broad.mit.edu	GRCh37	12	86199652	86199652	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5960-01	TCGA-19-5960-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361228.3:c.136C>T	p.Arg46Cys	p.R46C	ENST00000361228	NM_005447.3	46	Cgc/Tgc	0			1			A	R/C	uc001taf.1	protein_coding	YES	CCDS44950.1			136/1308									ovary(1)	1	c.(136-138)CGC>TGC			PROSITE_profiles:PS50200,hmmpanther:PTHR15286,hmmpanther:PTHR15286:SF10,SMART_domains:SM00314,Superfamily_domains:SSF54236	Ras association (RalGDS/AF-6) domain family				ENSP00000354884		2-Feb	8.27E-06					1.50E-05			rs750233982,COSM3399159,COSM3399160	2-Feb	.		ENST00000361228	Transcript			endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	ENSG00000198774	g.chr12:86199652G>A	15739			MODERATE		2.43	medium	getma.org/?cm=msa&ty=f&p=RASF9_HUMAN&rb=25&re=119&var=R46C	getma.org/pdb.php?prot=RASF9_HUMAN&from=25&to=119&var=R46C	getma.org/?cm=var&var=hg19,12,86199652,G,A&fts=all	R46C	--	--	1																																			0,1,1	1		probably_damaging(0.95)	p.R46C	NM_005447	NP_005438		deleterious(0)	0,1,1	RASF9_HUMAN	RASSF9	HGNC	O75901	RASF9_HUMAN					2	475	-			UPI000003E7E4	46			Ras-associating.		SNV	RASSF9,missense_variant,p.Arg46Cys,ENST00000361228,NM_005447.3;	uc001taf.1	c.136C>T	505/1826	2	2			c.136C>T						12	SNP	c.(136-138)CGC>TGC	34	34			ovary(1)	1	Broad	Ras association (RalGDS/AF-6) domain family			86199652		0.453	ENSG00000198774	12882	g.chr12:86199652G>A	endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity							132.985456	KEEP	19	27	-1	28	34	19	27	-1	133.207952	28	34	0.44898	1	0	0	0	0	1	0	0	0	--	--		0	A				178	GBM-19-5960-TP	p.R46C	G	GAGGTGGTGCGTTTAGTCAGC	NM_005447	NP_005438	86199652	O75901	RASF9_HUMAN	0			2	475	-	A	A			Missense_Mutation	46			Ras-associating.			
RASSF9	0	broad.mit.edu	GRCh37	12	86199112	86199112	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-6285-01	TCGA-76-6285-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361228.3:c.676G>C	p.Asp226His	p.D226H	ENST00000361228	NM_005447.3	226	Gat/Cat	0			1			G	D/H	uc001taf.1	protein_coding	YES	CCDS44950.1			676/1308									ovary(1)	1	c.(676-678)GAT>CAT			hmmpanther:PTHR15286,hmmpanther:PTHR15286:SF10	Ras association (RalGDS/AF-6) domain family				ENSP00000354884		2-Feb									COSM3399157,COSM3399158	2-Feb	.		ENST00000361228	Transcript			endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	ENSG00000198774	g.chr12:86199112C>G	15739			MODERATE		0.525	neutral	getma.org/?cm=msa&ty=f&p=RASF9_HUMAN&rb=201&re=309&var=D226H	NA	getma.org/?cm=var&var=hg19,12,86199112,C,G&fts=all	D226H	--	--	1																																			1,1	1		benign(0.006)	p.D226H	NM_005447	NP_005438		tolerated(0.52)	1,1	RASF9_HUMAN	RASSF9	HGNC	O75901	RASF9_HUMAN					2	1015	-			UPI000003E7E4	226			Potential.		SNV	RASSF9,missense_variant,p.Asp226His,ENST00000361228,NM_005447.3;	uc001taf.1	c.676G>C	1045/1826	3	3			c.676G>C						12	SNP	c.(676-678)GAT>CAT	61	61			ovary(1)	1	Broad	Ras association (RalGDS/AF-6) domain family			86199112		0.398	ENSG00000198774	12882	g.chr12:86199112C>G	endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity							-31.845264	KEEP	1	4	-1	66	117	1	4	-1	9.345452	66	117	0.02439	1	0	0	0	0	1	0	0	0	--	--		0	G				280	GBM-76-6285-TP	p.D226H	C	TTTTCTCCATCATTTTCTACT	NM_005447	NP_005438	86199112	O75901	RASF9_HUMAN	0			2	1015	-	G	G			Missense_Mutation	226			Potential.			
RAVER1	125950	broad.mit.edu	GRCh37	19	10434237	10434237	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0188-01	TCGA-06-0188-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000293677.6:c.813G>A	p.Ala271=	p.A271=	ENST00000293677	NM_133452.2	271	gcG/gcA	0		T:0.0008	1	T:0		T	A	uc002moa.2	protein_coding	YES	CCDS45960.1			813/2271									ovary(1)	1	c.(811-813)GCG>GCA			hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF46,Gene3D:3.30.70.330,Pfam_domain:PF14259,SMART_domains:SM00360,Superfamily_domains:SSF54928	RAVER1		T:0		ENSP00000293677	T:0	13-Apr	8.25E-06	0.000114							rs550383395,COSM2150560,COSM2150559	13-Apr	.		ENST00000293677	Transcript		T:0.0002		cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	ENSG00000161847	g.chr19:10434237C>T	30296			LOW								--	--	1																																			0,1,1	1			p.A271A	NM_133452	NP_597709	T:0		0,1,1		RAVER1	HGNC	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		K7EQG2_HUMAN,E9PAU2_HUMAN		4	893	-			UPI0000E042A4	254			RRM 3.		SNV	RAVER1,synonymous_variant,p.=,ENST00000293677,NM_133452.2;RAVER1,upstream_gene_variant,,ENST00000585935,;RAVER1,3_prime_UTR_variant,,ENST00000591969,;RAVER1,non_coding_transcript_exon_variant,,ENST00000592208,;CTD-2369P2.12,upstream_gene_variant,,ENST00000586529,;RAVER1,upstream_gene_variant,,ENST00000593136,;	uc002moa.2	c.813G>A	895/3595	1	1			c.813G>A						19	SNP	c.(811-813)GCG>GCA	16	16			ovary(1)	1	Broad	RAVER1			10434237		0.652	ENSG00000161847	12883	g.chr19:10434237C>T		cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding							39.250112	KEEP	11	5	-1	11	12	11	5	-1	39.478999	11	12	0.411765	1	0	0	0	0	0	0	1	0	--	--		0	T				41	GBM-06-0188-TP	p.A271A	C	CCTGGCCGCACGCCAGCTGCC	NM_133452	NP_597709	10434237	Q8IY67	RAVR1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		4	893	-	T	T			Silent	254			RRM 3.			
RAVER1	0	broad.mit.edu	GRCh37	19	10444148	10444148	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-0615-01	TCGA-12-0615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000293677.6:c.87G>A	p.Pro29=	p.P29=	ENST00000293677	NM_133452.2	29	ccG/ccA	0			1			T	P	uc002moa.2	protein_coding	YES	CCDS45960.1			87/2271									ovary(1)	1	c.(85-87)CCG>CCA			hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF46	RAVER1				ENSP00000293677		13-Jan	8.30E-06					1.60E-05			rs748016374,COSM3403717,COSM3403716	13-Jan	.		ENST00000293677	Transcript				cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	ENSG00000161847	g.chr19:10444148C>T	30296			LOW								--	--	1																																			0,1,1	1			p.P29P	NM_133452	NP_597709			0,1,1		RAVER1	HGNC	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		K7EQG2_HUMAN,E9PAU2_HUMAN		1	167	-			UPI0000E042A4	12					SNV	RAVER1,synonymous_variant,p.=,ENST00000293677,NM_133452.2;ICAM3,downstream_gene_variant,,ENST00000589261,;ICAM3,downstream_gene_variant,,ENST00000160262,NM_002162.3;ICAM3,downstream_gene_variant,,ENST00000592439,;ICAM3,downstream_gene_variant,,ENST00000592945,;ICAM3,downstream_gene_variant,,ENST00000590569,;ICAM3,downstream_gene_variant,,ENST00000589249,;RAVER1,synonymous_variant,p.=,ENST00000591969,;RAVER1,non_coding_transcript_exon_variant,,ENST00000592208,;ICAM3,downstream_gene_variant,,ENST00000587992,;ICAM3,downstream_gene_variant,,ENST00000589900,;ICAM3,downstream_gene_variant,,ENST00000585439,;	uc002moa.2	c.87G>A	169/3595	2	2			c.87G>A						19	SNP	c.(85-87)CCG>CCA	46	46			ovary(1)	1	Broad	RAVER1			10444148		0.692	ENSG00000161847	12883	g.chr19:10444148C>T		cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding							-4.913049	KEEP	2	1	-1	24	38	2	1	-1	6.303424	24	38	0.055556	1	0	0	0	0	0	0	1	0	--	--		0	T				117	GBM-12-0615-TP	p.P29P	C	TAGGGCTCAGCGGGGGCCGGT	NM_133452	NP_597709	10444148	Q8IY67	RAVR1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		1	167	-	T	T			Silent	12						
RAVER1	0	broad.mit.edu	GRCh37	19	10434234	10434234	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5951-01	TCGA-19-5951-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000293677.6:c.816C>T	p.Cys272=	p.C272=	ENST00000293677	NM_133452.2	272	tgC/tgT	0			1			A	C	uc002moa.2	protein_coding	YES	CCDS45960.1			816/2271									ovary(1)	1	c.(814-816)TGC>TGT			hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF46,Gene3D:3.30.70.330,Pfam_domain:PF14259,SMART_domains:SM00360,Superfamily_domains:SSF54928	RAVER1				ENSP00000293677		13-Apr	8.25E-06		8.85E-05						rs751621218,COSM3403715,COSM3403714	13-Apr	.		ENST00000293677	Transcript				cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	ENSG00000161847	g.chr19:10434234G>A	30296			LOW								--	--	1																																			0,1,1	1			p.C272C	NM_133452	NP_597709			0,1,1		RAVER1	HGNC	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		K7EQG2_HUMAN,E9PAU2_HUMAN		4	896	-			UPI0000E042A4	255			RRM 3.		SNV	RAVER1,synonymous_variant,p.=,ENST00000293677,NM_133452.2;RAVER1,upstream_gene_variant,,ENST00000585935,;RAVER1,3_prime_UTR_variant,,ENST00000591969,;RAVER1,non_coding_transcript_exon_variant,,ENST00000592208,;CTD-2369P2.12,upstream_gene_variant,,ENST00000586529,;RAVER1,upstream_gene_variant,,ENST00000593136,;	uc002moa.2	c.816C>T	898/3595	2	2			c.816C>T						19	SNP	c.(814-816)TGC>TGT	36	36			ovary(1)	1	Broad	RAVER1			10434234		0.667	ENSG00000161847	12883	g.chr19:10434234G>A		cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding							119.957783	KEEP	20	22	-1	9	20	20	22	-1	120.543818	9	20	0.603175	1	0	0	0	0	0	0	1	0	--	--		0	A				171	GBM-19-5951-TP	p.C272C	G	CATCCTGGCCGCACGCCAGCT	NM_133452	NP_597709	10434234	Q8IY67	RAVR1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		4	896	-	A	A			Silent	255			RRM 3.			
RAVER1	0	broad.mit.edu	GRCh37	19	10434234	10434234	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000293677.6:c.816C>T	p.Cys272=	p.C272=	ENST00000293677	NM_133452.2	272	tgC/tgT	0			1			A	C	uc002moa.2	protein_coding	YES	CCDS45960.1			816/2271									ovary(1)	1	c.(814-816)TGC>TGT			hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF46,Gene3D:3.30.70.330,Pfam_domain:PF14259,SMART_domains:SM00360,Superfamily_domains:SSF54928	RAVER1				ENSP00000293677		13-Apr	8.25E-06		8.85E-05						rs751621218,COSM3403715,COSM3403714	13-Apr	.		ENST00000293677	Transcript				cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	ENSG00000161847	g.chr19:10434234G>A	30296			LOW								--	--	1																																			0,1,1	1			p.C272C	NM_133452	NP_597709			0,1,1		RAVER1	HGNC	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		K7EQG2_HUMAN,E9PAU2_HUMAN		4	896	-			UPI0000E042A4	255			RRM 3.		SNV	RAVER1,synonymous_variant,p.=,ENST00000293677,NM_133452.2;RAVER1,upstream_gene_variant,,ENST00000585935,;RAVER1,3_prime_UTR_variant,,ENST00000591969,;RAVER1,non_coding_transcript_exon_variant,,ENST00000592208,;CTD-2369P2.12,upstream_gene_variant,,ENST00000586529,;RAVER1,upstream_gene_variant,,ENST00000593136,;	uc002moa.2	c.816C>T	898/3595	2	2			c.816C>T						19	SNP	c.(814-816)TGC>TGT	36	36			ovary(1)	1	Broad	RAVER1			10434234		0.667	ENSG00000161847	12883	g.chr19:10434234G>A		cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding							12.350001	KEEP	2	6	-1	20	21	2	6	-1	15.262042	20	21	0.1875	1	0	0	0	0	0	0	1	0	--	--		0	A				235	GBM-32-2491-TP	p.C272C	G	CATCCTGGCCGCACGCCAGCT	NM_133452	NP_597709	10434234	Q8IY67	RAVR1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		4	896	-	A	A			Silent	255			RRM 3.			
RAVER1	0	broad.mit.edu	GRCh37	19	10434119	10434119	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000293677.6:c.931G>A	p.Val311Ile	p.V311I	ENST00000293677	NM_133452.2	311	Gtc/Atc	0			1			T	V/I	uc002moa.2	protein_coding	YES	CCDS45960.1			931/2271									ovary(1)	1	c.(931-933)GTC>ATC			hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF46,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928	RAVER1				ENSP00000293677		13-Apr									COSM3403713,COSM3403712	13-Apr	.		ENST00000293677	Transcript				cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	ENSG00000161847	g.chr19:10434119C>T	30296			MODERATE		2.505	medium	getma.org/?cm=msa&ty=f&p=RAVR1_HUMAN&rb=221&re=299&var=V294I	getma.org/pdb.php?prot=RAVR1_HUMAN&from=221&to=299&var=V294I	getma.org/?cm=var&var=hg19,19,10434119,C,T&fts=all	V294I	--	--	1																																			1,1	1		benign(0.006)	p.V311I	NM_133452	NP_597709		deleterious(0.03)	1,1		RAVER1	HGNC	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		K7EQG2_HUMAN,E9PAU2_HUMAN		4	1011	-			UPI0000E042A4	294			RRM 3.		SNV	RAVER1,missense_variant,p.Val311Ile,ENST00000293677,NM_133452.2;RAVER1,upstream_gene_variant,,ENST00000585935,;RAVER1,non_coding_transcript_exon_variant,,ENST00000592208,;CTD-2369P2.12,upstream_gene_variant,,ENST00000586529,;RAVER1,downstream_gene_variant,,ENST00000591969,;RAVER1,upstream_gene_variant,,ENST00000593136,;	uc002moa.2	c.931G>A	1013/3595	2	2			c.931G>A						19	SNP	c.(931-933)GTC>ATC	45	45			ovary(1)	1	Broad	RAVER1			10434119		0.716	ENSG00000161847	12883	g.chr19:10434119C>T		cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding							16.252687	KEEP	2	5	-1	10	5	2	5	-1	16.691182	10	5	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	T				265	GBM-76-4925-TP	p.V311I	C	CAGAAGGAGACTCGCAGGTGG	NM_133452	NP_597709	10434119	Q8IY67	RAVR1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		4	1011	-	T	T			Missense_Mutation	294			RRM 3.			
RB1	5925	broad.mit.edu	GRCh37	13	49033967	49033967	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	T			TCGA-02-0033-01	TCGA-02-0033-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267163.4:c.2104C>T	p.Gln702Ter	p.Q702*	ENST00000267163	NM_000321.2	702	Caa/Taa	0			1			T	Q/*	uc001vcb.2	protein_coding	YES	CCDS31973.1		6	2104/2787	D|Mis|N|F|S			retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			p.?(7)|p.Q702*(2)|p.Q702K(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	c.(2104-2106)CAA>TAA			hmmpanther:PTHR13742,Pfam_domain:PF01857,Gene3D:1.10.472.10,SMART_domains:SM00385,Superfamily_domains:SSF47954	retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)			ENSP00000267163		20/27									COSM22911,COSM1942410	20/27	.	Hereditary_Retinoblastoma	ENST00000267163	Transcript	1		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	ENSG00000139687	g.chr13:49033967C>T	9884			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,13,49033967,C,T&fts=all	Q702*	--	--	1				TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																															1,1	1			p.Q702*	NM_000321	NP_000312			1,1	RB_HUMAN	RB1	HGNC	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN		20	2270	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	UPI0000001C79	702			Pocket; binds T and E1A.|Domain B.		SNV	RB1,stop_gained,p.Gln702Ter,ENST00000267163,NM_000321.2;RB1,downstream_gene_variant,,ENST00000480491,;	uc001vcb.2	c.2104C>T	2242/4840	5	2		6	c.2104C>T	D|Mis|N|F|S			retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung	13	SNP	c.(2104-2106)CAA>TAA	46	46		p.?(7)|p.Q702*(2)|p.Q702K(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	Broad	retinoblastoma 1		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	49033967	Hereditary_Retinoblastoma	0.343	ENSG00000139687	12887	g.chr13:49033967C>T	androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding		p.Q702*(HT1376-Tumor)	568		p.Q702*(HT1376-Tumor)	568	43.608363	KEEP	4	14	-1	30	31	4	14	-1	48.239019	30	31	0.24	1	0	0	0	0	0	1	0	0	--	--	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)	0	T				2	GBM-02-0033-TP	p.Q702*	C	GCATTTGGACCAAGTAAGAAA	NM_000321	NP_000312	49033967	P06400	RB_HUMAN	0		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	20	2270	+	T	T		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	Nonsense_Mutation	702			Pocket; binds T and E1A.|Domain B.			
RB1	5925	broad.mit.edu	GRCh37	13	49039505	49039505	+	splice_donor_variant	Splice_Site	SNP	G	G	T			TCGA-06-0130-01	TCGA-06-0130-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267163.4:c.2489+1G>T		p.X830_splice	ENST00000267163	NM_000321.2	830		0			1			T		uc001vcb.2	protein_coding	YES	CCDS31973.1		6	2489/2787	D|Mis|N|F|S			retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			p.?(7)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	c.e23+1				retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)			ENSP00000267163											COSM2149551,COSM2149550		.	Hereditary_Retinoblastoma	ENST00000267163	Transcript	1		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	ENSG00000139687	g.chr13:49039505G>T	9884			HIGH	23/26							--	--	1				TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																															1,1	1			p.R830_splice	NM_000321	NP_000312			1,1	RB_HUMAN	RB1	HGNC	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN		23	2655	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	UPI0000001C79						SNV	RB1,splice_donor_variant,,ENST00000267163,NM_000321.2;	uc001vcb.2	c.2489_splice	-/4840	5	2		6	c.2489_splice	D|Mis|N|F|S			retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung	13	SNP	c.e23+1	28	28		p.?(7)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	Broad	retinoblastoma 1		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	49039505	Hereditary_Retinoblastoma	0.358	ENSG00000139687	12887	g.chr13:49039505G>T	androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding			568			568	51.157509	KEEP	12	7	0.631578947	30	19	12	7	0.631578947	53.999128	30	19	0.274194	1	0	0	0	0	0	0	0	1	--	--	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)	0	T				16	GBM-06-0130-TP	p.R830_splice	G	CAAGATCAAGGTGTGTGTTTT	NM_000321	NP_000312	49039505	P06400	RB_HUMAN	0		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	23	2655	+	T	T		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	Splice_Site							
RB1	5925	broad.mit.edu	GRCh37	13	49033823	49033823	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T			TCGA-06-0184-01	TCGA-06-0184-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267163.4:c.1961-1G>T		p.X654_splice	ENST00000267163	NM_000321.2	654		0			1			T		uc001vcb.2	protein_coding	YES	CCDS31973.1		6	1961/2787	D|Mis|N|F|S			retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			p.?(10)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	c.e20-1				retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)			ENSP00000267163											COSM35350,COSM1559420		.	Hereditary_Retinoblastoma	ENST00000267163	Transcript	1		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	ENSG00000139687	g.chr13:49033823G>T	9884			HIGH	19/26							--	--	1				TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																															1,1	1			p.V654_splice	NM_000321	NP_000312			1,1	RB_HUMAN	RB1	HGNC	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN		20	2127	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	UPI0000001C79						SNV	RB1,splice_acceptor_variant,,ENST00000267163,NM_000321.2;RB1,downstream_gene_variant,,ENST00000480491,;	uc001vcb.2	c.1961_splice	-/4840	5	2		6	c.1961_splice	D|Mis|N|F|S			retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung	13	SNP	c.e20-1	41	41		p.?(10)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	Broad	retinoblastoma 1		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	49033823	Hereditary_Retinoblastoma	0.363	ENSG00000139687	12887	g.chr13:49033823G>T	androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding			568			568	58.945652	KEEP	20	25	0.444444444	38	48	20	25	0.444444444	61.595338	38	48	0.295775	1	0	0	0	0	0	0	0	1	--	--	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)	0	T				39	GBM-06-0184-TP	p.V654_splice	G	TATTCCCACAGTGTATCGGCT	NM_000321	NP_000312	49033823	P06400	RB_HUMAN	0		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	20	2127	+	T	T		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	Splice_Site							
RB1	5925	broad.mit.edu	GRCh37	13	49030485	49030485	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0213-01	TCGA-06-0213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267163.4:c.1960G>C	p.Val654Leu	p.V654L	ENST00000267163	NM_000321.2	654	Gtg/Ctg	0			1			C	V/L	uc001vcb.2	protein_coding	YES	CCDS31973.1		6	1960/2787	D|Mis|N|F|S			retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			p.?(6)|p.V654fs*4(1)|p.V654fs*6(1)|p.V654L(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	c.(1960-1962)GTG>CTG			hmmpanther:PTHR13742,Pfam_domain:PF01857,Gene3D:1.10.472.10,Superfamily_domains:SSF47954	retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)			ENSP00000267163		19/27									COSM35800,COSM2150876	19/27	.	Hereditary_Retinoblastoma	ENST00000267163	Transcript	1		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	ENSG00000139687	g.chr13:49030485G>C	9884			MODERATE		0.83	low	getma.org/?cm=msa&ty=f&p=RB_HUMAN&rb=645&re=766&var=V654L	getma.org/pdb.php?prot=RB_HUMAN&from=645&to=766&var=V654L	getma.org/?cm=var&var=hg19,13,49030485,G,C&fts=all	V654L	--	--	1				TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																															1,1	1		probably_damaging(0.994)	p.V654L	NM_000321	NP_000312		tolerated(0.35)	1,1	RB_HUMAN	RB1	HGNC	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN		19	2126	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	UPI0000001C79	654		V -> E (in RB).	Pocket; binds T and E1A.|Domain B.		SNV	RB1,missense_variant,p.Val654Leu,ENST00000267163,NM_000321.2;RB1,downstream_gene_variant,,ENST00000480491,;	uc001vcb.2	c.1960G>C	2098/4840	4	4		6	c.1960G>C	D|Mis|N|F|S			retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung	13	SNP	c.(1960-1962)GTG>CTG	44	44		p.?(6)|p.V654fs*4(1)|p.V654fs*6(1)|p.V654L(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	Broad	retinoblastoma 1		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	49030485	Hereditary_Retinoblastoma	0.229	ENSG00000139687	12887	g.chr13:49030485G>C	androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding		p.V654M(MPP89-Tumor)	568		p.V654M(MPP89-Tumor)	568	35.691781	KEEP	9	6	-1	10	10	9	6	-1	36.038469	10	10	0.387097	1	0	0	0	0	1	0	0	0	--	--	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)	0	C				49	GBM-06-0213-TP	p.V654L	G	TTATAAAAAAGGTTAGTAGAT	NM_000321	NP_000312	49030485	P06400	RB_HUMAN	0		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	19	2126	+	C	C		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	Missense_Mutation	654		V -> E (in RB).	Pocket; binds T and E1A.|Domain B.			
RB1	5925	broad.mit.edu	GRCh37	13	48947629	48947629	+	splice_donor_variant	Splice_Site	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267163.4:c.1215+1G>A		p.X405_splice	ENST00000267163	NM_000321.2	405		0			1			A		uc001vcb.2	protein_coding	YES	CCDS31973.1		6	1215/2787	D|Mis|N|F|S			retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung	pathogenic		p.?(14)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	c.e12+1				retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)			ENSP00000267163			8.24E-06					1.50E-05			rs587776783,COSM1029,COSM1015,COSM1152654		.	Hereditary_Retinoblastoma	ENST00000267163	Transcript	1		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	ENSG00000139687	g.chr13:48947629G>A	9884			HIGH	26-Dec							--	--	1				TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																														RB1_uc010act.1_Splice_Site_p.N106_splice	1,1,1,1	1			p.N405_splice	NM_000321	NP_000312			0,1,1,1	RB_HUMAN	RB1	HGNC	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN		12	1381	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	UPI0000001C79						SNV	RB1,splice_donor_variant,,ENST00000267163,NM_000321.2;	uc001vcb.2	c.1215_splice	-/4840	5	1		6	c.1215_splice	D|Mis|N|F|S			retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung	13	SNP	c.e12+1	52	52		p.?(14)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	Broad	retinoblastoma 1		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	48947629	Hereditary_Retinoblastoma	0.264	ENSG00000139687	12887	g.chr13:48947629G>A	androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding			568			568	265.572509	KEEP	37	53	-1	11	21	37	53	-1	271.112583	11	21	0.736364	1	0	0	0	0	0	0	0	1	--	--	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)	0	A			RB1_uc010act.1_Splice_Site_p.N106_splice	102	GBM-06-5858-TP	p.N405_splice	G	CTATTTTAACGTAAGCCATAT	NM_000321	NP_000312	48947629	P06400	RB_HUMAN	0		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	12	1381	+	A	A		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	Splice_Site							
RB1	0	broad.mit.edu	GRCh37	13	48916734	48916734	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A			TCGA-06-6698-01	TCGA-06-6698-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267163.4:c.265-1G>A		p.X89_splice	ENST00000267163	NM_000321.2			0			1			A		uc001vcb.2	protein_coding	YES	CCDS31973.1		6	265/2787	D|Mis|N|F|S			retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			p.?(2)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	c.e3-1				retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)			ENSP00000267163											COSM39409,COSM1942261		.	Hereditary_Retinoblastoma	ENST00000267163	Transcript	1		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	ENSG00000139687	g.chr13:48916734G>A	9884			HIGH	26-Feb							--	--	1				TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																														RB1_uc010acs.1_Intron	1,1	1			p.G89_splice	NM_000321	NP_000312			1,1	RB_HUMAN	RB1	HGNC	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN		3	431	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	UPI0000001C79						SNV	RB1,splice_acceptor_variant,,ENST00000267163,NM_000321.2;RB1,splice_acceptor_variant,,ENST00000525036,;RB1,intron_variant,,ENST00000467505,;	uc001vcb.2	c.265_splice	-/4840	5	2		6	c.265_splice	D|Mis|N|F|S			retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung	13	SNP	c.e3-1	23	23		p.?(2)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	Broad	retinoblastoma 1		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	48916734	Hereditary_Retinoblastoma	0.318	ENSG00000139687	12887	g.chr13:48916734G>A	androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding		(NCIH2029-Tumor)|(CORL95-Tumor)	568		(NCIH2029-Tumor)|(CORL95-Tumor)	568	26.414483	KEEP	8	11	-1	59	55	8	11	-1	41.362659	59	55	0.136752	1	0	0	0	0	0	0	0	1	--	--	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)	0	A			RB1_uc010acs.1_Intron	112	GBM-06-6698-TP	p.G89_splice	G	TTTGTTCCCAGGGAGGTTATA	NM_000321	NP_000312	48916734	P06400	RB_HUMAN	0		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	3	431	+	A	A		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	Splice_Site							
RB1	0	broad.mit.edu	GRCh37	13	48955560	48955563	+	frameshift_variant	Frame_Shift_Del	DEL	AATC	AATC	-			TCGA-19-2623-01	TCGA-19-2623-01	AATC	AATC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267163.4:c.1676_1679delAATC	p.Glu559AlafsTer51	p.E559Afs*51	ENST00000267163	NM_000321.2	559	gAATCc/gc	0			1			-	ES/X	uc001vcb.2	protein_coding	YES	CCDS31973.1		6	1676-1679/2787	D|Mis|N|F|S			retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			p.?(7)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	c.(1675-1680)GAATCCfs			hmmpanther:PTHR13742,Pfam_domain:PF01858,Gene3D:1.10.472.10,Superfamily_domains:SSF47954	retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)			ENSP00000267163		17/27										17/27	.	Hereditary_Retinoblastoma	ENST00000267163	Transcript	1		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	ENSG00000139687	g.chr13:48955560_48955563delAATC	9884			HIGH								--	--	1				TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																																1			p.E559fs	NM_000321	NP_000312				RB_HUMAN	RB1	HGNC	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN		17	1842_1845	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	UPI0000001C79	559_560			Domain A.|Pocket; binds T and E1A.		deletion	RB1,frameshift_variant,p.Glu559AlafsTer51,ENST00000267163,NM_000321.2;	uc001vcb.2	c.1676_1679delAATC	1814-1817/4840	5	5		6	c.1676_1679delAATC	D|Mis|N|F|S			retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung	13	DEL	c.(1675-1680)GAATCCfs	33	33		p.?(7)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	Broad	retinoblastoma 1		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	48955563	Hereditary_Retinoblastoma	0.328	ENSG00000139687	12887	g.chr13:48955560_48955563delAATC	androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding			568			568														0.57	1	1	0	1	0	0	0	0	0	--	--	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)	0	-				163	GBM-19-2623-TP	p.E559fs	AATC	CGAATCATGGAATCCCTTGCATGG	NM_000321	NP_000312	48955560	P06400	RB_HUMAN	0		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	17	1842_1845	+	-	-		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	Frame_Shift_Del	559_560			Domain A.|Pocket; binds T and E1A.			
RB1	0	broad.mit.edu	GRCh37	13	48919325	48919332	+	frameshift_variant	Frame_Shift_Del	DEL	AAATTGGA	AAATTGGA	-	rs66624868		TCGA-19-2625-01	TCGA-19-2625-01	AAATTGGA	AAATTGGA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267163.4:c.492_499delATTGGAAA	p.Leu165AspfsTer3	p.L165Dfs*3	ENST00000267163	NM_000321.2	164	AAATTGGAa/a	0			1			-	KLE/X	uc001vcb.2	protein_coding	YES	CCDS31973.1		6	490-497/2787	D|Mis|N|F|S			retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			p.?(5)|p.E166*(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	c.(490-498)AAATTGGAAfs			hmmpanther:PTHR13742,Pfam_domain:PF11934	retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)			ENSP00000267163		27-Apr										27-Apr	.	Hereditary_Retinoblastoma	ENST00000267163	Transcript	1		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	ENSG00000139687	g.chr13:48919325_48919332delAAATTGGA	9884	2		HIGH								--	--	1				TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																														RB1_uc010acs.1_Intron		1			p.K164fs	NM_000321	NP_000312				RB_HUMAN	RB1	HGNC	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN		4	656_663	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	UPI0000001C79	164_166					deletion	RB1,frameshift_variant,p.Leu165AspfsTer3,ENST00000267163,NM_000321.2;RB1,non_coding_transcript_exon_variant,,ENST00000525036,;RB1,intron_variant,,ENST00000467505,;	uc001vcb.2	c.490_497delAAATTGGA	628-635/4840	5	5		6	c.490_497delAAATTGGA	D|Mis|N|F|S			retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung	13	DEL	c.(490-498)AAATTGGAAfs	64	64		p.?(5)|p.E166*(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	Broad	retinoblastoma 1		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	48919332	Hereditary_Retinoblastoma	0.284	ENSG00000139687	12887	g.chr13:48919325_48919332delAAATTGGA	androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding		p.E166*(NCIH2227-Tumor)	568		p.E166*(NCIH2227-Tumor)	568														0.1	1	1	0	1	0	0	0	0	0	--	--	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)	0	-			RB1_uc010acs.1_Intron	165	GBM-19-2625-TP	p.K164fs	AAATTGGA	ACTCTTCAGCAAATTGGAAAGGTAAAGT	NM_000321	NP_000312	48919325	P06400	RB_HUMAN	0		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	4	656_663	+	-	-		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	Frame_Shift_Del	164_166						
RB1	0	broad.mit.edu	GRCh37	13	48951053	48951053	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C			TCGA-27-2524-01	TCGA-27-2524-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267163.4:c.1216-1G>C		p.X406_splice	ENST00000267163	NM_000321.2			0			1			C		uc001vcb.2	protein_coding	YES	CCDS31973.1		6	1216/2787	D|Mis|N|F|S			retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			p.?(10)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	c.e13-1				retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)			ENSP00000267163											COSM69449,COSM3399395		.	Hereditary_Retinoblastoma	ENST00000267163	Transcript	1		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	ENSG00000139687	g.chr13:48951053G>C	9884			HIGH	26-Dec							--	--	1				TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																														RB1_uc010act.1_Splice_Site_p.N107_splice	1,1	1			p.N406_splice	NM_000321	NP_000312			1,1	RB_HUMAN	RB1	HGNC	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN		13	1382	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	UPI0000001C79						SNV	RB1,splice_acceptor_variant,,ENST00000267163,NM_000321.2;	uc001vcb.2	c.1216_splice	-/4840	5	4		6	c.1216_splice	D|Mis|N|F|S			retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung	13	SNP	c.e13-1	33	33		p.?(10)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	Broad	retinoblastoma 1		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	48951053	Hereditary_Retinoblastoma	0.318	ENSG00000139687	12887	g.chr13:48951053G>C	androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding		(CORL88-Tumor)	568		(CORL88-Tumor)	568	-5.839543	KEEP	4	5	-1	51	47	4	5	-1	14.682805	51	47	0.059406	1	0	0	0	0	0	0	0	1	--	--	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)	0	C			RB1_uc010act.1_Splice_Site_p.N107_splice	202	GBM-27-2524-TP	p.N406_splice	G	ACCTCCTAAAGAACTGCACAG	NM_000321	NP_000312	48951053	P06400	RB_HUMAN	0		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	13	1382	+	C	C		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	Splice_Site							
RB1	0	broad.mit.edu	GRCh37	13	49039351	49039351	+	stop_gained	Nonsense_Mutation	SNP	T	T	A			TCGA-32-1970-01	TCGA-32-1970-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267163.4:c.2336T>A	p.Leu779Ter	p.L779*	ENST00000267163	NM_000321.2	779	tTg/tAg	0			1			A	L/*	uc001vcb.2	protein_coding	YES	CCDS31973.1		6	2336/2787	D|Mis|N|F|S			retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			p.?(7)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	c.(2335-2337)TTG>TAG			hmmpanther:PTHR13742,Gene3D:1.10.472.10,Pfam_domain:PF08934,Superfamily_domains:SSF47954	retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)			ENSP00000267163		23/27									COSM3399399,COSM3399398	23/27	.	Hereditary_Retinoblastoma	ENST00000267163	Transcript	1		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	ENSG00000139687	g.chr13:49039351T>A	9884			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,13,49039351,T,A&fts=all	L779*	--	--	1				TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																															1,1	1			p.L779*	NM_000321	NP_000312			1,1	RB_HUMAN	RB1	HGNC	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN		23	2502	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	UPI0000001C79	779			Interaction with LIMD1.|Domain C; mediates interaction with E4F1.		SNV	RB1,stop_gained,p.Leu779Ter,ENST00000267163,NM_000321.2;	uc001vcb.2	c.2336T>A	2474/4840	5	2		6	c.2336T>A	D|Mis|N|F|S			retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung	13	SNP	c.(2335-2337)TTG>TAG	30	30		p.?(7)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	Broad	retinoblastoma 1		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	49039351	Hereditary_Retinoblastoma	0.398	ENSG00000139687	12887	g.chr13:49039351T>A	androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding			568			568	486.024505	KEEP	66	108	-1	31	26	66	108	-1	496.112167	31	26	0.737374	1	0	0	0	0	0	1	0	0	--	--	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)	0	A				228	GBM-32-1970-TP	p.L779*	T	CCCCCTACCTTGTCACCAATA	NM_000321	NP_000312	49039351	P06400	RB_HUMAN	0		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	23	2502	+	A	A		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	Nonsense_Mutation	779			Interaction with LIMD1.|Domain C; mediates interaction with E4F1.			
RB1	0	broad.mit.edu	GRCh37	13	48955550	48955550	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs121913304		TCGA-32-2491-01	TCGA-32-2491-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267163.4:c.1666C>T	p.Arg556Ter	p.R556*	ENST00000267163	NM_000321.2	556	Cga/Tga	0			1			T	R/*	uc001vcb.2	protein_coding	YES	CCDS31973.1		6	1666/2787	D|Mis|N|F|S			retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung	pathogenic		p.?(7)|p.R556*(5)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	c.(1666-1668)CGA>TGA			hmmpanther:PTHR13742,Pfam_domain:PF01858,Gene3D:1.10.472.10,Superfamily_domains:SSF47954	retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)			ENSP00000267163		17/27									rs121913304,COSM888,COSM1367249	17/27	.	Hereditary_Retinoblastoma	ENST00000267163	Transcript	1		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	ENSG00000139687	g.chr13:48955550C>T	9884			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,13,48955550,C,T&fts=all	R556*	--	--	1				TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																															1,1,1	1			p.R556*	NM_000321	NP_000312			0,1,1	RB_HUMAN	RB1	HGNC	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN		17	1832	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	UPI0000001C79	556			Domain A.|Pocket; binds T and E1A.		SNV	RB1,stop_gained,p.Arg556Ter,ENST00000267163,NM_000321.2;	uc001vcb.2	c.1666C>T	1804/4840	5	1		6	c.1666C>T	D|Mis|N|F|S			retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung	13	SNP	c.(1666-1668)CGA>TGA	11	11		p.?(7)|p.R556*(5)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	Broad	retinoblastoma 1		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	48955550	Hereditary_Retinoblastoma	0.333	ENSG00000139687	12887	g.chr13:48955550C>T	androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding			568			568	28.771227	KEEP	6	5	-1	6	8	6	5	-1	28.929997	6	8	0.409091	1	0	0	0	0	0	1	0	0	--	--	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)	0	T				235	GBM-32-2491-TP	p.R556*	C	ATGTGAACATCGAATCATGGA	NM_000321	NP_000312	48955550	P06400	RB_HUMAN	0		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	17	1832	+	T	T		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	Nonsense_Mutation	556			Domain A.|Pocket; binds T and E1A.			
RB1	0	broad.mit.edu	GRCh37	13	48941711	48941711	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-32-2632-01	TCGA-32-2632-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267163.4:c.1024delA	p.Thr342LeufsTer7	p.T342Lfs*7	ENST00000267163	NM_000321.2	341	Aaa/aa	0			1			-	K/X	uc001vcb.2	protein_coding	YES	CCDS31973.1		6	1021/2787	D|Mis|N|F|S			retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			p.?(6)|p.D340fs*5(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	c.(1021-1023)AAAfs			hmmpanther:PTHR13742	retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)			ENSP00000267163		27-Oct										27-Oct	.	Hereditary_Retinoblastoma	ENST00000267163	Transcript	1		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	ENSG00000139687	g.chr13:48941711delA	9884	3		HIGH								--	--	1				TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																														RB1_uc010act.1_Frame_Shift_Del_p.K42fs		1			p.K341fs	NM_000321	NP_000312				RB_HUMAN	RB1	HGNC	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN		10	1187	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	UPI0000001C79	341					deletion	RB1,frameshift_variant,p.Thr342LeufsTer7,ENST00000267163,NM_000321.2;RB1,downstream_gene_variant,,ENST00000467505,;	uc001vcb.2	c.1021delA	1159/4840	5	5		6	c.1021delA	D|Mis|N|F|S			retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung	13	DEL	c.(1021-1023)AAAfs	48	48		p.?(6)|p.D340fs*5(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	Broad	retinoblastoma 1		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	48941711	Hereditary_Retinoblastoma	0.279	ENSG00000139687	12887	g.chr13:48941711delA	androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding		p.K341fs(42MGBA-Tumor)	568		p.K341fs(42MGBA-Tumor)	568														0.31	1	1	0	1	0	0	0	0	0	--	--	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)	0	-			RB1_uc010act.1_Frame_Shift_Del_p.K42fs	240	GBM-32-2632-TP	p.K341fs	A	GGATCATGATAAAACTCTTCA	NM_000321	NP_000312	48941711	P06400	RB_HUMAN	0		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	10	1187	+	-	-		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	Frame_Shift_Del	341						
RB1	0	broad.mit.edu	GRCh37	13	49039230	49039230	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-32-2634-01	TCGA-32-2634-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267163.4:c.2308C>T	p.Gln770Ter	p.Q770*	ENST00000267163	NM_000321.2	770	Cag/Tag	0			1			T	Q/*	uc001vcb.2	protein_coding	YES	CCDS31973.1		6	2308/2787	D|Mis|N|F|S			retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			p.?(8)|p.L769fs*2(1)|p.Q770fs*24(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	c.(2308-2310)CAG>TAG			hmmpanther:PTHR13742,Gene3D:1.10.472.10,Pfam_domain:PF08934,Superfamily_domains:SSF47954	retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)			ENSP00000267163		22/27									COSM3399397,COSM3399396	22/27	.	Hereditary_Retinoblastoma	ENST00000267163	Transcript	1		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	ENSG00000139687	g.chr13:49039230C>T	9884			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,13,49039230,C,T&fts=all	Q770*	--	--	1				TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																															1,1	1			p.Q770*	NM_000321	NP_000312			1,1	RB_HUMAN	RB1	HGNC	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN		22	2474	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	UPI0000001C79	770			Interaction with LIMD1.|Pocket; binds T and E1A.|Domain B.		SNV	RB1,stop_gained,p.Gln770Ter,ENST00000267163,NM_000321.2;	uc001vcb.2	c.2308C>T	2446/4840	5	1		6	c.2308C>T	D|Mis|N|F|S			retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung	13	SNP	c.(2308-2310)CAG>TAG	6	6		p.?(8)|p.L769fs*2(1)|p.Q770fs*24(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	Broad	retinoblastoma 1		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	49039230	Hereditary_Retinoblastoma	0.323	ENSG00000139687	12887	g.chr13:49039230C>T	androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding			568			568	146.3039	KEEP	24	24	-1	9	1	24	24	-1	151.532714	9	1	0.818182	1	0	0	0	0	0	1	0	0	--	--	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)	0	T				241	GBM-32-2634-TP	p.Q770*	C	AAATATTTTGCAGTATGCTTC	NM_000321	NP_000312	49039230	P06400	RB_HUMAN	0		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	22	2474	+	T	T		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	Nonsense_Mutation	770			Interaction with LIMD1.|Pocket; binds T and E1A.|Domain B.			
RB1	0	broad.mit.edu	GRCh37	13	48954327	48954328	+	frameshift_variant	Frame_Shift_Del	DEL	AT	AT	-	rs5803433		TCGA-32-4213-01	TCGA-32-4213-01	AT	AT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267163.4:c.1450_1451delAT	p.Met484ValfsTer8	p.M484Vfs*8	ENST00000267163	NM_000321.2	483	cAT/c	0			1			-	H/X	uc001vcb.2	protein_coding	YES	CCDS31973.1		6	1448-1449/2787	D|Mis|N|F|S			retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			p.?(7)|p.H483fs*9(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	c.(1447-1449)CATfs			hmmpanther:PTHR13742,Pfam_domain:PF01858,Gene3D:1.10.472.10,Superfamily_domains:SSF47954	retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)			ENSP00000267163		16/27										16/27	.	Hereditary_Retinoblastoma	ENST00000267163	Transcript	1		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	ENSG00000139687	g.chr13:48954327_48954328delAT	9884	2		HIGH								--	--	1				TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																																1			p.H483fs	NM_000321	NP_000312				RB_HUMAN	RB1	HGNC	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN		16	1614_1615	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	UPI0000001C79	483			Domain A.|Pocket; binds T and E1A.		deletion	RB1,frameshift_variant,p.Met484ValfsTer8,ENST00000267163,NM_000321.2;	uc001vcb.2	c.1448_1449delAT	1586-1587/4840	5	5		6	c.1448_1449delAT	D|Mis|N|F|S			retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung	13	DEL	c.(1447-1449)CATfs	2	2		p.?(7)|p.H483fs*9(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	Broad	retinoblastoma 1		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	48954328	Hereditary_Retinoblastoma	0.203	ENSG00000139687	12887	g.chr13:48954327_48954328delAT	androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding			568			568														0.47	1	1	0	1	0	0	0	0	0	--	--	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)	0	-				247	GBM-32-4213-TP	p.H483fs	AT	AACATTTTTCATATGTCTTTAT	NM_000321	NP_000312	48954327	P06400	RB_HUMAN	0		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	16	1614_1615	+	-	-		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	Frame_Shift_Del	483			Domain A.|Pocket; binds T and E1A.			
RB1	0	broad.mit.edu	GRCh37	13	49039379	49039379	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6193-01	TCGA-76-6193-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267163.4:c.2364C>T	p.Ser788=	p.S788=	ENST00000267163	NM_000321.2	788	agC/agT	0			1			T	S	uc001vcb.2	protein_coding	YES	CCDS31973.1		6	2364/2787	D|Mis|N|F|S			retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			p.?(7)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	c.(2362-2364)AGC>AGT			hmmpanther:PTHR13742,Pfam_domain:PF08934	retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)			ENSP00000267163		23/27									COSM3399401,COSM3399400	23/27	.	Hereditary_Retinoblastoma	ENST00000267163	Transcript	1		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	ENSG00000139687	g.chr13:49039379C>T	9884			LOW								--	--	1				TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																															1,1	1			p.S788S	NM_000321	NP_000312			1,1	RB_HUMAN	RB1	HGNC	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN		23	2530	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	UPI0000001C79	788			Interaction with LIMD1.|Domain C; mediates interaction with E4F1.		SNV	RB1,synonymous_variant,p.=,ENST00000267163,NM_000321.2;	uc001vcb.2	c.2364C>T	2502/4840	1	1		6	c.2364C>T	D|Mis|N|F|S			retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung	13	SNP	c.(2362-2364)AGC>AGT	11	11		p.?(7)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	Broad	retinoblastoma 1		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	49039379	Hereditary_Retinoblastoma	0.403	ENSG00000139687	12887	g.chr13:49039379C>T	androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding			568			568	99.455226	KEEP	30	15	-1	73	54	30	15	-1	106.627082	73	54	0.262411	1	0	0	0	0	0	0	1	0	--	--	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)	0	T				276	GBM-76-6193-TP	p.S788S	C	TTCCTCGAAGCCCTTACAAGT	NM_000321	NP_000312	49039379	P06400	RB_HUMAN	0		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	23	2530	+	T	T		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	Silent	788			Interaction with LIMD1.|Domain C; mediates interaction with E4F1.			
RB1	5925		GRCh37	13	48951144	48951144	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000267163.4:c.1306C>T	p.Gln436Ter	p.Q436*	ENST00000267163	NM_000321.2	436	Cag/Tag	0																																																																																																																																																																																																																																												
RB1	5925		GRCh37	13	48941638	48941641	+	frameshift_variant	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000267163.4:c.951_954del	p.Ser318AsnfsTer13	p.S318Nfs*13	ENST00000267163	NM_000321.2	316	aaTCTT/aa	0																																																																																																																																																																																																																																												
RB1	5925		GRCh37	13	48941694	48941694	+	stop_gained	Nonsense_Mutation	SNP	T	T	G			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000267163.4:c.1004T>G	p.Leu335Ter	p.L335*	ENST00000267163	NM_000321.2	335	tTa/tGa	0																																																																																																																																																																																																																																												
RB1	5925		GRCh37	13	48919241	48919244	+	frameshift_variant	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000267163.4:c.409_412del	p.Glu137LeufsTer15	p.E137Lfs*15	ENST00000267163	NM_000321.2	136	AAAGaa/aa	0																																																																																																																																																																																																																																												
RB1	5925		GRCh37	13	49039399	49039399	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000267163.4:c.2384C>A	p.Ser795Ter	p.S795*	ENST00000267163	NM_000321.2	795	tCa/tAa	0																																																																																																																																																																																																																																												
RB1	5925		GRCh37	13	48934208	48934208	+	stop_gained	Nonsense_Mutation	SNP	T	T	A			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000267163.4:c.663T>A	p.Cys221Ter	p.C221*	ENST00000267163	NM_000321.2	221	tgT/tgA	0																																																																																																																																																																																																																																												
RB1CC1	9821	broad.mit.edu	GRCh37	8	53571454	53571454	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000025008.5:c.1772C>T	p.Ser591Leu	p.S591L	ENST00000025008	NM_014781.4	591	tCg/tTg	0			1			A	S/L	uc003xre.3	protein_coding	YES	CCDS34892.1			1772/4785									ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11	c.(1771-1773)TCG>TTG			hmmpanther:PTHR13222:SF1,hmmpanther:PTHR13222	Rb1-inducible coiled coil protein 1 isoform 1				ENSP00000025008		13/24	2.47E-05	0.000101				3.06E-05			rs776111804,COSM3413059	13/24	.		ENST00000025008	Transcript			autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	ENSG00000023287	g.chr8:53571454G>A	15574			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=RBCC1_HUMAN&rb=1&re=612&var=S591L	NA	getma.org/?cm=var&var=hg19,8,53571454,G,A&fts=all	S591L	--	--	1																																		RB1CC1_uc003xrf.3_Missense_Mutation_p.S591L	0,1	1		benign(0.098)	p.S591L	NM_014781	NP_055596		tolerated(0.1)	0,1	RBCC1_HUMAN	RB1CC1	HGNC	Q8TDY2	RBCC1_HUMAN			E5RH63_HUMAN,B4DGF9_HUMAN		13	2330	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	UPI0000DBEF23	591					SNV	RB1CC1,missense_variant,p.Ser591Leu,ENST00000025008,NM_014781.4;RB1CC1,missense_variant,p.Ser591Leu,ENST00000435644,NM_001083617.1;RB1CC1,missense_variant,p.Ser591Leu,ENST00000539297,;RB1CC1,intron_variant,,ENST00000521611,;RB1CC1,3_prime_UTR_variant,,ENST00000523594,;	uc003xre.3	c.1772C>T	2296/6635	2	2			c.1772C>T						8	SNP	c.(1771-1773)TCG>TTG	27	27			ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11	Broad	Rb1-inducible coiled coil protein 1 isoform 1			53571454		0.323	ENSG00000023287	12888	g.chr8:53571454G>A	autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	GBM(180;1701 2102 13475 42023 52570)			GBM(180;1701 2102 13475 42023 52570)			54.865261	KEEP	14	15	-1	61	46	14	15	-1	63.284245	61	46	0.211009	1	0	0	0	0	1	0	0	0	--	--		0	A			RB1CC1_uc003xrf.3_Missense_Mutation_p.S591L	46	GBM-06-0209-TP	p.S591L	G	CTGAACTTCCGAAGGACAAAA	NM_014781	NP_055596	53571454	Q8TDY2	RBCC1_HUMAN	0			13	2330	-	A	A		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	Missense_Mutation	591						
RB1CC1	9821	broad.mit.edu	GRCh37	8	53573548	53573548	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0745-01	TCGA-06-0745-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000025008.5:c.1565A>G	p.Lys522Arg	p.K522R	ENST00000025008	NM_014781.4	522	aAa/aGa	0			1			C	K/R	uc003xre.3	protein_coding	YES	CCDS34892.1			1565/4785									ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11	c.(1564-1566)AAA>AGA			hmmpanther:PTHR13222:SF1,hmmpanther:PTHR13222	Rb1-inducible coiled coil protein 1 isoform 1				ENSP00000025008		24-Nov	8.24E-06						0.00111		rs766968433,COSM2151722	24-Nov	.		ENST00000025008	Transcript			autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	ENSG00000023287	g.chr8:53573548T>C	15574			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=RBCC1_HUMAN&rb=1&re=612&var=K522R	NA	getma.org/?cm=var&var=hg19,8,53573548,T,C&fts=all	K522R	--	--	1																																		RB1CC1_uc003xrf.3_Missense_Mutation_p.K522R	0,1	1		benign(0.004)	p.K522R	NM_014781	NP_055596		tolerated(0.33)	0,1	RBCC1_HUMAN	RB1CC1	HGNC	Q8TDY2	RBCC1_HUMAN			E5RH63_HUMAN,B4DGF9_HUMAN		11	2123	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	UPI0000DBEF23	522					SNV	RB1CC1,missense_variant,p.Lys522Arg,ENST00000025008,NM_014781.4;RB1CC1,missense_variant,p.Lys522Arg,ENST00000435644,NM_001083617.1;RB1CC1,missense_variant,p.Lys522Arg,ENST00000539297,;RB1CC1,intron_variant,,ENST00000521611,;RB1CC1,missense_variant,p.Lys82Arg,ENST00000523594,;	uc003xre.3	c.1565A>G	2089/6635	3	3			c.1565A>G						8	SNP	c.(1564-1566)AAA>AGA	51	51			ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11	Broad	Rb1-inducible coiled coil protein 1 isoform 1			53573548		0.284	ENSG00000023287	12888	g.chr8:53573548T>C	autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	GBM(180;1701 2102 13475 42023 52570)			GBM(180;1701 2102 13475 42023 52570)			32.499302	KEEP	8	4	-1	25	18	8	4	-1	36.107631	25	18	0.22	1	0	0	0	0	1	0	0	0	--	--		0	C			RB1CC1_uc003xrf.3_Missense_Mutation_p.K522R	67	GBM-06-0745-TP	p.K522R	T	CTTTCCATCTTTGACTAAAGC	NM_014781	NP_055596	53573548	Q8TDY2	RBCC1_HUMAN	0			11	2123	-	C	C		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	Missense_Mutation	522						
RBAK	0	broad.mit.edu	GRCh37	7	5097035	5097035	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01	TCGA-14-1825-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000353796.3:c.125G>A	p.Ser42Asn	p.S42N	ENST00000353796	NM_001204456.1	42	aGc/aAc	0			1			A	S/N	uc010kss.1	protein_coding		CCDS5337.1			125/2145									ovary(3)|kidney(1)|skin(1)	5	c.(124-126)AGC>AAC			Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24392,hmmpanther:PTHR24392:SF18,SMART_domains:SM00349	RB-associated KRAB repressor				ENSP00000275423		6-Apr									COSM3412150	6-Apr	.		ENST00000353796	Transcript			negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	ENSG00000146587	g.chr7:5097035G>A	17680			MODERATE		2.48	medium	getma.org/?cm=msa&ty=f&p=RBAK_HUMAN&rb=8&re=48&var=S42N	getma.org/pdb.php?prot=RBAK_HUMAN&from=8&to=48&var=S42N	getma.org/?cm=var&var=hg19,7,5097035,G,A&fts=all	S42N	--	--	1																																		LOC389458_uc003snr.2_Missense_Mutation_p.S42N|RBAK_uc003sns.1_Missense_Mutation_p.S42N	1			benign(0.015)	p.S42N	NM_021163	NP_066986		tolerated(0.11)	1	RBAK_HUMAN	RBAK	HGNC	Q9NYW8	RBAK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)			4	449	+		Ovarian(82;0.0175)	UPI000004A03E	42			KRAB.		SNV	RBAK,missense_variant,p.Ser42Asn,ENST00000396912,NM_021163.3;RBAK,missense_variant,p.Ser42Asn,ENST00000353796,NM_001204456.1;RBAK-RBAKDN,missense_variant,p.Ser42Asn,ENST00000407184,;RBAK-RBAKDN,missense_variant,p.Ser42Asn,ENST00000396904,NM_001204513.1;RBAK,non_coding_transcript_exon_variant,,ENST00000476992,;	uc010kss.1	c.125G>A	449/4125	2	2			c.125G>A						7	SNP	c.(124-126)AGC>AAC	43	43			ovary(3)|kidney(1)|skin(1)	5	Broad	RB-associated KRAB repressor			5097035		0.433	ENSG00000146587	12889	g.chr7:5097035G>A	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding							181.937652	KEEP	50	26	-1	136	91	50	26	-1	196.577704	136	91	0.255556	1	0	0	0	0	1	0	0	0	--	--		0	A			LOC389458_uc003snr.2_Missense_Mutation_p.S42N|RBAK_uc003sns.1_Missense_Mutation_p.S42N	148	GBM-14-1825-TP	p.S42N	G	GAGAACTATAGCCATCTAGTT	NM_021163	NP_066986	5097035	Q9NYW8	RBAK_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	4	449	+	A	A		Ovarian(82;0.0175)	Missense_Mutation	42			KRAB.			
RBBP4	5928	broad.mit.edu	GRCh37	1	33134833	33134833	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0168-01	TCGA-06-0168-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373493.5:c.763T>G	p.Trp255Gly	p.W255G	ENST00000373493	NM_005610.2	255	Tgg/Ggg	0			1			G	W/G	uc001bvr.2	protein_coding	YES	CCDS366.1			763/1278									ovary(1)	1	c.(763-765)TGG>GGG			PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22850,hmmpanther:PTHR22850:SF90,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	retinoblastoma binding protein 4 isoform a				ENSP00000362592		12-Jul									COSM2150252	12-Jul	.		ENST00000373493	Transcript			cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding	ENSG00000162521	g.chr1:33134833T>G	9887			MODERATE		4.84	high	getma.org/?cm=msa&ty=f&p=RBBP4_HUMAN&rb=218&re=256&var=W255G	getma.org/pdb.php?prot=RBBP4_HUMAN&from=218&to=256&var=W255G	getma.org/?cm=var&var=hg19,1,33134833,T,G&fts=all	W255G	--	--	1																																		RBBP4_uc001bvs.2_Missense_Mutation_p.W254G|RBBP4_uc010ohj.1_Missense_Mutation_p.W3G|RBBP4_uc010ohk.1_Missense_Mutation_p.W220G	1	1		probably_damaging(1)	p.W255G	NM_005610	NP_005601		deleterious(0)	1	RBBP4_HUMAN	RBBP4	HGNC	Q09028	RBBP4_HUMAN			H0YCT5_HUMAN,E9PND5_HUMAN,C9JPP3_HUMAN,B4DRT0_HUMAN		7	922	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	UPI000013318C	255			WD 3.		SNV	RBBP4,missense_variant,p.Trp255Gly,ENST00000373493,NM_005610.2,NM_001135255.1;RBBP4,missense_variant,p.Trp254Gly,ENST00000414241,;RBBP4,missense_variant,p.Trp220Gly,ENST00000458695,NM_001135256.1;RBBP4,missense_variant,p.Trp3Gly,ENST00000544435,;RBBP4,missense_variant,p.Trp255Gly,ENST00000373485,;RBBP4,missense_variant,p.Trp15Gly,ENST00000463378,;RBBP4,missense_variant,p.Trp58Gly,ENST00000475321,;RBBP4,upstream_gene_variant,,ENST00000482190,;RBBP4,downstream_gene_variant,,ENST00000445722,;RBBP4,downstream_gene_variant,,ENST00000524393,;RBBP4,missense_variant,p.Trp10Gly,ENST00000460669,;RBBP4,splice_region_variant,,ENST00000492348,;RBBP4,splice_region_variant,,ENST00000526193,;RBBP4,splice_region_variant,,ENST00000531983,;RBBP4,downstream_gene_variant,,ENST00000401893,;RBBP4,downstream_gene_variant,,ENST00000527118,;RBBP4,downstream_gene_variant,,ENST00000477563,;	uc001bvr.2	c.763T>G	922/7943	3	3			c.763T>G						1	SNP	c.(763-765)TGG>GGG	53	53			ovary(1)	1	Broad	retinoblastoma binding protein 4 isoform a			33134833		0.353	ENSG00000162521	12890	g.chr1:33134833T>G	cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding							99.89957	KEEP	13	17	-1	30	18	13	17	-1	100.853428	30	18	0.378378	1	0	0	0	0	1	0	0	0	--	--		0	G			RBBP4_uc001bvs.2_Missense_Mutation_p.W254G|RBBP4_uc010ohj.1_Missense_Mutation_p.W3G|RBBP4_uc010ohk.1_Missense_Mutation_p.W220G	33	GBM-06-0168-TP	p.W255G	T	TCACTGAAGTTGGGATACTCG	NM_005610	NP_005601	33134833	Q09028	RBBP4_HUMAN	0			7	922	+	G	G		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	Missense_Mutation	255			WD 3.			
RBBP5	5929		GRCh37	1	205065884	205065884	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000264515.6:c.1322C>T	p.Ser441Leu	p.S441L	ENST00000264515	NM_001193273.1	441	tCa/tTa	0																																																																																																																																																																																																																																												
RBBP6	5930	broad.mit.edu	GRCh37	16	24582927	24582927	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0686-01	TCGA-06-0686-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319715.4:c.4540A>C	p.Lys1514Gln	p.K1514Q	ENST00000319715	NM_006910.4	1514	Aaa/Caa	0			1			C	K/Q	uc002dmh.2	protein_coding	YES	CCDS10621.1			4540/5379									ovary(3)|pancreas(1)	4	c.(4540-4542)AAA>CAA			hmmpanther:PTHR15439,hmmpanther:PTHR15439:SF1	retinoblastoma-binding protein 6 isoform 1				ENSP00000317872		18/18									COSM2151550	18/18	.		ENST00000319715	Transcript			protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000122257	g.chr16:24582927A>C	9889			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=RBBP6_HUMAN&rb=1470&re=1669&var=K1514Q	NA	getma.org/?cm=var&var=hg19,16,24582927,A,C&fts=all	K1514Q	--	--	1																																		RBBP6_uc002dmi.2_Missense_Mutation_p.K1480Q|RBBP6_uc010bxr.2_Missense_Mutation_p.K674Q|RBBP6_uc002dmk.2_Missense_Mutation_p.K1347Q	1	1		unknown(0)	p.K1514Q	NM_006910	NP_008841		deleterious_low_confidence(0)	1	RBBP6_HUMAN	RBBP6	HGNC	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	I3L3Y2_HUMAN,H3BUN0_HUMAN,H3BSK8_HUMAN		18	5580	+			UPI00001A96B8	1514			Interaction with p53 (By similarity).		SNV	RBBP6,missense_variant,p.Lys1514Gln,ENST00000319715,NM_006910.4;RBBP6,missense_variant,p.Lys1480Gln,ENST00000348022,NM_018703.3;RBBP6,missense_variant,p.Lys674Gln,ENST00000381039,;RBBP6,downstream_gene_variant,,ENST00000564314,;RBBP6,non_coding_transcript_exon_variant,,ENST00000562430,;RBBP6,downstream_gene_variant,,ENST00000570185,;	uc002dmh.2	c.4540A>C	4972/6229	4	4			c.4540A>C						16	SNP	c.(4540-4542)AAA>CAA	44	44			ovary(3)|pancreas(1)	4	Broad	retinoblastoma-binding protein 6 isoform 1			24582927		0.368	ENSG00000122257	12892	g.chr16:24582927A>C	protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding							72.031795	KEEP	8	13	-1	11	4	8	13	-1	72.197296	11	4	0.575758	1	0	0	0	0	1	0	0	0	--	--		0	C			RBBP6_uc002dmi.2_Missense_Mutation_p.K1480Q|RBBP6_uc010bxr.2_Missense_Mutation_p.K674Q|RBBP6_uc002dmk.2_Missense_Mutation_p.K1347Q	64	GBM-06-0686-TP	p.K1514Q	A	ACAGAAAAATAAACCAAGGGA	NM_006910	NP_008841	24582927	Q7Z6E9	RBBP6_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0518)	18	5580	+	C	C			Missense_Mutation	1514			Interaction with p53 (By similarity).			
RBBP6	0	broad.mit.edu	GRCh37	16	24552109	24552109	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-12-5301-01	TCGA-12-5301-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319715.4:c.162A>G	p.Lys54=	p.K54=	ENST00000319715	NM_006910.4	54	aaA/aaG	0			1			G	K	uc002dmh.2	protein_coding	YES	CCDS10621.1			162/5379									ovary(3)|pancreas(1)	4	c.(160-162)AAA>AAG			Pfam_domain:PF08783,PROSITE_profiles:PS51282,hmmpanther:PTHR15439,hmmpanther:PTHR15439:SF1	retinoblastoma-binding protein 6 isoform 1				ENSP00000317872		18-Jan									COSM3402202	18-Jan	.		ENST00000319715	Transcript			protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000122257	g.chr16:24552109A>G	9889			LOW								--	--	1																																		RBBP6_uc010vcb.1_Intron|RBBP6_uc002dmg.2_Silent_p.K54K|RBBP6_uc002dmi.2_Silent_p.K54K|RBBP6_uc010bxr.2_Silent_p.K54K	1	1			p.K54K	NM_006910	NP_008841			1	RBBP6_HUMAN	RBBP6	HGNC	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	I3L3Y2_HUMAN,H3BUN0_HUMAN,H3BSK8_HUMAN		1	1202	+			UPI00001A96B8	54			DWNN.		SNV	RBBP6,synonymous_variant,p.=,ENST00000319715,NM_006910.4;RBBP6,synonymous_variant,p.=,ENST00000348022,NM_018703.3;RBBP6,synonymous_variant,p.=,ENST00000381039,;RBBP6,synonymous_variant,p.=,ENST00000567686,;RBBP6,synonymous_variant,p.=,ENST00000452655,NM_032626.5;RBBP6,synonymous_variant,p.=,ENST00000568015,;RBBP6,intron_variant,,ENST00000564314,;RBBP6,downstream_gene_variant,,ENST00000568316,;	uc002dmh.2	c.162A>G	594/6229	3	3			c.162A>G						16	SNP	c.(160-162)AAA>AAG	1	1			ovary(3)|pancreas(1)	4	Broad	retinoblastoma-binding protein 6 isoform 1			24552109		0.517	ENSG00000122257	12892	g.chr16:24552109A>G	protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding							193.082505	KEEP	27	28	-1	13	8	27	28	-1	196.218886	13	8	0.724638	1	0	0	0	0	0	0	1	0	--	--		0	G			RBBP6_uc010vcb.1_Intron|RBBP6_uc002dmg.2_Silent_p.K54K|RBBP6_uc002dmi.2_Silent_p.K54K|RBBP6_uc010bxr.2_Silent_p.K54K	131	GBM-12-5301-TP	p.K54K	A	CGCAGACGAAAGAAGGTAAGG	NM_006910	NP_008841	24552109	Q7Z6E9	RBBP6_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0518)	1	1202	+	G	G			Silent	54			DWNN.			
RBBP6	0	broad.mit.edu	GRCh37	16	24581255	24581256	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-19-5947-01	TCGA-19-5947-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319715.4:c.3250dupA	p.Ile1084AsnfsTer11	p.I1084Nfs*11	ENST00000319715	NM_006910.4	1082	gaa/gAaa	0			1			A	E/EX	uc002dmh.2	protein_coding	YES	CCDS10621.1			3244-3245/5379									ovary(3)|pancreas(1)	4	c.(3244-3246)GAAfs			hmmpanther:PTHR15439,hmmpanther:PTHR15439:SF1	retinoblastoma-binding protein 6 isoform 1				ENSP00000317872		17/18										17/18	.		ENST00000319715	Transcript			protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000122257	g.chr16:24581255_24581256insA	9889	6		HIGH								--	--	1																																		RBBP6_uc010vcb.1_Frame_Shift_Ins_p.E949fs|RBBP6_uc002dmi.2_Frame_Shift_Ins_p.E1048fs|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Frame_Shift_Ins_p.E915fs		1			p.E1082fs	NM_006910	NP_008841				RBBP6_HUMAN	RBBP6	HGNC	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	I3L3Y2_HUMAN,H3BUN0_HUMAN,H3BSK8_HUMAN		17	4284_4285	+			UPI00001A96B8	1082			Interaction with RB1 (By similarity).		insertion	RBBP6,frameshift_variant,p.Ile1084AsnfsTer11,ENST00000319715,NM_006910.4;RBBP6,frameshift_variant,p.Ile1050AsnfsTer11,ENST00000348022,NM_018703.3;RBBP6,frameshift_variant,p.Ile951AsnfsTer11,ENST00000564314,;RBBP6,intron_variant,,ENST00000381039,;RBBP6,non_coding_transcript_exon_variant,,ENST00000562430,;RBBP6,downstream_gene_variant,,ENST00000570185,;	uc002dmh.2	c.3244_3245insA	3676-3677/6229	5	5			c.3244_3245insA						16	INS	c.(3244-3246)GAAfs	8	8			ovary(3)|pancreas(1)	4	Broad	retinoblastoma-binding protein 6 isoform 1			24581256		0.406	ENSG00000122257	12892	g.chr16:24581255_24581256insA	protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding																				0.23	1	0	0	1	1	0	0	0	0	--	--		0	A			RBBP6_uc010vcb.1_Frame_Shift_Ins_p.E949fs|RBBP6_uc002dmi.2_Frame_Shift_Ins_p.E1048fs|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Frame_Shift_Ins_p.E915fs	169	GBM-19-5947-TP	p.E1082fs	-	TCAGAAGGATGAAAAAATCACT	NM_006910	NP_008841	24581255	Q7Z6E9	RBBP6_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0518)	17	4284_4285	+	A	A			Frame_Shift_Ins	1082			Interaction with RB1 (By similarity).			
RBBP6	0	broad.mit.edu	GRCh37	16	24581488	24581489	+	frameshift_variant	Frame_Shift_Del	DEL	TT	TT	-			TCGA-76-4929-01	TCGA-76-4929-01	TT	TT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319715.4:c.3479_3480delTT	p.Phe1160Ter	p.F1160*	ENST00000319715	NM_006910.4	1159	gaTTtt/gatt	0			1			-	DF/DX	uc002dmh.2	protein_coding	YES	CCDS10621.1			3477-3478/5379									ovary(3)|pancreas(1)	4	c.(3475-3480)GATTTTfs			hmmpanther:PTHR15439,hmmpanther:PTHR15439:SF1	retinoblastoma-binding protein 6 isoform 1				ENSP00000317872		17/18										17/18	.		ENST00000319715	Transcript			protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000122257	g.chr16:24581488_24581489delTT	9889	2		HIGH								--	--	1																																		RBBP6_uc010vcb.1_Frame_Shift_Del_p.D1026fs|RBBP6_uc002dmi.2_Frame_Shift_Del_p.D1125fs|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Frame_Shift_Del_p.D992fs		1			p.D1159fs	NM_006910	NP_008841				RBBP6_HUMAN	RBBP6	HGNC	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	I3L3Y2_HUMAN,H3BUN0_HUMAN,H3BSK8_HUMAN		17	4517_4518	+			UPI00001A96B8	1159_1160					deletion	RBBP6,frameshift_variant,p.Phe1160Ter,ENST00000319715,NM_006910.4;RBBP6,frameshift_variant,p.Phe1126Ter,ENST00000348022,NM_018703.3;RBBP6,intron_variant,,ENST00000381039,;RBBP6,downstream_gene_variant,,ENST00000564314,;RBBP6,non_coding_transcript_exon_variant,,ENST00000562430,;RBBP6,downstream_gene_variant,,ENST00000570185,;	uc002dmh.2	c.3477_3478delTT	3909-3910/6229	5	5			c.3477_3478delTT						16	DEL	c.(3475-3480)GATTTTfs	52	52			ovary(3)|pancreas(1)	4	Broad	retinoblastoma-binding protein 6 isoform 1			24581489		0.342	ENSG00000122257	12892	g.chr16:24581488_24581489delTT	protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding																				0.43	1	1	0	1	0	0	0	0	0	--	--		0	-			RBBP6_uc010vcb.1_Frame_Shift_Del_p.D1026fs|RBBP6_uc002dmi.2_Frame_Shift_Del_p.D1125fs|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Frame_Shift_Del_p.D992fs	269	GBM-76-4929-TP	p.D1159fs	TT	TAGATAAAGATTTTGAGTCTTC	NM_006910	NP_008841	24581488	Q7Z6E9	RBBP6_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0518)	17	4517_4518	+	-	-			Frame_Shift_Del	1159_1160						
RBBP8	0	broad.mit.edu	GRCh37	18	20564928	20564928	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-12-3652-01	TCGA-12-3652-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327155.5:c.684T>C	p.Tyr228=	p.Y228=	ENST00000327155	NM_002894.2	228	taT/taC	0		C:0	1	C:0.0014		C	Y	uc002ktw.2	protein_coding		CCDS11875.1			684/2694									ovary(1)|lung(1)|skin(1)	3	c.(682-684)TAT>TAC		Direct_reversal_of_damage|Homologous_recombination	hmmpanther:PTHR15107:SF2,hmmpanther:PTHR15107	retinoblastoma binding protein 8 isoform a		C:0.001		ENSP00000323050	C:0	19-Aug	7.41E-05		8.64E-05	0.000463		3.00E-05		0.000121	rs199995388,COSM2885260,COSM2885261	19-Aug	common_variant		ENST00000327155	Transcript	1	C:0.0004	cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	ENSG00000101773	g.chr18:20564928T>C	9891			LOW								--	--	1																																		RBBP8_uc002kty.2_Silent_p.Y228Y|RBBP8_uc002ktz.2_Silent_p.Y228Y|RBBP8_uc002kua.2_Silent_p.Y228Y|RBBP8_uc002ktx.1_Silent_p.Y228Y	0,1,1				p.Y228Y	NM_002894	NP_002885	C:0		0,1,1	COM1_HUMAN	RBBP8	HGNC	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		J3QRM0_HUMAN,J3QLW6_HUMAN,J3QLH2_HUMAN,J3QL93_HUMAN,J3KSA4_HUMAN,F6Q6H0_HUMAN		8	1015	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		UPI000013D1A9	228					SNV	RBBP8,synonymous_variant,p.=,ENST00000399722,NM_203291.1;RBBP8,synonymous_variant,p.=,ENST00000327155,NM_002894.2;RBBP8,synonymous_variant,p.=,ENST00000399725,NM_203292.1;RBBP8,synonymous_variant,p.=,ENST00000360790,;RBBP8,synonymous_variant,p.=,ENST00000399721,;RBBP8,synonymous_variant,p.=,ENST00000577445,;RBBP8,downstream_gene_variant,,ENST00000582354,;RBBP8,3_prime_UTR_variant,,ENST00000585177,;	uc002ktw.2	c.684T>C	1032/3288	4	4			c.684T>C						18	SNP	c.(682-684)TAT>TAC	43	43			ovary(1)|lung(1)|skin(1)	3	Broad	retinoblastoma binding protein 8 isoform a	Direct_reversal_of_damage|Homologous_recombination		20564928		0.353	ENSG00000101773	12894	g.chr18:20564928T>C	cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity		p.Y228Y(OCUM1-Tumor)	470		p.Y228Y(OCUM1-Tumor)	470	110.920107	KEEP	18	25	-1	32	46	18	25	-1	112.789407	32	46	0.358491	1	0	0	0	0	0	0	1	0	--	--		0	C			RBBP8_uc002kty.2_Silent_p.Y228Y|RBBP8_uc002ktz.2_Silent_p.Y228Y|RBBP8_uc002kua.2_Silent_p.Y228Y|RBBP8_uc002ktx.1_Silent_p.Y228Y	127	GBM-12-3652-TP	p.Y228Y	T	CTGACACTTATGACCAAAGTC	NM_002894	NP_002885	20564928	Q99708	COM1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		8	1015	+	C	C	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		Silent	228						
RBBP8	0	broad.mit.edu	GRCh37	18	20573449	20573449	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-14-0813-01	TCGA-14-0813-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327155.5:c.1659C>G	p.Pro553=	p.P553=	ENST00000327155	NM_002894.2	553	ccC/ccG	0			1			G	P	uc002ktw.2	protein_coding		CCDS11875.1			1659/2694									ovary(1)|lung(1)|skin(1)	3	c.(1657-1659)CCC>CCG		Direct_reversal_of_damage|Homologous_recombination	hmmpanther:PTHR15107:SF2,hmmpanther:PTHR15107	retinoblastoma binding protein 8 isoform a				ENSP00000323050		19-Nov									COSM2154731,COSM2154732	19-Nov	.		ENST00000327155	Transcript	1		cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	ENSG00000101773	g.chr18:20573449C>G	9891			LOW								--	--	1																																		RBBP8_uc002kty.2_Silent_p.P553P|RBBP8_uc002ktz.2_Silent_p.P553P|RBBP8_uc002kua.2_Silent_p.P553P|RBBP8_uc010xap.1_5'Flank|RBBP8_uc002ktx.1_Silent_p.P553P	1,1				p.P553P	NM_002894	NP_002885			1,1	COM1_HUMAN	RBBP8	HGNC	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		J3QRM0_HUMAN,J3QLW6_HUMAN,J3QLH2_HUMAN,J3QL93_HUMAN,J3KSA4_HUMAN,F6Q6H0_HUMAN		11	1990	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		UPI000013D1A9	553					SNV	RBBP8,synonymous_variant,p.=,ENST00000399722,NM_203291.1;RBBP8,synonymous_variant,p.=,ENST00000327155,NM_002894.2;RBBP8,synonymous_variant,p.=,ENST00000399725,NM_203292.1;RBBP8,synonymous_variant,p.=,ENST00000360790,;RBBP8,synonymous_variant,p.=,ENST00000399721,;RBBP8,synonymous_variant,p.=,ENST00000583057,;RBBP8,downstream_gene_variant,,ENST00000577445,;RBBP8,downstream_gene_variant,,ENST00000585177,;	uc002ktw.2	c.1659C>G	2007/3288	3	3			c.1659C>G						18	SNP	c.(1657-1659)CCC>CCG	7	7			ovary(1)|lung(1)|skin(1)	3	Broad	retinoblastoma binding protein 8 isoform a	Direct_reversal_of_damage|Homologous_recombination		20573449		0.438	ENSG00000101773	12894	g.chr18:20573449C>G	cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			470			470	126.656176	KEEP	23	22	-1	36	51	23	22	-1	129.073679	36	51	0.352	1	0	0	0	0	0	0	1	0	--	--		0	G			RBBP8_uc002kty.2_Silent_p.P553P|RBBP8_uc002ktz.2_Silent_p.P553P|RBBP8_uc002kua.2_Silent_p.P553P|RBBP8_uc010xap.1_5'Flank|RBBP8_uc002ktx.1_Silent_p.P553P	138	GBM-14-0813-TP	p.P553P	C	CAGGGGAGCCCTGTTCACAGG	NM_002894	NP_002885	20573449	Q99708	COM1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		11	1990	+	G	G	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		Silent	553						
RBBP8	5932		GRCh37	18	20572852	20572853	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000399722.2:c.1071dup	p.His358ThrfsTer8	p.H358Tfs*8	ENST00000399722	NM_203291.1	354	-/A	0																																																																																																																																																																																																																																												
RBCK1	0	broad.mit.edu	GRCh37	20	409649	409649	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356286.5:c.1363C>T	p.Gln455Ter	p.Q455*	ENST00000356286	NM_031229.2	455	Cag/Tag	0			1			T	Q/*	uc002wdp.3	protein_coding	YES	CCDS13000.2			1363/1533										0	c.(1363-1365)CAG>TAG			hmmpanther:PTHR22770:SF29,hmmpanther:PTHR22770,Pfam_domain:PF01485,Superfamily_domains:SSF57850	RanBP-type and C3HC4-type zinc finger containing				ENSP00000348632		12-Nov									COSM3405087,COSM3405086	12-Nov	.		ENST00000356286	Transcript	1		interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000125826	g.chr20:409649C>T	15864			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,20,409649,C,T&fts=all	Q455*	--	--	1																																		RBCK1_uc002wdq.3_Nonsense_Mutation_p.Q413*|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_Nonsense_Mutation_p.Q285*	1,1	1			p.Q455*	NM_031229	NP_112506			1,1	HOIL1_HUMAN	RBCK1	HGNC	Q9BYM8	HOIL1_HUMAN			Q5JWR1_HUMAN		11	2056	+		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)	UPI000006F045	455			IBR-type 2.		SNV	RBCK1,stop_gained,p.Gln455Ter,ENST00000356286,NM_031229.2;RBCK1,stop_gained,p.Gln413Ter,ENST00000353660,NM_006462.4;RBCK1,stop_gained,p.Gln285Ter,ENST00000382181,;RBCK1,3_prime_UTR_variant,,ENST00000382214,;RBCK1,3_prime_UTR_variant,,ENST00000415942,;RBCK1,non_coding_transcript_exon_variant,,ENST00000468272,;	uc002wdp.3	c.1363C>T	2068/2774	5	1			c.1363C>T						20	SNP	c.(1363-1365)CAG>TAG	7	7				0	Broad	RanBP-type and C3HC4-type zinc finger containing			409649		0.682	ENSG00000125826	12896	g.chr20:409649C>T	interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding							-12.047356	KEEP	1	2	-1	49	41	1	2	-1	6.48145	49	41	0.0375	1	0	0	0	0	0	1	0	0	--	--		0	T			RBCK1_uc002wdq.3_Nonsense_Mutation_p.Q413*|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_Nonsense_Mutation_p.Q285*	160	GBM-19-1790-TP	p.Q455*	C	GATCGTGGTACAGAAGAAGGA	NM_031229	NP_112506	409649	Q9BYM8	HOIL1_HUMAN	0			11	2056	+	T	T		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)	Nonsense_Mutation	455			IBR-type 2.			
RBCK1	10616		GRCh37	20	390566	390566	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000356286.5:c.64G>A	p.Gly22Arg	p.G22R	ENST00000356286	NM_031229.2	22	Ggg/Agg	0																																																																																																																																																																																																																																												
RBFOX1	54715	broad.mit.edu	GRCh37	16	7726795	7726795	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311745.5:c.1013G>A	p.Arg338His	p.R338H	ENST00000311745	NM_145891.2	338	cGc/cAc	0			1			A	R/H	uc002cys.2	protein_coding		CCDS55983.1			950/1194										0	c.(949-951)CGC>CAC			Low_complexity_(Seg):seg,hmmpanther:PTHR15597,hmmpanther:PTHR15597:SF8,Pfam_domain:PF12414,PIRSF_domain:PIRSF037932	ataxin 2-binding protein 1 isoform 4				ENSP00000447717		14-Dec	8.24E-06					1.50E-05			rs776698363,COSM2149617,COSM2149615,COSM3787233,COSM2149616	14-Dec	.		ENST00000547338	Transcript			mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	ENSG00000078328	g.chr16:7726795G>A	18222			MODERATE		2.095	medium	getma.org/?cm=msa&ty=f&p=RFOX1_HUMAN&rb=252&re=342&var=R317H	NA	getma.org/?cm=var&var=hg19,16,7726795,G,A&fts=all	R317H	--	--	1																																		A2BP1_uc002cyt.2_Missense_Mutation_p.R290H|A2BP1_uc010uxz.1_Missense_Mutation_p.R360H|A2BP1_uc010uya.1_Missense_Mutation_p.R274H|A2BP1_uc010uyb.1_Missense_Mutation_p.R317H|A2BP1_uc002cyw.2_Missense_Mutation_p.R338H|A2BP1_uc002cyy.2_Missense_Mutation_p.R338H|A2BP1_uc002cyx.2_Missense_Mutation_p.R338H|A2BP1_uc010uyc.1_Missense_Mutation_p.R311H	0,1,1,1,1			probably_damaging(0.998)	p.R317H	NM_018723	NP_061193		deleterious(0)	0,1,1,1,1	RFOX1_HUMAN	RBFOX1	HGNC	Q9NWB1	RFOX1_HUMAN		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)	Q8TCM0_HUMAN,F8VZY7_HUMAN		14	1938	+		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)	UPI0000163C0C	317					SNV	RBFOX1,missense_variant,p.Arg322His,ENST00000340209,;RBFOX1,missense_variant,p.Arg360His,ENST00000547372,;RBFOX1,missense_variant,p.Arg338His,ENST00000355637,NM_145893.2;RBFOX1,missense_variant,p.Arg338His,ENST00000311745,NM_145891.2,NM_145892.2;RBFOX1,missense_variant,p.Arg317His,ENST00000550418,NM_018723.3;RBFOX1,missense_variant,p.Arg290His,ENST00000553186,NM_001142333.1;RBFOX1,missense_variant,p.Arg360His,ENST00000422070,;RBFOX1,missense_variant,p.Arg274His,ENST00000535565,;RBFOX1,missense_variant,p.Arg338His,ENST00000436368,;RBFOX1,missense_variant,p.Arg317His,ENST00000547338,NM_001142334.1;RBFOX1,missense_variant,p.Arg334His,ENST00000552089,;RBFOX1,missense_variant,p.Ala35Thr,ENST00000567470,;RBFOX1,non_coding_transcript_exon_variant,,ENST00000570188,;	uc002cys.2	c.950G>A	1170/1513	2	2			c.950G>A						16	SNP	c.(949-951)CGC>CAC	17	17				0	Broad	ataxin 2-binding protein 1 isoform 4			7726795		0.517	ENSG00000078328	3	g.chr16:7726795G>A	mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding							129.891982	KEEP	23	21	-1	35	23	23	21	-1	130.25834	35	23	0.43299	1	0	0	0	0	1	0	0	0	--	--		0	A			A2BP1_uc002cyt.2_Missense_Mutation_p.R290H|A2BP1_uc010uxz.1_Missense_Mutation_p.R360H|A2BP1_uc010uya.1_Missense_Mutation_p.R274H|A2BP1_uc010uyb.1_Missense_Mutation_p.R317H|A2BP1_uc002cyw.2_Missense_Mutation_p.R338H|A2BP1_uc002cyy.2_Missense_Mutation_p.R338H|A2BP1_uc002cyx.2_Missense_Mutation_p.R338H|A2BP1_uc010uyc.1_Missense_Mutation_p.R311H	18	GBM-06-0137-TP	p.R317H	G	GCTGCATACCGCTACGCCCAG	NM_018723	NP_061193	7726795	Q9NWB1	RFOX1_HUMAN	0		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)	14	1938	+	A	A		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)	Missense_Mutation	317						
RBFOX1	0	broad.mit.edu	GRCh37	16	7568147	7568148	+	splice_acceptor_variant	Splice_Site	INS	-	-	G			TCGA-06-6701-01	TCGA-06-6701-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000547338.1:c.29dupG	p.Asn11Ter	p.N11*	ENST00000547338	NM_001142334.1			0			1			G		uc002cys.2	protein_coding		CCDS55983.1			29/1194										0	c.e5-1				ataxin 2-binding protein 1 isoform 4				ENSP00000447717													.		ENST00000547338	Transcript			mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	ENSG00000078328	g.chr16:7568147_7568148insG	18222	3		HIGH	13-Feb							--	--	1																																		A2BP1_uc010buf.1_Splice_Site_p.G10_splice|A2BP1_uc002cyr.1_Splice_Site_p.G10_splice|A2BP1_uc002cyt.2_Splice_Site_p.G10_splice|A2BP1_uc010uxz.1_Splice_Site_p.G53_splice|A2BP1_uc010uya.1_Splice_Site_p.G46_splice|A2BP1_uc002cyv.1_Splice_Site_p.G10_splice|A2BP1_uc010uyb.1_Splice_Site_p.G10_splice|A2BP1_uc002cyw.2_Splice_Site_p.G30_splice|A2BP1_uc002cyy.2_Splice_Site_p.G30_splice|A2BP1_uc002cyx.2_Splice_Site_p.G30_splice|A2BP1_uc010uyc.1_Splice_Site_p.G30_splice					p.G10_splice	NM_018723	NP_061193				RFOX1_HUMAN	RBFOX1	HGNC	Q9NWB1	RFOX1_HUMAN		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)	Q8TCM0_HUMAN,F8VZY7_HUMAN		5	1016	+		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)	UPI0000163C0C						insertion	RBFOX1,splice_acceptor_variant,p.Asn16Ter,ENST00000340209,;RBFOX1,splice_acceptor_variant,p.Asn54Ter,ENST00000547372,;RBFOX1,splice_acceptor_variant,p.Asn31Ter,ENST00000355637,NM_145893.2;RBFOX1,splice_acceptor_variant,p.Asn31Ter,ENST00000311745,NM_145891.2,NM_145892.2;RBFOX1,splice_acceptor_variant,p.Asn11Ter,ENST00000550418,NM_018723.3;RBFOX1,splice_acceptor_variant,p.Asn11Ter,ENST00000553186,NM_001142333.1;RBFOX1,splice_acceptor_variant,p.Asn11Ter,ENST00000547605,;RBFOX1,splice_acceptor_variant,p.Asn54Ter,ENST00000422070,;RBFOX1,splice_acceptor_variant,p.Asn47Ter,ENST00000535565,;RBFOX1,splice_acceptor_variant,p.Asn31Ter,ENST00000436368,;RBFOX1,splice_acceptor_variant,p.Asn11Ter,ENST00000547338,NM_001142334.1;RBFOX1,splice_acceptor_variant,p.Asn47Ter,ENST00000552089,;RBFOX1,splice_acceptor_variant,p.Asn11Ter,ENST00000551752,;RBFOX1,splice_acceptor_variant,p.Asn13Ter,ENST00000570626,;RBFOX1,splice_acceptor_variant,,ENST00000569889,;	uc002cys.2	c.28_splice	-/1513	5	5			c.28_splice						16	INS	c.e5-1	17	17				0	Broad	ataxin 2-binding protein 1 isoform 4			7568148		0.574	ENSG00000078328	3	g.chr16:7568147_7568148insG	mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding																				0.04	1	0	0	1	1	0	0	0	1	--	--		0	G			A2BP1_uc010buf.1_Splice_Site_p.G10_splice|A2BP1_uc002cyr.1_Splice_Site_p.G10_splice|A2BP1_uc002cyt.2_Splice_Site_p.G10_splice|A2BP1_uc010uxz.1_Splice_Site_p.G53_splice|A2BP1_uc010uya.1_Splice_Site_p.G46_splice|A2BP1_uc002cyv.1_Splice_Site_p.G10_splice|A2BP1_uc010uyb.1_Splice_Site_p.G10_splice|A2BP1_uc002cyw.2_Splice_Site_p.G30_splice|A2BP1_uc002cyy.2_Splice_Site_p.G30_splice|A2BP1_uc002cyx.2_Splice_Site_p.G30_splice|A2BP1_uc010uyc.1_Splice_Site_p.G30_splice	115	GBM-06-6701-TP	p.G10_splice	-	TTGATTTTTCAGGGTAATCAGG	NM_018723	NP_061193	7568147	Q9NWB1	RFOX1_HUMAN	0		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)	5	1016	+	G	G		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)	Splice_Site							
RBL1	0	broad.mit.edu	GRCh37	20	35690525	35690525	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-5950-01	TCGA-19-5950-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373664.3:c.1045G>T	p.Ala349Ser	p.A349S	ENST00000373664	NM_002895.3	349	Gct/Tct	0			1			A	A/S	uc002xgi.2	protein_coding	YES	CCDS13289.1			1045/3207									lung(5)|skin(3)|ovary(2)	10	c.(1045-1047)GCT>TCT			hmmpanther:PTHR13742,hmmpanther:PTHR13742:SF20	retinoblastoma-like protein 1 isoform a				ENSP00000362768		22-Aug									COSM2156535	22-Aug	.		ENST00000373664	Transcript			cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	ENSG00000080839	g.chr20:35690525C>A	9893			MODERATE		0.66	neutral	getma.org/?cm=msa&ty=f&p=RBL1_HUMAN&rb=213&re=384&var=A349S	NA	getma.org/?cm=var&var=hg19,20,35690525,C,A&fts=all	A349S	--	--	1																																		RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.A349S|RBL1_uc010gfv.1_RNA	1	1		benign(0.01)	p.A349S	NM_002895	NP_002886		tolerated(0.67)	1	RBL1_HUMAN	RBL1	HGNC	P28749	RBL1_HUMAN					8	1124	-		Myeloproliferative disorder(115;0.00878)	UPI000013D34E	349					SNV	RBL1,missense_variant,p.Ala349Ser,ENST00000373664,NM_002895.3;RBL1,missense_variant,p.Ala349Ser,ENST00000344359,NM_183404.2;RBL1,missense_variant,p.Ala154Ser,ENST00000525052,;	uc002xgi.2	c.1045G>T	1112/5684	2	2			c.1045G>T						20	SNP	c.(1045-1047)GCT>TCT	26	26			lung(5)|skin(3)|ovary(2)	10	Broad	retinoblastoma-like protein 1 isoform a			35690525		0.423	ENSG00000080839	12898	g.chr20:35690525C>A	cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			419			419	54.307222	KEEP	5	19	0.791666667	41	53	5	19	0.791666667	61.918077	41	53	0.219048	1	0	0	0	0	1	0	0	0	--	--		0	A			RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.A349S|RBL1_uc010gfv.1_RNA	170	GBM-19-5950-TP	p.A349S	C	TCCACATTAGCCTGTGCTGTC	NM_002895	NP_002886	35690525	P28749	RBL1_HUMAN	0			8	1124	-	A	A		Myeloproliferative disorder(115;0.00878)	Missense_Mutation	349						
RBL2	0	broad.mit.edu	GRCh37	16	53500990	53500990	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-32-2494-01	TCGA-32-2494-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262133.6:c.1884G>T	p.Leu628=	p.L628=	ENST00000262133	NM_005611.3	628	ctG/ctT	0			1			T	L	uc002ehi.3	protein_coding	YES	CCDS10748.1			1884/3420									ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5	c.(1882-1884)CTG>CTT			hmmpanther:PTHR13742,hmmpanther:PTHR13742:SF8	retinoblastoma-like 2 (p130)				ENSP00000262133		14/22									COSM3402362	14/22	.		ENST00000262133	Transcript			cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	ENSG00000103479	g.chr16:53500990G>T	9894			LOW								--	--	1																																		RBL2_uc010vgv.1_Silent_p.L554L|RBL2_uc002ehj.2_Silent_p.L338L|RBL2_uc010vgw.1_Silent_p.L412L	1	1			p.L628L	NM_005611	NP_005602			1	RBL2_HUMAN	RBL2	HGNC	Q08999	RBL2_HUMAN			J3KSF7_HUMAN		14	2002	+			UPI000013D264	628			Spacer.|Pocket; binds E1A.		SNV	RBL2,synonymous_variant,p.=,ENST00000262133,NM_005611.3;RBL2,synonymous_variant,p.=,ENST00000544545,;RBL2,synonymous_variant,p.=,ENST00000544405,;RBL2,non_coding_transcript_exon_variant,,ENST00000379935,;RBL2,non_coding_transcript_exon_variant,,ENST00000562837,;RBL2,downstream_gene_variant,,ENST00000561512,;RBL2,downstream_gene_variant,,ENST00000562850,;	uc002ehi.3	c.1884G>T	2021/4906	1	1			c.1884G>T						16	SNP	c.(1882-1884)CTG>CTT	4	4			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5	Broad	retinoblastoma-like 2 (p130)			53500990		0.423	ENSG00000103479	12899	g.chr16:53500990G>T	cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			265			265	173.677076	KEEP	34	56	0.377777778	160	142	34	56	0.377777778	197.685548	160	142	0.21988	1	0	0	0	0	0	0	1	0	--	--		0	T			RBL2_uc010vgv.1_Silent_p.L554L|RBL2_uc002ehj.2_Silent_p.L338L|RBL2_uc010vgw.1_Silent_p.L412L	236	GBM-32-2494-TP	p.L628L	G	CTCAGAACCTGGAAAGGGCAG	NM_005611	NP_005602	53500990	Q08999	RBL2_HUMAN	0			14	2002	+	T	T			Silent	628			Spacer.|Pocket; binds E1A.			
RBM10	8241		GRCh37	X	47041361	47041361	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000329236.7:c.1471G>A	p.Val491Ile	p.V491I	ENST00000329236	NM_001204466.1	491	Gtc/Atc	0																																																																																																																																																																																																																																												
RBM15B	0	broad.mit.edu	GRCh37	3	51430156	51430156	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6700-01	TCGA-06-6700-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323686.4:c.1326G>A	p.Gly442=	p.G442=	ENST00000323686	NM_013286.4	442	ggG/ggA	0			1			A	G	uc003dbd.2	protein_coding	YES	CCDS33764.1			1326/2673										0	c.(1324-1326)GGG>GGA			PROSITE_profiles:PS50102,hmmpanther:PTHR23189:SF40,hmmpanther:PTHR23189,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928	RNA binding motif protein 15B				ENSP00000313890		1-Jan									COSM3408775	1-Jan	.		ENST00000323686	Transcript			interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding	ENSG00000179837	g.chr3:51430156G>A	24303			LOW								--	--	1																																			1	1			p.G442G	NM_013286	NP_037418			1	RB15B_HUMAN	RBM15B	HGNC	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)			1	1426	+			UPI0000160BDE	442			RRM 3.		SNV	RBM15B,synonymous_variant,p.=,ENST00000323686,NM_013286.4;VPRBP,downstream_gene_variant,,ENST00000423656,;MANF,downstream_gene_variant,,ENST00000528157,NM_006010.4;MANF,downstream_gene_variant,,ENST00000470900,;MANF,downstream_gene_variant,,ENST00000446668,;MANF,downstream_gene_variant,,ENST00000482262,;	uc003dbd.2	c.1326G>A	1426/6600	2	2			c.1326G>A						3	SNP	c.(1324-1326)GGG>GGA	36	36				0	Broad	RNA binding motif protein 15B			51430156		0.572	ENSG00000179837	12906	g.chr3:51430156G>A	interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding							-12.644398	KEEP	4	2	-1	53	64	4	2	-1	11.192593	53	64	0.053097	1	0	0	0	0	0	0	1	0	--	--		0	A				114	GBM-06-6700-TP	p.G442G	G	ACCGCTTTGGGAGCATTCGGA	NM_013286	NP_037418	51430156	Q8NDT2	RB15B_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	1426	+	A	A			Silent	442			RRM 3.			
RBM15B	29890		GRCh37	3	51429849	51429850	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000323686.4:c.1019_1020insA	p.Phe340LeufsTer4	p.F340Lfs*4	ENST00000323686	NM_013286.4	340	ttc/ttAc	0																																																																																																																																																																																																																																												
RBM18	92400	broad.mit.edu	GRCh37	9	125004210	125004210	+	stop_gained	Nonsense_Mutation	SNP	T	T	A			TCGA-06-0124-01	TCGA-06-0124-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000417201.3:c.526A>T	p.Lys176Ter	p.K176*	ENST00000417201	NM_033117.3	176	Aaa/Taa	0			1			A	K/*	uc004bma.2	protein_coding	YES	CCDS6839.1			526/573										0	c.(526-528)AAA>TAA			hmmpanther:PTHR21245	RNA binding motif protein 18				ENSP00000409315		6-Jun									COSM2149279	6-Jun	.		ENST00000417201	Transcript					nucleotide binding|RNA binding	ENSG00000119446	g.chr9:125004210T>A	28413			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,9,125004210,T,A&fts=all	K176*	--	--	1																																		RBM18_uc004blz.2_RNA|RBM18_uc010mvy.2_RNA|RBM18_uc011lyp.1_RNA	1	1			p.K176*	NM_033117	NP_149108			1	RBM18_HUMAN	RBM18	HGNC	Q96H35	RBM18_HUMAN					6	692	-			UPI0000046802	176					SNV	RBM18,stop_gained,p.Lys176Ter,ENST00000417201,NM_033117.3;RBM18,non_coding_transcript_exon_variant,,ENST00000483428,;RBM18,non_coding_transcript_exon_variant,,ENST00000491850,;	uc004bma.2	c.526A>T	667/4974	5	2			c.526A>T						9	SNP	c.(526-528)AAA>TAA	41	41				0	Broad	RNA binding motif protein 18			125004210		0.398	ENSG00000119446	12909	g.chr9:125004210T>A			nucleotide binding|RNA binding							98.739952	KEEP	20	22	-1	76	33	20	22	-1	104.666011	76	33	0.283688	1	0	0	0	0	0	1	0	0	--	--		0	A			RBM18_uc004blz.2_RNA|RBM18_uc010mvy.2_RNA|RBM18_uc011lyp.1_RNA	11	GBM-06-0124-TP	p.K176*	T	GTAGTCCTTTTTTTATCTGGT	NM_033117	NP_149108	125004210	Q96H35	RBM18_HUMAN	0			6	692	-	A	A			Nonsense_Mutation	176						
RBM18	92400	broad.mit.edu	GRCh37	9	125004227	125004227	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs111532590		TCGA-06-0124-01	TCGA-06-0124-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000417201.3:c.509T>G	p.Phe170Cys	p.F170C	ENST00000417201	NM_033117.3	170	tTt/tGt	0			1			C	F/C	uc004bma.2	protein_coding	YES	CCDS6839.1			509/573										0	c.(508-510)TTT>TGT			hmmpanther:PTHR21245	RNA binding motif protein 18				ENSP00000409315		6-Jun									COSM2149269	6-Jun	.		ENST00000417201	Transcript					nucleotide binding|RNA binding	ENSG00000119446	g.chr9:125004227A>C	28413			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=RBM18_HUMAN&rb=101&re=190&var=F170C	NA	getma.org/?cm=var&var=hg19,9,125004227,A,C&fts=all	F170C	--	--	1																																		RBM18_uc004blz.2_RNA|RBM18_uc010mvy.2_RNA|RBM18_uc011lyp.1_RNA	1	1		benign(0.43)	p.F170C	NM_033117	NP_149108		tolerated(0.18)	1	RBM18_HUMAN	RBM18	HGNC	Q96H35	RBM18_HUMAN					6	675	-			UPI0000046802	170					SNV	RBM18,missense_variant,p.Phe170Cys,ENST00000417201,NM_033117.3;RBM18,non_coding_transcript_exon_variant,,ENST00000483428,;RBM18,non_coding_transcript_exon_variant,,ENST00000491850,;	uc004bma.2	c.509T>G	650/4974	4	4			c.509T>G						9	SNP	c.(508-510)TTT>TGT	44	44				0	Broad	RNA binding motif protein 18			125004227		0.403	ENSG00000119446	12909	g.chr9:125004227A>C			nucleotide binding|RNA binding							105.976458	KEEP	17	19	-1	67	29	17	19	-1	111.412489	67	29	0.28	1	0	0	0	0	1	0	0	0	--	--		0	C			RBM18_uc004blz.2_RNA|RBM18_uc010mvy.2_RNA|RBM18_uc011lyp.1_RNA	11	GBM-06-0124-TP	p.F170C	A	TGGTGGCTTAAAGTAGGAATA	NM_033117	NP_149108	125004227	Q96H35	RBM18_HUMAN	0			6	675	-	C	C			Missense_Mutation	170						
RBM19	0	broad.mit.edu	GRCh37	12	114282577	114282577	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-5220-01	TCGA-28-5220-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261741.5:c.2681T>C	p.Leu894Pro	p.L894P	ENST00000261741	NM_016196.3	894	cTg/cCg	0			1			G	L/P	uc009zwi.2	protein_coding		CCDS9172.1			2681/2883									skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	c.(2680-2682)CTG>CCG			Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF312,SMART_domains:SM00360,Superfamily_domains:SSF54928	RNA binding motif protein 19				ENSP00000261741		23/24									COSM3398387	23/24	.		ENST00000261741	Transcript			multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	ENSG00000122965	g.chr12:114282577A>G	29098			MODERATE		3.025	medium	getma.org/?cm=msa&ty=f&p=RBM19_HUMAN&rb=834&re=906&var=L894P	getma.org/pdb.php?prot=RBM19_HUMAN&from=834&to=906&var=L894P	getma.org/?cm=var&var=hg19,12,114282577,A,G&fts=all	L894P	--	--	1																																		RBM19_uc001tvn.3_Missense_Mutation_p.L894P|RBM19_uc001tvm.2_Missense_Mutation_p.L894P	1			probably_damaging(1)	p.L894P	NM_001146699	NP_001140171		deleterious(0)	1	RBM19_HUMAN	RBM19	HGNC	Q9Y4C8	RBM19_HUMAN					23	2825	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		UPI000013D1EC	894			RRM 6.		SNV	RBM19,missense_variant,p.Leu894Pro,ENST00000545145,NM_001146699.1;RBM19,missense_variant,p.Leu894Pro,ENST00000261741,NM_016196.3;RBM19,missense_variant,p.Leu894Pro,ENST00000392561,NM_001146698.1;RBM19,missense_variant,p.Leu44Pro,ENST00000552384,;	uc009zwi.2	c.2681T>C	2825/4194	3	3			c.2681T>C						12	SNP	c.(2680-2682)CTG>CCG	52	52			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Broad	RNA binding motif protein 19			114282577		0.637	ENSG00000122965	12910	g.chr12:114282577A>G	multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding							120.337119	KEEP	28	14	-1	31	32	28	14	-1	120.943415	31	32	0.413043	1	0	0	0	0	1	0	0	0	--	--		0	G			RBM19_uc001tvn.3_Missense_Mutation_p.L894P|RBM19_uc001tvm.2_Missense_Mutation_p.L894P	226	GBM-28-5220-TP	p.L894P	A	GCTGTGACACAGGGCGTTGAA	NM_001146699	NP_001140171	114282577	Q9Y4C8	RBM19_HUMAN	0			23	2825	-	G	G	Medulloblastoma(191;0.163)|all_neural(191;0.178)		Missense_Mutation	894			RRM 6.			
RBM19	9904		GRCh37	12	114282581	114282581	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000545145.2:c.2677G>A	p.Ala893Thr	p.A893T	ENST00000545145	NM_001146699.1	893	Gcc/Acc	0																																																																																																																																																																																																																																												
RBM25	58517	broad.mit.edu	GRCh37	14	73569957	73569957	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01	TCGA-06-0214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261973.7:c.925C>T	p.Arg309Trp	p.R309W	ENST00000261973	NM_021239.2	309	Cgg/Tgg	0			1			T	R/W	uc001xno.2	protein_coding	YES	CCDS32113.1			925/2532									central_nervous_system(2)|ovary(1)|breast(1)	4	c.(925-927)CGG>TGG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18806,Low_complexity_(Seg):seg	RNA binding motif protein 25				ENSP00000261973		19-Oct									COSM2136862	19-Oct	.		ENST00000261973	Transcript			apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	ENSG00000119707	g.chr14:73569957C>T	23244			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=RBM25_HUMAN&rb=159&re=358&var=R309W	NA	getma.org/?cm=var&var=hg19,14,73569957,C,T&fts=all	R309W	--	--	1																																		RBM25_uc010ttu.1_Missense_Mutation_p.R309W|RBM25_uc001xnp.2_Missense_Mutation_p.R104W	1	1		unknown(0)	p.R309W	NM_021239	NP_067062			1	RBM25_HUMAN	RBM25	HGNC	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	Q16083_HUMAN,E9PSE8_HUMAN,E9PQU5_HUMAN		10	1133	+			UPI0000373D58	309			Necessary for nuclear speckle localization.|Glu-rich.|Arg-rich.		SNV	RBM25,missense_variant,p.Arg309Trp,ENST00000261973,NM_021239.2;RBM25,missense_variant,p.Arg309Trp,ENST00000527432,;RBM25,downstream_gene_variant,,ENST00000525321,;RBM25,downstream_gene_variant,,ENST00000526754,;RBM25,downstream_gene_variant,,ENST00000540173,;RBM25,downstream_gene_variant,,ENST00000532192,;RBM25,upstream_gene_variant,,ENST00000532483,;RBM25,3_prime_UTR_variant,,ENST00000528081,;RBM25,non_coding_transcript_exon_variant,,ENST00000532683,;RBM25,upstream_gene_variant,,ENST00000527449,;	uc001xno.2	c.925C>T	1210/4426	2	2			c.925C>T						14	SNP	c.(925-927)CGG>TGG	25	25			central_nervous_system(2)|ovary(1)|breast(1)	4	Broad	RNA binding motif protein 25			73569957		0.085	ENSG00000119707	12914	g.chr14:73569957C>T	apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding							7.284799	KEEP	3	1	-1	8	13	3	1	-1	10.036148	8	13	0.16	1	0	0	0	0	1	0	0	0	--	--		0	T			RBM25_uc010ttu.1_Missense_Mutation_p.R309W|RBM25_uc001xnp.2_Missense_Mutation_p.R104W	50	GBM-06-0214-TP	p.R309W	C	tgagaaagaacggagagaaag	NM_021239	NP_067062	73569957	P49756	RBM25_HUMAN	0		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	10	1133	+	T	T			Missense_Mutation	309			Necessary for nuclear speckle localization.|Glu-rich.|Arg-rich.			
RBM25	58517	broad.mit.edu	GRCh37	14	73578261	73578261	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0644-01	TCGA-06-0644-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261973.7:c.2043T>C	p.Pro681=	p.P681=	ENST00000261973	NM_021239.2	681	ccT/ccC	0			1			C	P	uc001xno.2	protein_coding	YES	CCDS32113.1			2043/2532									central_nervous_system(2)|ovary(1)|breast(1)	4	c.(2041-2043)CCT>CCC			hmmpanther:PTHR18806	RNA binding motif protein 25				ENSP00000261973		16/19									COSM385320	16/19	.		ENST00000261973	Transcript			apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	ENSG00000119707	g.chr14:73578261T>C	23244			LOW								--	--	1																																		RBM25_uc010ttu.1_Silent_p.P681P|RBM25_uc001xnp.2_Silent_p.P476P	1	1			p.P681P	NM_021239	NP_067062			1	RBM25_HUMAN	RBM25	HGNC	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	Q16083_HUMAN,E9PSE8_HUMAN,E9PQU5_HUMAN		16	2251	+			UPI0000373D58	681					SNV	RBM25,synonymous_variant,p.=,ENST00000261973,NM_021239.2;RBM25,synonymous_variant,p.=,ENST00000527432,;RBM25,non_coding_transcript_exon_variant,,ENST00000532483,;RBM25,3_prime_UTR_variant,,ENST00000528081,;RBM25,non_coding_transcript_exon_variant,,ENST00000532683,;RBM25,non_coding_transcript_exon_variant,,ENST00000527449,;RBM25,downstream_gene_variant,,ENST00000530978,;	uc001xno.2	c.2043T>C	2328/4426	4	4			c.2043T>C						14	SNP	c.(2041-2043)CCT>CCC	35	35			central_nervous_system(2)|ovary(1)|breast(1)	4	Broad	RNA binding motif protein 25			73578261		0.388	ENSG00000119707	12914	g.chr14:73578261T>C	apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding							-28.20159	KEEP	4	1	-1	73	85	4	1	-1	7.346833	73	85	0.021583	1	0	0	0	0	0	0	1	0	--	--		0	C			RBM25_uc010ttu.1_Silent_p.P681P|RBM25_uc001xnp.2_Silent_p.P476P	58	GBM-06-0644-TP	p.P681P	T	CTGGTCAGCCTAATTCTGTGA	NM_021239	NP_067062	73578261	P49756	RBM25_HUMAN	0		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	16	2251	+	C	C			Silent	681						
RBM25	58517		GRCh37	14	73578303	73578303	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-28-2510-01	TCGA-28-2510-01																				ENST00000261973.7:c.2085T>C	p.Phe695=	p.F695=	ENST00000261973	NM_021239.2	695	ttT/ttC	0																																																																																																																																																																																																																																												
RBM27	54439	broad.mit.edu	GRCh37	5	145598558	145598558	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01	TCGA-06-0241-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265271.5:c.70G>A	p.Asp24Asn	p.D24N	ENST00000265271	NM_018989.1	24	Gat/Aat	0			1			A	D/N	uc003lnz.3	protein_coding	YES	CCDS43378.1			70/3183									central_nervous_system(2)|pancreas(1)	3	c.(70-72)GAT>AAT			Gene3D:1mp1A00,Pfam_domain:PF01480,hmmpanther:PTHR14398,hmmpanther:PTHR14398:SF1	RNA binding motif protein 27				ENSP00000265271		21-Feb									COSM2151116	21-Feb	.		ENST00000265271	Transcript			mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	ENSG00000091009	g.chr5:145598558G>A	29243			MODERATE		3.25	medium	getma.org/?cm=msa&ty=f&p=RBM27_HUMAN&rb=6&re=77&var=D24N	NA	getma.org/?cm=var&var=hg19,5,145598558,G,A&fts=all	D24N	--	--	1																																		RBM27_uc003lny.2_Missense_Mutation_p.D24N	1	1		probably_damaging(0.996)	p.D24N	NM_018989	NP_061862		deleterious(0)	1	RBM27_HUMAN	RBM27	HGNC	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)				2	236	+			UPI00001D7F03	24					SNV	RBM27,missense_variant,p.Asp24Asn,ENST00000265271,NM_018989.1;RBM27,missense_variant,p.Asp24Asn,ENST00000506502,;	uc003lnz.3	c.70G>A	236/6451	1	1			c.70G>A						5	SNP	c.(70-72)GAT>AAT	61	61			central_nervous_system(2)|pancreas(1)	3	Broad	RNA binding motif protein 27			145598558		0.333	ENSG00000091009	12916	g.chr5:145598558G>A	mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding							279.474761	KEEP	60	47	-1	64	53	60	47	-1	279.514981	64	53	0.484848	1	0	0	0	0	1	0	0	0	--	--		0	A			RBM27_uc003lny.2_Missense_Mutation_p.D24N	57	GBM-06-0241-TP	p.D24N	G	ATGTGATGCTGATCCTTCAGC	NM_018989	NP_061862	145598558	Q9P2N5	RBM27_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	236	+	A	A			Missense_Mutation	24						
RBM28	55131		GRCh37	7	127954955	127954956	+	missense_variant	Missense_Mutation	DNP	GG	GG	TT			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000223073.2:c.1906_1907delinsAA	p.Pro636Lys	p.P636K	ENST00000223073	NM_018077.2	636	CCa/AAa	0																																																																																																																																																																																																																																												
RBM28	55131		GRCh37	7	127979698	127979698	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000223073.2:c.266A>G	p.Lys89Arg	p.K89R	ENST00000223073	NM_018077.2	89	aAg/aGg	0																																																																																																																																																																																																																																												
RBM33	155435	broad.mit.edu	GRCh37	7	155538204	155538204	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0209-01	TCGA-06-0209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000401878.3:c.2887G>T	p.Val963Leu	p.V963L	ENST00000401878	NM_053043.2	963	Gtg/Ttg	0			1			T	V/L	uc010lqk.1	protein_coding	YES	CCDS5941.2			2887/3513									ovary(1)	1	c.(2887-2889)GTG>TTG			hmmpanther:PTHR22014,hmmpanther:PTHR22014:SF2	RNA binding motif protein 33				ENSP00000384160		14/18									COSM3411852,COSM3411853	14/18	.		ENST00000401878	Transcript					nucleotide binding|RNA binding	ENSG00000184863	g.chr7:155538204G>T	27223			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=RBM33_HUMAN&rb=193&re=1168&var=V963L	NA	getma.org/?cm=var&var=hg19,7,155538204,G,T&fts=all	V963L	--	--	1																																		RBM33_uc011kvv.1_Missense_Mutation_p.V772L|RBM33_uc003wmg.2_5'Flank	1,1	1		unknown(0)	p.V963L	NM_053043	NP_444271		tolerated(0.09)	1,1	RBM33_HUMAN	RBM33	HGNC	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	C9J7M3_HUMAN		14	3255	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	UPI00015743D7	963					SNV	RBM33,missense_variant,p.Val963Leu,ENST00000401878,NM_053043.2;RBM33,missense_variant,p.Val735Leu,ENST00000392761,;RBM33,upstream_gene_variant,,ENST00000341148,;RBM33,upstream_gene_variant,,ENST00000438356,;RBM33,3_prime_UTR_variant,,ENST00000307403,;	uc010lqk.1	c.2887G>T	3085/10149	2	2			c.2887G>T						7	SNP	c.(2887-2889)GTG>TTG	24	24			ovary(1)	1	Broad	RNA binding motif protein 33			155538204		0.602	ENSG00000184863	12919	g.chr7:155538204G>T			nucleotide binding|RNA binding							21.081096	KEEP	3	7	0.3	11	21	3	7	0.3	23.828818	11	21	0.216216	1	0	0	0	0	1	0	0	0	--	--		0	T			RBM33_uc011kvv.1_Missense_Mutation_p.V772L|RBM33_uc003wmg.2_5'Flank	46	GBM-06-0209-TP	p.V963L	G	AAAGCCTGGCGTGAAAAGGAC	NM_053043	NP_444271	155538204	Q96EV2	RBM33_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	14	3255	+	T	T	all_neural(206;0.101)	all_hematologic(28;0.0592)	Missense_Mutation	963						
RBM38	55544	broad.mit.edu	GRCh37	20	55968365	55968365	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0209-01	TCGA-06-0209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356208.5:c.392C>G	p.Pro131Arg	p.P131R	ENST00000356208	NM_017495.5	131	cCc/cGc	0			1			G	P/R	uc010zzj.1	protein_coding	YES	CCDS46617.1			392/720										0	c.(391-393)CCC>CGC			hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF251	RNA-binding region containing protein 1 isoform				ENSP00000348538		4-Mar									COSM3405224	4-Mar	.		ENST00000356208	Transcript			3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|cytosol|nucleus|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding	ENSG00000132819	g.chr20:55968365C>G	15818			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=RBM38_HUMAN&rb=105&re=239&var=P131R	NA	getma.org/?cm=var&var=hg19,20,55968365,C,G&fts=all	P131R	--	--	1																																		RBM38_uc010zzk.1_Intron	1	1		probably_damaging(0.993)	p.P131R	NM_017495	NP_059965		deleterious(0)	1	RBM38_HUMAN	RBM38	HGNC	Q9H0Z9	RBM38_HUMAN	BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)		H0UI71_HUMAN,A6NG75_HUMAN		3	567	+	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		UPI00001C1571	131					SNV	RBM38,missense_variant,p.Pro131Arg,ENST00000356208,NM_017495.5;RBM38,missense_variant,p.Pro50Arg,ENST00000371219,;RBM38,intron_variant,,ENST00000440234,NM_183425.2;RP4-800J21.3,upstream_gene_variant,,ENST00000417346,;RBM38,missense_variant,p.Pro108Arg,ENST00000344785,;RBM38,3_prime_UTR_variant,,ENST00000342690,;	uc010zzj.1	c.392C>G	567/2382	4	4			c.392C>G						20	SNP	c.(391-393)CCC>CGC	21	21				0	Broad	RNA-binding region containing protein 1 isoform			55968365		0.597	ENSG00000132819	12921	g.chr20:55968365C>G	3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|cytosol|nucleus|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding							85.863223	KEEP	20	35	-1	165	153	20	35	-1	120.358111	165	153	0.153333	1	0	0	0	0	1	0	0	0	--	--		0	G			RBM38_uc010zzk.1_Intron	46	GBM-06-0209-TP	p.P131R	C	CAGCTGCACCCCACCTTGATC	NM_017495	NP_059965	55968365	Q9H0Z9	RBM38_HUMAN	0	BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)		3	567	+	G	G	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		Missense_Mutation	131						
RBM4	0	broad.mit.edu	GRCh37	11	66411364	66411384	+	inframe_deletion	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-14-0813-01	TCGA-14-0813-01	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310092.7:c.866_886delCAGCAGCAGCCGCTGCTGCTG	p.Ala289_Ala295del	p.A289_A295del	ENST00000310092	NM_002896.3	286	GCTGCTGCTGCAGCAGCAGCC/-	0			1			-	AAAAAAA/-	uc009yrj.2	protein_coding		CCDS41676.1			856-876/1095									ovary(1)	1	c.(856-876)GCTGCTGCTGCAGCAGCAGCCdel			Low_complexity_(Seg):seg,hmmpanther:PTHR24012:SF242,hmmpanther:PTHR24012	RNA binding motif protein 4				ENSP00000309166		4-Mar	0.000439	0.000746	0.000521	0.000586		0.000502		0.000121	rs773057844	4-Mar	common_variant		ENST00000310092	Transcript			circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding	ENSG00000173933	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	9901	10		MODERATE								--	--	1																																		RBM4_uc009yrk.2_In_Frame_Del_p.AAAAAAA261del|RBM4_uc001oiw.1_In_Frame_Del_p.AAAAAAA286del|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_In_Frame_Del_p.AAAAAAA286del|RBM4_uc001oiz.1_In_Frame_Del_p.AAAAAAA286del					p.AAAAAAA286del	NM_002896	NP_002887				RBM4_HUMAN	RBM4	HGNC	Q9BWF3	RBM4_HUMAN		Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)			3	1344_1364	+			UPI0000073FC1	286_292			Interaction with TNPO3.|Poly-Ala.		deletion	RBM4,inframe_deletion,p.Ala289_Ala295del,ENST00000409406,;RBM4,inframe_deletion,p.Ala289_Ala295del,ENST00000503028,;RBM4,inframe_deletion,p.Ala289_Ala295del,ENST00000408993,;RBM4,inframe_deletion,p.Ala289_Ala295del,ENST00000310092,NM_002896.3;RBM14-RBM4,inframe_deletion,p.Ala264_Ala270del,ENST00000412278,NM_001198845.1;RBM4,inframe_deletion,p.Ala264_Ala270del,ENST00000514361,;RBM4,inframe_deletion,p.Ala179_Ala185del,ENST00000510173,;RBM4,intron_variant,,ENST00000396053,NM_001198844.1;RBM4,intron_variant,,ENST00000530235,;RBM4,intron_variant,,ENST00000398692,NM_001198843.1;RBM14-RBM4,intron_variant,,ENST00000500635,NM_001198846.1;RBM4,intron_variant,,ENST00000506523,;RBM4,intron_variant,,ENST00000578778,;RBM4,downstream_gene_variant,,ENST00000483858,;RBM4,downstream_gene_variant,,ENST00000532968,;RBM4,non_coding_transcript_exon_variant,,ENST00000515838,;RBM4,intron_variant,,ENST00000528039,;RBM14-RBM4,3_prime_UTR_variant,,ENST00000421355,;	uc009yrj.2	c.856_876delGCTGCTGCTGCAGCAGCAGCC	1004-1024/1694	5	5			c.856_876delGCTGCTGCTGCAGCAGCAGCC						11	DEL	c.(856-876)GCTGCTGCTGCAGCAGCAGCCdel	29	29			ovary(1)	1	Broad	RNA binding motif protein 4			66411384		0.457	ENSG00000173933	12923	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding																				0.09	1	1	0	1	0	0	0	0	0	--	--		0	-			RBM4_uc009yrk.2_In_Frame_Del_p.AAAAAAA261del|RBM4_uc001oiw.1_In_Frame_Del_p.AAAAAAA286del|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_In_Frame_Del_p.AAAAAAA286del|RBM4_uc001oiz.1_In_Frame_Del_p.AAAAAAA286del	138	GBM-14-0813-TP	p.AAAAAAA286del	GCTGCTGCTGCAGCAGCAGCC	tgctgccacagctgctgctgcagcagcagccgctgctgctg	NM_002896	NP_002887	66411364	Q9BWF3	RBM4_HUMAN	0		Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)	3	1344_1364	+	-	-			In_Frame_Del	286_292			Interaction with TNPO3.|Poly-Ala.			
RBM4	0	broad.mit.edu	GRCh37	11	66411465	66411465	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5951-01	TCGA-19-5951-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310092.7:c.957C>T	p.Pro319=	p.P319=	ENST00000310092	NM_002896.3	319	ccC/ccT	0			1			T	P	uc009yrj.2	protein_coding		CCDS41676.1			957/1095									ovary(1)	1	c.(955-957)CCC>CCT			hmmpanther:PTHR24012:SF242,hmmpanther:PTHR24012	RNA binding motif protein 4				ENSP00000309166		4-Mar	8.25E-06		8.65E-05						rs777485002,COSM2156631	4-Mar	.		ENST00000310092	Transcript			circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding	ENSG00000173933	g.chr11:66411465C>T	9901			LOW								--	--	1																																		RBM4_uc009yrk.2_Silent_p.P294P|RBM4_uc001oiw.1_Silent_p.P319P|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Silent_p.P319P|RBM4_uc001oiz.1_Silent_p.P319P	0,1				p.P319P	NM_002896	NP_002887			0,1	RBM4_HUMAN	RBM4	HGNC	Q9BWF3	RBM4_HUMAN		Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)			3	1445	+			UPI0000073FC1	319			Interaction with TNPO3.		SNV	RBM4,synonymous_variant,p.=,ENST00000409406,;RBM4,synonymous_variant,p.=,ENST00000503028,;RBM4,synonymous_variant,p.=,ENST00000408993,;RBM4,synonymous_variant,p.=,ENST00000310092,NM_002896.3;RBM14-RBM4,synonymous_variant,p.=,ENST00000412278,NM_001198845.1;RBM4,synonymous_variant,p.=,ENST00000514361,;RBM4,synonymous_variant,p.=,ENST00000510173,;RBM4,intron_variant,,ENST00000396053,NM_001198844.1;RBM4,intron_variant,,ENST00000530235,;RBM4,intron_variant,,ENST00000398692,NM_001198843.1;RBM14-RBM4,intron_variant,,ENST00000500635,NM_001198846.1;RBM4,intron_variant,,ENST00000506523,;RBM4,intron_variant,,ENST00000578778,;RBM4,downstream_gene_variant,,ENST00000483858,;RBM4,downstream_gene_variant,,ENST00000532968,;RBM4,non_coding_transcript_exon_variant,,ENST00000515838,;RBM4,intron_variant,,ENST00000528039,;RBM14-RBM4,3_prime_UTR_variant,,ENST00000421355,;	uc009yrj.2	c.957C>T	1105/1694	1	1			c.957C>T						11	SNP	c.(955-957)CCC>CCT	2	2			ovary(1)	1	Broad	RNA binding motif protein 4			66411465		0.493	ENSG00000173933	12923	g.chr11:66411465C>T	circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding							136.981937	KEEP	22	27	-1	28	38	22	27	-1	137.347092	28	38	0.435644	1	0	0	0	0	0	0	1	0	--	--		0	T			RBM4_uc009yrk.2_Silent_p.P294P|RBM4_uc001oiw.1_Silent_p.P319P|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Silent_p.P319P|RBM4_uc001oiz.1_Silent_p.P319P	171	GBM-19-5951-TP	p.P319P	C	CCCCAGTCCCCACTGTTGGAG	NM_002896	NP_002887	66411465	Q9BWF3	RBM4_HUMAN	0		Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)	3	1445	+	T	T			Silent	319			Interaction with TNPO3.			
RBM44	375316	broad.mit.edu	GRCh37	2	238738022	238738022	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5412-01	TCGA-06-5412-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316997.4:c.2766G>A	p.Ser922=	p.S922=	ENST00000316997	NM_001080504.2	922	tcG/tcA	0	A:0		1			A	S	uc002vxi.3	protein_coding	YES	CCDS46554.1			2766/3159									ovary(4)	4	c.(2764-2766)TCG>TCA			hmmpanther:PTHR10548,hmmpanther:PTHR10548:SF94	RNA binding motif protein 44			A:0.0002	ENSP00000321179		13/16	1.66E-05					3.01E-05			rs376575329,COSM1018496,COSM1018497	13/16	.		ENST00000316997	Transcript					nucleotide binding|RNA binding	ENSG00000177483	g.chr2:238738022G>A	24756			LOW								--	--	1																																			0,1,1	1			p.S922S	NM_001080504	NP_001073973			0,1,1	RBM44_HUMAN	RBM44	HGNC	Q6ZP01	RBM44_HUMAN		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)			13	2898	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	UPI000179A941	921					SNV	RBM44,synonymous_variant,p.=,ENST00000316997,NM_001080504.2;RBM44,synonymous_variant,p.=,ENST00000409864,;RBM44,non_coding_transcript_exon_variant,,ENST00000480583,;RBM44,upstream_gene_variant,,ENST00000491996,;	uc002vxi.3	c.2766G>A	2898/4282	2	2			c.2766G>A						2	SNP	c.(2764-2766)TCG>TCA	29	29			ovary(4)	4	Broad	RNA binding motif protein 44			238738022		0.388	ENSG00000177483	12927	g.chr2:238738022G>A			nucleotide binding|RNA binding							23.426872	KEEP	6	4	-1	21	19	6	4	-1	26.813114	21	19	0.217391	1	0	0	0	0	0	0	1	0	--	--		0	A				95	GBM-06-5412-TP	p.S922S	G	GAATTAGTTCGAATAATTTAG	NM_001080504	NP_001073973	238738022	Q6ZP01	RBM44_HUMAN	0		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	13	2898	+	A	A		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	Silent	921						
RBM44	0	broad.mit.edu	GRCh37	2	238726827	238726827	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-2491-01	TCGA-32-2491-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316997.4:c.1268A>G	p.Gln423Arg	p.Q423R	ENST00000316997	NM_001080504.2	423	cAg/cGg	0	G:0	G:0	1	G:0		G	Q/R	uc002vxi.3	protein_coding	YES	CCDS46554.1			1268/3159									ovary(4)	4	c.(1267-1269)CAG>CGG				RNA binding motif protein 44		G:0	G:0.0006	ENSP00000321179	G:0.001	16-Mar	0.000174					0.000319			rs199755747,COSM3407724,COSM3407723	16-Mar	.		ENST00000316997	Transcript		G:0.0002			nucleotide binding|RNA binding	ENSG00000177483	g.chr2:238726827A>G	24756			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=RBM44_HUMAN&rb=401&re=600&var=Q422R	NA	getma.org/?cm=var&var=hg19,2,238726827,A,G&fts=all	Q422R	--	--	1																																			0,1,1	1		possibly_damaging(0.853)	p.Q423R	NM_001080504	NP_001073973	G:0	tolerated(0.06)	0,1,1	RBM44_HUMAN	RBM44	HGNC	Q6ZP01	RBM44_HUMAN		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)			3	1400	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	UPI000179A941	422					SNV	RBM44,missense_variant,p.Gln423Arg,ENST00000316997,NM_001080504.2;RBM44,missense_variant,p.Gln423Arg,ENST00000409864,;RBM44,intron_variant,,ENST00000444524,;LRRFIP1,downstream_gene_variant,,ENST00000489603,;RBM44,non_coding_transcript_exon_variant,,ENST00000480583,;	uc002vxi.3	c.1268A>G	1400/4282	3	3			c.1268A>G						2	SNP	c.(1267-1269)CAG>CGG	55	55			ovary(4)	4	Broad	RNA binding motif protein 44			238726827		0.368	ENSG00000177483	12927	g.chr2:238726827A>G			nucleotide binding|RNA binding							-0.980647	KEEP	0	2	-1	18	16	0	2	-1	6.500102	18	16	0.055556	1	0	0	0	0	1	0	0	0	--	--		0	G				235	GBM-32-2491-TP	p.Q423R	A	AGAGATAATCAGGCAATAGAA	NM_001080504	NP_001073973	238726827	Q6ZP01	RBM44_HUMAN	0		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	3	1400	+	G	G		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	Missense_Mutation	422						
RBM44	375316		GRCh37	2	238727201	238727201	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000316997.4:c.1642G>A	p.Val548Ile	p.V548I	ENST00000316997	NM_001080504.2	548	Gtt/Att	0																																																																																																																																																																																																																																												
RBM46	166863	broad.mit.edu	GRCh37	4	155719190	155719190	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-1804-01	TCGA-06-1804-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281722.3:c.379C>T	p.Arg127Ter	p.R127*	ENST00000281722	NM_144979.4	127	Cga/Tga	0			1			T	R/*	uc003ioo.2	protein_coding	YES	CCDS3790.1			379/1602									central_nervous_system(1)|skin(1)	2	c.(379-381)CGA>TGA			Superfamily_domains:SSF54928,SMART_domains:SM00360,TIGRFAM_domain:TIGR01648,Gene3D:3.30.70.330,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF272,PROSITE_profiles:PS50102	RNA binding motif protein 46				ENSP00000281722		5-Mar									COSM2152493	5-Mar	.		ENST00000281722	Transcript					nucleotide binding|RNA binding	ENSG00000151962	g.chr4:155719190C>T	28401			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,4,155719190,C,T&fts=all	R127*	--	--	1																																		RBM46_uc011cim.1_Nonsense_Mutation_p.R127*|RBM46_uc003iop.1_Nonsense_Mutation_p.R127*	1	1			p.R127*	NM_144979	NP_659416			1	RBM46_HUMAN	RBM46	HGNC	Q8TBY0	RBM46_HUMAN			D6RF41_HUMAN		3	552	+	all_hematologic(180;0.24)	Renal(120;0.0854)	UPI000007173F	127			RRM 1.		SNV	RBM46,stop_gained,p.Arg127Ter,ENST00000510397,NM_001277173.1;RBM46,stop_gained,p.Arg127Ter,ENST00000281722,NM_144979.4;RBM46,stop_gained,p.Arg127Ter,ENST00000514866,NM_001277171.1;RBM46,stop_gained,p.Arg127Ter,ENST00000512640,;	uc003ioo.2	c.379C>T	614/2583	5	2			c.379C>T						4	SNP	c.(379-381)CGA>TGA	48	48			central_nervous_system(1)|skin(1)	2	Broad	RNA binding motif protein 46			155719190		0.338	ENSG00000151962	12929	g.chr4:155719190C>T			nucleotide binding|RNA binding							50.471549	KEEP	7	12	-1	8	19	7	12	-1	50.731262	8	19	0.414634	1	0	0	0	0	0	1	0	0	--	--		0	T			RBM46_uc011cim.1_Nonsense_Mutation_p.R127*|RBM46_uc003iop.1_Nonsense_Mutation_p.R127*	79	GBM-06-1804-TP	p.R127*	C	TTATGAAATTCGACCAGGGAA	NM_144979	NP_659416	155719190	Q8TBY0	RBM46_HUMAN	0			3	552	+	T	T	all_hematologic(180;0.24)	Renal(120;0.0854)	Nonsense_Mutation	127			RRM 1.			
RBM46	0	broad.mit.edu	GRCh37	4	155720138	155720138	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-14-0740-01	TCGA-14-0740-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281722.3:c.824T>C	p.Phe275Ser	p.F275S	ENST00000281722	NM_144979.4	275	tTt/tCt	0			1			C	F/S	uc003ioo.2	protein_coding	YES	CCDS3790.1			824/1602									central_nervous_system(1)|skin(1)	2	c.(823-825)TTT>TCT			Superfamily_domains:SSF54928,SMART_domains:SM00360,TIGRFAM_domain:TIGR01648,Gene3D:3.30.70.330,Pfam_domain:PF00076,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF272,PROSITE_profiles:PS50102	RNA binding motif protein 46				ENSP00000281722		5-Apr									COSM3409120	5-Apr	.		ENST00000281722	Transcript					nucleotide binding|RNA binding	ENSG00000151962	g.chr4:155720138T>C	28401			MODERATE		3.53	high	getma.org/?cm=msa&ty=f&p=RBM46_HUMAN&rb=238&re=302&var=F275S	getma.org/pdb.php?prot=RBM46_HUMAN&from=238&to=302&var=F275S	getma.org/?cm=var&var=hg19,4,155720138,T,C&fts=all	F275S	--	--	1																																		RBM46_uc011cim.1_Missense_Mutation_p.F275S|RBM46_uc003iop.1_Missense_Mutation_p.F275S	1	1		probably_damaging(0.997)	p.F275S	NM_144979	NP_659416		deleterious(0)	1	RBM46_HUMAN	RBM46	HGNC	Q8TBY0	RBM46_HUMAN			D6RF41_HUMAN		4	997	+	all_hematologic(180;0.24)	Renal(120;0.0854)	UPI000007173F	275			RRM 3.		SNV	RBM46,missense_variant,p.Phe275Ser,ENST00000510397,NM_001277173.1;RBM46,missense_variant,p.Phe275Ser,ENST00000281722,NM_144979.4;RBM46,missense_variant,p.Phe275Ser,ENST00000514866,NM_001277171.1;RBM46,downstream_gene_variant,,ENST00000512640,;	uc003ioo.2	c.824T>C	1059/2583	4	4			c.824T>C						4	SNP	c.(823-825)TTT>TCT	33	33			central_nervous_system(1)|skin(1)	2	Broad	RNA binding motif protein 46			155720138		0.363	ENSG00000151962	12929	g.chr4:155720138T>C			nucleotide binding|RNA binding							39.820628	KEEP	7	5	-1	9	13	7	5	-1	40.10156	9	13	0.392857	1	0	0	0	0	1	0	0	0	--	--		0	C			RBM46_uc011cim.1_Missense_Mutation_p.F275S|RBM46_uc003iop.1_Missense_Mutation_p.F275S	132	GBM-14-0740-TP	p.F275S	T	GATTATGCTTTTGTTCACTTT	NM_144979	NP_659416	155720138	Q8TBY0	RBM46_HUMAN	0			4	997	+	C	C	all_hematologic(180;0.24)	Renal(120;0.0854)	Missense_Mutation	275			RRM 3.			
RBM47	54502	broad.mit.edu	GRCh37	4	40440818	40440818	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0124-01	TCGA-06-0124-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381793.2:c.93C>T	p.Asn31=	p.N31=	ENST00000381793		31	aaC/aaT	0			1			A	N	uc003gvc.2	protein_coding		CCDS43223.1			93/1782									breast(3)	3	c.(91-93)AAC>AAT			hmmpanther:PTHR24012:SF300,hmmpanther:PTHR24012,TIGRFAM_domain:TIGR01648	RNA binding motif protein 47 isoform a				ENSP00000295971		7-Apr	8.88E-06								rs748709342,COSM3409304,COSM3409303,COSM3409302	7-Apr	.		ENST00000295971	Transcript				nucleus	nucleotide binding|RNA binding	ENSG00000163694	g.chr4:40440818G>A	30358			LOW								--	--	1																																		RBM47_uc003gvd.2_Silent_p.N31N|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Intron|RBM47_uc003gvg.1_Silent_p.N31N	0,1,1,1				p.N31N	NM_001098634	NP_001092104			0,1,1,1	RBM47_HUMAN	RBM47	HGNC	A0AV96	RBM47_HUMAN			D6RFL5_HUMAN,D6REZ6_HUMAN,D6RCT1_HUMAN,D6RBS9_HUMAN,D6RBP6_HUMAN,D6RA49_HUMAN,D6R9M7_HUMAN,B7Z8Z7_HUMAN		4	803	-			UPI000020BBEC	31					SNV	RBM47,splice_region_variant,,ENST00000514014,;RBM47,synonymous_variant,p.=,ENST00000319592,;RBM47,synonymous_variant,p.=,ENST00000381793,;RBM47,synonymous_variant,p.=,ENST00000381795,NM_019027.3;RBM47,synonymous_variant,p.=,ENST00000295971,NM_001098634.1;RBM47,synonymous_variant,p.=,ENST00000515053,;RBM47,synonymous_variant,p.=,ENST00000513473,;RBM47,synonymous_variant,p.=,ENST00000505414,;RBM47,synonymous_variant,p.=,ENST00000511598,;RBM47,synonymous_variant,p.=,ENST00000514782,;RBM47,synonymous_variant,p.=,ENST00000505220,;RBM47,synonymous_variant,p.=,ENST00000511902,;RBM47,synonymous_variant,p.=,ENST00000507180,;RBM47,intron_variant,,ENST00000515809,;RBM47,synonymous_variant,p.=,ENST00000510871,;	uc003gvc.2	c.93C>T	801/4056	2	2			c.93C>T						4	SNP	c.(91-93)AAC>AAT	37	37			breast(3)	3	Broad	RNA binding motif protein 47 isoform a			40440818		0.697	ENSG00000163694	12930	g.chr4:40440818G>A		nucleus	nucleotide binding|RNA binding							7.133298	KEEP	1	2	-1	7	4	1	2	-1	7.805786	7	4	0.25	1	0	0	0	0	0	0	1	0	--	--		0	A			RBM47_uc003gvd.2_Silent_p.N31N|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Intron|RBM47_uc003gvg.1_Silent_p.N31N	11	GBM-06-0124-TP	p.N31N	G	GTGCTGCCTCGTTGGGCGCGC	NM_001098634	NP_001092104	40440818	A0AV96	RBM47_HUMAN	0			4	803	-	A	A			Silent	31						
RBM47	54502	broad.mit.edu	GRCh37	4	40440631	40440631	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0171-01	TCGA-06-0171-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381793.2:c.280G>A	p.Val94Met	p.V94M	ENST00000381793		94	Gtg/Atg	0			1			T	V/M	uc003gvc.2	protein_coding		CCDS43223.1			280/1782									breast(3)	3	c.(280-282)GTG>ATG			PROSITE_profiles:PS50102,hmmpanther:PTHR24012:SF300,hmmpanther:PTHR24012,Gene3D:3.30.70.330,Pfam_domain:PF00076,TIGRFAM_domain:TIGR01648,SMART_domains:SM00360,Superfamily_domains:SSF54928	RNA binding motif protein 47 isoform a				ENSP00000295971		7-Apr	8.24E-06							6.07E-05	rs776189003,COSM1637719,COSM1637720,COSM1637718	7-Apr	.		ENST00000295971	Transcript				nucleus	nucleotide binding|RNA binding	ENSG00000163694	g.chr4:40440631C>T	30358			MODERATE		2.605	medium	getma.org/?cm=msa&ty=f&p=RBM47_HUMAN&rb=73&re=141&var=V94M	getma.org/pdb.php?prot=RBM47_HUMAN&from=73&to=141&var=V94M	getma.org/?cm=var&var=hg19,4,40440631,C,T&fts=all	V94M	--	--	1																																		RBM47_uc003gvd.2_Missense_Mutation_p.V94M|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.V56M|RBM47_uc003gvg.1_Missense_Mutation_p.V94M	0,1,1,1			probably_damaging(0.92)	p.V94M	NM_001098634	NP_001092104		deleterious(0.03)	0,1,1,1	RBM47_HUMAN	RBM47	HGNC	A0AV96	RBM47_HUMAN			D6RFL5_HUMAN,D6REZ6_HUMAN,D6RCT1_HUMAN,D6RBS9_HUMAN,D6RBP6_HUMAN,D6RA49_HUMAN,D6R9M7_HUMAN,B7Z8Z7_HUMAN		4	990	-			UPI000020BBEC	94			RRM 1.		SNV	RBM47,missense_variant,p.Val94Met,ENST00000319592,;RBM47,missense_variant,p.Val94Met,ENST00000381793,;RBM47,missense_variant,p.Val94Met,ENST00000381795,NM_019027.3;RBM47,missense_variant,p.Val94Met,ENST00000295971,NM_001098634.1;RBM47,missense_variant,p.Val56Met,ENST00000514014,;RBM47,missense_variant,p.Val94Met,ENST00000515053,;RBM47,missense_variant,p.Val94Met,ENST00000513473,;RBM47,missense_variant,p.Val94Met,ENST00000505414,;RBM47,missense_variant,p.Val94Met,ENST00000511598,;RBM47,missense_variant,p.Val94Met,ENST00000514782,;RBM47,missense_variant,p.Val94Met,ENST00000507180,;RBM47,downstream_gene_variant,,ENST00000505220,;RBM47,downstream_gene_variant,,ENST00000511902,;RBM47,intron_variant,,ENST00000515809,;RBM47,missense_variant,p.Val94Met,ENST00000510871,;	uc003gvc.2	c.280G>A	988/4056	1	1			c.280G>A						4	SNP	c.(280-282)GTG>ATG	6	6			breast(3)	3	Broad	RNA binding motif protein 47 isoform a			40440631		0.672	ENSG00000163694	12930	g.chr4:40440631C>T		nucleus	nucleotide binding|RNA binding							110.495825	KEEP	23	21	-1	47	38	23	21	-1	112.545759	47	38	0.354545	1	0	0	0	0	1	0	0	0	--	--		0	T			RBM47_uc003gvd.2_Missense_Mutation_p.V94M|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.V56M|RBM47_uc003gvg.1_Missense_Mutation_p.V94M	35	GBM-06-0171-TP	p.V94M	C	ATGCGGCCCACGGCCTCGAAC	NM_001098634	NP_001092104	40440631	A0AV96	RBM47_HUMAN	0			4	990	-	T	T			Missense_Mutation	94			RRM 1.			
RBM47	54502	broad.mit.edu	GRCh37	4	40440789	40440789	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01	TCGA-06-0195-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381793.2:c.122G>A	p.Arg41His	p.R41H	ENST00000381793		41	cGc/cAc	0	T:0.0005		1			T	R/H	uc003gvc.2	protein_coding		CCDS43223.1			122/1782									breast(3)	3	c.(121-123)CGC>CAC			hmmpanther:PTHR24012:SF300,hmmpanther:PTHR24012,TIGRFAM_domain:TIGR01648	RNA binding motif protein 47 isoform a			T:0	ENSP00000295971		7-Apr	8.51E-06	0.00028							rs371872185,COSM3409301,COSM3409300,COSM3409299	7-Apr	.		ENST00000295971	Transcript				nucleus	nucleotide binding|RNA binding	ENSG00000163694	g.chr4:40440789C>T	30358			MODERATE		2.83	medium	getma.org/?cm=msa&ty=f&p=RBM47_HUMAN&rb=1&re=72&var=R41H	NA	getma.org/?cm=var&var=hg19,4,40440789,C,T&fts=all	R41H	--	--	1																																		RBM47_uc003gvd.2_Missense_Mutation_p.R41H|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.R3H|RBM47_uc003gvg.1_Missense_Mutation_p.R41H	0,1,1,1			possibly_damaging(0.899)	p.R41H	NM_001098634	NP_001092104		deleterious(0)	0,1,1,1	RBM47_HUMAN	RBM47	HGNC	A0AV96	RBM47_HUMAN			D6RFL5_HUMAN,D6REZ6_HUMAN,D6RCT1_HUMAN,D6RBS9_HUMAN,D6RBP6_HUMAN,D6RA49_HUMAN,D6R9M7_HUMAN,B7Z8Z7_HUMAN		4	832	-			UPI000020BBEC	41					SNV	RBM47,missense_variant,p.Arg41His,ENST00000319592,;RBM47,missense_variant,p.Arg41His,ENST00000381793,;RBM47,missense_variant,p.Arg41His,ENST00000381795,NM_019027.3;RBM47,missense_variant,p.Arg41His,ENST00000295971,NM_001098634.1;RBM47,missense_variant,p.Arg3His,ENST00000514014,;RBM47,missense_variant,p.Arg41His,ENST00000515053,;RBM47,missense_variant,p.Arg41His,ENST00000513473,;RBM47,missense_variant,p.Arg41His,ENST00000505414,;RBM47,missense_variant,p.Arg41His,ENST00000511598,;RBM47,missense_variant,p.Arg41His,ENST00000514782,;RBM47,missense_variant,p.Arg41His,ENST00000505220,;RBM47,missense_variant,p.Arg41His,ENST00000511902,;RBM47,missense_variant,p.Arg41His,ENST00000507180,;RBM47,intron_variant,,ENST00000515809,;RBM47,missense_variant,p.Arg41His,ENST00000510871,;	uc003gvc.2	c.122G>A	830/4056	2	2			c.122G>A						4	SNP	c.(121-123)CGC>CAC	29	29			breast(3)	3	Broad	RNA binding motif protein 47 isoform a			40440789		0.731	ENSG00000163694	12930	g.chr4:40440789C>T		nucleus	nucleotide binding|RNA binding							19.085385	KEEP	1	6	-1	4	3	1	6	-1	19.111747	4	3	0.545455	1	0	0	0	0	1	0	0	0	--	--		0	T			RBM47_uc003gvd.2_Missense_Mutation_p.R41H|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.R3H|RBM47_uc003gvg.1_Missense_Mutation_p.R41H	45	GBM-06-0195-TP	p.R41H	C	GTAGCCCGTGCGCTCCATCAG	NM_001098634	NP_001092104	40440789	A0AV96	RBM47_HUMAN	0			4	832	-	T	T			Missense_Mutation	41						
RBM47	54502	broad.mit.edu	GRCh37	4	40440364	40440364	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0650-01	TCGA-06-0650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381793.2:c.547G>A	p.Val183Ile	p.V183I	ENST00000381793		183	Gtc/Atc	0			1			T	V/I	uc003gvc.2	protein_coding		CCDS43223.1			547/1782									breast(3)	3	c.(547-549)GTC>ATC			PROSITE_profiles:PS50102,hmmpanther:PTHR24012:SF300,hmmpanther:PTHR24012,Gene3D:3.30.70.330,Pfam_domain:PF00076,TIGRFAM_domain:TIGR01648,SMART_domains:SM00360,Superfamily_domains:SSF54928	RNA binding motif protein 47 isoform a				ENSP00000295971		7-Apr									COSM1263924,COSM1263925,COSM1263923	7-Apr	.		ENST00000295971	Transcript				nucleus	nucleotide binding|RNA binding	ENSG00000163694	g.chr4:40440364C>T	30358			MODERATE		1.83	low	getma.org/?cm=msa&ty=f&p=RBM47_HUMAN&rb=153&re=220&var=V183I	getma.org/pdb.php?prot=RBM47_HUMAN&from=153&to=220&var=V183I	getma.org/?cm=var&var=hg19,4,40440364,C,T&fts=all	V183I	--	--	1																																		RBM47_uc003gvd.2_Missense_Mutation_p.V183I|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.V145I|RBM47_uc003gvg.1_Missense_Mutation_p.V183I	1,1,1			benign(0.372)	p.V183I	NM_001098634	NP_001092104		tolerated(0.12)	1,1,1	RBM47_HUMAN	RBM47	HGNC	A0AV96	RBM47_HUMAN			D6RFL5_HUMAN,D6REZ6_HUMAN,D6RCT1_HUMAN,D6RBS9_HUMAN,D6RBP6_HUMAN,D6RA49_HUMAN,D6R9M7_HUMAN,B7Z8Z7_HUMAN		4	1257	-			UPI000020BBEC	183			RRM 2.		SNV	RBM47,missense_variant,p.Val183Ile,ENST00000319592,;RBM47,missense_variant,p.Val183Ile,ENST00000381793,;RBM47,missense_variant,p.Val183Ile,ENST00000381795,NM_019027.3;RBM47,missense_variant,p.Val183Ile,ENST00000295971,NM_001098634.1;RBM47,missense_variant,p.Val145Ile,ENST00000514014,;RBM47,missense_variant,p.Val183Ile,ENST00000515053,;RBM47,missense_variant,p.Val183Ile,ENST00000513473,;RBM47,downstream_gene_variant,,ENST00000505414,;RBM47,downstream_gene_variant,,ENST00000511598,;RBM47,downstream_gene_variant,,ENST00000514782,;RBM47,downstream_gene_variant,,ENST00000505220,;RBM47,downstream_gene_variant,,ENST00000511902,;RBM47,downstream_gene_variant,,ENST00000507180,;RBM47,intron_variant,,ENST00000515809,;RBM47,missense_variant,p.Val183Ile,ENST00000510871,;	uc003gvc.2	c.547G>A	1255/4056	1	1			c.547G>A						4	SNP	c.(547-549)GTC>ATC	11	11			breast(3)	3	Broad	RNA binding motif protein 47 isoform a			40440364		0.637	ENSG00000163694	12930	g.chr4:40440364C>T		nucleus	nucleotide binding|RNA binding							-13.594503	KEEP	2	7	-1	73	91	2	7	-1	16.03702	73	91	0.055944	1	0	0	0	0	1	0	0	0	--	--		0	T			RBM47_uc003gvd.2_Missense_Mutation_p.V183I|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.V145I|RBM47_uc003gvg.1_Missense_Mutation_p.V183I	63	GBM-06-0650-TP	p.V183I	C	CTGGCGTAGACGATCACGTCC	NM_001098634	NP_001092104	40440364	A0AV96	RBM47_HUMAN	0			4	1257	-	T	T			Missense_Mutation	183			RRM 2.			
RBM47	54502	broad.mit.edu	GRCh37	4	40440359	40440359	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0749-01	TCGA-06-0749-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381793.2:c.552C>T	p.Tyr184=	p.Y184=	ENST00000381793		184	taC/taT	0			1			A	Y	uc003gvc.2	protein_coding		CCDS43223.1			552/1782									breast(3)	3	c.(550-552)TAC>TAT			PROSITE_profiles:PS50102,hmmpanther:PTHR24012:SF300,hmmpanther:PTHR24012,Gene3D:3.30.70.330,Pfam_domain:PF00076,TIGRFAM_domain:TIGR01648,SMART_domains:SM00360,Superfamily_domains:SSF54928	RNA binding motif protein 47 isoform a				ENSP00000295971		7-Apr	8.24E-06	0.000101							rs779152879,COSM2151927,COSM2151928,COSM2151926	7-Apr	.		ENST00000295971	Transcript				nucleus	nucleotide binding|RNA binding	ENSG00000163694	g.chr4:40440359G>A	30358			LOW								--	--	1																																		RBM47_uc003gvd.2_Silent_p.Y184Y|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Silent_p.Y146Y|RBM47_uc003gvg.1_Silent_p.Y184Y	0,1,1,1				p.Y184Y	NM_001098634	NP_001092104			0,1,1,1	RBM47_HUMAN	RBM47	HGNC	A0AV96	RBM47_HUMAN			D6RFL5_HUMAN,D6REZ6_HUMAN,D6RCT1_HUMAN,D6RBS9_HUMAN,D6RBP6_HUMAN,D6RA49_HUMAN,D6R9M7_HUMAN,B7Z8Z7_HUMAN		4	1262	-			UPI000020BBEC	184			RRM 2.		SNV	RBM47,synonymous_variant,p.=,ENST00000319592,;RBM47,synonymous_variant,p.=,ENST00000381793,;RBM47,synonymous_variant,p.=,ENST00000381795,NM_019027.3;RBM47,synonymous_variant,p.=,ENST00000295971,NM_001098634.1;RBM47,synonymous_variant,p.=,ENST00000514014,;RBM47,synonymous_variant,p.=,ENST00000515053,;RBM47,synonymous_variant,p.=,ENST00000513473,;RBM47,downstream_gene_variant,,ENST00000505414,;RBM47,downstream_gene_variant,,ENST00000511598,;RBM47,downstream_gene_variant,,ENST00000514782,;RBM47,downstream_gene_variant,,ENST00000505220,;RBM47,downstream_gene_variant,,ENST00000511902,;RBM47,downstream_gene_variant,,ENST00000507180,;RBM47,intron_variant,,ENST00000515809,;RBM47,synonymous_variant,p.=,ENST00000510871,;	uc003gvc.2	c.552C>T	1260/4056	2	2			c.552C>T						4	SNP	c.(550-552)TAC>TAT	42	42			breast(3)	3	Broad	RNA binding motif protein 47 isoform a			40440359		0.647	ENSG00000163694	12930	g.chr4:40440359G>A		nucleus	nucleotide binding|RNA binding							135.845132	KEEP	39	21	-1	91	59	39	21	-1	142.536867	91	59	0.296703	1	0	0	0	0	0	0	1	0	--	--		0	A			RBM47_uc003gvd.2_Silent_p.Y184Y|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Silent_p.Y146Y|RBM47_uc003gvg.1_Silent_p.Y184Y	69	GBM-06-0749-TP	p.Y184Y	G	CCGCGCTGGCGTAGACGATCA	NM_001098634	NP_001092104	40440359	A0AV96	RBM47_HUMAN	0			4	1262	-	A	A			Silent	184			RRM 2.			
RBM47	0	broad.mit.edu	GRCh37	4	40440532	40440532	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6698-01	TCGA-06-6698-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295971.7:c.379G>A	p.Ala127Thr	p.A127T	ENST00000295971	NM_001098634.1	127	Gca/Aca	0			1			T	A/T	uc003gvc.2	protein_coding		CCDS43223.1			379/1782									breast(3)	3	c.(379-381)GCA>ACA			PROSITE_profiles:PS50102,hmmpanther:PTHR24012:SF300,hmmpanther:PTHR24012,Gene3D:3.30.70.330,Pfam_domain:PF00076,TIGRFAM_domain:TIGR01648,SMART_domains:SM00360,Superfamily_domains:SSF54928	RNA binding motif protein 47 isoform a				ENSP00000295971		7-Apr									COSM3409298,COSM3409297,COSM3409296	7-Apr	.		ENST00000295971	Transcript				nucleus	nucleotide binding|RNA binding	ENSG00000163694	g.chr4:40440532C>T	30358			MODERATE		3.765	high	getma.org/?cm=msa&ty=f&p=RBM47_HUMAN&rb=73&re=141&var=A127T	getma.org/pdb.php?prot=RBM47_HUMAN&from=73&to=141&var=A127T	getma.org/?cm=var&var=hg19,4,40440532,C,T&fts=all	A127T	--	--	1																																		RBM47_uc003gvd.2_Missense_Mutation_p.A127T|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.A89T|RBM47_uc003gvg.1_Missense_Mutation_p.A127T	1,1,1			benign(0.417)	p.A127T	NM_001098634	NP_001092104		deleterious(0.01)	1,1,1	RBM47_HUMAN	RBM47	HGNC	A0AV96	RBM47_HUMAN			D6RFL5_HUMAN,D6REZ6_HUMAN,D6RCT1_HUMAN,D6RBS9_HUMAN,D6RBP6_HUMAN,D6RA49_HUMAN,D6R9M7_HUMAN,B7Z8Z7_HUMAN		4	1089	-			UPI000020BBEC	127			RRM 1.		SNV	RBM47,missense_variant,p.Ala127Thr,ENST00000319592,;RBM47,missense_variant,p.Ala127Thr,ENST00000381793,;RBM47,missense_variant,p.Ala127Thr,ENST00000381795,NM_019027.3;RBM47,missense_variant,p.Ala127Thr,ENST00000295971,NM_001098634.1;RBM47,missense_variant,p.Ala89Thr,ENST00000514014,;RBM47,missense_variant,p.Ala127Thr,ENST00000515053,;RBM47,missense_variant,p.Ala127Thr,ENST00000513473,;RBM47,missense_variant,p.Ala127Thr,ENST00000505414,;RBM47,missense_variant,p.Ala127Thr,ENST00000514782,;RBM47,downstream_gene_variant,,ENST00000511598,;RBM47,downstream_gene_variant,,ENST00000505220,;RBM47,downstream_gene_variant,,ENST00000511902,;RBM47,downstream_gene_variant,,ENST00000507180,;RBM47,intron_variant,,ENST00000515809,;RBM47,missense_variant,p.Ala127Thr,ENST00000510871,;	uc003gvc.2	c.379G>A	1087/4056	1	1			c.379G>A						4	SNP	c.(379-381)GCA>ACA	6	6			breast(3)	3	Broad	RNA binding motif protein 47 isoform a			40440532		0.642	ENSG00000163694	12930	g.chr4:40440532C>T		nucleus	nucleotide binding|RNA binding							118.338878	KEEP	23	20	-1	12	9	23	20	-1	119.530704	12	9	0.65	1	0	0	0	0	1	0	0	0	--	--		0	T			RBM47_uc003gvd.2_Missense_Mutation_p.A127T|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.A89T|RBM47_uc003gvg.1_Missense_Mutation_p.A127T	112	GBM-06-6698-TP	p.A127T	C	TCACGCACTGCGCGCTTGGCC	NM_001098634	NP_001092104	40440532	A0AV96	RBM47_HUMAN	0			4	1089	-	T	T			Missense_Mutation	127			RRM 1.			
RBM47	0	broad.mit.edu	GRCh37	4	40439840	40439840	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-2526-01	TCGA-27-2526-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295971.7:c.1071C>T	p.Tyr357=	p.Y357=	ENST00000295971	NM_001098634.1	357	taC/taT	0			1			A	Y	uc003gvc.2	protein_coding		CCDS43223.1			1071/1782									breast(3)	3	c.(1069-1071)TAC>TAT			hmmpanther:PTHR24012:SF300,hmmpanther:PTHR24012,TIGRFAM_domain:TIGR01648	RNA binding motif protein 47 isoform a				ENSP00000295971		7-Apr									COSM2847053,COSM2847054,COSM2847052	7-Apr	.		ENST00000295971	Transcript				nucleus	nucleotide binding|RNA binding	ENSG00000163694	g.chr4:40439840G>A	30358			LOW								--	--	1																																		RBM47_uc003gvd.2_Silent_p.Y357Y|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Silent_p.Y319Y|RBM47_uc003gvg.1_Silent_p.Y357Y	1,1,1				p.Y357Y	NM_001098634	NP_001092104			1,1,1	RBM47_HUMAN	RBM47	HGNC	A0AV96	RBM47_HUMAN			D6RFL5_HUMAN,D6REZ6_HUMAN,D6RCT1_HUMAN,D6RBS9_HUMAN,D6RBP6_HUMAN,D6RA49_HUMAN,D6R9M7_HUMAN,B7Z8Z7_HUMAN		4	1781	-			UPI000020BBEC	357					SNV	RBM47,synonymous_variant,p.=,ENST00000319592,;RBM47,synonymous_variant,p.=,ENST00000381793,;RBM47,synonymous_variant,p.=,ENST00000381795,NM_019027.3;RBM47,synonymous_variant,p.=,ENST00000295971,NM_001098634.1;RBM47,synonymous_variant,p.=,ENST00000514014,;RBM47,downstream_gene_variant,,ENST00000515053,;RBM47,downstream_gene_variant,,ENST00000513473,;RBM47,downstream_gene_variant,,ENST00000505414,;RBM47,downstream_gene_variant,,ENST00000511598,;RBM47,downstream_gene_variant,,ENST00000514782,;RBM47,downstream_gene_variant,,ENST00000505220,;RBM47,downstream_gene_variant,,ENST00000511902,;RBM47,downstream_gene_variant,,ENST00000507180,;RBM47,intron_variant,,ENST00000515809,;RBM47,synonymous_variant,p.=,ENST00000510871,;	uc003gvc.2	c.1071C>T	1779/4056	1	1			c.1071C>T						4	SNP	c.(1069-1071)TAC>TAT	62	62			breast(3)	3	Broad	RNA binding motif protein 47 isoform a			40439840		0.642	ENSG00000163694	12930	g.chr4:40439840G>A		nucleus	nucleotide binding|RNA binding							61.32343	KEEP	24	7	-1	22	17	24	7	-1	61.660197	22	17	0.415094	1	0	0	0	0	0	0	1	0	--	--		0	A			RBM47_uc003gvd.2_Silent_p.Y357Y|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Silent_p.Y319Y|RBM47_uc003gvg.1_Silent_p.Y357Y	203	GBM-27-2526-TP	p.Y357Y	G	AGGGGTAGCCGTAGTAGGCCA	NM_001098634	NP_001092104	40439840	A0AV96	RBM47_HUMAN	0			4	1781	-	A	A			Silent	357						
RBM47	0	broad.mit.edu	GRCh37	4	40440352	40440352	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01	TCGA-28-2513-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295971.7:c.559G>A	p.Ala187Thr	p.A187T	ENST00000295971	NM_001098634.1	187	Gcg/Acg	0			1			T	A/T	uc003gvc.2	protein_coding		CCDS43223.1			559/1782									breast(3)	3	c.(559-561)GCG>ACG			PROSITE_profiles:PS50102,hmmpanther:PTHR24012:SF300,hmmpanther:PTHR24012,Gene3D:3.30.70.330,Pfam_domain:PF00076,TIGRFAM_domain:TIGR01648,SMART_domains:SM00360,Superfamily_domains:SSF54928	RNA binding motif protein 47 isoform a				ENSP00000295971		7-Apr	8.24E-06					1.54E-05			rs754268660,COSM3409295,COSM3409294,COSM3409293	7-Apr	.		ENST00000295971	Transcript				nucleus	nucleotide binding|RNA binding	ENSG00000163694	g.chr4:40440352C>T	30358			MODERATE		2.41	medium	getma.org/?cm=msa&ty=f&p=RBM47_HUMAN&rb=153&re=220&var=A187T	getma.org/pdb.php?prot=RBM47_HUMAN&from=153&to=220&var=A187T	getma.org/?cm=var&var=hg19,4,40440352,C,T&fts=all	A187T	--	--	1																																		RBM47_uc003gvd.2_Missense_Mutation_p.A187T|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.A149T|RBM47_uc003gvg.1_Missense_Mutation_p.A187T	0,1,1,1			probably_damaging(0.961)	p.A187T	NM_001098634	NP_001092104		deleterious(0.03)	0,1,1,1	RBM47_HUMAN	RBM47	HGNC	A0AV96	RBM47_HUMAN			D6RFL5_HUMAN,D6REZ6_HUMAN,D6RCT1_HUMAN,D6RBS9_HUMAN,D6RBP6_HUMAN,D6RA49_HUMAN,D6R9M7_HUMAN,B7Z8Z7_HUMAN		4	1269	-			UPI000020BBEC	187			RRM 2.		SNV	RBM47,missense_variant,p.Ala187Thr,ENST00000319592,;RBM47,missense_variant,p.Ala187Thr,ENST00000381793,;RBM47,missense_variant,p.Ala187Thr,ENST00000381795,NM_019027.3;RBM47,missense_variant,p.Ala187Thr,ENST00000295971,NM_001098634.1;RBM47,missense_variant,p.Ala149Thr,ENST00000514014,;RBM47,missense_variant,p.Ala187Thr,ENST00000515053,;RBM47,missense_variant,p.Ala187Thr,ENST00000513473,;RBM47,downstream_gene_variant,,ENST00000505414,;RBM47,downstream_gene_variant,,ENST00000511598,;RBM47,downstream_gene_variant,,ENST00000514782,;RBM47,downstream_gene_variant,,ENST00000505220,;RBM47,downstream_gene_variant,,ENST00000511902,;RBM47,downstream_gene_variant,,ENST00000507180,;RBM47,intron_variant,,ENST00000515809,;RBM47,missense_variant,p.Ala187Thr,ENST00000510871,;	uc003gvc.2	c.559G>A	1267/4056	1	1			c.559G>A						4	SNP	c.(559-561)GCG>ACG	12	12			breast(3)	3	Broad	RNA binding motif protein 47 isoform a			40440352		0.637	ENSG00000163694	12930	g.chr4:40440352C>T		nucleus	nucleotide binding|RNA binding							-6.720702	KEEP	4	6	-1	60	78	4	6	-1	14.165079	60	78	0.072072	1	0	0	0	0	1	0	0	0	--	--		0	T			RBM47_uc003gvd.2_Missense_Mutation_p.A187T|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.A149T|RBM47_uc003gvg.1_Missense_Mutation_p.A187T	213	GBM-28-2513-TP	p.A187T	C	TTGTCGGCCGCGCTGGCGTAG	NM_001098634	NP_001092104	40440352	A0AV96	RBM47_HUMAN	0			4	1269	-	T	T			Missense_Mutation	187			RRM 2.			
RBM47	0	broad.mit.edu	GRCh37	4	40440481	40440481	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01	TCGA-28-2514-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295971.7:c.430G>A	p.Val144Met	p.V144M	ENST00000295971	NM_001098634.1	144	Gtg/Atg	0			1			T	V/M	uc003gvc.2	protein_coding		CCDS43223.1			430/1782									breast(3)	3	c.(430-432)GTG>ATG			PROSITE_profiles:PS50102,hmmpanther:PTHR24012:SF300,hmmpanther:PTHR24012,Gene3D:3.30.70.330,TIGRFAM_domain:TIGR01648,SMART_domains:SM00360,Superfamily_domains:SSF54928	RNA binding motif protein 47 isoform a				ENSP00000295971		7-Apr									COSM2847116,COSM2847117,COSM2847115	7-Apr	.		ENST00000295971	Transcript				nucleus	nucleotide binding|RNA binding	ENSG00000163694	g.chr4:40440481C>T	30358			MODERATE		3.86	high	getma.org/?cm=msa&ty=f&p=RBM47_HUMAN&rb=71&re=149&var=V144M	getma.org/pdb.php?prot=RBM47_HUMAN&from=71&to=149&var=V144M	getma.org/?cm=var&var=hg19,4,40440481,C,T&fts=all	V144M	--	--	1																																		RBM47_uc003gvd.2_Missense_Mutation_p.V144M|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.V106M|RBM47_uc003gvg.1_Missense_Mutation_p.V144M	1,1,1			possibly_damaging(0.751)	p.V144M	NM_001098634	NP_001092104		deleterious(0)	1,1,1	RBM47_HUMAN	RBM47	HGNC	A0AV96	RBM47_HUMAN			D6RFL5_HUMAN,D6REZ6_HUMAN,D6RCT1_HUMAN,D6RBS9_HUMAN,D6RBP6_HUMAN,D6RA49_HUMAN,D6R9M7_HUMAN,B7Z8Z7_HUMAN		4	1140	-			UPI000020BBEC	144			RRM 1.		SNV	RBM47,missense_variant,p.Val144Met,ENST00000319592,;RBM47,missense_variant,p.Val144Met,ENST00000381793,;RBM47,missense_variant,p.Val144Met,ENST00000381795,NM_019027.3;RBM47,missense_variant,p.Val144Met,ENST00000295971,NM_001098634.1;RBM47,missense_variant,p.Val106Met,ENST00000514014,;RBM47,missense_variant,p.Val144Met,ENST00000515053,;RBM47,missense_variant,p.Val144Met,ENST00000513473,;RBM47,missense_variant,p.Val144Met,ENST00000505414,;RBM47,downstream_gene_variant,,ENST00000511598,;RBM47,downstream_gene_variant,,ENST00000514782,;RBM47,downstream_gene_variant,,ENST00000505220,;RBM47,downstream_gene_variant,,ENST00000511902,;RBM47,downstream_gene_variant,,ENST00000507180,;RBM47,intron_variant,,ENST00000515809,;RBM47,missense_variant,p.Val144Met,ENST00000510871,;	uc003gvc.2	c.430G>A	1138/4056	2	2			c.430G>A						4	SNP	c.(430-432)GTG>ATG	43	43			breast(3)	3	Broad	RNA binding motif protein 47 isoform a			40440481		0.637	ENSG00000163694	12930	g.chr4:40440481C>T		nucleus	nucleotide binding|RNA binding							34.690923	KEEP	9	10	-1	27	35	9	10	-1	38.106457	27	35	0.25	1	0	0	0	0	1	0	0	0	--	--		0	T			RBM47_uc003gvd.2_Missense_Mutation_p.V144M|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.V106M|RBM47_uc003gvg.1_Missense_Mutation_p.V144M	214	GBM-28-2514-TP	p.V144M	C	CTGCAGCACACGCCGAGCAGG	NM_001098634	NP_001092104	40440481	A0AV96	RBM47_HUMAN	0			4	1140	-	T	T			Missense_Mutation	144			RRM 1.			
RBM47	0	broad.mit.edu	GRCh37	4	40440439	40440439	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-1991-01	TCGA-32-1991-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295971.7:c.472A>G	p.Ile158Val	p.I158V	ENST00000295971	NM_001098634.1	158	Atc/Gtc	0			1			C	I/V	uc003gvc.2	protein_coding		CCDS43223.1			472/1782									breast(3)	3	c.(472-474)ATC>GTC			PROSITE_profiles:PS50102,hmmpanther:PTHR24012:SF300,hmmpanther:PTHR24012,Gene3D:3.30.70.330,Pfam_domain:PF00076,TIGRFAM_domain:TIGR01648,SMART_domains:SM00360,Superfamily_domains:SSF54928	RNA binding motif protein 47 isoform a				ENSP00000295971		7-Apr	9.06E-05				0.000482	4.69E-05	0.00115		rs772734253,COSM3748269,COSM3748268,COSM3748267	7-Apr	common_variant		ENST00000295971	Transcript				nucleus	nucleotide binding|RNA binding	ENSG00000163694	g.chr4:40440439T>C	30358			MODERATE		1.255	low	getma.org/?cm=msa&ty=f&p=RBM47_HUMAN&rb=153&re=220&var=I158V	getma.org/pdb.php?prot=RBM47_HUMAN&from=153&to=220&var=I158V	getma.org/?cm=var&var=hg19,4,40440439,T,C&fts=all	I158V	--	--	1																																		RBM47_uc003gvd.2_Missense_Mutation_p.I158V|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.I120V|RBM47_uc003gvg.1_Missense_Mutation_p.I158V	0,1,1,1			possibly_damaging(0.685)	p.I158V	NM_001098634	NP_001092104		tolerated(0.05)	0,1,1,1	RBM47_HUMAN	RBM47	HGNC	A0AV96	RBM47_HUMAN			D6RFL5_HUMAN,D6REZ6_HUMAN,D6RCT1_HUMAN,D6RBS9_HUMAN,D6RBP6_HUMAN,D6RA49_HUMAN,D6R9M7_HUMAN,B7Z8Z7_HUMAN		4	1182	-			UPI000020BBEC	158			RRM 2.		SNV	RBM47,missense_variant,p.Ile158Val,ENST00000319592,;RBM47,missense_variant,p.Ile158Val,ENST00000381793,;RBM47,missense_variant,p.Ile158Val,ENST00000381795,NM_019027.3;RBM47,missense_variant,p.Ile158Val,ENST00000295971,NM_001098634.1;RBM47,missense_variant,p.Ile120Val,ENST00000514014,;RBM47,missense_variant,p.Ile158Val,ENST00000515053,;RBM47,missense_variant,p.Ile158Val,ENST00000513473,;RBM47,missense_variant,p.Ile158Val,ENST00000505414,;RBM47,downstream_gene_variant,,ENST00000511598,;RBM47,downstream_gene_variant,,ENST00000514782,;RBM47,downstream_gene_variant,,ENST00000505220,;RBM47,downstream_gene_variant,,ENST00000511902,;RBM47,downstream_gene_variant,,ENST00000507180,;RBM47,intron_variant,,ENST00000515809,;RBM47,missense_variant,p.Ile158Val,ENST00000510871,;	uc003gvc.2	c.472A>G	1180/4056	3	3			c.472A>G						4	SNP	c.(472-474)ATC>GTC	57	57			breast(3)	3	Broad	RNA binding motif protein 47 isoform a			40440439		0.637	ENSG00000163694	12930	g.chr4:40440439T>C		nucleus	nucleotide binding|RNA binding							-4.751727	KEEP	28	27	-1	37	46	28	27	-1	6.705747	37	46	0.090909	1	0	0	0	0	1	0	0	0	--	--		0	C			RBM47_uc003gvd.2_Missense_Mutation_p.I158V|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.I120V|RBM47_uc003gvg.1_Missense_Mutation_p.I158V	234	GBM-32-1991-TP	p.I158V	T	ATCTTGGGGATCCCGCCGATG	NM_001098634	NP_001092104	40440439	A0AV96	RBM47_HUMAN	0			4	1182	-	C	C			Missense_Mutation	158			RRM 2.			
RBM47	0	broad.mit.edu	GRCh37	4	40440160	40440160	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01	TCGA-32-4210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295971.7:c.751C>T	p.Arg251Cys	p.R251C	ENST00000295971	NM_001098634.1	251	Cgc/Tgc	0			1			A	R/C	uc003gvc.2	protein_coding		CCDS43223.1			751/1782									breast(3)	3	c.(751-753)CGC>TGC			PROSITE_profiles:PS50102,hmmpanther:PTHR24012:SF300,hmmpanther:PTHR24012,Pfam_domain:PF00076,TIGRFAM_domain:TIGR01648,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928	RNA binding motif protein 47 isoform a				ENSP00000295971		7-Apr									COSM1429688,COSM1429689,COSM1429687	7-Apr	.		ENST00000295971	Transcript				nucleus	nucleotide binding|RNA binding	ENSG00000163694	g.chr4:40440160G>A	30358			MODERATE		2.405	medium	getma.org/?cm=msa&ty=f&p=RBM47_HUMAN&rb=248&re=312&var=R251C	getma.org/pdb.php?prot=RBM47_HUMAN&from=248&to=312&var=R251C	getma.org/?cm=var&var=hg19,4,40440160,G,A&fts=all	R251C	--	--	1																																		RBM47_uc003gvd.2_Missense_Mutation_p.R251C|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.R213C|RBM47_uc003gvg.1_Missense_Mutation_p.R251C	1,1,1			probably_damaging(0.982)	p.R251C	NM_001098634	NP_001092104		deleterious(0)	1,1,1	RBM47_HUMAN	RBM47	HGNC	A0AV96	RBM47_HUMAN			D6RFL5_HUMAN,D6REZ6_HUMAN,D6RCT1_HUMAN,D6RBS9_HUMAN,D6RBP6_HUMAN,D6RA49_HUMAN,D6R9M7_HUMAN,B7Z8Z7_HUMAN		4	1461	-			UPI000020BBEC	251			RRM 3.		SNV	RBM47,missense_variant,p.Arg251Cys,ENST00000319592,;RBM47,missense_variant,p.Arg251Cys,ENST00000381793,;RBM47,missense_variant,p.Arg251Cys,ENST00000381795,NM_019027.3;RBM47,missense_variant,p.Arg251Cys,ENST00000295971,NM_001098634.1;RBM47,missense_variant,p.Arg213Cys,ENST00000514014,;RBM47,downstream_gene_variant,,ENST00000515053,;RBM47,downstream_gene_variant,,ENST00000513473,;RBM47,downstream_gene_variant,,ENST00000505414,;RBM47,downstream_gene_variant,,ENST00000511598,;RBM47,downstream_gene_variant,,ENST00000514782,;RBM47,downstream_gene_variant,,ENST00000505220,;RBM47,downstream_gene_variant,,ENST00000511902,;RBM47,downstream_gene_variant,,ENST00000507180,;RBM47,intron_variant,,ENST00000515809,;RBM47,missense_variant,p.Arg251Cys,ENST00000510871,;	uc003gvc.2	c.751C>T	1459/4056	2	2			c.751C>T						4	SNP	c.(751-753)CGC>TGC	20	20			breast(3)	3	Broad	RNA binding motif protein 47 isoform a			40440160		0.617	ENSG00000163694	12930	g.chr4:40440160G>A		nucleus	nucleotide binding|RNA binding							126.955744	KEEP	36	25	-1	87	93	36	25	-1	136.67187	87	93	0.268657	1	0	0	0	0	1	0	0	0	--	--		0	A			RBM47_uc003gvd.2_Missense_Mutation_p.R251C|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.R213C|RBM47_uc003gvg.1_Missense_Mutation_p.R251C	245	GBM-32-4210-TP	p.R251C	G	ATGAGGTTGCGCACGTAGAGG	NM_001098634	NP_001092104	40440160	A0AV96	RBM47_HUMAN	0			4	1461	-	A	A			Missense_Mutation	251			RRM 3.			
RBM47	54502		GRCh37	4	40440502	40440502	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000381793.2:c.409C>T	p.Arg137Cys	p.R137C	ENST00000381793		137	Cgc/Tgc	0																																																																																																																																																																																																																																												
RBM48	0	broad.mit.edu	GRCh37	7	92163996	92163997	+	frameshift_variant	Frame_Shift_Del	DEL	TT	TT	-			TCGA-19-2631-01	TCGA-19-2631-01	TT	TT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265732.5:c.730_731delTT	p.Leu244AlafsTer28	p.L244Afs*28	ENST00000265732	NM_032120.2	243	tcTTtg/tctg	0	-:0.0005		1			-	SL/SX	uc003ulz.2	protein_coding	YES	CCDS43615.1			729-730/1104									ovary(2)	2	c.(727-732)TCTTTGfs			hmmpanther:PTHR20957	hypothetical protein LOC84060			-:0.0004	ENSP00000265732		5-Apr									rs770281416,COSM2156405	5-Apr	.		ENST00000265732	Transcript					nucleotide binding	ENSG00000127993	g.chr7:92163996_92163997delTT	21785	1		HIGH								--	--	1																																		C7orf64_uc003uma.2_Frame_Shift_Del_p.S243fs	0,1	1			p.S243fs	NM_032120	NP_115496			0,1	RBM48_HUMAN	RBM48	HGNC	Q5RL73	CG064_HUMAN					4	770_771	+			UPI000020F54D	243_244					deletion	RBM48,frameshift_variant,p.Leu244AlafsTer28,ENST00000481551,;RBM48,frameshift_variant,p.Leu244AlafsTer28,ENST00000265732,NM_032120.2;RBM48,downstream_gene_variant,,ENST00000496410,;	uc003ulz.2	c.729_730delTT	770-771/1742	5	5			c.729_730delTT						7	DEL	c.(727-732)TCTTTGfs	52	52			ovary(2)	2	Broad	hypothetical protein LOC84060			92163997		0.45	ENSG00000127993	2361	g.chr7:92163996_92163997delTT			nucleotide binding																				0.31	1	1	0	1	0	0	0	0	0	--	--		0	-			C7orf64_uc003uma.2_Frame_Shift_Del_p.S243fs	167	GBM-19-2631-TP	p.S243fs	TT	ACAATGACTCTTTGCGGAAAAC	NM_032120	NP_115496	92163996	Q5RL73	CG064_HUMAN	0			4	770_771	+	-	-			Frame_Shift_Del	243_244						
RBM48	0	broad.mit.edu	GRCh37	7	92158936	92158936	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-32-4210-01	TCGA-32-4210-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265732.5:c.258T>C	p.Phe86=	p.F86=	ENST00000265732	NM_032120.2	86	ttT/ttC	0			1			C	F	uc003ulz.2	protein_coding	YES	CCDS43615.1			258/1104									ovary(2)	2	c.(256-258)TTT>TTC			Gene3D:3.30.70.330,Pfam_domain:PF13893,hmmpanther:PTHR20957,Superfamily_domains:SSF54928	hypothetical protein LOC84060				ENSP00000265732		5-Feb	8.28E-06					1.51E-05			rs765714780,COSM3412474	5-Feb	.		ENST00000265732	Transcript					nucleotide binding	ENSG00000127993	g.chr7:92158936T>C	21785			LOW								--	--	1																																		PEX1_uc003uly.2_5'Flank|PEX1_uc011khr.1_5'Flank|PEX1_uc010ley.2_5'Flank|PEX1_uc011khs.1_5'Flank|C7orf64_uc011khu.1_Silent_p.F86F|C7orf64_uc003uma.2_Silent_p.F86F	0,1	1			p.F86F	NM_032120	NP_115496			0,1	RBM48_HUMAN	RBM48	HGNC	Q5RL73	CG064_HUMAN					2	299	+			UPI000020F54D	86					SNV	RBM48,synonymous_variant,p.=,ENST00000481551,;RBM48,synonymous_variant,p.=,ENST00000265732,NM_032120.2;RBM48,synonymous_variant,p.=,ENST00000496410,;PEX1,upstream_gene_variant,,ENST00000248633,NM_000466.2;PEX1,upstream_gene_variant,,ENST00000428214,NM_001282677.1;PEX1,upstream_gene_variant,,ENST00000438045,;PEX1,upstream_gene_variant,,ENST00000484913,;	uc003ulz.2	c.258T>C	299/1742	4	4			c.258T>C						7	SNP	c.(256-258)TTT>TTC	46	46			ovary(2)	2	Broad	hypothetical protein LOC84060			92158936		0.353	ENSG00000127993	2361	g.chr7:92158936T>C			nucleotide binding							-59.41157	KEEP	2	2	-1	142	131	2	2	-1	8.082058	142	131	0.015748	1	0	0	0	0	0	0	1	0	--	--		0	C			PEX1_uc003uly.2_5'Flank|PEX1_uc011khr.1_5'Flank|PEX1_uc010ley.2_5'Flank|PEX1_uc011khs.1_5'Flank|C7orf64_uc011khu.1_Silent_p.F86F|C7orf64_uc003uma.2_Silent_p.F86F	245	GBM-32-4210-TP	p.F86F	T	CAGAAGACTTTACTGAAGTTT	NM_032120	NP_115496	92158936	Q5RL73	CG064_HUMAN	0			2	299	+	C	C			Silent	86						
RBM6	10180		GRCh37	3	50099537	50099537	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000266022.4:c.2582C>T	p.Thr861Met	p.T861M	ENST00000266022	NM_005777.2	861	aCg/aTg	0																																																																																																																																																																																																																																												
RBMS3	27303	broad.mit.edu	GRCh37	3	29938905	29938905	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000383767.2:c.827G>A	p.Arg276His	p.R276H	ENST00000383767		276	cGc/cAc	0			1			A	R/H	uc003cel.2	protein_coding	YES	CCDS33724.1			827/1314									central_nervous_system(1)	1	c.(826-828)CGC>CAC			hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF219	RNA binding motif, single stranded interacting				ENSP00000373277		15-Sep	8.24E-06					1.50E-05			rs745458478,COSM1043497,COSM3408573	15-Sep	.		ENST00000383767	Transcript				cytoplasm	nucleotide binding|RNA binding	ENSG00000144642	g.chr3:29938905G>A	13427			MODERATE		2.27	medium	getma.org/?cm=msa&ty=f&p=RBMS3_HUMAN&rb=209&re=369&var=R276H	NA	getma.org/?cm=var&var=hg19,3,29938905,G,A&fts=all	R276H	--	--	1																																		RBMS3_uc003cek.2_Missense_Mutation_p.R276H|RBMS3_uc010hfq.2_Missense_Mutation_p.R289H|RBMS3_uc003cem.2_Missense_Mutation_p.R275H|RBMS3_uc010hfr.2_Missense_Mutation_p.R276H	0,1,1	1		probably_damaging(0.997)	p.R276H	NM_001003793	NP_001003793		tolerated(0.1)	0,1,1	RBMS3_HUMAN	RBMS3	HGNC	Q6XE24	RBMS3_HUMAN			C9J9B2_HUMAN		9	1057	+		Ovarian(412;0.0956)	UPI000023FE75	276					SNV	RBMS3,missense_variant,p.Arg275His,ENST00000434693,NM_001003793.2;RBMS3,missense_variant,p.Arg289His,ENST00000396583,NM_001177711.1;RBMS3,missense_variant,p.Arg275His,ENST00000383766,NM_001003792.2;RBMS3,missense_variant,p.Arg276His,ENST00000383767,;RBMS3,missense_variant,p.Arg276His,ENST00000273139,NM_014483.3;RBMS3,missense_variant,p.Arg276His,ENST00000452462,;RBMS3,missense_variant,p.Arg289His,ENST00000456853,NM_001177712.1;RBMS3,non_coding_transcript_exon_variant,,ENST00000497319,;	uc003cel.2	c.827G>A	1163/1864	2	2			c.827G>A						3	SNP	c.(826-828)CGC>CAC	22	22			central_nervous_system(1)	1	Broad	RNA binding motif, single stranded interacting			29938905		0.433	ENSG00000144642	12939	g.chr3:29938905G>A		cytoplasm	nucleotide binding|RNA binding							261.31287	KEEP	56	51	-1	108	111	56	51	-1	268.439359	108	111	0.327138	1	0	0	0	0	1	0	0	0	--	--		0	A			RBMS3_uc003cek.2_Missense_Mutation_p.R276H|RBMS3_uc010hfq.2_Missense_Mutation_p.R289H|RBMS3_uc003cem.2_Missense_Mutation_p.R275H|RBMS3_uc010hfr.2_Missense_Mutation_p.R276H	26	GBM-06-0154-TP	p.R276H	G	GCAACCAACCGCATGATTCCA	NM_001003793	NP_001003793	29938905	Q6XE24	RBMS3_HUMAN	0			9	1057	+	A	A		Ovarian(412;0.0956)	Missense_Mutation	276						
RBMS3	27303	broad.mit.edu	GRCh37	3	30032579	30032579	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-2558-01	TCGA-06-2558-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000383767.2:c.1186G>T	p.Val396Phe	p.V396F	ENST00000383767		396	Gtt/Ttt	0			1			T	V/F	uc003cel.2	protein_coding	YES	CCDS33724.1			1186/1314									central_nervous_system(1)	1	c.(1186-1188)GTT>TTT			hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF219	RNA binding motif, single stranded interacting				ENSP00000373277		14/15									COSM2152652,COSM3408575	14/15	.		ENST00000383767	Transcript				cytoplasm	nucleotide binding|RNA binding	ENSG00000144642	g.chr3:30032579G>T	13427			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=RBMS3_HUMAN&rb=370&re=414&var=V396F	NA	getma.org/?cm=var&var=hg19,3,30032579,G,T&fts=all	V396F	--	--	1																																		RBMS3_uc003cek.2_Missense_Mutation_p.V380F|RBMS3_uc010hfq.2_Missense_Mutation_p.V393F|RBMS3_uc003cem.2_Missense_Mutation_p.V378F|RBMS3_uc010hfr.2_Missense_Mutation_p.V380F	1,1	1		possibly_damaging(0.845)	p.V396F	NM_001003793	NP_001003793		tolerated_low_confidence(0.21)	1,1	RBMS3_HUMAN	RBMS3	HGNC	Q6XE24	RBMS3_HUMAN			C9J9B2_HUMAN		14	1416	+		Ovarian(412;0.0956)	UPI000023FE75	396					SNV	RBMS3,missense_variant,p.Val395Phe,ENST00000434693,NM_001003793.2;RBMS3,missense_variant,p.Val393Phe,ENST00000396583,NM_001177711.1;RBMS3,missense_variant,p.Val378Phe,ENST00000383766,NM_001003792.2;RBMS3,missense_variant,p.Val396Phe,ENST00000383767,;RBMS3,missense_variant,p.Val380Phe,ENST00000273139,NM_014483.3;RBMS3,missense_variant,p.Val380Phe,ENST00000452462,;RBMS3,missense_variant,p.Val393Phe,ENST00000456853,NM_001177712.1;RBMS3,non_coding_transcript_exon_variant,,ENST00000473799,;RBMS3,non_coding_transcript_exon_variant,,ENST00000497274,;AC099048.1,downstream_gene_variant,,ENST00000366459,;	uc003cel.2	c.1186G>T	1522/1864	1	1			c.1186G>T						3	SNP	c.(1186-1188)GTT>TTT	8	8			central_nervous_system(1)	1	Broad	RNA binding motif, single stranded interacting			30032579		0.493	ENSG00000144642	12939	g.chr3:30032579G>T		cytoplasm	nucleotide binding|RNA binding							69.036608	KEEP	15	14	0.517241379	37	27	15	14	0.517241379	72.264046	37	27	0.294118	1	0	0	0	0	1	0	0	0	--	--		0	T			RBMS3_uc003cek.2_Missense_Mutation_p.V380F|RBMS3_uc010hfq.2_Missense_Mutation_p.V393F|RBMS3_uc003cem.2_Missense_Mutation_p.V378F|RBMS3_uc010hfr.2_Missense_Mutation_p.V380F	82	GBM-06-2558-TP	p.V396F	G	TTAGGGTGTTGTTGCTGATAC	NM_001003793	NP_001003793	30032579	Q6XE24	RBMS3_HUMAN	0			14	1416	+	T	T		Ovarian(412;0.0956)	Missense_Mutation	396						
RBMS3	0	broad.mit.edu	GRCh37	3	29985717	29985717	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-14-2554-01	TCGA-14-2554-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000383767.2:c.1070T>G	p.Ile357Ser	p.I357S	ENST00000383767		357	aTt/aGt	0			1			G	I/S	uc003cel.2	protein_coding	YES	CCDS33724.1			1070/1314									central_nervous_system(1)	1	c.(1069-1071)ATT>AGT			hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF219	RNA binding motif, single stranded interacting				ENSP00000373277		15-Dec									COSM3408574	15-Dec	.		ENST00000383767	Transcript				cytoplasm	nucleotide binding|RNA binding	ENSG00000144642	g.chr3:29985717T>G	13427			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=RBMS3_HUMAN&rb=209&re=369&var=I357S	NA	getma.org/?cm=var&var=hg19,3,29985717,T,G&fts=all	I357S	--	--	1																																		RBMS3_uc003cek.2_Intron|RBMS3_uc010hfq.2_Intron|RBMS3_uc003cem.2_Missense_Mutation_p.I339S|RBMS3_uc010hfr.2_Intron	1	1		benign(0)	p.I357S	NM_001003793	NP_001003793		tolerated_low_confidence(0.56)	1	RBMS3_HUMAN	RBMS3	HGNC	Q6XE24	RBMS3_HUMAN			C9J9B2_HUMAN		12	1300	+		Ovarian(412;0.0956)	UPI000023FE75	357					SNV	RBMS3,missense_variant,p.Ile356Ser,ENST00000434693,NM_001003793.2;RBMS3,missense_variant,p.Ile339Ser,ENST00000383766,NM_001003792.2;RBMS3,missense_variant,p.Ile357Ser,ENST00000383767,;RBMS3,intron_variant,,ENST00000396583,NM_001177711.1;RBMS3,intron_variant,,ENST00000273139,NM_014483.3;RBMS3,intron_variant,,ENST00000452462,;RBMS3,intron_variant,,ENST00000456853,NM_001177712.1;RBMS3,non_coding_transcript_exon_variant,,ENST00000473799,;	uc003cel.2	c.1070T>G	1406/1864	3	3			c.1070T>G						3	SNP	c.(1069-1071)ATT>AGT	12	12			central_nervous_system(1)	1	Broad	RNA binding motif, single stranded interacting			29985717		0.388	ENSG00000144642	12939	g.chr3:29985717T>G		cytoplasm	nucleotide binding|RNA binding							76.777372	KEEP	14	21	-1	96	64	14	21	-1	90.581579	96	64	0.189542	1	0	0	0	0	1	0	0	0	--	--		0	G			RBMS3_uc003cek.2_Intron|RBMS3_uc010hfq.2_Intron|RBMS3_uc003cem.2_Missense_Mutation_p.I339S|RBMS3_uc010hfr.2_Intron	150	GBM-14-2554-TP	p.I357S	T	CAAGACAGGATTATGATACTC	NM_001003793	NP_001003793	29985717	Q6XE24	RBMS3_HUMAN	0			12	1300	+	G	G		Ovarian(412;0.0956)	Missense_Mutation	357						
RBMS3	0	broad.mit.edu	GRCh37	3	30032601	30032601	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs143165101		TCGA-32-1970-01	TCGA-32-1970-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000383767.2:c.1208C>G	p.Thr403Arg	p.T403R	ENST00000383767		403	aCa/aGa	0	T:0.0005	T:0.0015	1	T:0		G	T/R	uc003cel.2	protein_coding	YES	CCDS33724.1			1208/1314									central_nervous_system(1)	1	c.(1207-1209)ACA>AGA				RNA binding motif, single stranded interacting		T:0	T:0	ENSP00000373277	T:0	14/15	8.24E-06					1.50E-05			rs143165101,COSM3408576,COSM3408577	14/15	.		ENST00000383767	Transcript		T:0.0004		cytoplasm	nucleotide binding|RNA binding	ENSG00000144642	g.chr3:30032601C>G	13427			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=RBMS3_HUMAN&rb=370&re=414&var=T403R	NA	getma.org/?cm=var&var=hg19,3,30032601,C,G&fts=all	T403R	--	--	1																																		RBMS3_uc003cek.2_Missense_Mutation_p.T387R|RBMS3_uc010hfq.2_Missense_Mutation_p.T400R|RBMS3_uc003cem.2_Missense_Mutation_p.T385R|RBMS3_uc010hfr.2_Missense_Mutation_p.T387R	0,1,1	1		benign(0.347)	p.T403R	NM_001003793	NP_001003793	T:0	deleterious(0.03)	0,1,1	RBMS3_HUMAN	RBMS3	HGNC	Q6XE24	RBMS3_HUMAN			C9J9B2_HUMAN		14	1438	+		Ovarian(412;0.0956)	UPI000023FE75	403					SNV	RBMS3,missense_variant,p.Thr402Arg,ENST00000434693,NM_001003793.2;RBMS3,missense_variant,p.Thr400Arg,ENST00000396583,NM_001177711.1;RBMS3,missense_variant,p.Thr385Arg,ENST00000383766,NM_001003792.2;RBMS3,missense_variant,p.Thr403Arg,ENST00000383767,;RBMS3,missense_variant,p.Thr387Arg,ENST00000273139,NM_014483.3;RBMS3,missense_variant,p.Thr387Arg,ENST00000452462,;RBMS3,missense_variant,p.Thr400Arg,ENST00000456853,NM_001177712.1;RBMS3,non_coding_transcript_exon_variant,,ENST00000473799,;RBMS3,non_coding_transcript_exon_variant,,ENST00000497274,;AC099048.1,downstream_gene_variant,,ENST00000366459,;	uc003cel.2	c.1208C>G	1544/1864	3	3			c.1208C>G						3	SNP	c.(1207-1209)ACA>AGA	62	62			central_nervous_system(1)	1	Broad	RNA binding motif, single stranded interacting			30032601		0.483	ENSG00000144642	12939	g.chr3:30032601C>G		cytoplasm	nucleotide binding|RNA binding							166.835228	KEEP	23	28	-1	42	29	23	28	-1	167.413155	42	29	0.422018	1	0	0	0	0	1	0	0	0	--	--		0	G			RBMS3_uc003cek.2_Missense_Mutation_p.T387R|RBMS3_uc010hfq.2_Missense_Mutation_p.T400R|RBMS3_uc003cem.2_Missense_Mutation_p.T385R|RBMS3_uc010hfr.2_Missense_Mutation_p.T387R	228	GBM-32-1970-TP	p.T403R	C	TCTCCCCAGACAGTGGCACCT	NM_001003793	NP_001003793	30032601	Q6XE24	RBMS3_HUMAN	0			14	1438	+	G	G		Ovarian(412;0.0956)	Missense_Mutation	403						
RBMX	0	broad.mit.edu	GRCh37	X	135961585	135961586	+	frameshift_variant,start_lost	Frame_Shift_Ins	INS	-	-	T			TCGA-12-0692-01	TCGA-12-0692-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320676.7:c.1dupA	p.Met1?	p.M1?	ENST00000320676	NM_002139.3	1	atg/aAtg	0		T:0.0038	1	T:0.0043		T	M/NX	uc004fae.1	protein_coding	YES	CCDS14661.1			1-2/1176									ovary(1)	1	c.(1-3)ATGfs			hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF294	RNA binding motif protein, X-linked isoform 1		T:0.002		ENSP00000359645	T:0.002	9-Feb									rs369256758,COSM1490533,COSM1490534	9-Feb	.		ENST00000320676	Transcript		T:0.0034		catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	ENSG00000147274	g.chrX:135961585_135961586insT	9910			HIGH								--	--	1																																		RBMX_uc011mwf.1_Frame_Shift_Ins_p.M1fs|RBMX_uc004fad.1_Frame_Shift_Ins_p.M1fs|RBMX_uc011mwg.1_Translation_Start_Site|RBMX_uc004faf.1_Translation_Start_Site|RBMX_uc010nsf.1_Intron|RBMX_uc004fag.1_Intron|SNORD61_uc004fah.1_5'Flank	0,1,1	1			p.M1fs	NM_002139	NP_002130	T:0.001		0,1,1	RBMX_HUMAN	RBMX	HGNC	P38159	HNRPG_HUMAN			H3BUY5_HUMAN,B4E352_HUMAN,B3KRG5_HUMAN		2	211_212	-	Acute lymphoblastic leukemia(192;0.000127)		UPI0000134535	1					insertion	RBMX,frameshift_variant,p.Met1?,ENST00000562646,;RBMX,frameshift_variant,p.Met1?,ENST00000320676,NM_002139.3;RBMX,frameshift_variant,p.Met1?,ENST00000431446,NM_001164803.1;RBMX,frameshift_variant,p.Met3AsnfsTer3,ENST00000419968,;RBMX,5_prime_UTR_variant,,ENST00000570135,;RBMX,intron_variant,,ENST00000565438,;SNORD61,upstream_gene_variant,,ENST00000384252,NR_002735.1;RBMX,non_coding_transcript_exon_variant,,ENST00000567262,;RBMX,frameshift_variant,p.Met1?,ENST00000568578,;RBMX,frameshift_variant,p.Met1?,ENST00000464781,;RBMX,frameshift_variant,p.Met1?,ENST00000563370,;RBMX,non_coding_transcript_exon_variant,,ENST00000565907,;	uc004fae.1	c.1_2insA	156-157/2012	5	5			c.1_2insA						23	INS	c.(1-3)ATGfs	43	43			ovary(1)	1	Broad	RNA binding motif protein, X-linked isoform 1			135961586		0.391	ENSG00000147274	12940	g.chrX:135961585_135961586insT		catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding																				0.05	1	0	0	1	1	0	0	0	0	--	--		0	T			RBMX_uc011mwf.1_Frame_Shift_Ins_p.M1fs|RBMX_uc004fad.1_Frame_Shift_Ins_p.M1fs|RBMX_uc011mwg.1_Translation_Start_Site|RBMX_uc004faf.1_Translation_Start_Site|RBMX_uc010nsf.1_Intron|RBMX_uc004fag.1_Intron|SNORD61_uc004fah.1_5'Flank	122	GBM-12-0692-TP	p.M1fs	-	TGCTTCAACCATGTTTTTTTTT	NM_002139	NP_002130	135961585	P38159	HNRPG_HUMAN	0			2	211_212	-	T	T	Acute lymphoblastic leukemia(192;0.000127)		Frame_Shift_Ins	1						
RBMXL1	494115		GRCh37	1	89448604	89448605	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	GG			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000399794.2:c.904_905dup	p.Ser303HisfsTer51	p.S303Hfs*51	ENST00000399794	NM_001162536.2	302	cca/ccCCa	0																																																																																																																																																																																																																																												
RBMXL2	27288	broad.mit.edu	GRCh37	11	7111041	7111041	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-06-0137-01	TCGA-06-0137-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306904.5:c.690T>G	p.Gly230=	p.G230=	ENST00000306904	NM_014469.4	230	ggT/ggG	0			1			G	G	uc001mfc.2	protein_coding	YES	CCDS7777.1			690/1179										0	c.(688-690)GGT>GGG			hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF306	testes-specific heterogenous nuclear				ENSP00000304139		1-Jan									rs540744917	1-Jan	.		ENST00000306904	Transcript				nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	ENSG00000170748	g.chr11:7111041T>G	17886			LOW								--	--	1																																				1			p.G230G	NM_014469	NP_055284				RMXL2_HUMAN	RBMXL2	HGNC	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)			1	877	+			UPI000013EBA5	230			Arg/Gly/Pro-rich.		SNV	RBMXL2,synonymous_variant,p.=,ENST00000306904,NM_014469.4;	uc001mfc.2	c.690T>G	877/2215	3	3			c.690T>G						11	SNP	c.(688-690)GGT>GGG	52	52				0	Broad	testes-specific heterogenous nuclear			7111041		0.692	ENSG00000170748	12943	g.chr11:7111041T>G		nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding							3.840768	KEEP	3	7	-1	16	11	3	7	-1	6.492306	16	11	0.2	1	0	0	0	0	0	0	1	0	--	--		0	G				18	GBM-06-0137-TP	p.G230G	T	AACCCCGGGGTTTTGCCCCCT	NM_014469	NP_055284	7111041	O75526	HNRGT_HUMAN	0		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	877	+	G	G			Silent	230			Arg/Gly/Pro-rich.			
RBMXL2	27288	broad.mit.edu	GRCh37	11	7110545	7110545	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01	TCGA-06-0219-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306904.5:c.194C>T	p.Ala65Val	p.A65V	ENST00000306904	NM_014469.4	65	gCc/gTc	0			1			T	A/V	uc001mfc.2	protein_coding	YES	CCDS7777.1			194/1179										0	c.(193-195)GCC>GTC			PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF306,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00361,SMART_domains:SM00360,Superfamily_domains:SSF54928	testes-specific heterogenous nuclear				ENSP00000304139		1-Jan									COSM2150946	1-Jan	.		ENST00000306904	Transcript				nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	ENSG00000170748	g.chr11:7110545C>T	17886			MODERATE		2.47	medium	getma.org/?cm=msa&ty=f&p=RMXL2_HUMAN&rb=8&re=86&var=A65V	getma.org/pdb.php?prot=RMXL2_HUMAN&from=8&to=86&var=A65V	getma.org/?cm=var&var=hg19,11,7110545,C,T&fts=all	A65V	--	--	1																																			1	1		probably_damaging(0.909)	p.A65V	NM_014469	NP_055284		deleterious(0.01)	1	RMXL2_HUMAN	RBMXL2	HGNC	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)			1	381	+			UPI000013EBA5	65			RRM.		SNV	RBMXL2,missense_variant,p.Ala65Val,ENST00000306904,NM_014469.4;	uc001mfc.2	c.194C>T	381/2215	1	1			c.194C>T						11	SNP	c.(193-195)GCC>GTC	9	9				0	Broad	testes-specific heterogenous nuclear			7110545		0.647	ENSG00000170748	12943	g.chr11:7110545C>T		nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding							14.338283	KEEP	4	4	-1	9	12	4	4	-1	15.36407	9	12	0.272727	1	0	0	0	0	1	0	0	0	--	--		0	T				52	GBM-06-0219-TP	p.A65V	C	GCCAAGGCCGCCGCCAGAGAC	NM_014469	NP_055284	7110545	O75526	HNRGT_HUMAN	0		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	381	+	T	T			Missense_Mutation	65			RRM.			
RBMXL2	27288	broad.mit.edu	GRCh37	11	7111073	7111073	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01	TCGA-06-2562-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306904.5:c.722G>A	p.Arg241His	p.R241H	ENST00000306904	NM_014469.4	241	cGc/cAc	0			1			A	R/H	uc001mfc.2	protein_coding	YES	CCDS7777.1			722/1179										0	c.(721-723)CGC>CAC			hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF306	testes-specific heterogenous nuclear				ENSP00000304139		1-Jan									COSM931555	1-Jan	.		ENST00000306904	Transcript				nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	ENSG00000170748	g.chr11:7111073G>A	17886			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=RMXL2_HUMAN&rb=201&re=392&var=R241H	NA	getma.org/?cm=var&var=hg19,11,7111073,G,A&fts=all	R241H	--	--	1																																			1	1		possibly_damaging(0.522)	p.R241H	NM_014469	NP_055284		tolerated(0.15)	1	RMXL2_HUMAN	RBMXL2	HGNC	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)			1	909	+			UPI000013EBA5	241			Arg/Gly/Pro-rich.		SNV	RBMXL2,missense_variant,p.Arg241His,ENST00000306904,NM_014469.4;	uc001mfc.2	c.722G>A	909/2215	2	2			c.722G>A						11	SNP	c.(721-723)CGC>CAC	34	34				0	Broad	testes-specific heterogenous nuclear			7111073		0.662	ENSG00000170748	12943	g.chr11:7111073G>A		nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding							29.946117	KEEP	7	13	-1	11	21	7	13	-1	30.447717	11	21	0.357143	1	0	0	0	0	1	0	0	0	--	--		0	A				85	GBM-06-2562-TP	p.R241H	G	TACACCCACCGCGATTACGGC	NM_014469	NP_055284	7111073	O75526	HNRGT_HUMAN	0		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	909	+	A	A			Missense_Mutation	241			Arg/Gly/Pro-rich.			
RBP3	5949	broad.mit.edu	GRCh37	10	48389546	48389546	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000224600.4:c.1332C>T	p.Phe444=	p.F444=	ENST00000224600	NM_002900.2	444	ttC/ttT	0		C:0	1	C:0		A	F	uc001jez.2	protein_coding	YES	CCDS7218.1			1332/3744									large_intestine(1)|central_nervous_system(1)	2	c.(1330-1332)TTC>TTT			hmmpanther:PTHR11261,hmmpanther:PTHR11261:SF1,Pfam_domain:PF03572,Gene3D:3.90.226.10,SMART_domains:SM00245,Superfamily_domains:SSF52096	retinol-binding protein 3 precursor	Vitamin A(DB00162)	C:0.001		ENSP00000224600	C:0	4-Jan	8.24E-06					1.52E-05			rs200626545,COSM684227	4-Jan	.		ENST00000224600	Transcript	1	C:0.0002	lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	ENSG00000107618	g.chr10:48389546G>A	9921			LOW								--	--	1																																			0,1	1			p.F444F	NM_002900	NP_002891	C:0		0,1	RET3_HUMAN	RBP3	HGNC	P10745	RET3_HUMAN					1	1446	-			UPI000012D87A	444			4 X approximate tandem repeats.|2.		SNV	RBP3,synonymous_variant,p.=,ENST00000224600,NM_002900.2;AL731561.2,downstream_gene_variant,,ENST00000581861,;	uc001jez.2	c.1332C>T	1446/4276	1	1			c.1332C>T						10	SNP	c.(1330-1332)TTC>TTT	56	56			large_intestine(1)|central_nervous_system(1)	2	Broad	retinol-binding protein 3 precursor		Vitamin A(DB00162)	48389546		0.617	ENSG00000107618	12946	g.chr10:48389546G>A	lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity							67.915023	KEEP	10	15	-1	16	19	10	15	-1	68.173709	16	19	0.425926	1	0	0	0	0	0	0	1	0	--	--		0	A				58	GBM-06-0644-TP	p.F444F	G	CAAAACTATCGAAGCGCAGGT	NM_002900	NP_002891	48389546	P10745	RET3_HUMAN	0			1	1446	-	A	A			Silent	444			4 X approximate tandem repeats.|2.			
RBP3	0	broad.mit.edu	GRCh37	10	48389610	48389610	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-6698-01	TCGA-06-6698-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000224600.4:c.1268A>T	p.Gln423Leu	p.Q423L	ENST00000224600	NM_002900.2	423	cAa/cTa	0			1			A	Q/L	uc001jez.2	protein_coding	YES	CCDS7218.1			1268/3744									large_intestine(1)|central_nervous_system(1)	2	c.(1267-1269)CAA>CTA			hmmpanther:PTHR11261,hmmpanther:PTHR11261:SF1,Gene3D:3.90.226.10,SMART_domains:SM00245,Superfamily_domains:SSF52096	retinol-binding protein 3 precursor	Vitamin A(DB00162)			ENSP00000224600		4-Jan									COSM3397142	4-Jan	.		ENST00000224600	Transcript	1		lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	ENSG00000107618	g.chr10:48389610T>A	9921			MODERATE		2.335	medium	getma.org/?cm=msa&ty=f&p=RET3_HUMAN&rb=308&re=437&var=Q423L	getma.org/pdb.php?prot=RET3_HUMAN&from=308&to=437&var=Q423L	getma.org/?cm=var&var=hg19,10,48389610,T,A&fts=all	Q423L	--	--	1																																			1	1		benign(0.019)	p.Q423L	NM_002900	NP_002891		tolerated(0.15)	1	RET3_HUMAN	RBP3	HGNC	P10745	RET3_HUMAN					1	1382	-			UPI000012D87A	423			4 X approximate tandem repeats.|2.		SNV	RBP3,missense_variant,p.Gln423Leu,ENST00000224600,NM_002900.2;AL731561.2,downstream_gene_variant,,ENST00000581861,;	uc001jez.2	c.1268A>T	1382/4276	1	1			c.1268A>T						10	SNP	c.(1267-1269)CAA>CTA	61	61			large_intestine(1)|central_nervous_system(1)	2	Broad	retinol-binding protein 3 precursor		Vitamin A(DB00162)	48389610		0.627	ENSG00000107618	12946	g.chr10:48389610T>A	lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity							17.816728	KEEP	4	6	-1	23	34	4	6	-1	23.696629	23	34	0.172414	1	0	0	0	0	1	0	0	0	--	--		0	A				112	GBM-06-6698-TP	p.Q423L	T	CACCAGTGCTTGCCGGATAGC	NM_002900	NP_002891	48389610	P10745	RET3_HUMAN	0			1	1382	-	A	A			Missense_Mutation	423			4 X approximate tandem repeats.|2.			
RBPJL	11317	broad.mit.edu	GRCh37	20	43940278	43940278	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0171-01	TCGA-06-0171-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343694.3:c.307G>A	p.Val103Met	p.V103M	ENST00000343694	NM_001281449.1	103	Gtg/Atg	0			1			A	V/M	uc002xns.2	protein_coding	YES	CCDS13349.1			307/1554									ovary(1)	1	c.(307-309)GTG>ATG			hmmpanther:PTHR10665,hmmpanther:PTHR10665:SF2,Gene3D:2.60.40.1450,Pfam_domain:PF09271,Superfamily_domains:SSF49417	recombining binding protein L				ENSP00000341243		12-Apr									COSM3405143	12-Apr	.		ENST00000343694	Transcript			signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000124232	g.chr20:43940278G>A	13761			MODERATE		0.2	neutral	getma.org/?cm=msa&ty=f&p=RBPJL_HUMAN&rb=68&re=206&var=V103M	getma.org/pdb.php?prot=RBPJL_HUMAN&from=68&to=206&var=V103M	getma.org/?cm=var&var=hg19,20,43940278,G,A&fts=all	V103M	--	--	1																																OREG0025979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	RBPJL_uc002xnt.2_Missense_Mutation_p.V103M	1	1		possibly_damaging(0.707)	p.V103M	NM_014276	NP_055091		tolerated(0.26)	1	RBPJL_HUMAN	RBPJL	HGNC	Q9UBG7	RBPJL_HUMAN					4	379	+		Myeloproliferative disorder(115;0.0122)	UPI0000047297	103					SNV	RBPJL,missense_variant,p.Val103Met,ENST00000343694,NM_001281449.1,NM_014276.3,NM_001281448.1;RBPJL,missense_variant,p.Val103Met,ENST00000372741,;RBPJL,missense_variant,p.Val103Met,ENST00000372743,;MATN4,upstream_gene_variant,,ENST00000537548,NM_003833.4;MATN4,upstream_gene_variant,,ENST00000342716,;MATN4,upstream_gene_variant,,ENST00000360607,NM_030590.3;MATN4,upstream_gene_variant,,ENST00000353917,NM_030592.3;MATN4,upstream_gene_variant,,ENST00000372751,;RBPJL,upstream_gene_variant,,ENST00000464504,;	uc002xns.2	c.307G>A	379/1830	2	2			c.307G>A						20	SNP	c.(307-309)GTG>ATG	18	18			ovary(1)	1	Broad	recombining binding protein L			43940278		0.642	ENSG00000124232	12951	g.chr20:43940278G>A	signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity							39.411171	KEEP	11	10	-1	38	42	11	10	-1	45.661419	38	42	0.22093	1	0	0	0	0	1	0	0	0	--	--		0	A	OREG0025979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	RBPJL_uc002xnt.2_Missense_Mutation_p.V103M	35	GBM-06-0171-TP	p.V103M	G	TGGCTGGAGGGTGAAGCCAGG	NM_014276	NP_055091	43940278	Q9UBG7	RBPJL_HUMAN	0			4	379	+	A	A		Myeloproliferative disorder(115;0.0122)	Missense_Mutation	103						
RBPJL	0	broad.mit.edu	GRCh37	20	43938206	43938206	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T			TCGA-14-1823-01	TCGA-14-1823-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343694.3:c.132-1G>T		p.X44_splice	ENST00000343694	NM_001281449.1			0			1			T		uc002xns.2	protein_coding	YES	CCDS13349.1			132/1554									ovary(1)	1	c.e3-1				recombining binding protein L				ENSP00000341243											COSM3405142		.		ENST00000343694	Transcript			signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000124232	g.chr20:43938206G>T	13761			HIGH	11-Feb							--	--	1																																		MATN4_uc002xnn.2_5'Flank|MATN4_uc002xno.2_5'Flank|MATN4_uc002xnp.2_5'Flank|MATN4_uc002xnr.1_5'Flank|RBPJL_uc002xnt.2_Splice_Site_p.R44_splice	1	1			p.R44_splice	NM_014276	NP_055091			1	RBPJL_HUMAN	RBPJL	HGNC	Q9UBG7	RBPJL_HUMAN					3	204	+		Myeloproliferative disorder(115;0.0122)	UPI0000047297						SNV	RBPJL,splice_acceptor_variant,,ENST00000343694,NM_001281449.1,NM_014276.3,NM_001281448.1;RBPJL,splice_acceptor_variant,,ENST00000372741,;RBPJL,splice_acceptor_variant,,ENST00000372743,;MATN4,upstream_gene_variant,,ENST00000537548,NM_003833.4;MATN4,upstream_gene_variant,,ENST00000342716,;MATN4,upstream_gene_variant,,ENST00000372754,;MATN4,upstream_gene_variant,,ENST00000360607,NM_030590.3;MATN4,upstream_gene_variant,,ENST00000372756,;MATN4,upstream_gene_variant,,ENST00000353917,NM_030592.3;MATN4,upstream_gene_variant,,ENST00000372751,;RBPJL,upstream_gene_variant,,ENST00000464504,;	uc002xns.2	c.132_splice	-/1830	5	1			c.132_splice						20	SNP	c.e3-1	7	7			ovary(1)	1	Broad	recombining binding protein L			43938206		0.607	ENSG00000124232	12951	g.chr20:43938206G>T	signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity							12.463137	KEEP	6	3	0.666666667	19	25	6	3	0.666666667	17.533075	19	25	0.166667	1	0	0	0	0	0	0	0	1	--	--		0	T			MATN4_uc002xnn.2_5'Flank|MATN4_uc002xno.2_5'Flank|MATN4_uc002xnp.2_5'Flank|MATN4_uc002xnr.1_5'Flank|RBPJL_uc002xnt.2_Splice_Site_p.R44_splice	147	GBM-14-1823-TP	p.R44_splice	G	CCTACTCCCAGGTCATCCCCA	NM_014276	NP_055091	43938206	Q9UBG7	RBPJL_HUMAN	0			3	204	+	T	T		Myeloproliferative disorder(115;0.0122)	Splice_Site							
RCAN1	0	broad.mit.edu	GRCh37	21	35890504	35890504	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5960-01	TCGA-19-5960-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313806.4:c.637G>A	p.Val213Ile	p.V213I	ENST00000313806	NM_004414.5	213	Gtc/Atc	0			1			T	V/I	uc002yue.2	protein_coding	YES	CCDS13637.1			637/759										0	c.(637-639)GTC>ATC			Pfam_domain:PF04847,hmmpanther:PTHR10300,hmmpanther:PTHR10300:SF4	calcipressin 1 isoform a				ENSP00000320768		4-Apr									COSM3405379,COSM3405380,COSM3405381	4-Apr	.		ENST00000313806	Transcript			blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	ENSG00000159200	g.chr21:35890504C>T	3040			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=RCAN1_HUMAN&rb=75&re=246&var=V213I	NA	getma.org/?cm=var&var=hg19,21,35890504,C,T&fts=all	V213I	--	--	1																																		RCAN1_uc002yuc.2_Missense_Mutation_p.V132I|RCAN1_uc002yud.2_Missense_Mutation_p.V78I|RCAN1_uc002yub.2_Missense_Mutation_p.V158I	1,1,1	1		probably_damaging(0.996)	p.V213I	NM_004414	NP_004405		tolerated(0.09)	1,1,1	RCAN1_HUMAN	RCAN1	HGNC	P53805	RCAN1_HUMAN			Q9H2A1_HUMAN		4	709	-			UPI00001B4EA7	213					SNV	RCAN1,missense_variant,p.Val203Ile,ENST00000481448,NM_001285391.2;RCAN1,missense_variant,p.Val78Ile,ENST00000482533,NM_001285393.2;RCAN1,missense_variant,p.Val78Ile,ENST00000487990,;RCAN1,missense_variant,p.Val213Ile,ENST00000313806,NM_004414.5;RCAN1,missense_variant,p.Val158Ile,ENST00000381132,NM_203418.1,NM_001285392.2;RCAN1,missense_variant,p.Val203Ile,ENST00000381135,;RCAN1,missense_variant,p.Val78Ile,ENST00000443408,NM_203417.1;RCAN1,missense_variant,p.Val132Ile,ENST00000399272,NM_001285389.2;RCAN1,downstream_gene_variant,,ENST00000492600,;RCAN1,non_coding_transcript_exon_variant,,ENST00000489903,;RCAN1,intron_variant,,ENST00000487434,;RCAN1,downstream_gene_variant,,ENST00000609325,;	uc002yue.2	c.637G>A	768/2490	1	1			c.637G>A						21	SNP	c.(637-639)GTC>ATC	4	4				0	Broad	calcipressin 1 isoform a			35890504		0.493	ENSG00000159200	12957	g.chr21:35890504C>T	blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity							128.418048	KEEP	23	24	-1	27	28	23	24	-1	128.640777	27	28	0.447917	1	0	0	0	0	1	0	0	0	--	--		0	T			RCAN1_uc002yuc.2_Missense_Mutation_p.V132I|RCAN1_uc002yud.2_Missense_Mutation_p.V78I|RCAN1_uc002yub.2_Missense_Mutation_p.V158I	178	GBM-19-5960-TP	p.V213I	C	CATACATGGACCACCACGCTG	NM_004414	NP_004405	35890504	P53805	RCAN1_HUMAN	0			4	709	-	T	T			Missense_Mutation	213						
RCAN3	0	broad.mit.edu	GRCh37	1	24857822	24857822	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-12-5299-01	TCGA-12-5299-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374395.4:c.310C>T	p.Arg104Ter	p.R104*	ENST00000374395	NM_001251984.1	104	Cga/Tga	0			1			T	R/*	uc001bjj.2	protein_coding	YES	CCDS254.1			310/726										0	c.(310-312)CGA>TGA			hmmpanther:PTHR10300,hmmpanther:PTHR10300:SF6,Gene3D:3.30.70.330,Pfam_domain:PF04847,Superfamily_domains:SSF54928	Down syndrome critical region gene 1-like 2				ENSP00000363516		5-Mar									rs535171467,COSM2233643	5-Mar	.		ENST00000374395	Transcript			anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding	ENSG00000117602	g.chr1:24857822C>T	3042			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,24857822,C,T&fts=all	R104*	--	--	1																																		RCAN3_uc009vrd.2_Nonsense_Mutation_p.R104*|RCAN3_uc009vre.2_Intron|RCAN3_uc009vrf.2_Nonsense_Mutation_p.R104*|RCAN3_uc009vrg.2_Intron	0,1	1			p.R104*	NM_013441	NP_038469			0,1	RCAN3_HUMAN	RCAN3	HGNC	Q9UKA8	RCAN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)	Q5TGC7_HUMAN,G1FLF0_HUMAN,E5L4P7_HUMAN,E5L4P0_HUMAN,E3VWE2_HUMAN,C8CJH0_HUMAN		3	623	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	UPI0000001C4A	104					SNV	RCAN3,stop_gained,p.Arg104Ter,ENST00000374395,NM_001251984.1,NM_001251978.1,NM_001251979.1;RCAN3,stop_gained,p.Arg104Ter,ENST00000436717,NM_001251977.1,NM_013441.3,NM_001251980.1;RCAN3,stop_gained,p.Arg104Ter,ENST00000412742,NM_001251982.1;RCAN3,intron_variant,,ENST00000538532,NM_001251981.1;RCAN3,intron_variant,,ENST00000374393,NM_001251985.1;RN7SL857P,upstream_gene_variant,,ENST00000580228,;RCAN3,upstream_gene_variant,,ENST00000482807,;	uc001bjj.2	c.310C>T	623/6802	5	2			c.310C>T						1	SNP	c.(310-312)CGA>TGA	17	17				0	Broad	Down syndrome critical region gene 1-like 2			24857822		0.413	ENSG00000117602	12959	g.chr1:24857822C>T	anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding							124.610725	KEEP	21	26	-1	44	37	21	26	-1	126.616329	44	37	0.361345	1	0	0	0	0	0	1	0	0	--	--		0	T			RCAN3_uc009vrd.2_Nonsense_Mutation_p.R104*|RCAN3_uc009vre.2_Intron|RCAN3_uc009vrf.2_Nonsense_Mutation_p.R104*|RCAN3_uc009vrg.2_Intron	130	GBM-12-5299-TP	p.R104*	C	AGCAAGAGCGCGAATAGAACT	NM_013441	NP_038469	24857822	Q9UKA8	RCAN3_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)	3	623	+	T	T		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	Nonsense_Mutation	104						
RCBTB1	55213	broad.mit.edu	GRCh37	13	50140816	50140816	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6388-01	TCGA-06-6388-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378302.2:c.215G>A	p.Cys72Tyr	p.C72Y	ENST00000378302	NM_018191.3	72	tGt/tAt	0			1			T	C/Y	uc001vde.1	protein_coding		CCDS9418.1			215/1596									ovary(1)	1	c.(214-216)TGT>TAT			PROSITE_profiles:PS50012,hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF133,Gene3D:2.130.10.30,Pfam_domain:PF00415,Superfamily_domains:SSF50985	regulator of chromosome condensation (RCC1) and				ENSP00000258646		11-Feb									COSM3399408	11-Feb	.		ENST00000258646	Transcript			cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		ENSG00000136144	g.chr13:50140816C>T	18243			MODERATE		2.11	medium	getma.org/?cm=msa&ty=f&p=RCBT1_HUMAN&rb=40&re=89&var=C72Y	NA	getma.org/?cm=var&var=hg19,13,50140816,C,T&fts=all	C72Y	--	--	1																																			1			probably_damaging(0.918)	p.C72Y	NM_018191	NP_060661		deleterious(0.01)	1	RCBT1_HUMAN	RCBTB1	HGNC	Q8NDN9	RCBT1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)	Q9NVI3_HUMAN,B3KR20_HUMAN		4	476	-		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	UPI000007181F	72			RCC1 1.		SNV	RCBTB1,missense_variant,p.Cys72Tyr,ENST00000378302,NM_018191.3;RCBTB1,missense_variant,p.Cys72Tyr,ENST00000258646,;RCBTB1,missense_variant,p.Cys72Tyr,ENST00000546015,;	uc001vde.1	c.215G>A	259/3816	1	1			c.215G>A						13	SNP	c.(214-216)TGT>TAT	1	1			ovary(1)	1	Broad	regulator of chromosome condensation (RCC1) and			50140816		0.408	ENSG00000136144	12960	g.chr13:50140816C>T	cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus								83.099997	KEEP	27	11	-1	41	41	27	11	-1	86.26596	41	41	0.317757	1	0	0	0	0	1	0	0	0	--	--		0	T				104	GBM-06-6388-TP	p.C72Y	C	CTTCTTTCCACATAAGCCTTC	NM_018191	NP_060661	50140816	Q8NDN9	RCBT1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)	4	476	-	T	T		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	Missense_Mutation	72			RCC1 1.			
RCC1	0	broad.mit.edu	GRCh37	1	28858379	28858379	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-32-5222-01	TCGA-32-5222-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373832.1:c.139delC	p.Gln47SerfsTer8	p.Q47Sfs*8	ENST00000373832	NM_001269.4	46	ggC/gg	0			1			-	G/X	uc001bqg.1	protein_coding		CCDS323.1			138/1266									ovary(1)	1	c.(136-138)GGCfs			Low_complexity_(Seg):seg,PROSITE_profiles:PS50012,hmmpanther:PTHR22870:SF123,hmmpanther:PTHR22870,Pfam_domain:PF00415,Gene3D:2.130.10.30,Superfamily_domains:SSF50985,Prints_domain:PR00633	regulator of chromosome condensation 1 isoform				ENSP00000362938		10-Mar										10-Mar	.		ENST00000373832	Transcript			cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity	ENSG00000180198	g.chr1:28858379delC	1913	1		HIGH								--	--	1																																		SNHG3-RCC1_uc001bqa.1_Frame_Shift_Del_p.G46fs|SNHG3-RCC1_uc001bqb.1_Frame_Shift_Del_p.G46fs|SNHG3-RCC1_uc001bqc.1_Frame_Shift_Del_p.G46fs|RCC1_uc001bqe.1_Frame_Shift_Del_p.G63fs|RCC1_uc001bqf.1_Frame_Shift_Del_p.G77fs					p.G46fs	NM_001269	NP_001260				RCC1_HUMAN	RCC1	HGNC	P18754	RCC1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)	Q5T081_HUMAN,C9JRH2_HUMAN,C9JQZ4_HUMAN,C9JMJ4_HUMAN		3	223	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)	UPI0000001660	46			RCC1 1.		deletion	RCC1,frameshift_variant,p.Gln47SerfsTer8,ENST00000373833,;RCC1,frameshift_variant,p.Gln47SerfsTer8,ENST00000398958,NM_001048199.2;RCC1,frameshift_variant,p.Gln47SerfsTer8,ENST00000373832,NM_001269.4;RCC1,frameshift_variant,p.Gln78SerfsTer8,ENST00000373831,NM_001048194.2,NM_001048195.2;RCC1,frameshift_variant,p.Gln64SerfsTer8,ENST00000411533,;RCC1,frameshift_variant,p.Gln47SerfsTer8,ENST00000430407,;RCC1,frameshift_variant,p.Gln55SerfsTer8,ENST00000434290,;RCC1,frameshift_variant,p.Gln47SerfsTer8,ENST00000419074,;RCC1,frameshift_variant,p.Gln47SerfsTer8,ENST00000427469,;RCC1,downstream_gene_variant,,ENST00000486790,;RCC1,upstream_gene_variant,,ENST00000429051,;RCC1,upstream_gene_variant,,ENST00000478232,;PRDX3P2,upstream_gene_variant,,ENST00000447051,;	uc001bqg.1	c.138delC	320/2424	5	5			c.138delC						1	DEL	c.(136-138)GGCfs	57	57			ovary(1)	1	Broad	regulator of chromosome condensation 1 isoform			28858379		0.607	ENSG00000180198	12962	g.chr1:28858379delC	cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity																				0.27	1	1	0	1	0	0	0	0	0	--	--		0	-			SNHG3-RCC1_uc001bqa.1_Frame_Shift_Del_p.G46fs|SNHG3-RCC1_uc001bqb.1_Frame_Shift_Del_p.G46fs|SNHG3-RCC1_uc001bqc.1_Frame_Shift_Del_p.G46fs|RCC1_uc001bqe.1_Frame_Shift_Del_p.G63fs|RCC1_uc001bqf.1_Frame_Shift_Del_p.G77fs	249	GBM-32-5222-TP	p.G46fs	C	GCGACGTGGGCCAGCTGGGGC	NM_001269	NP_001260	28858379	P18754	RCC1_HUMAN	0		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)	3	223	+	-	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)	Frame_Shift_Del	46			RCC1 1.			
RCN1	0	broad.mit.edu	GRCh37	11	32119964	32119964	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-1390-01	TCGA-19-1390-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000054950.3:c.517A>G	p.Arg173Gly	p.R173G	ENST00000054950	NM_002901.2	173	Aga/Gga	0			1			G	R/G	uc010reb.1	protein_coding	YES	CCDS7876.1			517/996									large_intestine(1)	1	c.(517-519)AGA>GGA			Gene3D:1.10.238.10,Pfam_domain:PF13499,PROSITE_profiles:PS50222,hmmpanther:PTHR10827,hmmpanther:PTHR10827:SF17,Superfamily_domains:SSF47473	reticulocalbin 1 precursor				ENSP00000054950		6-Mar									COSM3397636	6-Mar	.		ENST00000054950	Transcript				endoplasmic reticulum lumen	calcium ion binding	ENSG00000049449	g.chr11:32119964A>G	9934			MODERATE		3.06	medium	getma.org/?cm=msa&ty=f&p=RCN1_HUMAN&rb=170&re=232&var=R173G	NA	getma.org/?cm=var&var=hg19,11,32119964,A,G&fts=all	R173G	--	--	1																																		RCN1_uc010rea.1_Missense_Mutation_p.R122G|RCN1_uc001mtk.2_Missense_Mutation_p.R7G	1	1		probably_damaging(0.991)	p.R173G	NM_002901	NP_002892		deleterious(0)	1	RCN1_HUMAN	RCN1	HGNC	Q15293	RCN1_HUMAN			Q5J7V8_HUMAN,H0YDA4_HUMAN,E9PP27_HUMAN,E9PLM2_HUMAN		3	783	+	Lung SC(675;0.225)		UPI0000000CA7	173			EF-hand 3.		SNV	RCN1,missense_variant,p.Arg173Gly,ENST00000054950,NM_002901.2;RCN1,missense_variant,p.Arg122Gly,ENST00000532942,;RCN1,missense_variant,p.Arg7Gly,ENST00000530348,;RCN1,missense_variant,p.Arg7Gly,ENST00000532721,;RP1-65P5.3,intron_variant,,ENST00000533009,;RCN1,upstream_gene_variant,,ENST00000532474,;RCN1,non_coding_transcript_exon_variant,,ENST00000533898,;RCN1,upstream_gene_variant,,ENST00000531345,;RCN1,upstream_gene_variant,,ENST00000527337,;	uc010reb.1	c.517A>G	810/2572	3	3			c.517A>G						11	SNP	c.(517-519)AGA>GGA	13	13			large_intestine(1)	1	Broad	reticulocalbin 1 precursor			32119964		0.433	ENSG00000049449	12968	g.chr11:32119964A>G		endoplasmic reticulum lumen	calcium ion binding							110.047814	KEEP	17	16	-1	15	22	17	16	-1	110.102048	15	22	0.46875	1	0	0	0	0	1	0	0	0	--	--		0	G			RCN1_uc010rea.1_Missense_Mutation_p.R122G|RCN1_uc001mtk.2_Missense_Mutation_p.R7G	159	GBM-19-1390-TP	p.R173G	A	ACGTGATGAGAGAAGATTCAA	NM_002901	NP_002892	32119964	Q15293	RCN1_HUMAN	0			3	783	+	G	G	Lung SC(675;0.225)		Missense_Mutation	173			EF-hand 3.			
RCN3	57333	broad.mit.edu	GRCh37	19	50042431	50042431	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0155-01	TCGA-06-0155-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000270645.3:c.674A>G	p.Tyr225Cys	p.Y225C	ENST00000270645	NM_020650.2	225	tAc/tGc	0			1			G	Y/C	uc002poj.2	protein_coding	YES	CCDS12771.1			674/987									ovary(1)	1	c.(673-675)TAC>TGC			PROSITE_profiles:PS50222,hmmpanther:PTHR10827:SF47,hmmpanther:PTHR10827,PROSITE_patterns:PS00018,Pfam_domain:PF13202,Gene3D:1.10.238.10,SMART_domains:SM00054,Superfamily_domains:SSF47473	reticulocalbin 3, EF-hand calcium binding domain				ENSP00000270645		7-May									COSM3404457	7-May	.		ENST00000270645	Transcript				endoplasmic reticulum lumen	calcium ion binding|protein binding	ENSG00000142552	g.chr19:50042431A>G	21145			MODERATE		4.21	high	getma.org/?cm=msa&ty=f&p=RCN3_HUMAN&rb=184&re=250&var=Y225C	NA	getma.org/?cm=var&var=hg19,19,50042431,A,G&fts=all	Y225C	--	--	1																																			1	1		probably_damaging(0.984)	p.Y225C	NM_020650	NP_065701		deleterious(0)	1	RCN3_HUMAN	RCN3	HGNC	Q96D15	RCN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)			5	1121	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	UPI000000D8C5	225			EF-hand 4.		SNV	RCN3,missense_variant,p.Tyr225Cys,ENST00000270645,NM_020650.2;RCN3,intron_variant,,ENST00000598833,;RCN3,upstream_gene_variant,,ENST00000593483,;RCN3,downstream_gene_variant,,ENST00000597801,;RCN3,downstream_gene_variant,,ENST00000593644,;	uc002poj.2	c.674A>G	1121/1859	4	4			c.674A>G						19	SNP	c.(673-675)TAC>TGC	32	32			ovary(1)	1	Broad	reticulocalbin 3, EF-hand calcium binding domain			50042431		0.587	ENSG00000142552	12970	g.chr19:50042431A>G		endoplasmic reticulum lumen	calcium ion binding|protein binding							-0.36941	KEEP	3	5	-1	56	64	3	5	-1	22.147663	56	64	0.068376	1	0	0	0	0	1	0	0	0	--	--		0	G				27	GBM-06-0155-TP	p.Y225C	A	GTGGAGGAGTACATCGGTGAG	NM_020650	NP_065701	50042431	Q96D15	RCN3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)	5	1121	+	G	G		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	Missense_Mutation	225			EF-hand 4.			
RCOR1	23186	broad.mit.edu	GRCh37	14	103174815	103174815	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0213-01	TCGA-06-0213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262241.6:c.674C>G	p.Ser225Cys	p.S225C	ENST00000262241	NM_015156.3	225	tCt/tGt	0			1			G	S/C	uc001ymb.2	protein_coding					665/1449									ovary(1)	1	c.(664-666)TCT>TGT			PROSITE_profiles:PS51293,hmmpanther:PTHR16089,hmmpanther:PTHR16089:SF11,SMART_domains:SM00717,Superfamily_domains:SSF46689	REST corepressor 1				ENSP00000459789		12-Jun									COSM3401122	12-Jun	.		ENST00000570597	Transcript			blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding	ENSG00000089902	g.chr14:103174815C>G	17441			MODERATE		2.92	medium	getma.org/?cm=msa&ty=f&p=RCOR1_HUMAN&rb=187&re=238&var=S222C	getma.org/pdb.php?prot=RCOR1_HUMAN&from=187&to=238&var=S222C	getma.org/?cm=var&var=hg19,14,103174815,C,G&fts=all	S222C	--	--	1																																			1			probably_damaging(0.971)	p.S222C	NM_015156	NP_055971		deleterious(0)	1	RCOR1_HUMAN	RCOR1	HGNC	Q9UKL0	RCOR1_HUMAN					6	665	+			UPI0000073120	222			Interaction with HDAC1.|SANT 1.		SNV	RCOR1,missense_variant,p.Ser225Cys,ENST00000262241,NM_015156.3;RCOR1,missense_variant,p.Ser222Cys,ENST00000570597,;RCOR1,upstream_gene_variant,,ENST00000558495,;	uc001ymb.2	c.665C>G	665/5518	3	3			c.665C>G						14	SNP	c.(664-666)TCT>TGT	16	16			ovary(1)	1	Broad	REST corepressor 1			103174815		0.299	ENSG00000089902	12971	g.chr14:103174815C>G	blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding							-84.470254	KEEP	4	3	-1	255	157	4	3	-1	11.272003	255	157	0.014045	1	0	0	0	0	1	0	0	0	--	--		0	G				49	GBM-06-0213-TP	p.S222C	C	CCAGATAAATCTATAGCAAGT	NM_015156	NP_055971	103174815	Q9UKL0	RCOR1_HUMAN	0			6	665	+	G	G			Missense_Mutation	222			Interaction with HDAC1.|SANT 1.			
RCSD1	0	broad.mit.edu	GRCh37	1	167667016	167667016	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2494-01	TCGA-32-2494-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367854.3:c.1155C>T	p.Thr385=	p.T385=	ENST00000367854	NM_052862.3	385	acC/acT	0			1			T	T	uc001gem.2	protein_coding	YES	CCDS1263.1			1155/1251									ovary(2)|central_nervous_system(2)|skin(1)	5	c.(1153-1155)ACC>ACT			hmmpanther:PTHR21669,hmmpanther:PTHR21669:SF2	RCSD domain containing 1				ENSP00000356828		7-Jun	8.49E-06								rs775053671,COSM3399959	7-Jun	.		ENST00000367854	Transcript						ENSG00000198771	g.chr1:167667016C>T	28310			LOW								--	--	1																																		RCSD1_uc010pli.1_Silent_p.T355T	0,1	1			p.T385T	NM_052862	NP_443094			0,1	CPZIP_HUMAN	RCSD1	HGNC	Q6JBY9	CPZIP_HUMAN					6	1342	+	all_hematologic(923;0.215)		UPI0000204CFA	385					SNV	RCSD1,synonymous_variant,p.=,ENST00000367854,NM_052862.3;RCSD1,synonymous_variant,p.=,ENST00000537350,;RCSD1,downstream_gene_variant,,ENST00000361496,;	uc001gem.2	c.1155C>T	1486/3135	2	2			c.1155C>T						1	SNP	c.(1153-1155)ACC>ACT	32	32			ovary(2)|central_nervous_system(2)|skin(1)	5	Broad	RCSD domain containing 1			167667016		0.642	ENSG00000198771	12974	g.chr1:167667016C>T										7.318669	KEEP	1	2	-1	5	8	1	2	-1	8.181897	5	8	0.230769	1	0	0	0	0	0	0	1	0	--	--		0	T			RCSD1_uc010pli.1_Silent_p.T355T	236	GBM-32-2494-TP	p.T385T	C	GCCCCCAGACCGGCCCTGCCC	NM_052862	NP_443094	167667016	Q6JBY9	CPZIP_HUMAN	0			6	1342	+	T	T	all_hematologic(923;0.215)		Silent	385						
RCVRN	0	broad.mit.edu	GRCh37	17	9808118	9808118	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-1390-01	TCGA-19-1390-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000226193.5:c.380T>C	p.Met127Thr	p.M127T	ENST00000226193	NM_002903.2	127	aTg/aCg	0			1			G	M/T	uc002gme.1	protein_coding	YES	CCDS11151.1			380/603										0	c.(379-381)ATG>ACG			PROSITE_profiles:PS50222,hmmpanther:PTHR23055:SF20,hmmpanther:PTHR23055,Pfam_domain:PF13499,Gene3D:1.10.238.10,SMART_domains:SM00054,Superfamily_domains:SSF47473,Prints_domain:PR00450	recoverin				ENSP00000226193		3-Jan									COSM3403426	3-Jan	.		ENST00000226193	Transcript			visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity	ENSG00000109047	g.chr17:9808118A>G	9937			MODERATE		-1.07	neutral	getma.org/?cm=msa&ty=f&p=RECO_HUMAN&rb=101&re=176&var=M127T	getma.org/pdb.php?prot=RECO_HUMAN&from=101&to=176&var=M127T	getma.org/?cm=var&var=hg19,17,9808118,A,G&fts=all	M127T	--	--	1																																			1	1		benign(0.001)	p.M127T	NM_002903	NP_002894		tolerated(0.72)	1	RECO_HUMAN	RCVRN	HGNC	P35243	RECO_HUMAN			Q53XL0_HUMAN,J3QL94_HUMAN		1	567	-			UPI0000000C33	127			EF-hand 3.		SNV	RCVRN,missense_variant,p.Met127Thr,ENST00000226193,NM_002903.2;RCVRN,upstream_gene_variant,,ENST00000570909,;	uc002gme.1	c.380T>C	821/2819	3	3			c.380T>C						17	SNP	c.(379-381)ATG>ACG	49	49				0	Broad	recoverin			9808118		0.642	ENSG00000109047	12975	g.chr17:9808118A>G	visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity							90.870217	KEEP	22	20	-1	63	65	22	20	-1	99.691176	63	65	0.248366	1	0	0	0	0	1	0	0	0	--	--		0	G				159	GBM-19-1390-TP	p.M127T	A	GAGACTGACCATGACGATCTC	NM_002903	NP_002894	9808118	P35243	RECO_HUMAN	0			1	567	-	G	G			Missense_Mutation	127			EF-hand 3.			
RDH8	0	broad.mit.edu	GRCh37	19	10131987	10131987	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01	TCGA-32-2495-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000171214.1:c.593C>T	p.Ala198Val	p.A198V	ENST00000171214	NM_015725.2	198	gCg/gTg	0			1			T	A/V	uc002mmr.2	protein_coding					593/936									ovary(3)|pancreas(1)	4	c.(592-594)GCG>GTG			hmmpanther:PTHR24322,hmmpanther:PTHR24322:SF259,Gene3D:3.40.50.720,PIRSF_domain:PIRSF000095,Superfamily_domains:SSF51735	retinol dehydrogenase 8 (all-trans)	Vitamin A(DB00162)			ENSP00000171214		6-May	8.24E-06			0.000116					rs754093769,COSM3403700,COSM3403701	6-May	.		ENST00000171214	Transcript			estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	ENSG00000080511	g.chr19:10131987C>T	14423			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=RDH8_HUMAN&rb=175&re=311&var=A198V	getma.org/pdb.php?prot=RDH8_HUMAN&from=175&to=311&var=A198V	getma.org/?cm=var&var=hg19,19,10131987,C,T&fts=all	A198V	--	--	1																																			0,1,1			benign(0.099)	p.A198V	NM_015725	NP_056540			0,1,1	RDH8_HUMAN	RDH8	HGNC	Q9NYR8	RDH8_HUMAN	Epithelial(33;4.24e-05)				5	842	+			UPI0000072C8A	198					SNV	RDH8,missense_variant,p.Ala218Val,ENST00000591589,;RDH8,missense_variant,p.Ala198Val,ENST00000171214,NM_015725.2;RDH8,splice_region_variant,,ENST00000587782,;RDH8,downstream_gene_variant,,ENST00000589570,;	uc002mmr.2	c.593C>T	842/1714	2	2			c.593C>T						19	SNP	c.(592-594)GCG>GTG	24	24			ovary(3)|pancreas(1)	4	Broad	retinol dehydrogenase 8 (all-trans)		Vitamin A(DB00162)	10131987		0.602	ENSG00000080511	12985	g.chr19:10131987C>T	estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity							143.680246	KEEP	38	40	-1	76	89	38	40	-1	151.15691	76	89	0.28877	1	0	0	0	0	1	0	0	0	--	--		0	T				237	GBM-32-2495-TP	p.A198V	C	AAGCTTCTGGCGCAGGTTTCT	NM_015725	NP_056540	10131987	Q9NYR8	RDH8_HUMAN	0	Epithelial(33;4.24e-05)		5	842	+	T	T			Missense_Mutation	198						
RDH8	0	broad.mit.edu	GRCh37	19	10131987	10131987	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01	TCGA-32-2632-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000171214.1:c.593C>T	p.Ala198Val	p.A198V	ENST00000171214	NM_015725.2	198	gCg/gTg	0			1			T	A/V	uc002mmr.2	protein_coding					593/936									ovary(3)|pancreas(1)	4	c.(592-594)GCG>GTG			hmmpanther:PTHR24322,hmmpanther:PTHR24322:SF259,Gene3D:3.40.50.720,PIRSF_domain:PIRSF000095,Superfamily_domains:SSF51735	retinol dehydrogenase 8 (all-trans)	Vitamin A(DB00162)			ENSP00000171214		6-May	8.24E-06			0.000116					rs754093769,COSM3403700,COSM3403701	6-May	.		ENST00000171214	Transcript			estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	ENSG00000080511	g.chr19:10131987C>T	14423			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=RDH8_HUMAN&rb=175&re=311&var=A198V	getma.org/pdb.php?prot=RDH8_HUMAN&from=175&to=311&var=A198V	getma.org/?cm=var&var=hg19,19,10131987,C,T&fts=all	A198V	--	--	1																																			0,1,1			benign(0.099)	p.A198V	NM_015725	NP_056540			0,1,1	RDH8_HUMAN	RDH8	HGNC	Q9NYR8	RDH8_HUMAN	Epithelial(33;4.24e-05)				5	842	+			UPI0000072C8A	198					SNV	RDH8,missense_variant,p.Ala218Val,ENST00000591589,;RDH8,missense_variant,p.Ala198Val,ENST00000171214,NM_015725.2;RDH8,splice_region_variant,,ENST00000587782,;RDH8,downstream_gene_variant,,ENST00000589570,;	uc002mmr.2	c.593C>T	842/1714	2	2			c.593C>T						19	SNP	c.(592-594)GCG>GTG	24	24			ovary(3)|pancreas(1)	4	Broad	retinol dehydrogenase 8 (all-trans)		Vitamin A(DB00162)	10131987		0.602	ENSG00000080511	12985	g.chr19:10131987C>T	estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity							148.435034	KEEP	29	35	-1	68	46	29	35	-1	151.058485	68	46	0.358108	1	0	0	0	0	1	0	0	0	--	--		0	T				240	GBM-32-2632-TP	p.A198V	C	AAGCTTCTGGCGCAGGTTTCT	NM_015725	NP_056540	10131987	Q9NYR8	RDH8_HUMAN	0	Epithelial(33;4.24e-05)		5	842	+	T	T			Missense_Mutation	198						
RECK	0	broad.mit.edu	GRCh37	9	36060144	36060144	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-12-0615-01	TCGA-12-0615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377966.3:c.263C>G	p.Ser88Cys	p.S88C	ENST00000377966	NM_021111.2	88	tCt/tGt	0			1			G	S/C	uc003zyv.2	protein_coding	YES	CCDS6597.1			263/2916									skin(2)|ovary(1)	3	c.(262-264)TCT>TGT			hmmpanther:PTHR13487	RECK protein precursor				ENSP00000367202		21-Apr									COSM2153530	21-Apr	.		ENST00000377966	Transcript				anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	ENSG00000122707	g.chr9:36060144C>G	11345			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=RECK_HUMAN&rb=1&re=200&var=S88C	NA	getma.org/?cm=var&var=hg19,9,36060144,C,G&fts=all	S88C	--	--	1																																		RECK_uc010mld.2_Missense_Mutation_p.S88C|RECK_uc003zyu.3_Missense_Mutation_p.S88C|RECK_uc003zyw.2_Translation_Start_Site|RECK_uc010mle.1_Intron|RECK_uc003zyx.2_RNA	1	1		possibly_damaging(0.819)	p.S88C	NM_021111	NP_066934		deleterious(0)	1	RECK_HUMAN	RECK	HGNC	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)				4	349	+			UPI0000133587	88			5 X Knot repeats.		SNV	RECK,missense_variant,p.Ser88Cys,ENST00000377966,NM_021111.2;RECK,non_coding_transcript_exon_variant,,ENST00000479053,;RECK,non_coding_transcript_exon_variant,,ENST00000475774,;	uc003zyv.2	c.263C>G	829/4888	3	3			c.263C>G						9	SNP	c.(262-264)TCT>TGT	1	1			skin(2)|ovary(1)	3	Broad	RECK protein precursor			36060144		0.299	ENSG00000122707	12989	g.chr9:36060144C>G		anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity							260.528285	KEEP	37	48	-1	74	75	37	48	-1	263.230874	74	75	0.374359	1	0	0	0	0	1	0	0	0	--	--		0	G			RECK_uc010mld.2_Missense_Mutation_p.S88C|RECK_uc003zyu.3_Missense_Mutation_p.S88C|RECK_uc003zyw.2_Translation_Start_Site|RECK_uc010mle.1_Intron|RECK_uc003zyx.2_RNA	117	GBM-12-0615-TP	p.S88C	C	ATGAATTCATCTTTGCCAGGT	NM_021111	NP_066934	36060144	O95980	RECK_HUMAN	0	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		4	349	+	G	G			Missense_Mutation	88			5 X Knot repeats.			
RECQL	5965		GRCh37	12	21643134	21643134	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000421138.2:c.393T>C		p.X131_splice	ENST00000421138		131	gaT/gaC	0																																																																																																																																																																																																																																												
RECQL5	9400	broad.mit.edu	GRCh37	17	73627684	73627684	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-2483-01	TCGA-02-2483-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317905.5:c.1294G>A	p.Asp432Asn	p.D432N	ENST00000317905	NM_004259.6	432	Gac/Aac	0	T:0		1			T	D/N	uc010dgl.2	protein_coding	YES	CCDS42380.1			1294/2976									kidney(3)	3	c.(1294-1296)GAC>AAC		Other_identified_genes_with_known_or_suspected_DNA_repair_function	hmmpanther:PTHR13710:SF81,hmmpanther:PTHR13710,TIGRFAM_domain:TIGR00614,Gene3D:1.10.10.10	RecQ protein-like 5 isoform 1			T:0.0001	ENSP00000317636		20-Sep	3.30E-05					6.14E-05			rs371987831,COSM3403218	20-Sep	.		ENST00000317905	Transcript			DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	ENSG00000108469	g.chr17:73627684C>T	9950			MODERATE		3.445	medium	getma.org/?cm=msa&ty=f&p=RECQ5_HUMAN&rb=355&re=554&var=D432N	NA	getma.org/?cm=var&var=hg19,17,73627684,C,T&fts=all	D432N	--	--	1																																		RECQL5_uc010dgk.2_Missense_Mutation_p.D405N|RECQL5_uc002jot.3_5'Flank|LOC643008_uc002jow.2_5'Flank	0,1	1		probably_damaging(0.997)	p.D432N	NM_004259	NP_004250		deleterious(0)	0,1	RECQ5_HUMAN	RECQL5	HGNC	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		Q9BW80_HUMAN,Q9BSD6_HUMAN,J3QLU0_HUMAN,J3KTQ2_HUMAN		9	1450	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		UPI0000133477	432					SNV	RECQL5,missense_variant,p.Asp432Asn,ENST00000317905,NM_004259.6;RECQL5,missense_variant,p.Asp405Asn,ENST00000423245,;RECQL5,missense_variant,p.Asp432Asn,ENST00000578201,;RECQL5,5_prime_UTR_variant,,ENST00000580707,;SMIM5,upstream_gene_variant,,ENST00000537494,;SMIM5,upstream_gene_variant,,ENST00000375215,NM_001162995.2;RECQL5,upstream_gene_variant,,ENST00000581825,;RECQL5,upstream_gene_variant,,ENST00000582548,;RECQL5,non_coding_transcript_exon_variant,,ENST00000443199,;RECQL5,non_coding_transcript_exon_variant,,ENST00000583673,;MYO15B,downstream_gene_variant,,ENST00000578382,;SMIM5,upstream_gene_variant,,ENST00000581115,;RECQL5,3_prime_UTR_variant,,ENST00000582464,;RECQL5,upstream_gene_variant,,ENST00000578865,;RECQL5,upstream_gene_variant,,ENST00000585205,;RECQL5,upstream_gene_variant,,ENST00000579265,;	uc010dgl.2	c.1294G>A	1454/3704	1	1			c.1294G>A						17	SNP	c.(1294-1296)GAC>AAC	1	1			kidney(3)	3	Broad	RecQ protein-like 5 isoform 1	Other_identified_genes_with_known_or_suspected_DNA_repair_function		73627684		0.701	ENSG00000108469	12992	g.chr17:73627684C>T	DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding							-1.481808	KEEP	3	6	-1	57	44	3	6	-1	13.315489	57	44	0.075	1	0	0	0	0	1	0	0	0	--	--		0	T			RECQL5_uc010dgk.2_Missense_Mutation_p.D405N|RECQL5_uc002jot.3_5'Flank|LOC643008_uc002jow.2_5'Flank	6	GBM-02-2483-TP	p.D432N	C	TGGCAGTGGTCGCAGCCTTTG	NM_004259	NP_004250	73627684	O94762	RECQ5_HUMAN	0	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		9	1450	-	T	T	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		Missense_Mutation	432						
RECQL5	0	broad.mit.edu	GRCh37	17	73625102	73625102	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5960-01	TCGA-19-5960-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317905.5:c.2401C>T	p.Pro801Ser	p.P801S	ENST00000317905	NM_004259.6	801	Cca/Tca	0			1			A	P/S	uc010dgl.2	protein_coding	YES	CCDS42380.1			2401/2976									kidney(3)	3	c.(2401-2403)CCA>TCA		Other_identified_genes_with_known_or_suspected_DNA_repair_function	Pfam_domain:PF06959	RecQ protein-like 5 isoform 1				ENSP00000317636		16/20									COSM3403216	16/20	.		ENST00000317905	Transcript			DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	ENSG00000108469	g.chr17:73625102G>A	9950			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=RECQ5_HUMAN&rb=625&re=829&var=P801S	NA	getma.org/?cm=var&var=hg19,17,73625102,G,A&fts=all	P801S	--	--	1																																		RECQL5_uc010dgk.2_Missense_Mutation_p.P774S|RECQL5_uc002jot.3_5'Flank	1	1		benign(0.057)	p.P801S	NM_004259	NP_004250		tolerated(0.51)	1	RECQ5_HUMAN	RECQL5	HGNC	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		Q9BW80_HUMAN,Q9BSD6_HUMAN,J3QLU0_HUMAN,J3KTQ2_HUMAN		16	2557	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		UPI0000133477	801					SNV	RECQL5,missense_variant,p.Pro801Ser,ENST00000317905,NM_004259.6;RECQL5,missense_variant,p.Pro774Ser,ENST00000423245,;RECQL5,missense_variant,p.Pro26Ser,ENST00000581825,;RECQL5,missense_variant,p.Pro141Ser,ENST00000582548,;RECQL5,downstream_gene_variant,,ENST00000578201,;SMIM5,upstream_gene_variant,,ENST00000375215,NM_001162995.2;RECQL5,downstream_gene_variant,,ENST00000580707,;RECQL5,non_coding_transcript_exon_variant,,ENST00000443199,;MYO15B,downstream_gene_variant,,ENST00000578382,;MYO15B,downstream_gene_variant,,ENST00000580414,;MYO15B,downstream_gene_variant,,ENST00000578220,;MYO15B,downstream_gene_variant,,ENST00000577948,;MYO15B,downstream_gene_variant,,ENST00000580262,;SMIM5,upstream_gene_variant,,ENST00000581115,;MYO15B,downstream_gene_variant,,ENST00000580096,;RECQL5,downstream_gene_variant,,ENST00000583673,;RECQL5,upstream_gene_variant,,ENST00000578865,;RECQL5,downstream_gene_variant,,ENST00000582464,;MYO15B,downstream_gene_variant,,ENST00000577986,;RECQL5,downstream_gene_variant,,ENST00000585205,;RECQL5,downstream_gene_variant,,ENST00000579265,;	uc010dgl.2	c.2401C>T	2561/3704	2	2			c.2401C>T						17	SNP	c.(2401-2403)CCA>TCA	37	37			kidney(3)	3	Broad	RecQ protein-like 5 isoform 1	Other_identified_genes_with_known_or_suspected_DNA_repair_function		73625102		0.647	ENSG00000108469	12992	g.chr17:73625102G>A	DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding							43.105473	KEEP	4	12	-1	26	16	4	12	-1	44.60899	26	16	0.3125	1	0	0	0	0	1	0	0	0	--	--		0	A			RECQL5_uc010dgk.2_Missense_Mutation_p.P774S|RECQL5_uc002jot.3_5'Flank	178	GBM-19-5960-TP	p.P801S	G	TACTTCTCTGGGGCCATCGGG	NM_004259	NP_004250	73625102	O94762	RECQ5_HUMAN	0	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		16	2557	-	A	A	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		Missense_Mutation	801						
RECQL5	0	broad.mit.edu	GRCh37	17	73626864	73626864	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-26-1439-01	TCGA-26-1439-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317905.5:c.1639G>C	p.Val547Leu	p.V547L	ENST00000317905	NM_004259.6	547	Gtg/Ctg	0			1			G	V/L	uc010dgl.2	protein_coding	YES	CCDS42380.1			1639/2976									kidney(3)	3	c.(1639-1641)GTG>CTG		Other_identified_genes_with_known_or_suspected_DNA_repair_function	hmmpanther:PTHR13710:SF81,hmmpanther:PTHR13710	RecQ protein-like 5 isoform 1				ENSP00000317636		20-Dec	8.34E-06							0.000195	rs761886785,COSM3403217	20-Dec	.		ENST00000317905	Transcript			DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	ENSG00000108469	g.chr17:73626864C>G	9950			MODERATE		1.825	low	getma.org/?cm=msa&ty=f&p=RECQ5_HUMAN&rb=355&re=554&var=V547L	NA	getma.org/?cm=var&var=hg19,17,73626864,C,G&fts=all	V547L	--	--	1																																		RECQL5_uc010dgk.2_Missense_Mutation_p.V520L|RECQL5_uc002jot.3_5'Flank|LOC643008_uc002jow.2_5'Flank	0,1	1		benign(0.348)	p.V547L	NM_004259	NP_004250		deleterious(0.01)	0,1	RECQ5_HUMAN	RECQL5	HGNC	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		Q9BW80_HUMAN,Q9BSD6_HUMAN,J3QLU0_HUMAN,J3KTQ2_HUMAN		12	1795	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		UPI0000133477	547					SNV	RECQL5,missense_variant,p.Val547Leu,ENST00000317905,NM_004259.6;RECQL5,missense_variant,p.Val520Leu,ENST00000423245,;RECQL5,missense_variant,p.Val36Leu,ENST00000580707,;RECQL5,downstream_gene_variant,,ENST00000578201,;SMIM5,upstream_gene_variant,,ENST00000375215,NM_001162995.2;RECQL5,upstream_gene_variant,,ENST00000581825,;RECQL5,upstream_gene_variant,,ENST00000582548,;RECQL5,non_coding_transcript_exon_variant,,ENST00000443199,;MYO15B,downstream_gene_variant,,ENST00000578382,;MYO15B,downstream_gene_variant,,ENST00000580414,;MYO15B,downstream_gene_variant,,ENST00000580262,;SMIM5,upstream_gene_variant,,ENST00000581115,;RECQL5,downstream_gene_variant,,ENST00000583673,;RECQL5,upstream_gene_variant,,ENST00000578865,;RECQL5,downstream_gene_variant,,ENST00000582464,;RECQL5,upstream_gene_variant,,ENST00000585205,;RECQL5,upstream_gene_variant,,ENST00000579265,;	uc010dgl.2	c.1639G>C	1799/3704	3	3			c.1639G>C						17	SNP	c.(1639-1641)GTG>CTG	8	8			kidney(3)	3	Broad	RecQ protein-like 5 isoform 1	Other_identified_genes_with_known_or_suspected_DNA_repair_function		73626864		0.657	ENSG00000108469	12992	g.chr17:73626864C>G	DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding							6.844068	KEEP	0	2	-1	4	7	0	2	-1	7.681083	4	7	0.2	1	0	0	0	0	1	0	0	0	--	--		0	G			RECQL5_uc010dgk.2_Missense_Mutation_p.V520L|RECQL5_uc002jot.3_5'Flank|LOC643008_uc002jow.2_5'Flank	179	GBM-26-1439-TP	p.V547L	C	CTTACCTTCACAGTCAGCCTG	NM_004259	NP_004250	73626864	O94762	RECQ5_HUMAN	0	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		12	1795	-	G	G	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		Missense_Mutation	547						
REEP2	51308	broad.mit.edu	GRCh37	5	137781275	137781275	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-02-2485-01	TCGA-02-2485-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254901.5:c.678G>A	p.Ala226=	p.A226=	ENST00000254901		226	gcG/gcA	0	A:0.0002	A:0	1	A:0		A	A	uc003lcz.2	protein_coding	YES	CCDS4205.1			678/759										0	c.(676-678)GCG>GCA			hmmpanther:PTHR12300,hmmpanther:PTHR12300:SF29,Low_complexity_(Seg):seg	receptor accessory protein 2		A:0	A:0	ENSP00000254901	A:0	8-Jul	0.000107	9.65E-05	0.000173	0.000116		6.01E-05		0.000303	rs373069993,COSM3409762	8-Jul	.		ENST00000254901	Transcript	1	A:0.0002		integral to membrane		ENSG00000132563	g.chr5:137781275G>A	17975			LOW								--	--	1																																		REEP2_uc003lda.2_Silent_p.A228A|REEP2_uc011cyt.1_Silent_p.A187A	0,1	1			p.A226A	NM_016606	NP_057690	A:0.001		0,1	REEP2_HUMAN	REEP2	HGNC	Q9BRK0	REEP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		B4DE60_HUMAN		7	800	+			UPI00001BD945	226					SNV	REEP2,synonymous_variant,p.=,ENST00000378339,NM_001271803.1,NM_016606.3;REEP2,synonymous_variant,p.=,ENST00000254901,;REEP2,synonymous_variant,p.=,ENST00000506158,;REEP2,downstream_gene_variant,,ENST00000512126,;REEP2,downstream_gene_variant,,ENST00000464751,;REEP2,non_coding_transcript_exon_variant,,ENST00000507635,;REEP2,non_coding_transcript_exon_variant,,ENST00000504163,;REEP2,downstream_gene_variant,,ENST00000510467,;REEP2,downstream_gene_variant,,ENST00000503379,;REEP2,downstream_gene_variant,,ENST00000507511,;	uc003lcz.2	c.678G>A	800/2099	2	2			c.678G>A						5	SNP	c.(676-678)GCG>GCA	48	48				0	Broad	receptor accessory protein 2			137781275		0.592	ENSG00000132563	12994	g.chr5:137781275G>A		integral to membrane								86.05699	KEEP	9	22	-1	17	20	9	22	-1	86.138497	17	20	0.461538	1	0	0	0	0	0	0	1	0	--	--		0	A			REEP2_uc003lda.2_Silent_p.A228A|REEP2_uc011cyt.1_Silent_p.A187A	7	GBM-02-2485-TP	p.A226A	G	TCAAAAAAGCGCCCAAAGCTG	NM_016606	NP_057690	137781275	Q9BRK0	REEP2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		7	800	+	A	A			Silent	226						
REEP6	0	broad.mit.edu	GRCh37	19	1496383	1496383	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-16-0846-01	TCGA-16-0846-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000233596.3:c.448G>T	p.Ala150Ser	p.A150S	ENST00000233596	NM_138393.1	150	Gcc/Tcc	0			1			T	A/S	uc002ltc.2	protein_coding	YES	CCDS12070.1			448/555										0	c.(448-450)GCC>TCC			hmmpanther:PTHR12300,hmmpanther:PTHR12300:SF30	receptor accessory protein 6				ENSP00000233596		5-Apr									COSM3748043,COSM3748044	5-Apr	.		ENST00000233596	Transcript				integral to membrane		ENSG00000115255	g.chr19:1496383G>T	30078			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=REEP6_HUMAN&rb=145&re=184&var=A150S	NA	getma.org/?cm=var&var=hg19,19,1496383,G,T&fts=all	A150S	--	--	1																																			1,1	1		benign(0.027)	p.A150S	NM_138393	NP_612402		tolerated(0.34)	1,1	REEP6_HUMAN	REEP6	HGNC	Q96HR9	REEP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)			4	552	+		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)	UPI00000702E3	150					SNV	REEP6,missense_variant,p.Ala150Ser,ENST00000233596,NM_138393.1;REEP6,missense_variant,p.Ala89Ser,ENST00000395479,;REEP6,missense_variant,p.Ala78Ser,ENST00000395484,;REEP6,downstream_gene_variant,,ENST00000591735,;	uc002ltc.2	c.448G>T	552/1375	2	2			c.448G>T						19	SNP	c.(448-450)GCC>TCC	29	29				0	Broad	receptor accessory protein 6			1496383		0.657	ENSG00000115255	12998	g.chr19:1496383G>T		integral to membrane								-6.345447	KEEP	3	4	0.428571429	41	37	3	4	0.428571429	7.177017	41	37	0.08	1	0	0	0	0	1	0	0	0	--	--		0	T				155	GBM-16-0846-TP	p.A150S	G	GCACCACGGGGCCGTAGACAG	NM_138393	NP_612402	1496383	Q96HR9	REEP6_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	552	+	T	T		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)	Missense_Mutation	150						
REG1B	5968	broad.mit.edu	GRCh37	2	79314050	79314050	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0211-01	TCGA-06-0211-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305089.3:c.71A>G	p.Glu24Gly	p.E24G	ENST00000305089	NM_006507.3	24	gAg/gGg	0			1			C	E/G	uc002sny.2	protein_coding	YES	CCDS1963.1			71/501									central_nervous_system(1)|skin(1)	2	c.(70-72)GAG>GGG			hmmpanther:PTHR22801,hmmpanther:PTHR22801:SF31	regenerating islet-derived 1 beta precursor				ENSP00000303206		6-Mar									COSM2150735	6-Mar	.		ENST00000305089	Transcript			cell proliferation	extracellular region	sugar binding	ENSG00000172023	g.chr2:79314050T>C	9952			MODERATE		2.135	medium	getma.org/?cm=msa&ty=f&p=REG1B_HUMAN&rb=1&re=52&var=E24G	getma.org/pdb.php?prot=REG1B_HUMAN&from=1&to=52&var=E24G	getma.org/?cm=var&var=hg19,2,79314050,T,C&fts=all	E24G	--	--	1																																		REG1B_uc010ffv.1_Missense_Mutation_p.E24G|REG1B_uc010ffw.2_Missense_Mutation_p.E24G	1	1		benign(0.178)	p.E24G	NM_006507	NP_006498		tolerated(0.05)	1	REG1B_HUMAN	REG1B	HGNC	P48304	REG1B_HUMAN			Q6ICS1_HUMAN		3	183	-			UPI00000012AB	24					SNV	REG1B,missense_variant,p.Glu24Gly,ENST00000305089,NM_006507.3;REG1B,upstream_gene_variant,,ENST00000454188,;REG1B,non_coding_transcript_exon_variant,,ENST00000479258,;REG1B,non_coding_transcript_exon_variant,,ENST00000476554,;REG1B,downstream_gene_variant,,ENST00000469052,;	uc002sny.2	c.71A>G	152/767	3	3			c.71A>G						2	SNP	c.(70-72)GAG>GGG	6	6			central_nervous_system(1)|skin(1)	2	Broad	regenerating islet-derived 1 beta precursor			79314050		0.488	ENSG00000172023	13000	g.chr2:79314050T>C	cell proliferation	extracellular region	sugar binding							237.149937	KEEP	51	61	-1	84	103	51	61	-1	243.579462	84	103	0.323276	1	0	0	0	0	1	0	0	0	--	--		0	C			REG1B_uc010ffv.1_Missense_Mutation_p.E24G|REG1B_uc010ffw.2_Missense_Mutation_p.E24G	48	GBM-06-0211-TP	p.E24G	T	TGTCTGGGACTCCTGGCCTGG	NM_006507	NP_006498	79314050	P48304	REG1B_HUMAN	0			3	183	-	C	C			Missense_Mutation	24						
RELB	0	broad.mit.edu	GRCh37	19	45515222	45515222	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-3915-01	TCGA-41-3915-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221452.8:c.192C>T	p.Asn64=	p.N64=	ENST00000221452	NM_006509.3	64	aaC/aaT	0			1			T	N	uc002paj.1	protein_coding	YES	CCDS46110.1			192/1740									ovary(1)	1	c.(190-192)AAC>AAT				reticuloendotheliosis viral oncogene homolog B				ENSP00000221452		12-Apr									COSM3103659	12-Apr	.		ENST00000221452	Transcript				nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	ENSG00000104856	g.chr19:45515222C>T	9956			LOW								--	--	1																																			1	1			p.N64N	NM_006509	NP_006500			1	RELB_HUMAN	RELB	HGNC	Q01201	RELB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00986)			5	318	+		Ovarian(192;0.0728)|all_neural(266;0.112)	UPI00000012B7	64			Leucine-zipper.		SNV	RELB,synonymous_variant,p.=,ENST00000221452,NM_006509.3;RELB,synonymous_variant,p.=,ENST00000540120,;RELB,synonymous_variant,p.=,ENST00000505236,;RELB,3_prime_UTR_variant,,ENST00000509480,;	uc002paj.1	c.192C>T	342/2294	1	1			c.192C>T						19	SNP	c.(190-192)AAC>AAT	1	1			ovary(1)	1	Broad	reticuloendotheliosis viral oncogene homolog B			45515222		0.577	ENSG00000104856	13006	g.chr19:45515222C>T		nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity							37.739308	KEEP	13	11	-1	14	15	13	11	-1	38.422071	14	15	0.358974	1	0	0	0	0	0	0	1	0	--	--		0	T				256	GBM-41-3915-TP	p.N64N	C	TCAAGGAGAACGGCTTCGGCC	NM_006509	NP_006500	45515222	Q01201	RELB_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00986)	5	318	+	T	T		Ovarian(192;0.0728)|all_neural(266;0.112)	Silent	64			Leucine-zipper.			
RELN	5649	broad.mit.edu	GRCh37	7	103130205	103130205	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0124-01	TCGA-06-0124-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428762.1:c.9747C>T	p.Cys3249=	p.C3249=	ENST00000428762	NM_005045.3	3249	tgC/tgT	0			1			A	C	uc003vca.2	protein_coding	YES	CCDS47680.1			9747/10383									ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19	c.(9745-9747)TGC>TGT			Gene3D:2gy5A03,PROSITE_patterns:PS00022,PROSITE_profiles:PS50026,hmmpanther:PTHR11841,SMART_domains:SM00181	reelin isoform a				ENSP00000392423		60/65	3.29E-05	9.84E-05				4.58E-05			rs749356183,COSM3411427	60/65	.		ENST00000428762	Transcript	1		axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	ENSG00000189056	g.chr7:103130205G>A	9957			LOW								--	--	1																																		RELN_uc010liz.2_Silent_p.C3249C	0,1	1			p.C3249C	NM_005045	NP_005036			0,1	RELN_HUMAN	RELN	HGNC	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	Q75MM8_HUMAN		60	9907	-			UPI00001678BC	3249			EGF-like 8.		SNV	RELN,synonymous_variant,p.=,ENST00000428762,NM_005045.3;RELN,synonymous_variant,p.=,ENST00000424685,;RELN,synonymous_variant,p.=,ENST00000343529,NM_173054.2;CTB-107G13.1,intron_variant,,ENST00000422488,;RELN,upstream_gene_variant,,ENST00000473945,;	uc003vca.2	c.9747C>T	9907/11571	1	1			c.9747C>T						7	SNP	c.(9745-9747)TGC>TGT	50	50			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19	Broad	reelin isoform a			103130205		0.408	ENSG00000189056	13009	g.chr7:103130205G>A	axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	NSCLC(146;835 1944 15585 22231 52158)			NSCLC(146;835 1944 15585 22231 52158)			21.692298	KEEP	6	6	-1	30	22	6	6	-1	26.918124	30	22	0.189655	1	0	0	0	0	0	0	1	0	--	--		0	A			RELN_uc010liz.2_Silent_p.C3249C	11	GBM-06-0124-TP	p.C3249C	G	AGCTCTCGTCGCAGATGCAGA	NM_005045	NP_005036	103130205	P78509	RELN_HUMAN	0		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	60	9907	-	A	A			Silent	3249			EGF-like 8.			
RELN	5649	broad.mit.edu	GRCh37	7	103338350	103338350	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0152-01	TCGA-06-0152-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428762.1:c.1093G>A	p.Asp365Asn	p.D365N	ENST00000428762	NM_005045.3	365	Gac/Aac	0			1			T	D/N	uc003vca.2	protein_coding	YES	CCDS47680.1			1093/10383									ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19	c.(1093-1095)GAC>AAC			hmmpanther:PTHR11841	reelin isoform a				ENSP00000392423		Oct-65									COSM3411434	Oct-65	.		ENST00000428762	Transcript	1		axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	ENSG00000189056	g.chr7:103338350C>T	9957			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=RELN_HUMAN&rb=172&re=371&var=D365N	getma.org/pdb.php?prot=RELN_HUMAN&from=172&to=371&var=D365N	getma.org/?cm=var&var=hg19,7,103338350,C,T&fts=all	D365N	--	--	1																																		RELN_uc010liz.2_Missense_Mutation_p.D365N	1	1		probably_damaging(0.99)	p.D365N	NM_005045	NP_005036		deleterious(0.01)	1	RELN_HUMAN	RELN	HGNC	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	Q75MM8_HUMAN		10	1253	-			UPI00001678BC	365					SNV	RELN,missense_variant,p.Asp365Asn,ENST00000428762,NM_005045.3;RELN,missense_variant,p.Asp365Asn,ENST00000424685,;RELN,missense_variant,p.Asp365Asn,ENST00000343529,NM_173054.2;	uc003vca.2	c.1093G>A	1253/11571	2	2			c.1093G>A						7	SNP	c.(1093-1095)GAC>AAC	47	47			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19	Broad	reelin isoform a			103338350		0.423	ENSG00000189056	13009	g.chr7:103338350C>T	axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	NSCLC(146;835 1944 15585 22231 52158)			NSCLC(146;835 1944 15585 22231 52158)			89.710447	KEEP	20	26	-1	112	92	20	26	-1	110.621148	112	92	0.185841	1	0	0	0	0	1	0	0	0	--	--		0	T			RELN_uc010liz.2_Missense_Mutation_p.D365N	25	GBM-06-0152-TP	p.D365N	C	TCCACTGGGTCGAGACTATCT	NM_005045	NP_005036	103338350	P78509	RELN_HUMAN	0		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	10	1253	-	T	T			Missense_Mutation	365						
RELN	5649	broad.mit.edu	GRCh37	7	103270455	103270455	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0169-01	TCGA-06-0169-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428762.1:c.2634G>A	p.Glu878=	p.E878=	ENST00000428762	NM_005045.3	878	gaG/gaA	0			1			T	E	uc003vca.2	protein_coding	YES	CCDS47680.1			2634/10383									ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19	c.(2632-2634)GAG>GAA			hmmpanther:PTHR11841	reelin isoform a				ENSP00000392423		20/65									COSM3411432	20/65	.		ENST00000428762	Transcript	1		axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	ENSG00000189056	g.chr7:103270455C>T	9957			LOW								--	--	1																																		RELN_uc010liz.2_Silent_p.E878E	1	1			p.E878E	NM_005045	NP_005036			1	RELN_HUMAN	RELN	HGNC	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	Q75MM8_HUMAN		20	2794	-			UPI00001678BC	878					SNV	RELN,synonymous_variant,p.=,ENST00000424685,;RELN,synonymous_variant,p.=,ENST00000428762,NM_005045.3;RELN,synonymous_variant,p.=,ENST00000343529,NM_173054.2;RELN,non_coding_transcript_exon_variant,,ENST00000473457,;	uc003vca.2	c.2634G>A	2794/11571	1	1			c.2634G>A						7	SNP	c.(2632-2634)GAG>GAA	1	1			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19	Broad	reelin isoform a			103270455		0.408	ENSG00000189056	13009	g.chr7:103270455C>T	axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	NSCLC(146;835 1944 15585 22231 52158)			NSCLC(146;835 1944 15585 22231 52158)			63.680945	KEEP	19	19	-1	101	113	19	19	-1	93.874927	101	113	0.140496	1	0	0	0	0	0	0	1	0	--	--		0	T			RELN_uc010liz.2_Silent_p.E878E	34	GBM-06-0169-TP	p.E878E	C	ACTGAGTGACCTCCACAAGAT	NM_005045	NP_005036	103270455	P78509	RELN_HUMAN	0		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	20	2794	-	T	T			Silent	878						
RELN	5649	broad.mit.edu	GRCh37	7	103417022	103417022	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0213-01	TCGA-06-0213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428762.1:c.526C>T	p.Gln176Ter	p.Q176*	ENST00000428762	NM_005045.3	176	Cag/Tag	0			1			A	Q/*	uc003vca.2	protein_coding	YES	CCDS47680.1			526/10383									ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19	c.(526-528)CAG>TAG			PROSITE_profiles:PS51019,hmmpanther:PTHR11841	reelin isoform a				ENSP00000392423		Apr-65									COSM2150853	Apr-65	.		ENST00000428762	Transcript	1		axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	ENSG00000189056	g.chr7:103417022G>A	9957			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,103417022,G,A&fts=all	Q176*	--	--	1																																		RELN_uc010liz.2_Nonsense_Mutation_p.Q176*	1	1			p.Q176*	NM_005045	NP_005036			1	RELN_HUMAN	RELN	HGNC	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	Q75MM8_HUMAN		4	686	-			UPI00001678BC	176			Reelin.		SNV	RELN,stop_gained,p.Gln176Ter,ENST00000428762,NM_005045.3;RELN,stop_gained,p.Gln176Ter,ENST00000424685,;RELN,stop_gained,p.Gln176Ter,ENST00000343529,NM_173054.2;	uc003vca.2	c.526C>T	686/11571	5	2			c.526C>T						7	SNP	c.(526-528)CAG>TAG	22	22			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19	Broad	reelin isoform a			103417022		0.403	ENSG00000189056	13009	g.chr7:103417022G>A	axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	NSCLC(146;835 1944 15585 22231 52158)			NSCLC(146;835 1944 15585 22231 52158)			89.695925	KEEP	31	24	-1	101	92	31	24	-1	105.693045	101	92	0.209756	1	0	0	0	0	0	1	0	0	--	--		0	A			RELN_uc010liz.2_Nonsense_Mutation_p.Q176*	49	GBM-06-0213-TP	p.Q176*	G	TCACACAACTGCTGGGCTAAA	NM_005045	NP_005036	103417022	P78509	RELN_HUMAN	0		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	4	686	-	A	A			Nonsense_Mutation	176			Reelin.			
RELN	5649	broad.mit.edu	GRCh37	7	103281043	103281043	+	synonymous_variant	Silent	SNP	C	C	T	rs146749232		TCGA-06-0241-01	TCGA-06-0241-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428762.1:c.2016G>A	p.Pro672=	p.P672=	ENST00000428762	NM_005045.3	672	ccG/ccA	0	T:0.0002	T:0	1	T:0		T	P	uc003vca.2	protein_coding	YES	CCDS47680.1			2016/10383						uncertain_significance			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19	c.(2014-2016)CCG>CCA			PROSITE_profiles:PS50026,hmmpanther:PTHR11841	reelin isoform a		T:0.001	T:0	ENSP00000392423	T:0	17/65	6.59E-05	9.67E-05	0.000436	0.000118		1.51E-05			rs146749232,COSM2151155	17/65	common_variant		ENST00000428762	Transcript	1	T:0.0002	axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	ENSG00000189056	g.chr7:103281043C>T	9957			LOW								--	--	1																																		RELN_uc010liz.2_Silent_p.P672P	1,1	1			p.P672P	NM_005045	NP_005036	T:0		0,1	RELN_HUMAN	RELN	HGNC	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	Q75MM8_HUMAN		17	2176	-			UPI00001678BC	672			EGF-like 1.		SNV	RELN,synonymous_variant,p.=,ENST00000424685,;RELN,synonymous_variant,p.=,ENST00000428762,NM_005045.3;RELN,synonymous_variant,p.=,ENST00000343529,NM_173054.2;	uc003vca.2	c.2016G>A	2176/11571	1	1			c.2016G>A						7	SNP	c.(2014-2016)CCG>CCA	4	4			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19	Broad	reelin isoform a			103281043		0.368	ENSG00000189056	13009	g.chr7:103281043C>T	axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	NSCLC(146;835 1944 15585 22231 52158)			NSCLC(146;835 1944 15585 22231 52158)			87.406883	KEEP	22	16	-1	57	43	22	16	-1	91.850727	57	43	0.293103	1	0	0	0	0	0	0	1	0	--	--		0	T			RELN_uc010liz.2_Silent_p.P672P	57	GBM-06-0241-TP	p.P672P	C	TGAGACATGACGGGCCAATAT	NM_005045	NP_005036	103281043	P78509	RELN_HUMAN	0		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	17	2176	-	T	T			Silent	672			EGF-like 1.			
RELN	5649	broad.mit.edu	GRCh37	7	103137114	103137114	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428762.1:c.9052C>T	p.Arg3018Ter	p.R3018*	ENST00000428762	NM_005045.3	3018	Cga/Tga	0			1			A	R/*	uc003vca.2	protein_coding	YES	CCDS47680.1			9052/10383									ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19	c.(9052-9054)CGA>TGA			hmmpanther:PTHR11841,Superfamily_domains:SSF50939	reelin isoform a				ENSP00000392423		56/65									COSM1699118	56/65	.		ENST00000428762	Transcript	1		axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	ENSG00000189056	g.chr7:103137114G>A	9957			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,103137114,G,A&fts=all	R3018*	--	--	1																																		RELN_uc010liz.2_Nonsense_Mutation_p.R3018*	1	1			p.R3018*	NM_005045	NP_005036			1	RELN_HUMAN	RELN	HGNC	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	Q75MM8_HUMAN		56	9212	-			UPI00001678BC	3018					SNV	RELN,stop_gained,p.Arg3018Ter,ENST00000428762,NM_005045.3;RELN,stop_gained,p.Arg3018Ter,ENST00000424685,;RELN,stop_gained,p.Arg3018Ter,ENST00000343529,NM_173054.2;CTB-107G13.1,intron_variant,,ENST00000422488,;	uc003vca.2	c.9052C>T	9212/11571	5	2			c.9052C>T						7	SNP	c.(9052-9054)CGA>TGA	45	45			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19	Broad	reelin isoform a			103137114		0.478	ENSG00000189056	13009	g.chr7:103137114G>A	axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	NSCLC(146;835 1944 15585 22231 52158)			NSCLC(146;835 1944 15585 22231 52158)			94.173999	KEEP	20	22	-1	83	77	20	22	-1	108.140139	83	77	0.216931	1	0	0	0	0	0	1	0	0	--	--		0	A			RELN_uc010liz.2_Nonsense_Mutation_p.R3018*	58	GBM-06-0644-TP	p.R3018*	G	CAGCGAAGTCGAGTTGTGTTG	NM_005045	NP_005036	103137114	P78509	RELN_HUMAN	0		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	56	9212	-	A	A			Nonsense_Mutation	3018						
RELN	5649	broad.mit.edu	GRCh37	7	103191709	103191709	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01	TCGA-06-0646-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428762.1:c.6107C>T	p.Ala2036Val	p.A2036V	ENST00000428762	NM_005045.3	2036	gCg/gTg	0	A:0		1			A	A/V	uc003vca.2	protein_coding	YES	CCDS47680.1			6107/10383									ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19	c.(6106-6108)GCG>GTG			Gene3D:2.130.10.140,hmmpanther:PTHR11841,Superfamily_domains:SSF50939	reelin isoform a			A:0.0001	ENSP00000392423		41/65	8.24E-06					1.52E-05			rs368438329,COSM2151301	41/65	.		ENST00000428762	Transcript	1		axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	ENSG00000189056	g.chr7:103191709G>A	9957			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=RELN_HUMAN&rb=1972&re=2171&var=A2036V	getma.org/pdb.php?prot=RELN_HUMAN&from=1972&to=2171&var=A2036V	getma.org/?cm=var&var=hg19,7,103191709,G,A&fts=all	A2036V	--	--	1																																		RELN_uc010liz.2_Missense_Mutation_p.A2036V	0,1	1		benign(0.152)	p.A2036V	NM_005045	NP_005036		tolerated(0.25)	0,1	RELN_HUMAN	RELN	HGNC	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	Q75MM8_HUMAN		41	6267	-			UPI00001678BC	2036					SNV	RELN,missense_variant,p.Ala2036Val,ENST00000424685,;RELN,missense_variant,p.Ala2036Val,ENST00000428762,NM_005045.3;RELN,missense_variant,p.Ala2036Val,ENST00000343529,NM_173054.2;	uc003vca.2	c.6107C>T	6267/11571	1	1			c.6107C>T						7	SNP	c.(6106-6108)GCG>GTG	54	54			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19	Broad	reelin isoform a			103191709		0.502	ENSG00000189056	13009	g.chr7:103191709G>A	axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	NSCLC(146;835 1944 15585 22231 52158)			NSCLC(146;835 1944 15585 22231 52158)			50.265666	KEEP	11	12	-1	26	32	11	12	-1	53.153905	26	32	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	A			RELN_uc010liz.2_Missense_Mutation_p.A2036V	60	GBM-06-0646-TP	p.A2036V	G	CACTGGATCCGCGGATGAGCT	NM_005045	NP_005036	103191709	P78509	RELN_HUMAN	0		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	41	6267	-	A	A			Missense_Mutation	2036						
RELN	0	broad.mit.edu	GRCh37	7	103205876	103205876	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-5959-01	TCGA-19-5959-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428762.1:c.5059T>C	p.Ser1687Pro	p.S1687P	ENST00000428762	NM_005045.3	1687	Tct/Cct	0			1			G	S/P	uc003vca.2	protein_coding	YES	CCDS47680.1			5059/10383									ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19	c.(5059-5061)TCT>CCT			hmmpanther:PTHR11841,Superfamily_domains:SSF50939	reelin isoform a				ENSP00000392423		34/65									COSM3411429	34/65	.		ENST00000428762	Transcript	1		axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	ENSG00000189056	g.chr7:103205876A>G	9957			MODERATE		2.705	medium	getma.org/?cm=msa&ty=f&p=RELN_HUMAN&rb=1572&re=1771&var=S1687P	getma.org/pdb.php?prot=RELN_HUMAN&from=1572&to=1771&var=S1687P	getma.org/?cm=var&var=hg19,7,103205876,A,G&fts=all	S1687P	--	--	1																																		RELN_uc010liz.2_Missense_Mutation_p.S1687P	1	1		probably_damaging(0.995)	p.S1687P	NM_005045	NP_005036		deleterious(0)	1	RELN_HUMAN	RELN	HGNC	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	Q75MM8_HUMAN		34	5219	-			UPI00001678BC	1687			BNR 7.		SNV	RELN,missense_variant,p.Ser1687Pro,ENST00000428762,NM_005045.3;RELN,missense_variant,p.Ser1687Pro,ENST00000424685,;RELN,missense_variant,p.Ser1687Pro,ENST00000343529,NM_173054.2;	uc003vca.2	c.5059T>C	5219/11571	4	4			c.5059T>C						7	SNP	c.(5059-5061)TCT>CCT	32	32			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19	Broad	reelin isoform a			103205876		0.473	ENSG00000189056	13009	g.chr7:103205876A>G	axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	NSCLC(146;835 1944 15585 22231 52158)			NSCLC(146;835 1944 15585 22231 52158)			41.395903	KEEP	10	3	-1	11	8	10	3	-1	41.583873	11	8	0.413793	1	0	0	0	0	1	0	0	0	--	--		0	G			RELN_uc010liz.2_Missense_Mutation_p.S1687P	177	GBM-19-5959-TP	p.S1687P	A	TTGTTCAGAGAATACTGGAGC	NM_005045	NP_005036	103205876	P78509	RELN_HUMAN	0		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	34	5219	-	G	G			Missense_Mutation	1687			BNR 7.			
RELN	0	broad.mit.edu	GRCh37	7	103338351	103338351	+	synonymous_variant	Silent	SNP	G	G	A	rs142192165		TCGA-19-5959-01	TCGA-19-5959-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428762.1:c.1092C>T	p.Leu364=	p.L364=	ENST00000428762	NM_005045.3	364	ctC/ctT	0	A:0		1			A	L	uc003vca.2	protein_coding	YES	CCDS47680.1			1092/10383									ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19	c.(1090-1092)CTC>CTT			hmmpanther:PTHR11841	reelin isoform a			A:0.0001	ENSP00000392423		Oct-65	1.65E-05		8.75E-05			1.50E-05			rs142192165,COSM3411435	Oct-65	.		ENST00000428762	Transcript	1		axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	ENSG00000189056	g.chr7:103338351G>A	9957			LOW								--	--	1																																		RELN_uc010liz.2_Silent_p.L364L	0,1	1			p.L364L	NM_005045	NP_005036			0,1	RELN_HUMAN	RELN	HGNC	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	Q75MM8_HUMAN		10	1252	-			UPI00001678BC	364					SNV	RELN,synonymous_variant,p.=,ENST00000428762,NM_005045.3;RELN,synonymous_variant,p.=,ENST00000424685,;RELN,synonymous_variant,p.=,ENST00000343529,NM_173054.2;	uc003vca.2	c.1092C>T	1252/11571	2	2			c.1092C>T						7	SNP	c.(1090-1092)CTC>CTT	41	41			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19	Broad	reelin isoform a			103338351		0.418	ENSG00000189056	13009	g.chr7:103338351G>A	axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	NSCLC(146;835 1944 15585 22231 52158)			NSCLC(146;835 1944 15585 22231 52158)			107.290783	KEEP	18	25	-1	37	63	18	25	-1	112.672283	37	63	0.288889	1	0	0	0	0	0	0	1	0	--	--		0	A			RELN_uc010liz.2_Silent_p.L364L	177	GBM-19-5959-TP	p.L364L	G	CCACTGGGTCGAGACTATCTT	NM_005045	NP_005036	103338351	P78509	RELN_HUMAN	0		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	10	1252	-	A	A			Silent	364						
RELN	0	broad.mit.edu	GRCh37	7	103389896	103389896	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-26-5136-01	TCGA-26-5136-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428762.1:c.633A>G	p.Gln211=	p.Q211=	ENST00000428762	NM_005045.3	211	caA/caG	0			1			C	Q	uc003vca.2	protein_coding	YES	CCDS47680.1			633/10383									ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19	c.(631-633)CAA>CAG			hmmpanther:PTHR11841	reelin isoform a				ENSP00000392423		Jun-65									COSM3411438	Jun-65	.		ENST00000428762	Transcript	1		axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	ENSG00000189056	g.chr7:103389896T>C	9957			LOW								--	--	1																																		RELN_uc010liz.2_Silent_p.Q211Q	1	1			p.Q211Q	NM_005045	NP_005036			1	RELN_HUMAN	RELN	HGNC	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	Q75MM8_HUMAN		6	793	-			UPI00001678BC	211					SNV	RELN,synonymous_variant,p.=,ENST00000424685,;RELN,synonymous_variant,p.=,ENST00000428762,NM_005045.3;RELN,synonymous_variant,p.=,ENST00000343529,NM_173054.2;	uc003vca.2	c.633A>G	793/11571	4	4			c.633A>G						7	SNP	c.(631-633)CAA>CAG	46	46			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19	Broad	reelin isoform a			103389896		0.353	ENSG00000189056	13009	g.chr7:103389896T>C	axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	NSCLC(146;835 1944 15585 22231 52158)			NSCLC(146;835 1944 15585 22231 52158)			-76.164088	KEEP	3	4	-1	176	226	3	4	-1	13.942379	176	226	0.017493	1	0	0	0	0	0	0	1	0	--	--		0	C			RELN_uc010liz.2_Silent_p.Q211Q	185	GBM-26-5136-TP	p.Q211Q	T	TTAATTGCAGTTGGTGGTAGG	NM_005045	NP_005036	103389896	P78509	RELN_HUMAN	0		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	6	793	-	C	C			Silent	211						
RELN	0	broad.mit.edu	GRCh37	7	103368566	103368566	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1837-01	TCGA-27-1837-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428762.1:c.745C>T	p.Arg249Ter	p.R249*	ENST00000428762	NM_005045.3	249	Cga/Tga	0			1			A	R/*	uc003vca.2	protein_coding	YES	CCDS47680.1			745/10383									ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19	c.(745-747)CGA>TGA			hmmpanther:PTHR11841	reelin isoform a				ENSP00000392423		Jul-65									COSM1446997	Jul-65	.		ENST00000428762	Transcript	1		axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	ENSG00000189056	g.chr7:103368566G>A	9957			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,103368566,G,A&fts=all	R249*	--	--	1																																		RELN_uc010liz.2_Nonsense_Mutation_p.R249*	1	1			p.R249*	NM_005045	NP_005036			1	RELN_HUMAN	RELN	HGNC	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	Q75MM8_HUMAN		7	905	-			UPI00001678BC	249					SNV	RELN,stop_gained,p.Arg249Ter,ENST00000428762,NM_005045.3;RELN,stop_gained,p.Arg249Ter,ENST00000424685,;RELN,stop_gained,p.Arg249Ter,ENST00000343529,NM_173054.2;	uc003vca.2	c.745C>T	905/11571	5	1			c.745C>T						7	SNP	c.(745-747)CGA>TGA	64	64			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19	Broad	reelin isoform a			103368566		0.408	ENSG00000189056	13009	g.chr7:103368566G>A	axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	NSCLC(146;835 1944 15585 22231 52158)			NSCLC(146;835 1944 15585 22231 52158)			97.229465	KEEP	17	31	-1	65	59	17	31	-1	104.20825	65	59	0.278481	1	0	0	0	0	0	1	0	0	--	--		0	A			RELN_uc010liz.2_Nonsense_Mutation_p.R249*	196	GBM-27-1837-TP	p.R249*	G	ACCAGTTCTCGTGGGCCATAT	NM_005045	NP_005036	103368566	P78509	RELN_HUMAN	0		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	7	905	-	A	A			Nonsense_Mutation	249						
RELN	0	broad.mit.edu	GRCh37	7	103368622	103368622	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-27-1838-01	TCGA-27-1838-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428762.1:c.689A>G	p.Gln230Arg	p.Q230R	ENST00000428762	NM_005045.3	230	cAg/cGg	0			1			C	Q/R	uc003vca.2	protein_coding	YES	CCDS47680.1			689/10383									ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19	c.(688-690)CAG>CGG			hmmpanther:PTHR11841	reelin isoform a				ENSP00000392423		Jul-65									COSM3411437	Jul-65	.		ENST00000428762	Transcript	1		axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	ENSG00000189056	g.chr7:103368622T>C	9957			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=RELN_HUMAN&rb=172&re=371&var=Q230R	getma.org/pdb.php?prot=RELN_HUMAN&from=172&to=371&var=Q230R	getma.org/?cm=var&var=hg19,7,103368622,T,C&fts=all	Q230R	--	--	1																																		RELN_uc010liz.2_Missense_Mutation_p.Q230R	1	1		benign(0.011)	p.Q230R	NM_005045	NP_005036		tolerated(0.18)	1	RELN_HUMAN	RELN	HGNC	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	Q75MM8_HUMAN		7	849	-			UPI00001678BC	230					SNV	RELN,missense_variant,p.Gln230Arg,ENST00000428762,NM_005045.3;RELN,missense_variant,p.Gln230Arg,ENST00000424685,;RELN,missense_variant,p.Gln230Arg,ENST00000343529,NM_173054.2;	uc003vca.2	c.689A>G	849/11571	3	3			c.689A>G						7	SNP	c.(688-690)CAG>CGG	3	3			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19	Broad	reelin isoform a			103368622		0.458	ENSG00000189056	13009	g.chr7:103368622T>C	axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	NSCLC(146;835 1944 15585 22231 52158)			NSCLC(146;835 1944 15585 22231 52158)			123.426082	KEEP	25	38	-1	119	119	25	38	-1	144.797868	119	119	0.203065	1	0	0	0	0	1	0	0	0	--	--		0	C			RELN_uc010liz.2_Missense_Mutation_p.Q230R	197	GBM-27-1838-TP	p.Q230R	T	CGCGCCACACTGTTCTCCAGT	NM_005045	NP_005036	103368622	P78509	RELN_HUMAN	0		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	7	849	-	C	C			Missense_Mutation	230						
RELN	0	broad.mit.edu	GRCh37	7	103293088	103293088	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-5219-01	TCGA-28-5219-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428762.1:c.1673T>C	p.Phe558Ser	p.F558S	ENST00000428762	NM_005045.3	558	tTc/tCc	0			1			G	F/S	uc003vca.2	protein_coding	YES	CCDS47680.1			1673/10383									ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19	c.(1672-1674)TTC>TCC			hmmpanther:PTHR11841	reelin isoform a				ENSP00000392423		14/65									COSM3411433	14/65	.		ENST00000428762	Transcript	1		axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	ENSG00000189056	g.chr7:103293088A>G	9957			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=RELN_HUMAN&rb=372&re=571&var=F558S	NA	getma.org/?cm=var&var=hg19,7,103293088,A,G&fts=all	F558S	--	--	1																																		RELN_uc010liz.2_Missense_Mutation_p.F558S	1	1		possibly_damaging(0.556)	p.F558S	NM_005045	NP_005036		deleterious(0.01)	1	RELN_HUMAN	RELN	HGNC	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	Q75MM8_HUMAN		14	1833	-			UPI00001678BC	558					SNV	RELN,missense_variant,p.Phe558Ser,ENST00000424685,;RELN,missense_variant,p.Phe558Ser,ENST00000428762,NM_005045.3;RELN,missense_variant,p.Phe558Ser,ENST00000343529,NM_173054.2;	uc003vca.2	c.1673T>C	1833/11571	3	3			c.1673T>C						7	SNP	c.(1672-1674)TTC>TCC	7	7			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19	Broad	reelin isoform a			103293088		0.448	ENSG00000189056	13009	g.chr7:103293088A>G	axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	NSCLC(146;835 1944 15585 22231 52158)			NSCLC(146;835 1944 15585 22231 52158)			-91.778279	KEEP	3	5	-1	218	238	3	5	-1	18.588026	218	238	0.018868	1	0	0	0	0	1	0	0	0	--	--		0	G			RELN_uc010liz.2_Missense_Mutation_p.F558S	225	GBM-28-5219-TP	p.F558S	A	CAAGACATGGAAAAAGTCTAC	NM_005045	NP_005036	103293088	P78509	RELN_HUMAN	0		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	14	1833	-	G	G			Missense_Mutation	558						
RELN	0	broad.mit.edu	GRCh37	7	103191670	103191670	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5220-01	TCGA-28-5220-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428762.1:c.6146C>T	p.Ala2049Val	p.A2049V	ENST00000428762	NM_005045.3	2049	gCg/gTg	0	A:0.0002	A:0.0008	1	A:0		A	A/V	uc003vca.2	protein_coding	YES	CCDS47680.1			6146/10383									ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19	c.(6145-6147)GCG>GTG			Gene3D:2.130.10.140,hmmpanther:PTHR11841,Superfamily_domains:SSF50939	reelin isoform a		A:0	A:0.0001	ENSP00000392423	A:0	41/65	9.06E-05	0.000387	8.68E-05			7.52E-05	0.00113		rs374232523,COSM270021	41/65	.		ENST00000428762	Transcript	1	A:0.0002	axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	ENSG00000189056	g.chr7:103191670G>A	9957			MODERATE		0.57	neutral	getma.org/?cm=msa&ty=f&p=RELN_HUMAN&rb=1972&re=2171&var=A2049V	getma.org/pdb.php?prot=RELN_HUMAN&from=1972&to=2171&var=A2049V	getma.org/?cm=var&var=hg19,7,103191670,G,A&fts=all	A2049V	--	--	1																																		RELN_uc010liz.2_Missense_Mutation_p.A2049V	0,1	1		probably_damaging(0.98)	p.A2049V	NM_005045	NP_005036	A:0	tolerated(0.1)	0,1	RELN_HUMAN	RELN	HGNC	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	Q75MM8_HUMAN		41	6306	-			UPI00001678BC	2049			BNR 9.		SNV	RELN,missense_variant,p.Ala2049Val,ENST00000428762,NM_005045.3;RELN,missense_variant,p.Ala2049Val,ENST00000424685,;RELN,missense_variant,p.Ala2049Val,ENST00000343529,NM_173054.2;	uc003vca.2	c.6146C>T	6306/11571	2	2			c.6146C>T						7	SNP	c.(6145-6147)GCG>GTG	45	45			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19	Broad	reelin isoform a			103191670		0.547	ENSG00000189056	13009	g.chr7:103191670G>A	axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	NSCLC(146;835 1944 15585 22231 52158)			NSCLC(146;835 1944 15585 22231 52158)			55.929111	KEEP	11	13	-1	21	19	11	13	-1	56.973057	21	19	0.360656	1	0	0	0	0	1	0	0	0	--	--		0	A			RELN_uc010liz.2_Missense_Mutation_p.A2049V	226	GBM-28-5220-TP	p.A2049V	G	GTGCCAGGTCGCCCCGAAGTC	NM_005045	NP_005036	103191670	P78509	RELN_HUMAN	0		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	41	6306	-	A	A			Missense_Mutation	2049			BNR 9.			
RELN	0	broad.mit.edu	GRCh37	7	103234169	103234169	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-81-5910-01	TCGA-81-5910-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428762.1:c.3872G>A	p.Arg1291Gln	p.R1291Q	ENST00000428762	NM_005045.3	1291	cGa/cAa	0			1			T	R/Q	uc003vca.2	protein_coding	YES	CCDS47680.1			3872/10383									ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19	c.(3871-3873)CGA>CAA			hmmpanther:PTHR11841	reelin isoform a				ENSP00000392423		27/65	8.24E-06							6.06E-05	rs774998117,COSM3411431	27/65	.		ENST00000428762	Transcript	1		axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	ENSG00000189056	g.chr7:103234169C>T	9957			MODERATE		1.295	low	getma.org/?cm=msa&ty=f&p=RELN_HUMAN&rb=1172&re=1371&var=R1291Q	getma.org/pdb.php?prot=RELN_HUMAN&from=1172&to=1371&var=R1291Q	getma.org/?cm=var&var=hg19,7,103234169,C,T&fts=all	R1291Q	--	--	1																																		RELN_uc010liz.2_Missense_Mutation_p.R1291Q	0,1	1		possibly_damaging(0.881)	p.R1291Q	NM_005045	NP_005036		tolerated(0.08)	0,1	RELN_HUMAN	RELN	HGNC	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	Q75MM8_HUMAN		27	4032	-			UPI00001678BC	1291					SNV	RELN,missense_variant,p.Arg1291Gln,ENST00000428762,NM_005045.3;RELN,missense_variant,p.Arg1291Gln,ENST00000424685,;RELN,missense_variant,p.Arg1291Gln,ENST00000343529,NM_173054.2;	uc003vca.2	c.3872G>A	4032/11571	2	2			c.3872G>A						7	SNP	c.(3871-3873)CGA>CAA	47	47			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19	Broad	reelin isoform a			103234169		0.393	ENSG00000189056	13009	g.chr7:103234169C>T	axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	NSCLC(146;835 1944 15585 22231 52158)			NSCLC(146;835 1944 15585 22231 52158)			89.984706	KEEP	20	23	-1	75	81	20	23	-1	102.867021	75	81	0.215116	1	0	0	0	0	1	0	0	0	--	--		0	T			RELN_uc010liz.2_Missense_Mutation_p.R1291Q	289	GBM-81-5910-TP	p.R1291Q	C	GGTCAAATCTCGAGTTACTGC	NM_005045	NP_005036	103234169	P78509	RELN_HUMAN	0		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	27	4032	-	T	T			Missense_Mutation	1291						
RELN	5649		GRCh37	7	103159906	103159906	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000428762.1:c.7726C>A	p.Gln2576Lys	p.Q2576K	ENST00000428762	NM_005045.3	2576	Caa/Aaa	0																																																																																																																																																																																																																																												
RELN	5649		GRCh37	7	103338368	103338368	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000428762.1:c.1075G>A	p.Val359Ile	p.V359I	ENST00000428762	NM_005045.3	359	Gtt/Att	0																																																																																																																																																																																																																																												
RELT	0	broad.mit.edu	GRCh37	11	73102204	73102204	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000064780.2:c.303G>C	p.Trp101Cys	p.W101C	ENST00000064780	NM_152222.1	101	tgG/tgC	0			1			C	W/C	uc001otv.2	protein_coding	YES	CCDS8222.1			303/1293									upper_aerodigestive_tract(1)	1	c.(301-303)TGG>TGC			hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF37	RELT tumor necrosis factor receptor precursor				ENSP00000064780		11-May									COSM3398125	11-May	.		ENST00000064780	Transcript				cytoplasm|integral to membrane|plasma membrane	binding|receptor activity	ENSG00000054967	g.chr11:73102204G>C	13764			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=TR19L_HUMAN&rb=1&re=162&var=W101C	getma.org/pdb.php?prot=TR19L_HUMAN&from=1&to=162&var=W101C	getma.org/?cm=var&var=hg19,11,73102204,G,C&fts=all	W101C	--	--	1																																		RELT_uc001otw.2_Missense_Mutation_p.W101C|RELT_uc009yto.1_Missense_Mutation_p.W19C|RELT_uc001otx.2_5'Flank	1	1		benign(0.235)	p.W101C	NM_152222	NP_689408		tolerated(0.12)	1	TR19L_HUMAN	RELT	HGNC	Q969Z4	TR19L_HUMAN			F5H2T5_HUMAN		5	468	+			UPI000003C9E6	101			Extracellular (Potential).		SNV	RELT,missense_variant,p.Trp101Cys,ENST00000064780,NM_152222.1;RELT,missense_variant,p.Trp101Cys,ENST00000393580,NM_032871.3;RELT,missense_variant,p.Trp101Cys,ENST00000545687,;RP11-809N8.2,downstream_gene_variant,,ENST00000544674,;RELT,intron_variant,,ENST00000544075,;RELT,upstream_gene_variant,,ENST00000545886,;RELT,upstream_gene_variant,,ENST00000539134,;RELT,upstream_gene_variant,,ENST00000537771,;	uc001otv.2	c.303G>C	564/3535	3	3			c.303G>C						11	SNP	c.(301-303)TGG>TGC	59	59			upper_aerodigestive_tract(1)	1	Broad	RELT tumor necrosis factor receptor precursor			73102204		0.587	ENSG00000054967	13010	g.chr11:73102204G>C		cytoplasm|integral to membrane|plasma membrane	binding|receptor activity							178.282178	KEEP	37	23	-1	74	34	37	23	-1	180.731428	74	34	0.364238	1	0	0	0	0	1	0	0	0	--	--		0	C			RELT_uc001otw.2_Missense_Mutation_p.W101C|RELT_uc009yto.1_Missense_Mutation_p.W19C|RELT_uc001otx.2_5'Flank	240	GBM-32-2632-TP	p.W101C	G	TTGGGCCTTGGGGGGTTCCCC	NM_152222	NP_689408	73102204	Q969Z4	TR19L_HUMAN	0			5	468	+	C	C			Missense_Mutation	101			Extracellular (Potential).			
REM1	28954	broad.mit.edu	GRCh37	20	30072181	30072181	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01	TCGA-06-0646-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000201979.2:c.845G>A	p.Arg282His	p.R282H	ENST00000201979	NM_014012.5	282	cGc/cAc	0			1			A	R/H	uc002wwa.2	protein_coding	YES	CCDS13181.1			845/897									lung(2)|pancreas(2)	4	c.(844-846)CGC>CAC			Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF216,hmmpanther:PTHR24070,PIRSF_domain:PIRSF038017	RAS-like GTP-binding protein REM				ENSP00000201979		5-May									COSM3405001	5-May	.		ENST00000201979	Transcript			small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	ENSG00000088320	g.chr20:30072181G>A	15922			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=REM1_HUMAN&rb=262&re=296&var=R282H	NA	getma.org/?cm=var&var=hg19,20,30072181,G,A&fts=all	R282H	--	--	1																																		NCRNA00028_uc010ztn.1_5'Flank	1	1		probably_damaging(0.976)	p.R282H	NM_014012	NP_054731		deleterious(0.04)	1	REM1_HUMAN	REM1	HGNC	O75628	REM1_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)				5	1129	+	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		UPI0000073CEB	282			Arg-rich.|Calmodulin-binding (By similarity).		SNV	REM1,missense_variant,p.Arg282His,ENST00000201979,NM_014012.5;LINC00028,upstream_gene_variant,,ENST00000435497,;	uc002wwa.2	c.845G>A	1138/1665	1	1			c.845G>A						20	SNP	c.(844-846)CGC>CAC	49	49			lung(2)|pancreas(2)	4	Broad	RAS-like GTP-binding protein REM			30072181		0.701	ENSG00000088320	13011	g.chr20:30072181G>A	small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			265			265	12.203535	KEEP	2	2	-1	1	1	2	2	-1	12.354074	1	1	0.666667	1	0	0	0	0	1	0	0	0	--	--		0	A			NCRNA00028_uc010ztn.1_5'Flank	60	GBM-06-0646-TP	p.R282H	G	AGCGCACGCCGCCGGGCACTC	NM_014012	NP_054731	30072181	O75628	REM1_HUMAN	0	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		5	1129	+	A	A	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Missense_Mutation	282			Arg-rich.|Calmodulin-binding (By similarity).			
REM1	28954	broad.mit.edu	GRCh37	20	30070268	30070268	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0882-01	TCGA-06-0882-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000201979.2:c.602G>A	p.Arg201His	p.R201H	ENST00000201979	NM_014012.5	201	cGc/cAc	0		A:0	1	A:0		A	R/H	uc002wwa.2	protein_coding	YES	CCDS13181.1			602/897									lung(2)|pancreas(2)	4	c.(601-603)CGC>CAC			PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF216,hmmpanther:PTHR24070,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,Pfam_domain:PF00071,SMART_domains:SM00175,SMART_domains:SM00174,SMART_domains:SM00173,PIRSF_domain:PIRSF038017,Superfamily_domains:SSF52540	RAS-like GTP-binding protein REM		A:0		ENSP00000201979	A:0.001	5-Apr	2.47E-05					4.54E-05			rs199660041,COSM1410944	5-Apr	.		ENST00000201979	Transcript		A:0.0002	small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	ENSG00000088320	g.chr20:30070268G>A	15922			MODERATE		1.16	low	getma.org/?cm=msa&ty=f&p=REM1_HUMAN&rb=82&re=245&var=R201H	getma.org/pdb.php?prot=REM1_HUMAN&from=82&to=245&var=R201H	getma.org/?cm=var&var=hg19,20,30070268,G,A&fts=all	R201H	--	--	1																																			0,1	1		probably_damaging(0.993)	p.R201H	NM_014012	NP_054731	A:0	deleterious(0)	0,1	REM1_HUMAN	REM1	HGNC	O75628	REM1_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)				4	886	+	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		UPI0000073CEB	201					SNV	REM1,missense_variant,p.Arg201His,ENST00000201979,NM_014012.5;LINC00028,upstream_gene_variant,,ENST00000435497,;	uc002wwa.2	c.602G>A	895/1665	2	2			c.602G>A						20	SNP	c.(601-603)CGC>CAC	38	38			lung(2)|pancreas(2)	4	Broad	RAS-like GTP-binding protein REM			30070268		0.612	ENSG00000088320	13011	g.chr20:30070268G>A	small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			265			265	36.860626	KEEP	11	12	-1	40	51	11	12	-1	43.634419	40	51	0.217391	1	0	0	0	0	1	0	0	0	--	--		0	A				77	GBM-06-0882-TP	p.R201H	G	GACTTGGCCCGCTGCCGAGAA	NM_014012	NP_054731	30070268	O75628	REM1_HUMAN	0	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		4	886	+	A	A	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Missense_Mutation	201						
REM1	0	broad.mit.edu	GRCh37	20	30065686	30065686	+	synonymous_variant	Silent	SNP	C	C	T	rs147559982		TCGA-26-6174-01	TCGA-26-6174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000201979.2:c.396C>T	p.Val132=	p.V132=	ENST00000201979	NM_014012.5	132	gtC/gtT	0	T:0.0002		1			T	V	uc002wwa.2	protein_coding	YES	CCDS13181.1			396/897									lung(2)|pancreas(2)	4	c.(394-396)GTC>GTT			PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF216,hmmpanther:PTHR24070,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,Pfam_domain:PF00071,SMART_domains:SM00175,SMART_domains:SM00174,SMART_domains:SM00173,PIRSF_domain:PIRSF038017,Superfamily_domains:SSF52540,Prints_domain:PR00449	RAS-like GTP-binding protein REM			T:0	ENSP00000201979		5-Mar	5.77E-05	0.000109	9.92E-05			8.17E-05			rs147559982,COSM3405000	5-Mar	.		ENST00000201979	Transcript			small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	ENSG00000088320	g.chr20:30065686C>T	15922			LOW								--	--	1																																			0,1	1			p.V132V	NM_014012	NP_054731			0,1	REM1_HUMAN	REM1	HGNC	O75628	REM1_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)				3	680	+	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		UPI0000073CEB	132					SNV	REM1,synonymous_variant,p.=,ENST00000201979,NM_014012.5;DEFB124,upstream_gene_variant,,ENST00000317676,NM_001037500.1;DEFB124,upstream_gene_variant,,ENST00000481595,;	uc002wwa.2	c.396C>T	689/1665	1	1			c.396C>T						20	SNP	c.(394-396)GTC>GTT	16	16			lung(2)|pancreas(2)	4	Broad	RAS-like GTP-binding protein REM			30065686		0.572	ENSG00000088320	13011	g.chr20:30065686C>T	small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			265			265	11.931883	KEEP	2	6	-1	14	17	2	6	-1	15.069354	14	17	0.181818	1	0	0	0	0	0	0	1	0	--	--		0	T				188	GBM-26-6174-TP	p.V132V	C	CACTGGTGGTCGTGGACACCT	NM_014012	NP_054731	30065686	O75628	REM1_HUMAN	0	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		3	680	+	T	T	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Silent	132						
REM2	161253		GRCh37	14	23353987	23353987	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000267396.4:c.208C>T	p.Pro70Ser	p.P70S	ENST00000267396	NM_173527.2	70	Cct/Tct	0																																																																																																																																																																																																																																												
REN	5972	broad.mit.edu	GRCh37	1	204135375	204135377	+	inframe_deletion	In_Frame_Del	DEL	AGC	AGC	-	rs121917743;rs142739309		TCGA-06-5411-01	TCGA-06-5411-01	AGC	AGC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000272190.8:c.45_47del	p.Leu16del	p.L16del	ENST00000272190	NM_000537.3	15	ctGCTc/ctc	0			1			-	LL/L	uc001haq.2	protein_coding	YES	CCDS30981.1			45-47/1221									skin(3)|central_nervous_system(1)	4	c.(43-48)CTGCTC>CTC			Cleavage_site_(Signalp):SignalP-TM,PROSITE_profiles:PS51257,hmmpanther:PTHR13683:SF77,hmmpanther:PTHR13683	renin preproprotein	Aliskiren(DB01258)|Remikiren(DB00212)			ENSP00000272190		10-Jan										10-Jan	.		ENST00000272190	Transcript	1		angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	ENSG00000143839	g.chr1:204135375_204135377delAGC	9958			MODERATE								--	--	1																																				1			p.15_16LL>L	NM_000537	NP_000528				RENI_HUMAN	REN	HGNC	P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Q9UQK5_HUMAN		1	89_91	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		UPI000000091F	15_16		L -> R (in HNFJ2; affects ER translocation and processing of nascent preprorenin, resulting in abolished prorenin and renin biosynthesis and secretion).			deletion	REN,inframe_deletion,p.Leu16del,ENST00000367195,;REN,inframe_deletion,p.Leu16del,ENST00000272190,NM_000537.3;	uc001haq.2	c.45_47delGCT	74-76/1447	5	5			c.45_47delGCT						1	DEL	c.(43-48)CTGCTC>CTC	62	62			skin(3)|central_nervous_system(1)	4	Broad	renin preproprotein		Aliskiren(DB01258)|Remikiren(DB00212)	204135377		0.581	ENSG00000143839	13013	g.chr1:204135375_204135377delAGC	angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity																				0	1	1	0	1	0	0	0	0	0	--	--		0	-				94	GBM-06-5411-TP	p.15_16LL>L	AGC	GGAGCCCCAGAGCAGCAGCAGCA	NM_000537	NP_000528	204135375	P00797	RENI_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		1	89_91	-	-	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		In_Frame_Del	15_16		L -> R (in HNFJ2; affects ER translocation and processing of nascent preprorenin, resulting in abolished prorenin and renin biosynthesis and secretion).				
REN	0	broad.mit.edu	GRCh37	1	204130489	204130489	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01	TCGA-32-2495-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000272190.8:c.304G>A	p.Val102Ile	p.V102I	ENST00000272190	NM_000537.3	102	Gtc/Atc	0			1			T	V/I	uc001haq.2	protein_coding	YES	CCDS30981.1			304/1221									skin(3)|central_nervous_system(1)	4	c.(304-306)GTC>ATC			hmmpanther:PTHR13683:SF77,hmmpanther:PTHR13683,PROSITE_patterns:PS00141,Pfam_domain:PF00026,Gene3D:2.40.70.10,Superfamily_domains:SSF50630,Prints_domain:PR00792	renin preproprotein	Aliskiren(DB01258)|Remikiren(DB00212)			ENSP00000272190		10-Mar									COSM216230	10-Mar	.		ENST00000272190	Transcript	1		angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	ENSG00000143839	g.chr1:204130489C>T	9958			MODERATE		-0.16	neutral	getma.org/?cm=msa&ty=f&p=RENI_HUMAN&rb=85&re=405&var=V102I	getma.org/pdb.php?prot=RENI_HUMAN&from=85&to=405&var=V102I	getma.org/?cm=var&var=hg19,1,204130489,C,T&fts=all	V102I	--	--	1																																			1	1		benign(0.02)	p.V102I	NM_000537	NP_000528		tolerated(0.31)	1	RENI_HUMAN	REN	HGNC	P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Q9UQK5_HUMAN		3	348	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		UPI000000091F	102					SNV	REN,missense_variant,p.Val102Ile,ENST00000367195,;REN,missense_variant,p.Val102Ile,ENST00000272190,NM_000537.3;	uc001haq.2	c.304G>A	333/1447	1	1			c.304G>A						1	SNP	c.(304-306)GTC>ATC	6	6			skin(3)|central_nervous_system(1)	4	Broad	renin preproprotein		Aliskiren(DB01258)|Remikiren(DB00212)	204130489		0.582	ENSG00000143839	13013	g.chr1:204130489C>T	angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity							32.083665	KEEP	6	6	-1	12	12	6	6	-1	32.84983	12	12	0.342857	1	0	0	0	0	1	0	0	0	--	--		0	T				237	GBM-32-2495-TP	p.V102I	C	GTGTCAAAGACGACTTTGAAG	NM_000537	NP_000528	204130489	P00797	RENI_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		3	348	-	T	T	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		Missense_Mutation	102						
REN	0	broad.mit.edu	GRCh37	1	204129738	204129738	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01	TCGA-41-3392-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000272190.8:c.442C>T	p.Arg148Cys	p.R148C	ENST00000272190	NM_000537.3	148	Cgc/Tgc	0		A:0	1	A:0		A	R/C	uc001haq.2	protein_coding	YES	CCDS30981.1			442/1221									skin(3)|central_nervous_system(1)	4	c.(442-444)CGC>TGC			hmmpanther:PTHR13683:SF77,hmmpanther:PTHR13683,Pfam_domain:PF00026,Gene3D:2.40.70.10,Superfamily_domains:SSF50630	renin preproprotein	Aliskiren(DB01258)|Remikiren(DB00212)	A:0.001		ENSP00000272190	A:0	10-Apr	4.12E-05		8.64E-05	0.000116		4.50E-05			rs191049685,COSM3400222	10-Apr	.		ENST00000272190	Transcript	1	A:0.0002	angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	ENSG00000143839	g.chr1:204129738G>A	9958			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=RENI_HUMAN&rb=85&re=405&var=R148C	getma.org/pdb.php?prot=RENI_HUMAN&from=85&to=405&var=R148C	getma.org/?cm=var&var=hg19,1,204129738,G,A&fts=all	R148C	--	--	1																																			0,1	1		benign(0.394)	p.R148C	NM_000537	NP_000528	A:0	deleterious(0.02)	0,1	RENI_HUMAN	REN	HGNC	P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Q9UQK5_HUMAN		4	486	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		UPI000000091F	148					SNV	REN,missense_variant,p.Arg148Cys,ENST00000367195,;REN,missense_variant,p.Arg148Cys,ENST00000272190,NM_000537.3;	uc001haq.2	c.442C>T	471/1447	1	1			c.442C>T						1	SNP	c.(442-444)CGC>TGC	60	60			skin(3)|central_nervous_system(1)	4	Broad	renin preproprotein		Aliskiren(DB01258)|Remikiren(DB00212)	204129738		0.562	ENSG00000143839	13013	g.chr1:204129738G>A	angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity							83.678049	KEEP	22	10	-1	23	38	22	10	-1	85.618365	23	38	0.337349	1	0	0	0	0	1	0	0	0	--	--		0	A				254	GBM-41-3392-TP	p.R148C	G	GTTGAATAGCGGAGGGTGAGT	NM_000537	NP_000528	204129738	P00797	RENI_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		4	486	-	A	A	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		Missense_Mutation	148						
REN	5972		GRCh37	1	204125330	204125330	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000272190.8:c.936G>T	p.Leu312Phe	p.L312F	ENST00000272190	NM_000537.3	312	ttG/ttT	0																																																																																																																																																																																																																																												
REN	5972		GRCh37	1	204135375	204135377	+	inframe_deletion	In_Frame_Del	DEL	AGC	AGC	-			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000272190.8:c.45_47del	p.Leu16del	p.L16del	ENST00000272190	NM_000537.3	15	ctGCTc/ctc	0																																																																																																																																																																																																																																												
RENBP	5973		GRCh37	X	153208532	153208532	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000393700.3:c.463-1G>A		p.X155_splice	ENST00000393700	NM_002910.5	155		0																																																																																																																																																																																																																																												
REPIN1	29803	broad.mit.edu	GRCh37	7	150069796	150069796	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0210-01	TCGA-06-0210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000489432.2:c.1637G>T	p.Cys546Phe	p.C546F	ENST00000489432	NM_001099695.1	546	tGc/tTc	0			1			T	C/F	uc010lpq.1	protein_coding		CCDS43677.1			1466/1704									pancreas(1)	1	c.(1465-1467)TGC>TTC			PROSITE_profiles:PS50157,hmmpanther:PTHR24406,hmmpanther:PTHR24406:SF0,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	replication initiator 1 isoform 1				ENSP00000380451		4-Apr									COSM2150690,COSM2150689	4-Apr	.		ENST00000397281	Transcript			DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	ENSG00000214022	g.chr7:150069796G>T	17922			MODERATE		4.145	high	getma.org/?cm=msa&ty=f&p=REPI1_HUMAN&rb=453&re=518&var=C489F	getma.org/pdb.php?prot=REPI1_HUMAN&from=473&to=498&var=C489F	getma.org/?cm=var&var=hg19,7,150069796,G,T&fts=all	C489F	--	--	1																																		REPIN1_uc003whd.2_Missense_Mutation_p.C478F|REPIN1_uc010lpr.1_Missense_Mutation_p.C546F|REPIN1_uc003whc.2_Missense_Mutation_p.C489F|REPIN1_uc003whe.2_Missense_Mutation_p.C489F	1,1			probably_damaging(1)	p.C489F	NM_013400	NP_037532		deleterious(0)	1,1	REPI1_HUMAN	REPIN1	HGNC	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		E7EVL6_HUMAN		4	1955	+	Ovarian(565;0.183)|Melanoma(164;0.226)		UPI0000071834	489			C2H2-type 13.		SNV	REPIN1,missense_variant,p.Cys489Phe,ENST00000397281,NM_013400.3;REPIN1,missense_variant,p.Cys489Phe,ENST00000444957,NM_001099696.2;REPIN1,missense_variant,p.Cys489Phe,ENST00000425389,NM_014374.3;REPIN1,missense_variant,p.Cys489Phe,ENST00000540729,;REPIN1,missense_variant,p.Cys546Phe,ENST00000489432,NM_001099695.1;REPIN1,3_prime_UTR_variant,,ENST00000479668,;ZNF775,intron_variant,,ENST00000478789,;REPIN1,downstream_gene_variant,,ENST00000488943,;REPIN1,downstream_gene_variant,,ENST00000475514,;REPIN1,downstream_gene_variant,,ENST00000482680,;REPIN1,downstream_gene_variant,,ENST00000466559,;REPIN1,downstream_gene_variant,,ENST00000519397,;REPIN1,downstream_gene_variant,,ENST00000518514,;RP4-584D14.5,upstream_gene_variant,,ENST00000488310,;REPIN1,downstream_gene_variant,,ENST00000518462,;REPIN1,downstream_gene_variant,,ENST00000473391,;REPIN1,downstream_gene_variant,,ENST00000469309,;REPIN1,downstream_gene_variant,,ENST00000467980,;REPIN1,downstream_gene_variant,,ENST00000486714,;REPIN1,downstream_gene_variant,,ENST00000495535,;REPIN1,downstream_gene_variant,,ENST00000522266,;REPIN1,downstream_gene_variant,,ENST00000487455,;	uc010lpq.1	c.1466G>T	1955/3292	1	1			c.1466G>T						7	SNP	c.(1465-1467)TGC>TTC	9	9			pancreas(1)	1	Broad	replication initiator 1 isoform 1			150069796		0.692	ENSG00000214022	13016	g.chr7:150069796G>T	DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding							58.219551	KEEP	12	20	0.375	72	62	12	20	0.375	66.989938	72	62	0.224	1	0	0	0	0	1	0	0	0	--	--		0	T			REPIN1_uc003whd.2_Missense_Mutation_p.C478F|REPIN1_uc010lpr.1_Missense_Mutation_p.C546F|REPIN1_uc003whc.2_Missense_Mutation_p.C489F|REPIN1_uc003whe.2_Missense_Mutation_p.C489F	47	GBM-06-0210-TP	p.C489F	G	CCCTACGTCTGCCCCGACTGC	NM_013400	NP_037532	150069796	Q9BWE0	REPI1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.011)		4	1955	+	T	T	Ovarian(565;0.183)|Melanoma(164;0.226)		Missense_Mutation	489			C2H2-type 13.			
REPIN1	29803	broad.mit.edu	GRCh37	7	150069659	150069659	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-0211-01	TCGA-06-0211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000489432.2:c.1500C>A	p.Gly500=	p.G500=	ENST00000489432	NM_001099695.1	500	ggC/ggA	0			1			A	G	uc010lpq.1	protein_coding		CCDS43677.1			1329/1704									pancreas(1)	1	c.(1327-1329)GGC>GGA			PROSITE_profiles:PS50157,hmmpanther:PTHR24406,hmmpanther:PTHR24406:SF0,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	replication initiator 1 isoform 1				ENSP00000380451		4-Apr									COSM2150743,COSM2150742	4-Apr	.		ENST00000397281	Transcript			DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	ENSG00000214022	g.chr7:150069659C>A	17922			LOW								--	--	1																																		REPIN1_uc003whd.2_Silent_p.G432G|REPIN1_uc010lpr.1_Silent_p.G500G|REPIN1_uc003whc.2_Silent_p.G443G|REPIN1_uc003whe.2_Silent_p.G443G	1,1				p.G443G	NM_013400	NP_037532			1,1	REPI1_HUMAN	REPIN1	HGNC	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		E7EVL6_HUMAN		4	1818	+	Ovarian(565;0.183)|Melanoma(164;0.226)		UPI0000071834	443			C2H2-type 11.		SNV	REPIN1,synonymous_variant,p.=,ENST00000397281,NM_013400.3;REPIN1,synonymous_variant,p.=,ENST00000444957,NM_001099696.2;REPIN1,synonymous_variant,p.=,ENST00000425389,NM_014374.3;REPIN1,synonymous_variant,p.=,ENST00000540729,;REPIN1,synonymous_variant,p.=,ENST00000489432,NM_001099695.1;REPIN1,3_prime_UTR_variant,,ENST00000479668,;ZNF775,intron_variant,,ENST00000478789,;REPIN1,downstream_gene_variant,,ENST00000488943,;REPIN1,downstream_gene_variant,,ENST00000475514,;REPIN1,downstream_gene_variant,,ENST00000482680,;REPIN1,downstream_gene_variant,,ENST00000466559,;REPIN1,downstream_gene_variant,,ENST00000519397,;REPIN1,downstream_gene_variant,,ENST00000518514,;RP4-584D14.5,non_coding_transcript_exon_variant,,ENST00000488310,;REPIN1,downstream_gene_variant,,ENST00000518462,;REPIN1,downstream_gene_variant,,ENST00000473391,;REPIN1,downstream_gene_variant,,ENST00000469309,;REPIN1,downstream_gene_variant,,ENST00000467980,;REPIN1,downstream_gene_variant,,ENST00000486714,;REPIN1,downstream_gene_variant,,ENST00000495535,;REPIN1,downstream_gene_variant,,ENST00000522266,;REPIN1,downstream_gene_variant,,ENST00000487455,;	uc010lpq.1	c.1329C>A	1818/3292	2	2			c.1329C>A						7	SNP	c.(1327-1329)GGC>GGA	30	30			pancreas(1)	1	Broad	replication initiator 1 isoform 1			150069659		0.716	ENSG00000214022	13016	g.chr7:150069659C>A	DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding							19.91862	KEEP	3	6	0.666666667	6	10	3	6	0.666666667	20.315815	6	10	0.35	1	0	0	0	0	0	0	1	0	--	--		0	A			REPIN1_uc003whd.2_Silent_p.G432G|REPIN1_uc010lpr.1_Silent_p.G500G|REPIN1_uc003whc.2_Silent_p.G443G|REPIN1_uc003whe.2_Silent_p.G443G	48	GBM-06-0211-TP	p.G443G	C	TCTCCCAGGGCAGCCATCTGG	NM_013400	NP_037532	150069659	Q9BWE0	REPI1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.011)		4	1818	+	A	A	Ovarian(565;0.183)|Melanoma(164;0.226)		Silent	443			C2H2-type 11.			
REPIN1	0	broad.mit.edu	GRCh37	7	150069842	150069842	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397281.2:c.1512G>A	p.Ser504=	p.S504=	ENST00000397281	NM_013400.3	504	tcG/tcA	0			1			A	S	uc010lpq.1	protein_coding		CCDS43677.1			1512/1704									pancreas(1)	1	c.(1510-1512)TCG>TCA			PROSITE_profiles:PS50157,hmmpanther:PTHR24406,hmmpanther:PTHR24406:SF0,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	replication initiator 1 isoform 1				ENSP00000380451		4-Apr	6.59E-05	0.000103				0.000107			rs749777134,COSM3411785,COSM3411784	4-Apr	.		ENST00000397281	Transcript			DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	ENSG00000214022	g.chr7:150069842G>A	17922			LOW								--	--	1																																		REPIN1_uc003whd.2_Silent_p.S493S|REPIN1_uc010lpr.1_Silent_p.S561S|REPIN1_uc003whc.2_Silent_p.S504S|REPIN1_uc003whe.2_Silent_p.S504S	0,1,1				p.S504S	NM_013400	NP_037532			0,1,1	REPI1_HUMAN	REPIN1	HGNC	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		E7EVL6_HUMAN		4	2001	+	Ovarian(565;0.183)|Melanoma(164;0.226)		UPI0000071834	504			C2H2-type 13.		SNV	REPIN1,synonymous_variant,p.=,ENST00000397281,NM_013400.3;REPIN1,synonymous_variant,p.=,ENST00000444957,NM_001099696.2;REPIN1,synonymous_variant,p.=,ENST00000425389,NM_014374.3;REPIN1,synonymous_variant,p.=,ENST00000540729,;REPIN1,synonymous_variant,p.=,ENST00000489432,NM_001099695.1;REPIN1,3_prime_UTR_variant,,ENST00000479668,;ZNF775,intron_variant,,ENST00000478789,;REPIN1,downstream_gene_variant,,ENST00000488943,;REPIN1,downstream_gene_variant,,ENST00000475514,;REPIN1,downstream_gene_variant,,ENST00000482680,;REPIN1,downstream_gene_variant,,ENST00000466559,;REPIN1,downstream_gene_variant,,ENST00000519397,;REPIN1,downstream_gene_variant,,ENST00000518514,;RP4-584D14.5,upstream_gene_variant,,ENST00000488310,;REPIN1,downstream_gene_variant,,ENST00000518462,;REPIN1,downstream_gene_variant,,ENST00000473391,;REPIN1,downstream_gene_variant,,ENST00000469309,;REPIN1,downstream_gene_variant,,ENST00000467980,;REPIN1,downstream_gene_variant,,ENST00000486714,;REPIN1,downstream_gene_variant,,ENST00000495535,;REPIN1,downstream_gene_variant,,ENST00000522266,;REPIN1,downstream_gene_variant,,ENST00000487455,;	uc010lpq.1	c.1512G>A	2001/3292	1	1			c.1512G>A						7	SNP	c.(1510-1512)TCG>TCA	53	53			pancreas(1)	1	Broad	replication initiator 1 isoform 1			150069842		0.667	ENSG00000214022	13016	g.chr7:150069842G>A	DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding							50.812374	KEEP	8	13	-1	15	18	8	13	-1	51.24107	15	18	0.4	1	0	0	0	0	0	0	1	0	--	--		0	A			REPIN1_uc003whd.2_Silent_p.S493S|REPIN1_uc010lpr.1_Silent_p.S561S|REPIN1_uc003whc.2_Silent_p.S504S|REPIN1_uc003whe.2_Silent_p.S504S	177	GBM-19-5959-TP	p.S504S	G	ACCTGGTGTCGCACCGGCGCA	NM_013400	NP_037532	150069842	Q9BWE0	REPI1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.011)		4	2001	+	A	A	Ovarian(565;0.183)|Melanoma(164;0.226)		Silent	504			C2H2-type 13.			
REPIN1	0	broad.mit.edu	GRCh37	7	150068992	150068992	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5219-01	TCGA-28-5219-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397281.2:c.662C>T	p.Ala221Val	p.A221V	ENST00000397281	NM_013400.3	221	gCg/gTg	0			1			T	A/V	uc010lpq.1	protein_coding		CCDS43677.1			662/1704									pancreas(1)	1	c.(661-663)GCG>GTG			hmmpanther:PTHR24406,hmmpanther:PTHR24406:SF0	replication initiator 1 isoform 1				ENSP00000380451		4-Apr									COSM3411781,COSM3411780	4-Apr	.		ENST00000397281	Transcript			DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	ENSG00000214022	g.chr7:150068992C>T	17922			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=REPI1_HUMAN&rb=200&re=249&var=A221V	NA	getma.org/?cm=var&var=hg19,7,150068992,C,T&fts=all	A221V	--	--	1																																		REPIN1_uc003whd.2_Missense_Mutation_p.A210V|REPIN1_uc010lpr.1_Missense_Mutation_p.A278V|REPIN1_uc003whc.2_Missense_Mutation_p.A221V|REPIN1_uc003whe.2_Missense_Mutation_p.A221V	1,1			possibly_damaging(0.642)	p.A221V	NM_013400	NP_037532		tolerated(0.17)	1,1	REPI1_HUMAN	REPIN1	HGNC	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		E7EVL6_HUMAN		4	1151	+	Ovarian(565;0.183)|Melanoma(164;0.226)		UPI0000071834	221					SNV	REPIN1,missense_variant,p.Ala221Val,ENST00000397281,NM_013400.3;REPIN1,missense_variant,p.Ala221Val,ENST00000444957,NM_001099696.2;REPIN1,missense_variant,p.Ala221Val,ENST00000425389,NM_014374.3;REPIN1,missense_variant,p.Ala221Val,ENST00000540729,;REPIN1,missense_variant,p.Ala278Val,ENST00000489432,NM_001099695.1;REPIN1,missense_variant,p.Ala281Val,ENST00000488943,;REPIN1,missense_variant,p.Ala280Val,ENST00000475514,;REPIN1,3_prime_UTR_variant,,ENST00000479668,;REPIN1,3_prime_UTR_variant,,ENST00000466559,;ZNF775,intron_variant,,ENST00000478789,;REPIN1,downstream_gene_variant,,ENST00000482680,;REPIN1,downstream_gene_variant,,ENST00000519397,;REPIN1,downstream_gene_variant,,ENST00000518514,;RP4-584D14.5,intron_variant,,ENST00000488310,;REPIN1,downstream_gene_variant,,ENST00000518462,;REPIN1,downstream_gene_variant,,ENST00000473391,;REPIN1,downstream_gene_variant,,ENST00000469309,;REPIN1,downstream_gene_variant,,ENST00000467980,;REPIN1,downstream_gene_variant,,ENST00000486714,;REPIN1,downstream_gene_variant,,ENST00000495535,;REPIN1,downstream_gene_variant,,ENST00000522266,;REPIN1,downstream_gene_variant,,ENST00000487455,;	uc010lpq.1	c.662C>T	1151/3292	2	2			c.662C>T						7	SNP	c.(661-663)GCG>GTG	33	33			pancreas(1)	1	Broad	replication initiator 1 isoform 1			150068992		0.488	ENSG00000214022	13016	g.chr7:150068992C>T	DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding							3.916235	KEEP	5	2	-1	30	25	5	2	-1	11.98957	30	25	0.111111	1	0	0	0	0	1	0	0	0	--	--		0	T			REPIN1_uc003whd.2_Missense_Mutation_p.A210V|REPIN1_uc010lpr.1_Missense_Mutation_p.A278V|REPIN1_uc003whc.2_Missense_Mutation_p.A221V|REPIN1_uc003whe.2_Missense_Mutation_p.A221V	225	GBM-28-5219-TP	p.A221V	C	ggccgccccgcggtgaccgcc	NM_013400	NP_037532	150068992	Q9BWE0	REPI1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.011)		4	1151	+	T	T	Ovarian(565;0.183)|Melanoma(164;0.226)		Missense_Mutation	221						
REPIN1	29803		GRCh37	7	150068350	150068350	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000489432.2:c.191G>A	p.Arg64Lys	p.R64K	ENST00000489432	NM_001099695.1	64	aGg/aAg	0																																																																																																																																																																																																																																												
REPIN1	29803		GRCh37	7	150069247	150069247	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000489432.2:c.1088A>G	p.Asn363Ser	p.N363S	ENST00000489432	NM_001099695.1	363	aAc/aGc	0																																																																																																																																																																																																																																												
REPS1	0	broad.mit.edu	GRCh37	6	139251126	139251126	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-28-2513-01	TCGA-28-2513-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000450536.2:c.1245delT	p.Gln416ArgfsTer19	p.Q416Rfs*19	ENST00000450536	NM_001286611.1	415	aaT/aa	0			1			-	N/X	uc003qii.2	protein_coding		CCDS69213.1			1245/2391									lung(1)|breast(1)	2	c.(1243-1245)AATfs			hmmpanther:PTHR11216,hmmpanther:PTHR11216:SF63	RALBP1 associated Eps domain containing 1				ENSP00000392065		20-Sep										20-Sep	.		ENST00000450536	Transcript				coated pit|plasma membrane	calcium ion binding|SH3 domain binding	ENSG00000135597	g.chr6:139251126delA	15578			HIGH								--	--	1																																		REPS1_uc003qig.3_Frame_Shift_Del_p.N415fs|REPS1_uc011edr.1_Frame_Shift_Del_p.N415fs|REPS1_uc003qij.2_Frame_Shift_Del_p.N415fs|REPS1_uc003qik.2_Frame_Shift_Del_p.N48fs					p.N415fs	NM_031922	NP_114128				REPS1_HUMAN	REPS1	HGNC	Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)			9	1824	-			UPI000020E300	415					deletion	REPS1,frameshift_variant,p.Gln416ArgfsTer19,ENST00000450536,NM_001286611.1;REPS1,frameshift_variant,p.Gln416ArgfsTer19,ENST00000258062,NM_031922.3;REPS1,frameshift_variant,p.Gln416ArgfsTer16,ENST00000367663,NM_001128617.1;REPS1,frameshift_variant,p.Gln416ArgfsTer16,ENST00000409812,NM_001286612.1;REPS1,frameshift_variant,p.Gln402ArgfsTer16,ENST00000529597,;REPS1,frameshift_variant,p.Gln416ArgfsTer16,ENST00000415951,;REPS1,frameshift_variant,p.Gln4ArgfsTer18,ENST00000530255,;REPS1,3_prime_UTR_variant,,ENST00000483468,;REPS1,3_prime_UTR_variant,,ENST00000445570,;REPS1,3_prime_UTR_variant,,ENST00000431346,;REPS1,3_prime_UTR_variant,,ENST00000414243,;REPS1,downstream_gene_variant,,ENST00000530575,;	uc003qii.2	c.1245delT	1820/4537	5	5			c.1245delT						6	DEL	c.(1243-1245)AATfs	62	62			lung(1)|breast(1)	2	Broad	RALBP1 associated Eps domain containing 1			139251126		0.448	ENSG00000135597	13017	g.chr6:139251126delA		coated pit|plasma membrane	calcium ion binding|SH3 domain binding																				0.12	1	1	0	1	0	0	0	0	0	--	--		0	-			REPS1_uc003qig.3_Frame_Shift_Del_p.N415fs|REPS1_uc011edr.1_Frame_Shift_Del_p.N415fs|REPS1_uc003qij.2_Frame_Shift_Del_p.N415fs|REPS1_uc003qik.2_Frame_Shift_Del_p.N48fs	213	GBM-28-2513-TP	p.N415fs	A	CACTGCTCTGATTCAGCTCAG	NM_031922	NP_114128	139251126	Q96D71	REPS1_HUMAN	0		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	9	1824	-	-	-			Frame_Shift_Del	415						
REPS1	85021		GRCh37	6	139266737	139266737	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000258062.5:c.375G>A	p.Ser125=	p.S125=	ENST00000258062	NM_031922.3	125	tcG/tcA	0																																																																																																																																																																																																																																												
REPS2	9185	broad.mit.edu	GRCh37	X	17157019	17157019	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0210-01	TCGA-06-0210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357277.3:c.1849C>T	p.Arg617Cys	p.R617C	ENST00000357277	NM_001080975.1	617	Cgc/Tgc	0			1			T	R/C	uc004cxv.1	protein_coding	YES	CCDS14180.2			1849/1983									skin(2)|central_nervous_system(1)	3	c.(1849-1851)CGC>TGC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11216:SF64,hmmpanther:PTHR11216	RALBP1 associated Eps domain containing 2				ENSP00000349824		17/18									COSM3406201,COSM3406200	17/18	.		ENST00000357277	Transcript			epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding	ENSG00000169891	g.chrX:17157019C>T	9963			MODERATE		2.36	medium	getma.org/?cm=msa&ty=f&p=REPS2_HUMAN&rb=381&re=659&var=R617C	NA	getma.org/?cm=var&var=hg19,X,17157019,C,T&fts=all	R617C	--	--	1																																		REPS2_uc004cxw.1_Missense_Mutation_p.R616C|REPS2_uc011miw.1_Missense_Mutation_p.R415C	1,1	1		probably_damaging(1)	p.R617C	NM_004726	NP_004717		deleterious(0)	1,1	REPS2_HUMAN	REPS2	HGNC	Q8NFH8	REPS2_HUMAN					17	2020	+	Hepatocellular(33;0.183)		UPI00001BBB18	617			Interaction with ASAP1 (By similarity).|Interaction with RALBP1.|Potential.		SNV	REPS2,missense_variant,p.Arg617Cys,ENST00000357277,NM_001080975.1,NM_004726.2;REPS2,missense_variant,p.Arg616Cys,ENST00000303843,;REPS2,missense_variant,p.Arg416Cys,ENST00000380064,;REPS2,non_coding_transcript_exon_variant,,ENST00000469714,;REPS2,non_coding_transcript_exon_variant,,ENST00000470686,;	uc004cxv.1	c.1849C>T	2020/7945	2	2			c.1849C>T						23	SNP	c.(1849-1851)CGC>TGC	22	22			skin(2)|central_nervous_system(1)	3	Broad	RALBP1 associated Eps domain containing 2			17157019		0.483	ENSG00000169891	13018	g.chrX:17157019C>T	epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding							24.022131	KEEP	4	6	-1	26	20	4	6	-1	27.804626	26	20	0.208333	1	0	0	0	0	1	0	0	0	--	--		0	T			REPS2_uc004cxw.1_Missense_Mutation_p.R616C|REPS2_uc011miw.1_Missense_Mutation_p.R415C	47	GBM-06-0210-TP	p.R617C	C	AACTGCTATCCGCAAAAATAA	NM_004726	NP_004717	17157019	Q8NFH8	REPS2_HUMAN	0			17	2020	+	T	T	Hepatocellular(33;0.183)		Missense_Mutation	617			Interaction with ASAP1 (By similarity).|Interaction with RALBP1.|Potential.			
RERE	473	broad.mit.edu	GRCh37	1	8716284	8716285	+	frameshift_variant	Frame_Shift_Del	DEL	TC	TC	-			TCGA-06-0214-01	TCGA-06-0214-01	TC	TC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337907.3:c.72_73del	p.Asp27GlnfsTer6	p.D27Qfs*6	ENST00000337907	NM_012102.3	24	gaGAaa/gaaa	0			1			-	EK/EX	uc001ape.2	protein_coding	YES	CCDS95.1			72-73/4701									ovary(1)|central_nervous_system(1)	2	c.(70-75)GAGAAAfs			Low_complexity_(Seg):seg	atrophin-1 like protein isoform a				ENSP00000338629		24-Mar	8.24E-05			0.000116		0.000105			rs759541634,COSM1264007	24-Mar	.		ENST00000337907	Transcript			multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000142599	g.chr1:8716284_8716285delTC	9965			HIGH								--	--	1																																		RERE_uc001apf.2_Frame_Shift_Del_p.E24fs|RERE_uc001aph.1_Frame_Shift_Del_p.E24fs	0,1	1			p.E24fs	NM_012102	NP_036234			0,1	RERE_HUMAN	RERE	HGNC	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	K7EJQ1_HUMAN,K7EIQ4_HUMAN,K7EIE3_HUMAN		3	882_883	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	UPI00001419CC	24_25					deletion	RERE,frameshift_variant,p.Asp27GlnfsTer6,ENST00000337907,NM_012102.3;RERE,frameshift_variant,p.Asp27GlnfsTer6,ENST00000400908,NM_001042681.1;RERE,frameshift_variant,p.Asp27GlnfsTer6,ENST00000400907,;RERE,frameshift_variant,p.Asp27GlnfsTer6,ENST00000468247,;RERE,non_coding_transcript_exon_variant,,ENST00000480342,;	uc001ape.2	c.72_73delGA	707-708/8026	5	5			c.72_73delGA						1	DEL	c.(70-75)GAGAAAfs	63	63			ovary(1)|central_nervous_system(1)	2	Broad	atrophin-1 like protein isoform a			8716285		0.342	ENSG00000142599	13020	g.chr1:8716284_8716285delTC	multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding																				0.01	1	1	0	1	0	0	0	0	0	--	--		0	-			RERE_uc001apf.2_Frame_Shift_Del_p.E24fs|RERE_uc001aph.1_Frame_Shift_Del_p.E24fs	50	GBM-06-0214-TP	p.E24fs	TC	TTGTCTCTTTTCtctctctctc	NM_012102	NP_036234	8716284	Q9P2R6	RERE_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	3	882_883	-	-	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	Frame_Shift_Del	24_25						
RERE	0	broad.mit.edu	GRCh37	1	8424241	8424242	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-19-5947-01	TCGA-19-5947-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337907.3:c.1614dupA	p.Tyr539IlefsTer3	p.Y539Ifs*3	ENST00000337907	NM_012102.3	538	-/A	0			1			T	-/X	uc001ape.2	protein_coding	YES	CCDS95.1			1614-1615/4701									ovary(1)|central_nervous_system(1)	2	c.(1612-1617)AAATACfs			Gene3D:3.30.50.10,Pfam_domain:PF00320,hmmpanther:PTHR13859,hmmpanther:PTHR13859:SF12,SMART_domains:SM00401,Superfamily_domains:SSF57716	atrophin-1 like protein isoform a				ENSP00000338629		16/24										16/24	.		ENST00000337907	Transcript			multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000142599	g.chr1:8424241_8424242insT	9965			HIGH								--	--	1																																		RERE_uc001apf.2_Frame_Shift_Ins_p.K538fs|RERE_uc010nzx.1_Frame_Shift_Ins_p.K270fs|RERE_uc001apd.2_5'UTR		1			p.K538fs	NM_012102	NP_036234				RERE_HUMAN	RERE	HGNC	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	K7EJQ1_HUMAN,K7EIQ4_HUMAN,K7EIE3_HUMAN		16	2424_2425	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	UPI00001419CC	538_539					insertion	RERE,frameshift_variant,p.Tyr539IlefsTer3,ENST00000337907,NM_012102.3;RERE,frameshift_variant,p.Tyr271IlefsTer3,ENST00000377464,;RERE,frameshift_variant,p.Tyr539IlefsTer3,ENST00000400908,NM_001042681.1;RERE,5_prime_UTR_variant,,ENST00000476556,NM_001042682.1;RERE,5_prime_UTR_variant,,ENST00000488215,;RERE,intron_variant,,ENST00000400907,;RERE,upstream_gene_variant,,ENST00000505225,;RERE,downstream_gene_variant,,ENST00000460659,;RERE,downstream_gene_variant,,ENST00000465125,;RERE,downstream_gene_variant,,ENST00000492766,;RERE,frameshift_variant,p.Tyr57IlefsTer3,ENST00000464367,;	uc001ape.2	c.1614_1615insA	2249-2250/8026	5	5			c.1614_1615insA						1	INS	c.(1612-1617)AAATACfs	36	36			ovary(1)|central_nervous_system(1)	2	Broad	atrophin-1 like protein isoform a			8424242		0.569	ENSG00000142599	13020	g.chr1:8424241_8424242insT	multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding																				0.4	1	0	0	1	1	0	0	0	0	--	--		0	T			RERE_uc001apf.2_Frame_Shift_Ins_p.K538fs|RERE_uc010nzx.1_Frame_Shift_Ins_p.K270fs|RERE_uc001apd.2_5'UTR	169	GBM-19-5947-TP	p.K538fs	-	AGCTCACCGTATTTCTTGAAGT	NM_012102	NP_036234	8424241	Q9P2R6	RERE_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	16	2424_2425	-	T	T	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	Frame_Shift_Ins	538_539						
RERE	0	broad.mit.edu	GRCh37	1	8419978	8419978	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01	TCGA-28-5219-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337907.3:c.3464C>T	p.Ala1155Val	p.A1155V	ENST00000337907	NM_012102.3	1155	gCc/gTc	0			1			A	A/V	uc001ape.2	protein_coding	YES	CCDS95.1			3464/4701									ovary(1)|central_nervous_system(1)	2	c.(3463-3465)GCC>GTC			Pfam_domain:PF03154,hmmpanther:PTHR13859,hmmpanther:PTHR13859:SF12	atrophin-1 like protein isoform a				ENSP00000338629		20/24									COSM3401038	20/24	.		ENST00000337907	Transcript			multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000142599	g.chr1:8419978G>A	9965			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=RERE_HUMAN&rb=568&re=1566&var=A1155V	NA	getma.org/?cm=var&var=hg19,1,8419978,G,A&fts=all	A1155V	--	--	1																																		RERE_uc001apf.2_Missense_Mutation_p.A1155V|RERE_uc001apd.2_Missense_Mutation_p.A601V	1	1		unknown(0)	p.A1155V	NM_012102	NP_036234			1	RERE_HUMAN	RERE	HGNC	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	K7EJQ1_HUMAN,K7EIQ4_HUMAN,K7EIE3_HUMAN		20	4274	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	UPI00001419CC	1155					SNV	RERE,missense_variant,p.Ala1155Val,ENST00000337907,NM_012102.3;RERE,missense_variant,p.Ala887Val,ENST00000377464,;RERE,missense_variant,p.Ala1155Val,ENST00000400908,NM_001042681.1;RERE,missense_variant,p.Ala601Val,ENST00000476556,NM_001042682.1;RERE,intron_variant,,ENST00000400907,;RERE,intron_variant,,ENST00000505225,;RERE,downstream_gene_variant,,ENST00000488215,;RERE,upstream_gene_variant,,ENST00000467350,;RERE,downstream_gene_variant,,ENST00000464367,;	uc001ape.2	c.3464C>T	4099/8026	2	2			c.3464C>T						1	SNP	c.(3463-3465)GCC>GTC	18	18			ovary(1)|central_nervous_system(1)	2	Broad	atrophin-1 like protein isoform a			8419978		0.562	ENSG00000142599	13020	g.chr1:8419978G>A	multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							-27.120181	KEEP	2	3	-1	85	80	2	3	-1	7.130869	85	80	0.028571	1	0	0	0	0	1	0	0	0	--	--		0	A			RERE_uc001apf.2_Missense_Mutation_p.A1155V|RERE_uc001apd.2_Missense_Mutation_p.A601V	225	GBM-28-5219-TP	p.A1155V	G	CTTGGACCCGGCCAGAGGCAT	NM_012102	NP_036234	8419978	Q9P2R6	RERE_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	20	4274	-	A	A	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	1155						
RERE	0	broad.mit.edu	GRCh37	1	8684379	8684379	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-28-5219-01	TCGA-28-5219-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337907.3:c.386A>C	p.Asp129Ala	p.D129A	ENST00000337907	NM_012102.3	129	gAc/gCc	0			1			G	D/A	uc001ape.2	protein_coding	YES	CCDS95.1			386/4701									ovary(1)|central_nervous_system(1)	2	c.(385-387)GAC>GCC			Pfam_domain:PF01426,PROSITE_profiles:PS51038,SMART_domains:SM00439	atrophin-1 like protein isoform a				ENSP00000338629		24-Apr									COSM3401061	24-Apr	.		ENST00000337907	Transcript			multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000142599	g.chr1:8684379T>G	9965			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=RERE_HUMAN&rb=103&re=283&var=D129A	NA	getma.org/?cm=var&var=hg19,1,8684379,T,G&fts=all	D129A	--	--	1																																		RERE_uc001apf.2_Missense_Mutation_p.D129A|RERE_uc001aph.1_Missense_Mutation_p.D129A	1	1		possibly_damaging(0.743)	p.D129A	NM_012102	NP_036234			1	RERE_HUMAN	RERE	HGNC	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	K7EJQ1_HUMAN,K7EIQ4_HUMAN,K7EIE3_HUMAN		4	1196	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	UPI00001419CC	129			BAH.		SNV	RERE,missense_variant,p.Asp129Ala,ENST00000337907,NM_012102.3;RERE,missense_variant,p.Asp129Ala,ENST00000400908,NM_001042681.1;RERE,missense_variant,p.Asp129Ala,ENST00000400907,;RERE,missense_variant,p.Asp21Ala,ENST00000514428,;RERE,non_coding_transcript_exon_variant,,ENST00000480342,;	uc001ape.2	c.386A>C	1021/8026	3	3			c.386A>C						1	SNP	c.(385-387)GAC>GCC	50	50			ovary(1)|central_nervous_system(1)	2	Broad	atrophin-1 like protein isoform a			8684379		0.383	ENSG00000142599	13020	g.chr1:8684379T>G	multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							294.550944	KEEP	49	56	-1	87	95	49	56	-1	298.016774	87	95	0.368421	1	0	0	0	0	1	0	0	0	--	--		0	G			RERE_uc001apf.2_Missense_Mutation_p.D129A|RERE_uc001aph.1_Missense_Mutation_p.D129A	225	GBM-28-5219-TP	p.D129A	T	CAGTTTGAAGTCTTGAATGCT	NM_012102	NP_036234	8684379	Q9P2R6	RERE_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	4	1196	-	G	G	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	129			BAH.			
RERG	0	broad.mit.edu	GRCh37	12	15262109	15262109	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-16-0861-01	TCGA-16-0861-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256953.2:c.535C>T	p.Arg179Ter	p.R179*	ENST00000256953	NM_032918.2	179	Cga/Tga	0			1			A	R/*	uc001rcs.2	protein_coding	YES	CCDS8673.1			535/600									lung(1)	1	c.(535-537)CGA>TGA			PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF228	RAS-like, estrogen-regulated, growth inhibitor				ENSP00000256953		5-May									COSM937590	5-May	.		ENST00000256953	Transcript			negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity	ENSG00000134533	g.chr12:15262109G>A	15980			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,12,15262109,G,A&fts=all	R179*	--	--	1																																		RERG_uc001rct.2_Nonsense_Mutation_p.R179*|RERG_uc010shu.1_Nonsense_Mutation_p.R160*	1	1			p.R179*	NM_032918	NP_116307			1	RERG_HUMAN	RERG	HGNC	Q96A58	RERG_HUMAN			F5GYR1_HUMAN		4	675	-			UPI000004C2A7	179					SNV	RERG,stop_gained,p.Arg179Ter,ENST00000256953,NM_032918.2;RERG,stop_gained,p.Arg179Ter,ENST00000536465,;RERG,stop_gained,p.Arg179Ter,ENST00000538313,;RERG,stop_gained,p.Arg160Ter,ENST00000546331,NM_001190726.1;RERG,downstream_gene_variant,,ENST00000537647,;RERG,downstream_gene_variant,,ENST00000545567,;RERG-IT1,downstream_gene_variant,,ENST00000539734,;	uc001rcs.2	c.535C>T	872/2264	5	1			c.535C>T						12	SNP	c.(535-537)CGA>TGA	57	57			lung(1)	1	Broad	RAS-like, estrogen-regulated, growth inhibitor			15262109		0.532	ENSG00000134533	13021	g.chr12:15262109G>A	negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity							181.868008	KEEP	29	37	-1	23	11	29	37	-1	185.144506	23	11	0.698925	1	0	0	0	0	0	1	0	0	--	--		0	A			RERG_uc001rct.2_Nonsense_Mutation_p.R179*|RERG_uc010shu.1_Nonsense_Mutation_p.R160*	156	GBM-16-0861-TP	p.R179*	G	GAGCTGCGTCGCCTCGTCTTG	NM_032918	NP_116307	15262109	Q96A58	RERG_HUMAN	0			4	675	-	A	A			Nonsense_Mutation	179						
RERGL	79785	broad.mit.edu	GRCh37	12	18237578	18237578	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-6391-01	TCGA-06-6391-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000229002.2:c.208C>A	p.Leu70Ile	p.L70I	ENST00000229002	NM_024730.2	70	Ctc/Atc	0			1			T	L/I	uc001rdq.2	protein_coding	YES	CCDS8679.1			208/618										0	c.(208-210)CTC>ATC			Gene3D:3.40.50.300,Pfam_domain:PF00071,PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF30,SMART_domains:SM00173,SMART_domains:SM00175,Superfamily_domains:SSF52540	RERG/RAS-like				ENSP00000229002		6-May										6-May	.		ENST00000229002	Transcript			signal transduction	membrane	GTP binding|GTPase activity	ENSG00000111404	g.chr12:18237578G>T	26213			MODERATE		0.815	low	getma.org/?cm=msa&ty=f&p=RERGL_HUMAN&rb=12&re=174&var=L70I	getma.org/pdb.php?prot=RERGL_HUMAN&from=12&to=174&var=L70I	getma.org/?cm=var&var=hg19,12,18237578,G,T&fts=all	L70I	--	--	1																																		RERGL_uc001rdr.2_Missense_Mutation_p.L69I		1		benign(0.213)	p.L70I	NM_024730	NP_079006		tolerated(0.22)		RERGL_HUMAN	RERGL	HGNC	Q9H628	RERGL_HUMAN					5	402	-			UPI000000D9FA	70			Small GTPase-like.		SNV	RERGL,missense_variant,p.Leu70Ile,ENST00000229002,NM_024730.2;RERGL,missense_variant,p.Leu69Ile,ENST00000538724,NM_001286201.1;RERGL,intron_variant,,ENST00000536890,;RERGL,non_coding_transcript_exon_variant,,ENST00000541632,;RERGL,non_coding_transcript_exon_variant,,ENST00000540148,;	uc001rdq.2	c.208C>A	415/1147	1	1			c.208C>A						12	SNP	c.(208-210)CTC>ATC	13	13				0	Broad	RERG/RAS-like			18237578		0.383	ENSG00000111404	13022	g.chr12:18237578G>T	signal transduction	membrane	GTP binding|GTPase activity							72.939495	KEEP	14	24	0.368421053	72	57	14	24	0.368421053	83.65597	72	57	0.219178	1	0	0	0	0	1	0	0	0	--	--		0	T			RERGL_uc001rdr.2_Missense_Mutation_p.L69I	107	GBM-06-6391-TP	p.L70I	G	TCACTTGTGAGGGAGAATTTT	NM_024730	NP_079006	18237578	Q9H628	RERGL_HUMAN	0			5	402	-	T	T			Missense_Mutation	70			Small GTPase-like.			
REST	0	broad.mit.edu	GRCh37	4	57797807	57797807	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2519-01	TCGA-27-2519-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309042.7:c.2783C>T	p.Thr928Met	p.T928M	ENST00000309042	NM_005612.4	928	aCg/aTg	0			1			T	T/M	uc003hch.2	protein_coding	YES	CCDS3509.1			2783/3294									skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9	c.(2782-2784)ACG>ATG				RE1-silencing transcription factor				ENSP00000311816		4-Apr	2.47E-05					4.52E-05			rs747423176,COSM3409383	4-Apr	.		ENST00000309042	Transcript			cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	ENSG00000084093	g.chr4:57797807C>T	9966			MODERATE		-1.39	neutral	getma.org/?cm=msa&ty=f&p=REST_HUMAN&rb=442&re=1059&var=T928M	NA	getma.org/?cm=var&var=hg19,4,57797807,C,T&fts=all	T928M	--	--	1																																		REST_uc003hci.2_Missense_Mutation_p.T928M|REST_uc010ihf.2_Missense_Mutation_p.T602M	0,1	1		benign(0)	p.T928M	NM_005612	NP_005603		tolerated(1)	0,1	REST_HUMAN	REST	HGNC	Q13127	REST_HUMAN					4	3130	+	Glioma(25;0.08)|all_neural(26;0.181)		UPI000013FBF6	928					SNV	REST,missense_variant,p.Thr928Met,ENST00000309042,NM_005612.4,NM_001193508.1;REST,downstream_gene_variant,,ENST00000514063,;	uc003hch.2	c.2783C>T	3097/7300	2	2			c.2783C>T						4	SNP	c.(2782-2784)ACG>ATG	48	48			skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9	Broad	RE1-silencing transcription factor			57797807		0.413	ENSG00000084093	13023	g.chr4:57797807C>T	cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding							96.915369	KEEP	10	26	-1	38	41	10	26	-1	99.807669	38	41	0.32381	1	0	0	0	0	1	0	0	0	--	--		0	T			REST_uc003hci.2_Missense_Mutation_p.T928M|REST_uc010ihf.2_Missense_Mutation_p.T602M	199	GBM-27-2519-TP	p.T928M	C	AACTTGAATACGCCAGAGGGT	NM_005612	NP_005603	57797807	Q13127	REST_HUMAN	0			4	3130	+	T	T	Glioma(25;0.08)|all_neural(26;0.181)		Missense_Mutation	928						
REST	0	broad.mit.edu	GRCh37	4	57777086	57777086	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-32-1980-01	TCGA-32-1980-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309042.7:c.282A>G	p.Glu94=	p.E94=	ENST00000309042	NM_005612.4	94	gaA/gaG	0			1			G	E	uc003hch.2	protein_coding	YES	CCDS3509.1			282/3294									skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9	c.(280-282)GAA>GAG			Low_complexity_(Seg):seg,hmmpanther:PTHR10032:SF71,hmmpanther:PTHR10032	RE1-silencing transcription factor				ENSP00000311816		4-Feb									COSM3409382	4-Feb	.		ENST00000309042	Transcript			cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	ENSG00000084093	g.chr4:57777086A>G	9966			LOW								--	--	1																																		REST_uc003hci.2_Silent_p.E94E|REST_uc003hcj.1_Silent_p.E94E|REST_uc010ihf.2_5'UTR	1	1			p.E94E	NM_005612	NP_005603			1	REST_HUMAN	REST	HGNC	Q13127	REST_HUMAN					2	629	+	Glioma(25;0.08)|all_neural(26;0.181)		UPI000013FBF6	94			Interaction with SIN3A.		SNV	REST,synonymous_variant,p.=,ENST00000309042,NM_005612.4,NM_001193508.1;REST,upstream_gene_variant,,ENST00000514063,;REST,downstream_gene_variant,,ENST00000503522,;REST,non_coding_transcript_exon_variant,,ENST00000511065,;	uc003hch.2	c.282A>G	596/7300	4	4			c.282A>G						4	SNP	c.(280-282)GAA>GAG	21	21			skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9	Broad	RE1-silencing transcription factor			57777086		0.458	ENSG00000084093	13023	g.chr4:57777086A>G	cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding							-3.855732	KEEP	2	2	-1	33	35	2	2	-1	10.277314	33	35	0.057971	1	0	0	0	0	0	0	1	0	--	--		0	G			REST_uc003hci.2_Silent_p.E94E|REST_uc003hcj.1_Silent_p.E94E|REST_uc010ihf.2_5'UTR	231	GBM-32-1980-TP	p.E94E	A	AAGGACTTGAAGAGTCTGCTG	NM_005612	NP_005603	57777086	Q13127	REST_HUMAN	0			2	629	+	G	G	Glioma(25;0.08)|all_neural(26;0.181)		Silent	94			Interaction with SIN3A.			
RET	0	broad.mit.edu	GRCh37	10	43604497	43604497	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-19-1390-01	TCGA-19-1390-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355710.3:c.1082A>T	p.Asn361Ile	p.N361I	ENST00000355710	NM_020975.4	361	aAc/aTc	0			1			T	N/I	uc001jal.2	protein_coding	YES	CCDS7200.1		1	1082/3345	T|Mis|N|F	Hirschsprung disease	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma				thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451	c.(1081-1083)AAC>ATC			PIRSF_domain:PIRSF000631,hmmpanther:PTHR24416:SF264,hmmpanther:PTHR24416	ret proto-oncogene isoform a	Sunitinib(DB01268)			ENSP00000347942		20-Jun									COSM3397121,COSM3397122	20-Jun	.	Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma	ENST00000355710	Transcript	1		homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	ENSG00000165731	g.chr10:43604497A>T	9967			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=RET_HUMAN&rb=263&re=462&var=N361I	NA	getma.org/?cm=var&var=hg19,10,43604497,A,T&fts=all	N361I	--	--	1																																		RET_uc001jak.1_Missense_Mutation_p.N361I|RET_uc010qez.1_Missense_Mutation_p.N107I	1,1	1		benign(0.203)	p.N361I	NM_020975	NP_066124		deleterious(0)	1,1	RET_HUMAN	RET	HGNC	P07949	RET_HUMAN			Q9UQV8_HUMAN,Q9UM90_HUMAN,Q9UE13_HUMAN,Q8NFE8_HUMAN,Q8IZR8_HUMAN		6	1272	+		Ovarian(717;0.0423)	UPI00001336E1	361			Extracellular (Potential).		SNV	RET,missense_variant,p.Asn361Ile,ENST00000355710,NM_020975.4;RET,missense_variant,p.Asn361Ile,ENST00000340058,NM_020630.4;RET,intron_variant,,ENST00000498820,;RET,downstream_gene_variant,,ENST00000479913,;	uc001jal.2	c.1082A>T	1314/5659	1	1		1	c.1082A>T	T|Mis|N|F	Hirschsprung disease	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	10	SNP	c.(1081-1083)AAC>ATC	1	1			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451	Broad	ret proto-oncogene isoform a		Sunitinib(DB01268)	43604497	Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma	0.597	ENSG00000165731	13024	g.chr10:43604497A>T	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		536	Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		536	92.248111	KEEP	19	13	-1	22	17	19	13	-1	92.331199	22	17	0.461538	1	0	0	0	0	1	0	0	0	--	--		0	T			RET_uc001jak.1_Missense_Mutation_p.N361I|RET_uc010qez.1_Missense_Mutation_p.N107I	159	GBM-19-1390-TP	p.N361I	A	CTCAACCGGAACCTCTCCATC	NM_020975	NP_066124	43604497	P07949	RET_HUMAN	0			6	1272	+	T	T		Ovarian(717;0.0423)	Missense_Mutation	361			Extracellular (Potential).			
RETN	0	broad.mit.edu	GRCh37	19	7734784	7734784	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-5139-01	TCGA-26-5139-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221515.2:c.196G>A	p.Gly66Ser	p.G66S	ENST00000221515	NM_020415.3	66	Ggc/Agc	0			1			A	G/S	uc002mhf.1	protein_coding	YES	CCDS12182.1			196/327									ovary(1)	1	c.(196-198)GGC>AGC			hmmpanther:PTHR21101,hmmpanther:PTHR21101:SF11,Pfam_domain:PF06954,Superfamily_domains:SSF111423	resistin				ENSP00000221515		4-Mar									COSM2157161	4-Mar	.		ENST00000221515	Transcript					hormone activity	ENSG00000104918	g.chr19:7734784G>A	20389			MODERATE		1.99	medium	getma.org/?cm=msa&ty=f&p=RETN_HUMAN&rb=18&re=106&var=G66S	getma.org/pdb.php?prot=RETN_HUMAN&from=18&to=106&var=G66S	getma.org/?cm=var&var=hg19,19,7734784,G,A&fts=all	G66S	--	--	1																																		RETN_uc002mhg.1_Missense_Mutation_p.G66S|RETN_uc010dvm.1_Intron	1	1		benign(0.212)	p.G66S	NM_020415	NP_065148		deleterious(0.03)	1	RETN_HUMAN	RETN	HGNC	Q9HD89	RETN_HUMAN					3	242	+			UPI00000359F3	66					SNV	RETN,missense_variant,p.Gly66Ser,ENST00000221515,NM_020415.3,NM_001193374.1;RETN,intron_variant,,ENST00000381324,;CTD-3214H19.12,downstream_gene_variant,,ENST00000597285,;	uc002mhf.1	c.196G>A	284/514	1	1			c.196G>A						19	SNP	c.(196-198)GGC>AGC	55	55			ovary(1)	1	Broad	resistin			7734784		0.627	ENSG00000104918	13025	g.chr19:7734784G>A			hormone activity							72.089128	KEEP	13	16	-1	25	38	13	16	-1	75.019222	25	38	0.306818	1	0	0	0	0	1	0	0	0	--	--		0	A			RETN_uc002mhg.1_Missense_Mutation_p.G66S|RETN_uc010dvm.1_Intron	186	GBM-26-5139-TP	p.G66S	G	TTGCCCCCGAGGTGAGTGCAG	NM_020415	NP_065148	7734784	Q9HD89	RETN_HUMAN	0			3	242	+	A	A			Missense_Mutation	66						
REV1	51455	broad.mit.edu	GRCh37	2	100024503	100024507	+	frameshift_variant	Frame_Shift_Del	DEL	TGATA	TGATA	-			TCGA-06-0168-01	TCGA-06-0168-01	TGATA	TGATA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258428.3:c.2432_2436del	p.Ile811ArgfsTer16	p.I811Rfs*16	ENST00000258428	NM_001037872.1	811	aTATCA/a	0			1			-	IS/X	uc002tad.2	protein_coding	YES	CCDS2045.1			2432-2436/3756									ovary(2)	2	c.(2431-2436)ATATCAfs		DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	hmmpanther:PTHR11076,hmmpanther:PTHR11076:SF13,Pfam_domain:PF11799,Gene3D:3.30.1490.100,PIRSF_domain:PIRSF036573,Superfamily_domains:SSF100879	REV1-like isoform 1				ENSP00000258428		15/23										15/23	.		ENST00000258428	Transcript			DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	ENSG00000135945	g.chr2:100024503_100024507delTGATA	14060			HIGH								--	--	1																																		REV1_uc002tac.2_Frame_Shift_Del_p.I810fs		1			p.I811fs	NM_016316	NP_057400				REV1_HUMAN	REV1	HGNC	Q9UBZ9	REV1_HUMAN					15	2644_2648	-			UPI0000073A14	811_812					deletion	REV1,frameshift_variant,p.Ile811ArgfsTer16,ENST00000258428,NM_001037872.1,NM_016316.2;REV1,frameshift_variant,p.Ile810ArgfsTer16,ENST00000393445,;RP11-527J8.1,downstream_gene_variant,,ENST00000608144,;REV1,non_coding_transcript_exon_variant,,ENST00000465835,;REV1,intron_variant,,ENST00000482595,;REV1,frameshift_variant,p.Ile82ArgfsTer97,ENST00000438366,;REV1,3_prime_UTR_variant,,ENST00000413697,;REV1,non_coding_transcript_exon_variant,,ENST00000477121,;REV1,upstream_gene_variant,,ENST00000485487,;REV1,upstream_gene_variant,,ENST00000465086,;REV1,upstream_gene_variant,,ENST00000472000,;	uc002tad.2	c.2432_2436delTATCA	2661-2665/4751	5	5			c.2432_2436delTATCA						2	DEL	c.(2431-2436)ATATCAfs	34	34			ovary(2)	2	Broad	REV1-like isoform 1	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage		100024507		0.346	ENSG00000135945	13028	g.chr2:100024503_100024507delTGATA	DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding																				0.27	1	1	0	1	0	0	0	0	0	--	--		0	-			REV1_uc002tac.2_Frame_Shift_Del_p.I810fs	33	GBM-06-0168-TP	p.I811fs	TGATA	CTCTCATATCTGATATATTTAGTTT	NM_016316	NP_057400	100024503	Q9UBZ9	REV1_HUMAN	0			15	2644_2648	-	-	-			Frame_Shift_Del	811_812						
REV1	51455		GRCh37	2	100065960	100065960	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000258428.3:c.188C>G	p.Ser63Cys	p.S63C	ENST00000258428	NM_001037872.1	63	tCc/tGc	0																																																																																																																																																																																																																																												
REXO1	57455		GRCh37	19	1828079	1828079	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000170168.4:c.709C>T	p.Leu237Phe	p.L237F	ENST00000170168	NM_020695.3	237	Ctc/Ttc	0																																																																																																																																																																																																																																												
REXO1	57455		GRCh37	19	1827919	1827924	+	inframe_deletion	In_Frame_Del	DEL	TCTGAG	TCTGAG	-			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000170168.4:c.864_869del	p.Asp288_Ser289del	p.D288_S289del	ENST00000170168	NM_020695.3	288	gaCTCAGAa/gaa	0																																																																																																																																																																																																																																												
REXO1	57455		GRCh37	19	1827011	1827011	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000170168.4:c.1777G>C	p.Ala593Pro	p.A593P	ENST00000170168	NM_020695.3	593	Gcg/Ccg	0																																																																																																																																																																																																																																												
RFC1	0	broad.mit.edu	GRCh37	4	39306546	39306546	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A			TCGA-12-5295-01	TCGA-12-5295-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381897.1:c.2001G>T	p.Glu667Asp	p.E667D	ENST00000381897	NM_002913.4	667	gaG/gaT	0			1			A	E/D	uc003gty.1	protein_coding	YES	CCDS56329.1			2001/3447									ovary(2)|pancreas(1)|skin(1)	4	c.(1999-2001)GAG>GAT			hmmpanther:PTHR11107,hmmpanther:PTHR11107:SF9,Gene3D:3.40.50.300,Pfam_domain:PF00004,SMART_domains:SM00382,PIRSF_domain:PIRSF036578,Superfamily_domains:SSF52540	replication factor C large subunit				ENSP00000371321		15/25									COSM3409284	15/25	.		ENST00000381897	Transcript			DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	ENSG00000035928	g.chr4:39306546C>A	9969			MODERATE		2.065	medium	getma.org/?cm=msa&ty=f&p=RFC1_HUMAN&rb=647&re=776&var=E667D	getma.org/pdb.php?prot=RFC1_HUMAN&from=647&to=776&var=E667D	getma.org/?cm=var&var=hg19,4,39306546,C,A&fts=all	E667D	--	--	1																																		RFC1_uc003gtx.1_Missense_Mutation_p.E666D	1	1		probably_damaging(0.999)	p.E667D	NM_002913	NP_002904		deleterious(0)	1	RFC1_HUMAN	RFC1	HGNC	P35251	RFC1_HUMAN					15	2135	-			UPI0000167BB4	667					SNV	RFC1,missense_variant,p.Glu667Asp,ENST00000381897,NM_002913.4,NM_001204747.1;RFC1,missense_variant,p.Glu666Asp,ENST00000349703,;RFC1,missense_variant,p.Glu129Asp,ENST00000504554,;RFC1,downstream_gene_variant,,ENST00000502706,;RFC1,upstream_gene_variant,,ENST00000505077,;	uc003gty.1	c.2001G>T	2135/4886	1	1			c.2001G>T						4	SNP	c.(1999-2001)GAG>GAT	61	61			ovary(2)|pancreas(1)|skin(1)	4	Broad	replication factor C large subunit			39306546		0.433	ENSG00000035928	13033	g.chr4:39306546C>A	DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)			Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)			399.6054	KEEP	76	80	0.512820513	139	131	76	80	0.512820513	406.061337	139	131	0.363171	1	0	0	0	0	1	0	0	0	--	--		0	A			RFC1_uc003gtx.1_Missense_Mutation_p.E666D	129	GBM-12-5295-TP	p.E667D	C	TGTATCCCAACTCCTAATCAA	NM_002913	NP_002904	39306546	P35251	RFC1_HUMAN	0			15	2135	-	A	A			Missense_Mutation	667						
RFC4	5984	broad.mit.edu	GRCh37	3	186508171	186508173	+	inframe_deletion	In_Frame_Del	DEL	CAT	CAT	-			TCGA-06-0649-01	TCGA-06-0649-01	CAT	CAT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392481.2:c.824_826del	p.Asp275del	p.D275del	ENST00000392481	NM_181573.2	275	gATGga/gga	0			1			-	DG/G	uc003fqz.2	protein_coding		CCDS3283.1			824-826/1092									breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1)	5	c.(823-828)GATGGA>GGA			hmmpanther:PTHR11669:SF7,hmmpanther:PTHR11669,Pfam_domain:PF08542,Gene3D:1.20.272.10,Superfamily_domains:SSF48019	replication factor C 4				ENSP00000296273		11-Sep	1.65E-05					3.00E-05			rs769831210,COSM2151485	11-Sep	.		ENST00000296273	Transcript			cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	ENSG00000163918	g.chr3:186508171_186508173delCAT	9972			MODERATE								--	--	1																																		RFC4_uc011bsc.1_In_Frame_Del_p.D275del	0,1				p.D275del	NM_002916	NP_002907			0,1	RFC4_HUMAN	RFC4	HGNC	P35249	RFC4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)	F8WE44_HUMAN,C9JXZ7_HUMAN,C9JW34_HUMAN,C9JTT7_HUMAN,C9JGY5_HUMAN,C9J8M3_HUMAN		9	1047_1049	-	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		UPI0000125167	275					deletion	RFC4,inframe_deletion,p.Asp275del,ENST00000392481,NM_181573.2;RFC4,inframe_deletion,p.Asp275del,ENST00000296273,NM_002916.3;RFC4,inframe_deletion,p.Asp50del,ENST00000417876,;RFC4,intron_variant,,ENST00000433496,;EIF4A2,downstream_gene_variant,,ENST00000323963,;EIF4A2,downstream_gene_variant,,ENST00000440191,NM_001967.3;EIF4A2,downstream_gene_variant,,ENST00000356531,;RFC4,downstream_gene_variant,,ENST00000447345,;RFC4,downstream_gene_variant,,ENST00000418288,;EIF4A2,downstream_gene_variant,,ENST00000498746,;RFC4,downstream_gene_variant,,ENST00000427785,;SNORA81,downstream_gene_variant,,ENST00000408493,NR_002989.1;SNORA4,downstream_gene_variant,,ENST00000584302,NR_002588.1;SNORA63,downstream_gene_variant,,ENST00000363450,NR_002586.1;SNORA63,downstream_gene_variant,,ENST00000363548,;RFC4,non_coding_transcript_exon_variant,,ENST00000479307,;EIF4A2,downstream_gene_variant,,ENST00000485101,;EIF4A2,downstream_gene_variant,,ENST00000425053,;EIF4A2,downstream_gene_variant,,ENST00000426808,;EIF4A2,downstream_gene_variant,,ENST00000443963,;RFC4,downstream_gene_variant,,ENST00000494047,;EIF4A2,downstream_gene_variant,,ENST00000468362,;EIF4A2,downstream_gene_variant,,ENST00000465267,;EIF4A2,downstream_gene_variant,,ENST00000429589,;EIF4A2,downstream_gene_variant,,ENST00000492144,;EIF4A2,downstream_gene_variant,,ENST00000475653,;EIF4A2,downstream_gene_variant,,ENST00000497177,;EIF4A2,downstream_gene_variant,,ENST00000475409,;RFC4,downstream_gene_variant,,ENST00000449502,;EIF4A2,downstream_gene_variant,,ENST00000465792,;EIF4A2,downstream_gene_variant,,ENST00000494445,;RFC4,downstream_gene_variant,,ENST00000460408,;EIF4A2,downstream_gene_variant,,ENST00000495049,;EIF4A2,downstream_gene_variant,,ENST00000461021,;EIF4A2,downstream_gene_variant,,ENST00000467585,;EIF4A2,downstream_gene_variant,,ENST00000466362,;RFC4,downstream_gene_variant,,ENST00000489028,;EIF4A2,downstream_gene_variant,,ENST00000496382,;	uc003fqz.2	c.824_826delATG	1047-1049/1384	5	5			c.824_826delATG						3	DEL	c.(823-828)GATGGA>GGA	38	38			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1)	5	Broad	replication factor C 4			186508173		0.424	ENSG00000163918	13036	g.chr3:186508171_186508173delCAT	cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			599			599														0.28	1	1	0	1	0	0	0	0	0	--	--		0	-			RFC4_uc011bsc.1_In_Frame_Del_p.D275del	62	GBM-06-0649-TP	p.D275del	CAT	GCAAATACTCCATCAATTTTCTC	NM_002916	NP_002907	186508171	P35249	RFC4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)	9	1047_1049	-	-	-	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		In_Frame_Del	275						
RFPL1	0	broad.mit.edu	GRCh37	22	29834818	29834818	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1837-01	TCGA-27-1837-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354373.2:c.38C>T	p.Ser13Leu	p.S13L	ENST00000354373	NM_021026.2	13	tCa/tTa	0			1			T	S/L	uc003afn.2	protein_coding	YES	CCDS13857.2			38/954										0	c.(37-39)TCA>TTA				ret finger protein-like 1				ENSP00000346342		2-Jan	8.24E-06							6.07E-05	rs748957165,COSM3405578	2-Jan	.		ENST00000354373	Transcript					zinc ion binding	ENSG00000128250	g.chr22:29834818C>T	9977			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=RFPL1_HUMAN&rb=1&re=57&var=S13L	NA	getma.org/?cm=var&var=hg19,22,29834818,C,T&fts=all	S13L	--	--	1																																		RFPL1S_uc003afm.1_RNA	0,1	1		benign(0.099)	p.S13L	NM_021026	NP_066306		deleterious_low_confidence(0)	0,1	RFPL1_HUMAN	RFPL1	HGNC	O75677	RFPL1_HUMAN					1	247	+			UPI000013CC65	13					SNV	RFPL1,missense_variant,p.Ser13Leu,ENST00000354373,NM_021026.2;RFPL1S,non_coding_transcript_exon_variant,,ENST00000461286,;RFPL1S,downstream_gene_variant,,ENST00000539579,;	uc003afn.2	c.38C>T	247/1496	2	2			c.38C>T						22	SNP	c.(37-39)TCA>TTA	42	42				0	Broad	ret finger protein-like 1			29834818		0.463	ENSG00000128250	13042	g.chr22:29834818C>T			zinc ion binding							146.450092	KEEP	35	26	-1	51	76	35	26	-1	150.937569	51	76	0.331461	1	0	0	0	0	1	0	0	0	--	--		0	T			RFPL1S_uc003afm.1_RNA	196	GBM-27-1837-TP	p.S13L	C	AACAGGCTTTCACCTCACGGA	NM_021026	NP_066306	29834818	O75677	RFPL1_HUMAN	0			1	247	+	T	T			Missense_Mutation	13						
RFPL2	10739	broad.mit.edu	GRCh37	22	32589175	32589175	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0744-01	TCGA-06-0744-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400237.1:c.270C>T	p.Asp90=	p.D90=	ENST00000400237		90	gaC/gaT	0			1			A		uc003amg.3	protein_coding		CCDS54521.1			-/867									skin(1)	1	c.(268-270)GAC>GAT				ret finger protein-like 2 isoform 2				ENSP00000248983		4-Mar									COSM2151614,COSM2151613	4-Mar	.		ENST00000248983	Transcript					zinc ion binding	ENSG00000128253	g.chr22:32589175G>A	9979			MODIFIER								--	--	1																																		RFPL2_uc003ame.3_Silent_p.D29D|RFPL2_uc003amf.3_5'UTR|RFPL2_uc003amh.3_5'UTR	1,1				p.D90D	NM_001098527	NP_001091997			1,1	RFPL2_HUMAN	RFPL2	HGNC	O75678	RFPL2_HUMAN					4	1206	-			UPI0000133802	90					SNV	RFPL2,synonymous_variant,p.=,ENST00000400237,;RFPL2,synonymous_variant,p.=,ENST00000248980,NM_006605.3;RFPL2,5_prime_UTR_variant,,ENST00000400236,NM_001098527.2;RFPL2,5_prime_UTR_variant,,ENST00000248983,NM_001159545.1;RFPL2,non_coding_transcript_exon_variant,,ENST00000489846,;	uc003amg.3	c.270C>T	248/1452	2	2			c.270C>T						22	SNP	c.(268-270)GAC>GAT	31	31			skin(1)	1	Broad	ret finger protein-like 2 isoform 2			32589175		0.478	ENSG00000128253	13043	g.chr22:32589175G>A			zinc ion binding							122.842041	KEEP	32	27	-1	6	9	32	27	-1	126.448312	6	9	0.78	1	0	0	0	0	0	0	1	0	--	--		0	A			RFPL2_uc003ame.3_Silent_p.D29D|RFPL2_uc003amf.3_5'UTR|RFPL2_uc003amh.3_5'UTR	66	GBM-06-0744-TP	p.D90D	G	GTGCAGCCATGTCCACTGCCA	NM_001098527	NP_001091997	32589175	O75678	RFPL2_HUMAN	0			4	1206	-	A	A			Silent	90						
RFPL2	0	broad.mit.edu	GRCh37	22	32586994	32586994	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01	TCGA-28-5208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000248983.4:c.632G>A	p.Arg211His	p.R211H	ENST00000248983	NM_001159545.1	211	cGc/cAc	0			1			T	R/H	uc003amg.3	protein_coding		CCDS54521.1			632/867									skin(1)	1	c.(901-903)CGC>CAC			Pfam_domain:PF00622,Prints_domain:PR01407,PROSITE_profiles:PS50188,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF211,SMART_domains:SM00449,Superfamily_domains:SSF49899	ret finger protein-like 2 isoform 2				ENSP00000248983		4-Apr									COSM3405632,COSM3405631,COSM3405630	4-Apr	.		ENST00000248983	Transcript					zinc ion binding	ENSG00000128253	g.chr22:32586994C>T	9979			MODERATE		1.025	low	getma.org/?cm=msa&ty=f&p=RFPL2_HUMAN&rb=238&re=361&var=R301H	getma.org/pdb.php?prot=RFPL2_HUMAN&from=238&to=361&var=R301H	getma.org/?cm=var&var=hg19,22,32586994,C,T&fts=all	R301H	--	--	1																																		RFPL2_uc003ame.3_Missense_Mutation_p.R240H|RFPL2_uc003amf.3_Missense_Mutation_p.R211H|RFPL2_uc003amh.3_Missense_Mutation_p.R211H	1,1,1			benign(0.001)	p.R301H	NM_001098527	NP_001091997			1,1,1	RFPL2_HUMAN	RFPL2	HGNC	O75678	RFPL2_HUMAN					5	1838	-			UPI0000133802	301			B30.2/SPRY.		SNV	RFPL2,missense_variant,p.Arg211His,ENST00000400236,NM_001098527.2;RFPL2,missense_variant,p.Arg301His,ENST00000400237,;RFPL2,missense_variant,p.Arg240His,ENST00000248980,NM_006605.3;RFPL2,missense_variant,p.Arg211His,ENST00000248983,NM_001159545.1;RFPL2,non_coding_transcript_exon_variant,,ENST00000489846,;	uc003amg.3	c.902G>A	880/1452	2	2			c.902G>A						22	SNP	c.(901-903)CGC>CAC	33	33			skin(1)	1	Broad	ret finger protein-like 2 isoform 2			32586994		0.512	ENSG00000128253	13043	g.chr22:32586994C>T			zinc ion binding							-2.009233	KEEP	2	1	-1	33	35	2	1	-1	6.478102	33	35	0.068182	1	0	0	0	0	1	0	0	0	--	--		0	T			RFPL2_uc003ame.3_Missense_Mutation_p.R240H|RFPL2_uc003amf.3_Missense_Mutation_p.R211H|RFPL2_uc003amh.3_Missense_Mutation_p.R211H	217	GBM-28-5208-TP	p.R301H	C	CTGTAACTTGCGGTCTACGAA	NM_001098527	NP_001091997	32586994	O75678	RFPL2_HUMAN	0			5	1838	-	T	T			Missense_Mutation	301			B30.2/SPRY.			
RFPL2	0	broad.mit.edu	GRCh37	22	32586778	32586778	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000248983.4:c.848G>A	p.Arg283His	p.R283H	ENST00000248983	NM_001159545.1	283	cGt/cAt	0			1			T	R/H	uc003amg.3	protein_coding		CCDS54521.1			848/867									skin(1)	1	c.(1117-1119)CGT>CAT			hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF211	ret finger protein-like 2 isoform 2				ENSP00000248983		4-Apr	8.28E-06					1.58E-05			rs769887594,COSM2157388,COSM2157387,COSM2157386	4-Apr	.		ENST00000248983	Transcript					zinc ion binding	ENSG00000128253	g.chr22:32586778C>T	9979			MODERATE		-1.5	neutral	getma.org/?cm=msa&ty=f&p=RFPL2_HUMAN&rb=332&re=378&var=R373H	NA	getma.org/?cm=var&var=hg19,22,32586778,C,T&fts=all	R373H	--	--	1																																		RFPL2_uc003ame.3_Missense_Mutation_p.R312H|RFPL2_uc003amf.3_Missense_Mutation_p.R283H|RFPL2_uc003amh.3_Missense_Mutation_p.R283H	0,1,1,1			benign(0)	p.R373H	NM_001098527	NP_001091997			0,1,1,1	RFPL2_HUMAN	RFPL2	HGNC	O75678	RFPL2_HUMAN					5	2054	-			UPI0000133802	373					SNV	RFPL2,missense_variant,p.Arg283His,ENST00000400236,NM_001098527.2;RFPL2,missense_variant,p.Arg373His,ENST00000400237,;RFPL2,missense_variant,p.Arg312His,ENST00000248980,NM_006605.3;RFPL2,missense_variant,p.Arg283His,ENST00000248983,NM_001159545.1;RFPL2,non_coding_transcript_exon_variant,,ENST00000489846,;	uc003amg.3	c.1118G>A	1096/1452	2	2			c.1118G>A						22	SNP	c.(1117-1119)CGT>CAT	21	21			skin(1)	1	Broad	ret finger protein-like 2 isoform 2			32586778		0.463	ENSG00000128253	13043	g.chr22:32586778C>T			zinc ion binding							144.820288	KEEP	42	37	-1	146	127	42	37	-1	164.983518	146	127	0.219424	1	0	0	0	0	1	0	0	0	--	--		0	T			RFPL2_uc003ame.3_Missense_Mutation_p.R312H|RFPL2_uc003amf.3_Missense_Mutation_p.R283H|RFPL2_uc003amh.3_Missense_Mutation_p.R283H	246	GBM-32-4211-TP	p.R373H	C	CTCCCCAGGACGGACTGGAGC	NM_001098527	NP_001091997	32586778	O75678	RFPL2_HUMAN	0			5	2054	-	T	T			Missense_Mutation	373						
RFPL3	10738	broad.mit.edu	GRCh37	22	32756314	32756314	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01	TCGA-06-2567-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000249007.4:c.449G>A	p.Gly150Glu	p.G150E	ENST00000249007	NM_001098535.1	150	gGg/gAg	0			1			A	G/E	uc003amj.2	protein_coding	YES	CCDS43011.1			449/954									ovary(1)	1	c.(448-450)GGG>GAG			Prints_domain:PR01407,Superfamily_domains:SSF49899,SMART_domains:SM00589,Pfam_domain:PF13765,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF211,PROSITE_profiles:PS50188	ret finger protein-like 3 isoform 1				ENSP00000249007		2-Feb									COSM3405638,COSM3405637	2-Feb	.		ENST00000249007	Transcript					zinc ion binding	ENSG00000128276	g.chr22:32756314G>A	9980			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=RFPL3_HUMAN&rb=127&re=175&var=G150E	getma.org/pdb.php?prot=RFPL3_HUMAN&from=127&to=175&var=G150E	getma.org/?cm=var&var=hg19,22,32756314,G,A&fts=all	G150E	--	--	1																																		RFPL3_uc010gwn.2_Missense_Mutation_p.G121E|RFPL3S_uc003amk.2_RNA|RFPL3S_uc003aml.2_RNA	1,1	1		probably_damaging(0.985)	p.G150E	NM_001098535	NP_001092005		tolerated(0.08)	1,1	RFPL3_HUMAN	RFPL3	HGNC	O75679	RFPL3_HUMAN					2	654	+			UPI000013CC68	150			B30.2/SPRY.		SNV	RFPL3,missense_variant,p.Gly150Glu,ENST00000249007,NM_001098535.1;RFPL3,missense_variant,p.Gly121Glu,ENST00000397468,NM_006604.2;RFPL3,missense_variant,p.Gly121Glu,ENST00000382088,;RFPL3S,3_prime_UTR_variant,,ENST00000400234,;RFPL3S,3_prime_UTR_variant,,ENST00000382084,;RFPL3S,downstream_gene_variant,,ENST00000577714,;RFPL3S,downstream_gene_variant,,ENST00000382086,;RFPL3S,downstream_gene_variant,,ENST00000461833,;IGLCOR22-2,upstream_gene_variant,,ENST00000605398,;	uc003amj.2	c.449G>A	654/1488	1	1			c.449G>A						22	SNP	c.(448-450)GGG>GAG	56	56			ovary(1)	1	Broad	ret finger protein-like 3 isoform 1			32756314		0.542	ENSG00000128276	13044	g.chr22:32756314G>A			zinc ion binding							-13.792309	KEEP	4	4	-1	66	72	4	4	-1	14.618891	66	72	0.052239	1	0	0	0	0	1	0	0	0	--	--		0	A			RFPL3_uc010gwn.2_Missense_Mutation_p.G121E|RFPL3S_uc003amk.2_RNA|RFPL3S_uc003aml.2_RNA	89	GBM-06-2567-TP	p.G150E	G	GTCCGAAGTGGGCTCATCACA	NM_001098535	NP_001092005	32756314	O75679	RFPL3_HUMAN	0			2	654	+	A	A			Missense_Mutation	150			B30.2/SPRY.			
RFPL3	0	broad.mit.edu	GRCh37	22	32756800	32756800	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01	TCGA-32-4211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000249007.4:c.935G>A	p.Arg312His	p.R312H	ENST00000249007	NM_001098535.1	312	cGt/cAt	0			1			A	R/H	uc003amj.2	protein_coding	YES	CCDS43011.1			935/954									ovary(1)	1	c.(934-936)CGT>CAT			hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF211	ret finger protein-like 3 isoform 1				ENSP00000249007		2-Feb	3.30E-05		8.70E-05	0.000116	0.000151			9.78E-05	rs762512224,COSM370529,COSM370528	2-Feb	.		ENST00000249007	Transcript					zinc ion binding	ENSG00000128276	g.chr22:32756800G>A	9980			MODERATE		-1.39	neutral	getma.org/?cm=msa&ty=f&p=RFPL3_HUMAN&rb=271&re=317&var=R312H	NA	getma.org/?cm=var&var=hg19,22,32756800,G,A&fts=all	R312H	--	--	1																																		RFPL3_uc010gwn.2_Missense_Mutation_p.R283H|RFPL3S_uc003amk.2_RNA|RFPL3S_uc003aml.2_RNA	0,1,1	1		benign(0)	p.R312H	NM_001098535	NP_001092005		tolerated(0.82)	0,1,1	RFPL3_HUMAN	RFPL3	HGNC	O75679	RFPL3_HUMAN					2	1140	+			UPI000013CC68	312					SNV	RFPL3,missense_variant,p.Arg312His,ENST00000249007,NM_001098535.1;RFPL3S,missense_variant,p.Arg80Trp,ENST00000400234,;RFPL3,missense_variant,p.Arg283His,ENST00000397468,NM_006604.2;RFPL3,missense_variant,p.Arg283His,ENST00000382088,;RFPL3S,missense_variant,p.Arg51Trp,ENST00000382084,;RFPL3S,downstream_gene_variant,,ENST00000577714,;RFPL3S,downstream_gene_variant,,ENST00000382086,;RFPL3S,non_coding_transcript_exon_variant,,ENST00000461833,;IGLCOR22-2,upstream_gene_variant,,ENST00000605398,;	uc003amj.2	c.935G>A	1140/1488	1	1			c.935G>A						22	SNP	c.(934-936)CGT>CAT	62	62			ovary(1)	1	Broad	ret finger protein-like 3 isoform 1			32756800		0.458	ENSG00000128276	13044	g.chr22:32756800G>A			zinc ion binding							-20.228262	KEEP	6	2	-1	94	79	6	2	-1	10.282342	94	79	0.043796	1	0	0	0	0	1	0	0	0	--	--		0	A			RFPL3_uc010gwn.2_Missense_Mutation_p.R283H|RFPL3S_uc003amk.2_RNA|RFPL3S_uc003aml.2_RNA	246	GBM-32-4211-TP	p.R312H	G	GCTCCAGTCCGTCCTGGGGAG	NM_001098535	NP_001092005	32756800	O75679	RFPL3_HUMAN	0			2	1140	+	A	A			Missense_Mutation	312						
RFX1	0	broad.mit.edu	GRCh37	19	14104590	14104591	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-12-5301-01	TCGA-12-5301-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254325.4:c.65dupC	p.Pro23AlafsTer85	p.P23Afs*85	ENST00000254325	NM_002918.4	22	ccg/ccCg	0	G:0.0893		1			G	P/PX	uc002mxv.2	protein_coding	YES	CCDS12301.1			65-66/2940									lung(1)|pancreas(1)	2	c.(64-66)CCGfs			Low_complexity_(Seg):seg	regulatory factor X1			G:0.1185	ENSP00000254325		21-Feb									rs368811511	21-Feb	.		ENST00000254325	Transcript			immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	ENSG00000132005	g.chr19:14104590_14104591insG	9982			HIGH								--	--	1																																		RFX1_uc010dzi.2_Frame_Shift_Ins_p.P22fs		1			p.P22fs	NM_002918	NP_002909				RFX1_HUMAN	RFX1	HGNC	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)				2	337_338	-			UPI000013CE29	22					insertion	RFX1,frameshift_variant,p.Pro23AlafsTer85,ENST00000254325,NM_002918.4;RFX1,frameshift_variant,p.Pro23AlafsTer85,ENST00000588885,;RFX1,downstream_gene_variant,,ENST00000586913,;RFX1,non_coding_transcript_exon_variant,,ENST00000589239,;RFX1,non_coding_transcript_exon_variant,,ENST00000589760,;RFX1,intron_variant,,ENST00000589937,;	uc002mxv.2	c.65_66insC	300-301/4332	5	5			c.65_66insC						19	INS	c.(64-66)CCGfs	6	6			lung(1)|pancreas(1)	2	Broad	regulatory factor X1			14104591		0.149	ENSG00000132005	13051	g.chr19:14104590_14104591insG	immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity																				0.12	1	0	0	1	1	0	0	0	0	--	--		0	G			RFX1_uc010dzi.2_Frame_Shift_Ins_p.P22fs	131	GBM-12-5301-TP	p.P22fs	-	gggcttgtggcggggcctgtgg	NM_002918	NP_002909	14104590	P22670	RFX1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		2	337_338	-	G	G			Frame_Shift_Ins	22						
RFX1	0	broad.mit.edu	GRCh37	19	14079442	14079442	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01	TCGA-28-5216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254325.4:c.1667G>A	p.Gly556Glu	p.G556E	ENST00000254325	NM_002918.4	556	gGg/gAg	0			1			T	G/E	uc002mxv.2	protein_coding	YES	CCDS12301.1			1667/2940									lung(1)|pancreas(1)	2	c.(1666-1668)GGG>GAG			hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF23	regulatory factor X1				ENSP00000254325		21-Dec									COSM3403826	21-Dec	.		ENST00000254325	Transcript			immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	ENSG00000132005	g.chr19:14079442C>T	9982			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=RFX1_HUMAN&rb=504&re=703&var=G556E	NA	getma.org/?cm=var&var=hg19,19,14079442,C,T&fts=all	G556E	--	--	1																																			1	1		possibly_damaging(0.694)	p.G556E	NM_002918	NP_002909		deleterious(0.04)	1	RFX1_HUMAN	RFX1	HGNC	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)				12	1939	-			UPI000013CE29	556					SNV	RFX1,missense_variant,p.Gly556Glu,ENST00000254325,NM_002918.4;RFX1,downstream_gene_variant,,ENST00000589239,;RFX1,upstream_gene_variant,,ENST00000588520,;	uc002mxv.2	c.1667G>A	1902/4332	1	1			c.1667G>A						19	SNP	c.(1666-1668)GGG>GAG	11	11			lung(1)|pancreas(1)	2	Broad	regulatory factor X1			14079442		0.662	ENSG00000132005	13051	g.chr19:14079442C>T	immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity							66.831381	KEEP	28	20	-1	39	54	28	20	-1	68.438495	39	54	0.35	1	0	0	0	0	1	0	0	0	--	--		0	T				223	GBM-28-5216-TP	p.G556E	C	CGGCTGCTGCCCCACCGCCAC	NM_002918	NP_002909	14079442	P22670	RFX1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		12	1939	-	T	T			Missense_Mutation	556						
RFX2	5990	broad.mit.edu	GRCh37	19	5997146	5997146	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303657.5:c.1938C>T	p.Asp646=	p.D646=	ENST00000303657	NM_000635.3	646	gaC/gaT	0			1			A	D	uc002meb.2	protein_coding	YES	CCDS12157.1			1938/2172									breast(4)|ovary(1)|skin(1)	6	c.(1936-1938)GAC>GAT			hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF20	regulatory factor X2 isoform a				ENSP00000306335		16/18	3.29E-05		0.000173			3.03E-05			rs774312384,COSM2149573	16/18	.		ENST00000303657	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	ENSG00000087903	g.chr19:5997146G>A	9983			LOW								--	--	1																																		RFX2_uc002mec.2_Silent_p.D621D	0,1	1			p.D646D	NM_000635	NP_000626			0,1	RFX2_HUMAN	RFX2	HGNC	P48378	RFX2_HUMAN			Q75MR3_HUMAN,K7ES56_HUMAN,K7EQY9_HUMAN,K7EQA0_HUMAN,K7ENC9_HUMAN,K7EJE4_HUMAN,K7EJD4_HUMAN,K7EIN5_HUMAN		16	2207	-			UPI000013D4B1	646					SNV	RFX2,synonymous_variant,p.=,ENST00000303657,NM_000635.3;RFX2,synonymous_variant,p.=,ENST00000359161,;RFX2,synonymous_variant,p.=,ENST00000592546,NM_134433.2;CTC-232P5.1,intron_variant,,ENST00000587836,;RFX2,non_coding_transcript_exon_variant,,ENST00000590778,;	uc002meb.2	c.1938C>T	2088/3993	1	1			c.1938C>T						19	SNP	c.(1936-1938)GAC>GAT	56	56			breast(4)|ovary(1)|skin(1)	6	Broad	regulatory factor X2 isoform a			5997146		0.662	ENSG00000087903	13052	g.chr19:5997146G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	Colon(38;171 817 19800 47433 48051)			Colon(38;171 817 19800 47433 48051)			54.84575	KEEP	9	14	-1	36	33	9	14	-1	58.800095	36	33	0.268293	1	0	0	0	0	0	0	1	0	--	--		0	A			RFX2_uc002mec.2_Silent_p.D621D	18	GBM-06-0137-TP	p.D646D	G	ACATGTACTCGTCGTAGAGCA	NM_000635	NP_000626	5997146	P48378	RFX2_HUMAN	0			16	2207	-	A	A			Silent	646						
RFX2	0	broad.mit.edu	GRCh37	19	6007158	6007158	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303657.5:c.1267G>A	p.Ala423Thr	p.A423T	ENST00000303657	NM_000635.3	423	Gcc/Acc	0			1			T	A/T	uc002meb.2	protein_coding	YES	CCDS12157.1			1267/2172									breast(4)|ovary(1)|skin(1)	6	c.(1267-1269)GCC>ACC			hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF20	regulatory factor X2 isoform a				ENSP00000306335		18-Dec	2.47E-05					4.56E-05			rs753097280,COSM3404735	18-Dec	.		ENST00000303657	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	ENSG00000087903	g.chr19:6007158C>T	9983			MODERATE		-0.06	neutral	getma.org/?cm=msa&ty=f&p=RFX2_HUMAN&rb=265&re=464&var=A423T	NA	getma.org/?cm=var&var=hg19,19,6007158,C,T&fts=all	A423T	--	--	1																																		RFX2_uc002mec.2_Missense_Mutation_p.A398T|RFX2_uc002med.1_3'UTR	0,1	1		benign(0.002)	p.A423T	NM_000635	NP_000626		tolerated(0.27)	0,1	RFX2_HUMAN	RFX2	HGNC	P48378	RFX2_HUMAN			Q75MR3_HUMAN,K7ES56_HUMAN,K7EQY9_HUMAN,K7EQA0_HUMAN,K7ENC9_HUMAN,K7EJE4_HUMAN,K7EJD4_HUMAN,K7EIN5_HUMAN		12	1536	-			UPI000013D4B1	423					SNV	RFX2,missense_variant,p.Ala423Thr,ENST00000303657,NM_000635.3;RFX2,missense_variant,p.Ala423Thr,ENST00000359161,;RFX2,missense_variant,p.Ala398Thr,ENST00000592546,NM_134433.2;RFX2,missense_variant,p.Ala86Thr,ENST00000589340,;RFX2,downstream_gene_variant,,ENST00000589742,;RFX2,downstream_gene_variant,,ENST00000586806,;CTC-232P5.1,intron_variant,,ENST00000587836,;RFX2,downstream_gene_variant,,ENST00000592337,;RFX2,downstream_gene_variant,,ENST00000588021,;	uc002meb.2	c.1267G>A	1417/3993	2	2			c.1267G>A						19	SNP	c.(1267-1269)GCC>ACC	21	21			breast(4)|ovary(1)|skin(1)	6	Broad	regulatory factor X2 isoform a			6007158		0.662	ENSG00000087903	13052	g.chr19:6007158C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	Colon(38;171 817 19800 47433 48051)			Colon(38;171 817 19800 47433 48051)			-19.751785	KEEP	0	3	-1	58	67	0	3	-1	6.499029	58	67	0.028037	1	0	0	0	0	1	0	0	0	--	--		0	T			RFX2_uc002mec.2_Missense_Mutation_p.A398T|RFX2_uc002med.1_3'UTR	160	GBM-19-1790-TP	p.A423T	C	GGCAGGACGGCGCCCTCGGGG	NM_000635	NP_000626	6007158	P48378	RFX2_HUMAN	0			12	1536	-	T	T			Missense_Mutation	423						
RFX3	5991	broad.mit.edu	GRCh37	9	3225104	3225104	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs137899630	byFrequency	TCGA-06-1804-01	TCGA-06-1804-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382004.3:c.2188G>A	p.Val730Ile	p.V730I	ENST00000382004	NM_134428.1	730	Gtc/Atc	0	T:0.0005	T:0	1	T:0		T	V/I	uc003zhr.2	protein_coding	YES	CCDS6449.1			2188/2250									ovary(2)|central_nervous_system(1)|pancreas(1)	4	c.(2188-2190)GTC>ATC			hmmpanther:PTHR12619:SF20,hmmpanther:PTHR12619	regulatory factor X3 isoform b		T:0	T:0.0024	ENSP00000371434	T:0.001	18/18	0.00103	0.000192			0.0035	0.00149	0.0011		rs137899630,COSM3413586	18/18	common_variant		ENST00000382004	Transcript		T:0.0002	cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	ENSG00000080298	g.chr9:3225104C>T	9984			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=RFX3_HUMAN&rb=649&re=749&var=V730I	NA	getma.org/?cm=var&var=hg19,9,3225104,C,T&fts=all	V730I	--	--	1																																		RFX3_uc010mhd.2_Missense_Mutation_p.V730I	0,1	1		benign(0.003)	p.V730I	NM_134428	NP_602304	T:0	tolerated_low_confidence(0.41)	0,1	RFX3_HUMAN	RFX3	HGNC	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	F6XM74_HUMAN,F6USP3_HUMAN		18	2500	-			UPI0000070BFB	730					SNV	RFX3,missense_variant,p.Val730Ile,ENST00000382004,NM_134428.1,NM_001282116.1;	uc003zhr.2	c.2188G>A	2500/9307	2	2			c.2188G>A						9	SNP	c.(2188-2190)GTC>ATC	17	17			ovary(2)|central_nervous_system(1)|pancreas(1)	4	Broad	regulatory factor X3 isoform b			3225104		0.478	ENSG00000080298	13053	g.chr9:3225104C>T	cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding							6.315847	KEEP	1	3	-1	7	5	1	3	-1	7.571999	7	5	0.2	1	0	0	0	0	1	0	0	0	--	--		0	T			RFX3_uc010mhd.2_Missense_Mutation_p.V730I	79	GBM-06-1804-TP	p.V730I	C	GTACTTGTGACAATGTGCTCG	NM_134428	NP_602304	3225104	P48380	RFX3_HUMAN	0		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	18	2500	-	T	T			Missense_Mutation	730						
RFX4	5992	broad.mit.edu	GRCh37	12	107126727	107126727	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0211-01	TCGA-06-0211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357881.4:c.1524G>A	p.Leu508=	p.L508=	ENST00000357881	NM_001206691.1	508	ttG/ttA	0			1			A	L	uc001tlr.2	protein_coding		CCDS9106.1			1497/2208									upper_aerodigestive_tract(1)	1	c.(1495-1497)TTG>TTA			hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF15	regulatory factor X4 isoform c				ENSP00000376585		15/18									COSM2150753,COSM2150754,COSM2150752	15/18	.		ENST00000392842	Transcript			transcription, DNA-dependent	nucleus	DNA binding	ENSG00000111783	g.chr12:107126727G>A	9985			LOW								--	--	1																																		RFX4_uc001tls.2_Silent_p.L508L|RFX4_uc001tlt.2_Silent_p.L508L|RFX4_uc001tlv.2_Silent_p.L405L	1,1,1				p.L499L	NM_213594	NP_998759			1,1,1	RFX4_HUMAN	RFX4	HGNC	Q33E94	RFX4_HUMAN			R4GMS3_HUMAN,F8VZC4_HUMAN		15	1563	+			UPI00003677F9	499					SNV	RFX4,synonymous_variant,p.=,ENST00000392842,NM_213594.2;RFX4,synonymous_variant,p.=,ENST00000229387,NM_032491.5;RFX4,synonymous_variant,p.=,ENST00000357881,NM_001206691.1;RP11-144F15.1,intron_variant,,ENST00000551505,;RP11-482D24.3,non_coding_transcript_exon_variant,,ENST00000552415,;RFX4,non_coding_transcript_exon_variant,,ENST00000536688,;RP11-144F15.1,intron_variant,,ENST00000549203,;	uc001tlr.2	c.1497G>A	1911/3955	2	2			c.1497G>A						12	SNP	c.(1495-1497)TTG>TTA	29	29			upper_aerodigestive_tract(1)	1	Broad	regulatory factor X4 isoform c			107126727		0.458	ENSG00000111783	13054	g.chr12:107126727G>A	transcription, DNA-dependent	nucleus	DNA binding							195.188027	KEEP	51	41	-1	73	63	51	41	-1	195.366202	73	63	0.462585	1	0	0	0	0	0	0	1	0	--	--		0	A			RFX4_uc001tls.2_Silent_p.L508L|RFX4_uc001tlt.2_Silent_p.L508L|RFX4_uc001tlv.2_Silent_p.L405L	48	GBM-06-0211-TP	p.L499L	G	AGATCATCTTGACAGAGGCTG	NM_213594	NP_998759	107126727	Q33E94	RFX4_HUMAN	0			15	1563	+	A	A			Silent	499						
RFX4	0	broad.mit.edu	GRCh37	12	107048021	107048021	+	stop_gained	Nonsense_Mutation	SNP	T	T	G			TCGA-14-1043-01	TCGA-14-1043-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392842.1:c.207T>G	p.Tyr69Ter	p.Y69*	ENST00000392842	NM_213594.2	69	taT/taG	0			1			G	Y/*	uc001tlr.2	protein_coding		CCDS9106.1			207/2208									upper_aerodigestive_tract(1)	1	c.(205-207)TAT>TAG			Gene3D:1.10.10.10,Pfam_domain:PF02257,PROSITE_profiles:PS51526,hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF15,Superfamily_domains:SSF46785	regulatory factor X4 isoform c				ENSP00000376585		18-Apr									COSM3398294,COSM3398293	18-Apr	.		ENST00000392842	Transcript			transcription, DNA-dependent	nucleus	DNA binding	ENSG00000111783	g.chr12:107048021T>G	9985			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,12,107048021,T,G&fts=all	Y69*	--	--	1																																		RFX4_uc010swv.1_RNA|RFX4_uc001tls.2_Nonsense_Mutation_p.Y78*|RFX4_uc001tlt.2_Nonsense_Mutation_p.Y78*	1,1				p.Y69*	NM_213594	NP_998759			1,1	RFX4_HUMAN	RFX4	HGNC	Q33E94	RFX4_HUMAN			R4GMS3_HUMAN,F8VZC4_HUMAN		4	273	+			UPI00003677F9	69			|RFX-type winged-helix.		SNV	RFX4,stop_gained,p.Tyr69Ter,ENST00000392842,NM_213594.2;RFX4,stop_gained,p.Tyr78Ter,ENST00000357881,NM_001206691.1;RFX4,stop_gained,p.Tyr14Ter,ENST00000551640,;RFX4,5_prime_UTR_variant,,ENST00000539967,;RFX4,5_prime_UTR_variant,,ENST00000549040,;RP11-144F15.1,intron_variant,,ENST00000551505,;RFX4,stop_gained,p.Tyr78Ter,ENST00000536722,;RFX4,stop_gained,p.Tyr40Ter,ENST00000546882,;RFX4,non_coding_transcript_exon_variant,,ENST00000536688,;RFX4,non_coding_transcript_exon_variant,,ENST00000552773,;RP11-144F15.1,intron_variant,,ENST00000549203,;	uc001tlr.2	c.207T>G	621/3955	5	3			c.207T>G						12	SNP	c.(205-207)TAT>TAG	15	15			upper_aerodigestive_tract(1)	1	Broad	regulatory factor X4 isoform c			107048021		0.468	ENSG00000111783	13054	g.chr12:107048021T>G	transcription, DNA-dependent	nucleus	DNA binding							59.934315	KEEP	15	9	-1	33	45	15	9	-1	65.604006	33	45	0.235955	1	0	0	0	0	0	1	0	0	--	--		0	G			RFX4_uc010swv.1_RNA|RFX4_uc001tls.2_Nonsense_Mutation_p.Y78*|RFX4_uc001tlt.2_Nonsense_Mutation_p.Y78*	143	GBM-14-1043-TP	p.Y69*	T	AGGAGAACTATGAGATTGCAG	NM_213594	NP_998759	107048021	Q33E94	RFX4_HUMAN	0			4	273	+	G	G			Nonsense_Mutation	69			|RFX-type winged-helix.			
RFX4	0	broad.mit.edu	GRCh37	12	107033171	107033172	+	splice_donor_variant	Splice_Site	INS	-	-	T			TCGA-19-2623-01	TCGA-19-2623-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392842.1:c.191+2dupT		p.X64_splice	ENST00000392842	NM_213594.2			0			1			T		uc001tlr.2	protein_coding		CCDS9106.1			191/2208									upper_aerodigestive_tract(1)	1	c.e3+1				regulatory factor X4 isoform c				ENSP00000376585													.		ENST00000392842	Transcript			transcription, DNA-dependent	nucleus	DNA binding	ENSG00000111783	g.chr12:107033171_107033172insT	9985	1		HIGH	17-Mar							--	--	1																																		RFX4_uc010swv.1_Splice_Site|RFX4_uc001tls.2_Splice_Site_p.W73_splice|RFX4_uc001tlt.2_Splice_Site_p.W73_splice					p.W64_splice	NM_213594	NP_998759				RFX4_HUMAN	RFX4	HGNC	Q33E94	RFX4_HUMAN			R4GMS3_HUMAN,F8VZC4_HUMAN		3	257	+			UPI00003677F9						insertion	RFX4,splice_donor_variant,,ENST00000392842,NM_213594.2;RFX4,splice_donor_variant,,ENST00000357881,NM_001206691.1;RFX4,splice_donor_variant,,ENST00000539967,;RFX4,splice_donor_variant,,ENST00000549040,;RP11-144F15.1,intron_variant,,ENST00000551505,;RFX4,splice_donor_variant,,ENST00000536688,;RFX4,splice_donor_variant,,ENST00000552773,;RFX4,splice_donor_variant,,ENST00000536722,;RFX4,splice_donor_variant,,ENST00000546882,;RP11-144F15.1,intron_variant,,ENST00000549203,;	uc001tlr.2	c.191_splice	-/3955	5	5			c.191_splice						12	INS	c.e3+1	24	24			upper_aerodigestive_tract(1)	1	Broad	regulatory factor X4 isoform c			107033172		0.371	ENSG00000111783	13054	g.chr12:107033171_107033172insT	transcription, DNA-dependent	nucleus	DNA binding																				0.2	1	0	0	1	1	0	0	0	1	--	--		0	T			RFX4_uc010swv.1_Splice_Site|RFX4_uc001tls.2_Splice_Site_p.W73_splice|RFX4_uc001tlt.2_Splice_Site_p.W73_splice	163	GBM-19-2623-TP	p.W64_splice	-	CTCTGCAATGGTAAGTTTCCAT	NM_213594	NP_998759	107033171	Q33E94	RFX4_HUMAN	0			3	257	+	T	T			Splice_Site							
RFX6	222546	broad.mit.edu	GRCh37	6	117215161	117215161	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-02-2470-01	TCGA-02-2470-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332958.2:c.578A>C	p.Tyr193Ser	p.Y193S	ENST00000332958	NM_173560.3	193	tAt/tCt	0			1			C	Y/S	uc003pxm.2	protein_coding	YES	CCDS5113.1			578/2787									ovary(1)|pancreas(1)|skin(1)	3	c.(577-579)TAT>TCT			Gene3D:1.10.10.10,Pfam_domain:PF02257,PROSITE_profiles:PS51526,hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF16,Superfamily_domains:SSF46785	regulatory factor X, 6				ENSP00000332208		19-May									COSM2149115	19-May	.		ENST00000332958	Transcript	1		glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	ENSG00000185002	g.chr6:117215161A>C	21478			MODERATE		2.19	medium	getma.org/?cm=msa&ty=f&p=RFX6_HUMAN&rb=190&re=389&var=Y193S	NA	getma.org/?cm=var&var=hg19,6,117215161,A,C&fts=all	Y193S	--	--	1																																			1	1		possibly_damaging(0.703)	p.Y193S	NM_173560	NP_775831		deleterious(0)	1	RFX6_HUMAN	RFX6	HGNC	Q8HWS3	RFX6_HUMAN					5	641	+			UPI00001609BE	193			RFX-type winged-helix.		SNV	RFX6,missense_variant,p.Tyr193Ser,ENST00000332958,NM_173560.3;RFX6,non_coding_transcript_exon_variant,,ENST00000471966,;RFX6,non_coding_transcript_exon_variant,,ENST00000487683,;	uc003pxm.2	c.578A>C	594/3460	4	4			c.578A>C						6	SNP	c.(577-579)TAT>TCT	33	33			ovary(1)|pancreas(1)|skin(1)	3	Broad	regulatory factor X, 6			117215161		0.413	ENSG00000185002	13056	g.chr6:117215161A>C	glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding							117.271915	KEEP	22	20	-1	74	76	22	20	-1	128.639438	74	76	0.227545	1	0	0	0	0	1	0	0	0	--	--		0	C				5	GBM-02-2470-TP	p.Y193S	A	TATCATTACTATGGGATTGGC	NM_173560	NP_775831	117215161	Q8HWS3	RFX6_HUMAN	0			5	641	+	C	C			Missense_Mutation	193			RFX-type winged-helix.			
RFX6	0	broad.mit.edu	GRCh37	6	117246619	117246619	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01	TCGA-12-3652-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332958.2:c.1682C>T	p.Ala561Val	p.A561V	ENST00000332958	NM_173560.3	561	gCg/gTg	0		T:0	1	T:0		T	A/V	uc003pxm.2	protein_coding	YES	CCDS5113.1			1682/2787									ovary(1)|pancreas(1)|skin(1)	3	c.(1681-1683)GCG>GTG			hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF16	regulatory factor X, 6		T:0		ENSP00000332208	T:0.001	16/19	1.65E-05		8.65E-05			1.50E-05			rs201446493,COSM202054	16/19	.		ENST00000332958	Transcript	1	T:0.0002	glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	ENSG00000185002	g.chr6:117246619C>T	21478			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=RFX6_HUMAN&rb=390&re=589&var=A561V	NA	getma.org/?cm=var&var=hg19,6,117246619,C,T&fts=all	A561V	--	--	1																																			0,1	1		probably_damaging(0.946)	p.A561V	NM_173560	NP_775831	T:0	deleterious(0.03)	0,1	RFX6_HUMAN	RFX6	HGNC	Q8HWS3	RFX6_HUMAN					16	1745	+			UPI00001609BE	561					SNV	RFX6,missense_variant,p.Ala561Val,ENST00000332958,NM_173560.3;RFX6,downstream_gene_variant,,ENST00000487683,;	uc003pxm.2	c.1682C>T	1698/3460	2	2			c.1682C>T						6	SNP	c.(1681-1683)GCG>GTG	48	48			ovary(1)|pancreas(1)|skin(1)	3	Broad	regulatory factor X, 6			117246619		0.393	ENSG00000185002	13056	g.chr6:117246619C>T	glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding							238.001357	KEEP	48	41	-1	71	62	48	41	-1	239.718125	71	62	0.401961	1	0	0	0	0	1	0	0	0	--	--		0	T				127	GBM-12-3652-TP	p.A561V	C	TTTCCAGATGCGAGTAAAGCT	NM_173560	NP_775831	117246619	Q8HWS3	RFX6_HUMAN	0			16	1745	+	T	T			Missense_Mutation	561						
RFX6	0	broad.mit.edu	GRCh37	6	117203548	117203548	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-14-0813-01	TCGA-14-0813-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332958.2:c.526delC	p.Leu176SerfsTer2	p.L176Sfs*2	ENST00000332958	NM_173560.3	175	Ccc/cc	0			1			-	P/X	uc003pxm.2	protein_coding	YES	CCDS5113.1			523/2787									ovary(1)|pancreas(1)|skin(1)	3	c.(523-525)CCCfs			Gene3D:1.10.10.10,Pfam_domain:PF02257,PROSITE_profiles:PS51526,hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF16,Superfamily_domains:SSF46785	regulatory factor X, 6				ENSP00000332208		19-Apr									COSM2154722	19-Apr	.		ENST00000332958	Transcript	1		glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	ENSG00000185002	g.chr6:117203548delC	21478	3		HIGH								--	--	1																																			1	1			p.P175fs	NM_173560	NP_775831			1	RFX6_HUMAN	RFX6	HGNC	Q8HWS3	RFX6_HUMAN					4	586	+			UPI00001609BE	175			RFX-type winged-helix.		deletion	RFX6,frameshift_variant,p.Leu176SerfsTer2,ENST00000332958,NM_173560.3;RFX6,upstream_gene_variant,,ENST00000471966,;RFX6,non_coding_transcript_exon_variant,,ENST00000487683,;	uc003pxm.2	c.523delC	539/3460	5	5			c.523delC						6	DEL	c.(523-525)CCCfs	21	21			ovary(1)|pancreas(1)|skin(1)	3	Broad	regulatory factor X, 6			117203548		0.413	ENSG00000185002	13056	g.chr6:117203548delC	glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding																				0.31	1	1	0	1	0	0	0	0	0	--	--		0	-				138	GBM-14-0813-TP	p.P175fs	C	CCAGAAGTTTCCCCTCCTAAC	NM_173560	NP_775831	117203548	Q8HWS3	RFX6_HUMAN	0			4	586	+	-	-			Frame_Shift_Del	175			RFX-type winged-helix.			
RFX6	0	broad.mit.edu	GRCh37	6	117244279	117244279	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs144863251		TCGA-27-1835-01	TCGA-27-1835-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332958.2:c.1447C>A	p.Gln483Lys	p.Q483K	ENST00000332958	NM_173560.3	483	Caa/Aaa	0			1			A	Q/K	uc003pxm.2	protein_coding	YES	CCDS5113.1			1447/2787						not_provided		p.Q483K(1)	ovary(1)|pancreas(1)|skin(1)	3	c.(1447-1449)CAA>AAA			hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF16	regulatory factor X, 6				ENSP00000332208		14/19									rs144863251,COSM106526	14/19	.		ENST00000332958	Transcript	1		glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	ENSG00000185002	g.chr6:117244279C>A	21478			MODERATE		1.32	low	getma.org/?cm=msa&ty=f&p=RFX6_HUMAN&rb=390&re=589&var=Q483K	NA	getma.org/?cm=var&var=hg19,6,117244279,C,A&fts=all	Q483K	--	--	1																																			1,1	1	21499247	possibly_damaging(0.599)	p.Q483K	NM_173560	NP_775831		tolerated(0.23)	1,1	RFX6_HUMAN	RFX6	HGNC	Q8HWS3	RFX6_HUMAN					14	1510	+			UPI00001609BE	483					SNV	RFX6,missense_variant,p.Gln483Lys,ENST00000332958,NM_173560.3;RFX6,non_coding_transcript_exon_variant,,ENST00000487683,;	uc003pxm.2	c.1447C>A	1463/3460	2	2			c.1447C>A						6	SNP	c.(1447-1449)CAA>AAA	21	21		p.Q483K(1)	ovary(1)|pancreas(1)|skin(1)	3	Broad	regulatory factor X, 6			117244279		0.363	ENSG00000185002	13056	g.chr6:117244279C>A	glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding							164.740267	KEEP	28	32	0.533333333	57	65	28	32	0.533333333	168.628645	57	65	0.337349	1	0	0	0	0	1	0	0	0	--	--		0	A				194	GBM-27-1835-TP	p.Q483K	C	GACCAGCAAACAAAATGGAAG	NM_173560	NP_775831	117244279	Q8HWS3	RFX6_HUMAN	0			14	1510	+	A	A			Missense_Mutation	483						
RFX6	0	broad.mit.edu	GRCh37	6	117232121	117232121	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-1753-01	TCGA-28-1753-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332958.2:c.696G>A	p.Ser232=	p.S232=	ENST00000332958	NM_173560.3	232	tcG/tcA	0			1			A	S	uc003pxm.2	protein_coding	YES	CCDS5113.1			696/2787									ovary(1)|pancreas(1)|skin(1)	3	c.(694-696)TCG>TCA			hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF16	regulatory factor X, 6				ENSP00000332208		19-Jul									COSM3410548	19-Jul	.		ENST00000332958	Transcript	1		glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	ENSG00000185002	g.chr6:117232121G>A	21478			LOW								--	--	1																																			1	1			p.S232S	NM_173560	NP_775831			1	RFX6_HUMAN	RFX6	HGNC	Q8HWS3	RFX6_HUMAN					7	759	+			UPI00001609BE	232					SNV	RFX6,synonymous_variant,p.=,ENST00000332958,NM_173560.3;RFX6,non_coding_transcript_exon_variant,,ENST00000471966,;RFX6,non_coding_transcript_exon_variant,,ENST00000487683,;	uc003pxm.2	c.696G>A	712/3460	2	2			c.696G>A						6	SNP	c.(694-696)TCG>TCA	42	42			ovary(1)|pancreas(1)|skin(1)	3	Broad	regulatory factor X, 6			117232121		0.343	ENSG00000185002	13056	g.chr6:117232121G>A	glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding							191.665225	KEEP	42	35	-1	79	67	42	35	-1	195.947091	79	67	0.340314	1	0	0	0	0	0	0	1	0	--	--		0	A				207	GBM-28-1753-TP	p.S232S	G	GTAAATATTCGCTTAGCTCAA	NM_173560	NP_775831	117232121	Q8HWS3	RFX6_HUMAN	0			7	759	+	A	A			Silent	232						
RFX7	64864	broad.mit.edu	GRCh37	15	56435018	56435018	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01	TCGA-06-0158-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000423270.1:c.359C>T	p.Pro120Leu	p.P120L	ENST00000423270	NM_022841.5	120	cCg/cTg	0		A:0	1	A:0.0014		A	P/L	uc010bfn.2	protein_coding					68/4092										0	c.(358-360)CCG>CTG			Gene3D:1.10.10.10,Pfam_domain:PF02257,PROSITE_profiles:PS51526,hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF2,Superfamily_domains:SSF46785	regulatory factor X domain containing 2		A:0		ENSP00000453281	A:0	9-Apr	0.000406		0.0043	0.000118		1.54E-05			rs547205397,COSM3401842,COSM3401841	9-Apr	common_variant		ENST00000559447	Transcript		A:0.0002	regulation of transcription, DNA-dependent	nucleus	DNA binding	ENSG00000181827	g.chr15:56435018G>A	25777			MODERATE		1.525	low	getma.org/?cm=msa&ty=f&p=RFX7_HUMAN&rb=4&re=76&var=P23L	getma.org/pdb.php?prot=RFX7_HUMAN&from=4&to=76&var=P23L	getma.org/?cm=var&var=hg19,15,56435018,G,A&fts=all	P23L	--	--	1																																			0,1,1			probably_damaging(0.989)	p.P120L	NM_022841	NP_073752	A:0	deleterious(0)	0,1,1		RFX7	HGNC	Q2KHR2	RFX7_HUMAN			H0YMH6_HUMAN,H0YLP2_HUMAN		4	359	-			UPI0000DB165F	23			RFX-type winged-helix.		SNV	RFX7,missense_variant,p.Pro120Leu,ENST00000423270,NM_022841.5;RFX7,missense_variant,p.Pro23Leu,ENST00000559447,;RFX7,missense_variant,p.Pro23Leu,ENST00000422057,;RFX7,missense_variant,p.Pro120Leu,ENST00000317318,;RFX7,missense_variant,p.Pro23Leu,ENST00000560792,;RFX7,missense_variant,p.Pro23Leu,ENST00000559847,;	uc010bfn.2	c.359C>T	340/7169	2	2			c.359C>T						15	SNP	c.(358-360)CCG>CTG	28	28				0	Broad	regulatory factor X domain containing 2			56435018		0.388	ENSG00000181827	13057	g.chr15:56435018G>A	regulation of transcription, DNA-dependent	nucleus	DNA binding							73.413249	KEEP	13	12	-1	13	28	13	12	-1	74.128536	13	28	0.383333	1	0	0	0	0	1	0	0	0	--	--		0	A				29	GBM-06-0158-TP	p.P120L	G	TGAAGTCTCCGGATGTTCCTC	NM_022841	NP_073752	56435018	Q2KHR2	RFX7_HUMAN	0			4	359	-	A	A			Missense_Mutation	23			RFX-type winged-helix.			
RFX7	0	broad.mit.edu	GRCh37	15	56386880	56386881	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-16-1045-01	TCGA-16-1045-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000559447.2:c.2754dupC	p.Ser919GlnfsTer4	p.S919Qfs*4	ENST00000559447		918	-/C	0			1			G	-/X	uc010bfn.2	protein_coding					2754-2755/4092										0	c.(3043-3048)CCCAGCfs			hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF2,Low_complexity_(Seg):seg	regulatory factor X domain containing 2				ENSP00000453281		9-Sep	2.48E-05	0.000102							rs753737369,COSM1373675,COSM1373674	9-Sep	.		ENST00000559447	Transcript			regulation of transcription, DNA-dependent	nucleus	DNA binding	ENSG00000181827	g.chr15:56386880_56386881insG	25777			HIGH								--	--	1																																		RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Frame_Shift_Ins_p.P829fs	0,1,1				p.P1015fs	NM_022841	NP_073752			0,1,1		RFX7	HGNC	Q2KHR2	RFX7_HUMAN			H0YMH6_HUMAN,H0YLP2_HUMAN		9	3045_3046	-			UPI0000DB165F	918_919					insertion	RFX7,frameshift_variant,p.Ser1016GlnfsTer4,ENST00000423270,NM_022841.5;RFX7,frameshift_variant,p.Ser919GlnfsTer4,ENST00000559447,;RFX7,frameshift_variant,p.Ser919GlnfsTer4,ENST00000422057,;RFX7,frameshift_variant,p.Ser1016GlnfsTer4,ENST00000317318,;RFX7,frameshift_variant,p.Ser919GlnfsTer4,ENST00000559847,;	uc010bfn.2	c.3045_3046insC	3026-3027/7169	5	5			c.3045_3046insC						15	INS	c.(3043-3048)CCCAGCfs	41	41				0	Broad	regulatory factor X domain containing 2			56386881		0.5	ENSG00000181827	13057	g.chr15:56386880_56386881insG	regulation of transcription, DNA-dependent	nucleus	DNA binding																				0.09	1	0	0	1	1	0	0	0	0	--	--		0	G			RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Frame_Shift_Ins_p.P829fs	157	GBM-16-1045-TP	p.P1015fs	-	TCAACAGGGCTGGGGGGGACAC	NM_022841	NP_073752	56386880	Q2KHR2	RFX7_HUMAN	0			9	3045_3046	-	G	G			Frame_Shift_Ins	918_919						
RFX7	64864		GRCh37	15	56387837	56387837	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000423270.1:c.2089C>A	p.Gln697Lys	p.Q697K	ENST00000423270	NM_022841.5	697	Caa/Aaa	0																																																																																																																																																																																																																																												
RGAG1	0	broad.mit.edu	GRCh37	X	109694565	109694565	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0145-01	TCGA-06-0145-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000465301.2:c.720A>G	p.Glu240=	p.E240=	ENST00000465301	NM_020769.2	240	gaA/gaG	0			1			G	E	uc004eor.1	protein_coding	YES	CCDS14552.1			720/4167									lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4	c.(718-720)GAA>GAG			hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF42	retrotransposon gag domain containing 1				ENSP00000419786		4-Mar										4-Mar	.		ENST00000465301	Transcript						ENSG00000243978	g.chrX:109694565A>G	29245			LOW								--	--	1																																		RGAG1_uc011msr.1_Silent_p.E240E		1			p.E240E	NM_020769	NP_065820				RGAG1_HUMAN	RGAG1	HGNC	Q8NET4	RGAG1_HUMAN			E5RKA1_HUMAN		3	966	+			UPI000006F841	240					SNV	RGAG1,synonymous_variant,p.=,ENST00000465301,NM_020769.2;RGAG1,synonymous_variant,p.=,ENST00000540313,;RGAG1,downstream_gene_variant,,ENST00000520821,;	uc004eor.1	c.720A>G	966/5426	3	3			c.720A>G						23	SNP	c.(718-720)GAA>GAG	16	16			lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4	Broad	retrotransposon gag domain containing 1			109694565		0.468	ENSG00000243978	13063	g.chrX:109694565A>G										297.549991	KEEP	40	47	-1	54	60	40	47	-1	298.355779	54	60	0.431472	1	0	0	0	0	0	0	1	0	--	--		0	G			RGAG1_uc011msr.1_Silent_p.E240E	23	GBM-06-0145-TP	p.E240E	A	AAGACACCGAAGCAATGTCCA	NM_020769	NP_065820	109694565	Q8NET4	RGAG1_HUMAN	0			3	966	+	G	G			Silent	240						
RGAG1	0	broad.mit.edu	GRCh37	X	109694900	109694900	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01	TCGA-06-2564-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000465301.2:c.1055C>T	p.Thr352Met	p.T352M	ENST00000465301	NM_020769.2	352	aCg/aTg	0	T:0		1			T	T/M	uc004eor.1	protein_coding	YES	CCDS14552.1			1055/4167									lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4	c.(1054-1056)ACG>ATG			hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF42	retrotransposon gag domain containing 1			T:0.0003	ENSP00000419786		4-Mar	6.59E-05			0.000151		0.000146			rs200006075,COSM3405844	4-Mar	.		ENST00000465301	Transcript						ENSG00000243978	g.chrX:109694900C>T	29245			MODERATE		0.145	neutral	getma.org/?cm=msa&ty=f&p=RGAG1_HUMAN&rb=341&re=389&var=T352M	NA	getma.org/?cm=var&var=hg19,X,109694900,C,T&fts=all	T352M	--	--	1																																		RGAG1_uc011msr.1_Missense_Mutation_p.T352M	0,1	1		benign(0.12)	p.T352M	NM_020769	NP_065820		tolerated(0.24)	0,1	RGAG1_HUMAN	RGAG1	HGNC	Q8NET4	RGAG1_HUMAN			E5RKA1_HUMAN		3	1301	+			UPI000006F841	352					SNV	RGAG1,missense_variant,p.Thr352Met,ENST00000465301,NM_020769.2;RGAG1,missense_variant,p.Thr352Met,ENST00000540313,;RGAG1,downstream_gene_variant,,ENST00000520821,;	uc004eor.1	c.1055C>T	1301/5426	2	2			c.1055C>T						23	SNP	c.(1054-1056)ACG>ATG	20	20			lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4	Broad	retrotransposon gag domain containing 1			109694900		0.537	ENSG00000243978	13063	g.chrX:109694900C>T										-29.756352	KEEP	10	10	-1	154	184	10	10	-1	37.392181	154	184	0.060241	1	0	0	0	0	1	0	0	0	--	--		0	T			RGAG1_uc011msr.1_Missense_Mutation_p.T352M	87	GBM-06-2564-TP	p.T352M	C	GCACTAATGACGGCCCTACCC	NM_020769	NP_065820	109694900	Q8NET4	RGAG1_HUMAN	0			3	1301	+	T	T			Missense_Mutation	352						
RGAG1	0	broad.mit.edu	GRCh37	X	109694254	109694254	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1991-01	TCGA-32-1991-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000465301.2:c.409G>A	p.Val137Ile	p.V137I	ENST00000465301	NM_020769.2	137	Gta/Ata	0			1			A	V/I	uc004eor.1	protein_coding	YES	CCDS14552.1			409/4167									lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4	c.(409-411)GTA>ATA			hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF42	retrotransposon gag domain containing 1				ENSP00000419786		4-Mar									COSM3405843	4-Mar	.		ENST00000465301	Transcript						ENSG00000243978	g.chrX:109694254G>A	29245			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=RGAG1_HUMAN&rb=60&re=200&var=V137I	NA	getma.org/?cm=var&var=hg19,X,109694254,G,A&fts=all	V137I	--	--	1																																		RGAG1_uc011msr.1_Missense_Mutation_p.V137I	1	1		benign(0.031)	p.V137I	NM_020769	NP_065820		tolerated(0.07)	1	RGAG1_HUMAN	RGAG1	HGNC	Q8NET4	RGAG1_HUMAN			E5RKA1_HUMAN		3	655	+			UPI000006F841	137					SNV	RGAG1,missense_variant,p.Val137Ile,ENST00000465301,NM_020769.2;RGAG1,missense_variant,p.Val137Ile,ENST00000540313,;RGAG1,downstream_gene_variant,,ENST00000520821,;	uc004eor.1	c.409G>A	655/5426	2	2			c.409G>A						23	SNP	c.(409-411)GTA>ATA	41	41			lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4	Broad	retrotransposon gag domain containing 1			109694254		0.502	ENSG00000243978	13063	g.chrX:109694254G>A										486.920212	KEEP	63	107	-1	21	19	63	107	-1	504.151778	21	19	0.81768	1	0	0	0	0	1	0	0	0	--	--		0	A			RGAG1_uc011msr.1_Missense_Mutation_p.V137I	234	GBM-32-1991-TP	p.V137I	G	AGAGTATGGGGTAATGTCCCC	NM_020769	NP_065820	109694254	Q8NET4	RGAG1_HUMAN	0			3	655	+	A	A			Missense_Mutation	137						
RGL1	23179	broad.mit.edu	GRCh37	1	183895313	183895313	+	stop_gained	Nonsense_Mutation	SNP	A	A	T			TCGA-06-0145-01	TCGA-06-0145-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304685.4:c.2299A>T	p.Lys767Ter	p.K767*	ENST00000304685	NM_015149.3	767	Aaa/Taa	0			1			T	K/*	uc001gqo.2	protein_coding					2194/2307									breast(5)|ovary(4)|lung(2)	11	c.(2194-2196)AAA>TAA			Gene3D:3.10.20.90,Pfam_domain:PF00788,PROSITE_profiles:PS50200,SMART_domains:SM00314,Superfamily_domains:SSF54236	ral guanine nucleotide dissociation				ENSP00000354097		18/18									COSM2149721	18/18	.		ENST00000360851	Transcript			cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	ENSG00000143344	g.chr1:183895313A>T	30281			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,183895313,A,T&fts=all	K732*	--	--	1																																		RGL1_uc001gqm.2_Nonsense_Mutation_p.K767*|RGL1_uc010pog.1_Nonsense_Mutation_p.K730*|RGL1_uc010poh.1_Nonsense_Mutation_p.K730*|RGL1_uc010poi.1_Nonsense_Mutation_p.K703*	1				p.K732*	NM_015149	NP_055964			1	RGL1_HUMAN	RGL1	HGNC	Q9NZL6	RGL1_HUMAN					18	2351	+			UPI0000133816	732			Ras-associating.		SNV	RGL1,stop_gained,p.Lys767Ter,ENST00000304685,NM_015149.3;RGL1,stop_gained,p.Lys732Ter,ENST00000360851,;RGL1,stop_gained,p.Lys730Ter,ENST00000536277,;RGL1,stop_gained,p.Lys703Ter,ENST00000539189,;COLGALT2,downstream_gene_variant,,ENST00000546159,;COLGALT2,downstream_gene_variant,,ENST00000486375,;	uc001gqo.2	c.2194A>T	2372/4724	5	2			c.2194A>T						1	SNP	c.(2194-2196)AAA>TAA	23	23			breast(5)|ovary(4)|lung(2)	11	Broad	ral guanine nucleotide dissociation			183895313		0.443	ENSG00000143344	13065	g.chr1:183895313A>T	cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			871			871	138.064109	KEEP	27	31	-1	59	52	27	31	-1	141.465635	59	52	0.34	1	0	0	0	0	0	1	0	0	--	--		0	T			RGL1_uc001gqm.2_Nonsense_Mutation_p.K767*|RGL1_uc010pog.1_Nonsense_Mutation_p.K730*|RGL1_uc010poh.1_Nonsense_Mutation_p.K730*|RGL1_uc010poi.1_Nonsense_Mutation_p.K703*	23	GBM-06-0145-TP	p.K732*	A	CATTTTGCGCAAAAAGAACTC	NM_015149	NP_055964	183895313	Q9NZL6	RGL1_HUMAN	0			18	2351	+	T	T			Nonsense_Mutation	732			Ras-associating.			
RGL1	0	broad.mit.edu	GRCh37	1	183849845	183849845	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-32-2632-01	TCGA-32-2632-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360851.3:c.521A>C	p.Tyr174Ser	p.Y174S	ENST00000360851		174	tAt/tCt	0			1			C	Y/S	uc001gqo.2	protein_coding					521/2307								p.Y209S(2)	breast(5)|ovary(4)|lung(2)	11	c.(520-522)TAT>TCT			Superfamily_domains:0041591,Gene3D:2ii0A01,PROSITE_profiles:PS50212,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF199,SMART_domains:SM00229	ral guanine nucleotide dissociation				ENSP00000354097		18-May									COSM23103,COSM3400087	18-May	.		ENST00000360851	Transcript			cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	ENSG00000143344	g.chr1:183849845A>C	30281			MODERATE		2.2	medium	getma.org/?cm=msa&ty=f&p=RGL1_HUMAN&rb=68&re=174&var=Y174S	getma.org/pdb.php?prot=RGL1_HUMAN&from=68&to=174&var=Y174S	getma.org/?cm=var&var=hg19,1,183849845,A,C&fts=all	Y174S	--	--	1																																		RGL1_uc010pof.1_Intron|RGL1_uc001gqm.2_Missense_Mutation_p.Y209S|RGL1_uc010pog.1_Missense_Mutation_p.Y172S|RGL1_uc010poh.1_Missense_Mutation_p.Y172S|RGL1_uc010poi.1_Missense_Mutation_p.Y174S	1,1			probably_damaging(0.927)	p.Y174S	NM_015149	NP_055964		deleterious(0)	1,1	RGL1_HUMAN	RGL1	HGNC	Q9NZL6	RGL1_HUMAN					5	678	+			UPI0000133816	174		Y -> S (in a breast cancer sample; somatic mutation).	N-terminal Ras-GEF.		SNV	RGL1,missense_variant,p.Tyr209Ser,ENST00000304685,NM_015149.3;RGL1,missense_variant,p.Tyr174Ser,ENST00000360851,;RGL1,missense_variant,p.Tyr172Ser,ENST00000536277,;RGL1,missense_variant,p.Tyr174Ser,ENST00000539189,;	uc001gqo.2	c.521A>C	699/4724	3	3			c.521A>C						1	SNP	c.(520-522)TAT>TCT	11	11		p.Y209S(2)	breast(5)|ovary(4)|lung(2)	11	Broad	ral guanine nucleotide dissociation			183849845		0.498	ENSG00000143344	13065	g.chr1:183849845A>C	cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity		p.Y209S(HCC1395-Tumor)	871		p.Y209S(HCC1395-Tumor)	871	248.806204	KEEP	33	43	-1	39	35	33	43	-1	248.812305	39	35	0.492754	1	0	0	0	0	1	0	0	0	--	--		0	C			RGL1_uc010pof.1_Intron|RGL1_uc001gqm.2_Missense_Mutation_p.Y209S|RGL1_uc010pog.1_Missense_Mutation_p.Y172S|RGL1_uc010poh.1_Missense_Mutation_p.Y172S|RGL1_uc010poi.1_Missense_Mutation_p.Y174S	240	GBM-32-2632-TP	p.Y174S	A	CTGCTGGATTATCTCACACGG	NM_015149	NP_055964	183849845	Q9NZL6	RGL1_HUMAN	0			5	678	+	C	C			Missense_Mutation	174		Y -> S (in a breast cancer sample; somatic mutation).	N-terminal Ras-GEF.			
RGL3	57139	broad.mit.edu	GRCh37	19	11526629	11526629	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0158-01	TCGA-06-0158-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393423.3:c.621G>A	p.Pro207=	p.P207=	ENST00000393423		207	ccG/ccA	0			1			T	P	uc002mrp.2	protein_coding		CCDS32910.1			621/2133									ovary(1)	1	c.(619-621)CCG>CCA			hmmpanther:PTHR23113:SF181,hmmpanther:PTHR23113,Gene3D:2ii0A01,Superfamily_domains:0041591	ral guanine nucleotide dissociation				ENSP00000369823		19-May	5.77E-05	9.64E-05				6.04E-05		0.000128	rs752404115,COSM2150122,COSM3403763	19-May	.		ENST00000380456	Transcript			regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		ENSG00000205517	g.chr19:11526629C>T	30282			LOW								--	--	1																																		RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_5'UTR|RGL3_uc002mro.2_Silent_p.P207P	0,1,1				p.P207P	NM_001035223	NP_001030300			0,1,1	RGL3_HUMAN	RGL3	HGNC	Q3MIN7	RGL3_HUMAN					5	685	-			UPI0000198509	207					SNV	RGL3,synonymous_variant,p.=,ENST00000380456,NM_001035223.2,NM_001161616.1;RGL3,synonymous_variant,p.=,ENST00000393423,;RGL3,synonymous_variant,p.=,ENST00000567431,;CCDC151,downstream_gene_variant,,ENST00000356392,NM_145045.4;CCDC151,downstream_gene_variant,,ENST00000591179,;CCDC151,downstream_gene_variant,,ENST00000545100,;CCDC151,downstream_gene_variant,,ENST00000586836,;RGL3,downstream_gene_variant,,ENST00000567080,;RGL3,downstream_gene_variant,,ENST00000561570,;RGL3,downstream_gene_variant,,ENST00000563436,;RGL3,synonymous_variant,p.=,ENST00000562663,;RGL3,3_prime_UTR_variant,,ENST00000563726,;RGL3,non_coding_transcript_exon_variant,,ENST00000569439,;RGL3,non_coding_transcript_exon_variant,,ENST00000561687,;RGL3,intron_variant,,ENST00000453604,;CCDC151,downstream_gene_variant,,ENST00000591345,;RGL3,upstream_gene_variant,,ENST00000566153,;RGL3,downstream_gene_variant,,ENST00000568420,;	uc002mrp.2	c.621G>A	685/2542	2	2			c.621G>A						19	SNP	c.(619-621)CCG>CCA	46	46			ovary(1)	1	Broad	ral guanine nucleotide dissociation			11526629		0.567	ENSG00000205517	13067	g.chr19:11526629C>T	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		GBM(174;751 2067 17998 27979 33959)		120	GBM(174;751 2067 17998 27979 33959)		120	297.424477	KEEP	68	80	-1	256	264	68	80	-1	334.121365	256	264	0.23049	1	0	0	0	0	0	0	1	0	--	--		0	T			RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_5'UTR|RGL3_uc002mro.2_Silent_p.P207P	29	GBM-06-0158-TP	p.P207P	C	ACACCTGAGGCGGCTCCTCTT	NM_001035223	NP_001030300	11526629	Q3MIN7	RGL3_HUMAN	0			5	685	-	T	T			Silent	207						
RGL3	57139	broad.mit.edu	GRCh37	19	11512738	11512738	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-01	TCGA-06-0190-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393423.3:c.1433C>T	p.Pro478Leu	p.P478L	ENST00000393423		478	cCg/cTg	0			1			A	P/L	uc002mrp.2	protein_coding		CCDS32910.1			1433/2133									ovary(1)	1	c.(1432-1434)CCG>CTG			PROSITE_profiles:PS50009,hmmpanther:PTHR23113:SF181,hmmpanther:PTHR23113,Gene3D:2ii0A02,SMART_domains:SM00147,Superfamily_domains:0041591	ral guanine nucleotide dissociation				ENSP00000369823		13/19	2.47E-05			0.000119		3.21E-05			rs370513538,COSM3403762,COSM3403761,COSM3403760	13/19	.		ENST00000380456	Transcript			regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		ENSG00000205517	g.chr19:11512738G>A	30282			MODERATE		2.59	medium	getma.org/?cm=msa&ty=f&p=RGL3_HUMAN&rb=247&re=505&var=P478L	getma.org/pdb.php?prot=RGL3_HUMAN&from=247&to=505&var=P478L	getma.org/?cm=var&var=hg19,19,11512738,G,A&fts=all	P478L	--	--	1																																		RGL3_uc002mrn.2_Missense_Mutation_p.P242L|RGL3_uc002mrm.2_Missense_Mutation_p.P242L|RGL3_uc002mro.2_Missense_Mutation_p.P478L	0,1,1,1			benign(0.016)	p.P478L	NM_001035223	NP_001030300			0,1,1,1	RGL3_HUMAN	RGL3	HGNC	Q3MIN7	RGL3_HUMAN					13	1497	-			UPI0000198509	478			Ras-GEF.		SNV	RGL3,missense_variant,p.Pro478Leu,ENST00000380456,NM_001035223.2,NM_001161616.1;RGL3,missense_variant,p.Pro478Leu,ENST00000393423,;RGL3,upstream_gene_variant,,ENST00000568628,;RGL3,3_prime_UTR_variant,,ENST00000563726,;RGL3,3_prime_UTR_variant,,ENST00000562663,;RGL3,non_coding_transcript_exon_variant,,ENST00000566153,;RGL3,downstream_gene_variant,,ENST00000453604,;RGL3,downstream_gene_variant,,ENST00000569439,;RGL3,downstream_gene_variant,,ENST00000565895,;RGL3,downstream_gene_variant,,ENST00000561687,;RGL3,downstream_gene_variant,,ENST00000589032,;RGL3,upstream_gene_variant,,ENST00000566919,;	uc002mrp.2	c.1433C>T	1497/2542	2	2			c.1433C>T						19	SNP	c.(1432-1434)CCG>CTG	30	30			ovary(1)	1	Broad	ral guanine nucleotide dissociation			11512738		0.672	ENSG00000205517	13067	g.chr19:11512738G>A	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		GBM(174;751 2067 17998 27979 33959)		120	GBM(174;751 2067 17998 27979 33959)		120	44.144384	KEEP	8	14	-1	40	47	8	14	-1	53.544547	40	47	0.190476	1	0	0	0	0	1	0	0	0	--	--		0	A			RGL3_uc002mrn.2_Missense_Mutation_p.P242L|RGL3_uc002mrm.2_Missense_Mutation_p.P242L|RGL3_uc002mro.2_Missense_Mutation_p.P478L	43	GBM-06-0190-TP	p.P478L	G	CAGGATGGGCGGGTGGGGGCT	NM_001035223	NP_001030300	11512738	Q3MIN7	RGL3_HUMAN	0			13	1497	-	A	A			Missense_Mutation	478			Ras-GEF.			
RGL3	57139		GRCh37	19	11526753	11526753	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000393423.3:c.497C>T	p.Ser166Leu	p.S166L	ENST00000393423		166	tCg/tTg	0																																																																																																																																																																																																																																												
RGL4	266747	broad.mit.edu	GRCh37	22	24040417	24040417	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0745-01	TCGA-06-0745-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290691.5:c.1279G>T	p.Glu427Ter	p.E427*	ENST00000290691	NM_153615.1	427	Gaa/Taa	0			1			T	E/*	uc002zxn.2	protein_coding	YES	CCDS13811.1			1279/1422									ovary(1)	1	c.(1279-1281)GAA>TAA			PROSITE_profiles:PS50009,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF28,Gene3D:2ii0A02,SMART_domains:SM00147,Superfamily_domains:0041591	ral guanine nucleotide dissociation				ENSP00000290691		11-Oct									COSM2151706	11-Oct	.		ENST00000290691	Transcript			small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity	ENSG00000159496	g.chr22:24040417G>T	31911			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,22,24040417,G,T&fts=all	E427*	--	--	1																																		LOC91316_uc002zxk.3_Intron|LOC91316_uc010gua.2_Intron|LOC91316_uc002zxl.3_Intron|LOC91316_uc011aiz.1_Intron|LOC91316_uc002zxm.3_Intron|RGL4_uc002zxo.2_Nonsense_Mutation_p.E427*|RGL4_uc002zxp.1_Nonsense_Mutation_p.E291*|RGL4_uc002zxq.2_Nonsense_Mutation_p.E291*	1	1			p.E427*	NM_153615	NP_705843			1	RGDSR_HUMAN	RGL4	HGNC	Q8IZJ4	RGDSR_HUMAN			B5MCW5_HUMAN		10	2449	+			UPI00000740FE	427			Ras-GEF.		SNV	RGL4,stop_gained,p.Glu427Ter,ENST00000290691,NM_153615.1;RGL4,stop_gained,p.Glu291Ter,ENST00000401461,;RGL4,stop_gained,p.Glu427Ter,ENST00000423392,;RGL4,stop_gained,p.Glu109Ter,ENST00000452208,;RGL4,non_coding_transcript_exon_variant,,ENST00000460167,;GUSBP11,intron_variant,,ENST00000445682,;GUSBP11,intron_variant,,ENST00000451837,;KB-1572G7.2,intron_variant,,ENST00000421064,;GUSBP11,intron_variant,,ENST00000422506,;GUSBP11,intron_variant,,ENST00000452737,;AP000347.2,downstream_gene_variant,,ENST00000432595,;RGL4,3_prime_UTR_variant,,ENST00000441897,;RGL4,non_coding_transcript_exon_variant,,ENST00000467354,;RGL4,non_coding_transcript_exon_variant,,ENST00000460003,;AP000347.2,intron_variant,,ENST00000435868,;	uc002zxn.2	c.1279G>T	2449/2885	5	1			c.1279G>T						22	SNP	c.(1279-1281)GAA>TAA	9	9			ovary(1)	1	Broad	ral guanine nucleotide dissociation			24040417		0.547	ENSG00000159496	13068	g.chr22:24040417G>T	small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			238			238	27.641986	KEEP	6	6	0.5	15	8	6	6	0.5	28.041035	15	8	0.37037	1	0	0	0	0	0	1	0	0	--	--		0	T			LOC91316_uc002zxk.3_Intron|LOC91316_uc010gua.2_Intron|LOC91316_uc002zxl.3_Intron|LOC91316_uc011aiz.1_Intron|LOC91316_uc002zxm.3_Intron|RGL4_uc002zxo.2_Nonsense_Mutation_p.E427*|RGL4_uc002zxp.1_Nonsense_Mutation_p.E291*|RGL4_uc002zxq.2_Nonsense_Mutation_p.E291*	67	GBM-06-0745-TP	p.E427*	G	AGTTCTGCAGGAAATGCAGCT	NM_153615	NP_705843	24040417	Q8IZJ4	RGDSR_HUMAN	0			10	2449	+	T	T			Nonsense_Mutation	427			Ras-GEF.			
RGL4	0	broad.mit.edu	GRCh37	22	24034585	24034585	+	synonymous_variant	Silent	SNP	G	G	A	rs141395325	byFrequency	TCGA-76-6282-01	TCGA-76-6282-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290691.5:c.243G>A	p.Pro81=	p.P81=	ENST00000290691	NM_153615.1	81	ccG/ccA	0	A:0		1			A	P	uc002zxn.2	protein_coding	YES	CCDS13811.1			243/1422									ovary(1)	1	c.(241-243)CCG>CCA			hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF28,Superfamily_domains:0041591	ral guanine nucleotide dissociation			A:0.0003	ENSP00000290691		11-Feb	6.59E-05			0.000116		0.000105			rs141395325,COSM3405545	11-Feb	.		ENST00000290691	Transcript			small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity	ENSG00000159496	g.chr22:24034585G>A	31911			LOW								--	--	1																																		LOC91316_uc002zxh.3_RNA|LOC91316_uc002zxi.3_RNA|LOC91316_uc002zxk.3_Intron|LOC91316_uc010gua.2_Intron|LOC91316_uc002zxl.3_Intron|LOC91316_uc011aiz.1_Intron|LOC91316_uc002zxm.3_Intron|RGL4_uc002zxo.2_Silent_p.P81P|RGL4_uc002zxp.1_5'UTR|RGL4_uc002zxq.2_5'UTR	0,1	1			p.P81P	NM_153615	NP_705843			0,1	RGDSR_HUMAN	RGL4	HGNC	Q8IZJ4	RGDSR_HUMAN			B5MCW5_HUMAN		2	1413	+			UPI00000740FE	81					SNV	RGL4,synonymous_variant,p.=,ENST00000290691,NM_153615.1;RGL4,synonymous_variant,p.=,ENST00000423392,;RGL4,5_prime_UTR_variant,,ENST00000401461,;RGL4,upstream_gene_variant,,ENST00000452208,;AP000347.2,non_coding_transcript_exon_variant,,ENST00000417194,;GUSBP11,non_coding_transcript_exon_variant,,ENST00000455485,;GUSBP11,intron_variant,,ENST00000445682,;GUSBP11,intron_variant,,ENST00000451837,;KB-1572G7.2,intron_variant,,ENST00000421064,;GUSBP11,intron_variant,,ENST00000422506,;GUSBP11,intron_variant,,ENST00000452737,;AP000347.2,upstream_gene_variant,,ENST00000451919,;KB-1572G7.2,upstream_gene_variant,,ENST00000423913,;AP000347.2,upstream_gene_variant,,ENST00000438858,;AP000347.2,upstream_gene_variant,,ENST00000437862,;GUSBP11,upstream_gene_variant,,ENST00000608454,;AP000347.2,upstream_gene_variant,,ENST00000458554,;RGL4,synonymous_variant,p.=,ENST00000441897,;RGL4,non_coding_transcript_exon_variant,,ENST00000467354,;RGL4,non_coding_transcript_exon_variant,,ENST00000460003,;AP000347.2,intron_variant,,ENST00000435868,;	uc002zxn.2	c.243G>A	1413/2885	2	2			c.243G>A						22	SNP	c.(241-243)CCG>CCA	34	34			ovary(1)	1	Broad	ral guanine nucleotide dissociation			24034585		0.552	ENSG00000159496	13068	g.chr22:24034585G>A	small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			238			238	141.344227	KEEP	19	36	-1	48	65	19	36	-1	145.309004	48	65	0.33121	1	0	0	0	0	0	0	1	0	--	--		0	A			LOC91316_uc002zxh.3_RNA|LOC91316_uc002zxi.3_RNA|LOC91316_uc002zxk.3_Intron|LOC91316_uc010gua.2_Intron|LOC91316_uc002zxl.3_Intron|LOC91316_uc011aiz.1_Intron|LOC91316_uc002zxm.3_Intron|RGL4_uc002zxo.2_Silent_p.P81P|RGL4_uc002zxp.1_5'UTR|RGL4_uc002zxq.2_5'UTR	278	GBM-76-6282-TP	p.P81P	G	ATCAGCCCCCGCAACGGTCAT	NM_153615	NP_705843	24034585	Q8IZJ4	RGDSR_HUMAN	0			2	1413	+	A	A			Silent	81						
RGMB	0	broad.mit.edu	GRCh37	5	98128833	98128833	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-76-6192-01	TCGA-76-6192-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000513185.1:c.690A>G	p.Lys230=	p.K230=	ENST00000513185		230	aaA/aaG	0			1			G	K	uc003knc.2	protein_coding					690/1314										0	c.(811-813)AAA>AAG			hmmpanther:PTHR31428,hmmpanther:PTHR31428:SF5,Pfam_domain:PF06534	RGM domain family, member B				ENSP00000423256		3-Mar									COSM3410493	3-Mar	.		ENST00000513185	Transcript			axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding	ENSG00000174136	g.chr5:98128833A>G	26896			LOW								--	--	1																																			1				p.K271K	NM_001012761	NP_001012779			1	RGMB_HUMAN	RGMB	HGNC	Q6NW40	RGMB_HUMAN		COAD - Colon adenocarcinoma(37;0.0587)			5	1215	+		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)	UPI000004CF9B	230					SNV	RGMB,synonymous_variant,p.=,ENST00000308234,NM_001012761.2;RGMB,synonymous_variant,p.=,ENST00000513185,;RGMB,intron_variant,,ENST00000508978,;	uc003knc.2	c.813A>G	1126/2052	3	3			c.813A>G						5	SNP	c.(811-813)AAA>AAG	51	51				0	Broad	RGM domain family, member B			98128833		0.527	ENSG00000174136	13070	g.chr5:98128833A>G	axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding							11.222471	KEEP	3	3	-1	24	16	3	3	-1	15.92172	24	16	0.15	1	0	0	0	0	0	0	1	0	--	--		0	G				275	GBM-76-6192-TP	p.K271K	A	CAGATCAGAAAGTCTACCAAG	NM_001012761	NP_001012779	98128833	Q6NW40	RGMB_HUMAN	0		COAD - Colon adenocarcinoma(37;0.0587)	5	1215	+	G	G		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)	Silent	230						
RGN	9104	broad.mit.edu	GRCh37	X	46951551	46951551	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0241-01	TCGA-06-0241-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397180.1:c.786C>G	p.Cys262Trp	p.C262W	ENST00000397180	NM_152869.2	262	tgC/tgG	0			1			G	C/W	uc004dgz.1	protein_coding		CCDS14272.1			786/900										0	c.(784-786)TGC>TGG			Gene3D:2.120.10.30,Pfam_domain:PF08450,Prints_domain:PR01790,hmmpanther:PTHR10907,hmmpanther:PTHR10907:SF52,Superfamily_domains:SSF63829	regucalcin				ENSP00000338400		7-Jun									COSM2151112	7-Jun	.		ENST00000336169	Transcript			cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding	ENSG00000130988	g.chrX:46951551C>G	9989			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=RGN_HUMAN&rb=16&re=264&var=C262W	getma.org/pdb.php?prot=RGN_HUMAN&from=16&to=264&var=C262W	getma.org/?cm=var&var=hg19,X,46951551,C,G&fts=all	C262W	--	--	1																																		RGN_uc004dha.1_Missense_Mutation_p.C262W|RGN_uc010nho.1_Missense_Mutation_p.C209W|RGN_uc010nhp.1_Missense_Mutation_p.C190W	1			probably_damaging(0.948)	p.C262W	NM_152869	NP_690608		deleterious(0)	1	RGN_HUMAN	RGN	HGNC	Q15493	RGN_HUMAN					7	1755	+			UPI0000135A59	262					SNV	RGN,missense_variant,p.Cys262Trp,ENST00000397180,NM_152869.2;RGN,missense_variant,p.Cys190Trp,ENST00000457380,NM_001282849.1;RGN,missense_variant,p.Cys262Trp,ENST00000352078,NM_004683.4;RGN,missense_variant,p.Cys262Trp,ENST00000336169,;RNU6-1189P,downstream_gene_variant,,ENST00000383958,;RGN,non_coding_transcript_exon_variant,,ENST00000475448,;	uc004dgz.1	c.786C>G	879/1356	3	3			c.786C>G						23	SNP	c.(784-786)TGC>TGG	60	60				0	Broad	regucalcin			46951551		0.468	ENSG00000130988	13071	g.chrX:46951551C>G	cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding							47.541434	KEEP	4	10	-1	9	17	4	10	-1	48.223487	9	17	0.358974	1	0	0	0	0	1	0	0	0	--	--		0	G			RGN_uc004dha.1_Missense_Mutation_p.C262W|RGN_uc010nho.1_Missense_Mutation_p.C209W|RGN_uc010nhp.1_Missense_Mutation_p.C190W	57	GBM-06-0241-TP	p.C262W	C	ATGTGACCTGCGCCCGGGATG	NM_152869	NP_690608	46951551	Q15493	RGN_HUMAN	0			7	1755	+	G	G			Missense_Mutation	262						
RGPD4	285190		GRCh37	2	108476261	108476261	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000408999.3:c.1718C>T	p.Pro573Leu	p.P573L	ENST00000408999	NM_182588.2	573	cCt/cTt	0																																																																																																																																																																																																																																												
RGPD8	727851		GRCh37	2	113127775	113127775	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000302558.3:c.5278C>G	p.Pro1760Ala	p.P1760A	ENST00000302558	NM_001164463.1	1760	Cct/Gct	0																																																																																																																																																																																																																																												
RGR	5995	broad.mit.edu	GRCh37	10	86017694	86017694	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6389-01	TCGA-06-6389-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359452.4:c.688C>T	p.Pro230Ser	p.P230S	ENST00000359452	NM_002921.3	230	Ccc/Tcc	0			1			T	P/S	uc001kdc.1	protein_coding	YES	CCDS7374.1			688/888									ovary(1)	1	c.(676-678)CCC>TCC			Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF32,PROSITE_profiles:PS50262	retinal G-protein coupled receptor isoform 2				ENSP00000352427		7-Jun									COSM2153424	7-Jun	.		ENST00000359452	Transcript	1		phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding	ENSG00000148604	g.chr10:86017694C>T	9990			MODERATE		3.155	medium	getma.org/?cm=msa&ty=f&p=RGR_HUMAN&rb=33&re=265&var=P226S	getma.org/pdb.php?prot=RGR_HUMAN&from=33&to=265&var=P226S	getma.org/?cm=var&var=hg19,10,86017694,C,T&fts=all	P226S	--	--	1																																		RGR_uc001kdd.1_Missense_Mutation_p.P230S|RGR_uc001kde.1_Intron	1	1		probably_damaging(1)	p.P226S	NM_001012720	NP_001012738		deleterious(0)	1	RGR_HUMAN	RGR	HGNC	P47804	RGR_HUMAN					6	714	+			UPI0000072293	226			Helical; Name=6; (Potential).		SNV	RGR,missense_variant,p.Pro230Ser,ENST00000359452,NM_002921.3,NM_001012720.1;RGR,intron_variant,,ENST00000358110,NM_001012722.1;RGR,non_coding_transcript_exon_variant,,ENST00000479725,;RGR,non_coding_transcript_exon_variant,,ENST00000483660,;RGR,intron_variant,,ENST00000478727,;RGR,downstream_gene_variant,,ENST00000497161,;RGR,downstream_gene_variant,,ENST00000483744,;RGR,non_coding_transcript_exon_variant,,ENST00000483771,;	uc001kdc.1	c.676C>T	726/2247	2	2			c.676C>T						10	SNP	c.(676-678)CCC>TCC	17	17			ovary(1)	1	Broad	retinal G-protein coupled receptor isoform 2			86017694		0.542	ENSG00000148604	13074	g.chr10:86017694C>T	phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding	NSCLC(15;204 545 5889 6385 32445)			NSCLC(15;204 545 5889 6385 32445)			55.799991	KEEP	11	12	-1	25	29	11	12	-1	57.595294	25	29	0.316667	1	0	0	0	0	1	0	0	0	--	--		0	T			RGR_uc001kdd.1_Missense_Mutation_p.P230S|RGR_uc001kde.1_Intron	105	GBM-06-6389-TP	p.P226S	C	CGGCTGGGGCCCCTATGCCAT	NM_001012720	NP_001012738	86017694	P47804	RGR_HUMAN	0			6	714	+	T	T			Missense_Mutation	226			Helical; Name=6; (Potential).			
RGS1	5996	broad.mit.edu	GRCh37	1	192547487	192547487	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0126-01	TCGA-06-0126-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367459.3:c.416C>G	p.Ala139Gly	p.A139G	ENST00000367459	NM_002922.3	139	gCa/gGa	0			1			G	A/G	uc001gsi.1	protein_coding	YES	CCDS1375.2			416/630										0	c.(415-417)GCA>GGA			Gene3D:1.10.167.10,Pfam_domain:PF00615,Prints_domain:PR01301,PROSITE_profiles:PS50132,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF34,SMART_domains:SM00315,Superfamily_domains:SSF48097	regulator of G-protein signalling 1				ENSP00000356429		5-Apr									COSM2149395,COSM2149394,COSM3400131	5-Apr	.		ENST00000367459	Transcript			immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	ENSG00000090104	g.chr1:192547487C>G	9991			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=RGS1_HUMAN&rb=85&re=199&var=A139G	getma.org/pdb.php?prot=RGS1_HUMAN&from=85&to=199&var=A139G	getma.org/?cm=var&var=hg19,1,192547487,C,G&fts=all	A139G	--	--	1																																		RGS1_uc010pou.1_Missense_Mutation_p.A139G	1,1,1	1		benign(0.11)	p.A139G	NM_002922	NP_002913		deleterious(0.01)	1,1,1	RGS1_HUMAN	RGS1	HGNC	Q08116	RGS1_HUMAN					4	482	+		Breast(1374;0.188)	UPI0000169CF2	139			RGS.		SNV	RGS1,missense_variant,p.Ala139Gly,ENST00000367459,NM_002922.3;RGS1,missense_variant,p.Ala139Gly,ENST00000469578,;RGS1,non_coding_transcript_exon_variant,,ENST00000498352,;RGS1,downstream_gene_variant,,ENST00000474373,;RGS1,downstream_gene_variant,,ENST00000583155,;RGS1,downstream_gene_variant,,ENST00000462589,;	uc001gsi.1	c.416C>G	482/1405	3	3			c.416C>G						1	SNP	c.(415-417)GCA>GGA	61	61				0	Broad	regulator of G-protein signalling 1			192547487		0.343	ENSG00000090104	13075	g.chr1:192547487C>G	immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity							263.63296	KEEP	41	43	-1	67	36	41	43	-1	264.057841	67	36	0.445783	1	0	0	0	0	1	0	0	0	--	--		0	G			RGS1_uc010pou.1_Missense_Mutation_p.A139G	13	GBM-06-0126-TP	p.A139G	C	ATATATAAAGCATTTGTGCAT	NM_002922	NP_002913	192547487	Q08116	RGS1_HUMAN	0			4	482	+	G	G		Breast(1374;0.188)	Missense_Mutation	139			RGS.			
RGS12	0	broad.mit.edu	GRCh37	4	3319669	3319669	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6191-01	TCGA-76-6191-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336727.3:c.1772C>T	p.Ala591Val	p.A591V	ENST00000336727	NM_002926.3	591	gCg/gTg	0			1			T	A/V	uc003ggw.2	protein_coding		CCDS3367.1			1772/4131									skin(1)	1	c.(1771-1773)GCG>GTG			hmmpanther:PTHR10845:SF149,hmmpanther:PTHR10845	regulator of G-protein signalling 12 isoform 1				ENSP00000338509		17-Feb	8.24E-06							6.07E-05	rs768591229	17-Feb	.		ENST00000336727	Transcript				condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	ENSG00000159788	g.chr4:3319669C>T	9994			MODERATE		1.43	low	getma.org/?cm=msa&ty=f&p=RGS12_HUMAN&rb=451&re=669&var=A591V	NA	getma.org/?cm=var&var=hg19,4,3319669,C,T&fts=all	A591V	--	--	1																																		RGS12_uc003ggu.2_Missense_Mutation_p.A591V|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.A591V|RGS12_uc003ggx.1_Missense_Mutation_p.A591V				benign(0.009)	p.A591V	NM_198229	NP_937872		tolerated(0.37)		RGS12_HUMAN	RGS12	HGNC	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	Q69YN1_HUMAN,Q56A82_HUMAN,E9PBG5_HUMAN		2	2676	+			UPI000002B264	591					SNV	RGS12,missense_variant,p.Ala591Val,ENST00000336727,NM_002926.3;RGS12,missense_variant,p.Ala591Val,ENST00000382788,;RGS12,missense_variant,p.Ala591Val,ENST00000344733,NM_198229.2;RGS12,missense_variant,p.Ala591Val,ENST00000543385,;RGS12,upstream_gene_variant,,ENST00000511805,;RP11-357G3.2,downstream_gene_variant,,ENST00000600073,;RGS12,missense_variant,p.Ala591Val,ENST00000514268,;RGS12,non_coding_transcript_exon_variant,,ENST00000502947,;RGS12,intron_variant,,ENST00000506631,;	uc003ggw.2	c.1772C>T	2676/6240	2	2			c.1772C>T						4	SNP	c.(1771-1773)GCG>GTG	41	41			skin(1)	1	Broad	regulator of G-protein signalling 12 isoform 1			3319669		0.577	ENSG00000159788	13078	g.chr4:3319669C>T		condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity							211.814554	KEEP	37	44	-1	44	61	37	44	-1	212.439945	44	61	0.433735	1	0	0	0	0	1	0	0	0	--	--		0	T			RGS12_uc003ggu.2_Missense_Mutation_p.A591V|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.A591V|RGS12_uc003ggx.1_Missense_Mutation_p.A591V	274	GBM-76-6191-TP	p.A591V	C	GGCAGCTTCGCGCAGCCCCCG	NM_198229	NP_937872	3319669	O14924	RGS12_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	2	2676	+	T	T			Missense_Mutation	591						
RGS14	10636	broad.mit.edu	GRCh37	5	176795734	176795734	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0876-01	TCGA-06-0876-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408923.3:c.866T>C	p.Leu289Pro	p.L289P	ENST00000408923	NM_006480.4	289	cTt/cCt	0			1			C	L/P	uc003mgf.2	protein_coding	YES	CCDS43405.1			866/1701									lung(1)	1	c.(865-867)CTT>CCT			hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF136	regulator of G-protein signalling 14				ENSP00000386229		15-Sep	8.26E-06					1.50E-05			rs775508379,COSM2152089	15-Sep	.		ENST00000408923	Transcript			chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity	ENSG00000169220	g.chr5:176795734T>C	9996			MODERATE		1.78	low	getma.org/?cm=msa&ty=f&p=RGS14_HUMAN&rb=184&re=301&var=L289P	NA	getma.org/?cm=var&var=hg19,5,176795734,T,C&fts=all	L289P	4.39	high	1																																OREG0017086	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	RGS14_uc003mgg.1_Missense_Mutation_p.L136P|RGS14_uc003mgh.2_Missense_Mutation_p.L136P|RGS14_uc003mgi.2_Missense_Mutation_p.L59P|RGS14_uc003mgj.2_5'Flank	0,1	1		benign(0.033)	p.L289P	NM_006480	NP_006471		tolerated(0.3)	0,1	RGS14_HUMAN	RGS14	HGNC	O43566	RGS14_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)				9	1048	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	UPI0000163BE6	289					SNV	RGS14,missense_variant,p.Leu289Pro,ENST00000408923,NM_006480.4;RGS14,missense_variant,p.Leu159Pro,ENST00000511890,;RGS14,non_coding_transcript_exon_variant,,ENST00000503110,;RGS14,upstream_gene_variant,,ENST00000506944,;RGS14,non_coding_transcript_exon_variant,,ENST00000425155,;RGS14,non_coding_transcript_exon_variant,,ENST00000514713,;RGS14,non_coding_transcript_exon_variant,,ENST00000512490,;RGS14,upstream_gene_variant,,ENST00000514102,;RGS14,downstream_gene_variant,,ENST00000504631,;RGS14,downstream_gene_variant,,ENST00000512000,;RGS14,upstream_gene_variant,,ENST00000502731,;RGS14,upstream_gene_variant,,ENST00000503044,;RGS14,upstream_gene_variant,,ENST00000509289,;	uc003mgf.2	c.866T>C	1054/2415	3	3			c.866T>C						5	SNP	c.(865-867)CTT>CCT	54	54			lung(1)	1	Broad	regulator of G-protein signalling 14			176795734		0.582	ENSG00000169220	13080	g.chr5:176795734T>C	chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity	NSCLC(47;353 1896 28036)			NSCLC(47;353 1896 28036)			90.004847	KEEP	15	16	-1	28	35	15	16	-1	91.633282	28	35	0.346154	1	0	0	0	0	1	0	0	0	4.39	high		0	C	OREG0017086	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	RGS14_uc003mgg.1_Missense_Mutation_p.L136P|RGS14_uc003mgh.2_Missense_Mutation_p.L136P|RGS14_uc003mgi.2_Missense_Mutation_p.L59P|RGS14_uc003mgj.2_5'Flank	72	GBM-06-0876-TP	p.L289P	T	CGGAAGAGCCTTGGGAGCACG	NM_006480	NP_006471	176795734	O43566	RGS14_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1048	+	C	C	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Missense_Mutation	289						
RGS14	0	broad.mit.edu	GRCh37	5	176794018	176794018	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-19-2619-01	TCGA-19-2619-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408923.3:c.466C>A	p.Arg156=	p.R156=	ENST00000408923	NM_006480.4	156	Cgg/Agg	0			1			A	R	uc003mgf.2	protein_coding	YES	CCDS43405.1			466/1701									lung(1)	1	c.(466-468)CGG>AGG			PROSITE_profiles:PS50132,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF136,Gene3D:1.10.167.10,Pfam_domain:PF00615,SMART_domains:SM00315,Superfamily_domains:SSF48097	regulator of G-protein signalling 14				ENSP00000386229		15-May									COSM3410165	15-May	.		ENST00000408923	Transcript			chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity	ENSG00000169220	g.chr5:176794018C>A	9996			LOW								--	--	1																																		RGS14_uc003mgg.1_Silent_p.R3R|RGS14_uc003mgh.2_Silent_p.R3R|RGS14_uc003mgi.2_5'Flank	1	1			p.R156R	NM_006480	NP_006471			1	RGS14_HUMAN	RGS14	HGNC	O43566	RGS14_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)				5	648	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	UPI0000163BE6	156			RGS.		SNV	RGS14,synonymous_variant,p.=,ENST00000408923,NM_006480.4;RGS14,synonymous_variant,p.=,ENST00000511890,;RGS14,upstream_gene_variant,,ENST00000506944,;RGS14,upstream_gene_variant,,ENST00000503110,;RGS14,non_coding_transcript_exon_variant,,ENST00000514713,;RGS14,non_coding_transcript_exon_variant,,ENST00000504631,;RGS14,upstream_gene_variant,,ENST00000425155,;RGS14,upstream_gene_variant,,ENST00000514102,;RGS14,upstream_gene_variant,,ENST00000512490,;RGS14,upstream_gene_variant,,ENST00000512000,;RGS14,upstream_gene_variant,,ENST00000502731,;RGS14,upstream_gene_variant,,ENST00000503044,;RGS14,upstream_gene_variant,,ENST00000509289,;	uc003mgf.2	c.466C>A	654/2415	1	1			c.466C>A						5	SNP	c.(466-468)CGG>AGG	62	62			lung(1)	1	Broad	regulator of G-protein signalling 14			176794018		0.662	ENSG00000169220	13080	g.chr5:176794018C>A	chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity	NSCLC(47;353 1896 28036)			NSCLC(47;353 1896 28036)			71.520237	KEEP	19	6	0.24	9	17	19	6	0.24	71.520237	9	17	0.5	1	0	0	0	0	0	0	1	0	--	--		0	A			RGS14_uc003mgg.1_Silent_p.R3R|RGS14_uc003mgh.2_Silent_p.R3R|RGS14_uc003mgi.2_5'Flank	161	GBM-19-2619-TP	p.R156R	C	GGACATGTTTCGGGCACAGCA	NM_006480	NP_006471	176794018	O43566	RGS14_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	648	+	A	A	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Silent	156			RGS.			
RGS22	26166	broad.mit.edu	GRCh37	8	101059740	101059740	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2558-01	TCGA-06-2558-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360863.6:c.1774C>T	p.Arg592Trp	p.R592W	ENST00000360863	NM_015668.3	592	Cgg/Tgg	0			1			A	R/W	uc003yjb.1	protein_coding	YES	CCDS43758.1			1774/3795									ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	c.(1774-1776)CGG>TGG			hmmpanther:PTHR10845:SF132,hmmpanther:PTHR10845	regulator of G-protein signaling 22				ENSP00000354109		28-Nov	6.62E-05		0.000432		0.000303	1.50E-05			rs766770784,COSM1094245,COSM1094244	28-Nov	common_variant		ENST00000360863	Transcript			negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	ENSG00000132554	g.chr8:101059740G>A	24499			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=RGS22_HUMAN&rb=401&re=600&var=R592W	NA	getma.org/?cm=var&var=hg19,8,101059740,G,A&fts=all	R592W	--	--	1																																		RGS22_uc003yja.1_Missense_Mutation_p.R411W|RGS22_uc003yjc.1_Missense_Mutation_p.R580W|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	0,1,1	1		possibly_damaging(0.702)	p.R592W	NM_015668	NP_056483		deleterious(0.01)	0,1,1	RGS22_HUMAN	RGS22	HGNC	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		E5RHE4_HUMAN,E5RFV6_HUMAN		11	1969	-			UPI0000E5AF25	592					SNV	RGS22,missense_variant,p.Arg592Trp,ENST00000360863,NM_015668.3;RGS22,missense_variant,p.Arg411Trp,ENST00000523287,NM_001286693.1;RGS22,missense_variant,p.Arg580Trp,ENST00000523437,NM_001286692.1;RGS22,intron_variant,,ENST00000517828,;RGS22,non_coding_transcript_exon_variant,,ENST00000524182,;RGS22,3_prime_UTR_variant,,ENST00000519725,;RGS22,non_coding_transcript_exon_variant,,ENST00000520923,;RGS22,upstream_gene_variant,,ENST00000518474,;	uc003yjb.1	c.1774C>T	1969/4296	2	2			c.1774C>T						8	SNP	c.(1774-1776)CGG>TGG	21	21			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	Broad	regulator of G-protein signaling 22			101059740		0.383	ENSG00000132554	13088	g.chr8:101059740G>A	negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			790			790	204.08321	KEEP	46	24	-1	42	65	46	24	-1	204.990564	42	65	0.419753	1	0	0	0	0	1	0	0	0	--	--		0	A			RGS22_uc003yja.1_Missense_Mutation_p.R411W|RGS22_uc003yjc.1_Missense_Mutation_p.R580W|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	82	GBM-06-2558-TP	p.R592W	G	AAAAGCTCCCGCTTCCAAGGC	NM_015668	NP_056483	101059740	Q8NE09	RGS22_HUMAN	0	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		11	1969	-	A	A			Missense_Mutation	592						
RGS22	0	broad.mit.edu	GRCh37	8	101016271	101016271	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01	TCGA-27-1838-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360863.6:c.2510G>A	p.Arg837Gln	p.R837Q	ENST00000360863	NM_015668.3	837	cGa/cAa	0		T:0	1	T:0		T	R/Q	uc003yjb.1	protein_coding	YES	CCDS43758.1			2510/3795									ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	c.(2509-2511)CGA>CAA			hmmpanther:PTHR10845:SF132,hmmpanther:PTHR10845	regulator of G-protein signaling 22		T:0.001		ENSP00000354109	T:0	17/28	4.97E-05			0.000117		7.51E-05			rs545074494,COSM277057,COSM277058	17/28	.		ENST00000360863	Transcript		T:0.0002	negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	ENSG00000132554	g.chr8:101016271C>T	24499			MODERATE		-1.355	neutral	getma.org/?cm=msa&ty=f&p=RGS22_HUMAN&rb=787&re=851&var=R837Q	NA	getma.org/?cm=var&var=hg19,8,101016271,C,T&fts=all	R837Q	--	--	1																																		RGS22_uc003yja.1_Missense_Mutation_p.R656Q|RGS22_uc003yjc.1_Missense_Mutation_p.R825Q|RGS22_uc011lgz.1_RNA	0,1,1	1		benign(0.001)	p.R837Q	NM_015668	NP_056483	T:0	tolerated(0.46)	0,1,1	RGS22_HUMAN	RGS22	HGNC	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		E5RHE4_HUMAN,E5RFV6_HUMAN		17	2705	-			UPI0000E5AF25	837					SNV	RGS22,missense_variant,p.Arg837Gln,ENST00000360863,NM_015668.3;RGS22,missense_variant,p.Arg656Gln,ENST00000523287,NM_001286693.1;RGS22,missense_variant,p.Arg825Gln,ENST00000523437,NM_001286692.1;RGS22,missense_variant,p.Arg152Gln,ENST00000517828,;SNORD77,upstream_gene_variant,,ENST00000391112,;RGS22,non_coding_transcript_exon_variant,,ENST00000519421,;RGS22,non_coding_transcript_exon_variant,,ENST00000517769,;RGS22,downstream_gene_variant,,ENST00000519725,;	uc003yjb.1	c.2510G>A	2705/4296	2	2			c.2510G>A						8	SNP	c.(2509-2511)CGA>CAA	47	47			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	Broad	regulator of G-protein signaling 22			101016271		0.353	ENSG00000132554	13088	g.chr8:101016271C>T	negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			790			790	126.986996	KEEP	28	25	-1	61	48	28	25	-1	131.24194	61	48	0.316901	1	0	0	0	0	1	0	0	0	--	--		0	T			RGS22_uc003yja.1_Missense_Mutation_p.R656Q|RGS22_uc003yjc.1_Missense_Mutation_p.R825Q|RGS22_uc011lgz.1_RNA	197	GBM-27-1838-TP	p.R837Q	C	ATATTCTGTTCGTTTAGAGAC	NM_015668	NP_056483	101016271	Q8NE09	RGS22_HUMAN	0	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		17	2705	-	T	T			Missense_Mutation	837						
RGS22	0	broad.mit.edu	GRCh37	8	101018320	101018320	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-41-4097-01	TCGA-41-4097-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360863.6:c.2379A>G	p.Glu793=	p.E793=	ENST00000360863	NM_015668.3	793	gaA/gaG	0			1			C	E	uc003yjb.1	protein_coding	YES	CCDS43758.1			2379/3795									ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	c.(2377-2379)GAA>GAG			hmmpanther:PTHR10845:SF132,hmmpanther:PTHR10845	regulator of G-protein signaling 22				ENSP00000354109		16/28									COSM3412603,COSM3412602	16/28	.		ENST00000360863	Transcript			negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	ENSG00000132554	g.chr8:101018320T>C	24499			LOW								--	--	1																																		RGS22_uc003yja.1_Silent_p.E612E|RGS22_uc003yjc.1_Silent_p.E781E|RGS22_uc011lgz.1_RNA	1,1	1			p.E793E	NM_015668	NP_056483			1,1	RGS22_HUMAN	RGS22	HGNC	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		E5RHE4_HUMAN,E5RFV6_HUMAN		16	2574	-			UPI0000E5AF25	793					SNV	RGS22,synonymous_variant,p.=,ENST00000360863,NM_015668.3;RGS22,synonymous_variant,p.=,ENST00000523287,NM_001286693.1;RGS22,synonymous_variant,p.=,ENST00000523437,NM_001286692.1;RGS22,synonymous_variant,p.=,ENST00000517828,;SNORD77,downstream_gene_variant,,ENST00000391112,;RGS22,non_coding_transcript_exon_variant,,ENST00000519421,;RGS22,non_coding_transcript_exon_variant,,ENST00000517769,;RGS22,downstream_gene_variant,,ENST00000519725,;	uc003yjb.1	c.2379A>G	2574/4296	3	3			c.2379A>G						8	SNP	c.(2377-2379)GAA>GAG	13	13			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	Broad	regulator of G-protein signaling 22			101018320		0.373	ENSG00000132554	13088	g.chr8:101018320T>C	negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			790			790	77.302016	KEEP	5	18	-1	14	38	5	18	-1	78.876559	14	38	0.338235	1	0	0	0	0	0	0	1	0	--	--		0	C			RGS22_uc003yja.1_Silent_p.E612E|RGS22_uc003yjc.1_Silent_p.E781E|RGS22_uc011lgz.1_RNA	257	GBM-41-4097-TP	p.E793E	T	ACTGTCGAGTTTCTTCCACCA	NM_015668	NP_056483	101018320	Q8NE09	RGS22_HUMAN	0	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		16	2574	-	C	C			Silent	793						
RGS22	26166		GRCh37	8	101065160	101065160	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000360863.6:c.1559C>T	p.Ala520Val	p.A520V	ENST00000360863	NM_015668.3	520	gCt/gTt	0																																																																																																																																																																																																																																												
RGS3	0	broad.mit.edu	GRCh37	9	116259676	116259677	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	GCTGAGAG			TCGA-32-4719-01	TCGA-32-4719-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000350696.5:c.835_841+1dupCTGAGAGG		P278fs	ENST00000350696		278	ccg/ccGCTGAGAGg	0			1			GCTGAGAG	P/PLRX	uc004bhq.2	protein_coding		CCDS43869.1			833-834/3597									ovary(1)|lung(1)|skin(1)	3	c.(832-834)CCGfs			Low_complexity_(Seg):seg	regulator of G-protein signalling 3 isoform 6				ENSP00000259406		25-Sep										25-Sep	.		ENST00000350696	Transcript			inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	ENSG00000138835	g.chr9:116259676_116259677insGCTGAGAG	9999	9		HIGH								--	--	1																																		RGS3_uc004bhr.2_Frame_Shift_Ins_p.P166fs|RGS3_uc004bhs.2_Frame_Shift_Ins_p.P168fs					p.P278fs	NM_144488	NP_652759				RGS3_HUMAN	RGS3	HGNC	P49796	RGS3_HUMAN			H7BXY1_HUMAN,C9J6G2_HUMAN		10	1042_1043	+			UPI00001C0F58	278					insertion	RGS3,frameshift_variant,,ENST00000374140,NM_144488.5,NM_001282923.1;RGS3,frameshift_variant,,ENST00000350696,;RGS3,frameshift_variant,,ENST00000317613,NM_017790.4;RGS3,upstream_gene_variant,,ENST00000343817,NM_130795.3;RGS3,upstream_gene_variant,,ENST00000394646,NM_001276261.1;RGS3,upstream_gene_variant,,ENST00000466314,;RGS3,downstream_gene_variant,,ENST00000488259,;RGS3,non_coding_transcript_exon_variant,,ENST00000478599,;	uc004bhq.2	c.833_834insGCTGAGAG	850-851/4398	5	5			c.833_834insGCTGAGAG						9	INS	c.(832-834)CCGfs	64	64			ovary(1)|lung(1)|skin(1)	3	Broad	regulator of G-protein signalling 3 isoform 6			116259677		0.619	ENSG00000138835	13089	g.chr9:116259676_116259677insGCTGAGAG	inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity																				0.1	1	0	0	1	1	0	0	0	0	--	--		0	GCTGAGAG			RGS3_uc004bhr.2_Frame_Shift_Ins_p.P166fs|RGS3_uc004bhs.2_Frame_Shift_Ins_p.P168fs	248	GBM-32-4719-TP	p.P278fs	-	CGACTGCGGCCGCTGAGAGGTA	NM_144488	NP_652759	116259676	P49796	RGS3_HUMAN	0			10	1042_1043	+	GCTGAGAG	GCTGAGAG			Frame_Shift_Ins	278						
RGS3	0	broad.mit.edu	GRCh37	9	116268773	116268773	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4929-01	TCGA-76-4929-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000350696.5:c.1085G>A	p.Arg362Gln	p.R362Q	ENST00000350696		362	cGg/cAg	0			1			A	R/Q	uc004bhq.2	protein_coding		CCDS43869.1			1085/3597									ovary(1)|lung(1)|skin(1)	3	c.(1084-1086)CGG>CAG			Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF4,SMART_domains:SM00228,Superfamily_domains:SSF50156	regulator of G-protein signalling 3 isoform 6				ENSP00000259406		25-Dec									COSM3413276,COSM3413275,COSM3413274,COSM3413273	25-Dec	.		ENST00000350696	Transcript			inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	ENSG00000138835	g.chr9:116268773G>A	9999			MODERATE		1.315	low	getma.org/?cm=msa&ty=f&p=RGS3_HUMAN&rb=298&re=373&var=R362Q	getma.org/pdb.php?prot=RGS3_HUMAN&from=298&to=373&var=R362Q	getma.org/?cm=var&var=hg19,9,116268773,G,A&fts=all	R362Q	--	--	1																																		RGS3_uc004bhr.2_Missense_Mutation_p.R250Q|RGS3_uc004bhs.2_Missense_Mutation_p.R252Q|RGS3_uc004bht.2_Missense_Mutation_p.R81Q|RGS3_uc010muy.2_Missense_Mutation_p.R81Q|RGS3_uc004bhu.2_5'UTR	1,1,1,1			probably_damaging(0.99)	p.R362Q	NM_144488	NP_652759		deleterious(0)	1,1,1,1	RGS3_HUMAN	RGS3	HGNC	P49796	RGS3_HUMAN			H7BXY1_HUMAN,C9J6G2_HUMAN		13	1294	+			UPI00001C0F58	362			PDZ.		SNV	RGS3,missense_variant,p.Arg362Gln,ENST00000374140,NM_144488.5,NM_001282923.1;RGS3,missense_variant,p.Arg362Gln,ENST00000350696,;RGS3,missense_variant,p.Arg81Gln,ENST00000343817,NM_130795.3;RGS3,missense_variant,p.Arg81Gln,ENST00000394646,NM_001276261.1;RGS3,missense_variant,p.Arg250Gln,ENST00000317613,NM_017790.4;RGS3,splice_region_variant,,ENST00000374136,;RGS3,splice_region_variant,,ENST00000464306,;RGS3,splice_region_variant,,ENST00000466314,;RGS3,splice_region_variant,,ENST00000478599,;	uc004bhq.2	c.1085G>A	1102/4398	2	2			c.1085G>A						9	SNP	c.(1084-1086)CGG>CAG	22	22			ovary(1)|lung(1)|skin(1)	3	Broad	regulator of G-protein signalling 3 isoform 6			116268773		0.677	ENSG00000138835	13089	g.chr9:116268773G>A	inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity							15.669957	KEEP	2	4	-1	2	8	2	4	-1	16.038988	2	8	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	A			RGS3_uc004bhr.2_Missense_Mutation_p.R250Q|RGS3_uc004bhs.2_Missense_Mutation_p.R252Q|RGS3_uc004bht.2_Missense_Mutation_p.R81Q|RGS3_uc010muy.2_Missense_Mutation_p.R81Q|RGS3_uc004bhu.2_5'UTR	269	GBM-76-4929-TP	p.R362Q	G	CACGAGATCCGGTGACAGGGG	NM_144488	NP_652759	116268773	P49796	RGS3_HUMAN	0			13	1294	+	A	A			Missense_Mutation	362			PDZ.			
RGS4	0	broad.mit.edu	GRCh37	1	163044147	163044147	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01	TCGA-16-1045-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367909.6:c.415C>T	p.Arg139Trp	p.R139W	ENST00000367909	NM_005613.5	139	Cgg/Tgg	0		T:0	1	T:0		T	R/W	uc009wuy.2	protein_coding		CCDS1243.1			415/618									ovary(2)|central_nervous_system(1)	3	c.(415-417)CGG>TGG			Gene3D:1.10.167.10,Pfam_domain:PF00615,PROSITE_profiles:PS50132,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF40,SMART_domains:SM00315,Superfamily_domains:SSF48097	regulator of G-protein signaling 4 isoform 2		T:0.004		ENSP00000356885	T:0	5-May	0.000313		8.66E-05	0.00347	0.000151	4.50E-05		0.000182	rs376893352,COSM3399938,COSM3399937	5-May	common_variant		ENST00000367909	Transcript	1	T:0.0010	inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	ENSG00000117152	g.chr1:163044147C>T	10000			MODERATE								--	--	1																																		RGS4_uc001gcl.3_Missense_Mutation_p.R236W|RGS4_uc009wuz.2_Missense_Mutation_p.P83L|RGS4_uc009wva.2_Missense_Mutation_p.R121W	0,1,1			benign(0.111)	p.R139W	NM_005613	NP_005604	T:0.001	deleterious(0)	0,1,1	RGS4_HUMAN	RGS4	HGNC	P49798	RGS4_HUMAN			E9PS05_HUMAN		5	926	+			UPI0000044572	139			RGS.		SNV	RGS4,missense_variant,p.Arg236Trp,ENST00000421743,NM_001102445.2,NM_001113380.1;RGS4,missense_variant,p.Arg139Trp,ENST00000367909,NM_005613.5,NM_001113380.1;RGS4,missense_variant,p.Pro83Leu,ENST00000367908,NM_001113381.1;RGS4,missense_variant,p.Arg121Trp,ENST00000367906,;RGS4,missense_variant,p.Arg121Trp,ENST00000527809,;RGS4,missense_variant,p.Arg121Trp,ENST00000528938,;RGS4,intron_variant,,ENST00000531057,;RGS4,non_coding_transcript_exon_variant,,ENST00000491263,;RGS4,downstream_gene_variant,,ENST00000527393,;RGS4,downstream_gene_variant,,ENST00000533019,;	uc009wuy.2	c.415C>T	755/3200	1	1			c.415C>T						1	SNP	c.(415-417)CGG>TGG	8	8			ovary(2)|central_nervous_system(1)	3	Broad	regulator of G-protein signaling 4 isoform 2			163044147		0.507	ENSG00000117152	13090	g.chr1:163044147C>T	inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	Ovarian(76;1257 1738 3039 6086)			Ovarian(76;1257 1738 3039 6086)			510.808227	KEEP	91	87	-1	208	189	91	87	-1	526.22872	208	189	0.317308	1	0	0	0	0	1	0	0	0	--	--		0	T			RGS4_uc001gcl.3_Missense_Mutation_p.R236W|RGS4_uc009wuz.2_Missense_Mutation_p.P83L|RGS4_uc009wva.2_Missense_Mutation_p.R121W	157	GBM-16-1045-TP	p.R139W	C	AGAGACAAGCCGGAACATGCT	NM_005613	NP_005604	163044147	P49798	RGS4_HUMAN	0			5	926	+	T	T			Missense_Mutation	139			RGS.			
RGS6	0	broad.mit.edu	GRCh37	14	72943451	72943451	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G			TCGA-28-6450-01	TCGA-28-6450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000553530.1:c.695C>G	p.Ser232Cys	p.S232C	ENST00000553530	NM_004296.5	232	tCc/tGc	0			1			G	S/C	uc001xna.3	protein_coding		CCDS9808.1			695/1419									upper_aerodigestive_tract(1)|lung(1)|skin(1)	3	c.(694-696)TCC>TGC			hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF27	regulator of G-protein signalling 6				ENSP00000452331		17-Nov	8.24E-06							6.14E-05	rs767452040,COSM3401450,COSM3401449,COSM3401451	17-Nov	.		ENST00000553530	Transcript			G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	ENSG00000182732	g.chr14:72943451C>G	10002			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=RGS6_HUMAN&rb=114&re=249&var=S232C	NA	getma.org/?cm=var&var=hg19,14,72943451,C,G&fts=all	S232C	--	--	1																																		RGS6_uc010ttn.1_Missense_Mutation_p.S232C|RGS6_uc001xmx.3_Missense_Mutation_p.S232C|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.S232C|RGS6_uc010ttp.1_Missense_Mutation_p.S163C|RGS6_uc001xmz.1_Missense_Mutation_p.S93C	0,1,1,1			benign(0.052)	p.S232C	NM_004296	NP_004287		deleterious(0.04)	0,1,1,1	RGS6_HUMAN	RGS6	HGNC	P49758	RGS6_HUMAN		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	Q2M3K2_HUMAN,B7Z2N1_HUMAN		11	1218	+			UPI00001698D1	232					SNV	RGS6,missense_variant,p.Ser232Cys,ENST00000553530,NM_004296.5,NM_001204422.1,NM_001204421.1,NM_001204418.1,NM_001204417.1,NM_001204420.1;RGS6,missense_variant,p.Ser232Cys,ENST00000553525,NM_001204424.1;RGS6,missense_variant,p.Ser163Cys,ENST00000434263,;RGS6,missense_variant,p.Ser232Cys,ENST00000555571,;RGS6,missense_variant,p.Ser232Cys,ENST00000556437,NM_001204416.1;RGS6,missense_variant,p.Ser232Cys,ENST00000355512,;RGS6,missense_variant,p.Ser232Cys,ENST00000404301,;RGS6,missense_variant,p.Ser232Cys,ENST00000407322,;RGS6,missense_variant,p.Ser232Cys,ENST00000406236,;RGS6,missense_variant,p.Ser232Cys,ENST00000402788,NM_001204423.1;RGS6,missense_variant,p.Ser232Cys,ENST00000343854,NM_001204419.1;RGS6,missense_variant,p.Ser93Cys,ENST00000554782,;RGS6,splice_region_variant,,ENST00000555368,;RGS6,downstream_gene_variant,,ENST00000553690,;RGS6,missense_variant,p.Ser232Cys,ENST00000554474,;RGS6,splice_region_variant,,ENST00000554734,;	uc001xna.3	c.695C>G	902/3105	4	4			c.695C>G						14	SNP	c.(694-696)TCC>TGC	25	25			upper_aerodigestive_tract(1)|lung(1)|skin(1)	3	Broad	regulator of G-protein signalling 6			72943451		0.323	ENSG00000182732	13092	g.chr14:72943451C>G	G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	Ovarian(143;1926 2468 21071 48641)			Ovarian(143;1926 2468 21071 48641)			28.863881	KEEP	3	7	-1	12	10	3	7	-1	29.793231	12	10	0.310345	1	0	0	0	0	1	0	0	0	--	--		0	G			RGS6_uc010ttn.1_Missense_Mutation_p.S232C|RGS6_uc001xmx.3_Missense_Mutation_p.S232C|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.S232C|RGS6_uc010ttp.1_Missense_Mutation_p.S163C|RGS6_uc001xmz.1_Missense_Mutation_p.S93C	227	GBM-28-6450-TP	p.S232C	C	TTCTCCTAGTCCGTGTATGGC	NM_004296	NP_004287	72943451	P49758	RGS6_HUMAN	0		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	11	1218	+	G	G			Missense_Mutation	232						
RGS9	8787	broad.mit.edu	GRCh37	17	63173876	63173876	+	synonymous_variant	Silent	SNP	C	C	T	rs61739619		TCGA-06-2562-01	TCGA-06-2562-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262406.9:c.609C>T	p.Tyr203=	p.Y203=	ENST00000262406	NM_003835.3	203	taC/taT	0	T:0.002	T:0.0038	1	T:0.0014		T	Y	uc002jfe.2	protein_coding	YES	CCDS42373.1			609/2025									ovary(2)|skin(2)	4	c.(607-609)TAC>TAT			hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF20	regulator of G-protein signaling 9 isoform 1		T:0	T:0	ENSP00000262406	T:0	19-Sep	0.000571	0.00214				7.49E-05		0.0026	rs61739619,COSM2152828	19-Sep	common_variant		ENST00000262406	Transcript	1	T:0.0018	intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	ENSG00000108370	g.chr17:63173876C>T	10004			LOW								--	--	1																																		RGS9_uc010dem.2_Silent_p.Y203Y|RGS9_uc002jfd.2_Silent_p.Y203Y|RGS9_uc002jff.2_RNA	0,1	1			p.Y203Y	NM_003835	NP_003826	T:0.0031		0,1	RGS9_HUMAN	RGS9	HGNC	O75916	RGS9_HUMAN					9	719	+			UPI000013382A	203					SNV	RGS9,synonymous_variant,p.=,ENST00000449996,NM_001081955.2;RGS9,synonymous_variant,p.=,ENST00000262406,NM_003835.3;RGS9,synonymous_variant,p.=,ENST00000443584,NM_001165933.1;RGS9,non_coding_transcript_exon_variant,,ENST00000577186,;RGS9,synonymous_variant,p.=,ENST00000584234,;RGS9,non_coding_transcript_exon_variant,,ENST00000581175,;	uc002jfe.2	c.609C>T	676/2375	2	2			c.609C>T						17	SNP	c.(607-609)TAC>TAT	20	20			ovary(2)|skin(2)	4	Broad	regulator of G-protein signaling 9 isoform 1			63173876		0.488	ENSG00000108370	13096	g.chr17:63173876C>T	intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity							176.774915	KEEP	27	48	-1	110	95	27	48	-1	187.331166	110	95	0.276596	1	0	0	0	0	0	0	1	0	--	--		0	T			RGS9_uc010dem.2_Silent_p.Y203Y|RGS9_uc002jfd.2_Silent_p.Y203Y|RGS9_uc002jff.2_RNA	85	GBM-06-2562-TP	p.Y203Y	C	TGCTGGACTACGGCCTGGACC	NM_003835	NP_003826	63173876	O75916	RGS9_HUMAN	0			9	719	+	T	T			Silent	203						
RGS9	0	broad.mit.edu	GRCh37	17	63206625	63206625	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01	TCGA-28-5204-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262406.9:c.1309C>T	p.Arg437Trp	p.R437W	ENST00000262406	NM_003835.3	437	Cgg/Tgg	0		T:0.0008	1	T:0		T	R/W	uc002jfe.2	protein_coding	YES	CCDS42373.1			1309/2025									ovary(2)|skin(2)	4	c.(1309-1311)CGG>TGG			hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF20	regulator of G-protein signaling 9 isoform 1		T:0		ENSP00000262406	T:0	17/19	6.61E-05	0.000102				7.49E-05		0.000121	rs572338388,COSM3403127	17/19	.		ENST00000262406	Transcript	1	T:0.0002	intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	ENSG00000108370	g.chr17:63206625C>T	10004			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=RGS9_HUMAN&rb=417&re=463&var=R437W	NA	getma.org/?cm=var&var=hg19,17,63206625,C,T&fts=all	R437W	--	--	1																																		RGS9_uc010dem.2_Missense_Mutation_p.R434W|RGS9_uc002jfd.2_Missense_Mutation_p.R434W|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.R208W	0,1	1		benign(0.286)	p.R437W	NM_003835	NP_003826	T:0	deleterious(0.04)	0,1	RGS9_HUMAN	RGS9	HGNC	O75916	RGS9_HUMAN					17	1419	+			UPI000013382A	437					SNV	RGS9,missense_variant,p.Arg434Trp,ENST00000449996,NM_001081955.2;RGS9,missense_variant,p.Arg437Trp,ENST00000262406,NM_003835.3;RGS9,missense_variant,p.Arg434Trp,ENST00000443584,NM_001165933.1;RGS9,missense_variant,p.Ala438Val,ENST00000584234,;RGS9,non_coding_transcript_exon_variant,,ENST00000577595,;RGS9,non_coding_transcript_exon_variant,,ENST00000581175,;	uc002jfe.2	c.1309C>T	1376/2375	2	2			c.1309C>T						17	SNP	c.(1309-1311)CGG>TGG	17	17			ovary(2)|skin(2)	4	Broad	regulator of G-protein signaling 9 isoform 1			63206625		0.572	ENSG00000108370	13096	g.chr17:63206625C>T	intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity							-52.119904	KEEP	7	2	-1	128	174	7	2	-1	11.229527	128	174	0.030534	1	0	0	0	0	1	0	0	0	--	--		0	T			RGS9_uc010dem.2_Missense_Mutation_p.R434W|RGS9_uc002jfd.2_Missense_Mutation_p.R434W|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.R208W	215	GBM-28-5204-TP	p.R437W	C	CCCTTTTATGCGGCGTCACCT	NM_003835	NP_003826	63206625	O75916	RGS9_HUMAN	0			17	1419	+	T	T			Missense_Mutation	437						
RGS9	0	broad.mit.edu	GRCh37	17	63193312	63193312	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262406.9:c.929C>T	p.Pro310Leu	p.P310L	ENST00000262406	NM_003835.3	310	cCc/cTc	0			1			T	P/L	uc002jfe.2	protein_coding	YES	CCDS42373.1			929/2025									ovary(2)|skin(2)	4	c.(928-930)CCC>CTC			Gene3D:1.10.196.10,Pfam_domain:PF00615,Prints_domain:PR01301,PROSITE_profiles:PS50132,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF20,SMART_domains:SM00315,Superfamily_domains:SSF48097	regulator of G-protein signaling 9 isoform 1				ENSP00000262406		13/19									COSM3403126	13/19	.		ENST00000262406	Transcript	1		intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	ENSG00000108370	g.chr17:63193312C>T	10004			MODERATE		2.34	medium	getma.org/?cm=msa&ty=f&p=RGS9_HUMAN&rb=302&re=416&var=P310L	getma.org/pdb.php?prot=RGS9_HUMAN&from=302&to=416&var=P310L	getma.org/?cm=var&var=hg19,17,63193312,C,T&fts=all	P310L	--	--	1																																		RGS9_uc010dem.2_Missense_Mutation_p.P307L|RGS9_uc002jfd.2_Missense_Mutation_p.P307L|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.P81L	1	1		possibly_damaging(0.806)	p.P310L	NM_003835	NP_003826		tolerated(0.06)	1	RGS9_HUMAN	RGS9	HGNC	O75916	RGS9_HUMAN					13	1039	+			UPI000013382A	310			RGS.		SNV	RGS9,missense_variant,p.Pro307Leu,ENST00000449996,NM_001081955.2;RGS9,missense_variant,p.Pro310Leu,ENST00000262406,NM_003835.3;RGS9,missense_variant,p.Pro307Leu,ENST00000443584,NM_001165933.1;RGS9,missense_variant,p.Pro310Leu,ENST00000584234,;RGS9,non_coding_transcript_exon_variant,,ENST00000577595,;RGS9,non_coding_transcript_exon_variant,,ENST00000581175,;	uc002jfe.2	c.929C>T	996/2375	2	2			c.929C>T						17	SNP	c.(928-930)CCC>CTC	45	45			ovary(2)|skin(2)	4	Broad	regulator of G-protein signaling 9 isoform 1			63193312		0.423	ENSG00000108370	13096	g.chr17:63193312C>T	intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity							-0.946984	KEEP	2	3	-1	31	34	2	3	-1	9.652728	31	34	0.071429	1	0	0	0	0	1	0	0	0	--	--		0	T			RGS9_uc010dem.2_Missense_Mutation_p.P307L|RGS9_uc002jfd.2_Missense_Mutation_p.P307L|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.P81L	269	GBM-76-4929-TP	p.P310L	C	ATCCGAGACCCCAAAGGTCGA	NM_003835	NP_003826	63193312	O75916	RGS9_HUMAN	0			13	1039	+	T	T			Missense_Mutation	310			RGS.			
RHAG	6005	broad.mit.edu	GRCh37	6	49574864	49574864	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	G			TCGA-06-0877-01	TCGA-06-0877-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371175.4:c.1137A>C		p.X379_splice	ENST00000371175	NM_000324.2	379	acA/acC	0			1			G	T	uc003ozk.3	protein_coding	YES	CCDS4927.1			1137/1230									breast(1)|skin(1)	2	c.(1135-1137)ACA>ACC			Superfamily_domains:0044218,Gene3D:1.10.3430.10,Pfam_domain:PF00909,Prints_domain:PR00342,hmmpanther:PTHR11883,hmmpanther:PTHR11883:SF27,Transmembrane_helices:TMhelix	Rh-associated glycoprotein				ENSP00000360217		10-Aug									COSM3411162	10-Aug	.		ENST00000371175	Transcript	1		carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	ENSG00000112077	g.chr6:49574864T>G	10006			LOW								--	--	1																																		RHAG_uc010jzl.2_Silent_p.T379T|RHAG_uc010jzm.2_Silent_p.R339R	1	1			p.T379T	NM_000324	NP_000315			1	RHAG_HUMAN	RHAG	HGNC	Q02094	RHAG_HUMAN			Q9UL98_HUMAN,Q9UK69_HUMAN,Q9UHG8_HUMAN,Q9UBB8_HUMAN		8	1199	-	Lung NSC(77;0.0255)		UPI000006D18F	379			Helical; (Potential).		SNV	RHAG,splice_region_variant,p.=,ENST00000371175,NM_000324.2;RHAG,splice_region_variant,p.=,ENST00000229810,;	uc003ozk.3	c.1137A>C	1164/1912	3	3			c.1137A>C						6	SNP	c.(1135-1137)ACA>ACC	5	5			breast(1)|skin(1)	2	Broad	Rh-associated glycoprotein			49574864		0.398	ENSG00000112077	13098	g.chr6:49574864T>G	carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	Ovarian(176;476 2003 7720 43408 44749)			Ovarian(176;476 2003 7720 43408 44749)			18.943817	KEEP	8	2	-1	18	29	8	2	-1	23.546718	18	29	0.183673	1	0	0	0	0	0	0	1	0	--	--		0	G			RHAG_uc010jzl.2_Silent_p.T379T|RHAG_uc010jzm.2_Silent_p.R339R	73	GBM-06-0877-TP	p.T379T	T	TATGCTGACCTGTCATCAGAC	NM_000324	NP_000315	49574864	Q02094	RHAG_HUMAN	0			8	1199	-	G	G	Lung NSC(77;0.0255)		Silent	379			Helical; (Potential).			
RHAG	6005		GRCh37	6	49582542	49582542	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000371175.4:c.665G>T	p.Trp222Leu	p.W222L	ENST00000371175	NM_000324.2	222	tGg/tTg	0																																																																																																																																																																																																																																												
RHBDD2	57414	broad.mit.edu	GRCh37	7	75511205	75511205	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000006777.6:c.237C>T	p.Gly79=	p.G79=	ENST00000006777	NM_001040456.1	79	ggC/ggT	0	T:0.0002		1			T	G	uc003udw.1	protein_coding	YES	CCDS43602.1			237/1095										0	c.(235-237)GGC>GGT			Transmembrane_helices:TMhelix,Superfamily_domains:SSF144091,Pfam_domain:PF01694,Gene3D:2xovA00,hmmpanther:PTHR22790,hmmpanther:PTHR22790:SF33	rhomboid domain containing 2 isoform a			T:0	ENSP00000006777		4-Feb	0.000149	0.000102	0.000259			0.000211			rs200252846,COSM3412303	4-Feb	.		ENST00000006777	Transcript				integral to membrane	serine-type endopeptidase activity	ENSG00000005486	g.chr7:75511205C>T	23082			LOW								--	--	1																																		RHBDD2_uc003udv.1_5'UTR	0,1	1			p.G79G	NM_001040456	NP_001035546			0,1	RHBD2_HUMAN	RHBDD2	HGNC	Q6NTF9	RHBD2_HUMAN					2	321	+			UPI0000072213	79			Helical; (Potential).		SNV	RHBDD2,synonymous_variant,p.=,ENST00000006777,NM_001040456.1;RHBDD2,5_prime_UTR_variant,,ENST00000318622,NM_001040457.1;RHBDD2,upstream_gene_variant,,ENST00000428119,;RHBDD2,non_coding_transcript_exon_variant,,ENST00000466232,;RHBDD2,non_coding_transcript_exon_variant,,ENST00000468644,;RHBDD2,intron_variant,,ENST00000468304,;RHBDD2,upstream_gene_variant,,ENST00000467406,;RHBDD2,downstream_gene_variant,,ENST00000476218,;RHBDD2,3_prime_UTR_variant,,ENST00000454791,;	uc003udw.1	c.237C>T	372/1802	1	1			c.237C>T						7	SNP	c.(235-237)GGC>GGT	5	5				0	Broad	rhomboid domain containing 2 isoform a			75511205		0.567	ENSG00000005486	13100	g.chr7:75511205C>T		integral to membrane	serine-type endopeptidase activity							412.728984	KEEP	60	99	-1	83	106	60	99	-1	413.315927	83	106	0.452769	1	0	0	0	0	0	0	1	0	--	--		0	T			RHBDD2_uc003udv.1_5'UTR	102	GBM-06-5858-TP	p.G79G	C	TGCTCTGCGGCGCTATCATCA	NM_001040456	NP_001035546	75511205	Q6NTF9	RHBD2_HUMAN	0			2	321	+	T	T			Silent	79			Helical; (Potential).			
RHBDD2	0	broad.mit.edu	GRCh37	7	75517607	75517607	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-12-5299-01	TCGA-12-5299-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000006777.6:c.1035G>T	p.Gly345=	p.G345=	ENST00000006777	NM_001040456.1	345	ggG/ggT	0			1			T	G	uc003udw.1	protein_coding	YES	CCDS43602.1			1035/1095										0	c.(1033-1035)GGG>GGT			hmmpanther:PTHR22790,hmmpanther:PTHR22790:SF33	rhomboid domain containing 2 isoform a				ENSP00000006777		4-Apr									COSM3412305,COSM3412304	4-Apr	.		ENST00000006777	Transcript				integral to membrane	serine-type endopeptidase activity	ENSG00000005486	g.chr7:75517607G>T	23082			LOW								--	--	1																																		RHBDD2_uc003udv.1_Silent_p.G204G	1,1	1			p.G345G	NM_001040456	NP_001035546			1,1	RHBD2_HUMAN	RHBDD2	HGNC	Q6NTF9	RHBD2_HUMAN					4	1119	+			UPI0000072213	345					SNV	RHBDD2,synonymous_variant,p.=,ENST00000318622,NM_001040457.1;RHBDD2,synonymous_variant,p.=,ENST00000006777,NM_001040456.1;RHBDD2,synonymous_variant,p.=,ENST00000428119,;RHBDD2,non_coding_transcript_exon_variant,,ENST00000468304,;RHBDD2,downstream_gene_variant,,ENST00000467406,;RHBDD2,3_prime_UTR_variant,,ENST00000454791,;	uc003udw.1	c.1035G>T	1170/1802	2	2			c.1035G>T						7	SNP	c.(1033-1035)GGG>GGT	21	21				0	Broad	rhomboid domain containing 2 isoform a			75517607		0.622	ENSG00000005486	13100	g.chr7:75517607G>T		integral to membrane	serine-type endopeptidase activity							346.241845	KEEP	83	64	0.56462585	194	243	83	64	0.56462585	375.939946	194	243	0.255898	1	0	0	0	0	0	0	1	0	--	--		0	T			RHBDD2_uc003udv.1_Silent_p.G204G	130	GBM-12-5299-TP	p.G345G	G	TGTATTCTGGGGCCTTGGGCA	NM_001040456	NP_001035546	75517607	Q6NTF9	RHBD2_HUMAN	0			4	1119	+	T	T			Silent	345						
RHBDF2	79651	broad.mit.edu	GRCh37	17	74473065	74473065	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01	TCGA-06-2564-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313080.4:c.1049G>A	p.Gly350Asp	p.G350D	ENST00000313080	NM_024599.5	350	gGc/gAc	0			1			T	G/D	uc002jrq.1	protein_coding	YES	CCDS32743.1			1049/2571										0	c.(1048-1050)GGC>GAC			hmmpanther:PTHR22936,hmmpanther:PTHR22936:SF10	rhomboid, veinlet-like 6 isoform 1				ENSP00000322775		19-Sep									COSM2152934	19-Sep	.		ENST00000313080	Transcript	1		negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	ENSG00000129667	g.chr17:74473065C>T	20788			MODERATE		2.25	medium	getma.org/?cm=msa&ty=f&p=RHDF2_HUMAN&rb=337&re=536&var=G350D	NA	getma.org/?cm=var&var=hg19,17,74473065,C,T&fts=all	G350D	--	--	1																																		RHBDF2_uc002jrp.1_Missense_Mutation_p.G321D|RHBDF2_uc002jrr.1_Missense_Mutation_p.G202D|RHBDF2_uc010wtf.1_Missense_Mutation_p.G321D|RHBDF2_uc002jrs.1_Missense_Mutation_p.G345D	1	1		possibly_damaging(0.901)	p.G350D	NM_024599	NP_078875		deleterious(0.01)	1	RHDF2_HUMAN	RHBDF2	HGNC	Q6PJF5	RHDF2_HUMAN			K7EQT5_HUMAN,K7EPV3_HUMAN,K7ELA9_HUMAN,K7EJ10_HUMAN		9	1342	-			UPI0000DBEF0D	350			Cytoplasmic (Potential).		SNV	RHBDF2,missense_variant,p.Gly321Asp,ENST00000591885,;RHBDF2,missense_variant,p.Gly350Asp,ENST00000313080,NM_024599.5;RHBDF2,missense_variant,p.Gly321Asp,ENST00000389760,NM_001005498.3;RHBDF2,downstream_gene_variant,,ENST00000592123,;RHBDF2,downstream_gene_variant,,ENST00000590288,;RHBDF2,downstream_gene_variant,,ENST00000589526,;RHBDF2,downstream_gene_variant,,ENST00000591697,;RHBDF2,downstream_gene_variant,,ENST00000591879,;RHBDF2,upstream_gene_variant,,ENST00000591860,;RHBDF2,downstream_gene_variant,,ENST00000590322,;RHBDF2,downstream_gene_variant,,ENST00000585701,;RHBDF2,downstream_gene_variant,,ENST00000585989,;RHBDF2,downstream_gene_variant,,ENST00000591192,;RHBDF2,downstream_gene_variant,,ENST00000591255,;RHBDF2,downstream_gene_variant,,ENST00000592378,;RHBDF2,non_coding_transcript_exon_variant,,ENST00000590168,;RHBDF2,non_coding_transcript_exon_variant,,ENST00000587640,;RHBDF2,non_coding_transcript_exon_variant,,ENST00000589582,;	uc002jrq.1	c.1049G>A	1323/3582	2	2			c.1049G>A						17	SNP	c.(1048-1050)GGC>GAC	45	45				0	Broad	rhomboid, veinlet-like 6 isoform 1			74473065		0.647	ENSG00000129667	13103	g.chr17:74473065C>T	negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity							149.516475	KEEP	38	29	-1	46	52	38	29	-1	150.860409	46	52	0.394161	1	0	0	0	0	1	0	0	0	--	--		0	T			RHBDF2_uc002jrp.1_Missense_Mutation_p.G321D|RHBDF2_uc002jrr.1_Missense_Mutation_p.G202D|RHBDF2_uc010wtf.1_Missense_Mutation_p.G321D|RHBDF2_uc002jrs.1_Missense_Mutation_p.G345D	87	GBM-06-2564-TP	p.G350D	C	GATGCGCTTGCCGCGCCGGGG	NM_024599	NP_078875	74473065	Q6PJF5	RHDF2_HUMAN	0			9	1342	-	T	T			Missense_Mutation	350			Cytoplasmic (Potential).			
RHBDL1	9028	broad.mit.edu	GRCh37	16	727080	727080	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0157-01	TCGA-06-0157-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000219551.2:c.731G>A	p.Arg244His	p.R244H	ENST00000219551		244	cGc/cAc	0			1			A	R/H	uc002cis.1	protein_coding	YES				731/1317										0	c.(730-732)CGC>CAC			hmmpanther:PTHR22936:SF7,hmmpanther:PTHR22936,Gene3D:2xovA00,Pfam_domain:PF01694,PIRSF_domain:PIRSF037470,Superfamily_domains:SSF144091	rhomboid protease 1				ENSP00000219551		7-Mar	1.65E-05			0.000232					rs758434424,COSM2150075	7-Mar	.		ENST00000219551	Transcript			proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity	ENSG00000103269	g.chr16:727080G>A	10007			MODERATE		0.045	neutral	getma.org/?cm=msa&ty=f&p=RHBL1_HUMAN&rb=239&re=396&var=R244H	NA	getma.org/?cm=var&var=hg19,16,727080,G,A&fts=all	R244H	--	--	1																																		RHBDL1_uc002cir.1_Missense_Mutation_p.R179H|RHBDL1_uc010uun.1_Missense_Mutation_p.R179H	0,1	1		possibly_damaging(0.883)	p.R244H	NM_003961	NP_003952		deleterious(0.04)	0,1	RHBL1_HUMAN	RHBDL1	HGNC	O75783	RHBL1_HUMAN					3	758	+		Hepatocellular(780;0.0218)	UPI0000048DB3	244					SNV	RHBDL1,missense_variant,p.Arg244His,ENST00000219551,;RHBDL1,missense_variant,p.Arg179His,ENST00000352681,NM_001278721.1,NM_001278720.1;RHBDL1,missense_variant,p.Arg104His,ENST00000561556,;RHOT2,downstream_gene_variant,,ENST00000315082,NM_138769.2;JMJD8,downstream_gene_variant,,ENST00000293882,;JMJD8,downstream_gene_variant,,ENST00000412368,NM_001005920.2;JMJD8,downstream_gene_variant,,ENST00000454700,;JMJD8,downstream_gene_variant,,ENST00000609261,;STUB1,upstream_gene_variant,,ENST00000565677,;STUB1,upstream_gene_variant,,ENST00000219548,NM_005861.2;STUB1,upstream_gene_variant,,ENST00000564370,;STUB1,upstream_gene_variant,,ENST00000567173,;STUB1,upstream_gene_variant,,ENST00000564316,;STUB1,upstream_gene_variant,,ENST00000566408,;RHOT2,downstream_gene_variant,,ENST00000569197,;LA16c-313D11.9,downstream_gene_variant,,ENST00000571933,;LA16c-313D11.9,downstream_gene_variant,,ENST00000567091,;STUB1,upstream_gene_variant,,ENST00000566181,;RHBDL1,non_coding_transcript_exon_variant,,ENST00000450775,;RHOT2,downstream_gene_variant,,ENST00000602564,;RHOT2,downstream_gene_variant,,ENST00000568636,;RHOT2,downstream_gene_variant,,ENST00000569675,;JMJD8,downstream_gene_variant,,ENST00000567120,;JMJD8,downstream_gene_variant,,ENST00000568689,;JMJD8,downstream_gene_variant,,ENST00000565302,;STUB1,upstream_gene_variant,,ENST00000569248,;RHOT2,downstream_gene_variant,,ENST00000568950,;RHOT2,downstream_gene_variant,,ENST00000569358,;RHOT2,downstream_gene_variant,,ENST00000565004,;JMJD8,downstream_gene_variant,,ENST00000568313,;STUB1,upstream_gene_variant,,ENST00000563505,;RHOT2,downstream_gene_variant,,ENST00000564659,;RHOT2,downstream_gene_variant,,ENST00000561711,;STUB1,upstream_gene_variant,,ENST00000567790,;RHOT2,downstream_gene_variant,,ENST00000562957,;	uc002cis.1	c.731G>A	758/1560	2	2			c.731G>A						16	SNP	c.(730-732)CGC>CAC	38	38				0	Broad	rhomboid protease 1			727080		0.617	ENSG00000103269	13104	g.chr16:727080G>A	proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity							99.244424	KEEP	17	26	-1	40	38	17	26	-1	100.2637	40	38	0.389474	1	0	0	0	0	1	0	0	0	--	--		0	A			RHBDL1_uc002cir.1_Missense_Mutation_p.R179H|RHBDL1_uc010uun.1_Missense_Mutation_p.R179H	28	GBM-06-0157-TP	p.R244H	G	CACCGTGCCCGCGCCTGGCGC	NM_003961	NP_003952	727080	O75783	RHBL1_HUMAN	0			3	758	+	A	A		Hepatocellular(780;0.0218)	Missense_Mutation	244						
RHBDL1	9028	broad.mit.edu	GRCh37	16	726867	726867	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5412-01	TCGA-06-5412-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000219551.2:c.592G>A	p.Val198Met	p.V198M	ENST00000219551		198	Gtg/Atg	0			1			A	V/M	uc002cis.1	protein_coding	YES				592/1317										0	c.(592-594)GTG>ATG			Transmembrane_helices:TMhelix,hmmpanther:PTHR22936:SF7,hmmpanther:PTHR22936,Gene3D:2xovA00,PIRSF_domain:PIRSF037470,Superfamily_domains:SSF144091	rhomboid protease 1				ENSP00000219551		7-Feb									COSM3402468	7-Feb	.		ENST00000219551	Transcript			proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity	ENSG00000103269	g.chr16:726867G>A	10007			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=RHBL1_HUMAN&rb=1&re=200&var=V198M	NA	getma.org/?cm=var&var=hg19,16,726867,G,A&fts=all	V198M	--	--	1																																		RHBDL1_uc002cir.1_Missense_Mutation_p.V133M|RHBDL1_uc010uun.1_Missense_Mutation_p.V133M	1	1		possibly_damaging(0.721)	p.V198M	NM_003961	NP_003952		tolerated(0.18)	1	RHBL1_HUMAN	RHBDL1	HGNC	O75783	RHBL1_HUMAN					2	619	+		Hepatocellular(780;0.0218)	UPI0000048DB3	198			Helical; (Potential).		SNV	RHBDL1,missense_variant,p.Val198Met,ENST00000219551,;RHBDL1,missense_variant,p.Val133Met,ENST00000352681,NM_001278721.1,NM_001278720.1;RHBDL1,intron_variant,,ENST00000561556,;RHOT2,downstream_gene_variant,,ENST00000315082,NM_138769.2;JMJD8,downstream_gene_variant,,ENST00000293882,;JMJD8,downstream_gene_variant,,ENST00000412368,NM_001005920.2;JMJD8,downstream_gene_variant,,ENST00000454700,;JMJD8,downstream_gene_variant,,ENST00000609261,;STUB1,upstream_gene_variant,,ENST00000565677,;STUB1,upstream_gene_variant,,ENST00000219548,NM_005861.2;STUB1,upstream_gene_variant,,ENST00000564370,;STUB1,upstream_gene_variant,,ENST00000567173,;STUB1,upstream_gene_variant,,ENST00000564316,;STUB1,upstream_gene_variant,,ENST00000566408,;RHOT2,downstream_gene_variant,,ENST00000569197,;LA16c-313D11.9,downstream_gene_variant,,ENST00000571933,;LA16c-313D11.9,downstream_gene_variant,,ENST00000567091,;STUB1,upstream_gene_variant,,ENST00000566181,;RHBDL1,non_coding_transcript_exon_variant,,ENST00000450775,;RHOT2,downstream_gene_variant,,ENST00000602564,;RHOT2,downstream_gene_variant,,ENST00000568636,;RHOT2,downstream_gene_variant,,ENST00000569675,;JMJD8,downstream_gene_variant,,ENST00000567120,;JMJD8,downstream_gene_variant,,ENST00000568689,;JMJD8,downstream_gene_variant,,ENST00000565302,;STUB1,upstream_gene_variant,,ENST00000569248,;RHOT2,downstream_gene_variant,,ENST00000568950,;RHOT2,downstream_gene_variant,,ENST00000569358,;RHOT2,downstream_gene_variant,,ENST00000567017,;RHOT2,downstream_gene_variant,,ENST00000562333,;RHOT2,downstream_gene_variant,,ENST00000565004,;RHOT2,downstream_gene_variant,,ENST00000563637,;STUB1,upstream_gene_variant,,ENST00000563505,;RHOT2,downstream_gene_variant,,ENST00000564659,;RHOT2,downstream_gene_variant,,ENST00000561711,;STUB1,upstream_gene_variant,,ENST00000567790,;RHOT2,downstream_gene_variant,,ENST00000562957,;	uc002cis.1	c.592G>A	619/1560	2	2			c.592G>A						16	SNP	c.(592-594)GTG>ATG	48	48				0	Broad	rhomboid protease 1			726867		0.667	ENSG00000103269	13104	g.chr16:726867G>A	proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity							-3.717976	KEEP	5	4	-1	72	62	5	4	-1	18.788053	72	62	0.07438	1	0	0	0	0	1	0	0	0	--	--		0	A			RHBDL1_uc002cir.1_Missense_Mutation_p.V133M|RHBDL1_uc010uun.1_Missense_Mutation_p.V133M	95	GBM-06-5412-TP	p.V198M	G	CCCACCCCCCGTGTTCATGGC	NM_003961	NP_003952	726867	O75783	RHBL1_HUMAN	0			2	619	+	A	A		Hepatocellular(780;0.0218)	Missense_Mutation	198			Helical; (Potential).			
RHBDL1	0	broad.mit.edu	GRCh37	16	727863	727863	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-5133-01	TCGA-26-5133-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000219551.2:c.1128G>A	p.Ala376=	p.A376=	ENST00000219551		376	gcG/gcA	0			1			A	A	uc002cis.1	protein_coding	YES				1128/1317										0	c.(1126-1128)GCG>GCA			Transmembrane_helices:TMhelix,hmmpanther:PTHR22936:SF7,hmmpanther:PTHR22936,Gene3D:2xovA00,Pfam_domain:PF01694,PIRSF_domain:PIRSF037470,Superfamily_domains:SSF144091	rhomboid protease 1				ENSP00000219551		7-Jul	5.02E-05		0.000127			9.00E-05		7.73E-05	rs771546029,COSM3402469	7-Jul	.		ENST00000219551	Transcript			proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity	ENSG00000103269	g.chr16:727863G>A	10007			LOW								--	--	1																																		RHBDL1_uc002cir.1_Silent_p.A311A|RHBDL1_uc010uun.1_3'UTR|STUB1_uc002cit.2_5'Flank|STUB1_uc002ciu.2_5'Flank|STUB1_uc010bqz.2_5'Flank|STUB1_uc002civ.2_5'Flank	0,1	1			p.A376A	NM_003961	NP_003952			0,1	RHBL1_HUMAN	RHBDL1	HGNC	O75783	RHBL1_HUMAN					7	1155	+		Hepatocellular(780;0.0218)	UPI0000048DB3	376			Helical; (Potential).		SNV	RHBDL1,synonymous_variant,p.=,ENST00000219551,;RHBDL1,synonymous_variant,p.=,ENST00000352681,NM_001278721.1,NM_001278720.1;RHOT2,downstream_gene_variant,,ENST00000315082,NM_138769.2;JMJD8,downstream_gene_variant,,ENST00000293882,;JMJD8,downstream_gene_variant,,ENST00000412368,NM_001005920.2;JMJD8,downstream_gene_variant,,ENST00000454700,;JMJD8,downstream_gene_variant,,ENST00000609261,;STUB1,upstream_gene_variant,,ENST00000565677,;STUB1,upstream_gene_variant,,ENST00000219548,NM_005861.2;JMJD8,downstream_gene_variant,,ENST00000562824,;STUB1,upstream_gene_variant,,ENST00000564370,;JMJD8,downstream_gene_variant,,ENST00000562111,;RHBDL1,downstream_gene_variant,,ENST00000561556,;STUB1,upstream_gene_variant,,ENST00000567173,;STUB1,upstream_gene_variant,,ENST00000564316,;STUB1,upstream_gene_variant,,ENST00000566408,;RHOT2,downstream_gene_variant,,ENST00000569197,;LA16c-313D11.9,downstream_gene_variant,,ENST00000571933,;LA16c-313D11.9,downstream_gene_variant,,ENST00000567091,;STUB1,upstream_gene_variant,,ENST00000566181,;RHBDL1,non_coding_transcript_exon_variant,,ENST00000450775,;RHOT2,downstream_gene_variant,,ENST00000602564,;RHOT2,downstream_gene_variant,,ENST00000568636,;RHOT2,downstream_gene_variant,,ENST00000569675,;JMJD8,downstream_gene_variant,,ENST00000567120,;JMJD8,downstream_gene_variant,,ENST00000568689,;JMJD8,downstream_gene_variant,,ENST00000565302,;STUB1,upstream_gene_variant,,ENST00000569248,;JMJD8,downstream_gene_variant,,ENST00000569441,;RHOT2,downstream_gene_variant,,ENST00000569358,;JMJD8,downstream_gene_variant,,ENST00000563088,;RHOT2,downstream_gene_variant,,ENST00000565004,;JMJD8,downstream_gene_variant,,ENST00000568313,;STUB1,upstream_gene_variant,,ENST00000563505,;JMJD8,downstream_gene_variant,,ENST00000570037,;RHOT2,downstream_gene_variant,,ENST00000564659,;JMJD8,downstream_gene_variant,,ENST00000564436,;JMJD8,downstream_gene_variant,,ENST00000565258,;STUB1,upstream_gene_variant,,ENST00000567790,;RHOT2,downstream_gene_variant,,ENST00000562957,;STUB1,upstream_gene_variant,,ENST00000565813,;	uc002cis.1	c.1128G>A	1155/1560	2	2			c.1128G>A						16	SNP	c.(1126-1128)GCG>GCA	26	26				0	Broad	rhomboid protease 1			727863		0.736	ENSG00000103269	13104	g.chr16:727863G>A	proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity							4.811771	KEEP	2	3	-1	14	8	2	3	-1	7.161008	14	8	0.15	1	0	0	0	0	0	0	1	0	--	--		0	A			RHBDL1_uc002cir.1_Silent_p.A311A|RHBDL1_uc010uun.1_3'UTR|STUB1_uc002cit.2_5'Flank|STUB1_uc002ciu.2_5'Flank|STUB1_uc010bqz.2_5'Flank|STUB1_uc002civ.2_5'Flank	182	GBM-26-5133-TP	p.A376A	G	GCTTCATGGCGCACCTGGCAG	NM_003961	NP_003952	727863	O75783	RHBL1_HUMAN	0			7	1155	+	A	A		Hepatocellular(780;0.0218)	Silent	376			Helical; (Potential).			
RHBDL3	0	broad.mit.edu	GRCh37	17	30611787	30611787	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269051.4:c.245C>T	p.Ala82Val	p.A82V	ENST00000269051	NM_138328.2	82	gCc/gTc	0			1			T	A/V	uc002hhe.1	protein_coding	YES	CCDS32613.1			245/1215									ovary(1)	1	c.(244-246)GCC>GTC			Gene3D:1.10.238.10,Pfam_domain:PF13499,PIRSF_domain:PIRSF037470,PROSITE_profiles:PS50222,hmmpanther:PTHR22936,hmmpanther:PTHR22936:SF14,Superfamily_domains:SSF47473	rhomboid protease 3				ENSP00000269051		9-Mar									COSM3402759	9-Mar	.		ENST00000269051	Transcript			proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity	ENSG00000141314	g.chr17:30611787C>T	16502			MODERATE		0.38	neutral	getma.org/?cm=msa&ty=f&p=RHBL3_HUMAN&rb=20&re=99&var=A82V	getma.org/pdb.php?prot=RHBL3_HUMAN&from=20&to=99&var=A82V	getma.org/?cm=var&var=hg19,17,30611787,C,T&fts=all	A82V	--	--	1																																		RHBDL3_uc010csw.1_Missense_Mutation_p.A74V|RHBDL3_uc010csx.1_Missense_Mutation_p.A82V|RHBDL3_uc010csy.1_Intron|RHBDL3_uc002hhf.1_Intron	1	1		benign(0.17)	p.A82V	NM_138328	NP_612201		tolerated(0.09)	1	RHBL3_HUMAN	RHBDL3	HGNC	P58872	RHBL3_HUMAN			Q495Y4_HUMAN		3	259	+		Breast(31;0.116)|Ovarian(249;0.182)	UPI0000133858	82			EF-hand 2.		SNV	RHBDL3,missense_variant,p.Ala82Val,ENST00000269051,NM_138328.2;RHBDL3,missense_variant,p.Ala74Val,ENST00000538145,;RHBDL3,missense_variant,p.Ala82Val,ENST00000431505,;RHBDL3,intron_variant,,ENST00000536287,;RP11-443G13.2,upstream_gene_variant,,ENST00000584815,;RHBDL3,non_coding_transcript_exon_variant,,ENST00000582967,;RHBDL3,intron_variant,,ENST00000578006,;	uc002hhe.1	c.245C>T	259/4661	2	2			c.245C>T						17	SNP	c.(244-246)GCC>GTC	36	36			ovary(1)	1	Broad	rhomboid protease 3			30611787		0.592	ENSG00000141314	13106	g.chr17:30611787C>T	proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity							-24.783649	KEEP	3	0	-1	69	91	3	0	-1	6.402025	69	91	0.024194	1	0	0	0	0	1	0	0	0	--	--		0	T			RHBDL3_uc010csw.1_Missense_Mutation_p.A74V|RHBDL3_uc010csx.1_Missense_Mutation_p.A82V|RHBDL3_uc010csy.1_Intron|RHBDL3_uc002hhf.1_Intron	246	GBM-32-4211-TP	p.A82V	C	CTGGCTCTTGCCGACAGCCAC	NM_138328	NP_612201	30611787	P58872	RHBL3_HUMAN	0			3	259	+	T	T		Breast(31;0.116)|Ovarian(249;0.182)	Missense_Mutation	82			EF-hand 2.			
RHOBTB2	23221	broad.mit.edu	GRCh37	8	22864290	22864290	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01	TCGA-06-2557-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000519685.1:c.598G>A	p.Ala200Thr	p.A200T	ENST00000519685	NM_001160036.1	200	Gcc/Acc	0			1			A	A/T	uc003xcq.2	protein_coding		CCDS6034.1			532/2184									ovary(1)|lung(1)	2	c.(532-534)GCC>ACC			Superfamily_domains:SSF52540,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00174,Gene3D:3.40.50.300,Pfam_domain:PF00071,hmmpanther:PTHR24072,hmmpanther:PTHR24072:SF137,PROSITE_profiles:PS51420	Rho-related BTB domain containing 2 isoform 3				ENSP00000251822		10-May									COSM3412921	10-May	.		ENST00000251822	Transcript			regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	ENSG00000008853	g.chr8:22864290G>A	18756			MODERATE		3.04	medium	getma.org/?cm=msa&ty=f&p=RHBT2_HUMAN&rb=16&re=209&var=A178T	getma.org/pdb.php?prot=RHBT2_HUMAN&from=16&to=209&var=A178T	getma.org/?cm=var&var=hg19,8,22864290,G,A&fts=all	A178T	--	--	1																																		RHOBTB2_uc003xcp.2_Missense_Mutation_p.A200T|RHOBTB2_uc011kzp.1_Missense_Mutation_p.A185T|uc003xcr.2_RNA	1			possibly_damaging(0.802)	p.A178T	NM_015178	NP_055993		deleterious(0)	1	RHBT2_HUMAN	RHOBTB2	HGNC	Q9BYZ6	RHBT2_HUMAN		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)			5	1069	+		Prostate(55;0.0513)|Breast(100;0.214)	UPI000013342C	178			Rho-like.		SNV	RHOBTB2,missense_variant,p.Ala178Thr,ENST00000251822,NM_015178.2;RHOBTB2,missense_variant,p.Ala185Thr,ENST00000522948,NM_001160037.1;RHOBTB2,missense_variant,p.Ala200Thr,ENST00000519685,NM_001160036.1;RHOBTB2,downstream_gene_variant,,ENST00000524077,;RP11-875O11.1,non_coding_transcript_exon_variant,,ENST00000502083,;RP11-875O11.1,intron_variant,,ENST00000523884,;RHOBTB2,downstream_gene_variant,,ENST00000523918,;RHOBTB2,downstream_gene_variant,,ENST00000517528,;RHOBTB2,upstream_gene_variant,,ENST00000519210,;	uc003xcq.2	c.532G>A	1069/5451	2	2			c.532G>A						8	SNP	c.(532-534)GCC>ACC	48	48			ovary(1)|lung(1)	2	Broad	Rho-related BTB domain containing 2 isoform 3			22864290		0.577	ENSG00000008853	13117	g.chr8:22864290G>A	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding							-21.068802	KEEP	0	4	-1	57	65	0	4	-1	6.835921	57	65	0.033898	1	0	0	0	0	1	0	0	0	--	--		0	A			RHOBTB2_uc003xcp.2_Missense_Mutation_p.A200T|RHOBTB2_uc011kzp.1_Missense_Mutation_p.A185T|uc003xcr.2_RNA	81	GBM-06-2557-TP	p.A178T	G	TCGGGAGGTGGCCAAGGAGCT	NM_015178	NP_055993	22864290	Q9BYZ6	RHBT2_HUMAN	0		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	5	1069	+	A	A		Prostate(55;0.0513)|Breast(100;0.214)	Missense_Mutation	178			Rho-like.			
RHOG	0	broad.mit.edu	GRCh37	11	3849147	3849147	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000351018.4:c.222G>A	p.Gln74=	p.Q74=	ENST00000351018	NM_001665.3	74	caG/caA	0			1			T	Q	uc001lyu.2	protein_coding	YES	CCDS7748.1			222/576										0	c.(220-222)CAG>CAA			PROSITE_profiles:PS51420,hmmpanther:PTHR24072:SF150,hmmpanther:PTHR24072,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,SMART_domains:SM00173,Superfamily_domains:SSF52540	ras homolog gene family, member G precursor				ENSP00000339467		2-Feb									COSM3397669	2-Feb	.		ENST00000351018	Transcript			actin cytoskeleton organization|activation of Rac GTPase activity|axon guidance|cell chemotaxis|platelet activation|positive regulation of cell proliferation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of transcription, DNA-dependent|Rac protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding	ENSG00000177105	g.chr11:3849147C>T	672			LOW								--	--	1																																			1	1			p.Q74Q	NM_001665	NP_001656			1	RHOG_HUMAN	RHOG	HGNC	P84095	RHOG_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)	Q6ICQ8_HUMAN		2	380	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	UPI00000266CB	74					SNV	RHOG,synonymous_variant,p.=,ENST00000351018,NM_001665.3;RHOG,synonymous_variant,p.=,ENST00000396979,;RHOG,synonymous_variant,p.=,ENST00000396978,;RHOG,synonymous_variant,p.=,ENST00000533217,;PGAP2,downstream_gene_variant,,ENST00000278243,NM_014489.3;PGAP2,downstream_gene_variant,,ENST00000396991,NM_001256236.1;PGAP2,downstream_gene_variant,,ENST00000300730,NM_001145438.2,NM_001256239.1;PGAP2,downstream_gene_variant,,ENST00000396986,NM_001256237.1,NM_001283038.1;PGAP2,downstream_gene_variant,,ENST00000493547,NM_001256238.1;PGAP2,downstream_gene_variant,,ENST00000532523,NM_001283039.1;PGAP2,downstream_gene_variant,,ENST00000396993,;PGAP2,downstream_gene_variant,,ENST00000496834,;PGAP2,downstream_gene_variant,,ENST00000464906,;PGAP2,downstream_gene_variant,,ENST00000465307,;PGAP2,downstream_gene_variant,,ENST00000463452,NM_001256240.1;PGAP2,downstream_gene_variant,,ENST00000479072,;PGAP2,downstream_gene_variant,,ENST00000464261,;PGAP2,downstream_gene_variant,,ENST00000469307,;PGAP2,downstream_gene_variant,,ENST00000459679,;PGAP2,downstream_gene_variant,,ENST00000464441,;PGAP2,downstream_gene_variant,,ENST00000532535,;PGAP2,downstream_gene_variant,,ENST00000532017,;PGAP2,downstream_gene_variant,,ENST00000489571,;PGAP2,downstream_gene_variant,,ENST00000528216,NM_001256235.1;PGAP2,downstream_gene_variant,,ENST00000492246,;PGAP2,downstream_gene_variant,,ENST00000477358,;PGAP2,downstream_gene_variant,,ENST00000528526,;PGAP2,downstream_gene_variant,,ENST00000465237,;PGAP2,downstream_gene_variant,,ENST00000478773,;PGAP2,downstream_gene_variant,,ENST00000464229,;PGAP2,downstream_gene_variant,,ENST00000464590,;PGAP2,downstream_gene_variant,,ENST00000485602,;PGAP2,downstream_gene_variant,,ENST00000483829,;PGAP2,downstream_gene_variant,,ENST00000490830,;PGAP2,downstream_gene_variant,,ENST00000487112,;PGAP2,downstream_gene_variant,,ENST00000495026,;PGAP2,downstream_gene_variant,,ENST00000475884,;PGAP2,downstream_gene_variant,,ENST00000525937,;PGAP2,downstream_gene_variant,,ENST00000527810,;PGAP2,downstream_gene_variant,,ENST00000529944,;PGAP2,downstream_gene_variant,,ENST00000524661,;PGAP2,downstream_gene_variant,,ENST00000534498,;	uc001lyu.2	c.222G>A	380/1319	1	1			c.222G>A						11	SNP	c.(220-222)CAG>CAA	7	7				0	Broad	ras homolog gene family, member G precursor			3849147		0.602	ENSG00000177105	13122	g.chr11:3849147C>T	actin cytoskeleton organization|activation of Rac GTPase activity|axon guidance|cell chemotaxis|platelet activation|positive regulation of cell proliferation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of transcription, DNA-dependent|Rac protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding							-12.517814	KEEP	1	6	-1	66	48	1	6	-1	9.263643	66	48	0.049505	1	0	0	0	0	0	0	1	0	--	--		0	T				122	GBM-12-0692-TP	p.Q74Q	C	AAACGTTGGTCTGAGGGTAGG	NM_001665	NP_001656	3849147	P84095	RHOG_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)	2	380	-	T	T		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	Silent	74						
RHOQ	23433	broad.mit.edu	GRCh37	2	46803312	46803312	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-02-2486-01	TCGA-02-2486-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000238738.4:c.288T>A	p.Phe96Leu	p.F96L	ENST00000238738	NM_012249.3	96	ttT/ttA	0			1			A	F/L	uc002rva.2	protein_coding	YES	CCDS33191.1			288/618									skin(2)	2	c.(286-288)TTT>TTA			PROSITE_profiles:PS51420,hmmpanther:PTHR24072,hmmpanther:PTHR24072:SF13,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,SMART_domains:SM00174,SMART_domains:SM00173,SMART_domains:SM00175,Superfamily_domains:SSF52540	ras-like protein TC10 precursor				ENSP00000238738		5-Mar									COSM3407876	5-Mar	.		ENST00000238738	Transcript			cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding	ENSG00000119729	g.chr2:46803312T>A	17736			MODERATE		1.26	low	getma.org/?cm=msa&ty=f&p=RHOQ_HUMAN&rb=11&re=184&var=F96L	getma.org/pdb.php?prot=RHOQ_HUMAN&from=11&to=184&var=F96L	getma.org/?cm=var&var=hg19,2,46803312,T,A&fts=all	F96L	--	--	1																																		uc002rvb.2_Intron	1	1		possibly_damaging(0.622)	p.F96L	NM_012249	NP_036381		deleterious(0.04)	1	RHOQ_HUMAN	RHOQ	HGNC	P17081	RHOQ_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		E5RFZ3_HUMAN		3	607	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	UPI0000073EEC	96					SNV	RHOQ,missense_variant,p.Phe96Leu,ENST00000238738,NM_012249.3;RHOQ,missense_variant,p.Phe17Leu,ENST00000482449,;PIGF,downstream_gene_variant,,ENST00000281382,NM_002643.3;RP11-417F21.1,intron_variant,,ENST00000506009,;RHOQ,non_coding_transcript_exon_variant,,ENST00000465198,;RHOQ,3_prime_UTR_variant,,ENST00000489471,;RHOQ,3_prime_UTR_variant,,ENST00000473428,;RHOQ,3_prime_UTR_variant,,ENST00000432183,;RHOQ,non_coding_transcript_exon_variant,,ENST00000494370,;RHOQ,upstream_gene_variant,,ENST00000489448,;	uc002rva.2	c.288T>A	607/2975	2	2			c.288T>A						2	SNP	c.(286-288)TTT>TTA	36	36			skin(2)	2	Broad	ras-like protein TC10 precursor			46803312		0.418	ENSG00000119729	13125	g.chr2:46803312T>A	cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding							125.605854	KEEP	38	15	-1	42	57	38	15	-1	128.5147	42	57	0.343284	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002rvb.2_Intron	8	GBM-02-2486-TP	p.F96L	T	CAGCCTCATTTCAAAATGTGA	NM_012249	NP_036381	46803312	P17081	RHOQ_HUMAN	0	LUSC - Lung squamous cell carcinoma(58;0.114)		3	607	+	A	A		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Missense_Mutation	96						
RHOXF1	0	broad.mit.edu	GRCh37	X	119243159	119243159	+	synonymous_variant	Silent	SNP	G	G	A	rs145568775		TCGA-87-5896-01	TCGA-87-5896-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217999.2:c.546C>T	p.Val182=	p.V182=	ENST00000217999	NM_139282.2	182	gtC/gtT	0	A:0.0003		1			A	V	uc004esk.1	protein_coding	YES	CCDS14593.1			546/555										0	c.(544-546)GTC>GTT			hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF314	Rhox homeobox family, member 1			A:0	ENSP00000217999		3-Mar	7.41E-05	0.000257				9.49E-05			rs145568775,COSM3405892	3-Mar	.		ENST00000217999	Transcript			gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000101883	g.chrX:119243159G>A	29993			LOW								--	--	1																																		uc004esi.1_Intron	0,1	1			p.V182V	NM_139282	NP_644811			0,1	RHXF1_HUMAN	RHOXF1	HGNC	Q8NHV9	RHXF1_HUMAN					3	621	-			UPI0000046608	182					SNV	RHOXF1,synonymous_variant,p.=,ENST00000217999,NM_139282.2;RP4-755D9.1,intron_variant,,ENST00000553843,;	uc004esk.1	c.546C>T	621/769	2	2			c.546C>T						23	SNP	c.(544-546)GTC>GTT	20	20				0	Broad	Rhox homeobox family, member 1			119243159		0.507	ENSG00000101883	13130	g.chrX:119243159G>A	gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							53.254918	KEEP	11	9	-1	19	10	11	9	-1	53.568524	19	10	0.409091	1	0	0	0	0	0	0	1	0	--	--		0	A			uc004esi.1_Intron	291	GBM-87-5896-TP	p.V182V	G	GCTAGTCCACGACGATGTAGA	NM_139282	NP_644811	119243159	Q8NHV9	RHXF1_HUMAN	0			3	621	-	A	A			Silent	182						
RHOXF1	158800		GRCh37	X	119249400	119249400	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000217999.2:c.373A>T	p.Thr125Ser	p.T125S	ENST00000217999	NM_139282.2	125	Act/Tct	0																																																																																																																																																																																																																																												
RHPN1	0	broad.mit.edu	GRCh37	8	144462083	144462083	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000289013.6:c.1030G>A	p.Val344Met	p.V344M	ENST00000289013	NM_052924.2	344	Gtg/Atg	0			1			A	V/M	uc003yyb.2	protein_coding	YES	CCDS47927.1			1030/2013									large_intestine(1)	1	c.(1030-1032)GTG>ATG			Gene3D:2xs1A01,Pfam_domain:PF03097,PROSITE_profiles:PS51180,hmmpanther:PTHR23031,hmmpanther:PTHR23031:SF6,SMART_domains:SM01041	rhophilin 1				ENSP00000289013		15-Sep									COSM3412802,COSM3412801	15-Sep	.		ENST00000289013	Transcript			signal transduction	intracellular		ENSG00000158106	g.chr8:144462083G>A	19973			MODERATE		2.47	medium	getma.org/?cm=msa&ty=f&p=RHPN1_HUMAN&rb=108&re=536&var=V344M	getma.org/pdb.php?prot=RHPN1_HUMAN&from=108&to=536&var=V344M	getma.org/?cm=var&var=hg19,8,144462083,G,A&fts=all	V344M	--	--	1																																			1,1	1		probably_damaging(0.971)	p.V344M	NM_052924	NP_443156		deleterious(0.02)	1,1	RHPN1_HUMAN	RHPN1	HGNC	Q8TCX5	RHPN1_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)				9	1163	+	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		UPI0000071870	344			BRO1.		SNV	RHPN1,missense_variant,p.Val344Met,ENST00000289013,NM_052924.2;RHPN1,non_coding_transcript_exon_variant,,ENST00000522335,;RHPN1,non_coding_transcript_exon_variant,,ENST00000522899,;	uc003yyb.2	c.1030G>A	1131/3683	2	2			c.1030G>A						8	SNP	c.(1030-1032)GTG>ATG	48	48			large_intestine(1)	1	Broad	rhophilin 1			144462083		0.657	ENSG00000158106	13133	g.chr8:144462083G>A	signal transduction	intracellular								20.223715	KEEP	5	2	-1	3	4	5	2	-1	20.223715	3	4	0.5	1	0	0	0	0	1	0	0	0	--	--		0	A				162	GBM-19-2620-TP	p.V344M	G	GACTGCCCTGGTGCATGTCAA	NM_052924	NP_443156	144462083	Q8TCX5	RHPN1_HUMAN	0	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)		9	1163	+	A	A	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	344			BRO1.			
RIBC1	0	broad.mit.edu	GRCh37	X	53455349	53455349	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-2524-01	TCGA-27-2524-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375327.3:c.318G>A	p.Lys106=	p.K106=	ENST00000375327	NM_001031745.3	106	aaG/aaA	0			1			A	K	uc004dsk.2	protein_coding	YES	CCDS35299.1			318/1140										0	c.(316-318)AAG>AAA			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF05914,hmmpanther:PTHR14517:SF8,hmmpanther:PTHR14517	RIB43A domain with coiled-coils 1 isoform 1				ENSP00000364476		8-May									COSM3406475,COSM3406474	8-May	.		ENST00000375327	Transcript						ENSG00000158423	g.chrX:53455349G>A	26537			LOW								--	--	1																																		RIBC1_uc004dsj.1_Silent_p.K106K|RIBC1_uc011mog.1_Intron	1,1	1			p.K106K	NM_001031745	NP_001026915			1,1	RIBC1_HUMAN	RIBC1	HGNC	Q8N443	RIBC1_HUMAN					5	471	+			UPI0000049C83	106			Potential.		SNV	RIBC1,synonymous_variant,p.=,ENST00000457095,NM_144968.3;RIBC1,synonymous_variant,p.=,ENST00000375327,NM_001031745.3;RIBC1,synonymous_variant,p.=,ENST00000329209,;RIBC1,intron_variant,,ENST00000414955,NM_001267053.2;HSD17B10,downstream_gene_variant,,ENST00000168216,NM_001037811.2,NM_004493.2;HSD17B10,downstream_gene_variant,,ENST00000375304,;HSD17B10,downstream_gene_variant,,ENST00000375298,;RP3-339A18.6,downstream_gene_variant,,ENST00000418049,;HSD17B10,downstream_gene_variant,,ENST00000495986,;HSD17B10,downstream_gene_variant,,ENST00000477706,;RIBC1,upstream_gene_variant,,ENST00000490702,;	uc004dsk.2	c.318G>A	471/1416	1	1			c.318G>A						23	SNP	c.(316-318)AAG>AAA	52	52				0	Broad	RIB43A domain with coiled-coils 1 isoform 1			53455349		0.512	ENSG00000158423	13135	g.chrX:53455349G>A										97.213583	KEEP	12	18	-1	7	7	12	18	-1	98.246442	7	7	0.666667	1	0	0	0	0	0	0	1	0	--	--		0	A			RIBC1_uc004dsj.1_Silent_p.K106K|RIBC1_uc011mog.1_Intron	202	GBM-27-2524-TP	p.K106K	G	AGCAGCTCAAGAACGGGCGTG	NM_001031745	NP_001026915	53455349	Q8N443	RIBC1_HUMAN	0			5	471	+	A	A			Silent	106			Potential.			
RIBC2	0	broad.mit.edu	GRCh37	22	45813805	45813805	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs137932273		TCGA-28-5220-01	TCGA-28-5220-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342894.3:c.316C>T	p.Arg106Cys	p.R106C	ENST00000342894		106	Cgt/Tgt	0	T:0	T:0	1	T:0		T	R/C	uc011aqs.1	protein_coding					316/930										0	c.(520-522)CGT>TGT			Pfam_domain:PF05914,hmmpanther:PTHR14517,hmmpanther:PTHR14517:SF2	RIB43A domain with coiled-coils 2		T:0	T:0.0001	ENSP00000342529	T:0.001	7-Mar	5.77E-05	0.000129				0.000111			rs137932273,COSM3405718	7-Mar	.		ENST00000342894	Transcript		T:0.0002				ENSG00000128408	g.chr22:45813805C>T	13241			MODERATE								--	--	1																																			0,1			probably_damaging(0.976)	p.R174C	NM_015653	NP_056468	T:0	tolerated(0.06)	0,1	RIBC2_HUMAN	RIBC2	HGNC	Q9H4K1	RIBC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)			4	729	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	UPI00000710B5	106					SNV	RIBC2,missense_variant,p.Arg106Cys,ENST00000342894,;RIBC2,missense_variant,p.Arg174Cys,ENST00000538017,NM_015653.4;SMC1B,upstream_gene_variant,,ENST00000357450,NM_148674.3;SMC1B,upstream_gene_variant,,ENST00000404354,;RIBC2,upstream_gene_variant,,ENST00000466226,;RIBC2,non_coding_transcript_exon_variant,,ENST00000498265,;	uc011aqs.1	c.520C>T	730/1478	2	2			c.520C>T						22	SNP	c.(520-522)CGT>TGT	35	35				0	Broad	RIB43A domain with coiled-coils 2			45813805		0.418	ENSG00000128408	13136	g.chr22:45813805C>T										68.917585	KEEP	11	13	-1	13	19	11	13	-1	69.175651	13	19	0.425926	1	0	0	0	0	1	0	0	0	--	--		0	T				226	GBM-28-5220-TP	p.R174C	C	GAAGAACGCCCGTGCTGAACA	NM_015653	NP_056468	45813805	Q9H4K1	RIBC2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	4	729	+	T	T		Ovarian(80;0.00965)|all_neural(38;0.0416)	Missense_Mutation	106						
RIC3	79608		GRCh37	11	8190435	8190435	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000309737.6:c.102G>T	p.Gln34His	p.Q34H	ENST00000309737		34	caG/caT	0																																																																																																																																																																																																																																												
RIC8A	60626	broad.mit.edu	GRCh37	11	209578	209578	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01	TCGA-06-0744-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325207.5:c.304G>A	p.Glu102Lys	p.E102K	ENST00000325207	NM_021932.4	102	Gag/Aag	0			1			A	E/K	uc001log.2	protein_coding		CCDS65982.1			304/1596										0	c.(304-306)GAG>AAG			hmmpanther:PTHR12425,hmmpanther:PTHR12425:SF4,Pfam_domain:PF10165,Superfamily_domains:SSF48371	resistance to inhibitors of cholinesterase 8				ENSP00000432008		10-Mar									COSM2151623	10-Mar	.		ENST00000526104	Transcript				cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	ENSG00000177963	g.chr11:209578G>A	29550			MODERATE		1.645	low	getma.org/?cm=msa&ty=f&p=RIC8A_HUMAN&rb=66&re=514&var=E102K	NA	getma.org/?cm=var&var=hg19,11,209578,G,A&fts=all	E102K	--	--	1																																		BET1L_uc001loe.2_5'Flank|BET1L_uc001lod.2_5'Flank|RIC8A_uc001lof.2_Missense_Mutation_p.E102K|RIC8A_uc001loh.2_Missense_Mutation_p.E95K	1			benign(0.046)	p.E102K	NM_021932	NP_068751		tolerated(0.13)	1	RIC8A_HUMAN	RIC8A	HGNC	Q9NPQ8	RIC8A_HUMAN		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	E9PMP0_HUMAN		3	629	+		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	UPI000006DE38	102					SNV	RIC8A,missense_variant,p.Glu102Lys,ENST00000526104,NM_001286134.1;RIC8A,missense_variant,p.Glu102Lys,ENST00000325207,NM_021932.4;RIC8A,missense_variant,p.Glu96Lys,ENST00000527696,;RIC8A,missense_variant,p.Glu106Lys,ENST00000530889,;RIC8A,missense_variant,p.Glu78Lys,ENST00000528357,;RIC8A,5_prime_UTR_variant,,ENST00000527468,;BET1L,upstream_gene_variant,,ENST00000325147,;BET1L,upstream_gene_variant,,ENST00000382762,NM_016526.4,NM_001098787.1;RIC8A,upstream_gene_variant,,ENST00000527728,;BET1L,upstream_gene_variant,,ENST00000486280,;RIC8A,upstream_gene_variant,,ENST00000524854,;BET1L,upstream_gene_variant,,ENST00000410108,;BET1L,upstream_gene_variant,,ENST00000529614,;BET1L,upstream_gene_variant,,ENST00000332865,;RIC8A,upstream_gene_variant,,ENST00000529275,;RP11-304M2.5,downstream_gene_variant,,ENST00000526963,;RIC8A,upstream_gene_variant,,ENST00000531541,;RIC8A,3_prime_UTR_variant,,ENST00000526982,;RIC8A,non_coding_transcript_exon_variant,,ENST00000532373,;RIC8A,upstream_gene_variant,,ENST00000530149,;BET1L,upstream_gene_variant,,ENST00000479463,;RIC8A,upstream_gene_variant,,ENST00000527039,;RIC8A,upstream_gene_variant,,ENST00000526557,;RIC8A,upstream_gene_variant,,ENST00000532241,;	uc001log.2	c.304G>A	1648/3703	1	1			c.304G>A						11	SNP	c.(304-306)GAG>AAG	62	62				0	Broad	resistance to inhibitors of cholinesterase 8			209578		0.617	ENSG00000177963	13138	g.chr11:209578G>A		cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity							118.311018	KEEP	24	18	-1	30	22	24	18	-1	118.558849	30	22	0.443182	1	0	0	0	0	1	0	0	0	--	--		0	A			BET1L_uc001loe.2_5'Flank|BET1L_uc001lod.2_5'Flank|RIC8A_uc001lof.2_Missense_Mutation_p.E102K|RIC8A_uc001loh.2_Missense_Mutation_p.E95K	66	GBM-06-0744-TP	p.E102K	G	CTCTGTCTCTGAGGGGTCCGT	NM_021932	NP_068751	209578	Q9NPQ8	RIC8A_HUMAN	0		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	3	629	+	A	A		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	Missense_Mutation	102						
RIC8A	0	broad.mit.edu	GRCh37	11	209871	209871	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5958-01	TCGA-19-5958-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000526104.1:c.597G>A	p.Thr199=	p.T199=	ENST00000526104	NM_001286134.1	199	acG/acA	0			1			A	T	uc001log.2	protein_coding		CCDS65982.1			597/1596										0	c.(595-597)ACG>ACA			hmmpanther:PTHR12425,hmmpanther:PTHR12425:SF4,Pfam_domain:PF10165,Superfamily_domains:SSF48371	resistance to inhibitors of cholinesterase 8				ENSP00000432008		10-Mar	2.47E-05			0.000348					rs763968936,COSM2156842	10-Mar	.		ENST00000526104	Transcript				cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	ENSG00000177963	g.chr11:209871G>A	29550			LOW								--	--	1																																		BET1L_uc001loe.2_5'Flank|BET1L_uc001lod.2_5'Flank|RIC8A_uc001lof.2_Silent_p.T199T|RIC8A_uc001loh.2_Silent_p.T192T	0,1				p.T199T	NM_021932	NP_068751			0,1	RIC8A_HUMAN	RIC8A	HGNC	Q9NPQ8	RIC8A_HUMAN		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	E9PMP0_HUMAN		3	922	+		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	UPI000006DE38	199					SNV	RIC8A,synonymous_variant,p.=,ENST00000526104,NM_001286134.1;RIC8A,synonymous_variant,p.=,ENST00000325207,NM_021932.4;RIC8A,synonymous_variant,p.=,ENST00000527696,;RIC8A,synonymous_variant,p.=,ENST00000527728,;BET1L,upstream_gene_variant,,ENST00000325147,;BET1L,upstream_gene_variant,,ENST00000382762,NM_016526.4,NM_001098787.1;BET1L,upstream_gene_variant,,ENST00000486280,;RIC8A,upstream_gene_variant,,ENST00000524854,;BET1L,upstream_gene_variant,,ENST00000410108,;RIC8A,downstream_gene_variant,,ENST00000527468,;RIC8A,downstream_gene_variant,,ENST00000530889,;BET1L,upstream_gene_variant,,ENST00000529614,;BET1L,upstream_gene_variant,,ENST00000332865,;RIC8A,downstream_gene_variant,,ENST00000528357,;RIC8A,upstream_gene_variant,,ENST00000529275,;RP11-304M2.5,downstream_gene_variant,,ENST00000526963,;RIC8A,upstream_gene_variant,,ENST00000531541,;RIC8A,3_prime_UTR_variant,,ENST00000526982,;RIC8A,non_coding_transcript_exon_variant,,ENST00000527039,;RIC8A,upstream_gene_variant,,ENST00000530149,;BET1L,upstream_gene_variant,,ENST00000479463,;RIC8A,upstream_gene_variant,,ENST00000526557,;RIC8A,downstream_gene_variant,,ENST00000532373,;RIC8A,upstream_gene_variant,,ENST00000532241,;	uc001log.2	c.597G>A	1941/3703	1	1			c.597G>A						11	SNP	c.(595-597)ACG>ACA	53	53				0	Broad	resistance to inhibitors of cholinesterase 8			209871		0.602	ENSG00000177963	13138	g.chr11:209871G>A		cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity							58.831012	KEEP	11	11	-1	22	29	11	11	-1	60.708937	22	29	0.323529	1	0	0	0	0	0	0	1	0	--	--		0	A			BET1L_uc001loe.2_5'Flank|BET1L_uc001lod.2_5'Flank|RIC8A_uc001lof.2_Silent_p.T199T|RIC8A_uc001loh.2_Silent_p.T192T	176	GBM-19-5958-TP	p.T199T	G	TGGAGCTGACGCTGGGGGTGA	NM_021932	NP_068751	209871	Q9NPQ8	RIC8A_HUMAN	0		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	3	922	+	A	A		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	Silent	199						
RIC8B	0	broad.mit.edu	GRCh37	12	107208579	107208579	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-12-0615-01	TCGA-12-0615-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392839.2:c.238T>G	p.Leu80Val	p.L80V	ENST00000392839	NM_018157.2	80	Tta/Gta	0			1			G	L/V	uc001tlx.2	protein_coding	YES	CCDS9109.2			238/1563									ovary(1)	1	c.(238-240)TTA>GTA			Gene3D:1.25.10.10,Pfam_domain:PF10165,hmmpanther:PTHR12425,hmmpanther:PTHR12425:SF2,Superfamily_domains:SSF48371	resistance to inhibitors of cholinesterase 8				ENSP00000376583		9-Mar									COSM2153498,COSM2153499	9-Mar	.		ENST00000392839	Transcript			regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity	ENSG00000111785	g.chr12:107208579T>G	25555			MODERATE		2.645	medium	getma.org/?cm=msa&ty=f&p=RIC8B_HUMAN&rb=66&re=486&var=L80V	NA	getma.org/?cm=var&var=hg19,12,107208579,T,G&fts=all	L80V	--	--	1																																		RIC8B_uc001tlw.2_Missense_Mutation_p.L80V|RIC8B_uc001tly.2_Missense_Mutation_p.L40V|RIC8B_uc001tlz.2_RNA	1,1	1		probably_damaging(0.999)	p.L80V	NM_018157	NP_060627		deleterious(0.02)	1,1	RIC8B_HUMAN	RIC8B	HGNC	Q9NVN3	RIC8B_HUMAN			F8VR30_HUMAN		3	363	+			UPI00001FB46B	80					SNV	RIC8B,missense_variant,p.Leu80Val,ENST00000392837,;RIC8B,missense_variant,p.Leu40Val,ENST00000355478,;RIC8B,missense_variant,p.Leu80Val,ENST00000392839,NM_018157.2;RIC8B,missense_variant,p.Leu64Val,ENST00000552619,;RIC8B,intron_variant,,ENST00000548914,;RIC8B,intron_variant,,ENST00000549643,;RIC8B,missense_variant,p.Leu80Val,ENST00000462949,;RIC8B,3_prime_UTR_variant,,ENST00000550215,;RIC8B,non_coding_transcript_exon_variant,,ENST00000470628,;	uc001tlx.2	c.238T>G	344/2440	3	3			c.238T>G						12	SNP	c.(238-240)TTA>GTA	7	7			ovary(1)	1	Broad	resistance to inhibitors of cholinesterase 8			107208579		0.413	ENSG00000111785	13139	g.chr12:107208579T>G	regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity							249.867067	KEEP	33	42	-1	44	52	33	42	-1	250.109791	44	52	0.456954	1	0	0	0	0	1	0	0	0	--	--		0	G			RIC8B_uc001tlw.2_Missense_Mutation_p.L80V|RIC8B_uc001tly.2_Missense_Mutation_p.L40V|RIC8B_uc001tlz.2_RNA	117	GBM-12-0615-TP	p.L80V	T	CAAAAAGGTTTTAGTTCCTGT	NM_018157	NP_060627	107208579	Q9NVN3	RIC8B_HUMAN	0			3	363	+	G	G			Missense_Mutation	80						
RIC8B	0	broad.mit.edu	GRCh37	12	107177813	107177814	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-26-5139-01	TCGA-26-5139-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392839.2:c.127dupA	p.Arg43LysfsTer6	p.R43Kfs*6	ENST00000392839	NM_018157.2	41	-/A	0			1			A	-/X	uc001tlx.2	protein_coding	YES	CCDS9109.2			123-124/1563									ovary(1)	1	c.(121-126)GATAAAfs			Gene3D:1.25.10.10,hmmpanther:PTHR12425,hmmpanther:PTHR12425:SF2	resistance to inhibitors of cholinesterase 8				ENSP00000376583		9-Feb										9-Feb	.		ENST00000392839	Transcript			regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity	ENSG00000111785	g.chr12:107177813_107177814insA	25555	4		HIGH								--	--	1																																		RIC8B_uc001tlw.2_Frame_Shift_Ins_p.D41fs|RIC8B_uc001tly.2_5'UTR|RIC8B_uc001tlz.2_RNA		1			p.D41fs	NM_018157	NP_060627				RIC8B_HUMAN	RIC8B	HGNC	Q9NVN3	RIC8B_HUMAN			F8VR30_HUMAN		2	248_249	+			UPI00001FB46B	41_42					insertion	RIC8B,frameshift_variant,p.Arg43LysfsTer6,ENST00000392837,;RIC8B,frameshift_variant,p.Arg43LysfsTer6,ENST00000392839,NM_018157.2;RIC8B,frameshift_variant,p.Arg71LysfsTer4,ENST00000548914,;RIC8B,5_prime_UTR_variant,,ENST00000355478,;RIC8B,intron_variant,,ENST00000549643,;RIC8B,intron_variant,,ENST00000552619,;RIC8B,frameshift_variant,p.Arg43LysfsTer6,ENST00000462949,;RIC8B,3_prime_UTR_variant,,ENST00000550215,;RIC8B,non_coding_transcript_exon_variant,,ENST00000470628,;	uc001tlx.2	c.123_124insA	229-230/2440	5	5			c.123_124insA						12	INS	c.(121-126)GATAAAfs	6	6			ovary(1)	1	Broad	resistance to inhibitors of cholinesterase 8			107177814		0.351	ENSG00000111785	13139	g.chr12:107177813_107177814insA	regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity																				0.32	1	0	0	1	1	0	0	0	0	--	--		0	A			RIC8B_uc001tlw.2_Frame_Shift_Ins_p.D41fs|RIC8B_uc001tly.2_5'UTR|RIC8B_uc001tlz.2_RNA	186	GBM-26-5139-TP	p.D41fs	-	CAGATGAAGATAAAAGAAAGGT	NM_018157	NP_060627	107177813	Q9NVN3	RIC8B_HUMAN	0			2	248_249	+	A	A			Frame_Shift_Ins	41_42						
RICTOR	253260	broad.mit.edu	GRCh37	5	38972038	38972038	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357387.3:c.913G>A	p.Gly305Arg	p.G305R	ENST00000357387	NM_152756.3	305	Gga/Aga	0			1			T	G/R	uc003jlp.2	protein_coding	YES	CCDS34148.1			913/5127									ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	c.(913-915)GGA>AGA			Pfam_domain:PF14664,hmmpanther:PTHR13298:SF11,hmmpanther:PTHR13298	rapamycin-insensitive companion of mTOR				ENSP00000349959		Nov-38									COSM2152142,COSM2152141	Nov-38	.		ENST00000357387	Transcript			actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	ENSG00000164327	g.chr5:38972038C>T	28611			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=RICTR_HUMAN&rb=6&re=1706&var=G305R	NA	getma.org/?cm=var&var=hg19,5,38972038,C,T&fts=all	G305R	--	--	1																																		RICTOR_uc003jlo.2_Missense_Mutation_p.G305R|RICTOR_uc010ivf.2_Missense_Mutation_p.G20R|RICTOR_uc003jlq.1_Missense_Mutation_p.G289R	1,1	1		possibly_damaging(0.861)	p.G305R	NM_152756	NP_689969		tolerated(0.15)	1,1	RICTR_HUMAN	RICTOR	HGNC	Q6R327	RICTR_HUMAN					11	937	-	all_lung(31;0.000396)		UPI00003529F3	305					SNV	RICTOR,missense_variant,p.Gly305Arg,ENST00000357387,NM_152756.3;RICTOR,missense_variant,p.Gly305Arg,ENST00000296782,NM_001285439.1;RICTOR,upstream_gene_variant,,ENST00000509567,;RICTOR,3_prime_UTR_variant,,ENST00000511516,NM_001285440.1;RICTOR,non_coding_transcript_exon_variant,,ENST00000510711,;RICTOR,non_coding_transcript_exon_variant,,ENST00000515846,;	uc003jlp.2	c.913G>A	944/9543	2	2			c.913G>A						5	SNP	c.(913-915)GGA>AGA	22	22			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	Broad	rapamycin-insensitive companion of mTOR			38972038		0.299	ENSG00000164327	13141	g.chr5:38972038C>T	actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			698			698	44.744925	KEEP	10	9	-1	25	29	10	9	-1	47.434988	25	29	0.278689	1	0	0	0	0	1	0	0	0	--	--		0	T			RICTOR_uc003jlo.2_Missense_Mutation_p.G305R|RICTOR_uc010ivf.2_Missense_Mutation_p.G20R|RICTOR_uc003jlq.1_Missense_Mutation_p.G289R	73	GBM-06-0877-TP	p.G305R	C	CCAGAATTTCCAGGTTTACAT	NM_152756	NP_689969	38972038	Q6R327	RICTR_HUMAN	0			11	937	-	T	T	all_lung(31;0.000396)		Missense_Mutation	305						
RICTOR	0	broad.mit.edu	GRCh37	5	38950386	38950386	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-14-1043-01	TCGA-14-1043-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357387.3:c.3564T>G	p.Asn1188Lys	p.N1188K	ENST00000357387	NM_152756.3	1188	aaT/aaG	0			1			C	N/K	uc003jlp.2	protein_coding	YES	CCDS34148.1			3564/5127									ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	c.(3562-3564)AAT>AAG			Pfam_domain:PF14665,hmmpanther:PTHR13298:SF11,hmmpanther:PTHR13298	rapamycin-insensitive companion of mTOR				ENSP00000349959		31/38									COSM3410263,COSM3410262	31/38	.		ENST00000357387	Transcript			actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	ENSG00000164327	g.chr5:38950386A>C	28611			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=RICTR_HUMAN&rb=6&re=1706&var=N1188K	NA	getma.org/?cm=var&var=hg19,5,38950386,A,C&fts=all	N1188K	--	--	1																																		RICTOR_uc003jlo.2_Missense_Mutation_p.N1188K|RICTOR_uc010ivf.2_Missense_Mutation_p.N903K	1,1	1		benign(0.019)	p.N1188K	NM_152756	NP_689969		tolerated(0.58)	1,1	RICTR_HUMAN	RICTOR	HGNC	Q6R327	RICTR_HUMAN					31	3588	-	all_lung(31;0.000396)		UPI00003529F3	1188					SNV	RICTOR,missense_variant,p.Asn1188Lys,ENST00000357387,NM_152756.3;RICTOR,missense_variant,p.Asn1188Lys,ENST00000296782,NM_001285439.1;RICTOR,downstream_gene_variant,,ENST00000503698,;RICTOR,3_prime_UTR_variant,,ENST00000511516,NM_001285440.1;OSMR,downstream_gene_variant,,ENST00000509237,;	uc003jlp.2	c.3564T>G	3595/9543	3	3			c.3564T>G						5	SNP	c.(3562-3564)AAT>AAG	4	4			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	Broad	rapamycin-insensitive companion of mTOR			38950386		0.358	ENSG00000164327	13141	g.chr5:38950386A>C	actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			698			698	177.672789	KEEP	33	33	-1	89	94	33	33	-1	190.114625	89	94	0.257511	1	0	0	0	0	1	0	0	0	--	--		0	C			RICTOR_uc003jlo.2_Missense_Mutation_p.N1188K|RICTOR_uc010ivf.2_Missense_Mutation_p.N903K	143	GBM-14-1043-TP	p.N1188K	A	CTGTACCAAAATTCTTGGTGA	NM_152756	NP_689969	38950386	Q6R327	RICTR_HUMAN	0			31	3588	-	C	C	all_lung(31;0.000396)		Missense_Mutation	1188						
RIF1	55183	broad.mit.edu	GRCh37	2	152322631	152322631	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-2570-01	TCGA-06-2570-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000243326.5:c.6597T>C	p.Asn2199=	p.N2199=	ENST00000243326		2199	aaT/aaC	0			1			C	N	uc002txm.2	protein_coding	YES	CCDS2194.1			6597/7419									ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15	c.(6595-6597)AAT>AAC			hmmpanther:PTHR22928	RAP1 interacting factor 1				ENSP00000243326		29/35									COSM2153117	29/35	.		ENST00000243326	Transcript			cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	ENSG00000080345	g.chr2:152322631T>C	23207			LOW								--	--	1																																		RIF1_uc002txl.2_Silent_p.N2199N|RIF1_uc002txn.2_Silent_p.N2199N|RIF1_uc002txo.2_Silent_p.N2199N|RIF1_uc002txp.2_RNA	1	1			p.N2199N	NM_018151	NP_060621			1	RIF1_HUMAN	RIF1	HGNC	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	C9J1D6_HUMAN,B4DRJ4_HUMAN		30	6727	+			UPI000023729F	2199			Interaction with condensed chromosomes in telophase.		SNV	RIF1,synonymous_variant,p.=,ENST00000243326,;RIF1,synonymous_variant,p.=,ENST00000453091,NM_001177663.1;RIF1,synonymous_variant,p.=,ENST00000430328,NM_001177665.1;RIF1,synonymous_variant,p.=,ENST00000444746,NM_018151.4;RIF1,synonymous_variant,p.=,ENST00000428287,NM_001177664.1;RIF1,synonymous_variant,p.=,ENST00000454583,;	uc002txm.2	c.6597T>C	7080/15003	3	3			c.6597T>C						2	SNP	c.(6595-6597)AAT>AAC	7	7			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15	Broad	RAP1 interacting factor 1			152322631		0.398	ENSG00000080345	13142	g.chr2:152322631T>C	cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			950			950	295.062251	KEEP	45	46	-1	66	68	45	46	-1	296.275695	66	68	0.415385	1	0	0	0	0	0	0	1	0	--	--		0	C			RIF1_uc002txl.2_Silent_p.N2199N|RIF1_uc002txn.2_Silent_p.N2199N|RIF1_uc002txo.2_Silent_p.N2199N|RIF1_uc002txp.2_RNA	91	GBM-06-2570-TP	p.N2199N	T	CACCTGTTAATAAGGTAAGGG	NM_018151	NP_060621	152322631	Q5UIP0	RIF1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.0429)	30	6727	+	C	C			Silent	2199			Interaction with condensed chromosomes in telophase.			
RILP	83547	broad.mit.edu	GRCh37	17	1551765	1551765	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-2558-01	TCGA-06-2558-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301336.6:c.700C>A	p.Arg234Ser	p.R234S	ENST00000301336	NM_031430.2	234	Cgc/Agc	0			1			T	R/S	uc002ftd.2	protein_coding	YES	CCDS11009.1			700/1206									ovary(1)	1	c.(700-702)CGC>AGC			hmmpanther:PTHR21502,hmmpanther:PTHR21502:SF7	Rab interacting lysosomal protein				ENSP00000301336		8-May									COSM2152639	8-May	.		ENST00000301336	Transcript			endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding	ENSG00000167705	g.chr17:1551765G>T	30266			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=RILP_HUMAN&rb=183&re=243&var=R234S	NA	getma.org/?cm=var&var=hg19,17,1551765,G,T&fts=all	R234S	--	--	1																																		SCARF1_uc002fsy.1_5'Flank|SCARF1_uc002fsz.1_5'Flank|SCARF1_uc002fta.1_5'Flank|SCARF1_uc010cjv.1_5'Flank	1	1		benign(0.003)	p.R234S	NM_031430	NP_113618		tolerated(0.21)	1	RILP_HUMAN	RILP	HGNC	Q96NA2	RILP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)			5	994	-			UPI0000073C49	234					SNV	RILP,missense_variant,p.Arg234Ser,ENST00000301336,NM_031430.2;RILP,missense_variant,p.Arg87Ser,ENST00000574810,;PRPF8,downstream_gene_variant,,ENST00000572621,;PRPF8,downstream_gene_variant,,ENST00000304992,NM_006445.3;SCARF1,upstream_gene_variant,,ENST00000263071,NM_145350.2,NM_003693.3;SCARF1,upstream_gene_variant,,ENST00000348987,;SCARF1,upstream_gene_variant,,ENST00000571272,;PRPF8,downstream_gene_variant,,ENST00000571958,;SCARF1,upstream_gene_variant,,ENST00000574545,;PRPF8,downstream_gene_variant,,ENST00000575116,;RILP,non_coding_transcript_exon_variant,,ENST00000570858,;RILP,non_coding_transcript_exon_variant,,ENST00000573398,;SCARF1,upstream_gene_variant,,ENST00000434376,;SCARF1,upstream_gene_variant,,ENST00000576012,;SCARF1,upstream_gene_variant,,ENST00000573852,;PRPF8,downstream_gene_variant,,ENST00000576585,;PRPF8,downstream_gene_variant,,ENST00000572723,;SCARF1,upstream_gene_variant,,ENST00000573867,;	uc002ftd.2	c.700C>A	973/1771	2	2			c.700C>A						17	SNP	c.(700-702)CGC>AGC	42	42			ovary(1)	1	Broad	Rab interacting lysosomal protein			1551765		0.637	ENSG00000167705	13143	g.chr17:1551765G>T	endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding							88.713148	KEEP	16	24	0.4	22	26	16	24	0.4	89.037407	22	26	0.424242	1	0	0	0	0	1	0	0	0	--	--		0	T			SCARF1_uc002fsy.1_5'Flank|SCARF1_uc002fsz.1_5'Flank|SCARF1_uc002fta.1_5'Flank|SCARF1_uc010cjv.1_5'Flank	82	GBM-06-2558-TP	p.R234S	G	TCCGAGGGGCGCCCGAGCTGC	NM_031430	NP_113618	1551765	Q96NA2	RILP_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	5	994	-	T	T			Missense_Mutation	234						
RIMBP2	23504	broad.mit.edu	GRCh37	12	130898833	130898833	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261655.4:c.2489G>A	p.Arg830His	p.R830H	ENST00000261655	NM_015347.4	830	cGc/cAc	0			1			T	R/H	uc001uil.2	protein_coding	YES	CCDS31925.1			2489/3159									upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	c.(2488-2490)CGC>CAC			hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF18	RIM-binding protein 2				ENSP00000261655		14/19									COSM2149103	14/19	.		ENST00000261655	Transcript				cell junction|synapse		ENSG00000060709	g.chr12:130898833C>T	30339			MODERATE		0.145	neutral	getma.org/?cm=msa&ty=f&p=RIMB2_HUMAN&rb=633&re=832&var=R830H	NA	getma.org/?cm=var&var=hg19,12,130898833,C,T&fts=all	R830H	--	--	1																																			1	1		benign(0.006)	p.R830H	NM_015347	NP_056162		tolerated(0.2)	1	RIMB2_HUMAN	RIMBP2	HGNC	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	F5H3X3_HUMAN		14	2653	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	UPI00001C1F42	830					SNV	RIMBP2,missense_variant,p.Arg830His,ENST00000261655,NM_015347.4;RIMBP2,5_prime_UTR_variant,,ENST00000536632,;	uc001uil.2	c.2489G>A	2653/6321	2	2			c.2489G>A						12	SNP	c.(2488-2490)CGC>CAC	24	24			upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	Broad	RIM-binding protein 2			130898833		0.572	ENSG00000060709	13146	g.chr12:130898833C>T		cell junction|synapse								52.736477	KEEP	14	8	-1	36	37	14	8	-1	57.862025	36	37	0.244186	1	0	0	0	0	1	0	0	0	--	--		0	T				5	GBM-02-2470-TP	p.R830H	C	TGGAGAAAGGCGGTCTCGCCC	NM_015347	NP_056162	130898833	O15034	RIMB2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	14	2653	-	T	T	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	Missense_Mutation	830						
RIMBP2	23504	broad.mit.edu	GRCh37	12	130927111	130927111	+	synonymous_variant	Silent	SNP	G	G	A	rs142303116	byFrequency	TCGA-06-0155-01	TCGA-06-0155-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261655.4:c.735C>T	p.Asn245=	p.N245=	ENST00000261655	NM_015347.4	245	aaC/aaT	0	A:0.0011	A:0.0008	1	A:0		A	N	uc001uil.2	protein_coding	YES	CCDS31925.1			735/3159									upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	c.(733-735)AAC>AAT			hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF18	RIM-binding protein 2		A:0.002	A:0	ENSP00000261655	A:0	19-Aug	0.000247	0.00231	0.000173	0.000347		1.50E-05			rs142303116,COSM2149980	19-Aug	common_variant		ENST00000261655	Transcript		A:0.0006		cell junction|synapse		ENSG00000060709	g.chr12:130927111G>A	30339			LOW								--	--	1																																		RIMBP2_uc001uim.2_Silent_p.N153N|RIMBP2_uc001uin.1_Translation_Start_Site	0,1	1			p.N245N	NM_015347	NP_056162	A:0		0,1	RIMB2_HUMAN	RIMBP2	HGNC	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	F5H3X3_HUMAN		8	899	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	UPI00001C1F42	245					SNV	RIMBP2,synonymous_variant,p.=,ENST00000261655,NM_015347.4;RIMBP2,synonymous_variant,p.=,ENST00000536002,;RIMBP2,synonymous_variant,p.=,ENST00000535703,;	uc001uil.2	c.735C>T	899/6321	1	1			c.735C>T						12	SNP	c.(733-735)AAC>AAT	52	52			upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	Broad	RIM-binding protein 2			130927111		0.602	ENSG00000060709	13146	g.chr12:130927111G>A		cell junction|synapse								159.894691	KEEP	31	30	-1	56	71	31	30	-1	163.929166	56	71	0.338983	1	0	0	0	0	0	0	1	0	--	--		0	A			RIMBP2_uc001uim.2_Silent_p.N153N|RIMBP2_uc001uin.1_Translation_Start_Site	27	GBM-06-0155-TP	p.N245N	G	GATCCTGCTCGTTCCCCAGCG	NM_015347	NP_056162	130927111	O15034	RIMB2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	8	899	-	A	A	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	Silent	245						
RIMBP2	23504	broad.mit.edu	GRCh37	12	130921520	130921520	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01	TCGA-06-0213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261655.4:c.1922C>T	p.Pro641Leu	p.P641L	ENST00000261655	NM_015347.4	641	cCg/cTg	0			1			A	P/L	uc001uil.2	protein_coding	YES	CCDS31925.1			1922/3159									upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	c.(1921-1923)CCG>CTG			Low_complexity_(Seg):seg,hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF18	RIM-binding protein 2				ENSP00000261655		19-Oct	3.31E-05			0.000136		5.44E-05			rs753433895,COSM3398527,COSM3968089	19-Oct	.		ENST00000261655	Transcript				cell junction|synapse		ENSG00000060709	g.chr12:130921520G>A	30339			MODERATE		1.955	medium	getma.org/?cm=msa&ty=f&p=RIMB2_HUMAN&rb=633&re=832&var=P641L	NA	getma.org/?cm=var&var=hg19,12,130921520,G,A&fts=all	P641L	--	--	1																																		RIMBP2_uc001uim.2_Missense_Mutation_p.P549L|RIMBP2_uc001uin.1_Missense_Mutation_p.P300L	0,1,1	1		benign(0.102)	p.P641L	NM_015347	NP_056162		tolerated(0.05)	0,1,1	RIMB2_HUMAN	RIMBP2	HGNC	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	F5H3X3_HUMAN		10	2086	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	UPI00001C1F42	641			Pro-rich.		SNV	RIMBP2,missense_variant,p.Pro641Leu,ENST00000261655,NM_015347.4;RIMBP2,missense_variant,p.Pro549Leu,ENST00000536002,;RIMBP2,missense_variant,p.Pro549Leu,ENST00000535703,;	uc001uil.2	c.1922C>T	2086/6321	1	1			c.1922C>T						12	SNP	c.(1921-1923)CCG>CTG	52	52			upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	Broad	RIM-binding protein 2			130921520		0.711	ENSG00000060709	13146	g.chr12:130921520G>A		cell junction|synapse								7.886282	KEEP	1	3	-1	11	10	1	3	-1	9.9793	11	10	0.181818	1	0	0	0	0	1	0	0	0	--	--		0	A			RIMBP2_uc001uim.2_Missense_Mutation_p.P549L|RIMBP2_uc001uin.1_Missense_Mutation_p.P300L	49	GBM-06-0213-TP	p.P641L	G	GCCCACGGGCGGCTCCAGCAT	NM_015347	NP_056162	130921520	O15034	RIMB2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	10	2086	-	A	A	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	Missense_Mutation	641			Pro-rich.			
RIMBP2	0	broad.mit.edu	GRCh37	12	130927141	130927141	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-15-0742-01	TCGA-15-0742-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261655.4:c.705C>T	p.Asn235=	p.N235=	ENST00000261655	NM_015347.4	235	aaC/aaT	0			1			A	N	uc001uil.2	protein_coding	YES	CCDS31925.1			705/3159									upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	c.(703-705)AAC>AAT			hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF18,Superfamily_domains:SSF50044	RIM-binding protein 2				ENSP00000261655		19-Aug	6.59E-05				0.000151	7.50E-05		0.000121	rs768510767,COSM430741	19-Aug	.		ENST00000261655	Transcript				cell junction|synapse		ENSG00000060709	g.chr12:130927141G>A	30339			LOW								--	--	1																																		RIMBP2_uc001uim.2_Silent_p.N143N|RIMBP2_uc001uin.1_Translation_Start_Site	0,1	1			p.N235N	NM_015347	NP_056162			0,1	RIMB2_HUMAN	RIMBP2	HGNC	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	F5H3X3_HUMAN		8	869	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	UPI00001C1F42	235					SNV	RIMBP2,synonymous_variant,p.=,ENST00000261655,NM_015347.4;RIMBP2,synonymous_variant,p.=,ENST00000536002,;RIMBP2,synonymous_variant,p.=,ENST00000535703,;	uc001uil.2	c.705C>T	869/6321	2	2			c.705C>T						12	SNP	c.(703-705)AAC>AAT	26	26			upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	Broad	RIM-binding protein 2			130927141		0.582	ENSG00000060709	13146	g.chr12:130927141G>A		cell junction|synapse								253.434334	KEEP	39	52	-1	55	40	39	52	-1	253.446191	55	40	0.491018	1	0	0	0	0	0	0	1	0	--	--		0	A			RIMBP2_uc001uim.2_Silent_p.N143N|RIMBP2_uc001uin.1_Translation_Start_Site	153	GBM-15-0742-TP	p.N235N	G	ACCGCGACTCGTTGTCCTGCA	NM_015347	NP_056162	130927141	O15034	RIMB2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	8	869	-	A	A	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	Silent	235						
RIMBP2	0	broad.mit.edu	GRCh37	12	130935764	130935764	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-16-1045-01	TCGA-16-1045-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261655.4:c.429C>T	p.Ser143=	p.S143=	ENST00000261655	NM_015347.4	143	agC/agT	0			1			A	S	uc001uil.2	protein_coding	YES	CCDS31925.1			429/3159									upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	c.(427-429)AGC>AGT			hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF18	RIM-binding protein 2				ENSP00000261655		19-May	1.65E-05		8.65E-05		0.000151				rs765478893,COSM937018,COSM4040144	19-May	.		ENST00000261655	Transcript				cell junction|synapse		ENSG00000060709	g.chr12:130935764G>A	30339			LOW								--	--	1																																		RIMBP2_uc001uim.2_Silent_p.S51S	0,1,1	1			p.S143S	NM_015347	NP_056162			0,1,1	RIMB2_HUMAN	RIMBP2	HGNC	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	F5H3X3_HUMAN		5	593	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	UPI00001C1F42	143					SNV	RIMBP2,synonymous_variant,p.=,ENST00000261655,NM_015347.4;RIMBP2,synonymous_variant,p.=,ENST00000536002,;RIMBP2,synonymous_variant,p.=,ENST00000535703,;	uc001uil.2	c.429C>T	593/6321	1	1			c.429C>T						12	SNP	c.(427-429)AGC>AGT	49	49			upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	Broad	RIM-binding protein 2			130935764		0.637	ENSG00000060709	13146	g.chr12:130935764G>A		cell junction|synapse								-8.255132	KEEP	3	5	-1	58	83	3	5	-1	17.503743	58	83	0.062016	1	0	0	0	0	0	0	1	0	--	--		0	A			RIMBP2_uc001uim.2_Silent_p.S51S	157	GBM-16-1045-TP	p.S143S	G	TGCATCTTGCGCTACCGGATC	NM_015347	NP_056162	130935764	O15034	RIMB2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	5	593	-	A	A	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	Silent	143						
RIMBP2	23504		GRCh37	12	130927081	130927081	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000261655.4:c.765C>T	p.Ser255=	p.S255=	ENST00000261655	NM_015347.4	255	tcC/tcT	0																																																																																																																																																																																																																																												
RIMBP2	23504		GRCh37	12	130898833	130898833	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2510-01	TCGA-28-2510-01																				ENST00000261655.4:c.2489G>A	p.Arg830His	p.R830H	ENST00000261655	NM_015347.4	830	cGc/cAc	0																																																																																																																																																																																																																																												
RIMBP2	23504		GRCh37	12	130907060	130907060	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000261655.4:c.2408G>A	p.Arg803Gln	p.R803Q	ENST00000261655	NM_015347.4	803	cGg/cAg	0																																																																																																																																																																																																																																												
RIMKLB	57494	broad.mit.edu	GRCh37	12	8926145	8926162	+	inframe_deletion	In_Frame_Del	DEL	CTGGCCGGCTCACCCGGC	CTGGCCGGCTCACCCGGC	-	rs34259191		TCGA-02-0047-01	TCGA-02-0047-01	CTGGCCGGCTCACCCGGC	CTGGCCGGCTCACCCGGC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357529.3:c.926_943del	p.Ser309_Arg315delinsCys	p.S309_R315delinsC	ENST00000357529	NM_020734.2	309	tCTGGCCGGCTCACCCGGCgt/tgt	0			1			-	SGRLTRR/C	uc001quu.2	protein_coding	YES	CCDS41748.1			926-943/1161										0	c.(925-945)TCTGGCCGGCTCACCCGGCGT>TGT			hmmpanther:PTHR21621,hmmpanther:PTHR21621:SF5	ribosomal modification protein rimK-like family				ENSP00000350136		7-Jul										7-Jul	.		ENST00000357529	Transcript			protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	ENSG00000166532	g.chr12:8926145_8926162delCTGGCCGGCTCACCCGGC	29228			MODERATE								--	--	1																																		RIMKLB_uc009zgf.1_Intron|RIMKLB_uc001qux.2_In_Frame_Del_p.309_315SGRLTRR>C|RIMKLB_uc010sgl.1_In_Frame_Del_p.309_315SGRLTRR>C|RIMKLB_uc001quw.2_Intron		1			p.309_315SGRLTRR>C	NM_020734	NP_065785				RIMKB_HUMAN	RIMKLB	HGNC	Q9ULI2	RIMKB_HUMAN			F5H3V4_HUMAN,F5GZH5_HUMAN		6	1177_1194	+			UPI000013E5D1	309_315					deletion	RIMKLB,inframe_deletion,p.Ser309_Arg315delinsCys,ENST00000357529,NM_020734.2;RIMKLB,inframe_deletion,p.Ser309_Arg315delinsCys,ENST00000538135,;RIMKLB,inframe_deletion,p.Ser309_Arg315delinsCys,ENST00000535829,;A2ML1-AS1,downstream_gene_variant,,ENST00000537288,;RIMKLB,intron_variant,,ENST00000299673,;RIMKLB,upstream_gene_variant,,ENST00000542232,;RIMKLB,intron_variant,,ENST00000544257,;	uc001quu.2	c.926_943delCTGGCCGGCTCACCCGGC	2188-2205/5830	5	5			c.926_943delCTGGCCGGCTCACCCGGC						12	DEL	c.(925-945)TCTGGCCGGCTCACCCGGCGT>TGT	32	32				0	Broad	ribosomal modification protein rimK-like family			8926162		0.55	ENSG00000166532	13148	g.chr12:8926145_8926162delCTGGCCGGCTCACCCGGC	protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding																				0.23	1	1	0	1	0	0	0	0	0	--	--		0	-			RIMKLB_uc009zgf.1_Intron|RIMKLB_uc001qux.2_In_Frame_Del_p.309_315SGRLTRR>C|RIMKLB_uc010sgl.1_In_Frame_Del_p.309_315SGRLTRR>C|RIMKLB_uc001quw.2_Intron	3	GBM-02-0047-TP	p.309_315SGRLTRR>C	CTGGCCGGCTCACCCGGC	CTTCTACCCTCTGGCCGGCTCACCCGGCGTATGTCCCT	NM_020734	NP_065785	8926145	Q9ULI2	RIMKB_HUMAN	0			6	1177_1194	+	-	-			In_Frame_Del	309_315						
RIMS1	0	broad.mit.edu	GRCh37	6	72957754	72957754	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-5947-01	TCGA-19-5947-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521978.1:c.2165C>A	p.Pro722His	p.P722H	ENST00000521978	NM_014989.5	722	cCt/cAt	0			1			A	P/H	uc003pga.2	protein_coding	YES	CCDS47449.1			2165/5079									ovary(7)|pancreas(2)|breast(1)	10	c.(2164-2166)CCT>CAT			hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF19	regulating synaptic membrane exocytosis 1				ENSP00000428417		Dec-34									COSM3411255	Dec-34	.		ENST00000521978	Transcript	1		calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	ENSG00000079841	g.chr6:72957754C>A	17282			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=RIMS1_HUMAN&rb=690&re=758&var=P722H	NA	getma.org/?cm=var&var=hg19,6,72957754,C,A&fts=all	P722H	--	--	1																																		RIMS1_uc011dyb.1_Missense_Mutation_p.P348H|RIMS1_uc003pgc.2_Missense_Mutation_p.P348H|RIMS1_uc010kaq.2_Missense_Mutation_p.P196H|RIMS1_uc011dyc.1_Missense_Mutation_p.P196H|RIMS1_uc010kar.2_Missense_Mutation_p.P115H|RIMS1_uc011dyd.1_Missense_Mutation_p.P181H|RIMS1_uc003pgf.2_5'Flank|RIMS1_uc003pgg.2_5'Flank|RIMS1_uc003pgi.2_5'Flank|RIMS1_uc003pgh.2_5'Flank|RIMS1_uc003pgd.2_5'Flank|RIMS1_uc003pge.2_5'Flank|RIMS1_uc003pgb.3_Missense_Mutation_p.P348H|RIMS1_uc010kas.1_Missense_Mutation_p.P181H	1	1		benign(0.261)	p.P722H	NM_014989	NP_055804		deleterious(0)	1	RIMS1_HUMAN	RIMS1	HGNC	Q86UR5	RIMS1_HUMAN					12	2242	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	UPI00001908FB	722					SNV	RIMS1,missense_variant,p.Pro722His,ENST00000264839,;RIMS1,missense_variant,p.Pro722His,ENST00000348717,;RIMS1,missense_variant,p.Pro722His,ENST00000521978,NM_014989.5;RIMS1,missense_variant,p.Pro722His,ENST00000491071,;RIMS1,missense_variant,p.Pro722His,ENST00000520567,;RIMS1,missense_variant,p.Pro722His,ENST00000517960,;RIMS1,missense_variant,p.Pro722His,ENST00000518273,;RIMS1,missense_variant,p.Pro722His,ENST00000522291,;RIMS1,missense_variant,p.Pro196His,ENST00000401910,NM_001168407.1;RIMS1,missense_variant,p.Pro296His,ENST00000517433,;RIMS1,missense_variant,p.Pro196His,ENST00000523963,NM_001168408.1;RIMS1,missense_variant,p.Pro181His,ENST00000517827,NM_001168410.1;RIMS1,missense_variant,p.Pro115His,ENST00000425662,NM_001168409.1;RIMS1,missense_variant,p.Pro115His,ENST00000453976,;RIMS1,upstream_gene_variant,,ENST00000522211,;RIMS1,upstream_gene_variant,,ENST00000538414,;RIMS1,upstream_gene_variant,,ENST00000370420,;RIMS1,non_coding_transcript_exon_variant,,ENST00000370419,;RIMS1,non_coding_transcript_exon_variant,,ENST00000524197,;	uc003pga.2	c.2165C>A	2165/5079	2	2			c.2165C>A						6	SNP	c.(2164-2166)CCT>CAT	17	17			ovary(7)|pancreas(2)|breast(1)	10	Broad	regulating synaptic membrane exocytosis 1			72957754		0.333	ENSG00000079841	13149	g.chr6:72957754C>A	calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding							22.23152	KEEP	6	8	0.571428571	45	46	6	8	0.571428571	32.707109	45	46	0.147727	1	0	0	0	0	1	0	0	0	--	--		0	A			RIMS1_uc011dyb.1_Missense_Mutation_p.P348H|RIMS1_uc003pgc.2_Missense_Mutation_p.P348H|RIMS1_uc010kaq.2_Missense_Mutation_p.P196H|RIMS1_uc011dyc.1_Missense_Mutation_p.P196H|RIMS1_uc010kar.2_Missense_Mutation_p.P115H|RIMS1_uc011dyd.1_Missense_Mutation_p.P181H|RIMS1_uc003pgf.2_5'Flank|RIMS1_uc003pgg.2_5'Flank|RIMS1_uc003pgi.2_5'Flank|RIMS1_uc003pgh.2_5'Flank|RIMS1_uc003pgd.2_5'Flank|RIMS1_uc003pge.2_5'Flank|RIMS1_uc003pgb.3_Missense_Mutation_p.P348H|RIMS1_uc010kas.1_Missense_Mutation_p.P181H	169	GBM-19-5947-TP	p.P722H	C	ATGGAAAGGCCTTCCATTTCT	NM_014989	NP_055804	72957754	Q86UR5	RIMS1_HUMAN	0			12	2242	+	A	A		all_epithelial(107;0.179)|all_hematologic(105;0.212)	Missense_Mutation	722						
RIMS1	22999		GRCh37	6	72993805	72993805	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000521978.1:c.3538G>T	p.Ala1180Ser	p.A1180S	ENST00000521978	NM_014989.5	1180	Gcc/Tcc	0																																																																																																																																																																																																																																												
RIMS2	9699	broad.mit.edu	GRCh37	8	104930679	104930679	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0124-01	TCGA-06-0124-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000406091.3:c.2047C>T	p.Arg683Ter	p.R683*	ENST00000406091	NM_001100117.2	683	Cga/Tga	0			1			T	R/*	uc003yls.2	protein_coding	YES	CCDS55269.1			2047/4050									ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15	c.(1381-1383)CGA>TGA			hmmpanther:PTHR12157:SF15,hmmpanther:PTHR12157	regulating synaptic membrane exocytosis 2				ENSP00000384892		24-Sep									COSM2149316,COSM2149315,COSM2149312,COSM2149314,COSM2149313	24-Sep	.		ENST00000406091	Transcript			intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	ENSG00000176406	g.chr8:104930679C>T	17283			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,8,104930679,C,T&fts=all	R761*	--	--	1				HNSCC(12;0.0054)																														RIMS2_uc003ylp.2_Nonsense_Mutation_p.R683*|RIMS2_uc003ylw.2_Nonsense_Mutation_p.R491*|RIMS2_uc003ylq.2_Nonsense_Mutation_p.R491*|RIMS2_uc003ylr.2_Nonsense_Mutation_p.R538*|RIMS2_uc003ylt.2_Nonsense_Mutation_p.R84*|RIMS2_uc003ylu.1_Nonsense_Mutation_p.R74*|RIMS2_uc003ylv.1_Nonsense_Mutation_p.R74*	1,1,1,1,1	1			p.R461*	NM_014677	NP_055492			1,1,1,1,1	RIMS2_HUMAN	RIMS2	HGNC	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		E9PFB6_HUMAN		7	1622	+			UPI0001597063	761					SNV	RIMS2,stop_gained,p.Arg491Ter,ENST00000507740,NM_014677.4;RIMS2,stop_gained,p.Arg461Ter,ENST00000436393,;RIMS2,stop_gained,p.Arg683Ter,ENST00000406091,NM_001100117.2;RIMS2,stop_gained,p.Arg491Ter,ENST00000408894,;RIMS2,stop_gained,p.Arg538Ter,ENST00000262231,NM_001282881.1;RIMS2,stop_gained,p.Arg683Ter,ENST00000504942,;RIMS2,stop_gained,p.Arg491Ter,ENST00000515551,;RIMS2,non_coding_transcript_exon_variant,,ENST00000501515,;RIMS2,non_coding_transcript_exon_variant,,ENST00000507677,;RIMS2,non_coding_transcript_exon_variant,,ENST00000511046,;RIMS2,non_coding_transcript_exon_variant,,ENST00000512598,;	uc003yls.2	c.1381C>T	2047/4050	5	2			c.1381C>T						8	SNP	c.(1381-1383)CGA>TGA	48	48			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15	Broad	regulating synaptic membrane exocytosis 2			104930679		0.299	ENSG00000176406	13150	g.chr8:104930679C>T	intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			728			728	45.685629	KEEP	18	11	-1	67	28	18	11	-1	54.897943	67	28	0.2	1	0	0	0	0	0	1	0	0	--	--	HNSCC(12;0.0054)	0	T			RIMS2_uc003ylp.2_Nonsense_Mutation_p.R683*|RIMS2_uc003ylw.2_Nonsense_Mutation_p.R491*|RIMS2_uc003ylq.2_Nonsense_Mutation_p.R491*|RIMS2_uc003ylr.2_Nonsense_Mutation_p.R538*|RIMS2_uc003ylt.2_Nonsense_Mutation_p.R84*|RIMS2_uc003ylu.1_Nonsense_Mutation_p.R74*|RIMS2_uc003ylv.1_Nonsense_Mutation_p.R74*	11	GBM-06-0124-TP	p.R461*	C	AGATATACCGCGAATACCTGA	NM_014677	NP_055492	104930679	Q9UQ26	RIMS2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		7	1622	+	T	T			Nonsense_Mutation	761						
RIMS2	9699	broad.mit.edu	GRCh37	8	105001613	105001613	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0171-01	TCGA-06-0171-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000406091.3:c.3008G>A	p.Arg1003His	p.R1003H	ENST00000406091	NM_001100117.2	1003	cGt/cAt	0			1			A	R/H	uc003yls.2	protein_coding	YES	CCDS55269.1			3008/4050									ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15	c.(2341-2343)CGT>CAT			hmmpanther:PTHR12157:SF15,hmmpanther:PTHR12157	regulating synaptic membrane exocytosis 2				ENSP00000384892		17/24									COSM3412646,COSM3412645,COSM3412642,COSM3412644,COSM3412643	17/24	.		ENST00000406091	Transcript			intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	ENSG00000176406	g.chr8:105001613G>A	17283			MODERATE		1.75	low	getma.org/?cm=msa&ty=f&p=RIMS2_HUMAN&rb=914&re=1113&var=R1065H	NA	getma.org/?cm=var&var=hg19,8,105001613,G,A&fts=all	R1065H	--	--	1				HNSCC(12;0.0054)																														RIMS2_uc003ylp.2_Missense_Mutation_p.R1003H|RIMS2_uc003ylw.2_Missense_Mutation_p.R795H|RIMS2_uc003ylq.2_Missense_Mutation_p.R795H|RIMS2_uc003ylr.2_Missense_Mutation_p.R842H	1,1,1,1,1	1		benign(0.003)	p.R781H	NM_014677	NP_055492		tolerated_low_confidence(0.1)	1,1,1,1,1	RIMS2_HUMAN	RIMS2	HGNC	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		E9PFB6_HUMAN		15	2583	+			UPI0001597063	1065					SNV	RIMS2,missense_variant,p.Arg795His,ENST00000507740,NM_014677.4;RIMS2,missense_variant,p.Arg781His,ENST00000436393,;RIMS2,missense_variant,p.Arg1003His,ENST00000406091,NM_001100117.2;RIMS2,missense_variant,p.Arg795His,ENST00000408894,;RIMS2,missense_variant,p.Arg842His,ENST00000262231,NM_001282881.1;RIMS2,missense_variant,p.Arg1003His,ENST00000504942,;	uc003yls.2	c.2342G>A	3008/4050	2	2			c.2342G>A						8	SNP	c.(2341-2343)CGT>CAT	32	32			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15	Broad	regulating synaptic membrane exocytosis 2			105001613		0.388	ENSG00000176406	13150	g.chr8:105001613G>A	intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			728			728	68.928866	KEEP	19	15	-1	75	68	19	15	-1	82.728125	75	68	0.194969	1	0	0	0	0	1	0	0	0	--	--	HNSCC(12;0.0054)	0	A			RIMS2_uc003ylp.2_Missense_Mutation_p.R1003H|RIMS2_uc003ylw.2_Missense_Mutation_p.R795H|RIMS2_uc003ylq.2_Missense_Mutation_p.R795H|RIMS2_uc003ylr.2_Missense_Mutation_p.R842H	35	GBM-06-0171-TP	p.R781H	G	GACAGACATCGTGTCATGGAT	NM_014677	NP_055492	105001613	Q9UQ26	RIMS2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		15	2583	+	A	A			Missense_Mutation	1065						
RIMS2	9699	broad.mit.edu	GRCh37	8	105001535	105001535	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01	TCGA-06-0173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000406091.3:c.2930G>A	p.Arg977Gln	p.R977Q	ENST00000406091	NM_001100117.2	977	cGg/cAg	0	A:0.0005	A:0.0008	1	A:0		A	R/Q	uc003yls.2	protein_coding	YES	CCDS55269.1			2930/4050									ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15	c.(2263-2265)CGG>CAG			hmmpanther:PTHR12157:SF15,hmmpanther:PTHR12157	regulating synaptic membrane exocytosis 2		A:0	A:0	ENSP00000384892	A:0	17/24	6.62E-05	0.000204	0.000433			1.50E-05			rs368813886,COSM2150418,COSM2150417,COSM2150414,COSM2150416,COSM2150415	17/24	common_variant		ENST00000406091	Transcript		A:0.0002	intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	ENSG00000176406	g.chr8:105001535G>A	17283			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=RIMS2_HUMAN&rb=914&re=1113&var=R1039Q	NA	getma.org/?cm=var&var=hg19,8,105001535,G,A&fts=all	R1039Q	--	--	1				HNSCC(12;0.0054)																														RIMS2_uc003ylp.2_Missense_Mutation_p.R977Q|RIMS2_uc003ylw.2_Missense_Mutation_p.R769Q|RIMS2_uc003ylq.2_Missense_Mutation_p.R769Q|RIMS2_uc003ylr.2_Missense_Mutation_p.R816Q	0,1,1,1,1,1	1		possibly_damaging(0.86)	p.R755Q	NM_014677	NP_055492	A:0	tolerated_low_confidence(0.35)	0,1,1,1,1,1	RIMS2_HUMAN	RIMS2	HGNC	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		E9PFB6_HUMAN		15	2505	+			UPI0001597063	1039					SNV	RIMS2,missense_variant,p.Arg769Gln,ENST00000507740,NM_014677.4;RIMS2,missense_variant,p.Arg755Gln,ENST00000436393,;RIMS2,missense_variant,p.Arg977Gln,ENST00000406091,NM_001100117.2;RIMS2,missense_variant,p.Arg769Gln,ENST00000408894,;RIMS2,missense_variant,p.Arg816Gln,ENST00000262231,NM_001282881.1;RIMS2,missense_variant,p.Arg977Gln,ENST00000504942,;	uc003yls.2	c.2264G>A	2930/4050	2	2			c.2264G>A						8	SNP	c.(2263-2265)CGG>CAG	35	35			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15	Broad	regulating synaptic membrane exocytosis 2			105001535		0.383	ENSG00000176406	13150	g.chr8:105001535G>A	intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			728			728	144.047957	KEEP	35	24	-1	64	67	35	24	-1	149.471043	64	67	0.303797	1	0	0	0	0	1	0	0	0	--	--	HNSCC(12;0.0054)	0	A			RIMS2_uc003ylp.2_Missense_Mutation_p.R977Q|RIMS2_uc003ylw.2_Missense_Mutation_p.R769Q|RIMS2_uc003ylq.2_Missense_Mutation_p.R769Q|RIMS2_uc003ylr.2_Missense_Mutation_p.R816Q	36	GBM-06-0173-TP	p.R755Q	G	TGTTTTAGTCGGAATGTGGAA	NM_014677	NP_055492	105001535	Q9UQ26	RIMS2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		15	2505	+	A	A			Missense_Mutation	1039						
RIMS2	9699	broad.mit.edu	GRCh37	8	105026843	105026843	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0188-01	TCGA-06-0188-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000406091.3:c.3334A>G	p.Lys1112Glu	p.K1112E	ENST00000406091	NM_001100117.2	1112	Aaa/Gaa	0			1			G	K/E	uc003yls.2	protein_coding	YES	CCDS55269.1			3334/4050									ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15	c.(2554-2556)AAC>GAC			hmmpanther:PTHR12157:SF15,hmmpanther:PTHR12157	regulating synaptic membrane exocytosis 2				ENSP00000384892		19/24									COSM3412650,COSM3412647,COSM3412649,COSM3412648	19/24	.		ENST00000406091	Transcript			intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	ENSG00000176406	g.chr8:105026843A>G	17283			MODERATE		-0.69	neutral	getma.org/?cm=msa&ty=f&p=RIMS2_HUMAN&rb=1114&re=1271&var=K1174E	NA	getma.org/?cm=var&var=hg19,8,105026843,A,G&fts=all	K1174E	--	--	1				HNSCC(12;0.0054)																														RIMS2_uc003ylp.2_Missense_Mutation_p.K1112E|RIMS2_uc003ylw.2_Missense_Mutation_p.N926D|RIMS2_uc003ylq.2_Missense_Mutation_p.K926E|RIMS2_uc003ylr.2_Missense_Mutation_p.K951E	1,1,1,1	1		benign(0.004)	p.N852D	NM_014677	NP_055492		tolerated_low_confidence(1)	1,1,1,1	RIMS2_HUMAN	RIMS2	HGNC	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		E9PFB6_HUMAN		17	2795	+			UPI0001597063	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					SNV	RIMS2,missense_variant,p.Lys926Glu,ENST00000507740,NM_014677.4;RIMS2,missense_variant,p.Asn852Asp,ENST00000436393,;RIMS2,missense_variant,p.Lys1112Glu,ENST00000406091,NM_001100117.2;RIMS2,missense_variant,p.Asn926Asp,ENST00000408894,;RIMS2,missense_variant,p.Lys951Glu,ENST00000262231,NM_001282881.1;RIMS2,incomplete_terminal_codon_variant,p.=,ENST00000504942,;	uc003yls.2	c.2554A>G	3334/4050	3	3			c.2554A>G						8	SNP	c.(2554-2556)AAC>GAC	13	13			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15	Broad	regulating synaptic membrane exocytosis 2			105026843		0.418	ENSG00000176406	13150	g.chr8:105026843A>G	intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			728			728	0.880687	KEEP	2	7	-1	44	48	2	7	-1	16.777182	44	48	0.071429	1	0	0	0	0	1	0	0	0	--	--	HNSCC(12;0.0054)	0	G			RIMS2_uc003ylp.2_Missense_Mutation_p.K1112E|RIMS2_uc003ylw.2_Missense_Mutation_p.N926D|RIMS2_uc003ylq.2_Missense_Mutation_p.K926E|RIMS2_uc003ylr.2_Missense_Mutation_p.K951E	41	GBM-06-0188-TP	p.N852D	A	GTTGGATAGAAGTAAGTTTTA	NM_014677	NP_055492	105026843	Q9UQ26	RIMS2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		17	2795	+	G	G			Missense_Mutation	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						
RIMS2	9699	broad.mit.edu	GRCh37	8	104709403	104709403	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0644-01	TCGA-06-0644-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000406091.3:c.266C>T	p.Ala89Val	p.A89V	ENST00000406091	NM_001100117.2	89	gCg/gTg	0	G:0		1			T	A/V	uc003ylp.2	protein_coding	YES	CCDS55269.1			266/4050									ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15	c.(265-267)GCG>GTG			PROSITE_profiles:PS50178,PROSITE_profiles:PS50916,hmmpanther:PTHR12157:SF15,hmmpanther:PTHR12157,Gene3D:3.30.40.10,Pfam_domain:PF02318,Superfamily_domains:SSF57903	regulating synaptic membrane exocytosis 2			G:0.0001	ENSP00000384892		24-Feb	1.65E-05					3.00E-05			rs372575949,COSM1264257,COSM1264256	24-Feb	.		ENST00000406091	Transcript			intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	ENSG00000176406	g.chr8:104709403C>T	17283			MODERATE		1.97	medium	getma.org/?cm=msa&ty=f&p=RIMS2_HUMAN&rb=26&re=185&var=A120V	getma.org/pdb.php?prot=RIMS2_HUMAN&from=26&to=185&var=A120V	getma.org/?cm=var&var=hg19,8,104709403,C,T&fts=all	A120V	--	--	1				HNSCC(12;0.0054)																															0,1,1	1		possibly_damaging(0.859)	p.A89V	NM_001100117	NP_001093587		deleterious_low_confidence(0)	0,1,1	RIMS2_HUMAN	RIMS2	HGNC	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		E9PFB6_HUMAN		2	405	+			UPI0001597063	120			FYVE-type.|RabBD.		SNV	RIMS2,missense_variant,p.Ala89Val,ENST00000406091,NM_001100117.2;RIMS2,missense_variant,p.Ala89Val,ENST00000504942,;	uc003ylp.2	c.266C>T	266/4050	1	1			c.266C>T						8	SNP	c.(265-267)GCG>GTG	9	9			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15	Broad	regulating synaptic membrane exocytosis 2			104709403		0.438	ENSG00000176406	13150	g.chr8:104709403C>T	intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			728			728	59.596656	KEEP	13	14	-1	48	38	13	14	-1	65.372092	48	38	0.254717	1	0	0	0	0	1	0	0	0	--	--	HNSCC(12;0.0054)	0	T				58	GBM-06-0644-TP	p.A89V	C	AAGGGTGATGCGCCAACCTGT	NM_001100117	NP_001093587	104709403	Q9UQ26	RIMS2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	405	+	T	T			Missense_Mutation	120			FYVE-type.|RabBD.			
RIMS2	9699	broad.mit.edu	GRCh37	8	105001597	105001597	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0744-01	TCGA-06-0744-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000406091.3:c.2992C>T	p.Arg998Ter	p.R998*	ENST00000406091	NM_001100117.2	998	Cga/Tga	0			1			T	R/*	uc003yls.2	protein_coding	YES	CCDS55269.1			2992/4050									ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15	c.(2326-2328)CGA>TGA			hmmpanther:PTHR12157:SF15,hmmpanther:PTHR12157	regulating synaptic membrane exocytosis 2				ENSP00000384892		17/24									COSM2151680,COSM2151679,COSM2151676,COSM2151678,COSM2151677	17/24	.		ENST00000406091	Transcript			intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	ENSG00000176406	g.chr8:105001597C>T	17283			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,8,105001597,C,T&fts=all	R1060*	--	--	1				HNSCC(12;0.0054)																														RIMS2_uc003ylp.2_Nonsense_Mutation_p.R998*|RIMS2_uc003ylw.2_Nonsense_Mutation_p.R790*|RIMS2_uc003ylq.2_Nonsense_Mutation_p.R790*|RIMS2_uc003ylr.2_Nonsense_Mutation_p.R837*	1,1,1,1,1	1			p.R776*	NM_014677	NP_055492			1,1,1,1,1	RIMS2_HUMAN	RIMS2	HGNC	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		E9PFB6_HUMAN		15	2567	+			UPI0001597063	1060					SNV	RIMS2,stop_gained,p.Arg790Ter,ENST00000507740,NM_014677.4;RIMS2,stop_gained,p.Arg776Ter,ENST00000436393,;RIMS2,stop_gained,p.Arg998Ter,ENST00000406091,NM_001100117.2;RIMS2,stop_gained,p.Arg790Ter,ENST00000408894,;RIMS2,stop_gained,p.Arg837Ter,ENST00000262231,NM_001282881.1;RIMS2,stop_gained,p.Arg998Ter,ENST00000504942,;	uc003yls.2	c.2326C>T	2992/4050	5	2			c.2326C>T						8	SNP	c.(2326-2328)CGA>TGA	22	22			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15	Broad	regulating synaptic membrane exocytosis 2			105001597		0.368	ENSG00000176406	13150	g.chr8:105001597C>T	intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			728			728	190.812905	KEEP	39	24	-1	47	34	39	24	-1	191.330496	47	34	0.433824	1	0	0	0	0	0	1	0	0	--	--	HNSCC(12;0.0054)	0	T			RIMS2_uc003ylp.2_Nonsense_Mutation_p.R998*|RIMS2_uc003ylw.2_Nonsense_Mutation_p.R790*|RIMS2_uc003ylq.2_Nonsense_Mutation_p.R790*|RIMS2_uc003ylr.2_Nonsense_Mutation_p.R837*	66	GBM-06-0744-TP	p.R776*	C	TACAATTAGCCGAATGGACAG	NM_014677	NP_055492	105001597	Q9UQ26	RIMS2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		15	2567	+	T	T			Nonsense_Mutation	1060						
RIMS2	9699	broad.mit.edu	GRCh37	8	105160868	105160868	+	intron_variant	Intron	SNP	G	G	C			TCGA-06-0877-01	TCGA-06-0877-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000406091.3:c.3335-96276G>C		p.*1112*	ENST00000406091	NM_001100117.2			0			1			C		uc003yls.2	protein_coding	YES	CCDS55269.1			-/4050									ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15	c.(3178-3180)ATG>ATC				regulating synaptic membrane exocytosis 2				ENSP00000384892											COSM3412651		.		ENST00000406091	Transcript			intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	ENSG00000176406	g.chr8:105160868G>C	17283			MODIFIER	19/23							--	--	1				HNSCC(12;0.0054)																														RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.M1049I|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron	1	1			p.M1060I	NM_014677	NP_055492			1	RIMS2_HUMAN	RIMS2	HGNC	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		E9PFB6_HUMAN		23	3421	+			UPI0001597063	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					SNV	RIMS2,missense_variant,p.Met1060Ile,ENST00000436393,;RIMS2,missense_variant,p.Met1049Ile,ENST00000408894,;RIMS2,intron_variant,,ENST00000507740,NM_014677.4;RIMS2,intron_variant,,ENST00000406091,NM_001100117.2;RIMS2,intron_variant,,ENST00000262231,NM_001282881.1;	uc003yls.2	c.3180G>C	-/4050	3	3			c.3180G>C						8	SNP	c.(3178-3180)ATG>ATC	15	15			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15	Broad	regulating synaptic membrane exocytosis 2			105160868		0.433	ENSG00000176406	13150	g.chr8:105160868G>C	intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			728			728	55.406556	KEEP	10	12	-1	23	16	10	12	-1	56.934879	23	16	0.327586	1	0	0	0	0	1	0	0	0	--	--	HNSCC(12;0.0054)	0	C			RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.M1049I|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron	73	GBM-06-0877-TP	p.M1060I	G	GCAGACAAATGGGCATATCAG	NM_014677	NP_055492	105160868	Q9UQ26	RIMS2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		23	3421	+	C	C			Missense_Mutation	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						
RIMS2	0	broad.mit.edu	GRCh37	8	105263256	105263256	+	synonymous_variant	Silent	SNP	G	G	A	rs143698299	by1000genomes	TCGA-12-1597-01	TCGA-12-1597-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000406091.3:c.3696G>A	p.Pro1232=	p.P1232=	ENST00000406091	NM_001100117.2	1232	ccG/ccA	0	A:0.0003	A:0	1	A:0		A	P	uc003yls.2	protein_coding	YES	CCDS55269.1			3696/4050									ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15	c.(3748-3750)CCG>CCA			PROSITE_profiles:PS50004,hmmpanther:PTHR12157:SF15,hmmpanther:PTHR12157,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562	regulating synaptic membrane exocytosis 2		A:0	A:0.0001	ENSP00000384892	A:0.001	23/24	4.14E-05	0.000102	8.73E-05			4.51E-05			rs143698299,COSM3412660,COSM3412661,COSM3412657,COSM3412659,COSM3412658	23/24	.		ENST00000406091	Transcript		A:0.0002	intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	ENSG00000176406	g.chr8:105263256G>A	17283			LOW								--	--	1				HNSCC(12;0.0054)																														RIMS2_uc003ylp.2_Silent_p.P1232P|RIMS2_uc003ylw.2_Silent_p.P1239P|RIMS2_uc003ylq.2_Silent_p.P1046P|RIMS2_uc003ylr.2_Silent_p.P1071P	0,1,1,1,1,1	1			p.P1250P	NM_014677	NP_055492	A:0		0,1,1,1,1,1	RIMS2_HUMAN	RIMS2	HGNC	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		E9PFB6_HUMAN		27	3991	+			UPI0001597063	1294			C2 2.		SNV	RIMS2,synonymous_variant,p.=,ENST00000507740,NM_014677.4;RIMS2,synonymous_variant,p.=,ENST00000436393,;RIMS2,synonymous_variant,p.=,ENST00000406091,NM_001100117.2;RIMS2,synonymous_variant,p.=,ENST00000408894,;RIMS2,synonymous_variant,p.=,ENST00000262231,NM_001282881.1;RIMS2,synonymous_variant,p.=,ENST00000523362,;RIMS2,synonymous_variant,p.=,ENST00000339750,NM_001282882.1;	uc003yls.2	c.3750G>A	3696/4050	1	1			c.3750G>A						8	SNP	c.(3748-3750)CCG>CCA	61	61			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15	Broad	regulating synaptic membrane exocytosis 2			105263256		0.408	ENSG00000176406	13150	g.chr8:105263256G>A	intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding		p.P1250P(NCIH2023-Tumor)	728		p.P1250P(NCIH2023-Tumor)	728	-1.148698	KEEP	5	2	-1	63	35	5	2	-1	15.793023	63	35	0.076087	1	0	0	0	0	0	0	1	0	--	--	HNSCC(12;0.0054)	0	A			RIMS2_uc003ylp.2_Silent_p.P1232P|RIMS2_uc003ylw.2_Silent_p.P1239P|RIMS2_uc003ylq.2_Silent_p.P1046P|RIMS2_uc003ylr.2_Silent_p.P1071P	124	GBM-12-1597-TP	p.P1250P	G	CCCAAGCACCGTATGTAAAAG	NM_014677	NP_055492	105263256	Q9UQ26	RIMS2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		27	3991	+	A	A			Silent	1294			C2 2.			
RIMS2	0	broad.mit.edu	GRCh37	8	104778688	104778688	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-19-5955-01	TCGA-19-5955-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000406091.3:c.621T>C	p.His207=	p.H207=	ENST00000406091	NM_001100117.2	207	caT/caC	0			1			C	H	uc003ylp.2	protein_coding	YES	CCDS55269.1			621/4050									ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15	c.(619-621)CAT>CAC			hmmpanther:PTHR12157:SF15,hmmpanther:PTHR12157	regulating synaptic membrane exocytosis 2				ENSP00000384892		24-Mar									COSM3412626,COSM3412625	24-Mar	.		ENST00000406091	Transcript			intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	ENSG00000176406	g.chr8:104778688T>C	17283			LOW								--	--	1				HNSCC(12;0.0054)																															1,1	1			p.H207H	NM_001100117	NP_001093587			1,1	RIMS2_HUMAN	RIMS2	HGNC	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		E9PFB6_HUMAN		3	760	+			UPI0001597063	238					SNV	RIMS2,synonymous_variant,p.=,ENST00000406091,NM_001100117.2;RIMS2,synonymous_variant,p.=,ENST00000504942,;RIMS2,non_coding_transcript_exon_variant,,ENST00000395361,;RP11-771F20.1,upstream_gene_variant,,ENST00000481577,;	uc003ylp.2	c.621T>C	621/4050	3	3			c.621T>C						8	SNP	c.(619-621)CAT>CAC	14	14			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15	Broad	regulating synaptic membrane exocytosis 2			104778688		0.443	ENSG00000176406	13150	g.chr8:104778688T>C	intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			728			728	36.51869	KEEP	6	14	-1	23	34	6	14	-1	40.583079	23	34	0.246377	1	0	0	0	0	0	0	1	0	--	--	HNSCC(12;0.0054)	0	C				175	GBM-19-5955-TP	p.H207H	T	GTCGATCTCATGGGCTCACAA	NM_001100117	NP_001093587	104778688	Q9UQ26	RIMS2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		3	760	+	C	C			Silent	238						
RIMS2	0	broad.mit.edu	GRCh37	8	105257209	105257209	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-76-4926-01	TCGA-76-4926-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000406091.3:c.3400A>T	p.Met1134Leu	p.M1134L	ENST00000406091	NM_001100117.2	1134	Atg/Ttg	0			1			T	M/L	uc003yls.2	protein_coding	YES	CCDS55269.1			3400/4050									ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15	c.(3454-3456)ATG>TTG			hmmpanther:PTHR12157:SF15,hmmpanther:PTHR12157	regulating synaptic membrane exocytosis 2				ENSP00000384892		20/24									COSM3412655,COSM3412656,COSM3412652,COSM3412654,COSM3412653	20/24	.		ENST00000406091	Transcript			intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	ENSG00000176406	g.chr8:105257209A>T	17283			MODERATE		0.235	neutral	getma.org/?cm=msa&ty=f&p=RIMS2_HUMAN&rb=1114&re=1271&var=M1196L	NA	getma.org/?cm=var&var=hg19,8,105257209,A,T&fts=all	M1196L	--	--	1				HNSCC(12;0.0054)																														RIMS2_uc003ylp.2_Missense_Mutation_p.M1134L|RIMS2_uc003ylw.2_Missense_Mutation_p.M1141L|RIMS2_uc003ylq.2_Missense_Mutation_p.M948L|RIMS2_uc003ylr.2_Missense_Mutation_p.M973L	1,1,1,1,1	1		benign(0.109)	p.M1152L	NM_014677	NP_055492		tolerated_low_confidence(0.32)	1,1,1,1,1	RIMS2_HUMAN	RIMS2	HGNC	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		E9PFB6_HUMAN		24	3695	+			UPI0001597063	1196					SNV	RIMS2,missense_variant,p.Met948Leu,ENST00000507740,NM_014677.4;RIMS2,missense_variant,p.Met1152Leu,ENST00000436393,;RIMS2,missense_variant,p.Met1134Leu,ENST00000406091,NM_001100117.2;RIMS2,missense_variant,p.Met1141Leu,ENST00000408894,;RIMS2,missense_variant,p.Met973Leu,ENST00000262231,NM_001282881.1;RIMS2,missense_variant,p.Met70Leu,ENST00000523362,;RIMS2,missense_variant,p.Met70Leu,ENST00000339750,NM_001282882.1;	uc003yls.2	c.3454A>T	3400/4050	1	1			c.3454A>T						8	SNP	c.(3454-3456)ATG>TTG	5	5			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15	Broad	regulating synaptic membrane exocytosis 2			105257209		0.473	ENSG00000176406	13150	g.chr8:105257209A>T	intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			728			728	240.04609	KEEP	42	52	-1	95	74	42	52	-1	244.10447	95	74	0.36214	1	0	0	0	0	1	0	0	0	--	--	HNSCC(12;0.0054)	0	T			RIMS2_uc003ylp.2_Missense_Mutation_p.M1134L|RIMS2_uc003ylw.2_Missense_Mutation_p.M1141L|RIMS2_uc003ylq.2_Missense_Mutation_p.M948L|RIMS2_uc003ylr.2_Missense_Mutation_p.M973L	266	GBM-76-4926-TP	p.M1152L	A	GGCCGTGGAAATGAGGAACTG	NM_014677	NP_055492	105257209	Q9UQ26	RIMS2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		24	3695	+	T	T			Missense_Mutation	1196						
RIMS2	0	broad.mit.edu	GRCh37	8	105001597	105001597	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6282-01	TCGA-76-6282-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000406091.3:c.2992C>T	p.Arg998Ter	p.R998*	ENST00000406091	NM_001100117.2	998	Cga/Tga	0			1			T	R/*	uc003yls.2	protein_coding	YES	CCDS55269.1			2992/4050									ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15	c.(2326-2328)CGA>TGA			hmmpanther:PTHR12157:SF15,hmmpanther:PTHR12157	regulating synaptic membrane exocytosis 2				ENSP00000384892		17/24									COSM2151680,COSM2151679,COSM2151676,COSM2151678,COSM2151677	17/24	.		ENST00000406091	Transcript			intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	ENSG00000176406	g.chr8:105001597C>T	17283			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,8,105001597,C,T&fts=all	R1060*	--	--	1				HNSCC(12;0.0054)																														RIMS2_uc003ylp.2_Nonsense_Mutation_p.R998*|RIMS2_uc003ylw.2_Nonsense_Mutation_p.R790*|RIMS2_uc003ylq.2_Nonsense_Mutation_p.R790*|RIMS2_uc003ylr.2_Nonsense_Mutation_p.R837*	1,1,1,1,1	1			p.R776*	NM_014677	NP_055492			1,1,1,1,1	RIMS2_HUMAN	RIMS2	HGNC	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		E9PFB6_HUMAN		15	2567	+			UPI0001597063	1060					SNV	RIMS2,stop_gained,p.Arg790Ter,ENST00000507740,NM_014677.4;RIMS2,stop_gained,p.Arg776Ter,ENST00000436393,;RIMS2,stop_gained,p.Arg998Ter,ENST00000406091,NM_001100117.2;RIMS2,stop_gained,p.Arg790Ter,ENST00000408894,;RIMS2,stop_gained,p.Arg837Ter,ENST00000262231,NM_001282881.1;RIMS2,stop_gained,p.Arg998Ter,ENST00000504942,;	uc003yls.2	c.2326C>T	2992/4050	5	2			c.2326C>T						8	SNP	c.(2326-2328)CGA>TGA	22	22			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15	Broad	regulating synaptic membrane exocytosis 2			105001597		0.368	ENSG00000176406	13150	g.chr8:105001597C>T	intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			728			728	60.547026	KEEP	13	14	-1	40	48	13	14	-1	67.829504	40	48	0.226415	1	0	0	0	0	0	1	0	0	--	--	HNSCC(12;0.0054)	0	T			RIMS2_uc003ylp.2_Nonsense_Mutation_p.R998*|RIMS2_uc003ylw.2_Nonsense_Mutation_p.R790*|RIMS2_uc003ylq.2_Nonsense_Mutation_p.R790*|RIMS2_uc003ylr.2_Nonsense_Mutation_p.R837*	278	GBM-76-6282-TP	p.R776*	C	TACAATTAGCCGAATGGACAG	NM_014677	NP_055492	105001597	Q9UQ26	RIMS2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		15	2567	+	T	T			Nonsense_Mutation	1060						
RIMS2	9699		GRCh37	8	104897848	104897848	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000406091.3:c.1021C>T	p.Arg341Cys	p.R341C	ENST00000406091	NM_001100117.2	341	Cgt/Tgt	0																																																																																																																																																																																																																																												
RIN1	9610		GRCh37	11	66102539	66102539	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000311320.4:c.731G>A	p.Ser244Asn	p.S244N	ENST00000311320	NM_004292.2	244	aGc/aAc	0																																																																																																																																																																																																																																												
RIN2	54453		GRCh37	20	19981289	19981289	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000255006.6:c.2544C>T	p.Asn848=	p.N848=	ENST00000255006	NM_018993.3	848	aaC/aaT	0																																																																																																																																																																																																																																												
RIN3	79890	broad.mit.edu	GRCh37	14	93118565	93118565	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs145578489	byFrequency	TCGA-06-0213-01	TCGA-06-0213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216487.7:c.1171G>A	p.Val391Ile	p.V391I	ENST00000216487	NM_024832.3	391	Gtt/Att	0	A:0.0027	A:0	1	A:0.0014		A	V/I	uc001yap.2	protein_coding	YES	CCDS32144.1			1171/2958									lung(2)|ovary(1)	3	c.(1171-1173)GTT>ATT			hmmpanther:PTHR23101,hmmpanther:PTHR23101:SF58	Ras and Rab interactor 3		A:0	A:0.0001	ENSP00000216487	A:0	10-Jun	0.000247	0.00242	0.000174	0.000117		4.71E-05		6.54E-05	rs145578489,COSM2150874	10-Jun	common_variant		ENST00000216487	Transcript		A:0.0002	endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	ENSG00000100599	g.chr14:93118565G>A	18751			MODERATE		-1.79	neutral	getma.org/?cm=msa&ty=f&p=RIN3_HUMAN&rb=181&re=595&var=V391I	NA	getma.org/?cm=var&var=hg19,14,93118565,G,A&fts=all	V391I	--	--	1																																		RIN3_uc010auk.2_Missense_Mutation_p.V53I|RIN3_uc001yaq.2_Missense_Mutation_p.V316I|RIN3_uc001yar.1_Missense_Mutation_p.V53I|RIN3_uc001yas.1_Missense_Mutation_p.V53I	0,1	1		benign(0.008)	p.V391I	NM_024832	NP_079108	A:0	tolerated(0.66)	0,1	RIN3_HUMAN	RIN3	HGNC	Q8TB24	RIN3_HUMAN			Q5CZ74_HUMAN		6	1323	+		all_cancers(154;0.0701)	UPI00001C1C97	391			Pro-rich.		SNV	RIN3,missense_variant,p.Val391Ile,ENST00000216487,NM_024832.3;RIN3,upstream_gene_variant,,ENST00000556418,;RIN3,non_coding_transcript_exon_variant,,ENST00000418924,;RIN3,downstream_gene_variant,,ENST00000553992,;RIN3,3_prime_UTR_variant,,ENST00000555589,;	uc001yap.2	c.1171G>A	1330/3859	2	2			c.1171G>A						14	SNP	c.(1171-1173)GTT>ATT	31	31			lung(2)|ovary(1)	3	Broad	Ras and Rab interactor 3			93118565		0.667	ENSG00000100599	13155	g.chr14:93118565G>A	endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding							60.628098	KEEP	16	15	-1	32	50	16	15	-1	65.619134	32	50	0.260417	1	0	0	0	0	1	0	0	0	--	--		0	A			RIN3_uc010auk.2_Missense_Mutation_p.V53I|RIN3_uc001yaq.2_Missense_Mutation_p.V316I|RIN3_uc001yar.1_Missense_Mutation_p.V53I|RIN3_uc001yas.1_Missense_Mutation_p.V53I	49	GBM-06-0213-TP	p.V391I	G	CAGACGCCGCGTTTCCGAGAG	NM_024832	NP_079108	93118565	Q8TB24	RIN3_HUMAN	0			6	1323	+	A	A		all_cancers(154;0.0701)	Missense_Mutation	391			Pro-rich.			
RIN3	79890	broad.mit.edu	GRCh37	14	93119291	93119291	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216487.7:c.1897C>T	p.Arg633Cys	p.R633C	ENST00000216487	NM_024832.3	633	Cgc/Tgc	0			1			T	R/C	uc001yap.2	protein_coding	YES	CCDS32144.1			1897/2958									lung(2)|ovary(1)	3	c.(1897-1899)CGC>TGC			Superfamily_domains:0044157,hmmpanther:PTHR23101,hmmpanther:PTHR23101:SF58	Ras and Rab interactor 3				ENSP00000216487		10-Jun	4.12E-05		8.72E-05	0.000117		4.56E-05			rs769093908,COSM958884,COSM3401526	10-Jun	.		ENST00000216487	Transcript			endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	ENSG00000100599	g.chr14:93119291C>T	18751			MODERATE		-0.28	neutral	getma.org/?cm=msa&ty=f&p=RIN3_HUMAN&rb=596&re=738&var=R633C	NA	getma.org/?cm=var&var=hg19,14,93119291,C,T&fts=all	R633C	--	--	1																																		RIN3_uc010auk.2_Missense_Mutation_p.R295C|RIN3_uc001yaq.2_Missense_Mutation_p.R558C|RIN3_uc001yar.1_Missense_Mutation_p.R295C|RIN3_uc001yas.1_Missense_Mutation_p.R295C	0,1,1	1		probably_damaging(0.917)	p.R633C	NM_024832	NP_079108		tolerated(0.23)	0,1,1	RIN3_HUMAN	RIN3	HGNC	Q8TB24	RIN3_HUMAN			Q5CZ74_HUMAN		6	2049	+		all_cancers(154;0.0701)	UPI00001C1C97	633			Interaction with RAB5B.		SNV	RIN3,missense_variant,p.Arg150Cys,ENST00000556418,;RIN3,missense_variant,p.Arg633Cys,ENST00000216487,NM_024832.3;RIN3,non_coding_transcript_exon_variant,,ENST00000418924,;RIN3,downstream_gene_variant,,ENST00000553992,;RIN3,3_prime_UTR_variant,,ENST00000555589,;	uc001yap.2	c.1897C>T	2056/3859	1	1			c.1897C>T						14	SNP	c.(1897-1899)CGC>TGC	8	8			lung(2)|ovary(1)	3	Broad	Ras and Rab interactor 3			93119291		0.597	ENSG00000100599	13155	g.chr14:93119291C>T	endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding							154.57779	KEEP	24	24	-1	5	6	24	24	-1	160.487838	5	6	0.836364	1	0	0	0	0	1	0	0	0	--	--		0	T			RIN3_uc010auk.2_Missense_Mutation_p.R295C|RIN3_uc001yaq.2_Missense_Mutation_p.R558C|RIN3_uc001yar.1_Missense_Mutation_p.R295C|RIN3_uc001yas.1_Missense_Mutation_p.R295C	102	GBM-06-5858-TP	p.R633C	C	GATGATGGCGCGCCAGACCTC	NM_024832	NP_079108	93119291	Q8TB24	RIN3_HUMAN	0			6	2049	+	T	T		all_cancers(154;0.0701)	Missense_Mutation	633			Interaction with RAB5B.			
RIN3	0	broad.mit.edu	GRCh37	14	93022210	93022210	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-2509-01	TCGA-28-2509-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216487.7:c.159G>A	p.Leu53=	p.L53=	ENST00000216487	NM_024832.3	53	ctG/ctA	0			1			A	L	uc001yap.2	protein_coding	YES	CCDS32144.1			159/2958									lung(2)|ovary(1)	3	c.(157-159)CTG>CTA			hmmpanther:PTHR23101,hmmpanther:PTHR23101:SF58	Ras and Rab interactor 3				ENSP00000216487		10-Feb									COSM3401524	10-Feb	.		ENST00000216487	Transcript			endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	ENSG00000100599	g.chr14:93022210G>A	18751			LOW								--	--	1																																		RIN3_uc010auk.2_5'UTR	1	1			p.L53L	NM_024832	NP_079108			1	RIN3_HUMAN	RIN3	HGNC	Q8TB24	RIN3_HUMAN			Q5CZ74_HUMAN		2	311	+		all_cancers(154;0.0701)	UPI00001C1C97	53					SNV	RIN3,synonymous_variant,p.=,ENST00000216487,NM_024832.3;RIN3,synonymous_variant,p.=,ENST00000555589,;RIN3,non_coding_transcript_exon_variant,,ENST00000556385,;	uc001yap.2	c.159G>A	318/3859	1	1			c.159G>A						14	SNP	c.(157-159)CTG>CTA	64	64			lung(2)|ovary(1)	3	Broad	Ras and Rab interactor 3			93022210		0.612	ENSG00000100599	13155	g.chr14:93022210G>A	endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding							-12.840965	KEEP	1	2	-1	44	55	1	2	-1	6.529856	44	55	0.036145	1	0	0	0	0	0	0	1	0	--	--		0	A			RIN3_uc010auk.2_5'UTR	211	GBM-28-2509-TP	p.L53L	G	TCAGCATCCTGGAGAAGCTCA	NM_024832	NP_079108	93022210	Q8TB24	RIN3_HUMAN	0			2	311	+	A	A		all_cancers(154;0.0701)	Silent	53						
RIPK1	8737	broad.mit.edu	GRCh37	6	3104537	3104537	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0749-01	TCGA-06-0749-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259808.4:c.994C>T	p.Arg332Trp	p.R332W	ENST00000259808		332	Cgg/Tgg	0	T:0		1			T	R/W	uc010jni.2	protein_coding	YES	CCDS4482.1			994/2016									large_intestine(3)|lung(1)|skin(1)	5	c.(994-996)CGG>TGG			hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF375	receptor (TNFRSF)-interacting serine-threonine			T:0.0001	ENSP00000259808		11-Aug	8.24E-06							6.07E-05	rs370418004,COSM2151911	11-Aug	.		ENST00000259808	Transcript			activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	ENSG00000137275	g.chr6:3104537C>T	10019			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=RIPK1_HUMAN&rb=301&re=349&var=R332W	NA	getma.org/?cm=var&var=hg19,6,3104537,C,T&fts=all	R332W	--	--	1																																		RIPK1_uc003muv.3_Missense_Mutation_p.R169W|RIPK1_uc003muw.3_Missense_Mutation_p.R267W|RIPK1_uc011dhs.1_Missense_Mutation_p.R286W|RIPK1_uc003mux.2_Missense_Mutation_p.R332W	0,1	1		probably_damaging(0.973)	p.R332W	NM_003804	NP_003795		tolerated(0.13)	0,1	RIPK1_HUMAN	RIPK1	HGNC	Q13546	RIPK1_HUMAN					8	1226	+	Ovarian(93;0.0386)	all_hematologic(90;0.0895)	UPI000000DC95	332			Interaction with SQSTM1.		SNV	RIPK1,missense_variant,p.Arg332Trp,ENST00000259808,;RIPK1,missense_variant,p.Arg332Trp,ENST00000380409,NM_003804.3;RIPK1,missense_variant,p.Arg286Trp,ENST00000541791,;RIPK1,non_coding_transcript_exon_variant,,ENST00000479389,;	uc010jni.2	c.994C>T	1292/4160	2	2			c.994C>T						6	SNP	c.(994-996)CGG>TGG	43	43			large_intestine(3)|lung(1)|skin(1)	5	Broad	receptor (TNFRSF)-interacting serine-threonine			3104537		0.348	ENSG00000137275	13162	g.chr6:3104537C>T	activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			138			138	69.47186	KEEP	16	8	-1	61	26	16	8	-1	72.475702	61	26	0.296296	1	0	0	0	0	1	0	0	0	--	--		0	T			RIPK1_uc003muv.3_Missense_Mutation_p.R169W|RIPK1_uc003muw.3_Missense_Mutation_p.R267W|RIPK1_uc011dhs.1_Missense_Mutation_p.R286W|RIPK1_uc003mux.2_Missense_Mutation_p.R332W	69	GBM-06-0749-TP	p.R332W	C	ACCTTCAAGCCGGTCAAATTC	NM_003804	NP_003795	3104537	Q13546	RIPK1_HUMAN	0			8	1226	+	T	T	Ovarian(93;0.0386)	all_hematologic(90;0.0895)	Missense_Mutation	332			Interaction with SQSTM1.			
RIPK3	0	broad.mit.edu	GRCh37	14	24808471	24808471	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-08-0386-01	TCGA-08-0386-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216274.5:c.221G>A	p.Arg74His	p.R74H	ENST00000216274	NM_006871.3	74	cGc/cAc	0			1			T	R/H	uc001wpb.2	protein_coding	YES	CCDS9628.1			221/1557									central_nervous_system(2)|ovary(1)|lung(1)	4	c.(220-222)CGC>CAC			Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF346,SMART_domains:SM00220,Superfamily_domains:SSF56112	receptor-interacting serine-threonine kinase 3				ENSP00000216274		10-Mar									COSM3401263	10-Mar	.		ENST00000216274	Transcript			apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity	ENSG00000129465	g.chr14:24808471C>T	10021			MODERATE		1.105	low	getma.org/?cm=msa&ty=f&p=RIPK3_HUMAN&rb=21&re=283&var=R74H	getma.org/pdb.php?prot=RIPK3_HUMAN&from=21&to=283&var=R74H	getma.org/?cm=var&var=hg19,14,24808471,C,T&fts=all	R74H	--	--	1																																		RIPK3_uc001wpa.2_5'Flank|RIPK3_uc010alq.2_RNA|RIPK3_uc010toi.1_5'UTR|RIPK3_uc010toj.1_Missense_Mutation_p.R74H	1	1		benign(0.017)	p.R74H	NM_006871	NP_006862		tolerated(0.58)	1	RIPK3_HUMAN	RIPK3	HGNC	Q9Y572	RIPK3_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)			3	431	-			UPI00000369E2	74			Protein kinase.		SNV	RIPK3,missense_variant,p.Arg74His,ENST00000216274,NM_006871.3;ADCY4,upstream_gene_variant,,ENST00000310677,NM_001198568.1,NM_139247.3,NM_001198592.1;ADCY4,upstream_gene_variant,,ENST00000554068,;ADCY4,upstream_gene_variant,,ENST00000418030,;ADCY4,upstream_gene_variant,,ENST00000396747,;RP11-934B9.3,upstream_gene_variant,,ENST00000555591,;RIPK3,upstream_gene_variant,,ENST00000554569,;ADCY4,upstream_gene_variant,,ENST00000559167,;ADCY4,upstream_gene_variant,,ENST00000561138,;RIPK3,non_coding_transcript_exon_variant,,ENST00000554338,;ADCY4,upstream_gene_variant,,ENST00000558563,;ADCY4,upstream_gene_variant,,ENST00000558125,;RIPK3,missense_variant,p.Arg74His,ENST00000554756,;RIPK3,non_coding_transcript_exon_variant,,ENST00000557624,;RIPK3,non_coding_transcript_exon_variant,,ENST00000557253,;ADCY4,upstream_gene_variant,,ENST00000557056,;ADCY4,upstream_gene_variant,,ENST00000554781,;ADCY4,upstream_gene_variant,,ENST00000557099,;RIPK3,downstream_gene_variant,,ENST00000557662,;	uc001wpb.2	c.221G>A	440/1930	1	1			c.221G>A						14	SNP	c.(220-222)CGC>CAC	7	7			central_nervous_system(2)|ovary(1)|lung(1)	4	Broad	receptor-interacting serine-threonine kinase 3			24808471		0.577	ENSG00000129465	13164	g.chr14:24808471C>T	apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity	Pancreas(58;918 1191 4668 13304 15331)		120	Pancreas(58;918 1191 4668 13304 15331)		120	6.939248	KEEP	9	4	-1	73	49	9	4	-1	24.779927	73	49	0.099099	1	0	0	0	0	1	0	0	0	--	--		0	T			RIPK3_uc001wpa.2_5'Flank|RIPK3_uc010alq.2_RNA|RIPK3_uc010toi.1_5'UTR|RIPK3_uc010toj.1_Missense_Mutation_p.R74H	116	GBM-08-0386-TP	p.R74H	C	CCCTTCTAGGCGCAGCACGAA	NM_006871	NP_006862	24808471	Q9Y572	RIPK3_HUMAN	0		GBM - Glioblastoma multiforme(265;0.0181)	3	431	-	T	T			Missense_Mutation	74			Protein kinase.			
RIPK4	54101	broad.mit.edu	GRCh37	21	43161994	43161994	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332512.3:c.1359C>T	p.Cys453=	p.C453=	ENST00000332512	NM_020639.2	453	tgC/tgT	0			1			A	C	uc002yzn.1	protein_coding					1503/2499								p.C453C(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7	c.(1357-1359)TGC>TGT			PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24198,hmmpanther:PTHR24198:SF18,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	ankyrin repeat domain 3				ENSP00000330161		9-Sep	1.65E-05	9.66E-05				1.51E-05			rs766878820,COSM42863,COSM1559590	9-Sep	.		ENST00000352483	Transcript	1			cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	ENSG00000183421	g.chr21:43161994G>A	496			LOW								--	--	1																																			0,1,1				p.C453C	NM_020639	NP_065690			0,1,1	RIPK4_HUMAN	RIPK4	HGNC	P57078	RIPK4_HUMAN					8	1407	-			UPI0000125B50	453					SNV	RIPK4,synonymous_variant,p.=,ENST00000352483,;RIPK4,synonymous_variant,p.=,ENST00000332512,NM_020639.2;RIPK4,synonymous_variant,p.=,ENST00000544709,;RIPK4,synonymous_variant,p.=,ENST00000542057,;AP001615.9,downstream_gene_variant,,ENST00000423276,;	uc002yzn.1	c.1359C>T	1568/4017	1	1			c.1359C>T						21	SNP	c.(1357-1359)TGC>TGT	55	55		p.C453C(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7	Broad	ankyrin repeat domain 3			43161994		0.657	ENSG00000183421	13165	g.chr21:43161994G>A		cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			268			268	137.419532	KEEP	40	42	-1	73	68	40	42	-1	140.091499	73	68	0.352518	1	0	0	0	0	0	0	1	0	--	--		0	A				26	GBM-06-0154-TP	p.C453C	G	GCCACTTGGCGCACTCCTCTT	NM_020639	NP_065690	43161994	P57078	RIPK4_HUMAN	0			8	1407	-	A	A			Silent	453						
RIPK4	0	broad.mit.edu	GRCh37	21	43161460	43161460	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000352483.2:c.2037C>T	p.Asn679=	p.N679=	ENST00000352483		679	aaC/aaT	0			1			A	N	uc002yzn.1	protein_coding					2037/2499									ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7	c.(1891-1893)AAC>AAT			PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24198,hmmpanther:PTHR24198:SF18,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	ankyrin repeat domain 3				ENSP00000330161		9-Sep	2.48E-05	0.000103				1.56E-05		6.14E-05	rs781171886,COSM2154805,COSM2154806	9-Sep	.		ENST00000352483	Transcript	1			cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	ENSG00000183421	g.chr21:43161460G>A	496			LOW								--	--	1																																			0,1,1				p.N631N	NM_020639	NP_065690			0,1,1	RIPK4_HUMAN	RIPK4	HGNC	P57078	RIPK4_HUMAN					8	1941	-			UPI0000125B50	631					SNV	RIPK4,synonymous_variant,p.=,ENST00000352483,;RIPK4,synonymous_variant,p.=,ENST00000332512,NM_020639.2;RIPK4,synonymous_variant,p.=,ENST00000544709,;RIPK4,synonymous_variant,p.=,ENST00000542057,;AP001615.9,non_coding_transcript_exon_variant,,ENST00000423276,;	uc002yzn.1	c.1893C>T	2102/4017	2	2			c.1893C>T						21	SNP	c.(1891-1893)AAC>AAT	30	30			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7	Broad	ankyrin repeat domain 3			43161460		0.697	ENSG00000183421	13165	g.chr21:43161460G>A		cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			268			268	117.549279	KEEP	29	19	-1	48	42	29	19	-1	119.113348	48	42	0.372727	1	0	0	0	0	0	0	1	0	--	--		0	A				139	GBM-14-0817-TP	p.N631N	G	GGCTGCAGACGTTGACGTCGG	NM_020639	NP_065690	43161460	P57078	RIPK4_HUMAN	0			8	1941	-	A	A			Silent	631						
RIPK4	0	broad.mit.edu	GRCh37	21	43161460	43161460	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5219-01	TCGA-28-5219-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000352483.2:c.2037C>T	p.Asn679=	p.N679=	ENST00000352483		679	aaC/aaT	0			1			A	N	uc002yzn.1	protein_coding					2037/2499									ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7	c.(1891-1893)AAC>AAT			PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24198,hmmpanther:PTHR24198:SF18,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403	ankyrin repeat domain 3				ENSP00000330161		9-Sep	2.48E-05	0.000103				1.56E-05		6.14E-05	rs781171886,COSM2154805,COSM2154806	9-Sep	.		ENST00000352483	Transcript	1			cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	ENSG00000183421	g.chr21:43161460G>A	496			LOW								--	--	1																																			0,1,1				p.N631N	NM_020639	NP_065690			0,1,1	RIPK4_HUMAN	RIPK4	HGNC	P57078	RIPK4_HUMAN					8	1941	-			UPI0000125B50	631					SNV	RIPK4,synonymous_variant,p.=,ENST00000352483,;RIPK4,synonymous_variant,p.=,ENST00000332512,NM_020639.2;RIPK4,synonymous_variant,p.=,ENST00000544709,;RIPK4,synonymous_variant,p.=,ENST00000542057,;AP001615.9,non_coding_transcript_exon_variant,,ENST00000423276,;	uc002yzn.1	c.1893C>T	2102/4017	2	2			c.1893C>T						21	SNP	c.(1891-1893)AAC>AAT	30	30			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7	Broad	ankyrin repeat domain 3			43161460		0.697	ENSG00000183421	13165	g.chr21:43161460G>A		cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			268			268	302.699696	KEEP	49	60	-1	18	30	49	60	-1	308.737355	18	30	0.723881	1	0	0	0	0	0	0	1	0	--	--		0	A				225	GBM-28-5219-TP	p.N631N	G	GGCTGCAGACGTTGACGTCGG	NM_020639	NP_065690	43161460	P57078	RIPK4_HUMAN	0			8	1941	-	A	A			Silent	631						
RIPK4	54101		GRCh37	21	43162031	43162031	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000332512.3:c.1322T>A	p.Leu441Gln	p.L441Q	ENST00000332512	NM_020639.2	441	cTg/cAg	0																																																																																																																																																																																																																																												
RIPPLY3	53820	broad.mit.edu	GRCh37	21	38380466	38380466	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0237-01	TCGA-06-0237-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329553.2:c.114G>A	p.Pro38=	p.P38=	ENST00000329553	NM_018962.2	38	ccG/ccA	0			1			A	P	uc002yvv.2	protein_coding	YES	CCDS13648.1			114/573									breast(1)	1	c.(112-114)CCG>CCA			Pfam_domain:PF14998,hmmpanther:PTHR16770,hmmpanther:PTHR16770:SF4,Low_complexity_(Seg):seg	Down syndrome critical region protein 6				ENSP00000331734		4-Feb	7.41E-05		0.000173					0.000424	rs781340522,COSM1250730	4-Feb	common_variant		ENST00000329553	Transcript				nucleus		ENSG00000183145	g.chr21:38380466G>A	3047			LOW								--	--	1																																		DSCR6_uc011aec.1_Translation_Start_Site|DSCR6_uc010gnd.2_Translation_Start_Site	0,1	1			p.P38P	NM_018962	NP_061835			0,1	DSCR6_HUMAN	RIPPLY3	HGNC	P57055	DSCR6_HUMAN					2	324	+		Myeloproliferative disorder(46;0.0632)	UPI000012990F	38					SNV	RIPPLY3,synonymous_variant,p.=,ENST00000329553,NM_018962.2;RIPPLY3,non_coding_transcript_exon_variant,,ENST00000485272,;RIPPLY3,non_coding_transcript_exon_variant,,ENST00000490393,;	uc002yvv.2	c.114G>A	324/2235	2	2			c.114G>A						21	SNP	c.(112-114)CCG>CCA	46	46			breast(1)	1	Broad	Down syndrome critical region protein 6			38380466		0.577	ENSG00000183145	4689	g.chr21:38380466G>A		nucleus		Colon(134;194 1731 2725 51652 51982)			Colon(134;194 1731 2725 51652 51982)			158.820447	KEEP	31	30	-1	31	33	31	30	-1	158.853195	31	33	0.481132	1	0	0	0	0	0	0	1	0	--	--		0	A			DSCR6_uc011aec.1_Translation_Start_Site|DSCR6_uc010gnd.2_Translation_Start_Site	54	GBM-06-0237-TP	p.P38P	G	GCCCCGCGCCGTGGCGACCTT	NM_018962	NP_061835	38380466	P57055	DSCR6_HUMAN	0			2	324	+	A	A		Myeloproliferative disorder(46;0.0632)	Silent	38						
RIT2	6014		GRCh37	18	40554049	40554049	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000326695.5:c.224C>A	p.Thr75Asn	p.T75N	ENST00000326695	NM_002930.3	75	aCt/aAt	0																																																																																																																																																																																																																																												
RLBP1	6017		GRCh37	15	89758334	89758334	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000268125.5:c.482T>C	p.Phe161Ser	p.F161S	ENST00000268125	NM_000326.4	161	tTc/tCc	0																																																																																																																																																																																																																																												
RLIM	0	broad.mit.edu	GRCh37	X	73811411	73811411	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0787-01	TCGA-14-0787-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332687.6:c.1739G>A	p.Gly580Asp	p.G580D	ENST00000332687	NM_016120.3	580	gGc/gAc	0			1			T	G/D	uc004ebu.2	protein_coding	YES	CCDS14427.1			1739/1875									ovary(2)	2	c.(1738-1740)GGC>GAC			PROSITE_profiles:PS50089,hmmpanther:PTHR14155:SF3,hmmpanther:PTHR14155,Gene3D:3.30.40.10,Pfam_domain:PF13639,SMART_domains:SM00184,Superfamily_domains:SSF57850	ring finger protein, LIM domain interacting				ENSP00000328059		4-Apr									COSM3406591	4-Apr	.		ENST00000332687	Transcript			random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000131263	g.chrX:73811411C>T	13429			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=RNF12_HUMAN&rb=568&re=613&var=G580D	getma.org/pdb.php?prot=RNF12_HUMAN&from=568&to=613&var=G580D	getma.org/?cm=var&var=hg19,X,73811411,C,T&fts=all	G580D	--	--	1																																		RLIM_uc004ebw.2_Missense_Mutation_p.G580D	1	1		probably_damaging(0.99)	p.G580D	NM_183353	NP_899196		deleterious(0.04)	1	RNF12_HUMAN	RLIM	HGNC	Q9NVW2	RNF12_HUMAN					5	2029	-			UPI000006FD6A	580			RING-type.		SNV	RLIM,missense_variant,p.Gly580Asp,ENST00000332687,NM_016120.3;RLIM,missense_variant,p.Gly580Asp,ENST00000349225,NM_183353.2;	uc004ebu.2	c.1739G>A	1958/8317	2	2			c.1739G>A						23	SNP	c.(1738-1740)GGC>GAC	24	24			ovary(2)	2	Broad	ring finger protein, LIM domain interacting			73811411		0.408	ENSG00000131263	13172	g.chrX:73811411C>T	random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	Esophageal Squamous(169;1899 1923 14997 18818 32118)			Esophageal Squamous(169;1899 1923 14997 18818 32118)			230.847039	KEEP	35	44	-1	10	8	35	44	-1	238.367541	10	8	0.809524	1	0	0	0	0	1	0	0	0	--	--		0	T			RLIM_uc004ebw.2_Missense_Mutation_p.G580D	135	GBM-14-0787-TP	p.G580D	C	AAGTTTGTTGCCTTCTGTATA	NM_183353	NP_899196	73811411	Q9NVW2	RNF12_HUMAN	0			5	2029	-	T	T			Missense_Mutation	580			RING-type.			
RLIM	0	broad.mit.edu	GRCh37	X	73811531	73811531	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01	TCGA-19-1790-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332687.6:c.1619A>G	p.Asp540Gly	p.D540G	ENST00000332687	NM_016120.3	540	gAt/gGt	0			1			C	D/G	uc004ebu.2	protein_coding	YES	CCDS14427.1			1619/1875									ovary(2)	2	c.(1618-1620)GAT>GGT			hmmpanther:PTHR14155:SF3,hmmpanther:PTHR14155	ring finger protein, LIM domain interacting				ENSP00000328059		4-Apr									rs746269437,COSM3406592	4-Apr	.		ENST00000332687	Transcript			random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000131263	g.chrX:73811531T>C	13429			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=RNF12_HUMAN&rb=534&re=567&var=D540G	NA	getma.org/?cm=var&var=hg19,X,73811531,T,C&fts=all	D540G	--	--	1																																		RLIM_uc004ebw.2_Missense_Mutation_p.D540G	0,1	1		benign(0.168)	p.D540G	NM_183353	NP_899196		deleterious(0.04)	0,1	RNF12_HUMAN	RLIM	HGNC	Q9NVW2	RNF12_HUMAN					5	1909	-			UPI000006FD6A	540					SNV	RLIM,missense_variant,p.Asp540Gly,ENST00000332687,NM_016120.3;RLIM,missense_variant,p.Asp540Gly,ENST00000349225,NM_183353.2;	uc004ebu.2	c.1619A>G	1838/8317	4	4			c.1619A>G						23	SNP	c.(1618-1620)GAT>GGT	35	35			ovary(2)	2	Broad	ring finger protein, LIM domain interacting			73811531		0.458	ENSG00000131263	13172	g.chrX:73811531T>C	random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	Esophageal Squamous(169;1899 1923 14997 18818 32118)			Esophageal Squamous(169;1899 1923 14997 18818 32118)			-0.87906	KEEP	3	0	-1	19	18	3	0	-1	6.32546	19	18	0.057143	1	0	0	0	0	1	0	0	0	--	--		0	C			RLIM_uc004ebw.2_Missense_Mutation_p.D540G	160	GBM-19-1790-TP	p.D540G	T	GTCATCATCATCCTCATTTAA	NM_183353	NP_899196	73811531	Q9NVW2	RNF12_HUMAN	0			5	1909	-	C	C			Missense_Mutation	540						
RLN2	0	broad.mit.edu	GRCh37	9	5304560	5304561	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-28-2499-01	TCGA-28-2499-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381627.3:c.20dupT	p.His8ProfsTer26	p.H8Pfs*26	ENST00000381627	NM_134441.2	7	ttc/ttTc	0	A:0.0012		1			A	F/FX	uc003zja.1	protein_coding	YES	CCDS6460.1			20-21/558										0	c.(19-21)TTCfs			Cleavage_site_(Signalp):SignalP-noTM,Prints_domain:PR02004,hmmpanther:PTHR12004,hmmpanther:PTHR12004:SF5	relaxin 2 isoform 1 preproprotein			A:0.0024	ENSP00000371040		2-Jan									rs772652135	2-Jan	.		ENST00000381627	Transcript			female pregnancy	extracellular region	hormone activity	ENSG00000107014	g.chr9:5304560_5304561insA	10027			HIGH								--	--	1																																		RLN2_uc003ziz.1_Frame_Shift_Ins_p.F7fs		1			p.F7fs	NM_134441	NP_604390				REL2_HUMAN	RLN2	HGNC	P04090	REL2_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)			1	20_21	-	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	UPI000002C1A0	7					insertion	RLN2,frameshift_variant,p.His8ProfsTer26,ENST00000381627,NM_134441.2;RLN2,frameshift_variant,p.His8ProfsTer26,ENST00000308420,NM_005059.3;RLN2,upstream_gene_variant,,ENST00000416837,;	uc003zja.1	c.20_21insT	409-410/1177	5	5			c.20_21insT						9	INS	c.(19-21)TTCfs	56	56				0	Broad	relaxin 2 isoform 1 preproprotein			5304561		0.535	ENSG00000107014	13174	g.chr9:5304560_5304561insA	female pregnancy	extracellular region	hormone activity																				0.04	1	0	0	1	1	0	0	0	0	--	--		0	A			RLN2_uc003ziz.1_Frame_Shift_Ins_p.F7fs	208	GBM-28-2499-TP	p.F7fs	-	CTAGCAGGTGGAAAAAAAACAG	NM_134441	NP_604390	5304560	P04090	REL2_HUMAN	0		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)	1	20_21	-	A	A	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	Frame_Shift_Ins	7						
RLTPR	0	broad.mit.edu	GRCh37	16	67683162	67683162	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0154-01	TCGA-06-0154-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334583.6:c.1696del	p.Leu566TrpfsTer29	p.L566Wfs*29	ENST00000334583	NM_001013838.1	565	aCc/ac	0			1			-	T/X	uc002etn.2	protein_coding	YES	CCDS45513.1			1694/4308									breast(1)	1	c.(1693-1695)ACCfs			Gene3D:3.80.10.10,hmmpanther:PTHR24112,hmmpanther:PTHR24112:SF41,Superfamily_domains:SSF52047	RGD motif, leucine rich repeats, tropomodulin				ENSP00000334958		19/38									COSM2149921,COSM2149920	19/38	.		ENST00000334583	Transcript						ENSG00000159753	g.chr16:67683162delC	27089	2		HIGH								--	--	1																																		RLTPR_uc010cel.1_Frame_Shift_Del_p.T558fs|RLTPR_uc010vjr.1_Frame_Shift_Del_p.T529fs	1,1	1			p.T565fs	NM_001013838	NP_001013860			1,1	LR16C_HUMAN	RLTPR	HGNC	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)			19	1814	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	UPI00005194F2	565			LRR 12.		deletion	RLTPR,frameshift_variant,p.Leu566TrpfsTer29,ENST00000334583,NM_001013838.1;RLTPR,frameshift_variant,p.Leu530TrpfsTer29,ENST00000545661,;RLTPR,non_coding_transcript_exon_variant,,ENST00000602321,;RLTPR,non_coding_transcript_exon_variant,,ENST00000602562,;RLTPR,downstream_gene_variant,,ENST00000602563,;RLTPR,upstream_gene_variant,,ENST00000602633,;RLTPR,downstream_gene_variant,,ENST00000602742,;RLTPR,upstream_gene_variant,,ENST00000602931,;RLTPR,upstream_gene_variant,,ENST00000602924,;RLTPR,downstream_gene_variant,,ENST00000602467,;	uc002etn.2	c.1694delC	2022/4687	5	5			c.1694delC						16	DEL	c.(1693-1695)ACCfs	49	49			breast(1)	1	Broad	RGD motif, leucine rich repeats, tropomodulin			67683162		0.637	ENSG00000159753	13176	g.chr16:67683162delC																							0.28	1	1	0	1	0	0	0	0	0	--	--		0	-			RLTPR_uc010cel.1_Frame_Shift_Del_p.T558fs|RLTPR_uc010vjr.1_Frame_Shift_Del_p.T529fs	26	GBM-06-0154-TP	p.T565fs	C	CACAGGGAGACCCTGGACGAC	NM_001013838	NP_001013860	67683162	Q6F5E8	LR16C_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	19	1814	+	-	-		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	Frame_Shift_Del	565			LRR 12.			
RLTPR	0	broad.mit.edu	GRCh37	16	67683416	67683417	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0750-01	TCGA-06-0750-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334583.6:c.1814dup	p.Ala606SerfsTer5	p.A606Sfs*5	ENST00000334583	NM_001013838.1	605	cta/cTta	0			1			T	L/LX	uc002etn.2	protein_coding	YES	CCDS45513.1			1813-1814/4308									breast(1)	1	c.(1813-1815)CTAfs			Gene3D:3.80.10.10,hmmpanther:PTHR24112,hmmpanther:PTHR24112:SF41,Superfamily_domains:SSF52047	RGD motif, leucine rich repeats, tropomodulin				ENSP00000334958		20/38										20/38	.		ENST00000334583	Transcript						ENSG00000159753	g.chr16:67683416_67683417insT	27089	1		HIGH								--	--	1																																		RLTPR_uc010cel.1_Frame_Shift_Ins_p.L598fs|RLTPR_uc010vjr.1_Frame_Shift_Ins_p.L569fs		1			p.L605fs	NM_001013838	NP_001013860				LR16C_HUMAN	RLTPR	HGNC	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)			20	1933_1934	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	UPI00005194F2	605			Tropomodulin-like.		insertion	RLTPR,frameshift_variant,p.Ala606SerfsTer5,ENST00000334583,NM_001013838.1;RLTPR,frameshift_variant,p.Ala570SerfsTer5,ENST00000545661,;RLTPR,non_coding_transcript_exon_variant,,ENST00000602321,;RLTPR,non_coding_transcript_exon_variant,,ENST00000602562,;RLTPR,downstream_gene_variant,,ENST00000602563,;RLTPR,upstream_gene_variant,,ENST00000602633,;RLTPR,downstream_gene_variant,,ENST00000602742,;RLTPR,upstream_gene_variant,,ENST00000602931,;RLTPR,upstream_gene_variant,,ENST00000602924,;RLTPR,downstream_gene_variant,,ENST00000602467,;	uc002etn.2	c.1813_1814insT	2141-2142/4687	5	5			c.1813_1814insT						16	INS	c.(1813-1815)CTAfs	60	60			breast(1)	1	Broad	RGD motif, leucine rich repeats, tropomodulin			67683417		0.629	ENSG00000159753	13176	g.chr16:67683416_67683417insT																							0.07	1	0	0	1	1	0	0	0	0	--	--		0	T			RLTPR_uc010cel.1_Frame_Shift_Ins_p.L598fs|RLTPR_uc010vjr.1_Frame_Shift_Ins_p.L569fs	70	GBM-06-0750-TP	p.L605fs	-	ACTCCGGGCCCTAGCCACCAAT	NM_001013838	NP_001013860	67683416	Q6F5E8	LR16C_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	20	1933_1934	+	T	T		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	Frame_Shift_Ins	605			Tropomodulin-like.			
RLTPR	0	broad.mit.edu	GRCh37	16	67683169	67683169	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0882-01	TCGA-06-0882-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334583.6:c.1701C>T	p.Asp567=	p.D567=	ENST00000334583	NM_001013838.1	567	gaC/gaT	0			1			T	D	uc002etn.2	protein_coding	YES	CCDS45513.1			1701/4308									breast(1)	1	c.(1699-1701)GAC>GAT			Gene3D:3.80.10.10,hmmpanther:PTHR24112,hmmpanther:PTHR24112:SF41,Superfamily_domains:SSF52047	RGD motif, leucine rich repeats, tropomodulin				ENSP00000334958		19/38									COSM2152346,COSM2152345	19/38	.		ENST00000334583	Transcript						ENSG00000159753	g.chr16:67683169C>T	27089			LOW								--	--	1																																		RLTPR_uc010cel.1_Silent_p.D560D|RLTPR_uc010vjr.1_Silent_p.D531D	1,1	1			p.D567D	NM_001013838	NP_001013860			1,1	LR16C_HUMAN	RLTPR	HGNC	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)			19	1821	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	UPI00005194F2	567			LRR 12.		SNV	RLTPR,synonymous_variant,p.=,ENST00000334583,NM_001013838.1;RLTPR,synonymous_variant,p.=,ENST00000545661,;RLTPR,non_coding_transcript_exon_variant,,ENST00000602321,;RLTPR,non_coding_transcript_exon_variant,,ENST00000602562,;RLTPR,downstream_gene_variant,,ENST00000602563,;RLTPR,upstream_gene_variant,,ENST00000602633,;RLTPR,downstream_gene_variant,,ENST00000602742,;RLTPR,upstream_gene_variant,,ENST00000602931,;RLTPR,upstream_gene_variant,,ENST00000602924,;RLTPR,downstream_gene_variant,,ENST00000602467,;	uc002etn.2	c.1701C>T	2029/4687	2	2			c.1701C>T						16	SNP	c.(1699-1701)GAC>GAT	30	30			breast(1)	1	Broad	RGD motif, leucine rich repeats, tropomodulin			67683169		0.637	ENSG00000159753	13176	g.chr16:67683169C>T										28.12393	KEEP	8	4	-1	15	17	8	4	-1	29.191873	15	17	0.314286	1	0	0	0	0	0	0	1	0	--	--		0	T			RLTPR_uc010cel.1_Silent_p.D560D|RLTPR_uc010vjr.1_Silent_p.D531D	77	GBM-06-0882-TP	p.D567D	C	AGACCCTGGACGACGTCCTGC	NM_001013838	NP_001013860	67683169	Q6F5E8	LR16C_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	19	1821	+	T	T		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	Silent	567			LRR 12.			
RLTPR	0	broad.mit.edu	GRCh37	16	67683828	67683828	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01	TCGA-27-1835-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334583.6:c.2039C>T	p.Ala680Val	p.A680V	ENST00000334583	NM_001013838.1	680	gCg/gTg	0			1			T	A/V	uc002etn.2	protein_coding	YES	CCDS45513.1			2039/4308									breast(1)	1	c.(2038-2040)GCG>GTG			Gene3D:3.80.10.10,hmmpanther:PTHR24112,hmmpanther:PTHR24112:SF41	RGD motif, leucine rich repeats, tropomodulin				ENSP00000334958		21/38									COSM3402430,COSM3402429	21/38	.		ENST00000334583	Transcript						ENSG00000159753	g.chr16:67683828C>T	27089			MODERATE		2.31	medium	getma.org/?cm=msa&ty=f&p=LR16C_HUMAN&rb=632&re=831&var=A680V	NA	getma.org/?cm=var&var=hg19,16,67683828,C,T&fts=all	A680V	--	--	1																																		RLTPR_uc010cel.1_Missense_Mutation_p.A673V|RLTPR_uc010vjr.1_Missense_Mutation_p.A644V	1,1	1		possibly_damaging(0.688)	p.A680V	NM_001013838	NP_001013860		deleterious(0)	1,1	LR16C_HUMAN	RLTPR	HGNC	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)			21	2159	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	UPI00005194F2	680			LRR 16.		SNV	RLTPR,missense_variant,p.Ala680Val,ENST00000334583,NM_001013838.1;RLTPR,missense_variant,p.Ala644Val,ENST00000545661,;RLTPR,non_coding_transcript_exon_variant,,ENST00000602321,;RLTPR,non_coding_transcript_exon_variant,,ENST00000602562,;RLTPR,non_coding_transcript_exon_variant,,ENST00000602633,;RLTPR,downstream_gene_variant,,ENST00000602563,;RLTPR,upstream_gene_variant,,ENST00000602368,;RLTPR,downstream_gene_variant,,ENST00000602742,;RLTPR,upstream_gene_variant,,ENST00000602931,;RLTPR,upstream_gene_variant,,ENST00000602924,;RLTPR,downstream_gene_variant,,ENST00000602467,;	uc002etn.2	c.2039C>T	2367/4687	2	2			c.2039C>T						16	SNP	c.(2038-2040)GCG>GTG	45	45			breast(1)	1	Broad	RGD motif, leucine rich repeats, tropomodulin			67683828		0.647	ENSG00000159753	13176	g.chr16:67683828C>T										32.788668	KEEP	10	15	-1	13	11	10	15	-1	32.978073	13	11	0.413793	1	0	0	0	0	1	0	0	0	--	--		0	T			RLTPR_uc010cel.1_Missense_Mutation_p.A673V|RLTPR_uc010vjr.1_Missense_Mutation_p.A644V	194	GBM-27-1835-TP	p.A680V	C	GTGGCCCAGGCGCAGCGCAGC	NM_001013838	NP_001013860	67683828	Q6F5E8	LR16C_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	21	2159	+	T	T		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	Missense_Mutation	680			LRR 16.			
RLTPR	0	broad.mit.edu	GRCh37	16	67683468	67683468	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01	TCGA-28-2509-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334583.6:c.1865G>A	p.Gly622Glu	p.G622E	ENST00000334583	NM_001013838.1	622	gGg/gAg	0			1			A	G/E	uc002etn.2	protein_coding	YES	CCDS45513.1			1865/4308									breast(1)	1	c.(1864-1866)GGG>GAG			Gene3D:3.80.10.10,Pfam_domain:PF13516,hmmpanther:PTHR24112,hmmpanther:PTHR24112:SF41,SMART_domains:SM00368,Superfamily_domains:SSF52047	RGD motif, leucine rich repeats, tropomodulin				ENSP00000334958		20/38									COSM3402428,COSM3402427	20/38	.		ENST00000334583	Transcript						ENSG00000159753	g.chr16:67683468G>A	27089			MODERATE		2.52	medium	getma.org/?cm=msa&ty=f&p=LR16C_HUMAN&rb=588&re=651&var=G622E	NA	getma.org/?cm=var&var=hg19,16,67683468,G,A&fts=all	G622E	--	--	1																																		RLTPR_uc010cel.1_Missense_Mutation_p.G615E|RLTPR_uc010vjr.1_Missense_Mutation_p.G586E	1,1	1		probably_damaging(0.999)	p.G622E	NM_001013838	NP_001013860		tolerated(0.11)	1,1	LR16C_HUMAN	RLTPR	HGNC	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)			20	1985	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	UPI00005194F2	622			Tropomodulin-like.|LRR 14.		SNV	RLTPR,missense_variant,p.Gly622Glu,ENST00000334583,NM_001013838.1;RLTPR,missense_variant,p.Gly586Glu,ENST00000545661,;RLTPR,non_coding_transcript_exon_variant,,ENST00000602321,;RLTPR,non_coding_transcript_exon_variant,,ENST00000602562,;RLTPR,downstream_gene_variant,,ENST00000602563,;RLTPR,upstream_gene_variant,,ENST00000602368,;RLTPR,upstream_gene_variant,,ENST00000602633,;RLTPR,downstream_gene_variant,,ENST00000602742,;RLTPR,upstream_gene_variant,,ENST00000602931,;RLTPR,upstream_gene_variant,,ENST00000602924,;RLTPR,downstream_gene_variant,,ENST00000602467,;	uc002etn.2	c.1865G>A	2193/4687	2	2			c.1865G>A						16	SNP	c.(1864-1866)GGG>GAG	22	22			breast(1)	1	Broad	RGD motif, leucine rich repeats, tropomodulin			67683468		0.701	ENSG00000159753	13176	g.chr16:67683468G>A										34.749845	KEEP	9	6	-1	18	24	9	6	-1	37.359314	18	24	0.26	1	0	0	0	0	1	0	0	0	--	--		0	A			RLTPR_uc010cel.1_Missense_Mutation_p.G615E|RLTPR_uc010vjr.1_Missense_Mutation_p.G586E	211	GBM-28-2509-TP	p.G622E	G	AACGCCATGGGGGACGCGGGC	NM_001013838	NP_001013860	67683468	Q6F5E8	LR16C_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	20	1985	+	A	A		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	Missense_Mutation	622			Tropomodulin-like.|LRR 14.			
RLTPR	0	broad.mit.edu	GRCh37	16	67681849	67681849	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-5651-01	TCGA-41-5651-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334583.6:c.1059C>T	p.Ser353=	p.S353=	ENST00000334583	NM_001013838.1	353	tcC/tcT	0			1			T	S	uc002etn.2	protein_coding	YES	CCDS45513.1			1059/4308									breast(1)	1	c.(1057-1059)TCC>TCT			Gene3D:3.80.10.10,hmmpanther:PTHR24112,hmmpanther:PTHR24112:SF41,Superfamily_domains:SSF52047	RGD motif, leucine rich repeats, tropomodulin				ENSP00000334958		13/38	2.48E-05					4.86E-05			rs772396799,COSM3402426,COSM3402425	13/38	.		ENST00000334583	Transcript						ENSG00000159753	g.chr16:67681849C>T	27089			LOW								--	--	1																																		RLTPR_uc010cel.1_Silent_p.S353S|RLTPR_uc010vjr.1_Silent_p.S353S	0,1,1	1			p.S353S	NM_001013838	NP_001013860			0,1,1	LR16C_HUMAN	RLTPR	HGNC	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)			13	1179	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	UPI00005194F2	353			LRR 6.		SNV	RLTPR,synonymous_variant,p.=,ENST00000334583,NM_001013838.1;RLTPR,synonymous_variant,p.=,ENST00000545661,;RLTPR,non_coding_transcript_exon_variant,,ENST00000602321,;RLTPR,non_coding_transcript_exon_variant,,ENST00000602742,;RLTPR,downstream_gene_variant,,ENST00000602563,;RLTPR,upstream_gene_variant,,ENST00000602562,;RLTPR,upstream_gene_variant,,ENST00000602633,;RLTPR,upstream_gene_variant,,ENST00000602931,;RLTPR,downstream_gene_variant,,ENST00000602467,;	uc002etn.2	c.1059C>T	1387/4687	2	2			c.1059C>T						16	SNP	c.(1057-1059)TCC>TCT	48	48			breast(1)	1	Broad	RGD motif, leucine rich repeats, tropomodulin			67681849		0.662	ENSG00000159753	13176	g.chr16:67681849C>T										46.654348	KEEP	6	10	-1	7	7	6	10	-1	46.733097	7	7	0.56	1	0	0	0	0	0	0	1	0	--	--		0	T			RLTPR_uc010cel.1_Silent_p.S353S|RLTPR_uc010vjr.1_Silent_p.S353S	258	GBM-41-5651-TP	p.S353S	C	TGGGGGCCTCCGAGGACAGTG	NM_001013838	NP_001013860	67681849	Q6F5E8	LR16C_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	13	1179	+	T	T		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	Silent	353			LRR 6.			
RMDN2	0	broad.mit.edu	GRCh37	2	38202445	38202445	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-27-1835-01	TCGA-27-1835-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354545.2:c.718T>C	p.Tyr240His	p.Y240H	ENST00000354545	NM_001170791.1	240	Tat/Cat	0			1			C	Y/H	uc002rql.2	protein_coding		CCDS54351.1			718/1233									ovary(1)	1	c.(718-720)TAT>CAT			hmmpanther:PTHR16056,hmmpanther:PTHR16056:SF7	family with sequence similarity 82, member A1				ENSP00000346549		11-Apr									COSM2157273,COSM2157274	11-Apr	.		ENST00000354545	Transcript				cytoplasm|integral to membrane|microtubule|spindle pole	binding	ENSG00000115841	g.chr2:38202445T>C	26567			MODERATE		1.95	medium	getma.org/?cm=msa&ty=f&p=RMD2_HUMAN&rb=160&re=359&var=Y240H	NA	getma.org/?cm=var&var=hg19,2,38202445,T,C&fts=all	Y240H	--	--	1																																		FAM82A1_uc002rqn.1_Missense_Mutation_p.Y418H|FAM82A1_uc002rqk.1_Missense_Mutation_p.Y95H|FAM82A1_uc002rqm.2_Missense_Mutation_p.Y95H	1,1			benign(0.382)	p.Y240H	NM_144713	NP_653314		tolerated(0.05)	1,1	RMD2_HUMAN	RMDN2	HGNC	Q96LZ7	RMD2_HUMAN			C9JUD5_HUMAN		4	841	+			UPI00001D696E	240					SNV	RMDN2,missense_variant,p.Tyr418His,ENST00000407257,;RMDN2,missense_variant,p.Tyr418His,ENST00000234195,NM_144713.3;RMDN2,missense_variant,p.Tyr240His,ENST00000406384,NM_001170792.1;RMDN2,missense_variant,p.Tyr95His,ENST00000417700,NM_001170793.1;RMDN2,missense_variant,p.Tyr240His,ENST00000354545,NM_001170791.1;RMDN2,missense_variant,p.Tyr95His,ENST00000442857,;RMDN2,downstream_gene_variant,,ENST00000414644,;RMDN2-AS1,intron_variant,,ENST00000414365,;RMDN2,3_prime_UTR_variant,,ENST00000440353,;RMDN2,non_coding_transcript_exon_variant,,ENST00000496735,;	uc002rql.2	c.718T>C	841/1381	3	3			c.718T>C						2	SNP	c.(718-720)TAT>CAT	64	64			ovary(1)	1	Broad	family with sequence similarity 82, member A1			38202445		0.254	ENSG00000115841	5529	g.chr2:38202445T>C		cytoplasm|integral to membrane|microtubule|spindle pole	binding							169.598613	KEEP	26	23	-1	28	35	26	23	-1	169.852962	28	35	0.445545	1	0	0	0	0	1	0	0	0	--	--		0	C			FAM82A1_uc002rqn.1_Missense_Mutation_p.Y418H|FAM82A1_uc002rqk.1_Missense_Mutation_p.Y95H|FAM82A1_uc002rqm.2_Missense_Mutation_p.Y95H	194	GBM-27-1835-TP	p.Y240H	T	AAAGAAACATTATGCTAATAT	NM_144713	NP_653314	38202445	Q96LZ7	RMD2_HUMAN	0			4	841	+	C	C			Missense_Mutation	240						
RMDN3	55177	broad.mit.edu	GRCh37	15	41046948	41046948	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01	TCGA-06-0939-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260385.6:c.34G>A	p.Ala12Thr	p.A12T	ENST00000260385		12	Gcc/Acc	0			1			T	A/T	uc001zmo.1	protein_coding	YES	CCDS10063.1			34/1413										0	c.(34-36)GCC>ACC			Low_complexity_(Seg):seg	family with sequence similarity 82, member A2				ENSP00000260385		12-Jan									COSM3401710	12-Jan	.		ENST00000260385	Transcript			apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding	ENSG00000137824	g.chr15:41046948C>T	25550			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=RMD3_HUMAN&rb=1&re=39&var=A12T	NA	getma.org/?cm=var&var=hg19,15,41046948,C,T&fts=all	A12T	--	--	1																																		FAM82A2_uc001zmp.1_Missense_Mutation_p.A12T|FAM82A2_uc001zmq.1_Missense_Mutation_p.A12T	1	1		unknown(0)	p.A12T	NM_018145	NP_060615		tolerated(0.45)	1	RMD3_HUMAN	RMDN3	HGNC	Q96TC7	RMD3_HUMAN			H0YLG5_HUMAN		2	178	-			UPI0000037778	12					SNV	RMDN3,missense_variant,p.Ala12Thr,ENST00000260385,;RMDN3,missense_variant,p.Ala12Thr,ENST00000338376,NM_018145.1;RMDN3,missense_variant,p.Ala12Thr,ENST00000560905,;RMDN3,missense_variant,p.Ala12Thr,ENST00000560460,;RMDN3,upstream_gene_variant,,ENST00000558560,;RMDN3,missense_variant,p.Ala12Thr,ENST00000558777,;	uc001zmo.1	c.34G>A	1102/3138	2	2			c.34G>A						15	SNP	c.(34-36)GCC>ACC	41	41				0	Broad	family with sequence similarity 82, member A2			41046948		0.572	ENSG00000137824	5530	g.chr15:41046948C>T	apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding							3.890403	KEEP	2	3	-1	19	13	2	3	-1	8.037247	19	13	0.129032	1	0	0	0	0	1	0	0	0	--	--		0	T			FAM82A2_uc001zmp.1_Missense_Mutation_p.A12T|FAM82A2_uc001zmq.1_Missense_Mutation_p.A12T	78	GBM-06-0939-TP	p.A12T	C	CCCAGCCCGGCACGGGCACCA	NM_018145	NP_060615	41046948	Q96TC7	RMD3_HUMAN	0			2	178	-	T	T			Missense_Mutation	12						
RMI1	80010		GRCh37	9	86616796	86616796	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000325875.3:c.895C>A	p.Pro299Thr	p.P299T	ENST00000325875	NM_024945.2	299	Cca/Aca	0																																																																																																																																																																																																																																												
RMND5A	64795	broad.mit.edu	GRCh37	2	86992995	86992995	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0648-01	TCGA-06-0648-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283632.4:c.702G>A	p.Leu234=	p.L234=	ENST00000283632	NM_022780.3	234	ttG/ttA	0			1			A	L	uc010ytm.1	protein_coding	YES	CCDS1991.1			702/1176									ovary(1)|skin(1)	2	c.(700-702)TTG>TTA			Pfam_domain:PF10607,hmmpanther:PTHR12170,hmmpanther:PTHR12170:SF5,SMART_domains:SM00757	required for meiotic nuclear division 5 homolog				ENSP00000283632		9-Jun									COSM2151364	9-Jun	.		ENST00000283632	Transcript						ENSG00000153561	g.chr2:86992995G>A	25850			LOW								--	--	1																																		RMND5A_uc002srs.3_Intron|RMND5A_uc002srr.2_Silent_p.L234L	1	1			p.L234L	NM_022780	NP_073617			1	RMD5A_HUMAN	RMND5A	HGNC	Q9H871	RMD5A_HUMAN			B4DZV7_HUMAN		6	1079	+			UPI000000DC2B	234					SNV	RMND5A,synonymous_variant,p.=,ENST00000283632,NM_022780.3;RMND5A,non_coding_transcript_exon_variant,,ENST00000472843,;	uc010ytm.1	c.702G>A	1197/6301	2	2			c.702G>A						2	SNP	c.(700-702)TTG>TTA	44	44			ovary(1)|skin(1)	2	Broad	required for meiotic nuclear division 5 homolog			86992995		0.428	ENSG00000153561	13179	g.chr2:86992995G>A										135.400922	KEEP	21	24	-1	23	19	21	24	-1	135.531794	23	19	0.54321	1	0	0	0	0	0	0	1	0	--	--		0	A			RMND5A_uc002srs.3_Intron|RMND5A_uc002srr.2_Silent_p.L234L	61	GBM-06-0648-TP	p.L234L	G	TTCAGGTTTTGATGGGAAGCC	NM_022780	NP_073617	86992995	Q9H871	RMD5A_HUMAN	0			6	1079	+	A	A			Silent	234						
RNA5SP206	106478999	broad.mit.edu	GRCh37	6	32041532	32041532	+	downstream_gene_variant	3'Flank	SNP	G	G	A			TCGA-41-3393-01	TCGA-41-3393-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.				ENST00000516703				0			1			A		uc003nzl.2	rRNA	YES														0	c.(4573-4575)CGA>TGA	4753			tenascin XB isoform 1 precursor															rs779751914,COSM3410973,COSM3410972		.		ENST00000516703	Transcript			actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	ENSG00000252512	g.chr6:32041532G>A	43106			MODIFIER		0	NA	NA	NA	getma.org/?cm=var&var=hg19,6,32041532,G,A&fts=all	R1612*	--	--	1																																			0,1,1	1			p.R1525*	NM_019105	NP_061978			0,1,1		RNA5SP206	HGNC	P22105	TENX_HUMAN					12	4775	-				1612			Fibronectin type-III 8.		SNV	TNXB,stop_gained,p.Arg1525Ter,ENST00000375244,;TNXB,stop_gained,p.Arg1525Ter,ENST00000375247,NM_019105.6;RNA5SP206,downstream_gene_variant,,ENST00000516703,;	uc003nzl.2	c.4573C>T	-/121	5	2			c.4573C>T						6	SNP	c.(4573-4575)CGA>TGA	48	48				0	Broad	tenascin XB isoform 1 precursor			32041532		0.567	ENSG00000252512	16096	g.chr6:32041532G>A	actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding							24.667807	KEEP	4	6	-1	7	12	4	6	-1	25.099281	7	12	0.36	1	0	0	0	0	0	1	0	0	--	--		0	A				255	GBM-41-3393-TP	p.R1525*	G	GTGACCTCTCGCTGGTCTGCC	NM_019105	NP_061978	32041532	P22105	TENX_HUMAN	0			12	4775	-	A	A			Nonsense_Mutation	1612			Fibronectin type-III 8.			
RNASE10	0	broad.mit.edu	GRCh37	14	20979116	20979116	+	synonymous_variant	Silent	SNP	G	G	A	rs148975319		TCGA-14-2554-01	TCGA-14-2554-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328444.5:c.486G>A	p.Lys162=	p.K162=	ENST00000328444	NM_001012975.1	162	aaG/aaA	0			1			A	K	uc010tlj.1	protein_coding	YES	CCDS32035.1			486/651										0	c.(484-486)AAG>AAA			Superfamily_domains:SSF54076,SMART_domains:SM00092,Pfam_domain:PF00074,Gene3D:3.10.130.10,hmmpanther:PTHR11437:SF2,hmmpanther:PTHR11437	ribonuclease, RNase A family, 10 (non-active)				ENSP00000333358		1-Jan	1.65E-05			0.000116		1.52E-05			rs777764075,COSM3401203	1-Jan	.		ENST00000328444	Transcript				extracellular region	nucleic acid binding|pancreatic ribonuclease activity	ENSG00000182545	g.chr14:20979116G>A	19275			LOW								--	--	1																																		RNASE10_uc001vxp.2_Silent_p.K190K	0,1	1			p.K162K	NM_001012975	NP_001012993			0,1	RNS10_HUMAN	RNASE10	HGNC	Q5GAN6	RNS10_HUMAN	Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)			1	486	+	all_cancers(95;0.00123)		UPI00001986DE	162					SNV	RNASE10,synonymous_variant,p.=,ENST00000430083,;RNASE10,synonymous_variant,p.=,ENST00000328444,NM_001012975.1;	uc010tlj.1	c.486G>A	505/717	1	1			c.486G>A						14	SNP	c.(484-486)AAG>AAA	63	63				0	Broad	ribonuclease, RNase A family, 10 (non-active)			20979116		0.478	ENSG00000182545	13182	g.chr14:20979116G>A		extracellular region	nucleic acid binding|pancreatic ribonuclease activity							81.962568	KEEP	12	20	-1	38	26	12	20	-1	84.228836	38	26	0.325301	1	0	0	0	0	0	0	1	0	--	--		0	A			RNASE10_uc001vxp.2_Silent_p.K190K	150	GBM-14-2554-TP	p.K162K	G	GTGAGCTCAAGGGGGGAAAAT	NM_001012975	NP_001012993	20979116	Q5GAN6	RNS10_HUMAN	0	Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)	1	486	+	A	A	all_cancers(95;0.00123)		Silent	162						
RNASE11	0	broad.mit.edu	GRCh37	14	21052495	21052495	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-14-0790-01	TCGA-14-0790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398008.2:c.139C>A	p.Gln47Lys	p.Q47K	ENST00000398008		47	Cag/Aag	0			1			T	Q/K	uc010ahv.2	protein_coding		CCDS9553.1			139/600									ovary(3)	3	c.(139-141)CAG>AAG			hmmpanther:PTHR11437,hmmpanther:PTHR11437:SF22	ribonuclease, RNase A family, 11 (non-active)				ENSP00000381092		3-Mar									COSM3401205	3-Mar	.		ENST00000398008	Transcript				extracellular region	nucleic acid binding|pancreatic ribonuclease activity	ENSG00000173464	g.chr14:21052495G>T	19269			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=RNS11_HUMAN&rb=1&re=70&var=Q47K	NA	getma.org/?cm=var&var=hg19,14,21052495,G,T&fts=all	Q47K	--	--	1																																		RNASE11_uc010ahx.2_Missense_Mutation_p.Q47K|RNASE11_uc010ahw.2_Missense_Mutation_p.Q47K|RNASE11_uc001vxs.2_Missense_Mutation_p.Q47K	1			benign(0.086)	p.Q47K	NM_145250	NP_660293		deleterious(0.03)	1	RNS11_HUMAN	RNASE11	HGNC	Q8TAA1	RNS11_HUMAN	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)	Q5GAN5_HUMAN,G3V5L6_HUMAN,G3V3W8_HUMAN,C9JYR4_HUMAN,C9JHH6_HUMAN		2	324	-	all_cancers(95;0.00238)	all_lung(585;0.235)	UPI000000CC00	47					SNV	RNASE11,missense_variant,p.Gln47Lys,ENST00000610205,NM_145250.3;RNASE11,missense_variant,p.Gln47Lys,ENST00000553849,;RNASE11,missense_variant,p.Gln47Lys,ENST00000398009,;RNASE11,missense_variant,p.Gln47Lys,ENST00000432835,;RNASE11,missense_variant,p.Gln47Lys,ENST00000555841,;RNASE11,missense_variant,p.Gln47Lys,ENST00000398008,;RNASE11,missense_variant,p.Gln47Lys,ENST00000443456,;RNASE11,missense_variant,p.Gln47Lys,ENST00000413502,;RNASE11,missense_variant,p.Gln47Lys,ENST00000557105,;RNASE11,missense_variant,p.Gln47Lys,ENST00000557503,;RNASE11,missense_variant,p.Gln47Lys,ENST00000554842,;RNASE11,downstream_gene_variant,,ENST00000555283,;RP11-14J7.6,upstream_gene_variant,,ENST00000554006,;RP11-14J7.6,upstream_gene_variant,,ENST00000553604,;RP11-14J7.6,upstream_gene_variant,,ENST00000554529,;RP11-14J7.6,upstream_gene_variant,,ENST00000556487,;RNASE11,3_prime_UTR_variant,,ENST00000335950,;	uc010ahv.2	c.139C>A	327/872	2	2			c.139C>A						14	SNP	c.(139-141)CAG>AAG	47	47			ovary(3)	3	Broad	ribonuclease, RNase A family, 11 (non-active)			21052495		0.378	ENSG00000173464	13183	g.chr14:21052495G>T		extracellular region	nucleic acid binding|pancreatic ribonuclease activity							649.612173	KEEP	110	122	0.474137931	170	156	110	122	0.474137931	652.608227	170	156	0.416327	1	0	0	0	0	1	0	0	0	--	--		0	T			RNASE11_uc010ahx.2_Missense_Mutation_p.Q47K|RNASE11_uc010ahw.2_Missense_Mutation_p.Q47K|RNASE11_uc001vxs.2_Missense_Mutation_p.Q47K	137	GBM-14-0790-TP	p.Q47K	G	TCAATGGTCTGTTTTTCTTGG	NM_145250	NP_660293	21052495	Q8TAA1	RNS11_HUMAN	0	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)	2	324	-	T	T	all_cancers(95;0.00238)	all_lung(585;0.235)	Missense_Mutation	47						
RNASE11	0	broad.mit.edu	GRCh37	14	21052270	21052270	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs144501463	byFrequency	TCGA-27-1838-01	TCGA-27-1838-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398008.2:c.364C>T	p.Arg122Cys	p.R122C	ENST00000398008		122	Cgc/Tgc	0	A:0.0005		1			A	R/C	uc010ahv.2	protein_coding		CCDS9553.1			364/600									ovary(3)	3	c.(364-366)CGC>TGC			Gene3D:3.10.130.10,Pfam_domain:PF00074,hmmpanther:PTHR11437,hmmpanther:PTHR11437:SF22,Superfamily_domains:SSF54076	ribonuclease, RNase A family, 11 (non-active)			A:0.0006	ENSP00000381092		3-Mar	0.000404			0.000116		0.00072			rs144501463,COSM3401204	3-Mar	common_variant		ENST00000398008	Transcript				extracellular region	nucleic acid binding|pancreatic ribonuclease activity	ENSG00000173464	g.chr14:21052270G>A	19269			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=RNS11_HUMAN&rb=71&re=194&var=R122C	NA	getma.org/?cm=var&var=hg19,14,21052270,G,A&fts=all	R122C	--	--	1																																		RNASE11_uc010ahx.2_Missense_Mutation_p.R122C|RNASE11_uc010ahw.2_Missense_Mutation_p.R122C|RNASE11_uc001vxs.2_Missense_Mutation_p.R122C	0,1			benign(0)	p.R122C	NM_145250	NP_660293		deleterious(0.03)	0,1	RNS11_HUMAN	RNASE11	HGNC	Q8TAA1	RNS11_HUMAN	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)	Q5GAN5_HUMAN,G3V5L6_HUMAN,G3V3W8_HUMAN,C9JYR4_HUMAN,C9JHH6_HUMAN		2	549	-	all_cancers(95;0.00238)	all_lung(585;0.235)	UPI000000CC00	122					SNV	RNASE11,missense_variant,p.Arg122Cys,ENST00000610205,NM_145250.3;RNASE11,missense_variant,p.Arg122Cys,ENST00000553849,;RNASE11,missense_variant,p.Arg122Cys,ENST00000398009,;RNASE11,missense_variant,p.Arg122Cys,ENST00000432835,;RNASE11,missense_variant,p.Arg122Cys,ENST00000555841,;RNASE11,missense_variant,p.Arg122Cys,ENST00000398008,;RNASE11,missense_variant,p.Arg122Cys,ENST00000443456,;RNASE11,missense_variant,p.Arg122Cys,ENST00000413502,;RNASE11,missense_variant,p.Arg122Cys,ENST00000557105,;RNASE11,missense_variant,p.Arg122Cys,ENST00000557503,;RNASE11,missense_variant,p.Arg122Cys,ENST00000554842,;RNASE11,downstream_gene_variant,,ENST00000555283,;RP11-14J7.6,upstream_gene_variant,,ENST00000554006,;RP11-14J7.6,upstream_gene_variant,,ENST00000553604,;RP11-14J7.6,upstream_gene_variant,,ENST00000554529,;RP11-14J7.6,upstream_gene_variant,,ENST00000556487,;RNASE11,3_prime_UTR_variant,,ENST00000335950,;	uc010ahv.2	c.364C>T	552/872	2	2			c.364C>T						14	SNP	c.(364-366)CGC>TGC	20	20			ovary(3)	3	Broad	ribonuclease, RNase A family, 11 (non-active)			21052270		0.488	ENSG00000173464	13183	g.chr14:21052270G>A		extracellular region	nucleic acid binding|pancreatic ribonuclease activity							145.04019	KEEP	21	26	-1	32	32	21	26	-1	145.616386	32	32	0.422018	1	0	0	0	0	1	0	0	0	--	--		0	A			RNASE11_uc010ahx.2_Missense_Mutation_p.R122C|RNASE11_uc010ahw.2_Missense_Mutation_p.R122C|RNASE11_uc001vxs.2_Missense_Mutation_p.R122C	197	GBM-27-1838-TP	p.R122C	G	GTGGAGCTGCGGATGAAGTTA	NM_145250	NP_660293	21052270	Q8TAA1	RNS11_HUMAN	0	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)	2	549	-	A	A	all_cancers(95;0.00238)	all_lung(585;0.235)	Missense_Mutation	122						
RNASE2	0	broad.mit.edu	GRCh37	14	21424331	21424331	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-41-2575-01	TCGA-41-2575-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304625.2:c.401A>T	p.Tyr134Phe	p.Y134F	ENST00000304625	NM_002934.2	134	tAt/tTt	0			1			T	Y/F	uc010aif.2	protein_coding	YES	CCDS9561.1			401/486									ovary(1)	1	c.(400-402)TAT>TTT			Prints_domain:PR00794,Superfamily_domains:SSF54076,SMART_domains:SM00092,Pfam_domain:PF00074,Gene3D:3.10.130.10,hmmpanther:PTHR11437,hmmpanther:PTHR11437:SF3	ribonuclease, RNase A family, 2 (liver,				ENSP00000303276		2-Feb									COSM3401208	2-Feb	.		ENST00000304625	Transcript			chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	ENSG00000169385	g.chr14:21424331A>T	10045			MODERATE		1.385	low	getma.org/?cm=msa&ty=f&p=RNAS2_HUMAN&rb=31&re=158&var=Y134F	getma.org/pdb.php?prot=RNAS2_HUMAN&from=31&to=158&var=Y134F	getma.org/?cm=var&var=hg19,14,21424331,A,T&fts=all	Y134F	--	--	1																																		RNASE2_uc001vyl.1_Missense_Mutation_p.Y134F	1	1		possibly_damaging(0.698)	p.Y134F	NM_002934	NP_002925		tolerated(0.24)	1	RNAS2_HUMAN	RNASE2	HGNC	P10153	RNAS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)			2	470	+	all_cancers(95;0.00381)		UPI000004D2F8	134					SNV	RNASE2,missense_variant,p.Tyr134Phe,ENST00000304625,NM_002934.2;	uc010aif.2	c.401A>T	491/755	1	1			c.401A>T						14	SNP	c.(400-402)TAT>TTT	3	3			ovary(1)	1	Broad	ribonuclease, RNase A family, 2 (liver,			21424331		0.463	ENSG00000169385	13186	g.chr14:21424331A>T	chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity							-23.207822	KEEP	1	3	-1	71	59	1	3	-1	7.586016	71	59	0.03125	1	0	0	0	0	1	0	0	0	--	--		0	T			RNASE2_uc001vyl.1_Missense_Mutation_p.Y134F	253	GBM-41-2575-TP	p.Y134F	A	AACATGTTCTATATAGTTGCA	NM_002934	NP_002925	21424331	P10153	RNAS2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	2	470	+	T	T	all_cancers(95;0.00381)		Missense_Mutation	134						
RNASE4	0	broad.mit.edu	GRCh37	14	21167918	21167918	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01	TCGA-19-2629-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397995.2:c.388C>T	p.Arg130Cys	p.R130C	ENST00000397995		130	Cgt/Tgt	0			1			T	R/C	uc001vxy.3	protein_coding		CCDS9555.1			388/444									central_nervous_system(1)	1	c.(388-390)CGT>TGT			hmmpanther:PTHR11437,hmmpanther:PTHR11437:SF10,Gene3D:3.10.130.10,Pfam_domain:PF00074,SMART_domains:SM00092,Superfamily_domains:SSF54076,Prints_domain:PR00794	ribonuclease, RNase A family, 4 precursor				ENSP00000381081		2-Feb	3.29E-05	0.000202		0.000233					rs756611890,COSM3401207	2-Feb	.		ENST00000397995	Transcript			mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity	ENSG00000258818	g.chr14:21167918C>T	10047			MODERATE		2.19	medium	getma.org/?cm=msa&ty=f&p=RNAS4_HUMAN&rb=29&re=146&var=R130C	getma.org/pdb.php?prot=RNAS4_HUMAN&from=29&to=146&var=R130C	getma.org/?cm=var&var=hg19,14,21167918,C,T&fts=all	R130C	--	--	1																																		RNASE4_uc001vxx.3_RNA|RNASE4_uc001vya.2_Missense_Mutation_p.R130C	0,1			benign(0.145)	p.R130C	NM_002937	NP_002928		tolerated(0.07)	0,1	RNAS4_HUMAN	RNASE4	HGNC	P34096	RNAS4_HUMAN	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)	Q53XB4_HUMAN		2	951	+	all_cancers(95;0.00304)		UPI000000CBC2	130					SNV	RNASE4,missense_variant,p.Arg130Cys,ENST00000555835,NM_002937.3;RNASE4,missense_variant,p.Arg130Cys,ENST00000304704,;RNASE4,missense_variant,p.Arg130Cys,ENST00000555597,NM_194431.1,NM_001282193.1;RNASE4,missense_variant,p.Arg130Cys,ENST00000397995,;AL163636.6,3_prime_UTR_variant,,ENST00000553909,NM_001282192.1;RP11-903H12.3,intron_variant,,ENST00000554286,;ANG,downstream_gene_variant,,ENST00000554073,;	uc001vxy.3	c.388C>T	519/853	2	2			c.388C>T						14	SNP	c.(388-390)CGT>TGT	24	24			central_nervous_system(1)	1	Broad	ribonuclease, RNase A family, 4 precursor			21167918		0.527	ENSG00000258818	13188	g.chr14:21167918C>T	mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity	Esophageal Squamous(59;1059 1362 26290 51151)			Esophageal Squamous(59;1059 1362 26290 51151)			55.805312	KEEP	14	13	-1	55	58	14	13	-1	65.46159	55	58	0.206612	1	0	0	0	0	1	0	0	0	--	--		0	T			RNASE4_uc001vxx.3_RNA|RNASE4_uc001vya.2_Missense_Mutation_p.R130C	166	GBM-19-2629-TP	p.R130C	C	GAGCACTAGACGTGTTGTCAT	NM_002937	NP_002928	21167918	P34096	RNAS4_HUMAN	0	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)	2	951	+	T	T	all_cancers(95;0.00304)		Missense_Mutation	130						
RNASEH2B	0	broad.mit.edu	GRCh37	13	51530575	51530575	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-19-1390-01	TCGA-19-1390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336617.3:c.904G>C	p.Gly302Arg	p.G302R	ENST00000336617	NM_024570.3	302	Ggg/Cgg	0			1			C	G/R	uc001vfa.3	protein_coding	YES	CCDS9425.1			904/939										0	c.(904-906)GGG>CGG			hmmpanther:PTHR13383:SF11,hmmpanther:PTHR13383	ribonuclease H2, subunit B isoform 1				ENSP00000337623		11-Nov									COSM3399411	11-Nov	.		ENST00000336617	Transcript	1		RNA catabolic process	nucleus|ribonuclease H2 complex		ENSG00000136104	g.chr13:51530575G>C	25671			MODERATE		1.395	low	getma.org/?cm=msa&ty=f&p=RNH2B_HUMAN&rb=272&re=312&var=G302R	NA	getma.org/?cm=var&var=hg19,13,51530575,G,C&fts=all	G302R	--	--	1																																		RNASEH2B_uc001vfb.3_Intron	1	1		possibly_damaging(0.824)	p.G302R	NM_024570	NP_078846		tolerated(0.05)	1	RNH2B_HUMAN	RNASEH2B	HGNC	Q5TBB1	RNH2B_HUMAN		GBM - Glioblastoma multiforme(99;9e-08)			11	1225	+		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)	UPI000013CFE7	302					SNV	RNASEH2B,missense_variant,p.Gly302Arg,ENST00000336617,NM_024570.3;RNASEH2B,intron_variant,,ENST00000422660,NM_001142279.2;RNASEH2B,non_coding_transcript_exon_variant,,ENST00000495244,;RNASEH2B,non_coding_transcript_exon_variant,,ENST00000465541,;	uc001vfa.3	c.904G>C	1303/1629	3	3			c.904G>C						13	SNP	c.(904-906)GGG>CGG	4	4				0	Broad	ribonuclease H2, subunit B isoform 1			51530575		0.299	ENSG00000136104	13195	g.chr13:51530575G>C	RNA catabolic process	nucleus|ribonuclease H2 complex								31.171758	KEEP	9	4	-1	16	22	9	4	-1	33.729872	16	22	0.255319	1	0	0	0	0	1	0	0	0	--	--		0	C			RNASEH2B_uc001vfb.3_Intron	159	GBM-19-1390-TP	p.G302R	G	TACCTTTTTTGGGGTAAAAAA	NM_024570	NP_078846	51530575	Q5TBB1	RNH2B_HUMAN	0		GBM - Glioblastoma multiforme(99;9e-08)	11	1225	+	C	C		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)	Missense_Mutation	302						
RNASET2	0	broad.mit.edu	GRCh37	6	167360227	167360227	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	T			TCGA-28-2514-01	TCGA-28-2514-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000476238.2:c.204G>A	p.Trp68Ter	p.W68*	ENST00000476238		68	tgG/tgA	0			1			T	W/*	uc003qve.2	protein_coding		CCDS5295.1			204/771										0	c.(202-204)TGG>TGA			Gene3D:3.90.730.10,Pfam_domain:PF00445,PROSITE_patterns:PS00530,hmmpanther:PTHR11240,Superfamily_domains:SSF55895	ribonuclease T2 precursor				ENSP00000422846		10-May									COSM3410784	10-May	.		ENST00000476238	Transcript	1		RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding	ENSG00000026297	g.chr6:167360227C>T	21686			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,6,167360227,C,T&fts=all	W68*	--	--	1																																		RNASET2_uc003qvh.2_Intron|RNASET2_uc003qvf.2_5'UTR|RNASET2_uc003qvg.2_Silent_p.K5K|RNASET2_uc003qvi.1_Intron	1				p.W68*	NM_003730	NP_003721			1	RNT2_HUMAN	RNASET2	HGNC	O00584	RNT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)	D6RHI9_HUMAN,D6REQ6_HUMAN		4	611	-		Breast(66;1.53e-05)|Ovarian(120;0.0606)	UPI0000001C84	68					SNV	RNASET2,stop_gained,p.Trp30Ter,ENST00000366855,;RNASET2,stop_gained,p.Trp68Ter,ENST00000508775,NM_003730.4;RNASET2,stop_gained,p.Trp68Ter,ENST00000478180,;RNASET2,stop_gained,p.Trp68Ter,ENST00000476238,;RP11-514O12.4,stop_gained,p.Trp49Ter,ENST00000507747,;RNASET2,splice_region_variant,,ENST00000496851,;RNASET2,upstream_gene_variant,,ENST00000467705,;RNASET2,upstream_gene_variant,,ENST00000509073,;RNASET2,stop_gained,p.Trp68Ter,ENST00000421787,;RNASET2,missense_variant,p.Ala70Thr,ENST00000028008,;RNASET2,splice_region_variant,,ENST00000499370,;RNASET2,intron_variant,,ENST00000358165,;AL133458.1,upstream_gene_variant,,ENST00000356949,;	uc003qve.2	c.204G>A	272/887	5	2			c.204G>A						6	SNP	c.(202-204)TGG>TGA	42	42				0	Broad	ribonuclease T2 precursor			167360227		0.348	ENSG00000026297	13200	g.chr6:167360227C>T	RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding							26.542163	KEEP	6	5	-1	13	17	6	5	-1	28.13704	13	17	0.277778	1	0	0	0	0	0	1	0	0	--	--		0	T			RNASET2_uc003qvh.2_Intron|RNASET2_uc003qvf.2_5'UTR|RNASET2_uc003qvg.2_Silent_p.K5K|RNASET2_uc003qvi.1_Intron	214	GBM-28-2514-TP	p.W68*	C	TTTTATCGGGCCTGGAAATTC	NM_003730	NP_003721	167360227	O00584	RNT2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)	4	611	-	T	T		Breast(66;1.53e-05)|Ovarian(120;0.0606)	Nonsense_Mutation	68						
RNF113A	7737	broad.mit.edu	GRCh37	X	119005259	119005259	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0939-01	TCGA-06-0939-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371442.2:c.318G>A	p.Ala106=	p.A106=	ENST00000371442	NM_006978.2	106	gcG/gcA	0			1			T	A	uc004esb.2	protein_coding	YES	CCDS14589.1			318/1032									breast(2)	2	c.(316-318)GCG>GCA			hmmpanther:PTHR12930,hmmpanther:PTHR12930:SF2	ring finger protein 113A				ENSP00000360497		1-Jan									COSM2152380	1-Jan	.		ENST00000371442	Transcript	1				nucleic acid binding|zinc ion binding	ENSG00000125352	g.chrX:119005259C>T	12974			LOW								--	--	1																																		NDUFA1_uc004esc.3_5'Flank	1	1			p.A106A	NM_006978	NP_008909			1	R113A_HUMAN	RNF113A	HGNC	O15541	R113A_HUMAN					1	533	-			UPI000013C310	106					SNV	RNF113A,synonymous_variant,p.=,ENST00000371442,NM_006978.2;NDUFA1,upstream_gene_variant,,ENST00000371437,NM_004541.3;	uc004esb.2	c.318G>A	533/1295	1	1			c.318G>A						23	SNP	c.(316-318)GCG>GCA	7	7			breast(2)	2	Broad	ring finger protein 113A			119005259		0.552	ENSG00000125352	13209	g.chrX:119005259C>T			nucleic acid binding|zinc ion binding							543.980348	KEEP	92	123	-1	239	239	92	123	-1	561.934095	239	239	0.319355	1	0	0	0	0	0	0	1	0	--	--		0	T			NDUFA1_uc004esc.3_5'Flank	78	GBM-06-0939-TP	p.A106A	C	CCACGGGTTTCGCCGAACGGG	NM_006978	NP_008909	119005259	O15541	R113A_HUMAN	0			1	533	-	T	T			Silent	106						
RNF113A	0	broad.mit.edu	GRCh37	X	119004909	119004909	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01	TCGA-19-2619-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371442.2:c.668G>A	p.Arg223His	p.R223H	ENST00000371442	NM_006978.2	223	cGt/cAt	0			1			T	R/H	uc004esb.2	protein_coding	YES	CCDS14589.1			668/1032									breast(2)	2	c.(667-669)CGT>CAT			PROSITE_profiles:PS50103,hmmpanther:PTHR12930,hmmpanther:PTHR12930:SF2,Gene3D:1m9oA00,SMART_domains:SM00356,Superfamily_domains:SSF90229	ring finger protein 113A				ENSP00000360497		1-Jan									COSM2156168	1-Jan	.		ENST00000371442	Transcript	1				nucleic acid binding|zinc ion binding	ENSG00000125352	g.chrX:119004909C>T	12974			MODERATE		3.31	medium	getma.org/?cm=msa&ty=f&p=R113A_HUMAN&rb=177&re=243&var=R223H	NA	getma.org/?cm=var&var=hg19,X,119004909,C,T&fts=all	R223H	--	--	1																																		NDUFA1_uc004esc.3_5'Flank	1	1		probably_damaging(0.924)	p.R223H	NM_006978	NP_008909		deleterious(0.02)	1	R113A_HUMAN	RNF113A	HGNC	O15541	R113A_HUMAN					1	883	-			UPI000013C310	223			C3H1-type.		SNV	RNF113A,missense_variant,p.Arg223His,ENST00000371442,NM_006978.2;NDUFA1,upstream_gene_variant,,ENST00000371437,NM_004541.3;	uc004esb.2	c.668G>A	883/1295	2	2			c.668G>A						23	SNP	c.(667-669)CGT>CAT	43	43			breast(2)	2	Broad	ring finger protein 113A			119004909		0.522	ENSG00000125352	13209	g.chrX:119004909C>T			nucleic acid binding|zinc ion binding							275.656314	KEEP	52	44	-1	53	69	52	44	-1	276.411109	53	69	0.436019	1	0	0	0	0	1	0	0	0	--	--		0	T			NDUFA1_uc004esc.3_5'Flank	161	GBM-19-2619-TP	p.R223H	C	GTAATCTGAACGGTCATGGAG	NM_006978	NP_008909	119004909	O15541	R113A_HUMAN	0			1	883	-	T	T			Missense_Mutation	223			C3H1-type.			
RNF123	0	broad.mit.edu	GRCh37	3	49735348	49735348	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6701-01	TCGA-06-6701-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327697.6:c.373C>T	p.Arg125Cys	p.R125C	ENST00000327697	NM_022064.3	125	Cgc/Tgc	0			1			T	R/C	uc003cxh.2	protein_coding	YES	CCDS33758.1			373/3945									kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7	c.(373-375)CGC>TGC			PROSITE_profiles:PS50188,hmmpanther:PTHR13363,hmmpanther:PTHR13363:SF1,Superfamily_domains:SSF49899	ring finger protein 123				ENSP00000328287		Jun-39									COSM3408747	Jun-39	.		ENST00000327697	Transcript				cytoplasm	ligase activity|protein binding|zinc ion binding	ENSG00000164068	g.chr3:49735348C>T	21148			MODERATE		3.39	medium	getma.org/?cm=msa&ty=f&p=RN123_HUMAN&rb=74&re=254&var=R125C	getma.org/pdb.php?prot=RN123_HUMAN&from=74&to=254&var=R125C	getma.org/?cm=var&var=hg19,3,49735348,C,T&fts=all	R125C	--	--	1																																		RNF123_uc010hky.1_5'Flank|RNF123_uc003cxi.2_5'Flank	1	1		probably_damaging(0.998)	p.R125C	NM_022064	NP_071347		deleterious(0)	1	RN123_HUMAN	RNF123	HGNC	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	C9JN91_HUMAN		6	459	+			UPI00001D6A07	125			B30.2/SPRY.		SNV	RNF123,missense_variant,p.Arg125Cys,ENST00000327697,NM_022064.3;RNF123,5_prime_UTR_variant,,ENST00000432042,;RNF123,downstream_gene_variant,,ENST00000454491,;RNF123,missense_variant,p.Arg125Cys,ENST00000457726,;RNF123,non_coding_transcript_exon_variant,,ENST00000487805,;RNF123,non_coding_transcript_exon_variant,,ENST00000486102,;RNF123,upstream_gene_variant,,ENST00000494005,;RNF123,downstream_gene_variant,,ENST00000443204,;	uc003cxh.2	c.373C>T	517/4311	2	2			c.373C>T						3	SNP	c.(373-375)CGC>TGC	43	43			kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7	Broad	ring finger protein 123			49735348		0.557	ENSG00000164068	13215	g.chr3:49735348C>T		cytoplasm	ligase activity|protein binding|zinc ion binding							350.253576	KEEP	70	67	-1	84	111	70	67	-1	351.876508	84	111	0.419795	1	0	0	0	0	1	0	0	0	--	--		0	T			RNF123_uc010hky.1_5'Flank|RNF123_uc003cxi.2_5'Flank	115	GBM-06-6701-TP	p.R125C	C	TGGCACCATCCGCTCTACCAC	NM_022064	NP_071347	49735348	Q5XPI4	RN123_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	6	459	+	T	T			Missense_Mutation	125			B30.2/SPRY.			
RNF128	79589	broad.mit.edu	GRCh37	X	106038858	106038858	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0213-01	TCGA-06-0213-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255499.2:c.1202A>G	p.Asp401Gly	p.D401G	ENST00000255499	NM_194463.1	401	gAt/gGt	0			1			G	D/G	uc004eml.2	protein_coding	YES	CCDS14521.1			1202/1287									ovary(1)|central_nervous_system(1)	2	c.(1201-1203)GAT>GGT			hmmpanther:PTHR22765,hmmpanther:PTHR22765:SF30	ring finger protein 128 isoform 1				ENSP00000255499		7-Jul									COSM2150813,COSM2150814	7-Jul	.		ENST00000255499	Transcript				endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	ENSG00000133135	g.chrX:106038858A>G	21153			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=RN128_HUMAN&rb=321&re=428&var=D401G	NA	getma.org/?cm=var&var=hg19,X,106038858,A,G&fts=all	D401G	--	--	1																																		RNF128_uc004emk.2_Missense_Mutation_p.D375G	1,1	1		benign(0.122)	p.D401G	NM_194463	NP_919445		deleterious(0.03)	1,1	RN128_HUMAN	RNF128	HGNC	Q8TEB7	RN128_HUMAN			A0PJI4_HUMAN		7	1452	+			UPI0000046A7A	401					SNV	RNF128,missense_variant,p.Asp401Gly,ENST00000255499,NM_194463.1;RNF128,missense_variant,p.Asp375Gly,ENST00000324342,NM_024539.3;	uc004eml.2	c.1202A>G	1452/2817	3	3			c.1202A>G						23	SNP	c.(1201-1203)GAT>GGT	4	4			ovary(1)|central_nervous_system(1)	2	Broad	ring finger protein 128 isoform 1			106038858		0.358	ENSG00000133135	13218	g.chrX:106038858A>G		endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding							325.294413	KEEP	61	61	-1	128	125	61	61	-1	330.95522	128	125	0.350694	1	0	0	0	0	1	0	0	0	--	--		0	G			RNF128_uc004emk.2_Missense_Mutation_p.D375G	49	GBM-06-0213-TP	p.D401G	A	GTGGCAGTGGATGTTATTCCT	NM_194463	NP_919445	106038858	Q8TEB7	RN128_HUMAN	0			7	1452	+	G	G			Missense_Mutation	401						
RNF130	0	broad.mit.edu	GRCh37	5	179393829	179393829	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5214-01	TCGA-28-5214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521389.1:c.1127G>A	p.Gly376Glu	p.G376E	ENST00000521389	NM_018434.5	376	gGa/gAa	0			1			T	G/E	uc003mll.1	protein_coding	YES	CCDS4451.1			1127/1260									lung(2)|ovary(1)	3	c.(1126-1128)GGA>GAA			hmmpanther:PTHR22765,hmmpanther:PTHR22765:SF40	ring finger protein 130 precursor				ENSP00000430237		9-Jul									COSM3410189	9-Jul	.		ENST00000521389	Transcript			apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding	ENSG00000113269	g.chr5:179393829C>T	18280			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=GOLI_HUMAN&rb=316&re=417&var=G376E	NA	getma.org/?cm=var&var=hg19,5,179393829,C,T&fts=all	G376E	--	--	1																																		RNF130_uc003mlm.1_Missense_Mutation_p.G376E	1	1		possibly_damaging(0.905)	p.G376E	NM_018434	NP_060904		deleterious_low_confidence(0.02)	1	GOLI_HUMAN	RNF130	HGNC	Q86XS8	GOLI_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Q2HIY3_HUMAN		7	1534	-	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	UPI000003776B	376			Cytoplasmic (Potential).		SNV	RNF130,missense_variant,p.Gly376Glu,ENST00000522208,;RNF130,missense_variant,p.Gly376Glu,ENST00000521389,NM_018434.5;RNF130,missense_variant,p.Gly376Glu,ENST00000261947,NM_001280801.1;CTC-563A5.2,downstream_gene_variant,,ENST00000510240,;RNF130,3_prime_UTR_variant,,ENST00000520911,;RNF130,upstream_gene_variant,,ENST00000521901,;RNF130,downstream_gene_variant,,ENST00000519708,;	uc003mll.1	c.1127G>A	1543/2263	2	2			c.1127G>A						5	SNP	c.(1126-1128)GGA>GAA	30	30			lung(2)|ovary(1)	3	Broad	ring finger protein 130 precursor			179393829		0.587	ENSG00000113269	13220	g.chr5:179393829C>T	apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding	GBM(24;432 554 38471 39699 51728)		168	GBM(24;432 554 38471 39699 51728)		168	71.621014	KEEP	12	18	-1	27	25	12	18	-1	73.418226	27	25	0.337662	1	0	0	0	0	1	0	0	0	--	--		0	T			RNF130_uc003mlm.1_Missense_Mutation_p.G376E	221	GBM-28-5214-TP	p.G376E	C	GTTGATTTCTCCTGTTCTCGG	NM_018434	NP_060904	179393829	Q86XS8	GOLI_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	1534	-	T	T	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Missense_Mutation	376			Cytoplasmic (Potential).			
RNF130	0	broad.mit.edu	GRCh37	5	179467635	179467635	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-32-2634-01	TCGA-32-2634-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521389.1:c.260T>A	p.Leu87Gln	p.L87Q	ENST00000521389	NM_018434.5	87	cTg/cAg	0			1			T	L/Q	uc003mll.1	protein_coding	YES	CCDS4451.1			260/1260									lung(2)|ovary(1)	3	c.(259-261)CTG>CAG			Gene3D:3.50.30.30,hmmpanther:PTHR22765,hmmpanther:PTHR22765:SF40	ring finger protein 130 precursor				ENSP00000430237		9-Feb									COSM3410190	9-Feb	.		ENST00000521389	Transcript			apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding	ENSG00000113269	g.chr5:179467635A>T	18280			MODERATE		0.57	neutral	getma.org/?cm=msa&ty=f&p=GOLI_HUMAN&rb=66&re=169&var=L87Q	NA	getma.org/?cm=var&var=hg19,5,179467635,A,T&fts=all	L87Q	--	--	1																																		RNF130_uc003mlm.1_Missense_Mutation_p.L87Q	1	1		benign(0.021)	p.L87Q	NM_018434	NP_060904		tolerated(0.74)	1	GOLI_HUMAN	RNF130	HGNC	Q86XS8	GOLI_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Q2HIY3_HUMAN		2	667	-	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	UPI000003776B	87			Extracellular (Potential).		SNV	RNF130,missense_variant,p.Leu87Gln,ENST00000522208,;RNF130,missense_variant,p.Leu87Gln,ENST00000521389,NM_018434.5;RNF130,missense_variant,p.Leu87Gln,ENST00000261947,NM_001280801.1;RNF130,missense_variant,p.Leu87Gln,ENST00000520911,;	uc003mll.1	c.260T>A	676/2263	2	2			c.260T>A						5	SNP	c.(259-261)CTG>CAG	48	48			lung(2)|ovary(1)	3	Broad	ring finger protein 130 precursor			179467635		0.388	ENSG00000113269	13220	g.chr5:179467635A>T	apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding	GBM(24;432 554 38471 39699 51728)		168	GBM(24;432 554 38471 39699 51728)		168	44.674684	KEEP	6	11	-1	19	26	6	11	-1	47.298081	19	26	0.275862	1	0	0	0	0	1	0	0	0	--	--		0	T			RNF130_uc003mlm.1_Missense_Mutation_p.L87Q	241	GBM-32-2634-TP	p.L87Q	A	ATCACAGCCCAGATGATCAGC	NM_018434	NP_060904	179467635	Q86XS8	GOLI_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	667	-	T	T	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Missense_Mutation	87			Extracellular (Potential).			
RNF130	0	broad.mit.edu	GRCh37	5	179390508	179390508	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-41-2575-01	TCGA-41-2575-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521389.1:c.1207A>C	p.Met403Leu	p.M403L	ENST00000521389	NM_018434.5	403	Atg/Ctg	0			1			G	M/L	uc003mll.1	protein_coding	YES	CCDS4451.1			1207/1260									lung(2)|ovary(1)	3	c.(1207-1209)ATG>CTG			hmmpanther:PTHR22765,hmmpanther:PTHR22765:SF40,Transmembrane_helices:TMhelix	ring finger protein 130 precursor				ENSP00000430237		9-Aug									COSM3410188	9-Aug	.		ENST00000521389	Transcript			apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding	ENSG00000113269	g.chr5:179390508T>G	18280			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=GOLI_HUMAN&rb=316&re=417&var=M403L	NA	getma.org/?cm=var&var=hg19,5,179390508,T,G&fts=all	M403L	--	--	1																																		RNF130_uc003mlm.1_Intron	1	1		benign(0.017)	p.M403L	NM_018434	NP_060904		deleterious_low_confidence(0.03)	1	GOLI_HUMAN	RNF130	HGNC	Q86XS8	GOLI_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Q2HIY3_HUMAN		8	1614	-	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	UPI000003776B	403			Cytoplasmic (Potential).		SNV	RNF130,missense_variant,p.Met403Leu,ENST00000521389,NM_018434.5;RNF130,intron_variant,,ENST00000522208,;RNF130,intron_variant,,ENST00000261947,NM_001280801.1;CTC-563A5.2,upstream_gene_variant,,ENST00000510240,;RNF130,3_prime_UTR_variant,,ENST00000520911,;RNF130,non_coding_transcript_exon_variant,,ENST00000521901,;RNF130,downstream_gene_variant,,ENST00000519708,;	uc003mll.1	c.1207A>C	1623/2263	4	4			c.1207A>C						5	SNP	c.(1207-1209)ATG>CTG	30	30			lung(2)|ovary(1)	3	Broad	ring finger protein 130 precursor			179390508		0.443	ENSG00000113269	13220	g.chr5:179390508T>G	apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding	GBM(24;432 554 38471 39699 51728)		168	GBM(24;432 554 38471 39699 51728)		168	105.427821	KEEP	15	18	-1	18	16	15	18	-1	105.427821	18	16	0.5	1	0	0	0	0	1	0	0	0	--	--		0	G			RNF130_uc003mlm.1_Intron	253	GBM-41-2575-TP	p.M403L	T	CTGATGATCATGTAGCAGAGT	NM_018434	NP_060904	179390508	Q86XS8	GOLI_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1614	-	G	G	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Missense_Mutation	403			Cytoplasmic (Potential).			
RNF133	0	broad.mit.edu	GRCh37	7	122338662	122338662	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-26-5135-01	TCGA-26-5135-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340112.2:c.311T>G	p.Leu104Arg	p.L104R	ENST00000340112	NM_139175.1	104	cTt/cGt	0			1			C	L/R	uc003vkj.1	protein_coding	YES	CCDS5784.1			311/1131									skin(1)	1	c.(310-312)CTT>CGT			hmmpanther:PTHR22765:SF38,hmmpanther:PTHR22765,Gene3D:3.50.30.30,Pfam_domain:PF02225,Superfamily_domains:SSF52025	ring finger protein 133				ENSP00000344489		1-Jan									COSM3411533	1-Jan	.		ENST00000340112	Transcript				endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	ENSG00000188050	g.chr7:122338662A>C	21154			MODERATE		3.75	high	getma.org/?cm=msa&ty=f&p=RN133_HUMAN&rb=79&re=166&var=L104R	getma.org/pdb.php?prot=RN133_HUMAN&from=79&to=166&var=L104R	getma.org/?cm=var&var=hg19,7,122338662,A,C&fts=all	L104R	--	--	1																																		CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron	1	1		probably_damaging(1)	p.L104R	NM_139175	NP_631914		deleterious(0)	1	RN133_HUMAN	RNF133	HGNC	Q8WVZ7	RN133_HUMAN					1	547	-			UPI0000070D9A	104			PA.		SNV	RNF133,missense_variant,p.Leu104Arg,ENST00000340112,NM_139175.1;CADPS2,intron_variant,,ENST00000334010,NM_001167940.1;CADPS2,intron_variant,,ENST00000313070,;CADPS2,intron_variant,,ENST00000412584,NM_001009571.3;CADPS2,intron_variant,,ENST00000449022,NM_017954.10;RNF148,downstream_gene_variant,,ENST00000434824,NM_198085.1;RNF148,downstream_gene_variant,,ENST00000447240,;	uc003vkj.1	c.311T>G	549/1445	3	3			c.311T>G						7	SNP	c.(310-312)CTT>CGT	53	53			skin(1)	1	Broad	ring finger protein 133			122338662		0.458	ENSG00000188050	13221	g.chr7:122338662A>C		endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	Colon(198;1778 2057 7449 19869 45985)			Colon(198;1778 2057 7449 19869 45985)			-117.650465	KEEP	4	9	-1	305	316	4	9	-1	22.053645	305	316	0.023551	1	0	0	0	0	1	0	0	0	--	--		0	C			CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron	184	GBM-26-5135-TP	p.L104R	A	CCGTTCAATAAGTGCAAGCCA	NM_139175	NP_631914	122338662	Q8WVZ7	RN133_HUMAN	0			1	547	-	C	C			Missense_Mutation	104			PA.			
RNF141	50862		GRCh37	11	10536581	10536581	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000265981.2:c.575G>A	p.Arg192His	p.R192H	ENST00000265981	NM_016422.3	192	cGc/cAc	0																																																																																																																																																																																																																																												
RNF144A	9781	broad.mit.edu	GRCh37	2	7154885	7154885	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-2558-01	TCGA-06-2558-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320892.6:c.283A>G	p.Lys95Glu	p.K95E	ENST00000320892	NM_014746.3	95	Aag/Gag	0			1			G	K/E	uc002qys.2	protein_coding	YES	CCDS1657.1			283/879									ovary(1)|kidney(1)	2	c.(283-285)AAG>GAG			hmmpanther:PTHR11685,hmmpanther:PTHR11685:SF99,Pfam_domain:PF01485,SMART_domains:SM00647,Superfamily_domains:SSF57850,Superfamily_domains:SSF57850	ring finger protein 144				ENSP00000321330		9-May									COSM3407957	9-May	.		ENST00000320892	Transcript				Golgi apparatus|integral to membrane	ligase activity|zinc ion binding	ENSG00000151692	g.chr2:7154885A>G	20457			MODERATE		0.865	low	getma.org/?cm=msa&ty=f&p=R144A_HUMAN&rb=91&re=156&var=K95E	NA	getma.org/?cm=var&var=hg19,2,7154885,A,G&fts=all	K95E	--	--	1																																		RNF144A_uc002qyt.2_Intron	1	1		benign(0.155)	p.K95E	NM_014746	NP_055561		deleterious(0.01)	1	R144A_HUMAN	RNF144A	HGNC	P50876	R144A_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.195)	C9JLH4_HUMAN		5	725	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)	UPI00001E058A	95			IBR-type.		SNV	RNF144A,missense_variant,p.Lys95Glu,ENST00000320892,NM_014746.3;RNF144A,missense_variant,p.Lys91Glu,ENST00000432850,;RNF144A,downstream_gene_variant,,ENST00000416587,;RNF144A,downstream_gene_variant,,ENST00000433456,;RNF144A,intron_variant,,ENST00000467276,;RNF144A,intron_variant,,ENST00000480970,;RNF144A,non_coding_transcript_exon_variant,,ENST00000471060,;	uc002qys.2	c.283A>G	725/5743	4	4			c.283A>G						2	SNP	c.(283-285)AAG>GAG	32	32			ovary(1)|kidney(1)	2	Broad	ring finger protein 144			7154885		0.368	ENSG00000151692	13227	g.chr2:7154885A>G		Golgi apparatus|integral to membrane	ligase activity|zinc ion binding							-6.259642	KEEP	7	7	-1	109	111	7	7	-1	33.123885	109	111	0.061224	1	0	0	0	0	1	0	0	0	--	--		0	G			RNF144A_uc002qyt.2_Intron	82	GBM-06-2558-TP	p.K95E	A	AAGATATAAAAAGCTACAATT	NM_014746	NP_055561	7154885	P50876	R144A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(76;0.195)	5	725	+	G	G	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)	Missense_Mutation	95			IBR-type.			
RNF148	378925	broad.mit.edu	GRCh37	7	122342705	122342705	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6389-01	TCGA-06-6389-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000434824.1:c.100G>A	p.Gly34Arg	p.G34R	ENST00000434824	NM_198085.1	34	Gga/Aga	0	G:0		1			T	G/R	uc003vkk.1	protein_coding	YES	CCDS47692.1			100/918										0	c.(100-102)GGA>AGA			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR22765:SF31,hmmpanther:PTHR22765	ring finger protein 148 precursor			G:0.0002	ENSP00000388207		1-Jan	4.14E-05	0.000212		0.000124	0.000154			6.30E-05	rs370211791	1-Jan	.		ENST00000434824	Transcript				integral to membrane	zinc ion binding	ENSG00000235631	g.chr7:122342705C>T	22411			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=RN148_HUMAN&rb=1&re=66&var=G34R	NA	getma.org/?cm=var&var=hg19,7,122342705,C,T&fts=all	G34R	--	--	1																																		CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF148_uc010lkr.1_Missense_Mutation_p.G34R		1		possibly_damaging(0.794)	p.G34R	NM_198085	NP_932351		deleterious(0.02)		RN148_HUMAN	RNF148	HGNC	Q8N7C7	RN148_HUMAN			A4D0X4_HUMAN		1	317	-			UPI000006FF1E	34					SNV	RNF148,missense_variant,p.Gly34Arg,ENST00000434824,NM_198085.1;RNF148,missense_variant,p.Gly34Arg,ENST00000447240,;CADPS2,intron_variant,,ENST00000334010,NM_001167940.1;CADPS2,intron_variant,,ENST00000313070,;CADPS2,intron_variant,,ENST00000412584,NM_001009571.3;CADPS2,intron_variant,,ENST00000449022,NM_017954.10;RNF133,upstream_gene_variant,,ENST00000340112,NM_139175.1;	uc003vkk.1	c.100G>A	317/1304	1	1			c.100G>A						7	SNP	c.(100-102)GGA>AGA	16	16				0	Broad	ring finger protein 148 precursor			122342705		0.423	ENSG00000235631	13231	g.chr7:122342705C>T		integral to membrane	zinc ion binding							5.47564	KEEP	2	2	-1	20	15	2	2	-1	10.607918	20	15	0.114286	1	0	0	0	0	1	0	0	0	--	--		0	T			CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF148_uc010lkr.1_Missense_Mutation_p.G34R	105	GBM-06-6389-TP	p.G34R	C	ATGGCTTTTCCGTTTGAGTCA	NM_198085	NP_932351	122342705	Q8N7C7	RN148_HUMAN	0			1	317	-	T	T			Missense_Mutation	34						
RNF151	146310	broad.mit.edu	GRCh37	16	2018613	2018614	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C			TCGA-06-0195-01	TCGA-06-0195-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000569714.1:c.430dup	p.Leu144ProfsTer55	p.L144Pfs*55	ENST00000569714	NM_174903.4	142	tgc/tgCc	0			1			C	C/CX	uc002cnt.1	protein_coding	YES	CCDS58405.1			425-426/738										0	c.(424-426)TGCfs			Pfam_domain:PF02176,PROSITE_profiles:PS50145,hmmpanther:PTHR15315,hmmpanther:PTHR15315:SF1,Superfamily_domains:SSF49599	ring finger protein 151				ENSP00000456566		4-Apr										4-Apr	.		ENST00000569714	Transcript			cell differentiation|spermatogenesis	cytoplasm|nucleus	ubiquitin-protein ligase activity|zinc ion binding	ENSG00000179580	g.chr16:2018613_2018614insC	23235	5		HIGH								--	--	1																																				1			p.C142fs	NM_174903	NP_777563				RN151_HUMAN	RNF151	HGNC	Q2KHN1	RN151_HUMAN					4	433_434	+			UPI00001FFB20	142			TRAF-type.		insertion	RNF151,frameshift_variant,p.Leu144ProfsTer55,ENST00000569714,NM_174903.4;RNF151,frameshift_variant,p.Leu143ProfsTer55,ENST00000321392,;RNF151,3_prime_UTR_variant,,ENST00000569210,;TBL3,upstream_gene_variant,,ENST00000568546,NM_006453.2;RPS2,upstream_gene_variant,,ENST00000529806,;RPS2,upstream_gene_variant,,ENST00000343262,NM_002952.3;RPS2,upstream_gene_variant,,ENST00000526522,;RPS2,upstream_gene_variant,,ENST00000530225,;RPS2,upstream_gene_variant,,ENST00000527302,;RPS2,upstream_gene_variant,,ENST00000533186,;RPS2,upstream_gene_variant,,ENST00000563194,;SNHG9,downstream_gene_variant,,ENST00000564014,;SNHG9,downstream_gene_variant,,ENST00000531523,;SNHG9,downstream_gene_variant,,ENST00000459373,NR_003020.1;TBL3,upstream_gene_variant,,ENST00000569628,;RPS2,upstream_gene_variant,,ENST00000531065,;RPS2,upstream_gene_variant,,ENST00000527871,;RPS2,upstream_gene_variant,,ENST00000533161,;RPS2,upstream_gene_variant,,ENST00000533872,;RPS2,upstream_gene_variant,,ENST00000527109,;RPS2,upstream_gene_variant,,ENST00000532746,;RPS2,upstream_gene_variant,,ENST00000527826,;RPS2,upstream_gene_variant,,ENST00000534461,;RPS2,upstream_gene_variant,,ENST00000526908,;TBL3,upstream_gene_variant,,ENST00000561907,;AC005363.9,upstream_gene_variant,,ENST00000530779,;	uc002cnt.1	c.425_426insC	433-434/796	5	5			c.425_426insC						16	INS	c.(424-426)TGCfs	47	47				0	Broad	ring finger protein 151			2018614		0.728	ENSG00000179580	13234	g.chr16:2018613_2018614insC	cell differentiation|spermatogenesis	cytoplasm|nucleus	ubiquitin-protein ligase activity|zinc ion binding																				0.33	1	0	0	1	1	0	0	0	0	--	--		0	C				45	GBM-06-0195-TP	p.C142fs	-	CAGCAGCGCTGCCCCCTGGGCT	NM_174903	NP_777563	2018613	Q2KHN1	RN151_HUMAN	0			4	433_434	+	C	C			Frame_Shift_Ins	142			TRAF-type.			
RNF152	220441	broad.mit.edu	GRCh37	18	59483671	59483672	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	-			TCGA-06-2565-01	TCGA-06-2565-01	AG	AG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312828.3:c.25_26del	p.Leu9AlafsTer129	p.L9Afs*129	ENST00000312828	NM_173557.2	9	CTg/g	0			1			-	L/X	uc002lih.1	protein_coding	YES	CCDS11978.1			25-26/612									breast(1)	1	c.(25-27)CTGfs			Gene3D:3.30.40.10,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF205,Superfamily_domains:SSF57850	ring finger protein 152				ENSP00000316628		2-Feb									COSM2153001	2-Feb	.		ENST00000312828	Transcript			apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	ENSG00000176641	g.chr18:59483671_59483672delAG	26811			HIGH								--	--	1																																			1	1			p.L9fs	NM_173557	NP_775828			1	RN152_HUMAN	RNF152	HGNC	Q8N8N0	RN152_HUMAN			K7EMG3_HUMAN		2	437_438	-		Colorectal(73;0.186)	UPI000006D093	9					deletion	RNF152,frameshift_variant,p.Leu9AlafsTer129,ENST00000312828,NM_173557.2;RNF152,frameshift_variant,p.Leu9AlafsTer?,ENST00000591306,;	uc002lih.1	c.25_26delCT	1125-1126/9501	5	5			c.25_26delCT						18	DEL	c.(25-27)CTGfs	56	56			breast(1)	1	Broad	ring finger protein 152			59483672		0.594	ENSG00000176641	13235	g.chr18:59483671_59483672delAG	apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding																				0.24	1	1	0	1	0	0	0	0	0	--	--		0	-				88	GBM-06-2565-TP	p.L9fs	AG	ACATTCCAGCAGAGAGTCCTGG	NM_173557	NP_775828	59483671	Q8N8N0	RN152_HUMAN	0			2	437_438	-	-	-		Colorectal(73;0.186)	Frame_Shift_Del	9						
RNF157	0	broad.mit.edu	GRCh37	17	74157723	74157723	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01	TCGA-12-1597-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269391.6:c.958C>T	p.Arg320Trp	p.R320W	ENST00000269391	NM_052916.2	320	Cgg/Tgg	0			1			A	R/W	uc002jqz.2	protein_coding	YES	CCDS32740.1			958/2040									ovary(1)	1	c.(958-960)CGG>TGG			Gene3D:3.30.40.10,Pfam_domain:PF13920,hmmpanther:PTHR22996,hmmpanther:PTHR22996:SF1,Superfamily_domains:SSF57850	ring finger protein 157				ENSP00000269391		19-Nov	2.47E-05		0.000173			1.50E-05			rs747444288,COSM3403232,COSM3403231	19-Nov	.		ENST00000269391	Transcript					zinc ion binding	ENSG00000141576	g.chr17:74157723G>A	29402			MODERATE		2.44	medium	getma.org/?cm=msa&ty=f&p=RN157_HUMAN&rb=273&re=322&var=R320W	getma.org/pdb.php?prot=RN157_HUMAN&from=273&to=322&var=R320W	getma.org/?cm=var&var=hg19,17,74157723,G,A&fts=all	R320W	--	--	1																																		RNF157_uc002jra.2_Missense_Mutation_p.R320W	0,1,1	1		probably_damaging(0.995)	p.R320W	NM_052916	NP_443148		deleterious(0)	0,1,1	RN157_HUMAN	RNF157	HGNC	Q96PX1	RN157_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)				11	1027	-			UPI00001C1FDD	320					SNV	RNF157,missense_variant,p.Arg320Trp,ENST00000269391,NM_052916.2;RNF157,missense_variant,p.Arg320Trp,ENST00000319945,;RNF157,downstream_gene_variant,,ENST00000591615,;RNF157,non_coding_transcript_exon_variant,,ENST00000593155,;RNF157,upstream_gene_variant,,ENST00000592869,;	uc002jqz.2	c.958C>T	1091/4955	2	2			c.958C>T						17	SNP	c.(958-960)CGG>TGG	32	32			ovary(1)	1	Broad	ring finger protein 157			74157723		0.507	ENSG00000141576	13236	g.chr17:74157723G>A			zinc ion binding	GBM(186;507 2120 27388 27773 52994)			GBM(186;507 2120 27388 27773 52994)			64.318489	KEEP	11	12	-1	31	27	11	12	-1	67.491304	31	27	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	A			RNF157_uc002jra.2_Missense_Mutation_p.R320W	124	GBM-12-1597-TP	p.R320W	G	AGCAGTGCCCGGAAGGCTGTG	NM_052916	NP_443148	74157723	Q96PX1	RN157_HUMAN	0	LUSC - Lung squamous cell carcinoma(166;0.187)		11	1027	-	A	A			Missense_Mutation	320						
RNF165	494470	broad.mit.edu	GRCh37	18	44036518	44036518	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269439.7:c.960C>T	p.Cys320=	p.C320=	ENST00000269439	NM_152470.2	320	tgC/tgT	0			1			T	C	uc002lcb.1	protein_coding	YES	CCDS32823.1			960/1041										0	c.(958-960)TGC>TGT			Gene3D:3.30.40.10,Pfam_domain:PF13639,PROSITE_profiles:PS50089,hmmpanther:PTHR13644,hmmpanther:PTHR13644:SF4,SMART_domains:SM00184,SMART_domains:SM00744,Superfamily_domains:SSF57850	ring finger protein 165				ENSP00000269439		8-Aug									COSM2877813	8-Aug	.		ENST00000269439	Transcript					zinc ion binding	ENSG00000141622	g.chr18:44036518C>T	31696			LOW								--	--	1																																		RNF165_uc002lby.1_Silent_p.C253C|RNF165_uc010dnn.1_Silent_p.C116C	1	1			p.C320C	NM_152470	NP_689683			1	RN165_HUMAN	RNF165	HGNC	Q6ZSG1	RN165_HUMAN		READ - Rectum adenocarcinoma(1;0.0873)	K7EQ96_HUMAN		8	1011	+			UPI00001C0E38	320			RING-type; atypical.		SNV	RNF165,synonymous_variant,p.=,ENST00000269439,NM_152470.2;RNF165,synonymous_variant,p.=,ENST00000543885,NM_001256758.1;RNF165,3_prime_UTR_variant,,ENST00000586604,;RNF165,downstream_gene_variant,,ENST00000592777,;	uc002lcb.1	c.960C>T	1011/7596	1	1			c.960C>T						18	SNP	c.(958-960)TGC>TGT	6	6				0	Broad	ring finger protein 165			44036518		0.587	ENSG00000141622	13238	g.chr18:44036518C>T			zinc ion binding							44.057834	KEEP	14	19	-1	107	125	14	19	-1	74.067597	107	125	0.134199	1	0	0	0	0	0	0	1	0	--	--		0	T			RNF165_uc002lby.1_Silent_p.C253C|RNF165_uc010dnn.1_Silent_p.C116C	102	GBM-06-5858-TP	p.C320C	C	ACCAACTGTGCGTGGACCAGT	NM_152470	NP_689683	44036518	Q6ZSG1	RN165_HUMAN	0		READ - Rectum adenocarcinoma(1;0.0873)	8	1011	+	T	T			Silent	320			RING-type; atypical.			
RNF168	0	broad.mit.edu	GRCh37	3	196230195	196230195	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T			TCGA-27-2526-01	TCGA-27-2526-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318037.3:c.-151G>A		*51*	ENST00000318037	NM_152617.3			0			1			T		uc003fwq.2	protein_coding	YES	CCDS3317.1			-/1716										0	c.(-152--148)ACGTG>ACATG				ring finger protein 168				ENSP00000320898		6-Jan										6-Jan	.		ENST00000318037	Transcript	1		double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000163961	g.chr3:196230195C>T	26661			MODIFIER								--	--	1																																		RNF168_uc010iah.2_Translation_Start_Site		1				NM_152617	NP_689830				RN168_HUMAN	RNF168	HGNC	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)			1	388	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		UPI00000741D1						SNV	RNF168,5_prime_UTR_variant,,ENST00000318037,NM_152617.3;SMCO1,downstream_gene_variant,,ENST00000397537,NM_001077657.1;RNF168,5_prime_UTR_variant,,ENST00000437070,;SMCO1,downstream_gene_variant,,ENST00000452776,;	uc003fwq.2	c.-150G>A	445/5347	2	2			c.-150G>A						3	SNP	c.(-152--148)ACGTG>ACATG	24	24				0	Broad	ring finger protein 168			196230195		0.493	ENSG00000163961	13241	g.chr3:196230195C>T	double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding							13.608118	KEEP	0	4	-1	0	1	0	4	-1	14.021313	0	1	0.8	1	0	0	0	0	0	0	0	0	--	--		0	T			RNF168_uc010iah.2_Translation_Start_Site	203	GBM-27-2526-TP		C	GCATCCAACACGTCTTGAAGC	NM_152617	NP_689830	196230195	Q8IYW5	RN168_HUMAN	0	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	1	388	-	T	T	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Translation_Start_Site							
RNF168	0	broad.mit.edu	GRCh37	3	196229875	196229876	+	frameshift_variant	Frame_Shift_Del	DEL	CG	CG	-			TCGA-28-5209-01	TCGA-28-5209-01	CG	CG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318037.3:c.169_170delCG	p.Arg57GlyfsTer34	p.R57Gfs*34	ENST00000318037	NM_152617.3	57	CGg/g	0			1			-	R/X	uc003fwq.2	protein_coding	YES	CCDS3317.1			169-170/1716										0	c.(169-171)CGGfs			Gene3D:3.30.40.10,hmmpanther:PTHR23328,hmmpanther:PTHR23328:SF1,Superfamily_domains:SSF57850	ring finger protein 168				ENSP00000320898		6-Jan										6-Jan	.		ENST00000318037	Transcript	1		double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000163961	g.chr3:196229875_196229876delCG	26661			HIGH								--	--	1																																		RNF168_uc010iah.2_5'UTR		1			p.R57fs	NM_152617	NP_689830				RN168_HUMAN	RNF168	HGNC	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)			1	707_708	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		UPI00000741D1	57					deletion	RNF168,frameshift_variant,p.Arg57GlyfsTer34,ENST00000318037,NM_152617.3;SMCO1,downstream_gene_variant,,ENST00000397537,NM_001077657.1;RNF168,frameshift_variant,p.Arg57GlyfsTer34,ENST00000437070,;SMCO1,downstream_gene_variant,,ENST00000452776,;	uc003fwq.2	c.169_170delCG	764-765/5347	5	5			c.169_170delCG						3	DEL	c.(169-171)CGGfs	46	46				0	Broad	ring finger protein 168			196229876		0.545	ENSG00000163961	13241	g.chr3:196229875_196229876delCG	double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding																				0.27	1	1	0	1	0	0	0	0	0	--	--		0	-			RNF168_uc010iah.2_5'UTR	218	GBM-28-5209-TP	p.R57fs	CG	CGACGATACCCGGCGGCGACAG	NM_152617	NP_689830	196229875	Q8IYW5	RN168_HUMAN	0	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	1	707_708	-	-	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Frame_Shift_Del	57						
RNF168	0	broad.mit.edu	GRCh37	3	196214417	196214417	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-32-1986-01	TCGA-32-1986-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318037.3:c.411A>C	p.Glu137Asp	p.E137D	ENST00000318037	NM_152617.3	137	gaA/gaC	0			1			G	E/D	uc003fwq.2	protein_coding	YES	CCDS3317.1			411/1716										0	c.(409-411)GAA>GAC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23328,hmmpanther:PTHR23328:SF1,Low_complexity_(Seg):seg	ring finger protein 168				ENSP00000320898		6-Mar									COSM3408550	6-Mar	.		ENST00000318037	Transcript	1		double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000163961	g.chr3:196214417T>G	26661			MODERATE		2.38	medium	getma.org/?cm=msa&ty=f&p=RN168_HUMAN&rb=101&re=570&var=E137D	NA	getma.org/?cm=var&var=hg19,3,196214417,T,G&fts=all	E137D	--	--	1																																		RNF168_uc010iah.2_5'UTR	1	1		probably_damaging(0.927)	p.E137D	NM_152617	NP_689830		deleterious(0.01)	1	RN168_HUMAN	RNF168	HGNC	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)			3	949	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		UPI00000741D1	137			Glu-rich.		SNV	RNF168,missense_variant,p.Glu137Asp,ENST00000318037,NM_152617.3;RNF168,synonymous_variant,p.=,ENST00000437070,;	uc003fwq.2	c.411A>C	1006/5347	4	4			c.411A>C						3	SNP	c.(409-411)GAA>GAC	17	17				0	Broad	ring finger protein 168			196214417		0.433	ENSG00000163961	13241	g.chr3:196214417T>G	double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding							177.835105	KEEP	28	40	-1	84	109	28	40	-1	189.88575	84	109	0.269076	1	0	0	0	0	1	0	0	0	--	--		0	G			RNF168_uc010iah.2_5'UTR	233	GBM-32-1986-TP	p.E137D	T	CTTTGTTTTCTTCTTCCTCGC	NM_152617	NP_689830	196214417	Q8IYW5	RN168_HUMAN	0	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	3	949	-	G	G	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Missense_Mutation	137			Glu-rich.			
RNF169	254225	broad.mit.edu	GRCh37	11	74546969	74546969	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0875-01	TCGA-06-0875-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299563.4:c.1321C>T	p.Arg441Trp	p.R441W	ENST00000299563	NM_001098638.1	441	Cgg/Tgg	0			1			T	R/W	uc001ovl.3	protein_coding	YES	CCDS41691.1			1321/2127									ovary(1)	1	c.(1321-1323)CGG>TGG			hmmpanther:PTHR23328,hmmpanther:PTHR23328:SF2	ring finger protein 169				ENSP00000299563		6-Jun									COSM2152037	6-Jun	.		ENST00000299563	Transcript					zinc ion binding	ENSG00000166439	g.chr11:74546969C>T	26961			MODERATE		2.42	medium	getma.org/?cm=msa&ty=f&p=RN169_HUMAN&rb=119&re=706&var=R441W	NA	getma.org/?cm=var&var=hg19,11,74546969,C,T&fts=all	R441W	--	--	1																																		XRRA1_uc001ovm.2_Intron	1	1		probably_damaging(0.999)	p.R441W	NM_001098638	NP_001092108		deleterious(0)	1	RN169_HUMAN	RNF169	HGNC	Q8NCN4	RN169_HUMAN					6	1334	+			UPI00001C1F15	441					SNV	RNF169,missense_variant,p.Arg441Trp,ENST00000299563,NM_001098638.1;XRRA1,downstream_gene_variant,,ENST00000340360,NM_182969.2;XRRA1,downstream_gene_variant,,ENST00000321448,NM_001270381.1;RNF169,upstream_gene_variant,,ENST00000527301,;XRRA1,intron_variant,,ENST00000530562,;	uc001ovl.3	c.1321C>T	1334/7823	1	1			c.1321C>T						11	SNP	c.(1321-1323)CGG>TGG	8	8			ovary(1)	1	Broad	ring finger protein 169			74546969		0.478	ENSG00000166439	13242	g.chr11:74546969C>T			zinc ion binding							270.932323	KEEP	45	56	-1	66	78	45	56	-1	272.846413	66	78	0.402597	1	0	0	0	0	1	0	0	0	--	--		0	T			XRRA1_uc001ovm.2_Intron	71	GBM-06-0875-TP	p.R441W	C	CTTTCAGGAGCGGCAGATCAA	NM_001098638	NP_001092108	74546969	Q8NCN4	RN169_HUMAN	0			6	1334	+	T	T			Missense_Mutation	441						
RNF17	56163	broad.mit.edu	GRCh37	13	25367336	25367336	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0168-01	TCGA-06-0168-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255324.5:c.1092T>C	p.Pro364=	p.P364=	ENST00000255324	NM_031277.2	364	ccT/ccC	0			1			C	P	uc001upr.2	protein_coding	YES	CCDS9308.2			1092/4872									ovary(1)|skin(1)	2	c.(1090-1092)CCT>CCC			hmmpanther:PTHR16442	ring finger protein 17				ENSP00000255324		Oct-36									COSM3399289,COSM3399288,COSM3399290	Oct-36	.		ENST00000255324	Transcript			multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	ENSG00000132972	g.chr13:25367336T>C	10060			LOW								--	--	1																																		RNF17_uc010tdd.1_Silent_p.P223P|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Silent_p.P364P|RNF17_uc001ups.2_Silent_p.P303P|RNF17_uc001upq.1_Silent_p.P364P	1,1,1	1			p.P364P	NM_031277	NP_112567			1,1,1	RNF17_HUMAN	RNF17	HGNC	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)			10	1133	+		Lung SC(185;0.0225)|Breast(139;0.077)	UPI00001FC8BA	364					SNV	RNF17,synonymous_variant,p.=,ENST00000255324,NM_031277.2,NM_001184993.1;RNF17,synonymous_variant,p.=,ENST00000381921,;RNF17,synonymous_variant,p.=,ENST00000255325,;RNF17,non_coding_transcript_exon_variant,,ENST00000255326,;	uc001upr.2	c.1092T>C	1144/5119	3	3			c.1092T>C						13	SNP	c.(1090-1092)CCT>CCC	11	11			ovary(1)|skin(1)	2	Broad	ring finger protein 17			25367336		0.428	ENSG00000132972	13243	g.chr13:25367336T>C	multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding							-48.951474	KEEP	2	1	-1	113	103	2	1	-1	6.524933	113	103	0.014493	1	0	0	0	0	0	0	1	0	--	--		0	C			RNF17_uc010tdd.1_Silent_p.P223P|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Silent_p.P364P|RNF17_uc001ups.2_Silent_p.P303P|RNF17_uc001upq.1_Silent_p.P364P	33	GBM-06-0168-TP	p.P364P	T	CTTTGCAACCTGAGACAAATG	NM_031277	NP_112567	25367336	Q9BXT8	RNF17_HUMAN	0		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	10	1133	+	C	C		Lung SC(185;0.0225)|Breast(139;0.077)	Silent	364						
RNF17	0	broad.mit.edu	GRCh37	13	25425654	25425654	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01	TCGA-12-3652-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255324.5:c.3265C>T	p.Arg1089Cys	p.R1089C	ENST00000255324	NM_031277.2	1089	Cgt/Tgt	0			1			T	R/C	uc001upr.2	protein_coding	YES	CCDS9308.2			3265/4872									ovary(1)|skin(1)	2	c.(3265-3267)CGT>TGT			hmmpanther:PTHR16442	ring finger protein 17				ENSP00000255324		24/36	8.24E-06			0.000116					rs752488820,COSM3399294	24/36	.		ENST00000255324	Transcript			multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	ENSG00000132972	g.chr13:25425654C>T	10060			MODERATE		0.92	low	getma.org/?cm=msa&ty=f&p=RNF17_HUMAN&rb=1033&re=1176&var=R1089C	NA	getma.org/?cm=var&var=hg19,13,25425654,C,T&fts=all	R1089C	--	--	1																																		RNF17_uc010tdd.1_Missense_Mutation_p.R948C|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.R1085C|RNF17_uc001ups.2_Missense_Mutation_p.R1028C|RNF17_uc010aac.2_Missense_Mutation_p.R287C|RNF17_uc010aad.2_Missense_Mutation_p.R141C	0,1	1		benign(0.336)	p.R1089C	NM_031277	NP_112567		tolerated(0.18)	0,1	RNF17_HUMAN	RNF17	HGNC	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)			24	3306	+		Lung SC(185;0.0225)|Breast(139;0.077)	UPI00001FC8BA	1089					SNV	RNF17,missense_variant,p.Arg1089Cys,ENST00000255324,NM_031277.2,NM_001184993.1;RNF17,missense_variant,p.Arg1089Cys,ENST00000381921,;RNF17,missense_variant,p.Arg413Cys,ENST00000418120,;RNF17,missense_variant,p.Arg141Cys,ENST00000339524,;	uc001upr.2	c.3265C>T	3317/5119	2	2			c.3265C>T						13	SNP	c.(3265-3267)CGT>TGT	26	26			ovary(1)|skin(1)	2	Broad	ring finger protein 17			25425654		0.333	ENSG00000132972	13243	g.chr13:25425654C>T	multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding							93.817127	KEEP	22	11	-1	4	5	22	11	-1	96.040106	4	5	0.756757	1	0	0	0	0	1	0	0	0	--	--		0	T			RNF17_uc010tdd.1_Missense_Mutation_p.R948C|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.R1085C|RNF17_uc001ups.2_Missense_Mutation_p.R1028C|RNF17_uc010aac.2_Missense_Mutation_p.R287C|RNF17_uc010aad.2_Missense_Mutation_p.R141C	127	GBM-12-3652-TP	p.R1089C	C	AAAAGGAGAGCGTGTTGATGT	NM_031277	NP_112567	25425654	Q9BXT8	RNF17_HUMAN	0		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	24	3306	+	T	T		Lung SC(185;0.0225)|Breast(139;0.077)	Missense_Mutation	1089						
RNF17	0	broad.mit.edu	GRCh37	13	25363875	25363875	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255324.5:c.900C>A	p.Asn300Lys	p.N300K	ENST00000255324	NM_031277.2	300	aaC/aaA	0			1			A	N/K	uc001upr.2	protein_coding	YES	CCDS9308.2			900/4872									ovary(1)|skin(1)	2	c.(898-900)AAC>AAA			hmmpanther:PTHR16442	ring finger protein 17				ENSP00000255324		Sep-36									COSM3399286,COSM3399285,COSM3399287	Sep-36	.		ENST00000255324	Transcript			multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	ENSG00000132972	g.chr13:25363875C>A	10060			MODERATE		0.145	neutral	getma.org/?cm=msa&ty=f&p=RNF17_HUMAN&rb=201&re=400&var=N300K	NA	getma.org/?cm=var&var=hg19,13,25363875,C,A&fts=all	N300K	--	--	1																																		RNF17_uc010tdd.1_Missense_Mutation_p.N159K|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.N300K|RNF17_uc001ups.2_Missense_Mutation_p.N239K|RNF17_uc001upq.1_Missense_Mutation_p.N300K	1,1,1	1		benign(0.001)	p.N300K	NM_031277	NP_112567		tolerated(1)	1,1,1	RNF17_HUMAN	RNF17	HGNC	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)			9	941	+		Lung SC(185;0.0225)|Breast(139;0.077)	UPI00001FC8BA	300					SNV	RNF17,missense_variant,p.Asn300Lys,ENST00000255324,NM_031277.2,NM_001184993.1;RNF17,missense_variant,p.Asn300Lys,ENST00000381921,;RNF17,missense_variant,p.Asn300Lys,ENST00000255325,;RNF17,non_coding_transcript_exon_variant,,ENST00000255326,;	uc001upr.2	c.900C>A	952/5119	1	1			c.900C>A						13	SNP	c.(898-900)AAC>AAA	62	62			ovary(1)|skin(1)	2	Broad	ring finger protein 17			25363875		0.308	ENSG00000132972	13243	g.chr13:25363875C>A	multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding							17.018093	KEEP	11	7	0.388888889	86	65	11	7	0.388888889	37.211581	86	65	0.111111	1	0	0	0	0	1	0	0	0	--	--		0	A			RNF17_uc010tdd.1_Missense_Mutation_p.N159K|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.N300K|RNF17_uc001ups.2_Missense_Mutation_p.N239K|RNF17_uc001upq.1_Missense_Mutation_p.N300K	160	GBM-19-1790-TP	p.N300K	C	GTATGTTCAACAATATGGGAA	NM_031277	NP_112567	25363875	Q9BXT8	RNF17_HUMAN	0		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	9	941	+	A	A		Lung SC(185;0.0225)|Breast(139;0.077)	Missense_Mutation	300						
RNF17	0	broad.mit.edu	GRCh37	13	25419167	25419167	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-19-5955-01	TCGA-19-5955-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255324.5:c.3051T>A	p.Asn1017Lys	p.N1017K	ENST00000255324	NM_031277.2	1017	aaT/aaA	0			1			A	N/K	uc001upr.2	protein_coding	YES	CCDS9308.2			3051/4872									ovary(1)|skin(1)	2	c.(3049-3051)AAT>AAA			PROSITE_profiles:PS50304,hmmpanther:PTHR16442,Gene3D:2.30.30.140,Pfam_domain:PF00567,SMART_domains:SM00333,Superfamily_domains:SSF63748	ring finger protein 17				ENSP00000255324		22/36									COSM2156791	22/36	.		ENST00000255324	Transcript			multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	ENSG00000132972	g.chr13:25419167T>A	10060			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=RNF17_HUMAN&rb=912&re=1032&var=N1017K	getma.org/pdb.php?prot=RNF17_HUMAN&from=912&to=1032&var=N1017K	getma.org/?cm=var&var=hg19,13,25419167,T,A&fts=all	N1017K	--	--	1																																		RNF17_uc010tdd.1_Missense_Mutation_p.N876K|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.N1017K|RNF17_uc001ups.2_Missense_Mutation_p.N956K|RNF17_uc010aac.2_Missense_Mutation_p.N215K|RNF17_uc010aad.2_Missense_Mutation_p.N69K	1	1		probably_damaging(0.966)	p.N1017K	NM_031277	NP_112567		tolerated(0.08)	1	RNF17_HUMAN	RNF17	HGNC	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)			22	3092	+		Lung SC(185;0.0225)|Breast(139;0.077)	UPI00001FC8BA	1017			Tudor 2.		SNV	RNF17,missense_variant,p.Asn1017Lys,ENST00000255324,NM_031277.2,NM_001184993.1;RNF17,missense_variant,p.Asn1017Lys,ENST00000381921,;RNF17,missense_variant,p.Asn341Lys,ENST00000418120,;RNF17,missense_variant,p.Asn69Lys,ENST00000339524,;	uc001upr.2	c.3051T>A	3103/5119	1	1			c.3051T>A						13	SNP	c.(3049-3051)AAT>AAA	59	59			ovary(1)|skin(1)	2	Broad	ring finger protein 17			25419167		0.308	ENSG00000132972	13243	g.chr13:25419167T>A	multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding							53.904329	KEEP	13	12	-1	52	39	13	12	-1	61.50545	52	39	0.215686	1	0	0	0	0	1	0	0	0	--	--		0	A			RNF17_uc010tdd.1_Missense_Mutation_p.N876K|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.N1017K|RNF17_uc001ups.2_Missense_Mutation_p.N956K|RNF17_uc010aac.2_Missense_Mutation_p.N215K|RNF17_uc010aad.2_Missense_Mutation_p.N69K	175	GBM-19-5955-TP	p.N1017K	T	TTGAAGAAAATCTAAAGACAA	NM_031277	NP_112567	25419167	Q9BXT8	RNF17_HUMAN	0		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	22	3092	+	A	A		Lung SC(185;0.0225)|Breast(139;0.077)	Missense_Mutation	1017			Tudor 2.			
RNF17	0	broad.mit.edu	GRCh37	13	25373533	25373533	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01	TCGA-26-6174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255324.5:c.1400G>A	p.Gly467Asp	p.G467D	ENST00000255324	NM_031277.2	467	gGt/gAt	0			1			A	G/D	uc001upr.2	protein_coding	YES	CCDS9308.2			1400/4872									ovary(1)|skin(1)	2	c.(1399-1401)GGT>GAT			hmmpanther:PTHR16442,Gene3D:2.30.30.140,Pfam_domain:PF00567,Superfamily_domains:SSF63748	ring finger protein 17				ENSP00000255324		Dec-36									COSM3399292,COSM3399291	Dec-36	.		ENST00000255324	Transcript			multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	ENSG00000132972	g.chr13:25373533G>A	10060			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=RNF17_HUMAN&rb=411&re=532&var=G467D	NA	getma.org/?cm=var&var=hg19,13,25373533,G,A&fts=all	G467D	--	--	1																																		RNF17_uc010tdd.1_Missense_Mutation_p.G326D|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.G467D|RNF17_uc001ups.2_Missense_Mutation_p.G406D	1,1	1		probably_damaging(0.998)	p.G467D	NM_031277	NP_112567		deleterious(0)	1,1	RNF17_HUMAN	RNF17	HGNC	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)			12	1441	+		Lung SC(185;0.0225)|Breast(139;0.077)	UPI00001FC8BA	467					SNV	RNF17,missense_variant,p.Gly467Asp,ENST00000255324,NM_031277.2,NM_001184993.1;RNF17,missense_variant,p.Gly467Asp,ENST00000381921,;RNF17,missense_variant,p.Gly467Asp,ENST00000255325,;RNF17,upstream_gene_variant,,ENST00000418120,;RNF17,downstream_gene_variant,,ENST00000255326,;	uc001upr.2	c.1400G>A	1452/5119	1	1			c.1400G>A						13	SNP	c.(1399-1401)GGT>GAT	51	51			ovary(1)|skin(1)	2	Broad	ring finger protein 17			25373533		0.328	ENSG00000132972	13243	g.chr13:25373533G>A	multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding							29.660047	KEEP	7	14	-1	60	68	7	14	-1	45.85335	60	68	0.139535	1	0	0	0	0	1	0	0	0	--	--		0	A			RNF17_uc010tdd.1_Missense_Mutation_p.G326D|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.G467D|RNF17_uc001ups.2_Missense_Mutation_p.G406D	188	GBM-26-6174-TP	p.G467D	G	CATTATTTAGGTGCAAGAATA	NM_031277	NP_112567	25373533	Q9BXT8	RNF17_HUMAN	0		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	12	1441	+	A	A		Lung SC(185;0.0225)|Breast(139;0.077)	Missense_Mutation	467						
RNF17	56163		GRCh37	13	25417989	25417989	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000255324.5:c.2711C>T	p.Ser904Phe	p.S904F	ENST00000255324	NM_031277.2	904	tCt/tTt	0																																																																																																																																																																																																																																												
RNF181	51255	broad.mit.edu	GRCh37	2	85824255	85824255	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-2563-01	TCGA-06-2563-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306368.4:c.356A>G	p.Glu119Gly	p.E119G	ENST00000306368	NM_016494.3	119	gAg/gGg	0			1			G	E/G	uc002spv.1	protein_coding	YES	CCDS1981.1			356/462										0	c.(355-357)GAG>GGG			hmmpanther:PTHR22763,Gene3D:3.30.40.10,Superfamily_domains:SSF57850	ring finger protein 181				ENSP00000306906		5-Apr									COSM3408013	5-Apr	.		ENST00000306368	Transcript					ligase activity|zinc ion binding	ENSG00000168894	g.chr2:85824255A>G	28037			MODERATE		3.09	medium	getma.org/?cm=msa&ty=f&p=RN181_HUMAN&rb=74&re=119&var=E119G	getma.org/pdb.php?prot=RN181_HUMAN&from=74&to=119&var=E119G	getma.org/?cm=var&var=hg19,2,85824255,A,G&fts=all	E119G	--	--	1																																			1	1		probably_damaging(0.998)	p.E119G	NM_016494	NP_057578		deleterious(0)	1	RN181_HUMAN	RNF181	HGNC	Q9P0P0	RN181_HUMAN					4	406	+			UPI0000073EAA	119					SNV	RNF181,missense_variant,p.Glu119Gly,ENST00000441634,;RNF181,missense_variant,p.Glu119Gly,ENST00000306368,NM_016494.3;RNF181,missense_variant,p.Ser116Gly,ENST00000456023,;TMEM150A,downstream_gene_variant,,ENST00000409668,;TMEM150A,downstream_gene_variant,,ENST00000334462,NM_001031738.2;TMEM150A,downstream_gene_variant,,ENST00000306353,;VAMP5,downstream_gene_variant,,ENST00000306384,NM_006634.2;TMEM150A,downstream_gene_variant,,ENST00000425160,;RNF181,downstream_gene_variant,,ENST00000414390,;RNF181,3_prime_UTR_variant,,ENST00000443647,;TMEM150A,downstream_gene_variant,,ENST00000431593,;TMEM150A,downstream_gene_variant,,ENST00000444380,;TMEM150A,downstream_gene_variant,,ENST00000417791,;TMEM150A,downstream_gene_variant,,ENST00000433956,;TMEM150A,downstream_gene_variant,,ENST00000422458,;TMEM150A,downstream_gene_variant,,ENST00000451147,;TMEM150A,downstream_gene_variant,,ENST00000463363,;RNF181,downstream_gene_variant,,ENST00000461845,;TMEM150A,downstream_gene_variant,,ENST00000455852,;VAMP5,downstream_gene_variant,,ENST00000462451,;	uc002spv.1	c.356A>G	386/569	4	4			c.356A>G						2	SNP	c.(355-357)GAG>GGG	30	30				0	Broad	ring finger protein 181			85824255		0.522	ENSG00000168894	13247	g.chr2:85824255A>G			ligase activity|zinc ion binding							-36.627613	KEEP	3	0	-1	102	90	3	0	-1	6.524252	102	90	0.018182	1	0	0	0	0	1	0	0	0	--	--		0	G				86	GBM-06-2563-TP	p.E119G	A	TGCCGCTATGAGCTGCCCACT	NM_016494	NP_057578	85824255	Q9P0P0	RN181_HUMAN	0			4	406	+	G	G			Missense_Mutation	119						
RNF19A	25897	broad.mit.edu	GRCh37	8	101273881	101273881	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01	TCGA-02-0047-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000519449.1:c.1571G>A	p.Arg524Gln	p.R524Q	ENST00000519449	NM_015435.4	524	cGa/cAa	0			1			T	R/Q	uc003yjj.1	protein_coding		CCDS6286.1			1571/2517									ovary(2)|central_nervous_system(1)|skin(1)	4	c.(1570-1572)CGA>CAA			hmmpanther:PTHR11685,hmmpanther:PTHR11685:SF111	ring finger protein 19				ENSP00000342667		10-Aug	1.65E-05					3.00E-05			rs768668517,COSM3412610	10-Aug	.		ENST00000341084	Transcript			microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	ENSG00000034677	g.chr8:101273881C>T	13432			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=RN19A_HUMAN&rb=348&re=836&var=R524Q	NA	getma.org/?cm=var&var=hg19,8,101273881,C,T&fts=all	R524Q	--	--	1																																		RNF19A_uc003yjk.1_Missense_Mutation_p.R524Q	0,1			benign(0.361)	p.R524Q	NM_015435	NP_056250		tolerated(0.13)	0,1	RN19A_HUMAN	RNF19A	HGNC	Q9NV58	RN19A_HUMAN	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		E7ETB2_HUMAN,E7EQV8_HUMAN,E7EQ63_HUMAN,A3KCU8_HUMAN		9	1888	-	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		UPI000013D5E6	524					SNV	RNF19A,missense_variant,p.Arg524Gln,ENST00000519449,NM_015435.4,NM_001280539.1;RNF19A,missense_variant,p.Arg524Gln,ENST00000341084,NM_183419.3;RNF19A,non_coding_transcript_exon_variant,,ENST00000523255,;RNF19A,intron_variant,,ENST00000523644,;SPAG1,downstream_gene_variant,,ENST00000519409,;RNF19A,downstream_gene_variant,,ENST00000520071,;RNF19A,upstream_gene_variant,,ENST00000520903,;	uc003yjj.1	c.1571G>A	2125/4285	2	2			c.1571G>A						8	SNP	c.(1570-1572)CGA>CAA	35	35			ovary(2)|central_nervous_system(1)|skin(1)	4	Broad	ring finger protein 19			101273881		0.532	ENSG00000034677	13252	g.chr8:101273881C>T	microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding							-5.253	KEEP	4	1	-1	50	58	4	1	-1	9.858471	50	58	0.064935	1	0	0	0	0	1	0	0	0	--	--		0	T			RNF19A_uc003yjk.1_Missense_Mutation_p.R524Q	3	GBM-02-0047-TP	p.R524Q	C	GGCTCCTATTCGATCCATGTG	NM_015435	NP_056250	101273881	Q9NV58	RN19A_HUMAN	0	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		9	1888	-	T	T	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Missense_Mutation	524						
RNF19B	0	broad.mit.edu	GRCh37	1	33408041	33408042	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	GC			TCGA-41-3915-01	TCGA-41-3915-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373456.7:c.1423_1424dupGC	p.Leu476ProfsTer15	p.L476Pfs*15	ENST00000373456	NM_153341.2	475	gcc/gcGCc	0			1			GC	A/AX	uc010oho.1	protein_coding	YES	CCDS372.2			1424-1425/2199										0	c.(1423-1425)GCCfs			hmmpanther:PTHR11685,hmmpanther:PTHR11685:SF109	ring finger protein 19B isoform a				ENSP00000362555		9-Jul										9-Jul	.		ENST00000373456	Transcript				integral to membrane	ligase activity|protein binding|zinc ion binding	ENSG00000116514	g.chr1:33408041_33408042insGC	26886			HIGH								--	--	1																																		RNF19B_uc001bwm.3_Frame_Shift_Ins_p.A474fs|RNF19B_uc010ohp.1_Frame_Shift_Ins_p.A474fs		1			p.A475fs	NM_153341	NP_699172				RN19B_HUMAN	RNF19B	HGNC	Q6ZMZ0	RN19B_HUMAN					7	1424_1425	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	UPI00015D777B	475					insertion	RNF19B,frameshift_variant,p.Leu475ProfsTer15,ENST00000356990,NM_001127361.1;RNF19B,frameshift_variant,p.Leu476ProfsTer15,ENST00000373456,NM_153341.2;RNF19B,frameshift_variant,p.Leu475ProfsTer15,ENST00000235150,;	uc010oho.1	c.1424_1425insGC	1424-1425/2560	5	5			c.1424_1425insGC						1	INS	c.(1423-1425)GCCfs	14	14				0	Broad	ring finger protein 19B isoform a			33408042		0.475	ENSG00000116514	13253	g.chr1:33408041_33408042insGC		integral to membrane	ligase activity|protein binding|zinc ion binding																				0.46	1	0	0	1	1	0	0	0	0	--	--		0	GC			RNF19B_uc001bwm.3_Frame_Shift_Ins_p.A474fs|RNF19B_uc010ohp.1_Frame_Shift_Ins_p.A474fs	256	GBM-41-3915-TP	p.A475fs	-	GATTCTTGAGGGCTCTCCAGGC	NM_153341	NP_699172	33408041	Q6ZMZ0	RN19B_HUMAN	0			7	1424_1425	-	GC	GC		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	Frame_Shift_Ins	475						
RNF2	6045	broad.mit.edu	GRCh37	1	185069006	185069006	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5411-01	TCGA-06-5411-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367510.3:c.821G>A	p.Ser274Asn	p.S274N	ENST00000367510	NM_007212.3	274	aGc/aAc	0		A:0	1	A:0		A	S/N	uc001grc.1	protein_coding	YES	CCDS1365.1			821/1011									breast(1)	1	c.(820-822)AGC>AAC			hmmpanther:PTHR10825,hmmpanther:PTHR10825:SF25	ring finger protein 2		A:0.002		ENSP00000356480	A:0	7-Jun	7.41E-05			0.00104					rs202081769,COSM3400093	7-Jun	common_variant		ENST00000367510	Transcript		A:0.0004	histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding	ENSG00000121481	g.chr1:185069006G>A	10061			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=RING2_HUMAN&rb=164&re=334&var=S274N	getma.org/pdb.php?prot=RING2_HUMAN&from=164&to=334&var=S274N	getma.org/?cm=var&var=hg19,1,185069006,G,A&fts=all	S274N	--	--	1																																		RNF2_uc001grd.1_Missense_Mutation_p.S202N|RNF2_uc001gre.1_RNA	0,1	1		benign(0.001)	p.S274N	NM_007212	NP_009143	A:0	tolerated(0.3)	0,1	RING2_HUMAN	RNF2	HGNC	Q99496	RING2_HUMAN		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)			6	1054	+		Breast(1374;0.000496)	UPI000007131D	274					SNV	RNF2,missense_variant,p.Ser274Asn,ENST00000367510,NM_007212.3;RNF2,missense_variant,p.Ser202Asn,ENST00000367509,;RNF2,downstream_gene_variant,,ENST00000453650,;	uc001grc.1	c.821G>A	1109/3606	2	2			c.821G>A						1	SNP	c.(820-822)AGC>AAC	28	28			breast(1)	1	Broad	ring finger protein 2			185069006		0.393	ENSG00000121481	13254	g.chr1:185069006G>A	histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding							-24.319556	KEEP	4	1	-1	67	73	4	1	-1	7.917221	67	73	0.030075	1	0	0	0	0	1	0	0	0	--	--		0	A			RNF2_uc001grd.1_Missense_Mutation_p.S202N|RNF2_uc001gre.1_RNA	94	GBM-06-5411-TP	p.S274N	G	GAACTTCGAAGCAAAGGTGAA	NM_007212	NP_009143	185069006	Q99496	RING2_HUMAN	0		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)	6	1054	+	A	A		Breast(1374;0.000496)	Missense_Mutation	274						
RNF207	388591	broad.mit.edu	GRCh37	1	6271141	6271141	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0132-01	TCGA-06-0132-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377939.4:c.1072C>T	p.Pro358Ser	p.P358S	ENST00000377939	NM_207396.2	358	Cca/Tca	0			1			T	P/S	uc001amg.2	protein_coding	YES	CCDS59.2			1072/1905										0	c.(1072-1074)CCA>TCA			hmmpanther:PTHR22635	ring finger protein 207				ENSP00000367173		18-Dec									COSM3400940	18-Dec	.		ENST00000377939	Transcript				intracellular	zinc ion binding	ENSG00000158286	g.chr1:6271141C>T	32947			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=RN207_HUMAN&rb=316&re=400&var=P358S	NA	getma.org/?cm=var&var=hg19,1,6271141,C,T&fts=all	P358S	--	--	1																																		RNF207_uc010nzp.1_RNA	1	1		benign(0.027)	p.P358S	NM_207396	NP_997279		tolerated(0.16)	1	RN207_HUMAN	RNF207	HGNC	Q6ZRF8	RN207_HUMAN		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)			12	1246	+	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	UPI0000F0A526	358					SNV	RNF207,missense_variant,p.Pro358Ser,ENST00000377939,NM_207396.2;RNF207,intron_variant,,ENST00000377948,;RPL22,upstream_gene_variant,,ENST00000465335,;RPL22,upstream_gene_variant,,ENST00000471204,;RNF207,non_coding_transcript_exon_variant,,ENST00000463453,;RNF207,upstream_gene_variant,,ENST00000483336,;RNF207,non_coding_transcript_exon_variant,,ENST00000492476,;RNF207,non_coding_transcript_exon_variant,,ENST00000496329,;RNF207,intron_variant,,ENST00000496676,;RNF207,downstream_gene_variant,,ENST00000466994,;RNF207,downstream_gene_variant,,ENST00000485539,;RNF207,downstream_gene_variant,,ENST00000484435,;	uc001amg.2	c.1072C>T	1199/3924	1	1			c.1072C>T						1	SNP	c.(1072-1074)CCA>TCA	11	11				0	Broad	ring finger protein 207			6271141		0.667	ENSG00000158286	13256	g.chr1:6271141C>T		intracellular	zinc ion binding							4.709548	KEEP	1	2	-1	17	15	1	2	-1	7.526674	17	15	0.136364	1	0	0	0	0	1	0	0	0	--	--		0	T			RNF207_uc010nzp.1_RNA	17	GBM-06-0132-TP	p.P358S	C	GCTGCTGGGGCCACGTCGGGT	NM_207396	NP_997279	6271141	Q6ZRF8	RN207_HUMAN	0		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	12	1246	+	T	T	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	Missense_Mutation	358						
RNF213	57674	broad.mit.edu	GRCh37	17	78349658	78349658	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-06-6390-01	TCGA-06-6390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000582970.1:c.13176del	p.Thr4393ArgfsTer8	p.T4393Rfs*8	ENST00000582970	NM_001256071.1	4391	caC/ca	0			1			-	H/X	uc002jyh.1	protein_coding	YES	CCDS58606.1			13173/15624									ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	c.(7390-7392)CACfs			hmmpanther:PTHR22605,hmmpanther:PTHR22605:SF5	ring finger protein 213				ENSP00000464087		51/68									COSM2153448,COSM2153449	51/68	.		ENST00000582970	Transcript	1					ENSG00000173821	g.chr17:78349658delC	14539	3		HIGH								--	--	1																																		uc002jyi.1_Intron|RNF213_uc010dhw.1_Frame_Shift_Del_p.H846fs	1,1	1			p.H2464fs	NM_020914	NP_065965			1,1	RN213_HUMAN	RNF213	HGNC	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		H3BLU6_HUMAN		26	7615	+	all_neural(118;0.0538)		UPI0001D3BDB1	Error:Variant_position_missing_in_Q9HCF4_after_alignment					deletion	RNF213,frameshift_variant,p.Thr4393ArgfsTer8,ENST00000582970,NM_001256071.1;RNF213,frameshift_variant,p.Thr4442ArgfsTer8,ENST00000508628,;RNF213,frameshift_variant,p.Thr2466ArgfsTer8,ENST00000336301,;RNF213,downstream_gene_variant,,ENST00000573038,;CTD-2047H16.4,intron_variant,,ENST00000575034,;CTD-2047H16.4,intron_variant,,ENST00000572151,;RNF213,non_coding_transcript_exon_variant,,ENST00000411702,;RNF213,non_coding_transcript_exon_variant,,ENST00000558116,;RNF213,non_coding_transcript_exon_variant,,ENST00000559864,;RNF213,upstream_gene_variant,,ENST00000572622,;RNF213,upstream_gene_variant,,ENST00000574909,;	uc002jyh.1	c.7392delC	13316/21055	5	5			c.7392delC						17	DEL	c.(7390-7392)CACfs	42	42			ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	Broad	ring finger protein 213			78349658		0.473	ENSG00000173821	13258	g.chr17:78349658delC																							0.34	1	1	0	1	0	0	0	0	0	--	--		0	-			uc002jyi.1_Intron|RNF213_uc010dhw.1_Frame_Shift_Del_p.H846fs	106	GBM-06-6390-TP	p.H2464fs	C	CAAGCCTCCACCCCACGCCAG	NM_020914	NP_065965	78349658	Q9HCF4	ALO17_HUMAN	0	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		26	7615	+	-	-	all_neural(118;0.0538)		Frame_Shift_Del	Error:Variant_position_missing_in_Q9HCF4_after_alignment						
RNF217	0	broad.mit.edu	GRCh37	6	125379096	125379096	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-0615-01	TCGA-12-0615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521654.2:c.1125C>T	p.Cys375=	p.C375=	ENST00000521654	NM_001286398.1	375	tgC/tgT	0			1			T	C	uc003pzs.2	protein_coding		CCDS69191.1			1125/1629										0	c.(247-249)TGC>TGT			hmmpanther:PTHR11685:SF103,hmmpanther:PTHR11685,Pfam_domain:PF01485,SMART_domains:SM00647,Superfamily_domains:SSF57850	ring finger protein 217				ENSP00000428698		6-Mar									COSM2153476,COSM3410568,COSM2153477	6-Mar	.		ENST00000521654	Transcript			protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	ENSG00000146373	g.chr6:125379096C>T	21487			LOW								--	--	1																																		RNF217_uc003pzr.2_Silent_p.C140C|RNF217_uc003pzt.2_RNA	1,1,1				p.C83C	NM_152553	NP_689766			1,1,1		RNF217	HGNC	Q8TC41	RN217_HUMAN	LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)	H7C5V4_HUMAN,H0YKH8_HUMAN,E5RFY6_HUMAN		5	587	+			UPI00022F843E	83			IBR-type.		SNV	RNF217,synonymous_variant,p.=,ENST00000521654,NM_001286398.1;RNF217,synonymous_variant,p.=,ENST00000560949,;RNF217,synonymous_variant,p.=,ENST00000359704,NM_152553.2;RNF217,synonymous_variant,p.=,ENST00000275184,;RNF217,5_prime_UTR_variant,,ENST00000368414,;RNF217,3_prime_UTR_variant,,ENST00000519565,;RNF217,3_prime_UTR_variant,,ENST00000432158,;RNF217,non_coding_transcript_exon_variant,,ENST00000368415,;	uc003pzs.2	c.249C>T	1125/11325	2	2			c.249C>T						6	SNP	c.(247-249)TGC>TGT	24	24				0	Broad	ring finger protein 217			125379096		0.388	ENSG00000146373	13262	g.chr6:125379096C>T	protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding							166.534967	KEEP	37	24	-1	22	24	37	24	-1	167.224654	22	24	0.593407	1	0	0	0	0	0	0	1	0	--	--		0	T			RNF217_uc003pzr.2_Silent_p.C140C|RNF217_uc003pzt.2_RNA	117	GBM-12-0615-TP	p.C83C	C	AGATCCAGTGCCCTACCTGCC	NM_152553	NP_689766	125379096	Q8TC41	RN217_HUMAN	0	LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)	5	587	+	T	T			Silent	83			IBR-type.			
RNF26	79102	broad.mit.edu	GRCh37	11	119206097	119206097	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-5858-01	TCGA-06-5858-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311413.4:c.265A>G	p.Ser89Gly	p.S89G	ENST00000311413	NM_032015.4	89	Agc/Ggc	0			1			G	S/G	uc001pwh.2	protein_coding	YES	CCDS8419.1			265/1302									ovary(1)	1	c.(265-267)AGC>GGC			hmmpanther:PTHR22696:SF1,hmmpanther:PTHR22696	ring finger protein 26				ENSP00000312439		1-Jan									COSM3397469	1-Jan	.		ENST00000311413	Transcript					zinc ion binding	ENSG00000173456	g.chr11:119206097A>G	14646			MODERATE		0.44	neutral	getma.org/?cm=msa&ty=f&p=RNF26_HUMAN&rb=1&re=319&var=S89G	NA	getma.org/?cm=var&var=hg19,11,119206097,A,G&fts=all	S89G	--	--	1																																			1	1		benign(0.003)	p.S89G	NM_032015	NP_114404		tolerated(1)	1	RNF26_HUMAN	RNF26	HGNC	Q9BY78	RNF26_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)			1	861	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	UPI0000001BF4	89			Leu-rich.		SNV	RNF26,missense_variant,p.Ser89Gly,ENST00000311413,NM_032015.4;MFRP,downstream_gene_variant,,ENST00000555262,;C1QTNF5,downstream_gene_variant,,ENST00000445041,NM_031433.3,NM_015645.4;C1QTNF5,downstream_gene_variant,,ENST00000528368,NM_001278431.1;RP11-334E6.10,downstream_gene_variant,,ENST00000501918,;C1QTNF5,downstream_gene_variant,,ENST00000525657,;MFRP,downstream_gene_variant,,ENST00000530681,;	uc001pwh.2	c.265A>G	861/2787	3	3			c.265A>G						11	SNP	c.(265-267)AGC>GGC	13	13			ovary(1)	1	Broad	ring finger protein 26			119206097		0.607	ENSG00000173456	13267	g.chr11:119206097A>G			zinc ion binding							659.097492	KEEP	108	99	-1	40	35	108	99	-1	671.596573	40	35	0.740586	1	0	0	0	0	1	0	0	0	--	--		0	G				102	GBM-06-5858-TP	p.S89G	A	TCTGCTGTATAGCTGCTGCTC	NM_032015	NP_114404	119206097	Q9BY78	RNF26_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)	1	861	+	G	G		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	Missense_Mutation	89			Leu-rich.			
RNF26	0	broad.mit.edu	GRCh37	11	119206267	119206267	+	synonymous_variant	Silent	SNP	T	T	A			TCGA-32-2491-01	TCGA-32-2491-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311413.4:c.435T>A	p.Ala145=	p.A145=	ENST00000311413	NM_032015.4	145	gcT/gcA	0			1			A	A	uc001pwh.2	protein_coding	YES	CCDS8419.1			435/1302									ovary(1)	1	c.(433-435)GCT>GCA			hmmpanther:PTHR22696:SF1,hmmpanther:PTHR22696	ring finger protein 26				ENSP00000312439		1-Jan									COSM3397470	1-Jan	.		ENST00000311413	Transcript					zinc ion binding	ENSG00000173456	g.chr11:119206267T>A	14646			LOW								--	--	1																																			1	1			p.A145A	NM_032015	NP_114404			1	RNF26_HUMAN	RNF26	HGNC	Q9BY78	RNF26_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)			1	1031	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	UPI0000001BF4	145			Leu-rich.		SNV	RNF26,synonymous_variant,p.=,ENST00000311413,NM_032015.4;MFRP,downstream_gene_variant,,ENST00000555262,;C1QTNF5,downstream_gene_variant,,ENST00000445041,NM_031433.3,NM_015645.4;C1QTNF5,downstream_gene_variant,,ENST00000528368,NM_001278431.1;RP11-334E6.10,downstream_gene_variant,,ENST00000501918,;C1QTNF5,downstream_gene_variant,,ENST00000525657,;MFRP,downstream_gene_variant,,ENST00000530681,;	uc001pwh.2	c.435T>A	1031/2787	1	1			c.435T>A						11	SNP	c.(433-435)GCT>GCA	64	64			ovary(1)	1	Broad	ring finger protein 26			119206267		0.592	ENSG00000173456	13267	g.chr11:119206267T>A			zinc ion binding							-6.029358	KEEP	1	3	-1	32	31	1	3	-1	7.416898	32	31	0.048387	1	0	0	0	0	0	0	1	0	--	--		0	A				235	GBM-32-2491-TP	p.A145A	T	GCCTGGTGGCTTATGTGATCA	NM_032015	NP_114404	119206267	Q9BY78	RNF26_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)	1	1031	+	A	A		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	Silent	145			Leu-rich.			
RNF31	0	broad.mit.edu	GRCh37	14	24620756	24620756	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-41-4097-01	TCGA-41-4097-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324103.6:c.1800G>C	p.Gln600His	p.Q600H	ENST00000324103	NM_017999.4	600	caG/caC	0			1			C	Q/H	uc001wmn.1	protein_coding	YES	CCDS41931.1			1800/3219									large_intestine(1)|ovary(1)	2	c.(1798-1800)CAG>CAC			PROSITE_profiles:PS50030,hmmpanther:PTHR16004,hmmpanther:PTHR16004:SF1,Gene3D:1.10.8.10	ring finger protein 31				ENSP00000315112		21-Oct									COSM3401254	21-Oct	.		ENST00000324103	Transcript	1		CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000092098	g.chr14:24620756G>C	16031			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=RNF31_HUMAN&rb=564&re=615&var=Q600H	getma.org/pdb.php?prot=RNF31_HUMAN&from=564&to=615&var=Q600H	getma.org/?cm=var&var=hg19,14,24620756,G,C&fts=all	Q600H	--	--	1																																		RNF31_uc001wml.1_Missense_Mutation_p.Q449H|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.Q359H|RNF31_uc001wmo.1_Missense_Mutation_p.Q67H|RNF31_uc001wmp.2_RNA	1	1		benign(0.103)	p.Q600H	NM_017999	NP_060469		tolerated(0.09)	1	RNF31_HUMAN	RNF31	HGNC	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	H0YNK5_HUMAN,H0YNJ0_HUMAN,H0YNC1_HUMAN,H0YMK6_HUMAN,H0YM83_HUMAN,H0YM57_HUMAN,H0YM13_HUMAN		10	2049	+			UPI0000072F93	600			Interaction with RBCK1.|UBA.		SNV	RNF31,missense_variant,p.Gln600His,ENST00000324103,NM_017999.4;RNF31,missense_variant,p.Gln449His,ENST00000559275,;RNF31,missense_variant,p.Gln449His,ENST00000382687,;RNF31,missense_variant,p.Gln445His,ENST00000560787,;PSME2,upstream_gene_variant,,ENST00000216802,NM_002818.2;RNF31,downstream_gene_variant,,ENST00000559533,;PSME2,upstream_gene_variant,,ENST00000560410,;RNF31,upstream_gene_variant,,ENST00000560754,;RNF31,downstream_gene_variant,,ENST00000557991,;RNF31,downstream_gene_variant,,ENST00000560071,;RNF31,downstream_gene_variant,,ENST00000559308,;RNF31,downstream_gene_variant,,ENST00000559260,;RNF31,downstream_gene_variant,,ENST00000560875,;PSME2,upstream_gene_variant,,ENST00000471700,;RNF31,downstream_gene_variant,,ENST00000557878,;RNF31,downstream_gene_variant,,ENST00000559438,;RNF31,downstream_gene_variant,,ENST00000559882,;RNF31,downstream_gene_variant,,ENST00000558634,;RNF31,downstream_gene_variant,,ENST00000559583,;PSME2,upstream_gene_variant,,ENST00000561103,;PSME2,upstream_gene_variant,,ENST00000559613,;RP11-468E2.4,missense_variant,p.Gln75His,ENST00000558468,;RNF31,non_coding_transcript_exon_variant,,ENST00000559071,;RNF31,intron_variant,,ENST00000491351,;PSME2,upstream_gene_variant,,ENST00000558931,;PSME2,upstream_gene_variant,,ENST00000558273,;RNF31,downstream_gene_variant,,ENST00000560342,;RNF31,upstream_gene_variant,,ENST00000559449,;PSME2,upstream_gene_variant,,ENST00000560788,;RNF31,downstream_gene_variant,,ENST00000558907,;PSME2,upstream_gene_variant,,ENST00000560592,;PSME2,upstream_gene_variant,,ENST00000559493,;PSME2,upstream_gene_variant,,ENST00000560370,;RNF31,upstream_gene_variant,,ENST00000558452,;	uc001wmn.1	c.1800G>C	2120/3627	3	3			c.1800G>C						14	SNP	c.(1798-1800)CAG>CAC	52	52			large_intestine(1)|ovary(1)	2	Broad	ring finger protein 31			24620756		0.627	ENSG00000092098	13268	g.chr14:24620756G>C	CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding							-8.735131	KEEP	3	0	-1	34	38	3	0	-1	7.235878	34	38	0.042254	1	0	0	0	0	1	0	0	0	--	--		0	C			RNF31_uc001wml.1_Missense_Mutation_p.Q449H|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.Q359H|RNF31_uc001wmo.1_Missense_Mutation_p.Q67H|RNF31_uc001wmp.2_RNA	257	GBM-41-4097-TP	p.Q600H	G	CATTGTTCCAGCACGGAGGTG	NM_017999	NP_060469	24620756	Q96EP0	RNF31_HUMAN	0		GBM - Glioblastoma multiforme(265;0.00861)	10	2049	+	C	C			Missense_Mutation	600			Interaction with RBCK1.|UBA.			
RNF32	0	broad.mit.edu	GRCh37	7	156451221	156451221	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-28-5220-01	TCGA-28-5220-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317955.5:c.641C>G	p.Pro214Arg	p.P214R	ENST00000317955	NM_030936.3	214	cCt/cGt	0			1			G	P/R	uc003wmo.2	protein_coding		CCDS5944.1			641/1089										0	c.(640-642)CCT>CGT			PROSITE_profiles:PS50096,hmmpanther:PTHR14991,hmmpanther:PTHR14991:SF0	ring finger protein 32				ENSP00000315950		9-Jul									COSM3411855,COSM3411857,COSM3411856	9-Jul	.		ENST00000317955	Transcript				aggresome|endosome	protein binding|zinc ion binding	ENSG00000105982	g.chr7:156451221C>G	17118			MODERATE		2.855	medium	getma.org/?cm=msa&ty=f&p=RNF32_HUMAN&rb=186&re=215&var=P214R	NA	getma.org/?cm=var&var=hg19,7,156451221,C,G&fts=all	P214R	--	--	1																																		RNF32_uc010lql.1_RNA|RNF32_uc010lqm.2_Missense_Mutation_p.P214R|RNF32_uc003wmq.2_Missense_Mutation_p.P214R|RNF32_uc003wmr.2_Missense_Mutation_p.P214R|RNF32_uc003wms.2_Missense_Mutation_p.P214R|RNF32_uc003wmu.2_RNA|RNF32_uc003wmt.2_Missense_Mutation_p.P214R	1,1,1			probably_damaging(0.999)	p.P214R	NM_030936	NP_112198		deleterious(0)	1,1,1	RNF32_HUMAN	RNF32	HGNC	Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	Q8TDF9_HUMAN,E9PES2_HUMAN		7	823	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	UPI000006D015	214			IQ.		SNV	RNF32,missense_variant,p.Pro214Arg,ENST00000392741,;RNF32,missense_variant,p.Pro214Arg,ENST00000405335,;RNF32,missense_variant,p.Pro214Arg,ENST00000432459,NM_001184996.1;RNF32,missense_variant,p.Pro214Arg,ENST00000311822,;RNF32,missense_variant,p.Pro214Arg,ENST00000392743,NM_001184997.1;RNF32,missense_variant,p.Pro214Arg,ENST00000317955,NM_030936.3;RNF32,missense_variant,p.Pro190Arg,ENST00000343665,;RNF32,missense_variant,p.Pro214Arg,ENST00000404282,;AC005534.8,upstream_gene_variant,,ENST00000455709,;RNF32,non_coding_transcript_exon_variant,,ENST00000480011,;RNF32,non_coding_transcript_exon_variant,,ENST00000463028,;RNF32,non_coding_transcript_exon_variant,,ENST00000493999,;RNF32,non_coding_transcript_exon_variant,,ENST00000472537,;RNF32,3_prime_UTR_variant,,ENST00000392747,;RNF32,downstream_gene_variant,,ENST00000469382,;	uc003wmo.2	c.641C>G	759/1682	3	3			c.641C>G						7	SNP	c.(640-642)CCT>CGT	4	4				0	Broad	ring finger protein 32			156451221		0.383	ENSG00000105982	13269	g.chr7:156451221C>G		aggresome|endosome	protein binding|zinc ion binding							203.335034	KEEP	45	29	-1	99	89	45	29	-1	213.070862	99	89	0.285106	1	0	0	0	0	1	0	0	0	--	--		0	G			RNF32_uc010lql.1_RNA|RNF32_uc010lqm.2_Missense_Mutation_p.P214R|RNF32_uc003wmq.2_Missense_Mutation_p.P214R|RNF32_uc003wmr.2_Missense_Mutation_p.P214R|RNF32_uc003wms.2_Missense_Mutation_p.P214R|RNF32_uc003wmu.2_RNA|RNF32_uc003wmt.2_Missense_Mutation_p.P214R	226	GBM-28-5220-TP	p.P214R	C	AAAACAGTACCTCCCACAGAT	NM_030936	NP_112198	156451221	Q9H0A6	RNF32_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	7	823	+	G	G	Ovarian(565;0.218)	all_hematologic(28;0.0592)	Missense_Mutation	214			IQ.			
RNF40	9810	broad.mit.edu	GRCh37	16	30774800	30774800	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0686-01	TCGA-06-0686-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324685.6:c.362C>A	p.Ala121Glu	p.A121E	ENST00000324685	NM_014771.3	121	gCg/gAg	0			1			A	A/E	uc002dzq.2	protein_coding	YES	CCDS10691.1			362/3006									central_nervous_system(1)	1	c.(361-363)GCG>GAG			hmmpanther:PTHR23163,hmmpanther:PTHR23163:SF1	ring finger protein 40				ENSP00000325677		20-Apr									COSM3402279	20-Apr	.		ENST00000324685	Transcript			histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000103549	g.chr16:30774800C>A	16867			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=BRE1B_HUMAN&rb=1&re=757&var=A121E	NA	getma.org/?cm=var&var=hg19,16,30774800,C,A&fts=all	A121E	--	--	1																																		C16orf93_uc002dzm.2_5'Flank|C16orf93_uc002dzn.2_5'Flank|C16orf93_uc002dzo.2_5'Flank|C16orf93_uc002dzp.2_5'Flank|RNF40_uc010caa.2_Missense_Mutation_p.A121E|RNF40_uc010cab.2_Missense_Mutation_p.A121E|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Missense_Mutation_p.A121E|RNF40_uc010vfb.1_Intron	1	1		benign(0.002)	p.A121E	NM_014771	NP_055586		tolerated(0.94)	1	BRE1B_HUMAN	RNF40	HGNC	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		I3L332_HUMAN,H3BUL6_HUMAN,H3BS50_HUMAN,H3BQ99_HUMAN,B4E313_HUMAN		4	485	+			UPI000013D2CF	121					SNV	RNF40,missense_variant,p.Ala121Glu,ENST00000324685,NM_014771.3,NM_001207033.1,NM_001286572.1;RNF40,missense_variant,p.Ala121Glu,ENST00000563683,;RNF40,missense_variant,p.Ala121Glu,ENST00000357890,NM_001207034.1;RNF40,missense_variant,p.Ala121Glu,ENST00000566811,;RNF40,missense_variant,p.Ala121Glu,ENST00000565931,;RNF40,intron_variant,,ENST00000402121,;RNF40,intron_variant,,ENST00000565995,;PHKG2,downstream_gene_variant,,ENST00000563588,NM_000294.2;C16orf93,upstream_gene_variant,,ENST00000543610,NM_001014979.2;PHKG2,downstream_gene_variant,,ENST00000424889,NM_001172432.1;C16orf93,upstream_gene_variant,,ENST00000541260,;C16orf93,upstream_gene_variant,,ENST00000545825,NM_001195620.1;RNF40,downstream_gene_variant,,ENST00000563909,;C16orf93,upstream_gene_variant,,ENST00000544613,;C16orf93,upstream_gene_variant,,ENST00000535476,;RNF40,non_coding_transcript_exon_variant,,ENST00000493683,;C16orf93,upstream_gene_variant,,ENST00000544487,;C16orf93,upstream_gene_variant,,ENST00000543128,;C16orf93,upstream_gene_variant,,ENST00000544643,;C16orf93,upstream_gene_variant,,ENST00000546006,;C16orf93,upstream_gene_variant,,ENST00000433909,;C16orf93,upstream_gene_variant,,ENST00000545809,;RNF40,upstream_gene_variant,,ENST00000566703,;RNF40,upstream_gene_variant,,ENST00000564260,;C16orf93,upstream_gene_variant,,ENST00000537986,;	uc002dzq.2	c.362C>A	797/5634	2	2			c.362C>A						16	SNP	c.(361-363)GCG>GAG	28	28			central_nervous_system(1)	1	Broad	ring finger protein 40			30774800		0.562	ENSG00000103549	13274	g.chr16:30774800C>A	histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding							-6.628708	KEEP	3	3	0.5	62	41	3	3	0.5	14.156948	62	41	0.058824	1	0	0	0	0	1	0	0	0	--	--		0	A			C16orf93_uc002dzm.2_5'Flank|C16orf93_uc002dzn.2_5'Flank|C16orf93_uc002dzo.2_5'Flank|C16orf93_uc002dzp.2_5'Flank|RNF40_uc010caa.2_Missense_Mutation_p.A121E|RNF40_uc010cab.2_Missense_Mutation_p.A121E|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Missense_Mutation_p.A121E|RNF40_uc010vfb.1_Intron	64	GBM-06-0686-TP	p.A121E	C	CTGTCTTCAGCGCCTGAGGCA	NM_014771	NP_055586	30774800	O75150	BRE1B_HUMAN	0	Colorectal(24;0.198)		4	485	+	A	A			Missense_Mutation	121						
RNF40	0	broad.mit.edu	GRCh37	16	30774843	30774843	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5218-01	TCGA-28-5218-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324685.6:c.405G>A	p.Gly135=	p.G135=	ENST00000324685	NM_014771.3	135	ggG/ggA	0			1			A	G	uc002dzq.2	protein_coding	YES	CCDS10691.1			405/3006									central_nervous_system(1)	1	c.(403-405)GGG>GGA			hmmpanther:PTHR23163,hmmpanther:PTHR23163:SF1	ring finger protein 40				ENSP00000325677		20-Apr									COSM3402280	20-Apr	.		ENST00000324685	Transcript			histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000103549	g.chr16:30774843G>A	16867			LOW								--	--	1																																		C16orf93_uc002dzm.2_5'Flank|C16orf93_uc002dzn.2_5'Flank|C16orf93_uc002dzo.2_5'Flank|C16orf93_uc002dzp.2_5'Flank|RNF40_uc010caa.2_Silent_p.G135G|RNF40_uc010cab.2_Silent_p.G135G|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Silent_p.G135G|RNF40_uc010vfb.1_Intron	1	1			p.G135G	NM_014771	NP_055586			1	BRE1B_HUMAN	RNF40	HGNC	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		I3L332_HUMAN,H3BUL6_HUMAN,H3BS50_HUMAN,H3BQ99_HUMAN,B4E313_HUMAN		4	528	+			UPI000013D2CF	135					SNV	RNF40,synonymous_variant,p.=,ENST00000324685,NM_014771.3,NM_001207033.1,NM_001286572.1;RNF40,synonymous_variant,p.=,ENST00000563683,;RNF40,synonymous_variant,p.=,ENST00000357890,NM_001207034.1;RNF40,synonymous_variant,p.=,ENST00000565931,;RNF40,intron_variant,,ENST00000402121,;RNF40,intron_variant,,ENST00000565995,;PHKG2,downstream_gene_variant,,ENST00000563588,NM_000294.2;C16orf93,upstream_gene_variant,,ENST00000543610,NM_001014979.2;PHKG2,downstream_gene_variant,,ENST00000424889,NM_001172432.1;C16orf93,upstream_gene_variant,,ENST00000541260,;C16orf93,upstream_gene_variant,,ENST00000545825,NM_001195620.1;RNF40,downstream_gene_variant,,ENST00000563909,;RNF40,downstream_gene_variant,,ENST00000566811,;C16orf93,upstream_gene_variant,,ENST00000544613,;C16orf93,upstream_gene_variant,,ENST00000535476,;RNF40,non_coding_transcript_exon_variant,,ENST00000493683,;C16orf93,upstream_gene_variant,,ENST00000544487,;C16orf93,upstream_gene_variant,,ENST00000543128,;C16orf93,upstream_gene_variant,,ENST00000544643,;C16orf93,upstream_gene_variant,,ENST00000546006,;C16orf93,upstream_gene_variant,,ENST00000433909,;C16orf93,upstream_gene_variant,,ENST00000545809,;RNF40,upstream_gene_variant,,ENST00000566703,;RNF40,upstream_gene_variant,,ENST00000564260,;C16orf93,upstream_gene_variant,,ENST00000537986,;	uc002dzq.2	c.405G>A	840/5634	2	2			c.405G>A						16	SNP	c.(403-405)GGG>GGA	21	21			central_nervous_system(1)	1	Broad	ring finger protein 40			30774843		0.612	ENSG00000103549	13274	g.chr16:30774843G>A	histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding							22.364231	KEEP	9	8	-1	45	56	9	8	-1	35.870607	45	56	0.144144	1	0	0	0	0	0	0	1	0	--	--		0	A			C16orf93_uc002dzm.2_5'Flank|C16orf93_uc002dzn.2_5'Flank|C16orf93_uc002dzo.2_5'Flank|C16orf93_uc002dzp.2_5'Flank|RNF40_uc010caa.2_Silent_p.G135G|RNF40_uc010cab.2_Silent_p.G135G|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Silent_p.G135G|RNF40_uc010vfb.1_Intron	224	GBM-28-5218-TP	p.G135G	G	CATGTGATGGGACTCCTCTCC	NM_014771	NP_055586	30774843	O75150	BRE1B_HUMAN	0	Colorectal(24;0.198)		4	528	+	A	A			Silent	135						
RNF40	9810		GRCh37	16	30783282	30783282	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000324685.6:c.2715C>A	p.Leu905=	p.L905=	ENST00000324685	NM_014771.3	905	ctC/ctA	0																																																																																																																																																																																																																																												
RNF43	54894	broad.mit.edu	GRCh37	17	56435337	56435337	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-2562-01	TCGA-06-2562-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000407977.2:c.1800A>C	p.Arg600Ser	p.R600S	ENST00000407977		600	agA/agC	0			1			G	R/S	uc002iwf.2	protein_coding		CCDS11607.1			1800/2352									ovary(1)	1	c.(1798-1800)AGA>AGC			hmmpanther:PTHR16200:SF2,hmmpanther:PTHR16200	ring finger protein 43 precursor				ENSP00000385328		10-Sep									COSM2152805	10-Sep	.		ENST00000407977	Transcript				endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	ENSG00000108375	g.chr17:56435337T>G	18505			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=RNF43_HUMAN&rb=421&re=781&var=R600S	NA	getma.org/?cm=var&var=hg19,17,56435337,T,G&fts=all	R600S	--	--	1																																		RNF43_uc010wnv.1_Missense_Mutation_p.R559S|RNF43_uc002iwh.3_Missense_Mutation_p.R600S|RNF43_uc002iwg.3_Missense_Mutation_p.R600S|RNF43_uc010dcw.2_Missense_Mutation_p.R473S	1			benign(0.003)	p.R600S	NM_017763	NP_060233		tolerated_low_confidence(0.28)	1	RNF43_HUMAN	RNF43	HGNC	Q68DV7	RNF43_HUMAN					8	3756	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		UPI000022A469	600	R -> G (in Ref. 1; BAD51435 and 2; BAA91085).		Pro-rich.|Cytoplasmic (Potential).		SNV	RNF43,missense_variant,p.Arg600Ser,ENST00000584437,;RNF43,missense_variant,p.Arg600Ser,ENST00000407977,;RNF43,missense_variant,p.Arg559Ser,ENST00000500597,;RNF43,missense_variant,p.Arg600Ser,ENST00000577716,NM_017763.4;RNF43,missense_variant,p.Arg559Ser,ENST00000583753,;RNF43,missense_variant,p.Arg473Ser,ENST00000581868,;RNF43,missense_variant,p.Arg473Ser,ENST00000577625,;SUPT4H1,upstream_gene_variant,,ENST00000580947,;BZRAP1-AS1,intron_variant,,ENST00000583841,;BZRAP1-AS1,downstream_gene_variant,,ENST00000580022,;BZRAP1-AS1,downstream_gene_variant,,ENST00000578025,;BZRAP1-AS1,downstream_gene_variant,,ENST00000579527,;BZRAP1-AS1,downstream_gene_variant,,ENST00000585236,;BZRAP1-AS1,downstream_gene_variant,,ENST00000579859,;	uc002iwf.2	c.1800A>C	2521/5516	3	3			c.1800A>C						17	SNP	c.(1798-1800)AGA>AGC	9	9			ovary(1)	1	Broad	ring finger protein 43 precursor			56435337		0.657	ENSG00000108375	13276	g.chr17:56435337T>G		endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding							239.824114	KEEP	42	40	-1	80	84	42	40	-1	245.200606	80	84	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	G			RNF43_uc010wnv.1_Missense_Mutation_p.R559S|RNF43_uc002iwh.3_Missense_Mutation_p.R600S|RNF43_uc002iwg.3_Missense_Mutation_p.R600S|RNF43_uc010dcw.2_Missense_Mutation_p.R473S	85	GBM-06-2562-TP	p.R600S	T	CTGAGTTGGATCTGGTGACTT	NM_017763	NP_060233	56435337	Q68DV7	RNF43_HUMAN	0			8	3756	-	G	G	Medulloblastoma(34;0.127)|all_neural(34;0.237)		Missense_Mutation	600	R -> G (in Ref. 1; BAD51435 and 2; BAA91085).		Pro-rich.|Cytoplasmic (Potential).			
RNF43	0	broad.mit.edu	GRCh37	17	56439918	56439918	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2528-01	TCGA-27-2528-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000407977.2:c.674G>A	p.Arg225His	p.R225H	ENST00000407977		225	cGc/cAc	0	T:0.0002	T:0	1	T:0		T	R/H	uc002iwf.2	protein_coding		CCDS11607.1			674/2352									ovary(1)	1	c.(673-675)CGC>CAC			hmmpanther:PTHR16200:SF2,hmmpanther:PTHR16200	ring finger protein 43 precursor		T:0.001	T:0	ENSP00000385328	T:0	10-Jun	0.000165	0.000417	8.70E-05	0.000234		6.27E-05		0.000615	rs367688879,COSM3195646	10-Jun	common_variant		ENST00000407977	Transcript		T:0.0002		endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	ENSG00000108375	g.chr17:56439918C>T	18505			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=RNF43_HUMAN&rb=1&re=229&var=R225H	NA	getma.org/?cm=var&var=hg19,17,56439918,C,T&fts=all	R225H	--	--	1																																		RNF43_uc010wnv.1_Missense_Mutation_p.R184H|RNF43_uc002iwh.3_Missense_Mutation_p.R225H|RNF43_uc002iwg.3_Missense_Mutation_p.R225H|RNF43_uc010dcw.2_Missense_Mutation_p.R98H	0,1			benign(0.002)	p.R225H	NM_017763	NP_060233	T:0	tolerated(0.22)	0,1	RNF43_HUMAN	RNF43	HGNC	Q68DV7	RNF43_HUMAN					5	2630	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		UPI000022A469	225	R -> H (in Ref. 2; BAH12429).		Cytoplasmic (Potential).		SNV	RNF43,missense_variant,p.Arg225His,ENST00000584437,;RNF43,missense_variant,p.Arg225His,ENST00000407977,;RNF43,missense_variant,p.Arg184His,ENST00000500597,;RNF43,missense_variant,p.Arg225His,ENST00000577716,NM_017763.4;RNF43,missense_variant,p.Arg184His,ENST00000583753,;RNF43,missense_variant,p.Arg98His,ENST00000581868,;RNF43,missense_variant,p.Arg98His,ENST00000577625,;BZRAP1-AS1,intron_variant,,ENST00000583841,;RNF43,downstream_gene_variant,,ENST00000582293,;	uc002iwf.2	c.674G>A	1395/5516	2	2			c.674G>A						17	SNP	c.(673-675)CGC>CAC	30	30			ovary(1)	1	Broad	ring finger protein 43 precursor			56439918		0.597	ENSG00000108375	13276	g.chr17:56439918C>T		endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding							76.967972	KEEP	27	28	-1	30	47	27	28	-1	77.022995	30	47	0.467742	1	0	0	0	0	1	0	0	0	--	--		0	T			RNF43_uc010wnv.1_Missense_Mutation_p.R184H|RNF43_uc002iwh.3_Missense_Mutation_p.R225H|RNF43_uc002iwg.3_Missense_Mutation_p.R225H|RNF43_uc010dcw.2_Missense_Mutation_p.R98H	205	GBM-27-2528-TP	p.R225H	C	CCTGCTGTGGCGGGGGCGGCA	NM_017763	NP_060233	56439918	Q68DV7	RNF43_HUMAN	0			5	2630	-	T	T	Medulloblastoma(34;0.127)|all_neural(34;0.237)		Missense_Mutation	225	R -> H (in Ref. 2; BAH12429).		Cytoplasmic (Potential).			
RNF43	54894		GRCh37	17	56492699	56492699	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000407977.2:c.240A>G	p.Gly80=	p.G80=	ENST00000407977		80	ggA/ggG	0																																																																																																																																																																																																																																												
RNF5	0	broad.mit.edu	GRCh37	6	32147882	32147882	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375094.3:c.424G>A	p.Glu142Lys	p.E142K	ENST00000375094	NM_006913.3	142	Gag/Aag	0			1			A	E/K	uc003oaj.3	protein_coding	YES	CCDS4745.1			424/543										0	c.(424-426)GAG>AAG			hmmpanther:PTHR12313:SF1,hmmpanther:PTHR12313	ring finger protein 5				ENSP00000364235		6-May									COSM3410977,COSM3410978	6-May	.		ENST00000375094	Transcript			ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000204308	g.chr6:32147882G>A	10068			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=RNF5_HUMAN&rb=70&re=180&var=E142K	NA	getma.org/?cm=var&var=hg19,6,32147882,G,A&fts=all	E142K	1.76	low	1																																		AGPAT1_uc003oaf.2_5'Flank|AGPAT1_uc003oag.2_5'Flank|AGPAT1_uc003oah.2_5'Flank	1,1	1		possibly_damaging(0.715)	p.E142K	NM_006913	NP_008844		tolerated(0.1)	1,1	RNF5_HUMAN	RNF5	HGNC	Q99942	RNF5_HUMAN					5	551	+			UPI000006D329	142					SNV	RNF5,missense_variant,p.Glu142Lys,ENST00000427134,;RNF5,missense_variant,p.Glu142Lys,ENST00000375094,NM_006913.3;PBX2,downstream_gene_variant,,ENST00000375050,NM_002586.4;AGPAT1,upstream_gene_variant,,ENST00000395499,;AGPAT1,upstream_gene_variant,,ENST00000375107,NM_006411.3;AGPAT1,upstream_gene_variant,,ENST00000395497,;AGPAT1,upstream_gene_variant,,ENST00000336984,NM_032741.4;AGPAT1,upstream_gene_variant,,ENST00000375104,;AGER,downstream_gene_variant,,ENST00000375076,NM_001206929.1,NM_001206932.1,NM_001136.4;AGER,downstream_gene_variant,,ENST00000375070,;AGER,downstream_gene_variant,,ENST00000375069,;AGER,downstream_gene_variant,,ENST00000375055,NM_001206954.1,NM_001206934.1,NM_001206936.1,NM_001206940.1,NM_001206966.1;AGER,downstream_gene_variant,,ENST00000375067,NM_172197.2;AGER,downstream_gene_variant,,ENST00000438221,;AGPAT1,upstream_gene_variant,,ENST00000412465,;AGER,downstream_gene_variant,,ENST00000375065,;AGER,downstream_gene_variant,,ENST00000450110,;AGER,downstream_gene_variant,,ENST00000375056,;AGER,downstream_gene_variant,,ENST00000538695,;XXbac-BPG300A18.13,downstream_gene_variant,,ENST00000559458,;AGPAT1,upstream_gene_variant,,ENST00000490711,;AGPAT1,upstream_gene_variant,,ENST00000476663,;RNF5,downstream_gene_variant,,ENST00000487940,;AGER,downstream_gene_variant,,ENST00000484849,;AGER,downstream_gene_variant,,ENST00000473619,;AGER,downstream_gene_variant,,ENST00000488669,;AGER,downstream_gene_variant,,ENST00000469940,;	uc003oaj.3	c.424G>A	582/1168	2	2			c.424G>A						6	SNP	c.(424-426)GAG>AAG	43	43				0	Broad	ring finger protein 5			32147882		0.557	ENSG00000204308	13278	g.chr6:32147882G>A	ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding							195.387845	KEEP	37	37	-1	86	73	37	37	-1	200.782466	86	73	0.333333	1	0	0	0	0	1	0	0	0	1.76	low		0	A			AGPAT1_uc003oaf.2_5'Flank|AGPAT1_uc003oag.2_5'Flank|AGPAT1_uc003oah.2_5'Flank	159	GBM-19-1390-TP	p.E142K	G	CAATGCCCATGAGCCTTTCCG	NM_006913	NP_008844	32147882	Q99942	RNF5_HUMAN	0			5	551	+	A	A			Missense_Mutation	142						
RNFT2	0	broad.mit.edu	GRCh37	12	117217036	117217036	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-3652-01	TCGA-12-3652-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257575.4:c.765C>T	p.Asp255=	p.D255=	ENST00000257575		255	gaC/gaT	0			1			T	D	uc009zwn.2	protein_coding	YES	CCDS44987.1			765/1335										0	c.(763-765)GAC>GAT			hmmpanther:PTHR15860:SF2,hmmpanther:PTHR15860	transmembrane protein 118 isoform 1				ENSP00000257575		11-Jul	8.24E-06					1.50E-05			rs754486519,COSM3398398,COSM3398397	11-Jul	.		ENST00000257575	Transcript				integral to membrane	zinc ion binding	ENSG00000135119	g.chr12:117217036C>T	25905			LOW								--	--	1																																		RNFT2_uc001twb.3_Silent_p.D255D|RNFT2_uc001twa.3_Silent_p.D165D|RNFT2_uc001twc.3_Silent_p.D3D	0,1,1	1			p.D255D	NM_001109903	NP_001103373			0,1,1	RNFT2_HUMAN	RNFT2	HGNC	Q96EX2	RNFT2_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.034)			7	998	+	all_neural(191;0.117)|Medulloblastoma(191;0.163)		UPI00001FBBF4	255			Extracellular (Potential).		SNV	RNFT2,synonymous_variant,p.=,ENST00000257575,;RNFT2,synonymous_variant,p.=,ENST00000392549,NM_001109903.1;RNFT2,synonymous_variant,p.=,ENST00000407967,NM_032814.3;RNFT2,intron_variant,,ENST00000319176,;RNU6-558P,upstream_gene_variant,,ENST00000364512,;RNFT2,3_prime_UTR_variant,,ENST00000547718,;	uc009zwn.2	c.765C>T	998/3882	2	2			c.765C>T						12	SNP	c.(763-765)GAC>GAT	29	29				0	Broad	transmembrane protein 118 isoform 1			117217036		0.547	ENSG00000135119	13283	g.chr12:117217036C>T		integral to membrane	zinc ion binding							334.614572	KEEP	54	60	-1	80	78	54	60	-1	335.242334	80	78	0.444915	1	0	0	0	0	0	0	1	0	--	--		0	T			RNFT2_uc001twb.3_Silent_p.D255D|RNFT2_uc001twa.3_Silent_p.D165D|RNFT2_uc001twc.3_Silent_p.D3D	127	GBM-12-3652-TP	p.D255D	C	AGATGCTGGACTTCTTTGACC	NM_001109903	NP_001103373	117217036	Q96EX2	RNFT2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(302;0.034)	7	998	+	T	T	all_neural(191;0.117)|Medulloblastoma(191;0.163)		Silent	255			Extracellular (Potential).			
RNH1	0	broad.mit.edu	GRCh37	11	494709	494709	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-2575-01	TCGA-41-2575-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354420.2:c.1368C>T	p.Ser456=	p.S456=	ENST00000354420	NM_203387.2	456	tcC/tcT	0			1			A	S	uc001lpk.1	protein_coding		CCDS7697.1			1368/1386										0	c.(1366-1368)TCC>TCT			Gene3D:3.80.10.10,hmmpanther:PTHR24112,hmmpanther:PTHR24112:SF30,Superfamily_domains:SSF52047	ribonuclease/angiogenin inhibitor				ENSP00000346402		11-Nov									COSM3397748	11-Nov	.		ENST00000354420	Transcript			mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity	ENSG00000023191	g.chr11:494709G>A	10074			LOW								--	--	1																																		RNH1_uc001lpl.1_Silent_p.S456S|RNH1_uc001lpm.1_Silent_p.S456S|RNH1_uc001lpn.1_Silent_p.S456S|RNH1_uc001lpo.1_Silent_p.S456S|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Silent_p.S456S|RNH1_uc001lpt.1_Silent_p.S213S|RNH1_uc001lpq.1_Silent_p.S456S|RNH1_uc001lpr.1_Silent_p.S456S|RNH1_uc001lps.1_Silent_p.S456S	1				p.S456S	NM_203389	NP_976323			1	RINI_HUMAN	RNH1	HGNC	P13489	RINI_HUMAN		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)	E9PR82_HUMAN,E9PMJ3_HUMAN,E9PMI1_HUMAN,E9PLZ3_HUMAN,E9PIM9_HUMAN		9	2776	-		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	UPI0000000DE4	456					SNV	RNH1,missense_variant,p.Pro285Leu,ENST00000529768,;RNH1,synonymous_variant,p.=,ENST00000534797,;RNH1,synonymous_variant,p.=,ENST00000397615,NM_203383.1,NM_002939.3;RNH1,synonymous_variant,p.=,ENST00000354420,NM_203387.2;RNH1,synonymous_variant,p.=,ENST00000397614,NM_203385.1;RNH1,synonymous_variant,p.=,ENST00000533410,NM_203386.2;RNH1,synonymous_variant,p.=,ENST00000356187,NM_203389.2;RNH1,synonymous_variant,p.=,ENST00000438658,NM_203384.1;RNH1,synonymous_variant,p.=,ENST00000397604,NM_203388.2;PTDSS2,downstream_gene_variant,,ENST00000308020,NM_030783.1;RNH1,downstream_gene_variant,,ENST00000527485,;RNH1,downstream_gene_variant,,ENST00000529306,;RNH1,downstream_gene_variant,,ENST00000529368,;RNH1,downstream_gene_variant,,ENST00000531149,;RNH1,3_prime_UTR_variant,,ENST00000525701,;RNH1,non_coding_transcript_exon_variant,,ENST00000525522,;PTDSS2,downstream_gene_variant,,ENST00000526878,;RNH1,downstream_gene_variant,,ENST00000524780,;RNH1,downstream_gene_variant,,ENST00000529115,;PTDSS2,downstream_gene_variant,,ENST00000527325,;RNH1,downstream_gene_variant,,ENST00000524464,;PTDSS2,downstream_gene_variant,,ENST00000531411,;PTDSS2,downstream_gene_variant,,ENST00000530029,;RNH1,downstream_gene_variant,,ENST00000531223,;	uc001lpk.1	c.1368C>T	1737/1894	2	2			c.1368C>T						11	SNP	c.(1366-1368)TCC>TCT	22	22				0	Broad	ribonuclease/angiogenin inhibitor			494709		0.647	ENSG00000023191	13285	g.chr11:494709G>A	mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity							249.691307	KEEP	44	46	-1	54	60	44	46	-1	250.093665	54	60	0.448864	1	0	0	0	0	0	0	1	0	--	--		0	A			RNH1_uc001lpl.1_Silent_p.S456S|RNH1_uc001lpm.1_Silent_p.S456S|RNH1_uc001lpn.1_Silent_p.S456S|RNH1_uc001lpo.1_Silent_p.S456S|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Silent_p.S456S|RNH1_uc001lpt.1_Silent_p.S213S|RNH1_uc001lpq.1_Silent_p.S456S|RNH1_uc001lpr.1_Silent_p.S456S|RNH1_uc001lps.1_Silent_p.S456S	253	GBM-41-2575-TP	p.S456S	G	TGACCCTCAGGGATGGCTTGT	NM_203389	NP_976323	494709	P13489	RINI_HUMAN	0		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)	9	2776	-	A	A		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	Silent	456						
RNMTL1	0	broad.mit.edu	GRCh37	17	685869	685880	+	inframe_deletion	In_Frame_Del	DEL	CCAGCACCTGGG	CCAGCACCTGGG	-			TCGA-06-0211-01	TCGA-06-0211-01	CCAGCACCTGGG	CCAGCACCTGGG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304478.4:c.251_262del	p.Pro84_Glu88delinsGln	p.P84_E88delinsQ	ENST00000304478	NM_018146.2	84	cCCAGCACCTGGGaa/caa	0			1			-	PSTWE/Q	uc002frw.2	protein_coding	YES	CCDS10997.1			251-262/1263									ovary(1)	1	c.(250-264)CCCAGCACCTGGGAA>CAA			hmmpanther:PTHR12029	RNA methyltransferase like 1				ENSP00000306080		4-Jan										4-Jan	.		ENST00000304478	Transcript			RNA processing		protein binding|RNA binding|RNA methyltransferase activity	ENSG00000171861	g.chr17:685869_685880delCCAGCACCTGGG	18485			MODERATE								--	--	1																																		GLOD4_uc002fru.2_5'Flank|GLOD4_uc010vqc.1_5'Flank|GLOD4_uc002frv.2_5'Flank		1			p.84_88PSTWE>Q	NM_018146	NP_060616				RMTL1_HUMAN	RNMTL1	HGNC	Q9HC36	RMTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)			1	357_368	+			UPI000003B01C	84_88					deletion	RNMTL1,inframe_deletion,p.Pro84_Glu88delinsGln,ENST00000304478,NM_018146.2;RNMTL1,inframe_deletion,p.Pro11_Glu15delinsGln,ENST00000571157,;GLOD4,upstream_gene_variant,,ENST00000301329,NM_016080.3;GLOD4,upstream_gene_variant,,ENST00000301328,;GLOD4,upstream_gene_variant,,ENST00000536578,;GLOD4,upstream_gene_variant,,ENST00000576419,;RNMTL1,inframe_deletion,p.Pro84_Glu88delinsGln,ENST00000574509,;RNMTL1,non_coding_transcript_exon_variant,,ENST00000574916,;GLOD4,upstream_gene_variant,,ENST00000576239,;GLOD4,upstream_gene_variant,,ENST00000571073,;GLOD4,upstream_gene_variant,,ENST00000574554,;GLOD4,upstream_gene_variant,,ENST00000575851,;GLOD4,upstream_gene_variant,,ENST00000575790,;GLOD4,upstream_gene_variant,,ENST00000574581,;GLOD4,upstream_gene_variant,,ENST00000576670,;GLOD4,upstream_gene_variant,,ENST00000576750,;GLOD4,upstream_gene_variant,,ENST00000574354,;GLOD4,upstream_gene_variant,,ENST00000572220,;	uc002frw.2	c.251_262delCCAGCACCTGGG	357-368/1809	5	5			c.251_262delCCAGCACCTGGG						17	DEL	c.(250-264)CCCAGCACCTGGGAA>CAA	40	40			ovary(1)	1	Broad	RNA methyltransferase like 1			685880		0.608	ENSG00000171861	13288	g.chr17:685869_685880delCCAGCACCTGGG	RNA processing		protein binding|RNA binding|RNA methyltransferase activity																				0.24	1	1	0	1	0	0	0	0	0	--	--		0	-			GLOD4_uc002fru.2_5'Flank|GLOD4_uc010vqc.1_5'Flank|GLOD4_uc002frv.2_5'Flank	48	GBM-06-0211-TP	p.84_88PSTWE>Q	CCAGCACCTGGG	TCCCGCGCTCCCAGCACCTGGGAAGAGTCTGG	NM_018146	NP_060616	685869	Q9HC36	RMTL1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)	1	357_368	+	-	-			In_Frame_Del	84_88						
RNPEP	6051	broad.mit.edu	GRCh37	1	201966632	201966632	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs114130028		TCGA-06-5417-01	TCGA-06-5417-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295640.4:c.1040A>T	p.Asn347Ile	p.N347I	ENST00000295640	NM_020216.3	347	aAt/aTt	0			1			T	N/I	uc001gxd.2	protein_coding	YES	CCDS1418.1			1040/1953									upper_aerodigestive_tract(1)	1	c.(1039-1041)AAT>ATT			Gene3D:1.10.390.10,Pfam_domain:PF01433,Prints_domain:PR00756,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF153,Superfamily_domains:SSF55486	arginyl aminopeptidase				ENSP00000295640		11-May									COSM2153283,COSM3400208	11-May	.		ENST00000295640	Transcript			leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding	ENSG00000176393	g.chr1:201966632A>T	10078			MODERATE		3.6	high	getma.org/?cm=msa&ty=f&p=AMPB_HUMAN&rb=31&re=417&var=N347I	getma.org/pdb.php?prot=AMPB_HUMAN&from=31&to=417&var=N347I	getma.org/?cm=var&var=hg19,1,201966632,A,T&fts=all	N347I	--	--	1																																		RNPEP_uc001gxe.2_Missense_Mutation_p.N48I|RNPEP_uc001gxf.2_Missense_Mutation_p.N216I	1,1	1		probably_damaging(0.999)	p.N347I	NM_020216	NP_064601		deleterious(0.03)	1,1	AMPB_HUMAN	RNPEP	HGNC	Q9H4A4	AMPB_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)			5	1069	+			UPI00000463FA	347					SNV	RNPEP,missense_variant,p.Asn347Ile,ENST00000295640,NM_020216.3;RNPEP,missense_variant,p.Asn308Ile,ENST00000367286,;RNPEP,missense_variant,p.Asn216Ile,ENST00000447312,;RNPEP,missense_variant,p.Asn93Ile,ENST00000449524,;RP11-465N4.4,downstream_gene_variant,,ENST00000419190,;RP11-465N4.5,upstream_gene_variant,,ENST00000608886,;RP11-465N4.4,downstream_gene_variant,,ENST00000415582,;RNPEP,non_coding_transcript_exon_variant,,ENST00000471105,;RNPEP,non_coding_transcript_exon_variant,,ENST00000492849,;RNPEP,non_coding_transcript_exon_variant,,ENST00000487116,;RNPEP,non_coding_transcript_exon_variant,,ENST00000481780,;RNPEP,non_coding_transcript_exon_variant,,ENST00000479726,;RNPEP,intron_variant,,ENST00000478617,;RNPEP,intron_variant,,ENST00000492587,;RNPEP,upstream_gene_variant,,ENST00000479531,;RNPEP,upstream_gene_variant,,ENST00000464707,;	uc001gxd.2	c.1040A>T	1083/2427	2	2			c.1040A>T						1	SNP	c.(1039-1041)AAT>ATT	28	28			upper_aerodigestive_tract(1)	1	Broad	arginyl aminopeptidase			201966632		0.542	ENSG00000176393	13290	g.chr1:201966632A>T	leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding	GBM(19;39 479 7473 13131 19462)			GBM(19;39 479 7473 13131 19462)			185.29879	KEEP	34	26	-1	49	48	34	26	-1	186.708269	49	48	0.395973	1	0	0	0	0	1	0	0	0	--	--		0	T			RNPEP_uc001gxe.2_Missense_Mutation_p.N48I|RNPEP_uc001gxf.2_Missense_Mutation_p.N216I	99	GBM-06-5417-TP	p.N347I	A	TTCTGGCTCAATGAAGGTTTC	NM_020216	NP_064601	201966632	Q9H4A4	AMPB_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)	5	1069	+	T	T			Missense_Mutation	347						
ROBO1	6091	broad.mit.edu	GRCh37	3	79639041	79639042	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	-			TCGA-02-2485-01	TCGA-02-2485-01	AG	AG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000464233.1:c.20_21del	p.Pro7LeufsTer25	p.P7Lfs*25	ENST00000464233	NM_002941.3	7	cCT/c	0			1			-	P/X	uc003dqe.2	protein_coding	YES	CCDS54611.1			20-21/4956									large_intestine(2)	2	c.(19-21)CCTfs			Cleavage_site_(Signalp):SignalP-noTM	roundabout 1 isoform a				ENSP00000420321		Feb-31										Feb-31	.		ENST00000464233	Transcript			activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	ENSG00000169855	g.chr3:79639041_79639042delAG	10249			HIGH								--	--	1																																				1			p.P7fs	NM_002941	NP_002932				ROBO1_HUMAN	ROBO1	HGNC	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)			2	228_229	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	UPI00000713D9	7					deletion	ROBO1,frameshift_variant,p.Pro7LeufsTer25,ENST00000464233,NM_002941.3;ROBO1,frameshift_variant,p.Pro7LeufsTer28,ENST00000492990,;	uc003dqe.2	c.20_21delCT	134-135/6742	5	5			c.20_21delCT						3	DEL	c.(19-21)CCTfs	50	50			large_intestine(2)	2	Broad	roundabout 1 isoform a			79639042		0.381	ENSG00000169855	13294	g.chr3:79639041_79639042delAG	activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			693			693														0.29	1	1	0	1	0	0	0	0	0	--	--		0	-				7	GBM-02-2485-TP	p.P7fs	AG	TGACCAAAAAAGGAACATGTTT	NM_002941	NP_002932	79639041	Q9Y6N7	ROBO1_HUMAN	0		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	2	228_229	-	-	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	Frame_Shift_Del	7						
ROBO1	6091	broad.mit.edu	GRCh37	3	78656067	78656070	+	frameshift_variant	Frame_Shift_Del	DEL	TCTG	TCTG	-			TCGA-06-5417-01	TCGA-06-5417-01	TCTG	TCTG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000464233.1:c.4557_4560del	p.Arg1520HisfsTer102	p.R1520Hfs*102	ENST00000464233	NM_002941.3	1519	gaCAGA/ga	0			1			-	DR/X	uc003dqe.2	protein_coding	YES	CCDS54611.1			4557-4560/4956									large_intestine(2)	2	c.(4555-4560)GACAGAfs			hmmpanther:PTHR10489:SF107,hmmpanther:PTHR10489	roundabout 1 isoform a				ENSP00000420321		29/31										29/31	.		ENST00000464233	Transcript			activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	ENSG00000169855	g.chr3:78656067_78656070delTCTG	10249			HIGH								--	--	1																																		ROBO1_uc003dqb.2_Frame_Shift_Del_p.D1480fs|ROBO1_uc003dqc.2_Frame_Shift_Del_p.D1419fs|ROBO1_uc003dqd.2_Frame_Shift_Del_p.D1474fs|ROBO1_uc010hoh.2_Frame_Shift_Del_p.D711fs|ROBO1_uc011bgl.1_Frame_Shift_Del_p.D1091fs		1			p.D1519fs	NM_002941	NP_002932				ROBO1_HUMAN	ROBO1	HGNC	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)			29	4765_4768	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	UPI00000713D9	1519_1520			Cytoplasmic (Potential).		deletion	ROBO1,frameshift_variant,p.Arg1481HisfsTer102,ENST00000436010,;ROBO1,frameshift_variant,p.Arg1520HisfsTer102,ENST00000464233,NM_002941.3;ROBO1,frameshift_variant,p.Arg1475HisfsTer102,ENST00000495273,NM_001145845.1,NM_133631.3;ROBO1,frameshift_variant,p.Arg1420HisfsTer102,ENST00000467549,;ROBO1,non_coding_transcript_exon_variant,,ENST00000466906,;ROBO1,non_coding_transcript_exon_variant,,ENST00000498428,;	uc003dqe.2	c.4557_4560delCAGA	4671-4674/6742	5	5			c.4557_4560delCAGA						3	DEL	c.(4555-4560)GACAGAfs	7	7			large_intestine(2)	2	Broad	roundabout 1 isoform a			78656070		0.485	ENSG00000169855	13294	g.chr3:78656067_78656070delTCTG	activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			693			693														0.38	1	1	0	1	0	0	0	0	0	--	--		0	-			ROBO1_uc003dqb.2_Frame_Shift_Del_p.D1480fs|ROBO1_uc003dqc.2_Frame_Shift_Del_p.D1419fs|ROBO1_uc003dqd.2_Frame_Shift_Del_p.D1474fs|ROBO1_uc010hoh.2_Frame_Shift_Del_p.D711fs|ROBO1_uc011bgl.1_Frame_Shift_Del_p.D1091fs	99	GBM-06-5417-TP	p.D1519fs	TCTG	TGTCTGATGATCTGTCTGTTCTTG	NM_002941	NP_002932	78656067	Q9Y6N7	ROBO1_HUMAN	0		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	29	4765_4768	-	-	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	Frame_Shift_Del	1519_1520			Cytoplasmic (Potential).			
ROBO1	0	broad.mit.edu	GRCh37	3	78711202	78711202	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01	TCGA-19-2631-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000464233.1:c.2029G>A	p.Val677Ile	p.V677I	ENST00000464233	NM_002941.3	677	Gtt/Att	0			1			T	V/I	uc003dqe.2	protein_coding	YES	CCDS54611.1			2029/4956									large_intestine(2)	2	c.(2029-2031)GTT>ATT			SMART_domains:SM00060,hmmpanther:PTHR10489:SF107,hmmpanther:PTHR10489,PROSITE_profiles:PS50853	roundabout 1 isoform a				ENSP00000420321		15/31									COSM3408885,COSM3408884,COSM3408886,COSM3408883	15/31	.		ENST00000464233	Transcript			activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	ENSG00000169855	g.chr3:78711202C>T	10249			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=ROBO1_HUMAN&rb=676&re=755&var=V677I	getma.org/pdb.php?prot=ROBO1_HUMAN&from=676&to=755&var=V677I	getma.org/?cm=var&var=hg19,3,78711202,C,T&fts=all	V677I	--	--	1																																		ROBO1_uc003dqb.2_Missense_Mutation_p.V638I|ROBO1_uc003dqc.2_Missense_Mutation_p.V641I|ROBO1_uc003dqd.2_Missense_Mutation_p.V641I|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc011bgl.1_Missense_Mutation_p.V249I|ROBO1_uc003dqf.1_Missense_Mutation_p.V356I	1,1,1,1	1		probably_damaging(0.97)	p.V677I	NM_002941	NP_002932		tolerated(0.46)	1,1,1,1	ROBO1_HUMAN	ROBO1	HGNC	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)			15	2237	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	UPI00000713D9	677			Extracellular (Potential).|Fibronectin type-III 2.		SNV	ROBO1,missense_variant,p.Val638Ile,ENST00000436010,;ROBO1,missense_variant,p.Val677Ile,ENST00000464233,NM_002941.3;ROBO1,missense_variant,p.Val641Ile,ENST00000495273,NM_001145845.1,NM_133631.3;ROBO1,missense_variant,p.Val641Ile,ENST00000467549,;ROBO1,non_coding_transcript_exon_variant,,ENST00000498428,;ROBO1,non_coding_transcript_exon_variant,,ENST00000484514,;	uc003dqe.2	c.2029G>A	2143/6742	2	2			c.2029G>A						3	SNP	c.(2029-2031)GTT>ATT	23	23			large_intestine(2)	2	Broad	roundabout 1 isoform a			78711202		0.483	ENSG00000169855	13294	g.chr3:78711202C>T	activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			693			693	26.374936	KEEP	5	5	-1	2	5	5	5	-1	26.429098	2	5	0.5625	1	0	0	0	0	1	0	0	0	--	--		0	T			ROBO1_uc003dqb.2_Missense_Mutation_p.V638I|ROBO1_uc003dqc.2_Missense_Mutation_p.V641I|ROBO1_uc003dqd.2_Missense_Mutation_p.V641I|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc011bgl.1_Missense_Mutation_p.V249I|ROBO1_uc003dqf.1_Missense_Mutation_p.V356I	167	GBM-19-2631-TP	p.V677I	C	AGGTGCAGAACAGCATTTCCC	NM_002941	NP_002932	78711202	Q9Y6N7	ROBO1_HUMAN	0		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	15	2237	-	T	T		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	Missense_Mutation	677			Extracellular (Potential).|Fibronectin type-III 2.			
ROBO1	0	broad.mit.edu	GRCh37	3	78734960	78734960	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-1836-01	TCGA-27-1836-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000464233.1:c.1278C>T	p.Tyr426=	p.Y426=	ENST00000464233	NM_002941.3	426	taC/taT	0			1			A	Y	uc003dqe.2	protein_coding	YES	CCDS54611.1			1278/4956									large_intestine(2)	2	c.(1276-1278)TAC>TAT			Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00406,SMART_domains:SM00408,Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR10489:SF107,hmmpanther:PTHR10489,PROSITE_profiles:PS50835	roundabout 1 isoform a				ENSP00000420321		31-Oct									COSM3408889,COSM3408888,COSM3408890,COSM3408887	31-Oct	.		ENST00000464233	Transcript			activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	ENSG00000169855	g.chr3:78734960G>A	10249			LOW								--	--	1																																		ROBO1_uc003dqb.2_Silent_p.Y387Y|ROBO1_uc003dqc.2_Silent_p.Y390Y|ROBO1_uc003dqd.2_Silent_p.Y390Y|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc003dqf.1_Silent_p.Y105Y	1,1,1,1	1			p.Y426Y	NM_002941	NP_002932			1,1,1,1	ROBO1_HUMAN	ROBO1	HGNC	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)			10	1486	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	UPI00000713D9	426			Extracellular (Potential).|Ig-like C2-type 4.		SNV	ROBO1,synonymous_variant,p.=,ENST00000436010,;ROBO1,synonymous_variant,p.=,ENST00000464233,NM_002941.3;ROBO1,synonymous_variant,p.=,ENST00000495273,NM_001145845.1,NM_133631.3;ROBO1,synonymous_variant,p.=,ENST00000467549,;ROBO1,non_coding_transcript_exon_variant,,ENST00000484514,;	uc003dqe.2	c.1278C>T	1392/6742	2	2			c.1278C>T						3	SNP	c.(1276-1278)TAC>TAT	34	34			large_intestine(2)	2	Broad	roundabout 1 isoform a			78734960		0.393	ENSG00000169855	13294	g.chr3:78734960G>A	activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			693			693	48.426083	KEEP	9	11	-1	27	22	9	11	-1	50.28585	27	22	0.310345	1	0	0	0	0	0	0	1	0	--	--		0	A			ROBO1_uc003dqb.2_Silent_p.Y387Y|ROBO1_uc003dqc.2_Silent_p.Y390Y|ROBO1_uc003dqd.2_Silent_p.Y390Y|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc003dqf.1_Silent_p.Y105Y	195	GBM-27-1836-TP	p.Y426Y	G	TCTGGCAGATGTAATAACCAA	NM_002941	NP_002932	78734960	Q9Y6N7	ROBO1_HUMAN	0		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	10	1486	-	A	A		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	Silent	426			Extracellular (Potential).|Ig-like C2-type 4.			
ROBO1	6091		GRCh37	3	78683176	78683176	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000464233.1:c.3390C>T	p.Asp1130=	p.D1130=	ENST00000464233	NM_002941.3	1130	gaC/gaT	0																																																																																																																																																																																																																																												
ROBO2	0	broad.mit.edu	GRCh37	3	77147196	77147196	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-3392-01	TCGA-41-3392-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000461745.1:c.93G>A	p.Pro31=	p.P31=	ENST00000461745	NM_002942.4	31	ccG/ccA	0			1			A	P	uc003dpy.3	protein_coding		CCDS43109.1			93/4137									lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11	c.(91-93)CCG>CCA			PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF27,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF07679,Superfamily_domains:SSF48726	roundabout, axon guidance receptor, homolog 2				ENSP00000417164		26-Feb	1.65E-05	0.000114							rs199878362,COSM3408877,COSM3408878	26-Feb	.		ENST00000461745	Transcript	1		apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	ENSG00000185008	g.chr3:77147196G>A	10250			LOW								--	--	1																																		ROBO2_uc003dpz.2_Silent_p.P31P|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Silent_p.P31P	0,1,1				p.P31P	NM_002942	NP_002933			0,1,1	ROBO2_HUMAN	ROBO2	HGNC	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)			2	736	+			UPI00003A9322	31			Ig-like C2-type 1.|Extracellular (Potential).		SNV	ROBO2,synonymous_variant,p.=,ENST00000461745,NM_002942.4;ROBO2,synonymous_variant,p.=,ENST00000487694,NM_001128929.2;ROBO2,synonymous_variant,p.=,ENST00000332191,;ROBO2,synonymous_variant,p.=,ENST00000602589,;ROBO2,non_coding_transcript_exon_variant,,ENST00000475034,;ROBO2,synonymous_variant,p.=,ENST00000473767,;	uc003dpy.3	c.93G>A	993/8946	2	2			c.93G>A						3	SNP	c.(91-93)CCG>CCA	25	25			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11	Broad	roundabout, axon guidance receptor, homolog 2			77147196		0.537	ENSG00000185008	13295	g.chr3:77147196G>A	apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			1049			1049	10.160125	KEEP	4	1	-1	13	11	4	1	-1	12.459048	13	11	0.192308	1	0	0	0	0	0	0	1	0	--	--		0	A			ROBO2_uc003dpz.2_Silent_p.P31P|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Silent_p.P31P	254	GBM-41-3392-TP	p.P31P	G	ACTTTCCCCCGCGGATTGTGG	NM_002942	NP_002933	77147196	Q9HCK4	ROBO2_HUMAN	0		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	2	736	+	A	A			Silent	31			Ig-like C2-type 1.|Extracellular (Potential).			
ROBO2	6092		GRCh37	3	77671470	77671470	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000487694.3:c.3695T>C	p.Val1232Ala	p.V1232A	ENST00000487694	NM_001128929.2	1232	gTt/gCt	0																																																																																																																																																																																																																																												
ROBO2	6092		GRCh37	3	77629222	77629222	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000487694.3:c.2501C>A	p.Thr834Asn	p.T834N	ENST00000487694	NM_001128929.2	834	aCc/aAc	0																																																																																																																																																																																																																																												
ROBO4	54538	broad.mit.edu	GRCh37	11	124765757	124765757	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0169-01	TCGA-06-0169-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306534.3:c.731T>G	p.Leu244Arg	p.L244R	ENST00000306534	NM_019055.5	244	cTg/cGg	0			1			C	L/R	uc001qbg.2	protein_coding	YES	CCDS8455.1			731/3024									ovary(1)|skin(1)	2	c.(730-732)CTG>CGG			hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF1	roundabout homolog 4, magic roundabout				ENSP00000304945		18-May									COSM2150267	18-May	.		ENST00000306534	Transcript			angiogenesis|cell differentiation	integral to membrane	receptor activity	ENSG00000154133	g.chr11:124765757A>C	17985			MODERATE		2.395	medium	getma.org/?cm=msa&ty=f&p=ROBO4_HUMAN&rb=226&re=347&var=L244R	NA	getma.org/?cm=var&var=hg19,11,124765757,A,C&fts=all	L244R	--	--	1																																		ROBO4_uc010sas.1_Missense_Mutation_p.L99R|ROBO4_uc001qbh.2_Missense_Mutation_p.L134R|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'Flank	1	1		probably_damaging(0.999)	p.L244R	NM_019055	NP_061928		deleterious(0)	1	ROBO4_HUMAN	ROBO4	HGNC	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	B4DYV8_HUMAN		5	871	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	UPI000004A023	244					SNV	ROBO4,missense_variant,p.Leu244Arg,ENST00000306534,NM_019055.5;ROBO4,missense_variant,p.Leu99Arg,ENST00000533054,;RP11-664I21.6,downstream_gene_variant,,ENST00000524433,;ROBO4,non_coding_transcript_exon_variant,,ENST00000526899,;ROBO4,non_coding_transcript_exon_variant,,ENST00000527279,;ROBO4,downstream_gene_variant,,ENST00000529941,;ROBO4,non_coding_transcript_exon_variant,,ENST00000532300,;ROBO4,upstream_gene_variant,,ENST00000534407,;ROBO4,upstream_gene_variant,,ENST00000532216,;ROBO4,upstream_gene_variant,,ENST00000525182,;ROBO4,downstream_gene_variant,,ENST00000533337,;	uc001qbg.2	c.731T>G	1217/4710	3	3			c.731T>G						11	SNP	c.(730-732)CTG>CGG	52	52			ovary(1)|skin(1)	2	Broad	roundabout homolog 4, magic roundabout			124765757		0.602	ENSG00000154133	13297	g.chr11:124765757A>C	angiogenesis|cell differentiation	integral to membrane	receptor activity							49.582502	KEEP	10	13	-1	45	46	10	13	-1	58.794993	45	46	0.2	1	0	0	0	0	1	0	0	0	--	--		0	C			ROBO4_uc010sas.1_Missense_Mutation_p.L99R|ROBO4_uc001qbh.2_Missense_Mutation_p.L134R|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'Flank	34	GBM-06-0169-TP	p.L244R	A	CACATTTTCCAGCTGAATTCG	NM_019055	NP_061928	124765757	Q8WZ75	ROBO4_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	5	871	-	C	C	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	Missense_Mutation	244						
ROCK1	6093	broad.mit.edu	GRCh37	18	18533573	18533573	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01	TCGA-06-0173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399799.2:c.4027C>T	p.Arg1343Trp	p.R1343W	ENST00000399799	NM_005406.2	1343	Cgg/Tgg	0			1			A	R/W	uc002kte.2	protein_coding	YES	CCDS11870.2			4027/4065									lung(2)|breast(2)|central_nervous_system(1)	5	c.(4027-4029)CGG>TGG			hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF28,PIRSF_domain:PIRSF037568	Rho-associated, coiled-coil containing protein				ENSP00000382697		32/33									COSM3403452	32/33	.		ENST00000399799	Transcript			actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	ENSG00000067900	g.chr18:18533573G>A	10251			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=ROCK1_HUMAN&rb=1317&re=1354&var=R1343W	NA	getma.org/?cm=var&var=hg19,18,18533573,G,A&fts=all	R1343W	--	--	1																																			1	1		probably_damaging(0.968)	p.R1343W	NM_005406	NP_005397		deleterious(0)	1	ROCK1_HUMAN	ROCK1	HGNC	Q13464	ROCK1_HUMAN					32	4968	-	Melanoma(1;0.165)		UPI000006F0A4	1343			Auto-inhibitory.		SNV	ROCK1,missense_variant,p.Arg1343Trp,ENST00000399799,NM_005406.2;ROCK1,missense_variant,p.Arg88Trp,ENST00000578051,;ROCK1,downstream_gene_variant,,ENST00000584687,;	uc002kte.2	c.4027C>T	4968/9484	2	2			c.4027C>T						18	SNP	c.(4027-4029)CGG>TGG	19	19			lung(2)|breast(2)|central_nervous_system(1)	5	Broad	Rho-associated, coiled-coil containing protein			18533573		0.358	ENSG00000067900	13298	g.chr18:18533573G>A	actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			408			408	-33.993278	KEEP	9	3	-1	208	145	9	3	-1	17.300463	208	145	0.036364	1	0	0	0	0	1	0	0	0	--	--		0	A				36	GBM-06-0173-TP	p.R1343W	G	ACCACTTTCCGGAAAGACTGA	NM_005406	NP_005397	18533573	Q13464	ROCK1_HUMAN	0			32	4968	-	A	A	Melanoma(1;0.165)		Missense_Mutation	1343			Auto-inhibitory.			
ROCK2	0	broad.mit.edu	GRCh37	2	11332301	11332301	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5134-01	TCGA-26-5134-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315872.6:c.4136G>A	p.Ser1379Asn	p.S1379N	ENST00000315872	NM_004850.3	1379	aGt/aAt	0			1			T	S/N	uc002rbd.1	protein_coding	YES	CCDS42654.1			4136/4167									stomach(2)|skin(2)	4	c.(4135-4137)AGT>AAT			hmmpanther:PTHR22988:SF24,hmmpanther:PTHR22988,PIRSF_domain:PIRSF037568	Rho-associated, coiled-coil containing protein				ENSP00000317985		32/33									COSM2157015,COSM2157014	32/33	.		ENST00000315872	Transcript			axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	ENSG00000134318	g.chr2:11332301C>T	10252			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=ROCK2_HUMAN&rb=1349&re=1388&var=S1379N	NA	getma.org/?cm=var&var=hg19,2,11332301,C,T&fts=all	S1379N	--	--	1																																			1,1	1		possibly_damaging(0.563)	p.S1379N	NM_004850	NP_004841		tolerated(0.06)	1,1	ROCK2_HUMAN	ROCK2	HGNC	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	Q14DU5_HUMAN,E9PF63_HUMAN		32	4585	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		UPI000034ECB0	1379					SNV	ROCK2,missense_variant,p.Ser1379Asn,ENST00000315872,NM_004850.3;ROCK2,missense_variant,p.Ser1136Asn,ENST00000401753,;ROCK2,downstream_gene_variant,,ENST00000460262,;ROCK2,downstream_gene_variant,,ENST00000493096,;	uc002rbd.1	c.4136G>A	4585/8292	2	2			c.4136G>A						2	SNP	c.(4135-4137)AGT>AAT	20	20			stomach(2)|skin(2)	4	Broad	Rho-associated, coiled-coil containing protein			11332301		0.368	ENSG00000134318	13299	g.chr2:11332301C>T	axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			587			587	360.450385	KEEP	63	66	-1	104	93	63	66	-1	363.263	104	93	0.398058	1	0	0	0	0	1	0	0	0	--	--		0	T				183	GBM-26-5134-TP	p.S1379N	C	AAGCTGTCGACTTGGCCGTCT	NM_004850	NP_004841	11332301	O75116	ROCK2_HUMAN	0		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	32	4585	-	T	T	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		Missense_Mutation	1379						
ROPN1L	83853		GRCh37	5	10461398	10461398	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000503804.1:c.520T>G	p.Tyr174Asp	p.Y174D	ENST00000503804		174	Tac/Gac	0																																																																																																																																																																																																																																												
ROR2	0	broad.mit.edu	GRCh37	9	94487296	94487296	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs138310082	byFrequency	TCGA-32-4210-01	TCGA-32-4210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375708.3:c.1480G>A	p.Gly494Ser	p.G494S	ENST00000375708	NM_004560.3	494	Ggc/Agc	0	T:0.0009	T:0.0015	1	T:0		T	G/S	uc004arj.1	protein_coding	YES	CCDS6691.1			1480/2832									lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20	c.(1480-1482)GGC>AGC			Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000624,Gene3D:3.30.200.20,Pfam_domain:PF07714,hmmpanther:PTHR24416:SF132,hmmpanther:PTHR24416,PROSITE_profiles:PS50011	receptor tyrosine kinase-like orphan receptor 2		T:0	T:0.0001	ENSP00000364860	T:0	9-Sep	9.88E-05	0.00068	8.65E-05	0.000116		3.01E-05		6.06E-05	rs138310082,COSM3413808	9-Sep	common_variant		ENST00000375708	Transcript	1	T:0.0004	negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	ENSG00000169071	g.chr9:94487296C>T	10257			MODERATE		1.085	low	getma.org/?cm=msa&ty=f&p=ROR2_HUMAN&rb=473&re=746&var=G494S	getma.org/pdb.php?prot=ROR2_HUMAN&from=473&to=746&var=G494S	getma.org/?cm=var&var=hg19,9,94487296,C,T&fts=all	G494S	--	--	1																																		ROR2_uc004ari.1_Missense_Mutation_p.G354S	0,1	1		benign(0.021)	p.G494S	NM_004560	NP_004551	T:0	tolerated(0.44)	0,1	ROR2_HUMAN	ROR2	HGNC	Q01974	ROR2_HUMAN					9	1679	-			UPI000013E8CA	494			Cytoplasmic (Potential).|Protein kinase.		SNV	ROR2,missense_variant,p.Gly494Ser,ENST00000375708,NM_004560.3;ROR2,missense_variant,p.Gly354Ser,ENST00000375715,;ROR2,non_coding_transcript_exon_variant,,ENST00000550066,;	uc004arj.1	c.1480G>A	1679/4096	2	2			c.1480G>A						9	SNP	c.(1480-1482)GGC>AGC	33	33			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20	Broad	receptor tyrosine kinase-like orphan receptor 2			94487296		0.602	ENSG00000169071	13308	g.chr9:94487296C>T	negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			461			461	1248.071365	KEEP	211	213	-1	109	124	211	213	-1	1258.613072	109	124	0.644991	1	0	0	0	0	1	0	0	0	--	--		0	T			ROR2_uc004ari.1_Missense_Mutation_p.G354S	245	GBM-32-4210-TP	p.G494S	C	GGGGCAGGGCCGAACAGGTGA	NM_004560	NP_004551	94487296	Q01974	ROR2_HUMAN	0			9	1679	-	T	T			Missense_Mutation	494			Cytoplasmic (Potential).|Protein kinase.			
RORB	0	broad.mit.edu	GRCh37	9	77249548	77249548	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	rs143312543		TCGA-28-5204-01	TCGA-28-5204-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396204.2:c.128G>T	p.Gly43Val	p.G43V	ENST00000396204		43	gGa/gTa	0			1			T	G/V	uc004aji.2	protein_coding					128/1413								p.G32E(1)	ovary(2)|lung(1)|skin(1)	4	c.(127-129)GGA>GTA			PROSITE_profiles:PS51030,hmmpanther:PTHR24082:SF206,hmmpanther:PTHR24082,PROSITE_patterns:PS00031,Pfam_domain:PF00105,Gene3D:3.30.50.10,SMART_domains:SM00399,Superfamily_domains:SSF57716,Prints_domain:PR00047	RAR-related orphan receptor B				ENSP00000379507		10-Mar									COSM3413724	10-Mar	.		ENST00000396204	Transcript			eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	ENSG00000198963	g.chr9:77249548G>T	10259			MODERATE		2.375	medium	getma.org/?cm=msa&ty=f&p=RORB_HUMAN&rb=19&re=88&var=G43V	getma.org/pdb.php?prot=RORB_HUMAN&from=19&to=88&var=G43V	getma.org/?cm=var&var=hg19,9,77249548,G,T&fts=all	G43V	--	--	1																																		RORB_uc004ajh.2_Missense_Mutation_p.G32V	1			probably_damaging(1)	p.G43V	NM_006914	NP_008845		deleterious(0)	1	RORB_HUMAN	RORB	HGNC	Q92753	RORB_HUMAN					3	177	+			UPI000022D774	43			Nuclear receptor.		SNV	RORB,missense_variant,p.Gly32Val,ENST00000376896,NM_006914.3;RORB,missense_variant,p.Gly43Val,ENST00000396204,;	uc004aji.2	c.128G>T	128/2996	1	1			c.128G>T						9	SNP	c.(127-129)GGA>GTA	2	2		p.G32E(1)	ovary(2)|lung(1)|skin(1)	4	Broad	RAR-related orphan receptor B			77249548		0.413	ENSG00000198963	13310	g.chr9:77249548G>T	eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding							56.465451	KEEP	10	16	0.384615385	13	31	10	16	0.384615385	57.254611	13	31	0.380952	1	0	0	0	0	1	0	0	0	--	--		0	T			RORB_uc004ajh.2_Missense_Mutation_p.G32V	215	GBM-28-5204-TP	p.G43V	G	TCCCTCAAGGGATTCTTTAGG	NM_006914	NP_008845	77249548	Q92753	RORB_HUMAN	0			3	177	+	T	T			Missense_Mutation	43			Nuclear receptor.			
RORC	0	broad.mit.edu	GRCh37	1	151789268	151789268	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-4068-01	TCGA-19-4068-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318247.6:c.170G>A	p.Arg57Gln	p.R57Q	ENST00000318247	NM_005060.3	57	cGg/cAg	0			1			T	R/Q	uc001ezh.2	protein_coding	YES	CCDS1004.1			170/1557									ovary(1)|skin(1)	2	c.(169-171)CGG>CAG			Gene3D:3.30.50.10,Pfam_domain:PF00105,Prints_domain:PR00047,PROSITE_patterns:PS00031,PROSITE_profiles:PS51030,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF196,SMART_domains:SM00399,Superfamily_domains:SSF57716	RAR-related orphan receptor C isoform a				ENSP00000327025		11-Apr									COSM2156485,COSM2156486	11-Apr	.		ENST00000318247	Transcript			regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	ENSG00000143365	g.chr1:151789268C>T	10260			MODERATE		4.46	high	getma.org/?cm=msa&ty=f&p=RORG_HUMAN&rb=29&re=98&var=R57Q	getma.org/pdb.php?prot=RORG_HUMAN&from=29&to=98&var=R57Q	getma.org/?cm=var&var=hg19,1,151789268,C,T&fts=all	R57Q	--	--	1																																		RORC_uc001ezg.2_Missense_Mutation_p.R36Q|RORC_uc010pdo.1_Missense_Mutation_p.R111Q|RORC_uc010pdp.1_Missense_Mutation_p.R57Q	1,1	1		probably_damaging(1)	p.R57Q	NM_005060	NP_005051		deleterious(0)	1,1	RORG_HUMAN	RORC	HGNC	P51449	RORG_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		Q6I9R9_HUMAN,D3DV25_HUMAN,B6ZGS6_HUMAN		4	278	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		UPI000006FBD8	57			Nuclear receptor.		SNV	RORC,missense_variant,p.Arg36Gln,ENST00000356728,NM_001001523.1;RORC,missense_variant,p.Arg111Gln,ENST00000392697,;RORC,missense_variant,p.Arg57Gln,ENST00000318247,NM_005060.3;RORC,upstream_gene_variant,,ENST00000480719,;	uc001ezh.2	c.170G>A	278/2180	1	1			c.170G>A						1	SNP	c.(169-171)CGG>CAG	5	5			ovary(1)|skin(1)	2	Broad	RAR-related orphan receptor C isoform a			151789268		0.637	ENSG00000143365	13311	g.chr1:151789268C>T	regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding							50.695176	KEEP	9	7	-1	14	12	9	7	-1	50.842308	14	12	0.432432	1	0	0	0	0	1	0	0	0	--	--		0	T			RORC_uc001ezg.2_Missense_Mutation_p.R36Q|RORC_uc010pdo.1_Missense_Mutation_p.R111Q|RORC_uc010pdp.1_Missense_Mutation_p.R57Q	168	GBM-19-4068-TP	p.R57Q	C	GCGCTGGCTCCGGCGGAAGAA	NM_005060	NP_005051	151789268	P51449	RORG_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.181)		4	278	-	T	T	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		Missense_Mutation	57			Nuclear receptor.			
RORC	0	broad.mit.edu	GRCh37	1	151787517	151787517	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318247.6:c.683G>A	p.Arg228Gln	p.R228Q	ENST00000318247	NM_005060.3	228	cGa/cAa	0		T:0	1	T:0		T	R/Q	uc001ezh.2	protein_coding	YES	CCDS1004.1			683/1557									ovary(1)|skin(1)	2	c.(682-684)CGA>CAA			hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF196	RAR-related orphan receptor C isoform a		T:0.001		ENSP00000327025	T:0	11-May	8.24E-06			0.000116					rs200978307,COSM1667948,COSM1667949	11-May	.		ENST00000318247	Transcript		T:0.0002	regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	ENSG00000143365	g.chr1:151787517C>T	10260			MODERATE		0.375	neutral	getma.org/?cm=msa&ty=f&p=RORG_HUMAN&rb=99&re=298&var=R228Q	NA	getma.org/?cm=var&var=hg19,1,151787517,C,T&fts=all	R228Q	--	--	1																																		RORC_uc001ezg.2_Missense_Mutation_p.R207Q|RORC_uc010pdo.1_Missense_Mutation_p.R282Q|RORC_uc010pdp.1_Missense_Mutation_p.R228Q	0,1,1	1		benign(0.001)	p.R228Q	NM_005060	NP_005051	T:0	tolerated(1)	0,1,1	RORG_HUMAN	RORC	HGNC	P51449	RORG_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		Q6I9R9_HUMAN,D3DV25_HUMAN,B6ZGS6_HUMAN		5	791	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		UPI000006FBD8	228			Hinge (Potential).		SNV	RORC,missense_variant,p.Arg207Gln,ENST00000356728,NM_001001523.1;RORC,missense_variant,p.Arg282Gln,ENST00000392697,;RORC,missense_variant,p.Arg228Gln,ENST00000318247,NM_005060.3;RORC,upstream_gene_variant,,ENST00000480719,;	uc001ezh.2	c.683G>A	791/2180	1	1			c.683G>A						1	SNP	c.(682-684)CGA>CAA	6	6			ovary(1)|skin(1)	2	Broad	RAR-related orphan receptor C isoform a			151787517		0.612	ENSG00000143365	13311	g.chr1:151787517C>T	regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding							109.027013	KEEP	27	17	-1	27	39	27	17	-1	109.858686	27	39	0.4	1	0	0	0	0	1	0	0	0	--	--		0	T			RORC_uc001ezg.2_Missense_Mutation_p.R207Q|RORC_uc010pdo.1_Missense_Mutation_p.R282Q|RORC_uc010pdp.1_Missense_Mutation_p.R228Q	265	GBM-76-4925-TP	p.R228Q	C	AAGTCCACATCGGTCAGGGGT	NM_005060	NP_005051	151787517	P51449	RORG_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.181)		5	791	-	T	T	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		Missense_Mutation	228			Hinge (Potential).			
RORC	6097		GRCh37	1	151789175	151789175	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000318247.6:c.263T>C	p.Leu88Pro	p.L88P	ENST00000318247	NM_005060.3	88	cTg/cCg	0																																																																																																																																																																																																																																												
ROS1	6098	broad.mit.edu	GRCh37	6	117679033	117679033	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-5412-01	TCGA-06-5412-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368508.3:c.3788C>A	p.Pro1263His	p.P1263H	ENST00000368508	NM_002944.2	1263	cCc/cAc	0			1			T	P/H	uc003pxp.1	protein_coding	YES	CCDS5116.1			3788/7044	T		GOPC|ROS1		glioblastoma|NSCLC				lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25	c.(3787-3789)CCC>CAC			Gene3D:2.120.10.30,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF304,Superfamily_domains:SSF63825	proto-oncogene c-ros-1 protein precursor				ENSP00000357494		24/43									COSM2153170,COSM2153171	24/43	.		ENST00000368508	Transcript			transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	ENSG00000047936	g.chr6:117679033G>T	10261			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=ROS1_HUMAN&rb=1201&re=1400&var=P1263H	NA	getma.org/?cm=var&var=hg19,6,117679033,G,T&fts=all	P1263H	--	--	1																																		ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	1,1	1		possibly_damaging(0.702)	p.P1263H	NM_002944	NP_002935		deleterious(0.02)	1,1	ROS1_HUMAN	ROS1	HGNC	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)			24	3987	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	UPI000013D467	1263			Extracellular (Potential).		SNV	ROS1,missense_variant,p.Pro1263His,ENST00000368508,NM_002944.2;ROS1,missense_variant,p.Pro1258His,ENST00000368507,;GOPC,intron_variant,,ENST00000467125,;	uc003pxp.1	c.3788C>A	3987/7435	2	2			c.3788C>A	T		GOPC|ROS1		glioblastoma|NSCLC	6	SNP	c.(3787-3789)CCC>CAC	28	28			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25	Broad	proto-oncogene c-ros-1 protein precursor			117679033		0.318	ENSG00000047936	13312	g.chr6:117679033G>T	transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			1038			1038	15.305671	KEEP	2	6	0.25	15	16	2	6	0.25	18.235038	15	16	0.2	1	0	0	0	0	1	0	0	0	--	--		0	T			ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	95	GBM-06-5412-TP	p.P1263H	G	CACCTCTCTGGGATATTTCAC	NM_002944	NP_002935	117679033	P08922	ROS_HUMAN	0		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	24	3987	-	T	T		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	Missense_Mutation	1263			Extracellular (Potential).			
ROS1	0	broad.mit.edu	GRCh37	6	117638305	117638305	+	splice_donor_variant	Splice_Site	SNP	C	C	T			TCGA-26-6173-01	TCGA-26-6173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368508.3:c.6135+1G>A		p.X2045_splice	ENST00000368508	NM_002944.2			0			1			T		uc003pxp.1	protein_coding	YES	CCDS5116.1			6135/7044	T		GOPC|ROS1		glioblastoma|NSCLC				lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25	c.e38+1				proto-oncogene c-ros-1 protein precursor				ENSP00000357494			8.24E-06			0.000116					rs759495322,COSM3157668,COSM3157669		.		ENST00000368508	Transcript			transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	ENSG00000047936	g.chr6:117638305C>T	10261			HIGH	38/42							--	--	1																																		ROS1_uc011ebi.1_Splice_Site	0,1,1	1			p.T2045_splice	NM_002944	NP_002935			0,1,1	ROS1_HUMAN	ROS1	HGNC	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)			38	6334	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	UPI000013D467						SNV	ROS1,splice_donor_variant,,ENST00000368508,NM_002944.2;ROS1,splice_donor_variant,,ENST00000368507,;GOPC,downstream_gene_variant,,ENST00000467125,;	uc003pxp.1	c.6135_splice	-/7435	5	1			c.6135_splice	T		GOPC|ROS1		glioblastoma|NSCLC	6	SNP	c.e38+1	8	8			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25	Broad	proto-oncogene c-ros-1 protein precursor			117638305		0.403	ENSG00000047936	13312	g.chr6:117638305C>T	transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		(22RV1-Tumor)	1038		(22RV1-Tumor)	1038	96.112468	KEEP	20	24	-1	52	58	20	24	-1	102.051637	52	58	0.279412	1	0	0	0	0	0	0	0	1	--	--		0	T			ROS1_uc011ebi.1_Splice_Site	187	GBM-26-6173-TP	p.T2045_splice	C	CAACTGCCTACCGTTGCCATC	NM_002944	NP_002935	117638305	P08922	ROS_HUMAN	0		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	38	6334	-	T	T		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	Splice_Site							
ROS1	0	broad.mit.edu	GRCh37	6	117686282	117686282	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-41-3392-01	TCGA-41-3392-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368508.3:c.3059delC	p.Pro1020LeufsTer60	p.P1020Lfs*60	ENST00000368508	NM_002944.2	1020	cCt/ct	0			1			-	P/X	uc003pxp.1	protein_coding	YES	CCDS5116.1			3059/7044	T		GOPC|ROS1		glioblastoma|NSCLC				lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25	c.(3058-3060)CCTfs			Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF304,SMART_domains:SM00060,Superfamily_domains:SSF49265	proto-oncogene c-ros-1 protein precursor				ENSP00000357494		20/43										20/43	.		ENST00000368508	Transcript			transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	ENSG00000047936	g.chr6:117686282delG	10261			HIGH								--	--	1																																		ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron		1			p.P1020fs	NM_002944	NP_002935				ROS1_HUMAN	ROS1	HGNC	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)			20	3258	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	UPI000013D467	1020			Fibronectin type-III 4.|Extracellular (Potential).		deletion	ROS1,frameshift_variant,p.Pro1020LeufsTer60,ENST00000368508,NM_002944.2;ROS1,frameshift_variant,p.Pro1015LeufsTer60,ENST00000368507,;GOPC,intron_variant,,ENST00000467125,;	uc003pxp.1	c.3059delC	3258/7435	5	5			c.3059delC	T		GOPC|ROS1		glioblastoma|NSCLC	6	DEL	c.(3058-3060)CCTfs	12	12			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25	Broad	proto-oncogene c-ros-1 protein precursor			117686282		0.393	ENSG00000047936	13312	g.chr6:117686282delG	transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			1038			1038														0.21	1	1	0	1	0	0	0	0	0	--	--		0	-			ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	254	GBM-41-3392-TP	p.P1020fs	G	GTAGGTATAAGGAGTGACAGA	NM_002944	NP_002935	117686282	P08922	ROS_HUMAN	0		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	20	3258	-	-	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	Frame_Shift_Del	1020			Fibronectin type-III 4.|Extracellular (Potential).			
RP1	6101	broad.mit.edu	GRCh37	8	55541829	55541829	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-2485-01	TCGA-02-2485-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000220676.1:c.5387C>T	p.Thr1796Met	p.T1796M	ENST00000220676	NM_006269.1	1796	aCg/aTg	0			1			T	T/M	uc003xsd.1	protein_coding	YES	CCDS6160.1			5387/6471								p.T1796T(1)	skin(7)|ovary(4)|pancreas(1)	12	c.(5386-5388)ACG>ATG			hmmpanther:PTHR23005:SF4,hmmpanther:PTHR23005	retinitis pigmentosa RP1 protein				ENSP00000220676		4-Apr	1.65E-05			0.000119				6.13E-05	rs764959789,COSM1100569	4-Apr	.		ENST00000220676	Transcript	1		axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	ENSG00000104237	g.chr8:55541829C>T	10263			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=RP1_HUMAN&rb=1736&re=1965&var=T1796M	NA	getma.org/?cm=var&var=hg19,8,55541829,C,T&fts=all	T1796M	--	--	1																																		RP1_uc011ldy.1_Intron	0,1	1		possibly_damaging(0.742)	p.T1796M	NM_006269	NP_006260		deleterious(0.03)	0,1	RP1_HUMAN	RP1	HGNC	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		A0FDN2_HUMAN		4	5535	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	UPI000013455B	1796					SNV	RP1,missense_variant,p.Thr1796Met,ENST00000220676,NM_006269.1;	uc003xsd.1	c.5387C>T	5535/7100	2	2			c.5387C>T						8	SNP	c.(5386-5388)ACG>ATG	31	31		p.T1796T(1)	skin(7)|ovary(4)|pancreas(1)	12	Broad	retinitis pigmentosa RP1 protein			55541829		0.448	ENSG00000104237	13313	g.chr8:55541829C>T	axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	Colon(91;1014 1389 7634 14542 40420)			Colon(91;1014 1389 7634 14542 40420)			67.307241	KEEP	8	16	-1	16	27	8	16	-1	68.643434	16	27	0.348485	1	0	0	0	0	1	0	0	0	--	--		0	T			RP1_uc011ldy.1_Intron	7	GBM-02-2485-TP	p.T1796M	C	CCAGGCCCAACGATGGATGAA	NM_006269	NP_006260	55541829	P56715	RP1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	5535	+	T	T		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	Missense_Mutation	1796						
RP1	6101	broad.mit.edu	GRCh37	8	55539225	55539225	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0185-01	TCGA-06-0185-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000220676.1:c.2783C>A	p.Thr928Asn	p.T928N	ENST00000220676	NM_006269.1	928	aCt/aAt	0			1			A	T/N	uc003xsd.1	protein_coding	YES	CCDS6160.1			2783/6471									skin(7)|ovary(4)|pancreas(1)	12	c.(2782-2784)ACT>AAT			hmmpanther:PTHR23005:SF4,hmmpanther:PTHR23005	retinitis pigmentosa RP1 protein				ENSP00000220676		4-Apr									COSM3413067	4-Apr	.		ENST00000220676	Transcript	1		axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	ENSG00000104237	g.chr8:55539225C>A	10263			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=RP1_HUMAN&rb=755&re=1200&var=T928N	NA	getma.org/?cm=var&var=hg19,8,55539225,C,A&fts=all	T928N	--	--	1																																		RP1_uc011ldy.1_Intron	1	1		benign(0.068)	p.T928N	NM_006269	NP_006260		tolerated(0.28)	1	RP1_HUMAN	RP1	HGNC	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		A0FDN2_HUMAN		4	2931	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	UPI000013455B	928					SNV	RP1,missense_variant,p.Thr928Asn,ENST00000220676,NM_006269.1;	uc003xsd.1	c.2783C>A	2931/7100	2	2			c.2783C>A						8	SNP	c.(2782-2784)ACT>AAT	45	45			skin(7)|ovary(4)|pancreas(1)	12	Broad	retinitis pigmentosa RP1 protein			55539225		0.328	ENSG00000104237	13313	g.chr8:55539225C>A	axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	Colon(91;1014 1389 7634 14542 40420)			Colon(91;1014 1389 7634 14542 40420)			2.668818	KEEP	6	1	0.142857143	46	37	6	1	0.142857143	16.435992	46	37	0.0875	1	0	0	0	0	1	0	0	0	--	--		0	A			RP1_uc011ldy.1_Intron	40	GBM-06-0185-TP	p.T928N	C	CCATATCCAACTTTAAAGCCT	NM_006269	NP_006260	55539225	P56715	RP1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	2931	+	A	A		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	Missense_Mutation	928						
RP1	0	broad.mit.edu	GRCh37	8	55537403	55537403	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-4157-01	TCGA-14-4157-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000220676.1:c.961A>G	p.Lys321Glu	p.K321E	ENST00000220676	NM_006269.1	321	Aaa/Gaa	0			1			G	K/E	uc003xsd.1	protein_coding	YES	CCDS6160.1			961/6471									skin(7)|ovary(4)|pancreas(1)	12	c.(961-963)AAA>GAA			hmmpanther:PTHR23005:SF4,hmmpanther:PTHR23005	retinitis pigmentosa RP1 protein				ENSP00000220676		4-Apr									COSM3413065	4-Apr	.		ENST00000220676	Transcript	1		axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	ENSG00000104237	g.chr8:55537403A>G	10263			MODERATE		2.585	medium	getma.org/?cm=msa&ty=f&p=RP1_HUMAN&rb=229&re=428&var=K321E	NA	getma.org/?cm=var&var=hg19,8,55537403,A,G&fts=all	K321E	--	--	1																																		RP1_uc011ldy.1_Intron	1	1		probably_damaging(0.999)	p.K321E	NM_006269	NP_006260		deleterious(0)	1	RP1_HUMAN	RP1	HGNC	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		A0FDN2_HUMAN		4	1109	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	UPI000013455B	321					SNV	RP1,missense_variant,p.Lys321Glu,ENST00000220676,NM_006269.1;	uc003xsd.1	c.961A>G	1109/7100	3	3			c.961A>G						8	SNP	c.(961-963)AAA>GAA	5	5			skin(7)|ovary(4)|pancreas(1)	12	Broad	retinitis pigmentosa RP1 protein			55537403		0.323	ENSG00000104237	13313	g.chr8:55537403A>G	axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	Colon(91;1014 1389 7634 14542 40420)			Colon(91;1014 1389 7634 14542 40420)			122.738822	KEEP	11	24	-1	23	29	11	24	-1	123.259817	23	29	0.414634	1	0	0	0	0	1	0	0	0	--	--		0	G			RP1_uc011ldy.1_Intron	152	GBM-14-4157-TP	p.K321E	A	TGATATTGAGAAATCAATTAT	NM_006269	NP_006260	55537403	P56715	RP1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	1109	+	G	G		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	Missense_Mutation	321						
RP1	6101		GRCh37	8	55533600	55533600	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000220676.1:c.74G>A	p.Arg25His	p.R25H	ENST00000220676	NM_006269.1	25	cGc/cAc	0																																																																																																																																																																																																																																												
RP11-1007I13.4	0	broad.mit.edu	GRCh37	X	151283896	151283896	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T			TCGA-14-0740-01	TCGA-14-0740-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000427663.2:n.322G>A		*108*	ENST00000427663				0			1			T		uc004ffj.2	processed_transcript	YES														0	c.(115-117)GTG>GTA				melanoma antigen family A, 5						4-Apr									COSM3406082	4-Apr	.		ENST00000509345	Transcript						ENSG00000266560	g.chrX:151283896C>T				MODIFIER								--	--	1																																			1				p.V39V	NM_021049	NP_066387			1		RP11-1007I13.4	Clone_based_vega_gene	P43359	MAGA5_HUMAN					3	322	-	Acute lymphoblastic leukemia(192;6.56e-05)			39			MAGE.		SNV	RP11-1007I13.4,non_coding_transcript_exon_variant,,ENST00000509345,;RP11-1007I13.4,non_coding_transcript_exon_variant,,ENST00000583636,;MAGEA5,non_coding_transcript_exon_variant,,ENST00000427663,;MAGEA5,non_coding_transcript_exon_variant,,ENST00000446757,;	uc004ffj.2	c.117G>A	441/871	1	1			c.117G>A						23	SNP	c.(115-117)GTG>GTA	7	7				0	Broad	melanoma antigen family A, 5			151283896		0.647	ENSG00000266560	8998	g.chrX:151283896C>T										66.957943	KEEP	13	12	-1	20	17	13	12	-1	67.258791	20	17	0.423729	1	0	0	0	0	0	0	1	0	--	--		0	T				132	GBM-14-0740-TP	p.V39V	C	AGGAGGAGGACACAGCCTCCT	NM_021049	NP_066387	151283896	P43359	MAGA5_HUMAN	0			3	322	-	T	T	Acute lymphoblastic leukemia(192;6.56e-05)		Silent	39			MAGE.			
RP11-1055B8.7			GRCh37	17	79412126	79412126	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000307745.7:c.2757C>T	p.Leu919=	p.L919=	ENST00000307745		919	ctC/ctT	0																																																																																																																																																																																																																																												
RP11-192H23.4	0	broad.mit.edu	GRCh37	17	26939067	26939067	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301037.5:c.688G>A	p.Val230Met	p.V230M	ENST00000301037	NM_001174103.1	230	Gtg/Atg	0			1			T		uc002hbr.1	protein_coding	YES				-/1009										0	c.(688-690)GTG>ATG				uncharacterized serine/threonine-protein kinase				ENSP00000431165											COSM3402692,COSM3402693		.		ENST00000531839	Transcript						ENSG00000258472	g.chr17:26939067C>T				MODIFIER	7-Apr	1.28	low	getma.org/?cm=msa&ty=f&p=SG494_HUMAN&rb=107&re=272&var=V230M	getma.org/pdb.php?prot=SG494_HUMAN&from=107&to=272&var=V230M	getma.org/?cm=var&var=hg19,17,26939067,C,T&fts=all	V230M	--	--	1																																		SGK494_uc010waq.1_Intron|SGK494_uc010war.1_RNA|uc010crq.1_5'Flank|uc002hbs.1_RNA	1,1				p.V230M	NM_144610	NP_653211			1,1		RP11-192H23.4	Clone_based_vega_gene					E9PMD0_HUMAN		7	720	-			UPI0001F77E26						SNV	RP11-192H23.4,missense_variant,p.Met171Ile,ENST00000534850,;SGK494,missense_variant,p.Val230Met,ENST00000301037,NM_001174103.1;RP11-192H23.4,intron_variant,,ENST00000531839,;RP11-192H23.4,intron_variant,,ENST00000577790,;KIAA0100,downstream_gene_variant,,ENST00000528896,NM_014680.3;KIAA0100,downstream_gene_variant,,ENST00000544884,;KIAA0100,downstream_gene_variant,,ENST00000389003,;SGK494,upstream_gene_variant,,ENST00000578956,;SGK494,downstream_gene_variant,,ENST00000530121,;SGK494,downstream_gene_variant,,ENST00000525510,;SPAG5-AS1,non_coding_transcript_exon_variant,,ENST00000424210,;SPAG5-AS1,intron_variant,,ENST00000414744,;SPAG5-AS1,intron_variant,,ENST00000554154,;RP11-192H23.6,downstream_gene_variant,,ENST00000579019,;SGK494,intron_variant,,ENST00000526073,;SGK494,downstream_gene_variant,,ENST00000469832,;KIAA0100,downstream_gene_variant,,ENST00000579924,;RP11-192H23.4,missense_variant,p.Met171Ile,ENST00000584196,;RP11-192H23.4,missense_variant,p.Met171Ile,ENST00000481916,;SGK494,missense_variant,p.Val48Met,ENST00000494272,;SGK494,non_coding_transcript_exon_variant,,ENST00000581199,;SGK494,upstream_gene_variant,,ENST00000579457,;SPAG5-AS1,upstream_gene_variant,,ENST00000584675,;SGK494,downstream_gene_variant,,ENST00000461399,;SGK494,downstream_gene_variant,,ENST00000527918,;SGK494,downstream_gene_variant,,ENST00000527863,;KIAA0100,downstream_gene_variant,,ENST00000583860,;	uc002hbr.1	c.688G>A	-/1033	2	2			c.688G>A						17	SNP	c.(688-690)GTG>ATG	17	17				0	Broad	uncharacterized serine/threonine-protein kinase			26939067		0.443	ENSG00000258472	13990	g.chr17:26939067C>T						78			78	-11.850599	KEEP	10	6	-1	95	113	10	6	-1	25.628105	95	113	0.063492	1	0	0	0	0	1	0	0	0	--	--		0	T			SGK494_uc010waq.1_Intron|SGK494_uc010war.1_RNA|uc010crq.1_5'Flank|uc002hbs.1_RNA	207	GBM-28-1753-TP	p.V230M	C	TCTACCTTCACATCTCGATGC	NM_144610	NP_653211	26939067			0			7	720	-	T	T			Missense_Mutation							
RP11-196E1.3	0	broad.mit.edu	GRCh37	11	119510587	119510587	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A			TCGA-06-6695-01	TCGA-06-6695-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000532153.1:n.896G>A		*299*	ENST00000532153				0		A:0.0008	1	A:0		A		uc001pwu.1	antisense	YES														0	c.(1138-1140)ACG>ATG				poliovirus receptor-related 1 isoform 2		A:0			A:0	7-May	8.24E-05	9.99E-05				1.52E-05		0.000485	rs545782858,COSM3397472	7-May	common_variant		ENST00000532153	Transcript		A:0.0006	adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	ENSG00000254561	g.chr11:119510587G>A				MODIFIER		-0.49	neutral	getma.org/?cm=msa&ty=f&p=Q6SYC0_HUMAN&rb=1&re=123&var=T45M	NA	getma.org/?cm=var&var=hg19,11,119510587,G,A&fts=all	T45M	--	--	1																																			0,1	1			p.T380M	NM_203285	NP_976030	A:0.002		0,1		RP11-196E1.3	Clone_based_vega_gene	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)			6	1311	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		Error:Variant_position_missing_in_Q15223_after_alignment					SNV	PVRL1,missense_variant,p.Thr380Met,ENST00000341398,NM_203285.1;RP11-196E1.3,non_coding_transcript_exon_variant,,ENST00000532153,;RP11-196E1.3,downstream_gene_variant,,ENST00000601999,;PVRL1,upstream_gene_variant,,ENST00000531468,;	uc001pwu.1	c.1139C>T	896/4476	2	2			c.1139C>T						11	SNP	c.(1138-1140)ACG>ATG	28	28				0	Broad	poliovirus receptor-related 1 isoform 2			119510587		0.622	ENSG00000254561	12629	g.chr11:119510587G>A	adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity							84.575782	KEEP	21	13	-1	34	28	21	13	-1	85.277299	34	28	0.4	1	0	0	0	0	1	0	0	0	--	--		0	A				110	GBM-06-6695-TP	p.T380M	G	GGCCCCATCCGTCTCCGGTGG	NM_203285	NP_976030	119510587	Q15223	PVRL1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	1311	-	A	A		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	Missense_Mutation	Error:Variant_position_missing_in_Q15223_after_alignment						
RP11-252A24.2			GRCh37	16	74371421	74371421	+	downstream_gene_variant	3'Flank	SNP	C	C	T			TCGA-41-6646-01	TCGA-41-6646-01																							ENST00000429810				0																																																																																																																																																																																																																																												
RP11-29G8.3	0	broad.mit.edu	GRCh37	13	76301190	76301190	+	non_coding_transcript_exon_variant,non_coding_transcript_variant	RNA	SNP	G	G	A	rs140368500	byFrequency	TCGA-28-2502-01	TCGA-28-2502-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000563635.1:n.801G>A		*267*	ENST00000563635				0	A:0	A:0.0008	1	A:0		A		uc010thv.1	processed_transcript	YES													large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5	c.(322-324)GTC>ATC				LIM domain only 7 isoform 1		A:0	A:0.0002		A:0	15-Oct	0.000255	0.000305				0.000336		0.000387	rs140368500,COSM196237,COSM1949266	15-Oct	.		ENST00000563635	Transcript		A:0.0002		cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	ENSG00000261553	g.chr13:76301190G>A				MODIFIER		-1.005	neutral	getma.org/?cm=msa&ty=f&p=E9PMP7_HUMAN&rb=16&re=129&var=V56I	getma.org/pdb.php?prot=E9PMP7_HUMAN&from=16&to=129&var=V56I	getma.org/?cm=var&var=hg19,13,76301190,G,A&fts=all	V56I	--	--	1																																		LMO7_uc001vjt.1_Missense_Mutation_p.V56I	0,1,1	1			p.V108I	NM_005358	NP_005349	A:0		0,1,1		RP11-29G8.3	Clone_based_vega_gene	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)			4	1582	+		Breast(118;0.0992)		108			CH.		SNV	LMO7,missense_variant,p.Val108Ile,ENST00000357063,;LMO7,missense_variant,p.Val108Ile,ENST00000377534,;LMO7,missense_variant,p.Val108Ile,ENST00000341547,NM_005358.5;LMO7,missense_variant,p.Val56Ile,ENST00000377499,;RP11-29G8.3,non_coding_transcript_exon_variant,,ENST00000563635,;LMO7,non_coding_transcript_exon_variant,,ENST00000533305,;	uc010thv.1	c.322G>A	801/4128	2	2			c.322G>A						13	SNP	c.(322-324)GTC>ATC	47	47			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5	Broad	LIM domain only 7 isoform 1			76301190		0.303	ENSG00000261553	8698	g.chr13:76301190G>A		cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding							71.720562	KEEP	14	17	-1	31	39	14	17	-1	74.026731	31	39	0.320988	1	0	0	0	0	1	0	0	0	--	--		0	A			LMO7_uc001vjt.1_Missense_Mutation_p.V56I	210	GBM-28-2502-TP	p.V108I	G	TAAACCTGGCGTCATTAAGAA	NM_005358	NP_005349	76301190	Q8WWI1	LMO7_HUMAN	0		GBM - Glioblastoma multiforme(99;0.0109)	4	1582	+	A	A		Breast(118;0.0992)	Missense_Mutation	108			CH.			
RP11-2F9.3			GRCh37	15	22440504	22440504	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000460876.2:n.345T>C		p.*115*	ENST00000460876				0																																																																																																																																																																																																																																												
RP11-2F9.3			GRCh37	15	22440477	22440477	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000460876.2:n.372A>T		p.*124*	ENST00000460876				0																																																																																																																																																																																																																																												
RP11-307N16.6	0	broad.mit.edu	GRCh37	13	24871773	24871773	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	C	C	T			TCGA-06-6390-01	TCGA-06-6390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382141.4:c.3117C>T	p.Asp1039=	p.D1039=	ENST00000382141		1039	gaC/gaT	0	T:0.0005	T:0.0008	1	T:0		T	D	uc001upg.1	protein_coding		CCDS9305.1			1608/1959									skin(2)|ovary(1)	3	c.(1606-1608)GAC>GAT			Superfamily_domains:SSF50729,SMART_domains:SM00233,Pfam_domain:PF00169,Gene3D:2.30.29.30,hmmpanther:PTHR22826:SF103,hmmpanther:PTHR22826,PROSITE_profiles:PS50003	spermatogenesis associated 13		T:0	T:0.0001	ENSP00000371527	T:0	12-Oct	5.77E-05	9.62E-05	0.000173			6.00E-05			rs368299819,COSM2153433,COSM2153432	12-Oct	.		ENST00000382095	Transcript		T:0.0002	cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	ENSG00000182957	g.chr13:24871773C>T	23222			LOW								--	--	1																																		SPATA13_uc001upd.1_Silent_p.D1161D|C1QTNF9_uc001upe.2_RNA|SPATA13_uc010tcy.1_Silent_p.D482D|SPATA13_uc010tcz.1_Silent_p.D420D|SPATA13_uc010tda.1_Silent_p.D480D|SPATA13_uc001uph.2_Silent_p.D458D|SPATA13_uc010tdb.1_Silent_p.D396D|SPATA13_uc009zzz.1_Intron|SPATA13_uc001upi.1_Silent_p.D42D	0,1,1				p.D536D	NM_153023	NP_694568	T:0		0,1,1	SPT13_HUMAN	SPATA13	HGNC	Q96N96	SPT13_HUMAN		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)			10	2015	+		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)	UPI000007013B	536			PH.		SNV	SPATA13,synonymous_variant,p.=,ENST00000424834,NM_001286792.1;SPATA13,synonymous_variant,p.=,ENST00000382108,NM_001166271.1,NM_001286793.1;SPATA13,synonymous_variant,p.=,ENST00000382095,NM_153023.2;SPATA13,synonymous_variant,p.=,ENST00000399949,NM_001286795.1;SPATA13,synonymous_variant,p.=,ENST00000409126,;SPATA13,synonymous_variant,p.=,ENST00000343003,NM_001286794.1;SPATA13,synonymous_variant,p.=,ENST00000434675,;RP11-307N16.6,synonymous_variant,p.=,ENST00000382141,;	uc001upg.1	c.1608C>T	2015/6665	2	2			c.1608C>T						13	SNP	c.(1606-1608)GAC>GAT	24	24			skin(2)|ovary(1)	3	Broad	spermatogenesis associated 13			24871773		0.532	ENSG00000182957	14771	g.chr13:24871773C>T	cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity							56.360768	KEEP	10	13	-1	26	36	10	13	-1	59.772699	26	36	0.276316	1	0	0	0	0	0	0	1	0	--	--		0	T			SPATA13_uc001upd.1_Silent_p.D1161D|C1QTNF9_uc001upe.2_RNA|SPATA13_uc010tcy.1_Silent_p.D482D|SPATA13_uc010tcz.1_Silent_p.D420D|SPATA13_uc010tda.1_Silent_p.D480D|SPATA13_uc001uph.2_Silent_p.D458D|SPATA13_uc010tdb.1_Silent_p.D396D|SPATA13_uc009zzz.1_Intron|SPATA13_uc001upi.1_Silent_p.D42D	106	GBM-06-6390-TP	p.D536D	C	GGACCACAGACGAGGTTTATT	NM_153023	NP_694568	24871773	Q96N96	SPT13_HUMAN	0		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)	10	2015	+	T	T		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)	Silent	536			PH.			
RP11-385D13.1	0	broad.mit.edu	GRCh37	17	15517208	15517208	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395906.3:c.810G>A	p.Gly270=	p.G270=	ENST00000395906	NM_006382.3	270	ggG/ggA	0			1			T	G	uc002gor.1	protein_coding	YES				1740/2862									ovary(2)|skin(1)	3	c.(1738-1740)GGG>GGA			hmmpanther:PTHR19872,hmmpanther:PTHR19872:SF7	SubName: Full=Putative uncharacterized protein; Flags: Fragment;				ENSP00000402644		17-Sep	8.25E-06	0.000113							rs779865994,COSM2154701,COSM2154702	17-Sep	.		ENST00000455584	Transcript			histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid	cytoplasm|plasma membrane|PML body	DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding	ENSG00000251537	g.chr17:15517208C>T				LOW								--	--	1																																		CDRT1_uc002gov.3_Silent_p.G270G	0,1,1				p.G580G					0,1,1		RP11-385D13.1	Clone_based_vega_gene	O95361	TRI16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)	H0Y626_HUMAN,J3QKY5_HUMAN		9	2077	-			UPI000268AF94	Error:Variant_position_missing_in_O95361_after_alignment					SNV	RP11-385D13.1,synonymous_variant,p.=,ENST00000455584,;CDRT1,synonymous_variant,p.=,ENST00000395906,NM_006382.3;CDRT1,synonymous_variant,p.=,ENST00000261644,;	uc002gor.1	c.1740G>A	1784/5514	2	2			c.1740G>A						17	SNP	c.(1738-1740)GGG>GGA	17	17			ovary(2)|skin(1)	3	Broad	SubName: Full=Putative uncharacterized protein; Flags: Fragment;			15517208		0.488	ENSG00000251537	16241	g.chr17:15517208C>T	histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid	cytoplasm|plasma membrane|PML body	DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding							209.470742	KEEP	51	51	-1	106	104	51	51	-1	209.551714	106	104	0.526718	1	0	0	0	0	0	0	1	0	--	--		0	T			CDRT1_uc002gov.3_Silent_p.G270G	138	GBM-14-0813-TP	p.G580G	C	ATTTGCTGAACCCAGAAGACA			15517208	O95361	TRI16_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)	9	2077	-	T	T			Silent	Error:Variant_position_missing_in_O95361_after_alignment						
RP11-69H14.6	0	broad.mit.edu	GRCh37	15	22332433	22332433	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A			TCGA-19-2624-01	TCGA-19-2624-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000558896.1:n.240G>A		*80*	ENST00000558896				0		A:0	1	A:0		A		uc001yuc.1	sense_overlapping	YES													ovary(4)|skin(1)	5	c.(-743--739)ACGTG>ACATG				olfactory receptor, family 4, subfamily N,		A:0			A:0	7-Mar									rs556704891	7-Mar	.		ENST00000558896	Transcript		A:0.0002	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	ENSG00000259176	g.chr15:22332433G>A				MODIFIER								--	--	1																																		LOC727924_uc001ytz.1_Intron|LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron		1				NM_001005241	NP_001005241	A:0.001				RP11-69H14.6	Clone_based_vega_gene	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)			3	240	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)							SNV	RP11-69H14.6,non_coding_transcript_exon_variant,,ENST00000558896,;RP11-69H14.6,non_coding_transcript_exon_variant,,ENST00000560134,;RP11-69H14.6,intron_variant,,ENST00000558312,;RP11-69H14.6,intron_variant,,ENST00000560193,;RP11-69H14.6,intron_variant,,ENST00000557817,;RP11-69H14.6,intron_variant,,ENST00000558798,;RP11-69H14.6,intron_variant,,ENST00000557855,;RP11-69H14.6,intron_variant,,ENST00000559392,;OR4Q1P,upstream_gene_variant,,ENST00000557009,;	uc001yuc.1	c.-741G>A	240/2317	2	2			c.-741G>A						15	SNP	c.(-743--739)ACGTG>ACATG	41	41			ovary(4)|skin(1)	5	Broad	olfactory receptor, family 4, subfamily N,			22332433		0.328	ENSG00000259176	10888	g.chr15:22332433G>A	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity							51.408023	KEEP	29	16	-1	176	165	29	16	-1	101.207861	176	165	0.116279	1	0	0	0	0	0	0	0	0	--	--		0	A			LOC727924_uc001ytz.1_Intron|LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron	164	GBM-19-2624-TP		G	AGATTCTAACGTGACAGAACT	NM_001005241	NP_001005241	22332433	Q8N0Y3	OR4N4_HUMAN	0	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	3	240	+	A	A		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	Translation_Start_Site							
RP11-71H17.7	0	broad.mit.edu	GRCh37	3	124438292	124438292	+	upstream_gene_variant	5'Flank	SNP	T	T	C			TCGA-06-0128-01	TCGA-06-0128-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.				ENST00000568966				0			1			C		uc003ehg.2	sense_overlapping	YES													large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6	c.(8935-8937)GTC>GCC	4343			kalirin, RhoGEF kinase isoform 1															COSM3748211,COSM3748210		.		ENST00000568966	Transcript			apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	ENSG00000260391	g.chr3:124438292T>C				MODIFIER		0.69	neutral	getma.org/?cm=msa&ty=f&p=KALRN_HUMAN&rb=2938&re=2985&var=V2978A	NA	getma.org/?cm=var&var=hg19,3,124438292,T,C&fts=all	V2978A	--	--	1																																		KALRN_uc003ehk.2_Missense_Mutation_p.V1282A	1,1	1			p.V2979A	NM_001024660	NP_001019831			1,1		RP11-71H17.7	Clone_based_vega_gene	O60229	KALRN_HUMAN					60	9063	+				2978					SNV	KALRN,missense_variant,p.Val1282Ala,ENST00000291478,NM_007064.3;KALRN,missense_variant,p.Val2979Ala,ENST00000360013,NM_001024660.3;KALRN,missense_variant,p.Val2948Ala,ENST00000354186,;KALRN,missense_variant,p.Val1250Ala,ENST00000428018,;RP11-71H17.7,upstream_gene_variant,,ENST00000568966,;	uc003ehg.2	c.8936T>C	-/2538	3	3			c.8936T>C						3	SNP	c.(8935-8937)GTC>GCC	8	8			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6	Broad	kalirin, RhoGEF kinase isoform 1			124438292		0.502	ENSG00000260391	7839	g.chr3:124438292T>C	apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			1865			1865	1.820306	KEEP	2	6	-1	33	48	2	6	-1	16.040328	33	48	0.08642	1	0	0	0	0	1	0	0	0	--	--		0	C			KALRN_uc003ehk.2_Missense_Mutation_p.V1282A	14	GBM-06-0128-TP	p.V2979A	T	AGCTACATTGTCAACCGGGTG	NM_001024660	NP_001019831	124438292	O60229	KALRN_HUMAN	0			60	9063	+	C	C			Missense_Mutation	2978						
RP11-813N20.1	0	broad.mit.edu	GRCh37	4	69874638	69874638	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C			TCGA-06-0128-01	TCGA-06-0128-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000505092.1:n.1287A>G		p.*429*	ENST00000505092				0			1			C		uc011cao.1	unprocessed_pseudogene	YES													skin(3)|ovary(2)	5	c.(1132-1134)GAC>GGC				RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;						6-May										6-May	.		ENST00000505092	Transcript			lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	ENSG00000251685	g.chr4:69874638T>C				MODIFIER								--	--	1																																		UGT2B10_uc011can.1_Missense_Mutation_p.D294G		1			p.D378G							RP11-813N20.1	Clone_based_vega_gene	P36537	UDB10_HUMAN					8	1269	-				415					SNV	RP11-813N20.1,non_coding_transcript_exon_variant,,ENST00000505092,;RP11-813N20.1,upstream_gene_variant,,ENST00000425704,;	uc011cao.1	c.1133A>G	1287/1620	3	3			c.1133A>G						4	SNP	c.(1132-1134)GAC>GGC	60	60			skin(3)|ovary(2)	5	Broad	RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;			69874638		0.403	ENSG00000251685	16704	g.chr4:69874638T>C	lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	Melanoma(133;755 1763 25578 26334 46021)			Melanoma(133;755 1763 25578 26334 46021)			5.941591	KEEP	20	11	-1	223	184	20	11	-1	75.310887	223	184	0.072973	1	0	0	0	0	1	0	0	0	--	--		0	C			UGT2B10_uc011can.1_Missense_Mutation_p.D294G	14	GBM-06-0128-TP	p.D378G	T	TGTGTTGAAGTCCACTCTAAC			69874638	P36537	UDB10_HUMAN	0			8	1269	-	C	C			Missense_Mutation	415						
RP11-813N20.1	0	broad.mit.edu	GRCh37	4	69885591	69885591	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G			TCGA-06-5411-01	TCGA-06-5411-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000505092.1:n.542G>C		p.*181*	ENST00000505092				0			1			G		uc011cao.1	unprocessed_pseudogene	YES													skin(3)|ovary(2)	5	c.(397-399)AGT>ACT				RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;						6-Jan	1.65E-05							0.000121	rs771341543	6-Jan	.		ENST00000505092	Transcript			lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	ENSG00000251685	g.chr4:69885591C>G				MODIFIER								--	--	1																																		UGT2B10_uc011can.1_Intron		1			p.S133T							RP11-813N20.1	Clone_based_vega_gene	P36537	UDB10_HUMAN					4	534	-				170					SNV	RP11-813N20.1,non_coding_transcript_exon_variant,,ENST00000505092,;RP11-813N20.2,downstream_gene_variant,,ENST00000503426,;	uc011cao.1	c.398G>C	542/1620	3	3			c.398G>C						4	SNP	c.(397-399)AGT>ACT	15	15			skin(3)|ovary(2)	5	Broad	RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;			69885591		0.408	ENSG00000251685	16704	g.chr4:69885591C>G	lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	Melanoma(133;755 1763 25578 26334 46021)			Melanoma(133;755 1763 25578 26334 46021)			32.564291	KEEP	5	6	-1	14	17	5	6	-1	34.145458	14	17	0.277778	1	0	0	0	0	1	0	0	0	--	--		0	G			UGT2B10_uc011can.1_Intron	94	GBM-06-5411-TP	p.S133T	C	GAAGCTGTGACTGTACACAAA			69885591	P36537	UDB10_HUMAN	0			4	534	-	G	G			Missense_Mutation	170						
RP11-813N20.1			GRCh37	4	69874575	69874575	+	splice_region_variant,intron_variant,non_coding_transcript_variant	Splice_Region	SNP	G	G	A			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000505092.1:n.1346+4C>T		p.X449_splice	ENST00000505092		449		0																																																																																																																																																																																																																																												
RP1L1	94137	broad.mit.edu	GRCh37	8	10469370	10469370	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0237-01	TCGA-06-0237-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382483.3:c.2238G>A	p.Ser746=	p.S746=	ENST00000382483	NM_178857.5	746	tcG/tcA	0	T:0.0088	T:0.0129	1	T:0		T	S	uc003wtc.2	protein_coding	YES	CCDS43708.1			2238/7203									ovary(4)|breast(3)|central_nervous_system(1)	8	c.(2236-2238)TCG>TCA			hmmpanther:PTHR23005:SF3,hmmpanther:PTHR23005	retinitis pigmentosa 1-like 1		T:0	T:0.0001	ENSP00000371923	T:0	4-Apr	0.000943	0.00997	0.000519	0.000116		1.51E-05		0.000484	rs190077685,COSM2151067	4-Apr	common_variant		ENST00000382483	Transcript	1	T:0.0034	intracellular signal transduction			ENSG00000183638	g.chr8:10469370C>T	15946			LOW								--	--	1																																			0,1	1			p.S746S	NM_178857	NP_849188	T:0		0,1		RP1L1	HGNC	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	A6NKC6_HUMAN		4	2467	-			UPI00001AF9CC	746					SNV	RP1L1,synonymous_variant,p.=,ENST00000382483,NM_178857.5;	uc003wtc.2	c.2238G>A	2462/7973	1	1			c.2238G>A						8	SNP	c.(2236-2238)TCG>TCA	5	5			ovary(4)|breast(3)|central_nervous_system(1)	8	Broad	retinitis pigmentosa 1-like 1			10469370		0.652	ENSG00000183638	13314	g.chr8:10469370C>T	intracellular signal transduction									129.222906	KEEP	28	18	-1	41	41	28	18	-1	131.058876	41	41	0.365217	1	0	0	0	0	0	0	1	0	--	--		0	T				54	GBM-06-0237-TP	p.S746S	C	AAACAAAATCCGAGTGGACTG	NM_178857	NP_849188	10469370	Q8IWN7	RP1L1_HUMAN	0		COAD - Colon adenocarcinoma(149;0.0811)	4	2467	-	T	T			Silent	746						
RP1L1	94137		GRCh37	8	10469501	10469501	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000382483.3:c.2107C>T	p.Arg703Ter	p.R703*	ENST00000382483	NM_178857.5	703	Cga/Tga	0																																																																																																																																																																																																																																												
RP4-777D9.2	0	broad.mit.edu	GRCh37	20	21143040	21143040	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000457464.1:n.598G>A		*200*	ENST00000457464				0			1			A		uc002wsb.2	antisense	YES														0	c.(934-936)GAG>AAG				polo-like kinase 1 substrate 1 isoform 1																	.		ENST00000591761	Transcript			spindle organization	centrosome	protein kinase binding	ENSG00000232712	g.chr20:21143040G>A				MODIFIER	6-May	0.055	neutral	getma.org/?cm=msa&ty=f&p=KIZ_HUMAN&rb=1&re=671&var=E312K	NA	getma.org/?cm=var&var=hg19,20,21143040,G,A&fts=all	E312K	--	--	1																																		PLK1S1_uc010zsh.1_Missense_Mutation_p.E209K|PLK1S1_uc010zsi.1_Missense_Mutation_p.E179K|PLK1S1_uc010zsj.1_RNA|uc002wsc.2_Intron|PLK1S1_uc002wsd.2_RNA					p.E312K	NM_018474	NP_060944					RP4-777D9.2	Clone_based_vega_gene	Q2M2Z5	KIZ_HUMAN					5	1067	+				312					SNV	RP4-777D9.2,intron_variant,,ENST00000591761,;RP5-872K7.7,intron_variant,,ENST00000425746,;RP5-872K7.7,upstream_gene_variant,,ENST00000434043,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000457464,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000427692,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000458446,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000246027,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000424111,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000432487,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000447448,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000428699,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000445992,;RPS15AP1,downstream_gene_variant,,ENST00000457423,;	uc002wsb.2	c.934G>A	-/5369	1	1			c.934G>A						20	SNP	c.(934-936)GAG>AAG	64	64				0	Broad	polo-like kinase 1 substrate 1 isoform 1			21143040		0.448	ENSG00000232712	11897	g.chr20:21143040G>A	spindle organization	centrosome	protein kinase binding							39.054507	KEEP	5	10	-1	12	13	5	10	-1	39.626786	12	13	0.368421	1	0	0	0	0	1	0	0	0	--	--		0	A			PLK1S1_uc010zsh.1_Missense_Mutation_p.E209K|PLK1S1_uc010zsi.1_Missense_Mutation_p.E179K|PLK1S1_uc010zsj.1_RNA|uc002wsc.2_Intron|PLK1S1_uc002wsd.2_RNA	129	GBM-12-5295-TP	p.E312K	G	TATTGAAGTTGAGGAAAAAAG	NM_018474	NP_060944	21143040	Q2M2Z5	KIZ_HUMAN	0			5	1067	+	A	A			Missense_Mutation	312						
RP4-777D9.2	0	broad.mit.edu	GRCh37	20	21143753	21143753	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G			TCGA-27-2524-01	TCGA-27-2524-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000457464.1:n.969C>G		*323*	ENST00000457464				0			1			G		uc002wsb.2	antisense	YES														0	c.(1303-1305)AGC>AGG				polo-like kinase 1 substrate 1 isoform 1																	.		ENST00000591761	Transcript			spindle organization	centrosome	protein kinase binding	ENSG00000232712	g.chr20:21143753C>G				MODIFIER	6-Apr	2.135	medium	getma.org/?cm=msa&ty=f&p=KIZ_HUMAN&rb=1&re=671&var=S435R	NA	getma.org/?cm=var&var=hg19,20,21143753,C,G&fts=all	S435R	--	--	1																																		PLK1S1_uc010zsh.1_Missense_Mutation_p.S332R|PLK1S1_uc010zsi.1_Missense_Mutation_p.S302R|PLK1S1_uc010zsj.1_RNA|uc002wsc.2_Intron|PLK1S1_uc002wsd.2_RNA					p.S435R	NM_018474	NP_060944					RP4-777D9.2	Clone_based_vega_gene	Q2M2Z5	KIZ_HUMAN					6	1438	+				435					SNV	RP4-777D9.2,intron_variant,,ENST00000591761,;RP5-872K7.7,upstream_gene_variant,,ENST00000434043,;RP5-872K7.7,upstream_gene_variant,,ENST00000425746,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000457464,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000427692,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000458446,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000246027,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000424111,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000432487,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000447448,;PLK1S1,non_coding_transcript_exon_variant,,ENST00000428699,;PLK1S1,downstream_gene_variant,,ENST00000445992,;RPS15AP1,downstream_gene_variant,,ENST00000457423,;	uc002wsb.2	c.1305C>G	-/5369	3	3			c.1305C>G						20	SNP	c.(1303-1305)AGC>AGG	13	13				0	Broad	polo-like kinase 1 substrate 1 isoform 1			21143753		0.368	ENSG00000232712	11897	g.chr20:21143753C>G	spindle organization	centrosome	protein kinase binding							219.797912	KEEP	41	38	-1	67	82	41	38	-1	224.404633	67	82	0.339901	1	0	0	0	0	1	0	0	0	--	--		0	G			PLK1S1_uc010zsh.1_Missense_Mutation_p.S332R|PLK1S1_uc010zsi.1_Missense_Mutation_p.S302R|PLK1S1_uc010zsj.1_RNA|uc002wsc.2_Intron|PLK1S1_uc002wsd.2_RNA	202	GBM-27-2524-TP	p.S435R	C	AAACCCTAAGCTCTCCTGATT	NM_018474	NP_060944	21143753	Q2M2Z5	KIZ_HUMAN	0			6	1438	+	G	G			Missense_Mutation	435						
RP9	0	broad.mit.edu	GRCh37	7	33138995	33138995	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-1832-01	TCGA-27-1832-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297157.3:c.237C>T	p.His79=	p.H79=	ENST00000297157	NM_203288.1	79	caC/caT	0			1			A	H	uc003tdm.2	protein_coding	YES	CCDS5440.1			237/666										0	c.(235-237)CAC>CAT				retinitis pigmentosa 9				ENSP00000297157		6-Mar	3.29E-05		8.64E-05			1.50E-05		0.000121	rs374773345,COSM1089264	6-Mar	.		ENST00000297157	Transcript	1		RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding	ENSG00000164610	g.chr7:33138995G>A	10288			LOW								--	--	1																																			0,1	1			p.H79H	NM_203288	NP_976033			0,1	RP9_HUMAN	RP9	HGNC	Q8TA86	RP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0403)				3	255	-			UPI0000032AA5	79			PIM1-binding (By similarity).		SNV	RP9,synonymous_variant,p.=,ENST00000297157,NM_203288.1;RP9,synonymous_variant,p.=,ENST00000448915,;RP9,non_coding_transcript_exon_variant,,ENST00000474370,;RP9,downstream_gene_variant,,ENST00000492391,;	uc003tdm.2	c.237C>T	255/1121	1	1			c.237C>T						7	SNP	c.(235-237)CAC>CAT	62	62				0	Broad	retinitis pigmentosa 9			33138995		0.463	ENSG00000164610	13316	g.chr7:33138995G>A	RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding							81.232615	KEEP	26	25	-1	189	109	26	25	-1	119.502358	189	109	0.150307	1	0	0	0	0	0	0	1	0	--	--		0	A				191	GBM-27-1832-TP	p.H79H	G	ATTCCCTGGCGTGTTCATTGC	NM_203288	NP_976033	33138995	Q8TA86	RP9_HUMAN	0	GBM - Glioblastoma multiforme(11;0.0403)		3	255	-	A	A			Silent	79			PIM1-binding (By similarity).			
RPA1	6117	broad.mit.edu	GRCh37	17	1780602	1780602	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254719.5:c.684C>T	p.Asp228=	p.D228=	ENST00000254719	NM_002945.3	228	gaC/gaT	0	T:0		1			T	D	uc002fto.2	protein_coding	YES	CCDS11014.1			684/1851										0	c.(682-684)GAC>GAT		NER	Gene3D:2.40.50.140,Pfam_domain:PF01336,hmmpanther:PTHR23273,hmmpanther:PTHR23273:SF0,Superfamily_domains:SSF50249,TIGRFAM_domain:TIGR00617	replication protein A1			T:0.0001	ENSP00000254719		17-Aug	2.47E-05					1.55E-05		0.000126	rs376851045,COSM3402641	17-Aug	.		ENST00000254719	Transcript			cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	ENSG00000132383	g.chr17:1780602C>T	10289			LOW								--	--	1																																			0,1	1			p.D228D	NM_002945	NP_002936			0,1	RFA1_HUMAN	RPA1	HGNC	P27694	RFA1_HUMAN			I3L524_HUMAN,I3L2M5_HUMAN		8	799	+			UPI000013379A	228					SNV	RPA1,synonymous_variant,p.=,ENST00000254719,NM_002945.3;RPA1,upstream_gene_variant,,ENST00000574049,;RPA1,downstream_gene_variant,,ENST00000570451,;RPA1,downstream_gene_variant,,ENST00000571058,;RPA1,non_coding_transcript_exon_variant,,ENST00000573924,;	uc002fto.2	c.684C>T	794/4340	1	1			c.684C>T						17	SNP	c.(682-684)GAC>GAT	12	12				0	Broad	replication protein A1	NER		1780602		0.562	ENSG00000132383	13317	g.chr17:1780602C>T	cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding							54.209848	KEEP	9	7	-1	5	1	9	7	-1	55.234827	5	1	0.727273	1	0	0	0	0	0	0	1	0	--	--		0	T				102	GBM-06-5858-TP	p.D228D	C	AACTGGTTGACGAAAGTGTGA	NM_002945	NP_002936	1780602	P27694	RFA1_HUMAN	0			8	799	+	T	T			Silent	228						
RPA4	0	broad.mit.edu	GRCh37	X	96139918	96139918	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5950-01	TCGA-19-5950-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373040.3:c.609C>T	p.Asp203=	p.D203=	ENST00000373040	NM_013347.4	203	gaC/gaT	0			1			T	D	uc004efv.3	protein_coding	YES	CCDS35345.1			609/786										0	c.(607-609)GAC>GAT		Other_identified_genes_with_known_or_suspected_DNA_repair_function	hmmpanther:PTHR13989:SF12,hmmpanther:PTHR13989,Gene3D:1.10.10.10,Pfam_domain:PF08784,PIRSF_domain:PIRSF036949,Superfamily_domains:SSF46785	replication protein A4, 34kDa				ENSP00000362131		1-Jan									COSM2156536	1-Jan	.		ENST00000373040	Transcript			DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding	ENSG00000204086	g.chrX:96139918C>T	30305			LOW								--	--	1																																		DIAPH2_uc004eft.3_Intron|DIAPH2_uc004efu.3_Intron|DIAPH2_uc004efs.2_Intron	1	1			p.D203D	NM_013347	NP_037479			1	RFA4_HUMAN	RPA4	HGNC	Q13156	RFA4_HUMAN					1	907	+			UPI00001337A4	203					SNV	RPA4,synonymous_variant,p.=,ENST00000373040,NM_013347.4;DIAPH2,intron_variant,,ENST00000324765,;DIAPH2,intron_variant,,ENST00000373061,NM_006729.4;DIAPH2,intron_variant,,ENST00000355827,NM_007309.3;DIAPH2,intron_variant,,ENST00000373049,;DIAPH2,intron_variant,,ENST00000373054,;	uc004efv.3	c.609C>T	1012/1540	1	1			c.609C>T						23	SNP	c.(607-609)GAC>GAT	13	13				0	Broad	replication protein A4, 34kDa	Other_identified_genes_with_known_or_suspected_DNA_repair_function		96139918		0.522	ENSG00000204086	13320	g.chrX:96139918C>T	DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding							104.189262	KEEP	20	19	-1	28	36	20	19	-1	105.699075	28	36	0.367347	1	0	0	0	0	0	0	1	0	--	--		0	T			DIAPH2_uc004eft.3_Intron|DIAPH2_uc004efu.3_Intron|DIAPH2_uc004efs.2_Intron	170	GBM-19-5950-TP	p.D203D	C	TCATCCAGGACGAAGTGCTGC	NM_013347	NP_037479	96139918	Q13156	RFA4_HUMAN	0			1	907	+	T	T			Silent	203						
RPA4	0	broad.mit.edu	GRCh37	X	96139742	96139742	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-5207-01	TCGA-28-5207-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373040.3:c.433A>G	p.Ile145Val	p.I145V	ENST00000373040	NM_013347.4	145	Att/Gtt	0			1			G	I/V	uc004efv.3	protein_coding	YES	CCDS35345.1			433/786										0	c.(433-435)ATT>GTT		Other_identified_genes_with_known_or_suspected_DNA_repair_function	hmmpanther:PTHR13989:SF12,hmmpanther:PTHR13989,Pfam_domain:PF01336,Gene3D:2.40.50.140,PIRSF_domain:PIRSF036949,Superfamily_domains:SSF50249	replication protein A4, 34kDa				ENSP00000362131		1-Jan									COSM2157328	1-Jan	.		ENST00000373040	Transcript			DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding	ENSG00000204086	g.chrX:96139742A>G	30305			MODERATE		1.165	low	getma.org/?cm=msa&ty=f&p=RFA4_HUMAN&rb=74&re=150&var=I145V	getma.org/pdb.php?prot=RFA4_HUMAN&from=74&to=150&var=I145V	getma.org/?cm=var&var=hg19,X,96139742,A,G&fts=all	I145V	--	--	1																																		DIAPH2_uc004eft.3_Intron|DIAPH2_uc004efu.3_Intron|DIAPH2_uc004efs.2_Intron	1	1		benign(0.118)	p.I145V	NM_013347	NP_037479		tolerated(0.1)	1	RFA4_HUMAN	RPA4	HGNC	Q13156	RFA4_HUMAN					1	731	+			UPI00001337A4	145					SNV	RPA4,missense_variant,p.Ile145Val,ENST00000373040,NM_013347.4;DIAPH2,intron_variant,,ENST00000324765,;DIAPH2,intron_variant,,ENST00000373061,NM_006729.4;DIAPH2,intron_variant,,ENST00000355827,NM_007309.3;DIAPH2,intron_variant,,ENST00000373049,;DIAPH2,intron_variant,,ENST00000373054,;	uc004efv.3	c.433A>G	836/1540	4	4			c.433A>G						23	SNP	c.(433-435)ATT>GTT	25	25				0	Broad	replication protein A4, 34kDa	Other_identified_genes_with_known_or_suspected_DNA_repair_function		96139742		0.453	ENSG00000204086	13320	g.chrX:96139742A>G	DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding							263.921776	KEEP	46	33	-1	16	10	46	33	-1	268.856397	16	10	0.741935	1	0	0	0	0	1	0	0	0	--	--		0	G			DIAPH2_uc004eft.3_Intron|DIAPH2_uc004efu.3_Intron|DIAPH2_uc004efs.2_Intron	216	GBM-28-5207-TP	p.I145V	A	GGTATTGAAAATTCATGTCCT	NM_013347	NP_037479	96139742	Q13156	RFA4_HUMAN	0			1	731	+	G	G			Missense_Mutation	145						
RPAIN	0	broad.mit.edu	GRCh37	17	5329307	5329307	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs142664022	byFrequency	TCGA-28-5219-01	TCGA-28-5219-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381209.3:c.330C>A	p.Ser110Arg	p.S110R	ENST00000381209	NM_001033002.3	110	agC/agA	0			1			A	S/R	uc002gbq.2	protein_coding		CCDS32536.1			330/660										0	c.(328-330)AGC>AGA			Pfam_domain:PF14767,hmmpanther:PTHR31742,hmmpanther:PTHR31742:SF1,Low_complexity_(Seg):seg	RPA interacting protein isoform b				ENSP00000370606		7-Apr									COSM3403026,COSM3403025	7-Apr	.		ENST00000381209	Transcript			DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|cytoplasm|nucleolus|PML body|PML body	metal ion binding|protein complex binding	ENSG00000129197	g.chr17:5329307C>A	28641			MODERATE		0.92	low	getma.org/?cm=msa&ty=f&p=RIP_HUMAN&rb=1&re=217&var=S110R	NA	getma.org/?cm=var&var=hg19,17,5329307,C,A&fts=all	S110R	--	--	1																																		RPAIN_uc010vsz.1_Missense_Mutation_p.S110R|RPAIN_uc002gbp.1_Intron|RPAIN_uc010vta.1_Intron|RPAIN_uc010vtb.1_Missense_Mutation_p.S110R|RPAIN_uc002gbs.2_Intron|RPAIN_uc002gbt.2_Missense_Mutation_p.S110R|RPAIN_uc002gbu.2_Intron|RPAIN_uc002gbv.2_Intron|RPAIN_uc002gbr.2_RNA|RPAIN_uc002gbw.2_Intron|RPAIN_uc002gbx.1_5'Flank	1,1			benign(0.036)	p.S110R	NM_001033002	NP_001028174		tolerated(0.26)	1,1		RPAIN	HGNC	Q86UA6	RIP_HUMAN					4	900	+			UPI0000200742	110					SNV	RPAIN,missense_variant,p.Ser110Arg,ENST00000381209,NM_001033002.3;RPAIN,missense_variant,p.Ser110Arg,ENST00000381208,NM_001160244.1;RPAIN,missense_variant,p.Ser110Arg,ENST00000405578,NM_001160243.1;RPAIN,missense_variant,p.Ser110Arg,ENST00000327154,NM_001160266.1;RPAIN,intron_variant,,ENST00000536255,NM_001160246.1;RPAIN,intron_variant,,ENST00000574003,;CTC-524C5.2,intron_variant,,ENST00000575890,;RPAIN,missense_variant,p.Ser110Arg,ENST00000539417,;RPAIN,non_coding_transcript_exon_variant,,ENST00000573126,;RPAIN,non_coding_transcript_exon_variant,,ENST00000571613,;RPAIN,non_coding_transcript_exon_variant,,ENST00000571043,;RPAIN,non_coding_transcript_exon_variant,,ENST00000570883,;RPAIN,intron_variant,,ENST00000575112,;RPAIN,intron_variant,,ENST00000571558,;RPAIN,intron_variant,,ENST00000575599,;RPAIN,intron_variant,,ENST00000573577,;RPAIN,downstream_gene_variant,,ENST00000575711,;RPAIN,downstream_gene_variant,,ENST00000572174,;	uc002gbq.2	c.330C>A	900/1535	1	1			c.330C>A						17	SNP	c.(328-330)AGC>AGA	62	62				0	Broad	RPA interacting protein isoform b			5329307		0.478	ENSG00000129197	13321	g.chr17:5329307C>A	DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|cytoplasm|nucleolus|PML body|PML body	metal ion binding|protein complex binding							1.498653	KEEP	3	1	0.25	17	14	3	1	0.25	6.809384	17	14	0.09375	1	0	0	0	0	1	0	0	0	--	--		0	A			RPAIN_uc010vsz.1_Missense_Mutation_p.S110R|RPAIN_uc002gbp.1_Intron|RPAIN_uc010vta.1_Intron|RPAIN_uc010vtb.1_Missense_Mutation_p.S110R|RPAIN_uc002gbs.2_Intron|RPAIN_uc002gbt.2_Missense_Mutation_p.S110R|RPAIN_uc002gbu.2_Intron|RPAIN_uc002gbv.2_Intron|RPAIN_uc002gbr.2_RNA|RPAIN_uc002gbw.2_Intron|RPAIN_uc002gbx.1_5'Flank	225	GBM-28-5219-TP	p.S110R	C	CCATCATCAGCGAGTATGAGA	NM_001033002	NP_001028174	5329307	Q86UA6	RIP_HUMAN	0			4	900	+	A	A			Missense_Mutation	110						
RPAP1	26015	broad.mit.edu	GRCh37	15	41810014	41810014	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0882-01	TCGA-06-0882-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304330.4:c.4014A>G	p.Thr1338=	p.T1338=	ENST00000304330	NM_015540.2	1338	acA/acG	0			1			C	T	uc001zod.2	protein_coding	YES	CCDS10079.1			4014/4182									large_intestine(1)	1	c.(4012-4014)ACA>ACG			hmmpanther:PTHR21483:SF18,hmmpanther:PTHR21483	RNA polymerase II associated protein 1				ENSP00000306123		24/25									rs755165863,COSM2152372	24/25	.		ENST00000304330	Transcript				nucleus	DNA binding|DNA-directed RNA polymerase activity	ENSG00000103932	g.chr15:41810014T>C	24567			LOW								--	--	1																																		RPAP1_uc001zoc.2_Silent_p.T357T	0,1	1			p.T1338T	NM_015540	NP_056355			0,1	RPAP1_HUMAN	RPAP1	HGNC	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	H3BPY8_HUMAN,H3BPM3_HUMAN		24	4138	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	UPI000013D465	1338					SNV	RPAP1,missense_variant,p.His1086Arg,ENST00000561603,;RPAP1,synonymous_variant,p.=,ENST00000304330,NM_015540.2;LTK,upstream_gene_variant,,ENST00000263800,NM_002344.5;LTK,upstream_gene_variant,,ENST00000355166,NM_206961.3;LTK,upstream_gene_variant,,ENST00000453182,NM_001135685.1;LTK,upstream_gene_variant,,ENST00000561619,;RPAP1,3_prime_UTR_variant,,ENST00000562303,;RPAP1,non_coding_transcript_exon_variant,,ENST00000565167,;LTK,upstream_gene_variant,,ENST00000563518,;RPAP1,downstream_gene_variant,,ENST00000564934,;	uc001zod.2	c.4014A>G	4131/4665	3	3			c.4014A>G						15	SNP	c.(4012-4014)ACA>ACG	49	49			large_intestine(1)	1	Broad	RNA polymerase II associated protein 1			41810014		0.562	ENSG00000103932	13322	g.chr15:41810014T>C		nucleus	DNA binding|DNA-directed RNA polymerase activity							303.464081	KEEP	94	78	-1	234	212	94	78	-1	318.566656	234	212	0.288	1	0	0	0	0	0	0	1	0	--	--		0	C			RPAP1_uc001zoc.2_Silent_p.T357T	77	GBM-06-0882-TP	p.T1338T	T	CCAGCAGCCATGTTTTCTGCA	NM_015540	NP_056355	41810014	Q9BWH6	RPAP1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	24	4138	-	C	C		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	Silent	1338						
RPAP1	0	broad.mit.edu	GRCh37	15	41819389	41819389	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-2521-01	TCGA-27-2521-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304330.4:c.1722G>A	p.Arg574=	p.R574=	ENST00000304330	NM_015540.2	574	cgG/cgA	0			1			T	R	uc001zod.2	protein_coding	YES	CCDS10079.1			1722/4182									large_intestine(1)	1	c.(1720-1722)CGG>CGA			hmmpanther:PTHR21483:SF18,hmmpanther:PTHR21483	RNA polymerase II associated protein 1				ENSP00000306123		13/25									COSM3401716	13/25	.		ENST00000304330	Transcript				nucleus	DNA binding|DNA-directed RNA polymerase activity	ENSG00000103932	g.chr15:41819389C>T	24567			LOW								--	--	1																																			1	1			p.R574R	NM_015540	NP_056355			1	RPAP1_HUMAN	RPAP1	HGNC	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	H3BPY8_HUMAN,H3BPM3_HUMAN		13	1846	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	UPI000013D465	574					SNV	RPAP1,synonymous_variant,p.=,ENST00000304330,NM_015540.2;RPAP1,synonymous_variant,p.=,ENST00000561603,;RPAP1,upstream_gene_variant,,ENST00000565035,;RPAP1,downstream_gene_variant,,ENST00000568413,;RPAP1,synonymous_variant,p.=,ENST00000562303,;RPAP1,upstream_gene_variant,,ENST00000564934,;RPAP1,upstream_gene_variant,,ENST00000561631,;	uc001zod.2	c.1722G>A	1839/4665	2	2			c.1722G>A						15	SNP	c.(1720-1722)CGG>CGA	30	30			large_intestine(1)	1	Broad	RNA polymerase II associated protein 1			41819389		0.612	ENSG00000103932	13322	g.chr15:41819389C>T		nucleus	DNA binding|DNA-directed RNA polymerase activity							-21.766762	KEEP	2	3	-1	68	66	2	3	-1	6.990822	68	66	0.033058	1	0	0	0	0	0	0	1	0	--	--		0	T				200	GBM-27-2521-TP	p.R574R	C	CCAGGGAATGCCGGGCCAGGC	NM_015540	NP_056355	41819389	Q9BWH6	RPAP1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	13	1846	-	T	T		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	Silent	574						
RPE	0	broad.mit.edu	GRCh37	2	210881273	210881273	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2634-01	TCGA-32-2634-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359429.6:c.385G>A	p.Ala129Thr	p.A129T	ENST00000359429	NM_199229.2	129	Gca/Aca	0			1			A	A/T	uc002vdn.2	protein_coding	YES	CCDS2388.1			385/687										0	c.(385-387)GCA>ACA			Gene3D:3.20.20.70,Pfam_domain:PF00834,PIRSF_domain:PIRSF001461,hmmpanther:PTHR11749,Superfamily_domains:SSF51366,TIGRFAM_domain:TIGR01163	ribulose-5-phosphate-3-epimerase isoform 1				ENSP00000352401		6-Apr									COSM3407530,COSM3407531	6-Apr	.		ENST00000359429	Transcript			pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity	ENSG00000197713	g.chr2:210881273G>A	10293			MODERATE		0.73	neutral	getma.org/?cm=msa&ty=f&p=RPE_HUMAN&rb=6&re=204&var=A129T	getma.org/pdb.php?prot=RPE_HUMAN&from=6&to=204&var=A129T	getma.org/?cm=var&var=hg19,2,210881273,G,A&fts=all	A129T	--	--	1																																		RPE_uc002vdm.2_Missense_Mutation_p.A129T|RPE_uc002vdo.2_Missense_Mutation_p.A79T|RPE_uc010zjf.1_Missense_Mutation_p.A129T|RPE_uc002vdp.2_Missense_Mutation_p.A76T|RPE_uc010fup.2_Missense_Mutation_p.A61T|RPE_uc002vdq.2_Missense_Mutation_p.A79T|RPE_uc002vdr.2_Intron	1,1	1		benign(0.006)	p.A129T	NM_199229	NP_954699		tolerated(0.4)	1,1	RPE_HUMAN	RPE	HGNC	Q96AT9	RPE_HUMAN		Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)	C9JPQ7_HUMAN,C9JCL8_HUMAN,C9J6A7_HUMAN		4	390	+			UPI0000037A9A	129					SNV	RPE,missense_variant,p.Ala129Thr,ENST00000359429,NM_199229.2;RPE,missense_variant,p.Ala79Thr,ENST00000429921,NM_001278282.1,NM_001278283.1;RPE,missense_variant,p.Ala121Thr,ENST00000354506,;RPE,missense_variant,p.Ala79Thr,ENST00000454822,NM_006916.2;RPE,missense_variant,p.Ala129Thr,ENST00000540255,NM_001278285.1;RPE,missense_variant,p.Ala79Thr,ENST00000436630,;RPE,missense_variant,p.Ala61Thr,ENST00000429907,NM_001278289.1;RPE,missense_variant,p.Ala129Thr,ENST00000435437,;RPE,missense_variant,p.Ala61Thr,ENST00000438204,;RPE,missense_variant,p.Ala61Thr,ENST00000411934,;RPE,missense_variant,p.Ala129Thr,ENST00000452025,;RPE,missense_variant,p.Ala61Thr,ENST00000408981,;RPE,missense_variant,p.Ala61Thr,ENST00000445268,;RPE,missense_variant,p.Ala79Thr,ENST00000438265,;RPE,missense_variant,p.Ala79Thr,ENST00000453724,;RPE,missense_variant,p.Ala61Thr,ENST00000441588,;KANSL1L,downstream_gene_variant,,ENST00000281772,NM_152519.2;RPE,3_prime_UTR_variant,,ENST00000438191,;	uc002vdn.2	c.385G>A	482/2569	1	1			c.385G>A						2	SNP	c.(385-387)GCA>ACA	63	63				0	Broad	ribulose-5-phosphate-3-epimerase isoform 1			210881273		0.398	ENSG00000197713	13325	g.chr2:210881273G>A	pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity							32.668085	KEEP	15	7	-1	78	62	15	7	-1	50.979024	78	62	0.141892	1	0	0	0	0	1	0	0	0	--	--		0	A			RPE_uc002vdm.2_Missense_Mutation_p.A129T|RPE_uc002vdo.2_Missense_Mutation_p.A79T|RPE_uc010zjf.1_Missense_Mutation_p.A129T|RPE_uc002vdp.2_Missense_Mutation_p.A76T|RPE_uc010fup.2_Missense_Mutation_p.A61T|RPE_uc002vdq.2_Missense_Mutation_p.A79T|RPE_uc002vdr.2_Intron	241	GBM-32-2634-TP	p.A129T	G	TGAGTATTTGGCACCATGGGC	NM_199229	NP_954699	210881273	Q96AT9	RPE_HUMAN	0		Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)	4	390	+	A	A			Missense_Mutation	129						
RPE65	0	broad.mit.edu	GRCh37	1	68904666	68904666	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-27-1832-01	TCGA-27-1832-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262340.5:c.957A>T	p.Glu319Asp	p.E319D	ENST00000262340	NM_000329.2	319	gaA/gaT	0			1			A	E/D	uc001dei.1	protein_coding	YES	CCDS643.1			957/1602									ovary(1)	1	c.(955-957)GAA>GAT			Pfam_domain:PF03055,hmmpanther:PTHR10543,hmmpanther:PTHR10543:SF7	retinal pigment epithelium-specific protein				ENSP00000262340		14-Sep									COSM3400983	14-Sep	.		ENST00000262340	Transcript	1		visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	ENSG00000116745	g.chr1:68904666T>A	10294			MODERATE		2.805	medium	getma.org/?cm=msa&ty=f&p=RPE65_HUMAN&rb=13&re=533&var=E319D	getma.org/pdb.php?prot=RPE65_HUMAN&from=13&to=533&var=E319D	getma.org/?cm=var&var=hg19,1,68904666,T,A&fts=all	E319D	--	--	1																																			1	1		possibly_damaging(0.847)	p.E319D	NM_000329	NP_000320		deleterious(0)	1	RPE65_HUMAN	RPE65	HGNC	Q16518	RPE65_HUMAN			Q2EKB8_HUMAN,C7FEP0_HUMAN		9	1011	-			UPI000004346C	319					SNV	RPE65,missense_variant,p.Glu319Asp,ENST00000262340,NM_000329.2;	uc001dei.1	c.957A>T	1011/2610	1	1			c.957A>T						1	SNP	c.(955-957)GAA>GAT	54	54			ovary(1)	1	Broad	retinal pigment epithelium-specific protein			68904666		0.413	ENSG00000116745	13326	g.chr1:68904666T>A	visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity							-10.304992	KEEP	14	13	-1	177	157	14	13	-1	53.266145	177	157	0.073529	1	0	0	0	0	1	0	0	0	--	--		0	A				191	GBM-27-1832-TP	p.E319D	T	ACCCATTGTCTTCATAGGTGT	NM_000329	NP_000320	68904666	Q16518	RPE65_HUMAN	0			9	1011	-	A	A			Missense_Mutation	319						
RPE65	6121		GRCh37	1	68905261	68905261	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000262340.5:c.708G>T	p.Lys236Asn	p.K236N	ENST00000262340	NM_000329.2	236	aaG/aaT	0																																																																																																																																																																																																																																												
RPF1	0	broad.mit.edu	GRCh37	1	84962001	84962001	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-41-2575-01	TCGA-41-2575-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370654.5:c.956T>C	p.Leu319Pro	p.L319P	ENST00000370654	NM_025065.6	319	cTt/cCt	0			1			C	L/P	uc001djv.3	protein_coding	YES	CCDS695.1			956/1050										0	c.(955-957)CTT>CCT			Superfamily_domains:SSF52954,SMART_domains:SM00879,hmmpanther:PTHR22734:SF1,hmmpanther:PTHR22734,PROSITE_profiles:PS50833	RNA processing factor 1				ENSP00000359688		9-Aug									COSM3401040	9-Aug	.		ENST00000370654	Transcript			rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding	ENSG00000117133	g.chr1:84962001T>C	30350			MODERATE		3.29	medium	getma.org/?cm=msa&ty=f&p=RPF1_HUMAN&rb=146&re=319&var=L319P	NA	getma.org/?cm=var&var=hg19,1,84962001,T,C&fts=all	L319P	--	--	1																																			1	1		probably_damaging(0.999)	p.L319P	NM_025065	NP_079341		deleterious(0)	1	RPF1_HUMAN	RPF1	HGNC	Q9H9Y2	RPF1_HUMAN					8	1001	+			UPI0000034DF7	319			RNA-binding (By similarity).|Brix.		SNV	RPF1,missense_variant,p.Leu319Pro,ENST00000370654,NM_025065.6;GNG5,downstream_gene_variant,,ENST00000370641,;GNG5,downstream_gene_variant,,ENST00000370645,NM_005274.2;GNG5,downstream_gene_variant,,ENST00000487806,;	uc001djv.3	c.956T>C	971/1385	3	3			c.956T>C						1	SNP	c.(955-957)CTT>CCT	13	13				0	Broad	RNA processing factor 1			84962001		0.323	ENSG00000117133	13327	g.chr1:84962001T>C	rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding							199.74049	KEEP	25	34	-1	41	34	25	34	-1	200.044028	41	34	0.446281	1	0	0	0	0	1	0	0	0	--	--		0	C				253	GBM-41-2575-TP	p.L319P	T	TTAAGGTCTCTTCAGAAAGGA	NM_025065	NP_079341	84962001	Q9H9Y2	RPF1_HUMAN	0			8	1001	+	C	C			Missense_Mutation	319			RNA-binding (By similarity).|Brix.			
RPF1	0	broad.mit.edu	GRCh37	1	84961638	84961638	+	stop_gained	Nonsense_Mutation	SNP	C	C	G			TCGA-87-5896-01	TCGA-87-5896-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370654.5:c.773C>G	p.Ser258Ter	p.S258*	ENST00000370654	NM_025065.6	258	tCa/tGa	0			1			G	S/*	uc001djv.3	protein_coding	YES	CCDS695.1			773/1050										0	c.(772-774)TCA>TGA			Superfamily_domains:SSF52954,SMART_domains:SM00879,Pfam_domain:PF04427,Gene3D:1w94A00,hmmpanther:PTHR22734:SF1,hmmpanther:PTHR22734,PROSITE_profiles:PS50833	RNA processing factor 1				ENSP00000359688		9-Jul									COSM3401039	9-Jul	.		ENST00000370654	Transcript			rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding	ENSG00000117133	g.chr1:84961638C>G	30350			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,84961638,C,G&fts=all	S258*	--	--	1																																			1	1			p.S258*	NM_025065	NP_079341			1	RPF1_HUMAN	RPF1	HGNC	Q9H9Y2	RPF1_HUMAN					7	818	+			UPI0000034DF7	258			Brix.		SNV	RPF1,stop_gained,p.Ser258Ter,ENST00000370654,NM_025065.6;GNG5,downstream_gene_variant,,ENST00000370641,;GNG5,downstream_gene_variant,,ENST00000370645,NM_005274.2;GNG5,downstream_gene_variant,,ENST00000487806,;	uc001djv.3	c.773C>G	788/1385	5	3			c.773C>G						1	SNP	c.(772-774)TCA>TGA	4	4				0	Broad	RNA processing factor 1			84961638		0.373	ENSG00000117133	13327	g.chr1:84961638C>G	rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding							42.986738	KEEP	7	10	-1	18	24	7	10	-1	45.239929	18	24	0.283019	1	0	0	0	0	0	1	0	0	--	--		0	G				291	GBM-87-5896-TP	p.S258*	C	CTGGGTCATTCAATTGGACGT	NM_025065	NP_079341	84961638	Q9H9Y2	RPF1_HUMAN	0			7	818	+	G	G			Nonsense_Mutation	258			Brix.			
RPF2	0	broad.mit.edu	GRCh37	6	111329240	111329240	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A			TCGA-12-1597-01	TCGA-12-1597-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000441448.2:c.394-1G>A		p.X132_splice	ENST00000441448	NM_032194.1			0			1			A		uc003pun.2	protein_coding	YES	CCDS5088.1			394/921									ovary(2)	2	c.e7-1				brix domain containing 1				ENSP00000402338			0.00098		9.57E-05		0.0118	0.000305	0.00265	0.000146	rs767564816,COSM1311461,COSM3748315		common_variant		ENST00000441448	Transcript				nucleolus	protein binding	ENSG00000197498	g.chr6:111329240G>A	20870			HIGH	9-Jun							--	--	1																																		RPF2_uc003puo.2_Splice_Site_p.N69_splice	0,1,1	1			p.N132_splice	NM_032194	NP_115570			0,1,1	RPF2_HUMAN	RPF2	HGNC	Q9H7B2	RPF2_HUMAN			Q5VXN0_HUMAN		7	413	+			UPI000006E56D						SNV	RPF2,splice_acceptor_variant,,ENST00000441448,NM_032194.1;RPF2,splice_acceptor_variant,,ENST00000425871,;RNU6-906P,downstream_gene_variant,,ENST00000384700,;RPF2,splice_acceptor_variant,,ENST00000607388,;RPF2,splice_acceptor_variant,,ENST00000368864,;	uc003pun.2	c.394_splice	-/1531	5	1			c.394_splice						6	SNP	c.e7-1	53	53			ovary(2)	2	Broad	brix domain containing 1			111329240		0.229	ENSG00000197498	13328	g.chr6:111329240G>A		nucleolus	protein binding							-0.927108	KEEP	10	6	-1	43	29	10	6	-1	9.881479	43	29	0.102941	1	0	0	0	0	0	0	0	1	--	--		0	A			RPF2_uc003puo.2_Splice_Site_p.N69_splice	124	GBM-12-1597-TP	p.N132_splice	G	TTTTTTTTTAGAACAGTAAAT	NM_032194	NP_115570	111329240	Q9H7B2	RPF2_HUMAN	0			7	413	+	A	A			Splice_Site							
RPGRIP1	0	broad.mit.edu	GRCh37	14	21793505	21793505	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-27-1831-01	TCGA-27-1831-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400017.2:c.2330C>A	p.Thr777Asn	p.T777N	ENST00000400017	NM_020366.3	777	aCc/aAc	0			1			A	T/N	uc001wag.2	protein_coding	YES	CCDS45080.1			2330/3861									ovary(4)|breast(2)|pancreas(1)	7	c.(2329-2331)ACC>AAC			hmmpanther:PTHR14240,hmmpanther:PTHR14240:SF3	retinitis pigmentosa GTPase regulator				ENSP00000382895		15/24									COSM3401216,COSM3401215,COSM3401214	15/24	.		ENST00000400017	Transcript	1		response to stimulus|visual perception	cilium		ENSG00000092200	g.chr14:21793505C>A	13436			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=RPGR1_HUMAN&rb=758&re=930&var=T777N	NA	getma.org/?cm=var&var=hg19,14,21793505,C,A&fts=all	T777N	--	--	1																																		RPGRIP1_uc001wah.2_Missense_Mutation_p.T419N|RPGRIP1_uc001wai.2_Intron|RPGRIP1_uc001wak.2_Missense_Mutation_p.T252N|RPGRIP1_uc010aim.2_Missense_Mutation_p.T160N|RPGRIP1_uc001wal.2_Missense_Mutation_p.T136N|RPGRIP1_uc001wam.2_Missense_Mutation_p.T94N	1,1,1	1		benign(0.095)	p.T777N	NM_020366	NP_065099		deleterious(0.01)	1,1,1	RPGR1_HUMAN	RPGRIP1	HGNC	Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)			15	2330	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	UPI0000071B81	777					SNV	RPGRIP1,missense_variant,p.Thr777Asn,ENST00000206660,;RPGRIP1,missense_variant,p.Thr777Asn,ENST00000400017,NM_020366.3;RPGRIP1,missense_variant,p.Thr739Asn,ENST00000557771,;RPGRIP1,missense_variant,p.Thr252Asn,ENST00000555587,;RPGRIP1,missense_variant,p.Thr136Asn,ENST00000307974,;RPGRIP1,intron_variant,,ENST00000556336,;RPGRIP1,intron_variant,,ENST00000382933,;RPGRIP1,downstream_gene_variant,,ENST00000557351,;RPGRIP1,downstream_gene_variant,,ENST00000554303,;RPGRIP1,upstream_gene_variant,,ENST00000557606,;RPGRIP1,non_coding_transcript_exon_variant,,ENST00000553500,;RPGRIP1,3_prime_UTR_variant,,ENST00000555322,;RPGRIP1,3_prime_UTR_variant,,ENST00000555489,;RPGRIP1,non_coding_transcript_exon_variant,,ENST00000553927,;	uc001wag.2	c.2330C>A	2330/3940	1	1			c.2330C>A						14	SNP	c.(2329-2331)ACC>AAC	55	55			ovary(4)|breast(2)|pancreas(1)	7	Broad	retinitis pigmentosa GTPase regulator			21793505		0.542	ENSG00000092200	13330	g.chr14:21793505C>A	response to stimulus|visual perception	cilium				1408			1408	49.200924	KEEP	12	6	0.333333333	6	7	12	6	0.333333333	49.268181	6	7	0.551724	1	0	0	0	0	1	0	0	0	--	--		0	A			RPGRIP1_uc001wah.2_Missense_Mutation_p.T419N|RPGRIP1_uc001wai.2_Intron|RPGRIP1_uc001wak.2_Missense_Mutation_p.T252N|RPGRIP1_uc010aim.2_Missense_Mutation_p.T160N|RPGRIP1_uc001wal.2_Missense_Mutation_p.T136N|RPGRIP1_uc001wam.2_Missense_Mutation_p.T94N	190	GBM-27-1831-TP	p.T777N	C	TACCTGTCAACCGATGTGCTT	NM_020366	NP_065099	21793505	Q96KN7	RPGR1_HUMAN	0	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	15	2330	+	A	A	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Missense_Mutation	777						
RPGRIP1L	0	broad.mit.edu	GRCh37	16	53671674	53671674	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-2554-01	TCGA-14-2554-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379925.3:c.3153G>A	p.Gln1051=	p.Q1051=	ENST00000379925	NM_015272.2	1051	caG/caA	0			1			T	Q	uc002ehp.2	protein_coding	YES	CCDS32447.1			3153/3948									ovary(1)	1	c.(3151-3153)CAG>CAA			hmmpanther:PTHR14240,hmmpanther:PTHR14240:SF4	RPGRIP1-like isoform a				ENSP00000369257		21/27									COSM3402364	21/27	.		ENST00000379925	Transcript	1		negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	ENSG00000103494	g.chr16:53671674C>T	29168			LOW								--	--	1																																		RPGRIP1L_uc002eho.3_Silent_p.Q1017Q|RPGRIP1L_uc010vgy.1_Silent_p.Q1051Q|RPGRIP1L_uc010cbx.2_Silent_p.Q1017Q|RPGRIP1L_uc010vgz.1_Silent_p.Q1051Q	1	1			p.Q1051Q	NM_015272	NP_056087			1	FTM_HUMAN	RPGRIP1L	HGNC	Q68CZ1	FTM_HUMAN			J3QLR9_HUMAN,I3L2P2_HUMAN,H3BPF5_HUMAN		21	3217	-		all_cancers(37;0.0973)	UPI000047DAF2	1051					SNV	RPGRIP1L,synonymous_variant,p.=,ENST00000262135,NM_001127897.1;RPGRIP1L,synonymous_variant,p.=,ENST00000379925,NM_015272.2;RPGRIP1L,synonymous_variant,p.=,ENST00000563746,;RPGRIP1L,synonymous_variant,p.=,ENST00000564374,;RPGRIP1L,non_coding_transcript_exon_variant,,ENST00000568009,;	uc002ehp.2	c.3153G>A	3204/5297	2	2			c.3153G>A						16	SNP	c.(3151-3153)CAG>CAA	25	25			ovary(1)	1	Broad	RPGRIP1-like isoform a			53671674		0.373	ENSG00000103494	13331	g.chr16:53671674C>T	negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding							238.801158	KEEP	37	47	-1	77	74	37	47	-1	242.795975	77	74	0.358407	1	0	0	0	0	0	0	1	0	--	--		0	T			RPGRIP1L_uc002eho.3_Silent_p.Q1017Q|RPGRIP1L_uc010vgy.1_Silent_p.Q1051Q|RPGRIP1L_uc010cbx.2_Silent_p.Q1017Q|RPGRIP1L_uc010vgz.1_Silent_p.Q1051Q	150	GBM-14-2554-TP	p.Q1051Q	C	GTTCTGCAAGCTGACCTTCAG	NM_015272	NP_056087	53671674	Q68CZ1	FTM_HUMAN	0			21	3217	-	T	T		all_cancers(37;0.0973)	Silent	1051						
RPGRIP1L	0	broad.mit.edu	GRCh37	16	53686572	53686572	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-4210-01	TCGA-32-4210-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379925.3:c.2027A>G	p.Asn676Ser	p.N676S	ENST00000379925	NM_015272.2	676	aAt/aGt	0			1			C	N/S	uc002ehp.2	protein_coding	YES	CCDS32447.1			2027/3948									ovary(1)	1	c.(2026-2028)AAT>AGT			Pfam_domain:PF11618,hmmpanther:PTHR14240,hmmpanther:PTHR14240:SF4,SMART_domains:SM00239,Superfamily_domains:SSF49562	RPGRIP1-like isoform a				ENSP00000369257		15/27									COSM3402365	15/27	.		ENST00000379925	Transcript	1		negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	ENSG00000103494	g.chr16:53686572T>C	29168			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=FTM_HUMAN&rb=631&re=738&var=N676S	getma.org/pdb.php?prot=FTM_HUMAN&from=631&to=738&var=N676S	getma.org/?cm=var&var=hg19,16,53686572,T,C&fts=all	N676S	--	--	1																																		RPGRIP1L_uc002eho.3_Missense_Mutation_p.N676S|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.N676S|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.N676S|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.N676S	1	1		benign(0.003)	p.N676S	NM_015272	NP_056087		tolerated(0.39)	1	FTM_HUMAN	RPGRIP1L	HGNC	Q68CZ1	FTM_HUMAN			J3QLR9_HUMAN,I3L2P2_HUMAN,H3BPF5_HUMAN		15	2091	-		all_cancers(37;0.0973)	UPI000047DAF2	676			C2 1.		SNV	RPGRIP1L,missense_variant,p.Asn676Ser,ENST00000262135,NM_001127897.1;RPGRIP1L,missense_variant,p.Asn676Ser,ENST00000379925,NM_015272.2;RPGRIP1L,missense_variant,p.Asn676Ser,ENST00000563746,;RPGRIP1L,missense_variant,p.Asn676Ser,ENST00000564374,;RPGRIP1L,downstream_gene_variant,,ENST00000565343,;	uc002ehp.2	c.2027A>G	2078/5297	4	4			c.2027A>G						16	SNP	c.(2026-2028)AAT>AGT	34	34			ovary(1)	1	Broad	RPGRIP1-like isoform a			53686572		0.378	ENSG00000103494	13331	g.chr16:53686572T>C	negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding							136.502876	KEEP	22	23	-1	44	52	22	23	-1	140.791121	44	52	0.311111	1	0	0	0	0	1	0	0	0	--	--		0	C			RPGRIP1L_uc002eho.3_Missense_Mutation_p.N676S|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.N676S|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.N676S|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.N676S	245	GBM-32-4210-TP	p.N676S	T	GGTGATAGTATTCTTCTGAAT	NM_015272	NP_056087	53686572	Q68CZ1	FTM_HUMAN	0			15	2091	-	C	C		all_cancers(37;0.0973)	Missense_Mutation	676			C2 1.			
RPH3A	0	broad.mit.edu	GRCh37	12	113313505	113313505	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389385.4:c.905C>T	p.Pro302Leu	p.P302L	ENST00000389385	NM_001143854.1	302	cCg/cTg	0			1			T	P/L	uc010syl.1	protein_coding	YES	CCDS44979.1			905/2085									ovary(3)|central_nervous_system(2)|skin(2)	7	c.(904-906)CCG>CTG			hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF118,Low_complexity_(Seg):seg	rabphilin 3A homolog isoform 1				ENSP00000374036		22-Dec									COSM1663964	22-Dec	.		ENST00000389385	Transcript			intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	ENSG00000089169	g.chr12:113313505C>T	17056			MODERATE		1.155	low	getma.org/?cm=msa&ty=f&p=RP3A_HUMAN&rb=297&re=408&var=P302L	NA	getma.org/?cm=var&var=hg19,12,113313505,C,T&fts=all	P302L	--	--	1																																		RPH3A_uc001ttz.2_Missense_Mutation_p.P302L|RPH3A_uc001tty.2_Missense_Mutation_p.P298L|RPH3A_uc009zwe.1_Missense_Mutation_p.P298L|RPH3A_uc010sym.1_Missense_Mutation_p.P253L|RPH3A_uc001tua.2_Missense_Mutation_p.P62L	1	1		benign(0.032)	p.P302L	NM_001143854	NP_001137326		tolerated(0.15)	1	RP3A_HUMAN	RPH3A	HGNC	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	F8W1K7_HUMAN,F8W1A3_HUMAN,F8W131_HUMAN,F8W116_HUMAN,F8VZS2_HUMAN,F8VVK8_HUMAN,F8VV58_HUMAN,F8VTR7_HUMAN,F8VR41_HUMAN,F8VNW3_HUMAN,F8VNU2_HUMAN,F8VNP7_HUMAN		12	1267	+			UPI000013456D	302			Pro-rich.		SNV	RPH3A,missense_variant,p.Pro302Leu,ENST00000389385,NM_001143854.1,NM_014954.3;RPH3A,missense_variant,p.Pro302Leu,ENST00000415485,;RPH3A,missense_variant,p.Pro253Leu,ENST00000447659,;RPH3A,missense_variant,p.Pro302Leu,ENST00000420983,;RPH3A,missense_variant,p.Pro298Leu,ENST00000551052,;RPH3A,missense_variant,p.Pro302Leu,ENST00000543106,;RPH3A,missense_variant,p.Pro253Leu,ENST00000548866,;RPH3A,non_coding_transcript_exon_variant,,ENST00000549913,;RPH3A,non_coding_transcript_exon_variant,,ENST00000552755,;	uc010syl.1	c.905C>T	1402/4679	1	1			c.905C>T						12	SNP	c.(904-906)CCG>CTG	2	2			ovary(3)|central_nervous_system(2)|skin(2)	7	Broad	rabphilin 3A homolog isoform 1			113313505		0.577	ENSG00000089169	13332	g.chr12:113313505C>T	intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding							85.356884	KEEP	19	22	-1	54	61	19	22	-1	93.155888	54	61	0.244275	1	0	0	0	0	1	0	0	0	--	--		0	T			RPH3A_uc001ttz.2_Missense_Mutation_p.P302L|RPH3A_uc001tty.2_Missense_Mutation_p.P298L|RPH3A_uc009zwe.1_Missense_Mutation_p.P298L|RPH3A_uc010sym.1_Missense_Mutation_p.P253L|RPH3A_uc001tua.2_Missense_Mutation_p.P62L	207	GBM-28-1753-TP	p.P302L	C	GGAAGCAGACCGGGTCCTGGG	NM_001143854	NP_001137326	113313505	Q9Y2J0	RP3A_HUMAN	0		BRCA - Breast invasive adenocarcinoma(302;0.00453)	12	1267	+	T	T			Missense_Mutation	302			Pro-rich.			
RPL10L	140801	broad.mit.edu	GRCh37	14	47120841	47120841	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-06-2563-01	TCGA-06-2563-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298283.3:c.99del	p.Phe34LeufsTer44	p.F34Lfs*44	ENST00000298283	NM_080746.2	33	atC/at	0			1			-	I/X	uc001wwg.2	protein_coding	YES	CCDS32071.1			99/645									ovary(1)	1	c.(97-99)ATCfs			Gene3D:3.90.1170.10,Pfam_domain:PF00252,PIRSF_domain:PIRSF005590,hmmpanther:PTHR11726,hmmpanther:PTHR11726:SF9,Superfamily_domains:SSF54686,TIGRFAM_domain:TIGR00279	ribosomal protein L10-like protein				ENSP00000298283		1-Jan									COSM2152876	1-Jan	.		ENST00000298283	Transcript			spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	ENSG00000165496	g.chr14:47120841delG	17976			HIGH								--	--	1																																			1	1			p.I33fs	NM_080746	NP_542784			1	RL10L_HUMAN	RPL10L	HGNC	Q96L21	RL10L_HUMAN					1	188	-			UPI0000073CA8	33					deletion	RPL10L,frameshift_variant,p.Phe34LeufsTer44,ENST00000298283,NM_080746.2;	uc001wwg.2	c.99delC	188/807	5	5			c.99delC						14	DEL	c.(97-99)ATCfs	48	48			ovary(1)	1	Broad	ribosomal protein L10-like protein			47120841		0.537	ENSG00000165496	13337	g.chr14:47120841delG	spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome																				0.41	1	1	0	1	0	0	0	0	0	--	--		0	-				86	GBM-06-2563-TP	p.I33fs	G	CCAGGTCAAAGATGCGGATCT	NM_080746	NP_542784	47120841	Q96L21	RL10L_HUMAN	0			1	188	-	-	-			Frame_Shift_Del	33						
RPL11	6135	broad.mit.edu	GRCh37	1	24018320	24018320	+	splice_donor_variant	Splice_Site	SNP	G	G	C			TCGA-02-0047-01	TCGA-02-0047-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374550.3:c.6+1G>C		p.X2_splice	ENST00000374550	NM_000975.3	2		0			1			C		uc001bhk.2	protein_coding	YES	CCDS238.1			6/537									central_nervous_system(1)	1	c.e1+1				ribosomal protein L11				ENSP00000363676											COSM3400547		.		ENST00000374550	Transcript	1		endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome	ENSG00000142676	g.chr1:24018320G>C	10301			HIGH	5-Jan							--	--	1																																OREG0013231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	RPL11_uc001bhl.2_Splice_Site_p.A2_splice|RPL11_uc001bhm.2_5'Flank|RPL11_uc001bhn.1_5'Flank	1	1			p.A2_splice	NM_000975	NP_000966			1	RL11_HUMAN	RPL11	HGNC	P62913	RL11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)	Q5VVD0_HUMAN,Q5VVC9_HUMAN		1	26	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	UPI00000019F7						SNV	RPL11,splice_donor_variant,,ENST00000374550,NM_000975.3,NM_001199802.1;RPL11,upstream_gene_variant,,ENST00000443624,;RPL11,upstream_gene_variant,,ENST00000458455,;RPL11,upstream_gene_variant,,ENST00000482370,;RPL11,upstream_gene_variant,,ENST00000467075,;	uc001bhk.2	c.6_splice	-/634	5	3			c.6_splice						1	SNP	c.e1+1	13	13			central_nervous_system(1)	1	Broad	ribosomal protein L11			24018320		0.607	ENSG00000142676	13338	g.chr1:24018320G>C	endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome							-22.806811	KEEP	2	4	-1	78	74	2	4	-1	9.700205	78	74	0.029851	1	0	0	0	0	0	0	0	1	--	--		0	C	OREG0013231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	RPL11_uc001bhl.2_Splice_Site_p.A2_splice|RPL11_uc001bhm.2_5'Flank|RPL11_uc001bhn.1_5'Flank	3	GBM-02-0047-TP	p.A2_splice	G	CATCATGGCGGTGAGTAGCTG	NM_000975	NP_000966	24018320	P62913	RL11_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)	1	26	+	C	C		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	Splice_Site							
RPL11	0	broad.mit.edu	GRCh37	1	24019182	24019185	+	frameshift_variant	Frame_Shift_Del	DEL	AGAC	AGAC	-			TCGA-15-0742-01	TCGA-15-0742-01	AGAC	AGAC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374550.3:c.94_97delAGAC	p.Arg32Ter	p.R32*	ENST00000374550	NM_000975.3	30	ggAGAC/gg	0			1			-	GD/X	uc001bhk.2	protein_coding	YES	CCDS238.1			90-93/537									central_nervous_system(1)	1	c.(88-93)GGAGACfs			hmmpanther:PTHR11994,Gene3D:3.30.1440.10,Pfam_domain:PF00281,PIRSF_domain:PIRSF002161,Superfamily_domains:SSF55282	ribosomal protein L11				ENSP00000363676		6-Feb										6-Feb	.		ENST00000374550	Transcript	1		endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome	ENSG00000142676	g.chr1:24019182_24019185delAGAC	10301	4		HIGH								--	--	1																																		RPL11_uc001bhl.2_Frame_Shift_Del_p.G29fs|RPL11_uc001bhm.2_Frame_Shift_Del_p.G19fs|RPL11_uc001bhn.1_Frame_Shift_Del_p.G19fs		1			p.G30fs	NM_000975	NP_000966				RL11_HUMAN	RPL11	HGNC	P62913	RL11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)	Q5VVD0_HUMAN,Q5VVC9_HUMAN		2	110_113	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	UPI00000019F7	30_31	D -> G (in Ref. 1; CAA55816).				deletion	RPL11,frameshift_variant,p.Arg30Ter,ENST00000443624,;RPL11,frameshift_variant,p.Arg30Ter,ENST00000458455,;RPL11,frameshift_variant,p.Arg32Ter,ENST00000374550,NM_000975.3,NM_001199802.1;RPL11,non_coding_transcript_exon_variant,,ENST00000482370,;RPL11,non_coding_transcript_exon_variant,,ENST00000467075,;	uc001bhk.2	c.90_93delAGAC	135-138/634	5	5			c.90_93delAGAC						1	DEL	c.(88-93)GGAGACfs	47	47			central_nervous_system(1)	1	Broad	ribosomal protein L11			24019185		0.544	ENSG00000142676	13338	g.chr1:24019182_24019185delAGAC	endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome																				0.03	1	1	0	1	0	0	0	0	0	--	--		0	-			RPL11_uc001bhl.2_Frame_Shift_Del_p.G29fs|RPL11_uc001bhm.2_Frame_Shift_Del_p.G19fs|RPL11_uc001bhn.1_Frame_Shift_Del_p.G19fs	153	GBM-15-0742-TP	p.G30fs	AGAC	GGGAGAGTGGAGACAGACTGACGC	NM_000975	NP_000966	24019182	P62913	RL11_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)	2	110_113	+	-	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	Frame_Shift_Del	30_31	D -> G (in Ref. 1; CAA55816).					
RPL13AP20	387841		GRCh37	12	13028751	13028751	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	C			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000424500.1:n.319G>C		p.*107*	ENST00000424500				0																																																																																																																																																																																																																																												
RPL13AP6	644511		GRCh37	10	112696573	112696573	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000430133.1:n.419A>G		p.*140*	ENST00000430133				0																																																																																																																																																																																																																																												
RPL14P1	144581		GRCh37	12	63359117	63359117	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000266610.5:n.23C>T		p.*8*	ENST00000266610				0																																																																																																																																																																																																																																												
RPL15	6138	broad.mit.edu	GRCh37	3	23959481	23959481	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0219-01	TCGA-06-0219-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307839.5:c.131G>A	p.Arg44Gln	p.R44Q	ENST00000307839	NM_001253379.1	44	cGg/cAg	0			1			A	R/Q	uc003ccn.2	protein_coding	YES	CCDS2640.1			131/615									ovary(1)	1	c.(130-132)CGG>CAG			hmmpanther:PTHR11847,Gene3D:1vq8M00,Pfam_domain:PF00827,Superfamily_domains:SSF54189	ribosomal protein L15				ENSP00000309334		4-Feb									COSM2150982	4-Feb	.		ENST00000307839	Transcript	1		endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	ENSG00000174748	g.chr3:23959481G>A	10306			MODERATE		4.18	high	getma.org/?cm=msa&ty=f&p=RL15_HUMAN&rb=2&re=193&var=R44Q	getma.org/pdb.php?prot=RL15_HUMAN&from=2&to=193&var=R44Q	getma.org/?cm=var&var=hg19,3,23959481,G,A&fts=all	R44Q	--	--	1																																		NKIRAS1_uc003cck.2_Intron|NKIRAS1_uc003ccj.2_5'Flank|NKIRAS1_uc003ccl.2_5'Flank|NKIRAS1_uc003ccm.2_5'Flank|RPL15_uc011awi.1_Missense_Mutation_p.R44Q|RPL15_uc011awj.1_Missense_Mutation_p.R44Q|RPL15_uc003cco.2_Missense_Mutation_p.R44Q|RPL15_uc003ccp.2_Missense_Mutation_p.R44Q|RPL15_uc003ccq.2_Missense_Mutation_p.R44Q|RPL15_uc003ccr.2_Missense_Mutation_p.R44Q	1	1		benign(0.028)	p.R44Q	NM_002948	NP_002939		deleterious(0.04)	1	RL15_HUMAN	RPL15	HGNC	P61313	RL15_HUMAN			Q76N55_HUMAN,E7EX53_HUMAN,E7EQV9_HUMAN		2	167	+			UPI0000003E34	44					SNV	RPL15,missense_variant,p.Arg44Gln,ENST00000307839,NM_001253379.1,NM_002948.3,NM_001253380.1;RPL15,missense_variant,p.Arg44Gln,ENST00000456530,NM_001253384.1;RPL15,missense_variant,p.Arg44Gln,ENST00000413699,NM_001253382.1,NM_001253383.1;RPL15,missense_variant,p.Arg44Gln,ENST00000435882,;RPL15,missense_variant,p.Arg44Gln,ENST00000415719,;RPL15,missense_variant,p.Arg44Gln,ENST00000354811,;RPL15,missense_variant,p.Arg44Gln,ENST00000434031,;RPL15,missense_variant,p.Arg44Gln,ENST00000422218,;RPL15,missense_variant,p.Arg44Gln,ENST00000412097,;NKIRAS1,intron_variant,,ENST00000421515,;NKIRAS1,upstream_gene_variant,,ENST00000443659,;NKIRAS1,upstream_gene_variant,,ENST00000388759,;NKIRAS1,upstream_gene_variant,,ENST00000425478,NM_020345.3;NKIRAS1,upstream_gene_variant,,ENST00000437230,;NKIRAS1,upstream_gene_variant,,ENST00000415901,;NKIRAS1,upstream_gene_variant,,ENST00000412028,;NKIRAS1,upstream_gene_variant,,ENST00000416026,;RPL15,missense_variant,p.Arg44Gln,ENST00000436146,;RPL15,non_coding_transcript_exon_variant,,ENST00000490223,;RPL15,non_coding_transcript_exon_variant,,ENST00000465786,;	uc003ccn.2	c.131G>A	770/2730	2	2			c.131G>A						3	SNP	c.(130-132)CGG>CAG	42	42			ovary(1)	1	Broad	ribosomal protein L15			23959481		0.557	ENSG00000174748	13343	g.chr3:23959481G>A	endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome							96.892985	KEEP	20	19	-1	47	29	20	19	-1	98.650304	47	29	0.351648	1	0	0	0	0	1	0	0	0	--	--		0	A			NKIRAS1_uc003cck.2_Intron|NKIRAS1_uc003ccj.2_5'Flank|NKIRAS1_uc003ccl.2_5'Flank|NKIRAS1_uc003ccm.2_5'Flank|RPL15_uc011awi.1_Missense_Mutation_p.R44Q|RPL15_uc011awj.1_Missense_Mutation_p.R44Q|RPL15_uc003cco.2_Missense_Mutation_p.R44Q|RPL15_uc003ccp.2_Missense_Mutation_p.R44Q|RPL15_uc003ccq.2_Missense_Mutation_p.R44Q|RPL15_uc003ccr.2_Missense_Mutation_p.R44Q	52	GBM-06-0219-TP	p.R44Q	G	CGCCCCACCCGGCCTGATAAA	NM_002948	NP_002939	23959481	P61313	RL15_HUMAN	0			2	167	+	A	A			Missense_Mutation	44						
RPL22	6146	broad.mit.edu	GRCh37	1	6257784	6257785	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0749-01	TCGA-06-0749-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000234875.4:c.44dup	p.Lys16GlufsTer9	p.K16Efs*9	ENST00000234875	NM_000983.3	15	aag/aaAg	0			1			T	K/KX	uc001amd.2	protein_coding	YES	CCDS58.1			44-45/387	T		RUNX1		AML|CML					0	c.(43-45)AAGfs			Low_complexity_(Seg):seg,hmmpanther:PTHR10064:SF2,hmmpanther:PTHR10064,Pfam_domain:PF01776	ribosomal protein L22 proprotein				ENSP00000346088		4-Feb									rs777006564,COSM1343741	4-Feb	.		ENST00000234875	Transcript			endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome	ENSG00000116251	g.chr1:6257784_6257785insT	10315			HIGH								--	--	1																																		RPL22_uc001ame.2_Frame_Shift_Ins_p.K15fs	0,1	1			p.K15fs	NM_000983	NP_000974			0,1	RL22_HUMAN	RPL22	HGNC	P35268	RL22_HUMAN		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	Q8WYP0_HUMAN,K7ERI7_HUMAN,K7EP65_HUMAN,K7EMH1_HUMAN,K7ELC4_HUMAN,K7EJT5_HUMAN		2	90_91	-	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	UPI000015A487	15					insertion	RPL22,frameshift_variant,p.Lys16GlufsTer9,ENST00000234875,NM_000983.3;RPL22,5_prime_UTR_variant,,ENST00000465335,;RPL22,5_prime_UTR_variant,,ENST00000497965,;RPL22,5_prime_UTR_variant,,ENST00000462296,;RPL22,5_prime_UTR_variant,,ENST00000471204,;RPL22,5_prime_UTR_variant,,ENST00000465387,;RPL22,5_prime_UTR_variant,,ENST00000484532,;RPL22,non_coding_transcript_exon_variant,,ENST00000480661,;	uc001amd.2	c.44_45insA	83-84/2078	5	5			c.44_45insA	T		RUNX1		AML|CML	1	INS	c.(43-45)AAGfs	45	45				0	Broad	ribosomal protein L22 proprotein			6257785		0.401	ENSG00000116251	13349	g.chr1:6257784_6257785insT	endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome			148			148														0.27	1	0	0	1	1	0	0	0	0	--	--		0	T			RPL22_uc001ame.2_Frame_Shift_Ins_p.K15fs	69	GBM-06-0749-TP	p.K15fs	-	GAACTTGCTTCTTTTTTTTGCC	NM_000983	NP_000974	6257784	P35268	RL22_HUMAN	0		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	2	90_91	-	T	T	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	Frame_Shift_Ins	15						
RPL22L1	0	broad.mit.edu	GRCh37	3	170584263	170584263	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-5204-01	TCGA-28-5204-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295830.8:c.275A>G	p.Asp92Gly	p.D92G	ENST00000295830	NM_001099645.1	92	gAt/gGt	0			1			C	D/G	uc003fhc.3	protein_coding	YES	CCDS46955.1			275/369										0	c.(274-276)GAT>GGT			Pfam_domain:PF01776,hmmpanther:PTHR10064,hmmpanther:PTHR10064:SF1	ribosomal protein L22-like 1				ENSP00000346080		4-Apr									COSM3408425	4-Apr	.		ENST00000295830	Transcript			translation	ribosome	structural constituent of ribosome	ENSG00000163584	g.chr3:170584263T>C	27610			MODERATE		3.39	medium	getma.org/?cm=msa&ty=f&p=RL22L_HUMAN&rb=8&re=120&var=D92G	getma.org/pdb.php?prot=RL22L_HUMAN&from=8&to=120&var=D92G	getma.org/?cm=var&var=hg19,3,170584263,T,C&fts=all	D92G	--	--	1																																		RPL22L1_uc003fhb.3_RNA	1	1		probably_damaging(0.95)	p.D92G	NM_001099645	NP_001093115		deleterious(0.02)	1	RL22L_HUMAN	RPL22L1	HGNC	Q6P5R6	RL22L_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)				4	364	-	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		UPI000020A7AA	92					SNV	RPL22L1,missense_variant,p.Asp92Gly,ENST00000295830,NM_001099645.1;RPL22L1,missense_variant,p.Asp112Gly,ENST00000466674,;RPL22L1,missense_variant,p.Asp91Gly,ENST00000463836,;RPL22L1,3_prime_UTR_variant,,ENST00000494771,;RPL22L1,3_prime_UTR_variant,,ENST00000475836,;RPL22L1,non_coding_transcript_exon_variant,,ENST00000478578,;	uc003fhc.3	c.275A>G	591/2190	3	3			c.275A>G						3	SNP	c.(274-276)GAT>GGT	8	8				0	Broad	ribosomal protein L22-like 1			170584263		0.353	ENSG00000163584	13350	g.chr3:170584263T>C	translation	ribosome	structural constituent of ribosome							45.837896	KEEP	8	7	-1	13	10	8	7	-1	46.228369	13	10	0.388889	1	0	0	0	0	1	0	0	0	--	--		0	C			RPL22L1_uc003fhb.3_RNA	215	GBM-28-5204-TP	p.D92G	T	TCGAAGCCAATCACGAAGATT	NM_001099645	NP_001093115	170584263	Q6P5R6	RL22L_HUMAN	0	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		4	364	-	C	C	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		Missense_Mutation	92						
RPL32	0	broad.mit.edu	GRCh37	3	12880946	12880946	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-12-3652-01	TCGA-12-3652-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396953.2:c.180T>C	p.Tyr60=	p.Y60=	ENST00000396953		60	taT/taC	0			1			G	Y	uc003bxl.2	protein_coding		CCDS2614.1			180/408									ovary(1)	1	c.(178-180)TAT>TAC			hmmpanther:PTHR23413:SF3,hmmpanther:PTHR23413,Pfam_domain:PF01655,Superfamily_domains:0037550	ribosomal protein L32				ENSP00000380156		3-Feb									COSM3408210	3-Feb	.		ENST00000396953	Transcript			endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome	ENSG00000144713	g.chr3:12880946A>G	10336			LOW								--	--	1																																		RPL32_uc003bxm.2_Silent_p.Y60Y|RPL32_uc003bxn.2_Silent_p.Y60Y	1				p.Y60Y	NM_001007074	NP_001007075			1	RL32_HUMAN	RPL32	HGNC	P62910	RL32_HUMAN			D3YTI8_HUMAN,D3YTB1_HUMAN		2	393	-			UPI0000001684	60					SNV	RPL32,synonymous_variant,p.=,ENST00000429711,NM_000994.3;RPL32,synonymous_variant,p.=,ENST00000396957,NM_001007073.1,NM_001007074.1;RPL32,synonymous_variant,p.=,ENST00000396953,;RPL32,synonymous_variant,p.=,ENST00000435983,;RPL32,synonymous_variant,p.=,ENST00000273223,;RPL32,synonymous_variant,p.=,ENST00000457131,;RPL32,synonymous_variant,p.=,ENST00000434963,;CAND2,intron_variant,,ENST00000454887,;CAND2,downstream_gene_variant,,ENST00000456430,NM_001162499.1;CAND2,downstream_gene_variant,,ENST00000295989,NM_012298.2;SNORA7A,downstream_gene_variant,,ENST00000384765,NR_002582.1;RPL32,non_coding_transcript_exon_variant,,ENST00000452606,;	uc003bxl.2	c.180T>C	1472/1734	3	3			c.180T>C						3	SNP	c.(178-180)TAT>TAC	58	58			ovary(1)	1	Broad	ribosomal protein L32			12880946		0.483	ENSG00000144713	13363	g.chr3:12880946A>G	endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome							501.887784	KEEP	104	82	-1	156	148	104	82	-1	506.391738	156	148	0.390698	1	0	0	0	0	0	0	1	0	--	--		0	G			RPL32_uc003bxm.2_Silent_p.Y60Y|RPL32_uc003bxn.2_Silent_p.Y60Y	127	GBM-12-3652-TP	p.Y60Y	A	TGTTGCTTCCATAACCAATGT	NM_001007074	NP_001007075	12880946	P62910	RL32_HUMAN	0			2	393	-	G	G			Silent	60						
RPL32	0	broad.mit.edu	GRCh37	3	12881707	12881707	+	synonymous_variant	Silent	SNP	G	G	A	rs144517633		TCGA-27-1834-01	TCGA-27-1834-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396953.2:c.30C>T	p.Pro10=	p.P10=	ENST00000396953		10	ccC/ccT	0	A:0.0002		1			A	P	uc003bxl.2	protein_coding		CCDS2614.1			30/408									ovary(1)	1	c.(28-30)CCC>CCT			Low_complexity_(Seg):seg,hmmpanther:PTHR23413:SF3,hmmpanther:PTHR23413,Superfamily_domains:0037550	ribosomal protein L32			A:0	ENSP00000380156		3-Jan	8.24E-06	9.65E-05							rs144517633,COSM3408212	3-Jan	.		ENST00000396953	Transcript			endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome	ENSG00000144713	g.chr3:12881707G>A	10336			LOW								--	--	1																																		RPL32_uc003bxm.2_Silent_p.P10P|RPL32_uc003bxn.2_Silent_p.P10P	0,1				p.P10P	NM_001007074	NP_001007075			0,1	RL32_HUMAN	RPL32	HGNC	P62910	RL32_HUMAN			D3YTI8_HUMAN,D3YTB1_HUMAN		1	243	-			UPI0000001684	10					SNV	RPL32,synonymous_variant,p.=,ENST00000429711,NM_000994.3;RPL32,synonymous_variant,p.=,ENST00000396957,NM_001007073.1,NM_001007074.1;RPL32,synonymous_variant,p.=,ENST00000396953,;RPL32,synonymous_variant,p.=,ENST00000435983,;RPL32,synonymous_variant,p.=,ENST00000273223,;RPL32,synonymous_variant,p.=,ENST00000457131,;RPL32,synonymous_variant,p.=,ENST00000434963,;CAND2,intron_variant,,ENST00000454887,;SNORA7A,downstream_gene_variant,,ENST00000384765,NR_002582.1;RPL32,non_coding_transcript_exon_variant,,ENST00000452606,;	uc003bxl.2	c.30C>T	1322/1734	2	2			c.30C>T						3	SNP	c.(28-30)CCC>CCT	24	24			ovary(1)	1	Broad	ribosomal protein L32			12881707		0.537	ENSG00000144713	13363	g.chr3:12881707G>A	endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome							69.05054	KEEP	30	31	-1	230	242	30	31	-1	143.557701	230	242	0.114173	1	0	0	0	0	0	0	1	0	--	--		0	A			RPL32_uc003bxm.2_Silent_p.P10P|RPL32_uc003bxn.2_Silent_p.P10P	193	GBM-27-1834-TP	p.P10P	G	TGACGATCTTGGGCTTCACAA	NM_001007074	NP_001007075	12881707	P62910	RL32_HUMAN	0			1	243	-	A	A			Silent	10						
RPL36A	0	broad.mit.edu	GRCh37	X	100646453	100646453	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01	TCGA-41-5651-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000553110.3:c.10G>A	p.Val4Ile	p.V4I	ENST00000553110		4	Gtc/Atc	0			1			A	V/I	uc004ehk.2	protein_coding					10/321										0	c.(10-12)GTC>ATC			Superfamily_domains:SSF57829,Gene3D:1vq8300,hmmpanther:PTHR10369:SF6,hmmpanther:PTHR10369	ribosomal protein L36a				ENSP00000446503		5-Feb									COSM3405777,COSM3405776	5-Feb	.		ENST00000553110	Transcript			endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome	ENSG00000241343	g.chrX:100646453G>A	10359			MODERATE		0.565	neutral	getma.org/?cm=msa&ty=f&p=RL36L_HUMAN&rb=1&re=46&var=V4I	getma.org/pdb.php?prot=RL36L_HUMAN&from=1&to=16&var=V4I	getma.org/?cm=var&var=hg19,X,100646453,G,A&fts=all	V4I	--	--	1																																		BTK_uc010nno.2_5'Flank|RPL36A_uc004ehj.1_Missense_Mutation_p.V4I	1,1			benign(0.001)	p.V4I	NM_021029	NP_066357		tolerated(0.35)	1,1	RL36A_HUMAN	RPL36A	HGNC	P83881	RL36A_HUMAN			R4GN19_HUMAN		2	94	+			UPI000000D93C	4					SNV	RPL36A,missense_variant,p.Val40Ile,ENST00000427805,NM_021029.5;RPL36A,missense_variant,p.Val23Ile,ENST00000392994,;RPL36A-HNRNPH2,missense_variant,p.Val15Ile,ENST00000409338,;RPL36A-HNRNPH2,missense_variant,p.Val15Ile,ENST00000409170,;RPL36A,missense_variant,p.Val4Ile,ENST00000553110,;RPL36A,5_prime_UTR_variant,,ENST00000471855,;RPL36A,missense_variant,p.Val14Ile,ENST00000372849,;RPL36A,non_coding_transcript_exon_variant,,ENST00000465340,;RPL36A,non_coding_transcript_exon_variant,,ENST00000465744,;RPL36A,non_coding_transcript_exon_variant,,ENST00000491851,;RPL36A,upstream_gene_variant,,ENST00000489407,;	uc004ehk.2	c.10G>A	94/451	2	2			c.10G>A						23	SNP	c.(10-12)GTC>ATC	30	30				0	Broad	ribosomal protein L36a			100646453		0.498	ENSG00000241343	13368	g.chrX:100646453G>A	endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome							238.123213	KEEP	55	44	-1	125	134	55	44	-1	250.948688	125	134	0.286624	1	0	0	0	0	1	0	0	0	--	--		0	A			BTK_uc010nno.2_5'Flank|RPL36A_uc004ehj.1_Missense_Mutation_p.V4I	258	GBM-41-5651-TP	p.V4I	G	CTAGGTTAACGTCCCTAAAAC	NM_021029	NP_066357	100646453	P83881	RL36A_HUMAN	0			2	94	+	A	A			Missense_Mutation	4						
RPL5	6125	broad.mit.edu	GRCh37	1	93299218	93299218	+	splice_donor_variant	Splice_Site	SNP	G	G	C			TCGA-02-0047-01	TCGA-02-0047-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370321.3:c.189+1G>C		p.X63_splice	ENST00000370321	NM_000969.3	63		0			1			C		uc001doz.2	protein_coding	YES	CCDS741.1			189/894										0	c.e3+1				ribosomal protein L5				ENSP00000359345											COSM3401091		.		ENST00000370321	Transcript	1		endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	ENSG00000122406	g.chr1:93299218G>C	10360			HIGH	7-Mar							--	--	1																																		FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_Splice_Site|RPL5_uc001dpb.2_Splice_Site_p.Q13_splice|RPL5_uc001dpd.2_5'Flank	1	1			p.Q63_splice	NM_000969	NP_000960			1	RL5_HUMAN	RPL5	HGNC	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	R4GNJ2_HUMAN,Q5T7N0_HUMAN,Q8WYP1_HUMAN,B3KTM6_HUMAN,A2RUM7_HUMAN		3	267	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	UPI00000702C9						SNV	RPL5,splice_donor_variant,,ENST00000370321,NM_000969.3;RPL5,splice_donor_variant,,ENST00000315741,;SNORD21,upstream_gene_variant,,ENST00000383953,NR_000006.8;SNORA66,upstream_gene_variant,,ENST00000515986,;RPL5,splice_donor_variant,,ENST00000461952,;RPL5,splice_donor_variant,,ENST00000470843,;RPL5,upstream_gene_variant,,ENST00000497519,;	uc001doz.2	c.189_splice	-/1043	5	3			c.189_splice						1	SNP	c.e3+1	53	53				0	Broad	ribosomal protein L5			93299218		0.393	ENSG00000122406	13378	g.chr1:93299218G>C	endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome							-11.143564	KEEP	1	2	-1	48	33	1	2	-1	6.811402	48	33	0.038462	1	0	0	0	0	0	0	0	1	--	--		0	C			FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_Splice_Site|RPL5_uc001dpb.2_Splice_Site_p.Q13_splice|RPL5_uc001dpd.2_5'Flank	3	GBM-02-0047-TP	p.Q63_splice	G	CATTTGTCAGGTAAGTTGTAT	NM_000969	NP_000960	93299218	P46777	RL5_HUMAN	0		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	3	267	+	C	C		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	Splice_Site							
RPL5	6125	broad.mit.edu	GRCh37	1	93301746	93301746	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C			TCGA-06-0154-01	TCGA-06-0154-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370321.3:c.325-1G>C		p.X109_splice	ENST00000370321	NM_000969.3	109		0			1			C		uc001doz.2	protein_coding	YES	CCDS741.1			325/894										0	c.e5-1				ribosomal protein L5				ENSP00000359345											COSM3401093		.		ENST00000370321	Transcript	1		endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	ENSG00000122406	g.chr1:93301746G>C	10360			HIGH	7-Apr							--	--	1																																		FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_Intron|RPL5_uc001dpb.2_Splice_Site_p.L59_splice|RPL5_uc001dpd.2_5'Flank|SNORD21_uc001dpe.2_5'Flank	1	1			p.L109_splice	NM_000969	NP_000960			1	RL5_HUMAN	RPL5	HGNC	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	R4GNJ2_HUMAN,Q5T7N0_HUMAN,Q8WYP1_HUMAN,B3KTM6_HUMAN,A2RUM7_HUMAN		5	403	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	UPI00000702C9						SNV	RPL5,splice_acceptor_variant,,ENST00000370321,NM_000969.3;RPL5,splice_acceptor_variant,,ENST00000315741,;SNORA66,upstream_gene_variant,,ENST00000384792,NR_002444.2;SNORD21,upstream_gene_variant,,ENST00000383953,NR_000006.8;SNORA66,upstream_gene_variant,,ENST00000515986,;RPL5,splice_acceptor_variant,,ENST00000461952,;RPL5,splice_acceptor_variant,,ENST00000470843,;RPL5,upstream_gene_variant,,ENST00000497519,;	uc001doz.2	c.325_splice	-/1043	5	3			c.325_splice						1	SNP	c.e5-1	8	8				0	Broad	ribosomal protein L5			93301746		0.398	ENSG00000122406	13378	g.chr1:93301746G>C	endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome							-47.109157	KEEP	2	2	-1	141	106	2	2	-1	8.969984	141	106	0.018605	1	0	0	0	0	0	0	0	1	--	--		0	C			FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_Intron|RPL5_uc001dpb.2_Splice_Site_p.L59_splice|RPL5_uc001dpd.2_5'Flank|SNORD21_uc001dpe.2_5'Flank	26	GBM-06-0154-TP	p.L109_splice	G	TTCTTGAATAGCTTCTCAATA	NM_000969	NP_000960	93301746	P46777	RL5_HUMAN	0		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	5	403	+	C	C		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	Splice_Site							
RPL5	6125	broad.mit.edu	GRCh37	1	93299200	93299201	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	-			TCGA-06-0211-01	TCGA-06-0211-01	AG	AG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370321.3:c.175_176del	p.Asp59TyrfsTer53	p.D59Yfs*53	ENST00000370321	NM_000969.3	58	AGa/a	0			1			-	R/X	uc001doz.2	protein_coding	YES	CCDS741.1			172-173/894										0	c.(172-174)AGAfs			Gene3D:3.30.420.100,HAMAP:MF_01337_A,Pfam_domain:PF00861,Prints_domain:PR00058,hmmpanther:PTHR23410,Superfamily_domains:SSF53137	ribosomal protein L5				ENSP00000359345		8-Mar									COSM2150762	8-Mar	.		ENST00000370321	Transcript	1		endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	ENSG00000122406	g.chr1:93299200_93299201delAG	10360	3		HIGH								--	--	1																																		FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_RNA|RPL5_uc001dpb.2_Frame_Shift_Del_p.R8fs|RPL5_uc001dpd.2_5'Flank	1	1			p.R58fs	NM_000969	NP_000960			1	RL5_HUMAN	RPL5	HGNC	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	R4GNJ2_HUMAN,Q5T7N0_HUMAN,Q8WYP1_HUMAN,B3KTM6_HUMAN,A2RUM7_HUMAN		3	250_251	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	UPI00000702C9	58					deletion	RPL5,frameshift_variant,p.Asp59TyrfsTer53,ENST00000370321,NM_000969.3;RPL5,frameshift_variant,p.Asp9TyrfsTer53,ENST00000315741,;SNORD21,upstream_gene_variant,,ENST00000383953,NR_000006.8;SNORA66,upstream_gene_variant,,ENST00000515986,;RPL5,frameshift_variant,p.Asp59TyrfsTer17,ENST00000470843,;RPL5,non_coding_transcript_exon_variant,,ENST00000461952,;RPL5,upstream_gene_variant,,ENST00000497519,;	uc001doz.2	c.172_173delAG	262-263/1043	5	5			c.172_173delAG						1	DEL	c.(172-174)AGAfs	47	47				0	Broad	ribosomal protein L5			93299201		0.371	ENSG00000122406	13378	g.chr1:93299200_93299201delAG	endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome																				0.29	1	1	0	1	0	0	0	0	0	--	--		0	-			FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_RNA|RPL5_uc001dpb.2_Frame_Shift_Del_p.R8fs|RPL5_uc001dpd.2_5'Flank	48	GBM-06-0211-TP	p.R58fs	AG	TGTGACAAACAGAGATATCATT	NM_000969	NP_000960	93299200	P46777	RL5_HUMAN	0		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	3	250_251	+	-	-		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	Frame_Shift_Del	58						
RPL5	6125	broad.mit.edu	GRCh37	1	93301897	93301898	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0216-01	TCGA-06-0216-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370321.3:c.480dup	p.Gly161TrpfsTer24	p.G161Wfs*24	ENST00000370321	NM_000969.3	159	gtt/gTtt	0			1			T	V/VX	uc001doz.2	protein_coding	YES	CCDS741.1			475-476/894										0	c.(475-477)GTTfs			Gene3D:3.30.420.100,HAMAP:MF_01337_A,Pfam_domain:PF00861,Prints_domain:PR00058,hmmpanther:PTHR23410,Superfamily_domains:SSF53137	ribosomal protein L5				ENSP00000359345		8-May										8-May	.		ENST00000370321	Transcript	1		endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	ENSG00000122406	g.chr1:93301897_93301898insT	10360	5		HIGH								--	--	1																																		FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_RNA|RPL5_uc001dpb.2_Frame_Shift_Ins_p.V109fs|RPL5_uc001dpd.2_5'UTR|SNORD21_uc001dpe.2_5'Flank		1			p.V159fs	NM_000969	NP_000960				RL5_HUMAN	RPL5	HGNC	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	R4GNJ2_HUMAN,Q5T7N0_HUMAN,Q8WYP1_HUMAN,B3KTM6_HUMAN,A2RUM7_HUMAN		5	553_554	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	UPI00000702C9	159					insertion	RPL5,frameshift_variant,p.Gly161TrpfsTer24,ENST00000370321,NM_000969.3;RPL5,frameshift_variant,p.Gly111TrpfsTer?,ENST00000315741,;SNORA66,upstream_gene_variant,,ENST00000384792,NR_002444.2;SNORD21,upstream_gene_variant,,ENST00000383953,NR_000006.8;SNORA66,upstream_gene_variant,,ENST00000515986,;RPL5,3_prime_UTR_variant,,ENST00000470843,;RPL5,upstream_gene_variant,,ENST00000497519,;RPL5,downstream_gene_variant,,ENST00000461952,;	uc001doz.2	c.475_476insT	565-566/1043	5	5			c.475_476insT						1	INS	c.(475-477)GTTfs	31	31				0	Broad	ribosomal protein L5			93301898		0.495	ENSG00000122406	13378	g.chr1:93301897_93301898insT	endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome																				0.46	1	0	0	1	1	0	0	0	0	--	--		0	T			FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_RNA|RPL5_uc001dpb.2_Frame_Shift_Ins_p.V109fs|RPL5_uc001dpd.2_5'UTR|SNORD21_uc001dpe.2_5'Flank	51	GBM-06-0216-TP	p.V159fs	-	TGGCAATAAAGTTTTTGGTGCC	NM_000969	NP_000960	93301897	P46777	RL5_HUMAN	0		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	5	553_554	+	T	T		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	Frame_Shift_Ins	159						
RPL5	6125	broad.mit.edu	GRCh37	1	93298955	93298955	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-06-5413-01	TCGA-06-5413-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370321.3:c.15del	p.Val6LeufsTer13	p.V6Lfs*13	ENST00000370321	NM_000969.3	5	Aaa/aa	0			1			-	K/X	uc001doz.2	protein_coding	YES	CCDS741.1			13/894										0	c.(13-15)AAAfs			hmmpanther:PTHR23410	ribosomal protein L5				ENSP00000359345		8-Feb									COSM2153192	8-Feb	.		ENST00000370321	Transcript	1		endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	ENSG00000122406	g.chr1:93298955delA	10360	2		HIGH								--	--	1																																		FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_RNA|RPL5_uc001dpb.2_5'UTR|RPL5_uc001dpd.2_5'Flank	1	1			p.K5fs	NM_000969	NP_000960			1	RL5_HUMAN	RPL5	HGNC	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	R4GNJ2_HUMAN,Q5T7N0_HUMAN,Q8WYP1_HUMAN,B3KTM6_HUMAN,A2RUM7_HUMAN		2	91	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	UPI00000702C9	5					deletion	RPL5,frameshift_variant,p.Val6LeufsTer13,ENST00000370321,NM_000969.3;RPL5,5_prime_UTR_variant,,ENST00000315741,;SNORD21,upstream_gene_variant,,ENST00000383953,NR_000006.8;SNORA66,upstream_gene_variant,,ENST00000515986,;RPL5,frameshift_variant,p.Val6LeufsTer13,ENST00000470843,;RPL5,non_coding_transcript_exon_variant,,ENST00000461952,;RPL5,upstream_gene_variant,,ENST00000497519,;	uc001doz.2	c.13delA	103/1043	5	5			c.13delA						1	DEL	c.(13-15)AAAfs	13	13				0	Broad	ribosomal protein L5			93298955		0.299	ENSG00000122406	13378	g.chr1:93298955delA	endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome																				0.35	1	1	0	1	0	0	0	0	0	--	--		0	-			FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_RNA|RPL5_uc001dpb.2_5'UTR|RPL5_uc001dpd.2_5'Flank	96	GBM-06-5413-TP	p.K5fs	A	GGGGTTTGTTAAAGTTGTTAA	NM_000969	NP_000960	93298955	P46777	RL5_HUMAN	0		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	2	91	+	-	-		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	Frame_Shift_Del	5						
RPL5	0	broad.mit.edu	GRCh37	1	93300358	93300358	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01	TCGA-14-0790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370321.3:c.212G>A	p.Gly71Glu	p.G71E	ENST00000370321	NM_000969.3	71	gGg/gAg	0			1			A	G/E	uc001doz.2	protein_coding	YES	CCDS741.1			212/894										0	c.(211-213)GGG>GAG			Gene3D:3.30.420.100,HAMAP:MF_01337_A,Pfam_domain:PF00861,hmmpanther:PTHR23410,Superfamily_domains:SSF53137	ribosomal protein L5				ENSP00000359345		8-Apr									COSM3401092	8-Apr	.		ENST00000370321	Transcript	1		endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	ENSG00000122406	g.chr1:93300358G>A	10360			MODERATE		4.295	high	getma.org/?cm=msa&ty=f&p=RL5_HUMAN&rb=26&re=173&var=G71E	getma.org/pdb.php?prot=RL5_HUMAN&from=26&to=173&var=G71E	getma.org/?cm=var&var=hg19,1,93300358,G,A&fts=all	G71E	--	--	1																																		FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_RNA|RPL5_uc001dpb.2_Missense_Mutation_p.G21E|RPL5_uc001dpd.2_5'Flank|SNORD21_uc001dpe.2_5'Flank	1	1		probably_damaging(0.976)	p.G71E	NM_000969	NP_000960		deleterious(0.01)	1	RL5_HUMAN	RPL5	HGNC	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	R4GNJ2_HUMAN,Q5T7N0_HUMAN,Q8WYP1_HUMAN,B3KTM6_HUMAN,A2RUM7_HUMAN		4	290	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	UPI00000702C9	71					SNV	RPL5,missense_variant,p.Gly71Glu,ENST00000370321,NM_000969.3;RPL5,missense_variant,p.Gly21Glu,ENST00000315741,;SNORD21,upstream_gene_variant,,ENST00000383953,NR_000006.8;SNORA66,upstream_gene_variant,,ENST00000515986,;RPL5,3_prime_UTR_variant,,ENST00000470843,;RPL5,non_coding_transcript_exon_variant,,ENST00000461952,;RPL5,upstream_gene_variant,,ENST00000497519,;	uc001doz.2	c.212G>A	302/1043	2	2			c.212G>A						1	SNP	c.(211-213)GGG>GAG	33	33				0	Broad	ribosomal protein L5			93300358		0.413	ENSG00000122406	13378	g.chr1:93300358G>A	endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome							39.603804	KEEP	14	13	-1	81	94	14	13	-1	62.828578	81	94	0.134078	1	0	0	0	0	1	0	0	0	--	--		0	A			FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_RNA|RPL5_uc001dpb.2_Missense_Mutation_p.G21E|RPL5_uc001dpd.2_5'Flank|SNORD21_uc001dpe.2_5'Flank	137	GBM-14-0790-TP	p.G71E	G	CGTATAGAGGGGGATATGATA	NM_000969	NP_000960	93300358	P46777	RL5_HUMAN	0		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	4	290	+	A	A		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	Missense_Mutation	71						
RPL5	0	broad.mit.edu	GRCh37	1	93303161	93303161	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-5947-01	TCGA-19-5947-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370321.3:c.676T>C	p.Tyr226His	p.Y226H	ENST00000370321	NM_000969.3	226	Tac/Cac	0			1			C	Y/H	uc001doz.2	protein_coding	YES	CCDS741.1			676/894										0	c.(676-678)TAC>CAC			Gene3D:3.30.420.100,HAMAP:MF_01337_A,Pfam_domain:PF14204,Prints_domain:PR00058,hmmpanther:PTHR23410,Superfamily_domains:SSF53137	ribosomal protein L5				ENSP00000359345		8-Jun									COSM2156530	8-Jun	.		ENST00000370321	Transcript	1		endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	ENSG00000122406	g.chr1:93303161T>C	10360			MODERATE		3.575	high	getma.org/?cm=msa&ty=f&p=RL5_HUMAN&rb=192&re=283&var=Y226H	getma.org/pdb.php?prot=RL5_HUMAN&from=192&to=283&var=Y226H	getma.org/?cm=var&var=hg19,1,93303161,T,C&fts=all	Y226H	--	--	1																																		FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_RNA|RPL5_uc001dpb.2_Missense_Mutation_p.Y176H|RPL5_uc001dpd.2_Missense_Mutation_p.Y27H	1	1		probably_damaging(0.994)	p.Y226H	NM_000969	NP_000960		deleterious(0.02)	1	RL5_HUMAN	RPL5	HGNC	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	R4GNJ2_HUMAN,Q5T7N0_HUMAN,Q8WYP1_HUMAN,B3KTM6_HUMAN,A2RUM7_HUMAN		6	754	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	UPI00000702C9	226					SNV	RPL5,missense_variant,p.Tyr226His,ENST00000370321,NM_000969.3;FAM69A,downstream_gene_variant,,ENST00000370310,NM_001006605.4,NM_001252271.1,NM_001252269.1;RPL5,downstream_gene_variant,,ENST00000315741,;SNORA66,upstream_gene_variant,,ENST00000384792,NR_002444.2;SNORD21,downstream_gene_variant,,ENST00000383953,NR_000006.8;SNORA66,upstream_gene_variant,,ENST00000515986,;RPL5,non_coding_transcript_exon_variant,,ENST00000497519,;RPL5,downstream_gene_variant,,ENST00000461952,;RPL5,downstream_gene_variant,,ENST00000470843,;	uc001doz.2	c.676T>C	766/1043	3	3			c.676T>C						1	SNP	c.(676-678)TAC>CAC	61	61				0	Broad	ribosomal protein L5			93303161		0.368	ENSG00000122406	13378	g.chr1:93303161T>C	endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome							29.229843	KEEP	3	8	-1	23	17	3	8	-1	32.420727	23	17	0.222222	1	0	0	0	0	1	0	0	0	--	--		0	C			FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_RNA|RPL5_uc001dpb.2_Missense_Mutation_p.Y176H|RPL5_uc001dpd.2_Missense_Mutation_p.Y27H	169	GBM-19-5947-TP	p.Y226H	T	GTTCTCTCAATACATAAAGAA	NM_000969	NP_000960	93303161	P46777	RL5_HUMAN	0		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	6	754	+	C	C		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	Missense_Mutation	226						
RPL5	0	broad.mit.edu	GRCh37	1	93298990	93298990	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	rs148673599	byFrequency	TCGA-26-6174-01	TCGA-26-6174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370321.3:c.48C>A	p.Tyr16Ter	p.Y16*	ENST00000370321	NM_000969.3	16	taC/taA	0			1			A	Y/*	uc001doz.2	protein_coding	YES	CCDS741.1			48/894										0	c.(46-48)TAC>TAA			Gene3D:3.30.420.100,HAMAP:MF_01337_A,hmmpanther:PTHR23410,Superfamily_domains:SSF53137	ribosomal protein L5				ENSP00000359345		8-Feb									rs148673599,COSM3401090	8-Feb	.		ENST00000370321	Transcript	1		endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	ENSG00000122406	g.chr1:93298990C>A	10360			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,93298990,C,A&fts=all	Y16*	--	--	1																																		FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_RNA|RPL5_uc001dpb.2_5'UTR|RPL5_uc001dpd.2_5'Flank	0,1	1			p.Y16*	NM_000969	NP_000960			0,1	RL5_HUMAN	RPL5	HGNC	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	R4GNJ2_HUMAN,Q5T7N0_HUMAN,Q8WYP1_HUMAN,B3KTM6_HUMAN,A2RUM7_HUMAN		2	126	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	UPI00000702C9	16					SNV	RPL5,stop_gained,p.Tyr16Ter,ENST00000370321,NM_000969.3;RPL5,5_prime_UTR_variant,,ENST00000315741,;SNORD21,upstream_gene_variant,,ENST00000383953,NR_000006.8;SNORA66,upstream_gene_variant,,ENST00000515986,;RPL5,stop_gained,p.Tyr16Ter,ENST00000470843,;RPL5,non_coding_transcript_exon_variant,,ENST00000461952,;RPL5,upstream_gene_variant,,ENST00000497519,;	uc001doz.2	c.48C>A	138/1043	5	2			c.48C>A						1	SNP	c.(46-48)TAC>TAA	17	17				0	Broad	ribosomal protein L5			93298990		0.318	ENSG00000122406	13378	g.chr1:93298990C>A	endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome							44.77624	KEEP	10	7	0.411764706	23	27	10	7	0.411764706	46.931303	23	27	0.290909	1	0	0	0	0	0	1	0	0	--	--		0	A			FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_RNA|RPL5_uc001dpb.2_5'UTR|RPL5_uc001dpd.2_5'Flank	188	GBM-26-6174-TP	p.Y16*	C	TTAAGAGATACCAAGTGAAAT	NM_000969	NP_000960	93298990	P46777	RL5_HUMAN	0		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	2	126	+	A	A		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	Nonsense_Mutation	16						
RPL7	6129	broad.mit.edu	GRCh37	8	74205020	74205022	+	inframe_deletion	In_Frame_Del	DEL	CTT	CTT	-	rs151181576		TCGA-06-0743-01	TCGA-06-0743-01	CTT	CTT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000352983.2:c.25_27del	p.Lys9del	p.K9del	ENST00000352983		9	AAG/-	0	-:0.0002	-:0	1	-:0		-	K/-	uc003xzg.2	protein_coding	YES	CCDS6212.1			25-27/747										0	c.(25-27)AAGdel			hmmpanther:PTHR11524,Low_complexity_(Seg):seg	ribosomal protein L7		-:0	-:0.0024	ENSP00000339795	-:0.002	7-Feb									rs556746526,COSM3718924	7-Feb	.		ENST00000352983	Transcript		-:0.0008	endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome	ENSG00000147604	g.chr8:74205020_74205022delCTT	10363			MODERATE								--	--	1																																		RPL7_uc003xzh.1_5'UTR|RDH10_uc003xzi.2_5'Flank	0,1	1			p.K9del	NM_000971	NP_000962	-:0.002		0,1	RL7_HUMAN	RPL7	HGNC	P18124	RL7_HUMAN	Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)		C9JZ88_HUMAN,C9JIJ5_HUMAN,A8MUD9_HUMAN		2	47_49	-	Breast(64;0.0954)		UPI0000000C98	9			1.|4 X 12 AA tandem repeats.		deletion	RPL7,inframe_deletion,p.Lys9del,ENST00000352983,;RPL7,5_prime_UTR_variant,,ENST00000396467,NM_000971.3;RPL7,5_prime_UTR_variant,,ENST00000396465,;RPL7,5_prime_UTR_variant,,ENST00000396466,;RPL7,5_prime_UTR_variant,,ENST00000431653,;RPL7,5_prime_UTR_variant,,ENST00000435330,;RDH10,upstream_gene_variant,,ENST00000240285,NM_172037.4;RDH10,upstream_gene_variant,,ENST00000519380,;RDH10,upstream_gene_variant,,ENST00000521928,;RP11-434I12.2,downstream_gene_variant,,ENST00000520894,;RPL7,upstream_gene_variant,,ENST00000487500,;RPL7,upstream_gene_variant,,ENST00000466821,;RDH10,upstream_gene_variant,,ENST00000518870,;	uc003xzg.2	c.25_27delAAG	311-313/1101	5	5			c.25_27delAAG						8	DEL	c.(25-27)AAGdel	57	57				0	Broad	ribosomal protein L7			74205022		0.414	ENSG00000147604	13380	g.chr8:74205020_74205022delCTT	endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome																				0.16	1	1	0	1	0	0	0	0	0	--	--		0	-			RPL7_uc003xzh.1_5'UTR|RDH10_uc003xzi.2_5'Flank	65	GBM-06-0743-TP	p.K9del	CTT	CAGGAACCTCCTTCTTCTTCTCT	NM_000971	NP_000962	74205020	P18124	RL7_HUMAN	0	Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)		2	47_49	-	-	-	Breast(64;0.0954)		In_Frame_Del	9			1.|4 X 12 AA tandem repeats.			
RPLP0	6175	broad.mit.edu	GRCh37	12	120636422	120636422	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0129-01	TCGA-06-0129-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000551150.1:c.586G>A	p.Gly196Ser	p.G196S	ENST00000551150		196	Ggc/Agc	0			1			T	G/S	uc001txp.2	protein_coding		CCDS9193.1			586/954									ovary(1)	1	c.(586-588)GGC>AGC			hmmpanther:PTHR21141:SF3,hmmpanther:PTHR21141	ribosomal protein P0				ENSP00000339027		8-Jun									COSM3398433	8-Jun	.		ENST00000228306	Transcript			endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome	ENSG00000089157	g.chr12:120636422C>T	10371			MODERATE		2.48	medium	getma.org/?cm=msa&ty=f&p=RLA0L_HUMAN&rb=107&re=230&var=G196S	getma.org/pdb.php?prot=RLA0L_HUMAN&from=107&to=230&var=G196S	getma.org/?cm=var&var=hg19,12,120636422,C,T&fts=all	G196S	--	--	1																																		RPLP0_uc001txq.2_Missense_Mutation_p.G196S|RPLP0_uc001txr.2_Intron|uc001txs.1_5'Flank	1			benign(0.343)	p.G196S	NM_053275	NP_444505		tolerated(0.08)	1	RLA0_HUMAN	RPLP0	HGNC	P05388	RLA0_HUMAN			F8VU65_HUMAN		6	823	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		UPI0000134221	196					SNV	RPLP0,missense_variant,p.Gly196Ser,ENST00000551150,;RPLP0,missense_variant,p.Gly196Ser,ENST00000228306,NM_053275.3;RPLP0,missense_variant,p.Gly196Ser,ENST00000392514,NM_001002.3;RPLP0,missense_variant,p.Gly196Ser,ENST00000550856,;RPLP0,missense_variant,p.Gly160Ser,ENST00000546989,;RPLP0,missense_variant,p.Gly176Ser,ENST00000547211,;RPLP0,missense_variant,p.Gly147Ser,ENST00000546990,;RPLP0,intron_variant,,ENST00000313104,;GCN1L1,upstream_gene_variant,,ENST00000300648,NM_006836.1;RPLP0,upstream_gene_variant,,ENST00000552292,;RPLP0,downstream_gene_variant,,ENST00000547191,;RPLP0,downstream_gene_variant,,ENST00000550423,;RPLP0,downstream_gene_variant,,ENST00000551914,;PXN-AS1,upstream_gene_variant,,ENST00000535200,;PXN-AS1,upstream_gene_variant,,ENST00000542265,;PXN-AS1,upstream_gene_variant,,ENST00000539446,;PXN-AS1,upstream_gene_variant,,ENST00000542314,;PXN-AS1,upstream_gene_variant,,ENST00000538804,;RPLP0,downstream_gene_variant,,ENST00000550296,;RPLP0,downstream_gene_variant,,ENST00000551336,;RPLP0,3_prime_UTR_variant,,ENST00000549098,;RPLP0,3_prime_UTR_variant,,ENST00000551258,;RPLP0,3_prime_UTR_variant,,ENST00000547173,;RPLP0,3_prime_UTR_variant,,ENST00000547475,;RPLP0,non_coding_transcript_exon_variant,,ENST00000552461,;RPLP0,non_coding_transcript_exon_variant,,ENST00000548568,;RPLP0,non_coding_transcript_exon_variant,,ENST00000546564,;RPLP0,downstream_gene_variant,,ENST00000552902,;RPLP0,upstream_gene_variant,,ENST00000551217,;RPLP0,downstream_gene_variant,,ENST00000551783,;RPLP0,downstream_gene_variant,,ENST00000548495,;RPLP0,downstream_gene_variant,,ENST00000548551,;RPLP0,downstream_gene_variant,,ENST00000549242,;	uc001txp.2	c.586G>A	823/1257	2	2			c.586G>A						12	SNP	c.(586-588)GGC>AGC	17	17			ovary(1)	1	Broad	ribosomal protein P0			120636422		0.532	ENSG00000089157	13385	g.chr12:120636422C>T	endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome							-14.758913	KEEP	0	3	-1	57	48	0	3	-1	6.337283	57	48	0.033708	1	0	0	0	0	1	0	0	0	--	--		0	T			RPLP0_uc001txq.2_Missense_Mutation_p.G196S|RPLP0_uc001txr.2_Intron|uc001txs.1_5'Flank	15	GBM-06-0129-TP	p.G196S	C	TAGATGCTGCCATTGTCGAAC	NM_053275	NP_444505	120636422	P05388	RLA0_HUMAN	0			6	823	-	T	T	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		Missense_Mutation	196						
RPP25	54913		GRCh37	15	75248658	75248658	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000322177.5:c.267G>T	p.Ala89=	p.A89=	ENST00000322177	NM_017793.2	89	gcG/gcT	0																																																																																																																																																																																																																																												
RPRD1B	0	broad.mit.edu	GRCh37	20	36668949	36668949	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-32-1986-01	TCGA-32-1986-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373433.4:c.264T>C	p.Ala88=	p.A88=	ENST00000373433	NM_021215.3	88	gcT/gcC	0			1			C	A	uc002xho.3	protein_coding	YES	CCDS13301.1			264/981									pancreas(1)	1	c.(262-264)GCT>GCC			Gene3D:1.25.40.90,Pfam_domain:PF04818,PROSITE_profiles:PS51391,hmmpanther:PTHR12460,SMART_domains:SM00582,Superfamily_domains:SSF48464	Regulation of nuclear pre-mRNA domain containing				ENSP00000362532		7-Feb	8.24E-06					1.50E-05			rs772210790,COSM3405056	7-Feb	.		ENST00000373433	Transcript						ENSG00000101413	g.chr20:36668949T>C	16209			LOW								--	--	1																																			0,1	1			p.A88A	NM_021215	NP_067038			0,1	RPR1B_HUMAN	RPRD1B	HGNC	Q9NQG5	RPR1B_HUMAN					2	666	+			UPI00001285EB	88			CID.		SNV	RPRD1B,synonymous_variant,p.=,ENST00000373433,NM_021215.3;RPRD1B,synonymous_variant,p.=,ENST00000495457,;RPRD1B,intron_variant,,ENST00000462548,;	uc002xho.3	c.264T>C	666/3874	4	4			c.264T>C						20	SNP	c.(262-264)GCT>GCC	33	33			pancreas(1)	1	Broad	Regulation of nuclear pre-mRNA domain containing			36668949		0.353	ENSG00000101413	13397	g.chr20:36668949T>C										-74.786702	KEEP	3	5	-1	181	177	3	5	-1	8.585007	181	177	0.015924	1	0	0	0	0	0	0	1	0	--	--		0	C				233	GBM-32-1986-TP	p.A88A	T	TTGTGGATGCTTTTTCTCATG	NM_021215	NP_067038	36668949	Q9NQG5	RPR1B_HUMAN	0			2	666	+	C	C			Silent	88			CID.			
RPRD1B	0	broad.mit.edu	GRCh37	20	36687859	36687859	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-76-4928-01	TCGA-76-4928-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373433.4:c.592C>T	p.Arg198Ter	p.R198*	ENST00000373433	NM_021215.3	198	Cga/Tga	0			1			T	R/*	uc002xho.3	protein_coding	YES	CCDS13301.1			592/981									pancreas(1)	1	c.(592-594)CGA>TGA			hmmpanther:PTHR12460	Regulation of nuclear pre-mRNA domain containing				ENSP00000362532		7-May									COSM3405057	7-May	.		ENST00000373433	Transcript						ENSG00000101413	g.chr20:36687859C>T	16209			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,20,36687859,C,T&fts=all	R198*	--	--	1																																			1	1			p.R198*	NM_021215	NP_067038			1	RPR1B_HUMAN	RPRD1B	HGNC	Q9NQG5	RPR1B_HUMAN					5	994	+			UPI00001285EB	198					SNV	RPRD1B,stop_gained,p.Arg198Ter,ENST00000373433,NM_021215.3;RPRD1B,stop_gained,p.Arg80Ter,ENST00000449186,;RPRD1B,3_prime_UTR_variant,,ENST00000462548,;RPRD1B,downstream_gene_variant,,ENST00000495457,;	uc002xho.3	c.592C>T	994/3874	5	2			c.592C>T						20	SNP	c.(592-594)CGA>TGA	35	35			pancreas(1)	1	Broad	Regulation of nuclear pre-mRNA domain containing			36687859		0.433	ENSG00000101413	13397	g.chr20:36687859C>T										7.610269	KEEP	6	10	-1	65	90	6	10	-1	33.379964	65	90	0.095541	1	0	0	0	0	0	1	0	0	--	--		0	T				268	GBM-76-4928-TP	p.R198*	C	TGCTACTGTCCGACAGAAAAT	NM_021215	NP_067038	36687859	Q9NQG5	RPR1B_HUMAN	0			5	994	+	T	T			Nonsense_Mutation	198						
RPRD2	23248		GRCh37	1	150437160	150437160	+	synonymous_variant	Silent	SNP	T	T	A			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000369068.4:c.1569T>A	p.Ser523=	p.S523=	ENST00000369068	NM_015203.3	523	tcT/tcA	0																																																																																																																																																																																																																																												
RPRM	0	broad.mit.edu	GRCh37	2	154334770	154334770	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01	TCGA-27-1835-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325926.3:c.310G>A	p.Val104Met	p.V104M	ENST00000325926	NM_019845.2	104	Gtg/Atg	0			1			T	V/M	uc002tyq.1	protein_coding	YES	CCDS2198.1			310/330										0	c.(310-312)GTG>ATG				reprimo, TP53 dependant G2 arrest mediator				ENSP00000314946		1-Jan									COSM2157270	1-Jan	.		ENST00000325926	Transcript			cell cycle arrest	cytoplasm|integral to membrane	protein binding	ENSG00000177519	g.chr2:154334770C>T	24201			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=RPRM_HUMAN&rb=18&re=107&var=V104M	NA	getma.org/?cm=var&var=hg19,2,154334770,C,T&fts=all	V104M	--	--	1																																			1	1		probably_damaging(0.934)	p.V104M	NM_019845	NP_062819		deleterious_low_confidence(0.01)	1	RPRM_HUMAN	RPRM	HGNC	Q9NS64	RPRM_HUMAN					1	553	-			UPI0000072BEC	104					SNV	RPRM,missense_variant,p.Val104Met,ENST00000325926,NM_019845.2;AC012501.2,intron_variant,,ENST00000424322,;	uc002tyq.1	c.310G>A	553/1471	1	1			c.310G>A						2	SNP	c.(310-312)GTG>ATG	13	13				0	Broad	reprimo, TP53 dependant G2 arrest mediator			154334770		0.637	ENSG00000177519	13399	g.chr2:154334770C>T	cell cycle arrest	cytoplasm|integral to membrane	protein binding							19.887432	KEEP	5	3	-1	11	11	5	3	-1	21.199249	11	11	0.275862	1	0	0	0	0	1	0	0	0	--	--		0	T				194	GBM-27-1835-TP	p.V104M	C	CCCACGACCACCGCCTCCACC	NM_019845	NP_062819	154334770	Q9NS64	RPRM_HUMAN	0			1	553	-	T	T			Missense_Mutation	104						
RPS12	6206	broad.mit.edu	GRCh37	6	133137703	133137703	+	splice_donor_variant	Splice_Site	SNP	G	G	T			TCGA-06-0157-01	TCGA-06-0157-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000230050.3:c.234+1G>T		p.X78_splice	ENST00000230050	NM_001016.3	78		0			1			T		uc003qdx.2	protein_coding	YES	CCDS5164.1			234/399										0	c.e4+1				ribosomal protein S12				ENSP00000230050											COSM2150087		.		ENST00000230050	Transcript			endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	structural constituent of ribosome	ENSG00000112306	g.chr6:133137703G>T	10385			HIGH	5-Apr							--	--	1																																		RPS12_uc003qdy.1_3'UTR	1	1			p.K78_splice	NM_001016	NP_001007			1	RS12_HUMAN	RPS12	HGNC	P25398	RS12_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)			4	316	+	Breast(56;0.214)		UPI000000096F						SNV	RPS12,splice_donor_variant,,ENST00000230050,NM_001016.3;SNORA33,upstream_gene_variant,,ENST00000363664,NR_002436.1;SNORD100,upstream_gene_variant,,ENST00000408573,NR_002435.1;SNORD101,downstream_gene_variant,,ENST00000384027,NR_002434.1;RPS12,splice_donor_variant,,ENST00000484616,;	uc003qdx.2	c.234_splice	-/631	5	1			c.234_splice						6	SNP	c.e4+1	6	6				0	Broad	ribosomal protein S12			133137703		0.438	ENSG00000112306	13403	g.chr6:133137703G>T	endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	structural constituent of ribosome							130.366663	KEEP	21	22	0.488372093	27	34	21	22	0.488372093	130.560115	27	34	0.450549	1	0	0	0	0	0	0	0	1	--	--		0	T			RPS12_uc003qdy.1_3'UTR	28	GBM-06-0157-TP	p.K78_splice	G	CCTAATTAAGGTAAGGCTGCT	NM_001016	NP_001007	133137703	P25398	RS12_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)	4	316	+	T	T	Breast(56;0.214)		Splice_Site							
RPS21	6227		GRCh37	20	60963374	60963374	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000343986.4:c.196G>C	p.Asp66His	p.D66H	ENST00000343986	NM_001024.3	66	Gat/Cat	0																																																																																																																																																																																																																																												
RPS26	0	broad.mit.edu	GRCh37	12	56436346	56436346	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356464.5:c.141C>T	p.Ala47=	p.A47=	ENST00000356464		47	gcC/gcT	0			1			T	A	uc001sjf.2	protein_coding	YES	CCDS31832.1			141/348									breast(1)	1	c.(139-141)GCC>GCT			hmmpanther:PTHR12538,Pfam_domain:PF01283	ribosomal protein S26				ENSP00000348849		4-Feb									COSM3398885	4-Feb	.		ENST00000356464	Transcript	1		endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|protein binding|structural constituent of ribosome	ENSG00000197728	g.chr12:56436346C>T	10414			LOW								--	--	1																																			1	1			p.A47A	NM_001029	NP_001020			1	RS26_HUMAN	RPS26	HGNC	P62854	RS26_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		Q76N57_HUMAN,Q76N56_HUMAN		2	406	+			UPI0000001687	47					SNV	RPS26,synonymous_variant,p.=,ENST00000356464,;RPS26,synonymous_variant,p.=,ENST00000552361,NM_001029.3;IKZF4,downstream_gene_variant,,ENST00000262032,;RP11-603J24.4,upstream_gene_variant,,ENST00000551846,;RPS26,non_coding_transcript_exon_variant,,ENST00000548590,;IKZF4,downstream_gene_variant,,ENST00000551124,;	uc001sjf.2	c.141C>T	455/840	1	1			c.141C>T						12	SNP	c.(139-141)GCC>GCT	6	6			breast(1)	1	Broad	ribosomal protein S26			56436346		0.557	ENSG00000197728	13418	g.chr12:56436346C>T	endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|protein binding|structural constituent of ribosome							62.521156	KEEP	14	24	-1	73	84	14	24	-1	73.238293	73	84	0.207407	1	0	0	0	0	0	0	1	0	--	--		0	T				249	GBM-32-5222-TP	p.A47A	C	TAGTGGAGGCCGCAGCAGTCA	NM_001029	NP_001020	56436346	P62854	RS26_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(18;0.123)		2	406	+	T	T			Silent	47						
RPS4X	0	broad.mit.edu	GRCh37	X	71492579	71492579	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01	TCGA-27-1835-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316084.6:c.734G>A	p.Arg245His	p.R245H	ENST00000316084	NM_001007.4	245	cGc/cAc	0			1			T	R/H	uc004ear.2	protein_coding	YES	CCDS14418.1			734/792										0	c.(733-735)CGC>CAC			hmmpanther:PTHR11581	ribosomal protein S4, X-linked X isoform				ENSP00000362744		7-Jul									COSM2157255	7-Jul	.		ENST00000316084	Transcript			endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome	ENSG00000198034	g.chrX:71492579C>T	10424			MODERATE		1.415	low	getma.org/?cm=msa&ty=f&p=RS4X_HUMAN&rb=212&re=263&var=R245H	getma.org/pdb.php?prot=RS4X_HUMAN&from=212&to=263&var=R245H	getma.org/?cm=var&var=hg19,X,71492579,C,T&fts=all	R245H	--	--	1																																			1	1		benign(0.004)	p.R245H	NM_001007	NP_000998		tolerated(0.32)	1	RS4X_HUMAN	RPS4X	HGNC	P62701	RS4X_HUMAN			Q96IR1_HUMAN,B2R491_HUMAN		7	830	-	Renal(35;0.156)		UPI0000000066	245					SNV	RPS4X,missense_variant,p.Arg245His,ENST00000316084,NM_001007.4;RPS4X,downstream_gene_variant,,ENST00000373626,;RPS4X,non_coding_transcript_exon_variant,,ENST00000486733,;RPS4X,non_coding_transcript_exon_variant,,ENST00000470671,;RPS4X,upstream_gene_variant,,ENST00000492695,;PIN4,intron_variant,,ENST00000439980,;	uc004ear.2	c.734G>A	839/1526	1	1			c.734G>A						23	SNP	c.(733-735)CGC>CAC	16	16				0	Broad	ribosomal protein S4, X-linked X isoform			71492579		0.488	ENSG00000198034	13426	g.chrX:71492579C>T	endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome							63.099506	KEEP	18	10	-1	32	30	18	10	-1	65.185301	32	30	0.319444	1	0	0	0	0	1	0	0	0	--	--		0	T				194	GBM-27-1835-TP	p.R245H	C	AATGGTGAGGCGGATACCCTT	NM_001007	NP_000998	71492579	P62701	RS4X_HUMAN	0			7	830	-	T	T	Renal(35;0.156)		Missense_Mutation	245						
RPS5	6193	broad.mit.edu	GRCh37	19	58904370	58904370	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0877-01	TCGA-06-0877-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000596046.1:c.136G>T	p.Ala46Ser	p.A46S	ENST00000596046		46	Gcc/Tcc	0			1			T	A/S	uc002qsn.2	protein_coding		CCDS12978.1			136/615										0	c.(136-138)GCC>TCC			hmmpanther:PTHR11205,Gene3D:1.10.455.10,TIGRFAM_domain:TIGR01028,Superfamily_domains:SSF47973	ribosomal protein S5				ENSP00000196551		6-Mar									COSM3404729	6-Mar	.		ENST00000196551	Transcript			endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome	ENSG00000083845	g.chr19:58904370G>T	10426			MODERATE		1.435	low	getma.org/?cm=msa&ty=f&p=RS5_HUMAN&rb=1&re=48&var=A46S	getma.org/pdb.php?prot=RS5_HUMAN&from=1&to=48&var=A46S	getma.org/?cm=var&var=hg19,19,58904370,G,T&fts=all	A46S	--	--	1																																		RPS5_uc002qso.2_Missense_Mutation_p.A46S	1			possibly_damaging(0.61)	p.A46S	NM_001009	NP_001000		tolerated(0.2)	1	RS5_HUMAN	RPS5	HGNC	P46782	RS5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)	M0R0F0_HUMAN		3	208	+		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)	UPI0000135052	46					SNV	RPS5,missense_variant,p.Ala46Ser,ENST00000596046,;RPS5,missense_variant,p.Ala46Ser,ENST00000601521,;RPS5,missense_variant,p.Ala67Ser,ENST00000598495,;RPS5,missense_variant,p.Ala46Ser,ENST00000196551,NM_001009.3;RPS5,missense_variant,p.Ala46Ser,ENST00000596314,;RPS5,intron_variant,,ENST00000598098,;AC012313.1,upstream_gene_variant,,ENST00000601382,NM_001195135.1;RPS5,non_coding_transcript_exon_variant,,ENST00000598807,;RPS5,upstream_gene_variant,,ENST00000599232,;RPS5,downstream_gene_variant,,ENST00000599909,;	uc002qsn.2	c.136G>T	208/740	2	2			c.136G>T						19	SNP	c.(136-138)GCC>TCC	44	44				0	Broad	ribosomal protein S5			58904370		0.557	ENSG00000083845	13429	g.chr19:58904370G>T	endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome							36.55752	KEEP	8	8	0.5	33	31	8	8	0.5	42.449601	33	31	0.210526	1	0	0	0	0	1	0	0	0	--	--		0	T			RPS5_uc002qso.2_Missense_Mutation_p.A46S	73	GBM-06-0877-TP	p.A46S	G	GGAGAAGTATGCCAAGTACCT	NM_001009	NP_001000	58904370	P46782	RS5_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)	3	208	+	T	T		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)	Missense_Mutation	46						
RPS6KA1	6195	broad.mit.edu	GRCh37	1	26885365	26885365	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000531382.1:c.1179C>T	p.Thr393=	p.T393=	ENST00000531382	NM_001006665.1	393	acC/acT	0			1			T	T	uc001bmr.1	protein_coding		CCDS284.1			1152/2208									lung(1)	1	c.(1150-1152)ACC>ACT			PIRSF_domain:PIRSF000606,hmmpanther:PTHR24351:SF43,hmmpanther:PTHR24351,PROSITE_profiles:PS51285	ribosomal protein S6 kinase, 90kDa, polypeptide				ENSP00000363283		14/22	4.12E-05		0.000433						rs745989127,COSM2149632,COSM2149631	14/22	common_variant		ENST00000374168	Transcript			axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	ENSG00000117676	g.chr1:26885365C>T	10430			LOW								--	--	1																																		RPS6KA1_uc010ofe.1_Silent_p.T292T|RPS6KA1_uc010off.1_Silent_p.T368T|RPS6KA1_uc001bms.1_Silent_p.T393T|RPS6KA1_uc009vsl.1_Silent_p.T227T	0,1,1				p.T384T	NM_002953	NP_002944			0,1,1	KS6A1_HUMAN	RPS6KA1	HGNC	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	E9PMM7_HUMAN		14	1315	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	UPI000012DB2C	384			AGC-kinase C-terminal.		SNV	RPS6KA1,synonymous_variant,p.=,ENST00000374168,NM_002953.3;RPS6KA1,synonymous_variant,p.=,ENST00000374166,;RPS6KA1,synonymous_variant,p.=,ENST00000530003,;RPS6KA1,synonymous_variant,p.=,ENST00000526792,;RPS6KA1,synonymous_variant,p.=,ENST00000374162,;RPS6KA1,synonymous_variant,p.=,ENST00000531382,NM_001006665.1;RPS6KA1,synonymous_variant,p.=,ENST00000403732,;RPS6KA1,downstream_gene_variant,,ENST00000529454,;MIR1976,downstream_gene_variant,,ENST00000459548,;RPS6KA1,downstream_gene_variant,,ENST00000488985,;RPS6KA1,3_prime_UTR_variant,,ENST00000374163,;RPS6KA1,non_coding_transcript_exon_variant,,ENST00000531113,;RPS6KA1,downstream_gene_variant,,ENST00000474934,;RPS6KA1,downstream_gene_variant,,ENST00000527264,;	uc001bmr.1	c.1152C>T	1306/3186	2	2			c.1152C>T						1	SNP	c.(1150-1152)ACC>ACT	45	45			lung(1)	1	Broad	ribosomal protein S6 kinase, 90kDa, polypeptide			26885365		0.647	ENSG00000117676	13431	g.chr1:26885365C>T	axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			655			655	97.44399	KEEP	23	16	-1	16	31	23	16	-1	97.681877	16	31	0.44	1	0	0	0	0	0	0	1	0	--	--		0	T			RPS6KA1_uc010ofe.1_Silent_p.T292T|RPS6KA1_uc010off.1_Silent_p.T368T|RPS6KA1_uc001bms.1_Silent_p.T393T|RPS6KA1_uc009vsl.1_Silent_p.T227T	18	GBM-06-0137-TP	p.T384T	C	TCGTGGCCACCGGCCTGATGG	NM_002953	NP_002944	26885365	Q15418	KS6A1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	14	1315	+	T	T		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	Silent	384			AGC-kinase C-terminal.			
RPS6KA1	6195		GRCh37	1	26883501	26883501	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000531382.1:c.1021C>T	p.Arg341Cys	p.R341C	ENST00000531382	NM_001006665.1	341	Cgt/Tgt	0																																																																																																																																																																																																																																												
RPS6KA2	0	broad.mit.edu	GRCh37	6	166844032	166844032	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265678.4:c.1490G>A	p.Arg497His	p.R497H	ENST00000265678	NM_021135.4	497	cGc/cAc	0			1			T	R/H	uc003qvb.1	protein_coding		CCDS5294.1			1490/2202									ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8	c.(1489-1491)CGC>CAC			PROSITE_profiles:PS50011,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF25,Pfam_domain:PF00069,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000606,SMART_domains:SM00220,Superfamily_domains:SSF56112	ribosomal protein S6 kinase, 90kDa, polypeptide				ENSP00000265678		16/21	1.65E-05		0.000173						rs758931117,COSM3410782,COSM3410781,COSM3410783	16/21	.		ENST00000265678	Transcript			axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	ENSG00000071242	g.chr6:166844032C>T	10431			MODERATE		1.225	low	getma.org/?cm=msa&ty=f&p=KS6A2_HUMAN&rb=415&re=672&var=R497H	getma.org/pdb.php?prot=KS6A2_HUMAN&from=415&to=672&var=R497H	getma.org/?cm=var&var=hg19,6,166844032,C,T&fts=all	R497H	--	--	1																																		RPS6KA2_uc011ego.1_Missense_Mutation_p.R408H|RPS6KA2_uc010kkl.1_Missense_Mutation_p.R408H|RPS6KA2_uc003qvc.1_Missense_Mutation_p.R505H|RPS6KA2_uc003qvd.1_Missense_Mutation_p.R522H	0,1,1,1			benign(0.396)	p.R497H	NM_021135	NP_066958		tolerated(0.09)	0,1,1,1	KS6A2_HUMAN	RPS6KA2	HGNC	Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	D6RHW7_HUMAN,D6RD75_HUMAN,D6R910_HUMAN,B7Z3B5_HUMAN		16	1709	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	UPI000006DAD2	497			Protein kinase 2.		SNV	RPS6KA2,missense_variant,p.Arg522His,ENST00000510118,;RPS6KA2,missense_variant,p.Arg497His,ENST00000265678,NM_021135.4;RPS6KA2,missense_variant,p.Arg505His,ENST00000503859,NM_001006932.1;RPS6KA2,missense_variant,p.Arg408His,ENST00000481261,;RPS6KA2,missense_variant,p.Arg408His,ENST00000405189,;	uc003qvb.1	c.1490G>A	1714/5824	2	2			c.1490G>A						6	SNP	c.(1489-1491)CGC>CAC	29	29			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8	Broad	ribosomal protein S6 kinase, 90kDa, polypeptide			166844032		0.592	ENSG00000071242	13432	g.chr6:166844032C>T	axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			997			997	-23.275178	KEEP	0	3	-1	46	76	0	3	-1	6.455512	46	76	0.02521	1	0	0	0	0	1	0	0	0	--	--		0	T			RPS6KA2_uc011ego.1_Missense_Mutation_p.R408H|RPS6KA2_uc010kkl.1_Missense_Mutation_p.R408H|RPS6KA2_uc003qvc.1_Missense_Mutation_p.R505H|RPS6KA2_uc003qvd.1_Missense_Mutation_p.R522H	246	GBM-32-4211-TP	p.R497H	C	CCGGAGGATGCGGTCCAGGAG	NM_021135	NP_066958	166844032	Q15349	KS6A2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	16	1709	-	T	T		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	Missense_Mutation	497			Protein kinase 2.			
RPS6KA2	6196		GRCh37	6	166912027	166912027	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000503859.1:c.740G>A	p.Ser247Asn	p.S247N	ENST00000503859	NM_001006932.1	247	aGt/aAt	0																																																																																																																																																																																																																																												
RPS6KA3	6197	broad.mit.edu	GRCh37	X	20193367	20193367	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0157-01	TCGA-06-0157-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379565.3:c.1142T>A	p.Leu381His	p.L381H	ENST00000379565	NM_004586.2	381	cTt/cAt	0			1			T	L/H	uc004czu.2	protein_coding	YES	CCDS14197.1			1142/2223								p.L381H(1)	central_nervous_system(4)|stomach(1)|ovary(1)|lung(1)|breast(1)	8	c.(1141-1143)CTT>CAT			PROSITE_profiles:PS51285,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF58,Pfam_domain:PF00433,SMART_domains:SM00133,PIRSF_domain:PIRSF000606,Superfamily_domains:SSF56112	ribosomal protein S6 kinase, 90kDa, polypeptide				ENSP00000368884		14/22									COSM35332	14/22	.		ENST00000379565	Transcript	1		axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity	ENSG00000177189	g.chrX:20193367A>T	10432			MODERATE		2.285	medium	getma.org/?cm=msa&ty=f&p=KS6A3_HUMAN&rb=350&re=389&var=L381H	NA	getma.org/?cm=var&var=hg19,X,20193367,A,T&fts=all	L381H	--	--	1																																		RPS6KA3_uc011mjk.1_Missense_Mutation_p.L352H|RPS6KA3_uc004czv.2_Missense_Mutation_p.L369H|RPS6KA3_uc011mjl.1_Missense_Mutation_p.L353H|RPS6KA3_uc011mjm.1_Missense_Mutation_p.L353H	1	1		probably_damaging(0.994)	p.L381H	NM_004586	NP_004577		deleterious(0.01)	1	KS6A3_HUMAN	RPS6KA3	HGNC	P51812	KS6A3_HUMAN			Q7Z2J4_HUMAN,Q7Z2J3_HUMAN,B7ZB17_HUMAN,B1AXG2_HUMAN		14	1142	-			UPI000012DB2E	381			AGC-kinase C-terminal.		SNV	RPS6KA3,missense_variant,p.Leu381His,ENST00000379565,NM_004586.2;RPS6KA3,missense_variant,p.Leu353His,ENST00000544447,;RPS6KA3,missense_variant,p.Leu353His,ENST00000540702,;RPS6KA3,missense_variant,p.Leu352His,ENST00000379548,;RPS6KA3,upstream_gene_variant,,ENST00000479809,;	uc004czu.2	c.1142T>A	1350/7918	2	2			c.1142T>A						23	SNP	c.(1141-1143)CTT>CAT	32	32		p.L381H(1)	central_nervous_system(4)|stomach(1)|ovary(1)|lung(1)|breast(1)	8	Broad	ribosomal protein S6 kinase, 90kDa, polypeptide			20193367		0.393	ENSG00000177189	13433	g.chrX:20193367A>T	axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			144			144	173.965635	KEEP	32	35	-1	34	42	32	35	-1	174.168721	34	42	0.458015	1	0	0	0	0	1	0	0	0	--	--		0	T			RPS6KA3_uc011mjk.1_Missense_Mutation_p.L352H|RPS6KA3_uc004czv.2_Missense_Mutation_p.L369H|RPS6KA3_uc011mjl.1_Missense_Mutation_p.L353H|RPS6KA3_uc011mjm.1_Missense_Mutation_p.L353H	28	GBM-06-0157-TP	p.L381H	A	CCCCCGAAAAAGCTGATGTGC	NM_004586	NP_004577	20193367	P51812	KS6A3_HUMAN	0			14	1142	-	T	T			Missense_Mutation	381			AGC-kinase C-terminal.			
RPS6KA5	9252	broad.mit.edu	GRCh37	14	91372576	91372576	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5412-01	TCGA-06-5412-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261991.3:c.874C>T	p.Arg292Cys	p.R292C	ENST00000261991	NM_004755.2	292	Cgt/Tgt	0		A:0	1	A:0.0014		A	R/C	uc001xys.2	protein_coding	YES	CCDS9893.1			874/2409									ovary(1)	1	c.(874-876)CGT>TGT			Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF000606,PROSITE_profiles:PS50011,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF42,SMART_domains:SM00220,Superfamily_domains:SSF56112	ribosomal protein S6 kinase, polypeptide 5		A:0		ENSP00000261991	A:0	17-Aug	1.65E-05		8.64E-05					6.06E-05	rs534048620,COSM3401513,COSM3401512	17-Aug	.		ENST00000261991	Transcript		A:0.0002	axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	ENSG00000100784	g.chr14:91372576G>A	10434			MODERATE		2.17	medium	getma.org/?cm=msa&ty=f&p=KS6A5_HUMAN&rb=49&re=318&var=R292C	getma.org/pdb.php?prot=KS6A5_HUMAN&from=49&to=318&var=R292C	getma.org/?cm=var&var=hg19,14,91372576,G,A&fts=all	R292C	--	--	1																																		RPS6KA5_uc010twi.1_Missense_Mutation_p.R213C|RPS6KA5_uc001xyt.2_Missense_Mutation_p.R292C|RPS6KA5_uc010att.1_RNA	0,1,1	1		benign(0.095)	p.R292C	NM_004755	NP_004746	A:0	tolerated(0.08)	0,1,1	KS6A5_HUMAN	RPS6KA5	HGNC	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	Q9UG98_HUMAN,B7Z2Y5_HUMAN		8	1089	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	UPI0000031C30	292			Protein kinase 1.		SNV	RPS6KA5,missense_variant,p.Arg292Cys,ENST00000261991,NM_004755.2;RPS6KA5,missense_variant,p.Arg213Cys,ENST00000536315,;RPS6KA5,missense_variant,p.Arg292Cys,ENST00000418736,NM_182398.1;RPS6KA5,non_coding_transcript_exon_variant,,ENST00000556304,;RPS6KA5,3_prime_UTR_variant,,ENST00000556178,;RPS6KA5,3_prime_UTR_variant,,ENST00000554206,;	uc001xys.2	c.874C>T	1048/4202	2	2			c.874C>T						14	SNP	c.(874-876)CGT>TGT	22	22			ovary(1)	1	Broad	ribosomal protein S6 kinase, polypeptide 5			91372576		0.383	ENSG00000100784	13435	g.chr14:91372576G>A	axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			302			302	35.13586	KEEP	9	9	-1	41	39	9	9	-1	43.486397	41	39	0.186813	1	0	0	0	0	1	0	0	0	--	--		0	A			RPS6KA5_uc010twi.1_Missense_Mutation_p.R213C|RPS6KA5_uc001xyt.2_Missense_Mutation_p.R292C|RPS6KA5_uc010att.1_RNA	95	GBM-06-5412-TP	p.R292C	G	ATCAAAAGACGCTGAATTAGG	NM_004755	NP_004746	91372576	O75582	KS6A5_HUMAN	0		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	8	1089	-	A	A		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	Missense_Mutation	292			Protein kinase 1.			
RPS6KA6	27330	broad.mit.edu	GRCh37	X	83320106	83320106	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs149201069	byFrequency	TCGA-06-0875-01	TCGA-06-0875-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262752.2:c.1985A>G	p.His662Arg	p.H662R	ENST00000262752	NM_014496.4	662	cAt/cGt	0	C:0		1			C	H/R	uc004eej.1	protein_coding	YES	CCDS14451.1			1985/2238									lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8	c.(1984-1986)CAT>CGT			Superfamily_domains:SSF56112,SMART_domains:SM00220,PIRSF_domain:PIRSF000606,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24351:SF49,hmmpanther:PTHR24351,PROSITE_profiles:PS50011	ribosomal protein S6 kinase polypeptide 6			C:0.0012	ENSP00000262752		21/22	0.000288					0.000425		0.000318	rs149201069,COSM2151995	21/22	common_variant		ENST00000262752	Transcript			axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	ENSG00000072133	g.chrX:83320106T>C	10435			MODERATE		-1.165	neutral	getma.org/?cm=msa&ty=f&p=KS6A6_HUMAN&rb=426&re=683&var=H662R	getma.org/pdb.php?prot=KS6A6_HUMAN&from=426&to=683&var=H662R	getma.org/?cm=var&var=hg19,X,83320106,T,C&fts=all	H662R	--	--	1																																		RPS6KA6_uc011mqt.1_Missense_Mutation_p.H662R|RPS6KA6_uc011mqu.1_Missense_Mutation_p.H559R	0,1	1		benign(0.002)	p.H662R	NM_014496	NP_055311		tolerated(0.4)	0,1	KS6A6_HUMAN	RPS6KA6	HGNC	Q9UK32	KS6A6_HUMAN					21	2062	-			UPI0000035B52	662			Protein kinase 2.		SNV	RPS6KA6,missense_variant,p.His662Arg,ENST00000262752,NM_014496.4;RPS6KA6,missense_variant,p.His662Arg,ENST00000543399,;	uc004eej.1	c.1985A>G	1993/2547	4	4			c.1985A>G						23	SNP	c.(1984-1986)CAT>CGT	33	33			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8	Broad	ribosomal protein S6 kinase polypeptide 6			83320106		0.299	ENSG00000072133	13436	g.chrX:83320106T>C	axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			287			287	110.894038	KEEP	22	20	-1	59	40	22	20	-1	115.753372	59	40	0.302158	1	0	0	0	0	1	0	0	0	--	--		0	C			RPS6KA6_uc011mqt.1_Missense_Mutation_p.H662R|RPS6KA6_uc011mqu.1_Missense_Mutation_p.H559R	71	GBM-06-0875-TP	p.H662R	T	ATGAAGCATATGGGAAAGCAA	NM_014496	NP_055311	83320106	Q9UK32	KS6A6_HUMAN	0			21	2062	-	C	C			Missense_Mutation	662			Protein kinase 2.			
RPS6KA6	0	broad.mit.edu	GRCh37	X	83361995	83361995	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01	TCGA-19-1790-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262752.2:c.1165A>G	p.Ser389Gly	p.S389G	ENST00000262752	NM_014496.4	389	Agc/Ggc	0			1			C	S/G	uc004eej.1	protein_coding	YES	CCDS14451.1			1165/2238									lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8	c.(1165-1167)AGC>GGC			Superfamily_domains:SSF56112,SMART_domains:SM00133,PIRSF_domain:PIRSF000606,Pfam_domain:PF00433,hmmpanther:PTHR24351:SF49,hmmpanther:PTHR24351,PROSITE_profiles:PS51285	ribosomal protein S6 kinase polypeptide 6				ENSP00000262752		14/22									COSM3406629	14/22	.		ENST00000262752	Transcript			axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	ENSG00000072133	g.chrX:83361995T>C	10435			MODERATE		3.29	medium	getma.org/?cm=msa&ty=f&p=KS6A6_HUMAN&rb=352&re=394&var=S389G	NA	getma.org/?cm=var&var=hg19,X,83361995,T,C&fts=all	S389G	--	--	1																																		RPS6KA6_uc011mqt.1_Missense_Mutation_p.S389G|RPS6KA6_uc011mqu.1_Missense_Mutation_p.S286G	1	1		probably_damaging(0.98)	p.S389G	NM_014496	NP_055311		deleterious(0.02)	1	KS6A6_HUMAN	RPS6KA6	HGNC	Q9UK32	KS6A6_HUMAN					14	1242	-			UPI0000035B52	389			AGC-kinase C-terminal.		SNV	RPS6KA6,missense_variant,p.Ser389Gly,ENST00000262752,NM_014496.4;RPS6KA6,missense_variant,p.Ser389Gly,ENST00000543399,;RPS6KA6,upstream_gene_variant,,ENST00000495332,;	uc004eej.1	c.1165A>G	1173/2547	3	3			c.1165A>G						23	SNP	c.(1165-1167)AGC>GGC	59	59			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8	Broad	ribosomal protein S6 kinase polypeptide 6			83361995		0.343	ENSG00000072133	13436	g.chrX:83361995T>C	axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity		p.S389C(SNUC5-Tumor)	287		p.S389C(SNUC5-Tumor)	287	-3.89051	KEEP	2	0	-1	22	28	2	0	-1	6.381783	22	28	0.043478	1	0	0	0	0	1	0	0	0	--	--		0	C			RPS6KA6_uc011mqt.1_Missense_Mutation_p.S389G|RPS6KA6_uc011mqu.1_Missense_Mutation_p.S286G	160	GBM-19-1790-TP	p.S389G	T	GCAACAAAGCTGAATCCTTTG	NM_014496	NP_055311	83361995	Q9UK32	KS6A6_HUMAN	0			14	1242	-	C	C			Missense_Mutation	389			AGC-kinase C-terminal.			
RPS6KC1	26750	broad.mit.edu	GRCh37	1	213414537	213414537	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-5417-01	TCGA-06-5417-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366960.3:c.1718T>C	p.Phe573Ser	p.F573S	ENST00000366960	NM_012424.3	573	tTc/tCc	0			1			C	F/S	uc010ptr.1	protein_coding	YES	CCDS1513.1			1718/3201									lung(4)|ovary(3)|breast(1)	8	c.(1717-1719)TTC>TCC			hmmpanther:PTHR15508:SF2,hmmpanther:PTHR15508	ribosomal protein S6 kinase, 52kDa, polypeptide				ENSP00000355927		15-Nov									COSM2153272,COSM3400286	15-Nov	.		ENST00000366960	Transcript			cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	ENSG00000136643	g.chr1:213414537T>C	10439			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=KS6C1_HUMAN&rb=432&re=821&var=F573S	NA	getma.org/?cm=var&var=hg19,1,213414537,T,C&fts=all	F573S	--	--	1																																		RPS6KC1_uc001hkd.2_Missense_Mutation_p.F561S|RPS6KC1_uc010pts.1_Missense_Mutation_p.F361S|RPS6KC1_uc010ptt.1_Missense_Mutation_p.F361S|RPS6KC1_uc010ptu.1_Missense_Mutation_p.F392S|RPS6KC1_uc010ptv.1_Missense_Mutation_p.F108S|RPS6KC1_uc001hke.2_Missense_Mutation_p.F392S	1,1	1		benign(0.028)	p.F573S	NM_012424	NP_036556		tolerated(0.08)	1,1	KS6C1_HUMAN	RPS6KC1	HGNC	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)			11	1877	+			UPI0000071B8C	573					SNV	RPS6KC1,missense_variant,p.Phe573Ser,ENST00000366960,NM_012424.3,NM_001287221.1;RPS6KC1,missense_variant,p.Phe561Ser,ENST00000366959,NM_001136138.1,NM_001287221.1;RPS6KC1,missense_variant,p.Phe361Ser,ENST00000543470,NM_001287219.1;RPS6KC1,missense_variant,p.Phe276Ser,ENST00000543354,;RPS6KC1,non_coding_transcript_exon_variant,,ENST00000490299,;RPS6KC1,upstream_gene_variant,,ENST00000491616,;	uc010ptr.1	c.1718T>C	1868/5490	3	3			c.1718T>C						1	SNP	c.(1717-1719)TTC>TCC	8	8			lung(4)|ovary(3)|breast(1)	8	Broad	ribosomal protein S6 kinase, 52kDa, polypeptide			213414537		0.458	ENSG00000136643	13439	g.chr1:213414537T>C	cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			410			410	146.232233	KEEP	21	25	-1	32	33	21	25	-1	146.842813	32	33	0.419048	1	0	0	0	0	1	0	0	0	--	--		0	C			RPS6KC1_uc001hkd.2_Missense_Mutation_p.F561S|RPS6KC1_uc010pts.1_Missense_Mutation_p.F361S|RPS6KC1_uc010ptt.1_Missense_Mutation_p.F361S|RPS6KC1_uc010ptu.1_Missense_Mutation_p.F392S|RPS6KC1_uc010ptv.1_Missense_Mutation_p.F108S|RPS6KC1_uc001hke.2_Missense_Mutation_p.F392S	99	GBM-06-5417-TP	p.F573S	T	CTGAAGTTCTTCCCCAACGAT	NM_012424	NP_036556	213414537	Q96S38	KS6C1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	11	1877	+	C	C			Missense_Mutation	573						
RPS6KL1	0	broad.mit.edu	GRCh37	14	75388196	75388196	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-19-5950-01	TCGA-19-5950-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354625.2:c.49G>T	p.Glu17Ter	p.E17*	ENST00000354625		17	Gag/Tag	0			1			A	E/*	uc010tux.1	protein_coding					49/1626									ovary(1)|stomach(1)|central_nervous_system(1)	3	c.(49-51)GAG>TAG			hmmpanther:PTHR15508	ribosomal protein S6 kinase-like 1				ENSP00000346644		11-Feb									COSM3401473	11-Feb	.		ENST00000354625	Transcript				ribosome	ATP binding|protein serine/threonine kinase activity	ENSG00000198208	g.chr14:75388196C>A	20222			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,14,75388196,C,A&fts=all	E17*	--	--	1																																		RPS6KL1_uc001xqw.2_Nonsense_Mutation_p.E17*|RPS6KL1_uc010asd.1_RNA|RPS6KL1_uc001xqy.1_Nonsense_Mutation_p.E17*	1				p.E17*	NM_031464	NP_113652			1	RPKL1_HUMAN	RPS6KL1	HGNC	Q9Y6S9	RPKL1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00658)			2	577	-			UPI000006EBAA	17					SNV	RPS6KL1,stop_gained,p.Glu17Ter,ENST00000555647,;RPS6KL1,stop_gained,p.Glu17Ter,ENST00000354625,;RPS6KL1,stop_gained,p.Glu17Ter,ENST00000557413,;RPS6KL1,stop_gained,p.Glu17Ter,ENST00000358328,NM_031464.4;RPS6KL1,downstream_gene_variant,,ENST00000556776,;RPS6KL1,intron_variant,,ENST00000554900,;RPS6KL1,stop_gained,p.Glu17Ter,ENST00000555009,;RPS6KL1,non_coding_transcript_exon_variant,,ENST00000555834,;RPS6KL1,non_coding_transcript_exon_variant,,ENST00000553894,;RPS6KL1,non_coding_transcript_exon_variant,,ENST00000557383,;RPS6KL1,upstream_gene_variant,,ENST00000554834,;	uc010tux.1	c.49G>T	534/3016	5	2			c.49G>T						14	SNP	c.(49-51)GAG>TAG	33	33			ovary(1)|stomach(1)|central_nervous_system(1)	3	Broad	ribosomal protein S6 kinase-like 1			75388196		0.607	ENSG00000198208	13440	g.chr14:75388196C>A		ribosome	ATP binding|protein serine/threonine kinase activity			524			524	-4.419373	KEEP	2	1	0.333333333	23	30	2	1	0.333333333	6.527961	23	30	0.056604	1	0	0	0	0	0	1	0	0	--	--		0	A			RPS6KL1_uc001xqw.2_Nonsense_Mutation_p.E17*|RPS6KL1_uc010asd.1_RNA|RPS6KL1_uc001xqy.1_Nonsense_Mutation_p.E17*	170	GBM-19-5950-TP	p.E17*	C	GAGCAAGGCTCAGGCTCCAGG	NM_031464	NP_113652	75388196	Q9Y6S9	RPKL1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(234;0.00658)	2	577	-	A	A			Nonsense_Mutation	17						
RPSAP58	388524		GRCh37	19	24010322	24010322	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000496398.1:c.359G>A	p.Arg120Gln	p.R120Q	ENST00000496398		120	cGg/cAg	0																																																																																																																																																																																																																																												
RPSAP58	388524		GRCh37	19	24010294	24010294	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000496398.1:c.331C>G	p.Gln111Glu	p.Q111E	ENST00000496398		111	Cag/Gag	0																																																																																																																																																																																																																																												
RPSAP58	388524		GRCh37	19	24010294	24010294	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000496398.1:c.331C>G	p.Gln111Glu	p.Q111E	ENST00000496398		111	Cag/Gag	0																																																																																																																																																																																																																																												
RPTN	0	broad.mit.edu	GRCh37	1	152128025	152128028	+	frameshift_variant	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-41-3392-01	TCGA-41-3392-01	TGTC	TGTC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316073.3:c.1547_1550delGACA	p.Arg516LysfsTer103	p.R516Kfs*103	ENST00000316073	NM_001122965.1	516	aGACAa/aa	0			1			-	RQ/X	uc001ezs.1	protein_coding	YES	CCDS41397.1			1547-1550/2355										0	c.(1546-1551)AGACAAfs			hmmpanther:PTHR22571:SF22,hmmpanther:PTHR22571	repetin				ENSP00000317895		3-Mar	8.30E-06			0.000116					rs757743659,COSM391279	3-Mar	.		ENST00000316073	Transcript				proteinaceous extracellular matrix	calcium ion binding	ENSG00000215853	g.chr1:152128025_152128028delTGTC	26809			HIGH								--	--	1																																			0,1	1			p.R516fs	NM_001122965	NP_001116437			0,1	RPTN_HUMAN	RPTN	HGNC	Q6XPR3	RPTN_HUMAN			Q8N1M7_HUMAN,Q2M1U7_HUMAN		3	1612_1615	-			UPI00002371E2	516_517			Gln-rich.		deletion	RPTN,frameshift_variant,p.Arg516LysfsTer103,ENST00000316073,NM_001122965.1;	uc001ezs.1	c.1547_1550delGACA	1612-1615/3569	5	5			c.1547_1550delGACA						1	DEL	c.(1546-1551)AGACAAfs	1	1				0	Broad	repetin			152128028		0.5	ENSG00000215853	13445	g.chr1:152128025_152128028delTGTC		proteinaceous extracellular matrix	calcium ion binding																				0	1	1	0	1	0	0	0	0	0	--	--		0	-				254	GBM-41-3392-TP	p.R516fs	TGTC	ACTCTGGCCTTGTCTGTCTGTCTG	NM_001122965	NP_001116437	152128025	Q6XPR3	RPTN_HUMAN	0			3	1612_1615	-	-	-			Frame_Shift_Del	516_517			Gln-rich.			
RPTN	126638		GRCh37	1	152128277	152128280	+	frameshift_variant	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000316073.3:c.1295_1298del	p.Arg432LysfsTer58	p.R432Kfs*58	ENST00000316073	NM_001122965.1	432	aGACAa/aa	0																																																																																																																																																																																																																																												
RRAD	6236	broad.mit.edu	GRCh37	16	66957764	66957764	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299759.6:c.429C>T	p.Tyr143=	p.Y143=	ENST00000299759		143	taC/taT	0			1			A	Y	uc002eqn.2	protein_coding	YES	CCDS10824.1			429/927										0	c.(427-429)TAC>TAT			Gene3D:3.40.50.300,Pfam_domain:PF00071,PIRSF_domain:PIRSF038017,Prints_domain:PR00449,PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF74,SMART_domains:SM00173,SMART_domains:SM00175,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231	Ras-related associated with diabetes				ENSP00000299759		5-Mar	3.29E-05		8.64E-05			4.50E-05			rs745613040,COSM2149638	5-Mar	.		ENST00000299759	Transcript			small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity	ENSG00000166592	g.chr16:66957764G>A	10446			LOW								--	--	1																																		RRAD_uc002eqo.2_Silent_p.Y143Y	0,1	1			p.Y143Y	NM_001128850	NP_001122322			0,1	RAD_HUMAN	RRAD	HGNC	P55042	RAD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)			3	581	-		Ovarian(137;0.192)	UPI0000072F9C	143					SNV	RRAD,synonymous_variant,p.=,ENST00000299759,;RRAD,synonymous_variant,p.=,ENST00000420652,NM_001128850.1,NM_004165.2;RRAD,synonymous_variant,p.=,ENST00000566577,;RRAD,synonymous_variant,p.=,ENST00000568915,;CDH16,upstream_gene_variant,,ENST00000299752,NM_001204744.1,NM_004062.3,NM_001204745.1;CDH16,upstream_gene_variant,,ENST00000394055,;CDH16,upstream_gene_variant,,ENST00000570262,;RRAD,non_coding_transcript_exon_variant,,ENST00000567791,;CDH16,upstream_gene_variant,,ENST00000567269,;	uc002eqn.2	c.429C>T	680/1569	2	2			c.429C>T						16	SNP	c.(427-429)TAC>TAT	30	30				0	Broad	Ras-related associated with diabetes			66957764		0.582	ENSG00000166592	13452	g.chr16:66957764G>A	small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity							257.176128	KEEP	47	57	-1	80	78	47	57	-1	259.040381	80	78	0.400922	1	0	0	0	0	0	0	1	0	--	--		0	A			RRAD_uc002eqo.2_Silent_p.Y143Y	18	GBM-06-0137-TP	p.Y143Y	G	CCCAAATGTCGTAGACCATGA	NM_001128850	NP_001122322	66957764	P55042	RAD_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)	3	581	-	A	A		Ovarian(137;0.192)	Silent	143						
RRAD	0	broad.mit.edu	GRCh37	16	66957423	66957424	+	missense_variant	Missense_Mutation	DNP	CA	CA	AC			TCGA-27-2521-01	TCGA-27-2521-01	CA	CA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299759.6:c.644_645delTGinsGT	p.Val215Gly	p.V215G	ENST00000299759		215	gTG/gGT	0			1			AC	V/G	uc002eqn.2	protein_coding	YES	CCDS10824.1			644-645/927										0	c.(643-645)GTG>GGT			Gene3D:3.40.50.300,Pfam_domain:PF00071,PIRSF_domain:PIRSF038017,PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF74,SMART_domains:SM00173,SMART_domains:SM00175,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231	Ras-related associated with diabetes				ENSP00000299759		5-Apr										5-Apr	.		ENST00000299759	Transcript			small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity	ENSG00000166592	g.chr16:66957423_66957424CA>AC	10446			MODERATE								--	--	1																																		RRAD_uc002eqo.2_Missense_Mutation_p.V215G		1		possibly_damaging(0.66)	p.V215G	NM_001128850	NP_001122322		deleterious(0)		RAD_HUMAN	RRAD	HGNC	P55042	RAD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)			4	796_797	-		Ovarian(137;0.192)	UPI0000072F9C	215					substitution	RRAD,missense_variant,p.Val215Gly,ENST00000299759,;RRAD,missense_variant,p.Val215Gly,ENST00000420652,NM_001128850.1,NM_004165.2;RRAD,intron_variant,,ENST00000566577,;RRAD,intron_variant,,ENST00000568915,;CDH16,upstream_gene_variant,,ENST00000299752,NM_001204744.1,NM_004062.3,NM_001204745.1;CDH16,upstream_gene_variant,,ENST00000394055,;CDH16,upstream_gene_variant,,ENST00000565796,;CDH16,upstream_gene_variant,,ENST00000570262,;CDH16,upstream_gene_variant,,ENST00000568632,NM_001204746.1;CDH16,upstream_gene_variant,,ENST00000565235,;RRAD,non_coding_transcript_exon_variant,,ENST00000567791,;CDH16,upstream_gene_variant,,ENST00000567269,;CDH16,upstream_gene_variant,,ENST00000568698,;	uc002eqn.2	c.644_645TG>GT	895-896/1569	1	1			c.644_645TG>GT						16	DNP	c.(643-645)GTG>GGT	62	62				0	Broad	Ras-related associated with diabetes			66957424		0.634	ENSG00000166592	13452	g.chr16:66957423_66957424CA>AC	small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity							22.015204	KEEP	0	0	-1	0	0	0	0	-1	32.504002	0	0	0.147727	1	0	0	0	0	1	0	0	0	--	--		0	AC			RRAD_uc002eqo.2_Missense_Mutation_p.V215G	200	GBM-27-2521-TP	p.V215G	CA	ACTCACCATCCACCGAGACCTC	NM_001128850	NP_001122322	66957423	P55042	RAD_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)	4	796_797	-	AC	AC		Ovarian(137;0.192)	Missense_Mutation	215						
RRAGA	0	broad.mit.edu	GRCh37	9	19050342	19050342	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01	TCGA-19-5955-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380527.1:c.685G>A	p.Glu229Lys	p.E229K	ENST00000380527	NM_006570.4	229	Gag/Aag	0			1			A	E/K	uc003znj.2	protein_coding	YES	CCDS6488.1			685/942										0	c.(685-687)GAG>AAG			hmmpanther:PTHR11259,hmmpanther:PTHR11259:SF4,Pfam_domain:PF04670	Ras-related GTP binding A				ENSP00000369899		1-Jan									COSM2156787	1-Jan	.		ENST00000380527	Transcript			apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity	ENSG00000155876	g.chr9:19050342G>A	16963			MODERATE		3.55	high	getma.org/?cm=msa&ty=f&p=RRAGA_HUMAN&rb=9&re=235&var=E229K	getma.org/pdb.php?prot=RRAGA_HUMAN&from=9&to=235&var=E229K	getma.org/?cm=var&var=hg19,9,19050342,G,A&fts=all	E229K	--	--	1																																			1	1		probably_damaging(1)	p.E229K	NM_006570	NP_006561		deleterious(0)	1	RRAGA_HUMAN	RRAGA	HGNC	Q7L523	RRAGA_HUMAN					1	971	+			UPI000006D235	229	E -> G (in Ref. 2; AAB63255).				SNV	RRAGA,missense_variant,p.Glu229Lys,ENST00000380527,NM_006570.4;HAUS6,downstream_gene_variant,,ENST00000380502,NM_017645.4,NM_001270890.1;	uc003znj.2	c.685G>A	971/1648	2	2			c.685G>A						9	SNP	c.(685-687)GAG>AAG	17	17				0	Broad	Ras-related GTP binding A			19050342		0.473	ENSG00000155876	13453	g.chr9:19050342G>A	apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity							32.816586	KEEP	4	10	-1	29	28	4	10	-1	37.288546	29	28	0.222222	1	0	0	0	0	1	0	0	0	--	--		0	A				175	GBM-19-5955-TP	p.E229K	G	CCACCGGTTTGAGAAGATCAG	NM_006570	NP_006561	19050342	Q7L523	RRAGA_HUMAN	0			1	971	+	A	A			Missense_Mutation	229	E -> G (in Ref. 2; AAB63255).					
RREB1	0	broad.mit.edu	GRCh37	6	7229251	7229251	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01	TCGA-27-2524-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000349384.6:c.919C>T	p.Arg307Trp	p.R307W	ENST00000349384	NM_001003698.3	307	Cgg/Tgg	0			1			T	R/W	uc003mxc.2	protein_coding		CCDS34336.1			919/5064									ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	c.(919-921)CGG>TGG			hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF42	ras responsive element binding protein 1 isoform				ENSP00000305560		12-Oct									COSM3411254,COSM3411253	12-Oct	.		ENST00000349384	Transcript			multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	ENSG00000124782	g.chr6:7229251C>T	10449			MODERATE		3.2	medium	getma.org/?cm=msa&ty=f&p=RREB1_HUMAN&rb=232&re=431&var=R307W	NA	getma.org/?cm=var&var=hg19,6,7229251,C,T&fts=all	R307W	--	--	1																																		RREB1_uc003mxb.2_Missense_Mutation_p.R307W|RREB1_uc010jnx.2_Missense_Mutation_p.R307W	1,1			possibly_damaging(0.689)	p.R307W	NM_001003698	NP_001003698		deleterious(0)	1,1	RREB1_HUMAN	RREB1	HGNC	Q92766	RREB1_HUMAN			C9JU34_HUMAN,C9JPJ6_HUMAN,C9JE09_HUMAN		10	1309	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	UPI000020E495	307					SNV	RREB1,missense_variant,p.Arg307Trp,ENST00000379938,NM_001003700.1,NM_001003699.3;RREB1,missense_variant,p.Arg307Trp,ENST00000349384,NM_001003698.3;RREB1,missense_variant,p.Arg307Trp,ENST00000379933,NM_001168344.1;RREB1,missense_variant,p.Arg307Trp,ENST00000334984,;RREB1,missense_variant,p.Arg307Trp,ENST00000483150,;	uc003mxc.2	c.919C>T	1233/7440	1	1			c.919C>T						6	SNP	c.(919-921)CGG>TGG	6	6			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Broad	ras responsive element binding protein 1 isoform			7229251		0.507	ENSG00000124782	13460	g.chr6:7229251C>T	multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding							51.984411	KEEP	8	11	-1	8	9	8	11	-1	52.01304	8	9	0.53125	1	0	0	0	0	1	0	0	0	--	--		0	T			RREB1_uc003mxb.2_Missense_Mutation_p.R307W|RREB1_uc010jnx.2_Missense_Mutation_p.R307W	202	GBM-27-2524-TP	p.R307W	C	AACAAACCTGCGGAGGTGCAT	NM_001003698	NP_001003698	7229251	Q92766	RREB1_HUMAN	0			10	1309	+	T	T	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	Missense_Mutation	307						
RRM2	0	broad.mit.edu	GRCh37	2	10264898	10264898	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-5219-01	TCGA-28-5219-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304567.5:c.490T>C	p.Phe164Leu	p.F164L	ENST00000304567	NM_001034.3	164	Ttc/Ctc	0			1			C	F/L	uc002rah.2	protein_coding		CCDS1669.1			490/1170										0	c.(490-492)TTC>CTC			Superfamily_domains:SSF47240,Pfam_domain:PF00268,Gene3D:1.10.620.20,hmmpanther:PTHR23409,hmmpanther:PTHR23409:SF20	ribonucleotide reductase M2 polypeptide isoform				ENSP00000302955		10-May									COSM3406720,COSM3406719	10-May	.		ENST00000304567	Transcript			deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding	ENSG00000171848	g.chr2:10264898T>C	10452			MODERATE		3.81	high	getma.org/?cm=msa&ty=f&p=RIR2_HUMAN&rb=70&re=351&var=F164L	getma.org/pdb.php?prot=RIR2_HUMAN&from=70&to=351&var=F164L	getma.org/?cm=var&var=hg19,2,10264898,T,C&fts=all	F164L	--	--	1																																			1,1			probably_damaging(0.999)	p.F164L	NM_001034	NP_001025		deleterious_low_confidence(0.01)	1,1	RIR2_HUMAN	RRM2	HGNC	P31350	RIR2_HUMAN		Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	Q9UKM0_HUMAN,Q8N6S3_HUMAN,B3KS26_HUMAN		5	681	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		UPI00000012E4	164					SNV	RRM2,missense_variant,p.Phe224Leu,ENST00000360566,NM_001165931.1;RRM2,missense_variant,p.Phe164Leu,ENST00000304567,NM_001034.3;RRM2,missense_variant,p.Phe114Leu,ENST00000474701,;RP11-254F7.4,downstream_gene_variant,,ENST00000607140,;RRM2,non_coding_transcript_exon_variant,,ENST00000491447,;RRM2,downstream_gene_variant,,ENST00000459969,;RRM2,upstream_gene_variant,,ENST00000487591,;RRM2,downstream_gene_variant,,ENST00000461327,;RRM2,upstream_gene_variant,,ENST00000485717,;RRM2,downstream_gene_variant,,ENST00000498343,;RRM2,upstream_gene_variant,,ENST00000462343,;	uc002rah.2	c.490T>C	559/3271	3	3			c.490T>C						2	SNP	c.(490-492)TTC>CTC	55	55				0	Broad	ribonucleotide reductase M2 polypeptide isoform			10264898		0.383	ENSG00000171848	13463	g.chr2:10264898T>C	deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding			178			178	-36.832658	KEEP	0	3	-1	89	89	0	3	-1	6.905897	89	89	0.017964	1	0	0	0	0	1	0	0	0	--	--		0	C				225	GBM-28-5219-TP	p.F164L	T	TTTCTATGGCTTCCAAATTGC	NM_001034	NP_001025	10264898	P31350	RIR2_HUMAN	0		Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	5	681	+	C	C	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		Missense_Mutation	164						
RRNAD1	51093	broad.mit.edu	GRCh37	1	156702252	156702252	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01	TCGA-06-0168-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368216.4:c.416G>A	p.Arg139Gln	p.R139Q	ENST00000368216	NM_015997.3	139	cGg/cAg	0	A:0		1			A	R/Q	uc001fpu.2	protein_coding	YES	CCDS1154.1			416/1428										0	c.(415-417)CGG>CAG			Superfamily_domains:SSF53335,Gene3D:3.40.50.150,Pfam_domain:PF13679,hmmpanther:PTHR12496:SF2,hmmpanther:PTHR12496	hypothetical protein LOC51093 isoform 1			A:0.0001	ENSP00000357199		8-Mar	4.12E-05	0.000103		0.000236		3.08E-05			rs369382121,COSM2150240	8-Mar	.		ENST00000368216	Transcript				integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity	ENSG00000143303	g.chr1:156702252G>A	24273			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=RRNAD_HUMAN&rb=133&re=293&var=R139Q	NA	getma.org/?cm=var&var=hg19,1,156702252,G,A&fts=all	R139Q	--	--	1																																		C1orf66_uc001fpv.2_Missense_Mutation_p.R139Q	0,1	1		benign(0.121)	p.R139Q	NM_015997	NP_057081		tolerated(0.23)	0,1	RRNAD_HUMAN	RRNAD1	HGNC	Q96FB5	RRNAD_HUMAN			E5RJL6_HUMAN		3	1050	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		UPI000013D8E3	139					SNV	RRNAD1,missense_variant,p.Arg139Gln,ENST00000368216,NM_015997.3;RRNAD1,missense_variant,p.Arg139Gln,ENST00000368218,NM_001142560.1;RRNAD1,missense_variant,p.Arg139Gln,ENST00000519086,;RRNAD1,missense_variant,p.Arg37Gln,ENST00000476229,;RRNAD1,missense_variant,p.Arg37Gln,ENST00000484742,;RRNAD1,missense_variant,p.Arg26Gln,ENST00000522237,;RRNAD1,3_prime_UTR_variant,,ENST00000524343,;ISG20L2,upstream_gene_variant,,ENST00000313146,NM_030980.1;ISG20L2,upstream_gene_variant,,ENST00000368219,;MRPL24,downstream_gene_variant,,ENST00000368211,NM_024540.3,NM_145729.2;MRPL24,downstream_gene_variant,,ENST00000361531,;RRNAD1,upstream_gene_variant,,ENST00000481920,;ISG20L2,upstream_gene_variant,,ENST00000470713,;RRNAD1,upstream_gene_variant,,ENST00000497515,;ISG20L2,upstream_gene_variant,,ENST00000469074,;MRPL24,downstream_gene_variant,,ENST00000478899,;RRNAD1,upstream_gene_variant,,ENST00000462397,;RRNAD1,non_coding_transcript_exon_variant,,ENST00000517871,;	uc001fpu.2	c.416G>A	1046/2254	1	1			c.416G>A						1	SNP	c.(415-417)CGG>CAG	62	62				0	Broad	hypothetical protein LOC51093 isoform 1			156702252		0.562	ENSG00000143303	2013	g.chr1:156702252G>A		integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity							187.897056	KEEP	34	31	-1	25	45	34	31	-1	187.92696	25	45	0.482759	1	0	0	0	0	1	0	0	0	--	--		0	A			C1orf66_uc001fpv.2_Missense_Mutation_p.R139Q	33	GBM-06-0168-TP	p.R139Q	G	CATGAGATCCGGAGGCTGGGA	NM_015997	NP_057081	156702252	Q96FB5	RRNAD_HUMAN	0			3	1050	+	A	A	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		Missense_Mutation	139						
RRP1B	23076	broad.mit.edu	GRCh37	21	45107441	45107441	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0648-01	TCGA-06-0648-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340648.4:c.1186C>T	p.Leu396Phe	p.L396F	ENST00000340648	NM_015056.2	396	Ctt/Ttt	0			1			T	L/F	uc002zdk.2	protein_coding	YES	CCDS33577.1			1186/2277									skin(1)	1	c.(1186-1188)CTT>TTT			hmmpanther:PTHR13026,hmmpanther:PTHR13026:SF2	ribosomal RNA processing 1 homolog B				ENSP00000339145		13/16									COSM2151365	13/16	.		ENST00000340648	Transcript			rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	ENSG00000160208	g.chr21:45107441C>T	23818			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=RRP1B_HUMAN&rb=221&re=420&var=L396F	NA	getma.org/?cm=var&var=hg19,21,45107441,C,T&fts=all	L396F	--	--	1																																		RRP1B_uc002zdl.2_5'UTR	1	1		benign(0.391)	p.L396F	NM_015056	NP_055871		tolerated(0.41)	1	RRP1B_HUMAN	RRP1B	HGNC	Q14684	RRP1B_HUMAN		STAD - Stomach adenocarcinoma(101;0.178)			13	1300	+			UPI0000198EE6	396					SNV	RRP1B,missense_variant,p.Leu396Phe,ENST00000340648,NM_015056.2;RRP1B,non_coding_transcript_exon_variant,,ENST00000470886,;	uc002zdk.2	c.1186C>T	1303/5088	1	1			c.1186C>T						21	SNP	c.(1186-1188)CTT>TTT	6	6			skin(1)	1	Broad	ribosomal RNA processing 1 homolog B			45107441		0.532	ENSG00000160208	13469	g.chr21:45107441C>T	rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding							219.801341	KEEP	31	38	-1	50	44	31	38	-1	220.367808	50	44	0.435065	1	0	0	0	0	1	0	0	0	--	--		0	T			RRP1B_uc002zdl.2_5'UTR	61	GBM-06-0648-TP	p.L396F	C	TGAAAGCAGTCTTCAAAAGAG	NM_015056	NP_055871	45107441	Q14684	RRP1B_HUMAN	0		STAD - Stomach adenocarcinoma(101;0.178)	13	1300	+	T	T			Missense_Mutation	396						
RRP1B	0	broad.mit.edu	GRCh37	21	45113183	45113183	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-27-1832-01	TCGA-27-1832-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340648.4:c.2196A>C	p.Ser732=	p.S732=	ENST00000340648	NM_015056.2	732	tcA/tcC	0			1			C	S	uc002zdk.2	protein_coding	YES	CCDS33577.1			2196/2277									skin(1)	1	c.(2194-2196)TCA>TCC			hmmpanther:PTHR13026,hmmpanther:PTHR13026:SF2	ribosomal RNA processing 1 homolog B				ENSP00000339145		16/16									COSM3748160	16/16	.		ENST00000340648	Transcript			rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	ENSG00000160208	g.chr21:45113183A>C	23818			LOW								--	--	1																																		RRP1B_uc002zdl.2_Silent_p.S265S	1	1			p.S732S	NM_015056	NP_055871			1	RRP1B_HUMAN	RRP1B	HGNC	Q14684	RRP1B_HUMAN		STAD - Stomach adenocarcinoma(101;0.178)			16	2310	+			UPI0000198EE6	732					SNV	RRP1B,synonymous_variant,p.=,ENST00000340648,NM_015056.2;RRP1B,non_coding_transcript_exon_variant,,ENST00000470886,;	uc002zdk.2	c.2196A>C	2313/5088	3	3			c.2196A>C						21	SNP	c.(2194-2196)TCA>TCC	12	12			skin(1)	1	Broad	ribosomal RNA processing 1 homolog B			45113183		0.612	ENSG00000160208	13469	g.chr21:45113183A>C	rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding							3.321242	KEEP	12	12	-1	12	30	12	12	-1	8.013389	12	30	0.153846	1	0	0	0	0	0	0	1	0	--	--		0	C			RRP1B_uc002zdl.2_Silent_p.S265S	191	GBM-27-1832-TP	p.S732S	A	CCACCAGCTCACCTGCCAGCT	NM_015056	NP_055871	45113183	Q14684	RRP1B_HUMAN	0		STAD - Stomach adenocarcinoma(101;0.178)	16	2310	+	C	C			Silent	732						
RRP1B	0	broad.mit.edu	GRCh37	21	45107849	45107849	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6282-01	TCGA-76-6282-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340648.4:c.1594G>A	p.Val532Ile	p.V532I	ENST00000340648	NM_015056.2	532	Gtc/Atc	0		A:0	1	A:0		A	V/I	uc002zdk.2	protein_coding	YES	CCDS33577.1			1594/2277									skin(1)	1	c.(1594-1596)GTC>ATC			hmmpanther:PTHR13026,hmmpanther:PTHR13026:SF2	ribosomal RNA processing 1 homolog B		A:0		ENSP00000339145	A:0	13/16	6.60E-05	0.000532				1.57E-05			rs567364998,COSM2820251	13/16	common_variant		ENST00000340648	Transcript		A:0.0002	rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	ENSG00000160208	g.chr21:45107849G>A	23818			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=RRP1B_HUMAN&rb=421&re=620&var=V532I	NA	getma.org/?cm=var&var=hg19,21,45107849,G,A&fts=all	V532I	--	--	1																																		RRP1B_uc002zdl.2_Missense_Mutation_p.V65I	0,1	1		benign(0.018)	p.V532I	NM_015056	NP_055871	A:0.001	tolerated(0.24)	0,1	RRP1B_HUMAN	RRP1B	HGNC	Q14684	RRP1B_HUMAN		STAD - Stomach adenocarcinoma(101;0.178)			13	1708	+			UPI0000198EE6	532					SNV	RRP1B,missense_variant,p.Val532Ile,ENST00000340648,NM_015056.2;RRP1B,non_coding_transcript_exon_variant,,ENST00000470886,;	uc002zdk.2	c.1594G>A	1711/5088	2	2			c.1594G>A						21	SNP	c.(1594-1596)GTC>ATC	20	20			skin(1)	1	Broad	ribosomal RNA processing 1 homolog B			45107849		0.647	ENSG00000160208	13469	g.chr21:45107849G>A	rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding							43.551585	KEEP	8	10	-1	22	30	8	10	-1	45.926131	22	30	0.288136	1	0	0	0	0	1	0	0	0	--	--		0	A			RRP1B_uc002zdl.2_Missense_Mutation_p.V65I	278	GBM-76-6282-TP	p.V532I	G	AGTTGTGCCCGTCAATGGCAG	NM_015056	NP_055871	45107849	Q14684	RRP1B_HUMAN	0		STAD - Stomach adenocarcinoma(101;0.178)	13	1708	+	A	A			Missense_Mutation	532						
RRP36	88745	broad.mit.edu	GRCh37	6	42993026	42993026	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-0137-01	TCGA-06-0137-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000244496.5:c.304C>A	p.Arg102=	p.R102=	ENST00000244496	NM_033112.2	102	Cga/Aga	0			1			A	R	uc003otp.1	protein_coding	YES	CCDS34453.1			304/780										0	c.(304-306)CGA>AGA			hmmpanther:PTHR21738,hmmpanther:PTHR21738:SF0,Pfam_domain:PF06102	hypothetical protein LOC88745				ENSP00000244496		7-Mar									COSM2149606	7-Mar	.		ENST00000244496	Transcript			ribosomal small subunit biogenesis|rRNA processing	nucleolus		ENSG00000124541	g.chr6:42993026C>A	21374			LOW								--	--	1																																			1	1			p.R102R	NM_033112	NP_149103			1	RRP36_HUMAN	RRP36	HGNC	Q96EU6	RRP36_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)				3	312	+			UPI000006F3AC	102					SNV	RRP36,synonymous_variant,p.=,ENST00000244496,NM_033112.2;KLHDC3,downstream_gene_variant,,ENST00000326974,NM_057161.3;KLHDC3,downstream_gene_variant,,ENST00000244670,;KLHDC3,downstream_gene_variant,,ENST00000332245,;RRP36,upstream_gene_variant,,ENST00000607394,;	uc003otp.1	c.304C>A	314/1159	2	2			c.304C>A						6	SNP	c.(304-306)CGA>AGA	18	18				0	Broad	hypothetical protein LOC88745			42993026		0.338	ENSG00000124541	2290	g.chr6:42993026C>A	ribosomal small subunit biogenesis|rRNA processing	nucleolus								147.633323	KEEP	30	19	0.387755102	39	36	30	19	0.387755102	148.342513	39	36	0.414414	1	0	0	0	0	0	0	1	0	--	--		0	A				18	GBM-06-0137-TP	p.R102R	C	AGCCAAGATCCGAGTACCATT	NM_033112	NP_149103	42993026	Q96EU6	RRP36_HUMAN	0	Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		3	312	+	A	A			Silent	102						
RRP7A	0	broad.mit.edu	GRCh37	22	42910784	42910784	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	rs146741450	by1000genomes	TCGA-14-3476-01	TCGA-14-3476-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323013.6:c.462G>A	p.Lys154=	p.K154=	ENST00000323013	NM_015703.4	154	aaG/aaA	0			1			T	K	uc003bcq.2	protein_coding	YES	CCDS14036.1			462/843									central_nervous_system(1)|skin(1)	2	c.(460-462)AAG>AAA			Pfam_domain:PF12923,hmmpanther:PTHR13191	ribosomal RNA processing 7 homolog A				ENSP00000321449		7-May	0.000495	0.00489		0.000156		1.94E-05		7.46E-05	rs756752110,COSM247138	7-May	common_variant		ENST00000323013	Transcript					nucleotide binding|RNA binding	ENSG00000189306	g.chr22:42910784C>T	24286			LOW								--	--	1																																		SERHL_uc011apm.1_Intron|RRP7A_uc003bcp.2_Silent_p.K177K	0,1	1			p.K154K	NM_015703	NP_056518			0,1	RRP7A_HUMAN	RRP7A	HGNC	Q9Y3A4	RRP7A_HUMAN					5	478	-			UPI000013C6B7	154					SNV	RRP7A,splice_region_variant,p.=,ENST00000323013,NM_015703.4;SERHL,downstream_gene_variant,,ENST00000359906,;SERHL,downstream_gene_variant,,ENST00000421475,;RRP7A,splice_region_variant,,ENST00000416699,;SERHL,downstream_gene_variant,,ENST00000455578,;RRP7A,downstream_gene_variant,,ENST00000483303,;	uc003bcq.2	c.462G>A	478/3801	2	2			c.462G>A						22	SNP	c.(460-462)AAG>AAA	24	24			central_nervous_system(1)|skin(1)	2	Broad	ribosomal RNA processing 7 homolog A			42910784		0.602	ENSG00000189306	13470	g.chr22:42910784C>T			nucleotide binding|RNA binding							-2.314456	KEEP	2	1	-1	26	22	2	1	-1	6.44785	26	22	0.066667	1	0	0	0	0	0	0	1	0	--	--		0	T			SERHL_uc011apm.1_Intron|RRP7A_uc003bcp.2_Silent_p.K177K	151	GBM-14-3476-TP	p.K154K	C	CACTGATCCACTCTGAGGAAA	NM_015703	NP_056518	42910784	Q9Y3A4	RRP7A_HUMAN	0			5	478	-	T	T			Silent	154						
RRP9	0	broad.mit.edu	GRCh37	3	51969702	51969702	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0618-01	TCGA-12-0618-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000232888.6:c.742G>A	p.Ala248Thr	p.A248T	ENST00000232888	NM_004704.4	248	Gca/Aca	0			1			T	A/T	uc003dbw.1	protein_coding	YES	CCDS2837.1			742/1428									breast(2)|ovary(1)	3	c.(742-744)GCA>ACA			PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR19865,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	RNA, U3 small nucleolar interacting protein 2				ENSP00000232888		15-Sep	8.24E-06							6.06E-05	rs769912031,COSM3408777	15-Sep	.		ENST00000232888	Transcript			rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding	ENSG00000114767	g.chr3:51969702C>T	16829			MODERATE		1.805	low	getma.org/?cm=msa&ty=f&p=U3IP2_HUMAN&rb=231&re=269&var=A248T	getma.org/pdb.php?prot=U3IP2_HUMAN&from=231&to=269&var=A248T	getma.org/?cm=var&var=hg19,3,51969702,C,T&fts=all	A248T	--	--	1																																			0,1	1		probably_damaging(0.909)	p.A248T	NM_004704	NP_004695		tolerated(0.29)	0,1	U3IP2_HUMAN	RRP9	HGNC	O43818	U3IP2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)			9	781	-			UPI000006F889	248			WD 3.		SNV	RRP9,missense_variant,p.Ala248Thr,ENST00000232888,NM_004704.4;	uc003dbw.1	c.742G>A	816/1578	2	2			c.742G>A						3	SNP	c.(742-744)GCA>ACA	25	25			breast(2)|ovary(1)	3	Broad	RNA, U3 small nucleolar interacting protein 2			51969702		0.592	ENSG00000114767	13472	g.chr3:51969702C>T	rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding							-21.508827	KEEP	1	3	-1	63	79	1	3	-1	7.857533	63	79	0.03252	1	0	0	0	0	1	0	0	0	--	--		0	T				119	GBM-12-0618-TP	p.A248T	C	CTGCGGAATGCCAGACCCTAA	NM_004704	NP_004695	51969702	O43818	U3IP2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)	9	781	-	T	T			Missense_Mutation	248			WD 3.			
RS1	0	broad.mit.edu	GRCh37	X	18690198	18690198	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379984.3:c.-10C>T		*4*	ENST00000379984	NM_000330.3			0	A:0		1			A		uc004cyo.2	protein_coding	YES	CCDS14187.1			-/675									ovary(2)	2	c.(-11--7)GACGA>GATGA				X-linked juvenile retinoschisis protein			A:0.0001	ENSP00000369320		6-Jan	2.47E-05					4.17E-05			rs370979911	6-Jan	.		ENST00000379984	Transcript	1		cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space		ENSG00000102104	g.chrX:18690198G>A	10457			MODIFIER								--	--	1																																				1				NM_000330	NP_000321				XLRS1_HUMAN	RS1	HGNC	O15537	XLRS1_HUMAN			Q0QD39_HUMAN		1	26	-	Hepatocellular(33;0.183)		UPI0000139001						SNV	RS1,5_prime_UTR_variant,,ENST00000379984,NM_000330.3;PPEF1,upstream_gene_variant,,ENST00000486029,;	uc004cyo.2	c.-9C>T	32/2810	1	1			c.-9C>T						23	SNP	c.(-11--7)GACGA>GATGA	64	64			ovary(2)	2	Broad	X-linked juvenile retinoschisis protein			18690198		0.443	ENSG00000102104	13474	g.chrX:18690198G>A	cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				5			5	-23.819698	KEEP	2	2	-1	67	71	2	2	-1	7.27372	67	71	0.031008	1	0	0	0	0	0	0	0	0	--	--		0	A				159	GBM-19-1390-TP		G	TCTTCCCCTCGTCCTCGGCCA	NM_000330	NP_000321	18690198	O15537	XLRS1_HUMAN	0			1	26	-	A	A	Hepatocellular(33;0.183)		Translation_Start_Site							
RSBN1	0	broad.mit.edu	GRCh37	1	114354435	114354435	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-74-6573-01	TCGA-74-6573-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261441.5:c.600C>G	p.Pro200=	p.P200=	ENST00000261441	NM_018364.3	200	ccC/ccG	0			1			C	P	uc001edq.2	protein_coding	YES	CCDS862.1			600/2409									ovary(1)	1	c.(598-600)CCC>CCG			hmmpanther:PTHR13354,hmmpanther:PTHR13354:SF8,Low_complexity_(Seg):seg	round spermatid basic protein 1				ENSP00000261441		7-Jan									rs767216644,COSM3399545	7-Jan	.		ENST00000261441	Transcript				nucleus		ENSG00000081019	g.chr1:114354435G>C	25642			LOW								--	--	1																																		RSBN1_uc001edr.2_RNA	0,1	1			p.P200P	NM_018364	NP_060834			0,1	RSBN1_HUMAN	RSBN1	HGNC	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)			1	636	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	UPI00002263B4	200					SNV	RSBN1,synonymous_variant,p.=,ENST00000261441,NM_018364.3;PTPN22,downstream_gene_variant,,ENST00000359785,NM_015967.5,NM_001193431.1;PTPN22,downstream_gene_variant,,ENST00000528414,NM_012411.4;PTPN22,downstream_gene_variant,,ENST00000538253,;PTPN22,downstream_gene_variant,,ENST00000460620,;RP5-1073O3.2,upstream_gene_variant,,ENST00000429398,;RP5-1073O3.2,upstream_gene_variant,,ENST00000418238,;RSBN1,synonymous_variant,p.=,ENST00000476412,;PTPN22,downstream_gene_variant,,ENST00000532224,;PTPN22,downstream_gene_variant,,ENST00000469077,;	uc001edq.2	c.600C>G	664/6621	4	4			c.600C>G						1	SNP	c.(598-600)CCC>CCG	48	48			ovary(1)	1	Broad	round spermatid basic protein 1			114354435		0.637	ENSG00000081019	13477	g.chr1:114354435G>C		nucleus								65.139842	KEEP	10	15	-1	18	16	10	15	-1	65.29711	18	16	0.44	1	0	0	0	0	0	0	1	0	--	--		0	C			RSBN1_uc001edr.2_RNA	260	GBM-74-6573-TP	p.P200P	G	GATCACCATCGGGGCCGCGGT	NM_018364	NP_060834	114354435	Q5VWQ0	RSBN1_HUMAN	0		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	636	-	C	C	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	Silent	200						
RSBN1L	222194	broad.mit.edu	GRCh37	7	77408002	77408002	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0219-01	TCGA-06-0219-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334955.8:c.2058G>A	p.Trp686Ter	p.W686*	ENST00000334955	NM_198467.2	686	tgG/tgA	0			1			A	W/*	uc010ldt.1	protein_coding	YES	CCDS43607.1			2058/2541									ovary(1)	1	c.(2056-2058)TGG>TGA			hmmpanther:PTHR13354:SF9,hmmpanther:PTHR13354	round spermatid basic protein 1-like				ENSP00000334040		8-Aug									COSM3412312	8-Aug	.		ENST00000334955	Transcript				nucleus		ENSG00000187257	g.chr7:77408002G>A	24765			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,77408002,G,A&fts=all	W686*	--	--	1																																		RSBN1L_uc003ugm.2_Nonsense_Mutation_p.W468*	1	1			p.W686*	NM_198467	NP_940869			1	RSBNL_HUMAN	RSBN1L	HGNC	Q6PCB5	RSBNL_HUMAN			C9JM20_HUMAN		8	2102	+			UPI000020F469	686					SNV	RSBN1L,stop_gained,p.Trp686Ter,ENST00000334955,NM_198467.2;RSBN1L,stop_gained,p.Trp416Ter,ENST00000445288,;RSBN1L,missense_variant,p.Ala158Thr,ENST00000441514,;RSBN1L,downstream_gene_variant,,ENST00000445512,;	uc010ldt.1	c.2058G>A	2085/6422	5	1			c.2058G>A						7	SNP	c.(2056-2058)TGG>TGA	57	57			ovary(1)	1	Broad	round spermatid basic protein 1-like			77408002		0.388	ENSG00000187257	13478	g.chr7:77408002G>A		nucleus								-60.927217	KEEP	4	1	-1	155	130	4	1	-1	6.588232	155	130	0.015748	1	0	0	0	0	0	1	0	0	--	--		0	A			RSBN1L_uc003ugm.2_Nonsense_Mutation_p.W468*	52	GBM-06-0219-TP	p.W686*	G	GTTTAGCATGGCATATTCGGC	NM_198467	NP_940869	77408002	Q6PCB5	RSBNL_HUMAN	0			8	2102	+	A	A			Nonsense_Mutation	686						
RSBN1L	222194	broad.mit.edu	GRCh37	7	77378833	77378833	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0881-01	TCGA-06-0881-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334955.8:c.796C>T	p.Arg266Trp	p.R266W	ENST00000334955	NM_198467.2	266	Cgg/Tgg	0			1			T	R/W	uc010ldt.1	protein_coding	YES	CCDS43607.1			796/2541									ovary(1)	1	c.(796-798)CGG>TGG			Low_complexity_(Seg):seg,hmmpanther:PTHR13354:SF9,hmmpanther:PTHR13354	round spermatid basic protein 1-like				ENSP00000334040		8-Mar	8.28E-06		8.68E-05						rs775321660,COSM3412310	8-Mar	.		ENST00000334955	Transcript				nucleus		ENSG00000187257	g.chr7:77378833C>T	24765			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=RSBNL_HUMAN&rb=201&re=400&var=R266W	NA	getma.org/?cm=var&var=hg19,7,77378833,C,T&fts=all	R266W	--	--	1																																		RSBN1L_uc003ugm.2_Missense_Mutation_p.R48W	0,1	1		probably_damaging(0.985)	p.R266W	NM_198467	NP_940869		deleterious(0)	0,1	RSBNL_HUMAN	RSBN1L	HGNC	Q6PCB5	RSBNL_HUMAN			C9JM20_HUMAN		3	840	+			UPI000020F469	266			Lys-rich.		SNV	RSBN1L,missense_variant,p.Arg266Trp,ENST00000334955,NM_198467.2;RSBN1L,5_prime_UTR_variant,,ENST00000445288,;	uc010ldt.1	c.796C>T	823/6422	1	1			c.796C>T						7	SNP	c.(796-798)CGG>TGG	2	2			ovary(1)	1	Broad	round spermatid basic protein 1-like			77378833		0.353	ENSG00000187257	13478	g.chr7:77378833C>T		nucleus								-12.315297	KEEP	2	3	-1	52	49	2	3	-1	9.451061	52	49	0.049505	1	0	0	0	0	1	0	0	0	--	--		0	T			RSBN1L_uc003ugm.2_Missense_Mutation_p.R48W	76	GBM-06-0881-TP	p.R266W	C	GAATGAAAAACGGAAGCGTCC	NM_198467	NP_940869	77378833	Q6PCB5	RSBNL_HUMAN	0			3	840	+	T	T			Missense_Mutation	266			Lys-rich.			
RSBN1L	0	broad.mit.edu	GRCh37	7	77402516	77402516	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334955.8:c.1678C>T	p.Arg560Cys	p.R560C	ENST00000334955	NM_198467.2	560	Cgt/Tgt	0			1			T	R/C	uc010ldt.1	protein_coding	YES	CCDS43607.1			1678/2541									ovary(1)	1	c.(1678-1680)CGT>TGT			hmmpanther:PTHR13354:SF9,hmmpanther:PTHR13354	round spermatid basic protein 1-like				ENSP00000334040		8-Jun									COSM3412311	8-Jun	.		ENST00000334955	Transcript				nucleus		ENSG00000187257	g.chr7:77402516C>T	24765			MODERATE		2.73	medium	getma.org/?cm=msa&ty=f&p=RSBNL_HUMAN&rb=401&re=600&var=R560C	NA	getma.org/?cm=var&var=hg19,7,77402516,C,T&fts=all	R560C	--	--	1																																		RSBN1L_uc003ugm.2_Missense_Mutation_p.R342C	1	1		probably_damaging(1)	p.R560C	NM_198467	NP_940869		deleterious(0)	1	RSBNL_HUMAN	RSBN1L	HGNC	Q6PCB5	RSBNL_HUMAN			C9JM20_HUMAN		6	1722	+			UPI000020F469	560					SNV	RSBN1L,missense_variant,p.Arg560Cys,ENST00000334955,NM_198467.2;RSBN1L,missense_variant,p.Arg290Cys,ENST00000445288,;RSBN1L,missense_variant,p.Arg98Cys,ENST00000445512,;RSBN1L,missense_variant,p.Arg66Cys,ENST00000441514,;RSBN1L,non_coding_transcript_exon_variant,,ENST00000462800,;RSBN1L,non_coding_transcript_exon_variant,,ENST00000468035,;	uc010ldt.1	c.1678C>T	1705/6422	2	2			c.1678C>T						7	SNP	c.(1678-1680)CGT>TGT	26	26			ovary(1)	1	Broad	round spermatid basic protein 1-like			77402516		0.383	ENSG00000187257	13478	g.chr7:77402516C>T		nucleus								80.363392	KEEP	20	17	-1	58	104	20	17	-1	97.305942	58	104	0.183333	1	0	0	0	0	1	0	0	0	--	--		0	T			RSBN1L_uc003ugm.2_Missense_Mutation_p.R342C	160	GBM-19-1790-TP	p.R560C	C	AAGTGAGCCCCGTGAGATGCT	NM_198467	NP_940869	77402516	Q6PCB5	RSBNL_HUMAN	0			6	1722	+	T	T			Missense_Mutation	560						
RSF1	51773		GRCh37	11	77413468	77413468	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000308488.6:c.806A>G	p.Asn269Ser	p.N269S	ENST00000308488		269	aAt/aGt	0																																																																																																																																																																																																																																												
RSL1D1	26156	broad.mit.edu	GRCh37	16	11931690	11931690	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0238-01	TCGA-06-0238-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000571133.1:c.1427C>A	p.Thr476Asn	p.T476N	ENST00000571133	NM_015659.2	476	aCc/aAc	0			1			T	T/N	uc002dbp.1	protein_coding	YES	CCDS10551.1			1427/1473										0	c.(1426-1428)ACC>AAC				ribosomal L1 domain containing 1				ENSP00000460871		9-Sep									COSM2151100	9-Sep	.		ENST00000571133	Transcript			regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	ENSG00000171490	g.chr16:11931690G>T	24534			MODERATE		1.385	low	getma.org/?cm=msa&ty=f&p=RL1D1_HUMAN&rb=271&re=489&var=T476N	NA	getma.org/?cm=var&var=hg19,16,11931690,G,T&fts=all	T476N	--	--	1																																		RSL1D1_uc010buv.1_Missense_Mutation_p.T475N|RSL1D1_uc010uyw.1_Missense_Mutation_p.T256N	1	1		possibly_damaging(0.717)	p.T476N	NM_015659	NP_056474		deleterious(0.02)	1	RL1D1_HUMAN	RSL1D1	HGNC	O76021	RL1D1_HUMAN			I3L234_HUMAN,B4DJ58_HUMAN		9	1500	-			UPI000007374D	476					SNV	RSL1D1,missense_variant,p.Thr476Asn,ENST00000571133,NM_015659.2;RSL1D1,missense_variant,p.Thr256Asn,ENST00000542106,;RSL1D1,downstream_gene_variant,,ENST00000355674,;RSL1D1,downstream_gene_variant,,ENST00000573251,;RSL1D1,3_prime_UTR_variant,,ENST00000396503,;RSL1D1,downstream_gene_variant,,ENST00000570767,;RSL1D1,downstream_gene_variant,,ENST00000573029,;RSL1D1,downstream_gene_variant,,ENST00000573618,;RSL1D1,downstream_gene_variant,,ENST00000574823,;	uc002dbp.1	c.1427C>A	1500/4134	2	2			c.1427C>A						16	SNP	c.(1426-1428)ACC>AAC	48	48				0	Broad	ribosomal L1 domain containing 1			11931690		0.353	ENSG00000171490	13481	g.chr16:11931690G>T	regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome							398.594803	KEEP	89	61	0.593333333	154	124	89	61	0.593333333	405.901716	154	124	0.353247	1	0	0	0	0	1	0	0	0	--	--		0	T			RSL1D1_uc010buv.1_Missense_Mutation_p.T475N|RSL1D1_uc010uyw.1_Missense_Mutation_p.T256N	55	GBM-06-0238-TP	p.T476N	G	TTTTTTGGGGGTGTGGGAAGC	NM_015659	NP_056474	11931690	O76021	RL1D1_HUMAN	0			9	1500	-	T	T			Missense_Mutation	476						
RSPH10B	222967	broad.mit.edu	GRCh37	7	5967958	5967958	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-06-0211-01	TCGA-06-0211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000405415.1:c.2301C>G	p.Val767=	p.V767=	ENST00000405415		767	gtC/gtG	0			1			C	V	uc003sph.1	protein_coding		CCDS34598.1			2301/2613									ovary(1)|pancreas(1)|skin(1)	3	c.(2299-2301)GTC>GTG				radial spoke head 10 homolog B				ENSP00000338556		19/20									COSM3412218	19/20	.		ENST00000337579	Transcript						ENSG00000155026	g.chr7:5967958G>C	27362			LOW								--	--	1																																		RSPH10B2_uc003spg.1_Intron|RSPH10B2_uc010ktd.1_Silent_p.V767V|RSPH10B2_uc011jwk.1_Missense_Mutation_p.S389C	1				p.V767V	NM_173565	NP_775836			1	R10B1_HUMAN	RSPH10B	HGNC	B2RC85	R10B2_HUMAN			C9JJN2_HUMAN		20	2572	-			UPI000020EAA5	767					SNV	RSPH10B,synonymous_variant,p.=,ENST00000405415,;RSPH10B,synonymous_variant,p.=,ENST00000404406,NM_173565.3;RSPH10B,synonymous_variant,p.=,ENST00000337579,;RSPH10B,synonymous_variant,p.=,ENST00000441023,;RSPH10B,3_prime_UTR_variant,,ENST00000539903,;CCZ1,downstream_gene_variant,,ENST00000325974,NM_015622.5;CCZ1,downstream_gene_variant,,ENST00000537980,;RSPH10B,non_coding_transcript_exon_variant,,ENST00000535104,;CCZ1,downstream_gene_variant,,ENST00000496860,;CCZ1,downstream_gene_variant,,ENST00000474507,;	uc003sph.1	c.2301C>G	2508/3042	3	3			c.2301C>G						7	SNP	c.(2299-2301)GTC>GTG	57	57			ovary(1)|pancreas(1)|skin(1)	3	Broad	radial spoke head 10 homolog B			5967958		0.438	ENSG00000155026	13485	g.chr7:5967958G>C										260.88681	KEEP	65	64	-1	461	410	65	64	-1	371.662152	461	410	0.137615	1	0	0	0	0	0	0	1	0	--	--		0	C			RSPH10B2_uc003spg.1_Intron|RSPH10B2_uc010ktd.1_Silent_p.V767V|RSPH10B2_uc011jwk.1_Missense_Mutation_p.S389C	48	GBM-06-0211-TP	p.V767V	G	TCACAAAGAAGACGTACATAT	NM_173565	NP_775836	5967958	B2RC85	R10B2_HUMAN	0			20	2572	-	C	C			Silent	767						
RSPH6A	0	broad.mit.edu	GRCh37	19	46318327	46318327	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-0619-01	TCGA-12-0619-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221538.3:c.108G>A	p.Leu36=	p.L36=	ENST00000221538	NM_030785.3	36	ctG/ctA	0			1			T	L	uc002pdm.2	protein_coding	YES	CCDS12675.1			108/2154									ovary(1)|central_nervous_system(1)	2	c.(106-108)CTG>CTA				radial spokehead-like 1				ENSP00000221538		6-Jan									COSM2153640	6-Jan	.		ENST00000221538	Transcript				intracellular		ENSG00000104941	g.chr19:46318327C>T	14241			LOW								--	--	1																																			1	1			p.L36L	NM_030785	NP_110412			1	RSH6A_HUMAN	RSPH6A	HGNC	Q9H0K4	RSH6A_HUMAN			M0R103_HUMAN		1	251	-			UPI0000037C58	36					SNV	RSPH6A,synonymous_variant,p.=,ENST00000221538,NM_030785.3;RSPH6A,synonymous_variant,p.=,ENST00000597055,;SYMPK,downstream_gene_variant,,ENST00000245934,NM_004819.2;RSPH6A,upstream_gene_variant,,ENST00000600188,;SYMPK,downstream_gene_variant,,ENST00000598155,;SYMPK,downstream_gene_variant,,ENST00000599814,;SYMPK,downstream_gene_variant,,ENST00000599460,;SYMPK,downstream_gene_variant,,ENST00000600237,;SYMPK,downstream_gene_variant,,ENST00000593504,;SYMPK,downstream_gene_variant,,ENST00000598329,;SYMPK,downstream_gene_variant,,ENST00000598364,;SYMPK,downstream_gene_variant,,ENST00000596824,;	uc002pdm.2	c.108G>A	251/2456	1	1			c.108G>A						19	SNP	c.(106-108)CTG>CTA	1	1			ovary(1)|central_nervous_system(1)	2	Broad	radial spokehead-like 1			46318327		0.687	ENSG00000104941	13488	g.chr19:46318327C>T		intracellular								134.084227	KEEP	34	21	-1	27	28	34	21	-1	134.093891	27	28	0.511628	1	0	0	0	0	0	0	1	0	--	--		0	T				120	GBM-12-0619-TP	p.L36L	C	GGTCCGCTGCCAGGGCCTGAG	NM_030785	NP_110412	46318327	Q9H0K4	RSH6A_HUMAN	0			1	251	-	T	T			Silent	36						
RSPO1	284654	broad.mit.edu	GRCh37	1	38082340	38082340	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0216-01	TCGA-06-0216-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356545.2:c.102C>T	p.Ala34=	p.A34=	ENST00000356545	NM_001038633.3	34	gcC/gcT	0			1			A	A	uc001cbl.1	protein_coding	YES	CCDS41304.1			102/792										0	c.(100-102)GCC>GCT			hmmpanther:PTHR23275,hmmpanther:PTHR23275:SF33,SMART_domains:SM00261	R-spondin1 precursor				ENSP00000348944		9-May	2.48E-05					4.61E-05			rs746161623,COSM2150879	9-May	.		ENST00000356545	Transcript	1		positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	ENSG00000169218	g.chr1:38082340G>A	21679			LOW								--	--	1																																		RSPO1_uc001cbm.1_Silent_p.A34A|RSPO1_uc009vvf.1_Silent_p.A7A|RSPO1_uc009vvg.1_Silent_p.A34A	0,1	1			p.A34A	NM_001038633	NP_001033722			0,1	RSPO1_HUMAN	RSPO1	HGNC	Q2MKA7	RSPO1_HUMAN					5	890	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	UPI0000674A16	34			FU 1.		SNV	RSPO1,synonymous_variant,p.=,ENST00000356545,NM_001038633.3;RSPO1,synonymous_variant,p.=,ENST00000401069,NM_001242908.1;RSPO1,synonymous_variant,p.=,ENST00000401070,;RSPO1,synonymous_variant,p.=,ENST00000401071,NM_001242910.1;RSPO1,synonymous_variant,p.=,ENST00000373059,NM_001242909.1;RSPO1,synonymous_variant,p.=,ENST00000401068,;	uc001cbl.1	c.102C>T	890/2985	1	1			c.102C>T						1	SNP	c.(100-102)GCC>GCT	58	58				0	Broad	R-spondin1 precursor			38082340		0.557	ENSG00000169218	13490	g.chr1:38082340G>A	positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	GBM(122;680 2230 27822 42821)			GBM(122;680 2230 27822 42821)			201.882667	KEEP	39	28	-1	51	32	39	28	-1	202.225265	51	32	0.447552	1	0	0	0	0	0	0	1	0	--	--		0	A			RSPO1_uc001cbm.1_Silent_p.A34A|RSPO1_uc009vvf.1_Silent_p.A7A|RSPO1_uc009vvg.1_Silent_p.A34A	51	GBM-06-0216-TP	p.A34A	G	GGCTCCCCTCGGCACTGACTG	NM_001038633	NP_001033722	38082340	Q2MKA7	RSPO1_HUMAN	0			5	890	-	A	A		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	Silent	34			FU 1.			
RSPO1	0	broad.mit.edu	GRCh37	1	38079485	38079485	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356545.2:c.516C>T	p.Ser172=	p.S172=	ENST00000356545	NM_001038633.3	172	tcC/tcT	0			1			A	S	uc001cbl.1	protein_coding	YES	CCDS41304.1			516/792										0	c.(514-516)TCC>TCT			Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR23275,hmmpanther:PTHR23275:SF33,SMART_domains:SM00209,Superfamily_domains:SSF82895	R-spondin1 precursor				ENSP00000348944		9-Jul									COSM3400733	9-Jul	.		ENST00000356545	Transcript	1		positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	ENSG00000169218	g.chr1:38079485G>A	21679			LOW								--	--	1																																		RSPO1_uc001cbm.1_Silent_p.S172S|RSPO1_uc009vvf.1_Silent_p.S145S|RSPO1_uc009vvg.1_Intron	1	1			p.S172S	NM_001038633	NP_001033722			1	RSPO1_HUMAN	RSPO1	HGNC	Q2MKA7	RSPO1_HUMAN					7	1304	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	UPI0000674A16	172			TSP type-1.		SNV	RSPO1,synonymous_variant,p.=,ENST00000356545,NM_001038633.3;RSPO1,synonymous_variant,p.=,ENST00000401069,NM_001242908.1;RSPO1,synonymous_variant,p.=,ENST00000373059,NM_001242909.1;RSPO1,synonymous_variant,p.=,ENST00000401068,;RSPO1,intron_variant,,ENST00000401070,;RSPO1,intron_variant,,ENST00000401071,NM_001242910.1;	uc001cbl.1	c.516C>T	1304/2985	1	1			c.516C>T						1	SNP	c.(514-516)TCC>TCT	54	54				0	Broad	R-spondin1 precursor			38079485		0.632	ENSG00000169218	13490	g.chr1:38079485G>A	positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	GBM(122;680 2230 27822 42821)			GBM(122;680 2230 27822 42821)			195.985489	KEEP	42	35	-1	87	92	42	35	-1	202.442983	87	92	0.318182	1	0	0	0	0	0	0	1	0	--	--		0	A			RSPO1_uc001cbm.1_Silent_p.S172S|RSPO1_uc009vvf.1_Silent_p.S145S|RSPO1_uc009vvg.1_Intron	220	GBM-28-5213-TP	p.S172S	G	TCCGCTCCTCGGAGCCCCTCC	NM_001038633	NP_001033722	38079485	Q2MKA7	RSPO1_HUMAN	0			7	1304	-	A	A		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	Silent	172			TSP type-1.			
RSPO3	84870	broad.mit.edu	GRCh37	6	127471594	127471594	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0221-01	TCGA-06-0221-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356698.4:c.313T>A	p.Cys105Ser	p.C105S	ENST00000356698	NM_032784.4	105	Tgt/Agt	0			1			A	C/S	uc003qar.2	protein_coding	YES	CCDS5135.1			313/819										0	c.(313-315)TGT>AGT			Low_complexity_(Seg):seg,hmmpanther:PTHR23275,hmmpanther:PTHR23275:SF35,Gene3D:2.10.220.10,SMART_domains:SM00261,Superfamily_domains:SSF57184	R-spondin 3 precursor				ENSP00000349131		5-Mar									COSM2150997,COSM2150998	5-Mar	.		ENST00000356698	Transcript				extracellular region	heparin binding	ENSG00000146374	g.chr6:127471594T>A	20866			MODERATE		3.49	medium	getma.org/?cm=msa&ty=f&p=RSPO3_HUMAN&rb=1&re=150&var=C105S	NA	getma.org/?cm=var&var=hg19,6,127471594,T,A&fts=all	C105S	--	--	1																																		RSPO3_uc003qas.1_Missense_Mutation_p.C105S	1,1	1		probably_damaging(0.998)	p.C105S	NM_032784	NP_116173		deleterious(0)	1,1	RSPO3_HUMAN	RSPO3	HGNC	Q9BXY4	RSPO3_HUMAN		GBM - Glioblastoma multiforme(226;0.0555)			3	603	+			UPI0000043CB8	105			FU 2.		SNV	RSPO3,missense_variant,p.Cys105Ser,ENST00000356698,NM_032784.4;RSPO3,missense_variant,p.Cys105Ser,ENST00000368317,;RSPO3,non_coding_transcript_exon_variant,,ENST00000485757,;	uc003qar.2	c.313T>A	902/2697	2	2			c.313T>A						6	SNP	c.(313-315)TGT>AGT	30	30				0	Broad	R-spondin 3 precursor			127471594		0.373	ENSG00000146374	13492	g.chr6:127471594T>A		extracellular region	heparin binding							200.73355	KEEP	27	41	-1	52	39	27	41	-1	201.086085	52	39	0.446043	1	0	0	0	0	1	0	0	0	--	--		0	A			RSPO3_uc003qas.1_Missense_Mutation_p.C105S	53	GBM-06-0221-TP	p.C105S	T	CTGTGATACCTGTTTCAACAA	NM_032784	NP_116173	127471594	Q9BXY4	RSPO3_HUMAN	0		GBM - Glioblastoma multiforme(226;0.0555)	3	603	+	A	A			Missense_Mutation	105			FU 2.			
RSPO3	84870	broad.mit.edu	GRCh37	6	127469869	127469869	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0237-01	TCGA-06-0237-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356698.4:c.174G>C	p.Lys58Asn	p.K58N	ENST00000356698	NM_032784.4	58	aaG/aaC	0			1			C	K/N	uc003qar.2	protein_coding	YES	CCDS5135.1			174/819										0	c.(172-174)AAG>AAC			hmmpanther:PTHR23275,hmmpanther:PTHR23275:SF35,Gene3D:2.10.220.10,SMART_domains:SM00261,Superfamily_domains:SSF57184	R-spondin 3 precursor				ENSP00000349131		5-Feb									COSM3410571,COSM3410572	5-Feb	.		ENST00000356698	Transcript				extracellular region	heparin binding	ENSG00000146374	g.chr6:127469869G>C	20866			MODERATE		1.12	low	getma.org/?cm=msa&ty=f&p=RSPO3_HUMAN&rb=1&re=150&var=K58N	NA	getma.org/?cm=var&var=hg19,6,127469869,G,C&fts=all	K58N	--	--	1																																		RSPO3_uc003qas.1_Missense_Mutation_p.K58N	1,1	1		possibly_damaging(0.542)	p.K58N	NM_032784	NP_116173		tolerated(0.08)	1,1	RSPO3_HUMAN	RSPO3	HGNC	Q9BXY4	RSPO3_HUMAN		GBM - Glioblastoma multiforme(226;0.0555)			2	464	+			UPI0000043CB8	58			FU 1.		SNV	RSPO3,missense_variant,p.Lys58Asn,ENST00000356698,NM_032784.4;RSPO3,missense_variant,p.Lys58Asn,ENST00000368317,;RSPO3,non_coding_transcript_exon_variant,,ENST00000485757,;	uc003qar.2	c.174G>C	763/2697	3	3			c.174G>C						6	SNP	c.(172-174)AAG>AAC	55	55				0	Broad	R-spondin 3 precursor			127469869		0.423	ENSG00000146374	13492	g.chr6:127469869G>C		extracellular region	heparin binding							-34.199148	KEEP	1	4	-1	105	101	1	4	-1	12.658119	105	101	0.026455	1	0	0	0	0	1	0	0	0	--	--		0	C			RSPO3_uc003qas.1_Missense_Mutation_p.K58N	54	GBM-06-0237-TP	p.K58N	G	TGTCATGTAAGCCCAGACTAT	NM_032784	NP_116173	127469869	Q9BXY4	RSPO3_HUMAN	0		GBM - Glioblastoma multiforme(226;0.0555)	2	464	+	C	C			Missense_Mutation	58			FU 1.			
RSPO3	84870		GRCh37	6	127469958	127469958	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000356698.4:c.263G>A	p.Arg88Gln	p.R88Q	ENST00000356698	NM_032784.4	88	cGa/cAa	0																																																																																																																																																																																																																																												
RSPO4	0	broad.mit.edu	GRCh37	20	948682	948682	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217260.4:c.179G>A	p.Arg60Gln	p.R60Q	ENST00000217260	NM_001029871.3	60	cGg/cAg	0			1			T	R/Q	uc002wej.2	protein_coding	YES	CCDS42846.1			179/705										0	c.(178-180)CGG>CAG			hmmpanther:PTHR23275:SF30,hmmpanther:PTHR23275,Gene3D:2.10.220.10,SMART_domains:SM00261,Superfamily_domains:SSF57184	R-spondin family, member 4 isoform 1 precursor				ENSP00000217260		5-Feb									COSM3405306	5-Feb	.		ENST00000217260	Transcript	1		Wnt receptor signaling pathway	extracellular region	heparin binding	ENSG00000101282	g.chr20:948682C>T	16175			MODERATE		2.325	medium	getma.org/?cm=msa&ty=f&p=RSPO4_HUMAN&rb=1&re=200&var=R60Q	NA	getma.org/?cm=var&var=hg19,20,948682,C,T&fts=all	R60Q	--	--	1																																		RSPO4_uc002wek.2_Missense_Mutation_p.R60Q	1	1		probably_damaging(1)	p.R60Q	NM_001029871	NP_001025042		deleterious(0)	1	RSPO4_HUMAN	RSPO4	HGNC	Q2I0M5	RSPO4_HUMAN					2	276	-			UPI00001D8320	60					SNV	RSPO4,missense_variant,p.Arg60Gln,ENST00000217260,NM_001029871.3;RSPO4,missense_variant,p.Arg60Gln,ENST00000400634,NM_001040007.2;	uc002wej.2	c.179G>A	276/2707	2	2			c.179G>A						20	SNP	c.(178-180)CGG>CAG	34	34				0	Broad	R-spondin family, member 4 isoform 1 precursor			948682		0.622	ENSG00000101282	13493	g.chr20:948682C>T	Wnt receptor signaling pathway	extracellular region	heparin binding							-30.242736	KEEP	4	3	-1	106	94	4	3	-1	8.809816	106	94	0.030864	1	0	0	0	0	1	0	0	0	--	--		0	T			RSPO4_uc002wek.2_Missense_Mutation_p.R60Q	218	GBM-28-5209-TP	p.R60Q	C	GATGCCTTCCCGGCGGATGAA	NM_001029871	NP_001025042	948682	Q2I0M5	RSPO4_HUMAN	0			2	276	-	T	T			Missense_Mutation	60						
RSPO4	0	broad.mit.edu	GRCh37	20	944738	944738	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217260.4:c.435C>T	p.Gly145=	p.G145=	ENST00000217260	NM_001029871.3	145	ggC/ggT	0		A:0.0008	1	A:0		A	G	uc002wej.2	protein_coding	YES	CCDS42846.1			435/705										0	c.(433-435)GGC>GGT			PROSITE_profiles:PS50092,hmmpanther:PTHR23275:SF30,hmmpanther:PTHR23275,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF57184	R-spondin family, member 4 isoform 1 precursor		A:0		ENSP00000217260	A:0	5-Apr	4.14E-05	0.000235				3.22E-05		6.29E-05	rs201319898,COSM1029374	5-Apr	.		ENST00000217260	Transcript	1	A:0.0002	Wnt receptor signaling pathway	extracellular region	heparin binding	ENSG00000101282	g.chr20:944738G>A	16175			LOW								--	--	1																																		RSPO4_uc002wek.2_Intron	0,1	1			p.G145G	NM_001029871	NP_001025042	A:0		0,1	RSPO4_HUMAN	RSPO4	HGNC	Q2I0M5	RSPO4_HUMAN					4	532	-			UPI00001D8320	145			TSP type-1.		SNV	RSPO4,synonymous_variant,p.=,ENST00000217260,NM_001029871.3;RSPO4,intron_variant,,ENST00000400634,NM_001040007.2;	uc002wej.2	c.435C>T	532/2707	2	2			c.435C>T						20	SNP	c.(433-435)GGC>GGT	29	29				0	Broad	R-spondin family, member 4 isoform 1 precursor			944738		0.597	ENSG00000101282	13493	g.chr20:944738G>A	Wnt receptor signaling pathway	extracellular region	heparin binding							20.156114	KEEP	5	6	-1	21	24	5	6	-1	23.52272	21	24	0.217391	1	0	0	0	0	0	0	1	0	--	--		0	A			RSPO4_uc002wek.2_Intron	230	GBM-32-1979-TP	p.G145G	G	GGCTCCAGCCGCCCCAGGGAC	NM_001029871	NP_001025042	944738	Q2I0M5	RSPO4_HUMAN	0			4	532	-	A	A			Silent	145			TSP type-1.			
RSU1	6251	broad.mit.edu	GRCh37	10	16794981	16794981	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs149666298	byFrequency	TCGA-06-0141-01	TCGA-06-0141-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377921.3:c.419A>G	p.Tyr140Cys	p.Y140C	ENST00000377921		140	tAt/tGt	0	C:0.0005		1			C	Y/C	uc001iok.2	protein_coding		CCDS7112.1			419/834									central_nervous_system(1)	1	c.(418-420)TAT>TGT			Gene3D:3.80.10.10,Pfam_domain:PF00560,PROSITE_profiles:PS51450,hmmpanther:PTHR23155,SMART_domains:SM00369,Superfamily_domains:SSF52058	ras suppressor protein 1 isoform 2			C:0.0008	ENSP00000339521		9-Jun	0.000404	0.000204	0.000347			0.000604		0.000182	rs149666298,COSM1559311	9-Jun	common_variant		ENST00000345264	Transcript			cell junction assembly|signal transduction	cytosol	protein binding	ENSG00000148484	g.chr10:16794981T>C	10464			MODERATE		1.745	low	getma.org/?cm=msa&ty=f&p=RSU1_HUMAN&rb=86&re=146&var=Y140C	getma.org/pdb.php?prot=RSU1_HUMAN&from=86&to=146&var=Y140C	getma.org/?cm=var&var=hg19,10,16794981,T,C&fts=all	Y140C	--	--	1																																		RSU1_uc001iol.2_Missense_Mutation_p.Y140C|RSU1_uc001iom.2_Missense_Mutation_p.Y87C|RSU1_uc001ion.2_Missense_Mutation_p.Y140C	0,1			probably_damaging(0.983)	p.Y140C	NM_152724	NP_689937		deleterious(0)	0,1	RSU1_HUMAN	RSU1	HGNC	Q15404	RSU1_HUMAN		GBM - Glioblastoma multiforme(1;7.54e-08)			5	721	-			UPI0000000C72	140			LRR 5.		SNV	RSU1,missense_variant,p.Tyr140Cys,ENST00000377921,;RSU1,missense_variant,p.Tyr140Cys,ENST00000345264,NM_012425.3;RSU1,missense_variant,p.Tyr87Cys,ENST00000602389,NM_152724.2;RP11-197M22.2,upstream_gene_variant,,ENST00000421480,;RSU1,non_coding_transcript_exon_variant,,ENST00000464074,;RSU1,non_coding_transcript_exon_variant,,ENST00000377911,;	uc001iok.2	c.419A>G	636/3834	3	3			c.419A>G						10	SNP	c.(418-420)TAT>TGT	56	56			central_nervous_system(1)	1	Broad	ras suppressor protein 1 isoform 2			16794981		0.398	ENSG00000148484	13497	g.chr10:16794981T>C	cell junction assembly|signal transduction	cytosol	protein binding							-7.368276	KEEP	3	3	-1	51	43	3	3	-1	11.204785	51	43	0.047059	1	0	0	0	0	1	0	0	0	--	--		0	C			RSU1_uc001iol.2_Missense_Mutation_p.Y140C|RSU1_uc001iom.2_Missense_Mutation_p.Y87C|RSU1_uc001ion.2_Missense_Mutation_p.Y140C	21	GBM-06-0141-TP	p.Y140C	T	GTCACTTAGATAGAGTGCACG	NM_152724	NP_689937	16794981	Q15404	RSU1_HUMAN	0		GBM - Glioblastoma multiforme(1;7.54e-08)	5	721	-	C	C			Missense_Mutation	140			LRR 5.			
RTEL1	51750	broad.mit.edu	GRCh37	20	62316891	62316891	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01	TCGA-06-0173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000508582.2:c.1279G>A	p.Asp427Asn	p.D427N	ENST00000508582		427	Gac/Aac	0			1			A	D/N	uc002yfu.1	protein_coding		CCDS13531.1			1207/3660										0	c.(1207-1209)GAC>AAC			hmmpanther:PTHR11472:SF4,hmmpanther:PTHR11472	regulator of telomere elongation helicase 1				ENSP00000359035		15/35									COSM2150369,COSM2150370,COSM2150371	15/35	.		ENST00000370018	Transcript	1		DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	ENSG00000258366	g.chr20:62316891G>A	15888			MODERATE		1.89	low	getma.org/?cm=msa&ty=f&p=RTEL1_HUMAN&rb=273&re=472&var=D403N	NA	getma.org/?cm=var&var=hg19,20,62316891,G,A&fts=all	D403N	--	--	1																																		RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Missense_Mutation_p.D403N|RTEL1_uc011abd.1_Missense_Mutation_p.D427N|RTEL1_uc011abe.1_Missense_Mutation_p.D180N|RTEL1_uc002yfw.2_RNA	1,1,1			benign(0.013)	p.D403N	NM_016434	NP_057518		deleterious(0.03)	1,1,1	RTEL1_HUMAN	RTEL1	HGNC	Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)				15	1550	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		UPI000006F635	403					SNV	RTEL1,missense_variant,p.Asp403Asn,ENST00000318100,;RTEL1,missense_variant,p.Asp403Asn,ENST00000370018,NM_032957.4,NM_016434.3;RTEL1,missense_variant,p.Asp403Asn,ENST00000360203,NM_001283009.1;RTEL1,missense_variant,p.Asp427Asn,ENST00000508582,;RTEL1,upstream_gene_variant,,ENST00000370003,;RTEL1,upstream_gene_variant,,ENST00000425905,;RTEL1-TNFRSF6B,missense_variant,p.Asp403Asn,ENST00000482936,;RTEL1-TNFRSF6B,missense_variant,p.Asp431Asn,ENST00000492259,;RTEL1-TNFRSF6B,upstream_gene_variant,,ENST00000480273,;RTEL1-TNFRSF6B,upstream_gene_variant,,ENST00000496281,;RTEL1,upstream_gene_variant,,ENST00000496816,;	uc002yfu.1	c.1207G>A	2034/4955	2	2			c.1207G>A						20	SNP	c.(1207-1209)GAC>AAC	28	28				0	Broad	regulator of telomere elongation helicase 1			62316891		0.627	ENSG00000258366	13501	g.chr20:62316891G>A	DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding							17.579871	KEEP	3	7	-1	14	19	3	7	-1	20.136732	14	19	0.222222	1	0	0	0	0	1	0	0	0	--	--		0	A			RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Missense_Mutation_p.D403N|RTEL1_uc011abd.1_Missense_Mutation_p.D427N|RTEL1_uc011abe.1_Missense_Mutation_p.D180N|RTEL1_uc002yfw.2_RNA	36	GBM-06-0173-TP	p.D403N	G	GTTCAGTGTGGACCCCTCCGA	NM_016434	NP_057518	62316891	Q9NZ71	RTEL1_HUMAN	0	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		15	1550	+	A	A	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Missense_Mutation	403						
RTEL1	51750	broad.mit.edu	GRCh37	20	62326129	62326129	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0241-01	TCGA-06-0241-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000508582.2:c.3217G>T	p.Val1073Leu	p.V1073L	ENST00000508582		1073	Gtg/Ttg	0			1			T	V/L	uc002yfu.1	protein_coding		CCDS13531.1			3145/3660										0	c.(3145-3147)GTG>TTG				regulator of telomere elongation helicase 1				ENSP00000359035		32/35									COSM2151178,COSM2151179,COSM2151180	32/35	.		ENST00000370018	Transcript	1		DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	ENSG00000258366	g.chr20:62326129G>T	15888			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=RTEL1_HUMAN&rb=932&re=1131&var=V1049L	NA	getma.org/?cm=var&var=hg19,20,62326129,G,T&fts=all	V1049L	--	--	1																																		RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Missense_Mutation_p.V1049L|RTEL1_uc011abd.1_Missense_Mutation_p.V1073L|RTEL1_uc011abe.1_Missense_Mutation_p.V826L|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_Missense_Mutation_p.V294L|TNFRSF6B_uc002yfy.2_5'Flank|TNFRSF6B_uc002yfz.2_5'Flank	1,1,1			benign(0.001)	p.V1049L	NM_016434	NP_057518		tolerated_low_confidence(0.17)	1,1,1	RTEL1_HUMAN	RTEL1	HGNC	Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)				32	3488	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		UPI000006F635	1049					SNV	RTEL1,missense_variant,p.Val1049Leu,ENST00000318100,;RTEL1,missense_variant,p.Val1049Leu,ENST00000370018,NM_032957.4,NM_016434.3;RTEL1,missense_variant,p.Val1049Leu,ENST00000360203,NM_001283009.1;RTEL1,missense_variant,p.Val1073Leu,ENST00000508582,;RTEL1,missense_variant,p.Val294Leu,ENST00000370003,;ARFRP1,downstream_gene_variant,,ENST00000440854,NM_001267545.1,NM_001267549.1,NM_001267544.1,NM_001134758.2,NM_001267547.1,NM_003224.4;ARFRP1,downstream_gene_variant,,ENST00000359715,;ARFRP1,downstream_gene_variant,,ENST00000609142,;ARFRP1,downstream_gene_variant,,ENST00000324228,NM_001267548.1;ARFRP1,downstream_gene_variant,,ENST00000217224,;TNFRSF6B,upstream_gene_variant,,ENST00000369996,NM_003823.3;RTEL1,downstream_gene_variant,,ENST00000425905,;ARFRP1,downstream_gene_variant,,ENST00000485858,;ARFRP1,downstream_gene_variant,,ENST00000609188,;RTEL1-TNFRSF6B,missense_variant,p.Val1049Leu,ENST00000482936,;RTEL1-TNFRSF6B,3_prime_UTR_variant,,ENST00000492259,;RTEL1,3_prime_UTR_variant,,ENST00000496816,;RTEL1-TNFRSF6B,non_coding_transcript_exon_variant,,ENST00000480273,;RTEL1-TNFRSF6B,non_coding_transcript_exon_variant,,ENST00000496281,;ARFRP1,downstream_gene_variant,,ENST00000609243,;ARFRP1,downstream_gene_variant,,ENST00000610136,;	uc002yfu.1	c.3145G>T	3972/4955	2	2			c.3145G>T						20	SNP	c.(3145-3147)GTG>TTG	26	26				0	Broad	regulator of telomere elongation helicase 1			62326129		0.687	ENSG00000258366	13501	g.chr20:62326129G>T	DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding							48.336357	KEEP	10	8	0.555555556	14	12	10	8	0.555555556	48.52448	14	12	0.428571	1	0	0	0	0	1	0	0	0	--	--		0	T			RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Missense_Mutation_p.V1049L|RTEL1_uc011abd.1_Missense_Mutation_p.V1073L|RTEL1_uc011abe.1_Missense_Mutation_p.V826L|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_Missense_Mutation_p.V294L|TNFRSF6B_uc002yfy.2_5'Flank|TNFRSF6B_uc002yfz.2_5'Flank	57	GBM-06-0241-TP	p.V1049L	G	GGGGTCTGGAGTGCCCAGAGC	NM_016434	NP_057518	62326129	Q9NZ71	RTEL1_HUMAN	0	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		32	3488	+	T	T	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Missense_Mutation	1049						
RTF1	23168		GRCh37	15	41763442	41763442	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0167-01	TCGA-06-0167-01																				ENST00000389629.4:c.1098G>A	p.Arg366=	p.R366=	ENST00000389629	NM_015138.4	366	cgG/cgA	0																																																																																																																																																																																																																																												
RTFDC1	0	broad.mit.edu	GRCh37	20	55093243	55093243	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-76-4932-01	TCGA-76-4932-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357348.5:c.933C>G	p.Leu311=	p.L311=	ENST00000357348	NM_001283035.1	311	ctC/ctG	0			1			G	L	uc002xxt.2	protein_coding		CCDS63316.1			933/1011									ovary(1)	1	c.(841-843)CTC>CTG			Pfam_domain:PF04641,hmmpanther:PTHR12775	hypothetical protein LOC51507				ENSP00000349906		10-Oct									COSM3405222,COSM3405223	10-Oct	.		ENST00000357348	Transcript						ENSG00000022277	g.chr20:55093243C>G	15890			LOW								--	--	1																																		C20orf43_uc010zzf.1_Silent_p.L311L|C20orf43_uc002xxu.2_Silent_p.L280L|C20orf43_uc002xxv.2_3'UTR|GCNT7_uc010zzg.1_Intron	1,1				p.L281L	NM_016407	NP_057491			1,1		RTFDC1	HGNC	Q9BY42	CT043_HUMAN	Colorectal(105;0.202)		A8MSH5_HUMAN,A2A2L5_HUMAN		9	950	+			UPI0001AE65A5	281					SNV	RTFDC1,synonymous_variant,p.=,ENST00000023939,NM_016407.3,NM_001283036.1;RTFDC1,synonymous_variant,p.=,ENST00000357348,NM_001283035.1;RTFDC1,3_prime_UTR_variant,,ENST00000395881,NM_001283037.1;GCNT7,intron_variant,,ENST00000243913,NM_080615.1;RTFDC1,downstream_gene_variant,,ENST00000449062,;FAM209A,non_coding_transcript_exon_variant,,ENST00000481560,;RTFDC1,non_coding_transcript_exon_variant,,ENST00000477573,;RTFDC1,non_coding_transcript_exon_variant,,ENST00000477485,;AL109806.1,upstream_gene_variant,,ENST00000320170,;	uc002xxt.2	c.843C>G	989/1476	3	3			c.843C>G						20	SNP	c.(841-843)CTC>CTG	4	4			ovary(1)	1	Broad	hypothetical protein LOC51507			55093243		0.577	ENSG00000022277	2068	g.chr20:55093243C>G										294.498191	KEEP	37	51	-1	74	78	37	51	-1	296.908021	74	78	0.388128	1	0	0	0	0	0	0	1	0	--	--		0	G			C20orf43_uc010zzf.1_Silent_p.L311L|C20orf43_uc002xxu.2_Silent_p.L280L|C20orf43_uc002xxv.2_3'UTR|GCNT7_uc010zzg.1_Intron	271	GBM-76-4932-TP	p.L281L	C	ACAAGTCCCTCTTTACCACTC	NM_016407	NP_057491	55093243	Q9BY42	CT043_HUMAN	0	Colorectal(105;0.202)		9	950	+	G	G			Silent	281						
RTKN2	219790	broad.mit.edu	GRCh37	10	63957964	63957964	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0168-01	TCGA-06-0168-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373789.3:c.1533A>G	p.Lys511=	p.K511=	ENST00000373789	NM_145307.2	511	aaA/aaG	0			1			C	K	uc001jlw.2	protein_coding	YES	CCDS7263.1			1533/1830										0	c.(1531-1533)AAA>AAG				rhotekin 2				ENSP00000362894		12-Dec									COSM2150222	12-Dec	.		ENST00000373789	Transcript			signal transduction	intracellular		ENSG00000182010	g.chr10:63957964T>C	19364			LOW								--	--	1																																		RTKN2_uc009xpf.1_Intron|RTKN2_uc001jlv.2_Silent_p.K165K	1	1			p.K511K	NM_145307	NP_660350			1	RTKN2_HUMAN	RTKN2	HGNC	Q8IZC4	RTKN2_HUMAN					12	1630	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		UPI000007413A	511					SNV	RTKN2,synonymous_variant,p.=,ENST00000373789,NM_145307.2;RTKN2,intron_variant,,ENST00000315289,;RTKN2,intron_variant,,ENST00000395265,;	uc001jlw.2	c.1533A>G	1630/6641	4	4			c.1533A>G						10	SNP	c.(1531-1533)AAA>AAG	47	47				0	Broad	rhotekin 2			63957964		0.398	ENSG00000182010	13504	g.chr10:63957964T>C	signal transduction	intracellular								438.914962	KEEP	71	56	-1	67	48	71	56	-1	439.01792	67	48	0.523148	1	0	0	0	0	0	0	1	0	--	--		0	C			RTKN2_uc009xpf.1_Intron|RTKN2_uc001jlv.2_Silent_p.K165K	33	GBM-06-0168-TP	p.K511K	T	TGAATGGAAGTTTATCAGAAG	NM_145307	NP_660350	63957964	Q8IZC4	RTKN2_HUMAN	0			12	1630	-	C	C	Prostate(12;0.0297)|all_hematologic(501;0.215)		Silent	511						
RTN1	6252	broad.mit.edu	GRCh37	14	60212584	60212584	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01	TCGA-06-5408-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267484.5:c.857C>T	p.Thr286Met	p.T286M	ENST00000267484	NM_021136.2	286	aCg/aTg	0	T:0		1			A	T/M	uc001xen.1	protein_coding	YES	CCDS9740.1			857/2331									ovary(2)|central_nervous_system(2)	4	c.(856-858)ACG>ATG			hmmpanther:PTHR10994,hmmpanther:PTHR10994:SF26	reticulon 1 isoform A			T:0.0001	ENSP00000267484		9-Feb	8.24E-06					1.50E-05			rs377312291,COSM1370313	9-Feb	.		ENST00000267484	Transcript			neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	ENSG00000139970	g.chr14:60212584G>A	10467			MODERATE		2.33	medium	getma.org/?cm=msa&ty=f&p=RTN1_HUMAN&rb=72&re=580&var=T286M	NA	getma.org/?cm=var&var=hg19,14,60212584,G,A&fts=all	T286M	--	--	1																																			0,1	1		probably_damaging(0.99)	p.T286M	NM_021136	NP_066959		deleterious(0)	0,1	RTN1_HUMAN	RTN1	HGNC	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	Q2NKQ5_HUMAN,Q2L7A7_HUMAN		2	1066	-			UPI00001352DA	286					SNV	RTN1,missense_variant,p.Thr286Met,ENST00000267484,NM_021136.2;	uc001xen.1	c.857C>T	1193/3435	2	2			c.857C>T						14	SNP	c.(856-858)ACG>ATG	17	17			ovary(2)|central_nervous_system(2)	4	Broad	reticulon 1 isoform A			60212584		0.458	ENSG00000139970	13505	g.chr14:60212584G>A	neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity							22.079785	KEEP	5	8	-1	40	32	5	8	-1	30.538317	40	32	0.157895	1	0	0	0	0	1	0	0	0	--	--		0	A				92	GBM-06-5408-TP	p.T286M	G	TTCTATTTCCGTCAGTGTGAT	NM_021136	NP_066959	60212584	Q16799	RTN1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	2	1066	-	A	A			Missense_Mutation	286						
RTN1	0	broad.mit.edu	GRCh37	14	60212931	60212931	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-5955-01	TCGA-19-5955-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267484.5:c.510G>C	p.Met170Ile	p.M170I	ENST00000267484	NM_021136.2	170	atG/atC	0			1			G	M/I	uc001xen.1	protein_coding	YES	CCDS9740.1			510/2331									ovary(2)|central_nervous_system(2)	4	c.(508-510)ATG>ATC			hmmpanther:PTHR10994,hmmpanther:PTHR10994:SF26	reticulon 1 isoform A				ENSP00000267484		9-Feb									COSM3401373	9-Feb	.		ENST00000267484	Transcript			neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	ENSG00000139970	g.chr14:60212931C>G	10467			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=RTN1_HUMAN&rb=72&re=580&var=M170I	NA	getma.org/?cm=var&var=hg19,14,60212931,C,G&fts=all	M170I	--	--	1																																			1	1		benign(0.346)	p.M170I	NM_021136	NP_066959		deleterious(0.04)	1	RTN1_HUMAN	RTN1	HGNC	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	Q2NKQ5_HUMAN,Q2L7A7_HUMAN		2	719	-			UPI00001352DA	170					SNV	RTN1,missense_variant,p.Met170Ile,ENST00000267484,NM_021136.2;	uc001xen.1	c.510G>C	846/3435	3	3			c.510G>C						14	SNP	c.(508-510)ATG>ATC	64	64			ovary(2)|central_nervous_system(2)	4	Broad	reticulon 1 isoform A			60212931		0.512	ENSG00000139970	13505	g.chr14:60212931C>G	neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity							4.869924	KEEP	5	5	-1	57	66	5	5	-1	27.606337	57	66	0.079365	1	0	0	0	0	1	0	0	0	--	--		0	G				175	GBM-19-5955-TP	p.M170I	C	CTGCAGGAGTCATCTCTATTC	NM_021136	NP_066959	60212931	Q16799	RTN1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	2	719	-	G	G			Missense_Mutation	170						
RTN2	6253	broad.mit.edu	GRCh37	19	45998164	45998164	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01	TCGA-06-1804-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245923.4:c.179G>A	p.Arg60Gln	p.R60Q	ENST00000245923	NM_005619.4	60	cGg/cAg	0			1			T	R/Q	uc002pcb.2	protein_coding	YES	CCDS12665.1			179/1638									ovary(3)	3	c.(178-180)CGG>CAG			hmmpanther:PTHR10994:SF66,hmmpanther:PTHR10994	reticulon 2 isoform A				ENSP00000245923		11-Mar									COSM2152497	11-Mar	.		ENST00000245923	Transcript	1			integral to endoplasmic reticulum membrane	signal transducer activity	ENSG00000125744	g.chr19:45998164C>T	10468			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=RTN2_HUMAN&rb=1&re=234&var=R60Q	NA	getma.org/?cm=var&var=hg19,19,45998164,C,T&fts=all	R60Q	--	--	1																																		RTN2_uc002pcc.2_Missense_Mutation_p.R60Q|RTN2_uc002pcd.2_RNA	1	1		probably_damaging(0.997)	p.R60Q	NM_005619	NP_005610		deleterious_low_confidence(0)	1	RTN2_HUMAN	RTN2	HGNC	O75298	RTN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)	K7EMR7_HUMAN		3	407	-		Ovarian(192;0.051)|all_neural(266;0.112)	UPI00001352DC	60					SNV	RTN2,missense_variant,p.Arg60Gln,ENST00000245923,NM_005619.4;RTN2,missense_variant,p.Arg60Gln,ENST00000344680,NM_206900.2;RTN2,5_prime_UTR_variant,,ENST00000590526,;PPM1N,intron_variant,,ENST00000401705,;PPM1N,upstream_gene_variant,,ENST00000324688,;PPM1N,upstream_gene_variant,,ENST00000451287,NM_001080401.1;RTN2,upstream_gene_variant,,ENST00000430715,NM_206901.2;PPM1N,upstream_gene_variant,,ENST00000396735,;PPM1N,upstream_gene_variant,,ENST00000396737,;PPM1N,upstream_gene_variant,,ENST00000456399,;RTN2,non_coding_transcript_exon_variant,,ENST00000589384,;RTN2,upstream_gene_variant,,ENST00000588036,;RTN2,upstream_gene_variant,,ENST00000590746,;RTN2,missense_variant,p.Arg60Gln,ENST00000587597,;RTN2,missense_variant,p.Arg60Gln,ENST00000591286,;PPM1N,upstream_gene_variant,,ENST00000415077,;RTN2,upstream_gene_variant,,ENST00000592064,;	uc002pcb.2	c.179G>A	415/2293	1	1			c.179G>A						19	SNP	c.(178-180)CGG>CAG	3	3			ovary(3)	3	Broad	reticulon 2 isoform A			45998164		0.662	ENSG00000125744	13506	g.chr19:45998164C>T		integral to endoplasmic reticulum membrane	signal transducer activity							76.760461	KEEP	14	13	-1	18	26	14	13	-1	77.610783	18	26	0.378788	1	0	0	0	0	1	0	0	0	--	--		0	T			RTN2_uc002pcc.2_Missense_Mutation_p.R60Q|RTN2_uc002pcd.2_RNA	79	GBM-06-1804-TP	p.R60Q	C	GGTCAGCTCCCGGGGGGTGCC	NM_005619	NP_005610	45998164	O75298	RTN2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)	3	407	-	T	T		Ovarian(192;0.051)|all_neural(266;0.112)	Missense_Mutation	60						
RTN3	0	broad.mit.edu	GRCh37	11	63487657	63487657	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2495-01	TCGA-32-2495-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377819.5:c.1683C>T	p.Asp561=	p.D561=	ENST00000377819	NM_001265589.1	561	gaC/gaT	0			1			T	D	uc001nxq.2	protein_coding	YES	CCDS58141.1			1683/3099									ovary(1)	1	c.(1681-1683)GAC>GAT			hmmpanther:PTHR10994,hmmpanther:PTHR10994:SF1	reticulon 3 isoform b				ENSP00000367050		9-Mar									COSM3398010	9-Mar	.		ENST00000377819	Transcript			apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		ENSG00000133318	g.chr11:63487657C>T	10469			LOW								--	--	1																																		RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Silent_p.D542D|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Silent_p.D449D|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	1	1			p.D561D	NM_201428	NP_958831			1	RTN3_HUMAN	RTN3	HGNC	O95197	RTN3_HUMAN					3	1870	+			UPI00004546A2	561					SNV	RTN3,synonymous_variant,p.=,ENST00000377819,NM_001265589.1;RTN3,synonymous_variant,p.=,ENST00000339997,NM_201428.2,NM_001265590.1;RTN3,synonymous_variant,p.=,ENST00000540798,;RTN3,intron_variant,,ENST00000356000,NM_201429.2;RTN3,intron_variant,,ENST00000537981,NM_006054.3;RTN3,intron_variant,,ENST00000341307,NM_201430.2;RTN3,intron_variant,,ENST00000354497,NM_001265591.1;RTN3,intron_variant,,ENST00000542238,;RTN3,downstream_gene_variant,,ENST00000545432,;RTN3,downstream_gene_variant,,ENST00000543552,;RTN3,intron_variant,,ENST00000536011,;RTN3,intron_variant,,ENST00000543123,;	uc001nxq.2	c.1683C>T	1837/4937	2	2			c.1683C>T						11	SNP	c.(1681-1683)GAC>GAT	43	43			ovary(1)	1	Broad	reticulon 3 isoform b			63487657		0.408	ENSG00000133318	13507	g.chr11:63487657C>T	apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane								-14.124845	KEEP	3	2	-1	53	72	3	2	-1	10.717765	53	72	0.044643	1	0	0	0	0	0	0	1	0	--	--		0	T			RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Silent_p.D542D|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Silent_p.D449D|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	237	GBM-32-2495-TP	p.D561D	C	TGGTCAGTGACTCTGAGCTGC	NM_201428	NP_958831	63487657	O95197	RTN3_HUMAN	0			3	1870	+	T	T			Silent	561						
RTN4RL2	0	broad.mit.edu	GRCh37	11	57235097	57235097	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-1970-01	TCGA-32-1970-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335099.3:c.47G>C	p.Cys16Ser	p.C16S	ENST00000335099	NM_178570.2	16	tGc/tCc	0			1			C	C/S	uc010rjt.1	protein_coding	YES	CCDS7957.1			47/1263										0	c.(46-48)TGC>TCC			hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF14,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	reticulon 4 receptor-like 2 precursor				ENSP00000335397		3-Feb									COSM3747885	3-Feb	.		ENST00000335099	Transcript			axon regeneration	anchored to plasma membrane	receptor activity	ENSG00000186907	g.chr11:57235097G>C	23053			MODERATE		2.02	medium	getma.org/?cm=msa&ty=f&p=R4RL2_HUMAN&rb=1&re=59&var=C16S	NA	getma.org/?cm=var&var=hg19,11,57235097,G,C&fts=all	C16S	--	--	1																																			1	1		benign(0.152)	p.C16S	NM_178570	NP_848665		tolerated_low_confidence(0.07)	1	R4RL2_HUMAN	RTN4RL2	HGNC	Q86UN3	R4RL2_HUMAN					2	47	+			UPI000004A2DB	16					SNV	RTN4RL2,missense_variant,p.Cys16Ser,ENST00000335099,NM_178570.2;RTN4RL2,missense_variant,p.Cys16Ser,ENST00000533205,;RTN4RL2,missense_variant,p.Cys16Ser,ENST00000395120,;	uc010rjt.1	c.47G>C	364/2203	3	3			c.47G>C						11	SNP	c.(46-48)TGC>TCC	63	63				0	Broad	reticulon 4 receptor-like 2 precursor			57235097		0.682	ENSG00000186907	13512	g.chr11:57235097G>C	axon regeneration	anchored to plasma membrane	receptor activity							-27.084038	KEEP	1	3	-1	96	86	1	3	-1	6.41675	96	86	0.022727	1	0	0	0	0	1	0	0	0	--	--		0	C				228	GBM-32-1970-TP	p.C16S	G	GCCTCGGCCTGCCTCCTGCTG	NM_178570	NP_848665	57235097	Q86UN3	R4RL2_HUMAN	0			2	47	+	C	C			Missense_Mutation	16						
RTP1	132112	broad.mit.edu	GRCh37	3	186917654	186917654	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0122-01	TCGA-06-0122-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312295.4:c.588G>A	p.Glu196=	p.E196=	ENST00000312295	NM_153708.2	196	gaG/gaA	0			1			A	E	uc003frg.2	protein_coding	YES	CCDS3287.2			588/792									ovary(2)|breast(1)	3	c.(586-588)GAG>GAA			Pfam_domain:PF13695,hmmpanther:PTHR14402,hmmpanther:PTHR14402:SF1	receptor transporting protein 1				ENSP00000311712		2-Feb									COSM1291677	2-Feb	.		ENST00000312295	Transcript			protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	ENSG00000175077	g.chr3:186917654G>A	28580			LOW								--	--	1																																			1	1			p.E196E	NM_153708	NP_714919			1	RTP1_HUMAN	RTP1	HGNC	P59025	RTP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)			2	618	+	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		UPI00004E18F3	196			Cytoplasmic (Potential).		SNV	RTP1,synonymous_variant,p.=,ENST00000312295,NM_153708.2;RP11-208N14.4,non_coding_transcript_exon_variant,,ENST00000356133,;	uc003frg.2	c.588G>A	618/2217	1	1			c.588G>A						3	SNP	c.(586-588)GAG>GAA	55	55			ovary(2)|breast(1)	3	Broad	receptor transporting protein 1			186917654		0.692	ENSG00000175077	13513	g.chr3:186917654G>A	protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding							32.38151	KEEP	8	6	-1	24	14	8	6	-1	34.593358	24	14	0.266667	1	0	0	0	0	0	0	1	0	--	--		0	A				10	GBM-06-0122-TP	p.E196E	G	CCTGCCAGGAGGGCATCGTGC	NM_153708	NP_714919	186917654	P59025	RTP1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	618	+	A	A	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		Silent	196			Cytoplasmic (Potential).			
RTP1	0	broad.mit.edu	GRCh37	3	186917604	186917604	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01	TCGA-14-0790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312295.4:c.538C>T	p.Arg180Cys	p.R180C	ENST00000312295	NM_153708.2	180	Cgc/Tgc	0	T:0		1			T	R/C	uc003frg.2	protein_coding	YES	CCDS3287.2			538/792									ovary(2)|breast(1)	3	c.(538-540)CGC>TGC			Pfam_domain:PF13695,hmmpanther:PTHR14402,hmmpanther:PTHR14402:SF1	receptor transporting protein 1			T:0.0001	ENSP00000311712		2-Feb	1.65E-05					3.12E-05			rs372732386,COSM3332715	2-Feb	.		ENST00000312295	Transcript			protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	ENSG00000175077	g.chr3:186917604C>T	28580			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=RTP1_HUMAN&rb=87&re=197&var=R180C	NA	getma.org/?cm=var&var=hg19,3,186917604,C,T&fts=all	R180C	--	--	1																																			0,1	1		possibly_damaging(0.832)	p.R180C	NM_153708	NP_714919		deleterious(0.03)	0,1	RTP1_HUMAN	RTP1	HGNC	P59025	RTP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)			2	568	+	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		UPI00004E18F3	180			Cytoplasmic (Potential).		SNV	RTP1,missense_variant,p.Arg180Cys,ENST00000312295,NM_153708.2;RP11-208N14.4,non_coding_transcript_exon_variant,,ENST00000356133,;	uc003frg.2	c.538C>T	568/2217	2	2			c.538C>T						3	SNP	c.(538-540)CGC>TGC	28	28			ovary(2)|breast(1)	3	Broad	receptor transporting protein 1			186917604		0.682	ENSG00000175077	13513	g.chr3:186917604C>T	protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding							43.107983	KEEP	5	11	-1	14	9	5	11	-1	43.279299	14	9	0.590909	1	0	0	0	0	1	0	0	0	--	--		0	T				137	GBM-14-0790-TP	p.R180C	C	CGTGGCCAGCCGCCAGGACAA	NM_153708	NP_714919	186917604	P59025	RTP1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	568	+	T	T	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		Missense_Mutation	180			Cytoplasmic (Potential).			
RTP1	132112		GRCh37	3	186917605	186917605	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000312295.4:c.539G>A	p.Arg180His	p.R180H	ENST00000312295	NM_153708.2	180	cGc/cAc	0																																																																																																																																																																																																																																												
RTP2	344892	broad.mit.edu	GRCh37	3	187416724	187416724	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358241.1:c.240C>T	p.Arg80=	p.R80=	ENST00000358241	NM_001004312.2	80	cgC/cgT	0			1			A	R	uc003fro.1	protein_coding	YES	CCDS33911.1			240/678										0	c.(238-240)CGC>CGT			Pfam_domain:PF13695,hmmpanther:PTHR14402,hmmpanther:PTHR14402:SF18	receptor transporting protein 2				ENSP00000350976		2-Feb									COSM2149626	2-Feb	.		ENST00000358241	Transcript			protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	ENSG00000198471	g.chr3:187416724G>A	32486			LOW								--	--	1																																			1	1			p.R80R	NM_001004312	NP_001004312			1	RTP2_HUMAN	RTP2	HGNC	Q5QGT7	RTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)			2	669	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		UPI00001D801A	80			Cytoplasmic (Potential).		SNV	RTP2,synonymous_variant,p.=,ENST00000358241,NM_001004312.2;RP11-211G3.3,upstream_gene_variant,,ENST00000449623,;RP11-211G3.3,upstream_gene_variant,,ENST00000437407,;	uc003fro.1	c.240C>T	669/1346	2	2			c.240C>T						3	SNP	c.(238-240)CGC>CGT	30	30				0	Broad	receptor transporting protein 2			187416724		0.657	ENSG00000198471	13514	g.chr3:187416724G>A	protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding							55.046036	KEEP	10	11	-1	14	12	10	11	-1	55.178505	14	12	0.439024	1	0	0	0	0	0	0	1	0	--	--		0	A				18	GBM-06-0137-TP	p.R80R	G	CCCGCTGGGCGCGGTCCAGGA	NM_001004312	NP_001004312	187416724	Q5QGT7	RTP2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)	2	669	-	A	A	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		Silent	80			Cytoplasmic (Potential).			
RTP3	0	broad.mit.edu	GRCh37	3	46542293	46542293	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296142.3:c.603C>T	p.Tyr201=	p.Y201=	ENST00000296142	NM_031440.1	201	taC/taT	0		T:0	1	T:0.0014		T	Y	uc003cps.1	protein_coding	YES	CCDS2740.1			603/699									ovary(2)	2	c.(601-603)TAC>TAT			hmmpanther:PTHR14402,hmmpanther:PTHR14402:SF9	transmembrane protein 7		T:0		ENSP00000296142	T:0	2-Feb	2.47E-05		8.64E-05					0.000123	rs547846654,COSM3408688	2-Feb	.		ENST00000296142	Transcript		T:0.0002	detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	ENSG00000163825	g.chr3:46542293C>T	15572			LOW								--	--	1																																			0,1	1			p.Y201Y	NM_031440	NP_113628	T:0		0,1	RTP3_HUMAN	RTP3	HGNC	Q9BQQ7	RTP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)			2	671	+			UPI000005033A	201			Cytoplasmic (Potential).		SNV	RTP3,synonymous_variant,p.=,ENST00000296142,NM_031440.1;	uc003cps.1	c.603C>T	1175/1321	2	2			c.603C>T						3	SNP	c.(601-603)TAC>TAT	32	32			ovary(2)	2	Broad	transmembrane protein 7			46542293		0.433	ENSG00000163825	13515	g.chr3:46542293C>T	detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding							98.081658	KEEP	15	22	-1	25	36	15	22	-1	99.091206	25	36	0.383721	1	0	0	0	0	0	0	1	0	--	--		0	T				177	GBM-19-5959-TP	p.Y201Y	C	TCTATTCCTACGCATGCCAAA	NM_031440	NP_113628	46542293	Q9BQQ7	RTP3_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)	2	671	+	T	T			Silent	201			Cytoplasmic (Potential).			
RTTN	25914	broad.mit.edu	GRCh37	18	67718690	67718690	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0158-01	TCGA-06-0158-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255674.6:c.5280G>A	p.Pro1760=	p.P1760=	ENST00000255674	NM_173630.3	1760	ccG/ccA	0	T:0	T:0	1	T:0		T	P	uc002lkp.2	protein_coding	YES	CCDS42443.1			5280/6681									ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8	c.(5278-5280)CCG>CCA			hmmpanther:PTHR31691:SF1,hmmpanther:PTHR31691	rotatin		T:0.001	T:0.0007	ENSP00000255674	T:0.001	39/49	0.00238		8.70E-05	0.000116	0.0142	0.00284	0.00223	6.06E-05	rs186543005,COSM2150121	39/49	common_variant		ENST00000255674	Transcript	1	T:0.0006			binding	ENSG00000176225	g.chr18:67718690C>T	18654			LOW								--	--	1																																		RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Silent_p.P848P|RTTN_uc010dqp.2_Silent_p.P12P	0,1	1			p.P1760P	NM_173630	NP_775901	T:0.001		0,1	RTTN_HUMAN	RTTN	HGNC	Q86VV8	RTTN_HUMAN					39	5348	-		Esophageal squamous(42;0.129)	UPI0000201E92	1760					SNV	RTTN,synonymous_variant,p.=,ENST00000255674,NM_173630.3;RTTN,3_prime_UTR_variant,,ENST00000454359,;RTTN,3_prime_UTR_variant,,ENST00000581161,;RTTN,3_prime_UTR_variant,,ENST00000583043,;	uc002lkp.2	c.5280G>A	5567/7326	2	2			c.5280G>A						18	SNP	c.(5278-5280)CCG>CCA	48	48			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8	Broad	rotatin			67718690		0.428	ENSG00000176225	13517	g.chr18:67718690C>T			binding							170.663162	KEEP	31	39	-1	92	82	31	39	-1	180.069405	92	82	0.281818	1	0	0	0	0	0	0	1	0	--	--		0	T			RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Silent_p.P848P|RTTN_uc010dqp.2_Silent_p.P12P	29	GBM-06-0158-TP	p.P1760P	C	CGGTAACAAACGGGAGTGTGA	NM_173630	NP_775901	67718690	Q86VV8	RTTN_HUMAN	0			39	5348	-	T	T		Esophageal squamous(42;0.129)	Silent	1760						
RTTN	0	broad.mit.edu	GRCh37	18	67718720	67718720	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255674.6:c.5250C>A	p.Leu1750=	p.L1750=	ENST00000255674	NM_173630.3	1750	ctC/ctA	0			1			T	L	uc002lkp.2	protein_coding	YES	CCDS42443.1			5250/6681									ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8	c.(5248-5250)CTC>CTA			hmmpanther:PTHR31691:SF1,hmmpanther:PTHR31691	rotatin				ENSP00000255674		39/49									COSM2156074	39/49	.		ENST00000255674	Transcript	1				binding	ENSG00000176225	g.chr18:67718720G>T	18654			LOW								--	--	1																																		RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Silent_p.L838L|RTTN_uc010dqp.2_Silent_p.L2L	1	1			p.L1750L	NM_173630	NP_775901			1	RTTN_HUMAN	RTTN	HGNC	Q86VV8	RTTN_HUMAN					39	5318	-		Esophageal squamous(42;0.129)	UPI0000201E92	1750					SNV	RTTN,synonymous_variant,p.=,ENST00000255674,NM_173630.3;RTTN,3_prime_UTR_variant,,ENST00000454359,;RTTN,3_prime_UTR_variant,,ENST00000581161,;RTTN,3_prime_UTR_variant,,ENST00000583043,;	uc002lkp.2	c.5250C>A	5537/7326	1	1			c.5250C>A						18	SNP	c.(5248-5250)CTC>CTA	2	2			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8	Broad	rotatin			67718720		0.408	ENSG00000176225	13517	g.chr18:67718720G>T			binding							72.128955	KEEP	20	14	0.588235294	39	36	20	14	0.588235294	76.0846	39	36	0.29	1	0	0	0	0	0	0	1	0	--	--		0	T			RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Silent_p.L838L|RTTN_uc010dqp.2_Silent_p.L2L	160	GBM-19-1790-TP	p.L1750L	G	CTTTCCTCAGGAGCATGGCCA	NM_173630	NP_775901	67718720	Q86VV8	RTTN_HUMAN	0			39	5318	-	T	T		Esophageal squamous(42;0.129)	Silent	1750						
RTTN	0	broad.mit.edu	GRCh37	18	67871471	67871471	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-2495-01	TCGA-32-2495-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255674.6:c.248A>G	p.Asp83Gly	p.D83G	ENST00000255674	NM_173630.3	83	gAc/gGc	0			1			C	D/G	uc002lkp.2	protein_coding	YES	CCDS42443.1			248/6681									ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8	c.(247-249)GAC>GGC			Superfamily_domains:SSF48371,Pfam_domain:PF14726,hmmpanther:PTHR31691:SF1,hmmpanther:PTHR31691	rotatin				ENSP00000255674		Mar-49									COSM3403627	Mar-49	.		ENST00000255674	Transcript	1				binding	ENSG00000176225	g.chr18:67871471T>C	18654			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=RTTN_HUMAN&rb=2&re=2221&var=D83G	NA	getma.org/?cm=var&var=hg19,18,67871471,T,C&fts=all	D83G	--	--	1																																		RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Missense_Mutation_p.D83G	1	1		benign(0.006)	p.D83G	NM_173630	NP_775901		tolerated(0.46)	1	RTTN_HUMAN	RTTN	HGNC	Q86VV8	RTTN_HUMAN					3	316	-		Esophageal squamous(42;0.129)	UPI0000201E92	83					SNV	RTTN,missense_variant,p.Asp83Gly,ENST00000255674,NM_173630.3;RTTN,missense_variant,p.Asp83Gly,ENST00000454359,;RTTN,missense_variant,p.Asp83Gly,ENST00000437017,;RTTN,missense_variant,p.Asp83Gly,ENST00000581161,;RTTN,non_coding_transcript_exon_variant,,ENST00000581583,;	uc002lkp.2	c.248A>G	535/7326	3	3			c.248A>G						18	SNP	c.(247-249)GAC>GGC	64	64			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8	Broad	rotatin			67871471		0.388	ENSG00000176225	13517	g.chr18:67871471T>C			binding							-35.146422	KEEP	2	2	-1	84	122	2	2	-1	8.941681	84	122	0.022989	1	0	0	0	0	1	0	0	0	--	--		0	C			RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Missense_Mutation_p.D83G	237	GBM-32-2495-TP	p.D83G	T	TGCACCAACGTCAACCAAATG	NM_173630	NP_775901	67871471	Q86VV8	RTTN_HUMAN	0			3	316	-	C	C		Esophageal squamous(42;0.129)	Missense_Mutation	83						
RTTN	0	broad.mit.edu	GRCh37	18	67684705	67684705	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-32-2495-01	TCGA-32-2495-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255674.6:c.6359delC	p.Pro2120LeufsTer50	p.P2120Lfs*50	ENST00000255674	NM_173630.3	2120	cCt/ct	0			1			-	P/X	uc002lkp.2	protein_coding	YES	CCDS42443.1			6359/6681									ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8	c.(6358-6360)CCTfs			Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR31691:SF1,hmmpanther:PTHR31691	rotatin				ENSP00000255674		46/49										46/49	.		ENST00000255674	Transcript	1				binding	ENSG00000176225	g.chr18:67684705delG	18654			HIGH								--	--	1																																		RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Frame_Shift_Del_p.P1208fs|RTTN_uc002lkn.2_Frame_Shift_Del_p.P110fs|RTTN_uc010dqp.2_Frame_Shift_Del_p.P372fs		1			p.P2120fs	NM_173630	NP_775901				RTTN_HUMAN	RTTN	HGNC	Q86VV8	RTTN_HUMAN					46	6427	-		Esophageal squamous(42;0.129)	UPI0000201E92	2120					deletion	RTTN,frameshift_variant,p.Pro2120LeufsTer50,ENST00000255674,NM_173630.3;RTTN,frameshift_variant,p.Pro104LeufsTer50,ENST00000578780,;RTTN,3_prime_UTR_variant,,ENST00000454359,;RTTN,downstream_gene_variant,,ENST00000579986,;RTTN,downstream_gene_variant,,ENST00000583765,;RTTN,downstream_gene_variant,,ENST00000579021,;RTTN,3_prime_UTR_variant,,ENST00000581161,;RTTN,3_prime_UTR_variant,,ENST00000583043,;RTTN,non_coding_transcript_exon_variant,,ENST00000580034,;	uc002lkp.2	c.6359delC	6646/7326	5	5			c.6359delC						18	DEL	c.(6358-6360)CCTfs	12	12			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8	Broad	rotatin			67684705		0.388	ENSG00000176225	13517	g.chr18:67684705delG			binding																				0.06	1	1	0	1	0	0	0	0	0	--	--		0	-			RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Frame_Shift_Del_p.P1208fs|RTTN_uc002lkn.2_Frame_Shift_Del_p.P110fs|RTTN_uc010dqp.2_Frame_Shift_Del_p.P372fs	237	GBM-32-2495-TP	p.P2120fs	G	GATAAGAAGAGGCAATAAAGG	NM_173630	NP_775901	67684705	Q86VV8	RTTN_HUMAN	0			46	6427	-	-	-		Esophageal squamous(42;0.129)	Frame_Shift_Del	2120						
RUFY1	0	broad.mit.edu	GRCh37	5	179036447	179036447	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-6698-01	TCGA-06-6698-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319449.4:c.2054A>C	p.Tyr685Ser	p.Y685S	ENST00000319449	NM_025158.4	685	tAc/tCc	0			1			C	Y/S	uc003mka.1	protein_coding	YES	CCDS4445.2			2054/2127									ovary(4)|breast(1)	5	c.(2053-2055)TAC>TCC			PROSITE_profiles:PS50089,PROSITE_profiles:PS50178,hmmpanther:PTHR22835:SF84,hmmpanther:PTHR22835,Pfam_domain:PF01363,Gene3D:3.30.40.10,SMART_domains:SM00064,Superfamily_domains:SSF57903	RUN and FYVE domain-containing 1 isoform a				ENSP00000325594		18/18	0.000791	0.000197	8.80E-05		0.00335	0.000274		6.11E-05	rs766902963,COSM3748299,COSM3748298	18/18	common_variant		ENST00000319449	Transcript			endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	ENSG00000176783	g.chr5:179036447A>C	19760			MODERATE		-0.88	neutral	getma.org/?cm=msa&ty=f&p=RUFY1_HUMAN&rb=637&re=701&var=Y685S	getma.org/pdb.php?prot=RUFY1_HUMAN&from=637&to=701&var=Y685S	getma.org/?cm=var&var=hg19,5,179036447,A,C&fts=all	Y685S	--	--	1				HNSCC(44;0.11)																														RUFY1_uc003mkb.1_Missense_Mutation_p.Y577S|RUFY1_uc003mkc.1_Missense_Mutation_p.Y577S|RUFY1_uc003mkd.1_Missense_Mutation_p.Y287S	0,1,1	1		probably_damaging(0.998)	p.Y685S	NM_025158	NP_079434		tolerated(0.84)	0,1,1	RUFY1_HUMAN	RUFY1	HGNC	Q96T51	RUFY1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)				18	2054	+	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	UPI0000D74C3F	685			FYVE-type.		SNV	RUFY1,missense_variant,p.Tyr685Ser,ENST00000319449,NM_025158.4;RUFY1,missense_variant,p.Tyr577Ser,ENST00000437570,NM_001040451.2;RUFY1,missense_variant,p.Tyr577Ser,ENST00000393438,NM_001040452.2;RUFY1,3_prime_UTR_variant,,ENST00000377001,;HNRNPH1,downstream_gene_variant,,ENST00000356731,;HNRNPH1,downstream_gene_variant,,ENST00000393432,NM_001257293.1;HNRNPH1,downstream_gene_variant,,ENST00000442819,NM_005520.2;HNRNPH1,downstream_gene_variant,,ENST00000329433,;HNRNPH1,downstream_gene_variant,,ENST00000510411,;HNRNPH1,downstream_gene_variant,,ENST00000511300,;RUFY1,downstream_gene_variant,,ENST00000502434,;RUFY1,non_coding_transcript_exon_variant,,ENST00000508797,;RUFY1,non_coding_transcript_exon_variant,,ENST00000503583,;HNRNPH1,downstream_gene_variant,,ENST00000515481,;HNRNPH1,downstream_gene_variant,,ENST00000502904,;HNRNPH1,downstream_gene_variant,,ENST00000514332,;HNRNPH1,downstream_gene_variant,,ENST00000510678,;RUFY1,downstream_gene_variant,,ENST00000502531,;	uc003mka.1	c.2054A>C	2066/2646	4	4			c.2054A>C						5	SNP	c.(2053-2055)TAC>TCC	39	39			ovary(4)|breast(1)	5	Broad	RUN and FYVE domain-containing 1 isoform a			179036447		0.647	ENSG00000176783	13518	g.chr5:179036447A>C	endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding							0.98016	KEEP	6	10	-1	21	35	6	10	-1	7.542632	21	35	0.169492	1	0	0	0	0	1	0	0	0	--	--	HNSCC(44;0.11)	0	C			RUFY1_uc003mkb.1_Missense_Mutation_p.Y577S|RUFY1_uc003mkc.1_Missense_Mutation_p.Y577S|RUFY1_uc003mkd.1_Missense_Mutation_p.Y287S	112	GBM-06-6698-TP	p.Y685S	A	CTGCCCTCCTACCCCAAGCCG	NM_025158	NP_079434	179036447	Q96T51	RUFY1_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		18	2054	+	C	C	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Missense_Mutation	685			FYVE-type.			
RUFY2	0	broad.mit.edu	GRCh37	10	70154149	70154149	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-4068-01	TCGA-19-4068-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388768.2:c.563T>C	p.Leu188Pro	p.L188P	ENST00000388768	NM_017987.4	188	cTg/cCg	0			1			G	L/P	uc001job.2	protein_coding	YES	CCDS41534.1			563/1926									ovary(1)	1	c.(562-564)CTG>CCG			Superfamily_domains:0052343,Pfam_domain:PF02759,PROSITE_profiles:PS50826,hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF104,Low_complexity_(Seg):seg,SMART_domains:SM00593	RUN and FYVE domain-containing 2 isoform a				ENSP00000373420		18-May									COSM3397214,COSM3397216,COSM3397215	18-May	.		ENST00000388768	Transcript				nucleus	metal ion binding	ENSG00000204130	g.chr10:70154149A>G	19761			MODERATE		2.88	medium	getma.org/?cm=msa&ty=f&p=RUFY2_HUMAN&rb=94&re=217&var=L202P	getma.org/pdb.php?prot=RUFY2_HUMAN&from=94&to=217&var=L202P	getma.org/?cm=var&var=hg19,10,70154149,A,G&fts=all	L202P	--	--	1																																		RUFY2_uc001jnz.1_RNA|RUFY2_uc001joc.2_Missense_Mutation_p.L119P|RUFY2_uc010qiw.1_Missense_Mutation_p.L95P|RUFY2_uc001jod.1_Missense_Mutation_p.L153P|RUFY2_uc009xpv.1_Missense_Mutation_p.L36P|RUFY2_uc001joe.1_Missense_Mutation_p.L153P	1,1,1	1		probably_damaging(0.998)	p.L188P	NM_017987	NP_060457		deleterious(0)	1,1,1	RUFY2_HUMAN	RUFY2	HGNC	Q8WXA3	RUFY2_HUMAN					5	890	-			UPI000046FD20	202			RUN.		SNV	RUFY2,missense_variant,p.Leu188Pro,ENST00000388768,NM_017987.4;RUFY2,missense_variant,p.Leu153Pro,ENST00000602465,;RUFY2,missense_variant,p.Leu119Pro,ENST00000399200,NM_001042417.1;RUFY2,missense_variant,p.Leu95Pro,ENST00000454950,NM_001278225.1;RUFY2,missense_variant,p.Leu153Pro,ENST00000342616,;RUFY2,non_coding_transcript_exon_variant,,ENST00000472394,;RUFY2,missense_variant,p.Leu167Pro,ENST00000466493,;	uc001job.2	c.563T>C	890/4512	3	3			c.563T>C						10	SNP	c.(562-564)CTG>CCG	9	9			ovary(1)	1	Broad	RUN and FYVE domain-containing 2 isoform a			70154149		0.383	ENSG00000204130	13519	g.chr10:70154149A>G		nucleus	metal ion binding							-11.845471	KEEP	0	6	-1	38	54	0	6	-1	6.396097	38	54	0.037975	1	0	0	0	0	1	0	0	0	--	--		0	G			RUFY2_uc001jnz.1_RNA|RUFY2_uc001joc.2_Missense_Mutation_p.L119P|RUFY2_uc010qiw.1_Missense_Mutation_p.L95P|RUFY2_uc001jod.1_Missense_Mutation_p.L153P|RUFY2_uc009xpv.1_Missense_Mutation_p.L36P|RUFY2_uc001joe.1_Missense_Mutation_p.L153P	168	GBM-19-4068-TP	p.L188P	A	GCCAACCAGCAGCCCAACAAT	NM_017987	NP_060457	70154149	Q8WXA3	RUFY2_HUMAN	0			5	890	-	G	G			Missense_Mutation	202			RUN.			
RUFY4	285180	broad.mit.edu	GRCh37	2	218940356	218940356	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2570-01	TCGA-06-2570-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374155.3:c.1201G>A	p.Ala401Thr	p.A401T	ENST00000374155		401	Gca/Aca	0	T:0.0003		1			A	A/T	uc002vgw.2	protein_coding					1141/1716									pancreas(1)	1	c.(622-624)GCA>ACA			hmmpanther:PTHR18851:SF13,hmmpanther:PTHR18851	RUN and FYVE domain containing 4			T:0	ENSP00000345900		13-Sep	8.39E-06							0.000111	rs369707895,COSM3407565,COSM3407566	13-Sep	.		ENST00000344321	Transcript					metal ion binding	ENSG00000188282	g.chr2:218940356G>A	24804			MODERATE		-0.55	neutral	getma.org/?cm=msa&ty=f&p=RUFY4_HUMAN&rb=181&re=409&var=A381T	NA	getma.org/?cm=var&var=hg19,2,218940356,G,A&fts=all	A381T	--	--	1																																		RUFY4_uc002vgy.1_RNA|RUFY4_uc010fvl.1_Missense_Mutation_p.A208T	0,1,1			benign(0.001)	p.A208T	NM_198483	NP_940885		tolerated(0.12)	0,1,1	RUFY4_HUMAN	RUFY4	HGNC	Q6ZNE9	RUFY4_HUMAN		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)			10	2466	+		Renal(207;0.0915)	UPI0001838867	381					SNV	RUFY4,missense_variant,p.Ala401Thr,ENST00000374155,;RUFY4,missense_variant,p.Ala381Thr,ENST00000344321,NM_198483.3;RUFY4,3_prime_UTR_variant,,ENST00000441828,;RUFY4,non_coding_transcript_exon_variant,,ENST00000463872,;RUFY4,downstream_gene_variant,,ENST00000465568,;RUFY4,downstream_gene_variant,,ENST00000472496,;RUFY4,3_prime_UTR_variant,,ENST00000457754,;RUFY4,downstream_gene_variant,,ENST00000495721,;	uc002vgw.2	c.622G>A	1659/2760	1	1			c.622G>A						2	SNP	c.(622-624)GCA>ACA	62	62			pancreas(1)	1	Broad	RUN and FYVE domain containing 4			218940356		0.622	ENSG00000188282	13521	g.chr2:218940356G>A			metal ion binding							79.14204	KEEP	9	20	-1	18	20	9	20	-1	79.374275	18	20	0.433333	1	0	0	0	0	1	0	0	0	--	--		0	A			RUFY4_uc002vgy.1_RNA|RUFY4_uc010fvl.1_Missense_Mutation_p.A208T	91	GBM-06-2570-TP	p.A208T	G	TCAGGGACACGCAACAAAGGA	NM_198483	NP_940885	218940356	Q6ZNE9	RUFY4_HUMAN	0		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	10	2466	+	A	A		Renal(207;0.0915)	Missense_Mutation	381						
RUNDC3B	154661	broad.mit.edu	GRCh37	7	87258211	87258211	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-06-0152-01	TCGA-06-0152-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338056.3:c.72G>C	p.Leu24=	p.L24=	ENST00000338056	NM_138290.2	24	ctG/ctC	0			1			C	L	uc003ujb.2	protein_coding	YES	CCDS5609.1			72/1422									skin(1)	1	c.(70-72)CTG>CTC			Low_complexity_(Seg):seg,hmmpanther:PTHR22835:SF124,hmmpanther:PTHR22835	RUN domain containing 3B isoform a				ENSP00000337732		12-Jan	8.91E-06							0.000375	rs755363799,COSM3412445	12-Jan	.		ENST00000338056	Transcript						ENSG00000105784	g.chr7:87258211G>C	30286			LOW								--	--	1																																		ABCB1_uc003uiz.1_Intron|ABCB1_uc003uja.1_Intron|ABCB1_uc010lei.1_Intron|RUNDC3B_uc011khd.1_Silent_p.L24L|RUNDC3B_uc011khe.1_Silent_p.L24L|RUNDC3B_uc003ujc.2_Silent_p.L24L	0,1	1			p.L24L	NM_138290	NP_612147			0,1	RUN3B_HUMAN	RUNDC3B	HGNC	Q96NL0	RUN3B_HUMAN					1	483	+	Esophageal squamous(14;0.00164)		UPI0000071425	24					SNV	RUNDC3B,synonymous_variant,p.=,ENST00000338056,NM_138290.2,NM_001134405.1;RUNDC3B,synonymous_variant,p.=,ENST00000394654,;RUNDC3B,synonymous_variant,p.=,ENST00000493037,NM_001134406.1;ABCB1,intron_variant,,ENST00000265724,NM_000927.4;ABCB1,intron_variant,,ENST00000416177,;snoU13,downstream_gene_variant,,ENST00000459484,;ABCB1,intron_variant,,ENST00000476862,;RUNDC3B,intron_variant,,ENST00000466676,;RUNDC3B,intron_variant,,ENST00000497788,;RUNDC3B,upstream_gene_variant,,ENST00000489461,;RUNDC3B,non_coding_transcript_exon_variant,,ENST00000476114,;	uc003ujb.2	c.72G>C	483/4099	3	3			c.72G>C						7	SNP	c.(70-72)CTG>CTC	9	9			skin(1)	1	Broad	RUN domain containing 3B isoform a			87258211		0.716	ENSG00000105784	13525	g.chr7:87258211G>C										5.142438	KEEP	0	2	-1	5	6	0	2	-1	6.406326	5	6	0.166667	1	0	0	0	0	0	0	1	0	--	--		0	C			ABCB1_uc003uiz.1_Intron|ABCB1_uc003uja.1_Intron|ABCB1_uc010lei.1_Intron|RUNDC3B_uc011khd.1_Silent_p.L24L|RUNDC3B_uc011khe.1_Silent_p.L24L|RUNDC3B_uc003ujc.2_Silent_p.L24L	25	GBM-06-0152-TP	p.L24L	G	AGAAAAGCCTGAGCGCCCGCA	NM_138290	NP_612147	87258211	Q96NL0	RUN3B_HUMAN	0			1	483	+	C	C	Esophageal squamous(14;0.00164)		Silent	24						
RUNX1T1	0	broad.mit.edu	GRCh37	8	93027036	93027036	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5216-01	TCGA-28-5216-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265814.3:c.239C>T	p.Thr80Met	p.T80M	ENST00000265814	NM_001198628.1	80	aCg/aTg	0			1			A	T/M	uc003yfd.2	protein_coding		CCDS6256.1			239/1815									lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16	c.(238-240)ACG>ATG			hmmpanther:PTHR10379,hmmpanther:PTHR10379:SF5	acute myelogenous leukemia 1 translocation 1				ENSP00000265814		11-Mar	2.47E-05			0.000116		1.53E-05		6.81E-05	rs758568072,COSM3413161,COSM3413160,COSM3413159	11-Mar	.		ENST00000265814	Transcript	1		generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000079102	g.chr8:93027036G>A	1535			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=MTG8_HUMAN&rb=1&re=119&var=T80M	NA	getma.org/?cm=var&var=hg19,8,93027036,G,A&fts=all	T80M	--	--	1																																		RUNX1T1_uc003yfc.1_Missense_Mutation_p.T53M|RUNX1T1_uc003yfe.1_Missense_Mutation_p.T43M|RUNX1T1_uc010mao.2_Missense_Mutation_p.T53M|RUNX1T1_uc011lgi.1_Missense_Mutation_p.T91M|RUNX1T1_uc003yfh.1_Missense_Mutation_p.T43M|RUNX1T1_uc003yfb.1_Missense_Mutation_p.T43M|RUNX1T1_uc003yff.1_Missense_Mutation_p.T43M|RUNX1T1_uc003yfg.1_Missense_Mutation_p.T43M	0,1,1,1			possibly_damaging(0.513)	p.T80M	NM_175634	NP_783552		tolerated(0.19)	0,1,1,1	MTG8_HUMAN	RUNX1T1	HGNC	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		Q9HBV9_HUMAN,Q8TDW8_HUMAN,E7EX23_HUMAN,E7EWJ9_HUMAN,E7ETA8_HUMAN,E7ESA9_HUMAN,E7ERJ9_HUMAN,E7EQW7_HUMAN,E7EQW3_HUMAN,E7EQI9_HUMAN,E7EQ59_HUMAN,E5RK76_HUMAN,E5RJB3_HUMAN,E5RHJ8_HUMAN,E5RH72_HUMAN,E5RH30_HUMAN,E5RG85_HUMAN		3	323	-			UPI000012F7B4	80					SNV	RUNX1T1,missense_variant,p.Thr80Met,ENST00000523629,NM_175634.2,NM_001198633.1,NM_001198630.1,NM_001198626.1;RUNX1T1,missense_variant,p.Thr53Met,ENST00000396218,NM_004349.3;RUNX1T1,missense_variant,p.Thr80Met,ENST00000265814,NM_001198628.1,NM_001198631.1,NM_001198629.1;RUNX1T1,missense_variant,p.Thr53Met,ENST00000518844,NM_001198627.1,NM_001198625.1;RUNX1T1,missense_variant,p.Thr43Met,ENST00000422361,NM_175636.2;RUNX1T1,missense_variant,p.Thr43Met,ENST00000360348,NM_175635.2,NM_001198632.1;RUNX1T1,missense_variant,p.Thr43Met,ENST00000520724,NM_001198679.1,NM_001198634.1;RUNX1T1,missense_variant,p.Thr91Met,ENST00000436581,;RUNX1T1,missense_variant,p.Thr43Met,ENST00000521553,;RUNX1T1,missense_variant,p.Thr80Met,ENST00000519847,;RUNX1T1,missense_variant,p.Thr80Met,ENST00000518992,;RUNX1T1,missense_variant,p.Thr80Met,ENST00000517919,;RUNX1T1,missense_variant,p.Thr43Met,ENST00000521319,;RUNX1T1,missense_variant,p.Thr80Met,ENST00000522467,;RUNX1T1,missense_variant,p.Thr80Met,ENST00000521375,;RUNX1T1,missense_variant,p.Thr43Met,ENST00000518832,;RUNX1T1,missense_variant,p.Thr43Met,ENST00000521054,;RUNX1T1,missense_variant,p.Thr43Met,ENST00000520556,;RUNX1T1,missense_variant,p.Thr53Met,ENST00000518317,;RUNX1T1,missense_variant,p.Thr80Met,ENST00000520583,;RUNX1T1,missense_variant,p.Thr53Met,ENST00000521733,;RUNX1T1,missense_variant,p.Thr80Met,ENST00000520974,;RUNX1T1,missense_variant,p.Thr53Met,ENST00000518823,;RUNX1T1,missense_variant,p.Thr80Met,ENST00000523168,;RUNX1T1,missense_variant,p.Thr43Met,ENST00000517792,;RUNX1T1,downstream_gene_variant,,ENST00000518954,;RUNX1T1,downstream_gene_variant,,ENST00000519061,;RUNX1T1,downstream_gene_variant,,ENST00000520428,;RUNX1T1,intron_variant,,ENST00000522316,;RUNX1T1,downstream_gene_variant,,ENST00000522163,;RUNX1T1,downstream_gene_variant,,ENST00000520172,;RUNX1T1,downstream_gene_variant,,ENST00000518256,;RUNX1T1,downstream_gene_variant,,ENST00000522860,;RUNX1T1,downstream_gene_variant,,ENST00000522065,;RUNX1T1,3_prime_UTR_variant,,ENST00000519422,;RUNX1T1,3_prime_UTR_variant,,ENST00000519577,;RUNX1T1,3_prime_UTR_variant,,ENST00000524215,;RUNX1T1,3_prime_UTR_variant,,ENST00000521897,;RUNX1T1,non_coding_transcript_exon_variant,,ENST00000523290,;RUNX1T1,downstream_gene_variant,,ENST00000517493,;RUNX1T1,downstream_gene_variant,,ENST00000521902,;	uc003yfd.2	c.239C>T	323/3217	1	1			c.239C>T						8	SNP	c.(238-240)ACG>ATG	59	59			lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16	Broad	acute myelogenous leukemia 1 translocation 1			93027036		0.473	ENSG00000079102	13527	g.chr8:93027036G>A	generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			213			213	144.47927	KEEP	23	30	-1	18	18	23	30	-1	145.069492	18	18	0.590361	1	0	0	0	0	1	0	0	0	--	--		0	A			RUNX1T1_uc003yfc.1_Missense_Mutation_p.T53M|RUNX1T1_uc003yfe.1_Missense_Mutation_p.T43M|RUNX1T1_uc010mao.2_Missense_Mutation_p.T53M|RUNX1T1_uc011lgi.1_Missense_Mutation_p.T91M|RUNX1T1_uc003yfh.1_Missense_Mutation_p.T43M|RUNX1T1_uc003yfb.1_Missense_Mutation_p.T43M|RUNX1T1_uc003yff.1_Missense_Mutation_p.T43M|RUNX1T1_uc003yfg.1_Missense_Mutation_p.T43M	223	GBM-28-5216-TP	p.T80M	G	AGAATGGCTCGTGCCATTAGT	NM_175634	NP_783552	93027036	Q06455	MTG8_HUMAN	0	BRCA - Breast invasive adenocarcinoma(11;0.0141)		3	323	-	A	A			Missense_Mutation	80						
RUNX2	860	broad.mit.edu	GRCh37	6	45514682	45514682	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0189-01	TCGA-06-0189-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371438.1:c.1206G>A	p.Pro402=	p.P402=	ENST00000371438	NM_001024630.3	402	ccG/ccA	0			1			A	P	uc011dvx.1	protein_coding	YES	CCDS43467.2			1206/1566									ovary(2)|skin(1)	3	c.(1204-1206)CCG>CCA			Gene3D:1b8xA03,PIRSF_domain:PIRSF009374,hmmpanther:PTHR11950,hmmpanther:PTHR11950:SF7	runt-related transcription factor 2 isoform a				ENSP00000360493		8-Aug	2.47E-05					4.50E-05			rs200992166,COSM3352798,COSM3352797	8-Aug	.		ENST00000371438	Transcript	1		negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	ENSG00000124813	g.chr6:45514682G>A	10472			LOW								--	--	1																																		RUNX2_uc011dvy.1_Silent_p.P380P|RUNX2_uc003oxt.2_Silent_p.P388P	0,1,1	1			p.P402P	NM_001024630	NP_001019801			0,1,1	RUNX2_HUMAN	RUNX2	HGNC	Q13950	RUNX2_HUMAN			U3RG86_HUMAN		9	1416	+			UPI000013532F	402			Interaction with MYST3 (By similarity).|Pro/Ser/Thr-rich.|Interaction with MYST4.		SNV	RUNX2,synonymous_variant,p.=,ENST00000371438,NM_001024630.3;RUNX2,synonymous_variant,p.=,ENST00000371432,NM_001278478.1;RUNX2,synonymous_variant,p.=,ENST00000359524,;RUNX2,synonymous_variant,p.=,ENST00000465038,;RUNX2,synonymous_variant,p.=,ENST00000352853,;RUNX2,synonymous_variant,p.=,ENST00000541979,NM_001015051.3;RUNX2,synonymous_variant,p.=,ENST00000371436,;RUNX2,intron_variant,,ENST00000576263,;RUNX2,3_prime_UTR_variant,,ENST00000483377,;RUNX2,intron_variant,,ENST00000478660,;	uc011dvx.1	c.1206G>A	1564/5698	2	2			c.1206G>A						6	SNP	c.(1204-1206)CCG>CCA	47	47			ovary(2)|skin(1)	3	Broad	runt-related transcription factor 2 isoform a			45514682		0.577	ENSG00000124813	13528	g.chr6:45514682G>A	negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			190			190	-8.52377	KEEP	3	3	-1	66	71	3	3	-1	11.715614	66	71	0.06	1	0	0	0	0	0	0	1	0	--	--		0	A			RUNX2_uc011dvy.1_Silent_p.P380P|RUNX2_uc003oxt.2_Silent_p.P388P	42	GBM-06-0189-TP	p.P402P	G	CTTACACCCCGCCAGTCACCT	NM_001024630	NP_001019801	45514682	Q13950	RUNX2_HUMAN	0			9	1416	+	A	A			Silent	402			Interaction with MYST3 (By similarity).|Pro/Ser/Thr-rich.|Interaction with MYST4.			
RUNX2	0	broad.mit.edu	GRCh37	6	45390685	45390685	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-1439-01	TCGA-26-1439-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371438.1:c.414G>A	p.Val138=	p.V138=	ENST00000371438	NM_001024630.3	138	gtG/gtA	0			1			A	V	uc011dvx.1	protein_coding	YES	CCDS43467.2			414/1566									ovary(2)|skin(1)	3	c.(412-414)GTG>GTA			Gene3D:2.60.40.720,Pfam_domain:PF00853,PIRSF_domain:PIRSF009374,Prints_domain:PR00967,PROSITE_profiles:PS51062,hmmpanther:PTHR11950,hmmpanther:PTHR11950:SF7,Superfamily_domains:SSF49417	runt-related transcription factor 2 isoform a				ENSP00000360493		8-Feb									COSM3411142,COSM3411141	8-Feb	.		ENST00000371438	Transcript	1		negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	ENSG00000124813	g.chr6:45390685G>A	10472			LOW								--	--	1																																		RUNX2_uc011dvy.1_Silent_p.V138V|RUNX2_uc003oxt.2_Silent_p.V124V	1,1	1			p.V138V	NM_001024630	NP_001019801			1,1	RUNX2_HUMAN	RUNX2	HGNC	Q13950	RUNX2_HUMAN			U3RG86_HUMAN		3	624	+			UPI000013532F	138			Runt.		SNV	RUNX2,synonymous_variant,p.=,ENST00000371438,NM_001024630.3;RUNX2,synonymous_variant,p.=,ENST00000371432,NM_001278478.1;RUNX2,synonymous_variant,p.=,ENST00000359524,;RUNX2,synonymous_variant,p.=,ENST00000576263,;RUNX2,synonymous_variant,p.=,ENST00000352853,;RUNX2,synonymous_variant,p.=,ENST00000465038,;RUNX2,synonymous_variant,p.=,ENST00000541979,NM_001015051.3;RUNX2,synonymous_variant,p.=,ENST00000371436,;RP1-244F24.1,upstream_gene_variant,,ENST00000606796,;RUNX2,synonymous_variant,p.=,ENST00000478660,;RUNX2,intron_variant,,ENST00000483377,;	uc011dvx.1	c.414G>A	772/5698	2	2			c.414G>A						6	SNP	c.(412-414)GTG>GTA	29	29			ovary(2)|skin(1)	3	Broad	runt-related transcription factor 2 isoform a			45390685		0.577	ENSG00000124813	13528	g.chr6:45390685G>A	negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			190			190	1.362505	KEEP	2	3	-1	20	36	2	3	-1	9.831226	20	36	0.083333	1	0	0	0	0	0	0	1	0	--	--		0	A			RUNX2_uc011dvy.1_Silent_p.V138V|RUNX2_uc003oxt.2_Silent_p.V124V	179	GBM-26-1439-TP	p.V138V	G	CCCTGCCCGTGGCCTTCAAGG	NM_001024630	NP_001019801	45390685	Q13950	RUNX2_HUMAN	0			3	624	+	A	A			Silent	138			Runt.			
RUSC1	0	broad.mit.edu	GRCh37	1	155291139	155291139	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A			TCGA-14-1043-01	TCGA-14-1043-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000446880.1:n.197C>T		*66*	ENST00000446880				0			1			A		uc001fki.2	protein_coding	YES	CCDS41410.1			-/2709										0	c.(139-141)TAC>TAT				hypothetical protein LOC284618				ENSP00000357336													.		ENST00000368352	Transcript						ENSG00000160753	g.chr1:155291139G>A	17153			MODIFIER	9-Jan							--	--	1																																		RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_RNA|RUSC1_uc001fkj.2_Intron|RUSC1_uc001fkk.2_Intron|RUSC1_uc009wqn.1_5'Flank|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank		1			p.Y47Y	NM_001039517	NP_001034606				RUSC1_HUMAN	RUSC1	HGNC	Q66K80	RUAS1_HUMAN	Epithelial(20;1.32e-10)|all cancers(21;3.51e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Q68CX2_HUMAN		2	418	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		UPI000046FDA5	47					SNV	RUSC1,intron_variant,,ENST00000368352,NM_001105203.1;RUSC1,intron_variant,,ENST00000368354,NM_001105204.1;RUSC1,upstream_gene_variant,,ENST00000368347,NM_014328.4,NM_001278228.1,NM_001278229.1,NM_001105205.1,NM_001278227.1;RUSC1,upstream_gene_variant,,ENST00000292254,NM_001278230.1;RUSC1,upstream_gene_variant,,ENST00000368349,;FDPS,downstream_gene_variant,,ENST00000356657,NM_001135821.1;FDPS,downstream_gene_variant,,ENST00000368356,NM_002004.3;FDPS,downstream_gene_variant,,ENST00000447866,NM_001242825.1,NM_001135822.1,NM_001242824.1;RUSC1-AS1,non_coding_transcript_exon_variant,,ENST00000446880,;RUSC1-AS1,non_coding_transcript_exon_variant,,ENST00000450199,;RUSC1-AS1,non_coding_transcript_exon_variant,,ENST00000543656,;RUSC1-AS1,intron_variant,,ENST00000443642,;RUSC1,upstream_gene_variant,,ENST00000462780,;RUSC1,upstream_gene_variant,,ENST00000471876,;RUSC1,upstream_gene_variant,,ENST00000490373,;RUSC1,upstream_gene_variant,,ENST00000497930,;RUSC1,upstream_gene_variant,,ENST00000492536,;FDPS,downstream_gene_variant,,ENST00000461507,;RUSC1,upstream_gene_variant,,ENST00000484664,;FDPS,downstream_gene_variant,,ENST00000489003,;FDPS,downstream_gene_variant,,ENST00000468479,;RUSC1,upstream_gene_variant,,ENST00000489860,;RUSC1,upstream_gene_variant,,ENST00000479924,;RUSC1,upstream_gene_variant,,ENST00000467820,;FDPS,downstream_gene_variant,,ENST00000491013,;FDPS,downstream_gene_variant,,ENST00000467076,;FDPS,downstream_gene_variant,,ENST00000495308,;RUSC1,upstream_gene_variant,,ENST00000473331,;FDPS,downstream_gene_variant,,ENST00000470171,;FDPS,downstream_gene_variant,,ENST00000477057,;FDPS,downstream_gene_variant,,ENST00000474345,;RUSC1,upstream_gene_variant,,ENST00000468764,;FDPS,downstream_gene_variant,,ENST00000490140,;FDPS,downstream_gene_variant,,ENST00000465559,;RUSC1,upstream_gene_variant,,ENST00000485924,;FDPS,downstream_gene_variant,,ENST00000492244,;FDPS,downstream_gene_variant,,ENST00000471117,;FDPS,downstream_gene_variant,,ENST00000492887,;FDPS,downstream_gene_variant,,ENST00000489324,;	uc001fki.2	c.141C>T	-/3403	2	2			c.141C>T						1	SNP	c.(139-141)TAC>TAT	36	36				0	Broad	hypothetical protein LOC284618			155291139		0.647	ENSG00000160753	1935	g.chr1:155291139G>A										19.416822	KEEP	5	5	-1	9	6	5	5	-1	19.934024	9	6	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	A			RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_RNA|RUSC1_uc001fkj.2_Intron|RUSC1_uc001fkk.2_Intron|RUSC1_uc009wqn.1_5'Flank|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank	143	GBM-14-1043-TP	p.Y47Y	G	TCCTCTGGGAGTAAGGGGTAG	NM_001039517	NP_001034606	155291139	Q66K80	RUAS1_HUMAN	0	Epithelial(20;1.32e-10)|all cancers(21;3.51e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		2	418	-	A	A	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Silent	47						
RUSC2	9853	broad.mit.edu	GRCh37	9	35548294	35548294	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0185-01	TCGA-06-0185-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000455600.1:c.1776C>A	p.Cys592Ter	p.C592*	ENST00000455600	NM_001135999.1	592	tgC/tgA	0			1			A	C/*	uc003zww.2	protein_coding		CCDS35008.1			1776/4551									ovary(1)	1	c.(1774-1776)TGC>TGA			hmmpanther:PTHR15591,hmmpanther:PTHR15591:SF14	RUN and SH3 domain containing 2				ENSP00000355177		12-Feb									COSM2150493	12-Feb	.		ENST00000361226	Transcript				cytosol		ENSG00000198853	g.chr9:35548294C>A	23625			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,9,35548294,C,A&fts=all	C592*	--	--	1																																		RUSC2_uc010mkq.2_Intron|RUSC2_uc003zwx.3_Nonsense_Mutation_p.C592*	1				p.C592*	NM_014806	NP_055621			1	RUSC2_HUMAN	RUSC2	HGNC	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)				2	2031	+			UPI00001C1EB0	592					SNV	RUSC2,stop_gained,p.Cys592Ter,ENST00000455600,NM_001135999.1;RUSC2,stop_gained,p.Cys592Ter,ENST00000361226,NM_014806.2;RUSC2,downstream_gene_variant,,ENST00000468041,;	uc003zww.2	c.1776C>A	1914/5199	5	2			c.1776C>A						9	SNP	c.(1774-1776)TGC>TGA	26	26			ovary(1)	1	Broad	RUN and SH3 domain containing 2			35548294		0.637	ENSG00000198853	13531	g.chr9:35548294C>A		cytosol								91.872319	KEEP	15	26	0.634146341	27	18	15	26	0.634146341	91.902455	27	18	0.477612	1	0	0	0	0	0	1	0	0	--	--		0	A			RUSC2_uc010mkq.2_Intron|RUSC2_uc003zwx.3_Nonsense_Mutation_p.C592*	40	GBM-06-0185-TP	p.C592*	C	AGGGCACTTGCTGTAGCCATA	NM_014806	NP_055621	35548294	Q8N2Y8	RUSC2_HUMAN	0	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		2	2031	+	A	A			Nonsense_Mutation	592						
RUSC2	9853	broad.mit.edu	GRCh37	9	35560384	35560384	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0875-01	TCGA-06-0875-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000455600.1:c.3747G>T	p.Glu1249Asp	p.E1249D	ENST00000455600	NM_001135999.1	1249	gaG/gaT	0			1			T	E/D	uc003zww.2	protein_coding		CCDS35008.1			3747/4551									ovary(1)	1	c.(3745-3747)GAG>GAT			hmmpanther:PTHR15591,hmmpanther:PTHR15591:SF14,Low_complexity_(Seg):seg	RUN and SH3 domain containing 2				ENSP00000355177		12-Oct									COSM2151987	12-Oct	.		ENST00000361226	Transcript				cytosol		ENSG00000198853	g.chr9:35560384G>T	23625			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=RUSC2_HUMAN&rb=1175&re=1374&var=E1249D	NA	getma.org/?cm=var&var=hg19,9,35560384,G,T&fts=all	E1249D	--	--	1																																		RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.E1249D	1			benign(0.137)	p.E1249D	NM_014806	NP_055621		tolerated(0.36)	1	RUSC2_HUMAN	RUSC2	HGNC	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)				10	4002	+			UPI00001C1EB0	1249			Poly-Glu.		SNV	RUSC2,missense_variant,p.Glu1249Asp,ENST00000455600,NM_001135999.1;RUSC2,missense_variant,p.Glu1249Asp,ENST00000361226,NM_014806.2;FAM166B,downstream_gene_variant,,ENST00000399742,NM_001164310.1,NM_001099951.2;FAM166B,downstream_gene_variant,,ENST00000492890,;FAM166B,downstream_gene_variant,,ENST00000480287,;FAM166B,downstream_gene_variant,,ENST00000478246,;FAM166B,downstream_gene_variant,,ENST00000447837,NM_001287239.1;	uc003zww.2	c.3747G>T	3885/5199	1	1			c.3747G>T						9	SNP	c.(3745-3747)GAG>GAT	6	6			ovary(1)	1	Broad	RUN and SH3 domain containing 2			35560384		0.512	ENSG00000198853	13531	g.chr9:35560384G>T		cytosol								76.593441	KEEP	22	28	0.44	25	25	22	28	0.44	76.771606	25	25	0.442623	1	0	0	0	0	1	0	0	0	--	--		0	T			RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.E1249D	71	GBM-06-0875-TP	p.E1249D	G	agacagaagaggtggcagagg	NM_014806	NP_055621	35560384	Q8N2Y8	RUSC2_HUMAN	0	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		10	4002	+	T	T			Missense_Mutation	1249			Poly-Glu.			
RUSC2	0	broad.mit.edu	GRCh37	9	35561054	35561054	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-41-2572-01	TCGA-41-2572-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361226.3:c.4309C>G	p.Gln1437Glu	p.Q1437E	ENST00000361226	NM_014806.2	1437	Cag/Gag	0			1			G	Q/E	uc003zww.2	protein_coding		CCDS35008.1			4309/4551									ovary(1)	1	c.(4309-4311)CAG>GAG			hmmpanther:PTHR15591,hmmpanther:PTHR15591:SF14,Superfamily_domains:SSF50044	RUN and SH3 domain containing 2				ENSP00000355177		12-Nov									COSM3413642	12-Nov	.		ENST00000361226	Transcript				cytosol		ENSG00000198853	g.chr9:35561054C>G	23625			MODERATE		0.145	neutral	getma.org/?cm=msa&ty=f&p=RUSC2_HUMAN&rb=1375&re=1450&var=Q1437E	NA	getma.org/?cm=var&var=hg19,9,35561054,C,G&fts=all	Q1437E	--	--	1																																		RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.Q1437E	1			benign(0.002)	p.Q1437E	NM_014806	NP_055621		tolerated(0.95)	1	RUSC2_HUMAN	RUSC2	HGNC	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)				11	4564	+			UPI00001C1EB0	1437					SNV	RUSC2,missense_variant,p.Gln1437Glu,ENST00000455600,NM_001135999.1;RUSC2,missense_variant,p.Gln1437Glu,ENST00000361226,NM_014806.2;FAM166B,downstream_gene_variant,,ENST00000399742,NM_001164310.1,NM_001099951.2;FAM166B,downstream_gene_variant,,ENST00000492890,;FAM166B,downstream_gene_variant,,ENST00000480287,;FAM166B,downstream_gene_variant,,ENST00000478246,;FAM166B,downstream_gene_variant,,ENST00000447837,NM_001287239.1;	uc003zww.2	c.4309C>G	4447/5199	3	3			c.4309C>G						9	SNP	c.(4309-4311)CAG>GAG	5	5			ovary(1)	1	Broad	RUN and SH3 domain containing 2			35561054		0.657	ENSG00000198853	13531	g.chr9:35561054C>G		cytosol								2.264527	KEEP	0	2	-1	10	18	0	2	-1	6.468042	10	18	0.083333	1	0	0	0	0	1	0	0	0	--	--		0	G			RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.Q1437E	251	GBM-41-2572-TP	p.Q1437E	C	GGAGAGCCTGCAGGAGCCACA	NM_014806	NP_055621	35561054	Q8N2Y8	RUSC2_HUMAN	0	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		11	4564	+	G	G			Missense_Mutation	1437						
RUVBL1	0	broad.mit.edu	GRCh37	3	127806571	127806571	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-6450-01	TCGA-28-6450-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322623.5:c.1097A>G	p.Tyr366Cys	p.Y366C	ENST00000322623	NM_003707.2	366	tAt/tGt	0			1			C	Y/C	uc003ekh.2	protein_coding	YES	CCDS3047.1			1097/1371									skin(1)	1	c.(1096-1098)TAT>TGT			Gene3D:1.10.8.60,Pfam_domain:PF06068,hmmpanther:PTHR11093,Superfamily_domains:SSF52540	RuvB-like 1				ENSP00000318297		11-Sep									COSM3408202	11-Sep	.		ENST00000322623	Transcript			cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding	ENSG00000175792	g.chr3:127806571T>C	10474			MODERATE		4.13	high	getma.org/?cm=msa&ty=f&p=RUVB1_HUMAN&rb=14&re=416&var=Y366C	getma.org/pdb.php?prot=RUVB1_HUMAN&from=14&to=416&var=Y366C	getma.org/?cm=var&var=hg19,3,127806571,T,C&fts=all	Y366C	--	--	1																																		RUVBL1_uc003eke.2_Intron|RUVBL1_uc003ekf.2_Missense_Mutation_p.Y306C|RUVBL1_uc010hss.2_Missense_Mutation_p.Y366C	1	1		probably_damaging(1)	p.Y366C	NM_003707	NP_003698		deleterious(0)	1	RUVB1_HUMAN	RUVBL1	HGNC	Q9Y265	RUVB1_HUMAN		GBM - Glioblastoma multiforme(114;0.181)	J3QLR1_HUMAN		9	1201	-			UPI0000044739	366					SNV	RUVBL1,missense_variant,p.Tyr306Cys,ENST00000464873,;RUVBL1,missense_variant,p.Tyr366Cys,ENST00000322623,NM_003707.2;RUVBL1,missense_variant,p.Tyr366Cys,ENST00000417360,;RUVBL1,missense_variant,p.Tyr177Cys,ENST00000478892,;RUVBL1,intron_variant,,ENST00000472125,;RUVBL1,non_coding_transcript_exon_variant,,ENST00000480616,;RUVBL1,non_coding_transcript_exon_variant,,ENST00000478243,;RUVBL1,missense_variant,p.Tyr93Cys,ENST00000585057,;RUVBL1,upstream_gene_variant,,ENST00000582176,;	uc003ekh.2	c.1097A>G	1197/1761	3	3			c.1097A>G						3	SNP	c.(1096-1098)TAT>TGT	52	52			skin(1)	1	Broad	RuvB-like 1			127806571		0.453	ENSG00000175792	13532	g.chr3:127806571T>C	cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding							120.967817	KEEP	17	22	-1	27	16	17	22	-1	121.105897	27	16	0.453333	1	0	0	0	0	1	0	0	0	--	--		0	C			RUVBL1_uc003eke.2_Intron|RUVBL1_uc003ekf.2_Missense_Mutation_p.Y306C|RUVBL1_uc010hss.2_Missense_Mutation_p.Y366C	227	GBM-28-6450-TP	p.Y366C	T	CTGTGGAGTATACAGCATGGT	NM_003707	NP_003698	127806571	Q9Y265	RUVB1_HUMAN	0		GBM - Glioblastoma multiforme(114;0.181)	9	1201	-	C	C			Missense_Mutation	366						
RUVBL2	10856	broad.mit.edu	GRCh37	19	49507675	49507675	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000595090.1:c.265G>A	p.Gly89Ser	p.G89S	ENST00000595090	NM_006666.1	89	Ggc/Agc	0			1			A	G/S	uc002plr.1	protein_coding	YES	CCDS42588.1			265/1392										0	c.(265-267)GGC>AGC			Gene3D:3.40.50.300,Pfam_domain:PF06068,Prints_domain:PR01874,hmmpanther:PTHR11093,SMART_domains:SM00382,Superfamily_domains:SSF52540	RuvB-like 2				ENSP00000473172		15-Apr									COSM2152149	15-Apr	.		ENST00000595090	Transcript			cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding	ENSG00000183207	g.chr19:49507675G>A	10475			MODERATE		3.5	medium	getma.org/?cm=msa&ty=f&p=RUVB2_HUMAN&rb=21&re=412&var=G89S	getma.org/pdb.php?prot=RUVB2_HUMAN&from=21&to=412&var=G89S	getma.org/?cm=var&var=hg19,19,49507675,G,A&fts=all	G89S	--	--	1																																		RUVBL2_uc002plq.1_Missense_Mutation_p.G44S|RUVBL2_uc010yab.1_Missense_Mutation_p.G89S|RUVBL2_uc002pls.1_RNA|RUVBL2_uc010emn.1_Missense_Mutation_p.G44S|RUVBL2_uc010yac.1_Missense_Mutation_p.G44S	1	1		probably_damaging(0.95)	p.G89S	NM_006666	NP_006657		deleterious(0.01)	1	RUVB2_HUMAN	RUVBL2	HGNC	Q9Y230	RUVB2_HUMAN		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	M0QXI6_HUMAN,B3KQ59_HUMAN		4	278	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	UPI0000044738	89					SNV	RUVBL2,missense_variant,p.Gly44Ser,ENST00000413176,;RUVBL2,missense_variant,p.Gly89Ser,ENST00000595090,NM_006666.1;RUVBL2,missense_variant,p.Gly44Ser,ENST00000601968,;RUVBL2,missense_variant,p.Gly44Ser,ENST00000596837,;RUVBL2,missense_variant,p.Gly89Ser,ENST00000221413,;RUVBL2,splice_region_variant,,ENST00000594338,;RUVBL2,splice_region_variant,,ENST00000596247,;RUVBL2,splice_region_variant,,ENST00000594017,;RUVBL2,splice_region_variant,,ENST00000593570,;RUVBL2,downstream_gene_variant,,ENST00000595811,;	uc002plr.1	c.265G>A	729/2009	2	2			c.265G>A						19	SNP	c.(265-267)GGC>AGC	24	24				0	Broad	RuvB-like 2			49507675		0.468	ENSG00000183207	13533	g.chr19:49507675G>A	cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding							116.1094	KEEP	21	31	-1	59	67	21	31	-1	124.043223	59	67	0.262821	1	0	0	0	0	1	0	0	0	--	--		0	A			RUVBL2_uc002plq.1_Missense_Mutation_p.G44S|RUVBL2_uc010yab.1_Missense_Mutation_p.G89S|RUVBL2_uc002pls.1_RNA|RUVBL2_uc010emn.1_Missense_Mutation_p.G44S|RUVBL2_uc010yac.1_Missense_Mutation_p.G44S	73	GBM-06-0877-TP	p.G89S	G	CATCGCCATGGGTAAGAAACC	NM_006666	NP_006657	49507675	Q9Y230	RUVB2_HUMAN	0		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	4	278	+	A	A		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	Missense_Mutation	89						
RUVBL2	0	broad.mit.edu	GRCh37	19	49510608	49510608	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-32-1991-01	TCGA-32-1991-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000595090.1:c.445C>T	p.Arg149Ter	p.R149*	ENST00000595090	NM_006666.1	149	Cga/Tga	0			1			T	R/*	uc002plr.1	protein_coding	YES	CCDS42588.1			445/1392										0	c.(445-447)CGA>TGA			Gene3D:3.40.50.300,Pfam_domain:PF06068,hmmpanther:PTHR11093,SMART_domains:SM00382,Superfamily_domains:SSF52540	RuvB-like 2				ENSP00000473172		15-Jun									COSM3404436	15-Jun	.		ENST00000595090	Transcript			cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding	ENSG00000183207	g.chr19:49510608C>T	10475			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,19,49510608,C,T&fts=all	R149*	--	--	1																																		RUVBL2_uc002plq.1_Nonsense_Mutation_p.R104*|RUVBL2_uc010yab.1_Nonsense_Mutation_p.R149*|RUVBL2_uc002pls.1_RNA|RUVBL2_uc010emn.1_Nonsense_Mutation_p.R104*|RUVBL2_uc010yac.1_Nonsense_Mutation_p.R104*	1	1			p.R149*	NM_006666	NP_006657			1	RUVB2_HUMAN	RUVBL2	HGNC	Q9Y230	RUVB2_HUMAN		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	M0QXI6_HUMAN,B3KQ59_HUMAN		6	458	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	UPI0000044738	149					SNV	RUVBL2,stop_gained,p.Arg104Ter,ENST00000413176,;RUVBL2,stop_gained,p.Arg149Ter,ENST00000595090,NM_006666.1;RUVBL2,stop_gained,p.Arg104Ter,ENST00000601968,;RUVBL2,stop_gained,p.Arg104Ter,ENST00000596837,;RUVBL2,stop_gained,p.Arg149Ter,ENST00000221413,;RUVBL2,3_prime_UTR_variant,,ENST00000596247,;RUVBL2,3_prime_UTR_variant,,ENST00000593570,;RUVBL2,non_coding_transcript_exon_variant,,ENST00000594338,;RUVBL2,non_coding_transcript_exon_variant,,ENST00000594017,;RUVBL2,downstream_gene_variant,,ENST00000595811,;	uc002plr.1	c.445C>T	909/2009	5	2			c.445C>T						19	SNP	c.(445-447)CGA>TGA	46	46				0	Broad	RuvB-like 2			49510608		0.587	ENSG00000183207	13533	g.chr19:49510608C>T	cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding							177.150934	KEEP	27	40	-1	46	52	27	40	-1	177.954858	46	52	0.41844	1	0	0	0	0	0	1	0	0	--	--		0	T			RUVBL2_uc002plq.1_Nonsense_Mutation_p.R104*|RUVBL2_uc010yab.1_Nonsense_Mutation_p.R149*|RUVBL2_uc002pls.1_RNA|RUVBL2_uc010emn.1_Nonsense_Mutation_p.R104*|RUVBL2_uc010yac.1_Nonsense_Mutation_p.R104*	234	GBM-32-1991-TP	p.R149*	C	CCAGATTGATCGACCAGCAAC	NM_006666	NP_006657	49510608	Q9Y230	RUVB2_HUMAN	0		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	6	458	+	T	T		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	Nonsense_Mutation	149						
RXFP1	0	broad.mit.edu	GRCh37	4	159538309	159538309	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01	TCGA-26-5135-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307765.5:c.707G>A	p.Arg236His	p.R236H	ENST00000307765	NM_001253728.1	236	cGt/cAt	0	A:0.0003		1			A	R/H	uc003ipz.2	protein_coding	YES	CCDS43276.1			707/2274										0	c.(706-708)CGT>CAT			PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF18,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	relaxin/insulin-like family peptide receptor 1			A:0	ENSP00000303248		18-Sep	2.48E-05	0.000204				1.50E-05			rs368431235,COSM2157072	18-Sep	.		ENST00000307765	Transcript				integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	ENSG00000171509	g.chr4:159538309G>A	19718			MODERATE		0.135	neutral	getma.org/?cm=msa&ty=f&p=RXFP1_HUMAN&rb=205&re=276&var=R236H	getma.org/pdb.php?prot=RXFP1_HUMAN&from=235&to=246&var=R236H	getma.org/?cm=var&var=hg19,4,159538309,G,A&fts=all	R236H	--	--	1																																		RXFP1_uc010iqj.1_Missense_Mutation_p.R65H|RXFP1_uc011cja.1_Missense_Mutation_p.R155H|RXFP1_uc010iqo.2_Missense_Mutation_p.R236H|RXFP1_uc011cjb.1_Missense_Mutation_p.R182H|RXFP1_uc010iqk.2_Missense_Mutation_p.R104H|RXFP1_uc011cjc.1_Missense_Mutation_p.R155H|RXFP1_uc011cjd.1_Missense_Mutation_p.R155H|RXFP1_uc010iql.2_Missense_Mutation_p.R104H|RXFP1_uc011cje.1_Missense_Mutation_p.R263H|RXFP1_uc010iqm.2_Missense_Mutation_p.R203H|RXFP1_uc011cjf.1_Missense_Mutation_p.R106H|RXFP1_uc010iqn.2_Missense_Mutation_p.R182H	0,1	1		benign(0.001)	p.R236H	NM_021634	NP_067647		tolerated(0.59)	0,1	RXFP1_HUMAN	RXFP1	HGNC	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	Q4W5D9_HUMAN,E9PCA3_HUMAN		9	789	+	all_hematologic(180;0.24)	Renal(120;0.0854)	UPI000013EC4B	236			Extracellular (Potential).|LRR 4.		SNV	RXFP1,missense_variant,p.Arg236His,ENST00000307765,NM_001253728.1,NM_001253730.1,NM_001253733.1,NM_001253732.1,NM_021634.3,NM_001253727.1;RXFP1,missense_variant,p.Arg155His,ENST00000448688,;RXFP1,missense_variant,p.Arg155His,ENST00000460056,;RXFP1,missense_variant,p.Arg203His,ENST00000470033,;RXFP1,missense_variant,p.Arg236His,ENST00000343542,NM_001253729.1;RXFP1,3_prime_UTR_variant,,ENST00000342048,;RXFP1,3_prime_UTR_variant,,ENST00000471616,;	uc003ipz.2	c.707G>A	958/3842	2	2			c.707G>A						4	SNP	c.(706-708)CGT>CAT	42	42				0	Broad	relaxin/insulin-like family peptide receptor 1			159538309		0.363	ENSG00000171509	13539	g.chr4:159538309G>A		integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding							270.663947	KEEP	56	55	-1	57	81	56	55	-1	271.176626	57	81	0.446602	1	0	0	0	0	1	0	0	0	--	--		0	A			RXFP1_uc010iqj.1_Missense_Mutation_p.R65H|RXFP1_uc011cja.1_Missense_Mutation_p.R155H|RXFP1_uc010iqo.2_Missense_Mutation_p.R236H|RXFP1_uc011cjb.1_Missense_Mutation_p.R182H|RXFP1_uc010iqk.2_Missense_Mutation_p.R104H|RXFP1_uc011cjc.1_Missense_Mutation_p.R155H|RXFP1_uc011cjd.1_Missense_Mutation_p.R155H|RXFP1_uc010iql.2_Missense_Mutation_p.R104H|RXFP1_uc011cje.1_Missense_Mutation_p.R263H|RXFP1_uc010iqm.2_Missense_Mutation_p.R203H|RXFP1_uc011cjf.1_Missense_Mutation_p.R106H|RXFP1_uc010iqn.2_Missense_Mutation_p.R182H	184	GBM-26-5135-TP	p.R236H	G	GTCCTCACCCGTTTACCTGAT	NM_021634	NP_067647	159538309	Q9HBX9	RXFP1_HUMAN	0		COAD - Colon adenocarcinoma(41;0.0219)	9	789	+	A	A	all_hematologic(180;0.24)	Renal(120;0.0854)	Missense_Mutation	236			Extracellular (Potential).|LRR 4.			
RXFP1	0	broad.mit.edu	GRCh37	4	159554592	159554592	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6191-01	TCGA-76-6191-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307765.5:c.935C>T	p.Pro312Leu	p.P312L	ENST00000307765	NM_001253728.1	312	cCg/cTg	0	T:0		1			T	P/L	uc003ipz.2	protein_coding	YES	CCDS43276.1			935/2274										0	c.(934-936)CCG>CTG			PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF18,Gene3D:3.80.10.10,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52058	relaxin/insulin-like family peptide receptor 1			T:0.0002	ENSP00000303248		18-Dec	2.48E-05					4.51E-05			rs200427299	18-Dec	.		ENST00000307765	Transcript				integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	ENSG00000171509	g.chr4:159554592C>T	19718			MODERATE		2.155	medium	getma.org/?cm=msa&ty=f&p=RXFP1_HUMAN&rb=308&re=421&var=P312L	getma.org/pdb.php?prot=RXFP1_HUMAN&from=308&to=421&var=P312L	getma.org/?cm=var&var=hg19,4,159554592,C,T&fts=all	P312L	--	--	1																																		RXFP1_uc010iqj.1_Missense_Mutation_p.P141L|RXFP1_uc011cja.1_Missense_Mutation_p.P207L|RXFP1_uc010iqo.2_Intron|RXFP1_uc011cjb.1_Intron|RXFP1_uc010iqk.2_Missense_Mutation_p.P180L|RXFP1_uc011cjc.1_Missense_Mutation_p.P231L|RXFP1_uc011cjd.1_Missense_Mutation_p.P231L|RXFP1_uc010iql.2_Missense_Mutation_p.P156L|RXFP1_uc011cje.1_Missense_Mutation_p.P339L|RXFP1_uc010iqm.2_Missense_Mutation_p.P279L|RXFP1_uc011cjf.1_Missense_Mutation_p.P182L|RXFP1_uc010iqn.2_Missense_Mutation_p.P258L		1		benign(0.004)	p.P312L	NM_021634	NP_067647		deleterious(0.03)		RXFP1_HUMAN	RXFP1	HGNC	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	Q4W5D9_HUMAN,E9PCA3_HUMAN		12	1017	+	all_hematologic(180;0.24)	Renal(120;0.0854)	UPI000013EC4B	312			Extracellular (Potential).|LRR 7.		SNV	RXFP1,missense_variant,p.Pro312Leu,ENST00000307765,NM_001253728.1,NM_001253730.1,NM_001253733.1,NM_001253732.1,NM_021634.3,NM_001253727.1;RXFP1,missense_variant,p.Pro207Leu,ENST00000448688,;RXFP1,missense_variant,p.Pro231Leu,ENST00000460056,;RXFP1,missense_variant,p.Pro279Leu,ENST00000470033,;RXFP1,intron_variant,,ENST00000343542,NM_001253729.1;RXFP1,3_prime_UTR_variant,,ENST00000342048,;RXFP1,3_prime_UTR_variant,,ENST00000471616,;	uc003ipz.2	c.935C>T	1186/3842	2	2			c.935C>T						4	SNP	c.(934-936)CCG>CTG	48	48				0	Broad	relaxin/insulin-like family peptide receptor 1			159554592		0.284	ENSG00000171509	13539	g.chr4:159554592C>T		integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding							78.057751	KEEP	14	16	-1	28	29	14	16	-1	79.425506	28	29	0.352113	1	0	0	0	0	1	0	0	0	--	--		0	T			RXFP1_uc010iqj.1_Missense_Mutation_p.P141L|RXFP1_uc011cja.1_Missense_Mutation_p.P207L|RXFP1_uc010iqo.2_Intron|RXFP1_uc011cjb.1_Intron|RXFP1_uc010iqk.2_Missense_Mutation_p.P180L|RXFP1_uc011cjc.1_Missense_Mutation_p.P231L|RXFP1_uc011cjd.1_Missense_Mutation_p.P231L|RXFP1_uc010iql.2_Missense_Mutation_p.P156L|RXFP1_uc011cje.1_Missense_Mutation_p.P339L|RXFP1_uc010iqm.2_Missense_Mutation_p.P279L|RXFP1_uc011cjf.1_Missense_Mutation_p.P182L|RXFP1_uc010iqn.2_Missense_Mutation_p.P258L	274	GBM-76-6191-TP	p.P312L	C	AATCTTCCACCGCTTATATTC	NM_021634	NP_067647	159554592	Q9HBX9	RXFP1_HUMAN	0		COAD - Colon adenocarcinoma(41;0.0219)	12	1017	+	T	T	all_hematologic(180;0.24)	Renal(120;0.0854)	Missense_Mutation	312			Extracellular (Potential).|LRR 7.			
RXFP2	122042	broad.mit.edu	GRCh37	13	32360537	32360537	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01	TCGA-02-2486-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298386.2:c.947C>T	p.Thr316Met	p.T316M	ENST00000298386	NM_130806.3	316	aCg/aTg	0			1			T	T/M	uc001utt.2	protein_coding	YES	CCDS9342.1			947/2265										0	c.(946-948)ACG>ATG			PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF226,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,Superfamily_domains:SSF52058	relaxin/insulin-like family peptide receptor 2				ENSP00000298386		18-Dec									COSM3399334	18-Dec	.		ENST00000298386	Transcript	1			integral to membrane|plasma membrane		ENSG00000133105	g.chr13:32360537C>T	17318			MODERATE		-0.06	neutral	getma.org/?cm=msa&ty=f&p=RXFP2_HUMAN&rb=281&re=341&var=T316M	getma.org/pdb.php?prot=RXFP2_HUMAN&from=281&to=341&var=T316M	getma.org/?cm=var&var=hg19,13,32360537,C,T&fts=all	T316M	--	--	1																																		RXFP2_uc010aba.2_Missense_Mutation_p.T275M	1	1		benign(0)	p.T316M	NM_130806	NP_570718		tolerated(0.51)	1	RXFP2_HUMAN	RXFP2	HGNC	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)			12	1018	+		Lung SC(185;0.0262)	UPI0000049589	316			Extracellular (Potential).|LRR 8.		SNV	RXFP2,missense_variant,p.Thr316Met,ENST00000298386,NM_130806.3;RXFP2,missense_variant,p.Thr292Met,ENST00000380314,NM_001166058.1;	uc001utt.2	c.947C>T	1018/2803	2	2			c.947C>T						13	SNP	c.(946-948)ACG>ATG	25	25				0	Broad	relaxin/insulin-like family peptide receptor 2			32360537		0.358	ENSG00000133105	13540	g.chr13:32360537C>T		integral to membrane|plasma membrane								147.947542	KEEP	26	31	-1	42	45	26	31	-1	149.140843	42	45	0.395161	1	0	0	0	0	1	0	0	0	--	--		0	T			RXFP2_uc010aba.2_Missense_Mutation_p.T275M	8	GBM-02-2486-TP	p.T316M	C	TCTAGCAATACGATAACGGAA	NM_130806	NP_570718	32360537	Q8WXD0	RXFP2_HUMAN	0		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	12	1018	+	T	T		Lung SC(185;0.0262)	Missense_Mutation	316			Extracellular (Potential).|LRR 8.			
RXFP4	0	broad.mit.edu	GRCh37	1	155911855	155911855	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-32-4213-01	TCGA-32-4213-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368318.3:c.355A>C	p.Thr119Pro	p.T119P	ENST00000368318	NM_181885.2	119	Acg/Ccg	0			1			C	T/P	uc010pgs.1	protein_coding	YES	CCDS1124.1			355/1125										0	c.(355-357)ACG>CCG			PROSITE_profiles:PS50262,hmmpanther:PTHR24230:SF32,hmmpanther:PTHR24230,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	relaxin 3 receptor 2				ENSP00000357301		1-Jan									COSM3747792	1-Jan	.		ENST00000368318	Transcript				integral to membrane|plasma membrane	angiotensin type II receptor activity	ENSG00000173080	g.chr1:155911855A>C	14666			MODERATE		2.535	medium	getma.org/?cm=msa&ty=f&p=RL3R2_HUMAN&rb=56&re=309&var=T119P	getma.org/pdb.php?prot=RL3R2_HUMAN&from=56&to=309&var=T119P	getma.org/?cm=var&var=hg19,1,155911855,A,C&fts=all	T119P	--	--	1																																			1	1		probably_damaging(0.997)	p.T119P	NM_181885	NP_871001		deleterious(0.01)	1	RL3R2_HUMAN	RXFP4	HGNC	Q8TDU9	RL3R2_HUMAN					1	376	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		UPI0000048F6E	119			Helical; Name=3; (Potential).		SNV	RXFP4,missense_variant,p.Thr119Pro,ENST00000368318,NM_181885.2;ARHGEF2,downstream_gene_variant,,ENST00000462460,;ARHGEF2,downstream_gene_variant,,ENST00000368316,;ARHGEF2,downstream_gene_variant,,ENST00000361247,NM_001162384.1,NM_001162383.1;ARHGEF2,downstream_gene_variant,,ENST00000313695,NM_004723.3;ARHGEF2,downstream_gene_variant,,ENST00000368315,;ARHGEF2,downstream_gene_variant,,ENST00000470541,;ARHGEF2,downstream_gene_variant,,ENST00000477754,;	uc010pgs.1	c.355A>C	376/1146	3	3			c.355A>C						1	SNP	c.(355-357)ACG>CCG	50	50				0	Broad	relaxin 3 receptor 2			155911855		0.632	ENSG00000173080	13542	g.chr1:155911855A>C		integral to membrane|plasma membrane	angiotensin type II receptor activity							-17.086217	KEEP	4	4	-1	56	67	4	4	-1	6.427874	56	67	0.039216	1	0	0	0	0	1	0	0	0	--	--		0	C				247	GBM-32-4213-TP	p.T119P	A	GATGGTTCTGACGGCCACTGT	NM_181885	NP_871001	155911855	Q8TDU9	RL3R2_HUMAN	0			1	376	+	C	C	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		Missense_Mutation	119			Helical; Name=3; (Potential).			
RXRA	6256	broad.mit.edu	GRCh37	9	137309139	137309139	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0649-01	TCGA-06-0649-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000481739.1:c.746A>T	p.Tyr249Phe	p.Y249F	ENST00000481739	NM_002957.4	249	tAc/tTc	0			1			T	Y/F	uc004cfb.2	protein_coding	YES	CCDS35172.1			746/1389									upper_aerodigestive_tract(1)|ovary(1)	2	c.(745-747)TAC>TTC			Superfamily_domains:SSF48508,Gene3D:1.10.565.10,hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF39	retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)			ENSP00000419692		10-May									COSM2151536	10-May	.		ENST00000481739	Transcript			cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	ENSG00000186350	g.chr9:137309139A>T	10477			MODERATE		1.71	low	getma.org/?cm=msa&ty=f&p=RXRA_HUMAN&rb=203&re=250&var=Y249F	getma.org/pdb.php?prot=RXRA_HUMAN&from=203&to=250&var=Y249F	getma.org/?cm=var&var=hg19,9,137309139,A,T&fts=all	Y249F	--	--	1																																		RXRA_uc004cfc.1_Missense_Mutation_p.Y152F|RXRA_uc004cfd.1_Missense_Mutation_p.Y20F	1	1		benign(0.265)	p.Y249F	NM_002957	NP_002948		tolerated(0.27)	1	RXRA_HUMAN	RXRA	HGNC	P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Q6P3U7_HUMAN,F1D8Q5_HUMAN,B3KY83_HUMAN		5	908	+			UPI0000042A9A	249			Ligand-binding.		SNV	RXRA,missense_variant,p.Tyr152Phe,ENST00000540193,;RXRA,missense_variant,p.Tyr249Phe,ENST00000481739,NM_002957.4;RXRA,non_coding_transcript_exon_variant,,ENST00000356384,;	uc004cfb.2	c.746A>T	798/1846	2	2			c.746A>T						9	SNP	c.(745-747)TAC>TTC	22	22			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	retinoid X receptor, alpha		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	137309139		0.622	ENSG00000186350	13543	g.chr9:137309139A>T	cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			303			303	63.769136	KEEP	17	10	-1	24	20	17	10	-1	64.52334	24	20	0.384615	1	0	0	0	0	1	0	0	0	--	--		0	T			RXRA_uc004cfc.1_Missense_Mutation_p.Y152F|RXRA_uc004cfd.1_Missense_Mutation_p.Y20F	62	GBM-06-0649-TP	p.Y249F	A	ACCGAGACCTACGTGGAGGCA	NM_002957	NP_002948	137309139	P19793	RXRA_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	5	908	+	T	T			Missense_Mutation	249			Ligand-binding.			
RXRA	6256		GRCh37	9	137309042	137309042	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000481739.1:c.649G>T	p.Glu217Ter	p.E217*	ENST00000481739	NM_002957.4	217	Gag/Tag	0																																																																																																																																																																																																																																												
RYBP	0	broad.mit.edu	GRCh37	3	72427619	72427619	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000477973.2:c.869G>A	p.Gly291Arg	p.G291R	ENST00000477973	NM_012234.5	291	Ggg/Agg	0			1			T	G/R	uc003dpe.2	protein_coding	YES				871/954										0	c.(574-576)GGG>AGG			Low_complexity_(Seg):seg,hmmpanther:PTHR12920,hmmpanther:PTHR12920:SF3	RING1 and YY1 binding protein				ENSP00000419494		4-Apr										4-Apr	.		ENST00000477973	Transcript			apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	ENSG00000163602	g.chr3:72427619C>T	10480			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=RYBP_HUMAN&rb=49&re=228&var=G202R	NA	getma.org/?cm=var&var=hg19,3,72427619,C,T&fts=all	G202R	--	--	1																																				1		probably_damaging(0.991)	p.G192R	NM_012234	NP_036366		deleterious(0)		RYBP_HUMAN	RYBP	HGNC	Q8N488	RYBP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)			4	691	-		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)	UPI0001B794AD	202			Interaction with E4TF1B.|Ser-rich.		SNV	RYBP,missense_variant,p.Gly291Arg,ENST00000477973,NM_012234.5;	uc003dpe.2	c.574G>A	869/7512	1	1			c.574G>A						3	SNP	c.(574-576)GGG>AGG	2	2				0	Broad	RING1 and YY1 binding protein			72427619		0.512	ENSG00000163602	13546	g.chr3:72427619C>T	apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding							34.384236	KEEP	8	4	-1	17	15	8	4	-1	36.113825	17	15	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	T				129	GBM-12-5295-TP	p.G192R	C	CTCTCTGACCCCGAGCTGCTC	NM_012234	NP_036366	72427619	Q8N488	RYBP_HUMAN	0		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)	4	691	-	T	T		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)	Missense_Mutation	202			Interaction with E4TF1B.|Ser-rich.			
RYR1	6261	broad.mit.edu	GRCh37	19	38958338	38958338	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0174-01	TCGA-06-0174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359596.3:c.3267C>T	p.Phe1089=	p.F1089=	ENST00000359596		1089	ttC/ttT	0			1			T	F	uc002oit.2	protein_coding	YES	CCDS33011.1			3267/15117									ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	c.(3265-3267)TTC>TTT			Pfam_domain:PF00622,PROSITE_profiles:PS50188,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF15,SMART_domains:SM00449,Superfamily_domains:SSF49899	skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)			ENSP00000352608		25/106									COSM3404186	25/106	.		ENST00000359596	Transcript	1		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	ENSG00000196218	g.chr19:38958338C>T	10483			LOW								--	--	1																																		RYR1_uc002oiu.2_Silent_p.F1089F	1	1			p.F1089F	NM_000540	NP_000531			1	RYR1_HUMAN	RYR1	HGNC	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		O75591_HUMAN,B4DET7_HUMAN		25	3397	+	all_cancers(60;7.91e-06)		UPI0000D7E62F	1089			6 X approximate repeats.|Cytoplasmic.|B30.2/SPRY 2.		SNV	RYR1,synonymous_variant,p.=,ENST00000355481,NM_000540.2,NM_001042723.1;RYR1,synonymous_variant,p.=,ENST00000360985,;RYR1,synonymous_variant,p.=,ENST00000359596,;RYR1,non_coding_transcript_exon_variant,,ENST00000594111,;	uc002oit.2	c.3267C>T	3267/15117	1	1			c.3267C>T						19	SNP	c.(3265-3267)TTC>TTT	10	10			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	Broad	skeletal muscle ryanodine receptor isoform 1		Dantrolene(DB01219)	38958338		0.592	ENSG00000196218	13548	g.chr19:38958338C>T	muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity							149.328437	KEEP	37	30	-1	96	92	37	30	-1	160.837663	96	92	0.262222	1	0	0	0	0	0	0	1	0	--	--		0	T			RYR1_uc002oiu.2_Silent_p.F1089F	37	GBM-06-0174-TP	p.F1089F	C	GCTGGTACTTCGAGTTTGAAG	NM_000540	NP_000531	38958338	P21817	RYR1_HUMAN	0	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		25	3397	+	T	T	all_cancers(60;7.91e-06)		Silent	1089			6 X approximate repeats.|Cytoplasmic.|B30.2/SPRY 2.			
RYR1	6261	broad.mit.edu	GRCh37	19	38964245	38964245	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0210-01	TCGA-06-0210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359596.3:c.3994G>A	p.Glu1332Lys	p.E1332K	ENST00000359596		1332	Gaa/Aaa	0			1			A	E/K	uc002oit.2	protein_coding	YES	CCDS33011.1			3994/15117									ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	c.(3994-3996)GAA>AAA			hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF15,Low_complexity_(Seg):seg	skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)			ENSP00000352608		28/106									COSM1393390	28/106	.		ENST00000359596	Transcript	1		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	ENSG00000196218	g.chr19:38964245G>A	10483			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=RYR1_HUMAN&rb=1208&re=1407&var=E1332K	NA	getma.org/?cm=var&var=hg19,19,38964245,G,A&fts=all	E1332K	--	--	1																																		RYR1_uc002oiu.2_Missense_Mutation_p.E1332K	1	1		benign(0.215)	p.E1332K	NM_000540	NP_000531			1	RYR1_HUMAN	RYR1	HGNC	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		O75591_HUMAN,B4DET7_HUMAN		28	4124	+	all_cancers(60;7.91e-06)		UPI0000D7E62F	1332			Cytoplasmic.|6 X approximate repeats.		SNV	RYR1,missense_variant,p.Glu1332Lys,ENST00000355481,NM_000540.2,NM_001042723.1;RYR1,missense_variant,p.Glu1332Lys,ENST00000360985,;RYR1,missense_variant,p.Glu1332Lys,ENST00000359596,;	uc002oit.2	c.3994G>A	3994/15117	2	2			c.3994G>A						19	SNP	c.(3994-3996)GAA>AAA	18	18			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	Broad	skeletal muscle ryanodine receptor isoform 1		Dantrolene(DB01219)	38964245		0.746	ENSG00000196218	13548	g.chr19:38964245G>A	muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity							20.320642	KEEP	3	4	-1	6	12	3	4	-1	20.51542	6	12	0.388889	1	0	0	0	0	1	0	0	0	--	--		0	A			RYR1_uc002oiu.2_Missense_Mutation_p.E1332K	47	GBM-06-0210-TP	p.E1332K	G	CCCTGACTACGAAAACCTGCG	NM_000540	NP_000531	38964245	P21817	RYR1_HUMAN	0	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		28	4124	+	A	A	all_cancers(60;7.91e-06)		Missense_Mutation	1332			Cytoplasmic.|6 X approximate repeats.			
RYR1	6261	broad.mit.edu	GRCh37	19	39076773	39076773	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0210-01	TCGA-06-0210-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359596.3:c.14911A>G	p.Thr4971Ala	p.T4971A	ENST00000359596		4971	Acg/Gcg	0			1			G	T/A	uc002oit.2	protein_coding	YES	CCDS33011.1			14911/15117									ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	c.(14911-14913)ACG>GCG			hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF15	skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)			ENSP00000352608		104/106	1.65E-05					1.50E-05		6.06E-05	rs756040490,COSM3404193	104/106	.		ENST00000359596	Transcript	1		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	ENSG00000196218	g.chr19:39076773A>G	10483			MODERATE		0.075	neutral	getma.org/?cm=msa&ty=f&p=RYR1_HUMAN&rb=4938&re=5038&var=T4971A	NA	getma.org/?cm=var&var=hg19,19,39076773,A,G&fts=all	T4971A	--	--	1																																		RYR1_uc002oiu.2_Missense_Mutation_p.T4966A	0,1	1		unknown(0)	p.T4971A	NM_000540	NP_000531			0,1	RYR1_HUMAN	RYR1	HGNC	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		O75591_HUMAN,B4DET7_HUMAN		104	15041	+	all_cancers(60;7.91e-06)		UPI0000D7E62F	4971					SNV	RYR1,missense_variant,p.Thr4966Ala,ENST00000355481,NM_000540.2,NM_001042723.1;RYR1,missense_variant,p.Thr4966Ala,ENST00000360985,;RYR1,missense_variant,p.Thr4971Ala,ENST00000359596,;MAP4K1,downstream_gene_variant,,ENST00000591517,NM_007181.4;MAP4K1,downstream_gene_variant,,ENST00000589130,;MAP4K1,downstream_gene_variant,,ENST00000396857,NM_001042600.1;MAP4K1,downstream_gene_variant,,ENST00000591921,;MAP4K1,downstream_gene_variant,,ENST00000586296,;MAP4K1,downstream_gene_variant,,ENST00000593196,;MAP4K1,downstream_gene_variant,,ENST00000591210,;	uc002oit.2	c.14911A>G	14911/15117	3	3			c.14911A>G						19	SNP	c.(14911-14913)ACG>GCG	63	63			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	Broad	skeletal muscle ryanodine receptor isoform 1		Dantrolene(DB01219)	39076773		0.557	ENSG00000196218	13548	g.chr19:39076773A>G	muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity							41.928996	KEEP	11	8	-1	47	55	11	8	-1	51.34817	47	55	0.177083	1	0	0	0	0	1	0	0	0	--	--		0	G			RYR1_uc002oiu.2_Missense_Mutation_p.T4966A	47	GBM-06-0210-TP	p.T4971A	A	CTACTTTGATACGACACCGCA	NM_000540	NP_000531	39076773	P21817	RYR1_HUMAN	0	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		104	15041	+	G	G	all_cancers(60;7.91e-06)		Missense_Mutation	4971						
RYR1	0	broad.mit.edu	GRCh37	19	38954119	38954119	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-16-1045-01	TCGA-16-1045-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359596.3:c.2634C>T	p.His878=	p.H878=	ENST00000359596		878	caC/caT	0	T:0.0007	T:0.0015	1	T:0		T	H	uc002oit.2	protein_coding	YES	CCDS33011.1			2634/15117									ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	c.(2632-2634)CAC>CAT			Pfam_domain:PF02026,Prints_domain:PR00795,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF15	skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)	T:0.001	T:0	ENSP00000352608	T:0	21/106	7.41E-05	0.000598	0.000175			1.52E-05			rs202233201,COSM3404185	21/106	common_variant		ENST00000359596	Transcript	1	T:0.0006	muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	ENSG00000196218	g.chr19:38954119C>T	10483			LOW								--	--	1																																		RYR1_uc002oiu.2_Silent_p.H878H	0,1	1			p.H878H	NM_000540	NP_000531	T:0		0,1	RYR1_HUMAN	RYR1	HGNC	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		O75591_HUMAN,B4DET7_HUMAN		21	2764	+	all_cancers(60;7.91e-06)		UPI0000D7E62F	878			1.|Cytoplasmic.|6 X approximate repeats.		SNV	RYR1,synonymous_variant,p.=,ENST00000355481,NM_000540.2,NM_001042723.1;RYR1,synonymous_variant,p.=,ENST00000360985,;RYR1,synonymous_variant,p.=,ENST00000359596,;RYR1,upstream_gene_variant,,ENST00000594111,;	uc002oit.2	c.2634C>T	2634/15117	2	2			c.2634C>T						19	SNP	c.(2632-2634)CAC>CAT	33	33			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	Broad	skeletal muscle ryanodine receptor isoform 1		Dantrolene(DB01219)	38954119		0.662	ENSG00000196218	13548	g.chr19:38954119C>T	muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity							3.236222	KEEP	1	5	-1	20	39	1	5	-1	11.996523	20	39	0.09434	1	0	0	0	0	0	0	1	0	--	--		0	T			RYR1_uc002oiu.2_Silent_p.H878H	157	GBM-16-1045-TP	p.H878H	C	AGAACATCCACGAGCTCTGGG	NM_000540	NP_000531	38954119	P21817	RYR1_HUMAN	0	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		21	2764	+	T	T	all_cancers(60;7.91e-06)		Silent	878			1.|Cytoplasmic.|6 X approximate repeats.			
RYR1	0	broad.mit.edu	GRCh37	19	38990280	38990280	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-27-2527-01	TCGA-27-2527-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359596.3:c.7033A>C	p.Ser2345Arg	p.S2345R	ENST00000359596		2345	Agc/Cgc	0			1			C	S/R	uc002oit.2	protein_coding	YES	CCDS33011.1			7033/15117									ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	c.(7033-7035)AGC>CGC			Pfam_domain:PF01365,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF15	skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)			ENSP00000352608		44/106									COSM3404188	44/106	.		ENST00000359596	Transcript	1		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	ENSG00000196218	g.chr19:38990280A>C	10483			MODERATE		2.085	medium	getma.org/?cm=msa&ty=f&p=RYR1_HUMAN&rb=2157&re=2365&var=S2345R	NA	getma.org/?cm=var&var=hg19,19,38990280,A,C&fts=all	S2345R	--	--	1																																		RYR1_uc002oiu.2_Missense_Mutation_p.S2345R|RYR1_uc002oiv.1_5'UTR	1	1		benign(0.336)	p.S2345R	NM_000540	NP_000531			1	RYR1_HUMAN	RYR1	HGNC	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		O75591_HUMAN,B4DET7_HUMAN		44	7163	+	all_cancers(60;7.91e-06)		UPI0000D7E62F	2345			Cytoplasmic.|6 X approximate repeats.		SNV	RYR1,missense_variant,p.Ser2345Arg,ENST00000355481,NM_000540.2,NM_001042723.1;RYR1,missense_variant,p.Ser2345Arg,ENST00000360985,;RYR1,missense_variant,p.Ser2345Arg,ENST00000359596,;RYR1,missense_variant,p.Ser163Arg,ENST00000594335,;	uc002oit.2	c.7033A>C	7033/15117	3	3			c.7033A>C						19	SNP	c.(7033-7035)AGC>CGC	5	5			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	Broad	skeletal muscle ryanodine receptor isoform 1		Dantrolene(DB01219)	38990280		0.667	ENSG00000196218	13548	g.chr19:38990280A>C	muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity							5.355758	KEEP	3	2	-1	33	31	3	2	-1	13.330237	33	31	0.1	1	0	0	0	0	1	0	0	0	--	--		0	C			RYR1_uc002oiu.2_Missense_Mutation_p.S2345R|RYR1_uc002oiv.1_5'UTR	204	GBM-27-2527-TP	p.S2345R	A	GCCAGGCGAGAGCGTGGAGGA	NM_000540	NP_000531	38990280	P21817	RYR1_HUMAN	0	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		44	7163	+	C	C	all_cancers(60;7.91e-06)		Missense_Mutation	2345			Cytoplasmic.|6 X approximate repeats.			
RYR1	0	broad.mit.edu	GRCh37	19	39051893	39051893	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359596.3:c.12423C>T	p.Asn4141=	p.N4141=	ENST00000359596		4141	aaC/aaT	0			1			T	N	uc002oit.2	protein_coding	YES	CCDS33011.1			12423/15117									ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	c.(12421-12423)AAC>AAT			hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF15	skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)			ENSP00000352608		90/106									COSM3404192	90/106	.		ENST00000359596	Transcript	1		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	ENSG00000196218	g.chr19:39051893C>T	10483			LOW								--	--	1																																		RYR1_uc002oiu.2_Silent_p.N4136N|RYR1_uc002oiv.1_Silent_p.N1050N	1	1			p.N4141N	NM_000540	NP_000531			1	RYR1_HUMAN	RYR1	HGNC	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		O75591_HUMAN,B4DET7_HUMAN		90	12553	+	all_cancers(60;7.91e-06)		UPI0000D7E62F	4141					SNV	RYR1,synonymous_variant,p.=,ENST00000355481,NM_000540.2,NM_001042723.1;RYR1,synonymous_variant,p.=,ENST00000360985,;RYR1,synonymous_variant,p.=,ENST00000359596,;RYR1,3_prime_UTR_variant,,ENST00000594335,;	uc002oit.2	c.12423C>T	12423/15117	1	1			c.12423C>T						19	SNP	c.(12421-12423)AAC>AAT	11	11			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	Broad	skeletal muscle ryanodine receptor isoform 1		Dantrolene(DB01219)	39051893		0.592	ENSG00000196218	13548	g.chr19:39051893C>T	muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity							55.820633	KEEP	7	22	-1	24	48	7	22	-1	58.539764	24	48	0.297297	1	0	0	0	0	0	0	1	0	--	--		0	T			RYR1_uc002oiu.2_Silent_p.N4136N|RYR1_uc002oiv.1_Silent_p.N1050N	230	GBM-32-1979-TP	p.N4141N	C	TCGGCTTCAACGTGGCGGTGC	NM_000540	NP_000531	39051893	P21817	RYR1_HUMAN	0	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		90	12553	+	T	T	all_cancers(60;7.91e-06)		Silent	4141						
RYR1	0	broad.mit.edu	GRCh37	19	38990563	38990563	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2495-01	TCGA-32-2495-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359596.3:c.7230G>A	p.Pro2410=	p.P2410=	ENST00000359596		2410	ccG/ccA	0			1			A	P	uc002oit.2	protein_coding	YES	CCDS33011.1			7230/15117									ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	c.(7228-7230)CCG>CCA			hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF15	skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)			ENSP00000352608		45/106	8.24E-06		8.65E-05						rs776145819,COSM3404189	45/106	.		ENST00000359596	Transcript	1		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	ENSG00000196218	g.chr19:38990563G>A	10483			LOW								--	--	1																																		RYR1_uc002oiu.2_Silent_p.P2410P|RYR1_uc002oiv.1_5'UTR	0,1	1			p.P2410P	NM_000540	NP_000531			0,1	RYR1_HUMAN	RYR1	HGNC	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		O75591_HUMAN,B4DET7_HUMAN		45	7360	+	all_cancers(60;7.91e-06)		UPI0000D7E62F	2410			Cytoplasmic.|6 X approximate repeats.		SNV	RYR1,synonymous_variant,p.=,ENST00000355481,NM_000540.2,NM_001042723.1;RYR1,synonymous_variant,p.=,ENST00000360985,;RYR1,synonymous_variant,p.=,ENST00000359596,;RYR1,synonymous_variant,p.=,ENST00000594335,;	uc002oit.2	c.7230G>A	7230/15117	1	1			c.7230G>A						19	SNP	c.(7228-7230)CCG>CCA	57	57			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	Broad	skeletal muscle ryanodine receptor isoform 1		Dantrolene(DB01219)	38990563		0.632	ENSG00000196218	13548	g.chr19:38990563G>A	muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity							-23.148951	KEEP	4	1	-1	68	100	4	1	-1	9.627199	68	100	0.035714	1	0	0	0	0	0	0	1	0	--	--		0	A			RYR1_uc002oiu.2_Silent_p.P2410P|RYR1_uc002oiv.1_5'UTR	237	GBM-32-2495-TP	p.P2410P	G	GTGAGGAACCGCCTGAAGAAA	NM_000540	NP_000531	38990563	P21817	RYR1_HUMAN	0	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		45	7360	+	A	A	all_cancers(60;7.91e-06)		Silent	2410			Cytoplasmic.|6 X approximate repeats.			
RYR1	0	broad.mit.edu	GRCh37	19	38990276	38990276	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	rs138617219		TCGA-81-5910-01	TCGA-81-5910-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359596.3:c.7029C>T	p.Gly2343=	p.G2343=	ENST00000359596		2343	ggC/ggT	0	T:0	T:0	1	T:0		T	G	uc002oit.2	protein_coding	YES	CCDS33011.1			7029/15117									ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	c.(7027-7029)GGC>GGT			Pfam_domain:PF01365,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF15	skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)	T:0	T:0.0001	ENSP00000352608	T:0	44/106	4.12E-05					1.59E-05		0.000251	rs138617219,COSM996022	44/106	.		ENST00000359596	Transcript	1	T:0.0008	muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	ENSG00000196218	g.chr19:38990276C>T	10483			LOW								--	--	1																																		RYR1_uc002oiu.2_Silent_p.G2343G|RYR1_uc002oiv.1_5'UTR	0,1	1			p.G2343G	NM_000540	NP_000531	T:0.0041		0,1	RYR1_HUMAN	RYR1	HGNC	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		O75591_HUMAN,B4DET7_HUMAN		44	7159	+	all_cancers(60;7.91e-06)		UPI0000D7E62F	2343			Cytoplasmic.|6 X approximate repeats.		SNV	RYR1,splice_region_variant,p.=,ENST00000355481,NM_000540.2,NM_001042723.1;RYR1,splice_region_variant,p.=,ENST00000360985,;RYR1,splice_region_variant,p.=,ENST00000359596,;RYR1,splice_region_variant,p.=,ENST00000594335,;	uc002oit.2	c.7029C>T	7029/15117	2	2			c.7029C>T						19	SNP	c.(7027-7029)GGC>GGT	47	47			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	Broad	skeletal muscle ryanodine receptor isoform 1		Dantrolene(DB01219)	38990276		0.667	ENSG00000196218	13548	g.chr19:38990276C>T	muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity							23.51013	KEEP	6	5	-1	8	12	6	5	-1	24.280189	8	12	0.321429	1	0	0	0	0	0	0	1	0	--	--		0	T			RYR1_uc002oiu.2_Silent_p.G2343G|RYR1_uc002oiv.1_5'UTR	289	GBM-81-5910-TP	p.G2343G	C	GGTGGCCAGGCGAGAGCGTGG	NM_000540	NP_000531	38990276	P21817	RYR1_HUMAN	0	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		44	7159	+	T	T	all_cancers(60;7.91e-06)		Silent	2343			Cytoplasmic.|6 X approximate repeats.			
RYR2	6262	broad.mit.edu	GRCh37	1	237794836	237794836	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-02-0047-01	TCGA-02-0047-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366574.2:c.6550T>C	p.Ser2184Pro	p.S2184P	ENST00000366574	NM_001035.2	2184	Tcc/Ccc	0			1			C	S/P	uc001hyl.1	protein_coding	YES	CCDS55691.1			6550/14904									ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	c.(6550-6552)TCC>CCC			Superfamily_domains:0048280,Gene3D:1n4kA02,Pfam_domain:PF01365,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75	cardiac muscle ryanodine receptor				ENSP00000355533		42/105									COSM3747836,COSM3747835	42/105	.		ENST00000366574	Transcript	1		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	ENSG00000198626	g.chr1:237794836T>C	10484			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=RYR2_HUMAN&rb=2121&re=2332&var=S2184P	NA	getma.org/?cm=var&var=hg19,1,237794836,T,C&fts=all	S2184P	--	--	1																																			1,1	1		probably_damaging(0.943)	p.S2184P	NM_001035	NP_001026			1,1	RYR2_HUMAN	RYR2	HGNC	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN		42	6670	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	UPI0000DD0308	2184			Cytoplasmic (By similarity).|4 X approximate repeats.		SNV	RYR2,missense_variant,p.Ser2184Pro,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Ser2168Pro,ENST00000542537,;RYR2,missense_variant,p.Ser2182Pro,ENST00000360064,;	uc001hyl.1	c.6550T>C	6867/16562	4	4			c.6550T>C						1	SNP	c.(6550-6552)TCC>CCC	33	33			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Broad	cardiac muscle ryanodine receptor			237794836		0.393	ENSG00000198626	13549	g.chr1:237794836T>C	cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding							25.622722	KEEP	6	6	-1	19	23	6	6	-1	29.807983	19	23	0.2	1	0	0	0	0	1	0	0	0	--	--		0	C				3	GBM-02-0047-TP	p.S2184P	T	AGGTGGAGAGTCCAAGGTAAC	NM_001035	NP_001026	237794836	Q92736	RYR2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		42	6670	+	C	C	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	Missense_Mutation	2184			Cytoplasmic (By similarity).|4 X approximate repeats.			
RYR2	6262	broad.mit.edu	GRCh37	1	237604722	237604722	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-02-2470-01	TCGA-02-2470-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366574.2:c.1109T>A	p.Leu370Gln	p.L370Q	ENST00000366574	NM_001035.2	370	cTa/cAa	0			1			A	L/Q	uc001hyl.1	protein_coding	YES	CCDS55691.1			1109/14904									ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	c.(1108-1110)CTA>CAA			Gene3D:2.80.10.50,Pfam_domain:PF02815,PROSITE_profiles:PS50919,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75,SMART_domains:SM00472,Superfamily_domains:SSF82109	cardiac muscle ryanodine receptor				ENSP00000355533		13/105									COSM3400491,COSM3400490	13/105	.		ENST00000366574	Transcript	1		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	ENSG00000198626	g.chr1:237604722T>A	10484			MODERATE		1.96	medium	getma.org/?cm=msa&ty=f&p=RYR2_HUMAN&rb=226&re=406&var=L370Q	getma.org/pdb.php?prot=RYR2_HUMAN&from=226&to=406&var=L370Q	getma.org/?cm=var&var=hg19,1,237604722,T,A&fts=all	L370Q	--	--	1																																			1,1	1		probably_damaging(0.986)	p.L370Q	NM_001035	NP_001026			1,1	RYR2_HUMAN	RYR2	HGNC	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN		13	1229	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	UPI0000DD0308	370			Cytoplasmic (By similarity).|MIR 5.		SNV	RYR2,missense_variant,p.Leu370Gln,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Leu354Gln,ENST00000542537,;RYR2,missense_variant,p.Leu368Gln,ENST00000360064,;	uc001hyl.1	c.1109T>A	1426/16562	2	2			c.1109T>A						1	SNP	c.(1108-1110)CTA>CAA	36	36			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Broad	cardiac muscle ryanodine receptor			237604722		0.373	ENSG00000198626	13549	g.chr1:237604722T>A	cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding							101.9521	KEEP	27	19	-1	68	64	27	19	-1	110.813272	68	64	0.25	1	0	0	0	0	1	0	0	0	--	--		0	A				5	GBM-02-2470-TP	p.L370Q	T	GACACAGGCCTATGGCTTACT	NM_001035	NP_001026	237604722	Q92736	RYR2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		13	1229	+	A	A	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	Missense_Mutation	370			Cytoplasmic (By similarity).|MIR 5.			
RYR2	6262	broad.mit.edu	GRCh37	1	237540686	237540686	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366574.2:c.527G>A	p.Arg176Gln	p.R176Q	ENST00000366574	NM_001035.2	176	cGa/cAa	0			1			A	R/Q	uc001hyl.1	protein_coding	YES	CCDS55691.1			527/14904									ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	c.(526-528)CGA>CAA			Gene3D:2.80.10.50,Pfam_domain:PF08709,Prints_domain:PR00795,PROSITE_profiles:PS50919,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75,SMART_domains:SM00472,Superfamily_domains:SSF82109	cardiac muscle ryanodine receptor				ENSP00000355533		8/105									COSM3400488,COSM3400487	8/105	.		ENST00000366574	Transcript	1		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	ENSG00000198626	g.chr1:237540686G>A	10484			MODERATE		2.81	medium	getma.org/?cm=msa&ty=f&p=RYR2_HUMAN&rb=9&re=223&var=R176Q	getma.org/pdb.php?prot=RYR2_HUMAN&from=9&to=223&var=R176Q	getma.org/?cm=var&var=hg19,1,237540686,G,A&fts=all	R176Q	--	--	1																																			1,1	1		benign(0.171)	p.R176Q	NM_001035	NP_001026			1,1	RYR2_HUMAN	RYR2	HGNC	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN		8	647	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	UPI0000DD0308	176		R -> Q (in ARVD2 and CPVT1).	Cytoplasmic (By similarity).|MIR 2.		SNV	RYR2,missense_variant,p.Arg176Gln,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Arg160Gln,ENST00000542537,;RYR2,missense_variant,p.Arg174Gln,ENST00000360064,;	uc001hyl.1	c.527G>A	844/16562	2	2			c.527G>A						1	SNP	c.(526-528)CGA>CAA	42	42			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Broad	cardiac muscle ryanodine receptor			237540686		0.438	ENSG00000198626	13549	g.chr1:237540686G>A	cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding							62.965085	KEEP	8	15	-1	16	14	8	15	-1	63.183499	16	14	0.428571	1	0	0	0	0	1	0	0	0	--	--		0	A				12	GBM-06-0125-TP	p.R176Q	G	GAAAAAGTACGAGTTGGAGAT	NM_001035	NP_001026	237540686	Q92736	RYR2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		8	647	+	A	A	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	Missense_Mutation	176		R -> Q (in ARVD2 and CPVT1).	Cytoplasmic (By similarity).|MIR 2.			
RYR2	6262	broad.mit.edu	GRCh37	1	237780709	237780709	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0145-01	TCGA-06-0145-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366574.2:c.5839G>C	p.Val1947Leu	p.V1947L	ENST00000366574	NM_001035.2	1947	Gtc/Ctc	0			1			C	V/L	uc001hyl.1	protein_coding	YES	CCDS55691.1			5839/14904									ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	c.(5839-5841)GTC>CTC			hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75	cardiac muscle ryanodine receptor				ENSP00000355533		38/105										38/105	.		ENST00000366574	Transcript	1		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	ENSG00000198626	g.chr1:237780709G>C	10484			MODERATE		0.105	neutral	getma.org/?cm=msa&ty=f&p=RYR2_HUMAN&rb=1762&re=1961&var=V1947L	NA	getma.org/?cm=var&var=hg19,1,237780709,G,C&fts=all	V1947L	--	--	1																																				1		benign(0.029)	p.V1947L	NM_001035	NP_001026				RYR2_HUMAN	RYR2	HGNC	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN		38	5959	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	UPI0000DD0308	1947			Cytoplasmic (By similarity).|4 X approximate repeats.		SNV	RYR2,missense_variant,p.Val1947Leu,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Val1931Leu,ENST00000542537,;RYR2,missense_variant,p.Val1945Leu,ENST00000360064,;	uc001hyl.1	c.5839G>C	6156/16562	3	3			c.5839G>C						1	SNP	c.(5839-5841)GTC>CTC	59	59			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Broad	cardiac muscle ryanodine receptor			237780709		0.448	ENSG00000198626	13549	g.chr1:237780709G>C	cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding							45.672773	KEEP	5	11	-1	29	19	5	11	-1	48.297781	29	19	0.275862	1	0	0	0	0	1	0	0	0	--	--		0	C				23	GBM-06-0145-TP	p.V1947L	G	ATACAACGAAGTCATGCAAGC	NM_001035	NP_001026	237780709	Q92736	RYR2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		38	5959	+	C	C	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	Missense_Mutation	1947			Cytoplasmic (By similarity).|4 X approximate repeats.			
RYR2	6262	broad.mit.edu	GRCh37	1	237863752	237863752	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366574.2:c.9352G>A	p.Gly3118Arg	p.G3118R	ENST00000366574	NM_001035.2	3118	Gga/Aga	0			1			A	G/R	uc001hyl.1	protein_coding	YES	CCDS55691.1			9352/14904						uncertain_significance			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	c.(9352-9354)GGA>AGA			hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75	cardiac muscle ryanodine receptor				ENSP00000355533		65/105									rs730880194	65/105	.		ENST00000366574	Transcript	1		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	ENSG00000198626	g.chr1:237863752G>A	10484			MODERATE		2.885	medium	getma.org/?cm=msa&ty=f&p=RYR2_HUMAN&rb=3109&re=3308&var=G3118R	NA	getma.org/?cm=var&var=hg19,1,237863752,G,A&fts=all	G3118R	--	--	1																																		RYR2_uc010pxz.1_Missense_Mutation_p.G73R	1	1		probably_damaging(0.989)	p.G3118R	NM_001035	NP_001026				RYR2_HUMAN	RYR2	HGNC	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN		65	9472	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	UPI0000DD0308	3118					SNV	RYR2,missense_variant,p.Gly3118Arg,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Gly3102Arg,ENST00000542537,;RYR2,missense_variant,p.Gly3116Arg,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	uc001hyl.1	c.9352G>A	9669/16562	1	1			c.9352G>A						1	SNP	c.(9352-9354)GGA>AGA	60	60			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Broad	cardiac muscle ryanodine receptor			237863752		0.373	ENSG00000198626	13549	g.chr1:237863752G>A	cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding							34.513795	KEEP	3	9	-1	9	8	3	9	-1	34.649333	9	8	0.423077	1	0	0	0	0	1	0	0	0	--	--		0	A			RYR2_uc010pxz.1_Missense_Mutation_p.G73R	23	GBM-06-0145-TP	p.G3118R	G	GCATCAGTTCGGAGAAGACCT	NM_001035	NP_001026	237863752	Q92736	RYR2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		65	9472	+	A	A	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	Missense_Mutation	3118						
RYR2	6262	broad.mit.edu	GRCh37	1	237924281	237924281	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366574.2:c.11429G>A	p.Arg3810Gln	p.R3810Q	ENST00000366574	NM_001035.2	3810	cGa/cAa	0			1			A	R/Q	uc001hyl.1	protein_coding	YES	CCDS55691.1			11429/14904									ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	c.(11428-11430)CGA>CAA			hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75	cardiac muscle ryanodine receptor				ENSP00000355533		84/105									COSM1601979,COSM3400532	84/105	.		ENST00000366574	Transcript	1		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	ENSG00000198626	g.chr1:237924281G>A	10484			MODERATE		2.075	medium	getma.org/?cm=msa&ty=f&p=RYR2_HUMAN&rb=3709&re=3825&var=R3810Q	NA	getma.org/?cm=var&var=hg19,1,237924281,G,A&fts=all	R3810Q	--	--	1																																		RYR2_uc010pya.1_Missense_Mutation_p.R225Q	1,1	1		benign(0.426)	p.R3810Q	NM_001035	NP_001026			1,1	RYR2_HUMAN	RYR2	HGNC	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN		84	11549	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	UPI0000DD0308	3810					SNV	RYR2,missense_variant,p.Arg3810Gln,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Arg3794Gln,ENST00000542537,;RYR2,missense_variant,p.Arg3816Gln,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	uc001hyl.1	c.11429G>A	11746/16562	1	1			c.11429G>A						1	SNP	c.(11428-11430)CGA>CAA	53	53			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Broad	cardiac muscle ryanodine receptor			237924281		0.393	ENSG00000198626	13549	g.chr1:237924281G>A	cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding							13.400031	KEEP	3	3	-1	1	4	3	3	-1	13.400031	1	4	0.5	1	0	0	0	0	1	0	0	0	--	--		0	A			RYR2_uc010pya.1_Missense_Mutation_p.R225Q	26	GBM-06-0154-TP	p.R3810Q	G	GCATTTGAGCGACAAAACAAA	NM_001035	NP_001026	237924281	Q92736	RYR2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		84	11549	+	A	A	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	Missense_Mutation	3810						
RYR2	6262	broad.mit.edu	GRCh37	1	237777626	237777626	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0157-01	TCGA-06-0157-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366574.2:c.5198C>T	p.Thr1733Met	p.T1733M	ENST00000366574	NM_001035.2	1733	aCg/aTg	0			1			T	T/M	uc001hyl.1	protein_coding	YES	CCDS55691.1			5198/14904									ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	c.(5197-5199)ACG>ATG			hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75	cardiac muscle ryanodine receptor				ENSP00000355533		37/105	2.48E-05					1.50E-05		0.000121	rs750668049,COSM3385932,COSM3385931	37/105	.		ENST00000366574	Transcript	1		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	ENSG00000198626	g.chr1:237777626C>T	10484			MODERATE		2.505	medium	getma.org/?cm=msa&ty=f&p=RYR2_HUMAN&rb=1562&re=1761&var=T1733M	NA	getma.org/?cm=var&var=hg19,1,237777626,C,T&fts=all	T1733M	--	--	1																																			0,1,1	1		probably_damaging(0.958)	p.T1733M	NM_001035	NP_001026			0,1,1	RYR2_HUMAN	RYR2	HGNC	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN		37	5318	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	UPI0000DD0308	1733			Cytoplasmic (By similarity).|4 X approximate repeats.		SNV	RYR2,missense_variant,p.Thr1733Met,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Thr1717Met,ENST00000542537,;RYR2,missense_variant,p.Thr1731Met,ENST00000360064,;	uc001hyl.1	c.5198C>T	5515/16562	1	1			c.5198C>T						1	SNP	c.(5197-5199)ACG>ATG	13	13			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Broad	cardiac muscle ryanodine receptor			237777626		0.557	ENSG00000198626	13549	g.chr1:237777626C>T	cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding							55.082806	KEEP	10	12	-1	15	24	10	12	-1	55.983485	15	24	0.363636	1	0	0	0	0	1	0	0	0	--	--		0	T				28	GBM-06-0157-TP	p.T1733M	C	ACGGAGGAGACGAAGAGCATC	NM_001035	NP_001026	237777626	Q92736	RYR2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5318	+	T	T	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	Missense_Mutation	1733			Cytoplasmic (By similarity).|4 X approximate repeats.			
RYR2	6262	broad.mit.edu	GRCh37	1	237813234	237813234	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0237-01	TCGA-06-0237-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366574.2:c.7570G>A	p.Val2524Ile	p.V2524I	ENST00000366574	NM_001035.2	2524	Gtc/Atc	0			1			A	V/I	uc001hyl.1	protein_coding	YES	CCDS55691.1			7570/14904									ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	c.(7570-7572)GTC>ATC			hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75	cardiac muscle ryanodine receptor				ENSP00000355533		50/105									COSM1470244,COSM3400526	50/105	.		ENST00000366574	Transcript	1		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	ENSG00000198626	g.chr1:237813234G>A	10484			MODERATE		1.175	low	getma.org/?cm=msa&ty=f&p=RYR2_HUMAN&rb=2333&re=2532&var=V2524I	NA	getma.org/?cm=var&var=hg19,1,237813234,G,A&fts=all	V2524I	--	--	1																																			1,1	1		benign(0.352)	p.V2524I	NM_001035	NP_001026			1,1	RYR2_HUMAN	RYR2	HGNC	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN		50	7690	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	UPI0000DD0308	2524			Cytoplasmic (By similarity).|4 X approximate repeats.		SNV	RYR2,missense_variant,p.Val2524Ile,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Val2508Ile,ENST00000542537,;RYR2,missense_variant,p.Val2522Ile,ENST00000360064,;	uc001hyl.1	c.7570G>A	7887/16562	1	1			c.7570G>A						1	SNP	c.(7570-7572)GTC>ATC	51	51			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Broad	cardiac muscle ryanodine receptor			237813234		0.463	ENSG00000198626	13549	g.chr1:237813234G>A	cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding							253.286063	KEEP	50	46	-1	118	85	50	46	-1	260.23142	118	85	0.32963	1	0	0	0	0	1	0	0	0	--	--		0	A				54	GBM-06-0237-TP	p.V2524I	G	TTGCACAGCCGTCTTGCCATT	NM_001035	NP_001026	237813234	Q92736	RYR2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		50	7690	+	A	A	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	Missense_Mutation	2524			Cytoplasmic (By similarity).|4 X approximate repeats.			
RYR2	6262	broad.mit.edu	GRCh37	1	237948008	237948008	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-06-0745-01	TCGA-06-0745-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366574.2:c.12996C>G	p.Ala4332=	p.A4332=	ENST00000366574	NM_001035.2	4332	gcC/gcG	0			1			G	A	uc001hyl.1	protein_coding	YES	CCDS55691.1			12996/14904									ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	c.(12994-12996)GCC>GCG			hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75	cardiac muscle ryanodine receptor				ENSP00000355533		90/105									COSM3400539,COSM3400538	90/105	.		ENST00000366574	Transcript	1		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	ENSG00000198626	g.chr1:237948008C>G	10484			LOW								--	--	1																																		RYR2_uc010pya.1_Silent_p.A747A	1,1	1			p.A4332A	NM_001035	NP_001026			1,1	RYR2_HUMAN	RYR2	HGNC	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN		90	13116	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	UPI0000DD0308	4332					SNV	RYR2,synonymous_variant,p.=,ENST00000366574,NM_001035.2;RYR2,synonymous_variant,p.=,ENST00000542537,;RYR2,synonymous_variant,p.=,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	uc001hyl.1	c.12996C>G	13313/16562	3	3			c.12996C>G						1	SNP	c.(12994-12996)GCC>GCG	7	7			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Broad	cardiac muscle ryanodine receptor			237948008		0.557	ENSG00000198626	13549	g.chr1:237948008C>G	cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding							84.297259	KEEP	21	12	-1	42	22	21	12	-1	86.399155	42	22	0.337079	1	0	0	0	0	0	0	1	0	--	--		0	G			RYR2_uc010pya.1_Silent_p.A747A	67	GBM-06-0745-TP	p.A4332A	C	AACTGTTAGCCAACATGCCAG	NM_001035	NP_001026	237948008	Q92736	RYR2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	13116	+	G	G	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	Silent	4332						
RYR2	6262	broad.mit.edu	GRCh37	1	237604756	237604756	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366574.2:c.1143C>T	p.Ser381=	p.S381=	ENST00000366574	NM_001035.2	381	tcC/tcT	0	T:0.0022	T:0.0015	1	T:0		T	S	uc001hyl.1	protein_coding	YES	CCDS55691.1			1143/14904						benign,likely_benign			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	c.(1141-1143)TCC>TCT			Gene3D:2.80.10.50,Pfam_domain:PF02815,PROSITE_profiles:PS50919,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75,Superfamily_domains:SSF82109	cardiac muscle ryanodine receptor		T:0	T:0	ENSP00000355533	T:0	13/105	0.000265	0.00286	0.000173			1.51E-05		6.25E-05	rs368844286,COSM3400493,COSM3400492	13/105	common_variant		ENST00000366574	Transcript	1	T:0.0006	cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	ENSG00000198626	g.chr1:237604756C>T	10484			LOW								--	--	1																																			1,1,1	1			p.S381S	NM_001035	NP_001026	T:0.001		0,1,1	RYR2_HUMAN	RYR2	HGNC	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN		13	1263	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	UPI0000DD0308	381			Cytoplasmic (By similarity).|MIR 5.		SNV	RYR2,synonymous_variant,p.=,ENST00000366574,NM_001035.2;RYR2,synonymous_variant,p.=,ENST00000542537,;RYR2,synonymous_variant,p.=,ENST00000360064,;	uc001hyl.1	c.1143C>T	1460/16562	1	1			c.1143C>T						1	SNP	c.(1141-1143)TCC>TCT	14	14			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Broad	cardiac muscle ryanodine receptor			237604756		0.348	ENSG00000198626	13549	g.chr1:237604756C>T	cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding							136.258579	KEEP	36	21	-1	48	66	36	21	-1	141.222661	48	66	0.306667	1	0	0	0	0	0	0	1	0	--	--		0	T				73	GBM-06-0877-TP	p.S381S	C	ACGTGAAATCCGTGAGAATGG	NM_001035	NP_001026	237604756	Q92736	RYR2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		13	1263	+	T	T	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	Silent	381			Cytoplasmic (By similarity).|MIR 5.			
RYR2	6262	broad.mit.edu	GRCh37	1	237947200	237947200	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01	TCGA-06-5413-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366574.2:c.12188C>T	p.Thr4063Met	p.T4063M	ENST00000366574	NM_001035.2	4063	aCg/aTg	0			1			T	T/M	uc001hyl.1	protein_coding	YES	CCDS55691.1			12188/14904									ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	c.(12187-12189)ACG>ATG			Gene3D:1.10.238.10,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75,Superfamily_domains:SSF47473	cardiac muscle ryanodine receptor				ENSP00000355533		90/105									COSM210500,COSM3400535	90/105	.		ENST00000366574	Transcript	1		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	ENSG00000198626	g.chr1:237947200C>T	10484			MODERATE		-1.15	neutral	getma.org/?cm=msa&ty=f&p=RYR2_HUMAN&rb=3960&re=4159&var=T4063M	NA	getma.org/?cm=var&var=hg19,1,237947200,C,T&fts=all	T4063M	--	--	1																																		RYR2_uc010pya.1_Missense_Mutation_p.T478M	1,1	1		possibly_damaging(0.787)	p.T4063M	NM_001035	NP_001026			1,1	RYR2_HUMAN	RYR2	HGNC	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN		90	12308	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	UPI0000DD0308	4063					SNV	RYR2,missense_variant,p.Thr4063Met,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Thr4047Met,ENST00000542537,;RYR2,missense_variant,p.Thr4069Met,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	uc001hyl.1	c.12188C>T	12505/16562	1	1			c.12188C>T						1	SNP	c.(12187-12189)ACG>ATG	10	10			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Broad	cardiac muscle ryanodine receptor			237947200		0.483	ENSG00000198626	13549	g.chr1:237947200C>T	cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding							13.814321	KEEP	3	2	-1	6	7	3	2	-1	14.585695	6	7	0.277778	1	0	0	0	0	1	0	0	0	--	--		0	T			RYR2_uc010pya.1_Missense_Mutation_p.T478M	96	GBM-06-5413-TP	p.T4063M	C	CAGTCAGAAACGGAATTTCTT	NM_001035	NP_001026	237947200	Q92736	RYR2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12308	+	T	T	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	Missense_Mutation	4063						
RYR2	6262	broad.mit.edu	GRCh37	1	237806746	237806746	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-6388-01	TCGA-06-6388-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366574.2:c.7341A>T	p.Lys2447Asn	p.K2447N	ENST00000366574	NM_001035.2	2447	aaA/aaT	0			1			T	K/N	uc001hyl.1	protein_coding	YES	CCDS55691.1			7341/14904									ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	c.(7339-7341)AAA>AAT			hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75	cardiac muscle ryanodine receptor				ENSP00000355533		48/105									COSM3400524,COSM3400523	48/105	.		ENST00000366574	Transcript	1		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	ENSG00000198626	g.chr1:237806746A>T	10484			MODERATE		2.485	medium	getma.org/?cm=msa&ty=f&p=RYR2_HUMAN&rb=2333&re=2532&var=K2447N	NA	getma.org/?cm=var&var=hg19,1,237806746,A,T&fts=all	K2447N	--	--	1																																			1,1	1		probably_damaging(0.981)	p.K2447N	NM_001035	NP_001026			1,1	RYR2_HUMAN	RYR2	HGNC	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN		48	7461	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	UPI0000DD0308	2447			Cytoplasmic (By similarity).|4 X approximate repeats.		SNV	RYR2,missense_variant,p.Lys2447Asn,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Lys2431Asn,ENST00000542537,;RYR2,missense_variant,p.Lys2445Asn,ENST00000360064,;	uc001hyl.1	c.7341A>T	7658/16562	1	1			c.7341A>T						1	SNP	c.(7339-7341)AAA>AAT	7	7			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Broad	cardiac muscle ryanodine receptor			237806746		0.438	ENSG00000198626	13549	g.chr1:237806746A>T	cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding							132.434447	KEEP	28	24	-1	34	33	28	24	-1	132.648297	34	33	0.45098	1	0	0	0	0	1	0	0	0	--	--		0	T				104	GBM-06-6388-TP	p.K2447N	A	CAATAGCCAAAGGTAAGGCCA	NM_001035	NP_001026	237806746	Q92736	RYR2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		48	7461	+	T	T	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	Missense_Mutation	2447			Cytoplasmic (By similarity).|4 X approximate repeats.			
RYR2	0	broad.mit.edu	GRCh37	1	237659969	237659969	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-6695-01	TCGA-06-6695-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366574.2:c.2120C>A	p.Pro707His	p.P707H	ENST00000366574	NM_001035.2	707	cCt/cAt	0			1			A	P/H	uc001hyl.1	protein_coding	YES	CCDS55691.1			2120/14904									ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	c.(2119-2121)CCT>CAT			Pfam_domain:PF00622,PROSITE_profiles:PS50188,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75,Low_complexity_(Seg):seg,SMART_domains:SM00449,Superfamily_domains:SSF49899	cardiac muscle ryanodine receptor				ENSP00000355533		20/105									COSM3400501,COSM3400500	20/105	.		ENST00000366574	Transcript	1		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	ENSG00000198626	g.chr1:237659969C>A	10484			MODERATE		3.155	medium	getma.org/?cm=msa&ty=f&p=RYR2_HUMAN&rb=670&re=808&var=P707H	NA	getma.org/?cm=var&var=hg19,1,237659969,C,A&fts=all	P707H	--	--	1																																			1,1	1		probably_damaging(1)	p.P707H	NM_001035	NP_001026			1,1	RYR2_HUMAN	RYR2	HGNC	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN		20	2240	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	UPI0000DD0308	707			Cytoplasmic (By similarity).|B30.2/SPRY 1.		SNV	RYR2,missense_variant,p.Pro707His,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Pro691His,ENST00000542537,;RYR2,missense_variant,p.Pro705His,ENST00000360064,;	uc001hyl.1	c.2120C>A	2437/16562	2	2			c.2120C>A						1	SNP	c.(2119-2121)CCT>CAT	25	25			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Broad	cardiac muscle ryanodine receptor			237659969		0.507	ENSG00000198626	13549	g.chr1:237659969C>A	cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding							114.58802	KEEP	29	16	0.355555556	44	28	29	16	0.355555556	115.653892	44	28	0.394495	1	0	0	0	0	1	0	0	0	--	--		0	A				110	GBM-06-6695-TP	p.P707H	C	TCTCCCTACCCTGGAGGGGGC	NM_001035	NP_001026	237659969	Q92736	RYR2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		20	2240	+	A	A	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	Missense_Mutation	707			Cytoplasmic (By similarity).|B30.2/SPRY 1.			
RYR2	0	broad.mit.edu	GRCh37	1	237890471	237890471	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01	TCGA-12-0619-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366574.2:c.10810C>T	p.Arg3604Trp	p.R3604W	ENST00000366574	NM_001035.2	3604	Cgg/Tgg	0			1			T	R/W	uc001hyl.1	protein_coding	YES	CCDS55691.1			10810/14904									ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	c.(10810-10812)CGG>TGG			hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75	cardiac muscle ryanodine receptor				ENSP00000355533		76/105									COSM2048914,COSM3400531	76/105	.		ENST00000366574	Transcript	1		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	ENSG00000198626	g.chr1:237890471C>T	10484			MODERATE		2.865	medium	getma.org/?cm=msa&ty=f&p=RYR2_HUMAN&rb=3509&re=3708&var=R3604W	getma.org/pdb.php?prot=RYR2_HUMAN&from=3509&to=3708&var=R3604W	getma.org/?cm=var&var=hg19,1,237890471,C,T&fts=all	R3604W	--	--	1																																		RYR2_uc010pya.1_5'UTR	1,1	1		probably_damaging(0.997)	p.R3604W	NM_001035	NP_001026			1,1	RYR2_HUMAN	RYR2	HGNC	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN		76	10930	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	UPI0000DD0308	3604					SNV	RYR2,missense_variant,p.Arg3604Trp,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Arg3588Trp,ENST00000542537,;RYR2,missense_variant,p.Arg3602Trp,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;RYR2,downstream_gene_variant,,ENST00000609253,;	uc001hyl.1	c.10810C>T	11127/16562	1	1			c.10810C>T						1	SNP	c.(10810-10812)CGG>TGG	3	3			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Broad	cardiac muscle ryanodine receptor			237890471		0.403	ENSG00000198626	13549	g.chr1:237890471C>T	cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding							132.887137	KEEP	19	31	-1	29	41	19	31	-1	133.468285	29	41	0.416667	1	0	0	0	0	1	0	0	0	--	--		0	T			RYR2_uc010pya.1_5'UTR	120	GBM-12-0619-TP	p.R3604W	C	AGCCTGCTTCCGGATGGCCCC	NM_001035	NP_001026	237890471	Q92736	RYR2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		76	10930	+	T	T	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	Missense_Mutation	3604						
RYR2	0	broad.mit.edu	GRCh37	1	237995876	237995876	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-12-3649-01	TCGA-12-3649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366574.2:c.14833C>G	p.Gln4945Glu	p.Q4945E	ENST00000366574	NM_001035.2	4945	Caa/Gaa	0			1			G	Q/E	uc001hyl.1	protein_coding	YES	CCDS55691.1			14833/14904									ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	c.(14833-14835)CAA>GAA			hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75	cardiac muscle ryanodine receptor				ENSP00000355533		105/105									COSM3400541,COSM3400540	105/105	.		ENST00000366574	Transcript	1		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	ENSG00000198626	g.chr1:237995876C>G	10484			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=RYR2_HUMAN&rb=4867&re=4967&var=Q4945E	NA	getma.org/?cm=var&var=hg19,1,237995876,C,G&fts=all	Q4945E	--	--	1																																		RYR2_uc010pyb.1_3'UTR	1,1	1		benign(0.001)	p.Q4945E	NM_001035	NP_001026			1,1	RYR2_HUMAN	RYR2	HGNC	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN		105	14953	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	UPI0000DD0308	4945					SNV	RYR2,missense_variant,p.Gln4945Glu,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Gln4929Glu,ENST00000542537,;RYR2,missense_variant,p.Gln4951Glu,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000608590,;RYR2,non_coding_transcript_exon_variant,,ENST00000462585,;	uc001hyl.1	c.14833C>G	15150/16562	3	3			c.14833C>G						1	SNP	c.(14833-14835)CAA>GAA	12	12			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Broad	cardiac muscle ryanodine receptor			237995876		0.383	ENSG00000198626	13549	g.chr1:237995876C>G	cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding							28.511011	KEEP	5	5	-1	12	26	5	5	-1	31.16204	12	26	0.238095	1	0	0	0	0	1	0	0	0	--	--		0	G			RYR2_uc010pyb.1_3'UTR	125	GBM-12-3649-TP	p.Q4945E	C	GAAGATGTATCAAGAAAGGTG	NM_001035	NP_001026	237995876	Q92736	RYR2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		105	14953	+	G	G	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	Missense_Mutation	4945						
RYR2	0	broad.mit.edu	GRCh37	1	237787140	237787151	+	inframe_deletion	In_Frame_Del	DEL	GATTTCCATGAA	GATTTCCATGAA	-			TCGA-12-3652-01	TCGA-12-3652-01	GATTTCCATGAA	GATTTCCATGAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366574.2:c.5997_6008delCCATGAAGATTT	p.Phe1999_Asp2002del	p.F1999_D2002del	ENST00000366574	NM_001035.2	1998	GATTTCCATGAA/-	0			1			-	DFHE/-	uc001hyl.1	protein_coding	YES	CCDS55691.1			5992-6003/14904									ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	c.(5992-6003)GATTTCCATGAAdel			hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75	cardiac muscle ryanodine receptor				ENSP00000355533		39/105										39/105	.		ENST00000366574	Transcript	1		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	ENSG00000198626	g.chr1:237787140_237787151delGATTTCCATGAA	10484	5		MODERATE								--	--	1																																				1			p.DFHE1998del	NM_001035	NP_001026				RYR2_HUMAN	RYR2	HGNC	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN		39	6112_6123	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	UPI0000DD0308	1998_2001			Cytoplasmic (By similarity).|4 X approximate repeats.		deletion	RYR2,inframe_deletion,p.Phe1999_Asp2002del,ENST00000366574,NM_001035.2;RYR2,inframe_deletion,p.Phe1983_Asp1986del,ENST00000542537,;RYR2,inframe_deletion,p.Phe1997_Asp2000del,ENST00000360064,;	uc001hyl.1	c.5992_6003delGATTTCCATGAA	6309-6320/16562	5	5			c.5992_6003delGATTTCCATGAA						1	DEL	c.(5992-6003)GATTTCCATGAAdel	4	4			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Broad	cardiac muscle ryanodine receptor			237787151		0.307	ENSG00000198626	13549	g.chr1:237787140_237787151delGATTTCCATGAA	cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding																				0.16	1	1	0	1	0	0	0	0	0	--	--		0	-				127	GBM-12-3652-TP	p.DFHE1998del	GATTTCCATGAA	CCAACTATTGGATTTCCATGAAGATTTGATGA	NM_001035	NP_001026	237787140	Q92736	RYR2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		39	6112_6123	+	-	-	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	In_Frame_Del	1998_2001			Cytoplasmic (By similarity).|4 X approximate repeats.			
RYR2	0	broad.mit.edu	GRCh37	1	237774131	237774131	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0786-01	TCGA-14-0786-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366574.2:c.4753C>T	p.Arg1585Cys	p.R1585C	ENST00000366574	NM_001035.2	1585	Cgc/Tgc	0		T:0.0008	1	T:0		T	R/C	uc001hyl.1	protein_coding	YES	CCDS55691.1			4753/14904									ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	c.(4753-4755)CGC>TGC			hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75	cardiac muscle ryanodine receptor		T:0		ENSP00000355533	T:0	36/105	8.27E-06	0.000123							rs528206995,COSM3400506,COSM3400505	36/105	.		ENST00000366574	Transcript	1	T:0.0002	cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	ENSG00000198626	g.chr1:237774131C>T	10484			MODERATE		2.9	medium	getma.org/?cm=msa&ty=f&p=RYR2_HUMAN&rb=1562&re=1761&var=R1585C	NA	getma.org/?cm=var&var=hg19,1,237774131,C,T&fts=all	R1585C	--	--	1																																			0,1,1	1		probably_damaging(0.98)	p.R1585C	NM_001035	NP_001026	T:0		0,1,1	RYR2_HUMAN	RYR2	HGNC	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN		36	4873	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	UPI0000DD0308	1585			Cytoplasmic (By similarity).|4 X approximate repeats.		SNV	RYR2,missense_variant,p.Arg1585Cys,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Arg1569Cys,ENST00000542537,;RYR2,missense_variant,p.Arg1583Cys,ENST00000360064,;	uc001hyl.1	c.4753C>T	5070/16562	2	2			c.4753C>T						1	SNP	c.(4753-4755)CGC>TGC	33	33			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Broad	cardiac muscle ryanodine receptor			237774131		0.537	ENSG00000198626	13549	g.chr1:237774131C>T	cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding							24.400729	KEEP	6	6	-1	2	4	6	6	-1	24.462868	2	4	0.571429	1	0	0	0	0	1	0	0	0	--	--		0	T				134	GBM-14-0786-TP	p.R1585C	C	GTGCCCCCCGCGCCTCCACGT	NM_001035	NP_001026	237774131	Q92736	RYR2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		36	4873	+	T	T	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	Missense_Mutation	1585			Cytoplasmic (By similarity).|4 X approximate repeats.			
RYR2	0	broad.mit.edu	GRCh37	1	237791221	237791221	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0787-01	TCGA-14-0787-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366574.2:c.6281G>A	p.Gly2094Asp	p.G2094D	ENST00000366574	NM_001035.2	2094	gGc/gAc	0			1			A	G/D	uc001hyl.1	protein_coding	YES	CCDS55691.1			6281/14904									ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	c.(6280-6282)GGC>GAC			hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75	cardiac muscle ryanodine receptor				ENSP00000355533		41/105									COSM3400520,COSM3400519	41/105	.		ENST00000366574	Transcript	1		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	ENSG00000198626	g.chr1:237791221G>A	10484			MODERATE		2.87	medium	getma.org/?cm=msa&ty=f&p=RYR2_HUMAN&rb=1962&re=2120&var=G2094D	NA	getma.org/?cm=var&var=hg19,1,237791221,G,A&fts=all	G2094D	--	--	1																																			1,1	1		probably_damaging(0.998)	p.G2094D	NM_001035	NP_001026			1,1	RYR2_HUMAN	RYR2	HGNC	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN		41	6401	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	UPI0000DD0308	2094			Cytoplasmic (By similarity).|4 X approximate repeats.		SNV	RYR2,missense_variant,p.Gly2094Asp,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Gly2078Asp,ENST00000542537,;RYR2,missense_variant,p.Gly2092Asp,ENST00000360064,;	uc001hyl.1	c.6281G>A	6598/16562	2	2			c.6281G>A						1	SNP	c.(6280-6282)GGC>GAC	20	20			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Broad	cardiac muscle ryanodine receptor			237791221		0.557	ENSG00000198626	13549	g.chr1:237791221G>A	cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding							90.976234	KEEP	25	12	-1	29	22	25	12	-1	91.329869	29	22	0.426667	1	0	0	0	0	1	0	0	0	--	--		0	A				135	GBM-14-0787-TP	p.G2094D	G	CAGTATGACGGCATTGGGGGT	NM_001035	NP_001026	237791221	Q92736	RYR2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		41	6401	+	A	A	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	Missense_Mutation	2094			Cytoplasmic (By similarity).|4 X approximate repeats.			
RYR2	0	broad.mit.edu	GRCh37	1	237863751	237863751	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-1831-01	TCGA-27-1831-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366574.2:c.9351C>T	p.Phe3117=	p.F3117=	ENST00000366574	NM_001035.2	3117	ttC/ttT	0			1			T	F	uc001hyl.1	protein_coding	YES	CCDS55691.1			9351/14904									ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	c.(9349-9351)TTC>TTT			hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75	cardiac muscle ryanodine receptor				ENSP00000355533		65/105	8.29E-06							7.94E-05	rs773455753,COSM3400530,COSM3400529	65/105	.		ENST00000366574	Transcript	1		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	ENSG00000198626	g.chr1:237863751C>T	10484			LOW								--	--	1																																		RYR2_uc010pxz.1_Silent_p.F72F	0,1,1	1			p.F3117F	NM_001035	NP_001026			0,1,1	RYR2_HUMAN	RYR2	HGNC	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN		65	9471	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	UPI0000DD0308	3117					SNV	RYR2,synonymous_variant,p.=,ENST00000366574,NM_001035.2;RYR2,synonymous_variant,p.=,ENST00000542537,;RYR2,synonymous_variant,p.=,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	uc001hyl.1	c.9351C>T	9668/16562	2	2			c.9351C>T						1	SNP	c.(9349-9351)TTC>TTT	48	48			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Broad	cardiac muscle ryanodine receptor			237863751		0.373	ENSG00000198626	13549	g.chr1:237863751C>T	cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding							13.870024	KEEP	0	5	-1	5	8	0	5	-1	14.668066	5	8	0.277778	1	0	0	0	0	0	0	1	0	--	--		0	T			RYR2_uc010pxz.1_Silent_p.F72F	190	GBM-27-1831-TP	p.F3117F	C	AGCATCAGTTCGGAGAAGACC	NM_001035	NP_001026	237863751	Q92736	RYR2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		65	9471	+	T	T	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	Silent	3117						
RYR2	0	broad.mit.edu	GRCh37	1	237754030	237754030	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-1753-01	TCGA-28-1753-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366574.2:c.3898A>G	p.Met1300Val	p.M1300V	ENST00000366574	NM_001035.2	1300	Atg/Gtg	0			1			G	M/V	uc001hyl.1	protein_coding	YES	CCDS55691.1			3898/14904									ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	c.(3898-3900)ATG>GTG			hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75	cardiac muscle ryanodine receptor				ENSP00000355533		31/105									COSM2048598,COSM3400504	31/105	.		ENST00000366574	Transcript	1		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	ENSG00000198626	g.chr1:237754030A>G	10484			MODERATE		-0.205	neutral	getma.org/?cm=msa&ty=f&p=RYR2_HUMAN&rb=1222&re=1421&var=M1300V	NA	getma.org/?cm=var&var=hg19,1,237754030,A,G&fts=all	M1300V	--	--	1																																			1,1	1		benign(0.003)	p.M1300V	NM_001035	NP_001026			1,1	RYR2_HUMAN	RYR2	HGNC	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN		31	4018	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	UPI0000DD0308	1300			Cytoplasmic (By similarity).|4 X approximate repeats.		SNV	RYR2,missense_variant,p.Met1300Val,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Met1284Val,ENST00000542537,;RYR2,missense_variant,p.Met1298Val,ENST00000360064,;	uc001hyl.1	c.3898A>G	4215/16562	3	3			c.3898A>G						1	SNP	c.(3898-3900)ATG>GTG	13	13			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Broad	cardiac muscle ryanodine receptor			237754030		0.522	ENSG00000198626	13549	g.chr1:237754030A>G	cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding							293.685736	KEEP	66	54	-1	154	142	66	54	-1	307.997714	154	142	0.288515	1	0	0	0	0	1	0	0	0	--	--		0	G				207	GBM-28-1753-TP	p.M1300V	A	CACTGATATCATGTTTTATCG	NM_001035	NP_001026	237754030	Q92736	RYR2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		31	4018	+	G	G	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	Missense_Mutation	1300			Cytoplasmic (By similarity).|4 X approximate repeats.			
RYR2	0	broad.mit.edu	GRCh37	1	237936883	237936883	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5219-01	TCGA-28-5219-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366574.2:c.11710C>T	p.Arg3904Trp	p.R3904W	ENST00000366574	NM_001035.2	3904	Cgg/Tgg	0			1			T	R/W	uc001hyl.1	protein_coding	YES	CCDS55691.1			11710/14904									ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	c.(11710-11712)CGG>TGG			Pfam_domain:PF08454,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75	cardiac muscle ryanodine receptor				ENSP00000355533		87/105									COSM3400534,COSM3400533	87/105	.		ENST00000366574	Transcript	1		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	ENSG00000198626	g.chr1:237936883C>T	10484			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=RYR2_HUMAN&rb=3826&re=3959&var=R3904W	NA	getma.org/?cm=var&var=hg19,1,237936883,C,T&fts=all	R3904W	--	--	1																																		RYR2_uc010pya.1_Missense_Mutation_p.R319W	1,1	1		probably_damaging(0.985)	p.R3904W	NM_001035	NP_001026			1,1	RYR2_HUMAN	RYR2	HGNC	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN		87	11830	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	UPI0000DD0308	3904					SNV	RYR2,missense_variant,p.Arg3904Trp,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Arg3888Trp,ENST00000542537,;RYR2,missense_variant,p.Arg3910Trp,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	uc001hyl.1	c.11710C>T	12027/16562	2	2			c.11710C>T						1	SNP	c.(11710-11712)CGG>TGG	33	33			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Broad	cardiac muscle ryanodine receptor			237936883		0.338	ENSG00000198626	13549	g.chr1:237936883C>T	cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding							72.987581	KEEP	9	19	-1	32	36	9	19	-1	76.500577	32	36	0.293478	1	0	0	0	0	1	0	0	0	--	--		0	T			RYR2_uc010pya.1_Missense_Mutation_p.R319W	225	GBM-28-5219-TP	p.R3904W	C	ACAAGGACAACGGAATTTCTC	NM_001035	NP_001026	237936883	Q92736	RYR2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		87	11830	+	T	T	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	Missense_Mutation	3904						
RYR2	0	broad.mit.edu	GRCh37	1	237777926	237777926	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-4211-01	TCGA-32-4211-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366574.2:c.5498T>C	p.Ile1833Thr	p.I1833T	ENST00000366574	NM_001035.2	1833	aTc/aCc	0			1			C	I/T	uc001hyl.1	protein_coding	YES	CCDS55691.1			5498/14904									ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	c.(5497-5499)ATC>ACC			hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75	cardiac muscle ryanodine receptor				ENSP00000355533		37/105									COSM3400512,COSM3400511	37/105	.		ENST00000366574	Transcript	1		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	ENSG00000198626	g.chr1:237777926T>C	10484			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=RYR2_HUMAN&rb=1762&re=1961&var=I1833T	NA	getma.org/?cm=var&var=hg19,1,237777926,T,C&fts=all	I1833T	--	--	1																																			1,1	1		benign(0.021)	p.I1833T	NM_001035	NP_001026			1,1	RYR2_HUMAN	RYR2	HGNC	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN		37	5618	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	UPI0000DD0308	1833			Cytoplasmic (By similarity).|4 X approximate repeats.		SNV	RYR2,missense_variant,p.Ile1833Thr,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Ile1817Thr,ENST00000542537,;RYR2,missense_variant,p.Ile1831Thr,ENST00000360064,;	uc001hyl.1	c.5498T>C	5815/16562	3	3			c.5498T>C						1	SNP	c.(5497-5499)ATC>ACC	1	1			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Broad	cardiac muscle ryanodine receptor			237777926		0.498	ENSG00000198626	13549	g.chr1:237777926T>C	cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding							321.676565	KEEP	51	55	-1	106	103	51	55	-1	328.395251	106	103	0.340067	1	0	0	0	0	1	0	0	0	--	--		0	C				246	GBM-32-4211-TP	p.I1833T	T	ATCATGGGCATCTTTCACAAC	NM_001035	NP_001026	237777926	Q92736	RYR2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5618	+	C	C	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	Missense_Mutation	1833			Cytoplasmic (By similarity).|4 X approximate repeats.			
RYR2	0	broad.mit.edu	GRCh37	1	237632425	237632425	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-41-2573-01	TCGA-41-2573-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366574.2:c.1646C>G	p.Ala549Gly	p.A549G	ENST00000366574	NM_001035.2	549	gCt/gGt	0			1			G	A/G	uc001hyl.1	protein_coding	YES	CCDS55691.1			1646/14904									ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	c.(1645-1647)GCT>GGT			Superfamily_domains:0048280,Pfam_domain:PF01365,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75	cardiac muscle ryanodine receptor				ENSP00000355533		17/105									COSM3400497,COSM3400496	17/105	.		ENST00000366574	Transcript	1		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	ENSG00000198626	g.chr1:237632425C>G	10484			MODERATE		2.65	medium	getma.org/?cm=msa&ty=f&p=RYR2_HUMAN&rb=451&re=655&var=A549G	NA	getma.org/?cm=var&var=hg19,1,237632425,C,G&fts=all	A549G	--	--	1																																			1,1	1		benign(0.015)	p.A549G	NM_001035	NP_001026			1,1	RYR2_HUMAN	RYR2	HGNC	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN		17	1766	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	UPI0000DD0308	549			Cytoplasmic (By similarity).		SNV	RYR2,missense_variant,p.Ala549Gly,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Ala533Gly,ENST00000542537,;RYR2,missense_variant,p.Ala547Gly,ENST00000360064,;MIR4428,upstream_gene_variant,,ENST00000584884,;	uc001hyl.1	c.1646C>G	1963/16562	3	3			c.1646C>G						1	SNP	c.(1645-1647)GCT>GGT	13	13			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Broad	cardiac muscle ryanodine receptor			237632425		0.373	ENSG00000198626	13549	g.chr1:237632425C>G	cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding							32.819494	KEEP	11	7	-1	44	44	11	7	-1	41.932626	44	44	0.158537	1	0	0	0	0	1	0	0	0	--	--		0	G				252	GBM-41-2573-TP	p.A549G	C	AAAAACTGTGCTCAATTTTCT	NM_001035	NP_001026	237632425	Q92736	RYR2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		17	1766	+	G	G	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	Missense_Mutation	549			Cytoplasmic (By similarity).			
RYR2	0	broad.mit.edu	GRCh37	1	237550598	237550598	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-4097-01	TCGA-41-4097-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366574.2:c.594C>T	p.Asn198=	p.N198=	ENST00000366574	NM_001035.2	198	aaC/aaT	0			1			T	N	uc001hyl.1	protein_coding	YES	CCDS55691.1			594/14904						likely_benign			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	c.(592-594)AAC>AAT			Gene3D:2.80.10.50,Pfam_domain:PF08709,PROSITE_profiles:PS50919,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75,SMART_domains:SM00472	cardiac muscle ryanodine receptor				ENSP00000355533		9/105	0.000323		0.000173			1.50E-05	0.00222	0.00206	rs727504676,COSM1340406,COSM3400489	9/105	common_variant		ENST00000366574	Transcript	1		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	ENSG00000198626	g.chr1:237550598C>T	10484			LOW								--	--	1																																			1,1,1	1			p.N198N	NM_001035	NP_001026			0,1,1	RYR2_HUMAN	RYR2	HGNC	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN		9	714	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	UPI0000DD0308	198			Cytoplasmic (By similarity).|MIR 2.		SNV	RYR2,synonymous_variant,p.=,ENST00000366574,NM_001035.2;RYR2,synonymous_variant,p.=,ENST00000542537,;RYR2,synonymous_variant,p.=,ENST00000360064,;	uc001hyl.1	c.594C>T	911/16562	1	1			c.594C>T						1	SNP	c.(592-594)AAC>AAT	12	12			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Broad	cardiac muscle ryanodine receptor			237550598		0.498	ENSG00000198626	13549	g.chr1:237550598C>T	cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding							34.451194	KEEP	11	13	-1	55	94	11	13	-1	46.46395	55	94	0.166667	1	0	0	0	0	0	0	1	0	--	--		0	T				257	GBM-41-4097-TP	p.N198N	C	CTTATGGCAACGGCAGCTTAC	NM_001035	NP_001026	237550598	Q92736	RYR2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		9	714	+	T	T	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	Silent	198			Cytoplasmic (By similarity).|MIR 2.			
RYR2	6262		GRCh37	1	237947838	237947838	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000366574.2:c.12826G>A	p.Val4276Met	p.V4276M	ENST00000366574	NM_001035.2	4276	Gtg/Atg	0																																																																																																																																																																																																																																												
RYR2	6262		GRCh37	1	237632437	237632437	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000366574.2:c.1658G>A	p.Gly553Asp	p.G553D	ENST00000366574	NM_001035.2	553	gGc/gAc	0																																																																																																																																																																																																																																												
RYR2	6262		GRCh37	1	237791219	237791219	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000366574.2:c.6279C>T	p.Asp2093=	p.D2093=	ENST00000366574	NM_001035.2	2093	gaC/gaT	0																																																																																																																																																																																																																																												
RYR3	6263	broad.mit.edu	GRCh37	15	34130001	34130002	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-06-0126-01	TCGA-06-0126-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389232.4:c.11826dup	p.Glu3943ArgfsTer18	p.E3943Rfs*18	ENST00000389232	NM_001036.3	3940	-/A	0			1			A	-/X	uc001zhi.2	protein_coding	YES	CCDS45210.1			11820-11821/14613									ovary(5)|central_nervous_system(4)|lung(1)	10	c.(11818-11823)TCCAAAfs			Superfamily_domains:SSF47473,Gene3D:1.10.238.10,hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715,PROSITE_profiles:PS50222	ryanodine receptor 3				ENSP00000373884		89/104										89/104	.		ENST00000389232	Transcript			cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	ENSG00000198838	g.chr15:34130001_34130002insA	10485	6		HIGH								--	--	1																																		RYR3_uc010bar.2_Frame_Shift_Ins_p.S3935fs		1			p.S3940fs	NM_001036	NP_001027				RYR3_HUMAN	RYR3	HGNC	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)			89	11890_11891	+		all_lung(180;7.18e-09)	UPI0000E5B01A	3940_3941			EF-hand.		insertion	RYR3,frameshift_variant,p.Glu3943ArgfsTer18,ENST00000389232,NM_001036.3;RYR3,frameshift_variant,p.Glu3938ArgfsTer18,ENST00000415757,NM_001243996.1;	uc001zhi.2	c.11820_11821insA	11890-11891/15559	5	5			c.11820_11821insA						15	INS	c.(11818-11823)TCCAAAfs	64	64			ovary(5)|central_nervous_system(4)|lung(1)	10	Broad	ryanodine receptor 3			34130002		0.391	ENSG00000198838	13550	g.chr15:34130001_34130002insA	cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity																				0.32	1	0	0	1	1	0	0	0	0	--	--		0	A			RYR3_uc010bar.2_Frame_Shift_Ins_p.S3935fs	13	GBM-06-0126-TP	p.S3940fs	-	GAATTATCTCCAAAAAAGAATT	NM_001036	NP_001027	34130001	Q15413	RYR3_HUMAN	0		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	89	11890_11891	+	A	A		all_lung(180;7.18e-09)	Frame_Shift_Ins	3940_3941			EF-hand.			
RYR3	6263	broad.mit.edu	GRCh37	15	33895522	33895522	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389232.4:c.2121C>T	p.Asp707=	p.D707=	ENST00000389232	NM_001036.3	707	gaC/gaT	0	T:0		1			T	D	uc001zhi.2	protein_coding	YES	CCDS45210.1			2121/14613								p.D707D(1)	ovary(5)|central_nervous_system(4)|lung(1)	10	c.(2119-2121)GAC>GAT			Prints_domain:PR00795,Superfamily_domains:SSF49899,SMART_domains:SM00449,Pfam_domain:PF00622,hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715,PROSITE_profiles:PS50188	ryanodine receptor 3			T:0.0001	ENSP00000373884		18/104	2.48E-05			0.000116		3.03E-05			rs369220734,COSM42760	18/104	.		ENST00000389232	Transcript			cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	ENSG00000198838	g.chr15:33895522C>T	10485			LOW								--	--	1																																		RYR3_uc010bar.2_Silent_p.D707D	0,1	1			p.D707D	NM_001036	NP_001027			0,1	RYR3_HUMAN	RYR3	HGNC	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)			18	2191	+		all_lung(180;7.18e-09)	UPI0000E5B01A	707			Cytoplasmic (By similarity).|B30.2/SPRY 1.		SNV	RYR3,synonymous_variant,p.=,ENST00000389232,NM_001036.3;RYR3,synonymous_variant,p.=,ENST00000415757,NM_001243996.1;	uc001zhi.2	c.2121C>T	2191/15559	2	2			c.2121C>T						15	SNP	c.(2119-2121)GAC>GAT	44	44		p.D707D(1)	ovary(5)|central_nervous_system(4)|lung(1)	10	Broad	ryanodine receptor 3			33895522		0.537	ENSG00000198838	13550	g.chr15:33895522C>T	cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity							409.531332	KEEP	76	73	-1	108	109	76	73	-1	412.271505	108	109	0.403561	1	0	0	0	0	0	0	1	0	--	--		0	T			RYR3_uc010bar.2_Silent_p.D707D	18	GBM-06-0137-TP	p.D707D	C	GTGTTGGTGACGACCTGTACT	NM_001036	NP_001027	33895522	Q15413	RYR3_HUMAN	0		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	18	2191	+	T	T		all_lung(180;7.18e-09)	Silent	707			Cytoplasmic (By similarity).|B30.2/SPRY 1.			
RYR3	6263	broad.mit.edu	GRCh37	15	34077951	34077951	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0152-01	TCGA-06-0152-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389232.4:c.9357G>T	p.Glu3119Asp	p.E3119D	ENST00000389232	NM_001036.3	3119	gaG/gaT	0			1			T	E/D	uc001zhi.2	protein_coding	YES	CCDS45210.1			9357/14613									ovary(5)|central_nervous_system(4)|lung(1)	10	c.(9355-9357)GAG>GAT			hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715	ryanodine receptor 3				ENSP00000373884		66/104									COSM3401681	66/104	.		ENST00000389232	Transcript			cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	ENSG00000198838	g.chr15:34077951G>T	10485			MODERATE		2.38	medium	getma.org/?cm=msa&ty=f&p=RYR3_HUMAN&rb=3004&re=3203&var=E3119D	NA	getma.org/?cm=var&var=hg19,15,34077951,G,T&fts=all	E3119D	--	--	1																																		RYR3_uc010bar.2_Missense_Mutation_p.E3119D	1	1		benign(0.021)	p.E3119D	NM_001036	NP_001027			1	RYR3_HUMAN	RYR3	HGNC	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)			66	9427	+		all_lung(180;7.18e-09)	UPI0000E5B01A	3119					SNV	RYR3,missense_variant,p.Glu3119Asp,ENST00000389232,NM_001036.3;RYR3,missense_variant,p.Glu3119Asp,ENST00000415757,NM_001243996.1;	uc001zhi.2	c.9357G>T	9427/15559	2	2			c.9357G>T						15	SNP	c.(9355-9357)GAG>GAT	21	21			ovary(5)|central_nervous_system(4)|lung(1)	10	Broad	ryanodine receptor 3			34077951		0.567	ENSG00000198838	13550	g.chr15:34077951G>T	cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity							61.46933	KEEP	19	16	0.542857143	97	69	19	16	0.542857143	81.484365	97	69	0.167539	1	0	0	0	0	1	0	0	0	--	--		0	T			RYR3_uc010bar.2_Missense_Mutation_p.E3119D	25	GBM-06-0152-TP	p.E3119D	G	ACCTGGCCGAGTCAGGGGCCC	NM_001036	NP_001027	34077951	Q15413	RYR3_HUMAN	0		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	66	9427	+	T	T		all_lung(180;7.18e-09)	Missense_Mutation	3119						
RYR3	6263	broad.mit.edu	GRCh37	15	34130561	34130561	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01	TCGA-06-0219-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389232.4:c.12380C>T	p.Ala4127Val	p.A4127V	ENST00000389232	NM_001036.3	4127	gCg/gTg	0			1			T	A/V	uc001zhi.2	protein_coding	YES	CCDS45210.1			12380/14613									ovary(5)|central_nervous_system(4)|lung(1)	10	c.(12379-12381)GCG>GTG			hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715	ryanodine receptor 3				ENSP00000373884		89/104	1.66E-05		8.64E-05			1.50E-05			rs749374315,COSM1493398	89/104	.		ENST00000389232	Transcript			cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	ENSG00000198838	g.chr15:34130561C>T	10485			MODERATE		1.28	low	getma.org/?cm=msa&ty=f&p=RYR3_HUMAN&rb=4056&re=4233&var=A4127V	NA	getma.org/?cm=var&var=hg19,15,34130561,C,T&fts=all	A4127V	--	--	1																																		RYR3_uc010bar.2_Missense_Mutation_p.A4122V	0,1	1		benign(0.001)	p.A4127V	NM_001036	NP_001027			0,1	RYR3_HUMAN	RYR3	HGNC	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)			89	12450	+		all_lung(180;7.18e-09)	UPI0000E5B01A	4127					SNV	RYR3,missense_variant,p.Ala4127Val,ENST00000389232,NM_001036.3;RYR3,missense_variant,p.Ala4122Val,ENST00000415757,NM_001243996.1;	uc001zhi.2	c.12380C>T	12450/15559	1	1			c.12380C>T						15	SNP	c.(12379-12381)GCG>GTG	4	4			ovary(5)|central_nervous_system(4)|lung(1)	10	Broad	ryanodine receptor 3			34130561		0.483	ENSG00000198838	13550	g.chr15:34130561C>T	cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity							-61.300354	KEEP	1	6	-1	169	145	1	6	-1	10.103714	169	145	0.021505	1	0	0	0	0	1	0	0	0	--	--		0	T			RYR3_uc010bar.2_Missense_Mutation_p.A4122V	52	GBM-06-0219-TP	p.A4127V	C	TTAGAAATTGCGGGTGAAGAG	NM_001036	NP_001027	34130561	Q15413	RYR3_HUMAN	0		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	89	12450	+	T	T		all_lung(180;7.18e-09)	Missense_Mutation	4127						
RYR3	6263	broad.mit.edu	GRCh37	15	34137199	34137199	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-5417-01	TCGA-06-5417-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389232.4:c.13433G>T	p.Arg4478Leu	p.R4478L	ENST00000389232	NM_001036.3	4478	cGt/cTt	0			1			T	R/L	uc001zhi.2	protein_coding	YES	CCDS45210.1			13433/14613									ovary(5)|central_nervous_system(4)|lung(1)	10	c.(13432-13434)CGT>CTT			Pfam_domain:PF06459,hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715	ryanodine receptor 3				ENSP00000373884		93/104									COSM3747970	93/104	.		ENST00000389232	Transcript			cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	ENSG00000198838	g.chr15:34137199G>T	10485			MODERATE		2.2	medium	getma.org/?cm=msa&ty=f&p=RYR3_HUMAN&rb=4234&re=4504&var=R4478L	NA	getma.org/?cm=var&var=hg19,15,34137199,G,T&fts=all	R4478L	--	--	1																																		RYR3_uc010bar.2_Missense_Mutation_p.R4473L	1	1		benign(0.087)	p.R4478L	NM_001036	NP_001027			1	RYR3_HUMAN	RYR3	HGNC	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)			93	13503	+		all_lung(180;7.18e-09)	UPI0000E5B01A	4478					SNV	RYR3,missense_variant,p.Arg4478Leu,ENST00000389232,NM_001036.3;RYR3,missense_variant,p.Arg4473Leu,ENST00000415757,NM_001243996.1;RYR3,upstream_gene_variant,,ENST00000559917,;RYR3,upstream_gene_variant,,ENST00000559333,;	uc001zhi.2	c.13433G>T	13503/15559	1	1			c.13433G>T						15	SNP	c.(13432-13434)CGT>CTT	13	13			ovary(5)|central_nervous_system(4)|lung(1)	10	Broad	ryanodine receptor 3			34137199		0.502	ENSG00000198838	13550	g.chr15:34137199G>T	cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity							272.169188	KEEP	40	50	0.444444444	62	43	40	50	0.444444444	272.315833	62	43	0.468571	1	0	0	0	0	1	0	0	0	--	--		0	T			RYR3_uc010bar.2_Missense_Mutation_p.R4473L	99	GBM-06-5417-TP	p.R4478L	G	CCAACCCTGCGTGCCCTGGCC	NM_001036	NP_001027	34137199	Q15413	RYR3_HUMAN	0		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	93	13503	+	T	T		all_lung(180;7.18e-09)	Missense_Mutation	4478						
RYR3	0	broad.mit.edu	GRCh37	15	34049760	34049760	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01	TCGA-12-3652-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389232.4:c.8668G>A	p.Gly2890Arg	p.G2890R	ENST00000389232	NM_001036.3	2890	Gga/Aga	0	A:0		1			A	G/R	uc001zhi.2	protein_coding	YES	CCDS45210.1			8668/14613									ovary(5)|central_nervous_system(4)|lung(1)	10	c.(8668-8670)GGA>AGA			hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715	ryanodine receptor 3			A:0.0001	ENSP00000373884		60/104	7.45E-05			0.0003		0.000134			rs372740672,COSM2267604	60/104	.		ENST00000389232	Transcript			cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	ENSG00000198838	g.chr15:34049760G>A	10485			MODERATE		2.435	medium	getma.org/?cm=msa&ty=f&p=RYR3_HUMAN&rb=2804&re=3003&var=G2890R	NA	getma.org/?cm=var&var=hg19,15,34049760,G,A&fts=all	G2890R	--	--	1																																		RYR3_uc010bar.2_Missense_Mutation_p.G2890R	0,1	1		probably_damaging(0.994)	p.G2890R	NM_001036	NP_001027			0,1	RYR3_HUMAN	RYR3	HGNC	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)			60	8738	+		all_lung(180;7.18e-09)	UPI0000E5B01A	2890			Cytoplasmic (By similarity).		SNV	RYR3,missense_variant,p.Gly2890Arg,ENST00000389232,NM_001036.3;RYR3,missense_variant,p.Gly2890Arg,ENST00000415757,NM_001243996.1;	uc001zhi.2	c.8668G>A	8738/15559	2	2			c.8668G>A						15	SNP	c.(8668-8670)GGA>AGA	41	41			ovary(5)|central_nervous_system(4)|lung(1)	10	Broad	ryanodine receptor 3			34049760		0.512	ENSG00000198838	13550	g.chr15:34049760G>A	cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity							30.374425	KEEP	4	5	-1	5	6	4	5	-1	30.385831	5	6	0.473684	1	0	0	0	0	1	0	0	0	--	--		0	A			RYR3_uc010bar.2_Missense_Mutation_p.G2890R	127	GBM-12-3652-TP	p.G2890R	G	TAGCAGCAGCGGATATGCCTC	NM_001036	NP_001027	34049760	Q15413	RYR3_HUMAN	0		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	60	8738	+	A	A		all_lung(180;7.18e-09)	Missense_Mutation	2890			Cytoplasmic (By similarity).			
RYR3	0	broad.mit.edu	GRCh37	15	33999198	33999198	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-26-5133-01	TCGA-26-5133-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389232.4:c.6562A>G	p.Asn2188Asp	p.N2188D	ENST00000389232	NM_001036.3	2188	Aac/Gac	0			1			G	N/D	uc001zhi.2	protein_coding	YES	CCDS45210.1			6562/14613									ovary(5)|central_nervous_system(4)|lung(1)	10	c.(6562-6564)AAC>GAC			Pfam_domain:PF01365,hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715	ryanodine receptor 3				ENSP00000373884		43/104	6.60E-05					0.00011			rs779445082,COSM1372414	43/104	.		ENST00000389232	Transcript			cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	ENSG00000198838	g.chr15:33999198A>G	10485			MODERATE		0.205	neutral	getma.org/?cm=msa&ty=f&p=RYR3_HUMAN&rb=2019&re=2229&var=N2188D	NA	getma.org/?cm=var&var=hg19,15,33999198,A,G&fts=all	N2188D	--	--	1																																		RYR3_uc010bar.2_Missense_Mutation_p.N2188D	0,1	1		probably_damaging(1)	p.N2188D	NM_001036	NP_001027			0,1	RYR3_HUMAN	RYR3	HGNC	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)			43	6632	+		all_lung(180;7.18e-09)	UPI0000E5B01A	2188			4 X approximate repeats.|Cytoplasmic (By similarity).		SNV	RYR3,missense_variant,p.Asn2188Asp,ENST00000389232,NM_001036.3;RYR3,missense_variant,p.Asn2188Asp,ENST00000415757,NM_001243996.1;	uc001zhi.2	c.6562A>G	6632/15559	3	3			c.6562A>G						15	SNP	c.(6562-6564)AAC>GAC	16	16			ovary(5)|central_nervous_system(4)|lung(1)	10	Broad	ryanodine receptor 3			33999198		0.517	ENSG00000198838	13550	g.chr15:33999198A>G	cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity							0.91836	KEEP	7	6	-1	17	24	7	6	-1	6.570302	17	24	0.139535	1	0	0	0	0	1	0	0	0	--	--		0	G			RYR3_uc010bar.2_Missense_Mutation_p.N2188D	182	GBM-26-5133-TP	p.N2188D	A	TGTCGGCTGGAACCCCATTGA	NM_001036	NP_001027	33999198	Q15413	RYR3_HUMAN	0		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	43	6632	+	G	G		all_lung(180;7.18e-09)	Missense_Mutation	2188			4 X approximate repeats.|Cytoplasmic (By similarity).			
RYR3	0	broad.mit.edu	GRCh37	15	33855071	33855071	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-28-2502-01	TCGA-28-2502-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389232.4:c.1006C>T	p.Arg336Ter	p.R336*	ENST00000389232	NM_001036.3	336	Cga/Tga	0	T:0.0003		1			T	R/*	uc001zhi.2	protein_coding	YES	CCDS45210.1			1006/14613									ovary(5)|central_nervous_system(4)|lung(1)	10	c.(1006-1008)CGA>TGA			Superfamily_domains:SSF82109,SMART_domains:SM00472,Gene3D:2.80.10.50,Pfam_domain:PF02815,hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715	ryanodine receptor 3			T:0	ENSP00000373884		11/104									rs370675640,COSM3401674	11/104	.		ENST00000389232	Transcript			cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	ENSG00000198838	g.chr15:33855071C>T	10485			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,15,33855071,C,T&fts=all	R336*	--	--	1																																		RYR3_uc010bar.2_Nonsense_Mutation_p.R336*	0,1	1			p.R336*	NM_001036	NP_001027			0,1	RYR3_HUMAN	RYR3	HGNC	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)			11	1076	+		all_lung(180;7.18e-09)	UPI0000E5B01A	336			Cytoplasmic (By similarity).		SNV	RYR3,stop_gained,p.Arg336Ter,ENST00000389232,NM_001036.3;RYR3,stop_gained,p.Arg336Ter,ENST00000415757,NM_001243996.1;	uc001zhi.2	c.1006C>T	1076/15559	5	2			c.1006C>T						15	SNP	c.(1006-1008)CGA>TGA	47	47			ovary(5)|central_nervous_system(4)|lung(1)	10	Broad	ryanodine receptor 3			33855071		0.398	ENSG00000198838	13550	g.chr15:33855071C>T	cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity							78.586716	KEEP	22	12	-1	34	56	22	12	-1	83.652182	34	56	0.278261	1	0	0	0	0	0	1	0	0	--	--		0	T			RYR3_uc010bar.2_Nonsense_Mutation_p.R336*	210	GBM-28-2502-TP	p.R336*	C	CAGTCACAAGCGAGACATAGA	NM_001036	NP_001027	33855071	Q15413	RYR3_HUMAN	0		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	11	1076	+	T	T		all_lung(180;7.18e-09)	Nonsense_Mutation	336			Cytoplasmic (By similarity).			
RYR3	0	broad.mit.edu	GRCh37	15	33895352	33895352	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389232.4:c.1951G>A	p.Ala651Thr	p.A651T	ENST00000389232	NM_001036.3	651	Gcg/Acg	0			1			A	A/T	uc001zhi.2	protein_coding	YES	CCDS45210.1			1951/14613									ovary(5)|central_nervous_system(4)|lung(1)	10	c.(1951-1953)GCG>ACG			hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715,PROSITE_profiles:PS50188	ryanodine receptor 3				ENSP00000373884		18/104	1.65E-05					1.50E-05		6.07E-05	rs764639699,COSM3401676	18/104	.		ENST00000389232	Transcript			cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	ENSG00000198838	g.chr15:33895352G>A	10485			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=RYR3_HUMAN&rb=585&re=796&var=A651T	NA	getma.org/?cm=var&var=hg19,15,33895352,G,A&fts=all	A651T	--	--	1																																		RYR3_uc010bar.2_Missense_Mutation_p.A651T	0,1	1		benign(0.23)	p.A651T	NM_001036	NP_001027			0,1	RYR3_HUMAN	RYR3	HGNC	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)			18	2021	+		all_lung(180;7.18e-09)	UPI0000E5B01A	651			Cytoplasmic (By similarity).|B30.2/SPRY 1.		SNV	RYR3,missense_variant,p.Ala651Thr,ENST00000389232,NM_001036.3;RYR3,missense_variant,p.Ala651Thr,ENST00000415757,NM_001243996.1;	uc001zhi.2	c.1951G>A	2021/15559	1	1			c.1951G>A						15	SNP	c.(1951-1953)GCG>ACG	49	49			ovary(5)|central_nervous_system(4)|lung(1)	10	Broad	ryanodine receptor 3			33895352		0.527	ENSG00000198838	13550	g.chr15:33895352G>A	cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity							153.404369	KEEP	36	27	-1	76	59	36	27	-1	160.047915	76	59	0.301587	1	0	0	0	0	1	0	0	0	--	--		0	A			RYR3_uc010bar.2_Missense_Mutation_p.A651T	232	GBM-32-1982-TP	p.A651T	G	CCTGGGAGTCGCGGAGGGCTC	NM_001036	NP_001027	33895352	Q15413	RYR3_HUMAN	0		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	18	2021	+	A	A		all_lung(180;7.18e-09)	Missense_Mutation	651			Cytoplasmic (By similarity).|B30.2/SPRY 1.			
RYR3	0	broad.mit.edu	GRCh37	15	33952594	33952594	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-32-1991-01	TCGA-32-1991-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389232.4:c.4592T>A	p.Met1531Lys	p.M1531K	ENST00000389232	NM_001036.3	1531	aTg/aAg	0			1			A	M/K	uc001zhi.2	protein_coding	YES	CCDS45210.1			4592/14613									ovary(5)|central_nervous_system(4)|lung(1)	10	c.(4591-4593)ATG>AAG			hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715	ryanodine receptor 3				ENSP00000373884		34/104									COSM3401679	34/104	.		ENST00000389232	Transcript			cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	ENSG00000198838	g.chr15:33952594T>A	10485			MODERATE		2.515	medium	getma.org/?cm=msa&ty=f&p=RYR3_HUMAN&rb=1466&re=1665&var=M1531K	NA	getma.org/?cm=var&var=hg19,15,33952594,T,A&fts=all	M1531K	--	--	1																																		RYR3_uc010bar.2_Missense_Mutation_p.M1531K	1	1		benign(0.119)	p.M1531K	NM_001036	NP_001027			1	RYR3_HUMAN	RYR3	HGNC	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)			34	4662	+		all_lung(180;7.18e-09)	UPI0000E5B01A	1531			4 X approximate repeats.|Cytoplasmic (By similarity).		SNV	RYR3,missense_variant,p.Met1531Lys,ENST00000389232,NM_001036.3;RYR3,missense_variant,p.Met1531Lys,ENST00000415757,NM_001243996.1;	uc001zhi.2	c.4592T>A	4662/15559	1	1			c.4592T>A						15	SNP	c.(4591-4593)ATG>AAG	62	62			ovary(5)|central_nervous_system(4)|lung(1)	10	Broad	ryanodine receptor 3			33952594		0.672	ENSG00000198838	13550	g.chr15:33952594T>A	cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity							31.875437	KEEP	1	8	-1	5	6	1	8	-1	31.875437	5	6	0.5	1	0	0	0	0	1	0	0	0	--	--		0	A			RYR3_uc010bar.2_Missense_Mutation_p.M1531K	234	GBM-32-1991-TP	p.M1531K	T	CCCCTGCAGATGATGGCGCTC	NM_001036	NP_001027	33952594	Q15413	RYR3_HUMAN	0		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	34	4662	+	A	A		all_lung(180;7.18e-09)	Missense_Mutation	1531			4 X approximate repeats.|Cytoplasmic (By similarity).			
RYR3	0	broad.mit.edu	GRCh37	15	33822868	33822868	+	splice_donor_variant	Splice_Site	SNP	G	G	A			TCGA-41-2573-01	TCGA-41-2573-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389232.4:c.354+1G>A		p.X118_splice	ENST00000389232	NM_001036.3			0			1			A		uc001zhi.2	protein_coding	YES	CCDS45210.1			354/14613									ovary(5)|central_nervous_system(4)|lung(1)	10	c.e4+1				ryanodine receptor 3				ENSP00000373884											COSM3401673		.		ENST00000389232	Transcript			cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	ENSG00000198838	g.chr15:33822868G>A	10485			HIGH	4/103							--	--	1																																		RYR3_uc010bar.2_Splice_Site_p.M118_splice	1	1			p.M118_splice	NM_001036	NP_001027			1	RYR3_HUMAN	RYR3	HGNC	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)			4	424	+		all_lung(180;7.18e-09)	UPI0000E5B01A						SNV	RYR3,splice_donor_variant,,ENST00000389232,NM_001036.3;RYR3,splice_donor_variant,,ENST00000415757,NM_001243996.1;	uc001zhi.2	c.354_splice	-/15559	5	2			c.354_splice						15	SNP	c.e4+1	36	36			ovary(5)|central_nervous_system(4)|lung(1)	10	Broad	ryanodine receptor 3			33822868		0.498	ENSG00000198838	13550	g.chr15:33822868G>A	cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity							16.306806	KEEP	4	4	-1	21	7	4	4	-1	18.639937	21	7	0.21875	1	0	0	0	0	0	0	0	1	--	--		0	A			RYR3_uc010bar.2_Splice_Site_p.M118_splice	252	GBM-41-2573-TP	p.M118_splice	G	CAGCGGAATGGTAAGCAGCTC	NM_001036	NP_001027	33822868	Q15413	RYR3_HUMAN	0		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	4	424	+	A	A		all_lung(180;7.18e-09)	Splice_Site							
RYR3	6263		GRCh37	15	34105755	34105755	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0240-01	TCGA-06-0240-01																				ENST00000389232.4:c.10477A>G	p.Met3493Val	p.M3493V	ENST00000389232	NM_001036.3	3493	Atg/Gtg	0																																																																																																																																																																																																																																												
S100A14	57402		GRCh37	1	153587428	153587428	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000368702.1:c.248G>C	p.Ser83Thr	p.S83T	ENST00000368702		83	aGt/aCt	0																																																																																																																																																																																																																																												
S100A7A	0	broad.mit.edu	GRCh37	1	153390660	153390660	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0789-01	TCGA-14-0789-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329256.2:c.102G>A	p.Thr34=	p.T34=	ENST00000329256		34	acG/acA	0	A:0	A:0	1	A:0		A	T	uc001fbt.1	protein_coding		CCDS30872.1			102/306									skin(1)	1	c.(100-102)ACG>ACA			Gene3D:1.10.238.10,Pfam_domain:PF01023,hmmpanther:PTHR11639,hmmpanther:PTHR11639:SF64,Superfamily_domains:SSF47473	S100 calcium binding protein A7-like 1		A:0	A:0.0001	ENSP00000329008	A:0.001	2-Jan	0.000107				0.000151	0.00015		0.000121	rs370692845,COSM3399763	2-Jan	.		ENST00000329256	Transcript		A:0.0002		cytoplasm	calcium ion binding	ENSG00000184330	g.chr1:153390660G>A	21657			LOW								--	--	1																																			0,1				p.T34T	NM_176823	NP_789793	A:0		0,1	S1A7A_HUMAN	S100A7A	HGNC	Q86SG5	S1A7A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)				2	159	+	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		UPI000000D89D	34			EF-hand 1.		SNV	S100A7A,synonymous_variant,p.=,ENST00000368729,NM_176823.3;S100A7A,synonymous_variant,p.=,ENST00000329256,;S100A7A,synonymous_variant,p.=,ENST00000368728,;	uc001fbt.1	c.102G>A	241/491	2	2			c.102G>A						1	SNP	c.(100-102)ACG>ACA	48	48			skin(1)	1	Broad	S100 calcium binding protein A7-like 1			153390660		0.483	ENSG00000184330	13564	g.chr1:153390660G>A		cytoplasm	calcium ion binding							96.824923	KEEP	42	23	-1	111	128	42	23	-1	118.154148	111	128	0.189873	1	0	0	0	0	0	0	1	0	--	--		0	A				136	GBM-14-0789-TP	p.T34T	G	GCCTGCTGACGATGATGAAGG	NM_176823	NP_789793	153390660	Q86SG5	S1A7A_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.171)		2	159	+	A	A	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		Silent	34			EF-hand 1.			
S100A7A	0	broad.mit.edu	GRCh37	1	153391619	153391619	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T			TCGA-14-3476-01	TCGA-14-3476-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329256.2:c.142-2A>T		p.X48_splice	ENST00000329256				0			1			T		uc001fbt.1	protein_coding		CCDS30872.1			142/306									skin(1)	1	c.e3-2				S100 calcium binding protein A7-like 1				ENSP00000329008											COSM3399764		.		ENST00000329256	Transcript				cytoplasm	calcium ion binding	ENSG00000184330	g.chr1:153391619A>T	21657			HIGH	1-Jan							--	--	1																																			1				p.D48_splice	NM_176823	NP_789793			1	S1A7A_HUMAN	S100A7A	HGNC	Q86SG5	S1A7A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)				3	199	+	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		UPI000000D89D						SNV	S100A7A,splice_acceptor_variant,,ENST00000368729,NM_176823.3;S100A7A,splice_acceptor_variant,,ENST00000329256,;S100A7A,splice_acceptor_variant,,ENST00000368728,;	uc001fbt.1	c.142_splice	-/491	5	2			c.142_splice						1	SNP	c.e3-2	42	42			skin(1)	1	Broad	S100 calcium binding protein A7-like 1			153391619		0.408	ENSG00000184330	13564	g.chr1:153391619A>T		cytoplasm	calcium ion binding							-16.864329	KEEP	1	2	-1	51	53	1	2	-1	7.381678	51	53	0.03	1	0	0	0	0	0	0	0	1	--	--		0	T				151	GBM-14-3476-TP	p.D48_splice	A	TTCTCTTCACAGGACAAAAAG	NM_176823	NP_789793	153391619	Q86SG5	S1A7A_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.171)		3	199	+	T	T	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		Splice_Site							
S100A7L2	0	broad.mit.edu	GRCh37	1	153409549	153409549	+	synonymous_variant	Silent	SNP	G	G	A	rs140750285		TCGA-87-5896-01	TCGA-87-5896-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368725.2:c.324C>T	p.Ser108=	p.S108=	ENST00000368725	NM_001045479.1	108	tcC/tcT	0		A:0	1	A:0		A	S	uc010pdx.1	protein_coding	YES				324/339									ovary(1)	1	c.(322-324)TCC>TCT			hmmpanther:PTHR11639:SF44,hmmpanther:PTHR11639,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	S100 calcium binding protein A7-like 2		A:0		ENSP00000357714	A:0	3-Mar	3.29E-05	9.62E-05				1.50E-05		0.000122	rs568882807,COSM3399765,COSM3399766	3-Mar	.		ENST00000368725	Transcript		A:0.0002				ENSG00000197364	g.chr1:153409549G>A	21655			LOW								--	--	1																																			0,1,1	1			p.S108S	NM_001045479	NP_001038944	A:0.001		0,1,1	S1A7B_HUMAN	S100A7L2	HGNC			LUSC - Lung squamous cell carcinoma(543;0.171)				3	402	-	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		UPI00017994F1						SNV	S100A7L2,synonymous_variant,p.=,ENST00000368725,NM_001045479.1;	uc010pdx.1	c.324C>T	324/339	2	2			c.324C>T						1	SNP	c.(322-324)TCC>TCT	35	35			ovary(1)	1	Broad	S100 calcium binding protein A7-like 2			153409549		0.488	ENSG00000197364	13565	g.chr1:153409549G>A										304.899681	KEEP	51	61	-1	66	94	51	61	-1	306.604572	66	94	0.408511	1	0	0	0	0	0	0	1	0	--	--		0	A				291	GBM-87-5896-TP	p.S108S	G	GGCTTCCCCCGGAACAGGGTG	NM_001045479	NP_001038944	153409549			0	LUSC - Lung squamous cell carcinoma(543;0.171)		3	402	-	A	A	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		Silent							
S100A8	6279	broad.mit.edu	GRCh37	1	153362715	153362715	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-5414-01	TCGA-06-5414-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368733.3:c.146A>G	p.Lys49Arg	p.K49R	ENST00000368733	NM_002964.4	49	aAg/aGg	0			1			C	K/R	uc001fbs.2	protein_coding		CCDS1038.1			146/282										0	c.(145-147)AAG>AGG			PROSITE_profiles:PS50222,hmmpanther:PTHR11639:SF5,hmmpanther:PTHR11639,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	S100 calcium-binding protein A8				ENSP00000357721		3-Mar									COSM360700	3-Mar	.		ENST00000368732	Transcript			chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding	ENSG00000143546	g.chr1:153362715T>C	10498			MODERATE								--	--	1																																			1			benign(0.055)	p.K49R	NM_002964	NP_002955		tolerated(0.14)	1	S10A8_HUMAN	S100A8	HGNC	P05109	S10A8_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)				3	201	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		UPI000002C6C3	49			EF-hand 2.		SNV	S100A8,missense_variant,p.Lys49Arg,ENST00000368733,NM_002964.4;S100A8,missense_variant,p.Lys49Arg,ENST00000368732,;S100A8,non_coding_transcript_exon_variant,,ENST00000477801,;	uc001fbs.2	c.146A>G	288/495	3	3			c.146A>G						1	SNP	c.(145-147)AAG>AGG	7	7				0	Broad	S100 calcium-binding protein A8			153362715		0.507	ENSG00000143546	13566	g.chr1:153362715T>C	chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding							-60.876617	KEEP	5	0	-1	125	144	5	0	-1	6.393737	125	144	0.012146	1	0	0	0	0	1	0	0	0	--	--		0	C				97	GBM-06-5414-TP	p.K49R	T	GTCTGCACCCTTTTTCTGTCA	NM_002964	NP_002955	153362715	P05109	S10A8_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.171)		3	201	-	C	C	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		Missense_Mutation	49			EF-hand 2.			
S1PR1	0	broad.mit.edu	GRCh37	1	101705315	101705317	+	inframe_deletion	In_Frame_Del	DEL	ATT	ATT	-			TCGA-14-0790-01	TCGA-14-0790-01	ATT	ATT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305352.6:c.777_779delTAT	p.Ile260del	p.I260del	ENST00000305352	NM_001400.4	259	ATT/-	0			1			-	I/-	uc001dud.2	protein_coding	YES	CCDS777.1			775-777/1149									ovary(2)|lung(1)	3	c.(775-777)ATTdel			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF16,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	sphingosine-1-phosphate receptor 1				ENSP00000305416		2-Feb										2-Feb	.		ENST00000305352	Transcript			cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	ENSG00000170989	g.chr1:101705315_101705317delATT	3165	2		MODERATE								--	--	1																																		S1PR1_uc009weg.2_In_Frame_Del_p.I260del		1			p.I260del	NM_001400	NP_001391				S1PR1_HUMAN	S1PR1	HGNC	P21453	S1PR1_HUMAN			Q7L853_HUMAN		2	1289_1291	+			UPI0000050421	260			Helical; Name=6; (By similarity).		deletion	S1PR1,inframe_deletion,p.Ile260del,ENST00000305352,NM_001400.4;RP4-575N6.5,upstream_gene_variant,,ENST00000561748,;RP4-575N6.4,upstream_gene_variant,,ENST00000432195,;S1PR1,downstream_gene_variant,,ENST00000475821,;S1PR1,downstream_gene_variant,,ENST00000475289,;	uc001dud.2	c.775_777delATT	1150-1152/2909	5	5			c.775_777delATT						1	DEL	c.(775-777)ATTdel	7	7			ovary(2)|lung(1)	3	Broad	sphingosine-1-phosphate receptor 1			101705317		0.591	ENSG00000170989	13573	g.chr1:101705315_101705317delATT	cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity																				0.41	1	1	0	1	0	0	0	0	0	--	--		0	-			S1PR1_uc009weg.2_In_Frame_Del_p.I260del	137	GBM-14-0790-TP	p.I260del	ATT	CAAGACCGTAATTATCGTCCTGA	NM_001400	NP_001391	101705315	P21453	S1PR1_HUMAN	0			2	1289_1291	+	-	-			In_Frame_Del	260			Helical; Name=6; (By similarity).			
S1PR2	9294		GRCh37	19	10335447	10335447	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000590320.1:c.135C>T	p.Cys45=	p.C45=	ENST00000590320	NM_004230.3	45	tgC/tgT	0																																																																																																																																																																																																																																												
S1PR3	0	broad.mit.edu	GRCh37	9	91616623	91616623	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01	TCGA-15-0742-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358157.2:c.508G>A	p.Ala170Thr	p.A170T	ENST00000358157	NM_005226.3	170	Gcc/Acc	0			1			A	A/T	uc004aqe.2	protein_coding		CCDS6680.1			508/1137								p.A170A(1)	ovary(2)|lung(1)|central_nervous_system(1)|skin(1)	5	c.(508-510)GCC>ACC			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF24,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	sphingosine-1-phosphate receptor 3				ENSP00000350878		2-Feb	1.65E-05					1.50E-05		6.06E-05	rs746355071,COSM3413803	2-Feb	.		ENST00000358157	Transcript			anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	ENSG00000213694	g.chr9:91616623G>A	3167			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=S1PR3_HUMAN&rb=56&re=298&var=A170T	getma.org/pdb.php?prot=S1PR3_HUMAN&from=56&to=298&var=A170T	getma.org/?cm=var&var=hg19,9,91616623,G,A&fts=all	A170T	--	--	1																																OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		0,1			probably_damaging(0.916)	p.A170T	NM_005226	NP_005217		tolerated(0.09)	0,1	S1PR3_HUMAN	S1PR3	HGNC	Q99500	S1PR3_HUMAN					2	904	+			UPI0000140B93	170			Helical; Name=4; (By similarity).		SNV	S1PR3,missense_variant,p.Ala170Thr,ENST00000375846,;S1PR3,missense_variant,p.Ala170Thr,ENST00000358157,NM_005226.3;	uc004aqe.2	c.508G>A	904/4206	2	2			c.508G>A						9	SNP	c.(508-510)GCC>ACC	35	35		p.A170A(1)	ovary(2)|lung(1)|central_nervous_system(1)|skin(1)	5	Broad	sphingosine-1-phosphate receptor 3			91616623		0.557	ENSG00000213694	13575	g.chr9:91616623G>A	anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity							186.433027	KEEP	36	29	-1	40	22	36	29	-1	186.466519	40	22	0.516949	1	0	0	0	0	1	0	0	0	--	--		0	A	OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		153	GBM-15-0742-TP	p.A170T	G	CACGCTGGGCGCCCTGCCCAT	NM_005226	NP_005217	91616623	Q99500	S1PR3_HUMAN	0			2	904	+	A	A			Missense_Mutation	170			Helical; Name=4; (By similarity).			
S1PR4	0	broad.mit.edu	GRCh37	19	3179828	3179828	+	synonymous_variant	Silent	SNP	C	C	T	rs147906636	byFrequency	TCGA-26-5134-01	TCGA-26-5134-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000246115.3:c.1038C>T	p.Ser346=	p.S346=	ENST00000246115	NM_003775.3	346	tcC/tcT	0	T:0.0002	T:0	1	T:0.0014		T	S	uc002lxg.2	protein_coding	YES	CCDS12105.1			1038/1155									lung(1)|skin(1)	2	c.(1036-1038)TCC>TCT			Prints_domain:PR01526,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF13	sphingosine-1-phosphate receptor 4 precursor		T:0.001	T:0.0011	ENSP00000246115	T:0	1-Jan	0.00115	0.000111	0.00316	0.000119	0.000909	0.00152		7.62E-05	rs147906636,COSM2157019,COSM2157020	1-Jan	common_variant		ENST00000246115	Transcript		T:0.0004	activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	ENSG00000125910	g.chr19:3179828C>T	3170			LOW								--	--	1																																			0,1,1	1			p.S346S	NM_003775	NP_003766	T:0		0,1,1	S1PR4_HUMAN	S1PR4	HGNC	O95977	S1PR4_HUMAN					1	1063	+			UPI0000050462	346			Cytoplasmic (By similarity).		SNV	S1PR4,synonymous_variant,p.=,ENST00000246115,NM_003775.3;S1PR4,downstream_gene_variant,,ENST00000591346,;	uc002lxg.2	c.1038C>T	1093/1594	2	2			c.1038C>T						19	SNP	c.(1036-1038)TCC>TCT	39	39			lung(1)|skin(1)	2	Broad	sphingosine-1-phosphate receptor 4 precursor			3179828		0.687	ENSG00000125910	13576	g.chr19:3179828C>T	activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	GBM(82;318 1638 33279 49708)			GBM(82;318 1638 33279 49708)			289.488766	KEEP	55	44	-1	68	53	55	44	-1	289.732845	68	53	0.462312	1	0	0	0	0	0	0	1	0	--	--		0	T				183	GBM-26-5134-TP	p.S346S	C	AGGCTCACTCCGGAGCTTCCA	NM_003775	NP_003766	3179828	O95977	S1PR4_HUMAN	0			1	1063	+	T	T			Silent	346			Cytoplasmic (By similarity).			
SACS	26278	broad.mit.edu	GRCh37	13	23912431	23912431	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0128-01	TCGA-06-0128-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382298.3:c.5584A>G	p.Thr1862Ala	p.T1862A	ENST00000382298	NM_014363.5	1862	Aca/Gca	0			1			C	T/A	uc001uon.2	protein_coding		CCDS9300.2			5584/13740									ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12	c.(5584-5586)ACA>GCA			hmmpanther:PTHR15600:SF26,hmmpanther:PTHR15600	sacsin				ENSP00000371729		9-Sep									COSM1606923,COSM1606922	9-Sep	.		ENST00000382292	Transcript	1		cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	ENSG00000151835	g.chr13:23912431T>C	10519			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=SACS_HUMAN&rb=1682&re=1881&var=T1862A	NA	getma.org/?cm=var&var=hg19,13,23912431,T,C&fts=all	T1862A	--	--	1																																		SACS_uc001uoo.2_Missense_Mutation_p.T1715A|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	1,1			benign(0)	p.T1862A	NM_014363	NP_055178			1,1	SACS_HUMAN	SACS	HGNC	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)			10	6173	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	UPI000047039D	1862					SNV	SACS,missense_variant,p.Thr1862Ala,ENST00000382298,NM_014363.5;SACS,missense_variant,p.Thr1862Ala,ENST00000382292,;SACS,missense_variant,p.Thr1112Ala,ENST00000402364,NM_001278055.1;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;	uc001uon.2	c.5584A>G	5858/15324	4	4			c.5584A>G						13	SNP	c.(5584-5586)ACA>GCA	41	41			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12	Broad	sacsin			23912431		0.453	ENSG00000151835	13584	g.chr13:23912431T>C	cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			738			738	161.125302	KEEP	23	28	-1	40	44	23	28	-1	162.936592	40	44	0.370968	1	0	0	0	0	1	0	0	0	--	--		0	C			SACS_uc001uoo.2_Missense_Mutation_p.T1715A|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	14	GBM-06-0128-TP	p.T1862A	T	GGTTTCACTGTCCACTTCTGG	NM_014363	NP_055178	23912431	Q9NZJ4	SACS_HUMAN	0		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	6173	-	C	C		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	Missense_Mutation	1862						
SACS	0	broad.mit.edu	GRCh37	13	23908788	23908788	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-27-1833-01	TCGA-27-1833-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382292.3:c.9227C>A	p.Thr3076Asn	p.T3076N	ENST00000382292		3076	aCt/aAt	0			1			T	T/N	uc001uon.2	protein_coding		CCDS9300.2			9227/13740									ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12	c.(9226-9228)ACT>AAT			hmmpanther:PTHR15600:SF26,hmmpanther:PTHR15600	sacsin				ENSP00000371729		9-Sep									COSM3747941,COSM3747940	9-Sep	.		ENST00000382292	Transcript	1		cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	ENSG00000151835	g.chr13:23908788G>T	10519			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=SACS_HUMAN&rb=2882&re=3081&var=T3076N	NA	getma.org/?cm=var&var=hg19,13,23908788,G,T&fts=all	T3076N	--	--	1																																		SACS_uc001uoo.2_Missense_Mutation_p.T2929N|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	1,1			probably_damaging(0.994)	p.T3076N	NM_014363	NP_055178			1,1	SACS_HUMAN	SACS	HGNC	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)			10	9816	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	UPI000047039D	3076					SNV	SACS,missense_variant,p.Thr3076Asn,ENST00000382298,NM_014363.5;SACS,missense_variant,p.Thr3076Asn,ENST00000382292,;SACS,missense_variant,p.Thr2326Asn,ENST00000402364,NM_001278055.1;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;	uc001uon.2	c.9227C>A	9501/15324	1	1			c.9227C>A						13	SNP	c.(9226-9228)ACT>AAT	2	2			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12	Broad	sacsin			23908788		0.358	ENSG00000151835	13584	g.chr13:23908788G>T	cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			738			738	146.783504	KEEP	26	24	0.52	29	35	26	24	0.52	147.171915	29	35	0.436364	1	0	0	0	0	1	0	0	0	--	--		0	T			SACS_uc001uoo.2_Missense_Mutation_p.T2929N|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	192	GBM-27-1833-TP	p.T3076N	G	AAGATTAGCAGTTTCATCACA	NM_014363	NP_055178	23908788	Q9NZJ4	SACS_HUMAN	0		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	9816	-	T	T		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	Missense_Mutation	3076						
SACS	0	broad.mit.edu	GRCh37	13	23942617	23942617	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-28-5213-01	TCGA-28-5213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382292.3:c.269G>T	p.Gly90Val	p.G90V	ENST00000382292		90	gGt/gTt	0			1			A	G/V	uc001uon.2	protein_coding		CCDS9300.2			269/13740									ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12	c.(268-270)GGT>GTT			hmmpanther:PTHR15600:SF26,hmmpanther:PTHR15600,Gene3D:3.30.565.10,Superfamily_domains:SSF55874	sacsin				ENSP00000371729		9-Apr									COSM3399278	9-Apr	.		ENST00000382292	Transcript	1		cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	ENSG00000151835	g.chr13:23942617C>A	10519			MODERATE		2.86	medium	getma.org/?cm=msa&ty=f&p=SACS_HUMAN&rb=82&re=281&var=G90V	NA	getma.org/?cm=var&var=hg19,13,23942617,C,A&fts=all	G90V	--	--	1																																		SACS_uc001uoo.2_5'UTR|SACS_uc001uoq.1_5'UTR	1			probably_damaging(0.999)	p.G90V	NM_014363	NP_055178			1	SACS_HUMAN	SACS	HGNC	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)			5	858	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	UPI000047039D	90					SNV	SACS,missense_variant,p.Gly90Val,ENST00000382298,NM_014363.5;SACS,missense_variant,p.Gly90Val,ENST00000382292,;SACS,5_prime_UTR_variant,,ENST00000402364,NM_001278055.1;SACS,upstream_gene_variant,,ENST00000455470,;RPLP1P13,upstream_gene_variant,,ENST00000434567,;	uc001uon.2	c.269G>T	543/15324	2	2			c.269G>T						13	SNP	c.(268-270)GGT>GTT	32	32			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12	Broad	sacsin			23942617		0.393	ENSG00000151835	13584	g.chr13:23942617C>A	cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			738			738	18.75438	KEEP	4	5	0.555555556	17	32	4	5	0.555555556	23.562022	17	32	0.18	1	0	0	0	0	1	0	0	0	--	--		0	A			SACS_uc001uoo.2_5'UTR|SACS_uc001uoq.1_5'UTR	220	GBM-28-5213-TP	p.G90V	C	CGTTGTCTGACCAAATCGACC	NM_014363	NP_055178	23942617	Q9NZJ4	SACS_HUMAN	0		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	5	858	-	A	A		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	Missense_Mutation	90						
SACS	26278		GRCh37	13	23913882	23913882	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000382298.3:c.4133C>T	p.Pro1378Leu	p.P1378L	ENST00000382298	NM_014363.5	1378	cCa/cTa	0																																																																																																																																																																																																																																												
SACS	26278		GRCh37	13	23914687	23914687	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000382298.3:c.3328del	p.Ile1110LeufsTer16	p.I1110Lfs*16	ENST00000382298	NM_014363.5	1110	Att/tt	0																																																																																																																																																																																																																																												
SACS	26278		GRCh37	13	23913301	23913301	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000382298.3:c.4714A>G	p.Ile1572Val	p.I1572V	ENST00000382298	NM_014363.5	1572	Att/Gtt	0																																																																																																																																																																																																																																												
SAE1	0	broad.mit.edu	GRCh37	19	47700626	47700626	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-4157-01	TCGA-14-4157-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000270225.7:c.870C>A	p.Asp290Glu	p.D290E	ENST00000270225	NM_005500.2	290	gaC/gaA	0			1			A	D/E	uc002pgc.2	protein_coding	YES	CCDS12696.1			870/1041									ovary(1)	1	c.(868-870)GAC>GAA			Superfamily_domains:SSF69572,Gene3D:3.40.50.720,hmmpanther:PTHR10953:SF142,hmmpanther:PTHR10953	SubName: Full=SUMO-1 activating enzyme subunit 1, isoform CRA_b; SubName: Full=cDNA, FLJ96708, Homo sapiens SUMO-1 activating enzyme subunit 1 (SAE1), mRNA;				ENSP00000270225		9-Jul									COSM3404415	9-Jul	.		ENST00000270225	Transcript			protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity	ENSG00000142230	g.chr19:47700626C>A	30660			MODERATE		1.005	low	getma.org/?cm=msa&ty=f&p=SAE1_HUMAN&rb=169&re=346&var=D290E	getma.org/pdb.php?prot=SAE1_HUMAN&from=169&to=346&var=D290E	getma.org/?cm=var&var=hg19,19,47700626,C,A&fts=all	D290E	--	--	1																																		SAE1_uc002pgd.2_Intron|SAE1_uc010ekx.2_Intron|SAE1_uc010ekw.2_RNA|SAE1_uc010xyk.1_Missense_Mutation_p.D116E|SAE1_uc002pge.2_Missense_Mutation_p.D226E	1	1		benign(0.003)	p.D290E	NM_016402	NP_057486		tolerated(0.15)	1	SAE1_HUMAN	SAE1	HGNC	Q9UBE0	SAE1_HUMAN		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)	M0R286_HUMAN,M0R054_HUMAN,M0QYP2_HUMAN,M0QYM8_HUMAN		7	926	+		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)	UPI0000037725	290					SNV	SAE1,missense_variant,p.Asp290Glu,ENST00000270225,NM_005500.2;SAE1,missense_variant,p.Asp209Glu,ENST00000598840,;SAE1,missense_variant,p.Asp116Glu,ENST00000540850,;SAE1,intron_variant,,ENST00000413379,NM_001145713.1;SAE1,intron_variant,,ENST00000392776,NM_001145714.1;SAE1,3_prime_UTR_variant,,ENST00000414294,;SAE1,3_prime_UTR_variant,,ENST00000596995,;	uc002pgc.2	c.870C>A	938/2049	2	2			c.870C>A						19	SNP	c.(868-870)GAC>GAA	33	33			ovary(1)	1	Broad	SubName: Full=SUMO-1 activating enzyme subunit 1, isoform CRA_b; SubName: Full=cDNA, FLJ96708, Homo sapiens SUMO-1 activating enzyme subunit 1 (SAE1), mRNA;			47700626		0.398	ENSG00000142230	13585	g.chr19:47700626C>A	protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity							-34.8293	KEEP	4	1	0.2	71	110	4	1	0.2	6.572738	71	110	0.018868	1	0	0	0	0	1	0	0	0	--	--		0	A			SAE1_uc002pgd.2_Intron|SAE1_uc010ekx.2_Intron|SAE1_uc010ekw.2_RNA|SAE1_uc010xyk.1_Missense_Mutation_p.D116E|SAE1_uc002pge.2_Missense_Mutation_p.D226E	152	GBM-14-4157-TP	p.D290E	C	TTCCTGAGGACTTTGTCAGGT	NM_016402	NP_057486	47700626	Q9UBE0	SAE1_HUMAN	0		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)	7	926	+	A	A		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)	Missense_Mutation	290						
SAFB	6294	broad.mit.edu	GRCh37	19	5668177	5668177	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01	TCGA-02-0047-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000588852.1:c.2629G>A	p.Gly877Ser	p.G877S	ENST00000588852		877	Ggc/Agc	0			1			A	G/S	uc002mcf.2	protein_coding		CCDS12142.1			2623/2748									ovary(1)|liver(1)|skin(1)	3	c.(2623-2625)GGC>AGC			hmmpanther:PTHR15683,hmmpanther:PTHR15683:SF6,Low_complexity_(Seg):seg	scaffold attachment factor B				ENSP00000292123		21/21	8.24E-06					1.52E-05			rs781691891,COSM3404674	21/21	.		ENST00000292123	Transcript			chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	ENSG00000160633	g.chr19:5668177G>A	10520			MODERATE		2.31	medium	getma.org/?cm=msa&ty=f&p=SAFB1_HUMAN&rb=489&re=913&var=G875S	NA	getma.org/?cm=var&var=hg19,19,5668177,G,A&fts=all	G875S	--	--	1																																		SAFB_uc002mcg.2_Missense_Mutation_p.G877S|SAFB_uc002mce.3_Missense_Mutation_p.G876S|SAFB_uc010xir.1_Missense_Mutation_p.G874S|SAFB_uc010xis.1_Missense_Mutation_p.G808S|SAFB_uc010xit.1_Missense_Mutation_p.G719S|SAFB_uc010xiu.1_Missense_Mutation_p.G676S	0,1			unknown(0)	p.G875S	NM_002967	NP_002958		tolerated(0.13)	0,1	SAFB1_HUMAN	SAFB	HGNC	Q15424	SAFB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	Q68DW3_HUMAN		21	2676	+			UPI0000161FB7	875			Interaction with SAFB2.|Gly-rich.		SNV	SAFB,missense_variant,p.Gly875Ser,ENST00000292123,NM_002967.3,NM_001201339.1,NM_001201338.1;SAFB,missense_variant,p.Gly876Ser,ENST00000592224,;SAFB,missense_variant,p.Gly707Ser,ENST00000433404,;SAFB,missense_variant,p.Gly877Ser,ENST00000588852,;SAFB,missense_variant,p.Gly808Ser,ENST00000454510,NM_001201340.1;SAFB,missense_variant,p.Gly719Ser,ENST00000538656,;SAFB,downstream_gene_variant,,ENST00000589006,;SAFB,3_prime_UTR_variant,,ENST00000589863,;SAFB,non_coding_transcript_exon_variant,,ENST00000591991,;SAFB,non_coding_transcript_exon_variant,,ENST00000592555,;SAFB,downstream_gene_variant,,ENST00000586281,;	uc002mcf.2	c.2623G>A	2730/3042	1	1			c.2623G>A						19	SNP	c.(2623-2625)GGC>AGC	61	61			ovary(1)|liver(1)|skin(1)	3	Broad	scaffold attachment factor B			5668177		0.677	ENSG00000160633	13586	g.chr19:5668177G>A	chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	Colon(88;338 1345 6184 8214 20897)			Colon(88;338 1345 6184 8214 20897)			-24.0555	KEEP	4	3	-1	97	91	4	3	-1	12.11309	97	91	0.038217	1	0	0	0	0	1	0	0	0	--	--		0	A			SAFB_uc002mcg.2_Missense_Mutation_p.G877S|SAFB_uc002mce.3_Missense_Mutation_p.G876S|SAFB_uc010xir.1_Missense_Mutation_p.G874S|SAFB_uc010xis.1_Missense_Mutation_p.G808S|SAFB_uc010xit.1_Missense_Mutation_p.G719S|SAFB_uc010xiu.1_Missense_Mutation_p.G676S	3	GBM-02-0047-TP	p.G875S	G	TCCTAGGCGCGGCAGCTTTGC	NM_002967	NP_002958	5668177	Q15424	SAFB1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	21	2676	+	A	A			Missense_Mutation	875			Interaction with SAFB2.|Gly-rich.			
SAFB2	0	broad.mit.edu	GRCh37	19	5587916	5587916	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2619-01	TCGA-19-2619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252542.4:c.2601C>T	p.Asp867=	p.D867=	ENST00000252542	NM_014649.2	867	gaC/gaT	0	A:0		1			A	D	uc002mcd.2	protein_coding	YES	CCDS32879.1			2601/2862										0	c.(2599-2601)GAC>GAT			hmmpanther:PTHR15683,hmmpanther:PTHR15683:SF4	scaffold attachment factor B2			A:0.0001	ENSP00000252542		19/21	2.47E-05					3.53E-05			rs372249286,COSM3404643	19/21	.		ENST00000252542	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	ENSG00000130254	g.chr19:5587916G>A	21605			LOW								--	--	1																																			0,1	1			p.D867D	NM_014649	NP_055464			0,1	SAFB2_HUMAN	SAFB2	HGNC	Q14151	SAFB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)			19	2813	-			UPI0000071DB7	867			Interacts with SAFB1.|Gly-rich.		SNV	SAFB2,synonymous_variant,p.=,ENST00000252542,NM_014649.2;SAFB2,non_coding_transcript_exon_variant,,ENST00000587802,;SAFB2,non_coding_transcript_exon_variant,,ENST00000589925,;SAFB2,downstream_gene_variant,,ENST00000590000,;	uc002mcd.2	c.2601C>T	2866/3371	2	2			c.2601C>T						19	SNP	c.(2599-2601)GAC>GAT	29	29				0	Broad	scaffold attachment factor B2			5587916		0.672	ENSG00000130254	13587	g.chr19:5587916G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	Ovarian(127;888 1728 23957 44128 52668)			Ovarian(127;888 1728 23957 44128 52668)			35.00477	KEEP	7	8	-1	7	6	7	8	-1	35.00477	7	6	0.5	1	0	0	0	0	0	0	1	0	--	--		0	A				161	GBM-19-2619-TP	p.D867D	G	CCGCGCCTGCGTCCATGGCAC	NM_014649	NP_055464	5587916	Q14151	SAFB2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)	19	2813	-	A	A			Silent	867			Interacts with SAFB1.|Gly-rich.			
SAFB2	0	broad.mit.edu	GRCh37	19	5587954	5587954	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01	TCGA-27-1835-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252542.4:c.2563G>A	p.Glu855Lys	p.E855K	ENST00000252542	NM_014649.2	855	Gag/Aag	0			1			T	E/K	uc002mcd.2	protein_coding	YES	CCDS32879.1			2563/2862										0	c.(2563-2565)GAG>AAG			hmmpanther:PTHR15683,hmmpanther:PTHR15683:SF4	scaffold attachment factor B2				ENSP00000252542		19/21									COSM3748073	19/21	.		ENST00000252542	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	ENSG00000130254	g.chr19:5587954C>T	21605			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=SAFB2_HUMAN&rb=731&re=952&var=E855K	NA	getma.org/?cm=var&var=hg19,19,5587954,C,T&fts=all	E855K	--	--	1																																			1	1		possibly_damaging(0.636)	p.E855K	NM_014649	NP_055464		deleterious(0.01)	1	SAFB2_HUMAN	SAFB2	HGNC	Q14151	SAFB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)			19	2775	-			UPI0000071DB7	855			Interacts with SAFB1.|Gly-rich.		SNV	SAFB2,missense_variant,p.Glu855Lys,ENST00000252542,NM_014649.2;SAFB2,non_coding_transcript_exon_variant,,ENST00000587802,;SAFB2,non_coding_transcript_exon_variant,,ENST00000589925,;SAFB2,downstream_gene_variant,,ENST00000590000,;	uc002mcd.2	c.2563G>A	2828/3371	1	1			c.2563G>A						19	SNP	c.(2563-2565)GAG>AAG	5	5				0	Broad	scaffold attachment factor B2			5587954		0.652	ENSG00000130254	13587	g.chr19:5587954C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	Ovarian(127;888 1728 23957 44128 52668)			Ovarian(127;888 1728 23957 44128 52668)			4.715989	KEEP	4	2	-1	7	19	4	2	-1	6.39361	7	19	0.176471	1	0	0	0	0	1	0	0	0	--	--		0	T				194	GBM-27-1835-TP	p.E855K	C	TGGTGCTCCTCTAGCCGCTGG	NM_014649	NP_055464	5587954	Q14151	SAFB2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)	19	2775	-	T	T			Missense_Mutation	855			Interacts with SAFB1.|Gly-rich.			
SAG	6295		GRCh37	2	234237130	234237130	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000409110.1:c.519C>T	p.Ser173=	p.S173=	ENST00000409110	NM_000541.4	173	tcC/tcT	0																																																																																																																																																																																																																																												
SALL1	0	broad.mit.edu	GRCh37	16	51171034	51171034	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-12-1597-01	TCGA-12-1597-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251020.4:c.3964G>C	p.Val1322Leu	p.V1322L	ENST00000251020	NM_002968.2	1322	Gtc/Ctc	0			1			G	V/L	uc010vgs.1	protein_coding	YES	CCDS10747.1			3964/3975									skin(5)|ovary(3)	8	c.(3964-3966)GTC>CTC			hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF51	sal-like 1 isoform a				ENSP00000251020		3-Mar	1.65E-05			0.000232					rs199701845,COSM3402352	3-Mar	.		ENST00000251020	Transcript	1		adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000103449	g.chr16:51171034C>G	10524			MODERATE		0.205	neutral	getma.org/?cm=msa&ty=f&p=SALL1_HUMAN&rb=1174&re=1324&var=V1322L	getma.org/pdb.php?prot=SALL1_HUMAN&from=1174&to=1324&var=V1322L	getma.org/?cm=var&var=hg19,16,51171034,C,G&fts=all	V1322L	--	--	1																																		SALL1_uc010vgr.1_Missense_Mutation_p.V1225L|SALL1_uc010cbv.2_Missense_Mutation_p.V174L	0,1	1		benign(0.166)	p.V1322L	NM_002968	NP_002959		deleterious(0.01)	0,1	SALL1_HUMAN	SALL1	HGNC	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		H3BSM9_HUMAN		3	3995	-		all_cancers(37;0.0322)	UPI000013CCD8	1322					SNV	SALL1,missense_variant,p.Val1225Leu,ENST00000440970,NM_001127892.1;SALL1,missense_variant,p.Val1322Leu,ENST00000251020,NM_002968.2;SALL1,missense_variant,p.Val145Leu,ENST00000541611,;SALL1,3_prime_UTR_variant,,ENST00000566102,;SALL1,downstream_gene_variant,,ENST00000570206,;	uc010vgs.1	c.3964G>C	3998/5146	3	3			c.3964G>C						16	SNP	c.(3964-3966)GTC>CTC	6	6			skin(5)|ovary(3)	8	Broad	sal-like 1 isoform a			51171034		0.592	ENSG00000103449	13590	g.chr16:51171034C>G	adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	GBM(103;1352 1446 1855 4775 8890)			GBM(103;1352 1446 1855 4775 8890)			62.435977	KEEP	11	8	-1	16	25	11	8	-1	63.762423	16	25	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	G			SALL1_uc010vgr.1_Missense_Mutation_p.V1225L|SALL1_uc010cbv.2_Missense_Mutation_p.V174L	124	GBM-12-1597-TP	p.V1322L	C	TAACTCGTGACGATCTCCTTG	NM_002968	NP_002959	51171034	Q9NSC2	SALL1_HUMAN	0	COAD - Colon adenocarcinoma(2;0.24)		3	3995	-	G	G		all_cancers(37;0.0322)	Missense_Mutation	1322						
SALL2	0	broad.mit.edu	GRCh37	14	21991030	21991030	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-27-2521-01	TCGA-27-2521-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327430.3:c.2832C>A	p.Phe944Leu	p.F944L	ENST00000327430	NM_005407.1	944	ttC/ttA	0			1			T	F/L	uc001wbe.2	protein_coding	YES	CCDS32045.1			2832/3024									ovary(2)|large_intestine(1)	3	c.(2830-2832)TTC>TTA			PROSITE_profiles:PS50157,hmmpanther:PTHR23233:SF15,hmmpanther:PTHR23233,PROSITE_patterns:PS00028,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	sal-like 2				ENSP00000333537		2-Feb									COSM3401230	2-Feb	.		ENST00000327430	Transcript	1				DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000165821	g.chr14:21991030G>T	10526			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=SALL2_HUMAN&rb=905&re=971&var=F944L	getma.org/pdb.php?prot=SALL2_HUMAN&from=925&to=951&var=F944L	getma.org/?cm=var&var=hg19,14,21991030,G,T&fts=all	F944L	--	--	1																																		SALL2_uc010tly.1_Missense_Mutation_p.F942L|SALL2_uc010tlz.1_Missense_Mutation_p.F807L|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.F809L|SALL2_uc001wbg.1_Intron	1	1		benign(0.301)	p.F944L	NM_005407	NP_005398		tolerated(0.38)	1	SALL2_HUMAN	SALL2	HGNC	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	F5H1G6_HUMAN		2	3114	-	all_cancers(95;0.000662)		UPI00001AF54D	944			C2H2-type 7.		SNV	SALL2,missense_variant,p.Phe944Leu,ENST00000327430,NM_005407.1;SALL2,missense_variant,p.Phe807Leu,ENST00000450879,;SALL2,missense_variant,p.Phe803Leu,ENST00000546363,;SALL2,intron_variant,,ENST00000317492,;SALL2,intron_variant,,ENST00000538754,;SALL2,downstream_gene_variant,,ENST00000537235,;SALL2,downstream_gene_variant,,ENST00000541965,;AE000658.22,downstream_gene_variant,,ENST00000535893,;	uc001wbe.2	c.2832C>A	3127/4925	2	2			c.2832C>A						14	SNP	c.(2830-2832)TTC>TTA	36	36			ovary(2)|large_intestine(1)	3	Broad	sal-like 2			21991030		0.597	ENSG00000165821	13591	g.chr14:21991030G>T			DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							-25.021775	KEEP	0	4	-1	63	75	0	4	-1	6.934746	63	75	0.030303	1	0	0	0	0	1	0	0	0	--	--		0	T			SALL2_uc010tly.1_Missense_Mutation_p.F942L|SALL2_uc010tlz.1_Missense_Mutation_p.F807L|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.F809L|SALL2_uc001wbg.1_Intron	200	GBM-27-2521-TP	p.F944L	G	CCTGCCTGCAGAAAACACAAG	NM_005407	NP_005398	21991030	Q9Y467	SALL2_HUMAN	0		GBM - Glioblastoma multiforme(265;0.0151)	2	3114	-	T	T	all_cancers(95;0.000662)		Missense_Mutation	944			C2H2-type 7.			
SALL3	0	broad.mit.edu	GRCh37	18	76757007	76757007	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000537592.2:c.3589delC	p.Gln1197ArgfsTer9	p.Q1197Rfs*9	ENST00000537592	NM_171999.3	1196	ttC/tt	0			1			-	F/X	uc002lmt.2	protein_coding	YES	CCDS12013.1			3588/3903									ovary(2)|large_intestine(1)|central_nervous_system(1)	4	c.(3586-3588)TTCfs			hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF46	sal-like 3				ENSP00000441823		3-Mar									COSM2156081	3-Mar	.		ENST00000537592	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000256463	g.chr18:76757007delC	10527	1		HIGH								--	--	1																																		SALL3_uc010dra.2_Frame_Shift_Del_p.F731fs	1	1			p.F1196fs	NM_171999	NP_741996			1	SALL3_HUMAN	SALL3	HGNC	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)			3	3588	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	UPI000013E5A7	1196					deletion	SALL3,frameshift_variant,p.Gln992ArgfsTer9,ENST00000536229,;SALL3,frameshift_variant,p.Gln1125ArgfsTer9,ENST00000575389,;SALL3,frameshift_variant,p.Gln1197ArgfsTer9,ENST00000537592,NM_171999.3;SALL3,intron_variant,,ENST00000573324,;SALL3,downstream_gene_variant,,ENST00000572928,;	uc002lmt.2	c.3588delC	3588/3903	5	5			c.3588delC						18	DEL	c.(3586-3588)TTCfs	NaN	0			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Broad	sal-like 3			76757007		0.577	ENSG00000256463	13592	g.chr18:76757007delC	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding																				0.2	1	1	0	1	0	0	0	0	0	--	--		0	-			SALL3_uc010dra.2_Frame_Shift_Del_p.F731fs	160	GBM-19-1790-TP	p.F1196fs	C	CTGAAATGTTCCAGAAGGACC	NM_171999	NP_741996	76757007	Q9BXA9	SALL3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	3	3588	+	-	-		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	Frame_Shift_Del	1196						
SALL4	57167	broad.mit.edu	GRCh37	20	50407987	50407987	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0939-01	TCGA-06-0939-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217086.4:c.1035G>A	p.Gln345=	p.Q345=	ENST00000217086	NM_020436.3	345	caG/caA	0			1			T	Q	uc002xwh.3	protein_coding	YES	CCDS13438.1			1035/3162									ovary(2)	2	c.(1033-1035)CAG>CAA			hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF19	sal-like 4				ENSP00000217086		4-Feb									COSM2152410	4-Feb	.		ENST00000217086	Transcript	1		transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000101115	g.chr20:50407987C>T	15924			LOW								--	--	1																																		SALL4_uc010gii.2_Silent_p.Q345Q|SALL4_uc002xwi.3_Intron	1	1			p.Q345Q	NM_020436	NP_065169			1	SALL4_HUMAN	SALL4	HGNC	Q9UJQ4	SALL4_HUMAN					2	1136	-			UPI0000135527	345					SNV	SALL4,synonymous_variant,p.=,ENST00000217086,NM_020436.3;SALL4,synonymous_variant,p.=,ENST00000395997,;SALL4,intron_variant,,ENST00000371539,;SALL4,downstream_gene_variant,,ENST00000483130,;SALL4,downstream_gene_variant,,ENST00000481363,;	uc002xwh.3	c.1035G>A	1147/3497	1	1			c.1035G>A						20	SNP	c.(1033-1035)CAG>CAA	12	12			ovary(2)	2	Broad	sal-like 4			50407987		0.632	ENSG00000101115	13593	g.chr20:50407987C>T	transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							50.292364	KEEP	10	11	-1	18	34	10	11	-1	53.429632	18	34	0.275362	1	0	0	0	0	0	0	1	0	--	--		0	T			SALL4_uc010gii.2_Silent_p.Q345Q|SALL4_uc002xwi.3_Intron	78	GBM-06-0939-TP	p.Q345Q	C	AGAAAGGGCTCTGGAAGAGCA	NM_020436	NP_065169	50407987	Q9UJQ4	SALL4_HUMAN	0			2	1136	-	T	T			Silent	345						
SALL4	0	broad.mit.edu	GRCh37	20	50408434	50408434	+	synonymous_variant	Silent	SNP	C	C	A	rs143754390		TCGA-28-5216-01	TCGA-28-5216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217086.4:c.588G>T	p.Arg196=	p.R196=	ENST00000217086	NM_020436.3	196	cgG/cgT	0			1			A	R	uc002xwh.3	protein_coding	YES	CCDS13438.1			588/3162									ovary(2)	2	c.(586-588)CGG>CGT			hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF19	sal-like 4				ENSP00000217086		4-Feb									COSM3405205	4-Feb	.		ENST00000217086	Transcript	1		transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000101115	g.chr20:50408434C>A	15924			LOW								--	--	1																																		SALL4_uc010gii.2_Silent_p.R196R|SALL4_uc002xwi.3_Intron	1	1			p.R196R	NM_020436	NP_065169			1	SALL4_HUMAN	SALL4	HGNC	Q9UJQ4	SALL4_HUMAN					2	689	-			UPI0000135527	196					SNV	SALL4,synonymous_variant,p.=,ENST00000217086,NM_020436.3;SALL4,synonymous_variant,p.=,ENST00000395997,;SALL4,intron_variant,,ENST00000371539,;SALL4,downstream_gene_variant,,ENST00000483130,;SALL4,downstream_gene_variant,,ENST00000481363,;	uc002xwh.3	c.588G>T	700/3497	2	2			c.588G>T						20	SNP	c.(586-588)CGG>CGT	44	44			ovary(2)	2	Broad	sal-like 4			50408434		0.602	ENSG00000101115	13593	g.chr20:50408434C>A	transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							195.562785	KEEP	54	45	0.454545455	112	106	54	45	0.454545455	206.324312	112	106	0.294737	1	0	0	0	0	0	0	1	0	--	--		0	A			SALL4_uc010gii.2_Silent_p.R196R|SALL4_uc002xwi.3_Intron	223	GBM-28-5216-TP	p.R196R	C	CATCCGCGCTCCGCTGATTCA	NM_020436	NP_065169	50408434	Q9UJQ4	SALL4_HUMAN	0			2	689	-	A	A			Silent	196						
SALL4	0	broad.mit.edu	GRCh37	20	50401201	50401201	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01	TCGA-32-4210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217086.4:c.2765C>T	p.Ala922Val	p.A922V	ENST00000217086	NM_020436.3	922	gCg/gTg	0			1			A	A/V	uc002xwh.3	protein_coding	YES	CCDS13438.1			2765/3162									ovary(2)	2	c.(2764-2766)GCG>GTG			PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF19	sal-like 4				ENSP00000217086		4-Apr									rs755288586,COSM271696	4-Apr	.		ENST00000217086	Transcript	1		transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000101115	g.chr20:50401201G>A	15924			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=SALL4_HUMAN&rb=912&re=1051&var=A922V	NA	getma.org/?cm=var&var=hg19,20,50401201,G,A&fts=all	A922V	--	--	1																																		SALL4_uc010gii.2_Missense_Mutation_p.A485V|SALL4_uc002xwi.3_Missense_Mutation_p.A145V	0,1	1		benign(0.283)	p.A922V	NM_020436	NP_065169		tolerated(0.64)	0,1	SALL4_HUMAN	SALL4	HGNC	Q9UJQ4	SALL4_HUMAN					4	2866	-			UPI0000135527	922					SNV	SALL4,missense_variant,p.Ala922Val,ENST00000217086,NM_020436.3;SALL4,missense_variant,p.Ala485Val,ENST00000395997,;SALL4,missense_variant,p.Ala145Val,ENST00000371539,;	uc002xwh.3	c.2765C>T	2877/3497	2	2			c.2765C>T						20	SNP	c.(2764-2766)GCG>GTG	45	45			ovary(2)	2	Broad	sal-like 4			50401201		0.468	ENSG00000101115	13593	g.chr20:50401201G>A	transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							120.039867	KEEP	26	32	-1	65	72	26	32	-1	127.021067	65	72	0.289773	1	0	0	0	0	1	0	0	0	--	--		0	A			SALL4_uc010gii.2_Missense_Mutation_p.A485V|SALL4_uc002xwi.3_Missense_Mutation_p.A145V	245	GBM-32-4210-TP	p.A922V	G	GTTATTGTTCGCCCCGTGTGT	NM_020436	NP_065169	50401201	Q9UJQ4	SALL4_HUMAN	0			4	2866	-	A	A			Missense_Mutation	922						
SALL4	57167		GRCh37	20	50407510	50407510	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000217086.4:c.1512C>T	p.Pro504=	p.P504=	ENST00000217086	NM_020436.3	504	ccC/ccT	0																																																																																																																																																																																																																																												
SAMD12	401474	broad.mit.edu	GRCh37	8	119452171	119452171	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-06-6388-01	TCGA-06-6388-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314727.4:c.222G>C	p.Val74=	p.V74=	ENST00000314727	NM_207506.2	74	gtG/gtC	0			1			G	V	uc003yom.2	protein_coding	YES	CCDS6325.1			222/606									ovary(1)	1	c.(220-222)GTG>GTC			Gene3D:1.10.150.50,hmmpanther:PTHR20843,hmmpanther:PTHR20843:SF2,SMART_domains:SM00454,Superfamily_domains:SSF47769	sterile alpha motif domain containing 12 isoform				ENSP00000314173		4-Mar									COSM3412710,COSM3412711	4-Mar	.		ENST00000314727	Transcript						ENSG00000177570	g.chr8:119452171C>G	31750			LOW								--	--	1																																		SAMD12_uc010mda.1_Silent_p.V74V|SAMD12_uc010mdb.1_RNA	1,1	1			p.V74V	NM_207506	NP_997389			1,1	SAM12_HUMAN	SAMD12	HGNC	Q8N8I0	SAM12_HUMAN	STAD - Stomach adenocarcinoma(47;0.00391)		E9PLP5_HUMAN		3	351	-	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		UPI000013F8F1	74					SNV	SAMD12,synonymous_variant,p.=,ENST00000409003,NM_001101676.1;SAMD12,synonymous_variant,p.=,ENST00000314727,NM_207506.2;SAMD12,synonymous_variant,p.=,ENST00000453675,;SAMD12,synonymous_variant,p.=,ENST00000524796,;SAMD12,synonymous_variant,p.=,ENST00000526328,;SAMD12,synonymous_variant,p.=,ENST00000526765,;SAMD12,intron_variant,,ENST00000445741,;	uc003yom.2	c.222G>C	359/2172	3	3			c.222G>C						8	SNP	c.(220-222)GTG>GTC	7	7			ovary(1)	1	Broad	sterile alpha motif domain containing 12 isoform			119452171		0.428	ENSG00000177570	13597	g.chr8:119452171C>G										81.030853	KEEP	17	12	-1	30	21	17	12	-1	82.148719	30	21	0.366197	1	0	0	0	0	0	0	1	0	--	--		0	G			SAMD12_uc010mda.1_Silent_p.V74V|SAMD12_uc010mdb.1_RNA	104	GBM-06-6388-TP	p.V74V	C	TCCATAGAGCCACCGGTTTAG	NM_207506	NP_997389	119452171	Q8N8I0	SAM12_HUMAN	0	STAD - Stomach adenocarcinoma(47;0.00391)		3	351	-	G	G	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		Silent	74						
SAMD12	0	broad.mit.edu	GRCh37	8	119593041	119593041	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-19-5958-01	TCGA-19-5958-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314727.4:c.105T>A	p.Ser35=	p.S35=	ENST00000314727	NM_207506.2	35	tcT/tcA	0			1			T	S	uc003yom.2	protein_coding	YES	CCDS6325.1			105/606									ovary(1)	1	c.(103-105)TCT>TCA			hmmpanther:PTHR20843,hmmpanther:PTHR20843:SF2	sterile alpha motif domain containing 12 isoform				ENSP00000314173		4-Feb									COSM2156836,COSM3412712	4-Feb	.		ENST00000314727	Transcript						ENSG00000177570	g.chr8:119593041A>T	31750			LOW								--	--	1																																		SAMD12_uc010mda.1_Silent_p.S35S|SAMD12_uc010mdb.1_RNA	1,1	1			p.S35S	NM_207506	NP_997389			1,1	SAM12_HUMAN	SAMD12	HGNC	Q8N8I0	SAM12_HUMAN	STAD - Stomach adenocarcinoma(47;0.00391)		E9PLP5_HUMAN		2	234	-	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		UPI000013F8F1	35					SNV	SAMD12,synonymous_variant,p.=,ENST00000409003,NM_001101676.1;SAMD12,synonymous_variant,p.=,ENST00000314727,NM_207506.2;SAMD12,synonymous_variant,p.=,ENST00000453675,;SAMD12,synonymous_variant,p.=,ENST00000524796,;SAMD12,synonymous_variant,p.=,ENST00000526328,;SAMD12,synonymous_variant,p.=,ENST00000526765,;SAMD12,synonymous_variant,p.=,ENST00000445741,;	uc003yom.2	c.105T>A	242/2172	2	2			c.105T>A						8	SNP	c.(103-105)TCT>TCA	34	34			ovary(1)	1	Broad	sterile alpha motif domain containing 12 isoform			119593041		0.453	ENSG00000177570	13597	g.chr8:119593041A>T										85.424551	KEEP	19	12	-1	31	27	19	12	-1	86.935373	31	27	0.357143	1	0	0	0	0	0	0	1	0	--	--		0	T			SAMD12_uc010mda.1_Silent_p.S35S|SAMD12_uc010mdb.1_RNA	176	GBM-19-5958-TP	p.S35S	A	TAATGGATTGAGATTCCACAC	NM_207506	NP_997389	119593041	Q8N8I0	SAM12_HUMAN	0	STAD - Stomach adenocarcinoma(47;0.00391)		2	234	-	T	T	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		Silent	35						
SAMD15	0	broad.mit.edu	GRCh37	14	77843838	77843839	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	TG			TCGA-12-0618-01	TCGA-12-0618-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216471.4:c.78_79dupTG	p.Gly27ValfsTer52	p.G27Vfs*52	ENST00000216471	NM_001010860.1	26	cct/ccTGt	0			1			TG	P/PX	uc001xtq.1	protein_coding	YES	CCDS32126.1			77-78/2025										0	c.(76-78)CCTfs			Low_complexity_(Seg):seg,hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF55	hypothetical protein LOC161394				ENSP00000216471		3-Jan										3-Jan	.		ENST00000216471	Transcript						ENSG00000100583	g.chr14:77843838_77843839insTG	18631	2		HIGH								--	--	1																																		TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank		1			p.P26fs	NM_001010860	NP_001010860				SAM15_HUMAN	SAMD15	HGNC	Q9P1V8	SAM15_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)	G3V2Z3_HUMAN		1	77_78	+			UPI0000072F0E	26					insertion	SAMD15,frameshift_variant,p.Gly27ValfsTer52,ENST00000216471,NM_001010860.1;SAMD15,intron_variant,,ENST00000533095,;TMED8,upstream_gene_variant,,ENST00000216468,NM_213601.1;	uc001xtq.1	c.77_78insTG	363-364/2564	5	5			c.77_78insTG						14	INS	c.(76-78)CCTfs	52	52				0	Broad	hypothetical protein LOC161394			77843839		0.54	ENSG00000100583	1722	g.chr14:77843838_77843839insTG																							0.28	1	0	0	1	1	0	0	0	0	--	--		0	TG			TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank	119	GBM-12-0618-TP	p.P26fs	-	CCTGAACTGCCTGGACTTCATA	NM_001010860	NP_001010860	77843838	Q9P1V8	SAM15_HUMAN	0	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)	1	77_78	+	TG	TG			Frame_Shift_Ins	26						
SAMD7	0	broad.mit.edu	GRCh37	3	169656173	169656173	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-26-5134-01	TCGA-26-5134-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335556.3:c.1220A>G	p.Asp407Gly	p.D407G	ENST00000335556		407	gAt/gGt	0			1			G	D/G	uc003fgd.2	protein_coding		CCDS3209.1			1220/1341									skin(1)	1	c.(1219-1221)GAT>GGT				sterile alpha motif domain containing 7				ENSP00000334668		9-Sep									COSM2156982	9-Sep	.		ENST00000335556	Transcript						ENSG00000187033	g.chr3:169656173A>G	25394			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=SAMD7_HUMAN&rb=400&re=444&var=D407G	NA	getma.org/?cm=var&var=hg19,3,169656173,A,G&fts=all	D407G	--	--	1																																		SAMD7_uc003fge.2_Missense_Mutation_p.D407G|SAMD7_uc011bpo.1_Missense_Mutation_p.D308G	1			benign(0.009)	p.D407G	NM_182610	NP_872416		tolerated(0.11)	1	SAMD7_HUMAN	SAMD7	HGNC	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)				9	1487	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		UPI00001A9D13	407					SNV	SAMD7,missense_variant,p.Asp407Gly,ENST00000428432,NM_182610.2;SAMD7,missense_variant,p.Asp407Gly,ENST00000335556,;RP11-379K17.4,downstream_gene_variant,,ENST00000483289,;RP11-379K17.4,downstream_gene_variant,,ENST00000487580,;SAMD7,3_prime_UTR_variant,,ENST00000487910,;	uc003fgd.2	c.1220A>G	1586/2376	3	3			c.1220A>G						3	SNP	c.(1219-1221)GAT>GGT	2	2			skin(1)	1	Broad	sterile alpha motif domain containing 7			169656173		0.348	ENSG00000187033	13604	g.chr3:169656173A>G										223.808131	KEEP	40	28	-1	47	50	40	28	-1	224.51994	47	50	0.425676	1	0	0	0	0	1	0	0	0	--	--		0	G			SAMD7_uc003fge.2_Missense_Mutation_p.D407G|SAMD7_uc011bpo.1_Missense_Mutation_p.D308G	183	GBM-26-5134-TP	p.D407G	A	CAAGCATTTGATCAACCAGCA	NM_182610	NP_872416	169656173	Q7Z3H4	SAMD7_HUMAN	0	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		9	1487	+	G	G	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Missense_Mutation	407						
SAMD7	0	broad.mit.edu	GRCh37	3	169654200	169654200	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-27-2518-01	TCGA-27-2518-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335556.3:c.1115G>C	p.Gly372Ala	p.G372A	ENST00000335556		372	gGa/gCa	0			1			C	G/A	uc003fgd.2	protein_coding		CCDS3209.1			1115/1341									skin(1)	1	c.(1114-1116)GGA>GCA			PROSITE_profiles:PS50105,hmmpanther:PTHR12247:SF17,hmmpanther:PTHR12247,Gene3D:1.10.150.50,Pfam_domain:PF00536,SMART_domains:SM00454,Superfamily_domains:SSF47769	sterile alpha motif domain containing 7				ENSP00000334668		9-Aug									COSM2157280	9-Aug	.		ENST00000335556	Transcript						ENSG00000187033	g.chr3:169654200G>C	25394			MODERATE		3.36	medium	getma.org/?cm=msa&ty=f&p=SAMD7_HUMAN&rb=325&re=388&var=G372A	getma.org/pdb.php?prot=SAMD7_HUMAN&from=325&to=388&var=G372A	getma.org/?cm=var&var=hg19,3,169654200,G,C&fts=all	G372A	--	--	1																																		SAMD7_uc003fge.2_Missense_Mutation_p.G372A|SAMD7_uc011bpo.1_Missense_Mutation_p.G273A	1			probably_damaging(0.999)	p.G372A	NM_182610	NP_872416		deleterious(0)	1	SAMD7_HUMAN	SAMD7	HGNC	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)				8	1382	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		UPI00001A9D13	372			SAM.		SNV	SAMD7,missense_variant,p.Gly372Ala,ENST00000428432,NM_182610.2;SAMD7,missense_variant,p.Gly372Ala,ENST00000335556,;RP11-379K17.4,downstream_gene_variant,,ENST00000487580,;SAMD7,3_prime_UTR_variant,,ENST00000487910,;RP11-379K17.2,downstream_gene_variant,,ENST00000493762,;	uc003fgd.2	c.1115G>C	1481/2376	3	3			c.1115G>C						3	SNP	c.(1114-1116)GGA>GCA	50	50			skin(1)	1	Broad	sterile alpha motif domain containing 7			169654200		0.343	ENSG00000187033	13604	g.chr3:169654200G>C										67.971342	KEEP	11	14	-1	49	48	11	14	-1	75.415217	49	48	0.221154	1	0	0	0	0	1	0	0	0	--	--		0	C			SAMD7_uc003fge.2_Missense_Mutation_p.G372A|SAMD7_uc011bpo.1_Missense_Mutation_p.G273A	198	GBM-27-2518-TP	p.G372A	G	GGCACTATGGGATTAAAGCTA	NM_182610	NP_872416	169654200	Q7Z3H4	SAMD7_HUMAN	0	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		8	1382	+	C	C	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Missense_Mutation	372			SAM.			
SAMD9	54809	broad.mit.edu	GRCh37	7	92734204	92734204	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0744-01	TCGA-06-0744-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379958.2:c.1207G>T	p.Asp403Tyr	p.D403Y	ENST00000379958	NM_017654.3	403	Gat/Tat	0			1			A	D/Y	uc003umf.2	protein_coding	YES	CCDS34680.1			1207/4770									ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	c.(1207-1209)GAT>TAT			hmmpanther:PTHR16155:SF17,hmmpanther:PTHR16155	sterile alpha motif domain containing 9				ENSP00000369292		3-Mar									COSM2151617	3-Mar	.		ENST00000379958	Transcript	1			cytoplasm		ENSG00000205413	g.chr7:92734204C>A	1348			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=SAMD9_HUMAN&rb=275&re=474&var=D403Y	NA	getma.org/?cm=var&var=hg19,7,92734204,C,A&fts=all	D403Y	--	--	1																																		SAMD9_uc003umg.2_Missense_Mutation_p.D403Y	1	1		benign(0.411)	p.D403Y	NM_017654	NP_060124		deleterious(0)	1	SAMD9_HUMAN	SAMD9	HGNC	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		C9JKF1_HUMAN		3	1463	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		UPI0000038BC6	403					SNV	SAMD9,missense_variant,p.Asp403Tyr,ENST00000379958,NM_017654.3,NM_001193307.1;SAMD9,missense_variant,p.Asp403Tyr,ENST00000446617,;	uc003umf.2	c.1207G>T	1477/6852	2	2			c.1207G>T						7	SNP	c.(1207-1209)GAT>TAT	36	36			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	Broad	sterile alpha motif domain containing 9			92734204		0.323	ENSG00000205413	13606	g.chr7:92734204C>A		cytoplasm								41.002777	KEEP	10	8	0.444444444	44	22	10	8	0.444444444	46.947656	44	22	0.219512	1	0	0	0	0	1	0	0	0	--	--		0	A			SAMD9_uc003umg.2_Missense_Mutation_p.D403Y	66	GBM-06-0744-TP	p.D403Y	C	TCTAACAAATCTTGATTTCCT	NM_017654	NP_060124	92734204	Q5K651	SAMD9_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.000302)		3	1463	-	A	A	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		Missense_Mutation	403						
SAMD9	0	broad.mit.edu	GRCh37	7	92733004	92733004	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01	TCGA-06-6695-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379958.2:c.2407G>A	p.Glu803Lys	p.E803K	ENST00000379958	NM_017654.3	803	Gaa/Aaa	0			1			T	E/K	uc003umf.2	protein_coding	YES	CCDS34680.1			2407/4770									ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	c.(2407-2409)GAA>AAA			hmmpanther:PTHR16155:SF17,hmmpanther:PTHR16155,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	sterile alpha motif domain containing 9				ENSP00000369292		3-Mar									COSM3412477	3-Mar	.		ENST00000379958	Transcript	1			cytoplasm		ENSG00000205413	g.chr7:92733004C>T	1348			MODERATE		2.075	medium	getma.org/?cm=msa&ty=f&p=SAMD9_HUMAN&rb=675&re=874&var=E803K	NA	getma.org/?cm=var&var=hg19,7,92733004,C,T&fts=all	E803K	--	--	1																																		SAMD9_uc003umg.2_Missense_Mutation_p.E803K	1	1		possibly_damaging(0.463)	p.E803K	NM_017654	NP_060124		deleterious(0.03)	1	SAMD9_HUMAN	SAMD9	HGNC	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		C9JKF1_HUMAN		3	2663	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		UPI0000038BC6	803					SNV	SAMD9,missense_variant,p.Glu803Lys,ENST00000379958,NM_017654.3,NM_001193307.1;SAMD9,missense_variant,p.Glu803Lys,ENST00000446617,;	uc003umf.2	c.2407G>A	2677/6852	2	2			c.2407G>A						7	SNP	c.(2407-2409)GAA>AAA	47	47			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	Broad	sterile alpha motif domain containing 9			92733004		0.353	ENSG00000205413	13606	g.chr7:92733004C>T		cytoplasm								102.007595	KEEP	16	26	-1	55	41	16	26	-1	106.147652	55	41	0.306452	1	0	0	0	0	1	0	0	0	--	--		0	T			SAMD9_uc003umg.2_Missense_Mutation_p.E803K	110	GBM-06-6695-TP	p.E803K	C	TTATCTTGTTCTTCAAAATCA	NM_017654	NP_060124	92733004	Q5K651	SAMD9_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.000302)		3	2663	-	T	T	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		Missense_Mutation	803						
SAMD9	54809		GRCh37	7	92733048	92733048	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000379958.2:c.2363G>A	p.Arg788His	p.R788H	ENST00000379958	NM_017654.3	788	cGt/cAt	0																																																																																																																																																																																																																																												
SAMD9	54809		GRCh37	7	92731863	92731863	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2510-01	TCGA-28-2510-01																				ENST00000379958.2:c.3548C>T	p.Pro1183Leu	p.P1183L	ENST00000379958	NM_017654.3	1183	cCg/cTg	0																																																																																																																																																																																																																																												
SAMD9	54809		GRCh37	7	92730646	92730646	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000379958.2:c.4765G>C	p.Val1589Leu	p.V1589L	ENST00000379958	NM_017654.3	1589	Gtt/Ctt	0																																																																																																																																																																																																																																												
SAMD9L	219285	broad.mit.edu	GRCh37	7	92763379	92763379	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0128-01	TCGA-06-0128-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318238.4:c.1906C>T	p.Pro636Ser	p.P636S	ENST00000318238	NM_152703.2	636	Ccc/Tcc	0			1			A	P/S	uc003umh.1	protein_coding	YES	CCDS34681.1			1906/4755									ovary(4)	4	c.(1906-1908)CCC>TCC			hmmpanther:PTHR16155,hmmpanther:PTHR16155:SF18	sterile alpha motif domain containing 9-like				ENSP00000326247		5-May									COSM3412478	5-May	.		ENST00000318238	Transcript						ENSG00000177409	g.chr7:92763379G>A	1349			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=SAM9L_HUMAN&rb=5&re=1582&var=P636S	NA	getma.org/?cm=var&var=hg19,7,92763379,G,A&fts=all	P636S	--	--	1																																		SAMD9L_uc003umj.1_Missense_Mutation_p.P636S|SAMD9L_uc003umi.1_Missense_Mutation_p.P636S|SAMD9L_uc010lfb.1_Missense_Mutation_p.P636S|SAMD9L_uc003umk.1_Missense_Mutation_p.P636S|SAMD9L_uc010lfc.1_Missense_Mutation_p.P636S|SAMD9L_uc010lfd.1_Missense_Mutation_p.P636S|SAMD9L_uc011khx.1_Intron	1	1		probably_damaging(0.996)	p.P636S	NM_152703	NP_689916		deleterious(0)	1	SAM9L_HUMAN	SAMD9L	HGNC	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		B4E3M1_HUMAN		5	3122	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		UPI000020F567	636					SNV	SAMD9L,missense_variant,p.Pro636Ser,ENST00000318238,NM_152703.2;SAMD9L,missense_variant,p.Pro636Ser,ENST00000411955,;SAMD9L,missense_variant,p.Pro636Ser,ENST00000437805,;SAMD9L,downstream_gene_variant,,ENST00000446033,;SAMD9L,downstream_gene_variant,,ENST00000446959,;SAMD9L,downstream_gene_variant,,ENST00000439952,;SAMD9L,downstream_gene_variant,,ENST00000414791,;	uc003umh.1	c.1906C>T	3123/7134	1	1			c.1906C>T						7	SNP	c.(1906-1908)CCC>TCC	56	56			ovary(4)	4	Broad	sterile alpha motif domain containing 9-like			92763379		0.398	ENSG00000177409	13607	g.chr7:92763379G>A										-73.593574	KEEP	2	3	-1	171	150	2	3	-1	7.424495	171	150	0.01634	1	0	0	0	0	1	0	0	0	--	--		0	A			SAMD9L_uc003umj.1_Missense_Mutation_p.P636S|SAMD9L_uc003umi.1_Missense_Mutation_p.P636S|SAMD9L_uc010lfb.1_Missense_Mutation_p.P636S|SAMD9L_uc003umk.1_Missense_Mutation_p.P636S|SAMD9L_uc010lfc.1_Missense_Mutation_p.P636S|SAMD9L_uc010lfd.1_Missense_Mutation_p.P636S|SAMD9L_uc011khx.1_Intron	14	GBM-06-0128-TP	p.P636S	G	CCACGGGCGGGCAAAAACCTT	NM_152703	NP_689916	92763379	Q8IVG5	SAM9L_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.000302)		5	3122	-	A	A	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		Missense_Mutation	636						
SAMD9L	219285	broad.mit.edu	GRCh37	7	92761300	92761300	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0649-01	TCGA-06-0649-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318238.4:c.3985A>G	p.Arg1329Gly	p.R1329G	ENST00000318238	NM_152703.2	1329	Agg/Ggg	0			1			C	R/G	uc003umh.1	protein_coding	YES	CCDS34681.1			3985/4755									ovary(4)	4	c.(3985-3987)AGG>GGG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16155,hmmpanther:PTHR16155:SF18	sterile alpha motif domain containing 9-like				ENSP00000326247		5-May									COSM2151503	5-May	.		ENST00000318238	Transcript						ENSG00000177409	g.chr7:92761300T>C	1349			MODERATE		2.085	medium	getma.org/?cm=msa&ty=f&p=SAM9L_HUMAN&rb=5&re=1582&var=R1329G	NA	getma.org/?cm=var&var=hg19,7,92761300,T,C&fts=all	R1329G	--	--	1																																		SAMD9L_uc003umj.1_Missense_Mutation_p.R1329G|SAMD9L_uc003umi.1_Missense_Mutation_p.R1329G|SAMD9L_uc010lfb.1_Missense_Mutation_p.R1329G|SAMD9L_uc003umk.1_Missense_Mutation_p.R1329G|SAMD9L_uc010lfc.1_Missense_Mutation_p.R1329G|SAMD9L_uc010lfd.1_Missense_Mutation_p.R1329G|SAMD9L_uc011khx.1_Intron	1	1		probably_damaging(0.978)	p.R1329G	NM_152703	NP_689916		deleterious(0)	1	SAM9L_HUMAN	SAMD9L	HGNC	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		B4E3M1_HUMAN		5	5201	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		UPI000020F567	1329					SNV	SAMD9L,missense_variant,p.Arg1329Gly,ENST00000318238,NM_152703.2;SAMD9L,missense_variant,p.Arg1329Gly,ENST00000411955,;SAMD9L,missense_variant,p.Arg1329Gly,ENST00000437805,;SAMD9L,downstream_gene_variant,,ENST00000446033,;SAMD9L,downstream_gene_variant,,ENST00000446959,;SAMD9L,downstream_gene_variant,,ENST00000439952,;SAMD9L,downstream_gene_variant,,ENST00000414791,;	uc003umh.1	c.3985A>G	5202/7134	3	3			c.3985A>G						7	SNP	c.(3985-3987)AGG>GGG	2	2			ovary(4)	4	Broad	sterile alpha motif domain containing 9-like			92761300		0.388	ENSG00000177409	13607	g.chr7:92761300T>C										122.443946	KEEP	24	32	-1	100	72	24	32	-1	136.410967	100	72	0.229665	1	0	0	0	0	1	0	0	0	--	--		0	C			SAMD9L_uc003umj.1_Missense_Mutation_p.R1329G|SAMD9L_uc003umi.1_Missense_Mutation_p.R1329G|SAMD9L_uc010lfb.1_Missense_Mutation_p.R1329G|SAMD9L_uc003umk.1_Missense_Mutation_p.R1329G|SAMD9L_uc010lfc.1_Missense_Mutation_p.R1329G|SAMD9L_uc010lfd.1_Missense_Mutation_p.R1329G|SAMD9L_uc011khx.1_Intron	62	GBM-06-0649-TP	p.R1329G	T	AGCTTTTTCCTGCAATTCTCC	NM_152703	NP_689916	92761300	Q8IVG5	SAM9L_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.000302)		5	5201	-	C	C	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		Missense_Mutation	1329						
SAMD9L	219285	broad.mit.edu	GRCh37	7	92764397	92764397	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0686-01	TCGA-06-0686-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318238.4:c.888C>A	p.Asn296Lys	p.N296K	ENST00000318238	NM_152703.2	296	aaC/aaA	0			1			T	N/K	uc003umh.1	protein_coding	YES	CCDS34681.1			888/4755									ovary(4)	4	c.(886-888)AAC>AAA			hmmpanther:PTHR16155,hmmpanther:PTHR16155:SF18	sterile alpha motif domain containing 9-like				ENSP00000326247		5-May									COSM3412482	5-May	.		ENST00000318238	Transcript						ENSG00000177409	g.chr7:92764397G>T	1349			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=SAM9L_HUMAN&rb=5&re=1582&var=N296K	NA	getma.org/?cm=var&var=hg19,7,92764397,G,T&fts=all	N296K	--	--	1																																		SAMD9L_uc003umj.1_Missense_Mutation_p.N296K|SAMD9L_uc003umi.1_Missense_Mutation_p.N296K|SAMD9L_uc010lfb.1_Missense_Mutation_p.N296K|SAMD9L_uc003umk.1_Missense_Mutation_p.N296K|SAMD9L_uc010lfc.1_Missense_Mutation_p.N296K|SAMD9L_uc010lfd.1_Missense_Mutation_p.N296K|SAMD9L_uc011khx.1_Intron	1	1		probably_damaging(0.931)	p.N296K	NM_152703	NP_689916		deleterious(0)	1	SAM9L_HUMAN	SAMD9L	HGNC	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		B4E3M1_HUMAN		5	2104	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		UPI000020F567	296					SNV	SAMD9L,missense_variant,p.Asn296Lys,ENST00000318238,NM_152703.2;SAMD9L,missense_variant,p.Asn296Lys,ENST00000411955,;SAMD9L,missense_variant,p.Asn296Lys,ENST00000437805,;SAMD9L,downstream_gene_variant,,ENST00000446033,;SAMD9L,downstream_gene_variant,,ENST00000446959,;SAMD9L,downstream_gene_variant,,ENST00000439952,;SAMD9L,downstream_gene_variant,,ENST00000414791,;	uc003umh.1	c.888C>A	2105/7134	1	1			c.888C>A						7	SNP	c.(886-888)AAC>AAA	12	12			ovary(4)	4	Broad	sterile alpha motif domain containing 9-like			92764397		0.338	ENSG00000177409	13607	g.chr7:92764397G>T										-64.670878	KEEP	6	3	0.666666667	208	133	6	3	0.666666667	14.524066	208	133	0.025237	1	0	0	0	0	1	0	0	0	--	--		0	T			SAMD9L_uc003umj.1_Missense_Mutation_p.N296K|SAMD9L_uc003umi.1_Missense_Mutation_p.N296K|SAMD9L_uc010lfb.1_Missense_Mutation_p.N296K|SAMD9L_uc003umk.1_Missense_Mutation_p.N296K|SAMD9L_uc010lfc.1_Missense_Mutation_p.N296K|SAMD9L_uc010lfd.1_Missense_Mutation_p.N296K|SAMD9L_uc011khx.1_Intron	64	GBM-06-0686-TP	p.N296K	G	ATGGTGTATTGTTCTGCAGAA	NM_152703	NP_689916	92764397	Q8IVG5	SAM9L_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.000302)		5	2104	-	T	T	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		Missense_Mutation	296						
SAMD9L	219285	broad.mit.edu	GRCh37	7	92763951	92763951	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0875-01	TCGA-06-0875-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318238.4:c.1334A>G	p.Glu445Gly	p.E445G	ENST00000318238	NM_152703.2	445	gAg/gGg	0			1			C	E/G	uc003umh.1	protein_coding	YES	CCDS34681.1			1334/4755									ovary(4)	4	c.(1333-1335)GAG>GGG			hmmpanther:PTHR16155,hmmpanther:PTHR16155:SF18	sterile alpha motif domain containing 9-like				ENSP00000326247		5-May									COSM3412481	5-May	.		ENST00000318238	Transcript						ENSG00000177409	g.chr7:92763951T>C	1349			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=SAM9L_HUMAN&rb=5&re=1582&var=E445G	NA	getma.org/?cm=var&var=hg19,7,92763951,T,C&fts=all	E445G	--	--	1																																		SAMD9L_uc003umj.1_Missense_Mutation_p.E445G|SAMD9L_uc003umi.1_Missense_Mutation_p.E445G|SAMD9L_uc010lfb.1_Missense_Mutation_p.E445G|SAMD9L_uc003umk.1_Missense_Mutation_p.E445G|SAMD9L_uc010lfc.1_Missense_Mutation_p.E445G|SAMD9L_uc010lfd.1_Missense_Mutation_p.E445G|SAMD9L_uc011khx.1_Intron	1	1		possibly_damaging(0.885)	p.E445G	NM_152703	NP_689916		deleterious(0)	1	SAM9L_HUMAN	SAMD9L	HGNC	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		B4E3M1_HUMAN		5	2550	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		UPI000020F567	445					SNV	SAMD9L,missense_variant,p.Glu445Gly,ENST00000318238,NM_152703.2;SAMD9L,missense_variant,p.Glu445Gly,ENST00000411955,;SAMD9L,missense_variant,p.Glu445Gly,ENST00000437805,;SAMD9L,downstream_gene_variant,,ENST00000446033,;SAMD9L,downstream_gene_variant,,ENST00000446959,;SAMD9L,downstream_gene_variant,,ENST00000439952,;SAMD9L,downstream_gene_variant,,ENST00000414791,;	uc003umh.1	c.1334A>G	2551/7134	3	3			c.1334A>G						7	SNP	c.(1333-1335)GAG>GGG	52	52			ovary(4)	4	Broad	sterile alpha motif domain containing 9-like			92763951		0.343	ENSG00000177409	13607	g.chr7:92763951T>C										48.213748	KEEP	19	18	-1	172	141	19	18	-1	100.516579	172	141	0.107872	1	0	0	0	0	1	0	0	0	--	--		0	C			SAMD9L_uc003umj.1_Missense_Mutation_p.E445G|SAMD9L_uc003umi.1_Missense_Mutation_p.E445G|SAMD9L_uc010lfb.1_Missense_Mutation_p.E445G|SAMD9L_uc003umk.1_Missense_Mutation_p.E445G|SAMD9L_uc010lfc.1_Missense_Mutation_p.E445G|SAMD9L_uc010lfd.1_Missense_Mutation_p.E445G|SAMD9L_uc011khx.1_Intron	71	GBM-06-0875-TP	p.E445G	T	AGGATCAAACTCCAACACAGC	NM_152703	NP_689916	92763951	Q8IVG5	SAM9L_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.000302)		5	2550	-	C	C	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		Missense_Mutation	445						
SAMD9L	0	broad.mit.edu	GRCh37	7	92761184	92761184	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-19-5954-01	TCGA-19-5954-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318238.4:c.4101A>G	p.Leu1367=	p.L1367=	ENST00000318238	NM_152703.2	1367	ctA/ctG	0			1			C	L	uc003umh.1	protein_coding	YES	CCDS34681.1			4101/4755									ovary(4)	4	c.(4099-4101)CTA>CTG			hmmpanther:PTHR16155,hmmpanther:PTHR16155:SF18	sterile alpha motif domain containing 9-like				ENSP00000326247		5-May									COSM2156741	5-May	.		ENST00000318238	Transcript						ENSG00000177409	g.chr7:92761184T>C	1349			LOW								--	--	1																																		SAMD9L_uc003umj.1_Silent_p.L1367L|SAMD9L_uc003umi.1_Silent_p.L1367L|SAMD9L_uc010lfb.1_Silent_p.L1367L|SAMD9L_uc003umk.1_Silent_p.L1367L|SAMD9L_uc010lfc.1_Silent_p.L1367L|SAMD9L_uc010lfd.1_Silent_p.L1367L|SAMD9L_uc011khx.1_3'UTR	1	1			p.L1367L	NM_152703	NP_689916			1	SAM9L_HUMAN	SAMD9L	HGNC	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		B4E3M1_HUMAN		5	5317	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		UPI000020F567	1367					SNV	SAMD9L,synonymous_variant,p.=,ENST00000318238,NM_152703.2;SAMD9L,synonymous_variant,p.=,ENST00000411955,;SAMD9L,synonymous_variant,p.=,ENST00000437805,;SAMD9L,downstream_gene_variant,,ENST00000446033,;SAMD9L,downstream_gene_variant,,ENST00000446959,;SAMD9L,downstream_gene_variant,,ENST00000439952,;SAMD9L,downstream_gene_variant,,ENST00000414791,;	uc003umh.1	c.4101A>G	5318/7134	4	4			c.4101A>G						7	SNP	c.(4099-4101)CTA>CTG	48	48			ovary(4)	4	Broad	sterile alpha motif domain containing 9-like			92761184		0.383	ENSG00000177409	13607	g.chr7:92761184T>C										231.320094	KEEP	41	44	-1	121	156	41	44	-1	251.692113	121	156	0.237654	1	0	0	0	0	0	0	1	0	--	--		0	C			SAMD9L_uc003umj.1_Silent_p.L1367L|SAMD9L_uc003umi.1_Silent_p.L1367L|SAMD9L_uc010lfb.1_Silent_p.L1367L|SAMD9L_uc003umk.1_Silent_p.L1367L|SAMD9L_uc010lfc.1_Silent_p.L1367L|SAMD9L_uc010lfd.1_Silent_p.L1367L|SAMD9L_uc011khx.1_3'UTR	174	GBM-19-5954-TP	p.L1367L	T	TTTGCTGCAGTAGGAAGGCAT	NM_152703	NP_689916	92761184	Q8IVG5	SAM9L_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.000302)		5	5317	-	C	C	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		Silent	1367						
SAMD9L	0	broad.mit.edu	GRCh37	7	92763418	92763418	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-27-2527-01	TCGA-27-2527-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318238.4:c.1867A>C	p.Lys623Gln	p.K623Q	ENST00000318238	NM_152703.2	623	Aaa/Caa	0			1			G	K/Q	uc003umh.1	protein_coding	YES	CCDS34681.1			1867/4755									ovary(4)	4	c.(1867-1869)AAA>CAA			hmmpanther:PTHR16155,hmmpanther:PTHR16155:SF18	sterile alpha motif domain containing 9-like				ENSP00000326247		5-May									COSM3412479	5-May	.		ENST00000318238	Transcript						ENSG00000177409	g.chr7:92763418T>G	1349			MODERATE		1.955	medium	getma.org/?cm=msa&ty=f&p=SAM9L_HUMAN&rb=5&re=1582&var=K623Q	NA	getma.org/?cm=var&var=hg19,7,92763418,T,G&fts=all	K623Q	--	--	1																																		SAMD9L_uc003umj.1_Missense_Mutation_p.K623Q|SAMD9L_uc003umi.1_Missense_Mutation_p.K623Q|SAMD9L_uc010lfb.1_Missense_Mutation_p.K623Q|SAMD9L_uc003umk.1_Missense_Mutation_p.K623Q|SAMD9L_uc010lfc.1_Missense_Mutation_p.K623Q|SAMD9L_uc010lfd.1_Missense_Mutation_p.K623Q|SAMD9L_uc011khx.1_Intron	1	1		possibly_damaging(0.591)	p.K623Q	NM_152703	NP_689916		deleterious(0.04)	1	SAM9L_HUMAN	SAMD9L	HGNC	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		B4E3M1_HUMAN		5	3083	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		UPI000020F567	623					SNV	SAMD9L,missense_variant,p.Lys623Gln,ENST00000318238,NM_152703.2;SAMD9L,missense_variant,p.Lys623Gln,ENST00000411955,;SAMD9L,missense_variant,p.Lys623Gln,ENST00000437805,;SAMD9L,downstream_gene_variant,,ENST00000446033,;SAMD9L,downstream_gene_variant,,ENST00000446959,;SAMD9L,downstream_gene_variant,,ENST00000439952,;SAMD9L,downstream_gene_variant,,ENST00000414791,;	uc003umh.1	c.1867A>C	3084/7134	3	3			c.1867A>C						7	SNP	c.(1867-1869)AAA>CAA	12	12			ovary(4)	4	Broad	sterile alpha motif domain containing 9-like			92763418		0.383	ENSG00000177409	13607	g.chr7:92763418T>G										-24.022856	KEEP	4	15	-1	171	155	4	15	-1	41.78731	171	155	0.04918	1	0	0	0	0	1	0	0	0	--	--		0	G			SAMD9L_uc003umj.1_Missense_Mutation_p.K623Q|SAMD9L_uc003umi.1_Missense_Mutation_p.K623Q|SAMD9L_uc010lfb.1_Missense_Mutation_p.K623Q|SAMD9L_uc003umk.1_Missense_Mutation_p.K623Q|SAMD9L_uc010lfc.1_Missense_Mutation_p.K623Q|SAMD9L_uc010lfd.1_Missense_Mutation_p.K623Q|SAMD9L_uc011khx.1_Intron	204	GBM-27-2527-TP	p.K623Q	T	GATTTTAGTTTAAGGATAGTG	NM_152703	NP_689916	92763418	Q8IVG5	SAM9L_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.000302)		5	3083	-	G	G	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		Missense_Mutation	623						
SAMD9L	0	broad.mit.edu	GRCh37	7	92763758	92763758	+	stop_gained	Nonsense_Mutation	SNP	A	A	C			TCGA-28-5208-01	TCGA-28-5208-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318238.4:c.1527T>G	p.Tyr509Ter	p.Y509*	ENST00000318238	NM_152703.2	509	taT/taG	0			1			C	Y/*	uc003umh.1	protein_coding	YES	CCDS34681.1			1527/4755									ovary(4)	4	c.(1525-1527)TAT>TAG			hmmpanther:PTHR16155,hmmpanther:PTHR16155:SF18	sterile alpha motif domain containing 9-like				ENSP00000326247		5-May									COSM3412480	5-May	.		ENST00000318238	Transcript						ENSG00000177409	g.chr7:92763758A>C	1349			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,92763758,A,C&fts=all	Y509*	--	--	1																																		SAMD9L_uc003umj.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc003umi.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc010lfb.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc003umk.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc010lfc.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc010lfd.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc011khx.1_Intron	1	1			p.Y509*	NM_152703	NP_689916			1	SAM9L_HUMAN	SAMD9L	HGNC	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		B4E3M1_HUMAN		5	2743	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		UPI000020F567	509					SNV	SAMD9L,stop_gained,p.Tyr509Ter,ENST00000318238,NM_152703.2;SAMD9L,stop_gained,p.Tyr509Ter,ENST00000411955,;SAMD9L,stop_gained,p.Tyr509Ter,ENST00000437805,;SAMD9L,downstream_gene_variant,,ENST00000446033,;SAMD9L,downstream_gene_variant,,ENST00000446959,;SAMD9L,downstream_gene_variant,,ENST00000439952,;SAMD9L,downstream_gene_variant,,ENST00000414791,;	uc003umh.1	c.1527T>G	2744/7134	5	3			c.1527T>G						7	SNP	c.(1525-1527)TAT>TAG	51	51			ovary(4)	4	Broad	sterile alpha motif domain containing 9-like			92763758		0.378	ENSG00000177409	13607	g.chr7:92763758A>C										440.208868	KEEP	77	61	-1	91	112	77	61	-1	442.957258	91	112	0.4	1	0	0	0	0	0	1	0	0	--	--		0	C			SAMD9L_uc003umj.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc003umi.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc010lfb.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc003umk.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc010lfc.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc010lfd.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc011khx.1_Intron	217	GBM-28-5208-TP	p.Y509*	A	CTAGAGGTTTATATGTCTCGC	NM_152703	NP_689916	92763758	Q8IVG5	SAM9L_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.000302)		5	2743	-	C	C	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		Nonsense_Mutation	509						
SAMSN1	64092	broad.mit.edu	GRCh37	21	15858270	15858270	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-2558-01	TCGA-06-2558-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285670.2:c.1289T>A	p.Met430Lys	p.M430K	ENST00000285670	NM_001256370.1	430	aTg/aAg	0			1			T	M/K	uc002yju.1	protein_coding		CCDS42906.1			1085/1122									ovary(3)|pancreas(1)	4	c.(1084-1086)ATG>AAG			hmmpanther:PTHR12301,hmmpanther:PTHR12301:SF4	SAM domain, SH3 domain and nuclear localization				ENSP00000383411		8-Aug									COSM2152612,COSM2152613	8-Aug	.		ENST00000400566	Transcript			negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	ENSG00000155307	g.chr21:15858270A>T	10528			MODERATE		2.2	medium	getma.org/?cm=msa&ty=f&p=SAMN1_HUMAN&rb=304&re=373&var=M362K	NA	getma.org/?cm=var&var=hg19,21,15858270,A,T&fts=all	M362K	--	--	1																																		SAMSN1_uc010gky.1_Missense_Mutation_p.M194K|SAMSN1_uc002yjv.1_Missense_Mutation_p.M430K	1,1			benign(0.269)	p.M362K	NM_022136	NP_071419		deleterious(0.03)	1,1	SAMN1_HUMAN	SAMSN1	HGNC	Q9NSI8	SAMN1_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	S6FRS6_HUMAN		8	1167	-			UPI0000135FDF	362					SNV	SAMSN1,missense_variant,p.Met430Lys,ENST00000285670,NM_001256370.1;SAMSN1,missense_variant,p.Met362Lys,ENST00000400566,NM_022136.4,NM_001286523.1;SAMSN1,missense_variant,p.Met194Lys,ENST00000400564,;	uc002yju.1	c.1085T>A	1167/1888	2	2			c.1085T>A						21	SNP	c.(1084-1086)ATG>AAG	35	35			ovary(3)|pancreas(1)	4	Broad	SAM domain, SH3 domain and nuclear localization			15858270		0.398	ENSG00000155307	13610	g.chr21:15858270A>T	negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding							315.88182	KEEP	58	54	-1	104	109	58	54	-1	320.876449	104	109	0.356364	1	0	0	0	0	1	0	0	0	--	--		0	T			SAMSN1_uc010gky.1_Missense_Mutation_p.M194K|SAMSN1_uc002yjv.1_Missense_Mutation_p.M430K	82	GBM-06-2558-TP	p.M362K	A	CTTATGTACCATGTCAGACAG	NM_022136	NP_071419	15858270	Q9NSI8	SAMN1_HUMAN	0		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	8	1167	-	T	T			Missense_Mutation	362						
SAMSN1	0	broad.mit.edu	GRCh37	21	15889263	15889263	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-2623-01	TCGA-19-2623-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400566.1:c.229A>G	p.Met77Val	p.M77V	ENST00000400566	NM_022136.4	77	Atg/Gtg	0			1			C	M/V	uc002yju.1	protein_coding		CCDS42906.1			229/1122									ovary(3)|pancreas(1)	4	c.(229-231)ATG>GTG			hmmpanther:PTHR12301,hmmpanther:PTHR12301:SF4,Pfam_domain:PF12485	SAM domain, SH3 domain and nuclear localization				ENSP00000383411		8-Mar									COSM3405316,COSM3405317	8-Mar	.		ENST00000400566	Transcript			negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	ENSG00000155307	g.chr21:15889263T>C	10528			MODERATE		2.915	medium	getma.org/?cm=msa&ty=f&p=SAMN1_HUMAN&rb=15&re=164&var=M77V	NA	getma.org/?cm=var&var=hg19,21,15889263,T,C&fts=all	M77V	--	--	1																																		SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Missense_Mutation_p.M145V	1,1			possibly_damaging(0.728)	p.M77V	NM_022136	NP_071419		deleterious(0)	1,1	SAMN1_HUMAN	SAMSN1	HGNC	Q9NSI8	SAMN1_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	S6FRS6_HUMAN		3	311	-			UPI0000135FDF	77					SNV	SAMSN1,missense_variant,p.Met145Val,ENST00000285670,NM_001256370.1;SAMSN1,missense_variant,p.Met77Val,ENST00000400566,NM_022136.4,NM_001286523.1;SAMSN1,intron_variant,,ENST00000400564,;SAMSN1,downstream_gene_variant,,ENST00000493640,;	uc002yju.1	c.229A>G	311/1888	4	4			c.229A>G						21	SNP	c.(229-231)ATG>GTG	44	44			ovary(3)|pancreas(1)	4	Broad	SAM domain, SH3 domain and nuclear localization			15889263		0.338	ENSG00000155307	13610	g.chr21:15889263T>C	negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding							12.5807	KEEP	5	5	-1	49	45	5	5	-1	27.795595	49	45	0.103093	1	0	0	0	0	1	0	0	0	--	--		0	C			SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Missense_Mutation_p.M145V	163	GBM-19-2623-TP	p.M77V	T	TTTTTCTTCATTGTCCATGAA	NM_022136	NP_071419	15889263	Q9NSI8	SAMN1_HUMAN	0		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	3	311	-	C	C			Missense_Mutation	77						
SAPCD2	0	broad.mit.edu	GRCh37	9	139959160	139959160	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01	TCGA-14-1450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409687.3:c.1136G>A	p.Arg379His	p.R379H	ENST00000409687	NM_178448.3	379	cGc/cAc	0			1			T	R/H	uc011men.1	protein_coding	YES	CCDS7027.2			1136/1185									skin(1)	1	c.(1135-1137)CGC>CAC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14907,hmmpanther:PTHR14907:SF3	tumor specificity and mitosis phase-dependent				ENSP00000386348		6-Jun									COSM3413481	6-Jun	.		ENST00000409687	Transcript				cytoplasm|nucleus		ENSG00000186193	g.chr9:139959160C>T	28055			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=SAPC2_HUMAN&rb=201&re=394&var=R379H	NA	getma.org/?cm=var&var=hg19,9,139959160,C,T&fts=all	R379H	--	--	1																																OREG0019628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1	1		probably_damaging(0.999)	p.R379H	NM_178448	NP_848543		deleterious(0.01)	1	SAPC2_HUMAN	SAPCD2	HGNC	Q86UD0	CI140_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;3.02e-05)|Epithelial(140;0.000499)			6	1252	-	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	UPI00005A8C06	379			Potential.		SNV	SAPCD2,missense_variant,p.Arg379His,ENST00000409687,NM_178448.3;RP11-229P13.23,downstream_gene_variant,,ENST00000456356,;RP11-229P13.22,downstream_gene_variant,,ENST00000435463,;	uc011men.1	c.1136G>A	1264/3843	1	1			c.1136G>A						9	SNP	c.(1135-1137)CGC>CAC	14	14			skin(1)	1	Broad	tumor specificity and mitosis phase-dependent			139959160		0.647	ENSG00000186193	2412	g.chr9:139959160C>T		cytoplasm|nucleus								12.771117	KEEP	3	3	-1	7	3	3	3	-1	13.02273	7	3	0.357143	1	0	0	0	0	1	0	0	0	--	--		0	T	OREG0019628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		145	GBM-14-1450-TP	p.R379H	C	GCTCAGGGCGCGGGCCTCAAA	NM_178448	NP_848543	139959160	Q86UD0	CI140_HUMAN	0	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;3.02e-05)|Epithelial(140;0.000499)	6	1252	-	T	T	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	Missense_Mutation	379			Potential.			
SARS2	0	broad.mit.edu	GRCh37	19	39408365	39408365	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-14-0787-01	TCGA-14-0787-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221431.6:c.1159delC	p.Arg387GlyfsTer64	p.R387Gfs*64	ENST00000221431	NM_017827.3	387	Cgg/gg	0			1			-	R/X	uc002oka.2	protein_coding		CCDS33017.1			1159/1557									ovary(1)|pancreas(1)|skin(1)	3	c.(1159-1161)CGGfs			PROSITE_profiles:PS50862,hmmpanther:PTHR11778:SF5,hmmpanther:PTHR11778,Pfam_domain:PF00587,Gene3D:3.30.930.10,TIGRFAM_domain:TIGR00414,PIRSF_domain:PIRSF001529,Superfamily_domains:SSF55681,Prints_domain:PR00981	seryl-tRNA synthetase 2 isoform b precursor				ENSP00000221431		16-Dec										16-Dec	.		ENST00000221431	Transcript	1		seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity	ENSG00000104835	g.chr19:39408365delG	17697			HIGH								--	--	1																																		SARS2_uc002ojz.2_Frame_Shift_Del_p.R197fs|SARS2_uc010xup.1_Frame_Shift_Del_p.R389fs|SARS2_uc002okb.2_Frame_Shift_Del_p.R387fs|SARS2_uc010xuq.1_Frame_Shift_Del_p.R387fs|SARS2_uc010xur.1_RNA					p.R387fs	NM_017827	NP_060297				SYSM_HUMAN	SARS2	HGNC	Q9NP81	SYSM_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		M0R259_HUMAN		12	1319	-	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		UPI000000DA00	387					deletion	SARS2,frameshift_variant,p.Arg387GlyfsTer64,ENST00000221431,NM_017827.3;CTC-360G5.8,frameshift_variant,p.Arg457GlyfsTer64,ENST00000599996,;SARS2,frameshift_variant,p.Arg387GlyfsTer64,ENST00000448145,;SARS2,frameshift_variant,p.Arg387GlyfsTer64,ENST00000430193,;SARS2,frameshift_variant,p.Arg197GlyfsTer64,ENST00000594171,;SARS2,frameshift_variant,p.Arg389GlyfsTer64,ENST00000600042,NM_001145901.1;SARS2,frameshift_variant,p.Arg35GlyfsTer64,ENST00000598831,;SARS2,splice_region_variant,,ENST00000597490,;SARS2,downstream_gene_variant,,ENST00000455102,;SARS2,downstream_gene_variant,,ENST00000598598,;SARS2,upstream_gene_variant,,ENST00000594259,;SARS2,downstream_gene_variant,,ENST00000593754,;SARS2,downstream_gene_variant,,ENST00000598343,;SARS2,downstream_gene_variant,,ENST00000600448,;SARS2,downstream_gene_variant,,ENST00000598563,;SARS2,downstream_gene_variant,,ENST00000602034,;	uc002oka.2	c.1159delC	1319/2057	5	5			c.1159delC						19	DEL	c.(1159-1161)CGGfs	50	50			ovary(1)|pancreas(1)|skin(1)	3	Broad	seryl-tRNA synthetase 2 isoform b precursor			39408365		0.637	ENSG00000104835	13625	g.chr19:39408365delG	seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity																				0.29	1	1	0	1	0	0	0	0	0	--	--		0	-			SARS2_uc002ojz.2_Frame_Shift_Del_p.R197fs|SARS2_uc010xup.1_Frame_Shift_Del_p.R389fs|SARS2_uc002okb.2_Frame_Shift_Del_p.R387fs|SARS2_uc010xuq.1_Frame_Shift_Del_p.R387fs|SARS2_uc010xur.1_RNA	135	GBM-14-0787-TP	p.R387fs	G	TCTCCACACCGGAAGTGCAAG	NM_017827	NP_060297	39408365	Q9NP81	SYSM_HUMAN	0	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		12	1319	-	-	-	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Frame_Shift_Del	387						
SART1	0	broad.mit.edu	GRCh37	11	65743897	65743897	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01	TCGA-14-1823-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312397.5:c.1604G>A	p.Arg535His	p.R535H	ENST00000312397	NM_005146.4	535	cGc/cAc	0			1			A	R/H	uc001ogl.2	protein_coding	YES	CCDS31611.1			1604/2403									ovary(1)	1	c.(1603-1605)CGC>CAC			Pfam_domain:PF03343,hmmpanther:PTHR14152,hmmpanther:PTHR14152:SF5	squamous cell carcinoma antigen recognized by T				ENSP00000310448		13/20	1.65E-05			0.000138		1.85E-05			rs774044800,COSM3398053	13/20	.		ENST00000312397	Transcript			cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol		ENSG00000175467	g.chr11:65743897G>A	10538			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=SNUT1_HUMAN&rb=116&re=754&var=R535H	NA	getma.org/?cm=var&var=hg19,11,65743897,G,A&fts=all	R535H	--	--	1																																			0,1	1		possibly_damaging(0.616)	p.R535H	NM_005146	NP_005137		tolerated(0.11)	0,1	SNUT1_HUMAN	SART1	HGNC	O43290	SNUT1_HUMAN					13	1696	+			UPI00000732D5	535					SNV	SART1,missense_variant,p.Arg535His,ENST00000312397,NM_005146.4;SART1,upstream_gene_variant,,ENST00000533386,;SART1,upstream_gene_variant,,ENST00000528137,;SART1,upstream_gene_variant,,ENST00000529580,;	uc001ogl.2	c.1604G>A	1696/3293	2	2			c.1604G>A						11	SNP	c.(1603-1605)CGC>CAC	39	39			ovary(1)	1	Broad	squamous cell carcinoma antigen recognized by T			65743897		0.637	ENSG00000175467	13626	g.chr11:65743897G>A	cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol								22.594543	KEEP	4	5	-1	14	6	4	5	-1	22.8557	14	6	0.380952	1	0	0	0	0	1	0	0	0	--	--		0	A				147	GBM-14-1823-TP	p.R535H	G	CTGGAGTCTCGCCAGCGGGGC	NM_005146	NP_005137	65743897	O43290	SNUT1_HUMAN	0			13	1696	+	A	A			Missense_Mutation	535						
SASH1	23328	broad.mit.edu	GRCh37	6	148865365	148865365	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs145411864		TCGA-02-0047-01	TCGA-02-0047-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367467.3:c.2759G>A	p.Arg920His	p.R920H	ENST00000367467	NM_015278.3	920	cGc/cAc	0	A:0.0002		1			A	R/H	uc003qme.1	protein_coding	YES	CCDS5212.1			2759/3744									central_nervous_system(1)	1	c.(2758-2760)CGC>CAC			hmmpanther:PTHR12301,hmmpanther:PTHR12301:SF3	SAM and SH3 domain containing 1			A:0.0002	ENSP00000356437		18/20	8.24E-05	9.70E-05	8.65E-05	0.000116		0.000105			rs145411864,COSM3410651	18/20	.		ENST00000367467	Transcript					protein binding	ENSG00000111961	g.chr6:148865365G>A	19182			MODERATE		-0.205	neutral	getma.org/?cm=msa&ty=f&p=SASH1_HUMAN&rb=896&re=1095&var=R920H	NA	getma.org/?cm=var&var=hg19,6,148865365,G,A&fts=all	R920H	--	--	1																																		SASH1_uc011eeb.1_Missense_Mutation_p.R681H|SASH1_uc003qmf.1_Missense_Mutation_p.R330H	0,1	1		benign(0.191)	p.R920H	NM_015278	NP_056093		tolerated_low_confidence(0.56)	0,1	SASH1_HUMAN	SASH1	HGNC	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)			18	3234	+		Ovarian(120;0.0169)	UPI00003519AE	920					SNV	SASH1,missense_variant,p.Arg920His,ENST00000367467,NM_015278.3;	uc003qme.1	c.2759G>A	3234/7711	2	2			c.2759G>A						6	SNP	c.(2758-2760)CGC>CAC	29	29			central_nervous_system(1)	1	Broad	SAM and SH3 domain containing 1			148865365		0.517	ENSG00000111961	13628	g.chr6:148865365G>A			protein binding							59.075548	KEEP	19	18	-1	97	95	19	18	-1	78.993503	97	95	0.172589	1	0	0	0	0	1	0	0	0	--	--		0	A			SASH1_uc011eeb.1_Missense_Mutation_p.R681H|SASH1_uc003qmf.1_Missense_Mutation_p.R330H	3	GBM-02-0047-TP	p.R920H	G	GCCTCTGGTCGCGGCCTGTCA	NM_015278	NP_056093	148865365	O94885	SASH1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	18	3234	+	A	A		Ovarian(120;0.0169)	Missense_Mutation	920						
SASH1	23328	broad.mit.edu	GRCh37	6	148854037	148854037	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01	TCGA-06-0168-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367467.3:c.1669G>A	p.Gly557Arg	p.G557R	ENST00000367467	NM_015278.3	557	Ggg/Agg	0			1			A	G/R	uc003qme.1	protein_coding	YES	CCDS5212.1			1669/3744									central_nervous_system(1)	1	c.(1669-1671)GGG>AGG			Gene3D:2.30.30.40,hmmpanther:PTHR12301,hmmpanther:PTHR12301:SF3,SMART_domains:SM00326,Superfamily_domains:SSF50044	SAM and SH3 domain containing 1				ENSP00000356437		14/20									rs769499189,COSM294794	14/20	.		ENST00000367467	Transcript					protein binding	ENSG00000111961	g.chr6:148854037G>A	19182			MODERATE		2.98	medium	getma.org/?cm=msa&ty=f&p=SASH1_HUMAN&rb=557&re=614&var=G557R	getma.org/pdb.php?prot=SASH1_HUMAN&from=557&to=614&var=G557R	getma.org/?cm=var&var=hg19,6,148854037,G,A&fts=all	G557R	--	--	1																																		SASH1_uc011eeb.1_Missense_Mutation_p.G318R|SASH1_uc003qmf.1_5'UTR	0,1	1		probably_damaging(0.998)	p.G557R	NM_015278	NP_056093		deleterious(0)	0,1	SASH1_HUMAN	SASH1	HGNC	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)			14	2144	+		Ovarian(120;0.0169)	UPI00003519AE	557			SH3.		SNV	SASH1,missense_variant,p.Gly557Arg,ENST00000367467,NM_015278.3;	uc003qme.1	c.1669G>A	2144/7711	1	1			c.1669G>A						6	SNP	c.(1669-1671)GGG>AGG	54	54			central_nervous_system(1)	1	Broad	SAM and SH3 domain containing 1			148854037		0.582	ENSG00000111961	13628	g.chr6:148854037G>A			protein binding							200.452474	KEEP	47	35	-1	109	105	47	35	-1	211.325356	109	105	0.28	1	0	0	0	0	1	0	0	0	--	--		0	A			SASH1_uc011eeb.1_Missense_Mutation_p.G318R|SASH1_uc003qmf.1_5'UTR	33	GBM-06-0168-TP	p.G557R	G	CCCGTTCTGCGGGCGTGCCAG	NM_015278	NP_056093	148854037	O94885	SASH1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	14	2144	+	A	A		Ovarian(120;0.0169)	Missense_Mutation	557			SH3.			
SATL1	0	broad.mit.edu	GRCh37	X	84362599	84362599	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01	TCGA-12-0692-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395409.3:c.815C>T	p.Pro272Leu	p.P272L	ENST00000395409		272	cCa/cTa	0			1			A	P/L	uc011mqx.1	protein_coding					815/1527									breast(2)	2	c.(1375-1377)CCA>CTA			hmmpanther:PTHR10545,hmmpanther:PTHR10545:SF28	spermidine/spermine N1-acetyl transferase-like 1				ENSP00000378804		6-Jan									COSM2154279,COSM2154280	6-Jan	.		ENST00000395409	Transcript					N-acetyltransferase activity	ENSG00000184788	g.chrX:84362599G>A	27992			MODERATE		1.14	low	getma.org/?cm=msa&ty=f&p=SATL1_HUMAN&rb=1&re=329&var=P272L	NA	getma.org/?cm=var&var=hg19,X,84362599,G,A&fts=all	P272L	--	--	1																																		SATL1_uc004een.2_Missense_Mutation_p.P459L	1,1			possibly_damaging(0.829)	p.P459L	NM_001163541	NP_001157013		tolerated(0.69)	1,1	SATL1_HUMAN	SATL1	HGNC	Q86VE3	SATL1_HUMAN					1	1376	-			UPI0000F534AB	272			Gln-rich.		SNV	SATL1,missense_variant,p.Pro459Leu,ENST00000509231,;SATL1,missense_variant,p.Pro272Leu,ENST00000395409,;SATL1,missense_variant,p.Pro272Leu,ENST00000332921,NM_001012980.2;	uc011mqx.1	c.1376C>T	1376/2192	2	2			c.1376C>T						23	SNP	c.(1375-1377)CCA>CTA	29	29			breast(2)	2	Broad	spermidine/spermine N1-acetyl transferase-like 1			84362599		0.592	ENSG00000184788	13635	g.chrX:84362599G>A			N-acetyltransferase activity							221.788146	KEEP	56	29	-1	72	33	56	29	-1	221.978291	72	33	0.464286	1	0	0	0	0	1	0	0	0	--	--		0	A			SATL1_uc004een.2_Missense_Mutation_p.P459L	122	GBM-12-0692-TP	p.P459L	G	GCTAGTGCCTGGTTGTCTCAT	NM_001163541	NP_001157013	84362599	Q86VE3	SATL1_HUMAN	0			1	1376	-	A	A			Missense_Mutation	272			Gln-rich.			
SATL1	0	broad.mit.edu	GRCh37	X	84349151	84349151	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-27-1831-01	TCGA-27-1831-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395409.3:c.1298delT	p.Val433AlafsTer8	p.V433Afs*8	ENST00000395409		433	gTc/gc	0			1			-	V/X	uc011mqx.1	protein_coding					1298/1527									breast(2)	2	c.(1858-1860)GTCfs			PROSITE_profiles:PS51186,hmmpanther:PTHR10545,hmmpanther:PTHR10545:SF28,Pfam_domain:PF00583,Gene3D:3.40.630.30,Superfamily_domains:SSF55729	spermidine/spermine N1-acetyl transferase-like 1				ENSP00000378804		6-Apr										6-Apr	.		ENST00000395409	Transcript					N-acetyltransferase activity	ENSG00000184788	g.chrX:84349151delA	27992			HIGH								--	--	1																																		SATL1_uc004een.2_Frame_Shift_Del_p.V620fs					p.V620fs	NM_001163541	NP_001157013				SATL1_HUMAN	SATL1	HGNC	Q86VE3	SATL1_HUMAN					4	1859	-			UPI0000F534AB	433			N-acetyltransferase.|Acetyl-CoA binding (By similarity).		deletion	SATL1,frameshift_variant,p.Val620AlafsTer63,ENST00000509231,;SATL1,frameshift_variant,p.Val433AlafsTer8,ENST00000395409,;SATL1,frameshift_variant,p.Val433AlafsTer63,ENST00000332921,NM_001012980.2;	uc011mqx.1	c.1859delT	1859/2192	5	5			c.1859delT						23	DEL	c.(1858-1860)GTCfs	22	22			breast(2)	2	Broad	spermidine/spermine N1-acetyl transferase-like 1			84349151		0.338	ENSG00000184788	13635	g.chrX:84349151delA			N-acetyltransferase activity																				0.62	1	1	0	1	0	0	0	0	0	--	--		0	-			SATL1_uc004een.2_Frame_Shift_Del_p.V620fs	190	GBM-27-1831-TP	p.V620fs	A	AGCTTGTGTGACATAAAAGTC	NM_001163541	NP_001157013	84349151	Q86VE3	SATL1_HUMAN	0			4	1859	-	-	-			Frame_Shift_Del	433			N-acetyltransferase.|Acetyl-CoA binding (By similarity).			
SATL1	0	broad.mit.edu	GRCh37	X	84347411	84347411	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-28-5220-01	TCGA-28-5220-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395409.3:c.1513G>C	p.Ala505Pro	p.A505P	ENST00000395409		505	Gca/Cca	0			1			G	A/P	uc011mqx.1	protein_coding					1513/1527									breast(2)	2	c.(2074-2076)GCA>CCA			PROSITE_profiles:PS51186,hmmpanther:PTHR10545,hmmpanther:PTHR10545:SF28,Gene3D:3.40.630.30	spermidine/spermine N1-acetyl transferase-like 1				ENSP00000378804		6-Jun	2.69E-05					0.000126			rs781101928,COSM3406634	6-Jun	.		ENST00000395409	Transcript					N-acetyltransferase activity	ENSG00000184788	g.chrX:84347411C>G	27992			MODERATE								--	--	1																																		SATL1_uc004een.2_3'UTR	0,1			probably_damaging(0.997)	p.A692P	NM_001163541	NP_001157013		deleterious(0.01)	0,1	SATL1_HUMAN	SATL1	HGNC	Q86VE3	SATL1_HUMAN					6	2074	-			UPI0000F534AB	505			N-acetyltransferase.		SNV	SATL1,missense_variant,p.Ala505Pro,ENST00000395409,;SATL1,3_prime_UTR_variant,,ENST00000509231,;SATL1,3_prime_UTR_variant,,ENST00000332921,NM_001012980.2;APOOL,downstream_gene_variant,,ENST00000373173,NM_198450.5;	uc011mqx.1	c.2074G>C	2074/2192	3	3			c.2074G>C						23	SNP	c.(2074-2076)GCA>CCA	49	49			breast(2)	2	Broad	spermidine/spermine N1-acetyl transferase-like 1			84347411		0.458	ENSG00000184788	13635	g.chrX:84347411C>G			N-acetyltransferase activity							5.0412	KEEP	1	1	-1	4	7	1	1	-1	6.530505	4	7	0.153846	1	0	0	0	0	1	0	0	0	--	--		0	G			SATL1_uc004een.2_3'UTR	226	GBM-28-5220-TP	p.A692P	C	TCTTCCCATGCCATGTCCAGG	NM_001163541	NP_001157013	84347411	Q86VE3	SATL1_HUMAN	0			6	2074	-	G	G			Missense_Mutation	505			N-acetyltransferase.			
SATL1	0	broad.mit.edu	GRCh37	X	84363108	84363108	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-74-6573-01	TCGA-74-6573-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395409.3:c.306G>A	p.Val102=	p.V102=	ENST00000395409		102	gtG/gtA	0			1			T	V	uc011mqx.1	protein_coding					306/1527									breast(2)	2	c.(865-867)GTG>GTA			hmmpanther:PTHR10545,hmmpanther:PTHR10545:SF28	spermidine/spermine N1-acetyl transferase-like 1				ENSP00000378804		6-Jan									COSM3406635,COSM3406636	6-Jan	.		ENST00000395409	Transcript					N-acetyltransferase activity	ENSG00000184788	g.chrX:84363108C>T	27992			LOW								--	--	1																																		SATL1_uc004een.2_Silent_p.V289V	1,1				p.V289V	NM_001163541	NP_001157013			1,1	SATL1_HUMAN	SATL1	HGNC	Q86VE3	SATL1_HUMAN					1	867	-			UPI0000F534AB	102			Gln-rich.		SNV	SATL1,synonymous_variant,p.=,ENST00000509231,;SATL1,synonymous_variant,p.=,ENST00000395409,;SATL1,synonymous_variant,p.=,ENST00000332921,NM_001012980.2;	uc011mqx.1	c.867G>A	867/2192	2	2			c.867G>A						23	SNP	c.(865-867)GTG>GTA	22	22			breast(2)	2	Broad	spermidine/spermine N1-acetyl transferase-like 1			84363108		0.463	ENSG00000184788	13635	g.chrX:84363108C>T			N-acetyltransferase activity							22.087933	KEEP	1	12	-1	38	26	1	12	-1	29.037152	38	26	0.166667	1	0	0	0	0	0	0	1	0	--	--		0	T			SATL1_uc004een.2_Silent_p.V289V	260	GBM-74-6573-TP	p.V289V	C	GTTTCATGTCCACTTGGTTCA	NM_001163541	NP_001157013	84363108	Q86VE3	SATL1_HUMAN	0			1	867	-	T	T			Silent	102			Gln-rich.			
SBF1	6305	broad.mit.edu	GRCh37	22	50895482	50895483	+	inframe_insertion	In_Frame_Ins	INS	-	-	GAGGCC			TCGA-06-5413-01	TCGA-06-5413-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380817.3:c.3879_3884dup	p.Ala1294_Ser1295dup	p.A1294_S1295dup	ENST00000380817	NM_002972.2	1294	tcc/tcGGCCTCc	0			1			GAGGCC	S/SAS	uc003blh.2	protein_coding	YES	CCDS14091.2			3884-3885/5682										0	c.(3883-3885)TCC>TCGGCCTCC			PROSITE_profiles:PS51339,hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF43,Pfam_domain:PF06602	SET binding factor 1				ENSP00000370196		29/41	9.33E-05					0.000382			rs761546537	29/41	.		ENST00000380817	Transcript	1		protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	ENSG00000100241	g.chr22:50895482_50895483insGAGGCC	10542			MODERATE								--	--	1																																		SBF1_uc003ble.2_5'Flank|SBF1_uc003blf.2_5'Flank|SBF1_uc011arx.1_Intron		1			p.1295_1295S>SAS	NM_002972	NP_002963				MTMR5_HUMAN	SBF1	HGNC	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Q86TK5_HUMAN		29	4079_4080	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	UPI00001D69ED	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					insertion	SBF1,inframe_insertion,p.Ala1294_Ser1295dup,ENST00000380817,NM_002972.2;SBF1,intron_variant,,ENST00000348911,;SBF1,intron_variant,,ENST00000390679,;SBF1,upstream_gene_variant,,ENST00000418590,;SBF1,non_coding_transcript_exon_variant,,ENST00000476293,;SBF1,upstream_gene_variant,,ENST00000470434,;	uc003blh.2	c.3884_3885insGGCCTC	4068-4069/8008	5	5			c.3884_3885insGGCCTC						22	INS	c.(3883-3885)TCC>TCGGCCTCC	NaN	0				0	Broad	SET binding factor 1			50895483		0.678	ENSG00000100241	13638	g.chr22:50895482_50895483insGAGGCC	protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity																				0.45	1	0	0	1	1	0	0	0	0	--	--		0	GAGGCC			SBF1_uc003ble.2_5'Flank|SBF1_uc003blf.2_5'Flank|SBF1_uc011arx.1_Intron	96	GBM-06-5413-TP	p.1295_1295S>SAS	-	CGGTCCGTCTGGAGGCCGAGGC	NM_002972	NP_002963	50895482	O95248	MTMR5_HUMAN	0		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	29	4079_4080	-	GAGGCC	GAGGCC		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	In_Frame_Ins	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						
SBK2	0	broad.mit.edu	GRCh37	19	56047417	56047417	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01	TCGA-12-0619-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344158.3:c.245G>A	p.Arg82His	p.R82H	ENST00000344158		82	cGt/cAt	0			1			T	R/H	uc010ygc.1	protein_coding		CCDS42631.1			245/1047										0	c.(244-246)CGT>CAT			Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:3.30.200.20,PROSITE_patterns:PS00107,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF293,PROSITE_profiles:PS50011	SH3-binding domain kinase family, member 2				ENSP00000345044		3-Jan	3.35E-05		0.000264			1.60E-05			rs765741979,COSM3404644,COSM3404645	3-Jan	.		ENST00000344158	Transcript					ATP binding|protein serine/threonine kinase activity	ENSG00000187550	g.chr19:56047417C>T	34416			MODERATE		2.32	medium	getma.org/?cm=msa&ty=f&p=SBK2_HUMAN&rb=62&re=329&var=R82H	getma.org/pdb.php?prot=SBK2_HUMAN&from=62&to=329&var=R82H	getma.org/?cm=var&var=hg19,19,56047417,C,T&fts=all	R82H	--	--	1																																			0,1,1			benign(0.095)	p.R82H	NM_001101401	NP_001094871		tolerated(0.07)	0,1,1	SBK2_HUMAN	SBK2	HGNC	P0C263	SBK2_HUMAN					1	245	-			UPI00015DFA43	82			Protein kinase.		SNV	SBK2,missense_variant,p.Arg82His,ENST00000413299,NM_001101401.2;SBK2,missense_variant,p.Arg82His,ENST00000344158,;SBK3,downstream_gene_variant,,ENST00000420723,NM_001199824.2;	uc010ygc.1	c.245G>A	245/1047	2	2			c.245G>A						19	SNP	c.(244-246)CGT>CAT	41	41				0	Broad	SH3-binding domain kinase family, member 2			56047417		0.572	ENSG00000187550	13641	g.chr19:56047417C>T			ATP binding|protein serine/threonine kinase activity			53			53	5.642201	KEEP	3	3	-1	15	27	3	3	-1	12.370428	15	27	0.111111	1	0	0	0	0	1	0	0	0	--	--		0	T				120	GBM-12-0619-TP	p.R82H	C	ACCTTTCTGACGATGGGTGAC	NM_001101401	NP_001094871	56047417	P0C263	SBK2_HUMAN	0			1	245	-	T	T			Missense_Mutation	82			Protein kinase.			
SBK2	646643		GRCh37	19	56047476	56047476	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000413299.1:c.186C>T	p.Tyr62=	p.Y62=	ENST00000413299	NM_001101401.2	62	taC/taT	0																																																																																																																																																																																																																																												
SBNO1	0	broad.mit.edu	GRCh37	12	123794321	123794321	+	synonymous_variant	Silent	SNP	C	C	T	rs145298684	by1000genomes	TCGA-27-1830-01	TCGA-27-1830-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000420886.2:c.3378G>A	p.Ala1126=	p.A1126=	ENST00000420886	NM_001167856.1	1126	gcG/gcA	0		T:0.0023	1	T:0		T	A	uc010tap.1	protein_coding	YES	CCDS53844.1			3378/4182									breast(5)|skin(2)|ovary(1)|kidney(1)	9	c.(3376-3378)GCG>GCA			Pfam_domain:PF13871,hmmpanther:PTHR12706,hmmpanther:PTHR12706:SF8	sno, strawberry notch homolog 1		T:0		ENSP00000387361	T:0	25/31	5.77E-05	0.000385				3.00E-05		6.06E-05	rs145298684,COSM3398486	25/31	.		ENST00000420886	Transcript		T:0.0006			ATP binding|DNA binding|hydrolase activity	ENSG00000139697	g.chr12:123794321C>T	22973			LOW								--	--	1																																		SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Silent_p.A1125A|SBNO1_uc010taq.1_Silent_p.A77A|SBNO1_uc001ues.1_Silent_p.A77A	0,1	1			p.A1126A	NM_018183	NP_060653	T:0		0,1	SBNO1_HUMAN	SBNO1	HGNC	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	Q9NVJ3_HUMAN		25	3378	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		UPI00001FB922	1126					SNV	SBNO1,synonymous_variant,p.=,ENST00000420886,NM_001167856.1;SBNO1,synonymous_variant,p.=,ENST00000267176,NM_018183.3;SBNO1,synonymous_variant,p.=,ENST00000602750,;SBNO1,synonymous_variant,p.=,ENST00000602398,;	uc010tap.1	c.3378G>A	3378/10981	1	1			c.3378G>A						12	SNP	c.(3376-3378)GCG>GCA	11	11			breast(5)|skin(2)|ovary(1)|kidney(1)	9	Broad	sno, strawberry notch homolog 1			123794321		0.358	ENSG00000139697	13642	g.chr12:123794321C>T			ATP binding|DNA binding|hydrolase activity							223.224353	KEEP	49	33	-1	124	119	49	33	-1	238.522939	124	119	0.261745	1	0	0	0	0	0	0	1	0	--	--		0	T			SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Silent_p.A1125A|SBNO1_uc010taq.1_Silent_p.A77A|SBNO1_uc001ues.1_Silent_p.A77A	189	GBM-27-1830-TP	p.A1126A	C	TAAGTGTGTCCGCAAAATACT	NM_018183	NP_060653	123794321	A3KN83	SBNO1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	25	3378	-	T	T	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Silent	1126						
SBNO1	55206		GRCh37	12	123782584	123782584	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000420886.2:c.3980G>A	p.Gly1327Asp	p.G1327D	ENST00000420886	NM_001167856.1	1327	gGc/gAc	0																																																																																																																																																																																																																																												
SBNO2	0	broad.mit.edu	GRCh37	19	1113547	1113547	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-12-0688-01	TCGA-12-0688-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361757.3:c.2234A>G	p.Gln745Arg	p.Q745R	ENST00000361757	NM_014963.2	745	cAg/cGg	0			1			C	Q/R	uc002lrk.3	protein_coding	YES	CCDS45894.1			2234/4101										0	c.(2233-2235)CAG>CGG			Pfam_domain:PF13871,hmmpanther:PTHR12706,hmmpanther:PTHR12706:SF5	strawberry notch homolog 2 isoform 1				ENSP00000354733		19/32									COSM2153932,COSM2153933	19/32	.		ENST00000361757	Transcript			macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			ENSG00000064932	g.chr19:1113547T>C	29158			MODERATE		0.97	low	getma.org/?cm=msa&ty=f&p=SBNO2_HUMAN&rb=732&re=1010&var=Q745R	NA	getma.org/?cm=var&var=hg19,19,1113547,T,C&fts=all	Q745R	--	--	1																																		SBNO2_uc002lrj.3_Missense_Mutation_p.Q688R|SBNO2_uc010dse.2_Missense_Mutation_p.Q728R|SBNO2_uc010xgj.1_Intron	1,1	1		benign(0.102)	p.Q745R	NM_014963	NP_055778		deleterious(0)	1,1	SBNO2_HUMAN	SBNO2	HGNC	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	K7ERL2_HUMAN,K7ENA9_HUMAN		19	2472	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	UPI0000140680	745					SNV	SBNO2,missense_variant,p.Gln745Arg,ENST00000361757,NM_014963.2;SBNO2,missense_variant,p.Gln735Arg,ENST00000587024,;SBNO2,missense_variant,p.Gln688Arg,ENST00000438103,NM_001100122.1;SBNO2,downstream_gene_variant,,ENST00000592222,;SBNO2,upstream_gene_variant,,ENST00000587673,;SBNO2,downstream_gene_variant,,ENST00000590446,;SBNO2,upstream_gene_variant,,ENST00000586109,;	uc002lrk.3	c.2234A>G	2472/4922	4	4			c.2234A>G						19	SNP	c.(2233-2235)CAG>CGG	34	34				0	Broad	strawberry notch homolog 2 isoform 1			1113547		0.697	ENSG00000064932	13643	g.chr19:1113547T>C	macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent									32.543416	KEEP	6	12	-1	13	14	6	12	-1	32.941963	13	14	0.37037	1	0	0	0	0	1	0	0	0	--	--		0	C			SBNO2_uc002lrj.3_Missense_Mutation_p.Q688R|SBNO2_uc010dse.2_Missense_Mutation_p.Q728R|SBNO2_uc010xgj.1_Intron	121	GBM-12-0688-TP	p.Q745R	T	CGCCACCCGCTGGGGGCCGCC	NM_014963	NP_055778	1113547	Q9Y2G9	SBNO2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	19	2472	-	C	C		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	Missense_Mutation	745						
SBSN	374897	broad.mit.edu	GRCh37	19	36017633	36017633	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-02-2483-01	TCGA-02-2483-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000452271.2:c.1551C>A	p.His517Gln	p.H517Q	ENST00000452271	NM_001166034.1	517	caC/caA	0			1			T	H/Q	uc002oae.1	protein_coding	YES	CCDS54253.1			1551/1773									ovary(1)	1	c.(520-522)CAC>CAA			Low_complexity_(Seg):seg	suprabasin isoform 2 precursor				ENSP00000430242		4-Jan									COSM3404130,COSM3404129	4-Jan	.		ENST00000452271	Transcript				extracellular region		ENSG00000189001	g.chr19:36017633G>T	24950			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=SBSN_HUMAN&rb=1&re=201&var=H174Q	NA	getma.org/?cm=var&var=hg19,19,36017633,G,T&fts=all	H174Q	--	--	1																																		SBSN_uc002oad.1_Missense_Mutation_p.H517Q	1,1	1		possibly_damaging(0.767)	p.H174Q	NM_198538	NP_940940		deleterious(0.03)	1,1	SBSN_HUMAN	SBSN	HGNC	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)				2	592	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		UPI000059D6E7	174			Ala/Gly/His-rich.		SNV	SBSN,missense_variant,p.His517Gln,ENST00000452271,NM_001166034.1;SBSN,missense_variant,p.His174Gln,ENST00000518157,NM_198538.3;SBSN,intron_variant,,ENST00000588674,NM_001166035.1;	uc002oae.1	c.522C>A	1580/1945	2	2			c.522C>A						19	SNP	c.(520-522)CAC>CAA	28	28			ovary(1)	1	Broad	suprabasin isoform 2 precursor			36017633		0.582	ENSG00000189001	13644	g.chr19:36017633G>T		extracellular region								-13.916677	KEEP	3	6	0.333333333	76	98	3	6	0.333333333	20.810656	76	98	0.054217	1	0	0	0	0	1	0	0	0	--	--		0	T			SBSN_uc002oad.1_Missense_Mutation_p.H517Q	6	GBM-02-2483-TP	p.H174Q	G	CAGCAGCATGGTGGGCACCTT	NM_198538	NP_940940	36017633	Q6UWP8	SBSN_HUMAN	0	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	592	-	T	T	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		Missense_Mutation	174			Ala/Gly/His-rich.			
SBSN	0	broad.mit.edu	GRCh37	19	36019170	36019170	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs138249808		TCGA-12-0688-01	TCGA-12-0688-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000452271.2:c.14G>A	p.Arg5His	p.R5H	ENST00000452271	NM_001166034.1	5	cGt/cAt	0	T:0		1			T	R/H	uc002oae.1	protein_coding	YES	CCDS54253.1			14/1773									ovary(1)	1	c.(13-15)CGT>CAT			Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23243,hmmpanther:PTHR23243:SF3	suprabasin isoform 2 precursor			T:0.0001	ENSP00000430242		4-Jan	8.24E-06					1.55E-05			rs138249808,COSM3404132,COSM3404131	4-Jan	.		ENST00000452271	Transcript				extracellular region		ENSG00000189001	g.chr19:36019170C>T	24950			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=SBSN_HUMAN&rb=1&re=201&var=R5H	NA	getma.org/?cm=var&var=hg19,19,36019170,C,T&fts=all	R5H	--	--	1																																		SBSN_uc002oad.1_Missense_Mutation_p.R5H	0,1,1	1		unknown(0)	p.R5H	NM_198538	NP_940940		tolerated(0.58)	0,1,1	SBSN_HUMAN	SBSN	HGNC	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)				1	84	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		UPI000059D6E7	5					SNV	SBSN,missense_variant,p.Arg5His,ENST00000452271,NM_001166034.1;SBSN,missense_variant,p.Arg5His,ENST00000518157,NM_198538.3;SBSN,upstream_gene_variant,,ENST00000588674,NM_001166035.1;	uc002oae.1	c.14G>A	43/1945	2	2			c.14G>A						19	SNP	c.(13-15)CGT>CAT	47	47			ovary(1)	1	Broad	suprabasin isoform 2 precursor			36019170		0.587	ENSG00000189001	13644	g.chr19:36019170C>T		extracellular region								-3.317788	KEEP	4	3	-1	40	52	4	3	-1	13.385734	40	52	0.068966	1	0	0	0	0	1	0	0	0	--	--		0	T			SBSN_uc002oad.1_Missense_Mutation_p.R5H	121	GBM-12-0688-TP	p.R5H	C	GCCGACCAGACGTGCAAGATG	NM_198538	NP_940940	36019170	Q6UWP8	SBSN_HUMAN	0	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	84	-	T	T	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		Missense_Mutation	5						
SBSPON	0	broad.mit.edu	GRCh37	8	73982070	73982070	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297354.6:c.647G>A	p.Arg216His	p.R216H	ENST00000297354	NM_153225.3	216	cGt/cAt	0			1			T	R/H	uc003xzf.2	protein_coding	YES	CCDS43747.2			647/795										0	c.(646-648)CGT>CAT			hmmpanther:PTHR20920,hmmpanther:PTHR20920:SF2	RPE-spondin precursor				ENSP00000297354		5-Apr	1.65E-05	0.000102						6.06E-05	rs755064564,COSM3413110	5-Apr	.		ENST00000297354	Transcript			immune response	extracellular region	polysaccharide binding|scavenger receptor activity	ENSG00000164764	g.chr8:73982070C>T	30362			MODERATE		1.585	low	getma.org/?cm=msa&ty=f&p=RPESP_HUMAN&rb=201&re=264&var=R216H	NA	getma.org/?cm=var&var=hg19,8,73982070,C,T&fts=all	R216H	--	--	1																																			0,1	1		benign(0.092)	p.R216H	NM_153225	NP_694957		tolerated(0.34)	0,1	SBSPO_HUMAN	SBSPON	HGNC	Q8IVN8	RPESP_HUMAN					4	852	-			UPI0000D47CF3	216					SNV	SBSPON,missense_variant,p.Arg216His,ENST00000297354,NM_153225.3;SBSPON,non_coding_transcript_exon_variant,,ENST00000519697,;	uc003xzf.2	c.647G>A	852/3801	2	2			c.647G>A						8	SNP	c.(646-648)CGT>CAT	21	21				0	Broad	RPE-spondin precursor			73982070		0.478	ENSG00000164764	2392	g.chr8:73982070C>T	immune response	extracellular region	polysaccharide binding|scavenger receptor activity							78.603583	KEEP	13	16	-1	19	34	13	16	-1	79.89803	19	34	0.36	1	0	0	0	0	1	0	0	0	--	--		0	T				159	GBM-19-1390-TP	p.R216H	C	TCCAGAACAACGAAGGCTCAC	NM_153225	NP_694957	73982070	Q8IVN8	RPESP_HUMAN	0			4	852	-	T	T			Missense_Mutation	216						
SBSPON	0	broad.mit.edu	GRCh37	8	73993342	73993342	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-4068-01	TCGA-19-4068-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297354.6:c.321C>T	p.Asn107=	p.N107=	ENST00000297354	NM_153225.3	107	aaC/aaT	0			1			A	N	uc003xzf.2	protein_coding	YES	CCDS43747.2			321/795										0	c.(319-321)AAC>AAT			PROSITE_profiles:PS50092,hmmpanther:PTHR20920,hmmpanther:PTHR20920:SF2,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895	RPE-spondin precursor				ENSP00000297354		5-Feb	4.96E-05	0.000104				6.08E-05		6.19E-05	rs200404302,COSM2156462	5-Feb	.		ENST00000297354	Transcript			immune response	extracellular region	polysaccharide binding|scavenger receptor activity	ENSG00000164764	g.chr8:73993342G>A	30362			LOW								--	--	1																																			0,1	1			p.N107N	NM_153225	NP_694957			0,1	SBSPO_HUMAN	SBSPON	HGNC	Q8IVN8	RPESP_HUMAN					2	526	-			UPI0000D47CF3	107			TSP type-1.		SNV	SBSPON,synonymous_variant,p.=,ENST00000297354,NM_153225.3;RP11-956J14.1,downstream_gene_variant,,ENST00000442274,;SBSPON,non_coding_transcript_exon_variant,,ENST00000519697,;	uc003xzf.2	c.321C>T	526/3801	2	2			c.321C>T						8	SNP	c.(319-321)AAC>AAT	36	36				0	Broad	RPE-spondin precursor			73993342		0.657	ENSG00000164764	2392	g.chr8:73993342G>A	immune response	extracellular region	polysaccharide binding|scavenger receptor activity							177.711829	KEEP	58	62	-1	83	95	58	62	-1	178.346635	83	95	0.42953	1	0	0	0	0	0	0	1	0	--	--		0	A				168	GBM-19-4068-TP	p.N107N	G	GCGCCCCGCCGTTCTGAGGCT	NM_153225	NP_694957	73993342	Q8IVN8	RPESP_HUMAN	0			2	526	-	A	A			Silent	107			TSP type-1.			
SCAF1	58506	broad.mit.edu	GRCh37	19	50157645	50157645	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01	TCGA-06-0174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360565.3:c.3356C>T	p.Ala1119Val	p.A1119V	ENST00000360565	NM_021228.2	1119	gCg/gTg	0			1			T	A/V	uc002poq.2	protein_coding	YES	CCDS33074.1			3356/3939										0	c.(3355-3357)GCG>GTG			hmmpanther:PTHR15242,hmmpanther:PTHR15242:SF2	SR-related CTD-associated factor 1				ENSP00000353769		11-Aug									COSM3404461	11-Aug	.		ENST00000360565	Transcript			mRNA processing|RNA splicing	nucleus	RNA binding	ENSG00000126461	g.chr19:50157645C>T	30403			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=SFR19_HUMAN&rb=1&re=1199&var=A1119V	NA	getma.org/?cm=var&var=hg19,19,50157645,C,T&fts=all	A1119V	--	--	1																																			1	1		possibly_damaging(0.695)	p.A1119V	NM_021228	NP_067051			1	SFR19_HUMAN	SCAF1	HGNC	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	M0R3G4_HUMAN,M0R2L3_HUMAN		8	3480	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	UPI0000071891	1119					SNV	SCAF1,missense_variant,p.Ala1119Val,ENST00000360565,NM_021228.2;SCAF1,downstream_gene_variant,,ENST00000598359,;	uc002poq.2	c.3356C>T	3480/4306	2	2			c.3356C>T						19	SNP	c.(3355-3357)GCG>GTG	48	48				0	Broad	SR-related CTD-associated factor 1			50157645		0.607	ENSG00000126461	13648	g.chr19:50157645C>T	mRNA processing|RNA splicing	nucleus	RNA binding							-11.006869	KEEP	1	2	-1	53	63	1	2	-1	6.349024	53	63	0.039474	1	0	0	0	0	1	0	0	0	--	--		0	T				37	GBM-06-0174-TP	p.A1119V	C	GCCAACCTGGCGAGCCGAGCG	NM_021228	NP_067051	50157645	Q9H7N4	SFR19_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	8	3480	+	T	T		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	Missense_Mutation	1119						
SCAF1	58506	broad.mit.edu	GRCh37	19	50155916	50155918	+	inframe_deletion	In_Frame_Del	DEL	CCT	CCT	-			TCGA-06-5856-01	TCGA-06-5856-01	CCT	CCT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360565.3:c.2283_2285del	p.Ser763del	p.S763del	ENST00000360565	NM_021228.2	757	gCCTcc/gcc	0	-:0.02		1			-	AS/A	uc002poq.2	protein_coding	YES	CCDS33074.1			2270-2272/3939										0	c.(2269-2274)GCCTCC>GCC			hmmpanther:PTHR15242,hmmpanther:PTHR15242:SF2,Low_complexity_(Seg):seg	SR-related CTD-associated factor 1			-:0.0304	ENSP00000353769		11-Jul									rs772638086,COSM1287767	11-Jul	.		ENST00000360565	Transcript			mRNA processing|RNA splicing	nucleus	RNA binding	ENSG00000126461	g.chr19:50155916_50155918delCCT	30403	13		MODERATE								--	--	1																																			0,1	1			p.S763del	NM_021228	NP_067051			0,1	SFR19_HUMAN	SCAF1	HGNC	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	M0R3G4_HUMAN,M0R2L3_HUMAN		7	2394_2396	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	UPI0000071891	763			Ser-rich.		deletion	SCAF1,inframe_deletion,p.Ser763del,ENST00000360565,NM_021228.2;SCAF1,downstream_gene_variant,,ENST00000598359,;	uc002poq.2	c.2270_2272delCCT	2394-2396/4306	5	5			c.2270_2272delCCT						19	DEL	c.(2269-2274)GCCTCC>GCC	54	54				0	Broad	SR-related CTD-associated factor 1			50155918		0.562	ENSG00000126461	13648	g.chr19:50155916_50155918delCCT	mRNA processing|RNA splicing	nucleus	RNA binding																				0.33	1	1	0	1	0	0	0	0	0	--	--		0	-				101	GBM-06-5856-TP	p.S763del	CCT	TCGGGGGCCGCCTCCTCCTCCTC	NM_021228	NP_067051	50155916	Q9H7N4	SFR19_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	7	2394_2396	+	-	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	In_Frame_Del	763			Ser-rich.			
SCAF11	0	broad.mit.edu	GRCh37	12	46320707	46320708	+	frameshift_variant	Frame_Shift_Del	DEL	TC	TC	-			TCGA-14-0786-01	TCGA-14-0786-01	TC	TC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369367.3:c.2776_2777delGA	p.Glu926LysfsTer8	p.E926Kfs*8	ENST00000369367	NM_004719.2	926	GAa/a	0			1			-	E/X	uc001rox.2	protein_coding	YES	CCDS8748.2			2776-2777/4392										0	c.(2776-2778)GAAfs			hmmpanther:PTHR15242,hmmpanther:PTHR15242:SF3,Low_complexity_(Seg):seg	splicing factor, arginine/serine-rich 2,				ENSP00000358374		15-Nov	8.24E-05	9.66E-05	8.65E-05			7.51E-05			rs749292193,COSM392821	15-Nov	.		ENST00000369367	Transcript			spliceosome assembly	nucleus	protein binding|zinc ion binding	ENSG00000139218	g.chr12:46320707_46320708delTC	10784			HIGH								--	--	1																																		SFRS2IP_uc001row.2_Frame_Shift_Del_p.E611fs|SFRS2IP_uc001roy.1_Frame_Shift_Del_p.E1000fs	0,1	1			p.E926fs	NM_004719	NP_004710			0,1	SCAFB_HUMAN	SCAF11	HGNC	Q99590	SCAFB_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)	F8VXG7_HUMAN		11	3063_3064	-	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	UPI0000D481F2	926			Arg-rich.		deletion	SCAF11,frameshift_variant,p.Glu611LysfsTer8,ENST00000465950,;SCAF11,frameshift_variant,p.Glu926LysfsTer8,ENST00000369367,NM_004719.2;SCAF11,frameshift_variant,p.Glu926LysfsTer8,ENST00000419565,;SCAF11,frameshift_variant,p.Glu734LysfsTer8,ENST00000549162,;SCAF11,upstream_gene_variant,,ENST00000550629,;SCAF11,downstream_gene_variant,,ENST00000484275,;SCAF11,upstream_gene_variant,,ENST00000547654,;SCAF11,frameshift_variant,p.Glu866LysfsTer8,ENST00000547018,;SCAF11,downstream_gene_variant,,ENST00000546534,;SCAF11,upstream_gene_variant,,ENST00000547950,;SCAF11,upstream_gene_variant,,ENST00000550893,;	uc001rox.2	c.2776_2777delGA	3010-3011/5265	5	5			c.2776_2777delGA						12	DEL	c.(2776-2778)GAAfs	57	57				0	Broad	splicing factor, arginine/serine-rich 2,			46320708		0.446	ENSG00000139218	13956	g.chr12:46320707_46320708delTC	spliceosome assembly	nucleus	protein binding|zinc ion binding																				0.02	1	1	0	1	0	0	0	0	0	--	--		0	-			SFRS2IP_uc001row.2_Frame_Shift_Del_p.E611fs|SFRS2IP_uc001roy.1_Frame_Shift_Del_p.E1000fs	134	GBM-14-0786-TP	p.E926fs	TC	GGTTCTCCTTTCTCTCTCTCTC	NM_004719	NP_004710	46320707	Q99590	SCAFB_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)	11	3063_3064	-	-	-	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	Frame_Shift_Del	926			Arg-rich.			
SCAF11	9169		GRCh37	12	46320707	46320708	+	frameshift_variant	Frame_Shift_Del	DEL	TC	TC	-			TCGA-06-0151-01	TCGA-06-0151-01																				ENST00000369367.3:c.2776_2777del	p.Glu926LysfsTer8	p.E926Kfs*8	ENST00000369367	NM_004719.2	926	GAa/a	0																																																																																																																																																																																																																																												
SCAF4	57466	broad.mit.edu	GRCh37	21	33074598	33074598	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5412-01	TCGA-06-5412-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286835.7:c.416G>A	p.Ser139Asn	p.S139N	ENST00000286835	NM_020706.2	139	aGt/aAt	0			1			T	S/N	uc002ypd.2	protein_coding	YES	CCDS33537.1			416/3444										0	c.(415-417)AGT>AAT			hmmpanther:PTHR14124,hmmpanther:PTHR14124:SF2,PROSITE_profiles:PS51391	splicing factor, arginine/serine-rich 15 isoform				ENSP00000286835		20-May	8.24E-06					1.50E-05			rs779499627,COSM3405355	20-May	.		ENST00000286835	Transcript				nucleus	nucleotide binding|RNA binding	ENSG00000156304	g.chr21:33074598C>T	19304			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=SFR15_HUMAN&rb=1&re=139&var=S139N	getma.org/pdb.php?prot=SFR15_HUMAN&from=1&to=139&var=S139N	getma.org/?cm=var&var=hg19,21,33074598,C,T&fts=all	S139N	--	--	1																																		SFRS15_uc002ype.2_Missense_Mutation_p.S139N|SFRS15_uc010glu.2_Missense_Mutation_p.S124N|SFRS15_uc002ypf.1_5'Flank|SFRS15_uc002ypg.2_Missense_Mutation_p.S139N	0,1	1		benign(0.303)	p.S139N	NM_020706	NP_065757			0,1	SFR15_HUMAN	SCAF4	HGNC	O95104	SFR15_HUMAN			Q0P607_HUMAN		5	842	-			UPI0000206D66	139			CID.		SNV	SCAF4,missense_variant,p.Ser139Asn,ENST00000286835,NM_020706.2;SCAF4,missense_variant,p.Ser139Asn,ENST00000399804,NM_001145445.1;SCAF4,missense_variant,p.Ser124Asn,ENST00000434667,NM_001145444.1;SCAF4,non_coding_transcript_exon_variant,,ENST00000485790,;SCAF4,upstream_gene_variant,,ENST00000467731,;HMGN1P2,upstream_gene_variant,,ENST00000445197,;	uc002ypd.2	c.416G>A	799/4193	1	1			c.416G>A						21	SNP	c.(415-417)AGT>AAT	1	1				0	Broad	splicing factor, arginine/serine-rich 15 isoform			33074598		0.388	ENSG00000156304	13951	g.chr21:33074598C>T		nucleus	nucleotide binding|RNA binding							4.061616	KEEP	4	7	-1	55	65	4	7	-1	24.965702	55	65	0.084034	1	0	0	0	0	1	0	0	0	--	--		0	T			SFRS15_uc002ype.2_Missense_Mutation_p.S139N|SFRS15_uc010glu.2_Missense_Mutation_p.S124N|SFRS15_uc002ypf.1_5'Flank|SFRS15_uc002ypg.2_Missense_Mutation_p.S139N	95	GBM-06-5412-TP	p.S139N	C	GGCTGCATTACTGGTTCCCGC	NM_020706	NP_065757	33074598	O95104	SFR15_HUMAN	0			5	842	-	T	T			Missense_Mutation	139			CID.			
SCAF4	0	broad.mit.edu	GRCh37	21	33044257	33044259	+	inframe_deletion	In_Frame_Del	DEL	GCT	GCT	-			TCGA-28-1747-01	TCGA-28-1747-01	GCT	GCT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286835.7:c.2897_2899delAGC	p.Gln966del	p.Q966del	ENST00000286835	NM_020706.2	966	cAGCca/cca	0			1			-	QP/P	uc002ypd.2	protein_coding	YES	CCDS33537.1			2897-2899/3444										0	c.(2896-2901)CAGCCA>CCA			hmmpanther:PTHR14124,hmmpanther:PTHR14124:SF2,Low_complexity_(Seg):seg	splicing factor, arginine/serine-rich 15 isoform				ENSP00000286835		20/20									rs752510963,COSM392051	20/20	.		ENST00000286835	Transcript				nucleus	nucleotide binding|RNA binding	ENSG00000156304	g.chr21:33044257_33044259delGCT	19304			MODERATE								--	--	1																																		SFRS15_uc002ype.2_In_Frame_Del_p.Q944del|SFRS15_uc010glu.2_In_Frame_Del_p.Q951del	0,1	1			p.Q966del	NM_020706	NP_065757			0,1	SFR15_HUMAN	SCAF4	HGNC	O95104	SFR15_HUMAN			Q0P607_HUMAN		20	3323_3325	-			UPI0000206D66	966			Poly-Gln.		deletion	SCAF4,inframe_deletion,p.Gln966del,ENST00000286835,NM_020706.2;SCAF4,inframe_deletion,p.Gln944del,ENST00000399804,NM_001145445.1;SCAF4,inframe_deletion,p.Gln951del,ENST00000434667,NM_001145444.1;SOD1,downstream_gene_variant,,ENST00000270142,NM_000454.4;SOD1,downstream_gene_variant,,ENST00000389995,;AP000254.8,upstream_gene_variant,,ENST00000609934,;SOD1,downstream_gene_variant,,ENST00000470944,;SOD1,downstream_gene_variant,,ENST00000476106,;	uc002ypd.2	c.2897_2899delAGC	3280-3282/4193	5	5			c.2897_2899delAGC						21	DEL	c.(2896-2901)CAGCCA>CCA	28	28				0	Broad	splicing factor, arginine/serine-rich 15 isoform			33044259		0.291	ENSG00000156304	13951	g.chr21:33044257_33044259delGCT		nucleus	nucleotide binding|RNA binding																				0.05	1	1	0	1	0	0	0	0	0	--	--		0	-			SFRS15_uc002ype.2_In_Frame_Del_p.Q944del|SFRS15_uc010glu.2_In_Frame_Del_p.Q951del	206	GBM-28-1747-TP	p.Q966del	GCT	GATGGTGgtggctgctgctgctg	NM_020706	NP_065757	33044257	O95104	SFR15_HUMAN	0			20	3323_3325	-	-	-			In_Frame_Del	966			Poly-Gln.			
SCAI	286205	broad.mit.edu	GRCh37	9	127781214	127781214	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-5418-01	TCGA-06-5418-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373549.4:c.794T>C	p.Val265Ala	p.V265A	ENST00000373549	NM_173690.4	265	gTa/gCa	0			1			G	V/A	uc004bpe.2	protein_coding		CCDS48017.1			725/1821									ovary(2)|breast(2)|central_nervous_system(1)	5	c.(724-726)GTA>GCA			Pfam_domain:PF12070,PIRSF_domain:PIRSF013022,hmmpanther:PTHR21243	suppressor of cancer cell invasion isoform 2				ENSP00000336756		18-Sep									COSM3413331	18-Sep	.		ENST00000336505	Transcript			negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	ENSG00000173611	g.chr9:127781214A>G	26709			MODERATE		1.65	low	getma.org/?cm=msa&ty=f&p=SCAI_HUMAN&rb=63&re=558&var=V242A	NA	getma.org/?cm=var&var=hg19,9,127781214,A,G&fts=all	V242A	--	--	1																																		SCAI_uc004bpd.2_Missense_Mutation_p.V265A|SCAI_uc010mwu.2_RNA	1			benign(0.138)	p.V242A	NM_001144877	NP_001138349		deleterious(0.05)	1	SCAI_HUMAN	SCAI	HGNC	Q8N9R8	SCAI_HUMAN					9	806	-			UPI00002117CF	242					SNV	SCAI,missense_variant,p.Val242Ala,ENST00000336505,NM_001144877.2;SCAI,missense_variant,p.Val265Ala,ENST00000373549,NM_173690.4;SCAI,missense_variant,p.Val242Ala,ENST00000477186,;	uc004bpe.2	c.725T>C	784/12079	3	3			c.725T>C						9	SNP	c.(724-726)GTA>GCA	13	13			ovary(2)|breast(2)|central_nervous_system(1)	5	Broad	suppressor of cancer cell invasion isoform 2			127781214		0.393	ENSG00000173611	13649	g.chr9:127781214A>G	negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity							-15.442995	KEEP	2	1	-1	53	40	2	1	-1	7.064135	53	40	0.031915	1	0	0	0	0	1	0	0	0	--	--		0	G			SCAI_uc004bpd.2_Missense_Mutation_p.V265A|SCAI_uc010mwu.2_RNA	100	GBM-06-5418-TP	p.V242A	A	ATCATTTAATACCATTACAGG	NM_001144877	NP_001138349	127781214	Q8N9R8	SCAI_HUMAN	0			9	806	-	G	G			Missense_Mutation	242						
SCAMP2	0	broad.mit.edu	GRCh37	15	75137888	75137888	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-32-2494-01	TCGA-32-2494-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268099.9:c.781A>C	p.Ile261Leu	p.I261L	ENST00000268099	NM_005697.3	261	Ata/Cta	0			1			G	I/L	uc002azb.1	protein_coding	YES	CCDS10271.1			781/990									ovary(1)	1	c.(781-783)ATA>CTA			Pfam_domain:PF04144,hmmpanther:PTHR10687,hmmpanther:PTHR10687:SF7,Transmembrane_helices:TMhelix	secretory carrier membrane protein 2				ENSP00000268099		9-Aug									COSM3747979	9-Aug	.		ENST00000268099	Transcript			post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding	ENSG00000140497	g.chr15:75137888T>G	10564			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=SCAM2_HUMAN&rb=116&re=294&var=I261L	NA	getma.org/?cm=var&var=hg19,15,75137888,T,G&fts=all	I261L	--	--	1																																		ULK3_uc010ulp.1_5'Flank|ULK3_uc010ulq.1_5'Flank|ULK3_uc010ulr.1_5'Flank|ULK3_uc010bkf.1_5'Flank|ULK3_uc002ayv.2_5'Flank|ULK3_uc010uls.1_5'Flank|ULK3_uc010ult.1_5'Flank|ULK3_uc010ulu.1_5'Flank|SCAMP2_uc002aza.1_Missense_Mutation_p.I111L|SCAMP2_uc010bkg.1_RNA	1	1		benign(0.002)	p.I261L	NM_005697	NP_005688		deleterious(0.05)	1	SCAM2_HUMAN	SCAMP2	HGNC	O15127	SCAM2_HUMAN			H3BMN2_HUMAN		8	855	-			UPI00001355FD	261			Lumenal (Potential).		SNV	SCAMP2,missense_variant,p.Ile221Leu,ENST00000566480,;SCAMP2,missense_variant,p.Ile261Leu,ENST00000268099,NM_005697.3;ULK3,upstream_gene_variant,,ENST00000440863,NM_001099436.1;ULK3,upstream_gene_variant,,ENST00000569437,NM_001284364.1;ULK3,upstream_gene_variant,,ENST00000568667,;SCAMP2,downstream_gene_variant,,ENST00000564529,;SCAMP2,downstream_gene_variant,,ENST00000565345,;SCAMP2,downstream_gene_variant,,ENST00000562363,;SCAMP2,synonymous_variant,p.=,ENST00000563663,;SCAMP2,3_prime_UTR_variant,,ENST00000569904,;SCAMP2,non_coding_transcript_exon_variant,,ENST00000563829,;SCAMP2,non_coding_transcript_exon_variant,,ENST00000569251,;ULK3,upstream_gene_variant,,ENST00000570276,;ULK3,upstream_gene_variant,,ENST00000561725,;ULK3,upstream_gene_variant,,ENST00000566479,;ULK3,upstream_gene_variant,,ENST00000568210,;ULK3,upstream_gene_variant,,ENST00000568273,;ULK3,upstream_gene_variant,,ENST00000566631,;ULK3,upstream_gene_variant,,ENST00000565881,;ULK3,upstream_gene_variant,,ENST00000562395,;ULK3,upstream_gene_variant,,ENST00000564029,;ULK3,upstream_gene_variant,,ENST00000564767,;ULK3,upstream_gene_variant,,ENST00000565011,;ULK3,upstream_gene_variant,,ENST00000563301,;SCAMP2,downstream_gene_variant,,ENST00000567638,;ULK3,upstream_gene_variant,,ENST00000569813,;ULK3,upstream_gene_variant,,ENST00000565790,;ULK3,upstream_gene_variant,,ENST00000565373,;ULK3,upstream_gene_variant,,ENST00000562161,;ULK3,upstream_gene_variant,,ENST00000568679,;	uc002azb.1	c.781A>C	891/2453	3	3			c.781A>C						15	SNP	c.(781-783)ATA>CTA	8	8			ovary(1)	1	Broad	secretory carrier membrane protein 2			75137888		0.557	ENSG00000140497	13651	g.chr15:75137888T>G	post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding							253.905788	KEEP	41	57	-1	102	105	41	57	-1	259.105521	102	105	0.336364	1	0	0	0	0	1	0	0	0	--	--		0	G			ULK3_uc010ulp.1_5'Flank|ULK3_uc010ulq.1_5'Flank|ULK3_uc010ulr.1_5'Flank|ULK3_uc010bkf.1_5'Flank|ULK3_uc002ayv.2_5'Flank|ULK3_uc010uls.1_5'Flank|ULK3_uc010ult.1_5'Flank|ULK3_uc010ulu.1_5'Flank|SCAMP2_uc002aza.1_Missense_Mutation_p.I111L|SCAMP2_uc010bkg.1_RNA	236	GBM-32-2494-TP	p.I261L	T	ATGACTGATATGGCCAGGGAA	NM_005697	NP_005688	75137888	O15127	SCAM2_HUMAN	0			8	855	-	G	G			Missense_Mutation	261			Lumenal (Potential).			
SCAMP5	0	broad.mit.edu	GRCh37	15	75305137	75305137	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361900.6:c.127C>T	p.Leu43Phe	p.L43F	ENST00000361900	NM_001178111.1	43	Ctc/Ttc	0			1			T	L/F	uc002azk.1	protein_coding	YES	CCDS45306.1			127/708									ovary(1)	1	c.(127-129)CTC>TTC			Transmembrane_helices:TMhelix,Pfam_domain:PF04144,hmmpanther:PTHR10687,hmmpanther:PTHR10687:SF5	secretory carrier membrane protein 5				ENSP00000355387		8-Apr									COSM3401922,COSM3401921	8-Apr	.		ENST00000361900	Transcript			exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding	ENSG00000198794	g.chr15:75305137C>T	30386			MODERATE		2.72	medium	getma.org/?cm=msa&ty=f&p=SCAM5_HUMAN&rb=4&re=180&var=L43F	NA	getma.org/?cm=var&var=hg19,15,75305137,C,T&fts=all	L43F	--	--	1																																		SCAMP5_uc002azl.1_Missense_Mutation_p.L43F|SCAMP5_uc002azm.1_Missense_Mutation_p.L43F|SCAMP5_uc002azn.1_Missense_Mutation_p.L43F|SCAMP5_uc010uly.1_Missense_Mutation_p.P24L	1,1	1		probably_damaging(0.993)	p.L43F	NM_138967	NP_620417		deleterious(0.04)	1,1	SCAM5_HUMAN	SCAMP5	HGNC	Q8TAC9	SCAM5_HUMAN			H3BTD1_HUMAN,H3BT30_HUMAN,H3BS22_HUMAN,H3BP89_HUMAN,H3BNW6_HUMAN,H3BNH7_HUMAN,H3BNB3_HUMAN		3	289	+			UPI00000700E5	43			Helical; (Potential).		SNV	SCAMP5,missense_variant,p.Leu43Phe,ENST00000361900,NM_001178111.1;SCAMP5,missense_variant,p.Leu43Phe,ENST00000425597,NM_001178112.1,NM_138967.3;SCAMP5,missense_variant,p.Leu43Phe,ENST00000562212,;SCAMP5,missense_variant,p.Pro24Leu,ENST00000545456,;SCAMP5,missense_variant,p.Leu43Phe,ENST00000568018,;SCAMP5,missense_variant,p.Leu43Phe,ENST00000567920,;SCAMP5,missense_variant,p.Leu43Phe,ENST00000562327,;SCAMP5,missense_variant,p.Leu43Phe,ENST00000566872,;SCAMP5,missense_variant,p.Leu43Phe,ENST00000568119,;SCAMP5,missense_variant,p.Leu43Phe,ENST00000565989,;SCAMP5,missense_variant,p.Leu43Phe,ENST00000564779,;SCAMP5,upstream_gene_variant,,ENST00000568081,;SCAMP5,non_coding_transcript_exon_variant,,ENST00000565923,;SCAMP5,non_coding_transcript_exon_variant,,ENST00000564141,;SCAMP5,missense_variant,p.Leu43Phe,ENST00000562765,;SCAMP5,missense_variant,p.Leu43Phe,ENST00000568423,;SCAMP5,missense_variant,p.Leu43Phe,ENST00000567529,;SCAMP5,missense_variant,p.Leu43Phe,ENST00000564491,;SCAMP5,non_coding_transcript_exon_variant,,ENST00000567535,;	uc002azk.1	c.127C>T	334/3427	2	2			c.127C>T						15	SNP	c.(127-129)CTC>TTC	36	36			ovary(1)	1	Broad	secretory carrier membrane protein 5			75305137		0.607	ENSG00000198794	13654	g.chr15:75305137C>T	exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding							71.941076	KEEP	14	11	-1	16	16	14	11	-1	72.150802	16	16	0.431373	1	0	0	0	0	1	0	0	0	--	--		0	T			SCAMP5_uc002azl.1_Missense_Mutation_p.L43F|SCAMP5_uc002azm.1_Missense_Mutation_p.L43F|SCAMP5_uc002azn.1_Missense_Mutation_p.L43F|SCAMP5_uc010uly.1_Missense_Mutation_p.P24L	159	GBM-19-1390-TP	p.L43F	C	CCTCTACTACCTCTGGATGTG	NM_138967	NP_620417	75305137	Q8TAC9	SCAM5_HUMAN	0			3	289	+	T	T			Missense_Mutation	43			Helical; (Potential).			
SCAND3	0	broad.mit.edu	GRCh37	6	28554340	28554340	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000452236.2:c.155G>A	p.Arg52His	p.R52H	ENST00000452236	NM_052923.1	52	cGt/cAt	0			1			T	R/H	uc003nlo.2	protein_coding	YES	CCDS34355.1			155/3978									ovary(1)	1	c.(154-156)CGT>CAT			PROSITE_profiles:PS50804,hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF90,Pfam_domain:PF02023,SMART_domains:SM00431,Superfamily_domains:SSF47353	SCAN domain containing 3				ENSP00000395259		4-Jan									rs200336287,COSM3410874	4-Jan	.		ENST00000452236	Transcript			DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	ENSG00000232040	g.chr6:28554340C>T	13851			MODERATE		2.14	medium	getma.org/?cm=msa&ty=f&p=SCND3_HUMAN&rb=46&re=141&var=R52H	getma.org/pdb.php?prot=SCND3_HUMAN&from=46&to=141&var=R52H	getma.org/?cm=var&var=hg19,6,28554340,C,T&fts=all	R52H	--	--	1																																		uc003nlp.1_5'Flank	0,1	1		possibly_damaging(0.846)	p.R52H	NM_052923	NP_443155		tolerated_low_confidence(0.08)	0,1	SCND3_HUMAN	SCAND3	HGNC	Q6R2W3	SCND3_HUMAN					1	773	-			UPI00001618B7	52			SCAN box.		SNV	SCAND3,missense_variant,p.Arg52His,ENST00000452236,NM_052923.1;SCAND3,intron_variant,,ENST00000530247,;RP5-1186N24.3,upstream_gene_variant,,ENST00000499525,;SCAND3,downstream_gene_variant,,ENST00000524745,;SCAND3,upstream_gene_variant,,ENST00000526291,;	uc003nlo.2	c.155G>A	773/4877	1	1			c.155G>A						6	SNP	c.(154-156)CGT>CAT	5	5			ovary(1)	1	Broad	SCAN domain containing 3			28554340		0.507	ENSG00000232040	13656	g.chr6:28554340C>T	DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity							184.930408	KEEP	27	34	-1	9	12	27	34	-1	188.786041	9	12	0.736842	1	0	0	0	0	1	0	0	0	--	--		0	T			uc003nlp.1_5'Flank	102	GBM-06-5858-TP	p.R52H	C	GAAGCGCTGACGAGAGAGTTC	NM_052923	NP_443155	28554340	Q6R2W3	SCND3_HUMAN	0			1	773	-	T	T			Missense_Mutation	52			SCAN box.			
SCAND3	0	broad.mit.edu	GRCh37	6	28539828	28539828	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140560647		TCGA-14-1034-01	TCGA-14-1034-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000452236.2:c.3838G>A	p.Gly1280Arg	p.G1280R	ENST00000452236	NM_052923.1	1280	Gga/Aga	0	T:0.0002		1			T	G/R	uc003nlo.2	protein_coding	YES	CCDS34355.1			3838/3978									ovary(1)	1	c.(3838-3840)GGA>AGA			hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF90,Pfam_domain:PF05699,Superfamily_domains:SSF53098	SCAN domain containing 3			T:0	ENSP00000395259		4-Apr	3.29E-05	0.000193				1.50E-05		6.06E-05	rs140560647,COSM2155203	4-Apr	.		ENST00000452236	Transcript			DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	ENSG00000232040	g.chr6:28539828C>T	13851			MODERATE		3.015	medium	getma.org/?cm=msa&ty=f&p=SCND3_HUMAN&rb=1227&re=1299&var=G1280R	NA	getma.org/?cm=var&var=hg19,6,28539828,C,T&fts=all	G1280R	--	--	1																																			0,1	1		probably_damaging(1)	p.G1280R	NM_052923	NP_443155		deleterious_low_confidence(0.02)	0,1	SCND3_HUMAN	SCAND3	HGNC	Q6R2W3	SCND3_HUMAN					4	4456	-			UPI00001618B7	1280					SNV	SCAND3,missense_variant,p.Gly1280Arg,ENST00000452236,NM_052923.1;SCAND3,downstream_gene_variant,,ENST00000530247,;	uc003nlo.2	c.3838G>A	4456/4877	2	2			c.3838G>A						6	SNP	c.(3838-3840)GGA>AGA	45	45			ovary(1)	1	Broad	SCAN domain containing 3			28539828		0	ENSG00000232040	13656	g.chr6:28539828C>T	DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity							181.55504	KEEP	27	32	-1	43	45	27	32	-1	182.396817	43	45	0.416058	1	0	0	0	0	1	0	0	0	--	--		0	T				142	GBM-14-1034-TP	p.G1280R	C	gtagagaatccggtctcacag	NM_052923	NP_443155	28539828	Q6R2W3	SCND3_HUMAN	0			4	4456	-	T	T			Missense_Mutation	1280						
SCAPER	0	broad.mit.edu	GRCh37	15	77059334	77059336	+	inframe_deletion	In_Frame_Del	DEL	TTC	TTC	-			TCGA-19-2629-01	TCGA-19-2629-01	TTC	TTC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324767.7:c.1342_1344delGAA	p.Glu448del	p.E448del	ENST00000324767	NM_020843.2	448	GAA/-	0			1			-	E/-	uc002bby.2	protein_coding		CCDS53962.1			1342-1344/4203									large_intestine(1)|lung(1)|ovary(1)	3	c.(1342-1344)GAAdel			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31434,hmmpanther:PTHR31434:SF2,Low_complexity_(Seg):seg	S-phase cyclin A-associated protein in the ER				ENSP00000326924		31-Oct										31-Oct	.		ENST00000324767	Transcript				endoplasmic reticulum|nucleus	zinc ion binding	ENSG00000140386	g.chr15:77059334_77059336delTTC	13081			MODERATE								--	--	1																																		SCAPER_uc002bbx.2_In_Frame_Del_p.E202del|SCAPER_uc002bbz.1_In_Frame_Del_p.E319del|SCAPER_uc002bca.1_In_Frame_Del_p.E313del|SCAPER_uc002bcb.1_In_Frame_Del_p.E454del|SCAPER_uc002bcc.1_In_Frame_Del_p.E448del					p.E448del	NM_020843	NP_065894				SCAPE_HUMAN	SCAPER	HGNC	Q9BY12	SCAPE_HUMAN			H3BTY2_HUMAN,H3BR40_HUMAN,H3BPB0_HUMAN		10	1401_1403	-			UPI0000E59CC3	447			Glu-rich.		deletion	SCAPER,inframe_deletion,p.Glu202del,ENST00000538941,NM_001145923.1;SCAPER,inframe_deletion,p.Glu448del,ENST00000563290,;SCAPER,inframe_deletion,p.Glu448del,ENST00000324767,NM_020843.2;SCAPER,inframe_deletion,p.Glu454del,ENST00000564590,;SCAPER,inframe_deletion,p.Glu454del,ENST00000565970,;SCAPER,inframe_deletion,p.Glu187del,ENST00000564022,;SCAPER,downstream_gene_variant,,ENST00000567618,;SCAPER,3_prime_UTR_variant,,ENST00000565507,;SCAPER,non_coding_transcript_exon_variant,,ENST00000303521,;SCAPER,downstream_gene_variant,,ENST00000568549,;	uc002bby.2	c.1342_1344delGAA	1401-1403/4707	5	5			c.1342_1344delGAA						15	DEL	c.(1342-1344)GAAdel	31	31			large_intestine(1)|lung(1)|ovary(1)	3	Broad	S-phase cyclin A-associated protein in the ER			77059336		0.355	ENSG00000140386	13658	g.chr15:77059334_77059336delTTC		endoplasmic reticulum|nucleus	zinc ion binding																				0.32	1	1	0	1	0	0	0	0	0	--	--		0	-			SCAPER_uc002bbx.2_In_Frame_Del_p.E202del|SCAPER_uc002bbz.1_In_Frame_Del_p.E319del|SCAPER_uc002bca.1_In_Frame_Del_p.E313del|SCAPER_uc002bcb.1_In_Frame_Del_p.E454del|SCAPER_uc002bcc.1_In_Frame_Del_p.E448del	166	GBM-19-2629-TP	p.E448del	TTC	TAGTTAACTGTTCTTCTTCAGCA	NM_020843	NP_065894	77059334	Q9BY12	SCAPE_HUMAN	0			10	1401_1403	-	-	-			In_Frame_Del	447			Glu-rich.			
SCARA5	286133	broad.mit.edu	GRCh37	8	27737142	27737142	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01	TCGA-06-0173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354914.3:c.1295G>A	p.Arg432His	p.R432H	ENST00000354914	NM_173833.5	432	cGc/cAc	0			1			T	R/H	uc003xgj.2	protein_coding	YES	CCDS6064.1			1295/1488									central_nervous_system(1)|skin(1)	2	c.(1294-1296)CGC>CAC			PROSITE_profiles:PS50287,hmmpanther:PTHR24021:SF17,hmmpanther:PTHR24021,PROSITE_patterns:PS00420,Gene3D:3.10.250.10,Pfam_domain:PF00530,SMART_domains:SM00202,Superfamily_domains:SSF56487,Prints_domain:PR00258	scavenger receptor class A, member 5				ENSP00000346990		9-Aug									COSM3412964	9-Aug	.		ENST00000354914	Transcript			cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity	ENSG00000168079	g.chr8:27737142C>T	28701			MODERATE		2.94	medium	getma.org/?cm=msa&ty=f&p=SCAR5_HUMAN&rb=396&re=493&var=R432H	getma.org/pdb.php?prot=SCAR5_HUMAN&from=396&to=493&var=R432H	getma.org/?cm=var&var=hg19,8,27737142,C,T&fts=all	R432H	--	--	1																																		SCARA5_uc010luz.2_Missense_Mutation_p.R207H	1	1		benign(0.178)	p.R432H	NM_173833	NP_776194		deleterious(0.02)	1	SCAR5_HUMAN	SCARA5	HGNC	Q6ZMJ2	SCAR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)			8	1735	-		Ovarian(32;0.0218)	UPI000015FA6D	432			SRCR.|Extracellular (Potential).		SNV	SCARA5,missense_variant,p.Arg432His,ENST00000354914,NM_173833.5;SCARA5,missense_variant,p.Arg207His,ENST00000380385,;	uc003xgj.2	c.1295G>A	1781/4026	2	2			c.1295G>A						8	SNP	c.(1294-1296)CGC>CAC	21	21			central_nervous_system(1)|skin(1)	2	Broad	scavenger receptor class A, member 5			27737142		0.642	ENSG00000168079	13660	g.chr8:27737142C>T	cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			203			203	-35.93338	KEEP	3	1	-1	106	92	3	1	-1	6.416092	106	92	0.02381	1	0	0	0	0	1	0	0	0	--	--		0	T			SCARA5_uc010luz.2_Missense_Mutation_p.R207H	36	GBM-06-0173-TP	p.R432H	C	GCCGAGCATGCGGCACACCAC	NM_173833	NP_776194	27737142	Q6ZMJ2	SCAR5_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)	8	1735	-	T	T		Ovarian(32;0.0218)	Missense_Mutation	432			SRCR.|Extracellular (Potential).			
SCARB1	949	broad.mit.edu	GRCh37	12	125292425	125292425	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0195-01	TCGA-06-0195-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261693.6:c.891C>T	p.Pro297=	p.P297=	ENST00000261693	NM_005505.4	297	ccC/ccT	0			1			A	P	uc001ugo.3	protein_coding					891/1659									kidney(1)	1	c.(889-891)CCC>CCT			hmmpanther:PTHR11923,hmmpanther:PTHR11923:SF49,Pfam_domain:PF01130	scavenger receptor class B, member 1 isoform 1	Phosphatidylserine(DB00144)			ENSP00000414979		12-Jul									COSM3398500,COSM3398501	12-Jul	.		ENST00000415380	Transcript	1		adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	ENSG00000073060	g.chr12:125292425G>A	1664			LOW								--	--	1																																		SCARB1_uc001ugn.3_Silent_p.P297P|SCARB1_uc001ugm.3_Silent_p.P297P|SCARB1_uc010tbd.1_Silent_p.P297P|SCARB1_uc010tbe.1_Silent_p.P256P|SCARB1_uc001ugp.3_Silent_p.P297P	1,1				p.P297P	NM_005505	NP_005496			1,1	SCRB1_HUMAN	SCARB1	HGNC	Q8WTV0	SCRB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)			7	1144	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		UPI000006E977	297		P -> S (mutation carriers have increased HDL cholesterol levels and a reduction in cholesterol efflux from macrophages).	Extracellular (Potential).		SNV	SCARB1,synonymous_variant,p.=,ENST00000339570,NM_001082959.1;SCARB1,synonymous_variant,p.=,ENST00000415380,;SCARB1,synonymous_variant,p.=,ENST00000261693,NM_005505.4;SCARB1,synonymous_variant,p.=,ENST00000541205,;SCARB1,synonymous_variant,p.=,ENST00000376788,;SCARB1,synonymous_variant,p.=,ENST00000540495,;SCARB1,synonymous_variant,p.=,ENST00000544327,;SCARB1,synonymous_variant,p.=,ENST00000546215,;SCARB1,non_coding_transcript_exon_variant,,ENST00000535005,;SCARB1,non_coding_transcript_exon_variant,,ENST00000538291,;	uc001ugo.3	c.891C>T	1017/2731	1	1			c.891C>T						12	SNP	c.(889-891)CCC>CCT	57	57			kidney(1)	1	Broad	scavenger receptor class B, member 1 isoform 1		Phosphatidylserine(DB00144)	125292425		0.582	ENSG00000073060	13661	g.chr12:125292425G>A	adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity							104.653308	KEEP	23	18	-1	51	44	23	18	-1	108.941689	51	44	0.3	1	0	0	0	0	0	0	1	0	--	--		0	A			SCARB1_uc001ugn.3_Silent_p.P297P|SCARB1_uc001ugm.3_Silent_p.P297P|SCARB1_uc010tbd.1_Silent_p.P297P|SCARB1_uc010tbe.1_Silent_p.P256P|SCARB1_uc001ugp.3_Silent_p.P297P	45	GBM-06-0195-TP	p.P297P	G	AGCGATAGGTGGGGATGCCTT	NM_005505	NP_005496	125292425	Q8WTV0	SCRB1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	7	1144	-	A	A	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Silent	297		P -> S (mutation carriers have increased HDL cholesterol levels and a reduction in cholesterol efflux from macrophages).	Extracellular (Potential).			
SCARB1	0	broad.mit.edu	GRCh37	12	125296422	125296422	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0871-01	TCGA-14-0871-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000415380.2:c.720G>A	p.Leu240=	p.L240=	ENST00000415380		240	ctG/ctA	0			1			T	L	uc001ugo.3	protein_coding					720/1659									kidney(1)	1	c.(718-720)CTG>CTA			hmmpanther:PTHR11923,hmmpanther:PTHR11923:SF49,Pfam_domain:PF01130	scavenger receptor class B, member 1 isoform 1	Phosphatidylserine(DB00144)			ENSP00000414979		12-May									COSM3398504,COSM3398505	12-May	.		ENST00000415380	Transcript	1		adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	ENSG00000073060	g.chr12:125296422C>T	1664			LOW								--	--	1																																		SCARB1_uc001ugn.3_Silent_p.L240L|SCARB1_uc001ugm.3_Silent_p.L240L|SCARB1_uc010tbd.1_Silent_p.L240L|SCARB1_uc010tbe.1_Silent_p.L199L|SCARB1_uc001ugp.3_Silent_p.L240L	1,1				p.L240L	NM_005505	NP_005496			1,1	SCRB1_HUMAN	SCARB1	HGNC	Q8WTV0	SCRB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)			5	973	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		UPI000006E977	240			Extracellular (Potential).		SNV	SCARB1,synonymous_variant,p.=,ENST00000339570,NM_001082959.1;SCARB1,synonymous_variant,p.=,ENST00000415380,;SCARB1,synonymous_variant,p.=,ENST00000261693,NM_005505.4;SCARB1,synonymous_variant,p.=,ENST00000541205,;SCARB1,synonymous_variant,p.=,ENST00000376788,;SCARB1,synonymous_variant,p.=,ENST00000540495,;SCARB1,synonymous_variant,p.=,ENST00000544327,;SCARB1,synonymous_variant,p.=,ENST00000546215,;SCARB1,downstream_gene_variant,,ENST00000545493,;SCARB1,non_coding_transcript_exon_variant,,ENST00000535005,;SCARB1,downstream_gene_variant,,ENST00000539320,;SCARB1,downstream_gene_variant,,ENST00000541661,;SCARB1,non_coding_transcript_exon_variant,,ENST00000538291,;	uc001ugo.3	c.720G>A	846/2731	1	1			c.720G>A						12	SNP	c.(718-720)CTG>CTA	2	2			kidney(1)	1	Broad	scavenger receptor class B, member 1 isoform 1		Phosphatidylserine(DB00144)	125296422		0.652	ENSG00000073060	13661	g.chr12:125296422C>T	adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity							31.516806	KEEP	3	11	-1	11	9	3	11	-1	31.887832	11	9	0.37931	1	0	0	0	0	0	0	1	0	--	--		0	T			SCARB1_uc001ugn.3_Silent_p.L240L|SCARB1_uc001ugm.3_Silent_p.L240L|SCARB1_uc010tbd.1_Silent_p.L240L|SCARB1_uc010tbe.1_Silent_p.L199L|SCARB1_uc001ugp.3_Silent_p.L240L	141	GBM-14-0871-TP	p.L240L	C	TCACCTTGCTCAGCCCGTTCC	NM_005505	NP_005496	125296422	Q8WTV0	SCRB1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	5	973	-	T	T	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Silent	240			Extracellular (Potential).			
SCARB2	0	broad.mit.edu	GRCh37	4	77102252	77102255	+	splice_acceptor_variant,coding_sequence_variant	Splice_Site	DEL	TCCC	TCCC	-	rs145870223		TCGA-19-5959-01	TCGA-19-5959-01	TCCC	TCCC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264896.2:c.276-1_278delGGGA		p.X92_splice	ENST00000264896	NM_005506.3			0			1			-		uc003hju.1	protein_coding	YES	CCDS3577.1			?-278/1437										0	c.e3-1				scavenger receptor class B, member 2				ENSP00000264896		12-Mar										12-Mar	.		ENST00000264896	Transcript	1		cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity	ENSG00000138760	g.chr4:77102252_77102255delTCCC	1665			HIGH	11-Feb							--	--	1																																		SCARB2_uc011cbu.1_Intron		1			p.R92_splice	NM_005506	NP_005497				SCRB2_HUMAN	SCARB2	HGNC	Q14108	SCRB2_HUMAN	Lung(101;0.196)				3	615	-			UPI0000032D38						deletion	SCARB2,splice_acceptor_variant,,ENST00000264896,NM_005506.3;SCARB2,intron_variant,,ENST00000452464,NM_001204255.1;SCARB2,splice_acceptor_variant,,ENST00000509994,;SCARB2,splice_acceptor_variant,,ENST00000502908,;	uc003hju.1	c.276_splice	?-628/4763	5	5			c.276_splice						4	DEL	c.e3-1	59	59				0	Broad	scavenger receptor class B, member 2			77102255		0.319	ENSG00000138760	13662	g.chr4:77102252_77102255delTCCC	cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity																				0.32	1	1	0	1	0	0	0	0	1	--	--		0	-			SCARB2_uc011cbu.1_Intron	177	GBM-19-5959-TP	p.R92_splice	TCCC	GTTTCTGAGTTCCCTAAAAGAAAG	NM_005506	NP_005497	77102252	Q14108	SCRB2_HUMAN	0	Lung(101;0.196)		3	615	-	-	-			Splice_Site							
SCARF2	91179	broad.mit.edu	GRCh37	22	20784714	20784714	+	splice_donor_variant	Splice_Site	SNP	A	A	C			TCGA-06-0152-01	TCGA-06-0152-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266214.5:c.1202+2T>G		p.X401_splice	ENST00000266214	NM_153334.4	401		0			1			C		uc002zsj.1	protein_coding	YES	CCDS13779.1			1202/2613									breast(1)	1	c.e6+1				scavenger receptor class F, member 2 isoform 1				ENSP00000266214											COSM3748166		.		ENST00000266214	Transcript	1		cell adhesion	integral to membrane	protein binding|receptor activity	ENSG00000244486	g.chr22:20784714A>C	19869			HIGH	10-Jun							--	--	1																																		SCARF2_uc002zsk.1_Splice_Site_p.H401_splice	1	1			p.H401_splice	NM_153334	NP_699165			1	SREC2_HUMAN	SCARF2	HGNC	Q96GP6	SREC2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)				6	1307	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	UPI0000135F1C						SNV	SCARF2,splice_donor_variant,,ENST00000405555,NM_182895.2;SCARF2,splice_donor_variant,,ENST00000266214,NM_153334.4;KLHL22,splice_donor_variant,,ENST00000429594,;SCARF2,upstream_gene_variant,,ENST00000494535,;	uc002zsj.1	c.1202_splice	-/3278	5	4			c.1202_splice						22	SNP	c.e6+1	48	48			breast(1)	1	Broad	scavenger receptor class F, member 2 isoform 1			20784714		0.711	ENSG00000244486	13664	g.chr22:20784714A>C	cell adhesion	integral to membrane	protein binding|receptor activity							11.026381	KEEP	4	1	-1	2	0	4	1	-1	11.070242	2	0	0.6	1	0	0	0	0	0	0	0	1	--	--		0	C			SCARF2_uc002zsk.1_Splice_Site_p.H401_splice	25	GBM-06-0152-TP	p.H401_splice	A	CGGGGCACTCACTGGGGCCCG	NM_153334	NP_699165	20784714	Q96GP6	SREC2_HUMAN	0	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		6	1307	-	C	C	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	Splice_Site							
SCEL	8796	broad.mit.edu	GRCh37	13	78176839	78176839	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs144213801		TCGA-06-0174-01	TCGA-06-0174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000349847.3:c.1028C>T	p.Thr343Met	p.T343M	ENST00000349847	NM_144777.2	343	aCg/aTg	0	T:0	T:0	1	T:0		T	T/M	uc001vki.2	protein_coding	YES	CCDS9459.1			1028/2067									ovary(4)|breast(1)	5	c.(1027-1029)ACG>ATG			hmmpanther:PTHR15468:SF6,hmmpanther:PTHR15468	sciellin isoform 1		T:0	T:0.0002	ENSP00000302579	T:0	17/33	0.000132		0.00026			6.00E-05		0.000546	rs144213801,COSM3399450	17/33	common_variant		ENST00000349847	Transcript		T:0.0002	embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	ENSG00000136155	g.chr13:78176839C>T	10573			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=SCEL_HUMAN&rb=260&re=459&var=T343M	NA	getma.org/?cm=var&var=hg19,13,78176839,C,T&fts=all	T343M	--	--	1																																		SCEL_uc001vkj.2_Missense_Mutation_p.T323M|SCEL_uc010thx.1_Missense_Mutation_p.T321M	0,1	1		benign(0.024)	p.T343M	NM_144777	NP_659001	T:0.001	tolerated(0.08)	0,1	SCEL_HUMAN	SCEL	HGNC	O95171	SCEL_HUMAN		GBM - Glioblastoma multiforme(99;0.0233)			17	1198	+		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)	UPI000013CFF1	343			16 X approximate tandem repeats.|5.		SNV	SCEL,missense_variant,p.Thr321Met,ENST00000535157,NM_001160706.1;SCEL,missense_variant,p.Thr323Met,ENST00000377246,NM_003843.3;SCEL,missense_variant,p.Thr343Met,ENST00000349847,NM_144777.2;SCEL-AS1,intron_variant,,ENST00000456280,;SCEL-AS1,intron_variant,,ENST00000457528,;SCEL,intron_variant,,ENST00000469982,;SCEL,3_prime_UTR_variant,,ENST00000471491,;	uc001vki.2	c.1028C>T	1112/2386	2	2			c.1028C>T						13	SNP	c.(1027-1029)ACG>ATG	32	32			ovary(4)|breast(1)	5	Broad	sciellin isoform 1			78176839		0.348	ENSG00000136155	13668	g.chr13:78176839C>T	embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding							-39.060325	KEEP	3	1	-1	107	90	3	1	-1	6.790942	107	90	0.022222	1	0	0	0	0	1	0	0	0	--	--		0	T			SCEL_uc001vkj.2_Missense_Mutation_p.T323M|SCEL_uc010thx.1_Missense_Mutation_p.T321M	37	GBM-06-0174-TP	p.T343M	C	ATGAATAAAACGAGCAGAAGG	NM_144777	NP_659001	78176839	O95171	SCEL_HUMAN	0		GBM - Glioblastoma multiforme(99;0.0233)	17	1198	+	T	T		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)	Missense_Mutation	343			16 X approximate tandem repeats.|5.			
SCFD1	23256	broad.mit.edu	GRCh37	14	31139520	31139520	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0648-01	TCGA-06-0648-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000458591.2:c.914C>G	p.Ala305Gly	p.A305G	ENST00000458591	NM_016106.3	305	gCt/gGt	0			1			G	A/G	uc001wqm.1	protein_coding	YES	CCDS9639.1			914/1929										0	c.(913-915)GCT>GGT			Superfamily_domains:SSF56815,PIRSF_domain:PIRSF005715,Pfam_domain:PF00995,Gene3D:3.90.830.10,hmmpanther:PTHR11679:SF2,hmmpanther:PTHR11679	vesicle transport-related protein isoform a				ENSP00000390783		25-Nov									COSM3401283	25-Nov	.		ENST00000458591	Transcript			post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding	ENSG00000092108	g.chr14:31139520C>G	20726			MODERATE		0.435	neutral	getma.org/?cm=msa&ty=f&p=SCFD1_HUMAN&rb=43&re=636&var=A305G	getma.org/pdb.php?prot=SCFD1_HUMAN&from=43&to=636&var=A305G	getma.org/?cm=var&var=hg19,14,31139520,C,G&fts=all	A305G	--	--	1																																		SCFD1_uc001wqn.1_Missense_Mutation_p.A238G|SCFD1_uc010tpg.1_Missense_Mutation_p.A246G|SCFD1_uc010tph.1_Missense_Mutation_p.A120G|SCFD1_uc010amf.1_Missense_Mutation_p.A120G|SCFD1_uc010tpi.1_Missense_Mutation_p.A213G|SCFD1_uc010amd.1_Missense_Mutation_p.A137G|SCFD1_uc010ame.1_Missense_Mutation_p.A238G	1	1		benign(0.006)	p.A305G	NM_016106	NP_057190		tolerated(0.2)	1	SCFD1_HUMAN	SCFD1	HGNC	Q8WVM8	SCFD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)	G3V5E2_HUMAN,G3V2M8_HUMAN,B7Z5N7_HUMAN		11	938	+	Hepatocellular(127;0.0877)		UPI000013C6E3	305					SNV	SCFD1,missense_variant,p.Ala305Gly,ENST00000458591,NM_016106.3;SCFD1,missense_variant,p.Ala238Gly,ENST00000544052,NM_182835.2;SCFD1,missense_variant,p.Ala213Gly,ENST00000396629,NM_001257376.1;SCFD1,missense_variant,p.Ala120Gly,ENST00000541123,NM_001283031.1;SCFD1,missense_variant,p.Ala246Gly,ENST00000421551,NM_001283032.1;SCFD1,non_coding_transcript_exon_variant,,ENST00000554819,;SCFD1,3_prime_UTR_variant,,ENST00000484733,;SCFD1,3_prime_UTR_variant,,ENST00000311943,NM_001283031.1;SCFD1,3_prime_UTR_variant,,ENST00000463622,NM_001283032.1;SCFD1,3_prime_UTR_variant,,ENST00000556768,NM_001283033.1;SCFD1,3_prime_UTR_variant,,ENST00000555259,;SCFD1,non_coding_transcript_exon_variant,,ENST00000553278,;SCFD1,upstream_gene_variant,,ENST00000555953,;	uc001wqm.1	c.914C>G	1141/2359	3	3			c.914C>G						14	SNP	c.(913-915)GCT>GGT	14	14				0	Broad	vesicle transport-related protein isoform a			31139520		0.328	ENSG00000092108	13669	g.chr14:31139520C>G	post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding							-5.780256	KEEP	9	7	-1	119	109	9	7	-1	40.192298	119	109	0.064378	1	0	0	0	0	1	0	0	0	--	--		0	G			SCFD1_uc001wqn.1_Missense_Mutation_p.A238G|SCFD1_uc010tpg.1_Missense_Mutation_p.A246G|SCFD1_uc010tph.1_Missense_Mutation_p.A120G|SCFD1_uc010amf.1_Missense_Mutation_p.A120G|SCFD1_uc010tpi.1_Missense_Mutation_p.A213G|SCFD1_uc010amd.1_Missense_Mutation_p.A137G|SCFD1_uc010ame.1_Missense_Mutation_p.A238G	61	GBM-06-0648-TP	p.A305G	C	AACTCTCCAGCTGGTGCTAGA	NM_016106	NP_057190	31139520	Q8WVM8	SCFD1_HUMAN	0	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)	11	938	+	G	G	Hepatocellular(127;0.0877)		Missense_Mutation	305						
SCFD1	0	broad.mit.edu	GRCh37	14	31142541	31142541	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-76-4927-01	TCGA-76-4927-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000458591.2:c.1074T>C	p.Leu358=	p.L358=	ENST00000458591	NM_016106.3	358	ctT/ctC	0			1			C	L	uc001wqm.1	protein_coding	YES	CCDS9639.1			1074/1929										0	c.(1072-1074)CTT>CTC			Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF56815,PIRSF_domain:PIRSF005715,Pfam_domain:PF00995,Gene3D:3.90.830.10,hmmpanther:PTHR11679:SF2,hmmpanther:PTHR11679	vesicle transport-related protein isoform a				ENSP00000390783		25-Dec									COSM3401284	25-Dec	.		ENST00000458591	Transcript			post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding	ENSG00000092108	g.chr14:31142541T>C	20726			LOW								--	--	1																																		SCFD1_uc001wqn.1_Silent_p.L291L|SCFD1_uc010tpg.1_Silent_p.L299L|SCFD1_uc010tph.1_Silent_p.L173L|SCFD1_uc010amf.1_Silent_p.L173L|SCFD1_uc010tpi.1_Silent_p.L266L|SCFD1_uc010amd.1_Silent_p.L190L|SCFD1_uc010ame.1_Silent_p.L291L	1	1			p.L358L	NM_016106	NP_057190			1	SCFD1_HUMAN	SCFD1	HGNC	Q8WVM8	SCFD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)	G3V5E2_HUMAN,G3V2M8_HUMAN,B7Z5N7_HUMAN		12	1098	+	Hepatocellular(127;0.0877)		UPI000013C6E3	358					SNV	SCFD1,synonymous_variant,p.=,ENST00000458591,NM_016106.3;SCFD1,synonymous_variant,p.=,ENST00000544052,NM_182835.2;SCFD1,synonymous_variant,p.=,ENST00000396629,NM_001257376.1;SCFD1,synonymous_variant,p.=,ENST00000541123,NM_001283031.1;SCFD1,synonymous_variant,p.=,ENST00000421551,NM_001283032.1;SCFD1,non_coding_transcript_exon_variant,,ENST00000554819,;SCFD1,upstream_gene_variant,,ENST00000554486,;SCFD1,3_prime_UTR_variant,,ENST00000484733,;SCFD1,3_prime_UTR_variant,,ENST00000311943,NM_001283031.1;SCFD1,3_prime_UTR_variant,,ENST00000463622,NM_001283032.1;SCFD1,3_prime_UTR_variant,,ENST00000556768,NM_001283033.1;SCFD1,3_prime_UTR_variant,,ENST00000555259,;SCFD1,non_coding_transcript_exon_variant,,ENST00000553278,;SCFD1,non_coding_transcript_exon_variant,,ENST00000555953,;	uc001wqm.1	c.1074T>C	1301/2359	3	3			c.1074T>C						14	SNP	c.(1072-1074)CTT>CTC	61	61				0	Broad	vesicle transport-related protein isoform a			31142541		0.338	ENSG00000092108	13669	g.chr14:31142541T>C	post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding							-23.177247	KEEP	3	1	-1	53	77	3	1	-1	7.130938	53	77	0.024793	1	0	0	0	0	0	0	1	0	--	--		0	C			SCFD1_uc001wqn.1_Silent_p.L291L|SCFD1_uc010tpg.1_Silent_p.L299L|SCFD1_uc010tph.1_Silent_p.L173L|SCFD1_uc010amf.1_Silent_p.L173L|SCFD1_uc010tpi.1_Silent_p.L266L|SCFD1_uc010amd.1_Silent_p.L190L|SCFD1_uc010ame.1_Silent_p.L291L	267	GBM-76-4927-TP	p.L358L	T	TCAAACGACTTAAAAGCATTA	NM_016106	NP_057190	31142541	Q8WVM8	SCFD1_HUMAN	0	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)	12	1098	+	C	C	Hepatocellular(127;0.0877)		Silent	358						
SCG2	0	broad.mit.edu	GRCh37	2	224463759	224463759	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-1747-01	TCGA-28-1747-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305409.2:c.242A>G	p.Tyr81Cys	p.Y81C	ENST00000305409	NM_003469.4	81	tAc/tGc	0			1			C	Y/C	uc002vnm.2	protein_coding	YES	CCDS2457.1			242/1854									ovary(1)	1	c.(241-243)TAC>TGC			Pfam_domain:PF01271,hmmpanther:PTHR15119,hmmpanther:PTHR15119:SF0	secretogranin II precursor				ENSP00000304133		2-Feb									COSM3407613	2-Feb	.		ENST00000305409	Transcript			angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	ENSG00000171951	g.chr2:224463759T>C	10575			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=SCG2_HUMAN&rb=27&re=614&var=Y81C	NA	getma.org/?cm=var&var=hg19,2,224463759,T,C&fts=all	Y81C	--	--	1																																			1	1		probably_damaging(0.983)	p.Y81C	NM_003469	NP_003460		deleterious(0.01)	1	SCG2_HUMAN	SCG2	HGNC	P13521	SCG2_HUMAN		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	C9JQI2_HUMAN,C9JDT0_HUMAN		2	375	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	UPI000013EA45	81					SNV	SCG2,missense_variant,p.Tyr81Cys,ENST00000305409,NM_003469.4;SCG2,missense_variant,p.Tyr81Cys,ENST00000421386,;SCG2,missense_variant,p.Tyr81Cys,ENST00000433889,;	uc002vnm.2	c.242A>G	475/2576	3	3			c.242A>G						2	SNP	c.(241-243)TAC>TGC	53	53			ovary(1)	1	Broad	secretogranin II precursor			224463759		0.448	ENSG00000171951	13671	g.chr2:224463759T>C	angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity							315.976919	KEEP	57	37	-1	87	71	57	37	-1	318.712816	87	71	0.384615	1	0	0	0	0	1	0	0	0	--	--		0	C				206	GBM-28-1747-TP	p.Y81C	T	GACACCTTGGTAGGGATTATA	NM_003469	NP_003460	224463759	P13521	SCG2_HUMAN	0		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	375	-	C	C		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	Missense_Mutation	81						
SCG2	7857		GRCh37	2	224462380	224462380	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000305409.2:c.1621G>A	p.Glu541Lys	p.E541K	ENST00000305409	NM_003469.4	541	Gaa/Aaa	0																																																																																																																																																																																																																																												
SCGB1C1	0	broad.mit.edu	GRCh37	11	193135	193135	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-1034-01	TCGA-14-1034-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342878.2:c.36C>T	p.Leu12=	p.L12=	ENST00000342878	NM_145651.2	12	ctC/ctT	0	T:0.0002		1			T	L	uc001loa.1	protein_coding	YES	CCDS41581.1			36/288									skin(1)	1	c.(34-36)CTC>CTT			hmmpanther:PTHR10136,hmmpanther:PTHR10136:SF7,Cleavage_site_(Signalp):SignalP-noTM	secretoglobin, family 1C, member 1 precursor			T:0	ENSP00000344545		3-Jan	8.25E-06	0.000103							rs377318266,COSM2155214	3-Jan	.		ENST00000342878	Transcript				extracellular region	binding	ENSG00000188076	g.chr11:193135C>T	18394			LOW								--	--	1																																			0,1	1			p.L12L	NM_145651	NP_663626			0,1	SG1C1_HUMAN	SCGB1C1	HGNC	Q8TD33	SG1C1_HUMAN		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)			1	56	+		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	UPI000014156C	12					SNV	SCGB1C1,synonymous_variant,p.=,ENST00000342878,NM_145651.2;BET1L,intron_variant,,ENST00000410108,;ODF3,upstream_gene_variant,,ENST00000325113,NM_053280.3;ODF3,upstream_gene_variant,,ENST00000525282,NM_001286136.1;ODF3,upstream_gene_variant,,ENST00000342593,;ODF3,upstream_gene_variant,,ENST00000531679,;	uc001loa.1	c.36C>T	56/431	2	2			c.36C>T						11	SNP	c.(34-36)CTC>CTT	42	42			skin(1)	1	Broad	secretoglobin, family 1C, member 1 precursor			193135		0.612	ENSG00000188076	13675	g.chr11:193135C>T		extracellular region	binding							11.878886	KEEP	1	10	-1	29	23	1	10	-1	17.829142	29	23	0.153846	1	0	0	0	0	0	0	1	0	--	--		0	T				142	GBM-14-1034-TP	p.L12L	C	TGGTGGCCCTCACCCTGTTCT	NM_145651	NP_663626	193135	Q8TD33	SG1C1_HUMAN	0		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	1	56	+	T	T		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	Silent	12						
SCIMP	0	broad.mit.edu	GRCh37	17	5118261	5118261	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000574081.1:c.242C>T	p.Pro81Leu	p.P81L	ENST00000574081	NM_001271842.1	81	cCg/cTg	0			1			A	P/L	uc002gbh.2	protein_coding	YES	CCDS42242.1			242/438									ovary(1)	1	c.(241-243)CCG>CTG			hmmpanther:PTHR12044,Pfam_domain:PF15050	hypothetical protein LOC388325				ENSP00000461269		5-Apr	8.27E-06			0.000116					rs749689759,COSM3403016	5-Apr	.		ENST00000574081	Transcript				integral to membrane		ENSG00000161929	g.chr17:5118261G>A	33504			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=SCIMP_HUMAN&rb=1&re=145&var=P81L	NA	getma.org/?cm=var&var=hg19,17,5118261,G,A&fts=all	P81L	--	--	1																																		uc002gbf.1_Intron|uc002gbg.1_Intron|C17orf87_uc010clb.1_Missense_Mutation_p.P74L|C17orf87_uc002gbi.2_Missense_Mutation_p.P74L	0,1	1		probably_damaging(0.999)	p.P81L	NM_207103	NP_996986		deleterious(0)	0,1	SCIMP_HUMAN	SCIMP	HGNC	Q6UWF3	CQ087_HUMAN					4	275	-			UPI0000048F58	81					SNV	SCIMP,missense_variant,p.Pro81Leu,ENST00000574081,NM_001271842.1,NM_207103.3;SCIMP,missense_variant,p.Pro74Leu,ENST00000571800,;SCIMP,missense_variant,p.Pro74Leu,ENST00000399600,;SCIMP,missense_variant,p.Pro81Leu,ENST00000574297,;RP11-333E1.1,intron_variant,,ENST00000571689,;RP11-333E1.1,intron_variant,,ENST00000575601,;	uc002gbh.2	c.242C>T	347/2383	2	2			c.242C>T						17	SNP	c.(241-243)CCG>CTG	18	18			ovary(1)	1	Broad	hypothetical protein LOC388325			5118261		0.433	ENSG00000161929	1847	g.chr17:5118261G>A		integral to membrane								-9.5719	KEEP	1	3	-1	48	64	1	3	-1	7.901082	48	64	0.049383	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002gbf.1_Intron|uc002gbg.1_Intron|C17orf87_uc010clb.1_Missense_Mutation_p.P74L|C17orf87_uc002gbi.2_Missense_Mutation_p.P74L	270	GBM-76-4931-TP	p.P81L	G	TGGCAGAGGCGGTAATTGAAC	NM_207103	NP_996986	5118261	Q6UWF3	CQ087_HUMAN	0			4	275	-	A	A			Missense_Mutation	81						
SCIN	0	broad.mit.edu	GRCh37	7	12683930	12683930	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297029.5:c.1749C>T	p.Gly583=	p.G583=	ENST00000297029	NM_001112706.2	583	ggC/ggT	0	T:0.0002		1			T	G	uc003ssn.3	protein_coding	YES	CCDS47545.1			1749/2148									ovary(2)	2	c.(1747-1749)GGC>GGT			Gene3D:3.40.20.10,Pfam_domain:PF00626,Prints_domain:PR00597,hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF14,SMART_domains:SM00262,Superfamily_domains:SSF55753	scinderin isoform 1			T:0	ENSP00000297029		16-Dec	2.50E-05	0.000238						0.000221	rs369378047,COSM3411556,COSM3411557	16-Dec	.		ENST00000297029	Transcript			actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	ENSG00000006747	g.chr7:12683930C>T	21695			LOW								--	--	1																																		SCIN_uc010ktt.2_Intron|SCIN_uc003sso.3_Silent_p.G336G	0,1,1	1			p.G583G	NM_001112706	NP_001106177			0,1,1	ADSV_HUMAN	SCIN	HGNC	Q9Y6U3	ADSV_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	Q8NBV9_HUMAN,Q75MG0_HUMAN		12	1959	+			UPI000013C4DF	583			Ca(2+)-dependent actin binding.		SNV	SCIN,synonymous_variant,p.=,ENST00000297029,NM_001112706.2;SCIN,synonymous_variant,p.=,ENST00000519209,NM_033128.3;SCIN,synonymous_variant,p.=,ENST00000445618,;SCIN,intron_variant,,ENST00000341757,;	uc003ssn.3	c.1749C>T	1850/3137	2	2			c.1749C>T						7	SNP	c.(1747-1749)GGC>GGT	24	24			ovary(2)	2	Broad	scinderin isoform 1			12683930		0.448	ENSG00000006747	13686	g.chr7:12683930C>T	actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding							18.416036	KEEP	3	5	-1	11	6	3	5	-1	19.063177	11	6	0.318182	1	0	0	0	0	0	0	1	0	--	--		0	T			SCIN_uc010ktt.2_Intron|SCIN_uc003sso.3_Silent_p.G336G	230	GBM-32-1979-TP	p.G583G	C	TCCAAGAAGGCGAGGAGCCAG	NM_001112706	NP_001106177	12683930	Q9Y6U3	ADSV_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	12	1959	+	T	T			Silent	583			Ca(2+)-dependent actin binding.			
SCLY	0	broad.mit.edu	GRCh37	2	239002554	239002554	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-27-2521-01	TCGA-27-2521-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254663.6:c.998A>T	p.Asp333Val	p.D333V	ENST00000254663	NM_016510.5	333	gAc/gTc	0			1			T	D/V	uc010fyv.2	protein_coding	YES	CCDS2524.2			998/1362									ovary(2)	2	c.(973-975)GAC>GTC			hmmpanther:PTHR11601:SF21,hmmpanther:PTHR11601,Gene3D:3.90.1150.10,Pfam_domain:PF00266,PIRSF_domain:PIRSF005572,Superfamily_domains:SSF53383	selenocysteine lyase				ENSP00000254663		12-Sep									COSM3407727	12-Sep	.		ENST00000254663	Transcript			cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity	ENSG00000132330	g.chr2:239002554A>T	18161			MODERATE		1.265	low	getma.org/?cm=msa&ty=f&p=SCLY_HUMAN&rb=32&re=430&var=D325V	getma.org/pdb.php?prot=SCLY_HUMAN&from=32&to=430&var=D325V	getma.org/?cm=var&var=hg19,2,239002554,A,T&fts=all	D325V	--	--	1																																		SCLY_uc002vxm.3_Missense_Mutation_p.D292V|SCLY_uc002vxn.2_3'UTR|SCLY_uc010znq.1_Missense_Mutation_p.D119V|SCLY_uc010znr.1_Missense_Mutation_p.D231V|SCLY_uc002vxp.3_5'Flank	1	1		benign(0.031)	p.D325V	NM_016510	NP_057594		tolerated(0.06)	1	SCLY_HUMAN	SCLY	HGNC	Q96I15	SCLY_HUMAN		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)	B4DDP9_HUMAN		9	1038	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	UPI0000EE3842	325					SNV	SCLY,missense_variant,p.Asp333Val,ENST00000254663,NM_016510.5;SCLY,missense_variant,p.Asp325Val,ENST00000555827,;SCLY,missense_variant,p.Asp155Val,ENST00000450965,;SCLY,missense_variant,p.Asp119Val,ENST00000429612,;SCLY,missense_variant,p.Asp231Val,ENST00000422984,;SCLY,missense_variant,p.Asp67Val,ENST00000433750,;SCLY,missense_variant,p.Asp120Val,ENST00000412508,;SCLY,intron_variant,,ENST00000437134,;SCLY,downstream_gene_variant,,ENST00000409736,;SCLY,downstream_gene_variant,,ENST00000373332,;SCLY,downstream_gene_variant,,ENST00000440143,;UBE2F-SCLY,3_prime_UTR_variant,,ENST00000449891,;SCLY,non_coding_transcript_exon_variant,,ENST00000480357,;SCLY,non_coding_transcript_exon_variant,,ENST00000463433,;SCLY,downstream_gene_variant,,ENST00000497951,;	uc010fyv.2	c.974A>T	1140/2562	1	1			c.974A>T						2	SNP	c.(973-975)GAC>GTC	12	12			ovary(2)	2	Broad	selenocysteine lyase			239002554		0.622	ENSG00000132330	13688	g.chr2:239002554A>T	cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity	Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)			Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)			40.190666	KEEP	9	9	-1	10	13	9	9	-1	40.408212	10	13	0.411765	1	0	0	0	0	1	0	0	0	--	--		0	T			SCLY_uc002vxm.3_Missense_Mutation_p.D292V|SCLY_uc002vxn.2_3'UTR|SCLY_uc010znq.1_Missense_Mutation_p.D119V|SCLY_uc010znr.1_Missense_Mutation_p.D231V|SCLY_uc002vxp.3_5'Flank	200	GBM-27-2521-TP	p.D325V	A	CACATGAGGGACGTCCGCGAC	NM_016510	NP_057594	239002554	Q96I15	SCLY_HUMAN	0		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)	9	1038	+	T	T		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	Missense_Mutation	325						
SCMH1	22955		GRCh37	1	41514522	41514522	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000402904.2:c.1116C>T	p.His372=	p.H372=	ENST00000402904	NM_001031694.2	372	caC/caT	0																																																																																																																																																																																																																																												
SCML2	10389	broad.mit.edu	GRCh37	X	18275064	18275064	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01	TCGA-06-0878-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251900.4:c.1360C>T	p.His454Tyr	p.H454Y	ENST00000251900	NM_006089.2	454	Cac/Tac	0			1			A	H/Y	uc004cyl.2	protein_coding	YES	CCDS14185.1			1360/2103										0	c.(1360-1362)CAC>TAC			Pfam_domain:PF12140,hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF76	sex comb on midleg-like 2				ENSP00000251900		15-Nov									COSM1557353	15-Nov	.		ENST00000251900	Transcript			anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000102098	g.chrX:18275064G>A	10581			MODERATE		2.19	medium	getma.org/?cm=msa&ty=f&p=SCML2_HUMAN&rb=353&re=468&var=H454Y	NA	getma.org/?cm=var&var=hg19,X,18275064,G,A&fts=all	H454Y	--	--	1																																		SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Missense_Mutation_p.H454Y|SCML2_uc011miz.1_Missense_Mutation_p.H388Y|SCML2_uc010nfc.2_Missense_Mutation_p.H190Y	1	1		probably_damaging(0.952)	p.H454Y	NM_006089	NP_006080		deleterious(0)	1	SCML2_HUMAN	SCML2	HGNC	Q9UQR0	SCML2_HUMAN					11	1517	-	Hepatocellular(33;0.183)		UPI0000071E54	454					SNV	SCML2,missense_variant,p.His454Tyr,ENST00000251900,NM_006089.2;SCML2,missense_variant,p.His190Tyr,ENST00000398048,;	uc004cyl.2	c.1360C>T	1520/4200	2	2			c.1360C>T						23	SNP	c.(1360-1362)CAC>TAC	20	20				0	Broad	sex comb on midleg-like 2			18275064		0.468	ENSG00000102098	13691	g.chrX:18275064G>A	anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	Esophageal Squamous(100;1252 1965 19021 35517)			Esophageal Squamous(100;1252 1965 19021 35517)			40.044212	KEEP	11	14	-1	56	92	11	14	-1	59.810343	56	92	0.142857	1	0	0	0	0	1	0	0	0	--	--		0	A			SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Missense_Mutation_p.H454Y|SCML2_uc011miz.1_Missense_Mutation_p.H388Y|SCML2_uc010nfc.2_Missense_Mutation_p.H190Y	74	GBM-06-0878-TP	p.H454Y	G	TGCAGACTGTGGCAGAAGTTC	NM_006089	NP_006080	18275064	Q9UQR0	SCML2_HUMAN	0			11	1517	-	A	A	Hepatocellular(33;0.183)		Missense_Mutation	454						
SCN10A	6336	broad.mit.edu	GRCh37	3	38739171	38739171	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs148537653		TCGA-02-2486-01	TCGA-02-2486-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449082.2:c.5540G>A	p.Arg1847Gln	p.R1847Q	ENST00000449082	NM_006514.2	1847	cGa/cAa	0			1			T	R/Q	uc003ciq.2	protein_coding	YES	CCDS33736.1			5540/5871									ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10	c.(5539-5541)CGA>CAA			hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF23	sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)			ENSP00000390600		27/27	7.41E-05		8.64E-05			0.00012			rs148537653,COSM3408646	27/27	.		ENST00000449082	Transcript	1		sensory perception	voltage-gated sodium channel complex		ENSG00000185313	g.chr3:38739171C>T	10582			MODERATE		2.185	medium	getma.org/?cm=msa&ty=f&p=SCNAA_HUMAN&rb=1722&re=1921&var=R1847Q	getma.org/pdb.php?prot=SCNAA_HUMAN&from=1722&to=1921&var=R1847Q	getma.org/?cm=var&var=hg19,3,38739171,C,T&fts=all	R1847Q	--	--	1																																			0,1	1		benign(0.426)	p.R1847Q	NM_006514	NP_006505		deleterious(0.01)	0,1	SCNAA_HUMAN	SCN10A	HGNC	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)			27	5540	-			UPI0000209BDA	1847					SNV	SCN10A,missense_variant,p.Arg1847Gln,ENST00000449082,NM_006514.2;	uc003ciq.2	c.5540G>A	5540/6418	2	2			c.5540G>A						3	SNP	c.(5539-5541)CGA>CAA	24	24			ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10	Broad	sodium channel, voltage-gated, type X, alpha		Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	38739171		0.473	ENSG00000185313	13693	g.chr3:38739171C>T	sensory perception	voltage-gated sodium channel complex								157.052413	KEEP	39	35	-1	24	35	39	35	-1	157.054675	24	35	0.505051	1	0	0	0	0	1	0	0	0	--	--		0	T				8	GBM-02-2486-TP	p.R1847Q	C	TTGCTTCCATCGGAGAGTGGT	NM_006514	NP_006505	38739171	Q9Y5Y9	SCNAA_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	27	5540	-	T	T			Missense_Mutation	1847						
SCN10A	6336	broad.mit.edu	GRCh37	3	38765036	38765036	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449082.2:c.3237C>T	p.Asp1079=	p.D1079=	ENST00000449082	NM_006514.2	1079	gaC/gaT	0			1			A	D	uc003ciq.2	protein_coding	YES	CCDS33736.1			3237/5871									ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10	c.(3235-3237)GAC>GAT			Pfam_domain:PF06512,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF23	sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)			ENSP00000390600		18/27	2.49E-05					0.000102			rs745921364	18/27	.		ENST00000449082	Transcript	1		sensory perception	voltage-gated sodium channel complex		ENSG00000185313	g.chr3:38765036G>A	10582			LOW								--	--	1																																				1			p.D1079D	NM_006514	NP_006505				SCNAA_HUMAN	SCN10A	HGNC	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)			18	3237	-			UPI0000209BDA	1079					SNV	SCN10A,synonymous_variant,p.=,ENST00000449082,NM_006514.2;	uc003ciq.2	c.3237C>T	3237/6418	1	1			c.3237C>T						3	SNP	c.(3235-3237)GAC>GAT	55	55			ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10	Broad	sodium channel, voltage-gated, type X, alpha		Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	38765036		0.512	ENSG00000185313	13693	g.chr3:38765036G>A	sensory perception	voltage-gated sodium channel complex								24.132866	KEEP	6	4	-1	14	12	6	4	-1	25.73369	14	12	0.277778	1	0	0	0	0	0	0	1	0	--	--		0	A				18	GBM-06-0137-TP	p.D1079D	G	AGCTTGTGTCGTCCACTCCCT	NM_006514	NP_006505	38765036	Q9Y5Y9	SCNAA_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	18	3237	-	A	A			Silent	1079						
SCN10A	6336	broad.mit.edu	GRCh37	3	38770224	38770224	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449082.2:c.2449C>T	p.Arg817Ter	p.R817*	ENST00000449082	NM_006514.2	817	Cga/Tga	0			1			A	R/*	uc003ciq.2	protein_coding	YES	CCDS33736.1			2449/5871								p.R817*(1)	ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10	c.(2449-2451)CGA>TGA			Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF23,Superfamily_domains:SSF81324	sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)			ENSP00000390600		15/27	8.24E-06					1.50E-05			rs763084100,COSM79043	15/27	.		ENST00000449082	Transcript	1		sensory perception	voltage-gated sodium channel complex		ENSG00000185313	g.chr3:38770224G>A	10582			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,3,38770224,G,A&fts=all	R817*	--	--	1																																			0,1	1			p.R817*	NM_006514	NP_006505			0,1	SCNAA_HUMAN	SCN10A	HGNC	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)			15	2449	-			UPI0000209BDA	817			II.		SNV	SCN10A,stop_gained,p.Arg817Ter,ENST00000449082,NM_006514.2;	uc003ciq.2	c.2449C>T	2449/6418	5	2			c.2449C>T						3	SNP	c.(2449-2451)CGA>TGA	18	18		p.R817*(1)	ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10	Broad	sodium channel, voltage-gated, type X, alpha		Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	38770224		0.532	ENSG00000185313	13693	g.chr3:38770224G>A	sensory perception	voltage-gated sodium channel complex								127.248284	KEEP	23	21	-1	37	43	23	21	-1	129.117465	37	43	0.362832	1	0	0	0	0	0	1	0	0	--	--		0	A				18	GBM-06-0137-TP	p.R817*	G	ATATTTTTTCGGTTGTTACGG	NM_006514	NP_006505	38770224	Q9Y5Y9	SCNAA_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	15	2449	-	A	A			Nonsense_Mutation	817			II.			
SCN10A	6336	broad.mit.edu	GRCh37	3	38783979	38783979	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0743-01	TCGA-06-0743-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449082.2:c.1909A>T	p.Ser637Cys	p.S637C	ENST00000449082	NM_006514.2	637	Agc/Tgc	0			1			A	S/C	uc003ciq.2	protein_coding	YES	CCDS33736.1			1909/5871									ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10	c.(1909-1911)AGC>TGC			hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF23	sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)			ENSP00000390600		13/27									COSM3408648	13/27	.		ENST00000449082	Transcript	1		sensory perception	voltage-gated sodium channel complex		ENSG00000185313	g.chr3:38783979T>A	10582			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=SCNAA_HUMAN&rb=597&re=698&var=S637C	NA	getma.org/?cm=var&var=hg19,3,38783979,T,A&fts=all	S637C	--	--	1																																			1	1		benign(0.353)	p.S637C	NM_006514	NP_006505		deleterious(0)	1	SCNAA_HUMAN	SCN10A	HGNC	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)			13	1909	-			UPI0000209BDA	637					SNV	SCN10A,missense_variant,p.Ser637Cys,ENST00000449082,NM_006514.2;	uc003ciq.2	c.1909A>T	1909/6418	1	1			c.1909A>T						3	SNP	c.(1909-1911)AGC>TGC	64	64			ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10	Broad	sodium channel, voltage-gated, type X, alpha		Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	38783979		0.468	ENSG00000185313	13693	g.chr3:38783979T>A	sensory perception	voltage-gated sodium channel complex								192.585508	KEEP	27	45	-1	74	74	27	45	-1	197.580682	74	74	0.331658	1	0	0	0	0	1	0	0	0	--	--		0	A				65	GBM-06-0743-TP	p.S637C	T	TGAGACAAGCTGGTCAAGCAG	NM_006514	NP_006505	38783979	Q9Y5Y9	SCNAA_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	13	1909	-	A	A			Missense_Mutation	637						
SCN10A	6336	broad.mit.edu	GRCh37	3	38770174	38770174	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5408-01	TCGA-06-5408-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449082.2:c.2499C>T	p.His833=	p.H833=	ENST00000449082	NM_006514.2	833	caC/caT	0			1			A	H	uc003ciq.2	protein_coding	YES	CCDS33736.1			2499/5871									ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10	c.(2497-2499)CAC>CAT			Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF23,Superfamily_domains:SSF81324	sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)			ENSP00000390600		15/27									COSM3408647	15/27	.		ENST00000449082	Transcript	1		sensory perception	voltage-gated sodium channel complex		ENSG00000185313	g.chr3:38770174G>A	10582			LOW								--	--	1																																			1	1			p.H833H	NM_006514	NP_006505			1	SCNAA_HUMAN	SCN10A	HGNC	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)			15	2499	-			UPI0000209BDA	833			II.		SNV	SCN10A,synonymous_variant,p.=,ENST00000449082,NM_006514.2;	uc003ciq.2	c.2499C>T	2499/6418	2	2			c.2499C>T						3	SNP	c.(2497-2499)CAC>CAT	21	21			ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10	Broad	sodium channel, voltage-gated, type X, alpha		Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	38770174		0.512	ENSG00000185313	13693	g.chr3:38770174G>A	sensory perception	voltage-gated sodium channel complex								89.542858	KEEP	16	16	-1	19	19	16	16	-1	89.573971	19	19	0.47619	1	0	0	0	0	0	0	1	0	--	--		0	A				92	GBM-06-5408-TP	p.H833H	G	GGAAGAAGTCGTGCATGTGCC	NM_006514	NP_006505	38770174	Q9Y5Y9	SCNAA_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	15	2499	-	A	A			Silent	833			II.			
SCN10A	0	broad.mit.edu	GRCh37	3	38755494	38755494	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449082.2:c.3759C>T	p.Arg1253=	p.R1253=	ENST00000449082	NM_006514.2	1253	cgC/cgT	0			1			A	R	uc003ciq.2	protein_coding	YES	CCDS33736.1			3759/5871									ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10	c.(3757-3759)CGC>CGT			Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF23,Low_complexity_(Seg):seg,Superfamily_domains:SSF81324	sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)			ENSP00000390600		21/27	1.65E-05			0.000116		1.50E-05			rs749134108,COSM2153651	21/27	.		ENST00000449082	Transcript	1		sensory perception	voltage-gated sodium channel complex		ENSG00000185313	g.chr3:38755494G>A	10582			LOW								--	--	1																																			0,1	1			p.R1253R	NM_006514	NP_006505			0,1	SCNAA_HUMAN	SCN10A	HGNC	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)			21	3759	-			UPI0000209BDA	1253			III.|Helical; Voltage-sensor; Name=S4 of repeat III; (Potential).		SNV	SCN10A,synonymous_variant,p.=,ENST00000449082,NM_006514.2;	uc003ciq.2	c.3759C>T	3759/6418	1	1			c.3759C>T						3	SNP	c.(3757-3759)CGC>CGT	58	58			ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10	Broad	sodium channel, voltage-gated, type X, alpha		Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	38755494		0.443	ENSG00000185313	13693	g.chr3:38755494G>A	sensory perception	voltage-gated sodium channel complex								154.444814	KEEP	26	42	-1	61	84	26	42	-1	160.297614	61	84	0.309392	1	0	0	0	0	0	0	1	0	--	--		0	A				120	GBM-12-0619-TP	p.R1253R	G	GCCGCAGAGCGCGAAGGGTTC	NM_006514	NP_006505	38755494	Q9Y5Y9	SCNAA_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	21	3759	-	A	A			Silent	1253			III.|Helical; Voltage-sensor; Name=S4 of repeat III; (Potential).			
SCN10A	0	broad.mit.edu	GRCh37	3	38748876	38748876	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C			TCGA-19-2623-01	TCGA-19-2623-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449082.2:c.4282-2A>G		p.X1428_splice	ENST00000449082	NM_006514.2			0			1			C		uc003ciq.2	protein_coding	YES	CCDS33736.1			4282/5871									ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10	c.e25-1				sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)			ENSP00000390600											COSM3748239		.		ENST00000449082	Transcript	1		sensory perception	voltage-gated sodium channel complex		ENSG00000185313	g.chr3:38748876T>C	10582			HIGH	24/26							--	--	1																																			1	1			p.L1428_splice	NM_006514	NP_006505			1	SCNAA_HUMAN	SCN10A	HGNC	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)			25	4282	-			UPI0000209BDA						SNV	SCN10A,splice_acceptor_variant,,ENST00000449082,NM_006514.2;	uc003ciq.2	c.4282_splice	-/6418	5	4			c.4282_splice						3	SNP	c.e25-1	43	43			ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10	Broad	sodium channel, voltage-gated, type X, alpha		Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	38748876		0.512	ENSG00000185313	13693	g.chr3:38748876T>C	sensory perception	voltage-gated sodium channel complex								128.301197	KEEP	24	20	-1	38	33	24	20	-1	129.362979	38	33	0.394495	1	0	0	0	0	0	0	0	1	--	--		0	C				163	GBM-19-2623-TP	p.L1428_splice	T	GCCCCCTAAGTGCAGAGAGGG	NM_006514	NP_006505	38748876	Q9Y5Y9	SCNAA_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	25	4282	-	C	C			Splice_Site							
SCN10A	0	broad.mit.edu	GRCh37	3	38835414	38835414	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01	TCGA-26-6174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449082.2:c.88G>A	p.Ala30Thr	p.A30T	ENST00000449082	NM_006514.2	30	Gcc/Acc	0			1			T	A/T	uc003ciq.2	protein_coding	YES	CCDS33736.1			88/5871									ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10	c.(88-90)GCC>ACC				sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)			ENSP00000390600		27-Jan									COSM2987080	27-Jan	.		ENST00000449082	Transcript	1		sensory perception	voltage-gated sodium channel complex		ENSG00000185313	g.chr3:38835414C>T	10582			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=SCNAA_HUMAN&rb=1&re=154&var=A30T	NA	getma.org/?cm=var&var=hg19,3,38835414,C,T&fts=all	A30T	--	--	1																																			1	1		possibly_damaging(0.821)	p.A30T	NM_006514	NP_006505		tolerated(0.09)	1	SCNAA_HUMAN	SCN10A	HGNC	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)			1	88	-			UPI0000209BDA	30					SNV	SCN10A,missense_variant,p.Ala30Thr,ENST00000449082,NM_006514.2;	uc003ciq.2	c.88G>A	88/6418	2	2			c.88G>A						3	SNP	c.(88-90)GCC>ACC	22	22			ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10	Broad	sodium channel, voltage-gated, type X, alpha		Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	38835414		0.507	ENSG00000185313	13693	g.chr3:38835414C>T	sensory perception	voltage-gated sodium channel complex								106.635286	KEEP	27	24	-1	58	68	27	24	-1	113.768926	58	68	0.27673	1	0	0	0	0	1	0	0	0	--	--		0	T				188	GBM-26-6174-TP	p.A30T	C	CCCTGCTTGGCAGCAATTTGC	NM_006514	NP_006505	38835414	Q9Y5Y9	SCNAA_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	1	88	-	T	T			Missense_Mutation	30						
SCN10A	0	broad.mit.edu	GRCh37	3	38812783	38812783	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01	TCGA-41-2572-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449082.2:c.586G>A	p.Val196Ile	p.V196I	ENST00000449082	NM_006514.2	196	Gtc/Atc	0			1			T	V/I	uc003ciq.2	protein_coding	YES	CCDS33736.1			586/5871									ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10	c.(586-588)GTC>ATC			Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF23,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix	sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)			ENSP00000390600		27-Apr									COSM187343	27-Apr	.		ENST00000449082	Transcript	1		sensory perception	voltage-gated sodium channel complex		ENSG00000185313	g.chr3:38812783C>T	10582			MODERATE		1.535	low	getma.org/?cm=msa&ty=f&p=SCNAA_HUMAN&rb=155&re=396&var=V196I	getma.org/pdb.php?prot=SCNAA_HUMAN&from=155&to=396&var=V196I	getma.org/?cm=var&var=hg19,3,38812783,C,T&fts=all	V196I	--	--	1																																			1	1		probably_damaging(0.927)	p.V196I	NM_006514	NP_006505		tolerated(0.1)	1	SCNAA_HUMAN	SCN10A	HGNC	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)			4	586	-			UPI0000209BDA	196			I.|Helical; Name=S3 of repeat I; (Potential).		SNV	SCN10A,missense_variant,p.Val196Ile,ENST00000449082,NM_006514.2;	uc003ciq.2	c.586G>A	586/6418	2	2			c.586G>A						3	SNP	c.(586-588)GTC>ATC	29	29			ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10	Broad	sodium channel, voltage-gated, type X, alpha		Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	38812783		0.353	ENSG00000185313	13693	g.chr3:38812783C>T	sensory perception	voltage-gated sodium channel complex								243.603368	KEEP	32	69	-1	84	79	32	69	-1	246.907212	84	79	0.372294	1	0	0	0	0	1	0	0	0	--	--		0	T				251	GBM-41-2572-TP	p.V196I	C	AGGGTAATGACGCTAAAATCC	NM_006514	NP_006505	38812783	Q9Y5Y9	SCNAA_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	4	586	-	T	T			Missense_Mutation	196			I.|Helical; Name=S3 of repeat I; (Potential).			
SCN11A	0	broad.mit.edu	GRCh37	3	38913127	38913128	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C			TCGA-12-0619-01	TCGA-12-0619-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302328.3:c.3567dupG	p.Leu1190AlafsTer20	p.L1190Afs*20	ENST00000302328	NM_014139.2	1189	-/G	0			1			C	-/X	uc011ays.1	protein_coding	YES	CCDS33737.1			3567-3568/5376									skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9	c.(3565-3570)TGGCTCfs			Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF22,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix	sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)			ENSP00000307599		21/26										21/26	.		ENST00000302328	Transcript	1		response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	ENSG00000168356	g.chr3:38913127_38913128insC	10583			HIGH								--	--	1																																				1			p.W1189fs	NM_014139	NP_054858				SCNBA_HUMAN	SCN11A	HGNC	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)			21	3766_3767	-			UPI000006CCD7	1189_1190			Helical; Name=S5 of repeat III; (By similarity).|III.		insertion	SCN11A,frameshift_variant,p.Leu1190AlafsTer20,ENST00000450244,NM_001287223.1;SCN11A,frameshift_variant,p.Leu1190AlafsTer20,ENST00000302328,NM_014139.2,NM_001287223.1;SCN11A,frameshift_variant,p.Leu1190AlafsTer20,ENST00000444237,;SCN11A,frameshift_variant,p.Leu1152AlafsTer20,ENST00000456224,;	uc011ays.1	c.3567_3568insG	3766-3767/6500	5	5			c.3567_3568insG						3	INS	c.(3565-3570)TGGCTCfs	43	43			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9	Broad	sodium channel, voltage-gated, type XI, alpha		Cocaine(DB00907)	38913128		0.361	ENSG00000168356	13694	g.chr3:38913127_38913128insC	response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity																				0.23	1	0	0	1	1	0	0	0	0	--	--		0	C				120	GBM-12-0619-TP	p.W1189fs	-	CAAAATACGAGCCAGAAAATGA	NM_014139	NP_054858	38913127	Q9UI33	SCNBA_HUMAN	0		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	21	3766_3767	-	C	C			Frame_Shift_Ins	1189_1190			Helical; Name=S5 of repeat III; (By similarity).|III.			
SCN11A	0	broad.mit.edu	GRCh37	3	38892224	38892224	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5214-01	TCGA-28-5214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302328.3:c.4075G>A	p.Val1359Met	p.V1359M	ENST00000302328	NM_014139.2	1359	Gtg/Atg	0			1			T	V/M	uc011ays.1	protein_coding	YES	CCDS33737.1			4075/5376									skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9	c.(4075-4077)GTG>ATG			hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF22,Transmembrane_helices:TMhelix	sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)			ENSP00000307599		25/26	3.29E-05					4.51E-05		6.11E-05	rs777323474,COSM3408650	25/26	.		ENST00000302328	Transcript	1		response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	ENSG00000168356	g.chr3:38892224C>T	10583			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=SCNBA_HUMAN&rb=1308&re=1399&var=V1359M	NA	getma.org/?cm=var&var=hg19,3,38892224,C,T&fts=all	V1359M	--	--	1																																		SCN11A_uc003cis.1_Missense_Mutation_p.V24M	0,1	1		benign(0.26)	p.V1359M	NM_014139	NP_054858		deleterious(0.04)	0,1	SCNBA_HUMAN	SCN11A	HGNC	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)			25	4274	-			UPI000006CCD7	1359					SNV	SCN11A,missense_variant,p.Val1359Met,ENST00000450244,NM_001287223.1;SCN11A,missense_variant,p.Val1359Met,ENST00000302328,NM_014139.2,NM_001287223.1;SCN11A,missense_variant,p.Val1359Met,ENST00000444237,;SCN11A,missense_variant,p.Val1321Met,ENST00000456224,;	uc011ays.1	c.4075G>A	4274/6500	1	1			c.4075G>A						3	SNP	c.(4075-4077)GTG>ATG	2	2			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9	Broad	sodium channel, voltage-gated, type XI, alpha		Cocaine(DB00907)	38892224		0.308	ENSG00000168356	13694	g.chr3:38892224C>T	response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity							123.796535	KEEP	25	22	-1	51	54	25	22	-1	128.376142	51	54	0.312925	1	0	0	0	0	1	0	0	0	--	--		0	T			SCN11A_uc003cis.1_Missense_Mutation_p.V24M	221	GBM-28-5214-TP	p.V1359M	C	ATGTCGAACACGAGACCTTGA	NM_014139	NP_054858	38892224	Q9UI33	SCNBA_HUMAN	0		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	25	4274	-	T	T			Missense_Mutation	1359						
SCN1A	6323	broad.mit.edu	GRCh37	2	166850847	166850847	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0122-01	TCGA-06-0122-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303395.4:c.4661A>G	p.Asn1554Ser	p.N1554S	ENST00000303395		1554	aAc/aGc	0			1			C	N/S	uc010zcz.1	protein_coding	YES	CCDS54413.1			4661/6030									ovary(6)|skin(6)|large_intestine(1)	13	c.(4627-4629)AAC>AGC			Gene3D:1.20.120.350,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF133,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix	sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)			ENSP00000303540		25/26									COSM2149201,COSM2149200,COSM3406993	25/26	.		ENST00000303395	Transcript	1			voltage-gated sodium channel complex	voltage-gated sodium channel activity	ENSG00000144285	g.chr2:166850847T>C	10585			MODERATE		4.225	high	getma.org/?cm=msa&ty=f&p=SCN1A_HUMAN&rb=1483&re=1574&var=N1554S	NA	getma.org/?cm=var&var=hg19,2,166850847,T,C&fts=all	N1554S	--	--	1																																			1,1,1	1		probably_damaging(0.998)	p.N1543S	NM_006920	NP_008851		deleterious(0.01)	1,1,1	SCN1A_HUMAN	SCN1A	HGNC	P35498	SCN1A_HUMAN			F8T7W7_HUMAN		25	4646	-			UPI000003C71D	1554			Helical; Name=S1 of repeat IV; (By similarity).|IV.		SNV	SCN1A,missense_variant,p.Asn1554Ser,ENST00000423058,NM_001165963.1,NM_001202435.1;SCN1A,missense_variant,p.Asn1554Ser,ENST00000303395,;SCN1A,missense_variant,p.Asn1543Ser,ENST00000375405,NM_001165964.1,NM_006920.4;SCN1A,missense_variant,p.Asn1526Ser,ENST00000409050,;AC010127.3,intron_variant,,ENST00000595647,;AC010127.3,intron_variant,,ENST00000597623,;SCN1A,downstream_gene_variant,,ENST00000473295,;SCN1A,downstream_gene_variant,,ENST00000491429,;	uc010zcz.1	c.4628A>G	4661/8112	3	3			c.4628A>G						2	SNP	c.(4627-4629)AAC>AGC	55	55			ovary(6)|skin(6)|large_intestine(1)	13	Broad	sodium channel, voltage-gated, type I, alpha		Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	166850847		0.378	ENSG00000144285	13695	g.chr2:166850847T>C		voltage-gated sodium channel complex	voltage-gated sodium channel activity							75.399676	KEEP	14	10	-1	28	27	14	10	-1	77.897584	28	27	0.306667	1	0	0	0	0	1	0	0	0	--	--		0	C				10	GBM-06-0122-TP	p.N1543S	T	TGTGACCATGTTAAGACAGAT	NM_006920	NP_008851	166850847	P35498	SCN1A_HUMAN	0			25	4646	-	C	C			Missense_Mutation	1554			Helical; Name=S1 of repeat IV; (By similarity).|IV.			
SCN1A	6323	broad.mit.edu	GRCh37	2	166847871	166847871	+	stop_gained	Nonsense_Mutation	SNP	T	T	A			TCGA-06-0879-01	TCGA-06-0879-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303395.4:c.5914A>T	p.Lys1972Ter	p.K1972*	ENST00000303395		1972	Aaa/Taa	0			1			A	K/*	uc010zcz.1	protein_coding	YES	CCDS54413.1			5914/6030									ovary(6)|skin(6)|large_intestine(1)	13	c.(5881-5883)AAA>TAA			Prints_domain:PR01664,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF133	sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)			ENSP00000303540		26/26									COSM2152288,COSM2152287,COSM3406991	26/26	.		ENST00000303395	Transcript	1			voltage-gated sodium channel complex	voltage-gated sodium channel activity	ENSG00000144285	g.chr2:166847871T>A	10585			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,166847871,T,A&fts=all	K1972*	--	--	1																																			1,1,1	1			p.K1961*	NM_006920	NP_008851			1,1,1	SCN1A_HUMAN	SCN1A	HGNC	P35498	SCN1A_HUMAN			F8T7W7_HUMAN		26	5899	-			UPI000003C71D	1972					SNV	SCN1A,stop_gained,p.Lys1972Ter,ENST00000423058,NM_001165963.1,NM_001202435.1;SCN1A,stop_gained,p.Lys1972Ter,ENST00000303395,;SCN1A,stop_gained,p.Lys1961Ter,ENST00000375405,NM_001165964.1,NM_006920.4;SCN1A,stop_gained,p.Lys1944Ter,ENST00000409050,;AC010127.3,intron_variant,,ENST00000595647,;AC010127.3,intron_variant,,ENST00000597623,;SCN1A,downstream_gene_variant,,ENST00000473295,;	uc010zcz.1	c.5881A>T	5914/8112	5	1			c.5881A>T						2	SNP	c.(5881-5883)AAA>TAA	51	51			ovary(6)|skin(6)|large_intestine(1)	13	Broad	sodium channel, voltage-gated, type I, alpha		Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	166847871		0.363	ENSG00000144285	13695	g.chr2:166847871T>A		voltage-gated sodium channel complex	voltage-gated sodium channel activity							122.532674	KEEP	24	29	-1	54	43	24	29	-1	125.646354	54	43	0.342857	1	0	0	0	0	0	1	0	0	--	--		0	A				75	GBM-06-0879-TP	p.K1961*	T	AGATCAGTTTTTTCTGTAATA	NM_006920	NP_008851	166847871	P35498	SCN1A_HUMAN	0			26	5899	-	A	A			Nonsense_Mutation	1972						
SCN1B	6324		GRCh37	19	35523525	35523525	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000415950.3:c.134G>A	p.Arg45His	p.R45H	ENST00000415950	NM_199037.3	45	cGc/cAc	0																																																																																																																																																																																																																																												
SCN2A	0	broad.mit.edu	GRCh37	2	166179852	166179852	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2518-01	TCGA-27-2518-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283256.6:c.1858C>T	p.Arg620Trp	p.R620W	ENST00000283256	NM_021007.2	620	Cgg/Tgg	0			1			T	R/W	uc002udc.2	protein_coding		CCDS33314.1			1858/6018									ovary(6)|breast(1)|pancreas(1)	8	c.(1858-1860)CGG>TGG			Pfam_domain:PF11933,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF133	sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)			ENSP00000283256		27-Dec	8.24E-06				0.000152				rs762680220,COSM3406987,COSM3406986	27-Dec	.		ENST00000283256	Transcript	1		myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	ENSG00000136531	g.chr2:166179852C>T	10588			MODERATE		3.235	medium	getma.org/?cm=msa&ty=f&p=SCN2A_HUMAN&rb=488&re=710&var=R620W	NA	getma.org/?cm=var&var=hg19,2,166179852,C,T&fts=all	R620W	--	--	1																																		SCN2A_uc002udd.2_Missense_Mutation_p.R620W|SCN2A_uc002ude.2_Missense_Mutation_p.R620W	0,1,1			probably_damaging(1)	p.R620W	NM_001040142	NP_001035232		deleterious(0.01)	0,1,1	SCN2A_HUMAN	SCN2A	HGNC	Q99250	SCN2A_HUMAN			F8T7W7_HUMAN,A8K0U1_HUMAN		12	2148	+			UPI00001279C9	620					SNV	SCN2A,missense_variant,p.Arg620Trp,ENST00000357398,;SCN2A,missense_variant,p.Arg620Trp,ENST00000375437,NM_001040142.1;SCN2A,missense_variant,p.Arg620Trp,ENST00000283256,NM_021007.2;SCN2A,missense_variant,p.Arg620Trp,ENST00000375427,NM_001040143.1;SCN2A,non_coding_transcript_exon_variant,,ENST00000480032,;	uc002udc.2	c.1858C>T	2014/8403	1	1			c.1858C>T						2	SNP	c.(1858-1860)CGG>TGG	3	3			ovary(6)|breast(1)|pancreas(1)	8	Broad	sodium channel, voltage-gated, type II, alpha		Lamotrigine(DB00555)	166179852		0.562	ENSG00000136531	13697	g.chr2:166179852C>T	myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity							2.271569	KEEP	3	1	-1	22	19	3	1	-1	8.411323	22	19	0.102564	1	0	0	0	0	1	0	0	0	--	--		0	T			SCN2A_uc002udd.2_Missense_Mutation_p.R620W|SCN2A_uc002ude.2_Missense_Mutation_p.R620W	198	GBM-27-2518-TP	p.R620W	C	ACATGGAGAACGGCGCCACAG	NM_001040142	NP_001035232	166179852	Q99250	SCN2A_HUMAN	0			12	2148	+	T	T			Missense_Mutation	620						
SCN2B	0	broad.mit.edu	GRCh37	11	118037799	118037799	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-5958-01	TCGA-19-5958-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278947.5:c.451C>A	p.Pro151Thr	p.P151T	ENST00000278947	NM_004588.4	151	Ccc/Acc	0			1			T	P/T	uc001psf.2	protein_coding	YES	CCDS8390.1			451/648										0	c.(451-453)CCC>ACC			hmmpanther:PTHR13869,hmmpanther:PTHR13869:SF3	sodium channel, voltage-gated, type II, beta				ENSP00000278947		4-Apr									COSM2156823	4-Apr	.		ENST00000278947	Transcript	1		synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity	ENSG00000149575	g.chr11:118037799G>T	10589			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=SCN2B_HUMAN&rb=32&re=154&var=P151T	getma.org/pdb.php?prot=SCN2B_HUMAN&from=32&to=154&var=P151T	getma.org/?cm=var&var=hg19,11,118037799,G,T&fts=all	P151T	--	--	1																																			1	1		benign(0.417)	p.P151T	NM_004588	NP_004579		tolerated(0.16)	1	SCN2B_HUMAN	SCN2B	HGNC	O60939	SCN2B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	Q5U0K8_HUMAN		4	642	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	UPI000000165E	151			Ig-like C2-type.|Extracellular (Potential).		SNV	SCN2B,missense_variant,p.Pro151Thr,ENST00000278947,NM_004588.4;	uc001psf.2	c.451C>A	693/5826	2	2			c.451C>A						11	SNP	c.(451-453)CCC>ACC	47	47				0	Broad	sodium channel, voltage-gated, type II, beta			118037799		0.627	ENSG00000149575	13698	g.chr11:118037799G>T	synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity							47.558102	KEEP	6	11	0.352941176	10	18	6	11	0.352941176	47.972423	10	18	0.395349	1	0	0	0	0	1	0	0	0	--	--		0	T				176	GBM-19-5958-TP	p.P151T	G	CGCTCAGGGGGCTCTGGAAAG	NM_004588	NP_004579	118037799	O60939	SCN2B_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	4	642	-	T	T	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	Missense_Mutation	151			Ig-like C2-type.|Extracellular (Potential).			
SCN3A	6328	broad.mit.edu	GRCh37	2	166019327	166019327	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-02-2485-01	TCGA-02-2485-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283254.7:c.706A>G	p.Ile236Val	p.I236V	ENST00000283254	NM_001081676.1	236	Att/Gtt	0			1			C	I/V	uc002ucx.2	protein_coding					706/6003									ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10	c.(706-708)ATT>GTT			Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF200,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix	sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)			ENSP00000353206		28-Aug									COSM3406984,COSM3406985	28-Aug	.		ENST00000360093	Transcript				voltage-gated sodium channel complex	voltage-gated sodium channel activity	ENSG00000153253	g.chr2:166019327T>C	10590			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=SCN3A_HUMAN&rb=156&re=423&var=I236V	getma.org/pdb.php?prot=SCN3A_HUMAN&from=156&to=423&var=I236V	getma.org/?cm=var&var=hg19,2,166019327,T,C&fts=all	I236V	--	--	1																																		SCN3A_uc002ucy.2_Missense_Mutation_p.I236V|SCN3A_uc002ucz.2_Missense_Mutation_p.I236V|SCN3A_uc002uda.1_Missense_Mutation_p.I105V|SCN3A_uc002udb.1_Missense_Mutation_p.I105V	1,1			possibly_damaging(0.833)	p.I236V	NM_006922	NP_008853		tolerated(0.06)	1,1	SCN3A_HUMAN	SCN3A	HGNC	Q9NY46	SCN3A_HUMAN			Q9GZM4_HUMAN,F5H4V8_HUMAN,C9JBM7_HUMAN		8	1198	-			UPI00001279CC	236					SNV	SCN3A,missense_variant,p.Ile236Val,ENST00000360093,NM_001081677.1;SCN3A,missense_variant,p.Ile236Val,ENST00000283254,NM_001081676.1,NM_006922.3;SCN3A,missense_variant,p.Ile236Val,ENST00000409101,;SCN3A,missense_variant,p.Ile236Val,ENST00000440431,;SCN3A,downstream_gene_variant,,ENST00000453007,;	uc002ucx.2	c.706A>G	1198/9123	3	3			c.706A>G						2	SNP	c.(706-708)ATT>GTT	2	2			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10	Broad	sodium channel, voltage-gated, type III, alpha		Lamotrigine(DB00555)	166019327		0.453	ENSG00000153253	13699	g.chr2:166019327T>C		voltage-gated sodium channel complex	voltage-gated sodium channel activity							262.833464	KEEP	40	53	-1	47	69	40	53	-1	263.14264	47	69	0.455556	1	0	0	0	0	1	0	0	0	--	--		0	C			SCN3A_uc002ucy.2_Missense_Mutation_p.I236V|SCN3A_uc002ucz.2_Missense_Mutation_p.I236V|SCN3A_uc002uda.1_Missense_Mutation_p.I105V|SCN3A_uc002udb.1_Missense_Mutation_p.I105V	7	GBM-02-2485-TP	p.I236V	T	GCCCCCACAATGGTCTTTAAA	NM_006922	NP_008853	166019327	Q9NY46	SCN3A_HUMAN	0			8	1198	-	C	C			Missense_Mutation	236						
SCN3A	6328	broad.mit.edu	GRCh37	2	165997260	165997260	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-5413-01	TCGA-06-5413-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283254.7:c.1920A>G	p.Ala640=	p.A640=	ENST00000283254	NM_001081676.1	640	gcA/gcG	0			1			C	A	uc002ucx.2	protein_coding					1920/6003									ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10	c.(1918-1920)GCA>GCG			Pfam_domain:PF11933,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF200	sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)			ENSP00000353206		13/28									COSM2153176	13/28	.		ENST00000360093	Transcript				voltage-gated sodium channel complex	voltage-gated sodium channel activity	ENSG00000153253	g.chr2:165997260T>C	10590			LOW								--	--	1																																		SCN3A_uc002ucy.2_Intron|SCN3A_uc002ucz.2_Intron|SCN3A_uc002uda.1_Intron|SCN3A_uc002udb.1_Intron	1				p.A640A	NM_006922	NP_008853			1	SCN3A_HUMAN	SCN3A	HGNC	Q9NY46	SCN3A_HUMAN			Q9GZM4_HUMAN,F5H4V8_HUMAN,C9JBM7_HUMAN		13	2412	-			UPI00001279CC	640					SNV	SCN3A,synonymous_variant,p.=,ENST00000360093,NM_001081677.1;SCN3A,synonymous_variant,p.=,ENST00000283254,NM_001081676.1,NM_006922.3;SCN3A,intron_variant,,ENST00000409101,;SCN3A,intron_variant,,ENST00000440431,;	uc002ucx.2	c.1920A>G	2412/9123	3	3			c.1920A>G						2	SNP	c.(1918-1920)GCA>GCG	52	52			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10	Broad	sodium channel, voltage-gated, type III, alpha		Lamotrigine(DB00555)	165997260		0.542	ENSG00000153253	13699	g.chr2:165997260T>C		voltage-gated sodium channel complex	voltage-gated sodium channel activity							34.316758	KEEP	10	4	-1	12	10	10	4	-1	35.006148	12	10	0.34375	1	0	0	0	0	0	0	1	0	--	--		0	C			SCN3A_uc002ucy.2_Intron|SCN3A_uc002ucz.2_Intron|SCN3A_uc002uda.1_Intron|SCN3A_uc002udb.1_Intron	96	GBM-06-5413-TP	p.A640A	T	TCTTCCCATTTGCTGGAAGCC	NM_006922	NP_008853	165997260	Q9NY46	SCN3A_HUMAN	0			13	2412	-	C	C			Silent	640						
SCN3A	0	broad.mit.edu	GRCh37	2	165996030	165996030	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-41-2575-01	TCGA-41-2575-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360093.3:c.2108A>G	p.Gln703Arg	p.Q703R	ENST00000360093	NM_001081677.1	703	cAa/cGa	0			1			C	Q/R	uc002ucx.2	protein_coding					2108/6003									ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10	c.(2107-2109)CAA>CGA			Pfam_domain:PF11933,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF200	sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)			ENSP00000353206		14/28									COSM3312134,COSM3312135	14/28	.		ENST00000360093	Transcript				voltage-gated sodium channel complex	voltage-gated sodium channel activity	ENSG00000153253	g.chr2:165996030T>C	10590			MODERATE		2.655	medium	getma.org/?cm=msa&ty=f&p=SCN3A_HUMAN&rb=486&re=711&var=Q703R	NA	getma.org/?cm=var&var=hg19,2,165996030,T,C&fts=all	Q703R	--	--	1																																		SCN3A_uc002ucy.2_Missense_Mutation_p.Q654R|SCN3A_uc002ucz.2_Missense_Mutation_p.Q654R|SCN3A_uc002uda.1_Missense_Mutation_p.Q523R|SCN3A_uc002udb.1_Missense_Mutation_p.Q523R	1,1			benign(0.382)	p.Q703R	NM_006922	NP_008853		tolerated(0.11)	1,1	SCN3A_HUMAN	SCN3A	HGNC	Q9NY46	SCN3A_HUMAN			Q9GZM4_HUMAN,F5H4V8_HUMAN,C9JBM7_HUMAN		14	2600	-			UPI00001279CC	703					SNV	SCN3A,missense_variant,p.Gln703Arg,ENST00000360093,NM_001081677.1;SCN3A,missense_variant,p.Gln703Arg,ENST00000283254,NM_001081676.1,NM_006922.3;SCN3A,missense_variant,p.Gln654Arg,ENST00000409101,;SCN3A,missense_variant,p.Gln654Arg,ENST00000440431,;	uc002ucx.2	c.2108A>G	2600/9123	3	3			c.2108A>G						2	SNP	c.(2107-2109)CAA>CGA	7	7			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10	Broad	sodium channel, voltage-gated, type III, alpha		Lamotrigine(DB00555)	165996030		0.463	ENSG00000153253	13699	g.chr2:165996030T>C		voltage-gated sodium channel complex	voltage-gated sodium channel activity							129.838372	KEEP	23	23	-1	40	25	23	23	-1	130.564669	40	25	0.412844	1	0	0	0	0	1	0	0	0	--	--		0	C			SCN3A_uc002ucy.2_Missense_Mutation_p.Q654R|SCN3A_uc002ucz.2_Missense_Mutation_p.Q654R|SCN3A_uc002uda.1_Missense_Mutation_p.Q523R|SCN3A_uc002udb.1_Missense_Mutation_p.Q523R	253	GBM-41-2575-TP	p.Q703R	T	CACGGCTCTTTGCCTTCCAGA	NM_006922	NP_008853	165996030	Q9NY46	SCN3A_HUMAN	0			14	2600	-	C	C			Missense_Mutation	703						
SCN3A	6328		GRCh37	2	165952115	165952115	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000283254.7:c.4337T>C	p.Leu1446Ser	p.L1446S	ENST00000283254	NM_001081676.1	1446	tTa/tCa	0																																																																																																																																																																																																																																												
SCN3B	55800	broad.mit.edu	GRCh37	11	123513193	123513193	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-5856-01	TCGA-06-5856-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392770.2:c.406A>G	p.Lys136Glu	p.K136E	ENST00000392770	NM_018400.3	136	Aag/Gag	0			1			C	K/E	uc001pza.1	protein_coding		CCDS8442.1			406/648									large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6	c.(406-408)AAG>GAG			Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR10546,hmmpanther:PTHR10546:SF1,SMART_domains:SM00409	voltage-gated sodium channel beta-3 subunit				ENSP00000299333		7-Apr									COSM3397499	7-Apr	.		ENST00000299333	Transcript	1		axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	ENSG00000166257	g.chr11:123513193T>C	20665			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=SCN3B_HUMAN&rb=22&re=142&var=K136E	getma.org/pdb.php?prot=SCN3B_HUMAN&from=22&to=142&var=K136E	getma.org/?cm=var&var=hg19,11,123513193,T,C&fts=all	K136E	--	--	1																																		SCN3B_uc001pzb.1_Missense_Mutation_p.K136E	1			benign(0.003)	p.K136E	NM_001040151	NP_001035241		tolerated(0.93)	1	SCN3B_HUMAN	SCN3B	HGNC	Q9NY72	SCN3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	E9PQS8_HUMAN,E9PJP6_HUMAN		4	813	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	UPI00000341C8	136			Ig-like C2-type.|Extracellular (Potential).		SNV	SCN3B,missense_variant,p.Lys136Glu,ENST00000392770,NM_018400.3;SCN3B,missense_variant,p.Lys136Glu,ENST00000299333,NM_001040151.1;SCN3B,missense_variant,p.Lys136Glu,ENST00000530277,;SCN3B,missense_variant,p.Lys136Glu,ENST00000527836,;SCN3B,downstream_gene_variant,,ENST00000528267,;SCN3B,upstream_gene_variant,,ENST00000527125,;	uc001pza.1	c.406A>G	813/5665	4	4			c.406A>G						11	SNP	c.(406-408)AAG>GAG	36	36			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6	Broad	voltage-gated sodium channel beta-3 subunit			123513193		0.592	ENSG00000166257	13700	g.chr11:123513193T>C	axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity							167.871836	KEEP	21	26	-1	10	17	21	26	-1	169.399299	10	17	0.657143	1	0	0	0	0	1	0	0	0	--	--		0	C			SCN3B_uc001pzb.1_Missense_Mutation_p.K136E	101	GBM-06-5856-TP	p.K136E	T	CGCGTCGTCTTCACAAAGGGC	NM_001040151	NP_001035241	123513193	Q9NY72	SCN3B_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	4	813	-	C	C		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	Missense_Mutation	136			Ig-like C2-type.|Extracellular (Potential).			
SCN4A	0	broad.mit.edu	GRCh37	17	62036660	62036660	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01	TCGA-27-1835-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000435607.1:c.1984G>A	p.Val662Ile	p.V662I	ENST00000435607	NM_000334.4	662	Gta/Ata	0			1			T	V/I	uc002jds.1	protein_coding	YES	CCDS45761.1			1984/5511									ovary(1)|pancreas(1)|skin(1)	3	c.(1984-1986)GTA>ATA			Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF193,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)			ENSP00000396320		24-Dec	2.48E-05					4.50E-05			rs766975288,COSM3403118	24-Dec	.		ENST00000435607	Transcript	1		muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	ENSG00000007314	g.chr17:62036660C>T	10591			MODERATE		1.28	low	getma.org/?cm=msa&ty=f&p=SCN4A_HUMAN&rb=612&re=801&var=V662I	getma.org/pdb.php?prot=SCN4A_HUMAN&from=612&to=801&var=V662I	getma.org/?cm=var&var=hg19,17,62036660,C,T&fts=all	V662I	--	--	1																																			0,1	1		possibly_damaging(0.884)	p.V662I	NM_000334	NP_000325		deleterious(0.04)	0,1	SCN4A_HUMAN	SCN4A	HGNC	P35499	SCN4A_HUMAN			Q9H3L9_HUMAN		12	2061	-			UPI0000201254	662			II.		SNV	SCN4A,missense_variant,p.Val662Ile,ENST00000578147,;SCN4A,missense_variant,p.Val662Ile,ENST00000435607,NM_000334.4;SCN4A,downstream_gene_variant,,ENST00000581514,;	uc002jds.1	c.1984G>A	2061/7805	2	2			c.1984G>A						17	SNP	c.(1984-1986)GTA>ATA	29	29			ovary(1)|pancreas(1)|skin(1)	3	Broad	voltage-gated sodium channel type 4 alpha		Lamotrigine(DB00555)	62036660		0.592	ENSG00000007314	13701	g.chr17:62036660C>T	muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity							128.370838	KEEP	26	32	-1	38	44	26	32	-1	129.109015	38	44	0.411215	1	0	0	0	0	1	0	0	0	--	--		0	T				194	GBM-27-1835-TP	p.V662I	C	AGTCCCTGTACGTTGGCCAGG	NM_000334	NP_000325	62036660	P35499	SCN4A_HUMAN	0			12	2061	-	T	T			Missense_Mutation	662			II.			
SCN4A	0	broad.mit.edu	GRCh37	17	62019282	62019282	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01	TCGA-32-4719-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000435607.1:c.4360C>T	p.Arg1454Trp	p.R1454W	ENST00000435607	NM_000334.4	1454	Cgg/Tgg	0			1			A	R/W	uc002jds.1	protein_coding	YES	CCDS45761.1			4360/5511									ovary(1)|pancreas(1)|skin(1)	3	c.(4360-4362)CGG>TGG			hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF193,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)			ENSP00000396320		24/24									COSM3403115	24/24	.		ENST00000435607	Transcript	1		muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	ENSG00000007314	g.chr17:62019282G>A	10591			MODERATE		4.805	high	getma.org/?cm=msa&ty=f&p=SCN4A_HUMAN&rb=1387&re=1597&var=R1454W	getma.org/pdb.php?prot=SCN4A_HUMAN&from=1387&to=1597&var=R1454W	getma.org/?cm=var&var=hg19,17,62019282,G,A&fts=all	R1454W	--	--	1																																			1	1		probably_damaging(0.994)	p.R1454W	NM_000334	NP_000325		deleterious(0)	1	SCN4A_HUMAN	SCN4A	HGNC	P35499	SCN4A_HUMAN			Q9H3L9_HUMAN		24	4437	-			UPI0000201254	1454			Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).|IV.		SNV	SCN4A,missense_variant,p.Arg1454Trp,ENST00000578147,;SCN4A,missense_variant,p.Arg1454Trp,ENST00000435607,NM_000334.4;	uc002jds.1	c.4360C>T	4437/7805	1	1			c.4360C>T						17	SNP	c.(4360-4362)CGG>TGG	63	63			ovary(1)|pancreas(1)|skin(1)	3	Broad	voltage-gated sodium channel type 4 alpha		Lamotrigine(DB00555)	62019282		0.642	ENSG00000007314	13701	g.chr17:62019282G>A	muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity							45.462057	KEEP	11	8	-1	20	14	11	8	-1	45.875285	20	14	0.395349	1	0	0	0	0	1	0	0	0	--	--		0	A				248	GBM-32-4719-TP	p.R1454W	G	CGCCCAATCCGCGCCAGGCGG	NM_000334	NP_000325	62019282	P35499	SCN4A_HUMAN	0			24	4437	-	A	A			Missense_Mutation	1454			Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).|IV.			
SCN4B	0	broad.mit.edu	GRCh37	11	118014756	118014756	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4926-01	TCGA-76-4926-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324727.4:c.255G>A	p.Lys85=	p.K85=	ENST00000324727	NM_174934.3	85	aaG/aaA	0			1			T	K	uc001pse.2	protein_coding	YES	CCDS8389.1			255/687									skin(1)	1	c.(253-255)AAG>AAA			PROSITE_profiles:PS50835,hmmpanther:PTHR13869:SF14,hmmpanther:PTHR13869,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726	sodium channel, voltage-gated, type IV, beta				ENSP00000322460		5-Mar									COSM3397441	5-Mar	.		ENST00000324727	Transcript	1			voltage-gated sodium channel complex	voltage-gated sodium channel activity	ENSG00000177098	g.chr11:118014756C>T	10592			LOW								--	--	1																																		SCN4B_uc010rxu.1_5'UTR|SCN4B_uc010rxv.1_Intron	1	1			p.K85K	NM_174934	NP_777594			1	SCN4B_HUMAN	SCN4B	HGNC	Q8IWT1	SCN4B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)	B0YJ93_HUMAN		3	497	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	UPI00000532AE	85			Ig-like C2-type.|Extracellular (Potential).		SNV	SCN4B,synonymous_variant,p.=,ENST00000324727,NM_174934.3,NM_001142349.1;SCN4B,intron_variant,,ENST00000529878,NM_001142348.1;SCN4B,upstream_gene_variant,,ENST00000423160,;SCN4B,non_coding_transcript_exon_variant,,ENST00000415030,;SCN4B,non_coding_transcript_exon_variant,,ENST00000532138,;SCN4B,upstream_gene_variant,,ENST00000531550,;	uc001pse.2	c.255G>A	402/4484	1	1			c.255G>A						11	SNP	c.(253-255)AAG>AAA	15	15			skin(1)	1	Broad	sodium channel, voltage-gated, type IV, beta			118014756		0.507	ENSG00000177098	13702	g.chr11:118014756C>T		voltage-gated sodium channel complex	voltage-gated sodium channel activity							223.136344	KEEP	54	42	-1	129	117	54	42	-1	237.130436	129	117	0.271812	1	0	0	0	0	0	0	1	0	--	--		0	T			SCN4B_uc010rxu.1_5'UTR|SCN4B_uc010rxv.1_Intron	266	GBM-76-4926-TP	p.K85K	C	ACTTCTCATTCTTCACAGTCC	NM_174934	NP_777594	118014756	Q8IWT1	SCN4B_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)	3	497	-	T	T	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	Silent	85			Ig-like C2-type.|Extracellular (Potential).			
SCN5A	6331	broad.mit.edu	GRCh37	3	38592883	38592883	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000413689.1:c.4980C>T	p.Ile1660=	p.I1660=	ENST00000413689	NM_001160160.1	1660	atC/atT	0			1			A	I	uc003cio.2	protein_coding		CCDS46796.1			4980/6051									ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	c.(4978-4980)ATC>ATT			Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF178,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix	voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)			ENSP00000328968		28/28	1.65E-05		0.000173						rs752079563,COSM277177,COSM1593701,COSM1593702	28/28	.		ENST00000333535	Transcript	1		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	ENSG00000183873	g.chr3:38592883G>A	10593			LOW								--	--	1																																		SCN5A_uc003cin.2_Silent_p.I1659I|SCN5A_uc003cil.3_Silent_p.I1660I|SCN5A_uc010hhi.2_Silent_p.I1642I|SCN5A_uc010hhk.2_Silent_p.I1627I|SCN5A_uc011ayr.1_Silent_p.I1606I	0,1,1,1				p.I1660I	NM_198056	NP_932173			0,1,1,1	SCN5A_HUMAN	SCN5A	HGNC	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Q8WWN5_HUMAN,Q8WTQ6_HUMAN,A3EY21_HUMAN,A3EY20_HUMAN		28	5174	-	Medulloblastoma(35;0.163)		UPI00001D6F27	1660		I -> V (in BRS1; detected in a compound heterozygote also carrying L-336; the presence of both mutations is necessary for the phenotypic expression of the disease; complete loss of sodium currents due to defective channel trafficking to the plasma membrane).	Helical; Name=S5 of repeat IV; (Potential).		SNV	SCN5A,synonymous_variant,p.=,ENST00000413689,NM_001160160.1,NM_001099404.1;SCN5A,synonymous_variant,p.=,ENST00000443581,NM_000335.4,NM_198056.2;SCN5A,synonymous_variant,p.=,ENST00000333535,;SCN5A,synonymous_variant,p.=,ENST00000425664,NM_001099405.1;SCN5A,synonymous_variant,p.=,ENST00000423572,;SCN5A,synonymous_variant,p.=,ENST00000451551,NM_001160161.1;SCN5A,synonymous_variant,p.=,ENST00000414099,;SCN5A,synonymous_variant,p.=,ENST00000455624,;SCN5A,synonymous_variant,p.=,ENST00000450102,;SCN5A,synonymous_variant,p.=,ENST00000449557,;SCN5A,downstream_gene_variant,,ENST00000464652,;	uc003cio.2	c.4980C>T	5130/8456	2	2			c.4980C>T						3	SNP	c.(4978-4980)ATC>ATT	22	22			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Broad	voltage-gated sodium channel type V alpha		Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	38592883		0.567	ENSG00000183873	13703	g.chr3:38592883G>A	blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity							119.699246	KEEP	21	26	-1	64	66	21	26	-1	127.383614	64	66	0.272727	1	0	0	0	0	0	0	1	0	--	--		0	A			SCN5A_uc003cin.2_Silent_p.I1659I|SCN5A_uc003cil.3_Silent_p.I1660I|SCN5A_uc010hhi.2_Silent_p.I1642I|SCN5A_uc010hhk.2_Silent_p.I1627I|SCN5A_uc011ayr.1_Silent_p.I1606I	18	GBM-06-0137-TP	p.I1660I	G	GCAGCAGCCCGATGTTGAAGA	NM_198056	NP_932173	38592883	Q14524	SCN5A_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	5174	-	A	A	Medulloblastoma(35;0.163)		Silent	1660		I -> V (in BRS1; detected in a compound heterozygote also carrying L-336; the presence of both mutations is necessary for the phenotypic expression of the disease; complete loss of sodium currents due to defective channel trafficking to the plasma membrane).	Helical; Name=S5 of repeat IV; (Potential).			
SCN5A	6331	broad.mit.edu	GRCh37	3	38639416	38639416	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01	TCGA-06-2565-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000413689.1:c.2066G>A	p.Arg689His	p.R689H	ENST00000413689	NM_001160160.1	689	cGt/cAt	0	T:0	T:0	1	T:0		T	R/H	uc003cio.2	protein_coding		CCDS46796.1			2066/6051						uncertain_significance			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	c.(2065-2067)CGT>CAT			hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF178	voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	T:0	T:0.0001	ENSP00000328968	T:0	14/28	0.000116	0.000306		0.000232		1.50E-05	0.00112	0.000434	rs199473145,COSM2986674,COSM2986673,COSM2986672	14/28	common_variant		ENST00000333535	Transcript	1	T:0.0002	blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	ENSG00000183873	g.chr3:38639416C>T	10593			MODERATE		1.24	low	getma.org/?cm=msa&ty=f&p=SCN5A_HUMAN&rb=669&re=750&var=R689H	NA	getma.org/?cm=var&var=hg19,3,38639416,C,T&fts=all	R689H	--	--	1																																		SCN5A_uc003cin.2_Missense_Mutation_p.R689H|SCN5A_uc003cil.3_Missense_Mutation_p.R689H|SCN5A_uc010hhi.2_Missense_Mutation_p.R689H|SCN5A_uc010hhk.2_Missense_Mutation_p.R689H|SCN5A_uc011ayr.1_Missense_Mutation_p.R689H|SCN5A_uc010hhj.1_Missense_Mutation_p.R300H	1,1,1,1		1,984,130,020,129,280,000,000,000,000,000,000,000,000	benign(0)	p.R689H	NM_198056	NP_932173	T:0.001	tolerated(0.18)	0,1,1,1	SCN5A_HUMAN	SCN5A	HGNC	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Q8WWN5_HUMAN,Q8WTQ6_HUMAN,A3EY21_HUMAN,A3EY20_HUMAN		14	2260	-	Medulloblastoma(35;0.163)		UPI00001D6F27	689					SNV	SCN5A,missense_variant,p.Arg689His,ENST00000413689,NM_001160160.1,NM_001099404.1;SCN5A,missense_variant,p.Arg689His,ENST00000443581,NM_000335.4,NM_198056.2;SCN5A,missense_variant,p.Arg689His,ENST00000333535,;SCN5A,missense_variant,p.Arg689His,ENST00000425664,NM_001099405.1;SCN5A,missense_variant,p.Arg689His,ENST00000423572,;SCN5A,missense_variant,p.Arg689His,ENST00000451551,NM_001160161.1;SCN5A,missense_variant,p.Arg689His,ENST00000414099,;SCN5A,missense_variant,p.Arg689His,ENST00000455624,;SCN5A,missense_variant,p.Arg689His,ENST00000450102,;SCN5A,missense_variant,p.Arg689His,ENST00000449557,;	uc003cio.2	c.2066G>A	2216/8456	2	2			c.2066G>A						3	SNP	c.(2065-2067)CGT>CAT	36	36			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Broad	voltage-gated sodium channel type V alpha		Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	38639416		0.537	ENSG00000183873	13703	g.chr3:38639416C>T	blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity							188.079178	KEEP	34	36	-1	45	54	34	36	-1	188.760411	45	54	0.425532	1	0	0	0	0	1	0	0	0	--	--		0	T			SCN5A_uc003cin.2_Missense_Mutation_p.R689H|SCN5A_uc003cil.3_Missense_Mutation_p.R689H|SCN5A_uc010hhi.2_Missense_Mutation_p.R689H|SCN5A_uc010hhk.2_Missense_Mutation_p.R689H|SCN5A_uc011ayr.1_Missense_Mutation_p.R689H|SCN5A_uc010hhj.1_Missense_Mutation_p.R300H	88	GBM-06-2565-TP	p.R689H	C	CTGGGCGAGACGGTTCCAGCA	NM_198056	NP_932173	38639416	Q14524	SCN5A_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	14	2260	-	T	T	Medulloblastoma(35;0.163)		Missense_Mutation	689						
SCN5A	6331	broad.mit.edu	GRCh37	3	38591931	38591931	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-5411-01	TCGA-06-5411-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000413689.1:c.5932G>C	p.Asp1978His	p.D1978H	ENST00000413689	NM_001160160.1	1978	Gac/Cac	0			1			G	D/H	uc003cio.2	protein_coding		CCDS46796.1			5932/6051									ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	c.(5932-5934)GAC>CAC			hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF178,Low_complexity_(Seg):seg	voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)			ENSP00000328968		28/28	4.13E-05		0.000175	0.000117		3.11E-05			rs761877321,COSM2986356,COSM2986355,COSM2986354	28/28	.		ENST00000333535	Transcript	1		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	ENSG00000183873	g.chr3:38591931C>G	10593			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=SCN5A_HUMAN&rb=1972&re=2016&var=D1978H	NA	getma.org/?cm=var&var=hg19,3,38591931,C,G&fts=all	D1978H	1.635	low	1																																		SCN5A_uc003cin.2_Missense_Mutation_p.D1977H|SCN5A_uc003cil.3_Missense_Mutation_p.D1978H|SCN5A_uc010hhi.2_Missense_Mutation_p.D1960H|SCN5A_uc010hhk.2_Missense_Mutation_p.D1945H|SCN5A_uc011ayr.1_Missense_Mutation_p.D1924H	0,1,1,1			probably_damaging(0.98)	p.D1978H	NM_198056	NP_932173		deleterious(0.02)	0,1,1,1	SCN5A_HUMAN	SCN5A	HGNC	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Q8WWN5_HUMAN,Q8WTQ6_HUMAN,A3EY21_HUMAN,A3EY20_HUMAN		28	6126	-	Medulloblastoma(35;0.163)		UPI00001D6F27	1978	D->A: No effect on interaction with NEDD4, NEDD4L or WWP2.				SNV	SCN5A,missense_variant,p.Asp1978His,ENST00000413689,NM_001160160.1,NM_001099404.1;SCN5A,missense_variant,p.Asp1977His,ENST00000443581,NM_000335.4,NM_198056.2;SCN5A,missense_variant,p.Asp1978His,ENST00000333535,;SCN5A,missense_variant,p.Asp1960His,ENST00000425664,NM_001099405.1;SCN5A,missense_variant,p.Asp1977His,ENST00000423572,;SCN5A,missense_variant,p.Asp1924His,ENST00000451551,NM_001160161.1;SCN5A,missense_variant,p.Asp1960His,ENST00000414099,;SCN5A,missense_variant,p.Asp1945His,ENST00000455624,;SCN5A,missense_variant,p.Asp1924His,ENST00000450102,;SCN5A,missense_variant,p.Asp1924His,ENST00000449557,;SCN5A,downstream_gene_variant,,ENST00000464652,;	uc003cio.2	c.5932G>C	6082/8456	4	4			c.5932G>C						3	SNP	c.(5932-5934)GAC>CAC	17	17			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Broad	voltage-gated sodium channel type V alpha		Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	38591931		0.602	ENSG00000183873	13703	g.chr3:38591931C>G	blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity							-5.765529	KEEP	0	4	-1	44	31	0	4	-1	10.304681	44	31	0.052632	1	0	0	0	0	1	0	0	0	1.635	low		0	G			SCN5A_uc003cin.2_Missense_Mutation_p.D1977H|SCN5A_uc003cil.3_Missense_Mutation_p.D1978H|SCN5A_uc010hhi.2_Missense_Mutation_p.D1960H|SCN5A_uc010hhk.2_Missense_Mutation_p.D1945H|SCN5A_uc011ayr.1_Missense_Mutation_p.D1924H	94	GBM-06-5411-TP	p.D1978H	C	GTGACACTGTCATAGGAGGGT	NM_198056	NP_932173	38591931	Q14524	SCN5A_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	6126	-	G	G	Medulloblastoma(35;0.163)		Missense_Mutation	1978	D->A: No effect on interaction with NEDD4, NEDD4L or WWP2.					
SCN5A	6331		GRCh37	3	38591818	38591818	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000413689.1:c.6045C>T	p.Ile2015=	p.I2015=	ENST00000413689	NM_001160160.1	2015	atC/atT	0																																																																																																																																																																																																																																												
SCN7A	6332	broad.mit.edu	GRCh37	2	167327191	167327191	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0154-01	TCGA-06-0154-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409855.1:c.598G>T	p.Asp200Tyr	p.D200Y	ENST00000409855	NM_002976.3	200	Gac/Tac	0			1			A	D/Y	uc002udu.1	protein_coding	YES	CCDS46442.1			598/5049									large_intestine(1)	1	c.(598-600)GAC>TAC			Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF14,Superfamily_domains:SSF81324	sodium channel, voltage-gated, type VII, alpha				ENSP00000386796		25-Jun									COSM2149903,COSM2149902	25-Jun	.		ENST00000409855	Transcript			muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	ENSG00000136546	g.chr2:167327191C>A	10594			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=SCN7A_HUMAN&rb=146&re=393&var=D200Y	getma.org/pdb.php?prot=SCN7A_HUMAN&from=146&to=393&var=D200Y	getma.org/?cm=var&var=hg19,2,167327191,C,A&fts=all	D200Y	--	--	1																																		SCN7A_uc010fpm.1_RNA	1,1	1		benign(0.004)	p.D200Y	NM_002976	NP_002967		deleterious(0.01)	1,1	SCN7A_HUMAN	SCN7A	HGNC	Q01118	SCN7A_HUMAN			Q16278_HUMAN,C9JW43_HUMAN,C9JII9_HUMAN		6	725	-			UPI0000209019	200			Helical; Name=S3 of repeat I; (By similarity).		SNV	SCN7A,missense_variant,p.Asp200Tyr,ENST00000409855,NM_002976.3;SCN7A,missense_variant,p.Asp200Tyr,ENST00000419992,;SCN7A,missense_variant,p.Asp200Tyr,ENST00000441411,;SCN7A,missense_variant,p.Asp200Tyr,ENST00000424326,;	uc002udu.1	c.598G>T	725/7183	2	2			c.598G>T						2	SNP	c.(598-600)GAC>TAC	30	30			large_intestine(1)	1	Broad	sodium channel, voltage-gated, type VII, alpha			167327191		0.294	ENSG00000136546	13704	g.chr2:167327191C>A	muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity							40.970206	KEEP	9	10	0.526315789	28	28	9	10	0.526315789	43.922721	28	28	0.266667	1	0	0	0	0	1	0	0	0	--	--		0	A			SCN7A_uc010fpm.1_RNA	26	GBM-06-0154-TP	p.D200Y	C	GGAATGAAGTCCAGAGGTGAG	NM_002976	NP_002967	167327191	Q01118	SCN7A_HUMAN	0			6	725	-	A	A			Missense_Mutation	200			Helical; Name=S3 of repeat I; (By similarity).			
SCN7A	0	broad.mit.edu	GRCh37	2	167262324	167262324	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-12-0615-01	TCGA-12-0615-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409855.1:c.4815A>G	p.Leu1605=	p.L1605=	ENST00000409855	NM_002976.3	1605	ttA/ttG	0			1			C	L	uc002udu.1	protein_coding	YES	CCDS46442.1			4815/5049									large_intestine(1)	1	c.(4813-4815)TTA>TTG			hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF14	sodium channel, voltage-gated, type VII, alpha				ENSP00000386796		25/25									COSM2153491,COSM2153490	25/25	.		ENST00000409855	Transcript			muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	ENSG00000136546	g.chr2:167262324T>C	10594			LOW								--	--	1																																			1,1	1			p.L1605L	NM_002976	NP_002967			1,1	SCN7A_HUMAN	SCN7A	HGNC	Q01118	SCN7A_HUMAN			Q16278_HUMAN,C9JW43_HUMAN,C9JII9_HUMAN		25	4942	-			UPI0000209019	1605					SNV	SCN7A,synonymous_variant,p.=,ENST00000409855,NM_002976.3;SCN7A,3_prime_UTR_variant,,ENST00000424326,;	uc002udu.1	c.4815A>G	4942/7183	3	3			c.4815A>G						2	SNP	c.(4813-4815)TTA>TTG	1	1			large_intestine(1)	1	Broad	sodium channel, voltage-gated, type VII, alpha			167262324		0.368	ENSG00000136546	13704	g.chr2:167262324T>C	muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity							338.888487	KEEP	49	53	-1	83	82	49	53	-1	341.764076	83	82	0.384615	1	0	0	0	0	0	0	1	0	--	--		0	C				117	GBM-12-0615-TP	p.L1605L	T	AAGGGTTGGCTAACAAAAACC	NM_002976	NP_002967	167262324	Q01118	SCN7A_HUMAN	0			25	4942	-	C	C			Silent	1605						
SCN7A	0	broad.mit.edu	GRCh37	2	167263066	167263066	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409855.1:c.4073G>A	p.Arg1358His	p.R1358H	ENST00000409855	NM_002976.3	1358	cGt/cAt	0			1			T	R/H	uc002udu.1	protein_coding	YES	CCDS46442.1			4073/5049									large_intestine(1)	1	c.(4072-4074)CGT>CAT			Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF14,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix	sodium channel, voltage-gated, type VII, alpha				ENSP00000386796		25/25	4.14E-05		8.78E-05	0.000233		3.01E-05			rs766963704,COSM1482149,COSM1482148	25/25	.		ENST00000409855	Transcript			muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	ENSG00000136546	g.chr2:167263066C>T	10594			MODERATE		1.885	low	getma.org/?cm=msa&ty=f&p=SCN7A_HUMAN&rb=1285&re=1495&var=R1358H	getma.org/pdb.php?prot=SCN7A_HUMAN&from=1285&to=1495&var=R1358H	getma.org/?cm=var&var=hg19,2,167263066,C,T&fts=all	R1358H	--	--	1																																			0,1,1	1		benign(0.212)	p.R1358H	NM_002976	NP_002967		deleterious(0.02)	0,1,1	SCN7A_HUMAN	SCN7A	HGNC	Q01118	SCN7A_HUMAN			Q16278_HUMAN,C9JW43_HUMAN,C9JII9_HUMAN		25	4200	-			UPI0000209019	1358			Helical; Voltage-sensor; Name=S4 of repeat IV; (By similarity).		SNV	SCN7A,missense_variant,p.Arg1358His,ENST00000409855,NM_002976.3;SCN7A,3_prime_UTR_variant,,ENST00000424326,;	uc002udu.1	c.4073G>A	4200/7183	1	1			c.4073G>A						2	SNP	c.(4072-4074)CGT>CAT	12	12			large_intestine(1)	1	Broad	sodium channel, voltage-gated, type VII, alpha			167263066		0.468	ENSG00000136546	13704	g.chr2:167263066C>T	muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity							159.286493	KEEP	34	26	-1	58	39	34	26	-1	161.235226	58	39	0.376712	1	0	0	0	0	1	0	0	0	--	--		0	T				138	GBM-14-0813-TP	p.R1358H	C	TTTTCCAAGACGCAGCATGTG	NM_002976	NP_002967	167263066	Q01118	SCN7A_HUMAN	0			25	4200	-	T	T			Missense_Mutation	1358			Helical; Voltage-sensor; Name=S4 of repeat IV; (By similarity).			
SCN7A	0	broad.mit.edu	GRCh37	2	167263066	167263066	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409855.1:c.4073G>A	p.Arg1358His	p.R1358H	ENST00000409855	NM_002976.3	1358	cGt/cAt	0			1			T	R/H	uc002udu.1	protein_coding	YES	CCDS46442.1			4073/5049									large_intestine(1)	1	c.(4072-4074)CGT>CAT			Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF14,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix	sodium channel, voltage-gated, type VII, alpha				ENSP00000386796		25/25	4.14E-05		8.78E-05	0.000233		3.01E-05			rs766963704,COSM1482149,COSM1482148	25/25	.		ENST00000409855	Transcript			muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	ENSG00000136546	g.chr2:167263066C>T	10594			MODERATE		1.885	low	getma.org/?cm=msa&ty=f&p=SCN7A_HUMAN&rb=1285&re=1495&var=R1358H	getma.org/pdb.php?prot=SCN7A_HUMAN&from=1285&to=1495&var=R1358H	getma.org/?cm=var&var=hg19,2,167263066,C,T&fts=all	R1358H	--	--	1																																			0,1,1	1		benign(0.212)	p.R1358H	NM_002976	NP_002967		deleterious(0.02)	0,1,1	SCN7A_HUMAN	SCN7A	HGNC	Q01118	SCN7A_HUMAN			Q16278_HUMAN,C9JW43_HUMAN,C9JII9_HUMAN		25	4200	-			UPI0000209019	1358			Helical; Voltage-sensor; Name=S4 of repeat IV; (By similarity).		SNV	SCN7A,missense_variant,p.Arg1358His,ENST00000409855,NM_002976.3;SCN7A,3_prime_UTR_variant,,ENST00000424326,;	uc002udu.1	c.4073G>A	4200/7183	1	1			c.4073G>A						2	SNP	c.(4072-4074)CGT>CAT	12	12			large_intestine(1)	1	Broad	sodium channel, voltage-gated, type VII, alpha			167263066		0.468	ENSG00000136546	13704	g.chr2:167263066C>T	muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity							132.171647	KEEP	29	25	-1	81	55	29	25	-1	139.541374	81	55	0.284091	1	0	0	0	0	1	0	0	0	--	--		0	T				139	GBM-14-0817-TP	p.R1358H	C	TTTTCCAAGACGCAGCATGTG	NM_002976	NP_002967	167263066	Q01118	SCN7A_HUMAN	0			25	4200	-	T	T			Missense_Mutation	1358			Helical; Voltage-sensor; Name=S4 of repeat IV; (By similarity).			
SCN7A	0	broad.mit.edu	GRCh37	2	167262458	167262458	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-2625-01	TCGA-19-2625-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409855.1:c.4681G>T	p.Ala1561Ser	p.A1561S	ENST00000409855	NM_002976.3	1561	Gct/Tct	0			1			A	A/S	uc002udu.1	protein_coding	YES	CCDS46442.1			4681/5049									large_intestine(1)	1	c.(4681-4683)GCT>TCT			hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF14	sodium channel, voltage-gated, type VII, alpha				ENSP00000386796		25/25									COSM3407015,COSM3407014	25/25	.		ENST00000409855	Transcript			muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	ENSG00000136546	g.chr2:167262458C>A	10594			MODERATE		0.95	low	getma.org/?cm=msa&ty=f&p=SCN7A_HUMAN&rb=1496&re=1682&var=A1561S	getma.org/pdb.php?prot=SCN7A_HUMAN&from=1496&to=1682&var=A1561S	getma.org/?cm=var&var=hg19,2,167262458,C,A&fts=all	A1561S	--	--	1																																			1,1	1		benign(0.245)	p.A1561S	NM_002976	NP_002967		tolerated(0.4)	1,1	SCN7A_HUMAN	SCN7A	HGNC	Q01118	SCN7A_HUMAN			Q16278_HUMAN,C9JW43_HUMAN,C9JII9_HUMAN		25	4808	-			UPI0000209019	1561					SNV	SCN7A,missense_variant,p.Ala1561Ser,ENST00000409855,NM_002976.3;SCN7A,3_prime_UTR_variant,,ENST00000424326,;	uc002udu.1	c.4681G>T	4808/7183	2	2			c.4681G>T						2	SNP	c.(4681-4683)GCT>TCT	33	33			large_intestine(1)	1	Broad	sodium channel, voltage-gated, type VII, alpha			167262458		0.453	ENSG00000136546	13704	g.chr2:167262458C>A	muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity							98.635942	KEEP	26	15	0.365853659	65	67	26	15	0.365853659	108.940074	65	67	0.237805	1	0	0	0	0	1	0	0	0	--	--		0	A				165	GBM-19-2625-TP	p.A1561S	C	AGGTCCAAAGCAATGAGCTGG	NM_002976	NP_002967	167262458	Q01118	SCN7A_HUMAN	0			25	4808	-	A	A			Missense_Mutation	1561						
SCN7A	0	broad.mit.edu	GRCh37	2	167273364	167273364	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409855.1:c.3267C>T	p.Asp1089=	p.D1089=	ENST00000409855	NM_002976.3	1089	gaC/gaT	0			1			A	D	uc002udu.1	protein_coding	YES	CCDS46442.1			3267/5049									large_intestine(1)	1	c.(3265-3267)GAC>GAT			Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF14	sodium channel, voltage-gated, type VII, alpha				ENSP00000386796		20/25									COSM3407017,COSM3407016	20/25	.		ENST00000409855	Transcript			muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	ENSG00000136546	g.chr2:167273364G>A	10594			LOW								--	--	1																																		SCN7A_uc010fpm.1_RNA	1,1	1			p.D1089D	NM_002976	NP_002967			1,1	SCN7A_HUMAN	SCN7A	HGNC	Q01118	SCN7A_HUMAN			Q16278_HUMAN,C9JW43_HUMAN,C9JII9_HUMAN		20	3394	-			UPI0000209019	1089					SNV	SCN7A,synonymous_variant,p.=,ENST00000409855,NM_002976.3;SCN7A,3_prime_UTR_variant,,ENST00000424326,;	uc002udu.1	c.3267C>T	3394/7183	2	2			c.3267C>T						2	SNP	c.(3265-3267)GAC>GAT	22	22			large_intestine(1)	1	Broad	sodium channel, voltage-gated, type VII, alpha			167273364		0.398	ENSG00000136546	13704	g.chr2:167273364G>A	muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity							57.721384	KEEP	11	10	-1	8	15	11	10	-1	57.8041	8	15	0.452381	1	0	0	0	0	0	0	1	0	--	--		0	A			SCN7A_uc010fpm.1_RNA	240	GBM-32-2632-TP	p.D1089D	G	CACTTGTTGGGTCAATGCATT	NM_002976	NP_002967	167273364	Q01118	SCN7A_HUMAN	0			20	3394	-	A	A			Silent	1089						
SCN7A	0	broad.mit.edu	GRCh37	2	167262867	167262867	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6192-01	TCGA-76-6192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409855.1:c.4272G>T	p.Met1424Ile	p.M1424I	ENST00000409855	NM_002976.3	1424	atG/atT	0			1			A	M/I	uc002udu.1	protein_coding	YES	CCDS46442.1			4272/5049									large_intestine(1)	1	c.(4270-4272)ATG>ATT			Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF14,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix	sodium channel, voltage-gated, type VII, alpha				ENSP00000386796		25/25									COSM3748096,COSM3748095	25/25	.		ENST00000409855	Transcript			muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	ENSG00000136546	g.chr2:167262867C>A	10594			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=SCN7A_HUMAN&rb=1285&re=1495&var=M1424I	getma.org/pdb.php?prot=SCN7A_HUMAN&from=1285&to=1495&var=M1424I	getma.org/?cm=var&var=hg19,2,167262867,C,A&fts=all	M1424I	--	--	1																																			1,1	1		benign(0.071)	p.M1424I	NM_002976	NP_002967		tolerated(0.35)	1,1	SCN7A_HUMAN	SCN7A	HGNC	Q01118	SCN7A_HUMAN			Q16278_HUMAN,C9JW43_HUMAN,C9JII9_HUMAN		25	4399	-			UPI0000209019	1424					SNV	SCN7A,missense_variant,p.Met1424Ile,ENST00000409855,NM_002976.3;SCN7A,3_prime_UTR_variant,,ENST00000424326,;	uc002udu.1	c.4272G>T	4399/7183	1	1			c.4272G>T						2	SNP	c.(4270-4272)ATG>ATT	54	54			large_intestine(1)	1	Broad	sodium channel, voltage-gated, type VII, alpha			167262867		0.348	ENSG00000136546	13704	g.chr2:167262867C>A	muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity							38.103935	KEEP	11	18	0.620689655	89	87	11	18	0.620689655	60.85616	89	87	0.135593	1	0	0	0	0	1	0	0	0	--	--		0	A				275	GBM-76-6192-TP	p.M1424I	C	AAAGACAGAGCATACTGTTGC	NM_002976	NP_002967	167262867	Q01118	SCN7A_HUMAN	0			25	4399	-	A	A			Missense_Mutation	1424						
SCN8A	0	broad.mit.edu	GRCh37	12	52180608	52180608	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01	TCGA-27-2527-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354534.6:c.4225G>A	p.Val1409Ile	p.V1409I	ENST00000354534	NM_014191.3	1409	Gta/Ata	0			1			A	V/I	uc001ryw.2	protein_coding	YES	CCDS44891.1			4225/5943									ovary(7)	7	c.(4225-4227)GTA>ATA			Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF132,Superfamily_domains:SSF81324	sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)			ENSP00000346534		22/27									COSM3398800,COSM3398799	22/27	.		ENST00000354534	Transcript	1		axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	ENSG00000196876	g.chr12:52180608G>A	10596			MODERATE		1.76	low	getma.org/?cm=msa&ty=f&p=SCN8A_HUMAN&rb=1234&re=1463&var=V1409I	getma.org/pdb.php?prot=SCN8A_HUMAN&from=1234&to=1463&var=V1409I	getma.org/?cm=var&var=hg19,12,52180608,G,A&fts=all	V1409I	--	--	1																																		SCN8A_uc010snl.1_Missense_Mutation_p.V1233I|SCN8A_uc001rza.1_RNA	1,1	1		benign(0.015)	p.V1409I	NM_014191	NP_055006		deleterious(0.01)	1,1	SCN8A_HUMAN	SCN8A	HGNC	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	Q9P2Q6_HUMAN,Q8WWN3_HUMAN		22	4403	+			UPI000006FD85	1409			III.		SNV	SCN8A,missense_variant,p.Val1409Ile,ENST00000354534,NM_014191.3,NM_001177984.2;SCN8A,missense_variant,p.Val1368Ile,ENST00000545061,;SCN8A,missense_variant,p.Val1368Ile,ENST00000355133,;SCN8A,downstream_gene_variant,,ENST00000548086,;	uc001ryw.2	c.4225G>A	4403/11556	2	2			c.4225G>A						12	SNP	c.(4225-4227)GTA>ATA	41	41			ovary(7)	7	Broad	sodium channel, voltage gated, type VIII, alpha		Lamotrigine(DB00555)	52180608		0.403	ENSG00000196876	13705	g.chr12:52180608G>A	axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity							1.663651	KEEP	0	5	-1	27	20	0	5	-1	9.348618	27	20	0.088889	1	0	0	0	0	1	0	0	0	--	--		0	A			SCN8A_uc010snl.1_Missense_Mutation_p.V1233I|SCN8A_uc001rza.1_RNA	204	GBM-27-2527-TP	p.V1409I	G	CCTTCTTCAAGTAGTAAGTAG	NM_014191	NP_055006	52180608	Q9UQD0	SCN8A_HUMAN	0		BRCA - Breast invasive adenocarcinoma(357;0.181)	22	4403	+	A	A			Missense_Mutation	1409			III.			
SCN9A	6335	broad.mit.edu	GRCh37	2	167055670	167055670	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0132-01	TCGA-06-0132-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409672.1:c.5446G>T	p.Asp1816Tyr	p.D1816Y	ENST00000409672	NM_002977.3	1816	Gat/Tat	0			1			A	D/Y	uc010fpl.2	protein_coding					5482/5970									ovary(6)|central_nervous_system(5)|skin(2)	13	c.(5446-5448)GAT>TAT			hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF28	sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)			ENSP00000304748		27/27									COSM3406999,COSM3406998	27/27	.		ENST00000303354	Transcript	1			voltage-gated sodium channel complex	voltage-gated sodium channel activity	ENSG00000169432	g.chr2:167055670C>A	10597			MODERATE		3.545	high	getma.org/?cm=msa&ty=f&p=SCN9A_HUMAN&rb=1760&re=1959&var=D1827Y	getma.org/pdb.php?prot=SCN9A_HUMAN&from=1760&to=1959&var=D1827Y	getma.org/?cm=var&var=hg19,2,167055670,C,A&fts=all	D1827Y	--	--	1																																		uc002udp.2_Intron	1,1			probably_damaging(0.999)	p.D1816Y	NM_002977	NP_002968		deleterious(0)	1,1		SCN9A	HGNC	Q15858	SCN9A_HUMAN			E9PBA5_HUMAN		27	5787	-			UPI00015E0A2B	1827					SNV	SCN9A,missense_variant,p.Asp1828Tyr,ENST00000303354,;SCN9A,missense_variant,p.Asp1828Tyr,ENST00000375387,;SCN9A,missense_variant,p.Asp1816Tyr,ENST00000409672,NM_002977.3;SCN9A,missense_variant,p.Asp1827Tyr,ENST00000409435,;AC010127.3,intron_variant,,ENST00000447809,;	uc010fpl.2	c.5446G>T	5823/9787	2	2			c.5446G>T						2	SNP	c.(5446-5448)GAT>TAT	32	32			ovary(6)|central_nervous_system(5)|skin(2)	13	Broad	sodium channel, voltage-gated, type IX, alpha		Lamotrigine(DB00555)|Lidocaine(DB00281)	167055670		0.463	ENSG00000169432	13706	g.chr2:167055670C>A		voltage-gated sodium channel complex	voltage-gated sodium channel activity							30.693935	KEEP	17	13	0.433333333	111	97	17	13	0.433333333	58.801016	111	97	0.126214	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002udp.2_Intron	17	GBM-06-0132-TP	p.D1816Y	C	ATGGGCAGATCCATGGCAATG	NM_002977	NP_002968	167055670	Q15858	SCN9A_HUMAN	0			27	5787	-	A	A			Missense_Mutation	1827						
SCN9A	6335	broad.mit.edu	GRCh37	2	167085353	167085353	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0155-01	TCGA-06-0155-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409672.1:c.4021A>T	p.Asn1341Tyr	p.N1341Y	ENST00000409672	NM_002977.3	1341	Aac/Tac	0			1			A	N/Y	uc010fpl.2	protein_coding					4057/5970									ovary(6)|central_nervous_system(5)|skin(2)	13	c.(4021-4023)AAC>TAC			Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF28	sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)			ENSP00000304748		22/27									COSM3407004,COSM3407003	22/27	.		ENST00000303354	Transcript	1			voltage-gated sodium channel complex	voltage-gated sodium channel activity	ENSG00000169432	g.chr2:167085353T>A	10597			MODERATE		2.89	medium	getma.org/?cm=msa&ty=f&p=SCN9A_HUMAN&rb=1228&re=1456&var=N1352Y	getma.org/pdb.php?prot=SCN9A_HUMAN&from=1228&to=1456&var=N1352Y	getma.org/?cm=var&var=hg19,2,167085353,T,A&fts=all	N1352Y	--	--	1																																		uc002udp.2_Intron	1,1			probably_damaging(1)	p.N1341Y	NM_002977	NP_002968		deleterious(0)	1,1		SCN9A	HGNC	Q15858	SCN9A_HUMAN			E9PBA5_HUMAN		22	4362	-			UPI00015E0A2B	1352			III.		SNV	SCN9A,missense_variant,p.Asn1353Tyr,ENST00000375387,;SCN9A,missense_variant,p.Asn1353Tyr,ENST00000303354,;SCN9A,missense_variant,p.Asn1341Tyr,ENST00000409672,NM_002977.3;SCN9A,missense_variant,p.Asn1352Tyr,ENST00000409435,;AC010127.3,intron_variant,,ENST00000447809,;	uc010fpl.2	c.4021A>T	4398/9787	2	2			c.4021A>T						2	SNP	c.(4021-4023)AAC>TAC	46	46			ovary(6)|central_nervous_system(5)|skin(2)	13	Broad	sodium channel, voltage-gated, type IX, alpha		Lamotrigine(DB00555)|Lidocaine(DB00281)	167085353		0.403	ENSG00000169432	13706	g.chr2:167085353T>A		voltage-gated sodium channel complex	voltage-gated sodium channel activity							474.023102	KEEP	73	119	-1	168	168	73	119	-1	482.398607	168	168	0.356989	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002udp.2_Intron	27	GBM-06-0155-TP	p.N1341Y	T	TCTGTGGTGTTAATACACTCA	NM_002977	NP_002968	167085353	Q15858	SCN9A_HUMAN	0			22	4362	-	A	A			Missense_Mutation	1352			III.			
SCN9A	6335	broad.mit.edu	GRCh37	2	167055444	167055444	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0213-01	TCGA-06-0213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409672.1:c.5672G>C	p.Arg1891Pro	p.R1891P	ENST00000409672	NM_002977.3	1891	cGt/cCt	0			1			G	R/P	uc010fpl.2	protein_coding					5708/5970									ovary(6)|central_nervous_system(5)|skin(2)	13	c.(5671-5673)CGT>CCT			hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF28,SMART_domains:SM00015	sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)			ENSP00000304748		27/27									COSM2150858,COSM2150857	27/27	.		ENST00000303354	Transcript	1			voltage-gated sodium channel complex	voltage-gated sodium channel activity	ENSG00000169432	g.chr2:167055444C>G	10597			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=SCN9A_HUMAN&rb=1889&re=1918&var=R1902P	NA	getma.org/?cm=var&var=hg19,2,167055444,C,G&fts=all	R1902P	--	--	1																																		uc002udp.2_Intron	1,1			possibly_damaging(0.551)	p.R1891P	NM_002977	NP_002968		deleterious(0.02)	1,1		SCN9A	HGNC	Q15858	SCN9A_HUMAN			E9PBA5_HUMAN		27	6013	-			UPI00015E0A2B	1902			IQ.		SNV	SCN9A,missense_variant,p.Arg1903Pro,ENST00000375387,;SCN9A,missense_variant,p.Arg1903Pro,ENST00000303354,;SCN9A,missense_variant,p.Arg1891Pro,ENST00000409672,NM_002977.3;SCN9A,missense_variant,p.Arg1902Pro,ENST00000409435,;AC010127.3,intron_variant,,ENST00000447809,;	uc010fpl.2	c.5672G>C	6049/9787	3	3			c.5672G>C						2	SNP	c.(5671-5673)CGT>CCT	4	4			ovary(6)|central_nervous_system(5)|skin(2)	13	Broad	sodium channel, voltage-gated, type IX, alpha		Lamotrigine(DB00555)|Lidocaine(DB00281)	167055444		0.363	ENSG00000169432	13706	g.chr2:167055444C>G		voltage-gated sodium channel complex	voltage-gated sodium channel activity							156.556866	KEEP	20	35	-1	74	59	20	35	-1	163.257808	74	59	0.286585	1	0	0	0	0	1	0	0	0	--	--		0	G			uc002udp.2_Intron	49	GBM-06-0213-TP	p.R1891P	C	TAAGCGGTAACGTCTATAAGC	NM_002977	NP_002968	167055444	Q15858	SCN9A_HUMAN	0			27	6013	-	G	G			Missense_Mutation	1902			IQ.			
SCN9A	6335	broad.mit.edu	GRCh37	2	167141062	167141062	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0881-01	TCGA-06-0881-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409672.1:c.1875C>T	p.Asn625=	p.N625=	ENST00000409672	NM_002977.3	625	aaC/aaT	0			1			A	N	uc010fpl.2	protein_coding					1878/5970									ovary(6)|central_nervous_system(5)|skin(2)	13	c.(1873-1875)AAC>AAT			Pfam_domain:PF11933,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF28	sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)			ENSP00000304748		27-Dec									COSM216530,COSM3407005	27-Dec	.		ENST00000303354	Transcript	1			voltage-gated sodium channel complex	voltage-gated sodium channel activity	ENSG00000169432	g.chr2:167141062G>A	10597			LOW								--	--	1																																		uc002udp.2_Intron|SCN9A_uc002udr.1_Silent_p.N496N|SCN9A_uc002uds.1_Silent_p.N496N|SCN9A_uc002udt.1_Silent_p.N496N	1,1				p.N625N	NM_002977	NP_002968			1,1		SCN9A	HGNC	Q15858	SCN9A_HUMAN			E9PBA5_HUMAN		12	2216	-			UPI00015E0A2B	625					SNV	SCN9A,synonymous_variant,p.=,ENST00000375387,;SCN9A,synonymous_variant,p.=,ENST00000303354,;SCN9A,synonymous_variant,p.=,ENST00000409672,NM_002977.3;SCN9A,synonymous_variant,p.=,ENST00000409435,;SCN9A,synonymous_variant,p.=,ENST00000452182,;SCN9A,synonymous_variant,p.=,ENST00000454569,;AC010127.3,intron_variant,,ENST00000447809,;	uc010fpl.2	c.1875C>T	2219/9787	1	1			c.1875C>T						2	SNP	c.(1873-1875)AAC>AAT	61	61			ovary(6)|central_nervous_system(5)|skin(2)	13	Broad	sodium channel, voltage-gated, type IX, alpha		Lamotrigine(DB00555)|Lidocaine(DB00281)	167141062		0.562	ENSG00000169432	13706	g.chr2:167141062G>A		voltage-gated sodium channel complex	voltage-gated sodium channel activity							-20.540526	KEEP	4	1	-1	85	56	4	1	-1	10.237745	85	56	0.037594	1	0	0	0	0	0	0	1	0	--	--		0	A			uc002udp.2_Intron|SCN9A_uc002udr.1_Silent_p.N496N|SCN9A_uc002uds.1_Silent_p.N496N|SCN9A_uc002udt.1_Silent_p.N496N	76	GBM-06-0881-TP	p.N625N	G	AGACCACACCGTTGCAGTCCA	NM_002977	NP_002968	167141062	Q15858	SCN9A_HUMAN	0			12	2216	-	A	A			Silent	625						
SCN9A	0	broad.mit.edu	GRCh37	2	167056293	167056293	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs142201175		TCGA-12-0821-01	TCGA-12-0821-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303354.6:c.4859G>A	p.Arg1620Gln	p.R1620Q	ENST00000303354		1620	cGa/cAa	0			1			T	R/Q	uc010fpl.2	protein_coding					4859/5970						not_provided		p.R1608Q(1)	ovary(6)|central_nervous_system(5)|skin(2)	13	c.(4822-4824)CGA>CAA			Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF28,Low_complexity_(Seg):seg,Superfamily_domains:SSF81324	sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)			ENSP00000304748		27/27	8.24E-06					1.50E-05			rs142201175,COSM108502,COSM3313312	27/27	.		ENST00000303354	Transcript	1			voltage-gated sodium channel complex	voltage-gated sodium channel activity	ENSG00000169432	g.chr2:167056293C>T	10597			MODERATE		4.39	high	getma.org/?cm=msa&ty=f&p=SCN9A_HUMAN&rb=1549&re=1759&var=R1619Q	getma.org/pdb.php?prot=SCN9A_HUMAN&from=1549&to=1759&var=R1619Q	getma.org/?cm=var&var=hg19,2,167056293,C,T&fts=all	R1619Q	--	--	1																																		uc002udp.2_RNA	1,1,1		21499247	probably_damaging(0.998)	p.R1608Q	NM_002977	NP_002968		deleterious(0.01)	1,1,1		SCN9A	HGNC	Q15858	SCN9A_HUMAN			E9PBA5_HUMAN		27	5164	-			UPI00015E0A2B	1619			Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).|IV.		SNV	SCN9A,missense_variant,p.Arg1620Gln,ENST00000303354,;SCN9A,missense_variant,p.Arg1620Gln,ENST00000375387,;SCN9A,missense_variant,p.Arg1608Gln,ENST00000409672,NM_002977.3;SCN9A,missense_variant,p.Arg1619Gln,ENST00000409435,;AC010127.3,non_coding_transcript_exon_variant,,ENST00000447809,;	uc010fpl.2	c.4823G>A	5200/9787	1	1			c.4823G>A						2	SNP	c.(4822-4824)CGA>CAA	1	1		p.R1608Q(1)	ovary(6)|central_nervous_system(5)|skin(2)	13	Broad	sodium channel, voltage-gated, type IX, alpha		Lamotrigine(DB00555)|Lidocaine(DB00281)	167056293		0.483	ENSG00000169432	13706	g.chr2:167056293C>T		voltage-gated sodium channel complex	voltage-gated sodium channel activity							456.862676	KEEP	107	65	-1	141	81	107	65	-1	457.997564	141	81	0.43787	1	0	0	0	0	1	0	0	0	--	--		0	T			uc002udp.2_RNA	123	GBM-12-0821-TP	p.R1608Q	C	ACGTAGGATTCGGCCAATCCT	NM_002977	NP_002968	167056293	Q15858	SCN9A_HUMAN	0			27	5164	-	T	T			Missense_Mutation	1619			Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).|IV.			
SCN9A	0	broad.mit.edu	GRCh37	2	167141278	167141278	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-12-3649-01	TCGA-12-3649-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303354.6:c.1662T>A	p.Ser554Arg	p.S554R	ENST00000303354		554	agT/agA	0			1			T	S/R	uc010fpl.2	protein_coding					1662/5970									ovary(6)|central_nervous_system(5)|skin(2)	13	c.(1657-1659)AGT>AGA			Pfam_domain:PF11933,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF28	sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)			ENSP00000304748		27-Dec									COSM3407009,COSM3407008	27-Dec	.		ENST00000303354	Transcript	1			voltage-gated sodium channel complex	voltage-gated sodium channel activity	ENSG00000169432	g.chr2:167141278A>T	10597			MODERATE		3.36	medium	getma.org/?cm=msa&ty=f&p=SCN9A_HUMAN&rb=463&re=695&var=S553R	NA	getma.org/?cm=var&var=hg19,2,167141278,A,T&fts=all	S553R	--	--	1																																		uc002udp.2_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.S424R|SCN9A_uc002uds.1_Missense_Mutation_p.S424R|SCN9A_uc002udt.1_Missense_Mutation_p.S424R	1,1			possibly_damaging(0.606)	p.S553R	NM_002977	NP_002968		deleterious(0.02)	1,1		SCN9A	HGNC	Q15858	SCN9A_HUMAN			E9PBA5_HUMAN		12	2000	-			UPI00015E0A2B	553					SNV	SCN9A,missense_variant,p.Ser554Arg,ENST00000303354,;SCN9A,missense_variant,p.Ser554Arg,ENST00000375387,;SCN9A,missense_variant,p.Ser553Arg,ENST00000409672,NM_002977.3;SCN9A,missense_variant,p.Ser553Arg,ENST00000409435,;SCN9A,missense_variant,p.Ser418Arg,ENST00000452182,;SCN9A,missense_variant,p.Ser418Arg,ENST00000454569,;AC010127.3,intron_variant,,ENST00000447809,;	uc010fpl.2	c.1659T>A	2003/9787	1	1			c.1659T>A						2	SNP	c.(1657-1659)AGT>AGA	13	13			ovary(6)|central_nervous_system(5)|skin(2)	13	Broad	sodium channel, voltage-gated, type IX, alpha		Lamotrigine(DB00555)|Lidocaine(DB00281)	167141278		0.443	ENSG00000169432	13706	g.chr2:167141278A>T		voltage-gated sodium channel complex	voltage-gated sodium channel activity							46.68889	KEEP	6	11	-1	13	17	6	11	-1	47.515416	13	17	0.355556	1	0	0	0	0	1	0	0	0	--	--		0	T			uc002udp.2_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.S424R|SCN9A_uc002uds.1_Missense_Mutation_p.S424R|SCN9A_uc002udt.1_Missense_Mutation_p.S424R	125	GBM-12-3649-TP	p.S553R	A	AACTAAAAAGACTTGTTCTGC	NM_002977	NP_002968	167141278	Q15858	SCN9A_HUMAN	0			12	2000	-	T	T			Missense_Mutation	553						
SCN9A	0	broad.mit.edu	GRCh37	2	167056246	167056246	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-16-0846-01	TCGA-16-0846-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303354.6:c.4906T>A	p.Phe1636Ile	p.F1636I	ENST00000303354		1636	Ttt/Att	0			1			T	F/I	uc010fpl.2	protein_coding					4906/5970									ovary(6)|central_nervous_system(5)|skin(2)	13	c.(4870-4872)TTT>ATT			Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF28,Superfamily_domains:SSF81324	sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)			ENSP00000304748		27/27									COSM3407001,COSM3407000	27/27	.		ENST00000303354	Transcript	1			voltage-gated sodium channel complex	voltage-gated sodium channel activity	ENSG00000169432	g.chr2:167056246A>T	10597			MODERATE		2.69	medium	getma.org/?cm=msa&ty=f&p=SCN9A_HUMAN&rb=1549&re=1759&var=F1635I	getma.org/pdb.php?prot=SCN9A_HUMAN&from=1549&to=1759&var=F1635I	getma.org/?cm=var&var=hg19,2,167056246,A,T&fts=all	F1635I	--	--	1																																		uc002udp.2_RNA	1,1			probably_damaging(0.998)	p.F1624I	NM_002977	NP_002968		deleterious(0)	1,1		SCN9A	HGNC	Q15858	SCN9A_HUMAN			E9PBA5_HUMAN		27	5211	-			UPI00015E0A2B	1635			IV.		SNV	SCN9A,missense_variant,p.Phe1636Ile,ENST00000303354,;SCN9A,missense_variant,p.Phe1636Ile,ENST00000375387,;SCN9A,missense_variant,p.Phe1624Ile,ENST00000409672,NM_002977.3;SCN9A,missense_variant,p.Phe1635Ile,ENST00000409435,;AC010127.3,non_coding_transcript_exon_variant,,ENST00000447809,;	uc010fpl.2	c.4870T>A	5247/9787	2	2			c.4870T>A						2	SNP	c.(4870-4872)TTT>ATT	48	48			ovary(6)|central_nervous_system(5)|skin(2)	13	Broad	sodium channel, voltage-gated, type IX, alpha		Lamotrigine(DB00555)|Lidocaine(DB00281)	167056246		0.507	ENSG00000169432	13706	g.chr2:167056246A>T		voltage-gated sodium channel complex	voltage-gated sodium channel activity							362.920052	KEEP	67	59	-1	51	59	67	59	-1	363.03516	51	59	0.524229	1	0	0	0	0	1	0	0	0	--	--		0	T			uc002udp.2_RNA	155	GBM-16-0846-TP	p.F1624I	A	ATCAAAGCAAAGAGCAGCGTG	NM_002977	NP_002968	167056246	Q15858	SCN9A_HUMAN	0			27	5211	-	T	T			Missense_Mutation	1635			IV.			
SCN9A	0	broad.mit.edu	GRCh37	2	167141183	167141183	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-26-5136-01	TCGA-26-5136-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303354.6:c.1757G>C	p.Arg586Thr	p.R586T	ENST00000303354		586	aGg/aCg	0			1			G	R/T	uc010fpl.2	protein_coding					1757/5970									ovary(6)|central_nervous_system(5)|skin(2)	13	c.(1753-1755)AGG>ACG			Pfam_domain:PF11933,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF28	sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)			ENSP00000304748		27-Dec									COSM3407007,COSM3407006	27-Dec	.		ENST00000303354	Transcript	1			voltage-gated sodium channel complex	voltage-gated sodium channel activity	ENSG00000169432	g.chr2:167141183C>G	10597			MODERATE		3.25	medium	getma.org/?cm=msa&ty=f&p=SCN9A_HUMAN&rb=463&re=695&var=R585T	NA	getma.org/?cm=var&var=hg19,2,167141183,C,G&fts=all	R585T	--	--	1																																		uc002udp.2_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.R456T|SCN9A_uc002uds.1_Missense_Mutation_p.R456T|SCN9A_uc002udt.1_Missense_Mutation_p.R456T	1,1			probably_damaging(0.998)	p.R585T	NM_002977	NP_002968		deleterious(0.04)	1,1		SCN9A	HGNC	Q15858	SCN9A_HUMAN			E9PBA5_HUMAN		12	2095	-			UPI00015E0A2B	585					SNV	SCN9A,missense_variant,p.Arg586Thr,ENST00000303354,;SCN9A,missense_variant,p.Arg586Thr,ENST00000375387,;SCN9A,missense_variant,p.Arg585Thr,ENST00000409672,NM_002977.3;SCN9A,missense_variant,p.Arg585Thr,ENST00000409435,;SCN9A,missense_variant,p.Arg450Thr,ENST00000452182,;SCN9A,missense_variant,p.Arg450Thr,ENST00000454569,;AC010127.3,intron_variant,,ENST00000447809,;	uc010fpl.2	c.1754G>C	2098/9787	3	3			c.1754G>C						2	SNP	c.(1753-1755)AGG>ACG	58	58			ovary(6)|central_nervous_system(5)|skin(2)	13	Broad	sodium channel, voltage-gated, type IX, alpha		Lamotrigine(DB00555)|Lidocaine(DB00281)	167141183		0.502	ENSG00000169432	13706	g.chr2:167141183C>G		voltage-gated sodium channel complex	voltage-gated sodium channel activity							228.565048	KEEP	33	43	-1	52	64	33	43	-1	230.218602	52	64	0.39779	1	0	0	0	0	1	0	0	0	--	--		0	G			uc002udp.2_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.R456T|SCN9A_uc002uds.1_Missense_Mutation_p.R456T|SCN9A_uc002udt.1_Missense_Mutation_p.R456T	185	GBM-26-5136-TP	p.R585T	C	CAGTGAGCCCCTTCTGCTCTC	NM_002977	NP_002968	167141183	Q15858	SCN9A_HUMAN	0			12	2095	-	G	G			Missense_Mutation	585						
SCN9A	0	broad.mit.edu	GRCh37	2	167055444	167055444	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2519-01	TCGA-27-2519-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303354.6:c.5708G>A	p.Arg1903His	p.R1903H	ENST00000303354		1903	cGt/cAt	0		T:0	1	T:0		T	R/H	uc010fpl.2	protein_coding					5708/5970									ovary(6)|central_nervous_system(5)|skin(2)	13	c.(5671-5673)CGT>CAT			hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF28,SMART_domains:SM00015	sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)	T:0.001		ENSP00000304748	T:0	27/27	8.25E-06					1.50E-05			rs180949263,COSM1008759,COSM3406997	27/27	.		ENST00000303354	Transcript	1	T:0.0002		voltage-gated sodium channel complex	voltage-gated sodium channel activity	ENSG00000169432	g.chr2:167055444C>T	10597			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=SCN9A_HUMAN&rb=1889&re=1918&var=R1902H	NA	getma.org/?cm=var&var=hg19,2,167055444,C,T&fts=all	R1902H	--	--	1																																		uc002udp.2_Intron	0,1,1			benign(0.001)	p.R1891H	NM_002977	NP_002968	T:0	tolerated(0.1)	0,1,1		SCN9A	HGNC	Q15858	SCN9A_HUMAN			E9PBA5_HUMAN		27	6013	-			UPI00015E0A2B	1902			IQ.		SNV	SCN9A,missense_variant,p.Arg1903His,ENST00000375387,;SCN9A,missense_variant,p.Arg1903His,ENST00000303354,;SCN9A,missense_variant,p.Arg1891His,ENST00000409672,NM_002977.3;SCN9A,missense_variant,p.Arg1902His,ENST00000409435,;AC010127.3,intron_variant,,ENST00000447809,;	uc010fpl.2	c.5672G>A	6049/9787	1	1			c.5672G>A						2	SNP	c.(5671-5673)CGT>CAT	4	4			ovary(6)|central_nervous_system(5)|skin(2)	13	Broad	sodium channel, voltage-gated, type IX, alpha		Lamotrigine(DB00555)|Lidocaine(DB00281)	167055444		0.363	ENSG00000169432	13706	g.chr2:167055444C>T		voltage-gated sodium channel complex	voltage-gated sodium channel activity							215.037995	KEEP	43	36	-1	93	66	43	36	-1	219.33087	93	66	0.35023	1	0	0	0	0	1	0	0	0	--	--		0	T			uc002udp.2_Intron	199	GBM-27-2519-TP	p.R1891H	C	TAAGCGGTAACGTCTATAAGC	NM_002977	NP_002968	167055444	Q15858	SCN9A_HUMAN	0			27	6013	-	T	T			Missense_Mutation	1902			IQ.			
SCNN1A	6337	broad.mit.edu	GRCh37	12	6463925	6463925	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-06-2563-01	TCGA-06-2563-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360168.3:c.1410C>A	p.Tyr470Ter	p.Y470*	ENST00000360168	NM_001159576.1	470	taC/taA	0			1			T	Y/*	uc001qnx.2	protein_coding		CCDS8543.1			1233/2010										0	c.(1231-1233)TAC>TAA			hmmpanther:PTHR11690:SF124,hmmpanther:PTHR11690,PROSITE_patterns:PS01206,Pfam_domain:PF00858,Gene3D:2qtsA02,TIGRFAM_domain:TIGR00859,Prints_domain:PR01078	sodium channel, nonvoltage-gated 1 alpha isoform	Amiloride(DB00594)|Triamterene(DB00384)			ENSP00000228916		13-Jul									COSM2152920	13-Jul	.		ENST00000228916	Transcript	1		excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	ENSG00000111319	g.chr12:6463925G>T	10599			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,12,6463925,G,T&fts=all	Y411*	--	--	1																																		SCNN1A_uc001qnv.2_Nonsense_Mutation_p.Y111*|SCNN1A_uc001qnw.2_Nonsense_Mutation_p.Y470*|SCNN1A_uc010sfb.1_Nonsense_Mutation_p.Y434*	1				p.Y411*	NM_001038	NP_001029			1	SCNNA_HUMAN	SCNN1A	HGNC	P37088	SCNNA_HUMAN			F5GXE6_HUMAN		7	1522	-			UPI0000000DC4	411			Extracellular (By similarity).		SNV	SCNN1A,stop_gained,p.Tyr411Ter,ENST00000358945,;SCNN1A,stop_gained,p.Tyr470Ter,ENST00000360168,NM_001159576.1;SCNN1A,stop_gained,p.Tyr411Ter,ENST00000228916,NM_001038.5;SCNN1A,stop_gained,p.Tyr111Ter,ENST00000540037,;SCNN1A,stop_gained,p.Tyr434Ter,ENST00000543768,NM_001159575.1;SCNN1A,stop_gained,p.Tyr411Ter,ENST00000396966,;SCNN1A,non_coding_transcript_exon_variant,,ENST00000538979,;SCNN1A,non_coding_transcript_exon_variant,,ENST00000366131,;SCNN1A,non_coding_transcript_exon_variant,,ENST00000541249,;SCNN1A,non_coding_transcript_exon_variant,,ENST00000539030,;SCNN1A,downstream_gene_variant,,ENST00000536087,;SCNN1A,downstream_gene_variant,,ENST00000542966,;SCNN1A,upstream_gene_variant,,ENST00000457871,;SCNN1A,3_prime_UTR_variant,,ENST00000338748,;	uc001qnx.2	c.1233C>A	1332/3135	5	1			c.1233C>A						12	SNP	c.(1231-1233)TAC>TAA	3	3				0	Broad	sodium channel, nonvoltage-gated 1 alpha isoform		Amiloride(DB00594)|Triamterene(DB00384)	6463925		0.557	ENSG00000111319	13708	g.chr12:6463925G>T	excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding							110.354165	KEEP	18	20	0.473684211	33	22	18	20	0.473684211	111.04887	33	22	0.406593	1	0	0	0	0	0	1	0	0	--	--		0	T			SCNN1A_uc001qnv.2_Nonsense_Mutation_p.Y111*|SCNN1A_uc001qnw.2_Nonsense_Mutation_p.Y470*|SCNN1A_uc010sfb.1_Nonsense_Mutation_p.Y434*	86	GBM-06-2563-TP	p.Y411*	G	CCTGCTGTGTGTACTTTGAAG	NM_001038	NP_001029	6463925	P37088	SCNNA_HUMAN	0			7	1522	-	T	T			Nonsense_Mutation	411			Extracellular (By similarity).			
SCNN1A	0	broad.mit.edu	GRCh37	12	6464465	6464465	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0787-01	TCGA-14-0787-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000228916.2:c.1116C>T	p.Gly372=	p.G372=	ENST00000228916	NM_001038.5	372	ggC/ggT	0		A:0	1	A:0		A	G	uc001qnx.2	protein_coding		CCDS8543.1			1116/2010										0	c.(1114-1116)GGC>GGT			hmmpanther:PTHR11690:SF124,hmmpanther:PTHR11690,Pfam_domain:PF00858,Gene3D:2qtsA02,TIGRFAM_domain:TIGR00859	sodium channel, nonvoltage-gated 1 alpha isoform	Amiloride(DB00594)|Triamterene(DB00384)	A:0		ENSP00000228916	A:0	13-Jun	1.65E-05							6.82E-05	rs567003433,COSM3398989	13-Jun	.		ENST00000228916	Transcript	1	A:0.0002	excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	ENSG00000111319	g.chr12:6464465G>A	10599			LOW								--	--	1																																		SCNN1A_uc001qnv.2_Silent_p.G72G|SCNN1A_uc001qnw.2_Silent_p.G431G|SCNN1A_uc010sfb.1_Silent_p.G395G	0,1				p.G372G	NM_001038	NP_001029	A:0.001		0,1	SCNNA_HUMAN	SCNN1A	HGNC	P37088	SCNNA_HUMAN			F5GXE6_HUMAN		6	1405	-			UPI0000000DC4	372			Extracellular (By similarity).		SNV	SCNN1A,synonymous_variant,p.=,ENST00000358945,;SCNN1A,synonymous_variant,p.=,ENST00000360168,NM_001159576.1;SCNN1A,synonymous_variant,p.=,ENST00000228916,NM_001038.5;SCNN1A,synonymous_variant,p.=,ENST00000540037,;SCNN1A,synonymous_variant,p.=,ENST00000543768,NM_001159575.1;SCNN1A,synonymous_variant,p.=,ENST00000396966,;SCNN1A,non_coding_transcript_exon_variant,,ENST00000538979,;SCNN1A,non_coding_transcript_exon_variant,,ENST00000366131,;SCNN1A,non_coding_transcript_exon_variant,,ENST00000541249,;SCNN1A,non_coding_transcript_exon_variant,,ENST00000539030,;SCNN1A,downstream_gene_variant,,ENST00000536087,;SCNN1A,downstream_gene_variant,,ENST00000542966,;SCNN1A,upstream_gene_variant,,ENST00000457871,;SCNN1A,3_prime_UTR_variant,,ENST00000338748,;	uc001qnx.2	c.1116C>T	1215/3135	1	1			c.1116C>T						12	SNP	c.(1114-1116)GGC>GGT	63	63				0	Broad	sodium channel, nonvoltage-gated 1 alpha isoform		Amiloride(DB00594)|Triamterene(DB00384)	6464465		0.612	ENSG00000111319	13708	g.chr12:6464465G>A	excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding							47.691695	KEEP	7	9	-1	12	17	7	9	-1	48.123954	12	17	0.390244	1	0	0	0	0	0	0	1	0	--	--		0	A			SCNN1A_uc001qnv.2_Silent_p.G72G|SCNN1A_uc001qnw.2_Silent_p.G431G|SCNN1A_uc010sfb.1_Silent_p.G395G	135	GBM-14-0787-TP	p.G372G	G	AGGTCTCCACGCCAGGCCGCA	NM_001038	NP_001029	6464465	P37088	SCNNA_HUMAN	0			6	1405	-	A	A			Silent	372			Extracellular (By similarity).			
SCNN1B	0	broad.mit.edu	GRCh37	16	23360058	23360058	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-32-4208-01	TCGA-32-4208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343070.2:c.138C>A	p.Pro46=	p.P46=	ENST00000343070	NM_000336.2	46	ccC/ccA	0			1			A	P	uc002dln.2	protein_coding	YES	CCDS10609.1			138/1923									ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7	c.(136-138)CCC>CCA			Pfam_domain:PF00858,hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF18,TIGRFAM_domain:TIGR00859	sodium channel, nonvoltage-gated 1, beta	Amiloride(DB00594)|Triamterene(DB00384)			ENSP00000345751		13-Feb									COSM3402188,COSM3402189	13-Feb	.		ENST00000343070	Transcript	1		excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	ENSG00000168447	g.chr16:23360058C>A	10600			LOW								--	--	1																																			1,1	1			p.P46P	NM_000336	NP_000327			1,1	SCNNB_HUMAN	SCNN1B	HGNC	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	B2R812_HUMAN		2	314	+			UPI0000135616	46			Cytoplasmic (By similarity).		SNV	SCNN1B,synonymous_variant,p.=,ENST00000343070,NM_000336.2;SCNN1B,synonymous_variant,p.=,ENST00000307331,;SCNN1B,synonymous_variant,p.=,ENST00000568923,;SCNN1B,synonymous_variant,p.=,ENST00000568085,;SCNN1B,non_coding_transcript_exon_variant,,ENST00000569789,;SCNN1B,synonymous_variant,p.=,ENST00000564275,;SCNN1B,upstream_gene_variant,,ENST00000566870,;	uc002dln.2	c.138C>A	314/2597	2	2			c.138C>A						16	SNP	c.(136-138)CCC>CCA	25	25			ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7	Broad	sodium channel, nonvoltage-gated 1, beta		Amiloride(DB00594)|Triamterene(DB00384)	23360058		0.612	ENSG00000168447	13709	g.chr16:23360058C>A	excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding							-6.527056	KEEP	3	0	-1	35	31	3	0	-1	6.364819	35	31	0.05	1	0	0	0	0	0	0	1	0	--	--		0	A				243	GBM-32-4208-TP	p.P46P	C	GTGAGGGGCCCAAGAAGAAAG	NM_000336	NP_000327	23360058	P51168	SCNNB_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0465)	2	314	+	A	A			Silent	46			Cytoplasmic (By similarity).			
SCNN1B	0	broad.mit.edu	GRCh37	16	23366788	23366788	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343070.2:c.754G>A	p.Gly252Arg	p.G252R	ENST00000343070	NM_000336.2	252	Gga/Aga	0	A:0		1			A	G/R	uc002dln.2	protein_coding	YES	CCDS10609.1			754/1923									ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7	c.(754-756)GGA>AGA			Gene3D:2qtsA02,Pfam_domain:PF00858,Prints_domain:PR01078,hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF18,TIGRFAM_domain:TIGR00859	sodium channel, nonvoltage-gated 1, beta	Amiloride(DB00594)|Triamterene(DB00384)		A:0.0001	ENSP00000345751		13-Apr	3.29E-05					4.51E-05	0.00111		rs373232226,COSM3402190,COSM3402191	13-Apr	.		ENST00000343070	Transcript	1		excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	ENSG00000168447	g.chr16:23366788G>A	10600			MODERATE		1.21	low	getma.org/?cm=msa&ty=f&p=SCNNB_HUMAN&rb=29&re=544&var=G252R	getma.org/pdb.php?prot=SCNNB_HUMAN&from=29&to=544&var=G252R	getma.org/?cm=var&var=hg19,16,23366788,G,A&fts=all	G252R	--	--	1																																			0,1,1	1		probably_damaging(0.984)	p.G252R	NM_000336	NP_000327		deleterious(0.01)	0,1,1	SCNNB_HUMAN	SCNN1B	HGNC	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	B2R812_HUMAN		4	930	+			UPI0000135616	252			Extracellular (By similarity).		SNV	SCNN1B,missense_variant,p.Gly252Arg,ENST00000343070,NM_000336.2;SCNN1B,missense_variant,p.Gly297Arg,ENST00000307331,;SCNN1B,missense_variant,p.Gly225Arg,ENST00000568923,;SCNN1B,missense_variant,p.Gly252Arg,ENST00000568085,;SCNN1B,downstream_gene_variant,,ENST00000569789,;SCNN1B,upstream_gene_variant,,ENST00000566647,;SCNN1B,missense_variant,p.Gly252Arg,ENST00000564275,;SCNN1B,non_coding_transcript_exon_variant,,ENST00000566441,;SCNN1B,downstream_gene_variant,,ENST00000566870,;	uc002dln.2	c.754G>A	930/2597	2	2			c.754G>A						16	SNP	c.(754-756)GGA>AGA	32	32			ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7	Broad	sodium channel, nonvoltage-gated 1, beta		Amiloride(DB00594)|Triamterene(DB00384)	23366788		0.488	ENSG00000168447	13709	g.chr16:23366788G>A	excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding							41.736221	KEEP	14	7	-1	21	49	14	7	-1	46.506615	21	49	0.232877	1	0	0	0	0	1	0	0	0	--	--		0	A				270	GBM-76-4931-TP	p.G252R	G	CTGCCTATTCGGAGCTGAGCC	NM_000336	NP_000327	23366788	P51168	SCNNB_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0465)	4	930	+	A	A			Missense_Mutation	252			Extracellular (By similarity).			
SCNN1B	0	broad.mit.edu	GRCh37	16	23387159	23387159	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-81-5910-01	TCGA-81-5910-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343070.2:c.1253G>A	p.Arg418Gln	p.R418Q	ENST00000343070	NM_000336.2	418	cGg/cAg	0	A:0.0005	A:0.0008	1	A:0		A	R/Q	uc002dln.2	protein_coding	YES	CCDS10609.1			1253/1923									ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7	c.(1252-1254)CGG>CAG			Pfam_domain:PF00858,hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF18,TIGRFAM_domain:TIGR00859	sodium channel, nonvoltage-gated 1, beta	Amiloride(DB00594)|Triamterene(DB00384)	A:0	A:0	ENSP00000345751	A:0	13-Aug	5.77E-05	0.00048	0.000173						rs201649568,COSM3402192,COSM3402193	13-Aug	common_variant		ENST00000343070	Transcript	1	A:0.0002	excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	ENSG00000168447	g.chr16:23387159G>A	10600			MODERATE		-0.55	neutral	getma.org/?cm=msa&ty=f&p=SCNNB_HUMAN&rb=29&re=544&var=R418Q	getma.org/pdb.php?prot=SCNNB_HUMAN&from=29&to=544&var=R418Q	getma.org/?cm=var&var=hg19,16,23387159,G,A&fts=all	R418Q	--	--	1																																			0,1,1	1		benign(0.003)	p.R418Q	NM_000336	NP_000327	A:0	tolerated(1)	0,1,1	SCNNB_HUMAN	SCNN1B	HGNC	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	B2R812_HUMAN		8	1429	+			UPI0000135616	418			Extracellular (By similarity).		SNV	SCNN1B,missense_variant,p.Arg418Gln,ENST00000343070,NM_000336.2;SCNN1B,missense_variant,p.Arg463Gln,ENST00000307331,;SCNN1B,missense_variant,p.Arg391Gln,ENST00000568923,;SCNN1B,missense_variant,p.Arg382Gln,ENST00000568085,;SCNN1B,3_prime_UTR_variant,,ENST00000564275,;SCNN1B,downstream_gene_variant,,ENST00000566441,;	uc002dln.2	c.1253G>A	1429/2597	2	2			c.1253G>A						16	SNP	c.(1252-1254)CGG>CAG	22	22			ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7	Broad	sodium channel, nonvoltage-gated 1, beta		Amiloride(DB00594)|Triamterene(DB00384)	23387159		0.612	ENSG00000168447	13709	g.chr16:23387159G>A	excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding							67.404852	KEEP	6	20	-1	10	16	6	20	-1	67.444293	10	16	0.466667	1	0	0	0	0	1	0	0	0	--	--		0	A				289	GBM-81-5910-TP	p.R418Q	G	TGCAACAACCGGGACTTCCCA	NM_000336	NP_000327	23387159	P51168	SCNNB_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0465)	8	1429	+	A	A			Missense_Mutation	418			Extracellular (By similarity).			
SCNN1D	6339	broad.mit.edu	GRCh37	1	1222331	1222331	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0750-01	TCGA-06-0750-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379116.5:c.1095C>T	p.Ser365=	p.S365=	ENST00000379116	NM_001130413.3	365	agC/agT	0			1			T	S	uc001adu.1	protein_coding					603/1917										0	c.(601-603)AGC>AGT			hmmpanther:PTHR11690:SF132,hmmpanther:PTHR11690,Pfam_domain:PF00858,TIGRFAM_domain:TIGR00859	sodium channel, nonvoltage-gated 1, delta				ENSP00000339504		15-May									COSM2151976,COSM2151975	15-May	.		ENST00000338555	Transcript						ENSG00000162572	g.chr1:1222331C>T	10601			LOW								--	--	1																																		SCNN1D_uc001adt.1_Silent_p.S365S|SCNN1D_uc001adw.2_Silent_p.S267S|SCNN1D_uc001adx.2_5'UTR|SCNN1D_uc001adv.2_Silent_p.S201S	1,1				p.S201S	NM_002978	NP_002969			1,1	SCNND_HUMAN	SCNN1D	HGNC				Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)			7	1227	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	UPI000013E180						SNV	SCNN1D,synonymous_variant,p.=,ENST00000338555,;SCNN1D,synonymous_variant,p.=,ENST00000379116,NM_001130413.3;SCNN1D,synonymous_variant,p.=,ENST00000325425,;SCNN1D,synonymous_variant,p.=,ENST00000400928,;SCNN1D,upstream_gene_variant,,ENST00000379099,;SCNN1D,downstream_gene_variant,,ENST00000470022,;SCNN1D,downstream_gene_variant,,ENST00000467651,;SCNN1D,3_prime_UTR_variant,,ENST00000379101,;	uc001adu.1	c.603C>T	1747/3475	2	2			c.603C>T						1	SNP	c.(601-603)AGC>AGT	21	21				0	Broad	sodium channel, nonvoltage-gated 1, delta			1222331		0.697	ENSG00000162572	13710	g.chr1:1222331C>T										101.320192	KEEP	15	22	-1	31	14	15	22	-1	101.322099	31	14	0.492537	1	0	0	0	0	0	0	1	0	--	--		0	T			SCNN1D_uc001adt.1_Silent_p.S365S|SCNN1D_uc001adw.2_Silent_p.S267S|SCNN1D_uc001adx.2_5'UTR|SCNN1D_uc001adv.2_Silent_p.S201S	70	GBM-06-0750-TP	p.S201S	C	ACTCGGGCAGCCGGGTCAGAG	NM_002978	NP_002969	1222331			0		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	7	1227	+	T	T	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	Silent							
SCNN1D	6339		GRCh37	1	1222931	1222931	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000379116.5:c.1354A>G	p.Thr452Ala	p.T452A	ENST00000379116	NM_001130413.3	452	Acg/Gcg	0																																																																																																																																																																																																																																												
SCNN1G	6340	broad.mit.edu	GRCh37	16	23226531	23226531	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0126-01	TCGA-06-0126-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300061.2:c.1691G>A	p.Arg564His	p.R564H	ENST00000300061	NM_001039.3	564	cGc/cAc	0			1			A	R/H	uc002dlm.1	protein_coding	YES	CCDS10608.1			1691/1950									ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6	c.(1690-1692)CGC>CAC			hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF19,TIGRFAM_domain:TIGR00859	sodium channel, nonvoltage-gated 1, gamma	Amiloride(DB00594)|Triamterene(DB00384)			ENSP00000300061		13/13	3.29E-05	9.61E-05				1.50E-05		0.000121	rs762732326,COSM258621	13/13	.		ENST00000300061	Transcript	1		excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	ENSG00000166828	g.chr16:23226531G>A	10602			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=SCNNG_HUMAN&rb=554&re=599&var=R564H	NA	getma.org/?cm=var&var=hg19,16,23226531,G,A&fts=all	R564H	--	--	1																																			0,1	1		benign(0.003)	p.R564H	NM_001039	NP_001030		tolerated(0.57)	0,1	SCNNG_HUMAN	SCNN1G	HGNC	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	Q6LCK5_HUMAN,A5X2V1_HUMAN		13	1830	+			UPI0000070D86	564			Cytoplasmic (By similarity).		SNV	SCNN1G,missense_variant,p.Arg564His,ENST00000300061,NM_001039.3;CTC-391G2.1,upstream_gene_variant,,ENST00000563471,;	uc002dlm.1	c.1691G>A	1834/3507	2	2			c.1691G>A						16	SNP	c.(1690-1692)CGC>CAC	47	47			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6	Broad	sodium channel, nonvoltage-gated 1, gamma		Amiloride(DB00594)|Triamterene(DB00384)	23226531		0.587	ENSG00000166828	13711	g.chr16:23226531G>A	excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding							156.866204	KEEP	24	32	-1	51	47	24	32	-1	157.447512	51	47	0.42623	1	0	0	0	0	1	0	0	0	--	--		0	A				13	GBM-06-0126-TP	p.R564H	G	ATTGCCCGCCGCCAGTGGCAG	NM_001039	NP_001030	23226531	P51170	SCNNG_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0366)	13	1830	+	A	A			Missense_Mutation	564			Cytoplasmic (By similarity).			
SCNN1G	6340	broad.mit.edu	GRCh37	16	23226531	23226531	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01	TCGA-06-0155-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300061.2:c.1691G>A	p.Arg564His	p.R564H	ENST00000300061	NM_001039.3	564	cGc/cAc	0			1			A	R/H	uc002dlm.1	protein_coding	YES	CCDS10608.1			1691/1950									ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6	c.(1690-1692)CGC>CAC			hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF19,TIGRFAM_domain:TIGR00859	sodium channel, nonvoltage-gated 1, gamma	Amiloride(DB00594)|Triamterene(DB00384)			ENSP00000300061		13/13	3.29E-05	9.61E-05				1.50E-05		0.000121	rs762732326,COSM258621	13/13	.		ENST00000300061	Transcript	1		excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	ENSG00000166828	g.chr16:23226531G>A	10602			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=SCNNG_HUMAN&rb=554&re=599&var=R564H	NA	getma.org/?cm=var&var=hg19,16,23226531,G,A&fts=all	R564H	--	--	1																																			0,1	1		benign(0.003)	p.R564H	NM_001039	NP_001030		tolerated(0.57)	0,1	SCNNG_HUMAN	SCNN1G	HGNC	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	Q6LCK5_HUMAN,A5X2V1_HUMAN		13	1830	+			UPI0000070D86	564			Cytoplasmic (By similarity).		SNV	SCNN1G,missense_variant,p.Arg564His,ENST00000300061,NM_001039.3;CTC-391G2.1,upstream_gene_variant,,ENST00000563471,;	uc002dlm.1	c.1691G>A	1834/3507	2	2			c.1691G>A						16	SNP	c.(1690-1692)CGC>CAC	47	47			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6	Broad	sodium channel, nonvoltage-gated 1, gamma		Amiloride(DB00594)|Triamterene(DB00384)	23226531		0.587	ENSG00000166828	13711	g.chr16:23226531G>A	excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding							154.250728	KEEP	34	34	-1	55	64	34	34	-1	155.840907	55	64	0.385714	1	0	0	0	0	1	0	0	0	--	--		0	A				27	GBM-06-0155-TP	p.R564H	G	ATTGCCCGCCGCCAGTGGCAG	NM_001039	NP_001030	23226531	P51170	SCNNG_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0366)	13	1830	+	A	A			Missense_Mutation	564			Cytoplasmic (By similarity).			
SCNN1G	6340	broad.mit.edu	GRCh37	16	23226433	23226433	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-2559-01	TCGA-06-2559-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300061.2:c.1593C>A	p.Phe531Leu	p.F531L	ENST00000300061	NM_001039.3	531	ttC/ttA	0			1			A	F/L	uc002dlm.1	protein_coding	YES	CCDS10608.1			1593/1950									ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6	c.(1591-1593)TTC>TTA			Gene3D:1.10.287.770,Pfam_domain:PF00858,Prints_domain:PR01078,hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF19,TIGRFAM_domain:TIGR00859	sodium channel, nonvoltage-gated 1, gamma	Amiloride(DB00594)|Triamterene(DB00384)			ENSP00000300061		13/13									COSM2152663	13/13	.		ENST00000300061	Transcript	1		excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	ENSG00000166828	g.chr16:23226433C>A	10602			MODERATE		0.51	neutral	getma.org/?cm=msa&ty=f&p=SCNNG_HUMAN&rb=32&re=553&var=F531L	getma.org/pdb.php?prot=SCNNG_HUMAN&from=32&to=553&var=F531L	getma.org/?cm=var&var=hg19,16,23226433,C,A&fts=all	F531L	--	--	1																																			1	1		benign(0.077)	p.F531L	NM_001039	NP_001030		tolerated(1)	1	SCNNG_HUMAN	SCNN1G	HGNC	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	Q6LCK5_HUMAN,A5X2V1_HUMAN		13	1732	+			UPI0000070D86	531			Helical; (By similarity).		SNV	SCNN1G,missense_variant,p.Phe531Leu,ENST00000300061,NM_001039.3;CTC-391G2.1,upstream_gene_variant,,ENST00000563471,;	uc002dlm.1	c.1593C>A	1736/3507	2	2			c.1593C>A						16	SNP	c.(1591-1593)TTC>TTA	27	27			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6	Broad	sodium channel, nonvoltage-gated 1, gamma		Amiloride(DB00594)|Triamterene(DB00384)	23226433		0.547	ENSG00000166828	13711	g.chr16:23226433C>A	excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding							127.114197	KEEP	24	19	0.441860465	10	17	24	19	0.441860465	127.87449	10	17	0.615385	1	0	0	0	0	1	0	0	0	--	--		0	A				83	GBM-06-2559-TP	p.F531L	C	TGTCCAACTTCGGTGGCCAGC	NM_001039	NP_001030	23226433	P51170	SCNNG_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0366)	13	1732	+	A	A			Missense_Mutation	531			Helical; (By similarity).			
SCNN1G	0	broad.mit.edu	GRCh37	16	23200784	23200784	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1833-01	TCGA-27-1833-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300061.2:c.410G>A	p.Arg137His	p.R137H	ENST00000300061	NM_001039.3	137	cGc/cAc	0			1			A	R/H	uc002dlm.1	protein_coding	YES	CCDS10608.1			410/1950									ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6	c.(409-411)CGC>CAC			Pfam_domain:PF00858,hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF19,TIGRFAM_domain:TIGR00859	sodium channel, nonvoltage-gated 1, gamma	Amiloride(DB00594)|Triamterene(DB00384)			ENSP00000300061		13-Mar	8.24E-06					1.50E-05			rs752038199,COSM3402185	13-Mar	.		ENST00000300061	Transcript	1		excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	ENSG00000166828	g.chr16:23200784G>A	10602			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=SCNNG_HUMAN&rb=32&re=553&var=R137H	NA	getma.org/?cm=var&var=hg19,16,23200784,G,A&fts=all	R137H	--	--	1																																			0,1	1		possibly_damaging(0.896)	p.R137H	NM_001039	NP_001030		tolerated(0.09)	0,1	SCNNG_HUMAN	SCNN1G	HGNC	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	Q6LCK5_HUMAN,A5X2V1_HUMAN		3	549	+			UPI0000070D86	137			Extracellular (By similarity).		SNV	SCNN1G,missense_variant,p.Arg137His,ENST00000300061,NM_001039.3;	uc002dlm.1	c.410G>A	553/3507	1	1			c.410G>A						16	SNP	c.(409-411)CGC>CAC	59	59			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6	Broad	sodium channel, nonvoltage-gated 1, gamma		Amiloride(DB00594)|Triamterene(DB00384)	23200784		0.577	ENSG00000166828	13711	g.chr16:23200784G>A	excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding							401.384835	KEEP	73	75	-1	89	88	73	75	-1	401.811347	89	88	0.459184	1	0	0	0	0	1	0	0	0	--	--		0	A				192	GBM-27-1833-TP	p.R137H	G	TCCCGGAAGCGCCGAGAGGCG	NM_001039	NP_001030	23200784	P51170	SCNNG_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0366)	3	549	+	A	A			Missense_Mutation	137			Extracellular (By similarity).			
SCUBE1	0	broad.mit.edu	GRCh37	22	43600126	43600126	+	synonymous_variant	Silent	SNP	G	G	A	rs140846155	byFrequency;by1000genomes	TCGA-27-2518-01	TCGA-27-2518-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360835.4:c.2844C>T	p.Asp948=	p.D948=	ENST00000360835	NM_173050.3	948	gaC/gaT	0	A:0.0005	A:0.0008	1	A:0		A	D	uc003bdt.1	protein_coding	YES	CCDS14048.1			2844/2967									central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5	c.(2842-2844)GAC>GAT			hmmpanther:PTHR24046,hmmpanther:PTHR24046:SF4	signal peptide, CUB domain, EGF-like 1		A:0	A:0.0007	ENSP00000354080	A:0.003	22/22	0.00152	0.000481	0.00104		0.000151	0.000706	0.00665	0.00691	rs140846155,COSM3405703	22/22	common_variant		ENST00000360835	Transcript		A:0.0022	adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	ENSG00000159307	g.chr22:43600126G>A	13441			LOW								--	--	1																																			0,1	1			p.D948D	NM_173050	NP_766638	A:0.0072		0,1	SCUB1_HUMAN	SCUBE1	HGNC	Q8IWY4	SCUB1_HUMAN					22	2932	-		all_neural(38;0.0414)|Ovarian(80;0.07)	UPI000020790F	948					SNV	SCUBE1,synonymous_variant,p.=,ENST00000360835,NM_173050.3;	uc003bdt.1	c.2844C>T	2971/9808	2	2			c.2844C>T						22	SNP	c.(2842-2844)GAC>GAT	29	29			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5	Broad	signal peptide, CUB domain, EGF-like 1			43600126		0.572	ENSG00000159307	13724	g.chr22:43600126G>A	adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity							8.440523	KEEP	10	5	-1	82	66	10	5	-1	30.826118	82	66	0.1	1	0	0	0	0	0	0	1	0	--	--		0	A				198	GBM-27-2518-TP	p.D948D	G	GCGCCAGCACGTCGAAGAGGG	NM_173050	NP_766638	43600126	Q8IWY4	SCUB1_HUMAN	0			22	2932	-	A	A		all_neural(38;0.0414)|Ovarian(80;0.07)	Silent	948						
SCUBE1	80274		GRCh37	22	43603579	43603579	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000360835.4:c.2775G>A	p.Gly925=	p.G925=	ENST00000360835	NM_173050.3	925	ggG/ggA	0																																																																																																																																																																																																																																												
SCUBE2	0	broad.mit.edu	GRCh37	11	9074727	9074727	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs77907325		TCGA-12-5299-01	TCGA-12-5299-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000520467.1:c.1366C>T	p.Arg456Cys	p.R456C	ENST00000520467	NM_020974.2	456	Cgt/Tgt	0	A:0	A:0	1	A:0		A	R/C	uc001mhh.1	protein_coding	YES	CCDS7797.2			1366/2916									ovary(1)|skin(1)	2	c.(1366-1368)CGT>TGT			hmmpanther:PTHR24046,hmmpanther:PTHR24046:SF3	CEGP1 protein precursor		A:0.002	A:0.0001	ENSP00000429969	A:0	22-Dec	9.06E-05			0.00104		3.01E-05			rs77907325,COSM2223031,COSM2223032	22-Dec	common_variant		ENST00000520467	Transcript		A:0.0004		extracellular region	calcium ion binding	ENSG00000175356	g.chr11:9074727G>A	30425			MODERATE		0.28	neutral	getma.org/?cm=msa&ty=f&p=H0YEB3_HUMAN&rb=1&re=192&var=R179C	NA	getma.org/?cm=var&var=hg19,11,9074727,G,A&fts=all	R179C	--	--	1																																		SCUBE2_uc001mhi.1_Missense_Mutation_p.R456C|SCUBE2_uc001mhj.1_Intron	0,1,1	1		benign(0.443)	p.R456C	NM_020974	NP_066025	A:0	deleterious(0)	0,1,1	SCUB2_HUMAN	SCUBE2	HGNC	Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)			12	1446	-			UPI0001E5E848	456					SNV	SCUBE2,missense_variant,p.Arg456Cys,ENST00000457346,;SCUBE2,missense_variant,p.Arg456Cys,ENST00000309263,;SCUBE2,missense_variant,p.Arg456Cys,ENST00000520467,NM_020974.2;SCUBE2,missense_variant,p.Arg179Cys,ENST00000519788,;SCUBE2,intron_variant,,ENST00000450649,NM_001170690.1;SCUBE2,downstream_gene_variant,,ENST00000531429,;RP11-467K18.2,intron_variant,,ENST00000531592,;RP11-467K18.2,upstream_gene_variant,,ENST00000521394,;SCUBE2,upstream_gene_variant,,ENST00000530265,;	uc001mhh.1	c.1366C>T	1437/3148	1	1			c.1366C>T						11	SNP	c.(1366-1368)CGT>TGT	55	55			ovary(1)|skin(1)	2	Broad	CEGP1 protein precursor			9074727		0.537	ENSG00000175356	13725	g.chr11:9074727G>A		extracellular region	calcium ion binding							67.376994	KEEP	13	14	-1	19	40	13	14	-1	70.231415	19	40	0.3	1	0	0	0	0	1	0	0	0	--	--		0	A			SCUBE2_uc001mhi.1_Missense_Mutation_p.R456C|SCUBE2_uc001mhj.1_Intron	130	GBM-12-5299-TP	p.R456C	G	AGGGACACACGGGGTGACACA	NM_020974	NP_066025	9074727	Q9NQ36	SCUB2_HUMAN	0		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	12	1446	-	A	A			Missense_Mutation	456						
SCUBE3	222663	broad.mit.edu	GRCh37	6	35210070	35210072	+	inframe_deletion	In_Frame_Del	DEL	GAG	GAG	-			TCGA-06-5856-01	TCGA-06-5856-01	GAG	GAG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274938.7:c.1511_1513del	p.Glu504del	p.E504del	ENST00000274938	NM_152753.2	503	GAG/-	0			1			-	E/-	uc003okf.1	protein_coding	YES	CCDS4800.1			1507-1509/2982									skin(1)	1	c.(1507-1509)GAGdel			hmmpanther:PTHR24046,hmmpanther:PTHR24046:SF2	signal peptide, CUB domain, EGF-like 3				ENSP00000274938		13/22										13/22	.		ENST00000274938	Transcript			protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	ENSG00000146197	g.chr6:35210070_35210072delGAG	13655	4		MODERATE								--	--	1																																		SCUBE3_uc003okg.1_In_Frame_Del_p.E503del|SCUBE3_uc003okh.1_In_Frame_Del_p.E391del		1			p.E504del	NM_152753	NP_689966				SCUB3_HUMAN	SCUBE3	HGNC	Q8IX30	SCUB3_HUMAN			Q7Z3I8_HUMAN		13	1513_1515	+			UPI0000074423	504					deletion	SCUBE3,inframe_deletion,p.Glu504del,ENST00000274938,NM_152753.2;SCUBE3,inframe_deletion,p.Glu520del,ENST00000394681,;	uc003okf.1	c.1507_1509delGAG	1507-1509/7356	5	5			c.1507_1509delGAG						6	DEL	c.(1507-1509)GAGdel	58	58			skin(1)	1	Broad	signal peptide, CUB domain, EGF-like 3			35210072		0.547	ENSG00000146197	13726	g.chr6:35210070_35210072delGAG	protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding																				0.07	1	1	0	1	0	0	0	0	0	--	--		0	-			SCUBE3_uc003okg.1_In_Frame_Del_p.E503del|SCUBE3_uc003okh.1_In_Frame_Del_p.E391del	101	GBM-06-5856-TP	p.E504del	GAG	AGGCAAAACAGAGGAGGCTGGCA	NM_152753	NP_689966	35210070	Q8IX30	SCUB3_HUMAN	0			13	1513_1515	+	-	-			In_Frame_Del	504						
SCYL1	57410	broad.mit.edu	GRCh37	11	65303487	65303487	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01	TCGA-02-0047-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000270176.5:c.1450C>T	p.Arg484Trp	p.R484W	ENST00000270176	NM_020680.3	484	Cgg/Tgg	0			1			T	R/W	uc001oea.1	protein_coding	YES	CCDS41672.1			1450/2427									skin(1)	1	c.(1450-1452)CGG>TGG			Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR12984:SF3,hmmpanther:PTHR12984	SCY1-like 1 isoform A				ENSP00000270176		18-Nov									COSM2149011,COSM2149010	18-Nov	.		ENST00000270176	Transcript			regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	ENSG00000142186	g.chr11:65303487C>T	14372			MODERATE		3.07	medium	getma.org/?cm=msa&ty=f&p=NTKL_HUMAN&rb=450&re=649&var=R484W	NA	getma.org/?cm=var&var=hg19,11,65303487,C,T&fts=all	R484W	--	--	1																																		SCYL1_uc009yqk.2_Missense_Mutation_p.R484W|SCYL1_uc001oeb.1_Missense_Mutation_p.R484W|SCYL1_uc001oec.1_Missense_Mutation_p.R484W|SCYL1_uc001oed.1_Missense_Mutation_p.R341W|SCYL1_uc001oee.1_Missense_Mutation_p.R128W	1,1	1		probably_damaging(0.999)	p.R484W	NM_020680	NP_065731		deleterious(0)	1,1	NTKL_HUMAN	SCYL1	HGNC	Q96KG9	NTKL_HUMAN			E9PPN3_HUMAN		11	1527	+			UPI0000035B94	484					SNV	SCYL1,missense_variant,p.Arg484Trp,ENST00000524944,;SCYL1,missense_variant,p.Arg484Trp,ENST00000270176,NM_020680.3;SCYL1,missense_variant,p.Arg341Trp,ENST00000527009,;SCYL1,missense_variant,p.Arg484Trp,ENST00000525364,;SCYL1,missense_variant,p.Arg484Trp,ENST00000420247,NM_001048218.1;SCYL1,missense_variant,p.Arg484Trp,ENST00000533862,;SCYL1,missense_variant,p.Arg484Trp,ENST00000279270,;LTBP3,downstream_gene_variant,,ENST00000301873,NM_001130144.2;LTBP3,downstream_gene_variant,,ENST00000322147,NM_001164266.1,NM_021070.4;LTBP3,downstream_gene_variant,,ENST00000530866,;LTBP3,downstream_gene_variant,,ENST00000532932,;LTBP3,downstream_gene_variant,,ENST00000536982,;LTBP3,downstream_gene_variant,,ENST00000526927,;LTBP3,downstream_gene_variant,,ENST00000530785,;LTBP3,downstream_gene_variant,,ENST00000529189,;SCYL1,upstream_gene_variant,,ENST00000528545,;LTBP3,downstream_gene_variant,,ENST00000532661,;LTBP3,downstream_gene_variant,,ENST00000529371,;SCYL1,upstream_gene_variant,,ENST00000534462,;SCYL1,missense_variant,p.Arg94Trp,ENST00000531601,;SCYL1,non_coding_transcript_exon_variant,,ENST00000526454,;SCYL1,non_coding_transcript_exon_variant,,ENST00000524897,;SCYL1,non_coding_transcript_exon_variant,,ENST00000529981,;LTBP3,downstream_gene_variant,,ENST00000528516,;LTBP3,downstream_gene_variant,,ENST00000529582,;SCYL1,upstream_gene_variant,,ENST00000532290,;SCYL1,downstream_gene_variant,,ENST00000529178,;LTBP3,downstream_gene_variant,,ENST00000530990,;LTBP3,downstream_gene_variant,,ENST00000526124,;	uc001oea.1	c.1450C>T	1527/2642	2	2			c.1450C>T						11	SNP	c.(1450-1452)CGG>TGG	45	45			skin(1)	1	Broad	SCY1-like 1 isoform A			65303487		0.597	ENSG00000142186	13727	g.chr11:65303487C>T	regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			387			387	189.989444	KEEP	50	33	-1	60	72	50	33	-1	191.244507	60	72	0.402597	1	0	0	0	0	1	0	0	0	--	--		0	T			SCYL1_uc009yqk.2_Missense_Mutation_p.R484W|SCYL1_uc001oeb.1_Missense_Mutation_p.R484W|SCYL1_uc001oec.1_Missense_Mutation_p.R484W|SCYL1_uc001oed.1_Missense_Mutation_p.R341W|SCYL1_uc001oee.1_Missense_Mutation_p.R128W	3	GBM-02-0047-TP	p.R484W	C	TGCACCGTCCCGGGTTGCGGG	NM_020680	NP_065731	65303487	Q96KG9	NTKL_HUMAN	0			11	1527	+	T	T			Missense_Mutation	484						
SCYL2	55681	broad.mit.edu	GRCh37	12	100711649	100711649	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2567-01	TCGA-06-2567-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360820.2:c.1341C>T	p.Asn447=	p.N447=	ENST00000360820	NM_017988.4	447	aaC/aaT	0			1			T	N	uc001thn.2	protein_coding	YES	CCDS9076.1			1341/2790									lung(3)|ovary(2)|skin(1)	6	c.(1339-1341)AAC>AAT			hmmpanther:PTHR12984,hmmpanther:PTHR12984:SF6,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	SCY1-like 2 protein				ENSP00000354061		18-Oct									COSM2153061	18-Oct	.		ENST00000360820	Transcript			endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	ENSG00000136021	g.chr12:100711649C>T	19286			LOW								--	--	1																																		SCYL2_uc009ztw.1_Silent_p.N274N|SCYL2_uc001thm.1_Silent_p.N447N	1	1			p.N447N	NM_017988	NP_060458			1	SCYL2_HUMAN	SCYL2	HGNC	Q6P3W7	SCYL2_HUMAN			F8VSC5_HUMAN,F8VPW3_HUMAN		10	1391	+			UPI000004FD59	447			HEAT.		SNV	SCYL2,synonymous_variant,p.=,ENST00000360820,NM_017988.4;SCYL2,synonymous_variant,p.=,ENST00000549687,;SCYL2,synonymous_variant,p.=,ENST00000550251,;SCYL2,non_coding_transcript_exon_variant,,ENST00000553148,;	uc001thn.2	c.1341C>T	1778/5779	2	2			c.1341C>T						12	SNP	c.(1339-1341)AAC>AAT	36	36			lung(3)|ovary(2)|skin(1)	6	Broad	SCY1-like 2 protein			100711649		0.333	ENSG00000136021	13728	g.chr12:100711649C>T	endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			647			647	138.036277	KEEP	29	24	-1	50	35	29	24	-1	139.672612	50	35	0.379845	1	0	0	0	0	0	0	1	0	--	--		0	T			SCYL2_uc009ztw.1_Silent_p.N274N|SCYL2_uc001thm.1_Silent_p.N447N	89	GBM-06-2567-TP	p.N447N	C	AGATAAAGAACAGTGTTCTAC	NM_017988	NP_060458	100711649	Q6P3W7	SCYL2_HUMAN	0			10	1391	+	T	T			Silent	447			HEAT.			
SCYL2	0	broad.mit.edu	GRCh37	12	100717360	100717360	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-41-2572-01	TCGA-41-2572-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360820.2:c.1453A>C	p.Lys485Gln	p.K485Q	ENST00000360820	NM_017988.4	485	Aaa/Caa	0			1			C	K/Q	uc001thn.2	protein_coding	YES	CCDS9076.1			1453/2790									lung(3)|ovary(2)|skin(1)	6	c.(1453-1455)AAA>CAA			hmmpanther:PTHR12984,hmmpanther:PTHR12984:SF6,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	SCY1-like 2 protein				ENSP00000354061		18-Nov									COSM3398239	18-Nov	.		ENST00000360820	Transcript			endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	ENSG00000136021	g.chr12:100717360A>C	19286			MODERATE		1.92	medium	getma.org/?cm=msa&ty=f&p=SCYL2_HUMAN&rb=328&re=527&var=K485Q	NA	getma.org/?cm=var&var=hg19,12,100717360,A,C&fts=all	K485Q	--	--	1																																		SCYL2_uc009ztw.1_Missense_Mutation_p.K312Q|SCYL2_uc001thm.1_Missense_Mutation_p.K485Q	1	1		possibly_damaging(0.847)	p.K485Q	NM_017988	NP_060458		deleterious(0)	1	SCYL2_HUMAN	SCYL2	HGNC	Q6P3W7	SCYL2_HUMAN			F8VSC5_HUMAN,F8VPW3_HUMAN		11	1503	+			UPI000004FD59	485					SNV	SCYL2,missense_variant,p.Lys485Gln,ENST00000360820,NM_017988.4;SCYL2,missense_variant,p.Lys485Gln,ENST00000549687,;SCYL2,3_prime_UTR_variant,,ENST00000550251,;SCYL2,non_coding_transcript_exon_variant,,ENST00000553148,;SCYL2,upstream_gene_variant,,ENST00000548871,;	uc001thn.2	c.1453A>C	1890/5779	4	4			c.1453A>C						12	SNP	c.(1453-1455)AAA>CAA	41	41			lung(3)|ovary(2)|skin(1)	6	Broad	SCY1-like 2 protein			100717360		0.318	ENSG00000136021	13728	g.chr12:100717360A>C	endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			647			647	113.6668	KEEP	16	20	-1	37	53	16	20	-1	116.952103	37	53	0.31068	1	0	0	0	0	1	0	0	0	--	--		0	C			SCYL2_uc009ztw.1_Missense_Mutation_p.K312Q|SCYL2_uc001thm.1_Missense_Mutation_p.K485Q	251	GBM-41-2572-TP	p.K485Q	A	CCCATCCATGAAAAACGCTTT	NM_017988	NP_060458	100717360	Q6P3W7	SCYL2_HUMAN	0			11	1503	+	C	C			Missense_Mutation	485						
SCYL3	0	broad.mit.edu	GRCh37	1	169833511	169833511	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-19-5947-01	TCGA-19-5947-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367770.1:c.954delA	p.Asp319IlefsTer20	p.D319Ifs*20	ENST00000367770		318	aaA/aa	0			1			-	K/X	uc001ggs.2	protein_coding		CCDS1287.1			954/2229									ovary(1)|skin(1)	2	c.(952-954)AAAfs			Gene3D:1.25.10.10,hmmpanther:PTHR12984,hmmpanther:PTHR12984:SF13,Superfamily_domains:SSF48371	SCY1-like 3 isoform 2				ENSP00000356744		13-Aug										13-Aug	.		ENST00000367770	Transcript			cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	ENSG00000000457	g.chr1:169833511delT	19285			HIGH								--	--	1																																		SCYL3_uc010plw.1_5'UTR|SCYL3_uc001ggt.2_Frame_Shift_Del_p.K318fs|SCYL3_uc001ggu.2_RNA					p.K318fs	NM_181093	NP_851607				PACE1_HUMAN	SCYL3	HGNC	Q8IZE3	PACE1_HUMAN					9	1152	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		UPI00001AE580	318			HEAT 2.		deletion	SCYL3,frameshift_variant,p.Asp319IlefsTer20,ENST00000367771,NM_020423.6;SCYL3,frameshift_variant,p.Asp319IlefsTer20,ENST00000367772,NM_181093.3;SCYL3,frameshift_variant,p.Asp319IlefsTer20,ENST00000367770,;SCYL3,frameshift_variant,p.Asp319IlefsTer20,ENST00000423670,;RN7SL333P,downstream_gene_variant,,ENST00000476398,;SCYL3,splice_region_variant,,ENST00000470238,;	uc001ggs.2	c.954delA	1002/2916	5	5			c.954delA						1	DEL	c.(952-954)AAAfs	45	45			ovary(1)|skin(1)	2	Broad	SCY1-like 3 isoform 2			169833511		0.393	ENSG00000000457	13729	g.chr1:169833511delT	cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			1996			1996														0.03	1	1	0	1	0	0	0	0	0	--	--		0	-			SCYL3_uc010plw.1_5'UTR|SCYL3_uc001ggt.2_Frame_Shift_Del_p.K318fs|SCYL3_uc001ggu.2_RNA	169	GBM-19-5947-TP	p.K318fs	T	AGCATTCACCTTTTTTGGGGC	NM_181093	NP_851607	169833511	Q8IZE3	PACE1_HUMAN	0			9	1152	-	-	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		Frame_Shift_Del	318			HEAT 2.			
SDC1	0	broad.mit.edu	GRCh37	2	20403674	20403674	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-5950-01	TCGA-19-5950-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254351.4:c.527A>G	p.His176Arg	p.H176R	ENST00000254351	NM_002997.4	176	cAc/cGc	0			1			C	H/R	uc002rdo.1	protein_coding		CCDS1697.1			527/933									ovary(4)|skin(1)	5	c.(526-528)CAC>CGC			hmmpanther:PTHR10915,hmmpanther:PTHR10915:SF5	syndecan 1 precursor				ENSP00000254351		5-Mar									COSM2156547	5-Mar	.		ENST00000254351	Transcript			lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding	ENSG00000115884	g.chr2:20403674T>C	10658			MODERATE		1.95	medium	getma.org/?cm=msa&ty=f&p=SDC1_HUMAN&rb=3&re=308&var=H176R	NA	getma.org/?cm=var&var=hg19,2,20403674,T,C&fts=all	H176R	--	--	1																																		SDC1_uc002rdp.1_Missense_Mutation_p.H176R|SDC1_uc010exv.2_Intron	1			benign(0.025)	p.H176R	NM_002997	NP_002988		tolerated(0.08)	1	SDC1_HUMAN	SDC1	HGNC	P18827	SDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.221)			3	826	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		UPI000013CE2D	176			Extracellular (Potential).		SNV	SDC1,missense_variant,p.His176Arg,ENST00000381150,NM_001006946.1;SDC1,missense_variant,p.His176Arg,ENST00000254351,NM_002997.4;SDC1,missense_variant,p.His184Arg,ENST00000429035,;SDC1,intron_variant,,ENST00000403076,;SDC1,intron_variant,,ENST00000482879,;SDC1,downstream_gene_variant,,ENST00000447124,;	uc002rdo.1	c.527A>G	772/3147	3	3			c.527A>G						2	SNP	c.(526-528)CAC>CGC	7	7			ovary(4)|skin(1)	5	Broad	syndecan 1 precursor			20403674		0.662	ENSG00000115884	13731	g.chr2:20403674T>C	lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding							133.878575	KEEP	19	27	-1	46	22	19	27	-1	134.708335	46	22	0.40566	1	0	0	0	0	1	0	0	0	--	--		0	C			SDC1_uc002rdp.1_Missense_Mutation_p.H176R|SDC1_uc010exv.2_Intron	170	GBM-19-5950-TP	p.H176R	T	GTGGGGAGTGTGAAGGTCAGC	NM_002997	NP_002988	20403674	P18827	SDC1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(76;0.221)	3	826	-	C	C	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Missense_Mutation	176			Extracellular (Potential).			
SDC2	6383	broad.mit.edu	GRCh37	8	97614730	97614730	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-2558-01	TCGA-06-2558-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302190.4:c.280C>G	p.Gln94Glu	p.Q94E	ENST00000302190	NM_002998.3	94	Cag/Gag	0			1			G	Q/E	uc003yhv.1	protein_coding	YES	CCDS6272.1			280/606									ovary(2)	2	c.(280-282)CAG>GAG			hmmpanther:PTHR10915:SF6,hmmpanther:PTHR10915	syndecan 2 precursor	Sargramostim(DB00020)			ENSP00000307046		5-Mar									COSM2152635	5-Mar	.		ENST00000302190	Transcript				integral to plasma membrane	cytoskeletal protein binding|PDZ domain binding	ENSG00000169439	g.chr8:97614730C>G	10659			MODERATE		1.78	low	getma.org/?cm=msa&ty=f&p=SDC2_HUMAN&rb=1&re=135&var=Q94E	NA	getma.org/?cm=var&var=hg19,8,97614730,C,G&fts=all	Q94E	--	--	1																																		SDC2_uc011lgu.1_Missense_Mutation_p.Q65E	1	1		benign(0.307)	p.Q94E	NM_002998	NP_002989		tolerated(0.19)	1	SDC2_HUMAN	SDC2	HGNC	P34741	SDC2_HUMAN			E5RJB8_HUMAN,E9PBI9_HUMAN,E5RHU3_HUMAN,B4DT61_HUMAN		3	898	+	Breast(36;3.41e-05)		UPI000013E7A4	94			Extracellular (Potential).		SNV	SDC2,missense_variant,p.Gln94Glu,ENST00000302190,NM_002998.3;SDC2,missense_variant,p.Gln58Glu,ENST00000518385,;SDC2,missense_variant,p.Gln65Glu,ENST00000519914,;SDC2,missense_variant,p.Gln65Glu,ENST00000522911,;SDC2,missense_variant,p.Gln65Glu,ENST00000523877,;SDC2,missense_variant,p.Gln65Glu,ENST00000521590,;	uc003yhv.1	c.280C>G	1201/3751	3	3			c.280C>G						8	SNP	c.(280-282)CAG>GAG	7	7			ovary(2)	2	Broad	syndecan 2 precursor		Sargramostim(DB00020)	97614730		0.423	ENSG00000169439	13732	g.chr8:97614730C>G		integral to plasma membrane	cytoskeletal protein binding|PDZ domain binding							170.094897	KEEP	21	33	-1	62	59	21	33	-1	174.692724	62	59	0.318471	1	0	0	0	0	1	0	0	0	--	--		0	G			SDC2_uc011lgu.1_Missense_Mutation_p.Q65E	82	GBM-06-2558-TP	p.Q94E	C	GCTGAATATACAGAACAAGAT	NM_002998	NP_002989	97614730	P34741	SDC2_HUMAN	0			3	898	+	G	G	Breast(36;3.41e-05)		Missense_Mutation	94			Extracellular (Potential).			
SDC4	6385	broad.mit.edu	GRCh37	20	43977015	43977016	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0173-01	TCGA-06-0173-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372733.3:c.9dup	p.Ala4ArgfsTer22	p.A4Rfs*22	ENST00000372733	NM_002999.3	3	-/C	0			1			G	-/X	uc002xnu.2	protein_coding	YES	CCDS13350.1			9-10/597										0	c.(7-12)CCCGCCfs			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10915	syndecan 4 precursor				ENSP00000361818		5-Jan										5-Jan	.		ENST00000372733	Transcript				extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity	ENSG00000124145	g.chr20:43977015_43977016insG	10661			HIGH								--	--	1																																		SDC4_uc010zws.1_5'UTR		1			p.P3fs	NM_002999	NP_002990				SDC4_HUMAN	SDC4	HGNC	P31431	SDC4_HUMAN			B4E1S6_HUMAN		1	49_50	-		Myeloproliferative disorder(115;0.0122)	UPI000003B45C	3_4					insertion	SDC4,frameshift_variant,p.Ala4ArgfsTer22,ENST00000372733,NM_002999.3;SDC4,5_prime_UTR_variant,,ENST00000537976,;	uc002xnu.2	c.9_10insC	49-50/2613	5	5			c.9_10insC						20	INS	c.(7-12)CCCGCCfs	62	62				0	Broad	syndecan 4 precursor			43977016		0.708	ENSG00000124145	13734	g.chr20:43977015_43977016insG		extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity																				0.36	1	0	0	1	1	0	0	0	0	--	--		0	G			SDC4_uc010zws.1_5'UTR	36	GBM-06-0173-TP	p.P3fs	-	AACAGACGGGCGGGGGCCATGG	NM_002999	NP_002990	43977015	P31431	SDC4_HUMAN	0			1	49_50	-	G	G		Myeloproliferative disorder(115;0.0122)	Frame_Shift_Ins	3_4						
SDCBP	6386	broad.mit.edu	GRCh37	8	59492353	59492353	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A			TCGA-06-0876-01	TCGA-06-0876-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260130.4:c.750G>A		p.X250_splice	ENST00000260130	NM_001007068.1	250	aaG/aaA	0			1			A	K	uc003xtn.2	protein_coding	YES	CCDS6172.1			750/897										0	c.(748-750)AAG>AAA			Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR12345,hmmpanther:PTHR12345:SF10,SMART_domains:SM00228,Superfamily_domains:SSF50156	syntenin isoform 1				ENSP00000260130		9-Jul									COSM2152086	9-Jul	.		ENST00000260130	Transcript			actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding	ENSG00000137575	g.chr8:59492353G>A	10662			LOW								--	--	1																																		SDCBP_uc003xto.2_Silent_p.K249K|SDCBP_uc003xtr.2_Silent_p.K249K|SDCBP_uc003xtp.2_Silent_p.K244K|SDCBP_uc003xtq.2_Silent_p.K250K|SDCBP_uc003xts.2_Silent_p.K256K|SDCBP_uc011led.1_Silent_p.K191K	1	1			p.K250K	NM_005625	NP_005616			1	SDCB1_HUMAN	SDCBP	HGNC	O00560	SDCB1_HUMAN					7	900	+		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	UPI000013570E	250			PDZ 2.		SNV	SDCBP,splice_region_variant,p.=,ENST00000523483,;SDCBP,splice_region_variant,p.=,ENST00000260130,NM_001007068.1,NM_005625.3,NM_001007069.1;SDCBP,splice_region_variant,p.=,ENST00000422546,NM_001007067.1,NM_001007070.1;SDCBP,splice_region_variant,p.=,ENST00000447182,;SDCBP,splice_region_variant,p.=,ENST00000413219,;SDCBP,splice_region_variant,p.=,ENST00000424270,;SDCBP,splice_region_variant,p.=,ENST00000520168,;SDCBP,splice_region_variant,p.=,ENST00000447267,;NSMAF,downstream_gene_variant,,ENST00000038176,NM_003580.3;NSMAF,downstream_gene_variant,,ENST00000427130,NM_001144772.1;SDCBP,non_coding_transcript_exon_variant,,ENST00000523441,;NSMAF,downstream_gene_variant,,ENST00000521972,;SDCBP,downstream_gene_variant,,ENST00000519115,;SDCBP,downstream_gene_variant,,ENST00000522843,;SDCBP,downstream_gene_variant,,ENST00000520228,;	uc003xtn.2	c.750G>A	900/2167	1	1			c.750G>A						8	SNP	c.(748-750)AAG>AAA	64	64				0	Broad	syntenin isoform 1			59492353		0.398	ENSG00000137575	13735	g.chr8:59492353G>A	actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding							182.018861	KEEP	44	20	-1	78	38	44	20	-1	184.997553	78	38	0.355828	1	0	0	0	0	0	0	1	0	--	--		0	A			SDCBP_uc003xto.2_Silent_p.K249K|SDCBP_uc003xtr.2_Silent_p.K249K|SDCBP_uc003xtp.2_Silent_p.K244K|SDCBP_uc003xtq.2_Silent_p.K250K|SDCBP_uc003xts.2_Silent_p.K256K|SDCBP_uc011led.1_Silent_p.K191K	72	GBM-06-0876-TP	p.K250K	G	TTGGATTGAAGGTAAGGAACA	NM_005625	NP_005616	59492353	O00560	SDCB1_HUMAN	0			7	900	+	A	A		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	Silent	250			PDZ 2.			
SDCCAG3	0	broad.mit.edu	GRCh37	9	139299619	139299619	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-41-5651-01	TCGA-41-5651-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357365.3:c.929T>C	p.Met310Thr	p.M310T	ENST00000357365	NM_001039707.1	310	aTg/aCg	0	G:0		1			G	M/T	uc004chi.2	protein_coding	YES	CCDS43904.1			929/1308										0	c.(928-930)ATG>ACG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31259	serologically defined colon cancer antigen 3			G:0.0001	ENSP00000349929		10-Jul									rs376328321,COSM3413461	10-Jul	.		ENST00000357365	Transcript				cytoplasm		ENSG00000165689	g.chr9:139299619A>G	10667			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=SDCG3_HUMAN&rb=1&re=359&var=M310T	NA	getma.org/?cm=var&var=hg19,9,139299619,A,G&fts=all	M310T	--	--	1																																		SDCCAG3_uc004chj.2_Missense_Mutation_p.M287T|SDCCAG3_uc004chk.2_Missense_Mutation_p.M237T	0,1	1		possibly_damaging(0.503)	p.M310T	NM_001039707	NP_001034796		tolerated(0.09)	0,1	SDCG3_HUMAN	SDCCAG3	HGNC	Q96C92	SDCG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)			7	1134	-		Myeloproliferative disorder(178;0.0511)	UPI00006C511A	310			Potential.		SNV	SDCCAG3,missense_variant,p.Met287Thr,ENST00000298537,NM_006643.3;SDCCAG3,missense_variant,p.Met310Thr,ENST00000357365,NM_001039707.1;SDCCAG3,missense_variant,p.Met237Thr,ENST00000371725,NM_001039708.1;SDCCAG3,missense_variant,p.Met51Thr,ENST00000417512,;SDCCAG3,downstream_gene_variant,,ENST00000371723,;SDCCAG3,downstream_gene_variant,,ENST00000446833,;SDCCAG3,non_coding_transcript_exon_variant,,ENST00000461693,;SDCCAG3,non_coding_transcript_exon_variant,,ENST00000486441,;SDCCAG3,downstream_gene_variant,,ENST00000468963,;SDCCAG3,upstream_gene_variant,,ENST00000466579,;SDCCAG3,upstream_gene_variant,,ENST00000481114,;	uc004chi.2	c.929T>C	1059/2301	3	3			c.929T>C						9	SNP	c.(928-930)ATG>ACG	62	62				0	Broad	serologically defined colon cancer antigen 3			139299619		0.463	ENSG00000165689	13738	g.chr9:139299619A>G		cytoplasm								119.344004	KEEP	22	22	-1	30	42	22	22	-1	120.600319	30	42	0.38	1	0	0	0	0	1	0	0	0	--	--		0	G			SDCCAG3_uc004chj.2_Missense_Mutation_p.M287T|SDCCAG3_uc004chk.2_Missense_Mutation_p.M237T	258	GBM-41-5651-TP	p.M310T	A	CTCCTTGATCATTTTTGCTTC	NM_001039707	NP_001034796	139299619	Q96C92	SDCG3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)	7	1134	-	G	G		Myeloproliferative disorder(178;0.0511)	Missense_Mutation	310			Potential.			
SDCCAG8	0	broad.mit.edu	GRCh37	1	243507526	243507526	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-14-1456-01	TCGA-14-1456-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366541.3:c.1366G>C	p.Glu456Gln	p.E456Q	ENST00000366541	NM_006642.3	456	Gaa/Caa	0			1			C	E/Q	uc001hzw.2	protein_coding	YES	CCDS31075.1			1366/2142										0	c.(1366-1368)GAA>CAA			Coiled-coils_(Ncoils):Coil	serologically defined colon cancer antigen 8				ENSP00000355499		18-Dec									COSM2155613	18-Dec	.		ENST00000366541	Transcript	1		establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	ENSG00000054282	g.chr1:243507526G>C	10671			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=SDCG8_HUMAN&rb=361&re=459&var=E456Q	NA	getma.org/?cm=var&var=hg19,1,243507526,G,C&fts=all	E456Q	--	--	1																																		SDCCAG8_uc010pyk.1_Missense_Mutation_p.E311Q|SDCCAG8_uc010pyl.1_Missense_Mutation_p.E268Q|SDCCAG8_uc001hzx.2_Missense_Mutation_p.E268Q	1	1		probably_damaging(0.996)	p.E456Q	NM_006642	NP_006633		deleterious(0)	1	SDCG8_HUMAN	SDCCAG8	HGNC	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	A6NCS9_HUMAN		12	1522	+	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	UPI000000D77E	456			Potential.|Sufficient for homodimerization (By similarity).		SNV	SDCCAG8,missense_variant,p.Glu456Gln,ENST00000366541,NM_006642.3;SDCCAG8,missense_variant,p.Glu413Gln,ENST00000355875,;SDCCAG8,missense_variant,p.Glu311Gln,ENST00000343783,;SDCCAG8,missense_variant,p.Glu236Gln,ENST00000435549,;MIR4677,upstream_gene_variant,,ENST00000584153,;SDCCAG8,non_coding_transcript_exon_variant,,ENST00000493334,;	uc001hzw.2	c.1366G>C	1484/2567	3	3			c.1366G>C						1	SNP	c.(1366-1368)GAA>CAA	13	13				0	Broad	serologically defined colon cancer antigen 8			243507526		0.423	ENSG00000054282	13739	g.chr1:243507526G>C	establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			7			7	56.354769	KEEP	8	11	-1	22	19	8	11	-1	58.002648	22	19	0.314815	1	0	0	0	0	1	0	0	0	--	--		0	C			SDCCAG8_uc010pyk.1_Missense_Mutation_p.E311Q|SDCCAG8_uc010pyl.1_Missense_Mutation_p.E268Q|SDCCAG8_uc001hzx.2_Missense_Mutation_p.E268Q	146	GBM-14-1456-TP	p.E456Q	G	GGTGTGTGGAGAAATGCGCTA	NM_006642	NP_006633	243507526	Q86SQ7	SDCG8_HUMAN	0	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	12	1522	+	C	C	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	Missense_Mutation	456			Potential.|Sufficient for homodimerization (By similarity).			
SDK1	221935	broad.mit.edu	GRCh37	7	4011107	4011107	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0209-01	TCGA-06-0209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000404826.2:c.1724C>A	p.Ser575Tyr	p.S575Y	ENST00000404826	NM_152744.3	575	tCc/tAc	0			1			A	S/Y	uc003smx.2	protein_coding	YES	CCDS34590.1			1724/6642									large_intestine(3)|ovary(2)|skin(1)	6	c.(1723-1725)TCC>TAC			Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36	sidekick 1 precursor				ENSP00000385899		Dec-45									COSM3412031	Dec-45	.		ENST00000404826	Transcript			cell adhesion	integral to membrane		ENSG00000146555	g.chr7:4011107C>A	19307			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=SDK1_HUMAN&rb=574&re=664&var=S575Y	getma.org/pdb.php?prot=SDK1_HUMAN&from=574&to=664&var=S575Y	getma.org/?cm=var&var=hg19,7,4011107,C,A&fts=all	S575Y	--	--	1																																			1	1		benign(0.148)	p.S575Y	NM_152744	NP_689957		tolerated(0.82)	1	SDK1_HUMAN	SDK1	HGNC	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)			12	1863	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	UPI0000DBEEC4	575			Ig-like C2-type 6.		SNV	SDK1,missense_variant,p.Ser575Tyr,ENST00000404826,NM_152744.3;SDK1,missense_variant,p.Ser575Tyr,ENST00000389531,;SDK1,non_coding_transcript_exon_variant,,ENST00000484011,;	uc003smx.2	c.1724C>A	1863/10397	1	1			c.1724C>A						7	SNP	c.(1723-1725)TCC>TAC	56	56			large_intestine(3)|ovary(2)|skin(1)	6	Broad	sidekick 1 precursor			4011107		0.552	ENSG00000146555	13748	g.chr7:4011107C>A	cell adhesion	integral to membrane								0.527715	KEEP	5	1	0.166666667	32	29	5	1	0.166666667	10.592766	32	29	0.086207	1	0	0	0	0	1	0	0	0	--	--		0	A				46	GBM-06-0209-TP	p.S575Y	C	GATCGGACGTCCATCGTCCAC	NM_152744	NP_689957	4011107	Q7Z5N4	SDK1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	12	1863	+	A	A		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	Missense_Mutation	575			Ig-like C2-type 6.			
SDK1	221935	broad.mit.edu	GRCh37	7	4153059	4153059	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-2569-01	TCGA-06-2569-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000404826.2:c.3573G>T	p.Arg1191=	p.R1191=	ENST00000404826	NM_152744.3	1191	cgG/cgT	0			1			T	R	uc003smx.2	protein_coding	YES	CCDS34590.1			3573/6642									large_intestine(3)|ovary(2)|skin(1)	6	c.(3571-3573)CGG>CGT			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,SMART_domains:SM00060,Superfamily_domains:SSF49265	sidekick 1 precursor				ENSP00000385899		24/45									COSM3412041	24/45	.		ENST00000404826	Transcript			cell adhesion	integral to membrane		ENSG00000146555	g.chr7:4153059G>T	19307			LOW								--	--	1																																		SDK1_uc010kso.2_Silent_p.R467R	1	1			p.R1191R	NM_152744	NP_689957			1	SDK1_HUMAN	SDK1	HGNC	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)			24	3712	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	UPI0000DBEEC4	1191			Fibronectin type-III 6.		SNV	SDK1,synonymous_variant,p.=,ENST00000404826,NM_152744.3;SDK1,synonymous_variant,p.=,ENST00000389531,;	uc003smx.2	c.3573G>T	3712/10397	2	2			c.3573G>T						7	SNP	c.(3571-3573)CGG>CGT	20	20			large_intestine(3)|ovary(2)|skin(1)	6	Broad	sidekick 1 precursor			4153059		0.637	ENSG00000146555	13748	g.chr7:4153059G>T	cell adhesion	integral to membrane								-18.238461	KEEP	7	8	0.466666667	110	123	7	8	0.466666667	16.416519	110	123	0.049689	1	0	0	0	0	0	0	1	0	--	--		0	T			SDK1_uc010kso.2_Silent_p.R467R	90	GBM-06-2569-TP	p.R1191R	G	CCAGCCTGCGGCTTCGCTGGG	NM_152744	NP_689957	4153059	Q7Z5N4	SDK1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	24	3712	+	T	T		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	Silent	1191			Fibronectin type-III 6.			
SDK1	221935	broad.mit.edu	GRCh37	7	4091337	4091337	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000404826.2:c.2786G>A	p.Gly929Glu	p.G929E	ENST00000404826	NM_152744.3	929	gGa/gAa	0			1			A	G/E	uc003smx.2	protein_coding	YES	CCDS34590.1			2786/6642									large_intestine(3)|ovary(2)|skin(1)	6	c.(2785-2787)GGA>GAA			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,SMART_domains:SM00060,Superfamily_domains:SSF49265	sidekick 1 precursor				ENSP00000385899		19/45	1.65E-05					3.00E-05			rs758889848,COSM3412039	19/45	.		ENST00000404826	Transcript			cell adhesion	integral to membrane		ENSG00000146555	g.chr7:4091337G>A	19307			MODERATE		0.57	neutral	getma.org/?cm=msa&ty=f&p=SDK1_HUMAN&rb=871&re=960&var=G929E	getma.org/pdb.php?prot=SDK1_HUMAN&from=871&to=960&var=G929E	getma.org/?cm=var&var=hg19,7,4091337,G,A&fts=all	G929E	--	--	1																																		SDK1_uc010kso.2_Missense_Mutation_p.G205E	0,1	1		benign(0.058)	p.G929E	NM_152744	NP_689957		deleterious(0.04)	0,1	SDK1_HUMAN	SDK1	HGNC	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)			19	2925	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	UPI0000DBEEC4	929			Fibronectin type-III 3.		SNV	SDK1,missense_variant,p.Gly929Glu,ENST00000404826,NM_152744.3;SDK1,missense_variant,p.Gly929Glu,ENST00000389531,;	uc003smx.2	c.2786G>A	2925/10397	2	2			c.2786G>A						7	SNP	c.(2785-2787)GGA>GAA	48	48			large_intestine(3)|ovary(2)|skin(1)	6	Broad	sidekick 1 precursor			4091337		0.567	ENSG00000146555	13748	g.chr7:4091337G>A	cell adhesion	integral to membrane								-9.711589	KEEP	11	10	-1	123	166	11	10	-1	43.00633	123	166	0.071685	1	0	0	0	0	1	0	0	0	--	--		0	A			SDK1_uc010kso.2_Missense_Mutation_p.G205E	102	GBM-06-5858-TP	p.G929E	G	GATTTCCACGGAGTCCACCAT	NM_152744	NP_689957	4091337	Q7Z5N4	SDK1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	19	2925	+	A	A		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	Missense_Mutation	929			Fibronectin type-III 3.			
SDK1	221935	broad.mit.edu	GRCh37	7	4153898	4153898	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6388-01	TCGA-06-6388-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000404826.2:c.3815G>A	p.Arg1272Gln	p.R1272Q	ENST00000404826	NM_152744.3	1272	cGg/cAg	0			1			A	R/Q	uc003smx.2	protein_coding	YES	CCDS34590.1			3815/6642									large_intestine(3)|ovary(2)|skin(1)	6	c.(3814-3816)CGG>CAG			Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,Superfamily_domains:SSF49265	sidekick 1 precursor				ENSP00000385899		25/45	8.26E-06					2.81E-05			rs758245711,COSM1240147	25/45	.		ENST00000404826	Transcript			cell adhesion	integral to membrane		ENSG00000146555	g.chr7:4153898G>A	19307			MODERATE		1.205	low	getma.org/?cm=msa&ty=f&p=SDK1_HUMAN&rb=1235&re=1307&var=R1272Q	getma.org/pdb.php?prot=SDK1_HUMAN&from=1265&to=1277&var=R1272Q	getma.org/?cm=var&var=hg19,7,4153898,G,A&fts=all	R1272Q	--	--	1																																		SDK1_uc010kso.2_Missense_Mutation_p.R548Q	0,1	1		possibly_damaging(0.671)	p.R1272Q	NM_152744	NP_689957		deleterious(0.01)	0,1	SDK1_HUMAN	SDK1	HGNC	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)			25	3954	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	UPI0000DBEEC4	1272					SNV	SDK1,missense_variant,p.Arg1272Gln,ENST00000404826,NM_152744.3;SDK1,missense_variant,p.Arg1272Gln,ENST00000389531,;	uc003smx.2	c.3815G>A	3954/10397	2	2			c.3815G>A						7	SNP	c.(3814-3816)CGG>CAG	46	46			large_intestine(3)|ovary(2)|skin(1)	6	Broad	sidekick 1 precursor			4153898		0.652	ENSG00000146555	13748	g.chr7:4153898G>A	cell adhesion	integral to membrane								26.801095	KEEP	4	4	-1	2	5	4	4	-1	26.815592	2	5	0.533333	1	0	0	0	0	1	0	0	0	--	--		0	A			SDK1_uc010kso.2_Missense_Mutation_p.R548Q	104	GBM-06-6388-TP	p.R1272Q	G	GGCCGGACGCGGGAGTCAGGT	NM_152744	NP_689957	4153898	Q7Z5N4	SDK1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	25	3954	+	A	A		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	Missense_Mutation	1272						
SDK1	0	broad.mit.edu	GRCh37	7	4169639	4169639	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000404826.2:c.4039G>A	p.Val1347Met	p.V1347M	ENST00000404826	NM_152744.3	1347	Gtg/Atg	0			1			A	V/M	uc003smx.2	protein_coding	YES	CCDS34590.1			4039/6642									large_intestine(3)|ovary(2)|skin(1)	6	c.(4039-4041)GTG>ATG			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,SMART_domains:SM00060,Superfamily_domains:SSF49265	sidekick 1 precursor				ENSP00000385899		27/45									COSM169410	27/45	.		ENST00000404826	Transcript			cell adhesion	integral to membrane		ENSG00000146555	g.chr7:4169639G>A	19307			MODERATE		1.195	low	getma.org/?cm=msa&ty=f&p=SDK1_HUMAN&rb=1278&re=1365&var=V1347M	getma.org/pdb.php?prot=SDK1_HUMAN&from=1278&to=1365&var=V1347M	getma.org/?cm=var&var=hg19,7,4169639,G,A&fts=all	V1347M	--	--	1																																		SDK1_uc010kso.2_Missense_Mutation_p.V623M|SDK1_uc003smy.2_Translation_Start_Site	1	1		possibly_damaging(0.792)	p.V1347M	NM_152744	NP_689957		deleterious(0)	1	SDK1_HUMAN	SDK1	HGNC	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)			27	4178	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	UPI0000DBEEC4	1347			Fibronectin type-III 7.		SNV	SDK1,missense_variant,p.Val1347Met,ENST00000404826,NM_152744.3;SDK1,missense_variant,p.Val1347Met,ENST00000389531,;SDK1,non_coding_transcript_exon_variant,,ENST00000476701,;	uc003smx.2	c.4039G>A	4178/10397	2	2			c.4039G>A						7	SNP	c.(4039-4041)GTG>ATG	39	39			large_intestine(3)|ovary(2)|skin(1)	6	Broad	sidekick 1 precursor			4169639		0.657	ENSG00000146555	13748	g.chr7:4169639G>A	cell adhesion	integral to membrane								64.099798	KEEP	12	16	-1	48	38	12	16	-1	70.362325	48	38	0.245283	1	0	0	0	0	1	0	0	0	--	--		0	A			SDK1_uc010kso.2_Missense_Mutation_p.V623M|SDK1_uc003smy.2_Translation_Start_Site	120	GBM-12-0619-TP	p.V1347M	G	GCGCAAGTTCGTGCTCTACGA	NM_152744	NP_689957	4169639	Q7Z5N4	SDK1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	27	4178	+	A	A		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	Missense_Mutation	1347			Fibronectin type-III 7.			
SDK1	0	broad.mit.edu	GRCh37	7	4116751	4116751	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-5299-01	TCGA-12-5299-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000404826.2:c.3132C>T	p.Asp1044=	p.D1044=	ENST00000404826	NM_152744.3	1044	gaC/gaT	0			1			T	D	uc003smx.2	protein_coding	YES	CCDS34590.1			3132/6642									large_intestine(3)|ovary(2)|skin(1)	6	c.(3130-3132)GAC>GAT			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,SMART_domains:SM00060,Superfamily_domains:SSF49265	sidekick 1 precursor				ENSP00000385899		21/45	2.47E-05			0.000116				0.000121	rs775327604,COSM3412040	21/45	.		ENST00000404826	Transcript			cell adhesion	integral to membrane		ENSG00000146555	g.chr7:4116751C>T	19307			LOW								--	--	1																																		SDK1_uc010kso.2_Silent_p.D320D	0,1	1			p.D1044D	NM_152744	NP_689957			0,1	SDK1_HUMAN	SDK1	HGNC	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)			21	3271	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	UPI0000DBEEC4	1044			Fibronectin type-III 4.		SNV	SDK1,synonymous_variant,p.=,ENST00000404826,NM_152744.3;SDK1,synonymous_variant,p.=,ENST00000389531,;	uc003smx.2	c.3132C>T	3271/10397	2	2			c.3132C>T						7	SNP	c.(3130-3132)GAC>GAT	25	25			large_intestine(3)|ovary(2)|skin(1)	6	Broad	sidekick 1 precursor			4116751		0.587	ENSG00000146555	13748	g.chr7:4116751C>T	cell adhesion	integral to membrane								72.849457	KEEP	19	22	-1	87	76	19	22	-1	86.076205	87	76	0.208333	1	0	0	0	0	0	0	1	0	--	--		0	T			SDK1_uc010kso.2_Silent_p.D320D	130	GBM-12-5299-TP	p.D1044D	C	ACACCATCGACGTGGCCGCTG	NM_152744	NP_689957	4116751	Q7Z5N4	SDK1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	21	3271	+	T	T		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	Silent	1044			Fibronectin type-III 4.			
SDK1	0	broad.mit.edu	GRCh37	7	4009042	4009042	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs145189416		TCGA-19-2623-01	TCGA-19-2623-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000404826.2:c.1700C>T	p.Thr567Met	p.T567M	ENST00000404826	NM_152744.3	567	aCg/aTg	0	T:0.0002	T:0.0008	1	T:0		T	T/M	uc003smx.2	protein_coding	YES	CCDS34590.1			1700/6642									large_intestine(3)|ovary(2)|skin(1)	6	c.(1699-1701)ACG>ATG			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,SMART_domains:SM00409,Superfamily_domains:SSF48726	sidekick 1 precursor		T:0.001	T:0.0002	ENSP00000385899	T:0	Nov-45	9.06E-05	0.000196		0.000233		9.17E-05		6.90E-05	rs145189416,COSM1287790	Nov-45	.		ENST00000404826	Transcript		T:0.0004	cell adhesion	integral to membrane		ENSG00000146555	g.chr7:4009042C>T	19307			MODERATE		1.52	low	getma.org/?cm=msa&ty=f&p=SDK1_HUMAN&rb=480&re=570&var=T567M	getma.org/pdb.php?prot=SDK1_HUMAN&from=480&to=570&var=T567M	getma.org/?cm=var&var=hg19,7,4009042,C,T&fts=all	T567M	--	--	1																																			0,1	1		benign(0.028)	p.T567M	NM_152744	NP_689957	T:0	tolerated(0.24)	0,1	SDK1_HUMAN	SDK1	HGNC	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)			11	1839	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	UPI0000DBEEC4	567			Ig-like C2-type 5.		SNV	SDK1,missense_variant,p.Thr567Met,ENST00000404826,NM_152744.3;SDK1,missense_variant,p.Thr567Met,ENST00000389531,;SDK1,upstream_gene_variant,,ENST00000484011,;	uc003smx.2	c.1700C>T	1839/10397	2	2			c.1700C>T						7	SNP	c.(1699-1701)ACG>ATG	21	21			large_intestine(3)|ovary(2)|skin(1)	6	Broad	sidekick 1 precursor			4009042		0.587	ENSG00000146555	13748	g.chr7:4009042C>T	cell adhesion	integral to membrane								143.547851	KEEP	33	25	-1	110	87	33	25	-1	159.491275	110	87	0.231405	1	0	0	0	0	1	0	0	0	--	--		0	T				163	GBM-19-2623-TP	p.T567M	C	GCATCGGCCACGCTCACTGTG	NM_152744	NP_689957	4009042	Q7Z5N4	SDK1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	11	1839	+	T	T		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	Missense_Mutation	567			Ig-like C2-type 5.			
SDK1	0	broad.mit.edu	GRCh37	7	4050700	4050700	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01	TCGA-27-1831-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000404826.2:c.2234C>T	p.Ala745Val	p.A745V	ENST00000404826	NM_152744.3	745	gCg/gTg	0			1			T	A/V	uc003smx.2	protein_coding	YES	CCDS34590.1			2234/6642									large_intestine(3)|ovary(2)|skin(1)	6	c.(2233-2235)GCG>GTG			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,SMART_domains:SM00060,Superfamily_domains:SSF49265	sidekick 1 precursor				ENSP00000385899		15/45	1.65E-05					1.51E-05		6.10E-05	rs776052768,COSM1265114	15/45	.		ENST00000404826	Transcript			cell adhesion	integral to membrane		ENSG00000146555	g.chr7:4050700C>T	19307			MODERATE		4.015	high	getma.org/?cm=msa&ty=f&p=SDK1_HUMAN&rb=669&re=755&var=A745V	getma.org/pdb.php?prot=SDK1_HUMAN&from=669&to=755&var=A745V	getma.org/?cm=var&var=hg19,7,4050700,C,T&fts=all	A745V	--	--	1																																		SDK1_uc010kso.2_Missense_Mutation_p.A21V	0,1	1		probably_damaging(0.989)	p.A745V	NM_152744	NP_689957		deleterious(0)	0,1	SDK1_HUMAN	SDK1	HGNC	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)			15	2373	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	UPI0000DBEEC4	745			Fibronectin type-III 1.		SNV	SDK1,missense_variant,p.Ala745Val,ENST00000404826,NM_152744.3;SDK1,missense_variant,p.Ala745Val,ENST00000389531,;	uc003smx.2	c.2234C>T	2373/10397	2	2			c.2234C>T						7	SNP	c.(2233-2235)GCG>GTG	29	29			large_intestine(3)|ovary(2)|skin(1)	6	Broad	sidekick 1 precursor			4050700		0.622	ENSG00000146555	13748	g.chr7:4050700C>T	cell adhesion	integral to membrane								38.206481	KEEP	7	9	-1	17	24	7	9	-1	40.140387	17	24	0.294118	1	0	0	0	0	1	0	0	0	--	--		0	T			SDK1_uc010kso.2_Missense_Mutation_p.A21V	190	GBM-27-1831-TP	p.A745V	C	CGGGTGTGCGCGGTGAATGAA	NM_152744	NP_689957	4050700	Q7Z5N4	SDK1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	15	2373	+	T	T		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	Missense_Mutation	745			Fibronectin type-III 1.			
SDK1	0	broad.mit.edu	GRCh37	7	4215452	4215452	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-27-2527-01	TCGA-27-2527-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000404826.2:c.4982T>C	p.Met1661Thr	p.M1661T	ENST00000404826	NM_152744.3	1661	aTg/aCg	0			1			C	M/T	uc003smx.2	protein_coding	YES	CCDS34590.1			4982/6642									large_intestine(3)|ovary(2)|skin(1)	6	c.(4981-4983)ATG>ACG			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,SMART_domains:SM00060,Superfamily_domains:SSF49265	sidekick 1 precursor				ENSP00000385899		34/45	1.65E-05							0.000121	rs775329904,COSM3412047	34/45	.		ENST00000404826	Transcript			cell adhesion	integral to membrane		ENSG00000146555	g.chr7:4215452T>C	19307			MODERATE		-1.555	neutral	getma.org/?cm=msa&ty=f&p=SDK1_HUMAN&rb=1580&re=1689&var=M1661T	getma.org/pdb.php?prot=SDK1_HUMAN&from=1580&to=1689&var=M1661T	getma.org/?cm=var&var=hg19,7,4215452,T,C&fts=all	M1661T	--	--	1																																		SDK1_uc010kso.2_Intron|SDK1_uc003smy.2_Missense_Mutation_p.M148T	0,1	1		benign(0)	p.M1661T	NM_152744	NP_689957		tolerated(0.8)	0,1	SDK1_HUMAN	SDK1	HGNC	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)			34	5121	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	UPI0000DBEEC4	1661			Fibronectin type-III 10.		SNV	SDK1,missense_variant,p.Met1661Thr,ENST00000404826,NM_152744.3;SDK1,intron_variant,,ENST00000389531,;SDK1,non_coding_transcript_exon_variant,,ENST00000481856,;SDK1,non_coding_transcript_exon_variant,,ENST00000476701,;	uc003smx.2	c.4982T>C	5121/10397	4	4			c.4982T>C						7	SNP	c.(4981-4983)ATG>ACG	43	43			large_intestine(3)|ovary(2)|skin(1)	6	Broad	sidekick 1 precursor			4215452		0.582	ENSG00000146555	13748	g.chr7:4215452T>C	cell adhesion	integral to membrane								10.878694	KEEP	10	8	-1	72	86	10	8	-1	36.457119	72	86	0.1	1	0	0	0	0	1	0	0	0	--	--		0	C			SDK1_uc010kso.2_Intron|SDK1_uc003smy.2_Missense_Mutation_p.M148T	204	GBM-27-2527-TP	p.M1661T	T	ACATCGACGATGTGTGAACTA	NM_152744	NP_689957	4215452	Q7Z5N4	SDK1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	34	5121	+	C	C		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	Missense_Mutation	1661			Fibronectin type-III 10.			
SDK1	0	broad.mit.edu	GRCh37	7	4011129	4011129	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-28-5220-01	TCGA-28-5220-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000404826.2:c.1746C>A	p.Asp582Glu	p.D582E	ENST00000404826	NM_152744.3	582	gaC/gaA	0			1			A	D/E	uc003smx.2	protein_coding	YES	CCDS34590.1			1746/6642									large_intestine(3)|ovary(2)|skin(1)	6	c.(1744-1746)GAC>GAA			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,SMART_domains:SM00409,Superfamily_domains:SSF48726	sidekick 1 precursor				ENSP00000385899		Dec-45									COSM3412032	Dec-45	.		ENST00000404826	Transcript			cell adhesion	integral to membrane		ENSG00000146555	g.chr7:4011129C>A	19307			MODERATE		2.64	medium	getma.org/?cm=msa&ty=f&p=SDK1_HUMAN&rb=574&re=664&var=D582E	getma.org/pdb.php?prot=SDK1_HUMAN&from=574&to=664&var=D582E	getma.org/?cm=var&var=hg19,7,4011129,C,A&fts=all	D582E	--	--	1																																			1	1		possibly_damaging(0.8)	p.D582E	NM_152744	NP_689957		deleterious(0)	1	SDK1_HUMAN	SDK1	HGNC	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)			12	1885	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	UPI0000DBEEC4	582			Ig-like C2-type 6.		SNV	SDK1,missense_variant,p.Asp582Glu,ENST00000404826,NM_152744.3;SDK1,missense_variant,p.Asp582Glu,ENST00000389531,;SDK1,non_coding_transcript_exon_variant,,ENST00000484011,;	uc003smx.2	c.1746C>A	1885/10397	2	2			c.1746C>A						7	SNP	c.(1744-1746)GAC>GAA	48	48			large_intestine(3)|ovary(2)|skin(1)	6	Broad	sidekick 1 precursor			4011129		0.542	ENSG00000146555	13748	g.chr7:4011129C>A	cell adhesion	integral to membrane								78.630617	KEEP	7	27	0.794117647	48	37	7	27	0.794117647	83.205815	48	37	0.278846	1	0	0	0	0	1	0	0	0	--	--		0	A				226	GBM-28-5220-TP	p.D582E	C	CTCCTGAGGACCACGTGGTGA	NM_152744	NP_689957	4011129	Q7Z5N4	SDK1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	12	1885	+	A	A		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	Missense_Mutation	582			Ig-like C2-type 6.			
SDK1	221935		GRCh37	7	4050626	4050626	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000404826.2:c.2160C>T	p.Asn720=	p.N720=	ENST00000404826	NM_152744.3	720	aaC/aaT	0																																																																																																																																																																																																																																												
SDK1	221935		GRCh37	7	4050739	4050739	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000404826.2:c.2273C>A	p.Thr758Lys	p.T758K	ENST00000404826	NM_152744.3	758	aCa/aAa	0																																																																																																																																																																																																																																												
SDK1	221935		GRCh37	7	4189057	4189057	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000404826.2:c.4587G>A	p.Ser1529=	p.S1529=	ENST00000404826	NM_152744.3	1529	tcG/tcA	0																																																																																																																																																																																																																																												
SDK2	0	broad.mit.edu	GRCh37	17	71426663	71426663	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs147877604		TCGA-12-0619-01	TCGA-12-0619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392650.3:c.1570C>T	p.Arg524Ter	p.R524*	ENST00000392650	NM_001144952.1	524	Cga/Tga	0			1			A	R/*	uc010dfm.2	protein_coding	YES	CCDS45769.1			1570/6519									ovary(2)	2	c.(1570-1572)CGA>TGA			PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF37,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	sidekick 2				ENSP00000376421		Dec-45									COSM3403181	Dec-45	.		ENST00000392650	Transcript			cell adhesion	integral to membrane		ENSG00000069188	g.chr17:71426663G>A	19308			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,17,71426663,G,A&fts=all	R524*	--	--	1																																		SDK2_uc010dfn.2_Nonsense_Mutation_p.R203*	1	1			p.R524*	NM_001144952	NP_001138424			1	SDK2_HUMAN	SDK2	HGNC	Q58EX2	SDK2_HUMAN					12	1570	-			UPI0000E5A088	524			Extracellular (Potential).|Ig-like C2-type 6.		SNV	SDK2,stop_gained,p.Arg524Ter,ENST00000392650,NM_001144952.1;SDK2,stop_gained,p.Arg524Ter,ENST00000388726,;SDK2,non_coding_transcript_exon_variant,,ENST00000479356,;	uc010dfm.2	c.1570C>T	1571/10723	5	2			c.1570C>T						17	SNP	c.(1570-1572)CGA>TGA	25	25			ovary(2)	2	Broad	sidekick 2			71426663		0.602	ENSG00000069188	13749	g.chr17:71426663G>A	cell adhesion	integral to membrane								-3.996188	KEEP	1	3	-1	30	31	1	3	-1	6.928461	30	31	0.056604	1	0	0	0	0	0	1	0	0	--	--		0	A			SDK2_uc010dfn.2_Nonsense_Mutation_p.R203*	120	GBM-12-0619-TP	p.R524*	G	ATGGTTACTCGGGGGTCGTGG	NM_001144952	NP_001138424	71426663	Q58EX2	SDK2_HUMAN	0			12	1570	-	A	A			Nonsense_Mutation	524			Extracellular (Potential).|Ig-like C2-type 6.			
SDK2	0	broad.mit.edu	GRCh37	17	71418469	71418469	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01	TCGA-19-2620-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392650.3:c.2002G>A	p.Val668Ile	p.V668I	ENST00000392650	NM_001144952.1	668	Gtc/Atc	0			1			T	V/I	uc010dfm.2	protein_coding	YES	CCDS45769.1			2002/6519									ovary(2)	2	c.(2002-2004)GTC>ATC			PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF37,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265	sidekick 2				ENSP00000376421		15/45	8.24E-05	0.000481	8.64E-05	0.000347				6.06E-05	rs754435436,COSM2976833	15/45	common_variant		ENST00000392650	Transcript			cell adhesion	integral to membrane		ENSG00000069188	g.chr17:71418469C>T	19308			MODERATE		1.925	medium	getma.org/?cm=msa&ty=f&p=SDK2_HUMAN&rb=592&re=677&var=V668I	getma.org/pdb.php?prot=SDK2_HUMAN&from=592&to=677&var=V668I	getma.org/?cm=var&var=hg19,17,71418469,C,T&fts=all	V668I	--	--	1																																		SDK2_uc010dfn.2_Missense_Mutation_p.V347I	0,1	1		possibly_damaging(0.529)	p.V668I	NM_001144952	NP_001138424		deleterious(0.01)	0,1	SDK2_HUMAN	SDK2	HGNC	Q58EX2	SDK2_HUMAN					15	2002	-			UPI0000E5A088	668			Extracellular (Potential).|Fibronectin type-III 1.		SNV	SDK2,missense_variant,p.Val668Ile,ENST00000392650,NM_001144952.1;SDK2,missense_variant,p.Val668Ile,ENST00000388726,;SDK2,non_coding_transcript_exon_variant,,ENST00000479356,;	uc010dfm.2	c.2002G>A	2003/10723	1	1			c.2002G>A						17	SNP	c.(2002-2004)GTC>ATC	5	5			ovary(2)	2	Broad	sidekick 2			71418469		0.617	ENSG00000069188	13749	g.chr17:71418469C>T	cell adhesion	integral to membrane								114.525402	KEEP	28	13	-1	52	27	28	13	-1	116.840831	52	27	0.350427	1	0	0	0	0	1	0	0	0	--	--		0	T			SDK2_uc010dfn.2_Missense_Mutation_p.V347I	162	GBM-19-2620-TP	p.V668I	C	ACGTCGTTGACGGCACAAAGA	NM_001144952	NP_001138424	71418469	Q58EX2	SDK2_HUMAN	0			15	2002	-	T	T			Missense_Mutation	668			Extracellular (Potential).|Fibronectin type-III 1.			
SDPR	0	broad.mit.edu	GRCh37	2	192711627	192711627	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01	TCGA-06-0214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304141.4:c.25G>A	p.Glu9Lys	p.E9K	ENST00000304141	NM_004657.5	9	Gaa/Aaa	0		T:0	1	T:0		T	E/K	uc002utb.2	protein_coding	YES	CCDS2313.1			25/1278									ovary(1)|pancreas(1)	2	c.(25-27)GAA>AAA			hmmpanther:PTHR15240:SF1,hmmpanther:PTHR15240	serum deprivation response protein	Phosphatidylserine(DB00144)	T:0		ENSP00000305675	T:0	2-Jan	9.88E-05							0.000835	rs563544542,COSM3407438	2-Jan	common_variant		ENST00000304141	Transcript		T:0.0002		caveola|cytosol	phosphatidylserine binding|protein binding	ENSG00000168497	g.chr2:192711627C>T	10690			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=SDPR_HUMAN&rb=2&re=422&var=E9K	NA	getma.org/?cm=var&var=hg19,2,192711627,C,T&fts=all	E9K	--	--	1																																			0,1	1		possibly_damaging(0.551)	p.E9K	NM_004657	NP_004648	T:0.001	deleterious_low_confidence(0.01)	0,1	SDPR_HUMAN	SDPR	HGNC	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)				1	355	-			UPI00000373C3	9					SNV	SDPR,missense_variant,p.Glu9Lys,ENST00000304141,NM_004657.5;AC098617.1,intron_variant,,ENST00000424116,;	uc002utb.2	c.25G>A	355/3229	1	1			c.25G>A						2	SNP	c.(25-27)GAA>AAA	16	16			ovary(1)|pancreas(1)	2	Broad	serum deprivation response protein		Phosphatidylserine(DB00144)	192711627		0.612	ENSG00000168497	13750	g.chr2:192711627C>T		caveola|cytosol	phosphatidylserine binding|protein binding							-5.120713	KEEP	6	6	-1	85	75	6	6	-1	19.795089	85	75	0.069231	1	0	0	0	0	1	0	0	0	--	--		0	T				50	GBM-06-0214-TP	p.E9K	C	TGGAACTTTTCGGCCTGTGCA	NM_004657	NP_004648	192711627	O95810	SDPR_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		1	355	-	T	T			Missense_Mutation	9						
SDPR	0	broad.mit.edu	GRCh37	2	192711596	192711596	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01	TCGA-06-0939-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304141.4:c.56G>A	p.Arg19Gln	p.R19Q	ENST00000304141	NM_004657.5	19	cGg/cAg	0	T:0		1			T	R/Q	uc002utb.2	protein_coding	YES	CCDS2313.1			56/1278									ovary(1)|pancreas(1)	2	c.(55-57)CGG>CAG			hmmpanther:PTHR15240:SF1,hmmpanther:PTHR15240	serum deprivation response protein	Phosphatidylserine(DB00144)		T:0.0001	ENSP00000305675		2-Jan	4.12E-05					7.53E-05			rs371428159,COSM3407437	2-Jan	.		ENST00000304141	Transcript				caveola|cytosol	phosphatidylserine binding|protein binding	ENSG00000168497	g.chr2:192711596C>T	10690			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=SDPR_HUMAN&rb=2&re=422&var=R19Q	NA	getma.org/?cm=var&var=hg19,2,192711596,C,T&fts=all	R19Q	--	--	1																																			0,1	1		benign(0.007)	p.R19Q	NM_004657	NP_004648		tolerated(0.34)	0,1	SDPR_HUMAN	SDPR	HGNC	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)				1	386	-			UPI00000373C3	19					SNV	SDPR,missense_variant,p.Arg19Gln,ENST00000304141,NM_004657.5;AC098617.1,intron_variant,,ENST00000424116,;	uc002utb.2	c.56G>A	386/3229	2	2			c.56G>A						2	SNP	c.(55-57)CGG>CAG	20	20			ovary(1)|pancreas(1)	2	Broad	serum deprivation response protein		Phosphatidylserine(DB00144)	192711596		0.607	ENSG00000168497	13750	g.chr2:192711596C>T		caveola|cytosol	phosphatidylserine binding|protein binding							-23.61026	KEEP	5	1	-1	67	89	5	1	-1	7.758184	67	89	0.030769	1	0	0	0	0	1	0	0	0	--	--		0	T				78	GBM-06-0939-TP	p.R19Q	C	CTTTTCCTGCCGCATGTCAGA	NM_004657	NP_004648	192711596	O95810	SDPR_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		1	386	-	T	T			Missense_Mutation	19						
SDPR	0	broad.mit.edu	GRCh37	2	192711670	192711670	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A			TCGA-14-0781-01	TCGA-14-0781-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304141.4:c.-19C>T		*7*	ENST00000304141	NM_004657.5			0			1			A		uc002utb.2	protein_coding	YES	CCDS2313.1			-/1278									ovary(1)|pancreas(1)	2	c.(-20--16)AACGT>AATGT				serum deprivation response protein	Phosphatidylserine(DB00144)			ENSP00000305675		2-Jan										2-Jan	.		ENST00000304141	Transcript				caveola|cytosol	phosphatidylserine binding|protein binding	ENSG00000168497	g.chr2:192711670G>A	10690			MODIFIER								--	--	1																																				1				NM_004657	NP_004648				SDPR_HUMAN	SDPR	HGNC	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)				1	312	-			UPI00000373C3						SNV	SDPR,5_prime_UTR_variant,,ENST00000304141,NM_004657.5;AC098617.1,intron_variant,,ENST00000424116,;	uc002utb.2	c.-18C>T	312/3229	2	2			c.-18C>T						2	SNP	c.(-20--16)AACGT>AATGT	33	33			ovary(1)|pancreas(1)	2	Broad	serum deprivation response protein		Phosphatidylserine(DB00144)	192711670		0.617	ENSG00000168497	13750	g.chr2:192711670G>A		caveola|cytosol	phosphatidylserine binding|protein binding							-3.380723	KEEP	4	1	-1	42	34	4	1	-1	10.137434	42	34	0.070423	1	0	0	0	0	0	0	0	0	--	--		0	A				133	GBM-14-0781-TP		G	AGGTGGGAACGTTCTTTCTCT	NM_004657	NP_004648	192711670	O95810	SDPR_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		1	312	-	A	A			Translation_Start_Site							
SDR42E1	0	broad.mit.edu	GRCh37	16	82033639	82033639	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328945.5:c.259C>T	p.Arg87Trp	p.R87W	ENST00000328945	NM_145168.2	87	Cgg/Tgg	0		C:0.0023	1	C:0		A	R/W	uc002fgu.2	protein_coding	YES	CCDS42205.1			259/1182										0	c.(259-261)CGG>TGG			Gene3D:3.40.50.720,Pfam_domain:PF01073,hmmpanther:PTHR10366,hmmpanther:PTHR10366:SF317,Superfamily_domains:SSF51735	short chain dehydrogenase/reductase family 42E,		C:0		ENSP00000332407	C:0	3-Mar	8.27E-05			0.000927		1.50E-05		6.06E-05	rs572676726,COSM3402512	3-Mar	common_variant		ENST00000328945	Transcript		C:0.0006	steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding	ENSG00000184860	g.chr16:82033639G>A	29834			MODERATE		1.48	low	getma.org/?cm=msa&ty=f&p=D42E1_HUMAN&rb=12&re=284&var=R87W	getma.org/pdb.php?prot=D42E1_HUMAN&from=12&to=284&var=R87W	getma.org/?cm=var&var=hg19,16,82033639,G,A&fts=all	R87W	--	--	1																																			0,1	1		benign(0.017)	p.R87W	NM_145168	NP_660151	C:0	deleterious(0.04)	0,1	D42E1_HUMAN	SDR42E1	HGNC	Q8WUS8	D42E1_HUMAN					3	387	-			UPI000003F552	87					SNV	SDR42E1,missense_variant,p.Arg87Trp,ENST00000328945,NM_145168.2;SDR42E1,missense_variant,p.Arg84Trp,ENST00000532128,;SDR42E1,non_coding_transcript_exon_variant,,ENST00000534209,;	uc002fgu.2	c.259C>T	387/2805	2	2			c.259C>T						16	SNP	c.(259-261)CGG>TGG	47	47				0	Broad	short chain dehydrogenase/reductase family 42E,			82033639		0.498	ENSG00000184860	13753	g.chr16:82033639G>A	steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding							115.778583	KEEP	15	28	-1	35	39	15	28	-1	117.01791	35	39	0.387387	1	0	0	0	0	1	0	0	0	--	--		0	A				177	GBM-19-5959-TP	p.R87W	G	AGTTGCTCCCGCCCTGACATA	NM_145168	NP_660151	82033639	Q8WUS8	D42E1_HUMAN	0			3	387	-	A	A			Missense_Mutation	87						
SDR9C7	121214	broad.mit.edu	GRCh37	12	57328041	57328041	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01	TCGA-06-0174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000293502.1:c.5C>T	p.Ala2Val	p.A2V	ENST00000293502	NM_148897.2	2	gCg/gTg	0			1			A	A/V	uc010sqw.1	protein_coding	YES	CCDS8926.1			5/942									central_nervous_system(1)	1	c.(4-6)GCG>GTG			hmmpanther:PTHR24316,hmmpanther:PTHR24316:SF276	short chain dehydrogenase/reductase family 9C,				ENSP00000293502		4-Jan	1.65E-05					3.06E-05			rs777876093,COSM1512580	4-Jan	.		ENST00000293502	Transcript				cytoplasm	binding|oxidoreductase activity	ENSG00000170426	g.chr12:57328041G>A	29958			MODERATE		-0.115	neutral	getma.org/?cm=msa&ty=f&p=DR9C7_HUMAN&rb=1&re=55&var=A2V	NA	getma.org/?cm=var&var=hg19,12,57328041,G,A&fts=all	A2V	--	--	1																																			0,1	1		benign(0.006)	p.A2V	NM_148897	NP_683695		tolerated(0.44)	0,1	DR9C7_HUMAN	SDR9C7	HGNC	Q8NEX9	DR9C7_HUMAN					1	5	-			UPI0000046169	2					SNV	SDR9C7,missense_variant,p.Ala2Val,ENST00000293502,NM_148897.2;	uc010sqw.1	c.5C>T	149/1765	1	1			c.5C>T						12	SNP	c.(4-6)GCG>GTG	53	53			central_nervous_system(1)	1	Broad	short chain dehydrogenase/reductase family 9C,			57328041		0.542	ENSG00000170426	13754	g.chr12:57328041G>A		cytoplasm	binding|oxidoreductase activity							-4.919705	KEEP	2	2	-1	52	55	2	2	-1	6.303057	52	55	0.055556	1	0	0	0	0	1	0	0	0	--	--		0	A				37	GBM-06-0174-TP	p.A2V	G	TGTGAGGGCCGCCATAGGGCA	NM_148897	NP_683695	57328041	Q8NEX9	DR9C7_HUMAN	0			1	5	-	A	A			Missense_Mutation	2						
SDR9C7	0	broad.mit.edu	GRCh37	12	57324008	57324008	+	splice_donor_variant	Splice_Site	SNP	A	A	G			TCGA-41-3915-01	TCGA-41-3915-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000293502.1:c.560+2T>C		p.X187_splice	ENST00000293502	NM_148897.2			0			1			G		uc010sqw.1	protein_coding	YES	CCDS8926.1			560/942									central_nervous_system(1)	1	c.e2+1				short chain dehydrogenase/reductase family 9C,				ENSP00000293502											COSM3398914		.		ENST00000293502	Transcript				cytoplasm	binding|oxidoreductase activity	ENSG00000170426	g.chr12:57324008A>G	29958			HIGH	3-Feb							--	--	1																																			1	1			p.R187_splice	NM_148897	NP_683695			1	DR9C7_HUMAN	SDR9C7	HGNC	Q8NEX9	DR9C7_HUMAN					2	560	-			UPI0000046169						SNV	SDR9C7,splice_donor_variant,,ENST00000293502,NM_148897.2;	uc010sqw.1	c.560_splice	-/1765	5	3			c.560_splice						12	SNP	c.e2+1	62	62			central_nervous_system(1)	1	Broad	short chain dehydrogenase/reductase family 9C,			57324008		0.537	ENSG00000170426	13754	g.chr12:57324008A>G		cytoplasm	binding|oxidoreductase activity							-51.077262	KEEP	5	3	-1	120	165	5	3	-1	15.180975	120	165	0.026217	1	0	0	0	0	0	0	0	1	--	--		0	G				256	GBM-41-3915-TP	p.R187_splice	A	GGGCCCAGTTACCTTATGCTG	NM_148897	NP_683695	57324008	Q8NEX9	DR9C7_HUMAN	0			2	560	-	G	G			Splice_Site							
SEC11A	0	broad.mit.edu	GRCh37	15	85234816	85234816	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-1456-01	TCGA-14-1456-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268220.7:c.111G>A	p.Lys37=	p.K37=	ENST00000268220	NM_014300.3	37	aaG/aaA	0			1			T	K	uc002blb.1	protein_coding	YES	CCDS45340.1			111/540									ovary(1)	1	c.(109-111)AAG>AAA			hmmpanther:PTHR10806,hmmpanther:PTHR10806:SF5,Superfamily_domains:SSF51306,TIGRFAM_domain:TIGR02228,Transmembrane_helices:TMhelix	SEC11-like 1				ENSP00000268220		6-Feb									COSM3401970	6-Feb	.		ENST00000268220	Transcript			energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	protein binding|serine-type peptidase activity	ENSG00000140612	g.chr15:85234816C>T	17718			LOW								--	--	1																																		SEC11A_uc002blc.1_Silent_p.K11K	1	1			p.K37K	NM_014300	NP_055115			1	SC11A_HUMAN	SEC11A	HGNC	P67812	SC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.199)		H0YNX5_HUMAN,B4DUL4_HUMAN		2	479	-			UPI0000049B6F	37			Lumenal (Potential).		SNV	SEC11A,synonymous_variant,p.=,ENST00000268220,NM_014300.3;SEC11A,synonymous_variant,p.=,ENST00000455959,NM_001271918.1;SEC11A,synonymous_variant,p.=,ENST00000560266,NM_001271920.1;SEC11A,synonymous_variant,p.=,ENST00000558134,NM_001271922.1;SEC11A,synonymous_variant,p.=,ENST00000558217,NM_001271919.1;SEC11A,synonymous_variant,p.=,ENST00000558196,;SEC11A,synonymous_variant,p.=,ENST00000559729,;RP11-245C17.2,downstream_gene_variant,,ENST00000558044,;SEC11A,synonymous_variant,p.=,ENST00000560409,;	uc002blb.1	c.111G>A	752/1656	1	1			c.111G>A						15	SNP	c.(109-111)AAG>AAA	11	11			ovary(1)	1	Broad	SEC11-like 1			85234816		0.408	ENSG00000140612	13758	g.chr15:85234816C>T	energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	protein binding|serine-type peptidase activity							52.950795	KEEP	10	13	-1	34	47	10	13	-1	59.149739	34	47	0.224719	1	0	0	0	0	0	0	1	0	--	--		0	T			SEC11A_uc002blc.1_Silent_p.K11K	146	GBM-14-1456-TP	p.K37K	C	CCATTAACCCCTTCCAGATCA	NM_014300	NP_055115	85234816	P67812	SC11A_HUMAN	0	BRCA - Breast invasive adenocarcinoma(143;0.199)		2	479	-	T	T			Silent	37			Lumenal (Potential).			
SEC14L3	266629	broad.mit.edu	GRCh37	22	30857619	30857619	+	synonymous_variant	Silent	SNP	G	G	A	rs139964800	byFrequency	TCGA-06-2557-01	TCGA-06-2557-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000215812.4:c.834C>T	p.Tyr278=	p.Y278=	ENST00000215812	NM_174975.4	278	taC/taT	0	A:0.0005	A:0	1	A:0		A	Y	uc003ahy.2	protein_coding	YES	CCDS13877.1			834/1203									ovary(3)|pancreas(1)|skin(1)	5	c.(832-834)TAC>TAT			PROSITE_profiles:PS50866,hmmpanther:PTHR23324:SF62,hmmpanther:PTHR23324,Gene3D:3.40.525.10,Superfamily_domains:0041713	SEC14-like 3	Vitamin E(DB00163)	A:0	A:0.0002	ENSP00000215812	A:0.003	12-Oct	0.00189	0.0002			0.0158	0.00112	0.00686	0.00281	rs139964800,COSM2152571,COSM3405588	12-Oct	common_variant		ENST00000215812	Transcript		A:0.0014		integral to membrane|intracellular	lipid binding|transporter activity	ENSG00000100012	g.chr22:30857619G>A	18655			LOW								--	--	1																																		SEC14L3_uc003ahz.2_Silent_p.Y201Y|SEC14L3_uc003aia.2_Silent_p.Y219Y|SEC14L3_uc003aib.2_Silent_p.Y219Y	0,1,1	1			p.Y278Y	NM_174975	NP_777635	A:0.0041		0,1,1	S14L3_HUMAN	SEC14L3	HGNC	Q9UDX4	S14L3_HUMAN					10	923	-			UPI000000D83C	278			GOLD.		SNV	SEC14L3,synonymous_variant,p.=,ENST00000403066,;SEC14L3,synonymous_variant,p.=,ENST00000415957,;SEC14L3,synonymous_variant,p.=,ENST00000215812,NM_174975.4;SEC14L3,synonymous_variant,p.=,ENST00000402286,NM_001257378.1;SEC14L3,synonymous_variant,p.=,ENST00000539629,NM_001257382.1;SEC14L3,synonymous_variant,p.=,ENST00000540910,;SEC14L3,synonymous_variant,p.=,ENST00000401751,NM_001257379.1;SEC14L3,downstream_gene_variant,,ENST00000435069,;SEC14L3,3_prime_UTR_variant,,ENST00000434642,;	uc003ahy.2	c.834C>T	925/2086	2	2			c.834C>T						22	SNP	c.(832-834)TAC>TAT	32	32			ovary(3)|pancreas(1)|skin(1)	5	Broad	SEC14-like 3		Vitamin E(DB00163)	30857619		0.517	ENSG00000100012	13763	g.chr22:30857619G>A		integral to membrane|intracellular	lipid binding|transporter activity	Esophageal Squamous(108;290 1516 3584 23771 37333)			Esophageal Squamous(108;290 1516 3584 23771 37333)			17.907382	KEEP	4	5	-1	17	12	4	5	-1	20.069973	17	12	0.235294	1	0	0	0	0	0	0	1	0	--	--		0	A			SEC14L3_uc003ahz.2_Silent_p.Y201Y|SEC14L3_uc003aia.2_Silent_p.Y219Y|SEC14L3_uc003aib.2_Silent_p.Y219Y	81	GBM-06-2557-TP	p.Y278Y	G	CCGAGTGCTCGTACTGAGTCT	NM_174975	NP_777635	30857619	Q9UDX4	S14L3_HUMAN	0			10	923	-	A	A			Silent	278			GOLD.			
SEC14L3	0	broad.mit.edu	GRCh37	22	30856050	30856050	+	synonymous_variant	Silent	SNP	G	G	A	rs116181219	by1000genomes	TCGA-41-5651-01	TCGA-41-5651-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000215812.4:c.1161C>T	p.Asp387=	p.D387=	ENST00000215812	NM_174975.4	387	gaC/gaT	0		A:0	1	A:0		A	D	uc003ahy.2	protein_coding	YES	CCDS13877.1			1161/1203									ovary(3)|pancreas(1)|skin(1)	5	c.(1159-1161)GAC>GAT			hmmpanther:PTHR23324:SF62,hmmpanther:PTHR23324,Superfamily_domains:0041713	SEC14-like 3	Vitamin E(DB00163)	A:0		ENSP00000215812	A:0.001	12-Dec	2.47E-05					4.50E-05			rs116181219,COSM3405587	12-Dec	.		ENST00000215812	Transcript		A:0.0002		integral to membrane|intracellular	lipid binding|transporter activity	ENSG00000100012	g.chr22:30856050G>A	18655			LOW								--	--	1																																		SEC14L3_uc003ahz.2_Silent_p.D310D|SEC14L3_uc003aia.2_Silent_p.D328D|SEC14L3_uc003aib.2_Silent_p.D328D	0,1	1			p.D387D	NM_174975	NP_777635	A:0		0,1	S14L3_HUMAN	SEC14L3	HGNC	Q9UDX4	S14L3_HUMAN					12	1250	-			UPI000000D83C	387					SNV	SEC14L3,synonymous_variant,p.=,ENST00000215812,NM_174975.4;SEC14L3,synonymous_variant,p.=,ENST00000402286,NM_001257378.1;SEC14L3,synonymous_variant,p.=,ENST00000539629,NM_001257382.1;SEC14L3,synonymous_variant,p.=,ENST00000540910,;SEC14L3,synonymous_variant,p.=,ENST00000401751,NM_001257379.1;SEC14L3,intron_variant,,ENST00000403066,;SEC14L3,intron_variant,,ENST00000415957,;SEC14L3,downstream_gene_variant,,ENST00000435069,;SEC14L3,3_prime_UTR_variant,,ENST00000434642,;	uc003ahy.2	c.1161C>T	1252/2086	1	1			c.1161C>T						22	SNP	c.(1159-1161)GAC>GAT	55	55			ovary(3)|pancreas(1)|skin(1)	5	Broad	SEC14-like 3		Vitamin E(DB00163)	30856050		0.502	ENSG00000100012	13763	g.chr22:30856050G>A		integral to membrane|intracellular	lipid binding|transporter activity	Esophageal Squamous(108;290 1516 3584 23771 37333)			Esophageal Squamous(108;290 1516 3584 23771 37333)			63.382398	KEEP	12	11	-1	16	14	12	11	-1	63.724204	16	14	0.411765	1	0	0	0	0	0	0	1	0	--	--		0	A			SEC14L3_uc003ahz.2_Silent_p.D310D|SEC14L3_uc003aia.2_Silent_p.D328D|SEC14L3_uc003aib.2_Silent_p.D328D	258	GBM-41-5651-TP	p.D387D	G	GCATGCCCTCGTCAGGGAGCA	NM_174975	NP_777635	30856050	Q9UDX4	S14L3_HUMAN	0			12	1250	-	A	A			Silent	387						
SEC14L5	9717		GRCh37	16	5058451	5058451	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000251170.7:c.1602G>A	p.Ser534=	p.S534=	ENST00000251170	NM_014692.1	534	tcG/tcA	0																																																																																																																																																																																																																																												
SEC16A	9919	broad.mit.edu	GRCh37	9	139358176	139358176	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01	TCGA-06-0214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313050.7:c.4463C>T	p.Thr1488Met	p.T1488M	ENST00000313050	NM_014866.1	1488	aCg/aTg	0			1			A	T/M	uc004chx.2	protein_coding	YES	CCDS55351.1			4463/7074										0	c.(4462-4464)ACG>ATG			hmmpanther:PTHR13402,hmmpanther:PTHR13402:SF7,Pfam_domain:PF12932	SEC16 homolog A				ENSP00000325827		30-Aug	3.31E-05							0.000244	rs763048548,COSM3413465,COSM3413464	30-Aug	.		ENST00000313050	Transcript			protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		ENSG00000148396	g.chr9:139358176G>A	29006			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=SC16A_HUMAN&rb=1270&re=1372&var=T1310M	NA	getma.org/?cm=var&var=hg19,9,139358176,G,A&fts=all	T1310M	--	--	1																																		SEC16A_uc004chv.3_Missense_Mutation_p.T878M|SEC16A_uc004chw.2_Missense_Mutation_p.T1488M|SEC16A_uc010nbn.2_Missense_Mutation_p.T1488M	0,1,1	1		benign(0.273)	p.T1488M	NM_014866	NP_055681		tolerated(0.1)	0,1,1		SEC16A	HGNC	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	J3KNL6_HUMAN,G1UI25_HUMAN,A0PJ75_HUMAN		10	4772	-		Myeloproliferative disorder(178;0.0511)	UPI0000F0888B	1310					SNV	SEC16A,missense_variant,p.Thr1488Met,ENST00000313050,NM_014866.1;SEC16A,missense_variant,p.Thr1310Met,ENST00000371706,NM_001276418.1;SEC16A,missense_variant,p.Thr1310Met,ENST00000290037,;SEC16A,missense_variant,p.Thr1310Met,ENST00000431893,;SEC16A,missense_variant,p.Thr210Met,ENST00000453963,;SEC16A,upstream_gene_variant,,ENST00000277537,;SEC16A,non_coding_transcript_exon_variant,,ENST00000472305,;	uc004chx.2	c.4463C>T	4537/8806	1	1			c.4463C>T						9	SNP	c.(4462-4464)ACG>ATG	64	64				0	Broad	SEC16 homolog A			139358176		0.647	ENSG00000148396	13766	g.chr9:139358176G>A	protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane								116.808166	KEEP	21	26	-1	43	47	21	26	-1	119.542165	43	47	0.341463	1	0	0	0	0	1	0	0	0	--	--		0	A			SEC16A_uc004chv.3_Missense_Mutation_p.T878M|SEC16A_uc004chw.2_Missense_Mutation_p.T1488M|SEC16A_uc010nbn.2_Missense_Mutation_p.T1488M	50	GBM-06-0214-TP	p.T1488M	G	CTGCTCAGACGTGTGCTGCAG	NM_014866	NP_055681	139358176	O15027	SC16A_HUMAN	0		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	10	4772	-	A	A		Myeloproliferative disorder(178;0.0511)	Missense_Mutation	1310						
SEC16A	0	broad.mit.edu	GRCh37	9	139369673	139369673	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-6698-01	TCGA-06-6698-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313050.7:c.2395G>C	p.Glu799Gln	p.E799Q	ENST00000313050	NM_014866.1	799	Gag/Cag	0			1			G	E/Q	uc004chx.2	protein_coding	YES	CCDS55351.1			2395/7074										0	c.(2395-2397)GAG>CAG			hmmpanther:PTHR13402,hmmpanther:PTHR13402:SF7	SEC16 homolog A				ENSP00000325827		30-Jan									COSM3413467,COSM3413466	30-Jan	.		ENST00000313050	Transcript			protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		ENSG00000148396	g.chr9:139369673C>G	29006			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=SC16A_HUMAN&rb=2&re=891&var=E621Q	NA	getma.org/?cm=var&var=hg19,9,139369673,C,G&fts=all	E621Q	--	--	1																																		SEC16A_uc004chv.3_Missense_Mutation_p.E426Q|SEC16A_uc004chw.2_Missense_Mutation_p.E799Q|SEC16A_uc010nbn.2_Missense_Mutation_p.E799Q|SEC16A_uc010nbo.1_Missense_Mutation_p.E799Q	1,1	1		possibly_damaging(0.864)	p.E799Q	NM_014866	NP_055681		deleterious(0.01)	1,1		SEC16A	HGNC	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	J3KNL6_HUMAN,G1UI25_HUMAN,A0PJ75_HUMAN		3	2704	-		Myeloproliferative disorder(178;0.0511)	UPI0000F0888B	621					SNV	SEC16A,missense_variant,p.Glu799Gln,ENST00000313050,NM_014866.1;SEC16A,missense_variant,p.Glu621Gln,ENST00000371706,NM_001276418.1;SEC16A,missense_variant,p.Glu621Gln,ENST00000290037,;SEC16A,missense_variant,p.Glu621Gln,ENST00000431893,;	uc004chx.2	c.2395G>C	2469/8806	3	3			c.2395G>C						9	SNP	c.(2395-2397)GAG>CAG	50	50				0	Broad	SEC16 homolog A			139369673		0.572	ENSG00000148396	13766	g.chr9:139369673C>G	protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane								118.520549	KEEP	18	17	-1	5	7	18	17	-1	121.151963	5	7	0.761905	1	0	0	0	0	1	0	0	0	--	--		0	G			SEC16A_uc004chv.3_Missense_Mutation_p.E426Q|SEC16A_uc004chw.2_Missense_Mutation_p.E799Q|SEC16A_uc010nbn.2_Missense_Mutation_p.E799Q|SEC16A_uc010nbo.1_Missense_Mutation_p.E799Q	112	GBM-06-6698-TP	p.E799Q	C	GCCTCCTCCTCTCCCATTTTG	NM_014866	NP_055681	139369673	O15027	SC16A_HUMAN	0		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	3	2704	-	G	G		Myeloproliferative disorder(178;0.0511)	Missense_Mutation	621						
SEC16B	0	broad.mit.edu	GRCh37	1	177937026	177937026	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2638-01	TCGA-32-2638-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308284.6:c.91G>A	p.Gly31Arg	p.G31R	ENST00000308284	NM_033127.2	31	Gga/Aga	0			1			T	G/R	uc001gli.1	protein_coding	YES	CCDS44281.1			91/3183									ovary(3)|central_nervous_system(1)	4	c.(91-93)GGA>AGA			hmmpanther:PTHR13402,hmmpanther:PTHR13402:SF8	leucine zipper transcription regulator 2				ENSP00000308339		26-Feb									COSM3400026	26-Feb	.		ENST00000308284	Transcript			protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		ENSG00000120341	g.chr1:177937026C>T	30301			MODERATE		1.21	low	getma.org/?cm=msa&ty=f&p=SC16B_HUMAN&rb=1&re=200&var=G31R	NA	getma.org/?cm=var&var=hg19,1,177937026,C,T&fts=all	G31R	--	--	1																																		SEC16B_uc001glk.1_5'UTR|SEC16B_uc009wwz.1_5'UTR|SEC16B_uc001glj.1_Missense_Mutation_p.G31R|SEC16B_uc001gll.3_Missense_Mutation_p.G31R	1	1		benign(0.172)	p.G31R	NM_033127	NP_149118		tolerated(0.11)	1	SC16B_HUMAN	SEC16B	HGNC	Q96JE7	SC16B_HUMAN					2	181	-			UPI0000203C4D	31					SNV	SEC16B,missense_variant,p.Gly31Arg,ENST00000308284,NM_033127.2;SEC16B,missense_variant,p.Gly31Arg,ENST00000464631,;RP4-798P15.3,non_coding_transcript_exon_variant,,ENST00000354921,;SEC16B,missense_variant,p.Gly31Arg,ENST00000528461,;RP4-798P15.3,non_coding_transcript_exon_variant,,ENST00000466953,;RP4-798P15.3,non_coding_transcript_exon_variant,,ENST00000464428,;	uc001gli.1	c.91G>A	181/3985	1	1			c.91G>A						1	SNP	c.(91-93)GGA>AGA	9	9			ovary(3)|central_nervous_system(1)	4	Broad	leucine zipper transcription regulator 2			177937026		0.602	ENSG00000120341	13767	g.chr1:177937026C>T	protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane								64.13718	KEEP	18	6	-1	20	14	18	6	-1	64.542422	20	14	0.407407	1	0	0	0	0	1	0	0	0	--	--		0	T			SEC16B_uc001glk.1_5'UTR|SEC16B_uc009wwz.1_5'UTR|SEC16B_uc001glj.1_Missense_Mutation_p.G31R|SEC16B_uc001gll.3_Missense_Mutation_p.G31R	242	GBM-32-2638-TP	p.G31R	C	CGATGATGTCCATCTCTCCGA	NM_033127	NP_149118	177937026	Q96JE7	SC16B_HUMAN	0			2	181	-	T	T			Missense_Mutation	31						
SEC22C	0	broad.mit.edu	GRCh37	3	42602655	42602655	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-41-3392-01	TCGA-41-3392-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264454.3:c.480G>C	p.Val160=	p.V160=	ENST00000264454		160	gtG/gtC	0			1			G	V	uc003clj.2	protein_coding	YES	CCDS2700.1			480/912										0	c.(478-480)GTG>GTC			hmmpanther:PTHR21136:SF2,hmmpanther:PTHR21136	SEC22 vesicle trafficking protein homolog C				ENSP00000264454		7-Apr									COSM3408673,COSM3408672	7-Apr	.		ENST00000264454	Transcript			ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane		ENSG00000093183	g.chr3:42602655C>G	16828			LOW								--	--	1																																		SEC22C_uc003clh.2_Silent_p.V160V|SEC22C_uc011azo.1_Silent_p.V90V|SEC22C_uc010hic.2_Silent_p.V160V|SEC22C_uc003cli.2_Silent_p.V160V	1,1	1			p.V160V	NM_032970	NP_116752			1,1	SC22C_HUMAN	SEC22C	HGNC	Q9BRL7	SC22C_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.222)	C9J9A4_HUMAN,C9J448_HUMAN,C9J2R1_HUMAN		4	598	-			UPI000006D0A7	160			Cytoplasmic (Potential).		SNV	SEC22C,synonymous_variant,p.=,ENST00000451653,;SEC22C,synonymous_variant,p.=,ENST00000273156,NM_032970.3,NM_004206.3;SEC22C,synonymous_variant,p.=,ENST00000417572,NM_001201572.1;SEC22C,synonymous_variant,p.=,ENST00000423701,NM_001201584.1;SEC22C,synonymous_variant,p.=,ENST00000536332,;SEC22C,synonymous_variant,p.=,ENST00000264454,;SEC22C,synonymous_variant,p.=,ENST00000456515,;SEC22C,downstream_gene_variant,,ENST00000450981,;SEC22C,downstream_gene_variant,,ENST00000420163,;SEC22C,downstream_gene_variant,,ENST00000416880,;SEC22C,non_coding_transcript_exon_variant,,ENST00000493107,;SEC22C,downstream_gene_variant,,ENST00000456222,;SEC22C,3_prime_UTR_variant,,ENST00000449617,;SEC22C,3_prime_UTR_variant,,ENST00000383750,;SEC22C,downstream_gene_variant,,ENST00000445388,;SEC22C,downstream_gene_variant,,ENST00000454141,;SEC22C,downstream_gene_variant,,ENST00000487701,;	uc003clj.2	c.480G>C	624/1380	4	4			c.480G>C						3	SNP	c.(478-480)GTG>GTC	32	32				0	Broad	SEC22 vesicle trafficking protein homolog C			42602655		0.468	ENSG00000093183	13770	g.chr3:42602655C>G	ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane								197.72773	KEEP	31	36	-1	45	45	31	36	-1	198.126673	45	45	0.442857	1	0	0	0	0	0	0	1	0	--	--		0	G			SEC22C_uc003clh.2_Silent_p.V160V|SEC22C_uc011azo.1_Silent_p.V90V|SEC22C_uc010hic.2_Silent_p.V160V|SEC22C_uc003cli.2_Silent_p.V160V	254	GBM-41-3392-TP	p.V160V	C	CCCCATTTGCCACATCTGTGT	NM_032970	NP_116752	42602655	Q9BRL7	SC22C_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.222)	4	598	-	G	G			Silent	160			Cytoplasmic (Potential).			
SEC23B	0	broad.mit.edu	GRCh37	20	18511418	18511418	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-2631-01	TCGA-19-2631-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262544.2:c.1204A>G	p.Met402Val	p.M402V	ENST00000262544		402	Atg/Gtg	0			1			G	M/V	uc002wqz.1	protein_coding		CCDS13137.1			1204/2304									ovary(1)	1	c.(1204-1206)ATG>GTG			hmmpanther:PTHR11141,hmmpanther:PTHR11141:SF3,Gene3D:2nutA01	Sec23 homolog B				ENSP00000262544		20-Oct									COSM2156397	20-Oct	.		ENST00000262544	Transcript	1		ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	ENSG00000101310	g.chr20:18511418A>G	10702			MODERATE		2.905	medium	getma.org/?cm=msa&ty=f&p=SC23B_HUMAN&rb=363&re=432&var=M402V	getma.org/pdb.php?prot=SC23B_HUMAN&from=393&to=402&var=M402V	getma.org/?cm=var&var=hg19,20,18511418,A,G&fts=all	M402V	--	--	1																																		SEC23B_uc002wra.1_Missense_Mutation_p.M402V|SEC23B_uc002wrb.1_Missense_Mutation_p.M402V|SEC23B_uc010zsb.1_Missense_Mutation_p.M384V|SEC23B_uc002wrc.1_Missense_Mutation_p.M402V	1			benign(0.141)	p.M402V	NM_006363	NP_006354		deleterious(0.03)	1	SC23B_HUMAN	SEC23B	HGNC	Q15437	SC23B_HUMAN			Q5QPE2_HUMAN,B4DS04_HUMAN		10	1647	+			UPI0000135455	402					SNV	SEC23B,missense_variant,p.Met402Val,ENST00000336714,NM_032985.4,NM_032986.3,NM_006363.4;SEC23B,missense_variant,p.Met402Val,ENST00000377475,NM_001172746.1;SEC23B,missense_variant,p.Met402Val,ENST00000377465,NM_001172745.1;SEC23B,missense_variant,p.Met402Val,ENST00000262544,;SEC23B,downstream_gene_variant,,ENST00000450074,;	uc002wqz.1	c.1204A>G	1694/3176	3	3			c.1204A>G						20	SNP	c.(1204-1206)ATG>GTG	13	13			ovary(1)	1	Broad	Sec23 homolog B			18511418		0.274	ENSG00000101310	13772	g.chr20:18511418A>G	ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding							129.012318	KEEP	24	26	-1	99	100	24	26	-1	146.654526	99	100	0.208889	1	0	0	0	0	1	0	0	0	--	--		0	G			SEC23B_uc002wra.1_Missense_Mutation_p.M402V|SEC23B_uc002wrb.1_Missense_Mutation_p.M402V|SEC23B_uc010zsb.1_Missense_Mutation_p.M384V|SEC23B_uc002wrc.1_Missense_Mutation_p.M402V	167	GBM-19-2631-TP	p.M402V	A	AGATTTCCGAATGGCATTTGG	NM_006363	NP_006354	18511418	Q15437	SC23B_HUMAN	0			10	1647	+	G	G			Missense_Mutation	402						
SEC23B	0	broad.mit.edu	GRCh37	20	18507120	18507120	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01	TCGA-41-5651-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262544.2:c.938G>A	p.Arg313His	p.R313H	ENST00000262544		313	cGt/cAt	0			1			A	R/H	uc002wqz.1	protein_coding		CCDS13137.1			938/2304									ovary(1)	1	c.(937-939)CGT>CAT			hmmpanther:PTHR11141,hmmpanther:PTHR11141:SF3,Pfam_domain:PF04811,Gene3D:3.40.50.410,Superfamily_domains:SSF53300	Sec23 homolog B				ENSP00000262544		20-Aug									COSM3404958	20-Aug	.		ENST00000262544	Transcript	1		ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	ENSG00000101310	g.chr20:18507120G>A	10702			MODERATE		3.645	high	getma.org/?cm=msa&ty=f&p=SC23B_HUMAN&rb=126&re=392&var=R313H	getma.org/pdb.php?prot=SC23B_HUMAN&from=126&to=392&var=R313H	getma.org/?cm=var&var=hg19,20,18507120,G,A&fts=all	R313H	--	--	1																																		SEC23B_uc002wra.1_Missense_Mutation_p.R313H|SEC23B_uc002wrb.1_Missense_Mutation_p.R313H|SEC23B_uc010zsb.1_Missense_Mutation_p.R295H|SEC23B_uc002wrc.1_Missense_Mutation_p.R313H	1			probably_damaging(1)	p.R313H	NM_006363	NP_006354		deleterious(0)	1	SC23B_HUMAN	SEC23B	HGNC	Q15437	SC23B_HUMAN			Q5QPE2_HUMAN,B4DS04_HUMAN		8	1381	+			UPI0000135455	313		R -> H.			SNV	SEC23B,missense_variant,p.Arg313His,ENST00000336714,NM_032985.4,NM_032986.3,NM_006363.4;SEC23B,missense_variant,p.Arg313His,ENST00000377475,NM_001172746.1;SEC23B,missense_variant,p.Arg313His,ENST00000377465,NM_001172745.1;SEC23B,missense_variant,p.Arg313His,ENST00000262544,;SEC23B,missense_variant,p.Arg313His,ENST00000450074,;	uc002wqz.1	c.938G>A	1428/3176	2	2			c.938G>A						20	SNP	c.(937-939)CGT>CAT	43	43			ovary(1)	1	Broad	Sec23 homolog B			18507120		0.458	ENSG00000101310	13772	g.chr20:18507120G>A	ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding							89.899875	KEEP	18	19	-1	29	62	18	19	-1	94.804516	29	62	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	A			SEC23B_uc002wra.1_Missense_Mutation_p.R313H|SEC23B_uc002wrb.1_Missense_Mutation_p.R313H|SEC23B_uc010zsb.1_Missense_Mutation_p.R295H|SEC23B_uc002wrc.1_Missense_Mutation_p.R313H	258	GBM-41-5651-TP	p.R313H	G	ATTCCTATTCGTTCTTGGCAT	NM_006363	NP_006354	18507120	Q15437	SC23B_HUMAN	0			8	1381	+	A	A			Missense_Mutation	313		R -> H.				
SEC23IP	11196	broad.mit.edu	GRCh37	10	121663608	121663608	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs147722288	byFrequency	TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369075.3:c.920C>T	p.Pro307Leu	p.P307L	ENST00000369075	NM_007190.3	307	cCg/cTg	0	T:0.0005	T:0	1	T:0		T	P/L	uc001leu.1	protein_coding	YES	CCDS7618.1			920/3003									ovary(3)	3	c.(919-921)CCG>CTG			hmmpanther:PTHR15457,hmmpanther:PTHR15457:SF25	Sec23-interacting protein p125		T:0	T:0.0006	ENSP00000358071	T:0.001	19-Apr	0.000626	0.00048	8.64E-05		0.00106	0.00093	0.0011		rs147722288,COSM3396946	19-Apr	common_variant		ENST00000369075	Transcript		T:0.0002	Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	ENSG00000107651	g.chr10:121663608C>T	17018			MODERATE		2.2	medium	getma.org/?cm=msa&ty=f&p=S23IP_HUMAN&rb=201&re=400&var=P307L	NA	getma.org/?cm=var&var=hg19,10,121663608,C,T&fts=all	P307L	--	--	1																																		SEC23IP_uc010qtc.1_Missense_Mutation_p.P96L	0,1	1		probably_damaging(1)	p.P307L	NM_007190	NP_009121	T:0	deleterious(0.02)	0,1	S23IP_HUMAN	SEC23IP	HGNC	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)			4	992	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	UPI000006FCCE	307			Interaction with SEC23A.		SNV	SEC23IP,missense_variant,p.Pro307Leu,ENST00000369075,NM_007190.3;SEC23IP,missense_variant,p.Pro96Leu,ENST00000543134,;SEC23IP,missense_variant,p.Pro73Leu,ENST00000442952,;SEC23IP,missense_variant,p.Pro41Leu,ENST00000446561,;	uc001leu.1	c.920C>T	992/4656	2	2			c.920C>T						10	SNP	c.(919-921)CCG>CTG	34	34			ovary(3)	3	Broad	Sec23-interacting protein p125			121663608		0.408	ENSG00000107651	13773	g.chr10:121663608C>T	Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding							-6.839363	KEEP	8	0	-1	61	51	8	0	-1	14.503723	61	51	0.057692	1	0	0	0	0	1	0	0	0	--	--		0	T			SEC23IP_uc010qtc.1_Missense_Mutation_p.P96L	102	GBM-06-5858-TP	p.P307L	C	CAGCCAGATCCGGAGAGCGTG	NM_007190	NP_009121	121663608	Q9Y6Y8	S23IP_HUMAN	0		all cancers(201;0.00515)	4	992	+	T	T		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	Missense_Mutation	307			Interaction with SEC23A.			
SEC23IP	0	broad.mit.edu	GRCh37	10	121668628	121668628	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-16-0846-01	TCGA-16-0846-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369075.3:c.1177A>G	p.Met393Val	p.M393V	ENST00000369075	NM_007190.3	393	Atg/Gtg	0			1			G	M/V	uc001leu.1	protein_coding	YES	CCDS7618.1			1177/3003									ovary(3)	3	c.(1177-1179)ATG>GTG			hmmpanther:PTHR15457,hmmpanther:PTHR15457:SF25	Sec23-interacting protein p125				ENSP00000358071		19-May									COSM3396947	19-May	.		ENST00000369075	Transcript			Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	ENSG00000107651	g.chr10:121668628A>G	17018			MODERATE		2.17	medium	getma.org/?cm=msa&ty=f&p=S23IP_HUMAN&rb=201&re=400&var=M393V	NA	getma.org/?cm=var&var=hg19,10,121668628,A,G&fts=all	M393V	--	--	1																																		SEC23IP_uc010qtc.1_Missense_Mutation_p.M182V	1	1		benign(0.045)	p.M393V	NM_007190	NP_009121		tolerated(0.08)	1	S23IP_HUMAN	SEC23IP	HGNC	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)			5	1249	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	UPI000006FCCE	393					SNV	SEC23IP,missense_variant,p.Met393Val,ENST00000369075,NM_007190.3;SEC23IP,missense_variant,p.Met182Val,ENST00000543134,;SEC23IP,intron_variant,,ENST00000446561,;SEC23IP,downstream_gene_variant,,ENST00000442952,;	uc001leu.1	c.1177A>G	1249/4656	3	3			c.1177A>G						10	SNP	c.(1177-1179)ATG>GTG	63	63			ovary(3)	3	Broad	Sec23-interacting protein p125			121668628		0.303	ENSG00000107651	13773	g.chr10:121668628A>G	Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding							205.865108	KEEP	39	19	-1	13	5	39	19	-1	210.451292	13	5	0.763889	1	0	0	0	0	1	0	0	0	--	--		0	G			SEC23IP_uc010qtc.1_Missense_Mutation_p.M182V	155	GBM-16-0846-TP	p.M393V	A	GACAATTGTTATGCACAATCC	NM_007190	NP_009121	121668628	Q9Y6Y8	S23IP_HUMAN	0		all cancers(201;0.00515)	5	1249	+	G	G		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	Missense_Mutation	393						
SEC24A	0	broad.mit.edu	GRCh37	5	134033601	134033601	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01	TCGA-19-4068-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398844.2:c.2120G>A	p.Arg707Gln	p.R707Q	ENST00000398844	NM_021982.2	707	cGg/cAg	0			1			A	R/Q	uc003kzs.2	protein_coding	YES	CCDS43363.1			2120/3282										0	c.(2119-2121)CGG>CAG			Superfamily_domains:SSF81995,Superfamily_domains:SSF53300,Gene3D:3.40.50.410,Pfam_domain:PF04811,hmmpanther:PTHR13803,hmmpanther:PTHR13803:SF1	SEC24 related gene family, member A				ENSP00000381823		15/23	8.27E-06					1.50E-05			rs775730251,COSM3409737	15/23	.		ENST00000398844	Transcript			COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	ENSG00000113615	g.chr5:134033601G>A	10703			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=SC24A_HUMAN&rb=501&re=739&var=R707Q	getma.org/pdb.php?prot=SC24A_HUMAN&from=501&to=739&var=R707Q	getma.org/?cm=var&var=hg19,5,134033601,G,A&fts=all	R707Q	--	--	1																																		SEC24A_uc011cxu.1_Missense_Mutation_p.R471Q	0,1	1		possibly_damaging(0.463)	p.R707Q	NM_021982	NP_068817		deleterious(0.02)	0,1	SC24A_HUMAN	SEC24A	HGNC	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)				15	2408	+			UPI0000185FF9	707					SNV	SEC24A,missense_variant,p.Arg707Gln,ENST00000398844,NM_021982.2;SEC24A,downstream_gene_variant,,ENST00000322887,NM_001252231.1;RNU6-1164P,downstream_gene_variant,,ENST00000364428,;	uc003kzs.2	c.2120G>A	2408/6299	2	2			c.2120G>A						5	SNP	c.(2119-2121)CGG>CAG	23	23				0	Broad	SEC24 related gene family, member A			134033601		0.383	ENSG00000113615	13774	g.chr5:134033601G>A	COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding							-62.748384	KEEP	4	8	-1	199	188	4	8	-1	18.854109	199	188	0.029762	1	0	0	0	0	1	0	0	0	--	--		0	A			SEC24A_uc011cxu.1_Missense_Mutation_p.R471Q	168	GBM-19-4068-TP	p.R707Q	G	TGTATTTCTCGGTATTCAGCA	NM_021982	NP_068817	134033601	O95486	SC24A_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		15	2408	+	A	A			Missense_Mutation	707						
SEC24B	0	broad.mit.edu	GRCh37	4	110442579	110442579	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-4208-01	TCGA-32-4208-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265175.5:c.2305A>G	p.Ile769Val	p.I769V	ENST00000265175	NM_006323.2	769	Ata/Gta	0			1			G	I/V	uc003hzk.2	protein_coding	YES	CCDS47124.1			2305/3807									ovary(2)|large_intestine(1)	3	c.(2305-2307)ATA>GTA			hmmpanther:PTHR13803,hmmpanther:PTHR13803:SF7,Pfam_domain:PF04811,Gene3D:3.40.50.410,Superfamily_domains:SSF53300	SEC24 (S. cerevisiae) homolog B isoform a				ENSP00000265175		14/24									COSM3408984,COSM3408983	14/24	.		ENST00000265175	Transcript			COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	ENSG00000138802	g.chr4:110442579A>G	10704			MODERATE		0.055	neutral	getma.org/?cm=msa&ty=f&p=SC24B_HUMAN&rb=675&re=914&var=I769V	getma.org/pdb.php?prot=SC24B_HUMAN&from=675&to=914&var=I769V	getma.org/?cm=var&var=hg19,4,110442579,A,G&fts=all	I769V	--	--	1																																		SEC24B_uc003hzl.2_Missense_Mutation_p.I734V|SEC24B_uc011cfp.1_Missense_Mutation_p.I799V|SEC24B_uc011cfq.1_Missense_Mutation_p.I768V|SEC24B_uc011cfr.1_Missense_Mutation_p.I733V	1,1	1		benign(0.017)	p.I769V	NM_006323	NP_006314		tolerated(0.5)	1,1	SC24B_HUMAN	SEC24B	HGNC	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	B4E2E1_HUMAN		14	2360	+		Hepatocellular(203;0.217)	UPI00004F6ED7	769					SNV	SEC24B,missense_variant,p.Ile769Val,ENST00000265175,NM_006323.2;SEC24B,missense_variant,p.Ile799Val,ENST00000504968,;SEC24B,missense_variant,p.Ile734Val,ENST00000399100,NM_001042734.1;	uc003hzk.2	c.2305A>G	2360/5083	3	3			c.2305A>G						4	SNP	c.(2305-2307)ATA>GTA	55	55			ovary(2)|large_intestine(1)	3	Broad	SEC24 (S. cerevisiae) homolog B isoform a			110442579		0.343	ENSG00000138802	13775	g.chr4:110442579A>G	COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding							-7.567153	KEEP	0	4	-1	44	43	0	4	-1	10.72862	44	43	0.047619	1	0	0	0	0	1	0	0	0	--	--		0	G			SEC24B_uc003hzl.2_Missense_Mutation_p.I734V|SEC24B_uc011cfp.1_Missense_Mutation_p.I799V|SEC24B_uc011cfq.1_Missense_Mutation_p.I768V|SEC24B_uc011cfr.1_Missense_Mutation_p.I733V	243	GBM-32-4208-TP	p.I769V	A	TTCTCAGCTTATAAAAGACTT	NM_006323	NP_006314	110442579	O95487	SC24B_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	14	2360	+	G	G		Hepatocellular(203;0.217)	Missense_Mutation	769						
SEC24B	10427		GRCh37	4	110437770	110437770	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0167-01	TCGA-06-0167-01																				ENST00000265175.5:c.2100C>T	p.Cys700=	p.C700=	ENST00000265175	NM_006323.2	700	tgC/tgT	0																																																																																																																																																																																																																																												
SEC24B	10427		GRCh37	4	110384778	110384778	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000265175.5:c.855G>A	p.Ala285=	p.A285=	ENST00000265175	NM_006323.2	285	gcG/gcA	0																																																																																																																																																																																																																																												
SEC24D	0	broad.mit.edu	GRCh37	4	119745869	119745870	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	rs141446866		TCGA-28-2514-01	TCGA-28-2514-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000280551.6:c.153dupC	p.Ala52ArgfsTer3	p.A52Rfs*3	ENST00000280551		51	-/C	0			1			G	-/X	uc003ici.3	protein_coding	YES	CCDS3710.1			153-154/3099										0	c.(151-156)ACCGCCfs			hmmpanther:PTHR13803:SF6,hmmpanther:PTHR13803	Sec24-related protein D				ENSP00000280551		23-Mar									rs370196904	23-Mar	.		ENST00000280551	Transcript	1		COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	ENSG00000150961	g.chr4:119745869_119745870insG	10706			HIGH								--	--	1																																		SEC24D_uc003icj.3_Frame_Shift_Ins_p.T51fs|SEC24D_uc003icl.2_RNA|SEC24D_uc010imz.1_RNA|SEC24D_uc011cgg.1_RNA		1			p.T51fs	NM_014822	NP_055637				SC24D_HUMAN	SEC24D	HGNC	O94855	SC24D_HUMAN			E9PDM8_HUMAN,D6RGJ5_HUMAN		3	425_426	-			UPI00001AEA4F	51_52			Pro-rich.		insertion	SEC24D,frameshift_variant,p.Ala52ArgfsTer3,ENST00000379735,NM_014822.2;SEC24D,frameshift_variant,p.Ala52ArgfsTer3,ENST00000280551,;SEC24D,frameshift_variant,p.Ala52ArgfsTer3,ENST00000503683,;SEC24D,5_prime_UTR_variant,,ENST00000419654,;SEC24D,frameshift_variant,p.Ala52ArgfsTer3,ENST00000509818,;SEC24D,frameshift_variant,p.Ala52ArgfsTer3,ENST00000506622,;SEC24D,3_prime_UTR_variant,,ENST00000514561,;	uc003ici.3	c.153_154insC	392-393/4030	5	5			c.153_154insC						4	INS	c.(151-156)ACCGCCfs	33	33				0	Broad	Sec24-related protein D			119745870		0.54	ENSG00000150961	13777	g.chr4:119745869_119745870insG	COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding																				0.03	1	0	0	1	1	0	0	0	0	--	--		0	G			SEC24D_uc003icj.3_Frame_Shift_Ins_p.T51fs|SEC24D_uc003icl.2_RNA|SEC24D_uc010imz.1_RNA|SEC24D_uc011cgg.1_RNA	214	GBM-28-2514-TP	p.T51fs	-	CCCCTAGTGGCGGTGGCCCCCA	NM_014822	NP_055637	119745869	O94855	SC24D_HUMAN	0			3	425_426	-	G	G			Frame_Shift_Ins	51_52			Pro-rich.			
SEC31A	22872	broad.mit.edu	GRCh37	4	83785658	83785658	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0745-01	TCGA-06-0745-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395310.2:c.1291C>T	p.Gln431Ter	p.Q431*	ENST00000395310	NM_001077207.2	431	Cag/Tag	0			1			A	Q/*	uc003hnf.2	protein_coding		CCDS3596.1			1291/3663							SEC31A/JAK2(4)|SEC31A/ALK(3)		haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8	c.(1291-1293)CAG>TAG			Low_complexity_(Seg):seg,hmmpanther:PTHR13923:SF23,hmmpanther:PTHR13923	SEC31 homolog A isoform 1				ENSP00000347329		13/29									COSM3409579,COSM2151746,COSM2151747	13/29	.		ENST00000355196	Transcript			COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	ENSG00000138674	g.chr4:83785658G>A	17052			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,4,83785658,G,A&fts=all	Q431*	--	--	1																																		SEC31A_uc003hne.2_Nonsense_Mutation_p.Q203*|SEC31A_uc011ccl.1_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnl.2_Nonsense_Mutation_p.Q431*|SEC31A_uc003hng.2_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnh.2_Nonsense_Mutation_p.Q431*|SEC31A_uc003hni.2_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnj.2_Nonsense_Mutation_p.Q431*|SEC31A_uc011ccm.1_Nonsense_Mutation_p.Q426*|SEC31A_uc011ccn.1_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnk.2_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnm.2_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnn.1_Nonsense_Mutation_p.Q431*|SEC31A_uc003hno.2_Nonsense_Mutation_p.Q431*	1,1,1				p.Q431*	NM_001077207	NP_001070675			1,1,1	SC31A_HUMAN	SEC31A	HGNC	O94979	SC31A_HUMAN			U3KQC9_HUMAN,D6REC0_HUMAN,D6REA9_HUMAN,D6RE64_HUMAN,D6RCQ9_HUMAN,D6RBT0_HUMAN		11	1455	-		Hepatocellular(203;0.114)	UPI000003E7E1	431			Interaction with SEC13.		SNV	SEC31A,stop_gained,p.Gln431Ter,ENST00000432794,;SEC31A,stop_gained,p.Gln431Ter,ENST00000395310,NM_001077207.2,NM_014933.3,NM_001077208.2;SEC31A,stop_gained,p.Gln431Ter,ENST00000448323,;SEC31A,stop_gained,p.Gln431Ter,ENST00000505472,;SEC31A,stop_gained,p.Gln431Ter,ENST00000326950,NM_016211.3;SEC31A,stop_gained,p.Gln431Ter,ENST00000355196,;SEC31A,stop_gained,p.Gln426Ter,ENST00000443462,NM_001191049.1;SEC31A,stop_gained,p.Gln431Ter,ENST00000348405,;SEC31A,stop_gained,p.Gln431Ter,ENST00000311785,NM_001077206.2;SEC31A,stop_gained,p.Gln431Ter,ENST00000509142,;SEC31A,stop_gained,p.Gln431Ter,ENST00000508502,;SEC31A,stop_gained,p.Gln431Ter,ENST00000513858,;SEC31A,stop_gained,p.Gln431Ter,ENST00000500777,;SEC31A,stop_gained,p.Gln431Ter,ENST00000505984,;SEC31A,stop_gained,p.Gln203Ter,ENST00000264405,;SEC31A,stop_gained,p.Gln431Ter,ENST00000508479,;SEC31A,stop_gained,p.Gln74Ter,ENST00000507828,;SEC31A,stop_gained,p.Gln32Ter,ENST00000510167,;SEC31A,upstream_gene_variant,,ENST00000512664,;SEC31A,non_coding_transcript_exon_variant,,ENST00000436790,;SEC31A,upstream_gene_variant,,ENST00000512732,;	uc003hnf.2	c.1291C>T	1669/4104	5	1			c.1291C>T						4	SNP	c.(1291-1293)CAG>TAG	61	61	SEC31A/JAK2(4)|SEC31A/ALK(3)		haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8	Broad	SEC31 homolog A isoform 1			83785658		0.438	ENSG00000138674	13778	g.chr4:83785658G>A	COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding							71.728047	KEEP	20	9	-1	29	21	20	9	-1	72.847001	29	21	0.366197	1	0	0	0	0	0	1	0	0	--	--		0	A			SEC31A_uc003hne.2_Nonsense_Mutation_p.Q203*|SEC31A_uc011ccl.1_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnl.2_Nonsense_Mutation_p.Q431*|SEC31A_uc003hng.2_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnh.2_Nonsense_Mutation_p.Q431*|SEC31A_uc003hni.2_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnj.2_Nonsense_Mutation_p.Q431*|SEC31A_uc011ccm.1_Nonsense_Mutation_p.Q426*|SEC31A_uc011ccn.1_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnk.2_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnm.2_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnn.1_Nonsense_Mutation_p.Q431*|SEC31A_uc003hno.2_Nonsense_Mutation_p.Q431*	67	GBM-06-0745-TP	p.Q431*	G	GTTACAACCTGACTAATGAAC	NM_001077207	NP_001070675	83785658	O94979	SC31A_HUMAN	0			11	1455	-	A	A		Hepatocellular(203;0.114)	Nonsense_Mutation	431			Interaction with SEC13.			
SEC61A1	29927	broad.mit.edu	GRCh37	3	127784027	127784027	+	intron_variant	Intron	SNP	G	G	C			TCGA-06-0195-01	TCGA-06-0195-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000243253.3:c.777+147G>C		p.*259*	ENST00000243253	NM_013336.3			0			1			C		uc003eke.2	protein_coding	YES	CCDS3046.1			-/1431									skin(1)	1	c.(274-276)ATC>ATG				RuvB-like 1				ENSP00000243253													.		ENST00000243253	Transcript			cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding	ENSG00000058262	g.chr3:127784027G>C	18276			MODIFIER	11-Aug							--	--	1																																		RUVBL1_uc003ekf.2_3'UTR|SEC61A1_uc003ekb.2_Intron|SEC61A1_uc003ekc.2_Intron|SEC61A1_uc003ekd.2_Intron|SEC61A1_uc003ekg.2_5'UTR		1			p.I92M	NM_003707	NP_003698				S61A1_HUMAN	SEC61A1	HGNC	Q9Y265	RUVB1_HUMAN		GBM - Glioblastoma multiforme(114;0.181)	B3KNG2_HUMAN,C9JXC6_HUMAN,B3KNF6_HUMAN,B3KME8_HUMAN		5	540	-			UPI00000041A9	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					SNV	RUVBL1,missense_variant,p.Ile171Met,ENST00000472125,;RUVBL1,3_prime_UTR_variant,,ENST00000464873,;SEC61A1,intron_variant,,ENST00000243253,NM_013336.3;SEC61A1,intron_variant,,ENST00000424880,;SEC61A1,intron_variant,,ENST00000464451,;SEC61A1,downstream_gene_variant,,ENST00000481210,;SEC61A1,non_coding_transcript_exon_variant,,ENST00000483956,;SEC61A1,upstream_gene_variant,,ENST00000498837,;RUVBL1,3_prime_UTR_variant,,ENST00000585057,;	uc003eke.2	c.276C>G	-/3635	3	3			c.276C>G						3	SNP	c.(274-276)ATC>ATG	56	56			skin(1)	1	Broad	RuvB-like 1			127784027		0.448	ENSG00000058262	13532	g.chr3:127784027G>C	cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding							54.955693	KEEP	6	8	-1	6	4	6	8	-1	55.193664	6	4	0.608696	1	0	0	0	0	1	0	0	0	--	--		0	C			RUVBL1_uc003ekf.2_3'UTR|SEC61A1_uc003ekb.2_Intron|SEC61A1_uc003ekc.2_Intron|SEC61A1_uc003ekd.2_Intron|SEC61A1_uc003ekg.2_5'UTR	45	GBM-06-0195-TP	p.I92M	G	CAGGTTTCCAGATGAGCTGGA	NM_003707	NP_003698	127784027	Q9Y265	RUVB1_HUMAN	0		GBM - Glioblastoma multiforme(114;0.181)	5	540	-	C	C			Missense_Mutation	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						
SEC62	0	broad.mit.edu	GRCh37	3	169694809	169694809	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-12-0618-01	TCGA-12-0618-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337002.4:c.221C>A	p.Thr74Asn	p.T74N	ENST00000337002	NM_003262.3	74	aCc/aAc	0			1			A	T/N	uc003fgg.2	protein_coding	YES	CCDS3210.1			221/1200									ovary(1)	1	c.(220-222)ACC>AAC			hmmpanther:PTHR12443:SF9,hmmpanther:PTHR12443,Gene3D:1.10.10.10	translocation protein 1				ENSP00000337688		8-Mar									COSM2153619	8-Mar	.		ENST00000337002	Transcript			cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity	ENSG00000008952	g.chr3:169694809C>A	11846			MODERATE		1.78	low	getma.org/?cm=msa&ty=f&p=SEC62_HUMAN&rb=1&re=85&var=T74N	NA	getma.org/?cm=var&var=hg19,3,169694809,C,A&fts=all	T74N	--	--	1																																		SEC62_uc003fgh.2_Missense_Mutation_p.T74N	1	1		benign(0.106)	p.T74N	NM_003262	NP_003253		tolerated(0.25)	1	SEC62_HUMAN	SEC62	HGNC	Q99442	SEC62_HUMAN			D3DNQ1_HUMAN		3	252	+			UPI000007186C	74			Cytoplasmic (Potential).		SNV	SEC62,missense_variant,p.Thr74Asn,ENST00000337002,NM_003262.3;SEC62,missense_variant,p.Thr74Asn,ENST00000480708,;SEC62-AS1,downstream_gene_variant,,ENST00000479626,;SEC62,missense_variant,p.Thr74Asn,ENST00000469515,;SEC62,missense_variant,p.Thr74Asn,ENST00000460513,;SEC62,3_prime_UTR_variant,,ENST00000487736,;SEC62,non_coding_transcript_exon_variant,,ENST00000481435,;SEC62,non_coding_transcript_exon_variant,,ENST00000497277,;	uc003fgg.2	c.221C>A	279/6568	1	1			c.221C>A						3	SNP	c.(220-222)ACC>AAC	52	52			ovary(1)	1	Broad	translocation protein 1			169694809		0.348	ENSG00000008952	13784	g.chr3:169694809C>A	cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity							129.732948	KEEP	22	28	0.56	32	30	22	28	0.56	130.113083	32	30	0.43299	1	0	0	0	0	1	0	0	0	--	--		0	A			SEC62_uc003fgh.2_Missense_Mutation_p.T74N	119	GBM-12-0618-TP	p.T74N	C	TTATTTACAACCAGGGAGTCT	NM_003262	NP_003253	169694809	Q99442	SEC62_HUMAN	0			3	252	+	A	A			Missense_Mutation	74			Cytoplasmic (Potential).			
SEC63	11231	broad.mit.edu	GRCh37	6	108225906	108225906	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0152-01	TCGA-06-0152-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369002.4:c.981A>C	p.Lys327Asn	p.K327N	ENST00000369002	NM_007214.4	327	aaA/aaC	0			1			G	K/N	uc003psc.3	protein_coding	YES	CCDS5061.1			981/2283									ovary(1)|skin(1)	2	c.(979-981)AAA>AAC			hmmpanther:PTHR24075,Pfam_domain:PF02889,Gene3D:2q0zX01,SMART_domains:SM00611,SMART_domains:SM00973,Superfamily_domains:SSF158702	SEC63-like protein				ENSP00000357998		21-Nov									COSM2149853	21-Nov	.		ENST00000369002	Transcript	1		protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	ENSG00000025796	g.chr6:108225906T>G	21082			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=SEC63_HUMAN&rb=197&re=538&var=K327N	getma.org/pdb.php?prot=SEC63_HUMAN&from=197&to=538&var=K327N	getma.org/?cm=var&var=hg19,6,108225906,T,G&fts=all	K327N	--	--	1																																		SEC63_uc003psb.3_Missense_Mutation_p.K187N	1	1		possibly_damaging(0.875)	p.K327N	NM_007214	NP_009145		deleterious(0.01)	1	SEC63_HUMAN	SEC63	HGNC	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	A6PVC9_HUMAN		11	1250	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	UPI000000DBBB	327			SEC63 1.|Cytoplasmic (Potential).		SNV	SEC63,missense_variant,p.Lys327Asn,ENST00000369002,NM_007214.4;SEC63,downstream_gene_variant,,ENST00000429168,;SEC63,upstream_gene_variant,,ENST00000466419,;SEC63,downstream_gene_variant,,ENST00000489455,;	uc003psc.3	c.981A>C	1161/6411	3	3			c.981A>C						6	SNP	c.(979-981)AAA>AAC	9	9			ovary(1)|skin(1)	2	Broad	SEC63-like protein			108225906		0.348	ENSG00000025796	13785	g.chr6:108225906T>G	protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding							446.997329	KEEP	72	74	-1	85	103	72	74	-1	447.957138	85	103	0.438356	1	0	0	0	0	1	0	0	0	--	--		0	G			SEC63_uc003psb.3_Missense_Mutation_p.K187N	25	GBM-06-0152-TP	p.K327N	T	CAGGACACTTTTTTAGCATGA	NM_007214	NP_009145	108225906	Q9UGP8	SEC63_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	11	1250	-	G	G		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	Missense_Mutation	327			SEC63 1.|Cytoplasmic (Potential).			
SECISBP2	79048		GRCh37	9	91973081	91973081	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000375807.3:c.2436G>A	p.Leu812=	p.L812=	ENST00000375807	NM_024077.3	812	ctG/ctA	0																																																																																																																																																																																																																																												
SECISBP2L	0	broad.mit.edu	GRCh37	15	49325161	49325161	+	splice_donor_variant	Splice_Site	SNP	C	C	G			TCGA-27-2521-01	TCGA-27-2521-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000559471.1:c.664+1G>C		p.X222_splice	ENST00000559471	NM_001193489.1			0			1			G		uc001zxe.1	protein_coding	YES	CCDS53942.1			664/3306									breast(1)|skin(1)	2	c.e4+1				SECIS binding protein 2-like				ENSP00000453854											COSM3401788,COSM3401787		.		ENST00000559471	Transcript						ENSG00000138593	g.chr15:49325161C>G	28997			HIGH	17-Apr							--	--	1																																		SECISBP2L_uc001zxd.1_Splice_Site_p.D222_splice|SECISBP2L_uc010bep.1_Splice_Site|SECISBP2L_uc010beq.1_Intron	1,1	1			p.D222_splice	NM_014701	NP_055516			1,1	SBP2L_HUMAN	SECISBP2L	HGNC	Q93073	SBP2L_HUMAN			J3KPI1_HUMAN		4	798	-			UPI00001C1F8B						SNV	SECISBP2L,splice_donor_variant,,ENST00000559471,NM_001193489.1;SECISBP2L,splice_donor_variant,,ENST00000261847,NM_014701.3;SECISBP2L,splice_donor_variant,,ENST00000380927,;SECISBP2L,intron_variant,,ENST00000559424,;SECISBP2L,downstream_gene_variant,,ENST00000557923,;	uc001zxe.1	c.664_splice	-/7176	5	3			c.664_splice						15	SNP	c.e4+1	9	9			breast(1)|skin(1)	2	Broad	SECIS binding protein 2-like			49325161		0.393	ENSG00000138593	13787	g.chr15:49325161C>G										447.539092	KEEP	65	81	-1	111	137	65	81	-1	452.512232	111	137	0.371345	1	0	0	0	0	0	0	0	1	--	--		0	G			SECISBP2L_uc001zxd.1_Splice_Site_p.D222_splice|SECISBP2L_uc010bep.1_Splice_Site|SECISBP2L_uc010beq.1_Intron	200	GBM-27-2521-TP	p.D222_splice	C	CCTTGCCTTACCAGTTTGCTG	NM_014701	NP_055516	49325161	Q93073	SBP2L_HUMAN	0			4	798	-	G	G			Splice_Site							
SECISBP2L	0	broad.mit.edu	GRCh37	15	49325180	49325180	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-27-2521-01	TCGA-27-2521-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000559471.1:c.646G>C	p.Asp216His	p.D216H	ENST00000559471	NM_001193489.1	216	Gat/Cat	0			1			G	D/H	uc001zxe.1	protein_coding	YES	CCDS53942.1			646/3306									breast(1)|skin(1)	2	c.(646-648)GAT>CAT			hmmpanther:PTHR13284,hmmpanther:PTHR13284:SF10	SECIS binding protein 2-like				ENSP00000453854		18-Apr									COSM3401790,COSM3401789	18-Apr	.		ENST00000559471	Transcript						ENSG00000138593	g.chr15:49325180C>G	28997			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=SBP2L_HUMAN&rb=9&re=323&var=D216H	NA	getma.org/?cm=var&var=hg19,15,49325180,C,G&fts=all	D216H	--	--	1																																		SECISBP2L_uc001zxd.1_Missense_Mutation_p.D216H|SECISBP2L_uc010bep.1_5'UTR|SECISBP2L_uc010beq.1_Intron	1,1	1		probably_damaging(0.999)	p.D216H	NM_014701	NP_055516		deleterious(0)	1,1	SBP2L_HUMAN	SECISBP2L	HGNC	Q93073	SBP2L_HUMAN			J3KPI1_HUMAN		4	780	-			UPI00001C1F8B	216					SNV	SECISBP2L,missense_variant,p.Asp216His,ENST00000559471,NM_001193489.1;SECISBP2L,missense_variant,p.Asp216His,ENST00000261847,NM_014701.3;SECISBP2L,5_prime_UTR_variant,,ENST00000380927,;SECISBP2L,intron_variant,,ENST00000559424,;SECISBP2L,downstream_gene_variant,,ENST00000557923,;	uc001zxe.1	c.646G>C	910/7176	3	3			c.646G>C						15	SNP	c.(646-648)GAT>CAT	50	50			breast(1)|skin(1)	2	Broad	SECIS binding protein 2-like			49325180		0.398	ENSG00000138593	13787	g.chr15:49325180C>G										412.003197	KEEP	69	75	-1	116	142	69	75	-1	418.485534	116	142	0.352941	1	0	0	0	0	1	0	0	0	--	--		0	G			SECISBP2L_uc001zxd.1_Missense_Mutation_p.D216H|SECISBP2L_uc010bep.1_5'UTR|SECISBP2L_uc010beq.1_Intron	200	GBM-27-2521-TP	p.D216H	C	TGTGAAGCATCTACCAGAAGC	NM_014701	NP_055516	49325180	Q93073	SBP2L_HUMAN	0			4	780	-	G	G			Missense_Mutation	216						
SECISBP2L	0	broad.mit.edu	GRCh37	15	49284790	49284790	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01	TCGA-41-4097-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000559471.1:c.2957G>A	p.Gly986Asp	p.G986D	ENST00000559471	NM_001193489.1	986	gGc/gAc	0			1			T	G/D	uc001zxe.1	protein_coding	YES	CCDS53942.1			2957/3306									breast(1)|skin(1)	2	c.(2956-2958)GGC>GAC			hmmpanther:PTHR13284,hmmpanther:PTHR13284:SF10	SECIS binding protein 2-like				ENSP00000453854		18/18									COSM3401786,COSM3401785	18/18	.		ENST00000559471	Transcript						ENSG00000138593	g.chr15:49284790C>T	28997			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=SBP2L_HUMAN&rb=805&re=1004&var=G986D	NA	getma.org/?cm=var&var=hg19,15,49284790,C,T&fts=all	G986D	--	--	1																																		SECISBP2L_uc001zxd.1_Missense_Mutation_p.G941D	1,1	1		possibly_damaging(0.899)	p.G986D	NM_014701	NP_055516		tolerated(0.07)	1,1	SBP2L_HUMAN	SECISBP2L	HGNC	Q93073	SBP2L_HUMAN			J3KPI1_HUMAN		18	3091	-			UPI00001C1F8B	986					SNV	SECISBP2L,missense_variant,p.Gly986Asp,ENST00000559471,NM_001193489.1;SECISBP2L,missense_variant,p.Gly941Asp,ENST00000261847,NM_014701.3;SECISBP2L,intron_variant,,ENST00000561428,;SECISBP2L,downstream_gene_variant,,ENST00000380927,;Y_RNA,downstream_gene_variant,,ENST00000384377,;	uc001zxe.1	c.2957G>A	3221/7176	2	2			c.2957G>A						15	SNP	c.(2956-2958)GGC>GAC	31	31			breast(1)|skin(1)	2	Broad	SECIS binding protein 2-like			49284790		0.383	ENSG00000138593	13787	g.chr15:49284790C>T										-16.051124	KEEP	1	2	-1	58	39	1	2	-1	7.037865	58	39	0.03125	1	0	0	0	0	1	0	0	0	--	--		0	T			SECISBP2L_uc001zxd.1_Missense_Mutation_p.G941D	257	GBM-41-4097-TP	p.G986D	C	ttcAAGCATGCCAGGTACAAG	NM_014701	NP_055516	49284790	Q93073	SBP2L_HUMAN	0			18	3091	-	T	T			Missense_Mutation	986						
SEL1L2	80343	broad.mit.edu	GRCh37	20	13899669	13899669	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0743-01	TCGA-06-0743-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378072.5:c.384A>T	p.Glu128Asp	p.E128D	ENST00000378072	NM_001271539.1	128	gaA/gaT	0			1			A	E/D	uc010gcf.2	protein_coding					384/2067									ovary(2)	2	c.(382-384)GAA>GAT			hmmpanther:PTHR11102:SF53,hmmpanther:PTHR11102,Pfam_domain:PF08238,Gene3D:1.25.40.10,SMART_domains:SM00671,Superfamily_domains:SSF81901	sel-1 suppressor of lin-12-like 2 precursor				ENSP00000284951		20-Apr									COSM3404939	20-Apr	.		ENST00000284951	Transcript				integral to membrane	binding	ENSG00000101251	g.chr20:13899669T>A	15897			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=SE1L2_HUMAN&rb=110&re=142&var=E128D	NA	getma.org/?cm=var&var=hg19,20,13899669,T,A&fts=all	E128D	--	--	1																																		SEL1L2_uc002woq.3_Translation_Start_Site|SEL1L2_uc010zrl.1_Missense_Mutation_p.E128D|SEL1L2_uc002wor.2_RNA	1			benign(0.307)	p.E128D	NM_025229	NP_079505		tolerated(0.43)	1	SE1L2_HUMAN	SEL1L2	HGNC	Q5TEA6	SE1L2_HUMAN			C9JNX3_HUMAN		4	466	-			UPI000003BCBA	128			Extracellular (Potential).|Sel1-like 1.		SNV	SEL1L2,missense_variant,p.Glu128Asp,ENST00000284951,;SEL1L2,missense_variant,p.Glu128Asp,ENST00000378072,NM_001271539.1;SEL1L2,missense_variant,p.Glu16Asp,ENST00000473203,;SEL1L2,splice_region_variant,,ENST00000486903,;SEL1L2,splice_region_variant,,ENST00000476952,;SEL1L2,missense_variant,p.Glu128Asp,ENST00000423870,;	uc010gcf.2	c.384A>T	459/2224	2	2			c.384A>T						20	SNP	c.(382-384)GAA>GAT	25	25			ovary(2)	2	Broad	sel-1 suppressor of lin-12-like 2 precursor			13899669		0.343	ENSG00000101251	13791	g.chr20:13899669T>A		integral to membrane	binding							89.797782	KEEP	21	22	-1	51	69	21	22	-1	97.689712	51	69	0.255172	1	0	0	0	0	1	0	0	0	--	--		0	A			SEL1L2_uc002woq.3_Translation_Start_Site|SEL1L2_uc010zrl.1_Missense_Mutation_p.E128D|SEL1L2_uc002wor.2_RNA	65	GBM-06-0743-TP	p.E128D	T	AGACTTACTCTTCTTTTTGTT	NM_025229	NP_079505	13899669	Q5TEA6	SE1L2_HUMAN	0			4	466	-	A	A			Missense_Mutation	128			Extracellular (Potential).|Sel1-like 1.			
SEL1L2	0	broad.mit.edu	GRCh37	20	13830889	13830889	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01	TCGA-76-6192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284951.5:c.1895C>T	p.Ala632Val	p.A632V	ENST00000284951		632	gCc/gTc	0			1			A	A/V	uc010gcf.2	protein_coding					1895/2067									ovary(2)	2	c.(1894-1896)GCC>GTC			hmmpanther:PTHR11102:SF53,hmmpanther:PTHR11102	sel-1 suppressor of lin-12-like 2 precursor				ENSP00000284951		19/20									COSM2703355	19/20	.		ENST00000284951	Transcript				integral to membrane	binding	ENSG00000101251	g.chr20:13830889G>A	15897			MODERATE		2.365	medium	getma.org/?cm=msa&ty=f&p=SE1L2_HUMAN&rb=622&re=688&var=A632V	NA	getma.org/?cm=var&var=hg19,20,13830889,G,A&fts=all	A632V	--	--	1																																		SEL1L2_uc002woq.3_Missense_Mutation_p.A493V|SEL1L2_uc010zrl.1_Missense_Mutation_p.A519V|SEL1L2_uc002wor.2_RNA	1			probably_damaging(0.999)	p.A632V	NM_025229	NP_079505		deleterious(0.01)	1	SE1L2_HUMAN	SEL1L2	HGNC	Q5TEA6	SE1L2_HUMAN			C9JNX3_HUMAN		19	1977	-			UPI000003BCBA	632			Extracellular (Potential).		SNV	SEL1L2,missense_variant,p.Ala632Val,ENST00000284951,;SEL1L2,missense_variant,p.Ala519Val,ENST00000378072,NM_001271539.1;SEL1L2,non_coding_transcript_exon_variant,,ENST00000486903,;SEL1L2,non_coding_transcript_exon_variant,,ENST00000482196,;SEL1L2,non_coding_transcript_exon_variant,,ENST00000492548,;SEL1L2,3_prime_UTR_variant,,ENST00000423870,;SEL1L2,3_prime_UTR_variant,,ENST00000475649,;	uc010gcf.2	c.1895C>T	1970/2224	1	1			c.1895C>T						20	SNP	c.(1894-1896)GCC>GTC	52	52			ovary(2)	2	Broad	sel-1 suppressor of lin-12-like 2 precursor			13830889		0.458	ENSG00000101251	13791	g.chr20:13830889G>A		integral to membrane	binding							-9.241872	KEEP	4	1	-1	34	42	4	1	-1	6.609564	34	42	0.053333	1	0	0	0	0	1	0	0	0	--	--		0	A			SEL1L2_uc002woq.3_Missense_Mutation_p.A493V|SEL1L2_uc010zrl.1_Missense_Mutation_p.A519V|SEL1L2_uc002wor.2_RNA	275	GBM-76-6192-TP	p.A632V	G	TTTCATGACGGCAAAGAGCAC	NM_025229	NP_079505	13830889	Q5TEA6	SE1L2_HUMAN	0			19	1977	-	A	A			Missense_Mutation	632			Extracellular (Potential).			
SEL1L3	23231	broad.mit.edu	GRCh37	4	25819779	25819779	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5417-01	TCGA-06-5417-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399878.3:c.1545G>A	p.Leu515=	p.L515=	ENST00000399878	NM_015187.3	515	ctG/ctA	0			1			T	L	uc003gru.3	protein_coding	YES	CCDS47037.1			1545/3399										0	c.(1543-1545)CTG>CTA			hmmpanther:PTHR11102,hmmpanther:PTHR11102:SF58	sel-1 suppressor of lin-12-like 3				ENSP00000382767		24-Sep	8.27E-06			0.000145					rs764219010,COSM3409241,COSM3409239,COSM3409240	24-Sep	.		ENST00000399878	Transcript				integral to membrane	binding	ENSG00000091490	g.chr4:25819779C>T	29108			LOW								--	--	1																																			0,1,1,1	1			p.L515L	NM_015187	NP_056002			0,1,1,1	SE1L3_HUMAN	SEL1L3	HGNC	Q68CR1	SE1L3_HUMAN			D6RF11_HUMAN,D6RDH1_HUMAN,D6RCE1_HUMAN,B4DTH5_HUMAN		9	1697	-			UPI00001D7736	515					SNV	SEL1L3,synonymous_variant,p.=,ENST00000399878,NM_015187.3;SEL1L3,synonymous_variant,p.=,ENST00000264868,;SEL1L3,synonymous_variant,p.=,ENST00000502949,;	uc003gru.3	c.1545G>A	1668/4514	2	2			c.1545G>A						4	SNP	c.(1543-1545)CTG>CTA	28	28				0	Broad	sel-1 suppressor of lin-12-like 3			25819779		0.537	ENSG00000091490	13792	g.chr4:25819779C>T		integral to membrane	binding							33.415195	KEEP	8	6	-1	9	11	8	6	-1	33.991311	9	11	0.354839	1	0	0	0	0	0	0	1	0	--	--		0	T				99	GBM-06-5417-TP	p.L515L	C	GATCCATCTCCAGCAATGCCT	NM_015187	NP_056002	25819779	Q68CR1	SE1L3_HUMAN	0			9	1697	-	T	T			Silent	515						
SELE	6401	broad.mit.edu	GRCh37	1	169698774	169698774	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0124-01	TCGA-06-0124-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333360.7:c.756C>T	p.Phe252=	p.F252=	ENST00000333360	NM_000450.2	252	ttC/ttT	0			1			A	F	uc001ggm.3	protein_coding	YES	CCDS1283.1			756/1833									ovary(3)|skin(2)	5	c.(754-756)TTC>TTT			Gene3D:2.10.70.10,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF336,SMART_domains:SM00032,Superfamily_domains:SSF57535	selectin E precursor				ENSP00000331736		14-Jun	4.94E-05			0.000462				0.000121	rs752115354,COSM207785	14-Jun	common_variant		ENST00000333360	Transcript			actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	ENSG00000007908	g.chr1:169698774G>A	10718			LOW								--	--	1																																		C1orf112_uc001ggj.2_Intron	0,1	1			p.F252F	NM_000450	NP_000441			0,1	LYAM2_HUMAN	SELE	HGNC	P16581	LYAM2_HUMAN					6	913	-	all_hematologic(923;0.208)		UPI000012E44A	252			Sushi 2.|Extracellular (Potential).		SNV	SELE,synonymous_variant,p.=,ENST00000333360,NM_000450.2;SELE,synonymous_variant,p.=,ENST00000367782,;SELE,synonymous_variant,p.=,ENST00000367781,;SELE,synonymous_variant,p.=,ENST00000367777,;SELE,synonymous_variant,p.=,ENST00000367776,;SELE,synonymous_variant,p.=,ENST00000367780,;SELE,synonymous_variant,p.=,ENST00000367779,;SELE,synonymous_variant,p.=,ENST00000367775,;SELE,synonymous_variant,p.=,ENST00000367774,;SELE,downstream_gene_variant,,ENST00000609271,;C1orf112,intron_variant,,ENST00000498289,;SELE,downstream_gene_variant,,ENST00000461085,;	uc001ggm.3	c.756C>T	896/3857	1	1			c.756C>T						1	SNP	c.(754-756)TTC>TTT	53	53			ovary(3)|skin(2)	5	Broad	selectin E precursor			169698774		0.428	ENSG00000007908	13793	g.chr1:169698774G>A	actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity							115.367156	KEEP	37	15	-1	87	66	37	15	-1	124.950051	87	66	0.256983	1	0	0	0	0	0	0	1	0	--	--		0	A			C1orf112_uc001ggj.2_Intron	11	GBM-06-0124-TP	p.F252F	G	AACATTCCACGAACCCATTGG	NM_000450	NP_000441	169698774	P16581	LYAM2_HUMAN	0			6	913	-	A	A	all_hematologic(923;0.208)		Silent	252			Sushi 2.|Extracellular (Potential).			
SELE	6401	broad.mit.edu	GRCh37	1	169697312	169697312	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs139137736		TCGA-06-2562-01	TCGA-06-2562-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333360.7:c.1166G>A	p.Arg389His	p.R389H	ENST00000333360	NM_000450.2	389	cGt/cAt	0	T:0.0005		1			T	R/H	uc001ggm.3	protein_coding	YES	CCDS1283.1			1166/1833									ovary(3)|skin(2)	5	c.(1165-1167)CGT>CAT			Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF336,SMART_domains:SM00032,Superfamily_domains:SSF57535	selectin E precursor			T:0	ENSP00000331736		14-Aug	0.00056	0.000577	0.00415			0.000135	0.00551		rs139137736,COSM2152802	14-Aug	common_variant		ENST00000333360	Transcript			actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	ENSG00000007908	g.chr1:169697312C>T	10718			MODERATE		0.475	neutral	getma.org/?cm=msa&ty=f&p=LYAM2_HUMAN&rb=367&re=425&var=R389H	getma.org/pdb.php?prot=LYAM2_HUMAN&from=367&to=425&var=R389H	getma.org/?cm=var&var=hg19,1,169697312,C,T&fts=all	R389H	--	--	1																																		C1orf112_uc001ggj.2_Intron	0,1	1		benign(0.001)	p.R389H	NM_000450	NP_000441		tolerated(0.15)	0,1	LYAM2_HUMAN	SELE	HGNC	P16581	LYAM2_HUMAN					8	1323	-	all_hematologic(923;0.208)		UPI000012E44A	389			Sushi 4.|Extracellular (Potential).		SNV	SELE,missense_variant,p.Arg389His,ENST00000333360,NM_000450.2;SELE,missense_variant,p.Arg389His,ENST00000367782,;SELE,missense_variant,p.Arg389His,ENST00000367777,;SELE,intron_variant,,ENST00000367781,;SELE,intron_variant,,ENST00000367776,;SELE,intron_variant,,ENST00000367780,;SELE,intron_variant,,ENST00000367779,;SELE,intron_variant,,ENST00000367775,;SELE,intron_variant,,ENST00000367774,;C1orf112,intron_variant,,ENST00000498289,;SELE,downstream_gene_variant,,ENST00000461085,;	uc001ggm.3	c.1166G>A	1306/3857	1	1			c.1166G>A						1	SNP	c.(1165-1167)CGT>CAT	11	11			ovary(3)|skin(2)	5	Broad	selectin E precursor			169697312		0.522	ENSG00000007908	13793	g.chr1:169697312C>T	actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity							211.086269	KEEP	30	45	-1	64	79	30	45	-1	213.942358	64	79	0.369792	1	0	0	0	0	1	0	0	0	--	--		0	T			C1orf112_uc001ggj.2_Intron	85	GBM-06-2562-TP	p.R389H	C	GGACCCATAACGGAAACTGCC	NM_000450	NP_000441	169697312	P16581	LYAM2_HUMAN	0			8	1323	-	T	T	all_hematologic(923;0.208)		Missense_Mutation	389			Sushi 4.|Extracellular (Potential).			
SELE	6401	broad.mit.edu	GRCh37	1	169698774	169698774	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5408-01	TCGA-06-5408-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333360.7:c.756C>T	p.Phe252=	p.F252=	ENST00000333360	NM_000450.2	252	ttC/ttT	0			1			A	F	uc001ggm.3	protein_coding	YES	CCDS1283.1			756/1833									ovary(3)|skin(2)	5	c.(754-756)TTC>TTT			Gene3D:2.10.70.10,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF336,SMART_domains:SM00032,Superfamily_domains:SSF57535	selectin E precursor				ENSP00000331736		14-Jun	4.94E-05			0.000462				0.000121	rs752115354,COSM207785	14-Jun	common_variant		ENST00000333360	Transcript			actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	ENSG00000007908	g.chr1:169698774G>A	10718			LOW								--	--	1																																		C1orf112_uc001ggj.2_Intron	0,1	1			p.F252F	NM_000450	NP_000441			0,1	LYAM2_HUMAN	SELE	HGNC	P16581	LYAM2_HUMAN					6	913	-	all_hematologic(923;0.208)		UPI000012E44A	252			Sushi 2.|Extracellular (Potential).		SNV	SELE,synonymous_variant,p.=,ENST00000333360,NM_000450.2;SELE,synonymous_variant,p.=,ENST00000367782,;SELE,synonymous_variant,p.=,ENST00000367781,;SELE,synonymous_variant,p.=,ENST00000367777,;SELE,synonymous_variant,p.=,ENST00000367776,;SELE,synonymous_variant,p.=,ENST00000367780,;SELE,synonymous_variant,p.=,ENST00000367779,;SELE,synonymous_variant,p.=,ENST00000367775,;SELE,synonymous_variant,p.=,ENST00000367774,;SELE,downstream_gene_variant,,ENST00000609271,;C1orf112,intron_variant,,ENST00000498289,;SELE,downstream_gene_variant,,ENST00000461085,;	uc001ggm.3	c.756C>T	896/3857	1	1			c.756C>T						1	SNP	c.(754-756)TTC>TTT	53	53			ovary(3)|skin(2)	5	Broad	selectin E precursor			169698774		0.428	ENSG00000007908	13793	g.chr1:169698774G>A	actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity							164.460568	KEEP	30	32	-1	37	38	30	32	-1	164.815973	37	38	0.441667	1	0	0	0	0	0	0	1	0	--	--		0	A			C1orf112_uc001ggj.2_Intron	92	GBM-06-5408-TP	p.F252F	G	AACATTCCACGAACCCATTGG	NM_000450	NP_000441	169698774	P16581	LYAM2_HUMAN	0			6	913	-	A	A	all_hematologic(923;0.208)		Silent	252			Sushi 2.|Extracellular (Potential).			
SELE	6401		GRCh37	1	169698648	169698648	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000333360.7:c.882C>T	p.Asn294=	p.N294=	ENST00000333360	NM_000450.2	294	aaC/aaT	0																																																																																																																																																																																																																																												
SELP	0	broad.mit.edu	GRCh37	1	169562857	169562857	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263686.6:c.2393G>A	p.Arg798His	p.R798H	ENST00000263686	NM_003005.3	798	cGt/cAt	0		T:0	1	T:0.0014		T	R/H	uc001ggi.3	protein_coding	YES	CCDS1282.1			2393/2493									ovary(2)|skin(2)	4	c.(2392-2394)CGT>CAT				selectin P precursor	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	T:0		ENSP00000263686	T:0.001	14/17									rs201454112,COSM3399970,COSM3399969	14/17	.		ENST00000263686	Transcript	1	T:0.0004	platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	ENSG00000174175	g.chr1:169562857C>T	10721			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=LYAM3_HUMAN&rb=762&re=830&var=R798H	NA	getma.org/?cm=var&var=hg19,1,169562857,C,T&fts=all	R798H	--	--	1																																		SELP_uc001ggh.2_Intron|SELP_uc009wvr.2_Missense_Mutation_p.R797H	0,1,1	1		benign(0.353)	p.R798H	NM_003005	NP_002996	T:0	deleterious(0)	0,1,1	LYAM3_HUMAN	SELP	HGNC	P16109	LYAM3_HUMAN			Q6ULR6_HUMAN		14	2458	-	all_hematologic(923;0.208)		UPI0000204D4A	798			Cytoplasmic (Potential).		SNV	SELP,missense_variant,p.Arg798His,ENST00000263686,NM_003005.3;SELP,missense_variant,p.Arg736His,ENST00000367794,;SELP,missense_variant,p.Arg736His,ENST00000367793,;SELP,missense_variant,p.Arg614His,ENST00000367792,;SELP,missense_variant,p.Arg612His,ENST00000367791,;SELP,missense_variant,p.Arg736His,ENST00000367788,;SELP,missense_variant,p.Arg736His,ENST00000367786,;SELP,missense_variant,p.Arg614His,ENST00000458599,;SELP,intron_variant,,ENST00000426706,;SELP,upstream_gene_variant,,ENST00000466167,;	uc001ggi.3	c.2393G>A	2431/3142	2	2			c.2393G>A						1	SNP	c.(2392-2394)CGT>CAT	26	26			ovary(2)|skin(2)	4	Broad	selectin P precursor		Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	169562857		0.423	ENSG00000174175	13799	g.chr1:169562857C>T	platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding							103.79943	KEEP	17	26	-1	37	18	17	26	-1	104.048752	37	18	0.443182	1	0	0	0	0	1	0	0	0	--	--		0	T			SELP_uc001ggh.2_Intron|SELP_uc009wvr.2_Missense_Mutation_p.R797H	131	GBM-12-5301-TP	p.R798H	C	TTGTCTGAAACGCTTTCTTAG	NM_003005	NP_002996	169562857	P16109	LYAM3_HUMAN	0			14	2458	-	T	T	all_hematologic(923;0.208)		Missense_Mutation	798			Cytoplasmic (Potential).			
SELPLG	0	broad.mit.edu	GRCh37	12	109017719	109017719	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-2495-01	TCGA-32-2495-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000550948.1:c.365A>G	p.Gln122Arg	p.Q122R	ENST00000550948		122	cAg/cGg	0			1			C	Q/R	uc001tni.2	protein_coding		CCDS31895.2			365/1239										0	c.(364-366)CAG>CGG			hmmpanther:PTHR17384,hmmpanther:PTHR17384:SF0,Low_complexity_(Seg):seg	selectin P ligand				ENSP00000447752		2-Feb									COSM3398307,COSM3398306	2-Feb	.		ENST00000550948	Transcript			blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding	ENSG00000110876	g.chr12:109017719T>C	10722			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=SELPL_HUMAN&rb=101&re=289&var=Q122R	NA	getma.org/?cm=var&var=hg19,12,109017719,T,C&fts=all	Q122R	--	--	1																																		SELPLG_uc001tnh.2_Missense_Mutation_p.Q122R|SELPLG_uc010sxe.1_Missense_Mutation_p.Q138R	1,1			unknown(0)	p.Q122R	NM_003006	NP_002997		tolerated(0.54)	1,1	SELPL_HUMAN	SELPLG	HGNC	Q14242	SELPL_HUMAN			B4DT54_HUMAN		2	525	-			UPI0000135861	122			1.|Extracellular (Potential).|12 X 10 AA tandem repeats.		SNV	SELPLG,missense_variant,p.Gln122Arg,ENST00000388962,NM_003006.4;SELPLG,missense_variant,p.Gln122Arg,ENST00000550948,;SELPLG,missense_variant,p.Gln138Arg,ENST00000228463,NM_001206609.1;RP11-689B22.2,upstream_gene_variant,,ENST00000550306,;	uc001tni.2	c.365A>G	590/2256	4	4			c.365A>G						12	SNP	c.(364-366)CAG>CGG	36	36				0	Broad	selectin P ligand			109017719		0.602	ENSG00000110876	13800	g.chr12:109017719T>C	blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding							33.044096	KEEP	6	10	-1	44	43	6	10	-1	41.418581	44	43	0.181818	1	0	0	0	0	1	0	0	0	--	--		0	C			SELPLG_uc001tnh.2_Missense_Mutation_p.Q122R|SELPLG_uc010sxe.1_Missense_Mutation_p.Q138R	237	GBM-32-2495-TP	p.Q122R	T	TTGAGTGGTCTGTATCTCCAT	NM_003006	NP_002997	109017719	Q14242	SELPL_HUMAN	0			2	525	-	C	C			Missense_Mutation	122			1.|Extracellular (Potential).|12 X 10 AA tandem repeats.			
SELPLG	6404		GRCh37	12	109017957	109017957	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0151-01	TCGA-06-0151-01																				ENST00000228463.6:c.175del	p.Ala59ProfsTer7	p.A59Pfs*7	ENST00000228463	NM_001206609.1	59	Gcc/cc	0																																																																																																																																																																																																																																												
SELT	0	broad.mit.edu	GRCh37	3	150321196	150321196	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01	TCGA-32-2495-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000471696.1:c.47G>A	p.Arg16Gln	p.R16Q	ENST00000471696	NM_016275.3	16	cGg/cAg	0			1			A	R/Q	uc011bnx.1	protein_coding	YES	CCDS46936.1			47/588										0	c.(46-48)CGG>CAG			hmmpanther:PTHR13544,hmmpanther:PTHR13544:SF0,Cleavage_site_(Signalp):SignalP-noTM	selenoprotein T precursor				ENSP00000418910		6-Jan									COSM3408344	6-Jan	.		ENST00000471696	Transcript			cell redox homeostasis|selenocysteine incorporation		selenium binding	ENSG00000198843	g.chr3:150321196G>A				MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=SELT_HUMAN&rb=1&re=38&var=R16Q	NA	getma.org/?cm=var&var=hg19,3,150321196,G,A&fts=all	R16Q	--	--	1																																		SERP1_uc003exz.2_5'Flank|uc003eye.1_5'Flank	1	1		benign(0)	p.R16Q	NM_016275	NP_057359		tolerated(0.68)	1	SELT_HUMAN	SELT	Uniprot_gn	P62341	SELT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		Q6IAK0_HUMAN,F8WBD0_HUMAN		1	131	+			UPI000034ECC3	16	RSE -> WSD (in Ref. 4; AAH09611).				SNV	SELT,missense_variant,p.Arg16Gln,ENST00000471696,NM_016275.3;SELT,5_prime_UTR_variant,,ENST00000485923,;SELT,5_prime_UTR_variant,,ENST00000477889,;SELT,intron_variant,,ENST00000480740,;SERP1,upstream_gene_variant,,ENST00000479209,;SERP1,upstream_gene_variant,,ENST00000490945,;SERP1,upstream_gene_variant,,ENST00000491195,;SERP1,upstream_gene_variant,,ENST00000484608,;SELT,missense_variant,p.Arg16Gln,ENST00000492132,;	uc011bnx.1	c.47G>A	122/3469	2	2			c.47G>A						3	SNP	c.(46-48)CGG>CAG	43	43				0	Broad	selenoprotein T precursor			150321196		0.597	ENSG00000198843	13802	g.chr3:150321196G>A	cell redox homeostasis|selenocysteine incorporation		selenium binding							2.600746	KEEP	1	2	-1	15	21	1	2	-1	8.686529	15	21	0.085714	1	0	0	0	0	1	0	0	0	--	--		0	A			SERP1_uc003exz.2_5'Flank|uc003eye.1_5'Flank	237	GBM-32-2495-TP	p.R16Q	G	GCGATGGTCCGGAGCGAGGCC	NM_016275	NP_057359	150321196	P62341	SELT_HUMAN	0	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		1	131	+	A	A			Missense_Mutation	16	RSE -> WSD (in Ref. 4; AAH09611).					
SEMA3C	10512	broad.mit.edu	GRCh37	7	80546078	80546078	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-02-0033-01	TCGA-02-0033-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265361.3:c.20G>T	p.Cys7Phe	p.C7F	ENST00000265361	NM_006379.3	7	tGc/tTc	0			1			A	C/F	uc003uhj.2	protein_coding	YES	CCDS5596.1			20/2256									ovary(1)	1	c.(19-21)TGC>TTC			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11036:SF25,hmmpanther:PTHR11036	semaphorin 3C precursor				ENSP00000265361		18-Feb									COSM3412337,COSM3412338	18-Feb	.		ENST00000265361	Transcript	1		immune response|response to drug	membrane	receptor activity	ENSG00000075223	g.chr7:80546078C>A	10725			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=SEM3C_HUMAN&rb=1&re=53&var=C7F	NA	getma.org/?cm=var&var=hg19,7,80546078,C,A&fts=all	C7F	--	--	1																																		SEMA3C_uc011kgw.1_Missense_Mutation_p.C25F|SEMA3C_uc011kgx.1_5'UTR	1,1	1		benign(0)	p.C7F	NM_006379	NP_006370		tolerated(0.77)	1,1	SEM3C_HUMAN	SEMA3C	HGNC	Q99985	SEM3C_HUMAN			Q75MX0_HUMAN,Q75L25_HUMAN		2	582	-			UPI000011C137	7					SNV	SEMA3C,missense_variant,p.Cys7Phe,ENST00000265361,NM_006379.3;SEMA3C,missense_variant,p.Cys7Phe,ENST00000419255,;SEMA3C,missense_variant,p.Cys25Phe,ENST00000544525,;SEMA3C,5_prime_UTR_variant,,ENST00000536800,;SEMA3C,non_coding_transcript_exon_variant,,ENST00000487621,;SEMA3C,non_coding_transcript_exon_variant,,ENST00000470581,;SEMA3C,missense_variant,p.Cys7Phe,ENST00000458729,;SEMA3C,missense_variant,p.Cys7Phe,ENST00000427167,;SEMA3C,missense_variant,p.Cys7Phe,ENST00000411788,;	uc003uhj.2	c.20G>T	582/5174	1	1			c.20G>T						7	SNP	c.(19-21)TGC>TTC	56	56			ovary(1)	1	Broad	semaphorin 3C precursor			80546078		0.353	ENSG00000075223	13806	g.chr7:80546078C>A	immune response|response to drug	membrane	receptor activity							41.300252	KEEP	9	24	0.727272727	123	137	9	24	0.727272727	77.461574	123	137	0.123077	1	0	0	0	0	1	0	0	0	--	--		0	A			SEMA3C_uc011kgw.1_Missense_Mutation_p.C25F|SEMA3C_uc011kgx.1_5'UTR	2	GBM-02-0033-TP	p.C7F	C	AACCAACACGCAAATTGTCCG	NM_006379	NP_006370	80546078	Q99985	SEM3C_HUMAN	0			2	582	-	A	A			Missense_Mutation	7						
SEMA3C	10512	broad.mit.edu	GRCh37	7	80387714	80387714	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-02-2483-01	TCGA-02-2483-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265361.3:c.1576C>G	p.Leu526Val	p.L526V	ENST00000265361	NM_006379.3	526	Ctg/Gtg	0			1			C	L/V	uc003uhj.2	protein_coding	YES	CCDS5596.1			1576/2256									ovary(1)	1	c.(1576-1578)CTG>GTG			hmmpanther:PTHR11036:SF25,hmmpanther:PTHR11036,Gene3D:3.30.1680.10,SMART_domains:SM00423,Superfamily_domains:SSF103575	semaphorin 3C precursor				ENSP00000265361		15/18									COSM2149134,COSM2149135	15/18	.		ENST00000265361	Transcript	1		immune response|response to drug	membrane	receptor activity	ENSG00000075223	g.chr7:80387714G>C	10725			MODERATE		3.555	high	getma.org/?cm=msa&ty=f&p=SEM3C_HUMAN&rb=496&re=578&var=L526V	getma.org/pdb.php?prot=SEM3C_HUMAN&from=496&to=578&var=L526V	getma.org/?cm=var&var=hg19,7,80387714,G,C&fts=all	L526V	--	--	1																																		SEMA3C_uc011kgw.1_Missense_Mutation_p.L544V	1,1	1		probably_damaging(0.985)	p.L526V	NM_006379	NP_006370		deleterious(0)	1,1	SEM3C_HUMAN	SEMA3C	HGNC	Q99985	SEM3C_HUMAN			Q75MX0_HUMAN,Q75L25_HUMAN		15	2138	-			UPI000011C137	526					SNV	SEMA3C,missense_variant,p.Leu526Val,ENST00000265361,NM_006379.3;SEMA3C,missense_variant,p.Leu526Val,ENST00000419255,;SEMA3C,missense_variant,p.Leu544Val,ENST00000544525,;	uc003uhj.2	c.1576C>G	2138/5174	4	4			c.1576C>G						7	SNP	c.(1576-1578)CTG>GTG	41	41			ovary(1)	1	Broad	semaphorin 3C precursor			80387714		0.522	ENSG00000075223	13806	g.chr7:80387714G>C	immune response|response to drug	membrane	receptor activity							179.70601	KEEP	30	43	-1	40	74	30	43	-1	181.57825	40	74	0.381579	1	0	0	0	0	1	0	0	0	--	--		0	C			SEMA3C_uc011kgw.1_Missense_Mutation_p.L544V	6	GBM-02-2483-TP	p.L526V	G	TCCCGCGCCAGGCAGCAGTCA	NM_006379	NP_006370	80387714	Q99985	SEM3C_HUMAN	0			15	2138	-	C	C			Missense_Mutation	526						
SEMA3C	10512	broad.mit.edu	GRCh37	7	80433493	80433493	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0646-01	TCGA-06-0646-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265361.3:c.730T>C	p.Phe244Leu	p.F244L	ENST00000265361	NM_006379.3	244	Ttc/Ctc	0			1			G	F/L	uc003uhj.2	protein_coding	YES	CCDS5596.1			730/2256									ovary(1)	1	c.(730-732)TTC>CTC			PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF25,hmmpanther:PTHR11036,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912	semaphorin 3C precursor				ENSP00000265361		18-Aug									COSM2151307,COSM2151308	18-Aug	.		ENST00000265361	Transcript	1		immune response|response to drug	membrane	receptor activity	ENSG00000075223	g.chr7:80433493A>G	10725			MODERATE		1.675	low	getma.org/?cm=msa&ty=f&p=SEM3C_HUMAN&rb=54&re=495&var=F244L	getma.org/pdb.php?prot=SEM3C_HUMAN&from=54&to=495&var=F244L	getma.org/?cm=var&var=hg19,7,80433493,A,G&fts=all	F244L	--	--	1																																		SEMA3C_uc011kgw.1_Missense_Mutation_p.F262L|SEMA3C_uc011kgx.1_Missense_Mutation_p.F96L	1,1	1		benign(0.015)	p.F244L	NM_006379	NP_006370		tolerated(0.06)	1,1	SEM3C_HUMAN	SEMA3C	HGNC	Q99985	SEM3C_HUMAN			Q75MX0_HUMAN,Q75L25_HUMAN		8	1292	-			UPI000011C137	244			Sema.		SNV	SEMA3C,missense_variant,p.Phe244Leu,ENST00000265361,NM_006379.3;SEMA3C,missense_variant,p.Phe244Leu,ENST00000419255,;SEMA3C,missense_variant,p.Phe262Leu,ENST00000544525,;SEMA3C,missense_variant,p.Phe96Leu,ENST00000536800,;SEMA3C,3_prime_UTR_variant,,ENST00000458729,;	uc003uhj.2	c.730T>C	1292/5174	4	4			c.730T>C						7	SNP	c.(730-732)TTC>CTC	24	24			ovary(1)	1	Broad	semaphorin 3C precursor			80433493		0.368	ENSG00000075223	13806	g.chr7:80433493A>G	immune response|response to drug	membrane	receptor activity							85.970611	KEEP	19	12	-1	54	38	19	12	-1	92.639398	54	38	0.243243	1	0	0	0	0	1	0	0	0	--	--		0	G			SEMA3C_uc011kgw.1_Missense_Mutation_p.F262L|SEMA3C_uc011kgx.1_Missense_Mutation_p.F96L	60	GBM-06-0646-TP	p.F244L	A	TTTTCTTTGAAGAAGAAGTAC	NM_006379	NP_006370	80433493	Q99985	SEM3C_HUMAN	0			8	1292	-	G	G			Missense_Mutation	244			Sema.			
SEMA3C	10512	broad.mit.edu	GRCh37	7	80390932	80390932	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265361.3:c.1485G>T	p.Lys495Asn	p.K495N	ENST00000265361	NM_006379.3	495	aaG/aaT	0			1			A	K/N	uc003uhj.2	protein_coding	YES	CCDS5596.1			1485/2256									ovary(1)	1	c.(1483-1485)AAG>AAT			PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF25,hmmpanther:PTHR11036,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912	semaphorin 3C precursor				ENSP00000265361		14/18									COSM3412330,COSM3412331	14/18	.		ENST00000265361	Transcript	1		immune response|response to drug	membrane	receptor activity	ENSG00000075223	g.chr7:80390932C>A	10725			MODERATE		1.635	low	getma.org/?cm=msa&ty=f&p=SEM3C_HUMAN&rb=54&re=495&var=K495N	getma.org/pdb.php?prot=SEM3C_HUMAN&from=54&to=495&var=K495N	getma.org/?cm=var&var=hg19,7,80390932,C,A&fts=all	K495N	--	--	1																																		SEMA3C_uc011kgw.1_Missense_Mutation_p.K513N	1,1	1		possibly_damaging(0.907)	p.K495N	NM_006379	NP_006370		deleterious(0)	1,1	SEM3C_HUMAN	SEMA3C	HGNC	Q99985	SEM3C_HUMAN			Q75MX0_HUMAN,Q75L25_HUMAN		14	2047	-			UPI000011C137	495			Sema.		SNV	SEMA3C,missense_variant,p.Lys495Asn,ENST00000265361,NM_006379.3;SEMA3C,missense_variant,p.Lys495Asn,ENST00000419255,;SEMA3C,missense_variant,p.Lys513Asn,ENST00000544525,;	uc003uhj.2	c.1485G>T	2047/5174	2	2			c.1485G>T						7	SNP	c.(1483-1485)AAG>AAT	33	33			ovary(1)	1	Broad	semaphorin 3C precursor			80390932		0.229	ENSG00000075223	13806	g.chr7:80390932C>A	immune response|response to drug	membrane	receptor activity							17.0829	KEEP	10	3	0.230769231	28	16	10	3	0.230769231	20.711427	28	16	0.22	1	0	0	0	0	1	0	0	0	--	--		0	A			SEMA3C_uc011kgw.1_Missense_Mutation_p.K513N	62	GBM-06-0649-TP	p.K495N	C	TAGTTTTTACCTTTTTAGATG	NM_006379	NP_006370	80390932	Q99985	SEM3C_HUMAN	0			14	2047	-	A	A			Missense_Mutation	495			Sema.			
SEMA3C	10512	broad.mit.edu	GRCh37	7	80387708	80387708	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01	TCGA-06-2557-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265361.3:c.1582C>T	p.Arg528Trp	p.R528W	ENST00000265361	NM_006379.3	528	Cgg/Tgg	0			1			A	R/W	uc003uhj.2	protein_coding	YES	CCDS5596.1			1582/2256									ovary(1)	1	c.(1582-1584)CGG>TGG			hmmpanther:PTHR11036:SF25,hmmpanther:PTHR11036,Gene3D:3.30.1680.10,SMART_domains:SM00423,Superfamily_domains:SSF103575	semaphorin 3C precursor				ENSP00000265361		15/18	8.24E-06					1.50E-05			rs764684749,COSM1225133,COSM2152558	15/18	.		ENST00000265361	Transcript	1		immune response|response to drug	membrane	receptor activity	ENSG00000075223	g.chr7:80387708G>A	10725			MODERATE		3.79	high	getma.org/?cm=msa&ty=f&p=SEM3C_HUMAN&rb=496&re=578&var=R528W	getma.org/pdb.php?prot=SEM3C_HUMAN&from=496&to=578&var=R528W	getma.org/?cm=var&var=hg19,7,80387708,G,A&fts=all	R528W	--	--	1																																		SEMA3C_uc011kgw.1_Missense_Mutation_p.R546W	0,1,1	1		probably_damaging(0.996)	p.R528W	NM_006379	NP_006370		deleterious(0.02)	0,1,1	SEM3C_HUMAN	SEMA3C	HGNC	Q99985	SEM3C_HUMAN			Q75MX0_HUMAN,Q75L25_HUMAN		15	2144	-			UPI000011C137	528					SNV	SEMA3C,missense_variant,p.Arg528Trp,ENST00000265361,NM_006379.3;SEMA3C,missense_variant,p.Arg528Trp,ENST00000419255,;SEMA3C,missense_variant,p.Arg546Trp,ENST00000544525,;	uc003uhj.2	c.1582C>T	2144/5174	2	2			c.1582C>T						7	SNP	c.(1582-1584)CGG>TGG	29	29			ovary(1)	1	Broad	semaphorin 3C precursor			80387708		0.527	ENSG00000075223	13806	g.chr7:80387708G>A	immune response|response to drug	membrane	receptor activity							632.397247	KEEP	115	108	-1	112	98	115	108	-1	632.750715	112	98	0.532637	1	0	0	0	0	1	0	0	0	--	--		0	A			SEMA3C_uc011kgw.1_Missense_Mutation_p.R546W	81	GBM-06-2557-TP	p.R528W	G	TAAGGGTCCCGCGCCAGGCAG	NM_006379	NP_006370	80387708	Q99985	SEM3C_HUMAN	0			15	2144	-	A	A			Missense_Mutation	528						
SEMA3C	10512	broad.mit.edu	GRCh37	7	80378254	80378254	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-2558-01	TCGA-06-2558-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265361.3:c.1802T>C	p.Ile601Thr	p.I601T	ENST00000265361	NM_006379.3	601	aTc/aCc	0			1			G	I/T	uc003uhj.2	protein_coding	YES	CCDS5596.1			1802/2256									ovary(1)	1	c.(1801-1803)ATC>ACC			PROSITE_profiles:PS50835,hmmpanther:PTHR11036:SF25,hmmpanther:PTHR11036,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726	semaphorin 3C precursor				ENSP00000265361		17/18									COSM2152604,COSM2152605	17/18	.		ENST00000265361	Transcript	1		immune response|response to drug	membrane	receptor activity	ENSG00000075223	g.chr7:80378254A>G	10725			MODERATE		1.925	medium	getma.org/?cm=msa&ty=f&p=SEM3C_HUMAN&rb=579&re=661&var=I601T	getma.org/pdb.php?prot=SEM3C_HUMAN&from=579&to=661&var=I601T	getma.org/?cm=var&var=hg19,7,80378254,A,G&fts=all	I601T	--	--	1																																		SEMA3C_uc011kgw.1_Missense_Mutation_p.I619T	1,1	1		benign(0.304)	p.I601T	NM_006379	NP_006370		deleterious(0.04)	1,1	SEM3C_HUMAN	SEMA3C	HGNC	Q99985	SEM3C_HUMAN			Q75MX0_HUMAN,Q75L25_HUMAN		17	2364	-			UPI000011C137	601			Ig-like C2-type.		SNV	SEMA3C,missense_variant,p.Ile601Thr,ENST00000265361,NM_006379.3;SEMA3C,missense_variant,p.Ile601Thr,ENST00000419255,;SEMA3C,missense_variant,p.Ile619Thr,ENST00000544525,;	uc003uhj.2	c.1802T>C	2364/5174	3	3			c.1802T>C						7	SNP	c.(1801-1803)ATC>ACC	1	1			ovary(1)	1	Broad	semaphorin 3C precursor			80378254		0.453	ENSG00000075223	13806	g.chr7:80378254A>G	immune response|response to drug	membrane	receptor activity							149.289332	KEEP	36	57	-1	96	106	36	57	-1	155.919108	96	106	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	G			SEMA3C_uc011kgw.1_Missense_Mutation_p.I619T	82	GBM-06-2558-TP	p.I601T	A	CAGCCACTTGATAGATGCCTG	NM_006379	NP_006370	80378254	Q99985	SEM3C_HUMAN	0			17	2364	-	G	G			Missense_Mutation	601			Ig-like C2-type.			
SEMA3C	0	broad.mit.edu	GRCh37	7	80456743	80456743	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	rs13310887		TCGA-27-1837-01	TCGA-27-1837-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265361.3:c.325A>C	p.Thr109Pro	p.T109P	ENST00000265361	NM_006379.3	109	Aca/Cca	0			1			G	T/P	uc003uhj.2	protein_coding	YES	CCDS5596.1			325/2256									ovary(1)	1	c.(325-327)ACA>CCA			PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF25,hmmpanther:PTHR11036,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912	semaphorin 3C precursor				ENSP00000265361		18-Apr									rs13310887,COSM3748375,COSM3748376	18-Apr	.		ENST00000265361	Transcript	1		immune response|response to drug	membrane	receptor activity	ENSG00000075223	g.chr7:80456743T>G	10725			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=SEM3C_HUMAN&rb=54&re=495&var=T109P	getma.org/pdb.php?prot=SEM3C_HUMAN&from=54&to=495&var=T109P	getma.org/?cm=var&var=hg19,7,80456743,T,G&fts=all	T109P	--	--	1																																		SEMA3C_uc011kgw.1_Missense_Mutation_p.T127P|SEMA3C_uc011kgx.1_Intron	0,1,1	1		possibly_damaging(0.722)	p.T109P	NM_006379	NP_006370		tolerated(0.16)	0,1,1	SEM3C_HUMAN	SEMA3C	HGNC	Q99985	SEM3C_HUMAN			Q75MX0_HUMAN,Q75L25_HUMAN		4	887	-			UPI000011C137	109			Sema.		SNV	SEMA3C,missense_variant,p.Thr109Pro,ENST00000265361,NM_006379.3;SEMA3C,missense_variant,p.Thr127Pro,ENST00000544525,;SEMA3C,missense_variant,p.Thr109Pro,ENST00000419255,;SEMA3C,intron_variant,,ENST00000536800,;SEMA3C,intron_variant,,ENST00000458729,;SEMA3C,downstream_gene_variant,,ENST00000427167,;SEMA3C,downstream_gene_variant,,ENST00000411788,;	uc003uhj.2	c.325A>C	887/5174	3	3			c.325A>C						7	SNP	c.(325-327)ACA>CCA	14	14			ovary(1)	1	Broad	semaphorin 3C precursor			80456743		0.338	ENSG00000075223	13806	g.chr7:80456743T>G	immune response|response to drug	membrane	receptor activity							34.008464	KEEP	8	4	-1	25	16	8	4	-1	37.070322	25	16	0.24	1	0	0	0	0	1	0	0	0	--	--		0	G			SEMA3C_uc011kgw.1_Missense_Mutation_p.T127P|SEMA3C_uc011kgx.1_Intron	196	GBM-27-1837-TP	p.T109P	T	ACACTTACTGTGGGATCTTTG	NM_006379	NP_006370	80456743	Q99985	SEM3C_HUMAN	0			4	887	-	G	G			Missense_Mutation	109			Sema.			
SEMA3C	0	broad.mit.edu	GRCh37	7	80434993	80434993	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01	TCGA-28-1753-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265361.3:c.620C>T	p.Ala207Val	p.A207V	ENST00000265361	NM_006379.3	207	gCg/gTg	0			1			A	A/V	uc003uhj.2	protein_coding	YES	CCDS5596.1			620/2256									ovary(1)	1	c.(619-621)GCG>GTG			PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF25,hmmpanther:PTHR11036,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912	semaphorin 3C precursor				ENSP00000265361		18-Jul	0.000181	0.000194		0.000116		0.000286			rs769829474,COSM453449,COSM3412336	18-Jul	.		ENST00000265361	Transcript	1		immune response|response to drug	membrane	receptor activity	ENSG00000075223	g.chr7:80434993G>A	10725			MODERATE		0.985	low	getma.org/?cm=msa&ty=f&p=SEM3C_HUMAN&rb=54&re=495&var=A207V	getma.org/pdb.php?prot=SEM3C_HUMAN&from=54&to=495&var=A207V	getma.org/?cm=var&var=hg19,7,80434993,G,A&fts=all	A207V	--	--	1																																		SEMA3C_uc011kgw.1_Missense_Mutation_p.A225V|SEMA3C_uc011kgx.1_Missense_Mutation_p.A59V	0,1,1	1		possibly_damaging(0.524)	p.A207V	NM_006379	NP_006370		tolerated(0.22)	0,1,1	SEM3C_HUMAN	SEMA3C	HGNC	Q99985	SEM3C_HUMAN			Q75MX0_HUMAN,Q75L25_HUMAN		7	1182	-			UPI000011C137	207			Sema.		SNV	SEMA3C,missense_variant,p.Ala207Val,ENST00000265361,NM_006379.3;SEMA3C,missense_variant,p.Ala207Val,ENST00000419255,;SEMA3C,missense_variant,p.Ala225Val,ENST00000544525,;SEMA3C,missense_variant,p.Ala59Val,ENST00000536800,;SEMA3C,3_prime_UTR_variant,,ENST00000458729,;	uc003uhj.2	c.620C>T	1182/5174	2	2			c.620C>T						7	SNP	c.(619-621)GCG>GTG	17	17			ovary(1)	1	Broad	semaphorin 3C precursor			80434993		0.323	ENSG00000075223	13806	g.chr7:80434993G>A	immune response|response to drug	membrane	receptor activity							-23.344395	KEEP	3	3	-1	86	69	3	3	-1	9.712674	86	69	0.035461	1	0	0	0	0	1	0	0	0	--	--		0	A			SEMA3C_uc011kgw.1_Missense_Mutation_p.A225V|SEMA3C_uc011kgx.1_Missense_Mutation_p.A59V	207	GBM-28-1753-TP	p.A207V	G	AGTTCTGACCGCATTCCTCTT	NM_006379	NP_006370	80434993	Q99985	SEM3C_HUMAN	0			7	1182	-	A	A			Missense_Mutation	207			Sema.			
SEMA3C	0	broad.mit.edu	GRCh37	7	80433421	80433421	+	splice_donor_variant	Splice_Site	SNP	C	C	G			TCGA-32-5222-01	TCGA-32-5222-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265361.3:c.801+1G>C		p.X267_splice	ENST00000265361	NM_006379.3			0			1			G		uc003uhj.2	protein_coding	YES	CCDS5596.1			801/2256									ovary(1)	1	c.e8+1				semaphorin 3C precursor				ENSP00000265361											COSM3412334,COSM3412335		.		ENST00000265361	Transcript	1		immune response|response to drug	membrane	receptor activity	ENSG00000075223	g.chr7:80433421C>G	10725			HIGH	17-Aug							--	--	1																																		SEMA3C_uc011kgw.1_Splice_Site_p.P285_splice|SEMA3C_uc011kgx.1_Splice_Site_p.P119_splice	1,1	1			p.P267_splice	NM_006379	NP_006370			1,1	SEM3C_HUMAN	SEMA3C	HGNC	Q99985	SEM3C_HUMAN			Q75MX0_HUMAN,Q75L25_HUMAN		8	1363	-			UPI000011C137						SNV	SEMA3C,splice_donor_variant,,ENST00000265361,NM_006379.3;SEMA3C,splice_donor_variant,,ENST00000544525,;SEMA3C,splice_donor_variant,,ENST00000419255,;SEMA3C,splice_donor_variant,,ENST00000536800,;SEMA3C,splice_donor_variant,,ENST00000458729,;	uc003uhj.2	c.801_splice	-/5174	5	3			c.801_splice						7	SNP	c.e8+1	3	3			ovary(1)	1	Broad	semaphorin 3C precursor			80433421		0.323	ENSG00000075223	13806	g.chr7:80433421C>G	immune response|response to drug	membrane	receptor activity							-61.005367	KEEP	2	7	-1	162	194	2	7	-1	19.363905	162	194	0.024922	1	0	0	0	0	0	0	0	1	--	--		0	G			SEMA3C_uc011kgw.1_Splice_Site_p.P285_splice|SEMA3C_uc011kgx.1_Splice_Site_p.P119_splice	249	GBM-32-5222-TP	p.P267_splice	C	TTAATACTTACAGGACATATT	NM_006379	NP_006370	80433421	Q99985	SEM3C_HUMAN	0			8	1363	-	G	G			Splice_Site							
SEMA3C	10512		GRCh37	7	80374224	80374224	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000265361.3:c.2242T>C	p.Leu748=	p.L748=	ENST00000265361	NM_006379.3	748	Ttg/Ctg	0																																																																																																																																																																																																																																												
SEMA3D	0	broad.mit.edu	GRCh37	7	84671590	84671590	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-28-5219-01	TCGA-28-5219-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284136.6:c.873A>G	p.Gly291=	p.G291=	ENST00000284136	NM_152754.2	291	ggA/ggG	0			1			C	G	uc003uic.2	protein_coding	YES	CCDS34676.1			873/2334									ovary(3)|large_intestine(2)	5	c.(871-873)GGA>GGG			Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF36,SMART_domains:SM00630,Superfamily_domains:SSF101912	semaphorin 3D precursor				ENSP00000284136		17-Aug									COSM3748377	17-Aug	.		ENST00000284136	Transcript	1		cell differentiation|nervous system development	extracellular region|membrane	receptor activity	ENSG00000153993	g.chr7:84671590T>C	10726			LOW								--	--	1																																		SEMA3D_uc010led.2_Silent_p.G291G|SEMA3D_uc003uib.2_5'Flank	1	1			p.G291G	NM_152754	NP_689967			1	SEM3D_HUMAN	SEMA3D	HGNC	O95025	SEM3D_HUMAN					8	913	-			UPI0000135A66	291			Sema.		SNV	SEMA3D,synonymous_variant,p.=,ENST00000284136,NM_152754.2;SEMA3D,upstream_gene_variant,,ENST00000484038,;SEMA3D,non_coding_transcript_exon_variant,,ENST00000463315,;	uc003uic.2	c.873A>G	917/6265	3	3			c.873A>G						7	SNP	c.(871-873)GGA>GGG	53	53			ovary(3)|large_intestine(2)	5	Broad	semaphorin 3D precursor			84671590		0.378	ENSG00000153993	13807	g.chr7:84671590T>C	cell differentiation|nervous system development	extracellular region|membrane	receptor activity	Ovarian(63;442 1191 17318 29975 31528)			Ovarian(63;442 1191 17318 29975 31528)			389.703886	KEEP	82	94	-1	279	400	82	94	-1	444.732018	279	400	0.202096	1	0	0	0	0	0	0	1	0	--	--		0	C			SEMA3D_uc010led.2_Silent_p.G291G|SEMA3D_uc003uib.2_5'Flank	225	GBM-28-5219-TP	p.G291G	T	TGCGTTGTCCTCCTACATCAT	NM_152754	NP_689967	84671590	O95025	SEM3D_HUMAN	0			8	913	-	C	C			Silent	291			Sema.			
SEMA3D	0	broad.mit.edu	GRCh37	7	84727157	84727157	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-41-3393-01	TCGA-41-3393-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284136.6:c.276A>G	p.Leu92=	p.L92=	ENST00000284136	NM_152754.2	92	ctA/ctG	0			1			C	L	uc003uic.2	protein_coding	YES	CCDS34676.1			276/2334									ovary(3)|large_intestine(2)	5	c.(274-276)CTA>CTG			Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF36,SMART_domains:SM00630,Superfamily_domains:SSF101912	semaphorin 3D precursor				ENSP00000284136		17-Feb									rs561234345,COSM3412418	17-Feb	.		ENST00000284136	Transcript	1		cell differentiation|nervous system development	extracellular region|membrane	receptor activity	ENSG00000153993	g.chr7:84727157T>C	10726			LOW								--	--	1																																		SEMA3D_uc010led.2_Silent_p.L92L|SEMA3D_uc010lee.1_Silent_p.L92L	0,1	1			p.L92L	NM_152754	NP_689967			0,1	SEM3D_HUMAN	SEMA3D	HGNC	O95025	SEM3D_HUMAN					2	316	-			UPI0000135A66	92			Sema.		SNV	SEMA3D,synonymous_variant,p.=,ENST00000284136,NM_152754.2;SEMA3D,synonymous_variant,p.=,ENST00000444867,;	uc003uic.2	c.276A>G	320/6265	3	3			c.276A>G						7	SNP	c.(274-276)CTA>CTG	9	9			ovary(3)|large_intestine(2)	5	Broad	semaphorin 3D precursor			84727157		0.363	ENSG00000153993	13807	g.chr7:84727157T>C	cell differentiation|nervous system development	extracellular region|membrane	receptor activity	Ovarian(63;442 1191 17318 29975 31528)			Ovarian(63;442 1191 17318 29975 31528)			386.409271	KEEP	82	62	-1	246	245	82	62	-1	422.28994	246	245	0.235294	1	0	0	0	0	0	0	1	0	--	--		0	C			SEMA3D_uc010led.2_Silent_p.L92L|SEMA3D_uc010lee.1_Silent_p.L92L	255	GBM-41-3393-TP	p.L92L	T	CCAGACTGAGTAGAAAGATGT	NM_152754	NP_689967	84727157	O95025	SEM3D_HUMAN	0			2	316	-	C	C			Silent	92			Sema.			
SEMA3E	9723	broad.mit.edu	GRCh37	7	82997221	82997221	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0878-01	TCGA-06-0878-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307792.3:c.2009T>G	p.Leu670Trp	p.L670W	ENST00000307792	NM_012431.2	670	tTg/tGg	0			1			C	L/W	uc003uhy.1	protein_coding	YES	CCDS34674.1			2009/2328									ovary(3)	3	c.(2008-2010)TTG>TGG			Gene3D:2.60.40.10,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF22,Superfamily_domains:SSF48726	semaphorin 3E precursor				ENSP00000303212		17/17									COSM2152226	17/17	.		ENST00000307792	Transcript	1		axon guidance	extracellular space|membrane	receptor activity	ENSG00000170381	g.chr7:82997221A>C	10727			MODERATE		2.63	medium	getma.org/?cm=msa&ty=f&p=SEM3E_HUMAN&rb=657&re=775&var=L670W	NA	getma.org/?cm=var&var=hg19,7,82997221,A,C&fts=all	L670W	--	--	1																																			1	1		probably_damaging(1)	p.L670W	NM_012431	NP_036563		deleterious(0)	1	SEM3E_HUMAN	SEMA3E	HGNC	O15041	SEM3E_HUMAN			F8WCZ5_HUMAN,C9JVH5_HUMAN		17	2475	-		Medulloblastoma(109;0.109)	UPI0000135A68	670					SNV	SEMA3E,missense_variant,p.Leu670Trp,ENST00000307792,NM_012431.2;SEMA3E,missense_variant,p.Leu610Trp,ENST00000427262,NM_001178129.1;	uc003uhy.1	c.2009T>G	2477/6476	3	3			c.2009T>G						7	SNP	c.(2008-2010)TTG>TGG	13	13			ovary(3)	3	Broad	semaphorin 3E precursor			82997221		0.468	ENSG00000170381	13808	g.chr7:82997221A>C	axon guidance	extracellular space|membrane	receptor activity							197.994136	KEEP	30	41	-1	100	114	30	41	-1	213.572964	100	114	0.248148	1	0	0	0	0	1	0	0	0	--	--		0	C				74	GBM-06-0878-TP	p.L670W	A	CACTACCTCCAAGGTGATTTT	NM_012431	NP_036563	82997221	O15041	SEM3E_HUMAN	0			17	2475	-	C	C		Medulloblastoma(109;0.109)	Missense_Mutation	670						
SEMA3E	9723	broad.mit.edu	GRCh37	7	82997239	82997239	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0881-01	TCGA-06-0881-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307792.3:c.1991C>T	p.Thr664Met	p.T664M	ENST00000307792	NM_012431.2	664	aCg/aTg	0	A:0.0002		1			A	T/M	uc003uhy.1	protein_coding	YES	CCDS34674.1			1991/2328									ovary(3)	3	c.(1990-1992)ACG>ATG			Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF22,Superfamily_domains:SSF48726	semaphorin 3E precursor			A:0	ENSP00000303212		17/17	1.65E-05	9.62E-05				1.51E-05			rs375536813,COSM1292568	17/17	.		ENST00000307792	Transcript	1		axon guidance	extracellular space|membrane	receptor activity	ENSG00000170381	g.chr7:82997239G>A	10727			MODERATE		2.575	medium	getma.org/?cm=msa&ty=f&p=SEM3E_HUMAN&rb=581&re=669&var=T664M	NA	getma.org/?cm=var&var=hg19,7,82997239,G,A&fts=all	T664M	--	--	1																																			0,1	1		possibly_damaging(0.573)	p.T664M	NM_012431	NP_036563		deleterious(0.01)	0,1	SEM3E_HUMAN	SEMA3E	HGNC	O15041	SEM3E_HUMAN			F8WCZ5_HUMAN,C9JVH5_HUMAN		17	2457	-		Medulloblastoma(109;0.109)	UPI0000135A68	664			Ig-like C2-type.		SNV	SEMA3E,missense_variant,p.Thr664Met,ENST00000307792,NM_012431.2;SEMA3E,missense_variant,p.Thr604Met,ENST00000427262,NM_001178129.1;	uc003uhy.1	c.1991C>T	2459/6476	2	2			c.1991C>T						7	SNP	c.(1990-1992)ACG>ATG	48	48			ovary(3)	3	Broad	semaphorin 3E precursor			82997239		0.458	ENSG00000170381	13808	g.chr7:82997239G>A	axon guidance	extracellular space|membrane	receptor activity							-10.187631	KEEP	8	5	-1	98	91	8	5	-1	28.312444	98	91	0.06599	1	0	0	0	0	1	0	0	0	--	--		0	A				76	GBM-06-0881-TP	p.T664M	G	TTTACGGACCGTATGGACAAA	NM_012431	NP_036563	82997239	O15041	SEM3E_HUMAN	0			17	2457	-	A	A		Medulloblastoma(109;0.109)	Missense_Mutation	664			Ig-like C2-type.			
SEMA3E	9723	broad.mit.edu	GRCh37	7	83034830	83034830	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-06-2565-01	TCGA-06-2565-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307792.3:c.934del	p.Val312PhefsTer13	p.V312Ffs*13	ENST00000307792	NM_012431.2	312	Gtt/tt	0			1			-	V/X	uc003uhy.1	protein_coding	YES	CCDS34674.1			934/2328									ovary(3)	3	c.(934-936)GTTfs			Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF22,SMART_domains:SM00630,Superfamily_domains:SSF101912	semaphorin 3E precursor				ENSP00000303212		17-Sep									COSM2153005	17-Sep	.		ENST00000307792	Transcript	1		axon guidance	extracellular space|membrane	receptor activity	ENSG00000170381	g.chr7:83034830delC	10727			HIGH								--	--	1																																			1	1			p.V312fs	NM_012431	NP_036563			1	SEM3E_HUMAN	SEMA3E	HGNC	O15041	SEM3E_HUMAN			F8WCZ5_HUMAN,C9JVH5_HUMAN		9	1400	-		Medulloblastoma(109;0.109)	UPI0000135A68	312			Sema.		deletion	SEMA3E,frameshift_variant,p.Val312PhefsTer13,ENST00000307792,NM_012431.2;SEMA3E,frameshift_variant,p.Val252PhefsTer13,ENST00000427262,NM_001178129.1;SEMA3E,downstream_gene_variant,,ENST00000442159,;	uc003uhy.1	c.934delG	1402/6476	5	5			c.934delG						7	DEL	c.(934-936)GTTfs	13	13			ovary(3)	3	Broad	semaphorin 3E precursor			83034830		0.313	ENSG00000170381	13808	g.chr7:83034830delC	axon guidance	extracellular space|membrane	receptor activity																				0.41	1	1	0	1	0	0	0	0	0	--	--		0	-				88	GBM-06-2565-TP	p.V312fs	C	AGCAAAAAAACGTCCTCTGAA	NM_012431	NP_036563	83034830	O15041	SEM3E_HUMAN	0			9	1400	-	-	-		Medulloblastoma(109;0.109)	Frame_Shift_Del	312			Sema.			
SEMA3E	0	broad.mit.edu	GRCh37	7	83095907	83095907	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-27-2527-01	TCGA-27-2527-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307792.3:c.347C>A	p.Ala116Glu	p.A116E	ENST00000307792	NM_012431.2	116	gCa/gAa	0			1			T	A/E	uc003uhy.1	protein_coding	YES	CCDS34674.1			347/2328									ovary(3)	3	c.(346-348)GCA>GAA			Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF22,SMART_domains:SM00630,Superfamily_domains:SSF101912	semaphorin 3E precursor				ENSP00000303212		17-Apr									COSM3412417	17-Apr	.		ENST00000307792	Transcript	1		axon guidance	extracellular space|membrane	receptor activity	ENSG00000170381	g.chr7:83095907G>T	10727			MODERATE		2.765	medium	getma.org/?cm=msa&ty=f&p=SEM3E_HUMAN&rb=58&re=500&var=A116E	getma.org/pdb.php?prot=SEM3E_HUMAN&from=58&to=500&var=A116E	getma.org/?cm=var&var=hg19,7,83095907,G,T&fts=all	A116E	--	--	1																																			1	1		probably_damaging(1)	p.A116E	NM_012431	NP_036563		deleterious(0)	1	SEM3E_HUMAN	SEMA3E	HGNC	O15041	SEM3E_HUMAN			F8WCZ5_HUMAN,C9JVH5_HUMAN		4	813	-		Medulloblastoma(109;0.109)	UPI0000135A68	116			Sema.		SNV	SEMA3E,missense_variant,p.Ala116Glu,ENST00000307792,NM_012431.2;SEMA3E,missense_variant,p.Ala56Glu,ENST00000427262,NM_001178129.1;SEMA3E,missense_variant,p.Ala56Glu,ENST00000442159,;	uc003uhy.1	c.347C>A	815/6476	1	1			c.347C>A						7	SNP	c.(346-348)GCA>GAA	13	13			ovary(3)	3	Broad	semaphorin 3E precursor			83095907		0.388	ENSG00000170381	13808	g.chr7:83095907G>T	axon guidance	extracellular space|membrane	receptor activity							-0.687871	KEEP	5	6	0.454545455	54	51	5	6	0.454545455	18.108562	54	51	0.07767	1	0	0	0	0	1	0	0	0	--	--		0	T				204	GBM-27-2527-TP	p.A116E	G	AACATAATTTGCACATTCACC	NM_012431	NP_036563	83095907	O15041	SEM3E_HUMAN	0			4	813	-	T	T		Medulloblastoma(109;0.109)	Missense_Mutation	116			Sema.			
SEMA3E	0	broad.mit.edu	GRCh37	7	83032082	83032082	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5209-01	TCGA-28-5209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307792.3:c.1009C>T	p.Arg337Ter	p.R337*	ENST00000307792	NM_012431.2	337	Cga/Tga	0			1			A	R/*	uc003uhy.1	protein_coding	YES	CCDS34674.1			1009/2328									ovary(3)	3	c.(1009-1011)CGA>TGA			Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF22,SMART_domains:SM00630,Superfamily_domains:SSF101912	semaphorin 3E precursor				ENSP00000303212		17-Oct									COSM234297	17-Oct	.		ENST00000307792	Transcript	1		axon guidance	extracellular space|membrane	receptor activity	ENSG00000170381	g.chr7:83032082G>A	10727			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,83032082,G,A&fts=all	R337*	--	--	1																																			1	1			p.R337*	NM_012431	NP_036563			1	SEM3E_HUMAN	SEMA3E	HGNC	O15041	SEM3E_HUMAN			F8WCZ5_HUMAN,C9JVH5_HUMAN		10	1475	-		Medulloblastoma(109;0.109)	UPI0000135A68	337			Sema.		SNV	SEMA3E,stop_gained,p.Arg337Ter,ENST00000307792,NM_012431.2;SEMA3E,stop_gained,p.Arg277Ter,ENST00000427262,NM_001178129.1;	uc003uhy.1	c.1009C>T	1477/6476	5	2			c.1009C>T						7	SNP	c.(1009-1011)CGA>TGA	36	36			ovary(3)	3	Broad	semaphorin 3E precursor			83032082		0.403	ENSG00000170381	13808	g.chr7:83032082G>A	axon guidance	extracellular space|membrane	receptor activity							96.109816	KEEP	22	17	-1	61	47	22	17	-1	102.483747	61	47	0.272059	1	0	0	0	0	0	1	0	0	--	--		0	A				218	GBM-28-5209-TP	p.R337*	G	GCATGCCCTCGAAAAATATTA	NM_012431	NP_036563	83032082	O15041	SEM3E_HUMAN	0			10	1475	-	A	A		Medulloblastoma(109;0.109)	Nonsense_Mutation	337			Sema.			
SEMA3E	9723		GRCh37	7	83016344	83016344	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000307792.3:c.1690C>T	p.Arg564Ter	p.R564*	ENST00000307792	NM_012431.2	564	Cga/Tga	0																																																																																																																																																																																																																																												
SEMA3E	9723		GRCh37	7	83047753	83047753	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000307792.3:c.503G>A	p.Gly168Asp	p.G168D	ENST00000307792	NM_012431.2	168	gGc/gAc	0																																																																																																																																																																																																																																												
SEMA3E	9723		GRCh37	7	82997104	82997104	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000307792.3:c.2126G>T	p.Trp709Leu	p.W709L	ENST00000307792	NM_012431.2	709	tGg/tTg	0																																																																																																																																																																																																																																												
SEMA3F	6405	broad.mit.edu	GRCh37	3	50211752	50211752	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0210-01	TCGA-06-0210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000002829.3:c.425G>T	p.Cys142Phe	p.C142F	ENST00000002829	NM_004186.3	142	tGc/tTc	0			1			T	C/F	uc003cyj.2	protein_coding	YES	CCDS2811.1			425/2358									lung(1)|skin(1)	2	c.(424-426)TGC>TTC			PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF27,hmmpanther:PTHR11036,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	semaphorin 3F precursor				ENSP00000002829		19-May									COSM3408762	19-May	.		ENST00000002829	Transcript			axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	ENSG00000001617	g.chr3:50211752G>T	10728			MODERATE		3.985	high	getma.org/?cm=msa&ty=f&p=SEM3F_HUMAN&rb=57&re=529&var=C142F	getma.org/pdb.php?prot=SEM3F_HUMAN&from=57&to=529&var=C142F	getma.org/?cm=var&var=hg19,3,50211752,G,T&fts=all	C142F	--	--	1																																		SEMA3F_uc003cyk.2_Missense_Mutation_p.C142F	1	1		probably_damaging(1)	p.C142F	NM_004186	NP_004177		deleterious(0)	1	SEM3F_HUMAN	SEMA3F	HGNC	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)			5	623	+			UPI0000135A69	142			Sema.		SNV	SEMA3F,missense_variant,p.Cys142Phe,ENST00000002829,NM_004186.3;SEMA3F,missense_variant,p.Cys142Phe,ENST00000434342,;SEMA3F,missense_variant,p.Cys74Phe,ENST00000413852,;SEMA3F,missense_variant,p.Cys142Phe,ENST00000450338,;SEMA3F,missense_variant,p.Cys142Phe,ENST00000414301,;SEMA3F,missense_variant,p.Cys106Phe,ENST00000420831,;SEMA3F,downstream_gene_variant,,ENST00000426511,;MIR566,downstream_gene_variant,,ENST00000385187,;	uc003cyj.2	c.425G>T	909/3802	1	1			c.425G>T						3	SNP	c.(424-426)TGC>TTC	12	12			lung(1)|skin(1)	2	Broad	semaphorin 3F precursor			50211752		0.662	ENSG00000001617	13809	g.chr3:50211752G>T	axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity							82.651187	KEEP	26	30	0.464285714	108	132	26	30	0.464285714	108.202554	108	132	0.176923	1	0	0	0	0	1	0	0	0	--	--		0	T			SEMA3F_uc003cyk.2_Missense_Mutation_p.C142F	47	GBM-06-0210-TP	p.C142F	G	AACCCCATGTGCACCTATGTG	NM_004186	NP_004177	50211752	Q13275	SEM3F_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	5	623	+	T	T			Missense_Mutation	142			Sema.			
SEMA3G	0	broad.mit.edu	GRCh37	3	52475289	52475289	+	synonymous_variant	Silent	SNP	G	G	A	rs138050174		TCGA-19-5951-01	TCGA-19-5951-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000231721.2:c.804C>T	p.Arg268=	p.R268=	ENST00000231721	NM_020163.1	268	cgC/cgT	0	A:0.0002		1			A	R	uc003dea.1	protein_coding	YES	CCDS2856.1			804/2349									ovary(2)	2	c.(802-804)CGC>CGT			PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF20,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912	semaphorin sem2 precursor			A:0	ENSP00000231721		16-Jul									rs138050174,COSM2156643	16-Jul	.		ENST00000231721	Transcript			multicellular organismal development	extracellular region|membrane	receptor activity	ENSG00000010319	g.chr3:52475289G>A	30400			LOW								--	--	1																																			0,1	1			p.R268R	NM_020163	NP_064548			0,1	SEM3G_HUMAN	SEMA3G	HGNC	Q9NS98	SEM3G_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)			7	804	-			UPI000004250D	268			Sema.		SNV	SEMA3G,synonymous_variant,p.=,ENST00000231721,NM_020163.1;SEMA3G,downstream_gene_variant,,ENST00000475739,;SEMA3G,3_prime_UTR_variant,,ENST00000465657,;	uc003dea.1	c.804C>T	804/4899	2	2			c.804C>T						3	SNP	c.(802-804)CGC>CGT	45	45			ovary(2)	2	Broad	semaphorin sem2 precursor			52475289		0.612	ENSG00000010319	13810	g.chr3:52475289G>A	multicellular organismal development	extracellular region|membrane	receptor activity							69.942841	KEEP	14	13	-1	24	14	14	13	-1	70.324432	24	14	0.410714	1	0	0	0	0	0	0	1	0	--	--		0	A				171	GBM-19-5951-TP	p.R268R	G	CCACGCAGACGCGGCCCACGC	NM_020163	NP_064548	52475289	Q9NS98	SEM3G_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)	7	804	-	A	A			Silent	268			Sema.			
SEMA3G	56920		GRCh37	3	52475334	52475334	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000231721.2:c.759G>A	p.Ser253=	p.S253=	ENST00000231721	NM_020163.1	253	tcG/tcA	0																																																																																																																																																																																																																																												
SEMA4A	0	broad.mit.edu	GRCh37	1	156126258	156126258	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-41-2572-01	TCGA-41-2572-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355014.2:c.193G>C	p.Asp65His	p.D65H	ENST00000355014	NM_001193301.1	65	Gac/Cac	0			1			C	D/H	uc001fnl.2	protein_coding		CCDS1132.1			193/2286									ovary(1)|skin(1)	2	c.(193-195)GAC>CAC			PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF15,hmmpanther:PTHR11036,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912	semaphorin B precursor				ENSP00000347117		15-Mar									COSM1295219	15-Mar	.		ENST00000355014	Transcript	1		axon guidance	integral to membrane|plasma membrane	receptor activity	ENSG00000196189	g.chr1:156126258G>C	10729			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=SEM4A_HUMAN&rb=64&re=478&var=D65H	getma.org/pdb.php?prot=SEM4A_HUMAN&from=64&to=478&var=D65H	getma.org/?cm=var&var=hg19,1,156126258,G,C&fts=all	D65H	--	--	1																																		SEMA4A_uc009wrq.2_Missense_Mutation_p.D65H|SEMA4A_uc001fnm.2_Missense_Mutation_p.D65H|SEMA4A_uc001fnn.2_5'UTR|SEMA4A_uc001fno.2_Missense_Mutation_p.D65H	1			probably_damaging(0.996)	p.D65H	NM_022367	NP_071762		deleterious(0.01)	1	SEM4A_HUMAN	SEMA4A	HGNC	Q9H3S1	SEM4A_HUMAN			Q9HA40_HUMAN,Q5TCJ7_HUMAN,Q5TCJ5_HUMAN,Q5TCI6_HUMAN,B4DKS5_HUMAN		3	297	+	Hepatocellular(266;0.158)		UPI000007217A	65			Sema.|Extracellular (Potential).		SNV	SEMA4A,missense_variant,p.Asp65His,ENST00000368285,NM_001193300.1,NM_022367.3;SEMA4A,missense_variant,p.Asp65His,ENST00000368282,;SEMA4A,missense_variant,p.Asp65His,ENST00000355014,NM_001193301.1;SEMA4A,missense_variant,p.Asp65His,ENST00000435124,;SEMA4A,missense_variant,p.Asp65His,ENST00000438830,;SEMA4A,5_prime_UTR_variant,,ENST00000368286,;SEMA4A,5_prime_UTR_variant,,ENST00000368284,NM_001193302.1;SEMA4A,5_prime_UTR_variant,,ENST00000414683,;SEMA4A,non_coding_transcript_exon_variant,,ENST00000487358,;SEMA4A,non_coding_transcript_exon_variant,,ENST00000485575,;SEMA4A,non_coding_transcript_exon_variant,,ENST00000470306,;SEMA4A,upstream_gene_variant,,ENST00000462892,;SEMA4A,upstream_gene_variant,,ENST00000469065,;SEMA4A,upstream_gene_variant,,ENST00000466698,;	uc001fnl.2	c.193G>C	297/3137	3	3			c.193G>C						1	SNP	c.(193-195)GAC>CAC	51	51			ovary(1)|skin(1)	2	Broad	semaphorin B precursor			156126258		0.542	ENSG00000196189	13811	g.chr1:156126258G>C	axon guidance	integral to membrane|plasma membrane	receptor activity							152.403404	KEEP	24	23	-1	34	52	24	23	-1	154.30773	34	52	0.364407	1	0	0	0	0	1	0	0	0	--	--		0	C			SEMA4A_uc009wrq.2_Missense_Mutation_p.D65H|SEMA4A_uc001fnm.2_Missense_Mutation_p.D65H|SEMA4A_uc001fnn.2_5'UTR|SEMA4A_uc001fno.2_Missense_Mutation_p.D65H	251	GBM-41-2572-TP	p.D65H	G	CCAGGATTTTGACACTCTGCT	NM_022367	NP_071762	156126258	Q9H3S1	SEM4A_HUMAN	0			3	297	+	C	C	Hepatocellular(266;0.158)		Missense_Mutation	65			Sema.|Extracellular (Potential).			
SEMA4F	10505	broad.mit.edu	GRCh37	2	74900889	74900889	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0214-01	TCGA-06-0214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357877.2:c.756G>A	p.Thr252=	p.T252=	ENST00000357877	NM_004263.4	252	acG/acA	0			1			A	T	uc002sna.1	protein_coding	YES	CCDS1955.1			756/2313									ovary(2)|pancreas(1)|skin(1)	4	c.(754-756)ACG>ACA			Superfamily_domains:SSF101912,SMART_domains:SM00630,Pfam_domain:PF01403,Gene3D:2.130.10.10,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF72,PROSITE_profiles:PS51004	semaphorin W precursor				ENSP00000350547		14-Jul									COSM3407994	14-Jul	.		ENST00000357877	Transcript			cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	ENSG00000135622	g.chr2:74900889G>A	10734			LOW								--	--	1																																		SEMA4F_uc010ysb.1_3'UTR|SEMA4F_uc010ffq.1_Silent_p.T219T|SEMA4F_uc010ffr.1_Intron|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Intron	1	1			p.T252T	NM_004263	NP_004254			1	SEM4F_HUMAN	SEMA4F	HGNC	O95754	SEM4F_HUMAN					7	867	+			UPI0000001BF5	252			Sema.|Extracellular (Potential).		SNV	SEMA4F,synonymous_variant,p.=,ENST00000357877,NM_004263.4,NM_001271662.1;SEMA4F,intron_variant,,ENST00000339773,NM_001271661.1;SEMA4F,intron_variant,,ENST00000453930,;SEMA4F,downstream_gene_variant,,ENST00000434486,;SEMA4F,upstream_gene_variant,,ENST00000473350,;SEMA4F,3_prime_UTR_variant,,ENST00000446927,;SEMA4F,3_prime_UTR_variant,,ENST00000458114,;SEMA4F,intron_variant,,ENST00000420077,;	uc002sna.1	c.756G>A	905/4312	1	1			c.756G>A						2	SNP	c.(754-756)ACG>ACA	62	62			ovary(2)|pancreas(1)|skin(1)	4	Broad	semaphorin W precursor			74900889		0.567	ENSG00000135622	13815	g.chr2:74900889G>A	cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity							185.338176	KEEP	39	32	-1	99	81	39	32	-1	194.308004	99	81	0.291304	1	0	0	0	0	0	0	1	0	--	--		0	A			SEMA4F_uc010ysb.1_3'UTR|SEMA4F_uc010ffq.1_Silent_p.T219T|SEMA4F_uc010ffr.1_Intron|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Intron	50	GBM-06-0214-TP	p.T252T	G	TCTTCTTTACGGAGACTTCCC	NM_004263	NP_004254	74900889	O95754	SEM4F_HUMAN	0			7	867	+	A	A			Silent	252			Sema.|Extracellular (Potential).			
SEMA4F	0	broad.mit.edu	GRCh37	2	74902997	74902997	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs146294784		TCGA-28-6450-01	TCGA-28-6450-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357877.2:c.1604G>A	p.Arg535Gln	p.R535Q	ENST00000357877	NM_004263.4	535	cGg/cAg	0	A:0		1			A	R/Q	uc002sna.1	protein_coding	YES	CCDS1955.1			1604/2313									ovary(2)|pancreas(1)|skin(1)	4	c.(1603-1605)CGG>CAG			Superfamily_domains:SSF103575,SMART_domains:SM00423,Gene3D:3.30.1680.10,Pfam_domain:PF01437,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF72	semaphorin W precursor			A:0.0003	ENSP00000350547		14-Dec	9.88E-05	9.62E-05		0.000116	0.000151	0.000135			rs146294784,COSM3407995	14-Dec	.		ENST00000357877	Transcript			cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	ENSG00000135622	g.chr2:74902997G>A	10734			MODERATE		0.625	neutral	getma.org/?cm=msa&ty=f&p=SEM4F_HUMAN&rb=512&re=566&var=R535Q	getma.org/pdb.php?prot=SEM4F_HUMAN&from=512&to=566&var=R535Q	getma.org/?cm=var&var=hg19,2,74902997,G,A&fts=all	R535Q	--	--	1																																		SEMA4F_uc010ffq.1_Missense_Mutation_p.R502Q|SEMA4F_uc010ffr.1_Missense_Mutation_p.R147Q|SEMA4F_uc002snb.1_Missense_Mutation_p.R147Q|SEMA4F_uc002snc.1_Missense_Mutation_p.R380Q	0,1	1		benign(0.015)	p.R535Q	NM_004263	NP_004254		tolerated(0.27)	0,1	SEM4F_HUMAN	SEMA4F	HGNC	O95754	SEM4F_HUMAN					12	1715	+			UPI0000001BF5	535			PSI.|Extracellular (Potential).		SNV	SEMA4F,missense_variant,p.Arg535Gln,ENST00000357877,NM_004263.4,NM_001271662.1;SEMA4F,missense_variant,p.Arg380Gln,ENST00000339773,NM_001271661.1;SEMA4F,downstream_gene_variant,,ENST00000453930,;SEMA4F,downstream_gene_variant,,ENST00000434486,;SEMA4F,non_coding_transcript_exon_variant,,ENST00000473350,;SEMA4F,3_prime_UTR_variant,,ENST00000446927,;SEMA4F,3_prime_UTR_variant,,ENST00000420077,;SEMA4F,downstream_gene_variant,,ENST00000458114,;	uc002sna.1	c.1604G>A	1753/4312	2	2			c.1604G>A						2	SNP	c.(1603-1605)CGG>CAG	32	32			ovary(2)|pancreas(1)|skin(1)	4	Broad	semaphorin W precursor			74902997		0.587	ENSG00000135622	13815	g.chr2:74902997G>A	cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity							66.968984	KEEP	16	6	-1	16	15	16	6	-1	67.132274	16	15	0.4375	1	0	0	0	0	1	0	0	0	--	--		0	A			SEMA4F_uc010ffq.1_Missense_Mutation_p.R502Q|SEMA4F_uc010ffr.1_Missense_Mutation_p.R147Q|SEMA4F_uc002snb.1_Missense_Mutation_p.R147Q|SEMA4F_uc002snc.1_Missense_Mutation_p.R380Q	227	GBM-28-6450-TP	p.R535Q	G	TGGAGCTTCCGGCTGGATGAG	NM_004263	NP_004254	74902997	O95754	SEM4F_HUMAN	0			12	1715	+	A	A			Missense_Mutation	535			PSI.|Extracellular (Potential).			
SEMA4F	0	broad.mit.edu	GRCh37	2	74907015	74907016	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-32-2491-01	TCGA-32-2491-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357877.2:c.1994dupG	p.Phe666LeufsTer30	p.F666Lfs*30	ENST00000357877	NM_004263.4	664	-/G	0	G:0.0049		1			G	-/X	uc002sna.1	protein_coding	YES	CCDS1955.1			1992-1993/2313									ovary(2)|pancreas(1)|skin(1)	4	c.(1990-1995)GCTGGCfs			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF72	semaphorin W precursor			G:0.0057	ENSP00000350547		14/14									TMP_ESP_2_74907016_74907015	14/14	.		ENST00000357877	Transcript			cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	ENSG00000135622	g.chr2:74907015_74907016insG	10734	2		HIGH								--	--	1																																		SEMA4F_uc010ffr.1_Frame_Shift_Ins_p.A276fs|SEMA4F_uc002snb.1_Frame_Shift_Ins_p.A276fs|SEMA4F_uc002snc.1_Frame_Shift_Ins_p.A509fs		1			p.A664fs	NM_004263	NP_004254				SEM4F_HUMAN	SEMA4F	HGNC	O95754	SEM4F_HUMAN					14	2103_2104	+			UPI0000001BF5	664_665			Helical; (Potential).		insertion	SEMA4F,frameshift_variant,p.Phe666LeufsTer30,ENST00000357877,NM_004263.4,NM_001271662.1;SEMA4F,frameshift_variant,p.Phe511LeufsTer30,ENST00000339773,NM_001271661.1;SEMA4F,non_coding_transcript_exon_variant,,ENST00000473350,;SEMA4F,3_prime_UTR_variant,,ENST00000446927,;SEMA4F,3_prime_UTR_variant,,ENST00000420077,;	uc002sna.1	c.1992_1993insG	2141-2142/4312	5	5			c.1992_1993insG						2	INS	c.(1990-1995)GCTGGCfs	28	28			ovary(2)|pancreas(1)|skin(1)	4	Broad	semaphorin W precursor			74907016		0.619	ENSG00000135622	13815	g.chr2:74907015_74907016insG	cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity																				0.07	1	0	0	1	1	0	0	0	0	--	--		0	G			SEMA4F_uc010ffr.1_Frame_Shift_Ins_p.A276fs|SEMA4F_uc002snb.1_Frame_Shift_Ins_p.A276fs|SEMA4F_uc002snc.1_Frame_Shift_Ins_p.A509fs	235	GBM-32-2491-TP	p.A664fs	-	CGGGACTGGCTGGCTTCTTCTT	NM_004263	NP_004254	74907015	O95754	SEM4F_HUMAN	0			14	2103_2104	+	G	G			Frame_Shift_Ins	664_665			Helical; (Potential).			
SEMA4F	10505		GRCh37	2	74900663	74900663	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000357877.2:c.630G>A	p.Glu210=	p.E210=	ENST00000357877	NM_004263.4	210	gaG/gaA	0																																																																																																																																																																																																																																												
SEMA5B	54437		GRCh37	3	122632727	122632727	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000451055.2:c.2272G>A	p.Val758Met	p.V758M	ENST00000451055	NM_001256347.1	758	Gtg/Atg	0																																																																																																																																																																																																																																												
SEMA6B	10501	broad.mit.edu	GRCh37	19	4555533	4555533	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0184-01	TCGA-06-0184-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000586582.1:c.515C>G	p.Ala172Gly	p.A172G	ENST00000586582	NM_032108.3	172	gCc/gGc	0			1			C	A/G	uc010duc.1	protein_coding	YES	CCDS12131.1			515/2667									skin(1)	1	c.(514-516)GCC>GGC			Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF10,SMART_domains:SM00630,Superfamily_domains:SSF101912	semaphorin 6B precursor				ENSP00000467290		17-Jul									COSM3404377	17-Jul	.		ENST00000586582	Transcript			cell differentiation|nervous system development	integral to membrane	receptor activity	ENSG00000167680	g.chr19:4555533G>C	10739			MODERATE		0.9	low	getma.org/?cm=msa&ty=f&p=SEM6B_HUMAN&rb=65&re=485&var=A172G	getma.org/pdb.php?prot=SEM6B_HUMAN&from=65&to=485&var=A172G	getma.org/?cm=var&var=hg19,19,4555533,G,C&fts=all	A172G	--	--	1																																		SEMA6B_uc010dud.2_Missense_Mutation_p.A172G|SEMA6B_uc010xih.1_Missense_Mutation_p.A172G	1	1		probably_damaging(0.998)	p.A172G	NM_032108	NP_115484		deleterious(0)	1	SEM6B_HUMAN	SEMA6B	HGNC	Q9H3T3	SEM6B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)			6	553	-		Hepatocellular(1079;0.137)	UPI000004BA6B	172			Extracellular (Potential).|Sema.		SNV	SEMA6B,missense_variant,p.Ala172Gly,ENST00000586582,NM_032108.3;SEMA6B,missense_variant,p.Ala172Gly,ENST00000301293,;SEMA6B,missense_variant,p.Ala172Gly,ENST00000586965,;	uc010duc.1	c.515C>G	826/3986	3	3			c.515C>G						19	SNP	c.(514-516)GCC>GGC	6	6			skin(1)	1	Broad	semaphorin 6B precursor			4555533		0.622	ENSG00000167680	13820	g.chr19:4555533G>C	cell differentiation|nervous system development	integral to membrane	receptor activity							51.068754	KEEP	10	11	-1	63	35	10	11	-1	58.617916	63	35	0.204301	1	0	0	0	0	1	0	0	0	--	--		0	C			SEMA6B_uc010dud.2_Missense_Mutation_p.A172G|SEMA6B_uc010xih.1_Missense_Mutation_p.A172G	39	GBM-06-0184-TP	p.A172G	G	CGGGCAGCGGGCCATACCGCT	NM_032108	NP_115484	4555533	Q9H3T3	SEM6B_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	6	553	-	C	C		Hepatocellular(1079;0.137)	Missense_Mutation	172			Extracellular (Potential).|Sema.			
SEMA6D	80031	broad.mit.edu	GRCh37	15	48056239	48056239	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01	TCGA-02-0055-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316364.5:c.940G>A	p.Gly314Arg	p.G314R	ENST00000316364	NM_153618.1	314	Ggg/Agg	0			1			A	G/R	uc010bek.2	protein_coding	YES	CCDS32225.1			940/3222									skin(3)|breast(1)	4	c.(940-942)GGG>AGG			Superfamily_domains:SSF101912,SMART_domains:SM00630,Gene3D:2.130.10.10,Pfam_domain:PF01403,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF65,PROSITE_profiles:PS51004	semaphorin 6D isoform 4 precursor				ENSP00000324857		19-Oct									COSM3401774,COSM3401775	19-Oct	.		ENST00000316364	Transcript			axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	ENSG00000137872	g.chr15:48056239G>A	16770			MODERATE		3.24	medium	getma.org/?cm=msa&ty=f&p=SEM6D_HUMAN&rb=57&re=483&var=G314R	getma.org/pdb.php?prot=SEM6D_HUMAN&from=57&to=483&var=G314R	getma.org/?cm=var&var=hg19,15,48056239,G,A&fts=all	G314R	--	--	1																																		SEMA6D_uc001zvw.2_Missense_Mutation_p.G314R|SEMA6D_uc001zvx.1_Missense_Mutation_p.G314R|SEMA6D_uc001zvy.2_Missense_Mutation_p.G314R|SEMA6D_uc001zvz.2_Missense_Mutation_p.G314R|SEMA6D_uc001zwa.2_Missense_Mutation_p.G314R|SEMA6D_uc001zwb.2_Missense_Mutation_p.G314R|SEMA6D_uc001zwc.2_Missense_Mutation_p.G314R	1,1	1		probably_damaging(1)	p.G314R	NM_153618	NP_705871		deleterious(0)	1,1	SEM6D_HUMAN	SEMA6D	HGNC	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	Q9HAH9_HUMAN,H0YMV0_HUMAN,H0YMA6_HUMAN,H0YL82_HUMAN		10	1300	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	UPI000006E201	314			Sema.|Extracellular (Potential).		SNV	SEMA6D,missense_variant,p.Gly314Arg,ENST00000316364,NM_153618.1;SEMA6D,missense_variant,p.Gly314Arg,ENST00000389433,;SEMA6D,missense_variant,p.Gly314Arg,ENST00000558014,NM_001198999.1;SEMA6D,missense_variant,p.Gly314Arg,ENST00000389432,;SEMA6D,missense_variant,p.Gly314Arg,ENST00000354744,NM_153617.1;SEMA6D,missense_variant,p.Gly314Arg,ENST00000358066,NM_020858.1;SEMA6D,missense_variant,p.Gly314Arg,ENST00000355997,NM_153619.1;SEMA6D,missense_variant,p.Gly314Arg,ENST00000389428,NM_153616.1;SEMA6D,missense_variant,p.Gly314Arg,ENST00000537942,;SEMA6D,missense_variant,p.Gly314Arg,ENST00000558816,;SEMA6D,missense_variant,p.Gly314Arg,ENST00000536845,;SEMA6D,missense_variant,p.Gly314Arg,ENST00000389425,NM_024966.2;SEMA6D,downstream_gene_variant,,ENST00000559196,;SEMA6D,upstream_gene_variant,,ENST00000560006,;SEMA6D,downstream_gene_variant,,ENST00000561133,;SEMA6D,upstream_gene_variant,,ENST00000559064,;SEMA6D,downstream_gene_variant,,ENST00000559184,;SEMA6D,downstream_gene_variant,,ENST00000560636,;SEMA6D,upstream_gene_variant,,ENST00000558431,;SEMA6D,downstream_gene_variant,,ENST00000561106,;	uc010bek.2	c.940G>A	1379/6099	1	1			c.940G>A						15	SNP	c.(940-942)GGG>AGG	64	64			skin(3)|breast(1)	4	Broad	semaphorin 6D isoform 4 precursor			48056239		0.483	ENSG00000137872	13822	g.chr15:48056239G>A	axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity							-16.593827	KEEP	1	4	-1	58	66	1	4	-1	10.747803	58	66	0.041322	1	0	0	0	0	1	0	0	0	--	--		0	A			SEMA6D_uc001zvw.2_Missense_Mutation_p.G314R|SEMA6D_uc001zvx.1_Missense_Mutation_p.G314R|SEMA6D_uc001zvy.2_Missense_Mutation_p.G314R|SEMA6D_uc001zvz.2_Missense_Mutation_p.G314R|SEMA6D_uc001zwa.2_Missense_Mutation_p.G314R|SEMA6D_uc001zwb.2_Missense_Mutation_p.G314R|SEMA6D_uc001zwc.2_Missense_Mutation_p.G314R	4	GBM-02-0055-TP	p.G314R	G	CACTGTGGTCGGGGTGTTTAC	NM_153618	NP_705871	48056239	Q8NFY4	SEM6D_HUMAN	0		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	10	1300	+	A	A		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	Missense_Mutation	314			Sema.|Extracellular (Potential).			
SEMA6D	0	broad.mit.edu	GRCh37	15	48053911	48053911	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-76-6192-01	TCGA-76-6192-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316364.5:c.501A>G	p.Pro167=	p.P167=	ENST00000316364	NM_153618.1	167	ccA/ccG	0			1			G	P	uc010bek.2	protein_coding	YES	CCDS32225.1			501/3222									skin(3)|breast(1)	4	c.(499-501)CCA>CCG			Superfamily_domains:SSF101912,SMART_domains:SM00630,Gene3D:2.130.10.10,Pfam_domain:PF01403,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF65,PROSITE_profiles:PS51004	semaphorin 6D isoform 4 precursor				ENSP00000324857		19-Jul									COSM3401772,COSM3401773	19-Jul	.		ENST00000316364	Transcript			axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	ENSG00000137872	g.chr15:48053911A>G	16770			LOW								--	--	1																																		SEMA6D_uc001zvw.2_Silent_p.P167P|SEMA6D_uc001zvx.1_Silent_p.P167P|SEMA6D_uc001zvy.2_Silent_p.P167P|SEMA6D_uc001zvz.2_Silent_p.P167P|SEMA6D_uc001zwa.2_Silent_p.P167P|SEMA6D_uc001zwb.2_Silent_p.P167P|SEMA6D_uc001zwc.2_Silent_p.P167P	1,1	1			p.P167P	NM_153618	NP_705871			1,1	SEM6D_HUMAN	SEMA6D	HGNC	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	Q9HAH9_HUMAN,H0YMV0_HUMAN,H0YMA6_HUMAN,H0YL82_HUMAN		7	861	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	UPI000006E201	167			Sema.|Extracellular (Potential).		SNV	SEMA6D,synonymous_variant,p.=,ENST00000316364,NM_153618.1;SEMA6D,synonymous_variant,p.=,ENST00000389433,;SEMA6D,synonymous_variant,p.=,ENST00000558014,NM_001198999.1;SEMA6D,synonymous_variant,p.=,ENST00000389432,;SEMA6D,synonymous_variant,p.=,ENST00000354744,NM_153617.1;SEMA6D,synonymous_variant,p.=,ENST00000358066,NM_020858.1;SEMA6D,synonymous_variant,p.=,ENST00000355997,NM_153619.1;SEMA6D,synonymous_variant,p.=,ENST00000389428,NM_153616.1;SEMA6D,synonymous_variant,p.=,ENST00000537942,;SEMA6D,synonymous_variant,p.=,ENST00000558816,;SEMA6D,synonymous_variant,p.=,ENST00000536845,;SEMA6D,synonymous_variant,p.=,ENST00000389425,NM_024966.2;SEMA6D,synonymous_variant,p.=,ENST00000559196,;SEMA6D,upstream_gene_variant,,ENST00000560006,;SEMA6D,downstream_gene_variant,,ENST00000561133,;SEMA6D,upstream_gene_variant,,ENST00000559064,;SEMA6D,downstream_gene_variant,,ENST00000559184,;SEMA6D,downstream_gene_variant,,ENST00000560636,;SEMA6D,upstream_gene_variant,,ENST00000558431,;SEMA6D,downstream_gene_variant,,ENST00000561106,;	uc010bek.2	c.501A>G	940/6099	3	3			c.501A>G						15	SNP	c.(499-501)CCA>CCG	58	58			skin(3)|breast(1)	4	Broad	semaphorin 6D isoform 4 precursor			48053911		0.373	ENSG00000137872	13822	g.chr15:48053911A>G	axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity							93.186995	KEEP	24	14	-1	46	54	24	14	-1	98.89721	46	54	0.268908	1	0	0	0	0	0	0	1	0	--	--		0	G			SEMA6D_uc001zvw.2_Silent_p.P167P|SEMA6D_uc001zvx.1_Silent_p.P167P|SEMA6D_uc001zvy.2_Silent_p.P167P|SEMA6D_uc001zvz.2_Silent_p.P167P|SEMA6D_uc001zwa.2_Silent_p.P167P|SEMA6D_uc001zwb.2_Silent_p.P167P|SEMA6D_uc001zwc.2_Silent_p.P167P	275	GBM-76-6192-TP	p.P167P	A	CAAGATGCCCATTTGATGCCA	NM_153618	NP_705871	48053911	Q8NFY4	SEM6D_HUMAN	0		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	7	861	+	G	G		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	Silent	167			Sema.|Extracellular (Potential).			
SEMA7A	0	broad.mit.edu	GRCh37	15	74708161	74708161	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01	TCGA-28-2509-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261918.4:c.967G>A	p.Gly323Ser	p.G323S	ENST00000261918	NM_003612.3	323	Ggt/Agt	0			1			T	G/S	uc002axv.2	protein_coding	YES	CCDS10262.1			967/2001									breast(1)|central_nervous_system(1)	2	c.(967-969)GGT>AGT			PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF67,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912	semaphorin 7A isoform 1 preproprotein				ENSP00000261918		14-Aug									COSM3401914	14-Aug	.		ENST00000261918	Transcript	1		axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	ENSG00000138623	g.chr15:74708161C>T	10741			MODERATE		3.15	medium	getma.org/?cm=msa&ty=f&p=SEM7A_HUMAN&rb=75&re=474&var=G323S	getma.org/pdb.php?prot=SEM7A_HUMAN&from=75&to=474&var=G323S	getma.org/?cm=var&var=hg19,15,74708161,C,T&fts=all	G323S	--	--	1																																		SEMA7A_uc010ulk.1_Missense_Mutation_p.G158S|SEMA7A_uc010ull.1_Missense_Mutation_p.G309S	1	1		probably_damaging(1)	p.G323S	NM_003612	NP_003603		deleterious(0)	1	SEM7A_HUMAN	SEMA7A	HGNC	O75326	SEM7A_HUMAN			H3BMF9_HUMAN,F5GYX3_HUMAN,B3KMH6_HUMAN		8	1007	-			UPI00000312F0	323			Sema.		SNV	SEMA7A,missense_variant,p.Gly323Ser,ENST00000261918,NM_003612.3;SEMA7A,missense_variant,p.Gly158Ser,ENST00000542748,NM_001146030.1;SEMA7A,missense_variant,p.Gly309Ser,ENST00000543145,NM_001146029.1;SEMA7A,downstream_gene_variant,,ENST00000567345,;SEMA7A,upstream_gene_variant,,ENST00000569617,;	uc002axv.2	c.967G>A	1516/3885	2	2			c.967G>A						15	SNP	c.(967-969)GGT>AGT	47	47			breast(1)|central_nervous_system(1)	2	Broad	semaphorin 7A isoform 1 preproprotein			74708161		0.612	ENSG00000138623	13823	g.chr15:74708161C>T	axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity							82.702729	KEEP	13	15	-1	9	23	13	15	-1	82.882563	9	23	0.438596	1	0	0	0	0	1	0	0	0	--	--		0	T			SEMA7A_uc010ulk.1_Missense_Mutation_p.G158S|SEMA7A_uc010ull.1_Missense_Mutation_p.G309S	211	GBM-28-2509-TP	p.G323S	C	GAGAAAACACCATAGACCCTG	NM_003612	NP_003603	74708161	O75326	SEM7A_HUMAN	0			8	1007	-	T	T			Missense_Mutation	323			Sema.			
SEMG1	6406	broad.mit.edu	GRCh37	20	43836290	43836290	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0158-01	TCGA-06-0158-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372781.3:c.352A>G	p.Lys118Glu	p.K118E	ENST00000372781	NM_003007.3	118	Aaa/Gaa	0			1			G	K/E	uc002xni.2	protein_coding	YES	CCDS13345.1			352/1389									skin(2)	2	c.(352-354)AAA>GAA			Pfam_domain:PF05474,hmmpanther:PTHR10547,hmmpanther:PTHR10547:SF4	semenogelin I preproprotein				ENSP00000361867		3-Feb									COSM2150110	3-Feb	.		ENST00000372781	Transcript			insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	ENSG00000124233	g.chr20:43836290A>G	10742			MODERATE		1.955	medium	getma.org/?cm=msa&ty=f&p=SEMG1_HUMAN&rb=1&re=371&var=K118E	NA	getma.org/?cm=var&var=hg19,20,43836290,A,G&fts=all	K118E	--	--	1																																		SEMG1_uc002xnj.2_Missense_Mutation_p.K118E|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Missense_Mutation_p.K118E	1	1		probably_damaging(0.995)	p.K118E	NM_003007	NP_002998		tolerated(0.34)	1	SEMG1_HUMAN	SEMG1	HGNC	P04279	SEMG1_HUMAN			Q6Y808_HUMAN		2	409	+		Myeloproliferative disorder(115;0.0122)	UPI0000135844	118					SNV	SEMG1,missense_variant,p.Lys118Glu,ENST00000372781,NM_003007.3;SEMG1,missense_variant,p.Lys118Glu,ENST00000244069,;	uc002xni.2	c.352A>G	409/1662	3	3			c.352A>G						20	SNP	c.(352-354)AAA>GAA	6	6			skin(2)	2	Broad	semenogelin I preproprotein			43836290		0.408	ENSG00000124233	13824	g.chr20:43836290A>G	insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity							179.270252	KEEP	26	31	-1	70	89	26	31	-1	188.644892	70	89	0.271357	1	0	0	0	0	1	0	0	0	--	--		0	G			SEMG1_uc002xnj.2_Missense_Mutation_p.K118E|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Missense_Mutation_p.K118E	29	GBM-06-0158-TP	p.K118E	A	AGACCATGATAAATCAAAAGG	NM_003007	NP_002998	43836290	P04279	SEMG1_HUMAN	0			2	409	+	G	G		Myeloproliferative disorder(115;0.0122)	Missense_Mutation	118						
SEMG1	6406	broad.mit.edu	GRCh37	20	43836503	43836503	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs113377758	byFrequency;by1000genomes	TCGA-06-0185-01	TCGA-06-0185-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372781.3:c.565G>T	p.Gly189Ter	p.G189*	ENST00000372781	NM_003007.3	189	Gga/Tga	0			1			T	G/*	uc002xni.2	protein_coding	YES	CCDS13345.1			565/1389									skin(2)	2	c.(565-567)GGA>TGA			Pfam_domain:PF05474,hmmpanther:PTHR10547,hmmpanther:PTHR10547:SF4	semenogelin I preproprotein				ENSP00000361867		3-Feb									COSM3405126	3-Feb	.		ENST00000372781	Transcript			insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	ENSG00000124233	g.chr20:43836503G>T	10742			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,20,43836503,G,T&fts=all	G189*	--	--	1																																		SEMG1_uc002xnj.2_Nonsense_Mutation_p.G189*|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Nonsense_Mutation_p.G189*	1	1			p.G189*	NM_003007	NP_002998			1	SEMG1_HUMAN	SEMG1	HGNC	P04279	SEMG1_HUMAN			Q6Y808_HUMAN		2	622	+		Myeloproliferative disorder(115;0.0122)	UPI0000135844	189			42 AA repeat 1.		SNV	SEMG1,stop_gained,p.Gly189Ter,ENST00000372781,NM_003007.3;SEMG1,stop_gained,p.Gly189Ter,ENST00000244069,;	uc002xni.2	c.565G>T	622/1662	5	2			c.565G>T						20	SNP	c.(565-567)GGA>TGA	33	33			skin(2)	2	Broad	semenogelin I preproprotein			43836503		0.388	ENSG00000124233	13824	g.chr20:43836503G>T	insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity							-13.991962	KEEP	5	6	0.454545455	83	93	5	6	0.454545455	22.03428	83	93	0.057143	1	0	0	0	0	0	1	0	0	--	--		0	T			SEMG1_uc002xnj.2_Nonsense_Mutation_p.G189*|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Nonsense_Mutation_p.G189*	40	GBM-06-0185-TP	p.G189*	G	AAAACAAGGCGGATCCCAAAG	NM_003007	NP_002998	43836503	P04279	SEMG1_HUMAN	0			2	622	+	T	T		Myeloproliferative disorder(115;0.0122)	Nonsense_Mutation	189			42 AA repeat 1.			
SEMG1	6406	broad.mit.edu	GRCh37	20	43836216	43836216	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01	TCGA-06-0195-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372781.3:c.278C>T	p.Thr93Met	p.T93M	ENST00000372781	NM_003007.3	93	aCg/aTg	0	T:0.0005		1			T	T/M	uc002xni.2	protein_coding	YES	CCDS13345.1			278/1389									skin(2)	2	c.(277-279)ACG>ATG			Pfam_domain:PF05474,hmmpanther:PTHR10547,hmmpanther:PTHR10547:SF4	semenogelin I preproprotein			T:0	ENSP00000361867		3-Feb	5.77E-05	0.000192	8.68E-05			4.50E-05		6.06E-05	rs199781597,COSM1736654	3-Feb	.		ENST00000372781	Transcript			insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	ENSG00000124233	g.chr20:43836216C>T	10742			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=SEMG1_HUMAN&rb=1&re=371&var=T93M	NA	getma.org/?cm=var&var=hg19,20,43836216,C,T&fts=all	T93M	--	--	1																																		SEMG1_uc002xnj.2_Missense_Mutation_p.T93M|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Missense_Mutation_p.T93M	0,1	1		benign(0.04)	p.T93M	NM_003007	NP_002998		tolerated(0.44)	0,1	SEMG1_HUMAN	SEMG1	HGNC	P04279	SEMG1_HUMAN			Q6Y808_HUMAN		2	335	+		Myeloproliferative disorder(115;0.0122)	UPI0000135844	93					SNV	SEMG1,missense_variant,p.Thr93Met,ENST00000372781,NM_003007.3;SEMG1,missense_variant,p.Thr93Met,ENST00000244069,;	uc002xni.2	c.278C>T	335/1662	2	2			c.278C>T						20	SNP	c.(277-279)ACG>ATG	28	28			skin(2)	2	Broad	semenogelin I preproprotein			43836216		0.378	ENSG00000124233	13824	g.chr20:43836216C>T	insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity							186.06125	KEEP	36	36	-1	50	65	36	36	-1	187.792294	50	65	0.390244	1	0	0	0	0	1	0	0	0	--	--		0	T			SEMG1_uc002xnj.2_Missense_Mutation_p.T93M|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Missense_Mutation_p.T93M	45	GBM-06-0195-TP	p.T93M	C	CTACATAAGACGACAAAATCA	NM_003007	NP_002998	43836216	P04279	SEMG1_HUMAN	0			2	335	+	T	T		Myeloproliferative disorder(115;0.0122)	Missense_Mutation	93						
SEMG1	6406	broad.mit.edu	GRCh37	20	43837052	43837052	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0876-01	TCGA-06-0876-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372781.3:c.1114C>T	p.Arg372Cys	p.R372C	ENST00000372781	NM_003007.3	372	Cgc/Tgc	0		T:0.0008	1	T:0		T	R/C	uc002xni.2	protein_coding	YES	CCDS13345.1			1114/1389									skin(2)	2	c.(1114-1116)CGC>TGC			Pfam_domain:PF05474,hmmpanther:PTHR10547,hmmpanther:PTHR10547:SF4	semenogelin I preproprotein		T:0		ENSP00000361867	T:0.001	3-Feb	0.000115	0.000193				0.000165		6.06E-05	rs199672858,COSM2152112	3-Feb	.		ENST00000372781	Transcript		T:0.0004	insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	ENSG00000124233	g.chr20:43837052C>T	10742			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=SEMG1_HUMAN&rb=283&re=462&var=R372C	NA	getma.org/?cm=var&var=hg19,20,43837052,C,T&fts=all	R372C	--	--	1																																		SEMG1_uc002xnj.2_Missense_Mutation_p.R312C|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Intron	0,1	1		benign(0.018)	p.R372C	NM_003007	NP_002998	T:0	deleterious(0.01)	0,1	SEMG1_HUMAN	SEMG1	HGNC	P04279	SEMG1_HUMAN			Q6Y808_HUMAN		2	1171	+		Myeloproliferative disorder(115;0.0122)	UPI0000135844	372			58 AA repeat 2.		SNV	SEMG1,missense_variant,p.Arg372Cys,ENST00000372781,NM_003007.3;SEMG1,missense_variant,p.Arg312Cys,ENST00000244069,;	uc002xni.2	c.1114C>T	1171/1662	1	1			c.1114C>T						20	SNP	c.(1114-1116)CGC>TGC	6	6			skin(2)	2	Broad	semenogelin I preproprotein			43837052		0.418	ENSG00000124233	13824	g.chr20:43837052C>T	insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity							86.523816	KEEP	18	17	-1	29	20	18	17	-1	87.34826	29	20	0.38961	1	0	0	0	0	1	0	0	0	--	--		0	T			SEMG1_uc002xnj.2_Missense_Mutation_p.R312C|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Intron	72	GBM-06-0876-TP	p.R372C	C	TGTATCCCAACGCAGTATTTA	NM_003007	NP_002998	43837052	P04279	SEMG1_HUMAN	0			2	1171	+	T	T		Myeloproliferative disorder(115;0.0122)	Missense_Mutation	372			58 AA repeat 2.			
SEMG1	0	broad.mit.edu	GRCh37	20	43837052	43837052	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372781.3:c.1114C>T	p.Arg372Cys	p.R372C	ENST00000372781	NM_003007.3	372	Cgc/Tgc	0		T:0.0008	1	T:0		T	R/C	uc002xni.2	protein_coding	YES	CCDS13345.1			1114/1389									skin(2)	2	c.(1114-1116)CGC>TGC			Pfam_domain:PF05474,hmmpanther:PTHR10547,hmmpanther:PTHR10547:SF4	semenogelin I preproprotein		T:0		ENSP00000361867	T:0.001	3-Feb	0.000115	0.000193				0.000165		6.06E-05	rs199672858,COSM2152112	3-Feb	.		ENST00000372781	Transcript		T:0.0004	insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	ENSG00000124233	g.chr20:43837052C>T	10742			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=SEMG1_HUMAN&rb=283&re=462&var=R372C	NA	getma.org/?cm=var&var=hg19,20,43837052,C,T&fts=all	R372C	--	--	1																																		SEMG1_uc002xnj.2_Missense_Mutation_p.R312C|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Intron	0,1	1		benign(0.018)	p.R372C	NM_003007	NP_002998	T:0	deleterious(0.01)	0,1	SEMG1_HUMAN	SEMG1	HGNC	P04279	SEMG1_HUMAN			Q6Y808_HUMAN		2	1171	+		Myeloproliferative disorder(115;0.0122)	UPI0000135844	372			58 AA repeat 2.		SNV	SEMG1,missense_variant,p.Arg372Cys,ENST00000372781,NM_003007.3;SEMG1,missense_variant,p.Arg312Cys,ENST00000244069,;	uc002xni.2	c.1114C>T	1171/1662	1	1			c.1114C>T						20	SNP	c.(1114-1116)CGC>TGC	6	6			skin(2)	2	Broad	semenogelin I preproprotein			43837052		0.418	ENSG00000124233	13824	g.chr20:43837052C>T	insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity							52.101702	KEEP	9	11	-1	24	24	9	11	-1	54.172844	24	24	0.306452	1	0	0	0	0	1	0	0	0	--	--		0	T			SEMG1_uc002xnj.2_Missense_Mutation_p.R312C|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Intron	230	GBM-32-1979-TP	p.R372C	C	TGTATCCCAACGCAGTATTTA	NM_003007	NP_002998	43837052	P04279	SEMG1_HUMAN	0			2	1171	+	T	T		Myeloproliferative disorder(115;0.0122)	Missense_Mutation	372			58 AA repeat 2.			
SEMG1	0	broad.mit.edu	GRCh37	20	43836560	43836560	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs141417035	by1000genomes	TCGA-32-2632-01	TCGA-32-2632-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372781.3:c.622C>T	p.Arg208Cys	p.R208C	ENST00000372781	NM_003007.3	208	Cgt/Tgt	0		T:0	1	T:0		T	R/C	uc002xni.2	protein_coding	YES	CCDS13345.1			622/1389									skin(2)	2	c.(622-624)CGT>TGT			Pfam_domain:PF05474,hmmpanther:PTHR10547,hmmpanther:PTHR10547:SF4	semenogelin I preproprotein		T:0.001		ENSP00000361867	T:0	3-Feb	4.94E-05		0.000174	0.000231		3.00E-05			rs141417035,COSM3389775	3-Feb	.		ENST00000372781	Transcript		T:0.0002	insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	ENSG00000124233	g.chr20:43836560C>T	10742			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=SEMG1_HUMAN&rb=1&re=371&var=R208C	NA	getma.org/?cm=var&var=hg19,20,43836560,C,T&fts=all	R208C	--	--	1																																		SEMG1_uc002xnj.2_Missense_Mutation_p.R208C|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Missense_Mutation_p.R208C	0,1	1		probably_damaging(0.959)	p.R208C	NM_003007	NP_002998	T:0	deleterious(0.02)	0,1	SEMG1_HUMAN	SEMG1	HGNC	P04279	SEMG1_HUMAN			Q6Y808_HUMAN		2	679	+		Myeloproliferative disorder(115;0.0122)	UPI0000135844	208			42 AA repeat 1.		SNV	SEMG1,missense_variant,p.Arg208Cys,ENST00000372781,NM_003007.3;SEMG1,missense_variant,p.Arg208Cys,ENST00000244069,;	uc002xni.2	c.622C>T	679/1662	2	2			c.622C>T						20	SNP	c.(622-624)CGT>TGT	30	30			skin(2)	2	Broad	semenogelin I preproprotein			43836560		0.403	ENSG00000124233	13824	g.chr20:43836560C>T	insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity							110.921592	KEEP	17	22	-1	26	46	17	22	-1	112.683686	26	46	0.361905	1	0	0	0	0	1	0	0	0	--	--		0	T			SEMG1_uc002xnj.2_Missense_Mutation_p.R208C|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Missense_Mutation_p.R208C	240	GBM-32-2632-TP	p.R208C	C	CAAACAACAACGTGAGACTAA	NM_003007	NP_002998	43836560	P04279	SEMG1_HUMAN	0			2	679	+	T	T		Myeloproliferative disorder(115;0.0122)	Missense_Mutation	208			42 AA repeat 1.			
SEMG2	6407	broad.mit.edu	GRCh37	20	43851147	43851147	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140069155		TCGA-06-5856-01	TCGA-06-5856-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372769.3:c.874C>T	p.Arg292Cys	p.R292C	ENST00000372769	NM_003008.2	292	Cgt/Tgt	0	T:0	T:0	1	T:0		T	R/C	uc010ggz.2	protein_coding	YES	CCDS13346.1			874/1749									skin(1)	1	c.(874-876)CGT>TGT			Pfam_domain:PF05474,hmmpanther:PTHR10547,hmmpanther:PTHR10547:SF6	semenogelin II precursor		T:0.001	T:0.0006	ENSP00000361855	T:0.002	3-Feb	0.000239		8.69E-05	0.000116		0.000391	0.00111		rs140069155,COSM1265253	3-Feb	.		ENST00000372769	Transcript		T:0.0006	sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	ENSG00000124157	g.chr20:43851147C>T	10743			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=SEMG2_HUMAN&rb=1&re=582&var=R292C	NA	getma.org/?cm=var&var=hg19,20,43851147,C,T&fts=all	R292C	--	--	1																																		SEMG2_uc002xnk.2_Missense_Mutation_p.R292C|SEMG2_uc002xnl.2_Missense_Mutation_p.R292C	0,1	1		possibly_damaging(0.84)	p.R292C	NM_003008	NP_002999	T:0	deleterious(0.01)	0,1	SEMG2_HUMAN	SEMG2	HGNC	Q02383	SEMG2_HUMAN					2	931	+		Myeloproliferative disorder(115;0.0122)	UPI0000135845	292			Repeat-rich region.|4 X 60 AA tandem repeats, type I.		SNV	SEMG2,missense_variant,p.Arg292Cys,ENST00000372769,NM_003008.2;	uc010ggz.2	c.874C>T	964/2051	2	2			c.874C>T						20	SNP	c.(874-876)CGT>TGT	24	24			skin(1)	1	Broad	semenogelin II precursor			43851147		0.393	ENSG00000124157	13825	g.chr20:43851147C>T	sexual reproduction	extracellular space|stored secretory granule	structural molecule activity							87.858588	KEEP	14	15	-1	13	31	14	15	-1	88.378937	13	31	0.408451	1	0	0	0	0	1	0	0	0	--	--		0	T			SEMG2_uc002xnk.2_Missense_Mutation_p.R292C|SEMG2_uc002xnl.2_Missense_Mutation_p.R292C	101	GBM-06-5856-TP	p.R292C	C	CCCGTCTTCACGTACAGAAGA	NM_003008	NP_002999	43851147	Q02383	SEMG2_HUMAN	0			2	931	+	T	T		Myeloproliferative disorder(115;0.0122)	Missense_Mutation	292			Repeat-rich region.|4 X 60 AA tandem repeats, type I.			
SEMG2	0	broad.mit.edu	GRCh37	20	43851266	43851266	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-12-3652-01	TCGA-12-3652-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372769.3:c.993A>G	p.Thr331=	p.T331=	ENST00000372769	NM_003008.2	331	acA/acG	0			1			G	T	uc010ggz.2	protein_coding	YES	CCDS13346.1			993/1749									skin(1)	1	c.(991-993)ACA>ACG			Pfam_domain:PF05474,hmmpanther:PTHR10547,hmmpanther:PTHR10547:SF6	semenogelin II precursor				ENSP00000361855		3-Feb									COSM3405128	3-Feb	.		ENST00000372769	Transcript			sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	ENSG00000124157	g.chr20:43851266A>G	10743			LOW								--	--	1																																		SEMG2_uc002xnk.2_Silent_p.T331T|SEMG2_uc002xnl.2_Silent_p.T331T	1	1			p.T331T	NM_003008	NP_002999			1	SEMG2_HUMAN	SEMG2	HGNC	Q02383	SEMG2_HUMAN					2	1050	+		Myeloproliferative disorder(115;0.0122)	UPI0000135845	331			Repeat-rich region.|4 X 60 AA tandem repeats, type I.		SNV	SEMG2,synonymous_variant,p.=,ENST00000372769,NM_003008.2;	uc010ggz.2	c.993A>G	1083/2051	3	3			c.993A>G						20	SNP	c.(991-993)ACA>ACG	4	4			skin(1)	1	Broad	semenogelin II precursor			43851266		0.373	ENSG00000124157	13825	g.chr20:43851266A>G	sexual reproduction	extracellular space|stored secretory granule	structural molecule activity							117.700586	KEEP	21	22	-1	46	67	21	22	-1	124.491468	46	67	0.275168	1	0	0	0	0	0	0	1	0	--	--		0	G			SEMG2_uc002xnk.2_Silent_p.T331T|SEMG2_uc002xnl.2_Silent_p.T331T	127	GBM-12-3652-TP	p.T331T	A	ACCAGGTAACAATTCATAGTC	NM_003008	NP_002999	43851266	Q02383	SEMG2_HUMAN	0			2	1050	+	G	G		Myeloproliferative disorder(115;0.0122)	Silent	331			Repeat-rich region.|4 X 60 AA tandem repeats, type I.			
SEMG2	0	broad.mit.edu	GRCh37	20	43851147	43851147	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140069155		TCGA-19-5947-01	TCGA-19-5947-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372769.3:c.874C>T	p.Arg292Cys	p.R292C	ENST00000372769	NM_003008.2	292	Cgt/Tgt	0	T:0	T:0	1	T:0		T	R/C	uc010ggz.2	protein_coding	YES	CCDS13346.1			874/1749									skin(1)	1	c.(874-876)CGT>TGT			Pfam_domain:PF05474,hmmpanther:PTHR10547,hmmpanther:PTHR10547:SF6	semenogelin II precursor		T:0.001	T:0.0006	ENSP00000361855	T:0.002	3-Feb	0.000239		8.69E-05	0.000116		0.000391	0.00111		rs140069155,COSM1265253	3-Feb	.		ENST00000372769	Transcript		T:0.0006	sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	ENSG00000124157	g.chr20:43851147C>T	10743			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=SEMG2_HUMAN&rb=1&re=582&var=R292C	NA	getma.org/?cm=var&var=hg19,20,43851147,C,T&fts=all	R292C	--	--	1																																		SEMG2_uc002xnk.2_Missense_Mutation_p.R292C|SEMG2_uc002xnl.2_Missense_Mutation_p.R292C	0,1	1		possibly_damaging(0.84)	p.R292C	NM_003008	NP_002999	T:0	deleterious(0.01)	0,1	SEMG2_HUMAN	SEMG2	HGNC	Q02383	SEMG2_HUMAN					2	931	+		Myeloproliferative disorder(115;0.0122)	UPI0000135845	292			Repeat-rich region.|4 X 60 AA tandem repeats, type I.		SNV	SEMG2,missense_variant,p.Arg292Cys,ENST00000372769,NM_003008.2;	uc010ggz.2	c.874C>T	964/2051	2	2			c.874C>T						20	SNP	c.(874-876)CGT>TGT	24	24			skin(1)	1	Broad	semenogelin II precursor			43851147		0.393	ENSG00000124157	13825	g.chr20:43851147C>T	sexual reproduction	extracellular space|stored secretory granule	structural molecule activity							37.126363	KEEP	14	5	-1	32	39	14	5	-1	44.446138	32	39	0.197674	1	0	0	0	0	1	0	0	0	--	--		0	T			SEMG2_uc002xnk.2_Missense_Mutation_p.R292C|SEMG2_uc002xnl.2_Missense_Mutation_p.R292C	169	GBM-19-5947-TP	p.R292C	C	CCCGTCTTCACGTACAGAAGA	NM_003008	NP_002999	43851147	Q02383	SEMG2_HUMAN	0			2	931	+	T	T		Myeloproliferative disorder(115;0.0122)	Missense_Mutation	292			Repeat-rich region.|4 X 60 AA tandem repeats, type I.			
SEMG2	0	broad.mit.edu	GRCh37	20	43851621	43851621	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1833-01	TCGA-27-1833-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372769.3:c.1348G>A	p.Val450Ile	p.V450I	ENST00000372769	NM_003008.2	450	Gta/Ata	0			1			A	V/I	uc010ggz.2	protein_coding	YES	CCDS13346.1			1348/1749									skin(1)	1	c.(1348-1350)GTA>ATA			Pfam_domain:PF05474,hmmpanther:PTHR10547,hmmpanther:PTHR10547:SF6	semenogelin II precursor				ENSP00000361855		3-Feb	4.12E-05							0.000303	rs770342441,COSM3405129	3-Feb	.		ENST00000372769	Transcript			sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	ENSG00000124157	g.chr20:43851621G>A	10743			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=SEMG2_HUMAN&rb=1&re=582&var=V450I	NA	getma.org/?cm=var&var=hg19,20,43851621,G,A&fts=all	V450I	--	--	1																																		SEMG2_uc002xnk.2_Missense_Mutation_p.V450I|SEMG2_uc002xnl.2_Intron	0,1	1		benign(0.299)	p.V450I	NM_003008	NP_002999		tolerated(0.59)	0,1	SEMG2_HUMAN	SEMG2	HGNC	Q02383	SEMG2_HUMAN					2	1405	+		Myeloproliferative disorder(115;0.0122)	UPI0000135845	450			Repeat-rich region.|4 X 60 AA tandem repeats, type I.		SNV	SEMG2,missense_variant,p.Val450Ile,ENST00000372769,NM_003008.2;	uc010ggz.2	c.1348G>A	1438/2051	1	1			c.1348G>A						20	SNP	c.(1348-1350)GTA>ATA	55	55			skin(1)	1	Broad	semenogelin II precursor			43851621		0.383	ENSG00000124157	13825	g.chr20:43851621G>A	sexual reproduction	extracellular space|stored secretory granule	structural molecule activity							144.038602	KEEP	27	27	-1	58	60	27	27	-1	148.919605	58	60	0.317073	1	0	0	0	0	1	0	0	0	--	--		0	A			SEMG2_uc002xnk.2_Missense_Mutation_p.V450I|SEMG2_uc002xnl.2_Intron	192	GBM-27-1833-TP	p.V450I	G	TCAAAACCAGGTAACAATTCC	NM_003008	NP_002999	43851621	Q02383	SEMG2_HUMAN	0			2	1405	+	A	A		Myeloproliferative disorder(115;0.0122)	Missense_Mutation	450			Repeat-rich region.|4 X 60 AA tandem repeats, type I.			
SEMG2	6407		GRCh37	20	43851863	43851863	+	synonymous_variant	Silent	SNP	T	T	A			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000372769.3:c.1590T>A	p.Ser530=	p.S530=	ENST00000372769	NM_003008.2	530	tcT/tcA	0																																																																																																																																																																																																																																												
SENP1	29843		GRCh37	12	48465464	48465464	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000004980.5:c.981G>A	p.Gln327=	p.Q327=	ENST00000004980		327	caG/caA	0																																																																																																																																																																																																																																												
SENP3	0	broad.mit.edu	GRCh37	17	7466491	7466491	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01	TCGA-26-6174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321337.7:c.98G>A	p.Arg33His	p.R33H	ENST00000321337	NM_015670.5	33	cGt/cAt	0			1			A	R/H	uc002ghm.2	protein_coding					98/1722									ovary(1)|central_nervous_system(1)	2	c.(97-99)CGT>CAT			hmmpanther:PTHR12606,hmmpanther:PTHR12606:SF10,Low_complexity_(Seg):seg	SUMO1/sentrin/SMT3 specific protease 3				ENSP00000314029		12-Feb									COSM3403241	12-Feb	.		ENST00000321337	Transcript			proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity	ENSG00000161956	g.chr17:7466491G>A	17862			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=SENP3_HUMAN&rb=18&re=88&var=R33H	NA	getma.org/?cm=var&var=hg19,17,7466491,G,A&fts=all	R33H	--	--	1																																		EIF4A1_uc002gho.1_5'Flank|SENP3_uc002ghn.1_5'Flank	1			unknown(0)	p.R33H	NM_015670	NP_056485			1		SENP3	HGNC	Q9H4L4	SENP3_HUMAN			J3KNH7_HUMAN		2	371	+		Prostate(122;0.157)	UPI000013E126	33			Pro-rich.		SNV	SENP3,missense_variant,p.Arg33His,ENST00000321337,NM_015670.5;SENP3,missense_variant,p.Arg33His,ENST00000429205,;TNFSF13,downstream_gene_variant,,ENST00000349228,NM_172087.2;TNFSF13,downstream_gene_variant,,ENST00000338784,NM_003808.3;TNFSF12-TNFSF13,downstream_gene_variant,,ENST00000293826,NM_172089.3;TNFSF12,downstream_gene_variant,,ENST00000557233,;TNFSF13,downstream_gene_variant,,ENST00000396545,NM_172088.2;TNFSF13,downstream_gene_variant,,ENST00000380535,NM_001198623.1;TNFSF13,downstream_gene_variant,,ENST00000483039,;SENP3,upstream_gene_variant,,ENST00000580231,;TNFSF13,downstream_gene_variant,,ENST00000396542,NM_001198624.1;TNFSF13,downstream_gene_variant,,ENST00000436057,;TNFSF13,downstream_gene_variant,,ENST00000438470,;SENP3,non_coding_transcript_exon_variant,,ENST00000578868,;SENP3-EIF4A1,upstream_gene_variant,,ENST00000579777,;SENP3,upstream_gene_variant,,ENST00000580042,;SENP3,upstream_gene_variant,,ENST00000578813,;SENP3,upstream_gene_variant,,ENST00000583277,;SENP3,upstream_gene_variant,,ENST00000580997,;	uc002ghm.2	c.98G>A	418/2429	1	1			c.98G>A						17	SNP	c.(97-99)CGT>CAT	52	52			ovary(1)|central_nervous_system(1)	2	Broad	SUMO1/sentrin/SMT3 specific protease 3			7466491		0.637	ENSG00000161956	13828	g.chr17:7466491G>A	proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity							21.291447	KEEP	4	4	-1	7	9	4	4	-1	21.882138	7	9	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	A			EIF4A1_uc002gho.1_5'Flank|SENP3_uc002ghn.1_5'Flank	188	GBM-26-6174-TP	p.R33H	G	GAGCGTCTTCGTTGGCCCCCA	NM_015670	NP_056485	7466491	Q9H4L4	SENP3_HUMAN	0			2	371	+	A	A		Prostate(122;0.157)	Missense_Mutation	33			Pro-rich.			
SENP5	0	broad.mit.edu	GRCh37	3	196613120	196613120	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5218-01	TCGA-28-5218-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323460.5:c.1068G>A	p.Trp356Ter	p.W356*	ENST00000323460	NM_152699.4	356	tgG/tgA	0			1			A	W/*	uc003fwz.3	protein_coding	YES	CCDS3322.1			1068/2268									breast(2)|lung(1)	3	c.(1066-1068)TGG>TGA			hmmpanther:PTHR12606,hmmpanther:PTHR12606:SF12	SUMO1/sentrin specific peptidase 5				ENSP00000327197		10-Feb									COSM3408551	10-Feb	.		ENST00000323460	Transcript			cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	ENSG00000119231	g.chr3:196613120G>A	28407			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,3,196613120,G,A&fts=all	W356*	--	--	1																																		SENP5_uc011bty.1_Nonsense_Mutation_p.W356*	1	1			p.W356*	NM_152699	NP_689912			1	SENP5_HUMAN	SENP5	HGNC	Q96HI0	SENP5_HUMAN	Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)	C9JHT8_HUMAN		2	1317	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		UPI00001AF3BE	356					SNV	SENP5,stop_gained,p.Trp356Ter,ENST00000323460,NM_152699.4;SENP5,stop_gained,p.Trp356Ter,ENST00000445299,;SENP5,intron_variant,,ENST00000419026,;	uc003fwz.3	c.1068G>A	1317/6308	5	2			c.1068G>A						3	SNP	c.(1066-1068)TGG>TGA	21	21			breast(2)|lung(1)	3	Broad	SUMO1/sentrin specific peptidase 5			196613120		0.468	ENSG00000119231	13829	g.chr3:196613120G>A	cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	Ovarian(47;891 1095 11174 13858 51271)			Ovarian(47;891 1095 11174 13858 51271)			192.398822	KEEP	30	31	-1	13	19	30	31	-1	194.247626	13	19	0.655172	1	0	0	0	0	0	1	0	0	--	--		0	A			SENP5_uc011bty.1_Nonsense_Mutation_p.W356*	224	GBM-28-5218-TP	p.W356*	G	CAAACGCCTGGGACCAGTCAT	NM_152699	NP_689912	196613120	Q96HI0	SENP5_HUMAN	0	Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)	2	1317	+	A	A	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Nonsense_Mutation	356						
SENP7	0	broad.mit.edu	GRCh37	3	101136587	101136587	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01	TCGA-28-5208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394095.2:c.332G>A	p.Arg111Gln	p.R111Q	ENST00000394095	NM_020654.3	111	cGa/cAa	0			1			T	R/Q	uc003dut.2	protein_coding	YES	CCDS2941.2			332/3153									ovary(3)|lung(2)	5	c.(331-333)CGA>CAA			hmmpanther:PTHR12438,hmmpanther:PTHR12438:SF3	sentrin/SUMO-specific protease 7 isoform 1				ENSP00000377655		24-May									COSM3408077	24-May	.		ENST00000394095	Transcript			proteolysis	nucleus	cysteine-type peptidase activity	ENSG00000138468	g.chr3:101136587C>T	30402			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=SENP7_HUMAN&rb=104&re=511&var=R111Q	NA	getma.org/?cm=var&var=hg19,3,101136587,C,T&fts=all	R111Q	--	--	1																																		SENP7_uc003duu.2_Missense_Mutation_p.R111Q|SENP7_uc003duv.2_Missense_Mutation_p.R78Q|SENP7_uc003duw.2_Intron|SENP7_uc003dux.2_Intron	1	1		probably_damaging(0.999)	p.R111Q	NM_020654	NP_065705		deleterious(0.01)	1	SENP7_HUMAN	SENP7	HGNC	Q9BQF6	SENP7_HUMAN					5	443	-			UPI0000E56ED1	111					SNV	SENP7,missense_variant,p.Arg111Gln,ENST00000394095,NM_020654.3;SENP7,missense_variant,p.Arg111Gln,ENST00000394094,NM_001077203.1;SENP7,missense_variant,p.Arg78Gln,ENST00000348610,NM_001282802.1;SENP7,intron_variant,,ENST00000314261,NM_001282801.1;SENP7,intron_variant,,ENST00000358203,;SENP7,intron_variant,,ENST00000394091,NM_001282803.1;RP11-144C15.1,downstream_gene_variant,,ENST00000468519,;RP11-144C15.1,downstream_gene_variant,,ENST00000437254,;	uc003dut.2	c.332G>A	386/4945	1	1			c.332G>A						3	SNP	c.(331-333)CGA>CAA	13	13			ovary(3)|lung(2)	5	Broad	sentrin/SUMO-specific protease 7 isoform 1			101136587		0.378	ENSG00000138468	13831	g.chr3:101136587C>T	proteolysis	nucleus	cysteine-type peptidase activity							247.317043	KEEP	44	42	-1	53	52	44	42	-1	247.748998	53	52	0.446927	1	0	0	0	0	1	0	0	0	--	--		0	T			SENP7_uc003duu.2_Missense_Mutation_p.R111Q|SENP7_uc003duv.2_Missense_Mutation_p.R78Q|SENP7_uc003duw.2_Intron|SENP7_uc003dux.2_Intron	217	GBM-28-5208-TP	p.R111Q	C	TCTGAATTTTCGTCCTAAATC	NM_020654	NP_065705	101136587	Q9BQF6	SENP7_HUMAN	0			5	443	-	T	T			Missense_Mutation	111						
SENP7	57337		GRCh37	3	101080632	101080632	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000394095.2:c.1550A>C	p.Asp517Ala	p.D517A	ENST00000394095	NM_020654.3	517	gAt/gCt	0																																																																																																																																																																																																																																												
SENP7	57337		GRCh37	3	101046635	101046635	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000394095.2:c.2890A>G	p.Lys964Glu	p.K964E	ENST00000394095	NM_020654.3	964	Aaa/Gaa	0																																																																																																																																																																																																																																												
SENP8	123228	broad.mit.edu	GRCh37	15	72432087	72432090	+	frameshift_variant	Frame_Shift_Del	DEL	CAGT	CAGT	-			TCGA-06-5412-01	TCGA-06-5412-01	CAGT	CAGT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000544411.1:c.127_130del	p.Gln43PhefsTer45	p.Q43Ffs*45	ENST00000544411	NM_001172110.1	41	aaCAGT/aa	0			1			-	NS/X	uc002atp.2	protein_coding		CCDS10240.1			123-126/639									ovary(1)|skin(1)	2	c.(121-126)AACAGTfs			PROSITE_profiles:PS50600,hmmpanther:PTHR22875,Pfam_domain:PF02902,Superfamily_domains:SSF54001	SUMO/sentrin specific peptidase family member 8				ENSP00000340505		2-Feb									rs772976152	2-Feb	.		ENST00000340912	Transcript			proteolysis		cysteine-type peptidase activity|protein binding	ENSG00000166192	g.chr15:72432087_72432090delCAGT	22992	4		HIGH								--	--	1																																							p.N41fs	NM_145204	NP_660205				SENP8_HUMAN	SENP8	HGNC	Q96LD8	SENP8_HUMAN			H3BTK5_HUMAN,H3BTJ8_HUMAN,H3BS71_HUMAN		2	222_225	+			UPI0000135852	41_42			Protease.		deletion	SENP8,frameshift_variant,p.Gln43PhefsTer45,ENST00000544411,NM_001172110.1,NM_001172109.1;SENP8,frameshift_variant,p.Gln43PhefsTer45,ENST00000544171,NM_001172111.1;SENP8,frameshift_variant,p.Gln43PhefsTer45,ENST00000542035,NM_001166340.1;SENP8,frameshift_variant,p.Gln43PhefsTer45,ENST00000340912,NM_145204.3;SENP8,frameshift_variant,p.Gln43PhefsTer45,ENST00000564082,;SENP8,frameshift_variant,p.Gln43PhefsTer?,ENST00000564863,;SENP8,downstream_gene_variant,,ENST00000567794,;RP11-2I17.4,downstream_gene_variant,,ENST00000568984,;RP11-2I17.1,downstream_gene_variant,,ENST00000478757,;	uc002atp.2	c.123_126delCAGT	339-342/1556	5	5			c.123_126delCAGT						15	DEL	c.(121-126)AACAGTfs	5	5			ovary(1)|skin(1)	2	Broad	SUMO/sentrin specific peptidase family member 8			72432090		0.475	ENSG00000166192	13832	g.chr15:72432087_72432090delCAGT	proteolysis		cysteine-type peptidase activity|protein binding																				0.12	1	1	0	1	0	0	0	0	0	--	--		0	-				95	GBM-06-5412-TP	p.N41fs	CAGT	ACTTTGCCAACAGTCAGTTTCATG	NM_145204	NP_660205	72432087	Q96LD8	SENP8_HUMAN	0			2	222_225	+	-	-			Frame_Shift_Del	41_42			Protease.			
SENP8	0	broad.mit.edu	GRCh37	15	72432114	72432114	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-1986-01	TCGA-32-1986-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340912.4:c.150C>T	p.His50=	p.H50=	ENST00000340912	NM_145204.3	50	caC/caT	0			1			T	H	uc002atp.2	protein_coding		CCDS10240.1			150/639									ovary(1)|skin(1)	2	c.(148-150)CAC>CAT			PROSITE_profiles:PS50600,hmmpanther:PTHR22875,Pfam_domain:PF02902,Superfamily_domains:SSF54001	SUMO/sentrin specific peptidase family member 8				ENSP00000340505		2-Feb									COSM3401903	2-Feb	.		ENST00000340912	Transcript			proteolysis		cysteine-type peptidase activity|protein binding	ENSG00000166192	g.chr15:72432114C>T	22992			LOW								--	--	1																																			1				p.H50H	NM_145204	NP_660205			1	SENP8_HUMAN	SENP8	HGNC	Q96LD8	SENP8_HUMAN			H3BTK5_HUMAN,H3BTJ8_HUMAN,H3BS71_HUMAN		2	249	+			UPI0000135852	50			Protease.		SNV	SENP8,synonymous_variant,p.=,ENST00000544411,NM_001172110.1,NM_001172109.1;SENP8,synonymous_variant,p.=,ENST00000544171,NM_001172111.1;SENP8,synonymous_variant,p.=,ENST00000542035,NM_001166340.1;SENP8,synonymous_variant,p.=,ENST00000340912,NM_145204.3;SENP8,synonymous_variant,p.=,ENST00000564082,;SENP8,synonymous_variant,p.=,ENST00000564863,;SENP8,downstream_gene_variant,,ENST00000567794,;RP11-2I17.4,downstream_gene_variant,,ENST00000568984,;RP11-2I17.1,downstream_gene_variant,,ENST00000478757,;	uc002atp.2	c.150C>T	366/1556	2	2			c.150C>T						15	SNP	c.(148-150)CAC>CAT	24	24			ovary(1)|skin(1)	2	Broad	SUMO/sentrin specific peptidase family member 8			72432114		0.478	ENSG00000166192	13832	g.chr15:72432114C>T	proteolysis		cysteine-type peptidase activity|protein binding							178.247882	KEEP	35	45	-1	104	129	35	45	-1	194.80801	104	129	0.245552	1	0	0	0	0	0	0	1	0	--	--		0	T				233	GBM-32-1986-TP	p.H50H	C	GCTCTGATCACGTCAGTTTCA	NM_145204	NP_660205	72432114	Q96LD8	SENP8_HUMAN	0			2	249	+	T	T			Silent	50			Protease.			
SEPN1	0	broad.mit.edu	GRCh37	1	26140414	26140414	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-2631-01	TCGA-19-2631-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361547.2:c.1430C>A	p.Pro477His	p.P477H	ENST00000361547	NM_020451.2	477	cCc/cAc	0			1			A	P/H	uc010oer.1	protein_coding	YES	CCDS41282.1			1430/1773									ovary(2)	2	c.(1429-1431)CCC>CAC			hmmpanther:PTHR16213,hmmpanther:PTHR16213:SF39	selenoprotein N, 1 isoform 1 precursor				ENSP00000355141		13-Nov									COSM3747842	13-Nov	.		ENST00000361547	Transcript	1			endoplasmic reticulum membrane|extracellular region	protein binding	ENSG00000162430	g.chr1:26140414C>A	15999			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=SELN_HUMAN&rb=171&re=589&var=P477H	NA	getma.org/?cm=var&var=hg19,1,26140414,C,A&fts=all	P477H	--	--	1																																		SEPN1_uc010oes.1_Missense_Mutation_p.P443H	1	1		probably_damaging(0.91)	p.P477H	NM_020451	NP_065184		tolerated(0.05)	1	SELN_HUMAN	SEPN1	HGNC	Q9NZV5	SELN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)	D3DPJ3_HUMAN		14	1485	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	UPI00003761B2	477					SNV	SEPN1,missense_variant,p.Pro477His,ENST00000361547,NM_020451.2;SEPN1,missense_variant,p.Pro443His,ENST00000354177,;SEPN1,missense_variant,p.Pro443His,ENST00000374315,NM_206926.1;AL020996.1,downstream_gene_variant,,ENST00000536896,;MTFR1L,upstream_gene_variant,,ENST00000424294,;RP1-317E23.3,downstream_gene_variant,,ENST00000442055,;SEPN1,non_coding_transcript_exon_variant,,ENST00000494537,;RP1-317E23.6,intron_variant,,ENST00000559265,;RP1-317E23.3,downstream_gene_variant,,ENST00000453649,;RP1-317E23.6,upstream_gene_variant,,ENST00000527604,;	uc010oer.1	c.1430C>A	1485/4332	1	1			c.1430C>A						1	SNP	c.(1429-1431)CCC>CAC	54	54			ovary(2)	2	Broad	selenoprotein N, 1 isoform 1 precursor			26140414		0.612	ENSG00000162430	13836	g.chr1:26140414C>A		endoplasmic reticulum membrane|extracellular region	protein binding							-36.342326	KEEP	3	4	0.571428571	103	128	3	4	0.571428571	10.36054	103	128	0.030928	1	0	0	0	0	1	0	0	0	--	--		0	A			SEPN1_uc010oes.1_Missense_Mutation_p.P443H	167	GBM-19-2631-TP	p.P477H	C	GAAAGTTCGCCCATCCTCACC	NM_020451	NP_065184	26140414	Q9NZV5	SELN_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)	14	1485	+	A	A		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	Missense_Mutation	477						
SERINC2	347735		GRCh37	1	31897702	31897702	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000373710.1:c.401G>A	p.Arg134Gln	p.R134Q	ENST00000373710	NM_001199038.1	134	cGg/cAg	0																																																																																																																																																																																																																																												
SERINC4	0	broad.mit.edu	GRCh37	15	44090144	44090144	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-28-5213-01	TCGA-28-5213-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319327.6:c.606T>C	p.Ala202=	p.A202=	ENST00000319327	NM_001258031.1	202	gcT/gcC	0			1			G	A	uc010bds.1	protein_coding	YES	CCDS58360.1			606/1557										0	c.(85-87)CTT>CCT			Pfam_domain:PF03348,hmmpanther:PTHR10383,hmmpanther:PTHR10383:SF5	serine incorporator 4				ENSP00000319796		12-May									COSM3401753,COSM3401754	12-May	.		ENST00000319327	Transcript			phospholipid biosynthetic process	integral to membrane		ENSG00000184716	g.chr15:44090144A>G	32237			LOW		1.21	low	getma.org/?cm=msa&ty=f&p=SERC4_HUMAN&rb=35&re=494&var=F272P	NA	getma.org/?cm=var&var=hg19,15,44090144,A,G&fts=all	F272P	--	--	1																																OREG0003944	type=REGULATORY REGION|Gene=AK094716|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	ELL3_uc001zsx.1_5'UTR|C15orf63_uc001ztb.2_Intron|SERINC4_uc001ztc.1_RNA|SERINC4_uc001ztd.1_5'UTR|SERINC4_uc001zte.1_Missense_Mutation_p.L29P|C15orf63_uc001ztf.2_5'Flank|C15orf63_uc001ztg.1_5'Flank	1,1	1			p.L29P	NM_001033517	NP_001028689			1,1	SERC4_HUMAN	SERINC4	HGNC	A6NH21	SERC4_HUMAN		GBM - Glioblastoma multiforme(94;7.81e-07)			3	554	-		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)	UPI000066D938	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					SNV	SERINC4,missense_variant,p.Leu29Pro,ENST00000249714,NM_001258032.1;SERINC4,synonymous_variant,p.=,ENST00000319327,NM_001258031.1;SERINC4,synonymous_variant,p.=,ENST00000299969,;HYPK,5_prime_UTR_variant,,ENST00000406925,;SERF2,intron_variant,,ENST00000409291,;SERF2,intron_variant,,ENST00000594896,;SERF2,intron_variant,,ENST00000409646,;SERF2,intron_variant,,ENST00000430901,;SERF2,downstream_gene_variant,,ENST00000381359,NM_001199877.1;HYPK,upstream_gene_variant,,ENST00000458412,;SERF2,downstream_gene_variant,,ENST00000249786,;SERF2,upstream_gene_variant,,ENST00000600633,NM_016400.3;HYPK,upstream_gene_variant,,ENST00000442995,;SERF2,downstream_gene_variant,,ENST00000409960,NM_001199875.1;SERF2,downstream_gene_variant,,ENST00000403425,;SERF2,downstream_gene_variant,,ENST00000402131,;SERF2,downstream_gene_variant,,ENST00000409614,;SERF2,downstream_gene_variant,,ENST00000339624,NM_001199876.1;MIR1282,upstream_gene_variant,,ENST00000408865,;HYPK,upstream_gene_variant,,ENST00000498605,;HYPK,upstream_gene_variant,,ENST00000497142,;RP11-296A16.1,missense_variant,p.Phe82Leu,ENST00000417761,;SERINC4,missense_variant,p.Phe80Leu,ENST00000412697,;SERINC4,synonymous_variant,p.=,ENST00000448553,;SERINC4,3_prime_UTR_variant,,ENST00000457418,;SERINC4,non_coding_transcript_exon_variant,,ENST00000476490,;SERF2,intron_variant,,ENST00000448830,;SERF2,intron_variant,,ENST00000409617,;SERF2,downstream_gene_variant,,ENST00000445816,;SERF2,downstream_gene_variant,,ENST00000486144,;SERF2,downstream_gene_variant,,ENST00000475927,;	uc010bds.1	c.86T>C	841/2630	4	4			c.86T>C						15	SNP	c.(85-87)CTT>CCT	28	28				0	Broad	serine incorporator 4			44090144		0.463	ENSG00000184716	13862	g.chr15:44090144A>G	phospholipid biosynthetic process	integral to membrane								-3.82539	KEEP	3	0	-1	35	30	3	0	-1	8.504603	35	30	0.051724	1	0	0	0	0	1	0	0	0	--	--		0	G	OREG0003944	type=REGULATORY REGION|Gene=AK094716|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	ELL3_uc001zsx.1_5'UTR|C15orf63_uc001ztb.2_Intron|SERINC4_uc001ztc.1_RNA|SERINC4_uc001ztd.1_5'UTR|SERINC4_uc001zte.1_Missense_Mutation_p.L29P|C15orf63_uc001ztf.2_5'Flank|C15orf63_uc001ztg.1_5'Flank	220	GBM-28-5213-TP	p.L29P	A	AATGGGCAAAAGCTGTAATAA	NM_001033517	NP_001028689	44090144	A6NH21	SERC4_HUMAN	0		GBM - Glioblastoma multiforme(94;7.81e-07)	3	554	-	G	G		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)	Missense_Mutation	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						
SERPINA1	5265	broad.mit.edu	GRCh37	14	94847444	94847444	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000448921.1:c.681C>T	p.Thr227=	p.T227=	ENST00000448921	NM_001127704.1	227	acC/acT	0			1			A	T	uc001ycx.3	protein_coding		CCDS9925.1			681/1257									skin(1)	1	c.(679-681)ACC>ACT			Gene3D:2.30.39.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF150,SMART_domains:SM00093,Superfamily_domains:SSF56574	serine proteinase inhibitor, clade A, member 1	Alpha-1-proteinase inhibitor(DB00058)			ENSP00000348068		5-Mar	5.77E-05		0.000264			3.03E-05		0.000124	rs766320203,COSM2151236	5-Mar	.	Alpha-1-Antitrypsin_Deficiency	ENST00000355814	Transcript	1		acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	ENSG00000197249	g.chr14:94847444G>A	8941			LOW								--	--	1																																		SERPINA1_uc001ycw.3_RNA|SERPINA1_uc010auw.2_Silent_p.T227T|SERPINA1_uc010aux.2_Silent_p.T227T|SERPINA1_uc001ycy.3_Silent_p.T227T|SERPINA1_uc010auy.2_Silent_p.T227T|SERPINA1_uc001ycz.3_Silent_p.T227T|SERPINA1_uc010auz.2_Silent_p.T227T|SERPINA1_uc010ava.2_Silent_p.T227T|SERPINA1_uc001ydb.3_Silent_p.T227T|SERPINA1_uc010avb.2_Silent_p.T227T|SERPINA1_uc001ydc.3_Silent_p.T227T|SERPINA1_uc001yda.1_Silent_p.T227T	0,1				p.T227T	NM_000295	NP_000286			0,1	A1AT_HUMAN	SERPINA1	HGNC	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Q3I0J7_HUMAN,G3V5R8_HUMAN,G3V544_HUMAN,G3V4I7_HUMAN,G3V387_HUMAN,G3V2B9_HUMAN,E9KL23_HUMAN,A6YP93_HUMAN		3	942	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	UPI000000CBEC	227					SNV	SERPINA1,synonymous_variant,p.=,ENST00000448921,NM_001127704.1,NM_001127701.1,NM_001127705.1,NM_001002236.2,NM_001127703.1;SERPINA1,synonymous_variant,p.=,ENST00000437397,NM_001127706.1,NM_001127707.1,NM_001127702.1;SERPINA1,synonymous_variant,p.=,ENST00000355814,NM_001002235.2,NM_001127700.1;SERPINA1,synonymous_variant,p.=,ENST00000440909,;SERPINA1,synonymous_variant,p.=,ENST00000393088,;SERPINA1,synonymous_variant,p.=,ENST00000404814,;SERPINA1,synonymous_variant,p.=,ENST00000393087,NM_000295.4;SERPINA1,synonymous_variant,p.=,ENST00000449399,;SERPINA1,synonymous_variant,p.=,ENST00000402629,;SERPINA1,downstream_gene_variant,,ENST00000557492,;SERPINA1,downstream_gene_variant,,ENST00000556091,;SERPINA1,downstream_gene_variant,,ENST00000557118,;SERPINA1,downstream_gene_variant,,ENST00000553327,;SERPINA1,downstream_gene_variant,,ENST00000556955,;SERPINA1,downstream_gene_variant,,ENST00000554720,;SERPINA1,downstream_gene_variant,,ENST00000555289,;SERPINA1,synonymous_variant,p.=,ENST00000489769,;	uc001ycx.3	c.681C>T	958/3236	2	2			c.681C>T						14	SNP	c.(679-681)ACC>ACT	22	22			skin(1)	1	Broad	serine proteinase inhibitor, clade A, member 1		Alpha-1-proteinase inhibitor(DB00058)	94847444	Alpha-1-Antitrypsin_Deficiency	0.517	ENSG00000197249	13866	g.chr14:94847444G>A	acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity							84.283038	KEEP	10	17	-1	7	11	10	17	-1	84.715577	7	11	0.609756	1	0	0	0	0	0	0	1	0	--	--		0	A			SERPINA1_uc001ycw.3_RNA|SERPINA1_uc010auw.2_Silent_p.T227T|SERPINA1_uc010aux.2_Silent_p.T227T|SERPINA1_uc001ycy.3_Silent_p.T227T|SERPINA1_uc010auy.2_Silent_p.T227T|SERPINA1_uc001ycz.3_Silent_p.T227T|SERPINA1_uc010auz.2_Silent_p.T227T|SERPINA1_uc010ava.2_Silent_p.T227T|SERPINA1_uc001ydb.3_Silent_p.T227T|SERPINA1_uc010avb.2_Silent_p.T227T|SERPINA1_uc001ydc.3_Silent_p.T227T|SERPINA1_uc001yda.1_Silent_p.T227T	58	GBM-06-0644-TP	p.T227T	G	CCTCTTCCTCGGTGTCCTTGA	NM_000295	NP_000286	94847444	P01009	A1AT_HUMAN	0		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	3	942	-	A	A		all_cancers(154;0.0649)|all_epithelial(191;0.223)	Silent	227						
SERPINA1	0	broad.mit.edu	GRCh37	14	94849557	94849557	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5952-01	TCGA-19-5952-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355814.4:c.18G>A	p.Ser6=	p.S6=	ENST00000355814	NM_001002235.2	6	tcG/tcA	0			1			T	S	uc001ycx.3	protein_coding		CCDS9925.1			18/1257									skin(1)	1	c.(16-18)TCG>TCA			Cleavage_site_(Signalp):SignalP-noTM,Superfamily_domains:SSF56574	serine proteinase inhibitor, clade A, member 1	Alpha-1-proteinase inhibitor(DB00058)			ENSP00000348068		5-Feb									COSM2156699	5-Feb	.	Alpha-1-Antitrypsin_Deficiency	ENST00000355814	Transcript	1		acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	ENSG00000197249	g.chr14:94849557C>T	8941			LOW								--	--	1																																		SERPINA1_uc001ycw.3_RNA|SERPINA1_uc010auw.2_Silent_p.S6S|SERPINA1_uc010aux.2_Silent_p.S6S|SERPINA1_uc001ycy.3_Silent_p.S6S|SERPINA1_uc010auy.2_Silent_p.S6S|SERPINA1_uc001ycz.3_Silent_p.S6S|SERPINA1_uc010auz.2_Silent_p.S6S|SERPINA1_uc010ava.2_Silent_p.S6S|SERPINA1_uc001ydb.3_Silent_p.S6S|SERPINA1_uc010avb.2_Silent_p.S6S|SERPINA1_uc001ydc.3_Silent_p.S6S|SERPINA1_uc001yda.1_Silent_p.S6S	1				p.S6S	NM_000295	NP_000286			1	A1AT_HUMAN	SERPINA1	HGNC	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Q3I0J7_HUMAN,G3V5R8_HUMAN,G3V544_HUMAN,G3V4I7_HUMAN,G3V387_HUMAN,G3V2B9_HUMAN,E9KL23_HUMAN,A6YP93_HUMAN		2	279	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	UPI000000CBEC	6					SNV	SERPINA1,synonymous_variant,p.=,ENST00000448921,NM_001127704.1,NM_001127701.1,NM_001127705.1,NM_001002236.2,NM_001127703.1;SERPINA1,synonymous_variant,p.=,ENST00000437397,NM_001127706.1,NM_001127707.1,NM_001127702.1;SERPINA1,synonymous_variant,p.=,ENST00000355814,NM_001002235.2,NM_001127700.1;SERPINA1,synonymous_variant,p.=,ENST00000440909,;SERPINA1,synonymous_variant,p.=,ENST00000393088,;SERPINA1,synonymous_variant,p.=,ENST00000404814,;SERPINA1,synonymous_variant,p.=,ENST00000393087,NM_000295.4;SERPINA1,synonymous_variant,p.=,ENST00000449399,;SERPINA1,synonymous_variant,p.=,ENST00000402629,;SERPINA1,synonymous_variant,p.=,ENST00000557492,;SERPINA1,synonymous_variant,p.=,ENST00000556091,;SERPINA1,synonymous_variant,p.=,ENST00000557118,;SERPINA1,synonymous_variant,p.=,ENST00000553327,;SERPINA1,synonymous_variant,p.=,ENST00000556955,;SERPINA1,intron_variant,,ENST00000554720,;SERPINA1,downstream_gene_variant,,ENST00000555289,;SERPINA1,synonymous_variant,p.=,ENST00000489769,;	uc001ycx.3	c.18G>A	295/3236	2	2			c.18G>A						14	SNP	c.(16-18)TCG>TCA	25	25			skin(1)	1	Broad	serine proteinase inhibitor, clade A, member 1		Alpha-1-proteinase inhibitor(DB00058)	94849557	Alpha-1-Antitrypsin_Deficiency	0.612	ENSG00000197249	13866	g.chr14:94849557C>T	acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity							35.681694	KEEP	4	11	-1	14	20	4	11	-1	37.314766	14	20	0.295455	1	0	0	0	0	0	0	1	0	--	--		0	T			SERPINA1_uc001ycw.3_RNA|SERPINA1_uc010auw.2_Silent_p.S6S|SERPINA1_uc010aux.2_Silent_p.S6S|SERPINA1_uc001ycy.3_Silent_p.S6S|SERPINA1_uc010auy.2_Silent_p.S6S|SERPINA1_uc001ycz.3_Silent_p.S6S|SERPINA1_uc010auz.2_Silent_p.S6S|SERPINA1_uc010ava.2_Silent_p.S6S|SERPINA1_uc001ydb.3_Silent_p.S6S|SERPINA1_uc010avb.2_Silent_p.S6S|SERPINA1_uc001ydc.3_Silent_p.S6S|SERPINA1_uc001yda.1_Silent_p.S6S	172	GBM-19-5952-TP	p.S6S	C	GGATGCCCCACGAGACAGAAG	NM_000295	NP_000286	94849557	P01009	A1AT_HUMAN	0		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	2	279	-	T	T		all_cancers(154;0.0649)|all_epithelial(191;0.223)	Silent	6						
SERPINA10	51156	broad.mit.edu	GRCh37	14	94756360	94756360	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01	TCGA-06-5415-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393096.1:c.571G>A	p.Val191Met	p.V191M	ENST00000393096	NM_016186.2	191	Gtg/Atg	0			1			T	V/M	uc001yct.2	protein_coding		CCDS9923.1			571/1335									ovary(2)|skin(1)	3	c.(571-573)GTG>ATG			Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF31,SMART_domains:SM00093,Superfamily_domains:SSF56574	serine (or cysteine) proteinase inhibitor, clade				ENSP00000261994		5-Feb	3.29E-05			0.000116		3.00E-05		6.06E-05	rs533103231,COSM3401542	5-Feb	.		ENST00000261994	Transcript			regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	ENSG00000140093	g.chr14:94756360C>T	15996			MODERATE		1.74	low	getma.org/?cm=msa&ty=f&p=ZPI_HUMAN&rb=77&re=441&var=V191M	getma.org/pdb.php?prot=ZPI_HUMAN&from=77&to=441&var=V191M	getma.org/?cm=var&var=hg19,14,94756360,C,T&fts=all	V191M	--	--	1																																		SERPINA10_uc001ycu.3_Missense_Mutation_p.V191M	0,1			probably_damaging(0.952)	p.V191M	NM_016186	NP_057270		tolerated(0.07)	0,1	ZPI_HUMAN	SERPINA10	HGNC	Q9UK55	ZPI_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)			2	1037	-		all_cancers(154;0.105)	UPI000013C46E	191					SNV	SERPINA10,missense_variant,p.Val231Met,ENST00000554723,;SERPINA10,missense_variant,p.Val191Met,ENST00000393096,NM_016186.2;SERPINA10,missense_variant,p.Val191Met,ENST00000261994,NM_001100607.2;SERPINA10,missense_variant,p.Val191Met,ENST00000554173,;	uc001yct.2	c.571G>A	704/2116	2	2			c.571G>A						14	SNP	c.(571-573)GTG>ATG	35	35			ovary(2)|skin(1)	3	Broad	serine (or cysteine) proteinase inhibitor, clade			94756360		0.418	ENSG00000140093	13867	g.chr14:94756360C>T	regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity							-20.390462	KEEP	2	5	-1	74	89	2	5	-1	13.586969	74	89	0.045455	1	0	0	0	0	1	0	0	0	--	--		0	T			SERPINA10_uc001ycu.3_Missense_Mutation_p.V191M	98	GBM-06-5415-TP	p.V191M	C	TTCATAGGCACGCACTCTGTA	NM_016186	NP_057270	94756360	Q9UK55	ZPI_HUMAN	0		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	2	1037	-	T	T		all_cancers(154;0.105)	Missense_Mutation	191						
SERPINA11	256394	broad.mit.edu	GRCh37	14	94914503	94914503	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0152-01	TCGA-06-0152-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334708.3:c.609G>A	p.Thr203=	p.T203=	ENST00000334708	NM_001080451.1	203	acG/acA	0			1			T	T	uc001ydd.1	protein_coding	YES	CCDS32149.1			609/1269									kidney(1)	1	c.(607-609)ACG>ACA			Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF154,SMART_domains:SM00093,Superfamily_domains:SSF56574	serpin peptidase inhibitor, clade A (alpha-1				ENSP00000335024		5-Feb	1.65E-05					3.00E-05			rs757990411,COSM2149892	5-Feb	.		ENST00000334708	Transcript			regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	ENSG00000186910	g.chr14:94914503C>T	19193			LOW								--	--	1																																			0,1	1			p.T203T	NM_001080451	NP_001073920			0,1	SPA11_HUMAN	SERPINA11	HGNC	Q86U17	SPA11_HUMAN		COAD - Colon adenocarcinoma(157;0.211)			2	669	-			UPI000015DA3A	203					SNV	SERPINA11,synonymous_variant,p.=,ENST00000334708,NM_001080451.1;RP11-349I1.2,intron_variant,,ENST00000536735,;	uc001ydd.1	c.609G>A	674/1476	2	2			c.609G>A						14	SNP	c.(607-609)ACG>ACA	45	45			kidney(1)	1	Broad	serpin peptidase inhibitor, clade A (alpha-1			94914503		0.473	ENSG00000186910	13868	g.chr14:94914503C>T	regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity							217.588309	KEEP	42	41	-1	67	74	42	41	-1	220.136249	67	74	0.378788	1	0	0	0	0	0	0	1	0	--	--		0	T				25	GBM-06-0152-TP	p.T203T	C	GAACCATGAACGTGTCCTGGC	NM_001080451	NP_001073920	94914503	Q86U17	SPA11_HUMAN	0		COAD - Colon adenocarcinoma(157;0.211)	2	669	-	T	T			Silent	203						
SERPINA11	0	broad.mit.edu	GRCh37	14	94912764	94912764	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01	TCGA-12-0618-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334708.3:c.821C>T	p.Ala274Val	p.A274V	ENST00000334708	NM_001080451.1	274	gCg/gTg	0		A:0	1	A:0		A	A/V	uc001ydd.1	protein_coding	YES	CCDS32149.1			821/1269									kidney(1)	1	c.(820-822)GCG>GTG			Gene3D:2.30.39.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF154,SMART_domains:SM00093,Superfamily_domains:SSF56574	serpin peptidase inhibitor, clade A (alpha-1		A:0		ENSP00000335024	A:0	5-Mar	3.29E-05		8.64E-05					0.000182	rs563316230,COSM2153586	5-Mar	.		ENST00000334708	Transcript		A:0.0002	regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	ENSG00000186910	g.chr14:94912764G>A	19193			MODERATE		2.415	medium	getma.org/?cm=msa&ty=f&p=SPA11_HUMAN&rb=52&re=419&var=A274V	getma.org/pdb.php?prot=SPA11_HUMAN&from=52&to=419&var=A274V	getma.org/?cm=var&var=hg19,14,94912764,G,A&fts=all	A274V	--	--	1																																			0,1	1		benign(0.01)	p.A274V	NM_001080451	NP_001073920	A:0.001	tolerated(0.28)	0,1	SPA11_HUMAN	SERPINA11	HGNC	Q86U17	SPA11_HUMAN		COAD - Colon adenocarcinoma(157;0.211)			3	881	-			UPI000015DA3A	274					SNV	SERPINA11,missense_variant,p.Ala274Val,ENST00000334708,NM_001080451.1;RP11-349I1.2,intron_variant,,ENST00000536735,;	uc001ydd.1	c.821C>T	886/1476	1	1			c.821C>T						14	SNP	c.(820-822)GCG>GTG	54	54			kidney(1)	1	Broad	serpin peptidase inhibitor, clade A (alpha-1			94912764		0.547	ENSG00000186910	13868	g.chr14:94912764G>A	regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity							369.761687	KEEP	76	62	-1	81	84	76	62	-1	370.299074	81	84	0.452555	1	0	0	0	0	1	0	0	0	--	--		0	A				119	GBM-12-0618-TP	p.A274V	G	GACCAGCAGCGCCAAGGCATT	NM_001080451	NP_001073920	94912764	Q86U17	SPA11_HUMAN	0		COAD - Colon adenocarcinoma(157;0.211)	3	881	-	A	A			Missense_Mutation	274						
SERPINA11	0	broad.mit.edu	GRCh37	14	94909543	94909543	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334708.3:c.937C>T	p.Pro313Ser	p.P313S	ENST00000334708	NM_001080451.1	313	Cca/Tca	0			1			A	P/S	uc001ydd.1	protein_coding	YES	CCDS32149.1			937/1269									kidney(1)	1	c.(937-939)CCA>TCA			Gene3D:2.30.39.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF154,SMART_domains:SM00093,Superfamily_domains:SSF56574	serpin peptidase inhibitor, clade A (alpha-1				ENSP00000335024		5-Apr									COSM3401546	5-Apr	.		ENST00000334708	Transcript			regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	ENSG00000186910	g.chr14:94909543G>A	19193			MODERATE		3.69	high	getma.org/?cm=msa&ty=f&p=SPA11_HUMAN&rb=52&re=419&var=P313S	getma.org/pdb.php?prot=SPA11_HUMAN&from=52&to=419&var=P313S	getma.org/?cm=var&var=hg19,14,94909543,G,A&fts=all	P313S	--	--	1																																			1	1		probably_damaging(1)	p.P313S	NM_001080451	NP_001073920		deleterious(0)	1	SPA11_HUMAN	SERPINA11	HGNC	Q86U17	SPA11_HUMAN		COAD - Colon adenocarcinoma(157;0.211)			4	997	-			UPI000015DA3A	313					SNV	SERPINA11,missense_variant,p.Pro313Ser,ENST00000334708,NM_001080451.1;RP11-349I1.2,intron_variant,,ENST00000536735,;	uc001ydd.1	c.937C>T	1002/1476	2	2			c.937C>T						14	SNP	c.(937-939)CCA>TCA	29	29			kidney(1)	1	Broad	serpin peptidase inhibitor, clade A (alpha-1			94909543		0.458	ENSG00000186910	13868	g.chr14:94909543G>A	regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity							115.300455	KEEP	18	22	-1	34	29	18	22	-1	116.194513	34	29	0.397959	1	0	0	0	0	1	0	0	0	--	--		0	A				125	GBM-12-3649-TP	p.P313S	G	GAAAACCTTGGCAAGTGCAAA	NM_001080451	NP_001073920	94909543	Q86U17	SPA11_HUMAN	0		COAD - Colon adenocarcinoma(157;0.211)	4	997	-	A	A			Missense_Mutation	313						
SERPINA11	256394		GRCh37	14	94912695	94912695	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000334708.3:c.890G>C	p.Arg297Thr	p.R297T	ENST00000334708	NM_001080451.1	297	aGa/aCa	0																																																																																																																																																																																																																																												
SERPINA12	145264	broad.mit.edu	GRCh37	14	94953819	94953819	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0132-01	TCGA-06-0132-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341228.2:c.1066G>A	p.Ala356Thr	p.A356T	ENST00000341228	NM_173850.2	356	Gct/Act	0			1			T	A/T	uc001ydj.2	protein_coding	YES	CCDS9926.1			1066/1245									central_nervous_system(2)|ovary(1)|lung(1)	4	c.(1066-1068)GCT>ACT			Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF149,SMART_domains:SM00093,Superfamily_domains:SSF56574	serine (or cysteine) proteinase inhibitor, clade				ENSP00000342109		6-Jun									COSM3401552	6-Jun	.		ENST00000341228	Transcript			regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	ENSG00000165953	g.chr14:94953819C>T	18359			MODERATE		2.58	medium	getma.org/?cm=msa&ty=f&p=SPA12_HUMAN&rb=50&re=411&var=A356T	getma.org/pdb.php?prot=SPA12_HUMAN&from=50&to=411&var=A356T	getma.org/?cm=var&var=hg19,14,94953819,C,T&fts=all	A356T	--	--	1																																			1	1		probably_damaging(1)	p.A356T	NM_173850	NP_776249		deleterious(0)	1	SPA12_HUMAN	SERPINA12	HGNC	Q8IW75	SPA12_HUMAN		COAD - Colon adenocarcinoma(157;0.235)			6	1862	-			UPI000000D86C	356					SNV	SERPINA12,missense_variant,p.Ala356Thr,ENST00000341228,NM_173850.2;SERPINA12,missense_variant,p.Ala356Thr,ENST00000556881,;	uc001ydj.2	c.1066G>A	1862/2061	2	2			c.1066G>A						14	SNP	c.(1066-1068)GCT>ACT	22	22			central_nervous_system(2)|ovary(1)|lung(1)	4	Broad	serine (or cysteine) proteinase inhibitor, clade			94953819		0.597	ENSG00000165953	13869	g.chr14:94953819C>T	regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			148			148	33.919617	KEEP	5	15	-1	49	46	5	15	-1	43.134063	49	46	0.178947	1	0	0	0	0	1	0	0	0	--	--		0	T				17	GBM-06-0132-TP	p.A356T	C	TTCAGCTCAGCCTTGTGCACA	NM_173850	NP_776249	94953819	Q8IW75	SPA12_HUMAN	0		COAD - Colon adenocarcinoma(157;0.235)	6	1862	-	T	T			Missense_Mutation	356						
SERPINA12	0	broad.mit.edu	GRCh37	14	94953697	94953697	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-5651-01	TCGA-41-5651-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341228.2:c.1188C>T	p.Ser396=	p.S396=	ENST00000341228	NM_173850.2	396	agC/agT	0			1			A	S	uc001ydj.2	protein_coding	YES	CCDS9926.1			1188/1245									central_nervous_system(2)|ovary(1)|lung(1)	4	c.(1186-1188)AGC>AGT			Gene3D:2.30.39.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF149,SMART_domains:SM00093,Superfamily_domains:SSF56574	serine (or cysteine) proteinase inhibitor, clade				ENSP00000342109		6-Jun									COSM2253438	6-Jun	.		ENST00000341228	Transcript			regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	ENSG00000165953	g.chr14:94953697G>A	18359			LOW								--	--	1																																			1	1			p.S396S	NM_173850	NP_776249			1	SPA12_HUMAN	SERPINA12	HGNC	Q8IW75	SPA12_HUMAN		COAD - Colon adenocarcinoma(157;0.235)			6	1984	-			UPI000000D86C	396					SNV	SERPINA12,synonymous_variant,p.=,ENST00000341228,NM_173850.2;SERPINA12,synonymous_variant,p.=,ENST00000556881,;	uc001ydj.2	c.1188C>T	1984/2061	1	1			c.1188C>T						14	SNP	c.(1186-1188)AGC>AGT	52	52			central_nervous_system(2)|ovary(1)|lung(1)	4	Broad	serine (or cysteine) proteinase inhibitor, clade			94953697		0.527	ENSG00000165953	13869	g.chr14:94953697G>A	regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity		p.S396S(SKUT1-Tumor)	148		p.S396S(SKUT1-Tumor)	148	210.461601	KEEP	31	42	-1	24	29	31	42	-1	211.080937	24	29	0.578947	1	0	0	0	0	0	0	1	0	--	--		0	A				258	GBM-41-5651-TP	p.S396S	G	GTATTTTCTCGCTGTAAATCA	NM_173850	NP_776249	94953697	Q8IW75	SPA12_HUMAN	0		COAD - Colon adenocarcinoma(157;0.235)	6	1984	-	A	A			Silent	396						
SERPINA3	12	broad.mit.edu	GRCh37	14	95080911	95080911	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000467132.1:c.133G>A	p.Val45Met	p.V45M	ENST00000467132		45	Gtg/Atg	0			1			A	V/M	uc001ydp.2	protein_coding		CCDS32150.1			133/1272								p.V45M(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6	c.(133-135)GTG>ATG			hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF145,Superfamily_domains:SSF56574	serpin peptidase inhibitor, clade A, member 3				ENSP00000376795		5-Feb	4.12E-05	9.61E-05				3.00E-05		0.000121	rs752346883,COSM35352,COSM3401556	5-Feb	.		ENST00000393080	Transcript	1		acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	ENSG00000196136	g.chr14:95080911G>A	16			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=AACT_HUMAN&rb=1&re=50&var=V45M	NA	getma.org/?cm=var&var=hg19,14,95080911,G,A&fts=all	V45M	--	--	1																																		SERPINA3_uc001ydo.3_Missense_Mutation_p.V70M|SERPINA3_uc010avf.1_RNA|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Missense_Mutation_p.V45M|SERPINA3_uc001yds.2_Missense_Mutation_p.V45M|SERPINA3_uc010avg.2_Missense_Mutation_p.V45M	0,1,1			possibly_damaging(0.714)	p.V45M	NM_001085	NP_001076		tolerated(0.08)	0,1,1	AACT_HUMAN	SERPINA3	HGNC	P01011	AACT_HUMAN		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)	G3V5I3_HUMAN,G3V3A0_HUMAN		2	212	+		all_cancers(154;0.0525)|all_epithelial(191;0.179)	UPI000012509B	45					SNV	SERPINA3,missense_variant,p.Val45Met,ENST00000467132,;SERPINA3,missense_variant,p.Val45Met,ENST00000393078,NM_001085.4;SERPINA3,missense_variant,p.Val45Met,ENST00000393080,;SERPINA3,upstream_gene_variant,,ENST00000482740,;SERPINA3,intron_variant,,ENST00000556388,;SERPINA3,downstream_gene_variant,,ENST00000485588,;SERPINA3,missense_variant,p.Val45Met,ENST00000556968,;RP11-986E7.7,3_prime_UTR_variant,,ENST00000553947,;SERPINA3,3_prime_UTR_variant,,ENST00000555820,;	uc001ydp.2	c.133G>A	201/1581	2	2			c.133G>A						14	SNP	c.(133-135)GTG>ATG	35	35		p.V45M(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6	Broad	serpin peptidase inhibitor, clade A, member 3			95080911		0.572	ENSG00000196136	13870	g.chr14:95080911G>A	acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity							112.872224	KEEP	24	30	-1	91	78	24	30	-1	124.565854	91	78	0.240838	1	0	0	0	0	1	0	0	0	--	--		0	A			SERPINA3_uc001ydo.3_Missense_Mutation_p.V70M|SERPINA3_uc010avf.1_RNA|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Missense_Mutation_p.V45M|SERPINA3_uc001yds.2_Missense_Mutation_p.V45M|SERPINA3_uc010avg.2_Missense_Mutation_p.V45M	46	GBM-06-0209-TP	p.V45M	G	AGGGACACACGTGGACCTCGG	NM_001085	NP_001076	95080911	P01011	AACT_HUMAN	0		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)	2	212	+	A	A		all_cancers(154;0.0525)|all_epithelial(191;0.179)	Missense_Mutation	45						
SERPINA4	0	broad.mit.edu	GRCh37	14	95033524	95033524	+	synonymous_variant	Silent	SNP	T	T	A			TCGA-32-2634-01	TCGA-32-2634-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298841.5:c.867T>A	p.Ile289=	p.I289=	ENST00000298841	NM_006215.2	289	atT/atA	0			1			A	I	uc001ydk.2	protein_coding		CCDS9927.1			867/1284									ovary(3)|skin(1)	4	c.(865-867)ATT>ATA			Gene3D:2.30.39.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF157,SMART_domains:SM00093,Superfamily_domains:SSF56574	serine (or cysteine) proteinase inhibitor, clade				ENSP00000298841		5-Mar									COSM3401553	5-Mar	.		ENST00000298841	Transcript			regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	ENSG00000100665	g.chr14:95033524T>A	8948			LOW								--	--	1																																		SERPINA4_uc010avd.2_Silent_p.I326I|SERPINA4_uc001ydl.2_Silent_p.I289I	1				p.I289I	NM_006215	NP_006206			1	KAIN_HUMAN	SERPINA4	HGNC	P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)			3	933	+			UPI000000CBEF	289					SNV	SERPINA4,synonymous_variant,p.=,ENST00000557004,;SERPINA4,synonymous_variant,p.=,ENST00000555095,;SERPINA4,synonymous_variant,p.=,ENST00000298841,NM_006215.2;SERPINA5,intron_variant,,ENST00000553780,;SERPINA5,intron_variant,,ENST00000554220,;	uc001ydk.2	c.867T>A	1092/1784	1	1			c.867T>A						14	SNP	c.(865-867)ATT>ATA	59	59			ovary(3)|skin(1)	4	Broad	serine (or cysteine) proteinase inhibitor, clade			95033524		0.468	ENSG00000100665	13871	g.chr14:95033524T>A	regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity							101.022459	KEEP	11	24	-1	32	41	11	24	-1	102.821992	32	41	0.354167	1	0	0	0	0	0	0	1	0	--	--		0	A			SERPINA4_uc010avd.2_Silent_p.I326I|SERPINA4_uc001ydl.2_Silent_p.I289I	241	GBM-32-2634-TP	p.I289I	T	TGAGGGAGATTGAAGAGGTTC	NM_006215	NP_006206	95033524	P29622	KAIN_HUMAN	0		COAD - Colon adenocarcinoma(157;0.211)	3	933	+	A	A			Silent	289						
SERPINA5	5104	broad.mit.edu	GRCh37	14	95054156	95054156	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-2558-01	TCGA-06-2558-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329597.7:c.457T>C	p.Tyr153His	p.Y153H	ENST00000329597	NM_000624.5	153	Tac/Cac	0			1			C	Y/H	uc001ydm.2	protein_coding	YES	CCDS9928.1			457/1221									ovary(2)	2	c.(457-459)TAC>CAC			Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF41,SMART_domains:SM00093,Superfamily_domains:SSF56574	serine (or cysteine) proteinase inhibitor, clade	Drotrecogin alfa(DB00055)|Urokinase(DB00013)			ENSP00000333203		6-Mar									COSM3401554	6-Mar	.		ENST00000329597	Transcript			fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	ENSG00000188488	g.chr14:95054156T>C	8723			MODERATE		3.345	medium	getma.org/?cm=msa&ty=f&p=IPSP_HUMAN&rb=43&re=406&var=Y153H	getma.org/pdb.php?prot=IPSP_HUMAN&from=43&to=406&var=Y153H	getma.org/?cm=var&var=hg19,14,95054156,T,C&fts=all	Y153H	--	--	1																																		SERPINA5_uc010ave.2_Missense_Mutation_p.Y153H|SERPINA5_uc001ydn.1_Missense_Mutation_p.Y153H	1	1		probably_damaging(1)	p.Y153H	NM_000624	NP_000615		deleterious(0)	1	IPSP_HUMAN	SERPINA5	HGNC	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	G3V4B4_HUMAN,G3V482_HUMAN,G3V3Y3_HUMAN,G3V3F5_HUMAN,G3V2M1_HUMAN,G3V265_HUMAN,G3V264_HUMAN		3	667	+			UPI000013E52C	153					SNV	SERPINA5,missense_variant,p.Tyr153His,ENST00000329597,NM_000624.5;SERPINA5,missense_variant,p.Tyr153His,ENST00000554866,;SERPINA5,missense_variant,p.Tyr153His,ENST00000554276,;SERPINA5,missense_variant,p.Tyr153His,ENST00000553780,;SERPINA5,missense_variant,p.Tyr153His,ENST00000554760,;SERPINA5,missense_variant,p.Tyr153His,ENST00000556775,;SERPINA5,missense_variant,p.Tyr153His,ENST00000557598,;SERPINA5,missense_variant,p.Tyr153His,ENST00000554220,;SERPINA5,downstream_gene_variant,,ENST00000555681,;SERPINA5,downstream_gene_variant,,ENST00000553511,;SERPINA5,downstream_gene_variant,,ENST00000554633,;SERPINA5,downstream_gene_variant,,ENST00000556064,;SERPINA5,non_coding_transcript_exon_variant,,ENST00000556730,;RP11-986E7.7,upstream_gene_variant,,ENST00000553947,;	uc001ydm.2	c.457T>C	667/2312	3	3			c.457T>C						14	SNP	c.(457-459)TAC>CAC	52	52			ovary(2)	2	Broad	serine (or cysteine) proteinase inhibitor, clade		Drotrecogin alfa(DB00055)|Urokinase(DB00013)	95054156		0.537	ENSG00000188488	13872	g.chr14:95054156T>C	fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity							1.292772	KEEP	4	5	-1	50	57	4	5	-1	21.667442	50	57	0.079646	1	0	0	0	0	1	0	0	0	--	--		0	C			SERPINA5_uc010ave.2_Missense_Mutation_p.Y153H|SERPINA5_uc001ydn.1_Missense_Mutation_p.Y153H	82	GBM-06-2558-TP	p.Y153H	T	GAAGACGCTGTACCTGGCAGA	NM_000624	NP_000615	95054156	P05154	IPSP_HUMAN	0		COAD - Colon adenocarcinoma(157;0.21)	3	667	+	C	C			Missense_Mutation	153						
SERPINA5	5104	broad.mit.edu	GRCh37	14	95058444	95058444	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329597.7:c.1089G>A	p.Ala363=	p.A363=	ENST00000329597	NM_000624.5	363	gcG/gcA	0			1			A	A	uc001ydm.2	protein_coding	YES	CCDS9928.1			1089/1221									ovary(2)	2	c.(1087-1089)GCG>GCA			Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF41,SMART_domains:SM00093,Superfamily_domains:SSF56574	serine (or cysteine) proteinase inhibitor, clade	Drotrecogin alfa(DB00055)|Urokinase(DB00013)			ENSP00000333203		6-Jun	1.65E-05					3.00E-05			rs749307094,COSM3401555	6-Jun	.		ENST00000329597	Transcript			fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	ENSG00000188488	g.chr14:95058444G>A	8723			LOW								--	--	1																																		SERPINA3_uc001ydo.3_5'UTR	0,1	1			p.A363A	NM_000624	NP_000615			0,1	IPSP_HUMAN	SERPINA5	HGNC	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	G3V4B4_HUMAN,G3V482_HUMAN,G3V3Y3_HUMAN,G3V3F5_HUMAN,G3V2M1_HUMAN,G3V265_HUMAN,G3V264_HUMAN		6	1299	+			UPI000013E52C	363					SNV	SERPINA5,synonymous_variant,p.=,ENST00000329597,NM_000624.5;SERPINA5,synonymous_variant,p.=,ENST00000554866,;SERPINA5,synonymous_variant,p.=,ENST00000554276,;SERPINA5,synonymous_variant,p.=,ENST00000553780,;SERPINA5,downstream_gene_variant,,ENST00000554760,;SERPINA5,downstream_gene_variant,,ENST00000556775,;SERPINA5,downstream_gene_variant,,ENST00000555681,;SERPINA5,downstream_gene_variant,,ENST00000557598,;SERPINA5,downstream_gene_variant,,ENST00000554220,;SERPINA5,downstream_gene_variant,,ENST00000553511,;SERPINA5,downstream_gene_variant,,ENST00000554633,;SERPINA5,downstream_gene_variant,,ENST00000556064,;RP11-986E7.7,synonymous_variant,p.=,ENST00000553947,;SERPINA5,downstream_gene_variant,,ENST00000556730,;	uc001ydm.2	c.1089G>A	1299/2312	1	1			c.1089G>A						14	SNP	c.(1087-1089)GCG>GCA	59	59			ovary(2)	2	Broad	serine (or cysteine) proteinase inhibitor, clade		Drotrecogin alfa(DB00055)|Urokinase(DB00013)	95058444		0.567	ENSG00000188488	13872	g.chr14:95058444G>A	fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity							990.3252	KEEP	155	173	-1	61	52	155	173	-1	1010.651699	61	52	0.738035	1	0	0	0	0	0	0	1	0	--	--		0	A			SERPINA3_uc001ydo.3_5'UTR	102	GBM-06-5858-TP	p.A363A	G	CCAGAGCAGCGGCAGCCACGG	NM_000624	NP_000615	95058444	P05154	IPSP_HUMAN	0		COAD - Colon adenocarcinoma(157;0.21)	6	1299	+	A	A			Silent	363						
SERPINA6	866	broad.mit.edu	GRCh37	14	94780400	94780400	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0648-01	TCGA-06-0648-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341584.3:c.586G>A	p.Val196Ile	p.V196I	ENST00000341584	NM_001756.3	196	Gtc/Atc	0			1			T	V/I	uc001ycv.2	protein_coding	YES	CCDS9924.1			586/1218									skin(3)|ovary(1)|central_nervous_system(1)	5	c.(586-588)GTC>ATC			Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF34,SMART_domains:SM00093,Superfamily_domains:SSF56574	corticosteroid binding globulin precursor	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)			ENSP00000342850		5-Feb	8.24E-06	9.61E-05							rs747671539,COSM2151408,COSM2151407	5-Feb	.		ENST00000341584	Transcript	1		regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	ENSG00000170099	g.chr14:94780400C>T	1540			MODERATE		-0.11	neutral	getma.org/?cm=msa&ty=f&p=CBG_HUMAN&rb=41&re=404&var=V196I	getma.org/pdb.php?prot=CBG_HUMAN&from=41&to=404&var=V196I	getma.org/?cm=var&var=hg19,14,94780400,C,T&fts=all	V196I	--	--	1																																		SERPINA6_uc010auv.2_RNA	0,1,1	1		benign(0.001)	p.V196I	NM_001756	NP_001747		tolerated(1)	0,1,1	CBG_HUMAN	SERPINA6	HGNC	P08185	CBG_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	G3V4V7_HUMAN		2	690	-		all_cancers(154;0.0482)|all_epithelial(191;0.166)	UPI0000127182	196					SNV	SERPINA6,missense_variant,p.Val196Ile,ENST00000341584,NM_001756.3;SERPINA6,downstream_gene_variant,,ENST00000557225,;SERPINA6,missense_variant,p.Val196Ile,ENST00000555056,;	uc001ycv.2	c.586G>A	733/1534	2	2			c.586G>A						14	SNP	c.(586-588)GTC>ATC	29	29			skin(3)|ovary(1)|central_nervous_system(1)	5	Broad	corticosteroid binding globulin precursor		Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	94780400		0.502	ENSG00000170099	13873	g.chr14:94780400C>T	regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding							165.509428	KEEP	25	34	-1	39	40	25	34	-1	166.116912	39	40	0.426357	1	0	0	0	0	1	0	0	0	--	--		0	T			SERPINA6_uc010auv.2_RNA	61	GBM-06-0648-TP	p.V196I	C	TTGACCAGGACGAGGATGGCT	NM_001756	NP_001747	94780400	P08185	CBG_HUMAN	0		COAD - Colon adenocarcinoma(157;0.211)	2	690	-	T	T		all_cancers(154;0.0482)|all_epithelial(191;0.166)	Missense_Mutation	196						
SERPINA9	0	broad.mit.edu	GRCh37	14	94935885	94935885	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-2491-01	TCGA-32-2491-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380365.3:c.293T>C	p.Leu98Pro	p.L98P	ENST00000380365		98	cTg/cCg	0			1			G	L/P	uc001ydf.2	protein_coding					293/1254									lung(1)|central_nervous_system(1)	2	c.(346-348)CTG>CCG			Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF40,SMART_domains:SM00093,Superfamily_domains:SSF56574	serine (or cysteine) proteinase inhibitor, clade				ENSP00000369723		5-Feb									COSM3401550,COSM3401549,COSM3401551	5-Feb	.		ENST00000380365	Transcript			regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	ENSG00000170054	g.chr14:94935885A>G	15995			MODERATE		3.8	high	getma.org/?cm=msa&ty=f&p=SPA9_HUMAN&rb=46&re=414&var=L98P	getma.org/pdb.php?prot=SPA9_HUMAN&from=46&to=414&var=L98P	getma.org/?cm=var&var=hg19,14,94935885,A,G&fts=all	L98P	--	--	1																																		SERPINA9_uc001yde.2_Intron|SERPINA9_uc010avc.2_Intron|SERPINA9_uc001ydg.2_Missense_Mutation_p.L80P|SERPINA9_uc001ydh.1_Missense_Mutation_p.L116P|SERPINA9_uc001ydi.1_Missense_Mutation_p.L80P	1,1,1			probably_damaging(0.993)	p.L116P	NM_175739	NP_783866		deleterious(0)	1,1,1	SPA9_HUMAN	SERPINA9	HGNC	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)			2	508	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	UPI000003B052	98					SNV	SERPINA9,missense_variant,p.Leu116Pro,ENST00000337425,NM_175739.3;SERPINA9,missense_variant,p.Leu18Pro,ENST00000448305,NM_001284275.1;SERPINA9,missense_variant,p.Leu98Pro,ENST00000380365,;SERPINA9,missense_variant,p.Leu80Pro,ENST00000546329,;SERPINA9,intron_variant,,ENST00000424550,NM_001284276.1;SERPINA9,intron_variant,,ENST00000298845,NM_001042518.1;RP11-349I1.2,downstream_gene_variant,,ENST00000536735,;SERPINA9,downstream_gene_variant,,ENST00000539349,;SERPINA9,synonymous_variant,p.=,ENST00000538527,;	uc001ydf.2	c.347T>C	372/1333	3	3			c.347T>C						14	SNP	c.(346-348)CTG>CCG	50	50			lung(1)|central_nervous_system(1)	2	Broad	serine (or cysteine) proteinase inhibitor, clade			94935885		0.567	ENSG00000170054	13875	g.chr14:94935885A>G	regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity							-27.286977	KEEP	2	1	-1	72	75	2	1	-1	6.506593	72	75	0.022556	1	0	0	0	0	1	0	0	0	--	--		0	G			SERPINA9_uc001yde.2_Intron|SERPINA9_uc010avc.2_Intron|SERPINA9_uc001ydg.2_Missense_Mutation_p.L80P|SERPINA9_uc001ydh.1_Missense_Mutation_p.L116P|SERPINA9_uc001ydi.1_Missense_Mutation_p.L80P	235	GBM-32-2491-TP	p.L116P	A	GTTGAAGCCCAGGCCCTGGAG	NM_175739	NP_783866	94935885	Q86WD7	SPA9_HUMAN	0		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	2	508	-	G	G		all_cancers(154;0.0691)|all_epithelial(191;0.233)	Missense_Mutation	98						
SERPINA9	0	broad.mit.edu	GRCh37	14	94933658	94933658	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2638-01	TCGA-32-2638-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380365.3:c.690C>T	p.Gly230=	p.G230=	ENST00000380365		230	ggC/ggT	0			1			A	G	uc001ydf.2	protein_coding					690/1254									lung(1)|central_nervous_system(1)	2	c.(742-744)GGC>GGT			Gene3D:2.30.39.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF40,SMART_domains:SM00093,Superfamily_domains:SSF56574	serine (or cysteine) proteinase inhibitor, clade				ENSP00000369723		5-Mar	3.31E-05					6.00E-05			rs756763583,COSM1317826,COSM1317825,COSM3401548	5-Mar	.		ENST00000380365	Transcript			regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	ENSG00000170054	g.chr14:94933658G>A	15995			LOW								--	--	1																																		SERPINA9_uc001yde.2_Silent_p.G148G|SERPINA9_uc010avc.2_Silent_p.G99G|SERPINA9_uc001ydg.2_Silent_p.G212G|SERPINA9_uc001ydh.1_Silent_p.G248G|SERPINA9_uc001ydi.1_Silent_p.G212G	0,1,1,1				p.G248G	NM_175739	NP_783866			0,1,1,1	SPA9_HUMAN	SERPINA9	HGNC	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)			3	905	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	UPI000003B052	230					SNV	SERPINA9,synonymous_variant,p.=,ENST00000337425,NM_175739.3;SERPINA9,synonymous_variant,p.=,ENST00000448305,NM_001284275.1;SERPINA9,synonymous_variant,p.=,ENST00000424550,NM_001284276.1;SERPINA9,synonymous_variant,p.=,ENST00000298845,NM_001042518.1;SERPINA9,synonymous_variant,p.=,ENST00000380365,;SERPINA9,synonymous_variant,p.=,ENST00000546329,;RP11-349I1.2,downstream_gene_variant,,ENST00000536735,;SERPINA9,downstream_gene_variant,,ENST00000539349,;SERPINA9,3_prime_UTR_variant,,ENST00000538527,;	uc001ydf.2	c.744C>T	769/1333	2	2			c.744C>T						14	SNP	c.(742-744)GGC>GGT	17	17			lung(1)|central_nervous_system(1)	2	Broad	serine (or cysteine) proteinase inhibitor, clade			94933658		0.473	ENSG00000170054	13875	g.chr14:94933658G>A	regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity							95.627742	KEEP	16	18	-1	26	9	16	18	-1	95.657221	26	9	0.476923	1	0	0	0	0	0	0	1	0	--	--		0	A			SERPINA9_uc001yde.2_Silent_p.G148G|SERPINA9_uc010avc.2_Silent_p.G99G|SERPINA9_uc001ydg.2_Silent_p.G212G|SERPINA9_uc001ydh.1_Silent_p.G248G|SERPINA9_uc001ydi.1_Silent_p.G212G	242	GBM-32-2638-TP	p.G248G	G	TGACCTGCTCGCCCACCAGGA	NM_175739	NP_783866	94933658	Q86WD7	SPA9_HUMAN	0		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	3	905	-	A	A		all_cancers(154;0.0691)|all_epithelial(191;0.233)	Silent	230						
SERPINB10	0	broad.mit.edu	GRCh37	18	61585273	61585273	+	synonymous_variant	Silent	SNP	C	C	T	rs61761878	byFrequency	TCGA-27-2528-01	TCGA-27-2528-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000238508.3:c.309C>T	p.Asn103=	p.N103=	ENST00000238508	NM_005024.1	103	aaC/aaT	0	T:0.0032	T:0.0045	1	T:0.0029		T	N	uc010xev.1	protein_coding	YES	CCDS11990.1			309/1194									lung(1)|kidney(1)|skin(1)	3	c.(307-309)AAC>AAT			hmmpanther:PTHR11461:SF136,hmmpanther:PTHR11461,Gene3D:3.30.497.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574	serine (or cysteine) proteinase inhibitor, clade		T:0	T:0	ENSP00000238508	T:0	8-Apr	0.000494	0.00356	0.00106			0.00012	0.00111	6.07E-05	rs61761878,COSM3403613	8-Apr	common_variant		ENST00000238508	Transcript		T:0.0016		cytoplasm|nucleus	serine-type endopeptidase inhibitor activity	ENSG00000242550	g.chr18:61585273C>T	8942			LOW								--	--	1																																		SERPINB10_uc010xew.1_Silent_p.N103N	0,1	1			p.N103N	NM_005024	NP_005015	T:0		0,1	SPB10_HUMAN	SERPINB10	HGNC	P48595	SPB10_HUMAN					4	399	+		Esophageal squamous(42;0.131)	UPI000013558E	103					SNV	SERPINB10,synonymous_variant,p.=,ENST00000238508,NM_005024.1;SERPINB10,downstream_gene_variant,,ENST00000397996,;SERPINB10,downstream_gene_variant,,ENST00000418725,;	uc010xev.1	c.309C>T	368/2122	1	1			c.309C>T						18	SNP	c.(307-309)AAC>AAT	7	7			lung(1)|kidney(1)|skin(1)	3	Broad	serine (or cysteine) proteinase inhibitor, clade			61585273		0.353	ENSG00000242550	13877	g.chr18:61585273C>T		cytoplasm|nucleus	serine-type endopeptidase inhibitor activity							152.754832	KEEP	24	27	-1	29	25	24	27	-1	152.773257	29	25	0.485437	1	0	0	0	0	0	0	1	0	--	--		0	T			SERPINB10_uc010xew.1_Silent_p.N103N	205	GBM-27-2528-TP	p.N103N	C	TCAAGCCCAACGATGACTACT	NM_005024	NP_005015	61585273	P48595	SPB10_HUMAN	0			4	399	+	T	T		Esophageal squamous(42;0.131)	Silent	103						
SERPINB10	0	broad.mit.edu	GRCh37	18	61585321	61585321	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2494-01	TCGA-32-2494-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000238508.3:c.357G>A	p.Thr119=	p.T119=	ENST00000238508	NM_005024.1	119	acG/acA	0		A:0	1	A:0		A	T	uc010xev.1	protein_coding	YES	CCDS11990.1			357/1194								p.T119T(1)	lung(1)|kidney(1)|skin(1)	3	c.(355-357)ACG>ACA			hmmpanther:PTHR11461:SF136,hmmpanther:PTHR11461,Gene3D:3.30.497.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574	serine (or cysteine) proteinase inhibitor, clade		A:0		ENSP00000238508	A:0.002	8-Apr	5.77E-05					0.000105			rs201911253,COSM25711	8-Apr	.		ENST00000238508	Transcript		A:0.0004		cytoplasm|nucleus	serine-type endopeptidase inhibitor activity	ENSG00000242550	g.chr18:61585321G>A	8942			LOW								--	--	1																																		SERPINB10_uc010xew.1_Silent_p.T119T	0,1	1			p.T119T	NM_005024	NP_005015	A:0		0,1	SPB10_HUMAN	SERPINB10	HGNC	P48595	SPB10_HUMAN					4	447	+		Esophageal squamous(42;0.131)	UPI000013558E	119					SNV	SERPINB10,synonymous_variant,p.=,ENST00000238508,NM_005024.1;SERPINB10,downstream_gene_variant,,ENST00000397996,;SERPINB10,downstream_gene_variant,,ENST00000418725,;	uc010xev.1	c.357G>A	416/2122	1	1			c.357G>A						18	SNP	c.(355-357)ACG>ACA	64	64		p.T119T(1)	lung(1)|kidney(1)|skin(1)	3	Broad	serine (or cysteine) proteinase inhibitor, clade			61585321		0.348	ENSG00000242550	13877	g.chr18:61585321G>A		cytoplasm|nucleus	serine-type endopeptidase inhibitor activity							78.59915	KEEP	16	22	-1	39	69	16	22	-1	83.721976	39	69	0.272727	1	0	0	0	0	0	0	1	0	--	--		0	A			SERPINB10_uc010xew.1_Silent_p.T119T	236	GBM-32-2494-TP	p.T119T	G	GAGAGAAAACGTATGCATTTC	NM_005024	NP_005015	61585321	P48595	SPB10_HUMAN	0			4	447	+	A	A		Esophageal squamous(42;0.131)	Silent	119						
SERPINB12	89777	broad.mit.edu	GRCh37	18	61223463	61223463	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01	TCGA-06-0876-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269491.1:c.71G>A	p.Arg24His	p.R24H	ENST00000269491	NM_080474.1	24	cGt/cAt	0			1			A	R/H	uc010xen.1	protein_coding	YES	CCDS11984.1			71/1218										0	c.(70-72)CGT>CAT			hmmpanther:PTHR11461:SF125,hmmpanther:PTHR11461,Pfam_domain:PF00079,Gene3D:3.30.497.10,SMART_domains:SM00093,Superfamily_domains:SSF56574	serine (or cysteine) proteinase inhibitor, clade				ENSP00000269491		7-Jan	6.59E-05					6.00E-05		0.000242	rs770606706,COSM2152109	7-Jan	.		ENST00000269491	Transcript			negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	ENSG00000166634	g.chr18:61223463G>A	14220			MODERATE		0.435	neutral	getma.org/?cm=msa&ty=f&p=SPB12_HUMAN&rb=6&re=405&var=R24H	getma.org/pdb.php?prot=SPB12_HUMAN&from=6&to=405&var=R24H	getma.org/?cm=var&var=hg19,18,61223463,G,A&fts=all	R24H	--	--	1																																		SERPINB12_uc010xeo.1_Missense_Mutation_p.R24H	0,1	1		benign(0.003)	p.R24H	NM_080474	NP_536722		tolerated(0.54)	0,1	SPB12_HUMAN	SERPINB12	HGNC	Q96P63	SPB12_HUMAN			Q3SYB5_HUMAN		1	71	+			UPI0000135590	24					SNV	SERPINB12,missense_variant,p.Arg24His,ENST00000382768,;SERPINB12,missense_variant,p.Arg24His,ENST00000269491,NM_080474.1;	uc010xen.1	c.71G>A	71/1218	2	2			c.71G>A						18	SNP	c.(70-72)CGT>CAT	33	33				0	Broad	serine (or cysteine) proteinase inhibitor, clade			61223463		0.393	ENSG00000166634	13879	g.chr18:61223463G>A	negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity							421.024628	KEEP	104	49	-1	178	92	104	49	-1	426.695154	178	92	0.372152	1	0	0	0	0	1	0	0	0	--	--		0	A			SERPINB12_uc010xeo.1_Missense_Mutation_p.R24H	72	GBM-06-0876-TP	p.R24H	G	AAAGATGATCGTCATAAAAAC	NM_080474	NP_536722	61223463	Q96P63	SPB12_HUMAN	0			1	71	+	A	A			Missense_Mutation	24						
SERPINB12	0	broad.mit.edu	GRCh37	18	61232706	61232706	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269491.1:c.674C>T	p.Thr225Met	p.T225M	ENST00000269491	NM_080474.1	225	aCg/aTg	0		T:0	1	T:0		T	T/M	uc010xen.1	protein_coding	YES	CCDS11984.1			674/1218										0	c.(673-675)ACG>ATG			hmmpanther:PTHR11461:SF125,hmmpanther:PTHR11461,Gene3D:2.30.39.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574	serine (or cysteine) proteinase inhibitor, clade		T:0		ENSP00000269491	T:0	7-Jun	7.41E-05	9.61E-05				4.50E-05		0.000305	rs200518644,COSM315092	7-Jun	.		ENST00000269491	Transcript		T:0.0004	negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	ENSG00000166634	g.chr18:61232706C>T	14220			MODERATE		0.64	neutral	getma.org/?cm=msa&ty=f&p=SPB12_HUMAN&rb=6&re=405&var=T225M	getma.org/pdb.php?prot=SPB12_HUMAN&from=6&to=405&var=T225M	getma.org/?cm=var&var=hg19,18,61232706,C,T&fts=all	T225M	--	--	1																																		SERPINB12_uc010xeo.1_Missense_Mutation_p.T245M	0,1	1		benign(0.009)	p.T225M	NM_080474	NP_536722	T:0.002	tolerated(0.19)	0,1	SPB12_HUMAN	SERPINB12	HGNC	Q96P63	SPB12_HUMAN			Q3SYB5_HUMAN		6	674	+			UPI0000135590	225					SNV	SERPINB12,missense_variant,p.Thr245Met,ENST00000382768,;SERPINB12,missense_variant,p.Thr225Met,ENST00000269491,NM_080474.1;	uc010xen.1	c.674C>T	674/1218	1	1			c.674C>T						18	SNP	c.(673-675)ACG>ATG	16	16				0	Broad	serine (or cysteine) proteinase inhibitor, clade			61232706		0.488	ENSG00000166634	13879	g.chr18:61232706C>T	negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity							87.550889	KEEP	15	20	-1	37	61	15	20	-1	93.120235	37	61	0.271186	1	0	0	0	0	1	0	0	0	--	--		0	T			SERPINB12_uc010xeo.1_Missense_Mutation_p.T245M	159	GBM-19-1390-TP	p.T225M	C	AAGATGATGACGCAAAAAGGC	NM_080474	NP_536722	61232706	Q96P63	SPB12_HUMAN	0			6	674	+	T	T			Missense_Mutation	225						
SERPINB13	5275	broad.mit.edu	GRCh37	18	61256912	61256912	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs61733412	byFrequency	TCGA-06-0171-01	TCGA-06-0171-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344731.5:c.188C>T	p.Thr63Met	p.T63M	ENST00000344731	NM_012397.3	63	aCg/aTg	0	T:0.0007	T:0.0023	1	T:0		T	T/M	uc002ljc.2	protein_coding	YES	CCDS11985.1			188/1176									ovary(1)	1	c.(187-189)ACG>ATG			Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF152,SMART_domains:SM00093,Superfamily_domains:SSF56574	serine (or cysteine) proteinase inhibitor, clade		T:0	T:0.0005	ENSP00000341584	T:0.001	8-Mar	0.000313	0.00127	0.000174			0.000321		0.000123	rs61733412,COSM2150349	8-Mar	common_variant		ENST00000344731	Transcript		T:0.0008	regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	ENSG00000197641	g.chr18:61256912C>T	8944			MODERATE		1.69	low	getma.org/?cm=msa&ty=f&p=SPB13_HUMAN&rb=6&re=391&var=T63M	getma.org/pdb.php?prot=SPB13_HUMAN&from=6&to=391&var=T63M	getma.org/?cm=var&var=hg19,18,61256912,C,T&fts=all	T63M	--	--	1																																		SERPINB13_uc002ljd.2_Translation_Start_Site|SERPINB13_uc010xep.1_Missense_Mutation_p.T63M|SERPINB13_uc010xeq.1_Translation_Start_Site|SERPINB13_uc010xer.1_Translation_Start_Site	0,1	1		benign(0.073)	p.T63M	NM_012397	NP_036529	T:0	deleterious(0.02)	0,1	SPB13_HUMAN	SERPINB13	HGNC	Q9UIV8	SPB13_HUMAN					3	356	+			UPI000004EE29	63					SNV	SERPINB13,missense_variant,p.Thr63Met,ENST00000344731,NM_012397.3;SERPINB13,missense_variant,p.Thr63Met,ENST00000269489,;SERPINB13,missense_variant,p.Thr42Met,ENST00000415733,;SERPINB13,missense_variant,p.Thr93Met,ENST00000431153,;SERPINB13,missense_variant,p.Thr63Met,ENST00000438844,;SERPINB13,non_coding_transcript_exon_variant,,ENST00000479842,;	uc002ljc.2	c.188C>T	290/3114	2	2			c.188C>T						18	SNP	c.(187-189)ACG>ATG	35	35			ovary(1)	1	Broad	serine (or cysteine) proteinase inhibitor, clade			61256912		0.418	ENSG00000197641	13880	g.chr18:61256912C>T	regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity							22.018327	KEEP	5	7	-1	31	18	5	7	-1	26.41054	31	18	0.196078	1	0	0	0	0	1	0	0	0	--	--		0	T			SERPINB13_uc002ljd.2_Translation_Start_Site|SERPINB13_uc010xep.1_Missense_Mutation_p.T63M|SERPINB13_uc010xeq.1_Translation_Start_Site|SERPINB13_uc010xer.1_Translation_Start_Site	35	GBM-06-0171-TP	p.T63M	C	GAAAAAGAGACGAAGAGCTCA	NM_012397	NP_036529	61256912	Q9UIV8	SPB13_HUMAN	0			3	356	+	T	T			Missense_Mutation	63						
SERPINB13	0	broad.mit.edu	GRCh37	18	61262397	61262397	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-26-5139-01	TCGA-26-5139-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344731.5:c.750C>T	p.Asn250=	p.N250=	ENST00000344731	NM_012397.3	250	aaC/aaT	0	T:0		1			T	N	uc002ljc.2	protein_coding	YES	CCDS11985.1			750/1176									ovary(1)	1	c.(748-750)AAC>AAT			Gene3D:2.30.39.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF152,SMART_domains:SM00093,Superfamily_domains:SSF56574	serine (or cysteine) proteinase inhibitor, clade			T:0.0001	ENSP00000341584		8-Jul	0.000148	9.63E-05		0.000116		0.000196		0.000188	rs368658099,COSM564078	8-Jul	.		ENST00000344731	Transcript			regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	ENSG00000197641	g.chr18:61262397C>T	8944			LOW								--	--	1																																		SERPINB13_uc002ljd.2_Silent_p.N114N|SERPINB13_uc010xep.1_Silent_p.N259N|SERPINB13_uc010xeq.1_Silent_p.N71N|SERPINB13_uc010xer.1_Silent_p.N71N	0,1	1			p.N250N	NM_012397	NP_036529			0,1	SPB13_HUMAN	SERPINB13	HGNC	Q9UIV8	SPB13_HUMAN					7	918	+			UPI000004EE29	250					SNV	SERPINB13,synonymous_variant,p.=,ENST00000344731,NM_012397.3;SERPINB13,synonymous_variant,p.=,ENST00000415733,;SERPINB13,intron_variant,,ENST00000269489,;SERPINB13,downstream_gene_variant,,ENST00000431153,;SERPINB13,3_prime_UTR_variant,,ENST00000438844,;	uc002ljc.2	c.750C>T	852/3114	2	2			c.750C>T						18	SNP	c.(748-750)AAC>AAT	46	46			ovary(1)	1	Broad	serine (or cysteine) proteinase inhibitor, clade			61262397		0.458	ENSG00000197641	13880	g.chr18:61262397C>T	regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity							235.994874	KEEP	51	69	-1	105	91	51	69	-1	240.211791	105	91	0.369176	1	0	0	0	0	0	0	1	0	--	--		0	T			SERPINB13_uc002ljd.2_Silent_p.N114N|SERPINB13_uc010xep.1_Silent_p.N259N|SERPINB13_uc010xeq.1_Silent_p.N71N|SERPINB13_uc010xer.1_Silent_p.N71N	186	GBM-26-5139-TP	p.N250N	C	TTCTGCCCAACGACATCGATG	NM_012397	NP_036529	61262397	Q9UIV8	SPB13_HUMAN	0			7	918	+	T	T			Silent	250						
SERPINB2	0	broad.mit.edu	GRCh37	18	61570323	61570323	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5954-01	TCGA-19-5954-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299502.4:c.1032G>A	p.Ser344=	p.S344=	ENST00000299502	NM_002575.2	344	tcG/tcA	0			1			A	S	uc010xeu.1	protein_coding		CCDS11989.1			1032/1248									lung(1)|skin(1)	2	c.(1030-1032)TCG>TCA			Superfamily_domains:SSF56574,SMART_domains:SM00093,Pfam_domain:PF00079,Gene3D:3.30.497.10,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF61	serine (or cysteine) proteinase inhibitor, clade	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)			ENSP00000299502		8-Aug	4.12E-05					7.51E-05			rs768454108,COSM193072	8-Aug	.		ENST00000299502	Transcript			anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	ENSG00000197632	g.chr18:61570323G>A	8584			LOW								--	--	1																																		SERPINB2_uc002ljo.2_Silent_p.S344S|SERPINB2_uc010dqh.2_Silent_p.S274S|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron	0,1				p.S344S	NM_001143818	NP_001137290			0,1	PAI2_HUMAN	SERPINB2	HGNC	P05120	PAI2_HUMAN			Q6LDR6_HUMAN,E9PDK7_HUMAN,E7ERB5_HUMAN,E7EPJ9_HUMAN		9	1365	+		Esophageal squamous(42;0.131)	UPI000002BB06	344					SNV	SERPINB2,synonymous_variant,p.=,ENST00000457692,NM_001143818.1;SERPINB2,synonymous_variant,p.=,ENST00000299502,NM_002575.2;SERPINB10,intron_variant,,ENST00000397996,;SERPINB10,intron_variant,,ENST00000418725,;SERPINB10,upstream_gene_variant,,ENST00000238508,NM_005024.1;SERPINB2,downstream_gene_variant,,ENST00000482254,;	uc010xeu.1	c.1032G>A	1112/1913	2	2			c.1032G>A						18	SNP	c.(1030-1032)TCG>TCA	32	32			lung(1)|skin(1)	2	Broad	serine (or cysteine) proteinase inhibitor, clade		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	61570323		0.498	ENSG00000197632	13881	g.chr18:61570323G>A	anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity							125.617204	KEEP	19	24	-1	21	32	19	24	-1	125.810345	21	32	0.449438	1	0	0	0	0	0	0	1	0	--	--		0	A			SERPINB2_uc002ljo.2_Silent_p.S344S|SERPINB2_uc010dqh.2_Silent_p.S274S|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron	174	GBM-19-5954-TP	p.S344S	G	CAGGGATGTCGGAGAGGAATG	NM_001143818	NP_001137290	61570323	P05120	PAI2_HUMAN	0			9	1365	+	A	A		Esophageal squamous(42;0.131)	Silent	344						
SERPINB2	0	broad.mit.edu	GRCh37	18	61569672	61569672	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1833-01	TCGA-27-1833-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299502.4:c.713G>A	p.Arg238His	p.R238H	ENST00000299502	NM_002575.2	238	cGt/cAt	0			1			A	R/H	uc010xeu.1	protein_coding		CCDS11989.1			713/1248									lung(1)|skin(1)	2	c.(712-714)CGT>CAT			Superfamily_domains:SSF56574,SMART_domains:SM00093,Gene3D:2.30.39.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF61	serine (or cysteine) proteinase inhibitor, clade	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)			ENSP00000299502		8-Jul									COSM3403612	8-Jul	.		ENST00000299502	Transcript			anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	ENSG00000197632	g.chr18:61569672G>A	8584			MODERATE		0.595	neutral	getma.org/?cm=msa&ty=f&p=PAI2_HUMAN&rb=6&re=415&var=R238H	getma.org/pdb.php?prot=PAI2_HUMAN&from=6&to=415&var=R238H	getma.org/?cm=var&var=hg19,18,61569672,G,A&fts=all	R238H	--	--	1																																		SERPINB2_uc002ljo.2_Missense_Mutation_p.R238H|SERPINB2_uc010dqh.2_Missense_Mutation_p.R168H|SERPINB2_uc002ljp.1_Missense_Mutation_p.R43H|SERPINB2_uc002ljq.1_Missense_Mutation_p.R43H	1			benign(0.002)	p.R238H	NM_001143818	NP_001137290		tolerated(0.34)	1	PAI2_HUMAN	SERPINB2	HGNC	P05120	PAI2_HUMAN			Q6LDR6_HUMAN,E9PDK7_HUMAN,E7ERB5_HUMAN,E7EPJ9_HUMAN		8	1046	+		Esophageal squamous(42;0.131)	UPI000002BB06	238					SNV	SERPINB2,missense_variant,p.Arg238His,ENST00000457692,NM_001143818.1;SERPINB2,missense_variant,p.Arg238His,ENST00000299502,NM_002575.2;SERPINB10,missense_variant,p.Arg115His,ENST00000397996,;SERPINB10,missense_variant,p.Arg115His,ENST00000418725,;SERPINB2,downstream_gene_variant,,ENST00000413956,;SERPINB2,non_coding_transcript_exon_variant,,ENST00000482254,;	uc010xeu.1	c.713G>A	793/1913	2	2			c.713G>A						18	SNP	c.(712-714)CGT>CAT	39	39			lung(1)|skin(1)	2	Broad	serine (or cysteine) proteinase inhibitor, clade		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	61569672		0.363	ENSG00000197632	13881	g.chr18:61569672G>A	anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity							139.560193	KEEP	21	31	-1	49	50	21	31	-1	142.61315	49	50	0.342857	1	0	0	0	0	1	0	0	0	--	--		0	A			SERPINB2_uc002ljo.2_Missense_Mutation_p.R238H|SERPINB2_uc010dqh.2_Missense_Mutation_p.R168H|SERPINB2_uc002ljp.1_Missense_Mutation_p.R43H|SERPINB2_uc002ljq.1_Missense_Mutation_p.R43H	192	GBM-27-1833-TP	p.R238H	G	ATGTACTTGCGTGAAAAGCTA	NM_001143818	NP_001137290	61569672	P05120	PAI2_HUMAN	0			8	1046	+	A	A		Esophageal squamous(42;0.131)	Missense_Mutation	238						
SERPINB3	0	broad.mit.edu	GRCh37	18	61323102	61323102	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140650845	by1000genomes	TCGA-41-2575-01	TCGA-41-2575-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283752.5:c.962G>A	p.Arg321His	p.R321H	ENST00000283752	NM_006919.2	321	cGc/cAc	0		T:0.0008	1	T:0		T	R/H	uc002lji.2	protein_coding	YES	CCDS11987.1			962/1173									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(961-963)CGC>CAC			hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF155,Pfam_domain:PF00079,Gene3D:3.30.497.10,SMART_domains:SM00093,Superfamily_domains:SSF56574	serine (or cysteine) proteinase inhibitor, clade		T:0		ENSP00000283752	T:0.001	8-Aug	2.47E-05	9.61E-05				3.00E-05			rs140650845,COSM3403606	8-Aug	.		ENST00000283752	Transcript		T:0.0004	regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	ENSG00000057149	g.chr18:61323102C>T	10569			MODERATE		2.075	medium	getma.org/?cm=msa&ty=f&p=SPB3_HUMAN&rb=6&re=390&var=R321H	getma.org/pdb.php?prot=SPB3_HUMAN&from=6&to=390&var=R321H	getma.org/?cm=var&var=hg19,18,61323102,C,T&fts=all	R321H	--	--	1																																		SERPINB4_uc002ljg.2_Intron|SERPINB3_uc010dqa.2_Missense_Mutation_p.R269H	0,1	1		benign(0.003)	p.R321H	NM_006919	NP_008850	T:0	tolerated(0.16)	0,1	SPB3_HUMAN	SERPINB3	HGNC	P29508	SPB3_HUMAN			Q9BYH9_HUMAN		8	1106	-			UPI0000038A19	321					SNV	SERPINB3,missense_variant,p.Arg321His,ENST00000283752,NM_006919.2;SERPINB3,missense_variant,p.Arg269His,ENST00000332821,;SERPINB11,non_coding_transcript_exon_variant,,ENST00000489748,;	uc002lji.2	c.962G>A	1106/1777	1	1			c.962G>A						18	SNP	c.(961-963)CGC>CAC	16	16			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	serine (or cysteine) proteinase inhibitor, clade			61323102		0.542	ENSG00000057149	13882	g.chr18:61323102C>T	regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity							434.402426	KEEP	82	62	-1	41	63	82	62	-1	435.813217	41	63	0.582979	1	0	0	0	0	1	0	0	0	--	--		0	T			SERPINB4_uc002ljg.2_Intron|SERPINB3_uc010dqa.2_Missense_Mutation_p.R269H	253	GBM-41-2575-TP	p.R321H	C	CACGAGACCGCGGCTCCCGGT	NM_006919	NP_008850	61323102	P29508	SPB3_HUMAN	0			8	1106	-	T	T			Missense_Mutation	321						
SERPINB3	6317		GRCh37	18	61325755	61325755	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-28-2510-01	TCGA-28-2510-01																				ENST00000283752.5:c.461A>T	p.Gln154Leu	p.Q154L	ENST00000283752	NM_006919.2	154	cAa/cTa	0																																																																																																																																																																																																																																												
SERPINB4	6318	broad.mit.edu	GRCh37	18	61307011	61307011	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T			TCGA-06-0744-01	TCGA-06-0744-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341074.5:c.470-1G>A		p.X157_splice	ENST00000341074	NM_002974.2	157		0			1			T		uc002ljf.2	protein_coding	YES	CCDS11986.1			470/1173									ovary(2)|lung(1)	3	c.e6-1				serine (or cysteine) proteinase inhibitor, clade				ENSP00000343445											COSM2151689		.		ENST00000341074	Transcript			immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	ENSG00000206073	g.chr18:61307011C>T	10570			HIGH	7-May							--	--	1																																		SERPINB4_uc002lje.2_Splice_Site_p.E157_splice|SERPINB4_uc002ljg.2_Intron	1	1			p.E157_splice	NM_002974	NP_002965			1	SPB4_HUMAN	SERPINB4	HGNC	P48594	SPB4_HUMAN					6	556	-			UPI0000038A1A						SNV	SERPINB4,splice_acceptor_variant,,ENST00000341074,NM_002974.2;SERPINB4,splice_acceptor_variant,,ENST00000356424,;SERPINB4,splice_acceptor_variant,,ENST00000413673,;SERPINB4,splice_acceptor_variant,,ENST00000436264,;SERPINB4,downstream_gene_variant,,ENST00000498496,;	uc002ljf.2	c.470_splice	-/1749	5	1			c.470_splice						18	SNP	c.e6-1	4	4			ovary(2)|lung(1)	3	Broad	serine (or cysteine) proteinase inhibitor, clade			61307011		0.373	ENSG00000206073	13883	g.chr18:61307011C>T	immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			163			163	122.702739	KEEP	25	19	-1	44	20	25	19	-1	123.517159	44	20	0.402062	1	0	0	0	0	0	0	0	1	--	--		0	T			SERPINB4_uc002lje.2_Splice_Site_p.E157_splice|SERPINB4_uc002ljg.2_Intron	66	GBM-06-0744-TP	p.E157_splice	C	TTAATTTTTTCTGCAAGGGAA	NM_002974	NP_002965	61307011	P48594	SPB4_HUMAN	0			6	556	-	T	T			Splice_Site							
SERPINB4	0	broad.mit.edu	GRCh37	18	61309010	61309010	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6391-01	TCGA-06-6391-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341074.5:c.335C>T	p.Thr112Met	p.T112M	ENST00000341074	NM_002974.2	112	aCg/aTg	0			1			A	T/M	uc002ljf.2	protein_coding	YES	CCDS11986.1			335/1173									ovary(2)|lung(1)	3	c.(334-336)ACG>ATG			hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF155,Pfam_domain:PF00079,Gene3D:3.30.497.10,SMART_domains:SM00093,Superfamily_domains:SSF56574	serine (or cysteine) proteinase inhibitor, clade				ENSP00000343445		8-Apr	2.47E-05							0.000182	rs781536461,COSM989488	8-Apr	.		ENST00000341074	Transcript			immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	ENSG00000206073	g.chr18:61309010G>A	10570			MODERATE		2.22	medium	getma.org/?cm=msa&ty=f&p=SPB4_HUMAN&rb=6&re=390&var=T112M	getma.org/pdb.php?prot=SPB4_HUMAN&from=6&to=390&var=T112M	getma.org/?cm=var&var=hg19,18,61309010,G,A&fts=all	T112M	--	--	1																																		SERPINB4_uc002lje.2_Missense_Mutation_p.T112M|SERPINB4_uc002ljg.2_Intron	0,1	1		benign(0.044)	p.T112M	NM_002974	NP_002965		deleterious(0.02)	0,1	SPB4_HUMAN	SERPINB4	HGNC	P48594	SPB4_HUMAN					4	421	-			UPI0000038A1A	112					SNV	SERPINB4,missense_variant,p.Thr112Met,ENST00000341074,NM_002974.2;SERPINB4,missense_variant,p.Thr112Met,ENST00000356424,;SERPINB4,missense_variant,p.Thr114Met,ENST00000413673,;SERPINB4,intron_variant,,ENST00000436264,;SERPINB4,downstream_gene_variant,,ENST00000498496,;	uc002ljf.2	c.335C>T	451/1749	1	1			c.335C>T						18	SNP	c.(334-336)ACG>ATG	61	61			ovary(2)|lung(1)	3	Broad	serine (or cysteine) proteinase inhibitor, clade			61309010		0.423	ENSG00000206073	13883	g.chr18:61309010G>A	immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			163			163	73.243482	KEEP	25	17	-1	87	114	25	17	-1	95.164823	87	114	0.169811	1	0	0	0	0	1	0	0	0	--	--		0	A			SERPINB4_uc002lje.2_Missense_Mutation_p.T112M|SERPINB4_uc002ljg.2_Intron	107	GBM-06-6391-TP	p.T112M	G	AAATTGATACGTCTTTTCTCC	NM_002974	NP_002965	61309010	P48594	SPB4_HUMAN	0			4	421	-	A	A			Missense_Mutation	112						
SERPINB4	0	broad.mit.edu	GRCh37	18	61306946	61306946	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6700-01	TCGA-06-6700-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341074.5:c.534C>T	p.Asn178=	p.N178=	ENST00000341074	NM_002974.2	178	aaC/aaT	0			1			A	N	uc002ljf.2	protein_coding	YES	CCDS11986.1			534/1173									ovary(2)|lung(1)	3	c.(532-534)AAC>AAT			hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF155,Pfam_domain:PF00079,Gene3D:3.30.497.10,SMART_domains:SM00093,Superfamily_domains:SSF56574	serine (or cysteine) proteinase inhibitor, clade				ENSP00000343445		8-Jun	4.94E-05		8.77E-05	0.000464				6.06E-05	rs763091506,COSM2882080	8-Jun	common_variant		ENST00000341074	Transcript			immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	ENSG00000206073	g.chr18:61306946G>A	10570			LOW								--	--	1																																		SERPINB4_uc002lje.2_Silent_p.N178N|SERPINB4_uc002ljg.2_Intron	0,1	1			p.N178N	NM_002974	NP_002965			0,1	SPB4_HUMAN	SERPINB4	HGNC	P48594	SPB4_HUMAN					6	620	-			UPI0000038A1A	178					SNV	SERPINB4,synonymous_variant,p.=,ENST00000341074,NM_002974.2;SERPINB4,synonymous_variant,p.=,ENST00000356424,;SERPINB4,synonymous_variant,p.=,ENST00000413673,;SERPINB4,synonymous_variant,p.=,ENST00000436264,;SERPINB4,downstream_gene_variant,,ENST00000498496,;	uc002ljf.2	c.534C>T	650/1749	2	2			c.534C>T						18	SNP	c.(532-534)AAC>AAT	47	47			ovary(2)|lung(1)	3	Broad	serine (or cysteine) proteinase inhibitor, clade			61306946		0.318	ENSG00000206073	13883	g.chr18:61306946G>A	immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity		(NCIH1703-Tumor)|(MOTN1-Tumor)|(RMGI-Tumor)	163		(NCIH1703-Tumor)|(MOTN1-Tumor)|(RMGI-Tumor)	163	28.106236	KEEP	5	10	-1	44	27	5	10	-1	35.641772	44	27	0.179487	1	0	0	0	0	0	0	1	0	--	--		0	A			SERPINB4_uc002lje.2_Silent_p.N178N|SERPINB4_uc002ljg.2_Intron	114	GBM-06-6700-TP	p.N178N	G	AATAGATTGCGTTCACAAGAA	NM_002974	NP_002965	61306946	P48594	SPB4_HUMAN	0			6	620	-	A	A			Silent	178						
SERPINB4	0	broad.mit.edu	GRCh37	18	61305084	61305084	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01	TCGA-28-2513-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341074.5:c.1042G>A	p.Ala348Thr	p.A348T	ENST00000341074	NM_002974.2	348	Gct/Act	0		T:0	1	T:0		T	A/T	uc002ljf.2	protein_coding	YES	CCDS11986.1			1042/1173									ovary(2)|lung(1)	3	c.(1042-1044)GCT>ACT			Low_complexity_(Seg):seg,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF155,Pfam_domain:PF00079,Gene3D:2.30.39.10,SMART_domains:SM00093,Superfamily_domains:SSF56574	serine (or cysteine) proteinase inhibitor, clade		T:0		ENSP00000343445	T:0.002	8-Aug	6.59E-05					9.01E-05	0.0011	6.06E-05	rs200350590,COSM709141	8-Aug	.		ENST00000341074	Transcript		T:0.0004	immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	ENSG00000206073	g.chr18:61305084C>T	10570			MODERATE		1.305	low	getma.org/?cm=msa&ty=f&p=SPB4_HUMAN&rb=6&re=390&var=A348T	getma.org/pdb.php?prot=SPB4_HUMAN&from=6&to=390&var=A348T	getma.org/?cm=var&var=hg19,18,61305084,C,T&fts=all	A348T	--	--	1																																		SERPINB4_uc002lje.2_Missense_Mutation_p.A327T|SERPINB4_uc002ljg.2_Missense_Mutation_p.A348T	0,1	1		benign(0)	p.A348T	NM_002974	NP_002965	T:0	deleterious(0.03)	0,1	SPB4_HUMAN	SERPINB4	HGNC	P48594	SPB4_HUMAN					8	1128	-			UPI0000038A1A	348					SNV	SERPINB4,missense_variant,p.Ala348Thr,ENST00000341074,NM_002974.2;SERPINB4,missense_variant,p.Ala296Thr,ENST00000356424,;SERPINB4,missense_variant,p.Ala329Thr,ENST00000413673,;SERPINB4,downstream_gene_variant,,ENST00000436264,;	uc002ljf.2	c.1042G>A	1158/1749	2	2			c.1042G>A						18	SNP	c.(1042-1044)GCT>ACT	45	45			ovary(2)|lung(1)	3	Broad	serine (or cysteine) proteinase inhibitor, clade			61305084		0.468	ENSG00000206073	13883	g.chr18:61305084C>T	immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			163			163	13.073985	KEEP	8	12	-1	53	67	8	12	-1	26.867313	53	67	0.115789	1	0	0	0	0	1	0	0	0	--	--		0	T			SERPINB4_uc002lje.2_Missense_Mutation_p.A327T|SERPINB4_uc002ljg.2_Missense_Mutation_p.A348T	213	GBM-28-2513-TP	p.A348T	C	ACTACTACAGCGGTGGCAGCT	NM_002974	NP_002965	61305084	P48594	SPB4_HUMAN	0			8	1128	-	T	T			Missense_Mutation	348						
SERPINB5	5268	broad.mit.edu	GRCh37	18	61156656	61156656	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs145559318		TCGA-06-0152-01	TCGA-06-0152-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382771.4:c.383C>T	p.Thr128Met	p.T128M	ENST00000382771	NM_002639.4	128	aCg/aTg	0			1			T	T/M	uc002liz.3	protein_coding	YES	CCDS32839.1			383/1128									ovary(1)	1	c.(382-384)ACG>ATG			hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF55,Gene3D:3.30.497.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574,Prints_domain:PR00676	serine (or cysteine) proteinase inhibitor, clade				ENSP00000372221		7-Apr									COSM2149891,COSM3403605	7-Apr	.		ENST00000382771	Transcript			cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity	ENSG00000206075	g.chr18:61156656C>T	8949			MODERATE		2.855	medium	getma.org/?cm=msa&ty=f&p=SPB5_HUMAN&rb=6&re=375&var=T128M	getma.org/pdb.php?prot=SPB5_HUMAN&from=6&to=375&var=T128M	getma.org/?cm=var&var=hg19,18,61156656,C,T&fts=all	T128M	--	--	1																																		SERPINB5_uc002liy.2_Missense_Mutation_p.T128M	1,1	1		probably_damaging(1)	p.T128M	NM_002639	NP_002630		deleterious(0.01)	1,1	SPB5_HUMAN	SERPINB5	HGNC	P36952	SPB5_HUMAN			C9JLM5_HUMAN		4	525	+			UPI0000201E51	128					SNV	SERPINB5,missense_variant,p.Thr128Met,ENST00000382771,NM_002639.4;SERPINB5,missense_variant,p.Thr128Met,ENST00000489441,;SERPINB5,missense_variant,p.Thr128Met,ENST00000424602,;RP11-635N19.3,downstream_gene_variant,,ENST00000602456,;SERPINB5,upstream_gene_variant,,ENST00000464346,;SERPINB5,upstream_gene_variant,,ENST00000465652,;SERPINB5,non_coding_transcript_exon_variant,,ENST00000588986,;	uc002liz.3	c.383C>T	675/2783	2	2			c.383C>T						18	SNP	c.(382-384)ACG>ATG	40	40			ovary(1)	1	Broad	serine (or cysteine) proteinase inhibitor, clade			61156656		0.388	ENSG00000206075	13884	g.chr18:61156656C>T	cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity							66.700311	KEEP	15	14	-1	45	42	15	14	-1	72.608471	45	42	0.25	1	0	0	0	0	1	0	0	0	--	--		0	T			SERPINB5_uc002liy.2_Missense_Mutation_p.T128M	25	GBM-06-0152-TP	p.T128M	C	TTGGAAGAAACGAAAGGTCAG	NM_002639	NP_002630	61156656	P36952	SPB5_HUMAN	0			4	525	+	T	T			Missense_Mutation	128						
SERPINB7	0	broad.mit.edu	GRCh37	18	61471670	61471670	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6698-01	TCGA-06-6698-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336429.2:c.944G>A	p.Arg315His	p.R315H	ENST00000336429	NM_001040147.2	315	cGt/cAt	0			1			A	R/H	uc002ljl.2	protein_coding		CCDS11988.1			944/1143								p.R315H(1)	lung(2)|central_nervous_system(1)	3	c.(943-945)CGT>CAT			hmmpanther:PTHR11461:SF56,hmmpanther:PTHR11461,Gene3D:3.30.497.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574	serine (or cysteine) proteinase inhibitor, clade				ENSP00000337212		8-Aug	4.12E-05			0.000116				0.000243	rs765584752,COSM39465	8-Aug	.		ENST00000336429	Transcript	1		regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	ENSG00000166396	g.chr18:61471670G>A	13902			MODERATE		1.99	medium	getma.org/?cm=msa&ty=f&p=SPB7_HUMAN&rb=6&re=380&var=R315H	getma.org/pdb.php?prot=SPB7_HUMAN&from=6&to=380&var=R315H	getma.org/?cm=var&var=hg19,18,61471670,G,A&fts=all	R315H	--	--	1																																		SERPINB7_uc002ljm.2_Missense_Mutation_p.R315H|SERPINB7_uc010xet.1_Missense_Mutation_p.R298H|SERPINB7_uc010dqg.2_Missense_Mutation_p.R315H	0,1			probably_damaging(0.992)	p.R315H	NM_001040147	NP_001035237		tolerated(0.12)	0,1	SPB7_HUMAN	SERPINB7	HGNC	O75635	SPB7_HUMAN			Q6MZG5_HUMAN,C9JM00_HUMAN,C9JA68_HUMAN		8	1040	+		Esophageal squamous(42;0.129)	UPI0000135DAA	315					SNV	SERPINB7,missense_variant,p.Arg315His,ENST00000398019,NM_003784.3;SERPINB7,missense_variant,p.Arg315His,ENST00000336429,NM_001040147.2;SERPINB7,missense_variant,p.Arg315His,ENST00000546027,NM_001261830.1;SERPINB7,missense_variant,p.Arg298His,ENST00000540675,NM_001261831.1;	uc002ljl.2	c.944G>A	1040/1973	1	1			c.944G>A						18	SNP	c.(943-945)CGT>CAT	55	55		p.R315H(1)	lung(2)|central_nervous_system(1)	3	Broad	serine (or cysteine) proteinase inhibitor, clade			61471670		0.428	ENSG00000166396	13886	g.chr18:61471670G>A	regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity							61.215285	KEEP	11	15	-1	18	21	11	15	-1	61.929372	18	21	0.383333	1	0	0	0	0	1	0	0	0	--	--		0	A			SERPINB7_uc002ljm.2_Missense_Mutation_p.R315H|SERPINB7_uc010xet.1_Missense_Mutation_p.R298H|SERPINB7_uc010dqg.2_Missense_Mutation_p.R315H	112	GBM-06-6698-TP	p.R315H	G	TCGGGGGGTCGTCTGTATATA	NM_001040147	NP_001035237	61471670	O75635	SPB7_HUMAN	0			8	1040	+	A	A		Esophageal squamous(42;0.129)	Missense_Mutation	315						
SERPINB7	0	broad.mit.edu	GRCh37	18	61465969	61465969	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-41-2572-01	TCGA-41-2572-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336429.2:c.586A>G	p.Lys196Glu	p.K196E	ENST00000336429	NM_001040147.2	196	Aaa/Gaa	0			1			G	K/E	uc002ljl.2	protein_coding		CCDS11988.1			586/1143									lung(2)|central_nervous_system(1)	3	c.(586-588)AAA>GAA			hmmpanther:PTHR11461:SF56,hmmpanther:PTHR11461,Gene3D:2.30.39.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574	serine (or cysteine) proteinase inhibitor, clade				ENSP00000337212		8-Jun									COSM3403610	8-Jun	.		ENST00000336429	Transcript	1		regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	ENSG00000166396	g.chr18:61465969A>G	13902			MODERATE		2.295	medium	getma.org/?cm=msa&ty=f&p=SPB7_HUMAN&rb=6&re=380&var=K196E	getma.org/pdb.php?prot=SPB7_HUMAN&from=6&to=380&var=K196E	getma.org/?cm=var&var=hg19,18,61465969,A,G&fts=all	K196E	--	--	1																																		SERPINB7_uc002ljm.2_Missense_Mutation_p.K196E|SERPINB7_uc010xet.1_Missense_Mutation_p.K179E|SERPINB7_uc010dqg.2_Missense_Mutation_p.K196E	1			benign(0.403)	p.K196E	NM_001040147	NP_001035237		tolerated(0.07)	1	SPB7_HUMAN	SERPINB7	HGNC	O75635	SPB7_HUMAN			Q6MZG5_HUMAN,C9JM00_HUMAN,C9JA68_HUMAN		6	682	+		Esophageal squamous(42;0.129)	UPI0000135DAA	196					SNV	SERPINB7,missense_variant,p.Lys196Glu,ENST00000398019,NM_003784.3;SERPINB7,missense_variant,p.Lys196Glu,ENST00000336429,NM_001040147.2;SERPINB7,missense_variant,p.Lys196Glu,ENST00000546027,NM_001261830.1;SERPINB7,missense_variant,p.Lys179Glu,ENST00000540675,NM_001261831.1;SERPINB7,downstream_gene_variant,,ENST00000425392,;SERPINB7,downstream_gene_variant,,ENST00000447428,;SERPINB7,downstream_gene_variant,,ENST00000431370,;	uc002ljl.2	c.586A>G	682/1973	3	3			c.586A>G						18	SNP	c.(586-588)AAA>GAA	64	64			lung(2)|central_nervous_system(1)	3	Broad	serine (or cysteine) proteinase inhibitor, clade			61465969		0.403	ENSG00000166396	13886	g.chr18:61465969A>G	regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity							354.272698	KEEP	53	75	-1	72	98	53	75	-1	355.632074	72	98	0.421875	1	0	0	0	0	1	0	0	0	--	--		0	G			SERPINB7_uc002ljm.2_Missense_Mutation_p.K196E|SERPINB7_uc010xet.1_Missense_Mutation_p.K179E|SERPINB7_uc010dqg.2_Missense_Mutation_p.K196E	251	GBM-41-2572-TP	p.K196E	A	TTGCCATTTCAAATCTCCCAA	NM_001040147	NP_001035237	61465969	O75635	SPB7_HUMAN	0			6	682	+	G	G		Esophageal squamous(42;0.129)	Missense_Mutation	196						
SERPINB7	8710		GRCh37	18	61471645	61471645	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000398019.2:c.919C>T	p.Leu307Phe	p.L307F	ENST00000398019	NM_003784.3	307	Ctc/Ttc	0																																																																																																																																																																																																																																												
SERPINC1	462	broad.mit.edu	GRCh37	1	173878724	173878724	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0157-01	TCGA-06-0157-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367698.3:c.1119C>T	p.Val373=	p.V373=	ENST00000367698	NM_000488.3	373	gtC/gtT	0			1			A	V	uc001gjt.2	protein_coding	YES	CCDS1313.1			1119/1395									ovary(1)	1	c.(1117-1119)GTC>GTT			Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF53,SMART_domains:SM00093,Superfamily_domains:SSF56574	serpin peptidase inhibitor, clade C, member 1	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)			ENSP00000356671		7-May									COSM2150092	7-May	.		ENST00000367698	Transcript	1		blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	ENSG00000117601	g.chr1:173878724G>A	775			LOW								--	--	1																																			1	1			p.V373V	NM_000488	NP_000479			1	ANT3_HUMAN	SERPINC1	HGNC	P01008	ANT3_HUMAN			Q9UE54_HUMAN,Q9UBW9_HUMAN,Q8J001_HUMAN		5	1238	-			UPI000002C0C1	373					SNV	SERPINC1,synonymous_variant,p.=,ENST00000367698,NM_000488.3;SERPINC1,downstream_gene_variant,,ENST00000494024,;SERPINC1,downstream_gene_variant,,ENST00000487183,;	uc001gjt.2	c.1119C>T	1238/1594	1	1			c.1119C>T						1	SNP	c.(1117-1119)GTC>GTT	51	51			ovary(1)	1	Broad	serpin peptidase inhibitor, clade C, member 1		Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	173878724		0.527	ENSG00000117601	13889	g.chr1:173878724G>A	blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity							186.344559	KEEP	40	34	-1	45	54	40	34	-1	187.499475	45	54	0.408805	1	0	0	0	0	0	0	1	0	--	--		0	A				28	GBM-06-0157-TP	p.V373V	G	TGAACAGATCGACAAGGCCCA	NM_000488	NP_000479	173878724	P01008	ANT3_HUMAN	0			5	1238	-	A	A			Silent	373						
SERPINC1	0	broad.mit.edu	GRCh37	1	173883833	173883833	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367698.3:c.266G>A	p.Arg89His	p.R89H	ENST00000367698	NM_000488.3	89	cGc/cAc	0			1			T	R/H	uc001gjt.2	protein_coding	YES	CCDS1313.1			266/1395									ovary(1)	1	c.(265-267)CGC>CAC			Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF53,Superfamily_domains:SSF56574	serpin peptidase inhibitor, clade C, member 1	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)			ENSP00000356671		7-Feb	1.65E-05					3.00E-05			rs745583962,COSM3400011	7-Feb	.		ENST00000367698	Transcript	1		blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	ENSG00000117601	g.chr1:173883833C>T	775			MODERATE		1.05	low	getma.org/?cm=msa&ty=f&p=ANT3_HUMAN&rb=85&re=461&var=R89H	getma.org/pdb.php?prot=ANT3_HUMAN&from=85&to=461&var=R89H	getma.org/?cm=var&var=hg19,1,173883833,C,T&fts=all	R89H	--	--	1																																OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		0,1	1		benign(0.19)	p.R89H	NM_000488	NP_000479		tolerated(0.13)	0,1	ANT3_HUMAN	SERPINC1	HGNC	P01008	ANT3_HUMAN			Q9UE54_HUMAN,Q9UBW9_HUMAN,Q8J001_HUMAN		2	385	-			UPI000002C0C1	89		R -> C (in AT3D; type-I).			SNV	SERPINC1,missense_variant,p.Arg89His,ENST00000367698,NM_000488.3;SERPINC1,non_coding_transcript_exon_variant,,ENST00000494024,;SERPINC1,upstream_gene_variant,,ENST00000487183,;	uc001gjt.2	c.266G>A	385/1594	2	2			c.266G>A						1	SNP	c.(265-267)CGC>CAC	29	29			ovary(1)	1	Broad	serpin peptidase inhibitor, clade C, member 1		Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	173883833		0.532	ENSG00000117601	13889	g.chr1:173883833C>T	blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity							181.129188	KEEP	37	31	-1	36	42	37	31	-1	181.228757	36	42	0.469231	1	0	0	0	0	1	0	0	0	--	--		0	T	OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		177	GBM-19-5959-TP	p.R89H	C	GGTAGCAAAGCGGGAATTGGC	NM_000488	NP_000479	173883833	P01008	ANT3_HUMAN	0			2	385	-	T	T			Missense_Mutation	89		R -> C (in AT3D; type-I).				
SERPING1	710	broad.mit.edu	GRCh37	11	57379257	57379257	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs139000758		TCGA-06-0190-01	TCGA-06-0190-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278407.4:c.1097G>A	p.Arg366His	p.R366H	ENST00000278407	NM_000062.2	366	cGt/cAt	0	A:0.0002		1			A	R/H	uc001nkp.1	protein_coding	YES	CCDS7962.1			1097/1503									central_nervous_system(1)	1	c.(1096-1098)CGT>CAT			Gene3D:2.30.39.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF156,SMART_domains:SM00093,Superfamily_domains:SSF56574	serpin peptidase inhibitor, clade G, member 1			A:0	ENSP00000278407		8-Jul	6.59E-05			0.000347		7.49E-05			rs139000758,COSM928662	8-Jul	.	Hereditary_Angioedema	ENST00000278407	Transcript	1		blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	ENSG00000149131	g.chr11:57379257G>A	1228			MODERATE		0.405	neutral	getma.org/?cm=msa&ty=f&p=IC1_HUMAN&rb=144&re=498&var=R366H	getma.org/pdb.php?prot=IC1_HUMAN&from=144&to=498&var=R366H	getma.org/?cm=var&var=hg19,11,57379257,G,A&fts=all	R366H	--	--	1																																		SERPING1_uc001nkq.1_Intron|SERPING1_uc010rju.1_Missense_Mutation_p.R314H|SERPING1_uc010rjv.1_Missense_Mutation_p.R371H|SERPING1_uc001nkr.1_Missense_Mutation_p.R366H|SERPING1_uc009ymi.1_Missense_Mutation_p.R375H|SERPING1_uc009ymj.1_Intron|SERPING1_uc001nks.1_Missense_Mutation_p.R57H	0,1	1		benign(0.003)	p.R366H	NM_000062	NP_000053		tolerated(0.8)	0,1	IC1_HUMAN	SERPING1	HGNC	P05155	IC1_HUMAN			E9KL26_HUMAN,B5MCB9_HUMAN,B4E1H2_HUMAN		7	1288	+			UPI000000123F	366					SNV	SERPING1,missense_variant,p.Arg409His,ENST00000403558,NM_001032295.1;SERPING1,missense_variant,p.Arg366His,ENST00000278407,NM_000062.2;SERPING1,missense_variant,p.Arg314His,ENST00000378324,;SERPING1,missense_variant,p.Arg371His,ENST00000378323,;SERPING1,intron_variant,,ENST00000340687,;SERPING1,3_prime_UTR_variant,,ENST00000531133,;SERPING1,3_prime_UTR_variant,,ENST00000528996,;SERPING1,3_prime_UTR_variant,,ENST00000531797,;SERPING1,non_coding_transcript_exon_variant,,ENST00000530113,;	uc001nkp.1	c.1097G>A	1324/2002	1	1			c.1097G>A						11	SNP	c.(1096-1098)CGT>CAT	50	50			central_nervous_system(1)	1	Broad	serpin peptidase inhibitor, clade G, member 1			57379257	Hereditary_Angioedema	0.493	ENSG00000149131	13896	g.chr11:57379257G>A	blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity							216.373505	KEEP	37	40	-1	58	60	37	40	-1	217.597777	58	60	0.411111	1	0	0	0	0	1	0	0	0	--	--		0	A			SERPING1_uc001nkq.1_Intron|SERPING1_uc010rju.1_Missense_Mutation_p.R314H|SERPING1_uc010rjv.1_Missense_Mutation_p.R371H|SERPING1_uc001nkr.1_Missense_Mutation_p.R366H|SERPING1_uc009ymi.1_Missense_Mutation_p.R375H|SERPING1_uc009ymj.1_Intron|SERPING1_uc001nks.1_Missense_Mutation_p.R57H	43	GBM-06-0190-TP	p.R366H	G	CTGAAACATCGTCTTGAAGAC	NM_000062	NP_000053	57379257	P05155	IC1_HUMAN	0			7	1288	+	A	A			Missense_Mutation	366						
SERPING1	710		GRCh37	11	57365774	57365776	+	inframe_deletion	In_Frame_Del	DEL	CTG	CTG	-			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000278407.4:c.43_45del	p.Leu15del	p.L15del	ENST00000278407	NM_000062.2	11	CTG/-	0																																																																																																																																																																																																																																												
SERPINI1	0	broad.mit.edu	GRCh37	3	167508226	167508226	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-5222-01	TCGA-32-5222-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295777.5:c.317T>C	p.Met106Thr	p.M106T	ENST00000295777	NM_005025.4	106	aTg/aCg	0			1			C	M/T	uc003ffa.3	protein_coding	YES	CCDS3203.1			317/1233									skin(1)	1	c.(316-318)ATG>ACG			Superfamily_domains:SSF56574,SMART_domains:SM00093,Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461:SF50,hmmpanther:PTHR11461	neuroserpin precursor				ENSP00000295777		9-Mar									COSM3408405	9-Mar	.		ENST00000295777	Transcript	1		central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	ENSG00000163536	g.chr3:167508226T>C	8943			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=NEUS_HUMAN&rb=24&re=397&var=M106T	getma.org/pdb.php?prot=NEUS_HUMAN&from=24&to=397&var=M106T	getma.org/?cm=var&var=hg19,3,167508226,T,C&fts=all	M106T	--	--	1																																		SERPINI1_uc003ffb.3_Missense_Mutation_p.M106T	1	1		possibly_damaging(0.5)	p.M106T	NM_001122752	NP_001116224		deleterious(0.01)	1	NEUS_HUMAN	SERPINI1	HGNC	Q99574	NEUS_HUMAN			C9JQU8_HUMAN,C9JDY5_HUMAN		3	515	+			UPI000002FBA4	106					SNV	SERPINI1,missense_variant,p.Met106Thr,ENST00000295777,NM_005025.4;SERPINI1,missense_variant,p.Met106Thr,ENST00000446050,NM_001122752.1;SERPINI1,missense_variant,p.Met106Thr,ENST00000472747,;SERPINI1,missense_variant,p.Met106Thr,ENST00000472941,;	uc003ffa.3	c.317T>C	748/1907	3	3			c.317T>C						3	SNP	c.(316-318)ATG>ACG	53	53			skin(1)	1	Broad	neuroserpin precursor			167508226		0.318	ENSG00000163536	13898	g.chr3:167508226T>C	central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity							250.022465	KEEP	54	43	-1	63	87	54	43	-1	252.54972	63	87	0.382775	1	0	0	0	0	1	0	0	0	--	--		0	C			SERPINI1_uc003ffb.3_Missense_Mutation_p.M106T	249	GBM-32-5222-TP	p.M106T	T	CAATATGTGATGAAAATTGCC	NM_001122752	NP_001116224	167508226	Q99574	NEUS_HUMAN	0			3	515	+	C	C			Missense_Mutation	106						
SERPINI1	5274		GRCh37	3	167525043	167525043	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000295777.5:c.893A>C	p.Glu298Ala	p.E298A	ENST00000295777	NM_005025.4	298	gAa/gCa	0																																																																																																																																																																																																																																												
SERTAD2	0	broad.mit.edu	GRCh37	2	64863694	64863694	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4931-01	TCGA-76-4931-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313349.3:c.312G>A	p.Pro104=	p.P104=	ENST00000313349	NM_014755.2	104	ccG/ccA	0			1			T	P	uc002sde.1	protein_coding	YES	CCDS33210.1			312/945										0	c.(310-312)CCG>CCA			hmmpanther:PTHR16277,hmmpanther:PTHR16277:SF10	SERTA domain containing 2				ENSP00000326933		2-Feb	4.12E-05			0.000117		3.08E-05		0.00015	rs201985620,COSM3407930	2-Feb	.		ENST00000313349	Transcript			negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus		ENSG00000179833	g.chr2:64863694C>T	30784			LOW								--	--	1																																			0,1	1			p.P104P	NM_014755	NP_055570			0,1	SRTD2_HUMAN	SERTAD2	HGNC	Q14140	SRTD2_HUMAN					2	609	-			UPI000004EC6D	104					SNV	SERTAD2,synonymous_variant,p.=,ENST00000313349,NM_014755.2;SERTAD2,non_coding_transcript_exon_variant,,ENST00000476805,;	uc002sde.1	c.312G>A	610/5549	2	2			c.312G>A						2	SNP	c.(310-312)CCG>CCA	30	30				0	Broad	SERTA domain containing 2			64863694		0.697	ENSG00000179833	13901	g.chr2:64863694C>T	negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus								93.427051	KEEP	19	17	-1	13	19	19	17	-1	93.522475	13	19	0.54386	1	0	0	0	0	0	0	1	0	--	--		0	T				270	GBM-76-4931-TP	p.P104P	C	TGAAGGCCGGCGGGGCCTCTC	NM_014755	NP_055570	64863694	Q14140	SRTD2_HUMAN	0			2	609	-	T	T			Silent	104						
SESN3	0	broad.mit.edu	GRCh37	11	94924753	94924756	+	frameshift_variant	Frame_Shift_Del	DEL	TTGC	TTGC	-			TCGA-28-5218-01	TCGA-28-5218-01	TTGC	TTGC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000536441.1:c.154_157delGCAA	p.Ala52ThrfsTer27	p.A52Tfs*27	ENST00000536441	NM_144665.3	52	GCAAac/ac	0			1			-	AN/X	uc001pfk.1	protein_coding	YES	CCDS8303.1			154-157/1479										0	c.(154-159)GCAAACfs			hmmpanther:PTHR12474:SF4,hmmpanther:PTHR12474,Pfam_domain:PF04636	sestrin 3				ENSP00000441927		10-Mar										10-Mar	.		ENST00000536441	Transcript			cell cycle arrest	nucleus		ENSG00000149212	g.chr11:94924753_94924756delTTGC	23060			HIGH								--	--	1																																		SESN3_uc010rug.1_5'UTR|SESN3_uc001pfl.2_Frame_Shift_Del_p.A52fs		1			p.A52fs	NM_144665	NP_653266				SESN3_HUMAN	SESN3	HGNC	P58005	SESN3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.234)			3	376_379	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	UPI0000135891	52_53					deletion	SESN3,frameshift_variant,p.Ala52ThrfsTer27,ENST00000536441,NM_144665.3;SESN3,frameshift_variant,p.Ala52ThrfsTer27,ENST00000416495,;SESN3,frameshift_variant,p.Ala52ThrfsTer27,ENST00000393234,;SESN3,frameshift_variant,p.Ala29ThrfsTer27,ENST00000542176,;SESN3,5_prime_UTR_variant,,ENST00000278499,NM_001271594.1;RP11-712B9.2,intron_variant,,ENST00000534891,;RP11-712B9.2,intron_variant,,ENST00000534864,;SESN3,non_coding_transcript_exon_variant,,ENST00000537480,;	uc001pfk.1	c.154_157delGCAA	491-494/9531	5	5			c.154_157delGCAA						11	DEL	c.(154-159)GCAAACfs	14	14				0	Broad	sestrin 3			94924756		0.368	ENSG00000149212	13906	g.chr11:94924753_94924756delTTGC	cell cycle arrest	nucleus																					0.55	1	1	0	1	0	0	0	0	0	--	--		0	-			SESN3_uc010rug.1_5'UTR|SESN3_uc001pfl.2_Frame_Shift_Del_p.A52fs	224	GBM-28-5218-TP	p.A52fs	TTGC	TCCACTGTGTTTGCTTGGACAACC	NM_144665	NP_653266	94924753	P58005	SESN3_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;0.234)	3	376_379	-	-	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	Frame_Shift_Del	52_53						
SESTD1	0	broad.mit.edu	GRCh37	2	180014058	180014058	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-28-2509-01	TCGA-28-2509-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428443.3:c.547G>T	p.Gly183Ter	p.G183*	ENST00000428443	NM_178123.4	183	Gga/Tga	0			1			A	G/*	uc002uni.3	protein_coding	YES	CCDS33338.1			547/2091									ovary(1)	1	c.(547-549)GGA>TGA			hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF19	SEC14 and spectrin domains 1				ENSP00000415332		18-Jul									COSM3407371	18-Jul	.		ENST00000428443	Transcript			regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	ENSG00000187231	g.chr2:180014058C>A	18379			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,180014058,C,A&fts=all	G183*	--	--	1																																			1	1			p.G183*	NM_178123	NP_835224			1	SESD1_HUMAN	SESTD1	HGNC	Q86VW0	SESD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)		Q7Z6D3_HUMAN,C9JHW6_HUMAN,C9J4X8_HUMAN		7	697	-			UPI0000043424	183					SNV	SESTD1,stop_gained,p.Gly183Ter,ENST00000428443,NM_178123.4;SESTD1,downstream_gene_variant,,ENST00000435047,;SESTD1,downstream_gene_variant,,ENST00000440010,;SESTD1,stop_gained,p.Gly18Ter,ENST00000335289,;SESTD1,upstream_gene_variant,,ENST00000426988,;SESTD1,upstream_gene_variant,,ENST00000489901,;	uc002uni.3	c.547G>T	864/10615	5	2			c.547G>T						2	SNP	c.(547-549)GGA>TGA	20	20			ovary(1)	1	Broad	SEC14 and spectrin domains 1			180014058		0.308	ENSG00000187231	13907	g.chr2:180014058C>A	regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding							-6.229463	KEEP	2	1	0.333333333	38	31	2	1	0.333333333	6.66101	38	31	0.05	1	0	0	0	0	0	1	0	0	--	--		0	A				211	GBM-28-2509-TP	p.G183*	C	TTATCACTTCCATTGTTAATC	NM_178123	NP_835224	180014058	Q86VW0	SESD1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)		7	697	-	A	A			Nonsense_Mutation	183						
SETBP1	26040	broad.mit.edu	GRCh37	18	42530935	42530935	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0211-01	TCGA-06-0211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282030.5:c.1630C>T	p.Arg544Ter	p.R544*	ENST00000282030	NM_015559.2	544	Cga/Tga	0			1			T	R/*	uc010dni.2	protein_coding	YES	CCDS11923.2			1630/4791									upper_aerodigestive_tract(2)|large_intestine(1)	3	c.(1630-1632)CGA>TGA			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF322	SET binding protein 1 isoform a				ENSP00000282030		6-Apr									COSM2150785	6-Apr	.	Schinzel-Giedion_syndrome	ENST00000282030	Transcript	1			nucleus	DNA binding	ENSG00000152217	g.chr18:42530935C>T	15573			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,18,42530935,C,T&fts=all	R544*	--	--	1																																			1	1			p.R544*	NM_015559	NP_056374			1	SETBP_HUMAN	SETBP1	HGNC	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	K7ES17_HUMAN		4	1926	+			UPI0000201C54	544					SNV	SETBP1,stop_gained,p.Arg544Ter,ENST00000282030,NM_015559.2;	uc010dni.2	c.1630C>T	1926/9899	5	2			c.1630C>T						18	SNP	c.(1630-1632)CGA>TGA	25	25			upper_aerodigestive_tract(2)|large_intestine(1)	3	Broad	SET binding protein 1 isoform a			42530935	Schinzel-Giedion_syndrome	0.507	ENSG00000152217	13909	g.chr18:42530935C>T		nucleus	DNA binding							340.929865	KEEP	67	80	-1	130	129	67	80	-1	344.633178	130	129	0.382353	1	0	0	0	0	0	1	0	0	--	--		0	T				48	GBM-06-0211-TP	p.R544*	C	CACCATGCTTCGAGAGGCAGT	NM_015559	NP_056374	42530935	Q9Y6X0	SETBP_HUMAN	0		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	1926	+	T	T			Nonsense_Mutation	544						
SETBP1	26040	broad.mit.edu	GRCh37	18	42530386	42530386	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs146321232		TCGA-06-0882-01	TCGA-06-0882-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282030.5:c.1081G>T	p.Ala361Ser	p.A361S	ENST00000282030	NM_015559.2	361	Gca/Tca	0	T:0.0002		1			T	A/S	uc010dni.2	protein_coding	YES	CCDS11923.2			1081/4791									upper_aerodigestive_tract(2)|large_intestine(1)	3	c.(1081-1083)GCA>TCA			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF322	SET binding protein 1 isoform a			T:0	ENSP00000282030		6-Apr	8.24E-06	0.0001							rs146321232,COSM3403536	6-Apr	.	Schinzel-Giedion_syndrome	ENST00000282030	Transcript	1			nucleus	DNA binding	ENSG00000152217	g.chr18:42530386G>T	15573			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=SETBP_HUMAN&rb=201&re=400&var=A361S	NA	getma.org/?cm=var&var=hg19,18,42530386,G,T&fts=all	A361S	--	--	1																																			0,1	1		benign(0.014)	p.A361S	NM_015559	NP_056374		tolerated(0.16)	0,1	SETBP_HUMAN	SETBP1	HGNC	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	K7ES17_HUMAN		4	1377	+			UPI0000201C54	361					SNV	SETBP1,missense_variant,p.Ala361Ser,ENST00000282030,NM_015559.2;	uc010dni.2	c.1081G>T	1377/9899	2	2			c.1081G>T						18	SNP	c.(1081-1083)GCA>TCA	21	21			upper_aerodigestive_tract(2)|large_intestine(1)	3	Broad	SET binding protein 1 isoform a			42530386	Schinzel-Giedion_syndrome	0.478	ENSG00000152217	13909	g.chr18:42530386G>T		nucleus	DNA binding							46.60809	KEEP	10	15	0.4	62	57	10	15	0.4	60.682373	62	57	0.172662	1	0	0	0	0	1	0	0	0	--	--		0	T				77	GBM-06-0882-TP	p.A361S	G	TGCCCAGAAAGCATTTGACAA	NM_015559	NP_056374	42530386	Q9Y6X0	SETBP_HUMAN	0		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	1377	+	T	T			Missense_Mutation	361						
SETBP1	0	broad.mit.edu	GRCh37	18	42643234	42643234	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-1034-01	TCGA-14-1034-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282030.5:c.4362C>T	p.Arg1454=	p.R1454=	ENST00000282030	NM_015559.2	1454	cgC/cgT	0			1			T	R	uc010dni.2	protein_coding	YES	CCDS11923.2			4362/4791									upper_aerodigestive_tract(2)|large_intestine(1)	3	c.(4360-4362)CGC>CGT			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF322,SMART_domains:SM00384	SET binding protein 1 isoform a				ENSP00000282030		6-Jun									COSM2155236	6-Jun	.	Schinzel-Giedion_syndrome	ENST00000282030	Transcript	1			nucleus	DNA binding	ENSG00000152217	g.chr18:42643234C>T	15573			LOW								--	--	1																																			1	1			p.R1454R	NM_015559	NP_056374			1	SETBP_HUMAN	SETBP1	HGNC	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	K7ES17_HUMAN		6	4658	+			UPI0000201C54	1454			A.T hook 3.		SNV	SETBP1,synonymous_variant,p.=,ENST00000282030,NM_015559.2;	uc010dni.2	c.4362C>T	4658/9899	1	1			c.4362C>T						18	SNP	c.(4360-4362)CGC>CGT	14	14			upper_aerodigestive_tract(2)|large_intestine(1)	3	Broad	SET binding protein 1 isoform a			42643234	Schinzel-Giedion_syndrome	0.552	ENSG00000152217	13909	g.chr18:42643234C>T		nucleus	DNA binding							29.077957	KEEP	3	6	-1	5	5	3	6	-1	29.077957	5	5	0.5	1	0	0	0	0	0	0	1	0	--	--		0	T				142	GBM-14-1034-TP	p.R1454R	C	AGAAGAGGCGCGGGCGTCCCA	NM_015559	NP_056374	42643234	Q9Y6X0	SETBP_HUMAN	0		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	6	4658	+	T	T			Silent	1454			A.T hook 3.			
SETBP1	0	broad.mit.edu	GRCh37	18	42529847	42529847	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-2638-01	TCGA-32-2638-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282030.5:c.542C>G	p.Ala181Gly	p.A181G	ENST00000282030	NM_015559.2	181	gCt/gGt	0			1			G	A/G	uc010dni.2	protein_coding	YES	CCDS11923.2			542/4791									upper_aerodigestive_tract(2)|large_intestine(1)	3	c.(541-543)GCT>GGT			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF322	SET binding protein 1 isoform a				ENSP00000282030		6-Apr									COSM3403535	6-Apr	.	Schinzel-Giedion_syndrome	ENST00000282030	Transcript	1			nucleus	DNA binding	ENSG00000152217	g.chr18:42529847C>G	15573			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=SETBP_HUMAN&rb=1&re=200&var=A181G	NA	getma.org/?cm=var&var=hg19,18,42529847,C,G&fts=all	A181G	--	--	1																																			1	1		possibly_damaging(0.527)	p.A181G	NM_015559	NP_056374		tolerated(0.11)	1	SETBP_HUMAN	SETBP1	HGNC	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	K7ES17_HUMAN		4	838	+			UPI0000201C54	181					SNV	SETBP1,missense_variant,p.Ala181Gly,ENST00000282030,NM_015559.2;	uc010dni.2	c.542C>G	838/9899	3	3			c.542C>G						18	SNP	c.(541-543)GCT>GGT	15	15			upper_aerodigestive_tract(2)|large_intestine(1)	3	Broad	SET binding protein 1 isoform a			42529847	Schinzel-Giedion_syndrome	0.398	ENSG00000152217	13909	g.chr18:42529847C>G		nucleus	DNA binding							75.941455	KEEP	15	8	-1	16	16	15	8	-1	76.209994	16	16	0.423077	1	0	0	0	0	1	0	0	0	--	--		0	G				242	GBM-32-2638-TP	p.A181G	C	CACCCTTAGGCTTACGAGAGG	NM_015559	NP_056374	42529847	Q9Y6X0	SETBP_HUMAN	0		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	838	+	G	G			Missense_Mutation	181						
SETBP1	0	broad.mit.edu	GRCh37	18	42532158	42532158	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-81-5910-01	TCGA-81-5910-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282030.5:c.2853C>T	p.Leu951=	p.L951=	ENST00000282030	NM_015559.2	951	ctC/ctT	0			1			T	L	uc010dni.2	protein_coding	YES	CCDS11923.2			2853/4791									upper_aerodigestive_tract(2)|large_intestine(1)	3	c.(2851-2853)CTC>CTT			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF322	SET binding protein 1 isoform a				ENSP00000282030		6-Apr									COSM3403537	6-Apr	.	Schinzel-Giedion_syndrome	ENST00000282030	Transcript	1			nucleus	DNA binding	ENSG00000152217	g.chr18:42532158C>T	15573			LOW								--	--	1																																			1	1			p.L951L	NM_015559	NP_056374			1	SETBP_HUMAN	SETBP1	HGNC	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	K7ES17_HUMAN		4	3149	+			UPI0000201C54	951					SNV	SETBP1,synonymous_variant,p.=,ENST00000282030,NM_015559.2;	uc010dni.2	c.2853C>T	3149/9899	2	2			c.2853C>T						18	SNP	c.(2851-2853)CTC>CTT	17	17			upper_aerodigestive_tract(2)|large_intestine(1)	3	Broad	SET binding protein 1 isoform a			42532158	Schinzel-Giedion_syndrome	0.502	ENSG00000152217	13909	g.chr18:42532158C>T		nucleus	DNA binding							101.999336	KEEP	13	22	-1	19	14	13	22	-1	102.002753	19	14	0.507937	1	0	0	0	0	0	0	1	0	--	--		0	T				289	GBM-81-5910-TP	p.L951L	C	GCGATGACCTCCAGTTTCTGG	NM_015559	NP_056374	42532158	Q9Y6X0	SETBP_HUMAN	0		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	3149	+	T	T			Silent	951						
SETD1A	9739	broad.mit.edu	GRCh37	16	30970183	30970183	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5413-01	TCGA-06-5413-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262519.8:c.131G>A	p.Gly44Glu	p.G44E	ENST00000262519	NM_014712.1	44	gGa/gAa	0			1			A	G/E	uc002ead.1	protein_coding	YES	CCDS32435.1			131/5124									ovary(2)|skin(1)	3	c.(130-132)GGA>GAA			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF295	SET domain containing 1A				ENSP00000262519		19-Feb									COSM2153183	19-Feb	.		ENST00000262519	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	ENSG00000099381	g.chr16:30970183G>A	29010			MODERATE		2.47	medium	getma.org/?cm=msa&ty=f&p=SET1A_HUMAN&rb=1&re=98&var=G44E	NA	getma.org/?cm=var&var=hg19,16,30970183,G,A&fts=all	G44E	--	--	1																																		SETD1A_uc002eae.1_Missense_Mutation_p.G44E	1	1		probably_damaging(0.999)	p.G44E	NM_014712	NP_055527			1	SET1A_HUMAN	SETD1A	HGNC	O15047	SET1A_HUMAN			C9J2Z9_HUMAN		2	817	+			UPI00001C1FA9	44					SNV	SETD1A,missense_variant,p.Gly44Glu,ENST00000262519,NM_014712.1;SETD1A,missense_variant,p.Gly44Glu,ENST00000452917,;ORAI3,downstream_gene_variant,,ENST00000318663,NM_152288.2;ORAI3,downstream_gene_variant,,ENST00000566237,;ORAI3,downstream_gene_variant,,ENST00000562699,;AC135048.13,downstream_gene_variant,,ENST00000566056,;AC135048.13,downstream_gene_variant,,ENST00000562642,;	uc002ead.1	c.131G>A	817/6903	2	2			c.131G>A						16	SNP	c.(130-132)GGA>GAA	21	21			ovary(2)|skin(1)	3	Broad	SET domain containing 1A			30970183		0.597	ENSG00000099381	13910	g.chr16:30970183G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding							82.642425	KEEP	11	25	-1	51	44	11	25	-1	88.381258	51	44	0.268908	1	0	0	0	0	1	0	0	0	--	--		0	A			SETD1A_uc002eae.1_Missense_Mutation_p.G44E	96	GBM-06-5413-TP	p.G44E	G	CGCTATGATGGAGTCCACTTC	NM_014712	NP_055527	30970183	O15047	SET1A_HUMAN	0			2	817	+	A	A			Missense_Mutation	44						
SETD1A	0	broad.mit.edu	GRCh37	16	30976386	30976386	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-27-2523-01	TCGA-27-2523-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262519.8:c.1323T>C	p.Gly441=	p.G441=	ENST00000262519	NM_014712.1	441	ggT/ggC	0			1			C	G	uc002ead.1	protein_coding	YES	CCDS32435.1			1323/5124									ovary(2)|skin(1)	3	c.(1321-1323)GGT>GGC			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF295,Low_complexity_(Seg):seg	SET domain containing 1A				ENSP00000262519		19-Jul									COSM3402286	19-Jul	.		ENST00000262519	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	ENSG00000099381	g.chr16:30976386T>C	29010			LOW								--	--	1																																			1	1			p.G441G	NM_014712	NP_055527			1	SET1A_HUMAN	SETD1A	HGNC	O15047	SET1A_HUMAN			C9J2Z9_HUMAN		7	2009	+			UPI00001C1FA9	441			Pro-rich.		SNV	SETD1A,synonymous_variant,p.=,ENST00000262519,NM_014712.1;SETD1A,downstream_gene_variant,,ENST00000452917,;	uc002ead.1	c.1323T>C	2009/6903	3	3			c.1323T>C						16	SNP	c.(1321-1323)GGT>GGC	11	11			ovary(2)|skin(1)	3	Broad	SET domain containing 1A			30976386		0.716	ENSG00000099381	13910	g.chr16:30976386T>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding							60.366648	KEEP	11	22	-1	23	17	11	22	-1	60.645341	23	17	0.42	1	0	0	0	0	0	0	1	0	--	--		0	C				201	GBM-27-2523-TP	p.G441G	T	CAGAACCTGGTGGAGGCGGGG	NM_014712	NP_055527	30976386	O15047	SET1A_HUMAN	0			7	2009	+	C	C			Silent	441			Pro-rich.			
SETD1A	0	broad.mit.edu	GRCh37	16	30977133	30977133	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-28-2502-01	TCGA-28-2502-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262519.8:c.1931C>G	p.Pro644Arg	p.P644R	ENST00000262519	NM_014712.1	644	cCt/cGt	0			1			G	P/R	uc002ead.1	protein_coding	YES	CCDS32435.1			1931/5124									ovary(2)|skin(1)	3	c.(1930-1932)CCT>CGT			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF295,Low_complexity_(Seg):seg	SET domain containing 1A				ENSP00000262519		19-Aug									COSM3402287	19-Aug	.		ENST00000262519	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	ENSG00000099381	g.chr16:30977133C>G	29010			MODERATE		1.385	low	getma.org/?cm=msa&ty=f&p=SET1A_HUMAN&rb=567&re=766&var=P644R	NA	getma.org/?cm=var&var=hg19,16,30977133,C,G&fts=all	P644R	--	--	1																																			1	1		probably_damaging(0.937)	p.P644R	NM_014712	NP_055527			1	SET1A_HUMAN	SETD1A	HGNC	O15047	SET1A_HUMAN			C9J2Z9_HUMAN		8	2617	+			UPI00001C1FA9	644			Pro-rich.		SNV	SETD1A,missense_variant,p.Pro644Arg,ENST00000262519,NM_014712.1;SETD1A,downstream_gene_variant,,ENST00000452917,;	uc002ead.1	c.1931C>G	2617/6903	3	3			c.1931C>G						16	SNP	c.(1930-1932)CCT>CGT	54	54			ovary(2)|skin(1)	3	Broad	SET domain containing 1A			30977133		0.577	ENSG00000099381	13910	g.chr16:30977133C>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding							42.949376	KEEP	6	13	-1	26	16	6	13	-1	45.02558	26	16	0.298246	1	0	0	0	0	1	0	0	0	--	--		0	G				210	GBM-28-2502-TP	p.P644R	C	CCGCCGCCCCCTGAGTACCCC	NM_014712	NP_055527	30977133	O15047	SET1A_HUMAN	0			8	2617	+	G	G			Missense_Mutation	644			Pro-rich.			
SETD1A	0	broad.mit.edu	GRCh37	16	30975479	30975479	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01	TCGA-32-2495-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262519.8:c.704G>A	p.Gly235Asp	p.G235D	ENST00000262519	NM_014712.1	235	gGc/gAc	0			1			A	G/D	uc002ead.1	protein_coding	YES	CCDS32435.1			704/5124									ovary(2)|skin(1)	3	c.(703-705)GGC>GAC			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF295	SET domain containing 1A				ENSP00000262519		19-Jun									COSM3402285	19-Jun	.		ENST00000262519	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	ENSG00000099381	g.chr16:30975479G>A	29010			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=SET1A_HUMAN&rb=167&re=366&var=G235D	NA	getma.org/?cm=var&var=hg19,16,30975479,G,A&fts=all	G235D	--	--	1																																		SETD1A_uc002eae.1_Missense_Mutation_p.G235D	1	1		possibly_damaging(0.622)	p.G235D	NM_014712	NP_055527			1	SET1A_HUMAN	SETD1A	HGNC	O15047	SET1A_HUMAN			C9J2Z9_HUMAN		6	1390	+			UPI00001C1FA9	235					SNV	SETD1A,missense_variant,p.Gly235Asp,ENST00000262519,NM_014712.1;SETD1A,missense_variant,p.Gly235Asp,ENST00000452917,;	uc002ead.1	c.704G>A	1390/6903	2	2			c.704G>A						16	SNP	c.(703-705)GGC>GAC	41	41			ovary(2)|skin(1)	3	Broad	SET domain containing 1A			30975479		0.627	ENSG00000099381	13910	g.chr16:30975479G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding							-25.275677	KEEP	4	0	-1	82	82	4	0	-1	7.112176	82	82	0.029851	1	0	0	0	0	1	0	0	0	--	--		0	A			SETD1A_uc002eae.1_Missense_Mutation_p.G235D	237	GBM-32-2495-TP	p.G235D	G	ACTGCGGTGGGCACTCCTGGC	NM_014712	NP_055527	30975479	O15047	SET1A_HUMAN	0			6	1390	+	A	A			Missense_Mutation	235						
SETD2	29072	broad.mit.edu	GRCh37	3	47058654	47058654	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0211-01	TCGA-06-0211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409792.3:c.7624G>A	p.Glu2542Lys	p.E2542K	ENST00000409792	NM_014159.6	2542	Gag/Aag	0			1			T	E/K	uc003cqs.2	protein_coding	YES	CCDS2749.2			7624/7695	N|F|S|Mis				clear cell renal carcinoma				kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32	c.(7624-7626)GAG>AAG			Pfam_domain:PF08236	SET domain containing 2				ENSP00000386759		21/21									COSM2150737,COSM2150736	21/21	.		ENST00000409792	Transcript	1		regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	ENSG00000181555	g.chr3:47058654C>T	18420			MODERATE		2.005	medium	getma.org/?cm=msa&ty=f&p=SETD2_HUMAN&rb=2465&re=2559&var=E2542K	getma.org/pdb.php?prot=SETD2_HUMAN&from=2465&to=2559&var=E2542K	getma.org/?cm=var&var=hg19,3,47058654,C,T&fts=all	E2542K	--	--	1																																		SETD2_uc003cqv.2_Missense_Mutation_p.E2609K|SETD2_uc003cqr.2_Missense_Mutation_p.E141K	1,1	1		probably_damaging(0.995)	p.E2542K	NM_014159	NP_054878		deleterious(0.02)	1,1	SETD2_HUMAN	SETD2	HGNC	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	C9JG86_HUMAN		21	7677	-		Acute lymphoblastic leukemia(5;0.0169)	UPI00017E10FB	2542			Interaction with POLR2A.		SNV	SETD2,missense_variant,p.Glu2542Lys,ENST00000409792,NM_014159.6;SETD2,3_prime_UTR_variant,,ENST00000330022,;SETD2,3_prime_UTR_variant,,ENST00000431180,;SETD2,3_prime_UTR_variant,,ENST00000445387,;NRADDP,downstream_gene_variant,,ENST00000437305,;	uc003cqs.2	c.7624G>A	7667/8142	2	2			c.7624G>A	N|F|S|Mis				clear cell renal carcinoma	3	SNP	c.(7624-7626)GAG>AAG	18	18			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32	Broad	SET domain containing 2			47058654		0.473	ENSG00000181555	13911	g.chr3:47058654C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding							233.352901	KEEP	30	50	-1	35	45	30	50	-1	233.366536	35	45	0.510345	1	0	0	0	0	1	0	0	0	--	--		0	T			SETD2_uc003cqv.2_Missense_Mutation_p.E2609K|SETD2_uc003cqr.2_Missense_Mutation_p.E141K	48	GBM-06-0211-TP	p.E2542K	C	TTAATGTACTCCTTGGTTTTG	NM_014159	NP_054878	47058654	Q9BYW2	SETD2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	21	7677	-	T	T		Acute lymphoblastic leukemia(5;0.0169)	Missense_Mutation	2542			Interaction with POLR2A.			
SETD2	29072	broad.mit.edu	GRCh37	3	47161747	47161747	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0221-01	TCGA-06-0221-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409792.3:c.4379G>A	p.Trp1460Ter	p.W1460*	ENST00000409792	NM_014159.6	1460	tGg/tAg	0			1			T	W/*	uc003cqs.2	protein_coding	YES	CCDS2749.2			4379/7695	N|F|S|Mis				clear cell renal carcinoma				kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32	c.(4378-4380)TGG>TAG			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF294	SET domain containing 2				ENSP00000386759		21-Mar									COSM3408709,COSM3408708	21-Mar	.		ENST00000409792	Transcript	1		regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	ENSG00000181555	g.chr3:47161747C>T	18420			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,3,47161747,C,T&fts=all	W1460*	--	--	1																																		SETD2_uc003cqv.2_Nonsense_Mutation_p.W1449*	1,1	1			p.W1460*	NM_014159	NP_054878			1,1	SETD2_HUMAN	SETD2	HGNC	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	C9JG86_HUMAN		3	4432	-		Acute lymphoblastic leukemia(5;0.0169)	UPI00017E10FB	1460					SNV	SETD2,stop_gained,p.Trp1460Ter,ENST00000409792,NM_014159.6;SETD2,downstream_gene_variant,,ENST00000412450,;SETD2,stop_gained,p.Trp1332Ter,ENST00000330022,;SETD2,stop_gained,p.Trp1178Ter,ENST00000431180,;SETD2,stop_gained,p.Trp1094Ter,ENST00000445387,;	uc003cqs.2	c.4379G>A	4422/8142	5	2			c.4379G>A	N|F|S|Mis				clear cell renal carcinoma	3	SNP	c.(4378-4380)TGG>TAG	21	21			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32	Broad	SET domain containing 2			47161747		0.448	ENSG00000181555	13911	g.chr3:47161747C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding							-31.308042	KEEP	5	2	-1	103	99	5	2	-1	12.020191	103	99	0.032967	1	0	0	0	0	0	1	0	0	--	--		0	T			SETD2_uc003cqv.2_Nonsense_Mutation_p.W1449*	53	GBM-06-0221-TP	p.W1460*	C	ACATTCCTTCCATCGCTGTGG	NM_014159	NP_054878	47161747	Q9BYW2	SETD2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	4432	-	T	T		Acute lymphoblastic leukemia(5;0.0169)	Nonsense_Mutation	1460						
SETD2	0	broad.mit.edu	GRCh37	3	47147485	47147485	+	splice_donor_variant	Splice_Site	SNP	A	A	G			TCGA-26-5134-01	TCGA-26-5134-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409792.3:c.4839+2T>C		p.X1613_splice	ENST00000409792	NM_014159.6			0			1			G		uc003cqs.2	protein_coding	YES	CCDS2749.2			4839/7695	N|F|S|Mis				clear cell renal carcinoma				kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32	c.e6+1				SET domain containing 2				ENSP00000386759											COSM2157022,COSM2157021		.		ENST00000409792	Transcript	1		regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	ENSG00000181555	g.chr3:47147485A>G	18420			HIGH	20-Jun							--	--	1																																		SETD2_uc003cqv.2_Splice_Site_p.E1602_splice	1,1	1			p.E1613_splice	NM_014159	NP_054878			1,1	SETD2_HUMAN	SETD2	HGNC	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	C9JG86_HUMAN		6	4892	-		Acute lymphoblastic leukemia(5;0.0169)	UPI00017E10FB						SNV	SETD2,splice_donor_variant,,ENST00000409792,NM_014159.6;SETD2,splice_donor_variant,,ENST00000445387,;SETD2,intron_variant,,ENST00000330022,;SETD2,intron_variant,,ENST00000431180,;	uc003cqs.2	c.4839_splice	-/8142	5	4			c.4839_splice	N|F|S|Mis				clear cell renal carcinoma	3	SNP	c.e6+1	18	18			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32	Broad	SET domain containing 2			47147485		0.338	ENSG00000181555	13911	g.chr3:47147485A>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding							368.473689	KEEP	56	65	-1	83	117	56	65	-1	371.878923	83	117	0.382143	1	0	0	0	0	0	0	0	1	--	--		0	G			SETD2_uc003cqv.2_Splice_Site_p.E1602_splice	183	GBM-26-5134-TP	p.E1613_splice	A	CAAGCTGCTTACCTCATCATT	NM_014159	NP_054878	47147485	Q9BYW2	SETD2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	6	4892	-	G	G		Acute lymphoblastic leukemia(5;0.0169)	Splice_Site							
SETD2	0	broad.mit.edu	GRCh37	3	47098909	47098909	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01	TCGA-28-5208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409792.3:c.6365G>A	p.Arg2122Gln	p.R2122Q	ENST00000409792	NM_014159.6	2122	cGg/cAg	0			1			T	R/Q	uc003cqs.2	protein_coding	YES	CCDS2749.2			6365/7695	N|F|S|Mis				clear cell renal carcinoma				kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32	c.(6364-6366)CGG>CAG			Coiled-coils_(Ncoils):Coil	SET domain containing 2				ENSP00000386759		15/21									COSM3408705,COSM3408704	15/21	.		ENST00000409792	Transcript	1		regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	ENSG00000181555	g.chr3:47098909C>T	18420			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=SETD2_HUMAN&rb=1810&re=2390&var=R2122Q	NA	getma.org/?cm=var&var=hg19,3,47098909,C,T&fts=all	R2122Q	--	--	1																																		SETD2_uc003cqv.2_Missense_Mutation_p.R2189Q|SETD2_uc003cqt.1_RNA	1,1	1		probably_damaging(0.994)	p.R2122Q	NM_014159	NP_054878		deleterious(0)	1,1	SETD2_HUMAN	SETD2	HGNC	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	C9JG86_HUMAN		15	6418	-		Acute lymphoblastic leukemia(5;0.0169)	UPI00017E10FB	2122			Potential.		SNV	SETD2,missense_variant,p.Arg2122Gln,ENST00000409792,NM_014159.6;SETD2,downstream_gene_variant,,ENST00000492397,;SETD2,3_prime_UTR_variant,,ENST00000330022,;SETD2,3_prime_UTR_variant,,ENST00000431180,;SETD2,3_prime_UTR_variant,,ENST00000445387,;	uc003cqs.2	c.6365G>A	6408/8142	2	2			c.6365G>A	N|F|S|Mis				clear cell renal carcinoma	3	SNP	c.(6364-6366)CGG>CAG	34	34			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32	Broad	SET domain containing 2			47098909		0.423	ENSG00000181555	13911	g.chr3:47098909C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding							240.793835	KEEP	35	45	-1	49	73	35	45	-1	242.251499	49	73	0.407216	1	0	0	0	0	1	0	0	0	--	--		0	T			SETD2_uc003cqv.2_Missense_Mutation_p.R2189Q|SETD2_uc003cqt.1_RNA	217	GBM-28-5208-TP	p.R2122Q	C	AAACAACTTCCGGCGTTCCTC	NM_014159	NP_054878	47098909	Q9BYW2	SETD2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	15	6418	-	T	T		Acute lymphoblastic leukemia(5;0.0169)	Missense_Mutation	2122			Potential.			
SETD2	0	broad.mit.edu	GRCh37	3	47127761	47127761	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-5216-01	TCGA-28-5216-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409792.3:c.5321A>G	p.His1774Arg	p.H1774R	ENST00000409792	NM_014159.6	1774	cAt/cGt	0			1			C	H/R	uc003cqs.2	protein_coding	YES	CCDS2749.2			5321/7695	N|F|S|Mis				clear cell renal carcinoma				kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32	c.(5320-5322)CAT>CGT				SET domain containing 2				ENSP00000386759		21-Nov									COSM3408707,COSM3408706	21-Nov	.		ENST00000409792	Transcript	1		regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	ENSG00000181555	g.chr3:47127761T>C	18420			MODERATE		2.325	medium	getma.org/?cm=msa&ty=f&p=SETD2_HUMAN&rb=1668&re=1809&var=H1774R	NA	getma.org/?cm=var&var=hg19,3,47127761,T,C&fts=all	H1774R	--	--	1																																		SETD2_uc003cqv.2_Missense_Mutation_p.H1841R|SETD2_uc003cqt.1_5'Flank	1,1	1		probably_damaging(0.996)	p.H1774R	NM_014159	NP_054878		deleterious(0.01)	1,1	SETD2_HUMAN	SETD2	HGNC	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	C9JG86_HUMAN		11	5374	-		Acute lymphoblastic leukemia(5;0.0169)	UPI00017E10FB	1774					SNV	SETD2,missense_variant,p.His1774Arg,ENST00000409792,NM_014159.6;snoU13,upstream_gene_variant,,ENST00000516129,;SETD2,upstream_gene_variant,,ENST00000492397,;SETD2,missense_variant,p.His1408Arg,ENST00000445387,;SETD2,3_prime_UTR_variant,,ENST00000330022,;SETD2,3_prime_UTR_variant,,ENST00000431180,;SETD2,downstream_gene_variant,,ENST00000484689,;	uc003cqs.2	c.5321A>G	5364/8142	3	3			c.5321A>G	N|F|S|Mis				clear cell renal carcinoma	3	SNP	c.(5320-5322)CAT>CGT	52	52			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32	Broad	SET domain containing 2			47127761		0.498	ENSG00000181555	13911	g.chr3:47127761T>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding							106.067754	KEEP	23	18	-1	57	52	23	18	-1	112.241046	57	52	0.278571	1	0	0	0	0	1	0	0	0	--	--		0	C			SETD2_uc003cqv.2_Missense_Mutation_p.H1841R|SETD2_uc003cqt.1_5'Flank	223	GBM-28-5216-TP	p.H1774R	T	AGACAGCCCATGACGTTCCAG	NM_014159	NP_054878	47127761	Q9BYW2	SETD2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	11	5374	-	C	C		Acute lymphoblastic leukemia(5;0.0169)	Missense_Mutation	1774						
SETD3	84193		GRCh37	14	99866491	99866491	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000331768.5:c.1283C>T	p.Thr428Ile	p.T428I	ENST00000331768	NM_032233.2	428	aCa/aTa	0																																																																																																																																																																																																																																												
SETD5	55209		GRCh37	3	9489393	9489393	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000402198.1:c.1806C>T	p.Val602=	p.V602=	ENST00000402198	NM_001080517.1	602	gtC/gtT	0																																																																																																																																																																																																																																												
SETD6	0	broad.mit.edu	GRCh37	16	58552049	58552049	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-1982-01	TCGA-32-1982-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000219315.4:c.887T>C	p.Met296Thr	p.M296T	ENST00000219315		296	aTg/aCg	0			1			C	M/T	uc002ens.2	protein_coding	YES	CCDS54013.1			887/1422									ovary(1)	1	c.(886-888)ATG>ACG			hmmpanther:PTHR13271:SF25,hmmpanther:PTHR13271,Gene3D:2h21C01,PIRSF_domain:PIRSF011771,Superfamily_domains:0040997,Superfamily_domains:SSF82199	SET domain containing 6 isoform a				ENSP00000219315		8-Jun									COSM3402396	8-Jun	.		ENST00000219315	Transcript			negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity	ENSG00000103037	g.chr16:58552049T>C	26116			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=SETD6_HUMAN&rb=287&re=328&var=M296T	getma.org/pdb.php?prot=SETD6_HUMAN&from=287&to=328&var=M296T	getma.org/?cm=var&var=hg19,16,58552049,T,C&fts=all	M296T	--	--	1																																		SETD6_uc002enr.2_Missense_Mutation_p.M272T|SETD6_uc010cdm.2_RNA	1	1		possibly_damaging(0.636)	p.M296T	NM_001160305	NP_001153777		deleterious(0)	1	SETD6_HUMAN	SETD6	HGNC	Q8TBK2	SETD6_HUMAN					6	946	+			UPI000013C779	296					SNV	SETD6,missense_variant,p.Met227Thr,ENST00000394266,;SETD6,missense_variant,p.Met272Thr,ENST00000310682,NM_001160305.1,NM_024860.2;SETD6,missense_variant,p.Met296Thr,ENST00000219315,;SETD6,intron_variant,,ENST00000447443,;CNOT1,downstream_gene_variant,,ENST00000317147,NM_016284.4,NM_001265612.1;CNOT1,downstream_gene_variant,,ENST00000569240,;CNOT1,downstream_gene_variant,,ENST00000245138,;NDRG4,downstream_gene_variant,,ENST00000394282,NM_001130487.1;NDRG4,downstream_gene_variant,,ENST00000394279,NM_022910.3;NDRG4,downstream_gene_variant,,ENST00000258187,NM_020465.3;NDRG4,downstream_gene_variant,,ENST00000566192,NM_001242836.1,NM_001242834.1;NDRG4,downstream_gene_variant,,ENST00000570248,NM_001242835.1;NDRG4,downstream_gene_variant,,ENST00000563799,;NDRG4,downstream_gene_variant,,ENST00000562999,;SETD6,intron_variant,,ENST00000418480,;SETD6,3_prime_UTR_variant,,ENST00000427443,;SETD6,non_coding_transcript_exon_variant,,ENST00000463954,;SETD6,intron_variant,,ENST00000422445,;CNOT1,downstream_gene_variant,,ENST00000567188,;NDRG4,downstream_gene_variant,,ENST00000421602,;NDRG4,downstream_gene_variant,,ENST00000563209,;CNOT1,downstream_gene_variant,,ENST00000563130,;NDRG4,downstream_gene_variant,,ENST00000566265,;NDRG4,downstream_gene_variant,,ENST00000565981,;SETD6,downstream_gene_variant,,ENST00000467320,;SETD6,downstream_gene_variant,,ENST00000492050,;SETD6,downstream_gene_variant,,ENST00000470003,;SETD6,downstream_gene_variant,,ENST00000468223,;SETD6,upstream_gene_variant,,ENST00000491587,;CNOT1,downstream_gene_variant,,ENST00000569924,;	uc002ens.2	c.887T>C	937/1553	3	3			c.887T>C						16	SNP	c.(886-888)ATG>ACG	12	12			ovary(1)	1	Broad	SET domain containing 6 isoform a			58552049		0.448	ENSG00000103037	13915	g.chr16:58552049T>C	negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity							121.324197	KEEP	25	19	-1	62	43	25	19	-1	126.110037	62	43	0.301471	1	0	0	0	0	1	0	0	0	--	--		0	C			SETD6_uc002enr.2_Missense_Mutation_p.M272T|SETD6_uc010cdm.2_RNA	232	GBM-32-1982-TP	p.M296T	T	CTGATTCATATGTACGGTTTT	NM_001160305	NP_001153777	58552049	Q8TBK2	SETD6_HUMAN	0			6	946	+	C	C			Missense_Mutation	296						
SETD9	0	broad.mit.edu	GRCh37	5	56207282	56207282	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-1790-01	TCGA-19-1790-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285947.2:c.385A>G	p.Ser129Gly	p.S129G	ENST00000285947	NM_153706.3	129	Agc/Ggc	0			1			G	S/G	uc003jqx.2	protein_coding	YES	CCDS3972.1			385/900									ovary(1)	1	c.(385-387)AGC>GGC			PROSITE_profiles:PS50280,Gene3D:2.170.270.10	hypothetical protein LOC133383				ENSP00000285947		6-Feb									COSM2156098	6-Feb	.		ENST00000285947	Transcript						ENSG00000155542	g.chr5:56207282A>G	28508			MODERATE		2.44	medium	getma.org/?cm=msa&ty=f&p=CE035_HUMAN&rb=1&re=209&var=S129G	NA	getma.org/?cm=var&var=hg19,5,56207282,A,G&fts=all	S129G	--	--	1																																		C5orf35_uc003jqy.2_Intron	1	1		probably_damaging(0.938)	p.S129G	NM_153706	NP_714917		deleterious(0)	1	SETD9_HUMAN	SETD9	HGNC	Q8NE22	CE035_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;2.58e-39)			2	758	+		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.173)	UPI000013DE19	129					SNV	SETD9,missense_variant,p.Ser129Gly,ENST00000285947,NM_153706.3;SETD9,missense_variant,p.Ser129Gly,ENST00000541720,NM_001171990.1;SETD9,downstream_gene_variant,,ENST00000423328,;AC008937.3,upstream_gene_variant,,ENST00000453721,;SETD9,non_coding_transcript_exon_variant,,ENST00000475908,;SETD9,non_coding_transcript_exon_variant,,ENST00000498322,;SETD9,non_coding_transcript_exon_variant,,ENST00000480414,;SETD9,intron_variant,,ENST00000463805,;SETD9,intron_variant,,ENST00000472636,;SETD9,intron_variant,,ENST00000477359,;SETD9,intron_variant,,ENST00000418299,;	uc003jqx.2	c.385A>G	771/1619	3	3			c.385A>G						5	SNP	c.(385-387)AGC>GGC	2	2			ovary(1)	1	Broad	hypothetical protein LOC133383			56207282		0.403	ENSG00000155542	2248	g.chr5:56207282A>G										138.919594	KEEP	20	28	-1	82	91	20	28	-1	151.946522	82	91	0.232323	1	0	0	0	0	1	0	0	0	--	--		0	G			C5orf35_uc003jqy.2_Intron	160	GBM-19-1790-TP	p.S129G	A	CCAAGCAACTAGCTCATTGAT	NM_153706	NP_714917	56207282	Q8NE22	CE035_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(10;2.58e-39)	2	758	+	G	G		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.173)	Missense_Mutation	129						
SETDB1	0	broad.mit.edu	GRCh37	1	150936730	150936730	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1837-01	TCGA-27-1837-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271640.5:c.3766C>T	p.Arg1256Trp	p.R1256W	ENST00000271640	NM_001145415.1	1256	Cgg/Tgg	0			1			T	R/W	uc001evu.2	protein_coding	YES	CCDS44217.1			3766/3876									ovary(2)|upper_aerodigestive_tract(1)	3	c.(3766-3768)CGG>TGG			PROSITE_profiles:PS51573,PROSITE_profiles:PS50280,hmmpanther:PTHR22884:SF323,hmmpanther:PTHR22884,Pfam_domain:PF00856,Gene3D:2.170.270.10,SMART_domains:SM00317,Superfamily_domains:SSF82199	SET domain, bifurcated 1 isoform 1				ENSP00000271640		22/22									COSM1333900,COSM1333901	22/22	.		ENST00000271640	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	ENSG00000143379	g.chr1:150936730C>T	10761			MODERATE		1.495	low	getma.org/?cm=msa&ty=f&p=SETB1_HUMAN&rb=814&re=1266&var=R1256W	getma.org/pdb.php?prot=SETB1_HUMAN&from=814&to=1266&var=R1256W	getma.org/?cm=var&var=hg19,1,150936730,C,T&fts=all	R1256W	--	--	1																																		SETDB1_uc001evv.2_Missense_Mutation_p.R1255W	1,1	1		probably_damaging(0.987)	p.R1256W	NM_001145415	NP_001138887		deleterious(0)	1,1	SETB1_HUMAN	SETDB1	HGNC	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		E9PS59_HUMAN,B0QZE6_HUMAN		22	3956	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UPI0000135897	1256			SET.		SNV	SETDB1,missense_variant,p.Arg1256Trp,ENST00000271640,NM_001145415.1,NM_012432.3;SETDB1,missense_variant,p.Arg1255Trp,ENST00000368969,;CERS2,3_prime_UTR_variant,,ENST00000561294,;SETDB1,downstream_gene_variant,,ENST00000498193,;CERS2,downstream_gene_variant,,ENST00000271688,NM_181746.3;CERS2,downstream_gene_variant,,ENST00000368954,NM_022075.4;CERS2,downstream_gene_variant,,ENST00000560793,;CERS2,downstream_gene_variant,,ENST00000368949,;CERS2,downstream_gene_variant,,ENST00000361419,;CERS2,downstream_gene_variant,,ENST00000558062,;CERS2,downstream_gene_variant,,ENST00000421609,;CERS2,downstream_gene_variant,,ENST00000457392,;RP11-316M1.12,upstream_gene_variant,,ENST00000561111,;RP11-316M1.12,upstream_gene_variant,,ENST00000560481,;CERS2,downstream_gene_variant,,ENST00000345896,;SETDB1,downstream_gene_variant,,ENST00000459773,;SETDB1,non_coding_transcript_exon_variant,,ENST00000497314,;CERS2,intron_variant,,ENST00000482825,;CERS2,downstream_gene_variant,,ENST00000460664,;CERS2,downstream_gene_variant,,ENST00000559020,;SETDB1,downstream_gene_variant,,ENST00000528749,;SETDB1,downstream_gene_variant,,ENST00000533529,;CERS2,downstream_gene_variant,,ENST00000559660,;	uc001evu.2	c.3766C>T	3956/4437	1	1			c.3766C>T						1	SNP	c.(3766-3768)CGG>TGG	11	11			ovary(2)|upper_aerodigestive_tract(1)	3	Broad	SET domain, bifurcated 1 isoform 1			150936730		0.507	ENSG00000143379	13918	g.chr1:150936730C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			452			452	59.451693	KEEP	9	17	-1	26	23	9	17	-1	61.526721	26	23	0.313433	1	0	0	0	0	1	0	0	0	--	--		0	T			SETDB1_uc001evv.2_Missense_Mutation_p.R1255W	196	GBM-27-1837-TP	p.R1256W	C	CAGAAGAATCCGGGCTGGGAC	NM_001145415	NP_001138887	150936730	Q15047	SETB1_HUMAN	0	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		22	3956	+	T	T	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		Missense_Mutation	1256			SET.			
SETX	0	broad.mit.edu	GRCh37	9	135202099	135202099	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-81-5910-01	TCGA-81-5910-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000224140.5:c.4886A>G	p.Lys1629Arg	p.K1629R	ENST00000224140	NM_015046.5	1629	aAg/aGg	0			1			C	K/R	uc004cbk.2	protein_coding	YES	CCDS6947.1			4886/8034									ovary(2)|skin(1)	3	c.(4885-4887)AAG>AGG			hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF336	senataxin				ENSP00000224140		26-Oct									COSM3748408,COSM3748409	26-Oct	.		ENST00000224140	Transcript	1		cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	ENSG00000107290	g.chr9:135202099T>C	445			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=SETX_HUMAN&rb=1622&re=1821&var=K1629R	NA	getma.org/?cm=var&var=hg19,9,135202099,T,C&fts=all	K1629R	--	--	1																																		SETX_uc004cbj.2_Missense_Mutation_p.K1248R|SETX_uc010mzt.2_Missense_Mutation_p.K1248R	1,1	1		benign(0.028)	p.K1629R	NM_015046	NP_055861		tolerated(0.07)	1,1	SETX_HUMAN	SETX	HGNC	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)			10	5069	-		Myeloproliferative disorder(178;0.204)	UPI0000210D28	1629					SNV	SETX,missense_variant,p.Lys1629Arg,ENST00000372169,;SETX,missense_variant,p.Lys1629Arg,ENST00000224140,NM_015046.5;SETX,missense_variant,p.Lys1629Arg,ENST00000393220,;	uc004cbk.2	c.4886A>G	5069/11100	3	3			c.4886A>G						9	SNP	c.(4885-4887)AAG>AGG	3	3			ovary(2)|skin(1)	3	Broad	senataxin			135202099		0.398	ENSG00000107290	13921	g.chr9:135202099T>C	cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity							-11.625956	KEEP	1	2	-1	39	49	1	2	-1	6.879233	39	49	0.0375	1	0	0	0	0	1	0	0	0	--	--		0	C			SETX_uc004cbj.2_Missense_Mutation_p.K1248R|SETX_uc010mzt.2_Missense_Mutation_p.K1248R	289	GBM-81-5910-TP	p.K1629R	T	CTGTATCCCCTTTGACTTATT	NM_015046	NP_055861	135202099	Q7Z333	SETX_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	5069	-	C	C		Myeloproliferative disorder(178;0.204)	Missense_Mutation	1629						
SEZ6	0	broad.mit.edu	GRCh37	17	27287691	27287691	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A			TCGA-26-5132-01	TCGA-26-5132-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317338.12:c.1410-2A>T		p.X470_splice	ENST00000317338				0			1			A		uc002hdp.2	protein_coding	YES	CCDS45639.1			1410/2985									large_intestine(1)|central_nervous_system(1)	2	c.e7-1				seizure related 6 homolog isoform 1				ENSP00000312942											COSM3402699,COSM3402698		.		ENST00000317338	Transcript				integral to membrane|plasma membrane		ENSG00000063015	g.chr17:27287691T>A	15955			HIGH	16-Jun							--	--	1																																		SEZ6_uc002hdm.2_Splice_Site|SEZ6_uc010cry.1_Splice_Site_p.R470_splice|SEZ6_uc002hdq.1_Splice_Site_p.R345_splice	1,1	1			p.R470_splice	NM_178860	NP_849191			1,1	SEZ6_HUMAN	SEZ6	HGNC	Q53EL9	SEZ6_HUMAN	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		K7ELJ4_HUMAN		7	1604	-	Lung NSC(42;0.0137)		UPI0000049D91						SNV	SEZ6,splice_acceptor_variant,,ENST00000317338,;SEZ6,splice_acceptor_variant,,ENST00000360295,NM_178860.4,NM_001098635.1;SEZ6,splice_acceptor_variant,,ENST00000442608,;SEZ6,splice_acceptor_variant,,ENST00000540632,;SEZ6,splice_acceptor_variant,,ENST00000335960,;SEZ6,splice_acceptor_variant,,ENST00000539265,;SEZ6,upstream_gene_variant,,ENST00000535262,;PIPOX,intron_variant,,ENST00000583215,;PIPOX,intron_variant,,ENST00000580241,;PIPOX,intron_variant,,ENST00000578748,;PIPOX,intron_variant,,ENST00000577182,;PIPOX,intron_variant,,ENST00000580383,;SEZ6,splice_acceptor_variant,,ENST00000540419,;SEZ6,upstream_gene_variant,,ENST00000544224,;	uc002hdp.2	c.1410_splice	-/4471	5	2			c.1410_splice						17	SNP	c.e7-1	43	43			large_intestine(1)|central_nervous_system(1)	2	Broad	seizure related 6 homolog isoform 1			27287691		0.592	ENSG00000063015	13922	g.chr17:27287691T>A		integral to membrane|plasma membrane								7.218525	KEEP	3	0	-1	10	11	3	0	-1	7.441672	10	11	0.333333	1	0	0	0	0	0	0	0	1	--	--		0	A			SEZ6_uc002hdm.2_Splice_Site|SEZ6_uc010cry.1_Splice_Site_p.R470_splice|SEZ6_uc002hdq.1_Splice_Site_p.R345_splice	181	GBM-26-5132-TP	p.R470_splice	T	ATGATGAGCCTGAACCAGGAG	NM_178860	NP_849191	27287691	Q53EL9	SEZ6_HUMAN	0	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		7	1604	-	A	A	Lung NSC(42;0.0137)		Splice_Site							
SEZ6	0	broad.mit.edu	GRCh37	17	27308674	27308674	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1834-01	TCGA-27-1834-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317338.12:c.439C>T	p.Pro147Ser	p.P147S	ENST00000317338		147	Cct/Tct	0			1			A	P/S	uc002hdp.2	protein_coding	YES	CCDS45639.1			439/2985									large_intestine(1)|central_nervous_system(1)	2	c.(439-441)CCT>TCT			hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF92	seizure related 6 homolog isoform 1				ENSP00000312942		17-Feb									COSM3402701,COSM3402700	17-Feb	.		ENST00000317338	Transcript				integral to membrane|plasma membrane		ENSG00000063015	g.chr17:27308674G>A	15955			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=SEZ6_HUMAN&rb=1&re=200&var=P147S	NA	getma.org/?cm=var&var=hg19,17,27308674,G,A&fts=all	P147S	--	--	1																																		SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.P147S|SEZ6_uc002hdq.1_Missense_Mutation_p.P22S|SEZ6_uc010crz.1_Missense_Mutation_p.P147S	1,1	1		benign(0.011)	p.P147S	NM_178860	NP_849191		tolerated(0.14)	1,1	SEZ6_HUMAN	SEZ6	HGNC	Q53EL9	SEZ6_HUMAN	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		K7ELJ4_HUMAN		2	633	-	Lung NSC(42;0.0137)		UPI0000049D91	147			Pro-rich.|Extracellular (Potential).		SNV	SEZ6,missense_variant,p.Pro147Ser,ENST00000317338,;SEZ6,missense_variant,p.Pro147Ser,ENST00000360295,NM_178860.4,NM_001098635.1;SEZ6,missense_variant,p.Pro147Ser,ENST00000442608,;SEZ6,missense_variant,p.Pro73Ser,ENST00000540632,;SEZ6,missense_variant,p.Pro147Ser,ENST00000335960,;SEZ6,missense_variant,p.Pro22Ser,ENST00000585644,;PIPOX,intron_variant,,ENST00000583215,;PIPOX,intron_variant,,ENST00000580241,;PIPOX,intron_variant,,ENST00000578748,;PIPOX,intron_variant,,ENST00000577182,;PIPOX,intron_variant,,ENST00000580383,;SEZ6,upstream_gene_variant,,ENST00000540419,;	uc002hdp.2	c.439C>T	868/4471	2	2			c.439C>T						17	SNP	c.(439-441)CCT>TCT	34	34			large_intestine(1)|central_nervous_system(1)	2	Broad	seizure related 6 homolog isoform 1			27308674		0.652	ENSG00000063015	13922	g.chr17:27308674G>A		integral to membrane|plasma membrane								55.946462	KEEP	11	10	-1	11	15	11	10	-1	56.193377	11	15	0.418605	1	0	0	0	0	1	0	0	0	--	--		0	A			SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.P147S|SEZ6_uc002hdq.1_Missense_Mutation_p.P22S|SEZ6_uc010crz.1_Missense_Mutation_p.P147S	193	GBM-27-1834-TP	p.P147S	G	CGAAGCATAGGGGACTCTGAC	NM_178860	NP_849191	27308674	Q53EL9	SEZ6_HUMAN	0	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		2	633	-	A	A	Lung NSC(42;0.0137)		Missense_Mutation	147			Pro-rich.|Extracellular (Potential).			
SEZ6L2	0	broad.mit.edu	GRCh37	16	29897033	29897033	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01	TCGA-12-0619-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308713.5:c.1246G>A	p.Val416Met	p.V416M	ENST00000308713	NM_001114099.2	416	Gtg/Atg	0			1			T	V/M	uc002duq.3	protein_coding	YES	CCDS10659.1			1246/2733									ovary(1)|skin(1)	2	c.(1246-1248)GTG>ATG			PROSITE_profiles:PS01180,hmmpanther:PTHR19325:SF16,hmmpanther:PTHR19325,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854	seizure related 6 homolog (mouse)-like 2 isoform				ENSP00000312550		17-Aug	8.24E-06		8.67E-05						rs775884420,COSM2153677,COSM2153678	17-Aug	.		ENST00000308713	Transcript				endoplasmic reticulum membrane|integral to membrane|plasma membrane		ENSG00000174938	g.chr16:29897033C>T	30844			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=SE6L2_HUMAN&rb=349&re=459&var=V416M	getma.org/pdb.php?prot=SE6L2_HUMAN&from=349&to=459&var=V416M	getma.org/?cm=var&var=hg19,16,29897033,C,T&fts=all	V416M	--	--	1																																		uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.V346M|SEZ6L2_uc002dur.3_Missense_Mutation_p.V346M|SEZ6L2_uc002dus.3_Missense_Mutation_p.V302M|SEZ6L2_uc010vec.1_Missense_Mutation_p.V416M|SEZ6L2_uc010ved.1_Missense_Mutation_p.V372M	0,1,1	1		benign(0.207)	p.V416M	NM_201575	NP_963869		tolerated(0.1)	0,1,1	SE6L2_HUMAN	SEZ6L2	HGNC	Q6UXD5	SE6L2_HUMAN			B3KNF3_HUMAN		8	1486	-			UPI0000366B1B	416			CUB 2.|Extracellular (Potential).		SNV	SEZ6L2,missense_variant,p.Val416Met,ENST00000308713,NM_001114099.2,NM_201575.3;SEZ6L2,missense_variant,p.Val346Met,ENST00000350527,NM_012410.3,NM_001243332.1;SEZ6L2,missense_variant,p.Val302Met,ENST00000346932,NM_001114100.2;SEZ6L2,missense_variant,p.Val372Met,ENST00000537485,NM_001243333.1;SEZ6L2,missense_variant,p.Val88Met,ENST00000563118,;SEZ6L2,downstream_gene_variant,,ENST00000562159,;SEZ6L2,non_coding_transcript_exon_variant,,ENST00000568407,;	uc002duq.3	c.1246G>A	1774/3801	1	1			c.1246G>A						16	SNP	c.(1246-1248)GTG>ATG	3	3			ovary(1)|skin(1)	2	Broad	seizure related 6 homolog (mouse)-like 2 isoform			29897033		0.612	ENSG00000174938	13924	g.chr16:29897033C>T		endoplasmic reticulum membrane|integral to membrane|plasma membrane								138.490481	KEEP	26	23	-1	27	32	26	23	-1	138.756109	27	32	0.444444	1	0	0	0	0	1	0	0	0	--	--		0	T			uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.V346M|SEZ6L2_uc002dur.3_Missense_Mutation_p.V346M|SEZ6L2_uc002dus.3_Missense_Mutation_p.V302M|SEZ6L2_uc010vec.1_Missense_Mutation_p.V416M|SEZ6L2_uc010ved.1_Missense_Mutation_p.V372M	120	GBM-12-0619-TP	p.V416M	C	TCATAGATCACGGGGGATAGG	NM_201575	NP_963869	29897033	Q6UXD5	SE6L2_HUMAN	0			8	1486	-	T	T			Missense_Mutation	416			CUB 2.|Extracellular (Potential).			
SEZ6L2	0	broad.mit.edu	GRCh37	16	29884701	29884701	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308713.5:c.2348C>T	p.Thr783Met	p.T783M	ENST00000308713	NM_001114099.2	783	aCg/aTg	0	A:0		1			A	T/M	uc002duq.3	protein_coding	YES	CCDS10659.1			2348/2733									ovary(1)|skin(1)	2	c.(2347-2349)ACG>ATG			PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF16,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535	seizure related 6 homolog (mouse)-like 2 isoform			A:0.0001	ENSP00000312550		14/17	4.12E-05			0.000116		6.00E-05			rs372252400,COSM3402258,COSM3402259	14/17	.		ENST00000308713	Transcript				endoplasmic reticulum membrane|integral to membrane|plasma membrane		ENSG00000174938	g.chr16:29884701G>A	30844			MODERATE		1.97	medium	getma.org/?cm=msa&ty=f&p=SE6L2_HUMAN&rb=771&re=828&var=T783M	getma.org/pdb.php?prot=SE6L2_HUMAN&from=771&to=828&var=T783M	getma.org/?cm=var&var=hg19,16,29884701,G,A&fts=all	T783M	--	--	1																																		uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.T713M|SEZ6L2_uc002dur.3_Missense_Mutation_p.T713M|SEZ6L2_uc002dus.3_Missense_Mutation_p.T669M|SEZ6L2_uc010vec.1_Missense_Mutation_p.T783M|SEZ6L2_uc010ved.1_Missense_Mutation_p.T739M	0,1,1	1		probably_damaging(0.909)	p.T783M	NM_201575	NP_963869		deleterious(0.01)	0,1,1	SE6L2_HUMAN	SEZ6L2	HGNC	Q6UXD5	SE6L2_HUMAN			B3KNF3_HUMAN		14	2588	-			UPI0000366B1B	783			Sushi 5.|Extracellular (Potential).		SNV	SEZ6L2,missense_variant,p.Thr783Met,ENST00000308713,NM_001114099.2,NM_201575.3;SEZ6L2,missense_variant,p.Thr713Met,ENST00000350527,NM_012410.3,NM_001243332.1;SEZ6L2,missense_variant,p.Thr669Met,ENST00000346932,NM_001114100.2;SEZ6L2,missense_variant,p.Thr739Met,ENST00000537485,NM_001243333.1;SEZ6L2,downstream_gene_variant,,ENST00000563118,;SEZ6L2,downstream_gene_variant,,ENST00000568407,;	uc002duq.3	c.2348C>T	2876/3801	2	2			c.2348C>T						16	SNP	c.(2347-2349)ACG>ATG	35	35			ovary(1)|skin(1)	2	Broad	seizure related 6 homolog (mouse)-like 2 isoform			29884701		0.622	ENSG00000174938	13924	g.chr16:29884701G>A		endoplasmic reticulum membrane|integral to membrane|plasma membrane								80.317436	KEEP	19	21	-1	41	45	19	21	-1	83.243412	41	45	0.316327	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.T713M|SEZ6L2_uc002dur.3_Missense_Mutation_p.T713M|SEZ6L2_uc002dus.3_Missense_Mutation_p.T669M|SEZ6L2_uc010vec.1_Missense_Mutation_p.T783M|SEZ6L2_uc010ved.1_Missense_Mutation_p.T739M	230	GBM-32-1979-TP	p.T783M	G	CTTGTACAGCGTCTGGTAGCC	NM_201575	NP_963869	29884701	Q6UXD5	SE6L2_HUMAN	0			14	2588	-	A	A			Missense_Mutation	783			Sushi 5.|Extracellular (Potential).			
SEZ6L2	0	broad.mit.edu	GRCh37	16	29908260	29908260	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01	TCGA-32-4213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308713.5:c.394C>T	p.Pro132Ser	p.P132S	ENST00000308713	NM_001114099.2	132	Cca/Tca	0		A:0	1	A:0		A	P/S	uc002duq.3	protein_coding	YES	CCDS10659.1			394/2733									ovary(1)|skin(1)	2	c.(394-396)CCA>TCA			Low_complexity_(Seg):seg,hmmpanther:PTHR19325:SF16,hmmpanther:PTHR19325	seizure related 6 homolog (mouse)-like 2 isoform		A:0.001		ENSP00000312550	A:0	17-Mar									rs201397581,COSM3402260	17-Mar	.		ENST00000308713	Transcript		A:0.0002		endoplasmic reticulum membrane|integral to membrane|plasma membrane		ENSG00000174938	g.chr16:29908260G>A	30844			MODERATE		0.205	neutral	getma.org/?cm=msa&ty=f&p=SE6L2_HUMAN&rb=1&re=172&var=P132S	NA	getma.org/?cm=var&var=hg19,16,29908260,G,A&fts=all	P132S	--	--	1																																		uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Intron|SEZ6L2_uc002dur.3_Intron|SEZ6L2_uc002dus.3_Missense_Mutation_p.P132S|SEZ6L2_uc010vec.1_Missense_Mutation_p.P132S|SEZ6L2_uc010ved.1_Missense_Mutation_p.P88S	0,1	1		benign(0)	p.P132S	NM_201575	NP_963869	A:0	tolerated(0.44)	0,1	SE6L2_HUMAN	SEZ6L2	HGNC	Q6UXD5	SE6L2_HUMAN			B3KNF3_HUMAN		3	634	-			UPI0000366B1B	132			Pro-rich.|Extracellular (Potential).		SNV	SEZ6L2,missense_variant,p.Pro132Ser,ENST00000308713,NM_001114099.2,NM_201575.3;SEZ6L2,missense_variant,p.Pro132Ser,ENST00000346932,NM_001114100.2;SEZ6L2,missense_variant,p.Pro88Ser,ENST00000537485,NM_001243333.1;SEZ6L2,intron_variant,,ENST00000350527,NM_012410.3,NM_001243332.1;ASPHD1,upstream_gene_variant,,ENST00000308748,NM_181718.3;ASPHD1,upstream_gene_variant,,ENST00000483405,;ASPHD1,upstream_gene_variant,,ENST00000563177,;SEZ6L2,downstream_gene_variant,,ENST00000568380,;SEZ6L2,non_coding_transcript_exon_variant,,ENST00000562159,;ASPHD1,upstream_gene_variant,,ENST00000566693,;ASPHD1,upstream_gene_variant,,ENST00000414952,;	uc002duq.3	c.394C>T	922/3801	2	2			c.394C>T						16	SNP	c.(394-396)CCA>TCA	32	32			ovary(1)|skin(1)	2	Broad	seizure related 6 homolog (mouse)-like 2 isoform			29908260		0.687	ENSG00000174938	13924	g.chr16:29908260G>A		endoplasmic reticulum membrane|integral to membrane|plasma membrane								-0.509849	KEEP	0	3	-1	18	22	0	3	-1	7.171965	18	22	0.073171	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Intron|SEZ6L2_uc002dur.3_Intron|SEZ6L2_uc002dus.3_Missense_Mutation_p.P132S|SEZ6L2_uc010vec.1_Missense_Mutation_p.P132S|SEZ6L2_uc010ved.1_Missense_Mutation_p.P88S	247	GBM-32-4213-TP	p.P132S	G	GGTGGGGGTGGGGCTGTGGTT	NM_201575	NP_963869	29908260	Q6UXD5	SE6L2_HUMAN	0			3	634	-	A	A			Missense_Mutation	132			Pro-rich.|Extracellular (Potential).			
SF1	7536		GRCh37	11	64537812	64537812	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0151-01	TCGA-06-0151-01																				ENST00000377387.1:c.680G>A	p.Arg227His	p.R227H	ENST00000377387	NM_001178030.1	227	cGc/cAc	0																																																																																																																																																																																																																																												
SF3A1	10291	broad.mit.edu	GRCh37	22	30738811	30738811	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0128-01	TCGA-06-0128-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000215793.8:c.709C>T	p.Arg237Ter	p.R237*	ENST00000215793	NM_005877.4	237	Cga/Tga	0			1			A	R/*	uc003ahl.2	protein_coding	YES	CCDS13875.1			709/2382									ovary(3)|large_intestine(1)|pancreas(1)	5	c.(709-711)CGA>TGA			Pfam_domain:PF12230,hmmpanther:PTHR15316	splicing factor 3a, subunit 1, 120kDa isoform 1				ENSP00000215793		16-May									COSM3405584	16-May	.		ENST00000215793	Transcript			nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	ENSG00000099995	g.chr22:30738811G>A	10765			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,22,30738811,G,A&fts=all	R237*	--	--	1																																			1	1			p.R237*	NM_005877	NP_005868			1	SF3A1_HUMAN	SF3A1	HGNC	Q15459	SF3A1_HUMAN					5	841	-			UPI0000000C88	237					SNV	SF3A1,stop_gained,p.Arg237Ter,ENST00000215793,NM_005877.4;SF3A1,stop_gained,p.Arg172Ter,ENST00000439242,NM_001005409.1;SF3A1,upstream_gene_variant,,ENST00000444440,;SF3A1,3_prime_UTR_variant,,ENST00000447376,;SF3A1,non_coding_transcript_exon_variant,,ENST00000471037,;SF3A1,intron_variant,,ENST00000411423,;SF3A1,upstream_gene_variant,,ENST00000498259,;SF3A1,upstream_gene_variant,,ENST00000485618,;SF3A1,downstream_gene_variant,,ENST00000463818,;SF3A1,downstream_gene_variant,,ENST00000471342,;	uc003ahl.2	c.709C>T	864/5143	5	1			c.709C>T						22	SNP	c.(709-711)CGA>TGA	58	58			ovary(3)|large_intestine(1)|pancreas(1)	5	Broad	splicing factor 3a, subunit 1, 120kDa isoform 1			30738811		0.408	ENSG00000099995	13926	g.chr22:30738811G>A	nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding							20.939025	KEEP	11	11	-1	80	83	11	11	-1	44.170518	80	83	0.113924	1	0	0	0	0	0	1	0	0	--	--		0	A				14	GBM-06-0128-TP	p.R237*	G	AAAACTTCTCGGGGGTTTTCA	NM_005877	NP_005868	30738811	Q15459	SF3A1_HUMAN	0			5	841	-	A	A			Nonsense_Mutation	237						
SF3A1	0	broad.mit.edu	GRCh37	22	30736312	30736312	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-12-0821-01	TCGA-12-0821-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000215793.8:c.1248T>G	p.Thr416=	p.T416=	ENST00000215793	NM_005877.4	416	acT/acG	0			1			C	T	uc003ahl.2	protein_coding	YES	CCDS13875.1			1248/2382									ovary(3)|large_intestine(1)|pancreas(1)	5	c.(1246-1248)ACT>ACG			Pfam_domain:PF12230,hmmpanther:PTHR15316	splicing factor 3a, subunit 1, 120kDa isoform 1				ENSP00000215793		16-Sep	0.000642			0.000463		0.000596	0.0011	6.06E-05	rs755133743,COSM3748171	16-Sep	common_variant		ENST00000215793	Transcript			nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	ENSG00000099995	g.chr22:30736312A>C	10765			LOW								--	--	1																																			0,1	1			p.T416T	NM_005877	NP_005868			0,1	SF3A1_HUMAN	SF3A1	HGNC	Q15459	SF3A1_HUMAN					9	1380	-			UPI0000000C88	416					SNV	SF3A1,synonymous_variant,p.=,ENST00000215793,NM_005877.4;SF3A1,synonymous_variant,p.=,ENST00000439242,NM_001005409.1;SF3A1,synonymous_variant,p.=,ENST00000444440,;SF3A1,non_coding_transcript_exon_variant,,ENST00000498259,;SF3A1,non_coding_transcript_exon_variant,,ENST00000485618,;SF3A1,intron_variant,,ENST00000411423,;SF3A1,downstream_gene_variant,,ENST00000471037,;SF3A1,downstream_gene_variant,,ENST00000471342,;SF3A1,downstream_gene_variant,,ENST00000447376,;	uc003ahl.2	c.1248T>G	1403/5143	3	3			c.1248T>G						22	SNP	c.(1246-1248)ACT>ACG	59	59			ovary(3)|large_intestine(1)|pancreas(1)	5	Broad	splicing factor 3a, subunit 1, 120kDa isoform 1			30736312		0.557	ENSG00000099995	13926	g.chr22:30736312A>C	nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding							-13.831923	KEEP	14	2	-1	67	53	14	2	-1	6.324493	67	53	0.067308	1	0	0	0	0	0	0	1	0	--	--		0	C				123	GBM-12-0821-TP	p.T416T	A	TCTTCTCCCCAGTAATGGGGG	NM_005877	NP_005868	30736312	Q15459	SF3A1_HUMAN	0			9	1380	-	C	C			Silent	416						
SF3A1	0	broad.mit.edu	GRCh37	22	30738319	30738319	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-41-2571-01	TCGA-41-2571-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000215793.8:c.747G>A	p.Trp249Ter	p.W249*	ENST00000215793	NM_005877.4	249	tgG/tgA	0			1			T	W/*	uc003ahl.2	protein_coding	YES	CCDS13875.1			747/2382									ovary(3)|large_intestine(1)|pancreas(1)	5	c.(745-747)TGG>TGA			Pfam_domain:PF12230,hmmpanther:PTHR15316	splicing factor 3a, subunit 1, 120kDa isoform 1				ENSP00000215793		16-Jun									COSM3405583	16-Jun	.		ENST00000215793	Transcript			nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	ENSG00000099995	g.chr22:30738319C>T	10765			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,22,30738319,C,T&fts=all	W249*	--	--	1																																			1	1			p.W249*	NM_005877	NP_005868			1	SF3A1_HUMAN	SF3A1	HGNC	Q15459	SF3A1_HUMAN					6	879	-			UPI0000000C88	249					SNV	SF3A1,stop_gained,p.Trp249Ter,ENST00000215793,NM_005877.4;SF3A1,stop_gained,p.Trp184Ter,ENST00000439242,NM_001005409.1;SF3A1,upstream_gene_variant,,ENST00000444440,;SF3A1,3_prime_UTR_variant,,ENST00000447376,;SF3A1,intron_variant,,ENST00000411423,;SF3A1,upstream_gene_variant,,ENST00000498259,;SF3A1,upstream_gene_variant,,ENST00000485618,;SF3A1,downstream_gene_variant,,ENST00000463818,;SF3A1,downstream_gene_variant,,ENST00000471037,;SF3A1,downstream_gene_variant,,ENST00000471342,;	uc003ahl.2	c.747G>A	902/5143	5	2			c.747G>A						22	SNP	c.(745-747)TGG>TGA	27	27			ovary(3)|large_intestine(1)|pancreas(1)	5	Broad	splicing factor 3a, subunit 1, 120kDa isoform 1			30738319		0.458	ENSG00000099995	13926	g.chr22:30738319C>T	nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding							39.270257	KEEP	10	3	-1	9	6	10	3	-1	39.301551	9	6	0.464286	1	0	0	0	0	0	1	0	0	--	--		0	T				250	GBM-41-2571-TP	p.W249*	C	GGAATTTGGCCCATTCCACTC	NM_005877	NP_005868	30738319	Q15459	SF3A1_HUMAN	0			6	879	-	T	T			Nonsense_Mutation	249						
SF3A2	0	broad.mit.edu	GRCh37	19	2248259	2248260	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-32-2638-01	TCGA-32-2638-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221494.5:c.1114dupG	p.Val372GlyfsTer133	p.V372Gfs*133	ENST00000221494	NM_007165.4	370	gcg/gcGg	0			1			G	A/AX	uc002lvg.2	protein_coding	YES	CCDS12084.1			1109-1110/1395										0	c.(1108-1110)GCGfs			Low_complexity_(Seg):seg	splicing factor 3a, subunit 2				ENSP00000221494		9-Sep										9-Sep	.		ENST00000221494	Transcript			nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding	ENSG00000104897	g.chr19:2248259_2248260insG	10766	5		HIGH								--	--	1																																		AMH_uc002lvh.2_5'Flank|hsa-mir-4321|MI0015852_5'Flank		1			p.A370fs	NM_007165	NP_009096				SF3A2_HUMAN	SF3A2	HGNC	Q15428	SF3A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	K7EP23_HUMAN		9	1231_1232	+		Hepatocellular(1079;0.137)	UPI0000135468	370			Pro-rich.		insertion	SF3A2,frameshift_variant,p.Val372GlyfsTer133,ENST00000221494,NM_007165.4;AMH,upstream_gene_variant,,ENST00000221496,NM_000479.3;JSRP1,downstream_gene_variant,,ENST00000300961,NM_144616.3;JSRP1,downstream_gene_variant,,ENST00000586471,;SF3A2,downstream_gene_variant,,ENST00000586396,;AMH,upstream_gene_variant,,ENST00000592877,;MIR4321,upstream_gene_variant,,ENST00000592276,;AMH,upstream_gene_variant,,ENST00000589313,;SF3A2,downstream_gene_variant,,ENST00000592314,;SF3A2,downstream_gene_variant,,ENST00000592839,;AMH,upstream_gene_variant,,ENST00000609455,;SF3A2,downstream_gene_variant,,ENST00000589118,;SF3A2,downstream_gene_variant,,ENST00000590034,;SF3A2,downstream_gene_variant,,ENST00000587637,;SF3A2,downstream_gene_variant,,ENST00000591121,;	uc002lvg.2	c.1109_1110insG	1527-1528/1946	5	5			c.1109_1110insG						19	INS	c.(1108-1110)GCGfs	55	55				0	Broad	splicing factor 3a, subunit 2			2248260		0.748	ENSG00000104897	13927	g.chr19:2248259_2248260insG	nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding																				0.4	1	0	0	1	1	0	0	0	0	--	--		0	G			AMH_uc002lvh.2_5'Flank|hsa-mir-4321|MI0015852_5'Flank	242	GBM-32-2638-TP	p.A370fs	-	CCCCCATCAGCGGGGGTTCACC	NM_007165	NP_009096	2248259	Q15428	SF3A2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1231_1232	+	G	G		Hepatocellular(1079;0.137)	Frame_Shift_Ins	370			Pro-rich.			
SF3A3	0	broad.mit.edu	GRCh37	1	38435290	38435290	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-14-0787-01	TCGA-14-0787-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373019.4:c.1123G>T	p.Glu375Ter	p.E375*	ENST00000373019	NM_006802.2	375	Gag/Tag	0			1			A	E/*	uc001cci.2	protein_coding	YES	CCDS428.1			1123/1506										0	c.(1123-1125)GAG>TAG			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF11931,hmmpanther:PTHR12786,hmmpanther:PTHR12786:SF2,Low_complexity_(Seg):seg	splicing factor 3a, subunit 3				ENSP00000362110		13/17									COSM3400747	13/17	.		ENST00000373019	Transcript			nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding	ENSG00000183431	g.chr1:38435290C>A	10767			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,38435290,C,A&fts=all	E375*	--	--	1																																		SF3A3_uc010oik.1_Nonsense_Mutation_p.E322*	1	1			p.E375*	NM_006802	NP_006793			1	SF3A3_HUMAN	SF3A3	HGNC	Q12874	SF3A3_HUMAN					13	1247	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	UPI0000135469	375					SNV	SF3A3,stop_gained,p.Glu375Ter,ENST00000373019,NM_006802.2;SF3A3,stop_gained,p.Glu322Ter,ENST00000448721,;SF3A3,non_coding_transcript_exon_variant,,ENST00000460925,;	uc001cci.2	c.1123G>T	2079/3673	5	2			c.1123G>T						1	SNP	c.(1123-1125)GAG>TAG	35	35				0	Broad	splicing factor 3a, subunit 3			38435290		0.468	ENSG00000183431	13928	g.chr1:38435290C>A	nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding							102.07092	KEEP	18	19	0.513513514	30	46	18	19	0.513513514	104.849807	30	46	0.330275	1	0	0	0	0	0	1	0	0	--	--		0	A			SF3A3_uc010oik.1_Nonsense_Mutation_p.E322*	135	GBM-14-0787-TP	p.E375*	C	TAAATGATCTCGTTCTCTTCA	NM_006802	NP_006793	38435290	Q12874	SF3A3_HUMAN	0			13	1247	-	A	A	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	Nonsense_Mutation	375						
SF3B1	23451	broad.mit.edu	GRCh37	2	198267698	198267698	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0130-01	TCGA-06-0130-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335508.6:c.1781G>A	p.Arg594Gln	p.R594Q	ENST00000335508	NM_012433.2	594	cGa/cAa	0			1			T	R/Q	uc002uue.2	protein_coding	YES	CCDS33356.1			1781/3915									pancreas(3)|ovary(1)|breast(1)|skin(1)	6	c.(1780-1782)CGA>CAA			hmmpanther:PTHR12097,Gene3D:1.25.10.10	splicing factor 3b, subunit 1 isoform 1				ENSP00000335321		13/25									COSM3407453	13/25	.		ENST00000335508	Transcript	1		nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	ENSG00000115524	g.chr2:198267698C>T	10768			MODERATE		3.205	medium	getma.org/?cm=msa&ty=f&p=SF3B1_HUMAN&rb=458&re=657&var=R594Q	NA	getma.org/?cm=var&var=hg19,2,198267698,C,T&fts=all	R594Q	--	--	1																																			1	1		probably_damaging(0.973)	p.R594Q	NM_012433	NP_036565		deleterious(0.02)	1	SF3B1_HUMAN	SF3B1	HGNC	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		Q9NTB4_HUMAN,F8WC19_HUMAN		13	1829	-			UPI000013D493	594	R -> L (in Ref. 1; AAC97189).		HEAT 2.		SNV	SF3B1,missense_variant,p.Arg594Gln,ENST00000335508,NM_012433.2;SF3B1,upstream_gene_variant,,ENST00000424674,;SNORA4,upstream_gene_variant,,ENST00000365564,;SF3B1,upstream_gene_variant,,ENST00000462613,;SF3B1,downstream_gene_variant,,ENST00000468925,;SF3B1,upstream_gene_variant,,ENST00000496458,;	uc002uue.2	c.1781G>A	1873/6526	2	2			c.1781G>A						2	SNP	c.(1780-1782)CGA>CAA	29	29			pancreas(3)|ovary(1)|breast(1)|skin(1)	6	Broad	splicing factor 3b, subunit 1 isoform 1			198267698		0.338	ENSG00000115524	13929	g.chr2:198267698C>T	nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding							-0.004783	KEEP	4	4	-1	30	51	4	4	-1	14.280268	30	51	0.076923	1	0	0	0	0	1	0	0	0	--	--		0	T				16	GBM-06-0130-TP	p.R594Q	C	AATGATCTCTCGGCCTTCCAC	NM_012433	NP_036565	198267698	O75533	SF3B1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.246)		13	1829	-	T	T			Missense_Mutation	594	R -> L (in Ref. 1; AAC97189).		HEAT 2.			
SF3B1	0	broad.mit.edu	GRCh37	2	198267454	198267454	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01	TCGA-14-3476-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335508.6:c.1903G>T	p.Val635Leu	p.V635L	ENST00000335508	NM_012433.2	635	Gta/Tta	0			1			A	V/L	uc002uue.2	protein_coding	YES	CCDS33356.1			1903/3915									pancreas(3)|ovary(1)|breast(1)|skin(1)	6	c.(1903-1905)GTA>TTA			hmmpanther:PTHR12097,Superfamily_domains:SSF48371	splicing factor 3b, subunit 1 isoform 1				ENSP00000335321		14/25									COSM3748116	14/25	.		ENST00000335508	Transcript	1		nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	ENSG00000115524	g.chr2:198267454C>A	10768			MODERATE		3.39	medium	getma.org/?cm=msa&ty=f&p=SF3B1_HUMAN&rb=458&re=657&var=V635L	NA	getma.org/?cm=var&var=hg19,2,198267454,C,A&fts=all	V635L	--	--	1																																			1	1		benign(0.339)	p.V635L	NM_012433	NP_036565		deleterious(0.01)	1	SF3B1_HUMAN	SF3B1	HGNC	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		Q9NTB4_HUMAN,F8WC19_HUMAN		14	1951	-			UPI000013D493	635			HEAT 3.		SNV	SF3B1,missense_variant,p.Val635Leu,ENST00000335508,NM_012433.2;SF3B1,upstream_gene_variant,,ENST00000424674,;SNORA4,upstream_gene_variant,,ENST00000365564,;SF3B1,upstream_gene_variant,,ENST00000462613,;SF3B1,upstream_gene_variant,,ENST00000496458,;	uc002uue.2	c.1903G>T	1995/6526	2	2			c.1903G>T						2	SNP	c.(1903-1905)GTA>TTA	36	36			pancreas(3)|ovary(1)|breast(1)|skin(1)	6	Broad	splicing factor 3b, subunit 1 isoform 1			198267454		0.448	ENSG00000115524	13929	g.chr2:198267454C>A	nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding							-18.695014	KEEP	3	2	0.4	46	71	3	2	0.4	7.349753	46	71	0.043103	1	0	0	0	0	1	0	0	0	--	--		0	A				151	GBM-14-3476-TP	p.V635L	C	GCAGAGGCTACAACAGCAAAA	NM_012433	NP_036565	198267454	O75533	SF3B1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	1951	-	A	A			Missense_Mutation	635			HEAT 3.			
SF3B2	0	broad.mit.edu	GRCh37	11	65830517	65830517	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-12-0616-01	TCGA-12-0616-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322535.6:c.2015A>G	p.Lys672Arg	p.K672R	ENST00000322535	NM_006842.2	672	aAa/aGa	0			1			G	K/R	uc001ogy.1	protein_coding	YES	CCDS31612.1			2015/2688									ovary(2)|breast(1)	3	c.(2014-2016)AAA>AGA			hmmpanther:PTHR12785,hmmpanther:PTHR12785:SF6	splicing factor 3B subunit 2				ENSP00000318861		17/22									COSM2153549	17/22	.		ENST00000322535	Transcript			interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	ENSG00000087365	g.chr11:65830517A>G	10769			MODERATE		2.39	medium	getma.org/?cm=msa&ty=f&p=SF3B2_HUMAN&rb=658&re=857&var=K672R	NA	getma.org/?cm=var&var=hg19,11,65830517,A,G&fts=all	K672R	--	--	1																																			1	1		probably_damaging(0.924)	p.K672R	NM_006842	NP_006833		tolerated(0.06)	1	SF3B2_HUMAN	SF3B2	HGNC	Q13435	SF3B2_HUMAN			E9PIL8_HUMAN		17	2055	+			UPI00001C1F20	672					SNV	SF3B2,missense_variant,p.Lys655Arg,ENST00000528302,;SF3B2,missense_variant,p.Lys672Arg,ENST00000322535,NM_006842.2;SF3B2,missense_variant,p.Lys93Arg,ENST00000530981,;SF3B2,downstream_gene_variant,,ENST00000530322,;SF3B2,downstream_gene_variant,,ENST00000533595,;SF3B2,downstream_gene_variant,,ENST00000524627,;RP11-1167A19.2,downstream_gene_variant,,ENST00000529036,;SF3B2,upstream_gene_variant,,ENST00000534765,;SF3B2,downstream_gene_variant,,ENST00000529994,;SF3B2,downstream_gene_variant,,ENST00000525207,;	uc001ogy.1	c.2015A>G	2064/2903	3	3			c.2015A>G						11	SNP	c.(2014-2016)AAA>AGA	59	59			ovary(2)|breast(1)	3	Broad	splicing factor 3B subunit 2			65830517		0.498	ENSG00000087365	13931	g.chr11:65830517A>G	interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding							85.104054	KEEP	24	9	-1	14	17	24	9	-1	85.147601	14	17	0.533333	1	0	0	0	0	1	0	0	0	--	--		0	G				118	GBM-12-0616-TP	p.K672R	A	GGCTGGGGCAAACCTCCAGTG	NM_006842	NP_006833	65830517	Q13435	SF3B2_HUMAN	0			17	2055	+	G	G			Missense_Mutation	672						
SF3B2	0	broad.mit.edu	GRCh37	11	65836145	65836146	+	frameshift_variant,splice_region_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-12-0821-01	TCGA-12-0821-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322535.6:c.2625dupA	p.Arg876ThrfsTer16	p.R876Tfs*16	ENST00000322535	NM_006842.2	873	caa/cAaa	0	A:0.0009		1			A	Q/QX	uc001ogy.1	protein_coding	YES	CCDS31612.1			2617-2618/2688									ovary(2)|breast(1)	3	c.(2617-2619)CAAfs			Low_complexity_(Seg):seg,hmmpanther:PTHR12785,hmmpanther:PTHR12785:SF6	splicing factor 3B subunit 2			A:0.0001	ENSP00000318861		22/22	0.000247	0.000195				4.55E-05	0.00222	0.000124	rs759211171	22/22	.		ENST00000322535	Transcript			interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	ENSG00000087365	g.chr11:65836145_65836146insA	10769	8		HIGH								--	--	1																																OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	PACS1_uc001ogz.1_5'Flank|PACS1_uc001oha.1_5'Flank		1			p.Q873fs	NM_006842	NP_006833				SF3B2_HUMAN	SF3B2	HGNC	Q13435	SF3B2_HUMAN			E9PIL8_HUMAN		22	2657_2658	+			UPI00001C1F20	873					insertion	SF3B2,frameshift_variant,p.Arg859ThrfsTer16,ENST00000528302,;SF3B2,frameshift_variant,p.Arg876ThrfsTer16,ENST00000322535,NM_006842.2;SF3B2,frameshift_variant,p.Arg296ThrfsTer16,ENST00000530981,;RP11-1167A19.2,intron_variant,,ENST00000529036,;PACS1,upstream_gene_variant,,ENST00000320580,NM_018026.3;SF3B2,downstream_gene_variant,,ENST00000534765,;PACS1,upstream_gene_variant,,ENST00000527224,;	uc001ogy.1	c.2617_2618insA	2666-2667/2903	5	5			c.2617_2618insA						11	INS	c.(2617-2619)CAAfs	29	29			ovary(2)|breast(1)	3	Broad	splicing factor 3B subunit 2			65836146		0.515	ENSG00000087365	13931	g.chr11:65836145_65836146insA	interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding																				0.02	1	0	0	1	1	0	0	0	0	--	--		0	A	OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	PACS1_uc001ogz.1_5'Flank|PACS1_uc001oha.1_5'Flank	123	GBM-12-0821-TP	p.Q873fs	-	CCCTATACAGCAAAAAAAACGG	NM_006842	NP_006833	65836145	Q13435	SF3B2_HUMAN	0			22	2657_2658	+	A	A			Frame_Shift_Ins	873						
SFI1	9814		GRCh37	22	31985517	31985517	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000400288.2:c.1498C>T	p.Arg500Cys	p.R500C	ENST00000400288	NM_001007467.2	500	Cgc/Tgc	0																																																																																																																																																																																																																																												
SFN	0	broad.mit.edu	GRCh37	1	27190037	27190037	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-28-5215-01	TCGA-28-5215-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339276.4:c.334G>T	p.Gly112Trp	p.G112W	ENST00000339276	NM_006142.3	112	Ggg/Tgg	0			1			T	G/W	uc001bnc.1	protein_coding	YES	CCDS288.1			334/747										0	c.(334-336)GGG>TGG			Gene3D:3iquA00,Pfam_domain:PF00244,PIRSF_domain:PIRSF000868,hmmpanther:PTHR18860,hmmpanther:PTHR18860:SF14,SMART_domains:SM00101,Superfamily_domains:SSF48445	stratifin				ENSP00000340989		1-Jan									COSM3400648	1-Jan	.		ENST00000339276	Transcript			DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity	ENSG00000175793	g.chr1:27190037G>T	10773			MODERATE		1.795	low	getma.org/?cm=msa&ty=f&p=1433S_HUMAN&rb=3&re=238&var=G112W	getma.org/pdb.php?prot=1433S_HUMAN&from=3&to=238&var=G112W	getma.org/?cm=var&var=hg19,1,27190037,G,T&fts=all	G112W	--	--	1																																		uc010ofi.1_RNA	1	1		probably_damaging(0.923)	p.G112W	NM_006142	NP_006133		deleterious_low_confidence(0)	1	1433S_HUMAN	SFN	HGNC	P31947	1433S_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)			1	405	+		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	UPI000004D117	112					SNV	SFN,missense_variant,p.Gly112Trp,ENST00000339276,NM_006142.3;	uc001bnc.1	c.334G>T	405/1315	2	2			c.334G>T						1	SNP	c.(334-336)GGG>TGG	29	29				0	Broad	stratifin			27190037		0.637	ENSG00000175793	13939	g.chr1:27190037G>T	DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity							-8.768332	KEEP	2	2	0.5	35	51	2	2	0.5	8.97091	35	51	0.04878	1	0	0	0	0	1	0	0	0	--	--		0	T			uc010ofi.1_RNA	222	GBM-28-5215-TP	p.G112W	G	CAAGGAGGCCGGGGACGCCGA	NM_006142	NP_006133	27190037	P31947	1433S_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)	1	405	+	T	T		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	Missense_Mutation	112						
SFPQ	6421		GRCh37	1	35656550	35656550	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000357214.5:c.1064del	p.Thr355AsnfsTer3	p.T355Nfs*3	ENST00000357214	NM_005066.2	355	aCa/aa	0																																																																																																																																																																																																																																												
SFSWAP	0	broad.mit.edu	GRCh37	12	132281734	132281736	+	inframe_deletion	In_Frame_Del	DEL	AGA	AGA	-			TCGA-14-0790-01	TCGA-14-0790-01	AGA	AGA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261674.4:c.2558_2560delAGA	p.Lys853del	p.K853del	ENST00000261674	NM_004592.3	849	gAGAag/gag	0	-:0.0191	-:0	1	-:0		-	EK/E	uc001uja.1	protein_coding		CCDS9273.1			2546-2548/2856										0	c.(2545-2550)GAGAAG>GAG			Low_complexity_(Seg):seg,hmmpanther:PTHR13161:SF15,hmmpanther:PTHR13161	splicing factor, arginine/serine-rich 8		-:0.002	-:0.0181	ENSP00000261674	-:0.001	16/18									rs372337364	16/18	.		ENST00000261674	Transcript		-:0.0006	mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	ENSG00000061936	g.chr12:132281734_132281736delAGA	10790	12		MODERATE								--	--	1																																		SFRS8_uc010tbn.1_In_Frame_Del_p.K905del					p.K853del	NM_004592	NP_004583	-:0			SFSWA_HUMAN	SFSWAP	HGNC	Q12872	SFSWA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)	F5H5X1_HUMAN		16	2686_2688	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		UPI0000167B32	853			Poly-Lys.|Arg/Ser-rich (RS domain).		deletion	SFSWAP,inframe_deletion,p.Lys853del,ENST00000261674,NM_004592.3;SFSWAP,inframe_deletion,p.Lys905del,ENST00000541286,NM_001261411.1;RNA5SP378,downstream_gene_variant,,ENST00000363646,;SFSWAP,non_coding_transcript_exon_variant,,ENST00000539506,;SFSWAP,non_coding_transcript_exon_variant,,ENST00000537582,;	uc001uja.1	c.2546_2548delAGA	2687-2689/3246	5	5			c.2546_2548delAGA						12	DEL	c.(2545-2550)GAGAAG>GAG	25	25				0	Broad	splicing factor, arginine/serine-rich 8			132281736		0.493	ENSG00000061936	13962	g.chr12:132281734_132281736delAGA	mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding																				0.02	1	1	0	1	0	0	0	0	0	--	--		0	-			SFRS8_uc010tbn.1_In_Frame_Del_p.K905del	137	GBM-14-0790-TP	p.K853del	AGA	AGTCCCCACGAGAAGAAGAAGAA	NM_004592	NP_004583	132281734	Q12872	SFSWA_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)	16	2686_2688	+	-	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		In_Frame_Del	853			Poly-Lys.|Arg/Ser-rich (RS domain).			
SFSWAP	0	broad.mit.edu	GRCh37	12	132249171	132249171	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-76-4929-01	TCGA-76-4929-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261674.4:c.1891T>A	p.Cys631Ser	p.C631S	ENST00000261674	NM_004592.3	631	Tgt/Agt	0			1			A	C/S	uc001uja.1	protein_coding		CCDS9273.1			1891/2856										0	c.(1891-1893)TGT>AGT			Low_complexity_(Seg):seg,hmmpanther:PTHR13161:SF15,hmmpanther:PTHR13161	splicing factor, arginine/serine-rich 8				ENSP00000261674		18-Dec									COSM3398535	18-Dec	.		ENST00000261674	Transcript			mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	ENSG00000061936	g.chr12:132249171T>A	10790			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=SFSWA_HUMAN&rb=551&re=950&var=C631S	NA	getma.org/?cm=var&var=hg19,12,132249171,T,A&fts=all	C631S	--	--	1																																		SFRS8_uc010tbn.1_Missense_Mutation_p.C631S|SFRS8_uc001ujb.1_Missense_Mutation_p.C424S	1			benign(0.01)	p.C631S	NM_004592	NP_004583		tolerated(0.35)	1	SFSWA_HUMAN	SFSWAP	HGNC	Q12872	SFSWA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)	F5H5X1_HUMAN		12	2031	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		UPI0000167B32	631					SNV	SFSWAP,missense_variant,p.Cys424Ser,ENST00000535236,;SFSWAP,missense_variant,p.Cys631Ser,ENST00000261674,NM_004592.3;SFSWAP,missense_variant,p.Cys631Ser,ENST00000541286,NM_001261411.1;SFSWAP,intron_variant,,ENST00000537164,;SFSWAP,3_prime_UTR_variant,,ENST00000538548,;	uc001uja.1	c.1891T>A	2032/3246	1	1			c.1891T>A						12	SNP	c.(1891-1893)TGT>AGT	59	59				0	Broad	splicing factor, arginine/serine-rich 8			132249171		0.423	ENSG00000061936	13962	g.chr12:132249171T>A	mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding							-9.835832	KEEP	4	0	-1	46	39	4	0	-1	6.418671	46	39	0.041667	1	0	0	0	0	1	0	0	0	--	--		0	A			SFRS8_uc010tbn.1_Missense_Mutation_p.C631S|SFRS8_uc001ujb.1_Missense_Mutation_p.C424S	269	GBM-76-4929-TP	p.C631S	T	TGCCCCACCCTGTGTAGTTGT	NM_004592	NP_004583	132249171	Q12872	SFSWA_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)	12	2031	+	A	A	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		Missense_Mutation	631						
SFT2D1	113402	broad.mit.edu	GRCh37	6	166739646	166739646	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs11551053	byFrequency;by1000genomes	TCGA-06-0178-01	TCGA-06-0178-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361731.3:c.325A>G	p.Ile109Val	p.I109V	ENST00000361731	NM_145169.1	109	Ata/Gta	0	C:0.0334	C:0.0356	1	C:0.0793		C	I/V	uc003qux.2	protein_coding	YES	CCDS5292.1			325/480								p.I109V(1)	central_nervous_system(1)	1	c.(325-327)ATA>GTA			Transmembrane_helices:TMhelix,hmmpanther:PTHR23137:SF7,hmmpanther:PTHR23137,Pfam_domain:PF04178	SFT2 domain containing 1		C:0.3313	C:0.0353	ENSP00000354590	C:0.0398	8-May	0.0769	0.0349	0.108	0.329	0.0726	0.0414	0.111	0.0942	rs11551053,COSM42929	8-May	common_variant		ENST00000361731	Transcript		C:0.1112	protein transport|vesicle-mediated transport	integral to membrane		ENSG00000198818	g.chr6:166739646T>C	21102			MODERATE		-0.39	neutral	getma.org/?cm=msa&ty=f&p=SFT2A_HUMAN&rb=42&re=156&var=I109V	NA	getma.org/?cm=var&var=hg19,6,166739646,T,C&fts=all	I109V	--	--	1																																			0,1	1		benign(0.002)	p.I109V	NM_145169	NP_660152	C:0.0828	tolerated(1)	0,1	SFT2A_HUMAN	SFT2D1	HGNC	Q8WV19	SFT2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.63e-19)|BRCA - Breast invasive adenocarcinoma(81;4.92e-06)|GBM - Glioblastoma multiforme(31;4.58e-05)			5	355	-		Breast(66;0.000148)|Prostate(117;0.109)|Ovarian(120;0.199)	UPI00000722B1	109			Helical; Name=3; (Potential).		SNV	SFT2D1,missense_variant,p.Ile109Val,ENST00000361731,NM_145169.1;SFT2D1,non_coding_transcript_exon_variant,,ENST00000487841,;SFT2D1,non_coding_transcript_exon_variant,,ENST00000478705,;SFT2D1,non_coding_transcript_exon_variant,,ENST00000488773,;SFT2D1,non_coding_transcript_exon_variant,,ENST00000494682,;SFT2D1,upstream_gene_variant,,ENST00000479490,;	uc003qux.2	c.325A>G	435/1079	3	3			c.325A>G						6	SNP	c.(325-327)ATA>GTA	64	64		p.I109V(1)	central_nervous_system(1)	1	Broad	SFT2 domain containing 1			166739646		0.413	ENSG00000198818	13964	g.chr6:166739646T>C	protein transport|vesicle-mediated transport	integral to membrane								79.43785	KEEP	14	15	-1	21	17	14	15	-1	79.857379	21	17	0.412698	1	0	0	0	0	1	0	0	0	--	--		0	C				38	GBM-06-0178-TP	p.I109V	T	AGGGTAAATATGAAACACAAC	NM_145169	NP_660152	166739646	Q8WV19	SFT2A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(33;2.63e-19)|BRCA - Breast invasive adenocarcinoma(81;4.92e-06)|GBM - Glioblastoma multiforme(31;4.58e-05)	5	355	-	C	C		Breast(66;0.000148)|Prostate(117;0.109)|Ovarian(120;0.199)	Missense_Mutation	109			Helical; Name=3; (Potential).			
SFTPB	0	broad.mit.edu	GRCh37	2	85892915	85892915	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A			TCGA-15-1444-01	TCGA-15-1444-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393822.3:c.432C>T	p.Asp144=	p.D144=	ENST00000393822		144	gaC/gaT	0		A:0	1	A:0		A	D	uc002sqh.2	protein_coding	YES	CCDS1983.2			432/1182									ovary(1)|central_nervous_system(1)	2	c.(394-396)GAC>GAT			Gene3D:1.10.225.10,Pfam_domain:PF03489,PROSITE_profiles:PS50015,hmmpanther:PTHR11480,hmmpanther:PTHR11480:SF33,SMART_domains:SM00741,Superfamily_domains:SSF47862	surfactant, pulmonary-associated protein B		A:0		ENSP00000377409	A:0	12-Jun	8.24E-06							6.07E-05	rs529554098,COSM3408017	12-Jun	.		ENST00000393822	Transcript	1	A:0.0002	organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome		ENSG00000168878	g.chr2:85892915G>A	10801			LOW								--	--	1																																		SFTPB_uc002sqi.2_Silent_p.D144D|SFTPB_uc002sqj.2_Silent_p.D132D	0,1	1			p.D132D	NM_198843	NP_942140	A:0.001		0,1		SFTPB	HGNC	P07988	PSPB_HUMAN			D6W5L6_HUMAN		5	402	-			UPI0000421A06	132			Saposin B-type 1.		SNV	SFTPB,splice_region_variant,p.=,ENST00000393822,;SFTPB,splice_region_variant,p.=,ENST00000342375,NM_000542.3,NM_198843.2;SFTPB,splice_region_variant,p.=,ENST00000519937,;SFTPB,splice_region_variant,p.=,ENST00000409383,;SFTPB,splice_region_variant,p.=,ENST00000428225,;SFTPB,upstream_gene_variant,,ENST00000494165,;SFTPB,downstream_gene_variant,,ENST00000473692,;SFTPB,upstream_gene_variant,,ENST00000491167,;	uc002sqh.2	c.396C>T	532/3664	2	2			c.396C>T						2	SNP	c.(394-396)GAC>GAT	36	36			ovary(1)|central_nervous_system(1)	2	Broad	surfactant, pulmonary-associated protein B			85892915		0.642	ENSG00000168878	13968	g.chr2:85892915G>A	organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome								107.251312	KEEP	11	26	-1	35	25	11	26	-1	108.183702	35	25	0.393617	1	0	0	0	0	0	0	1	0	--	--		0	A			SFTPB_uc002sqi.2_Silent_p.D144D|SFTPB_uc002sqj.2_Silent_p.D132D	154	GBM-15-1444-TP	p.D132D	G	TGCCGTTTGAGTCCTGGGGCA	NM_198843	NP_942140	85892915	P07988	PSPB_HUMAN	0			5	402	-	A	A			Silent	132			Saposin B-type 1.			
SFTPC	6440	broad.mit.edu	GRCh37	8	22020183	22020183	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01	TCGA-06-5414-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318561.3:c.139G>A	p.Val47Ile	p.V47I	ENST00000318561	NM_001172410.1	47	Gtc/Atc	0			1			A	V/I	uc003xax.3	protein_coding	YES	CCDS43722.1			139/594										0	c.(139-141)GTC>ATC			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10800,Pfam_domain:PF08999,SMART_domains:SM00019	surfactant protein C precursor				ENSP00000316152		6-Feb	8.25E-06					1.50E-05			rs750172249,COSM3412913	6-Feb	.		ENST00000318561	Transcript	1		respiratory gaseous exchange	extracellular space		ENSG00000168484	g.chr8:22020183G>A	10802			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=PSPC_HUMAN&rb=1&re=93&var=V47I	NA	getma.org/?cm=var&var=hg19,8,22020183,G,A&fts=all	V47I	--	--	1																																		SFTPC_uc003xaw.3_Missense_Mutation_p.V96I|SFTPC_uc011kza.1_Missense_Mutation_p.V47I|SFTPC_uc003xaz.2_Missense_Mutation_p.V47I|SFTPC_uc003xay.3_Missense_Mutation_p.V47I|BMP1_uc011kzb.1_5'Flank|BMP1_uc003xba.2_5'Flank|BMP1_uc003xbb.2_5'Flank|BMP1_uc003xbe.2_5'Flank|BMP1_uc003xbc.2_5'Flank|BMP1_uc003xbd.2_5'Flank|BMP1_uc003xbf.2_5'Flank|BMP1_uc003xbg.2_5'Flank|BMP1_uc011kzc.1_5'Flank|BMP1_uc003xbh.2_5'Flank|BMP1_uc003xbi.2_5'Flank	0,1	1		probably_damaging(0.997)	p.V47I	NM_003018	NP_003009		deleterious(0.01)	0,1	PSPC_HUMAN	SFTPC	HGNC	P11686	PSPC_HUMAN		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)			2	297	+			UPI0000140371	47					SNV	SFTPC,missense_variant,p.Val47Ile,ENST00000521315,;SFTPC,missense_variant,p.Val47Ile,ENST00000318561,NM_001172410.1,NM_001172357.1,NM_003018.3;SFTPC,missense_variant,p.Val47Ile,ENST00000522109,;SFTPC,missense_variant,p.Val47Ile,ENST00000437090,;SFTPC,missense_variant,p.Val47Ile,ENST00000518615,;SFTPC,intron_variant,,ENST00000524255,;SFTPC,intron_variant,,ENST00000520605,;SFTPC,intron_variant,,ENST00000523296,;BMP1,upstream_gene_variant,,ENST00000306385,NM_006129.4;BMP1,upstream_gene_variant,,ENST00000354870,;BMP1,upstream_gene_variant,,ENST00000397816,;BMP1,upstream_gene_variant,,ENST00000306349,NM_001199.3;BMP1,upstream_gene_variant,,ENST00000397814,;SFTPC,non_coding_transcript_exon_variant,,ENST00000524318,;SFTPC,downstream_gene_variant,,ENST00000522880,;SFTPC,downstream_gene_variant,,ENST00000524350,;BMP1,upstream_gene_variant,,ENST00000520970,;BMP1,upstream_gene_variant,,ENST00000520626,;BMP1,upstream_gene_variant,,ENST00000520982,;BMP1,upstream_gene_variant,,ENST00000471755,;BMP1,upstream_gene_variant,,ENST00000518913,;BMP1,upstream_gene_variant,,ENST00000483364,;BMP1,upstream_gene_variant,,ENST00000521385,;BMP1,upstream_gene_variant,,ENST00000518656,;SFTPC,upstream_gene_variant,,ENST00000522630,;	uc003xax.3	c.139G>A	313/997	2	2			c.139G>A						8	SNP	c.(139-141)GTC>ATC	21	21				0	Broad	surfactant protein C precursor			22020183		0.597	ENSG00000168484	13969	g.chr8:22020183G>A	respiratory gaseous exchange	extracellular space								167.272183	KEEP	33	34	-1	60	69	33	34	-1	170.844117	60	69	0.346821	1	0	0	0	0	1	0	0	0	--	--		0	A			SFTPC_uc003xaw.3_Missense_Mutation_p.V96I|SFTPC_uc011kza.1_Missense_Mutation_p.V47I|SFTPC_uc003xaz.2_Missense_Mutation_p.V47I|SFTPC_uc003xay.3_Missense_Mutation_p.V47I|BMP1_uc011kzb.1_5'Flank|BMP1_uc003xba.2_5'Flank|BMP1_uc003xbb.2_5'Flank|BMP1_uc003xbe.2_5'Flank|BMP1_uc003xbc.2_5'Flank|BMP1_uc003xbd.2_5'Flank|BMP1_uc003xbf.2_5'Flank|BMP1_uc003xbg.2_5'Flank|BMP1_uc011kzc.1_5'Flank|BMP1_uc003xbh.2_5'Flank|BMP1_uc003xbi.2_5'Flank	97	GBM-06-5414-TP	p.V47I	G	GGTCCTCATCGTCGTGGTGAT	NM_003018	NP_003009	22020183	P11686	PSPC_HUMAN	0		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	2	297	+	A	A			Missense_Mutation	47						
SFTPC	0	broad.mit.edu	GRCh37	8	22020147	22020147	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1034-01	TCGA-14-1034-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318561.3:c.103C>T	p.Arg35Cys	p.R35C	ENST00000318561	NM_001172410.1	35	Cgc/Tgc	0	T:0.0002	T:0.0008	1	T:0		T	R/C	uc003xax.3	protein_coding	YES	CCDS43722.1			103/594										0	c.(103-105)CGC>TGC			hmmpanther:PTHR10800,Pfam_domain:PF08999,SMART_domains:SM00019	surfactant protein C precursor		T:0	T:0	ENSP00000316152	T:0	6-Feb	4.13E-05	0.000204	0.000173			1.50E-05			rs199854076,COSM2155237	6-Feb	.		ENST00000318561	Transcript	1	T:0.0002	respiratory gaseous exchange	extracellular space		ENSG00000168484	g.chr8:22020147C>T	10802			MODERATE		2.075	medium	getma.org/?cm=msa&ty=f&p=PSPC_HUMAN&rb=1&re=93&var=R35C	NA	getma.org/?cm=var&var=hg19,8,22020147,C,T&fts=all	R35C	--	--	1																																		SFTPC_uc003xaw.3_Missense_Mutation_p.R84C|SFTPC_uc011kza.1_Missense_Mutation_p.R35C|SFTPC_uc003xaz.2_Missense_Mutation_p.R35C|SFTPC_uc003xay.3_Missense_Mutation_p.R35C|BMP1_uc011kzb.1_5'Flank|BMP1_uc003xba.2_5'Flank|BMP1_uc003xbb.2_5'Flank|BMP1_uc003xbe.2_5'Flank|BMP1_uc003xbc.2_5'Flank|BMP1_uc003xbd.2_5'Flank|BMP1_uc003xbf.2_5'Flank|BMP1_uc003xbg.2_5'Flank|BMP1_uc011kzc.1_5'Flank|BMP1_uc003xbh.2_5'Flank|BMP1_uc003xbi.2_5'Flank	0,1	1		probably_damaging(0.999)	p.R35C	NM_003018	NP_003009	T:0	tolerated(0.15)	0,1	PSPC_HUMAN	SFTPC	HGNC	P11686	PSPC_HUMAN		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)			2	261	+			UPI0000140371	35					SNV	SFTPC,missense_variant,p.Arg35Cys,ENST00000521315,;SFTPC,missense_variant,p.Arg35Cys,ENST00000318561,NM_001172410.1,NM_001172357.1,NM_003018.3;SFTPC,missense_variant,p.Arg35Cys,ENST00000522109,;SFTPC,missense_variant,p.Arg35Cys,ENST00000437090,;SFTPC,missense_variant,p.Arg35Cys,ENST00000518615,;SFTPC,intron_variant,,ENST00000524255,;SFTPC,intron_variant,,ENST00000520605,;SFTPC,intron_variant,,ENST00000523296,;BMP1,upstream_gene_variant,,ENST00000306385,NM_006129.4;BMP1,upstream_gene_variant,,ENST00000354870,;BMP1,upstream_gene_variant,,ENST00000397816,;BMP1,upstream_gene_variant,,ENST00000306349,NM_001199.3;BMP1,upstream_gene_variant,,ENST00000397814,;SFTPC,non_coding_transcript_exon_variant,,ENST00000524318,;SFTPC,downstream_gene_variant,,ENST00000522880,;SFTPC,downstream_gene_variant,,ENST00000524350,;BMP1,upstream_gene_variant,,ENST00000520970,;BMP1,upstream_gene_variant,,ENST00000520626,;BMP1,upstream_gene_variant,,ENST00000520982,;BMP1,upstream_gene_variant,,ENST00000471755,;BMP1,upstream_gene_variant,,ENST00000518913,;BMP1,upstream_gene_variant,,ENST00000483364,;BMP1,upstream_gene_variant,,ENST00000521385,;BMP1,upstream_gene_variant,,ENST00000518656,;SFTPC,upstream_gene_variant,,ENST00000522630,;	uc003xax.3	c.103C>T	277/997	2	2			c.103C>T						8	SNP	c.(103-105)CGC>TGC	29	29				0	Broad	surfactant protein C precursor			22020147		0.602	ENSG00000168484	13969	g.chr8:22020147C>T	respiratory gaseous exchange	extracellular space								181.819026	KEEP	41	28	-1	65	42	41	28	-1	183.174159	65	42	0.4	1	0	0	0	0	1	0	0	0	--	--		0	T			SFTPC_uc003xaw.3_Missense_Mutation_p.R84C|SFTPC_uc011kza.1_Missense_Mutation_p.R35C|SFTPC_uc003xaz.2_Missense_Mutation_p.R35C|SFTPC_uc003xay.3_Missense_Mutation_p.R35C|BMP1_uc011kzb.1_5'Flank|BMP1_uc003xba.2_5'Flank|BMP1_uc003xbb.2_5'Flank|BMP1_uc003xbe.2_5'Flank|BMP1_uc003xbc.2_5'Flank|BMP1_uc003xbd.2_5'Flank|BMP1_uc003xbf.2_5'Flank|BMP1_uc003xbg.2_5'Flank|BMP1_uc011kzc.1_5'Flank|BMP1_uc003xbh.2_5'Flank|BMP1_uc003xbi.2_5'Flank	142	GBM-14-1034-TP	p.R35C	C	GCACCTGAAACGCCTTCTTAT	NM_003018	NP_003009	22020147	P11686	PSPC_HUMAN	0		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	2	261	+	T	T			Missense_Mutation	35						
SFTPC	6440		GRCh37	8	22020640	22020640	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000318561.3:c.249C>T	p.Ala83=	p.A83=	ENST00000318561	NM_001172410.1	83	gcC/gcT	0																																																																																																																																																																																																																																												
SGCA	0	broad.mit.edu	GRCh37	17	48245006	48245006	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01	TCGA-27-2519-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262018.3:c.221G>A	p.Arg74Gln	p.R74Q	ENST00000262018	NM_000023.2	74	cGg/cAg	0			1			A	R/Q	uc002iqi.2	protein_coding	YES	CCDS32679.1			221/1164									ovary(2)	2	c.(220-222)CGG>CAG			Superfamily_domains:SSF49313,SMART_domains:SM00736,Pfam_domain:PF05510,Gene3D:2.60.40.10,hmmpanther:PTHR10132:SF1,hmmpanther:PTHR10132	sarcoglycan, alpha isoform 1 precursor				ENSP00000262018		10-Mar	7.41E-05	0.000197	0.000261					0.000243	rs779439298,COSM3402988	10-Mar	.		ENST00000262018	Transcript	1		muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding	ENSG00000108823	g.chr17:48245006G>A	10805			MODERATE		1.01	low	getma.org/?cm=msa&ty=f&p=SGCA_HUMAN&rb=6&re=387&var=R74Q	NA	getma.org/?cm=var&var=hg19,17,48245006,G,A&fts=all	R74Q	--	--	1																																		SGCA_uc010wmh.1_Intron|SGCA_uc002iqj.2_Missense_Mutation_p.R74Q|SGCA_uc010wmi.1_RNA	0,1	1		benign(0.037)	p.R74Q	NM_000023	NP_000014		tolerated(0.28)	0,1	SGCA_HUMAN	SGCA	HGNC	Q16586	SGCA_HUMAN					3	257	+			UPI0000135907	74		R -> W (in LGMD2D).	Extracellular (Potential).		SNV	SGCA,missense_variant,p.Arg74Gln,ENST00000262018,NM_000023.2;SGCA,missense_variant,p.Arg74Gln,ENST00000543315,;SGCA,missense_variant,p.Arg74Gln,ENST00000344627,NM_001135697.1;SGCA,intron_variant,,ENST00000451235,;SGCA,intron_variant,,ENST00000511303,;SGCA,upstream_gene_variant,,ENST00000504073,;RP11-893F2.14,upstream_gene_variant,,ENST00000572855,;SGCA,intron_variant,,ENST00000513942,;HILS1,downstream_gene_variant,,ENST00000504307,;SGCA,upstream_gene_variant,,ENST00000508382,;SGCA,missense_variant,p.Arg74Gln,ENST00000513821,;SGCA,synonymous_variant,p.=,ENST00000512526,;SGCA,intron_variant,,ENST00000502555,;SGCA,intron_variant,,ENST00000514934,;HILS1,downstream_gene_variant,,ENST00000340499,;HILS1,downstream_gene_variant,,ENST00000545329,;	uc002iqi.2	c.221G>A	257/1432	2	2			c.221G>A						17	SNP	c.(220-222)CGG>CAG	40	40			ovary(2)	2	Broad	sarcoglycan, alpha isoform 1 precursor			48245006		0.657	ENSG00000108823	13976	g.chr17:48245006G>A	muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding							68.874607	KEEP	16	19	-1	29	35	16	19	-1	70.772537	29	35	0.328767	1	0	0	0	0	1	0	0	0	--	--		0	A			SGCA_uc010wmh.1_Intron|SGCA_uc002iqj.2_Missense_Mutation_p.R74Q|SGCA_uc010wmi.1_RNA	199	GBM-27-2519-TP	p.R74Q	G	GACCTGCCCCGGTGGCTCCGC	NM_000023	NP_000014	48245006	Q16586	SGCA_HUMAN	0			3	257	+	A	A			Missense_Mutation	74		R -> W (in LGMD2D).	Extracellular (Potential).			
SGCA	0	broad.mit.edu	GRCh37	17	48246591	48246591	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-87-5896-01	TCGA-87-5896-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262018.3:c.723C>T	p.Arg241=	p.R241=	ENST00000262018	NM_000023.2	241	cgC/cgT	0			1			T	R	uc002iqi.2	protein_coding	YES	CCDS32679.1			723/1164									ovary(2)	2	c.(721-723)CGC>CGT			Pfam_domain:PF05510,hmmpanther:PTHR10132:SF1,hmmpanther:PTHR10132	sarcoglycan, alpha isoform 1 precursor				ENSP00000262018		10-Jun	8.24E-06					1.51E-05			rs750636856,COSM3402989,COSM3402990	10-Jun	.		ENST00000262018	Transcript	1		muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding	ENSG00000108823	g.chr17:48246591C>T	10805			LOW								--	--	1																																OREG0024558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	SGCA_uc010wmh.1_Silent_p.R139R|SGCA_uc002iqj.2_Intron|SGCA_uc010wmi.1_RNA|uc010dbn.1_5'Flank	0,1,1	1			p.R241R	NM_000023	NP_000014			0,1,1	SGCA_HUMAN	SGCA	HGNC	Q16586	SGCA_HUMAN					6	759	+			UPI0000135907	241			Extracellular (Potential).		SNV	SGCA,splice_region_variant,,ENST00000543315,;SGCA,synonymous_variant,p.=,ENST00000262018,NM_000023.2;SGCA,synonymous_variant,p.=,ENST00000451235,;SGCA,intron_variant,,ENST00000344627,NM_001135697.1;SGCA,intron_variant,,ENST00000504073,;SGCA,intron_variant,,ENST00000511303,;RP11-893F2.14,upstream_gene_variant,,ENST00000572855,;SGCA,intron_variant,,ENST00000513942,;HILS1,downstream_gene_variant,,ENST00000504307,;SGCA,upstream_gene_variant,,ENST00000508382,;SGCA,synonymous_variant,p.=,ENST00000513821,;SGCA,3_prime_UTR_variant,,ENST00000502555,;SGCA,intron_variant,,ENST00000512526,;SGCA,downstream_gene_variant,,ENST00000514934,;HILS1,downstream_gene_variant,,ENST00000340499,;HILS1,downstream_gene_variant,,ENST00000545329,;	uc002iqi.2	c.723C>T	759/1432	1	1			c.723C>T						17	SNP	c.(721-723)CGC>CGT	8	8			ovary(2)	2	Broad	sarcoglycan, alpha isoform 1 precursor			48246591		0.662	ENSG00000108823	13976	g.chr17:48246591C>T	muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding							25.169973	KEEP	3	7	-1	11	6	3	7	-1	25.498794	11	6	0.375	1	0	0	0	0	0	0	1	0	--	--		0	T	OREG0024558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	SGCA_uc010wmh.1_Silent_p.R139R|SGCA_uc002iqj.2_Intron|SGCA_uc010wmi.1_RNA|uc010dbn.1_5'Flank	291	GBM-87-5896-TP	p.R241R	C	CCCACTTCCGCGTTGACTGGT	NM_000023	NP_000014	48246591	Q16586	SGCA_HUMAN	0			6	759	+	T	T			Silent	241			Extracellular (Potential).			
SGCD	6444	broad.mit.edu	GRCh37	5	155935645	155935645	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0155-01	TCGA-06-0155-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337851.4:c.227G>T	p.Gly76Val	p.G76V	ENST00000337851	NM_000337.5	76	gGt/gTt	0			1			T	G/V	uc003lwd.3	protein_coding		CCDS47327.1			224/870										0	c.(223-225)GGT>GTT			hmmpanther:PTHR12939:SF6,hmmpanther:PTHR12939,Pfam_domain:PF04790	delta-sarcoglycan isoform 3				ENSP00000403003		8-Mar									COSM3246064,COSM3410047	8-Mar	.		ENST00000435422	Transcript	1		cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		ENSG00000170624	g.chr5:155935645G>T	10807			MODERATE		2.485	medium	getma.org/?cm=msa&ty=f&p=SGCD_HUMAN&rb=21&re=282&var=G75V	NA	getma.org/?cm=var&var=hg19,5,155935645,G,T&fts=all	G75V	--	--	1																																		SGCD_uc003lwa.1_Missense_Mutation_p.G76V|SGCD_uc003lwb.2_Missense_Mutation_p.G76V|SGCD_uc003lwc.3_Missense_Mutation_p.G76V	1,1			probably_damaging(0.997)	p.G75V	NM_001128209	NP_001121681		deleterious(0)	1,1	SGCD_HUMAN	SGCD	HGNC	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)				3	700	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	UPI000013E845	75			Extracellular (Potential).		SNV	SGCD,missense_variant,p.Gly75Val,ENST00000435422,NM_001128209.1;SGCD,missense_variant,p.Gly76Val,ENST00000337851,NM_000337.5;SGCD,missense_variant,p.Gly76Val,ENST00000447401,NM_172244.2;SGCD,missense_variant,p.Gly76Val,ENST00000517913,;SGCD,3_prime_UTR_variant,,ENST00000524347,;	uc003lwd.3	c.224G>T	711/9755	1	1			c.224G>T						5	SNP	c.(223-225)GGT>GTT	13	13				0	Broad	delta-sarcoglycan isoform 3			155935645		0.418	ENSG00000170624	13978	g.chr5:155935645G>T	cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma								67.910897	KEEP	13	11	0.541666667	18	20	13	11	0.541666667	68.454637	18	20	0.396552	1	0	0	0	0	1	0	0	0	--	--		0	T			SGCD_uc003lwa.1_Missense_Mutation_p.G76V|SGCD_uc003lwb.2_Missense_Mutation_p.G76V|SGCD_uc003lwc.3_Missense_Mutation_p.G76V	27	GBM-06-0155-TP	p.G75V	G	ACAGAAAAAGGTCTAAAGCTA	NM_001128209	NP_001121681	155935645	Q92629	SGCD_HUMAN	0	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	700	+	T	T	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Missense_Mutation	75			Extracellular (Potential).			
SGCD	6444	broad.mit.edu	GRCh37	5	156186311	156186311	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2562-01	TCGA-06-2562-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337851.4:c.783C>T	p.Phe261=	p.F261=	ENST00000337851	NM_000337.5	261	ttC/ttT	0			1			T	F	uc003lwd.3	protein_coding		CCDS47327.1			780/870										0	c.(778-780)TTC>TTT			hmmpanther:PTHR12939:SF6,hmmpanther:PTHR12939,Pfam_domain:PF04790	delta-sarcoglycan isoform 3				ENSP00000403003		8-Aug	8.27E-06					1.50E-05			rs768741617,COSM3410048	8-Aug	.		ENST00000435422	Transcript	1		cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		ENSG00000170624	g.chr5:156186311C>T	10807			LOW								--	--	1																																		SGCD_uc003lwc.3_Silent_p.F261F	0,1				p.F260F	NM_001128209	NP_001121681			0,1	SGCD_HUMAN	SGCD	HGNC	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)				8	1256	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	UPI000013E845	260			Extracellular (Potential).		SNV	SGCD,synonymous_variant,p.=,ENST00000435422,NM_001128209.1;SGCD,synonymous_variant,p.=,ENST00000337851,NM_000337.5;SGCD,downstream_gene_variant,,ENST00000447401,NM_172244.2;SGCD,downstream_gene_variant,,ENST00000517913,;	uc003lwd.3	c.780C>T	1267/9755	2	2			c.780C>T						5	SNP	c.(778-780)TTC>TTT	20	20				0	Broad	delta-sarcoglycan isoform 3			156186311		0.488	ENSG00000170624	13978	g.chr5:156186311C>T	cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma								210.049121	KEEP	44	38	-1	85	70	44	38	-1	214.568054	85	70	0.34434	1	0	0	0	0	0	0	1	0	--	--		0	T			SGCD_uc003lwc.3_Silent_p.F261F	85	GBM-06-2562-TP	p.F260F	C	AGAAGGTCTTCGAGATCTGCG	NM_001128209	NP_001121681	156186311	Q92629	SGCD_HUMAN	0	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		8	1256	+	T	T	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Silent	260			Extracellular (Potential).			
SGIP1	84251	broad.mit.edu	GRCh37	1	67194966	67194966	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01	TCGA-06-0122-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371037.4:c.1762G>A	p.Gly588Arg	p.G588R	ENST00000371037	NM_032291.2	588	Gga/Aga	0			1			A	G/R	uc001dcr.2	protein_coding	YES	CCDS30744.1			1762/2487									ovary(3)	3	c.(1762-1764)GGA>AGA			Pfam_domain:PF10291,hmmpanther:PTHR23065:SF5,hmmpanther:PTHR23065,PROSITE_profiles:PS51072	SH3-domain GRB2-like (endophilin) interacting				ENSP00000360076		20/25									COSM2149186,COSM3400967,COSM2149187,COSM2149188	20/25	.		ENST00000371037	Transcript			positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	ENSG00000118473	g.chr1:67194966G>A	25412			MODERATE		3.06	medium	getma.org/?cm=msa&ty=f&p=SGIP1_HUMAN&rb=559&re=827&var=G588R	NA	getma.org/?cm=var&var=hg19,1,67194966,G,A&fts=all	G588R	--	--	1																																		SGIP1_uc010opd.1_Missense_Mutation_p.G188R|SGIP1_uc001dcs.2_Missense_Mutation_p.G188R|SGIP1_uc001dct.2_Missense_Mutation_p.G190R|SGIP1_uc009wat.2_Missense_Mutation_p.G382R|SGIP1_uc001dcu.2_Missense_Mutation_p.G93R	1,1,1,1	1		probably_damaging(1)	p.G588R	NM_032291	NP_115667		deleterious(0)	1,1,1,1	SGIP1_HUMAN	SGIP1	HGNC	Q9BQI5	SGIP1_HUMAN					20	1979	+			UPI000045891B	588					SNV	SGIP1,missense_variant,p.Gly588Arg,ENST00000371037,NM_032291.2;SGIP1,missense_variant,p.Gly390Arg,ENST00000371036,;SGIP1,missense_variant,p.Gly391Arg,ENST00000371039,;SGIP1,missense_variant,p.Gly619Arg,ENST00000237247,;SGIP1,missense_variant,p.Gly93Arg,ENST00000435165,;SGIP1,missense_variant,p.Gly378Arg,ENST00000371035,;AL354978.1,downstream_gene_variant,,ENST00000408728,;	uc001dcr.2	c.1762G>A	1839/7768	2	2			c.1762G>A						1	SNP	c.(1762-1764)GGA>AGA	34	34			ovary(3)	3	Broad	SH3-domain GRB2-like (endophilin) interacting			67194966		0.423	ENSG00000118473	13983	g.chr1:67194966G>A	positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding							121.180728	KEEP	24	17	-1	32	32	24	17	-1	121.977489	32	32	0.40404	1	0	0	0	0	1	0	0	0	--	--		0	A			SGIP1_uc010opd.1_Missense_Mutation_p.G188R|SGIP1_uc001dcs.2_Missense_Mutation_p.G188R|SGIP1_uc001dct.2_Missense_Mutation_p.G190R|SGIP1_uc009wat.2_Missense_Mutation_p.G382R|SGIP1_uc001dcu.2_Missense_Mutation_p.G93R	10	GBM-06-0122-TP	p.G588R	G	TAAGATTACCGGAGAAATGGT	NM_032291	NP_115667	67194966	Q9BQI5	SGIP1_HUMAN	0			20	1979	+	A	A			Missense_Mutation	588						
SGIP1	84251	broad.mit.edu	GRCh37	1	67133216	67133216	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01	TCGA-06-0169-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371037.4:c.475C>T	p.Arg159Cys	p.R159C	ENST00000371037	NM_032291.2	159	Cgc/Tgc	0		T:0.0008	1	T:0		T	R/C	uc001dcr.2	protein_coding	YES	CCDS30744.1			475/2487									ovary(3)	3	c.(475-477)CGC>TGC			Low_complexity_(Seg):seg,hmmpanther:PTHR23065:SF5,hmmpanther:PTHR23065	SH3-domain GRB2-like (endophilin) interacting		T:0		ENSP00000360076	T:0	25-Sep	7.41E-05	9.62E-05	0.00026	0.000116		4.50E-05		6.06E-05	rs556202457,COSM2150284,COSM3400966	25-Sep	.		ENST00000371037	Transcript		T:0.0002	positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	ENSG00000118473	g.chr1:67133216C>T	25412			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=SGIP1_HUMAN&rb=1&re=424&var=R159C	NA	getma.org/?cm=var&var=hg19,1,67133216,C,T&fts=all	R159C	--	--	1																																		SGIP1_uc010opd.1_5'UTR|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|uc010ope.1_Intron	0,1,1	1		probably_damaging(0.982)	p.R159C	NM_032291	NP_115667	T:0	deleterious(0)	0,1,1	SGIP1_HUMAN	SGIP1	HGNC	Q9BQI5	SGIP1_HUMAN					9	692	+			UPI000045891B	159					SNV	SGIP1,missense_variant,p.Arg159Cys,ENST00000371037,NM_032291.2;SGIP1,missense_variant,p.Arg163Cys,ENST00000237247,;SGIP1,missense_variant,p.Arg116Cys,ENST00000371035,;SGIP1,intron_variant,,ENST00000371036,;SGIP1,intron_variant,,ENST00000371039,;AL139147.1,intron_variant,,ENST00000502413,;SGIP1,intron_variant,,ENST00000424320,;SGIP1,intron_variant,,ENST00000468286,;SGIP1,upstream_gene_variant,,ENST00000480548,;	uc001dcr.2	c.475C>T	552/7768	1	1			c.475C>T						1	SNP	c.(475-477)CGC>TGC	13	13			ovary(3)	3	Broad	SH3-domain GRB2-like (endophilin) interacting			67133216		0.418	ENSG00000118473	13983	g.chr1:67133216C>T	positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding							174.889191	KEEP	44	37	-1	110	111	44	37	-1	189.67349	110	111	0.254613	1	0	0	0	0	1	0	0	0	--	--		0	T			SGIP1_uc010opd.1_5'UTR|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|uc010ope.1_Intron	34	GBM-06-0169-TP	p.R159C	C	ATCACAGAGGCGCAGCCCGGT	NM_032291	NP_115667	67133216	Q9BQI5	SGIP1_HUMAN	0			9	692	+	T	T			Missense_Mutation	159						
SGK1	6446	broad.mit.edu	GRCh37	6	134492161	134492161	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-02-2486-01	TCGA-02-2486-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367858.5:c.1323del	p.Phe441LeufsTer12	p.F441Lfs*12	ENST00000367858	NM_001143676.1	441	ttC/tt	0			1			-	F/X	uc003qen.3	protein_coding		CCDS5170.1			1038/1296									skin(3)|stomach(1)|lung(1)|central_nervous_system(1)	6	c.(1036-1038)TTCfs			Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF148,SMART_domains:SM00220,Superfamily_domains:SSF56112	serum/glucocorticoid regulated kinase 1 isoform				ENSP00000237305		12-Oct										12-Oct	.		ENST00000237305	Transcript			apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	ENSG00000118515	g.chr6:134492161delG	10810			HIGH								--	--	1																																		SGK1_uc003qeo.3_Frame_Shift_Del_p.F441fs|SGK1_uc011ect.1_Frame_Shift_Del_p.F336fs|SGK1_uc011ecu.1_Frame_Shift_Del_p.F302fs|SGK1_uc011ecv.1_Frame_Shift_Del_p.F360fs|SGK1_uc011ecw.1_Frame_Shift_Del_p.F374fs					p.F346fs	NM_005627	NP_005618				SGK1_HUMAN	SGK1	HGNC	O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	Q8IZV4_HUMAN,Q6AW81_HUMAN,B7Z1G1_HUMAN		10	1127	-	Colorectal(23;0.221)		UPI0000050C3D	346			Protein kinase.		deletion	SGK1,frameshift_variant,p.Phe441LeufsTer12,ENST00000367858,NM_001143676.1;SGK1,frameshift_variant,p.Phe360LeufsTer12,ENST00000413996,NM_001143678.1;SGK1,frameshift_variant,p.Phe336LeufsTer12,ENST00000367857,;SGK1,frameshift_variant,p.Phe346LeufsTer12,ENST00000237305,NM_005627.3;SGK1,frameshift_variant,p.Phe374LeufsTer12,ENST00000528577,NM_001143677.1;SGK1,frameshift_variant,p.Phe302LeufsTer12,ENST00000475719,;SGK1,downstream_gene_variant,,ENST00000461976,;SGK1,downstream_gene_variant,,ENST00000489458,;SGK1,downstream_gene_variant,,ENST00000524387,;SGK1,downstream_gene_variant,,ENST00000531575,;SGK1,splice_region_variant,,ENST00000477460,;SGK1,non_coding_transcript_exon_variant,,ENST00000474427,;SGK1,non_coding_transcript_exon_variant,,ENST00000367855,;SGK1,non_coding_transcript_exon_variant,,ENST00000531782,;SGK1,downstream_gene_variant,,ENST00000490149,;SGK1,downstream_gene_variant,,ENST00000534658,;SGK1,downstream_gene_variant,,ENST00000532021,;SGK1,downstream_gene_variant,,ENST00000475882,;SGK1,downstream_gene_variant,,ENST00000530421,;SGK1,downstream_gene_variant,,ENST00000532856,;SGK1,downstream_gene_variant,,ENST00000473704,;SGK1,downstream_gene_variant,,ENST00000525877,;SGK1,downstream_gene_variant,,ENST00000525700,;SGK1,downstream_gene_variant,,ENST00000472859,;SGK1,downstream_gene_variant,,ENST00000524764,;	uc003qen.3	c.1038delC	1127/2401	5	5			c.1038delC						6	DEL	c.(1036-1038)TTCfs	32	32			skin(3)|stomach(1)|lung(1)|central_nervous_system(1)	6	Broad	serum/glucocorticoid regulated kinase 1 isoform			134492161		0.527	ENSG00000118515	13984	g.chr6:134492161delG	apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			161			161														0.26	1	1	0	1	0	0	0	0	0	--	--		0	-			SGK1_uc003qeo.3_Frame_Shift_Del_p.F441fs|SGK1_uc011ect.1_Frame_Shift_Del_p.F336fs|SGK1_uc011ecu.1_Frame_Shift_Del_p.F302fs|SGK1_uc011ecv.1_Frame_Shift_Del_p.F360fs|SGK1_uc011ecw.1_Frame_Shift_Del_p.F374fs	8	GBM-02-2486-TP	p.F346fs	G	CATCACTCACGAAGTCATCCT	NM_005627	NP_005618	134492161	O00141	SGK1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	10	1127	-	-	-	Colorectal(23;0.221)		Frame_Shift_Del	346			Protein kinase.			
SGK1	6446	broad.mit.edu	GRCh37	6	134493370	134493370	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0646-01	TCGA-06-0646-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367858.5:c.1032A>G	p.Glu344=	p.E344=	ENST00000367858	NM_001143676.1	344	gaA/gaG	0			1			C	E	uc003qen.3	protein_coding		CCDS5170.1			747/1296									skin(3)|stomach(1)|lung(1)|central_nervous_system(1)	6	c.(745-747)GAA>GAG			Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF148,SMART_domains:SM00220,Superfamily_domains:SSF56112	serum/glucocorticoid regulated kinase 1 isoform				ENSP00000237305		12-Aug									COSM3410601,COSM3410602,COSM3410598,COSM3410600,COSM3410599	12-Aug	.		ENST00000237305	Transcript			apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	ENSG00000118515	g.chr6:134493370T>C	10810			LOW								--	--	1																																		SGK1_uc003qeo.3_Silent_p.E344E|SGK1_uc011ect.1_Silent_p.E239E|SGK1_uc011ecu.1_Silent_p.E205E|SGK1_uc011ecv.1_Silent_p.E263E|SGK1_uc011ecw.1_Silent_p.E277E	1,1,1,1,1				p.E249E	NM_005627	NP_005618			1,1,1,1,1	SGK1_HUMAN	SGK1	HGNC	O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	Q8IZV4_HUMAN,Q6AW81_HUMAN,B7Z1G1_HUMAN		8	836	-	Colorectal(23;0.221)		UPI0000050C3D	249			Protein kinase.		SNV	SGK1,synonymous_variant,p.=,ENST00000367858,NM_001143676.1;SGK1,synonymous_variant,p.=,ENST00000413996,NM_001143678.1;SGK1,synonymous_variant,p.=,ENST00000367857,;SGK1,synonymous_variant,p.=,ENST00000237305,NM_005627.3;SGK1,synonymous_variant,p.=,ENST00000528577,NM_001143677.1;SGK1,synonymous_variant,p.=,ENST00000475719,;SGK1,downstream_gene_variant,,ENST00000461976,;SGK1,non_coding_transcript_exon_variant,,ENST00000489458,;SGK1,downstream_gene_variant,,ENST00000531575,;SGK1,downstream_gene_variant,,ENST00000524387,;SGK1,non_coding_transcript_exon_variant,,ENST00000474427,;SGK1,non_coding_transcript_exon_variant,,ENST00000367855,;SGK1,non_coding_transcript_exon_variant,,ENST00000477460,;SGK1,non_coding_transcript_exon_variant,,ENST00000531782,;SGK1,non_coding_transcript_exon_variant,,ENST00000525877,;SGK1,downstream_gene_variant,,ENST00000490149,;SGK1,downstream_gene_variant,,ENST00000534658,;SGK1,downstream_gene_variant,,ENST00000532021,;SGK1,downstream_gene_variant,,ENST00000475882,;SGK1,downstream_gene_variant,,ENST00000530421,;SGK1,downstream_gene_variant,,ENST00000532856,;SGK1,upstream_gene_variant,,ENST00000473704,;SGK1,downstream_gene_variant,,ENST00000525700,;SGK1,downstream_gene_variant,,ENST00000472859,;SGK1,downstream_gene_variant,,ENST00000524764,;	uc003qen.3	c.747A>G	836/2401	3	3			c.747A>G						6	SNP	c.(745-747)GAA>GAG	60	60			skin(3)|stomach(1)|lung(1)|central_nervous_system(1)	6	Broad	serum/glucocorticoid regulated kinase 1 isoform			134493370		0.468	ENSG00000118515	13984	g.chr6:134493370T>C	apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			161			161	-76.058532	KEEP	2	1	-1	141	169	2	1	-1	6.347517	141	169	0.010067	1	0	0	0	0	0	0	1	0	--	--		0	C			SGK1_uc003qeo.3_Silent_p.E344E|SGK1_uc011ect.1_Silent_p.E239E|SGK1_uc011ecu.1_Silent_p.E205E|SGK1_uc011ecv.1_Silent_p.E263E|SGK1_uc011ecw.1_Silent_p.E277E	60	GBM-06-0646-TP	p.E249E	T	TGCTGTTGTGTTCAATGTTCT	NM_005627	NP_005618	134493370	O00141	SGK1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	8	836	-	C	C	Colorectal(23;0.221)		Silent	249			Protein kinase.			
SGK1	6446	broad.mit.edu	GRCh37	6	134493394	134493394	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2557-01	TCGA-06-2557-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367858.5:c.1008C>T	p.Phe336=	p.F336=	ENST00000367858	NM_001143676.1	336	ttC/ttT	0	A:0	A:0	1	A:0		A	F	uc003qen.3	protein_coding		CCDS5170.1			723/1296									skin(3)|stomach(1)|lung(1)|central_nervous_system(1)	6	c.(721-723)TTC>TTT			Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF148,SMART_domains:SM00220,Superfamily_domains:SSF56112	serum/glucocorticoid regulated kinase 1 isoform		A:0	A:0.0001	ENSP00000237305	A:0.001	12-Aug	2.47E-05					4.50E-05			rs201259463,COSM2152532,COSM2152533,COSM2152529,COSM2152531,COSM2152530	12-Aug	.		ENST00000237305	Transcript		A:0.0002	apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	ENSG00000118515	g.chr6:134493394G>A	10810			LOW								--	--	1																																		SGK1_uc003qeo.3_Silent_p.F336F|SGK1_uc011ect.1_Silent_p.F231F|SGK1_uc011ecu.1_Silent_p.F197F|SGK1_uc011ecv.1_Silent_p.F255F|SGK1_uc011ecw.1_Silent_p.F269F	0,1,1,1,1,1				p.F241F	NM_005627	NP_005618	A:0		0,1,1,1,1,1	SGK1_HUMAN	SGK1	HGNC	O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	Q8IZV4_HUMAN,Q6AW81_HUMAN,B7Z1G1_HUMAN		8	812	-	Colorectal(23;0.221)		UPI0000050C3D	241			Protein kinase.		SNV	SGK1,synonymous_variant,p.=,ENST00000367858,NM_001143676.1;SGK1,synonymous_variant,p.=,ENST00000413996,NM_001143678.1;SGK1,synonymous_variant,p.=,ENST00000367857,;SGK1,synonymous_variant,p.=,ENST00000237305,NM_005627.3;SGK1,synonymous_variant,p.=,ENST00000528577,NM_001143677.1;SGK1,synonymous_variant,p.=,ENST00000475719,;SGK1,downstream_gene_variant,,ENST00000461976,;SGK1,non_coding_transcript_exon_variant,,ENST00000489458,;SGK1,downstream_gene_variant,,ENST00000524387,;SGK1,downstream_gene_variant,,ENST00000531575,;SGK1,non_coding_transcript_exon_variant,,ENST00000474427,;SGK1,non_coding_transcript_exon_variant,,ENST00000367855,;SGK1,non_coding_transcript_exon_variant,,ENST00000477460,;SGK1,non_coding_transcript_exon_variant,,ENST00000531782,;SGK1,non_coding_transcript_exon_variant,,ENST00000525877,;SGK1,downstream_gene_variant,,ENST00000490149,;SGK1,downstream_gene_variant,,ENST00000534658,;SGK1,downstream_gene_variant,,ENST00000532021,;SGK1,downstream_gene_variant,,ENST00000475882,;SGK1,downstream_gene_variant,,ENST00000530421,;SGK1,downstream_gene_variant,,ENST00000532856,;SGK1,upstream_gene_variant,,ENST00000473704,;SGK1,downstream_gene_variant,,ENST00000525700,;SGK1,downstream_gene_variant,,ENST00000472859,;SGK1,downstream_gene_variant,,ENST00000524764,;	uc003qen.3	c.723C>T	812/2401	2	2			c.723C>T						6	SNP	c.(721-723)TTC>TTT	24	24			skin(3)|stomach(1)|lung(1)|central_nervous_system(1)	6	Broad	serum/glucocorticoid regulated kinase 1 isoform			134493394		0.448	ENSG00000118515	13984	g.chr6:134493394G>A	apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity		p.F241F(CAL851-Tumor)	161		p.F241F(CAL851-Tumor)	161	390.213627	KEEP	64	57	-1	51	38	64	57	-1	391.682849	51	38	0.591133	1	0	0	0	0	0	0	1	0	--	--		0	A			SGK1_uc003qeo.3_Silent_p.F336F|SGK1_uc011ect.1_Silent_p.F231F|SGK1_uc011ecu.1_Silent_p.F197F|SGK1_uc011ecv.1_Silent_p.F255F|SGK1_uc011ecw.1_Silent_p.F269F	81	GBM-06-2557-TP	p.F241F	G	TGCAGAGTCCGAAGTCAGTAA	NM_005627	NP_005618	134493394	O00141	SGK1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	8	812	-	A	A	Colorectal(23;0.221)		Silent	241			Protein kinase.			
PRAG1	0	broad.mit.edu	GRCh37	8	8239066	8239066	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-12-0615-01	TCGA-12-0615-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000520004.1:c.192T>C	p.Pro64=	p.P64=	ENST00000520004		64	ccT/ccC	0			1			G	P	uc003wsh.3	protein_coding	YES	CCDS43706.1			192/4209										0	c.(190-192)CCT>CCC			Low_complexity_(Seg):seg,hmmpanther:PTHR22972:SF3,hmmpanther:PTHR22972	pragmin				ENSP00000428054		6-Feb									COSM3413137,COSM3413138	6-Feb	.		ENST00000520004	Transcript					ATP binding|non-membrane spanning protein tyrosine kinase activity	ENSG00000182319	g.chr8:8239066A>G				LOW								--	--	1																																			1,1	1			p.P64P	NM_001080826	NP_001074295			1,1	SG223_HUMAN	SGK223	Uniprot_gn	Q86YV5	SG223_HUMAN					1	192	-			UPI00001D82A6	64					SNV	SGK223,synonymous_variant,p.=,ENST00000520004,;SGK223,synonymous_variant,p.=,ENST00000330777,NM_001080826.1;	uc003wsh.3	c.192T>C	457/4891	4	4			c.192T>C						8	SNP	c.(190-192)CCT>CCC	20	20				0	Broad	pragmin			8239066		0.652	ENSG00000182319	13987	g.chr8:8239066A>G			ATP binding|non-membrane spanning protein tyrosine kinase activity	GBM(34;731 755 10259 33573 33867)		135	GBM(34;731 755 10259 33573 33867)		135	-21.369319	KEEP	1	2	-1	59	58	1	2	-1	6.334132	59	58	0.026786	1	0	0	0	0	0	0	1	0	--	--		0	G				117	GBM-12-0615-TP	p.P64P	A	GGCAGTTCTCAGGCCTGGGAG	NM_001080826	NP_001074295	8239066	Q86YV5	SG223_HUMAN	0			1	192	-	G	G			Silent	64						
PRAG1	0	broad.mit.edu	GRCh37	8	8235473	8235473	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-28-2509-01	TCGA-28-2509-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000520004.1:c.446C>A	p.Pro149His	p.P149H	ENST00000520004		149	cCt/cAt	0			1			T	P/H	uc003wsh.3	protein_coding	YES	CCDS43706.1			446/4209										0	c.(445-447)CCT>CAT			hmmpanther:PTHR22972:SF3,hmmpanther:PTHR22972	pragmin				ENSP00000428054		6-Mar									COSM3413135,COSM3413136	6-Mar	.		ENST00000520004	Transcript					ATP binding|non-membrane spanning protein tyrosine kinase activity	ENSG00000182319	g.chr8:8235473G>T				MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=SG223_HUMAN&rb=121&re=397&var=P149H	NA	getma.org/?cm=var&var=hg19,8,8235473,G,T&fts=all	P149H	--	--	1																																			1,1	1		benign(0.258)	p.P149H	NM_001080826	NP_001074295			1,1	SG223_HUMAN	SGK223	Uniprot_gn	Q86YV5	SG223_HUMAN					2	446	-			UPI00001D82A6	149					SNV	SGK223,missense_variant,p.Pro149His,ENST00000520004,;SGK223,missense_variant,p.Pro149His,ENST00000330777,NM_001080826.1;	uc003wsh.3	c.446C>A	711/4891	1	1			c.446C>A						8	SNP	c.(445-447)CCT>CAT	14	14				0	Broad	pragmin			8235473		0.642	ENSG00000182319	13987	g.chr8:8235473G>T			ATP binding|non-membrane spanning protein tyrosine kinase activity	GBM(34;731 755 10259 33573 33867)		135	GBM(34;731 755 10259 33573 33867)		135	63.552926	KEEP	15	19	0.441176471	84	69	15	19	0.441176471	77.559927	84	69	0.191083	1	0	0	0	0	1	0	0	0	--	--		0	T				211	GBM-28-2509-TP	p.P149H	G	ATTGCCATCAGGGGAGGTAGA	NM_001080826	NP_001074295	8235473	Q86YV5	SG223_HUMAN	0			2	446	-	T	T			Missense_Mutation	149						
PRAG1	0	broad.mit.edu	GRCh37	8	8234543	8234543	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5219-01	TCGA-28-5219-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000520004.1:c.1376G>A	p.Arg459Gln	p.R459Q	ENST00000520004		459	cGg/cAg	0		T:0	1	T:0		T	R/Q	uc003wsh.3	protein_coding	YES	CCDS43706.1			1376/4209										0	c.(1375-1377)CGG>CAG			hmmpanther:PTHR22972:SF3,hmmpanther:PTHR22972	pragmin		T:0.001		ENSP00000428054	T:0	6-Mar	3.30E-05			0.000349		1.52E-05			rs552652315,COSM3413133,COSM3413134	6-Mar	.		ENST00000520004	Transcript		T:0.0002			ATP binding|non-membrane spanning protein tyrosine kinase activity	ENSG00000182319	g.chr8:8234543C>T				MODERATE		1.01	low	getma.org/?cm=msa&ty=f&p=SG223_HUMAN&rb=398&re=597&var=R459Q	NA	getma.org/?cm=var&var=hg19,8,8234543,C,T&fts=all	R459Q	--	--	1																																			0,1,1	1		benign(0.002)	p.R459Q	NM_001080826	NP_001074295	T:0		0,1,1	SG223_HUMAN	SGK223	Uniprot_gn	Q86YV5	SG223_HUMAN					2	1376	-			UPI00001D82A6	459					SNV	SGK223,missense_variant,p.Arg459Gln,ENST00000520004,;SGK223,missense_variant,p.Arg459Gln,ENST00000330777,NM_001080826.1;	uc003wsh.3	c.1376G>A	1641/4891	2	2			c.1376G>A						8	SNP	c.(1375-1377)CGG>CAG	48	48				0	Broad	pragmin			8234543		0.622	ENSG00000182319	13987	g.chr8:8234543C>T			ATP binding|non-membrane spanning protein tyrosine kinase activity	GBM(34;731 755 10259 33573 33867)	p.R459L(YD10B-Tumor)	135	GBM(34;731 755 10259 33573 33867)	p.R459L(YD10B-Tumor)	135	-12.156446	KEEP	5	2	-1	64	67	5	2	-1	15.66154	64	67	0.05303	1	0	0	0	0	1	0	0	0	--	--		0	T				225	GBM-28-5219-TP	p.R459Q	C	TGGGCTGTCCCGGCCCCAGCC	NM_001080826	NP_001074295	8234543	Q86YV5	SG223_HUMAN	0			2	1376	-	T	T			Missense_Mutation	459						
SGMS2	0	broad.mit.edu	GRCh37	4	108831540	108831540	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01	TCGA-16-1045-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359079.4:c.929C>T	p.Ser310Phe	p.S310F	ENST00000359079	NM_001136257.1	310	tCt/tTt	0			1			T	S/F	uc003hyl.3	protein_coding		CCDS3677.1			929/1098									lung(1)	1	c.(928-930)TCT>TTT			hmmpanther:PTHR21290:SF24,hmmpanther:PTHR21290	sphingomyelin synthase 2	Choline(DB00122)			ENSP00000351981		6-Jun									COSM3408976	6-Jun	.		ENST00000359079	Transcript			sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	ENSG00000164023	g.chr4:108831540C>T	28395			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=SMS2_HUMAN&rb=294&re=365&var=S310F	NA	getma.org/?cm=var&var=hg19,4,108831540,C,T&fts=all	S310F	--	--	1																																		uc003hym.1_Intron|SGMS2_uc003hyn.2_Missense_Mutation_p.S310F|SGMS2_uc003hyo.2_Missense_Mutation_p.S310F	1			possibly_damaging(0.51)	p.S310F	NM_001136258	NP_001129730		deleterious(0)	1	SMS2_HUMAN	SGMS2	HGNC	Q8NHU3	SMS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	E5RJU3_HUMAN,E5RJ63_HUMAN,E5RGG5_HUMAN		7	1484	+			UPI000000D9A6	310			Cytoplasmic (Potential).		SNV	SGMS2,missense_variant,p.Ser310Phe,ENST00000394684,NM_001136258.1;SGMS2,missense_variant,p.Ser310Phe,ENST00000394686,NM_152621.5;SGMS2,missense_variant,p.Ser310Phe,ENST00000359079,NM_001136257.1;SGMS2,downstream_gene_variant,,ENST00000503862,;RP11-286E11.1,non_coding_transcript_exon_variant,,ENST00000513071,;RP11-286E11.1,intron_variant,,ENST00000499098,;SGMS2,downstream_gene_variant,,ENST00000504754,;	uc003hyl.3	c.929C>T	1318/1887	1	1			c.929C>T						4	SNP	c.(928-930)TCT>TTT	16	16			lung(1)	1	Broad	sphingomyelin synthase 2		Choline(DB00122)	108831540		0.388	ENSG00000164023	13992	g.chr4:108831540C>T	sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity							9.781666	KEEP	6	16	-1	110	105	6	16	-1	44.755202	110	105	0.088235	1	0	0	0	0	1	0	0	0	--	--		0	T			uc003hym.1_Intron|SGMS2_uc003hyn.2_Missense_Mutation_p.S310F|SGMS2_uc003hyo.2_Missense_Mutation_p.S310F	157	GBM-16-1045-TP	p.S310F	C	AATTTCTTATCTCGAGCATGG	NM_001136258	NP_001129730	108831540	Q8NHU3	SMS2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	7	1484	+	T	T			Missense_Mutation	310			Cytoplasmic (Potential).			
SGOL1	0	broad.mit.edu	GRCh37	3	20225255	20225255	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-5213-01	TCGA-28-5213-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263753.4:c.184A>G	p.Lys62Glu	p.K62E	ENST00000263753	NM_001012410.3	62	Aaa/Gaa	0			1			C	K/E	uc003cbs.2	protein_coding	YES	CCDS33716.1			184/1686										0	c.(184-186)AAA>GAA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21577,Pfam_domain:PF07558	shugoshin-like 1 isoform A2				ENSP00000263753		9-Mar									COSM3408561	9-Mar	.		ENST00000263753	Transcript			attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding	ENSG00000129810	g.chr3:20225255T>C	25088			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=SGOL1_HUMAN&rb=22&re=67&var=K62E	getma.org/pdb.php?prot=SGOL1_HUMAN&from=22&to=67&var=K62E	getma.org/?cm=var&var=hg19,3,20225255,T,C&fts=all	K62E	--	--	1																																		SGOL1_uc003cbr.2_Missense_Mutation_p.K62E|SGOL1_uc010hfa.2_Missense_Mutation_p.K62E|SGOL1_uc003cbt.2_Missense_Mutation_p.K62E|SGOL1_uc003cbu.2_Missense_Mutation_p.K62E|SGOL1_uc003cbv.2_Missense_Mutation_p.K62E|SGOL1_uc003cbw.2_Missense_Mutation_p.K62E|SGOL1_uc003cbx.2_Missense_Mutation_p.K62E|SGOL1_uc003cby.2_Missense_Mutation_p.K62E|SGOL1_uc003cbz.2_Missense_Mutation_p.K62E|SGOL1_uc003cca.2_Missense_Mutation_p.K62E|SGOL1_uc003ccb.2_Missense_Mutation_p.K62E|SGOL1_uc003ccc.2_Missense_Mutation_p.K62E	1	1		benign(0.403)	p.K62E	NM_001012410	NP_001012410		deleterious(0)	1	SGOL1_HUMAN	SGOL1	HGNC	Q5FBB7	SGOL1_HUMAN					3	371	-			UPI00004CE17A	62			Potential.|Necessary for interaction with PPP2CA and PPP2R1A.		SNV	SGOL1,missense_variant,p.Lys62Glu,ENST00000412997,NM_001199251.1;SGOL1,missense_variant,p.Lys62Glu,ENST00000263753,NM_001012410.3,NM_001199252.1;SGOL1,missense_variant,p.Lys62Glu,ENST00000442720,NM_001012413.2,NM_001199255.1;SGOL1,missense_variant,p.Lys62Glu,ENST00000421451,;SGOL1,missense_variant,p.Lys62Glu,ENST00000412868,NM_001012409.2;SGOL1,missense_variant,p.Lys62Glu,ENST00000419233,NM_001199254.1,NM_001012412.3;SGOL1,missense_variant,p.Lys62Glu,ENST00000306698,NM_138484.3,NM_001199256.1;SGOL1,missense_variant,p.Lys62Glu,ENST00000383774,NM_001199257.1;SGOL1,missense_variant,p.Lys62Glu,ENST00000425061,;SGOL1,missense_variant,p.Lys62Glu,ENST00000437051,NM_001012411.2;SGOL1,missense_variant,p.Lys62Glu,ENST00000452020,;SGOL1,missense_variant,p.Lys62Glu,ENST00000429446,;SGOL1,missense_variant,p.Lys62Glu,ENST00000417364,NM_001199253.1;SGOL1,missense_variant,p.Lys62Glu,ENST00000443724,;SGOL1-AS1,intron_variant,,ENST00000448208,;SGOL1-AS1,intron_variant,,ENST00000441442,;SGOL1,missense_variant,p.Lys62Glu,ENST00000456624,;	uc003cbs.2	c.184A>G	324/2338	3	3			c.184A>G						3	SNP	c.(184-186)AAA>GAA	52	52				0	Broad	shugoshin-like 1 isoform A2			20225255		0.294	ENSG00000129810	13993	g.chr3:20225255T>C	attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding							75.273933	KEEP	15	16	-1	50	66	15	16	-1	85.631161	50	66	0.215827	1	0	0	0	0	1	0	0	0	--	--		0	C			SGOL1_uc003cbr.2_Missense_Mutation_p.K62E|SGOL1_uc010hfa.2_Missense_Mutation_p.K62E|SGOL1_uc003cbt.2_Missense_Mutation_p.K62E|SGOL1_uc003cbu.2_Missense_Mutation_p.K62E|SGOL1_uc003cbv.2_Missense_Mutation_p.K62E|SGOL1_uc003cbw.2_Missense_Mutation_p.K62E|SGOL1_uc003cbx.2_Missense_Mutation_p.K62E|SGOL1_uc003cby.2_Missense_Mutation_p.K62E|SGOL1_uc003cbz.2_Missense_Mutation_p.K62E|SGOL1_uc003cca.2_Missense_Mutation_p.K62E|SGOL1_uc003ccb.2_Missense_Mutation_p.K62E|SGOL1_uc003ccc.2_Missense_Mutation_p.K62E	220	GBM-28-5213-TP	p.K62E	T	ACTAACATTTTGTTGTTGTCT	NM_001012410	NP_001012410	20225255	Q5FBB7	SGOL1_HUMAN	0			3	371	-	C	C			Missense_Mutation	62			Potential.|Necessary for interaction with PPP2CA and PPP2R1A.			
SGOL2	0	broad.mit.edu	GRCh37	2	201437521	201437521	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0168-01	TCGA-06-0168-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357799.4:c.2452A>G	p.Ile818Val	p.I818V	ENST00000357799	NM_152524.5	818	Ata/Gta	0			1			G	I/V	uc002uvw.2	protein_coding	YES	CCDS42796.1			2452/3798									ovary(2)|skin(2)	4	c.(2452-2454)ATA>GTA			hmmpanther:PTHR21577:SF2,hmmpanther:PTHR21577	shugoshin-like 2 isoform 1				ENSP00000350447		9-Jul	1.66E-05	0.000205							rs753461976,COSM2150217	9-Jul	.		ENST00000357799	Transcript			cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	ENSG00000163535	g.chr2:201437521A>G	30812			MODERATE		2.25	medium	getma.org/?cm=msa&ty=f&p=SGOL2_HUMAN&rb=1&re=1257&var=I818V	NA	getma.org/?cm=var&var=hg19,2,201437521,A,G&fts=all	I818V	--	--	1																																		SGOL2_uc010zhd.1_Missense_Mutation_p.I818V|SGOL2_uc010zhe.1_Missense_Mutation_p.I818V	0,1	1		benign(0.434)	p.I818V	NM_152524	NP_689737		tolerated(0.11)	0,1	SGOL2_HUMAN	SGOL2	HGNC	Q562F6	SGOL2_HUMAN			C9JW92_HUMAN		7	2565	+			UPI00001AEBF5	818					SNV	SGOL2,missense_variant,p.Ile818Val,ENST00000357799,NM_152524.5,NM_001160033.1,NM_001160046.1;SGOL2,downstream_gene_variant,,ENST00000409203,;	uc002uvw.2	c.2452A>G	2550/4214	4	4			c.2452A>G						2	SNP	c.(2452-2454)ATA>GTA	24	24			ovary(2)|skin(2)	4	Broad	shugoshin-like 2 isoform 1			201437521		0.348	ENSG00000163535	13994	g.chr2:201437521A>G	cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding							130.167647	KEEP	23	18	-1	60	55	23	18	-1	136.49881	60	55	0.276596	1	0	0	0	0	1	0	0	0	--	--		0	G			SGOL2_uc010zhd.1_Missense_Mutation_p.I818V|SGOL2_uc010zhe.1_Missense_Mutation_p.I818V	33	GBM-06-0168-TP	p.I818V	A	AAAGTCAGAAATAATTCCTGA	NM_152524	NP_689737	201437521	Q562F6	SGOL2_HUMAN	0			7	2565	+	G	G			Missense_Mutation	818						
SGOL2	0	broad.mit.edu	GRCh37	2	201437974	201437974	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01	TCGA-14-0789-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357799.4:c.2905G>A	p.Glu969Lys	p.E969K	ENST00000357799	NM_152524.5	969	Gaa/Aaa	0			1			A	E/K	uc002uvw.2	protein_coding	YES	CCDS42796.1			2905/3798									ovary(2)|skin(2)	4	c.(2905-2907)GAA>AAA			hmmpanther:PTHR21577:SF2,hmmpanther:PTHR21577	shugoshin-like 2 isoform 1				ENSP00000350447		9-Jul									COSM3407473	9-Jul	.		ENST00000357799	Transcript			cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	ENSG00000163535	g.chr2:201437974G>A	30812			MODERATE		1.01	low	getma.org/?cm=msa&ty=f&p=SGOL2_HUMAN&rb=1&re=1257&var=E969K	NA	getma.org/?cm=var&var=hg19,2,201437974,G,A&fts=all	E969K	--	--	1																																		SGOL2_uc010zhd.1_Missense_Mutation_p.E969K|SGOL2_uc010zhe.1_Missense_Mutation_p.E969K	1	1		benign(0.162)	p.E969K	NM_152524	NP_689737		tolerated(0.22)	1	SGOL2_HUMAN	SGOL2	HGNC	Q562F6	SGOL2_HUMAN			C9JW92_HUMAN		7	3018	+			UPI00001AEBF5	969					SNV	SGOL2,missense_variant,p.Glu969Lys,ENST00000357799,NM_152524.5,NM_001160033.1,NM_001160046.1;SGOL2,downstream_gene_variant,,ENST00000409203,;	uc002uvw.2	c.2905G>A	3003/4214	2	2			c.2905G>A						2	SNP	c.(2905-2907)GAA>AAA	47	47			ovary(2)|skin(2)	4	Broad	shugoshin-like 2 isoform 1			201437974		0.274	ENSG00000163535	13994	g.chr2:201437974G>A	cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding							35.992335	KEEP	8	9	-1	27	21	8	9	-1	39.404047	27	21	0.25	1	0	0	0	0	1	0	0	0	--	--		0	A			SGOL2_uc010zhd.1_Missense_Mutation_p.E969K|SGOL2_uc010zhe.1_Missense_Mutation_p.E969K	136	GBM-14-0789-TP	p.E969K	G	CAACAGTAATGAAAAGGAAAG	NM_152524	NP_689737	201437974	Q562F6	SGOL2_HUMAN	0			7	3018	+	A	A			Missense_Mutation	969						
SGPP2	130367	broad.mit.edu	GRCh37	2	223423423	223423423	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01	TCGA-06-5859-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321276.7:c.1006C>T	p.Leu336Phe	p.L336F	ENST00000321276	NM_152386.2	336	Ctc/Ttc	0			1			T	L/F	uc010zlo.1	protein_coding	YES	CCDS2453.1			1006/1200									central_nervous_system(1)|skin(1)	2	c.(1006-1008)CTC>TTC			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR14969:SF14,hmmpanther:PTHR14969	sphingosine-1-phosphate phosphotase 2				ENSP00000315137		5-May									COSM2153386	5-May	.		ENST00000321276	Transcript			sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity	ENSG00000163082	g.chr2:223423423C>T	19953			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=SGPP2_HUMAN&rb=240&re=399&var=L336F	NA	getma.org/?cm=var&var=hg19,2,223423423,C,T&fts=all	L336F	--	--	1																																		SGPP2_uc010zlp.1_Missense_Mutation_p.L208F	1	1		benign(0.049)	p.L336F	NM_152386	NP_689599		tolerated(0.11)	1	SGPP2_HUMAN	SGPP2	HGNC	Q8IWX5	SGPP2_HUMAN		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)	Q53QF5_HUMAN,Q4ZFX2_HUMAN,Q3B870_HUMAN		5	1006	+		Renal(207;0.0376)	UPI000004A1E3	336			Helical; (Potential).		SNV	SGPP2,missense_variant,p.Leu336Phe,ENST00000321276,NM_152386.2;	uc010zlo.1	c.1006C>T	1092/3336	2	2			c.1006C>T						2	SNP	c.(1006-1008)CTC>TTC	47	47			central_nervous_system(1)|skin(1)	2	Broad	sphingosine-1-phosphate phosphotase 2			223423423		0.478	ENSG00000163082	13997	g.chr2:223423423C>T	sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity							90.782185	KEEP	18	11	-1	22	26	18	11	-1	91.742698	22	26	0.378378	1	0	0	0	0	1	0	0	0	--	--		0	T			SGPP2_uc010zlp.1_Missense_Mutation_p.L208F	103	GBM-06-5859-TP	p.L336F	C	TGTGTTGATCCTCTTGGTTCG	NM_152386	NP_689599	223423423	Q8IWX5	SGPP2_HUMAN	0		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)	5	1006	+	T	T		Renal(207;0.0376)	Missense_Mutation	336			Helical; (Potential).			
SGPP2	0	broad.mit.edu	GRCh37	2	223339305	223339305	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs147179845		TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321276.7:c.238G>A	p.Val80Ile	p.V80I	ENST00000321276	NM_152386.2	80	Gtc/Atc	0			1			A	V/I	uc010zlo.1	protein_coding	YES	CCDS2453.1			238/1200									central_nervous_system(1)|skin(1)	2	c.(238-240)GTC>ATC			hmmpanther:PTHR14969:SF14,hmmpanther:PTHR14969	sphingosine-1-phosphate phosphotase 2				ENSP00000315137		5-Feb	3.29E-05	9.64E-05				4.50E-05			rs147179845,COSM3407609	5-Feb	.		ENST00000321276	Transcript			sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity	ENSG00000163082	g.chr2:223339305G>A	19953			MODERATE		0.075	neutral	getma.org/?cm=msa&ty=f&p=SGPP2_HUMAN&rb=1&re=117&var=V80I	NA	getma.org/?cm=var&var=hg19,2,223339305,G,A&fts=all	V80I	--	--	1																																		SGPP2_uc010zlp.1_5'UTR	0,1	1		benign(0.002)	p.V80I	NM_152386	NP_689599		tolerated(0.74)	0,1	SGPP2_HUMAN	SGPP2	HGNC	Q8IWX5	SGPP2_HUMAN		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)	Q53QF5_HUMAN,Q4ZFX2_HUMAN,Q3B870_HUMAN		2	238	+		Renal(207;0.0376)	UPI000004A1E3	80					SNV	SGPP2,missense_variant,p.Val80Ile,ENST00000321276,NM_152386.2;	uc010zlo.1	c.238G>A	324/3336	2	2			c.238G>A						2	SNP	c.(238-240)GTC>ATC	42	42			central_nervous_system(1)|skin(1)	2	Broad	sphingosine-1-phosphate phosphotase 2			223339305		0.363	ENSG00000163082	13997	g.chr2:223339305G>A	sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity							107.373374	KEEP	21	31	-1	70	89	21	31	-1	117.445235	70	89	0.245614	1	0	0	0	0	1	0	0	0	--	--		0	A			SGPP2_uc010zlp.1_5'UTR	235	GBM-32-2491-TP	p.V80I	G	ACAGAAGTACGTCGTGAAGAA	NM_152386	NP_689599	223339305	Q8IWX5	SGPP2_HUMAN	0		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)	2	238	+	A	A		Renal(207;0.0376)	Missense_Mutation	80						
SGSM1	129049	broad.mit.edu	GRCh37	22	25263061	25263061	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400359.4:c.928G>A	p.Val310Ile	p.V310I	ENST00000400359	NM_133454.2	310	Gtc/Atc	0	A:0		1			A	V/I	uc003abg.2	protein_coding	YES	CCDS46674.1			928/3447									ovary(2)|central_nervous_system(2)|pancreas(1)	5	c.(928-930)GTC>ATC			hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF187	RUN and TBC1 domain containing 2 isoform 1			A:0.0001	ENSP00000383212		26-Oct	3.31E-05		0.000186			3.11E-05			rs375323027,COSM4103111,COSM4103110	26-Oct	.		ENST00000400359	Transcript				Golgi apparatus	Rab GTPase activator activity	ENSG00000167037	g.chr22:25263061G>A	29410			MODERATE		0.75	neutral	getma.org/?cm=msa&ty=f&p=SGSM1_HUMAN&rb=189&re=388&var=V310I	NA	getma.org/?cm=var&var=hg19,22,25263061,G,A&fts=all	V310I	--	--	1																																		SGSM1_uc003abh.2_Missense_Mutation_p.V310I|SGSM1_uc010guu.1_Missense_Mutation_p.V310I|SGSM1_uc003abj.2_Missense_Mutation_p.V310I|SGSM1_uc003abi.1_Missense_Mutation_p.V285I	0,1,1	1		benign(0.391)	p.V310I	NM_001039948	NP_001035037		tolerated(0.2)	0,1,1	SGSM1_HUMAN	SGSM1	HGNC	Q2NKQ1	SGSM1_HUMAN					10	1085	+			UPI00006EB130	310			Required for interaction with RAP family members.		SNV	SGSM1,missense_variant,p.Val310Ile,ENST00000400358,NM_001098498.1,NM_001098497.1;SGSM1,missense_variant,p.Val310Ile,ENST00000400359,NM_133454.2,NM_001039948.2;SGSM1,splice_region_variant,,ENST00000473458,;SGSM1,splice_region_variant,,ENST00000480523,;	uc003abg.2	c.928G>A	935/4317	1	1			c.928G>A						22	SNP	c.(928-930)GTC>ATC	51	51			ovary(2)|central_nervous_system(2)|pancreas(1)	5	Broad	RUN and TBC1 domain containing 2 isoform 1			25263061		0.617	ENSG00000167037	13999	g.chr22:25263061G>A		Golgi apparatus	Rab GTPase activator activity							7.584895	KEEP	3	1	-1	15	10	3	1	-1	10.791018	15	10	0.148148	1	0	0	0	0	1	0	0	0	--	--		0	A			SGSM1_uc003abh.2_Missense_Mutation_p.V310I|SGSM1_uc010guu.1_Missense_Mutation_p.V310I|SGSM1_uc003abj.2_Missense_Mutation_p.V310I|SGSM1_uc003abi.1_Missense_Mutation_p.V285I	18	GBM-06-0137-TP	p.V310I	G	CGCTTCCAGCGTCTACTGGGA	NM_001039948	NP_001035037	25263061	Q2NKQ1	SGSM1_HUMAN	0			10	1085	+	A	A			Missense_Mutation	310			Required for interaction with RAP family members.			
SGSM1	129049	broad.mit.edu	GRCh37	22	25315903	25315903	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01	TCGA-06-0158-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400359.4:c.3301C>T	p.Arg1101Cys	p.R1101C	ENST00000400359	NM_133454.2	1101	Cgt/Tgt	0	T:0		1			T	R/C	uc003abg.2	protein_coding	YES	CCDS46674.1			3301/3447									ovary(2)|central_nervous_system(2)|pancreas(1)	5	c.(3301-3303)CGT>TGT			hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF187,Pfam_domain:PF00566,SMART_domains:SM00164,Superfamily_domains:SSF47923	RUN and TBC1 domain containing 2 isoform 1			T:0.0005	ENSP00000383212		25/26	0.000463	0.000113	0.000318		0.00114	0.000749			rs200983507,COSM3405557,COSM3405556	25/26	common_variant		ENST00000400359	Transcript				Golgi apparatus	Rab GTPase activator activity	ENSG00000167037	g.chr22:25315903C>T	29410			MODERATE		3.36	medium	getma.org/?cm=msa&ty=f&p=SGSM1_HUMAN&rb=915&re=1105&var=R1101C	getma.org/pdb.php?prot=SGSM1_HUMAN&from=915&to=1105&var=R1101C	getma.org/?cm=var&var=hg19,22,25315903,C,T&fts=all	R1101C	--	--	1																																		SGSM1_uc003abh.2_Missense_Mutation_p.R1040C|SGSM1_uc010guu.1_Missense_Mutation_p.R1046C|SGSM1_uc003abj.2_Missense_Mutation_p.R985C|SGSM1_uc003abi.1_Missense_Mutation_p.R1021C	0,1,1	1		probably_damaging(1)	p.R1101C	NM_001039948	NP_001035037		deleterious(0)	0,1,1	SGSM1_HUMAN	SGSM1	HGNC	Q2NKQ1	SGSM1_HUMAN					25	3458	+			UPI00006EB130	1101					SNV	SGSM1,missense_variant,p.Arg1046Cys,ENST00000400358,NM_001098498.1,NM_001098497.1;SGSM1,missense_variant,p.Arg1101Cys,ENST00000400359,NM_133454.2,NM_001039948.2;SGSM1,non_coding_transcript_exon_variant,,ENST00000473458,;SGSM1,non_coding_transcript_exon_variant,,ENST00000480523,;	uc003abg.2	c.3301C>T	3308/4317	1	1			c.3301C>T						22	SNP	c.(3301-3303)CGT>TGT	11	11			ovary(2)|central_nervous_system(2)|pancreas(1)	5	Broad	RUN and TBC1 domain containing 2 isoform 1			25315903		0.507	ENSG00000167037	13999	g.chr22:25315903C>T		Golgi apparatus	Rab GTPase activator activity							17.239431	KEEP	4	5	-1	30	26	4	5	-1	23.825724	30	26	0.155172	1	0	0	0	0	1	0	0	0	--	--		0	T			SGSM1_uc003abh.2_Missense_Mutation_p.R1040C|SGSM1_uc010guu.1_Missense_Mutation_p.R1046C|SGSM1_uc003abj.2_Missense_Mutation_p.R985C|SGSM1_uc003abi.1_Missense_Mutation_p.R1021C	29	GBM-06-0158-TP	p.R1101C	C	GGAAGTCTACCGTGACATCAT	NM_001039948	NP_001035037	25315903	Q2NKQ1	SGSM1_HUMAN	0			25	3458	+	T	T			Missense_Mutation	1101						
SGSM2	9905		GRCh37	17	2276367	2276367	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000268989.3:c.1909A>G	p.Met637Val	p.M637V	ENST00000268989	NM_014853.2	637	Atg/Gtg	0																																																																																																																																																																																																																																												
SH2B2	0	broad.mit.edu	GRCh37	7	101943880	101943880	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-2554-01	TCGA-14-2554-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000536178.1:c.175G>A	p.Val59Ile	p.V59I	ENST00000536178		59	Gtc/Atc	0			1			A	V/I	uc011kko.1	protein_coding	YES				175/2016										0	c.(175-177)GTC>ATC			hmmpanther:PTHR10872,hmmpanther:PTHR10872:SF4,Low_complexity_(Seg):seg	SH2B adaptor protein 2				ENSP00000440273		10-Feb									COSM3411415,COSM3411416	10-Feb	.		ENST00000536178	Transcript			blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity	ENSG00000160999	g.chr7:101943880G>A	17381			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=F5GY53_HUMAN&rb=1&re=200&var=V59I	NA	getma.org/?cm=var&var=hg19,7,101943880,G,A&fts=all	V59I	--	--	1																																			1,1	1		benign(0.152)	p.V59I	NM_020979	NP_066189		tolerated(0.42)	1,1		SH2B2	HGNC	O14492	SH2B2_HUMAN			F5GY53_HUMAN,C9JK89_HUMAN		2	220	+			UPI0002064F59	16					SNV	SH2B2,missense_variant,p.Val59Ile,ENST00000536178,;SH2B2,missense_variant,p.Val16Ile,ENST00000306803,;SH2B2,missense_variant,p.Val16Ile,ENST00000444095,;	uc011kko.1	c.175G>A	220/2061	1	1			c.175G>A						7	SNP	c.(175-177)GTC>ATC	56	56				0	Broad	SH2B adaptor protein 2			101943880		0.473	ENSG00000160999	14005	g.chr7:101943880G>A	blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity							6.419928	KEEP	3	2	-1	15	15	3	2	-1	7.672986	15	15	0.2	1	0	0	0	0	1	0	0	0	--	--		0	A				150	GBM-14-2554-TP	p.V59I	G	cccggtcccagtcccggtccc	NM_020979	NP_066189	101943880	O14492	SH2B2_HUMAN	0			2	220	+	A	A			Missense_Mutation	16						
SH2B2	10603	broad.mit.edu	GRCh37	7	101926060	101926060	+	upstream_gene_variant	5'Flank	SNP	C	C	T			TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.				ENST00000536178				0			1			T		uc003uyt.2	protein_coding	YES				-/2016									ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8	c.(1957-1959)TGC>TGT	2345			cut-like homeobox 1 isoform b				ENSP00000440273			3.30E-05			0.000355		1.58E-05			rs781838453,COSM3411414		.		ENST00000536178	Transcript			negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000160999	g.chr7:101926060C>T	17381			MODIFIER								--	--	1																																		CUX1_uc011kkn.1_Silent_p.C614C|CUX1_uc003uyw.2_Silent_p.C607C|CUX1_uc003uyv.2_Silent_p.C637C|CUX1_uc003uyu.2_Silent_p.C651C|CUX1_uc003uyz.2_RNA|SH2B2_uc011kko.1_5'Flank	0,1	1			p.C653C	NM_001913	NP_001904			0,1		SH2B2	HGNC	P39880	CUX1_HUMAN			F5GY53_HUMAN,C9JK89_HUMAN		22	1978	+			UPI0002064F59	Error:Variant_position_missing_in_P39880_after_alignment					SNV	CUX1,synonymous_variant,p.=,ENST00000437600,NM_181500.2;CUX1,synonymous_variant,p.=,ENST00000292538,NM_001913.3;CUX1,synonymous_variant,p.=,ENST00000547394,NM_001202544.1;CUX1,synonymous_variant,p.=,ENST00000425244,NM_001202545.1;CUX1,synonymous_variant,p.=,ENST00000393824,NM_001202546.1;CUX1,synonymous_variant,p.=,ENST00000487284,;SH2B2,upstream_gene_variant,,ENST00000536178,;SH2B2,upstream_gene_variant,,ENST00000444095,;CUX1,non_coding_transcript_exon_variant,,ENST00000560541,;CUX1,non_coding_transcript_exon_variant,,ENST00000558836,;	uc003uyt.2	c.1959C>T	-/2061	2	2			c.1959C>T						7	SNP	c.(1957-1959)TGC>TGT	47	47			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8	Broad	cut-like homeobox 1 isoform b			101926060		0.662	ENSG00000160999	3991	g.chr7:101926060C>T	negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							22.190142	KEEP	12	6	-1	49	50	12	6	-1	34.231261	49	50	0.142857	1	0	0	0	0	0	0	1	0	--	--		0	T			CUX1_uc011kkn.1_Silent_p.C614C|CUX1_uc003uyw.2_Silent_p.C607C|CUX1_uc003uyv.2_Silent_p.C637C|CUX1_uc003uyu.2_Silent_p.C651C|CUX1_uc003uyz.2_RNA|SH2B2_uc011kko.1_5'Flank	218	GBM-28-5209-TP	p.C653C	C	CCACCTTCTGCGCCAAGAAGT	NM_001913	NP_001904	101926060	P39880	CUX1_HUMAN	0			22	1978	+	T	T			Silent	Error:Variant_position_missing_in_P39880_after_alignment						
SH2D1A	4068	broad.mit.edu	GRCh37	X	123504148	123504149	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-06-0209-01	TCGA-06-0209-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371139.4:c.325dup	p.Arg109LysfsTer14	p.R109Kfs*14	ENST00000371139	NM_001114937.2	108	-/A	0			1			A	-/X	uc004euf.3	protein_coding	YES	CCDS14608.1			324-325/387										0	c.(322-327)GCTAGAfs			hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF123,PIRSF_domain:PIRSF037828	SH2 domain protein 1A isoform 1				ENSP00000360181		4-Mar										4-Mar	.	X-linked_Lymphoproliferative_syndrome	ENST00000371139	Transcript	1		cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity	ENSG00000183918	g.chrX:123504148_123504149insA	10820	1		HIGH								--	--	1																																		SH2D1A_uc004euh.3_Frame_Shift_Ins_p.A108fs|SH2D1A_uc004eug.3_RNA|SH2D1A_uc010nqw.2_RNA|SH2D1A_uc004eui.3_RNA|SH2D1A_uc010nqx.2_RNA		1			p.A108fs	NM_002351	NP_002342				SH21A_HUMAN	SH2D1A	HGNC	O60880	SH21A_HUMAN					3	669_670	+			UPI0000000D0B	108_109					insertion	SH2D1A,frameshift_variant,p.Arg109LysfsTer14,ENST00000371139,NM_001114937.2,NM_002351.4;SH2D1A,frameshift_variant,p.Arg109LysfsTer11,ENST00000360027,;SH2D1A,3_prime_UTR_variant,,ENST00000477673,;SH2D1A,non_coding_transcript_exon_variant,,ENST00000491950,;SH2D1A,non_coding_transcript_exon_variant,,ENST00000494073,;STAG2,intron_variant,,ENST00000469481,;	uc004euf.3	c.324_325insA	623-624/2450	5	5			c.324_325insA						23	INS	c.(322-327)GCTAGAfs	49	49				0	Broad	SH2 domain protein 1A isoform 1			123504149	X-linked_Lymphoproliferative_syndrome	0.371	ENSG00000183918	14007	g.chrX:123504148_123504149insA	cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity																				0.19	1	0	0	1	1	0	0	0	0	--	--		0	A			SH2D1A_uc004euh.3_Frame_Shift_Ins_p.A108fs|SH2D1A_uc004eug.3_RNA|SH2D1A_uc010nqw.2_RNA|SH2D1A_uc004eui.3_RNA|SH2D1A_uc010nqx.2_RNA	46	GBM-06-0209-TP	p.A108fs	-	AGTCCTCAGCTAGAAGTACACA	NM_002351	NP_002342	123504148	O60880	SH21A_HUMAN	0			3	669_670	+	A	A			Frame_Shift_Ins	108_109						
SH2D1B	117157	broad.mit.edu	GRCh37	1	162368789	162368789	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-5413-01	TCGA-06-5413-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367929.2:c.287A>G	p.His96Arg	p.H96R	ENST00000367929	NM_053282.4	96	cAc/cGc	0			1			C	H/R	uc001gbz.1	protein_coding	YES	CCDS30928.1			287/399									pancreas(1)	1	c.(286-288)CAC>CGC			Gene3D:3.30.505.10,PROSITE_profiles:PS50001,hmmpanther:PTHR11200,Superfamily_domains:SSF55550	SH2 domain containing 1B				ENSP00000356906		4-Mar									COSM2153184	4-Mar	.		ENST00000367929	Transcript						ENSG00000198574	g.chr1:162368789T>C	30416			MODERATE		0.02	neutral	getma.org/?cm=msa&ty=f&p=SH21B_HUMAN&rb=5&re=101&var=H96R	getma.org/pdb.php?prot=SH21B_HUMAN&from=5&to=101&var=H96R	getma.org/?cm=var&var=hg19,1,162368789,T,C&fts=all	H96R	--	--	1																																		SH2D1B_uc001gca.1_Intron	1	1		benign(0.003)	p.H96R	NM_053282	NP_444512		tolerated(0.22)	1	SH21B_HUMAN	SH2D1B	HGNC	O14796	SH21B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)				3	409	-	all_hematologic(112;0.115)		UPI00000015D1	96			SH2.		SNV	SH2D1B,missense_variant,p.His96Arg,ENST00000367929,NM_053282.4;SH2D1B,intron_variant,,ENST00000359567,;SH2D1B,downstream_gene_variant,,ENST00000493550,;	uc001gbz.1	c.287A>G	397/2523	3	3			c.287A>G						1	SNP	c.(286-288)CAC>CGC	53	53			pancreas(1)	1	Broad	SH2 domain containing 1B			162368789		0.423	ENSG00000198574	14008	g.chr1:162368789T>C										100.047119	KEEP	16	20	-1	28	23	16	20	-1	100.726588	28	23	0.4	1	0	0	0	0	1	0	0	0	--	--		0	C			SH2D1B_uc001gca.1_Intron	96	GBM-06-5413-TP	p.H96R	T	CTTTAAAAGGTGAACCACCAT	NM_053282	NP_444512	162368789	O14796	SH21B_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.126)		3	409	-	C	C	all_hematologic(112;0.115)		Missense_Mutation	96			SH2.			
SH2D3A	10045	broad.mit.edu	GRCh37	19	6760704	6760704	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01	TCGA-06-2564-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245908.6:c.364C>T	p.Arg122Cys	p.R122C	ENST00000245908	NM_005490.2	122	Cgc/Tgc	0			1			A	R/C	uc002mft.2	protein_coding	YES	CCDS12173.1			364/1731									breast(2)	2	c.(364-366)CGC>TGC			hmmpanther:PTHR14247	SH2 domain containing 3A				ENSP00000245908		10-Mar	1.65E-05					3.14E-05			rs767313865,COSM2152961	10-Mar	.		ENST00000245908	Transcript			JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	ENSG00000125731	g.chr19:6760704G>A	16885			MODERATE		0.715	neutral	getma.org/?cm=msa&ty=f&p=SH23A_HUMAN&rb=96&re=295&var=R122C	NA	getma.org/?cm=var&var=hg19,19,6760704,G,A&fts=all	R122C	--	--	1																																		SH2D3A_uc010xjg.1_Intron	0,1	1		benign(0.035)	p.R122C	NM_005490	NP_005481		tolerated(0.1)	0,1	SH23A_HUMAN	SH2D3A	HGNC	Q9BRG2	SH23A_HUMAN					3	558	-			UPI000006FD60	122					SNV	SH2D3A,missense_variant,p.Arg122Cys,ENST00000245908,NM_005490.2;SH2D3A,missense_variant,p.Arg122Cys,ENST00000597687,;SH2D3A,intron_variant,,ENST00000437152,;SH2D3A,non_coding_transcript_exon_variant,,ENST00000599563,;SH2D3A,intron_variant,,ENST00000597254,;SH2D3A,non_coding_transcript_exon_variant,,ENST00000595369,;SH2D3A,non_coding_transcript_exon_variant,,ENST00000595681,;	uc002mft.2	c.364C>T	634/2296	2	2			c.364C>T						19	SNP	c.(364-366)CGC>TGC	43	43			breast(2)	2	Broad	SH2 domain containing 3A			6760704		0.612	ENSG00000125731	14010	g.chr19:6760704G>A	JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity							58.491253	KEEP	7	14	-1	14	18	7	14	-1	59.009738	14	18	0.392157	1	0	0	0	0	1	0	0	0	--	--		0	A			SH2D3A_uc010xjg.1_Intron	87	GBM-06-2564-TP	p.R122C	G	CTAAAGCTGCGTCGCAGAGGC	NM_005490	NP_005481	6760704	Q9BRG2	SH23A_HUMAN	0			3	558	-	A	A			Missense_Mutation	122						
SH2D3C	10044	broad.mit.edu	GRCh37	9	130502108	130502108	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-02-2470-01	TCGA-02-2470-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314830.8:c.2260del	p.Glu754SerfsTer175	p.E754Sfs*175	ENST00000314830	NM_170600.2	754	Gag/ag	0			1			-	E/X	uc004bsc.2	protein_coding	YES	CCDS6877.1			2260/2583									ovary(1)	1	c.(2260-2262)GAGfs			SMART_domains:SM00147,hmmpanther:PTHR14247:SF6,hmmpanther:PTHR14247,PROSITE_profiles:PS50009	SH2 domain containing 3C isoform a				ENSP00000317817		12-Nov										12-Nov	.		ENST00000314830	Transcript			JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	ENSG00000095370	g.chr9:130502108delC	16884			HIGH								--	--	1																																		SH2D3C_uc010mxo.2_Frame_Shift_Del_p.E594fs|SH2D3C_uc004bry.2_Frame_Shift_Del_p.E596fs|SH2D3C_uc004brz.3_Frame_Shift_Del_p.E400fs|SH2D3C_uc011mak.1_Frame_Shift_Del_p.E400fs|SH2D3C_uc004bsa.2_Frame_Shift_Del_p.E597fs|SH2D3C_uc004bsb.2_Frame_Shift_Del_p.E686fs		1			p.E754fs	NM_170600	NP_733745				SH2D3_HUMAN	SH2D3C	HGNC	Q8N5H7	SH2D3_HUMAN			B3KUE2_HUMAN		11	2402	-			UPI000006EC87	754			Ras-GEF.		deletion	SH2D3C,frameshift_variant,p.Glu754SerfsTer175,ENST00000314830,NM_170600.2;SH2D3C,frameshift_variant,p.Glu686SerfsTer175,ENST00000373276,NM_001252334.1;SH2D3C,frameshift_variant,p.Glu400SerfsTer175,ENST00000429553,NM_001142531.1,NM_001142532.1;SH2D3C,frameshift_variant,p.Glu597SerfsTer175,ENST00000373277,NM_005489.3;SH2D3C,frameshift_variant,p.Glu596SerfsTer175,ENST00000420366,NM_001142533.1;SH2D3C,frameshift_variant,p.Glu594SerfsTer175,ENST00000373274,NM_001142534.1;TOR2A,upstream_gene_variant,,ENST00000373281,NM_130459.3;TOR2A,upstream_gene_variant,,ENST00000458505,NM_001252021.1,NM_001252018.1,NM_001134431.2;TOR2A,upstream_gene_variant,,ENST00000373284,NM_001085347.2;TOR2A,upstream_gene_variant,,ENST00000336067,NM_001134430.2;TOR2A,upstream_gene_variant,,ENST00000472723,;TOR2A,upstream_gene_variant,,ENST00000463577,;SH2D3C,downstream_gene_variant,,ENST00000471939,;TOR2A,upstream_gene_variant,,ENST00000496460,;TOR2A,upstream_gene_variant,,ENST00000493439,;TOR2A,upstream_gene_variant,,ENST00000463256,;SH2D3C,downstream_gene_variant,,ENST00000468969,;SH2D3C,downstream_gene_variant,,ENST00000484160,;	uc004bsc.2	c.2260delG	2374/3124	5	5			c.2260delG						9	DEL	c.(2260-2262)GAGfs	57	57			ovary(1)	1	Broad	SH2 domain containing 3C isoform a			130502108		0.657	ENSG00000095370	14011	g.chr9:130502108delC	JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity																				0.38	1	1	0	1	0	0	0	0	0	--	--		0	-			SH2D3C_uc010mxo.2_Frame_Shift_Del_p.E594fs|SH2D3C_uc004bry.2_Frame_Shift_Del_p.E596fs|SH2D3C_uc004brz.3_Frame_Shift_Del_p.E400fs|SH2D3C_uc011mak.1_Frame_Shift_Del_p.E400fs|SH2D3C_uc004bsa.2_Frame_Shift_Del_p.E597fs|SH2D3C_uc004bsb.2_Frame_Shift_Del_p.E686fs	5	GBM-02-2470-TP	p.E754fs	C	GAGTCACACTCCAGCAGGGTG	NM_170600	NP_733745	130502108	Q8N5H7	SH2D3_HUMAN	0			11	2402	-	-	-			Frame_Shift_Del	754			Ras-GEF.			
SH2D3C	0	broad.mit.edu	GRCh37	9	130507361	130507361	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5133-01	TCGA-26-5133-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314830.8:c.1282G>A	p.Ala428Thr	p.A428T	ENST00000314830	NM_170600.2	428	Gcc/Acc	0			1			T	A/T	uc004bsc.2	protein_coding	YES	CCDS6877.1			1282/2583									ovary(1)	1	c.(1282-1284)GCC>ACC			Low_complexity_(Seg):seg,hmmpanther:PTHR14247:SF6,hmmpanther:PTHR14247	SH2 domain containing 3C isoform a				ENSP00000317817		12-Jul	8.78E-06	0.000117							rs763971193,COSM2156950,COSM2156949,COSM3413351	12-Jul	.		ENST00000314830	Transcript			JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	ENSG00000095370	g.chr9:130507361C>T	16884			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=SH2D3_HUMAN&rb=321&re=539&var=A428T	NA	getma.org/?cm=var&var=hg19,9,130507361,C,T&fts=all	A428T	--	--	1																																		SH2D3C_uc010mxo.2_Missense_Mutation_p.A268T|SH2D3C_uc004bry.2_Missense_Mutation_p.A270T|SH2D3C_uc004brz.3_Missense_Mutation_p.A74T|SH2D3C_uc011mak.1_Missense_Mutation_p.A74T|SH2D3C_uc004bsa.2_Missense_Mutation_p.A271T|SH2D3C_uc004bsb.2_Missense_Mutation_p.A360T	0,1,1,1	1		benign(0.001)	p.A428T	NM_170600	NP_733745		tolerated(0.64)	0,1,1,1	SH2D3_HUMAN	SH2D3C	HGNC	Q8N5H7	SH2D3_HUMAN			B3KUE2_HUMAN		7	1424	-			UPI000006EC87	428					SNV	SH2D3C,missense_variant,p.Ala428Thr,ENST00000314830,NM_170600.2;SH2D3C,missense_variant,p.Ala360Thr,ENST00000373276,NM_001252334.1;SH2D3C,missense_variant,p.Ala74Thr,ENST00000429553,NM_001142531.1,NM_001142532.1;SH2D3C,missense_variant,p.Ala271Thr,ENST00000373277,NM_005489.3;SH2D3C,missense_variant,p.Ala270Thr,ENST00000420366,NM_001142533.1;SH2D3C,missense_variant,p.Ala268Thr,ENST00000373274,NM_001142534.1;SH2D3C,missense_variant,p.Ala265Thr,ENST00000440630,;SH2D3C,downstream_gene_variant,,ENST00000414380,;SH2D3C,non_coding_transcript_exon_variant,,ENST00000471939,;SH2D3C,non_coding_transcript_exon_variant,,ENST00000464239,;SH2D3C,intron_variant,,ENST00000468969,;SH2D3C,downstream_gene_variant,,ENST00000488685,;SH2D3C,upstream_gene_variant,,ENST00000484160,;	uc004bsc.2	c.1282G>A	1396/3124	2	2			c.1282G>A						9	SNP	c.(1282-1284)GCC>ACC	22	22			ovary(1)	1	Broad	SH2 domain containing 3C isoform a			130507361		0.627	ENSG00000095370	14011	g.chr9:130507361C>T	JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity							64.747146	KEEP	10	12	-1	14	16	10	12	-1	64.955285	14	16	0.431373	1	0	0	0	0	1	0	0	0	--	--		0	T			SH2D3C_uc010mxo.2_Missense_Mutation_p.A268T|SH2D3C_uc004bry.2_Missense_Mutation_p.A270T|SH2D3C_uc004brz.3_Missense_Mutation_p.A74T|SH2D3C_uc011mak.1_Missense_Mutation_p.A74T|SH2D3C_uc004bsa.2_Missense_Mutation_p.A271T|SH2D3C_uc004bsb.2_Missense_Mutation_p.A360T	182	GBM-26-5133-TP	p.A428T	C	GCTGCAGGGGCGGCATGGACA	NM_170600	NP_733745	130507361	Q8N5H7	SH2D3_HUMAN	0			7	1424	-	T	T			Missense_Mutation	428						
SH2D3C	10044		GRCh37	9	130507103	130507103	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000314830.8:c.1540T>C	p.Ser514Pro	p.S514P	ENST00000314830	NM_170600.2	514	Tcc/Ccc	0																																																																																																																																																																																																																																												
SH2D4A	63898	broad.mit.edu	GRCh37	8	19177081	19177081	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-2567-01	TCGA-06-2567-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265807.3:c.23A>G	p.Glu8Gly	p.E8G	ENST00000265807	NM_022071.3	8	gAg/gGg	0			1			G	E/G	uc003wzb.2	protein_coding	YES	CCDS6009.1			23/1365										0	c.(22-24)GAG>GGG			hmmpanther:PTHR14388:SF5,hmmpanther:PTHR14388	SH2 domain containing 4A				ENSP00000265807		10-Feb									COSM2153044	10-Feb	.		ENST00000265807	Transcript				cytoplasm|nucleus	protein binding	ENSG00000104611	g.chr8:19177081A>G	26102			MODERATE		2.24	medium	getma.org/?cm=msa&ty=f&p=SH24A_HUMAN&rb=1&re=200&var=E8G	NA	getma.org/?cm=var&var=hg19,8,19177081,A,G&fts=all	E8G	--	--	1																																		SH2D4A_uc011kym.1_Intron|SH2D4A_uc003wzc.2_Missense_Mutation_p.E8G	1	1		benign(0.15)	p.E8G	NM_022071	NP_071354		deleterious(0)	1	SH24A_HUMAN	SH2D4A	HGNC	Q9H788	SH24A_HUMAN		Colorectal(111;0.0732)			2	359	+			UPI000007372B	8					SNV	SH2D4A,missense_variant,p.Glu8Gly,ENST00000265807,NM_022071.3,NM_001174160.1;SH2D4A,missense_variant,p.Glu8Gly,ENST00000519207,NM_001174159.1;SH2D4A,intron_variant,,ENST00000518040,;SH2D4A,upstream_gene_variant,,ENST00000523736,;	uc003wzb.2	c.23A>G	434/3352	3	3			c.23A>G						8	SNP	c.(22-24)GAG>GGG	53	53				0	Broad	SH2 domain containing 4A			19177081		0.463	ENSG00000104611	14012	g.chr8:19177081A>G		cytoplasm|nucleus	protein binding							98.084406	KEEP	13	21	-1	25	32	13	21	-1	99.447874	25	32	0.358974	1	0	0	0	0	1	0	0	0	--	--		0	G			SH2D4A_uc011kym.1_Intron|SH2D4A_uc003wzc.2_Missense_Mutation_p.E8G	89	GBM-06-2567-TP	p.E8G	A	ATACTGTCGGAGATGTACATA	NM_022071	NP_071354	19177081	Q9H788	SH24A_HUMAN	0		Colorectal(111;0.0732)	2	359	+	G	G			Missense_Mutation	8						
SH2D4A	0	broad.mit.edu	GRCh37	8	19190497	19190497	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-16-1045-01	TCGA-16-1045-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265807.3:c.213A>G	p.Gly71=	p.G71=	ENST00000265807	NM_022071.3	71	ggA/ggG	0			1			G	G	uc003wzb.2	protein_coding	YES	CCDS6009.1			213/1365										0	c.(211-213)GGA>GGG			hmmpanther:PTHR14388:SF5,hmmpanther:PTHR14388	SH2 domain containing 4A				ENSP00000265807		10-Mar									COSM3412907	10-Mar	.		ENST00000265807	Transcript				cytoplasm|nucleus	protein binding	ENSG00000104611	g.chr8:19190497A>G	26102			LOW								--	--	1																																		SH2D4A_uc011kym.1_Silent_p.G26G|SH2D4A_uc003wzc.2_Silent_p.G71G	1	1			p.G71G	NM_022071	NP_071354			1	SH24A_HUMAN	SH2D4A	HGNC	Q9H788	SH24A_HUMAN		Colorectal(111;0.0732)			3	549	+			UPI000007372B	71					SNV	SH2D4A,synonymous_variant,p.=,ENST00000265807,NM_022071.3,NM_001174160.1;SH2D4A,synonymous_variant,p.=,ENST00000519207,NM_001174159.1;SH2D4A,synonymous_variant,p.=,ENST00000518040,;SH2D4A,synonymous_variant,p.=,ENST00000523736,;	uc003wzb.2	c.213A>G	624/3352	3	3			c.213A>G						8	SNP	c.(211-213)GGA>GGG	64	64				0	Broad	SH2 domain containing 4A			19190497		0.408	ENSG00000104611	14012	g.chr8:19190497A>G		cytoplasm|nucleus	protein binding							-56.441745	KEEP	2	4	-1	134	145	2	4	-1	6.4898	134	145	0.020747	1	0	0	0	0	0	0	1	0	--	--		0	G			SH2D4A_uc011kym.1_Silent_p.G26G|SH2D4A_uc003wzc.2_Silent_p.G71G	157	GBM-16-1045-TP	p.G71G	A	GGAAACTTGGAGCTGATAAGG	NM_022071	NP_071354	19190497	Q9H788	SH24A_HUMAN	0		Colorectal(111;0.0732)	3	549	+	G	G			Silent	71						
SH2D4B	0	broad.mit.edu	GRCh37	10	82330026	82330026	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-14-1450-01	TCGA-14-1450-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339284.2:c.301G>T	p.Ala101Ser	p.A101S	ENST00000339284	NM_207372.2	101	Gca/Tca	0			1			T	A/S	uc001kck.1	protein_coding	YES	CCDS7370.1			301/1074										0	c.(301-303)GCA>TCA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14388,hmmpanther:PTHR14388:SF7,Low_complexity_(Seg):seg	SH2 domain containing 4B isoform 1				ENSP00000345295		7-Feb	8.24E-06							6.06E-05	rs757811175,COSM3397268,COSM3397269	7-Feb	.		ENST00000339284	Transcript						ENSG00000178217	g.chr10:82330026G>T	31440			MODERATE		2.25	medium	getma.org/?cm=msa&ty=f&p=SH24B_HUMAN&rb=1&re=200&var=A100S	NA	getma.org/?cm=var&var=hg19,10,82330026,G,T&fts=all	A100S	--	--	1																																		SH2D4B_uc001kcl.1_Missense_Mutation_p.A52S	0,1,1	1		benign(0.159)	p.A101S	NM_207372	NP_997255		deleterious(0.01)	0,1,1	SH24B_HUMAN	SH2D4B	HGNC	Q5SQS7	SH24B_HUMAN	Colorectal(32;0.229)				2	731	+			UPI00002289C3	100			Glu-rich.		SNV	SH2D4B,missense_variant,p.Ala101Ser,ENST00000339284,NM_207372.2;SH2D4B,missense_variant,p.Ala100Ser,ENST00000470604,;SH2D4B,missense_variant,p.Ala52Ser,ENST00000313455,NM_001145719.1;	uc001kck.1	c.301G>T	731/3983	2	2			c.301G>T						10	SNP	c.(301-303)GCA>TCA	35	35				0	Broad	SH2 domain containing 4B isoform 1			82330026		0.602	ENSG00000178217	14013	g.chr10:82330026G>T										114.446615	KEEP	19	25	0.431818182	22	16	19	25	0.431818182	114.473117	22	16	0.520548	1	0	0	0	0	1	0	0	0	--	--		0	T			SH2D4B_uc001kcl.1_Missense_Mutation_p.A52S	145	GBM-14-1450-TP	p.A101S	G	GGAGCTGATTGCAGAGAGGGC	NM_207372	NP_997255	82330026	Q5SQS7	SH24B_HUMAN	0	Colorectal(32;0.229)		2	731	+	T	T			Missense_Mutation	100			Glu-rich.			
SH3BGR	6450		GRCh37	21	40883645	40883645	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000333634.4:c.663C>T	p.Ala221=	p.A221=	ENST00000333634	NM_007341.2	221	gcC/gcT	0																																																																																																																																																																																																																																												
SH3BP1	0	broad.mit.edu	GRCh37	22	38046222	38046222	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-16-0846-01	TCGA-16-0846-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357436.4:c.1380G>A	p.Ala460=	p.A460=	ENST00000357436	NM_018957.3	460	gcG/gcA	0			1			A	A	uc003ati.2	protein_coding	YES	CCDS13952.2			1380/2106									central_nervous_system(1)	1	c.(1378-1380)GCG>GCA			PROSITE_profiles:PS50238,hmmpanther:PTHR14130:SF12,hmmpanther:PTHR14130,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350	SH3-domain binding protein 1				ENSP00000350018		15/18	6.59E-05		0.000331	0.000281	0.000408	1.81E-05			rs746933688,COSM126145	15/18	common_variant		ENST00000357436	Transcript			signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	ENSG00000100092	g.chr22:38046222G>A	10824			LOW								--	--	1																																		SH3BP1_uc003atg.1_RNA|SH3BP1_uc011anl.1_Missense_Mutation_p.R493H|SH3BP1_uc003ath.1_Silent_p.A460A|SH3BP1_uc003atj.1_Silent_p.A396A|SH3BP1_uc003atk.1_Silent_p.A374A|uc003atl.1_Intron	0,1	1			p.A460A	NM_018957	NP_061830			0,1	3BP1_HUMAN	SH3BP1	HGNC	Q9Y3L3	3BP1_HUMAN			F8WEQ3_HUMAN		15	1491	+	Melanoma(58;0.0574)		UPI000004EE00	460			Rho-GAP.		SNV	SH3BP1,missense_variant,p.Arg493His,ENST00000442465,;SH3BP1,synonymous_variant,p.=,ENST00000599616,;SH3BP1,synonymous_variant,p.=,ENST00000357436,NM_018957.3;SH3BP1,downstream_gene_variant,,ENST00000336738,;Z83844.1,intron_variant,,ENST00000456099,;SH3BP1,downstream_gene_variant,,ENST00000495174,;SH3BP1,3_prime_UTR_variant,,ENST00000451997,;SH3BP1,3_prime_UTR_variant,,ENST00000417536,;SH3BP1,non_coding_transcript_exon_variant,,ENST00000469947,;SH3BP1,non_coding_transcript_exon_variant,,ENST00000466097,;SH3BP1,downstream_gene_variant,,ENST00000471650,;	uc003ati.2	c.1380G>A	1693/2852	2	2			c.1380G>A						22	SNP	c.(1378-1380)GCG>GCA	30	30			central_nervous_system(1)	1	Broad	SH3-domain binding protein 1			38046222		0.577	ENSG00000100092	14021	g.chr22:38046222G>A	signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding							47.934456	KEEP	10	11	-1	15	21	10	11	-1	48.90712	15	21	0.352941	1	0	0	0	0	0	0	1	0	--	--		0	A			SH3BP1_uc003atg.1_RNA|SH3BP1_uc011anl.1_Missense_Mutation_p.R493H|SH3BP1_uc003ath.1_Silent_p.A460A|SH3BP1_uc003atj.1_Silent_p.A396A|SH3BP1_uc003atk.1_Silent_p.A374A|uc003atl.1_Intron	155	GBM-16-0846-TP	p.A460A	G	TCGTCGAGGCGCTGATCCAGA	NM_018957	NP_061830	38046222	Q9Y3L3	3BP1_HUMAN	0			15	1491	+	A	A	Melanoma(58;0.0574)		Silent	460			Rho-GAP.			
SH3BP4	0	broad.mit.edu	GRCh37	2	235950763	235950763	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-1833-01	TCGA-27-1833-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344528.4:c.1350C>T	p.Tyr450=	p.Y450=	ENST00000344528		450	taC/taT	0	T:0	T:0	1	T:0		T	Y	uc002vvp.2	protein_coding		CCDS2513.1			1350/2892									skin(3)|ovary(1)	4	c.(1348-1350)TAC>TAT			hmmpanther:PTHR15603:SF3,hmmpanther:PTHR15603	SH3-domain binding protein 4		T:0.001	T:0.0005	ENSP00000340237	T:0	6-Apr	9.06E-05			0.000464		0.000105			rs201095699,COSM1018221	6-Apr	common_variant		ENST00000344528	Transcript		T:0.0002	endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	ENSG00000130147	g.chr2:235950763C>T	10826			LOW								--	--	1																																		SH3BP4_uc010fym.2_Silent_p.Y450Y|SH3BP4_uc002vvq.2_Silent_p.Y450Y	0,1				p.Y450Y	NM_014521	NP_055336	T:0		0,1	SH3B4_HUMAN	SH3BP4	HGNC	Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	C9JWW6_HUMAN,C9JRG1_HUMAN,C9JF25_HUMAN,C9JED2_HUMAN,B4E2S1_HUMAN		4	1743	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	UPI000006DA47	450					SNV	SH3BP4,synonymous_variant,p.=,ENST00000409212,;SH3BP4,synonymous_variant,p.=,ENST00000392011,NM_014521.2;SH3BP4,synonymous_variant,p.=,ENST00000344528,;SH3BP4,downstream_gene_variant,,ENST00000446904,;SH3BP4,downstream_gene_variant,,ENST00000416021,;SH3BP4,downstream_gene_variant,,ENST00000444916,;SH3BP4,downstream_gene_variant,,ENST00000454947,;	uc002vvp.2	c.1350C>T	1670/5044	2	2			c.1350C>T						2	SNP	c.(1348-1350)TAC>TAT	17	17			skin(3)|ovary(1)	4	Broad	SH3-domain binding protein 4			235950763		0.577	ENSG00000130147	14023	g.chr2:235950763C>T	endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding							80.546195	KEEP	19	16	-1	26	31	19	16	-1	81.775975	26	31	0.367089	1	0	0	0	0	0	0	1	0	--	--		0	T			SH3BP4_uc010fym.2_Silent_p.Y450Y|SH3BP4_uc002vvq.2_Silent_p.Y450Y	192	GBM-27-1833-TP	p.Y450Y	C	CCTGTATGTACGTGGCTGTCG	NM_014521	NP_055336	235950763	Q9P0V3	SH3B4_HUMAN	0		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	1743	+	T	T		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	Silent	450						
SH3D19	152503	broad.mit.edu	GRCh37	4	152096196	152096196	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0241-01	TCGA-06-0241-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304527.4:c.320C>G	p.Pro107Arg	p.P107R	ENST00000304527	NM_001009555.3	107	cCa/cGa	0			1			C	P/R	uc010ipl.1	protein_coding	YES	CCDS34077.2			320/2373									ovary(1)|skin(1)	2	c.(319-321)CCA>CGA			hmmpanther:PTHR10661,hmmpanther:PTHR10661:SF127	SH3 domain containing 19 isoform a				ENSP00000302913		21-Jul									COSM2151149	21-Jul	.		ENST00000304527	Transcript			cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding	ENSG00000109686	g.chr4:152096196G>C	30418			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=SH319_HUMAN&rb=1&re=200&var=P107R	NA	getma.org/?cm=var&var=hg19,4,152096196,G,C&fts=all	P107R	--	--	1																																		SH3D19_uc003imc.2_Missense_Mutation_p.P107R|SH3D19_uc003ime.2_Missense_Mutation_p.P107R|SH3D19_uc010ipm.2_Missense_Mutation_p.P107R	1	1		probably_damaging(0.996)	p.P107R	NM_001009555	NP_001009555		deleterious(0)	1	SH319_HUMAN	SH3D19	HGNC	Q5HYK7	SH319_HUMAN					7	1410	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	UPI0000251D9A	107			Pro-rich.		SNV	SH3D19,missense_variant,p.Pro107Arg,ENST00000409598,;SH3D19,missense_variant,p.Pro107Arg,ENST00000304527,NM_001009555.3;SH3D19,missense_variant,p.Pro107Arg,ENST00000455740,NM_001128923.1;SH3D19,missense_variant,p.Pro107Arg,ENST00000514152,NM_001243349.1;SH3D19,missense_variant,p.Pro107Arg,ENST00000424281,;SH3D19,missense_variant,p.Pro107Arg,ENST00000409252,;SH3D19,missense_variant,p.Pro107Arg,ENST00000427414,NM_001128924.1;SH3D19,non_coding_transcript_exon_variant,,ENST00000462257,;SH3D19,downstream_gene_variant,,ENST00000604030,;SH3D19,downstream_gene_variant,,ENST00000474743,;SH3D19,downstream_gene_variant,,ENST00000514013,;SH3D19,downstream_gene_variant,,ENST00000604440,;	uc010ipl.1	c.320C>G	1410/5273	3	3			c.320C>G						4	SNP	c.(319-321)CCA>CGA	49	49			ovary(1)|skin(1)	2	Broad	SH3 domain containing 19 isoform a			152096196		0.537	ENSG00000109686	14026	g.chr4:152096196G>C	cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding							312.953258	KEEP	48	62	-1	67	73	48	62	-1	313.690674	67	73	0.439462	1	0	0	0	0	1	0	0	0	--	--		0	C			SH3D19_uc003imc.2_Missense_Mutation_p.P107R|SH3D19_uc003ime.2_Missense_Mutation_p.P107R|SH3D19_uc010ipm.2_Missense_Mutation_p.P107R	57	GBM-06-0241-TP	p.P107R	G	GCCAGGGTTTGGTTTCTTTGG	NM_001009555	NP_001009555	152096196	Q5HYK7	SH319_HUMAN	0			7	1410	-	C	C	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	Missense_Mutation	107			Pro-rich.			
SH3GL2	6456	broad.mit.edu	GRCh37	9	17791242	17791242	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6390-01	TCGA-06-6390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380607.4:c.638G>A	p.Ser213Asn	p.S213N	ENST00000380607	NM_003026.2	213	aGc/aAc	0			1			A	S/N	uc003zna.2	protein_coding	YES	CCDS6483.1			638/1059									skin(1)	1	c.(637-639)AGC>AAC			PROSITE_profiles:PS51021,hmmpanther:PTHR10661:SF113,hmmpanther:PTHR10661,Gene3D:1.20.1270.60,Pfam_domain:PF03114,SMART_domains:SM00721,Superfamily_domains:SSF103657	SH3-domain GRB2-like 2				ENSP00000369981		9-Jul									COSM2153458	9-Jul	.		ENST00000380607	Transcript			axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding	ENSG00000107295	g.chr9:17791242G>A	10831			MODERATE		2.695	medium	getma.org/?cm=msa&ty=f&p=SH3G2_HUMAN&rb=6&re=242&var=S213N	getma.org/pdb.php?prot=SH3G2_HUMAN&from=6&to=242&var=S213N	getma.org/?cm=var&var=hg19,9,17791242,G,A&fts=all	S213N	--	--	1																																		SH3GL2_uc011lmy.1_Missense_Mutation_p.S166N	1	1		benign(0.01)	p.S213N	NM_003026	NP_003017		tolerated(0.06)	1	SH3G2_HUMAN	SH3GL2	HGNC	Q99962	SH3G2_HUMAN		GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)	Q7Z376_HUMAN,Q3V639_HUMAN,F5H5J3_HUMAN,D3DRJ2_HUMAN		7	926	+			UPI0000135933	213			BAR.|Potential.		SNV	SH3GL2,missense_variant,p.Ser213Asn,ENST00000380607,NM_003026.2;SH3GL2,missense_variant,p.Ser166Asn,ENST00000537391,;	uc003zna.2	c.638G>A	758/2565	1	1			c.638G>A						9	SNP	c.(637-639)AGC>AAC	64	64			skin(1)	1	Broad	SH3-domain GRB2-like 2			17791242		0.478	ENSG00000107295	14028	g.chr9:17791242G>A	axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding							108.001188	KEEP	19	18	-1	42	50	19	18	-1	112.061353	42	50	0.301724	1	0	0	0	0	1	0	0	0	--	--		0	A			SH3GL2_uc011lmy.1_Missense_Mutation_p.S166N	106	GBM-06-6390-TP	p.S213N	G	GAACAAGTGAGCCAGCTCTCT	NM_003026	NP_003017	17791242	Q99962	SH3G2_HUMAN	0		GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)	7	926	+	A	A			Missense_Mutation	213			BAR.|Potential.			
SH3GL3	0	broad.mit.edu	GRCh37	15	84245409	84245409	+	synonymous_variant	Silent	SNP	C	C	T	rs138675150	byFrequency	TCGA-14-0813-01	TCGA-14-0813-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000427482.2:c.540C>T	p.Asp180=	p.D180=	ENST00000427482	NM_003027.3	180	gaC/gaT	0	T:0.0014	T:0.0008	1	T:0		T	D	uc002bjw.2	protein_coding	YES	CCDS10325.2			540/1044									pancreas(1)|central_nervous_system(1)|skin(1)	3	c.(538-540)GAC>GAT			PROSITE_profiles:PS51021,hmmpanther:PTHR10661:SF120,hmmpanther:PTHR10661,Pfam_domain:PF03114,Gene3D:1.20.1270.60,SMART_domains:SM00721,Superfamily_domains:SSF103657	SH3-domain GRB2-like 3		T:0	T:0	ENSP00000391372	T:0.001	9-Jun	9.06E-05	0.000876				3.01E-05			rs138675150,COSM2154684,COSM2154685	9-Jun	common_variant		ENST00000427482	Transcript		T:0.0004	central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	ENSG00000140600	g.chr15:84245409C>T	10832			LOW								--	--	1																																		SH3GL3_uc010uot.1_Silent_p.D180D|SH3GL3_uc002bjx.2_Silent_p.D111D|SH3GL3_uc002bju.2_Silent_p.D188D|SH3GL3_uc002bjv.2_RNA	0,1,1	1			p.D180D	NM_003027	NP_003018	T:0		0,1,1	SH3G3_HUMAN	SH3GL3	HGNC	Q99963	SH3G3_HUMAN			Q9UMB8_HUMAN		6	735	+			UPI0000135935	180			BAR.		SNV	SH3GL3,synonymous_variant,p.=,ENST00000324537,;SH3GL3,synonymous_variant,p.=,ENST00000427482,NM_003027.3;SH3GL3,synonymous_variant,p.=,ENST00000535412,;SH3GL3,synonymous_variant,p.=,ENST00000434347,;SH3GL3,3_prime_UTR_variant,,ENST00000563901,;	uc002bjw.2	c.540C>T	846/1806	2	2			c.540C>T						15	SNP	c.(538-540)GAC>GAT	18	18			pancreas(1)|central_nervous_system(1)|skin(1)	3	Broad	SH3-domain GRB2-like 3			84245409		0.383	ENSG00000140600	14029	g.chr15:84245409C>T	central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding							39.199788	KEEP	5	11	-1	34	13	5	11	-1	41.761041	34	13	0.272727	1	0	0	0	0	0	0	1	0	--	--		0	T			SH3GL3_uc010uot.1_Silent_p.D180D|SH3GL3_uc002bjx.2_Silent_p.D111D|SH3GL3_uc002bju.2_Silent_p.D188D|SH3GL3_uc002bjv.2_RNA	138	GBM-14-0813-TP	p.D180D	C	AGATACCAGACGAAGAAGTCA	NM_003027	NP_003018	84245409	Q99963	SH3G3_HUMAN	0			6	735	+	T	T			Silent	180			BAR.			
SH3RF1	0	broad.mit.edu	GRCh37	4	170190261	170190261	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-12-5299-01	TCGA-12-5299-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284637.9:c.103C>G	p.Arg35Gly	p.R35G	ENST00000284637	NM_020870.3	35	Cga/Gga	0			1			C	R/G	uc003isa.1	protein_coding	YES	CCDS34099.1			103/2667									breast(2)|lung(1)	3	c.(103-105)CGA>GGA			PROSITE_profiles:PS50089,hmmpanther:PTHR10661:SF8,hmmpanther:PTHR10661,PROSITE_patterns:PS00518,Pfam_domain:PF00097,Gene3D:3.30.40.10,SMART_domains:SM00184,Superfamily_domains:SSF57850	SH3 domain containing ring finger 1				ENSP00000284637		12-Feb									COSM3409164	12-Feb	.		ENST00000284637	Transcript				Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	ENSG00000154447	g.chr4:170190261G>C	17650			MODERATE		0.74	neutral	getma.org/?cm=msa&ty=f&p=SH3R1_HUMAN&rb=8&re=54&var=R35G	getma.org/pdb.php?prot=SH3R1_HUMAN&from=8&to=54&var=R35G	getma.org/?cm=var&var=hg19,4,170190261,G,C&fts=all	R35G	--	--	1																																			1	1		probably_damaging(0.999)	p.R35G	NM_020870	NP_065921		deleterious(0)	1	SH3R1_HUMAN	SH3RF1	HGNC	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	D6RHX5_HUMAN,D6RAL3_HUMAN		2	438	-		Prostate(90;0.00267)|Renal(120;0.0183)	UPI0000160033	35			RING-type.		SNV	SH3RF1,missense_variant,p.Arg35Gly,ENST00000284637,NM_020870.3;SH3RF1,missense_variant,p.Arg35Gly,ENST00000510806,;SH3RF1,missense_variant,p.Arg35Gly,ENST00000502315,;SH3RF1,upstream_gene_variant,,ENST00000508685,;	uc003isa.1	c.103C>G	445/5272	4	4			c.103C>G						4	SNP	c.(103-105)CGA>GGA	33	33			breast(2)|lung(1)	3	Broad	SH3 domain containing ring finger 1			170190261		0.517	ENSG00000154447	14035	g.chr4:170190261G>C		Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding							-14.554726	KEEP	0	3	-1	49	49	0	3	-1	7.677159	49	49	0.032258	1	0	0	0	0	1	0	0	0	--	--		0	C				130	GBM-12-5299-TP	p.R35G	G	AGCAAACATCGCTTGCAAAAC	NM_020870	NP_065921	170190261	Q7Z6J0	SH3R1_HUMAN	0		GBM - Glioblastoma multiforme(119;0.0287)	2	438	-	C	C		Prostate(90;0.00267)|Renal(120;0.0183)	Missense_Mutation	35			RING-type.			
SH3RF2	0	broad.mit.edu	GRCh37	5	145393517	145393517	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0618-01	TCGA-12-0618-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359120.4:c.952C>T	p.Arg318Cys	p.R318C	ENST00000359120	NM_152550.3	318	Cgc/Tgc	0		T:0	1	T:0		T	R/C	uc003lnt.2	protein_coding		CCDS4280.1			952/2190									ovary(1)|skin(1)	2	c.(952-954)CGC>TGC			hmmpanther:PTHR10661:SF6,hmmpanther:PTHR10661	SH3 domain containing ring finger 2		T:0		ENSP00000352028	T:0	10-May	0.000387			0.000116		1.50E-05	0.0011	0.00267	rs563187260,COSM221232	10-May	common_variant		ENST00000359120	Transcript		T:0.0020			ligase activity|protein phosphatase 1 binding|zinc ion binding	ENSG00000156463	g.chr5:145393517C>T	26299			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=SH3R2_HUMAN&rb=303&re=334&var=R318C	NA	getma.org/?cm=var&var=hg19,5,145393517,C,T&fts=all	R318C	--	--	1																																		SH3RF2_uc011dbl.1_Missense_Mutation_p.R318C	0,1			possibly_damaging(0.893)	p.R318C	NM_152550	NP_689763	T:0.0102	deleterious(0)	0,1	SH3R2_HUMAN	SH3RF2	HGNC	Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)				5	1190	+			UPI0000457366	318					SNV	SH3RF2,missense_variant,p.Arg318Cys,ENST00000511217,;SH3RF2,missense_variant,p.Arg318Cys,ENST00000359120,NM_152550.3;	uc003lnt.2	c.952C>T	1174/3027	2	2			c.952C>T						5	SNP	c.(952-954)CGC>TGC	25	25			ovary(1)|skin(1)	2	Broad	SH3 domain containing ring finger 2			145393517		0.577	ENSG00000156463	14036	g.chr5:145393517C>T			ligase activity|protein phosphatase 1 binding|zinc ion binding							475.347686	KEEP	82	95	-1	101	111	82	95	-1	475.887619	101	111	0.458333	1	0	0	0	0	1	0	0	0	--	--		0	T			SH3RF2_uc011dbl.1_Missense_Mutation_p.R318C	119	GBM-12-0618-TP	p.R318C	C	TCCTTCAGGGCGCCATATGGT	NM_152550	NP_689763	145393517	Q8TEC5	SH3R2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	1190	+	T	T			Missense_Mutation	318						
SH3RF2	0	broad.mit.edu	GRCh37	5	145435652	145435652	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-4068-01	TCGA-19-4068-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359120.4:c.1431G>A	p.Arg477=	p.R477=	ENST00000359120	NM_152550.3	477	cgG/cgA	0			1			A	R	uc003lnt.2	protein_coding		CCDS4280.1			1431/2190									ovary(1)|skin(1)	2	c.(1429-1431)CGG>CGA				SH3 domain containing ring finger 2				ENSP00000352028		10-Aug									COSM3409968	10-Aug	.		ENST00000359120	Transcript					ligase activity|protein phosphatase 1 binding|zinc ion binding	ENSG00000156463	g.chr5:145435652G>A	26299			LOW								--	--	1																																		SH3RF2_uc011dbl.1_Silent_p.R477R|SH3RF2_uc011dbm.1_5'UTR|SH3RF2_uc003lnu.2_5'UTR|SH3RF2_uc011dbn.1_5'UTR	1				p.R477R	NM_152550	NP_689763			1	SH3R2_HUMAN	SH3RF2	HGNC	Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)				8	1669	+			UPI0000457366	477					SNV	SH3RF2,synonymous_variant,p.=,ENST00000511217,;SH3RF2,synonymous_variant,p.=,ENST00000359120,NM_152550.3;SH3RF2,non_coding_transcript_exon_variant,,ENST00000511705,;SH3RF2,non_coding_transcript_exon_variant,,ENST00000503848,;SH3RF2,non_coding_transcript_exon_variant,,ENST00000504522,;	uc003lnt.2	c.1431G>A	1653/3027	2	2			c.1431G>A						5	SNP	c.(1429-1431)CGG>CGA	28	28			ovary(1)|skin(1)	2	Broad	SH3 domain containing ring finger 2			145435652		0.562	ENSG00000156463	14036	g.chr5:145435652G>A			ligase activity|protein phosphatase 1 binding|zinc ion binding							-100.414958	KEEP	0	6	-1	179	234	0	6	-1	8.524522	179	234	0.014742	1	0	0	0	0	0	0	1	0	--	--		0	A			SH3RF2_uc011dbl.1_Silent_p.R477R|SH3RF2_uc011dbm.1_5'UTR|SH3RF2_uc003lnu.2_5'UTR|SH3RF2_uc011dbn.1_5'UTR	168	GBM-19-4068-TP	p.R477R	G	GTGATCCACGGCAAAGCCGTC	NM_152550	NP_689763	145435652	Q8TEC5	SH3R2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	1669	+	A	A			Silent	477						
SH3RF2	0	broad.mit.edu	GRCh37	5	145439569	145439569	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5947-01	TCGA-19-5947-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359120.4:c.1696G>A	p.Val566Met	p.V566M	ENST00000359120	NM_152550.3	566	Gtg/Atg	0			1			A	V/M	uc003lnt.2	protein_coding		CCDS4280.1			1696/2190									ovary(1)|skin(1)	2	c.(1696-1698)GTG>ATG				SH3 domain containing ring finger 2				ENSP00000352028		10-Sep	1.65E-05	9.69E-05						7.79E-05	rs753470880,COSM1434871	10-Sep	.		ENST00000359120	Transcript					ligase activity|protein phosphatase 1 binding|zinc ion binding	ENSG00000156463	g.chr5:145439569G>A	26299			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=SH3R2_HUMAN&rb=444&re=663&var=V566M	NA	getma.org/?cm=var&var=hg19,5,145439569,G,A&fts=all	V566M	--	--	1																																		SH3RF2_uc011dbl.1_Missense_Mutation_p.V566M|SH3RF2_uc011dbm.1_Missense_Mutation_p.V51M|SH3RF2_uc003lnu.2_Missense_Mutation_p.V57M|SH3RF2_uc011dbn.1_Missense_Mutation_p.V57M|SH3RF2_uc011dbo.1_Missense_Mutation_p.V23M	0,1			benign(0.009)	p.V566M	NM_152550	NP_689763		tolerated(0.25)	0,1	SH3R2_HUMAN	SH3RF2	HGNC	Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)				9	1934	+			UPI0000457366	566					SNV	SH3RF2,missense_variant,p.Val566Met,ENST00000511217,;SH3RF2,missense_variant,p.Val566Met,ENST00000359120,NM_152550.3;SH3RF2,non_coding_transcript_exon_variant,,ENST00000511705,;SH3RF2,intron_variant,,ENST00000503848,;SH3RF2,non_coding_transcript_exon_variant,,ENST00000504522,;	uc003lnt.2	c.1696G>A	1918/3027	2	2			c.1696G>A						5	SNP	c.(1696-1698)GTG>ATG	26	26			ovary(1)|skin(1)	2	Broad	SH3 domain containing ring finger 2			145439569		0.672	ENSG00000156463	14036	g.chr5:145439569G>A			ligase activity|protein phosphatase 1 binding|zinc ion binding							110.526773	KEEP	19	23	-1	33	44	19	23	-1	112.080441	33	44	0.368932	1	0	0	0	0	1	0	0	0	--	--		0	A			SH3RF2_uc011dbl.1_Missense_Mutation_p.V566M|SH3RF2_uc011dbm.1_Missense_Mutation_p.V51M|SH3RF2_uc003lnu.2_Missense_Mutation_p.V57M|SH3RF2_uc011dbn.1_Missense_Mutation_p.V57M|SH3RF2_uc011dbo.1_Missense_Mutation_p.V23M	169	GBM-19-5947-TP	p.V566M	G	CCCCTCAGCCGTGGTGGTGGA	NM_152550	NP_689763	145439569	Q8TEC5	SH3R2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1934	+	A	A			Missense_Mutation	566						
SH3RF2	0	broad.mit.edu	GRCh37	5	145393533	145393533	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-27-1838-01	TCGA-27-1838-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359120.4:c.968T>G	p.Ile323Ser	p.I323S	ENST00000359120	NM_152550.3	323	aTc/aGc	0			1			G	I/S	uc003lnt.2	protein_coding		CCDS4280.1			968/2190									ovary(1)|skin(1)	2	c.(967-969)ATC>AGC			hmmpanther:PTHR10661:SF6,hmmpanther:PTHR10661	SH3 domain containing ring finger 2				ENSP00000352028		10-May									COSM3409965	10-May	.		ENST00000359120	Transcript					ligase activity|protein phosphatase 1 binding|zinc ion binding	ENSG00000156463	g.chr5:145393533T>G	26299			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=SH3R2_HUMAN&rb=303&re=334&var=I323S	NA	getma.org/?cm=var&var=hg19,5,145393533,T,G&fts=all	I323S	--	--	1																																		SH3RF2_uc011dbl.1_Missense_Mutation_p.I323S	1			probably_damaging(0.999)	p.I323S	NM_152550	NP_689763		deleterious(0)	1	SH3R2_HUMAN	SH3RF2	HGNC	Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)				5	1206	+			UPI0000457366	323					SNV	SH3RF2,missense_variant,p.Ile323Ser,ENST00000511217,;SH3RF2,missense_variant,p.Ile323Ser,ENST00000359120,NM_152550.3;	uc003lnt.2	c.968T>G	1190/3027	3	3			c.968T>G						5	SNP	c.(967-969)ATC>AGC	13	13			ovary(1)|skin(1)	2	Broad	SH3 domain containing ring finger 2			145393533		0.567	ENSG00000156463	14036	g.chr5:145393533T>G			ligase activity|protein phosphatase 1 binding|zinc ion binding							416.481331	KEEP	60	77	-1	93	115	60	77	-1	419.056012	93	115	0.403175	1	0	0	0	0	1	0	0	0	--	--		0	G			SH3RF2_uc011dbl.1_Missense_Mutation_p.I323S	197	GBM-27-1838-TP	p.I323S	T	ATGGTAGAGATCAGCACCCCA	NM_152550	NP_689763	145393533	Q8TEC5	SH3R2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	1206	+	G	G			Missense_Mutation	323						
SH3RF2	0	broad.mit.edu	GRCh37	5	145393623	145393623	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T			TCGA-32-1991-01	TCGA-32-1991-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359120.4:c.1058A>T	p.Gln353Leu	p.Q353L	ENST00000359120	NM_152550.3	353	cAg/cTg	0			1			T	Q/L	uc003lnt.2	protein_coding		CCDS4280.1			1058/2190									ovary(1)|skin(1)	2	c.(1057-1059)CAG>CTG			hmmpanther:PTHR10661:SF6,hmmpanther:PTHR10661	SH3 domain containing ring finger 2				ENSP00000352028		10-May									COSM3409966	10-May	.		ENST00000359120	Transcript					ligase activity|protein phosphatase 1 binding|zinc ion binding	ENSG00000156463	g.chr5:145393623A>T	26299			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=SH3R2_HUMAN&rb=335&re=385&var=Q353L	NA	getma.org/?cm=var&var=hg19,5,145393623,A,T&fts=all	Q353L	--	--	1																																		SH3RF2_uc011dbl.1_Missense_Mutation_p.Q353L	1			probably_damaging(0.971)	p.Q353L	NM_152550	NP_689763		deleterious(0.02)	1	SH3R2_HUMAN	SH3RF2	HGNC	Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)				5	1296	+			UPI0000457366	353					SNV	SH3RF2,missense_variant,p.Gln353Leu,ENST00000511217,;SH3RF2,missense_variant,p.Gln353Leu,ENST00000359120,NM_152550.3;	uc003lnt.2	c.1058A>T	1280/3027	2	2			c.1058A>T						5	SNP	c.(1057-1059)CAG>CTG	17	17			ovary(1)|skin(1)	2	Broad	SH3 domain containing ring finger 2			145393623		0.512	ENSG00000156463	14036	g.chr5:145393623A>T			ligase activity|protein phosphatase 1 binding|zinc ion binding							-43.66805	KEEP	0	4	-1	94	121	0	4	-1	7.84625	94	121	0.020101	1	0	0	0	0	1	0	0	0	--	--		0	T			SH3RF2_uc011dbl.1_Missense_Mutation_p.Q353L	234	GBM-32-1991-TP	p.Q353L	A	TGTGTGGGACAGGTAGGGAAG	NM_152550	NP_689763	145393623	Q8TEC5	SH3R2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	1296	+	T	T			Missense_Mutation	353						
SH3RF2	0	broad.mit.edu	GRCh37	5	145428731	145428731	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2615-01	TCGA-32-2615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359120.4:c.1245C>T	p.Asp415=	p.D415=	ENST00000359120	NM_152550.3	415	gaC/gaT	0		T:0	1	T:0		T	D	uc003lnt.2	protein_coding		CCDS4280.1			1245/2190									ovary(1)|skin(1)	2	c.(1243-1245)GAC>GAT			PROSITE_profiles:PS50002,hmmpanther:PTHR10661:SF6,hmmpanther:PTHR10661,Pfam_domain:PF14604,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044	SH3 domain containing ring finger 2		T:0		ENSP00000352028	T:0	10-Jul	4.94E-05	9.62E-05				1.50E-05		0.000242	rs561869294,COSM3409967	10-Jul	.		ENST00000359120	Transcript		T:0.0002			ligase activity|protein phosphatase 1 binding|zinc ion binding	ENSG00000156463	g.chr5:145428731C>T	26299			LOW								--	--	1																																OREG0016895	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	SH3RF2_uc011dbl.1_Silent_p.D415D|SH3RF2_uc011dbm.1_5'Flank|SH3RF2_uc003lnu.2_5'Flank	0,1				p.D415D	NM_152550	NP_689763	T:0.001		0,1	SH3R2_HUMAN	SH3RF2	HGNC	Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)				7	1483	+			UPI0000457366	415			SH3 3.		SNV	SH3RF2,synonymous_variant,p.=,ENST00000511217,;SH3RF2,synonymous_variant,p.=,ENST00000359120,NM_152550.3;SH3RF2,non_coding_transcript_exon_variant,,ENST00000509286,;SH3RF2,upstream_gene_variant,,ENST00000511705,;SH3RF2,upstream_gene_variant,,ENST00000503848,;	uc003lnt.2	c.1245C>T	1467/3027	2	2			c.1245C>T						5	SNP	c.(1243-1245)GAC>GAT	21	21			ovary(1)|skin(1)	2	Broad	SH3 domain containing ring finger 2			145428731		0.597	ENSG00000156463	14036	g.chr5:145428731C>T			ligase activity|protein phosphatase 1 binding|zinc ion binding							111.030208	KEEP	20	24	-1	47	45	20	24	-1	114.057982	47	45	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	T	OREG0016895	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	SH3RF2_uc011dbl.1_Silent_p.D415D|SH3RF2_uc011dbm.1_5'Flank|SH3RF2_uc003lnu.2_5'Flank	239	GBM-32-2615-TP	p.D415D	C	AGTGCCAGGACGGCTGGCTCA	NM_152550	NP_689763	145428731	Q8TEC5	SH3R2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1483	+	T	T			Silent	415			SH3 3.			
SH3RF2	0	broad.mit.edu	GRCh37	5	145393517	145393517	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2638-01	TCGA-32-2638-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359120.4:c.952C>T	p.Arg318Cys	p.R318C	ENST00000359120	NM_152550.3	318	Cgc/Tgc	0		T:0	1	T:0		T	R/C	uc003lnt.2	protein_coding		CCDS4280.1			952/2190									ovary(1)|skin(1)	2	c.(952-954)CGC>TGC			hmmpanther:PTHR10661:SF6,hmmpanther:PTHR10661	SH3 domain containing ring finger 2		T:0		ENSP00000352028	T:0	10-May	0.000387			0.000116		1.50E-05	0.0011	0.00267	rs563187260,COSM221232	10-May	common_variant		ENST00000359120	Transcript		T:0.0020			ligase activity|protein phosphatase 1 binding|zinc ion binding	ENSG00000156463	g.chr5:145393517C>T	26299			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=SH3R2_HUMAN&rb=303&re=334&var=R318C	NA	getma.org/?cm=var&var=hg19,5,145393517,C,T&fts=all	R318C	--	--	1																																		SH3RF2_uc011dbl.1_Missense_Mutation_p.R318C	0,1			possibly_damaging(0.893)	p.R318C	NM_152550	NP_689763	T:0.0102	deleterious(0)	0,1	SH3R2_HUMAN	SH3RF2	HGNC	Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)				5	1190	+			UPI0000457366	318					SNV	SH3RF2,missense_variant,p.Arg318Cys,ENST00000511217,;SH3RF2,missense_variant,p.Arg318Cys,ENST00000359120,NM_152550.3;	uc003lnt.2	c.952C>T	1174/3027	2	2			c.952C>T						5	SNP	c.(952-954)CGC>TGC	25	25			ovary(1)|skin(1)	2	Broad	SH3 domain containing ring finger 2			145393517		0.577	ENSG00000156463	14036	g.chr5:145393517C>T			ligase activity|protein phosphatase 1 binding|zinc ion binding							231.552096	KEEP	52	38	-1	60	69	52	38	-1	232.855258	60	69	0.412371	1	0	0	0	0	1	0	0	0	--	--		0	T			SH3RF2_uc011dbl.1_Missense_Mutation_p.R318C	242	GBM-32-2638-TP	p.R318C	C	TCCTTCAGGGCGCCATATGGT	NM_152550	NP_689763	145393517	Q8TEC5	SH3R2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	1190	+	T	T			Missense_Mutation	318						
SH3RF3	344558		GRCh37	2	110015136	110015136	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000309415.6:c.1036G>A	p.Gly346Ser	p.G346S	ENST00000309415	NM_001099289.1	346	Ggc/Agc	0																																																																																																																																																																																																																																												
SH3TC1	54436	broad.mit.edu	GRCh37	4	8230213	8230213	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01	TCGA-06-0195-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245105.3:c.2792G>A	p.Arg931Gln	p.R931Q	ENST00000245105	NM_018986.3	931	cGg/cAg	0			1			A	R/Q	uc003gkv.3	protein_coding	YES	CCDS3399.1			2792/4011									large_intestine(2)|pancreas(1)	3	c.(2791-2793)CGG>CAG			Superfamily_domains:SSF48452,SMART_domains:SM00028,Gene3D:1.25.40.10,hmmpanther:PTHR22647,hmmpanther:PTHR22647:SF3	SH3 domain and tetratricopeptide repeats 1				ENSP00000245105		18-Dec	2.48E-05					4.81E-05			rs776646348,COSM3409573	18-Dec	.		ENST00000245105	Transcript					binding	ENSG00000125089	g.chr4:8230213G>A	26009			MODERATE		0.515	neutral	getma.org/?cm=msa&ty=f&p=S3TC1_HUMAN&rb=785&re=984&var=R931Q	NA	getma.org/?cm=var&var=hg19,4,8230213,G,A&fts=all	R931Q	--	--	1																																		SH3TC1_uc003gkw.3_Missense_Mutation_p.R855Q|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank	0,1	1		benign(0.011)	p.R931Q	NM_018986	NP_061859		tolerated(0.31)	0,1	S3TC1_HUMAN	SH3TC1	HGNC	Q8TE82	S3TC1_HUMAN			F5GXD3_HUMAN,E7EQR1_HUMAN,D6RC98_HUMAN		12	2893	+			UPI000013CB93	931					SNV	SH3TC1,missense_variant,p.Arg855Gln,ENST00000539824,;SH3TC1,missense_variant,p.Arg931Gln,ENST00000245105,NM_018986.3;SH3TC1,downstream_gene_variant,,ENST00000514274,;SH3TC1,upstream_gene_variant,,ENST00000507801,;SH3TC1,3_prime_UTR_variant,,ENST00000515682,;SH3TC1,3_prime_UTR_variant,,ENST00000502669,;SH3TC1,non_coding_transcript_exon_variant,,ENST00000506360,;SH3TC1,upstream_gene_variant,,ENST00000502559,;SH3TC1,upstream_gene_variant,,ENST00000502350,;SH3TC1,upstream_gene_variant,,ENST00000508183,;SH3TC1,upstream_gene_variant,,ENST00000511002,;SH3TC1,downstream_gene_variant,,ENST00000509553,;SH3TC1,upstream_gene_variant,,ENST00000513495,;SH3TC1,downstream_gene_variant,,ENST00000508438,;	uc003gkv.3	c.2792G>A	2859/4226	1	1			c.2792G>A						4	SNP	c.(2791-2793)CGG>CAG	55	55			large_intestine(2)|pancreas(1)	3	Broad	SH3 domain and tetratricopeptide repeats 1			8230213		0.701	ENSG00000125089	14038	g.chr4:8230213G>A			binding	NSCLC(145;2298 2623 35616 37297)			NSCLC(145;2298 2623 35616 37297)			80.973714	KEEP	16	13	-1	17	23	16	13	-1	81.271064	17	23	0.423729	1	0	0	0	0	1	0	0	0	--	--		0	A			SH3TC1_uc003gkw.3_Missense_Mutation_p.R855Q|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank	45	GBM-06-0195-TP	p.R931Q	G	GAGGCCGTGCGGCTGTTCTCG	NM_018986	NP_061859	8230213	Q8TE82	S3TC1_HUMAN	0			12	2893	+	A	A			Missense_Mutation	931						
SH3TC1	0	broad.mit.edu	GRCh37	4	8233729	8233729	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-41-3392-01	TCGA-41-3392-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245105.3:c.2977T>A	p.Cys993Ser	p.C993S	ENST00000245105	NM_018986.3	993	Tgc/Agc	0			1			A	C/S	uc003gkv.3	protein_coding	YES	CCDS3399.1			2977/4011									large_intestine(2)|pancreas(1)	3	c.(2977-2979)TGC>AGC			Gene3D:1.25.40.10,hmmpanther:PTHR22647,hmmpanther:PTHR22647:SF3	SH3 domain and tetratricopeptide repeats 1				ENSP00000245105		13/18									COSM3409574	13/18	.		ENST00000245105	Transcript					binding	ENSG00000125089	g.chr4:8233729T>A	26009			MODERATE		1.63	low	getma.org/?cm=msa&ty=f&p=S3TC1_HUMAN&rb=985&re=1141&var=C993S	NA	getma.org/?cm=var&var=hg19,4,8233729,T,A&fts=all	C993S	--	--	1																																		SH3TC1_uc003gkw.3_Missense_Mutation_p.C917S|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_RNA	1	1		probably_damaging(0.963)	p.C993S	NM_018986	NP_061859		deleterious(0.01)	1	S3TC1_HUMAN	SH3TC1	HGNC	Q8TE82	S3TC1_HUMAN			F5GXD3_HUMAN,E7EQR1_HUMAN,D6RC98_HUMAN		13	3078	+			UPI000013CB93	993					SNV	SH3TC1,missense_variant,p.Cys917Ser,ENST00000539824,;SH3TC1,missense_variant,p.Cys993Ser,ENST00000245105,NM_018986.3;SH3TC1,non_coding_transcript_exon_variant,,ENST00000507801,;SH3TC1,downstream_gene_variant,,ENST00000514274,;SH3TC1,missense_variant,p.Cys48Ser,ENST00000511002,;SH3TC1,3_prime_UTR_variant,,ENST00000515682,;SH3TC1,3_prime_UTR_variant,,ENST00000502669,;SH3TC1,non_coding_transcript_exon_variant,,ENST00000506360,;SH3TC1,non_coding_transcript_exon_variant,,ENST00000502559,;SH3TC1,non_coding_transcript_exon_variant,,ENST00000502350,;SH3TC1,non_coding_transcript_exon_variant,,ENST00000508183,;SH3TC1,non_coding_transcript_exon_variant,,ENST00000513495,;SH3TC1,downstream_gene_variant,,ENST00000509553,;SH3TC1,downstream_gene_variant,,ENST00000508438,;	uc003gkv.3	c.2977T>A	3044/4226	1	1			c.2977T>A						4	SNP	c.(2977-2979)TGC>AGC	59	59			large_intestine(2)|pancreas(1)	3	Broad	SH3 domain and tetratricopeptide repeats 1			8233729		0.642	ENSG00000125089	14038	g.chr4:8233729T>A			binding	NSCLC(145;2298 2623 35616 37297)			NSCLC(145;2298 2623 35616 37297)			94.217777	KEEP	26	20	-1	38	36	26	20	-1	95.697206	38	36	0.365591	1	0	0	0	0	1	0	0	0	--	--		0	A			SH3TC1_uc003gkw.3_Missense_Mutation_p.C917S|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_RNA	254	GBM-41-3392-TP	p.C993S	T	CCAGCGGCTGTGCCACTTCTA	NM_018986	NP_061859	8233729	Q8TE82	S3TC1_HUMAN	0			13	3078	+	A	A			Missense_Mutation	993						
SH3TC2	0	broad.mit.edu	GRCh37	5	148427540	148427540	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-16-0846-01	TCGA-16-0846-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000515425.1:c.164C>G	p.Ser55Cys	p.S55C	ENST00000515425	NM_024577.3	55	tCc/tGc	0			1			C	S/C	uc003lpu.2	protein_coding	YES	CCDS4293.1			164/3867									ovary(2)	2	c.(163-165)TCC>TGC			hmmpanther:PTHR22647,hmmpanther:PTHR22647:SF2	SH3 domain and tetratricopeptide repeats 2				ENSP00000423660		17-Mar									COSM3409983	17-Mar	.		ENST00000515425	Transcript	1				binding	ENSG00000169247	g.chr5:148427540G>C	29427			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=S3TC2_HUMAN&rb=1&re=200&var=S55C	NA	getma.org/?cm=var&var=hg19,5,148427540,G,C&fts=all	S55C	--	--	1																																		SH3TC2_uc003lpp.1_RNA|SH3TC2_uc003lpt.2_5'UTR|SH3TC2_uc010jgx.2_Missense_Mutation_p.S55C|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_5'UTR|SH3TC2_uc003lpw.1_Missense_Mutation_p.S55C	1	1		possibly_damaging(0.67)	p.S55C	NM_024577	NP_078853		tolerated(0.13)	1	S3TC2_HUMAN	SH3TC2	HGNC	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		B3KXB9_HUMAN		3	316	-			UPI00001DFBEE	55					SNV	SH3TC2,missense_variant,p.Ser55Cys,ENST00000515425,NM_024577.3;SH3TC2,missense_variant,p.Ser55Cys,ENST00000512049,;SH3TC2,5_prime_UTR_variant,,ENST00000394358,;SH3TC2,missense_variant,p.Ser55Cys,ENST00000323829,;SH3TC2,missense_variant,p.Ser55Cys,ENST00000504690,;SH3TC2,missense_variant,p.Ser55Cys,ENST00000513604,;SH3TC2,missense_variant,p.Ser55Cys,ENST00000511307,;SH3TC2,non_coding_transcript_exon_variant,,ENST00000504091,;SH3TC2,non_coding_transcript_exon_variant,,ENST00000511949,;	uc003lpu.2	c.164C>G	266/4059	3	3			c.164C>G						5	SNP	c.(163-165)TCC>TGC	55	55			ovary(2)	2	Broad	SH3 domain and tetratricopeptide repeats 2			148427540		0.498	ENSG00000169247	14039	g.chr5:148427540G>C			binding							301.377798	KEEP	43	49	-1	62	64	43	49	-1	302.248638	62	64	0.428571	1	0	0	0	0	1	0	0	0	--	--		0	C			SH3TC2_uc003lpp.1_RNA|SH3TC2_uc003lpt.2_5'UTR|SH3TC2_uc010jgx.2_Missense_Mutation_p.S55C|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_5'UTR|SH3TC2_uc003lpw.1_Missense_Mutation_p.S55C	155	GBM-16-0846-TP	p.S55C	G	TACACAGAAGGAGAGTGTCAG	NM_024577	NP_078853	148427540	Q8TF17	S3TC2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	316	-	C	C			Missense_Mutation	55						
SHANK1	0	broad.mit.edu	GRCh37	19	51205808	51205808	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000293441.1:c.1663C>T	p.Pro555Ser	p.P555S	ENST00000293441	NM_016148.2	555	Ccc/Tcc	0			1			A	P/S	uc002psx.1	protein_coding	YES	CCDS12799.1			1663/6486									large_intestine(2)	2	c.(1663-1665)CCC>TCC			PROSITE_profiles:PS50002,hmmpanther:PTHR24135:SF3,hmmpanther:PTHR24135,Gene3D:2.30.30.40,Superfamily_domains:SSF50044	SH3 and multiple ankyrin repeat domains 1				ENSP00000293441		23-Nov									COSM2153648	23-Nov	.		ENST00000293441	Transcript	1		cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	ENSG00000161681	g.chr19:51205808G>A	15474			MODERATE		1.8	low	getma.org/?cm=msa&ty=f&p=SHAN1_HUMAN&rb=554&re=613&var=P555S	getma.org/pdb.php?prot=SHAN1_HUMAN&from=554&to=613&var=P555S	getma.org/?cm=var&var=hg19,19,51205808,G,A&fts=all	P555S	--	--	1																																			1	1		possibly_damaging(0.857)	p.P555S	NM_016148	NP_057232			1	SHAN1_HUMAN	SHANK1	HGNC	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)			11	1682	-		all_neural(266;0.057)	UPI000013E109	555			SH3.		SNV	SHANK1,missense_variant,p.Pro555Ser,ENST00000293441,NM_016148.2;SHANK1,missense_variant,p.Pro555Ser,ENST00000391814,;SHANK1,missense_variant,p.Pro555Ser,ENST00000359082,;SHANK1,downstream_gene_variant,,ENST00000461154,;	uc002psx.1	c.1663C>T	1682/6643	2	2			c.1663C>T						19	SNP	c.(1663-1665)CCC>TCC	36	36			large_intestine(2)	2	Broad	SH3 and multiple ankyrin repeat domains 1			51205808		0.697	ENSG00000161681	14041	g.chr19:51205808G>A	cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding							23.198166	KEEP	9	4	-1	1	12	9	4	-1	23.198166	1	12	0.5	1	0	0	0	0	1	0	0	0	--	--		0	A				120	GBM-12-0619-TP	p.P555S	G	GAGCGTCCGGGTACCGCTGAG	NM_016148	NP_057232	51205808	Q9Y566	SHAN1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	11	1682	-	A	A		all_neural(266;0.057)	Missense_Mutation	555			SH3.			
SHANK1	0	broad.mit.edu	GRCh37	19	51205832	51205832	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs148526987		TCGA-28-5209-01	TCGA-28-5209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000293441.1:c.1639C>T	p.Arg547Trp	p.R547W	ENST00000293441	NM_016148.2	547	Cgg/Tgg	0	A:0		1			A	R/W	uc002psx.1	protein_coding	YES	CCDS12799.1			1639/6486									large_intestine(2)	2	c.(1639-1641)CGG>TGG			Low_complexity_(Seg):seg,hmmpanther:PTHR24135:SF3,hmmpanther:PTHR24135,Superfamily_domains:SSF50044	SH3 and multiple ankyrin repeat domains 1			A:0.0002	ENSP00000293441		23-Nov	5.77E-05					0.000126			rs148526987,COSM3404484	23-Nov	.		ENST00000293441	Transcript	1		cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	ENSG00000161681	g.chr19:51205832G>A	15474			MODERATE		1.24	low	getma.org/?cm=msa&ty=f&p=SHAN1_HUMAN&rb=410&re=558&var=R547W	NA	getma.org/?cm=var&var=hg19,19,51205832,G,A&fts=all	R547W	--	--	1																																			0,1	1		possibly_damaging(0.876)	p.R547W	NM_016148	NP_057232			0,1	SHAN1_HUMAN	SHANK1	HGNC	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)			11	1658	-		all_neural(266;0.057)	UPI000013E109	547					SNV	SHANK1,missense_variant,p.Arg547Trp,ENST00000293441,NM_016148.2;SHANK1,missense_variant,p.Arg547Trp,ENST00000391814,;SHANK1,missense_variant,p.Arg547Trp,ENST00000359082,;SHANK1,downstream_gene_variant,,ENST00000461154,;	uc002psx.1	c.1639C>T	1658/6643	2	2			c.1639C>T						19	SNP	c.(1639-1641)CGG>TGG	22	22			large_intestine(2)	2	Broad	SH3 and multiple ankyrin repeat domains 1			51205832		0.711	ENSG00000161681	14041	g.chr19:51205832G>A	cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding							32.044299	KEEP	7	10	-1	24	25	7	10	-1	33.013145	24	25	0.340909	1	0	0	0	0	1	0	0	0	--	--		0	A				218	GBM-28-5209-TP	p.R547W	G	AGCTTCCTCCGCCTCCCGCGG	NM_016148	NP_057232	51205832	Q9Y566	SHAN1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	11	1658	-	A	A		all_neural(266;0.057)	Missense_Mutation	547						
SHANK2	22941		GRCh37	11	70319235	70319235	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000338508.4:c.5292G>A	p.Ser1764=	p.S1764=	ENST00000338508		1764	tcG/tcA	0																																																																																																																																																																																																																																												
SHB	0	broad.mit.edu	GRCh37	9	37919970	37919970	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-5299-01	TCGA-12-5299-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377707.3:c.1378G>A	p.Ala460Thr	p.A460T	ENST00000377707	NM_003028.2	460	Gcc/Acc	0			1			T	A/T	uc004aax.2	protein_coding	YES	CCDS43806.1			1378/1530									central_nervous_system(2)|skin(1)	3	c.(1378-1380)GCC>ACC			Superfamily_domains:SSF55550,SMART_domains:SM00252,Gene3D:3.30.505.10,Pfam_domain:PF00017,hmmpanther:PTHR15127,hmmpanther:PTHR15127:SF31,PROSITE_profiles:PS50001	Src homology 2 domain containing adaptor protein				ENSP00000366936		6-Jun									COSM3413654	6-Jun	.		ENST00000377707	Transcript			angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity	ENSG00000107338	g.chr9:37919970C>T	10838			MODERATE		0.04	neutral	getma.org/?cm=msa&ty=f&p=SHB_HUMAN&rb=410&re=485&var=A460T	getma.org/pdb.php?prot=SHB_HUMAN&from=410&to=485&var=A460T	getma.org/?cm=var&var=hg19,9,37919970,C,T&fts=all	A460T	--	--	1																																			1	1		benign(0.006)	p.A460T	NM_003028	NP_003019		tolerated(0.89)	1	SHB_HUMAN	SHB	HGNC	Q15464	SHB_HUMAN		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)			6	1946	-		all_epithelial(88;0.122)	UPI000021143B	460			SH2.		SNV	SHB,missense_variant,p.Ala460Thr,ENST00000377707,NM_003028.2;RP11-613M10.9,intron_variant,,ENST00000540557,;	uc004aax.2	c.1378G>A	1944/2783	1	1			c.1378G>A						9	SNP	c.(1378-1380)GCC>ACC	6	6			central_nervous_system(2)|skin(1)	3	Broad	Src homology 2 domain containing adaptor protein			37919970		0.502	ENSG00000107338	14045	g.chr9:37919970C>T	angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity							-38.467339	KEEP	1	4	-1	86	111	1	4	-1	7.09815	86	111	0.022346	1	0	0	0	0	1	0	0	0	--	--		0	T				130	GBM-12-5299-TP	p.A460T	C	TTGGTTTTGGCCAGTTTCATG	NM_003028	NP_003019	37919970	Q15464	SHB_HUMAN	0		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)	6	1946	-	T	T		all_epithelial(88;0.122)	Missense_Mutation	460			SH2.			
SHB	0	broad.mit.edu	GRCh37	9	37919970	37919970	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6282-01	TCGA-76-6282-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377707.3:c.1378G>A	p.Ala460Thr	p.A460T	ENST00000377707	NM_003028.2	460	Gcc/Acc	0			1			T	A/T	uc004aax.2	protein_coding	YES	CCDS43806.1			1378/1530									central_nervous_system(2)|skin(1)	3	c.(1378-1380)GCC>ACC			Superfamily_domains:SSF55550,SMART_domains:SM00252,Gene3D:3.30.505.10,Pfam_domain:PF00017,hmmpanther:PTHR15127,hmmpanther:PTHR15127:SF31,PROSITE_profiles:PS50001	Src homology 2 domain containing adaptor protein				ENSP00000366936		6-Jun									COSM3413654	6-Jun	.		ENST00000377707	Transcript			angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity	ENSG00000107338	g.chr9:37919970C>T	10838			MODERATE		0.04	neutral	getma.org/?cm=msa&ty=f&p=SHB_HUMAN&rb=410&re=485&var=A460T	getma.org/pdb.php?prot=SHB_HUMAN&from=410&to=485&var=A460T	getma.org/?cm=var&var=hg19,9,37919970,C,T&fts=all	A460T	--	--	1																																			1	1		benign(0.006)	p.A460T	NM_003028	NP_003019		tolerated(0.89)	1	SHB_HUMAN	SHB	HGNC	Q15464	SHB_HUMAN		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)			6	1946	-		all_epithelial(88;0.122)	UPI000021143B	460			SH2.		SNV	SHB,missense_variant,p.Ala460Thr,ENST00000377707,NM_003028.2;RP11-613M10.9,intron_variant,,ENST00000540557,;	uc004aax.2	c.1378G>A	1944/2783	1	1			c.1378G>A						9	SNP	c.(1378-1380)GCC>ACC	6	6			central_nervous_system(2)|skin(1)	3	Broad	Src homology 2 domain containing adaptor protein			37919970		0.502	ENSG00000107338	14045	g.chr9:37919970C>T	angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity							-4.251161	KEEP	1	2	-1	22	33	1	2	-1	6.631716	22	33	0.056604	1	0	0	0	0	1	0	0	0	--	--		0	T				278	GBM-76-6282-TP	p.A460T	C	TTGGTTTTGGCCAGTTTCATG	NM_003028	NP_003019	37919970	Q15464	SHB_HUMAN	0		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)	6	1946	-	T	T		all_epithelial(88;0.122)	Missense_Mutation	460			SH2.			
SHC4	0	broad.mit.edu	GRCh37	15	49217141	49217141	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-41-5651-01	TCGA-41-5651-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332408.4:c.591G>T	p.Met197Ile	p.M197I	ENST00000332408	NM_203349.3	197	atG/atT	0			1			A	M/I	uc001zxb.1	protein_coding	YES	CCDS10130.1			591/1893									ovary(3)|pancreas(2)	5	c.(589-591)ATG>ATT			PROSITE_profiles:PS01179,hmmpanther:PTHR10337,hmmpanther:PTHR10337:SF12,Gene3D:2.30.29.30,Pfam_domain:PF00640,SMART_domains:SM00462,Superfamily_domains:SSF50729,Prints_domain:PR00629	rai-like protein				ENSP00000329668		12-Feb									COSM3401784	12-Feb	.		ENST00000332408	Transcript			intracellular signal transduction	cell junction|postsynaptic membrane		ENSG00000185634	g.chr15:49217141C>A	16743			MODERATE		1.505	low	getma.org/?cm=msa&ty=f&p=SHC4_HUMAN&rb=192&re=348&var=M197I	getma.org/pdb.php?prot=SHC4_HUMAN&from=192&to=348&var=M197I	getma.org/?cm=var&var=hg19,15,49217141,C,A&fts=all	M197I	--	--	1																																			1	1		benign(0.172)	p.M197I	NM_203349	NP_976224		deleterious(0.03)	1	SHC4_HUMAN	SHC4	HGNC	Q6S5L8	SHC4_HUMAN		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)	H0YLZ2_HUMAN,F5H5M1_HUMAN,B3KWT2_HUMAN,B3KWE9_HUMAN		2	1020	-		all_lung(180;0.00466)	UPI00001B00C8	197			PID.		SNV	SHC4,missense_variant,p.Met197Ile,ENST00000332408,NM_203349.3;	uc001zxb.1	c.591G>T	1020/4558	1	1			c.591G>T						15	SNP	c.(589-591)ATG>ATT	64	64			ovary(3)|pancreas(2)	5	Broad	rai-like protein			49217141		0.413	ENSG00000185634	14050	g.chr15:49217141C>A	intracellular signal transduction	cell junction|postsynaptic membrane								72.087113	KEEP	10	14	0.583333333	5	5	10	14	0.583333333	73.398198	5	5	0.724138	1	0	0	0	0	1	0	0	0	--	--		0	A				258	GBM-41-5651-TP	p.M197I	C	CAACACAGCCCATGTACTACA	NM_203349	NP_976224	49217141	Q6S5L8	SHC4_HUMAN	0		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)	2	1020	-	A	A		all_lung(180;0.00466)	Missense_Mutation	197			PID.			
SHCBP1	0	broad.mit.edu	GRCh37	16	46615749	46615749	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-5215-01	TCGA-28-5215-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303383.3:c.1911G>A	p.Gly637=	p.G637=	ENST00000303383	NM_024745.4	637	ggG/ggA	0			1			T	G	uc002eec.3	protein_coding	YES	CCDS10720.1			1911/2019									ovary(1)|breast(1)	2	c.(1909-1911)GGG>GGA			hmmpanther:PTHR14695,hmmpanther:PTHR14695:SF6	SHC SH2-domain binding protein 1				ENSP00000306473		13/13									COSM3402330	13/13	.		ENST00000303383	Transcript						ENSG00000171241	g.chr16:46615749C>T	29547			LOW								--	--	1																																			1	1			p.G637G	NM_024745	NP_079021			1	SHCBP_HUMAN	SHCBP1	HGNC	Q8NEM2	SHCBP_HUMAN					13	1951	-		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)	UPI000013E898	637					SNV	SHCBP1,synonymous_variant,p.=,ENST00000303383,NM_024745.4;SHCBP1,downstream_gene_variant,,ENST00000567698,;	uc002eec.3	c.1911G>A	2178/3461	2	2			c.1911G>A						16	SNP	c.(1909-1911)GGG>GGA	41	41			ovary(1)|breast(1)	2	Broad	SHC SH2-domain binding protein 1			46615749		0.433	ENSG00000171241	14051	g.chr16:46615749C>T										328.898803	KEEP	58	63	-1	87	74	58	63	-1	330.126722	87	74	0.427509	1	0	0	0	0	0	0	1	0	--	--		0	T				222	GBM-28-5215-TP	p.G637G	C	CTTGCGTGATCCCCAGTTCAC	NM_024745	NP_079021	46615749	Q8NEM2	SHCBP_HUMAN	0			13	1951	-	T	T		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)	Silent	637						
SHCBP1L	0	broad.mit.edu	GRCh37	1	182922239	182922239	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367547.3:c.30C>T	p.Pro10=	p.P10=	ENST00000367547	NM_030933.2	10	ccC/ccT	0			1			A	P	uc001gpu.2	protein_coding	YES	CCDS30955.1			30/1962										0	c.(28-30)CCC>CCT				chromosome 1 open reading frame 14				ENSP00000356518		10-Jan									COSM3400075	10-Jan	.		ENST00000367547	Transcript						ENSG00000157060	g.chr1:182922239G>A	16788			LOW								--	--	1																																		C1orf14_uc001gpv.2_5'UTR|C1orf14_uc010pnz.1_5'UTR|C1orf14_uc001gpw.2_5'UTR	1	1			p.P10P	NM_030933	NP_112195			1	SHP1L_HUMAN	SHCBP1L	HGNC	Q9BZQ2	SHP1L_HUMAN		Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)			1	315	-			UPI000006F7B9	82					SNV	SHCBP1L,synonymous_variant,p.=,ENST00000367547,NM_030933.2;SHCBP1L,upstream_gene_variant,,ENST00000423786,;SHCBP1L,non_coding_transcript_exon_variant,,ENST00000488956,;SHCBP1L,non_coding_transcript_exon_variant,,ENST00000497549,;SHCBP1L,upstream_gene_variant,,ENST00000483655,;SHCBP1L,upstream_gene_variant,,ENST00000467208,;RP11-505O17.1,downstream_gene_variant,,ENST00000418657,;	uc001gpu.2	c.30C>T	267/2317	1	1			c.30C>T						1	SNP	c.(28-30)CCC>CCT	60	60				0	Broad	chromosome 1 open reading frame 14			182922239		0.716	ENSG00000157060	1957	g.chr1:182922239G>A										7.426168	KEEP	0	3	-1	7	5	0	3	-1	8.284149	7	5	0.230769	1	0	0	0	0	0	0	1	0	--	--		0	A			C1orf14_uc001gpv.2_5'UTR|C1orf14_uc010pnz.1_5'UTR|C1orf14_uc001gpw.2_5'UTR	160	GBM-19-1790-TP	p.P10P	G	ATGAGTCCGCGGGCACCGAGG	NM_030933	NP_112195	182922239	Q9BZQ2	SHP1L_HUMAN	0		Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)	1	315	-	A	A			Silent	82						
SHCBP1L	0	broad.mit.edu	GRCh37	1	182920519	182920519	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-26-1442-01	TCGA-26-1442-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367547.3:c.489T>A	p.Thr163=	p.T163=	ENST00000367547	NM_030933.2	163	acT/acA	0			1			T	T	uc001gpu.2	protein_coding	YES	CCDS30955.1			489/1962										0	c.(487-489)ACT>ACA			hmmpanther:PTHR14695,hmmpanther:PTHR14695:SF7	chromosome 1 open reading frame 14				ENSP00000356518		10-Feb									COSM2156901	10-Feb	.		ENST00000367547	Transcript						ENSG00000157060	g.chr1:182920519A>T	16788			LOW								--	--	1																																		C1orf14_uc001gpv.2_Silent_p.T44T|C1orf14_uc010pnz.1_Silent_p.T21T|C1orf14_uc001gpw.2_5'UTR	1	1			p.T163T	NM_030933	NP_112195			1	SHP1L_HUMAN	SHCBP1L	HGNC	Q9BZQ2	SHP1L_HUMAN		Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)			2	774	-			UPI000006F7B9	235					SNV	SHCBP1L,synonymous_variant,p.=,ENST00000367547,NM_030933.2;SHCBP1L,synonymous_variant,p.=,ENST00000423786,;SHCBP1L,non_coding_transcript_exon_variant,,ENST00000488956,;SHCBP1L,non_coding_transcript_exon_variant,,ENST00000483655,;SHCBP1L,non_coding_transcript_exon_variant,,ENST00000497549,;SHCBP1L,non_coding_transcript_exon_variant,,ENST00000467208,;RP11-505O17.1,downstream_gene_variant,,ENST00000418657,;	uc001gpu.2	c.489T>A	726/2317	2	2			c.489T>A						1	SNP	c.(487-489)ACT>ACA	39	39				0	Broad	chromosome 1 open reading frame 14			182920519		0.318	ENSG00000157060	1957	g.chr1:182920519A>T										68.06509	KEEP	10	14	-1	15	24	10	14	-1	68.677278	15	24	0.393443	1	0	0	0	0	0	0	1	0	--	--		0	T			C1orf14_uc001gpv.2_Silent_p.T44T|C1orf14_uc010pnz.1_Silent_p.T21T|C1orf14_uc001gpw.2_5'UTR	180	GBM-26-1442-TP	p.T163T	A	CACTGGGATTAGTCTTCCAGA	NM_030933	NP_112195	182920519	Q9BZQ2	SHP1L_HUMAN	0		Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)	2	774	-	T	T			Silent	235						
SHCBP1L	81626		GRCh37	1	182898838	182898838	+	stop_gained	Nonsense_Mutation	SNP	T	T	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000367547.3:c.1126A>T	p.Arg376Ter	p.R376*	ENST00000367547	NM_030933.2	376	Aga/Tga	0																																																																																																																																																																																																																																												
SHH	6469	broad.mit.edu	GRCh37	7	155599026	155599026	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297261.2:c.526G>A	p.Glu176Lys	p.E176K	ENST00000297261	NM_000193.2	176	Gag/Aag	0			1			T	E/K	uc003wmk.1	protein_coding	YES	CCDS5942.1			526/1389									central_nervous_system(3)|lung(1)	4	c.(526-528)GAG>AAG			hmmpanther:PTHR11889:SF36,hmmpanther:PTHR11889,Gene3D:3.30.1380.10,Pfam_domain:PF01085,PIRSF_domain:PIRSF009400,Superfamily_domains:SSF55166,Prints_domain:PR00632	sonic hedgehog preproprotein				ENSP00000297261		3-Feb									COSM2152133	3-Feb	.		ENST00000297261	Transcript	1		androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding	ENSG00000164690	g.chr7:155599026C>T	10848			MODERATE		2.93	medium	getma.org/?cm=msa&ty=f&p=SHH_HUMAN&rb=24&re=184&var=E176K	getma.org/pdb.php?prot=SHH_HUMAN&from=24&to=184&var=E176K	getma.org/?cm=var&var=hg19,7,155599026,C,T&fts=all	E176K	--	--	1																																		SHH_uc003wmh.1_RNA|SHH_uc003wmi.1_Missense_Mutation_p.E89K|SHH_uc003wmj.1_Missense_Mutation_p.E89K	1	1		probably_damaging(0.987)	p.E176K	NM_000193	NP_000184		deleterious(0)	1	SHH_HUMAN	SHH	HGNC	Q15465	SHH_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	D9ZGF9_HUMAN		2	677	-	all_neural(206;0.101)	all_hematologic(28;0.0592)	UPI0000135942	176		Missing (in HPE3).			SNV	SHH,missense_variant,p.Glu176Lys,ENST00000297261,NM_000193.2;SHH,missense_variant,p.Glu89Lys,ENST00000430104,;SHH,downstream_gene_variant,,ENST00000472308,;SHH,missense_variant,p.Glu89Lys,ENST00000441114,;SHH,missense_variant,p.Glu89Lys,ENST00000435425,;	uc003wmk.1	c.526G>A	677/4454	1	1			c.526G>A						7	SNP	c.(526-528)GAG>AAG	1	1			central_nervous_system(3)|lung(1)	4	Broad	sonic hedgehog preproprotein			155599026		0.652	ENSG00000164690	14056	g.chr7:155599026C>T	androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			109			109	136.63129	KEEP	24	34	-1	75	79	24	34	-1	144.751995	75	79	0.27957	1	0	0	0	0	1	0	0	0	--	--		0	T			SHH_uc003wmh.1_RNA|SHH_uc003wmi.1_Missense_Mutation_p.E89K|SHH_uc003wmj.1_Missense_Mutation_p.E89K	73	GBM-06-0877-TP	p.E176K	C	GCCTTGGACTCGTAGTACACC	NM_000193	NP_000184	155599026	Q15465	SHH_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	677	-	T	T	all_neural(206;0.101)	all_hematologic(28;0.0592)	Missense_Mutation	176		Missing (in HPE3).				
SHH	6469	broad.mit.edu	GRCh37	7	155599041	155599041	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297261.2:c.511G>A	p.Asp171Asn	p.D171N	ENST00000297261	NM_000193.2	171	Gac/Aac	0			1			T	D/N	uc003wmk.1	protein_coding	YES	CCDS5942.1			511/1389									central_nervous_system(3)|lung(1)	4	c.(511-513)GAC>AAC			hmmpanther:PTHR11889:SF36,hmmpanther:PTHR11889,Gene3D:3.30.1380.10,Pfam_domain:PF01085,PIRSF_domain:PIRSF009400,Superfamily_domains:SSF55166,Prints_domain:PR00632	sonic hedgehog preproprotein				ENSP00000297261		3-Feb									COSM2152129	3-Feb	.		ENST00000297261	Transcript	1		androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding	ENSG00000164690	g.chr7:155599041C>T	10848			MODERATE		3.7	high	getma.org/?cm=msa&ty=f&p=SHH_HUMAN&rb=24&re=184&var=D171N	getma.org/pdb.php?prot=SHH_HUMAN&from=24&to=184&var=D171N	getma.org/?cm=var&var=hg19,7,155599041,C,T&fts=all	D171N	--	--	1																																		SHH_uc003wmh.1_RNA|SHH_uc003wmi.1_Missense_Mutation_p.D84N|SHH_uc003wmj.1_Missense_Mutation_p.D84N	1	1		probably_damaging(0.997)	p.D171N	NM_000193	NP_000184		deleterious(0)	1	SHH_HUMAN	SHH	HGNC	Q15465	SHH_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	D9ZGF9_HUMAN		2	662	-	all_neural(206;0.101)	all_hematologic(28;0.0592)	UPI0000135942	171		D -> H (in HPE3).			SNV	SHH,missense_variant,p.Asp171Asn,ENST00000297261,NM_000193.2;SHH,missense_variant,p.Asp84Asn,ENST00000430104,;SHH,downstream_gene_variant,,ENST00000472308,;SHH,missense_variant,p.Asp84Asn,ENST00000441114,;SHH,missense_variant,p.Asp84Asn,ENST00000435425,;	uc003wmk.1	c.511G>A	662/4454	2	2			c.511G>A						7	SNP	c.(511-513)GAC>AAC	30	30			central_nervous_system(3)|lung(1)	4	Broad	sonic hedgehog preproprotein			155599041		0.652	ENSG00000164690	14056	g.chr7:155599041C>T	androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			109			109	96.516586	KEEP	15	31	-1	68	69	15	31	-1	104.213518	68	69	0.261745	1	0	0	0	0	1	0	0	0	--	--		0	T			SHH_uc003wmh.1_RNA|SHH_uc003wmi.1_Missense_Mutation_p.D84N|SHH_uc003wmj.1_Missense_Mutation_p.D84N	73	GBM-06-0877-TP	p.D171N	C	TACACCCAGTCGAAGCCGGCC	NM_000193	NP_000184	155599041	Q15465	SHH_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	662	-	T	T	all_neural(206;0.101)	all_hematologic(28;0.0592)	Missense_Mutation	171		D -> H (in HPE3).				
SHISA2	387914		GRCh37	13	26621160	26621160	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000319420.3:c.379G>A	p.Ala127Thr	p.A127T	ENST00000319420	NM_001007538.1	127	Gcc/Acc	0																																																																																																																																																																																																																																												
SHISA5	0	broad.mit.edu	GRCh37	3	48510545	48510545	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-4068-01	TCGA-19-4068-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296444.2:c.684C>T	p.Tyr228=	p.Y228=	ENST00000296444	NM_001272065.1	228	taC/taT	0			1			A	Y	uc003ctp.1	protein_coding	YES	CCDS2770.1			684/723										0	c.(682-684)TAC>TAT			hmmpanther:PTHR14140,Low_complexity_(Seg):seg	scotin precursor				ENSP00000296444		6-Jun									COSM2156508,COSM3408718	6-Jun	.		ENST00000296444	Transcript			apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding	ENSG00000164054	g.chr3:48510545G>A	30376			LOW								--	--	1																																		SHISA5_uc003ctn.1_Nonsense_Mutation_p.Q97*|SHISA5_uc003ctm.1_Silent_p.Y125Y|SHISA5_uc011bbk.1_Nonsense_Mutation_p.Q137*|SHISA5_uc003cto.1_Silent_p.Y197Y|SHISA5_uc003ctq.1_Silent_p.Y221Y|SHISA5_uc003ctr.1_Silent_p.Y197Y|SHISA5_uc003cts.1_Silent_p.Y197Y|SHISA5_uc003ctt.2_3'UTR|SHISA5_uc003ctu.1_RNA|SHISA5_uc011bbl.1_Silent_p.Y126Y	1,1	1			p.Y228Y	NM_016479	NP_057563			1,1	SHSA5_HUMAN	SHISA5	HGNC	Q8N114	SHSA5_HUMAN			C9IZ46_HUMAN,B7Z6Z2_HUMAN		6	818	-			UPI000003B0C1	228			Cytoplasmic (Potential).|Pro-rich.		SNV	SHISA5,synonymous_variant,p.=,ENST00000296444,NM_001272065.1,NM_016479.4;SHISA5,synonymous_variant,p.=,ENST00000442747,NM_001272067.1;SHISA5,synonymous_variant,p.=,ENST00000444115,NM_001272066.1;SHISA5,synonymous_variant,p.=,ENST00000443308,;SHISA5,synonymous_variant,p.=,ENST00000426002,NM_001272082.1,NM_001272083.1;ATRIP,downstream_gene_variant,,ENST00000412052,NM_001271023.1;ATRIP,downstream_gene_variant,,ENST00000320211,NM_130384.2;ATRIP,downstream_gene_variant,,ENST00000346691,NM_032166.3;ATRIP,downstream_gene_variant,,ENST00000357105,NM_001271022.1;TREX1,downstream_gene_variant,,ENST00000296443,;TREX1,downstream_gene_variant,,ENST00000422277,NM_016381.4;TREX1,downstream_gene_variant,,ENST00000436480,NM_033629.3;TREX1,downstream_gene_variant,,ENST00000444177,NM_007248.2;TREX1,downstream_gene_variant,,ENST00000433541,;TREX1,downstream_gene_variant,,ENST00000456089,;SHISA5,downstream_gene_variant,,ENST00000417841,;SHISA5,non_coding_transcript_exon_variant,,ENST00000465449,;SHISA5,intron_variant,,ENST00000466424,;SHISA5,downstream_gene_variant,,ENST00000486344,;TREX1,downstream_gene_variant,,ENST00000492235,;SHISA5,3_prime_UTR_variant,,ENST00000417962,NM_001272068.1;SHISA5,non_coding_transcript_exon_variant,,ENST00000494854,;SHISA5,non_coding_transcript_exon_variant,,ENST00000460758,;SHISA5,non_coding_transcript_exon_variant,,ENST00000497863,;ATRIP,downstream_gene_variant,,ENST00000424906,;TREX1,downstream_gene_variant,,ENST00000395677,;SHISA5,downstream_gene_variant,,ENST00000424965,;SHISA5,downstream_gene_variant,,ENST00000415268,;	uc003ctp.1	c.684C>T	1021/2369	1	1			c.684C>T						3	SNP	c.(682-684)TAC>TAT	50	50				0	Broad	scotin precursor			48510545		0.637	ENSG00000164054	14060	g.chr3:48510545G>A	apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding							194.208823	KEEP	36	46	-1	43	63	36	46	-1	194.423261	43	63	0.458904	1	0	0	0	0	0	0	1	0	--	--		0	A			SHISA5_uc003ctn.1_Nonsense_Mutation_p.Q97*|SHISA5_uc003ctm.1_Silent_p.Y125Y|SHISA5_uc011bbk.1_Nonsense_Mutation_p.Q137*|SHISA5_uc003cto.1_Silent_p.Y197Y|SHISA5_uc003ctq.1_Silent_p.Y221Y|SHISA5_uc003ctr.1_Silent_p.Y197Y|SHISA5_uc003cts.1_Silent_p.Y197Y|SHISA5_uc003ctt.2_3'UTR|SHISA5_uc003ctu.1_RNA|SHISA5_uc011bbl.1_Silent_p.Y126Y	168	GBM-19-4068-TP	p.Y228Y	G	AGGCCGGGTTGTAAGGAGGCT	NM_016479	NP_057563	48510545	Q8N114	SHSA5_HUMAN	0			6	818	-	A	A			Silent	228			Cytoplasmic (Potential).|Pro-rich.			
SHISA5	51246		GRCh37	3	48520627	48520627	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000296444.2:c.273G>A	p.Ser91=	p.S91=	ENST00000296444	NM_001272065.1	91	tcG/tcA	0																																																																																																																																																																																																																																												
SHKBP1	0	broad.mit.edu	GRCh37	19	41096902	41096902	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-6282-01	TCGA-76-6282-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000291842.5:c.1913A>G	p.Asn638Ser	p.N638S	ENST00000291842	NM_138392.3	638	aAc/aGc	0			1			G	N/S	uc002oob.2	protein_coding	YES	CCDS12560.1			1913/2124									ovary(1)|pancreas(1)	2	c.(1912-1914)AAC>AGC			hmmpanther:PTHR15859,hmmpanther:PTHR15859:SF3,Low_complexity_(Seg):seg	SH3KBP1 binding protein 1				ENSP00000291842		18/18									COSM3404243	18/18	.		ENST00000291842	Transcript				voltage-gated potassium channel complex	voltage-gated potassium channel activity	ENSG00000160410	g.chr19:41096902A>G	19214			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=SHKB1_HUMAN&rb=511&re=707&var=N638S	NA	getma.org/?cm=var&var=hg19,19,41096902,A,G&fts=all	N638S	--	--	1																																		SHKBP1_uc002ooc.2_Missense_Mutation_p.N613S|SHKBP1_uc002ood.2_Missense_Mutation_p.N546S|SHKBP1_uc002ooe.2_Missense_Mutation_p.N475S|SHKBP1_uc002oof.2_Missense_Mutation_p.N474S|SHKBP1_uc010xvm.1_Missense_Mutation_p.N418S|SHKBP1_uc010xvn.1_Missense_Mutation_p.N516S|LTBP4_uc002oog.1_5'Flank	1	1		benign(0)	p.N638S	NM_138392	NP_612401		tolerated_low_confidence(0.58)	1	SHKB1_HUMAN	SHKBP1	HGNC	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		B3KVX8_HUMAN		18	1962	+			UPI0000036171	638					SNV	SHKBP1,missense_variant,p.Asn638Ser,ENST00000291842,NM_138392.3;SHKBP1,missense_variant,p.Asn613Ser,ENST00000600733,;SHKBP1,missense_variant,p.Asn541Ser,ENST00000600718,;SHKBP1,missense_variant,p.Asn208Ser,ENST00000597396,;SHKBP1,missense_variant,p.Asn181Ser,ENST00000600320,;SHKBP1,missense_variant,p.Asn239Ser,ENST00000602011,;SHKBP1,missense_variant,p.Asn193Ser,ENST00000593764,;SHKBP1,missense_variant,p.Asn106Ser,ENST00000594298,;SHKBP1,missense_variant,p.Asn95Ser,ENST00000595726,;SHKBP1,missense_variant,p.Asn74Ser,ENST00000594862,;LTBP4,upstream_gene_variant,,ENST00000204005,NM_003573.2;LTBP4,upstream_gene_variant,,ENST00000545697,;LTBP4,upstream_gene_variant,,ENST00000602240,;SHKBP1,downstream_gene_variant,,ENST00000597649,;LTBP4,upstream_gene_variant,,ENST00000599016,;LTBP4,upstream_gene_variant,,ENST00000600026,;SHKBP1,3_prime_UTR_variant,,ENST00000596163,;SHKBP1,non_coding_transcript_exon_variant,,ENST00000594973,;SHKBP1,non_coding_transcript_exon_variant,,ENST00000598201,;SHKBP1,non_coding_transcript_exon_variant,,ENST00000602239,;SHKBP1,downstream_gene_variant,,ENST00000599833,;SHKBP1,downstream_gene_variant,,ENST00000600791,;	uc002oob.2	c.1913A>G	1962/2363	4	4			c.1913A>G						19	SNP	c.(1912-1914)AAC>AGC	30	30			ovary(1)|pancreas(1)	2	Broad	SH3KBP1 binding protein 1			41096902		0.662	ENSG00000160410	14061	g.chr19:41096902A>G		voltage-gated potassium channel complex	voltage-gated potassium channel activity							34.641164	KEEP	6	5	-1	13	14	6	5	-1	35.506512	13	14	0.322581	1	0	0	0	0	1	0	0	0	--	--		0	G			SHKBP1_uc002ooc.2_Missense_Mutation_p.N613S|SHKBP1_uc002ood.2_Missense_Mutation_p.N546S|SHKBP1_uc002ooe.2_Missense_Mutation_p.N475S|SHKBP1_uc002oof.2_Missense_Mutation_p.N474S|SHKBP1_uc010xvm.1_Missense_Mutation_p.N418S|SHKBP1_uc010xvn.1_Missense_Mutation_p.N516S|LTBP4_uc002oog.1_5'Flank	278	GBM-76-6282-TP	p.N638S	A	GCCTCCAGCAACACCTCCTTG	NM_138392	NP_612401	41096902	Q8TBC3	SHKB1_HUMAN	0	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		18	1962	+	G	G			Missense_Mutation	638						
SHKBP1	92799		GRCh37	19	41083170	41083170	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000291842.5:c.120C>A	p.Ile40=	p.I40=	ENST00000291842	NM_138392.3	40	atC/atA	0																																																																																																																																																																																																																																												
SHPK	0	broad.mit.edu	GRCh37	17	3524530	3524530	+	splice_donor_variant	Splice_Site	SNP	C	C	T			TCGA-76-6285-01	TCGA-76-6285-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000225519.3:c.823+1G>A		p.X275_splice	ENST00000225519	NM_013276.2			0			1			T		uc002fvz.1	protein_coding	YES	CCDS11030.1			823/1437									ovary(1)	1	c.e5+1				carbohydrate kinase-like				ENSP00000225519											COSM3402803		.		ENST00000225519	Transcript			carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity	ENSG00000197417	g.chr17:3524530C>T	1492			HIGH	6-May							--	--	1																																			1	1			p.V275_splice	NM_013276	NP_037408			1	SHPK_HUMAN	SHPK	HGNC	Q9UHJ6	SHPK_HUMAN		COAD - Colon adenocarcinoma(5;0.0828)			5	926	-			UPI000013C86F						SNV	SHPK,splice_donor_variant,,ENST00000225519,NM_013276.2;SHPK,splice_donor_variant,,ENST00000572919,;RP11-235E17.5,upstream_gene_variant,,ENST00000575326,;	uc002fvz.1	c.823_splice	-/3838	5	2			c.823_splice						17	SNP	c.e5+1	28	28			ovary(1)	1	Broad	carbohydrate kinase-like			3524530		0.522	ENSG00000197417	14066	g.chr17:3524530C>T	carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity							24.500863	KEEP	4	4	-1	2	4	4	4	-1	24.563001	2	4	0.571429	1	0	0	0	0	0	0	0	1	--	--		0	T				280	GBM-76-6285-TP	p.V275_splice	C	GAAAAACTTACCTGCATCTGT	NM_013276	NP_037408	3524530	Q9UHJ6	SHPK_HUMAN	0		COAD - Colon adenocarcinoma(5;0.0828)	5	926	-	T	T			Splice_Site							
SHPRH	257218	broad.mit.edu	GRCh37	6	146269445	146269445	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-0003-01	TCGA-02-0003-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367505.2:c.1024G>A	p.Glu342Lys	p.E342K	ENST00000367505		342	Gag/Aag	0			1			T	E/K	uc003qlf.2	protein_coding		CCDS43513.2			1024/5052									ovary(1)|kidney(1)|central_nervous_system(1)	3	c.(1024-1026)GAG>AAG			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF552,Pfam_domain:PF00176,SMART_domains:SM00487	SNF2 histone linker PHD RING helicase isoform a				ENSP00000275233		30-May									COSM2148892,COSM2148891	30-May	.		ENST00000275233	Transcript			DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	ENSG00000146414	g.chr6:146269445C>T	19336			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=SHPRH_HUMAN&rb=307&re=987&var=E342K	NA	getma.org/?cm=var&var=hg19,6,146269445,C,T&fts=all	E342K	--	--	1																																		SHPRH_uc003qld.2_Missense_Mutation_p.E342K|SHPRH_uc003qle.2_Missense_Mutation_p.E342K|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Missense_Mutation_p.E231K|SHPRH_uc003qlk.1_Missense_Mutation_p.E342K	1,1			possibly_damaging(0.472)	p.E342K	NM_001042683	NP_001036148		tolerated(0.18)	1,1	SHPRH_HUMAN	SHPRH	HGNC	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)			5	1423	-		Ovarian(120;0.0365)	UPI0000458A24	342			Helicase ATP-binding; first part.		SNV	SHPRH,missense_variant,p.Glu342Lys,ENST00000367503,NM_001042683.2;SHPRH,missense_variant,p.Glu342Lys,ENST00000367505,;SHPRH,missense_variant,p.Glu342Lys,ENST00000438092,NM_173082.3;SHPRH,missense_variant,p.Glu342Lys,ENST00000275233,;SHPRH,missense_variant,p.Glu320Lys,ENST00000433355,;SHPRH,missense_variant,p.Glu231Lys,ENST00000519632,;SHPRH,3_prime_UTR_variant,,ENST00000521977,;	uc003qlf.2	c.1024G>A	1423/6649	1	1			c.1024G>A						6	SNP	c.(1024-1026)GAG>AAG	3	3			ovary(1)|kidney(1)|central_nervous_system(1)	3	Broad	SNF2 histone linker PHD RING helicase isoform a			146269445		0.308	ENSG00000146414	14067	g.chr6:146269445C>T	DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding							131.471193	KEEP	26	29	-1	12	7	26	29	-1	135.333753	12	7	0.77193	1	0	0	0	0	1	0	0	0	--	--		0	T			SHPRH_uc003qld.2_Missense_Mutation_p.E342K|SHPRH_uc003qle.2_Missense_Mutation_p.E342K|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Missense_Mutation_p.E231K|SHPRH_uc003qlk.1_Missense_Mutation_p.E342K	1	GBM-02-0003-TP	p.E342K	C	TTCAGACCCTCAGATGTAACA	NM_001042683	NP_001036148	146269445	Q149N8	SHPRH_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	5	1423	-	T	T		Ovarian(120;0.0365)	Missense_Mutation	342			Helicase ATP-binding; first part.			
SHPRH	0	broad.mit.edu	GRCh37	6	146215353	146215353	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-12-3652-01	TCGA-12-3652-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275233.7:c.4628T>C	p.Ile1543Thr	p.I1543T	ENST00000275233		1543	aTt/aCt	0			1			G	I/T	uc003qlf.2	protein_coding		CCDS43513.2			4628/5052									ovary(1)|kidney(1)|central_nervous_system(1)	3	c.(4627-4629)ATT>ACT			PROSITE_profiles:PS51194,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF552,Gene3D:3.40.50.300,SMART_domains:SM00490,Superfamily_domains:SSF52540	SNF2 histone linker PHD RING helicase isoform a				ENSP00000275233		27/30									COSM3410645,COSM3410644	27/30	.		ENST00000275233	Transcript			DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	ENSG00000146414	g.chr6:146215353A>G	19336			MODERATE		1.785	low	getma.org/?cm=msa&ty=f&p=SHPRH_HUMAN&rb=1514&re=1672&var=I1543T	getma.org/pdb.php?prot=SHPRH_HUMAN&from=1514&to=1672&var=I1543T	getma.org/?cm=var&var=hg19,6,146215353,A,G&fts=all	I1543T	--	--	1																																		SHPRH_uc003qld.2_Missense_Mutation_p.I1547T|SHPRH_uc003qle.2_Missense_Mutation_p.I1547T	1,1			possibly_damaging(0.759)	p.I1543T	NM_001042683	NP_001036148		deleterious(0)	1,1	SHPRH_HUMAN	SHPRH	HGNC	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)			27	5027	-		Ovarian(120;0.0365)	UPI0000458A24	1543			Helicase C-terminal.		SNV	SHPRH,missense_variant,p.Ile1547Thr,ENST00000367503,NM_001042683.2;SHPRH,missense_variant,p.Ile1543Thr,ENST00000367505,;SHPRH,missense_variant,p.Ile1547Thr,ENST00000438092,NM_173082.3;SHPRH,missense_variant,p.Ile1543Thr,ENST00000275233,;SHPRH,upstream_gene_variant,,ENST00000417762,;	uc003qlf.2	c.4628T>C	5027/6649	3	3			c.4628T>C						6	SNP	c.(4627-4629)ATT>ACT	63	63			ovary(1)|kidney(1)|central_nervous_system(1)	3	Broad	SNF2 histone linker PHD RING helicase isoform a			146215353		0.313	ENSG00000146414	14067	g.chr6:146215353A>G	DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding							115.66981	KEEP	21	15	-1	22	24	21	15	-1	115.815614	22	24	0.452055	1	0	0	0	0	1	0	0	0	--	--		0	G			SHPRH_uc003qld.2_Missense_Mutation_p.I1547T|SHPRH_uc003qle.2_Missense_Mutation_p.I1547T	127	GBM-12-3652-TP	p.I1543T	A	TTTTGAAATAATATCTAATAC	NM_001042683	NP_001036148	146215353	Q149N8	SHPRH_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	27	5027	-	G	G		Ovarian(120;0.0365)	Missense_Mutation	1543			Helicase C-terminal.			
SHROOM2	0	broad.mit.edu	GRCh37	X	9905429	9905429	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-3476-01	TCGA-14-3476-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380913.3:c.3843C>T	p.Pro1281=	p.P1281=	ENST00000380913	NM_001649.2	1281	ccC/ccT	0			1			T	P	uc004csu.1	protein_coding	YES	CCDS14135.1			3843/4851									ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8	c.(3841-3843)CCC>CCT			hmmpanther:PTHR15012,hmmpanther:PTHR15012:SF8	apical protein of Xenopus-like				ENSP00000370299		10-Jul									COSM3406689	10-Jul	.		ENST00000380913	Transcript			apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	ENSG00000146950	g.chrX:9905429C>T	630			LOW								--	--	1																																		SHROOM2_uc004csv.2_Silent_p.P116P|SHROOM2_uc011mic.1_Silent_p.P116P|SHROOM2_uc004csw.1_Silent_p.P116P	1	1			p.P1281P	NM_001649	NP_001640			1	SHRM2_HUMAN	SHROOM2	HGNC	Q13796	SHRM2_HUMAN			F5H3B6_HUMAN,C9IZC6_HUMAN		7	3933	+		Hepatocellular(5;0.000888)	UPI0000125D05	1281					SNV	SHROOM2,synonymous_variant,p.=,ENST00000380913,NM_001649.2;SHROOM2,synonymous_variant,p.=,ENST00000418909,;SHROOM2,synonymous_variant,p.=,ENST00000452575,;SHROOM2,downstream_gene_variant,,ENST00000493668,;	uc004csu.1	c.3843C>T	3933/7447	2	2			c.3843C>T						23	SNP	c.(3841-3843)CCC>CCT	46	46			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8	Broad	apical protein of Xenopus-like			9905429		0.642	ENSG00000146950	14070	g.chrX:9905429C>T	apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity							4.139074	KEEP	2	0	-1	12	4	2	0	-1	6.336518	12	4	0.125	1	0	0	0	0	0	0	1	0	--	--		0	T			SHROOM2_uc004csv.2_Silent_p.P116P|SHROOM2_uc011mic.1_Silent_p.P116P|SHROOM2_uc004csw.1_Silent_p.P116P	151	GBM-14-3476-TP	p.P1281P	C	CGGCTGAGCCCCAGCCCCTGG	NM_001649	NP_001640	9905429	Q13796	SHRM2_HUMAN	0			7	3933	+	T	T		Hepatocellular(5;0.000888)	Silent	1281						
SHROOM3	57619	broad.mit.edu	GRCh37	4	77661370	77661370	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01	TCGA-06-2562-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296043.6:c.2044C>T	p.Arg682Trp	p.R682W	ENST00000296043	NM_020859.3	682	Cgg/Tgg	0			1			T	R/W	uc011cbx.1	protein_coding	YES	CCDS3579.2			2044/5991									skin(2)|ovary(1)	3	c.(2044-2046)CGG>TGG			hmmpanther:PTHR15012:SF33,hmmpanther:PTHR15012	shroom family member 3 protein				ENSP00000296043		11-May									COSM3409498	11-May	.		ENST00000296043	Transcript	1		apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	ENSG00000138771	g.chr4:77661370C>T	30422			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=SHRM3_HUMAN&rb=122&re=865&var=R682W	NA	getma.org/?cm=var&var=hg19,4,77661370,C,T&fts=all	R682W	--	--	1																																		SHROOM3_uc011cbz.1_Missense_Mutation_p.R506W|SHROOM3_uc003hkf.1_Missense_Mutation_p.R557W|SHROOM3_uc003hkg.2_Missense_Mutation_p.R460W	1	1		possibly_damaging(0.522)	p.R682W	NM_020859	NP_065910		deleterious(0.01)	1	SHRM3_HUMAN	SHROOM3	HGNC	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)				5	2997	+			UPI0000E5AC1C	682					SNV	SHROOM3,missense_variant,p.Arg682Trp,ENST00000296043,NM_020859.3;SHROOM3,intron_variant,,ENST00000469923,;SHROOM3,downstream_gene_variant,,ENST00000473602,;SHROOM3,downstream_gene_variant,,ENST00000481002,;SHROOM3,non_coding_transcript_exon_variant,,ENST00000486758,;	uc011cbx.1	c.2044C>T	2997/11020	2	2			c.2044C>T						4	SNP	c.(2044-2046)CGG>TGG	45	45			skin(2)|ovary(1)	3	Broad	shroom family member 3 protein			77661370		0.607	ENSG00000138771	14071	g.chr4:77661370C>T	apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding							-38.689158	KEEP	4	3	-1	104	116	4	3	-1	10.365281	104	116	0.029703	1	0	0	0	0	1	0	0	0	--	--		0	T			SHROOM3_uc011cbz.1_Missense_Mutation_p.R506W|SHROOM3_uc003hkf.1_Missense_Mutation_p.R557W|SHROOM3_uc003hkg.2_Missense_Mutation_p.R460W	85	GBM-06-2562-TP	p.R682W	C	GGAGCTAGGCCGGGGAACCCA	NM_020859	NP_065910	77661370	Q8TF72	SHRM3_HUMAN	0	Lung(101;0.0903)		5	2997	+	T	T			Missense_Mutation	682						
SHROOM3	0	broad.mit.edu	GRCh37	4	77661454	77661454	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296043.6:c.2128C>A	p.Pro710Thr	p.P710T	ENST00000296043	NM_020859.3	710	Cct/Act	0			1			A	P/T	uc011cbx.1	protein_coding	YES	CCDS3579.2			2128/5991									skin(2)|ovary(1)	3	c.(2128-2130)CCT>ACT			hmmpanther:PTHR15012:SF33,hmmpanther:PTHR15012	shroom family member 3 protein				ENSP00000296043		11-May									COSM3409499	11-May	.		ENST00000296043	Transcript	1		apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	ENSG00000138771	g.chr4:77661454C>A	30422			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=SHRM3_HUMAN&rb=122&re=865&var=P710T	NA	getma.org/?cm=var&var=hg19,4,77661454,C,A&fts=all	P710T	--	--	1																																		SHROOM3_uc011cbz.1_Missense_Mutation_p.P534T|SHROOM3_uc003hkf.1_Missense_Mutation_p.P585T|SHROOM3_uc003hkg.2_Missense_Mutation_p.P488T	1	1		benign(0.058)	p.P710T	NM_020859	NP_065910		tolerated(0.33)	1	SHRM3_HUMAN	SHROOM3	HGNC	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)				5	3081	+			UPI0000E5AC1C	710					SNV	SHROOM3,missense_variant,p.Pro710Thr,ENST00000296043,NM_020859.3;SHROOM3,intron_variant,,ENST00000469923,;SHROOM3,downstream_gene_variant,,ENST00000473602,;SHROOM3,downstream_gene_variant,,ENST00000481002,;SHROOM3,non_coding_transcript_exon_variant,,ENST00000486758,;	uc011cbx.1	c.2128C>A	3081/11020	1	1			c.2128C>A						4	SNP	c.(2128-2130)CCT>ACT	51	51			skin(2)|ovary(1)	3	Broad	shroom family member 3 protein			77661454		0.667	ENSG00000138771	14071	g.chr4:77661454C>A	apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding							136.140296	KEEP	44	46	0.511111111	113	128	44	46	0.511111111	149.321784	113	128	0.254167	1	0	0	0	0	1	0	0	0	--	--		0	A			SHROOM3_uc011cbz.1_Missense_Mutation_p.P534T|SHROOM3_uc003hkf.1_Missense_Mutation_p.P585T|SHROOM3_uc003hkg.2_Missense_Mutation_p.P488T	229	GBM-32-1977-TP	p.P710T	C	GAAAGCCGCTCCTGACCTCGG	NM_020859	NP_065910	77661454	Q8TF72	SHRM3_HUMAN	0	Lung(101;0.0903)		5	3081	+	A	A			Missense_Mutation	710						
SHROOM3	57619		GRCh37	4	77661478	77661478	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000296043.6:c.2152C>T	p.Arg718Trp	p.R718W	ENST00000296043	NM_020859.3	718	Cgg/Tgg	0																																																																																																																																																																																																																																												
SHROOM3	57619		GRCh37	4	77660381	77660381	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000296043.6:c.1055G>A	p.Arg352Gln	p.R352Q	ENST00000296043	NM_020859.3	352	cGg/cAg	0																																																																																																																																																																																																																																												
SHROOM4	0	broad.mit.edu	GRCh37	X	50377938	50377938	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01	TCGA-19-5951-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000289292.7:c.1135G>A	p.Val379Met	p.V379M	ENST00000289292		379	Gtg/Atg	0	T:0		1			T	V/M	uc004dpe.2	protein_coding		CCDS35277.1			1135/4482									upper_aerodigestive_tract(1)	1	c.(1135-1137)GTG>ATG			hmmpanther:PTHR15012:SF31,hmmpanther:PTHR15012	shroom family member 4			T:0.0001	ENSP00000289292		10-Apr	9.89E-05				0.000288	7.89E-05		0.000123	rs376491533,COSM2156669	10-Apr	.		ENST00000289292	Transcript	1		actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	ENSG00000158352	g.chrX:50377938C>T	29215			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=SHRM4_HUMAN&rb=290&re=713&var=V379M	NA	getma.org/?cm=var&var=hg19,X,50377938,C,T&fts=all	V379M	--	--	1																																		SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.V263M	0,1			benign(0.003)	p.V379M	NM_020717	NP_065768		tolerated(0.31)	0,1	SHRM4_HUMAN	SHROOM4	HGNC	Q9ULL8	SHRM4_HUMAN					4	1161	-	Ovarian(276;0.236)		UPI00001C2068	379					SNV	SHROOM4,missense_variant,p.Val379Met,ENST00000376020,NM_020717.3;SHROOM4,missense_variant,p.Val263Met,ENST00000460112,;SHROOM4,missense_variant,p.Val379Met,ENST00000289292,;	uc004dpe.2	c.1135G>A	1419/6261	2	2			c.1135G>A						23	SNP	c.(1135-1137)GTG>ATG	32	32			upper_aerodigestive_tract(1)	1	Broad	shroom family member 4			50377938		0.542	ENSG00000158352	14072	g.chrX:50377938C>T	actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding							46.524336	KEEP	9	6	-1	11	9	9	6	-1	46.626048	11	9	0.441176	1	0	0	0	0	1	0	0	0	--	--		0	T			SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.V263M	171	GBM-19-5951-TP	p.V379M	C	TTGGAATCCACGCTGGAAGCT	NM_020717	NP_065768	50377938	Q9ULL8	SHRM4_HUMAN	0			4	1161	-	T	T	Ovarian(276;0.236)		Missense_Mutation	379						
SI	6476	broad.mit.edu	GRCh37	3	164786544	164786544	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-5410-01	TCGA-06-5410-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264382.3:c.449C>A	p.Thr150Asn	p.T150N	ENST00000264382	NM_001041.3	150	aCt/aAt	0			1			T	T/N	uc003fei.2	protein_coding	YES	CCDS3196.1			449/5484									ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14	c.(448-450)ACT>AAT			Superfamily_domains:SSF74650,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF66	sucrase-isomaltase	Acarbose(DB00284)			ENSP00000264382		May-48									COSM3408397	May-48	.		ENST00000264382	Transcript	1		carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	ENSG00000090402	g.chr3:164786544G>T	10856			MODERATE		2.615	medium	getma.org/?cm=msa&ty=f&p=SUIS_HUMAN&rb=110&re=309&var=T150N	getma.org/pdb.php?prot=SUIS_HUMAN&from=110&to=309&var=T150N	getma.org/?cm=var&var=hg19,3,164786544,G,T&fts=all	T150N	--	--	1				HNSCC(35;0.089)																															1	1		benign(0.306)	p.T150N	NM_001041	NP_001032		deleterious(0.03)	1	SUIS_HUMAN	SI	HGNC	P14410	SUIS_HUMAN					5	511	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	UPI000022C287	150			Lumenal.|Isomaltase.		SNV	SI,missense_variant,p.Thr150Asn,ENST00000264382,NM_001041.3;SI,3_prime_UTR_variant,,ENST00000476593,;	uc003fei.2	c.449C>A	512/6011	1	1			c.449C>A						3	SNP	c.(448-450)ACT>AAT	14	14			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14	Broad	sucrase-isomaltase		Acarbose(DB00284)	164786544		0.323	ENSG00000090402	14073	g.chr3:164786544G>T	carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity							-25.657074	KEEP	2	8	0.2	99	118	2	8	0.2	16.840782	99	118	0.042328	1	0	0	0	0	1	0	0	0	--	--	HNSCC(35;0.089)	0	T				93	GBM-06-5410-TP	p.T150N	G	CTGATTTTGAGTTGTGAAGAG	NM_001041	NP_001032	164786544	P14410	SUIS_HUMAN	0			5	511	-	T	T		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	Missense_Mutation	150			Lumenal.|Isomaltase.			
SIAH3	0	broad.mit.edu	GRCh37	13	46358034	46358034	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-1829-01	TCGA-14-1829-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400405.2:c.294C>T	p.His98=	p.H98=	ENST00000400405	NM_198849.2	98	caC/caT	0			1			A	H	uc001vap.2	protein_coding	YES	CCDS41883.1			294/810									ovary(1)|skin(1)	2	c.(292-294)CAC>CAT			Pfam_domain:PF03145,hmmpanther:PTHR10315,hmmpanther:PTHR10315:SF21,Superfamily_domains:SSF49599	seven in absentia homolog 3				ENSP00000383256		2-Feb	8.25E-06							6.53E-05	rs773723798,COSM3399380	2-Feb	.		ENST00000400405	Transcript			multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding	ENSG00000215475	g.chr13:46358034G>A	30553			LOW								--	--	1																																			0,1	1			p.H98H	NM_198849	NP_942146			0,1	SIAH3_HUMAN	SIAH3	HGNC	Q8IW03	SIAH3_HUMAN					2	376	-			UPI00001C1F5A	98			SIAH-type; degenerate.|His-rich.		SNV	SIAH3,synonymous_variant,p.=,ENST00000400405,NM_198849.2;	uc001vap.2	c.294C>T	401/4030	1	1			c.294C>T						13	SNP	c.(292-294)CAC>CAT	64	64			ovary(1)|skin(1)	2	Broad	seven in absentia homolog 3			46358034		0.428	ENSG00000215475	14077	g.chr13:46358034G>A	multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding							56.336786	KEEP	13	13	-1	31	33	13	13	-1	59.861311	31	33	0.280488	1	0	0	0	0	0	0	1	0	--	--		0	A				149	GBM-14-1829-TP	p.H98H	G	CCGGGTTGGCGTGCAGCCCCG	NM_198849	NP_942146	46358034	Q8IW03	SIAH3_HUMAN	0			2	376	-	A	A			Silent	98			SIAH-type; degenerate.|His-rich.			
SIGIRR	59307		GRCh37	11	408155	408155	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000431843.2:c.258C>T	p.Asn86=	p.N86=	ENST00000431843	NM_001135054.1	86	aaC/aaT	0																																																																																																																																																																																																																																												
SIGLEC1	6614		GRCh37	20	3682241	3682241	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000344754.4:c.1276G>A	p.Gly426Arg	p.G426R	ENST00000344754	NM_023068.3	426	Gga/Aga	0																																																																																																																																																																																																																																												
SIGLEC10	89790	broad.mit.edu	GRCh37	19	51919569	51919569	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01	TCGA-06-5415-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356298.5:c.749C>T	p.Thr250Met	p.T250M	ENST00000356298	NM_033130.4	250	aCg/aTg	0		A:0.0008	1	A:0		A	T/M	uc002pwo.2	protein_coding		CCDS12832.1			749/2094									skin(1)	1	c.(748-750)ACG>ATG			hmmpanther:PTHR12035:SF13,hmmpanther:PTHR12035	sialic acid binding Ig-like lectin 10 precursor		A:0		ENSP00000345243	A:0	11-Apr	3.29E-05	9.61E-05				4.50E-05			rs200888407,COSM1581740,COSM1581741	11-Apr	.		ENST00000339313	Transcript		A:0.0002	cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	ENSG00000142512	g.chr19:51919569G>A	15620			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=SIG10_HUMAN&rb=197&re=280&var=T250M	getma.org/pdb.php?prot=SIG10_HUMAN&from=227&to=250&var=T250M	getma.org/?cm=var&var=hg19,19,51919569,G,A&fts=all	T250M	--	--	1																																		SIGLEC10_uc002pwp.2_Missense_Mutation_p.T192M|SIGLEC10_uc002pwq.2_Missense_Mutation_p.T192M|SIGLEC10_uc002pwr.2_Missense_Mutation_p.T250M|SIGLEC10_uc010ycy.1_Missense_Mutation_p.T250M|SIGLEC10_uc010ycz.1_Missense_Mutation_p.T202M|SIGLEC10_uc010eow.2_Missense_Mutation_p.R15C|SIGLEC10_uc002pws.1_Missense_Mutation_p.T176M	0,1,1			benign(0.012)	p.T250M	NM_033130	NP_149121	A:0	tolerated(0.13)	0,1,1	SIG10_HUMAN	SIGLEC10	HGNC	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)			4	1365	-		all_neural(266;0.0199)	UPI0000047E1A	250			Extracellular (Potential).		SNV	SIGLEC10,missense_variant,p.Thr250Met,ENST00000353836,NM_001171157.1,NM_001171159.1,NM_001171158.1;SIGLEC10,missense_variant,p.Thr250Met,ENST00000356298,NM_033130.4;SIGLEC10,missense_variant,p.Thr167Met,ENST00000432469,;SIGLEC10,missense_variant,p.Thr192Met,ENST00000441969,;SIGLEC10,missense_variant,p.Thr192Met,ENST00000442846,NM_001171161.1;SIGLEC10,missense_variant,p.Thr250Met,ENST00000339313,;SIGLEC10,missense_variant,p.Thr192Met,ENST00000439889,NM_001171156.1;SIGLEC10,missense_variant,p.Thr250Met,ENST00000525998,;SIGLEC10,missense_variant,p.Thr202Met,ENST00000436984,;SIGLEC10,missense_variant,p.Thr64Met,ENST00000529627,;SIGLEC10,downstream_gene_variant,,ENST00000530476,;CTD-2616J11.2,intron_variant,,ENST00000532688,;CTD-2616J11.2,intron_variant,,ENST00000526996,;CTD-2616J11.3,downstream_gene_variant,,ENST00000532473,;SIGLEC10,non_coding_transcript_exon_variant,,ENST00000357375,;SIGLEC10,downstream_gene_variant,,ENST00000524527,;	uc002pwo.2	c.749C>T	866/2256	2	2			c.749C>T						19	SNP	c.(748-750)ACG>ATG	19	19			skin(1)	1	Broad	sialic acid binding Ig-like lectin 10 precursor			51919569		0.483	ENSG00000142512	14082	g.chr19:51919569G>A	cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding							277.506075	KEEP	44	74	-1	82	88	44	74	-1	279.939935	82	88	0.392562	1	0	0	0	0	1	0	0	0	--	--		0	A			SIGLEC10_uc002pwp.2_Missense_Mutation_p.T192M|SIGLEC10_uc002pwq.2_Missense_Mutation_p.T192M|SIGLEC10_uc002pwr.2_Missense_Mutation_p.T250M|SIGLEC10_uc010ycy.1_Missense_Mutation_p.T250M|SIGLEC10_uc010ycz.1_Missense_Mutation_p.T202M|SIGLEC10_uc010eow.2_Missense_Mutation_p.R15C|SIGLEC10_uc002pws.1_Missense_Mutation_p.T176M	98	GBM-06-5415-TP	p.T250M	G	AGTACCTGGCGTGTTGTCACG	NM_033130	NP_149121	51919569	Q96LC7	SIG10_HUMAN	0		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	4	1365	-	A	A		all_neural(266;0.0199)	Missense_Mutation	250			Extracellular (Potential).			
SIGLEC10	89790		GRCh37	19	51919569	51919569	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000356298.5:c.749C>T	p.Thr250Met	p.T250M	ENST00000356298	NM_033130.4	250	aCg/aTg	0																																																																																																																																																																																																																																												
SIGLEC11	114132	broad.mit.edu	GRCh37	19	50453362	50453362	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-0155-01	TCGA-06-0155-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000447370.2:c.1962C>A	p.Leu654=	p.L654=	ENST00000447370	NM_052884.2	654	ctC/ctA	0			1			T	L	uc010ybh.1	protein_coding	YES	CCDS12790.2			1962/2097									ovary(3)|central_nervous_system(2)|pancreas(1)	6	c.(1960-1962)CTC>CTA			hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF44	sialic acid binding Ig-like lectin 11 isoform 1				ENSP00000412361		11-Nov									COSM2149977	11-Nov	.		ENST00000447370	Transcript			cell adhesion	integral to membrane	sugar binding	ENSG00000161640	g.chr19:50453362G>T	15622			LOW								--	--	1																																		SIGLEC11_uc010ybi.1_Silent_p.L558L	1	1			p.L654L	NM_052884	NP_443116			1	SIG11_HUMAN	SIGLEC11	HGNC	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	H7BZU6_HUMAN		11	2053	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	UPI00018131F5	654			Cytoplasmic (Potential).		SNV	SIGLEC11,synonymous_variant,p.=,ENST00000447370,NM_052884.2;SIGLEC11,synonymous_variant,p.=,ENST00000426971,NM_001135163.1;U3,upstream_gene_variant,,ENST00000408198,;SIGLEC11,3_prime_UTR_variant,,ENST00000426296,;CTC-326K19.6,intron_variant,,ENST00000451973,;	uc010ybh.1	c.1962C>A	2053/3173	2	2			c.1962C>A						19	SNP	c.(1960-1962)CTC>CTA	26	26			ovary(3)|central_nervous_system(2)|pancreas(1)	6	Broad	sialic acid binding Ig-like lectin 11 isoform 1			50453362		0.662	ENSG00000161640	14083	g.chr19:50453362G>T	cell adhesion	integral to membrane	sugar binding							59.227973	KEEP	17	20	0.459459459	36	48	17	20	0.459459459	63.392973	36	48	0.274725	1	0	0	0	0	0	0	1	0	--	--		0	T			SIGLEC11_uc010ybi.1_Silent_p.L558L	27	GBM-06-0155-TP	p.L654L	G	CAGGCTCCCAGAGCCTCAGGC	NM_052884	NP_443116	50453362	Q96RL6	SIG11_HUMAN	0		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	11	2053	-	T	T		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	Silent	654			Cytoplasmic (Potential).			
SIGLEC11	114132	broad.mit.edu	GRCh37	19	50461997	50461997	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0190-01	TCGA-06-0190-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000447370.2:c.1266G>A	p.Glu422=	p.E422=	ENST00000447370	NM_052884.2	422	gaG/gaA	0			1			T	E	uc010ybh.1	protein_coding	YES	CCDS12790.2			1266/2097									ovary(3)|central_nervous_system(2)|pancreas(1)	6	c.(1264-1266)GAG>GAA			PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF44,Pfam_domain:PF00047,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	sialic acid binding Ig-like lectin 11 isoform 1				ENSP00000412361		11-Jul									COSM3404471	11-Jul	.		ENST00000447370	Transcript			cell adhesion	integral to membrane	sugar binding	ENSG00000161640	g.chr19:50461997C>T	15622			LOW								--	--	1																																		SIGLEC11_uc010ybi.1_Silent_p.E422E	1	1			p.E422E	NM_052884	NP_443116			1	SIG11_HUMAN	SIGLEC11	HGNC	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	H7BZU6_HUMAN		7	1357	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	UPI00018131F5	422			Ig-like C2-type 3.|Extracellular (Potential).		SNV	SIGLEC11,synonymous_variant,p.=,ENST00000447370,NM_052884.2;SIGLEC11,synonymous_variant,p.=,ENST00000426971,NM_001135163.1;SIGLEC11,upstream_gene_variant,,ENST00000426296,;CTC-326K19.6,upstream_gene_variant,,ENST00000451973,;	uc010ybh.1	c.1266G>A	1357/3173	1	1			c.1266G>A						19	SNP	c.(1264-1266)GAG>GAA	4	4			ovary(3)|central_nervous_system(2)|pancreas(1)	6	Broad	sialic acid binding Ig-like lectin 11 isoform 1			50461997		0.667	ENSG00000161640	14083	g.chr19:50461997C>T	cell adhesion	integral to membrane	sugar binding							48.414809	KEEP	13	12	-1	56	70	13	12	-1	62.921151	56	70	0.170213	1	0	0	0	0	0	0	1	0	--	--		0	T			SIGLEC11_uc010ybi.1_Silent_p.E422E	43	GBM-06-0190-TP	p.E422E	C	TGGGTGGCAGCTCCAGGACCC	NM_052884	NP_443116	50461997	Q96RL6	SIG11_HUMAN	0		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	7	1357	-	T	T		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	Silent	422			Ig-like C2-type 3.|Extracellular (Potential).			
SIGLEC11	114132	broad.mit.edu	GRCh37	19	50461706	50461706	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0221-01	TCGA-06-0221-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000447370.2:c.1485G>T	p.Glu495Asp	p.E495D	ENST00000447370	NM_052884.2	495	gaG/gaT	0			1			A	E/D	uc010ybh.1	protein_coding	YES	CCDS12790.2			1485/2097									ovary(3)|central_nervous_system(2)|pancreas(1)	6	c.(1483-1485)GAG>GAT			Low_complexity_(Seg):seg,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF44,Superfamily_domains:SSF48726	sialic acid binding Ig-like lectin 11 isoform 1				ENSP00000412361		11-Aug									COSM2151000	11-Aug	.		ENST00000447370	Transcript			cell adhesion	integral to membrane	sugar binding	ENSG00000161640	g.chr19:50461706C>A	15622			MODERATE		1.765	low	getma.org/?cm=msa&ty=f&p=SIG11_HUMAN&rb=462&re=548&var=E495D	NA	getma.org/?cm=var&var=hg19,19,50461706,C,A&fts=all	E495D	--	--	1																																		SIGLEC11_uc010ybi.1_Intron	1	1		possibly_damaging(0.737)	p.E495D	NM_052884	NP_443116		tolerated(0.07)	1	SIG11_HUMAN	SIGLEC11	HGNC	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	H7BZU6_HUMAN		8	1576	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	UPI00018131F5	495			Extracellular (Potential).		SNV	SIGLEC11,missense_variant,p.Glu495Asp,ENST00000447370,NM_052884.2;SIGLEC11,intron_variant,,ENST00000426971,NM_001135163.1;SIGLEC11,missense_variant,p.Glu4Asp,ENST00000426296,;CTC-326K19.6,upstream_gene_variant,,ENST00000451973,;	uc010ybh.1	c.1485G>T	1576/3173	2	2			c.1485G>T						19	SNP	c.(1483-1485)GAG>GAT	29	29			ovary(3)|central_nervous_system(2)|pancreas(1)	6	Broad	sialic acid binding Ig-like lectin 11 isoform 1			50461706		0.701	ENSG00000161640	14083	g.chr19:50461706C>A	cell adhesion	integral to membrane	sugar binding							18.017514	KEEP	5	5	0.5	7	10	5	5	0.5	18.53437	7	10	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	A			SIGLEC11_uc010ybi.1_Intron	53	GBM-06-0221-TP	p.E495D	C	TGCTGTTCCCCTCCAGCAGCT	NM_052884	NP_443116	50461706	Q96RL6	SIG11_HUMAN	0		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	8	1576	-	A	A		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	Missense_Mutation	495			Extracellular (Potential).			
SIGLEC11	0	broad.mit.edu	GRCh37	19	50462137	50462137	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs142292396	byFrequency	TCGA-27-2519-01	TCGA-27-2519-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000447370.2:c.1126G>T	p.Gly376Cys	p.G376C	ENST00000447370	NM_052884.2	376	Ggc/Tgc	0			1			A	G/C	uc010ybh.1	protein_coding	YES	CCDS12790.2			1126/2097									ovary(3)|central_nervous_system(2)|pancreas(1)	6	c.(1126-1128)GGC>TGC			PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF44,SMART_domains:SM00409	sialic acid binding Ig-like lectin 11 isoform 1				ENSP00000412361		11-Jul									COSM2753824	11-Jul	.		ENST00000447370	Transcript			cell adhesion	integral to membrane	sugar binding	ENSG00000161640	g.chr19:50462137C>A	15622			MODERATE		2.82	medium	getma.org/?cm=msa&ty=f&p=SIG11_HUMAN&rb=355&re=452&var=G376C	NA	getma.org/?cm=var&var=hg19,19,50462137,C,A&fts=all	G376C	--	--	1																																		SIGLEC11_uc010ybi.1_Missense_Mutation_p.G376C	1	1		possibly_damaging(0.582)	p.G376C	NM_052884	NP_443116		deleterious(0.04)	1	SIG11_HUMAN	SIGLEC11	HGNC	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	H7BZU6_HUMAN		7	1217	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	UPI00018131F5	376			Ig-like C2-type 3.|Extracellular (Potential).		SNV	SIGLEC11,missense_variant,p.Gly376Cys,ENST00000447370,NM_052884.2;SIGLEC11,missense_variant,p.Gly376Cys,ENST00000426971,NM_001135163.1;SIGLEC11,upstream_gene_variant,,ENST00000426296,;CTC-326K19.6,upstream_gene_variant,,ENST00000451973,;	uc010ybh.1	c.1126G>T	1217/3173	1	1			c.1126G>T						19	SNP	c.(1126-1128)GGC>TGC	55	55			ovary(3)|central_nervous_system(2)|pancreas(1)	6	Broad	sialic acid binding Ig-like lectin 11 isoform 1			50462137		0.662	ENSG00000161640	14083	g.chr19:50462137C>A	cell adhesion	integral to membrane	sugar binding							4.902376	KEEP	2	4	0.666666667	36	26	2	4	0.666666667	15.260513	36	26	0.095238	1	0	0	0	0	1	0	0	0	--	--		0	A			SIGLEC11_uc010ybi.1_Missense_Mutation_p.G376C	199	GBM-27-2519-TP	p.G376C	C	AGGGATGTGCCGTTCCCGAGG	NM_052884	NP_443116	50462137	Q96RL6	SIG11_HUMAN	0		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	7	1217	-	A	A		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	Missense_Mutation	376			Ig-like C2-type 3.|Extracellular (Potential).			
SIGLEC12	89858		GRCh37	19	52004890	52004890	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000291707.3:c.98C>T	p.Thr33Met	p.T33M	ENST00000291707	NM_053003.2	33	aCg/aTg	0																																																																																																																																																																																																																																												
SIGLEC14	100049587		GRCh37	19	52149127	52149127	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000360844.6:c.608G>A	p.Arg203Lys	p.R203K	ENST00000360844	NM_001098612.1	203	aGg/aAg	0																																																																																																																																																																																																																																												
SIGLEC6	946	broad.mit.edu	GRCh37	19	52033694	52033694	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0129-01	TCGA-06-0129-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000425629.3:c.751G>A	p.Ala251Thr	p.A251T	ENST00000425629	NM_001245.5	251	Gca/Aca	0	T:0		1			T	A/T	uc002pwy.2	protein_coding	YES	CCDS12834.3			751/1362									ovary(1)	1	c.(751-753)GCA>ACA			PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF41	sialic acid binding Ig-like lectin 6 isoform 1			T:0.0005	ENSP00000401502		8-Apr	0.000149		8.65E-05	0.00104		0.00012			rs201148057,COSM192509	8-Apr	common_variant		ENST00000425629	Transcript			cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		ENSG00000105492	g.chr19:52033694C>T	10875			MODERATE		-2.145	neutral	getma.org/?cm=msa&ty=f&p=SIGL6_HUMAN&rb=238&re=333&var=A251T	NA	getma.org/?cm=var&var=hg19,19,52033694,C,T&fts=all	A251T	--	--	1																																		SIGLEC6_uc002pwz.2_Intron|SIGLEC6_uc002pxa.2_Missense_Mutation_p.A251T|SIGLEC6_uc010ydb.1_Intron|SIGLEC6_uc010ydc.1_Missense_Mutation_p.A251T|SIGLEC6_uc010eoz.1_Missense_Mutation_p.A229T|SIGLEC6_uc010epb.1_Missense_Mutation_p.A204T|SIGLEC6_uc010epa.1_Missense_Mutation_p.A240T	0,1	1		benign(0)	p.A251T	NM_001245	NP_001236		tolerated(1)	0,1	SIGL6_HUMAN	SIGLEC6	HGNC	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)			4	913	-		all_neural(266;0.0199)	UPI0000223FFD	251			Ig-like C2-type 2.|Extracellular (Potential).		SNV	SIGLEC6,missense_variant,p.Ala251Thr,ENST00000425629,NM_001245.5;SIGLEC6,missense_variant,p.Ala262Thr,ENST00000359982,NM_001177548.1;SIGLEC6,missense_variant,p.Ala251Thr,ENST00000343300,NM_001177549.1,NM_198846.4;SIGLEC6,missense_variant,p.Ala240Thr,ENST00000391797,;SIGLEC6,intron_variant,,ENST00000346477,NM_198845.4;SIGLEC6,intron_variant,,ENST00000436458,NM_001177547.1;SIGLEC6,upstream_gene_variant,,ENST00000474054,;SIGLEC6,non_coding_transcript_exon_variant,,ENST00000496422,;SIGLEC6,non_coding_transcript_exon_variant,,ENST00000489837,;	uc002pwy.2	c.751G>A	906/1852	2	2			c.751G>A						19	SNP	c.(751-753)GCA>ACA	42	42			ovary(1)	1	Broad	sialic acid binding Ig-like lectin 6 isoform 1			52033694		0.562	ENSG00000105492	14088	g.chr19:52033694C>T	cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus								19.581469	KEEP	3	8	-1	15	20	3	8	-1	22.136402	15	20	0.222222	1	0	0	0	0	1	0	0	0	--	--		0	T			SIGLEC6_uc002pwz.2_Intron|SIGLEC6_uc002pxa.2_Missense_Mutation_p.A251T|SIGLEC6_uc010ydb.1_Intron|SIGLEC6_uc010ydc.1_Missense_Mutation_p.A251T|SIGLEC6_uc010eoz.1_Missense_Mutation_p.A229T|SIGLEC6_uc010epb.1_Missense_Mutation_p.A204T|SIGLEC6_uc010epa.1_Missense_Mutation_p.A240T	15	GBM-06-0129-TP	p.A251T	C	TTCCTACCTGCGCTGTTTCCT	NM_001245	NP_001236	52033694	O43699	SIGL6_HUMAN	0		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	4	913	-	T	T		all_neural(266;0.0199)	Missense_Mutation	251			Ig-like C2-type 2.|Extracellular (Potential).			
SIGLEC6	946	broad.mit.edu	GRCh37	19	52034117	52034117	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000425629.3:c.524G>A	p.Gly175Glu	p.G175E	ENST00000425629	NM_001245.5	175	gGg/gAg	0			1			T	G/E	uc002pwy.2	protein_coding	YES	CCDS12834.3			524/1362									ovary(1)	1	c.(523-525)GGG>GAG			Gene3D:2.60.40.10,Pfam_domain:PF00047,PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF41,SMART_domains:SM00409,Superfamily_domains:SSF48726	sialic acid binding Ig-like lectin 6 isoform 1				ENSP00000401502		8-Mar									COSM3404509,COSM3404508	8-Mar	.		ENST00000425629	Transcript			cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		ENSG00000105492	g.chr19:52034117C>T	10875			MODERATE		2.725	medium	getma.org/?cm=msa&ty=f&p=SIGL6_HUMAN&rb=159&re=217&var=G175E	getma.org/pdb.php?prot=SIGL6_HUMAN&from=159&to=217&var=G175E	getma.org/?cm=var&var=hg19,19,52034117,C,T&fts=all	G175E	--	--	1																																		SIGLEC6_uc002pwz.2_Missense_Mutation_p.G175E|SIGLEC6_uc002pxa.2_Missense_Mutation_p.G175E|SIGLEC6_uc010ydb.1_Missense_Mutation_p.G128E|SIGLEC6_uc010ydc.1_Missense_Mutation_p.G164E|SIGLEC6_uc010eoz.1_Missense_Mutation_p.G153E|SIGLEC6_uc010epb.1_Missense_Mutation_p.G128E|SIGLEC6_uc010epa.1_Missense_Mutation_p.G164E	1,1	1		probably_damaging(0.994)	p.G175E	NM_001245	NP_001236		deleterious(0.02)	1,1	SIGL6_HUMAN	SIGLEC6	HGNC	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)			3	686	-		all_neural(266;0.0199)	UPI0000223FFD	175			Ig-like C2-type 1.|Extracellular (Potential).		SNV	SIGLEC6,missense_variant,p.Gly175Glu,ENST00000346477,NM_198845.4;SIGLEC6,missense_variant,p.Gly175Glu,ENST00000425629,NM_001245.5;SIGLEC6,missense_variant,p.Gly175Glu,ENST00000359982,NM_001177548.1;SIGLEC6,missense_variant,p.Gly175Glu,ENST00000343300,NM_001177549.1,NM_198846.4;SIGLEC6,missense_variant,p.Gly139Glu,ENST00000436458,NM_001177547.1;SIGLEC6,missense_variant,p.Gly164Glu,ENST00000391797,;SIGLEC6,upstream_gene_variant,,ENST00000474054,;SIGLEC6,non_coding_transcript_exon_variant,,ENST00000496422,;SIGLEC6,non_coding_transcript_exon_variant,,ENST00000489837,;	uc002pwy.2	c.524G>A	679/1852	2	2			c.524G>A						19	SNP	c.(523-525)GGG>GAG	28	28			ovary(1)	1	Broad	sialic acid binding Ig-like lectin 6 isoform 1			52034117		0.667	ENSG00000105492	14088	g.chr19:52034117C>T	cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus								-31.186254	KEEP	4	1	-1	81	103	4	1	-1	9.527942	81	103	0.029762	1	0	0	0	0	1	0	0	0	--	--		0	T			SIGLEC6_uc002pwz.2_Missense_Mutation_p.G175E|SIGLEC6_uc002pxa.2_Missense_Mutation_p.G175E|SIGLEC6_uc010ydb.1_Missense_Mutation_p.G128E|SIGLEC6_uc010ydc.1_Missense_Mutation_p.G164E|SIGLEC6_uc010eoz.1_Missense_Mutation_p.G153E|SIGLEC6_uc010epb.1_Missense_Mutation_p.G128E|SIGLEC6_uc010epa.1_Missense_Mutation_p.G164E	102	GBM-06-5858-TP	p.G175E	C	GGGGGGCGTCCCCTGCTCACA	NM_001245	NP_001236	52034117	O43699	SIGL6_HUMAN	0		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	3	686	-	T	T		all_neural(266;0.0199)	Missense_Mutation	175			Ig-like C2-type 1.|Extracellular (Potential).			
SIGLEC6	0	broad.mit.edu	GRCh37	19	52034114	52034114	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000425629.3:c.527C>T	p.Thr176Met	p.T176M	ENST00000425629	NM_001245.5	176	aCg/aTg	0			1			A	T/M	uc002pwy.2	protein_coding	YES	CCDS12834.3			527/1362									ovary(1)	1	c.(526-528)ACG>ATG			Gene3D:2.60.40.10,Pfam_domain:PF00047,PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF41,SMART_domains:SM00409,Superfamily_domains:SSF48726	sialic acid binding Ig-like lectin 6 isoform 1				ENSP00000401502		8-Mar	6.59E-05	9.64E-05		0.000116		9.00E-05			rs780557269,COSM3404507,COSM3404506	8-Mar	.		ENST00000425629	Transcript			cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		ENSG00000105492	g.chr19:52034114G>A	10875			MODERATE		2.08	medium	getma.org/?cm=msa&ty=f&p=SIGL6_HUMAN&rb=159&re=217&var=T176M	getma.org/pdb.php?prot=SIGL6_HUMAN&from=159&to=217&var=T176M	getma.org/?cm=var&var=hg19,19,52034114,G,A&fts=all	T176M	--	--	1																																		SIGLEC6_uc002pwz.2_Missense_Mutation_p.T176M|SIGLEC6_uc002pxa.2_Missense_Mutation_p.T176M|SIGLEC6_uc010ydb.1_Missense_Mutation_p.T129M|SIGLEC6_uc010ydc.1_Missense_Mutation_p.T165M|SIGLEC6_uc010eoz.1_Missense_Mutation_p.T154M|SIGLEC6_uc010epb.1_Missense_Mutation_p.T129M|SIGLEC6_uc010epa.1_Missense_Mutation_p.T165M	0,1,1	1		probably_damaging(0.978)	p.T176M	NM_001245	NP_001236		tolerated(0.07)	0,1,1	SIGL6_HUMAN	SIGLEC6	HGNC	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)			3	689	-		all_neural(266;0.0199)	UPI0000223FFD	176			Ig-like C2-type 1.|Extracellular (Potential).		SNV	SIGLEC6,missense_variant,p.Thr176Met,ENST00000346477,NM_198845.4;SIGLEC6,missense_variant,p.Thr176Met,ENST00000425629,NM_001245.5;SIGLEC6,missense_variant,p.Thr176Met,ENST00000359982,NM_001177548.1;SIGLEC6,missense_variant,p.Thr176Met,ENST00000343300,NM_001177549.1,NM_198846.4;SIGLEC6,missense_variant,p.Thr140Met,ENST00000436458,NM_001177547.1;SIGLEC6,missense_variant,p.Thr165Met,ENST00000391797,;SIGLEC6,upstream_gene_variant,,ENST00000474054,;SIGLEC6,non_coding_transcript_exon_variant,,ENST00000496422,;SIGLEC6,non_coding_transcript_exon_variant,,ENST00000489837,;	uc002pwy.2	c.527C>T	682/1852	1	1			c.527C>T						19	SNP	c.(526-528)ACG>ATG	59	59			ovary(1)	1	Broad	sialic acid binding Ig-like lectin 6 isoform 1			52034114		0.667	ENSG00000105492	14088	g.chr19:52034114G>A	cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus								190.00368	KEEP	54	32	-1	110	116	54	32	-1	203.463793	110	116	0.268817	1	0	0	0	0	1	0	0	0	--	--		0	A			SIGLEC6_uc002pwz.2_Missense_Mutation_p.T176M|SIGLEC6_uc002pxa.2_Missense_Mutation_p.T176M|SIGLEC6_uc010ydb.1_Missense_Mutation_p.T129M|SIGLEC6_uc010ydc.1_Missense_Mutation_p.T165M|SIGLEC6_uc010eoz.1_Missense_Mutation_p.T154M|SIGLEC6_uc010epb.1_Missense_Mutation_p.T129M|SIGLEC6_uc010epa.1_Missense_Mutation_p.T165M	249	GBM-32-5222-TP	p.T176M	G	GATGGGGGGCGTCCCCTGCTC	NM_001245	NP_001236	52034114	O43699	SIGL6_HUMAN	0		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	3	689	-	A	A		all_neural(266;0.0199)	Missense_Mutation	176			Ig-like C2-type 1.|Extracellular (Potential).			
SIGLEC8	27181	broad.mit.edu	GRCh37	19	51958738	51958738	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs141833256		TCGA-06-0125-01	TCGA-06-0125-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321424.3:c.985C>T	p.Arg329Ter	p.R329*	ENST00000321424	NM_014442.2	329	Cga/Tga	0	A:0.0002		1			A	R/*	uc002pwt.2	protein_coding	YES	CCDS33086.1			985/1500								p.R329Q(1)	ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5	c.(985-987)CGA>TGA			PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF36,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726	sialic acid binding Ig-like lectin 8 precursor			A:0.0003	ENSP00000321077		7-Apr	8.24E-06					1.50E-05			rs141833256,COSM2149378	7-Apr	.		ENST00000321424	Transcript			cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	ENSG00000105366	g.chr19:51958738G>A	10877			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,19,51958738,G,A&fts=all	R329*	--	--	1																																		SIGLEC8_uc010yda.1_Nonsense_Mutation_p.R220*|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Nonsense_Mutation_p.R236*	0,1	1			p.R329*	NM_014442	NP_055257			0,1	SIGL8_HUMAN	SIGLEC8	HGNC	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)			4	1052	-		all_neural(266;0.0199)	UPI000013598B	329			Extracellular (Potential).|Ig-like C2-type 2.		SNV	SIGLEC8,stop_gained,p.Arg329Ter,ENST00000321424,NM_014442.2;SIGLEC8,stop_gained,p.Arg220Ter,ENST00000430817,;SIGLEC8,stop_gained,p.Arg236Ter,ENST00000340550,;SIGLEC8,downstream_gene_variant,,ENST00000597352,;	uc002pwt.2	c.985C>T	1052/2949	5	1			c.985C>T						19	SNP	c.(985-987)CGA>TGA	51	51		p.R329Q(1)	ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5	Broad	sialic acid binding Ig-like lectin 8 precursor			51958738		0.637	ENSG00000105366	14090	g.chr19:51958738G>A	cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity							78.156973	KEEP	13	14	-1	22	44	13	14	-1	80.313455	22	44	0.325	1	0	0	0	0	0	1	0	0	--	--		0	A			SIGLEC8_uc010yda.1_Nonsense_Mutation_p.R220*|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Nonsense_Mutation_p.R236*	12	GBM-06-0125-TP	p.R329*	G	TTCTGAGCTCGGCAGGTGAAT	NM_014442	NP_055257	51958738	Q9NYZ4	SIGL8_HUMAN	0		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	4	1052	-	A	A		all_neural(266;0.0199)	Nonsense_Mutation	329			Extracellular (Potential).|Ig-like C2-type 2.			
SIGLEC8	0	broad.mit.edu	GRCh37	19	51960834	51960834	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321424.3:c.614G>A	p.Arg205His	p.R205H	ENST00000321424	NM_014442.2	205	cGc/cAc	0	T:0.0005	T:0	1	T:0.0014		T	R/H	uc002pwt.2	protein_coding	YES	CCDS33086.1			614/1500									ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5	c.(613-615)CGC>CAC			PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF36,Pfam_domain:PF00047,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	sialic acid binding Ig-like lectin 8 precursor		T:0	T:0	ENSP00000321077	T:0	7-Feb	7.41E-05	0.000193	0.000346			4.52E-05			rs200891335,COSM2154738	7-Feb	.		ENST00000321424	Transcript		T:0.0002	cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	ENSG00000105366	g.chr19:51960834C>T	10877			MODERATE		0.38	neutral	getma.org/?cm=msa&ty=f&p=SIGL8_HUMAN&rb=168&re=226&var=R205H	getma.org/pdb.php?prot=SIGL8_HUMAN&from=168&to=226&var=R205H	getma.org/?cm=var&var=hg19,19,51960834,C,T&fts=all	R205H	--	--	1																																		SIGLEC8_uc010yda.1_Intron|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Intron	0,1	1		benign(0.001)	p.R205H	NM_014442	NP_055257	T:0	tolerated(0.56)	0,1	SIGL8_HUMAN	SIGLEC8	HGNC	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)			2	681	-		all_neural(266;0.0199)	UPI000013598B	205			Ig-like C2-type 1.|Extracellular (Potential).		SNV	SIGLEC8,missense_variant,p.Arg205His,ENST00000321424,NM_014442.2;SIGLEC8,intron_variant,,ENST00000430817,;SIGLEC8,intron_variant,,ENST00000340550,;SIGLEC8,non_coding_transcript_exon_variant,,ENST00000597352,;	uc002pwt.2	c.614G>A	681/2949	1	1			c.614G>A						19	SNP	c.(613-615)CGC>CAC	7	7			ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5	Broad	sialic acid binding Ig-like lectin 8 precursor			51960834		0.652	ENSG00000105366	14090	g.chr19:51960834C>T	cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity							120.367941	KEEP	25	24	-1	44	31	25	24	-1	121.412544	44	31	0.396396	1	0	0	0	0	1	0	0	0	--	--		0	T			SIGLEC8_uc010yda.1_Intron|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Intron	138	GBM-14-0813-TP	p.R205H	C	CACTGAGGAGCGGGCAGTAGT	NM_014442	NP_055257	51960834	Q9NYZ4	SIGL8_HUMAN	0		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	2	681	-	T	T		all_neural(266;0.0199)	Missense_Mutation	205			Ig-like C2-type 1.|Extracellular (Potential).			
SIGLEC8	0	broad.mit.edu	GRCh37	19	51960480	51960480	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-28-5207-01	TCGA-28-5207-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321424.3:c.739C>G	p.Pro247Ala	p.P247A	ENST00000321424	NM_014442.2	247	Cct/Gct	0			1			C	P/A	uc002pwt.2	protein_coding	YES	CCDS33086.1			739/1500									ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5	c.(739-741)CCT>GCT			PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF36,Gene3D:2.60.40.10	sialic acid binding Ig-like lectin 8 precursor				ENSP00000321077		7-Mar									COSM2157335	7-Mar	.		ENST00000321424	Transcript			cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	ENSG00000105366	g.chr19:51960480G>C	10877			MODERATE		3.04	medium	getma.org/?cm=msa&ty=f&p=SIGL8_HUMAN&rb=246&re=344&var=P247A	NA	getma.org/?cm=var&var=hg19,19,51960480,G,C&fts=all	P247A	--	--	1																																		SIGLEC8_uc010yda.1_Intron|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Missense_Mutation_p.P154A	1	1		possibly_damaging(0.505)	p.P247A	NM_014442	NP_055257		deleterious(0.01)	1	SIGL8_HUMAN	SIGLEC8	HGNC	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)			3	806	-		all_neural(266;0.0199)	UPI000013598B	247			Extracellular (Potential).|Ig-like C2-type 2.		SNV	SIGLEC8,missense_variant,p.Pro247Ala,ENST00000321424,NM_014442.2;SIGLEC8,missense_variant,p.Pro154Ala,ENST00000340550,;SIGLEC8,intron_variant,,ENST00000430817,;SIGLEC8,non_coding_transcript_exon_variant,,ENST00000597352,;	uc002pwt.2	c.739C>G	806/2949	4	4			c.739C>G						19	SNP	c.(739-741)CCT>GCT	43	43			ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5	Broad	sialic acid binding Ig-like lectin 8 precursor			51960480		0.557	ENSG00000105366	14090	g.chr19:51960480G>C	cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity							255.182306	KEEP	25	46	-1	44	52	25	46	-1	255.849172	44	52	0.43038	1	0	0	0	0	1	0	0	0	--	--		0	C			SIGLEC8_uc010yda.1_Intron|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Missense_Mutation_p.P154A	216	GBM-28-5207-TP	p.P247A	G	AAGTTCCAAGGAGGGTCTGGG	NM_014442	NP_055257	51960480	Q9NYZ4	SIGL8_HUMAN	0		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	3	806	-	C	C		all_neural(266;0.0199)	Missense_Mutation	247			Extracellular (Potential).|Ig-like C2-type 2.			
SIGLEC8	27181		GRCh37	19	51957534	51957534	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000321424.3:c.1184C>A	p.Ala395Glu	p.A395E	ENST00000321424	NM_014442.2	395	gCa/gAa	0																																																																																																																																																																																																																																												
SIGLEC9	27180	broad.mit.edu	GRCh37	19	51630497	51630497	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01	TCGA-06-0122-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000440804.3:c.959G>A	p.Cys320Tyr	p.C320Y	ENST00000440804	NM_001198558.1	320	tGc/tAc	0			1			A	C/Y	uc002pvu.2	protein_coding		CCDS12825.1			959/1392									skin(1)	1	c.(958-960)TGC>TAC			Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF43,SMART_domains:SM00409,Superfamily_domains:SSF48726	sialic acid binding Ig-like lectin 9 precursor				ENSP00000250360		7-Apr									COSM2149170	7-Apr	.		ENST00000250360	Transcript			cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	ENSG00000129450	g.chr19:51630497G>A	10878			MODERATE		4.165	high	getma.org/?cm=msa&ty=f&p=SIGL9_HUMAN&rb=253&re=337&var=C320Y	NA	getma.org/?cm=var&var=hg19,19,51630497,G,A&fts=all	C320Y	--	--	1																																		SIGLEC9_uc010yct.1_Missense_Mutation_p.C320Y	1			probably_damaging(0.994)	p.C320Y	NM_014441	NP_055256		deleterious(0)	1	SIGL9_HUMAN	SIGLEC9	HGNC	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)			4	1026	+		all_neural(266;0.0529)	UPI00000389EE	320			Extracellular (Potential).|Ig-like C2-type 2.		SNV	SIGLEC9,missense_variant,p.Cys320Tyr,ENST00000440804,NM_001198558.1;SIGLEC9,missense_variant,p.Cys320Tyr,ENST00000250360,NM_014441.2;SIGLEC9,missense_variant,p.Cys71Tyr,ENST00000599948,;SIGLEC18P,downstream_gene_variant,,ENST00000602271,;	uc002pvu.2	c.959G>A	1026/1690	1	1			c.959G>A						19	SNP	c.(958-960)TGC>TAC	64	64			skin(1)	1	Broad	sialic acid binding Ig-like lectin 9 precursor			51630497		0.622	ENSG00000129450	14091	g.chr19:51630497G>A	cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding							62.768384	KEEP	15	10	-1	32	22	15	10	-1	65.064621	32	22	0.315789	1	0	0	0	0	1	0	0	0	--	--		0	A			SIGLEC9_uc010yct.1_Missense_Mutation_p.C320Y	10	GBM-06-0122-TP	p.C320Y	G	GAATTCACCTGCAGAGCTCAG	NM_014441	NP_055256	51630497	Q9Y336	SIGL9_HUMAN	0		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	4	1026	+	A	A		all_neural(266;0.0529)	Missense_Mutation	320			Extracellular (Potential).|Ig-like C2-type 2.			
SIGLEC9	0	broad.mit.edu	GRCh37	19	51633283	51633283	+	synonymous_variant	Silent	SNP	C	C	A	rs141580830		TCGA-14-2554-01	TCGA-14-2554-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000250360.3:c.1339C>A	p.Arg447=	p.R447=	ENST00000250360	NM_014441.2	447	Cgg/Agg	0			1			A	R	uc002pvu.2	protein_coding		CCDS12825.1			1339/1392									skin(1)	1	c.(1339-1341)CGG>AGG				sialic acid binding Ig-like lectin 9 precursor				ENSP00000250360		7-Jul									COSM3404496	7-Jul	.		ENST00000250360	Transcript			cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	ENSG00000129450	g.chr19:51633283C>A	10878			LOW								--	--	1																																		SIGLEC9_uc010yct.1_Intron	1				p.R447R	NM_014441	NP_055256			1	SIGL9_HUMAN	SIGLEC9	HGNC	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)			7	1406	+		all_neural(266;0.0529)	UPI00000389EE	447			Cytoplasmic (Potential).		SNV	SIGLEC9,synonymous_variant,p.=,ENST00000250360,NM_014441.2;SIGLEC9,intron_variant,,ENST00000440804,NM_001198558.1;SIGLEC9,downstream_gene_variant,,ENST00000599948,;	uc002pvu.2	c.1339C>A	1406/1690	2	2			c.1339C>A						19	SNP	c.(1339-1341)CGG>AGG	31	31			skin(1)	1	Broad	sialic acid binding Ig-like lectin 9 precursor			51633283		0.602	ENSG00000129450	14091	g.chr19:51633283C>A	cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding							87.016774	KEEP	15	24	0.615384615	57	59	15	24	0.615384615	94.512626	57	59	0.25	1	0	0	0	0	0	0	1	0	--	--		0	A			SIGLEC9_uc010yct.1_Intron	150	GBM-14-2554-TP	p.R447R	C	TTGGGACTCGCGGGGACAGGA	NM_014441	NP_055256	51633283	Q9Y336	SIGL9_HUMAN	0		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	7	1406	+	A	A		all_neural(266;0.0529)	Silent	447			Cytoplasmic (Potential).			
SIGLEC9	0	broad.mit.edu	GRCh37	19	51630344	51630344	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs149764192		TCGA-16-1045-01	TCGA-16-1045-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000250360.3:c.806G>A	p.Arg269His	p.R269H	ENST00000250360	NM_014441.2	269	cGc/cAc	0	A:0		1			A	R/H	uc002pvu.2	protein_coding		CCDS12825.1			806/1392									skin(1)	1	c.(805-807)CGC>CAC			Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF43,SMART_domains:SM00409,Superfamily_domains:SSF48726	sialic acid binding Ig-like lectin 9 precursor			A:0.0002	ENSP00000250360		7-Apr	9.88E-05					0.00018			rs149764192,COSM3404495	7-Apr	.		ENST00000250360	Transcript			cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	ENSG00000129450	g.chr19:51630344G>A	10878			MODERATE		2.155	medium	getma.org/?cm=msa&ty=f&p=SIGL9_HUMAN&rb=253&re=337&var=R269H	NA	getma.org/?cm=var&var=hg19,19,51630344,G,A&fts=all	R269H	--	--	1																																		SIGLEC9_uc010yct.1_Missense_Mutation_p.R269H	0,1			benign(0.103)	p.R269H	NM_014441	NP_055256		tolerated(0.16)	0,1	SIGL9_HUMAN	SIGLEC9	HGNC	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)			4	873	+		all_neural(266;0.0529)	UPI00000389EE	269	R -> H (in Ref. 2; AAF87223).		Extracellular (Potential).|Ig-like C2-type 2.		SNV	SIGLEC9,missense_variant,p.Arg269His,ENST00000440804,NM_001198558.1;SIGLEC9,missense_variant,p.Arg269His,ENST00000250360,NM_014441.2;SIGLEC9,missense_variant,p.Arg20His,ENST00000599948,;SIGLEC18P,downstream_gene_variant,,ENST00000602271,;	uc002pvu.2	c.806G>A	873/1690	2	2			c.806G>A						19	SNP	c.(805-807)CGC>CAC	29	29			skin(1)	1	Broad	sialic acid binding Ig-like lectin 9 precursor			51630344		0.483	ENSG00000129450	14091	g.chr19:51630344G>A	cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding							172.822176	KEEP	34	45	-1	100	116	34	45	-1	185.131314	100	116	0.266932	1	0	0	0	0	1	0	0	0	--	--		0	A			SIGLEC9_uc010yct.1_Missense_Mutation_p.R269H	157	GBM-16-1045-TP	p.R269H	G	CAGTCTCTGCGCCTGGTCTGT	NM_014441	NP_055256	51630344	Q9Y336	SIGL9_HUMAN	0		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	4	873	+	A	A		all_neural(266;0.0529)	Missense_Mutation	269	R -> H (in Ref. 2; AAF87223).		Extracellular (Potential).|Ig-like C2-type 2.			
SIGLECL1	0	broad.mit.edu	GRCh37	19	51768774	51768774	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-41-3393-01	TCGA-41-3393-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316401.7:c.175T>A	p.Ser59Thr	p.S59T	ENST00000316401	NM_173635.1	59	Tcc/Acc	0			1			A	S/T	uc002pwb.1	protein_coding	YES	CCDS12827.1			175/594									ovary(1)|pancreas(1)	2	c.(175-177)TCC>ACC			Gene3D:2.60.40.10,hmmpanther:PTHR12035,Superfamily_domains:SSF48726	hypothetical protein LOC284369				ENSP00000321249		6-Mar									COSM3404500	6-Mar	.		ENST00000316401	Transcript				integral to membrane		ENSG00000179213	g.chr19:51768774T>A	26856			MODERATE		2.22	medium	getma.org/?cm=msa&ty=f&p=CS075_HUMAN&rb=1&re=197&var=S59T	NA	getma.org/?cm=var&var=hg19,19,51768774,T,A&fts=all	S59T	--	--	1																																		C19orf75_uc010eov.1_Intron|C19orf75_uc010ycw.1_Intron	1	1		probably_damaging(0.997)	p.S59T	NM_173635	NP_775906		tolerated(0.13)	1	SIGL1_HUMAN	SIGLECL1	HGNC	Q8N7X8	CS075_HUMAN			M0QY54_HUMAN,M0QY48_HUMAN		3	556	+			UPI000006D35D	59					SNV	SIGLECL1,missense_variant,p.Ser59Thr,ENST00000316401,NM_173635.1;SIGLECL1,missense_variant,p.Ser59Thr,ENST00000601727,;SIGLECL1,missense_variant,p.Ser59Thr,ENST00000597610,;SIGLECL1,intron_variant,,ENST00000597824,;SIGLECL1,downstream_gene_variant,,ENST00000596117,;CTD-3187F8.2,intron_variant,,ENST00000597569,;SIGLECL1,intron_variant,,ENST00000593968,;SIGLECL1,downstream_gene_variant,,ENST00000599553,;	uc002pwb.1	c.175T>A	556/1708	1	1			c.175T>A						19	SNP	c.(175-177)TCC>ACC	64	64			ovary(1)|pancreas(1)	2	Broad	hypothetical protein LOC284369			51768774		0.567	ENSG00000179213	1907	g.chr19:51768774T>A		integral to membrane								77.867693	KEEP	18	17	-1	27	61	18	17	-1	82.630219	27	61	0.283186	1	0	0	0	0	1	0	0	0	--	--		0	A			C19orf75_uc010eov.1_Intron|C19orf75_uc010ycw.1_Intron	255	GBM-41-3393-TP	p.S59T	T	CCAAGTGACTTCCACCATGCT	NM_173635	NP_775906	51768774	Q8N7X8	CS075_HUMAN	0			3	556	+	A	A			Missense_Mutation	59						
SIK2	0	broad.mit.edu	GRCh37	11	111590592	111590592	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2634-01	TCGA-32-2634-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304987.3:c.1360G>A	p.Glu454Lys	p.E454K	ENST00000304987	NM_015191.1	454	Gaa/Aaa	0			1			A	E/K	uc001plt.2	protein_coding	YES	CCDS8347.1			1360/2781									central_nervous_system(2)|skin(1)	3	c.(1360-1362)GAA>AAA			PIRSF_domain:PIRSF037014,hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF145,Low_complexity_(Seg):seg	SNF1-like kinase 2				ENSP00000305976		15-Oct	1.65E-05		8.65E-05			1.50E-05			rs752159549,COSM3397409	15-Oct	.		ENST00000304987	Transcript			intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	ENSG00000170145	g.chr11:111590592G>A	21680			MODERATE		2.28	medium	getma.org/?cm=msa&ty=f&p=SIK2_HUMAN&rb=272&re=471&var=E454K	NA	getma.org/?cm=var&var=hg19,11,111590592,G,A&fts=all	E454K	--	--	1																																			0,1	1		probably_damaging(0.997)	p.E454K	NM_015191	NP_056006		deleterious(0)	0,1	SIK2_HUMAN	SIK2	HGNC	Q9H0K1	SIK2_HUMAN					10	1478	+			UPI000006F406	454					SNV	SIK2,missense_variant,p.Glu454Lys,ENST00000304987,NM_015191.1;SIK2,non_coding_transcript_exon_variant,,ENST00000533868,;	uc001plt.2	c.1360G>A	1533/9678	2	2			c.1360G>A						11	SNP	c.(1360-1362)GAA>AAA	26	26			central_nervous_system(2)|skin(1)	3	Broad	SNF1-like kinase 2			111590592		0.587	ENSG00000170145	14094	g.chr11:111590592G>A	intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			204			204	111.587057	KEEP	25	13	-1	33	24	25	13	-1	112.083898	33	24	0.418605	1	0	0	0	0	1	0	0	0	--	--		0	A				241	GBM-32-2634-TP	p.E454K	G	CTCCATTGACGAAGGGCTGGA	NM_015191	NP_056006	111590592	Q9H0K1	SIK2_HUMAN	0			10	1478	+	A	A			Missense_Mutation	454						
SIK3	0	broad.mit.edu	GRCh37	11	116732043	116732043	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2638-01	TCGA-32-2638-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000292055.4:c.2054G>A	p.Arg685Lys	p.R685K	ENST00000292055	NM_025164.3	685	aGg/aAg	0			1			T	R/K	uc001ppy.2	protein_coding	YES	CCDS8379.1			2054/3792									ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12	c.(2053-2055)AGG>AAG			Superfamily_domains:SSF56112,hmmpanther:PTHR22971	serine/threonine-protein kinase QSK				ENSP00000292055		18/24									COSM3397434	18/24	.		ENST00000292055	Transcript				cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	ENSG00000160584	g.chr11:116732043C>T	29165			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=SIK3_HUMAN&rb=548&re=1261&var=R685K	NA	getma.org/?cm=var&var=hg19,11,116732043,C,T&fts=all	R685K	--	--	1																																OREG0003492	type=REGULATORY REGION|Gene=BC035583|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	SIK3_uc001ppz.2_Missense_Mutation_p.R584K|SIK3_uc001pqa.2_Missense_Mutation_p.R685K|SIK3_uc001ppw.2_Missense_Mutation_p.R102K|SIK3_uc001ppx.2_Intron|SIK3_uc001pqb.2_5'UTR	1	1		probably_damaging(0.983)	p.R685K	NM_025164	NP_079440		deleterious_low_confidence(0.01)	1	SIK3_HUMAN	SIK3	HGNC	Q9Y2K2	SIK3_HUMAN					18	2090	-			UPI00001FA400	685			Gln-rich.		SNV	SIK3,missense_variant,p.Arg785Lys,ENST00000445177,;SIK3,missense_variant,p.Arg743Lys,ENST00000375300,;SIK3,missense_variant,p.Arg685Lys,ENST00000292055,NM_025164.3;SIK3,missense_variant,p.Arg743Lys,ENST00000446921,NM_001281749.1;SIK3,missense_variant,p.Arg584Lys,ENST00000434315,NM_001281748.1;SIK3,missense_variant,p.Arg685Lys,ENST00000542607,;SIK3,intron_variant,,ENST00000375288,;SIK3,intron_variant,,ENST00000488337,;SIK3,3_prime_UTR_variant,,ENST00000415541,;SIK3,non_coding_transcript_exon_variant,,ENST00000465421,;SIK3,non_coding_transcript_exon_variant,,ENST00000480468,;	uc001ppy.2	c.2054G>A	2090/6067	1	1			c.2054G>A						11	SNP	c.(2053-2055)AGG>AAG	16	16			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12	Broad	serine/threonine-protein kinase QSK			116732043		0.493	ENSG00000160584	14095	g.chr11:116732043C>T		cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			634			634	115.84018	KEEP	29	16	-1	52	27	29	16	-1	118.08792	52	27	0.345794	1	0	0	0	0	1	0	0	0	--	--		0	T	OREG0003492	type=REGULATORY REGION|Gene=BC035583|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	SIK3_uc001ppz.2_Missense_Mutation_p.R584K|SIK3_uc001pqa.2_Missense_Mutation_p.R685K|SIK3_uc001ppw.2_Missense_Mutation_p.R102K|SIK3_uc001ppx.2_Intron|SIK3_uc001pqb.2_5'UTR	242	GBM-32-2638-TP	p.R685K	C	ACTGGGCTGCCTGAAGAGATG	NM_025164	NP_079440	116732043	Q9Y2K2	SIK3_HUMAN	0			18	2090	-	T	T			Missense_Mutation	685			Gln-rich.			
SIM1	6492	broad.mit.edu	GRCh37	6	100841583	100841583	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369208.3:c.1350G>A	p.Ala450=	p.A450=	ENST00000369208		450	gcG/gcA	0			1			T	A	uc003pqj.3	protein_coding		CCDS5045.1			1350/2301									ovary(4)	4	c.(1348-1350)GCG>GCA			PROSITE_profiles:PS51302,hmmpanther:PTHR23043:SF22,hmmpanther:PTHR23043,Pfam_domain:PF06621	single-minded homolog 1				ENSP00000262901		11-Oct									COSM3410502	11-Oct	.		ENST00000262901	Transcript	1		cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	ENSG00000112246	g.chr6:100841583C>T	10882			LOW								--	--	1																																		SIM1_uc010kcu.2_Silent_p.A450A	1				p.A450A	NM_005068	NP_005059			1	SIM1_HUMAN	SIM1	HGNC	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)			10	1557	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	UPI000013D355	450			Single-minded C-terminal.		SNV	SIM1,synonymous_variant,p.=,ENST00000369208,;SIM1,synonymous_variant,p.=,ENST00000262901,NM_005068.2;SIM1,non_coding_transcript_exon_variant,,ENST00000505753,;	uc003pqj.3	c.1350G>A	1559/3999	1	1			c.1350G>A						6	SNP	c.(1348-1350)GCG>GCA	5	5			ovary(4)	4	Broad	single-minded homolog 1			100841583		0.622	ENSG00000112246	14099	g.chr6:100841583C>T	cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity							101.567573	KEEP	14	36	-1	58	63	14	36	-1	107.900037	58	63	0.276596	1	0	0	0	0	0	0	1	0	--	--		0	T			SIM1_uc010kcu.2_Silent_p.A450A	46	GBM-06-0209-TP	p.A450A	C	AGTGGTCAAGCGCAAAGCCAT	NM_005068	NP_005059	100841583	P81133	SIM1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.0774)	10	1557	-	T	T		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	Silent	450			Single-minded C-terminal.			
SIM1	0	broad.mit.edu	GRCh37	6	100838896	100838896	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-12-3652-01	TCGA-12-3652-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262901.4:c.1642C>T	p.Arg548Ter	p.R548*	ENST00000262901	NM_005068.2	548	Cga/Tga	0			1			A	R/*	uc003pqj.3	protein_coding		CCDS5045.1			1642/2301									ovary(4)	4	c.(1642-1644)CGA>TGA			PROSITE_profiles:PS51302,hmmpanther:PTHR23043:SF22,hmmpanther:PTHR23043,Pfam_domain:PF06621	single-minded homolog 1				ENSP00000262901		11-Nov									COSM3410501	11-Nov	.		ENST00000262901	Transcript	1		cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	ENSG00000112246	g.chr6:100838896G>A	10882			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,6,100838896,G,A&fts=all	R548*	--	--	1																																		SIM1_uc010kcu.2_Nonsense_Mutation_p.R548*	1				p.R548*	NM_005068	NP_005059			1	SIM1_HUMAN	SIM1	HGNC	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)			11	1849	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	UPI000013D355	548			Single-minded C-terminal.		SNV	SIM1,stop_gained,p.Arg548Ter,ENST00000369208,;SIM1,stop_gained,p.Arg548Ter,ENST00000262901,NM_005068.2;SIM1,downstream_gene_variant,,ENST00000505753,;	uc003pqj.3	c.1642C>T	1851/3999	5	2			c.1642C>T						6	SNP	c.(1642-1644)CGA>TGA	24	24			ovary(4)	4	Broad	single-minded homolog 1			100838896		0.428	ENSG00000112246	14099	g.chr6:100838896G>A	cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity							194.251715	KEEP	27	40	-1	36	51	27	40	-1	194.756515	36	51	0.435714	1	0	0	0	0	0	1	0	0	--	--		0	A			SIM1_uc010kcu.2_Nonsense_Mutation_p.R548*	127	GBM-12-3652-TP	p.R548*	G	GTACGATATCGGTCACCTGAT	NM_005068	NP_005059	100838896	P81133	SIM1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.0774)	11	1849	-	A	A		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	Nonsense_Mutation	548			Single-minded C-terminal.			
SIM1	0	broad.mit.edu	GRCh37	6	100841630	100841630	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01	TCGA-27-2526-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262901.4:c.1303G>A	p.Ala435Thr	p.A435T	ENST00000262901	NM_005068.2	435	Gcc/Acc	0			1			T	A/T	uc003pqj.3	protein_coding		CCDS5045.1			1303/2301									ovary(4)	4	c.(1303-1305)GCC>ACC			PROSITE_profiles:PS51302,hmmpanther:PTHR23043:SF22,hmmpanther:PTHR23043,Pfam_domain:PF06621	single-minded homolog 1				ENSP00000262901		11-Oct									COSM3410503	11-Oct	.		ENST00000262901	Transcript	1		cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	ENSG00000112246	g.chr6:100841630C>T	10882			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=SIM1_HUMAN&rb=359&re=670&var=A435T	NA	getma.org/?cm=var&var=hg19,6,100841630,C,T&fts=all	A435T	--	--	1																																		SIM1_uc010kcu.2_Missense_Mutation_p.A435T	1			benign(0.37)	p.A435T	NM_005068	NP_005059		tolerated(0.09)	1	SIM1_HUMAN	SIM1	HGNC	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)			10	1510	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	UPI000013D355	435			Single-minded C-terminal.		SNV	SIM1,missense_variant,p.Ala435Thr,ENST00000369208,;SIM1,missense_variant,p.Ala435Thr,ENST00000262901,NM_005068.2;SIM1,non_coding_transcript_exon_variant,,ENST00000505753,;	uc003pqj.3	c.1303G>A	1512/3999	1	1			c.1303G>A						6	SNP	c.(1303-1305)GCC>ACC	5	5			ovary(4)	4	Broad	single-minded homolog 1			100841630		0.617	ENSG00000112246	14099	g.chr6:100841630C>T	cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity							126.625618	KEEP	28	27	-1	44	40	28	27	-1	127.552439	44	40	0.403509	1	0	0	0	0	1	0	0	0	--	--		0	T			SIM1_uc010kcu.2_Missense_Mutation_p.A435T	203	GBM-27-2526-TP	p.A435T	C	TGTCTGTAGGCGCACGATGCG	NM_005068	NP_005059	100841630	P81133	SIM1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.0774)	10	1510	-	T	T		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	Missense_Mutation	435			Single-minded C-terminal.			
SIM1	0	broad.mit.edu	GRCh37	6	100901720	100901720	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2494-01	TCGA-32-2494-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262901.4:c.176G>A	p.Gly59Glu	p.G59E	ENST00000262901	NM_005068.2	59	gGg/gAg	0			1			T	G/E	uc003pqj.3	protein_coding		CCDS5045.1			176/2301									ovary(4)	4	c.(175-177)GGG>GAG			hmmpanther:PTHR23043:SF22,hmmpanther:PTHR23043,SMART_domains:SM00353	single-minded homolog 1				ENSP00000262901		11-Feb									COSM3410506	11-Feb	.		ENST00000262901	Transcript	1		cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	ENSG00000112246	g.chr6:100901720C>T	10882			MODERATE		2.29	medium	getma.org/?cm=msa&ty=f&p=SIM1_HUMAN&rb=23&re=108&var=G59E	getma.org/pdb.php?prot=SIM1_HUMAN&from=53&to=78&var=G59E	getma.org/?cm=var&var=hg19,6,100901720,C,T&fts=all	G59E	--	--	1																																		SIM1_uc010kcu.2_Missense_Mutation_p.G59E	1			probably_damaging(1)	p.G59E	NM_005068	NP_005059		deleterious(0)	1	SIM1_HUMAN	SIM1	HGNC	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)			2	383	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	UPI000013D355	59					SNV	SIM1,missense_variant,p.Gly59Glu,ENST00000369208,;SIM1,missense_variant,p.Gly59Glu,ENST00000262901,NM_005068.2;	uc003pqj.3	c.176G>A	385/3999	1	1			c.176G>A						6	SNP	c.(175-177)GGG>GAG	7	7			ovary(4)	4	Broad	single-minded homolog 1			100901720		0.627	ENSG00000112246	14099	g.chr6:100901720C>T	cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity							26.770587	KEEP	5	9	-1	27	23	5	9	-1	30.042766	27	23	0.235294	1	0	0	0	0	1	0	0	0	--	--		0	T			SIM1_uc010kcu.2_Missense_Mutation_p.G59E	236	GBM-32-2494-TP	p.G59E	C	CTCGCCGAGCCCTGTGGAGAC	NM_005068	NP_005059	100901720	P81133	SIM1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.0774)	2	383	-	T	T		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	Missense_Mutation	59						
SIM1	6492		GRCh37	6	100901684	100901684	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000369208.3:c.212G>A	p.Ser71Asn	p.S71N	ENST00000369208		71	aGc/aAc	0																																																																																																																																																																																																																																												
SIM1	6492		GRCh37	6	100896034	100896034	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000369208.3:c.838G>A	p.Ala280Thr	p.A280T	ENST00000369208		280	Gcg/Acg	0																																																																																																																																																																																																																																												
SIMC1	0	broad.mit.edu	GRCh37	5	175717776	175717776	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01	TCGA-32-2634-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000443967.1:c.1192C>T	p.Pro398Ser	p.P398S	ENST00000443967		398	Cca/Tca	0			1			T	P/S	uc003mds.3	protein_coding					1192/2619										0	c.(1192-1194)CCA>TCA			hmmpanther:PTHR23187,hmmpanther:PTHR23187:SF3	RecName: Full=Uncharacterized protein C5orf25;				ENSP00000406571		12-Apr									COSM3410156	12-Apr	.		ENST00000443967	Transcript						ENSG00000170085	g.chr5:175717776C>T	24779			MODERATE								--	--	1																																		C5orf25_uc003mdt.3_Intron|C5orf25_uc003mdr.3_Intron|C5orf25_uc011dfk.1_Missense_Mutation_p.P417S	1			benign(0.011)	p.P398S				tolerated_low_confidence(0.22)	1	SIMC1_HUMAN	SIMC1	HGNC	Q8NDZ2	CE025_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)			4	1599	+	all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	UPI000013E866	398					SNV	SIMC1,missense_variant,p.Pro398Ser,ENST00000443967,;SIMC1,missense_variant,p.Pro417Ser,ENST00000429602,;SIMC1,intron_variant,,ENST00000341199,NM_198567.4;SIMC1,intron_variant,,ENST00000430704,;SIMC1,intron_variant,,ENST00000467472,;SIMC1,downstream_gene_variant,,ENST00000503595,;SIMC1,downstream_gene_variant,,ENST00000514128,;SIMC1,downstream_gene_variant,,ENST00000508769,;SIMC1,intron_variant,,ENST00000495423,;	uc003mds.3	c.1192C>T	1599/3572	1	1			c.1192C>T						5	SNP	c.(1192-1194)CCA>TCA	8	8				0	Broad	RecName: Full=Uncharacterized protein C5orf25;			175717776		0.517	ENSG00000170085	2242	g.chr5:175717776C>T										143.335244	KEEP	28	35	-1	66	75	28	35	-1	145.567186	66	75	0.362963	1	0	0	0	0	1	0	0	0	--	--		0	T			C5orf25_uc003mdt.3_Intron|C5orf25_uc003mdr.3_Intron|C5orf25_uc011dfk.1_Missense_Mutation_p.P417S	241	GBM-32-2634-TP	p.P398S	C	CATGGAAACCCCAGCCAGAAA			175717776	Q8NDZ2	CE025_HUMAN	0	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)	4	1599	+	T	T	all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Missense_Mutation	398						
SIN3A	25942	broad.mit.edu	GRCh37	15	75722661	75722661	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394947.3:c.56G>A	p.Arg19Gln	p.R19Q	ENST00000394947	NM_001145358.1	19	cGg/cAg	0			1			T	R/Q	uc002bai.2	protein_coding		CCDS10279.1			56/3822									skin(3)|ovary(1)|lung(1)	5	c.(55-57)CGG>CAG			hmmpanther:PTHR12346,hmmpanther:PTHR12346:SF2	transcriptional co-repressor Sin3A				ENSP00000353622		21-Feb									COSM3401927,COSM3401928	21-Feb	.		ENST00000360439	Transcript			blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	ENSG00000169375	g.chr15:75722661C>T	19353			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=SIN3A_HUMAN&rb=1&re=140&var=R19Q	NA	getma.org/?cm=var&var=hg19,15,75722661,C,T&fts=all	R19Q	--	--	1																																		SIN3A_uc002baj.2_Missense_Mutation_p.R19Q|SIN3A_uc010uml.1_Missense_Mutation_p.R19Q|SIN3A_uc002bak.3_Missense_Mutation_p.R19Q	1,1			benign(0.005)	p.R19Q	NM_015477	NP_056292		tolerated_low_confidence(0.1)	1,1	SIN3A_HUMAN	SIN3A	HGNC	Q96ST3	SIN3A_HUMAN			H3BT34_HUMAN,H3BQ88_HUMAN,H3BQ76_HUMAN,H3BP90_HUMAN,H3BNZ3_HUMAN,H3BNA0_HUMAN		2	315	-			UPI000013EAD4	19					SNV	SIN3A,missense_variant,p.Arg19Gln,ENST00000394947,NM_001145358.1;SIN3A,missense_variant,p.Arg19Gln,ENST00000360439,NM_001145357.1;SIN3A,missense_variant,p.Arg19Gln,ENST00000394949,NM_015477.2;SIN3A,missense_variant,p.Arg19Gln,ENST00000567289,;SIN3A,missense_variant,p.Arg19Gln,ENST00000564778,;SIN3A,missense_variant,p.Arg19Gln,ENST00000562776,;SIN3A,missense_variant,p.Arg19Gln,ENST00000568190,;SIN3A,missense_variant,p.Arg19Gln,ENST00000568431,;SIN3A,missense_variant,p.Arg19Gln,ENST00000570115,;SIN3A,missense_variant,p.Arg19Gln,ENST00000568309,;SIN3A,downstream_gene_variant,,ENST00000565264,;SIN3A,non_coding_transcript_exon_variant,,ENST00000568919,;	uc002bai.2	c.56G>A	238/5050	2	2			c.56G>A						15	SNP	c.(55-57)CGG>CAG	28	28			skin(3)|ovary(1)|lung(1)	5	Broad	transcriptional co-repressor Sin3A			75722661		0.577	ENSG00000169375	14101	g.chr15:75722661C>T	blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding							85.486413	KEEP	11	16	-1	6	12	11	16	-1	86.17003	6	12	0.641026	1	0	0	0	0	1	0	0	0	--	--		0	T			SIN3A_uc002baj.2_Missense_Mutation_p.R19Q|SIN3A_uc010uml.1_Missense_Mutation_p.R19Q|SIN3A_uc002bak.3_Missense_Mutation_p.R19Q	102	GBM-06-5858-TP	p.R19Q	C	GCCAGGGATCCGACGCTGCTG	NM_015477	NP_056292	75722661	Q96ST3	SIN3A_HUMAN	0			2	315	-	T	T			Missense_Mutation	19						
SIPA1	6494	broad.mit.edu	GRCh37	11	65408796	65408796	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0190-01	TCGA-06-0190-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394224.3:c.404T>G	p.Met135Arg	p.M135R	ENST00000394224	NM_153253.29	135	aTg/aGg	0			1			G	M/R	uc001ofb.2	protein_coding	YES	CCDS8108.1			404/3129										0	c.(403-405)ATG>AGG			hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF14	signal-induced proliferation-associated protein				ENSP00000377771		16-Feb	4.12E-05				0.000305	3.05E-05			rs772798455,COSM3747896	16-Feb	.		ENST00000394224	Transcript			cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	ENSG00000213445	g.chr11:65408796T>G	10885			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=SIPA1_HUMAN&rb=1&re=200&var=M135R	NA	getma.org/?cm=var&var=hg19,11,65408796,T,G&fts=all	M135R	--	--	1																																		SIPA1_uc010rom.1_Missense_Mutation_p.M135R|SIPA1_uc001ofd.2_Missense_Mutation_p.M135R	0,1	1		benign(0.001)	p.M135R	NM_006747	NP_006738		tolerated(0.72)	0,1	SIPA1_HUMAN	SIPA1	HGNC	Q96FS4	SIPA1_HUMAN			E9PIB3_HUMAN		2	571	+			UPI0000135D8A	135					SNV	SIPA1,missense_variant,p.Met135Arg,ENST00000394224,NM_153253.29;SIPA1,missense_variant,p.Met135Arg,ENST00000534313,NM_006747.3;SIPA1,missense_variant,p.Met135Arg,ENST00000527525,;SIPA1,missense_variant,p.Met135Arg,ENST00000394227,;PCNXL3,downstream_gene_variant,,ENST00000355703,NM_032223.2;SIPA1,downstream_gene_variant,,ENST00000533361,;SIPA1,downstream_gene_variant,,ENST00000526137,;MIR4690,downstream_gene_variant,,ENST00000578459,;PCNXL3,downstream_gene_variant,,ENST00000439247,;SIPA1,upstream_gene_variant,,ENST00000530226,;SIPA1,upstream_gene_variant,,ENST00000534406,;	uc001ofb.2	c.404T>G	700/3628	3	3			c.404T>G						11	SNP	c.(403-405)ATG>AGG	7	7				0	Broad	signal-induced proliferation-associated protein			65408796		0.622	ENSG00000213445	14104	g.chr11:65408796T>G	cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity							-9.878561	KEEP	13	8	-1	46	50	13	8	-1	7.446909	46	50	0.068182	1	0	0	0	0	1	0	0	0	--	--		0	G			SIPA1_uc010rom.1_Missense_Mutation_p.M135R|SIPA1_uc001ofd.2_Missense_Mutation_p.M135R	43	GBM-06-0190-TP	p.M135R	T	TCTCAGGGGATGGGGAGCCAC	NM_006747	NP_006738	65408796	Q96FS4	SIPA1_HUMAN	0			2	571	+	G	G			Missense_Mutation	135						
SIPA1	0	broad.mit.edu	GRCh37	11	65417064	65417064	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-26-6173-01	TCGA-26-6173-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394224.3:c.2558A>C	p.Asn853Thr	p.N853T	ENST00000394224	NM_153253.29	853	aAc/aCc	0			1			C	N/T	uc001ofb.2	protein_coding	YES	CCDS8108.1			2558/3129										0	c.(2557-2559)AAC>ACC			hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF14	signal-induced proliferation-associated protein				ENSP00000377771		16-Nov	2.47E-05			0.000116		3.00E-05			rs753050344,COSM3747897	16-Nov	.		ENST00000394224	Transcript			cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	ENSG00000213445	g.chr11:65417064A>C	10885			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=SIPA1_HUMAN&rb=760&re=959&var=N853T	NA	getma.org/?cm=var&var=hg19,11,65417064,A,C&fts=all	N853T	1.445	low	1																																		SIPA1_uc010rom.1_Missense_Mutation_p.N751T|SIPA1_uc001ofd.2_Missense_Mutation_p.N853T	0,1	1		benign(0.001)	p.N853T	NM_006747	NP_006738		tolerated(0.17)	0,1	SIPA1_HUMAN	SIPA1	HGNC	Q96FS4	SIPA1_HUMAN			E9PIB3_HUMAN		11	2725	+			UPI0000135D8A	853					SNV	SIPA1,missense_variant,p.Asn853Thr,ENST00000394224,NM_153253.29;SIPA1,missense_variant,p.Asn853Thr,ENST00000534313,NM_006747.3;SIPA1,missense_variant,p.Asn751Thr,ENST00000527525,;SIPA1,missense_variant,p.Asn751Thr,ENST00000394227,;RELA,downstream_gene_variant,,ENST00000525693,;RELA,downstream_gene_variant,,ENST00000406246,NM_001243985.1,NM_001243984.1,NM_021975.3;RELA,downstream_gene_variant,,ENST00000308639,NM_001145138.1;MIR4489,downstream_gene_variant,,ENST00000578869,;SIPA1,non_coding_transcript_exon_variant,,ENST00000531339,;RELA,downstream_gene_variant,,ENST00000531484,;RELA,downstream_gene_variant,,ENST00000526283,;SIPA1,downstream_gene_variant,,ENST00000530226,;SIPA1,upstream_gene_variant,,ENST00000528699,;SIPA1,upstream_gene_variant,,ENST00000529725,;	uc001ofb.2	c.2558A>C	2854/3628	3	3			c.2558A>C						11	SNP	c.(2557-2559)AAC>ACC	1	1				0	Broad	signal-induced proliferation-associated protein			65417064		0.642	ENSG00000213445	14104	g.chr11:65417064A>C	cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity							89.712358	KEEP	19	19	-1	46	42	19	19	-1	93.285555	46	42	0.3	1	0	0	0	0	1	0	0	0	1.445	low		0	C			SIPA1_uc010rom.1_Missense_Mutation_p.N751T|SIPA1_uc001ofd.2_Missense_Mutation_p.N853T	187	GBM-26-6173-TP	p.N853T	A	GTCCTGCCCAACACCACCCCG	NM_006747	NP_006738	65417064	Q96FS4	SIPA1_HUMAN	0			11	2725	+	C	C			Missense_Mutation	853						
SIPA1L1	26037	broad.mit.edu	GRCh37	14	72055586	72055586	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0152-01	TCGA-06-0152-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000555818.1:c.997C>T	p.His333Tyr	p.H333Y	ENST00000555818	NM_015556.1	333	Cac/Tac	0			1			T	H/Y	uc001xms.2	protein_coding	YES	CCDS9807.1			997/5415									ovary(3)|breast(1)	4	c.(997-999)CAC>TAC			hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF10	signal-induced proliferation-associated 1 like				ENSP00000450832		22-Feb									COSM2149844	22-Feb	.		ENST00000555818	Transcript			actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	ENSG00000197555	g.chr14:72055586C>T	20284			MODERATE		2.505	medium	getma.org/?cm=msa&ty=f&p=SI1L1_HUMAN&rb=201&re=400&var=H333Y	NA	getma.org/?cm=var&var=hg19,14,72055586,C,T&fts=all	H333Y	--	--	1																																		SIPA1L1_uc001xmt.2_Missense_Mutation_p.H333Y|SIPA1L1_uc001xmu.2_Missense_Mutation_p.H333Y|SIPA1L1_uc001xmv.2_Missense_Mutation_p.H333Y	1	1		probably_damaging(0.968)	p.H333Y	NM_015556	NP_056371		deleterious(0)	1	SI1L1_HUMAN	SIPA1L1	HGNC	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	G3V4Z3_HUMAN		2	1345	+			UPI00000443CB	333					SNV	SIPA1L1,missense_variant,p.His333Tyr,ENST00000555818,NM_015556.1,NM_001284247.1;SIPA1L1,missense_variant,p.His333Tyr,ENST00000358550,NM_001284246.1;SIPA1L1,missense_variant,p.His333Tyr,ENST00000381232,NM_001284245.1;SIPA1L1,downstream_gene_variant,,ENST00000557151,;SIPA1L1,downstream_gene_variant,,ENST00000555989,;SIPA1L1,downstream_gene_variant,,ENST00000554362,;SIPA1L1,downstream_gene_variant,,ENST00000555652,;	uc001xms.2	c.997C>T	1345/7831	1	1			c.997C>T						14	SNP	c.(997-999)CAC>TAC	4	4			ovary(3)|breast(1)	4	Broad	signal-induced proliferation-associated 1 like			72055586		0.448	ENSG00000197555	14105	g.chr14:72055586C>T	actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity							160.829283	KEEP	31	29	-1	65	75	31	29	-1	166.830738	65	75	0.307692	1	0	0	0	0	1	0	0	0	--	--		0	T			SIPA1L1_uc001xmt.2_Missense_Mutation_p.H333Y|SIPA1L1_uc001xmu.2_Missense_Mutation_p.H333Y|SIPA1L1_uc001xmv.2_Missense_Mutation_p.H333Y	25	GBM-06-0152-TP	p.H333Y	C	GTGCTTTGCCCACTATGATGT	NM_015556	NP_056371	72055586	O43166	SI1L1_HUMAN	0		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	2	1345	+	T	T			Missense_Mutation	333						
SIPA1L1	0	broad.mit.edu	GRCh37	14	72055814	72055814	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000555818.1:c.1225G>A	p.Glu409Lys	p.E409K	ENST00000555818	NM_015556.1	409	Gag/Aag	0			1			A	E/K	uc001xms.2	protein_coding	YES	CCDS9807.1			1225/5415									ovary(3)|breast(1)	4	c.(1225-1227)GAG>AAG			hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF10	signal-induced proliferation-associated 1 like				ENSP00000450832		22-Feb									COSM3401447	22-Feb	.		ENST00000555818	Transcript			actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	ENSG00000197555	g.chr14:72055814G>A	20284			MODERATE		1.545	low	getma.org/?cm=msa&ty=f&p=SI1L1_HUMAN&rb=401&re=600&var=E409K	NA	getma.org/?cm=var&var=hg19,14,72055814,G,A&fts=all	E409K	--	--	1																																		SIPA1L1_uc001xmt.2_Missense_Mutation_p.E409K|SIPA1L1_uc001xmu.2_Missense_Mutation_p.E409K|SIPA1L1_uc001xmv.2_Missense_Mutation_p.E409K	1	1		benign(0.03)	p.E409K	NM_015556	NP_056371		deleterious(0.01)	1	SI1L1_HUMAN	SIPA1L1	HGNC	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	G3V4Z3_HUMAN		2	1573	+			UPI00000443CB	409					SNV	SIPA1L1,missense_variant,p.Glu409Lys,ENST00000555818,NM_015556.1,NM_001284247.1;SIPA1L1,missense_variant,p.Glu409Lys,ENST00000358550,NM_001284246.1;SIPA1L1,missense_variant,p.Glu409Lys,ENST00000381232,NM_001284245.1;SIPA1L1,downstream_gene_variant,,ENST00000557151,;SIPA1L1,downstream_gene_variant,,ENST00000555989,;SIPA1L1,downstream_gene_variant,,ENST00000554362,;SIPA1L1,downstream_gene_variant,,ENST00000555652,;	uc001xms.2	c.1225G>A	1573/7831	2	2			c.1225G>A						14	SNP	c.(1225-1227)GAG>AAG	36	36			ovary(3)|breast(1)	4	Broad	signal-induced proliferation-associated 1 like			72055814		0.458	ENSG00000197555	14105	g.chr14:72055814G>A	actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity							122.790323	KEEP	21	20	-1	22	27	21	20	-1	122.881645	22	27	0.465116	1	0	0	0	0	1	0	0	0	--	--		0	A			SIPA1L1_uc001xmt.2_Missense_Mutation_p.E409K|SIPA1L1_uc001xmu.2_Missense_Mutation_p.E409K|SIPA1L1_uc001xmv.2_Missense_Mutation_p.E409K	125	GBM-12-3649-TP	p.E409K	G	TAAAAGCAATGAGCTTGTAAT	NM_015556	NP_056371	72055814	O43166	SI1L1_HUMAN	0		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	2	1573	+	A	A			Missense_Mutation	409						
SIPA1L1	0	broad.mit.edu	GRCh37	14	72176033	72176033	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01	TCGA-28-5209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000555818.1:c.3923G>A	p.Arg1308His	p.R1308H	ENST00000555818	NM_015556.1	1308	cGc/cAc	0			1			A	R/H	uc001xms.2	protein_coding	YES	CCDS9807.1			3923/5415									ovary(3)|breast(1)	4	c.(3922-3924)CGC>CAC			hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF10	signal-induced proliferation-associated 1 like				ENSP00000450832		15/22	8.24E-06					1.50E-05			rs773744188,COSM3401448	15/22	.		ENST00000555818	Transcript			actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	ENSG00000197555	g.chr14:72176033G>A	20284			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=SI1L1_HUMAN&rb=1217&re=1416&var=R1308H	NA	getma.org/?cm=var&var=hg19,14,72176033,G,A&fts=all	R1308H	--	--	1																																		SIPA1L1_uc001xmt.2_Missense_Mutation_p.R1287H|SIPA1L1_uc001xmu.2_Missense_Mutation_p.R1287H|SIPA1L1_uc001xmv.2_Missense_Mutation_p.R1308H|SIPA1L1_uc010ttm.1_Missense_Mutation_p.R762H|SIPA1L1_uc001xmw.2_Missense_Mutation_p.R73H	0,1	1		benign(0.003)	p.R1308H	NM_015556	NP_056371		tolerated(0.13)	0,1	SI1L1_HUMAN	SIPA1L1	HGNC	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	G3V4Z3_HUMAN		15	4271	+			UPI00000443CB	1308			Ser-rich.		SNV	SIPA1L1,missense_variant,p.Arg1308His,ENST00000555818,NM_015556.1,NM_001284247.1;SIPA1L1,missense_variant,p.Arg1287His,ENST00000358550,NM_001284246.1;SIPA1L1,missense_variant,p.Arg1287His,ENST00000381232,NM_001284245.1;SIPA1L1,missense_variant,p.Arg762His,ENST00000537413,;SIPA1L1,non_coding_transcript_exon_variant,,ENST00000554874,;SIPA1L1,non_coding_transcript_exon_variant,,ENST00000554960,;	uc001xms.2	c.3923G>A	4271/7831	2	2			c.3923G>A						14	SNP	c.(3922-3924)CGC>CAC	35	35			ovary(3)|breast(1)	4	Broad	signal-induced proliferation-associated 1 like			72176033		0.537	ENSG00000197555	14105	g.chr14:72176033G>A	actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity							-33.139512	KEEP	4	0	-1	86	79	4	0	-1	6.8965	86	79	0.025	1	0	0	0	0	1	0	0	0	--	--		0	A			SIPA1L1_uc001xmt.2_Missense_Mutation_p.R1287H|SIPA1L1_uc001xmu.2_Missense_Mutation_p.R1287H|SIPA1L1_uc001xmv.2_Missense_Mutation_p.R1308H|SIPA1L1_uc010ttm.1_Missense_Mutation_p.R762H|SIPA1L1_uc001xmw.2_Missense_Mutation_p.R73H	218	GBM-28-5209-TP	p.R1308H	G	GATGGGGACCGCACAGAATCC	NM_015556	NP_056371	72176033	O43166	SI1L1_HUMAN	0		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	15	4271	+	A	A			Missense_Mutation	1308			Ser-rich.			
SIPA1L2	57568	broad.mit.edu	GRCh37	1	232574923	232574923	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6391-01	TCGA-06-6391-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366630.1:c.3962C>T	p.Ser1321Phe	p.S1321F	ENST00000366630		1321	tCc/tTc	0			1			A	S/F	uc001hvg.2	protein_coding		CCDS41474.1			3962/5169									ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6	c.(3961-3963)TCC>TTC			hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF7	signal-induced proliferation-associated 1 like				ENSP00000262861		13/21										13/21	.		ENST00000262861	Transcript			regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	ENSG00000116991	g.chr1:232574923G>A	23800			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=SI1L2_HUMAN&rb=1061&re=1379&var=S1321F	NA	getma.org/?cm=var&var=hg19,1,232574923,G,A&fts=all	S1321F	--	--	1																																		SIPA1L2_uc001hvf.2_Missense_Mutation_p.S395F				benign(0.372)	p.S1321F	NM_020808	NP_065859		deleterious(0.02)		SI1L2_HUMAN	SIPA1L2	HGNC	Q9P2F8	SI1L2_HUMAN					13	4120	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	UPI00001D7D6A	1321			Ser-rich.		SNV	SIPA1L2,missense_variant,p.Ser1321Phe,ENST00000366630,;SIPA1L2,missense_variant,p.Ser1321Phe,ENST00000262861,NM_020808.3;SIPA1L2,missense_variant,p.Ser395Phe,ENST00000308942,;	uc001hvg.2	c.3962C>T	4189/6555	2	2			c.3962C>T						1	SNP	c.(3961-3963)TCC>TTC	20	20			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6	Broad	signal-induced proliferation-associated 1 like			232574923		0.602	ENSG00000116991	14106	g.chr1:232574923G>A	regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity							38.897599	KEEP	9	8	-1	27	24	9	8	-1	42.305268	27	24	0.25	1	0	0	0	0	1	0	0	0	--	--		0	A			SIPA1L2_uc001hvf.2_Missense_Mutation_p.S395F	107	GBM-06-6391-TP	p.S1321F	G	GGAGATGGTGGACGCGTAGCC	NM_020808	NP_065859	232574923	Q9P2F8	SI1L2_HUMAN	0			13	4120	-	A	A		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	Missense_Mutation	1321			Ser-rich.			
SIPA1L2	0	broad.mit.edu	GRCh37	1	232561420	232561420	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-5136-01	TCGA-26-5136-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262861.4:c.4545C>T	p.Asn1515=	p.N1515=	ENST00000262861	NM_020808.3	1515	aaC/aaT	0	A:0.0002		1			A	N	uc001hvg.2	protein_coding		CCDS41474.1			4545/5169									ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6	c.(4543-4545)AAC>AAT			Pfam_domain:PF11881,hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF7	signal-induced proliferation-associated 1 like			A:0	ENSP00000262861		16/21	3.30E-05	0.000115	9.42E-05	0.00012		1.60E-05			rs370081594,COSM1998945,COSM3400465	16/21	.		ENST00000262861	Transcript			regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	ENSG00000116991	g.chr1:232561420G>A	23800			LOW								--	--	1																																		SIPA1L2_uc001hvf.2_Silent_p.N589N	0,1,1				p.N1515N	NM_020808	NP_065859			0,1,1	SI1L2_HUMAN	SIPA1L2	HGNC	Q9P2F8	SI1L2_HUMAN					16	4703	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	UPI00001D7D6A	1515					SNV	SIPA1L2,synonymous_variant,p.=,ENST00000366630,;SIPA1L2,synonymous_variant,p.=,ENST00000262861,NM_020808.3;SIPA1L2,synonymous_variant,p.=,ENST00000308942,;	uc001hvg.2	c.4545C>T	4772/6555	1	1			c.4545C>T						1	SNP	c.(4543-4545)AAC>AAT	52	52			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6	Broad	signal-induced proliferation-associated 1 like			232561420		0.642	ENSG00000116991	14106	g.chr1:232561420G>A	regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity							48.867651	KEEP	7	16	-1	26	25	7	16	-1	51.158134	26	25	0.30303	1	0	0	0	0	0	0	1	0	--	--		0	A			SIPA1L2_uc001hvf.2_Silent_p.N589N	185	GBM-26-5136-TP	p.N1515N	G	ACAGAATGTCGTTGGGCAGGG	NM_020808	NP_065859	232561420	Q9P2F8	SI1L2_HUMAN	0			16	4703	-	A	A		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	Silent	1515						
SIPA1L2	0	broad.mit.edu	GRCh37	1	232626679	232626679	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-26-5136-01	TCGA-26-5136-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262861.4:c.1747C>T	p.Arg583Ter	p.R583*	ENST00000262861	NM_020808.3	583	Cga/Tga	0			1			A	R/*	uc001hvg.2	protein_coding		CCDS41474.1			1747/5169									ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6	c.(1747-1749)CGA>TGA			Superfamily_domains:0043732,hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF7	signal-induced proliferation-associated 1 like				ENSP00000262861		21-Mar									COSM1265629	21-Mar	.		ENST00000262861	Transcript			regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	ENSG00000116991	g.chr1:232626679G>A	23800			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,232626679,G,A&fts=all	R583*	--	--	1																																			1				p.R583*	NM_020808	NP_065859			1	SI1L2_HUMAN	SIPA1L2	HGNC	Q9P2F8	SI1L2_HUMAN					3	1905	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	UPI00001D7D6A	583					SNV	SIPA1L2,stop_gained,p.Arg583Ter,ENST00000366630,;SIPA1L2,stop_gained,p.Arg583Ter,ENST00000262861,NM_020808.3;SIPA1L2,non_coding_transcript_exon_variant,,ENST00000486472,;	uc001hvg.2	c.1747C>T	1974/6555	5	1			c.1747C>T						1	SNP	c.(1747-1749)CGA>TGA	56	56			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6	Broad	signal-induced proliferation-associated 1 like			232626679		0.463	ENSG00000116991	14106	g.chr1:232626679G>A	regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity							194.284886	KEEP	55	35	-1	68	75	55	35	-1	197.447331	68	75	0.364103	1	0	0	0	0	0	1	0	0	--	--		0	A				185	GBM-26-5136-TP	p.R583*	G	GAAGCCTGTCGCAAACACTGA	NM_020808	NP_065859	232626679	Q9P2F8	SI1L2_HUMAN	0			3	1905	-	A	A		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	Nonsense_Mutation	583						
SIPA1L2	0	broad.mit.edu	GRCh37	1	232615447	232615447	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-27-1835-01	TCGA-27-1835-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262861.4:c.2011A>G	p.Thr671Ala	p.T671A	ENST00000262861	NM_020808.3	671	Acc/Gcc	0			1			C	T/A	uc001hvg.2	protein_coding		CCDS41474.1			2011/5169									ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6	c.(2011-2013)ACC>GCC			Superfamily_domains:0043732,Pfam_domain:PF02145,PROSITE_profiles:PS50085,hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF7	signal-induced proliferation-associated 1 like				ENSP00000262861		21-May									COSM2157268	21-May	.		ENST00000262861	Transcript			regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	ENSG00000116991	g.chr1:232615447T>C	23800			MODERATE		1.44	low	getma.org/?cm=msa&ty=f&p=SI1L2_HUMAN&rb=624&re=812&var=T671A	getma.org/pdb.php?prot=SI1L2_HUMAN&from=624&to=812&var=T671A	getma.org/?cm=var&var=hg19,1,232615447,T,C&fts=all	T671A	--	--	1																																			1			probably_damaging(0.988)	p.T671A	NM_020808	NP_065859		deleterious(0.02)	1	SI1L2_HUMAN	SIPA1L2	HGNC	Q9P2F8	SI1L2_HUMAN					5	2169	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	UPI00001D7D6A	671			Rap-GAP.		SNV	SIPA1L2,missense_variant,p.Thr671Ala,ENST00000366630,;SIPA1L2,missense_variant,p.Thr671Ala,ENST00000262861,NM_020808.3;	uc001hvg.2	c.2011A>G	2238/6555	4	4			c.2011A>G						1	SNP	c.(2011-2013)ACC>GCC	36	36			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6	Broad	signal-induced proliferation-associated 1 like			232615447		0.448	ENSG00000116991	14106	g.chr1:232615447T>C	regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity							163.531103	KEEP	14	37	-1	41	41	14	37	-1	164.87049	41	41	0.386555	1	0	0	0	0	1	0	0	0	--	--		0	C				194	GBM-27-1835-TP	p.T671A	T	TTGTATGTGGTATAGAGAGAG	NM_020808	NP_065859	232615447	Q9P2F8	SI1L2_HUMAN	0			5	2169	-	C	C		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	Missense_Mutation	671			Rap-GAP.			
SIPA1L2	0	broad.mit.edu	GRCh37	1	232649623	232649623	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262861.4:c.1463G>A	p.Arg488His	p.R488H	ENST00000262861	NM_020808.3	488	cGc/cAc	0		T:0	1	T:0		T	R/H	uc001hvg.2	protein_coding		CCDS41474.1			1463/5169									ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6	c.(1462-1464)CGC>CAC			Superfamily_domains:0043732,hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF7	signal-induced proliferation-associated 1 like		T:0		ENSP00000262861	T:0	21-Jan	8.28E-06							9.77E-05	rs569418675,COSM3400467	21-Jan	.		ENST00000262861	Transcript		T:0.0002	regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	ENSG00000116991	g.chr1:232649623C>T	23800			MODERATE		1.53	low	getma.org/?cm=msa&ty=f&p=SI1L2_HUMAN&rb=401&re=600&var=R488H	NA	getma.org/?cm=var&var=hg19,1,232649623,C,T&fts=all	R488H	--	--	1																																			0,1			benign(0.075)	p.R488H	NM_020808	NP_065859	T:0.001	tolerated(0.19)	0,1	SI1L2_HUMAN	SIPA1L2	HGNC	Q9P2F8	SI1L2_HUMAN					1	1621	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	UPI00001D7D6A	488					SNV	SIPA1L2,missense_variant,p.Arg488His,ENST00000366630,;SIPA1L2,missense_variant,p.Arg488His,ENST00000262861,NM_020808.3;	uc001hvg.2	c.1463G>A	1690/6555	1	1			c.1463G>A						1	SNP	c.(1462-1464)CGC>CAC	13	13			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6	Broad	signal-induced proliferation-associated 1 like			232649623		0.453	ENSG00000116991	14106	g.chr1:232649623C>T	regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity							-126.412767	KEEP	2	6	-1	265	305	2	6	-1	7.083315	265	305	0.012245	1	0	0	0	0	1	0	0	0	--	--		0	T				271	GBM-76-4932-TP	p.R488H	C	GAAGAATTTGCGGTAATAATA	NM_020808	NP_065859	232649623	Q9P2F8	SI1L2_HUMAN	0			1	1621	-	T	T		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	Missense_Mutation	488						
SIPA1L2	57568		GRCh37	1	232619633	232619633	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000366630.1:c.1886C>T	p.Thr629Met	p.T629M	ENST00000366630		629	aCg/aTg	0																																																																																																																																																																																																																																												
SIPA1L3	23094	broad.mit.edu	GRCh37	19	38590640	38590640	+	synonymous_variant	Silent	SNP	G	G	A	rs142598144		TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222345.6:c.1704G>A	p.Thr568=	p.T568=	ENST00000222345	NM_015073.1	568	acG/acA	0	A:0		1			A	T	uc002ohk.2	protein_coding	YES	CCDS33007.1			1704/5346									ovary(1)|central_nervous_system(1)	2	c.(1702-1704)ACG>ACA			hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF15,Superfamily_domains:0043732	signal-induced proliferation-associated 1 like			A:0.0002	ENSP00000222345		22-May	9.88E-05					0.00012	0.0011	0.000182	rs142598144,COSM3404175	22-May	.		ENST00000222345	Transcript			regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	ENSG00000105738	g.chr19:38590640G>A	23801			LOW								--	--	1																																			0,1	1			p.T568T	NM_015073	NP_055888			0,1	SI1L3_HUMAN	SIPA1L3	HGNC	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		Q8IUV1_HUMAN		5	2213	+			UPI00001D8160	568					SNV	SIPA1L3,synonymous_variant,p.=,ENST00000222345,NM_015073.1;SIPA1L3,synonymous_variant,p.=,ENST00000595384,;	uc002ohk.2	c.1704G>A	2213/7987	2	2			c.1704G>A						19	SNP	c.(1702-1704)ACG>ACA	44	44			ovary(1)|central_nervous_system(1)	2	Broad	signal-induced proliferation-associated 1 like			38590640		0.607	ENSG00000105738	14107	g.chr19:38590640G>A	regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity							263.442838	KEEP	48	43	-1	19	26	48	43	-1	267.161632	19	26	0.68595	1	0	0	0	0	0	0	1	0	--	--		0	A				102	GBM-06-5858-TP	p.T568T	G	AAGATGCTACGCCCACAGCCA	NM_015073	NP_055888	38590640	O60292	SI1L3_HUMAN	0	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		5	2213	+	A	A			Silent	568						
SIPA1L3	0	broad.mit.edu	GRCh37	19	38572329	38572329	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-26-5135-01	TCGA-26-5135-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222345.6:c.124C>T	p.Gln42Ter	p.Q42*	ENST00000222345	NM_015073.1	42	Cag/Tag	0			1			T	Q/*	uc002ohk.2	protein_coding	YES	CCDS33007.1			124/5346									ovary(1)|central_nervous_system(1)	2	c.(124-126)CAG>TAG			hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF15	signal-induced proliferation-associated 1 like				ENSP00000222345		22-Mar									COSM2157065	22-Mar	.		ENST00000222345	Transcript			regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	ENSG00000105738	g.chr19:38572329C>T	23801			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,19,38572329,C,T&fts=all	Q42*	--	--	1																																			1	1			p.Q42*	NM_015073	NP_055888			1	SI1L3_HUMAN	SIPA1L3	HGNC	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		Q8IUV1_HUMAN		3	633	+			UPI00001D8160	42					SNV	SIPA1L3,stop_gained,p.Gln42Ter,ENST00000222345,NM_015073.1;SIPA1L3,downstream_gene_variant,,ENST00000476317,;	uc002ohk.2	c.124C>T	633/7987	5	2			c.124C>T						19	SNP	c.(124-126)CAG>TAG	35	35			ovary(1)|central_nervous_system(1)	2	Broad	signal-induced proliferation-associated 1 like			38572329		0.572	ENSG00000105738	14107	g.chr19:38572329C>T	regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity							34.332784	KEEP	4	12	-1	19	14	4	12	-1	35.494875	19	14	0.325581	1	0	0	0	0	0	1	0	0	--	--		0	T				184	GBM-26-5135-TP	p.Q42*	C	ATTCTGGGCCCAGAATGGCAG	NM_015073	NP_055888	38572329	O60292	SI1L3_HUMAN	0	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		3	633	+	T	T			Nonsense_Mutation	42						
SIPA1L3	0	broad.mit.edu	GRCh37	19	38655177	38655177	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-28-1753-01	TCGA-28-1753-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222345.6:c.3839G>T	p.Ser1280Ile	p.S1280I	ENST00000222345	NM_015073.1	1280	aGc/aTc	0			1			T	S/I	uc002ohk.2	protein_coding	YES	CCDS33007.1			3839/5346									ovary(1)|central_nervous_system(1)	2	c.(3838-3840)AGC>ATC			Low_complexity_(Seg):seg,hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF15	signal-induced proliferation-associated 1 like				ENSP00000222345		15/22									COSM3404177	15/22	.		ENST00000222345	Transcript			regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	ENSG00000105738	g.chr19:38655177G>T	23801			MODERATE		2.05	medium	getma.org/?cm=msa&ty=f&p=SI1L3_HUMAN&rb=1229&re=1428&var=S1280I	NA	getma.org/?cm=var&var=hg19,19,38655177,G,T&fts=all	S1280I	--	--	1																																			1	1		probably_damaging(0.993)	p.S1280I	NM_015073	NP_055888		deleterious(0)	1	SI1L3_HUMAN	SIPA1L3	HGNC	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		Q8IUV1_HUMAN		15	4348	+			UPI00001D8160	1280					SNV	SIPA1L3,missense_variant,p.Ser1280Ile,ENST00000222345,NM_015073.1;SIPA1L3,upstream_gene_variant,,ENST00000595495,;	uc002ohk.2	c.3839G>T	4348/7987	1	1			c.3839G>T						19	SNP	c.(3838-3840)AGC>ATC	8	8			ovary(1)|central_nervous_system(1)	2	Broad	signal-induced proliferation-associated 1 like			38655177		0.607	ENSG00000105738	14107	g.chr19:38655177G>T	regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity							25.734388	KEEP	15	20	0.428571429	32	31	15	20	0.428571429	27.025543	32	31	0.294118	1	0	0	0	0	1	0	0	0	--	--		0	T				207	GBM-28-1753-TP	p.S1280I	G	AACGCATCCAGCAGCCACAGC	NM_015073	NP_055888	38655177	O60292	SI1L3_HUMAN	0	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		15	4348	+	T	T			Missense_Mutation	1280						
SIRPA	140885	broad.mit.edu	GRCh37	20	1895993	1895993	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0213-01	TCGA-06-0213-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358771.4:c.328A>G	p.Asn110Asp	p.N110D	ENST00000358771	NM_001040023.1	110	Aac/Gac	0			1			G	N/D	uc002wfq.2	protein_coding		CCDS13022.1			328/1515									ovary(1)	1	c.(328-330)AAC>GAC			PROSITE_profiles:PS50835,hmmpanther:PTHR19971,hmmpanther:PTHR19971:SF4,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726	signal-regulatory protein alpha precursor				ENSP00000348307		9-Mar									COSM2150831,COSM2150832	9-Mar	.		ENST00000356025	Transcript			blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	ENSG00000198053	g.chr20:1895993A>G	9662			MODERATE		1.58	low	getma.org/?cm=msa&ty=f&p=SHPS1_HUMAN&rb=33&re=144&var=N110D	getma.org/pdb.php?prot=SHPS1_HUMAN&from=33&to=144&var=N110D	getma.org/?cm=var&var=hg19,20,1895993,A,G&fts=all	N110D	--	--	1																																		SIRPA_uc010zps.1_Missense_Mutation_p.N90D|SIRPA_uc002wfr.2_Missense_Mutation_p.N110D|SIRPA_uc002wfs.2_Missense_Mutation_p.N110D|SIRPA_uc002wft.2_Missense_Mutation_p.N110D	1,1			benign(0.225)	p.N110D	NM_001040022	NP_001035111		tolerated(0.26)	1,1	SHPS1_HUMAN	SIRPA	HGNC	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	B4DP97_HUMAN		3	688	+			UPI0000073ADE	110			Ig-like V-type.|Extracellular (Potential).		SNV	SIRPA,missense_variant,p.Asn110Asp,ENST00000358771,NM_001040023.1;SIRPA,missense_variant,p.Asn110Asp,ENST00000400068,NM_001040022.1;SIRPA,missense_variant,p.Asn110Asp,ENST00000356025,NM_080792.2;	uc002wfq.2	c.328A>G	351/3867	4	4			c.328A>G						20	SNP	c.(328-330)AAC>GAC	32	32			ovary(1)	1	Broad	signal-regulatory protein alpha precursor			1895993		0.502	ENSG00000198053	14108	g.chr20:1895993A>G	blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	GBM(155;1668 1920 5945 42733 48121)			GBM(155;1668 1920 5945 42733 48121)			151.439593	KEEP	21	31	-1	31	36	21	31	-1	151.526603	31	36	0.466667	1	0	0	0	0	1	0	0	0	--	--		0	G			SIRPA_uc010zps.1_Missense_Mutation_p.N90D|SIRPA_uc002wfr.2_Missense_Mutation_p.N110D|SIRPA_uc002wfs.2_Missense_Mutation_p.N110D|SIRPA_uc002wft.2_Missense_Mutation_p.N110D	49	GBM-06-0213-TP	p.N110D	A	CCGCATCGGTAACATCACCCC	NM_001040022	NP_001035111	1895993	P78324	SHPS1_HUMAN	0		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	3	688	+	G	G			Missense_Mutation	110			Ig-like V-type.|Extracellular (Potential).			
SIRPA	0	broad.mit.edu	GRCh37	20	1915375	1915375	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-27-1838-01	TCGA-27-1838-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356025.3:c.1241A>T	p.Glu414Val	p.E414V	ENST00000356025	NM_080792.2	414	gAg/gTg	0			1			T	E/V	uc002wfq.2	protein_coding		CCDS13022.1			1241/1515									ovary(1)	1	c.(1240-1242)GAG>GTG				signal-regulatory protein alpha precursor				ENSP00000348307		9-Aug									COSM3404960,COSM3404961	9-Aug	.		ENST00000356025	Transcript			blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	ENSG00000198053	g.chr20:1915375A>T	9662			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=SHPS1_HUMAN&rb=375&re=502&var=E414V	NA	getma.org/?cm=var&var=hg19,20,1915375,A,T&fts=all	E414V	--	--	1																																		SIRPA_uc010zps.1_Missense_Mutation_p.E394V|SIRPA_uc002wfr.2_Missense_Mutation_p.E414V|SIRPA_uc002wfs.2_Missense_Mutation_p.E414V|SIRPA_uc002wft.2_Missense_Mutation_p.E414V	1,1			benign(0.19)	p.E414V	NM_001040022	NP_001035111		deleterious(0)	1,1	SHPS1_HUMAN	SIRPA	HGNC	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	B4DP97_HUMAN		8	1601	+			UPI0000073ADE	414			Cytoplasmic (Potential).		SNV	SIRPA,missense_variant,p.Glu414Val,ENST00000358771,NM_001040023.1;SIRPA,missense_variant,p.Glu414Val,ENST00000400068,NM_001040022.1;SIRPA,missense_variant,p.Glu414Val,ENST00000356025,NM_080792.2;	uc002wfq.2	c.1241A>T	1264/3867	1	1			c.1241A>T						20	SNP	c.(1240-1242)GAG>GTG	6	6			ovary(1)	1	Broad	signal-regulatory protein alpha precursor			1915375		0.338	ENSG00000198053	14108	g.chr20:1915375A>T	blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	GBM(155;1668 1920 5945 42733 48121)			GBM(155;1668 1920 5945 42733 48121)			-0.528032	KEEP	9	12	-1	138	111	9	12	-1	40.226165	138	111	0.079646	1	0	0	0	0	1	0	0	0	--	--		0	T			SIRPA_uc010zps.1_Missense_Mutation_p.E394V|SIRPA_uc002wfr.2_Missense_Mutation_p.E414V|SIRPA_uc002wfs.2_Missense_Mutation_p.E414V|SIRPA_uc002wft.2_Missense_Mutation_p.E414V	197	GBM-27-1838-TP	p.E414V	A	CATGAGCCCGAGAAGAATGCC	NM_001040022	NP_001035111	1915375	P78324	SHPS1_HUMAN	0		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	8	1601	+	T	T			Missense_Mutation	414			Cytoplasmic (Potential).			
SIRPB1	10326	broad.mit.edu	GRCh37	20	1600539	1600539	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-6389-01	TCGA-06-6389-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381605.4:c.52A>T	p.Thr18Ser	p.T18S	ENST00000381605	NM_006065.3	18	Acg/Tcg	0			1			A	T/S	uc010gai.2	protein_coding	YES	CCDS13019.1			52/1197									ovary(1)	1	c.(52-54)ACG>TCG			Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR19971:SF6,hmmpanther:PTHR19971,PROSITE_profiles:PS50835	signal-regulatory protein beta 1 isoform 1				ENSP00000371018		6-Jan										6-Jan	.		ENST00000381605	Transcript			cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	ENSG00000101307	g.chr20:1600539T>A	15928			MODERATE		1.645	low	getma.org/?cm=msa&ty=f&p=SIRBL_HUMAN&rb=1&re=31&var=T18S	NA	getma.org/?cm=var&var=hg19,20,1600539,T,A&fts=all	T18S	--	--	1																																		SIRPB1_uc002wfk.3_Missense_Mutation_p.T18S|SIRPB1_uc002wfl.3_Missense_Mutation_p.T18S		1		benign(0.055)	p.T18S	NM_006065	NP_006056		tolerated(0.06)		SIRB1_HUMAN	SIRPB1	HGNC	O00241	SIRB1_HUMAN					1	151	-			UPI000036700F	18					SNV	SIRPB1,missense_variant,p.Thr18Ser,ENST00000381605,NM_006065.3;SIRPB1,missense_variant,p.Thr18Ser,ENST00000279477,NM_001135844.2;SIRPB1,missense_variant,p.Thr18Ser,ENST00000381603,NM_001083910.2;SIRPB1,missense_variant,p.Thr18Ser,ENST00000568365,;RP4-576H24.4,missense_variant,p.Thr18Ser,ENST00000564763,;SIRPB1,non_coding_transcript_exon_variant,,ENST00000381596,;SIRPB1,non_coding_transcript_exon_variant,,ENST00000565775,;	uc010gai.2	c.52A>T	117/3241	1	1			c.52A>T						20	SNP	c.(52-54)ACG>TCG	54	54			ovary(1)	1	Broad	signal-regulatory protein beta 1 isoform 1			1600539		0.567	ENSG00000101307	14109	g.chr20:1600539T>A	cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding							31.237289	KEEP	10	9	-1	44	55	10	9	-1	41.796294	44	55	0.163265	1	0	0	0	0	1	0	0	0	--	--		0	A			SIRPB1_uc002wfk.3_Missense_Mutation_p.T18S|SIRPB1_uc002wfl.3_Missense_Mutation_p.T18S	105	GBM-06-6389-TP	p.T18S	T	AGCAGTAGCGTCATCAGCAGG	NM_006065	NP_006056	1600539	O00241	SIRB1_HUMAN	0			1	151	-	A	A			Missense_Mutation	18						
SIRPB1	0	broad.mit.edu	GRCh37	20	1600544	1600544	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-0813-01	TCGA-14-0813-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381605.4:c.47T>C	p.Leu16Pro	p.L16P	ENST00000381605	NM_006065.3	16	cTg/cCg	0			1			G	L/P	uc010gai.2	protein_coding	YES	CCDS13019.1			47/1197									ovary(1)	1	c.(46-48)CTG>CCG			Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR19971:SF6,hmmpanther:PTHR19971,PROSITE_profiles:PS50835	signal-regulatory protein beta 1 isoform 1				ENSP00000371018		6-Jan									COSM3404944,COSM3404945	6-Jan	.		ENST00000381605	Transcript			cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	ENSG00000101307	g.chr20:1600544A>G	15928			MODERATE		2.36	medium	getma.org/?cm=msa&ty=f&p=SIRBL_HUMAN&rb=1&re=31&var=L16P	NA	getma.org/?cm=var&var=hg19,20,1600544,A,G&fts=all	L16P	--	--	1																																		SIRPB1_uc002wfk.3_Missense_Mutation_p.L16P|SIRPB1_uc002wfl.3_Missense_Mutation_p.L16P	1,1	1		probably_damaging(0.949)	p.L16P	NM_006065	NP_006056		deleterious(0.01)	1,1	SIRB1_HUMAN	SIRPB1	HGNC	O00241	SIRB1_HUMAN					1	146	-			UPI000036700F	16					SNV	SIRPB1,missense_variant,p.Leu16Pro,ENST00000381605,NM_006065.3;SIRPB1,missense_variant,p.Leu16Pro,ENST00000279477,NM_001135844.2;SIRPB1,missense_variant,p.Leu16Pro,ENST00000381603,NM_001083910.2;SIRPB1,missense_variant,p.Leu16Pro,ENST00000568365,;RP4-576H24.4,missense_variant,p.Leu16Pro,ENST00000564763,;SIRPB1,non_coding_transcript_exon_variant,,ENST00000381596,;SIRPB1,non_coding_transcript_exon_variant,,ENST00000565775,;	uc010gai.2	c.47T>C	112/3241	4	4			c.47T>C						20	SNP	c.(46-48)CTG>CCG	30	30			ovary(1)	1	Broad	signal-regulatory protein beta 1 isoform 1			1600544		0.572	ENSG00000101307	14109	g.chr20:1600544A>G	cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding							-5.735293	KEEP	7	2	-1	66	49	7	2	-1	14.23824	66	49	0.060606	1	0	0	0	0	1	0	0	0	--	--		0	G			SIRPB1_uc002wfk.3_Missense_Mutation_p.L16P|SIRPB1_uc002wfl.3_Missense_Mutation_p.L16P	138	GBM-14-0813-TP	p.L16P	A	TAGCGTCATCAGCAGGAAAGG	NM_006065	NP_006056	1600544	O00241	SIRB1_HUMAN	0			1	146	-	G	G			Missense_Mutation	16						
SIRPB1	10326		GRCh37	20	1552398	1552398	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000381605.4:c.719G>A	p.Arg240His	p.R240H	ENST00000381605	NM_006065.3	240	cGt/cAt	0																																																																																																																																																																																																																																												
SIRPG	0	broad.mit.edu	GRCh37	20	1616837	1616837	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-27-2524-01	TCGA-27-2524-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303415.3:c.745C>T	p.Arg249Ter	p.R249*	ENST00000303415	NM_018556.3	249	Cga/Tga	0			1			A	R/*	uc002wfm.1	protein_coding	YES	CCDS13020.2			745/1164									ovary(1)	1	c.(745-747)CGA>TGA			hmmpanther:PTHR19971,hmmpanther:PTHR19971:SF6,Gene3D:2.60.40.10,Superfamily_domains:SSF48726	signal-regulatory protein gamma isoform 1				ENSP00000305529		6-Mar	8.24E-06					1.50E-05			rs771536811,COSM3404947	6-Mar	.		ENST00000303415	Transcript			blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	ENSG00000089012	g.chr20:1616837G>A	15757			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,20,1616837,G,A&fts=all	R249*	--	--	1																																		SIRPG_uc002wfn.1_Nonsense_Mutation_p.R249*|SIRPG_uc002wfo.1_Intron|uc002wfp.1_Intron	0,1	1			p.R249*	NM_018556	NP_061026			0,1	SIRPG_HUMAN	SIRPG	HGNC	Q9P1W8	SIRPG_HUMAN					3	810	-			UPI00001AE5FD	249			Extracellular (Potential).		SNV	SIRPG,stop_gained,p.Arg216Ter,ENST00000381580,;SIRPG,stop_gained,p.Arg249Ter,ENST00000303415,NM_018556.3;SIRPG,stop_gained,p.Arg249Ter,ENST00000381583,NM_001039508.1;SIRPG,stop_gained,p.Arg249Ter,ENST00000216927,;SIRPG,intron_variant,,ENST00000344103,NM_080816.2;RP11-77C3.3,intron_variant,,ENST00000456177,;RP11-77C3.3,intron_variant,,ENST00000437384,;	uc002wfm.1	c.745C>T	810/1716	5	1			c.745C>T						20	SNP	c.(745-747)CGA>TGA	63	63			ovary(1)	1	Broad	signal-regulatory protein gamma isoform 1			1616837		0.622	ENSG00000089012	14112	g.chr20:1616837G>A	blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding							119.549003	KEEP	23	19	-1	44	26	23	19	-1	120.956411	44	26	0.375	1	0	0	0	0	0	1	0	0	--	--		0	A			SIRPG_uc002wfn.1_Nonsense_Mutation_p.R249*|SIRPG_uc002wfo.1_Intron|uc002wfp.1_Intron	202	GBM-27-2524-TP	p.R249*	G	CCTCTACCTCGGATGGCCTCA	NM_018556	NP_061026	1616837	Q9P1W8	SIRPG_HUMAN	0			3	810	-	A	A			Nonsense_Mutation	249			Extracellular (Potential).			
SIRPG	0	broad.mit.edu	GRCh37	20	1629729	1629729	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-4209-01	TCGA-32-4209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303415.3:c.399G>T	p.Lys133Asn	p.K133N	ENST00000303415	NM_018556.3	133	aaG/aaT	0			1			A	K/N	uc002wfm.1	protein_coding	YES	CCDS13020.2			399/1164									ovary(1)	1	c.(397-399)AAG>AAT			hmmpanther:PTHR19971,hmmpanther:PTHR19971:SF6,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	signal-regulatory protein gamma isoform 1				ENSP00000305529		6-Feb									COSM3404949	6-Feb	.		ENST00000303415	Transcript			blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	ENSG00000089012	g.chr20:1629729C>A	15757			MODERATE		2.875	medium	getma.org/?cm=msa&ty=f&p=SIRPG_HUMAN&rb=31&re=140&var=K133N	getma.org/pdb.php?prot=SIRPG_HUMAN&from=31&to=140&var=K133N	getma.org/?cm=var&var=hg19,20,1629729,C,A&fts=all	K133N	--	--	1																																		SIRPG_uc002wfn.1_Missense_Mutation_p.K133N|SIRPG_uc002wfo.1_Missense_Mutation_p.K133N	1	1		probably_damaging(0.965)	p.K133N	NM_018556	NP_061026		deleterious(0)	1	SIRPG_HUMAN	SIRPG	HGNC	Q9P1W8	SIRPG_HUMAN					2	464	-			UPI00001AE5FD	133			Extracellular (Potential).|Ig-like V-type.		SNV	SIRPG,missense_variant,p.Lys100Asn,ENST00000381580,;SIRPG,missense_variant,p.Lys133Asn,ENST00000303415,NM_018556.3;SIRPG,missense_variant,p.Lys133Asn,ENST00000381583,NM_001039508.1;SIRPG,missense_variant,p.Lys133Asn,ENST00000344103,NM_080816.2;SIRPG,missense_variant,p.Lys133Asn,ENST00000216927,;RP11-77C3.3,downstream_gene_variant,,ENST00000456177,;	uc002wfm.1	c.399G>T	464/1716	2	2			c.399G>T						20	SNP	c.(397-399)AAG>AAT	28	28			ovary(1)	1	Broad	signal-regulatory protein gamma isoform 1			1629729		0.493	ENSG00000089012	14112	g.chr20:1629729C>A	blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding							185.813562	KEEP	37	45	0.548780488	99	160	37	45	0.548780488	204.196359	99	160	0.241722	1	0	0	0	0	1	0	0	0	--	--		0	A			SIRPG_uc002wfn.1_Missense_Mutation_p.K133N|SIRPG_uc002wfo.1_Missense_Mutation_p.K133N	244	GBM-32-4209-TP	p.K133N	C	CTGGTCCAGACTTAAACTCCA	NM_018556	NP_061026	1629729	Q9P1W8	SIRPG_HUMAN	0			2	464	-	A	A			Missense_Mutation	133			Extracellular (Potential).|Ig-like V-type.			
SIRT2	0	broad.mit.edu	GRCh37	19	39371782	39371782	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-19-1790-01	TCGA-19-1790-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000249396.7:c.705T>G	p.Phe235Leu	p.F235L	ENST00000249396	NM_012237.3	235	ttT/ttG	0			1			C	F/L	uc002ojt.1	protein_coding	YES	CCDS12523.1			705/1170										0	c.(703-705)TTT>TTG			PROSITE_profiles:PS50305,hmmpanther:PTHR11085,hmmpanther:PTHR11085:SF3,Pfam_domain:PF02146,PIRSF_domain:PIRSF037938,Superfamily_domains:SSF52467	sirtuin 2 isoform 1				ENSP00000249396		16-Nov									COSM3404205	16-Nov	.		ENST00000249396	Transcript			cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding	ENSG00000068903	g.chr19:39371782A>C	10886			MODERATE		4.53	high	getma.org/?cm=msa&ty=f&p=SIR2_HUMAN&rb=65&re=340&var=F235L	getma.org/pdb.php?prot=SIR2_HUMAN&from=65&to=340&var=F235L	getma.org/?cm=var&var=hg19,19,39371782,A,C&fts=all	F235L	--	--	1																																		RINL_uc002ojq.2_5'Flank|RINL_uc010xuo.1_5'Flank|SIRT2_uc010egh.1_Missense_Mutation_p.F198L|SIRT2_uc010egi.1_Missense_Mutation_p.F198L|SIRT2_uc002ojs.1_Missense_Mutation_p.F215L|SIRT2_uc002oju.1_Missense_Mutation_p.F198L|SIRT2_uc010egj.1_Missense_Mutation_p.F198L|SIRT2_uc002ojv.1_Missense_Mutation_p.F233L	1	1		benign(0.157)	p.F235L	NM_012237	NP_036369		deleterious(0)	1	SIR2_HUMAN	SIRT2	HGNC	Q8IXJ6	SIRT2_HUMAN	Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)		F8WF57_HUMAN,E7EWX6_HUMAN,C9JZQ0_HUMAN,C9JR33_HUMAN,C9J3U7_HUMAN,B5MCS1_HUMAN		11	905	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		UPI0000070897	235			Deacetylase sirtuin-type.		SNV	SIRT2,missense_variant,p.Phe235Leu,ENST00000249396,NM_012237.3;SIRT2,missense_variant,p.Phe198Leu,ENST00000392081,NM_030593.2;SIRT2,missense_variant,p.Phe235Leu,ENST00000358931,NM_001193286.1;SIRT2,missense_variant,p.Phe198Leu,ENST00000414941,;RINL,upstream_gene_variant,,ENST00000340740,NM_001195833.1,NM_198445.3;RINL,upstream_gene_variant,,ENST00000591812,;RINL,upstream_gene_variant,,ENST00000598904,;SIRT2,downstream_gene_variant,,ENST00000407552,;SIRT2,3_prime_UTR_variant,,ENST00000420440,;SIRT2,non_coding_transcript_exon_variant,,ENST00000479290,;SIRT2,non_coding_transcript_exon_variant,,ENST00000462654,;RINL,upstream_gene_variant,,ENST00000589111,;SIRT2,downstream_gene_variant,,ENST00000443898,;SIRT2,upstream_gene_variant,,ENST00000496069,;RINL,upstream_gene_variant,,ENST00000598048,;RINL,upstream_gene_variant,,ENST00000596919,;RINL,upstream_gene_variant,,ENST00000599911,;	uc002ojt.1	c.705T>G	1007/2070	3	3			c.705T>G						19	SNP	c.(703-705)TTT>TTG	59	59				0	Broad	sirtuin 2 isoform 1			39371782		0.617	ENSG00000068903	14114	g.chr19:39371782A>C	cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding							-0.271709	KEEP	0	3	-1	18	18	0	3	-1	6.378266	18	18	0.060606	1	0	0	0	0	1	0	0	0	--	--		0	C			RINL_uc002ojq.2_5'Flank|RINL_uc010xuo.1_5'Flank|SIRT2_uc010egh.1_Missense_Mutation_p.F198L|SIRT2_uc010egi.1_Missense_Mutation_p.F198L|SIRT2_uc002ojs.1_Missense_Mutation_p.F215L|SIRT2_uc002oju.1_Missense_Mutation_p.F198L|SIRT2_uc010egj.1_Missense_Mutation_p.F198L|SIRT2_uc002ojv.1_Missense_Mutation_p.F233L	160	GBM-19-1790-TP	p.F235L	A	GGCTCTCACCAAAAAAGACGA	NM_012237	NP_036369	39371782	Q8IXJ6	SIRT2_HUMAN	0	Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)		11	905	-	C	C	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Missense_Mutation	235			Deacetylase sirtuin-type.			
SIRT3	23410	broad.mit.edu	GRCh37	11	233173	233173	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-2563-01	TCGA-06-2563-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382743.4:c.516T>G	p.Asp172Glu	p.D172E	ENST00000382743	NM_012239.5	172	gaT/gaG	0			1			C	D/E	uc001lok.3	protein_coding	YES	CCDS7691.1			516/1200									urinary_tract(1)	1	c.(514-516)GAT>GAG			PROSITE_profiles:PS50305,hmmpanther:PTHR11085:SF14,hmmpanther:PTHR11085,Pfam_domain:PF02146,Gene3D:3.30.1600.10,PIRSF_domain:PIRSF037938,Superfamily_domains:SSF52467	sirtuin 3 isoform a				ENSP00000372191		7-Mar									COSM2152837	7-Mar	.		ENST00000382743	Transcript			chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding	ENSG00000142082	g.chr11:233173A>C	14931			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=SIR3_HUMAN&rb=126&re=382&var=D172E	getma.org/pdb.php?prot=SIR3_HUMAN&from=126&to=382&var=D172E	getma.org/?cm=var&var=hg19,11,233173,A,C&fts=all	D172E	--	--	1																																		SIRT3_uc001loj.3_Missense_Mutation_p.D30E|SIRT3_uc010qvm.1_Missense_Mutation_p.D108E|SIRT3_uc010qvn.1_Missense_Mutation_p.D91E|SIRT3_uc010qvo.1_Missense_Mutation_p.D172E|SIRT3_uc010qvp.1_Missense_Mutation_p.D172E|SIRT3_uc010qvq.1_Missense_Mutation_p.D30E|SIRT3_uc009ybt.1_RNA	1	1		benign(0.004)	p.D172E	NM_012239	NP_036371		tolerated(0.05)	1	SIR3_HUMAN	SIRT3	HGNC	Q9NTG7	SIRT3_HUMAN		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)	E9PNA0_HUMAN,E9PM52_HUMAN		3	550	-		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	UPI0000073D3C	172			Deacetylase sirtuin-type.		SNV	SIRT3,missense_variant,p.Asp172Glu,ENST00000382743,NM_012239.5,NM_001017524.2;SIRT3,missense_variant,p.Asp91Glu,ENST00000525319,;SIRT3,missense_variant,p.Asp108Glu,ENST00000524564,;SIRT3,missense_variant,p.Asp172Glu,ENST00000532956,;SIRT3,missense_variant,p.Asp30Glu,ENST00000529382,;SIRT3,missense_variant,p.Asp30Glu,ENST00000528469,;PSMD13,upstream_gene_variant,,ENST00000532097,NM_002817.3;PSMD13,upstream_gene_variant,,ENST00000431206,NM_175932.2;PSMD13,upstream_gene_variant,,ENST00000352303,;PSMD13,upstream_gene_variant,,ENST00000528906,;SIRT3,downstream_gene_variant,,ENST00000525237,;SIRT3,downstream_gene_variant,,ENST00000525776,;SIRT3,non_coding_transcript_exon_variant,,ENST00000528702,;SIRT3,non_coding_transcript_exon_variant,,ENST00000531753,;SIRT3,3_prime_UTR_variant,,ENST00000532837,;SIRT3,3_prime_UTR_variant,,ENST00000526854,;SIRT3,3_prime_UTR_variant,,ENST00000529055,;SIRT3,3_prime_UTR_variant,,ENST00000530067,;SIRT3,intron_variant,,ENST00000529937,;PSMD13,upstream_gene_variant,,ENST00000525665,;PSMD13,upstream_gene_variant,,ENST00000382671,;PSMD13,upstream_gene_variant,,ENST00000527047,;PSMD13,upstream_gene_variant,,ENST00000534590,;PSMD13,upstream_gene_variant,,ENST00000529372,;SIRT3,upstream_gene_variant,,ENST00000534381,;	uc001lok.3	c.516T>G	619/2543	3	3			c.516T>G						11	SNP	c.(514-516)GAT>GAG	58	58			urinary_tract(1)	1	Broad	sirtuin 3 isoform a			233173		0.532	ENSG00000142082	14115	g.chr11:233173A>C	chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding							63.278244	KEEP	18	6	-1	22	16	18	6	-1	64.078266	22	16	0.37037	1	0	0	0	0	1	0	0	0	--	--		0	C			SIRT3_uc001loj.3_Missense_Mutation_p.D30E|SIRT3_uc010qvm.1_Missense_Mutation_p.D108E|SIRT3_uc010qvn.1_Missense_Mutation_p.D91E|SIRT3_uc010qvo.1_Missense_Mutation_p.D172E|SIRT3_uc010qvp.1_Missense_Mutation_p.D172E|SIRT3_uc010qvq.1_Missense_Mutation_p.D30E|SIRT3_uc009ybt.1_RNA	86	GBM-06-2563-TP	p.D172E	A	GGTACGGGAGATCGTACTGCT	NM_012239	NP_036371	233173	Q9NTG7	SIRT3_HUMAN	0		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)	3	550	-	C	C		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	Missense_Mutation	172			Deacetylase sirtuin-type.			
SIRT5	23408	broad.mit.edu	GRCh37	6	13588650	13588650	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000606117.1:c.203C>T	p.Pro68Leu	p.P68L	ENST00000606117	NM_012241.4	68	cCg/cTg	0			1			T	P/L	uc003nay.2	protein_coding	YES	CCDS4526.1			203/933									skin(2)|upper_aerodigestive_tract(1)	3	c.(202-204)CCG>CTG			Superfamily_domains:SSF52467,Pfam_domain:PF02146,Gene3D:3.30.1600.10,hmmpanther:PTHR11085,hmmpanther:PTHR11085:SF13,HAMAP:MF_01121,PROSITE_profiles:PS50305	sirtuin 5 isoform 1	Suramin(DB04786)			ENSP00000476228		10-Apr	6.59E-05		8.67E-05	0.000347		4.51E-05		6.07E-05	rs758365361,COSM3410607,COSM3410608	10-Apr	.		ENST00000606117	Transcript			chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding	ENSG00000124523	g.chr6:13588650C>T	14933			MODERATE		3.87	high	getma.org/?cm=msa&ty=f&p=SIR5_HUMAN&rb=41&re=309&var=P68L	getma.org/pdb.php?prot=SIR5_HUMAN&from=41&to=309&var=P68L	getma.org/?cm=var&var=hg19,6,13588650,C,T&fts=all	P68L	--	--	1																																		SIRT5_uc003naw.2_Missense_Mutation_p.P68L|SIRT5_uc003nax.2_Intron|SIRT5_uc011dit.1_Missense_Mutation_p.P68L	0,1,1	1		probably_damaging(0.915)	p.P68L	NM_012241	NP_036373		deleterious(0.03)	0,1,1	SIR5_HUMAN	SIRT5	HGNC	Q9NXA8	SIRT5_HUMAN	Epithelial(50;0.176)				4	499	+	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	UPI0000073EB3	68			NAD.|Deacetylase sirtuin-type.		SNV	SIRT5,missense_variant,p.Pro68Leu,ENST00000606117,NM_012241.4;SIRT5,missense_variant,p.Pro68Leu,ENST00000379262,NM_031244.3;SIRT5,missense_variant,p.Pro68Leu,ENST00000359782,NM_001193267.2;SIRT5,intron_variant,,ENST00000397350,NM_001242827.1;SIRT5,3_prime_UTR_variant,,ENST00000606427,;SIRT5,intron_variant,,ENST00000379250,;	uc003nay.2	c.203C>T	499/3922	2	2			c.203C>T						6	SNP	c.(202-204)CCG>CTG	36	36			skin(2)|upper_aerodigestive_tract(1)	3	Broad	sirtuin 5 isoform 1		Suramin(DB04786)	13588650		0.423	ENSG00000124523	14117	g.chr6:13588650C>T	chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding							147.847398	KEEP	20	26	-1	13	11	20	26	-1	149.349307	13	11	0.661538	1	0	0	0	0	1	0	0	0	--	--		0	T			SIRT5_uc003naw.2_Missense_Mutation_p.P68L|SIRT5_uc003nax.2_Intron|SIRT5_uc011dit.1_Missense_Mutation_p.P68L	102	GBM-06-5858-TP	p.P68L	C	AGTGGTGTTCCGACCTTCAGA	NM_012241	NP_036373	13588650	Q9NXA8	SIRT5_HUMAN	0	Epithelial(50;0.176)		4	499	+	T	T	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Missense_Mutation	68			NAD.|Deacetylase sirtuin-type.			
SIX4	51804		GRCh37	14	61180418	61180418	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000216513.4:c.2053C>G	p.Leu685Val	p.L685V	ENST00000216513	NM_017420.4	685	Ctt/Gtt	0																																																																																																																																																																																																																																												
SKAP2	8935	broad.mit.edu	GRCh37	7	26766511	26766511	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0644-01	TCGA-06-0644-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345317.2:c.584G>A	p.Arg195His	p.R195H	ENST00000345317	NM_003930.3	195	cGt/cAt	0		T:0	1	T:0		T	R/H	uc003syc.2	protein_coding	YES	CCDS5400.1			584/1080									pancreas(1)	1	c.(583-585)CGT>CAT			PROSITE_profiles:PS50003,hmmpanther:PTHR15129:SF2,hmmpanther:PTHR15129,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	src kinase associated phosphoprotein 2		T:0.001		ENSP00000005587	T:0	13-Jul									rs199985669,COSM184196	13-Jul	.		ENST00000345317	Transcript		T:0.0002	B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity	ENSG00000005020	g.chr7:26766511C>T	15687			MODERATE		2.945	medium	getma.org/?cm=msa&ty=f&p=SKAP2_HUMAN&rb=117&re=219&var=R195H	getma.org/pdb.php?prot=SKAP2_HUMAN&from=117&to=219&var=R195H	getma.org/?cm=var&var=hg19,7,26766511,C,T&fts=all	R195H	--	--	1																																		SKAP2_uc011jzi.1_Missense_Mutation_p.R23H|SKAP2_uc011jzj.1_Missense_Mutation_p.R180H	0,1	1		probably_damaging(0.926)	p.R195H	NM_003930	NP_003921	T:0	deleterious(0.02)	0,1	SKAP2_HUMAN	SKAP2	HGNC	O75563	SKAP2_HUMAN			B7Z5R3_HUMAN		7	877	-			UPI0000073C8C	195			PH.		SNV	SKAP2,missense_variant,p.Arg195His,ENST00000345317,NM_003930.3;SKAP2,missense_variant,p.Arg23His,ENST00000539623,;SKAP2,non_coding_transcript_exon_variant,,ENST00000489977,;SKAP2,non_coding_transcript_exon_variant,,ENST00000495802,;SKAP2,non_coding_transcript_exon_variant,,ENST00000468712,;	uc003syc.2	c.584G>A	898/3998	1	1			c.584G>A						7	SNP	c.(583-585)CGT>CAT	5	5			pancreas(1)	1	Broad	src kinase associated phosphoprotein 2			26766511		0.303	ENSG00000005020	14132	g.chr7:26766511C>T	B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity							-3.222365	KEEP	6	1	-1	48	42	6	1	-1	12.948912	48	42	0.070588	1	0	0	0	0	1	0	0	0	--	--		0	T			SKAP2_uc011jzi.1_Missense_Mutation_p.R23H|SKAP2_uc011jzj.1_Missense_Mutation_p.R180H	58	GBM-06-0644-TP	p.R195H	C	CTGATATATACGTTTATCAGG	NM_003930	NP_003921	26766511	O75563	SKAP2_HUMAN	0			7	877	-	T	T			Missense_Mutation	195			PH.			
SKAP2	0	broad.mit.edu	GRCh37	7	26778465	26778465	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345317.2:c.418C>T	p.Arg140Trp	p.R140W	ENST00000345317	NM_003930.3	140	Cgg/Tgg	0			1			A	R/W	uc003syc.2	protein_coding	YES	CCDS5400.1			418/1080									pancreas(1)	1	c.(418-420)CGG>TGG			PROSITE_profiles:PS50003,hmmpanther:PTHR15129:SF2,hmmpanther:PTHR15129,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	src kinase associated phosphoprotein 2				ENSP00000005587		13-Jun									COSM2153652,COSM3411953	13-Jun	.		ENST00000345317	Transcript			B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity	ENSG00000005020	g.chr7:26778465G>A	15687			MODERATE		3.87	high	getma.org/?cm=msa&ty=f&p=SKAP2_HUMAN&rb=117&re=219&var=R140W	getma.org/pdb.php?prot=SKAP2_HUMAN&from=117&to=219&var=R140W	getma.org/?cm=var&var=hg19,7,26778465,G,A&fts=all	R140W	--	--	1																																		SKAP2_uc011jzi.1_Translation_Start_Site|SKAP2_uc011jzj.1_Missense_Mutation_p.R125W	1,1	1		probably_damaging(0.999)	p.R140W	NM_003930	NP_003921		deleterious(0)	1,1	SKAP2_HUMAN	SKAP2	HGNC	O75563	SKAP2_HUMAN			B7Z5R3_HUMAN		6	711	-			UPI0000073C8C	140			PH.		SNV	SKAP2,missense_variant,p.Arg140Trp,ENST00000345317,NM_003930.3;SKAP2,missense_variant,p.Arg125Trp,ENST00000432747,;SKAP2,5_prime_UTR_variant,,ENST00000539623,;SKAP2,non_coding_transcript_exon_variant,,ENST00000489977,;SKAP2,non_coding_transcript_exon_variant,,ENST00000495802,;SKAP2,downstream_gene_variant,,ENST00000490456,;SKAP2,non_coding_transcript_exon_variant,,ENST00000468712,;	uc003syc.2	c.418C>T	732/3998	2	2			c.418C>T						7	SNP	c.(418-420)CGG>TGG	30	30			pancreas(1)	1	Broad	src kinase associated phosphoprotein 2			26778465		0.274	ENSG00000005020	14132	g.chr7:26778465G>A	B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity							110.293993	KEEP	24	26	-1	81	70	24	26	-1	119.612051	81	70	0.25	1	0	0	0	0	1	0	0	0	--	--		0	A			SKAP2_uc011jzi.1_Translation_Start_Site|SKAP2_uc011jzj.1_Missense_Mutation_p.R125W	120	GBM-12-0619-TP	p.R140W	G	GCACACCACCGTTTCTGCCAT	NM_003930	NP_003921	26778465	O75563	SKAP2_HUMAN	0			6	711	-	A	A			Missense_Mutation	140			PH.			
SKAP2	0	broad.mit.edu	GRCh37	7	26779515	26779515	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6191-01	TCGA-76-6191-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345317.2:c.376C>T	p.Arg126Cys	p.R126C	ENST00000345317	NM_003930.3	126	Cgc/Tgc	0			1			A	R/C	uc003syc.2	protein_coding	YES	CCDS5400.1			376/1080									pancreas(1)	1	c.(376-378)CGC>TGC			PROSITE_profiles:PS50003,hmmpanther:PTHR15129:SF2,hmmpanther:PTHR15129,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	src kinase associated phosphoprotein 2				ENSP00000005587		13-May									COSM223150	13-May	.		ENST00000345317	Transcript			B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity	ENSG00000005020	g.chr7:26779515G>A	15687			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=SKAP2_HUMAN&rb=117&re=219&var=R126C	getma.org/pdb.php?prot=SKAP2_HUMAN&from=117&to=219&var=R126C	getma.org/?cm=var&var=hg19,7,26779515,G,A&fts=all	R126C	--	--	1																																		SKAP2_uc011jzi.1_Translation_Start_Site|SKAP2_uc011jzj.1_Missense_Mutation_p.R111C	1	1		probably_damaging(1)	p.R126C	NM_003930	NP_003921		deleterious(0)	1	SKAP2_HUMAN	SKAP2	HGNC	O75563	SKAP2_HUMAN			B7Z5R3_HUMAN		5	669	-			UPI0000073C8C	126			PH.		SNV	SKAP2,missense_variant,p.Arg126Cys,ENST00000345317,NM_003930.3;SKAP2,missense_variant,p.Arg111Cys,ENST00000432747,;SKAP2,5_prime_UTR_variant,,ENST00000539623,;SKAP2,non_coding_transcript_exon_variant,,ENST00000489977,;SKAP2,non_coding_transcript_exon_variant,,ENST00000490456,;SKAP2,non_coding_transcript_exon_variant,,ENST00000495802,;SKAP2,non_coding_transcript_exon_variant,,ENST00000468712,;	uc003syc.2	c.376C>T	690/3998	2	2			c.376C>T						7	SNP	c.(376-378)CGC>TGC	48	48			pancreas(1)	1	Broad	src kinase associated phosphoprotein 2			26779515		0.373	ENSG00000005020	14132	g.chr7:26779515G>A	B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity							38.269141	KEEP	9	6	-1	13	14	9	6	-1	39.225005	13	14	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	A			SKAP2_uc011jzi.1_Translation_Start_Site|SKAP2_uc011jzj.1_Missense_Mutation_p.R111C	274	GBM-76-6191-TP	p.R126C	G	CCTTTTCTGCGTTTTTCAAGG	NM_003930	NP_003921	26779515	O75563	SKAP2_HUMAN	0			5	669	-	A	A			Missense_Mutation	126			PH.			
SKI	0	broad.mit.edu	GRCh37	1	2234792	2234792	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378536.4:c.1164G>A	p.Ala388=	p.A388=	ENST00000378536	NM_003036.3	388	gcG/gcA	0			1			A	A	uc001aja.3	protein_coding	YES	CCDS39.1			1164/2187									lung(1)|central_nervous_system(1)	2	c.(1162-1164)GCG>GCA			hmmpanther:PTHR10005:SF15,hmmpanther:PTHR10005	v-ski sarcoma viral oncogene homolog				ENSP00000367797		7-Mar	1.65E-05					1.50E-05	0.00111		rs780171614,COSM3400360	7-Mar	.		ENST00000378536	Transcript	1		anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000157933	g.chr1:2234792G>A	10896			LOW								--	--	1																																			0,1	1			p.A388A	NM_003036	NP_003027			0,1	SKI_HUMAN	SKI	HGNC	P12755	SKI_HUMAN		Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)	Q7Z462_HUMAN,Q7Z461_HUMAN,Q7Z459_HUMAN		3	1236	+	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)		UPI00001359DE	388					SNV	SKI,synonymous_variant,p.=,ENST00000378536,NM_003036.3;SKI,non_coding_transcript_exon_variant,,ENST00000478223,;SKI,downstream_gene_variant,,ENST00000508416,;SKI,upstream_gene_variant,,ENST00000507179,;	uc001aja.3	c.1164G>A	1236/5613	2	2			c.1164G>A						1	SNP	c.(1162-1164)GCG>GCA	43	43			lung(1)|central_nervous_system(1)	2	Broad	v-ski sarcoma viral oncogene homolog			2234792		0.622	ENSG00000157933	14133	g.chr1:2234792G>A	anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Ovarian(177;144 1678 13697 20086 27838 40755)			Ovarian(177;144 1678 13697 20086 27838 40755)			230.262991	KEEP	38	48	-1	47	71	38	48	-1	230.82002	47	71	0.439306	1	0	0	0	0	0	0	1	0	--	--		0	A				177	GBM-19-5959-TP	p.A388A	G	CAGTGTCAGCGAGTGAGAAAG	NM_003036	NP_003027	2234792	P12755	SKI_HUMAN	0		Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)	3	1236	+	A	A	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)		Silent	388						
SKIDA1	0	broad.mit.edu	GRCh37	10	21805467	21805469	+	inframe_deletion	In_Frame_Del	DEL	CCT	CCT	-			TCGA-76-4934-01	TCGA-76-4934-01	CCT	CCT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449193.2:c.1283_1285delAGG	p.Glu428del	p.E428del	ENST00000449193	NM_207371.3	428	gAGGgg/ggg	0			1			-	EG/G	uc009xkd.2	protein_coding	YES	CCDS44363.1			1283-1285/2727									ovary(1)	1	c.(1282-1287)GAGGGG>GGG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23187,hmmpanther:PTHR23187:SF2,Low_complexity_(Seg):seg	hypothetical protein LOC387640				ENSP00000410041		4-Apr										4-Apr	.		ENST00000449193	Transcript				nucleus	nucleotide binding	ENSG00000180592	g.chr10:21805467_21805469delCCT	32697			MODERATE								--	--	1																																		uc001iqp.1_RNA		1			p.E428del	NM_207371	NP_997254					SKIDA1	HGNC	Q1XH10	DLN1_HUMAN			E9PAX1_HUMAN		4	3536_3538	-			UPI00015386B3	347	E -> EEE (in Ref. 2; BAD18601 and 4; CAD39106).		Ser-rich.|Glu-rich.		deletion	SKIDA1,inframe_deletion,p.Glu428del,ENST00000449193,NM_207371.3;SKIDA1,inframe_deletion,p.Glu349del,ENST00000444772,;SKIDA1,downstream_gene_variant,,ENST00000487107,;	uc009xkd.2	c.1283_1285delAGG	3536-3538/6598	5	5			c.1283_1285delAGG						10	DEL	c.(1282-1287)GAGGGG>GGG	34	34			ovary(1)	1	Broad	hypothetical protein LOC387640			21805469		0.438	ENSG00000180592	1561	g.chr10:21805467_21805469delCCT		nucleus	nucleotide binding																				0.57	1	1	0	1	0	0	0	0	0	--	--		0	-			uc001iqp.1_RNA	272	GBM-76-4934-TP	p.E428del	CCT	CCGCTGCccccctcctcctcctc	NM_207371	NP_997254	21805467	Q1XH10	DLN1_HUMAN	0			4	3536_3538	-	-	-			In_Frame_Del	347	E -> EEE (in Ref. 2; BAD18601 and 4; CAD39106).		Ser-rich.|Glu-rich.			
SKIC2	0	broad.mit.edu	GRCh37	6	31936703	31936703	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01	TCGA-26-5135-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375394.2:c.3236G>A	p.Arg1079Gln	p.R1079Q	ENST00000375394	NM_006929.4	1079	cGg/cAg	0			1			A	R/Q	uc003nyn.1	protein_coding	YES	CCDS4731.1			3236/3741									ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4	c.(3235-3237)CGG>CAG			hmmpanther:PTHR11752:SF62,hmmpanther:PTHR11752,Pfam_domain:PF08148,PIRSF_domain:PIRSF005198	superkiller viralicidic activity 2-like homolog				ENSP00000364543		26/28									COSM2157067,COSM2157066	26/28	.		ENST00000375394	Transcript	1			nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	ENSG00000204351	g.chr6:31936703G>A	10898			MODERATE		2.845	medium	getma.org/?cm=msa&ty=f&p=SKIV2_HUMAN&rb=1068&re=1245&var=R1079Q	getma.org/pdb.php?prot=SKIV2_HUMAN&from=1068&to=1245&var=R1079Q	getma.org/?cm=var&var=hg19,6,31936703,G,A&fts=all	R1079Q	--	--	1																																		SKIV2L_uc011dou.1_Missense_Mutation_p.R921Q|SKIV2L_uc011dov.1_Missense_Mutation_p.R886Q|STK19_uc003nyt.2_5'Flank|STK19_uc011dow.1_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.2_5'Flank|STK19_uc003nyw.2_5'Flank	1,1	1		benign(0.136)	p.R1079Q	NM_006929	NP_008860		deleterious(0.01)	1,1	SKIV2_HUMAN	SKIV2L	HGNC	Q15477	SKIV2_HUMAN			Q9NPK3_HUMAN,Q9BQJ5_HUMAN,F5H7B0_HUMAN,B4DM01_HUMAN		26	3625	+			UPI000045740B	1079					SNV	SKIV2L,missense_variant,p.Arg1079Gln,ENST00000375394,NM_006929.4;SKIV2L,missense_variant,p.Arg886Gln,ENST00000544581,;SKIV2L,missense_variant,p.Arg78Gln,ENST00000491994,;DXO,downstream_gene_variant,,ENST00000375349,;STK19,upstream_gene_variant,,ENST00000375331,NM_004197.1;DXO,downstream_gene_variant,,ENST00000337523,NM_005510.3;STK19,upstream_gene_variant,,ENST00000375333,NM_032454.1;DXO,downstream_gene_variant,,ENST00000375356,;DXO,downstream_gene_variant,,ENST00000495340,;STK19,upstream_gene_variant,,ENST00000460018,;SKIV2L,non_coding_transcript_exon_variant,,ENST00000471818,;SKIV2L,non_coding_transcript_exon_variant,,ENST00000470453,;DXO,downstream_gene_variant,,ENST00000478221,;DXO,downstream_gene_variant,,ENST00000474587,;DXO,downstream_gene_variant,,ENST00000487914,;SKIV2L,downstream_gene_variant,,ENST00000461915,;STK19,upstream_gene_variant,,ENST00000463823,;STK19,upstream_gene_variant,,ENST00000466336,;SKIV2L,3_prime_UTR_variant,,ENST00000474839,;SKIV2L,3_prime_UTR_variant,,ENST00000483553,;SKIV2L,non_coding_transcript_exon_variant,,ENST00000465703,;SKIV2L,non_coding_transcript_exon_variant,,ENST00000484835,;SKIV2L,non_coding_transcript_exon_variant,,ENST00000485349,;DXO,downstream_gene_variant,,ENST00000477826,;DXO,downstream_gene_variant,,ENST00000473976,;STK19,upstream_gene_variant,,ENST00000473983,;STK19,upstream_gene_variant,,ENST00000466132,;DXO,downstream_gene_variant,,ENST00000485557,;DXO,downstream_gene_variant,,ENST00000498357,;DXO,downstream_gene_variant,,ENST00000492946,;STK19,upstream_gene_variant,,ENST00000492583,;DXO,downstream_gene_variant,,ENST00000491327,;STK19,upstream_gene_variant,,ENST00000479644,;DXO,downstream_gene_variant,,ENST00000480240,;STK19,upstream_gene_variant,,ENST00000491861,;STK19,upstream_gene_variant,,ENST00000519179,;STK19,upstream_gene_variant,,ENST00000483801,;STK19,upstream_gene_variant,,ENST00000469907,;SKIV2L,downstream_gene_variant,,ENST00000494058,;STK19,upstream_gene_variant,,ENST00000478486,;DXO,downstream_gene_variant,,ENST00000460058,;STK19,upstream_gene_variant,,ENST00000484540,;STK19,upstream_gene_variant,,ENST00000471028,;	uc003nyn.1	c.3236G>A	3349/3894	2	2			c.3236G>A						6	SNP	c.(3235-3237)CGG>CAG	25	25			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4	Broad	superkiller viralicidic activity 2-like homolog			31936703		0.592	ENSG00000204351	14135	g.chr6:31936703G>A		nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding							106.615007	KEEP	25	35	-1	43	62	25	35	-1	108.883369	43	62	0.352941	1	0	0	0	0	1	0	0	0	--	--		0	A			SKIV2L_uc011dou.1_Missense_Mutation_p.R921Q|SKIV2L_uc011dov.1_Missense_Mutation_p.R886Q|STK19_uc003nyt.2_5'Flank|STK19_uc011dow.1_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.2_5'Flank|STK19_uc003nyw.2_5'Flank	184	GBM-26-5135-TP	p.R1079Q	G	CTGGCAGGGCGGGTGGCTTGT	NM_006929	NP_008860	31936703	Q15477	SKIV2_HUMAN	0			26	3625	+	A	A			Missense_Mutation	1079						
SKIC2	0	broad.mit.edu	GRCh37	6	31937127	31937127	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01	TCGA-41-3392-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375394.2:c.3470C>T	p.Thr1157Met	p.T1157M	ENST00000375394	NM_006929.4	1157	aCg/aTg	0	T:0.0016		1			T	T/M	uc003nyn.1	protein_coding	YES	CCDS4731.1			3470/3741									ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4	c.(3469-3471)ACG>ATG			hmmpanther:PTHR11752:SF62,hmmpanther:PTHR11752,Pfam_domain:PF08148,PIRSF_domain:PIRSF005198	superkiller viralicidic activity 2-like homolog			T:0	ENSP00000364543		27/28	0.000329	0.00164	0.00182			1.50E-05		6.06E-05	rs201764098,COSM3410964,COSM3410963	27/28	common_variant		ENST00000375394	Transcript	1			nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	ENSG00000204351	g.chr6:31937127C>T	10898			MODERATE		1.815	low	getma.org/?cm=msa&ty=f&p=SKIV2_HUMAN&rb=1068&re=1245&var=T1157M	getma.org/pdb.php?prot=SKIV2_HUMAN&from=1068&to=1245&var=T1157M	getma.org/?cm=var&var=hg19,6,31937127,C,T&fts=all	T1157M	--	--	1																																		SKIV2L_uc011dou.1_Missense_Mutation_p.T999M|SKIV2L_uc011dov.1_Missense_Mutation_p.T964M|STK19_uc003nyt.2_5'Flank|STK19_uc011dow.1_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.2_5'Flank|STK19_uc003nyw.2_5'Flank|STK19_uc010jtn.1_5'Flank	0,1,1	1		possibly_damaging(0.835)	p.T1157M	NM_006929	NP_008860		deleterious(0.03)	0,1,1	SKIV2_HUMAN	SKIV2L	HGNC	Q15477	SKIV2_HUMAN			Q9NPK3_HUMAN,Q9BQJ5_HUMAN,F5H7B0_HUMAN,B4DM01_HUMAN		27	3859	+			UPI000045740B	1157					SNV	SKIV2L,missense_variant,p.Thr1157Met,ENST00000375394,NM_006929.4;SKIV2L,missense_variant,p.Thr964Met,ENST00000544581,;SKIV2L,missense_variant,p.Thr156Met,ENST00000491994,;DXO,downstream_gene_variant,,ENST00000375349,;STK19,upstream_gene_variant,,ENST00000375331,NM_004197.1;DXO,downstream_gene_variant,,ENST00000337523,NM_005510.3;STK19,upstream_gene_variant,,ENST00000375333,NM_032454.1;DXO,downstream_gene_variant,,ENST00000375356,;DXO,downstream_gene_variant,,ENST00000495340,;STK19,upstream_gene_variant,,ENST00000460018,;SKIV2L,non_coding_transcript_exon_variant,,ENST00000471818,;SKIV2L,intron_variant,,ENST00000470453,;DXO,downstream_gene_variant,,ENST00000478221,;DXO,downstream_gene_variant,,ENST00000474587,;DXO,downstream_gene_variant,,ENST00000487914,;SKIV2L,downstream_gene_variant,,ENST00000461915,;STK19,upstream_gene_variant,,ENST00000463823,;STK19,upstream_gene_variant,,ENST00000466336,;SKIV2L,3_prime_UTR_variant,,ENST00000474839,;SKIV2L,3_prime_UTR_variant,,ENST00000483553,;SKIV2L,non_coding_transcript_exon_variant,,ENST00000465703,;SKIV2L,non_coding_transcript_exon_variant,,ENST00000485349,;DXO,downstream_gene_variant,,ENST00000477826,;DXO,downstream_gene_variant,,ENST00000473976,;STK19,upstream_gene_variant,,ENST00000473983,;STK19,upstream_gene_variant,,ENST00000466132,;DXO,downstream_gene_variant,,ENST00000485557,;DXO,downstream_gene_variant,,ENST00000498357,;DXO,downstream_gene_variant,,ENST00000492946,;STK19,upstream_gene_variant,,ENST00000492583,;DXO,downstream_gene_variant,,ENST00000491327,;STK19,upstream_gene_variant,,ENST00000479644,;DXO,downstream_gene_variant,,ENST00000480240,;STK19,upstream_gene_variant,,ENST00000491861,;STK19,upstream_gene_variant,,ENST00000519179,;STK19,upstream_gene_variant,,ENST00000483801,;STK19,upstream_gene_variant,,ENST00000469907,;SKIV2L,downstream_gene_variant,,ENST00000484835,;SKIV2L,downstream_gene_variant,,ENST00000494058,;STK19,upstream_gene_variant,,ENST00000478486,;DXO,downstream_gene_variant,,ENST00000460058,;STK19,upstream_gene_variant,,ENST00000484540,;STK19,upstream_gene_variant,,ENST00000471028,;	uc003nyn.1	c.3470C>T	3583/3894	2	2			c.3470C>T						6	SNP	c.(3469-3471)ACG>ATG	38	38			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4	Broad	superkiller viralicidic activity 2-like homolog			31937127		0.557	ENSG00000204351	14135	g.chr6:31937127C>T		nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding							91.713396	KEEP	24	13	-1	23	22	24	13	-1	92.074564	23	22	0.424658	1	0	0	0	0	1	0	0	0	--	--		0	T			SKIV2L_uc011dou.1_Missense_Mutation_p.T999M|SKIV2L_uc011dov.1_Missense_Mutation_p.T964M|STK19_uc003nyt.2_5'Flank|STK19_uc011dow.1_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.2_5'Flank|STK19_uc003nyw.2_5'Flank|STK19_uc010jtn.1_5'Flank	254	GBM-41-3392-TP	p.T1157M	C	CTGAACCAGACGGTGGAGGAA	NM_006929	NP_008860	31937127	Q15477	SKIV2_HUMAN	0			27	3859	+	T	T			Missense_Mutation	1157						
SKIC2	0	broad.mit.edu	GRCh37	6	31936254	31936254	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01	TCGA-76-4928-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375394.2:c.3008G>A	p.Arg1003Gln	p.R1003Q	ENST00000375394	NM_006929.4	1003	cGg/cAg	0			1			A	R/Q	uc003nyn.1	protein_coding	YES	CCDS4731.1			3008/3741									ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4	c.(3007-3009)CGG>CAG			hmmpanther:PTHR11752:SF62,hmmpanther:PTHR11752,Pfam_domain:PF13234,PIRSF_domain:PIRSF005198	superkiller viralicidic activity 2-like homolog				ENSP00000364543		24/28	8.55E-06					1.60E-05			rs755869572,COSM3410962,COSM3410961	24/28	.		ENST00000375394	Transcript	1			nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	ENSG00000204351	g.chr6:31936254G>A	10898			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=SKIV2_HUMAN&rb=763&re=1047&var=R1003Q	getma.org/pdb.php?prot=SKIV2_HUMAN&from=763&to=1047&var=R1003Q	getma.org/?cm=var&var=hg19,6,31936254,G,A&fts=all	R1003Q	--	--	1																																		SKIV2L_uc011dou.1_Missense_Mutation_p.R845Q|SKIV2L_uc011dov.1_Missense_Mutation_p.R810Q|STK19_uc003nyt.2_5'Flank	0,1,1	1		benign(0.121)	p.R1003Q	NM_006929	NP_008860		tolerated(0.21)	0,1,1	SKIV2_HUMAN	SKIV2L	HGNC	Q15477	SKIV2_HUMAN			Q9NPK3_HUMAN,Q9BQJ5_HUMAN,F5H7B0_HUMAN,B4DM01_HUMAN		24	3397	+			UPI000045740B	1003					SNV	SKIV2L,missense_variant,p.Arg1003Gln,ENST00000375394,NM_006929.4;SKIV2L,missense_variant,p.Arg810Gln,ENST00000544581,;SKIV2L,missense_variant,p.Arg2Gln,ENST00000491994,;DXO,downstream_gene_variant,,ENST00000375349,;STK19,upstream_gene_variant,,ENST00000375331,NM_004197.1;DXO,downstream_gene_variant,,ENST00000337523,NM_005510.3;STK19,upstream_gene_variant,,ENST00000375333,NM_032454.1;DXO,downstream_gene_variant,,ENST00000375356,;DXO,downstream_gene_variant,,ENST00000495340,;STK19,upstream_gene_variant,,ENST00000460018,;SKIV2L,intron_variant,,ENST00000471818,;DXO,downstream_gene_variant,,ENST00000478221,;DXO,downstream_gene_variant,,ENST00000474587,;DXO,downstream_gene_variant,,ENST00000487914,;SKIV2L,downstream_gene_variant,,ENST00000461915,;STK19,upstream_gene_variant,,ENST00000463823,;STK19,upstream_gene_variant,,ENST00000466336,;SKIV2L,upstream_gene_variant,,ENST00000470453,;SKIV2L,missense_variant,p.Arg128Gln,ENST00000483553,;SKIV2L,3_prime_UTR_variant,,ENST00000474839,;SKIV2L,non_coding_transcript_exon_variant,,ENST00000465703,;SKIV2L,non_coding_transcript_exon_variant,,ENST00000484835,;SKIV2L,non_coding_transcript_exon_variant,,ENST00000485349,;DXO,downstream_gene_variant,,ENST00000477826,;DXO,downstream_gene_variant,,ENST00000473976,;STK19,upstream_gene_variant,,ENST00000473983,;STK19,upstream_gene_variant,,ENST00000466132,;DXO,downstream_gene_variant,,ENST00000485557,;DXO,downstream_gene_variant,,ENST00000498357,;DXO,downstream_gene_variant,,ENST00000492946,;STK19,upstream_gene_variant,,ENST00000492583,;DXO,downstream_gene_variant,,ENST00000491327,;STK19,upstream_gene_variant,,ENST00000479644,;DXO,downstream_gene_variant,,ENST00000480240,;STK19,upstream_gene_variant,,ENST00000491861,;STK19,upstream_gene_variant,,ENST00000519179,;STK19,upstream_gene_variant,,ENST00000483801,;STK19,upstream_gene_variant,,ENST00000469907,;SKIV2L,downstream_gene_variant,,ENST00000494058,;STK19,upstream_gene_variant,,ENST00000478486,;DXO,downstream_gene_variant,,ENST00000460058,;STK19,upstream_gene_variant,,ENST00000484540,;STK19,upstream_gene_variant,,ENST00000471028,;	uc003nyn.1	c.3008G>A	3121/3894	1	1			c.3008G>A						6	SNP	c.(3007-3009)CGG>CAG	55	55			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4	Broad	superkiller viralicidic activity 2-like homolog			31936254		0.632	ENSG00000204351	14135	g.chr6:31936254G>A		nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding							46.494754	KEEP	13	10	-1	27	46	13	10	-1	51.708136	27	46	0.234568	1	0	0	0	0	1	0	0	0	--	--		0	A			SKIV2L_uc011dou.1_Missense_Mutation_p.R845Q|SKIV2L_uc011dov.1_Missense_Mutation_p.R810Q|STK19_uc003nyt.2_5'Flank	268	GBM-76-4928-TP	p.R1003Q	G	CTCCGGGCCCGGAAGCTGGAG	NM_006929	NP_008860	31936254	Q15477	SKIV2_HUMAN	0			24	3397	+	A	A			Missense_Mutation	1003						
SKOR1	0	broad.mit.edu	GRCh37	15	68118859	68118859	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-16-1045-01	TCGA-16-1045-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380035.2:c.693C>T	p.Asp231=	p.D231=	ENST00000380035		231	gaC/gaT	0			1			T	D	uc002aqy.1	protein_coding					693/2898										0	c.(664-666)GAC>GAT			hmmpanther:PTHR10005:SF8,hmmpanther:PTHR10005,Pfam_domain:PF08782,Gene3D:3.10.390.10,SMART_domains:SM01046,Superfamily_domains:SSF63763	transcriptional corepressor Corl1				ENSP00000369374		9-Feb									COSM964316,COSM3401886,COSM1152866	9-Feb	.		ENST00000380035	Transcript			negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity	ENSG00000188779	g.chr15:68118859C>T	21326			LOW								--	--	1																																			1,1,1				p.D222D	NM_001031807	NP_001026977			1,1,1	SKOR1_HUMAN	SKOR1	HGNC	P84550	SKOR1_HUMAN			G3V3E1_HUMAN		2	666	+			UPI000052A497	231					SNV	SKOR1,synonymous_variant,p.=,ENST00000380035,;SKOR1,synonymous_variant,p.=,ENST00000554054,;SKOR1,synonymous_variant,p.=,ENST00000554240,;SKOR1,synonymous_variant,p.=,ENST00000341418,NM_001258024.1;SKOR1,synonymous_variant,p.=,ENST00000389002,;	uc002aqy.1	c.666C>T	751/3675	1	1			c.666C>T						15	SNP	c.(664-666)GAC>GAT	5	5				0	Broad	transcriptional corepressor Corl1			68118859		0.572	ENSG00000188779	8497	g.chr15:68118859C>T	negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity							8.084147	KEEP	3	7	-1	33	33	3	7	-1	16.756989	33	33	0.116667	1	0	0	0	0	0	0	1	0	--	--		0	T				157	GBM-16-1045-TP	p.D222D	C	GAACACCCGACGCCAAGTACA	NM_001031807	NP_001026977	68118859	P84550	SKOR1_HUMAN	0			2	666	+	T	T			Silent	231						
SKOR1	0	broad.mit.edu	GRCh37	15	68118619	68118619	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-3915-01	TCGA-41-3915-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380035.2:c.453C>T	p.Cys151=	p.C151=	ENST00000380035		151	tgC/tgT	0			1			T	C	uc002aqy.1	protein_coding					453/2898										0	c.(424-426)TGC>TGT			hmmpanther:PTHR10005:SF8,hmmpanther:PTHR10005,Pfam_domain:PF02437,Gene3D:3.10.260.20,Superfamily_domains:SSF46955	transcriptional corepressor Corl1				ENSP00000369374		9-Feb									COSM3401883,COSM3401884,COSM3401885	9-Feb	.		ENST00000380035	Transcript			negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity	ENSG00000188779	g.chr15:68118619C>T	21326			LOW								--	--	1																																			1,1,1				p.C142C	NM_001031807	NP_001026977			1,1,1	SKOR1_HUMAN	SKOR1	HGNC	P84550	SKOR1_HUMAN			G3V3E1_HUMAN		2	426	+			UPI000052A497	151					SNV	SKOR1,synonymous_variant,p.=,ENST00000380035,;SKOR1,synonymous_variant,p.=,ENST00000554054,;SKOR1,synonymous_variant,p.=,ENST00000554240,;SKOR1,synonymous_variant,p.=,ENST00000341418,NM_001258024.1;SKOR1,synonymous_variant,p.=,ENST00000389002,;	uc002aqy.1	c.426C>T	511/3675	2	2			c.426C>T						15	SNP	c.(424-426)TGC>TGT	35	35				0	Broad	transcriptional corepressor Corl1			68118619		0.662	ENSG00000188779	8497	g.chr15:68118619C>T	negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity							-5.287638	KEEP	2	3	-1	28	54	2	3	-1	9.586571	28	54	0.065789	1	0	0	0	0	0	0	1	0	--	--		0	T				256	GBM-41-3915-TP	p.C142C	C	CGCGCCGCTGCGGCATGATCA	NM_001031807	NP_001026977	68118619	P84550	SKOR1_HUMAN	0			2	426	+	T	T			Silent	151						
SKP2	6502	broad.mit.edu	GRCh37	5	36171807	36171807	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-2570-01	TCGA-06-2570-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274255.6:c.873C>A	p.Ser291Arg	p.S291R	ENST00000274255	NM_005983.3	291	agC/agA	0			1			A	S/R	uc003jkc.1	protein_coding	YES	CCDS3916.1			873/1275									central_nervous_system(2)|ovary(1)|breast(1)	4	c.(871-873)AGC>AGA			hmmpanther:PTHR23125:SF34,hmmpanther:PTHR23125,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	S-phase kinase-associated protein 2 isoform 1				ENSP00000274255		10-Jul									COSM3410251,COSM3410250	10-Jul	.		ENST00000274255	Transcript			anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	ENSG00000145604	g.chr5:36171807C>A	10901			MODERATE		2.57	medium	getma.org/?cm=msa&ty=f&p=SKP2_HUMAN&rb=144&re=343&var=S291R	getma.org/pdb.php?prot=SKP2_HUMAN&from=144&to=343&var=S291R	getma.org/?cm=var&var=hg19,5,36171807,C,A&fts=all	S291R	--	--	1																																		SKP2_uc011cou.1_Missense_Mutation_p.S77R|SKP2_uc003jkd.2_Missense_Mutation_p.S291R	1,1	1		probably_damaging(1)	p.S291R	NM_005983	NP_005974		deleterious(0)	1,1	SKP2_HUMAN	SKP2	HGNC	Q13309	SKP2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)				7	1055	+	all_lung(31;5.63e-05)		UPI0000073D61	291			LRR 6.		SNV	SKP2,missense_variant,p.Ser291Arg,ENST00000274255,NM_005983.3;SKP2,missense_variant,p.Ser77Arg,ENST00000546211,NM_001243120.1;SKP2,missense_variant,p.Ser291Arg,ENST00000274254,NM_032637.3;SKP2,missense_variant,p.Ser246Arg,ENST00000513151,;SKP2,intron_variant,,ENST00000508514,;SKP2,3_prime_UTR_variant,,ENST00000509692,;SKP2,intron_variant,,ENST00000504386,;SKP2,downstream_gene_variant,,ENST00000513263,;	uc003jkc.1	c.873C>A	1069/3759	2	2			c.873C>A						5	SNP	c.(871-873)AGC>AGA	30	30			central_nervous_system(2)|ovary(1)|breast(1)	4	Broad	S-phase kinase-associated protein 2 isoform 1			36171807		0.463	ENSG00000145604	14138	g.chr5:36171807C>A	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			161			161	-56.898035	KEEP	3	1	0.25	124	128	3	1	0.25	6.50499	124	128	0.016667	1	0	0	0	0	1	0	0	0	--	--		0	A			SKP2_uc011cou.1_Missense_Mutation_p.S77R|SKP2_uc003jkd.2_Missense_Mutation_p.S291R	91	GBM-06-2570-TP	p.S291R	C	TGAATCTTAGCGGCTACAGAA	NM_005983	NP_005974	36171807	Q13309	SKP2_HUMAN	0	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1055	+	A	A	all_lung(31;5.63e-05)		Missense_Mutation	291			LRR 6.			
SLAMF1	6504	broad.mit.edu	GRCh37	1	160607074	160607074	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01	TCGA-06-1804-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302035.6:c.322C>T	p.Arg108Trp	p.R108W	ENST00000302035	NM_003037.2	108	Cgg/Tgg	0	A:0		1			A	R/W	uc001fwl.3	protein_coding	YES	CCDS1207.1			322/1008									ovary(1)|breast(1)	2	c.(322-324)CGG>TGG			Pfam_domain:PF06214,hmmpanther:PTHR12080,hmmpanther:PTHR12080:SF49	signaling lymphocytic activation molecule family			A:0.0001	ENSP00000306190		7-Feb	3.29E-05					4.50E-05		6.06E-05	rs374126308,COSM2152492	7-Feb	.		ENST00000302035	Transcript			interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	ENSG00000117090	g.chr1:160607074G>A	10903			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=SLAF1_HUMAN&rb=1&re=126&var=R108W	getma.org/pdb.php?prot=SLAF1_HUMAN&from=1&to=126&var=R108W	getma.org/?cm=var&var=hg19,1,160607074,G,A&fts=all	R108W	--	--	1																																		SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_RNA|SLAMF1_uc001fwm.2_Missense_Mutation_p.R108W	0,1	1		possibly_damaging(0.693)	p.R108W	NM_003037	NP_003028		deleterious(0)	0,1	SLAF1_HUMAN	SLAMF1	HGNC	Q13291	SLAF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		Q9HBE9_HUMAN,Q9HBE8_HUMAN,Q9HBE7_HUMAN		2	668	-	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		UPI0000047630	108			Extracellular (Potential).		SNV	SLAMF1,missense_variant,p.Arg108Trp,ENST00000302035,NM_003037.2;SLAMF1,missense_variant,p.Arg108Trp,ENST00000235739,;SLAMF1,missense_variant,p.Arg108Trp,ENST00000355199,;SLAMF1,missense_variant,p.Arg108Trp,ENST00000538290,;SLAMF1,non_coding_transcript_exon_variant,,ENST00000494463,;	uc001fwl.3	c.322C>T	672/4006	2	2			c.322C>T						1	SNP	c.(322-324)CGG>TGG	20	20			ovary(1)|breast(1)	2	Broad	signaling lymphocytic activation molecule family			160607074		0.468	ENSG00000117090	14143	g.chr1:160607074G>A	interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity							102.575223	KEEP	12	30	-1	30	35	12	30	-1	103.797191	30	35	0.378947	1	0	0	0	0	1	0	0	0	--	--		0	A			SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_RNA|SLAMF1_uc001fwm.2_Missense_Mutation_p.R108W	79	GBM-06-1804-TP	p.R108W	G	CTGCTTTCCCGTATCCCCAGG	NM_003037	NP_003028	160607074	Q13291	SLAF1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.0175)		2	668	-	A	A	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		Missense_Mutation	108			Extracellular (Potential).			
SLAMF6	114836		GRCh37	1	160461161	160461161	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000368057.3:c.400C>A	p.Gln134Lys	p.Q134K	ENST00000368057		134	Caa/Aaa	0																																																																																																																																																																																																																																												
SLAMF7	0	broad.mit.edu	GRCh37	1	160718192	160718192	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-32-1986-01	TCGA-32-1986-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368043.3:c.264C>A	p.Tyr88Ter	p.Y88*	ENST00000368043	NM_021181.3	88	taC/taA	0			1			A	Y/*	uc001fwq.2	protein_coding	YES	CCDS1209.1			264/1008									skin(2)|ovary(1)	3	c.(262-264)TAC>TAA			Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR12080,hmmpanther:PTHR12080:SF46,Superfamily_domains:SSF48726	SLAM family member 7				ENSP00000357022		7-Feb	8.24E-06					1.50E-05			rs763177626,COSM3747800	7-Feb	.		ENST00000368043	Transcript			cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity	ENSG00000026751	g.chr1:160718192C>A	21394			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,160718192,C,A&fts=all	Y88*	--	--	1																																		SLAMF7_uc010pjn.1_Intron|SLAMF7_uc001fws.2_Intron|SLAMF7_uc001fwr.2_Nonsense_Mutation_p.Y88*|SLAMF7_uc010pjo.1_Nonsense_Mutation_p.Y88*|SLAMF7_uc010pjp.1_Intron|SLAMF7_uc010pjq.1_Nonsense_Mutation_p.Y88*|SLAMF7_uc010pjr.1_Intron	0,1	1			p.Y88*	NM_021181	NP_067004			0,1	SLAF7_HUMAN	SLAMF7	HGNC	Q9NQ25	SLAF7_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)				2	279	+	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		UPI00000389DC	88			Extracellular (Potential).		SNV	SLAMF7,stop_gained,p.Tyr88Ter,ENST00000368043,NM_021181.3,NM_001282595.1;SLAMF7,stop_gained,p.Tyr88Ter,ENST00000359331,NM_001282592.1;SLAMF7,stop_gained,p.Tyr88Ter,ENST00000441662,NM_001282589.1;SLAMF7,stop_gained,p.Tyr88Ter,ENST00000444090,NM_001282588.1;SLAMF7,stop_gained,p.Tyr88Ter,ENST00000495334,;SLAMF7,intron_variant,,ENST00000368042,NM_001282590.1;SLAMF7,intron_variant,,ENST00000458602,NM_001282591.1;SLAMF7,intron_variant,,ENST00000458104,;SLAMF7,downstream_gene_variant,,ENST00000488819,;SLAMF7,upstream_gene_variant,,ENST00000484221,;	uc001fwq.2	c.264C>A	301/2689	5	2			c.264C>A						1	SNP	c.(262-264)TAC>TAA	23	23			skin(2)|ovary(1)	3	Broad	SLAM family member 7			160718192		0.507	ENSG00000026751	14145	g.chr1:160718192C>A	cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity							-11.109226	KEEP	3	3	0.5	34	61	3	3	0.5	7.119298	34	61	0.065217	1	0	0	0	0	0	1	0	0	--	--		0	A			SLAMF7_uc010pjn.1_Intron|SLAMF7_uc001fws.2_Intron|SLAMF7_uc001fwr.2_Nonsense_Mutation_p.Y88*|SLAMF7_uc010pjo.1_Nonsense_Mutation_p.Y88*|SLAMF7_uc010pjp.1_Intron|SLAMF7_uc010pjq.1_Nonsense_Mutation_p.Y88*|SLAMF7_uc010pjr.1_Intron	233	GBM-32-1986-TP	p.Y88*	C	ATGGAGGCTACTCCCTGAAGC	NM_021181	NP_067004	160718192	Q9NQ25	SLAF7_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.0175)		2	279	+	A	A	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		Nonsense_Mutation	88			Extracellular (Potential).			
SLAMF8	56833	broad.mit.edu	GRCh37	1	159802791	159802791	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000289707.5:c.493C>T	p.Arg165Ter	p.R165*	ENST00000289707	NM_020125.2	165	Cga/Tga	0			1			T	R/*	uc001fue.3	protein_coding	YES	CCDS1188.1			493/858										0	c.(493-495)CGA>TGA			Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR12080,hmmpanther:PTHR12080:SF45,Superfamily_domains:SSF48726	SLAM family member 8 precursor				ENSP00000289707		5-Mar	1.65E-05					1.50E-05		6.06E-05	rs766523263,COSM1225834	5-Mar	.		ENST00000289707	Transcript				integral to membrane		ENSG00000158714	g.chr1:159802791C>T	21391			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,159802791,C,T&fts=all	R165*	--	--	1																																			0,1	1			p.R165*	NM_020125	NP_064510			0,1	SLAF8_HUMAN	SLAMF8	HGNC	Q9P0V8	SLAF8_HUMAN					3	703	+	all_hematologic(112;0.0597)		UPI000003E841	165			Ig-like C2-type.|Extracellular (Potential).		SNV	SLAMF8,stop_gained,p.Arg165Ter,ENST00000289707,NM_020125.2;SLAMF8,stop_gained,p.Arg56Ter,ENST00000368104,;C1orf204,downstream_gene_variant,,ENST00000368102,NM_001134233.1;SLAMF8,non_coding_transcript_exon_variant,,ENST00000471286,;C1orf204,downstream_gene_variant,,ENST00000491974,;SLAMF8,upstream_gene_variant,,ENST00000497141,;	uc001fue.3	c.493C>T	642/2996	5	1			c.493C>T						1	SNP	c.(493-495)CGA>TGA	1	1				0	Broad	SLAM family member 8 precursor			159802791		0.537	ENSG00000158714	14146	g.chr1:159802791C>T		integral to membrane								26.144942	KEEP	9	12	-1	59	44	9	12	-1	36.654203	59	44	0.17757	1	0	0	0	0	0	1	0	0	--	--		0	T				62	GBM-06-0649-TP	p.R165*	C	CTATAGCTGGCGACGGGAGAC	NM_020125	NP_064510	159802791	Q9P0V8	SLAF8_HUMAN	0			3	703	+	T	T	all_hematologic(112;0.0597)		Nonsense_Mutation	165			Ig-like C2-type.|Extracellular (Potential).			
SLC10A4	0	broad.mit.edu	GRCh37	4	48490671	48490671	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-3392-01	TCGA-41-3392-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273861.4:c.1029C>T	p.Leu343=	p.L343=	ENST00000273861	NM_152679.3	343	ctC/ctT	0			1			T	L	uc003gyc.2	protein_coding	YES	CCDS3482.1			1029/1314									central_nervous_system(1)	1	c.(1027-1029)CTC>CTT			hmmpanther:PTHR10361,hmmpanther:PTHR10361:SF20	solute carrier family 10, member 4				ENSP00000273861		3-Mar									COSM3748271	3-Mar	.		ENST00000273861	Transcript				integral to membrane	bile acid:sodium symporter activity	ENSG00000145248	g.chr4:48490671C>T	22980			LOW								--	--	1																																		ZAR1_uc003gyd.2_5'Flank	1	1			p.L343L	NM_152679	NP_689892			1	NTCP4_HUMAN	SLC10A4	HGNC	Q96EP9	NTCP4_HUMAN					3	1248	+			UPI000006E8DB	343			Cytoplasmic (Potential).		SNV	SLC10A4,synonymous_variant,p.=,ENST00000273861,NM_152679.3;ZAR1,upstream_gene_variant,,ENST00000327939,NM_175619.2;	uc003gyc.2	c.1029C>T	1248/1790	2	2			c.1029C>T						4	SNP	c.(1027-1029)CTC>CTT	47	47			central_nervous_system(1)	1	Broad	solute carrier family 10, member 4			48490671		0.473	ENSG00000145248	14152	g.chr4:48490671C>T		integral to membrane	bile acid:sodium symporter activity							244.475879	KEEP	41	44	-1	62	76	41	44	-1	246.837821	62	76	0.385366	1	0	0	0	0	0	0	1	0	--	--		0	T			ZAR1_uc003gyd.2_5'Flank	254	GBM-41-3392-TP	p.L343L	C	ATGTGCAGCTCTGTACAGCCA	NM_152679	NP_689892	48490671	Q96EP9	NTCP4_HUMAN	0			3	1248	+	T	T			Silent	343			Cytoplasmic (Potential).			
SLC10A6	345274		GRCh37	4	87749309	87749309	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000273905.6:c.598G>A	p.Val200Ile	p.V200I	ENST00000273905	NM_197965.2	200	Gtt/Att	0																																																																																																																																																																																																																																												
SLC10A7	84068		GRCh37	4	147227117	147227117	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000335472.7:c.516G>A	p.Gln172=	p.Q172=	ENST00000335472	NM_001029998.3	172	caG/caA	0																																																																																																																																																																																																																																												
SLC11A1	6556	broad.mit.edu	GRCh37	2	219255987	219255987	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01	TCGA-02-0003-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000233202.6:c.1021G>A	p.Val341Met	p.V341M	ENST00000233202	NM_000578.3	341	Gtg/Atg	0			1			A	V/M	uc002vhv.2	protein_coding	YES	CCDS2415.1			1021/1653									ovary(3)|central_nervous_system(1)	4	c.(1021-1023)GTG>ATG			HAMAP:MF_00221,Pfam_domain:PF01566,hmmpanther:PTHR11706,hmmpanther:PTHR11706:SF36,TIGRFAM_domain:TIGR01197	natural resistance-associated macrophage protein				ENSP00000233202		15-Oct	4.12E-05					4.51E-05		0.000121	rs769343240,COSM2148939	15-Oct	.		ENST00000233202	Transcript	1		activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	ENSG00000018280	g.chr2:219255987G>A	10907			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=NRAM1_HUMAN&rb=78&re=463&var=V341M	NA	getma.org/?cm=var&var=hg19,2,219255987,G,A&fts=all	V341M	--	--	1																																		SLC11A1_uc010fvp.1_Missense_Mutation_p.V341M|SLC11A1_uc010fvq.1_Missense_Mutation_p.V274M|SLC11A1_uc010zkc.1_Missense_Mutation_p.V274M|SLC11A1_uc002vhu.1_Missense_Mutation_p.V136M|SLC11A1_uc002vhw.2_Missense_Mutation_p.V223M|SLC11A1_uc010fvr.2_Missense_Mutation_p.V136M	0,1	1		possibly_damaging(0.771)	p.V341M	NM_000578	NP_000569		deleterious(0.03)	0,1	NRAM1_HUMAN	SLC11A1	HGNC	P49279	NRAM1_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Q8NDV6_HUMAN		10	1361	+		Renal(207;0.0474)	UPI0000130520	341			Extracellular (Potential).		SNV	SLC11A1,missense_variant,p.Val341Met,ENST00000233202,NM_000578.3;SLC11A1,missense_variant,p.Val223Met,ENST00000539932,;SLC11A1,downstream_gene_variant,,ENST00000473367,;SLC11A1,downstream_gene_variant,,ENST00000486451,;SLC11A1,downstream_gene_variant,,ENST00000481524,;SLC11A1,3_prime_UTR_variant,,ENST00000354352,;SLC11A1,non_coding_transcript_exon_variant,,ENST00000468221,;SLC11A1,non_coding_transcript_exon_variant,,ENST00000465984,;SLC11A1,non_coding_transcript_exon_variant,,ENST00000494322,;SLC11A1,non_coding_transcript_exon_variant,,ENST00000490872,;SLC11A1,downstream_gene_variant,,ENST00000469449,;SLC11A1,downstream_gene_variant,,ENST00000475225,;SLC11A1,upstream_gene_variant,,ENST00000490536,;SLC11A1,downstream_gene_variant,,ENST00000492413,;SLC11A1,downstream_gene_variant,,ENST00000469799,;SLC11A1,downstream_gene_variant,,ENST00000471875,;SLC11A1,downstream_gene_variant,,ENST00000483487,;SLC11A1,upstream_gene_variant,,ENST00000468721,;	uc002vhv.2	c.1021G>A	1361/3852	2	2			c.1021G>A						2	SNP	c.(1021-1023)GTG>ATG	45	45			ovary(3)|central_nervous_system(1)	4	Broad	natural resistance-associated macrophage protein			219255987		0.627	ENSG00000018280	14156	g.chr2:219255987G>A	activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity							167.810536	KEEP	27	39	-1	38	42	27	39	-1	167.895973	38	42	0.472	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC11A1_uc010fvp.1_Missense_Mutation_p.V341M|SLC11A1_uc010fvq.1_Missense_Mutation_p.V274M|SLC11A1_uc010zkc.1_Missense_Mutation_p.V274M|SLC11A1_uc002vhu.1_Missense_Mutation_p.V136M|SLC11A1_uc002vhw.2_Missense_Mutation_p.V223M|SLC11A1_uc010fvr.2_Missense_Mutation_p.V136M	1	GBM-02-0003-TP	p.V341M	G	CAACGCCACCGTGGCCGTGGA	NM_000578	NP_000569	219255987	P49279	NRAM1_HUMAN	0		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1361	+	A	A		Renal(207;0.0474)	Missense_Mutation	341			Extracellular (Potential).			
SLC11A1	0	broad.mit.edu	GRCh37	2	219254613	219254613	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000233202.6:c.816C>T	p.Ala272=	p.A272=	ENST00000233202	NM_000578.3	272	gcC/gcT	0			1			T	A	uc002vhv.2	protein_coding	YES	CCDS2415.1			816/1653									ovary(3)|central_nervous_system(1)	4	c.(814-816)GCC>GCT			HAMAP:MF_00221,Pfam_domain:PF01566,hmmpanther:PTHR11706,hmmpanther:PTHR11706:SF36,Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR01197	natural resistance-associated macrophage protein				ENSP00000233202		15-Sep									COSM3407568	15-Sep	.		ENST00000233202	Transcript	1		activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	ENSG00000018280	g.chr2:219254613C>T	10907			LOW								--	--	1																																		SLC11A1_uc010fvp.1_Silent_p.A272A|SLC11A1_uc010fvq.1_Silent_p.A205A|SLC11A1_uc010zkc.1_Silent_p.A205A|SLC11A1_uc002vhu.1_Silent_p.A67A|SLC11A1_uc002vhw.2_Silent_p.A154A|SLC11A1_uc010fvr.2_Silent_p.A67A	1	1			p.A272A	NM_000578	NP_000569			1	NRAM1_HUMAN	SLC11A1	HGNC	P49279	NRAM1_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Q8NDV6_HUMAN		9	1156	+		Renal(207;0.0474)	UPI0000130520	272			Cytoplasmic (Potential).		SNV	SLC11A1,synonymous_variant,p.=,ENST00000233202,NM_000578.3;SLC11A1,synonymous_variant,p.=,ENST00000539932,;SLC11A1,downstream_gene_variant,,ENST00000473367,;SLC11A1,downstream_gene_variant,,ENST00000486451,;SLC11A1,downstream_gene_variant,,ENST00000481524,;SLC11A1,3_prime_UTR_variant,,ENST00000354352,;SLC11A1,non_coding_transcript_exon_variant,,ENST00000468221,;SLC11A1,non_coding_transcript_exon_variant,,ENST00000465984,;SLC11A1,non_coding_transcript_exon_variant,,ENST00000494322,;SLC11A1,downstream_gene_variant,,ENST00000469449,;SLC11A1,downstream_gene_variant,,ENST00000475225,;SLC11A1,upstream_gene_variant,,ENST00000490536,;SLC11A1,downstream_gene_variant,,ENST00000492413,;SLC11A1,downstream_gene_variant,,ENST00000469799,;SLC11A1,downstream_gene_variant,,ENST00000471875,;SLC11A1,upstream_gene_variant,,ENST00000490872,;SLC11A1,downstream_gene_variant,,ENST00000483487,;SLC11A1,upstream_gene_variant,,ENST00000468721,;SLC11A1,downstream_gene_variant,,ENST00000460592,;	uc002vhv.2	c.816C>T	1156/3852	2	2			c.816C>T						2	SNP	c.(814-816)GCC>GCT	46	46			ovary(3)|central_nervous_system(1)	4	Broad	natural resistance-associated macrophage protein			219254613		0.537	ENSG00000018280	14156	g.chr2:219254613C>T	activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity							84.648994	KEEP	19	11	-1	15	13	19	11	-1	84.666234	15	13	0.52	1	0	0	0	0	0	0	1	0	--	--		0	T			SLC11A1_uc010fvp.1_Silent_p.A272A|SLC11A1_uc010fvq.1_Silent_p.A205A|SLC11A1_uc010zkc.1_Silent_p.A205A|SLC11A1_uc002vhu.1_Silent_p.A67A|SLC11A1_uc002vhw.2_Silent_p.A154A|SLC11A1_uc010fvr.2_Silent_p.A67A	269	GBM-76-4929-TP	p.A272A	C	TAGACCGGGCCCGCCGAGCAG	NM_000578	NP_000569	219254613	P49279	NRAM1_HUMAN	0		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	1156	+	T	T		Renal(207;0.0474)	Silent	272			Cytoplasmic (Potential).			
SLC12A2	6558	broad.mit.edu	GRCh37	5	127520072	127520072	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0686-01	TCGA-06-0686-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262461.2:c.3314A>G	p.Glu1105Gly	p.E1105G	ENST00000262461	NM_001046.2	1105	gAg/gGg	0			1			G	E/G	uc003kus.2	protein_coding	YES	CCDS4144.1			3314/3639									ovary(3)	3	c.(3313-3315)GAG>GGG			hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF58,TIGRFAM_domain:TIGR00930	solute carrier family 12	Bumetanide(DB00887)|Potassium Chloride(DB00761)			ENSP00000262461		25/27									COSM2151540	25/27	.		ENST00000262461	Transcript			potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	ENSG00000064651	g.chr5:127520072A>G	10911			MODERATE		2.85	medium	getma.org/?cm=msa&ty=f&p=S12A2_HUMAN&rb=994&re=1193&var=E1105G	NA	getma.org/?cm=var&var=hg19,5,127520072,A,G&fts=all	E1105G	--	--	1																																		SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.E1089G	1	1		benign(0.06)	p.E1105G	NM_001046	NP_001037		deleterious(0.01)	1	S12A2_HUMAN	SLC12A2	HGNC	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Q53ZR1_HUMAN		25	3478	+		all_cancers(142;0.0972)|Prostate(80;0.151)	UPI000013541A	1105			Cytoplasmic (Potential).		SNV	SLC12A2,missense_variant,p.Glu1105Gly,ENST00000262461,NM_001046.2;SLC12A2,missense_variant,p.Glu1089Gly,ENST00000343225,NM_001256461.1;SLC12A2,non_coding_transcript_exon_variant,,ENST00000507791,;SLC12A2,missense_variant,p.Glu1105Gly,ENST00000509205,;SLC12A2,downstream_gene_variant,,ENST00000502849,;	uc003kus.2	c.3314A>G	3503/6885	3	3			c.3314A>G						5	SNP	c.(3313-3315)GAG>GGG	63	63			ovary(3)	3	Broad	solute carrier family 12		Bumetanide(DB00887)|Potassium Chloride(DB00761)	127520072		0.289	ENSG00000064651	14159	g.chr5:127520072A>G	potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity							53.985125	KEEP	13	7	-1	19	18	13	7	-1	55.165392	19	18	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	G			SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.E1089G	64	GBM-06-0686-TP	p.E1105G	A	ATAGCTTTTGAGGAAATCATT	NM_001046	NP_001037	127520072	P55011	S12A2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	25	3478	+	G	G		all_cancers(142;0.0972)|Prostate(80;0.151)	Missense_Mutation	1105			Cytoplasmic (Potential).			
SLC12A3	0	broad.mit.edu	GRCh37	16	56901059	56901059	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-2629-01	TCGA-19-2629-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000563236.1:c.360C>T	p.Gly120=	p.G120=	ENST00000563236		120	ggC/ggT	0			1			T	G	uc010ccm.2	protein_coding		CCDS58464.1			360/3066									ovary(2)|breast(1)	3	c.(358-360)GGC>GGT			hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF9,TIGRFAM_domain:TIGR00930	solute carrier family 12, member 3 isoform 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)			ENSP00000456149		26-Feb	1.65E-05			0.000118		1.55E-05			rs753383791,COSM3402376	26-Feb	.		ENST00000563236	Transcript	1		sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	ENSG00000070915	g.chr16:56901059C>T	10912			LOW								--	--	1																																		SLC12A3_uc002ekd.3_Silent_p.G120G|SLC12A3_uc010ccn.2_Silent_p.G119G	0,1				p.G120G	NM_001126108	NP_001119580			0,1	S12A3_HUMAN	SLC12A3	HGNC	P55017	S12A3_HUMAN					2	389	+			UPI00005782C2	120			Cytoplasmic (Potential).		SNV	SLC12A3,synonymous_variant,p.=,ENST00000438926,NM_001126108.1,NM_000339.2,NM_001126107.1;SLC12A3,synonymous_variant,p.=,ENST00000563236,;SLC12A3,synonymous_variant,p.=,ENST00000262502,;SLC12A3,synonymous_variant,p.=,ENST00000566786,;	uc010ccm.2	c.360C>T	385/4208	1	1			c.360C>T						16	SNP	c.(358-360)GGC>GGT	15	15			ovary(2)|breast(1)	3	Broad	solute carrier family 12, member 3 isoform 3		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	56901059		0.652	ENSG00000070915	14160	g.chr16:56901059C>T	sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity							13.438069	KEEP	4	4	-1	11	18	4	4	-1	15.54646	11	18	0.214286	1	0	0	0	0	0	0	1	0	--	--		0	T			SLC12A3_uc002ekd.3_Silent_p.G120G|SLC12A3_uc010ccn.2_Silent_p.G119G	166	GBM-19-2629-TP	p.G120G	C	TGGTGGAGGGCGAGGCAGGCA	NM_001126108	NP_001119580	56901059	P55017	S12A3_HUMAN	0			2	389	+	T	T			Silent	120			Cytoplasmic (Potential).			
SLC12A3	0	broad.mit.edu	GRCh37	16	56904089	56904089	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4934-01	TCGA-76-4934-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000563236.1:c.683C>T	p.Ala228Val	p.A228V	ENST00000563236		228	gCc/gTc	0			1			T	A/V	uc010ccm.2	protein_coding		CCDS58464.1			683/3066									ovary(2)|breast(1)	3	c.(682-684)GCC>GTC			Pfam_domain:PF00324,hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF9,TIGRFAM_domain:TIGR00930,Transmembrane_helices:TMhelix	solute carrier family 12, member 3 isoform 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)			ENSP00000456149		26-May									COSM3402377	26-May	.		ENST00000563236	Transcript	1		sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	ENSG00000070915	g.chr16:56904089C>T	10912			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=S12A3_HUMAN&rb=141&re=647&var=A228V	NA	getma.org/?cm=var&var=hg19,16,56904089,C,T&fts=all	A228V	--	--	1																																		SLC12A3_uc002ekd.3_Missense_Mutation_p.A228V|SLC12A3_uc010ccn.2_Missense_Mutation_p.A227V	1			probably_damaging(0.981)	p.A228V	NM_001126108	NP_001119580		deleterious(0)	1	S12A3_HUMAN	SLC12A3	HGNC	P55017	S12A3_HUMAN					5	712	+			UPI00005782C2	228			Helical; (Potential).		SNV	SLC12A3,missense_variant,p.Ala228Val,ENST00000438926,NM_001126108.1,NM_000339.2,NM_001126107.1;SLC12A3,missense_variant,p.Ala227Val,ENST00000262502,;SLC12A3,missense_variant,p.Ala228Val,ENST00000563236,;SLC12A3,missense_variant,p.Ala227Val,ENST00000566786,;	uc010ccm.2	c.683C>T	708/4208	2	2			c.683C>T						16	SNP	c.(682-684)GCC>GTC	26	26			ovary(2)|breast(1)	3	Broad	solute carrier family 12, member 3 isoform 3		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	56904089		0.662	ENSG00000070915	14160	g.chr16:56904089C>T	sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity							-40.954267	KEEP	0	4	-1	103	92	0	4	-1	6.539204	103	92	0.021505	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC12A3_uc002ekd.3_Missense_Mutation_p.A228V|SLC12A3_uc010ccn.2_Missense_Mutation_p.A227V	272	GBM-76-4934-TP	p.A228V	C	TTCGCCAATGCCGTGGGTGTG	NM_001126108	NP_001119580	56904089	P55017	S12A3_HUMAN	0			5	712	+	T	T			Missense_Mutation	228			Helical; (Potential).			
SLC12A3	0	broad.mit.edu	GRCh37	16	56913524	56913524	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs139743444	byFrequency	TCGA-76-6193-01	TCGA-76-6193-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000563236.1:c.1406C>T	p.Ala469Val	p.A469V	ENST00000563236		469	gCc/gTc	0	T:0		1			T	A/V	uc010ccm.2	protein_coding		CCDS58464.1			1406/3066									ovary(2)|breast(1)	3	c.(1405-1407)GCC>GTC			Pfam_domain:PF00324,hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF9,Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR00930,Transmembrane_helices:TMhelix	solute carrier family 12, member 3 isoform 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)		T:0.0003	ENSP00000456149		26-Nov	7.41E-05		8.65E-05			0.000121			rs139743444,COSM3402378	26-Nov	.		ENST00000563236	Transcript	1		sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	ENSG00000070915	g.chr16:56913524C>T	10912			MODERATE		2.535	medium	getma.org/?cm=msa&ty=f&p=S12A3_HUMAN&rb=141&re=647&var=A469V	NA	getma.org/?cm=var&var=hg19,16,56913524,C,T&fts=all	A469V	--	--	1																																		SLC12A3_uc002ekd.3_Missense_Mutation_p.A469V|SLC12A3_uc010ccn.2_Missense_Mutation_p.A468V	0,1			probably_damaging(0.913)	p.A469V	NM_001126108	NP_001119580		deleterious(0)	0,1	S12A3_HUMAN	SLC12A3	HGNC	P55017	S12A3_HUMAN					11	1435	+			UPI00005782C2	469			Helical; (Potential).		SNV	SLC12A3,missense_variant,p.Ala469Val,ENST00000438926,NM_001126108.1,NM_000339.2,NM_001126107.1;SLC12A3,missense_variant,p.Ala468Val,ENST00000262502,;SLC12A3,missense_variant,p.Ala469Val,ENST00000563236,;SLC12A3,missense_variant,p.Ala468Val,ENST00000566786,;	uc010ccm.2	c.1406C>T	1431/4208	2	2			c.1406C>T						16	SNP	c.(1405-1407)GCC>GTC	39	39			ovary(2)|breast(1)	3	Broad	solute carrier family 12, member 3 isoform 3		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	56913524		0.632	ENSG00000070915	14160	g.chr16:56913524C>T	sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity							9.72976	KEEP	2	5	-1	19	23	2	5	-1	14.886007	19	23	0.142857	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC12A3_uc002ekd.3_Missense_Mutation_p.A469V|SLC12A3_uc010ccn.2_Missense_Mutation_p.A468V	276	GBM-76-6193-TP	p.A469V	C	CTCTCCTCTGCCCTGGCCTGC	NM_001126108	NP_001119580	56913524	P55017	S12A3_HUMAN	0			11	1435	+	T	T			Missense_Mutation	469			Helical; (Potential).			
SLC12A4	6560	broad.mit.edu	GRCh37	16	67984224	67984224	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0157-01	TCGA-06-0157-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000422611.2:c.1633C>T	p.Arg545Trp	p.R545W	ENST00000422611	NM_001145962.1	545	Cgg/Tgg	0			1			A	R/W	uc002euz.2	protein_coding		CCDS10855.1			1627/3258									ovary(1)	1	c.(1627-1629)CGG>TGG			Prints_domain:PR01081,TIGRFAM_domain:TIGR00930,Pfam_domain:PF00324,hmmpanther:PTHR11827:SF46,hmmpanther:PTHR11827	solute carrier family 12, member 4 isoform a	Bumetanide(DB00887)|Potassium Chloride(DB00761)			ENSP00000318557		24-Dec	2.47E-05			0.000116		3.05E-05			rs200235448,COSM2150080	24-Dec	.		ENST00000316341	Transcript			cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	ENSG00000124067	g.chr16:67984224G>A	10913			MODERATE		2.475	medium	getma.org/?cm=msa&ty=f&p=S12A4_HUMAN&rb=402&re=696&var=R543W	getma.org/pdb.php?prot=S12A4_HUMAN&from=402&to=696&var=R543W	getma.org/?cm=var&var=hg19,16,67984224,G,A&fts=all	R543W	--	--	1																																		SLC12A4_uc010ceu.2_Missense_Mutation_p.R537W|SLC12A4_uc010vkh.1_Missense_Mutation_p.R512W|SLC12A4_uc010vki.1_Missense_Mutation_p.R543W|SLC12A4_uc010vkj.1_Missense_Mutation_p.R545W|SLC12A4_uc002eva.2_Missense_Mutation_p.R543W|SLC12A4_uc010cev.1_5'Flank|SLC12A4_uc002evb.2_RNA	0,1			benign(0.048)	p.R543W	NM_005072	NP_005063		deleterious(0.01)	0,1	S12A4_HUMAN	SLC12A4	HGNC	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	J3QRE2_HUMAN		12	1768	-		Ovarian(137;0.192)	UPI0000135421	543					SNV	SLC12A4,missense_variant,p.Arg545Trp,ENST00000422611,NM_001145962.1;SLC12A4,missense_variant,p.Arg543Trp,ENST00000316341,NM_001145961.1,NM_005072.4;SLC12A4,missense_variant,p.Arg543Trp,ENST00000576616,;SLC12A4,missense_variant,p.Arg543Trp,ENST00000338335,;SLC12A4,missense_variant,p.Arg512Trp,ENST00000541864,NM_001145964.1;SLC12A4,missense_variant,p.Arg495Trp,ENST00000572037,;SLC12A4,missense_variant,p.Arg537Trp,ENST00000537830,NM_001145963.1;SLC12A4,downstream_gene_variant,,ENST00000571299,;SLC12A4,downstream_gene_variant,,ENST00000572010,;SLC12A4,splice_region_variant,,ENST00000570802,;SLC12A4,splice_region_variant,,ENST00000573023,;SLC12A4,splice_region_variant,,ENST00000574665,;SLC12A4,splice_region_variant,,ENST00000572766,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000572476,;SLC12A4,downstream_gene_variant,,ENST00000576377,;SLC12A4,downstream_gene_variant,,ENST00000573702,;SLC12A4,upstream_gene_variant,,ENST00000575857,;SLC12A4,upstream_gene_variant,,ENST00000576513,;SLC12A4,upstream_gene_variant,,ENST00000570616,;	uc002euz.2	c.1627C>T	1768/3911	2	2			c.1627C>T						16	SNP	c.(1627-1629)CGG>TGG	28	28			ovary(1)	1	Broad	solute carrier family 12, member 4 isoform a		Bumetanide(DB00887)|Potassium Chloride(DB00761)	67984224		0.642	ENSG00000124067	14161	g.chr16:67984224G>A	cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity							85.488836	KEEP	24	11	-1	25	40	24	11	-1	86.911	25	40	0.358025	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC12A4_uc010ceu.2_Missense_Mutation_p.R537W|SLC12A4_uc010vkh.1_Missense_Mutation_p.R512W|SLC12A4_uc010vki.1_Missense_Mutation_p.R543W|SLC12A4_uc010vkj.1_Missense_Mutation_p.R545W|SLC12A4_uc002eva.2_Missense_Mutation_p.R543W|SLC12A4_uc010cev.1_5'Flank|SLC12A4_uc002evb.2_RNA	28	GBM-06-0157-TP	p.R543W	G	GGGCTCACCCGGAGGAAGGGG	NM_005072	NP_005063	67984224	Q9UP95	S12A4_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	12	1768	-	A	A		Ovarian(137;0.192)	Missense_Mutation	543						
SLC12A5	57468	broad.mit.edu	GRCh37	20	44673744	44673744	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01	TCGA-06-2562-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000454036.2:c.1603G>A	p.Ala535Thr	p.A535T	ENST00000454036	NM_001134771.1	535	Gcc/Acc	0			1			A	A/T	uc010zxl.1	protein_coding	YES	CCDS46610.1			1603/3420									ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5	c.(1603-1605)GCC>ACC			hmmpanther:PTHR11827:SF54,hmmpanther:PTHR11827,Pfam_domain:PF00324,TIGRFAM_domain:TIGR00930	solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)			ENSP00000387694		26-Dec									COSM2152767	26-Dec	.		ENST00000454036	Transcript			potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	ENSG00000124140	g.chr20:44673744G>A	13818			MODERATE		3.745	high	getma.org/?cm=msa&ty=f&p=S12A5_HUMAN&rb=412&re=699&var=A535T	getma.org/pdb.php?prot=S12A5_HUMAN&from=412&to=699&var=A535T	getma.org/?cm=var&var=hg19,20,44673744,G,A&fts=all	A535T	--	--	1																																		SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.A512T	1	1		possibly_damaging(0.764)	p.A535T	NM_001134771	NP_001128243		deleterious(0.01)	1	S12A5_HUMAN	SLC12A5	HGNC	Q9H2X9	S12A5_HUMAN			B7Z3I0_HUMAN		12	1679	+		Myeloproliferative disorder(115;0.0122)	UPI00015F4605	535					SNV	SLC12A5,missense_variant,p.Ala512Thr,ENST00000243964,NM_020708.4;SLC12A5,missense_variant,p.Ala535Thr,ENST00000454036,NM_001134771.1;SLC12A5,downstream_gene_variant,,ENST00000372315,;SLC12A5,downstream_gene_variant,,ENST00000608594,;SLC12A5,intron_variant,,ENST00000539566,;	uc010zxl.1	c.1603G>A	1652/3566	2	2			c.1603G>A						20	SNP	c.(1603-1605)GCC>ACC	48	48			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5	Broad	solute carrier family 12 (potassium-chloride		Bumetanide(DB00887)|Potassium Chloride(DB00761)	44673744		0.632	ENSG00000124140	14162	g.chr20:44673744G>A	potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity							216.231946	KEEP	51	42	-1	91	112	51	42	-1	223.44627	91	112	0.323077	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.A512T	85	GBM-06-2562-TP	p.A535T	G	CCTGCTGCAGGCCATCTCGAG	NM_001134771	NP_001128243	44673744	Q9H2X9	S12A5_HUMAN	0			12	1679	+	A	A		Myeloproliferative disorder(115;0.0122)	Missense_Mutation	535						
SLC12A5	0	broad.mit.edu	GRCh37	20	44669236	44669236	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-6450-01	TCGA-28-6450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000454036.2:c.906C>T	p.Phe302=	p.F302=	ENST00000454036	NM_001134771.1	302	ttC/ttT	0			1			T	F	uc010zxl.1	protein_coding	YES	CCDS46610.1			906/3420									ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5	c.(904-906)TTC>TTT			hmmpanther:PTHR11827:SF54,hmmpanther:PTHR11827,TIGRFAM_domain:TIGR00930,Prints_domain:PR01081	solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)			ENSP00000387694		26-Jul	8.24E-06							6.09E-05	rs771523031,COSM3405157	26-Jul	.		ENST00000454036	Transcript			potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	ENSG00000124140	g.chr20:44669236C>T	13818			LOW								--	--	1																																		SLC12A5_uc002xra.2_Silent_p.F279F|SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Silent_p.F279F	0,1	1			p.F302F	NM_001134771	NP_001128243			0,1	S12A5_HUMAN	SLC12A5	HGNC	Q9H2X9	S12A5_HUMAN			B7Z3I0_HUMAN		7	982	+		Myeloproliferative disorder(115;0.0122)	UPI00015F4605	302			Cytoplasmic (Potential).		SNV	SLC12A5,synonymous_variant,p.=,ENST00000243964,NM_020708.4;SLC12A5,synonymous_variant,p.=,ENST00000454036,NM_001134771.1;SLC12A5,synonymous_variant,p.=,ENST00000372315,;SLC12A5,downstream_gene_variant,,ENST00000608944,;SLC12A5,upstream_gene_variant,,ENST00000608594,;SLC12A5,intron_variant,,ENST00000539566,;	uc010zxl.1	c.906C>T	955/3566	2	2			c.906C>T						20	SNP	c.(904-906)TTC>TTT	33	33			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5	Broad	solute carrier family 12 (potassium-chloride		Bumetanide(DB00887)|Potassium Chloride(DB00761)	44669236		0.557	ENSG00000124140	14162	g.chr20:44669236C>T	potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity							28.871353	KEEP	7	9	-1	21	32	7	9	-1	33.486179	21	32	0.206897	1	0	0	0	0	0	0	1	0	--	--		0	T			SLC12A5_uc002xra.2_Silent_p.F279F|SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Silent_p.F279F	227	GBM-28-6450-TP	p.F302F	C	AGTCTGCCTTCGACCCACCCA	NM_001134771	NP_001128243	44669236	Q9H2X9	S12A5_HUMAN	0			7	982	+	T	T		Myeloproliferative disorder(115;0.0122)	Silent	302			Cytoplasmic (Potential).			
SLC12A5	0	broad.mit.edu	GRCh37	20	44674611	44674611	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-41-5651-01	TCGA-41-5651-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000454036.2:c.1733A>G	p.Asp578Gly	p.D578G	ENST00000454036	NM_001134771.1	578	gAc/gGc	0			1			G	D/G	uc010zxl.1	protein_coding	YES	CCDS46610.1			1733/3420									ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5	c.(1732-1734)GAC>GGC			hmmpanther:PTHR11827:SF54,hmmpanther:PTHR11827,Pfam_domain:PF00324,TIGRFAM_domain:TIGR00930	solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)			ENSP00000387694		13/26									COSM3405158	13/26	.		ENST00000454036	Transcript			potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	ENSG00000124140	g.chr20:44674611A>G	13818			MODERATE		3.615	high	getma.org/?cm=msa&ty=f&p=S12A5_HUMAN&rb=412&re=699&var=D578G	getma.org/pdb.php?prot=S12A5_HUMAN&from=412&to=699&var=D578G	getma.org/?cm=var&var=hg19,20,44674611,A,G&fts=all	D578G	--	--	1																																		SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.D555G	1	1		probably_damaging(0.966)	p.D578G	NM_001134771	NP_001128243		deleterious(0.02)	1	S12A5_HUMAN	SLC12A5	HGNC	Q9H2X9	S12A5_HUMAN			B7Z3I0_HUMAN		13	1809	+		Myeloproliferative disorder(115;0.0122)	UPI00015F4605	578			Helical; (Potential).		SNV	SLC12A5,missense_variant,p.Asp555Gly,ENST00000243964,NM_020708.4;SLC12A5,missense_variant,p.Asp578Gly,ENST00000454036,NM_001134771.1;SLC12A5,downstream_gene_variant,,ENST00000372315,;SLC12A5,downstream_gene_variant,,ENST00000608594,;SLC12A5,3_prime_UTR_variant,,ENST00000539566,;	uc010zxl.1	c.1733A>G	1782/3566	3	3			c.1733A>G						20	SNP	c.(1732-1734)GAC>GGC	49	49			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5	Broad	solute carrier family 12 (potassium-chloride		Bumetanide(DB00887)|Potassium Chloride(DB00761)	44674611		0.597	ENSG00000124140	14162	g.chr20:44674611A>G	potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity							179.010596	KEEP	33	32	-1	61	91	33	32	-1	185.27858	61	91	0.306878	1	0	0	0	0	1	0	0	0	--	--		0	G			SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.D555G	258	GBM-41-5651-TP	p.D578G	A	GCATCCCTCGACGAGGTGGCC	NM_001134771	NP_001128243	44674611	Q9H2X9	S12A5_HUMAN	0			13	1809	+	G	G		Myeloproliferative disorder(115;0.0122)	Missense_Mutation	578			Helical; (Potential).			
SLC12A6	0	broad.mit.edu	GRCh37	15	34528395	34528395	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-12-0692-01	TCGA-12-0692-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354181.3:c.3048A>G	p.Gln1016=	p.Q1016=	ENST00000354181		1016	caA/caG	0			1			C	Q	uc001zhw.2	protein_coding	YES	CCDS58352.1			3048/3453									central_nervous_system(5)|ovary(1)|skin(1)	7	c.(3046-3048)CAA>CAG			hmmpanther:PTHR11827:SF51,hmmpanther:PTHR11827,TIGRFAM_domain:TIGR00930	solute carrier family 12, member 6 isoform a	Potassium Chloride(DB00761)			ENSP00000346112		24/26	8.24E-06		8.79E-05						rs755892310,COSM2154290,COSM3401684,COSM2154289	24/26	.		ENST00000354181	Transcript	1		angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	ENSG00000140199	g.chr15:34528395T>C	10914			LOW								--	--	1																																		SLC12A6_uc001zhv.2_Silent_p.Q965Q|SLC12A6_uc001zhx.2_Silent_p.Q1001Q|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Silent_p.Q957Q|SLC12A6_uc001zib.2_Silent_p.Q1007Q|SLC12A6_uc001zic.2_Silent_p.Q1016Q|SLC12A6_uc010bau.2_Silent_p.Q1016Q|SLC12A6_uc001zid.2_Silent_p.Q957Q|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Silent_p.Q828Q	0,1,1,1	1			p.Q1016Q	NM_133647	NP_598408			0,1,1,1	S12A6_HUMAN	SLC12A6	HGNC	Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	H0YNJ5_HUMAN,H0YKL8_HUMAN,H0YKJ2_HUMAN,H0YKE6_HUMAN		23	3212	-		all_lung(180;2.78e-08)	UPI0000135427	1016			Cytoplasmic (Potential).		SNV	SLC12A6,synonymous_variant,p.=,ENST00000354181,;SLC12A6,synonymous_variant,p.=,ENST00000458406,NM_001042494.1;SLC12A6,synonymous_variant,p.=,ENST00000560611,NM_133647.1;SLC12A6,synonymous_variant,p.=,ENST00000397707,NM_001042497.1;SLC12A6,synonymous_variant,p.=,ENST00000397702,NM_001042495.1;SLC12A6,synonymous_variant,p.=,ENST00000558589,NM_001042496.1;SLC12A6,synonymous_variant,p.=,ENST00000290209,NM_005135.2;SLC12A6,synonymous_variant,p.=,ENST00000560164,;SLC12A6,synonymous_variant,p.=,ENST00000558667,;SLC12A6,synonymous_variant,p.=,ENST00000451844,;SLC12A6,3_prime_UTR_variant,,ENST00000561080,;SLC12A6,3_prime_UTR_variant,,ENST00000559664,;SLC12A6,3_prime_UTR_variant,,ENST00000559523,;SLC12A6,downstream_gene_variant,,ENST00000558950,;SLC12A6,downstream_gene_variant,,ENST00000559076,;SLC12A6,downstream_gene_variant,,ENST00000560023,;SLC12A6,downstream_gene_variant,,ENST00000559441,;	uc001zhw.2	c.3048A>G	3541/4568	3	3			c.3048A>G						15	SNP	c.(3046-3048)CAA>CAG	13	13			central_nervous_system(5)|ovary(1)|skin(1)	7	Broad	solute carrier family 12, member 6 isoform a		Potassium Chloride(DB00761)	34528395		0.413	ENSG00000140199	14163	g.chr15:34528395T>C	angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity							145.285857	KEEP	27	14	-1	33	23	27	14	-1	145.8023	33	23	0.421053	1	0	0	0	0	0	0	1	0	--	--		0	C			SLC12A6_uc001zhv.2_Silent_p.Q965Q|SLC12A6_uc001zhx.2_Silent_p.Q1001Q|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Silent_p.Q957Q|SLC12A6_uc001zib.2_Silent_p.Q1007Q|SLC12A6_uc001zic.2_Silent_p.Q1016Q|SLC12A6_uc010bau.2_Silent_p.Q1016Q|SLC12A6_uc001zid.2_Silent_p.Q957Q|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Silent_p.Q828Q	122	GBM-12-0692-TP	p.Q1016Q	T	CTTTCACCAATTGTGCCTGAG	NM_133647	NP_598408	34528395	Q9UHW9	S12A6_HUMAN	0		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	23	3212	-	C	C		all_lung(180;2.78e-08)	Silent	1016			Cytoplasmic (Potential).			
SLC12A7	0	broad.mit.edu	GRCh37	5	1085433	1085433	+	synonymous_variant	Silent	SNP	C	C	T	rs112522540		TCGA-19-2625-01	TCGA-19-2625-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264930.5:c.831G>A	p.Ala277=	p.A277=	ENST00000264930	NM_006598.2	277	gcG/gcA	0		T:0.0008	1	T:0		T	A	uc003jbu.2	protein_coding	YES	CCDS34129.1			831/3252									skin(2)|large_intestine(1)|ovary(1)	4	c.(829-831)GCG>GCA			Pfam_domain:PF00324,Prints_domain:PR01081,hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF47,TIGRFAM_domain:TIGR00930,Transmembrane_helices:TMhelix	solute carrier family 12 (potassium/chloride	Potassium Chloride(DB00761)	T:0		ENSP00000264930	T:0	24-Jul	6.61E-05					3.20E-05		0.000317	rs112522540,COSM2990429	24-Jul	.		ENST00000264930	Transcript		T:0.0002	potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	ENSG00000113504	g.chr5:1085433C>T	10915			LOW								--	--	1																																			0,1	1			p.A277A	NM_006598	NP_006589	T:0		0,1	S12A7_HUMAN	SLC12A7	HGNC	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)				7	897	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		UPI0000141815	277			Helical; (Potential).		SNV	SLC12A7,synonymous_variant,p.=,ENST00000264930,NM_006598.2;SLC12A7,upstream_gene_variant,,ENST00000510943,;	uc003jbu.2	c.831G>A	875/5272	2	2			c.831G>A						5	SNP	c.(829-831)GCG>GCA	43	43			skin(2)|large_intestine(1)|ovary(1)	4	Broad	solute carrier family 12 (potassium/chloride		Potassium Chloride(DB00761)	1085433		0.637	ENSG00000113504	14164	g.chr5:1085433C>T	potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity							37.036728	KEEP	7	7	-1	14	17	7	7	-1	38.069673	14	17	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	T				165	GBM-19-2625-TP	p.A277A	C	GGAAGACCAGCGCCAGCTTGT	NM_006598	NP_006589	1085433	Q9Y666	S12A7_HUMAN	0	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		7	897	-	T	T	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Silent	277			Helical; (Potential).			
SLC12A9	56996	broad.mit.edu	GRCh37	7	100459452	100459452	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354161.3:c.1630G>C	p.Ala544Pro	p.A544P	ENST00000354161	NM_020246.3	544	Gcc/Ccc	0			1			C	A/P	uc003uwp.2	protein_coding	YES	CCDS5707.1			1630/2745										0	c.(1630-1632)GCC>CCC			hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF52	solute carrier family 12 (potassium/chloride				ENSP00000275730		14-Dec	0.000733	0.00102	8.70E-05	0.000116	0.00244	0.000619	0.00117		rs758620604,COSM484501	14-Dec	common_variant		ENST00000354161	Transcript				integral to membrane|plasma membrane	cation:chloride symporter activity	ENSG00000146828	g.chr7:100459452G>C	17435			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=S12A9_HUMAN&rb=537&re=736&var=A544P	NA	getma.org/?cm=var&var=hg19,7,100459452,G,C&fts=all	A544P	--	--	1																																		SLC12A9_uc003uwq.2_Missense_Mutation_p.A455P|SLC12A9_uc011kki.1_Missense_Mutation_p.A75P|SLC12A9_uc003uwr.2_Missense_Mutation_p.A280P|SLC12A9_uc003uws.2_Missense_Mutation_p.A75P|SLC12A9_uc003uwt.2_Missense_Mutation_p.A280P|SLC12A9_uc003uwv.2_Missense_Mutation_p.A75P	0,1	1		benign(0.346)	p.A544P	NM_020246	NP_064631		deleterious(0.05)	0,1	S12A9_HUMAN	SLC12A9	HGNC	Q9BXP2	S12A9_HUMAN			D6W5X5_HUMAN,D6W5X3_HUMAN,C9JMQ7_HUMAN,C9J0I5_HUMAN		12	1772	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		UPI000006CD28	544			Extracellular (Potential).		SNV	SLC12A9,missense_variant,p.Ala544Pro,ENST00000354161,NM_020246.3;SLC12A9,missense_variant,p.Ala544Pro,ENST00000540482,NM_001267812.1;SLC12A9,missense_variant,p.Ala544Pro,ENST00000428758,;SLC12A9,missense_variant,p.Ala455Pro,ENST00000415287,NM_001267814.1;SLC12A9,missense_variant,p.Ala455Pro,ENST00000275729,;SLC12A9,downstream_gene_variant,,ENST00000418037,;SLC12A9,downstream_gene_variant,,ENST00000416675,;SLC12A9,non_coding_transcript_exon_variant,,ENST00000482184,;SLC12A9,downstream_gene_variant,,ENST00000475623,;SLC12A9,downstream_gene_variant,,ENST00000461016,;SLC12A9,non_coding_transcript_exon_variant,,ENST00000487651,;SLC12A9,non_coding_transcript_exon_variant,,ENST00000467972,;SLC12A9,non_coding_transcript_exon_variant,,ENST00000475687,;SLC12A9,downstream_gene_variant,,ENST00000497958,;SLC12A9,downstream_gene_variant,,ENST00000448342,;	uc003uwp.2	c.1630G>C	1755/3273	4	4			c.1630G>C						7	SNP	c.(1630-1632)GCC>CCC	44	44				0	Broad	solute carrier family 12 (potassium/chloride			100459452		0.657	ENSG00000146828	14166	g.chr7:100459452G>C		integral to membrane|plasma membrane	cation:chloride symporter activity							-4.576795	KEEP	15	7	-1	45	43	15	7	-1	6.487196	45	43	0.092308	1	0	0	0	0	1	0	0	0	--	--		0	C			SLC12A9_uc003uwq.2_Missense_Mutation_p.A455P|SLC12A9_uc011kki.1_Missense_Mutation_p.A75P|SLC12A9_uc003uwr.2_Missense_Mutation_p.A280P|SLC12A9_uc003uws.2_Missense_Mutation_p.A75P|SLC12A9_uc003uwt.2_Missense_Mutation_p.A280P|SLC12A9_uc003uwv.2_Missense_Mutation_p.A75P	18	GBM-06-0137-TP	p.A544P	G	CCCCCGGGGCGCCCTGCCTCT	NM_020246	NP_064631	100459452	Q9BXP2	S12A9_HUMAN	0			12	1772	+	C	C	Lung NSC(181;0.041)|all_lung(186;0.0581)		Missense_Mutation	544			Extracellular (Potential).			
SLC12A9	0	broad.mit.edu	GRCh37	7	100451836	100451836	+	stop_gained	Nonsense_Mutation	SNP	C	C	G			TCGA-26-6174-01	TCGA-26-6174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354161.3:c.17C>G	p.Ser6Ter	p.S6*	ENST00000354161	NM_020246.3	6	tCa/tGa	0			1			G	S/*	uc003uwp.2	protein_coding	YES	CCDS5707.1			17/2745										0	c.(16-18)TCA>TGA			hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF52	solute carrier family 12 (potassium/chloride				ENSP00000275730		14-Feb									COSM3411386,COSM3411387	14-Feb	.		ENST00000354161	Transcript				integral to membrane|plasma membrane	cation:chloride symporter activity	ENSG00000146828	g.chr7:100451836C>G	17435			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,100451836,C,G&fts=all	S6*	--	--	1																																		SLC12A9_uc003uwo.1_Nonsense_Mutation_p.S6*|SLC12A9_uc003uwq.2_Nonsense_Mutation_p.S6*|SLC12A9_uc011kki.1_Intron|SLC12A9_uc003uwr.2_5'Flank|SLC12A9_uc003uws.2_5'Flank|SLC12A9_uc003uwt.2_5'Flank	1,1	1			p.S6*	NM_020246	NP_064631			1,1	S12A9_HUMAN	SLC12A9	HGNC	Q9BXP2	S12A9_HUMAN			D6W5X5_HUMAN,D6W5X3_HUMAN,C9JMQ7_HUMAN,C9J0I5_HUMAN		2	159	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		UPI000006CD28	6			Cytoplasmic (Potential).		SNV	SLC12A9,stop_gained,p.Ser6Ter,ENST00000354161,NM_020246.3;SLC12A9,stop_gained,p.Ser6Ter,ENST00000540482,NM_001267812.1;SLC12A9,stop_gained,p.Ser6Ter,ENST00000428758,;SLC12A9,stop_gained,p.Ser6Ter,ENST00000415287,NM_001267814.1;SLC12A9,stop_gained,p.Ser6Ter,ENST00000275729,;SLC12A9,stop_gained,p.Ser6Ter,ENST00000416675,;SLC12A9,stop_gained,p.Ser6Ter,ENST00000434158,;SLC12A9,intron_variant,,ENST00000418037,;RP11-126L15.4,upstream_gene_variant,,ENST00000412754,;SLC12A9,intron_variant,,ENST00000461016,;SLC12A9,upstream_gene_variant,,ENST00000475623,;SLC12A9,non_coding_transcript_exon_variant,,ENST00000462106,;SLC12A9,intron_variant,,ENST00000448342,;SLC12A9,upstream_gene_variant,,ENST00000487651,;SLC12A9,upstream_gene_variant,,ENST00000467972,;SLC12A9,upstream_gene_variant,,ENST00000475687,;SLC12A9,upstream_gene_variant,,ENST00000497958,;	uc003uwp.2	c.17C>G	142/3273	5	3			c.17C>G						7	SNP	c.(16-18)TCA>TGA	55	55				0	Broad	solute carrier family 12 (potassium/chloride			100451836		0.632	ENSG00000146828	14166	g.chr7:100451836C>G		integral to membrane|plasma membrane	cation:chloride symporter activity							11.884592	KEEP	6	4	-1	36	43	6	4	-1	22.618751	36	43	0.12	1	0	0	0	0	0	1	0	0	--	--		0	G			SLC12A9_uc003uwo.1_Nonsense_Mutation_p.S6*|SLC12A9_uc003uwq.2_Nonsense_Mutation_p.S6*|SLC12A9_uc011kki.1_Intron|SLC12A9_uc003uwr.2_5'Flank|SLC12A9_uc003uws.2_5'Flank|SLC12A9_uc003uwt.2_5'Flank	188	GBM-26-6174-TP	p.S6*	C	AGCGAGAGCTCACCTCTGCTG	NM_020246	NP_064631	100451836	Q9BXP2	S12A9_HUMAN	0			2	159	+	G	G	Lung NSC(181;0.041)|all_lung(186;0.0581)		Nonsense_Mutation	6			Cytoplasmic (Potential).			
SLC13A2	9058	broad.mit.edu	GRCh37	17	26816246	26816246	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0875-01	TCGA-06-0875-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000444914.3:c.117G>A	p.Ala39=	p.A39=	ENST00000444914	NM_001145975.1	39	gcG/gcA	0		A:0.0008	1	A:0		A	A	uc002hbh.2	protein_coding		CCDS11231.1			117/1779										0	c.(115-117)GCG>GCA			Pfam_domain:PF00939,hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF66	solute carrier family 13, member 2 isoform b	Succinic acid(DB00139)	A:0		ENSP00000316202	A:0	12-Feb	4.12E-05	9.61E-05				3.00E-05	0.0011	6.07E-05	rs181965873,COSM1640618,COSM1640617	12-Feb	.		ENST00000314669	Transcript		A:0.0002		integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	ENSG00000007216	g.chr17:26816246G>A	10917			LOW								--	--	1																																		SLC13A2_uc010wal.1_Intron|SLC13A2_uc010wam.1_5'UTR|SLC13A2_uc010wan.1_Silent_p.A39A|SLC13A2_uc010wao.1_Intron|SLC13A2_uc002hbi.2_5'UTR	0,1,1				p.A39A	NM_003984	NP_003975	A:0		0,1,1	S13A2_HUMAN	SLC13A2	HGNC	Q13183	S13A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)			2	184	+	all_lung(13;0.000871)|Lung NSC(42;0.0027)		UPI000013542C	39					SNV	SLC13A2,synonymous_variant,p.=,ENST00000444914,NM_001145975.1;SLC13A2,synonymous_variant,p.=,ENST00000314669,NM_003984.3;SLC13A2,5_prime_UTR_variant,,ENST00000537681,;SLC13A2,intron_variant,,ENST00000545060,;SLC13A2,3_prime_UTR_variant,,ENST00000459818,;SLC13A2,3_prime_UTR_variant,,ENST00000579281,;SLC13A2,3_prime_UTR_variant,,ENST00000577903,;RP11-192H23.4,intron_variant,,ENST00000481916,;SLC13A2,intron_variant,,ENST00000541739,;	uc002hbh.2	c.117G>A	537/2711	1	1			c.117G>A						17	SNP	c.(115-117)GCG>GCA	50	50				0	Broad	solute carrier family 13, member 2 isoform b		Succinic acid(DB00139)	26816246		0.612	ENSG00000007216	14168	g.chr17:26816246G>A		integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity							172.120631	KEEP	33	32	-1	47	45	33	32	-1	173.310557	47	45	0.402778	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC13A2_uc010wal.1_Intron|SLC13A2_uc010wam.1_5'UTR|SLC13A2_uc010wan.1_Silent_p.A39A|SLC13A2_uc010wao.1_Intron|SLC13A2_uc002hbi.2_5'UTR	71	GBM-06-0875-TP	p.A39A	G	CCTACTGCGCGTATGCCATCA	NM_003984	NP_003975	26816246	Q13183	S13A2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	2	184	+	A	A	all_lung(13;0.000871)|Lung NSC(42;0.0027)		Silent	39						
SLC13A2	0	broad.mit.edu	GRCh37	17	26818573	26818573	+	synonymous_variant	Silent	SNP	C	C	T	rs146824818		TCGA-32-2491-01	TCGA-32-2491-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314669.5:c.693C>T	p.Ile231=	p.I231=	ENST00000314669	NM_003984.3	231	atC/atT	0	T:0		1			T	I	uc002hbh.2	protein_coding		CCDS11231.1			693/1779										0	c.(691-693)ATC>ATT			Pfam_domain:PF00939,hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF66	solute carrier family 13, member 2 isoform b	Succinic acid(DB00139)		T:0.0002	ENSP00000316202		12-May									rs146824818,COSM3402684,COSM3402683	12-May	.		ENST00000314669	Transcript				integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	ENSG00000007216	g.chr17:26818573C>T	10917			LOW								--	--	1																																		SLC13A2_uc010wal.1_Silent_p.I188I|SLC13A2_uc010wam.1_Silent_p.I187I|SLC13A2_uc010wan.1_Silent_p.I280I|SLC13A2_uc010wao.1_Silent_p.I188I|SLC13A2_uc002hbi.2_Silent_p.I160I	0,1,1				p.I231I	NM_003984	NP_003975			0,1,1	S13A2_HUMAN	SLC13A2	HGNC	Q13183	S13A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)			5	760	+	all_lung(13;0.000871)|Lung NSC(42;0.0027)		UPI000013542C	231			Helical; (Potential).		SNV	SLC13A2,synonymous_variant,p.=,ENST00000444914,NM_001145975.1;SLC13A2,synonymous_variant,p.=,ENST00000314669,NM_003984.3;SLC13A2,synonymous_variant,p.=,ENST00000537681,;SLC13A2,synonymous_variant,p.=,ENST00000545060,;SLC13A2,3_prime_UTR_variant,,ENST00000459818,;SLC13A2,3_prime_UTR_variant,,ENST00000579281,;SLC13A2,3_prime_UTR_variant,,ENST00000577903,;SLC13A2,non_coding_transcript_exon_variant,,ENST00000541739,;RP11-192H23.4,intron_variant,,ENST00000481916,;	uc002hbh.2	c.693C>T	1113/2711	1	1			c.693C>T						17	SNP	c.(691-693)ATC>ATT	16	16				0	Broad	solute carrier family 13, member 2 isoform b		Succinic acid(DB00139)	26818573		0.632	ENSG00000007216	14168	g.chr17:26818573C>T		integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity							101.769178	KEEP	17	23	-1	22	33	17	23	-1	101.956882	22	33	0.445946	1	0	0	0	0	0	0	1	0	--	--		0	T			SLC13A2_uc010wal.1_Silent_p.I188I|SLC13A2_uc010wam.1_Silent_p.I187I|SLC13A2_uc010wan.1_Silent_p.I280I|SLC13A2_uc010wao.1_Silent_p.I188I|SLC13A2_uc002hbi.2_Silent_p.I160I	235	GBM-32-2491-TP	p.I231I	C	CCGCCAGCATCGGGGGCATCG	NM_003984	NP_003975	26818573	Q13183	S13A2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	5	760	+	T	T	all_lung(13;0.000871)|Lung NSC(42;0.0027)		Silent	231			Helical; (Potential).			
SLC13A3	0	broad.mit.edu	GRCh37	20	45194937	45194937	+	synonymous_variant	Silent	SNP	G	G	A	rs147641404		TCGA-12-0688-01	TCGA-12-0688-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000279027.4:c.1425C>T	p.Ile475=	p.I475=	ENST00000279027	NM_001193342.1	475	atC/atT	0	T:0		1			A	I	uc002xsf.1	protein_coding	YES	CCDS13400.1			1425/1809									ovary(1)	1	c.(1423-1425)ATC>ATT			Transmembrane_helices:TMhelix,hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF62,Pfam_domain:PF00939	solute carrier family 13 member 3 isoform a	Succinic acid(DB00139)		T:0.0003	ENSP00000279027		13-Nov	3.29E-05	0.000193				3.02E-05			rs147641404,COSM1412200	13-Nov	.		ENST00000279027	Transcript				integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	ENSG00000158296	g.chr20:45194937G>A	14430			LOW								--	--	1																																		SLC13A3_uc010ghn.1_Silent_p.I444I|SLC13A3_uc010zxw.1_Silent_p.I425I|SLC13A3_uc002xsg.1_Silent_p.I428I|SLC13A3_uc010gho.1_Silent_p.I393I|SLC13A3_uc010zxx.1_Silent_p.I377I|SLC13A3_uc002xse.1_5'Flank|SLC13A3_uc010ghm.1_Silent_p.I62I|SLC13A3_uc010zxv.1_Silent_p.I60I	0,1	1			p.I475I	NM_022829	NP_073740			0,1	S13A3_HUMAN	SLC13A3	HGNC	Q8WWT9	S13A3_HUMAN			F6WI18_HUMAN,C9J7L4_HUMAN		11	1463	-		Myeloproliferative disorder(115;0.0122)	UPI000013542F	475			Helical; (Potential).		SNV	SLC13A3,synonymous_variant,p.=,ENST00000279027,NM_001193342.1,NM_022829.5;SLC13A3,synonymous_variant,p.=,ENST00000290317,NM_001011554.2;SLC13A3,synonymous_variant,p.=,ENST00000396360,;SLC13A3,synonymous_variant,p.=,ENST00000435032,;SLC13A3,synonymous_variant,p.=,ENST00000472148,NM_001193340.1;SLC13A3,synonymous_variant,p.=,ENST00000413164,NM_001193339.1;SLC13A3,synonymous_variant,p.=,ENST00000495082,;SLC13A3,downstream_gene_variant,,ENST00000468915,;	uc002xsf.1	c.1425C>T	1444/4017	1	1			c.1425C>T						20	SNP	c.(1423-1425)ATC>ATT	56	56			ovary(1)	1	Broad	solute carrier family 13 member 3 isoform a		Succinic acid(DB00139)	45194937		0.617	ENSG00000158296	14169	g.chr20:45194937G>A		integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity							243.820604	KEEP	44	52	-1	99	141	44	52	-1	256.411016	99	141	0.290625	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC13A3_uc010ghn.1_Silent_p.I444I|SLC13A3_uc010zxw.1_Silent_p.I425I|SLC13A3_uc002xsg.1_Silent_p.I428I|SLC13A3_uc010gho.1_Silent_p.I393I|SLC13A3_uc010zxx.1_Silent_p.I377I|SLC13A3_uc002xse.1_5'Flank|SLC13A3_uc010ghm.1_Silent_p.I62I|SLC13A3_uc010zxv.1_Silent_p.I60I	121	GBM-12-0688-TP	p.I475I	G	TGAAGAAGGCGATGACCACAG	NM_022829	NP_073740	45194937	Q8WWT9	S13A3_HUMAN	0			11	1463	-	A	A		Myeloproliferative disorder(115;0.0122)	Silent	475			Helical; (Potential).			
SLC13A3	0	broad.mit.edu	GRCh37	20	45204315	45204315	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-41-3392-01	TCGA-41-3392-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000279027.4:c.1229C>G	p.Thr410Arg	p.T410R	ENST00000279027	NM_001193342.1	410	aCa/aGa	0			1			C	T/R	uc002xsf.1	protein_coding	YES	CCDS13400.1			1229/1809									ovary(1)	1	c.(1228-1230)ACA>AGA			hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF62,Pfam_domain:PF00939	solute carrier family 13 member 3 isoform a	Succinic acid(DB00139)			ENSP00000279027		13-Oct									COSM3405163	13-Oct	.		ENST00000279027	Transcript				integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	ENSG00000158296	g.chr20:45204315G>C	14430			MODERATE		1.02	low	getma.org/?cm=msa&ty=f&p=S13A3_HUMAN&rb=9&re=573&var=T410R	NA	getma.org/?cm=var&var=hg19,20,45204315,G,C&fts=all	T410R	--	--	1																																		SLC13A3_uc010ghn.1_Missense_Mutation_p.T379R|SLC13A3_uc010zxw.1_Missense_Mutation_p.T360R|SLC13A3_uc002xsg.1_Missense_Mutation_p.T363R|SLC13A3_uc010gho.1_Missense_Mutation_p.T328R|SLC13A3_uc010zxx.1_Missense_Mutation_p.T312R|SLC13A3_uc010zxv.1_Intron	1	1		benign(0.049)	p.T410R	NM_022829	NP_073740		tolerated(0.33)	1	S13A3_HUMAN	SLC13A3	HGNC	Q8WWT9	S13A3_HUMAN			F6WI18_HUMAN,C9J7L4_HUMAN		10	1267	-		Myeloproliferative disorder(115;0.0122)	UPI000013542F	410			Cytoplasmic (Potential).		SNV	SLC13A3,missense_variant,p.Thr410Arg,ENST00000279027,NM_001193342.1,NM_022829.5;SLC13A3,missense_variant,p.Thr363Arg,ENST00000290317,NM_001011554.2;SLC13A3,missense_variant,p.Thr328Arg,ENST00000396360,;SLC13A3,missense_variant,p.Thr328Arg,ENST00000472148,NM_001193340.1;SLC13A3,missense_variant,p.Thr360Arg,ENST00000413164,NM_001193339.1;SLC13A3,missense_variant,p.Thr363Arg,ENST00000495082,;SLC13A3,missense_variant,p.Thr363Arg,ENST00000468915,;SLC13A3,intron_variant,,ENST00000435032,;	uc002xsf.1	c.1229C>G	1248/4017	4	4			c.1229C>G						20	SNP	c.(1228-1230)ACA>AGA	43	43			ovary(1)	1	Broad	solute carrier family 13 member 3 isoform a		Succinic acid(DB00139)	45204315		0.622	ENSG00000158296	14169	g.chr20:45204315G>C		integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity							31.605336	KEEP	5	4	-1	0	3	5	4	-1	32.117391	0	3	0.727273	1	0	0	0	0	1	0	0	0	--	--		0	C			SLC13A3_uc010ghn.1_Missense_Mutation_p.T379R|SLC13A3_uc010zxw.1_Missense_Mutation_p.T360R|SLC13A3_uc002xsg.1_Missense_Mutation_p.T363R|SLC13A3_uc010gho.1_Missense_Mutation_p.T328R|SLC13A3_uc010zxx.1_Missense_Mutation_p.T312R|SLC13A3_uc010zxv.1_Intron	254	GBM-41-3392-TP	p.T410R	G	CTCTGTCTCTGTGTTGGGAGC	NM_022829	NP_073740	45204315	Q8WWT9	S13A3_HUMAN	0			10	1267	-	C	C		Myeloproliferative disorder(115;0.0122)	Missense_Mutation	410			Cytoplasmic (Potential).			
SLC13A4	0	broad.mit.edu	GRCh37	7	135376342	135376342	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-3650-01	TCGA-12-3650-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354042.4:c.1272C>T	p.Leu424=	p.L424=	ENST00000354042	NM_012450.2	424	ctC/ctT	0			1			A	L	uc003vta.2	protein_coding	YES	CCDS5840.1			1272/1881										0	c.(1270-1272)CTC>CTT			Transmembrane_helices:TMhelix,Pfam_domain:PF00939,hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF63	solute carrier family 13 (sodium/sulfate				ENSP00000297282		16-Dec									COSM3411617	16-Dec	.		ENST00000354042	Transcript				integral to plasma membrane	sodium:sulfate symporter activity	ENSG00000164707	g.chr7:135376342G>A	15827			LOW								--	--	1																																		SLC13A4_uc003vtb.2_Silent_p.L425L|PL-5283_uc003vsz.3_RNA	1	1			p.L424L	NM_012450	NP_036582			1	S13A4_HUMAN	SLC13A4	HGNC	Q9UKG4	S13A4_HUMAN					12	1961	-			UPI00000343D9	424			Helical; (Potential).		SNV	SLC13A4,synonymous_variant,p.=,ENST00000354042,NM_012450.2;C7orf73,non_coding_transcript_exon_variant,,ENST00000422968,;C7orf73,non_coding_transcript_exon_variant,,ENST00000509448,;SLC13A4,non_coding_transcript_exon_variant,,ENST00000471405,;	uc003vta.2	c.1272C>T	1962/2897	1	1			c.1272C>T						7	SNP	c.(1270-1272)CTC>CTT	59	59				0	Broad	solute carrier family 13 (sodium/sulfate			135376342		0.478	ENSG00000164707	14170	g.chr7:135376342G>A		integral to plasma membrane	sodium:sulfate symporter activity							97.463233	KEEP	27	14	-1	54	58	27	14	-1	103.714034	54	58	0.269231	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC13A4_uc003vtb.2_Silent_p.L425L|PL-5283_uc003vsz.3_RNA	126	GBM-12-3650-TP	p.L424L	G	GAATGAGGAAGAGGAGGAAGC	NM_012450	NP_036582	135376342	Q9UKG4	S13A4_HUMAN	0			12	1961	-	A	A			Silent	424			Helical; (Potential).			
SLC13A5	284111	broad.mit.edu	GRCh37	17	6604344	6604344	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs77405963		TCGA-06-0122-01	TCGA-06-0122-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000433363.2:c.818A>C	p.Gln273Pro	p.Q273P	ENST00000433363	NM_177550.3	273	cAg/cCg	0			1			G	Q/P	uc002gdj.2	protein_coding	YES	CCDS11079.1			818/1707										0	c.(817-819)CAG>CCG			Pfam_domain:PF00939,hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF64,Transmembrane_helices:TMhelix	solute carrier family 13, member 5 isoform a				ENSP00000406220		12-Jun									rs77405963,COSM3748023	12-Jun	.		ENST00000433363	Transcript	1			integral to membrane	citrate transmembrane transporter activity	ENSG00000141485	g.chr17:6604344T>G	23089			MODERATE		3.385	medium	getma.org/?cm=msa&ty=f&p=S13A5_HUMAN&rb=8&re=554&var=Q273P	NA	getma.org/?cm=var&var=hg19,17,6604344,T,G&fts=all	Q273P	--	--	1																																		SLC13A5_uc010vtf.1_Missense_Mutation_p.Q273P|SLC13A5_uc010clq.2_Missense_Mutation_p.Q230P|SLC13A5_uc002gdk.2_Missense_Mutation_p.Q256P|SLC13A5_uc002gdl.1_Missense_Mutation_p.Q255P	0,1	1		benign(0.044)	p.Q273P	NM_177550	NP_808218		deleterious(0)	0,1	S13A5_HUMAN	SLC13A5	HGNC	Q86YT5	S13A5_HUMAN			Q6ZMG6_HUMAN,Q68D44_HUMAN,I3L4V4_HUMAN		6	906	-			UPI000000D834	273					SNV	SLC13A5,missense_variant,p.Gln273Pro,ENST00000433363,NM_177550.3;SLC13A5,missense_variant,p.Gln256Pro,ENST00000293800,NM_001284509.1;SLC13A5,missense_variant,p.Gln230Pro,ENST00000381074,NM_001284510.1;SLC13A5,missense_variant,p.Gln273Pro,ENST00000573648,NM_001143838.1;SLC13A5,downstream_gene_variant,,ENST00000576323,;SLC13A5,downstream_gene_variant,,ENST00000572352,;SLC13A5,3_prime_UTR_variant,,ENST00000572094,;SLC13A5,non_coding_transcript_exon_variant,,ENST00000574824,;SLC13A5,downstream_gene_variant,,ENST00000575230,;	uc002gdj.2	c.818A>C	1052/3435	3	3			c.818A>C						17	SNP	c.(817-819)CAG>CCG	50	50				0	Broad	solute carrier family 13, member 5 isoform a			6604344		0.473	ENSG00000141485	14171	g.chr17:6604344T>G		integral to membrane	citrate transmembrane transporter activity							1.145586	KEEP	5	2	-1	22	18	5	2	-1	6.454411	22	18	0.128205	1	0	0	0	0	1	0	0	0	--	--		0	G			SLC13A5_uc010vtf.1_Missense_Mutation_p.Q273P|SLC13A5_uc010clq.2_Missense_Mutation_p.Q230P|SLC13A5_uc002gdk.2_Missense_Mutation_p.Q256P|SLC13A5_uc002gdl.1_Missense_Mutation_p.Q255P	10	GBM-06-0122-TP	p.Q273P	T	GTAAACAAACTGGAGCCACAG	NM_177550	NP_808218	6604344	Q86YT5	S13A5_HUMAN	0			6	906	-	G	G			Missense_Mutation	273						
SLC13A5	284111	broad.mit.edu	GRCh37	17	6604344	6604344	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs77405963		TCGA-06-2567-01	TCGA-06-2567-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000433363.2:c.818A>C	p.Gln273Pro	p.Q273P	ENST00000433363	NM_177550.3	273	cAg/cCg	0			1			G	Q/P	uc002gdj.2	protein_coding	YES	CCDS11079.1			818/1707										0	c.(817-819)CAG>CCG			Pfam_domain:PF00939,hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF64,Transmembrane_helices:TMhelix	solute carrier family 13, member 5 isoform a				ENSP00000406220		12-Jun									rs77405963,COSM3748023	12-Jun	.		ENST00000433363	Transcript	1			integral to membrane	citrate transmembrane transporter activity	ENSG00000141485	g.chr17:6604344T>G	23089			MODERATE		3.385	medium	getma.org/?cm=msa&ty=f&p=S13A5_HUMAN&rb=8&re=554&var=Q273P	NA	getma.org/?cm=var&var=hg19,17,6604344,T,G&fts=all	Q273P	--	--	1																																		SLC13A5_uc010vtf.1_Missense_Mutation_p.Q273P|SLC13A5_uc010clq.2_Missense_Mutation_p.Q230P|SLC13A5_uc002gdk.2_Missense_Mutation_p.Q256P|SLC13A5_uc002gdl.1_Missense_Mutation_p.Q255P	0,1	1		benign(0.044)	p.Q273P	NM_177550	NP_808218		deleterious(0)	0,1	S13A5_HUMAN	SLC13A5	HGNC	Q86YT5	S13A5_HUMAN			Q6ZMG6_HUMAN,Q68D44_HUMAN,I3L4V4_HUMAN		6	906	-			UPI000000D834	273					SNV	SLC13A5,missense_variant,p.Gln273Pro,ENST00000433363,NM_177550.3;SLC13A5,missense_variant,p.Gln256Pro,ENST00000293800,NM_001284509.1;SLC13A5,missense_variant,p.Gln230Pro,ENST00000381074,NM_001284510.1;SLC13A5,missense_variant,p.Gln273Pro,ENST00000573648,NM_001143838.1;SLC13A5,downstream_gene_variant,,ENST00000576323,;SLC13A5,downstream_gene_variant,,ENST00000572352,;SLC13A5,3_prime_UTR_variant,,ENST00000572094,;SLC13A5,non_coding_transcript_exon_variant,,ENST00000574824,;SLC13A5,downstream_gene_variant,,ENST00000575230,;	uc002gdj.2	c.818A>C	1052/3435	3	3			c.818A>C						17	SNP	c.(817-819)CAG>CCG	50	50				0	Broad	solute carrier family 13, member 5 isoform a			6604344		0.473	ENSG00000141485	14171	g.chr17:6604344T>G		integral to membrane	citrate transmembrane transporter activity							0.156182	KEEP	7	5	-1	23	25	7	5	-1	7.146279	23	25	0.108696	1	0	0	0	0	1	0	0	0	--	--		0	G			SLC13A5_uc010vtf.1_Missense_Mutation_p.Q273P|SLC13A5_uc010clq.2_Missense_Mutation_p.Q230P|SLC13A5_uc002gdk.2_Missense_Mutation_p.Q256P|SLC13A5_uc002gdl.1_Missense_Mutation_p.Q255P	89	GBM-06-2567-TP	p.Q273P	T	GTAAACAAACTGGAGCCACAG	NM_177550	NP_808218	6604344	Q86YT5	S13A5_HUMAN	0			6	906	-	G	G			Missense_Mutation	273						
SLC14A1	0	broad.mit.edu	GRCh37	18	43310353	43310353	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2638-01	TCGA-32-2638-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321925.4:c.68C>T	p.Ser23Leu	p.S23L	ENST00000321925	NM_001128588.3	23	tCg/tTg	0			1			T	S/L	uc010xcn.1	protein_coding		CCDS11925.1			68/1170									central_nervous_system(1)|pancreas(1)	2	c.(67-69)TCG>TTG			hmmpanther:PTHR10464	solute carrier family 14 (urea transporter),				ENSP00000318546		10-Mar									COSM988428,COSM1589429	10-Mar	.		ENST00000321925	Transcript	1			integral to plasma membrane	urea transmembrane transporter activity	ENSG00000141469	g.chr18:43310353C>T	10918			MODERATE		0.95	low	getma.org/?cm=msa&ty=f&p=UT1_HUMAN&rb=1&re=56&var=S23L	NA	getma.org/?cm=var&var=hg19,18,43310353,C,T&fts=all	S23L	--	--	1																																		SLC14A1_uc010dnk.2_Missense_Mutation_p.S79L|SLC14A1_uc002lbf.3_Missense_Mutation_p.S23L|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Intron|SLC14A1_uc002lbh.3_Intron|SLC14A1_uc002lbi.3_Intron|SLC14A1_uc002lbj.3_Missense_Mutation_p.S79L|SLC14A1_uc002lbk.3_Missense_Mutation_p.S23L	1,1			benign(0.002)	p.S23L	NM_001146036	NP_001139508		tolerated(0.08)	1,1	UT1_HUMAN	SLC14A1	HGNC	Q13336	UT1_HUMAN			G0W2N5_HUMAN,Q96KQ5_HUMAN,Q8WXW8_HUMAN,Q71UV7_HUMAN,M0QYS8_HUMAN,M0QX00_HUMAN,K7ESL3_HUMAN,K7EL30_HUMAN,K7EKN6_HUMAN,K7EJ54_HUMAN,J7FHA1_HUMAN,G3K397_HUMAN,F5GWS2_HUMAN,B4DFJ8_HUMAN		4	387	+			UPI0000137E5D	23					SNV	SLC14A1,missense_variant,p.Ser23Leu,ENST00000321925,NM_001128588.3,NM_001146036.2,NM_015865.6;SLC14A1,missense_variant,p.Ser23Leu,ENST00000586142,;SLC14A1,missense_variant,p.Ser79Leu,ENST00000436407,NM_001146037.1;SLC14A1,missense_variant,p.Ser79Leu,ENST00000415427,;SLC14A1,missense_variant,p.Ser23Leu,ENST00000589700,;SLC14A1,missense_variant,p.Ser79Leu,ENST00000589891,;SLC14A1,missense_variant,p.Ser23Leu,ENST00000586951,;SLC14A1,missense_variant,p.Ser23Leu,ENST00000586056,;SLC14A1,intron_variant,,ENST00000502059,;SLC14A1,intron_variant,,ENST00000402943,;SLC14A1,intron_variant,,ENST00000535474,;SLC14A1,intron_variant,,ENST00000589322,;SLC14A1,intron_variant,,ENST00000587601,;SLC14A1,intron_variant,,ENST00000590246,;SLC14A1,upstream_gene_variant,,ENST00000590377,;RP11-116O18.3,intron_variant,,ENST00000589510,;RP11-116O18.3,downstream_gene_variant,,ENST00000586213,;SLC14A1,non_coding_transcript_exon_variant,,ENST00000591943,;SLC14A1,missense_variant,p.Ser79Leu,ENST00000588179,;SLC14A1,upstream_gene_variant,,ENST00000591642,;	uc010xcn.1	c.68C>T	300/3971	1	1			c.68C>T						18	SNP	c.(67-69)TCG>TTG	3	3			central_nervous_system(1)|pancreas(1)	2	Broad	solute carrier family 14 (urea transporter),			43310353		0.507	ENSG00000141469	14172	g.chr18:43310353C>T		integral to plasma membrane	urea transmembrane transporter activity			201			201	95.875122	KEEP	27	10	-1	44	28	27	10	-1	97.98343	44	28	0.346535	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC14A1_uc010dnk.2_Missense_Mutation_p.S79L|SLC14A1_uc002lbf.3_Missense_Mutation_p.S23L|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Intron|SLC14A1_uc002lbh.3_Intron|SLC14A1_uc002lbi.3_Intron|SLC14A1_uc002lbj.3_Missense_Mutation_p.S79L|SLC14A1_uc002lbk.3_Missense_Mutation_p.S23L	242	GBM-32-2638-TP	p.S23L	C	AACCAGGTTTCGCCATGTCAA	NM_001146036	NP_001139508	43310353	Q13336	UT1_HUMAN	0			4	387	+	T	T			Missense_Mutation	23						
SLC14A2	8170	broad.mit.edu	GRCh37	18	43212315	43212315	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0750-01	TCGA-06-0750-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255226.6:c.522G>T	p.Arg174Ser	p.R174S	ENST00000255226	NM_007163.3	174	agG/agT	0			1			T	R/S	uc010dnj.2	protein_coding	YES	CCDS11924.1			522/2763									upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4	c.(520-522)AGG>AGT			Transmembrane_helices:TMhelix,hmmpanther:PTHR10464,hmmpanther:PTHR10464:SF2,Gene3D:1.10.3430.10,Pfam_domain:PF03253	solute carrier family 14 (urea transporter),				ENSP00000255226		20-May									COSM2151968	20-May	.		ENST00000255226	Transcript				apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	ENSG00000132874	g.chr18:43212315G>T	10919			MODERATE		2.485	medium	getma.org/?cm=msa&ty=f&p=UT2_HUMAN&rb=117&re=421&var=R174S	getma.org/pdb.php?prot=UT2_HUMAN&from=117&to=421&var=R174S	getma.org/?cm=var&var=hg19,18,43212315,G,T&fts=all	R174S	--	--	1																																		SLC14A2_uc002lbb.2_Missense_Mutation_p.R174S|SLC14A2_uc002lbe.2_Missense_Mutation_p.R174S	1	1		possibly_damaging(0.78)	p.R174S	NM_007163	NP_009094		tolerated(0.13)	1	UT2_HUMAN	SLC14A2	HGNC	Q15849	UT2_HUMAN					6	843	+			UPI000013CE99	174					SNV	SLC14A2,missense_variant,p.Arg174Ser,ENST00000255226,NM_007163.3;SLC14A2,missense_variant,p.Arg174Ser,ENST00000586448,NM_001242692.1;SLC14A2,missense_variant,p.Arg174Ser,ENST00000323329,;	uc010dnj.2	c.522G>T	1338/4167	1	1			c.522G>T						18	SNP	c.(520-522)AGG>AGT	12	12			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4	Broad	solute carrier family 14 (urea transporter),			43212315		0.408	ENSG00000132874	14173	g.chr18:43212315G>T		apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity							188.652477	KEEP	53	20	0.726027397	68	49	53	20	0.726027397	190.586163	68	49	0.385965	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC14A2_uc002lbb.2_Missense_Mutation_p.R174S|SLC14A2_uc002lbe.2_Missense_Mutation_p.R174S	70	GBM-06-0750-TP	p.R174S	G	TCACCGCCAGGTCTGCCATTG	NM_007163	NP_009094	43212315	Q15849	UT2_HUMAN	0			6	843	+	T	T			Missense_Mutation	174						
SLC14A2	0	broad.mit.edu	GRCh37	18	43205722	43205722	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-2571-01	TCGA-41-2571-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255226.6:c.225C>T	p.Asp75=	p.D75=	ENST00000255226	NM_007163.3	75	gaC/gaT	0			1			T	D	uc010dnj.2	protein_coding	YES	CCDS11924.1			225/2763									upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4	c.(223-225)GAC>GAT			hmmpanther:PTHR10464,hmmpanther:PTHR10464:SF2	solute carrier family 14 (urea transporter),				ENSP00000255226		20-Mar	2.47E-05		8.80E-05			1.52E-05		6.30E-05	rs752273819,COSM3403539	20-Mar	.		ENST00000255226	Transcript				apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	ENSG00000132874	g.chr18:43205722C>T	10919			LOW								--	--	1																																		SLC14A2_uc002lbb.2_Silent_p.D75D|SLC14A2_uc002lbe.2_Silent_p.D75D	0,1	1			p.D75D	NM_007163	NP_009094			0,1	UT2_HUMAN	SLC14A2	HGNC	Q15849	UT2_HUMAN					4	546	+			UPI000013CE99	75					SNV	SLC14A2,synonymous_variant,p.=,ENST00000255226,NM_007163.3;SLC14A2,synonymous_variant,p.=,ENST00000586448,NM_001242692.1;SLC14A2,synonymous_variant,p.=,ENST00000323329,;	uc010dnj.2	c.225C>T	1041/4167	2	2			c.225C>T						18	SNP	c.(223-225)GAC>GAT	28	28			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4	Broad	solute carrier family 14 (urea transporter),			43205722		0.517	ENSG00000132874	14173	g.chr18:43205722C>T		apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity							42.180119	KEEP	8	8	-1	27	10	8	8	-1	43.620742	27	10	0.32	1	0	0	0	0	0	0	1	0	--	--		0	T			SLC14A2_uc002lbb.2_Silent_p.D75D|SLC14A2_uc002lbe.2_Silent_p.D75D	250	GBM-41-2571-TP	p.D75D	C	AAAGGAAAGACGACGGGGTGG	NM_007163	NP_009094	43205722	Q15849	UT2_HUMAN	0			4	546	+	T	T			Silent	75						
SLC14A2	0	broad.mit.edu	GRCh37	18	43262345	43262345	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01	TCGA-41-5651-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255226.6:c.2624C>T	p.Thr875Met	p.T875M	ENST00000255226	NM_007163.3	875	aCg/aTg	0			1			T	T/M	uc010dnj.2	protein_coding	YES	CCDS11924.1			2624/2763									upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4	c.(2623-2625)ACG>ATG			Transmembrane_helices:TMhelix,hmmpanther:PTHR10464,hmmpanther:PTHR10464:SF2,Gene3D:1.10.3430.10,Pfam_domain:PF03253	solute carrier family 14 (urea transporter),				ENSP00000255226		20/20	8.24E-06			0.000116					rs777670329,COSM3403540	20/20	.		ENST00000255226	Transcript				apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	ENSG00000132874	g.chr18:43262345C>T	10919			MODERATE		3.33	medium	getma.org/?cm=msa&ty=f&p=UT2_HUMAN&rb=579&re=883&var=T875M	getma.org/pdb.php?prot=UT2_HUMAN&from=579&to=883&var=T875M	getma.org/?cm=var&var=hg19,18,43262345,C,T&fts=all	T875M	--	--	1																																		SLC14A2_uc002lbe.2_Missense_Mutation_p.T875M	0,1	1		probably_damaging(0.976)	p.T875M	NM_007163	NP_009094		deleterious(0)	0,1	UT2_HUMAN	SLC14A2	HGNC	Q15849	UT2_HUMAN					21	2945	+			UPI000013CE99	875					SNV	SLC14A2,missense_variant,p.Thr875Met,ENST00000255226,NM_007163.3;SLC14A2,missense_variant,p.Thr875Met,ENST00000586448,NM_001242692.1;SLC14A2,missense_variant,p.Thr352Met,ENST00000589658,;RP11-116O18.3,intron_variant,,ENST00000589510,;	uc010dnj.2	c.2624C>T	3440/4167	1	1			c.2624C>T						18	SNP	c.(2623-2625)ACG>ATG	7	7			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4	Broad	solute carrier family 14 (urea transporter),			43262345		0.547	ENSG00000132874	14173	g.chr18:43262345C>T		apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity							-41.013715	KEEP	3	3	-1	84	141	3	3	-1	10.064367	84	141	0.028708	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC14A2_uc002lbe.2_Missense_Mutation_p.T875M	258	GBM-41-5651-TP	p.T875M	C	CTGCTCCTGACGACCAATAAC	NM_007163	NP_009094	43262345	Q15849	UT2_HUMAN	0			21	2945	+	T	T			Missense_Mutation	875						
SLC15A1	6564		GRCh37	13	99337143	99337143	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000376503.5:c.1962G>A	p.Ala654=	p.A654=	ENST00000376503	NM_005073.3	654	gcG/gcA	0																																																																																																																																																																																																																																												
SLC15A2	0	broad.mit.edu	GRCh37	3	121641692	121641692	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01	TCGA-76-6193-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000489711.1:c.851C>T	p.Ala284Val	p.A284V	ENST00000489711	NM_021082.3	284	gCg/gTg	0			1			T	A/V	uc003eep.2	protein_coding	YES	CCDS3007.1			851/2190									skin(1)	1	c.(850-852)GCG>GTG			hmmpanther:PTHR11654:SF15,hmmpanther:PTHR11654,Pfam_domain:PF00854,TIGRFAM_domain:TIGR00926	peptide transporter 2 isoform a	Cefadroxil(DB01140)			ENSP00000417085		22-Sep									COSM3408170	22-Sep	.		ENST00000489711	Transcript			protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	ENSG00000163406	g.chr3:121641692C>T	10921			MODERATE		3.175	medium	getma.org/?cm=msa&ty=f&p=S15A2_HUMAN&rb=111&re=494&var=A284V	getma.org/pdb.php?prot=S15A2_HUMAN&from=111&to=494&var=A284V	getma.org/?cm=var&var=hg19,3,121641692,C,T&fts=all	A284V	--	--	1																																		SLC15A2_uc011bjn.1_Missense_Mutation_p.A253V	1	1		probably_damaging(0.982)	p.A284V	NM_021082	NP_066568		deleterious(0.01)	1	S15A2_HUMAN	SLC15A2	HGNC	Q16348	S15A2_HUMAN		GBM - Glioblastoma multiforme(114;0.0967)	C9IZ38_HUMAN		9	1004	+			UPI000013E27D	284					SNV	SLC15A2,missense_variant,p.Ala284Val,ENST00000489711,NM_021082.3;SLC15A2,missense_variant,p.Ala253Val,ENST00000295605,NM_001145998.1;AC072031.1,upstream_gene_variant,,ENST00000581491,;SLC15A2,non_coding_transcript_exon_variant,,ENST00000489886,;SLC15A2,upstream_gene_variant,,ENST00000489957,;	uc003eep.2	c.851C>T	1239/5673	1	1			c.851C>T						3	SNP	c.(850-852)GCG>GTG	1	1			skin(1)	1	Broad	peptide transporter 2 isoform a		Cefadroxil(DB01140)	121641692		0.433	ENSG00000163406	14175	g.chr3:121641692C>T	protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding							15.405538	KEEP	7	1	-1	21	11	7	1	-1	18.539886	21	11	0.194444	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC15A2_uc011bjn.1_Missense_Mutation_p.A253V	276	GBM-76-6193-TP	p.A284V	C	CTAGACTGGGCGGCTGAGAAA	NM_021082	NP_066568	121641692	Q16348	S15A2_HUMAN	0		GBM - Glioblastoma multiforme(114;0.0967)	9	1004	+	T	T			Missense_Mutation	284						
SLC16A10	0	broad.mit.edu	GRCh37	6	111498841	111498841	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-27-1835-01	TCGA-27-1835-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368851.5:c.915T>C	p.Phe305=	p.F305=	ENST00000368851	NM_018593.4	305	ttT/ttC	0			1			C	F	uc003pus.2	protein_coding	YES	CCDS5089.1			915/1548										0	c.(913-915)TTT>TTC			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11360:SF119,hmmpanther:PTHR11360,Gene3D:1.20.1250.20,Pfam_domain:PF07690,Superfamily_domains:SSF103473	solute carrier family 16, member 10				ENSP00000357844		6-Mar									COSM2157221	6-Mar	.		ENST00000368851	Transcript			aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity	ENSG00000112394	g.chr6:111498841T>C	17027			LOW								--	--	1																																		SLC16A10_uc003pur.3_Silent_p.F305F|SLC16A10_uc003put.2_5'UTR	1	1			p.F305F	NM_018593	NP_061063			1	MOT10_HUMAN	SLC16A10	HGNC	Q8TF71	MOT10_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	Q9P1I2_HUMAN		3	1090	+		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)	UPI00000497DB	305			Helical; (Potential).		SNV	SLC16A10,synonymous_variant,p.=,ENST00000368851,NM_018593.4;SLC16A10,synonymous_variant,p.=,ENST00000419619,;SLC16A10,synonymous_variant,p.=,ENST00000439288,;SLC16A10,5_prime_UTR_variant,,ENST00000368850,;SLC16A10,non_coding_transcript_exon_variant,,ENST00000465319,;	uc003pus.2	c.915T>C	1090/2508	3	3			c.915T>C						6	SNP	c.(913-915)TTT>TTC	15	15				0	Broad	solute carrier family 16, member 10			111498841		0.363	ENSG00000112394	14179	g.chr6:111498841T>C	aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity							369.704361	KEEP	62	75	-1	86	76	62	75	-1	369.930717	86	76	0.46748	1	0	0	0	0	0	0	1	0	--	--		0	C			SLC16A10_uc003pur.3_Silent_p.F305F|SLC16A10_uc003put.2_5'UTR	194	GBM-27-1835-TP	p.F305F	T	TTGCACTTTTTGGATACTTTG	NM_018593	NP_061063	111498841	Q8TF71	MOT10_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	3	1090	+	C	C		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)	Silent	305			Helical; (Potential).			
SLC16A13	201232	broad.mit.edu	GRCh37	17	6941650	6941650	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs139041380		TCGA-06-0195-01	TCGA-06-0195-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308027.6:c.523G>A	p.Val175Met	p.V175M	ENST00000308027	NM_201566.2	175	Gtg/Atg	0			1			A	V/M	uc002geh.2	protein_coding	YES	CCDS11085.1			523/1281									ovary(1)|skin(1)	2	c.(523-525)GTG>ATG			Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF19,Low_complexity_(Seg):seg,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix	monocarboxylate transporter 13				ENSP00000309751		4-Mar									COSM3403166	4-Mar	.		ENST00000308027	Transcript				integral to membrane|plasma membrane	symporter activity	ENSG00000174327	g.chr17:6941650G>A	31037			MODERATE		0.755	neutral	getma.org/?cm=msa&ty=f&p=MOT13_HUMAN&rb=14&re=303&var=V175M	NA	getma.org/?cm=var&var=hg19,17,6941650,G,A&fts=all	V175M	--	--	1																																			1	1		benign(0.307)	p.V175M	NM_201566	NP_963860		tolerated(0.05)	1	MOT13_HUMAN	SLC16A13	HGNC	Q7RTY0	MOT13_HUMAN					3	831	+			UPI000015FA66	175			Helical; (Potential).		SNV	SLC16A13,missense_variant,p.Val175Met,ENST00000308027,NM_201566.2;SLC16A11,downstream_gene_variant,,ENST00000308009,NM_153357.1;SLC16A11,downstream_gene_variant,,ENST00000447225,;SLC16A11,downstream_gene_variant,,ENST00000574600,;SLC16A13,downstream_gene_variant,,ENST00000575844,;SLC16A11,downstream_gene_variant,,ENST00000573338,;	uc002geh.2	c.523G>A	831/1748	2	2			c.523G>A						17	SNP	c.(523-525)GTG>ATG	25	25			ovary(1)|skin(1)	2	Broad	monocarboxylate transporter 13			6941650		0.667	ENSG00000174327	14182	g.chr17:6941650G>A		integral to membrane|plasma membrane	symporter activity							119.926247	KEEP	27	22	-1	51	38	27	22	-1	121.272177	51	38	0.381818	1	0	0	0	0	1	0	0	0	--	--		0	A				45	GBM-06-0195-TP	p.V175M	G	CCTGCTGCTGGTGTCTGCCCT	NM_201566	NP_963860	6941650	Q7RTY0	MOT13_HUMAN	0			3	831	+	A	A			Missense_Mutation	175			Helical; (Potential).			
SLC16A3	9123		GRCh37	17	80195743	80195743	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000581287.1:c.1097C>T	p.Ala366Val	p.A366V	ENST00000581287	NM_001206952.1	366	gCc/gTc	0																																																																																																																																																																																																																																												
SLC16A6	9120	broad.mit.edu	GRCh37	17	66267054	66267054	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0875-01	TCGA-06-0875-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327268.4:c.1247A>C	p.Glu416Ala	p.E416A	ENST00000327268	NM_001174166.1	416	gAg/gCg	0			1			G	E/A	uc002jgz.1	protein_coding	YES	CCDS11675.1			1247/1572										0	c.(1246-1248)GAG>GCG			Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF20,Superfamily_domains:SSF103473	solute carrier family 16, member 6	Pyruvic acid(DB00119)			ENSP00000319991		7-Jun									COSM2151990	7-Jun	.		ENST00000327268	Transcript				integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	ENSG00000108932	g.chr17:66267054T>G	10927			MODERATE		1.32	low	getma.org/?cm=msa&ty=f&p=MOT7_HUMAN&rb=31&re=437&var=E416A	NA	getma.org/?cm=var&var=hg19,17,66267054,T,G&fts=all	E416A	--	--	1																																		ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Missense_Mutation_p.E416A	1	1		benign(0.093)	p.E416A	NM_004694	NP_004685		tolerated(0.11)	1	MOT7_HUMAN	SLC16A6	HGNC	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		J3KS02_HUMAN,A1L174_HUMAN		5	1435	-	all_cancers(12;1.24e-09)		UPI00001AA3B9	416			Cytoplasmic (Potential).		SNV	SLC16A6,missense_variant,p.Glu416Ala,ENST00000327268,NM_001174166.1;SLC16A6,missense_variant,p.Glu416Ala,ENST00000580666,NM_004694.4;ARSG,intron_variant,,ENST00000448504,NM_014960.4;SLC16A6,downstream_gene_variant,,ENST00000582867,;SLC16A6,downstream_gene_variant,,ENST00000583477,;ARSG,intron_variant,,ENST00000578726,;	uc002jgz.1	c.1247A>C	1412/3807	3	3			c.1247A>C						17	SNP	c.(1246-1248)GAG>GCG	15	15				0	Broad	solute carrier family 16, member 6		Pyruvic acid(DB00119)	66267054		0.458	ENSG00000108932	14188	g.chr17:66267054T>G		integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity							133.733446	KEEP	20	28	-1	50	40	20	28	-1	136.335884	50	40	0.348837	1	0	0	0	0	1	0	0	0	--	--		0	G			ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Missense_Mutation_p.E416A	71	GBM-06-0875-TP	p.E416A	T	AGACATCTTCTCAATGCCCAC	NM_004694	NP_004685	66267054	O15403	MOT7_HUMAN	0	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		5	1435	-	G	G	all_cancers(12;1.24e-09)		Missense_Mutation	416			Cytoplasmic (Potential).			
SLC17A1	0	broad.mit.edu	GRCh37	6	25819769	25819769	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-12-1597-01	TCGA-12-1597-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000244527.4:c.499C>T	p.Arg167Ter	p.R167*	ENST00000244527	NM_005074.3	167	Cga/Tga	0			1			A	R/*	uc003nfh.3	protein_coding	YES	CCDS4565.1			499/1404									ovary(3)|pancreas(1)	4	c.(499-501)CGA>TGA			PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF26,Pfam_domain:PF07690,TIGRFAM_domain:TIGR00894,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	solute carrier family 17 (sodium phosphate),				ENSP00000244527		13-May	7.41E-05	9.79E-05				0.000105		6.06E-05	rs754113746,COSM3410841	13-May	.		ENST00000244527	Transcript			sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	ENSG00000124568	g.chr6:25819769G>A	10929			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,6,25819769,G,A&fts=all	R167*	--	--	1																																		SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Nonsense_Mutation_p.R165*|SLC17A1_uc010jqc.1_Nonsense_Mutation_p.R165*	0,1	1			p.R167*	NM_005074	NP_005065			0,1	NPT1_HUMAN	SLC17A1	HGNC	Q14916	NPT1_HUMAN			Q96PF5_HUMAN,Q96KL5_HUMAN		5	615	-			UPI00000719C0	167					SNV	SLC17A1,stop_gained,p.Arg167Ter,ENST00000244527,NM_005074.3;SLC17A1,stop_gained,p.Arg167Ter,ENST00000476801,;SLC17A1,stop_gained,p.Arg167Ter,ENST00000427328,;SLC17A1,stop_gained,p.Arg167Ter,ENST00000468082,;SLC17A1,stop_gained,p.Arg167Ter,ENST00000377886,;	uc003nfh.3	c.499C>T	615/1844	5	2			c.499C>T						6	SNP	c.(499-501)CGA>TGA	26	26			ovary(3)|pancreas(1)	4	Broad	solute carrier family 17 (sodium phosphate),			25819769		0.398	ENSG00000124568	14192	g.chr6:25819769G>A	sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity							104.013674	KEEP	29	13	-1	54	47	29	13	-1	108.237209	54	47	0.303279	1	0	0	0	0	0	1	0	0	--	--		0	A			SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Nonsense_Mutation_p.R165*|SLC17A1_uc010jqc.1_Nonsense_Mutation_p.R165*	124	GBM-12-1597-TP	p.R167*	G	AGTCGGCCTCGTTCCAGGGGA	NM_005074	NP_005065	25819769	Q14916	NPT1_HUMAN	0			5	615	-	A	A			Nonsense_Mutation	167						
SLC17A2	0	broad.mit.edu	GRCh37	6	25917030	25917030	+	synonymous_variant	Silent	SNP	T	T	A			TCGA-12-5299-01	TCGA-12-5299-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265425.3:c.813A>T	p.Thr271=	p.T271=	ENST00000265425		271	acA/acT	0			1			A	T	uc011dkb.1	protein_coding					813/1320									ovary(1)	1	c.(811-813)ACA>ACT			Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF193,Superfamily_domains:SSF103473	SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2;				ENSP00000265425		11-Jul									COSM3410842,COSM3410843	11-Jul	.		ENST00000265425	Transcript			phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	ENSG00000112337	g.chr6:25917030T>A	10930			LOW								--	--	1																																		SLC17A2_uc011dkc.1_Silent_p.T271T|SLC17A2_uc003nfl.2_Silent_p.T271T	1,1				p.T271T					1,1	NPT3_HUMAN	SLC17A2	HGNC	O00624	NPT3_HUMAN					7	896	-			UPI0000470B4D	271					SNV	SLC17A2,synonymous_variant,p.=,ENST00000377850,NM_001286123.1;SLC17A2,synonymous_variant,p.=,ENST00000360488,NM_005835.2;SLC17A2,synonymous_variant,p.=,ENST00000265425,;	uc011dkb.1	c.813A>T	834/1493	2	2			c.813A>T						6	SNP	c.(811-813)ACA>ACT	24	24			ovary(1)	1	Broad	SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2;			25917030		0.478	ENSG00000112337	14193	g.chr6:25917030T>A	phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity							194.505139	KEEP	33	33	-1	43	50	33	33	-1	195.753113	43	50	0.401361	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC17A2_uc011dkc.1_Silent_p.T271T|SLC17A2_uc003nfl.2_Silent_p.T271T	130	GBM-12-5299-TP	p.T271T	T	GTGGTAGGCATGTGACCATCG			25917030	O00624	NPT3_HUMAN	0			7	896	-	A	A			Silent	271						
SLC17A6	57084	broad.mit.edu	GRCh37	11	22391734	22391734	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0219-01	TCGA-06-0219-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263160.3:c.1041G>C	p.Lys347Asn	p.K347N	ENST00000263160	NM_020346.2	347	aaG/aaC	0			1			C	K/N	uc001mqk.2	protein_coding	YES	CCDS7856.1			1041/1749									ovary(3)|breast(1)	4	c.(1039-1041)AAG>AAC			PROSITE_profiles:PS50850,hmmpanther:PTHR11662:SF201,hmmpanther:PTHR11662,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	solute carrier family 17 (sodium-dependent				ENSP00000263160		12-Aug									COSM2150963	12-Aug	.		ENST00000263160	Transcript			sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	ENSG00000091664	g.chr11:22391734G>C	16703			MODERATE		0.76	neutral	getma.org/?cm=msa&ty=f&p=VGLU2_HUMAN&rb=76&re=461&var=K347N	NA	getma.org/?cm=var&var=hg19,11,22391734,G,C&fts=all	K347N	--	--	1																																			1	1		benign(0.159)	p.K347N	NM_020346	NP_065079		tolerated(0.07)	1	VGLU2_HUMAN	SLC17A6	HGNC	Q9P2U8	VGLU2_HUMAN					8	1454	+			UPI0000073F14	347			Vesicular (Potential).		SNV	SLC17A6,missense_variant,p.Lys347Asn,ENST00000263160,NM_020346.2;	uc001mqk.2	c.1041G>C	1478/3949	3	3			c.1041G>C						11	SNP	c.(1039-1041)AAG>AAC	10	10			ovary(3)|breast(1)	4	Broad	solute carrier family 17 (sodium-dependent			22391734		0.279	ENSG00000091664	14197	g.chr11:22391734G>C	sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity							77.621379	KEEP	21	16	-1	57	42	21	16	-1	83.180646	57	42	0.263636	1	0	0	0	0	1	0	0	0	--	--		0	C				52	GBM-06-0219-TP	p.K347N	G	AAATTAGCAAGGTATGTAAAA	NM_020346	NP_065079	22391734	Q9P2U8	VGLU2_HUMAN	0			8	1454	+	C	C			Missense_Mutation	347			Vesicular (Potential).			
SLC17A6	0	broad.mit.edu	GRCh37	11	22399231	22399231	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-41-2573-01	TCGA-41-2573-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263160.3:c.1694T>C	p.Val565Ala	p.V565A	ENST00000263160	NM_020346.2	565	gTa/gCa	0			1			C	V/A	uc001mqk.2	protein_coding	YES	CCDS7856.1			1694/1749									ovary(3)|breast(1)	4	c.(1693-1695)GTA>GCA				solute carrier family 17 (sodium-dependent				ENSP00000263160		12-Dec									COSM3397619	12-Dec	.		ENST00000263160	Transcript			sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	ENSG00000091664	g.chr11:22399231T>C	16703			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=VGLU2_HUMAN&rb=462&re=582&var=V565A	NA	getma.org/?cm=var&var=hg19,11,22399231,T,C&fts=all	V565A	--	--	1																																			1	1		benign(0.003)	p.V565A	NM_020346	NP_065079		tolerated(0.12)	1	VGLU2_HUMAN	SLC17A6	HGNC	Q9P2U8	VGLU2_HUMAN					12	2107	+			UPI0000073F14	565			Cytoplasmic (Potential).		SNV	SLC17A6,missense_variant,p.Val565Ala,ENST00000263160,NM_020346.2;	uc001mqk.2	c.1694T>C	2131/3949	3	3			c.1694T>C						11	SNP	c.(1693-1695)GTA>GCA	56	56			ovary(3)|breast(1)	4	Broad	solute carrier family 17 (sodium-dependent			22399231		0.353	ENSG00000091664	14197	g.chr11:22399231T>C	sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity							108.406495	KEEP	20	12	-1	9	17	20	12	-1	108.44368	9	17	0.528302	1	0	0	0	0	1	0	0	0	--	--		0	C				252	GBM-41-2573-TP	p.V565A	T	GAGGAATTTGTACAAGGAGAA	NM_020346	NP_065079	22399231	Q9P2U8	VGLU2_HUMAN	0			12	2107	+	C	C			Missense_Mutation	565			Cytoplasmic (Potential).			
SLC17A7	57030	broad.mit.edu	GRCh37	19	49933892	49933892	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs150211751		TCGA-06-0125-01	TCGA-06-0125-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221485.3:c.1567G>A	p.Glu523Lys	p.E523K	ENST00000221485	NM_020309.3	523	Gaa/Aaa	0	T:0		1			T	E/K	uc002pnp.2	protein_coding	YES	CCDS12764.1			1567/1683									ovary(1)|pancreas(1)|skin(1)	3	c.(1567-1569)GAA>AAA			hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF138	solute carrier family 17, member 7			T:0.0001	ENSP00000221485		12-Dec	8.24E-06					1.56E-05			rs150211751,COSM2149341	12-Dec	.		ENST00000221485	Transcript			glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	ENSG00000104888	g.chr19:49933892C>T	16704			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=VGLU1_HUMAN&rb=454&re=560&var=E523K	NA	getma.org/?cm=var&var=hg19,19,49933892,C,T&fts=all	E523K	--	--	1																																		SLC17A7_uc002pno.2_Missense_Mutation_p.E185K	0,1	1		benign(0.017)	p.E523K	NM_020309	NP_064705		tolerated(0.1)	0,1	VGLU1_HUMAN	SLC17A7	HGNC	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	B4DFR9_HUMAN,A8K0Q7_HUMAN		12	1739	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	UPI000006F6B8	523			Cytoplasmic (Potential).		SNV	SLC17A7,missense_variant,p.Glu523Lys,ENST00000221485,NM_020309.3;SLC17A7,missense_variant,p.Glu511Lys,ENST00000543531,;SLC17A7,missense_variant,p.Glu456Lys,ENST00000600601,;GFY,downstream_gene_variant,,ENST00000576655,NM_001195256.1;SLC17A7,downstream_gene_variant,,ENST00000598018,;SLC17A7,downstream_gene_variant,,ENST00000600672,;SLC17A7,downstream_gene_variant,,ENST00000596689,;	uc002pnp.2	c.1567G>A	1739/2973	2	2			c.1567G>A						19	SNP	c.(1567-1569)GAA>AAA	22	22			ovary(1)|pancreas(1)|skin(1)	3	Broad	solute carrier family 17, member 7			49933892		0.662	ENSG00000104888	14198	g.chr19:49933892C>T	glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity							76.327428	KEEP	16	15	-1	38	45	16	15	-1	81.716087	38	45	0.266055	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC17A7_uc002pno.2_Missense_Mutation_p.E185K	12	GBM-06-0125-TP	p.E523K	C	TCCTCCATTTCGCTGTCGTCA	NM_020309	NP_064705	49933892	Q9P2U7	VGLU1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	12	1739	-	T	T		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	Missense_Mutation	523			Cytoplasmic (Potential).			
SLC17A7	0	broad.mit.edu	GRCh37	19	49934369	49934369	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs17855709		TCGA-27-2523-01	TCGA-27-2523-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221485.3:c.1292C>T	p.Pro431Leu	p.P431L	ENST00000221485	NM_020309.3	431	cCg/cTg	0			1			A	P/L	uc002pnp.2	protein_coding	YES	CCDS12764.1			1292/1683									ovary(1)|pancreas(1)|skin(1)	3	c.(1291-1293)CCG>CTG			PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF138,Gene3D:1.20.1250.20,Pfam_domain:PF07690,Superfamily_domains:SSF103473	solute carrier family 17, member 7				ENSP00000221485		12-Nov									COSM3404454	12-Nov	.		ENST00000221485	Transcript			glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	ENSG00000104888	g.chr19:49934369G>A	16704			MODERATE		3.315	medium	getma.org/?cm=msa&ty=f&p=VGLU1_HUMAN&rb=68&re=453&var=P431L	NA	getma.org/?cm=var&var=hg19,19,49934369,G,A&fts=all	P431L	--	--	1																																		SLC17A7_uc002pno.2_Missense_Mutation_p.P93L	1	1		probably_damaging(0.995)	p.P431L	NM_020309	NP_064705		deleterious(0)	1	VGLU1_HUMAN	SLC17A7	HGNC	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	B4DFR9_HUMAN,A8K0Q7_HUMAN		11	1464	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	UPI000006F6B8	431			Cytoplasmic (Potential).		SNV	SLC17A7,missense_variant,p.Pro431Leu,ENST00000221485,NM_020309.3;SLC17A7,missense_variant,p.Pro364Leu,ENST00000600601,;SLC17A7,missense_variant,p.Pro419Leu,ENST00000543531,;GFY,downstream_gene_variant,,ENST00000576655,NM_001195256.1;SLC17A7,non_coding_transcript_exon_variant,,ENST00000600672,;SLC17A7,downstream_gene_variant,,ENST00000598018,;SLC17A7,downstream_gene_variant,,ENST00000596689,;	uc002pnp.2	c.1292C>T	1464/2973	2	2			c.1292C>T						19	SNP	c.(1291-1293)CCG>CTG	41	41			ovary(1)|pancreas(1)|skin(1)	3	Broad	solute carrier family 17, member 7			49934369		0.607	ENSG00000104888	14198	g.chr19:49934369G>A	glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity							126.581304	KEEP	13	24	-1	6	0	13	24	-1	133.436112	6	0	0.921053	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC17A7_uc002pno.2_Missense_Mutation_p.P93L	201	GBM-27-2523-TP	p.P431L	G	GGCGTAGCGCGGGGCTATGTC	NM_020309	NP_064705	49934369	Q9P2U7	VGLU1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	11	1464	-	A	A		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	Missense_Mutation	431			Cytoplasmic (Potential).			
SLC17A7	57030		GRCh37	19	49937876	49937876	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000221485.3:c.620C>T	p.Ala207Val	p.A207V	ENST00000221485	NM_020309.3	207	gCg/gTg	0																																																																																																																																																																																																																																												
SLC17A8	0	broad.mit.edu	GRCh37	12	100811900	100811900	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1829-01	TCGA-14-1829-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323346.5:c.1391G>A	p.Cys464Tyr	p.C464Y	ENST00000323346	NM_001145288.1	464	tGt/tAt	0			1			A	C/Y	uc010svi.1	protein_coding	YES	CCDS9077.1			1391/1770									ovary(3)	3	c.(1390-1392)TGT>TAT			Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF207,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix	solute carrier family 17 (sodium-dependent				ENSP00000316909		12-Nov									COSM3398241	12-Nov	.		ENST00000323346	Transcript	1		neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	ENSG00000179520	g.chr12:100811900G>A	20151			MODERATE		2.97	medium	getma.org/?cm=msa&ty=f&p=VGLU3_HUMAN&rb=81&re=465&var=C464Y	NA	getma.org/?cm=var&var=hg19,12,100811900,G,A&fts=all	C464Y	--	--	1																																		SLC17A8_uc009ztx.2_Missense_Mutation_p.C414Y	1	1		probably_damaging(1)	p.C464Y	NM_139319	NP_647480		deleterious(0)	1	VGLU3_HUMAN	SLC17A8	HGNC	Q8NDX2	VGLU3_HUMAN					11	1704	+			UPI0000073B9B	464			Helical; (Potential).		SNV	SLC17A8,missense_variant,p.Cys464Tyr,ENST00000323346,NM_001145288.1,NM_139319.2;SLC17A8,missense_variant,p.Cys414Tyr,ENST00000392989,;SLC17A8,non_coding_transcript_exon_variant,,ENST00000552697,;	uc010svi.1	c.1391G>A	1704/3983	2	2			c.1391G>A						12	SNP	c.(1390-1392)TGT>TAT	25	25			ovary(3)	3	Broad	solute carrier family 17 (sodium-dependent			100811900		0.498	ENSG00000179520	14199	g.chr12:100811900G>A	neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity							175.941602	KEEP	44	23	-1	61	67	44	23	-1	179.036752	61	67	0.359551	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC17A8_uc009ztx.2_Missense_Mutation_p.C414Y	149	GBM-14-1829-TP	p.C464Y	G	GGAATGGTCTGTCCCCTCATT	NM_139319	NP_647480	100811900	Q8NDX2	VGLU3_HUMAN	0			11	1704	+	A	A			Missense_Mutation	464			Helical; (Potential).			
SLC17A8	0	broad.mit.edu	GRCh37	12	100787226	100787226	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323346.5:c.553G>A	p.Val185Ile	p.V185I	ENST00000323346	NM_001145288.1	185	Gtc/Atc	0			1			A	V/I	uc010svi.1	protein_coding	YES	CCDS9077.1			553/1770									ovary(3)	3	c.(553-555)GTC>ATC			Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF207,Superfamily_domains:SSF103473	solute carrier family 17 (sodium-dependent				ENSP00000316909		12-Apr									COSM3398240	12-Apr	.		ENST00000323346	Transcript	1		neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	ENSG00000179520	g.chr12:100787226G>A	20151			MODERATE		2.11	medium	getma.org/?cm=msa&ty=f&p=VGLU3_HUMAN&rb=81&re=465&var=V185I	NA	getma.org/?cm=var&var=hg19,12,100787226,G,A&fts=all	V185I	--	--	1																																		SLC17A8_uc009ztx.2_Missense_Mutation_p.V185I	1	1		probably_damaging(0.998)	p.V185I	NM_139319	NP_647480		deleterious(0.03)	1	VGLU3_HUMAN	SLC17A8	HGNC	Q8NDX2	VGLU3_HUMAN					4	866	+			UPI0000073B9B	185			Helical; (Potential).		SNV	SLC17A8,missense_variant,p.Val185Ile,ENST00000323346,NM_001145288.1,NM_139319.2;SLC17A8,missense_variant,p.Val185Ile,ENST00000392989,;	uc010svi.1	c.553G>A	866/3983	1	1			c.553G>A						12	SNP	c.(553-555)GTC>ATC	53	53			ovary(3)	3	Broad	solute carrier family 17 (sodium-dependent			100787226		0.448	ENSG00000179520	14199	g.chr12:100787226G>A	neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity							110.767609	KEEP	15	25	-1	29	21	15	25	-1	110.793176	29	21	0.480519	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC17A8_uc009ztx.2_Missense_Mutation_p.V185I	230	GBM-32-1979-TP	p.V185I	G	TTACGGATGCGTCATGTGTGT	NM_139319	NP_647480	100787226	Q8NDX2	VGLU3_HUMAN	0			4	866	+	A	A			Missense_Mutation	185			Helical; (Potential).			
SLC17A9	63910	broad.mit.edu	GRCh37	20	61596986	61596986	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0237-01	TCGA-06-0237-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370351.4:c.970G>A	p.Val324Ile	p.V324I	ENST00000370351	NM_022082.3	324	Gtc/Atc	0			1			A	V/I	uc002yea.3	protein_coding	YES	CCDS42901.1			970/1311								p.V324I(1)	ovary(1)|skin(1)	2	c.(970-972)GTC>ATC			Transmembrane_helices:TMhelix,Superfamily_domains:SSF103473,Pfam_domain:PF07690,Gene3D:1.20.1250.20,hmmpanther:PTHR11662:SF183,hmmpanther:PTHR11662,PROSITE_profiles:PS50850	vesicular nucleotide transporter SLC17A9				ENSP00000359376		13-Oct	8.26E-06					1.50E-05			rs772910639,COSM72664	13-Oct	.		ENST00000370351	Transcript	1		exocytosis|transmembrane transport	integral to membrane	transporter activity	ENSG00000101194	g.chr20:61596986G>A	16192			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=S17A9_HUMAN&rb=30&re=387&var=V324I	NA	getma.org/?cm=var&var=hg19,20,61596986,G,A&fts=all	V324I	--	--	1																																		SLC17A9_uc002ydz.3_Missense_Mutation_p.V318I|SLC17A9_uc011aap.1_Missense_Mutation_p.V344I	0,1	1		benign(0.016)	p.V324I	NM_022082	NP_071365		tolerated(0.53)	0,1	S17A9_HUMAN	SLC17A9	HGNC	Q9BYT1	S17A9_HUMAN					10	1154	+			UPI000014051D	324			Helical; (Potential).		SNV	SLC17A9,missense_variant,p.Val318Ile,ENST00000370349,;SLC17A9,missense_variant,p.Val324Ile,ENST00000370351,NM_022082.3;SLC17A9,non_coding_transcript_exon_variant,,ENST00000488738,;SLC17A9,non_coding_transcript_exon_variant,,ENST00000459704,;SLC17A9,non_coding_transcript_exon_variant,,ENST00000483113,;SLC17A9,downstream_gene_variant,,ENST00000487303,;	uc002yea.3	c.970G>A	1101/2539	2	2			c.970G>A						20	SNP	c.(970-972)GTC>ATC	30	30		p.V324I(1)	ovary(1)|skin(1)	2	Broad	vesicular nucleotide transporter SLC17A9			61596986		0.652	ENSG00000101194	14200	g.chr20:61596986G>A	exocytosis|transmembrane transport	integral to membrane	transporter activity							663.264556	KEEP	154	117	-1	219	191	154	117	-1	668.756913	219	191	0.395105	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC17A9_uc002ydz.3_Missense_Mutation_p.V318I|SLC17A9_uc011aap.1_Missense_Mutation_p.V344I	54	GBM-06-0237-TP	p.V324I	G	CCTCTCCAGCGTCTTTGCTCT	NM_022082	NP_071365	61596986	Q9BYT1	S17A9_HUMAN	0			10	1154	+	A	A			Missense_Mutation	324			Helical; (Potential).			
SLC17A9	63910	broad.mit.edu	GRCh37	20	61596986	61596986	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0745-01	TCGA-06-0745-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370351.4:c.970G>A	p.Val324Ile	p.V324I	ENST00000370351	NM_022082.3	324	Gtc/Atc	0			1			A	V/I	uc002yea.3	protein_coding	YES	CCDS42901.1			970/1311								p.V324I(1)	ovary(1)|skin(1)	2	c.(970-972)GTC>ATC			Transmembrane_helices:TMhelix,Superfamily_domains:SSF103473,Pfam_domain:PF07690,Gene3D:1.20.1250.20,hmmpanther:PTHR11662:SF183,hmmpanther:PTHR11662,PROSITE_profiles:PS50850	vesicular nucleotide transporter SLC17A9				ENSP00000359376		13-Oct	8.26E-06					1.50E-05			rs772910639,COSM72664	13-Oct	.		ENST00000370351	Transcript	1		exocytosis|transmembrane transport	integral to membrane	transporter activity	ENSG00000101194	g.chr20:61596986G>A	16192			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=S17A9_HUMAN&rb=30&re=387&var=V324I	NA	getma.org/?cm=var&var=hg19,20,61596986,G,A&fts=all	V324I	--	--	1																																		SLC17A9_uc002ydz.3_Missense_Mutation_p.V318I|SLC17A9_uc011aap.1_Missense_Mutation_p.V344I	0,1	1		benign(0.016)	p.V324I	NM_022082	NP_071365		tolerated(0.53)	0,1	S17A9_HUMAN	SLC17A9	HGNC	Q9BYT1	S17A9_HUMAN					10	1154	+			UPI000014051D	324			Helical; (Potential).		SNV	SLC17A9,missense_variant,p.Val318Ile,ENST00000370349,;SLC17A9,missense_variant,p.Val324Ile,ENST00000370351,NM_022082.3;SLC17A9,non_coding_transcript_exon_variant,,ENST00000488738,;SLC17A9,non_coding_transcript_exon_variant,,ENST00000459704,;SLC17A9,non_coding_transcript_exon_variant,,ENST00000483113,;SLC17A9,downstream_gene_variant,,ENST00000487303,;	uc002yea.3	c.970G>A	1101/2539	2	2			c.970G>A						20	SNP	c.(970-972)GTC>ATC	30	30		p.V324I(1)	ovary(1)|skin(1)	2	Broad	vesicular nucleotide transporter SLC17A9			61596986		0.652	ENSG00000101194	14200	g.chr20:61596986G>A	exocytosis|transmembrane transport	integral to membrane	transporter activity							350.861634	KEEP	99	62	-1	304	192	99	62	-1	382.250965	304	192	0.254355	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC17A9_uc002ydz.3_Missense_Mutation_p.V318I|SLC17A9_uc011aap.1_Missense_Mutation_p.V344I	67	GBM-06-0745-TP	p.V324I	G	CCTCTCCAGCGTCTTTGCTCT	NM_022082	NP_071365	61596986	Q9BYT1	S17A9_HUMAN	0			10	1154	+	A	A			Missense_Mutation	324			Helical; (Potential).			
SLC17A9	0	broad.mit.edu	GRCh37	20	61596500	61596500	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370351.4:c.927G>A	p.Thr309=	p.T309=	ENST00000370351	NM_022082.3	309	acG/acA	0	A:0.0003		1			A	T	uc002yea.3	protein_coding	YES	CCDS42901.1			927/1311									ovary(1)|skin(1)	2	c.(925-927)ACG>ACA			Superfamily_domains:SSF103473,Pfam_domain:PF07690,Gene3D:1.20.1250.20,hmmpanther:PTHR11662:SF183,hmmpanther:PTHR11662,PROSITE_profiles:PS50850	vesicular nucleotide transporter SLC17A9			A:0	ENSP00000359376		13-Sep	4.14E-05	0.000204	8.65E-05		0.000151			6.06E-05	rs370727216,COSM3405270	13-Sep	.		ENST00000370351	Transcript	1		exocytosis|transmembrane transport	integral to membrane	transporter activity	ENSG00000101194	g.chr20:61596500G>A	16192			LOW								--	--	1																																		SLC17A9_uc002ydz.3_Silent_p.T303T|SLC17A9_uc011aap.1_Silent_p.T329T	0,1	1			p.T309T	NM_022082	NP_071365			0,1	S17A9_HUMAN	SLC17A9	HGNC	Q9BYT1	S17A9_HUMAN					9	1111	+			UPI000014051D	309					SNV	SLC17A9,synonymous_variant,p.=,ENST00000370349,;SLC17A9,synonymous_variant,p.=,ENST00000370351,NM_022082.3;SLC17A9,non_coding_transcript_exon_variant,,ENST00000488738,;SLC17A9,non_coding_transcript_exon_variant,,ENST00000459704,;SLC17A9,non_coding_transcript_exon_variant,,ENST00000483113,;SLC17A9,downstream_gene_variant,,ENST00000487303,;	uc002yea.3	c.927G>A	1058/2539	2	2			c.927G>A						20	SNP	c.(925-927)ACG>ACA	43	43			ovary(1)|skin(1)	2	Broad	vesicular nucleotide transporter SLC17A9			61596500		0.587	ENSG00000101194	14200	g.chr20:61596500G>A	exocytosis|transmembrane transport	integral to membrane	transporter activity							-43.370563	KEEP	0	4	-1	100	127	0	4	-1	6.85067	100	127	0.020513	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC17A9_uc002ydz.3_Silent_p.T303T|SLC17A9_uc011aap.1_Silent_p.T329T	249	GBM-32-5222-TP	p.T309T	G	GAGCCATCACGGTGCGGAAGC	NM_022082	NP_071365	61596500	Q9BYT1	S17A9_HUMAN	0			9	1111	+	A	A			Silent	309						
SLC17A9	63910		GRCh37	20	61595026	61595026	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000370351.4:c.816C>T	p.Asp272=	p.D272=	ENST00000370351	NM_022082.3	272	gaC/gaT	0																																																																																																																																																																																																																																												
SLC18A1	6570	broad.mit.edu	GRCh37	8	20022464	20022464	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0157-01	TCGA-06-0157-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000440926.1:c.931T>A	p.Phe311Ile	p.F311I	ENST00000440926	NM_001135691.2	311	Ttt/Att	0			1			T	F/I	uc011kyq.1	protein_coding		CCDS6013.1			931/1578									ovary(2)	2	c.(931-933)TTT>ATT			Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR24004,hmmpanther:PTHR24004:SF71,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix	solute carrier family 18 (vesicular monoamine),				ENSP00000276373		16-Oct									COSM2150029	16-Oct	.		ENST00000276373	Transcript			neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity	ENSG00000036565	g.chr8:20022464A>T	10934			MODERATE		0.985	low	getma.org/?cm=msa&ty=f&p=VMAT1_HUMAN&rb=77&re=433&var=F311I	NA	getma.org/?cm=var&var=hg19,8,20022464,A,T&fts=all	F311I	--	--	1																																		SLC18A1_uc003wzl.2_Missense_Mutation_p.F98I|SLC18A1_uc003wzm.2_Missense_Mutation_p.F311I|SLC18A1_uc011kyr.1_Missense_Mutation_p.F311I|SLC18A1_uc003wzn.2_Intron|SLC18A1_uc010ltf.2_RNA|SLC18A1_uc003wzo.2_Intron	1			benign(0.395)	p.F311I	NM_001135691	NP_001129163		tolerated(0.23)	1	VMAT1_HUMAN	SLC18A1	HGNC	P54219	VMAT1_HUMAN		Colorectal(74;0.0747)			11	1402	-			UPI00001389CE	311			Helical; (Potential).		SNV	SLC18A1,missense_variant,p.Phe311Ile,ENST00000440926,NM_001135691.2;SLC18A1,missense_variant,p.Phe311Ile,ENST00000437980,NM_001142325.1;SLC18A1,missense_variant,p.Phe311Ile,ENST00000276373,NM_003053.3;SLC18A1,missense_variant,p.Phe311Ile,ENST00000381608,;SLC18A1,intron_variant,,ENST00000265808,NM_001142324.1;SLC18A1,intron_variant,,ENST00000519026,;SLC18A1,missense_variant,p.Phe311Ile,ENST00000517776,;	uc011kyq.1	c.931T>A	1198/2753	1	1			c.931T>A						8	SNP	c.(931-933)TTT>ATT	10	10			ovary(2)	2	Broad	solute carrier family 18 (vesicular monoamine),			20022464		0.612	ENSG00000036565	14201	g.chr8:20022464A>T	neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity							131.595742	KEEP	26	24	-1	35	27	26	24	-1	131.733686	35	27	0.460784	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC18A1_uc003wzl.2_Missense_Mutation_p.F98I|SLC18A1_uc003wzm.2_Missense_Mutation_p.F311I|SLC18A1_uc011kyr.1_Missense_Mutation_p.F311I|SLC18A1_uc003wzn.2_Intron|SLC18A1_uc010ltf.2_RNA|SLC18A1_uc003wzo.2_Intron	28	GBM-06-0157-TP	p.F311I	A	ATGTTGGCAAAGCAGATGGAC	NM_001135691	NP_001129163	20022464	P54219	VMAT1_HUMAN	0		Colorectal(74;0.0747)	11	1402	-	T	T			Missense_Mutation	311			Helical; (Potential).			
SLC18A2	0	broad.mit.edu	GRCh37	10	119014867	119014867	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-5216-01	TCGA-28-5216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298472.5:c.780C>T	p.Leu260=	p.L260=	ENST00000298472	NM_003054.4	260	ctC/ctT	0			1			T	L	uc001ldd.1	protein_coding	YES	CCDS7599.1			780/1545										0	c.(778-780)CTC>CTT			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24004,hmmpanther:PTHR24004:SF63,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	solute carrier family 18 (vesicular monoamine),	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)			ENSP00000298472		16-Jul									COSM3396938	16-Jul	.		ENST00000298472	Transcript	1		neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	ENSG00000165646	g.chr10:119014867C>T	10935			LOW								--	--	1																																		SLC18A2_uc009xyy.1_Silent_p.L57L	1	1			p.L260L	NM_003054	NP_003045			1	VMAT2_HUMAN	SLC18A2	HGNC	Q05940	VMAT2_HUMAN		all cancers(201;0.029)			7	811	+		Colorectal(252;0.19)	UPI00001389DE	260			Helical; (Potential).		SNV	SLC18A2,synonymous_variant,p.=,ENST00000298472,NM_003054.4;SLC18A2,non_coding_transcript_exon_variant,,ENST00000497497,;	uc001ldd.1	c.780C>T	923/3852	2	2			c.780C>T						10	SNP	c.(778-780)CTC>CTT	24	24				0	Broad	solute carrier family 18 (vesicular monoamine),		Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	119014867		0.627	ENSG00000165646	14202	g.chr10:119014867C>T	neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity							163.532407	KEEP	25	30	-1	6	6	25	30	-1	168.9656	6	6	0.813559	1	0	0	0	0	0	0	1	0	--	--		0	T			SLC18A2_uc009xyy.1_Silent_p.L57L	223	GBM-28-5216-TP	p.L260L	C	CCCTGGTACTCTTGGATGGAG	NM_003054	NP_003045	119014867	Q05940	VMAT2_HUMAN	0		all cancers(201;0.029)	7	811	+	T	T		Colorectal(252;0.19)	Silent	260			Helical; (Potential).			
SLC18A2	6571		GRCh37	10	119003545	119003545	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000298472.5:c.185C>T	p.Thr62Met	p.T62M	ENST00000298472	NM_003054.4	62	aCg/aTg	0																																																																																																																																																																																																																																												
SLC18A3	6572		GRCh37	10	50819867	50819867	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000374115.3:c.1081G>A	p.Ala361Thr	p.A361T	ENST00000374115	NM_003055.2	361	Gcg/Acg	0																																																																																																																																																																																																																																												
SLC19A3	80704		GRCh37	2	228560683	228560683	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000258403.3:c.1094A>G	p.Tyr365Cys	p.Y365C	ENST00000258403	NM_025243.3	365	tAc/tGc	0																																																																																																																																																																																																																																												
SLC1A2	0	broad.mit.edu	GRCh37	11	35313908	35313908	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278379.3:c.1017G>A	p.Val339=	p.V339=	ENST00000278379	NM_004171.3	339	gtG/gtA	0			1			T	V	uc001mwd.2	protein_coding	YES	CCDS31459.1			1017/1725									ovary(2)|central_nervous_system(1)	3	c.(1015-1017)GTG>GTA			Superfamily_domains:0053221,Gene3D:2nwlC00,Pfam_domain:PF00375,Prints_domain:PR00173,hmmpanther:PTHR11958,hmmpanther:PTHR11958:SF43,Transmembrane_helices:TMhelix	excitatory amino acid transporter 2	L-Glutamic Acid(DB00142)			ENSP00000278379		11-Jul									COSM2156114	11-Jul	.		ENST00000278379	Transcript			D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	ENSG00000110436	g.chr11:35313908C>T	10940			LOW								--	--	1																																		SLC1A2_uc001mwe.2_Silent_p.V330V|SLC1A2_uc010rev.1_Silent_p.V339V	1	1			p.V339V	NM_004171	NP_004162			1	EAA2_HUMAN	SLC1A2	HGNC	P43004	EAA2_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		A2A2U1_HUMAN		7	1609	-	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	UPI0000129B12	339			Helical; (Potential).		SNV	SLC1A2,synonymous_variant,p.=,ENST00000278379,NM_004171.3;SLC1A2,synonymous_variant,p.=,ENST00000395753,NM_001252652.1;SLC1A2,synonymous_variant,p.=,ENST00000395750,NM_001195728.2;SLC1A2,synonymous_variant,p.=,ENST00000606205,;SLC1A2,synonymous_variant,p.=,ENST00000531628,;	uc001mwd.2	c.1017G>A	1300/11696	1	1			c.1017G>A						11	SNP	c.(1015-1017)GTG>GTA	9	9			ovary(2)|central_nervous_system(1)	3	Broad	excitatory amino acid transporter 2		L-Glutamic Acid(DB00142)	35313908		0.478	ENSG00000110436	14208	g.chr11:35313908C>T	D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)			NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)			131.310496	KEEP	23	39	-1	100	111	23	39	-1	147.211896	100	111	0.234818	1	0	0	0	0	0	0	1	0	--	--		0	T			SLC1A2_uc001mwe.2_Silent_p.V330V|SLC1A2_uc010rev.1_Silent_p.V339V	160	GBM-19-1790-TP	p.V339V	C	TTTTCCTGGTCACTACAAAGT	NM_004171	NP_004162	35313908	P43004	EAA2_HUMAN	0	STAD - Stomach adenocarcinoma(6;0.00731)		7	1609	-	T	T	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	Silent	339			Helical; (Potential).			
SLC1A3	6507		GRCh37	5	36677194	36677194	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000265113.4:c.768G>C	p.Val256=	p.V256=	ENST00000265113	NM_004172.4	256	gtG/gtC	0																																																																																																																																																																																																																																												
SLC1A4	0	broad.mit.edu	GRCh37	2	65237852	65237852	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-27-2526-01	TCGA-27-2526-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000234256.3:c.755A>G	p.Asn252Ser	p.N252S	ENST00000234256	NM_003038.4	252	aAt/aGt	0			1			G	N/S	uc010yqa.1	protein_coding	YES	CCDS1879.1			755/1599									pancreas(1)	1	c.(754-756)AAT>AGT			hmmpanther:PTHR11958:SF20,hmmpanther:PTHR11958,Pfam_domain:PF00375,Gene3D:2nwlC00,Superfamily_domains:0053221	solute carrier family 1, member 4 isoform 1	L-Alanine(DB00160)			ENSP00000234256		8-Apr	2.47E-05	9.61E-05				3.00E-05			rs748440919,COSM3407931	8-Apr	.		ENST00000234256	Transcript			cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity	ENSG00000115902	g.chr2:65237852A>G	10942			MODERATE		1.06	low	getma.org/?cm=msa&ty=f&p=SATT_HUMAN&rb=44&re=477&var=N252S	getma.org/pdb.php?prot=SATT_HUMAN&from=44&to=477&var=N252S	getma.org/?cm=var&var=hg19,2,65237852,A,G&fts=all	N252S	--	--	1																																		SLC1A4_uc010ypy.1_Missense_Mutation_p.N32S|SLC1A4_uc010ypz.1_Missense_Mutation_p.N32S|SLC1A4_uc010fcv.2_Missense_Mutation_p.N252S|SLC1A4_uc002sdh.2_Missense_Mutation_p.N32S	0,1	1		benign(0.029)	p.N252S	NM_003038	NP_003029		tolerated(0.1)	0,1	SATT_HUMAN	SLC1A4	HGNC	P43007	SATT_HUMAN					4	1077	+			UPI000000129F	252					SNV	SLC1A4,missense_variant,p.Asn252Ser,ENST00000234256,NM_003038.4;SLC1A4,missense_variant,p.Asn32Ser,ENST00000531327,NM_001193493.1;SLC1A4,non_coding_transcript_exon_variant,,ENST00000493121,;SLC1A4,non_coding_transcript_exon_variant,,ENST00000471551,;SLC1A4,non_coding_transcript_exon_variant,,ENST00000480594,;	uc010yqa.1	c.755A>G	998/4561	3	3			c.755A>G						2	SNP	c.(754-756)AAT>AGT	58	58			pancreas(1)	1	Broad	solute carrier family 1, member 4 isoform 1		L-Alanine(DB00160)	65237852		0.498	ENSG00000115902	14210	g.chr2:65237852A>G	cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity							273.826653	KEEP	49	39	-1	61	62	49	39	-1	274.94601	61	62	0.417112	1	0	0	0	0	1	0	0	0	--	--		0	G			SLC1A4_uc010ypy.1_Missense_Mutation_p.N32S|SLC1A4_uc010ypz.1_Missense_Mutation_p.N32S|SLC1A4_uc010fcv.2_Missense_Mutation_p.N252S|SLC1A4_uc002sdh.2_Missense_Mutation_p.N32S	203	GBM-27-2526-TP	p.N252S	A	CGTTTCTTCAATTCCCTCAAC	NM_003038	NP_003029	65237852	P43007	SATT_HUMAN	0			4	1077	+	G	G			Missense_Mutation	252						
SLC1A6	0	broad.mit.edu	GRCh37	19	15067440	15067440	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-2518-01	TCGA-27-2518-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221742.3:c.1017G>A	p.Leu339=	p.L339=	ENST00000221742	NM_005071.2	339	ctG/ctA	0			1			T	L	uc002naa.1	protein_coding	YES	CCDS12321.1			1017/1695									pancreas(3)|ovary(2)|skin(1)	6	c.(1015-1017)CTG>CTA			hmmpanther:PTHR11958,hmmpanther:PTHR11958:SF29,Pfam_domain:PF00375,Gene3D:2nwlC00,Superfamily_domains:0053221	solute carrier family 1 (high affinity	L-Glutamic Acid(DB00142)			ENSP00000221742		9-Jun									COSM3403841	9-Jun	.		ENST00000221742	Transcript			synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	ENSG00000105143	g.chr19:15067440C>T	10944			LOW								--	--	1																																		SLC1A6_uc010dzu.1_Intron|SLC1A6_uc010xod.1_Silent_p.L275L	1	1			p.L339L	NM_005071	NP_005062			1	EAA4_HUMAN	SLC1A6	HGNC	P48664	EAA4_HUMAN			Q8N753_HUMAN,M0R1V3_HUMAN,M0R106_HUMAN,M0QY32_HUMAN		6	1025	-			UPI0000129B1A	339					SNV	SLC1A6,synonymous_variant,p.=,ENST00000430939,;SLC1A6,synonymous_variant,p.=,ENST00000221742,NM_005071.2;SLC1A6,intron_variant,,ENST00000600144,;SLC1A6,downstream_gene_variant,,ENST00000598504,NM_001272087.1;SLC1A6,downstream_gene_variant,,ENST00000544886,NM_001272088.1;	uc002naa.1	c.1017G>A	1025/1719	2	2			c.1017G>A						19	SNP	c.(1015-1017)CTG>CTA	37	37			pancreas(3)|ovary(2)|skin(1)	6	Broad	solute carrier family 1 (high affinity		L-Glutamic Acid(DB00142)	15067440		0.587	ENSG00000105143	14212	g.chr19:15067440C>T	synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity							33.845163	KEEP	9	9	-1	48	38	9	9	-1	42.616201	48	38	0.182796	1	0	0	0	0	0	0	1	0	--	--		0	T			SLC1A6_uc010dzu.1_Intron|SLC1A6_uc010xod.1_Silent_p.L275L	198	GBM-27-2518-TP	p.L339L	C	TGTACATGCCCAGCTGACCCC	NM_005071	NP_005062	15067440	P48664	EAA4_HUMAN	0			6	1025	-	T	T			Silent	339						
SLC1A6	0	broad.mit.edu	GRCh37	19	15067457	15067457	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5211-01	TCGA-28-5211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221742.3:c.1000G>A	p.Val334Ile	p.V334I	ENST00000221742	NM_005071.2	334	Gtc/Atc	0			1			T	V/I	uc002naa.1	protein_coding	YES	CCDS12321.1			1000/1695								p.V334I(1)	pancreas(3)|ovary(2)|skin(1)	6	c.(1000-1002)GTC>ATC			hmmpanther:PTHR11958,hmmpanther:PTHR11958:SF29,Pfam_domain:PF00375,Gene3D:2nwlC00,Superfamily_domains:0053221	solute carrier family 1 (high affinity	L-Glutamic Acid(DB00142)			ENSP00000221742		9-Jun	3.29E-05		8.65E-05			3.00E-05		6.10E-05	rs751282250,COSM84500	9-Jun	.		ENST00000221742	Transcript			synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	ENSG00000105143	g.chr19:15067457C>T	10944			MODERATE		1.185	low	getma.org/?cm=msa&ty=f&p=EAA4_HUMAN&rb=58&re=522&var=V334I	getma.org/pdb.php?prot=EAA4_HUMAN&from=58&to=522&var=V334I	getma.org/?cm=var&var=hg19,19,15067457,C,T&fts=all	V334I	--	--	1																																		SLC1A6_uc010dzu.1_Intron|SLC1A6_uc010xod.1_Missense_Mutation_p.V270I	0,1	1		benign(0.027)	p.V334I	NM_005071	NP_005062		tolerated(0.52)	0,1	EAA4_HUMAN	SLC1A6	HGNC	P48664	EAA4_HUMAN			Q8N753_HUMAN,M0R1V3_HUMAN,M0R106_HUMAN,M0QY32_HUMAN		6	1008	-			UPI0000129B1A	334					SNV	SLC1A6,missense_variant,p.Val270Ile,ENST00000430939,;SLC1A6,missense_variant,p.Val334Ile,ENST00000221742,NM_005071.2;SLC1A6,intron_variant,,ENST00000600144,;SLC1A6,downstream_gene_variant,,ENST00000598504,NM_001272087.1;SLC1A6,downstream_gene_variant,,ENST00000544886,NM_001272088.1;	uc002naa.1	c.1000G>A	1008/1719	1	1			c.1000G>A						19	SNP	c.(1000-1002)GTC>ATC	3	3		p.V334I(1)	pancreas(3)|ovary(2)|skin(1)	6	Broad	solute carrier family 1 (high affinity		L-Glutamic Acid(DB00142)	15067457		0.582	ENSG00000105143	14212	g.chr19:15067457C>T	synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity							16.822275	KEEP	9	7	-1	32	26	9	7	-1	21.686639	32	26	0.209677	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC1A6_uc010dzu.1_Intron|SLC1A6_uc010xod.1_Missense_Mutation_p.V270I	219	GBM-28-5211-TP	p.V334I	C	CCCCCCAGGACGGCCATGTCT	NM_005071	NP_005062	15067457	P48664	EAA4_HUMAN	0			6	1008	-	T	T			Missense_Mutation	334						
SLC1A6	0	broad.mit.edu	GRCh37	19	15083572	15083572	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01	TCGA-41-5651-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221742.3:c.151C>T	p.Arg51Cys	p.R51C	ENST00000221742	NM_005071.2	51	Cgc/Tgc	0		A:0	1	A:0		A	R/C	uc002naa.1	protein_coding	YES	CCDS12321.1			151/1695									pancreas(3)|ovary(2)|skin(1)	6	c.(151-153)CGC>TGC			hmmpanther:PTHR11958,hmmpanther:PTHR11958:SF29,Gene3D:2nwlC00	solute carrier family 1 (high affinity	L-Glutamic Acid(DB00142)	A:0		ENSP00000221742	A:0	9-Jan	3.30E-05							0.000248	rs558935555,COSM3282739,COSM3403843	9-Jan	.		ENST00000221742	Transcript		A:0.0002	synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	ENSG00000105143	g.chr19:15083572G>A	10944			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=EAA4_HUMAN&rb=1&re=57&var=R51C	NA	getma.org/?cm=var&var=hg19,19,15083572,G,A&fts=all	R51C	-0.935	neutral	1																																		SLC1A6_uc010dzu.1_Missense_Mutation_p.R51C|SLC1A6_uc010xod.1_Missense_Mutation_p.A55V|SLC1A6_uc002nab.2_Missense_Mutation_p.R51C|SLC1A6_uc002nac.2_Missense_Mutation_p.R51C|SLC1A6_uc002nad.1_Missense_Mutation_p.R51C	0,1,1	1		probably_damaging(0.985)	p.R51C	NM_005071	NP_005062	A:0.001	tolerated(0.05)	0,1,1	EAA4_HUMAN	SLC1A6	HGNC	P48664	EAA4_HUMAN			Q8N753_HUMAN,M0R1V3_HUMAN,M0R106_HUMAN,M0QY32_HUMAN		1	159	-			UPI0000129B1A	51			Cytoplasmic (Potential).		SNV	SLC1A6,missense_variant,p.Arg51Cys,ENST00000598504,NM_001272087.1;SLC1A6,missense_variant,p.Arg51Cys,ENST00000544886,NM_001272088.1;SLC1A6,missense_variant,p.Ala55Val,ENST00000430939,;SLC1A6,missense_variant,p.Arg51Cys,ENST00000600144,;SLC1A6,missense_variant,p.Arg51Cys,ENST00000221742,NM_005071.2;SLC1A6,missense_variant,p.Arg51Cys,ENST00000597262,;SLC1A6,missense_variant,p.Ala55Val,ENST00000599636,;SLC1A6,missense_variant,p.Arg51Cys,ENST00000601761,;SLC1A6,missense_variant,p.Arg51Cys,ENST00000595863,;SLC1A6,downstream_gene_variant,,ENST00000594383,;SLC1A6,non_coding_transcript_exon_variant,,ENST00000596697,;	uc002naa.1	c.151C>T	159/1719	2	2			c.151C>T						19	SNP	c.(151-153)CGC>TGC	43	43			pancreas(3)|ovary(2)|skin(1)	6	Broad	solute carrier family 1 (high affinity		L-Glutamic Acid(DB00142)	15083572		0.677	ENSG00000105143	14212	g.chr19:15083572G>A	synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity							33.391318	KEEP	6	8	-1	11	12	6	8	-1	33.738053	11	12	0.387097	1	0	0	0	0	1	0	0	0	-0.935	neutral		0	A			SLC1A6_uc010dzu.1_Missense_Mutation_p.R51C|SLC1A6_uc010xod.1_Missense_Mutation_p.A55V|SLC1A6_uc002nab.2_Missense_Mutation_p.R51C|SLC1A6_uc002nac.2_Missense_Mutation_p.R51C|SLC1A6_uc002nad.1_Missense_Mutation_p.R51C	258	GBM-41-5651-TP	p.R51C	G	CGCAGGAAGCGCAGCACGTGC	NM_005071	NP_005062	15083572	P48664	EAA4_HUMAN	0			1	159	-	A	A			Missense_Mutation	51			Cytoplasmic (Potential).			
SLC1A6	0	broad.mit.edu	GRCh37	19	15061033	15061033	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01	TCGA-74-6573-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221742.3:c.1669C>T	p.Arg557Trp	p.R557W	ENST00000221742	NM_005071.2	557	Cgg/Tgg	0	A:0		1			A	R/W	uc002naa.1	protein_coding	YES	CCDS12321.1			1669/1695									pancreas(3)|ovary(2)|skin(1)	6	c.(1669-1671)CGG>TGG			hmmpanther:PTHR11958,hmmpanther:PTHR11958:SF29	solute carrier family 1 (high affinity	L-Glutamic Acid(DB00142)		A:0.0001	ENSP00000221742		9-Sep	2.47E-05					5.17E-05			rs370044376,COSM3403839	9-Sep	.		ENST00000221742	Transcript			synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	ENSG00000105143	g.chr19:15061033G>A	10944			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=EAA4_HUMAN&rb=523&re=564&var=R557W	NA	getma.org/?cm=var&var=hg19,19,15061033,G,A&fts=all	R557W	--	--	1																																		SLC1A6_uc010dzu.1_Missense_Mutation_p.R479W|SLC1A6_uc010xod.1_Missense_Mutation_p.R493W	0,1	1		probably_damaging(0.985)	p.R557W	NM_005071	NP_005062		deleterious(0.03)	0,1	EAA4_HUMAN	SLC1A6	HGNC	P48664	EAA4_HUMAN			Q8N753_HUMAN,M0R1V3_HUMAN,M0R106_HUMAN,M0QY32_HUMAN		9	1677	-			UPI0000129B1A	557					SNV	SLC1A6,missense_variant,p.Arg493Trp,ENST00000430939,;SLC1A6,missense_variant,p.Arg479Trp,ENST00000600144,;SLC1A6,missense_variant,p.Arg557Trp,ENST00000221742,NM_005071.2;	uc002naa.1	c.1669C>T	1677/1719	1	1			c.1669C>T						19	SNP	c.(1669-1671)CGG>TGG	54	54			pancreas(3)|ovary(2)|skin(1)	6	Broad	solute carrier family 1 (high affinity		L-Glutamic Acid(DB00142)	15061033		0.647	ENSG00000105143	14212	g.chr19:15061033G>A	synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity							22.462286	KEEP	5	5	-1	12	14	5	5	-1	23.535222	12	14	0.3	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC1A6_uc010dzu.1_Missense_Mutation_p.R479W|SLC1A6_uc010xod.1_Missense_Mutation_p.R493W	260	GBM-74-6573-TP	p.R557W	G	TTGCCTCCCCGTCCCCGGGAT	NM_005071	NP_005062	15061033	P48664	EAA4_HUMAN	0			9	1677	-	A	A			Missense_Mutation	557						
SLC1A6	0	broad.mit.edu	GRCh37	19	15073138	15073138	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01	TCGA-76-6192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221742.3:c.611C>T	p.Thr204Met	p.T204M	ENST00000221742	NM_005071.2	204	aCg/aTg	0			1			A	T/M	uc002naa.1	protein_coding	YES	CCDS12321.1			611/1695									pancreas(3)|ovary(2)|skin(1)	6	c.(610-612)ACG>ATG			Low_complexity_(Seg):seg,hmmpanther:PTHR11958,hmmpanther:PTHR11958:SF29,Pfam_domain:PF00375	solute carrier family 1 (high affinity	L-Glutamic Acid(DB00142)			ENSP00000221742		9-May									COSM241624	9-May	.		ENST00000221742	Transcript			synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	ENSG00000105143	g.chr19:15073138G>A	10944			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=EAA4_HUMAN&rb=58&re=522&var=T204M	NA	getma.org/?cm=var&var=hg19,19,15073138,G,A&fts=all	T204M	--	--	1																																		SLC1A6_uc010dzu.1_Missense_Mutation_p.T204M|SLC1A6_uc010xod.1_Missense_Mutation_p.T140M|SLC1A6_uc002nab.2_Missense_Mutation_p.T204M|SLC1A6_uc002nac.2_Missense_Mutation_p.T204M	1	1		probably_damaging(0.998)	p.T204M	NM_005071	NP_005062		tolerated(0.07)	1	EAA4_HUMAN	SLC1A6	HGNC	P48664	EAA4_HUMAN			Q8N753_HUMAN,M0R1V3_HUMAN,M0R106_HUMAN,M0QY32_HUMAN		5	619	-			UPI0000129B1A	204			Extracellular (Potential).		SNV	SLC1A6,missense_variant,p.Thr204Met,ENST00000598504,NM_001272087.1;SLC1A6,missense_variant,p.Thr204Met,ENST00000544886,NM_001272088.1;SLC1A6,missense_variant,p.Thr140Met,ENST00000430939,;SLC1A6,missense_variant,p.Thr204Met,ENST00000600144,;SLC1A6,missense_variant,p.Thr204Met,ENST00000221742,NM_005071.2;SLC1A6,downstream_gene_variant,,ENST00000596697,;	uc002naa.1	c.611C>T	619/1719	2	2			c.611C>T						19	SNP	c.(610-612)ACG>ATG	22	22			pancreas(3)|ovary(2)|skin(1)	6	Broad	solute carrier family 1 (high affinity		L-Glutamic Acid(DB00142)	15073138		0.413	ENSG00000105143	14212	g.chr19:15073138G>A	synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity							47.008384	KEEP	14	8	-1	31	49	14	8	-1	53.831877	31	49	0.221053	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC1A6_uc010dzu.1_Missense_Mutation_p.T204M|SLC1A6_uc010xod.1_Missense_Mutation_p.T140M|SLC1A6_uc002nab.2_Missense_Mutation_p.T204M|SLC1A6_uc002nac.2_Missense_Mutation_p.T204M	275	GBM-76-6192-TP	p.T204M	G	TACCACCCTCGTGCTGTACTG	NM_005071	NP_005062	15073138	P48664	EAA4_HUMAN	0			5	619	-	A	A			Missense_Mutation	204			Extracellular (Potential).			
SLC1A6	6511		GRCh37	19	15082585	15082585	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000221742.3:c.307C>A	p.Leu103Met	p.L103M	ENST00000221742	NM_005071.2	103	Ctg/Atg	0																																																																																																																																																																																																																																												
SLC1A6	6511		GRCh37	19	15067342	15067342	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000221742.3:c.1115C>G	p.Pro372Arg	p.P372R	ENST00000221742	NM_005071.2	372	cCc/cGc	0																																																																																																																																																																																																																																												
SLC1A7	0	broad.mit.edu	GRCh37	1	53559217	53559217	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371494.4:c.713G>A	p.Arg238His	p.R238H	ENST00000371494	NM_006671.4	238	cGc/cAc	0			1			T	R/H	uc001cuy.2	protein_coding	YES	CCDS574.1			713/1683									ovary(2)|large_intestine(1)	3	c.(712-714)CGC>CAC			Transmembrane_helices:TMhelix,hmmpanther:PTHR11958:SF22,hmmpanther:PTHR11958,Gene3D:2nwlC00,Pfam_domain:PF00375,Superfamily_domains:0053221,Prints_domain:PR00173	solute carrier family 1 (glutamate transporter),	L-Glutamic Acid(DB00142)			ENSP00000360549		11-Jun	3.30E-05								rs769472543,COSM2193257	11-Jun	.		ENST00000371494	Transcript				integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	ENSG00000162383	g.chr1:53559217C>T	10945			MODERATE		1.725	low	getma.org/?cm=msa&ty=f&p=EAA5_HUMAN&rb=19&re=476&var=R238H	getma.org/pdb.php?prot=EAA5_HUMAN&from=19&to=476&var=R238H	getma.org/?cm=var&var=hg19,1,53559217,C,T&fts=all	R238H	--	--	1																																		SLC1A7_uc001cux.2_5'Flank	0,1	1		probably_damaging(0.953)	p.R238H	NM_006671	NP_006662		deleterious(0.02)	0,1	EAA5_HUMAN	SLC1A7	HGNC	O00341	EAA5_HUMAN		Colorectal(1306;0.234)	F1T0D2_HUMAN		6	881	-			UPI000013DED8	238					SNV	SLC1A7,missense_variant,p.Arg238His,ENST00000371494,NM_006671.4;SLC1A7,upstream_gene_variant,,ENST00000488036,;	uc001cuy.2	c.713G>A	841/2637	2	2			c.713G>A						1	SNP	c.(712-714)CGC>CAC	23	23			ovary(2)|large_intestine(1)	3	Broad	solute carrier family 1 (glutamate transporter),		L-Glutamic Acid(DB00142)	53559217		0.617	ENSG00000162383	14213	g.chr1:53559217C>T		integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	NSCLC(128;80 1811 21245 38490 51715)			NSCLC(128;80 1811 21245 38490 51715)			0.89993	KEEP	0	3	-1	15	18	0	3	-1	6.987335	15	18	0.085714	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC1A7_uc001cux.2_5'Flank	218	GBM-28-5209-TP	p.R238H	C	GTCACCCATGCGGCCCAGCAT	NM_006671	NP_006662	53559217	O00341	EAA5_HUMAN	0		Colorectal(1306;0.234)	6	881	-	T	T			Missense_Mutation	238						
SLC20A1	0	broad.mit.edu	GRCh37	2	113417335	113417335	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs142437239		TCGA-15-0742-01	TCGA-15-0742-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000272542.3:c.1603G>A	p.Val535Ile	p.V535I	ENST00000272542	NM_005415.4	535	Gta/Ata	0	A:0		1			A	V/I	uc002tib.2	protein_coding	YES	CCDS2099.1			1603/2040									ovary(2)	2	c.(1603-1605)GTA>ATA			Pfam_domain:PF01384,hmmpanther:PTHR11101,hmmpanther:PTHR11101:SF46	solute carrier family 20 (phosphate			A:0.0002	ENSP00000272542		11-Aug	3.29E-05					4.59E-05		7.07E-05	rs142437239,COSM3406791	11-Aug	.		ENST00000272542	Transcript			phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	ENSG00000144136	g.chr2:113417335G>A	10946			MODERATE		1.96	medium	getma.org/?cm=msa&ty=f&p=S20A1_HUMAN&rb=39&re=665&var=V535I	NA	getma.org/?cm=var&var=hg19,2,113417335,G,A&fts=all	V535I	--	--	1																																		SLC20A1_uc002tic.1_Missense_Mutation_p.V347I	0,1	1		possibly_damaging(0.902)	p.V535I	NM_005415	NP_005406		deleterious(0)	0,1	S20A1_HUMAN	SLC20A1	HGNC	Q8WUM9	S20A1_HUMAN			A7LNJ1_HUMAN		8	2049	+			UPI0000071362	535			Extracellular (Potential).		SNV	SLC20A1,missense_variant,p.Val535Ile,ENST00000272542,NM_005415.4;SLC20A1,downstream_gene_variant,,ENST00000433924,;SLC20A1,downstream_gene_variant,,ENST00000480984,;SLC20A1,non_coding_transcript_exon_variant,,ENST00000490674,;SLC20A1,downstream_gene_variant,,ENST00000498224,;SLC20A1,downstream_gene_variant,,ENST00000413135,;SLC20A1,downstream_gene_variant,,ENST00000456264,;	uc002tib.2	c.1603G>A	2142/3381	2	2			c.1603G>A						2	SNP	c.(1603-1605)GTA>ATA	48	48			ovary(2)	2	Broad	solute carrier family 20 (phosphate			113417335		0.458	ENSG00000144136	14214	g.chr2:113417335G>A	phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity							-55.932807	KEEP	2	3	-1	135	125	2	3	-1	8.366795	135	125	0.02008	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC20A1_uc002tic.1_Missense_Mutation_p.V347I	153	GBM-15-0742-TP	p.V535I	G	TGGCAATGACGTAAGGTCAGT	NM_005415	NP_005406	113417335	Q8WUM9	S20A1_HUMAN	0			8	2049	+	A	A			Missense_Mutation	535			Extracellular (Potential).			
SLC22A10	387775	broad.mit.edu	GRCh37	11	63072232	63072232	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01	TCGA-06-0939-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332793.6:c.1469C>T	p.Thr490Met	p.T490M	ENST00000332793	NM_001039752.3	490	aCg/aTg	0	T:0.0035	T:0.0038	1	T:0.0014		T	T/M	uc009yor.2	protein_coding	YES	CCDS41661.1			1469/1626									ovary(2)	2	c.(1468-1470)ACG>ATG			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF38,Pfam_domain:PF00083,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	solute carrier family 22, member 10		T:0	T:0	ENSP00000327569	T:0	10-Sep	0.000389	0.00398	0.000261			4.50E-05	0.00222		rs193006130,COSM2152438	10-Sep	common_variant		ENST00000332793	Transcript		T:0.0012		integral to membrane	transmembrane transporter activity	ENSG00000184999	g.chr11:63072232C>T	18057			MODERATE		0.865	low	getma.org/?cm=msa&ty=f&p=S22AA_HUMAN&rb=102&re=527&var=T490M	NA	getma.org/?cm=var&var=hg19,11,63072232,C,T&fts=all	T490M	--	--	1																																		SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_3'UTR	0,1	1		benign(0.028)	p.T490M	NM_001039752	NP_001034841	T:0	tolerated(0.29)	0,1	S22AA_HUMAN	SLC22A10	HGNC	Q63ZE4	S22AA_HUMAN			B4DJY8_HUMAN		9	1677	+			UPI0000D62620	490			Helical; (Potential).		SNV	SLC22A10,missense_variant,p.Thr490Met,ENST00000332793,NM_001039752.3;SLC22A10,3_prime_UTR_variant,,ENST00000544661,;SLC22A10,intron_variant,,ENST00000535888,;SLC22A10,intron_variant,,ENST00000526800,;SLC22A10,intron_variant,,ENST00000525620,;SLC22A10,3_prime_UTR_variant,,ENST00000533483,;SLC22A10,downstream_gene_variant,,ENST00000532724,;	uc009yor.2	c.1469C>T	1471/2026	2	2			c.1469C>T						11	SNP	c.(1468-1470)ACG>ATG	48	48			ovary(2)	2	Broad	solute carrier family 22, member 10			63072232		0.423	ENSG00000184999	14217	g.chr11:63072232C>T		integral to membrane	transmembrane transporter activity							231.489219	KEEP	25	62	-1	93	88	25	62	-1	238.52465	93	88	0.32567	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_3'UTR	78	GBM-06-0939-TP	p.T490M	C	ATGACCTTAACGGTATTTTTT	NM_001039752	NP_001034841	63072232	Q63ZE4	S22AA_HUMAN	0			9	1677	+	T	T			Missense_Mutation	490			Helical; (Potential).			
SLC22A10	0	broad.mit.edu	GRCh37	11	63069908	63069908	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0781-01	TCGA-14-0781-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332793.6:c.1178G>A	p.Arg393Gln	p.R393Q	ENST00000332793	NM_001039752.3	393	cGa/cAa	0			1			A	R/Q	uc009yor.2	protein_coding	YES	CCDS41661.1			1178/1626									ovary(2)	2	c.(1177-1179)CGA>CAA			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF38,Pfam_domain:PF00083,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	solute carrier family 22, member 10				ENSP00000327569		10-Jul									COSM3398006	10-Jul	.		ENST00000332793	Transcript				integral to membrane	transmembrane transporter activity	ENSG00000184999	g.chr11:63069908G>A	18057			MODERATE		2.79	medium	getma.org/?cm=msa&ty=f&p=S22AA_HUMAN&rb=102&re=527&var=R393Q	NA	getma.org/?cm=var&var=hg19,11,63069908,G,A&fts=all	R393Q	--	--	1																																		SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.3_Intron|SLC22A10_uc010rmp.1_Intron	1	1		benign(0.223)	p.R393Q	NM_001039752	NP_001034841		tolerated(0.11)	1	S22AA_HUMAN	SLC22A10	HGNC	Q63ZE4	S22AA_HUMAN			B4DJY8_HUMAN		7	1386	+			UPI0000D62620	393			Helical; (Potential).		SNV	SLC22A10,missense_variant,p.Arg393Gln,ENST00000332793,NM_001039752.3;SLC22A10,intron_variant,,ENST00000544661,;SLC22A10,intron_variant,,ENST00000535888,;SLC22A10,intron_variant,,ENST00000526800,;SLC22A10,intron_variant,,ENST00000525620,;SLC22A10,intron_variant,,ENST00000533483,;SLC22A10,intron_variant,,ENST00000532724,;	uc009yor.2	c.1178G>A	1180/2026	2	2			c.1178G>A						11	SNP	c.(1177-1179)CGA>CAA	20	20			ovary(2)	2	Broad	solute carrier family 22, member 10			63069908		0.438	ENSG00000184999	14217	g.chr11:63069908G>A		integral to membrane	transmembrane transporter activity							10.941983	KEEP	3	6	-1	30	37	3	6	-1	20.579803	30	37	0.126761	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.3_Intron|SLC22A10_uc010rmp.1_Intron	133	GBM-14-0781-TP	p.R393Q	G	CTCATAGTTCGATGTCTTGCT	NM_001039752	NP_001034841	63069908	Q63ZE4	S22AA_HUMAN	0			7	1386	+	A	A			Missense_Mutation	393			Helical; (Potential).			
SLC22A10	0	broad.mit.edu	GRCh37	11	63071595	63071595	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs112720090		TCGA-27-1836-01	TCGA-27-1836-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332793.6:c.1301G>A	p.Arg434His	p.R434H	ENST00000332793	NM_001039752.3	434	cGt/cAt	0	A:0.0057	A:0.0045	1	A:0		A	R/H	uc009yor.2	protein_coding	YES	CCDS41661.1			1301/1626									ovary(2)	2	c.(1300-1302)CGT>CAT			PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF38,Pfam_domain:PF00083,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	solute carrier family 22, member 10		A:0	A:0.0002	ENSP00000327569	A:0	10-Aug	0.000652	0.005	0.000348			0.00039			rs112720090,COSM3398007	10-Aug	common_variant		ENST00000332793	Transcript		A:0.0012		integral to membrane	transmembrane transporter activity	ENSG00000184999	g.chr11:63071595G>A	18057			MODERATE		3.55	high	getma.org/?cm=msa&ty=f&p=S22AA_HUMAN&rb=102&re=527&var=R434H	NA	getma.org/?cm=var&var=hg19,11,63071595,G,A&fts=all	R434H	--	--	1																																		SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_Missense_Mutation_p.V228M	0,1	1		benign(0.262)	p.R434H	NM_001039752	NP_001034841	A:0	deleterious(0.04)	0,1	S22AA_HUMAN	SLC22A10	HGNC	Q63ZE4	S22AA_HUMAN			B4DJY8_HUMAN		8	1509	+			UPI0000D62620	434			Cytoplasmic (Potential).		SNV	SLC22A10,missense_variant,p.Val233Met,ENST00000544661,;SLC22A10,missense_variant,p.Arg434His,ENST00000332793,NM_001039752.3;SLC22A10,intron_variant,,ENST00000535888,;SLC22A10,intron_variant,,ENST00000526800,;SLC22A10,intron_variant,,ENST00000525620,;SLC22A10,missense_variant,p.Val336Met,ENST00000533483,;SLC22A10,missense_variant,p.Val228Met,ENST00000532724,;	uc009yor.2	c.1301G>A	1303/2026	1	1			c.1301G>A						11	SNP	c.(1300-1302)CGT>CAT	54	54			ovary(2)	2	Broad	solute carrier family 22, member 10			63071595		0.453	ENSG00000184999	14217	g.chr11:63071595G>A		integral to membrane	transmembrane transporter activity							263.781903	KEEP	61	62	-1	144	133	61	62	-1	272.833797	144	133	0.312715	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_Missense_Mutation_p.V228M	195	GBM-27-1836-TP	p.R434H	G	CAGACCCTGCGTGTGGCTTTG	NM_001039752	NP_001034841	63071595	Q63ZE4	S22AA_HUMAN	0			8	1509	+	A	A			Missense_Mutation	434			Cytoplasmic (Potential).			
SLC22A10	0	broad.mit.edu	GRCh37	11	63071595	63071595	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs112720090		TCGA-32-1977-01	TCGA-32-1977-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332793.6:c.1301G>A	p.Arg434His	p.R434H	ENST00000332793	NM_001039752.3	434	cGt/cAt	0	A:0.0057	A:0.0045	1	A:0		A	R/H	uc009yor.2	protein_coding	YES	CCDS41661.1			1301/1626									ovary(2)	2	c.(1300-1302)CGT>CAT			PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF38,Pfam_domain:PF00083,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	solute carrier family 22, member 10		A:0	A:0.0002	ENSP00000327569	A:0	10-Aug	0.000652	0.005	0.000348			0.00039			rs112720090,COSM3398007	10-Aug	common_variant		ENST00000332793	Transcript		A:0.0012		integral to membrane	transmembrane transporter activity	ENSG00000184999	g.chr11:63071595G>A	18057			MODERATE		3.55	high	getma.org/?cm=msa&ty=f&p=S22AA_HUMAN&rb=102&re=527&var=R434H	NA	getma.org/?cm=var&var=hg19,11,63071595,G,A&fts=all	R434H	--	--	1																																		SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_Missense_Mutation_p.V228M	0,1	1		benign(0.262)	p.R434H	NM_001039752	NP_001034841	A:0	deleterious(0.04)	0,1	S22AA_HUMAN	SLC22A10	HGNC	Q63ZE4	S22AA_HUMAN			B4DJY8_HUMAN		8	1509	+			UPI0000D62620	434			Cytoplasmic (Potential).		SNV	SLC22A10,missense_variant,p.Val233Met,ENST00000544661,;SLC22A10,missense_variant,p.Arg434His,ENST00000332793,NM_001039752.3;SLC22A10,intron_variant,,ENST00000535888,;SLC22A10,intron_variant,,ENST00000526800,;SLC22A10,intron_variant,,ENST00000525620,;SLC22A10,missense_variant,p.Val336Met,ENST00000533483,;SLC22A10,missense_variant,p.Val228Met,ENST00000532724,;	uc009yor.2	c.1301G>A	1303/2026	1	1			c.1301G>A						11	SNP	c.(1300-1302)CGT>CAT	54	54			ovary(2)	2	Broad	solute carrier family 22, member 10			63071595		0.453	ENSG00000184999	14217	g.chr11:63071595G>A		integral to membrane	transmembrane transporter activity							143.326752	KEEP	41	60	-1	151	188	41	60	-1	163.486516	151	188	0.219424	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_Missense_Mutation_p.V228M	229	GBM-32-1977-TP	p.R434H	G	CAGACCCTGCGTGTGGCTTTG	NM_001039752	NP_001034841	63071595	Q63ZE4	S22AA_HUMAN	0			8	1509	+	A	A			Missense_Mutation	434			Cytoplasmic (Potential).			
SLC22A11	55867	broad.mit.edu	GRCh37	11	64329818	64329818	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0221-01	TCGA-06-0221-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301891.4:c.732G>A	p.Ala244=	p.A244=	ENST00000301891	NM_018484.2	244	gcG/gcA	0			1			A	A	uc001oai.2	protein_coding	YES	CCDS8074.1			732/1653									ovary(1)|central_nervous_system(1)	2	c.(730-732)GCG>GCA			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24064:SF39,hmmpanther:PTHR24064,Pfam_domain:PF00083,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	solute carrier family 22 member 11	Probenecid(DB01032)			ENSP00000301891		10-Apr	4.94E-05					6.17E-05		0.000124	rs770582403,COSM3398015	10-Apr	.		ENST00000301891	Transcript			urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	ENSG00000168065	g.chr11:64329818G>A	18120			LOW								--	--	1																																		SLC22A11_uc001oah.1_Missense_Mutation_p.A210T|SLC22A11_uc001oaj.2_Silent_p.A244A|SLC22A11_uc009ypq.2_Silent_p.A244A|SLC22A11_uc001oak.1_Silent_p.A73A	0,1	1			p.A244A	NM_018484	NP_060954			0,1	S22AB_HUMAN	SLC22A11	HGNC	Q9NSA0	S22AB_HUMAN					4	1106	+			UPI000003ED3F	244			Helical; (Potential).		SNV	SLC22A11,synonymous_variant,p.=,ENST00000301891,NM_018484.2;SLC22A11,synonymous_variant,p.=,ENST00000377585,;SLC22A11,synonymous_variant,p.=,ENST00000377581,;SLC22A11,non_coding_transcript_exon_variant,,ENST00000490834,;SLC22A11,non_coding_transcript_exon_variant,,ENST00000478051,;SLC22A11,non_coding_transcript_exon_variant,,ENST00000460745,;	uc001oai.2	c.732G>A	1106/3860	2	2			c.732G>A						11	SNP	c.(730-732)GCG>GCA	34	34			ovary(1)|central_nervous_system(1)	2	Broad	solute carrier family 22 member 11		Probenecid(DB01032)	64329818		0.632	ENSG00000168065	14218	g.chr11:64329818G>A	urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity							-23.091108	KEEP	8	4	-1	111	103	8	4	-1	17.725134	111	103	0.052083	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC22A11_uc001oah.1_Missense_Mutation_p.A210T|SLC22A11_uc001oaj.2_Silent_p.A244A|SLC22A11_uc009ypq.2_Silent_p.A244A|SLC22A11_uc001oak.1_Silent_p.A73A	53	GBM-06-0221-TP	p.A244A	G	GCCAGGCGGCGCTGGGCGGCC	NM_018484	NP_060954	64329818	Q9NSA0	S22AB_HUMAN	0			4	1106	+	A	A			Silent	244			Helical; (Potential).			
SLC22A11	0	broad.mit.edu	GRCh37	11	64329558	64329558	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2518-01	TCGA-27-2518-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301891.4:c.580G>A	p.Val194Ile	p.V194I	ENST00000301891	NM_018484.2	194	Gtc/Atc	0			1			A	V/I	uc001oai.2	protein_coding	YES	CCDS8074.1			580/1653									ovary(1)|central_nervous_system(1)	2	c.(580-582)GTC>ATC			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24064:SF39,hmmpanther:PTHR24064,Pfam_domain:PF00083,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	solute carrier family 22 member 11	Probenecid(DB01032)			ENSP00000301891		10-Mar	3.29E-05			0.000232		1.51E-05		6.06E-05	rs754156235,COSM2157296	10-Mar	.		ENST00000301891	Transcript			urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	ENSG00000168065	g.chr11:64329558G>A	18120			MODERATE		-0.04	neutral	getma.org/?cm=msa&ty=f&p=S22AB_HUMAN&rb=99&re=526&var=V194I	NA	getma.org/?cm=var&var=hg19,11,64329558,G,A&fts=all	V194I	--	--	1																																OREG0004030	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	SLC22A11_uc001oah.1_Missense_Mutation_p.R159H|SLC22A11_uc001oaj.2_Missense_Mutation_p.V194I|SLC22A11_uc009ypq.2_Missense_Mutation_p.V194I|SLC22A11_uc001oak.1_Missense_Mutation_p.V23I	0,1	1		benign(0.067)	p.V194I	NM_018484	NP_060954		tolerated(0.6)	0,1	S22AB_HUMAN	SLC22A11	HGNC	Q9NSA0	S22AB_HUMAN					3	954	+			UPI000003ED3F	194			Helical; (Potential).		SNV	SLC22A11,missense_variant,p.Val194Ile,ENST00000301891,NM_018484.2;SLC22A11,missense_variant,p.Val194Ile,ENST00000377585,;SLC22A11,missense_variant,p.Val194Ile,ENST00000377581,;SLC22A11,non_coding_transcript_exon_variant,,ENST00000490834,;SLC22A11,non_coding_transcript_exon_variant,,ENST00000478051,;SLC22A11,non_coding_transcript_exon_variant,,ENST00000460745,;	uc001oai.2	c.580G>A	954/3860	2	2			c.580G>A						11	SNP	c.(580-582)GTC>ATC	34	34			ovary(1)|central_nervous_system(1)	2	Broad	solute carrier family 22 member 11		Probenecid(DB01032)	64329558		0.622	ENSG00000168065	14218	g.chr11:64329558G>A	urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity							58.463035	KEEP	15	9	-1	24	23	15	9	-1	60.008362	24	23	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	A	OREG0004030	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	SLC22A11_uc001oah.1_Missense_Mutation_p.R159H|SLC22A11_uc001oaj.2_Missense_Mutation_p.V194I|SLC22A11_uc009ypq.2_Missense_Mutation_p.V194I|SLC22A11_uc001oak.1_Missense_Mutation_p.V23I	198	GBM-27-2518-TP	p.V194I	G	CCCAACATTCGTCATCTACTG	NM_018484	NP_060954	64329558	Q9NSA0	S22AB_HUMAN	0			3	954	+	A	A			Missense_Mutation	194			Helical; (Potential).			
SLC22A14	0	broad.mit.edu	GRCh37	3	38355344	38355344	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-32-2495-01	TCGA-32-2495-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273173.4:c.1290C>G	p.Leu430=	p.L430=	ENST00000273173	NM_004803.3	430	ctC/ctG	0			1			G	L	uc010hhc.1	protein_coding	YES	CCDS2677.1			1290/1785										0	c.(1288-1290)CTC>CTG			Gene3D:1.20.1250.20,Pfam_domain:PF00083,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF48,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix	organic cation transporter like 4				ENSP00000273173		10-Jul									COSM3408635	10-Jul	.		ENST00000273173	Transcript				integral to plasma membrane	organic cation transmembrane transporter activity	ENSG00000144671	g.chr3:38355344C>G	8495			LOW								--	--	1																																		SLC22A14_uc003cib.2_Silent_p.L430L|SLC22A14_uc011ayo.1_RNA	1	1			p.L430L	NM_004803	NP_004794			1	S22AE_HUMAN	SLC22A14	HGNC	Q9Y267	S22AE_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)	F5H7H1_HUMAN		8	1332	+			UPI00001AE9A8	430			Helical; (Potential).		SNV	SLC22A14,synonymous_variant,p.=,ENST00000273173,NM_004803.3;SLC22A14,synonymous_variant,p.=,ENST00000448498,;	uc010hhc.1	c.1290C>G	1381/2202	3	3			c.1290C>G						3	SNP	c.(1288-1290)CTC>CTG	9	9				0	Broad	organic cation transporter like 4			38355344		0.577	ENSG00000144671	14221	g.chr3:38355344C>G		integral to plasma membrane	organic cation transmembrane transporter activity							-8.722466	KEEP	3	8	-1	98	94	3	8	-1	28.297599	98	94	0.060109	1	0	0	0	0	0	0	1	0	--	--		0	G			SLC22A14_uc003cib.2_Silent_p.L430L|SLC22A14_uc011ayo.1_RNA	237	GBM-32-2495-TP	p.L430L	C	GCATCTTTCTCCTCCAGCAGA	NM_004803	NP_004794	38355344	Q9Y267	S22AE_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)	8	1332	+	G	G			Silent	430			Helical; (Potential).			
SLC22A16	85413		GRCh37	6	110768146	110768146	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000368919.3:c.581del	p.Leu194CysfsTer4	p.L194Cfs*4	ENST00000368919	NM_033125.3	194	tTg/tg	0																																																																																																																																																																																																																																												
SLC22A17	51310	broad.mit.edu	GRCh37	14	23820969	23820969	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0939-01	TCGA-06-0939-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397267.1:c.363C>T	p.Pro121=	p.P121=	ENST00000397267		121	ccC/ccT	0			1			A	P	uc001wjl.2	protein_coding		CCDS9593.1			363/1617										0	c.(361-363)CCC>CCT			Transmembrane_helices:TMhelix,Superfamily_domains:SSF103473,Gene3D:1.20.1250.20,Pfam_domain:PF00083,PROSITE_patterns:PS00216,hmmpanther:PTHR24064:SF216,hmmpanther:PTHR24064,PROSITE_profiles:PS50850	solute carrier family 22, member 17 isoform a				ENSP00000206544		9-Feb									COSM2152406	9-Feb	.		ENST00000206544	Transcript			siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity	ENSG00000092096	g.chr14:23820969G>A	23095			LOW								--	--	1																																		SLC22A17_uc010akk.2_5'UTR|SLC22A17_uc001wjn.2_Intron|SLC22A17_uc001wjm.2_Silent_p.P121P|SLC22A17_uc010akl.1_Silent_p.P121P	1				p.P121P	NM_020372	NP_065105			1	S22AH_HUMAN	SLC22A17	HGNC	Q8WUG5	S22AH_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)			2	419	-	all_cancers(95;7.12e-06)		UPI0000126A49	121					SNV	SLC22A17,synonymous_variant,p.=,ENST00000354772,NM_016609.3;SLC22A17,synonymous_variant,p.=,ENST00000397267,;SLC22A17,synonymous_variant,p.=,ENST00000206544,NM_020372.2;SLC22A17,intron_variant,,ENST00000397260,;EFS,downstream_gene_variant,,ENST00000216733,NM_005864.3;EFS,downstream_gene_variant,,ENST00000351354,NM_032459.2,NM_001277174.1;RP11-124D2.3,upstream_gene_variant,,ENST00000554010,;SLC22A17,intron_variant,,ENST00000474057,;SLC22A17,upstream_gene_variant,,ENST00000474774,;SLC22A17,non_coding_transcript_exon_variant,,ENST00000557699,;SLC22A17,non_coding_transcript_exon_variant,,ENST00000556803,;SLC22A17,upstream_gene_variant,,ENST00000473917,;	uc001wjl.2	c.363C>T	700/2284	2	2			c.363C>T						14	SNP	c.(361-363)CCC>CCT	21	21				0	Broad	solute carrier family 22, member 17 isoform a			23820969		0.617	ENSG00000092096	14224	g.chr14:23820969G>A	siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity							69.574258	KEEP	17	17	-1	34	35	17	17	-1	71.472363	34	35	0.328767	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC22A17_uc010akk.2_5'UTR|SLC22A17_uc001wjn.2_Intron|SLC22A17_uc001wjm.2_Silent_p.P121P|SLC22A17_uc010akl.1_Silent_p.P121P	78	GBM-06-0939-TP	p.P121P	G	ACCTGTCTGCGGGGTAACCCA	NM_020372	NP_065105	23820969	Q8WUG5	S22AH_HUMAN	0		GBM - Glioblastoma multiforme(265;0.00643)	2	419	-	A	A	all_cancers(95;7.12e-06)		Silent	121						
SLC22A18	0	broad.mit.edu	GRCh37	11	2939241	2939241	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01	TCGA-26-6174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312221.5:c.679G>A	p.Asp227Asn	p.D227N	ENST00000312221	NM_002555.5	227	Gac/Aac	0	A:0		1			A	D/N	uc001lwx.2	protein_coding		CCDS7740.1			679/1275									central_nervous_system(2)|ovary(1)	3	c.(679-681)GAC>AAC			Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR24002,Superfamily_domains:SSF103473	tumor suppressing subtransferable candidate 5			A:0.0001	ENSP00000311139		11-Jul	2.47E-05		0.000176			1.55E-05			rs368091563,COSM3397627	11-Jul	.		ENST00000312221	Transcript	1		excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding	ENSG00000110628	g.chr11:2939241G>A	10964			MODERATE		0.835	low	getma.org/?cm=msa&ty=f&p=S22AI_HUMAN&rb=26&re=343&var=D227N	NA	getma.org/?cm=var&var=hg19,11,2939241,G,A&fts=all	D227N	--	--	1																																		SLC22A18_uc001lwy.2_Missense_Mutation_p.D227N|SLC22A18_uc001lwz.2_Missense_Mutation_p.D129N	0,1			benign(0.055)	p.D227N	NM_183233	NP_899056		tolerated(0.36)	0,1	S22AI_HUMAN	SLC22A18	HGNC	Q96BI1	S22AI_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)	Q69YM4_HUMAN,E9PMN7_HUMAN		7	897	+		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)	UPI0000070F3F	227	D -> E (in Ref. 4; AAB82727 and 6; AAC23505).				SNV	SLC22A18,missense_variant,p.Asp227Asn,ENST00000380574,;SLC22A18,missense_variant,p.Asp227Asn,ENST00000312221,NM_002555.5;SLC22A18,missense_variant,p.Asp227Asn,ENST00000347936,NM_183233.2;SLC22A18,missense_variant,p.Asp129Asn,ENST00000449793,;SLC22A18,non_coding_transcript_exon_variant,,ENST00000441077,;SLC22A18,non_coding_transcript_exon_variant,,ENST00000498209,;SLC22A18,non_coding_transcript_exon_variant,,ENST00000449603,;SLC22A18,downstream_gene_variant,,ENST00000492567,;SLC22A18,non_coding_transcript_exon_variant,,ENST00000467719,;SLC22A18,non_coding_transcript_exon_variant,,ENST00000463571,;SLC22A18,upstream_gene_variant,,ENST00000495518,;	uc001lwx.2	c.679G>A	983/1628	2	2			c.679G>A						11	SNP	c.(679-681)GAC>AAC	41	41			central_nervous_system(2)|ovary(1)	3	Broad	tumor suppressing subtransferable candidate 5			2939241		0.672	ENSG00000110628	14225	g.chr11:2939241G>A	excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding							2.004859	KEEP	1	2	-1	16	15	1	2	-1	6.54495	16	15	0.103448	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC22A18_uc001lwy.2_Missense_Mutation_p.D227N|SLC22A18_uc001lwz.2_Missense_Mutation_p.D129N	188	GBM-26-6174-TP	p.D227N	G	CAGTGTGTTCGACCTGAAGGC	NM_183233	NP_899056	2939241	Q96BI1	S22AI_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)	7	897	+	A	A		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)	Missense_Mutation	227	D -> E (in Ref. 4; AAB82727 and 6; AAC23505).					
SLC22A2	6582	broad.mit.edu	GRCh37	6	160679423	160679423	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01	TCGA-06-0173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366953.3:c.367C>T	p.Arg123Trp	p.R123W	ENST00000366953	NM_003058.3	123	Cgg/Tgg	0			1			A	R/W	uc003qtf.2	protein_coding	YES	CCDS5276.1			367/1668									breast(1)|skin(1)	2	c.(367-369)CGG>TGG			PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF173,TIGRFAM_domain:TIGR00898	solute carrier family 22 member 2				ENSP00000355920		11-Jan									COSM2150406	11-Jan	.		ENST00000366953	Transcript			body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	ENSG00000112499	g.chr6:160679423G>A	10966			MODERATE		2.11	medium	getma.org/?cm=msa&ty=f&p=S22A2_HUMAN&rb=60&re=529&var=R123W	NA	getma.org/?cm=var&var=hg19,6,160679423,G,A&fts=all	R123W	--	--	1																																		SLC22A2_uc003qte.1_Missense_Mutation_p.R123W|SLC22A2_uc003qth.1_Missense_Mutation_p.R123W	1	1		possibly_damaging(0.846)	p.R123W	NM_003058	NP_003049		deleterious(0.05)	1	S22A2_HUMAN	SLC22A2	HGNC	O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Q5T7Q5_HUMAN		1	537	-		Breast(66;0.000776)|Ovarian(120;0.0303)	UPI000013D5BB	123			Extracellular (Potential).		SNV	SLC22A2,missense_variant,p.Arg102Trp,ENST00000366952,;SLC22A2,missense_variant,p.Arg123Trp,ENST00000366953,NM_003058.3;SLC22A2,non_coding_transcript_exon_variant,,ENST00000491092,;SLC22A2,non_coding_transcript_exon_variant,,ENST00000489644,;	uc003qtf.2	c.367C>T	626/2597	2	2			c.367C>T						6	SNP	c.(367-369)CGG>TGG	24	24			breast(1)|skin(1)	2	Broad	solute carrier family 22 member 2			160679423		0.627	ENSG00000112499	14226	g.chr6:160679423G>A	body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity							173.83953	KEEP	47	40	-1	46	58	47	40	-1	173.95953	46	58	0.465517	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC22A2_uc003qte.1_Missense_Mutation_p.R123W|SLC22A2_uc003qth.1_Missense_Mutation_p.R123W	36	GBM-06-0173-TP	p.R123W	G	CAGCCGTCCCGGCAGGGGCCC	NM_003058	NP_003049	160679423	O15244	S22A2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	1	537	-	A	A		Breast(66;0.000776)|Ovarian(120;0.0303)	Missense_Mutation	123			Extracellular (Potential).			
SLC22A20	0	broad.mit.edu	GRCh37	11	64981482	64981482	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A			TCGA-06-0882-01	TCGA-06-0882-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000525264.1:n.164C>A		p.*55*	ENST00000525264				0			1			A		uc010roc.1	protein_coding		CCDS44644.1			-/2145									central_nervous_system(1)	1	c.(133-135)CCC>ACC	2006			solute carrier family 22, member 20				ENSP00000279247											COSM3398042,COSM3398041		.		ENST00000279247	Transcript			ion transport	integral to membrane	transmembrane transporter activity	ENSG00000014216	g.chr11:64981482C>A	1476			MODIFIER								--	--	1																																		SLC22A20_uc010rob.1_Missense_Mutation_p.P45T	1,1				p.P45T	NM_001004326	NP_001004326			1,1	CAN1_HUMAN	CAPN1	HGNC	A6NK97	S22AK_HUMAN			E9PSA6_HUMAN,E9PQB3_HUMAN,E9PMC6_HUMAN,E9PLX0_HUMAN,E9PLC9_HUMAN,E9PJJ3_HUMAN,E9PJA6_HUMAN,E9PIA9_HUMAN		1	136	+			UPI0000000E05	45			Extracellular (Potential).		SNV	CAPN1,downstream_gene_variant,,ENST00000527323,;CAPN1,downstream_gene_variant,,ENST00000533820,NM_001198868.1;CAPN1,downstream_gene_variant,,ENST00000279247,NM_005186.3;CAPN1,downstream_gene_variant,,ENST00000524773,NM_001198869.1;CAPN1,downstream_gene_variant,,ENST00000533129,;SLC22A20,non_coding_transcript_exon_variant,,ENST00000525437,;SLC22A20,non_coding_transcript_exon_variant,,ENST00000529062,;SLC22A20,non_coding_transcript_exon_variant,,ENST00000525264,;CAPN1,downstream_gene_variant,,ENST00000528165,;CAPN1,downstream_gene_variant,,ENST00000530567,;CAPN1,downstream_gene_variant,,ENST00000533704,;CAPN1,downstream_gene_variant,,ENST00000525013,;SLC22A20,non_coding_transcript_exon_variant,,ENST00000454680,;SLC22A20,non_coding_transcript_exon_variant,,ENST00000530038,;	uc010roc.1	c.133C>A	-/3007	2	2			c.133C>A						11	SNP	c.(133-135)CCC>ACC	25	25			central_nervous_system(1)	1	Broad	solute carrier family 22, member 20			64981482		0.692	ENSG00000014216	14227	g.chr11:64981482C>A	ion transport	integral to membrane	transmembrane transporter activity							6.214778	KEEP	3	2	0.4	8	2	3	2	0.4	6.327299	8	2	0.375	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC22A20_uc010rob.1_Missense_Mutation_p.P45T	77	GBM-06-0882-TP	p.P45T	C	GGCCGCTGTCCCCCCCCACCA	NM_001004326	NP_001004326	64981482	A6NK97	S22AK_HUMAN	0			1	136	+	A	A			Missense_Mutation	45			Extracellular (Potential).			
SLC22A25	387601	broad.mit.edu	GRCh37	11	62995959	62995959	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0129-01	TCGA-06-0129-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306494.6:c.480C>T	p.Gly160=	p.G160=	ENST00000306494	NM_199352.3	160	ggC/ggT	0			1			A	G	uc001nwr.1	protein_coding	YES	CCDS31592.1			480/1644									ovary(3)|skin(1)	4	c.(478-480)GGC>GGT			PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF185,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	putative UST1-like organic anion transporter				ENSP00000307443		9-Feb									COSM2149503	9-Feb	.		ENST00000306494	Transcript			transmembrane transport	integral to membrane		ENSG00000196600	g.chr11:62995959G>A	32935			LOW								--	--	1																																		SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_Intron|SLC22A25_uc001nwt.1_Silent_p.G160G	1	1			p.G160G	NM_199352	NP_955384			1	S22AP_HUMAN	SLC22A25	HGNC	Q6T423	S22AP_HUMAN					2	480	-			UPI00001A72A5	160			Helical; Name=2; (Potential).		SNV	SLC22A25,synonymous_variant,p.=,ENST00000306494,NM_199352.3;SLC22A25,5_prime_UTR_variant,,ENST00000403374,;SLC22A10,intron_variant,,ENST00000535888,;SLC22A10,intron_variant,,ENST00000525620,;SLC22A25,synonymous_variant,p.=,ENST00000528239,;SLC22A25,synonymous_variant,p.=,ENST00000527057,;SLC22A25,intron_variant,,ENST00000525295,;	uc001nwr.1	c.480C>T	480/1692	2	2			c.480C>T						11	SNP	c.(478-480)GGC>GGT	34	34			ovary(3)|skin(1)	4	Broad	putative UST1-like organic anion transporter			62995959		0.408	ENSG00000196600	14229	g.chr11:62995959G>A	transmembrane transport	integral to membrane								94.899956	KEEP	21	12	-1	18	22	21	12	-1	95.010677	18	22	0.457143	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_Intron|SLC22A25_uc001nwt.1_Silent_p.G160G	15	GBM-06-0129-TP	p.G160G	G	CATATAGGTTGCCTCCCACCA	NM_199352	NP_955384	62995959	Q6T423	S22AP_HUMAN	0			2	480	-	A	A			Silent	160			Helical; Name=2; (Potential).			
SLC22A25	0	broad.mit.edu	GRCh37	11	62985164	62985164	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6698-01	TCGA-06-6698-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306494.6:c.550G>A	p.Ala184Thr	p.A184T	ENST00000306494	NM_199352.3	184	Gcc/Acc	0			1			T	A/T	uc001nwr.1	protein_coding	YES	CCDS31592.1			550/1644									ovary(3)|skin(1)	4	c.(550-552)GCC>ACC			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF185,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	putative UST1-like organic anion transporter				ENSP00000307443		9-Mar	0.000132		0.000176			0.000166		0.000184	rs201370159,COSM3398005	9-Mar	.		ENST00000306494	Transcript		G:0.0004	transmembrane transport	integral to membrane		ENSG00000196600	g.chr11:62985164C>T	32935			MODERATE		2.165	medium	getma.org/?cm=msa&ty=f&p=S22AP_HUMAN&rb=141&re=484&var=A184T	NA	getma.org/?cm=var&var=hg19,11,62985164,C,T&fts=all	A184T	--	--	1																																		SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_Intron|SLC22A25_uc001nwt.1_Missense_Mutation_p.A184T	0,1	1		possibly_damaging(0.867)	p.A184T	NM_199352	NP_955384		deleterious(0.05)	0,1	S22AP_HUMAN	SLC22A25	HGNC	Q6T423	S22AP_HUMAN					3	550	-			UPI00001A72A5	184			Helical; Name=3; (Potential).		SNV	SLC22A25,missense_variant,p.Ala18Thr,ENST00000403374,;SLC22A25,missense_variant,p.Ala184Thr,ENST00000306494,NM_199352.3;SLC22A10,intron_variant,,ENST00000535888,;SLC22A10,intron_variant,,ENST00000525620,;SLC22A25,missense_variant,p.Ala183Thr,ENST00000527057,;SLC22A25,3_prime_UTR_variant,,ENST00000528239,;SLC22A25,intron_variant,,ENST00000525295,;	uc001nwr.1	c.550G>A	550/1692	2	2			c.550G>A						11	SNP	c.(550-552)GCC>ACC	42	42			ovary(3)|skin(1)	4	Broad	putative UST1-like organic anion transporter			62985164		0.488	ENSG00000196600	14229	g.chr11:62985164C>T	transmembrane transport	integral to membrane								138.403039	KEEP	28	27	-1	9	15	28	27	-1	140.77822	9	15	0.703125	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_Intron|SLC22A25_uc001nwt.1_Missense_Mutation_p.A184T	112	GBM-06-6698-TP	p.A184T	C	CCTACAATGGCGAGCTGGAGG	NM_199352	NP_955384	62985164	Q6T423	S22AP_HUMAN	0			3	550	-	T	T			Missense_Mutation	184			Helical; Name=3; (Potential).			
SLC22A25	0	broad.mit.edu	GRCh37	11	62931319	62931319	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-4929-01	TCGA-76-4929-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306494.6:c.1621C>G	p.Pro541Ala	p.P541A	ENST00000306494	NM_199352.3	541	Cct/Gct	0			1			C	P/A	uc001nwr.1	protein_coding	YES	CCDS31592.1			1621/1644									ovary(3)|skin(1)	4	c.(1621-1623)CCT>GCT			hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF185	putative UST1-like organic anion transporter				ENSP00000307443		9-Sep									COSM3398004	9-Sep	.		ENST00000306494	Transcript			transmembrane transport	integral to membrane		ENSG00000196600	g.chr11:62931319G>C	32935			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=S22AP_HUMAN&rb=485&re=547&var=P541A	NA	getma.org/?cm=var&var=hg19,11,62931319,G,C&fts=all	P541A	--	--	1																																		SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_RNA	1	1		benign(0.031)	p.P541A	NM_199352	NP_955384		deleterious(0.03)	1	S22AP_HUMAN	SLC22A25	HGNC	Q6T423	S22AP_HUMAN					9	1621	-			UPI00001A72A5	541			Cytoplasmic (Potential).		SNV	SLC22A25,missense_variant,p.Pro541Ala,ENST00000306494,NM_199352.3;SLC22A10,intron_variant,,ENST00000535888,;SLC22A25,downstream_gene_variant,,ENST00000403374,;SLC22A10,intron_variant,,ENST00000525620,;SLC22A25,3_prime_UTR_variant,,ENST00000528239,;SLC22A25,3_prime_UTR_variant,,ENST00000527057,;SLC22A25,3_prime_UTR_variant,,ENST00000525295,;	uc001nwr.1	c.1621C>G	1621/1692	3	3			c.1621C>G						11	SNP	c.(1621-1623)CCT>GCT	9	9			ovary(3)|skin(1)	4	Broad	putative UST1-like organic anion transporter			62931319		0.507	ENSG00000196600	14229	g.chr11:62931319G>C	transmembrane transport	integral to membrane								-60.56497	KEEP	4	6	-1	164	161	4	6	-1	13.509672	164	161	0.026756	1	0	0	0	0	1	0	0	0	--	--		0	C			SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_RNA	269	GBM-76-4929-TP	p.P541A	G	CTCCTCTGAGGGGCAGCTAGG	NM_199352	NP_955384	62931319	Q6T423	S22AP_HUMAN	0			9	1621	-	C	C			Missense_Mutation	541			Cytoplasmic (Potential).			
SLC22A3	0	broad.mit.edu	GRCh37	6	160828117	160828117	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6700-01	TCGA-06-6700-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275300.2:c.578G>A	p.Gly193Asp	p.G193D	ENST00000275300	NM_021977.3	193	gGc/gAc	0			1			A	G/D	uc003qti.2	protein_coding	YES	CCDS5277.1			578/1671									skin(2)|ovary(1)|central_nervous_system(1)	4	c.(577-579)GGC>GAC			Superfamily_domains:SSF103473,Pfam_domain:PF07690,TIGRFAM_domain:TIGR00898,Gene3D:1.20.1250.20,hmmpanther:PTHR24064:SF52,hmmpanther:PTHR24064,PROSITE_profiles:PS50850,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	solute carrier family 22 member 3				ENSP00000275300		11-Mar									COSM3410754	11-Mar	.		ENST00000275300	Transcript				integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	ENSG00000146477	g.chr6:160828117G>A	10967			MODERATE		2.56	medium	getma.org/?cm=msa&ty=f&p=S22A3_HUMAN&rb=149&re=485&var=G193D	NA	getma.org/?cm=var&var=hg19,6,160828117,G,A&fts=all	G193D	--	--	1																																		SLC22A3_uc011efx.1_RNA	1	1		probably_damaging(1)	p.G193D	NM_021977	NP_068812		deleterious(0)	1	S22A3_HUMAN	SLC22A3	HGNC	O75751	S22A3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Q9NQC0_HUMAN		3	605	+		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)	UPI0000130BB7	193			Helical; (Potential).		SNV	SLC22A3,missense_variant,p.Gly193Asp,ENST00000392145,;SLC22A3,missense_variant,p.Gly193Asp,ENST00000275300,NM_021977.3;AL591069.1,downstream_gene_variant,,ENST00000541740,;	uc003qti.2	c.578G>A	730/3348	2	2			c.578G>A						6	SNP	c.(577-579)GGC>GAC	22	22			skin(2)|ovary(1)|central_nervous_system(1)	4	Broad	solute carrier family 22 member 3			160828117		0.473	ENSG00000146477	14230	g.chr6:160828117G>A		integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			170			170	47.881961	KEEP	14	11	-1	47	61	14	11	-1	58.305469	47	61	0.196721	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC22A3_uc011efx.1_RNA	114	GBM-06-6700-TP	p.G193D	G	CTTGGTGTTGGCGTCACTGGG	NM_021977	NP_068812	160828117	O75751	S22A3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	3	605	+	A	A		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)	Missense_Mutation	193			Helical; (Potential).			
SLC22A4	6583	broad.mit.edu	GRCh37	5	131676327	131676327	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-06-5412-01	TCGA-06-5412-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000200652.3:c.1520del	p.Phe507SerfsTer7	p.F507Sfs*7	ENST00000200652	NM_003059.2	505	cTt/ct	0			1			-	L/X	uc003kwq.2	protein_coding	YES	CCDS4153.1			1514/1656										0	c.(1513-1515)CTTfs			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24064:SF5,hmmpanther:PTHR24064,Pfam_domain:PF00083,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00898,Superfamily_domains:SSF103473	solute carrier family 22 member 4	L-Carnitine(DB00583)			ENSP00000200652		10-Sep	8.24E-06				0.000151				rs770747109,COSM1433027	10-Sep	.		ENST00000200652	Transcript	1		body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	ENSG00000197208	g.chr5:131676327delT	10968	6		HIGH								--	--	1																																		uc003kwr.3_Intron	0,1	1			p.L505fs	NM_003059	NP_003050			0,1	S22A4_HUMAN	SLC22A4	HGNC	Q9H015	S22A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		D9N2T6_HUMAN		9	1679	+		all_cancers(142;0.0752)|Breast(839;0.198)	UPI000006DAB7	505			Helical; Name=12; (Potential).		deletion	SLC22A4,frameshift_variant,p.Phe507SerfsTer7,ENST00000200652,NM_003059.2;AC034220.3,intron_variant,,ENST00000417795,;AC034220.3,intron_variant,,ENST00000437091,;	uc003kwq.2	c.1514delT	1688/2201	5	5			c.1514delT						5	DEL	c.(1513-1515)CTTfs	45	45				0	Broad	solute carrier family 22 member 4		L-Carnitine(DB00583)	131676327		0.418	ENSG00000197208	14231	g.chr5:131676327delT	body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity																				0.04	1	1	0	1	0	0	0	0	0	--	--		0	-			uc003kwr.3_Intron	95	GBM-06-5412-TP	p.L505fs	T	ATCCTCACCCTTTTTTTCCCT	NM_003059	NP_003050	131676327	Q9H015	S22A4_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1679	+	-	-		all_cancers(142;0.0752)|Breast(839;0.198)	Frame_Shift_Del	505			Helical; Name=12; (Potential).			
SLC22A5	6584	broad.mit.edu	GRCh37	5	131728210	131728210	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0188-01	TCGA-06-0188-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245407.3:c.1353C>T	p.Ala451=	p.A451=	ENST00000245407	NM_003060.3	451	gcC/gcT	0	T:0		1			T	A	uc003kww.3	protein_coding	YES	CCDS4154.1			1353/1674										0	c.(1351-1353)GCC>GCT			Superfamily_domains:SSF103473,Gene3D:1.20.1250.20,Pfam_domain:PF00083,TIGRFAM_domain:TIGR00898,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF5,PROSITE_profiles:PS50850	solute carrier family 22 member 5	L-Carnitine(DB00583)		T:0.0001	ENSP00000245407		10-Aug	7.41E-05					8.99E-05		0.000182	rs374662740,COSM3409723,COSM3409724	10-Aug	.		ENST00000245407	Transcript	1		positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	ENSG00000197375	g.chr5:131728210C>T	10969			LOW								--	--	1																																		SLC22A5_uc003kwx.3_Silent_p.A475A|SLC22A5_uc010jdr.1_Silent_p.A71A	0,1,1	1			p.A451A	NM_003060	NP_003051			0,1,1	S22A5_HUMAN	SLC22A5	HGNC	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)				8	1617	+		all_cancers(142;0.0751)|Breast(839;0.198)	UPI0000130BB6	451			Helical; Name=10; (Potential).		SNV	SLC22A5,synonymous_variant,p.=,ENST00000245407,NM_003060.3;SLC22A5,synonymous_variant,p.=,ENST00000435065,;SLC22A5,non_coding_transcript_exon_variant,,ENST00000479605,;SLC22A5,3_prime_UTR_variant,,ENST00000447841,;SLC22A5,3_prime_UTR_variant,,ENST00000448810,;SLC22A5,non_coding_transcript_exon_variant,,ENST00000461013,;SLC22A5,non_coding_transcript_exon_variant,,ENST00000475308,;SLC22A5,downstream_gene_variant,,ENST00000437841,;	uc003kww.3	c.1353C>T	1574/3237	2	2			c.1353C>T						5	SNP	c.(1351-1353)GCC>GCT	32	32				0	Broad	solute carrier family 22 member 5		L-Carnitine(DB00583)	131728210		0.532	ENSG00000197375	14232	g.chr5:131728210C>T	positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity							35.140943	KEEP	14	9	-1	80	87	14	9	-1	56.790701	80	87	0.136095	1	0	0	0	0	0	0	1	0	--	--		0	T			SLC22A5_uc003kwx.3_Silent_p.A475A|SLC22A5_uc010jdr.1_Silent_p.A71A	41	GBM-06-0188-TP	p.A451A	C	TGTACACAGCCGAGCTGTATC	NM_003060	NP_003051	131728210	O76082	S22A5_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		8	1617	+	T	T		all_cancers(142;0.0751)|Breast(839;0.198)	Silent	451			Helical; Name=10; (Potential).			
SLC22A5	0	broad.mit.edu	GRCh37	5	131729366	131729366	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G			TCGA-27-1830-01	TCGA-27-1830-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245407.3:c.1451-2A>G		p.X484_splice	ENST00000245407	NM_003060.3			0			1			G		uc003kww.3	protein_coding	YES	CCDS4154.1			1451/1674										0	c.e9-2				solute carrier family 22 member 5	L-Carnitine(DB00583)			ENSP00000245407											COSM3409725,COSM3409726		.		ENST00000245407	Transcript	1		positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	ENSG00000197375	g.chr5:131729366A>G	10969			HIGH	9-Aug							--	--	1																																		SLC22A5_uc003kwx.3_Splice_Site_p.G508_splice|SLC22A5_uc010jdr.1_Splice_Site_p.G104_splice	1,1	1			p.G484_splice	NM_003060	NP_003051			1,1	S22A5_HUMAN	SLC22A5	HGNC	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)				9	1715	+		all_cancers(142;0.0751)|Breast(839;0.198)	UPI0000130BB6						SNV	SLC22A5,splice_acceptor_variant,,ENST00000245407,NM_003060.3;SLC22A5,splice_acceptor_variant,,ENST00000435065,;SLC22A5,splice_acceptor_variant,,ENST00000479605,;SLC22A5,splice_acceptor_variant,,ENST00000461013,;SLC22A5,splice_acceptor_variant,,ENST00000475308,;SLC22A5,splice_acceptor_variant,,ENST00000447841,;SLC22A5,splice_acceptor_variant,,ENST00000448810,;SLC22A5,downstream_gene_variant,,ENST00000437841,;	uc003kww.3	c.1451_splice	-/3237	5	3			c.1451_splice						5	SNP	c.e9-2	6	6				0	Broad	solute carrier family 22 member 5		L-Carnitine(DB00583)	131729366		0.562	ENSG00000197375	14232	g.chr5:131729366A>G	positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity							-100.250754	KEEP	4	2	-1	226	212	4	2	-1	10.481618	226	212	0.012285	1	0	0	0	0	0	0	0	1	--	--		0	G			SLC22A5_uc003kwx.3_Splice_Site_p.G508_splice|SLC22A5_uc010jdr.1_Splice_Site_p.G104_splice	189	GBM-27-1830-TP	p.G484_splice	A	GCTTTGCCATAGGTGCCTACG	NM_003060	NP_003051	131729366	O76082	S22A5_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1715	+	G	G		all_cancers(142;0.0751)|Breast(839;0.198)	Splice_Site							
SLC22A5	0	broad.mit.edu	GRCh37	5	131729923	131729923	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-28-5209-01	TCGA-28-5209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245407.3:c.1633G>T	p.Gly545Cys	p.G545C	ENST00000245407	NM_003060.3	545	Ggt/Tgt	0			1			T	G/C	uc003kww.3	protein_coding	YES	CCDS4154.1			1633/1674										0	c.(1633-1635)GGT>TGT			hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF5	solute carrier family 22 member 5	L-Carnitine(DB00583)			ENSP00000245407		10-Oct									COSM3409727,COSM3409728	10-Oct	.		ENST00000245407	Transcript	1		positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	ENSG00000197375	g.chr5:131729923G>T	10969			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=S22A5_HUMAN&rb=524&re=557&var=G545C	NA	getma.org/?cm=var&var=hg19,5,131729923,G,T&fts=all	G545C	--	--	1																																		SLC22A5_uc003kwx.3_Missense_Mutation_p.G569C	1,1	1		benign(0.246)	p.G545C	NM_003060	NP_003051		deleterious(0.03)	1,1	S22A5_HUMAN	SLC22A5	HGNC	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)				10	1897	+		all_cancers(142;0.0751)|Breast(839;0.198)	UPI0000130BB6	545					SNV	SLC22A5,missense_variant,p.Gly545Cys,ENST00000245407,NM_003060.3;SLC22A5,missense_variant,p.Gly569Cys,ENST00000435065,;SLC22A5,downstream_gene_variant,,ENST00000479605,;SLC22A5,3_prime_UTR_variant,,ENST00000447841,;SLC22A5,non_coding_transcript_exon_variant,,ENST00000461013,;SLC22A5,non_coding_transcript_exon_variant,,ENST00000475308,;SLC22A5,downstream_gene_variant,,ENST00000448810,;	uc003kww.3	c.1633G>T	1854/3237	1	1			c.1633G>T						5	SNP	c.(1633-1635)GGT>TGT	2	2				0	Broad	solute carrier family 22 member 5		L-Carnitine(DB00583)	131729923		0.393	ENSG00000197375	14232	g.chr5:131729923G>T	positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity							222.050866	KEEP	41	42	0.493975904	55	58	41	42	0.493975904	222.847041	55	58	0.426901	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC22A5_uc003kwx.3_Missense_Mutation_p.G569C	218	GBM-28-5209-TP	p.G545C	G	GTTAAAAGATGGTCAAGAAAG	NM_003060	NP_003051	131729923	O76082	S22A5_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		10	1897	+	T	T		all_cancers(142;0.0751)|Breast(839;0.198)	Missense_Mutation	545						
SLC22A6	0	broad.mit.edu	GRCh37	11	62749352	62749352	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-12-0688-01	TCGA-12-0688-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377871.3:c.759G>T	p.Leu253=	p.L253=	ENST00000377871	NM_153278.2	253	ctG/ctT	0			1			A	L	uc001nwk.2	protein_coding	YES	CCDS31591.1			759/1692										0	c.(757-759)CTG>CTT			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24064:SF205,hmmpanther:PTHR24064,Pfam_domain:PF00083,TIGRFAM_domain:TIGR00898,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	solute carrier family 22 member 6 isoform a				ENSP00000367102		10-Apr									COSM3398003	10-Apr	.		ENST00000377871	Transcript			alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	ENSG00000197901	g.chr11:62749352C>A	10970			LOW								--	--	1																																		SLC22A6_uc001nwl.2_Silent_p.L253L|SLC22A6_uc001nwj.2_Silent_p.L253L|SLC22A6_uc001nwm.2_Silent_p.L253L	1	1			p.L253L	NM_004790	NP_004781			1	S22A6_HUMAN	SLC22A6	HGNC	Q4U2R8	S22A6_HUMAN					4	1066	-			UPI00000747EC	253			Helical; (Potential).		SNV	SLC22A6,synonymous_variant,p.=,ENST00000377871,NM_153278.2,NM_004790.4;SLC22A6,synonymous_variant,p.=,ENST00000360421,NM_153277.2,NM_153276.2;SLC22A6,synonymous_variant,p.=,ENST00000421062,;SLC22A6,synonymous_variant,p.=,ENST00000458333,;SLC22A6,non_coding_transcript_exon_variant,,ENST00000537349,;SLC22A6,missense_variant,p.Gly246Cys,ENST00000540654,;	uc001nwk.2	c.759G>T	1026/2151	1	1			c.759G>T						11	SNP	c.(757-759)CTG>CTT	56	56				0	Broad	solute carrier family 22 member 6 isoform a			62749352		0.617	ENSG00000197901	14233	g.chr11:62749352C>A	alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding							-1.108902	KEEP	2	1	0.333333333	18	26	2	1	0.333333333	6.306877	18	26	0.075	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC22A6_uc001nwl.2_Silent_p.L253L|SLC22A6_uc001nwj.2_Silent_p.L253L|SLC22A6_uc001nwm.2_Silent_p.L253L	121	GBM-12-0688-TP	p.L253L	C	GCGCAGAGACCAGTAGCTGCA	NM_004790	NP_004781	62749352	Q4U2R8	S22A6_HUMAN	0			4	1066	-	A	A			Silent	253			Helical; (Potential).			
SLC22A7	10864	broad.mit.edu	GRCh37	6	43267438	43267438	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01	TCGA-06-0743-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372585.5:c.577G>A	p.Val193Ile	p.V193I	ENST00000372585	NM_153320.2	193	Gtc/Atc	0			1			A	V/I	uc003out.2	protein_coding	YES	CCDS4893.2			577/1647										0	c.(577-579)GTC>ATC			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF33,Pfam_domain:PF07690,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00898,Superfamily_domains:SSF103473	solute carrier family 22 member 7 isoform b				ENSP00000361666		11-Apr	8.24E-06		8.64E-05						rs750816224,COSM3411116,COSM3411117,COSM3411118,COSM3411119	11-Apr	.		ENST00000372585	Transcript				basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	ENSG00000137204	g.chr6:43267438G>A	10971			MODERATE		1.205	low	getma.org/?cm=msa&ty=f&p=S22A7_HUMAN&rb=75&re=481&var=V193I	NA	getma.org/?cm=var&var=hg19,6,43267438,G,A&fts=all	V193I	--	--	1																																		SLC22A7_uc010jyl.1_Missense_Mutation_p.V191I|SLC22A7_uc003ous.2_Missense_Mutation_p.V191I	0,1,1,1,1	1		benign(0.034)	p.V193I	NM_153320	NP_696961		tolerated(0.15)	0,1,1,1,1	S22A7_HUMAN	SLC22A7	HGNC	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)				4	676	+			UPI000006F307	193			Helical; (Potential).		SNV	SLC22A7,missense_variant,p.Val193Ile,ENST00000372585,NM_153320.2;SLC22A7,missense_variant,p.Val191Ile,ENST00000372589,NM_006672.3;SLC22A7,missense_variant,p.Val191Ile,ENST00000372574,;SLC22A7,missense_variant,p.Val252Ile,ENST00000449231,;SLC22A7,missense_variant,p.Val62Ile,ENST00000451757,;SLC22A7,upstream_gene_variant,,ENST00000436107,;CRIP3,downstream_gene_variant,,ENST00000416431,;SLC22A7,non_coding_transcript_exon_variant,,ENST00000487175,;SLC22A7,downstream_gene_variant,,ENST00000480882,;SLC22A7,3_prime_UTR_variant,,ENST00000498232,;	uc003out.2	c.577G>A	672/2555	1	1			c.577G>A						6	SNP	c.(577-579)GTC>ATC	52	52				0	Broad	solute carrier family 22 member 7 isoform b			43267438		0.587	ENSG00000137204	14234	g.chr6:43267438G>A		basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity							232.399085	KEEP	41	40	-1	59	52	41	40	-1	233.035363	59	52	0.436464	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC22A7_uc010jyl.1_Missense_Mutation_p.V191I|SLC22A7_uc003ous.2_Missense_Mutation_p.V191I	65	GBM-06-0743-TP	p.V193I	G	TGCAGCCTCCGTCAGCTATGT	NM_153320	NP_696961	43267438	Q9Y694	S22A7_HUMAN	0	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		4	676	+	A	A			Missense_Mutation	193			Helical; (Potential).			
SLC22A8	9376	broad.mit.edu	GRCh37	11	62767306	62767306	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01	TCGA-06-0744-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336232.2:c.446G>A	p.Arg149His	p.R149H	ENST00000336232	NM_001184736.1	149	cGc/cAc	0			1			T	R/H	uc001nwo.2	protein_coding	YES	CCDS8042.1			446/1629									skin(2)|ovary(1)	3	c.(445-447)CGC>CAC			Superfamily_domains:SSF103473,Pfam_domain:PF00083,TIGRFAM_domain:TIGR00898,Gene3D:1.20.1250.20,PROSITE_patterns:PS00216,hmmpanther:PTHR24064:SF34,hmmpanther:PTHR24064,PROSITE_profiles:PS50850	solute carrier family 22 member 8				ENSP00000337335		11-Apr									COSM1298342	11-Apr	.		ENST00000336232	Transcript			response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	ENSG00000149452	g.chr11:62767306C>T	10972			MODERATE		3.93	high	getma.org/?cm=msa&ty=f&p=S22A8_HUMAN&rb=86&re=507&var=R149H	NA	getma.org/?cm=var&var=hg19,11,62767306,C,T&fts=all	R149H	--	--	1																																		SLC22A8_uc001nwn.1_5'Flank|SLC22A8_uc001nwp.2_Missense_Mutation_p.R149H|SLC22A8_uc009yom.2_Missense_Mutation_p.R26H|SLC22A8_uc010rmm.1_Missense_Mutation_p.R58H|SLC22A8_uc009yon.2_Missense_Mutation_p.R149H	1	1		probably_damaging(1)	p.R149H	NM_004254	NP_004245		deleterious(0)	1	S22A8_HUMAN	SLC22A8	HGNC	Q8TCC7	S22A8_HUMAN					4	582	-			UPI0000036DF2	149			Cytoplasmic (Potential).		SNV	SLC22A8,missense_variant,p.Arg149His,ENST00000336232,NM_001184736.1,NM_001184732.1,NM_004254.3;SLC22A8,missense_variant,p.Arg149His,ENST00000430500,;SLC22A8,missense_variant,p.Arg149His,ENST00000311438,;SLC22A8,missense_variant,p.Arg58His,ENST00000545207,NM_001184733.1;SLC22A8,missense_variant,p.Arg26His,ENST00000535878,;SLC22A8,non_coding_transcript_exon_variant,,ENST00000542795,;SLC22A8,non_coding_transcript_exon_variant,,ENST00000542904,;SLC22A8,upstream_gene_variant,,ENST00000539841,;SLC22A8,upstream_gene_variant,,ENST00000451262,;	uc001nwo.2	c.446G>A	582/2178	2	2			c.446G>A						11	SNP	c.(445-447)CGC>CAC	47	47			skin(2)|ovary(1)	3	Broad	solute carrier family 22 member 8			62767306		0.627	ENSG00000149452	14235	g.chr11:62767306C>T	response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity							44.852049	KEEP	14	11	-1	25	10	14	11	-1	44.859325	25	10	0.482759	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC22A8_uc001nwn.1_5'Flank|SLC22A8_uc001nwp.2_Missense_Mutation_p.R149H|SLC22A8_uc009yom.2_Missense_Mutation_p.R26H|SLC22A8_uc010rmm.1_Missense_Mutation_p.R58H|SLC22A8_uc009yon.2_Missense_Mutation_p.R149H	66	GBM-06-0744-TP	p.R149H	C	GATGGGCCTGCGGCCAAACCT	NM_004254	NP_004245	62767306	Q8TCC7	S22A8_HUMAN	0			4	582	-	T	T			Missense_Mutation	149			Cytoplasmic (Potential).			
SLC22A9	114571	broad.mit.edu	GRCh37	11	63149746	63149746	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs141060614		TCGA-06-0155-01	TCGA-06-0155-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000279178.3:c.1070C>T	p.Thr357Met	p.T357M	ENST00000279178	NM_080866.2	357	aCg/aTg	0	T:0.0005		1			T	T/M	uc001nww.2	protein_coding	YES	CCDS8043.1			1070/1662									breast(2)|large_intestine(1)	3	c.(1069-1071)ACG>ATG			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF217,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	solute carrier family 22 (organic anion/cation			T:0	ENSP00000279178		10-Jun	2.47E-05	9.61E-05				3.01E-05			rs141060614,COSM2150019	10-Jun	.		ENST00000279178	Transcript			transmembrane transport	integral to membrane		ENSG00000149742	g.chr11:63149746C>T	16261			MODERATE		-0.695	neutral	getma.org/?cm=msa&ty=f&p=S22A9_HUMAN&rb=126&re=485&var=T357M	NA	getma.org/?cm=var&var=hg19,11,63149746,C,T&fts=all	T357M	--	--	1																																		SLC22A9_uc001nwx.2_RNA	0,1	1		benign(0.041)	p.T357M	NM_080866	NP_543142		tolerated(0.26)	0,1	S22A9_HUMAN	SLC22A9	HGNC	Q8IVM8	S22A9_HUMAN			A4PB24_HUMAN		6	1338	+			UPI00000745FF	357			Helical; (Potential).		SNV	SLC22A9,missense_variant,p.Thr357Met,ENST00000279178,NM_080866.2;SLC22A9,3_prime_UTR_variant,,ENST00000310969,;SLC22A9,3_prime_UTR_variant,,ENST00000536333,;	uc001nww.2	c.1070C>T	1319/2343	1	1			c.1070C>T						11	SNP	c.(1069-1071)ACG>ATG	5	5			breast(2)|large_intestine(1)	3	Broad	solute carrier family 22 (organic anion/cation			63149746		0.403	ENSG00000149742	14236	g.chr11:63149746C>T	transmembrane transport	integral to membrane								290.395589	KEEP	56	55	-1	90	93	56	55	-1	293.476058	90	93	0.382812	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC22A9_uc001nwx.2_RNA	27	GBM-06-0155-TP	p.T357M	C	CTGTCCTTTACGAGGTAAGCT	NM_080866	NP_543142	63149746	Q8IVM8	S22A9_HUMAN	0			6	1338	+	T	T			Missense_Mutation	357			Helical; (Potential).			
SLC22A9	114571	broad.mit.edu	GRCh37	11	63174115	63174115	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01	TCGA-06-0173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000279178.3:c.1220G>A	p.Arg407Gln	p.R407Q	ENST00000279178	NM_080866.2	407	cGa/cAa	0			1			A	R/Q	uc001nww.2	protein_coding	YES	CCDS8043.1			1220/1662									breast(2)|large_intestine(1)	3	c.(1219-1221)CGA>CAA			PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF217,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	solute carrier family 22 (organic anion/cation				ENSP00000279178		10-Jul	8.24E-06		8.77E-05						rs760458545,COSM1704176	10-Jul	.		ENST00000279178	Transcript			transmembrane transport	integral to membrane		ENSG00000149742	g.chr11:63174115G>A	16261			MODERATE		2.45	medium	getma.org/?cm=msa&ty=f&p=S22A9_HUMAN&rb=126&re=485&var=R407Q	NA	getma.org/?cm=var&var=hg19,11,63174115,G,A&fts=all	R407Q	--	--	1																																		SLC22A9_uc001nwx.2_RNA	0,1	1		possibly_damaging(0.867)	p.R407Q	NM_080866	NP_543142		deleterious(0.05)	0,1	S22A9_HUMAN	SLC22A9	HGNC	Q8IVM8	S22A9_HUMAN			A4PB24_HUMAN		7	1488	+			UPI00000745FF	407			Cytoplasmic (Potential).		SNV	SLC22A9,missense_variant,p.Arg407Gln,ENST00000279178,NM_080866.2;SLC22A9,3_prime_UTR_variant,,ENST00000310969,;SLC22A9,3_prime_UTR_variant,,ENST00000536333,;	uc001nww.2	c.1220G>A	1469/2343	2	2			c.1220G>A						11	SNP	c.(1219-1221)CGA>CAA	20	20			breast(2)|large_intestine(1)	3	Broad	solute carrier family 22 (organic anion/cation			63174115		0.483	ENSG00000149742	14236	g.chr11:63174115G>A	transmembrane transport	integral to membrane								109.954227	KEEP	17	23	-1	31	29	17	23	-1	110.803584	31	29	0.397849	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC22A9_uc001nwx.2_RNA	36	GBM-06-0173-TP	p.R407Q	G	ATGAACCGTCGAGCAAGCCAG	NM_080866	NP_543142	63174115	Q8IVM8	S22A9_HUMAN	0			7	1488	+	A	A			Missense_Mutation	407			Cytoplasmic (Potential).			
SLC22A9	114571	broad.mit.edu	GRCh37	11	63174115	63174115	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01	TCGA-06-5408-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000279178.3:c.1220G>A	p.Arg407Gln	p.R407Q	ENST00000279178	NM_080866.2	407	cGa/cAa	0			1			A	R/Q	uc001nww.2	protein_coding	YES	CCDS8043.1			1220/1662									breast(2)|large_intestine(1)	3	c.(1219-1221)CGA>CAA			PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF217,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	solute carrier family 22 (organic anion/cation				ENSP00000279178		10-Jul	8.24E-06		8.77E-05						rs760458545,COSM1704176	10-Jul	.		ENST00000279178	Transcript			transmembrane transport	integral to membrane		ENSG00000149742	g.chr11:63174115G>A	16261			MODERATE		2.45	medium	getma.org/?cm=msa&ty=f&p=S22A9_HUMAN&rb=126&re=485&var=R407Q	NA	getma.org/?cm=var&var=hg19,11,63174115,G,A&fts=all	R407Q	--	--	1																																		SLC22A9_uc001nwx.2_RNA	0,1	1		possibly_damaging(0.867)	p.R407Q	NM_080866	NP_543142		deleterious(0.05)	0,1	S22A9_HUMAN	SLC22A9	HGNC	Q8IVM8	S22A9_HUMAN			A4PB24_HUMAN		7	1488	+			UPI00000745FF	407			Cytoplasmic (Potential).		SNV	SLC22A9,missense_variant,p.Arg407Gln,ENST00000279178,NM_080866.2;SLC22A9,3_prime_UTR_variant,,ENST00000310969,;SLC22A9,3_prime_UTR_variant,,ENST00000536333,;	uc001nww.2	c.1220G>A	1469/2343	2	2			c.1220G>A						11	SNP	c.(1219-1221)CGA>CAA	20	20			breast(2)|large_intestine(1)	3	Broad	solute carrier family 22 (organic anion/cation			63174115		0.483	ENSG00000149742	14236	g.chr11:63174115G>A	transmembrane transport	integral to membrane								91.537547	KEEP	12	19	-1	16	26	12	19	-1	91.743079	16	26	0.441176	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC22A9_uc001nwx.2_RNA	92	GBM-06-5408-TP	p.R407Q	G	ATGAACCGTCGAGCAAGCCAG	NM_080866	NP_543142	63174115	Q8IVM8	S22A9_HUMAN	0			7	1488	+	A	A			Missense_Mutation	407			Cytoplasmic (Potential).			
SLC22A9	114571		GRCh37	11	63137793	63137793	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000279178.3:c.265C>T	p.Arg89Cys	p.R89C	ENST00000279178	NM_080866.2	89	Cgt/Tgt	0																																																																																																																																																																																																																																												
SLC23A2	0	broad.mit.edu	GRCh37	20	4850569	4850569	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs138961929		TCGA-12-0821-01	TCGA-12-0821-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338244.1:c.1233delC	p.Ile412SerfsTer4	p.I412Sfs*4	ENST00000338244	NM_005116.5	411	ccC/cc	0			1			-	P/X	uc002wlg.1	protein_coding		CCDS13085.1			1233/1953									ovary(2)	2	c.(1231-1233)CCCfs			Pfam_domain:PF00860,hmmpanther:PTHR11119,hmmpanther:PTHR11119:SF33	solute carrier family 23 (nucleobase				ENSP00000344322		17-Dec									rs751050083,COSM253096	17-Dec	.		ENST00000338244	Transcript			L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	ENSG00000089057	g.chr20:4850569delG	10973			HIGH								--	--	1																																		SLC23A2_uc010zqr.1_Frame_Shift_Del_p.P296fs|SLC23A2_uc002wlh.1_Frame_Shift_Del_p.P411fs|SLC23A2_uc002wli.2_Frame_Shift_Del_p.P410fs	0,1				p.P411fs	NM_005116	NP_005107			0,1	S23A2_HUMAN	SLC23A2	HGNC	Q9UGH3	S23A2_HUMAN			Q4ZGM1_HUMAN		12	1608	-			UPI0000136292	411					deletion	SLC23A2,frameshift_variant,p.Ile412SerfsTer4,ENST00000379333,NM_203327.1;SLC23A2,frameshift_variant,p.Ile412SerfsTer4,ENST00000338244,NM_005116.5;SLC23A2,frameshift_variant,p.Ile298SerfsTer4,ENST00000424750,;SLC23A2,frameshift_variant,p.Ile169SerfsTer4,ENST00000423430,;SNORA31,downstream_gene_variant,,ENST00000516287,;SLC23A2,non_coding_transcript_exon_variant,,ENST00000468355,;SLC23A2,downstream_gene_variant,,ENST00000496331,;	uc002wlg.1	c.1233delC	1608/6944	5	5			c.1233delC						20	DEL	c.(1231-1233)CCCfs	61	61			ovary(2)	2	Broad	solute carrier family 23 (nucleobase			4850569		0.527	ENSG00000089057	14238	g.chr20:4850569delG	L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity																				0.02	1	1	0	1	0	0	0	0	0	--	--		0	-			SLC23A2_uc010zqr.1_Frame_Shift_Del_p.P296fs|SLC23A2_uc002wlh.1_Frame_Shift_Del_p.P411fs|SLC23A2_uc002wli.2_Frame_Shift_Del_p.P410fs	123	GBM-12-0821-TP	p.P411fs	G	TTGCGTGGATGGGGGGGGGTG	NM_005116	NP_005107	4850569	Q9UGH3	S23A2_HUMAN	0			12	1608	-	-	-			Frame_Shift_Del	411						
SLC24A1	0	broad.mit.edu	GRCh37	15	65918177	65918179	+	inframe_deletion	In_Frame_Del	DEL	CTG	CTG	-			TCGA-06-6695-01	TCGA-06-6695-01	CTG	CTG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261892.6:c.1771_1773delCTG	p.Leu591del	p.L591del	ENST00000261892	NM_004727.2	587	CTG/-	0	-:0.0245		1			-	L/-	uc010ujf.1	protein_coding	YES	CCDS45284.1			1759-1761/3300										0	c.(1759-1761)CTGdel			Pfam_domain:PF01699,hmmpanther:PTHR10846,hmmpanther:PTHR10846:SF6,Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR00367,TIGRFAM_domain:TIGR00927	solute carrier family 24			-:0.0287	ENSP00000261892		10-Feb	0.0137	0.0118	0.0241	0.0125	0.00739	0.0132	0.00808	0.0114	rs370680044	10-Feb	common_variant		ENST00000261892	Transcript	1		response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	ENSG00000074621	g.chr15:65918177_65918179delCTG	10975	12		MODERATE								--	--	1																																		SLC24A1_uc010ujd.1_In_Frame_Del_p.L591del|SLC24A1_uc010uje.1_In_Frame_Del_p.L591del|SLC24A1_uc010ujg.1_In_Frame_Del_p.L591del|SLC24A1_uc010ujh.1_In_Frame_Del_p.L591del		1			p.L591del	NM_004727	NP_004718				NCKX1_HUMAN	SLC24A1	HGNC	O60721	NCKX1_HUMAN					2	2046_2048	+			UPI000013020C	591			Helical; (Potential).		deletion	SLC24A1,inframe_deletion,p.Leu591del,ENST00000261892,NM_004727.2,NM_001254740.1;SLC24A1,inframe_deletion,p.Leu591del,ENST00000339868,NM_001254740.1;SLC24A1,inframe_deletion,p.Leu591del,ENST00000537259,;SLC24A1,inframe_deletion,p.Leu591del,ENST00000399033,;SLC24A1,inframe_deletion,p.Leu591del,ENST00000546330,;SLC24A1,inframe_deletion,p.Leu591del,ENST00000544319,;SLC24A1,non_coding_transcript_exon_variant,,ENST00000425561,;SLC24A1,downstream_gene_variant,,ENST00000535950,;SLC24A1,non_coding_transcript_exon_variant,,ENST00000434116,;	uc010ujf.1	c.1759_1761delCTG	2046-2048/5768	5	5			c.1759_1761delCTG						15	DEL	c.(1759-1761)CTGdel	24	24				0	Broad	solute carrier family 24			65918179		0.547	ENSG00000074621	14240	g.chr15:65918177_65918179delCTG	response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity																				0.05	1	1	0	1	0	0	0	0	0	--	--		0	-			SLC24A1_uc010ujd.1_In_Frame_Del_p.L591del|SLC24A1_uc010uje.1_In_Frame_Del_p.L591del|SLC24A1_uc010ujg.1_In_Frame_Del_p.L591del|SLC24A1_uc010ujh.1_In_Frame_Del_p.L591del	110	GBM-06-6695-TP	p.L591del	CTG	GTGGGAGAGCCTGCTGCTGCTGC	NM_004727	NP_004718	65918177	O60721	NCKX1_HUMAN	0			2	2046_2048	+	-	-			In_Frame_Del	591			Helical; (Potential).			
SLC24A1	0	broad.mit.edu	GRCh37	15	65917215	65917215	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-12-3652-01	TCGA-12-3652-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261892.6:c.797C>A	p.Ala266Glu	p.A266E	ENST00000261892	NM_004727.2	266	gCa/gAa	0			1			A	A/E	uc010ujf.1	protein_coding	YES	CCDS45284.1			797/3300										0	c.(796-798)GCA>GAA			hmmpanther:PTHR10846,hmmpanther:PTHR10846:SF6,TIGRFAM_domain:TIGR00927	solute carrier family 24				ENSP00000261892		10-Feb									COSM3747977	10-Feb	.		ENST00000261892	Transcript	1		response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	ENSG00000074621	g.chr15:65917215C>A	10975			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=NCKX1_HUMAN&rb=201&re=400&var=A266E	NA	getma.org/?cm=var&var=hg19,15,65917215,C,A&fts=all	A266E	--	--	1																																		SLC24A1_uc010ujd.1_Missense_Mutation_p.A266E|SLC24A1_uc010uje.1_Missense_Mutation_p.A266E|SLC24A1_uc010ujg.1_Missense_Mutation_p.A266E|SLC24A1_uc010ujh.1_Missense_Mutation_p.A266E	1	1		benign(0.002)	p.A266E	NM_004727	NP_004718			1	NCKX1_HUMAN	SLC24A1	HGNC	O60721	NCKX1_HUMAN					2	1084	+			UPI000013020C	266			Extracellular (Potential).		SNV	SLC24A1,missense_variant,p.Ala266Glu,ENST00000261892,NM_004727.2,NM_001254740.1;SLC24A1,missense_variant,p.Ala266Glu,ENST00000339868,NM_001254740.1;SLC24A1,missense_variant,p.Ala266Glu,ENST00000537259,;SLC24A1,missense_variant,p.Ala266Glu,ENST00000399033,;SLC24A1,missense_variant,p.Ala266Glu,ENST00000546330,;SLC24A1,missense_variant,p.Ala266Glu,ENST00000544319,;SLC24A1,intron_variant,,ENST00000425561,;SLC24A1,downstream_gene_variant,,ENST00000535950,;SLC24A1,non_coding_transcript_exon_variant,,ENST00000434116,;	uc010ujf.1	c.797C>A	1084/5768	2	2			c.797C>A						15	SNP	c.(796-798)GCA>GAA	18	18				0	Broad	solute carrier family 24			65917215		0.473	ENSG00000074621	14240	g.chr15:65917215C>A	response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity							179.09229	KEEP	24	36	0.6	37	40	24	36	0.6	179.571862	37	40	0.43609	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC24A1_uc010ujd.1_Missense_Mutation_p.A266E|SLC24A1_uc010uje.1_Missense_Mutation_p.A266E|SLC24A1_uc010ujg.1_Missense_Mutation_p.A266E|SLC24A1_uc010ujh.1_Missense_Mutation_p.A266E	127	GBM-12-3652-TP	p.A266E	C	GAGGTAGAAGCAAACGTCTTG	NM_004727	NP_004718	65917215	O60721	NCKX1_HUMAN	0			2	1084	+	A	A			Missense_Mutation	266			Extracellular (Potential).			
SLC24A3	57419	broad.mit.edu	GRCh37	20	19677519	19677519	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01	TCGA-06-0169-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328041.6:c.1570C>T	p.Pro524Ser	p.P524S	ENST00000328041	NM_020689.3	524	Cct/Tct	0			1			T	P/S	uc002wrl.2	protein_coding	YES	CCDS13140.1			1570/1935									ovary(1)	1	c.(1570-1572)CCT>TCT			Pfam_domain:PF01699,hmmpanther:PTHR10846,hmmpanther:PTHR10846:SF22,TIGRFAM_domain:TIGR00367,Transmembrane_helices:TMhelix	solute carrier family 24				ENSP00000333519		14/17									COSM3404963	14/17	.		ENST00000328041	Transcript				integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	ENSG00000185052	g.chr20:19677519C>T	10977			MODERATE		3.195	medium	getma.org/?cm=msa&ty=f&p=NCKX3_HUMAN&rb=485&re=625&var=P524S	getma.org/pdb.php?prot=NCKX3_HUMAN&from=485&to=625&var=P524S	getma.org/?cm=var&var=hg19,20,19677519,C,T&fts=all	P524S	--	--	1																																			1	1		probably_damaging(1)	p.P524S	NM_020689	NP_065740		deleterious(0)	1	NCKX3_HUMAN	SLC24A3	HGNC	Q9HC58	NCKX3_HUMAN					14	1767	+			UPI00001A8BFD	524			Alpha-2.|Helical; (Potential).		SNV	SLC24A3,missense_variant,p.Pro524Ser,ENST00000328041,NM_020689.3;RP4-718D20.3,intron_variant,,ENST00000609846,;RP4-718D20.3,upstream_gene_variant,,ENST00000608476,;RP4-718D20.3,upstream_gene_variant,,ENST00000609610,;RP4-718D20.3,upstream_gene_variant,,ENST00000598694,;RP4-718D20.3,upstream_gene_variant,,ENST00000593770,;RP4-718D20.3,upstream_gene_variant,,ENST00000600889,;RP4-718D20.3,upstream_gene_variant,,ENST00000435992,;RP4-718D20.3,upstream_gene_variant,,ENST00000608187,;	uc002wrl.2	c.1570C>T	1767/3929	1	1			c.1570C>T						20	SNP	c.(1570-1572)CCT>TCT	14	14			ovary(1)	1	Broad	solute carrier family 24			19677519		0.448	ENSG00000185052	14242	g.chr20:19677519C>T		integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity							-19.994857	KEEP	5	0	-1	70	60	5	0	-1	6.513592	70	60	0.035398	1	0	0	0	0	1	0	0	0	--	--		0	T				34	GBM-06-0169-TP	p.P524S	C	GACCAGCGTGCCTGACTGCAT	NM_020689	NP_065740	19677519	Q9HC58	NCKX3_HUMAN	0			14	1767	+	T	T			Missense_Mutation	524			Alpha-2.|Helical; (Potential).			
SLC25A10	1468		GRCh37	17	79687107	79687107	+	stop_lost	Nonstop_Mutation	SNP	A	A	C			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000331531.5:c.891A>C	p.Ter297CysextTer14	p.*297Cext*14	ENST00000331531	NM_001270888.1	297	tgA/tgC	0																																																																																																																																																																																																																																												
SLC25A14	9016	broad.mit.edu	GRCh37	X	129506901	129506901	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000218197.5:c.955C>A	p.Gln319Lys	p.Q319K	ENST00000218197	NM_022810.1	319	Cag/Aag	0			1			A	Q/K	uc004evn.1	protein_coding	YES	CCDS14623.1			955/978									ovary(1)	1	c.(955-957)CAG>AAG			Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,Prints_domain:PR00784,PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF236	solute carrier family 25, member 14 isoform				ENSP00000218197		10-Oct									COSM2151496,COSM2151497	10-Oct	.		ENST00000218197	Transcript			aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding	ENSG00000102078	g.chrX:129506901C>A	10984			MODERATE		1.725	low	getma.org/?cm=msa&ty=f&p=UCP5_HUMAN&rb=232&re=325&var=Q319K	getma.org/pdb.php?prot=UCP5_HUMAN&from=232&to=325&var=Q319K	getma.org/?cm=var&var=hg19,X,129506901,C,A&fts=all	Q319K	--	--	1																																		SLC25A14_uc004evo.1_Missense_Mutation_p.Q140K|SLC25A14_uc004evp.1_Missense_Mutation_p.Q319K|SLC25A14_uc004evq.1_Missense_Mutation_p.Q316K|SLC25A14_uc004evr.1_Missense_Mutation_p.Q347K	1,1	1		possibly_damaging(0.619)	p.Q319K	NM_003951	NP_003942		deleterious(0.03)	1,1	UCP5_HUMAN	SLC25A14	HGNC	O95258	UCP5_HUMAN			Q5JY88_HUMAN,B4DMK1_HUMAN,B4DJN2_HUMAN		11	1168	+			UPI0000137A3B	319			Solcar 3.		SNV	SLC25A14,missense_variant,p.Gln319Lys,ENST00000218197,NM_022810.1,NM_003951.2,NM_001282198.1,NM_001282195.1;SLC25A14,missense_variant,p.Gln347Lys,ENST00000339231,NM_001282197.1;SLC25A14,missense_variant,p.Gln316Lys,ENST00000361980,NM_001282196.1;SLC25A14,downstream_gene_variant,,ENST00000543953,;SLC25A14,non_coding_transcript_exon_variant,,ENST00000465988,;SLC25A14,non_coding_transcript_exon_variant,,ENST00000478474,;	uc004evn.1	c.955C>A	1182/1616	2	2			c.955C>A						23	SNP	c.(955-957)CAG>AAG	21	21			ovary(1)	1	Broad	solute carrier family 25, member 14 isoform			129506901		0.398	ENSG00000102078	14251	g.chrX:129506901C>A	aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding							186.571413	KEEP	67	40	0.373831776	216	191	67	40	0.373831776	219.674767	216	191	0.218543	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC25A14_uc004evo.1_Missense_Mutation_p.Q140K|SLC25A14_uc004evp.1_Missense_Mutation_p.Q319K|SLC25A14_uc004evq.1_Missense_Mutation_p.Q316K|SLC25A14_uc004evr.1_Missense_Mutation_p.Q347K	62	GBM-06-0649-TP	p.Q319K	C	TACATACGAGCAGCTAAAGAG	NM_003951	NP_003942	129506901	O95258	UCP5_HUMAN	0			11	1168	+	A	A			Missense_Mutation	319			Solcar 3.			
SLC25A14	0	broad.mit.edu	GRCh37	X	129492634	129492634	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-32-2494-01	TCGA-32-2494-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000218197.5:c.519A>G	p.Gly173=	p.G173=	ENST00000218197	NM_022810.1	173	ggA/ggG	0			1			G	G	uc004evn.1	protein_coding	YES	CCDS14623.1			519/978									ovary(1)	1	c.(517-519)GGA>GGG			Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF236	solute carrier family 25, member 14 isoform				ENSP00000218197		10-Jun									COSM3405968,COSM3405969	10-Jun	.		ENST00000218197	Transcript			aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding	ENSG00000102078	g.chrX:129492634A>G	10984			LOW								--	--	1																																		SLC25A14_uc011mut.1_Missense_Mutation_p.K110E|SLC25A14_uc011muu.1_Silent_p.G173G|SLC25A14_uc010nrg.2_Silent_p.G170G|SLC25A14_uc004evo.1_5'UTR|SLC25A14_uc004evp.1_Silent_p.G173G|SLC25A14_uc004evq.1_Silent_p.G170G|SLC25A14_uc004evr.1_Silent_p.G170G	1,1	1			p.G173G	NM_003951	NP_003942			1,1	UCP5_HUMAN	SLC25A14	HGNC	O95258	UCP5_HUMAN			Q5JY88_HUMAN,B4DMK1_HUMAN,B4DJN2_HUMAN		7	732	+			UPI0000137A3B	173			Solcar 2.		SNV	SLC25A14,synonymous_variant,p.=,ENST00000543953,;SLC25A14,synonymous_variant,p.=,ENST00000218197,NM_022810.1,NM_003951.2,NM_001282198.1,NM_001282195.1;SLC25A14,synonymous_variant,p.=,ENST00000339231,NM_001282197.1;SLC25A14,synonymous_variant,p.=,ENST00000545805,;SLC25A14,synonymous_variant,p.=,ENST00000361980,NM_001282196.1;SLC25A14,synonymous_variant,p.=,ENST00000424447,;SLC25A14,non_coding_transcript_exon_variant,,ENST00000467496,;SLC25A14,non_coding_transcript_exon_variant,,ENST00000478474,;SLC25A14,non_coding_transcript_exon_variant,,ENST00000464184,;SLC25A14,non_coding_transcript_exon_variant,,ENST00000464342,;SLC25A14,non_coding_transcript_exon_variant,,ENST00000471795,;SLC25A14,non_coding_transcript_exon_variant,,ENST00000495156,;	uc004evn.1	c.519A>G	746/1616	4	4			c.519A>G						23	SNP	c.(517-519)GGA>GGG	30	30			ovary(1)	1	Broad	solute carrier family 25, member 14 isoform			129492634		0.353	ENSG00000102078	14251	g.chrX:129492634A>G	aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding							230.002379	KEEP	37	42	-1	86	94	37	42	-1	236.7983	86	94	0.313636	1	0	0	0	0	0	0	1	0	--	--		0	G			SLC25A14_uc011mut.1_Missense_Mutation_p.K110E|SLC25A14_uc011muu.1_Silent_p.G173G|SLC25A14_uc010nrg.2_Silent_p.G170G|SLC25A14_uc004evo.1_5'UTR|SLC25A14_uc004evp.1_Silent_p.G173G|SLC25A14_uc004evq.1_Silent_p.G170G|SLC25A14_uc004evr.1_Silent_p.G170G	236	GBM-32-2494-TP	p.G173G	A	AGGCTCAAGGAAGCTTGTTCC	NM_003951	NP_003942	129492634	O95258	UCP5_HUMAN	0			7	732	+	G	G			Silent	173			Solcar 2.			
SLC25A19	60386	broad.mit.edu	GRCh37	17	73274326	73274326	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0221-01	TCGA-06-0221-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000402418.3:c.550G>A	p.Ala184Thr	p.A184T	ENST00000402418		184	Gcc/Acc	0			1			T	A/T	uc002jns.3	protein_coding		CCDS11720.1			550/963									ovary(1)	1	c.(550-552)GCC>ACC			PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF59,hmmpanther:PTHR24089,Pfam_domain:PF00153,Gene3D:1okcA00,Superfamily_domains:0048588,Prints_domain:PR00926	solute carrier family 25, member 19				ENSP00000319574		9-Jul									COSM3403211	9-Jul	.		ENST00000320362	Transcript	1			integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity	ENSG00000125454	g.chr17:73274326C>T	14409			MODERATE		2.19	medium	getma.org/?cm=msa&ty=f&p=TPC_HUMAN&rb=114&re=206&var=A184T	getma.org/pdb.php?prot=TPC_HUMAN&from=114&to=206&var=A184T	getma.org/?cm=var&var=hg19,17,73274326,C,T&fts=all	A184T	--	--	1																																		SLC25A19_uc010dge.2_Missense_Mutation_p.A127T|SLC25A19_uc002jnv.3_Missense_Mutation_p.A184T|SLC25A19_uc002jnu.3_Missense_Mutation_p.A184T|SLC25A19_uc002jnw.3_Missense_Mutation_p.A184T|SLC25A19_uc002jnt.3_Missense_Mutation_p.A184T	1			possibly_damaging(0.739)	p.A184T	NM_021734	NP_068380		deleterious(0.02)	1	TPC_HUMAN	SLC25A19	HGNC	Q9HC21	TPC_HUMAN	all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)		Q5JPC1_HUMAN,J3QS02_HUMAN,J3QLV3_HUMAN,J3QL84_HUMAN,J3KTL0_HUMAN,J3KSI7_HUMAN,J3KS44_HUMAN		4	1460	-	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		UPI000012963A	184			Solcar 2.|Helical; Name=4; (Potential).		SNV	SLC25A19,missense_variant,p.Ala184Thr,ENST00000402418,;SLC25A19,missense_variant,p.Ala184Thr,ENST00000320362,;SLC25A19,missense_variant,p.Ala184Thr,ENST00000416858,NM_001126121.1;SLC25A19,missense_variant,p.Ala184Thr,ENST00000580994,NM_021734.4;SLC25A19,missense_variant,p.Ala184Thr,ENST00000442286,NM_001126122.1;SLC25A19,missense_variant,p.Ala127Thr,ENST00000375261,;SLC25A19,missense_variant,p.Ala83Thr,ENST00000580273,;SLC25A19,intron_variant,,ENST00000583332,;SLC25A19,intron_variant,,ENST00000582822,;RP11-649A18.12,downstream_gene_variant,,ENST00000585075,;RP11-649A18.12,downstream_gene_variant,,ENST00000582668,;	uc002jns.3	c.550G>A	780/1651	2	2			c.550G>A						17	SNP	c.(550-552)GCC>ACC	42	42			ovary(1)	1	Broad	solute carrier family 25, member 19			73274326		0.562	ENSG00000125454	14256	g.chr17:73274326C>T		integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity							-59.489902	KEEP	8	1	-1	123	199	8	1	-1	13.285081	123	199	0.027119	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC25A19_uc010dge.2_Missense_Mutation_p.A127T|SLC25A19_uc002jnv.3_Missense_Mutation_p.A184T|SLC25A19_uc002jnu.3_Missense_Mutation_p.A184T|SLC25A19_uc002jnw.3_Missense_Mutation_p.A184T|SLC25A19_uc002jnt.3_Missense_Mutation_p.A184T	53	GBM-06-0221-TP	p.A184T	C	GGGAAGATGGCGATCAAGGTG	NM_021734	NP_068380	73274326	Q9HC21	TPC_HUMAN	0	all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)		4	1460	-	T	T	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		Missense_Mutation	184			Solcar 2.|Helical; Name=4; (Potential).			
SLC25A32	0	broad.mit.edu	GRCh37	8	104412724	104412724	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-12-0615-01	TCGA-12-0615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297578.4:c.863G>C	p.Arg288Thr	p.R288T	ENST00000297578	NM_030780.4	288	aGa/aCa	0			1			G	R/T	uc003yll.2	protein_coding	YES	CCDS6300.1			863/948									ovary(1)	1	c.(862-864)AGA>ACA			Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF62	solute carrier family 25, member 32	Folic Acid(DB00158)			ENSP00000297578		7-Jul									COSM2153517	7-Jul	.		ENST00000297578	Transcript			folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity	ENSG00000164933	g.chr8:104412724C>G	29683			MODERATE		3.095	medium	getma.org/?cm=msa&ty=f&p=MFTC_HUMAN&rb=220&re=311&var=R288T	getma.org/pdb.php?prot=MFTC_HUMAN&from=220&to=311&var=R288T	getma.org/?cm=var&var=hg19,8,104412724,C,G&fts=all	R288T	--	--	1																																		SLC25A32_uc011lhr.1_Missense_Mutation_p.R156T	1	1		benign(0.192)	p.R288T	NM_030780	NP_110407		deleterious(0.02)	1	MFTC_HUMAN	SLC25A32	HGNC	Q9H2D1	MFTC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		B4DUQ5_HUMAN		7	1166	-			UPI0000040C0F	288			Solcar 3.|Helical; Name=6; (Potential).		SNV	SLC25A32,missense_variant,p.Arg288Thr,ENST00000297578,NM_030780.4;SLC25A32,missense_variant,p.Arg156Thr,ENST00000543107,;SLC25A32,downstream_gene_variant,,ENST00000523701,;SLC25A32,3_prime_UTR_variant,,ENST00000521645,;SLC25A32,3_prime_UTR_variant,,ENST00000523256,;SLC25A32,3_prime_UTR_variant,,ENST00000523866,;	uc003yll.2	c.863G>C	1030/2891	3	3			c.863G>C						8	SNP	c.(862-864)AGA>ACA	5	5			ovary(1)	1	Broad	solute carrier family 25, member 32		Folic Acid(DB00158)	104412724		0.368	ENSG00000164933	14271	g.chr8:104412724C>G	folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity							313.759836	KEEP	49	49	-1	73	86	49	49	-1	315.925632	73	86	0.394619	1	0	0	0	0	1	0	0	0	--	--		0	G			SLC25A32_uc011lhr.1_Missense_Mutation_p.R156T	117	GBM-12-0615-TP	p.R288T	C	TGGAGTCACTCTAATCAAATT	NM_030780	NP_110407	104412724	Q9H2D1	MFTC_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		7	1166	-	G	G			Missense_Mutation	288			Solcar 3.|Helical; Name=6; (Potential).			
SLC25A32	81034		GRCh37	8	104417070	104417070	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000297578.4:c.325T>A	p.Tyr109Asn	p.Y109N	ENST00000297578	NM_030780.4	109	Tat/Aat	0																																																																																																																																																																																																																																												
SLC25A34	284723	broad.mit.edu	GRCh37	1	16065774	16065775	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C			TCGA-06-0174-01	TCGA-06-0174-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294454.5:c.793dup	p.Leu265ProfsTer59	p.L265Pfs*59	ENST00000294454	NM_207348.1	263	ggc/ggCc	0			1			C	G/GX	uc001axb.1	protein_coding	YES	CCDS162.1			788-789/915										0	c.(787-789)GGCfs			Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF209	solute carrier family 25, member 34				ENSP00000294454		5-May										5-May	.		ENST00000294454	Transcript			transport	integral to membrane|mitochondrial inner membrane		ENSG00000162461	g.chr1:16065774_16065775insC	27653	5		HIGH								--	--	1																																		SLC25A34_uc009vok.1_RNA		1			p.G263fs	NM_207348	NP_997231				S2534_HUMAN	SLC25A34	HGNC	Q6PIV7	S2534_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)			5	960_961	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	UPI00001A7D46	263			Solcar 3.		insertion	SLC25A34,frameshift_variant,p.Leu265ProfsTer59,ENST00000294454,NM_207348.1;PLEKHM2,downstream_gene_variant,,ENST00000375799,NM_015164.2;PLEKHM2,downstream_gene_variant,,ENST00000375793,;TMEM82,upstream_gene_variant,,ENST00000375782,NM_001013641.2;RP11-288I21.1,upstream_gene_variant,,ENST00000453804,;RP11-169K16.4,downstream_gene_variant,,ENST00000418525,;SLC25A34,non_coding_transcript_exon_variant,,ENST00000489568,;SLC25A34,non_coding_transcript_exon_variant,,ENST00000465495,;TMEM82,upstream_gene_variant,,ENST00000465575,;	uc001axb.1	c.788_789insC	869-870/2986	5	5			c.788_789insC						1	INS	c.(787-789)GGCfs	61	61				0	Broad	solute carrier family 25, member 34			16065775		0.649	ENSG00000162461	14273	g.chr1:16065774_16065775insC	transport	integral to membrane|mitochondrial inner membrane																					0.04	1	0	0	1	1	0	0	0	0	--	--		0	C			SLC25A34_uc009vok.1_RNA	37	GBM-06-0174-TP	p.G263fs	-	CGGCAGGAGGGCCCCCTGGCAC	NM_207348	NP_997231	16065774	Q6PIV7	S2534_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	5	960_961	+	C	C		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	Frame_Shift_Ins	263			Solcar 3.			
SLC25A36	0	broad.mit.edu	GRCh37	3	140692641	140692641	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01	TCGA-28-5207-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324194.6:c.536G>A	p.Gly179Asp	p.G179D	ENST00000324194		179	gGc/gAc	0			1			A	G/D	uc003etr.2	protein_coding	YES	CCDS46927.1			536/936										0	c.(535-537)GGC>GAC			PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF180,hmmpanther:PTHR24089,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588	solute carrier family 25, member 36 isoform a				ENSP00000320688		7-Jun									COSM3408288	7-Jun	.		ENST00000324194	Transcript			response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	ENSG00000114120	g.chr3:140692641G>A	25554			MODERATE		4.675	high	getma.org/?cm=msa&ty=f&p=S2536_HUMAN&rb=114&re=208&var=G179D	getma.org/pdb.php?prot=S2536_HUMAN&from=114&to=208&var=G179D	getma.org/?cm=var&var=hg19,3,140692641,G,A&fts=all	G179D	--	--	1																																		SLC25A36_uc003ets.2_Missense_Mutation_p.G179D|SLC25A36_uc003etq.2_Missense_Mutation_p.G22D|SLC25A36_uc011bmz.1_Missense_Mutation_p.G153D	1	1		possibly_damaging(0.853)	p.G179D	NM_001104647	NP_001098117		deleterious(0)	1	S2536_HUMAN	SLC25A36	HGNC	Q96CQ1	S2536_HUMAN					6	771	+			UPI000006D558	179			Solcar 2.		SNV	SLC25A36,missense_variant,p.Gly179Asp,ENST00000446041,NM_018155.2,NM_001104647.1;SLC25A36,missense_variant,p.Gly179Asp,ENST00000324194,;SLC25A36,missense_variant,p.Gly153Asp,ENST00000453248,;SLC25A36,downstream_gene_variant,,ENST00000513887,;RP11-231L11.3,downstream_gene_variant,,ENST00000513802,;SLC25A36,3_prime_UTR_variant,,ENST00000502594,;SLC25A36,3_prime_UTR_variant,,ENST00000512023,;SLC25A36,3_prime_UTR_variant,,ENST00000512506,;SLC25A36,non_coding_transcript_exon_variant,,ENST00000511757,;SLC25A36,non_coding_transcript_exon_variant,,ENST00000502866,;SLC25A36,non_coding_transcript_exon_variant,,ENST00000514629,;	uc003etr.2	c.536G>A	704/1301	1	1			c.536G>A						3	SNP	c.(535-537)GGC>GAC	56	56				0	Broad	solute carrier family 25, member 36 isoform a			140692641		0.368	ENSG00000114120	14275	g.chr3:140692641G>A	response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding							-19.30602	KEEP	4	0	-1	53	62	4	0	-1	7.49148	53	62	0.035088	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC25A36_uc003ets.2_Missense_Mutation_p.G179D|SLC25A36_uc003etq.2_Missense_Mutation_p.G22D|SLC25A36_uc011bmz.1_Missense_Mutation_p.G153D	216	GBM-28-5207-TP	p.G179D	G	TTTTATAGGGGCATGTCTGCT	NM_001104647	NP_001098117	140692641	Q96CQ1	S2536_HUMAN	0			6	771	+	A	A			Missense_Mutation	179			Solcar 2.			
SLC25A39	51629	broad.mit.edu	GRCh37	17	42400868	42400868	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0184-01	TCGA-06-0184-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377095.5:c.63G>A	p.Gly21=	p.G21=	ENST00000377095	NM_001143780.1	21	ggG/ggA	0		T:0.0008	1	T:0		T	G	uc002ign.2	protein_coding	YES	CCDS45700.1			63/1080									upper_aerodigestive_tract(1)	1	c.(61-63)GGG>GGA			Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF193,Transmembrane_helices:TMhelix	solute carrier family 25, member 39 isoform a		T:0		ENSP00000366299	T:0.001	12-Feb	0.00021	0.000763	0.00114			0.00105			rs199722360,COSM3402935	12-Feb	common_variant		ENST00000377095	Transcript		T:0.0004	heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		ENSG00000013306	g.chr17:42400868C>T	24279			LOW								--	--	1																																		SLC25A39_uc002igm.2_Silent_p.G21G|SLC25A39_uc002igo.2_Silent_p.G21G|SLC25A39_uc010wiw.1_Silent_p.G21G|SLC25A39_uc010czu.2_Intron|SLC25A39_uc010wix.1_Silent_p.G21G|SLC25A39_uc010wiy.1_Silent_p.G21G	0,1	1			p.G21G	NM_001143780	NP_001137252	T:0		0,1	S2539_HUMAN	SLC25A39	HGNC	Q9BZJ4	S2539_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	K7EMW3_HUMAN,K7ELM7_HUMAN		2	217	-		Prostate(33;0.0233)	UPI00001AE651	21			Solcar 1.|Helical; Name=1; (Potential).		SNV	SLC25A39,synonymous_variant,p.=,ENST00000225308,NM_016016.2;SLC25A39,synonymous_variant,p.=,ENST00000377095,NM_001143780.1;SLC25A39,synonymous_variant,p.=,ENST00000590194,;SLC25A39,synonymous_variant,p.=,ENST00000537904,;SLC25A39,synonymous_variant,p.=,ENST00000588049,;SLC25A39,synonymous_variant,p.=,ENST00000592857,;SLC25A39,synonymous_variant,p.=,ENST00000585523,;SLC25A39,synonymous_variant,p.=,ENST00000586633,;SLC25A39,synonymous_variant,p.=,ENST00000585636,;SLC25A39,intron_variant,,ENST00000586016,;RUNDC3A,downstream_gene_variant,,ENST00000426726,NM_001144825.1;SLC25A39,upstream_gene_variant,,ENST00000588767,;SLC25A39,non_coding_transcript_exon_variant,,ENST00000591006,;SLC25A39,non_coding_transcript_exon_variant,,ENST00000588315,;SLC25A39,non_coding_transcript_exon_variant,,ENST00000585695,;SLC25A39,non_coding_transcript_exon_variant,,ENST00000591151,;RUNDC3A,downstream_gene_variant,,ENST00000587483,;RUNDC3A,downstream_gene_variant,,ENST00000590834,;SLC25A39,upstream_gene_variant,,ENST00000592372,;SLC25A39,upstream_gene_variant,,ENST00000593166,;RUNDC3A,downstream_gene_variant,,ENST00000588564,;	uc002ign.2	c.63G>A	183/1565	2	2			c.63G>A						17	SNP	c.(61-63)GGG>GGA	22	22			upper_aerodigestive_tract(1)	1	Broad	solute carrier family 25, member 39 isoform a			42400868		0.617	ENSG00000013306	14278	g.chr17:42400868C>T	heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane								48.284324	KEEP	6	8	-1	1	4	6	8	-1	49.373776	1	4	0.764706	1	0	0	0	0	0	0	1	0	--	--		0	T			SLC25A39_uc002igm.2_Silent_p.G21G|SLC25A39_uc002igo.2_Silent_p.G21G|SLC25A39_uc010wiw.1_Silent_p.G21G|SLC25A39_uc010czu.2_Intron|SLC25A39_uc010wix.1_Silent_p.G21G|SLC25A39_uc010wiy.1_Silent_p.G21G	39	GBM-06-0184-TP	p.G21G	C	TAACCACAGCCCCGGTGCCTG	NM_001143780	NP_001137252	42400868	Q9BZJ4	S2539_HUMAN	0		BRCA - Breast invasive adenocarcinoma(366;0.189)	2	217	-	T	T		Prostate(33;0.0233)	Silent	21			Solcar 1.|Helical; Name=1; (Potential).			
SLC25A42	0	broad.mit.edu	GRCh37	19	19217127	19217127	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs145774094	by1000genomes	TCGA-12-5301-01	TCGA-12-5301-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318596.7:c.430A>C	p.Thr144Pro	p.T144P	ENST00000318596	NM_178526.4	144	Aca/Cca	0			1			C	T/P	uc002nlf.1	protein_coding	YES	CCDS32966.1			430/957										0	c.(430-432)ACA>CCA			Low_complexity_(Seg):seg,PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF242,hmmpanther:PTHR24089,Pfam_domain:PF00153,Gene3D:1okcA00,Superfamily_domains:0048588,Prints_domain:PR00926	solute carrier family 25, member 42				ENSP00000326693		8-Jun	0.000189	9.81E-05			0.000937	0.000107			rs764642274,COSM3748047	8-Jun	common_variant		ENST00000318596	Transcript			transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	ENSG00000181035	g.chr19:19217127A>C	28380			MODERATE		3.535	high	getma.org/?cm=msa&ty=f&p=S2542_HUMAN&rb=127&re=219&var=T144P	getma.org/pdb.php?prot=S2542_HUMAN&from=127&to=219&var=T144P	getma.org/?cm=var&var=hg19,19,19217127,A,C&fts=all	T144P	--	--	1																																		SLC25A42_uc010xqn.1_Missense_Mutation_p.T196P	0,1	1		probably_damaging(0.988)	p.T144P	NM_178526	NP_848621		deleterious(0.02)	0,1	S2542_HUMAN	SLC25A42	HGNC	Q86VD7	S2542_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)				6	581	+			UPI0000198748	144			Helical; Name=3; (Potential).|Solcar 2.		SNV	SLC25A42,missense_variant,p.Thr144Pro,ENST00000318596,NM_178526.4;SLC25A42,non_coding_transcript_exon_variant,,ENST00000600275,;SLC25A42,non_coding_transcript_exon_variant,,ENST00000594070,;SLC25A42,non_coding_transcript_exon_variant,,ENST00000596819,;SLC25A42,non_coding_transcript_exon_variant,,ENST00000597661,;SLC25A42,downstream_gene_variant,,ENST00000600251,;	uc002nlf.1	c.430A>C	581/3120	3	3			c.430A>C						19	SNP	c.(430-432)ACA>CCA	63	63				0	Broad	solute carrier family 25, member 42			19217127		0.642	ENSG00000181035	14282	g.chr19:19217127A>C	transmembrane transport	integral to membrane|mitochondrial inner membrane	binding							-1.819377	KEEP	19	6	-1	56	53	19	6	-1	7.576898	56	53	0.140845	1	0	0	0	0	1	0	0	0	--	--		0	C			SLC25A42_uc010xqn.1_Missense_Mutation_p.T196P	131	GBM-12-5301-TP	p.T144P	A	GGCTGGAACGACAGCCGCTTC	NM_178526	NP_848621	19217127	Q86VD7	S2542_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)		6	581	+	C	C			Missense_Mutation	144			Helical; Name=3; (Potential).|Solcar 2.			
SLC25A42	284439		GRCh37	19	19206999	19206999	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000318596.7:c.66G>T	p.Ser22=	p.S22=	ENST00000318596	NM_178526.4	22	tcG/tcT	0																																																																																																																																																																																																																																												
SLC25A45	0	broad.mit.edu	GRCh37	11	65143941	65143941	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1986-01	TCGA-32-1986-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398802.1:c.804C>T	p.Arg268=	p.R268=	ENST00000398802	NM_182556.2	268	cgC/cgT	0			1			A	R	uc001odp.1	protein_coding	YES	CCDS41670.1			804/867										0	c.(802-804)CGC>CGT			Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF249,PROSITE_profiles:PS50920	solute carrier family 25, member 45 isoform b				ENSP00000381782		7-Jul									COSM1226138	7-Jul	.		ENST00000398802	Transcript			transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	ENSG00000162241	g.chr11:65143941G>A	27442			LOW								--	--	1																																		SLC25A45_uc009yqi.1_Silent_p.R206R|SLC25A45_uc001odq.1_Silent_p.R244R|SLC25A45_uc001odr.1_Silent_p.R268R|SLC25A45_uc001ods.1_Silent_p.R226R|SLC25A45_uc001odt.1_Silent_p.R226R	1	1			p.R268R	NM_001077241	NP_001070709			1	S2545_HUMAN	SLC25A45	HGNC	Q8N413	S2545_HUMAN			E9PK53_HUMAN		6	1226	-			UPI0000199B26	268			Helical; Name=6; (Potential).|Solcar 3.		SNV	SLC25A45,synonymous_variant,p.=,ENST00000417511,NM_001278251.1;SLC25A45,synonymous_variant,p.=,ENST00000534028,NM_001278250.1;SLC25A45,synonymous_variant,p.=,ENST00000398802,NM_182556.2;SLC25A45,synonymous_variant,p.=,ENST00000360662,;SLC25A45,synonymous_variant,p.=,ENST00000294187,NM_001077241.1;SLC25A45,synonymous_variant,p.=,ENST00000527174,;SLC25A45,synonymous_variant,p.=,ENST00000377152,;SLC25A45,synonymous_variant,p.=,ENST00000526432,;SLC25A45,downstream_gene_variant,,ENST00000530936,;RP11-867O8.5,downstream_gene_variant,,ENST00000533886,;SLC25A45,3_prime_UTR_variant,,ENST00000526898,;SLC25A45,non_coding_transcript_exon_variant,,ENST00000531791,;SLC25A45,intron_variant,,ENST00000534338,;SLC25A45,downstream_gene_variant,,ENST00000533629,;SLC25A45,downstream_gene_variant,,ENST00000525944,;SLC25A45,downstream_gene_variant,,ENST00000524438,;SLC25A45,downstream_gene_variant,,ENST00000526259,;SLC25A45,downstream_gene_variant,,ENST00000529962,;	uc001odp.1	c.804C>T	1008/2286	2	2			c.804C>T						11	SNP	c.(802-804)CGC>CGT	20	20				0	Broad	solute carrier family 25, member 45 isoform b			65143941		0.617	ENSG00000162241	14285	g.chr11:65143941G>A	transmembrane transport	integral to membrane|mitochondrial inner membrane	binding							45.387872	KEEP	9	10	-1	36	25	9	10	-1	49.96496	36	25	0.24	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC25A45_uc009yqi.1_Silent_p.R206R|SLC25A45_uc001odq.1_Silent_p.R244R|SLC25A45_uc001odr.1_Silent_p.R268R|SLC25A45_uc001ods.1_Silent_p.R226R|SLC25A45_uc001odt.1_Silent_p.R226R	233	GBM-32-1986-TP	p.R268R	G	CGGGAAAGGCGCGGGCACTGT	NM_001077241	NP_001070709	65143941	Q8N413	S2545_HUMAN	0			6	1226	-	A	A			Silent	268			Helical; Name=6; (Potential).|Solcar 3.			
SLC25A52	0	broad.mit.edu	GRCh37	18	29339972	29339972	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-41-2571-01	TCGA-41-2571-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000579441.2:c.653G>C	p.Gly218Ala	p.G218A	ENST00000579441		218	gGa/gCa	0			1			G	G/A	uc002kxa.2	protein_coding					653/894									skin(1)	1	c.(652-654)GGA>GCA			Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF253,Low_complexity_(Seg):seg	mitochondrial carrier triple repeat 2				ENSP00000462754		1-Jan									COSM3403518,COSM3403519	1-Jan	.		ENST00000579441	Transcript			transport	integral to membrane|mitochondrial inner membrane		ENSG00000141437	g.chr18:29339972C>G	23324			MODERATE		2.52	medium	getma.org/?cm=msa&ty=f&p=MCAR2_HUMAN&rb=207&re=297&var=G218A	NA	getma.org/?cm=var&var=hg19,18,29339972,C,G&fts=all	G218A	--	--	1																																			1,1			probably_damaging(0.983)	p.G218A	NM_001034172	NP_001029344		deleterious(0)	1,1	S2552_HUMAN	SLC25A52	HGNC	Q3SY17	MCAR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0539)				1	872	-			UPI000013D808	218			Helical; Name=5; (Potential).|Solcar 3.		SNV	SLC25A52,missense_variant,p.Gly228Ala,ENST00000269205,NM_001034172.2;SLC25A52,missense_variant,p.Gly218Ala,ENST00000579441,;	uc002kxa.2	c.653G>C	653/894	3	3			c.653G>C						18	SNP	c.(652-654)GGA>GCA	3	3			skin(1)	1	Broad	mitochondrial carrier triple repeat 2			29339972		0.458	ENSG00000141437	9197	g.chr18:29339972C>G	transport	integral to membrane|mitochondrial inner membrane								-17.188703	KEEP	3	1	-1	65	58	3	1	-1	9.585819	65	58	0.035088	1	0	0	0	0	1	0	0	0	--	--		0	G				250	GBM-41-2571-TP	p.G218A	C	CAATAGACCTCCACCGATAAA	NM_001034172	NP_001029344	29339972	Q3SY17	MCAR2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(10;0.0539)		1	872	-	G	G			Missense_Mutation	218			Helical; Name=5; (Potential).|Solcar 3.			
SLC26A10P	0	broad.mit.edu	GRCh37	12	58014190	58014190	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01	TCGA-28-5208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320442.4:c.187G>A	p.Val63Ile	p.V63I	ENST00000320442	NM_133489.2	63	Gtc/Atc	0			1			A	V/I	uc001spe.2	protein_coding	YES	CCDS8949.2			187/1692									large_intestine(1)|central_nervous_system(1)	2	c.(187-189)GTC>ATC			Transmembrane_helices:TMhelix,hmmpanther:PTHR11814:SF57,hmmpanther:PTHR11814,Pfam_domain:PF13792	solute carrier family 26, member 10				ENSP00000320217		14-Jan									COSM3398938,COSM3398939	14-Jan	.		ENST00000320442	Transcript				integral to membrane	antiporter activity	ENSG00000135502	g.chr12:58014190G>A	14470			MODERATE		0.775	neutral	getma.org/?cm=msa&ty=f&p=S2610_HUMAN&rb=33&re=91&var=V63I	NA	getma.org/?cm=var&var=hg19,12,58014190,G,A&fts=all	V63I	--	--	1																																		uc001spc.2_5'Flank|SLC26A10_uc001spf.2_RNA	1,1	1		benign(0.322)	p.V63I	NM_133489	NP_597996		deleterious(0.04)	1,1	S2610_HUMAN	SLC26A10	HGNC	Q8NG04	S2610_HUMAN					1	498	+	Melanoma(17;0.122)		UPI000007059E	63			Helical; (Potential).		SNV	SLC26A10,missense_variant,p.Val63Ile,ENST00000379218,;SLC26A10,missense_variant,p.Val63Ile,ENST00000320442,NM_133489.2;ARHGEF25,downstream_gene_variant,,ENST00000286494,NM_182947.3;ARHGEF25,downstream_gene_variant,,ENST00000333972,NM_001111270.2;AC025165.8,upstream_gene_variant,,ENST00000356672,;AC025165.8,upstream_gene_variant,,ENST00000444467,;AC025165.8,upstream_gene_variant,,ENST00000593846,;AC025165.8,upstream_gene_variant,,ENST00000610219,;ARHGEF25,downstream_gene_variant,,ENST00000477314,;SLC26A10,upstream_gene_variant,,ENST00000490243,;SLC26A10,upstream_gene_variant,,ENST00000483647,;SLC26A10,missense_variant,p.Val137Ile,ENST00000474359,;SLC26A10,missense_variant,p.Val21Ile,ENST00000440686,;B4GALNT1,downstream_gene_variant,,ENST00000553142,;ARHGEF25,downstream_gene_variant,,ENST00000471370,;SLC26A10,upstream_gene_variant,,ENST00000487816,;SLC26A10,upstream_gene_variant,,ENST00000474791,;ARHGEF25,downstream_gene_variant,,ENST00000469072,;ARHGEF25,downstream_gene_variant,,ENST00000466399,;SLC26A10,upstream_gene_variant,,ENST00000497297,;SLC26A10,upstream_gene_variant,,ENST00000463802,;	uc001spe.2	c.187G>A	498/2389	2	2			c.187G>A						12	SNP	c.(187-189)GTC>ATC	21	21			large_intestine(1)|central_nervous_system(1)	2	Broad	solute carrier family 26, member 10			58014190		0.537	ENSG00000135502	14289	g.chr12:58014190G>A		integral to membrane	antiporter activity							1064.096384	KEEP	190	235	-1	258	317	190	235	-1	1069.052784	258	317	0.419612	1	0	0	0	0	1	0	0	0	--	--		0	A			uc001spc.2_5'Flank|SLC26A10_uc001spf.2_RNA	217	GBM-28-5208-TP	p.V63I	G	TTTCTTCCCCGTCCTCATCTA	NM_133489	NP_597996	58014190	Q8NG04	S2610_HUMAN	0			1	498	+	A	A	Melanoma(17;0.122)		Missense_Mutation	63			Helical; (Potential).			
SLC26A11	284129		GRCh37	17	78195495	78195495	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000361193.3:c.136C>T	p.Gln46Ter	p.Q46*	ENST00000361193	NM_001166347.1	46	Cag/Tag	0																																																																																																																																																																																																																																												
SLC26A2	0	broad.mit.edu	GRCh37	5	149360771	149360771	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-6700-01	TCGA-06-6700-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286298.4:c.1615A>G	p.Ile539Val	p.I539V	ENST00000286298	NM_000112.3	539	Ata/Gta	0			1			G	I/V	uc003lrh.2	protein_coding	YES	CCDS4300.1			1615/2220										0	c.(1615-1617)ATA>GTA			hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF16,TIGRFAM_domain:TIGR00815	solute carrier family 26 member 2				ENSP00000286298		3-Mar									COSM3409998	3-Mar	.		ENST00000286298	Transcript	1			integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	ENSG00000155850	g.chr5:149360771A>G	10994			MODERATE		1.115	low	getma.org/?cm=msa&ty=f&p=S26A2_HUMAN&rb=515&re=568&var=I539V	NA	getma.org/?cm=var&var=hg19,5,149360771,A,G&fts=all	I539V	0	neutral	1																																			1	1		benign(0.001)	p.I539V	NM_000112	NP_000103		tolerated(0.13)	1	S26A2_HUMAN	SLC26A2	HGNC	P50443	S26A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		H0YA38_HUMAN,C9JAN6_HUMAN		3	1883	+			UPI000013DE3D	539			Helical; (Potential).		SNV	SLC26A2,missense_variant,p.Ile539Val,ENST00000286298,NM_000112.3;SLC26A2,intron_variant,,ENST00000503336,;SLC26A2,downstream_gene_variant,,ENST00000433184,;	uc003lrh.2	c.1615A>G	1883/8080	3	3			c.1615A>G						5	SNP	c.(1615-1617)ATA>GTA	12	12				0	Broad	solute carrier family 26 member 2			149360771		0.423	ENSG00000155850	14291	g.chr5:149360771A>G		integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity							124.649036	KEEP	27	21	-1	68	92	27	21	-1	136.762107	68	92	0.232432	1	0	0	0	0	1	0	0	0	0	neutral		0	G				114	GBM-06-6700-TP	p.I539V	A	TTGTTTTTCTATATTTTGTGT	NM_000112	NP_000103	149360771	P50443	S26A2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		3	1883	+	G	G			Missense_Mutation	539			Helical; (Potential).			
SLC26A3	1811	broad.mit.edu	GRCh37	7	107427951	107427951	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-2563-01	TCGA-06-2563-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340010.5:c.739C>G	p.Leu247Val	p.L247V	ENST00000340010	NM_000111.2	247	Cta/Gta	0			1			C	L/V	uc003ver.2	protein_coding	YES	CCDS5748.1			739/2295									ovary(3)|skin(1)	4	c.(739-741)CTA>GTA			Pfam_domain:PF00916,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF19,TIGRFAM_domain:TIGR00815	solute carrier family 26, member 3				ENSP00000345873		21-Jul									COSM2152871	21-Jul	.		ENST00000340010	Transcript	1		excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	ENSG00000091138	g.chr7:107427951G>C	3018			MODERATE		1.62	low	getma.org/?cm=msa&ty=f&p=S26A3_HUMAN&rb=193&re=471&var=L247V	NA	getma.org/?cm=var&var=hg19,7,107427951,G,C&fts=all	L247V	--	--	1																																		SLC26A3_uc003ves.2_Missense_Mutation_p.L212V	1	1		probably_damaging(0.999)	p.L247V	NM_000111	NP_000102		tolerated(0.12)	1	S26A3_HUMAN	SLC26A3	HGNC	P40879	S26A3_HUMAN			Q75N04_HUMAN,C9JFJ2_HUMAN		7	950	-			UPI000000128C	247					SNV	SLC26A3,missense_variant,p.Leu247Val,ENST00000340010,NM_000111.2;SLC26A3,missense_variant,p.Leu212Val,ENST00000422236,;SLC26A3,downstream_gene_variant,,ENST00000453332,;SLC26A3,3_prime_UTR_variant,,ENST00000379083,;SLC26A3,non_coding_transcript_exon_variant,,ENST00000468551,;	uc003ver.2	c.739C>G	924/2863	3	3			c.739C>G						7	SNP	c.(739-741)CTA>GTA	54	54			ovary(3)|skin(1)	4	Broad	solute carrier family 26, member 3			107427951		0.323	ENSG00000091138	14292	g.chr7:107427951G>C	excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity							130.063704	KEEP	15	33	-1	71	71	15	33	-1	140.140862	71	71	0.245614	1	0	0	0	0	1	0	0	0	--	--		0	C			SLC26A3_uc003ves.2_Missense_Mutation_p.L212V	86	GBM-06-2563-TP	p.L247V	G	ACAGAGTATAGTACCTACAAT	NM_000111	NP_000102	107427951	P40879	S26A3_HUMAN	0			7	950	-	C	C			Missense_Mutation	247						
SLC26A3	0	broad.mit.edu	GRCh37	7	107431671	107431671	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01	TCGA-12-0618-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340010.5:c.392C>T	p.Pro131Leu	p.P131L	ENST00000340010	NM_000111.2	131	cCg/cTg	0			1			A	P/L	uc003ver.2	protein_coding	YES	CCDS5748.1			392/2295						likely_pathogenic			ovary(3)|skin(1)	4	c.(391-393)CCG>CTG			Pfam_domain:PF13792,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF19,TIGRFAM_domain:TIGR00815,Transmembrane_helices:TMhelix	solute carrier family 26, member 3				ENSP00000345873		21-May	8.24E-06					1.50E-05			rs386833481,COSM1699170	21-May	.		ENST00000340010	Transcript	1		excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	ENSG00000091138	g.chr7:107431671G>A	3018			MODERATE		2.96	medium	getma.org/?cm=msa&ty=f&p=S26A3_HUMAN&rb=58&re=141&var=P131L	NA	getma.org/?cm=var&var=hg19,7,107431671,G,A&fts=all	P131L	--	--	1																																		SLC26A3_uc003ves.2_Missense_Mutation_p.P96L	1,1	1	213,948,289,554,749	probably_damaging(0.982)	p.P131L	NM_000111	NP_000102		deleterious(0)	0,1	S26A3_HUMAN	SLC26A3	HGNC	P40879	S26A3_HUMAN			Q75N04_HUMAN,C9JFJ2_HUMAN		5	603	-			UPI000000128C	131		P -> R (in DIAR1).	Helical; (Potential).		SNV	SLC26A3,missense_variant,p.Pro131Leu,ENST00000340010,NM_000111.2;SLC26A3,missense_variant,p.Pro96Leu,ENST00000422236,;SLC26A3,downstream_gene_variant,,ENST00000453332,;SLC26A3,3_prime_UTR_variant,,ENST00000379083,;SLC26A3,upstream_gene_variant,,ENST00000468551,;	uc003ver.2	c.392C>T	577/2863	1	1			c.392C>T						7	SNP	c.(391-393)CCG>CTG	54	54			ovary(3)|skin(1)	4	Broad	solute carrier family 26, member 3			107431671		0.428	ENSG00000091138	14292	g.chr7:107431671G>A	excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity							-50.308678	KEEP	3	3	-1	110	142	3	3	-1	7.816902	110	142	0.018018	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC26A3_uc003ves.2_Missense_Mutation_p.P96L	119	GBM-12-0618-TP	p.P131L	G	ACTCAGAATCGGAAACGGACC	NM_000111	NP_000102	107431671	P40879	S26A3_HUMAN	0			5	603	-	A	A			Missense_Mutation	131		P -> R (in DIAR1).	Helical; (Potential).			
SLC26A3	0	broad.mit.edu	GRCh37	7	107416977	107416977	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-28-5216-01	TCGA-28-5216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340010.5:c.1597G>C	p.Glu533Gln	p.E533Q	ENST00000340010	NM_000111.2	533	Gaa/Caa	0			1			G	E/Q	uc003ver.2	protein_coding	YES	CCDS5748.1			1597/2295									ovary(3)|skin(1)	4	c.(1597-1599)GAA>CAA			Gene3D:3.30.750.24,Pfam_domain:PF01740,PROSITE_profiles:PS50801,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF19,Superfamily_domains:SSF52091,TIGRFAM_domain:TIGR00815	solute carrier family 26, member 3				ENSP00000345873		15/21									COSM3411457	15/21	.		ENST00000340010	Transcript	1		excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	ENSG00000091138	g.chr7:107416977C>G	3018			MODERATE		1.32	low	getma.org/?cm=msa&ty=f&p=S26A3_HUMAN&rb=526&re=716&var=E533Q	NA	getma.org/?cm=var&var=hg19,7,107416977,C,G&fts=all	E533Q	--	--	1																																		SLC26A3_uc003ves.2_Missense_Mutation_p.E498Q	1	1		benign(0.175)	p.E533Q	NM_000111	NP_000102		tolerated(0.19)	1	S26A3_HUMAN	SLC26A3	HGNC	P40879	S26A3_HUMAN			Q75N04_HUMAN,C9JFJ2_HUMAN		15	1808	-			UPI000000128C	533			STAS.		SNV	SLC26A3,missense_variant,p.Glu533Gln,ENST00000340010,NM_000111.2;SLC26A3,missense_variant,p.Glu498Gln,ENST00000422236,;SLC26A3,3_prime_UTR_variant,,ENST00000379083,;SLC26A3,non_coding_transcript_exon_variant,,ENST00000469651,;	uc003ver.2	c.1597G>C	1782/2863	3	3			c.1597G>C						7	SNP	c.(1597-1599)GAA>CAA	5	5			ovary(3)|skin(1)	4	Broad	solute carrier family 26, member 3			107416977		0.378	ENSG00000091138	14292	g.chr7:107416977C>G	excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity							-29.409517	KEEP	0	3	-1	62	84	0	3	-1	6.438993	62	84	0.021429	1	0	0	0	0	1	0	0	0	--	--		0	G			SLC26A3_uc003ves.2_Missense_Mutation_p.E498Q	223	GBM-28-5216-TP	p.E533Q	C	TTCACTCCTTCTGGCTCATAC	NM_000111	NP_000102	107416977	P40879	S26A3_HUMAN	0			15	1808	-	G	G			Missense_Mutation	533			STAS.			
SLC26A3	1811		GRCh37	7	107415299	107415299	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000340010.5:c.1696C>T	p.Arg566Ter	p.R566*	ENST00000340010	NM_000111.2	566	Cga/Tga	0																																																																																																																																																																																																																																												
SLC26A4	0	broad.mit.edu	GRCh37	7	107303838	107303838	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01	TCGA-19-5951-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265715.3:c.262G>A	p.Val88Ile	p.V88I	ENST00000265715	NM_000441.1	88	Gtc/Atc	0			1			A	V/I	uc003vep.2	protein_coding	YES	CCDS5746.1			262/2343									ovary(3)|central_nervous_system(2)|skin(2)	7	c.(262-264)GTC>ATC			Pfam_domain:PF13792,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF33,TIGRFAM_domain:TIGR00815,Transmembrane_helices:TMhelix	pendrin				ENSP00000265715		21-Mar	1.65E-05							0.000121	rs779745819,COSM2156670	21-Mar	.	Pendred_syndrome	ENST00000265715	Transcript	1		regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	ENSG00000091137	g.chr7:107303838G>A	8818			MODERATE		-0.64	neutral	getma.org/?cm=msa&ty=f&p=S26A4_HUMAN&rb=69&re=152&var=V88I	NA	getma.org/?cm=var&var=hg19,7,107303838,G,A&fts=all	V88I	--	--	1																																		LOC286002_uc003veo.3_5'Flank	0,1	1		benign(0.004)	p.V88I	NM_000441	NP_000432		tolerated(1)	0,1	S26A4_HUMAN	SLC26A4	HGNC	O43511	S26A4_HUMAN			Q75MC7_HUMAN,C9JQG1_HUMAN,B7Z266_HUMAN		3	486	+			UPI00001315A4	88			Helical; (Potential).		SNV	SLC26A4,missense_variant,p.Val88Ile,ENST00000265715,NM_000441.1;SLC26A4,missense_variant,p.Val88Ile,ENST00000440056,;SLC26A4-AS1,upstream_gene_variant,,ENST00000440512,;SLC26A4-AS1,upstream_gene_variant,,ENST00000449741,;SLC26A4-AS1,upstream_gene_variant,,ENST00000591896,;SLC26A4-AS1,upstream_gene_variant,,ENST00000587899,;	uc003vep.2	c.262G>A	486/4930	2	2			c.262G>A						7	SNP	c.(262-264)GTC>ATC	19	19			ovary(3)|central_nervous_system(2)|skin(2)	7	Broad	pendrin			107303838	Pendred_syndrome	0.502	ENSG00000091137	14293	g.chr7:107303838G>A	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity							162.743352	KEEP	28	29	-1	34	35	28	29	-1	163.044661	34	35	0.446281	1	0	0	0	0	1	0	0	0	--	--		0	A			LOC286002_uc003veo.3_5'Flank	171	GBM-19-5951-TP	p.V88I	G	GCTTAGTGACGTCATTTCGGG	NM_000441	NP_000432	107303838	O43511	S26A4_HUMAN	0			3	486	+	A	A			Missense_Mutation	88			Helical; (Potential).			
SLC26A5	375611	broad.mit.edu	GRCh37	7	103050930	103050930	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-2567-01	TCGA-06-2567-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306312.3:c.637T>A	p.Phe213Ile	p.F213I	ENST00000306312	NM_198999.2	213	Ttt/Att	0			1			T	F/I	uc003vbz.2	protein_coding	YES	CCDS5733.1			637/2235									ovary(1)	1	c.(637-639)TTT>ATT			Pfam_domain:PF00916,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF32,TIGRFAM_domain:TIGR00815,Transmembrane_helices:TMhelix	prestin isoform a				ENSP00000304783		20-Jul									COSM2153045,COSM2153046,COSM2153047	20-Jul	.		ENST00000306312	Transcript	1		regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	ENSG00000170615	g.chr7:103050930A>T	9359			MODERATE		2.94	medium	getma.org/?cm=msa&ty=f&p=S26A5_HUMAN&rb=193&re=471&var=F213I	NA	getma.org/?cm=var&var=hg19,7,103050930,A,T&fts=all	F213I	--	--	1																																		SLC26A5_uc003vbt.1_Missense_Mutation_p.F213I|SLC26A5_uc003vbu.1_Missense_Mutation_p.F213I|SLC26A5_uc003vbv.1_Missense_Mutation_p.F213I|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.F213I|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	1,1,1	1		benign(0.208)	p.F213I	NM_198999	NP_945350		deleterious(0)	1,1,1	S26A5_HUMAN	SLC26A5	HGNC	P58743	S26A5_HUMAN			Q496J1_HUMAN		7	873	-			UPI0000132195	213			Helical; Name=5; (Potential).		SNV	SLC26A5,missense_variant,p.Phe213Ile,ENST00000306312,NM_198999.2;SLC26A5,missense_variant,p.Phe213Ile,ENST00000432958,NM_001167962.1;SLC26A5,missense_variant,p.Phe213Ile,ENST00000393730,;SLC26A5,missense_variant,p.Phe213Ile,ENST00000339444,NM_206883.2;SLC26A5,missense_variant,p.Phe176Ile,ENST00000393729,;SLC26A5,missense_variant,p.Phe213Ile,ENST00000393727,;SLC26A5,missense_variant,p.Phe213Ile,ENST00000393723,;SLC26A5,missense_variant,p.Phe213Ile,ENST00000393735,NM_206884.2;SLC26A5,missense_variant,p.Phe213Ile,ENST00000356767,NM_206885.2;SLC26A5,5_prime_UTR_variant,,ENST00000354356,;SLC26A5,missense_variant,p.Phe213Ile,ENST00000423416,;SLC26A5,missense_variant,p.Phe176Ile,ENST00000456463,;SLC26A5,missense_variant,p.Phe213Ile,ENST00000445809,;SLC26A5,missense_variant,p.Phe213Ile,ENST00000454864,;SLC26A5,non_coding_transcript_exon_variant,,ENST00000487407,;	uc003vbz.2	c.637T>A	899/2689	2	2			c.637T>A						7	SNP	c.(637-639)TTT>ATT	34	34			ovary(1)	1	Broad	prestin isoform a			103050930		0.408	ENSG00000170615	14294	g.chr7:103050930A>T	regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity							85.775498	KEEP	21	15	-1	45	45	21	15	-1	90.699466	45	45	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC26A5_uc003vbt.1_Missense_Mutation_p.F213I|SLC26A5_uc003vbu.1_Missense_Mutation_p.F213I|SLC26A5_uc003vbv.1_Missense_Mutation_p.F213I|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.F213I|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	89	GBM-06-2567-TP	p.F213I	A	GCGGTGGTAAACCCACGGACC	NM_198999	NP_945350	103050930	P58743	S26A5_HUMAN	0			7	873	-	T	T			Missense_Mutation	213			Helical; Name=5; (Potential).			
SLC26A5	375611	broad.mit.edu	GRCh37	7	103014906	103014906	+	synonymous_variant	Silent	SNP	C	C	A	rs138320783	byFrequency	TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306312.3:c.2175G>T	p.Ser725=	p.S725=	ENST00000306312	NM_198999.2	725	tcG/tcT	0			1			A	S	uc003vbz.2	protein_coding	YES	CCDS5733.1			2175/2235									ovary(1)	1	c.(2173-2175)TCG>TCT			hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF32	prestin isoform a				ENSP00000304783		20/20									COSM3411420	20/20	.		ENST00000306312	Transcript	1		regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	ENSG00000170615	g.chr7:103014906C>A	9359			LOW								--	--	1																																		SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Silent_p.S693S|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	1	1			p.S725S	NM_198999	NP_945350			1	S26A5_HUMAN	SLC26A5	HGNC	P58743	S26A5_HUMAN			Q496J1_HUMAN		20	2411	-			UPI0000132195	725			Cytoplasmic (Potential).		SNV	SLC26A5,synonymous_variant,p.=,ENST00000306312,NM_198999.2;SLC26A5,synonymous_variant,p.=,ENST00000432958,NM_001167962.1;SLC26A5,synonymous_variant,p.=,ENST00000393730,;SLC26A5,synonymous_variant,p.=,ENST00000393729,;SLC26A5,synonymous_variant,p.=,ENST00000354356,;SLC26A5,synonymous_variant,p.=,ENST00000393727,;SLC26A5,synonymous_variant,p.=,ENST00000393723,;SLC26A5,intron_variant,,ENST00000339444,NM_206883.2;SLC26A5,intron_variant,,ENST00000393735,NM_206884.2;SLC26A5,intron_variant,,ENST00000356767,NM_206885.2;SLC26A5,3_prime_UTR_variant,,ENST00000423416,;SLC26A5,3_prime_UTR_variant,,ENST00000456463,;SLC26A5,3_prime_UTR_variant,,ENST00000445809,;SLC26A5,3_prime_UTR_variant,,ENST00000454864,;	uc003vbz.2	c.2175G>T	2437/2689	2	2			c.2175G>T						7	SNP	c.(2173-2175)TCG>TCT	26	26			ovary(1)	1	Broad	prestin isoform a			103014906		0.532	ENSG00000170615	14294	g.chr7:103014906C>A	regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity							-20.442234	KEEP	2	2	0.5	56	63	2	2	0.5	6.869127	56	63	0.034483	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Silent_p.S693S|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	102	GBM-06-5858-TP	p.S725S	C	AAGGGGGAGCCGAGGCTTCCT	NM_198999	NP_945350	103014906	P58743	S26A5_HUMAN	0			20	2411	-	A	A			Silent	725			Cytoplasmic (Potential).			
SLC26A5	0	broad.mit.edu	GRCh37	7	103048353	103048353	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-12-5295-01	TCGA-12-5295-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306312.3:c.833T>A	p.Phe278Tyr	p.F278Y	ENST00000306312	NM_198999.2	278	tTt/tAt	0			1			T	F/Y	uc003vbz.2	protein_coding	YES	CCDS5733.1			833/2235									ovary(1)	1	c.(832-834)TTT>TAT			Pfam_domain:PF00916,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF32,TIGRFAM_domain:TIGR00815	prestin isoform a				ENSP00000304783		20-Aug									COSM3411421,COSM3411422,COSM3411423	20-Aug	.		ENST00000306312	Transcript	1		regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	ENSG00000170615	g.chr7:103048353A>T	9359			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=S26A5_HUMAN&rb=193&re=471&var=F278Y	NA	getma.org/?cm=var&var=hg19,7,103048353,A,T&fts=all	F278Y	--	--	1																																		SLC26A5_uc003vbt.1_Missense_Mutation_p.F278Y|SLC26A5_uc003vbu.1_Missense_Mutation_p.F278Y|SLC26A5_uc003vbv.1_Missense_Mutation_p.F278Y|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.F278Y|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	1,1,1	1		probably_damaging(0.994)	p.F278Y	NM_198999	NP_945350		deleterious(0)	1,1,1	S26A5_HUMAN	SLC26A5	HGNC	P58743	S26A5_HUMAN			Q496J1_HUMAN		8	1069	-			UPI0000132195	278			Cytoplasmic (Potential).		SNV	SLC26A5,missense_variant,p.Phe278Tyr,ENST00000306312,NM_198999.2;SLC26A5,missense_variant,p.Phe278Tyr,ENST00000432958,NM_001167962.1;SLC26A5,missense_variant,p.Phe278Tyr,ENST00000393730,;SLC26A5,missense_variant,p.Phe278Tyr,ENST00000339444,NM_206883.2;SLC26A5,missense_variant,p.Phe241Tyr,ENST00000393729,;SLC26A5,missense_variant,p.Phe278Tyr,ENST00000393727,;SLC26A5,missense_variant,p.Phe278Tyr,ENST00000393723,;SLC26A5,missense_variant,p.Phe278Tyr,ENST00000393735,NM_206884.2;SLC26A5,missense_variant,p.Phe278Tyr,ENST00000356767,NM_206885.2;SLC26A5,5_prime_UTR_variant,,ENST00000354356,;SLC26A5,missense_variant,p.Phe278Tyr,ENST00000423416,;SLC26A5,missense_variant,p.Phe278Tyr,ENST00000454864,;SLC26A5,3_prime_UTR_variant,,ENST00000456463,;SLC26A5,3_prime_UTR_variant,,ENST00000445809,;SLC26A5,non_coding_transcript_exon_variant,,ENST00000487407,;	uc003vbz.2	c.833T>A	1095/2689	2	2			c.833T>A						7	SNP	c.(832-834)TTT>TAT	21	21			ovary(1)	1	Broad	prestin isoform a			103048353		0.468	ENSG00000170615	14294	g.chr7:103048353A>T	regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity							137.058706	KEEP	33	27	-1	86	65	33	27	-1	145.694274	86	65	0.282178	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC26A5_uc003vbt.1_Missense_Mutation_p.F278Y|SLC26A5_uc003vbu.1_Missense_Mutation_p.F278Y|SLC26A5_uc003vbv.1_Missense_Mutation_p.F278Y|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.F278Y|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	129	GBM-12-5295-TP	p.F278Y	A	TCTCTCATTAAACTCCTTGCC	NM_198999	NP_945350	103048353	P58743	S26A5_HUMAN	0			8	1069	-	T	T			Missense_Mutation	278			Cytoplasmic (Potential).			
SLC26A5	0	broad.mit.edu	GRCh37	7	103050961	103050961	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306312.3:c.606C>T	p.Ala202=	p.A202=	ENST00000306312	NM_198999.2	202	gcC/gcT	0			1			A	A	uc003vbz.2	protein_coding	YES	CCDS5733.1			606/2235									ovary(1)	1	c.(604-606)GCC>GCT			Pfam_domain:PF00916,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF32,TIGRFAM_domain:TIGR00815,Transmembrane_helices:TMhelix	prestin isoform a				ENSP00000304783		20-Jul									COSM3411424,COSM3411425,COSM3411426	20-Jul	.		ENST00000306312	Transcript	1		regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	ENSG00000170615	g.chr7:103050961G>A	9359			LOW								--	--	1																																		SLC26A5_uc003vbt.1_Silent_p.A202A|SLC26A5_uc003vbu.1_Silent_p.A202A|SLC26A5_uc003vbv.1_Silent_p.A202A|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Silent_p.A202A|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	1,1,1	1			p.A202A	NM_198999	NP_945350			1,1,1	S26A5_HUMAN	SLC26A5	HGNC	P58743	S26A5_HUMAN			Q496J1_HUMAN		7	842	-			UPI0000132195	202			Helical; Name=4; (Potential).		SNV	SLC26A5,synonymous_variant,p.=,ENST00000306312,NM_198999.2;SLC26A5,synonymous_variant,p.=,ENST00000432958,NM_001167962.1;SLC26A5,synonymous_variant,p.=,ENST00000393730,;SLC26A5,synonymous_variant,p.=,ENST00000339444,NM_206883.2;SLC26A5,synonymous_variant,p.=,ENST00000393729,;SLC26A5,synonymous_variant,p.=,ENST00000393727,;SLC26A5,synonymous_variant,p.=,ENST00000393723,;SLC26A5,synonymous_variant,p.=,ENST00000393735,NM_206884.2;SLC26A5,synonymous_variant,p.=,ENST00000356767,NM_206885.2;SLC26A5,5_prime_UTR_variant,,ENST00000354356,;SLC26A5,synonymous_variant,p.=,ENST00000423416,;SLC26A5,synonymous_variant,p.=,ENST00000456463,;SLC26A5,synonymous_variant,p.=,ENST00000445809,;SLC26A5,synonymous_variant,p.=,ENST00000454864,;SLC26A5,non_coding_transcript_exon_variant,,ENST00000487407,;	uc003vbz.2	c.606C>T	868/2689	2	2			c.606C>T						7	SNP	c.(604-606)GCC>GCT	36	36			ovary(1)	1	Broad	prestin isoform a			103050961		0.408	ENSG00000170615	14294	g.chr7:103050961G>A	regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity							-14.456792	KEEP	2	1	-1	28	67	2	1	-1	6.353176	28	67	0.034091	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC26A5_uc003vbt.1_Silent_p.A202A|SLC26A5_uc003vbu.1_Silent_p.A202A|SLC26A5_uc003vbv.1_Silent_p.A202A|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Silent_p.A202A|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	232	GBM-32-1982-TP	p.A202A	G	TGAGATATATGGCCACAAATC	NM_198999	NP_945350	103050961	P58743	S26A5_HUMAN	0			7	842	-	A	A			Silent	202			Helical; Name=4; (Potential).			
SLC26A5	375611		GRCh37	7	103032068	103032068	+	splice_donor_variant	Splice_Site	SNP	C	C	T			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000306312.3:c.1233+1G>A		p.X411_splice	ENST00000306312	NM_198999.2	411		0																																																																																																																																																																																																																																												
SLC26A7	0	broad.mit.edu	GRCh37	8	92407320	92407320	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276609.3:c.1966G>A	p.Val656Ile	p.V656I	ENST00000276609	NM_052832.2	656	Gtc/Atc	0			1			A	V/I	uc003yex.2	protein_coding		CCDS6254.1			1966/1971									ovary(2)	2	c.(1966-1968)GTC>ATC				solute carrier family 26, member 7 isoform a				ENSP00000276609		19/19	8.24E-06		8.64E-05						rs773402742,COSM3413158	19/19	.		ENST00000276609	Transcript				basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	ENSG00000147606	g.chr8:92407320G>A	14467			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=S26A7_HUMAN&rb=608&re=656&var=V656I	NA	getma.org/?cm=var&var=hg19,8,92407320,G,A&fts=all	V656I	--	--	1																																		SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yfa.2_Missense_Mutation_p.V656I	0,1			benign(0.002)	p.V656I	NM_052832	NP_439897		tolerated_low_confidence(0.12)	0,1	S26A7_HUMAN	SLC26A7	HGNC	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		E5RFH2_HUMAN		20	2244	+			UPI0000046B1E	656			Cytoplasmic (Potential).|Membrane targeting.		SNV	SLC26A7,missense_variant,p.Val656Ile,ENST00000276609,NM_052832.2,NM_001282356.1;SLC26A7,missense_variant,p.Val656Ile,ENST00000523719,;SLC26A7,downstream_gene_variant,,ENST00000309536,NM_134266.1;SLC26A7,non_coding_transcript_exon_variant,,ENST00000520249,;SLC26A7,downstream_gene_variant,,ENST00000517930,;SLC26A7,3_prime_UTR_variant,,ENST00000522181,;	uc003yex.2	c.1966G>A	2205/5263	1	1			c.1966G>A						8	SNP	c.(1966-1968)GTC>ATC	62	62			ovary(2)	2	Broad	solute carrier family 26, member 7 isoform a			92407320		0.393	ENSG00000147606	14296	g.chr8:92407320G>A		basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity							-20.673685	KEEP	12	10	-1	173	154	12	10	-1	40.035113	173	154	0.06	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yfa.2_Missense_Mutation_p.V656I	142	GBM-14-1034-TP	p.V656I	G	CCACAGTGAAGTCTGAGACCC	NM_052832	NP_439897	92407320	Q8TE54	S26A7_HUMAN	0	BRCA - Breast invasive adenocarcinoma(11;0.00802)		20	2244	+	A	A			Missense_Mutation	656			Cytoplasmic (Potential).|Membrane targeting.			
SLC26A8	116369	broad.mit.edu	GRCh37	6	35923059	35923059	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01	TCGA-06-2564-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000490799.1:c.2102C>T	p.Ala701Val	p.A701V	ENST00000490799	NM_052961.3	701	gCg/gTg	0			1			A	A/V	uc003olm.2	protein_coding		CCDS4813.1			2102/2913									ovary(2)	2	c.(2101-2103)GCG>GTG			Pfam_domain:PF01740,PROSITE_profiles:PS50801,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF11	solute carrier family 26, member 8 isoform a				ENSP00000347778		17/20	2.47E-05					4.50E-05			rs772520541,COSM2152923	17/20	.		ENST00000355574	Transcript	1		cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	ENSG00000112053	g.chr6:35923059G>A	14468			MODERATE		1.32	low	getma.org/?cm=msa&ty=f&p=S26A8_HUMAN&rb=544&re=791&var=A701V	NA	getma.org/?cm=var&var=hg19,6,35923059,G,A&fts=all	A701V	--	--	1																																		SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Missense_Mutation_p.A283V|SLC26A8_uc003oln.2_Missense_Mutation_p.A701V|SLC26A8_uc003oll.2_Missense_Mutation_p.A596V	0,1			benign(0.036)	p.A701V	NM_052961	NP_443193		tolerated(0.16)	0,1	S26A8_HUMAN	SLC26A8	HGNC	Q96RN1	S26A8_HUMAN					17	2213	-			UPI00000739C0	701			Interaction with RACGAP1.|STAS.|Cytoplasmic (Potential).		SNV	SLC26A8,missense_variant,p.Ala701Val,ENST00000490799,NM_052961.3;SLC26A8,missense_variant,p.Ala701Val,ENST00000355574,NM_001193476.1;SLC26A8,missense_variant,p.Ala596Val,ENST00000394602,NM_138718.2;SLC26A8,missense_variant,p.Ala253Val,ENST00000465492,;SLC26A8,non_coding_transcript_exon_variant,,ENST00000466805,;SLC26A8,downstream_gene_variant,,ENST00000486155,;	uc003olm.2	c.2102C>T	2273/3463	2	2			c.2102C>T						6	SNP	c.(2101-2103)GCG>GTG	29	29			ovary(2)	2	Broad	solute carrier family 26, member 8 isoform a			35923059		0.502	ENSG00000112053	14297	g.chr6:35923059G>A	cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity							138.835329	KEEP	23	28	-1	45	42	23	28	-1	140.963129	45	42	0.365672	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Missense_Mutation_p.A283V|SLC26A8_uc003oln.2_Missense_Mutation_p.A701V|SLC26A8_uc003oll.2_Missense_Mutation_p.A596V	87	GBM-06-2564-TP	p.A701V	G	CTGGCTTTCCGCCACATCAGG	NM_052961	NP_443193	35923059	Q96RN1	S26A8_HUMAN	0			17	2213	-	A	A			Missense_Mutation	701			Interaction with RACGAP1.|STAS.|Cytoplasmic (Potential).			
SLC26A8	0	broad.mit.edu	GRCh37	6	35980127	35980127	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6192-01	TCGA-76-6192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355574.2:c.211C>T	p.Arg71Ter	p.R71*	ENST00000355574	NM_001193476.1	71	Cga/Tga	0			1			A	R/*	uc003olm.2	protein_coding		CCDS4813.1			211/2913									ovary(2)	2	c.(211-213)CGA>TGA			hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF11	solute carrier family 26, member 8 isoform a				ENSP00000347778		20-Mar	3.29E-05					6.01E-05			rs201650524,COSM1078461	20-Mar	.		ENST00000355574	Transcript	1		cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	ENSG00000112053	g.chr6:35980127G>A	14468			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,6,35980127,G,A&fts=all	R71*	--	--	1																																		SLC26A8_uc003oln.2_Nonsense_Mutation_p.R71*|SLC26A8_uc003oll.2_Nonsense_Mutation_p.R71*	0,1				p.R71*	NM_052961	NP_443193			0,1	S26A8_HUMAN	SLC26A8	HGNC	Q96RN1	S26A8_HUMAN					3	322	-			UPI00000739C0	71			Cytoplasmic (Potential).		SNV	SLC26A8,stop_gained,p.Arg71Ter,ENST00000490799,NM_052961.3;SLC26A8,stop_gained,p.Arg71Ter,ENST00000355574,NM_001193476.1;SLC26A8,stop_gained,p.Arg71Ter,ENST00000394602,NM_138718.2;SLC26A8,stop_gained,p.Arg157Ter,ENST00000480663,;SLC26A8,non_coding_transcript_exon_variant,,ENST00000486155,;SLC26A8,intron_variant,,ENST00000469847,;	uc003olm.2	c.211C>T	382/3463	5	1			c.211C>T						6	SNP	c.(211-213)CGA>TGA	50	50			ovary(2)	2	Broad	solute carrier family 26, member 8 isoform a			35980127		0.468	ENSG00000112053	14297	g.chr6:35980127G>A	cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity							91.414333	KEEP	25	17	-1	41	53	25	17	-1	96.477466	41	53	0.288	1	0	0	0	0	0	1	0	0	--	--		0	A			SLC26A8_uc003oln.2_Nonsense_Mutation_p.R71*|SLC26A8_uc003oll.2_Nonsense_Mutation_p.R71*	275	GBM-76-6192-TP	p.R71*	G	AGCACGCATCGTAGGAACCTG	NM_052961	NP_443193	35980127	Q96RN1	S26A8_HUMAN	0			3	322	-	A	A			Nonsense_Mutation	71			Cytoplasmic (Potential).			
SLC26A9	0	broad.mit.edu	GRCh37	1	205897957	205897957	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A			TCGA-06-6695-01	TCGA-06-6695-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367135.3:c.951C>T	p.Arg317=	p.R317=	ENST00000367135	NM_052934.3	317	cgC/cgT	0			1			A	R	uc001hdq.2	protein_coding		CCDS30990.1			951/2376									ovary(1)|skin(1)	2	c.(949-951)CGC>CGT			Pfam_domain:PF00916,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF17,TIGRFAM_domain:TIGR00815	solute carrier family 26, member 9 isoform a				ENSP00000356103		21-Aug	0.000132					0.00012		0.000484	rs760498151,COSM1338252,COSM1338251	21-Aug	common_variant		ENST00000367135	Transcript				integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	ENSG00000174502	g.chr1:205897957G>A	14469			LOW								--	--	1																																		SLC26A9_uc001hdo.2_5'Flank|SLC26A9_uc001hdp.2_Silent_p.R317R	0,1,1				p.R317R	NM_052934	NP_443166			0,1,1	S26A9_HUMAN	SLC26A9	HGNC	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)				8	1065	-	Breast(84;0.201)		UPI000014028B	317					SNV	SLC26A9,splice_region_variant,p.=,ENST00000367135,NM_052934.3;SLC26A9,splice_region_variant,p.=,ENST00000367134,NM_134325.2;SLC26A9,splice_region_variant,p.=,ENST00000340781,;SLC26A9,splice_region_variant,,ENST00000469392,;SLC26A9,upstream_gene_variant,,ENST00000491127,;SLC26A9,upstream_gene_variant,,ENST00000461505,;	uc001hdq.2	c.951C>T	1065/4799	1	1			c.951C>T						1	SNP	c.(949-951)CGC>CGT	50	50			ovary(1)|skin(1)	2	Broad	solute carrier family 26, member 9 isoform a			205897957		0.577	ENSG00000174502	14298	g.chr1:205897957G>A		integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity							42.530866	KEEP	7	12	-1	21	29	7	12	-1	44.673191	21	29	0.3	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC26A9_uc001hdo.2_5'Flank|SLC26A9_uc001hdp.2_Silent_p.R317R	110	GBM-06-6695-TP	p.R317R	G	GGACTCACCCGCGTTGGATTT	NM_052934	NP_443166	205897957	Q7LBE3	S26A9_HUMAN	0	BRCA - Breast invasive adenocarcinoma(75;0.0458)		8	1065	-	A	A	Breast(84;0.201)		Silent	317						
SLC26A9	0	broad.mit.edu	GRCh37	1	205890886	205890886	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-2518-01	TCGA-27-2518-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367135.3:c.1863C>T	p.Ser621=	p.S621=	ENST00000367135	NM_052934.3	621	agC/agT	0	A:0.0002		1			A	S	uc001hdq.2	protein_coding		CCDS30990.1			1863/2376									ovary(1)|skin(1)	2	c.(1861-1863)AGC>AGT			Pfam_domain:PF01740,PROSITE_profiles:PS50801,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF17,TIGRFAM_domain:TIGR00815	solute carrier family 26, member 9 isoform a			A:0	ENSP00000356103		17/21	4.12E-05	0.000178						9.43E-05	rs375116397,COSM3400236,COSM3400235	17/21	.		ENST00000367135	Transcript				integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	ENSG00000174502	g.chr1:205890886G>A	14469			LOW								--	--	1																																		SLC26A9_uc001hdo.2_Silent_p.S289S|SLC26A9_uc001hdp.2_Silent_p.S621S	0,1,1				p.S621S	NM_052934	NP_443166			0,1,1	S26A9_HUMAN	SLC26A9	HGNC	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)				17	1977	-	Breast(84;0.201)		UPI000014028B	621			STAS.		SNV	SLC26A9,synonymous_variant,p.=,ENST00000367135,NM_052934.3;SLC26A9,synonymous_variant,p.=,ENST00000367134,NM_134325.2;SLC26A9,synonymous_variant,p.=,ENST00000340781,;SLC26A9,non_coding_transcript_exon_variant,,ENST00000491127,;SLC26A9,downstream_gene_variant,,ENST00000461505,;	uc001hdq.2	c.1863C>T	1977/4799	1	1			c.1863C>T						1	SNP	c.(1861-1863)AGC>AGT	55	55			ovary(1)|skin(1)	2	Broad	solute carrier family 26, member 9 isoform a			205890886		0.642	ENSG00000174502	14298	g.chr1:205890886G>A		integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity							26.576053	KEEP	7	6	-1	7	9	7	6	-1	26.618938	7	9	0.45	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC26A9_uc001hdo.2_Silent_p.S289S|SLC26A9_uc001hdp.2_Silent_p.S621S	198	GBM-27-2518-TP	p.S621S	G	TATAGGACACGCTGGTGCCGT	NM_052934	NP_443166	205890886	Q7LBE3	S26A9_HUMAN	0	BRCA - Breast invasive adenocarcinoma(75;0.0458)		17	1977	-	A	A	Breast(84;0.201)		Silent	621			STAS.			
SLC27A1	376497	broad.mit.edu	GRCh37	19	17612106	17612106	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252595.7:c.1661C>T	p.Ala554Val	p.A554V	ENST00000252595	NM_198580.1	554	gCg/gTg	0			1			T	A/V	uc002ngu.1	protein_coding	YES	CCDS32953.1			1661/1941										0	c.(1660-1662)GCG>GTG			Gene3D:3.30.300.30,Pfam_domain:PF13193,hmmpanther:PTHR24096,hmmpanther:PTHR24096:SF148,Superfamily_domains:SSF56801	solute carrier family 27, member 1				ENSP00000252595		12-Nov	4.12E-05					7.60E-05			rs757218318,COSM3403920,COSM3403919	12-Nov	.		ENST00000252595	Transcript			cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	ENSG00000130304	g.chr19:17612106C>T	10995			MODERATE		2.35	medium	getma.org/?cm=msa&ty=f&p=S27A1_HUMAN&rb=540&re=646&var=A554V	NA	getma.org/?cm=var&var=hg19,19,17612106,C,T&fts=all	A554V	--	--	1																																		SLC27A1_uc010xpp.1_Missense_Mutation_p.A375V|SLC27A1_uc002ngv.1_Missense_Mutation_p.A156V	0,1,1	1		possibly_damaging(0.632)	p.A554V	NM_198580	NP_940982		deleterious(0.04)	0,1,1	S27A1_HUMAN	SLC27A1	HGNC	Q6PCB7	S27A1_HUMAN					11	1711	+			UPI0000038E7F	554			Cytoplasmic (Potential).		SNV	SLC27A1,missense_variant,p.Ala554Val,ENST00000252595,NM_198580.1;SLC27A1,missense_variant,p.Ala375Val,ENST00000598424,;SLC27A1,missense_variant,p.Ala554Val,ENST00000442725,;SLC27A1,intron_variant,,ENST00000599965,;CTD-3131K8.2,intron_variant,,ENST00000596643,;CTD-3131K8.2,downstream_gene_variant,,ENST00000595116,;SLC27A1,intron_variant,,ENST00000598848,;SLC27A1,non_coding_transcript_exon_variant,,ENST00000594962,;SLC27A1,downstream_gene_variant,,ENST00000599380,;SLC27A1,downstream_gene_variant,,ENST00000600277,;SLC27A1,downstream_gene_variant,,ENST00000593701,;	uc002ngu.1	c.1661C>T	1758/3594	2	2			c.1661C>T						19	SNP	c.(1660-1662)GCG>GTG	22	22				0	Broad	solute carrier family 27, member 1			17612106		0.647	ENSG00000130304	14299	g.chr19:17612106C>T	cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding							8.433566	KEEP	5	5	-1	40	38	5	5	-1	19.703924	40	38	0.115385	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC27A1_uc010xpp.1_Missense_Mutation_p.A375V|SLC27A1_uc002ngv.1_Missense_Mutation_p.A156V	102	GBM-06-5858-TP	p.A554V	C	GCAGGGATGGCGGCCGTCGCA	NM_198580	NP_940982	17612106	Q6PCB7	S27A1_HUMAN	0			11	1711	+	T	T			Missense_Mutation	554			Cytoplasmic (Potential).			
SLC27A2	11001	broad.mit.edu	GRCh37	15	50528151	50528151	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267842.5:c.1721G>A	p.Arg574His	p.R574H	ENST00000267842	NM_003645.3	574	cGc/cAc	0			1			A	R/H	uc001zxw.2	protein_coding	YES	CCDS10133.1			1721/1863									ovary(1)|skin(1)	2	c.(1720-1722)CGC>CAC			hmmpanther:PTHR24096,hmmpanther:PTHR24096:SF127,Gene3D:3.30.300.30,Superfamily_domains:SSF56801	solute carrier family 27 (fatty acid				ENSP00000267842		10-Oct	1.65E-05	9.61E-05						6.07E-05	rs751269575,COSM3401800	10-Oct	.		ENST00000267842	Transcript			bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	ENSG00000140284	g.chr15:50528151G>A	10996			MODERATE		3.21	medium	getma.org/?cm=msa&ty=f&p=S27A2_HUMAN&rb=513&re=620&var=R574H	NA	getma.org/?cm=var&var=hg19,15,50528151,G,A&fts=all	R574H	--	--	1																																		SLC27A2_uc010bes.2_Missense_Mutation_p.R521H|SLC27A2_uc001zxx.2_Missense_Mutation_p.R339H	0,1	1		benign(0.288)	p.R574H	NM_003645	NP_003636		tolerated(0.08)	0,1	S27A2_HUMAN	SLC27A2	HGNC	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	G3V1R7_HUMAN		10	1953	+		all_lung(180;0.00177)	UPI000013D776	574			Cytoplasmic (Potential).		SNV	SLC27A2,missense_variant,p.Arg574His,ENST00000267842,NM_003645.3;SLC27A2,missense_variant,p.Arg521His,ENST00000380902,NM_001159629.1;SLC27A2,missense_variant,p.Arg339His,ENST00000544960,;	uc001zxw.2	c.1721G>A	1953/2394	1	1			c.1721G>A						15	SNP	c.(1720-1722)CGC>CAC	59	59			ovary(1)|skin(1)	2	Broad	solute carrier family 27 (fatty acid			50528151		0.418	ENSG00000140284	14300	g.chr15:50528151G>A	bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity							-47.843326	KEEP	5	0	-1	114	117	5	0	-1	6.721524	114	117	0.019048	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC27A2_uc010bes.2_Missense_Mutation_p.R521H|SLC27A2_uc001zxx.2_Missense_Mutation_p.R339H	102	GBM-06-5858-TP	p.R574H	G	TTTAAACACCGCAAAATGACC	NM_003645	NP_003636	50528151	O14975	S27A2_HUMAN	0		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	10	1953	+	A	A		all_lung(180;0.00177)	Missense_Mutation	574			Cytoplasmic (Potential).			
SLC27A2	0	broad.mit.edu	GRCh37	15	50518260	50518260	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01	TCGA-14-0790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267842.5:c.1243G>A	p.Val415Ile	p.V415I	ENST00000267842	NM_003645.3	415	Gtc/Atc	0			1			A	V/I	uc001zxw.2	protein_coding	YES	CCDS10133.1			1243/1863									ovary(1)|skin(1)	2	c.(1243-1245)GTC>ATC			hmmpanther:PTHR24096,hmmpanther:PTHR24096:SF127,Gene3D:2.30.38.10,Pfam_domain:PF00501,Superfamily_domains:SSF56801	solute carrier family 27 (fatty acid				ENSP00000267842		10-Jun	2.47E-05		8.64E-05			1.50E-05		6.06E-05	rs757049403,COSM3401799	10-Jun	.		ENST00000267842	Transcript			bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	ENSG00000140284	g.chr15:50518260G>A	10996			MODERATE		-0.745	neutral	getma.org/?cm=msa&ty=f&p=S27A2_HUMAN&rb=80&re=512&var=V415I	getma.org/pdb.php?prot=S27A2_HUMAN&from=80&to=512&var=V415I	getma.org/?cm=var&var=hg19,15,50518260,G,A&fts=all	V415I	--	--	1																																		SLC27A2_uc010bes.2_Missense_Mutation_p.V362I|SLC27A2_uc001zxx.2_Missense_Mutation_p.V180I	0,1	1		benign(0.005)	p.V415I	NM_003645	NP_003636		tolerated(1)	0,1	S27A2_HUMAN	SLC27A2	HGNC	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	G3V1R7_HUMAN		6	1475	+		all_lung(180;0.00177)	UPI000013D776	415			Cytoplasmic (Potential).		SNV	SLC27A2,missense_variant,p.Val415Ile,ENST00000267842,NM_003645.3;SLC27A2,missense_variant,p.Val362Ile,ENST00000380902,NM_001159629.1;SLC27A2,missense_variant,p.Val180Ile,ENST00000544960,;Y_RNA,downstream_gene_variant,,ENST00000363735,;SLC27A2,non_coding_transcript_exon_variant,,ENST00000559938,;	uc001zxw.2	c.1243G>A	1475/2394	2	2			c.1243G>A						15	SNP	c.(1243-1245)GTC>ATC	47	47			ovary(1)|skin(1)	2	Broad	solute carrier family 27 (fatty acid			50518260		0.353	ENSG00000140284	14300	g.chr15:50518260G>A	bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity							193.565565	KEEP	31	48	-1	56	35	31	48	-1	193.94665	56	35	0.443662	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC27A2_uc010bes.2_Missense_Mutation_p.V362I|SLC27A2_uc001zxx.2_Missense_Mutation_p.V180I	137	GBM-14-0790-TP	p.V415I	G	TGGATATTGCGTCAGAGTTCC	NM_003645	NP_003636	50518260	O14975	S27A2_HUMAN	0		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	6	1475	+	A	A		all_lung(180;0.00177)	Missense_Mutation	415			Cytoplasmic (Potential).			
SLC27A2	0	broad.mit.edu	GRCh37	15	50515253	50515253	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-1456-01	TCGA-14-1456-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267842.5:c.1064A>G	p.Asp355Gly	p.D355G	ENST00000267842	NM_003645.3	355	gAc/gGc	0			1			G	D/G	uc001zxw.2	protein_coding	YES	CCDS10133.1			1064/1863									ovary(1)|skin(1)	2	c.(1063-1065)GAC>GGC			hmmpanther:PTHR24096,hmmpanther:PTHR24096:SF127,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801	solute carrier family 27 (fatty acid				ENSP00000267842		10-May									COSM2155612	10-May	.		ENST00000267842	Transcript			bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	ENSG00000140284	g.chr15:50515253A>G	10996			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=S27A2_HUMAN&rb=80&re=512&var=D355G	getma.org/pdb.php?prot=S27A2_HUMAN&from=80&to=512&var=D355G	getma.org/?cm=var&var=hg19,15,50515253,A,G&fts=all	D355G	--	--	1																																		SLC27A2_uc010bes.2_Missense_Mutation_p.D302G|SLC27A2_uc001zxx.2_Missense_Mutation_p.D120G	1	1		possibly_damaging(0.643)	p.D355G	NM_003645	NP_003636		tolerated(0.07)	1	S27A2_HUMAN	SLC27A2	HGNC	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	G3V1R7_HUMAN		5	1296	+		all_lung(180;0.00177)	UPI000013D776	355			Cytoplasmic (Potential).		SNV	SLC27A2,missense_variant,p.Asp355Gly,ENST00000267842,NM_003645.3;SLC27A2,missense_variant,p.Asp302Gly,ENST00000380902,NM_001159629.1;SLC27A2,missense_variant,p.Asp120Gly,ENST00000544960,;Y_RNA,downstream_gene_variant,,ENST00000363735,;SLC27A2,non_coding_transcript_exon_variant,,ENST00000559938,;	uc001zxw.2	c.1064A>G	1296/2394	3	3			c.1064A>G						15	SNP	c.(1063-1065)GAC>GGC	61	61			ovary(1)|skin(1)	2	Broad	solute carrier family 27 (fatty acid			50515253		0.428	ENSG00000140284	14300	g.chr15:50515253A>G	bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity							206.431857	KEEP	32	36	-1	62	49	32	36	-1	208.469915	62	49	0.381818	1	0	0	0	0	1	0	0	0	--	--		0	G			SLC27A2_uc010bes.2_Missense_Mutation_p.D302G|SLC27A2_uc001zxx.2_Missense_Mutation_p.D120G	146	GBM-14-1456-TP	p.D355G	A	AGATTTGGGGACATATGCATC	NM_003645	NP_003636	50515253	O14975	S27A2_HUMAN	0		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	5	1296	+	G	G		all_lung(180;0.00177)	Missense_Mutation	355			Cytoplasmic (Potential).			
SLC27A2	0	broad.mit.edu	GRCh37	15	50497504	50497504	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs141444028		TCGA-41-4097-01	TCGA-41-4097-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267842.5:c.916G>A	p.Val306Ile	p.V306I	ENST00000267842	NM_003645.3	306	Gtc/Atc	0	A:0.0002	A:0	1	A:0.0014		A	V/I	uc001zxw.2	protein_coding	YES	CCDS10133.1			916/1863									ovary(1)|skin(1)	2	c.(916-918)GTC>ATC			hmmpanther:PTHR24096,hmmpanther:PTHR24096:SF127,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801	solute carrier family 27 (fatty acid		A:0	A:0	ENSP00000267842	A:0	10-Apr	1.65E-05	9.61E-05		0.000116					rs141444028,COSM3401798	10-Apr	.		ENST00000267842	Transcript		A:0.0002	bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	ENSG00000140284	g.chr15:50497504G>A	10996			MODERATE		1.85	low	getma.org/?cm=msa&ty=f&p=S27A2_HUMAN&rb=80&re=512&var=V306I	getma.org/pdb.php?prot=S27A2_HUMAN&from=80&to=512&var=V306I	getma.org/?cm=var&var=hg19,15,50497504,G,A&fts=all	V306I	--	--	1																																		SLC27A2_uc010bes.2_Missense_Mutation_p.V253I|SLC27A2_uc001zxx.2_Missense_Mutation_p.V71I	0,1	1		benign(0.127)	p.V306I	NM_003645	NP_003636	A:0	tolerated(0.08)	0,1	S27A2_HUMAN	SLC27A2	HGNC	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	G3V1R7_HUMAN		4	1148	+		all_lung(180;0.00177)	UPI000013D776	306			Cytoplasmic (Potential).		SNV	SLC27A2,missense_variant,p.Val306Ile,ENST00000267842,NM_003645.3;SLC27A2,missense_variant,p.Val253Ile,ENST00000380902,NM_001159629.1;SLC27A2,missense_variant,p.Val71Ile,ENST00000544960,;SLC27A2,upstream_gene_variant,,ENST00000559938,;	uc001zxw.2	c.916G>A	1148/2394	1	1			c.916G>A						15	SNP	c.(916-918)GTC>ATC	51	51			ovary(1)|skin(1)	2	Broad	solute carrier family 27 (fatty acid			50497504		0.428	ENSG00000140284	14300	g.chr15:50497504G>A	bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity							153.459988	KEEP	25	37	-1	69	94	25	37	-1	162.139052	69	94	0.282927	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC27A2_uc010bes.2_Missense_Mutation_p.V253I|SLC27A2_uc001zxx.2_Missense_Mutation_p.V71I	257	GBM-41-4097-TP	p.V306I	G	AAAATACAACGTCACTGTCAT	NM_003645	NP_003636	50497504	O14975	S27A2_HUMAN	0		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	4	1148	+	A	A		all_lung(180;0.00177)	Missense_Mutation	306			Cytoplasmic (Potential).			
SLC27A2	0	broad.mit.edu	GRCh37	15	50475097	50475097	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6282-01	TCGA-76-6282-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267842.5:c.473C>T	p.Ser158Leu	p.S158L	ENST00000267842	NM_003645.3	158	tCg/tTg	0			1			T	S/L	uc001zxw.2	protein_coding	YES	CCDS10133.1			473/1863									ovary(1)|skin(1)	2	c.(472-474)TCG>TTG			hmmpanther:PTHR24096,hmmpanther:PTHR24096:SF127,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801	solute carrier family 27 (fatty acid				ENSP00000267842		10-Jan									COSM3401796	10-Jan	.		ENST00000267842	Transcript			bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	ENSG00000140284	g.chr15:50475097C>T	10996			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=S27A2_HUMAN&rb=80&re=512&var=S158L	getma.org/pdb.php?prot=S27A2_HUMAN&from=80&to=512&var=S158L	getma.org/?cm=var&var=hg19,15,50475097,C,T&fts=all	S158L	--	--	1																																		SLC27A2_uc010bes.2_Missense_Mutation_p.S158L	1	1		benign(0.329)	p.S158L	NM_003645	NP_003636		deleterious(0.02)	1	S27A2_HUMAN	SLC27A2	HGNC	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	G3V1R7_HUMAN		1	705	+		all_lung(180;0.00177)	UPI000013D776	158			Lumenal (Potential).		SNV	SLC27A2,missense_variant,p.Ser158Leu,ENST00000267842,NM_003645.3;SLC27A2,missense_variant,p.Ser158Leu,ENST00000380902,NM_001159629.1;ATP8B4,upstream_gene_variant,,ENST00000558829,;	uc001zxw.2	c.473C>T	705/2394	2	2			c.473C>T						15	SNP	c.(472-474)TCG>TTG	17	17			ovary(1)|skin(1)	2	Broad	solute carrier family 27 (fatty acid			50475097		0.652	ENSG00000140284	14300	g.chr15:50475097C>T	bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity							126.822404	KEEP	26	27	-1	39	47	26	27	-1	128.634153	39	47	0.370968	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC27A2_uc010bes.2_Missense_Mutation_p.S158L	278	GBM-76-6282-TP	p.S158L	C	CTGCTGGTGTCGCCAGGTGAG	NM_003645	NP_003636	50475097	O14975	S27A2_HUMAN	0		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	1	705	+	T	T		all_lung(180;0.00177)	Missense_Mutation	158			Lumenal (Potential).			
SLC27A6	28965	broad.mit.edu	GRCh37	5	128301930	128301930	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01	TCGA-02-0055-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262462.4:c.100G>A	p.Val34Met	p.V34M	ENST00000262462		34	Gtg/Atg	0			1			A	V/M	uc003kuy.2	protein_coding	YES	CCDS4145.1			100/1860										0	c.(100-102)GTG>ATG			hmmpanther:PTHR24096:SF98,hmmpanther:PTHR24096,Superfamily_domains:SSF56801	solute carrier family 27 (fatty acid				ENSP00000262462		10-Jan	8.24E-06					1.51E-05			rs748879688,COSM3409708	10-Jan	.		ENST00000262462	Transcript			long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	ENSG00000113396	g.chr5:128301930G>A	11000			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=S27A6_HUMAN&rb=1&re=80&var=V34M	NA	getma.org/?cm=var&var=hg19,5,128301930,G,A&fts=all	V34M	--	--	1																																		SLC27A6_uc003kuz.2_Missense_Mutation_p.V34M	0,1	1		benign(0.002)	p.V34M	NM_014031	NP_054750		tolerated(0.1)	0,1	S27A6_HUMAN	SLC27A6	HGNC	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	D6RAJ2_HUMAN		2	496	+		all_cancers(142;0.0483)|Prostate(80;0.055)	UPI0000038E83	34			Helical; (Potential).		SNV	SLC27A6,missense_variant,p.Val34Met,ENST00000262462,;SLC27A6,missense_variant,p.Val34Met,ENST00000395266,NM_001017372.1,NM_014031.3;SLC27A6,missense_variant,p.Val34Met,ENST00000506176,;SLC27A6,intron_variant,,ENST00000508645,;	uc003kuy.2	c.100G>A	1110/3219	2	2			c.100G>A						5	SNP	c.(100-102)GTG>ATG	45	45				0	Broad	solute carrier family 27 (fatty acid			128301930		0.463	ENSG00000113396	14304	g.chr5:128301930G>A	long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding							57.599846	KEEP	19	18	-1	101	125	19	18	-1	85.219548	101	125	0.147186	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC27A6_uc003kuz.2_Missense_Mutation_p.V34M	4	GBM-02-0055-TP	p.V34M	G	CTTCTGGTTCGTGTTGAAGGT	NM_014031	NP_054750	128301930	Q9Y2P4	S27A6_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	2	496	+	A	A		all_cancers(142;0.0483)|Prostate(80;0.055)	Missense_Mutation	34			Helical; (Potential).			
SLC27A6	28965	broad.mit.edu	GRCh37	5	128302221	128302221	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262462.4:c.391G>A	p.Val131Met	p.V131M	ENST00000262462		131	Gtg/Atg	0			1			A	V/M	uc003kuy.2	protein_coding	YES	CCDS4145.1			391/1860										0	c.(391-393)GTG>ATG			hmmpanther:PTHR24096:SF98,hmmpanther:PTHR24096,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801	solute carrier family 27 (fatty acid				ENSP00000262462		10-Jan									COSM2149635	10-Jan	.		ENST00000262462	Transcript			long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	ENSG00000113396	g.chr5:128302221G>A	11000			MODERATE		2.72	medium	getma.org/?cm=msa&ty=f&p=S27A6_HUMAN&rb=81&re=511&var=V131M	getma.org/pdb.php?prot=S27A6_HUMAN&from=81&to=511&var=V131M	getma.org/?cm=var&var=hg19,5,128302221,G,A&fts=all	V131M	--	--	1																																		SLC27A6_uc003kuz.2_Missense_Mutation_p.V131M	1	1		probably_damaging(0.963)	p.V131M	NM_014031	NP_054750		tolerated(0.08)	1	S27A6_HUMAN	SLC27A6	HGNC	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	D6RAJ2_HUMAN		2	787	+		all_cancers(142;0.0483)|Prostate(80;0.055)	UPI0000038E83	131			Helical; (Potential).		SNV	SLC27A6,missense_variant,p.Val131Met,ENST00000262462,;SLC27A6,missense_variant,p.Val131Met,ENST00000395266,NM_001017372.1,NM_014031.3;SLC27A6,missense_variant,p.Val131Met,ENST00000506176,;SLC27A6,intron_variant,,ENST00000508645,;	uc003kuy.2	c.391G>A	1401/3219	2	2			c.391G>A						5	SNP	c.(391-393)GTG>ATG	47	47				0	Broad	solute carrier family 27 (fatty acid			128302221		0.592	ENSG00000113396	14304	g.chr5:128302221G>A	long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding							51.736059	KEEP	7	13	-1	10	17	7	13	-1	52.054872	10	17	0.409091	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC27A6_uc003kuz.2_Missense_Mutation_p.V131M	18	GBM-06-0137-TP	p.V131M	G	GCTGGGCTGCGTGGTGGCCTT	NM_014031	NP_054750	128302221	Q9Y2P4	S27A6_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	2	787	+	A	A		all_cancers(142;0.0483)|Prostate(80;0.055)	Missense_Mutation	131			Helical; (Potential).			
SLC27A6	0	broad.mit.edu	GRCh37	5	128359401	128359401	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-1977-01	TCGA-32-1977-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262462.4:c.1253A>G	p.Lys418Arg	p.K418R	ENST00000262462		418	aAa/aGa	0			1			G	K/R	uc003kuy.2	protein_coding	YES	CCDS4145.1			1253/1860										0	c.(1252-1254)AAA>AGA			hmmpanther:PTHR24096:SF98,hmmpanther:PTHR24096,Gene3D:2.30.38.10,Pfam_domain:PF00501,Superfamily_domains:SSF56801	solute carrier family 27 (fatty acid				ENSP00000262462		10-Jun									COSM3409709	10-Jun	.		ENST00000262462	Transcript			long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	ENSG00000113396	g.chr5:128359401A>G	11000			MODERATE		0.815	low	getma.org/?cm=msa&ty=f&p=S27A6_HUMAN&rb=81&re=511&var=K418R	getma.org/pdb.php?prot=S27A6_HUMAN&from=81&to=511&var=K418R	getma.org/?cm=var&var=hg19,5,128359401,A,G&fts=all	K418R	--	--	1																																		SLC27A6_uc003kuz.2_Missense_Mutation_p.K418R	1	1		benign(0.057)	p.K418R	NM_014031	NP_054750		tolerated(0.14)	1	S27A6_HUMAN	SLC27A6	HGNC	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	D6RAJ2_HUMAN		7	1649	+		all_cancers(142;0.0483)|Prostate(80;0.055)	UPI0000038E83	418					SNV	SLC27A6,missense_variant,p.Lys418Arg,ENST00000262462,;SLC27A6,missense_variant,p.Lys418Arg,ENST00000395266,NM_001017372.1,NM_014031.3;SLC27A6,missense_variant,p.Lys418Arg,ENST00000506176,;	uc003kuy.2	c.1253A>G	2263/3219	3	3			c.1253A>G						5	SNP	c.(1252-1254)AAA>AGA	50	50				0	Broad	solute carrier family 27 (fatty acid			128359401		0.274	ENSG00000113396	14304	g.chr5:128359401A>G	long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding							39.617774	KEEP	7	10	-1	26	32	7	10	-1	44.280238	26	32	0.21875	1	0	0	0	0	1	0	0	0	--	--		0	G			SLC27A6_uc003kuz.2_Missense_Mutation_p.K418R	229	GBM-32-1977-TP	p.K418R	A	CATGTGAAAAAAGGTAAGACT	NM_014031	NP_054750	128359401	Q9Y2P4	S27A6_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	7	1649	+	G	G		all_cancers(142;0.0483)|Prostate(80;0.055)	Missense_Mutation	418						
SLC27A6	0	broad.mit.edu	GRCh37	5	128368954	128368954	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-6285-01	TCGA-76-6285-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262462.4:c.1839G>T	p.Met613Ile	p.M613I	ENST00000262462		613	atG/atT	0			1			T	M/I	uc003kuy.2	protein_coding	YES	CCDS4145.1			1839/1860										0	c.(1837-1839)ATG>ATT			hmmpanther:PTHR24096:SF98,hmmpanther:PTHR24096	solute carrier family 27 (fatty acid				ENSP00000262462		10-Oct									COSM3409710	10-Oct	.		ENST00000262462	Transcript			long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	ENSG00000113396	g.chr5:128368954G>T	11000			MODERATE		-0.28	neutral	getma.org/?cm=msa&ty=f&p=S27A6_HUMAN&rb=512&re=619&var=M613I	NA	getma.org/?cm=var&var=hg19,5,128368954,G,T&fts=all	M613I	--	--	1																																		SLC27A6_uc003kuz.2_Missense_Mutation_p.M613I	1	1		benign(0.001)	p.M613I	NM_014031	NP_054750		tolerated(0.86)	1	S27A6_HUMAN	SLC27A6	HGNC	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	D6RAJ2_HUMAN		11	2235	+		all_cancers(142;0.0483)|Prostate(80;0.055)	UPI0000038E83	613					SNV	SLC27A6,missense_variant,p.Met613Ile,ENST00000262462,;SLC27A6,missense_variant,p.Met613Ile,ENST00000395266,NM_001017372.1,NM_014031.3;SLC27A6,missense_variant,p.Met613Ile,ENST00000506176,;	uc003kuy.2	c.1839G>T	2849/3219	1	1			c.1839G>T						5	SNP	c.(1837-1839)ATG>ATT	16	16				0	Broad	solute carrier family 27 (fatty acid			128368954		0.318	ENSG00000113396	14304	g.chr5:128368954G>T	long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding							78.716785	KEEP	12	14	0.461538462	27	14	12	14	0.461538462	79.160809	27	14	0.409836	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC27A6_uc003kuz.2_Missense_Mutation_p.M613I	280	GBM-76-6285-TP	p.M613I	G	ATCAAATAATGTTAGGGGAAA	NM_014031	NP_054750	128368954	Q9Y2P4	S27A6_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	11	2235	+	T	T		all_cancers(142;0.0483)|Prostate(80;0.055)	Missense_Mutation	613						
SLC28A1	0	broad.mit.edu	GRCh37	15	85448820	85448820	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-16-0846-01	TCGA-16-0846-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286749.3:c.654A>T	p.Gly218=	p.G218=	ENST00000286749	NM_001287762.1	218	ggA/ggT	0			1			T	G	uc002blg.2	protein_coding		CCDS10334.1			654/1950									skin(2)|ovary(1)	3	c.(652-654)GGA>GGT			Pfam_domain:PF01773,hmmpanther:PTHR10590,hmmpanther:PTHR10590:SF12,Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR00804,Transmembrane_helices:TMhelix	solute carrier family 28, member 1 isoform 1				ENSP00000286749		18-Jul	8.24E-06							6.06E-05	rs760883725,COSM3401975,COSM3401976	18-Jul	.		ENST00000286749	Transcript			nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	ENSG00000156222	g.chr15:85448820A>T	11001			LOW								--	--	1																																		SLC28A1_uc010upd.1_Silent_p.G140G|SLC28A1_uc010bnb.2_Silent_p.G218G|SLC28A1_uc010upe.1_Silent_p.G218G|SLC28A1_uc010upf.1_Silent_p.G218G|SLC28A1_uc010upg.1_Silent_p.G218G	0,1,1				p.G218G	NM_004213	NP_004204			0,1,1	S28A1_HUMAN	SLC28A1	HGNC	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)				8	856	+			UPI000013DE67	218			Helical; (Potential).		SNV	SLC28A1,synonymous_variant,p.=,ENST00000394573,NM_004213.3;SLC28A1,synonymous_variant,p.=,ENST00000286749,NM_001287762.1;SLC28A1,synonymous_variant,p.=,ENST00000537624,;SLC28A1,synonymous_variant,p.=,ENST00000537216,;SLC28A1,synonymous_variant,p.=,ENST00000538177,NM_001287761.1;SLC28A1,synonymous_variant,p.=,ENST00000537703,;	uc002blg.2	c.654A>T	744/2636	2	2			c.654A>T						15	SNP	c.(652-654)GGA>GGT	22	22			skin(2)|ovary(1)	3	Broad	solute carrier family 28, member 1 isoform 1			85448820		0.567	ENSG00000156222	14305	g.chr15:85448820A>T	nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding							8.755121	KEEP	8	2	-1	47	24	8	2	-1	18.771203	47	24	0.115942	1	0	0	0	0	0	0	1	0	--	--		0	T			SLC28A1_uc010upd.1_Silent_p.G140G|SLC28A1_uc010bnb.2_Silent_p.G218G|SLC28A1_uc010upe.1_Silent_p.G218G|SLC28A1_uc010upf.1_Silent_p.G218G|SLC28A1_uc010upg.1_Silent_p.G218G	155	GBM-16-0846-TP	p.G218G	A	TTGTACTTGGACTCCTCGTCA	NM_004213	NP_004204	85448820	O00337	S28A1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(143;0.0587)		8	856	+	T	T			Silent	218			Helical; (Potential).			
SLC28A1	0	broad.mit.edu	GRCh37	15	85476431	85476431	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01	TCGA-19-2629-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286749.3:c.1139C>T	p.Ala380Val	p.A380V	ENST00000286749	NM_001287762.1	380	gCc/gTc	0			1			T	A/V	uc002blg.2	protein_coding		CCDS10334.1			1139/1950									skin(2)|ovary(1)	3	c.(1138-1140)GCC>GTC			Pfam_domain:PF07662,hmmpanther:PTHR10590,hmmpanther:PTHR10590:SF12,TIGRFAM_domain:TIGR00804,Transmembrane_helices:TMhelix	solute carrier family 28, member 1 isoform 1				ENSP00000286749		18-Dec									COSM3401977,COSM3401978	18-Dec	.		ENST00000286749	Transcript			nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	ENSG00000156222	g.chr15:85476431C>T	11001			MODERATE		1.675	low	getma.org/?cm=msa&ty=f&p=S28A1_HUMAN&rb=366&re=591&var=A380V	getma.org/pdb.php?prot=S28A1_HUMAN&from=366&to=591&var=A380V	getma.org/?cm=var&var=hg19,15,85476431,C,T&fts=all	A380V	--	--	1																																		SLC28A1_uc010bnb.2_Missense_Mutation_p.A380V|SLC28A1_uc010upe.1_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.A380V|SLC28A1_uc010upg.1_Missense_Mutation_p.A380V	1,1			probably_damaging(0.966)	p.A380V	NM_004213	NP_004204		deleterious(0)	1,1	S28A1_HUMAN	SLC28A1	HGNC	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)				13	1341	+			UPI000013DE67	380			Helical; (Potential).		SNV	SLC28A1,missense_variant,p.Ala380Val,ENST00000394573,NM_004213.3;SLC28A1,missense_variant,p.Ala380Val,ENST00000286749,NM_001287762.1;SLC28A1,missense_variant,p.Ala380Val,ENST00000537624,;SLC28A1,missense_variant,p.Ala380Val,ENST00000537216,;SLC28A1,intron_variant,,ENST00000538177,NM_001287761.1;	uc002blg.2	c.1139C>T	1229/2636	2	2			c.1139C>T						15	SNP	c.(1138-1140)GCC>GTC	35	35			skin(2)|ovary(1)	3	Broad	solute carrier family 28, member 1 isoform 1			85476431		0.562	ENSG00000156222	14305	g.chr15:85476431C>T	nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding							-33.849717	KEEP	1	4	-1	115	95	1	4	-1	8.655236	115	95	0.028736	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC28A1_uc010bnb.2_Missense_Mutation_p.A380V|SLC28A1_uc010upe.1_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.A380V|SLC28A1_uc010upg.1_Missense_Mutation_p.A380V	166	GBM-19-2629-TP	p.A380V	C	TGTGCCTTGGCCCTCTCCAAG	NM_004213	NP_004204	85476431	O00337	S28A1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(143;0.0587)		13	1341	+	T	T			Missense_Mutation	380			Helical; (Potential).			
SLC28A1	0	broad.mit.edu	GRCh37	15	85478399	85478399	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-2571-01	TCGA-41-2571-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286749.3:c.1357G>A	p.Val453Met	p.V453M	ENST00000286749	NM_001287762.1	453	Gtg/Atg	0			1			A	V/M	uc002blg.2	protein_coding		CCDS10334.1			1357/1950									skin(2)|ovary(1)	3	c.(1357-1359)GTG>ATG			Pfam_domain:PF07662,hmmpanther:PTHR10590,hmmpanther:PTHR10590:SF12,TIGRFAM_domain:TIGR00804	solute carrier family 28, member 1 isoform 1				ENSP00000286749		13/18									COSM3401979,COSM3401980	13/18	.		ENST00000286749	Transcript			nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	ENSG00000156222	g.chr15:85478399G>A	11001			MODERATE		2.495	medium	getma.org/?cm=msa&ty=f&p=S28A1_HUMAN&rb=366&re=591&var=V453M	getma.org/pdb.php?prot=S28A1_HUMAN&from=366&to=591&var=V453M	getma.org/?cm=var&var=hg19,15,85478399,G,A&fts=all	V453M	--	--	1																																		SLC28A1_uc010bnb.2_Missense_Mutation_p.V453M|SLC28A1_uc010upe.1_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.V453M|SLC28A1_uc010upg.1_Missense_Mutation_p.V453M	1,1			possibly_damaging(0.658)	p.V453M	NM_004213	NP_004204		tolerated(0.1)	1,1	S28A1_HUMAN	SLC28A1	HGNC	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)				14	1559	+			UPI000013DE67	453					SNV	SLC28A1,missense_variant,p.Val453Met,ENST00000394573,NM_004213.3;SLC28A1,missense_variant,p.Val453Met,ENST00000286749,NM_001287762.1;SLC28A1,missense_variant,p.Val453Met,ENST00000537624,;SLC28A1,missense_variant,p.Val453Met,ENST00000537216,;SLC28A1,intron_variant,,ENST00000538177,NM_001287761.1;RNU6-339P,downstream_gene_variant,,ENST00000384310,;RNU6-796P,downstream_gene_variant,,ENST00000391086,;	uc002blg.2	c.1357G>A	1447/2636	1	1			c.1357G>A						15	SNP	c.(1357-1359)GTG>ATG	61	61			skin(2)|ovary(1)	3	Broad	solute carrier family 28, member 1 isoform 1			85478399		0.592	ENSG00000156222	14305	g.chr15:85478399G>A	nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding							120.9279	KEEP	29	15	-1	34	31	29	15	-1	121.694102	34	31	0.407767	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC28A1_uc010bnb.2_Missense_Mutation_p.V453M|SLC28A1_uc010upe.1_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.V453M|SLC28A1_uc010upg.1_Missense_Mutation_p.V453M	250	GBM-41-2571-TP	p.V453M	G	GGGAGACATGGTGGACATCCA	NM_004213	NP_004204	85478399	O00337	S28A1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(143;0.0587)		14	1559	+	A	A			Missense_Mutation	453						
SLC28A1	9154		GRCh37	15	85478601	85478601	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000394573.1:c.1433C>T	p.Ala478Val	p.A478V	ENST00000394573	NM_004213.3	478	gCg/gTg	0																																																																																																																																																																																																																																												
SLC28A2	0	broad.mit.edu	GRCh37	15	45555359	45555359	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-1747-01	TCGA-28-1747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000347644.3:c.363G>A	p.Ser121=	p.S121=	ENST00000347644	NM_004212.3	121	tcG/tcA	0			1			A	S	uc001zva.2	protein_coding	YES	CCDS10121.1			363/1977									ovary(4)	4	c.(361-363)TCG>TCA			hmmpanther:PTHR10590,hmmpanther:PTHR10590:SF11,Transmembrane_helices:TMhelix	solute carrier family 28 (sodium-coupled				ENSP00000315006		18-May	2.47E-05					4.50E-05			rs771965795,COSM3401766	18-May	.		ENST00000347644	Transcript			nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	ENSG00000137860	g.chr15:45555359G>A	11002			LOW								--	--	1																																			0,1	1			p.S121S	NM_004212	NP_004203			0,1	S28A2_HUMAN	SLC28A2	HGNC	O43868	S28A2_HUMAN		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)			5	428	+		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	UPI000013D0D5	121			Helical; (Potential).		SNV	SLC28A2,synonymous_variant,p.=,ENST00000347644,NM_004212.3;SLC28A2,synonymous_variant,p.=,ENST00000560438,;CTD-2651B20.3,intron_variant,,ENST00000560344,;CTD-2651B20.3,intron_variant,,ENST00000561404,;SLC28A2,synonymous_variant,p.=,ENST00000559924,;	uc001zva.2	c.363G>A	428/2464	2	2			c.363G>A						15	SNP	c.(361-363)TCG>TCA	48	48			ovary(4)	4	Broad	solute carrier family 28 (sodium-coupled			45555359		0.458	ENSG00000137860	14306	g.chr15:45555359G>A	nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	NSCLC(92;493 1501 26361 28917 47116)			NSCLC(92;493 1501 26361 28917 47116)			144.276996	KEEP	33	22	-1	52	44	33	22	-1	146.654145	52	44	0.361702	1	0	0	0	0	0	0	1	0	--	--		0	A				206	GBM-28-1747-TP	p.S121S	G	TGGTTCACTCGTTTTTGAAAA	NM_004212	NP_004203	45555359	O43868	S28A2_HUMAN	0		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	5	428	+	A	A		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	Silent	121			Helical; (Potential).			
SLC28A3	0	broad.mit.edu	GRCh37	9	86924627	86924627	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T			TCGA-14-0871-01	TCGA-14-0871-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376238.4:c.159T>A	p.Asp53Glu	p.D53E	ENST00000376238	NM_001199633.1	53	gaT/gaA	0			1			T	D/E	uc010mpz.2	protein_coding	YES	CCDS6670.1			159/2076									upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4	c.(157-159)GAT>GAA			hmmpanther:PTHR10590:SF14,hmmpanther:PTHR10590	concentrative Na+-nucleoside cotransporter				ENSP00000365413		18-Mar									COSM3413790	18-Mar	.		ENST00000376238	Transcript			nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	ENSG00000197506	g.chr9:86924627A>T	16484			MODERATE		0.92	low	getma.org/?cm=msa&ty=f&p=S28A3_HUMAN&rb=1&re=200&var=D53E	NA	getma.org/?cm=var&var=hg19,9,86924627,A,T&fts=all	D53E	--	--	1																																		SLC28A3_uc011lsy.1_5'UTR|SLC28A3_uc004anu.1_Missense_Mutation_p.D53E|SLC28A3_uc010mqb.2_5'UTR	1	1		benign(0.001)	p.D53E	NM_022127	NP_071410		tolerated(1)	1	S28A3_HUMAN	SLC28A3	HGNC	Q9HAS3	S28A3_HUMAN			F5GYE3_HUMAN		3	284	-			UPI000006F5A6	53			Cytoplasmic (Potential).		SNV	SLC28A3,missense_variant,p.Asp53Glu,ENST00000376238,NM_001199633.1,NM_022127.2;SLC28A3,splice_region_variant,,ENST00000537648,;SLC28A3,splice_region_variant,,ENST00000495823,;	uc010mpz.2	c.159T>A	209/4887	1	1			c.159T>A						9	SNP	c.(157-159)GAT>GAA	15	15			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4	Broad	concentrative Na+-nucleoside cotransporter			86924627		0.428	ENSG00000197506	14307	g.chr9:86924627A>T	nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	Ovarian(106;425 1539 34835 42413 43572)			Ovarian(106;425 1539 34835 42413 43572)			125.720526	KEEP	27	19	-1	76	72	27	19	-1	136.067409	76	72	0.247191	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC28A3_uc011lsy.1_5'UTR|SLC28A3_uc004anu.1_Missense_Mutation_p.D53E|SLC28A3_uc010mqb.2_5'UTR	141	GBM-14-0871-TP	p.D53E	A	CCTGTTCTTCATCCTGGAAAT	NM_022127	NP_071410	86924627	Q9HAS3	S28A3_HUMAN	0			3	284	-	T	T			Missense_Mutation	53			Cytoplasmic (Potential).			
SLC28A3	0	broad.mit.edu	GRCh37	9	86917142	86917142	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-26-5132-01	TCGA-26-5132-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376238.4:c.497T>C	p.Leu166Pro	p.L166P	ENST00000376238	NM_001199633.1	166	cTa/cCa	0			1			G	L/P	uc010mpz.2	protein_coding	YES	CCDS6670.1			497/2076									upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4	c.(496-498)CTA>CCA			hmmpanther:PTHR10590:SF14,hmmpanther:PTHR10590	concentrative Na+-nucleoside cotransporter				ENSP00000365413		18-May									COSM2156921	18-May	.		ENST00000376238	Transcript			nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	ENSG00000197506	g.chr9:86917142A>G	16484			MODERATE		2.33	medium	getma.org/?cm=msa&ty=f&p=S28A3_HUMAN&rb=1&re=200&var=L166P	NA	getma.org/?cm=var&var=hg19,9,86917142,A,G&fts=all	L166P	--	--	1																																		SLC28A3_uc011lsy.1_Missense_Mutation_p.L97P|SLC28A3_uc004anu.1_Missense_Mutation_p.L166P|SLC28A3_uc010mqb.2_Missense_Mutation_p.L97P	1	1		probably_damaging(0.954)	p.L166P	NM_022127	NP_071410		deleterious(0)	1	S28A3_HUMAN	SLC28A3	HGNC	Q9HAS3	S28A3_HUMAN			F5GYE3_HUMAN		5	622	-			UPI000006F5A6	166			Cytoplasmic (Potential).		SNV	SLC28A3,missense_variant,p.Leu166Pro,ENST00000376238,NM_001199633.1,NM_022127.2;SLC28A3,missense_variant,p.Leu97Pro,ENST00000537648,;SLC28A3,downstream_gene_variant,,ENST00000495823,;	uc010mpz.2	c.497T>C	547/4887	3	3			c.497T>C						9	SNP	c.(496-498)CTA>CCA	9	9			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4	Broad	concentrative Na+-nucleoside cotransporter			86917142		0.433	ENSG00000197506	14307	g.chr9:86917142A>G	nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	Ovarian(106;425 1539 34835 42413 43572)			Ovarian(106;425 1539 34835 42413 43572)			284.792722	KEEP	44	45	-1	75	55	44	45	-1	285.746626	75	55	0.42487	1	0	0	0	0	1	0	0	0	--	--		0	G			SLC28A3_uc011lsy.1_Missense_Mutation_p.L97P|SLC28A3_uc004anu.1_Missense_Mutation_p.L166P|SLC28A3_uc010mqb.2_Missense_Mutation_p.L97P	181	GBM-26-5132-TP	p.L166P	A	ATGGCTGTTTAGAAGCCTTCT	NM_022127	NP_071410	86917142	Q9HAS3	S28A3_HUMAN	0			5	622	-	G	G			Missense_Mutation	166			Cytoplasmic (Potential).			
SLC28A3	0	broad.mit.edu	GRCh37	9	86928326	86928326	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-32-4210-01	TCGA-32-4210-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376238.4:c.104A>T	p.Asn35Ile	p.N35I	ENST00000376238	NM_001199633.1	35	aAc/aTc	0			1			A	N/I	uc010mpz.2	protein_coding	YES	CCDS6670.1			104/2076									upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4	c.(103-105)AAC>ATC			hmmpanther:PTHR10590:SF14,hmmpanther:PTHR10590	concentrative Na+-nucleoside cotransporter				ENSP00000365413		18-Feb									COSM3413791	18-Feb	.		ENST00000376238	Transcript			nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	ENSG00000197506	g.chr9:86928326T>A	16484			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=S28A3_HUMAN&rb=1&re=200&var=N35I	NA	getma.org/?cm=var&var=hg19,9,86928326,T,A&fts=all	N35I	--	--	1																																		SLC28A3_uc011lsy.1_5'UTR|SLC28A3_uc004anu.1_Missense_Mutation_p.N35I|SLC28A3_uc010mqb.2_5'UTR	1	1		benign(0.008)	p.N35I	NM_022127	NP_071410		deleterious(0.05)	1	S28A3_HUMAN	SLC28A3	HGNC	Q9HAS3	S28A3_HUMAN			F5GYE3_HUMAN		2	229	-			UPI000006F5A6	35			Cytoplasmic (Potential).		SNV	SLC28A3,missense_variant,p.Asn35Ile,ENST00000376238,NM_001199633.1,NM_022127.2;SLC28A3,5_prime_UTR_variant,,ENST00000537648,;SLC28A3,non_coding_transcript_exon_variant,,ENST00000495823,;	uc010mpz.2	c.104A>T	154/4887	1	1			c.104A>T						9	SNP	c.(103-105)AAC>ATC	52	52			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4	Broad	concentrative Na+-nucleoside cotransporter			86928326		0.418	ENSG00000197506	14307	g.chr9:86928326T>A	nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	Ovarian(106;425 1539 34835 42413 43572)			Ovarian(106;425 1539 34835 42413 43572)			137.718429	KEEP	22	44	-1	60	102	22	44	-1	145.532593	60	102	0.282609	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC28A3_uc011lsy.1_5'UTR|SLC28A3_uc004anu.1_Missense_Mutation_p.N35I|SLC28A3_uc010mqb.2_5'UTR	245	GBM-32-4210-TP	p.N35I	T	TCTTATTGAGTTGTTTCCTGA	NM_022127	NP_071410	86928326	Q9HAS3	S28A3_HUMAN	0			2	229	-	A	A			Missense_Mutation	35			Cytoplasmic (Potential).			
SLC29A1	0	broad.mit.edu	GRCh37	6	44198124	44198124	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-14-3476-01	TCGA-14-3476-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371708.1:c.495T>C	p.Ala165=	p.A165=	ENST00000371708		165	gcT/gcC	0			1			C	A	uc003owu.1	protein_coding		CCDS4908.1			495/1371									large_intestine(2)|skin(1)	3	c.(493-495)GCT>GCC			Transmembrane_helices:TMhelix,hmmpanther:PTHR10332:SF9,hmmpanther:PTHR10332,TIGRFAM_domain:TIGR00939,Pfam_domain:PF01733,PIRSF_domain:PIRSF016379,Superfamily_domains:SSF103473,Prints_domain:PR01130	equilibrative nucleoside transporter 1	Troglitazone(DB00197)			ENSP00000360773		12-May									COSM3411137,COSM3411138	12-May	.		ENST00000371708	Transcript			nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding	ENSG00000112759	g.chr6:44198124T>C	11003			LOW								--	--	1																																		SLC29A1_uc011dvp.1_3'UTR|SLC29A1_uc003owv.1_Silent_p.A165A|SLC29A1_uc003oww.1_Silent_p.A244A|SLC29A1_uc011dvq.1_3'UTR|SLC29A1_uc003owx.1_Silent_p.A165A|SLC29A1_uc003owy.1_Silent_p.A165A|SLC29A1_uc003owz.1_Silent_p.A165A	1,1				p.A165A	NM_004955	NP_004946			1,1	S29A1_HUMAN	SLC29A1	HGNC	Q99808	S29A1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		C8KHU2_HUMAN,C8KHU1_HUMAN		6	824	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		UPI0000001BCC	165			Cytoplasmic (Potential).		SNV	SLC29A1,synonymous_variant,p.=,ENST00000393841,NM_001078177.1;SLC29A1,synonymous_variant,p.=,ENST00000393844,NM_004955.2,NM_001078174.1;SLC29A1,synonymous_variant,p.=,ENST00000313248,;SLC29A1,synonymous_variant,p.=,ENST00000371724,;SLC29A1,synonymous_variant,p.=,ENST00000371731,;SLC29A1,synonymous_variant,p.=,ENST00000371740,NM_001078175.2;SLC29A1,synonymous_variant,p.=,ENST00000371713,;SLC29A1,synonymous_variant,p.=,ENST00000427851,;SLC29A1,synonymous_variant,p.=,ENST00000371708,;SLC29A1,synonymous_variant,p.=,ENST00000371755,NM_001078176.2;SLC29A1,non_coding_transcript_exon_variant,,ENST00000472176,;	uc003owu.1	c.495T>C	670/2159	4	4			c.495T>C						6	SNP	c.(493-495)GCT>GCC	36	36			large_intestine(2)|skin(1)	3	Broad	equilibrative nucleoside transporter 1		Troglitazone(DB00197)	44198124		0.627	ENSG00000112759	14308	g.chr6:44198124T>C	nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			184			184	-17.685289	KEEP	0	5	-1	53	63	0	5	-1	7.728745	53	63	0.037383	1	0	0	0	0	0	0	1	0	--	--		0	C			SLC29A1_uc011dvp.1_3'UTR|SLC29A1_uc003owv.1_Silent_p.A165A|SLC29A1_uc003oww.1_Silent_p.A244A|SLC29A1_uc011dvq.1_3'UTR|SLC29A1_uc003owx.1_Silent_p.A165A|SLC29A1_uc003owy.1_Silent_p.A165A|SLC29A1_uc003owz.1_Silent_p.A165A	151	GBM-14-3476-TP	p.A165A	T	TTGGTCTGGCTGGCCTTCTGC	NM_004955	NP_004946	44198124	Q99808	S29A1_HUMAN	0	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		6	824	+	C	C	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Silent	165			Cytoplasmic (Potential).			
SLC29A2	0	broad.mit.edu	GRCh37	11	66133408	66133409	+	missense_variant,splice_region_variant	Missense_Mutation	DNP	CA	CA	AC			TCGA-32-2494-01	TCGA-32-2494-01	CA	CA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357440.2:c.1057_1058delTGinsGT	p.Trp353Val	p.W353V	ENST00000357440	NM_001532.2	353	TGg/GTg	0			1			AC	W/V	uc001oht.2	protein_coding	YES	CCDS8137.1			1057-1058/1371									ovary(1)	1	c.(1057-1059)TGG>GTG			hmmpanther:PTHR10332:SF8,hmmpanther:PTHR10332,Pfam_domain:PF01733,TIGRFAM_domain:TIGR00939,PIRSF_domain:PIRSF016379,Superfamily_domains:SSF103473,Prints_domain:PR01130	solute carrier family 29 (nucleoside				ENSP00000350024		12-Oct										12-Oct	.		ENST00000357440	Transcript			cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity	ENSG00000174669	g.chr11:66133408_66133409CA>AC	11004			MODERATE								--	--	1																																		SLC29A2_uc001ohs.2_Missense_Mutation_p.W233V|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_Missense_Mutation_p.W233V|SLC29A2_uc001ohu.2_Missense_Mutation_p.W353V|SLC29A2_uc001ohv.2_Missense_Mutation_p.V308G|uc001ohw.1_5'Flank		1		probably_damaging(1)	p.W353V	NM_001532	NP_001523		deleterious(0)		S29A2_HUMAN	SLC29A2	HGNC	Q14542	S29A2_HUMAN					10	1286_1287	-			UPI000013F0E7	353					substitution	SLC29A2,missense_variant,p.Trp353Val,ENST00000357440,NM_001532.2;SLC29A2,missense_variant,p.Trp353Val,ENST00000546034,;SLC29A2,missense_variant,p.Trp353Val,ENST00000544554,;SLC29A2,missense_variant,p.Val308Gly,ENST00000311161,;RP11-867G23.8,downstream_gene_variant,,ENST00000531602,;RP11-867G23.8,downstream_gene_variant,,ENST00000580881,;SLC29A2,splice_region_variant,,ENST00000540386,;SLC29A2,splice_region_variant,,ENST00000541567,;	uc001oht.2	c.1057_1058TG>GT	1286-1287/2514	2	2			c.1057_1058TG>GT						11	DNP	c.(1057-1059)TGG>GTG	25	25			ovary(1)	1	Broad	solute carrier family 29 (nucleoside			66133409		0.535	ENSG00000174669	14309	g.chr11:66133408_66133409CA>AC	cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity							31.841649	KEEP	0	0	-1	0	0	0	0	-1	40.431858	0	0	0.179775	1	0	0	0	0	1	0	0	0	--	--		0	AC			SLC29A2_uc001ohs.2_Missense_Mutation_p.W233V|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_Missense_Mutation_p.W233V|SLC29A2_uc001ohu.2_Missense_Mutation_p.W353V|SLC29A2_uc001ohv.2_Missense_Mutation_p.V308G|uc001ohw.1_5'Flank	236	GBM-32-2494-TP	p.W353V	CA	TGTGCTTACCCACAGGAAGTAA	NM_001532	NP_001523	66133408	Q14542	S29A2_HUMAN	0			10	1286_1287	-	AC	AC			Missense_Mutation	353						
SLC29A4	222962	broad.mit.edu	GRCh37	7	5330480	5330480	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0648-01	TCGA-06-0648-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396872.3:c.287A>G	p.His96Arg	p.H96R	ENST00000396872		96	cAt/cGt	0			1			G	H/R	uc003sod.2	protein_coding		CCDS5340.1			287/1593									liver(1)	1	c.(286-288)CAT>CGT			hmmpanther:PTHR10332,hmmpanther:PTHR10332:SF4,Superfamily_domains:SSF103473	solute carrier family 29 (nucleoside				ENSP00000297195		11-Mar									COSM2151360	11-Mar	.		ENST00000297195	Transcript			nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	ENSG00000164638	g.chr7:5330480A>G	23097			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=S29A4_HUMAN&rb=1&re=169&var=H96R	NA	getma.org/?cm=var&var=hg19,7,5330480,A,G&fts=all	H96R	--	--	1																																		SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Missense_Mutation_p.H96R|SLC29A4_uc003soe.2_Missense_Mutation_p.H96R	1			possibly_damaging(0.838)	p.H96R	NM_153247	NP_694979		deleterious(0.01)	1	S29A4_HUMAN	SLC29A4	HGNC	Q7RTT9	S29A4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	C9IYM7_HUMAN		3	448	+		Ovarian(82;0.0175)	UPI0000051F6F	96			Cytoplasmic (Potential).		SNV	SLC29A4,missense_variant,p.His96Arg,ENST00000396872,;SLC29A4,missense_variant,p.His96Arg,ENST00000297195,NM_001040661.1,NM_153247.2;SLC29A4,missense_variant,p.His96Arg,ENST00000406453,;SLC29A4,missense_variant,p.His96Arg,ENST00000434816,;SLC29A4,missense_variant,p.His96Arg,ENST00000444741,;	uc003sod.2	c.287A>G	412/2839	4	4			c.287A>G						7	SNP	c.(286-288)CAT>CGT	29	29			liver(1)	1	Broad	solute carrier family 29 (nucleoside			5330480		0.627	ENSG00000164638	14311	g.chr7:5330480A>G	nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity							58.371983	KEEP	17	12	-1	57	55	17	12	-1	69.462296	57	55	0.198473	1	0	0	0	0	1	0	0	0	--	--		0	G			SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Missense_Mutation_p.H96R|SLC29A4_uc003soe.2_Missense_Mutation_p.H96R	61	GBM-06-0648-TP	p.H96R	A	GACTACCTGCATCACAAGTAC	NM_153247	NP_694979	5330480	Q7RTT9	S29A4_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	3	448	+	G	G		Ovarian(82;0.0175)	Missense_Mutation	96			Cytoplasmic (Potential).			
SLC29A4	0	broad.mit.edu	GRCh37	7	5340251	5340251	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-26-5139-01	TCGA-26-5139-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297195.4:c.1408C>T	p.Leu470=	p.L470=	ENST00000297195	NM_001040661.1	470	Ctg/Ttg	0			1			T	L	uc003sod.2	protein_coding		CCDS5340.1			1408/1593									liver(1)	1	c.(1408-1410)CTG>TTG			Pfam_domain:PF01733,Prints_domain:PR01130,hmmpanther:PTHR10332,hmmpanther:PTHR10332:SF4,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix	solute carrier family 29 (nucleoside				ENSP00000297195		11-Oct									COSM3412157	11-Oct	.		ENST00000297195	Transcript			nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	ENSG00000164638	g.chr7:5340251C>T	23097			LOW								--	--	1																																		SLC29A4_uc003soc.2_Silent_p.L470L|SLC29A4_uc003soe.2_Silent_p.L456L|SLC29A4_uc010ksw.2_Intron	1				p.L470L	NM_153247	NP_694979			1	S29A4_HUMAN	SLC29A4	HGNC	Q7RTT9	S29A4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	C9IYM7_HUMAN		10	1569	+		Ovarian(82;0.0175)	UPI0000051F6F	470			Helical; (Potential).		SNV	SLC29A4,synonymous_variant,p.=,ENST00000396872,;SLC29A4,synonymous_variant,p.=,ENST00000297195,NM_001040661.1,NM_153247.2;SLC29A4,synonymous_variant,p.=,ENST00000406453,;SLC29A4,non_coding_transcript_exon_variant,,ENST00000439491,;	uc003sod.2	c.1408C>T	1533/2839	2	2			c.1408C>T						7	SNP	c.(1408-1410)CTG>TTG	35	35			liver(1)	1	Broad	solute carrier family 29 (nucleoside			5340251		0.706	ENSG00000164638	14311	g.chr7:5340251C>T	nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity							-20.384587	KEEP	8	17	-1	75	104	8	17	-1	17.735378	75	104	0.050562	1	0	0	0	0	0	0	1	0	--	--		0	T			SLC29A4_uc003soc.2_Silent_p.L470L|SLC29A4_uc003soe.2_Silent_p.L456L|SLC29A4_uc010ksw.2_Intron	186	GBM-26-5139-TP	p.L470L	C	GCCCATGATCCTGGCGGCAGG	NM_153247	NP_694979	5340251	Q7RTT9	S29A4_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	10	1569	+	T	T		Ovarian(82;0.0175)	Silent	470			Helical; (Potential).			
SLC29A4	222962		GRCh37	7	5331368	5331368	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000396872.3:c.460G>A	p.Asp154Asn	p.D154N	ENST00000396872		154	Gac/Aac	0																																																																																																																																																																																																																																												
SLC2A1	6513	broad.mit.edu	GRCh37	1	43396355	43396355	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01	TCGA-02-2486-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000426263.3:c.458G>A	p.Arg153His	p.R153H	ENST00000426263	NM_006516.2	153	cGt/cAt	0			1			T	R/H	uc001cik.2	protein_coding	YES	CCDS477.1			458/1479									central_nervous_system(2)|pancreas(2)|ovary(1)	5	c.(457-459)CGT>CAT			PROSITE_profiles:PS50850,hmmpanther:PTHR24063,hmmpanther:PTHR24063:SF289,PROSITE_patterns:PS00217,TIGRFAM_domain:TIGR00879,Pfam_domain:PF00083,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	solute carrier family 2 (facilitated glucose	Etomidate(DB00292)			ENSP00000416293		10-Apr									COSM3400787,COSM3400789,COSM3400788	10-Apr	.		ENST00000426263	Transcript	1		carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	ENSG00000117394	g.chr1:43396355C>T	11005			MODERATE		4.4	high	getma.org/?cm=msa&ty=f&p=GTR1_HUMAN&rb=16&re=467&var=R153H	NA	getma.org/?cm=var&var=hg19,1,43396355,C,T&fts=all	R153H	--	--	1																																			1,1,1	1		probably_damaging(1)	p.R153H	NM_006516	NP_006507		deleterious(0)	1,1,1	GTR1_HUMAN	SLC2A1	HGNC	P11166	GTR1_HUMAN			Q59GX2_HUMAN,B3KVN0_HUMAN		4	983	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)	UPI00002058B9	153		R -> H (in GLUT1DS2).|R -> C (in GLUT1DS1; 44% of wild-type glucose uptake activity).	Cytoplasmic (Potential).		SNV	SLC2A1,missense_variant,p.Arg153His,ENST00000426263,NM_006516.2;SLC2A1,missense_variant,p.Arg153His,ENST00000372500,;SLC2A1,missense_variant,p.Arg58His,ENST00000439722,;SLC2A1,intron_variant,,ENST00000415851,;SLC2A1,non_coding_transcript_exon_variant,,ENST00000475162,;	uc001cik.2	c.458G>A	637/3318	1	1			c.458G>A						1	SNP	c.(457-459)CGT>CAT	8	8			central_nervous_system(2)|pancreas(2)|ovary(1)	5	Broad	solute carrier family 2 (facilitated glucose		Etomidate(DB00292)	43396355		0.647	ENSG00000117394	14312	g.chr1:43396355C>T	carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity							37.47949	KEEP	4	10	-1	11	11	4	10	-1	37.800342	11	11	0.393939	1	0	0	0	0	1	0	0	0	--	--		0	T				8	GBM-02-2486-TP	p.R153H	C	CAGGGCCCCACGAAGGGCTGT	NM_006516	NP_006507	43396355	P11166	GTR1_HUMAN	0			4	983	-	T	T	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)	Missense_Mutation	153		R -> H (in GLUT1DS2).|R -> C (in GLUT1DS1; 44% of wild-type glucose uptake activity).	Cytoplasmic (Potential).			
SLC2A1	0	broad.mit.edu	GRCh37	1	43396302	43396302	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01	TCGA-12-3649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000426263.3:c.511G>A	p.Ala171Thr	p.A171T	ENST00000426263	NM_006516.2	171	Gcc/Acc	0			1			T	A/T	uc001cik.2	protein_coding	YES	CCDS477.1			511/1479									central_nervous_system(2)|pancreas(2)|ovary(1)	5	c.(511-513)GCC>ACC			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24063,hmmpanther:PTHR24063:SF289,TIGRFAM_domain:TIGR00879,Pfam_domain:PF00083,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	solute carrier family 2 (facilitated glucose	Etomidate(DB00292)			ENSP00000416293		10-Apr									COSM3400784,COSM3400786,COSM3400785	10-Apr	.		ENST00000426263	Transcript	1		carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	ENSG00000117394	g.chr1:43396302C>T	11005			MODERATE		2.94	medium	getma.org/?cm=msa&ty=f&p=GTR1_HUMAN&rb=16&re=467&var=A171T	NA	getma.org/?cm=var&var=hg19,1,43396302,C,T&fts=all	A171T	--	--	1																																			1,1,1	1		probably_damaging(1)	p.A171T	NM_006516	NP_006507		deleterious(0)	1,1,1	GTR1_HUMAN	SLC2A1	HGNC	P11166	GTR1_HUMAN			Q59GX2_HUMAN,B3KVN0_HUMAN		4	1036	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)	UPI00002058B9	171			Helical; Name=5; (Potential).		SNV	SLC2A1,missense_variant,p.Ala171Thr,ENST00000426263,NM_006516.2;SLC2A1,missense_variant,p.Ala171Thr,ENST00000372500,;SLC2A1,missense_variant,p.Ala76Thr,ENST00000439722,;SLC2A1,intron_variant,,ENST00000415851,;SLC2A1,non_coding_transcript_exon_variant,,ENST00000475162,;	uc001cik.2	c.511G>A	690/3318	2	2			c.511G>A						1	SNP	c.(511-513)GCC>ACC	26	26			central_nervous_system(2)|pancreas(2)|ovary(1)	5	Broad	solute carrier family 2 (facilitated glucose		Etomidate(DB00292)	43396302		0.642	ENSG00000117394	14312	g.chr1:43396302C>T	carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity							28.590764	KEEP	5	4	-1	5	7	5	4	-1	28.60054	5	7	0.473684	1	0	0	0	0	1	0	0	0	--	--		0	T				125	GBM-12-3649-TP	p.A171T	C	CTTACCTGGGCGATGAGGATG	NM_006516	NP_006507	43396302	P11166	GTR1_HUMAN	0			4	1036	-	T	T	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)	Missense_Mutation	171			Helical; Name=5; (Potential).			
SLC2A13	114134	broad.mit.edu	GRCh37	12	40153845	40153845	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01	TCGA-06-6391-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000280871.4:c.1930G>A	p.Ala644Thr	p.A644T	ENST00000280871	NM_052885.3	644	Gct/Act	0			1			T	A/T	uc010skm.1	protein_coding	YES	CCDS8736.2			1930/1947									ovary(1)	1	c.(1930-1932)GCT>ACT				solute carrier family 2 (facilitated glucose				ENSP00000280871		10-Oct										10-Oct	.		ENST00000280871	Transcript				integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	ENSG00000151229	g.chr12:40153845C>T	15956			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=MYCT_HUMAN&rb=610&re=648&var=A644T	NA	getma.org/?cm=var&var=hg19,12,40153845,C,T&fts=all	A644T	--	--	1				HNSCC(50;0.14)																														C12orf40_uc009zjv.1_Intron		1		benign(0.344)	p.A644T	NM_052885	NP_443117		deleterious_low_confidence(0.04)		MYCT_HUMAN	SLC2A13	HGNC	Q96QE2	MYCT_HUMAN					10	1981	-		Lung NSC(34;0.105)|all_lung(34;0.123)	UPI000066D913	644			Cytoplasmic (Potential).		SNV	SLC2A13,missense_variant,p.Ala644Thr,ENST00000280871,NM_052885.3;C12orf40,intron_variant,,ENST00000468200,;	uc010skm.1	c.1930G>A	1981/7003	2	2			c.1930G>A						12	SNP	c.(1930-1932)GCT>ACT	22	22			ovary(1)	1	Broad	solute carrier family 2 (facilitated glucose			40153845		0.383	ENSG00000151229	14316	g.chr12:40153845C>T		integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity							25.416041	KEEP	10	8	-1	49	55	10	8	-1	38.503686	49	55	0.146789	1	0	0	0	0	1	0	0	0	--	--	HNSCC(50;0.14)	0	T			C12orf40_uc009zjv.1_Intron	107	GBM-06-6391-TP	p.A644T	C	ACATCAGAAGCATCATTGTCA	NM_052885	NP_443117	40153845	Q96QE2	MYCT_HUMAN	0			10	1981	-	T	T		Lung NSC(34;0.105)|all_lung(34;0.123)	Missense_Mutation	644			Cytoplasmic (Potential).			
SLC2A14	144195	broad.mit.edu	GRCh37	12	7980269	7980269	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-0003-01	TCGA-02-0003-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000543909.1:c.755G>A	p.Arg252Gln	p.R252Q	ENST00000543909	NM_001286233.1	252	cGg/cAg	0			1			T	R/Q	uc001qtk.2	protein_coding		CCDS8585.1			755/1563									ovary(1)	1	c.(754-756)CGG>CAG			PROSITE_profiles:PS50850,hmmpanther:PTHR24063:SF322,hmmpanther:PTHR24063,TIGRFAM_domain:TIGR00879,Pfam_domain:PF00083	glucose transporter 14				ENSP00000379834		12-Aug	0.000116		0.00139						rs778525180,COSM303229	12-Aug	common_variant		ENST00000396589	Transcript			cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	ENSG00000173262	g.chr12:7980269C>T	18301			MODERATE		1.73	low	getma.org/?cm=msa&ty=f&p=GTR14_HUMAN&rb=37&re=489&var=R252Q	NA	getma.org/?cm=var&var=hg19,12,7980269,C,T&fts=all	R252Q	--	--	1																																		SLC2A14_uc001qtl.2_Missense_Mutation_p.R229Q|SLC2A14_uc001qtm.2_Missense_Mutation_p.R229Q|SLC2A14_uc010sgg.1_Missense_Mutation_p.R143Q|SLC2A14_uc001qtn.2_Missense_Mutation_p.R252Q|SLC2A14_uc001qto.2_Intron|SLC2A14_uc010sgh.1_Missense_Mutation_p.R267Q	0,1			benign(0.049)	p.R252Q	NM_153449	NP_703150		tolerated(0.13)	0,1	GTR14_HUMAN	SLC2A14	HGNC	Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	F5H6F6_HUMAN,F5GXP7_HUMAN		12	1548	-			UPI000006D325	252			Cytoplasmic (Potential).		SNV	SLC2A14,missense_variant,p.Arg252Gln,ENST00000543909,NM_001286233.1;SLC2A14,missense_variant,p.Arg229Gln,ENST00000340749,NM_001286235.1;SLC2A14,missense_variant,p.Arg229Gln,ENST00000431042,NM_001286234.1;SLC2A14,missense_variant,p.Arg252Gln,ENST00000396589,NM_153449.2;SLC2A14,missense_variant,p.Arg267Gln,ENST00000539924,NM_001286237.1;SLC2A14,missense_variant,p.Arg143Gln,ENST00000535295,;SLC2A14,missense_variant,p.Arg143Gln,ENST00000542546,;SLC2A14,intron_variant,,ENST00000542505,;SLC2A14,downstream_gene_variant,,ENST00000546234,;SLC2A14,downstream_gene_variant,,ENST00000542782,;SLC2A14,downstream_gene_variant,,ENST00000535383,;SLC2A14,downstream_gene_variant,,ENST00000542916,;SLC2A14,downstream_gene_variant,,ENST00000537557,;SLC2A14,downstream_gene_variant,,ENST00000535344,;SLC2A14,downstream_gene_variant,,ENST00000535266,;SLC2A14,downstream_gene_variant,,ENST00000539738,;SLC2A14,downstream_gene_variant,,ENST00000536594,;	uc001qtk.2	c.755G>A	1012/2335	2	2			c.755G>A						12	SNP	c.(754-756)CGG>CAG	18	18			ovary(1)	1	Broad	glucose transporter 14			7980269		0.502	ENSG00000173262	14317	g.chr12:7980269C>T	cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity							86.844417	KEEP	26	18	-1	39	47	26	18	-1	86.8755	39	47	0.47619	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC2A14_uc001qtl.2_Missense_Mutation_p.R229Q|SLC2A14_uc001qtm.2_Missense_Mutation_p.R229Q|SLC2A14_uc010sgg.1_Missense_Mutation_p.R143Q|SLC2A14_uc001qtn.2_Missense_Mutation_p.R252Q|SLC2A14_uc001qto.2_Intron|SLC2A14_uc010sgh.1_Missense_Mutation_p.R267Q	1	GBM-02-0003-TP	p.R252Q	C	GCCCCACAACCGCTGGAGGAC	NM_153449	NP_703150	7980269	Q8TDB8	GTR14_HUMAN	0		Kidney(36;0.0883)	12	1548	-	T	T			Missense_Mutation	252			Cytoplasmic (Potential).			
SLC2A14	0	broad.mit.edu	GRCh37	12	7980153	7980153	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396589.2:c.871C>T	p.Arg291Ter	p.R291*	ENST00000396589	NM_153449.2	291	Cga/Tga	0			1			A	R/*	uc001qtk.2	protein_coding		CCDS8585.1			871/1563									ovary(1)	1	c.(871-873)CGA>TGA			PROSITE_profiles:PS50850,hmmpanther:PTHR24063:SF322,hmmpanther:PTHR24063,TIGRFAM_domain:TIGR00879,Gene3D:1.20.1250.20,Pfam_domain:PF00083,Superfamily_domains:SSF103473	glucose transporter 14				ENSP00000379834		12-Aug									COSM2153653	12-Aug	.		ENST00000396589	Transcript			cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	ENSG00000173262	g.chr12:7980153G>A	18301			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,12,7980153,G,A&fts=all	R291*	--	--	1																																		SLC2A14_uc001qtl.2_Nonsense_Mutation_p.R268*|SLC2A14_uc001qtm.2_Nonsense_Mutation_p.R268*|SLC2A14_uc010sgg.1_Nonsense_Mutation_p.R182*|SLC2A14_uc001qtn.2_Nonsense_Mutation_p.R291*|SLC2A14_uc001qto.2_Intron|SLC2A14_uc010sgh.1_Nonsense_Mutation_p.R306*	1				p.R291*	NM_153449	NP_703150			1	GTR14_HUMAN	SLC2A14	HGNC	Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	F5H6F6_HUMAN,F5GXP7_HUMAN		12	1664	-			UPI000006D325	291			Cytoplasmic (Potential).		SNV	SLC2A14,stop_gained,p.Arg291Ter,ENST00000543909,NM_001286233.1;SLC2A14,stop_gained,p.Arg268Ter,ENST00000340749,NM_001286235.1;SLC2A14,stop_gained,p.Arg268Ter,ENST00000431042,NM_001286234.1;SLC2A14,stop_gained,p.Arg291Ter,ENST00000396589,NM_153449.2;SLC2A14,stop_gained,p.Arg306Ter,ENST00000539924,NM_001286237.1;SLC2A14,stop_gained,p.Arg182Ter,ENST00000535295,;SLC2A14,stop_gained,p.Arg182Ter,ENST00000542546,;SLC2A14,intron_variant,,ENST00000542505,;SLC2A14,downstream_gene_variant,,ENST00000546234,;SLC2A14,downstream_gene_variant,,ENST00000542782,;SLC2A14,downstream_gene_variant,,ENST00000535383,;SLC2A14,downstream_gene_variant,,ENST00000542916,;SLC2A14,downstream_gene_variant,,ENST00000537557,;SLC2A14,downstream_gene_variant,,ENST00000535344,;SLC2A14,downstream_gene_variant,,ENST00000535266,;SLC2A14,downstream_gene_variant,,ENST00000539738,;SLC2A14,downstream_gene_variant,,ENST00000536594,;	uc001qtk.2	c.871C>T	1128/2335	5	2			c.871C>T						12	SNP	c.(871-873)CGA>TGA	34	34			ovary(1)	1	Broad	glucose transporter 14			7980153		0.478	ENSG00000173262	14317	g.chr12:7980153G>A	cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity							93.663212	KEEP	20	11	-1	26	28	20	11	-1	94.336404	26	28	0.39726	1	0	0	0	0	0	1	0	0	--	--		0	A			SLC2A14_uc001qtl.2_Nonsense_Mutation_p.R268*|SLC2A14_uc001qtm.2_Nonsense_Mutation_p.R268*|SLC2A14_uc010sgg.1_Nonsense_Mutation_p.R182*|SLC2A14_uc001qtn.2_Nonsense_Mutation_p.R291*|SLC2A14_uc001qto.2_Intron|SLC2A14_uc010sgh.1_Nonsense_Mutation_p.R306*	120	GBM-12-0619-TP	p.R291*	G	ATGGGCTGTCGGTAGCTGGAC	NM_153449	NP_703150	7980153	Q8TDB8	GTR14_HUMAN	0		Kidney(36;0.0883)	12	1664	-	A	A			Nonsense_Mutation	291			Cytoplasmic (Potential).			
SLC2A14	0	broad.mit.edu	GRCh37	12	7970576	7970576	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-0871-01	TCGA-14-0871-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396589.2:c.1195G>T	p.Ala399Ser	p.A399S	ENST00000396589	NM_153449.2	399	Gcc/Tcc	0			1			A	A/S	uc001qtk.2	protein_coding		CCDS8585.1			1195/1563									ovary(1)	1	c.(1195-1197)GCC>TCC			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24063:SF322,hmmpanther:PTHR24063,TIGRFAM_domain:TIGR00879,Gene3D:1.20.1250.20,Pfam_domain:PF00083,Superfamily_domains:SSF103473,Prints_domain:PR00171	glucose transporter 14				ENSP00000379834		12-Nov									COSM3399127	12-Nov	.		ENST00000396589	Transcript			cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	ENSG00000173262	g.chr12:7970576C>A	18301			MODERATE		2.635	medium	getma.org/?cm=msa&ty=f&p=GTR14_HUMAN&rb=37&re=489&var=A399S	NA	getma.org/?cm=var&var=hg19,12,7970576,C,A&fts=all	A399S	--	--	1																																		SLC2A14_uc001qtl.2_Missense_Mutation_p.A376S|SLC2A14_uc001qtm.2_Missense_Mutation_p.A376S|SLC2A14_uc010sgg.1_Missense_Mutation_p.A290S|SLC2A14_uc001qtn.2_Missense_Mutation_p.A399S|SLC2A14_uc001qto.2_Missense_Mutation_p.A34S|SLC2A14_uc010sgh.1_Missense_Mutation_p.A414S	1			possibly_damaging(0.845)	p.A399S	NM_153449	NP_703150		tolerated(0.3)	1	GTR14_HUMAN	SLC2A14	HGNC	Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	F5H6F6_HUMAN,F5GXP7_HUMAN		15	1988	-			UPI000006D325	399			Helical; Name=10; (Potential).		SNV	SLC2A14,missense_variant,p.Ala399Ser,ENST00000543909,NM_001286233.1;SLC2A14,missense_variant,p.Ala376Ser,ENST00000340749,NM_001286235.1;SLC2A14,missense_variant,p.Ala376Ser,ENST00000431042,NM_001286234.1;SLC2A14,missense_variant,p.Ala399Ser,ENST00000396589,NM_153449.2;SLC2A14,missense_variant,p.Ala414Ser,ENST00000539924,NM_001286237.1;SLC2A14,missense_variant,p.Ala290Ser,ENST00000535295,;SLC2A14,missense_variant,p.Ala40Ser,ENST00000542505,;SLC2A14,missense_variant,p.Ala290Ser,ENST00000542546,;	uc001qtk.2	c.1195G>T	1452/2335	2	2			c.1195G>T						12	SNP	c.(1195-1197)GCC>TCC	35	35			ovary(1)	1	Broad	glucose transporter 14			7970576		0.498	ENSG00000173262	14317	g.chr12:7970576C>A	cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity							116.151614	KEEP	22	20	0.476190476	20	14	22	20	0.476190476	116.355745	20	14	0.558824	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC2A14_uc001qtl.2_Missense_Mutation_p.A376S|SLC2A14_uc001qtm.2_Missense_Mutation_p.A376S|SLC2A14_uc010sgg.1_Missense_Mutation_p.A290S|SLC2A14_uc001qtn.2_Missense_Mutation_p.A399S|SLC2A14_uc001qto.2_Missense_Mutation_p.A34S|SLC2A14_uc010sgh.1_Missense_Mutation_p.A414S	141	GBM-14-0871-TP	p.A399S	C	TCAAAACAGGCCACAAAGACC	NM_153449	NP_703150	7970576	Q8TDB8	GTR14_HUMAN	0		Kidney(36;0.0883)	15	1988	-	A	A			Missense_Mutation	399			Helical; Name=10; (Potential).			
SLC2A3	6515	broad.mit.edu	GRCh37	12	8082458	8082458	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-0003-01	TCGA-02-0003-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000075120.7:c.683G>A	p.Arg228Gln	p.R228Q	ENST00000075120	NM_006931.2	228	cGg/cAg	0		T:0	1	T:0		T	R/Q	uc001qtr.2	protein_coding	YES	CCDS8586.1			683/1491									ovary(3)|pancreas(1)	4	c.(682-684)CGG>CAG			PROSITE_profiles:PS50850,hmmpanther:PTHR24063:SF322,hmmpanther:PTHR24063,TIGRFAM_domain:TIGR00879,Pfam_domain:PF00083	solute carrier family 2 (facilitated glucose		T:0		ENSP00000075120	T:0.001	10-Jun	0.000132	9.61E-05	0.00112	0.000116		1.50E-05			rs200481428,COSM303230	10-Jun	common_variant		ENST00000075120	Transcript	1		carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	ENSG00000059804	g.chr12:8082458C>T	11007			MODERATE		1.62	low	getma.org/?cm=msa&ty=f&p=GTR3_HUMAN&rb=13&re=465&var=R228Q	NA	getma.org/?cm=var&var=hg19,12,8082458,C,T&fts=all	R228Q	--	--	1																																		SLC2A3_uc001qts.2_3'UTR	0,1	1		benign(0.014)	p.R228Q	NM_006931	NP_008862	T:0	tolerated(0.14)	0,1	GTR3_HUMAN	SLC2A3	HGNC	P11169	GTR3_HUMAN		Kidney(36;0.0866)			6	945	-			UPI0000001C7D	228			Cytoplasmic (Potential).		SNV	SLC2A3,missense_variant,p.Arg228Gln,ENST00000075120,NM_006931.2;SLC2A3,downstream_gene_variant,,ENST00000544291,;SLC2A3,non_coding_transcript_exon_variant,,ENST00000486749,;SLC2A3,non_coding_transcript_exon_variant,,ENST00000495813,;SLC2A3,non_coding_transcript_exon_variant,,ENST00000490763,;SLC2A3,non_coding_transcript_exon_variant,,ENST00000479059,;SLC2A3,downstream_gene_variant,,ENST00000476634,;SLC2A3,downstream_gene_variant,,ENST00000541671,;SLC2A3,downstream_gene_variant,,ENST00000544936,;	uc001qtr.2	c.683G>A	924/3915	2	2			c.683G>A						12	SNP	c.(682-684)CGG>CAG	35	35			ovary(3)|pancreas(1)	4	Broad	solute carrier family 2 (facilitated glucose			8082458		0.493	ENSG00000059804	14319	g.chr12:8082458C>T	carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	Colon(96;424 1461 14416 20933 23688)			Colon(96;424 1461 14416 20933 23688)			21.948657	KEEP	17	22	-1	110	134	17	22	-1	53.00456	110	134	0.113744	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC2A3_uc001qts.2_3'UTR	1	GBM-02-0003-TP	p.R228Q	C	GCCCCACAACCGCTGGAGGAC	NM_006931	NP_008862	8082458	P11169	GTR3_HUMAN	0		Kidney(36;0.0866)	6	945	-	T	T			Missense_Mutation	228			Cytoplasmic (Potential).			
SLC2A3	0	broad.mit.edu	GRCh37	12	8082342	8082342	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000075120.7:c.799C>T	p.Arg267Ter	p.R267*	ENST00000075120	NM_006931.2	267	Cga/Tga	0			1			A	R/*	uc001qtr.2	protein_coding	YES	CCDS8586.1			799/1491									ovary(3)|pancreas(1)	4	c.(799-801)CGA>TGA			PROSITE_profiles:PS50850,hmmpanther:PTHR24063:SF322,hmmpanther:PTHR24063,TIGRFAM_domain:TIGR00879,Pfam_domain:PF00083,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	solute carrier family 2 (facilitated glucose				ENSP00000075120		10-Jun									COSM3399129	10-Jun	.		ENST00000075120	Transcript	1		carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	ENSG00000059804	g.chr12:8082342G>A	11007			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,12,8082342,G,A&fts=all	R267*	--	--	1																																		SLC2A3_uc001qts.2_3'UTR	1	1			p.R267*	NM_006931	NP_008862			1	GTR3_HUMAN	SLC2A3	HGNC	P11169	GTR3_HUMAN		Kidney(36;0.0866)			6	1061	-			UPI0000001C7D	267			Cytoplasmic (Potential).		SNV	SLC2A3,stop_gained,p.Arg267Ter,ENST00000075120,NM_006931.2;SLC2A3,downstream_gene_variant,,ENST00000544291,;SLC2A3,non_coding_transcript_exon_variant,,ENST00000486749,;SLC2A3,non_coding_transcript_exon_variant,,ENST00000495813,;SLC2A3,non_coding_transcript_exon_variant,,ENST00000490763,;SLC2A3,non_coding_transcript_exon_variant,,ENST00000479059,;SLC2A3,downstream_gene_variant,,ENST00000476634,;SLC2A3,downstream_gene_variant,,ENST00000541671,;SLC2A3,downstream_gene_variant,,ENST00000544936,;	uc001qtr.2	c.799C>T	1040/3915	5	1			c.799C>T						12	SNP	c.(799-801)CGA>TGA	63	63			ovary(3)|pancreas(1)	4	Broad	solute carrier family 2 (facilitated glucose			8082342		0.473	ENSG00000059804	14319	g.chr12:8082342G>A	carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	Colon(96;424 1461 14416 20933 23688)			Colon(96;424 1461 14416 20933 23688)			6.077298	KEEP	7	2	-1	37	37	7	2	-1	17.515273	37	37	0.098592	1	0	0	0	0	0	1	0	0	--	--		0	A			SLC2A3_uc001qts.2_3'UTR	120	GBM-12-0619-TP	p.R267*	G	ATGGGCTGTCGGTAGCTGGAC	NM_006931	NP_008862	8082342	P11169	GTR3_HUMAN	0		Kidney(36;0.0866)	6	1061	-	A	A			Nonsense_Mutation	267			Cytoplasmic (Potential).			
SLC2A4	6517	broad.mit.edu	GRCh37	17	7187697	7187697	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A			TCGA-06-2564-01	TCGA-06-2564-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317370.8:c.726G>A		p.X242_splice	ENST00000317370	NM_001042.2	242	aaG/aaA	0			1			A	K	uc002gfp.2	protein_coding	YES	CCDS11097.1			726/1530										0	c.(724-726)AAG>AAA			Pfam_domain:PF00083,PROSITE_profiles:PS50850,hmmpanther:PTHR24063,hmmpanther:PTHR24063:SF14,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00879	glucose transporter 4				ENSP00000320935		11-Jun	8.24E-06					1.51E-05			rs749829146,COSM2152938	11-Jun	.		ENST00000317370	Transcript	1		carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding	ENSG00000181856	g.chr17:7187697G>A	11009			LOW								--	--	1																																		SLC2A4_uc002gfo.2_Silent_p.K242K|SLC2A4_uc010cmd.2_RNA	0,1	1			p.K242K	NM_001042	NP_001033			0,1	GTR4_HUMAN	SLC2A4	HGNC	P14672	GTR4_HUMAN					6	926	+			UPI000004F0B3	242			Cytoplasmic (Potential).		SNV	SLC2A4,splice_region_variant,p.=,ENST00000317370,NM_001042.2;SLC2A4,splice_region_variant,p.=,ENST00000424875,;SLC2A4,splice_region_variant,p.=,ENST00000571308,;YBX2,downstream_gene_variant,,ENST00000007699,NM_015982.3;YBX2,downstream_gene_variant,,ENST00000571464,;RP1-4G17.2,upstream_gene_variant,,ENST00000576271,;SLC2A4,missense_variant,p.Glu204Lys,ENST00000570783,;SLC2A4,splice_region_variant,p.=,ENST00000572485,;YBX2,downstream_gene_variant,,ENST00000571485,;YBX2,downstream_gene_variant,,ENST00000571834,;	uc002gfp.2	c.726G>A	994/3426	1	1			c.726G>A						17	SNP	c.(724-726)AAG>AAA	55	55				0	Broad	glucose transporter 4			7187697		0.632	ENSG00000181856	14320	g.chr17:7187697G>A	carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding							41.411062	KEEP	4	14	-1	18	17	4	14	-1	42.166983	18	17	0.357143	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC2A4_uc002gfo.2_Silent_p.K242K|SLC2A4_uc010cmd.2_RNA	87	GBM-06-2564-TP	p.K242K	G	CTGCCAGAAAGAGTAAGCTCT	NM_001042	NP_001033	7187697	P14672	GTR4_HUMAN	0			6	926	+	A	A			Silent	242			Cytoplasmic (Potential).			
SLC2A6	0	broad.mit.edu	GRCh37	9	136338317	136338317	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1977-01	TCGA-32-1977-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371899.4:c.1278C>T	p.Pro426=	p.P426=	ENST00000371899	NM_017585.3	426	ccC/ccT	0			1			A	P	uc004cee.2	protein_coding	YES	CCDS6975.1			1278/1524										0	c.(1276-1278)CCC>CCT			Gene3D:1.20.1250.20,Pfam_domain:PF00083,Prints_domain:PR00171,PROSITE_profiles:PS50850,hmmpanther:PTHR24063,hmmpanther:PTHR24063:SF47,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00879,Transmembrane_helices:TMhelix	solute carrier family 2 (facilitated glucose				ENSP00000360966		10-Sep	1.66E-05			0.000209		2.61E-05			rs782516532,COSM3413423	10-Sep	.		ENST00000371899	Transcript				integral to membrane|plasma membrane	D-glucose transmembrane transporter activity	ENSG00000160326	g.chr9:136338317G>A	11011			LOW								--	--	1																																		SLC2A6_uc004cef.2_Silent_p.P364P|SLC2A6_uc004ceg.2_Silent_p.P403P	0,1	1			p.P426P	NM_017585	NP_060055			0,1	GTR6_HUMAN	SLC2A6	HGNC	Q9UGQ3	GTR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)			9	1373	-			UPI0000001BE8	426			Cytoplasmic (Potential).		SNV	SLC2A6,synonymous_variant,p.=,ENST00000371899,NM_017585.3;SLC2A6,synonymous_variant,p.=,ENST00000371897,NM_001145099.1;CACFD1,downstream_gene_variant,,ENST00000316948,NM_017586.3;CACFD1,downstream_gene_variant,,ENST00000291722,NM_001135775.2;CACFD1,downstream_gene_variant,,ENST00000542192,NM_001242370.1;CACFD1,downstream_gene_variant,,ENST00000540581,NM_001242369.1;SLC2A6,downstream_gene_variant,,ENST00000432868,;SLC2A6,downstream_gene_variant,,ENST00000414172,;SLC2A6,non_coding_transcript_exon_variant,,ENST00000485978,;CACFD1,downstream_gene_variant,,ENST00000474734,;	uc004cee.2	c.1278C>T	1356/2528	2	2			c.1278C>T						9	SNP	c.(1276-1278)CCC>CCT	32	32				0	Broad	solute carrier family 2 (facilitated glucose			136338317		0.672	ENSG00000160326	14323	g.chr9:136338317G>A		integral to membrane|plasma membrane	D-glucose transmembrane transporter activity							10.759568	KEEP	4	1	-1	14	7	4	1	-1	13.058775	14	7	0.192308	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC2A6_uc004cef.2_Silent_p.P364P|SLC2A6_uc004ceg.2_Silent_p.P403P	229	GBM-32-1977-TP	p.P426P	G	GGGCACGCAGGGGCAGGACCT	NM_017585	NP_060055	136338317	Q9UGQ3	GTR6_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)	9	1373	-	A	A			Silent	426			Cytoplasmic (Potential).			
SLC2A8	0	broad.mit.edu	GRCh37	9	130165020	130165020	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-74-6573-01	TCGA-74-6573-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373371.3:c.711delC	p.Ile237MetfsTer27	p.I237Mfs*27	ENST00000373371	NM_014580.4	237	atC/at	0			1			-	I/X	uc004bqu.2	protein_coding	YES	CCDS6870.1			711/1434									ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	c.(709-711)ATCfs			PROSITE_profiles:PS50850,hmmpanther:PTHR24063:SF49,hmmpanther:PTHR24063,Pfam_domain:PF00083,TIGRFAM_domain:TIGR00879,Superfamily_domains:SSF103473	solute carrier family 2 (facilitated glucose				ENSP00000362469		10-May										10-May	.		ENST00000373371	Transcript				cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity	ENSG00000136856	g.chr9:130165020delC	13812			HIGH								--	--	1																																		SLC2A8_uc010mxj.2_Frame_Shift_Del_p.I237fs|SLC2A8_uc004bqv.2_5'Flank		1			p.I237fs	NM_014580	NP_055395				GTR8_HUMAN	SLC2A8	HGNC	Q9NY64	GTR8_HUMAN			Q5VVW5_HUMAN,Q5VVV3_HUMAN		5	756	+			UPI000003E7A8	237			Cytoplasmic (Potential).		deletion	SLC2A8,frameshift_variant,p.Ile237MetfsTer27,ENST00000373371,NM_014580.4;SLC2A8,frameshift_variant,p.Ile237MetfsTer27,ENST00000373360,NM_001271711.1;SLC2A8,frameshift_variant,p.Ile76MetfsTer27,ENST00000430147,;SLC2A8,frameshift_variant,p.Ile74MetfsTer27,ENST00000451404,NM_001271712.1;SLC2A8,frameshift_variant,p.Ile102MetfsTer27,ENST00000423934,;SLC2A8,frameshift_variant,p.Ile102MetfsTer80,ENST00000439597,;SLC2A8,frameshift_variant,p.Ile168MetfsTer27,ENST00000419917,;SLC2A8,frameshift_variant,p.Ile147MetfsTer?,ENST00000419132,;SLC2A8,intron_variant,,ENST00000373352,;SLC2A8,non_coding_transcript_exon_variant,,ENST00000484617,;SLC2A8,upstream_gene_variant,,ENST00000485806,;SLC2A8,upstream_gene_variant,,ENST00000489239,;SLC2A8,upstream_gene_variant,,ENST00000477027,;SLC2A8,upstream_gene_variant,,ENST00000484208,;	uc004bqu.2	c.711delC	800/2172	5	5			c.711delC						9	DEL	c.(709-711)ATCfs	42	42			ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	Broad	solute carrier family 2 (facilitated glucose			130165020		0.677	ENSG00000136856	14325	g.chr9:130165020delC		cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity																				0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			SLC2A8_uc010mxj.2_Frame_Shift_Del_p.I237fs|SLC2A8_uc004bqv.2_5'Flank	260	GBM-74-6573-TP	p.I237fs	C	ACCCCCCCATCGGGGCTGAGC	NM_014580	NP_055395	130165020	Q9NY64	GTR8_HUMAN	0			5	756	+	-	-			Frame_Shift_Del	237			Cytoplasmic (Potential).			
SLC30A3	7781	broad.mit.edu	GRCh37	2	27481034	27481034	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0210-01	TCGA-06-0210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000233535.4:c.419G>A	p.Arg140His	p.R140H	ENST00000233535	NM_003459.4	140	cGt/cAt	0			1			T	R/H	uc002rjk.2	protein_coding	YES	CCDS1743.1			419/1167										0	c.(418-420)CGT>CAT			Superfamily_domains:0054606,Gene3D:3h90A01,Pfam_domain:PF01545,hmmpanther:PTHR11562,hmmpanther:PTHR11562:SF36,TIGRFAM_domain:TIGR01297	solute carrier family 30 (zinc transporter),				ENSP00000233535		8-Mar									COSM3407790	8-Mar	.		ENST00000233535	Transcript			regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	ENSG00000115194	g.chr2:27481034C>T	11014			MODERATE		4.17	high	getma.org/?cm=msa&ty=f&p=ZNT3_HUMAN&rb=76&re=376&var=R140H	NA	getma.org/?cm=var&var=hg19,2,27481034,C,T&fts=all	R140H	--	--	1																																		SLC30A3_uc002rjj.2_5'UTR|SLC30A3_uc010ylh.1_Missense_Mutation_p.R135H	1	1		probably_damaging(1)	p.R140H	NM_003459	NP_003450		deleterious(0)	1	ZNT3_HUMAN	SLC30A3	HGNC	Q99726	ZNT3_HUMAN			C9JM13_HUMAN,C9JHZ9_HUMAN,C9J1K4_HUMAN		3	605	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		UPI000006D0B4	140			Cytoplasmic (Potential).		SNV	SLC30A3,missense_variant,p.Arg140His,ENST00000233535,NM_003459.4;SLC30A3,missense_variant,p.Arg135His,ENST00000447008,;SLC30A3,missense_variant,p.Arg127His,ENST00000426924,;SLC30A3,missense_variant,p.Arg129His,ENST00000445870,;SLC30A3,missense_variant,p.Arg91His,ENST00000432351,;SLC30A3,missense_variant,p.Arg118His,ENST00000424577,;SLC30A3,missense_variant,p.Arg91His,ENST00000426569,;SLC30A3,missense_variant,p.Arg91His,ENST00000450118,;SLC30A3,non_coding_transcript_exon_variant,,ENST00000497341,;SLC30A3,non_coding_transcript_exon_variant,,ENST00000486309,;SLC30A3,upstream_gene_variant,,ENST00000482990,;	uc002rjk.2	c.419G>A	772/2260	2	2			c.419G>A						2	SNP	c.(418-420)CGT>CAT	43	43				0	Broad	solute carrier family 30 (zinc transporter),			27481034		0.642	ENSG00000115194	14330	g.chr2:27481034C>T	regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity							83.196702	KEEP	28	23	-1	97	135	28	23	-1	106.003107	97	135	0.180672	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC30A3_uc002rjj.2_5'UTR|SLC30A3_uc010ylh.1_Missense_Mutation_p.R135H	47	GBM-06-0210-TP	p.R140H	C	CTTACCTGAACGGTGCCAGCC	NM_003459	NP_003450	27481034	Q99726	ZNT3_HUMAN	0			3	605	-	T	T	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Missense_Mutation	140			Cytoplasmic (Potential).			
SLC30A5	0	broad.mit.edu	GRCh37	5	68411085	68411085	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-41-2572-01	TCGA-41-2572-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396591.3:c.634C>G	p.Leu212Val	p.L212V	ENST00000396591	NM_022902.4	212	Ctg/Gtg	0			1			G	L/V	uc003jvh.2	protein_coding	YES	CCDS3996.1			634/2298									central_nervous_system(1)	1	c.(634-636)CTG>GTG			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11562,hmmpanther:PTHR11562:SF24	solute carrier family 30 (zinc transporter),				ENSP00000379836		16-Aug									COSM3410380	16-Aug	.		ENST00000396591	Transcript			cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity	ENSG00000145740	g.chr5:68411085C>G	19089			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=ZNT5_HUMAN&rb=201&re=400&var=L212V	NA	getma.org/?cm=var&var=hg19,5,68411085,C,G&fts=all	L212V	--	--	1																																		SLC30A5_uc003jvj.2_5'Flank|SLC30A5_uc003jvk.2_5'Flank|SLC30A5_uc003jvi.2_Missense_Mutation_p.L41V	1	1		benign(0.008)	p.L212V	NM_022902	NP_075053		tolerated(0.32)	1	ZNT5_HUMAN	SLC30A5	HGNC	Q8TAD4	ZNT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	Q9H9X0_HUMAN,Q9BY48_HUMAN,Q9BTR6_HUMAN		8	835	+		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)	UPI0000073958	212			Helical; (Potential).		SNV	SLC30A5,missense_variant,p.Leu212Val,ENST00000396591,NM_022902.4;CTC-498J12.3,non_coding_transcript_exon_variant,,ENST00000504129,;SLC30A5,non_coding_transcript_exon_variant,,ENST00000507354,;SLC30A5,upstream_gene_variant,,ENST00000513937,;SLC30A5,upstream_gene_variant,,ENST00000512367,;	uc003jvh.2	c.634C>G	1244/4360	3	3			c.634C>G						5	SNP	c.(634-636)CTG>GTG	55	55			central_nervous_system(1)	1	Broad	solute carrier family 30 (zinc transporter),			68411085		0.373	ENSG00000145740	14332	g.chr5:68411085C>G	cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity							18.374144	KEEP	6	8	-1	69	70	6	8	-1	38.643256	69	70	0.101562	1	0	0	0	0	1	0	0	0	--	--		0	G			SLC30A5_uc003jvj.2_5'Flank|SLC30A5_uc003jvk.2_5'Flank|SLC30A5_uc003jvi.2_Missense_Mutation_p.L41V	251	GBM-41-2572-TP	p.L212V	C	ATTGCTAGTACTGGCTTTGTG	NM_022902	NP_075053	68411085	Q8TAD4	ZNT5_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	8	835	+	G	G		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)	Missense_Mutation	212			Helical; (Potential).			
SLC30A9	0	broad.mit.edu	GRCh37	4	42080309	42080309	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-26-6173-01	TCGA-26-6173-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264451.7:c.1629A>G	p.Gly543=	p.G543=	ENST00000264451	NM_006345.3	543	ggA/ggG	0			1			G	G	uc003gwl.2	protein_coding	YES	CCDS3465.1			1629/1707									central_nervous_system(2)|ovary(1)	3	c.(1627-1629)GGA>GGG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13414	solute carrier family 30 (zinc transporter),				ENSP00000264451		17/18									COSM3409316	17/18	.		ENST00000264451	Transcript			nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	ENSG00000014824	g.chr4:42080309A>G	1329			LOW								--	--	1																																		SLC30A9_uc011byx.1_Silent_p.G303G	1	1			p.G543G	NM_006345	NP_006336			1	ZNT9_HUMAN	SLC30A9	HGNC	Q6PML9	ZNT9_HUMAN					17	1775	+			UPI000013D51C	543					SNV	SLC30A9,synonymous_variant,p.=,ENST00000264451,NM_006345.3;SLC30A9,3_prime_UTR_variant,,ENST00000513699,;SLC30A9,non_coding_transcript_exon_variant,,ENST00000509683,;SLC30A9,non_coding_transcript_exon_variant,,ENST00000505523,;	uc003gwl.2	c.1629A>G	1809/6218	3	3			c.1629A>G						4	SNP	c.(1627-1629)GGA>GGG	6	6			central_nervous_system(2)|ovary(1)	3	Broad	solute carrier family 30 (zinc transporter),			42080309		0.239	ENSG00000014824	14336	g.chr4:42080309A>G	nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity							-9.93213	KEEP	4	0	-1	42	35	4	0	-1	6.600184	42	35	0.041096	1	0	0	0	0	0	0	1	0	--	--		0	G			SLC30A9_uc011byx.1_Silent_p.G303G	187	GBM-26-6173-TP	p.G543G	A	ATACTTTAGGAGCTGAAGTAG	NM_006345	NP_006336	42080309	Q6PML9	ZNT9_HUMAN	0			17	1775	+	G	G			Silent	543						
SLC32A1	140679	broad.mit.edu	GRCh37	20	37356997	37356997	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217420.1:c.1293G>A	p.Trp431Ter	p.W431*	ENST00000217420	NM_080552.2	431	tgG/tgA	0			1			A	W/*	uc002xjc.2	protein_coding	YES	CCDS13307.1			1293/1578										0	c.(1291-1293)TGG>TGA			Pfam_domain:PF01490,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF221	solute carrier family 32, member 1	Glycine(DB00145)			ENSP00000217420		2-Feb									COSM2149784	2-Feb	.		ENST00000217420	Transcript			neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	ENSG00000101438	g.chr20:37356997G>A	11018			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,20,37356997,G,A&fts=all	W431*	--	--	1																																			1	1			p.W431*	NM_080552	NP_542119			1	VIAAT_HUMAN	SLC32A1	HGNC	Q9H598	VIAAT_HUMAN					2	1556	+		Myeloproliferative disorder(115;0.00878)	UPI0000043423	431			Lumenal, vesicle (Potential).		SNV	SLC32A1,stop_gained,p.Trp431Ter,ENST00000217420,NM_080552.2;	uc002xjc.2	c.1293G>A	1556/2574	5	1			c.1293G>A						20	SNP	c.(1291-1293)TGG>TGA	60	60				0	Broad	solute carrier family 32, member 1		Glycine(DB00145)	37356997		0.662	ENSG00000101438	14339	g.chr20:37356997G>A	neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity							105.649107	KEEP	15	19	-1	25	16	15	19	-1	105.676357	25	16	0.478873	1	0	0	0	0	0	1	0	0	--	--		0	A				23	GBM-06-0145-TP	p.W431*	G	TGAAGTCCTGGGGGCTGACGC	NM_080552	NP_542119	37356997	Q9H598	VIAAT_HUMAN	0			2	1556	+	A	A		Myeloproliferative disorder(115;0.00878)	Nonsense_Mutation	431			Lumenal, vesicle (Potential).			
SLC32A1	0	broad.mit.edu	GRCh37	20	37356106	37356106	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-27-2524-01	TCGA-27-2524-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217420.1:c.402G>C	p.Val134=	p.V134=	ENST00000217420	NM_080552.2	134	gtG/gtC	0			1			C	V	uc002xjc.2	protein_coding	YES	CCDS13307.1			402/1578										0	c.(400-402)GTG>GTC			Pfam_domain:PF01490,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF221	solute carrier family 32, member 1	Glycine(DB00145)			ENSP00000217420		2-Feb									COSM3405071	2-Feb	.		ENST00000217420	Transcript			neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	ENSG00000101438	g.chr20:37356106G>C	11018			LOW								--	--	1																																			1	1			p.V134V	NM_080552	NP_542119			1	VIAAT_HUMAN	SLC32A1	HGNC	Q9H598	VIAAT_HUMAN					2	665	+		Myeloproliferative disorder(115;0.00878)	UPI0000043423	134			Helical; (Potential).		SNV	SLC32A1,synonymous_variant,p.=,ENST00000217420,NM_080552.2;	uc002xjc.2	c.402G>C	665/2574	3	3			c.402G>C						20	SNP	c.(400-402)GTG>GTC	15	15				0	Broad	solute carrier family 32, member 1		Glycine(DB00145)	37356106		0.647	ENSG00000101438	14339	g.chr20:37356106G>C	neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity							104.386035	KEEP	16	24	-1	30	30	16	24	-1	105.427963	30	30	0.380952	1	0	0	0	0	0	0	1	0	--	--		0	C				202	GBM-27-2524-TP	p.V134V	G	GCATGTTCGTGCTGGGCCTAC	NM_080552	NP_542119	37356106	Q9H598	VIAAT_HUMAN	0			2	665	+	C	C		Myeloproliferative disorder(115;0.00878)	Silent	134			Helical; (Potential).			
SLC33A1	0	broad.mit.edu	GRCh37	3	155547581	155547581	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01	TCGA-19-5950-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359479.3:c.1378G>A	p.Gly460Arg	p.G460R	ENST00000359479	NM_004733.3	460	Gga/Aga	0			1			T	G/R	uc003fan.3	protein_coding		CCDS3173.1			1378/1650									ovary(2)|large_intestine(1)|pancreas(1)	4	c.(1378-1380)GGA>AGA			Superfamily_domains:SSF103473,Pfam_domain:PF13000,hmmpanther:PTHR12778:SF3,hmmpanther:PTHR12778	acetyl-coenzyme A transporter				ENSP00000352456		7-May									COSM3408379	7-May	.		ENST00000359479	Transcript	1		cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	ENSG00000169359	g.chr3:155547581C>T	95			MODERATE		3.315	medium	getma.org/?cm=msa&ty=f&p=ACATN_HUMAN&rb=382&re=546&var=G460R	NA	getma.org/?cm=var&var=hg19,3,155547581,C,T&fts=all	G460R	--	--	1																																		SLC33A1_uc003fao.1_Missense_Mutation_p.G460R|SLC33A1_uc003fap.1_RNA	1			possibly_damaging(0.685)	p.G460R	NM_004733	NP_004724		deleterious(0)	1	ACATN_HUMAN	SLC33A1	HGNC	O00400	ACATN_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)				5	1759	-			UPI000006E3FD	460			Cytoplasmic (Potential).		SNV	SLC33A1,missense_variant,p.Gly460Arg,ENST00000392845,;SLC33A1,missense_variant,p.Gly460Arg,ENST00000359479,NM_004733.3,NM_001190992.1;SLC33A1,missense_variant,p.Gly180Arg,ENST00000475842,;SLC33A1,missense_variant,p.Gly96Arg,ENST00000496772,;SLC33A1,3_prime_UTR_variant,,ENST00000468581,;	uc003fan.3	c.1378G>A	1810/2404	2	2			c.1378G>A						3	SNP	c.(1378-1380)GGA>AGA	33	33			ovary(2)|large_intestine(1)|pancreas(1)	4	Broad	acetyl-coenzyme A transporter			155547581		0.428	ENSG00000169359	14340	g.chr3:155547581C>T	cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity							17.292228	KEEP	6	5	-1	38	38	6	5	-1	28.282775	38	38	0.125	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC33A1_uc003fao.1_Missense_Mutation_p.G460R|SLC33A1_uc003fap.1_RNA	170	GBM-19-5950-TP	p.G460R	C	GGCCAGTTTCCTCCCAGATTG	NM_004733	NP_004724	155547581	O00400	ACATN_HUMAN	0	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		5	1759	-	T	T			Missense_Mutation	460			Cytoplasmic (Potential).			
SLC34A2	10568	broad.mit.edu	GRCh37	4	25664233	25664236	+	splice_donor_variant,coding_sequence_variant	Splice_Site	DEL	AAGT	AAGT	-			TCGA-06-0124-01	TCGA-06-0124-01	AAGT	AAGT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382051.3:c.112+3_112+6del		p.X38_splice	ENST00000382051	NM_006424.2	38		0			1			-		uc003grr.2	protein_coding	YES	CCDS3435.1			111-?/2073									skin(3)|ovary(1)|kidney(1)	5	c.e2+1				solute carrier family 34 (sodium phosphate),				ENSP00000371483		13-Feb										13-Feb	.		ENST00000382051	Transcript	1		cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	ENSG00000157765	g.chr4:25664233_25664236delAAGT	11020	4		HIGH	12-Feb							--	--	1																																		SLC34A2_uc003grs.2_Splice_Site_p.N38_splice|SLC34A2_uc010iev.2_Splice_Site_p.N38_splice		1			p.T38_splice	NM_006424	NP_006415				NPT2B_HUMAN	SLC34A2	HGNC	O95436	NPT2B_HUMAN			D6RBC0_HUMAN		2	193	+		Breast(46;0.0503)	UPI000013DF24						deletion	SLC34A2,splice_donor_variant,,ENST00000382051,NM_006424.2,NM_001177998.1;SLC34A2,splice_donor_variant,,ENST00000503434,NM_001177999.1;SLC34A2,splice_donor_variant,,ENST00000504570,;SLC34A2,splice_donor_variant,,ENST00000507530,;SLC34A2,splice_donor_variant,,ENST00000513204,;SLC34A2,upstream_gene_variant,,ENST00000510033,;	uc003grr.2	c.112_splice	161-?/4122	5	5			c.112_splice						4	DEL	c.e2+1	30	30			skin(3)|ovary(1)|kidney(1)	5	Broad	solute carrier family 34 (sodium phosphate),			25664236		0.534	ENSG00000157765	14342	g.chr4:25664233_25664236delAAGT	cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity																				0.26	1	1	0	1	0	0	0	0	1	--	--		0	-			SLC34A2_uc003grs.2_Splice_Site_p.N38_splice|SLC34A2_uc010iev.2_Splice_Site_p.N38_splice	11	GBM-06-0124-TP	p.T38_splice	AAGT	AGACCAACAAAAGTAAGTGTCGCT	NM_006424	NP_006415	25664233	O95436	NPT2B_HUMAN	0			2	193	+	-	-		Breast(46;0.0503)	Splice_Site							
SLC34A3	142680	broad.mit.edu	GRCh37	9	140128961	140128961	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs138798032		TCGA-06-0750-01	TCGA-06-0750-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000538474.1:c.1187C>T	p.Thr396Met	p.T396M	ENST00000538474	NM_001177317.1	396	aCg/aTg	0	T:0.0002		1			T	T/M	uc004cmf.1	protein_coding		CCDS7038.1			1187/1800										0	c.(1186-1188)ACG>ATG			Pfam_domain:PF02690,hmmpanther:PTHR10010,hmmpanther:PTHR10010:SF22,TIGRFAM_domain:TIGR01013,Transmembrane_helices:TMhelix	solute carrier family 34 (sodium phosphate),			T:0.0001	ENSP00000355353		13-Nov	5.03E-05	0.00013			0.000179	5.12E-05		6.21E-05	rs138798032,COSM2151979	13-Nov	.		ENST00000361134	Transcript	1		cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	ENSG00000198569	g.chr9:140128961C>T	20305			MODERATE		1.515	low	getma.org/?cm=msa&ty=f&p=NPT2C_HUMAN&rb=338&re=477&var=T396M	NA	getma.org/?cm=var&var=hg19,9,140128961,C,T&fts=all	T396M	--	--	1																																		SLC34A3_uc011met.1_Missense_Mutation_p.T396M	0,1			probably_damaging(0.998)	p.T396M	NM_080877	NP_543153		deleterious(0)	0,1	NPT2C_HUMAN	SLC34A3	HGNC	Q8N130	NPT2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	D9N3A0_HUMAN		11	1373	+	all_cancers(76;0.0926)		UPI00004577EA	396			Extracellular (Potential).		SNV	SLC34A3,missense_variant,p.Thr396Met,ENST00000538474,NM_001177317.1,NM_001177316.1;SLC34A3,missense_variant,p.Thr396Met,ENST00000361134,NM_080877.2;RNF224,downstream_gene_variant,,ENST00000445101,NM_001190228.1;	uc004cmf.1	c.1187C>T	1373/2124	2	2			c.1187C>T						9	SNP	c.(1186-1188)ACG>ATG	47	47				0	Broad	solute carrier family 34 (sodium phosphate),			140128961		0.721	ENSG00000198569	14343	g.chr9:140128961C>T	cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity							23.698968	KEEP	11	12	-1	15	13	11	12	-1	23.711702	15	13	0.470588	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC34A3_uc011met.1_Missense_Mutation_p.T396M	70	GBM-06-0750-TP	p.T396M	C	AGCGTCTTCACGGCGGCCGTC	NM_080877	NP_543153	140128961	Q8N130	NPT2C_HUMAN	0	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	11	1373	+	T	T	all_cancers(76;0.0926)		Missense_Mutation	396			Extracellular (Potential).			
SLC34A3	142680	broad.mit.edu	GRCh37	9	140128881	140128881	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000538474.1:c.1107G>A	p.Pro369=	p.P369=	ENST00000538474	NM_001177317.1	369	ccG/ccA	0		A:0	1	A:0.0014		A	P	uc004cmf.1	protein_coding		CCDS7038.1			1107/1800										0	c.(1105-1107)CCG>CCA			Pfam_domain:PF02690,hmmpanther:PTHR10010,hmmpanther:PTHR10010:SF22,TIGRFAM_domain:TIGR01013,Transmembrane_helices:TMhelix	solute carrier family 34 (sodium phosphate),		A:0		ENSP00000355353	A:0	13-Nov	0.000243					6.83E-05	0.00131	0.00148	rs550877277,COSM3413487	13-Nov	common_variant		ENST00000361134	Transcript	1	A:0.0006	cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	ENSG00000198569	g.chr9:140128881G>A	20305			LOW								--	--	1																																		SLC34A3_uc011met.1_Silent_p.P369P	0,1				p.P369P	NM_080877	NP_543153	A:0.002		0,1	NPT2C_HUMAN	SLC34A3	HGNC	Q8N130	NPT2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	D9N3A0_HUMAN		11	1293	+	all_cancers(76;0.0926)		UPI00004577EA	369			Helical; Name=M5; (Potential).		SNV	SLC34A3,synonymous_variant,p.=,ENST00000538474,NM_001177317.1,NM_001177316.1;SLC34A3,synonymous_variant,p.=,ENST00000361134,NM_080877.2;RNF224,downstream_gene_variant,,ENST00000445101,NM_001190228.1;	uc004cmf.1	c.1107G>A	1293/2124	2	2			c.1107G>A						9	SNP	c.(1105-1107)CCG>CCA	41	41				0	Broad	solute carrier family 34 (sodium phosphate),			140128881		0.716	ENSG00000198569	14343	g.chr9:140128881G>A	cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity							59.625839	KEEP	17	12	-1	3	6	17	12	-1	61.512011	3	6	0.791667	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC34A3_uc011met.1_Silent_p.P369P	102	GBM-06-5858-TP	p.P369P	G	TCCCCTTCCCGCTGGGCTGGC	NM_080877	NP_543153	140128881	Q8N130	NPT2C_HUMAN	0	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	11	1293	+	A	A	all_cancers(76;0.0926)		Silent	369			Helical; Name=M5; (Potential).			
SLC35A2	0	broad.mit.edu	GRCh37	X	48762551	48762552	+	frameshift_variant	Frame_Shift_Del	DEL	GA	GA	-			TCGA-14-1825-01	TCGA-14-1825-01	GA	GA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000247138.5:c.634_635delTC	p.Ser212LeufsTer9	p.S212Lfs*9	ENST00000247138	NM_005660.1	212	TCc/c	0			1			-	S/X	uc004dlo.1	protein_coding	YES	CCDS14311.1			634-635/1191									breast(1)	1	c.(634-636)TCCfs			Transmembrane_helices:TMhelix,hmmpanther:PTHR10231:SF43,hmmpanther:PTHR10231,TIGRFAM_domain:TIGR00803,Pfam_domain:PF04142,PIRSF_domain:PIRSF005799	solute carrier family 35, member A2 isoform a				ENSP00000247138		5-Apr										5-Apr	.		ENST00000247138	Transcript	1		galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity	ENSG00000102100	g.chrX:48762551_48762552delGA	11022			HIGH								--	--	1																																		SLC35A2_uc011mml.1_Frame_Shift_Del_p.S225fs|SLC35A2_uc004dlp.1_Frame_Shift_Del_p.S212fs|SLC35A2_uc011mmm.1_Frame_Shift_Del_p.S240fs|SLC35A2_uc011mmn.1_Frame_Shift_Del_p.S151fs|SLC35A2_uc004dlr.1_Intron|SLC35A2_uc004dlq.2_Intron		1			p.S212fs	NM_005660	NP_005651				S35A2_HUMAN	SLC35A2	HGNC	P78381	S35A2_HUMAN			C9JCV5_HUMAN		4	638_639	-			UPI0000137AEA	212			Helical; (Potential).		deletion	SLC35A2,frameshift_variant,p.Ser212LeufsTer9,ENST00000376521,NM_001042498.2;SLC35A2,frameshift_variant,p.Ser240LeufsTer9,ENST00000452555,NM_001282651.1;SLC35A2,frameshift_variant,p.Ser212LeufsTer9,ENST00000247138,NM_005660.1;SLC35A2,frameshift_variant,p.Ser151LeufsTer9,ENST00000413561,NM_001282649.1;SLC35A2,frameshift_variant,p.Ser140LeufsTer9,ENST00000446885,;SLC35A2,intron_variant,,ENST00000445167,NM_001032289.1,NM_001282648.1;SLC35A2,intron_variant,,ENST00000376515,;SLC35A2,intron_variant,,ENST00000376529,NM_001282647.1;PQBP1,downstream_gene_variant,,ENST00000218224,NM_005710.2;PQBP1,downstream_gene_variant,,ENST00000376563,NM_001167989.1,NM_001032383.1,NM_001032381.1,NM_001032382.1;PQBP1,downstream_gene_variant,,ENST00000447146,NM_001167990.1;PQBP1,downstream_gene_variant,,ENST00000396763,NM_001032384.1;PQBP1,downstream_gene_variant,,ENST00000376566,NM_144495.2;PQBP1,downstream_gene_variant,,ENST00000443648,;PQBP1,downstream_gene_variant,,ENST00000247140,;SLC35A2,downstream_gene_variant,,ENST00000376512,;PQBP1,downstream_gene_variant,,ENST00000456306,;PQBP1,downstream_gene_variant,,ENST00000376548,;PQBP1,downstream_gene_variant,,ENST00000473764,;PQBP1,downstream_gene_variant,,ENST00000463529,;PQBP1,downstream_gene_variant,,ENST00000470059,;PQBP1,downstream_gene_variant,,ENST00000477997,;PQBP1,downstream_gene_variant,,ENST00000474671,;PQBP1,downstream_gene_variant,,ENST00000486150,;PQBP1,downstream_gene_variant,,ENST00000465859,;PQBP1,downstream_gene_variant,,ENST00000470062,;PQBP1,downstream_gene_variant,,ENST00000472742,;	uc004dlo.1	c.634_635delTC	638-639/1451	5	5			c.634_635delTC						23	DEL	c.(634-636)TCCfs	20	20			breast(1)	1	Broad	solute carrier family 35, member A2 isoform a			48762552		0.649	ENSG00000102100	14345	g.chrX:48762551_48762552delGA	galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity																				0.67	1	1	0	1	0	0	0	0	0	--	--		0	-			SLC35A2_uc011mml.1_Frame_Shift_Del_p.S225fs|SLC35A2_uc004dlp.1_Frame_Shift_Del_p.S212fs|SLC35A2_uc011mmm.1_Frame_Shift_Del_p.S240fs|SLC35A2_uc011mmn.1_Frame_Shift_Del_p.S151fs|SLC35A2_uc004dlr.1_Intron|SLC35A2_uc004dlq.2_Intron	148	GBM-14-1825-TP	p.S212fs	GA	GAAGCCGGAGGAGAGACAGGAG	NM_005660	NP_005651	48762551	P78381	S35A2_HUMAN	0			4	638_639	-	-	-			Frame_Shift_Del	212			Helical; (Potential).			
SLC35A3	23443		GRCh37	1	100464899	100464899	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000370155.3:c.270A>C	p.Pro90=	p.P90=	ENST00000370155	NM_012243.2	90	ccA/ccC	0																																																																																																																																																																																																																																												
SLC35B2	347734		GRCh37	6	44222858	44222858	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000393812.3:c.884del	p.Tyr295LeufsTer8	p.Y295Lfs*8	ENST00000393812	NM_178148.2	295	tAt/tt	0																																																																																																																																																																																																																																												
SLC35B3	51000	broad.mit.edu	GRCh37	6	8422856	8422856	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-5858-01	TCGA-06-5858-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379660.4:c.421A>G	p.Ile141Val	p.I141V	ENST00000379660	NM_015948.3	141	Ata/Gta	0			1			C	I/V	uc010joe.2	protein_coding	YES	CCDS4508.1			421/1206										0	c.(421-423)ATA>GTA			Pfam_domain:PF08449,hmmpanther:PTHR10778,hmmpanther:PTHR10778:SF8	solute carrier family 35, member B3				ENSP00000368981		11-May									COSM3411313,COSM3411314	11-May	.		ENST00000379660	Transcript			transmembrane transport	Golgi membrane|integral to membrane		ENSG00000124786	g.chr6:8422856T>C	21601			MODERATE		0.95	low	getma.org/?cm=msa&ty=f&p=S35B3_HUMAN&rb=81&re=375&var=I141V	NA	getma.org/?cm=var&var=hg19,6,8422856,T,C&fts=all	I141V	--	--	1																																		SLC35B3_uc003mya.2_Missense_Mutation_p.I109V|SLC35B3_uc003myc.2_Intron|SLC35B3_uc003myb.2_Missense_Mutation_p.I141V|SLC35B3_uc011did.1_Missense_Mutation_p.I141V|SLC35B3_uc003myd.2_RNA	1,1	1		benign(0.326)	p.I141V	NM_001142541	NP_001136013		tolerated(0.19)	1,1	S35B3_HUMAN	SLC35B3	HGNC	Q9H1N7	S35B3_HUMAN					5	587	-	Ovarian(93;0.0569)		UPI0000071D1B	141					SNV	SLC35B3,missense_variant,p.Ile141Val,ENST00000379660,NM_015948.3,NM_001142541.1,NM_001142540.1;SLC35B3,missense_variant,p.Ile141Val,ENST00000339306,;SLC35B3,downstream_gene_variant,,ENST00000426876,;	uc010joe.2	c.421A>G	871/2137	4	4			c.421A>G						6	SNP	c.(421-423)ATA>GTA	34	34				0	Broad	solute carrier family 35, member B3			8422856		0.338	ENSG00000124786	14351	g.chr6:8422856T>C	transmembrane transport	Golgi membrane|integral to membrane		Melanoma(83;700 1353 9357 11478 30548)			Melanoma(83;700 1353 9357 11478 30548)			23.107216	KEEP	8	2	-1	21	41	8	2	-1	30.553243	21	41	0.153846	1	0	0	0	0	1	0	0	0	--	--		0	C			SLC35B3_uc003mya.2_Missense_Mutation_p.I109V|SLC35B3_uc003myc.2_Intron|SLC35B3_uc003myb.2_Missense_Mutation_p.I141V|SLC35B3_uc011did.1_Missense_Mutation_p.I141V|SLC35B3_uc003myd.2_RNA	102	GBM-06-5858-TP	p.I141V	T	TTTCCTGGTATTCTGTAAAAG	NM_001142541	NP_001136013	8422856	Q9H1N7	S35B3_HUMAN	0			5	587	-	C	C	Ovarian(93;0.0569)		Missense_Mutation	141						
SLC35C1	55343		GRCh37	11	45827648	45827648	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000314134.3:c.296C>T	p.Pro99Leu	p.P99L	ENST00000314134	NM_018389.4	99	cCt/cTt	0																																																																																																																																																																																																																																												
SLC35C2	51006		GRCh37	20	44979115	44979115	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000372227.1:c.1016T>C	p.Leu339Pro	p.L339P	ENST00000372227	NM_001281460.1	339	cTg/cCg	0																																																																																																																																																																																																																																												
SLC35D2	11046	broad.mit.edu	GRCh37	9	99084300	99084300	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-02-2483-01	TCGA-02-2483-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000253270.7:c.894C>T	p.Asn298=	p.N298=	ENST00000253270	NM_007001.2	298	aaC/aaT	0			1			A	N	uc004awc.2	protein_coding	YES	CCDS6717.1			894/1014										0	c.(892-894)AAC>AAT			Transmembrane_helices:TMhelix,hmmpanther:PTHR11132:SF46,hmmpanther:PTHR11132,Pfam_domain:PF03151	solute carrier family 35, member D2				ENSP00000253270		12-Nov									COSM3413860	12-Nov	.		ENST00000253270	Transcript				Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity	ENSG00000130958	g.chr9:99084300G>A	20799			LOW								--	--	1																																		SLC35D2_uc010msd.2_RNA|SLC35D2_uc010mse.2_Silent_p.N251N|SLC35D2_uc010msf.2_Silent_p.N210N|SLC35D2_uc004awd.2_Missense_Mutation_p.L141F	1	1			p.N298N	NM_007001	NP_008932			1	S35D2_HUMAN	SLC35D2	HGNC	Q76EJ3	S35D2_HUMAN			Q5VZJ2_HUMAN		11	970	-		Acute lymphoblastic leukemia(62;0.0167)	UPI000003778E	298			Helical; (Potential).		SNV	SLC35D2,synonymous_variant,p.=,ENST00000253270,NM_007001.2;SLC35D2,synonymous_variant,p.=,ENST00000375259,NM_001286990.1;SLC35D2,intron_variant,,ENST00000490599,;	uc004awc.2	c.894C>T	957/1613	1	1			c.894C>T						9	SNP	c.(892-894)AAC>AAT	55	55				0	Broad	solute carrier family 35, member D2			99084300		0.343	ENSG00000130958	14356	g.chr9:99084300G>A		Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity							-11.378505	KEEP	4	5	-1	59	86	4	5	-1	17.011321	59	86	0.052239	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC35D2_uc010msd.2_RNA|SLC35D2_uc010mse.2_Silent_p.N251N|SLC35D2_uc010msf.2_Silent_p.N210N|SLC35D2_uc004awd.2_Missense_Mutation_p.L141F	6	GBM-02-2483-TP	p.N298N	G	ACCCTACAAAGTTTAACAAAG	NM_007001	NP_008932	99084300	Q76EJ3	S35D2_HUMAN	0			11	970	-	A	A		Acute lymphoblastic leukemia(62;0.0167)	Silent	298			Helical; (Potential).			
SLC35D3	0	broad.mit.edu	GRCh37	6	137245675	137245675	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-27-2528-01	TCGA-27-2528-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331858.4:c.1092G>T	p.Arg364Ser	p.R364S	ENST00000331858	NM_001008783.1	364	agG/agT	0			1			T	R/S	uc003qhe.2	protein_coding	YES	CCDS34544.1			1092/1251									ovary(1)|central_nervous_system(1)	2	c.(1090-1092)AGG>AGT				solute carrier family 35, member D3				ENSP00000333591		2-Feb									COSM3410613	2-Feb	.		ENST00000331858	Transcript			carbohydrate transport	integral to membrane		ENSG00000182747	g.chr6:137245675G>T	15621			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=S35D3_HUMAN&rb=300&re=416&var=R364S	NA	getma.org/?cm=var&var=hg19,6,137245675,G,T&fts=all	R364S	--	--	1																																			1	1		benign(0)	p.R364S	NM_001008783	NP_001008783		tolerated_low_confidence(0.76)	1	S35D3_HUMAN	SLC35D3	HGNC	Q5M8T2	S35D3_HUMAN		GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)			2	1257	+	Colorectal(23;0.24)		UPI00003673E9	364					SNV	SLC35D3,missense_variant,p.Arg364Ser,ENST00000331858,NM_001008783.1;	uc003qhe.2	c.1092G>T	1257/2359	2	2			c.1092G>T						6	SNP	c.(1090-1092)AGG>AGT	32	32			ovary(1)|central_nervous_system(1)	2	Broad	solute carrier family 35, member D3			137245675		0.637	ENSG00000182747	14357	g.chr6:137245675G>T	carbohydrate transport	integral to membrane								15.773503	KEEP	6	8	0.428571429	20	20	6	8	0.428571429	19.95874	20	20	0.181818	1	0	0	0	0	1	0	0	0	--	--		0	T				205	GBM-27-2528-TP	p.R364S	G	AAGAGGTCAGGGGCAGCCCCC	NM_001008783	NP_001008783	137245675	Q5M8T2	S35D3_HUMAN	0		GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)	2	1257	+	T	T	Colorectal(23;0.24)		Missense_Mutation	364						
SLC35E4	339665	broad.mit.edu	GRCh37	22	31032455	31032455	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0879-01	TCGA-06-0879-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343605.4:c.19del	p.Glu7SerfsTer7	p.E7Sfs*7	ENST00000343605	NM_001001479.2	6	ccG/cc	0			1			-	P/X	uc003ais.1	protein_coding	YES	CCDS13882.1			18/1053										0	c.(16-18)CCGfs				solute carrier family 35, member E4				ENSP00000339626		2-Jan										2-Jan	.		ENST00000343605	Transcript				integral to membrane		ENSG00000100036	g.chr22:31032455delG	17058	1		HIGH								--	--	1																																		SLC35E4_uc003ait.2_5'UTR		1			p.P6fs	NM_001001479	NP_001001479				S35E4_HUMAN	SLC35E4	HGNC	Q6ICL7	S35E4_HUMAN					1	663	+			UPI0000198650	6					deletion	SLC35E4,frameshift_variant,p.Glu7SerfsTer7,ENST00000343605,NM_001001479.2;SLC35E4,frameshift_variant,p.Glu7SerfsTer7,ENST00000406566,;SLC35E4,frameshift_variant,p.Glu7SerfsTer7,ENST00000300385,;SLC35E4,upstream_gene_variant,,ENST00000451479,;	uc003ais.1	c.18delG	817/2714	5	5			c.18delG						22	DEL	c.(16-18)CCGfs	1	1				0	Broad	solute carrier family 35, member E4			31032455		0.701	ENSG00000100036	14360	g.chr22:31032455delG		integral to membrane																					0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			SLC35E4_uc003ait.2_5'UTR	75	GBM-06-0879-TP	p.P6fs	G	GCTGCCCGCCGGAGCACCATG	NM_001001479	NP_001001479	31032455	Q6ICL7	S35E4_HUMAN	0			1	663	+	-	-			Frame_Shift_Del	6						
SLC35E4	339665		GRCh37	22	31042730	31042730	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0151-01	TCGA-06-0151-01																				ENST00000343605.4:c.765G>T	p.Trp255Cys	p.W255C	ENST00000343605	NM_001001479.2	255	tgG/tgT	0																																																																																																																																																																																																																																												
SLC35F3	0	broad.mit.edu	GRCh37	1	234455909	234455909	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs149597390		TCGA-28-5204-01	TCGA-28-5204-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366617.3:c.1006G>A	p.Val336Ile	p.V336I	ENST00000366617		336	Gtc/Atc	0	A:0	A:0	1	A:0		A	V/I	uc001hwa.1	protein_coding					1006/1266									ovary(2)	2	c.(1006-1008)GTC>ATC			Transmembrane_helices:TMhelix,hmmpanther:PTHR19346,hmmpanther:PTHR19346:SF3	solute carrier family 35, member F3		A:0	A:0.0001	ENSP00000355576	A:0	7-Jun	3.29E-05		0.000173			1.50E-05		6.06E-05	rs149597390,COSM213663	7-Jun	.		ENST00000366617	Transcript		A:0.0002	transport	integral to membrane		ENSG00000183780	g.chr1:234455909G>A	23616			MODERATE		1.205	low	getma.org/?cm=msa&ty=f&p=S35F3_HUMAN&rb=224&re=421&var=V336I	NA	getma.org/?cm=var&var=hg19,1,234455909,G,A&fts=all	V336I	--	--	1																																		SLC35F3_uc001hvy.1_Missense_Mutation_p.V405I	0,1			probably_damaging(0.994)	p.V336I	NM_173508	NP_775779	A:0.001	deleterious(0.01)	0,1	S35F3_HUMAN	SLC35F3	HGNC	Q8IY50	S35F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00531)				6	1234	+	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	UPI00001AF636	336			Helical; (Potential).		SNV	SLC35F3,missense_variant,p.Val405Ile,ENST00000366618,NM_173508.2;SLC35F3,missense_variant,p.Val336Ile,ENST00000366617,;	uc001hwa.1	c.1006G>A	1234/2762	2	2			c.1006G>A						1	SNP	c.(1006-1008)GTC>ATC	33	33			ovary(2)	2	Broad	solute carrier family 35, member F3			234455909		0.294	ENSG00000183780	14363	g.chr1:234455909G>A	transport	integral to membrane								284.381624	KEEP	62	60	-1	69	81	62	60	-1	284.928635	69	81	0.447826	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC35F3_uc001hvy.1_Missense_Mutation_p.V405I	215	GBM-28-5204-TP	p.V336I	G	TCTTGGAATCGTCCTCAGCAT	NM_173508	NP_775779	234455909	Q8IY50	S35F3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.00531)		6	1234	+	A	A	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	Missense_Mutation	336			Helical; (Potential).			
SLC35F4	0	broad.mit.edu	GRCh37	14	58063582	58063582	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-26-6174-01	TCGA-26-6174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339762.6:c.34C>G	p.Leu12Val	p.L12V	ENST00000339762		12	Ctg/Gtg	0			1			C	L/V	uc001xdb.1	protein_coding	YES				34/1566									ovary(2)	2	c.(34-36)CTG>GTG				solute carrier family 35, member F4				ENSP00000342518		8-Jan									COSM3401364,COSM3401365	8-Jan	.		ENST00000339762	Transcript						ENSG00000151812	g.chr14:58063582G>C	19845			MODERATE								--	--	1																																		SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_5'UTR	1,1	1		benign(0)	p.L12V	NM_001080455	NP_001073924		tolerated_low_confidence(0.36)	1,1	S35F4_HUMAN	SLC35F4	HGNC							1	34	-			UPI00006C1432						SNV	SLC35F4,missense_variant,p.Leu12Val,ENST00000339762,;SLC35F4,5_prime_UTR_variant,,ENST00000554729,;SLC35F4,intron_variant,,ENST00000556826,NM_001206920.1;SLC35F4,intron_variant,,ENST00000557430,;SLC35F4,5_prime_UTR_variant,,ENST00000557254,;	uc001xdb.1	c.34C>G	34/1779	4	4			c.34C>G						14	SNP	c.(34-36)CTG>GTG	45	45			ovary(2)	2	Broad	solute carrier family 35, member F4			58063582		0.428	ENSG00000151812	14364	g.chr14:58063582G>C										12.417384	KEEP	4	4	-1	20	24	4	4	-1	18.289393	20	24	0.133333	1	0	0	0	0	1	0	0	0	--	--		0	C			SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_5'UTR	188	GBM-26-6174-TP	p.L12V	G	CCACTGGTCAGTTTGTGGAAG	NM_001080455	NP_001073924	58063582			0			1	34	-	C	C			Missense_Mutation							
SLC36A2	153201		GRCh37	5	150704898	150704898	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000335244.4:c.959G>A	p.Arg320Gln	p.R320Q	ENST00000335244	NM_181776.2	320	cGg/cAg	0																																																																																																																																																																																																																																												
SLC36A2	153201		GRCh37	5	150726999	150726999	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000335244.4:c.23A>T	p.Glu8Val	p.E8V	ENST00000335244	NM_181776.2	8	gAg/gTg	0																																																																																																																																																																																																																																												
SLC36A3	0	broad.mit.edu	GRCh37	5	150672978	150672978	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335230.3:c.351C>T	p.Tyr117=	p.Y117=	ENST00000335230	NM_181774.3	117	taC/taT	0			1			A	Y	uc003ltw.2	protein_coding		CCDS4314.1			351/1413									ovary(2)|skin(1)	3	c.(349-351)TAC>TAT			Pfam_domain:PF01490,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF203	solute carrier family 36, member 3 isoform 2				ENSP00000334750		10-Apr	0.000156			0.000118		0.000172		0.000396	rs780769405,COSM3410008	10-Apr	.		ENST00000335230	Transcript				integral to membrane		ENSG00000186334	g.chr5:150672978G>A	19659			LOW								--	--	1																																		GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_Silent_p.Y61Y|SLC36A3_uc003ltx.2_Silent_p.Y117Y	0,1				p.Y117Y	NM_181774	NP_861439			0,1	S36A3_HUMAN	SLC36A3	HGNC	Q495N2	S36A3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)				4	770	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	UPI00001AA154	117			Cytoplasmic (Potential).		SNV	SLC36A3,synonymous_variant,p.=,ENST00000335230,NM_181774.3;SLC36A3,synonymous_variant,p.=,ENST00000377713,NM_001145017.1;SLC36A3,non_coding_transcript_exon_variant,,ENST00000423071,;	uc003ltw.2	c.351C>T	763/2456	1	1			c.351C>T						5	SNP	c.(349-351)TAC>TAT	59	59			ovary(2)|skin(1)	3	Broad	solute carrier family 36, member 3 isoform 2			150672978		0.428	ENSG00000186334	14368	g.chr5:150672978G>A		integral to membrane								56.248225	KEEP	18	8	-1	28	30	18	8	-1	58.464007	28	30	0.308824	1	0	0	0	0	0	0	1	0	--	--		0	A			GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_Silent_p.Y61Y|SLC36A3_uc003ltx.2_Silent_p.Y117Y	232	GBM-32-1982-TP	p.Y117Y	G	TTTCAAGGCCGTACATCGTGG	NM_181774	NP_861439	150672978	Q495N2	S36A3_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	770	-	A	A		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	Silent	117			Cytoplasmic (Potential).			
SLC38A1	0	broad.mit.edu	GRCh37	12	46594890	46594890	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-5204-01	TCGA-28-5204-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398637.5:c.994A>G	p.Thr332Ala	p.T332A	ENST00000398637	NM_030674.3	332	Aca/Gca	0			1			C	T/A	uc001rpa.2	protein_coding	YES	CCDS41774.1			994/1464									ovary(2)|skin(2)|central_nervous_system(1)	5	c.(994-996)ACA>GCA			hmmpanther:PTHR22950:SF184,hmmpanther:PTHR22950,Pfam_domain:PF01490	amino acid transporter system A1				ENSP00000381634		13/17									COSM3398732	13/17	.		ENST00000398637	Transcript			cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	ENSG00000111371	g.chr12:46594890T>C	13447			MODERATE		2.9	medium	getma.org/?cm=msa&ty=f&p=S38A1_HUMAN&rb=69&re=475&var=T332A	NA	getma.org/?cm=var&var=hg19,12,46594890,T,C&fts=all	T332A	--	--	1																																		SLC38A1_uc001rpb.2_Missense_Mutation_p.T332A|SLC38A1_uc001rpc.2_Missense_Mutation_p.T332A|SLC38A1_uc001rpd.2_Missense_Mutation_p.T332A|SLC38A1_uc001rpe.2_Missense_Mutation_p.T332A|SLC38A1_uc010slh.1_Missense_Mutation_p.T305A|SLC38A1_uc009zkj.1_Missense_Mutation_p.T332A	1	1		probably_damaging(0.996)	p.T332A	NM_030674	NP_109599		deleterious(0.02)	1	S38A1_HUMAN	SLC38A1	HGNC	Q9H2H9	S38A1_HUMAN	all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)		Q8NCD8_HUMAN,F8VX12_HUMAN		13	1252	-	Lung SC(27;0.137)|Renal(347;0.236)		UPI000004D33C	332			Helical; (Potential).		SNV	SLC38A1,missense_variant,p.Thr332Ala,ENST00000398637,NM_030674.3,NM_001278389.1,NM_001077484.1;SLC38A1,missense_variant,p.Thr332Ala,ENST00000439706,NM_001278387.1;SLC38A1,missense_variant,p.Thr332Ala,ENST00000549049,NM_001278388.1;SLC38A1,missense_variant,p.Thr332Ala,ENST00000552197,NM_001278390.1;SLC38A1,missense_variant,p.Thr332Ala,ENST00000546893,;SLC38A1,non_coding_transcript_exon_variant,,ENST00000549633,;SLC38A1,upstream_gene_variant,,ENST00000548979,;	uc001rpa.2	c.994A>G	1689/8066	4	4			c.994A>G						12	SNP	c.(994-996)ACA>GCA	35	35			ovary(2)|skin(2)|central_nervous_system(1)	5	Broad	amino acid transporter system A1			46594890		0.294	ENSG00000111371	14374	g.chr12:46594890T>C	cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity							115.133368	KEEP	28	17	-1	36	33	28	17	-1	116.407157	36	33	0.373626	1	0	0	0	0	1	0	0	0	--	--		0	C			SLC38A1_uc001rpb.2_Missense_Mutation_p.T332A|SLC38A1_uc001rpc.2_Missense_Mutation_p.T332A|SLC38A1_uc001rpd.2_Missense_Mutation_p.T332A|SLC38A1_uc001rpe.2_Missense_Mutation_p.T332A|SLC38A1_uc010slh.1_Missense_Mutation_p.T305A|SLC38A1_uc009zkj.1_Missense_Mutation_p.T332A	215	GBM-28-5204-TP	p.T332A	T	CCATAGAATGTCAAGTAGCCA	NM_030674	NP_109599	46594890	Q9H2H9	S38A1_HUMAN	0	all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)		13	1252	-	C	C	Lung SC(27;0.137)|Renal(347;0.236)		Missense_Mutation	332			Helical; (Potential).			
SLC38A10	0	broad.mit.edu	GRCh37	17	79226299	79226302	+	frameshift_variant	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-27-1832-01	TCGA-27-1832-01	TCTT	TCTT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374759.3:c.1638_1641delAAGA	p.Glu548AsnfsTer156	p.E548Nfs*156	ENST00000374759	NM_001037984.1	546	gaAAGA/ga	0			1			-	ER/X	uc002jzz.1	protein_coding	YES	CCDS42397.1			1638-1641/3360									pancreas(1)|skin(1)	2	c.(1636-1641)GAAAGAfs				solute carrier family 38, member 10 isoform a				ENSP00000363891		13/16	1.65E-05		8.66E-05			1.53E-05			rs777968247	13/16	.		ENST00000374759	Transcript			amino acid transport|sodium ion transport	integral to membrane		ENSG00000157637	g.chr17:79226299_79226302delTCTT	28237			HIGH								--	--	1																																		SLC38A10_uc002jzy.1_Frame_Shift_Del_p.E464fs|SLC38A10_uc002kab.2_Frame_Shift_Del_p.E546fs		1			p.E546fs	NM_001037984	NP_001033073				S38AA_HUMAN	SLC38A10	HGNC	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		F5H3T4_HUMAN		13	2013_2016	-	all_neural(118;0.0804)|Melanoma(429;0.242)		UPI000066DA6A	546_547					deletion	SLC38A10,frameshift_variant,p.Glu548AsnfsTer156,ENST00000374759,NM_001037984.1;SLC38A10,frameshift_variant,p.Glu548AsnfsTer?,ENST00000288439,NM_138570.2;SLC38A10,upstream_gene_variant,,ENST00000540966,;SLC38A10,upstream_gene_variant,,ENST00000576151,;SLC38A10,non_coding_transcript_exon_variant,,ENST00000542075,;SLC38A10,non_coding_transcript_exon_variant,,ENST00000573058,;SLC38A10,upstream_gene_variant,,ENST00000539643,;	uc002jzz.1	c.1638_1641delAAGA	2022-2025/4300	5	5			c.1638_1641delAAGA						17	DEL	c.(1636-1641)GAAAGAfs	NaN	0			pancreas(1)|skin(1)	2	Broad	solute carrier family 38, member 10 isoform a			79226302		0.618	ENSG00000157637	14375	g.chr17:79226299_79226302delTCTT	amino acid transport|sodium ion transport	integral to membrane																					0.23	1	1	0	1	0	0	0	0	0	--	--		0	-			SLC38A10_uc002jzy.1_Frame_Shift_Del_p.E464fs|SLC38A10_uc002kab.2_Frame_Shift_Del_p.E546fs	191	GBM-27-1832-TP	p.E546fs	TCTT	CTTGTTTCTCTCTTTCTGAGTCGG	NM_001037984	NP_001033073	79226299	Q9HBR0	S38AA_HUMAN	0	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		13	2013_2016	-	-	-	all_neural(118;0.0804)|Melanoma(429;0.242)		Frame_Shift_Del	546_547						
SLC38A2	54407	broad.mit.edu	GRCh37	12	46757576	46757576	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0645-01	TCGA-06-0645-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256689.5:c.987G>A	p.Lys329=	p.K329=	ENST00000256689	NM_018976.4	329	aaG/aaA	0			1			T	K	uc001rpg.2	protein_coding	YES	CCDS8749.1			987/1521									urinary_tract(1)|skin(1)	2	c.(985-987)AAG>AAA			hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF207,Pfam_domain:PF01490	solute carrier family 38, member 2				ENSP00000256689		16-Dec									COSM3398733	16-Dec	.		ENST00000256689	Transcript			cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	ENSG00000134294	g.chr12:46757576C>T	13448			LOW								--	--	1																																		SLC38A2_uc010sli.1_Silent_p.K167K|SLC38A2_uc001rph.2_Silent_p.K229K	1	1			p.K329K	NM_018976	NP_061849			1	S38A2_HUMAN	SLC38A2	HGNC	Q96QD8	S38A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)			12	1427	-	Lung SC(27;0.192)|Renal(347;0.236)		UPI000000121A	329			Cytoplasmic (Potential).		SNV	SLC38A2,synonymous_variant,p.=,ENST00000256689,NM_018976.4;SLC38A2,synonymous_variant,p.=,ENST00000551374,;SLC38A2,non_coding_transcript_exon_variant,,ENST00000548111,;SLC38A2,downstream_gene_variant,,ENST00000547252,;SLC38A2,downstream_gene_variant,,ENST00000548870,;SLC38A2,3_prime_UTR_variant,,ENST00000549258,;SLC38A2,non_coding_transcript_exon_variant,,ENST00000548236,;SLC38A2,non_coding_transcript_exon_variant,,ENST00000552414,;SLC38A2,upstream_gene_variant,,ENST00000546520,;SLC38A2,upstream_gene_variant,,ENST00000548785,;SLC38A2,upstream_gene_variant,,ENST00000552703,;	uc001rpg.2	c.987G>A	1432/4888	2	2			c.987G>A						12	SNP	c.(985-987)AAG>AAA	24	24			urinary_tract(1)|skin(1)	2	Broad	solute carrier family 38, member 2			46757576		0.343	ENSG00000134294	14377	g.chr12:46757576C>T	cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	Ovarian(9;448 492 8335 28722 40361)			Ovarian(9;448 492 8335 28722 40361)			-3.320459	KEEP	3	1	-1	30	26	3	1	-1	7.351681	30	26	0.057692	1	0	0	0	0	0	0	1	0	--	--		0	T			SLC38A2_uc010sli.1_Silent_p.K167K|SLC38A2_uc001rph.2_Silent_p.K229K	59	GBM-06-0645-TP	p.K329K	C	AAAATGAAATCTTGGACACAT	NM_018976	NP_061849	46757576	Q96QD8	S38A2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)	12	1427	-	T	T	Lung SC(27;0.192)|Renal(347;0.236)		Silent	329			Cytoplasmic (Potential).			
SLC38A4	0	broad.mit.edu	GRCh37	12	47186771	47186771	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-1395-01	TCGA-14-1395-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266579.4:c.84C>T	p.Ile28=	p.I28=	ENST00000266579	NM_018018.4	28	atC/atT	0		A:0	1	A:0		A	I	uc001rpi.2	protein_coding		CCDS8750.1			84/1644									ovary(2)|central_nervous_system(1)|skin(1)	4	c.(82-84)ATC>ATT			hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF222	solute carrier family 38, member 4		A:0.001		ENSP00000266579	A:0	17-Mar	8.24E-06			0.000116					rs200652031,COSM3398736	17-Mar	.		ENST00000266579	Transcript		A:0.0002	cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	ENSG00000139209	g.chr12:47186771G>A	14679			LOW								--	--	1																																		SLC38A4_uc001rpj.2_Silent_p.I28I|SLC38A4_uc009zkl.2_Silent_p.I28I	0,1				p.I28I	NM_018018	NP_060488	A:0		0,1	S38A4_HUMAN	SLC38A4	HGNC	Q969I6	S38A4_HUMAN			F8VRD9_HUMAN,F8VQY9_HUMAN		3	483	-	Lung SC(27;0.192)|Renal(347;0.236)		UPI00000468F8	28			Cytoplasmic (Potential).		SNV	SLC38A4,synonymous_variant,p.=,ENST00000447411,NM_001143824.1;SLC38A4,synonymous_variant,p.=,ENST00000266579,NM_018018.4;SLC38A4,synonymous_variant,p.=,ENST00000547477,;SLC38A4,synonymous_variant,p.=,ENST00000546940,;	uc001rpi.2	c.84C>T	483/2728	2	2			c.84C>T						12	SNP	c.(82-84)ATC>ATT	18	18			ovary(2)|central_nervous_system(1)|skin(1)	4	Broad	solute carrier family 38, member 4			47186771		0.438	ENSG00000139209	14379	g.chr12:47186771G>A	cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity							300.923156	KEEP	54	60	-1	73	59	54	60	-1	301.403716	73	59	0.45045	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC38A4_uc001rpj.2_Silent_p.I28I|SLC38A4_uc009zkl.2_Silent_p.I28I	144	GBM-14-1395-TP	p.I28I	G	TTCCTATCCCGATGTAGCTAT	NM_018018	NP_060488	47186771	Q969I6	S38A4_HUMAN	0			3	483	-	A	A	Lung SC(27;0.192)|Renal(347;0.236)		Silent	28			Cytoplasmic (Potential).			
SLC38A4	0	broad.mit.edu	GRCh37	12	47163207	47163207	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-2575-01	TCGA-41-2575-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266579.4:c.1304G>A	p.Arg435His	p.R435H	ENST00000266579	NM_018018.4	435	cGt/cAt	0			1			T	R/H	uc001rpi.2	protein_coding		CCDS8750.1			1304/1644									ovary(2)|central_nervous_system(1)|skin(1)	4	c.(1303-1305)CGT>CAT			Pfam_domain:PF01490,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF222	solute carrier family 38, member 4				ENSP00000266579		15/17	8.24E-06		8.74E-05						rs750931344,COSM3398735	15/17	.		ENST00000266579	Transcript			cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	ENSG00000139209	g.chr12:47163207C>T	14679			MODERATE		3.42	medium	getma.org/?cm=msa&ty=f&p=S38A4_HUMAN&rb=303&re=535&var=R435H	NA	getma.org/?cm=var&var=hg19,12,47163207,C,T&fts=all	R435H	--	--	1																																		SLC38A4_uc001rpj.2_Missense_Mutation_p.R435H	0,1			probably_damaging(0.998)	p.R435H	NM_018018	NP_060488		deleterious(0.02)	0,1	S38A4_HUMAN	SLC38A4	HGNC	Q969I6	S38A4_HUMAN			F8VRD9_HUMAN,F8VQY9_HUMAN		15	1703	-	Lung SC(27;0.192)|Renal(347;0.236)		UPI00000468F8	435			Cytoplasmic (Potential).		SNV	SLC38A4,missense_variant,p.Arg435His,ENST00000447411,NM_001143824.1;SLC38A4,missense_variant,p.Arg435His,ENST00000266579,NM_018018.4;SLC38A4,upstream_gene_variant,,ENST00000550670,;	uc001rpi.2	c.1304G>A	1703/2728	2	2			c.1304G>A						12	SNP	c.(1303-1305)CGT>CAT	20	20			ovary(2)|central_nervous_system(1)|skin(1)	4	Broad	solute carrier family 38, member 4			47163207		0.353	ENSG00000139209	14379	g.chr12:47163207C>T	cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity							212.380046	KEEP	38	37	-1	55	50	38	37	-1	213.046914	55	50	0.43038	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC38A4_uc001rpj.2_Missense_Mutation_p.R435H	253	GBM-41-2575-TP	p.R435H	C	CACTGATGTACGAATCTTAAA	NM_018018	NP_060488	47163207	Q969I6	S38A4_HUMAN	0			15	1703	-	T	T	Lung SC(27;0.192)|Renal(347;0.236)		Missense_Mutation	435			Cytoplasmic (Potential).			
SLC38A4	0	broad.mit.edu	GRCh37	12	47163175	47163175	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266579.4:c.1336C>T	p.Arg446Ter	p.R446*	ENST00000266579	NM_018018.4	446	Cga/Tga	0			1			A	R/*	uc001rpi.2	protein_coding		CCDS8750.1			1336/1644									ovary(2)|central_nervous_system(1)|skin(1)	4	c.(1336-1338)CGA>TGA			Pfam_domain:PF01490,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF222	solute carrier family 38, member 4				ENSP00000266579		15/17									COSM1476570	15/17	.		ENST00000266579	Transcript			cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	ENSG00000139209	g.chr12:47163175G>A	14679			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,12,47163175,G,A&fts=all	R446*	--	--	1																																		SLC38A4_uc001rpj.2_Nonsense_Mutation_p.R446*	1				p.R446*	NM_018018	NP_060488			1	S38A4_HUMAN	SLC38A4	HGNC	Q969I6	S38A4_HUMAN			F8VRD9_HUMAN,F8VQY9_HUMAN		15	1735	-	Lung SC(27;0.192)|Renal(347;0.236)		UPI00000468F8	446			Cytoplasmic (Potential).		SNV	SLC38A4,stop_gained,p.Arg446Ter,ENST00000447411,NM_001143824.1;SLC38A4,stop_gained,p.Arg446Ter,ENST00000266579,NM_018018.4;SLC38A4,upstream_gene_variant,,ENST00000550670,;	uc001rpi.2	c.1336C>T	1735/2728	5	2			c.1336C>T						12	SNP	c.(1336-1338)CGA>TGA	20	20			ovary(2)|central_nervous_system(1)|skin(1)	4	Broad	solute carrier family 38, member 4			47163175		0.363	ENSG00000139209	14379	g.chr12:47163175G>A	cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity							288.784916	KEEP	50	59	-1	86	66	50	59	-1	290.101151	86	66	0.418502	1	0	0	0	0	0	1	0	0	--	--		0	A			SLC38A4_uc001rpj.2_Nonsense_Mutation_p.R446*	271	GBM-76-4932-TP	p.R446*	G	CTGAAGGGTCGTTTGGGAAAT	NM_018018	NP_060488	47163175	Q969I6	S38A4_HUMAN	0			15	1735	-	A	A	Lung SC(27;0.192)|Renal(347;0.236)		Nonsense_Mutation	446			Cytoplasmic (Potential).			
SLC38A5	92745	broad.mit.edu	GRCh37	X	48317931	48317931	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0237-01	TCGA-06-0237-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376876.3:c.1308C>T	p.Pro436=	p.P436=	ENST00000376876		436	ccC/ccT	0			1			A	P	uc010nid.2	protein_coding	YES	CCDS14293.1			1308/1419									ovary(3)	3	c.(1306-1308)CCC>CCT			Pfam_domain:PF01490,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF74	solute carrier family 38, member 5				ENSP00000366073		15/16									COSM2151058,COSM2151057	15/16	.		ENST00000376876	Transcript			cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		ENSG00000017483	g.chrX:48317931G>A	18070			LOW								--	--	1																																		SLC38A5_uc004djk.3_Silent_p.P385P	1,1	1			p.P436P	NM_033518	NP_277053			1,1	S38A5_HUMAN	SLC38A5	HGNC	Q8WUX1	S38A5_HUMAN			C9JWG4_HUMAN,C9JNK4_HUMAN,C9JMY2_HUMAN,C9JJU1_HUMAN,C9JHH7_HUMAN		16	1486	-			UPI000004F5E1	436			Cytoplasmic (Potential).		SNV	SLC38A5,synonymous_variant,p.=,ENST00000376876,;SLC38A5,synonymous_variant,p.=,ENST00000376875,;SLC38A5,synonymous_variant,p.=,ENST00000317669,NM_033518.2;SLC38A5,downstream_gene_variant,,ENST00000440085,;SLC38A5,downstream_gene_variant,,ENST00000441948,;SLC38A5,downstream_gene_variant,,ENST00000413668,;SLC38A5,downstream_gene_variant,,ENST00000416711,;SLC38A5,non_coding_transcript_exon_variant,,ENST00000480105,;SLC38A5,non_coding_transcript_exon_variant,,ENST00000462359,;SLC38A5,intron_variant,,ENST00000497336,;SLC38A5,downstream_gene_variant,,ENST00000494034,;	uc010nid.2	c.1308C>T	2152/2662	2	2			c.1308C>T						23	SNP	c.(1306-1308)CCC>CCT	39	39			ovary(3)	3	Broad	solute carrier family 38, member 5			48317931		0.582	ENSG00000017483	14380	g.chrX:48317931G>A	cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane								27.872053	KEEP	8	2	-1	6	5	8	2	-1	27.915701	6	5	0.45	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC38A5_uc004djk.3_Silent_p.P385P	54	GBM-06-0237-TP	p.P436P	G	CCTGGATCTTGGGCCAGGATA	NM_033518	NP_277053	48317931	Q8WUX1	S38A5_HUMAN	0			16	1486	-	A	A			Silent	436			Cytoplasmic (Potential).			
SLC38A5	92745	broad.mit.edu	GRCh37	X	48319395	48319395	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0876-01	TCGA-06-0876-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376876.3:c.929C>A	p.Thr310Asn	p.T310N	ENST00000376876		310	aCc/aAc	0			1			T	T/N	uc010nid.2	protein_coding	YES	CCDS14293.1			929/1419									ovary(3)	3	c.(928-930)ACC>AAC			Pfam_domain:PF01490,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF74,Transmembrane_helices:TMhelix	solute carrier family 38, member 5				ENSP00000366073		16-Dec									COSM2152124,COSM2152123	16-Dec	.		ENST00000376876	Transcript			cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		ENSG00000017483	g.chrX:48319395G>T	18070			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=S38A5_HUMAN&rb=46&re=460&var=T310N	NA	getma.org/?cm=var&var=hg19,X,48319395,G,T&fts=all	T310N	--	--	1																																		SLC38A5_uc004djk.3_Missense_Mutation_p.T259N	1,1	1		possibly_damaging(0.821)	p.T310N	NM_033518	NP_277053		deleterious(0)	1,1	S38A5_HUMAN	SLC38A5	HGNC	Q8WUX1	S38A5_HUMAN			C9JWG4_HUMAN,C9JNK4_HUMAN,C9JMY2_HUMAN,C9JJU1_HUMAN,C9JHH7_HUMAN		13	1107	-			UPI000004F5E1	310			Helical; (Potential).		SNV	SLC38A5,missense_variant,p.Thr310Asn,ENST00000376876,;SLC38A5,missense_variant,p.Thr259Asn,ENST00000376875,;SLC38A5,missense_variant,p.Thr310Asn,ENST00000317669,NM_033518.2;SLC38A5,downstream_gene_variant,,ENST00000440085,;SLC38A5,downstream_gene_variant,,ENST00000441948,;SLC38A5,downstream_gene_variant,,ENST00000413668,;SLC38A5,downstream_gene_variant,,ENST00000416711,;SLC38A5,non_coding_transcript_exon_variant,,ENST00000494034,;SLC38A5,intron_variant,,ENST00000497336,;SLC38A5,upstream_gene_variant,,ENST00000480105,;SLC38A5,upstream_gene_variant,,ENST00000462359,;	uc010nid.2	c.929C>A	1773/2662	2	2			c.929C>A						23	SNP	c.(928-930)ACC>AAC	29	29			ovary(3)	3	Broad	solute carrier family 38, member 5			48319395		0.522	ENSG00000017483	14380	g.chrX:48319395G>T	cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane								17.983415	KEEP	5	4	0.555555556	16	14	5	4	0.555555556	20.537187	16	14	0.222222	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC38A5_uc004djk.3_Missense_Mutation_p.T259N	72	GBM-06-0876-TP	p.T310N	G	GTATCCAAAGGTTGCTGTGAG	NM_033518	NP_277053	48319395	Q8WUX1	S38A5_HUMAN	0			13	1107	-	T	T			Missense_Mutation	310			Helical; (Potential).			
SLC38A6	145389		GRCh37	14	61518523	61518525	+	inframe_deletion	In_Frame_Del	DEL	ATG	ATG	-			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000354886.2:c.1072_1074del	p.Met358del	p.M358del	ENST00000354886	NM_001172702.1	357	ATG/-	0																																																																																																																																																																																																																																												
SLC38A8	0	broad.mit.edu	GRCh37	16	84066963	84066963	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01	TCGA-27-1830-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299709.3:c.500C>T	p.Pro167Leu	p.P167L	ENST00000299709	NM_001080442.1	167	cCg/cTg	0	A:0	A:0	1	A:0		A	P/L	uc002fhg.1	protein_coding	YES	CCDS32495.1			500/1308										0	c.(499-501)CCG>CTG			Pfam_domain:PF01490,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF226	solute carrier family 38, member 8		A:0.001	A:0.0001	ENSP00000299709	A:0	10-Mar	4.12E-05			0.000231		4.53E-05			rs200233980,COSM3402521	10-Mar	.		ENST00000299709	Transcript	1	A:0.0002	amino acid transport|sodium ion transport	integral to membrane		ENSG00000166558	g.chr16:84066963G>A	32434			MODERATE		1.555	low	getma.org/?cm=msa&ty=f&p=S38A8_HUMAN&rb=22&re=431&var=P167L	NA	getma.org/?cm=var&var=hg19,16,84066963,G,A&fts=all	P167L	--	--	1																																			0,1	1		benign(0.365)	p.P167L	NM_001080442	NP_001073911	A:0	deleterious(0.03)	0,1	S38A8_HUMAN	SLC38A8	HGNC	A6NNN8	S38A8_HUMAN			H3BUP5_HUMAN,H3BP02_HUMAN		3	500	-			UPI0000D61A1F	167			Helical; (Potential).		SNV	SLC38A8,missense_variant,p.Pro167Leu,ENST00000299709,NM_001080442.1;SLC38A8,missense_variant,p.Pro167Leu,ENST00000568178,;SLC38A8,downstream_gene_variant,,ENST00000569816,;	uc002fhg.1	c.500C>T	500/1308	1	1			c.500C>T						16	SNP	c.(499-501)CCG>CTG	54	54				0	Broad	solute carrier family 38, member 8			84066963		0.652	ENSG00000166558	14383	g.chr16:84066963G>A	amino acid transport|sodium ion transport	integral to membrane								-35.176978	KEEP	8	10	-1	154	189	8	10	-1	36.162506	154	189	0.050898	1	0	0	0	0	1	0	0	0	--	--		0	A				189	GBM-27-1830-TP	p.P167L	G	GATCTCCCGCGGGGCAGACAG	NM_001080442	NP_001073911	84066963	A6NNN8	S38A8_HUMAN	0			3	500	-	A	A			Missense_Mutation	167			Helical; (Potential).			
SLC39A1	0	broad.mit.edu	GRCh37	1	153933124	153933124	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-27-1832-01	TCGA-27-1832-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310483.6:c.425T>C	p.Leu142Pro	p.L142P	ENST00000310483	NM_014437.4	142	cTg/cCg	0			1			G	L/P	uc001fdh.2	protein_coding		CCDS1055.1			425/975										0	c.(424-426)CTG>CCG			hmmpanther:PTHR11040,hmmpanther:PTHR11040:SF30,Pfam_domain:PF02535	solute carrier family 39 (zinc transporter),				ENSP00000309710		5-May									COSM3399773	5-May	.		ENST00000310483	Transcript				endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity	ENSG00000143570	g.chr1:153933124A>G	12876			MODERATE		-0.55	neutral	getma.org/?cm=msa&ty=f&p=S39A1_HUMAN&rb=27&re=320&var=L142P	NA	getma.org/?cm=var&var=hg19,1,153933124,A,G&fts=all	L142P	--	--	1																																		CRTC2_uc010ped.1_5'Flank|SLC39A1_uc001fdi.2_Missense_Mutation_p.L142P|SLC39A1_uc001fdj.2_Missense_Mutation_p.L142P|SLC39A1_uc001fdk.2_Missense_Mutation_p.L142P|SLC39A1_uc010pee.1_Missense_Mutation_p.L40P|SLC39A1_uc001fdl.2_Missense_Mutation_p.L142P	1			benign(0.004)	p.L142P	NM_014437	NP_055252		tolerated(0.28)	1	S39A1_HUMAN	SLC39A1	HGNC	Q9NY26	S39A1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)	Q5T4K4_HUMAN,Q5T4K3_HUMAN,Q5T4K2_HUMAN,B4DNN0_HUMAN		4	594	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		UPI000006DDFE	142			Cytoplasmic (Potential).		SNV	SLC39A1,missense_variant,p.Leu142Pro,ENST00000368623,;SLC39A1,missense_variant,p.Leu142Pro,ENST00000310483,NM_014437.4,NM_001271960.1;SLC39A1,missense_variant,p.Leu142Pro,ENST00000368621,NM_001271959.1,NM_001271957.1;SLC39A1,missense_variant,p.Leu142Pro,ENST00000356205,NM_001271958.1;SLC39A1,missense_variant,p.Leu40Pro,ENST00000537590,;SLC39A1,missense_variant,p.Leu142Pro,ENST00000429040,;SLC39A1,missense_variant,p.Leu142Pro,ENST00000413622,;SLC39A1,missense_variant,p.Leu142Pro,ENST00000417348,;CRTC2,upstream_gene_variant,,ENST00000368633,NM_181715.2;CRTC2,upstream_gene_variant,,ENST00000368630,;SLC39A1,downstream_gene_variant,,ENST00000461071,;CRTC2,upstream_gene_variant,,ENST00000476883,;CRTC2,upstream_gene_variant,,ENST00000492073,;CRTC2,upstream_gene_variant,,ENST00000303569,;CRTC2,upstream_gene_variant,,ENST00000487235,;	uc001fdh.2	c.425T>C	891/2427	3	3			c.425T>C						1	SNP	c.(424-426)CTG>CCG	15	15				0	Broad	solute carrier family 39 (zinc transporter),			153933124		0.607	ENSG00000143570	14385	g.chr1:153933124A>G		endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity							-30.702122	KEEP	1	2	-1	72	81	1	2	-1	6.592708	72	81	0.02069	1	0	0	0	0	1	0	0	0	--	--		0	G			CRTC2_uc010ped.1_5'Flank|SLC39A1_uc001fdi.2_Missense_Mutation_p.L142P|SLC39A1_uc001fdj.2_Missense_Mutation_p.L142P|SLC39A1_uc001fdk.2_Missense_Mutation_p.L142P|SLC39A1_uc010pee.1_Missense_Mutation_p.L40P|SLC39A1_uc001fdl.2_Missense_Mutation_p.L142P	191	GBM-27-1832-TP	p.L142P	A	TGTTTCCTCCAGAGGTGACGG	NM_014437	NP_055252	153933124	Q9NY26	S39A1_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)	4	594	-	G	G	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		Missense_Mutation	142			Cytoplasmic (Potential).			
SLC39A12	221074	broad.mit.edu	GRCh37	10	18270258	18270258	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0648-01	TCGA-06-0648-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377369.2:c.942G>A	p.Arg314=	p.R314=	ENST00000377369	NM_001145195.1	314	agG/agA	0			1			A	R	uc001ipo.2	protein_coding	YES	CCDS44362.1			942/2076									ovary(1)|breast(1)	2	c.(940-942)AGG>AGA			hmmpanther:PTHR12191,hmmpanther:PTHR12191:SF4	solute carrier family 39 (zinc transporter),				ENSP00000366586		13-Jun									COSM2151392,COSM2151391	13-Jun	.		ENST00000377369	Transcript			zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	ENSG00000148482	g.chr10:18270258G>A	20860			LOW								--	--	1																																		SLC39A12_uc001ipn.2_Silent_p.R314R|SLC39A12_uc001ipp.2_Silent_p.R314R|SLC39A12_uc010qck.1_Silent_p.R180R	1,1	1			p.R314R	NM_001145195	NP_001138667			1,1	S39AC_HUMAN	SLC39A12	HGNC	Q504Y0	S39AC_HUMAN			F5GX72_HUMAN		6	1215	+			UPI00004044FC	314			Cytoplasmic (Potential).		SNV	SLC39A12,synonymous_variant,p.=,ENST00000377369,NM_001145195.1;SLC39A12,synonymous_variant,p.=,ENST00000377371,NM_001282733.1;SLC39A12,synonymous_variant,p.=,ENST00000377374,NM_152725.3;SLC39A12,synonymous_variant,p.=,ENST00000539911,NM_001282734.1;	uc001ipo.2	c.942G>A	1215/2808	2	2			c.942G>A						10	SNP	c.(940-942)AGG>AGA	33	33			ovary(1)|breast(1)	2	Broad	solute carrier family 39 (zinc transporter),			18270258		0.448	ENSG00000148482	14388	g.chr10:18270258G>A	zinc ion transport	integral to membrane	metal ion transmembrane transporter activity							202.166598	KEEP	39	30	-1	12	4	39	30	-1	209.071593	12	4	0.819444	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC39A12_uc001ipn.2_Silent_p.R314R|SLC39A12_uc001ipp.2_Silent_p.R314R|SLC39A12_uc010qck.1_Silent_p.R180R	61	GBM-06-0648-TP	p.R314R	G	TCTCTGCTAGGCAGCTGGTGG	NM_001145195	NP_001138667	18270258	Q504Y0	S39AC_HUMAN	0			6	1215	+	A	A			Silent	314			Cytoplasmic (Potential).			
SLC39A12	0	broad.mit.edu	GRCh37	10	18276538	18276538	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4934-01	TCGA-76-4934-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377369.2:c.1227C>T	p.Val409=	p.V409=	ENST00000377369	NM_001145195.1	409	gtC/gtT	0		T:0	1	T:0		T	V	uc001ipo.2	protein_coding	YES	CCDS44362.1			1227/2076									ovary(1)|breast(1)	2	c.(1225-1227)GTC>GTT			Pfam_domain:PF02535,hmmpanther:PTHR12191,hmmpanther:PTHR12191:SF4,Transmembrane_helices:TMhelix	solute carrier family 39 (zinc transporter),		T:0.001		ENSP00000366586	T:0	13-Jul	8.24E-06			0.000116					rs201107118,COSM3397031,COSM3397030	13-Jul	.		ENST00000377369	Transcript		T:0.0002	zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	ENSG00000148482	g.chr10:18276538C>T	20860			LOW								--	--	1																																		SLC39A12_uc001ipn.2_Silent_p.V409V|SLC39A12_uc001ipp.2_Silent_p.V409V|SLC39A12_uc010qck.1_Silent_p.V275V	0,1,1	1			p.V409V	NM_001145195	NP_001138667	T:0		0,1,1	S39AC_HUMAN	SLC39A12	HGNC	Q504Y0	S39AC_HUMAN			F5GX72_HUMAN		7	1500	+			UPI00004044FC	409			Helical; (Potential).		SNV	SLC39A12,synonymous_variant,p.=,ENST00000377369,NM_001145195.1;SLC39A12,synonymous_variant,p.=,ENST00000377371,NM_001282733.1;SLC39A12,synonymous_variant,p.=,ENST00000377374,NM_152725.3;SLC39A12,synonymous_variant,p.=,ENST00000539911,NM_001282734.1;	uc001ipo.2	c.1227C>T	1500/2808	2	2			c.1227C>T						10	SNP	c.(1225-1227)GTC>GTT	22	22			ovary(1)|breast(1)	2	Broad	solute carrier family 39 (zinc transporter),			18276538		0.502	ENSG00000148482	14388	g.chr10:18276538C>T	zinc ion transport	integral to membrane	metal ion transmembrane transporter activity							404.522645	KEEP	70	76	-1	29	27	70	76	-1	411.766115	29	27	0.717647	1	0	0	0	0	0	0	1	0	--	--		0	T			SLC39A12_uc001ipn.2_Silent_p.V409V|SLC39A12_uc001ipp.2_Silent_p.V409V|SLC39A12_uc010qck.1_Silent_p.V275V	272	GBM-76-4934-TP	p.V409V	C	GCTTGGCCGTCGGGACACTGT	NM_001145195	NP_001138667	18276538	Q504Y0	S39AC_HUMAN	0			7	1500	+	T	T			Silent	409			Helical; (Potential).			
SLC39A2	29986		GRCh37	14	21469493	21469493	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000298681.4:c.685C>T	p.Leu229=	p.L229=	ENST00000298681	NM_014579.3	229	Cta/Tta	0																																																																																																																																																																																																																																												
SLC39A3	0	broad.mit.edu	GRCh37	19	2733097	2733097	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-2521-01	TCGA-27-2521-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269740.4:c.597C>T	p.Ser199=	p.S199=	ENST00000269740	NM_144564.4	199	agC/agT	0			1			A	S	uc002lwg.2	protein_coding	YES	CCDS12093.1			597/945										0	c.(595-597)AGC>AGT			Pfam_domain:PF02535,hmmpanther:PTHR11040,hmmpanther:PTHR11040:SF45,Transmembrane_helices:TMhelix	solute carrier family 39 (zinc transporter),				ENSP00000269740		3-Mar									COSM3404067	3-Mar	.		ENST00000269740	Transcript				integral to membrane|plasma membrane	zinc ion transmembrane transporter activity	ENSG00000141873	g.chr19:2733097G>A	17128			LOW								--	--	1																																		SLC39A3_uc010xgy.1_Silent_p.S199S	1	1			p.S199S	NM_144564	NP_653165			1	S39A3_HUMAN	SLC39A3	HGNC	Q9BRY0	S39A3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	K7ENJ1_HUMAN,K7EJZ1_HUMAN		3	851	-		Hepatocellular(1079;0.137)	UPI00001B216E	199			Helical; (Potential).		SNV	SLC39A3,synonymous_variant,p.=,ENST00000269740,NM_144564.4;SLC39A3,synonymous_variant,p.=,ENST00000545664,;AC006538.4,intron_variant,,ENST00000586572,;SLC39A3,downstream_gene_variant,,ENST00000455372,NM_213568.1;SLC39A3,downstream_gene_variant,,ENST00000589363,;SLC39A3,downstream_gene_variant,,ENST00000589166,;AC006538.1,upstream_gene_variant,,ENST00000567905,;SLC39A3,downstream_gene_variant,,ENST00000590875,;	uc002lwg.2	c.597C>T	927/1502	2	2			c.597C>T						19	SNP	c.(595-597)AGC>AGT	44	44				0	Broad	solute carrier family 39 (zinc transporter),			2733097		0.716	ENSG00000141873	14392	g.chr19:2733097G>A		integral to membrane|plasma membrane	zinc ion transmembrane transporter activity							10.864326	KEEP	4	9	-1	29	55	4	9	-1	22.283727	29	55	0.121951	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC39A3_uc010xgy.1_Silent_p.S199S	200	GBM-27-2521-TP	p.S199S	G	CCACGAACAGGCTCACCACTT	NM_144564	NP_653165	2733097	Q9BRY0	S39A3_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	851	-	A	A		Hepatocellular(1079;0.137)	Silent	199			Helical; (Potential).			
SLC39A3	29985		GRCh37	19	2733313	2733313	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000269740.4:c.381G>A	p.Val127=	p.V127=	ENST00000269740	NM_144564.4	127	gtG/gtA	0																																																																																																																																																																																																																																												
SLC39A4	0	broad.mit.edu	GRCh37	8	145642115	145642115	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2523-01	TCGA-27-2523-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301305.3:c.59C>T	p.Ala20Val	p.A20V	ENST00000301305	NM_130849.3	20	gCg/gTg	0			1			A	A/V	uc003zcq.2	protein_coding	YES	CCDS6424.1			59/1944										0	c.(58-60)GCG>GTG			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR12191:SF11,hmmpanther:PTHR12191	solute carrier family 39 (zinc transporter),				ENSP00000301305		12-Jan	8.27E-06							6.40E-05	rs782236196,COSM3412860	12-Jan	.		ENST00000301305	Transcript	1			cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity	ENSG00000147804	g.chr8:145642115G>A	17129			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=S39A4_HUMAN&rb=1&re=200&var=A20V	NA	getma.org/?cm=var&var=hg19,8,145642115,G,A&fts=all	A20V	--	--	1																																		SLC39A4_uc003zco.2_5'Flank|SLC39A4_uc003zcp.2_5'Flank	0,1	1		unknown(0)	p.A20V	NM_130849	NP_570901		tolerated(0.45)	0,1	S39A4_HUMAN	SLC39A4	HGNC	Q6P5W5	S39A4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)		Q9NX22_HUMAN		1	159	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		UPI00001AED01	20					SNV	SLC39A4,missense_variant,p.Ala20Val,ENST00000301305,NM_130849.3;SLC39A4,missense_variant,p.Ala20Val,ENST00000526658,;SLC39A4,upstream_gene_variant,,ENST00000276833,NM_017767.2,NM_001280557.1;SLC39A4,upstream_gene_variant,,ENST00000531013,;SLC39A4,upstream_gene_variant,,ENST00000527148,;SLC39A4,upstream_gene_variant,,ENST00000532718,;SLC39A4,upstream_gene_variant,,ENST00000530807,;SLC39A4,upstream_gene_variant,,ENST00000531789,;SLC39A4,upstream_gene_variant,,ENST00000529462,;	uc003zcq.2	c.59C>T	165/2174	2	2			c.59C>T						8	SNP	c.(58-60)GCG>GTG	34	34				0	Broad	solute carrier family 39 (zinc transporter),			145642115		0.662	ENSG00000147804	14393	g.chr8:145642115G>A		cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity							20.224072	KEEP	5	3	-1	6	3	5	3	-1	20.238497	6	3	0.466667	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC39A4_uc003zco.2_5'Flank|SLC39A4_uc003zcp.2_5'Flank	201	GBM-27-2523-TP	p.A20V	G	GGACGCCGTCGCCGTCACCAC	NM_130849	NP_570901	145642115	Q6P5W5	S39A4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)		1	159	-	A	A	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	20						
SLC39A8	0	broad.mit.edu	GRCh37	4	103184237	103184237	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0813-01	TCGA-14-0813-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356736.4:c.1347C>T	p.Leu449=	p.L449=	ENST00000356736	NM_001135146.1	449	ctC/ctT	0			1			A	L	uc003hwb.1	protein_coding		CCDS3656.1			1347/1383										0	c.(1345-1347)CTC>CTT			Pfam_domain:PF02535,hmmpanther:PTHR12191,hmmpanther:PTHR12191:SF2,Transmembrane_helices:TMhelix	solute carrier family 39 (zinc transporter),				ENSP00000349174		9-Sep									COSM2154713	9-Sep	.		ENST00000356736	Transcript				integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity	ENSG00000138821	g.chr4:103184237G>A	20862			LOW								--	--	1																																		SLC39A8_uc011ceo.1_Intron|SLC39A8_uc003hwa.1_Silent_p.L382L|SLC39A8_uc003hwc.2_Silent_p.L449L	1				p.L449L	NM_022154	NP_071437			1	S39A8_HUMAN	SLC39A8	HGNC	Q9C0K1	S39A8_HUMAN		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)			8	1876	-		Hepatocellular(203;0.217)	UPI0000046C4E	449			Helical; (Potential).		SNV	SLC39A8,synonymous_variant,p.=,ENST00000394833,NM_022154.5,NM_001135148.1;SLC39A8,synonymous_variant,p.=,ENST00000356736,NM_001135146.1,NM_001135148.1;SLC39A8,intron_variant,,ENST00000424970,NM_001135147.1;	uc003hwb.1	c.1347C>T	1730/3144	1	1			c.1347C>T						4	SNP	c.(1345-1347)CTC>CTT	60	60				0	Broad	solute carrier family 39 (zinc transporter),			103184237		0.348	ENSG00000138821	14397	g.chr4:103184237G>A		integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity							80.833407	KEEP	24	15	-1	80	58	24	15	-1	91.923862	80	58	0.22293	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC39A8_uc011ceo.1_Intron|SLC39A8_uc003hwa.1_Silent_p.L382L|SLC39A8_uc003hwc.2_Silent_p.L449L	138	GBM-14-0813-TP	p.L449L	G	ACAAGGTAATGAGTAGAATGG	NM_022154	NP_071437	103184237	Q9C0K1	S39A8_HUMAN	0		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)	8	1876	-	A	A		Hepatocellular(203;0.217)	Silent	449			Helical; (Potential).			
SLC3A1	6519	broad.mit.edu	GRCh37	2	44528234	44528234	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0128-01	TCGA-06-0128-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260649.6:c.1104G>C	p.Met368Ile	p.M368I	ENST00000260649	NM_000341.3	368	atG/atC	0			1			C	M/I	uc002ruc.3	protein_coding	YES	CCDS1819.1			1104/2058										0	c.(1102-1104)ATG>ATC			Gene3D:3.20.20.80,Pfam_domain:PF00128,hmmpanther:PTHR10357,hmmpanther:PTHR10357:SF73,SMART_domains:SM00642,Superfamily_domains:SSF51445	solute carrier family 3, member 1	L-Cystine(DB00138)			ENSP00000260649		10-Jun									COSM3407871	10-Jun	.		ENST00000260649	Transcript	1		carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	ENSG00000138079	g.chr2:44528234G>C	11025			MODERATE		0.375	neutral	getma.org/?cm=msa&ty=f&p=SLC31_HUMAN&rb=140&re=490&var=M368I	getma.org/pdb.php?prot=SLC31_HUMAN&from=140&to=490&var=M368I	getma.org/?cm=var&var=hg19,2,44528234,G,C&fts=all	M368I	--	--	1																																		SLC3A1_uc002rty.2_Missense_Mutation_p.M368I|SLC3A1_uc002rtz.2_Missense_Mutation_p.M368I|SLC3A1_uc002rua.2_Missense_Mutation_p.M368I|SLC3A1_uc002rub.2_Missense_Mutation_p.M368I|SLC3A1_uc002rud.3_Missense_Mutation_p.M90I|SLC3A1_uc002rue.3_5'Flank	1	1		benign(0.192)	p.M368I	NM_000341	NP_000332		tolerated(0.11)	1	SLC31_HUMAN	SLC3A1	HGNC	Q07837	SLC31_HUMAN			E7ENC4_HUMAN		6	1182	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	UPI000013D0F2	368			Extracellular (Potential).		SNV	SLC3A1,missense_variant,p.Met368Ile,ENST00000260649,NM_000341.3;SLC3A1,missense_variant,p.Met368Ile,ENST00000409229,;SLC3A1,missense_variant,p.Met90Ile,ENST00000409380,;SLC3A1,missense_variant,p.Met368Ile,ENST00000409387,;SLC3A1,missense_variant,p.Met368Ile,ENST00000409741,;SLC3A1,missense_variant,p.Met368Ile,ENST00000410056,;SLC3A1,intron_variant,,ENST00000409294,;SLC3A1,upstream_gene_variant,,ENST00000409740,;SLC3A1,downstream_gene_variant,,ENST00000427285,;	uc002ruc.3	c.1104G>C	1180/2989	3	3			c.1104G>C						2	SNP	c.(1102-1104)ATG>ATC	5	5				0	Broad	solute carrier family 3, member 1		L-Cystine(DB00138)	44528234		0.532	ENSG00000138079	14399	g.chr2:44528234G>C	carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity							9.308892	KEEP	4	5	-1	39	47	4	5	-1	22.177043	39	47	0.107143	1	0	0	0	0	1	0	0	0	--	--		0	C			SLC3A1_uc002rty.2_Missense_Mutation_p.M368I|SLC3A1_uc002rtz.2_Missense_Mutation_p.M368I|SLC3A1_uc002rua.2_Missense_Mutation_p.M368I|SLC3A1_uc002rub.2_Missense_Mutation_p.M368I|SLC3A1_uc002rud.3_Missense_Mutation_p.M90I|SLC3A1_uc002rue.3_5'Flank	14	GBM-06-0128-TP	p.M368I	G	GGCAGACCATGGACCAATACA	NM_000341	NP_000332	44528234	Q07837	SLC31_HUMAN	0			6	1182	+	C	C		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Missense_Mutation	368			Extracellular (Potential).			
SLC3A1	6519	broad.mit.edu	GRCh37	2	44527119	44527119	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01	TCGA-06-0158-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260649.6:c.901C>T	p.Arg301Trp	p.R301W	ENST00000260649	NM_000341.3	301	Cgg/Tgg	0	T:0.0005	T:0	1	T:0		T	R/W	uc002ruc.3	protein_coding	YES	CCDS1819.1			901/2058										0	c.(901-903)CGG>TGG			Gene3D:3.20.20.80,Pfam_domain:PF00128,hmmpanther:PTHR10357,hmmpanther:PTHR10357:SF73,SMART_domains:SM00642,Superfamily_domains:SSF51445	solute carrier family 3, member 1	L-Cystine(DB00138)	T:0	T:0.0001	ENSP00000260649	T:0	10-May	7.41E-05	0.000192	0.000259			4.50E-05		6.06E-05	rs200001296,COSM1226351	10-May	.		ENST00000260649	Transcript	1	T:0.0002	carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	ENSG00000138079	g.chr2:44527119C>T	11025			MODERATE		3.28	medium	getma.org/?cm=msa&ty=f&p=SLC31_HUMAN&rb=140&re=490&var=R301W	getma.org/pdb.php?prot=SLC31_HUMAN&from=140&to=490&var=R301W	getma.org/?cm=var&var=hg19,2,44527119,C,T&fts=all	R301W	--	--	1																																		SLC3A1_uc002rty.2_Missense_Mutation_p.R301W|SLC3A1_uc002rtz.2_Missense_Mutation_p.R301W|SLC3A1_uc002rua.2_Missense_Mutation_p.R301W|SLC3A1_uc002rub.2_Missense_Mutation_p.R301W|SLC3A1_uc002rud.3_Missense_Mutation_p.R23W	0,1	1		possibly_damaging(0.846)	p.R301W	NM_000341	NP_000332	T:0.001	deleterious(0)	0,1	SLC31_HUMAN	SLC3A1	HGNC	Q07837	SLC31_HUMAN			E7ENC4_HUMAN		5	979	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	UPI000013D0F2	301			Extracellular (Potential).		SNV	SLC3A1,missense_variant,p.Arg301Trp,ENST00000260649,NM_000341.3;SLC3A1,missense_variant,p.Arg301Trp,ENST00000409229,;SLC3A1,missense_variant,p.Arg23Trp,ENST00000409380,;SLC3A1,missense_variant,p.Arg301Trp,ENST00000409387,;SLC3A1,missense_variant,p.Arg301Trp,ENST00000409741,;SLC3A1,missense_variant,p.Arg301Trp,ENST00000410056,;SLC3A1,missense_variant,p.Arg79Trp,ENST00000427285,;SLC3A1,upstream_gene_variant,,ENST00000409740,;SLC3A1,upstream_gene_variant,,ENST00000409294,;	uc002ruc.3	c.901C>T	977/2989	2	2			c.901C>T						2	SNP	c.(901-903)CGG>TGG	34	34				0	Broad	solute carrier family 3, member 1		L-Cystine(DB00138)	44527119		0.363	ENSG00000138079	14399	g.chr2:44527119C>T	carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity							-48.500902	KEEP	1	7	-1	143	142	1	7	-1	13.176656	143	142	0.027888	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC3A1_uc002rty.2_Missense_Mutation_p.R301W|SLC3A1_uc002rtz.2_Missense_Mutation_p.R301W|SLC3A1_uc002rua.2_Missense_Mutation_p.R301W|SLC3A1_uc002rub.2_Missense_Mutation_p.R301W|SLC3A1_uc002rud.3_Missense_Mutation_p.R23W	29	GBM-06-0158-TP	p.R301W	C	GGAAATTTTACGGTTCTGGCT	NM_000341	NP_000332	44527119	Q07837	SLC31_HUMAN	0			5	979	+	T	T		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Missense_Mutation	301			Extracellular (Potential).			
SLC3A2	0	broad.mit.edu	GRCh37	11	62623803	62623803	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-41-2572-01	TCGA-41-2572-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377890.2:c.62G>T	p.Gly21Val	p.G21V	ENST00000377890	NM_002394.5	21	gGc/gTc	0			1			T	G/V	uc001nwd.2	protein_coding		CCDS8039.2			62/1893										0	c.(61-63)GGC>GTC				solute carrier family 3, member 2 isoform c				ENSP00000367122		12-Jan									COSM689833	12-Jan	.		ENST00000377890	Transcript			blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	ENSG00000168003	g.chr11:62623803G>T	11026			MODERATE		2.035	medium	getma.org/?cm=msa&ty=f&p=4F2_HUMAN&rb=1&re=200&var=G21V	NA	getma.org/?cm=var&var=hg19,11,62623803,G,T&fts=all	G21V	--	--	1																																		SLC3A2_uc001nwb.2_Missense_Mutation_p.G21V|SLC3A2_uc001nwc.2_Missense_Mutation_p.G21V|SLC3A2_uc001nwe.2_Missense_Mutation_p.G21V|SLC3A2_uc001nwf.2_Missense_Mutation_p.G21V|SNHG1_uc001nvp.2_5'Flank|SNHG1_uc001nvo.2_5'Flank|SNHG1_uc001nvq.2_5'Flank|SNHG1_uc001nvs.2_5'Flank|SNHG1_uc001nvr.2_5'Flank|SNHG1_uc001nvt.2_5'Flank|SNHG1_uc001nvu.2_5'Flank|SNORD31_uc009yoj.1_5'Flank|SNORD30_uc001nvw.1_5'Flank|SNORD29_uc001nvx.2_5'Flank|SNORD28_uc001nvy.1_5'Flank|SNORD27_uc001nvz.2_5'Flank|SNORD26_uc009yok.1_5'Flank|SNORD25_uc001nwa.3_5'Flank	1			benign(0.179)	p.G21V	NM_002394	NP_002385		tolerated_low_confidence(0.09)	1	4F2_HUMAN	SLC3A2	HGNC	P08195	4F2_HUMAN			F5H867_HUMAN,F5H056_HUMAN,F5GZI0_HUMAN,B4E2Z3_HUMAN		1	286	+			UPI000013E757	21					SNV	SLC3A2,missense_variant,p.Gly21Val,ENST00000377892,;SLC3A2,missense_variant,p.Gly21Val,ENST00000377891,NM_001012662.2;SLC3A2,missense_variant,p.Gly21Val,ENST00000377890,NM_002394.5;SLC3A2,missense_variant,p.Gly21Val,ENST00000535296,;SLC3A2,missense_variant,p.Gly21Val,ENST00000377889,NM_001012664.2;SNHG1,upstream_gene_variant,,ENST00000537925,;SNHG1,upstream_gene_variant,,ENST00000540725,;SNHG1,upstream_gene_variant,,ENST00000539921,;SNHG1,upstream_gene_variant,,ENST00000537869,;SNHG1,upstream_gene_variant,,ENST00000539975,;SNHG1,upstream_gene_variant,,ENST00000542112,;SNHG1,upstream_gene_variant,,ENST00000545440,;SNHG1,upstream_gene_variant,,ENST00000541615,;SNHG1,upstream_gene_variant,,ENST00000537068,;SNHG1,upstream_gene_variant,,ENST00000541578,;SNHG1,upstream_gene_variant,,ENST00000538266,;SNHG1,upstream_gene_variant,,ENST00000539303,;SNHG1,upstream_gene_variant,,ENST00000384756,NR_000008.2;SNHG1,upstream_gene_variant,,ENST00000516331,;SNHG1,upstream_gene_variant,,ENST00000384147,NR_002564.1;SNHG1,upstream_gene_variant,,ENST00000384706,NR_002562.1;SNHG1,upstream_gene_variant,,ENST00000363981,NR_002563.1;SNHG1,upstream_gene_variant,,ENST00000364799,NR_002560.1;SNHG1,upstream_gene_variant,,ENST00000384693,NR_002561.1;SNHG1,upstream_gene_variant,,ENST00000383926,NR_002559.1;SNHG1,upstream_gene_variant,,ENST00000365607,NR_002565.1;SNHG1,upstream_gene_variant,,ENST00000538654,;SNHG1,upstream_gene_variant,,ENST00000541416,;SNHG1,upstream_gene_variant,,ENST00000544983,;SNHG1,upstream_gene_variant,,ENST00000535076,;SNHG1,upstream_gene_variant,,ENST00000540865,;SNHG1,upstream_gene_variant,,ENST00000545308,;SNHG1,upstream_gene_variant,,ENST00000544550,;SNHG1,upstream_gene_variant,,ENST00000545920,;SNHG1,upstream_gene_variant,,ENST00000545688,;SNHG1,upstream_gene_variant,,ENST00000540904,;SNHG1,upstream_gene_variant,,ENST00000537965,;SNHG1,upstream_gene_variant,,ENST00000535689,;SNHG1,upstream_gene_variant,,ENST00000537024,;	uc001nwd.2	c.62G>T	230/2161	2	2			c.62G>T						11	SNP	c.(61-63)GGC>GTC	46	46				0	Broad	solute carrier family 3, member 2 isoform c			62623803		0.647	ENSG00000168003	14400	g.chr11:62623803G>T	blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding							-21.02877	KEEP	4	6	0.4	81	95	4	6	0.4	8.690639	81	95	0.066225	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC3A2_uc001nwb.2_Missense_Mutation_p.G21V|SLC3A2_uc001nwc.2_Missense_Mutation_p.G21V|SLC3A2_uc001nwe.2_Missense_Mutation_p.G21V|SLC3A2_uc001nwf.2_Missense_Mutation_p.G21V|SNHG1_uc001nvp.2_5'Flank|SNHG1_uc001nvo.2_5'Flank|SNHG1_uc001nvq.2_5'Flank|SNHG1_uc001nvs.2_5'Flank|SNHG1_uc001nvr.2_5'Flank|SNHG1_uc001nvt.2_5'Flank|SNHG1_uc001nvu.2_5'Flank|SNORD31_uc009yoj.1_5'Flank|SNORD30_uc001nvw.1_5'Flank|SNORD29_uc001nvx.2_5'Flank|SNORD28_uc001nvy.1_5'Flank|SNORD27_uc001nvz.2_5'Flank|SNORD26_uc009yok.1_5'Flank|SNORD25_uc001nwa.3_5'Flank	251	GBM-41-2572-TP	p.G21V	G	CAGTTGCCTGGCTCACATTCG	NM_002394	NP_002385	62623803	P08195	4F2_HUMAN	0			1	286	+	T	T			Missense_Mutation	21						
SLC44A2	57153		GRCh37	19	10748353	10748353	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000335757.5:c.1625C>T	p.Thr542Ile	p.T542I	ENST00000335757		542	aCc/aTc	0																																																																																																																																																																																																																																												
SLC44A3	0	broad.mit.edu	GRCh37	1	95322914	95322914	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2521-01	TCGA-27-2521-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000271227.6:c.1096G>A	p.Gly366Ser	p.G366S	ENST00000271227	NM_001258340.1	366	Ggc/Agc	0			1			A	G/S	uc001dqv.3	protein_coding	YES	CCDS44176.1			1096/1962									kidney(1)	1	c.(1096-1098)GGC>AGC			Pfam_domain:PF04515,hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF13	solute carrier family 44, member 3 isoform 1	Choline(DB00122)			ENSP00000271227		15-Oct	1.65E-05			0.000116				6.24E-05	rs750325501,COSM3747850,COSM3747849	15-Oct	.		ENST00000271227	Transcript				integral to membrane|plasma membrane	choline transmembrane transporter activity	ENSG00000143036	g.chr1:95322914G>A	28689			MODERATE		1.46	low	getma.org/?cm=msa&ty=f&p=CTL3_HUMAN&rb=286&re=606&var=G366S	NA	getma.org/?cm=var&var=hg19,1,95322914,G,A&fts=all	G366S	--	--	1																																		SLC44A3_uc001dqx.3_Missense_Mutation_p.G366S|SLC44A3_uc010otq.1_Missense_Mutation_p.G298S|SLC44A3_uc010otr.1_Missense_Mutation_p.G330S|SLC44A3_uc001dqw.3_Missense_Mutation_p.G318S|SLC44A3_uc010ots.1_Missense_Mutation_p.G286S|SLC44A3_uc009wds.2_Missense_Mutation_p.G269S|SLC44A3_uc010ott.1_Missense_Mutation_p.G286S|SLC44A3_uc010otu.1_RNA	0,1,1	1		possibly_damaging(0.595)	p.G366S	NM_001114106	NP_001107578		deleterious(0.01)	0,1,1	CTL3_HUMAN	SLC44A3	HGNC	Q8N4M1	CTL3_HUMAN		all cancers(265;0.039)|Epithelial(280;0.124)	F8W7F3_HUMAN		10	1203	+		all_lung(203;0.000712)|Lung NSC(277;0.00316)	UPI0000206066	366					SNV	SLC44A3,missense_variant,p.Gly366Ser,ENST00000271227,NM_001258340.1,NM_001114106.2,NM_001258341.1;SLC44A3,missense_variant,p.Gly330Ser,ENST00000446120,NM_001258342.1;SLC44A3,missense_variant,p.Gly318Ser,ENST00000467909,NM_152369.4;SLC44A3,missense_variant,p.Gly334Ser,ENST00000529450,;SLC44A3,missense_variant,p.Gly298Ser,ENST00000527077,NM_001258343.1;SLC44A3,missense_variant,p.Gly286Ser,ENST00000532427,;RP11-465K1.2,upstream_gene_variant,,ENST00000422162,;SLC44A3,non_coding_transcript_exon_variant,,ENST00000530397,;SLC44A3,3_prime_UTR_variant,,ENST00000475883,;RP11-465K1.2,upstream_gene_variant,,ENST00000532087,;	uc001dqv.3	c.1096G>A	1198/2388	2	2			c.1096G>A						1	SNP	c.(1096-1098)GGC>AGC	21	21			kidney(1)	1	Broad	solute carrier family 44, member 3 isoform 1		Choline(DB00122)	95322914		0.458	ENSG00000143036	14410	g.chr1:95322914G>A		integral to membrane|plasma membrane	choline transmembrane transporter activity							10.376147	KEEP	6	9	-1	57	79	6	9	-1	32.138581	57	79	0.101449	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC44A3_uc001dqx.3_Missense_Mutation_p.G366S|SLC44A3_uc010otq.1_Missense_Mutation_p.G298S|SLC44A3_uc010otr.1_Missense_Mutation_p.G330S|SLC44A3_uc001dqw.3_Missense_Mutation_p.G318S|SLC44A3_uc010ots.1_Missense_Mutation_p.G286S|SLC44A3_uc009wds.2_Missense_Mutation_p.G269S|SLC44A3_uc010ott.1_Missense_Mutation_p.G286S|SLC44A3_uc010otu.1_RNA	200	GBM-27-2521-TP	p.G366S	G	TATGGAAGGCGGCCAAGTGGA	NM_001114106	NP_001107578	95322914	Q8N4M1	CTL3_HUMAN	0		all cancers(265;0.039)|Epithelial(280;0.124)	10	1203	+	A	A		all_lung(203;0.000712)|Lung NSC(277;0.00316)	Missense_Mutation	366						
SLC44A3	126969		GRCh37	1	95357932	95357932	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000271227.6:c.1722del	p.Phe574LeufsTer4	p.F574Lfs*4	ENST00000271227	NM_001258340.1	572	gcT/gc	0																																																																																																																																																																																																																																												
SLC44A4	0	broad.mit.edu	GRCh37	6	31838592	31838592	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5219-01	TCGA-28-5219-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000229729.6:c.934G>A	p.Ala312Thr	p.A312T	ENST00000229729	NM_025257.2	312	Gcc/Acc	0			1			T	A/T	uc010jti.2	protein_coding	YES	CCDS4724.2			934/2133									large_intestine(2)|ovary(1)|central_nervous_system(1)	4	c.(934-936)GCC>ACC			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF37,Pfam_domain:PF04515	choline transporter-like protein 4	Choline(DB00122)			ENSP00000229729		21-Oct									rs745490493,COSM3410950	21-Oct	.		ENST00000229729	Transcript				integral to membrane|plasma membrane	choline transmembrane transporter activity	ENSG00000204385	g.chr6:31838592C>T	13941			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=CTL4_HUMAN&rb=311&re=679&var=A312T	NA	getma.org/?cm=var&var=hg19,6,31838592,C,T&fts=all	A312T	--	--	1																																		SLC44A4_uc011dol.1_Missense_Mutation_p.A236T|SLC44A4_uc011dom.1_Missense_Mutation_p.A270T	0,1	1		possibly_damaging(0.49)	p.A312T	NM_025257	NP_079533		deleterious(0)	0,1	CTL4_HUMAN	SLC44A4	HGNC	Q53GD3	CTL4_HUMAN					10	1000	-			UPI00004702CE	312			Helical; (Potential).		SNV	SLC44A4,missense_variant,p.Ala236Thr,ENST00000544672,NM_001178045.1;SLC44A4,missense_variant,p.Ala312Thr,ENST00000229729,NM_025257.2;SLC44A4,missense_variant,p.Ala270Thr,ENST00000375562,NM_001178044.1;SLC44A4,intron_variant,,ENST00000414427,;SLC44A4,downstream_gene_variant,,ENST00000465707,;SLC44A4,downstream_gene_variant,,ENST00000462671,;SLC44A4,non_coding_transcript_exon_variant,,ENST00000479777,;SLC44A4,non_coding_transcript_exon_variant,,ENST00000475563,;	uc010jti.2	c.934G>A	955/2589	2	2			c.934G>A						6	SNP	c.(934-936)GCC>ACC	24	24			large_intestine(2)|ovary(1)|central_nervous_system(1)	4	Broad	choline transporter-like protein 4		Choline(DB00122)	31838592		0.692	ENSG00000204385	14411	g.chr6:31838592C>T		integral to membrane|plasma membrane	choline transmembrane transporter activity							65.726546	KEEP	15	17	-1	38	35	15	17	-1	68.530176	38	35	0.315217	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC44A4_uc011dol.1_Missense_Mutation_p.A236T|SLC44A4_uc011dom.1_Missense_Mutation_p.A270T	225	GBM-28-5219-TP	p.A312T	C	CACTCACGGGCGGCCAGCCAG	NM_025257	NP_079533	31838592	Q53GD3	CTL4_HUMAN	0			10	1000	-	T	T			Missense_Mutation	312			Helical; (Potential).			
SLC44A5	0	broad.mit.edu	GRCh37	1	75708695	75708695	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	rs148670291		TCGA-32-2495-01	TCGA-32-2495-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370855.5:c.347T>C	p.Ile116Thr	p.I116T	ENST00000370855	NM_152697.4	116	aTc/aCc	0	G:0.0002		1			G	I/T	uc001dgu.2	protein_coding	YES	CCDS667.1			347/2160									ovary(2)|skin(2)	4	c.(346-348)ATC>ACC			hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF42	solute carrier family 44, member 5 isoform A			G:0	ENSP00000359892		24-Aug									rs148670291,COSM3401002,COSM3401003	24-Aug	.		ENST00000370855	Transcript				integral to membrane|plasma membrane	choline transmembrane transporter activity	ENSG00000137968	g.chr1:75708695A>G	28524			MODERATE		2.66	medium	getma.org/?cm=msa&ty=f&p=CTL5_HUMAN&rb=1&re=200&var=I116T	NA	getma.org/?cm=var&var=hg19,1,75708695,A,G&fts=all	I116T	--	--	1																																		SLC44A5_uc001dgt.2_Missense_Mutation_p.I116T|SLC44A5_uc001dgs.2_Missense_Mutation_p.I74T|SLC44A5_uc001dgr.2_Missense_Mutation_p.I74T|SLC44A5_uc010oqz.1_Missense_Mutation_p.I155T|SLC44A5_uc010ora.1_Missense_Mutation_p.I110T|SLC44A5_uc010orb.1_5'UTR	0,1,1	1		benign(0.439)	p.I116T	NM_152697	NP_689910		deleterious(0.04)	0,1,1	CTL5_HUMAN	SLC44A5	HGNC	Q8NCS7	CTL5_HUMAN			B7Z473_HUMAN		8	491	-			UPI000013E195	116			Extracellular (Potential).		SNV	SLC44A5,missense_variant,p.Ile116Thr,ENST00000370855,NM_152697.4;SLC44A5,missense_variant,p.Ile116Thr,ENST00000370859,NM_001130058.1;SLC44A5,splice_region_variant,,ENST00000535611,;SLC44A5,splice_region_variant,,ENST00000469525,;	uc001dgu.2	c.347T>C	461/4406	3	3			c.347T>C						1	SNP	c.(346-348)ATC>ACC	15	15			ovary(2)|skin(2)	4	Broad	solute carrier family 44, member 5 isoform A			75708695		0.383	ENSG00000137968	14412	g.chr1:75708695A>G		integral to membrane|plasma membrane	choline transmembrane transporter activity							204.110908	KEEP	32	41	-1	67	61	32	41	-1	207.209662	67	61	0.356725	1	0	0	0	0	1	0	0	0	--	--		0	G			SLC44A5_uc001dgt.2_Missense_Mutation_p.I116T|SLC44A5_uc001dgs.2_Missense_Mutation_p.I74T|SLC44A5_uc001dgr.2_Missense_Mutation_p.I74T|SLC44A5_uc010oqz.1_Missense_Mutation_p.I155T|SLC44A5_uc010ora.1_Missense_Mutation_p.I110T|SLC44A5_uc010orb.1_5'UTR	237	GBM-32-2495-TP	p.I116T	A	GGAGACACAGATCTGTGAACG	NM_152697	NP_689910	75708695	Q8NCS7	CTL5_HUMAN	0			8	491	-	G	G			Missense_Mutation	116			Extracellular (Potential).			
SLC44A5	0	broad.mit.edu	GRCh37	1	75708631	75708631	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-41-2573-01	TCGA-41-2573-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370855.5:c.411A>T	p.Lys137Asn	p.K137N	ENST00000370855	NM_152697.4	137	aaA/aaT	0			1			A	K/N	uc001dgu.2	protein_coding	YES	CCDS667.1			411/2160									ovary(2)|skin(2)	4	c.(409-411)AAA>AAT			hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF42	solute carrier family 44, member 5 isoform A				ENSP00000359892		24-Aug									COSM3401000,COSM3401001	24-Aug	.		ENST00000370855	Transcript				integral to membrane|plasma membrane	choline transmembrane transporter activity	ENSG00000137968	g.chr1:75708631T>A	28524			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=CTL5_HUMAN&rb=1&re=200&var=K137N	NA	getma.org/?cm=var&var=hg19,1,75708631,T,A&fts=all	K137N	--	--	1																																		SLC44A5_uc001dgt.2_Missense_Mutation_p.K137N|SLC44A5_uc001dgs.2_Missense_Mutation_p.K95N|SLC44A5_uc001dgr.2_Missense_Mutation_p.K95N|SLC44A5_uc010oqz.1_Missense_Mutation_p.K176N|SLC44A5_uc010ora.1_Missense_Mutation_p.K131N|SLC44A5_uc010orb.1_Missense_Mutation_p.K7N	1,1	1		benign(0.002)	p.K137N	NM_152697	NP_689910		tolerated(0.56)	1,1	CTL5_HUMAN	SLC44A5	HGNC	Q8NCS7	CTL5_HUMAN			B7Z473_HUMAN		8	555	-			UPI000013E195	137			Extracellular (Potential).		SNV	SLC44A5,missense_variant,p.Lys137Asn,ENST00000370855,NM_152697.4;SLC44A5,missense_variant,p.Lys137Asn,ENST00000370859,NM_001130058.1;SLC44A5,missense_variant,p.Lys7Asn,ENST00000535611,;SLC44A5,non_coding_transcript_exon_variant,,ENST00000469525,;	uc001dgu.2	c.411A>T	525/4406	1	1			c.411A>T						1	SNP	c.(409-411)AAA>AAT	62	62			ovary(2)|skin(2)	4	Broad	solute carrier family 44, member 5 isoform A			75708631		0.393	ENSG00000137968	14412	g.chr1:75708631T>A		integral to membrane|plasma membrane	choline transmembrane transporter activity							120.16281	KEEP	29	27	-1	92	79	29	27	-1	133.83546	92	79	0.233333	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC44A5_uc001dgt.2_Missense_Mutation_p.K137N|SLC44A5_uc001dgs.2_Missense_Mutation_p.K95N|SLC44A5_uc001dgr.2_Missense_Mutation_p.K95N|SLC44A5_uc010oqz.1_Missense_Mutation_p.K176N|SLC44A5_uc010ora.1_Missense_Mutation_p.K131N|SLC44A5_uc010orb.1_Missense_Mutation_p.K7N	252	GBM-41-2573-TP	p.K137N	T	AGCTTTTGTCTTTTGTGTACA	NM_152697	NP_689910	75708631	Q8NCS7	CTL5_HUMAN	0			8	555	-	A	A			Missense_Mutation	137			Extracellular (Potential).			
SLC45A1	50651	broad.mit.edu	GRCh37	1	8403928	8403928	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0128-01	TCGA-06-0128-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000471889.1:c.2102C>T	p.Ala701Val	p.A701V	ENST00000471889		701	gCc/gTc	0			1			T	A/V	uc001apb.2	protein_coding		CCDS30577.1			2102/2247								p.A701V(1)	central_nervous_system(2)|pancreas(1)|skin(1)	4	c.(2101-2103)GCC>GTC			Transmembrane_helices:TMhelix,Superfamily_domains:SSF103473,Gene3D:1.20.1250.20,hmmpanther:PTHR19432:SF6,hmmpanther:PTHR19432	DNB5				ENSP00000289877		8-Aug									COSM42650,COSM3401036	8-Aug	.		ENST00000289877	Transcript			carbohydrate transport	integral to membrane	symporter activity	ENSG00000162426	g.chr1:8403928C>T	17939			MODERATE		0.765	neutral	getma.org/?cm=msa&ty=f&p=S45A1_HUMAN&rb=573&re=748&var=A701V	NA	getma.org/?cm=var&var=hg19,1,8403928,C,T&fts=all	A701V	--	--	1																																		SLC45A1_uc001apc.2_Missense_Mutation_p.A399V	1,1			benign(0.005)	p.A701V	NM_001080397	NP_001073866		tolerated(0.72)	1,1	S45A1_HUMAN	SLC45A1	HGNC	Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)			8	2102	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	UPI000040EA42	701			Helical; (Potential).		SNV	SLC45A1,missense_variant,p.Ala701Val,ENST00000471889,;SLC45A1,missense_variant,p.Ala735Val,ENST00000377479,;SLC45A1,missense_variant,p.Ala701Val,ENST00000289877,NM_001080397.1;SLC45A1,non_coding_transcript_exon_variant,,ENST00000497660,;	uc001apb.2	c.2102C>T	2102/2401	1	1			c.2102C>T						1	SNP	c.(2101-2103)GCC>GTC	3	3		p.A701V(1)	central_nervous_system(2)|pancreas(1)|skin(1)	4	Broad	DNB5			8403928		0.617	ENSG00000162426	14413	g.chr1:8403928C>T	carbohydrate transport	integral to membrane	symporter activity							27.943847	KEEP	5	12	-1	54	43	5	12	-1	38.062049	54	43	0.166667	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC45A1_uc001apc.2_Missense_Mutation_p.A399V	14	GBM-06-0128-TP	p.A701V	C	CTGACCTCGGCCGTGGGCAGT	NM_001080397	NP_001073866	8403928	Q9Y2W3	S45A1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	8	2102	+	T	T	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	Missense_Mutation	701			Helical; (Potential).			
SLC45A1	50651	broad.mit.edu	GRCh37	1	8390537	8390537	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0188-01	TCGA-06-0188-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000471889.1:c.984G>A	p.Ser328=	p.S328=	ENST00000471889		328	tcG/tcA	0		A:0	1	A:0		A	S	uc001apb.2	protein_coding		CCDS30577.1			984/2247									central_nervous_system(2)|pancreas(1)|skin(1)	4	c.(982-984)TCG>TCA			hmmpanther:PTHR19432:SF6,hmmpanther:PTHR19432	DNB5		A:0.001		ENSP00000289877	A:0	8-Apr	0.000107			0.0013		3.17E-05			rs200823214,COSM2150603,COSM3401033	8-Apr	common_variant		ENST00000289877	Transcript		A:0.0002	carbohydrate transport	integral to membrane	symporter activity	ENSG00000162426	g.chr1:8390537G>A	17939			LOW								--	--	1																																		SLC45A1_uc001apc.2_Silent_p.S26S	0,1,1				p.S328S	NM_001080397	NP_001073866	A:0		0,1,1	S45A1_HUMAN	SLC45A1	HGNC	Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)			4	984	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	UPI000040EA42	328					SNV	SLC45A1,synonymous_variant,p.=,ENST00000471889,;SLC45A1,synonymous_variant,p.=,ENST00000377479,;SLC45A1,synonymous_variant,p.=,ENST00000289877,NM_001080397.1;Y_RNA,downstream_gene_variant,,ENST00000516445,;SLC45A1,non_coding_transcript_exon_variant,,ENST00000481265,;SLC45A1,non_coding_transcript_exon_variant,,ENST00000497660,;	uc001apb.2	c.984G>A	984/2401	2	2			c.984G>A						1	SNP	c.(982-984)TCG>TCA	25	25			central_nervous_system(2)|pancreas(1)|skin(1)	4	Broad	DNB5			8390537		0.697	ENSG00000162426	14413	g.chr1:8390537G>A	carbohydrate transport	integral to membrane	symporter activity							68.228683	KEEP	14	13	-1	16	14	14	13	-1	68.246211	16	14	0.479167	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC45A1_uc001apc.2_Silent_p.S26S	41	GBM-06-0188-TP	p.S328S	G	GCCTCCCGTCGCACACGGCCA	NM_001080397	NP_001073866	8390537	Q9Y2W3	S45A1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	4	984	+	A	A	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	Silent	328						
SLC45A3	85414	broad.mit.edu	GRCh37	1	205632669	205632669	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0128-01	TCGA-06-0128-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367145.3:c.250C>T	p.Arg84Cys	p.R84C	ENST00000367145	NM_033102.2	84	Cgc/Tgc	0			1			A	R/C	uc001hda.1	protein_coding	YES	CCDS1458.1			250/1662	T		ETV1|ETV5|ELK4|ERG		prostate		SLC45A3/BRAF(2)		ovary(2)|prostate(2)	4	c.(250-252)CGC>TGC			hmmpanther:PTHR19432:SF29,hmmpanther:PTHR19432,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	prostein				ENSP00000356113		5-Mar	3.32E-05					6.39E-05			rs772584733,COSM2149490	5-Mar	.		ENST00000367145	Transcript			transmembrane transport	integral to membrane		ENSG00000158715	g.chr1:205632669G>A	8642			MODERATE		2.94	medium	getma.org/?cm=msa&ty=f&p=S45A3_HUMAN&rb=18&re=308&var=R84C	NA	getma.org/?cm=var&var=hg19,1,205632669,G,A&fts=all	R84C	--	--	1																																		SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_5'UTR|SLC45A3_uc010prp.1_Intron|ELK4_uc010prq.1_Intron	0,1	1		probably_damaging(1)	p.R84C	NM_033102	NP_149093		deleterious(0.02)	0,1	S45A3_HUMAN	SLC45A3	HGNC	Q96JT2	S45A3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		Q658X7_HUMAN,A8K2U9_HUMAN		3	589	-	Breast(84;0.07)		UPI0000039836	84					SNV	SLC45A3,missense_variant,p.Arg84Cys,ENST00000367145,NM_033102.2;SLC45A3,upstream_gene_variant,,ENST00000460934,;	uc001hda.1	c.250C>T	546/3341	1	1			c.250C>T	T		ETV1|ETV5|ELK4|ERG		prostate	1	SNP	c.(250-252)CGC>TGC	63	63	SLC45A3/BRAF(2)		ovary(2)|prostate(2)	4	Broad	prostein			205632669		0.637	ENSG00000158715	14415	g.chr1:205632669G>A	transmembrane transport	integral to membrane				123			123	46.062802	KEEP	17	14	-1	18	27	17	14	-1	46.750517	18	27	0.369565	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_5'UTR|SLC45A3_uc010prp.1_Intron|ELK4_uc010prq.1_Intron	14	GBM-06-0128-TP	p.R84C	G	GGCCGGCGGCGGCCATAGCGT	NM_033102	NP_149093	205632669	Q96JT2	S45A3_HUMAN	0	BRCA - Breast invasive adenocarcinoma(75;0.0194)		3	589	-	A	A	Breast(84;0.07)		Missense_Mutation	84						
SLC45A3	0	broad.mit.edu	GRCh37	1	205632180	205632180	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01	TCGA-19-5955-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367145.3:c.739C>T	p.Arg247Cys	p.R247C	ENST00000367145	NM_033102.2	247	Cgc/Tgc	0	A:0		1			A	R/C	uc001hda.1	protein_coding	YES	CCDS1458.1			739/1662	T		ETV1|ETV5|ELK4|ERG		prostate		SLC45A3/BRAF(2)		ovary(2)|prostate(2)	4	c.(739-741)CGC>TGC			hmmpanther:PTHR19432:SF29,hmmpanther:PTHR19432,Pfam_domain:PF07690,Superfamily_domains:SSF103473	prostein			A:0.0001	ENSP00000356113		5-Mar	4.96E-05		8.85E-05			4.82E-05		0.000129	rs374541335,COSM3400234	5-Mar	.		ENST00000367145	Transcript			transmembrane transport	integral to membrane		ENSG00000158715	g.chr1:205632180G>A	8642			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=S45A3_HUMAN&rb=18&re=308&var=R247C	NA	getma.org/?cm=var&var=hg19,1,205632180,G,A&fts=all	R247C	--	--	1																																		SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_Missense_Mutation_p.R81C|SLC45A3_uc010prp.1_Intron|ELK4_uc010prq.1_Intron	0,1	1		possibly_damaging(0.67)	p.R247C	NM_033102	NP_149093		tolerated(0.08)	0,1	S45A3_HUMAN	SLC45A3	HGNC	Q96JT2	S45A3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		Q658X7_HUMAN,A8K2U9_HUMAN		3	1078	-	Breast(84;0.07)		UPI0000039836	247					SNV	SLC45A3,missense_variant,p.Arg247Cys,ENST00000367145,NM_033102.2;SLC45A3,upstream_gene_variant,,ENST00000460934,;	uc001hda.1	c.739C>T	1035/3341	1	1			c.739C>T	T		ETV1|ETV5|ELK4|ERG		prostate	1	SNP	c.(739-741)CGC>TGC	54	54	SLC45A3/BRAF(2)		ovary(2)|prostate(2)	4	Broad	prostein			205632180		0.716	ENSG00000158715	14415	g.chr1:205632180G>A	transmembrane transport	integral to membrane				123			123	-2.911628	KEEP	1	2	-1	17	31	1	2	-1	6.390832	17	31	0.06383	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_Missense_Mutation_p.R81C|SLC45A3_uc010prp.1_Intron|ELK4_uc010prq.1_Intron	175	GBM-19-5955-TP	p.R247C	G	AAAGCCAAGCGGGCCCGGCAT	NM_033102	NP_149093	205632180	Q96JT2	S45A3_HUMAN	0	BRCA - Breast invasive adenocarcinoma(75;0.0194)		3	1078	-	A	A	Breast(84;0.07)		Missense_Mutation	247						
SLC45A4	57210	broad.mit.edu	GRCh37	8	142229845	142229845	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01	TCGA-06-0645-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000024061.3:c.361G>A	p.Ala121Thr	p.A121T	ENST00000024061	NM_001080431.1	121	Gcc/Acc	0			1			T	A/T	uc003ywd.1	protein_coding	YES	CCDS34948.1			361/2397									ovary(2)	2	c.(361-363)GCC>ACC			Transmembrane_helices:TMhelix,hmmpanther:PTHR19432:SF7,hmmpanther:PTHR19432,Gene3D:1.20.1250.20,Pfam_domain:PF13347,Superfamily_domains:SSF103473	solute carrier family 45, member 4				ENSP00000024061		8-Mar	1.65E-05					4.37E-05			rs772292763,COSM2151245	8-Mar	.		ENST00000024061	Transcript			transport	integral to membrane		ENSG00000022567	g.chr8:142229845C>T	29196			MODERATE		2.075	medium	getma.org/?cm=msa&ty=f&p=S45A4_HUMAN&rb=51&re=269&var=A172T	NA	getma.org/?cm=var&var=hg19,8,142229845,C,T&fts=all	A172T	--	--	1																																		SLC45A4_uc003ywc.1_Missense_Mutation_p.A121T|SLC45A4_uc010meq.1_Missense_Mutation_p.A119T	0,1	1		benign(0.276)	p.A121T	NM_001080431	NP_001073900		deleterious(0)	0,1	S45A4_HUMAN	SLC45A4	HGNC	Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		E5RJM7_HUMAN		3	669	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		UPI0000237468	172			Helical; (Potential).		SNV	SLC45A4,missense_variant,p.Ala121Thr,ENST00000519067,NM_001286648.1;SLC45A4,missense_variant,p.Ala121Thr,ENST00000024061,NM_001080431.1;SLC45A4,missense_variant,p.Ala172Thr,ENST00000517878,;SLC45A4,missense_variant,p.Ala114Thr,ENST00000433583,;SLC45A4,5_prime_UTR_variant,,ENST00000520137,;SLC45A4,downstream_gene_variant,,ENST00000519986,;	uc003ywd.1	c.361G>A	669/3546	1	1			c.361G>A						8	SNP	c.(361-363)GCC>ACC	5	5			ovary(2)	2	Broad	solute carrier family 45, member 4			142229845		0.657	ENSG00000022567	14416	g.chr8:142229845C>T	transport	integral to membrane								14.943373	KEEP	3	3	-1	10	9	3	3	-1	16.131506	10	9	0.26087	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC45A4_uc003ywc.1_Missense_Mutation_p.A121T|SLC45A4_uc010meq.1_Missense_Mutation_p.A119T	59	GBM-06-0645-TP	p.A121T	C	GTGGCATCGGCGCTGAAGTCC	NM_001080431	NP_001073900	142229845	Q5BKX6	S45A4_HUMAN	0	BRCA - Breast invasive adenocarcinoma(115;0.0493)		3	669	-	T	T	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	172			Helical; (Potential).			
SLC45A4	57210	broad.mit.edu	GRCh37	8	142231734	142231734	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0939-01	TCGA-06-0939-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000024061.3:c.219C>T	p.Leu73=	p.L73=	ENST00000024061	NM_001080431.1	73	ctC/ctT	0			1			A	L	uc003ywd.1	protein_coding	YES	CCDS34948.1			219/2397									ovary(2)	2	c.(217-219)CTC>CTT			Transmembrane_helices:TMhelix,hmmpanther:PTHR19432:SF7,hmmpanther:PTHR19432,Gene3D:1.20.1250.20,Pfam_domain:PF13347,Superfamily_domains:SSF103473	solute carrier family 45, member 4				ENSP00000024061		8-Feb									COSM2152400	8-Feb	.		ENST00000024061	Transcript			transport	integral to membrane		ENSG00000022567	g.chr8:142231734G>A	29196			LOW								--	--	1																																		SLC45A4_uc003ywc.1_Silent_p.L73L|SLC45A4_uc010meq.1_Silent_p.L71L	1	1			p.L73L	NM_001080431	NP_001073900			1	S45A4_HUMAN	SLC45A4	HGNC	Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		E5RJM7_HUMAN		2	527	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		UPI0000237468	124			Helical; (Potential).		SNV	SLC45A4,synonymous_variant,p.=,ENST00000519067,NM_001286648.1;SLC45A4,synonymous_variant,p.=,ENST00000024061,NM_001080431.1;SLC45A4,synonymous_variant,p.=,ENST00000517878,;SLC45A4,synonymous_variant,p.=,ENST00000433583,;SLC45A4,synonymous_variant,p.=,ENST00000519986,;SLC45A4,5_prime_UTR_variant,,ENST00000520137,;	uc003ywd.1	c.219C>T	527/3546	2	2			c.219C>T						8	SNP	c.(217-219)CTC>CTT	41	41			ovary(2)	2	Broad	solute carrier family 45, member 4			142231734		0.612	ENSG00000022567	14416	g.chr8:142231734G>A	transport	integral to membrane								123.392505	KEEP	30	25	-1	63	82	30	25	-1	128.392732	63	82	0.306667	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC45A4_uc003ywc.1_Silent_p.L73L|SLC45A4_uc010meq.1_Silent_p.L71L	78	GBM-06-0939-TP	p.L73L	G	CGCAGAGGGCGAGGATGAAGG	NM_001080431	NP_001073900	142231734	Q5BKX6	S45A4_HUMAN	0	BRCA - Breast invasive adenocarcinoma(115;0.0493)		2	527	-	A	A	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		Silent	124			Helical; (Potential).			
SLC45A4	0	broad.mit.edu	GRCh37	8	142228261	142228261	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000024061.3:c.1325C>T	p.Thr442Met	p.T442M	ENST00000024061	NM_001080431.1	442	aCg/aTg	0			1			A	T/M	uc003ywd.1	protein_coding	YES	CCDS34948.1			1325/2397									ovary(2)	2	c.(1324-1326)ACG>ATG			Low_complexity_(Seg):seg,hmmpanther:PTHR19432:SF7,hmmpanther:PTHR19432,Superfamily_domains:SSF103473	solute carrier family 45, member 4				ENSP00000024061		8-Apr	1.65E-05	9.89E-05				1.53E-05			rs764827415,COSM3412786	8-Apr	.		ENST00000024061	Transcript			transport	integral to membrane		ENSG00000022567	g.chr8:142228261G>A	29196			MODERATE		2.49	medium	getma.org/?cm=msa&ty=f&p=S45A4_HUMAN&rb=470&re=669&var=T493M	NA	getma.org/?cm=var&var=hg19,8,142228261,G,A&fts=all	T493M	--	--	1																																		SLC45A4_uc003ywc.1_Missense_Mutation_p.T442M|SLC45A4_uc010meq.1_Missense_Mutation_p.T440M	0,1	1		probably_damaging(0.987)	p.T442M	NM_001080431	NP_001073900		deleterious(0)	0,1	S45A4_HUMAN	SLC45A4	HGNC	Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		E5RJM7_HUMAN		4	1633	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		UPI0000237468	493					SNV	SLC45A4,missense_variant,p.Thr442Met,ENST00000519067,NM_001286648.1;SLC45A4,missense_variant,p.Thr442Met,ENST00000024061,NM_001080431.1;SLC45A4,missense_variant,p.Thr493Met,ENST00000517878,;SLC45A4,missense_variant,p.Thr435Met,ENST00000433583,;SLC45A4,downstream_gene_variant,,ENST00000520137,;SLC45A4,downstream_gene_variant,,ENST00000519986,;	uc003ywd.1	c.1325C>T	1633/3546	2	2			c.1325C>T						8	SNP	c.(1324-1326)ACG>ATG	39	39			ovary(2)	2	Broad	solute carrier family 45, member 4			142228261		0.682	ENSG00000022567	14416	g.chr8:142228261G>A	transport	integral to membrane								30.73805	KEEP	9	6	-1	35	25	9	6	-1	36.174013	35	25	0.205882	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC45A4_uc003ywc.1_Missense_Mutation_p.T442M|SLC45A4_uc010meq.1_Missense_Mutation_p.T440M	162	GBM-19-2620-TP	p.T442M	G	CAGGCGCACCGTGGTCTCGCC	NM_001080431	NP_001073900	142228261	Q5BKX6	S45A4_HUMAN	0	BRCA - Breast invasive adenocarcinoma(115;0.0493)		4	1633	-	A	A	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	493						
SLC46A2	57864	broad.mit.edu	GRCh37	9	115652489	115652489	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374228.4:c.473C>T	p.Ala158Val	p.A158V	ENST00000374228	NM_033051.3	158	gCg/gTg	0			1			A	A/V	uc004bgk.2	protein_coding	YES	CCDS6786.1			473/1428									central_nervous_system(1)	1	c.(472-474)GCG>GTG			Gene3D:1.20.1250.20,Pfam_domain:PF07690,hmmpanther:PTHR23038,hmmpanther:PTHR23038:SF41,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix	solute carrier family 46, member 2				ENSP00000363345		4-Jan	8.25E-06					1.61E-05			rs777014635,COSM2151191	4-Jan	.		ENST00000374228	Transcript				integral to membrane|plasma membrane	symporter activity	ENSG00000119457	g.chr9:115652489G>A	16055			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=TSCOT_HUMAN&rb=69&re=421&var=A158V	NA	getma.org/?cm=var&var=hg19,9,115652489,G,A&fts=all	A158V	--	--	1																																			0,1	1		possibly_damaging(0.907)	p.A158V	NM_033051	NP_149040		tolerated(0.05)	0,1	TSCOT_HUMAN	SLC46A2	HGNC	Q9BY10	TSCOT_HUMAN					1	705	-			UPI0000049F9E	158			Helical; Name=4; (Potential).		SNV	SLC46A2,missense_variant,p.Ala158Val,ENST00000374228,NM_033051.3;RP11-408O19.5,downstream_gene_variant,,ENST00000605480,;SLC46A2,missense_variant,p.Ala158Val,ENST00000491462,;	uc004bgk.2	c.473C>T	705/2502	2	2			c.473C>T						9	SNP	c.(472-474)GCG>GTG	17	17			central_nervous_system(1)	1	Broad	solute carrier family 46, member 2			115652489		0.682	ENSG00000119457	14418	g.chr9:115652489G>A		integral to membrane|plasma membrane	symporter activity							34.968623	KEEP	8	5	-1	9	10	8	5	-1	35.214166	9	10	0.40625	1	0	0	0	0	1	0	0	0	--	--		0	A				58	GBM-06-0644-TP	p.A158V	G	CGATCCCAGCGCCATGACCCC	NM_033051	NP_149040	115652489	Q9BY10	TSCOT_HUMAN	0			1	705	-	A	A			Missense_Mutation	158			Helical; Name=4; (Potential).			
SLC46A2	57864	broad.mit.edu	GRCh37	9	115652657	115652657	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01	TCGA-06-2562-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374228.4:c.305G>A	p.Arg102His	p.R102H	ENST00000374228	NM_033051.3	102	cGc/cAc	0			1			T	R/H	uc004bgk.2	protein_coding	YES	CCDS6786.1			305/1428									central_nervous_system(1)	1	c.(304-306)CGC>CAC			Gene3D:1.20.1250.20,Pfam_domain:PF07690,hmmpanther:PTHR23038,hmmpanther:PTHR23038:SF41,Superfamily_domains:SSF103473	solute carrier family 46, member 2				ENSP00000363345		4-Jan									COSM2152797	4-Jan	.		ENST00000374228	Transcript				integral to membrane|plasma membrane	symporter activity	ENSG00000119457	g.chr9:115652657C>T	16055			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=TSCOT_HUMAN&rb=69&re=421&var=R102H	NA	getma.org/?cm=var&var=hg19,9,115652657,C,T&fts=all	R102H	--	--	1																																			1	1		benign(0.303)	p.R102H	NM_033051	NP_149040		deleterious(0.01)	1	TSCOT_HUMAN	SLC46A2	HGNC	Q9BY10	TSCOT_HUMAN					1	537	-			UPI0000049F9E	102			Cytoplasmic (Potential).		SNV	SLC46A2,missense_variant,p.Arg102His,ENST00000374228,NM_033051.3;RP11-408O19.5,downstream_gene_variant,,ENST00000605480,;SLC46A2,missense_variant,p.Arg102His,ENST00000491462,;	uc004bgk.2	c.305G>A	537/2502	1	1			c.305G>A						9	SNP	c.(304-306)CGC>CAC	6	6			central_nervous_system(1)	1	Broad	solute carrier family 46, member 2			115652657		0.607	ENSG00000119457	14418	g.chr9:115652657C>T		integral to membrane|plasma membrane	symporter activity							110.386983	KEEP	29	32	-1	92	109	29	32	-1	125.483997	92	109	0.230088	1	0	0	0	0	1	0	0	0	--	--		0	T				85	GBM-06-2562-TP	p.R102H	C	TCGGTGGTAGCGGTCGCTGAG	NM_033051	NP_149040	115652657	Q9BY10	TSCOT_HUMAN	0			1	537	-	T	T			Missense_Mutation	102			Cytoplasmic (Potential).			
SLC46A3	283537	broad.mit.edu	GRCh37	13	29287613	29287613	+	synonymous_variant	Silent	SNP	T	T	A			TCGA-06-6390-01	TCGA-06-6390-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380814.4:c.264A>T	p.Thr88=	p.T88=	ENST00000380814		88	acA/acT	0			1			A	T	uc001usi.2	protein_coding		CCDS9332.1			264/1386									central_nervous_system(1)|skin(1)	2	c.(262-264)ACA>ACT			Transmembrane_helices:TMhelix,hmmpanther:PTHR23038:SF50,hmmpanther:PTHR23038,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	solute carrier family 46, member 3 isoform a				ENSP00000266943		6-Mar										6-Mar	.		ENST00000266943	Transcript			transmembrane transport	integral to membrane		ENSG00000139508	g.chr13:29287613T>A	27501			LOW								--	--	1																																		SLC46A3_uc001usg.2_Silent_p.T13T|SLC46A3_uc001usj.2_Silent_p.T88T|SLC46A3_uc001ush.2_Silent_p.T88T|SLC46A3_uc001usk.2_Silent_p.T13T					p.T88T	NM_181785	NP_861450				S46A3_HUMAN	SLC46A3	HGNC	Q7Z3Q1	S46A3_HUMAN		all cancers(112;0.159)			2	1234	-		Lung SC(185;0.0367)	UPI000013D717	88			Helical; (Potential).		SNV	SLC46A3,synonymous_variant,p.=,ENST00000266943,NM_181785.3,NM_001135919.1;SLC46A3,synonymous_variant,p.=,ENST00000380814,;	uc001usi.2	c.264A>T	634/3178	1	1			c.264A>T						13	SNP	c.(262-264)ACA>ACT	55	55			central_nervous_system(1)|skin(1)	2	Broad	solute carrier family 46, member 3 isoform a			29287613		0.378	ENSG00000139508	14419	g.chr13:29287613T>A	transmembrane transport	integral to membrane								26.420086	KEEP	5	6	-1	26	22	5	6	-1	31.016633	26	22	0.192308	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC46A3_uc001usg.2_Silent_p.T13T|SLC46A3_uc001usj.2_Silent_p.T88T|SLC46A3_uc001ush.2_Silent_p.T88T|SLC46A3_uc001usk.2_Silent_p.T13T	106	GBM-06-6390-TP	p.T88T	T	AAAGTATGAATGTAGACACTA	NM_181785	NP_861450	29287613	Q7Z3Q1	S46A3_HUMAN	0		all cancers(112;0.159)	2	1234	-	A	A		Lung SC(185;0.0367)	Silent	88			Helical; (Potential).			
SLC47A1	55244	broad.mit.edu	GRCh37	17	19459334	19459334	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01	TCGA-06-0214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000270570.4:c.880G>A	p.Ala294Thr	p.A294T	ENST00000270570	NM_018242.2	294	Gct/Act	0		A:0	1	A:0		A	A/T	uc002gvy.1	protein_coding	YES	CCDS11209.1			880/1713										0	c.(880-882)GCT>ACT			hmmpanther:PTHR11206,hmmpanther:PTHR11206:SF73,Pfam_domain:PF01554,TIGRFAM_domain:TIGR00797	solute carrier family 47, member 1		A:0		ENSP00000270570	A:0	17-Oct	0.000412		0.00026	0.000116		6.00E-05		0.00254	rs563267554,COSM3402658	17-Oct	common_variant		ENST00000270570	Transcript		A:0.0004		integral to membrane|plasma membrane	drug:hydrogen antiporter activity	ENSG00000142494	g.chr17:19459334G>A	25588			MODERATE		2.39	medium	getma.org/?cm=msa&ty=f&p=S47A1_HUMAN&rb=265&re=426&var=A294T	getma.org/pdb.php?prot=S47A1_HUMAN&from=265&to=426&var=A294T	getma.org/?cm=var&var=hg19,17,19459334,G,A&fts=all	A294T	--	--	1																																		SLC47A1_uc010vyy.1_RNA|SLC47A1_uc002gvx.2_Missense_Mutation_p.A294T|SLC47A1_uc010vyz.1_Missense_Mutation_p.A271T|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Missense_Mutation_p.A99T|SLC47A1_uc010vza.1_Missense_Mutation_p.A6T|SLC47A1_uc010vzb.1_Missense_Mutation_p.A28T|SLC47A1_uc010vzc.1_5'UTR|SNORA59B_uc002gvz.1_5'Flank	0,1	1		probably_damaging(0.997)	p.A294T	NM_018242	NP_060712	A:0.002	tolerated(0.07)	0,1	S47A1_HUMAN	SLC47A1	HGNC	Q96FL8	S47A1_HUMAN			B4E3B2_HUMAN,B4DPA7_HUMAN		10	966	+	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)		UPI0000071042	294			Extracellular (Potential).		SNV	SLC47A1,missense_variant,p.Ala294Thr,ENST00000270570,NM_018242.2;SLC47A1,missense_variant,p.Ala294Thr,ENST00000395585,;SLC47A1,missense_variant,p.Ala294Thr,ENST00000457293,;SLC47A1,missense_variant,p.Ala271Thr,ENST00000436810,;SLC47A1,missense_variant,p.Ala99Thr,ENST00000571335,;SLC47A1,3_prime_UTR_variant,,ENST00000542886,;SLC47A1,intron_variant,,ENST00000575023,;SNORA59B,upstream_gene_variant,,ENST00000458926,NR_003022.1;RP11-1113L8.1,downstream_gene_variant,,ENST00000574267,;SNORA59B,upstream_gene_variant,,ENST00000578183,;SLC47A1,downstream_gene_variant,,ENST00000584348,;SLC47A1,non_coding_transcript_exon_variant,,ENST00000497548,;SLC47A1,non_coding_transcript_exon_variant,,ENST00000575377,;SLC47A1,non_coding_transcript_exon_variant,,ENST00000573009,;SLC47A1,non_coding_transcript_exon_variant,,ENST00000495425,;	uc002gvy.1	c.880G>A	966/3280	2	2			c.880G>A						17	SNP	c.(880-882)GCT>ACT	40	40				0	Broad	solute carrier family 47, member 1			19459334		0.582	ENSG00000142494	14420	g.chr17:19459334G>A		integral to membrane|plasma membrane	drug:hydrogen antiporter activity							73.737308	KEEP	12	16	-1	27	24	12	16	-1	74.654303	27	24	0.376812	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC47A1_uc010vyy.1_RNA|SLC47A1_uc002gvx.2_Missense_Mutation_p.A294T|SLC47A1_uc010vyz.1_Missense_Mutation_p.A271T|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Missense_Mutation_p.A99T|SLC47A1_uc010vza.1_Missense_Mutation_p.A6T|SLC47A1_uc010vzb.1_Missense_Mutation_p.A28T|SLC47A1_uc010vzc.1_5'UTR|SNORA59B_uc002gvz.1_5'Flank	50	GBM-06-0214-TP	p.A294T	G	GGAGCTGGGCGCTCAGTCCAT	NM_018242	NP_060712	19459334	Q96FL8	S47A1_HUMAN	0			10	966	+	A	A	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)		Missense_Mutation	294			Extracellular (Potential).			
SLC4A1	6521	broad.mit.edu	GRCh37	17	42330498	42330498	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262418.6:c.2299G>A	p.Ala767Thr	p.A767T	ENST00000262418	NM_000342.3	767	Gct/Act	0			1			T	A/T	uc002igf.3	protein_coding	YES	CCDS11481.1			2299/2736									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(2299-2301)GCT>ACT			Pfam_domain:PF00955,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF12,Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR00834	solute carrier family 4, anion exchanger, member				ENSP00000262418		17/20	3.29E-05				0.000606				rs767620009,COSM3402930	17/20	common_variant		ENST00000262418	Transcript	1		bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	ENSG00000004939	g.chr17:42330498C>T	11027			MODERATE		3.055	medium	getma.org/?cm=msa&ty=f&p=B3AT_HUMAN&rb=556&re=839&var=A767T	NA	getma.org/?cm=var&var=hg19,17,42330498,C,T&fts=all	A767T	--	--	1																																			0,1	1		possibly_damaging(0.671)	p.A767T	NM_000342	NP_000333		deleterious(0.01)	0,1	B3AT_HUMAN	SLC4A1	HGNC	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	Q6LDU9_HUMAN,P78488_HUMAN,E2RVJ0_HUMAN,E2J824_HUMAN		17	2448	-		Breast(137;0.014)|Prostate(33;0.0181)	UPI00000375B8	767			Helical; (Potential).|Membrane (anion exchange).		SNV	SLC4A1,missense_variant,p.Ala767Thr,ENST00000262418,NM_000342.3;AC003102.1,upstream_gene_variant,,ENST00000399246,;AC003043.1,upstream_gene_variant,,ENST00000597382,;SLC4A1,downstream_gene_variant,,ENST00000497360,;	uc002igf.3	c.2299G>A	2455/4965	2	2			c.2299G>A						17	SNP	c.(2299-2301)GCT>ACT	22	22			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	solute carrier family 4, anion exchanger, member			42330498		0.637	ENSG00000004939	14422	g.chr17:42330498C>T	bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity							31.600767	KEEP	15	10	-1	85	63	15	10	-1	49.561029	85	63	0.146667	1	0	0	0	0	1	0	0	0	--	--		0	T				68	GBM-06-0747-TP	p.A767T	C	ACAAGCACAGCGACCAGGAGT	NM_000342	NP_000333	42330498	P02730	B3AT_HUMAN	0		BRCA - Breast invasive adenocarcinoma(366;0.115)	17	2448	-	T	T		Breast(137;0.014)|Prostate(33;0.0181)	Missense_Mutation	767			Helical; (Potential).|Membrane (anion exchange).			
SLC4A1	0	broad.mit.edu	GRCh37	17	42335421	42335421	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-3652-01	TCGA-12-3652-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262418.6:c.1215C>T	p.Val405=	p.V405=	ENST00000262418	NM_000342.3	405	gtC/gtT	0			1			A	V	uc002igf.3	protein_coding	YES	CCDS11481.1			1215/2736									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(1213-1215)GTC>GTT			Gene3D:1bzkA00,Pfam_domain:PF00955,Prints_domain:PR00165,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF12,TIGRFAM_domain:TIGR00834	solute carrier family 4, anion exchanger, member				ENSP00000262418		20-Nov	8.24E-06					1.50E-05			rs747517534,COSM3402932	20-Nov	.		ENST00000262418	Transcript	1		bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	ENSG00000004939	g.chr17:42335421G>A	11027			LOW								--	--	1																																		SLC4A1_uc002igg.3_Silent_p.V405V	0,1	1			p.V405V	NM_000342	NP_000333			0,1	B3AT_HUMAN	SLC4A1	HGNC	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	Q6LDU9_HUMAN,P78488_HUMAN,E2RVJ0_HUMAN,E2J824_HUMAN		11	1364	-		Breast(137;0.014)|Prostate(33;0.0181)	UPI00000375B8	405		Missing (in EL4).	Helical; (Potential).|Membrane (anion exchange).		SNV	SLC4A1,synonymous_variant,p.=,ENST00000262418,NM_000342.3;AC003043.1,intron_variant,,ENST00000597382,;SLC4A1,downstream_gene_variant,,ENST00000471005,;SLC4A1,non_coding_transcript_exon_variant,,ENST00000497360,;SLC4A1,downstream_gene_variant,,ENST00000498270,;	uc002igf.3	c.1215C>T	1371/4965	2	2			c.1215C>T						17	SNP	c.(1213-1215)GTC>GTT	27	27			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	solute carrier family 4, anion exchanger, member			42335421		0.597	ENSG00000004939	14422	g.chr17:42335421G>A	bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity							123.413044	KEEP	30	18	-1	34	45	30	18	-1	124.973657	34	45	0.376068	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC4A1_uc002igg.3_Silent_p.V405V	127	GBM-12-3652-TP	p.V405V	G	CGGCAGCCAGGACCTGGGGGC	NM_000342	NP_000333	42335421	P02730	B3AT_HUMAN	0		BRCA - Breast invasive adenocarcinoma(366;0.115)	11	1364	-	A	A		Breast(137;0.014)|Prostate(33;0.0181)	Silent	405		Missing (in EL4).	Helical; (Potential).|Membrane (anion exchange).			
SLC4A1	0	broad.mit.edu	GRCh37	17	42335476	42335476	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1837-01	TCGA-27-1837-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262418.6:c.1160G>A	p.Arg387Gln	p.R387Q	ENST00000262418	NM_000342.3	387	cGg/cAg	0	T:0	T:0	1	T:0		T	R/Q	uc002igf.3	protein_coding	YES	CCDS11481.1			1160/2736									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(1159-1161)CGG>CAG			Pfam_domain:PF00955,PROSITE_patterns:PS00219,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF12,TIGRFAM_domain:TIGR00834	solute carrier family 4, anion exchanger, member		T:0.001	T:0.0002	ENSP00000262418	T:0	20-Nov	4.94E-05			0.000462		3.00E-05			rs201280873,COSM3402933	20-Nov	common_variant		ENST00000262418	Transcript	1	T:0.0002	bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	ENSG00000004939	g.chr17:42335476C>T	11027			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=B3AT_HUMAN&rb=371&re=566&var=R387Q	NA	getma.org/?cm=var&var=hg19,17,42335476,C,T&fts=all	R387Q	--	--	1																																		SLC4A1_uc002igg.3_Missense_Mutation_p.R387Q	0,1	1		benign(0.033)	p.R387Q	NM_000342	NP_000333	T:0	tolerated(0.08)	0,1	B3AT_HUMAN	SLC4A1	HGNC	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	Q6LDU9_HUMAN,P78488_HUMAN,E2RVJ0_HUMAN,E2J824_HUMAN		11	1309	-		Breast(137;0.014)|Prostate(33;0.0181)	UPI00000375B8	387			Cytoplasmic.		SNV	SLC4A1,missense_variant,p.Arg387Gln,ENST00000262418,NM_000342.3;AC003043.1,intron_variant,,ENST00000597382,;SLC4A1,downstream_gene_variant,,ENST00000471005,;SLC4A1,non_coding_transcript_exon_variant,,ENST00000497360,;SLC4A1,downstream_gene_variant,,ENST00000498270,;	uc002igf.3	c.1160G>A	1316/4965	1	1			c.1160G>A						17	SNP	c.(1159-1161)CGG>CAG	8	8			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	solute carrier family 4, anion exchanger, member			42335476		0.587	ENSG00000004939	14422	g.chr17:42335476C>T	bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity							128.48358	KEEP	19	31	-1	42	49	19	31	-1	129.894762	42	49	0.385246	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC4A1_uc002igg.3_Missense_Mutation_p.R387Q	196	GBM-27-1837-TP	p.R387Q	C	GTAGCGGCGCCGGATATCACG	NM_000342	NP_000333	42335476	P02730	B3AT_HUMAN	0		BRCA - Breast invasive adenocarcinoma(366;0.115)	11	1309	-	T	T		Breast(137;0.014)|Prostate(33;0.0181)	Missense_Mutation	387			Cytoplasmic.			
SLC4A1	0	broad.mit.edu	GRCh37	17	42337808	42337808	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs55735880		TCGA-27-2524-01	TCGA-27-2524-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262418.6:c.449G>A	p.Arg150Gln	p.R150Q	ENST00000262418	NM_000342.3	150	cGa/cAa	0			1			T	R/Q	uc002igf.3	protein_coding	YES	CCDS11481.1			449/2736									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(448-450)CGA>CAA			Gene3D:1hynR00,Pfam_domain:PF07565,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF12,Superfamily_domains:SSF55804,TIGRFAM_domain:TIGR00834	solute carrier family 4, anion exchanger, member				ENSP00000262418		20-Jun	3.29E-05				0.000177	4.86E-05			rs761306530,COSM3402934	20-Jun	.		ENST00000262418	Transcript	1		bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	ENSG00000004939	g.chr17:42337808C>T	11027			MODERATE		2.335	medium	getma.org/?cm=msa&ty=f&p=B3AT_HUMAN&rb=86&re=329&var=R150Q	getma.org/pdb.php?prot=B3AT_HUMAN&from=86&to=329&var=R150Q	getma.org/?cm=var&var=hg19,17,42337808,C,T&fts=all	R150Q	--	--	1																																		SLC4A1_uc002igg.3_Missense_Mutation_p.R150Q	0,1	1		possibly_damaging(0.643)	p.R150Q	NM_000342	NP_000333		tolerated(0.1)	0,1	B3AT_HUMAN	SLC4A1	HGNC	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	Q6LDU9_HUMAN,P78488_HUMAN,E2RVJ0_HUMAN,E2J824_HUMAN		6	598	-		Breast(137;0.014)|Prostate(33;0.0181)	UPI00000375B8	150			Cytoplasmic.		SNV	SLC4A1,missense_variant,p.Arg150Gln,ENST00000262418,NM_000342.3;AC003043.1,intron_variant,,ENST00000597382,;SLC4A1,non_coding_transcript_exon_variant,,ENST00000471005,;SLC4A1,non_coding_transcript_exon_variant,,ENST00000497360,;SLC4A1,downstream_gene_variant,,ENST00000498270,;	uc002igf.3	c.449G>A	605/4965	1	1			c.449G>A						17	SNP	c.(448-450)CGA>CAA	13	13			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	solute carrier family 4, anion exchanger, member			42337808		0.607	ENSG00000004939	14422	g.chr17:42337808C>T	bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity							27.105571	KEEP	9	5	-1	14	18	9	5	-1	29.260412	14	18	0.261905	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC4A1_uc002igg.3_Missense_Mutation_p.R150Q	202	GBM-27-2524-TP	p.R150Q	C	CAGCTCCTCTCGGTCCTGAGG	NM_000342	NP_000333	42337808	P02730	B3AT_HUMAN	0		BRCA - Breast invasive adenocarcinoma(366;0.115)	6	598	-	T	T		Breast(137;0.014)|Prostate(33;0.0181)	Missense_Mutation	150			Cytoplasmic.			
SLC4A1	0	broad.mit.edu	GRCh37	17	42330723	42330723	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-41-4097-01	TCGA-41-4097-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262418.6:c.2074C>G	p.Pro692Ala	p.P692A	ENST00000262418	NM_000342.3	692	Cct/Gct	0			1			C	P/A	uc002igf.3	protein_coding	YES	CCDS11481.1			2074/2736									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(2074-2076)CCT>GCT			Pfam_domain:PF00955,Prints_domain:PR01187,Prints_domain:PR01231,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF12,TIGRFAM_domain:TIGR00834	solute carrier family 4, anion exchanger, member				ENSP00000262418		17/20									COSM3402931	17/20	.		ENST00000262418	Transcript	1		bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	ENSG00000004939	g.chr17:42330723G>C	11027			MODERATE		2.34	medium	getma.org/?cm=msa&ty=f&p=B3AT_HUMAN&rb=556&re=839&var=P692A	NA	getma.org/?cm=var&var=hg19,17,42330723,G,C&fts=all	P692A	--	--	1																																			1	1		probably_damaging(0.951)	p.P692A	NM_000342	NP_000333		deleterious(0.02)	1	B3AT_HUMAN	SLC4A1	HGNC	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	Q6LDU9_HUMAN,P78488_HUMAN,E2RVJ0_HUMAN,E2J824_HUMAN		17	2223	-		Breast(137;0.014)|Prostate(33;0.0181)	UPI00000375B8	692			Membrane (anion exchange).		SNV	SLC4A1,missense_variant,p.Pro692Ala,ENST00000262418,NM_000342.3;AC003102.1,upstream_gene_variant,,ENST00000399246,;AC003043.1,upstream_gene_variant,,ENST00000597382,;SLC4A1,downstream_gene_variant,,ENST00000497360,;	uc002igf.3	c.2074C>G	2230/4965	3	3			c.2074C>G						17	SNP	c.(2074-2076)CCT>GCT	14	14			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	solute carrier family 4, anion exchanger, member			42330723		0.612	ENSG00000004939	14422	g.chr17:42330723G>C	bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity							17.491485	KEEP	7	7	-1	42	43	7	7	-1	28.725607	42	43	0.123457	1	0	0	0	0	1	0	0	0	--	--		0	C				257	GBM-41-4097-TP	p.P692A	G	TTGCGCTCAGGTTTGCTGACA	NM_000342	NP_000333	42330723	P02730	B3AT_HUMAN	0		BRCA - Breast invasive adenocarcinoma(366;0.115)	17	2223	-	C	C		Breast(137;0.014)|Prostate(33;0.0181)	Missense_Mutation	692			Membrane (anion exchange).			
SLC4A10	57282	broad.mit.edu	GRCh37	2	162804208	162804208	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0219-01	TCGA-06-0219-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000446997.1:c.2236T>C	p.Phe746Leu	p.F746L	ENST00000446997	NM_001178015.1	746	Ttc/Ctc	0			1			C	F/L	uc002ubx.3	protein_coding	YES	CCDS54411.1			2236/3357									ovary(2)|lung(2)|pancreas(1)	5	c.(2236-2238)TTC>CTC			hmmpanther:PTHR11453:SF32,hmmpanther:PTHR11453,TIGRFAM_domain:TIGR00834,Pfam_domain:PF00955	solute carrier family 4, sodium bicarbonate				ENSP00000393066		17/27									COSM2150958,COSM2150957,COSM2150956	17/27	.		ENST00000446997	Transcript			bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	ENSG00000144290	g.chr2:162804208T>C	13811			MODERATE		2.385	medium	getma.org/?cm=msa&ty=f&p=S4A10_HUMAN&rb=475&re=989&var=F746L	NA	getma.org/?cm=var&var=hg19,2,162804208,T,C&fts=all	F746L	--	--	1																																		SLC4A10_uc002uby.3_Missense_Mutation_p.F716L|SLC4A10_uc010zcs.1_Missense_Mutation_p.F727L	1,1,1	1		probably_damaging(0.994)	p.F746L	NM_022058	NP_071341		deleterious(0.01)	1,1,1	S4A10_HUMAN	SLC4A10	HGNC	Q6U841	S4A10_HUMAN					17	2420	+			UPI00001D4707	746			Cytoplasmic (Potential).		SNV	SLC4A10,missense_variant,p.Phe727Leu,ENST00000375514,NM_001178016.1;SLC4A10,missense_variant,p.Phe716Leu,ENST00000415876,NM_022058.3;SLC4A10,missense_variant,p.Phe746Leu,ENST00000446997,NM_001178015.1;SLC4A10,missense_variant,p.Phe716Leu,ENST00000272716,;SLC4A10,missense_variant,p.Phe746Leu,ENST00000421911,;SLC4A10,3_prime_UTR_variant,,ENST00000446228,;	uc002ubx.3	c.2236T>C	2329/5551	4	4			c.2236T>C						2	SNP	c.(2236-2238)TTC>CTC	48	48			ovary(2)|lung(2)|pancreas(1)	5	Broad	solute carrier family 4, sodium bicarbonate			162804208		0.383	ENSG00000144290	14423	g.chr2:162804208T>C	bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity							305.474635	KEEP	48	63	-1	103	105	48	63	-1	311.37765	103	105	0.340909	1	0	0	0	0	1	0	0	0	--	--		0	C			SLC4A10_uc002uby.3_Missense_Mutation_p.F716L|SLC4A10_uc010zcs.1_Missense_Mutation_p.F727L	52	GBM-06-0219-TP	p.F746L	T	CCTGAAGCAGTTCAAGACTAG	NM_022058	NP_071341	162804208	Q6U841	S4A10_HUMAN	0			17	2420	+	C	C			Missense_Mutation	746			Cytoplasmic (Potential).			
SLC4A10	0	broad.mit.edu	GRCh37	2	162813661	162813661	+	stop_gained	Nonsense_Mutation	SNP	A	A	T			TCGA-12-3649-01	TCGA-12-3649-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000446997.1:c.2704A>T	p.Lys902Ter	p.K902*	ENST00000446997	NM_001178015.1	902	Aaa/Taa	0			1			T	K/*	uc002ubx.3	protein_coding	YES	CCDS54411.1			2704/3357									ovary(2)|lung(2)|pancreas(1)	5	c.(2704-2706)AAA>TAA			hmmpanther:PTHR11453:SF32,hmmpanther:PTHR11453,TIGRFAM_domain:TIGR00834,Pfam_domain:PF00955	solute carrier family 4, sodium bicarbonate				ENSP00000393066		20/27									COSM3406970,COSM3406969,COSM3406968	20/27	.		ENST00000446997	Transcript			bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	ENSG00000144290	g.chr2:162813661A>T	13811			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,162813661,A,T&fts=all	K902*	--	--	1																																		SLC4A10_uc002uby.3_Nonsense_Mutation_p.K872*|SLC4A10_uc010zcs.1_Nonsense_Mutation_p.K883*	1,1,1	1			p.K902*	NM_022058	NP_071341			1,1,1	S4A10_HUMAN	SLC4A10	HGNC	Q6U841	S4A10_HUMAN					20	2888	+			UPI00001D4707	902			Extracellular (Potential).		SNV	SLC4A10,stop_gained,p.Lys883Ter,ENST00000375514,NM_001178016.1;SLC4A10,stop_gained,p.Lys872Ter,ENST00000415876,NM_022058.3;SLC4A10,stop_gained,p.Lys902Ter,ENST00000446997,NM_001178015.1;SLC4A10,stop_gained,p.Lys872Ter,ENST00000272716,;SLC4A10,stop_gained,p.Lys902Ter,ENST00000421911,;SLC4A10,3_prime_UTR_variant,,ENST00000446228,;	uc002ubx.3	c.2704A>T	2797/5551	5	1			c.2704A>T						2	SNP	c.(2704-2706)AAA>TAA	9	9			ovary(2)|lung(2)|pancreas(1)	5	Broad	solute carrier family 4, sodium bicarbonate			162813661		0.448	ENSG00000144290	14423	g.chr2:162813661A>T	bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity							59.654181	KEEP	11	7	-1	6	7	11	7	-1	59.830026	6	7	0.580645	1	0	0	0	0	0	1	0	0	--	--		0	T			SLC4A10_uc002uby.3_Nonsense_Mutation_p.K872*|SLC4A10_uc010zcs.1_Nonsense_Mutation_p.K883*	125	GBM-12-3649-TP	p.K902*	A	AGAACAACCCAAATTTCTCGG	NM_022058	NP_071341	162813661	Q6U841	S4A10_HUMAN	0			20	2888	+	T	T			Nonsense_Mutation	902			Extracellular (Potential).			
SLC4A10	0	broad.mit.edu	GRCh37	2	162815003	162815003	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01	TCGA-28-2513-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000446997.1:c.2800C>T	p.Pro934Ser	p.P934S	ENST00000446997	NM_001178015.1	934	Ccc/Tcc	0			1			T	P/S	uc002ubx.3	protein_coding	YES	CCDS54411.1			2800/3357									ovary(2)|lung(2)|pancreas(1)	5	c.(2800-2802)CCC>TCC			hmmpanther:PTHR11453:SF32,hmmpanther:PTHR11453,TIGRFAM_domain:TIGR00834,Pfam_domain:PF00955	solute carrier family 4, sodium bicarbonate				ENSP00000393066		21/27									COSM1008312,COSM3406971,COSM1590782	21/27	.		ENST00000446997	Transcript			bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	ENSG00000144290	g.chr2:162815003C>T	13811			MODERATE		3.97	high	getma.org/?cm=msa&ty=f&p=S4A10_HUMAN&rb=475&re=989&var=P934S	NA	getma.org/?cm=var&var=hg19,2,162815003,C,T&fts=all	P934S	--	--	1																																		SLC4A10_uc002uby.3_Missense_Mutation_p.P904S|SLC4A10_uc010zcs.1_Missense_Mutation_p.P915S	1,1,1	1		probably_damaging(1)	p.P934S	NM_022058	NP_071341		deleterious(0.01)	1,1,1	S4A10_HUMAN	SLC4A10	HGNC	Q6U841	S4A10_HUMAN					21	2984	+			UPI00001D4707	934			Cytoplasmic (Potential).		SNV	SLC4A10,missense_variant,p.Pro915Ser,ENST00000375514,NM_001178016.1;SLC4A10,missense_variant,p.Pro904Ser,ENST00000415876,NM_022058.3;SLC4A10,missense_variant,p.Pro934Ser,ENST00000446997,NM_001178015.1;SLC4A10,missense_variant,p.Pro904Ser,ENST00000272716,;SLC4A10,missense_variant,p.Pro934Ser,ENST00000421911,;SLC4A10,3_prime_UTR_variant,,ENST00000446228,;	uc002ubx.3	c.2800C>T	2893/5551	2	2			c.2800C>T						2	SNP	c.(2800-2802)CCC>TCC	30	30			ovary(2)|lung(2)|pancreas(1)	5	Broad	solute carrier family 4, sodium bicarbonate			162815003		0.343	ENSG00000144290	14423	g.chr2:162815003C>T	bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity							5.793539	KEEP	3	6	-1	32	39	3	6	-1	16.45622	32	39	0.102941	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC4A10_uc002uby.3_Missense_Mutation_p.P904S|SLC4A10_uc010zcs.1_Missense_Mutation_p.P915S	213	GBM-28-2513-TP	p.P934S	C	ACAGTTTATTCCCATGCCAGT	NM_022058	NP_071341	162815003	Q6U841	S4A10_HUMAN	0			21	2984	+	T	T			Missense_Mutation	934			Cytoplasmic (Potential).			
SLC4A2	6522	broad.mit.edu	GRCh37	7	150771186	150771186	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000485713.1:c.2596G>A	p.Gly866Ser	p.G866S	ENST00000485713	NM_001199692.1	866	Ggt/Agt	0		A:0	1	A:0		A	G/S	uc003wit.3	protein_coding		CCDS5917.1			2596/3726										0	c.(2596-2598)GGT>AGT			Pfam_domain:PF00955,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF14,TIGRFAM_domain:TIGR00834	solute carrier family 4, anion exchanger, member		A:0		ENSP00000405600	A:0	17/23	0.000124							0.000943	rs573998641,COSM3411807	17/23	common_variant		ENST00000413384	Transcript		A:0.0002	bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	ENSG00000164889	g.chr7:150771186G>A	11028			MODERATE		-1.39	neutral	getma.org/?cm=msa&ty=f&p=B3A2_HUMAN&rb=674&re=1169&var=G866S	NA	getma.org/?cm=var&var=hg19,7,150771186,G,A&fts=all	G866S	--	--	1																																		SLC4A2_uc011kve.1_Missense_Mutation_p.G857S|SLC4A2_uc003wiu.3_Missense_Mutation_p.G852S|SLC4A2_uc003wiv.3_Missense_Mutation_p.G60S	0,1			benign(0.013)	p.G866S	NM_003040	NP_003031	A:0.001	tolerated(0.98)	0,1	B3A2_HUMAN	SLC4A2	HGNC	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Q59GF1_HUMAN,C9JVC2_HUMAN,C9J9M9_HUMAN,C9J722_HUMAN,C9J459_HUMAN,C9J035_HUMAN		17	2852	+			UPI000013EFE9	866			Membrane (anion exchange).|Extracellular (Potential).		SNV	SLC4A2,missense_variant,p.Gly866Ser,ENST00000485713,NM_001199692.1;SLC4A2,missense_variant,p.Gly852Ser,ENST00000461735,NM_001199694.1;SLC4A2,missense_variant,p.Gly866Ser,ENST00000413384,NM_003040.3;SLC4A2,missense_variant,p.Gly784Ser,ENST00000310317,;SLC4A2,missense_variant,p.Gly857Ser,ENST00000392826,NM_001199693.1;FASTK,downstream_gene_variant,,ENST00000540185,;FASTK,downstream_gene_variant,,ENST00000297532,NM_006712.4;FASTK,downstream_gene_variant,,ENST00000482571,NM_001258461.1;FASTK,downstream_gene_variant,,ENST00000353841,NM_033015.3;RP11-148K1.12,downstream_gene_variant,,ENST00000485974,;FASTK,downstream_gene_variant,,ENST00000489884,;FASTK,downstream_gene_variant,,ENST00000478477,;FASTK,downstream_gene_variant,,ENST00000461979,;SLC4A2,downstream_gene_variant,,ENST00000482697,;SLC4A2,non_coding_transcript_exon_variant,,ENST00000472204,;SLC4A2,non_coding_transcript_exon_variant,,ENST00000460010,;FASTK,downstream_gene_variant,,ENST00000467237,;FASTK,downstream_gene_variant,,ENST00000469237,;FASTK,downstream_gene_variant,,ENST00000466855,;FASTK,downstream_gene_variant,,ENST00000482806,;FASTK,downstream_gene_variant,,ENST00000460980,;FASTK,downstream_gene_variant,,ENST00000483953,;SLC4A2,downstream_gene_variant,,ENST00000480107,;FASTK,downstream_gene_variant,,ENST00000478883,;SLC4A2,downstream_gene_variant,,ENST00000493040,;SLC4A2,downstream_gene_variant,,ENST00000494298,;SLC4A2,downstream_gene_variant,,ENST00000469355,;FASTK,downstream_gene_variant,,ENST00000465272,;FASTK,downstream_gene_variant,,ENST00000459800,;SLC4A2,upstream_gene_variant,,ENST00000469467,;	uc003wit.3	c.2596G>A	2852/4142	2	2			c.2596G>A						7	SNP	c.(2596-2598)GGT>AGT	32	32				0	Broad	solute carrier family 4, anion exchanger, member			150771186		0.677	ENSG00000164889	14426	g.chr7:150771186G>A	bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			2			2	214.146384	KEEP	32	40	-1	32	59	32	40	-1	214.608798	32	59	0.441558	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC4A2_uc011kve.1_Missense_Mutation_p.G857S|SLC4A2_uc003wiu.3_Missense_Mutation_p.G852S|SLC4A2_uc003wiv.3_Missense_Mutation_p.G60S	102	GBM-06-5858-TP	p.G866S	G	GGTGGACGGCGGTGAGAACAT	NM_003040	NP_003031	150771186	P04920	B3A2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	17	2852	+	A	A			Missense_Mutation	866			Membrane (anion exchange).|Extracellular (Potential).			
SLC4A2	0	broad.mit.edu	GRCh37	7	150759094	150759094	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-5136-01	TCGA-26-5136-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000413384.2:c.20G>A	p.Arg7His	p.R7H	ENST00000413384	NM_003040.3	7	cGc/cAc	0			1			A	R/H	uc003wit.3	protein_coding		CCDS5917.1			20/3726										0	c.(19-21)CGC>CAC				solute carrier family 4, anion exchanger, member				ENSP00000405600		23-Feb	8.26E-06							6.73E-05	rs747989506,COSM2157137	23-Feb	.		ENST00000413384	Transcript			bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	ENSG00000164889	g.chr7:150759094G>A	11028			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=B3A2_HUMAN&rb=1&re=200&var=R7H	NA	getma.org/?cm=var&var=hg19,7,150759094,G,A&fts=all	R7H	--	--	1																																		SLC4A2_uc011kve.1_5'Flank|SLC4A2_uc003wiu.3_5'Flank	0,1			possibly_damaging(0.84)	p.R7H	NM_003040	NP_003031		tolerated_low_confidence(0.09)	0,1	B3A2_HUMAN	SLC4A2	HGNC	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Q59GF1_HUMAN,C9JVC2_HUMAN,C9J9M9_HUMAN,C9J722_HUMAN,C9J459_HUMAN,C9J035_HUMAN		2	276	+			UPI000013EFE9	7	R -> L (in Ref. 1; CAA44067).		Cytoplasmic (Potential).|Pro-rich.		SNV	SLC4A2,missense_variant,p.Arg7His,ENST00000485713,NM_001199692.1;SLC4A2,missense_variant,p.Arg7His,ENST00000413384,NM_003040.3;SLC4A2,missense_variant,p.Arg7His,ENST00000310317,;SLC4A2,missense_variant,p.Arg7His,ENST00000463414,;SLC4A2,missense_variant,p.Arg7His,ENST00000490898,;SLC4A2,missense_variant,p.Arg7His,ENST00000488420,;SLC4A2,missense_variant,p.Arg7His,ENST00000483786,;SLC4A2,missense_variant,p.Arg7His,ENST00000482950,;SLC4A2,upstream_gene_variant,,ENST00000461735,NM_001199694.1;SLC4A2,upstream_gene_variant,,ENST00000392826,NM_001199693.1;CDK5,upstream_gene_variant,,ENST00000485972,NM_004935.3;CDK5,upstream_gene_variant,,ENST00000297518,NM_001164410.1;SLC4A2,downstream_gene_variant,,ENST00000466368,;SLC4A2,non_coding_transcript_exon_variant,,ENST00000494125,;CDK5,upstream_gene_variant,,ENST00000487703,;CDK5,upstream_gene_variant,,ENST00000469108,;	uc003wit.3	c.20G>A	276/4142	2	2			c.20G>A						7	SNP	c.(19-21)CGC>CAC	26	26				0	Broad	solute carrier family 4, anion exchanger, member			150759094		0.667	ENSG00000164889	14426	g.chr7:150759094G>A	bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			2			2	38.738749	KEEP	13	8	-1	28	32	13	8	-1	41.642323	28	32	0.276923	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC4A2_uc011kve.1_5'Flank|SLC4A2_uc003wiu.3_5'Flank	185	GBM-26-5136-TP	p.R7H	G	GCCCCTCGGCGCCCCGCCAAG	NM_003040	NP_003031	150759094	P04920	B3A2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	276	+	A	A			Missense_Mutation	7	R -> L (in Ref. 1; CAA44067).		Cytoplasmic (Potential).|Pro-rich.			
SLC4A4	8671	broad.mit.edu	GRCh37	4	72319251	72319251	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0221-01	TCGA-06-0221-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000425175.1:c.1362G>A	p.Ala454=	p.A454=	ENST00000425175	NM_001134742.1	454	gcG/gcA	0			1			A	A	uc003hfy.2	protein_coding		CCDS43236.1			1362/3240									ovary(3)|kidney(1)|skin(1)	5	c.(1360-1362)GCG>GCA			hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF10,Gene3D:1bzkA00,TIGRFAM_domain:TIGR00834,Pfam_domain:PF00955	solute carrier family 4, sodium bicarbonate				ENSP00000264485		26-Dec	2.47E-05					4.50E-05			rs754788772,COSM1057183,COSM1057182	26-Dec	.		ENST00000264485	Transcript	1			basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	ENSG00000080493	g.chr4:72319251G>A	11030			LOW								--	--	1																																		SLC4A4_uc010iic.2_Silent_p.A454A|SLC4A4_uc010iib.2_Silent_p.A454A|SLC4A4_uc003hfz.2_Silent_p.A454A|SLC4A4_uc003hgc.3_Silent_p.A410A|SLC4A4_uc010iid.2_Intron|SLC4A4_uc003hga.2_Silent_p.A332A|SLC4A4_uc003hgb.3_Silent_p.A410A	0,1,1				p.A454A	NM_001098484	NP_001091954			0,1,1	S4A4_HUMAN	SLC4A4	HGNC	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)				12	1479	+			UPI000006DF04	454			Cytoplasmic (Potential).		SNV	SLC4A4,synonymous_variant,p.=,ENST00000340595,NM_003759.3;SLC4A4,synonymous_variant,p.=,ENST00000425175,NM_001134742.1;SLC4A4,synonymous_variant,p.=,ENST00000264485,NM_001098484.2;SLC4A4,synonymous_variant,p.=,ENST00000351898,;SLC4A4,synonymous_variant,p.=,ENST00000512686,;SLC4A4,non_coding_transcript_exon_variant,,ENST00000514331,;	uc003hfy.2	c.1362G>A	1479/5323	2	2			c.1362G>A						4	SNP	c.(1360-1362)GCG>GCA	24	24			ovary(3)|kidney(1)|skin(1)	5	Broad	solute carrier family 4, sodium bicarbonate			72319251		0.343	ENSG00000080493	14428	g.chr4:72319251G>A		basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity							-27.58487	KEEP	15	11	-1	194	193	15	11	-1	44.065607	194	193	0.05949	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC4A4_uc010iic.2_Silent_p.A454A|SLC4A4_uc010iib.2_Silent_p.A454A|SLC4A4_uc003hfz.2_Silent_p.A454A|SLC4A4_uc003hgc.3_Silent_p.A410A|SLC4A4_uc010iid.2_Intron|SLC4A4_uc003hga.2_Silent_p.A332A|SLC4A4_uc003hgb.3_Silent_p.A410A	53	GBM-06-0221-TP	p.A454A	G	AGAGGAAAGCGCCATTTTTTG	NM_001098484	NP_001091954	72319251	Q9Y6R1	S4A4_HUMAN	0	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		12	1479	+	A	A			Silent	454			Cytoplasmic (Potential).			
SLC4A4	8671	broad.mit.edu	GRCh37	4	72338689	72338689	+	splice_donor_variant	Splice_Site	SNP	T	T	C			TCGA-06-0644-01	TCGA-06-0644-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000425175.1:c.1903+2T>C		p.X635_splice	ENST00000425175	NM_001134742.1	635		0			1			C		uc003hfy.2	protein_coding		CCDS43236.1			1903/3240									ovary(3)|kidney(1)|skin(1)	5	c.e14+2				solute carrier family 4, sodium bicarbonate				ENSP00000264485											COSM3748275,COSM3748274		.		ENST00000264485	Transcript	1			basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	ENSG00000080493	g.chr4:72338689T>C	11030			HIGH	14/25							--	--	1																																		SLC4A4_uc010iic.2_Splice_Site_p.A635_splice|SLC4A4_uc010iib.2_Splice_Site_p.A635_splice|SLC4A4_uc003hfz.2_Splice_Site_p.A635_splice|SLC4A4_uc003hgc.3_Splice_Site_p.A591_splice|SLC4A4_uc010iid.2_Intron|SLC4A4_uc003hga.2_Silent_p.G513G|SLC4A4_uc003hgb.3_Silent_p.G591G	1,1				p.A635_splice	NM_001098484	NP_001091954			1,1	S4A4_HUMAN	SLC4A4	HGNC	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)				14	2020	+			UPI000006DF04						SNV	SLC4A4,splice_donor_variant,,ENST00000340595,NM_003759.3;SLC4A4,splice_donor_variant,,ENST00000425175,NM_001134742.1;SLC4A4,splice_donor_variant,,ENST00000264485,NM_001098484.2;SLC4A4,splice_donor_variant,,ENST00000351898,;SLC4A4,synonymous_variant,p.=,ENST00000512686,;SLC4A4,non_coding_transcript_exon_variant,,ENST00000514331,;	uc003hfy.2	c.1903_splice	-/5323	5	4			c.1903_splice						4	SNP	c.e14+2	47	47			ovary(3)|kidney(1)|skin(1)	5	Broad	solute carrier family 4, sodium bicarbonate			72338689		0.463	ENSG00000080493	14428	g.chr4:72338689T>C		basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity							-29.807821	KEEP	5	6	-1	117	119	5	6	-1	18.118437	117	119	0.042254	1	0	0	0	0	0	0	0	1	--	--		0	C			SLC4A4_uc010iic.2_Splice_Site_p.A635_splice|SLC4A4_uc010iib.2_Splice_Site_p.A635_splice|SLC4A4_uc003hfz.2_Splice_Site_p.A635_splice|SLC4A4_uc003hgc.3_Splice_Site_p.A591_splice|SLC4A4_uc010iid.2_Intron|SLC4A4_uc003hga.2_Silent_p.G513G|SLC4A4_uc003hgb.3_Silent_p.G591G	58	GBM-06-0644-TP	p.A635_splice	T	CTGACCCAGGTGAGGGCATTA	NM_001098484	NP_001091954	72338689	Q9Y6R1	S4A4_HUMAN	0	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		14	2020	+	C	C			Splice_Site							
SLC4A4	8671	broad.mit.edu	GRCh37	4	72316924	72316924	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01	TCGA-06-2562-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000425175.1:c.1228G>A	p.Gly410Arg	p.G410R	ENST00000425175	NM_001134742.1	410	Gga/Aga	0			1			A	G/R	uc003hfy.2	protein_coding		CCDS43236.1			1228/3240									ovary(3)|kidney(1)|skin(1)	5	c.(1228-1230)GGA>AGA			hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF10,TIGRFAM_domain:TIGR00834	solute carrier family 4, sodium bicarbonate				ENSP00000264485		26-Nov									COSM2152773,COSM2152772	26-Nov	.		ENST00000264485	Transcript	1			basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	ENSG00000080493	g.chr4:72316924G>A	11030			MODERATE		2.33	medium	getma.org/?cm=msa&ty=f&p=S4A4_HUMAN&rb=389&re=434&var=G410R	NA	getma.org/?cm=var&var=hg19,4,72316924,G,A&fts=all	G410R	--	--	1																																		SLC4A4_uc010iic.2_Missense_Mutation_p.G410R|SLC4A4_uc010iib.2_Missense_Mutation_p.G410R|SLC4A4_uc003hfz.2_Missense_Mutation_p.G410R|SLC4A4_uc003hgc.3_Missense_Mutation_p.G366R|SLC4A4_uc010iid.2_5'UTR|SLC4A4_uc003hga.2_Missense_Mutation_p.G288R|SLC4A4_uc003hgb.3_Missense_Mutation_p.G366R	1,1			possibly_damaging(0.628)	p.G410R	NM_001098484	NP_001091954		tolerated(0.48)	1,1	S4A4_HUMAN	SLC4A4	HGNC	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)				11	1345	+			UPI000006DF04	410			Cytoplasmic (Potential).		SNV	SLC4A4,missense_variant,p.Gly366Arg,ENST00000340595,NM_003759.3;SLC4A4,missense_variant,p.Gly410Arg,ENST00000425175,NM_001134742.1;SLC4A4,missense_variant,p.Gly410Arg,ENST00000264485,NM_001098484.2;SLC4A4,missense_variant,p.Gly410Arg,ENST00000351898,;SLC4A4,missense_variant,p.Gly366Arg,ENST00000512686,;SLC4A4,non_coding_transcript_exon_variant,,ENST00000514331,;	uc003hfy.2	c.1228G>A	1345/5323	2	2			c.1228G>A						4	SNP	c.(1228-1230)GGA>AGA	33	33			ovary(3)|kidney(1)|skin(1)	5	Broad	solute carrier family 4, sodium bicarbonate			72316924		0.443	ENSG00000080493	14428	g.chr4:72316924G>A		basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity							116.07076	KEEP	22	24	-1	43	52	22	24	-1	120.026189	43	52	0.318519	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC4A4_uc010iic.2_Missense_Mutation_p.G410R|SLC4A4_uc010iib.2_Missense_Mutation_p.G410R|SLC4A4_uc003hfz.2_Missense_Mutation_p.G410R|SLC4A4_uc003hgc.3_Missense_Mutation_p.G366R|SLC4A4_uc010iid.2_5'UTR|SLC4A4_uc003hga.2_Missense_Mutation_p.G288R|SLC4A4_uc003hgb.3_Missense_Mutation_p.G366R	85	GBM-06-2562-TP	p.G410R	G	GTACTCAGGTGGAGAGAATGT	NM_001098484	NP_001091954	72316924	Q9Y6R1	S4A4_HUMAN	0	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		11	1345	+	A	A			Missense_Mutation	410			Cytoplasmic (Potential).			
SLC4A4	8671	broad.mit.edu	GRCh37	4	72399971	72399971	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs150967020		TCGA-06-5413-01	TCGA-06-5413-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000425175.1:c.2308G>A	p.Val770Ile	p.V770I	ENST00000425175	NM_001134742.1	770	Gtt/Att	0	T:0		1			A	V/I	uc003hfy.2	protein_coding		CCDS43236.1			2308/3240									ovary(3)|kidney(1)|skin(1)	5	c.(2308-2310)GTT>ATT			hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF10,TIGRFAM_domain:TIGR00834,Pfam_domain:PF00955	solute carrier family 4, sodium bicarbonate			T:0.0001	ENSP00000264485		18/26	1.65E-05					3.01E-05			rs150967020,COSM420535,COSM420534	18/26	.		ENST00000264485	Transcript	1			basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	ENSG00000080493	g.chr4:72399971G>A	11030			MODERATE		0.53	neutral	getma.org/?cm=msa&ty=f&p=S4A4_HUMAN&rb=435&re=956&var=V770I	NA	getma.org/?cm=var&var=hg19,4,72399971,G,A&fts=all	V770I	--	--	1																																		SLC4A4_uc010iic.2_Missense_Mutation_p.V770I|SLC4A4_uc010iib.2_Missense_Mutation_p.V770I|SLC4A4_uc003hfz.2_Missense_Mutation_p.V770I|SLC4A4_uc003hgc.3_Missense_Mutation_p.V726I|SLC4A4_uc010iid.2_5'UTR	0,1,1			benign(0.03)	p.V770I	NM_001098484	NP_001091954		tolerated(0.8)	0,1,1	S4A4_HUMAN	SLC4A4	HGNC	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)				18	2425	+			UPI000006DF04	770			Interaction with CA4.|Extracellular (Potential).		SNV	SLC4A4,missense_variant,p.Val726Ile,ENST00000340595,NM_003759.3;SLC4A4,missense_variant,p.Val770Ile,ENST00000425175,NM_001134742.1;SLC4A4,missense_variant,p.Val770Ile,ENST00000264485,NM_001098484.2;SLC4A4,missense_variant,p.Val770Ile,ENST00000351898,;	uc003hfy.2	c.2308G>A	2425/5323	1	1			c.2308G>A						4	SNP	c.(2308-2310)GTT>ATT	63	63			ovary(3)|kidney(1)|skin(1)	5	Broad	solute carrier family 4, sodium bicarbonate			72399971		0.423	ENSG00000080493	14428	g.chr4:72399971G>A		basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity							5.512086	KEEP	0	3	-1	9	12	0	3	-1	7.86056	9	12	0.15	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC4A4_uc010iic.2_Missense_Mutation_p.V770I|SLC4A4_uc010iib.2_Missense_Mutation_p.V770I|SLC4A4_uc003hfz.2_Missense_Mutation_p.V770I|SLC4A4_uc003hgc.3_Missense_Mutation_p.V726I|SLC4A4_uc010iid.2_5'UTR	96	GBM-06-5413-TP	p.V770I	G	AGGTTGGTTCGTTCCACCGTT	NM_001098484	NP_001091954	72399971	Q9Y6R1	S4A4_HUMAN	0	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		18	2425	+	A	A			Missense_Mutation	770			Interaction with CA4.|Extracellular (Potential).			
SLC4A5	0	broad.mit.edu	GRCh37	2	74462257	74462257	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-27-1830-01	TCGA-27-1830-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000346834.4:c.2404C>G	p.Pro802Ala	p.P802A	ENST00000346834		802	Ccc/Gcc	0			1			C	P/A	uc002sko.1	protein_coding					2404/3123									ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9	c.(2404-2406)CCC>GCC			hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF20,TIGRFAM_domain:TIGR00834,Pfam_domain:PF00955	sodium bicarbonate transporter 4 isoform a				ENSP00000251768		22/29									COSM3407979,COSM3407978	22/29	.		ENST00000346834	Transcript				apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	ENSG00000188687	g.chr2:74462257G>C	18168			MODERATE		2.775	medium	getma.org/?cm=msa&ty=f&p=S4A5_HUMAN&rb=487&re=1023&var=P802A	NA	getma.org/?cm=var&var=hg19,2,74462257,G,C&fts=all	P802A	--	--	1																																		SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.P802A|SLC4A5_uc010ffc.1_Missense_Mutation_p.P802A|SLC4A5_uc002skp.1_Intron|SLC4A5_uc002sks.1_Intron	1,1			possibly_damaging(0.664)	p.P802A	NM_021196	NP_067019		deleterious(0)	1,1	S4A5_HUMAN	SLC4A5	HGNC	Q9BY07	S4A5_HUMAN			Q9UDR3_HUMAN,Q53QY5_HUMAN,C9JW32_HUMAN,C9JU12_HUMAN,C9JNL6_HUMAN		17	2406	-			UPI000007386D	802			Cytoplasmic (Potential).		SNV	SLC4A5,missense_variant,p.Pro802Ala,ENST00000394019,NM_133478.2;SLC4A5,missense_variant,p.Pro802Ala,ENST00000423644,;SLC4A5,missense_variant,p.Pro802Ala,ENST00000346834,;SLC4A5,missense_variant,p.Pro802Ala,ENST00000377634,;SLC4A5,missense_variant,p.Pro802Ala,ENST00000357822,NM_021196.3;SLC4A5,missense_variant,p.Pro802Ala,ENST00000377632,;SLC4A5,intron_variant,,ENST00000359484,;SLC4A5,intron_variant,,ENST00000358683,;SLC4A5,intron_variant,,ENST00000425249,;SLC4A5,non_coding_transcript_exon_variant,,ENST00000483195,;RP11-287D1.3,3_prime_UTR_variant,,ENST00000451608,;	uc002sko.1	c.2404C>G	2802/6104	3	3			c.2404C>G						2	SNP	c.(2404-2406)CCC>GCC	49	49			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9	Broad	sodium bicarbonate transporter 4 isoform a			74462257		0.547	ENSG00000188687	14429	g.chr2:74462257G>C		apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity							12.248259	KEEP	3	7	-1	24	48	3	7	-1	22.514856	24	48	0.114286	1	0	0	0	0	1	0	0	0	--	--		0	C			SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.P802A|SLC4A5_uc010ffc.1_Missense_Mutation_p.P802A|SLC4A5_uc002skp.1_Intron|SLC4A5_uc002sks.1_Intron	189	GBM-27-1830-TP	p.P802A	G	TGCAGCTTGGGAGTTTCTAGG	NM_021196	NP_067019	74462257	Q9BY07	S4A5_HUMAN	0			17	2406	-	C	C			Missense_Mutation	802			Cytoplasmic (Potential).			
SLC4A5	0	broad.mit.edu	GRCh37	2	74479508	74479508	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2528-01	TCGA-27-2528-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000346834.4:c.1276G>A	p.Val426Met	p.V426M	ENST00000346834		426	Gtg/Atg	0			1			T	V/M	uc002sko.1	protein_coding					1276/3123									ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9	c.(1276-1278)GTG>ATG			hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF20,Gene3D:1hynR00,TIGRFAM_domain:TIGR00834,Superfamily_domains:SSF55804	sodium bicarbonate transporter 4 isoform a				ENSP00000251768		16/29									COSM3407981,COSM3407980	16/29	.		ENST00000346834	Transcript				apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	ENSG00000188687	g.chr2:74479508C>T	18168			MODERATE		0.49	neutral	getma.org/?cm=msa&ty=f&p=S4A5_HUMAN&rb=409&re=486&var=V426M	NA	getma.org/?cm=var&var=hg19,2,74479508,C,T&fts=all	V426M	--	--	1																																		SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.V426M|SLC4A5_uc010ffc.1_Missense_Mutation_p.V426M|SLC4A5_uc002skp.1_Missense_Mutation_p.V362M|SLC4A5_uc002sks.1_Missense_Mutation_p.V426M	1,1			possibly_damaging(0.596)	p.V426M	NM_021196	NP_067019		tolerated(0.47)	1,1	S4A5_HUMAN	SLC4A5	HGNC	Q9BY07	S4A5_HUMAN			Q9UDR3_HUMAN,Q53QY5_HUMAN,C9JW32_HUMAN,C9JU12_HUMAN,C9JNL6_HUMAN		11	1278	-			UPI000007386D	426			Cytoplasmic (Potential).		SNV	SLC4A5,missense_variant,p.Val426Met,ENST00000394019,NM_133478.2;SLC4A5,missense_variant,p.Val426Met,ENST00000423644,;SLC4A5,missense_variant,p.Val426Met,ENST00000346834,;SLC4A5,missense_variant,p.Val362Met,ENST00000359484,;SLC4A5,missense_variant,p.Val426Met,ENST00000377634,;SLC4A5,missense_variant,p.Val426Met,ENST00000357822,NM_021196.3;SLC4A5,missense_variant,p.Val362Met,ENST00000358683,;SLC4A5,missense_variant,p.Val426Met,ENST00000377632,;SLC4A5,missense_variant,p.Val426Met,ENST00000425249,;SLC4A5,non_coding_transcript_exon_variant,,ENST00000483195,;RP11-287D1.3,3_prime_UTR_variant,,ENST00000451608,;SLC4A5,upstream_gene_variant,,ENST00000479776,;	uc002sko.1	c.1276G>A	1674/6104	1	1			c.1276G>A						2	SNP	c.(1276-1278)GTG>ATG	4	4			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9	Broad	sodium bicarbonate transporter 4 isoform a			74479508		0.433	ENSG00000188687	14429	g.chr2:74479508C>T		apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity							30.440796	KEEP	11	7	-1	40	45	11	7	-1	38.818038	40	45	0.181818	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.V426M|SLC4A5_uc010ffc.1_Missense_Mutation_p.V426M|SLC4A5_uc002skp.1_Missense_Mutation_p.V362M|SLC4A5_uc002sks.1_Missense_Mutation_p.V426M	205	GBM-27-2528-TP	p.V426M	C	AGGGAGAACACAGATTTCCTG	NM_021196	NP_067019	74479508	Q9BY07	S4A5_HUMAN	0			11	1278	-	T	T			Missense_Mutation	426			Cytoplasmic (Potential).			
SLC4A5	57835		GRCh37	2	74477637	74477637	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000377634.4:c.1486G>A	p.Gly496Ser	p.G496S	ENST00000377634		496	Ggt/Agt	0																																																																																																																																																																																																																																												
SLC4A7	9497	broad.mit.edu	GRCh37	3	27418278	27418278	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0171-01	TCGA-06-0171-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295736.5:c.3622G>A	p.Val1208Met	p.V1208M	ENST00000295736	NM_003615.4	1208	Gtg/Atg	0		T:0	1	T:0		T	V/M	uc003cdv.2	protein_coding	YES	CCDS33721.1			3622/3645									ovary(3)|central_nervous_system(1)|skin(1)	5	c.(3622-3624)GTG>ATG			hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF36	solute carrier family 4, sodium bicarbonate		T:0		ENSP00000295736	T:0	25/25	8.24E-05					0.000106		0.000182	rs200768562,COSM1043442,COSM2150350	25/25	.		ENST00000295736	Transcript		T:0.0002		apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	ENSG00000033867	g.chr3:27418278C>T	11033			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=S4A7_HUMAN&rb=1089&re=1214&var=V1208M	NA	getma.org/?cm=var&var=hg19,3,27418278,C,T&fts=all	V1208M	--	--	1																																		SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.V1125M|SLC4A7_uc011aww.1_Missense_Mutation_p.V1253M|SLC4A7_uc011awx.1_Missense_Mutation_p.V1240M|SLC4A7_uc011awy.1_Missense_Mutation_p.V1200M|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.V1089M|SLC4A7_uc011axb.1_Missense_Mutation_p.V1204M|SLC4A7_uc010hfl.2_Missense_Mutation_p.V794M|SLC4A7_uc003cdw.2_Missense_Mutation_p.V1084M	0,1,1	1		benign(0.007)	p.V1208M	NM_003615	NP_003606	T:0.001	tolerated_low_confidence(0.69)	0,1,1	S4A7_HUMAN	SLC4A7	HGNC	Q9Y6M7	S4A7_HUMAN					25	3693	-			UPI0000DBEEB7	1208			Cytoplasmic (Potential).		SNV	SLC4A7,missense_variant,p.Val1208Met,ENST00000295736,NM_003615.4;SLC4A7,missense_variant,p.Val1084Met,ENST00000428386,NM_001258380.1;SLC4A7,missense_variant,p.Val795Met,ENST00000419036,;SLC4A7,missense_variant,p.Val1253Met,ENST00000454389,;SLC4A7,missense_variant,p.Val1240Met,ENST00000440156,;SLC4A7,missense_variant,p.Val1204Met,ENST00000445684,;SLC4A7,missense_variant,p.Val794Met,ENST00000388777,;SLC4A7,missense_variant,p.Val1200Met,ENST00000446700,;SLC4A7,missense_variant,p.Val1129Met,ENST00000435667,;SLC4A7,missense_variant,p.Val1125Met,ENST00000455077,NM_001258379.1;SLC4A7,missense_variant,p.Val1089Met,ENST00000437179,;SLC4A7,3_prime_UTR_variant,,ENST00000425128,;SLC4A7,3_prime_UTR_variant,,ENST00000438530,;SLC4A7,3_prime_UTR_variant,,ENST00000457377,;SLC4A7,3_prime_UTR_variant,,ENST00000437266,;SLC4A7,non_coding_transcript_exon_variant,,ENST00000465487,;	uc003cdv.2	c.3622G>A	3693/7757	1	1			c.3622G>A						3	SNP	c.(3622-3624)GTG>ATG	3	3			ovary(3)|central_nervous_system(1)|skin(1)	5	Broad	solute carrier family 4, sodium bicarbonate			27418278		0.259	ENSG00000033867	14430	g.chr3:27418278C>T		apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity							52.362277	KEEP	14	12	-1	36	46	14	12	-1	56.559389	36	46	0.25641	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.V1125M|SLC4A7_uc011aww.1_Missense_Mutation_p.V1253M|SLC4A7_uc011awx.1_Missense_Mutation_p.V1240M|SLC4A7_uc011awy.1_Missense_Mutation_p.V1200M|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.V1089M|SLC4A7_uc011axb.1_Missense_Mutation_p.V1204M|SLC4A7_uc010hfl.2_Missense_Mutation_p.V794M|SLC4A7_uc003cdw.2_Missense_Mutation_p.V1084M	35	GBM-06-0171-TP	p.V1208M	C	TCAGCATCCACGTATTTCTTT	NM_003615	NP_003606	27418278	Q9Y6M7	S4A7_HUMAN	0			25	3693	-	T	T			Missense_Mutation	1208			Cytoplasmic (Potential).			
SLC4A7	0	broad.mit.edu	GRCh37	3	27431585	27431585	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01	TCGA-12-3649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295736.5:c.3170G>A	p.Arg1057His	p.R1057H	ENST00000295736	NM_003615.4	1057	cGt/cAt	0			1			T	R/H	uc003cdv.2	protein_coding	YES	CCDS33721.1			3170/3645									ovary(3)|central_nervous_system(1)|skin(1)	5	c.(3169-3171)CGT>CAT			Pfam_domain:PF00955,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF36,TIGRFAM_domain:TIGR00834	solute carrier family 4, sodium bicarbonate				ENSP00000295736		22/25									COSM1495517,COSM2949142	22/25	.		ENST00000295736	Transcript				apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	ENSG00000033867	g.chr3:27431585C>T	11033			MODERATE		4.045	high	getma.org/?cm=msa&ty=f&p=S4A7_HUMAN&rb=574&re=1088&var=R1057H	NA	getma.org/?cm=var&var=hg19,3,27431585,C,T&fts=all	R1057H	--	--	1																																		SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.R938H|SLC4A7_uc011aww.1_Missense_Mutation_p.R1066H|SLC4A7_uc011awx.1_Missense_Mutation_p.R1053H|SLC4A7_uc011awy.1_Missense_Mutation_p.R1049H|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.R938H|SLC4A7_uc011axb.1_Missense_Mutation_p.R1053H|SLC4A7_uc010hfl.2_Missense_Mutation_p.R607H|SLC4A7_uc003cdw.2_Missense_Mutation_p.R933H	1,1	1		probably_damaging(1)	p.R1057H	NM_003615	NP_003606		deleterious(0)	1,1	S4A7_HUMAN	SLC4A7	HGNC	Q9Y6M7	S4A7_HUMAN					22	3241	-			UPI0000DBEEB7	1057			Extracellular (Potential).		SNV	SLC4A7,missense_variant,p.Arg1057His,ENST00000295736,NM_003615.4;SLC4A7,missense_variant,p.Arg933His,ENST00000428386,NM_001258380.1;SLC4A7,missense_variant,p.Arg608His,ENST00000419036,;SLC4A7,missense_variant,p.Arg1066His,ENST00000454389,;SLC4A7,missense_variant,p.Arg1053His,ENST00000440156,;SLC4A7,missense_variant,p.Arg1053His,ENST00000445684,;SLC4A7,missense_variant,p.Arg607His,ENST00000388777,;SLC4A7,missense_variant,p.Arg1049His,ENST00000446700,;SLC4A7,missense_variant,p.Arg942His,ENST00000435667,;SLC4A7,missense_variant,p.Arg938His,ENST00000455077,NM_001258379.1;SLC4A7,missense_variant,p.Arg938His,ENST00000437179,;SLC4A7,missense_variant,p.Arg953His,ENST00000428179,;SLC4A7,3_prime_UTR_variant,,ENST00000425128,;SLC4A7,3_prime_UTR_variant,,ENST00000438530,;SLC4A7,3_prime_UTR_variant,,ENST00000457377,;SLC4A7,3_prime_UTR_variant,,ENST00000437266,;SLC4A7,non_coding_transcript_exon_variant,,ENST00000465487,;	uc003cdv.2	c.3170G>A	3241/7757	1	1			c.3170G>A						3	SNP	c.(3169-3171)CGT>CAT	5	5			ovary(3)|central_nervous_system(1)|skin(1)	5	Broad	solute carrier family 4, sodium bicarbonate			27431585		0.328	ENSG00000033867	14430	g.chr3:27431585C>T		apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity							-42.167708	KEEP	2	2	-1	88	113	2	2	-1	6.608843	88	113	0.021053	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.R938H|SLC4A7_uc011aww.1_Missense_Mutation_p.R1066H|SLC4A7_uc011awx.1_Missense_Mutation_p.R1053H|SLC4A7_uc011awy.1_Missense_Mutation_p.R1049H|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.R938H|SLC4A7_uc011axb.1_Missense_Mutation_p.R1053H|SLC4A7_uc010hfl.2_Missense_Mutation_p.R607H|SLC4A7_uc003cdw.2_Missense_Mutation_p.R933H	125	GBM-12-3649-TP	p.R1057H	C	TAATTTTATACGGTCAAATAA	NM_003615	NP_003606	27431585	Q9Y6M7	S4A7_HUMAN	0			22	3241	-	T	T			Missense_Mutation	1057			Extracellular (Potential).			
SLC4A7	9497		GRCh37	3	27478926	27478926	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000295736.5:c.354A>C	p.Glu118Asp	p.E118D	ENST00000295736	NM_003615.4	118	gaA/gaC	0																																																																																																																																																																																																																																												
SLC52A3	113278	broad.mit.edu	GRCh37	20	744504	744504	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217254.7:c.711G>A	p.Ala237=	p.A237=	ENST00000217254	NM_033409.3	237	gcG/gcA	0		T:0.0008	1	T:0		T	A	uc002wed.3	protein_coding	YES	CCDS13007.1			711/1410									ovary(2)	2	c.(709-711)GCG>GCA			hmmpanther:PTHR12929,hmmpanther:PTHR12929:SF4,Transmembrane_helices:TMhelix	hypothetical protein LOC113278 precursor		T:0		ENSP00000217254	T:0.001	5-Mar	0.000156	9.64E-05			0.00168	0.000105			rs183391382	5-Mar	common_variant		ENST00000217254	Transcript	1	T:0.0004	sensory perception of sound	integral to plasma membrane	riboflavin transporter activity	ENSG00000101276	g.chr20:744504C>T	16187			LOW								--	--	1																																		C20orf54_uc002wee.2_Silent_p.A237A		1			p.A237A	NM_033409	NP_212134	T:0			S52A3_HUMAN	SLC52A3	HGNC	Q9NQ40	RFT2_HUMAN			K0A6P4_HUMAN		3	1050	-			UPI000002A74E	237			Helical; (Potential).		SNV	SLC52A3,synonymous_variant,p.=,ENST00000381944,;SLC52A3,synonymous_variant,p.=,ENST00000217254,NM_033409.3;SLC52A3,intron_variant,,ENST00000473664,;SLC52A3,downstream_gene_variant,,ENST00000488495,;	uc002wed.3	c.711G>A	953/2598	1	1			c.711G>A						20	SNP	c.(709-711)GCG>GCA	9	9			ovary(2)	2	Broad	hypothetical protein LOC113278 precursor			744504		0.617	ENSG00000101276	2070	g.chr20:744504C>T	sensory perception of sound	integral to plasma membrane	riboflavin transporter activity							-12.750686	KEEP	2	2	-1	47	52	2	2	-1	8.331368	47	52	0.042553	1	0	0	0	0	0	0	1	0	--	--		0	T			C20orf54_uc002wee.2_Silent_p.A237A	18	GBM-06-0137-TP	p.A237A	C	GGACAAAGAACGCCACGAGGC	NM_033409	NP_212134	744504	Q9NQ40	RFT2_HUMAN	0			3	1050	-	T	T			Silent	237			Helical; (Potential).			
SLC52A3	113278	broad.mit.edu	GRCh37	20	744614	744614	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01	TCGA-06-2558-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217254.7:c.601G>A	p.Gly201Arg	p.G201R	ENST00000217254	NM_033409.3	201	Gga/Aga	0		T:0	1	T:0		T	G/R	uc002wed.3	protein_coding	YES	CCDS13007.1			601/1410									ovary(2)	2	c.(601-603)GGA>AGA			hmmpanther:PTHR12929,hmmpanther:PTHR12929:SF4	hypothetical protein LOC113278 precursor		T:0		ENSP00000217254	T:0	5-Mar	4.14E-05	0.000156	0.000437					0.00016	rs565998859,COSM3405297,COSM3405298	5-Mar	common_variant		ENST00000217254	Transcript	1	T:0.0002	sensory perception of sound	integral to plasma membrane	riboflavin transporter activity	ENSG00000101276	g.chr20:744614C>T	16187			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=RFT2_HUMAN&rb=201&re=293&var=G201R	NA	getma.org/?cm=var&var=hg19,20,744614,C,T&fts=all	G201R	--	--	1																																		C20orf54_uc002wee.2_Missense_Mutation_p.G201R	0,1,1	1		benign(0.001)	p.G201R	NM_033409	NP_212134	T:0.001	tolerated(0.15)	0,1,1	S52A3_HUMAN	SLC52A3	HGNC	Q9NQ40	RFT2_HUMAN			K0A6P4_HUMAN		3	940	-			UPI000002A74E	201					SNV	SLC52A3,missense_variant,p.Gly201Arg,ENST00000381944,;SLC52A3,missense_variant,p.Gly201Arg,ENST00000217254,NM_033409.3;SLC52A3,intron_variant,,ENST00000473664,;SLC52A3,downstream_gene_variant,,ENST00000488495,;	uc002wed.3	c.601G>A	843/2598	1	1			c.601G>A						20	SNP	c.(601-603)GGA>AGA	5	5			ovary(2)	2	Broad	hypothetical protein LOC113278 precursor			744614		0.587	ENSG00000101276	2070	g.chr20:744614C>T	sensory perception of sound	integral to plasma membrane	riboflavin transporter activity							16.844514	KEEP	3	3	-1	5	7	3	3	-1	17.287068	5	7	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	T			C20orf54_uc002wee.2_Missense_Mutation_p.G201R	82	GBM-06-2558-TP	p.G201R	C	GCTTCCATTCCGGGGAGGGCG	NM_033409	NP_212134	744614	Q9NQ40	RFT2_HUMAN	0			3	940	-	T	T			Missense_Mutation	201						
SLC5A1	6523		GRCh37	22	32445981	32445981	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000266088.4:c.187C>T	p.Arg63Ter	p.R63*	ENST00000266088	NM_000343.3	63	Cga/Tga	0																																																																																																																																																																																																																																												
SLC5A11	115584	broad.mit.edu	GRCh37	16	24921737	24921739	+	inframe_deletion	In_Frame_Del	DEL	CAG	CAG	-			TCGA-06-0166-01	TCGA-06-0166-01	CAG	CAG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000347898.3:c.1774_1776del	p.Ser592del	p.S592del	ENST00000347898	NM_052944.3	587	gcCAGc/gcc	0			1			-	AS/A	uc002dmu.2	protein_coding	YES	CCDS10625.1			1761-1763/2028									ovary(2)	2	c.(1759-1764)GCCAGC>GCC			hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF127	solute carrier family 5 (sodium/glucose				ENSP00000289932		15/16	0.00432	0.00302	0.00552	0.00456	0.00229	0.00401	0.00224	0.00556	rs140499762,TMP_ESP_16_24921737_24921739	15/16	common_variant		ENST00000347898	Transcript			apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	ENSG00000158865	g.chr16:24921737_24921739delCAG	23091	13		MODERATE								--	--	1																																		SLC5A11_uc002dms.2_In_Frame_Del_p.S528del|SLC5A11_uc010vcd.1_In_Frame_Del_p.S557del|SLC5A11_uc002dmt.2_In_Frame_Del_p.S436del|SLC5A11_uc010vce.1_In_Frame_Del_p.S522del|SLC5A11_uc010bxt.2_In_Frame_Del_p.S528del|SLC5A11_uc002dmv.2_In_Frame_Del_p.S215del		1			p.S592del	NM_052944	NP_443176				SC5AB_HUMAN	SLC5A11	HGNC	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	H3BN85_HUMAN		15	1993_1995	+			UPI0000036161	592			Cytoplasmic (Potential).		deletion	SLC5A11,inframe_deletion,p.Ser592del,ENST00000347898,NM_052944.3;SLC5A11,inframe_deletion,p.Ser557del,ENST00000424767,NM_001258411.1;SLC5A11,inframe_deletion,p.Ser557del,ENST00000567758,;SLC5A11,inframe_deletion,p.Ser528del,ENST00000565769,NM_001258413.1;SLC5A11,inframe_deletion,p.Ser522del,ENST00000545376,NM_001258412.1;SLC5A11,inframe_deletion,p.Ser522del,ENST00000568579,;SLC5A11,inframe_deletion,p.Ser528del,ENST00000539472,;SLC5A11,inframe_deletion,p.Ser436del,ENST00000449109,NM_001258414.1;SLC5A11,inframe_deletion,p.Ser436del,ENST00000569071,;SLC5A11,3_prime_UTR_variant,,ENST00000488922,;	uc002dmu.2	c.1761_1763delCAG	2383-2385/2745	5	5			c.1761_1763delCAG						16	DEL	c.(1759-1764)GCCAGC>GCC	55	55			ovary(2)	2	Broad	solute carrier family 5 (sodium/glucose			24921739		0.542	ENSG00000158865	14435	g.chr16:24921737_24921739delCAG	apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity																				0.04	1	1	0	1	0	0	0	0	0	--	--		0	-			SLC5A11_uc002dms.2_In_Frame_Del_p.S528del|SLC5A11_uc010vcd.1_In_Frame_Del_p.S557del|SLC5A11_uc002dmt.2_In_Frame_Del_p.S436del|SLC5A11_uc010vce.1_In_Frame_Del_p.S522del|SLC5A11_uc010bxt.2_In_Frame_Del_p.S528del|SLC5A11_uc002dmv.2_In_Frame_Del_p.S215del	31	GBM-06-0166-TP	p.S592del	CAG	TGCCAGAGGCCAGCAGCAGCAGC	NM_052944	NP_443176	24921737	Q8WWX8	SC5AB_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0365)	15	1993_1995	+	-	-			In_Frame_Del	592			Cytoplasmic (Potential).			
SLC5A12	0	broad.mit.edu	GRCh37	11	26734241	26734241	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396005.3:c.352C>T	p.Arg118Ter	p.R118*	ENST00000396005	NM_178498.3	118	Cga/Tga	0			1			A	R/*	uc001mra.2	protein_coding	YES	CCDS7860.2			352/1857									ovary(1)|skin(1)	2	c.(352-354)CGA>TGA			TIGRFAM_domain:TIGR00813,hmmpanther:PTHR11819,Pfam_domain:PF00474,PROSITE_profiles:PS50283,hmmpanther:PTHR11819:SF113	solute carrier family 5 (sodium/glucose				ENSP00000379326		15-Feb	8.24E-06					1.50E-05			rs760914360,COSM2154814,COSM2154815	15-Feb	.		ENST00000396005	Transcript			sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	ENSG00000148942	g.chr11:26734241G>A	28750			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,11,26734241,G,A&fts=all	R118*	--	--	1																																		SLC5A12_uc001mrb.2_RNA|SLC5A12_uc001mrc.3_Nonsense_Mutation_p.R118*	0,1,1	1			p.R118*	NM_178498	NP_848593			0,1,1	SC5AC_HUMAN	SLC5A12	HGNC	Q1EHB4	SC5AC_HUMAN			E9PLZ7_HUMAN		2	665	-			UPI000003ED2C	118			Cytoplasmic (Potential).		SNV	SLC5A12,stop_gained,p.Arg118Ter,ENST00000396005,NM_178498.3;SLC5A12,stop_gained,p.Arg118Ter,ENST00000280467,;SLC5A12,5_prime_UTR_variant,,ENST00000533617,;SLC5A12,5_prime_UTR_variant,,ENST00000527405,;SLC5A12,non_coding_transcript_exon_variant,,ENST00000528822,;	uc001mra.2	c.352C>T	662/6250	5	2			c.352C>T						11	SNP	c.(352-354)CGA>TGA	35	35			ovary(1)|skin(1)	2	Broad	solute carrier family 5 (sodium/glucose			26734241		0.418	ENSG00000148942	14436	g.chr11:26734241G>A	sodium ion transport	apical plasma membrane|integral to membrane	symporter activity							243.367332	KEEP	54	48	-1	130	110	54	48	-1	256.328113	130	110	0.2875	1	0	0	0	0	0	1	0	0	--	--		0	A			SLC5A12_uc001mrb.2_RNA|SLC5A12_uc001mrc.3_Nonsense_Mutation_p.R118*	139	GBM-14-0817-TP	p.R118*	G	TTGTTGAATCGTAGTTGTAAG	NM_178498	NP_848593	26734241	Q1EHB4	SC5AC_HUMAN	0			2	665	-	A	A			Nonsense_Mutation	118			Cytoplasmic (Potential).			
SLC5A12	0	broad.mit.edu	GRCh37	11	26718717	26718717	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396005.3:c.1034C>T	p.Thr345Ile	p.T345I	ENST00000396005	NM_178498.3	345	aCt/aTt	0			1			A	T/I	uc001mra.2	protein_coding	YES	CCDS7860.2			1034/1857									ovary(1)|skin(1)	2	c.(1033-1035)ACT>ATT			TIGRFAM_domain:TIGR00813,hmmpanther:PTHR11819,Pfam_domain:PF00474,PROSITE_profiles:PS50283,hmmpanther:PTHR11819:SF113	solute carrier family 5 (sodium/glucose				ENSP00000379326		15-Aug									COSM3397623,COSM3397624	15-Aug	.		ENST00000396005	Transcript			sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	ENSG00000148942	g.chr11:26718717G>A	28750			MODERATE		3.27	medium	getma.org/?cm=msa&ty=f&p=SC5AC_HUMAN&rb=41&re=445&var=T345I	getma.org/pdb.php?prot=SC5AC_HUMAN&from=41&to=445&var=T345I	getma.org/?cm=var&var=hg19,11,26718717,G,A&fts=all	T345I	--	--	1																																		SLC5A12_uc001mrb.2_RNA|SLC5A12_uc001mrc.3_Missense_Mutation_p.T345I	1,1	1		probably_damaging(1)	p.T345I	NM_178498	NP_848593		deleterious(0)	1,1	SC5AC_HUMAN	SLC5A12	HGNC	Q1EHB4	SC5AC_HUMAN			E9PLZ7_HUMAN		8	1347	-			UPI000003ED2C	345			Cytoplasmic (Potential).		SNV	SLC5A12,missense_variant,p.Thr345Ile,ENST00000396005,NM_178498.3;SLC5A12,missense_variant,p.Thr345Ile,ENST00000280467,;SLC5A12,downstream_gene_variant,,ENST00000533617,;SLC5A12,missense_variant,p.Thr157Ile,ENST00000527405,;	uc001mra.2	c.1034C>T	1344/6250	1	1			c.1034C>T						11	SNP	c.(1033-1035)ACT>ATT	60	60			ovary(1)|skin(1)	2	Broad	solute carrier family 5 (sodium/glucose			26718717		0.373	ENSG00000148942	14436	g.chr11:26718717G>A	sodium ion transport	apical plasma membrane|integral to membrane	symporter activity							-21.314503	KEEP	1	3	-1	55	71	1	3	-1	8.054293	55	71	0.03252	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC5A12_uc001mrb.2_RNA|SLC5A12_uc001mrc.3_Missense_Mutation_p.T345I	190	GBM-27-1831-TP	p.T345I	G	TAACCTCAGAGTTCCACTGAA	NM_178498	NP_848593	26718717	Q1EHB4	SC5AC_HUMAN	0			8	1347	-	A	A			Missense_Mutation	345			Cytoplasmic (Potential).			
SLC5A12	0	broad.mit.edu	GRCh37	11	26708091	26708091	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-27-2527-01	TCGA-27-2527-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396005.3:c.1154delG	p.Cys385PhefsTer6	p.C385Ffs*6	ENST00000396005	NM_178498.3	385	tGt/tt	0			1			-	C/X	uc001mra.2	protein_coding	YES	CCDS7860.2			1154/1857									ovary(1)|skin(1)	2	c.(1153-1155)TGTfs			TIGRFAM_domain:TIGR00813,hmmpanther:PTHR11819,Pfam_domain:PF00474,PROSITE_profiles:PS50283,hmmpanther:PTHR11819:SF113,Transmembrane_helices:TMhelix	solute carrier family 5 (sodium/glucose				ENSP00000379326		15-Oct									COSM2157308	15-Oct	.		ENST00000396005	Transcript			sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	ENSG00000148942	g.chr11:26708091delC	28750			HIGH								--	--	1																																		SLC5A12_uc001mrb.2_RNA	1	1			p.C385fs	NM_178498	NP_848593			1	SC5AC_HUMAN	SLC5A12	HGNC	Q1EHB4	SC5AC_HUMAN			E9PLZ7_HUMAN		10	1467	-			UPI000003ED2C	385			Cytoplasmic (Potential).		deletion	SLC5A12,frameshift_variant,p.Cys385PhefsTer6,ENST00000396005,NM_178498.3;SLC5A12,frameshift_variant,p.Arg198SerfsTer235,ENST00000527405,;	uc001mra.2	c.1154delG	1464/6250	5	5			c.1154delG						11	DEL	c.(1153-1155)TGTfs	51	51			ovary(1)|skin(1)	2	Broad	solute carrier family 5 (sodium/glucose			26708091		0.453	ENSG00000148942	14436	g.chr11:26708091delC	sodium ion transport	apical plasma membrane|integral to membrane	symporter activity																				0.2	1	1	0	1	0	0	0	0	0	--	--		0	-			SLC5A12_uc001mrb.2_RNA	204	GBM-27-2527-TP	p.C385fs	C	AAATAAGAGACCTGAAAGAAA	NM_178498	NP_848593	26708091	Q1EHB4	SC5AC_HUMAN	0			10	1467	-	-	-			Frame_Shift_Del	385			Cytoplasmic (Potential).			
SLC5A2	0	broad.mit.edu	GRCh37	16	31500623	31500623	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5951-01	TCGA-19-5951-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330498.3:c.1629G>A	p.Thr543=	p.T543=	ENST00000330498	NM_003041.3	543	acG/acA	0			1			A	T	uc002ecf.3	protein_coding	YES	CCDS10714.1			1629/2019									ovary(1)	1	c.(1627-1629)ACG>ACA			Transmembrane_helices:TMhelix,hmmpanther:PTHR11819:SF95,hmmpanther:PTHR11819	solute carrier family 5 (sodium/glucose				ENSP00000327943		14-Dec	2.47E-05				0.000156	3.03E-05			rs779189173,COSM1377671	14-Dec	.		ENST00000330498	Transcript	1		carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	ENSG00000140675	g.chr16:31500623G>A	11037			LOW								--	--	1																																		SLC5A2_uc010car.2_RNA|C16orf58_uc002ecg.2_RNA	0,1	1			p.T543T	NM_003041	NP_003032			0,1	SC5A2_HUMAN	SLC5A2	HGNC	P31639	SC5A2_HUMAN			H3BP44_HUMAN		12	1648	+			UPI000004D0A0	543			Helical; (Potential).		SNV	SLC5A2,synonymous_variant,p.=,ENST00000330498,NM_003041.3;C16orf58,downstream_gene_variant,,ENST00000327237,NM_022744.3;C16orf58,downstream_gene_variant,,ENST00000570164,;C16orf58,downstream_gene_variant,,ENST00000567994,;C16orf58,downstream_gene_variant,,ENST00000430477,;SLC5A2,downstream_gene_variant,,ENST00000569576,;AC026471.6,upstream_gene_variant,,ENST00000565137,;SLC5A2,upstream_gene_variant,,ENST00000564197,;SLC5A2,upstream_gene_variant,,ENST00000567051,;SLC5A2,missense_variant,p.Gly437Ser,ENST00000419665,;SLC5A2,non_coding_transcript_exon_variant,,ENST00000568188,;SLC5A2,non_coding_transcript_exon_variant,,ENST00000568891,;C16orf58,downstream_gene_variant,,ENST00000568491,;C16orf58,downstream_gene_variant,,ENST00000541442,;SLC5A2,downstream_gene_variant,,ENST00000562006,;C16orf58,downstream_gene_variant,,ENST00000567673,;C16orf58,downstream_gene_variant,,ENST00000567578,;C16orf58,downstream_gene_variant,,ENST00000565128,;SLC5A2,downstream_gene_variant,,ENST00000565446,;	uc002ecf.3	c.1629G>A	1648/2271	1	1			c.1629G>A						16	SNP	c.(1627-1629)ACG>ACA	53	53			ovary(1)	1	Broad	solute carrier family 5 (sodium/glucose			31500623		0.637	ENSG00000140675	14437	g.chr16:31500623G>A	carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity							17.168037	KEEP	2	6	-1	24	24	2	6	-1	22.671039	24	24	0.16	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC5A2_uc010car.2_RNA|C16orf58_uc002ecg.2_RNA	171	GBM-19-5951-TP	p.T543T	G	TCACCCTCACGGTCTCCCTGT	NM_003041	NP_003032	31500623	P31639	SC5A2_HUMAN	0			12	1648	+	A	A			Silent	543			Helical; (Potential).			
SLC5A3	6526	broad.mit.edu	GRCh37	21	35468403	35468404	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0174-01	TCGA-06-0174-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381151.3:c.908dup	p.Phe304LeufsTer23	p.F304Lfs*23	ENST00000381151		302	-/G	0			1			G	-/X	uc002yto.2	protein_coding	YES	CCDS33549.1			906-907/2157									ovary(2)	2	c.(904-909)GCTGGCfs			Transmembrane_helices:TMhelix,Pfam_domain:PF00474,TIGRFAM_domain:TIGR00813,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF123,PROSITE_profiles:PS50283	solute carrier family 5 (inositol transporters),				ENSP00000370543		2-Feb										2-Feb	.		ENST00000381151	Transcript				integral to plasma membrane	myo-inositol:sodium symporter activity	ENSG00000198743	g.chr21:35468403_35468404insG	11038	2		HIGH								--	--	1																																		MRPS6_uc002ytp.2_Intron					p.A302fs	NM_006933	NP_008864				SC5A3_HUMAN	SLC5A3	HGNC	P53794	SC5A3_HUMAN					2	1418_1419	+			UPI00001359F3	302_303			Cytoplasmic (Potential).		insertion	SLC5A3,frameshift_variant,p.Phe304LeufsTer23,ENST00000608209,NM_006933.4;SLC5A3,frameshift_variant,p.Phe304LeufsTer23,ENST00000381151,;MRPS6,intron_variant,,ENST00000399312,NM_032476.3;MRPS6,intron_variant,,ENST00000477091,;MRPS6,intron_variant,,ENST00000488492,;AP000320.7,intron_variant,,ENST00000362077,;	uc002yto.2	c.906_907insG	1418-1419/11574	5	5			c.906_907insG						21	INS	c.(904-909)GCTGGCfs	24	24			ovary(2)	2	Broad	solute carrier family 5 (inositol transporters),			35468404		0.47	ENSG00000198743	14438	g.chr21:35468403_35468404insG		integral to plasma membrane	myo-inositol:sodium symporter activity																				0.02	1	0	0	1	1	0	0	0	0	--	--		0	G			MRPS6_uc002ytp.2_Intron	37	GBM-06-0174-TP	p.A302fs	-	CTCTTATGGCTGGCTTCTTAAA	NM_006933	NP_008864	35468403	P53794	SC5A3_HUMAN	0			2	1418_1419	+	G	G			Frame_Shift_Ins	302_303			Cytoplasmic (Potential).			
SLC5A3	0	broad.mit.edu	GRCh37	21	35468403	35468404	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-12-0692-01	TCGA-12-0692-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381151.3:c.908dupG	p.Phe304LeufsTer23	p.F304Lfs*23	ENST00000381151		302	-/G	0			1			G	-/X	uc002yto.2	protein_coding	YES	CCDS33549.1			906-907/2157									ovary(2)	2	c.(904-909)GCTGGCfs			Transmembrane_helices:TMhelix,Pfam_domain:PF00474,TIGRFAM_domain:TIGR00813,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF123,PROSITE_profiles:PS50283	solute carrier family 5 (inositol transporters),				ENSP00000370543		2-Feb										2-Feb	.		ENST00000381151	Transcript				integral to plasma membrane	myo-inositol:sodium symporter activity	ENSG00000198743	g.chr21:35468403_35468404insG	11038	2		HIGH								--	--	1																																		MRPS6_uc002ytp.2_Intron					p.A302fs	NM_006933	NP_008864				SC5A3_HUMAN	SLC5A3	HGNC	P53794	SC5A3_HUMAN					2	1418_1419	+			UPI00001359F3	302_303			Cytoplasmic (Potential).		insertion	SLC5A3,frameshift_variant,p.Phe304LeufsTer23,ENST00000608209,NM_006933.4;SLC5A3,frameshift_variant,p.Phe304LeufsTer23,ENST00000381151,;MRPS6,intron_variant,,ENST00000399312,NM_032476.3;MRPS6,intron_variant,,ENST00000477091,;MRPS6,intron_variant,,ENST00000488492,;AP000320.7,intron_variant,,ENST00000362077,;	uc002yto.2	c.906_907insG	1418-1419/11574	5	5			c.906_907insG						21	INS	c.(904-909)GCTGGCfs	24	24			ovary(2)	2	Broad	solute carrier family 5 (inositol transporters),			35468404		0.47	ENSG00000198743	14438	g.chr21:35468403_35468404insG		integral to plasma membrane	myo-inositol:sodium symporter activity																				0.02	1	0	0	1	1	0	0	0	0	--	--		0	G			MRPS6_uc002ytp.2_Intron	122	GBM-12-0692-TP	p.A302fs	-	CTCTTATGGCTGGCTTCTTAAA	NM_006933	NP_008864	35468403	P53794	SC5A3_HUMAN	0			2	1418_1419	+	G	G			Frame_Shift_Ins	302_303			Cytoplasmic (Potential).			
SLC5A4	6527	broad.mit.edu	GRCh37	22	32650199	32650199	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01	TCGA-06-0154-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266086.4:c.137C>T	p.Ala46Val	p.A46V	ENST00000266086	NM_014227.2	46	gCg/gTg	0			1			A	A/V	uc003ami.2	protein_coding	YES	CCDS13903.1			137/1980										0	c.(136-138)GCG>GTG			PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF112,Transmembrane_helices:TMhelix	solute carrier family 5 (low affinity glucose				ENSP00000266086		15-Feb									COSM2149900	15-Feb	.		ENST00000266086	Transcript			carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	ENSG00000100191	g.chr22:32650199G>A	11039			MODERATE		1.805	low	getma.org/?cm=msa&ty=f&p=SC5A4_HUMAN&rb=1&re=57&var=A46V	NA	getma.org/?cm=var&var=hg19,22,32650199,G,A&fts=all	A46V	--	--	1																																			1	1		possibly_damaging(0.856)	p.A46V	NM_014227	NP_055042		deleterious(0.04)	1	SC5A4_HUMAN	SLC5A4	HGNC	Q9NY91	SC5A4_HUMAN			C7EWH7_HUMAN		2	139	-			UPI00001359F4	46			Helical; (Potential).		SNV	SLC5A4,missense_variant,p.Ala46Val,ENST00000266086,NM_014227.2;RP1-90G24.10,intron_variant,,ENST00000434942,;	uc003ami.2	c.137C>T	149/2028	2	2			c.137C>T						22	SNP	c.(136-138)GCG>GTG	37	37				0	Broad	solute carrier family 5 (low affinity glucose			32650199		0.572	ENSG00000100191	14439	g.chr22:32650199G>A	carbohydrate transport|sodium ion transport	integral to membrane	symporter activity							82.026301	KEEP	17	15	-1	24	31	17	15	-1	82.765504	24	31	0.394737	1	0	0	0	0	1	0	0	0	--	--		0	A				26	GBM-06-0154-TP	p.A46V	G	CTTCAGCATCGCCTGAGCAGA	NM_014227	NP_055042	32650199	Q9NY91	SC5A4_HUMAN	0			2	139	-	A	A			Missense_Mutation	46			Helical; (Potential).			
SLC5A4	6527	broad.mit.edu	GRCh37	22	32634986	32634986	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-5408-01	TCGA-06-5408-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266086.4:c.569T>C	p.Val190Ala	p.V190A	ENST00000266086	NM_014227.2	190	gTt/gCt	0			1			G	V/A	uc003ami.2	protein_coding	YES	CCDS13903.1			569/1980										0	c.(568-570)GTT>GCT			Pfam_domain:PF00474,PROSITE_patterns:PS00456,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF112,TIGRFAM_domain:TIGR00813,Transmembrane_helices:TMhelix	solute carrier family 5 (low affinity glucose				ENSP00000266086		15-Jun									COSM3405636	15-Jun	.		ENST00000266086	Transcript			carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	ENSG00000100191	g.chr22:32634986A>G	11039			MODERATE		0.685	neutral	getma.org/?cm=msa&ty=f&p=SC5A4_HUMAN&rb=58&re=492&var=V190A	getma.org/pdb.php?prot=SC5A4_HUMAN&from=58&to=492&var=V190A	getma.org/?cm=var&var=hg19,22,32634986,A,G&fts=all	V190A	--	--	1																																			1	1		benign(0.314)	p.V190A	NM_014227	NP_055042		tolerated(0.07)	1	SC5A4_HUMAN	SLC5A4	HGNC	Q9NY91	SC5A4_HUMAN			C7EWH7_HUMAN		6	571	-			UPI00001359F4	190			Helical; (Potential).		SNV	SLC5A4,missense_variant,p.Val190Ala,ENST00000266086,NM_014227.2;RP1-90G24.10,intron_variant,,ENST00000434942,;	uc003ami.2	c.569T>C	581/2028	3	3			c.569T>C						22	SNP	c.(568-570)GTT>GCT	16	16				0	Broad	solute carrier family 5 (low affinity glucose			32634986		0.448	ENSG00000100191	14439	g.chr22:32634986A>G	carbohydrate transport|sodium ion transport	integral to membrane	symporter activity							6.367693	KEEP	1	3	-1	13	15	1	3	-1	10.317972	13	15	0.133333	1	0	0	0	0	1	0	0	0	--	--		0	G				92	GBM-06-5408-TP	p.V190A	A	GGTGGTGTAAACAGCAGTCAT	NM_014227	NP_055042	32634986	Q9NY91	SC5A4_HUMAN	0			6	571	-	G	G			Missense_Mutation	190			Helical; (Potential).			
SLC5A4	0	broad.mit.edu	GRCh37	22	32626981	32626981	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs150200210		TCGA-32-2638-01	TCGA-32-2638-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266086.4:c.1103C>T	p.Thr368Met	p.T368M	ENST00000266086	NM_014227.2	368	aCg/aTg	0	A:0		1			A	T/M	uc003ami.2	protein_coding	YES	CCDS13903.1			1103/1980										0	c.(1102-1104)ACG>ATG			Pfam_domain:PF00474,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF112,TIGRFAM_domain:TIGR00813	solute carrier family 5 (low affinity glucose			A:0.0001	ENSP00000266086		15-Oct	8.24E-05				0.000459	0.000105			rs150200210,COSM3405633	15-Oct	common_variant		ENST00000266086	Transcript			carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	ENSG00000100191	g.chr22:32626981G>A	11039			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=SC5A4_HUMAN&rb=58&re=492&var=T368M	getma.org/pdb.php?prot=SC5A4_HUMAN&from=58&to=492&var=T368M	getma.org/?cm=var&var=hg19,22,32626981,G,A&fts=all	T368M	--	--	1																																			0,1	1		benign(0.041)	p.T368M	NM_014227	NP_055042		tolerated(0.11)	0,1	SC5A4_HUMAN	SLC5A4	HGNC	Q9NY91	SC5A4_HUMAN			C7EWH7_HUMAN		10	1105	-			UPI00001359F4	368			Extracellular (Potential).		SNV	SLC5A4,missense_variant,p.Thr368Met,ENST00000266086,NM_014227.2;RP1-90G24.10,intron_variant,,ENST00000434942,;	uc003ami.2	c.1103C>T	1115/2028	2	2			c.1103C>T						22	SNP	c.(1102-1104)ACG>ATG	34	34				0	Broad	solute carrier family 5 (low affinity glucose			32626981		0.537	ENSG00000100191	14439	g.chr22:32626981G>A	carbohydrate transport|sodium ion transport	integral to membrane	symporter activity							-0.606597	KEEP	3	1	-1	21	20	3	1	-1	7.072284	21	20	0.073171	1	0	0	0	0	1	0	0	0	--	--		0	A				242	GBM-32-2638-TP	p.T368M	G	CAGCACCATCGTGGGGTATGC	NM_014227	NP_055042	32626981	Q9NY91	SC5A4_HUMAN	0			10	1105	-	A	A			Missense_Mutation	368			Extracellular (Potential).			
SLC5A4	6527		GRCh37	22	32628993	32628993	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000266086.4:c.914A>C	p.Lys305Thr	p.K305T	ENST00000266086	NM_014227.2	305	aAg/aCg	0																																																																																																																																																																																																																																												
SLC5A5	0	broad.mit.edu	GRCh37	19	17986765	17986765	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01	TCGA-19-2631-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222248.3:c.548G>A	p.Gly183Asp	p.G183D	ENST00000222248	NM_000453.2	183	gGc/gAc	0			1			A	G/D	uc002nhr.3	protein_coding	YES	CCDS12368.1			548/1932									skin(2)|ovary(1)|central_nervous_system(1)	4	c.(547-549)GGC>GAC			Pfam_domain:PF00474,PROSITE_patterns:PS00456,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF18,TIGRFAM_domain:TIGR00813,Transmembrane_helices:TMhelix	solute carrier family 5 (sodium iodide				ENSP00000222248		15-May									rs750152679,COSM3403937	15-May	.		ENST00000222248	Transcript	1		cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	ENSG00000105641	g.chr19:17986765G>A	11040			MODERATE		4.255	high	getma.org/?cm=msa&ty=f&p=SC5A5_HUMAN&rb=47&re=452&var=G183D	getma.org/pdb.php?prot=SC5A5_HUMAN&from=47&to=452&var=G183D	getma.org/?cm=var&var=hg19,19,17986765,G,A&fts=all	G183D	--	--	1																																			0,1	1		probably_damaging(0.973)	p.G183D	NM_000453	NP_000444		deleterious(0)	0,1	SC5A5_HUMAN	SLC5A5	HGNC	Q92911	SC5A5_HUMAN			Q9UEU3_HUMAN		5	895	+			UPI00001359F6	183			Helical; (Potential).		SNV	SLC5A5,missense_variant,p.Gly183Asp,ENST00000222248,NM_000453.2;	uc002nhr.3	c.548G>A	895/3576	1	1			c.548G>A						19	SNP	c.(547-549)GGC>GAC	54	54			skin(2)|ovary(1)|central_nervous_system(1)	4	Broad	solute carrier family 5 (sodium iodide			17986765		0.557	ENSG00000105641	14440	g.chr19:17986765G>A	cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	Melanoma(65;1008 1708 7910 46650)			Melanoma(65;1008 1708 7910 46650)			-25.214454	KEEP	4	2	-1	66	95	4	2	-1	7.592001	66	95	0.02963	1	0	0	0	0	1	0	0	0	--	--		0	A				167	GBM-19-2631-TP	p.G183D	G	CTGCAGGGCGGCATGAAGGCT	NM_000453	NP_000444	17986765	Q92911	SC5A5_HUMAN	0			5	895	+	A	A			Missense_Mutation	183			Helical; (Potential).			
SLC5A7	60482	broad.mit.edu	GRCh37	2	108626770	108626770	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01	TCGA-06-0188-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264047.2:c.1196C>T	p.Thr399Met	p.T399M	ENST00000264047	NM_021815.2	399	aCg/aTg	0			1			T	T/M	uc002tdv.2	protein_coding	YES	CCDS2074.1			1196/1743									ovary(2)|central_nervous_system(1)|skin(1)	4	c.(1195-1197)ACG>ATG			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF129,Pfam_domain:PF00474	solute carrier family 5 (choline transporter),	Choline(DB00122)			ENSP00000264047		9-Sep	4.94E-05							0.000364	rs748755332,COSM2150612	9-Sep	.		ENST00000264047	Transcript	1		acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	ENSG00000115665	g.chr2:108626770C>T	14025			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=SC5A7_HUMAN&rb=42&re=442&var=T399M	getma.org/pdb.php?prot=SC5A7_HUMAN&from=42&to=442&var=T399M	getma.org/?cm=var&var=hg19,2,108626770,C,T&fts=all	T399M	--	--	1																																		SLC5A7_uc010ywm.1_Missense_Mutation_p.T152M|SLC5A7_uc010fjj.2_Missense_Mutation_p.T399M|SLC5A7_uc010ywn.1_Missense_Mutation_p.T286M	0,1	1		possibly_damaging(0.631)	p.T399M	NM_021815	NP_068587		deleterious(0.03)	0,1	SC5A7_HUMAN	SLC5A7	HGNC	Q9GZV3	SC5A7_HUMAN			Q2T9H3_HUMAN,F5H382_HUMAN		9	1472	+			UPI0000070792	399			Cytoplasmic (Potential).		SNV	SLC5A7,missense_variant,p.Thr399Met,ENST00000264047,NM_021815.2;SLC5A7,missense_variant,p.Thr399Met,ENST00000409059,;SLC5A7,missense_variant,p.Thr294Met,ENST00000540517,;	uc002tdv.2	c.1196C>T	1472/5152	2	2			c.1196C>T						2	SNP	c.(1195-1197)ACG>ATG	36	36			ovary(2)|central_nervous_system(1)|skin(1)	4	Broad	solute carrier family 5 (choline transporter),		Choline(DB00122)	108626770		0.463	ENSG00000115665	14442	g.chr2:108626770C>T	acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity							68.116481	KEEP	20	16	-1	56	55	20	16	-1	75.783831	56	55	0.237705	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC5A7_uc010ywm.1_Missense_Mutation_p.T152M|SLC5A7_uc010fjj.2_Missense_Mutation_p.T399M|SLC5A7_uc010ywn.1_Missense_Mutation_p.T286M	41	GBM-06-0188-TP	p.T399M	C	GCCTTGCTGACGAAAACTGTG	NM_021815	NP_068587	108626770	Q9GZV3	SC5A7_HUMAN	0			9	1472	+	T	T			Missense_Mutation	399			Cytoplasmic (Potential).			
SLC5A7	0	broad.mit.edu	GRCh37	2	108626880	108626880	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs148535388	byFrequency	TCGA-76-4932-01	TCGA-76-4932-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264047.2:c.1306G>A	p.Val436Met	p.V436M	ENST00000264047	NM_021815.2	436	Gtg/Atg	0	A:0.0009	A:0.0008	1	A:0		A	V/M	uc002tdv.2	protein_coding	YES	CCDS2074.1			1306/1743									ovary(2)|central_nervous_system(1)|skin(1)	4	c.(1306-1308)GTG>ATG			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF129,Pfam_domain:PF00474	solute carrier family 5 (choline transporter),	Choline(DB00122)	A:0	A:0.0003	ENSP00000264047	A:0	9-Sep	0.000173	0.000866		0.000462		0.000105		6.06E-05	rs148535388,COSM3406770	9-Sep	common_variant		ENST00000264047	Transcript	1	A:0.0002	acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	ENSG00000115665	g.chr2:108626880G>A	14025			MODERATE		2.005	medium	getma.org/?cm=msa&ty=f&p=SC5A7_HUMAN&rb=42&re=442&var=V436M	getma.org/pdb.php?prot=SC5A7_HUMAN&from=42&to=442&var=V436M	getma.org/?cm=var&var=hg19,2,108626880,G,A&fts=all	V436M	--	--	1																																		SLC5A7_uc010ywm.1_Missense_Mutation_p.V189M|SLC5A7_uc010fjj.2_Missense_Mutation_p.V436M|SLC5A7_uc010ywn.1_Missense_Mutation_p.V323M	0,1	1		benign(0.095)	p.V436M	NM_021815	NP_068587	A:0	tolerated(0.08)	0,1	SC5A7_HUMAN	SLC5A7	HGNC	Q9GZV3	SC5A7_HUMAN			Q2T9H3_HUMAN,F5H382_HUMAN		9	1582	+			UPI0000070792	436			Helical; (Potential).		SNV	SLC5A7,missense_variant,p.Val436Met,ENST00000264047,NM_021815.2;SLC5A7,missense_variant,p.Val436Met,ENST00000409059,;SLC5A7,missense_variant,p.Val331Met,ENST00000540517,;	uc002tdv.2	c.1306G>A	1582/5152	2	2			c.1306G>A						2	SNP	c.(1306-1308)GTG>ATG	32	32			ovary(2)|central_nervous_system(1)|skin(1)	4	Broad	solute carrier family 5 (choline transporter),		Choline(DB00122)	108626880		0.488	ENSG00000115665	14442	g.chr2:108626880G>A	acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity							221.322071	KEEP	33	49	-1	60	51	33	49	-1	222.109741	60	51	0.427746	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC5A7_uc010ywm.1_Missense_Mutation_p.V189M|SLC5A7_uc010fjj.2_Missense_Mutation_p.V436M|SLC5A7_uc010ywn.1_Missense_Mutation_p.V323M	271	GBM-76-4932-TP	p.V436M	G	CTATGGGGCCGTGGCAGGTTA	NM_021815	NP_068587	108626880	Q9GZV3	SC5A7_HUMAN	0			9	1582	+	A	A			Missense_Mutation	436			Helical; (Potential).			
SLC5A7	0	broad.mit.edu	GRCh37	2	108626710	108626710	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-76-6282-01	TCGA-76-6282-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264047.2:c.1138delG	p.Val380LeufsTer19	p.V380Lfs*19	ENST00000264047	NM_021815.2	379	tGg/tg	0			1			-	W/X	uc002tdv.2	protein_coding	YES	CCDS2074.1			1136/1743									ovary(2)|central_nervous_system(1)|skin(1)	4	c.(1135-1137)TGGfs			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF129,Pfam_domain:PF00474	solute carrier family 5 (choline transporter),	Choline(DB00122)			ENSP00000264047		9-Sep										9-Sep	.		ENST00000264047	Transcript	1		acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	ENSG00000115665	g.chr2:108626710delG	14025	2		HIGH								--	--	1																																		SLC5A7_uc010ywm.1_Frame_Shift_Del_p.W132fs|SLC5A7_uc010fjj.2_Frame_Shift_Del_p.W379fs|SLC5A7_uc010ywn.1_Frame_Shift_Del_p.W266fs		1			p.W379fs	NM_021815	NP_068587				SC5A7_HUMAN	SLC5A7	HGNC	Q9GZV3	SC5A7_HUMAN			Q2T9H3_HUMAN,F5H382_HUMAN		9	1412	+			UPI0000070792	379			Helical; (Potential).		deletion	SLC5A7,frameshift_variant,p.Val380LeufsTer19,ENST00000264047,NM_021815.2;SLC5A7,frameshift_variant,p.Val380LeufsTer19,ENST00000409059,;SLC5A7,frameshift_variant,p.Val275LeufsTer19,ENST00000540517,;	uc002tdv.2	c.1136delG	1412/5152	5	5			c.1136delG						2	DEL	c.(1135-1137)TGGfs	56	56			ovary(2)|central_nervous_system(1)|skin(1)	4	Broad	solute carrier family 5 (choline transporter),		Choline(DB00122)	108626710		0.443	ENSG00000115665	14442	g.chr2:108626710delG	acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity																				0.28	1	1	0	1	0	0	0	0	0	--	--		0	-			SLC5A7_uc010ywm.1_Frame_Shift_Del_p.W132fs|SLC5A7_uc010fjj.2_Frame_Shift_Del_p.W379fs|SLC5A7_uc010ywn.1_Frame_Shift_Del_p.W266fs	278	GBM-76-6282-TP	p.W379fs	G	GAAATCGTTTGGGTTATGCGA	NM_021815	NP_068587	108626710	Q9GZV3	SC5A7_HUMAN	0			9	1412	+	-	-			Frame_Shift_Del	379			Helical; (Potential).			
SLC5A7	60482		GRCh37	2	108604723	108604723	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000264047.2:c.112C>T	p.Arg38Cys	p.R38C	ENST00000264047	NM_021815.2	38	Cgc/Tgc	0																																																																																																																																																																																																																																												
SLC5A7	60482		GRCh37	2	108625088	108625088	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000264047.2:c.1063G>A	p.Ala355Thr	p.A355T	ENST00000264047	NM_021815.2	355	Gca/Aca	0																																																																																																																																																																																																																																												
SLC5A8	160728	broad.mit.edu	GRCh37	12	101555815	101555815	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-2561-01	TCGA-06-2561-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000536262.2:c.1567T>C	p.Tyr523His	p.Y523H	ENST00000536262	NM_145913.3	523	Tac/Cac	0			1			G	Y/H	uc001thz.3	protein_coding	YES	CCDS9080.1			1567/1833										0	c.(1567-1569)TAC>CAC			hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF121,Transmembrane_helices:TMhelix	solute carrier family 5 (iodide transporter),				ENSP00000445340		13/15									COSM3398250	13/15	.		ENST00000536262	Transcript			apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	ENSG00000256870	g.chr12:101555815A>G	19119			MODERATE		2.33	medium	getma.org/?cm=msa&ty=f&p=SC5A8_HUMAN&rb=450&re=610&var=Y523H	NA	getma.org/?cm=var&var=hg19,12,101555815,A,G&fts=all	Y523H	--	--	1																																			1	1		benign(0.162)	p.Y523H	NM_145913	NP_666018		deleterious(0.01)	1	SC5A8_HUMAN	SLC5A8	HGNC	Q8N695	SC5A8_HUMAN					13	1957	-			UPI000004DAF6	523			Helical; (Potential).		SNV	SLC5A8,missense_variant,p.Tyr523His,ENST00000536262,NM_145913.3;	uc001thz.3	c.1567T>C	2126/4178	3	3			c.1567T>C						12	SNP	c.(1567-1569)TAC>CAC	64	64				0	Broad	solute carrier family 5 (iodide transporter),			101555815		0.358	ENSG00000256870	14443	g.chr12:101555815A>G	apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	GBM(60;420 1056 13605 22380 47675)			GBM(60;420 1056 13605 22380 47675)			-101.378229	KEEP	4	8	-1	269	276	4	8	-1	23.134127	269	276	0.020661	1	0	0	0	0	1	0	0	0	--	--		0	G				84	GBM-06-2561-TP	p.Y523H	A	GTGCTGAAGTACAGATATGAT	NM_145913	NP_666018	101555815	Q8N695	SC5A8_HUMAN	0			13	1957	-	G	G			Missense_Mutation	523			Helical; (Potential).			
SLC5A8	0	broad.mit.edu	GRCh37	12	101588904	101588904	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01	TCGA-14-1395-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000536262.2:c.506C>T	p.Thr169Met	p.T169M	ENST00000536262	NM_145913.3	169	aCg/aTg	0			1			A	T/M	uc001thz.3	protein_coding	YES	CCDS9080.1			506/1833										0	c.(505-507)ACG>ATG			Pfam_domain:PF00474,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF121,TIGRFAM_domain:TIGR00813,Transmembrane_helices:TMhelix	solute carrier family 5 (iodide transporter),				ENSP00000445340		15-Apr	8.24E-06					1.51E-05			rs755368848,COSM1677281	15-Apr	.		ENST00000536262	Transcript			apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	ENSG00000256870	g.chr12:101588904G>A	19119			MODERATE		1.675	low	getma.org/?cm=msa&ty=f&p=SC5A8_HUMAN&rb=45&re=449&var=T169M	getma.org/pdb.php?prot=SC5A8_HUMAN&from=45&to=449&var=T169M	getma.org/?cm=var&var=hg19,12,101588904,G,A&fts=all	T169M	--	--	1																																			0,1	1		probably_damaging(0.995)	p.T169M	NM_145913	NP_666018		deleterious(0)	0,1	SC5A8_HUMAN	SLC5A8	HGNC	Q8N695	SC5A8_HUMAN					4	896	-			UPI000004DAF6	169			Helical; (Potential).		SNV	SLC5A8,missense_variant,p.Thr169Met,ENST00000536262,NM_145913.3;RNU6-768P,downstream_gene_variant,,ENST00000384683,;	uc001thz.3	c.506C>T	1065/4178	1	1			c.506C>T						12	SNP	c.(505-507)ACG>ATG	53	53				0	Broad	solute carrier family 5 (iodide transporter),			101588904		0.398	ENSG00000256870	14443	g.chr12:101588904G>A	apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	GBM(60;420 1056 13605 22380 47675)			GBM(60;420 1056 13605 22380 47675)			56.088236	KEEP	15	11	-1	18	16	15	11	-1	56.607691	18	16	0.392157	1	0	0	0	0	1	0	0	0	--	--		0	A				144	GBM-14-1395-TP	p.T169M	G	GACCACCCCCGTTGCCACTAC	NM_145913	NP_666018	101588904	Q8N695	SC5A8_HUMAN	0			4	896	-	A	A			Missense_Mutation	169			Helical; (Potential).			
SLC6A10P	386757		GRCh37	16	32890622	32890622	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	G			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000330048.5:n.3177A>C		p.*1059*	ENST00000330048				0																																																																																																																																																																																																																																												
SLC6A13	6540	broad.mit.edu	GRCh37	12	333649	333649	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01	TCGA-06-0185-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343164.4:c.1091G>A	p.Arg364Gln	p.R364Q	ENST00000343164	NM_016615.4	364	cGg/cAg	0			1			T	R/Q	uc001qic.1	protein_coding	YES	CCDS8502.1			1091/1809										0	c.(1090-1092)CGG>CAG			Superfamily_domains:0053687,Pfam_domain:PF00209,hmmpanther:PTHR11616:SF111,hmmpanther:PTHR11616,PROSITE_profiles:PS50267	solute carrier family 6 (neurotransmitter				ENSP00000339260		15-Oct									COSM2150534	15-Oct	.		ENST00000343164	Transcript			neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	ENSG00000010379	g.chr12:333649C>T	11046			MODERATE		0.655	neutral	getma.org/?cm=msa&ty=f&p=S6A13_HUMAN&rb=32&re=556&var=R364Q	getma.org/pdb.php?prot=S6A13_HUMAN&from=32&to=556&var=R364Q	getma.org/?cm=var&var=hg19,12,333649,C,T&fts=all	R364Q	0.115	neutral	1																																		SLC6A13_uc009zdj.1_Missense_Mutation_p.R354Q|SLC6A13_uc010sdl.1_Missense_Mutation_p.R272Q	1	1		probably_damaging(0.969)	p.R364Q	NM_016615	NP_057699		tolerated(0.31)	1	S6A13_HUMAN	SLC6A13	HGNC	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)				10	1144	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		UPI0000046060	364					SNV	SLC6A13,missense_variant,p.Arg364Gln,ENST00000343164,NM_016615.4;SLC6A13,missense_variant,p.Arg272Gln,ENST00000445055,NM_001190997.2;SLC6A13,intron_variant,,ENST00000542379,;SLC6A13,upstream_gene_variant,,ENST00000539668,;SLC6A13,non_coding_transcript_exon_variant,,ENST00000543722,;SLC6A13,non_coding_transcript_exon_variant,,ENST00000542947,;	uc001qic.1	c.1091G>A	1144/2185	2	2			c.1091G>A						12	SNP	c.(1090-1092)CGG>CAG	17	17				0	Broad	solute carrier family 6 (neurotransmitter			333649		0.617	ENSG00000010379	14448	g.chr12:333649C>T	neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity							136.982507	KEEP	21	38	-1	30	43	21	38	-1	137.320354	30	43	0.440367	1	0	0	0	0	1	0	0	0	0.115	neutral		0	T			SLC6A13_uc009zdj.1_Missense_Mutation_p.R354Q|SLC6A13_uc010sdl.1_Missense_Mutation_p.R272Q	40	GBM-06-0185-TP	p.R364Q	C	CACCACAGCCCGCGGGTAAGC	NM_016615	NP_057699	333649	Q9NSD5	S6A13_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		10	1144	-	T	T	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		Missense_Mutation	364						
SLC6A13	0	broad.mit.edu	GRCh37	12	333249	333249	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01	TCGA-28-1753-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343164.4:c.1220C>T	p.Pro407Leu	p.P407L	ENST00000343164	NM_016615.4	407	cCt/cTt	0			1			A	P/L	uc001qic.1	protein_coding	YES	CCDS8502.1			1220/1809										0	c.(1219-1221)CCT>CTT			Superfamily_domains:0053687,Pfam_domain:PF00209,hmmpanther:PTHR11616:SF111,hmmpanther:PTHR11616,PROSITE_profiles:PS50267	solute carrier family 6 (neurotransmitter				ENSP00000339260		15-Nov									COSM3398680	15-Nov	.		ENST00000343164	Transcript			neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	ENSG00000010379	g.chr12:333249G>A	11046			MODERATE		3.6	high	getma.org/?cm=msa&ty=f&p=S6A13_HUMAN&rb=32&re=556&var=P407L	getma.org/pdb.php?prot=S6A13_HUMAN&from=32&to=556&var=P407L	getma.org/?cm=var&var=hg19,12,333249,G,A&fts=all	P407L	--	--	1																																		SLC6A13_uc009zdj.1_Missense_Mutation_p.P397L|SLC6A13_uc010sdl.1_Missense_Mutation_p.P315L	1	1		probably_damaging(0.989)	p.P407L	NM_016615	NP_057699		deleterious(0)	1	S6A13_HUMAN	SLC6A13	HGNC	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)				11	1273	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		UPI0000046060	407					SNV	SLC6A13,missense_variant,p.Pro407Leu,ENST00000343164,NM_016615.4;SLC6A13,missense_variant,p.Pro315Leu,ENST00000445055,NM_001190997.2;SLC6A13,non_coding_transcript_exon_variant,,ENST00000539668,;SLC6A13,intron_variant,,ENST00000542379,;SLC6A13,non_coding_transcript_exon_variant,,ENST00000543722,;SLC6A13,downstream_gene_variant,,ENST00000542947,;	uc001qic.1	c.1220C>T	1273/2185	1	1			c.1220C>T						12	SNP	c.(1219-1221)CCT>CTT	55	55				0	Broad	solute carrier family 6 (neurotransmitter			333249		0.562	ENSG00000010379	14448	g.chr12:333249G>A	neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity							-8.535642	KEEP	2	1	-1	36	34	2	1	-1	6.594893	36	34	0.044118	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC6A13_uc009zdj.1_Missense_Mutation_p.P397L|SLC6A13_uc010sdl.1_Missense_Mutation_p.P315L	207	GBM-28-1753-TP	p.P407L	G	GAACACGTGAGGGTACATGTC	NM_016615	NP_057699	333249	Q9NSD5	S6A13_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		11	1273	-	A	A	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		Missense_Mutation	407						
SLC6A14	0	broad.mit.edu	GRCh37	X	115582754	115582754	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-27-1832-01	TCGA-27-1832-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371900.4:c.1078T>G	p.Phe360Val	p.F360V	ENST00000371900	NM_007231.3	360	Ttt/Gtt	0			1			G	F/V	uc004eqi.2	protein_coding	YES	CCDS14570.1			1078/1929									ovary(2)|pancreas(1)	3	c.(1078-1080)TTT>GTT			Superfamily_domains:0053687,Pfam_domain:PF00209,Prints_domain:PR00176,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF120,Transmembrane_helices:TMhelix	solute carrier family 6 (amino acid	L-Proline(DB00172)			ENSP00000360967		14-Aug									COSM3405861	14-Aug	.		ENST00000371900	Transcript			cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	ENSG00000087916	g.chrX:115582754T>G	11047			MODERATE		0.925	low	getma.org/?cm=msa&ty=f&p=S6A14_HUMAN&rb=36&re=588&var=F360V	getma.org/pdb.php?prot=S6A14_HUMAN&from=36&to=588&var=F360V	getma.org/?cm=var&var=hg19,X,115582754,T,G&fts=all	F360V	--	--	1																																			1	1		possibly_damaging(0.629)	p.F360V	NM_007231	NP_009162		deleterious(0.01)	1	S6A14_HUMAN	SLC6A14	HGNC	Q9UN76	S6A14_HUMAN					8	1182	+			UPI0000072E3C	360			Helical; Name=7; (Potential).		SNV	SLC6A14,missense_variant,p.Phe360Val,ENST00000371900,NM_007231.3;SLC6A14,upstream_gene_variant,,ENST00000463626,;	uc004eqi.2	c.1078T>G	1166/4521	3	3			c.1078T>G						23	SNP	c.(1078-1080)TTT>GTT	62	62			ovary(2)|pancreas(1)	3	Broad	solute carrier family 6 (amino acid		L-Proline(DB00172)	115582754		0.358	ENSG00000087916	14449	g.chrX:115582754T>G	cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity							-68.782707	KEEP	4	1	-1	191	134	4	1	-1	8.991711	191	134	0.016949	1	0	0	0	0	1	0	0	0	--	--		0	G				191	GBM-27-1832-TP	p.F360V	T	CACTAGCGTGTTTGCTGGATT	NM_007231	NP_009162	115582754	Q9UN76	S6A14_HUMAN	0			8	1182	+	G	G			Missense_Mutation	360			Helical; Name=7; (Potential).			
SLC6A14	0	broad.mit.edu	GRCh37	X	115573956	115573956	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-32-2634-01	TCGA-32-2634-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371900.4:c.448G>T	p.Glu150Ter	p.E150*	ENST00000371900	NM_007231.3	150	Gaa/Taa	0			1			T	E/*	uc004eqi.2	protein_coding	YES	CCDS14570.1			448/1929									ovary(2)|pancreas(1)	3	c.(448-450)GAA>TAA			Superfamily_domains:0053687,Pfam_domain:PF00209,PROSITE_patterns:PS00754,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF120	solute carrier family 6 (amino acid	L-Proline(DB00172)			ENSP00000360967		14-Apr									COSM3405860	14-Apr	.		ENST00000371900	Transcript			cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	ENSG00000087916	g.chrX:115573956G>T	11047			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,X,115573956,G,T&fts=all	E150*	--	--	1																																		SLC6A14_uc011mtm.1_RNA	1	1			p.E150*	NM_007231	NP_009162			1	S6A14_HUMAN	SLC6A14	HGNC	Q9UN76	S6A14_HUMAN					4	552	+			UPI0000072E3C	150			Extracellular (Potential).		SNV	SLC6A14,stop_gained,p.Glu150Ter,ENST00000371900,NM_007231.3;	uc004eqi.2	c.448G>T	536/4521	5	1			c.448G>T						23	SNP	c.(448-450)GAA>TAA	11	11			ovary(2)|pancreas(1)	3	Broad	solute carrier family 6 (amino acid		L-Proline(DB00172)	115573956		0.323	ENSG00000087916	14449	g.chrX:115573956G>T	cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity							284.883905	KEEP	64	31	0.673684211	11	5	64	31	0.673684211	297.085753	11	5	0.852941	1	0	0	0	0	0	1	0	0	--	--		0	T			SLC6A14_uc011mtm.1_RNA	241	GBM-32-2634-TP	p.E150*	G	TTTTCAAAGTGAACTACCATG	NM_007231	NP_009162	115573956	Q9UN76	S6A14_HUMAN	0			4	552	+	T	T			Nonsense_Mutation	150			Extracellular (Potential).			
SLC6A14	11254		GRCh37	X	115586616	115586616	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000371900.4:c.1598C>T	p.Thr533Met	p.T533M	ENST00000371900	NM_007231.3	533	aCg/aTg	0																																																																																																																																																																																																																																												
SLC6A14	11254		GRCh37	X	115588823	115588823	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000371900.4:c.1663G>A	p.Ala555Thr	p.A555T	ENST00000371900	NM_007231.3	555	Gca/Aca	0																																																																																																																																																																																																																																												
SLC6A15	0	broad.mit.edu	GRCh37	12	85255645	85255645	+	synonymous_variant	Silent	SNP	T	T	A			TCGA-14-0740-01	TCGA-14-0740-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266682.5:c.1959A>T	p.Ala653=	p.A653=	ENST00000266682	NM_182767.5	653	gcA/gcT	0			1			A	A	uc001szv.2	protein_coding	YES	CCDS9026.1			1959/2193									pancreas(2)|ovary(1)	3	c.(1957-1959)GCA>GCT			hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF101	solute carrier family 6, member 15 isoform 1				ENSP00000266682		12-Dec									COSM3399143	12-Dec	.		ENST00000266682	Transcript			cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	ENSG00000072041	g.chr12:85255645T>A	13621			LOW								--	--	1																																		SLC6A15_uc010sul.1_Silent_p.A546A|SLC6A15_uc001szw.1_Missense_Mutation_p.H315L	1	1			p.A653A	NM_182767	NP_877499			1	S6A15_HUMAN	SLC6A15	HGNC	Q9H2J7	S6A15_HUMAN			Q68CX0_HUMAN,F8VX16_HUMAN,F8VSG1_HUMAN		12	2452	-			UPI0000038BF2	653			Cytoplasmic (Potential).		SNV	SLC6A15,missense_variant,p.His315Leu,ENST00000309283,;SLC6A15,synonymous_variant,p.=,ENST00000266682,NM_182767.5;SLC6A15,synonymous_variant,p.=,ENST00000552192,NM_001146335.2;SLC6A15,non_coding_transcript_exon_variant,,ENST00000548267,;	uc001szv.2	c.1959A>T	2501/4044	1	1			c.1959A>T						12	SNP	c.(1957-1959)GCA>GCT	51	51			pancreas(2)|ovary(1)	3	Broad	solute carrier family 6, member 15 isoform 1			85255645		0.438	ENSG00000072041	14450	g.chr12:85255645T>A	cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity							41.142846	KEEP	10	8	-1	31	33	10	8	-1	46.662931	31	33	0.220779	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC6A15_uc010sul.1_Silent_p.A546A|SLC6A15_uc001szw.1_Missense_Mutation_p.H315L	132	GBM-14-0740-TP	p.A653A	T	AGGTCACAGATGCTAAATTAC	NM_182767	NP_877499	85255645	Q9H2J7	S6A15_HUMAN	0			12	2452	-	A	A			Silent	653			Cytoplasmic (Potential).			
SLC6A15	0	broad.mit.edu	GRCh37	12	85270346	85270346	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-76-4928-01	TCGA-76-4928-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266682.5:c.797T>A	p.Ile266Asn	p.I266N	ENST00000266682	NM_182767.5	266	aTt/aAt	0			1			T	I/N	uc001szv.2	protein_coding	YES	CCDS9026.1			797/2193									pancreas(2)|ovary(1)	3	c.(796-798)ATT>AAT			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF101,Pfam_domain:PF00209,Superfamily_domains:0053687,Prints_domain:PR00176	solute carrier family 6, member 15 isoform 1				ENSP00000266682		12-Jun									COSM3399144	12-Jun	.		ENST00000266682	Transcript			cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	ENSG00000072041	g.chr12:85270346A>T	13621			MODERATE		3.31	medium	getma.org/?cm=msa&ty=f&p=S6A15_HUMAN&rb=61&re=644&var=I266N	getma.org/pdb.php?prot=S6A15_HUMAN&from=61&to=644&var=I266N	getma.org/?cm=var&var=hg19,12,85270346,A,T&fts=all	I266N	--	--	1																																		SLC6A15_uc010sul.1_Missense_Mutation_p.I159N	1	1		benign(0.343)	p.I266N	NM_182767	NP_877499		deleterious(0)	1	S6A15_HUMAN	SLC6A15	HGNC	Q9H2J7	S6A15_HUMAN			Q68CX0_HUMAN,F8VX16_HUMAN,F8VSG1_HUMAN		6	1290	-			UPI0000038BF2	266			Helical; Name=5; (Potential).		SNV	SLC6A15,missense_variant,p.Ile266Asn,ENST00000266682,NM_182767.5;SLC6A15,missense_variant,p.Ile159Asn,ENST00000552192,NM_001146335.2;SLC6A15,5_prime_UTR_variant,,ENST00000551612,;SLC6A15,downstream_gene_variant,,ENST00000450363,NM_018057.6;SLC6A15,upstream_gene_variant,,ENST00000309283,;SLC6A15,non_coding_transcript_exon_variant,,ENST00000551388,;SLC6A15,upstream_gene_variant,,ENST00000551818,;	uc001szv.2	c.797T>A	1339/4044	1	1			c.797T>A						12	SNP	c.(796-798)ATT>AAT	16	16			pancreas(2)|ovary(1)	3	Broad	solute carrier family 6, member 15 isoform 1			85270346		0.303	ENSG00000072041	14450	g.chr12:85270346A>T	cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity							87.508806	KEEP	15	24	-1	61	73	15	24	-1	96.081257	61	73	0.23913	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC6A15_uc010sul.1_Missense_Mutation_p.I159N	268	GBM-76-4928-TP	p.I266N	A	GAGGAAGCAAATAAGTACCAC	NM_182767	NP_877499	85270346	Q9H2J7	S6A15_HUMAN	0			6	1290	-	T	T			Missense_Mutation	266			Helical; Name=5; (Potential).			
SLC6A16	0	broad.mit.edu	GRCh37	19	49812323	49812323	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-16-1045-01	TCGA-16-1045-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335875.4:c.1039T>A	p.Leu347Met	p.L347M	ENST00000335875	NM_014037.2	347	Ttg/Atg	0			1			T	L/M	uc002pmz.2	protein_coding	YES	CCDS42590.1			1039/2211									skin(2)|ovary(1)|kidney(1)	4	c.(1039-1041)TTG>ATG			Superfamily_domains:0053687,Pfam_domain:PF00209,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF48	solute carrier family 6, member 16				ENSP00000338627		12-Jul									COSM3404446	12-Jul	.		ENST00000335875	Transcript				integral to membrane|intracellular	neurotransmitter:sodium symporter activity	ENSG00000063127	g.chr19:49812323A>T	13622			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=S6A16_HUMAN&rb=103&re=685&var=L347M	getma.org/pdb.php?prot=S6A16_HUMAN&from=103&to=685&var=L347M	getma.org/?cm=var&var=hg19,19,49812323,A,T&fts=all	L347M	--	--	1																																		SLC6A16_uc002pna.2_Missense_Mutation_p.L347M|hsa-mir-4324|MI0015854_5'Flank	1	1		probably_damaging(0.993)	p.L347M	NM_014037	NP_054756		deleterious(0.02)	1	S6A16_HUMAN	SLC6A16	HGNC	Q9GZN6	S6A16_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	M0QYK3_HUMAN		7	1273	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	UPI00001305CE	347			Helical; Name=6; (Potential).		SNV	SLC6A16,missense_variant,p.Leu347Met,ENST00000454748,;SLC6A16,missense_variant,p.Leu347Met,ENST00000335875,NM_014037.2;SLC6A16,intron_variant,,ENST00000598828,;SLC6A16,intron_variant,,ENST00000597969,;SLC6A16,intron_variant,,ENST00000594917,;SLC6A16,upstream_gene_variant,,ENST00000594180,;MIR4324,upstream_gene_variant,,ENST00000584846,;SLC6A16,intron_variant,,ENST00000598221,;	uc002pmz.2	c.1039T>A	1281/2938	2	2			c.1039T>A						19	SNP	c.(1039-1041)TTG>ATG	25	25			skin(2)|ovary(1)|kidney(1)	4	Broad	solute carrier family 6, member 16			49812323		0.478	ENSG00000063127	14451	g.chr19:49812323A>T		integral to membrane|intracellular	neurotransmitter:sodium symporter activity							291.209261	KEEP	59	71	-1	133	160	59	71	-1	304.070501	133	160	0.30137	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC6A16_uc002pna.2_Missense_Mutation_p.L347M|hsa-mir-4324|MI0015854_5'Flank	157	GBM-16-1045-TP	p.L347M	A	GTGTTAGACAAAACTTGACCC	NM_014037	NP_054756	49812323	Q9GZN6	S6A16_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	7	1273	-	T	T		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	Missense_Mutation	347			Helical; Name=6; (Potential).			
SLC6A17	388662	broad.mit.edu	GRCh37	1	110709512	110709512	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A			TCGA-06-0210-01	TCGA-06-0210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331565.4:c.-40G>A		p.*14*	ENST00000331565	NM_001010898.2			0			1			A		uc009wfq.2	protein_coding	YES	CCDS30799.1			-/2184									ovary(1)|pancreas(1)	2	c.(-41--37)CTGTG>CTATG				solute carrier family 6, member 17				ENSP00000330199		12-Feb										12-Feb	.		ENST00000331565	Transcript	1		alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	ENSG00000197106	g.chr1:110709512G>A	31399			MODIFIER								--	--	1																																				1				NM_001010898	NP_001010898				S6A17_HUMAN	SLC6A17	HGNC	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)			2	422	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	UPI0000470B3D						SNV	SLC6A17,5_prime_UTR_variant,,ENST00000331565,NM_001010898.2;RP5-1028L10.1,non_coding_transcript_exon_variant,,ENST00000443008,;RP5-1028L10.1,non_coding_transcript_exon_variant,,ENST00000430098,;RP5-1028L10.1,downstream_gene_variant,,ENST00000418579,;	uc009wfq.2	c.-39G>A	446/6427	2	2			c.-39G>A						1	SNP	c.(-41--37)CTGTG>CTATG	17	17			ovary(1)|pancreas(1)	2	Broad	solute carrier family 6, member 17			110709512		0.547	ENSG00000197106	14452	g.chr1:110709512G>A	alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity							15.206116	KEEP	3	6	-1	12	14	3	6	-1	17.54002	12	14	0.21875	1	0	0	0	0	0	0	0	0	--	--		0	A				47	GBM-06-0210-TP		G	CATCTTCTCTGTGTGCTGGGG	NM_001010898	NP_001010898	110709512	Q9H1V8	S6A17_HUMAN	0		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	2	422	+	A	A		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	Translation_Start_Site							
SLC6A17	0	broad.mit.edu	GRCh37	1	110735165	110735165	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01	TCGA-41-3393-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331565.4:c.1144G>A	p.Val382Ile	p.V382I	ENST00000331565	NM_001010898.2	382	Gtc/Atc	0			1			A	V/I	uc009wfq.2	protein_coding	YES	CCDS30799.1			1144/2184									ovary(1)|pancreas(1)	2	c.(1144-1146)GTC>ATC			Pfam_domain:PF00209,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF102	solute carrier family 6, member 17				ENSP00000330199		12-Aug									COSM3399532	12-Aug	.		ENST00000331565	Transcript	1		alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	ENSG00000197106	g.chr1:110735165G>A	31399			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=S6A17_HUMAN&rb=60&re=643&var=V382I	getma.org/pdb.php?prot=S6A17_HUMAN&from=60&to=643&var=V382I	getma.org/?cm=var&var=hg19,1,110735165,G,A&fts=all	V382I	--	--	1																																		SLC6A17_uc001dze.1_5'UTR	1	1		benign(0.025)	p.V382I	NM_001010898	NP_001010898		tolerated(0.58)	1	S6A17_HUMAN	SLC6A17	HGNC	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)			8	1605	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	UPI0000470B3D	382			Extracellular (Potential).		SNV	SLC6A17,missense_variant,p.Val382Ile,ENST00000331565,NM_001010898.2;SLC6A17,upstream_gene_variant,,ENST00000465159,;	uc009wfq.2	c.1144G>A	1629/6427	2	2			c.1144G>A						1	SNP	c.(1144-1146)GTC>ATC	28	28			ovary(1)|pancreas(1)	2	Broad	solute carrier family 6, member 17			110735165		0.537	ENSG00000197106	14452	g.chr1:110735165G>A	alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity							40.467059	KEEP	10	11	-1	47	46	10	11	-1	49.244849	47	46	0.191919	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC6A17_uc001dze.1_5'UTR	255	GBM-41-3393-TP	p.V382I	G	TAACACCAACGTCCTGAGCCG	NM_001010898	NP_001010898	110735165	Q9H1V8	S6A17_HUMAN	0		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	8	1605	+	A	A		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	Missense_Mutation	382			Extracellular (Potential).			
SLC6A18	0	broad.mit.edu	GRCh37	5	1225635	1225635	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01	TCGA-16-1045-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324642.3:c.43G>A	p.Gly15Arg	p.G15R	ENST00000324642	NM_182632.2	15	Ggg/Agg	0			1			A	G/R	uc003jby.1	protein_coding	YES	CCDS3860.1			43/1887									ovary(1)	1	c.(43-45)GGG>AGG			hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF109	solute carrier family 6, member 18				ENSP00000323549		12-Jan	5.77E-05					9.04E-05		6.07E-05	rs778159448,COSM3409685	12-Jan	.		ENST00000324642	Transcript	1		cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	ENSG00000164363	g.chr5:1225635G>A	26441			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=S6A18_HUMAN&rb=1&re=47&var=G15R	NA	getma.org/?cm=var&var=hg19,5,1225635,G,A&fts=all	G15R	--	--	1																																			0,1	1		benign(0.354)	p.G15R	NM_182632	NP_872438		tolerated(0.43)	0,1	S6A18_HUMAN	SLC6A18	HGNC	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)				1	166	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		UPI0000197EA2	15			Cytoplasmic (Potential).		SNV	SLC6A18,missense_variant,p.Gly15Arg,ENST00000324642,NM_182632.2;SLC6A18,missense_variant,p.Gly15Arg,ENST00000296821,;SLC6A19,downstream_gene_variant,,ENST00000304460,NM_001003841.2;SLC6A18,non_coding_transcript_exon_variant,,ENST00000513607,;SLC6A19,downstream_gene_variant,,ENST00000515652,;	uc003jby.1	c.43G>A	166/2121	2	2			c.43G>A						5	SNP	c.(43-45)GGG>AGG	33	33			ovary(1)	1	Broad	solute carrier family 6, member 18			1225635		0.642	ENSG00000164363	14453	g.chr5:1225635G>A	cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity							2.024079	KEEP	17	12	-1	33	37	17	12	-1	12.897518	33	37	0.092308	1	0	0	0	0	1	0	0	0	--	--		0	A				157	GBM-16-1045-TP	p.G15R	G	CTGCGACCTCGGGGATGAGAG	NM_182632	NP_872438	1225635	Q96N87	S6A18_HUMAN	0	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		1	166	+	A	A	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Missense_Mutation	15			Cytoplasmic (Potential).			
SLC6A18	0	broad.mit.edu	GRCh37	5	1244741	1244741	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324642.3:c.1515G>A	p.Ala505=	p.A505=	ENST00000324642	NM_182632.2	505	gcG/gcA	0			1			A	A	uc003jby.1	protein_coding	YES	CCDS3860.1			1515/1887									ovary(1)	1	c.(1513-1515)GCG>GCA			PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF109,Pfam_domain:PF00209,Superfamily_domains:0053687	solute carrier family 6, member 18				ENSP00000323549		12-Nov	8.24E-06					1.53E-05			rs202091732,COSM1060203	12-Nov	.		ENST00000324642	Transcript	1		cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	ENSG00000164363	g.chr5:1244741G>A	26441			LOW								--	--	1																																			0,1	1			p.A505A	NM_182632	NP_872438			0,1	S6A18_HUMAN	SLC6A18	HGNC	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)				11	1638	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		UPI0000197EA2	505			Cytoplasmic (Potential).		SNV	SLC6A18,synonymous_variant,p.=,ENST00000324642,NM_182632.2;SLC6A18,downstream_gene_variant,,ENST00000296821,;	uc003jby.1	c.1515G>A	1638/2121	1	1			c.1515G>A						5	SNP	c.(1513-1515)GCG>GCA	59	59			ovary(1)	1	Broad	solute carrier family 6, member 18			1244741		0.612	ENSG00000164363	14453	g.chr5:1244741G>A	cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity							62.162667	KEEP	12	16	-1	47	36	12	16	-1	66.422037	47	36	0.269663	1	0	0	0	0	0	0	1	0	--	--		0	A				240	GBM-32-2632-TP	p.A505A	G	ATGACATTGCGTGGATGACCG	NM_182632	NP_872438	1244741	Q96N87	S6A18_HUMAN	0	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		11	1638	+	A	A	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Silent	505			Cytoplasmic (Potential).			
SLC6A18	0	broad.mit.edu	GRCh37	5	1244838	1244838	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4926-01	TCGA-76-4926-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324642.3:c.1612C>T	p.Leu538=	p.L538=	ENST00000324642	NM_182632.2	538	Ctg/Ttg	0			1			T	L	uc003jby.1	protein_coding	YES	CCDS3860.1			1612/1887									ovary(1)	1	c.(1612-1614)CTG>TTG			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF109,Pfam_domain:PF00209,Superfamily_domains:0053687	solute carrier family 6, member 18				ENSP00000323549		12-Nov									COSM3409690	12-Nov	.		ENST00000324642	Transcript	1		cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	ENSG00000164363	g.chr5:1244838C>T	26441			LOW								--	--	1																																			1	1			p.L538L	NM_182632	NP_872438			1	S6A18_HUMAN	SLC6A18	HGNC	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)				11	1735	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		UPI0000197EA2	538			Helical; Name=11; (Potential).		SNV	SLC6A18,synonymous_variant,p.=,ENST00000324642,NM_182632.2;SLC6A18,downstream_gene_variant,,ENST00000296821,;	uc003jby.1	c.1612C>T	1735/2121	2	2			c.1612C>T						5	SNP	c.(1612-1614)CTG>TTG	35	35			ovary(1)	1	Broad	solute carrier family 6, member 18			1244838		0.617	ENSG00000164363	14453	g.chr5:1244838C>T	cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity							122.143057	KEEP	27	19	-1	39	36	27	19	-1	123.393323	39	36	0.387387	1	0	0	0	0	0	0	1	0	--	--		0	T				266	GBM-76-4926-TP	p.L538L	C	CATCATCCTCCTGTTCTGGAA	NM_182632	NP_872438	1244838	Q96N87	S6A18_HUMAN	0	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		11	1735	+	T	T	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Silent	538			Helical; Name=11; (Potential).			
SLC6A19	340024	broad.mit.edu	GRCh37	5	1208942	1208942	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01	TCGA-06-0124-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304460.10:c.284G>A	p.Arg95Gln	p.R95Q	ENST00000304460	NM_001003841.2	95	cGg/cAg	0		A:0	1	A:0.0014		A	R/Q	uc003jbw.3	protein_coding	YES	CCDS34130.1			284/1905										0	c.(283-285)CGG>CAG			PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF125,Pfam_domain:PF00209,Superfamily_domains:0053687	solute carrier family 6, member 19		A:0		ENSP00000305302	A:0	12-Feb									rs201936518,COSM2149317	12-Feb	.		ENST00000304460	Transcript	1	A:0.0002	cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	ENSG00000174358	g.chr5:1208942G>A	27960			MODERATE		3.5	medium	getma.org/?cm=msa&ty=f&p=S6A19_HUMAN&rb=32&re=608&var=R95Q	getma.org/pdb.php?prot=S6A19_HUMAN&from=32&to=608&var=R95Q	getma.org/?cm=var&var=hg19,5,1208942,G,A&fts=all	R95Q	--	--	1																																			0,1	1		probably_damaging(0.929)	p.R95Q	NM_001003841	NP_001003841	A:0	deleterious(0.01)	0,1	S6A19_HUMAN	SLC6A19	HGNC	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		B3KVZ8_HUMAN		2	340	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		UPI0000401AF8	95			Cytoplasmic (Potential).		SNV	SLC6A19,missense_variant,p.Arg95Gln,ENST00000304460,NM_001003841.2;SLC6A19,missense_variant,p.Arg95Gln,ENST00000515652,;	uc003jbw.3	c.284G>A	340/5174	2	2			c.284G>A						5	SNP	c.(283-285)CGG>CAG	25	25				0	Broad	solute carrier family 6, member 19			1208942		0.677	ENSG00000174358	14454	g.chr5:1208942G>A	cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity							62.853003	KEEP	23	15	-1	64	22	23	15	-1	66.211638	64	22	0.283951	1	0	0	0	0	1	0	0	0	--	--		0	A				11	GBM-06-0124-TP	p.R95Q	G	ATCGGGCAGCGGCTGCGGCGG	NM_001003841	NP_001003841	1208942	Q695T7	S6A19_HUMAN	0	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		2	340	+	A	A	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Missense_Mutation	95			Cytoplasmic (Potential).			
SLC6A19	0	broad.mit.edu	GRCh37	5	1217004	1217004	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0688-01	TCGA-12-0688-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304460.10:c.1117G>A	p.Ala373Thr	p.A373T	ENST00000304460	NM_001003841.2	373	Gcg/Acg	0			1			A	A/T	uc003jbw.3	protein_coding	YES	CCDS34130.1			1117/1905										0	c.(1117-1119)GCG>ACG			PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF125,Pfam_domain:PF00209	solute carrier family 6, member 19				ENSP00000305302		12-Aug	0.000214		0.000605	0.00162		7.54E-05			rs775834401,COSM2153887	12-Aug	common_variant		ENST00000304460	Transcript	1		cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	ENSG00000174358	g.chr5:1217004G>A	27960			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=S6A19_HUMAN&rb=32&re=608&var=A373T	NA	getma.org/?cm=var&var=hg19,5,1217004,G,A&fts=all	A373T	--	--	1																																			0,1	1		benign(0.005)	p.A373T	NM_001003841	NP_001003841		tolerated(0.51)	0,1	S6A19_HUMAN	SLC6A19	HGNC	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		B3KVZ8_HUMAN		8	1173	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		UPI0000401AF8	373			Extracellular (Potential).		SNV	SLC6A19,missense_variant,p.Ala373Thr,ENST00000304460,NM_001003841.2;SLC6A19,3_prime_UTR_variant,,ENST00000515652,;	uc003jbw.3	c.1117G>A	1173/5174	2	2			c.1117G>A						5	SNP	c.(1117-1119)GCG>ACG	46	46				0	Broad	solute carrier family 6, member 19			1217004		0.622	ENSG00000174358	14454	g.chr5:1217004G>A	cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity							385.588275	KEEP	78	83	-1	122	144	78	83	-1	390.082079	122	144	0.382114	1	0	0	0	0	1	0	0	0	--	--		0	A				121	GBM-12-0688-TP	p.A373T	G	CTCCGACCCCGCGGCCTACGC	NM_001003841	NP_001003841	1217004	Q695T7	S6A19_HUMAN	0	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		8	1173	+	A	A	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Missense_Mutation	373			Extracellular (Potential).			
SLC6A19	0	broad.mit.edu	GRCh37	5	1214110	1214110	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-5132-01	TCGA-26-5132-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304460.10:c.817G>A	p.Ala273Thr	p.A273T	ENST00000304460	NM_001003841.2	273	Gca/Aca	0	A:0.0002		1			A	A/T	uc003jbw.3	protein_coding	YES	CCDS34130.1			817/1905										0	c.(817-819)GCA>ACA			PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF125,Pfam_domain:PF00209,Superfamily_domains:0053687	solute carrier family 6, member 19			A:0	ENSP00000305302		12-Jun	4.12E-05	0.000292				3.04E-05			rs373991930,COSM2156906	12-Jun	.		ENST00000304460	Transcript	1		cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	ENSG00000174358	g.chr5:1214110G>A	27960			MODERATE		-0.575	neutral	getma.org/?cm=msa&ty=f&p=S6A19_HUMAN&rb=32&re=608&var=A273T	getma.org/pdb.php?prot=S6A19_HUMAN&from=32&to=608&var=A273T	getma.org/?cm=var&var=hg19,5,1214110,G,A&fts=all	A273T	--	--	1																																			0,1	1		benign(0.262)	p.A273T	NM_001003841	NP_001003841		tolerated(1)	0,1	S6A19_HUMAN	SLC6A19	HGNC	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		B3KVZ8_HUMAN		6	873	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		UPI0000401AF8	273			Helical; Name=6; (Potential).		SNV	SLC6A19,missense_variant,p.Ala273Thr,ENST00000304460,NM_001003841.2;SLC6A19,missense_variant,p.Arg242His,ENST00000515652,;	uc003jbw.3	c.817G>A	873/5174	2	2			c.817G>A						5	SNP	c.(817-819)GCA>ACA	24	24				0	Broad	solute carrier family 6, member 19			1214110		0.647	ENSG00000174358	14454	g.chr5:1214110G>A	cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity							301.484617	KEEP	55	58	-1	65	51	55	58	-1	301.504996	65	51	0.510309	1	0	0	0	0	1	0	0	0	--	--		0	A				181	GBM-26-5132-TP	p.A273T	G	GGACGCGGGCGCACAGGTCTT	NM_001003841	NP_001003841	1214110	Q695T7	S6A19_HUMAN	0	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		6	873	+	A	A	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Missense_Mutation	273			Helical; Name=6; (Potential).			
SLC6A19	340024		GRCh37	5	1216774	1216774	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000304460.10:c.989C>T	p.Thr330Ile	p.T330I	ENST00000304460	NM_001003841.2	330	aCa/aTa	0																																																																																																																																																																																																																																												
SLC6A20	54716	broad.mit.edu	GRCh37	3	45814090	45814090	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2564-01	TCGA-06-2564-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358525.4:c.600G>A	p.Ala200=	p.A200=	ENST00000358525	NM_020208.3	200	gcG/gcA	0			1			T	A	uc011bai.1	protein_coding	YES	CCDS43077.1			600/1779									ovary(2)	2	c.(598-600)GCG>GCA			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF44,Pfam_domain:PF00209,Superfamily_domains:0053687,Prints_domain:PR00176	solute carrier family 6, member 20 isoform 1				ENSP00000346298		11-May	4.13E-05	0.000218				3.14E-05		6.41E-05	rs780083357,COSM1423328	11-May	.		ENST00000358525	Transcript	1		cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	ENSG00000163817	g.chr3:45814090C>T	30927			LOW								--	--	1																																		SLC6A20_uc003cow.2_5'Flank|SLC6A20_uc011baj.1_Intron	0,1	1			p.A200A	NM_020208	NP_064593			0,1	S6A20_HUMAN	SLC6A20	HGNC	Q9NP91	S6A20_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)			5	724	-			UPI0000046064	200			Helical; Name=5; (Potential).		SNV	SLC6A20,synonymous_variant,p.=,ENST00000358525,NM_020208.3;SLC6A20,synonymous_variant,p.=,ENST00000456124,;SLC6A20,synonymous_variant,p.=,ENST00000413781,;SLC6A20,intron_variant,,ENST00000353278,NM_022405.3;SLC6A20,upstream_gene_variant,,ENST00000473146,;	uc011bai.1	c.600G>A	716/5423	1	1			c.600G>A						3	SNP	c.(598-600)GCG>GCA	4	4			ovary(2)	2	Broad	solute carrier family 6, member 20 isoform 1			45814090		0.597	ENSG00000163817	14456	g.chr3:45814090C>T	cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity							44.487213	KEEP	8	9	-1	23	16	8	9	-1	46.1978	23	16	0.307692	1	0	0	0	0	0	0	1	0	--	--		0	T			SLC6A20_uc003cow.2_5'Flank|SLC6A20_uc011baj.1_Intron	87	GBM-06-2564-TP	p.A200A	C	AGGGCAGTGACGCCGTGAAAT	NM_020208	NP_064593	45814090	Q9NP91	S6A20_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	5	724	-	T	T			Silent	200			Helical; Name=5; (Potential).			
SLC6A20	54716	broad.mit.edu	GRCh37	3	45800488	45800488	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5413-01	TCGA-06-5413-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358525.4:c.1761C>T	p.Asp587=	p.D587=	ENST00000358525	NM_020208.3	587	gaC/gaT	0			1			A	D	uc011bai.1	protein_coding	YES	CCDS43077.1			1761/1779									ovary(2)	2	c.(1759-1761)GAC>GAT			hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF44	solute carrier family 6, member 20 isoform 1				ENSP00000346298		11-Nov	9.88E-05			0.000116		7.63E-05		0.000406	rs760406850,COSM1309163,COSM1309162	11-Nov	common_variant		ENST00000358525	Transcript	1		cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	ENSG00000163817	g.chr3:45800488G>A	30927			LOW								--	--	1																																		SLC6A20_uc003cow.2_Silent_p.D237D|SLC6A20_uc011baj.1_Silent_p.D550D	0,1,1	1			p.D587D	NM_020208	NP_064593			0,1,1	S6A20_HUMAN	SLC6A20	HGNC	Q9NP91	S6A20_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)			11	1885	-			UPI0000046064	587			Cytoplasmic (Potential).		SNV	SLC6A20,synonymous_variant,p.=,ENST00000358525,NM_020208.3;SLC6A20,synonymous_variant,p.=,ENST00000353278,NM_022405.3;SLC6A20,intron_variant,,ENST00000456124,;SLC6A20,downstream_gene_variant,,ENST00000493980,;SLC6A20,non_coding_transcript_exon_variant,,ENST00000473146,;	uc011bai.1	c.1761C>T	1877/5423	2	2			c.1761C>T						3	SNP	c.(1759-1761)GAC>GAT	34	34			ovary(2)	2	Broad	solute carrier family 6, member 20 isoform 1			45800488		0.577	ENSG00000163817	14456	g.chr3:45800488G>A	cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity							54.112695	KEEP	7	17	-1	19	36	7	17	-1	56.786301	19	36	0.295775	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC6A20_uc003cow.2_Silent_p.D237D|SLC6A20_uc011baj.1_Silent_p.D550D	96	GBM-06-5413-TP	p.D587D	G	CGGGGTCTGCGTCTCCCCTCT	NM_020208	NP_064593	45800488	Q9NP91	S6A20_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	11	1885	-	A	A			Silent	587			Cytoplasmic (Potential).			
SLC6A3	6531	broad.mit.edu	GRCh37	5	1422128	1422128	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000270349.9:c.655C>T	p.Arg219Cys	p.R219C	ENST00000270349	NM_001044.4	219	Cgt/Tgt	0			1			A	R/C	uc003jck.2	protein_coding	YES	CCDS3863.1			655/1863									ovary(3)|breast(2)|pancreas(1)	6	c.(655-657)CGT>TGT			Superfamily_domains:0053687,Pfam_domain:PF00209,hmmpanther:PTHR11616:SF38,hmmpanther:PTHR11616,PROSITE_profiles:PS50267	solute carrier family 6 (neurotransmitter	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)			ENSP00000270349		15-May									COSM1063617	15-May	.		ENST00000270349	Transcript	1		cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		ENSG00000142319	g.chr5:1422128G>A	11049			MODERATE		3.69	high	getma.org/?cm=msa&ty=f&p=SC6A3_HUMAN&rb=60&re=583&var=R219C	getma.org/pdb.php?prot=SC6A3_HUMAN&from=60&to=583&var=R219C	getma.org/?cm=var&var=hg19,5,1422128,G,A&fts=all	R219C	--	--	1																																			1	1		probably_damaging(0.999)	p.R219C	NM_001044	NP_001035		deleterious(0)	1	SC6A3_HUMAN	SLC6A3	HGNC	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Q6LC27_HUMAN,H0YBA7_HUMAN		5	776	-			UPI000013548F	219			Extracellular (Potential).		SNV	SLC6A3,missense_variant,p.Arg219Cys,ENST00000270349,NM_001044.4;SLC6A3,missense_variant,p.Arg219Cys,ENST00000453492,;SLC6A3,missense_variant,p.Arg145Cys,ENST00000513308,;	uc003jck.2	c.655C>T	783/3932	1	1			c.655C>T						5	SNP	c.(655-657)CGT>TGT	55	55			ovary(3)|breast(2)|pancreas(1)	6	Broad	solute carrier family 6 (neurotransmitter		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	1422128		0.667	ENSG00000142319	14457	g.chr5:1422128G>A	cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body								59.15823	KEEP	14	14	-1	39	26	14	14	-1	62.77988	39	26	0.282353	1	0	0	0	0	1	0	0	0	--	--		0	A				23	GBM-06-0145-TP	p.R219C	G	AGCACGCCACGTCTGCAGAGG	NM_001044	NP_001035	1422128	Q01959	SC6A3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		5	776	-	A	A			Missense_Mutation	219			Extracellular (Potential).			
SLC6A3	0	broad.mit.edu	GRCh37	5	1403128	1403128	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs28364997	byFrequency	TCGA-26-5132-01	TCGA-26-5132-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000270349.9:c.1676C>T	p.Ala559Val	p.A559V	ENST00000270349	NM_001044.4	559	gCg/gTg	0	A:0.0005	A:0	1	A:0		A	A/V	uc003jck.2	protein_coding	YES	CCDS3863.1			1676/1863									ovary(3)|breast(2)|pancreas(1)	6	c.(1675-1677)GCG>GTG			Transmembrane_helices:TMhelix,Superfamily_domains:0053687,Pfam_domain:PF00209,hmmpanther:PTHR11616:SF38,hmmpanther:PTHR11616,PROSITE_profiles:PS50267	solute carrier family 6 (neurotransmitter	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	A:0	A:0.0008	ENSP00000270349	A:0.001	13/15	0.000412	0.000294	8.72E-05			0.000654		0.000182	rs28364997,COSM1434903	13/15	common_variant		ENST00000270349	Transcript	1	A:0.0002	cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		ENSG00000142319	g.chr5:1403128G>A	11049			MODERATE		-0.145	neutral	getma.org/?cm=msa&ty=f&p=SC6A3_HUMAN&rb=60&re=583&var=A559V	NA	getma.org/?cm=var&var=hg19,5,1403128,G,A&fts=all	A559V	--	--	1																																			0,1	1	19590515	benign(0.001)	p.A559V	NM_001044	NP_001035	A:0	tolerated(0.69)	0,1	SC6A3_HUMAN	SLC6A3	HGNC	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Q6LC27_HUMAN,H0YBA7_HUMAN		13	1797	-			UPI000013548F	559					SNV	SLC6A3,missense_variant,p.Ala559Val,ENST00000270349,NM_001044.4;SLC6A3,missense_variant,p.Ala559Val,ENST00000453492,;SLC6A3,upstream_gene_variant,,ENST00000512002,;	uc003jck.2	c.1676C>T	1804/3932	2	2			c.1676C>T						5	SNP	c.(1675-1677)GCG>GTG	26	26			ovary(3)|breast(2)|pancreas(1)	6	Broad	solute carrier family 6 (neurotransmitter		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	1403128		0.602	ENSG00000142319	14457	g.chr5:1403128G>A	cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body								98.03322	KEEP	16	21	-1	30	22	16	21	-1	98.555281	30	22	0.414634	1	0	0	0	0	1	0	0	0	--	--		0	A				181	GBM-26-5132-TP	p.A559V	G	CCAGCCCAGCGCGTTGGCCCA	NM_001044	NP_001035	1403128	Q01959	SC6A3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		13	1797	-	A	A			Missense_Mutation	559						
SLC6A3	0	broad.mit.edu	GRCh37	5	1409844	1409844	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140401978		TCGA-28-1747-01	TCGA-28-1747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000270349.9:c.1390G>A	p.Val464Ile	p.V464I	ENST00000270349	NM_001044.4	464	Gtc/Atc	0	T:0.0005		1			T	V/I	uc003jck.2	protein_coding	YES	CCDS3863.1			1390/1863									ovary(3)|breast(2)|pancreas(1)	6	c.(1390-1392)GTC>ATC			Transmembrane_helices:TMhelix,Superfamily_domains:0053687,Pfam_domain:PF00209,hmmpanther:PTHR11616:SF38,hmmpanther:PTHR11616,PROSITE_profiles:PS50267	solute carrier family 6 (neurotransmitter	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)		T:0.0006	ENSP00000270349		15-Oct	0.000379	0.000194	8.66E-05			0.000653			rs140401978,COSM3409953	15-Oct	common_variant		ENST00000270349	Transcript	1		cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		ENSG00000142319	g.chr5:1409844C>T	11049			MODERATE		1.03	low	getma.org/?cm=msa&ty=f&p=SC6A3_HUMAN&rb=60&re=583&var=V464I	getma.org/pdb.php?prot=SC6A3_HUMAN&from=60&to=583&var=V464I	getma.org/?cm=var&var=hg19,5,1409844,C,T&fts=all	V464I	--	--	1																																			0,1	1		benign(0.376)	p.V464I	NM_001044	NP_001035		tolerated(0.21)	0,1	SC6A3_HUMAN	SLC6A3	HGNC	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Q6LC27_HUMAN,H0YBA7_HUMAN		10	1511	-			UPI000013548F	464			Helical; Name=9; (Potential).		SNV	SLC6A3,missense_variant,p.Val464Ile,ENST00000270349,NM_001044.4;SLC6A3,missense_variant,p.Val464Ile,ENST00000453492,;	uc003jck.2	c.1390G>A	1518/3932	2	2			c.1390G>A						5	SNP	c.(1390-1392)GTC>ATC	47	47			ovary(3)|breast(2)|pancreas(1)	6	Broad	solute carrier family 6 (neurotransmitter		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	1409844		0.612	ENSG00000142319	14457	g.chr5:1409844C>T	cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body								100.143943	KEEP	20	24	-1	47	44	20	24	-1	103.384563	47	44	0.321739	1	0	0	0	0	1	0	0	0	--	--		0	T				206	GBM-28-1747-TP	p.V464I	C	ACGTTGGTGACGCAGAACAGG	NM_001044	NP_001035	1409844	Q01959	SC6A3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		10	1511	-	T	T			Missense_Mutation	464			Helical; Name=9; (Potential).			
SLC6A3	0	broad.mit.edu	GRCh37	5	1422074	1422074	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01	TCGA-76-4934-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000270349.9:c.709C>T	p.Arg237Trp	p.R237W	ENST00000270349	NM_001044.4	237	Cgg/Tgg	0	A:0.0002		1			A	R/W	uc003jck.2	protein_coding	YES	CCDS3863.1			709/1863									ovary(3)|breast(2)|pancreas(1)	6	c.(709-711)CGG>TGG			Superfamily_domains:0053687,Pfam_domain:PF00209,hmmpanther:PTHR11616:SF38,hmmpanther:PTHR11616,PROSITE_profiles:PS50267	solute carrier family 6 (neurotransmitter	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)		A:0	ENSP00000270349		15-May									rs376877303,COSM3409960	15-May	.		ENST00000270349	Transcript	1		cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		ENSG00000142319	g.chr5:1422074G>A	11049			MODERATE		3.655	high	getma.org/?cm=msa&ty=f&p=SC6A3_HUMAN&rb=60&re=583&var=R237W	getma.org/pdb.php?prot=SC6A3_HUMAN&from=60&to=583&var=R237W	getma.org/?cm=var&var=hg19,5,1422074,G,A&fts=all	R237W	--	--	1																																			0,1	1		probably_damaging(0.989)	p.R237W	NM_001044	NP_001035		deleterious(0)	0,1	SC6A3_HUMAN	SLC6A3	HGNC	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Q6LC27_HUMAN,H0YBA7_HUMAN		5	830	-			UPI000013548F	237			Extracellular (Potential).		SNV	SLC6A3,missense_variant,p.Arg237Trp,ENST00000270349,NM_001044.4;SLC6A3,missense_variant,p.Arg237Trp,ENST00000453492,;SLC6A3,missense_variant,p.Arg163Trp,ENST00000513308,;	uc003jck.2	c.709C>T	837/3932	2	2			c.709C>T						5	SNP	c.(709-711)CGG>TGG	29	29			ovary(3)|breast(2)|pancreas(1)	6	Broad	solute carrier family 6 (neurotransmitter		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	1422074		0.657	ENSG00000142319	14457	g.chr5:1422074G>A	cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body								203.806409	KEEP	37	50	-1	71	61	37	50	-1	205.894309	71	61	0.388601	1	0	0	0	0	1	0	0	0	--	--		0	A				272	GBM-76-4934-TP	p.R237W	G	AGCTGCCACCGCGGAGGCCCC	NM_001044	NP_001035	1422074	Q01959	SC6A3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		5	830	-	A	A			Missense_Mutation	237			Extracellular (Potential).			
SLC6A4	0	broad.mit.edu	GRCh37	17	28537542	28537542	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-1439-01	TCGA-26-1439-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261707.3:c.1440C>T	p.Thr480=	p.T480=	ENST00000261707	NM_001045.5	480	acC/acT	0			1			A	T	uc002hey.3	protein_coding		CCDS11256.1			1440/1893									skin(3)|ovary(1)	4	c.(1438-1440)ACC>ACT			Superfamily_domains:0053687,Pfam_domain:PF00209,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF105,Transmembrane_helices:TMhelix	solute carrier family 6 member 4	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)			ENSP00000261707		15-Nov									COSM2156884	15-Nov	.		ENST00000261707	Transcript	1		response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	ENSG00000108576	g.chr17:28537542G>A	11050			LOW								--	--	1																																		SLC6A4_uc010csg.2_RNA	1				p.T480T	NM_001045	NP_001036			1	SC6A4_HUMAN	SLC6A4	HGNC	P31645	SC6A4_HUMAN			Q9NYN7_HUMAN,J3KPR9_HUMAN,B3VRW0_HUMAN,B3VRV5_HUMAN,B3VRV0_HUMAN,B3VRU5_HUMAN,B3VRU0_HUMAN,B3VRS5_HUMAN,B3VRS0_HUMAN,B3VRR5_HUMAN,B3VRR0_HUMAN,B3VRQ5_HUMAN,B3VRQ0_HUMAN		11	1984	-			UPI0000135493	480			Helical; Name=9; (Potential).		SNV	SLC6A4,synonymous_variant,p.=,ENST00000401766,;SLC6A4,synonymous_variant,p.=,ENST00000261707,NM_001045.5;SLC6A4,synonymous_variant,p.=,ENST00000394821,;RP11-354P11.4,downstream_gene_variant,,ENST00000581633,;SLC6A4,synonymous_variant,p.=,ENST00000579221,;	uc002hey.3	c.1440C>T	1984/4516	1	1			c.1440C>T						17	SNP	c.(1438-1440)ACC>ACT	56	56			skin(3)|ovary(1)	4	Broad	solute carrier family 6 member 4		Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	28537542		0.582	ENSG00000108576	14458	g.chr17:28537542G>A	response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity							116.082106	KEEP	22	26	-1	47	54	22	26	-1	120.108436	47	54	0.315789	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC6A4_uc010csg.2_RNA	179	GBM-26-1439-TP	p.T480T	G	CAAAAGTCAGGGTGACCAGGG	NM_001045	NP_001036	28537542	P31645	SC6A4_HUMAN	0			11	1984	-	A	A			Silent	480			Helical; Name=9; (Potential).			
SLC6A5	0	broad.mit.edu	GRCh37	11	20648387	20648387	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	rs146647574	byFrequency	TCGA-32-1979-01	TCGA-32-1979-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000525748.1:c.1394C>T	p.Thr465Met	p.T465M	ENST00000525748	NM_004211.3	465	aCg/aTg	0	T:0.0007		1			T	T/M	uc001mqd.2	protein_coding	YES	CCDS7854.1			1394/2394									ovary(2)|breast(1)|skin(1)	4	c.(1393-1395)ACG>ATG			PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF107,Pfam_domain:PF00209,Superfamily_domains:0053687	solute carrier family 6 (neurotransmitter	Glycine(DB00145)		T:0.0002	ENSP00000434364		16-Aug	0.000115	0.000961				5.99E-05			rs146647574,COSM3397613	16-Aug	common_variant		ENST00000525748	Transcript	1		synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	ENSG00000165970	g.chr11:20648387C>T	11051			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=SC6A5_HUMAN&rb=191&re=740&var=T465M	getma.org/pdb.php?prot=SC6A5_HUMAN&from=191&to=740&var=T465M	getma.org/?cm=var&var=hg19,11,20648387,C,T&fts=all	T465M	--	--	1																																		SLC6A5_uc009yic.2_Missense_Mutation_p.T230M	0,1	1		benign(0.028)	p.T465M	NM_004211	NP_004202		tolerated(0.29)	0,1	SC6A5_HUMAN	SLC6A5	HGNC	Q9Y345	SC6A5_HUMAN					8	1667	+			UPI00004564A5	465					SNV	SLC6A5,missense_variant,p.Thr465Met,ENST00000525748,NM_004211.3;SLC6A5,upstream_gene_variant,,ENST00000528440,;SLC6A5,splice_region_variant,,ENST00000298923,;	uc001mqd.2	c.1394C>T	1667/7084	2	2			c.1394C>T						11	SNP	c.(1393-1395)ACG>ATG	43	43			ovary(2)|breast(1)|skin(1)	4	Broad	solute carrier family 6 (neurotransmitter		Glycine(DB00145)	20648387		0.562	ENSG00000165970	14459	g.chr11:20648387C>T	synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity							-11.971374	KEEP	3	3	-1	40	72	3	3	-1	10.306729	40	72	0.048544	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC6A5_uc009yic.2_Missense_Mutation_p.T230M	230	GBM-32-1979-TP	p.T465M	C	ACGGATGCCACGGTGGGCTTC	NM_004211	NP_004202	20648387	Q9Y345	SC6A5_HUMAN	0			8	1667	+	T	T			Missense_Mutation	465						
SLC6A6	6533	broad.mit.edu	GRCh37	3	14509599	14509599	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0879-01	TCGA-06-0879-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000454876.2:c.975C>A	p.Asp325Glu	p.D325E	ENST00000454876	NM_001134367.2	325	gaC/gaA	0			1			A	D/E	uc010heg.2	protein_coding	YES	CCDS33705.1			975/1863									ovary(1)	1	c.(973-975)GAC>GAA			PROSITE_profiles:PS50267,hmmpanther:PTHR11616:SF116,hmmpanther:PTHR11616,Pfam_domain:PF00209,Superfamily_domains:0053687	solute carrier family 6 (neurotransmitter				ENSP00000398063		15-Sep									COSM2152276	15-Sep	.		ENST00000454876	Transcript			cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	ENSG00000131389	g.chr3:14509599C>A	11052			MODERATE		4.445	high	getma.org/?cm=msa&ty=f&p=SC6A6_HUMAN&rb=41&re=568&var=D325E	getma.org/pdb.php?prot=SC6A6_HUMAN&from=41&to=568&var=D325E	getma.org/?cm=var&var=hg19,3,14509599,C,A&fts=all	D325E	--	--	1																																OREG0015421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	SLC6A6_uc003byq.2_Missense_Mutation_p.D325E|SLC6A6_uc003byr.2_Intron	1	1		possibly_damaging(0.734)	p.D325E	NM_001134367	NP_001127839		deleterious(0)	1	SC6A6_HUMAN	SLC6A6	HGNC	P31641	SC6A6_HUMAN			C9JPV1_HUMAN		16	1266	+			UPI000013549A	325					SNV	SLC6A6,missense_variant,p.Asp325Glu,ENST00000454876,NM_001134367.2,NM_003043.4;SLC6A6,missense_variant,p.Asp325Glu,ENST00000360861,;SLC6A6,upstream_gene_variant,,ENST00000452151,;SLC6A6,intron_variant,,ENST00000458124,;SLC6A6,intron_variant,,ENST00000427436,;	uc010heg.2	c.975C>A	1304/6534	1	1			c.975C>A						3	SNP	c.(973-975)GAC>GAA	50	50			ovary(1)	1	Broad	solute carrier family 6 (neurotransmitter			14509599		0.453	ENSG00000131389	14460	g.chr3:14509599C>A	cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity							284.903587	KEEP	56	53	0.486238532	89	87	56	53	0.486238532	288.024062	89	87	0.379592	1	0	0	0	0	1	0	0	0	--	--		0	A	OREG0015421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	SLC6A6_uc003byq.2_Missense_Mutation_p.D325E|SLC6A6_uc003byr.2_Intron	75	GBM-06-0879-TP	p.D325E	C	AACTTAGGGACTGTATGCTGC	NM_001134367	NP_001127839	14509599	P31641	SC6A6_HUMAN	0			16	1266	+	A	A			Missense_Mutation	325						
SLC6A6	0	broad.mit.edu	GRCh37	3	14513770	14513770	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-14-3476-01	TCGA-14-3476-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000454876.2:c.1154C>G	p.Thr385Arg	p.T385R	ENST00000454876	NM_001134367.2	385	aCa/aGa	0			1			G	T/R	uc010heg.2	protein_coding	YES	CCDS33705.1			1154/1863									ovary(1)	1	c.(1153-1155)ACA>AGA			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616:SF116,hmmpanther:PTHR11616,Pfam_domain:PF00209,Superfamily_domains:0053687,Prints_domain:PR00176	solute carrier family 6 (neurotransmitter				ENSP00000398063		15-Oct									COSM3408310	15-Oct	.		ENST00000454876	Transcript			cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	ENSG00000131389	g.chr3:14513770C>G	11052			MODERATE		1.68	low	getma.org/?cm=msa&ty=f&p=SC6A6_HUMAN&rb=41&re=568&var=T385R	getma.org/pdb.php?prot=SC6A6_HUMAN&from=41&to=568&var=T385R	getma.org/?cm=var&var=hg19,3,14513770,C,G&fts=all	T385R	--	--	1																																		SLC6A6_uc003byq.2_Missense_Mutation_p.T385R|SLC6A6_uc003byr.2_RNA	1	1		probably_damaging(0.931)	p.T385R	NM_001134367	NP_001127839		deleterious(0.01)	1	SC6A6_HUMAN	SLC6A6	HGNC	P31641	SC6A6_HUMAN			C9JPV1_HUMAN		17	1445	+			UPI000013549A	385			Helical; Name=8; (Potential).		SNV	SLC6A6,missense_variant,p.Thr385Arg,ENST00000454876,NM_001134367.2,NM_003043.4;SLC6A6,missense_variant,p.Thr385Arg,ENST00000360861,;SLC6A6,missense_variant,p.Thr8Arg,ENST00000452151,;SLC6A6,missense_variant,p.His343Gln,ENST00000458124,;SLC6A6,missense_variant,p.His343Gln,ENST00000427436,;	uc010heg.2	c.1154C>G	1483/6534	3	3			c.1154C>G						3	SNP	c.(1153-1155)ACA>AGA	51	51			ovary(1)	1	Broad	solute carrier family 6 (neurotransmitter			14513770		0.537	ENSG00000131389	14460	g.chr3:14513770C>G	cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity							141.660346	KEEP	22	28	-1	65	67	22	28	-1	148.728	65	67	0.275641	1	0	0	0	0	1	0	0	0	--	--		0	G			SLC6A6_uc003byq.2_Missense_Mutation_p.T385R|SLC6A6_uc003byr.2_RNA	151	GBM-14-3476-TP	p.T385R	C	CCGCTGCCCACATTTTGGTCC	NM_001134367	NP_001127839	14513770	P31641	SC6A6_HUMAN	0			17	1445	+	G	G			Missense_Mutation	385			Helical; Name=8; (Potential).			
SLC7A10	0	broad.mit.edu	GRCh37	19	33706697	33706697	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01	TCGA-16-0846-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000253188.4:c.334G>A	p.Glu112Lys	p.E112K	ENST00000253188	NM_019849.2	112	Gag/Aag	0			1			T	E/K	uc002num.2	protein_coding	YES	CCDS12431.1			334/1572									ovary(1)|central_nervous_system(1)	2	c.(334-336)GAG>AAG			Pfam_domain:PF13520,PIRSF_domain:PIRSF006060,hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF73	solute carrier family 7, member 10				ENSP00000253188		11-Feb									COSM3404090	11-Feb	.		ENST00000253188	Transcript			blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity	ENSG00000130876	g.chr19:33706697C>T	11058			MODERATE		1.475	low	getma.org/?cm=msa&ty=f&p=AAA1_HUMAN&rb=40&re=468&var=E112K	getma.org/pdb.php?prot=AAA1_HUMAN&from=40&to=468&var=E112K	getma.org/?cm=var&var=hg19,19,33706697,C,T&fts=all	E112K	--	--	1																																		SLC7A10_uc010xrq.1_Intron	1	1		possibly_damaging(0.472)	p.E112K	NM_019849	NP_062823		deleterious(0)	1	AAA1_HUMAN	SLC7A10	HGNC	Q9NS82	AAA1_HUMAN					2	481	-	Esophageal squamous(110;0.137)		UPI0000001C3E	112		E -> D (in a family with cystinuria).			SNV	SLC7A10,missense_variant,p.Glu112Lys,ENST00000253188,NM_019849.2;CTD-2540B15.6,upstream_gene_variant,,ENST00000590492,;SLC7A10,missense_variant,p.Glu112Lys,ENST00000590036,;SLC7A10,intron_variant,,ENST00000592596,;SLC7A10,intron_variant,,ENST00000587064,;SLC7A10,upstream_gene_variant,,ENST00000590490,;	uc002num.2	c.334G>A	481/1946	2	2			c.334G>A						19	SNP	c.(334-336)GAG>AAG	47	47			ovary(1)|central_nervous_system(1)	2	Broad	solute carrier family 7, member 10			33706697		0.657	ENSG00000130876	14465	g.chr19:33706697C>T	blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity							8.622693	KEEP	0	4	-1	4	2	0	4	-1	8.732562	4	2	0.375	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC7A10_uc010xrq.1_Intron	155	GBM-16-0846-TP	p.E112K	C	CCGAAGATCTCTGTGACGTAG	NM_019849	NP_062823	33706697	Q9NS82	AAA1_HUMAN	0			2	481	-	T	T	Esophageal squamous(110;0.137)		Missense_Mutation	112		E -> D (in a family with cystinuria).				
SLC7A13	0	broad.mit.edu	GRCh37	8	87235301	87235301	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-19-2629-01	TCGA-19-2629-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297524.3:c.717delC	p.Lys240AsnfsTer10	p.K240Nfs*10	ENST00000297524	NM_138817.2	239	ccC/cc	0			1			-	P/X	uc003ydq.1	protein_coding	YES	CCDS34917.1			717/1413									central_nervous_system(1)	1	c.(715-717)CCCfs			hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF238,Pfam_domain:PF13520,PIRSF_domain:PIRSF006060	solute carrier family 7, (cationic amino acid				ENSP00000297524		4-Feb										4-Feb	.		ENST00000297524	Transcript				integral to membrane	amino acid transmembrane transporter activity	ENSG00000164893	g.chr8:87235301delG	23092			HIGH								--	--	1																																		SLC7A13_uc003ydr.1_Frame_Shift_Del_p.P230fs		1			p.P239fs	NM_138817	NP_620172				S7A13_HUMAN	SLC7A13	HGNC	Q8TCU3	S7A13_HUMAN					2	815	-			UPI000006DF39	239			Cytoplasmic (Potential).		deletion	SLC7A13,frameshift_variant,p.Lys240AsnfsTer10,ENST00000297524,NM_138817.2;SLC7A13,frameshift_variant,p.Lys231AsnfsTer10,ENST00000419776,;SLC7A13,non_coding_transcript_exon_variant,,ENST00000520624,;	uc003ydq.1	c.717delC	821/1878	5	5			c.717delC						8	DEL	c.(715-717)CCCfs	34	34			central_nervous_system(1)	1	Broad	solute carrier family 7, (cationic amino acid			87235301		0.358	ENSG00000164893	14467	g.chr8:87235301delG		integral to membrane	amino acid transmembrane transporter activity																				0.09	1	1	0	1	0	0	0	0	0	--	--		0	-			SLC7A13_uc003ydr.1_Frame_Shift_Del_p.P230fs	166	GBM-19-2629-TP	p.P239fs	G	ATATGCATTTGGGAATTGTTG	NM_138817	NP_620172	87235301	Q8TCU3	S7A13_HUMAN	0			2	815	-	-	-			Frame_Shift_Del	239			Cytoplasmic (Potential).			
SLC7A13	0	broad.mit.edu	GRCh37	8	87229698	87229698	+	splice_donor_variant	Splice_Site	SNP	C	C	T	rs139960114		TCGA-32-4213-01	TCGA-32-4213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297524.3:c.1179+1G>A		p.X393_splice	ENST00000297524	NM_138817.2			0	T:0		1			T		uc003ydq.1	protein_coding	YES	CCDS34917.1			1179/1413									central_nervous_system(1)	1	c.e3+1				solute carrier family 7, (cationic amino acid			T:0.0001	ENSP00000297524			3.30E-05					1.91E-05		0.000127	rs139960114,COSM3413149,COSM3413150		.		ENST00000297524	Transcript				integral to membrane	amino acid transmembrane transporter activity	ENSG00000164893	g.chr8:87229698C>T	23092			HIGH	3-Mar							--	--	1																																		SLC7A13_uc003ydr.1_Splice_Site_p.K384_splice	0,1,1	1			p.K393_splice	NM_138817	NP_620172			0,1,1	S7A13_HUMAN	SLC7A13	HGNC	Q8TCU3	S7A13_HUMAN					3	1277	-			UPI000006DF39						SNV	SLC7A13,splice_donor_variant,,ENST00000297524,NM_138817.2;SLC7A13,splice_donor_variant,,ENST00000419776,;SLC7A13,downstream_gene_variant,,ENST00000520624,;	uc003ydq.1	c.1179_splice	-/1878	5	2			c.1179_splice						8	SNP	c.e3+1	32	32			central_nervous_system(1)	1	Broad	solute carrier family 7, (cationic amino acid			87229698		0.289	ENSG00000164893	14467	g.chr8:87229698C>T		integral to membrane	amino acid transmembrane transporter activity							22.558537	KEEP	5	6	-1	9	20	5	6	-1	24.260791	9	20	0.264706	1	0	0	0	0	0	0	0	1	--	--		0	T			SLC7A13_uc003ydr.1_Splice_Site_p.K384_splice	247	GBM-32-4213-TP	p.K393_splice	C	TCCAATTTTACCTTATAAGGT	NM_138817	NP_620172	87229698	Q8TCU3	S7A13_HUMAN	0			3	1277	-	T	T			Splice_Site							
SLC7A14	0	broad.mit.edu	GRCh37	3	170198876	170198876	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01	TCGA-14-3476-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000231706.5:c.1195G>T	p.Ala399Ser	p.A399S	ENST00000231706	NM_020949.2	399	Gca/Tca	0			1			A	A/S	uc003fgz.2	protein_coding	YES	CCDS33892.1			1195/2316									ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	c.(1195-1197)GCA>TCA			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Pfam_domain:PF13520,hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF250	solute carrier family 7 (cationic amino acid				ENSP00000231706		8-Jul	8.24E-06	9.63E-05							rs768048013,COSM3408421	8-Jul	.		ENST00000231706	Transcript	1			integral to membrane	amino acid transmembrane transporter activity	ENSG00000013293	g.chr3:170198876C>A	29326			MODERATE		1.55	low	getma.org/?cm=msa&ty=f&p=S7A14_HUMAN&rb=53&re=445&var=A399S	getma.org/pdb.php?prot=S7A14_HUMAN&from=53&to=445&var=A399S	getma.org/?cm=var&var=hg19,3,170198876,C,A&fts=all	A399S	--	--	1																																		CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	0,1	1		benign(0.369)	p.A399S	NM_020949	NP_066000		tolerated(0.35)	0,1	S7A14_HUMAN	SLC7A14	HGNC	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)				7	1511	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		UPI0000051F6B	399			Helical; (Potential).		SNV	SLC7A14,missense_variant,p.Ala399Ser,ENST00000231706,NM_020949.2;CLDN11,intron_variant,,ENST00000486975,;CLDN11,intron_variant,,ENST00000451576,;CLDN11,intron_variant,,ENST00000480067,;CLDN11,intron_variant,,ENST00000471373,;	uc003fgz.2	c.1195G>T	1511/10103	1	1			c.1195G>T						3	SNP	c.(1195-1197)GCA>TCA	61	61			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	Broad	solute carrier family 7 (cationic amino acid			170198876		0.592	ENSG00000013293	14468	g.chr3:170198876C>A		integral to membrane	amino acid transmembrane transporter activity							-19.197825	KEEP	2	2	0.5	50	74	2	2	0.5	8.442629	50	74	0.034188	1	0	0	0	0	1	0	0	0	--	--		0	A			CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	151	GBM-14-3476-TP	p.A399S	C	ACCAACAGTGCGAGGAGCGCT	NM_020949	NP_066000	170198876	Q8TBB6	S7A14_HUMAN	0	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		7	1511	-	A	A	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Missense_Mutation	399			Helical; (Potential).			
SLC7A2	0	broad.mit.edu	GRCh37	8	17422587	17422587	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01	TCGA-12-0821-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000494857.1:c.1909G>A	p.Ala637Thr	p.A637T	ENST00000494857	NM_001008539.3	637	Gca/Aca	0			1			A	A/T	uc011kyc.1	protein_coding		CCDS34852.1			1909/1977									ovary(2)|skin(1)	3	c.(1909-1911)GCA>ACA			hmmpanther:PTHR11785:SF242,hmmpanther:PTHR11785	solute carrier family 7, member 2 isoform 2	L-Lysine(DB00123)|L-Ornithine(DB00129)			ENSP00000419140		13/13									COSM3412887,COSM3412886	13/13	.		ENST00000494857	Transcript			cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	ENSG00000003989	g.chr8:17422587G>A	11060			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=CTR2_HUMAN&rb=607&re=658&var=A637T	NA	getma.org/?cm=var&var=hg19,8,17422587,G,A&fts=all	A637T	--	--	1																																		SLC7A2_uc011kyd.1_Missense_Mutation_p.A676T|SLC7A2_uc011kye.1_Missense_Mutation_p.A677T|SLC7A2_uc011kyf.1_Missense_Mutation_p.A637T	1,1			benign(0.001)	p.A637T	NM_001008539	NP_001008539		tolerated(0.44)	1,1	CTR2_HUMAN	SLC7A2	HGNC	P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)			12	2078	+			UPI000035CC54	637			Cytoplasmic (Potential).		SNV	SLC7A2,missense_variant,p.Ala676Thr,ENST00000470360,;SLC7A2,missense_variant,p.Ala637Thr,ENST00000494857,NM_001008539.3;SLC7A2,missense_variant,p.Ala677Thr,ENST00000004531,NM_001164771.1;SLC7A2,missense_variant,p.Ala676Thr,ENST00000398090,NM_003046.5;SLC7A2,missense_variant,p.Ala637Thr,ENST00000522656,;	uc011kyc.1	c.1909G>A	2127/7622	1	1			c.1909G>A						8	SNP	c.(1909-1911)GCA>ACA	64	64			ovary(2)|skin(1)	3	Broad	solute carrier family 7, member 2 isoform 2		L-Lysine(DB00123)|L-Ornithine(DB00129)	17422587		0.423	ENSG00000003989	14469	g.chr8:17422587G>A	cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity							110.449204	KEEP	28	19	-1	48	18	28	19	-1	111.555176	48	18	0.385417	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC7A2_uc011kyd.1_Missense_Mutation_p.A676T|SLC7A2_uc011kye.1_Missense_Mutation_p.A677T|SLC7A2_uc011kyf.1_Missense_Mutation_p.A637T	123	GBM-12-0821-TP	p.A637T	G	TGCCATTCAAGCAAATGACCA	NM_001008539	NP_001008539	17422587	P52569	CTR2_HUMAN	0		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	12	2078	+	A	A			Missense_Mutation	637			Cytoplasmic (Potential).			
SLC7A3	84889	broad.mit.edu	GRCh37	X	70148360	70148360	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0939-01	TCGA-06-0939-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374299.3:c.653A>G	p.Lys218Arg	p.K218R	ENST00000374299		218	aAg/aGg	0			1			C	K/R	uc004dyn.2	protein_coding		CCDS14404.1			653/1860									ovary(1)|kidney(1)	2	c.(652-654)AAG>AGG			Pfam_domain:PF13520,PIRSF_domain:PIRSF006060,hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF209,TIGRFAM_domain:TIGR00906	solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)			ENSP00000298085		12-Apr	8.25E-06		0.000192						rs756632457,COSM3406552	12-Apr	.		ENST00000298085	Transcript			cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		ENSG00000165349	g.chrX:70148360T>C	11061			MODERATE		1.66	low	getma.org/?cm=msa&ty=f&p=CTR3_HUMAN&rb=32&re=463&var=K218R	getma.org/pdb.php?prot=CTR3_HUMAN&from=32&to=463&var=K218R	getma.org/?cm=var&var=hg19,X,70148360,T,C&fts=all	K218R	--	--	1																																		SLC7A3_uc004dyo.2_Missense_Mutation_p.K218R	0,1			benign(0.042)	p.K218R	NM_032803	NP_116192		tolerated(0.14)	0,1	CTR3_HUMAN	SLC7A3	HGNC	Q8WY07	CTR3_HUMAN					4	811	-	Renal(35;0.156)		UPI0000049F96	218			Extracellular (Potential).		SNV	SLC7A3,missense_variant,p.Lys218Arg,ENST00000374299,;SLC7A3,missense_variant,p.Lys218Arg,ENST00000298085,NM_001048164.2,NM_032803.5;	uc004dyn.2	c.653A>G	803/2235	3	3			c.653A>G						23	SNP	c.(652-654)AAG>AGG	63	63			ovary(1)|kidney(1)	2	Broad	solute carrier family 7 (cationic amino acid		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	70148360		0.507	ENSG00000165349	14470	g.chrX:70148360T>C	cellular nitrogen compound metabolic process	integral to membrane|plasma membrane								-4.190116	KEEP	2	0	-1	26	25	2	0	-1	6.362758	26	25	0.042553	1	0	0	0	0	1	0	0	0	--	--		0	C			SLC7A3_uc004dyo.2_Missense_Mutation_p.K218R	78	GBM-06-0939-TP	p.K218R	T	TTCTGTGAGCTTCCAGTTGTG	NM_032803	NP_116192	70148360	Q8WY07	CTR3_HUMAN	0			4	811	-	C	C	Renal(35;0.156)		Missense_Mutation	218			Extracellular (Potential).			
SLC7A3	0	broad.mit.edu	GRCh37	X	70147393	70147393	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01	TCGA-41-3393-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298085.4:c.1124G>A	p.Arg375Gln	p.R375Q	ENST00000298085	NM_001048164.2	375	cGg/cAg	0			1			T	R/Q	uc004dyn.2	protein_coding		CCDS14404.1			1124/1860									ovary(1)|kidney(1)	2	c.(1123-1125)CGG>CAG			Pfam_domain:PF13520,PIRSF_domain:PIRSF006060,hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF209,TIGRFAM_domain:TIGR00906	solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)			ENSP00000298085		12-Jul									COSM3406551	12-Jul	.		ENST00000298085	Transcript			cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		ENSG00000165349	g.chrX:70147393C>T	11061			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=CTR3_HUMAN&rb=32&re=463&var=R375Q	getma.org/pdb.php?prot=CTR3_HUMAN&from=32&to=463&var=R375Q	getma.org/?cm=var&var=hg19,X,70147393,C,T&fts=all	R375Q	--	--	1																																		SLC7A3_uc004dyo.2_Missense_Mutation_p.R375Q	1			benign(0.037)	p.R375Q	NM_032803	NP_116192		tolerated(0.39)	1	CTR3_HUMAN	SLC7A3	HGNC	Q8WY07	CTR3_HUMAN					7	1282	-	Renal(35;0.156)		UPI0000049F96	375			Cytoplasmic (Potential).		SNV	SLC7A3,missense_variant,p.Arg375Gln,ENST00000374299,;SLC7A3,missense_variant,p.Arg375Gln,ENST00000298085,NM_001048164.2,NM_032803.5;	uc004dyn.2	c.1124G>A	1274/2235	2	2			c.1124G>A						23	SNP	c.(1123-1125)CGG>CAG	32	32			ovary(1)|kidney(1)	2	Broad	solute carrier family 7 (cationic amino acid		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	70147393		0.577	ENSG00000165349	14470	g.chrX:70147393C>T	cellular nitrogen compound metabolic process	integral to membrane|plasma membrane								18.503249	KEEP	6	6	-1	23	37	6	6	-1	25.669057	23	37	0.164179	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC7A3_uc004dyo.2_Missense_Mutation_p.R375Q	255	GBM-41-3393-TP	p.R375Q	C	GGTGTGGATCCGAGCAAGTAC	NM_032803	NP_116192	70147393	Q8WY07	CTR3_HUMAN	0			7	1282	-	T	T	Renal(35;0.156)		Missense_Mutation	375			Cytoplasmic (Potential).			
SLC7A4	0	broad.mit.edu	GRCh37	22	21384419	21384419	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-3476-01	TCGA-14-3476-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382932.2:c.1204T>C	p.Tyr402His	p.Y402H	ENST00000382932	NM_004173.2	402	Tac/Cac	0			1			G	Y/H	uc002zud.2	protein_coding	YES	CCDS33608.1			1204/1908									ovary(1)|lung(1)	2	c.(1204-1206)TAC>CAC			Transmembrane_helices:TMhelix,hmmpanther:PTHR11785:SF196,hmmpanther:PTHR11785,Pfam_domain:PF13520,PIRSF_domain:PIRSF006060	solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)			ENSP00000372390		5-Mar	1.65E-05					1.59E-05			rs766242077,COSM3405532	5-Mar	.		ENST00000382932	Transcript			cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity	ENSG00000099960	g.chr22:21384419A>G	11062			MODERATE		2.965	medium	getma.org/?cm=msa&ty=f&p=CTR4_HUMAN&rb=37&re=432&var=Y402H	getma.org/pdb.php?prot=CTR4_HUMAN&from=37&to=432&var=Y402H	getma.org/?cm=var&var=hg19,22,21384419,A,G&fts=all	Y402H	--	--	1																																		SLC7A4_uc002zue.2_Missense_Mutation_p.Y402H	0,1	1		probably_damaging(0.988)	p.Y402H	NM_004173	NP_004164		deleterious(0)	0,1	CTR4_HUMAN	SLC7A4	HGNC	O43246	CTR4_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		C9JM63_HUMAN		3	1272	-	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	UPI0000169EC7	402			Helical; (Potential).		SNV	SLC7A4,missense_variant,p.Tyr402His,ENST00000382932,NM_004173.2;SLC7A4,missense_variant,p.Tyr402His,ENST00000403586,;P2RX6,downstream_gene_variant,,ENST00000413302,;P2RX6,downstream_gene_variant,,ENST00000336296,NM_005446.3;P2RX6,downstream_gene_variant,,ENST00000402329,;P2RX6,downstream_gene_variant,,ENST00000443995,;P2RX6,downstream_gene_variant,,ENST00000401443,NM_001159554.1;SLC7A4,downstream_gene_variant,,ENST00000426145,;MIR649,downstream_gene_variant,,ENST00000384843,;AC002472.11,upstream_gene_variant,,ENST00000450652,;P2RX6,downstream_gene_variant,,ENST00000442475,;P2RX6,downstream_gene_variant,,ENST00000432930,;P2RX6,downstream_gene_variant,,ENST00000422210,;P2RX6,downstream_gene_variant,,ENST00000487342,;	uc002zud.2	c.1204T>C	1272/2313	3	3			c.1204T>C						22	SNP	c.(1204-1206)TAC>CAC	3	3			ovary(1)|lung(1)	2	Broad	solute carrier family 7 (cationic amino acid		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	21384419		0.657	ENSG00000099960	14471	g.chr22:21384419A>G	cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity							-1.076358	KEEP	0	2	-1	13	22	0	2	-1	6.40036	13	22	0.055556	1	0	0	0	0	1	0	0	0	--	--		0	G			SLC7A4_uc002zue.2_Missense_Mutation_p.Y402H	151	GBM-14-3476-TP	p.Y402H	A	ACGAATGTGTAGGCCAGGAGT	NM_004173	NP_004164	21384419	O43246	CTR4_HUMAN	0	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		3	1272	-	G	G	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	Missense_Mutation	402			Helical; (Potential).			
SLC7A5	8140	broad.mit.edu	GRCh37	16	87873313	87873313	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0879-01	TCGA-06-0879-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261622.4:c.934G>T	p.Ala312Ser	p.A312S	ENST00000261622	NM_003486.5	312	Gcc/Tcc	0			1			A	A/S	uc002fkm.2	protein_coding	YES	CCDS10964.1			934/1524										0	c.(934-936)GCC>TCC			Pfam_domain:PF13520,PIRSF_domain:PIRSF006060,hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF232,TIGRFAM_domain:TIGR00911	solute carrier family 7 (cationic amino acid				ENSP00000261622		10-May									COSM2152267	10-May	.		ENST00000261622	Transcript			blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding	ENSG00000103257	g.chr16:87873313C>A	11063			MODERATE		3.26	medium	getma.org/?cm=msa&ty=f&p=LAT1_HUMAN&rb=50&re=476&var=A312S	getma.org/pdb.php?prot=LAT1_HUMAN&from=50&to=476&var=A312S	getma.org/?cm=var&var=hg19,16,87873313,C,A&fts=all	A312S	--	--	1																																			1	1		probably_damaging(0.955)	p.A312S	NM_003486	NP_003477		deleterious(0)	1	LAT1_HUMAN	SLC7A5	HGNC	Q01650	LAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.049)			5	1006	-			UPI000000D9ED	312					SNV	SLC7A5,missense_variant,p.Ala312Ser,ENST00000261622,NM_003486.5;SLC7A5,missense_variant,p.Ala46Ser,ENST00000565644,;RP4-536B24.2,downstream_gene_variant,,ENST00000563687,;SLC7A5,upstream_gene_variant,,ENST00000563489,;	uc002fkm.2	c.934G>T	1000/4537	2	2			c.934G>T						16	SNP	c.(934-936)GCC>TCC	47	47				0	Broad	solute carrier family 7 (cationic amino acid			87873313		0.652	ENSG00000103257	14472	g.chr16:87873313C>A	blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding							80.929354	KEEP	15	21	0.583333333	17	26	15	21	0.583333333	80.933066	17	26	0.490909	1	0	0	0	0	1	0	0	0	--	--		0	A				75	GBM-06-0879-TP	p.A312S	C	CTCACCACGGCCACGGCCTCG	NM_003486	NP_003477	87873313	Q01650	LAT1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(80;0.049)	5	1006	-	A	A			Missense_Mutation	312						
SLC7A5	8140	broad.mit.edu	GRCh37	16	87873310	87873310	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261622.4:c.937G>A	p.Val313Met	p.V313M	ENST00000261622	NM_003486.5	313	Gtg/Atg	0			1			T	V/M	uc002fkm.2	protein_coding	YES	CCDS10964.1			937/1524										0	c.(937-939)GTG>ATG			Pfam_domain:PF13520,PIRSF_domain:PIRSF006060,hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF232,TIGRFAM_domain:TIGR00911	solute carrier family 7 (cationic amino acid				ENSP00000261622		10-May	1.65E-05					1.52E-05		6.06E-05	rs780213182,COSM3402537	10-May	.		ENST00000261622	Transcript			blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding	ENSG00000103257	g.chr16:87873310C>T	11063			MODERATE		2.81	medium	getma.org/?cm=msa&ty=f&p=LAT1_HUMAN&rb=50&re=476&var=V313M	getma.org/pdb.php?prot=LAT1_HUMAN&from=50&to=476&var=V313M	getma.org/?cm=var&var=hg19,16,87873310,C,T&fts=all	V313M	1.43	low	1																																			0,1	1		possibly_damaging(0.647)	p.V313M	NM_003486	NP_003477		deleterious(0.02)	0,1	LAT1_HUMAN	SLC7A5	HGNC	Q01650	LAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.049)			5	1009	-			UPI000000D9ED	313					SNV	SLC7A5,missense_variant,p.Val313Met,ENST00000261622,NM_003486.5;SLC7A5,missense_variant,p.Val47Met,ENST00000565644,;RP4-536B24.2,downstream_gene_variant,,ENST00000563687,;SLC7A5,upstream_gene_variant,,ENST00000563489,;	uc002fkm.2	c.937G>A	1003/4537	2	2			c.937G>A						16	SNP	c.(937-939)GTG>ATG	26	26				0	Broad	solute carrier family 7 (cationic amino acid			87873310		0.662	ENSG00000103257	14472	g.chr16:87873310C>T	blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding							183.300137	KEEP	32	33	-1	13	14	32	33	-1	186.305021	13	14	0.697674	1	0	0	0	0	1	0	0	0	1.43	low		0	T				102	GBM-06-5858-TP	p.V313M	C	CGGCTCACCACGGCCACGGCC	NM_003486	NP_003477	87873310	Q01650	LAT1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(80;0.049)	5	1009	-	T	T			Missense_Mutation	313						
SLC7A7	0	broad.mit.edu	GRCh37	14	23245049	23245049	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1832-01	TCGA-27-1832-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285850.7:c.991G>A	p.Ala331Thr	p.A331T	ENST00000285850		331	Gct/Act	0			1			T	A/T	uc001wgr.3	protein_coding		CCDS9574.1			991/1536									ovary(1)|breast(1)	2	c.(991-993)GCT>ACT			Transmembrane_helices:TMhelix,hmmpanther:PTHR11785:SF303,hmmpanther:PTHR11785,Pfam_domain:PF13520,PIRSF_domain:PIRSF006060	solute carrier family 7 member 7				ENSP00000285850		11-Jul									COSM3401233	11-Jul	.		ENST00000285850	Transcript	1		blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity	ENSG00000155465	g.chr14:23245049C>T	11065			MODERATE		1.8	low	getma.org/?cm=msa&ty=f&p=YLAT1_HUMAN&rb=37&re=456&var=A331T	getma.org/pdb.php?prot=YLAT1_HUMAN&from=37&to=456&var=A331T	getma.org/?cm=var&var=hg19,14,23245049,C,T&fts=all	A331T	--	--	1																																		SLC7A7_uc001wgs.3_Missense_Mutation_p.A331T|SLC7A7_uc001wgt.3_Missense_Mutation_p.A331T|SLC7A7_uc001wgu.3_Missense_Mutation_p.A331T|SLC7A7_uc001wgv.3_Missense_Mutation_p.A331T	1			possibly_damaging(0.904)	p.A331T	NM_003982	NP_003973		deleterious(0.04)	1	YLAT1_HUMAN	SLC7A7	HGNC	Q9UM01	YLAT1_HUMAN		GBM - Glioblastoma multiforme(265;0.00741)	G3V5W2_HUMAN,G3V5A1_HUMAN,G3V4Z6_HUMAN,G3V4U1_HUMAN,G3V362_HUMAN,G3V2L0_HUMAN,G3V2H8_HUMAN,G3V273_HUMAN,D6RFE5_HUMAN		6	1129	-	all_cancers(95;8.44e-05)		UPI000000CC04	331					SNV	SLC7A7,missense_variant,p.Ala331Thr,ENST00000397532,;SLC7A7,missense_variant,p.Ala331Thr,ENST00000555702,NM_001126106.2;SLC7A7,missense_variant,p.Ala331Thr,ENST00000285850,;SLC7A7,missense_variant,p.Ala331Thr,ENST00000397528,NM_001126105.2;SLC7A7,missense_variant,p.Ala331Thr,ENST00000397529,;SLC7A7,missense_variant,p.Ala65Thr,ENST00000554517,;SLC7A7,missense_variant,p.Ala46Thr,ENST00000556350,;OXA1L,downstream_gene_variant,,ENST00000358043,;OXA1L,downstream_gene_variant,,ENST00000285848,NM_005015.3;OXA1L,downstream_gene_variant,,ENST00000604262,;OXA1L,downstream_gene_variant,,ENST00000412791,;SLC7A7,non_coding_transcript_exon_variant,,ENST00000554061,;SLC7A7,intron_variant,,ENST00000556287,;OXA1L,downstream_gene_variant,,ENST00000495424,;OXA1L,downstream_gene_variant,,ENST00000481218,;SLC7A7,upstream_gene_variant,,ENST00000555678,;	uc001wgr.3	c.991G>A	1330/2263	2	2			c.991G>A						14	SNP	c.(991-993)GCT>ACT	42	42			ovary(1)|breast(1)	2	Broad	solute carrier family 7 member 7			23245049		0.428	ENSG00000155465	14475	g.chr14:23245049C>T	blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity							191.860164	KEEP	37	51	-1	62	66	37	51	-1	192.906144	62	66	0.414634	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC7A7_uc001wgs.3_Missense_Mutation_p.A331T|SLC7A7_uc001wgt.3_Missense_Mutation_p.A331T|SLC7A7_uc001wgu.3_Missense_Mutation_p.A331T|SLC7A7_uc001wgv.3_Missense_Mutation_p.A331T	191	GBM-27-1832-TP	p.A331T	C	TACCTAGAAGCAGCCACAATG	NM_003982	NP_003973	23245049	Q9UM01	YLAT1_HUMAN	0		GBM - Glioblastoma multiforme(265;0.00741)	6	1129	-	T	T	all_cancers(95;8.44e-05)		Missense_Mutation	331						
SLC7A8	0	broad.mit.edu	GRCh37	14	23600746	23600746	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316902.7:c.1037G>A	p.Arg346Gln	p.R346Q	ENST00000316902	NM_012244.3	346	cGa/cAa	0			1			T	R/Q	uc001wiz.2	protein_coding	YES	CCDS9590.1			1037/1608									ovary(1)	1	c.(1036-1038)CGA>CAA			hmmpanther:PTHR11785:SF113,hmmpanther:PTHR11785,TIGRFAM_domain:TIGR00911,Pfam_domain:PF13520,PIRSF_domain:PIRSF006060	solute carrier family 7 (cationic amino acid	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)			ENSP00000320378		11-Aug	1.65E-05					3.06E-05			rs758825641,COSM2154816	11-Aug	.		ENST00000316902	Transcript			blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity	ENSG00000092068	g.chr14:23600746C>T	11066			MODERATE		2.18	medium	getma.org/?cm=msa&ty=f&p=LAT2_HUMAN&rb=40&re=464&var=R346Q	getma.org/pdb.php?prot=LAT2_HUMAN&from=40&to=464&var=R346Q	getma.org/?cm=var&var=hg19,14,23600746,C,T&fts=all	R346Q	--	--	1																																		SLC7A8_uc001wiw.2_5'Flank|SLC7A8_uc001wix.2_Missense_Mutation_p.R143Q|SLC7A8_uc010tnk.1_Missense_Mutation_p.R122Q|SLC7A8_uc010tnl.1_Missense_Mutation_p.R241Q|SLC7A8_uc001wiy.2_RNA|SLC7A8_uc010akj.2_Intron	0,1	1		probably_damaging(0.999)	p.R346Q	NM_012244	NP_036376		deleterious(0)	0,1	LAT2_HUMAN	SLC7A8	HGNC	Q9UHI5	LAT2_HUMAN		GBM - Glioblastoma multiforme(265;0.00809)	E9PQT4_HUMAN,E9PIC3_HUMAN,B3KSX4_HUMAN		8	1763	-	all_cancers(95;4.6e-05)		UPI000012E235	346					SNV	SLC7A8,missense_variant,p.Arg346Gln,ENST00000316902,NM_012244.3;SLC7A8,missense_variant,p.Arg241Gln,ENST00000529705,NM_001267036.1;SLC7A8,missense_variant,p.Arg143Gln,ENST00000453702,NM_182728.2;SLC7A8,missense_variant,p.Arg122Gln,ENST00000422941,NM_001267037.1;SLC7A8,intron_variant,,ENST00000469263,;SLC7A8,missense_variant,p.Arg149Gln,ENST00000339733,;SLC7A8,3_prime_UTR_variant,,ENST00000528860,;SLC7A8,non_coding_transcript_exon_variant,,ENST00000528806,;SLC7A8,non_coding_transcript_exon_variant,,ENST00000528186,;SLC7A8,upstream_gene_variant,,ENST00000397310,;	uc001wiz.2	c.1037G>A	1763/4216	2	2			c.1037G>A						14	SNP	c.(1036-1038)CGA>CAA	43	43			ovary(1)	1	Broad	solute carrier family 7 (cationic amino acid		L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	23600746		0.592	ENSG00000092068	14476	g.chr14:23600746C>T	blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity							83.699342	KEEP	18	13	-1	13	20	18	13	-1	83.732107	13	20	0.474576	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC7A8_uc001wiw.2_5'Flank|SLC7A8_uc001wix.2_Missense_Mutation_p.R143Q|SLC7A8_uc010tnk.1_Missense_Mutation_p.R122Q|SLC7A8_uc010tnl.1_Missense_Mutation_p.R241Q|SLC7A8_uc001wiy.2_RNA|SLC7A8_uc010akj.2_Intron	139	GBM-14-0817-TP	p.R346Q	C	GTGGCCCTCTCGGGCTCCAGC	NM_012244	NP_036376	23600746	Q9UHI5	LAT2_HUMAN	0		GBM - Glioblastoma multiforme(265;0.00809)	8	1763	-	T	T	all_cancers(95;4.6e-05)		Missense_Mutation	346						
SLC8A2	6543	broad.mit.edu	GRCh37	19	47960816	47960816	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000236877.6:c.711G>A	p.Pro237=	p.P237=	ENST00000236877	NM_015063.2	237	ccG/ccA	0			1			T	P	uc002pgx.2	protein_coding	YES	CCDS33065.1			711/2766									skin(3)|ovary(1)	4	c.(709-711)CCG>CCA			Pfam_domain:PF01699,hmmpanther:PTHR11878,TIGRFAM_domain:TIGR00845,Transmembrane_helices:TMhelix	solute carrier family 8 member 2 precursor				ENSP00000236877		10-Mar									COSM3404420	10-Mar	.		ENST00000236877	Transcript			cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	ENSG00000118160	g.chr19:47960816C>T	11069			LOW								--	--	1																																		SLC8A2_uc010xyq.1_5'UTR|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Silent_p.P237P	1	1			p.P237P	NM_015063	NP_055878			1	NAC2_HUMAN	SLC8A2	HGNC	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	M0R211_HUMAN,M0R1Z4_HUMAN,F5H6L7_HUMAN,F5GYS4_HUMAN		3	989	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	UPI000012FC49	237			Helical; (Potential).		SNV	SLC8A2,synonymous_variant,p.=,ENST00000236877,NM_015063.2;SLC8A2,synonymous_variant,p.=,ENST00000594353,;SLC8A2,5_prime_UTR_variant,,ENST00000542837,;SLC8A2,intron_variant,,ENST00000539381,;	uc002pgx.2	c.711G>A	1107/5234	1	1			c.711G>A						19	SNP	c.(709-711)CCG>CCA	7	7			skin(3)|ovary(1)	4	Broad	solute carrier family 8 member 2 precursor			47960816		0.587	ENSG00000118160	14479	g.chr19:47960816C>T	cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding							21.627024	KEEP	6	7	-1	29	30	6	7	-1	26.638337	29	30	0.185185	1	0	0	0	0	0	0	1	0	--	--		0	T			SLC8A2_uc010xyq.1_5'UTR|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Silent_p.P237P	12	GBM-06-0125-TP	p.P237P	C	CCACGCACACCGGGAAGAAGA	NM_015063	NP_055878	47960816	Q9UPR5	NAC2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	3	989	-	T	T		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	Silent	237			Helical; (Potential).			
SLC8A2	6543		GRCh37	19	47969508	47969508	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000236877.6:c.153G>A	p.Pro51=	p.P51=	ENST00000236877	NM_015063.2	51	ccG/ccA	0																																																																																																																																																																																																																																												
SLC8B1	0	broad.mit.edu	GRCh37	12	113737741	113737741	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-2509-01	TCGA-28-2509-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000202831.3:c.1596C>T	p.Gly532=	p.G532=	ENST00000202831	NM_024959.2	532	ggC/ggT	0			1			A	G	uc001tvc.2	protein_coding		CCDS31909.1			1596/1755									central_nervous_system(1)	1	c.(1594-1596)GGC>GGT			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR12266,hmmpanther:PTHR12266:SF0,Pfam_domain:PF01699	solute carrier family 24 member 6 precursor				ENSP00000202831		16/16	4.12E-05		0.000174			1.51E-05		0.000121	rs751541902,COSM3398379	16/16	.		ENST00000202831	Transcript			response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	ENSG00000089060	g.chr12:113737741G>A	26175			LOW								--	--	1																																		SLC24A6_uc001tuz.2_Silent_p.G237G|SLC24A6_uc001tva.2_RNA|SLC24A6_uc001tvb.2_Silent_p.G270G	0,1				p.G532G	NM_024959	NP_079235			0,1	NCKX6_HUMAN	SLC8B1	HGNC	Q6J4K2	NCKX6_HUMAN			F8VWW9_HUMAN,F8VTU4_HUMAN,F8VR99_HUMAN		16	1806	-			UPI000004FA44	532			Helical; Name=12; (Potential).		SNV	SLC8B1,synonymous_variant,p.=,ENST00000552014,;SLC8B1,synonymous_variant,p.=,ENST00000202831,NM_024959.2;SLC8B1,synonymous_variant,p.=,ENST00000550047,;SLC8B1,synonymous_variant,p.=,ENST00000546737,;SLC8B1,synonymous_variant,p.=,ENST00000549069,;TPCN1,downstream_gene_variant,,ENST00000550785,NM_001143819.1;TPCN1,downstream_gene_variant,,ENST00000335509,NM_017901.4;TPCN1,downstream_gene_variant,,ENST00000541517,;TPCN1,downstream_gene_variant,,ENST00000392569,;TPCN1,downstream_gene_variant,,ENST00000546787,;SLC8B1,3_prime_UTR_variant,,ENST00000550672,;SLC8B1,non_coding_transcript_exon_variant,,ENST00000552565,;TPCN1,downstream_gene_variant,,ENST00000552077,;TPCN1,downstream_gene_variant,,ENST00000551127,;	uc001tvc.2	c.1596C>T	1806/2975	2	2			c.1596C>T						12	SNP	c.(1594-1596)GGC>GGT	44	44			central_nervous_system(1)	1	Broad	solute carrier family 24 member 6 precursor			113737741		0.627	ENSG00000089060	14245	g.chr12:113737741G>A	response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity							51.192128	KEEP	9	16	-1	26	18	9	16	-1	51.853313	26	18	0.381818	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC24A6_uc001tuz.2_Silent_p.G237G|SLC24A6_uc001tva.2_RNA|SLC24A6_uc001tvb.2_Silent_p.G270G	211	GBM-28-2509-TP	p.G532G	G	GCCCCAGGGCGCCTGCCAGGA	NM_024959	NP_079235	113737741	Q6J4K2	NCKX6_HUMAN	0			16	1806	-	A	A			Silent	532			Helical; Name=12; (Potential).			
SLC8B1	0	broad.mit.edu	GRCh37	12	113770568	113770568	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-32-1977-01	TCGA-32-1977-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000202831.3:c.116A>T	p.Gln39Leu	p.Q39L	ENST00000202831	NM_024959.2	39	cAg/cTg	0			1			A	Q/L	uc001tvc.2	protein_coding		CCDS31909.1			116/1755									central_nervous_system(1)	1	c.(115-117)CAG>CTG			hmmpanther:PTHR12266,hmmpanther:PTHR12266:SF0	solute carrier family 24 member 6 precursor				ENSP00000202831		16-Feb									COSM3398380	16-Feb	.		ENST00000202831	Transcript			response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	ENSG00000089060	g.chr12:113770568T>A	26175			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=NCKX6_HUMAN&rb=1&re=112&var=Q39L	NA	getma.org/?cm=var&var=hg19,12,113770568,T,A&fts=all	Q39L	--	--	1																																		SLC24A6_uc001tvd.1_Missense_Mutation_p.Q39L	1			benign(0.002)	p.Q39L	NM_024959	NP_079235		tolerated_low_confidence(0.3)	1	NCKX6_HUMAN	SLC8B1	HGNC	Q6J4K2	NCKX6_HUMAN			F8VWW9_HUMAN,F8VTU4_HUMAN,F8VR99_HUMAN		2	326	-			UPI000004FA44	39			Extracellular (Potential).		SNV	SLC8B1,missense_variant,p.Gln39Leu,ENST00000552014,;SLC8B1,missense_variant,p.Gln39Leu,ENST00000202831,NM_024959.2;SLC8B1,missense_variant,p.Gln39Leu,ENST00000546737,;SLC8B1,missense_variant,p.Gln39Leu,ENST00000548186,;SLC8B1,missense_variant,p.Gln39Leu,ENST00000549181,;SLC8B1,missense_variant,p.Gln39Leu,ENST00000549372,;SLC8B1,non_coding_transcript_exon_variant,,ENST00000553238,;SLC8B1,intron_variant,,ENST00000551230,;SLC8B1,downstream_gene_variant,,ENST00000548518,;SLC8B1,missense_variant,p.Gln39Leu,ENST00000549605,;SLC8B1,missense_variant,p.Gln39Leu,ENST00000552613,;SLC8B1,non_coding_transcript_exon_variant,,ENST00000548477,;	uc001tvc.2	c.116A>T	326/2975	1	1			c.116A>T						12	SNP	c.(115-117)CAG>CTG	59	59			central_nervous_system(1)	1	Broad	solute carrier family 24 member 6 precursor			113770568		0.527	ENSG00000089060	14245	g.chr12:113770568T>A	response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity							47.790079	KEEP	11	9	-1	18	37	11	9	-1	51.589556	18	37	0.260274	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC24A6_uc001tvd.1_Missense_Mutation_p.Q39L	229	GBM-32-1977-TP	p.Q39L	T	AGCTGGAAACTGGGGGCTAAT	NM_024959	NP_079235	113770568	Q6J4K2	NCKX6_HUMAN	0			2	326	-	A	A			Missense_Mutation	39			Extracellular (Potential).			
SLC9A3	6550	broad.mit.edu	GRCh37	5	481703	481703	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5856-01	TCGA-06-5856-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264938.3:c.1494C>T	p.Ile498=	p.I498=	ENST00000264938	NM_004174.2	498	atC/atT	0	A:0.0002		1			A	I	uc003jbe.2	protein_coding	YES	CCDS3855.1			1494/2505										0	c.(1492-1494)ATC>ATT			hmmpanther:PTHR10110:SF90,hmmpanther:PTHR10110,TIGRFAM_domain:TIGR00840	solute carrier family 9 (sodium/hydrogen			A:0	ENSP00000264938		17-Sep	2.47E-05	0.000288							rs200474984,COSM3343123	17-Sep	.		ENST00000264938	Transcript				cell surface|integral to membrane	sodium:hydrogen antiporter activity	ENSG00000066230	g.chr5:481703G>A	11073			LOW								--	--	1																																		SLC9A3_uc011clx.1_Silent_p.I489I	0,1	1			p.I498I	NM_004174	NP_004165			0,1	SL9A3_HUMAN	SLC9A3	HGNC	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)				9	1606	-			UPI000013D597	498			Cytoplasmic (Potential).		SNV	SLC9A3,synonymous_variant,p.=,ENST00000264938,NM_004174.2;SLC9A3,synonymous_variant,p.=,ENST00000514375,NM_001284351.1;CTD-2228K2.7,downstream_gene_variant,,ENST00000607286,;CTD-2228K2.7,downstream_gene_variant,,ENST00000606288,;CTD-2228K2.7,downstream_gene_variant,,ENST00000607005,;CTD-2228K2.7,downstream_gene_variant,,ENST00000431004,;SLC9A3,non_coding_transcript_exon_variant,,ENST00000507407,;CTD-2228K2.7,downstream_gene_variant,,ENST00000534918,;CTD-2228K2.7,downstream_gene_variant,,ENST00000606074,;CTD-2228K2.7,downstream_gene_variant,,ENST00000606107,;	uc003jbe.2	c.1494C>T	1504/2584	1	1			c.1494C>T						5	SNP	c.(1492-1494)ATC>ATT	62	62				0	Broad	solute carrier family 9 (sodium/hydrogen			481703		0.582	ENSG00000066230	14485	g.chr5:481703G>A		cell surface|integral to membrane	sodium:hydrogen antiporter activity							21.39451	KEEP	21	20	-1	154	195	21	20	-1	76.0874	154	195	0.095808	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC9A3_uc011clx.1_Silent_p.I489I	101	GBM-06-5856-TP	p.I498I	G	AATTGTGCCCGATCTGTCCGG	NM_004174	NP_004165	481703	P48764	SL9A3_HUMAN	0	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		9	1606	-	A	A			Silent	498			Cytoplasmic (Potential).			
SLC9A3	0	broad.mit.edu	GRCh37	5	482707	482707	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264938.3:c.1312G>A	p.Val438Ile	p.V438I	ENST00000264938	NM_004174.2	438	Gtc/Atc	0	T:0	T:0	1	T:0		T	V/I	uc003jbe.2	protein_coding	YES	CCDS3855.1			1312/2505										0	c.(1312-1314)GTC>ATC			Transmembrane_helices:TMhelix,hmmpanther:PTHR10110:SF90,hmmpanther:PTHR10110,TIGRFAM_domain:TIGR00840,Pfam_domain:PF00999	solute carrier family 9 (sodium/hydrogen		T:0.001	T:0.0001	ENSP00000264938	T:0	17-Jul	4.94E-05			0.000116		4.56E-05		0.000121	rs375784344,COSM2154836	17-Jul	.		ENST00000264938	Transcript		T:0.0002		cell surface|integral to membrane	sodium:hydrogen antiporter activity	ENSG00000066230	g.chr5:482707C>T	11073			MODERATE		0.255	neutral	getma.org/?cm=msa&ty=f&p=SL9A3_HUMAN&rb=58&re=462&var=V438I	NA	getma.org/?cm=var&var=hg19,5,482707,C,T&fts=all	V438I	--	--	1																																		SLC9A3_uc011clx.1_Missense_Mutation_p.V438I	0,1	1		probably_damaging(0.965)	p.V438I	NM_004174	NP_004165	T:0	tolerated(0.12)	0,1	SL9A3_HUMAN	SLC9A3	HGNC	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)				7	1424	-			UPI000013D597	438			Helical; Name=M/M10; (Potential).		SNV	SLC9A3,missense_variant,p.Val438Ile,ENST00000264938,NM_004174.2;SLC9A3,missense_variant,p.Val438Ile,ENST00000514375,NM_001284351.1;CTD-2228K2.7,downstream_gene_variant,,ENST00000607286,;CTD-2228K2.7,downstream_gene_variant,,ENST00000606288,;CTD-2228K2.7,downstream_gene_variant,,ENST00000607005,;CTD-2228K2.7,downstream_gene_variant,,ENST00000431004,;SLC9A3,non_coding_transcript_exon_variant,,ENST00000507407,;CTD-2228K2.7,downstream_gene_variant,,ENST00000534918,;CTD-2228K2.7,downstream_gene_variant,,ENST00000606074,;CTD-2228K2.7,downstream_gene_variant,,ENST00000606107,;	uc003jbe.2	c.1312G>A	1322/2584	2	2			c.1312G>A						5	SNP	c.(1312-1314)GTC>ATC	25	25				0	Broad	solute carrier family 9 (sodium/hydrogen			482707		0.652	ENSG00000066230	14485	g.chr5:482707C>T		cell surface|integral to membrane	sodium:hydrogen antiporter activity							128.847398	KEEP	23	20	-1	30	28	23	20	-1	129.077227	30	28	0.446809	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC9A3_uc011clx.1_Missense_Mutation_p.V438I	139	GBM-14-0817-TP	p.V438I	C	GTGGTGCTGACGAACAGGTTC	NM_004174	NP_004165	482707	P48764	SL9A3_HUMAN	0	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		7	1424	-	T	T			Missense_Mutation	438			Helical; Name=M/M10; (Potential).			
SLC9A3	0	broad.mit.edu	GRCh37	5	492029	492029	+	synonymous_variant	Silent	SNP	G	G	A	rs144657077		TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264938.3:c.369C>T	p.Ile123=	p.I123=	ENST00000264938	NM_004174.2	123	atC/atT	0	A:0.0002		1			A	I	uc003jbe.2	protein_coding	YES	CCDS3855.1			369/2505										0	c.(367-369)ATC>ATT			Transmembrane_helices:TMhelix,hmmpanther:PTHR10110:SF90,hmmpanther:PTHR10110,TIGRFAM_domain:TIGR00840,Pfam_domain:PF00999,Prints_domain:PR01084	solute carrier family 9 (sodium/hydrogen			A:0.0002	ENSP00000264938		17-Feb	0.000107	0.000246		0.000134		0.00013		0.000142	rs144657077,COSM2155210	17-Feb	.		ENST00000264938	Transcript				cell surface|integral to membrane	sodium:hydrogen antiporter activity	ENSG00000066230	g.chr5:492029G>A	11073			LOW								--	--	1																																		SLC9A3_uc011clx.1_Silent_p.I123I	0,1	1			p.I123I	NM_004174	NP_004165			0,1	SL9A3_HUMAN	SLC9A3	HGNC	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)				2	481	-			UPI000013D597	123			Helical; Name=D/M4; (Potential).		SNV	SLC9A3,synonymous_variant,p.=,ENST00000264938,NM_004174.2;SLC9A3,synonymous_variant,p.=,ENST00000514375,NM_001284351.1;	uc003jbe.2	c.369C>T	379/2584	2	2			c.369C>T						5	SNP	c.(367-369)ATC>ATT	30	30				0	Broad	solute carrier family 9 (sodium/hydrogen			492029		0.652	ENSG00000066230	14485	g.chr5:492029G>A		cell surface|integral to membrane	sodium:hydrogen antiporter activity							13.673974	KEEP	2	3	-1	5	5	2	3	-1	13.924317	5	5	0.357143	1	0	0	0	0	0	0	1	0	--	--		0	A			SLC9A3_uc011clx.1_Silent_p.I123I	142	GBM-14-1034-TP	p.I123I	G	CGTCCAGCACGATGGGGGGCA	NM_004174	NP_004165	492029	P48764	SL9A3_HUMAN	0	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		2	481	-	A	A			Silent	123			Helical; Name=D/M4; (Potential).			
SLC9A4	389015	broad.mit.edu	GRCh37	2	103095487	103095487	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01	TCGA-02-0047-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295269.4:c.446G>A	p.Arg149Gln	p.R149Q	ENST00000295269	NM_001011552.3	149	cGg/cAg	0			1			A	R/Q	uc002tbz.3	protein_coding	YES	CCDS33264.1			446/2397									skin(2)|central_nervous_system(1)	3	c.(445-447)CGG>CAG			Pfam_domain:PF00999,Prints_domain:PR01084,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF103,TIGRFAM_domain:TIGR00840	solute carrier family 9 (sodium/hydrogen				ENSP00000295269		12-Feb	8.24E-06			0.000116					rs768860169,COSM2149005	12-Feb	.		ENST00000295269	Transcript			regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	ENSG00000180251	g.chr2:103095487G>A	11077			MODERATE		2.93	medium	getma.org/?cm=msa&ty=f&p=SL9A4_HUMAN&rb=73&re=477&var=R149Q	NA	getma.org/?cm=var&var=hg19,2,103095487,G,A&fts=all	R149Q	--	--	1																																			0,1	1		probably_damaging(0.915)	p.R149Q	NM_001011552	NP_001011552		deleterious(0.01)	0,1	SL9A4_HUMAN	SLC9A4	HGNC	Q6AI14	SL9A4_HUMAN					2	903	+			UPI000047F996	149			Cytoplasmic (Potential).		SNV	SLC9A4,missense_variant,p.Arg149Gln,ENST00000295269,NM_001011552.3;	uc002tbz.3	c.446G>A	903/4138	2	2			c.446G>A						2	SNP	c.(445-447)CGG>CAG	20	20			skin(2)|central_nervous_system(1)	3	Broad	solute carrier family 9 (sodium/hydrogen			103095487		0.597	ENSG00000180251	14488	g.chr2:103095487G>A	regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity							117.516504	KEEP	22	24	-1	49	43	22	24	-1	120.020346	49	43	0.344538	1	0	0	0	0	1	0	0	0	--	--		0	A				3	GBM-02-0047-TP	p.R149Q	G	ATGCCCACCCGGCCCTTCTTT	NM_001011552	NP_001011552	103095487	Q6AI14	SL9A4_HUMAN	0			2	903	+	A	A			Missense_Mutation	149			Cytoplasmic (Potential).			
SLC9A4	389015	broad.mit.edu	GRCh37	2	103095456	103095456	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295269.4:c.415G>A	p.Val139Ile	p.V139I	ENST00000295269	NM_001011552.3	139	Gtt/Att	0			1			A	V/I	uc002tbz.3	protein_coding	YES	CCDS33264.1			415/2397									skin(2)|central_nervous_system(1)	3	c.(415-417)GTT>ATT			Pfam_domain:PF00999,Prints_domain:PR01084,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF103,TIGRFAM_domain:TIGR00840,Transmembrane_helices:TMhelix	solute carrier family 9 (sodium/hydrogen				ENSP00000295269		12-Feb									COSM2151858	12-Feb	.		ENST00000295269	Transcript			regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	ENSG00000180251	g.chr2:103095456G>A	11077			MODERATE		-0.26	neutral	getma.org/?cm=msa&ty=f&p=SL9A4_HUMAN&rb=73&re=477&var=V139I	NA	getma.org/?cm=var&var=hg19,2,103095456,G,A&fts=all	V139I	--	--	1																																			1	1		benign(0.06)	p.V139I	NM_001011552	NP_001011552		tolerated(0.38)	1	SL9A4_HUMAN	SLC9A4	HGNC	Q6AI14	SL9A4_HUMAN					2	872	+			UPI000047F996	139			Helical; Name=D/M4; (Potential).		SNV	SLC9A4,missense_variant,p.Val139Ile,ENST00000295269,NM_001011552.3;	uc002tbz.3	c.415G>A	872/4138	2	2			c.415G>A						2	SNP	c.(415-417)GTT>ATT	22	22			skin(2)|central_nervous_system(1)	3	Broad	solute carrier family 9 (sodium/hydrogen			103095456		0.617	ENSG00000180251	14488	g.chr2:103095456G>A	regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity							136.526398	KEEP	26	29	-1	66	45	26	29	-1	139.195547	66	45	0.352518	1	0	0	0	0	1	0	0	0	--	--		0	A				68	GBM-06-0747-TP	p.V139I	G	GCCACCCATCGTTCTGGAGGG	NM_001011552	NP_001011552	103095456	Q6AI14	SL9A4_HUMAN	0			2	872	+	A	A			Missense_Mutation	139			Helical; Name=D/M4; (Potential).			
SLC9A4	0	broad.mit.edu	GRCh37	2	103095704	103095704	+	synonymous_variant	Silent	SNP	C	C	T	rs115868705	byFrequency;by1000genomes	TCGA-12-5301-01	TCGA-12-5301-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295269.4:c.663C>T	p.Asn221=	p.N221=	ENST00000295269	NM_001011552.3	221	aaC/aaT	0	T:0.0039	T:0.0061	1	T:0		T	N	uc002tbz.3	protein_coding	YES	CCDS33264.1			663/2397									skin(2)|central_nervous_system(1)	3	c.(661-663)AAC>AAT			Pfam_domain:PF00999,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF103,TIGRFAM_domain:TIGR00840	solute carrier family 9 (sodium/hydrogen		T:0	T:0	ENSP00000295269	T:0	12-Feb	0.000412	0.00451	0.000351						rs115868705,COSM3406732	12-Feb	common_variant		ENST00000295269	Transcript		T:0.0016	regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	ENSG00000180251	g.chr2:103095704C>T	11077			LOW								--	--	1																																			0,1	1			p.N221N	NM_001011552	NP_001011552	T:0		0,1	SL9A4_HUMAN	SLC9A4	HGNC	Q6AI14	SL9A4_HUMAN					2	1120	+			UPI000047F996	221			Cytoplasmic (Potential).		SNV	SLC9A4,synonymous_variant,p.=,ENST00000295269,NM_001011552.3;	uc002tbz.3	c.663C>T	1120/4138	2	2			c.663C>T						2	SNP	c.(661-663)AAC>AAT	17	17			skin(2)|central_nervous_system(1)	3	Broad	solute carrier family 9 (sodium/hydrogen			103095704		0.612	ENSG00000180251	14488	g.chr2:103095704C>T	regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity							60.812468	KEEP	13	17	-1	17	26	13	17	-1	61.202642	17	26	0.410714	1	0	0	0	0	0	0	1	0	--	--		0	T				131	GBM-12-5301-TP	p.N221N	C	CGCGCGTGAACGAGCAGCTCT	NM_001011552	NP_001011552	103095704	Q6AI14	SL9A4_HUMAN	0			2	1120	+	T	T			Silent	221			Cytoplasmic (Potential).			
SLC9A4	0	broad.mit.edu	GRCh37	2	103141552	103141552	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01	TCGA-76-4928-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295269.4:c.1888C>T	p.Arg630Cys	p.R630C	ENST00000295269	NM_001011552.3	630	Cgc/Tgc	0	T:0		1			T	R/C	uc002tbz.3	protein_coding	YES	CCDS33264.1			1888/2397									skin(2)|central_nervous_system(1)	3	c.(1888-1890)CGC>TGC			hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF103	solute carrier family 9 (sodium/hydrogen			T:0.0001	ENSP00000295269		12-Oct									rs201264205,COSM3406733	12-Oct	.		ENST00000295269	Transcript			regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	ENSG00000180251	g.chr2:103141552C>T	11077			MODERATE		2.805	medium	getma.org/?cm=msa&ty=f&p=SL9A4_HUMAN&rb=478&re=677&var=R630C	NA	getma.org/?cm=var&var=hg19,2,103141552,C,T&fts=all	R630C	--	--	1																																			0,1	1		possibly_damaging(0.858)	p.R630C	NM_001011552	NP_001011552		deleterious(0.01)	0,1	SL9A4_HUMAN	SLC9A4	HGNC	Q6AI14	SL9A4_HUMAN					10	2345	+			UPI000047F996	630			Cytoplasmic (Potential).		SNV	SLC9A4,missense_variant,p.Arg630Cys,ENST00000295269,NM_001011552.3;	uc002tbz.3	c.1888C>T	2345/4138	2	2			c.1888C>T						2	SNP	c.(1888-1890)CGC>TGC	40	40			skin(2)|central_nervous_system(1)	3	Broad	solute carrier family 9 (sodium/hydrogen			103141552		0.502	ENSG00000180251	14488	g.chr2:103141552C>T	regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity							164.178585	KEEP	32	49	-1	128	189	32	49	-1	193.575382	128	189	0.207547	1	0	0	0	0	1	0	0	0	--	--		0	T				268	GBM-76-4928-TP	p.R630C	C	GATTCTGATCCGCCGCCAGAA	NM_001011552	NP_001011552	103141552	Q6AI14	SL9A4_HUMAN	0			10	2345	+	T	T			Missense_Mutation	630			Cytoplasmic (Potential).			
SLC9A4	389015		GRCh37	2	103149074	103149074	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000295269.4:c.2324C>T	p.Ser775Leu	p.S775L	ENST00000295269	NM_001011552.3	775	tCg/tTg	0																																																																																																																																																																																																																																												
SLC9A4	389015		GRCh37	2	103141556	103141556	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000295269.4:c.1892G>A	p.Arg631His	p.R631H	ENST00000295269	NM_001011552.3	631	cGc/cAc	0																																																																																																																																																																																																																																												
SLC9A6	10479	broad.mit.edu	GRCh37	X	135081058	135081058	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0241-01	TCGA-06-0241-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370695.4:c.724C>T	p.Gln242Ter	p.Q242*	ENST00000370695	NM_001042537.1	242	Caa/Taa	0			1			T	Q/*	uc004ezj.2	protein_coding		CCDS14654.1			628/2010									ovary(1)	1	c.(628-630)CAA>TAA			Pfam_domain:PF00999,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF94,TIGRFAM_domain:TIGR00840	solute carrier family 9 (sodium/hydrogen				ENSP00000359732		16-May									COSM2151161,COSM3405992	16-May	.		ENST00000370698	Transcript	1		regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	ENSG00000198689	g.chrX:135081058C>T	11079			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,X,135081058,C,T&fts=all	Q210*	--	--	1																																		SLC9A6_uc004ezk.2_Nonsense_Mutation_p.Q242*|SLC9A6_uc011mvx.1_Nonsense_Mutation_p.Q190*	1,1				p.Q210*	NM_006359	NP_006350			1,1	SL9A6_HUMAN	SLC9A6	HGNC	Q92581	SL9A6_HUMAN					5	704	+	Acute lymphoblastic leukemia(192;0.000127)		UPI000012FD2F	210					SNV	SLC9A6,stop_gained,p.Gln242Ter,ENST00000370695,NM_001042537.1;SLC9A6,stop_gained,p.Gln210Ter,ENST00000370698,NM_006359.2;SLC9A6,stop_gained,p.Gln190Ter,ENST00000370701,NM_001177651.1;	uc004ezj.2	c.628C>T	663/4585	5	1			c.628C>T						23	SNP	c.(628-630)CAA>TAA	16	16			ovary(1)	1	Broad	solute carrier family 9 (sodium/hydrogen			135081058		0.353	ENSG00000198689	14490	g.chrX:135081058C>T	regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity							270.207259	KEEP	58	58	-1	91	91	58	58	-1	272.620068	91	91	0.396078	1	0	0	0	0	0	1	0	0	--	--		0	T			SLC9A6_uc004ezk.2_Nonsense_Mutation_p.Q242*|SLC9A6_uc011mvx.1_Nonsense_Mutation_p.Q190*	57	GBM-06-0241-TP	p.Q210*	C	GGTAACGGGACAACTTGCAGG	NM_006359	NP_006350	135081058	Q92581	SL9A6_HUMAN	0			5	704	+	T	T	Acute lymphoblastic leukemia(192;0.000127)		Nonsense_Mutation	210						
SLC9A7	84679	broad.mit.edu	GRCh37	X	46618211	46618211	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-1804-01	TCGA-06-1804-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328306.4:c.254T>A	p.Ile85Asn	p.I85N	ENST00000328306	NM_001257291.1	85	aTc/aAc	0			1			T	I/N	uc004dgu.1	protein_coding	YES	CCDS14269.1			254/2178									ovary(2)	2	c.(253-255)ATC>AAC			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF94,Pfam_domain:PF00999,Prints_domain:PR01088	solute carrier family 9, member 7				ENSP00000330320		17-Jan									COSM2152471	17-Jan	.		ENST00000328306	Transcript			regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity	ENSG00000065923	g.chrX:46618211A>T	17123			MODERATE		2.705	medium	getma.org/?cm=msa&ty=f&p=SL9A7_HUMAN&rb=77&re=534&var=I85N	NA	getma.org/?cm=var&var=hg19,X,46618211,A,T&fts=all	I85N	--	--	1																																		SLC9A7_uc004dgv.1_Missense_Mutation_p.I85N	1	1		probably_damaging(0.98)	p.I85N	NM_032591	NP_115980		deleterious(0)	1	SL9A7_HUMAN	SLC9A7	HGNC	Q96T83	SL9A7_HUMAN					1	262	-			UPI0000071389	85			Helical; (Potential).		SNV	SLC9A7,missense_variant,p.Ile85Asn,ENST00000328306,NM_001257291.1,NM_032591.2;	uc004dgu.1	c.254T>A	280/3838	2	2			c.254T>A						23	SNP	c.(253-255)ATC>AAC	46	46			ovary(2)	2	Broad	solute carrier family 9, member 7			46618211		0.632	ENSG00000065923	14491	g.chrX:46618211A>T	regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity	Pancreas(118;454 1696 1930 13865 39976)			Pancreas(118;454 1696 1930 13865 39976)			61.992699	KEEP	10	18	-1	32	35	10	18	-1	65.232375	32	35	0.2875	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC9A7_uc004dgv.1_Missense_Mutation_p.I85N	79	GBM-06-1804-TP	p.I85N	A	GATGGTGAGGATGGTGAGCGT	NM_032591	NP_115980	46618211	Q96T83	SL9A7_HUMAN	0			1	262	-	T	T			Missense_Mutation	85			Helical; (Potential).			
SLC9A7	0	broad.mit.edu	GRCh37	X	46491045	46491047	+	inframe_deletion	In_Frame_Del	DEL	GTT	GTT	-			TCGA-27-1838-01	TCGA-27-1838-01	GTT	GTT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328306.4:c.1711_1713delAAC	p.Asn571del	p.N571del	ENST00000328306	NM_001257291.1	571	AAC/-	0			1			-	N/-	uc004dgu.1	protein_coding	YES	CCDS14269.1			1711-1713/2178									ovary(2)	2	c.(1711-1713)AACdel			Low_complexity_(Seg):seg,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF94	solute carrier family 9, member 7				ENSP00000330320		14/17	8.24E-06	0.000127							rs746256363	14/17	.		ENST00000328306	Transcript			regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity	ENSG00000065923	g.chrX:46491045_46491047delGTT	17123			MODERATE								--	--	1																																				1			p.N571del	NM_032591	NP_115980				SL9A7_HUMAN	SLC9A7	HGNC	Q96T83	SL9A7_HUMAN					14	1719_1721	-			UPI0000071389	571					deletion	SLC9A7,inframe_deletion,p.Asn571del,ENST00000328306,NM_001257291.1,NM_032591.2;SLC9A7,non_coding_transcript_exon_variant,,ENST00000464933,;SLC9A7,intron_variant,,ENST00000489574,;	uc004dgu.1	c.1711_1713delAAC	1737-1739/3838	5	5			c.1711_1713delAAC						23	DEL	c.(1711-1713)AACdel	3	3			ovary(2)	2	Broad	solute carrier family 9, member 7			46491047		0.384	ENSG00000065923	14491	g.chrX:46491045_46491047delGTT	regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity	Pancreas(118;454 1696 1930 13865 39976)			Pancreas(118;454 1696 1930 13865 39976)																0.36	1	1	0	1	0	0	0	0	0	--	--		0	-				197	GBM-27-1838-TP	p.N571del	GTT	GAAAGCTGTCGTTGTTGGGTGGT	NM_032591	NP_115980	46491045	Q96T83	SL9A7_HUMAN	0			14	1719_1721	-	-	-			In_Frame_Del	571						
SLC9A8	0	broad.mit.edu	GRCh37	20	48503378	48503378	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-16-1045-01	TCGA-16-1045-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361573.2:c.1581C>T	p.Phe527=	p.F527=	ENST00000361573		527	ttC/ttT	0			1			T	F	uc002xuv.1	protein_coding		CCDS13421.1			1581/1746									ovary(1)	1	c.(1579-1581)TTC>TTT			hmmpanther:PTHR10110	sodium/hydrogen exchanger 8				ENSP00000354966		15/16									COSM285149,COSM3405180	15/16	.		ENST00000361573	Transcript				Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	ENSG00000197818	g.chr20:48503378C>T	20728			LOW								--	--	1																																		SLC9A8_uc010zym.1_Silent_p.F227F|SLC9A8_uc010gid.2_Silent_p.F151F	1,1				p.F527F	NM_015266	NP_056081			1,1	SL9A8_HUMAN	SLC9A8	HGNC	Q9Y2E8	SL9A8_HUMAN	BRCA - Breast invasive adenocarcinoma(9;3.91e-07)		B7Z3B1_HUMAN,B4DIV9_HUMAN		15	1791	+			UPI00001C2035	527					SNV	SLC9A8,synonymous_variant,p.=,ENST00000417961,NM_015266.2,NM_001260491.1;SLC9A8,synonymous_variant,p.=,ENST00000361573,;SLC9A8,synonymous_variant,p.=,ENST00000539601,;SLC9A8,synonymous_variant,p.=,ENST00000541138,;SLC9A8,non_coding_transcript_exon_variant,,ENST00000490250,;	uc002xuv.1	c.1581C>T	1623/6094	2	2			c.1581C>T						20	SNP	c.(1579-1581)TTC>TTT	33	33			ovary(1)	1	Broad	sodium/hydrogen exchanger 8			48503378		0.627	ENSG00000197818	14492	g.chr20:48503378C>T		Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity							7.4037	KEEP	10	9	-1	73	78	10	9	-1	31.494525	73	78	0.090909	1	0	0	0	0	0	0	1	0	--	--		0	T			SLC9A8_uc010zym.1_Silent_p.F227F|SLC9A8_uc010gid.2_Silent_p.F151F	157	GBM-16-1045-TP	p.F527F	C	TTAAGGGCTTCGTGTGGCTGG	NM_015266	NP_056081	48503378	Q9Y2E8	SL9A8_HUMAN	0	BRCA - Breast invasive adenocarcinoma(9;3.91e-07)		15	1791	+	T	T			Silent	527						
SLC9A9	285195	broad.mit.edu	GRCh37	3	143212496	143212496	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C			TCGA-06-5411-01	TCGA-06-5411-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316549.6:c.1314A>G		p.X438_splice	ENST00000316549	NM_173653.3	438	tcA/tcG	0			1			C	S	uc003evn.2	protein_coding	YES	CCDS33872.1			1314/1938									ovary(2)|skin(1)	3	c.(1312-1314)TCA>TCG			hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF61,TIGRFAM_domain:TIGR00840,Pfam_domain:PF00999	solute carrier family 9 (sodium/hydrogen				ENSP00000320246		16-Nov									COSM3408309	16-Nov	.		ENST00000316549	Transcript	1		regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	ENSG00000181804	g.chr3:143212496T>C	20653			LOW								--	--	1																																			1	1			p.S438S	NM_173653	NP_775924			1	SL9A9_HUMAN	SLC9A9	HGNC	Q8IVB4	SL9A9_HUMAN					11	1496	-			UPI0000074664	438			Helical; (Potential).		SNV	SLC9A9,splice_region_variant,p.=,ENST00000316549,NM_173653.3;	uc003evn.2	c.1314A>G	1523/3627	3	3			c.1314A>G						3	SNP	c.(1312-1314)TCA>TCG	9	9			ovary(2)|skin(1)	3	Broad	solute carrier family 9 (sodium/hydrogen			143212496		0.403	ENSG00000181804	14493	g.chr3:143212496T>C	regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity							-11.640181	KEEP	2	1	-1	45	44	2	1	-1	6.878322	45	44	0.0375	1	0	0	0	0	0	0	1	0	--	--		0	C				94	GBM-06-5411-TP	p.S438S	T	TTCACATACCTGAAAACATCA	NM_173653	NP_775924	143212496	Q8IVB4	SL9A9_HUMAN	0			11	1496	-	C	C			Silent	438			Helical; (Potential).			
SLC9B2	133308	broad.mit.edu	GRCh37	4	103947532	103947532	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-5408-01	TCGA-06-5408-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394785.3:c.1609G>C	p.Val537Leu	p.V537L	ENST00000394785	NM_178833.4	537	Gtt/Ctt	0			1			G	V/L	uc003hwx.3	protein_coding		CCDS3662.1			1609/1614										0	c.(1609-1611)GTT>CTT				Na+/H+ exchanger domain containing 2				ENSP00000354574		13-Dec									COSM3408951,COSM3408952	13-Dec	.		ENST00000362026	Transcript			sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity	ENSG00000164038	g.chr4:103947532C>G	25143			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=SL9B2_HUMAN&rb=401&re=537&var=V537L	NA	getma.org/?cm=var&var=hg19,4,103947532,C,G&fts=all	V537L	--	--	1																																		NHEDC2_uc010iln.1_Intron|NHEDC2_uc003hwy.2_Missense_Mutation_p.V537L|NHEDC2_uc011cew.1_Missense_Mutation_p.V480L|NHEDC2_uc011cex.1_3'UTR	1,1			benign(0.004)	p.V537L	NM_178833	NP_849155		tolerated_low_confidence(0.23)	1,1	SL9B2_HUMAN	SLC9B2	HGNC	Q86UD5	NHDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.3e-08)	D6RGJ7_HUMAN		12	2481	-			UPI000020B27F	537					SNV	SLC9B2,missense_variant,p.Val537Leu,ENST00000394785,NM_178833.4;SLC9B2,missense_variant,p.Val537Leu,ENST00000362026,;SLC9B2,missense_variant,p.Val480Leu,ENST00000503230,;SLC9B2,3_prime_UTR_variant,,ENST00000503103,;SLC9B2,intron_variant,,ENST00000339611,;SLC9B2,intron_variant,,ENST00000506288,;	uc003hwx.3	c.1609G>C	1771/2300	4	4			c.1609G>C						4	SNP	c.(1609-1611)GTT>CTT	32	32				0	Broad	Na+/H+ exchanger domain containing 2			103947532		0.353	ENSG00000164038	10213	g.chr4:103947532C>G	sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity							-11.086419	KEEP	2	3	-1	60	45	2	3	-1	10.307503	60	45	0.042105	1	0	0	0	0	1	0	0	0	--	--		0	G			NHEDC2_uc010iln.1_Intron|NHEDC2_uc003hwy.2_Missense_Mutation_p.V537L|NHEDC2_uc011cew.1_Missense_Mutation_p.V480L|NHEDC2_uc011cex.1_3'UTR	92	GBM-06-5408-TP	p.V537L	C	CACCTCTAAACTTGCACAGAA	NM_178833	NP_849155	103947532	Q86UD5	NHDC2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;2.3e-08)	12	2481	-	G	G			Missense_Mutation	537						
SLC9C1	285335	broad.mit.edu	GRCh37	3	111887770	111887770	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-0033-01	TCGA-02-0033-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305815.5:c.3191G>A	p.Arg1064Gln	p.R1064Q	ENST00000305815	NM_183061.1	1064	cGa/cAa	0	T:0		1			T	R/Q	uc003dyu.2	protein_coding	YES	CCDS33817.1			3191/3534									ovary(3)|breast(2)	5	c.(3190-3192)CGA>CAA				sperm-specific sodium proton exchanger			T:0.0002	ENSP00000306627		25/29	6.59E-05			0.000579		3.03E-05		6.78E-05	rs377402243,COSM230998	25/29	common_variant		ENST00000305815	Transcript			cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	ENSG00000172139	g.chr3:111887770C>T	31401			MODERATE		0.97	low	getma.org/?cm=msa&ty=f&p=S9A10_HUMAN&rb=992&re=1177&var=R1064Q	NA	getma.org/?cm=var&var=hg19,3,111887770,C,T&fts=all	R1064Q	--	--	1																																		SLC9A10_uc011bhu.1_Missense_Mutation_p.R327Q|SLC9A10_uc010hqc.2_Missense_Mutation_p.R1016Q	0,1	1		benign(0.164)	p.R1064Q	NM_183061	NP_898884		tolerated(0.18)	0,1	SL9C1_HUMAN	SLC9C1	HGNC	Q4G0N8	S9A10_HUMAN			C9J3M6_HUMAN		25	3413	-			UPI00002372C5	1064					SNV	SLC9C1,missense_variant,p.Arg1064Gln,ENST00000305815,NM_183061.1;SLC9C1,missense_variant,p.Arg1016Gln,ENST00000487372,;SLC9C1,3_prime_UTR_variant,,ENST00000471295,;	uc003dyu.2	c.3191G>A	3444/4172	2	2			c.3191G>A						3	SNP	c.(3190-3192)CGA>CAA	24	24			ovary(3)|breast(2)	5	Broad	sperm-specific sodium proton exchanger			111887770		0.323	ENSG00000172139	14482	g.chr3:111887770C>T	cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity							124.567138	KEEP	36	24	-1	107	116	36	24	-1	142.535295	107	116	0.215768	1	0	0	0	0	1	0	0	0	--	--		0	T			SLC9A10_uc011bhu.1_Missense_Mutation_p.R327Q|SLC9A10_uc010hqc.2_Missense_Mutation_p.R1016Q	2	GBM-02-0033-TP	p.R1064Q	C	ATAAGTTTTTCGTAACAGACA	NM_183061	NP_898884	111887770	Q4G0N8	S9A10_HUMAN	0			25	3413	-	T	T			Missense_Mutation	1064						
SLC9C1	0	broad.mit.edu	GRCh37	3	111898484	111898484	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305815.5:c.2813C>T	p.Pro938Leu	p.P938L	ENST00000305815	NM_183061.1	938	cCg/cTg	0		A:0	1	A:0		A	P/L	uc003dyu.2	protein_coding	YES	CCDS33817.1			2813/3534									ovary(3)|breast(2)	5	c.(2812-2814)CCG>CTG			Gene3D:2.60.120.10,Pfam_domain:PF00027,PROSITE_profiles:PS50042,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF87,Superfamily_domains:SSF51206	sperm-specific sodium proton exchanger		A:0		ENSP00000306627	A:0	23/29	0.00135		0.00026	0.000116			0.0011	0.00964	rs572197977,COSM3408134	23/29	common_variant		ENST00000305815	Transcript		A:0.0012	cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	ENSG00000172139	g.chr3:111898484G>A	31401			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=S9A10_HUMAN&rb=888&re=991&var=P938L	getma.org/pdb.php?prot=S9A10_HUMAN&from=888&to=991&var=P938L	getma.org/?cm=var&var=hg19,3,111898484,G,A&fts=all	P938L	--	--	1																																		SLC9A10_uc011bhu.1_Missense_Mutation_p.P201L|SLC9A10_uc010hqc.2_Missense_Mutation_p.P890L	0,1	1		benign(0.007)	p.P938L	NM_183061	NP_898884	A:0.0061	tolerated(0.32)	0,1	SL9C1_HUMAN	SLC9C1	HGNC	Q4G0N8	S9A10_HUMAN			C9J3M6_HUMAN		23	3035	-			UPI00002372C5	938			cNMP.		SNV	SLC9C1,missense_variant,p.Pro938Leu,ENST00000305815,NM_183061.1;SLC9C1,missense_variant,p.Pro890Leu,ENST00000487372,;SLC9C1,3_prime_UTR_variant,,ENST00000471295,;	uc003dyu.2	c.2813C>T	3066/4172	1	1			c.2813C>T						3	SNP	c.(2812-2814)CCG>CTG	56	56			ovary(3)|breast(2)	5	Broad	sperm-specific sodium proton exchanger			111898484		0.358	ENSG00000172139	14482	g.chr3:111898484G>A	cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity							176.826707	KEEP	39	27	-1	64	49	39	27	-1	179.391821	64	49	0.36747	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC9A10_uc011bhu.1_Missense_Mutation_p.P201L|SLC9A10_uc010hqc.2_Missense_Mutation_p.P890L	131	GBM-12-5301-TP	p.P938L	G	GTCAATTATCGGAAAATCTTT	NM_183061	NP_898884	111898484	Q4G0N8	S9A10_HUMAN	0			23	3035	-	A	A			Missense_Mutation	938			cNMP.			
SLC9C1	0	broad.mit.edu	GRCh37	3	111997653	111997653	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1837-01	TCGA-27-1837-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305815.5:c.241C>T	p.Arg81Cys	p.R81C	ENST00000305815	NM_183061.1	81	Cgt/Tgt	0			1			A	R/C	uc003dyu.2	protein_coding	YES	CCDS33817.1			241/3534									ovary(3)|breast(2)	5	c.(241-243)CGT>TGT			Pfam_domain:PF00999,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF87,Transmembrane_helices:TMhelix	sperm-specific sodium proton exchanger				ENSP00000306627		29-Apr	1.65E-05					3.00E-05			rs749177716,COSM3408137	29-Apr	.		ENST00000305815	Transcript			cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	ENSG00000172139	g.chr3:111997653G>A	31401			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=S9A10_HUMAN&rb=18&re=424&var=R81C	NA	getma.org/?cm=var&var=hg19,3,111997653,G,A&fts=all	R81C	--	--	1																																		SLC9A10_uc011bhu.1_5'UTR|SLC9A10_uc010hqc.2_Missense_Mutation_p.R81C	0,1	1		benign(0.004)	p.R81C	NM_183061	NP_898884		tolerated(0.12)	0,1	SL9C1_HUMAN	SLC9C1	HGNC	Q4G0N8	S9A10_HUMAN			C9J3M6_HUMAN		4	463	-			UPI00002372C5	81			Helical; (Potential).		SNV	SLC9C1,missense_variant,p.Arg81Cys,ENST00000305815,NM_183061.1;SLC9C1,missense_variant,p.Arg81Cys,ENST00000487372,;SLC9C1,missense_variant,p.Arg8Cys,ENST00000486574,;SLC9C1,non_coding_transcript_exon_variant,,ENST00000467397,;SLC9C1,missense_variant,p.Arg81Cys,ENST00000471295,;	uc003dyu.2	c.241C>T	494/4172	1	1			c.241C>T						3	SNP	c.(241-243)CGT>TGT	53	53			ovary(3)|breast(2)	5	Broad	sperm-specific sodium proton exchanger			111997653		0.313	ENSG00000172139	14482	g.chr3:111997653G>A	cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity							148.343141	KEEP	28	32	-1	66	67	28	32	-1	152.769713	66	67	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC9A10_uc011bhu.1_5'UTR|SLC9A10_uc010hqc.2_Missense_Mutation_p.R81C	196	GBM-27-1837-TP	p.R81C	G	GTAAATATACGAAAAAATAAG	NM_183061	NP_898884	111997653	Q4G0N8	S9A10_HUMAN	0			4	463	-	A	A			Missense_Mutation	81			Helical; (Potential).			
SLC9C2	284525	broad.mit.edu	GRCh37	1	173505000	173505000	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0152-01	TCGA-06-0152-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367714.3:c.1744T>G	p.Cys582Gly	p.C582G	ENST00000367714	NM_178527.3	582	Tgt/Ggt	0			1			C	C/G	uc001giz.2	protein_coding	YES	CCDS1308.1			1744/3375									ovary(2)	2	c.(1744-1746)TGT>GGT			hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF91	solute carrier family 9, member 11				ENSP00000356687		15/28									COSM2149836	15/28	.		ENST00000367714	Transcript			sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	ENSG00000162753	g.chr1:173505000A>C	28664			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=S9A11_HUMAN&rb=429&re=628&var=C582G	NA	getma.org/?cm=var&var=hg19,1,173505000,A,C&fts=all	C582G	--	--	1																																		SLC9A11_uc009wwe.2_Missense_Mutation_p.C140G|SLC9A11_uc010pmq.1_Intron	1	1		benign(0.001)	p.C582G	NM_178527	NP_848622		tolerated(0.06)	1	SL9C2_HUMAN	SLC9C2	HGNC	Q5TAH2	S9A11_HUMAN			F5H342_HUMAN		15	2167	-			UPI0000197379	582					SNV	SLC9C2,missense_variant,p.Cys582Gly,ENST00000367714,NM_178527.3;SLC9C2,intron_variant,,ENST00000536496,;SLC9C2,non_coding_transcript_exon_variant,,ENST00000466087,;	uc001giz.2	c.1744T>G	2167/4428	3	3			c.1744T>G						1	SNP	c.(1744-1746)TGT>GGT	13	13			ovary(2)	2	Broad	solute carrier family 9, member 11			173505000		0.264	ENSG00000162753	14483	g.chr1:173505000A>C	sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity							140.761556	KEEP	19	27	-1	53	70	19	27	-1	147.828614	53	70	0.275641	1	0	0	0	0	1	0	0	0	--	--		0	C			SLC9A11_uc009wwe.2_Missense_Mutation_p.C140G|SLC9A11_uc010pmq.1_Intron	25	GBM-06-0152-TP	p.C582G	A	TTTTCTATACAATATTCCAAG	NM_178527	NP_848622	173505000	Q5TAH2	S9A11_HUMAN	0			15	2167	-	C	C			Missense_Mutation	582						
SLC9C2	0	broad.mit.edu	GRCh37	1	173552735	173552735	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-27-1831-01	TCGA-27-1831-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367714.3:c.550A>T	p.Ile184Phe	p.I184F	ENST00000367714	NM_178527.3	184	Att/Ttt	0			1			A	I/F	uc001giz.2	protein_coding	YES	CCDS1308.1			550/3375									ovary(2)	2	c.(550-552)ATT>TTT			Pfam_domain:PF00999,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF91,Transmembrane_helices:TMhelix	solute carrier family 9, member 11				ENSP00000356687		28-Jun									COSM3400008	28-Jun	.		ENST00000367714	Transcript			sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	ENSG00000162753	g.chr1:173552735T>A	28664			MODERATE		1.78	low	getma.org/?cm=msa&ty=f&p=S9A11_HUMAN&rb=32&re=428&var=I184F	NA	getma.org/?cm=var&var=hg19,1,173552735,T,A&fts=all	I184F	--	--	1																																		SLC9A11_uc010pmq.1_RNA	1	1		benign(0.211)	p.I184F	NM_178527	NP_848622		tolerated(0.05)	1	SL9C2_HUMAN	SLC9C2	HGNC	Q5TAH2	S9A11_HUMAN			F5H342_HUMAN		6	973	-			UPI0000197379	184			Helical; (Potential).		SNV	SLC9C2,missense_variant,p.Ile184Phe,ENST00000367714,NM_178527.3;SLC9C2,missense_variant,p.Ile82Phe,ENST00000536496,;RP3-436N22.3,intron_variant,,ENST00000431459,;	uc001giz.2	c.550A>T	973/4428	2	2			c.550A>T						1	SNP	c.(550-552)ATT>TTT	24	24			ovary(2)	2	Broad	solute carrier family 9, member 11			173552735		0.294	ENSG00000162753	14483	g.chr1:173552735T>A	sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity							137.973968	KEEP	22	25	-1	46	51	22	25	-1	140.966907	46	51	0.338462	1	0	0	0	0	1	0	0	0	--	--		0	A			SLC9A11_uc010pmq.1_RNA	190	GBM-27-1831-TP	p.I184F	T	TCTCCTCTAATGAGATCAATG	NM_178527	NP_848622	173552735	Q5TAH2	S9A11_HUMAN	0			6	973	-	A	A			Missense_Mutation	184			Helical; (Potential).			
SLC9C2	284525		GRCh37	1	173526582	173526582	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000367714.3:c.1112G>C	p.Trp371Ser	p.W371S	ENST00000367714	NM_178527.3	371	tGg/tCg	0																																																																																																																																																																																																																																												
SLCO1A2	6579		GRCh37	12	21457447	21457447	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000307378.6:c.503G>A	p.Arg168His	p.R168H	ENST00000307378	NM_134431.3	168	cGt/cAt	0																																																																																																																																																																																																																																												
SLCO1B3	0	broad.mit.edu	GRCh37	12	21036410	21036410	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01	TCGA-19-5951-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261196.2:c.1556C>T	p.Ala519Val	p.A519V	ENST00000261196		519	gCa/gTa	0			1			T	A/V	uc001rek.2	protein_coding		CCDS8684.1			1556/2109									large_intestine(2)|ovary(1)|skin(1)	4	c.(1555-1557)GCA>GTA			TIGRFAM_domain:TIGR00805,Pfam_domain:PF03137,hmmpanther:PTHR11388:SF89,hmmpanther:PTHR11388,PROSITE_profiles:PS50850	solute carrier organic anion transporter family,				ENSP00000261196		15-Dec	2.47E-05					1.50E-05		0.000121	rs778801571,COSM2156590	15-Dec	.		ENST00000261196	Transcript	1		bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	ENSG00000111700	g.chr12:21036410C>T	10961			MODERATE		1.73	low	getma.org/?cm=msa&ty=f&p=SO1B3_HUMAN&rb=27&re=622&var=A519V	NA	getma.org/?cm=var&var=hg19,12,21036410,C,T&fts=all	A519V	--	--	1																																		SLCO1B3_uc001rel.2_Missense_Mutation_p.A519V|SLCO1B3_uc010sil.1_Missense_Mutation_p.A519V|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.A344V	0,1			benign(0.341)	p.A519V	NM_019844	NP_062818		tolerated(0.21)	0,1	SO1B3_HUMAN	SLCO1B3	HGNC	Q9NPD5	SO1B3_HUMAN			F5H8K0_HUMAN		12	1682	+	Esophageal squamous(101;0.149)		UPI000013544A	519			Extracellular (Potential).		SNV	SLCO1B3,missense_variant,p.Ala519Val,ENST00000381545,NM_019844.3;SLCO1B3,missense_variant,p.Ala519Val,ENST00000261196,;LST3,missense_variant,p.Ala519Val,ENST00000540229,;SLCO1B3,missense_variant,p.Ala519Val,ENST00000553473,;SLCO1B3,missense_variant,p.Ala343Val,ENST00000544370,;LST3,intron_variant,,ENST00000381541,;SLCO1B7,intron_variant,,ENST00000554957,;	uc001rek.2	c.1556C>T	1682/2712	1	1			c.1556C>T						12	SNP	c.(1555-1557)GCA>GTA	16	16			large_intestine(2)|ovary(1)|skin(1)	4	Broad	solute carrier organic anion transporter family,			21036410		0.338	ENSG00000111700	14496	g.chr12:21036410C>T	bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity							38.565092	KEEP	7	10	-1	20	35	7	10	-1	42.740751	20	35	0.238806	1	0	0	0	0	1	0	0	0	--	--		0	T			SLCO1B3_uc001rel.2_Missense_Mutation_p.A519V|SLCO1B3_uc010sil.1_Missense_Mutation_p.A519V|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.A344V	171	GBM-19-5951-TP	p.A519V	C	AATTACTCAGCACACTTGGGT	NM_019844	NP_062818	21036410	Q9NPD5	SO1B3_HUMAN	0			12	1682	+	T	T	Esophageal squamous(101;0.149)		Missense_Mutation	519			Extracellular (Potential).			
SLCO2A1	0	broad.mit.edu	GRCh37	3	133653573	133653573	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs142805553	byFrequency	TCGA-26-5132-01	TCGA-26-5132-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310926.4:c.1916C>T	p.Ala639Val	p.A639V	ENST00000310926	NM_005630.2	639	gCg/gTg	0	A:0.0002		1			A	A/V	uc003eqa.3	protein_coding	YES	CCDS3084.1			1916/1932									central_nervous_system(1)	1	c.(1915-1917)GCG>GTG			hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF14	solute carrier organic anion transporter family,			A:0.0002	ENSP00000311291		14/14	4.94E-05	0.000193		0.000231		3.00E-05			rs142805553,COSM3122471	14/14	.		ENST00000310926	Transcript	1		sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	ENSG00000174640	g.chr3:133653573G>A	10955			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=SO2A1_HUMAN&rb=604&re=643&var=A639V	NA	getma.org/?cm=var&var=hg19,3,133653573,G,A&fts=all	A639V	--	--	1																																		SLCO2A1_uc003eqb.3_Missense_Mutation_p.A563V	0,1	1		benign(0.344)	p.A639V	NM_005630	NP_005621		deleterious(0.04)	0,1	SO2A1_HUMAN	SLCO2A1	HGNC	Q92959	SO2A1_HUMAN			Q4LEJ9_HUMAN		14	2190	-			UPI000013F0AD	639			Cytoplasmic (Potential).		SNV	SLCO2A1,missense_variant,p.Ala639Val,ENST00000310926,NM_005630.2;SLCO2A1,missense_variant,p.Ala563Val,ENST00000493729,;C3orf36,upstream_gene_variant,,ENST00000408895,NM_025041.2;SLCO2A1,3_prime_UTR_variant,,ENST00000481359,;	uc003eqa.3	c.1916C>T	2190/4223	1	1			c.1916C>T						3	SNP	c.(1915-1917)GCG>GTG	58	58			central_nervous_system(1)	1	Broad	solute carrier organic anion transporter family,			133653573		0.567	ENSG00000174640	14498	g.chr3:133653573G>A	sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding							-14.468883	KEEP	6	1	-1	58	57	6	1	-1	9.206374	58	57	0.046296	1	0	0	0	0	1	0	0	0	--	--		0	A			SLCO2A1_uc003eqb.3_Missense_Mutation_p.A563V	181	GBM-26-5132-TP	p.A639V	G	GAGGCCTGCCGCCTTCTGCAC	NM_005630	NP_005621	133653573	Q92959	SO2A1_HUMAN	0			14	2190	-	A	A			Missense_Mutation	639			Cytoplasmic (Potential).			
SLCO2B1	0	broad.mit.edu	GRCh37	11	74904384	74904384	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5207-01	TCGA-28-5207-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000289575.5:c.1197G>A	p.Glu399=	p.E399=	ENST00000289575	NM_007256.4	399	gaG/gaA	0			1			A	E	uc001owb.2	protein_coding	YES	CCDS8235.1			1197/2130									ovary(1)|breast(1)	2	c.(1195-1197)GAG>GAA			Gene3D:1.20.1250.20,Pfam_domain:PF03137,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF87,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00805	solute carrier organic anion transporter family,	Ergoloid mesylate(DB01049)			ENSP00000289575		14-Sep									COSM2157323	14-Sep	.		ENST00000289575	Transcript			sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	ENSG00000137491	g.chr11:74904384G>A	10962			LOW								--	--	1																																		SLCO2B1_uc010rrq.1_Silent_p.E144E|SLCO2B1_uc010rrr.1_Silent_p.E255E|SLCO2B1_uc010rrs.1_Silent_p.E283E|SLCO2B1_uc001owc.2_Silent_p.E172E|SLCO2B1_uc001owd.2_Silent_p.E377E	1	1			p.E399E	NM_007256	NP_009187			1	SO2B1_HUMAN	SLCO2B1	HGNC	O94956	SO2B1_HUMAN			E9PRW4_HUMAN,E9PN87_HUMAN,E9PIU9_HUMAN,E9PI53_HUMAN,E7ERN5_HUMAN,C7BWB7_HUMAN,C7BWB6_HUMAN,B4DJH3_HUMAN		9	1584	+			UPI000013DF8A	399			Extracellular (Potential).		SNV	SLCO2B1,synonymous_variant,p.=,ENST00000289575,NM_007256.4;SLCO2B1,synonymous_variant,p.=,ENST00000341411,;SLCO2B1,synonymous_variant,p.=,ENST00000454962,;SLCO2B1,synonymous_variant,p.=,ENST00000532236,;SLCO2B1,synonymous_variant,p.=,ENST00000428359,NM_001145211.2;SLCO2B1,synonymous_variant,p.=,ENST00000525650,NM_001145212.2;SLCO2B1,synonymous_variant,p.=,ENST00000531756,;SLCO2B1,upstream_gene_variant,,ENST00000530012,;SLCO2B1,upstream_gene_variant,,ENST00000528108,;	uc001owb.2	c.1197G>A	1592/4494	2	2			c.1197G>A						11	SNP	c.(1195-1197)GAG>GAA	31	31			ovary(1)|breast(1)	2	Broad	solute carrier organic anion transporter family,		Ergoloid mesylate(DB01049)	74904384		0.612	ENSG00000137491	14499	g.chr11:74904384G>A	sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity							146.311269	KEEP	30	31	-1	33	36	30	31	-1	146.678275	33	36	0.439655	1	0	0	0	0	0	0	1	0	--	--		0	A			SLCO2B1_uc010rrq.1_Silent_p.E144E|SLCO2B1_uc010rrr.1_Silent_p.E255E|SLCO2B1_uc010rrs.1_Silent_p.E283E|SLCO2B1_uc001owc.2_Silent_p.E172E|SLCO2B1_uc001owd.2_Silent_p.E377E	216	GBM-28-5207-TP	p.E399E	G	AGTTCCTGGAGCGCCAGTTTT	NM_007256	NP_009187	74904384	O94956	SO2B1_HUMAN	0			9	1584	+	A	A			Silent	399			Extracellular (Potential).			
SLCO2B1	11309		GRCh37	11	74876887	74876887	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000289575.5:c.341G>A	p.Arg114Gln	p.R114Q	ENST00000289575	NM_007256.4	114	cGa/cAa	0																																																																																																																																																																																																																																												
SLCO3A1	28232	broad.mit.edu	GRCh37	15	92663774	92663774	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-02-2486-01	TCGA-02-2486-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318445.6:c.1089A>C	p.Ala363=	p.A363=	ENST00000318445	NM_013272.3	363	gcA/gcC	0			1			C	A	uc002bqx.2	protein_coding	YES	CCDS10371.1			1089/2133									skin(1)	1	c.(1087-1089)GCA>GCC			Transmembrane_helices:TMhelix,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF9,Gene3D:1.20.1250.20,Pfam_domain:PF03137,TIGRFAM_domain:TIGR00805,Superfamily_domains:SSF103473	solute carrier organic anion transporter family,				ENSP00000320634		10-May									COSM3402023	10-May	.		ENST00000318445	Transcript			sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	ENSG00000176463	g.chr15:92663774A>C	10952			LOW								--	--	1																																		SLCO3A1_uc002bqy.2_Silent_p.A363A|SLCO3A1_uc010boc.1_RNA|SLCO3A1_uc002bqz.1_Silent_p.A305A	1	1			p.A363A	NM_013272	NP_037404			1	SO3A1_HUMAN	SLCO3A1	HGNC	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)				5	1290	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		UPI00001AF1F7	363			Helical; Name=7; (Potential).		SNV	SLCO3A1,synonymous_variant,p.=,ENST00000318445,NM_013272.3;SLCO3A1,synonymous_variant,p.=,ENST00000424469,NM_001145044.1;SLCO3A1,non_coding_transcript_exon_variant,,ENST00000555549,;SLCO3A1,non_coding_transcript_exon_variant,,ENST00000555769,;SLCO3A1,non_coding_transcript_exon_variant,,ENST00000553653,;	uc002bqx.2	c.1089A>C	1303/5115	4	4			c.1089A>C						15	SNP	c.(1087-1089)GCA>GCC	44	44			skin(1)	1	Broad	solute carrier organic anion transporter family,			92663774		0.567	ENSG00000176463	14500	g.chr15:92663774A>C	sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity							421.353711	KEEP	81	88	-1	169	171	81	88	-1	427.446421	169	171	0.364362	1	0	0	0	0	0	0	1	0	--	--		0	C			SLCO3A1_uc002bqy.2_Silent_p.A363A|SLCO3A1_uc010boc.1_RNA|SLCO3A1_uc002bqz.1_Silent_p.A305A	8	GBM-02-2486-TP	p.A363A	A	TGGAGATTGCAGTGGTGGCTG	NM_013272	NP_037404	92663774	Q9UIG8	SO3A1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(143;0.0841)		5	1290	+	C	C	Lung NSC(78;0.0158)|all_lung(78;0.0255)		Silent	363			Helical; Name=7; (Potential).			
SLCO3A1	0	broad.mit.edu	GRCh37	15	92690225	92690225	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318445.6:c.1524C>T	p.Gly508=	p.G508=	ENST00000318445	NM_013272.3	508	ggC/ggT	0			1			T	G	uc002bqx.2	protein_coding	YES	CCDS10371.1			1524/2133									skin(1)	1	c.(1522-1524)GGC>GGT			PROSITE_profiles:PS51465,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF9,Pfam_domain:PF07648,Pfam_domain:PF03137,TIGRFAM_domain:TIGR00805	solute carrier organic anion transporter family,				ENSP00000320634		10-Aug									COSM3402024	10-Aug	.		ENST00000318445	Transcript			sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	ENSG00000176463	g.chr15:92690225C>T	10952			LOW								--	--	1																																		SLCO3A1_uc002bqy.2_Silent_p.G508G|SLCO3A1_uc010boc.1_RNA|SLCO3A1_uc002bqz.1_Silent_p.G450G	1	1			p.G508G	NM_013272	NP_037404			1	SO3A1_HUMAN	SLCO3A1	HGNC	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)				8	1725	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		UPI00001AF1F7	508			Extracellular (Potential).|Kazal-like.		SNV	SLCO3A1,synonymous_variant,p.=,ENST00000318445,NM_013272.3;SLCO3A1,synonymous_variant,p.=,ENST00000424469,NM_001145044.1;RP11-152L20.3,downstream_gene_variant,,ENST00000561674,;SLCO3A1,non_coding_transcript_exon_variant,,ENST00000555549,;SLCO3A1,non_coding_transcript_exon_variant,,ENST00000555769,;SLCO3A1,missense_variant,p.Ala76Val,ENST00000555210,;SLCO3A1,missense_variant,p.Ala54Val,ENST00000555892,;SLCO3A1,non_coding_transcript_exon_variant,,ENST00000553653,;	uc002bqx.2	c.1524C>T	1738/5115	2	2			c.1524C>T						15	SNP	c.(1522-1524)GGC>GGT	17	17			skin(1)	1	Broad	solute carrier organic anion transporter family,			92690225		0.557	ENSG00000176463	14500	g.chr15:92690225C>T	sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity							86.586742	KEEP	17	18	-1	35	36	17	18	-1	88.75483	35	36	0.336957	1	0	0	0	0	0	0	1	0	--	--		0	T			SLCO3A1_uc002bqy.2_Silent_p.G508G|SLCO3A1_uc010boc.1_RNA|SLCO3A1_uc002bqz.1_Silent_p.G450G	129	GBM-12-5295-TP	p.G508G	C	ATCTCACGGGCTGTGCGTGCC	NM_013272	NP_037404	92690225	Q9UIG8	SO3A1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(143;0.0841)		8	1725	+	T	T	Lung NSC(78;0.0158)|all_lung(78;0.0255)		Silent	508			Extracellular (Potential).|Kazal-like.			
SLCO4A1	28231	broad.mit.edu	GRCh37	20	61299253	61299253	+	synonymous_variant	Silent	SNP	C	C	T	rs138089582	byFrequency	TCGA-02-2485-01	TCGA-02-2485-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217159.1:c.1629C>T	p.Asp543=	p.D543=	ENST00000217159	NM_016354.3	543	gaC/gaT	0	T:0.0034	T:0.003	1	T:0.0014		T	D	uc002ydb.1	protein_coding	YES	CCDS13501.1			1629/2169									ovary(1)	1	c.(1627-1629)GAC>GAT			Gene3D:3.30.60.30,Pfam_domain:PF03137,Pfam_domain:PF07648,PROSITE_profiles:PS50850,PROSITE_profiles:PS51465,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF66,Superfamily_domains:SSF100895,TIGRFAM_domain:TIGR00805	solute carrier organic anion transporter family		T:0	T:0.0008	ENSP00000217159	T:0	12-Aug	0.000741	0.00387	0.000432	0.000116	0.000151	0.000605	0.00111	6.06E-05	rs138089582,COSM3405260	12-Aug	common_variant		ENST00000217159	Transcript		T:0.0010	sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	ENSG00000101187	g.chr20:61299253C>T	10953			LOW								--	--	1																																		SLCO4A1_uc002ydc.1_RNA|LOC100127888_uc002ydd.2_5'Flank|SLCO4A1_uc002yde.1_Missense_Mutation_p.T3M	0,1	1			p.D543D	NM_016354	NP_057438	T:0		0,1	SO4A1_HUMAN	SLCO4A1	HGNC	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)				8	1834	+	Breast(26;3.65e-08)		UPI00000557C6	543			Extracellular (Potential).|Kazal-like.		SNV	SLCO4A1,missense_variant,p.Thr30Met,ENST00000451793,;SLCO4A1,synonymous_variant,p.=,ENST00000217159,NM_016354.3;SLCO4A1,synonymous_variant,p.=,ENST00000370507,;RP11-93B14.5,upstream_gene_variant,,ENST00000433126,;RP11-93B14.5,upstream_gene_variant,,ENST00000411824,;RP11-93B14.5,upstream_gene_variant,,ENST00000451648,;SLCO4A1,non_coding_transcript_exon_variant,,ENST00000470412,;SLCO4A1,non_coding_transcript_exon_variant,,ENST00000466961,;SLCO4A1,non_coding_transcript_exon_variant,,ENST00000495889,;SLCO4A1,upstream_gene_variant,,ENST00000466818,;SLCO4A1,upstream_gene_variant,,ENST00000497919,;SLCO4A1,synonymous_variant,p.=,ENST00000497209,;	uc002ydb.1	c.1629C>T	1834/2776	2	2			c.1629C>T						20	SNP	c.(1627-1629)GAC>GAT	17	17			ovary(1)	1	Broad	solute carrier organic anion transporter family			61299253		0.647	ENSG00000101187	14501	g.chr20:61299253C>T	sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	Pancreas(168;741 2006 10379 40139 45334)		402	Pancreas(168;741 2006 10379 40139 45334)		402	20.98781	KEEP	9	7	-1	44	30	9	7	-1	27.065173	44	30	0.177419	1	0	0	0	0	0	0	1	0	--	--		0	T			SLCO4A1_uc002ydc.1_RNA|LOC100127888_uc002ydd.2_5'Flank|SLCO4A1_uc002yde.1_Missense_Mutation_p.T3M	7	GBM-02-2485-TP	p.D543D	C	CGAATGTGGACGGCCAGAAGG	NM_016354	NP_057438	61299253	Q96BD0	SO4A1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		8	1834	+	T	T	Breast(26;3.65e-08)		Silent	543			Extracellular (Potential).|Kazal-like.			
SLCO4A1	0	broad.mit.edu	GRCh37	20	61297841	61297841	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5952-01	TCGA-19-5952-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217159.1:c.1386C>T	p.Thr462=	p.T462=	ENST00000217159	NM_016354.3	462	acC/acT	0			1			T	T	uc002ydb.1	protein_coding	YES	CCDS13501.1			1386/2169									ovary(1)	1	c.(1384-1386)ACC>ACT			Gene3D:1.20.1250.20,Pfam_domain:PF03137,PROSITE_profiles:PS50850,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF66,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00805	solute carrier organic anion transporter family				ENSP00000217159		12-Jul	2.47E-05					3.02E-05		6.06E-05	rs781683716,COSM2156700	12-Jul	.		ENST00000217159	Transcript			sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	ENSG00000101187	g.chr20:61297841C>T	10953			LOW								--	--	1																																		SLCO4A1_uc002ydc.1_RNA|LOC100127888_uc002ydd.2_RNA|SLCO4A1_uc002yde.1_5'Flank	0,1	1			p.T462T	NM_016354	NP_057438			0,1	SO4A1_HUMAN	SLCO4A1	HGNC	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)				7	1591	+	Breast(26;3.65e-08)		UPI00000557C6	462			Helical; Name=9; (Potential).		SNV	SLCO4A1,synonymous_variant,p.=,ENST00000217159,NM_016354.3;SLCO4A1,synonymous_variant,p.=,ENST00000370507,;SLCO4A1,upstream_gene_variant,,ENST00000451793,;RP11-93B14.5,non_coding_transcript_exon_variant,,ENST00000433126,;RP11-93B14.5,non_coding_transcript_exon_variant,,ENST00000411824,;RP11-93B14.5,non_coding_transcript_exon_variant,,ENST00000451648,;SLCO4A1,non_coding_transcript_exon_variant,,ENST00000470412,;SLCO4A1,upstream_gene_variant,,ENST00000466961,;SLCO4A1,upstream_gene_variant,,ENST00000466818,;SLCO4A1,upstream_gene_variant,,ENST00000495889,;SLCO4A1,upstream_gene_variant,,ENST00000497919,;SLCO4A1,synonymous_variant,p.=,ENST00000497209,;	uc002ydb.1	c.1386C>T	1591/2776	2	2			c.1386C>T						20	SNP	c.(1384-1386)ACC>ACT	17	17			ovary(1)	1	Broad	solute carrier organic anion transporter family			61297841		0.652	ENSG00000101187	14501	g.chr20:61297841C>T	sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	Pancreas(168;741 2006 10379 40139 45334)		402	Pancreas(168;741 2006 10379 40139 45334)		402	227.609995	KEEP	34	53	-1	84	114	34	53	-1	235.893455	84	114	0.306452	1	0	0	0	0	0	0	1	0	--	--		0	T			SLCO4A1_uc002ydc.1_RNA|LOC100127888_uc002ydd.2_RNA|SLCO4A1_uc002yde.1_5'Flank	172	GBM-19-5952-TP	p.T462T	C	TGTTCTGCACCGTTGTCAGCC	NM_016354	NP_057438	61297841	Q96BD0	SO4A1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		7	1591	+	T	T	Breast(26;3.65e-08)		Silent	462			Helical; Name=9; (Potential).			
SLCO4A1	0	broad.mit.edu	GRCh37	20	61291766	61291766	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01	TCGA-27-2523-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217159.1:c.890C>T	p.Thr297Met	p.T297M	ENST00000217159	NM_016354.3	297	aCg/aTg	0	T:0		1			T	T/M	uc002ydb.1	protein_coding	YES	CCDS13501.1			890/2169									ovary(1)	1	c.(889-891)ACG>ATG			Gene3D:1.20.1250.20,Pfam_domain:PF03137,PROSITE_profiles:PS50850,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF66,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00805	solute carrier organic anion transporter family			T:0.0001	ENSP00000217159		12-Apr	6.59E-05					0.000109		6.15E-05	rs373121417,COSM369671	12-Apr	.		ENST00000217159	Transcript			sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	ENSG00000101187	g.chr20:61291766C>T	10953			MODERATE		3.06	medium	getma.org/?cm=msa&ty=f&p=SO4A1_HUMAN&rb=102&re=664&var=T297M	NA	getma.org/?cm=var&var=hg19,20,61291766,C,T&fts=all	T297M	--	--	1																																		SLCO4A1_uc002ydc.1_RNA	0,1	1		possibly_damaging(0.719)	p.T297M	NM_016354	NP_057438		tolerated(0.11)	0,1	SO4A1_HUMAN	SLCO4A1	HGNC	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)				4	1095	+	Breast(26;3.65e-08)		UPI00000557C6	297			Extracellular (Potential).		SNV	SLCO4A1,missense_variant,p.Thr297Met,ENST00000217159,NM_016354.3;SLCO4A1,missense_variant,p.Thr297Met,ENST00000370507,;RP11-93B14.5,downstream_gene_variant,,ENST00000433126,;RP11-93B14.5,downstream_gene_variant,,ENST00000411824,;RP11-93B14.5,downstream_gene_variant,,ENST00000451648,;SLCO4A1,missense_variant,p.Thr297Met,ENST00000497209,;	uc002ydb.1	c.890C>T	1095/2776	2	2			c.890C>T						20	SNP	c.(889-891)ACG>ATG	30	30			ovary(1)	1	Broad	solute carrier organic anion transporter family			61291766		0.687	ENSG00000101187	14501	g.chr20:61291766C>T	sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	Pancreas(168;741 2006 10379 40139 45334)	p.T297M(CW2-Tumor)	402	Pancreas(168;741 2006 10379 40139 45334)	p.T297M(CW2-Tumor)	402	27.172497	KEEP	8	7	-1	20	32	8	7	-1	30.627503	20	32	0.230769	1	0	0	0	0	1	0	0	0	--	--		0	T			SLCO4A1_uc002ydc.1_RNA	201	GBM-27-2523-TP	p.T297M	C	TTCCACAGGACGGAGCTGACC	NM_016354	NP_057438	61291766	Q96BD0	SO4A1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		4	1095	+	T	T	Breast(26;3.65e-08)		Missense_Mutation	297			Extracellular (Potential).			
SLCO4A1	0	broad.mit.edu	GRCh37	20	61288142	61288142	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-2524-01	TCGA-27-2524-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217159.1:c.336C>T	p.Ala112=	p.A112=	ENST00000217159	NM_016354.3	112	gcC/gcT	0			1			T	A	uc002ydb.1	protein_coding	YES	CCDS13501.1			336/2169									ovary(1)	1	c.(334-336)GCC>GCT			Gene3D:1.20.1250.20,Pfam_domain:PF03137,PROSITE_profiles:PS50850,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF66,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00805,Transmembrane_helices:TMhelix	solute carrier organic anion transporter family				ENSP00000217159		12-Feb	8.24E-06					1.55E-05			rs757177474,COSM3405259	12-Feb	.		ENST00000217159	Transcript			sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	ENSG00000101187	g.chr20:61288142C>T	10953			LOW								--	--	1																																		SLCO4A1_uc002ydc.1_RNA	0,1	1			p.A112A	NM_016354	NP_057438			0,1	SO4A1_HUMAN	SLCO4A1	HGNC	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)				2	541	+	Breast(26;3.65e-08)		UPI00000557C6	112			Helical; Name=1; (Potential).		SNV	SLCO4A1,synonymous_variant,p.=,ENST00000217159,NM_016354.3;SLCO4A1,synonymous_variant,p.=,ENST00000370507,;SLCO4A1,synonymous_variant,p.=,ENST00000497209,;	uc002ydb.1	c.336C>T	541/2776	2	2			c.336C>T						20	SNP	c.(334-336)GCC>GCT	26	26			ovary(1)	1	Broad	solute carrier organic anion transporter family			61288142		0.647	ENSG00000101187	14501	g.chr20:61288142C>T	sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	Pancreas(168;741 2006 10379 40139 45334)		402	Pancreas(168;741 2006 10379 40139 45334)		402	77.256248	KEEP	17	14	-1	32	24	17	14	-1	78.97523	32	24	0.337838	1	0	0	0	0	0	0	1	0	--	--		0	T			SLCO4A1_uc002ydc.1_RNA	202	GBM-27-2524-TP	p.A112A	C	TGTGTGCGGCCGCATTCCTGC	NM_016354	NP_057438	61288142	Q96BD0	SO4A1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		2	541	+	T	T	Breast(26;3.65e-08)		Silent	112			Helical; Name=1; (Potential).			
SLCO4C1	353189		GRCh37	5	101599411	101599411	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000310954.6:c.876C>T	p.Tyr292=	p.Y292=	ENST00000310954	NM_180991.4	292	taC/taT	0																																																																																																																																																																																																																																												
SLCO5A1	81796	broad.mit.edu	GRCh37	8	70594552	70594552	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01	TCGA-02-2483-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260126.4:c.1649A>G	p.Asn550Ser	p.N550S	ENST00000260126	NM_030958.2	550	aAt/aGt	0			1			C	N/S	uc003xyl.2	protein_coding	YES	CCDS6205.1			1649/2547									ovary(3)|upper_aerodigestive_tract(1)	4	c.(1648-1650)AAT>AGT			Pfam_domain:PF03137,PROSITE_profiles:PS50850,PROSITE_profiles:PS51465,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF86,Superfamily_domains:SSF100895,TIGRFAM_domain:TIGR00805	solute carrier organic anion transporter family,				ENSP00000260126		10-Jul									COSM3413100	10-Jul	.		ENST00000260126	Transcript				integral to membrane|plasma membrane	transporter activity	ENSG00000137571	g.chr8:70594552T>C	19046			MODERATE		0.63	neutral	getma.org/?cm=msa&ty=f&p=SO5A1_HUMAN&rb=127&re=735&var=N550S	NA	getma.org/?cm=var&var=hg19,8,70594552,T,C&fts=all	N550S	--	--	1																																		SLCO5A1_uc010lzb.2_Missense_Mutation_p.N495S|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.N550S	1	1		possibly_damaging(0.604)	p.N550S	NM_030958	NP_112220		deleterious(0.01)	1	SO5A1_HUMAN	SLCO5A1	HGNC	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)				7	2356	-	Breast(64;0.0654)		UPI0000140F53	550			Extracellular (Potential).|Kazal-like.		SNV	SLCO5A1,missense_variant,p.Asn550Ser,ENST00000260126,NM_030958.2;SLCO5A1,missense_variant,p.Asn550Ser,ENST00000524945,NM_001146008.1;SLCO5A1,missense_variant,p.Asn495Ser,ENST00000530307,NM_001146009.1;SLCO5A1,missense_variant,p.Ile312Val,ENST00000526750,;	uc003xyl.2	c.1649A>G	2356/9076	3	3			c.1649A>G						8	SNP	c.(1648-1650)AAT>AGT	3	3			ovary(3)|upper_aerodigestive_tract(1)	4	Broad	solute carrier organic anion transporter family,			70594552		0.403	ENSG00000137571	14503	g.chr8:70594552T>C		integral to membrane|plasma membrane	transporter activity							3.847899	KEEP	13	6	-1	132	135	13	6	-1	50.46138	132	135	0.072581	1	0	0	0	0	1	0	0	0	--	--		0	C			SLCO5A1_uc010lzb.2_Missense_Mutation_p.N495S|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.N550S	6	GBM-02-2483-TP	p.N550S	T	TCCTGTCAGATTCCTATGGGG	NM_030958	NP_112220	70594552	Q9H2Y9	SO5A1_HUMAN	0	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		7	2356	-	C	C	Breast(64;0.0654)		Missense_Mutation	550			Extracellular (Potential).|Kazal-like.			
SLCO5A1	81796	broad.mit.edu	GRCh37	8	70667821	70667821	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0122-01	TCGA-06-0122-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260126.4:c.1096T>A	p.Phe366Ile	p.F366I	ENST00000260126	NM_030958.2	366	Ttt/Att	0			1			T	F/I	uc003xyl.2	protein_coding	YES	CCDS6205.1			1096/2547									ovary(3)|upper_aerodigestive_tract(1)	4	c.(1096-1098)TTT>ATT			Gene3D:1.20.1250.20,Pfam_domain:PF03137,PROSITE_profiles:PS50850,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF86,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00805,Transmembrane_helices:TMhelix	solute carrier organic anion transporter family,				ENSP00000260126		10-Apr									COSM2149176	10-Apr	.		ENST00000260126	Transcript				integral to membrane|plasma membrane	transporter activity	ENSG00000137571	g.chr8:70667821A>T	19046			MODERATE		1.94	medium	getma.org/?cm=msa&ty=f&p=SO5A1_HUMAN&rb=127&re=735&var=F366I	NA	getma.org/?cm=var&var=hg19,8,70667821,A,T&fts=all	F366I	--	--	1																																		SLCO5A1_uc010lzb.2_Missense_Mutation_p.F366I|SLCO5A1_uc011lfa.1_Intron|SLCO5A1_uc003xyk.2_Missense_Mutation_p.F366I|SLCO5A1_uc010lzc.2_Missense_Mutation_p.F366I	1	1		possibly_damaging(0.781)	p.F366I	NM_030958	NP_112220		deleterious(0)	1	SO5A1_HUMAN	SLCO5A1	HGNC	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)				4	1803	-	Breast(64;0.0654)		UPI0000140F53	366			Helical; Name=6; (Potential).		SNV	SLCO5A1,missense_variant,p.Phe366Ile,ENST00000260126,NM_030958.2;SLCO5A1,missense_variant,p.Phe366Ile,ENST00000524945,NM_001146008.1;SLCO5A1,missense_variant,p.Phe366Ile,ENST00000530307,NM_001146009.1;SLCO5A1,non_coding_transcript_exon_variant,,ENST00000532388,;SLCO5A1,intron_variant,,ENST00000526750,;	uc003xyl.2	c.1096T>A	1803/9076	1	1			c.1096T>A						8	SNP	c.(1096-1098)TTT>ATT	8	8			ovary(3)|upper_aerodigestive_tract(1)	4	Broad	solute carrier organic anion transporter family,			70667821		0.353	ENSG00000137571	14503	g.chr8:70667821A>T		integral to membrane|plasma membrane	transporter activity							67.143379	KEEP	14	13	-1	18	12	14	13	-1	67.352554	18	12	0.431373	1	0	0	0	0	1	0	0	0	--	--		0	T			SLCO5A1_uc010lzb.2_Missense_Mutation_p.F366I|SLCO5A1_uc011lfa.1_Intron|SLCO5A1_uc003xyk.2_Missense_Mutation_p.F366I|SLCO5A1_uc010lzc.2_Missense_Mutation_p.F366I	10	GBM-06-0122-TP	p.F366I	A	GGGAAAGTAAACATTGGGAAT	NM_030958	NP_112220	70667821	Q9H2Y9	SO5A1_HUMAN	0	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		4	1803	-	T	T	Breast(64;0.0654)		Missense_Mutation	366			Helical; Name=6; (Potential).			
SLCO5A1	81796	broad.mit.edu	GRCh37	8	70594493	70594493	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0168-01	TCGA-06-0168-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260126.4:c.1708T>A	p.Cys570Ser	p.C570S	ENST00000260126	NM_030958.2	570	Tgt/Agt	0			1			T	C/S	uc003xyl.2	protein_coding	YES	CCDS6205.1			1708/2547									ovary(3)|upper_aerodigestive_tract(1)	4	c.(1708-1710)TGT>AGT			Gene3D:3.30.60.30,Pfam_domain:PF03137,Pfam_domain:PF07648,PROSITE_profiles:PS50850,PROSITE_profiles:PS51465,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF86,Superfamily_domains:SSF100895,TIGRFAM_domain:TIGR00805	solute carrier organic anion transporter family,				ENSP00000260126		10-Jul									COSM2150208	10-Jul	.		ENST00000260126	Transcript				integral to membrane|plasma membrane	transporter activity	ENSG00000137571	g.chr8:70594493A>T	19046			MODERATE		4.235	high	getma.org/?cm=msa&ty=f&p=SO5A1_HUMAN&rb=561&re=603&var=C570S	NA	getma.org/?cm=var&var=hg19,8,70594493,A,T&fts=all	C570S	--	--	1																																		SLCO5A1_uc010lzb.2_Missense_Mutation_p.C515S|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.C570S	1	1		probably_damaging(1)	p.C570S	NM_030958	NP_112220		deleterious(0)	1	SO5A1_HUMAN	SLCO5A1	HGNC	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)				7	2415	-	Breast(64;0.0654)		UPI0000140F53	570			Extracellular (Potential).|Kazal-like.		SNV	SLCO5A1,missense_variant,p.Cys570Ser,ENST00000260126,NM_030958.2;SLCO5A1,missense_variant,p.Cys570Ser,ENST00000524945,NM_001146008.1;SLCO5A1,missense_variant,p.Cys515Ser,ENST00000530307,NM_001146009.1;SLCO5A1,3_prime_UTR_variant,,ENST00000526750,;	uc003xyl.2	c.1708T>A	2415/9076	1	1			c.1708T>A						8	SNP	c.(1708-1710)TGT>AGT	16	16			ovary(3)|upper_aerodigestive_tract(1)	4	Broad	solute carrier organic anion transporter family,			70594493		0.428	ENSG00000137571	14503	g.chr8:70594493A>T		integral to membrane|plasma membrane	transporter activity							122.649852	KEEP	19	25	-1	57	71	19	25	-1	130.375285	57	71	0.26875	1	0	0	0	0	1	0	0	0	--	--		0	T			SLCO5A1_uc010lzb.2_Missense_Mutation_p.C515S|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.C570S	33	GBM-06-0168-TP	p.C570S	A	TCTGATCCACAGACTGGCTCA	NM_030958	NP_112220	70594493	Q9H2Y9	SO5A1_HUMAN	0	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		7	2415	-	T	T	Breast(64;0.0654)		Missense_Mutation	570			Extracellular (Potential).|Kazal-like.			
SLCO5A1	81796	broad.mit.edu	GRCh37	8	70744582	70744582	+	synonymous_variant	Silent	SNP	G	G	A	rs145247874		TCGA-06-0877-01	TCGA-06-0877-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260126.4:c.327C>T	p.Ser109=	p.S109=	ENST00000260126	NM_030958.2	109	tcC/tcT	0	A:0.0002		1			A	S	uc003xyl.2	protein_coding	YES	CCDS6205.1			327/2547									ovary(3)|upper_aerodigestive_tract(1)	4	c.(325-327)TCC>TCT			hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF86	solute carrier organic anion transporter family,			A:0.0001	ENSP00000260126		10-Feb	0.000247	9.61E-05	0.000173			0.000375	0.00111	6.10E-05	rs145247874,COSM2152193	10-Feb	.		ENST00000260126	Transcript				integral to membrane|plasma membrane	transporter activity	ENSG00000137571	g.chr8:70744582G>A	19046			LOW								--	--	1																																OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	SLCO5A1_uc010lzb.2_Silent_p.S109S|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Silent_p.S109S|SLCO5A1_uc010lzc.2_Silent_p.S109S	0,1	1			p.S109S	NM_030958	NP_112220			0,1	SO5A1_HUMAN	SLCO5A1	HGNC	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)				2	1034	-	Breast(64;0.0654)		UPI0000140F53	109			Cytoplasmic (Potential).		SNV	SLCO5A1,synonymous_variant,p.=,ENST00000260126,NM_030958.2;SLCO5A1,synonymous_variant,p.=,ENST00000524945,NM_001146008.1;SLCO5A1,synonymous_variant,p.=,ENST00000530307,NM_001146009.1;RP11-159H10.3,upstream_gene_variant,,ENST00000528800,;RP11-159H10.3,upstream_gene_variant,,ENST00000501104,;RP11-159H10.3,upstream_gene_variant,,ENST00000533300,;SLCO5A1,non_coding_transcript_exon_variant,,ENST00000528658,;SLCO5A1,downstream_gene_variant,,ENST00000531422,;SLCO5A1,downstream_gene_variant,,ENST00000524703,;SLCO5A1,synonymous_variant,p.=,ENST00000526750,;SLCO5A1,non_coding_transcript_exon_variant,,ENST00000532388,;	uc003xyl.2	c.327C>T	1034/9076	2	2			c.327C>T						8	SNP	c.(325-327)TCC>TCT	44	44			ovary(3)|upper_aerodigestive_tract(1)	4	Broad	solute carrier organic anion transporter family,			70744582		0.622	ENSG00000137571	14503	g.chr8:70744582G>A		integral to membrane|plasma membrane	transporter activity							95.135864	KEEP	17	20	-1	38	51	17	20	-1	99.211177	38	51	0.297297	1	0	0	0	0	0	0	1	0	--	--		0	A	OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	SLCO5A1_uc010lzb.2_Silent_p.S109S|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Silent_p.S109S|SLCO5A1_uc010lzc.2_Silent_p.S109S	73	GBM-06-0877-TP	p.S109S	G	TGGCCAAGGCGGAGGACACCG	NM_030958	NP_112220	70744582	Q9H2Y9	SO5A1_HUMAN	0	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		2	1034	-	A	A	Breast(64;0.0654)		Silent	109			Cytoplasmic (Potential).			
SLCO5A1	0	broad.mit.edu	GRCh37	8	70744225	70744225	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260126.4:c.684C>T	p.Asn228=	p.N228=	ENST00000260126	NM_030958.2	228	aaC/aaT	0			1			A	N	uc003xyl.2	protein_coding	YES	CCDS6205.1			684/2547									ovary(3)|upper_aerodigestive_tract(1)	4	c.(682-684)AAC>AAT			Pfam_domain:PF03137,PROSITE_profiles:PS50850,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF86,TIGRFAM_domain:TIGR00805	solute carrier organic anion transporter family,				ENSP00000260126		10-Feb	1.65E-05					3.13E-05			rs765328168,COSM2154804	10-Feb	.		ENST00000260126	Transcript				integral to membrane|plasma membrane	transporter activity	ENSG00000137571	g.chr8:70744225G>A	19046			LOW								--	--	1																																		SLCO5A1_uc010lzb.2_Silent_p.N228N|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Silent_p.N228N|SLCO5A1_uc010lzc.2_Silent_p.N228N	0,1	1			p.N228N	NM_030958	NP_112220			0,1	SO5A1_HUMAN	SLCO5A1	HGNC	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)				2	1391	-	Breast(64;0.0654)		UPI0000140F53	228			Extracellular (Potential).		SNV	SLCO5A1,synonymous_variant,p.=,ENST00000260126,NM_030958.2;SLCO5A1,synonymous_variant,p.=,ENST00000524945,NM_001146008.1;SLCO5A1,synonymous_variant,p.=,ENST00000530307,NM_001146009.1;RP11-159H10.3,upstream_gene_variant,,ENST00000528800,;RP11-159H10.3,upstream_gene_variant,,ENST00000501104,;RP11-159H10.3,upstream_gene_variant,,ENST00000533300,;SLCO5A1,non_coding_transcript_exon_variant,,ENST00000528658,;SLCO5A1,downstream_gene_variant,,ENST00000531422,;SLCO5A1,downstream_gene_variant,,ENST00000524703,;SLCO5A1,synonymous_variant,p.=,ENST00000526750,;SLCO5A1,non_coding_transcript_exon_variant,,ENST00000532388,;	uc003xyl.2	c.684C>T	1391/9076	1	1			c.684C>T						8	SNP	c.(682-684)AAC>AAT	58	58			ovary(3)|upper_aerodigestive_tract(1)	4	Broad	solute carrier organic anion transporter family,			70744225		0.637	ENSG00000137571	14503	g.chr8:70744225G>A		integral to membrane|plasma membrane	transporter activity							98.870589	KEEP	18	15	-1	17	22	18	15	-1	98.873882	17	22	0.492537	1	0	0	0	0	0	0	1	0	--	--		0	A			SLCO5A1_uc010lzb.2_Silent_p.N228N|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Silent_p.N228N|SLCO5A1_uc010lzc.2_Silent_p.N228N	139	GBM-14-0817-TP	p.N228N	G	GGGCCGAGGCGTTCAACTCTT	NM_030958	NP_112220	70744225	Q9H2Y9	SO5A1_HUMAN	0	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		2	1391	-	A	A	Breast(64;0.0654)		Silent	228			Extracellular (Potential).			
SLCO5A1	0	broad.mit.edu	GRCh37	8	70667740	70667740	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01	TCGA-26-5135-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260126.4:c.1177G>A	p.Asp393Asn	p.D393N	ENST00000260126	NM_030958.2	393	Gat/Aat	0			1			T	D/N	uc003xyl.2	protein_coding	YES	CCDS6205.1			1177/2547									ovary(3)|upper_aerodigestive_tract(1)	4	c.(1177-1179)GAT>AAT			Pfam_domain:PF03137,PROSITE_profiles:PS50850,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF86,TIGRFAM_domain:TIGR00805	solute carrier organic anion transporter family,				ENSP00000260126		10-Apr	1.65E-05							0.000121	rs749034973,COSM233442	10-Apr	.		ENST00000260126	Transcript				integral to membrane|plasma membrane	transporter activity	ENSG00000137571	g.chr8:70667740C>T	19046			MODERATE		0.71	neutral	getma.org/?cm=msa&ty=f&p=SO5A1_HUMAN&rb=127&re=735&var=D393N	NA	getma.org/?cm=var&var=hg19,8,70667740,C,T&fts=all	D393N	--	--	1																																		SLCO5A1_uc010lzb.2_Missense_Mutation_p.D393N|SLCO5A1_uc011lfa.1_Intron|SLCO5A1_uc003xyk.2_Missense_Mutation_p.D393N|SLCO5A1_uc010lzc.2_Missense_Mutation_p.D393N	0,1	1		benign(0.029)	p.D393N	NM_030958	NP_112220		tolerated(0.19)	0,1	SO5A1_HUMAN	SLCO5A1	HGNC	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)				4	1884	-	Breast(64;0.0654)		UPI0000140F53	393			Cytoplasmic (Potential).		SNV	SLCO5A1,missense_variant,p.Asp393Asn,ENST00000260126,NM_030958.2;SLCO5A1,missense_variant,p.Asp393Asn,ENST00000524945,NM_001146008.1;SLCO5A1,missense_variant,p.Asp393Asn,ENST00000530307,NM_001146009.1;SLCO5A1,non_coding_transcript_exon_variant,,ENST00000532388,;SLCO5A1,intron_variant,,ENST00000526750,;	uc003xyl.2	c.1177G>A	1884/9076	2	2			c.1177G>A						8	SNP	c.(1177-1179)GAT>AAT	48	48			ovary(3)|upper_aerodigestive_tract(1)	4	Broad	solute carrier organic anion transporter family,			70667740		0.363	ENSG00000137571	14503	g.chr8:70667740C>T		integral to membrane|plasma membrane	transporter activity							163.397822	KEEP	25	32	-1	35	48	25	32	-1	164.484241	35	48	0.404412	1	0	0	0	0	1	0	0	0	--	--		0	T			SLCO5A1_uc010lzb.2_Missense_Mutation_p.D393N|SLCO5A1_uc011lfa.1_Intron|SLCO5A1_uc003xyk.2_Missense_Mutation_p.D393N|SLCO5A1_uc010lzc.2_Missense_Mutation_p.D393N	184	GBM-26-5135-TP	p.D393N	C	TTCAGAACATCGTCATCACTA	NM_030958	NP_112220	70667740	Q9H2Y9	SO5A1_HUMAN	0	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		4	1884	-	T	T	Breast(64;0.0654)		Missense_Mutation	393			Cytoplasmic (Potential).			
SLCO5A1	81796		GRCh37	8	70585394	70585394	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000260126.4:c.2257A>G	p.Ile753Val	p.I753V	ENST00000260126	NM_030958.2	753	Att/Gtt	0																																																																																																																																																																																																																																												
SLCO5A1	81796		GRCh37	8	70617355	70617355	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000260126.4:c.1533T>C	p.Ser511=	p.S511=	ENST00000260126	NM_030958.2	511	agT/agC	0																																																																																																																																																																																																																																												
SLCO6A1	133482	broad.mit.edu	GRCh37	5	101735262	101735262	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs139495343	by1000genomes	TCGA-02-2485-01	TCGA-02-2485-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000506729.1:c.1811C>T	p.Thr604Met	p.T604M	ENST00000506729		604	aCg/aTg	0		A:0.0008	1	A:0		A	T/M	uc003knn.2	protein_coding		CCDS34206.1			1811/2160									ovary(3)|skin(3)|central_nervous_system(1)	7	c.(1810-1812)ACG>ATG			Gene3D:1.20.1250.20,Pfam_domain:PF03137,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF3,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00805	solute carrier organic anion transporter family,		A:0		ENSP00000369135	A:0	14-Oct	5.77E-05	0.000101	0.000176			6.20E-05			rs139495343,COSM3409646	14-Oct	.		ENST00000379807	Transcript		A:0.0002		integral to membrane|plasma membrane	transporter activity	ENSG00000205359	g.chr5:101735262G>A	23613			MODERATE		-1.1	neutral	getma.org/?cm=msa&ty=f&p=SO6A1_HUMAN&rb=105&re=666&var=T604M	NA	getma.org/?cm=var&var=hg19,5,101735262,G,A&fts=all	T604M	--	--	1																																		SLCO6A1_uc003kno.2_Missense_Mutation_p.T351M|SLCO6A1_uc003knp.2_Missense_Mutation_p.T604M|SLCO6A1_uc003knq.2_Missense_Mutation_p.T542M	0,1			benign(0.01)	p.T604M	NM_173488	NP_775759	A:0	tolerated(0.13)	0,1	SO6A1_HUMAN	SLCO6A1	HGNC	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	H0Y8R6_HUMAN,D3DSZ4_HUMAN		10	1983	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	UPI000020C392	604			Helical; Name=10; (Potential).		SNV	SLCO6A1,missense_variant,p.Thr604Met,ENST00000506729,;SLCO6A1,missense_variant,p.Thr604Met,ENST00000379807,NM_173488.3;SLCO6A1,missense_variant,p.Thr542Met,ENST00000389019,;SLCO6A1,missense_variant,p.Thr351Met,ENST00000379810,;SLCO6A1,missense_variant,p.Thr351Met,ENST00000513675,;	uc003knn.2	c.1811C>T	1946/2437	1	1			c.1811C>T						5	SNP	c.(1810-1812)ACG>ATG	62	62			ovary(3)|skin(3)|central_nervous_system(1)	7	Broad	solute carrier organic anion transporter family,			101735262		0.284	ENSG00000205359	14504	g.chr5:101735262G>A		integral to membrane|plasma membrane	transporter activity							40.437729	KEEP	5	9	-1	15	14	5	9	-1	41.348271	15	14	0.341463	1	0	0	0	0	1	0	0	0	--	--		0	A			SLCO6A1_uc003kno.2_Missense_Mutation_p.T351M|SLCO6A1_uc003knp.2_Missense_Mutation_p.T604M|SLCO6A1_uc003knq.2_Missense_Mutation_p.T542M	7	GBM-02-2485-TP	p.T604M	G	TACATACCGCGTCATGGCCAA	NM_173488	NP_775759	101735262	Q86UG4	SO6A1_HUMAN	0		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	10	1983	-	A	A		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	Missense_Mutation	604			Helical; Name=10; (Potential).			
SLCO6A1	133482	broad.mit.edu	GRCh37	5	101834438	101834438	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0219-01	TCGA-06-0219-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000506729.1:c.111A>G	p.Gly37=	p.G37=	ENST00000506729		37	ggA/ggG	0			1			C	G	uc003knn.2	protein_coding		CCDS34206.1			111/2160									ovary(3)|skin(3)|central_nervous_system(1)	7	c.(109-111)GGA>GGG			hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF3,Low_complexity_(Seg):seg	solute carrier organic anion transporter family,				ENSP00000369135		14-Jan									COSM2150959	14-Jan	.		ENST00000379807	Transcript				integral to membrane|plasma membrane	transporter activity	ENSG00000205359	g.chr5:101834438T>C	23613			LOW								--	--	1																																		SLCO6A1_uc003kno.2_Silent_p.G37G|SLCO6A1_uc003knp.2_Silent_p.G37G|SLCO6A1_uc003knq.2_Silent_p.G37G	1				p.G37G	NM_173488	NP_775759			1	SO6A1_HUMAN	SLCO6A1	HGNC	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	H0Y8R6_HUMAN,D3DSZ4_HUMAN		1	283	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	UPI000020C392	37			Cytoplasmic (Potential).		SNV	SLCO6A1,synonymous_variant,p.=,ENST00000506729,;SLCO6A1,synonymous_variant,p.=,ENST00000379807,NM_173488.3;SLCO6A1,synonymous_variant,p.=,ENST00000389019,;SLCO6A1,synonymous_variant,p.=,ENST00000379810,;SLCO6A1,synonymous_variant,p.=,ENST00000513675,;RP11-58B2.1,upstream_gene_variant,,ENST00000502494,;SLCO6A1,non_coding_transcript_exon_variant,,ENST00000505407,;SLCO6A1,upstream_gene_variant,,ENST00000514551,;	uc003knn.2	c.111A>G	246/2437	3	3			c.111A>G						5	SNP	c.(109-111)GGA>GGG	8	8			ovary(3)|skin(3)|central_nervous_system(1)	7	Broad	solute carrier organic anion transporter family,			101834438		0.602	ENSG00000205359	14504	g.chr5:101834438T>C		integral to membrane|plasma membrane	transporter activity							332.758408	KEEP	52	69	-1	156	129	52	69	-1	344.393228	156	129	0.30791	1	0	0	0	0	0	0	1	0	--	--		0	C			SLCO6A1_uc003kno.2_Silent_p.G37G|SLCO6A1_uc003knp.2_Silent_p.G37G|SLCO6A1_uc003knq.2_Silent_p.G37G	52	GBM-06-0219-TP	p.G37G	T	ACTTCGGGGTTCCCTTGGCCC	NM_173488	NP_775759	101834438	Q86UG4	SO6A1_HUMAN	0		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	1	283	-	C	C		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	Silent	37			Cytoplasmic (Potential).			
SLCO6A1	133482	broad.mit.edu	GRCh37	5	101813473	101813473	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0221-01	TCGA-06-0221-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000506729.1:c.709A>G	p.Thr237Ala	p.T237A	ENST00000506729		237	Act/Gct	0			1			C	T/A	uc003knn.2	protein_coding		CCDS34206.1			709/2160									ovary(3)|skin(3)|central_nervous_system(1)	7	c.(709-711)ACT>GCT			Gene3D:1.20.1250.20,Pfam_domain:PF03137,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF3,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00805,Transmembrane_helices:TMhelix	solute carrier organic anion transporter family,				ENSP00000369135		14-Mar									COSM2151025	14-Mar	.		ENST00000379807	Transcript				integral to membrane|plasma membrane	transporter activity	ENSG00000205359	g.chr5:101813473T>C	23613			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=SO6A1_HUMAN&rb=105&re=666&var=T237A	NA	getma.org/?cm=var&var=hg19,5,101813473,T,C&fts=all	T237A	--	--	1																																		SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Missense_Mutation_p.T237A|SLCO6A1_uc003knq.2_Intron	1			benign(0.05)	p.T237A	NM_173488	NP_775759		tolerated(0.49)	1	SO6A1_HUMAN	SLCO6A1	HGNC	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	H0Y8R6_HUMAN,D3DSZ4_HUMAN		3	881	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	UPI000020C392	237			Helical; Name=4; (Potential).		SNV	SLCO6A1,missense_variant,p.Thr237Ala,ENST00000506729,;SLCO6A1,missense_variant,p.Thr237Ala,ENST00000379807,NM_173488.3;SLCO6A1,intron_variant,,ENST00000389019,;SLCO6A1,intron_variant,,ENST00000379810,;SLCO6A1,intron_variant,,ENST00000513675,;SLCO6A1,intron_variant,,ENST00000514551,;SLCO6A1,intron_variant,,ENST00000505407,;SLCO6A1,upstream_gene_variant,,ENST00000505739,;	uc003knn.2	c.709A>G	844/2437	3	3			c.709A>G						5	SNP	c.(709-711)ACT>GCT	64	64			ovary(3)|skin(3)|central_nervous_system(1)	7	Broad	solute carrier organic anion transporter family,			101813473		0.393	ENSG00000205359	14504	g.chr5:101813473T>C		integral to membrane|plasma membrane	transporter activity							388.507526	KEEP	60	59	-1	82	75	60	59	-1	389.308334	82	75	0.438525	1	0	0	0	0	1	0	0	0	--	--		0	C			SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Missense_Mutation_p.T237A|SLCO6A1_uc003knq.2_Intron	53	GBM-06-0221-TP	p.T237A	T	CCCTGCACAGTCTGCCCAAGG	NM_173488	NP_775759	101813473	Q86UG4	SO6A1_HUMAN	0		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	3	881	-	C	C		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	Missense_Mutation	237			Helical; Name=4; (Potential).			
SLCO6A1	0	broad.mit.edu	GRCh37	5	101794118	101794138	+	inframe_deletion	In_Frame_Del	DEL	TTCCAAGTTTCAGATCTTTAA	TTCCAAGTTTCAGATCTTTAA	-			TCGA-19-4068-01	TCGA-19-4068-01	TTCCAAGTTTCAGATCTTTAA	TTCCAAGTTTCAGATCTTTAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379807.3:c.1079_1099delTTAAAGATCTGAAACTTGGAA	p.Leu360_Thr367delinsPro	p.L360_T367delinsP	ENST00000379807	NM_173488.3	360	cTTAAAGATCTGAAACTTGGAAct/cct	0			1			-	LKDLKLGT/P	uc003knn.2	protein_coding		CCDS34206.1			1079-1099/2160									ovary(3)|skin(3)|central_nervous_system(1)	7	c.(1078-1101)CTTAAAGATCTGAAACTTGGAACT>CCT			Pfam_domain:PF03137,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF3,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00805	solute carrier organic anion transporter family,				ENSP00000369135		14-Jun										14-Jun	.		ENST00000379807	Transcript				integral to membrane|plasma membrane	transporter activity	ENSG00000205359	g.chr5:101794118_101794138delTTCCAAGTTTCAGATCTTTAA	23613			MODERATE								--	--	1																																		SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_In_Frame_Del_p.360_367LKDLKLGT>P|SLCO6A1_uc003knq.2_In_Frame_Del_p.298_305LKDLKLGT>P					p.360_367LKDLKLGT>P	NM_173488	NP_775759				SO6A1_HUMAN	SLCO6A1	HGNC	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	H0Y8R6_HUMAN,D3DSZ4_HUMAN		6	1251_1271	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	UPI000020C392	360_367			Cytoplasmic (Potential).		deletion	SLCO6A1,inframe_deletion,p.Leu360_Thr367delinsPro,ENST00000506729,;SLCO6A1,inframe_deletion,p.Leu360_Thr367delinsPro,ENST00000379807,NM_173488.3;SLCO6A1,inframe_deletion,p.Leu298_Thr305delinsPro,ENST00000389019,;SLCO6A1,intron_variant,,ENST00000379810,;SLCO6A1,intron_variant,,ENST00000513675,;SLCO6A1,non_coding_transcript_exon_variant,,ENST00000514551,;SLCO6A1,non_coding_transcript_exon_variant,,ENST00000505739,;	uc003knn.2	c.1079_1099delTTAAAGATCTGAAACTTGGAA	1214-1234/2437	5	5			c.1079_1099delTTAAAGATCTGAAACTTGGAA						5	DEL	c.(1078-1101)CTTAAAGATCTGAAACTTGGAACT>CCT	60	60			ovary(3)|skin(3)|central_nervous_system(1)	7	Broad	solute carrier organic anion transporter family,			101794138		0.285	ENSG00000205359	14504	g.chr5:101794118_101794138delTTCCAAGTTTCAGATCTTTAA		integral to membrane|plasma membrane	transporter activity																				0.19	1	1	0	1	0	0	0	0	0	--	--		0	-			SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_In_Frame_Del_p.360_367LKDLKLGT>P|SLCO6A1_uc003knq.2_In_Frame_Del_p.298_305LKDLKLGT>P	168	GBM-19-4068-TP	p.360_367LKDLKLGT>P	TTCCAAGTTTCAGATCTTTAA	TTGATATTAGTTCCAAGTTTCAGATCTTTAAGTCTGCTGTC	NM_173488	NP_775759	101794118	Q86UG4	SO6A1_HUMAN	0		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	6	1251_1271	-	-	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	In_Frame_Del	360_367			Cytoplasmic (Potential).			
SLCO6A1	0	broad.mit.edu	GRCh37	5	101709074	101709074	+	synonymous_variant	Silent	SNP	T	T	C	rs146381310	byFrequency	TCGA-19-5955-01	TCGA-19-5955-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379807.3:c.2142A>G	p.Lys714=	p.K714=	ENST00000379807	NM_173488.3	714	aaA/aaG	0	C:0.0014	C:0	1	C:0		C	K	uc003knn.2	protein_coding		CCDS34206.1			2142/2160									ovary(3)|skin(3)|central_nervous_system(1)	7	c.(2140-2142)AAA>AAG			hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF3	solute carrier organic anion transporter family,		C:0	C:0.0013	ENSP00000369135	C:0.002	13/14	0.00101	0.000389	8.75E-05		0.000455	0.00168		0.000121	rs146381310,COSM3409645	13/14	common_variant		ENST00000379807	Transcript		C:0.0004		integral to membrane|plasma membrane	transporter activity	ENSG00000205359	g.chr5:101709074T>C	23613			LOW								--	--	1																																		SLCO6A1_uc003kno.2_Silent_p.K461K|SLCO6A1_uc003knp.2_Silent_p.K714K|SLCO6A1_uc003knq.2_Silent_p.K652K	0,1				p.K714K	NM_173488	NP_775759	C:0		0,1	SO6A1_HUMAN	SLCO6A1	HGNC	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	H0Y8R6_HUMAN,D3DSZ4_HUMAN		13	2314	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	UPI000020C392	714			Cytoplasmic (Potential).		SNV	SLCO6A1,synonymous_variant,p.=,ENST00000506729,;SLCO6A1,synonymous_variant,p.=,ENST00000379807,NM_173488.3;SLCO6A1,synonymous_variant,p.=,ENST00000389019,;SLCO6A1,synonymous_variant,p.=,ENST00000379810,;SLCO6A1,synonymous_variant,p.=,ENST00000513675,;SLCO6A1,synonymous_variant,p.=,ENST00000511588,;SLCO6A1,non_coding_transcript_exon_variant,,ENST00000514765,;	uc003knn.2	c.2142A>G	2277/2437	3	3			c.2142A>G						5	SNP	c.(2140-2142)AAA>AAG	54	54			ovary(3)|skin(3)|central_nervous_system(1)	7	Broad	solute carrier organic anion transporter family,			101709074		0.269	ENSG00000205359	14504	g.chr5:101709074T>C		integral to membrane|plasma membrane	transporter activity							36.172113	KEEP	8	12	-1	51	66	8	12	-1	49.920925	51	66	0.147826	1	0	0	0	0	0	0	1	0	--	--		0	C			SLCO6A1_uc003kno.2_Silent_p.K461K|SLCO6A1_uc003knp.2_Silent_p.K714K|SLCO6A1_uc003knq.2_Silent_p.K652K	175	GBM-19-5955-TP	p.K714K	T	CAGTTTCTTCTTTTTTCTTAA	NM_173488	NP_775759	101709074	Q86UG4	SO6A1_HUMAN	0		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	13	2314	-	C	C		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	Silent	714			Cytoplasmic (Potential).			
SLCO6A1	0	broad.mit.edu	GRCh37	5	101816115	101816115	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs111320089	byFrequency;by1000genomes	TCGA-27-2528-01	TCGA-27-2528-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379807.3:c.382G>A	p.Val128Ile	p.V128I	ENST00000379807	NM_173488.3	128	Gtc/Atc	0	T:0.0077	T:0.0091	1	T:0		T	V/I	uc003knn.2	protein_coding		CCDS34206.1			382/2160									ovary(3)|skin(3)|central_nervous_system(1)	7	c.(382-384)GTC>ATC			Gene3D:1.20.1250.20,Pfam_domain:PF03137,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF3,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00805,Transmembrane_helices:TMhelix	solute carrier organic anion transporter family,		T:0	T:0.0001	ENSP00000369135	T:0	14-Feb	0.000618	0.00726				1.50E-05		6.07E-05	rs111320089,COSM3409647	14-Feb	common_variant		ENST00000379807	Transcript		T:0.0024		integral to membrane|plasma membrane	transporter activity	ENSG00000205359	g.chr5:101816115C>T	23613			MODERATE		1.07	low	getma.org/?cm=msa&ty=f&p=SO6A1_HUMAN&rb=105&re=666&var=V128I	NA	getma.org/?cm=var&var=hg19,5,101816115,C,T&fts=all	V128I	--	--	1																																		SLCO6A1_uc003kno.2_Missense_Mutation_p.V128I|SLCO6A1_uc003knp.2_Missense_Mutation_p.V128I|SLCO6A1_uc003knq.2_Missense_Mutation_p.V128I	0,1			benign(0.372)	p.V128I	NM_173488	NP_775759	T:0	deleterious(0.03)	0,1	SO6A1_HUMAN	SLCO6A1	HGNC	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	H0Y8R6_HUMAN,D3DSZ4_HUMAN		2	554	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	UPI000020C392	128			Extracellular (Potential).		SNV	SLCO6A1,missense_variant,p.Val128Ile,ENST00000506729,;SLCO6A1,missense_variant,p.Val128Ile,ENST00000379807,NM_173488.3;SLCO6A1,missense_variant,p.Val128Ile,ENST00000389019,;SLCO6A1,missense_variant,p.Val128Ile,ENST00000379810,;SLCO6A1,missense_variant,p.Val128Ile,ENST00000513675,;SLCO6A1,non_coding_transcript_exon_variant,,ENST00000514551,;SLCO6A1,non_coding_transcript_exon_variant,,ENST00000505407,;SLCO6A1,upstream_gene_variant,,ENST00000505739,;	uc003knn.2	c.382G>A	517/2437	1	1			c.382G>A						5	SNP	c.(382-384)GTC>ATC	2	2			ovary(3)|skin(3)|central_nervous_system(1)	7	Broad	solute carrier organic anion transporter family,			101816115		0.328	ENSG00000205359	14504	g.chr5:101816115C>T		integral to membrane|plasma membrane	transporter activity							144.778097	KEEP	29	25	-1	30	72	29	25	-1	146.842888	30	72	0.371429	1	0	0	0	0	1	0	0	0	--	--		0	T			SLCO6A1_uc003kno.2_Missense_Mutation_p.V128I|SLCO6A1_uc003knp.2_Missense_Mutation_p.V128I|SLCO6A1_uc003knq.2_Missense_Mutation_p.V128I	205	GBM-27-2528-TP	p.V128I	C	CCAATGCTGACATCTATAAGA	NM_173488	NP_775759	101816115	Q86UG4	SO6A1_HUMAN	0		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	2	554	-	T	T		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	Missense_Mutation	128			Extracellular (Potential).			
SLCO6A1	0	broad.mit.edu	GRCh37	5	101834365	101834365	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs144293843		TCGA-28-5213-01	TCGA-28-5213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379807.3:c.184G>A	p.Gly62Ser	p.G62S	ENST00000379807	NM_173488.3	62	Ggc/Agc	0	G:0		1			T	G/S	uc003knn.2	protein_coding		CCDS34206.1			184/2160									ovary(3)|skin(3)|central_nervous_system(1)	7	c.(184-186)GGC>AGC			hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF3,Low_complexity_(Seg):seg	solute carrier organic anion transporter family,			G:0.0002	ENSP00000369135		14-Jan									rs144293843,COSM3409648	14-Jan	.		ENST00000379807	Transcript				integral to membrane|plasma membrane	transporter activity	ENSG00000205359	g.chr5:101834365C>T	23613			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=SO6A1_HUMAN&rb=1&re=104&var=G62S	NA	getma.org/?cm=var&var=hg19,5,101834365,C,T&fts=all	G62S	--	--	1																																		SLCO6A1_uc003kno.2_Missense_Mutation_p.G62S|SLCO6A1_uc003knp.2_Missense_Mutation_p.G62S|SLCO6A1_uc003knq.2_Missense_Mutation_p.G62S	0,1			benign(0.149)	p.G62S	NM_173488	NP_775759		tolerated(0.7)	0,1	SO6A1_HUMAN	SLCO6A1	HGNC	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	H0Y8R6_HUMAN,D3DSZ4_HUMAN		1	356	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	UPI000020C392	62			Cytoplasmic (Potential).		SNV	SLCO6A1,missense_variant,p.Gly62Ser,ENST00000506729,;SLCO6A1,missense_variant,p.Gly62Ser,ENST00000379807,NM_173488.3;SLCO6A1,missense_variant,p.Gly62Ser,ENST00000389019,;SLCO6A1,missense_variant,p.Gly62Ser,ENST00000379810,;SLCO6A1,missense_variant,p.Gly62Ser,ENST00000513675,;RP11-58B2.1,upstream_gene_variant,,ENST00000502494,;SLCO6A1,non_coding_transcript_exon_variant,,ENST00000505407,;SLCO6A1,upstream_gene_variant,,ENST00000514551,;	uc003knn.2	c.184G>A	319/2437	2	2			c.184G>A						5	SNP	c.(184-186)GGC>AGC	21	21			ovary(3)|skin(3)|central_nervous_system(1)	7	Broad	solute carrier organic anion transporter family,			101834365		0.537	ENSG00000205359	14504	g.chr5:101834365C>T		integral to membrane|plasma membrane	transporter activity							270.757656	KEEP	62	63	-1	286	251	62	63	-1	322.997751	286	251	0.191126	1	0	0	0	0	1	0	0	0	--	--		0	T			SLCO6A1_uc003kno.2_Missense_Mutation_p.G62S|SLCO6A1_uc003knp.2_Missense_Mutation_p.G62S|SLCO6A1_uc003knq.2_Missense_Mutation_p.G62S	220	GBM-28-5213-TP	p.G62S	C	CGGAAACCGCCGAACCTTATC	NM_173488	NP_775759	101834365	Q86UG4	SO6A1_HUMAN	0		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	1	356	-	T	T		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	Missense_Mutation	62			Cytoplasmic (Potential).			
SLCO6A1	0	broad.mit.edu	GRCh37	5	101815988	101815988	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-76-4925-01	TCGA-76-4925-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379807.3:c.509A>T	p.Lys170Ile	p.K170I	ENST00000379807	NM_173488.3	170	aAa/aTa	0			1			A	K/I	uc003knn.2	protein_coding		CCDS34206.1			509/2160									ovary(3)|skin(3)|central_nervous_system(1)	7	c.(508-510)AAA>ATA			Gene3D:1.20.1250.20,Pfam_domain:PF03137,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF3,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00805	solute carrier organic anion transporter family,				ENSP00000369135		14-Feb									COSM2157479	14-Feb	.		ENST00000379807	Transcript				integral to membrane|plasma membrane	transporter activity	ENSG00000205359	g.chr5:101815988T>A	23613			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=SO6A1_HUMAN&rb=105&re=666&var=K170I	NA	getma.org/?cm=var&var=hg19,5,101815988,T,A&fts=all	K170I	--	--	1																																		SLCO6A1_uc003kno.2_Missense_Mutation_p.K170I|SLCO6A1_uc003knp.2_Missense_Mutation_p.K170I|SLCO6A1_uc003knq.2_Missense_Mutation_p.K170I	1			benign(0.013)	p.K170I	NM_173488	NP_775759		deleterious(0.01)	1	SO6A1_HUMAN	SLCO6A1	HGNC	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	H0Y8R6_HUMAN,D3DSZ4_HUMAN		2	681	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	UPI000020C392	170			Cytoplasmic (Potential).		SNV	SLCO6A1,missense_variant,p.Lys170Ile,ENST00000506729,;SLCO6A1,missense_variant,p.Lys170Ile,ENST00000379807,NM_173488.3;SLCO6A1,missense_variant,p.Lys170Ile,ENST00000389019,;SLCO6A1,missense_variant,p.Lys170Ile,ENST00000379810,;SLCO6A1,missense_variant,p.Lys170Ile,ENST00000513675,;SLCO6A1,non_coding_transcript_exon_variant,,ENST00000505407,;SLCO6A1,intron_variant,,ENST00000514551,;SLCO6A1,upstream_gene_variant,,ENST00000505739,;	uc003knn.2	c.509A>T	644/2437	2	2			c.509A>T						5	SNP	c.(508-510)AAA>ATA	32	32			ovary(3)|skin(3)|central_nervous_system(1)	7	Broad	solute carrier organic anion transporter family,			101815988		0.333	ENSG00000205359	14504	g.chr5:101815988T>A		integral to membrane|plasma membrane	transporter activity							216.482283	KEEP	36	51	-1	41	60	36	51	-1	217.192162	41	60	0.431818	1	0	0	0	0	1	0	0	0	--	--		0	A			SLCO6A1_uc003kno.2_Missense_Mutation_p.K170I|SLCO6A1_uc003knp.2_Missense_Mutation_p.K170I|SLCO6A1_uc003knq.2_Missense_Mutation_p.K170I	265	GBM-76-4925-TP	p.K170I	T	CCATATTACTTTTTTTCTGTC	NM_173488	NP_775759	101815988	Q86UG4	SO6A1_HUMAN	0		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	2	681	-	A	A		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	Missense_Mutation	170			Cytoplasmic (Potential).			
SLFN11	0	broad.mit.edu	GRCh37	17	33680901	33680901	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-1986-01	TCGA-32-1986-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308377.4:c.1376G>C	p.Cys459Ser	p.C459S	ENST00000308377	NM_152270.3	459	tGt/tCt	0			1			G	C/S	uc010ctp.2	protein_coding		CCDS11294.1			1376/2706									large_intestine(1)|ovary(1)|skin(1)	3	c.(1375-1377)TGT>TCT			hmmpanther:PTHR12155,hmmpanther:PTHR12155:SF20	schlafen family member 11				ENSP00000312402		5-Apr									COSM3402779	5-Apr	.		ENST00000308377	Transcript				nucleus	ATP binding	ENSG00000172716	g.chr17:33680901C>G	26633			MODERATE		2.9	medium	getma.org/?cm=msa&ty=f&p=SLN11_HUMAN&rb=340&re=539&var=C459S	NA	getma.org/?cm=var&var=hg19,17,33680901,C,G&fts=all	C459S	--	--	1																																		SLFN11_uc010ctq.2_Missense_Mutation_p.C459S|SLFN11_uc002hjh.3_Missense_Mutation_p.C459S|SLFN11_uc002hjg.3_Missense_Mutation_p.C459S|SLFN11_uc010ctr.2_Missense_Mutation_p.C459S	1			probably_damaging(0.999)	p.C459S	NM_001104588	NP_001098058		deleterious(0)	1	SLN11_HUMAN	SLFN11	HGNC	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	K7ES87_HUMAN,K7ER38_HUMAN,K7EKT7_HUMAN,K7EIM3_HUMAN,C9JUT2_HUMAN,C9JDG6_HUMAN,C9J902_HUMAN		6	1818	-		Ovarian(249;0.17)	UPI0000140B0E	459					SNV	SLFN11,missense_variant,p.Cys459Ser,ENST00000394566,NM_001104587.1,NM_001104590.1,NM_001104588.1,NM_001104589.1;SLFN11,missense_variant,p.Cys459Ser,ENST00000308377,NM_152270.3;SLFN11,upstream_gene_variant,,ENST00000592108,;	uc010ctp.2	c.1376G>C	1529/4910	3	3			c.1376G>C						17	SNP	c.(1375-1377)TGT>TCT	2	2			large_intestine(1)|ovary(1)|skin(1)	3	Broad	schlafen family member 11			33680901		0.488	ENSG00000172716	14505	g.chr17:33680901C>G		nucleus	ATP binding							71.329744	KEEP	10	17	-1	32	40	10	17	-1	75.458588	32	40	0.26506	1	0	0	0	0	1	0	0	0	--	--		0	G			SLFN11_uc010ctq.2_Missense_Mutation_p.C459S|SLFN11_uc002hjh.3_Missense_Mutation_p.C459S|SLFN11_uc002hjg.3_Missense_Mutation_p.C459S|SLFN11_uc010ctr.2_Missense_Mutation_p.C459S	233	GBM-32-1986-TP	p.C459S	C	CAGAGCATCACAGATGACTCC	NM_001104588	NP_001098058	33680901	Q7Z7L1	SLN11_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	1818	-	G	G		Ovarian(249;0.17)	Missense_Mutation	459						
SLFN12	55106	broad.mit.edu	GRCh37	17	33749828	33749828	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0882-01	TCGA-06-0882-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394562.1:c.220G>A	p.Gly74Arg	p.G74R	ENST00000394562		74	Gga/Aga	0			1			T	G/R	uc002hji.3	protein_coding		CCDS11295.1			220/1737									skin(1)	1	c.(220-222)GGA>AGA			hmmpanther:PTHR12155,hmmpanther:PTHR12155:SF2	schlafen family member 12				ENSP00000302077		4-Feb									COSM3181614	4-Feb	.		ENST00000304905	Transcript					ATP binding	ENSG00000172123	g.chr17:33749828C>T	25500			MODERATE		2.16	medium	getma.org/?cm=msa&ty=f&p=SLN12_HUMAN&rb=1&re=199&var=G74R	NA	getma.org/?cm=var&var=hg19,17,33749828,C,T&fts=all	G74R	--	--	1																																		SLFN12_uc002hjj.3_Missense_Mutation_p.G74R|SLFN12_uc010cts.2_Missense_Mutation_p.G74R	1			probably_damaging(0.999)	p.G74R	NM_018042	NP_060512		deleterious(0)	1	SLN12_HUMAN	SLFN12	HGNC	Q8IYM2	SLN12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	C9JIA1_HUMAN,C9J4K7_HUMAN		2	597	-		Ovarian(249;0.17)	UPI000013E9E5	74					SNV	SLFN12,missense_variant,p.Gly74Arg,ENST00000394562,;SLFN12,missense_variant,p.Gly74Arg,ENST00000452764,;SLFN12,missense_variant,p.Gly74Arg,ENST00000304905,NM_018042.3;SLFN12,missense_variant,p.Gly74Arg,ENST00000447040,;SLFN12,downstream_gene_variant,,ENST00000445092,;SLFN12,upstream_gene_variant,,ENST00000460530,;SLFN12,upstream_gene_variant,,ENST00000479326,;	uc002hji.3	c.220G>A	597/2383	1	1			c.220G>A						17	SNP	c.(220-222)GGA>AGA	1	1			skin(1)	1	Broad	schlafen family member 12			33749828		0.363	ENSG00000172123	14506	g.chr17:33749828C>T			ATP binding							2.316409	KEEP	3	11	-1	82	61	3	11	-1	29.263278	82	61	0.084416	1	0	0	0	0	1	0	0	0	--	--		0	T			SLFN12_uc002hjj.3_Missense_Mutation_p.G74R|SLFN12_uc010cts.2_Missense_Mutation_p.G74R	77	GBM-06-0882-TP	p.G74R	C	AGTCCTATTCCATCTTTTGTA	NM_018042	NP_060512	33749828	Q8IYM2	SLN12_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	597	-	T	T		Ovarian(249;0.17)	Missense_Mutation	74						
SLFN12	55106	broad.mit.edu	GRCh37	17	33749831	33749831	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0882-01	TCGA-06-0882-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394562.1:c.217G>A	p.Asp73Asn	p.D73N	ENST00000394562		73	Gat/Aat	0		T:0	1	T:0		T	D/N	uc002hji.3	protein_coding		CCDS11295.1			217/1737									skin(1)	1	c.(217-219)GAT>AAT			hmmpanther:PTHR12155,hmmpanther:PTHR12155:SF2	schlafen family member 12		T:0.001		ENSP00000302077	T:0	4-Feb	1.65E-05			0.000231					rs199661197,COSM3402780	4-Feb	.		ENST00000304905	Transcript		T:0.0002			ATP binding	ENSG00000172123	g.chr17:33749831C>T	25500			MODERATE		2.25	medium	getma.org/?cm=msa&ty=f&p=SLN12_HUMAN&rb=1&re=199&var=D73N	NA	getma.org/?cm=var&var=hg19,17,33749831,C,T&fts=all	D73N	--	--	1																																		SLFN12_uc002hjj.3_Missense_Mutation_p.D73N|SLFN12_uc010cts.2_Missense_Mutation_p.D73N	0,1			probably_damaging(0.996)	p.D73N	NM_018042	NP_060512	T:0	tolerated(0.18)	0,1	SLN12_HUMAN	SLFN12	HGNC	Q8IYM2	SLN12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	C9JIA1_HUMAN,C9J4K7_HUMAN		2	594	-		Ovarian(249;0.17)	UPI000013E9E5	73					SNV	SLFN12,missense_variant,p.Asp73Asn,ENST00000394562,;SLFN12,missense_variant,p.Asp73Asn,ENST00000452764,;SLFN12,missense_variant,p.Asp73Asn,ENST00000304905,NM_018042.3;SLFN12,missense_variant,p.Asp73Asn,ENST00000447040,;SLFN12,downstream_gene_variant,,ENST00000445092,;SLFN12,upstream_gene_variant,,ENST00000460530,;SLFN12,upstream_gene_variant,,ENST00000479326,;	uc002hji.3	c.217G>A	594/2383	1	1			c.217G>A						17	SNP	c.(217-219)GAT>AAT	8	8			skin(1)	1	Broad	schlafen family member 12			33749831		0.368	ENSG00000172123	14506	g.chr17:33749831C>T			ATP binding							9.001694	KEEP	4	12	-1	82	62	4	12	-1	34.776644	82	62	0.095541	1	0	0	0	0	1	0	0	0	--	--		0	T			SLFN12_uc002hjj.3_Missense_Mutation_p.D73N|SLFN12_uc010cts.2_Missense_Mutation_p.D73N	77	GBM-06-0882-TP	p.D73N	C	CCTATTCCATCTTTTGTATAA	NM_018042	NP_060512	33749831	Q8IYM2	SLN12_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	594	-	T	T		Ovarian(249;0.17)	Missense_Mutation	73						
SLFN13	146857	broad.mit.edu	GRCh37	17	33768202	33768202	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0173-01	TCGA-06-0173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285013.6:c.2106G>A	p.Leu702=	p.L702=	ENST00000285013	NM_144682.5	702	ctG/ctA	0			1			T	L	uc002hjk.1	protein_coding	YES	CCDS32620.1			2106/2694									ovary(1)|breast(1)	2	c.(2104-2106)CTG>CTA			hmmpanther:PTHR12155:SF21,hmmpanther:PTHR12155,Pfam_domain:PF09848,Superfamily_domains:SSF52540	schlafen family member 13				ENSP00000285013		6-Jun									COSM2150386	6-Jun	.		ENST00000285013	Transcript				intracellular	ATP binding	ENSG00000154760	g.chr17:33768202C>T	26481			LOW								--	--	1																																		SLFN13_uc010wch.1_Silent_p.L702L|SLFN13_uc002hjl.2_Silent_p.L702L|SLFN13_uc010ctt.2_Silent_p.L384L|SLFN13_uc002hjm.2_Silent_p.L371L	1	1			p.L702L	NM_144682	NP_653283			1	SLN13_HUMAN	SLFN13	HGNC	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	K7EPV8_HUMAN,E9PM29_HUMAN,E9PKT7_HUMAN,B3KV92_HUMAN		4	2436	-			UPI000004E65A	702					SNV	SLFN13,synonymous_variant,p.=,ENST00000285013,NM_144682.5;SLFN13,synonymous_variant,p.=,ENST00000360502,;SLFN13,synonymous_variant,p.=,ENST00000526861,;SLFN13,synonymous_variant,p.=,ENST00000542635,;SLFN13,synonymous_variant,p.=,ENST00000533791,;SLFN13,synonymous_variant,p.=,ENST00000534689,;SLFN13,downstream_gene_variant,,ENST00000532210,;SLFN13,downstream_gene_variant,,ENST00000524511,;SLFN13,downstream_gene_variant,,ENST00000531588,;SLFN13,3_prime_UTR_variant,,ENST00000530782,;SLFN13,downstream_gene_variant,,ENST00000532774,;	uc002hjk.1	c.2106G>A	2382/8469	2	2			c.2106G>A						17	SNP	c.(2104-2106)CTG>CTA	22	22			ovary(1)|breast(1)	2	Broad	schlafen family member 13			33768202		0.483	ENSG00000154760	14507	g.chr17:33768202C>T		intracellular	ATP binding							579.513588	KEEP	84	104	-1	47	55	84	104	-1	584.921885	47	55	0.649635	1	0	0	0	0	0	0	1	0	--	--		0	T			SLFN13_uc010wch.1_Silent_p.L702L|SLFN13_uc002hjl.2_Silent_p.L702L|SLFN13_uc010ctt.2_Silent_p.L384L|SLFN13_uc002hjm.2_Silent_p.L371L	36	GBM-06-0173-TP	p.L702L	C	GAAAGTAGTCCAGAAAGATCC	NM_144682	NP_653283	33768202	Q68D06	SLN13_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	4	2436	-	T	T			Silent	702						
SLFN13	0	broad.mit.edu	GRCh37	17	33767745	33767745	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285013.6:c.2563C>T	p.Arg855Trp	p.R855W	ENST00000285013	NM_144682.5	855	Cgg/Tgg	0	A:0.0002		1			A	R/W	uc002hjk.1	protein_coding	YES	CCDS32620.1			2563/2694									ovary(1)|breast(1)	2	c.(2563-2565)CGG>TGG			hmmpanther:PTHR12155:SF21,hmmpanther:PTHR12155,Superfamily_domains:SSF52540	schlafen family member 13			A:0	ENSP00000285013		6-Jun	4.94E-05	0.000192				5.99E-05			rs371744448,COSM3402781	6-Jun	.		ENST00000285013	Transcript				intracellular	ATP binding	ENSG00000154760	g.chr17:33767745G>A	26481			MODERATE		2.485	medium	getma.org/?cm=msa&ty=f&p=SLN13_HUMAN&rb=750&re=897&var=R855W	NA	getma.org/?cm=var&var=hg19,17,33767745,G,A&fts=all	R855W	--	--	1																																		SLFN13_uc010wch.1_Missense_Mutation_p.R855W|SLFN13_uc002hjl.2_Missense_Mutation_p.R855W|SLFN13_uc010ctt.2_Missense_Mutation_p.R537W|SLFN13_uc002hjm.2_Missense_Mutation_p.R524W	0,1	1		benign(0.28)	p.R855W	NM_144682	NP_653283		deleterious(0.05)	0,1	SLN13_HUMAN	SLFN13	HGNC	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	K7EPV8_HUMAN,E9PM29_HUMAN,E9PKT7_HUMAN,B3KV92_HUMAN		4	2893	-			UPI000004E65A	855					SNV	SLFN13,missense_variant,p.Arg855Trp,ENST00000285013,NM_144682.5;SLFN13,missense_variant,p.Arg537Trp,ENST00000360502,;SLFN13,missense_variant,p.Arg855Trp,ENST00000526861,;SLFN13,missense_variant,p.Arg855Trp,ENST00000542635,;SLFN13,missense_variant,p.Arg855Trp,ENST00000533791,;SLFN13,missense_variant,p.Arg537Trp,ENST00000534689,;SLFN13,downstream_gene_variant,,ENST00000532210,;SLFN13,downstream_gene_variant,,ENST00000524511,;SLFN13,downstream_gene_variant,,ENST00000531588,;SLFN13,3_prime_UTR_variant,,ENST00000530782,;SLFN13,downstream_gene_variant,,ENST00000532774,;	uc002hjk.1	c.2563C>T	2839/8469	2	2			c.2563C>T						17	SNP	c.(2563-2565)CGG>TGG	30	30			ovary(1)|breast(1)	2	Broad	schlafen family member 13			33767745		0.483	ENSG00000154760	14507	g.chr17:33767745G>A		intracellular	ATP binding							149.842568	KEEP	18	38	-1	34	63	18	38	-1	152.45464	34	63	0.35461	1	0	0	0	0	1	0	0	0	--	--		0	A			SLFN13_uc010wch.1_Missense_Mutation_p.R855W|SLFN13_uc002hjl.2_Missense_Mutation_p.R855W|SLFN13_uc010ctt.2_Missense_Mutation_p.R537W|SLFN13_uc002hjm.2_Missense_Mutation_p.R524W	230	GBM-32-1979-TP	p.R855W	G	GAGAATCGCCGGACACTGTCC	NM_144682	NP_653283	33767745	Q68D06	SLN13_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	4	2893	-	A	A			Missense_Mutation	855						
SLFN13	0	broad.mit.edu	GRCh37	17	33769128	33769128	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-1986-01	TCGA-32-1986-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285013.6:c.1376G>C	p.Cys459Ser	p.C459S	ENST00000285013	NM_144682.5	459	tGt/tCt	0			1			G	C/S	uc002hjk.1	protein_coding	YES	CCDS32620.1			1376/2694									ovary(1)|breast(1)	2	c.(1375-1377)TGT>TCT			hmmpanther:PTHR12155:SF21,hmmpanther:PTHR12155	schlafen family member 13				ENSP00000285013		6-May									COSM3402782	6-May	.		ENST00000285013	Transcript				intracellular	ATP binding	ENSG00000154760	g.chr17:33769128C>G	26481			MODERATE		2.775	medium	getma.org/?cm=msa&ty=f&p=SLN13_HUMAN&rb=342&re=541&var=C459S	NA	getma.org/?cm=var&var=hg19,17,33769128,C,G&fts=all	C459S	--	--	1																																		SLFN13_uc010wch.1_Missense_Mutation_p.C459S|SLFN13_uc002hjl.2_Missense_Mutation_p.C459S|SLFN13_uc010ctt.2_Missense_Mutation_p.C141S|SLFN13_uc002hjm.2_Missense_Mutation_p.C128S	1	1		probably_damaging(0.999)	p.C459S	NM_144682	NP_653283		deleterious(0)	1	SLN13_HUMAN	SLFN13	HGNC	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	K7EPV8_HUMAN,E9PM29_HUMAN,E9PKT7_HUMAN,B3KV92_HUMAN		3	1706	-			UPI000004E65A	459					SNV	SLFN13,missense_variant,p.Cys459Ser,ENST00000285013,NM_144682.5;SLFN13,missense_variant,p.Cys141Ser,ENST00000360502,;SLFN13,missense_variant,p.Cys459Ser,ENST00000526861,;SLFN13,missense_variant,p.Cys459Ser,ENST00000542635,;SLFN13,missense_variant,p.Cys459Ser,ENST00000533791,;SLFN13,missense_variant,p.Cys141Ser,ENST00000534689,;SLFN13,missense_variant,p.Cys128Ser,ENST00000532210,;SLFN13,downstream_gene_variant,,ENST00000524511,;SLFN13,downstream_gene_variant,,ENST00000531588,;SLFN13,3_prime_UTR_variant,,ENST00000530782,;SLFN13,non_coding_transcript_exon_variant,,ENST00000532774,;SLFN13,downstream_gene_variant,,ENST00000526483,;	uc002hjk.1	c.1376G>C	1652/8469	3	3			c.1376G>C						17	SNP	c.(1375-1377)TGT>TCT	62	62			ovary(1)|breast(1)	2	Broad	schlafen family member 13			33769128		0.527	ENSG00000154760	14507	g.chr17:33769128C>G		intracellular	ATP binding							-0.923224	KEEP	2	8	-1	56	41	2	8	-1	15.514157	56	41	0.069767	1	0	0	0	0	1	0	0	0	--	--		0	G			SLFN13_uc010wch.1_Missense_Mutation_p.C459S|SLFN13_uc002hjl.2_Missense_Mutation_p.C459S|SLFN13_uc010ctt.2_Missense_Mutation_p.C141S|SLFN13_uc002hjm.2_Missense_Mutation_p.C128S	233	GBM-32-1986-TP	p.C459S	C	CAGAGCATCACAGATGACTCC	NM_144682	NP_653283	33769128	Q68D06	SLN13_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	3	1706	-	G	G			Missense_Mutation	459						
SLFN5	162394	broad.mit.edu	GRCh37	17	33591324	33591324	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0195-01	TCGA-06-0195-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299977.4:c.1261T>C	p.Phe421Leu	p.F421L	ENST00000299977	NM_144975.3	421	Ttt/Ctt	0			1			C	F/L	uc002hjf.3	protein_coding	YES	CCDS32619.1			1261/2676									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(1261-1263)TTT>CTT			hmmpanther:PTHR12155,hmmpanther:PTHR12155:SF26	schlafen family member 5				ENSP00000299977		5-Apr									COSM3402778	5-Apr	.		ENST00000299977	Transcript			cell differentiation		ATP binding	ENSG00000166750	g.chr17:33591324T>C	28286			MODERATE		1.44	low	getma.org/?cm=msa&ty=f&p=SLFN5_HUMAN&rb=323&re=522&var=F421L	NA	getma.org/?cm=var&var=hg19,17,33591324,T,C&fts=all	F421L	--	--	1																																		SLFN5_uc010wcg.1_Intron	1	1		possibly_damaging(0.746)	p.F421L	NM_144975	NP_659412		tolerated(0.81)	1	SLFN5_HUMAN	SLFN5	HGNC	Q08AF3	SLFN5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)			4	1378	+		Ovarian(249;0.17)	UPI0000237686	421					SNV	SLFN5,missense_variant,p.Phe421Leu,ENST00000299977,NM_144975.3;SLFN5,intron_variant,,ENST00000542451,;SLFN5,downstream_gene_variant,,ENST00000592325,;	uc002hjf.3	c.1261T>C	1409/10591	3	3			c.1261T>C						17	SNP	c.(1261-1263)TTT>CTT	62	62			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	schlafen family member 5			33591324		0.418	ENSG00000166750	14508	g.chr17:33591324T>C	cell differentiation		ATP binding							296.34523	KEEP	53	40	-1	66	67	53	40	-1	297.920889	66	67	0.405	1	0	0	0	0	1	0	0	0	--	--		0	C			SLFN5_uc010wcg.1_Intron	45	GBM-06-0195-TP	p.F421L	T	AATATTGATTTTTTCTCAAAG	NM_144975	NP_659412	33591324	Q08AF3	SLFN5_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)	4	1378	+	C	C		Ovarian(249;0.17)	Missense_Mutation	421						
SLIT1	6585	broad.mit.edu	GRCh37	10	98808848	98808848	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2562-01	TCGA-06-2562-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266058.4:c.1329C>T	p.Cys443=	p.C443=	ENST00000266058	NM_003061.2	443	tgC/tgT	0			1			A	C	uc001kmw.2	protein_coding	YES	CCDS7453.1			1329/4605									ovary(4)	4	c.(1327-1329)TGC>TGT			hmmpanther:PTHR24373:SF39,hmmpanther:PTHR24373,Gene3D:3.80.10.10,SMART_domains:SM00082,Superfamily_domains:SSF52058	slit homolog 1 precursor				ENSP00000266058		14/37	2.47E-05		0.000173			1.50E-05			rs745617207,COSM2152769	14/37	.		ENST00000266058	Transcript			axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	ENSG00000187122	g.chr10:98808848G>A	11085			LOW								--	--	1																																		SLIT1_uc009xvh.1_Silent_p.C453C	0,1	1			p.C443C	NM_003061	NP_003052			0,1	SLIT1_HUMAN	SLIT1	HGNC	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)			14	1581	-		Colorectal(252;0.162)	UPI00001F9491	443			LRRCT 2.		SNV	SLIT1,synonymous_variant,p.=,ENST00000266058,NM_003061.2;SLIT1,synonymous_variant,p.=,ENST00000371070,;SLIT1,synonymous_variant,p.=,ENST00000314867,;ARHGAP19-SLIT1,3_prime_UTR_variant,,ENST00000453547,;	uc001kmw.2	c.1329C>T	1575/7925	2	2			c.1329C>T						10	SNP	c.(1327-1329)TGC>TGT	41	41			ovary(4)	4	Broad	slit homolog 1 precursor			98808848		0.617	ENSG00000187122	14510	g.chr10:98808848G>A	axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding							65.50805	KEEP	13	23	-1	7	15	13	23	-1	66.245343	7	15	0.666667	1	0	0	0	0	0	0	1	0	--	--		0	A			SLIT1_uc009xvh.1_Silent_p.C453C	85	GBM-06-2562-TP	p.C443C	G	GGTTACAGTCGCAAATGAAAG	NM_003061	NP_003052	98808848	O75093	SLIT1_HUMAN	0		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	14	1581	-	A	A		Colorectal(252;0.162)	Silent	443			LRRCT 2.			
SLIT2	0	broad.mit.edu	GRCh37	4	20541195	20541195	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-0786-01	TCGA-14-0786-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504154.1:c.1964C>A	p.Ser655Tyr	p.S655Y	ENST00000504154	NM_004787.1	655	tCt/tAt	0			1			A	S/Y	uc003gpr.1	protein_coding	YES	CCDS3426.1			1964/4590									central_nervous_system(4)|skin(4)|ovary(3)	11	c.(1963-1965)TCT>TAT			PROSITE_profiles:PS51450,hmmpanther:PTHR24373:SF107,hmmpanther:PTHR24373,Pfam_domain:PF13855,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	slit homolog 2 precursor				ENSP00000422591		19/37									COSM3409227	19/37	.		ENST00000504154	Transcript			apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	ENSG00000145147	g.chr4:20541195C>A	11086			MODERATE		2.555	medium	getma.org/?cm=msa&ty=f&p=SLIT2_HUMAN&rb=606&re=666&var=S655Y	getma.org/pdb.php?prot=SLIT2_HUMAN&from=606&to=666&var=S655Y	getma.org/?cm=var&var=hg19,4,20541195,C,A&fts=all	S655Y	--	--	1																																		SLIT2_uc003gps.1_Missense_Mutation_p.S647Y	1	1		probably_damaging(0.989)	p.S655Y	NM_004787	NP_004778		tolerated(0.05)	1	SLIT2_HUMAN	SLIT2	HGNC	O94813	SLIT2_HUMAN			Q4W5N0_HUMAN,Q4W5K2_HUMAN,B3KNE2_HUMAN		19	2168	+			UPI00000747E4	655					SNV	SLIT2,missense_variant,p.Ser655Tyr,ENST00000504154,NM_004787.1;SLIT2,missense_variant,p.Ser647Tyr,ENST00000503823,;SLIT2,missense_variant,p.Ser659Tyr,ENST00000273739,;SLIT2,missense_variant,p.Ser651Tyr,ENST00000503837,;SLIT2,upstream_gene_variant,,ENST00000511508,;SLIT2,upstream_gene_variant,,ENST00000509394,;SLIT2,downstream_gene_variant,,ENST00000509099,;	uc003gpr.1	c.1964C>A	2216/6390	2	2			c.1964C>A						4	SNP	c.(1963-1965)TCT>TAT	21	21			central_nervous_system(4)|skin(4)|ovary(3)	11	Broad	slit homolog 2 precursor			20541195		0.299	ENSG00000145147	14511	g.chr4:20541195C>A	apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding							159.792362	KEEP	24	38	0.612903226	47	45	24	38	0.612903226	160.880357	47	45	0.404412	1	0	0	0	0	1	0	0	0	--	--		0	A			SLIT2_uc003gps.1_Missense_Mutation_p.S647Y	134	GBM-14-0786-TP	p.S655Y	C	ACTCTCCATTCTTTATCTACT	NM_004787	NP_004778	20541195	O94813	SLIT2_HUMAN	0			19	2168	+	A	A			Missense_Mutation	655						
SLIT2	0	broad.mit.edu	GRCh37	4	20544133	20544133	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-14-1829-01	TCGA-14-1829-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504154.1:c.2160T>C	p.Ser720=	p.S720=	ENST00000504154	NM_004787.1	720	agT/agC	0			1			C	S	uc003gpr.1	protein_coding	YES	CCDS3426.1			2160/4590									central_nervous_system(4)|skin(4)|ovary(3)	11	c.(2158-2160)AGT>AGC			hmmpanther:PTHR24373:SF107,hmmpanther:PTHR24373	slit homolog 2 precursor				ENSP00000422591		21/37									COSM3409229	21/37	.		ENST00000504154	Transcript			apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	ENSG00000145147	g.chr4:20544133T>C	11086			LOW								--	--	1																																		SLIT2_uc003gps.1_Silent_p.S712S	1	1			p.S720S	NM_004787	NP_004778			1	SLIT2_HUMAN	SLIT2	HGNC	O94813	SLIT2_HUMAN			Q4W5N0_HUMAN,Q4W5K2_HUMAN,B3KNE2_HUMAN		21	2364	+			UPI00000747E4	720			LRRNT 4.		SNV	SLIT2,synonymous_variant,p.=,ENST00000504154,NM_004787.1;SLIT2,synonymous_variant,p.=,ENST00000503823,;SLIT2,synonymous_variant,p.=,ENST00000273739,;SLIT2,synonymous_variant,p.=,ENST00000503837,;SLIT2,upstream_gene_variant,,ENST00000511508,;SLIT2,non_coding_transcript_exon_variant,,ENST00000509394,;SLIT2,downstream_gene_variant,,ENST00000509099,;	uc003gpr.1	c.2160T>C	2412/6390	4	4			c.2160T>C						4	SNP	c.(2158-2160)AGT>AGC	48	48			central_nervous_system(4)|skin(4)|ovary(3)	11	Broad	slit homolog 2 precursor			20544133		0.413	ENSG00000145147	14511	g.chr4:20544133T>C	apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding							539.90563	KEEP	88	87	-1	167	182	88	87	-1	550.099643	167	182	0.341991	1	0	0	0	0	0	0	1	0	--	--		0	C			SLIT2_uc003gps.1_Silent_p.S712S	149	GBM-14-1829-TP	p.S720S	T	ATGACAATAGTTGCTCCCCAC	NM_004787	NP_004778	20544133	O94813	SLIT2_HUMAN	0			21	2364	+	C	C			Silent	720			LRRNT 4.			
SLIT2	9353		GRCh37	4	20597371	20597371	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000504154.1:c.3234C>T	p.Asp1078=	p.D1078=	ENST00000504154	NM_004787.1	1078	gaC/gaT	0																																																																																																																																																																																																																																												
SLIT3	6586	broad.mit.edu	GRCh37	5	168180912	168180912	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0211-01	TCGA-06-0211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000519560.1:c.1786G>A	p.Val596Met	p.V596M	ENST00000519560	NM_003062.3	596	Gtg/Atg	0		T:0.0015	1	T:0.0014		T	V/M	uc003mab.2	protein_coding	YES	CCDS4369.1			1786/4572									ovary(3)|skin(1)	4	c.(1786-1788)GTG>ATG			PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF15,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058	slit homolog 3 precursor		T:0		ENSP00000430333	T:0	17/36	0.000156	0.000486	0.000174			6.06E-05		0.000489	rs562240210,COSM1065655,COSM3410126	17/36	common_variant		ENST00000519560	Transcript		T:0.0006	apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	ENSG00000184347	g.chr5:168180912C>T	11087			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=SLIT3_HUMAN&rb=581&re=641&var=V596M	getma.org/pdb.php?prot=SLIT3_HUMAN&from=581&to=641&var=V596M	getma.org/?cm=var&var=hg19,5,168180912,C,T&fts=all	V596M	--	--	1																																		SLIT3_uc010jjg.2_Missense_Mutation_p.V596M	0,1,1	1		benign(0.107)	p.V596M	NM_003062	NP_003053	T:0	deleterious(0)	0,1,1	SLIT3_HUMAN	SLIT3	HGNC	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)				17	2206	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	UPI00001B0229	596			LRR 14.		SNV	SLIT3,missense_variant,p.Val596Met,ENST00000519560,NM_003062.3,NM_001271946.1;SLIT3,missense_variant,p.Val596Met,ENST00000332966,;SLIT3,missense_variant,p.Val596Met,ENST00000404867,;SLIT3,non_coding_transcript_exon_variant,,ENST00000519486,;	uc003mab.2	c.1786G>A	2206/9706	1	1			c.1786G>A						5	SNP	c.(1786-1788)GTG>ATG	7	7			ovary(3)|skin(1)	4	Broad	slit homolog 3 precursor			168180912		0.617	ENSG00000184347	14512	g.chr5:168180912C>T	apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	Ovarian(29;311 847 10864 17279 24903)			Ovarian(29;311 847 10864 17279 24903)			83.597317	KEEP	9	22	-1	20	18	9	22	-1	83.722805	20	18	0.451613	1	0	0	0	0	1	0	0	0	--	--		0	T			SLIT3_uc010jjg.2_Missense_Mutation_p.V596M	48	GBM-06-0211-TP	p.V596M	C	CGCCCGTGCACGGTCTCCAGC	NM_003062	NP_003053	168180912	O75094	SLIT3_HUMAN	0	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		17	2206	-	T	T	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Missense_Mutation	596			LRR 14.			
SLIT3	6586	broad.mit.edu	GRCh37	5	168175347	168175347	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01	TCGA-06-0213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000519560.1:c.2230C>T	p.Arg744Cys	p.R744C	ENST00000519560	NM_003062.3	744	Cgc/Tgc	0			1			A	R/C	uc003mab.2	protein_coding	YES	CCDS4369.1			2230/4572									ovary(3)|skin(1)	4	c.(2230-2232)CGC>TGC			hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF15,Pfam_domain:PF01462,SMART_domains:SM00013	slit homolog 3 precursor				ENSP00000430333		20/36	8.24E-06					1.54E-05			rs772402436,COSM2150862,COSM3410123	20/36	.		ENST00000519560	Transcript			apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	ENSG00000184347	g.chr5:168175347G>A	11087			MODERATE		2.52	medium	getma.org/?cm=msa&ty=f&p=SLIT3_HUMAN&rb=704&re=771&var=R744C	getma.org/pdb.php?prot=SLIT3_HUMAN&from=724&to=751&var=R744C	getma.org/?cm=var&var=hg19,5,168175347,G,A&fts=all	R744C	--	--	1																																		SLIT3_uc010jjg.2_Missense_Mutation_p.R744C	0,1,1	1		possibly_damaging(0.863)	p.R744C	NM_003062	NP_003053		deleterious(0.01)	0,1,1	SLIT3_HUMAN	SLIT3	HGNC	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)				20	2650	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	UPI00001B0229	744			LRRNT 4.		SNV	SLIT3,missense_variant,p.Arg744Cys,ENST00000519560,NM_003062.3,NM_001271946.1;SLIT3,missense_variant,p.Arg744Cys,ENST00000332966,;SLIT3,missense_variant,p.Arg744Cys,ENST00000404867,;SLIT3,downstream_gene_variant,,ENST00000519486,;	uc003mab.2	c.2230C>T	2650/9706	1	1			c.2230C>T						5	SNP	c.(2230-2232)CGC>TGC	50	50			ovary(3)|skin(1)	4	Broad	slit homolog 3 precursor			168175347		0.632	ENSG00000184347	14512	g.chr5:168175347G>A	apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	Ovarian(29;311 847 10864 17279 24903)			Ovarian(29;311 847 10864 17279 24903)			219.386949	KEEP	40	37	-1	93	62	40	37	-1	224.11412	93	62	0.342593	1	0	0	0	0	1	0	0	0	--	--		0	A			SLIT3_uc010jjg.2_Missense_Mutation_p.R744C	49	GBM-06-0213-TP	p.R744C	G	GGGAGGGCGCGGAGCCCCTTG	NM_003062	NP_003053	168175347	O75094	SLIT3_HUMAN	0	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		20	2650	-	A	A	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Missense_Mutation	744			LRRNT 4.			
SLIT3	0	broad.mit.edu	GRCh37	5	168112721	168112721	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs143177032		TCGA-26-5135-01	TCGA-26-5135-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000519560.1:c.3526G>A	p.Val1176Ile	p.V1176I	ENST00000519560	NM_003062.3	1176	Gtc/Atc	0			1			T	V/I	uc003mab.2	protein_coding	YES	CCDS4369.1			3526/4572									ovary(3)|skin(1)	4	c.(3526-3528)GTC>ATC			PROSITE_profiles:PS50025,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF15,Gene3D:2.60.120.200,Superfamily_domains:SSF49899	slit homolog 3 precursor				ENSP00000430333		31/36									COSM2157094,COSM3410120	31/36	.		ENST00000519560	Transcript			apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	ENSG00000184347	g.chr5:168112721C>T	11087			MODERATE		0.255	neutral	getma.org/?cm=msa&ty=f&p=SLIT3_HUMAN&rb=1158&re=1332&var=V1176I	getma.org/pdb.php?prot=SLIT3_HUMAN&from=1158&to=1332&var=V1176I	getma.org/?cm=var&var=hg19,5,168112721,C,T&fts=all	V1176I	--	--	1																																		SLIT3_uc010jjg.2_Missense_Mutation_p.V1183I	1,1	1		benign(0.003)	p.V1176I	NM_003062	NP_003053		tolerated(0.63)	1,1	SLIT3_HUMAN	SLIT3	HGNC	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)				31	3946	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	UPI00001B0229	1176			Laminin G-like.		SNV	SLIT3,missense_variant,p.Val1176Ile,ENST00000519560,NM_003062.3,NM_001271946.1;SLIT3,missense_variant,p.Val1183Ile,ENST00000332966,;SLIT3,missense_variant,p.Val1176Ile,ENST00000404867,;SLIT3,splice_donor_variant,,ENST00000518092,;	uc003mab.2	c.3526G>A	3946/9706	1	1			c.3526G>A						5	SNP	c.(3526-3528)GTC>ATC	12	12			ovary(3)|skin(1)	4	Broad	slit homolog 3 precursor			168112721		0.607	ENSG00000184347	14512	g.chr5:168112721C>T	apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	Ovarian(29;311 847 10864 17279 24903)			Ovarian(29;311 847 10864 17279 24903)			190.982856	KEEP	33	35	-1	55	48	33	35	-1	192.377078	55	48	0.4	1	0	0	0	0	1	0	0	0	--	--		0	T			SLIT3_uc010jjg.2_Missense_Mutation_p.V1183I	184	GBM-26-5135-TP	p.V1176I	C	TGGGGTCGGACCTTGGCGGAG	NM_003062	NP_003053	168112721	O75094	SLIT3_HUMAN	0	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		31	3946	-	T	T	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Missense_Mutation	1176			Laminin G-like.			
SLIT3	0	broad.mit.edu	GRCh37	5	168176560	168176560	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01	TCGA-27-1836-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000519560.1:c.2054G>A	p.Ser685Asn	p.S685N	ENST00000519560	NM_003062.3	685	aGt/aAt	0			1			T	S/N	uc003mab.2	protein_coding	YES	CCDS4369.1			2054/4572									ovary(3)|skin(1)	4	c.(2053-2055)AGT>AAT			hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF15,Gene3D:3.80.10.10,SMART_domains:SM00082	slit homolog 3 precursor				ENSP00000430333		19/36									COSM3410124,COSM3410125	19/36	.		ENST00000519560	Transcript			apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	ENSG00000184347	g.chr5:168176560C>T	11087			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=SLIT3_HUMAN&rb=663&re=713&var=S685N	getma.org/pdb.php?prot=SLIT3_HUMAN&from=663&to=713&var=S685N	getma.org/?cm=var&var=hg19,5,168176560,C,T&fts=all	S685N	--	--	1																																		SLIT3_uc010jjg.2_Missense_Mutation_p.S685N	1,1	1		probably_damaging(0.993)	p.S685N	NM_003062	NP_003053		deleterious(0.01)	1,1	SLIT3_HUMAN	SLIT3	HGNC	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)				19	2474	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	UPI00001B0229	685			LRRCT 3.		SNV	SLIT3,missense_variant,p.Ser685Asn,ENST00000519560,NM_003062.3,NM_001271946.1;SLIT3,missense_variant,p.Ser685Asn,ENST00000332966,;SLIT3,missense_variant,p.Ser685Asn,ENST00000404867,;SLIT3,downstream_gene_variant,,ENST00000519486,;	uc003mab.2	c.2054G>A	2474/9706	1	1			c.2054G>A						5	SNP	c.(2053-2055)AGT>AAT	2	2			ovary(3)|skin(1)	4	Broad	slit homolog 3 precursor			168176560		0.557	ENSG00000184347	14512	g.chr5:168176560C>T	apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	Ovarian(29;311 847 10864 17279 24903)			Ovarian(29;311 847 10864 17279 24903)			128.401196	KEEP	27	21	-1	44	64	27	21	-1	132.438975	44	64	0.321678	1	0	0	0	0	1	0	0	0	--	--		0	T			SLIT3_uc010jjg.2_Missense_Mutation_p.S685N	195	GBM-27-1836-TP	p.S685N	C	AGGGTTCCCACTGACGATCCG	NM_003062	NP_003053	168176560	O75094	SLIT3_HUMAN	0	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		19	2474	-	T	T	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Missense_Mutation	685			LRRCT 3.			
SLIT3	0	broad.mit.edu	GRCh37	5	168233574	168233574	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-28-2509-01	TCGA-28-2509-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000519560.1:c.812C>A	p.Pro271Gln	p.P271Q	ENST00000519560	NM_003062.3	271	cCa/cAa	0			1			T	P/Q	uc003mab.2	protein_coding	YES	CCDS4369.1			812/4572									ovary(3)|skin(1)	4	c.(811-813)CCA>CAA			hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF15	slit homolog 3 precursor				ENSP00000430333		Sep-36									COSM3410128,COSM3410129	Sep-36	.		ENST00000519560	Transcript			apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	ENSG00000184347	g.chr5:168233574G>T	11087			MODERATE		0.9	low	getma.org/?cm=msa&ty=f&p=SLIT3_HUMAN&rb=271&re=307&var=P271Q	NA	getma.org/?cm=var&var=hg19,5,168233574,G,T&fts=all	P271Q	--	--	1																																		SLIT3_uc010jjg.2_Missense_Mutation_p.P271Q|SLIT3_uc010jji.2_Missense_Mutation_p.P271Q|SLIT3_uc003mac.1_Missense_Mutation_p.P68Q	1,1	1		benign(0.157)	p.P271Q	NM_003062	NP_003053		tolerated(0.32)	1,1	SLIT3_HUMAN	SLIT3	HGNC	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)				9	1232	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	UPI00001B0229	271			LRRNT 2.		SNV	SLIT3,missense_variant,p.Pro271Gln,ENST00000519560,NM_003062.3,NM_001271946.1;SLIT3,missense_variant,p.Pro271Gln,ENST00000332966,;SLIT3,missense_variant,p.Pro271Gln,ENST00000404867,;SLIT3,non_coding_transcript_exon_variant,,ENST00000518140,;SLIT3,non_coding_transcript_exon_variant,,ENST00000521150,;	uc003mab.2	c.812C>A	1232/9706	1	1			c.812C>A						5	SNP	c.(811-813)CCA>CAA	10	10			ovary(3)|skin(1)	4	Broad	slit homolog 3 precursor			168233574		0.567	ENSG00000184347	14512	g.chr5:168233574G>T	apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	Ovarian(29;311 847 10864 17279 24903)			Ovarian(29;311 847 10864 17279 24903)			168.403904	KEEP	32	35	0.47761194	35	38	32	35	0.47761194	168.411141	35	38	0.491228	1	0	0	0	0	1	0	0	0	--	--		0	T			SLIT3_uc010jjg.2_Missense_Mutation_p.P271Q|SLIT3_uc010jji.2_Missense_Mutation_p.P271Q|SLIT3_uc003mac.1_Missense_Mutation_p.P68Q	211	GBM-28-2509-TP	p.P271Q	G	ATTGCAGGATGGGGGCTCCGA	NM_003062	NP_003053	168233574	O75094	SLIT3_HUMAN	0	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1232	-	T	T	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Missense_Mutation	271			LRRNT 2.			
SLIT3	0	broad.mit.edu	GRCh37	5	168149967	168149967	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-41-3392-01	TCGA-41-3392-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000519560.1:c.2382C>A	p.Thr794=	p.T794=	ENST00000519560	NM_003062.3	794	acC/acA	0			1			T	T	uc003mab.2	protein_coding	YES	CCDS4369.1			2382/4572									ovary(3)|skin(1)	4	c.(2380-2382)ACC>ACA			PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF15,Gene3D:3.80.10.10,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52058	slit homolog 3 precursor				ENSP00000430333		22/36									COSM1065653,COSM3410122	22/36	.		ENST00000519560	Transcript			apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	ENSG00000184347	g.chr5:168149967G>T	11087			LOW								--	--	1																																		SLIT3_uc010jjg.2_Silent_p.T794T	1,1	1			p.T794T	NM_003062	NP_003053			1,1	SLIT3_HUMAN	SLIT3	HGNC	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)				22	2802	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	UPI00001B0229	794			LRR 18.		SNV	SLIT3,synonymous_variant,p.=,ENST00000519560,NM_003062.3,NM_001271946.1;SLIT3,synonymous_variant,p.=,ENST00000332966,;SLIT3,synonymous_variant,p.=,ENST00000404867,;CTC-558O2.1,downstream_gene_variant,,ENST00000522615,;	uc003mab.2	c.2382C>A	2802/9706	2	2			c.2382C>A						5	SNP	c.(2380-2382)ACC>ACA	25	25			ovary(3)|skin(1)	4	Broad	slit homolog 3 precursor			168149967		0.478	ENSG00000184347	14512	g.chr5:168149967G>T	apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	Ovarian(29;311 847 10864 17279 24903)			Ovarian(29;311 847 10864 17279 24903)			95.832681	KEEP	18	25	0.418604651	58	73	18	25	0.418604651	104.016826	58	73	0.256579	1	0	0	0	0	0	0	1	0	--	--		0	T			SLIT3_uc010jjg.2_Silent_p.T794T	254	GBM-41-3392-TP	p.T794T	G	TGTTACTGAAGGTGTAATTGG	NM_003062	NP_003053	168149967	O75094	SLIT3_HUMAN	0	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		22	2802	-	T	T	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Silent	794			LRR 18.			
SLIT3	6586		GRCh37	5	168620553	168620553	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000519560.1:c.343C>T	p.Arg115Cys	p.R115C	ENST00000519560	NM_003062.3	115	Cgc/Tgc	0																																																																																																																																																																																																																																												
SLITRK1	114798	broad.mit.edu	GRCh37	13	84455310	84455310	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-5414-01	TCGA-06-5414-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377084.2:c.333G>T	p.Leu111=	p.L111=	ENST00000377084	NM_052910.2	111	ctG/ctT	0			1			A	L	uc001vlk.2	protein_coding	YES	CCDS9464.1			333/2091									ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	c.(331-333)CTG>CTT			Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF33,SMART_domains:SM00369,Superfamily_domains:SSF52058	slit and trk like 1 protein precursor				ENSP00000366288		1-Jan									COSM3399452	1-Jan	.		ENST00000377084	Transcript	1			integral to membrane		ENSG00000178235	g.chr13:84455310C>A	20297			LOW								--	--	1																																			1	1			p.L111L	NM_052910	NP_443142			1	SLIK1_HUMAN	SLITRK1	HGNC	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)			1	1219	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	UPI0000035971	111			Extracellular (Potential).|LRR 3.		SNV	SLITRK1,synonymous_variant,p.=,ENST00000377084,NM_052910.2,NM_001281503.1;	uc001vlk.2	c.333G>T	1219/5185	2	2			c.333G>T						13	SNP	c.(331-333)CTG>CTT	41	41			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Broad	slit and trk like 1 protein precursor			84455310		0.433	ENSG00000178235	14513	g.chr13:84455310C>A		integral to membrane								64.829698	KEEP	13	13	0.5	38	48	13	13	0.5	71.251067	38	48	0.242991	1	0	0	0	0	0	0	1	0	--	--		0	A				97	GBM-06-5414-TP	p.L111L	C	TGTTGATGTGCAGCCTTTTCA	NM_052910	NP_443142	84455310	Q96PX8	SLIK1_HUMAN	0		GBM - Glioblastoma multiforme(99;0.07)	1	1219	-	A	A	Medulloblastoma(90;0.18)	Breast(118;0.212)	Silent	111			Extracellular (Potential).|LRR 3.			
SLITRK1	0	broad.mit.edu	GRCh37	13	84455093	84455093	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-12-5301-01	TCGA-12-5301-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377084.2:c.550C>G	p.Leu184Val	p.L184V	ENST00000377084	NM_052910.2	184	Ctc/Gtc	0			1			C	L/V	uc001vlk.2	protein_coding	YES	CCDS9464.1			550/2091									ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	c.(550-552)CTC>GTC			Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF33,SMART_domains:SM00369,Superfamily_domains:SSF52058	slit and trk like 1 protein precursor				ENSP00000366288		1-Jan									COSM3399451	1-Jan	.		ENST00000377084	Transcript	1			integral to membrane		ENSG00000178235	g.chr13:84455093G>C	20297			MODERATE		2.625	medium	getma.org/?cm=msa&ty=f&p=SLIK1_HUMAN&rb=130&re=189&var=L184V	getma.org/pdb.php?prot=SLIK1_HUMAN&from=130&to=189&var=L184V	getma.org/?cm=var&var=hg19,13,84455093,G,C&fts=all	L184V	--	--	1																																			1	1		probably_damaging(0.986)	p.L184V	NM_052910	NP_443142		deleterious(0)	1	SLIK1_HUMAN	SLITRK1	HGNC	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)			1	1436	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	UPI0000035971	184			Extracellular (Potential).|LRR 6.		SNV	SLITRK1,missense_variant,p.Leu184Val,ENST00000377084,NM_052910.2,NM_001281503.1;	uc001vlk.2	c.550C>G	1436/5185	3	3			c.550C>G						13	SNP	c.(550-552)CTC>GTC	62	62			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Broad	slit and trk like 1 protein precursor			84455093		0.532	ENSG00000178235	14513	g.chr13:84455093G>C		integral to membrane								278.593269	KEEP	46	53	-1	69	74	46	53	-1	280.17548	69	74	0.408451	1	0	0	0	0	1	0	0	0	--	--		0	C				131	GBM-12-5301-TP	p.L184V	G	TTACCCCGGAGGTCGAGGTGG	NM_052910	NP_443142	84455093	Q96PX8	SLIK1_HUMAN	0		GBM - Glioblastoma multiforme(99;0.07)	1	1436	-	C	C	Medulloblastoma(90;0.18)	Breast(118;0.212)	Missense_Mutation	184			Extracellular (Potential).|LRR 6.			
SLITRK2	84631	broad.mit.edu	GRCh37	X	144906039	144906039	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0216-01	TCGA-06-0216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370490.1:c.2096C>T	p.Pro699Leu	p.P699L	ENST00000370490		699	cCc/cTc	0			1			T	P/L	uc004fcd.2	protein_coding	YES	CCDS14680.1			2096/2538									ovary(5)|central_nervous_system(1)|pancreas(1)	7	c.(2095-2097)CCC>CTC			hmmpanther:PTHR24373:SF36,hmmpanther:PTHR24373	SLIT and NTRK-like family, member 2 precursor				ENSP00000359521		1-Jan									COSM2150909	1-Jan	.		ENST00000370490	Transcript				integral to membrane		ENSG00000185985	g.chrX:144906039C>T	13449			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=SLIK2_HUMAN&rb=647&re=845&var=P699L	NA	getma.org/?cm=var&var=hg19,X,144906039,C,T&fts=all	P699L	--	--	1																																		SLITRK2_uc010nsp.2_Missense_Mutation_p.P699L|SLITRK2_uc010nso.2_Missense_Mutation_p.P699L|SLITRK2_uc011mwq.1_Missense_Mutation_p.P699L|SLITRK2_uc011mwr.1_Missense_Mutation_p.P699L|SLITRK2_uc011mws.1_Missense_Mutation_p.P699L|SLITRK2_uc004fcg.2_Missense_Mutation_p.P699L|SLITRK2_uc011mwt.1_Missense_Mutation_p.P699L|CXorf1_uc004fch.2_5'Flank	1	1		possibly_damaging(0.889)	p.P699L	NM_032539	NP_115928		deleterious(0)	1	SLIK2_HUMAN	SLITRK2	HGNC	Q9H156	SLIK2_HUMAN			B3KTY4_HUMAN		5	3086	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000004E64B	699			Cytoplasmic (Potential).		SNV	SLITRK2,missense_variant,p.Pro699Leu,ENST00000370490,;SLITRK2,missense_variant,p.Pro699Leu,ENST00000447897,;SLITRK2,missense_variant,p.Pro699Leu,ENST00000434188,NM_001144008.2,NM_001144005.2,NM_001144003.2;SLITRK2,missense_variant,p.Pro699Leu,ENST00000413937,NM_001144010.2,NM_001144006.2,NM_001144004.2;SLITRK2,missense_variant,p.Pro699Leu,ENST00000428560,NM_001144009.2;SLITRK2,missense_variant,p.Pro699Leu,ENST00000335565,NM_032539.4;TMEM257,upstream_gene_variant,,ENST00000408967,NM_004709.2;	uc004fcd.2	c.2096C>T	6351/7672	1	1			c.2096C>T						23	SNP	c.(2095-2097)CCC>CTC	4	4			ovary(5)|central_nervous_system(1)|pancreas(1)	7	Broad	SLIT and NTRK-like family, member 2 precursor			144906039		0.478	ENSG00000185985	14514	g.chrX:144906039C>T		integral to membrane								138.325036	KEEP	29	22	-1	43	58	29	22	-1	142.193705	43	58	0.328859	1	0	0	0	0	1	0	0	0	--	--		0	T			SLITRK2_uc010nsp.2_Missense_Mutation_p.P699L|SLITRK2_uc010nso.2_Missense_Mutation_p.P699L|SLITRK2_uc011mwq.1_Missense_Mutation_p.P699L|SLITRK2_uc011mwr.1_Missense_Mutation_p.P699L|SLITRK2_uc011mws.1_Missense_Mutation_p.P699L|SLITRK2_uc004fcg.2_Missense_Mutation_p.P699L|SLITRK2_uc011mwt.1_Missense_Mutation_p.P699L|CXorf1_uc004fch.2_5'Flank	51	GBM-06-0216-TP	p.P699L	C	TGCCAAAACCCCATCTACATG	NM_032539	NP_115928	144906039	Q9H156	SLIK2_HUMAN	0			5	3086	+	T	T	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	699			Cytoplasmic (Potential).			
SLITRK2	84631	broad.mit.edu	GRCh37	X	144904765	144904765	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0939-01	TCGA-06-0939-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370490.1:c.822G>A	p.Arg274=	p.R274=	ENST00000370490		274	agG/agA	0			1			A	R	uc004fcd.2	protein_coding	YES	CCDS14680.1			822/2538									ovary(5)|central_nervous_system(1)|pancreas(1)	7	c.(820-822)AGG>AGA			hmmpanther:PTHR24373:SF36,hmmpanther:PTHR24373	SLIT and NTRK-like family, member 2 precursor				ENSP00000359521		1-Jan	8.24E-06					2.09E-05			rs781845889,COSM2152415	1-Jan	.		ENST00000370490	Transcript				integral to membrane		ENSG00000185985	g.chrX:144904765G>A	13449			LOW								--	--	1																																		SLITRK2_uc010nsp.2_Silent_p.R274R|SLITRK2_uc010nso.2_Silent_p.R274R|SLITRK2_uc011mwq.1_Silent_p.R274R|SLITRK2_uc011mwr.1_Silent_p.R274R|SLITRK2_uc011mws.1_Silent_p.R274R|SLITRK2_uc004fcg.2_Silent_p.R274R|SLITRK2_uc011mwt.1_Silent_p.R274R	0,1	1			p.R274R	NM_032539	NP_115928			0,1	SLIK2_HUMAN	SLITRK2	HGNC	Q9H156	SLIK2_HUMAN			B3KTY4_HUMAN		5	1812	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000004E64B	274			Extracellular (Potential).		SNV	SLITRK2,synonymous_variant,p.=,ENST00000370490,;SLITRK2,synonymous_variant,p.=,ENST00000447897,;SLITRK2,synonymous_variant,p.=,ENST00000434188,NM_001144008.2,NM_001144005.2,NM_001144003.2;SLITRK2,synonymous_variant,p.=,ENST00000413937,NM_001144010.2,NM_001144006.2,NM_001144004.2;SLITRK2,synonymous_variant,p.=,ENST00000428560,NM_001144009.2;SLITRK2,synonymous_variant,p.=,ENST00000335565,NM_032539.4;TMEM257,upstream_gene_variant,,ENST00000408967,NM_004709.2;	uc004fcd.2	c.822G>A	5077/7672	2	2			c.822G>A						23	SNP	c.(820-822)AGG>AGA	25	25			ovary(5)|central_nervous_system(1)|pancreas(1)	7	Broad	SLIT and NTRK-like family, member 2 precursor			144904765		0.557	ENSG00000185985	14514	g.chrX:144904765G>A		integral to membrane								160.251751	KEEP	28	48	-1	89	113	28	48	-1	171.231154	89	113	0.268722	1	0	0	0	0	0	0	1	0	--	--		0	A			SLITRK2_uc010nsp.2_Silent_p.R274R|SLITRK2_uc010nso.2_Silent_p.R274R|SLITRK2_uc011mwq.1_Silent_p.R274R|SLITRK2_uc011mwr.1_Silent_p.R274R|SLITRK2_uc011mws.1_Silent_p.R274R|SLITRK2_uc004fcg.2_Silent_p.R274R|SLITRK2_uc011mwt.1_Silent_p.R274R	78	GBM-06-0939-TP	p.R274R	G	CCAGTCAGAGGGGCAGCCATG	NM_032539	NP_115928	144904765	Q9H156	SLIK2_HUMAN	0			5	1812	+	A	A	Acute lymphoblastic leukemia(192;6.56e-05)		Silent	274			Extracellular (Potential).			
SLITRK2	84631	broad.mit.edu	GRCh37	X	144905002	144905002	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-5412-01	TCGA-06-5412-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370490.1:c.1059T>C	p.Asn353=	p.N353=	ENST00000370490		353	aaT/aaC	0			1			C	N	uc004fcd.2	protein_coding	YES	CCDS14680.1			1059/2538									ovary(5)|central_nervous_system(1)|pancreas(1)	7	c.(1057-1059)AAT>AAC			hmmpanther:PTHR24373:SF36,hmmpanther:PTHR24373,Gene3D:3.80.10.10,SMART_domains:SM00013,Superfamily_domains:SSF52058	SLIT and NTRK-like family, member 2 precursor				ENSP00000359521		1-Jan									COSM3406044	1-Jan	.		ENST00000370490	Transcript				integral to membrane		ENSG00000185985	g.chrX:144905002T>C	13449			LOW								--	--	1																																		SLITRK2_uc010nsp.2_Silent_p.N353N|SLITRK2_uc010nso.2_Silent_p.N353N|SLITRK2_uc011mwq.1_Silent_p.N353N|SLITRK2_uc011mwr.1_Silent_p.N353N|SLITRK2_uc011mws.1_Silent_p.N353N|SLITRK2_uc004fcg.2_Silent_p.N353N|SLITRK2_uc011mwt.1_Silent_p.N353N	1	1			p.N353N	NM_032539	NP_115928			1	SLIK2_HUMAN	SLITRK2	HGNC	Q9H156	SLIK2_HUMAN			B3KTY4_HUMAN		5	2049	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000004E64B	353			Extracellular (Potential).|LRRNT.		SNV	SLITRK2,synonymous_variant,p.=,ENST00000370490,;SLITRK2,synonymous_variant,p.=,ENST00000447897,;SLITRK2,synonymous_variant,p.=,ENST00000434188,NM_001144008.2,NM_001144005.2,NM_001144003.2;SLITRK2,synonymous_variant,p.=,ENST00000413937,NM_001144010.2,NM_001144006.2,NM_001144004.2;SLITRK2,synonymous_variant,p.=,ENST00000428560,NM_001144009.2;SLITRK2,synonymous_variant,p.=,ENST00000335565,NM_032539.4;TMEM257,upstream_gene_variant,,ENST00000408967,NM_004709.2;	uc004fcd.2	c.1059T>C	5314/7672	3	3			c.1059T>C						23	SNP	c.(1057-1059)AAT>AAC	55	55			ovary(5)|central_nervous_system(1)|pancreas(1)	7	Broad	SLIT and NTRK-like family, member 2 precursor			144905002		0.493	ENSG00000185985	14514	g.chrX:144905002T>C		integral to membrane								23.118536	KEEP	6	9	-1	41	40	6	9	-1	33.144906	41	40	0.151163	1	0	0	0	0	0	0	1	0	--	--		0	C			SLITRK2_uc010nsp.2_Silent_p.N353N|SLITRK2_uc010nso.2_Silent_p.N353N|SLITRK2_uc011mwq.1_Silent_p.N353N|SLITRK2_uc011mwr.1_Silent_p.N353N|SLITRK2_uc011mws.1_Silent_p.N353N|SLITRK2_uc004fcg.2_Silent_p.N353N|SLITRK2_uc011mwt.1_Silent_p.N353N	95	GBM-06-5412-TP	p.N353N	T	GCTCAGACAATGGTCTGAATG	NM_032539	NP_115928	144905002	Q9H156	SLIK2_HUMAN	0			5	2049	+	C	C	Acute lymphoblastic leukemia(192;6.56e-05)		Silent	353			Extracellular (Potential).|LRRNT.			
SLITRK2	0	broad.mit.edu	GRCh37	X	144903994	144903997	+	frameshift_variant	Frame_Shift_Del	DEL	ACAG	ACAG	-			TCGA-14-0817-01	TCGA-14-0817-01	ACAG	ACAG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370490.1:c.56_59delCAGA	p.Thr19ArgfsTer23	p.T19Rfs*23	ENST00000370490		17	ttACAG/tt	0			1			-	LQ/X	uc004fcd.2	protein_coding	YES	CCDS14680.1			51-54/2538									ovary(5)|central_nervous_system(1)|pancreas(1)	7	c.(49-54)TTACAGfs			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24373:SF36,hmmpanther:PTHR24373	SLIT and NTRK-like family, member 2 precursor				ENSP00000359521		1-Jan										1-Jan	.		ENST00000370490	Transcript				integral to membrane		ENSG00000185985	g.chrX:144903994_144903997delACAG	13449	5		HIGH								--	--	1																																		SLITRK2_uc010nsp.2_Frame_Shift_Del_p.L17fs|SLITRK2_uc010nso.2_Frame_Shift_Del_p.L17fs|SLITRK2_uc011mwq.1_Frame_Shift_Del_p.L17fs|SLITRK2_uc011mwr.1_Frame_Shift_Del_p.L17fs|SLITRK2_uc011mws.1_Frame_Shift_Del_p.L17fs|SLITRK2_uc004fcg.2_Frame_Shift_Del_p.L17fs|SLITRK2_uc011mwt.1_Frame_Shift_Del_p.L17fs		1			p.L17fs	NM_032539	NP_115928				SLIK2_HUMAN	SLITRK2	HGNC	Q9H156	SLIK2_HUMAN			B3KTY4_HUMAN		5	1041_1044	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000004E64B	17_18					deletion	SLITRK2,frameshift_variant,p.Thr19ArgfsTer23,ENST00000370490,;SLITRK2,frameshift_variant,p.Thr19ArgfsTer23,ENST00000447897,;SLITRK2,frameshift_variant,p.Thr19ArgfsTer23,ENST00000434188,NM_001144008.2,NM_001144005.2,NM_001144003.2;SLITRK2,frameshift_variant,p.Thr19ArgfsTer23,ENST00000413937,NM_001144010.2,NM_001144006.2,NM_001144004.2;SLITRK2,frameshift_variant,p.Thr19ArgfsTer23,ENST00000428560,NM_001144009.2;SLITRK2,frameshift_variant,p.Thr19ArgfsTer23,ENST00000335565,NM_032539.4;TMEM257,upstream_gene_variant,,ENST00000408967,NM_004709.2;	uc004fcd.2	c.51_54delACAG	4306-4309/7672	5	5			c.51_54delACAG						23	DEL	c.(49-54)TTACAGfs	2	2			ovary(5)|central_nervous_system(1)|pancreas(1)	7	Broad	SLIT and NTRK-like family, member 2 precursor			144903997		0.471	ENSG00000185985	14514	g.chrX:144903994_144903997delACAG		integral to membrane																					0.41	1	1	0	1	0	0	0	0	0	--	--		0	-			SLITRK2_uc010nsp.2_Frame_Shift_Del_p.L17fs|SLITRK2_uc010nso.2_Frame_Shift_Del_p.L17fs|SLITRK2_uc011mwq.1_Frame_Shift_Del_p.L17fs|SLITRK2_uc011mwr.1_Frame_Shift_Del_p.L17fs|SLITRK2_uc011mws.1_Frame_Shift_Del_p.L17fs|SLITRK2_uc004fcg.2_Frame_Shift_Del_p.L17fs|SLITRK2_uc011mwt.1_Frame_Shift_Del_p.L17fs	139	GBM-14-0817-TP	p.L17fs	ACAG	CCGGGATCTTACAGACAGAGAGTC	NM_032539	NP_115928	144903994	Q9H156	SLIK2_HUMAN	0			5	1041_1044	+	-	-	Acute lymphoblastic leukemia(192;6.56e-05)		Frame_Shift_Del	17_18						
SLITRK2	0	broad.mit.edu	GRCh37	X	144906297	144906297	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4208-01	TCGA-32-4208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370490.1:c.2354C>T	p.Ala785Val	p.A785V	ENST00000370490		785	gCc/gTc	0			1			T	A/V	uc004fcd.2	protein_coding	YES	CCDS14680.1			2354/2538									ovary(5)|central_nervous_system(1)|pancreas(1)	7	c.(2353-2355)GCC>GTC			hmmpanther:PTHR24373:SF36,hmmpanther:PTHR24373	SLIT and NTRK-like family, member 2 precursor				ENSP00000359521		1-Jan									COSM1466181	1-Jan	.		ENST00000370490	Transcript				integral to membrane		ENSG00000185985	g.chrX:144906297C>T	13449			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=SLIK2_HUMAN&rb=647&re=845&var=A785V	NA	getma.org/?cm=var&var=hg19,X,144906297,C,T&fts=all	A785V	--	--	1																																		SLITRK2_uc010nsp.2_Missense_Mutation_p.A785V|SLITRK2_uc010nso.2_Missense_Mutation_p.A785V|SLITRK2_uc011mwq.1_Missense_Mutation_p.A785V|SLITRK2_uc011mwr.1_Missense_Mutation_p.A785V|SLITRK2_uc011mws.1_Missense_Mutation_p.A785V|SLITRK2_uc004fcg.2_Missense_Mutation_p.A785V|SLITRK2_uc011mwt.1_Missense_Mutation_p.A785V|CXorf1_uc004fch.2_5'Flank	1	1		benign(0.006)	p.A785V	NM_032539	NP_115928		tolerated(0.57)	1	SLIK2_HUMAN	SLITRK2	HGNC	Q9H156	SLIK2_HUMAN			B3KTY4_HUMAN		5	3344	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000004E64B	785			Cytoplasmic (Potential).		SNV	SLITRK2,missense_variant,p.Ala785Val,ENST00000370490,;SLITRK2,missense_variant,p.Ala785Val,ENST00000447897,;SLITRK2,missense_variant,p.Ala785Val,ENST00000434188,NM_001144008.2,NM_001144005.2,NM_001144003.2;SLITRK2,missense_variant,p.Ala785Val,ENST00000413937,NM_001144010.2,NM_001144006.2,NM_001144004.2;SLITRK2,missense_variant,p.Ala785Val,ENST00000428560,NM_001144009.2;SLITRK2,downstream_gene_variant,,ENST00000335565,NM_032539.4;TMEM257,upstream_gene_variant,,ENST00000408967,NM_004709.2;	uc004fcd.2	c.2354C>T	6609/7672	2	2			c.2354C>T						23	SNP	c.(2353-2355)GCC>GTC	28	28			ovary(5)|central_nervous_system(1)|pancreas(1)	7	Broad	SLIT and NTRK-like family, member 2 precursor			144906297		0.453	ENSG00000185985	14514	g.chrX:144906297C>T		integral to membrane								-44.566784	KEEP	4	0	-1	97	119	4	0	-1	6.530588	97	119	0.020202	1	0	0	0	0	1	0	0	0	--	--		0	T			SLITRK2_uc010nsp.2_Missense_Mutation_p.A785V|SLITRK2_uc010nso.2_Missense_Mutation_p.A785V|SLITRK2_uc011mwq.1_Missense_Mutation_p.A785V|SLITRK2_uc011mwr.1_Missense_Mutation_p.A785V|SLITRK2_uc011mws.1_Missense_Mutation_p.A785V|SLITRK2_uc004fcg.2_Missense_Mutation_p.A785V|SLITRK2_uc011mwt.1_Missense_Mutation_p.A785V|CXorf1_uc004fch.2_5'Flank	243	GBM-32-4208-TP	p.A785V	C	AGGCAGTTTGCCCCTTCCTAT	NM_032539	NP_115928	144906297	Q9H156	SLIK2_HUMAN	0			5	3344	+	T	T	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	785			Cytoplasmic (Potential).			
SLITRK4	139065	broad.mit.edu	GRCh37	X	142718314	142718314	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01	TCGA-06-0155-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381779.4:c.611G>A	p.Arg204His	p.R204H	ENST00000381779	NM_001184750.1	204	cGt/cAt	0			1			T	R/H	uc004fbx.2	protein_coding		CCDS14679.1			611/2514									upper_aerodigestive_tract(1)|large_intestine(1)	2	c.(610-612)CGT>CAT			hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF11,Gene3D:3.80.10.10,Superfamily_domains:SSF52058	slit and trk like 4 protein precursor				ENSP00000336627		2-Feb									COSM205441	2-Feb	.		ENST00000338017	Transcript				integral to membrane		ENSG00000179542	g.chrX:142718314C>T	23502			MODERATE		0.52	neutral	getma.org/?cm=msa&ty=f&p=SLIK4_HUMAN&rb=155&re=214&var=R204H	getma.org/pdb.php?prot=SLIK4_HUMAN&from=155&to=214&var=R204H	getma.org/?cm=var&var=hg19,X,142718314,C,T&fts=all	R204H	--	--	1																																		SLITRK4_uc004fby.2_Missense_Mutation_p.R204H	1			probably_damaging(0.998)	p.R204H	NM_173078	NP_775101		tolerated(0.11)	1	SLIK4_HUMAN	SLITRK4	HGNC	Q8IW52	SLIK4_HUMAN					2	987	-	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000004E650	204			Extracellular (Potential).		SNV	SLITRK4,missense_variant,p.Arg204His,ENST00000381779,NM_001184750.1,NM_173078.4,NM_001184749.2;SLITRK4,missense_variant,p.Arg204His,ENST00000338017,;SLITRK4,missense_variant,p.Arg204His,ENST00000356928,;	uc004fbx.2	c.611G>A	987/3357	2	2			c.611G>A						23	SNP	c.(610-612)CGT>CAT	29	29			upper_aerodigestive_tract(1)|large_intestine(1)	2	Broad	slit and trk like 4 protein precursor			142718314		0.428	ENSG00000179542	14516	g.chrX:142718314C>T		integral to membrane								292.68264	KEEP	46	54	-1	40	36	46	54	-1	293.680912	40	36	0.584906	1	0	0	0	0	1	0	0	0	--	--		0	T			SLITRK4_uc004fby.2_Missense_Mutation_p.R204H	27	GBM-06-0155-TP	p.R204H	C	TTCAACGACACGGCCAATGTG	NM_173078	NP_775101	142718314	Q8IW52	SLIK4_HUMAN	0			2	987	-	T	T	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	204			Extracellular (Potential).			
SLITRK4	0	broad.mit.edu	GRCh37	X	142717642	142717642	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01	TCGA-19-5954-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338017.4:c.1283G>A	p.Arg428His	p.R428H	ENST00000338017		428	cGc/cAc	0			1			T	R/H	uc004fbx.2	protein_coding		CCDS14679.1			1283/2514									upper_aerodigestive_tract(1)|large_intestine(1)	2	c.(1282-1284)CGC>CAC			PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF11,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52058	slit and trk like 4 protein precursor				ENSP00000336627		2-Feb	1.65E-05					4.18E-05			rs782819249,COSM2156765	2-Feb	.		ENST00000338017	Transcript				integral to membrane		ENSG00000179542	g.chrX:142717642C>T	23502			MODERATE		0.985	low	getma.org/?cm=msa&ty=f&p=SLIK4_HUMAN&rb=425&re=485&var=R428H	getma.org/pdb.php?prot=SLIK4_HUMAN&from=425&to=485&var=R428H	getma.org/?cm=var&var=hg19,X,142717642,C,T&fts=all	R428H	--	--	1																																		SLITRK4_uc004fby.2_Missense_Mutation_p.R428H	0,1			probably_damaging(0.938)	p.R428H	NM_173078	NP_775101		deleterious(0)	0,1	SLIK4_HUMAN	SLITRK4	HGNC	Q8IW52	SLIK4_HUMAN					2	1659	-	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000004E650	428			Extracellular (Potential).|LRR 9.		SNV	SLITRK4,missense_variant,p.Arg428His,ENST00000381779,NM_001184750.1,NM_173078.4,NM_001184749.2;SLITRK4,missense_variant,p.Arg428His,ENST00000338017,;SLITRK4,missense_variant,p.Arg428His,ENST00000356928,;	uc004fbx.2	c.1283G>A	1659/3357	1	1			c.1283G>A						23	SNP	c.(1282-1284)CGC>CAC	8	8			upper_aerodigestive_tract(1)|large_intestine(1)	2	Broad	slit and trk like 4 protein precursor			142717642		0.358	ENSG00000179542	14516	g.chrX:142717642C>T		integral to membrane								93.664442	KEEP	17	21	-1	52	44	17	21	-1	98.541003	52	44	0.290323	1	0	0	0	0	1	0	0	0	--	--		0	T			SLITRK4_uc004fby.2_Missense_Mutation_p.R428H	174	GBM-19-5954-TP	p.R428H	C	ATATAGCCTGCGTAAATTAGT	NM_173078	NP_775101	142717642	Q8IW52	SLIK4_HUMAN	0			2	1659	-	T	T	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	428			Extracellular (Potential).|LRR 9.			
SLITRK4	0	broad.mit.edu	GRCh37	X	142718880	142718880	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-3392-01	TCGA-41-3392-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338017.4:c.45G>A	p.Ser15=	p.S15=	ENST00000338017		15	tcG/tcA	0			1			T	S	uc004fbx.2	protein_coding		CCDS14679.1			45/2514									upper_aerodigestive_tract(1)|large_intestine(1)	2	c.(43-45)TCG>TCA			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF11	slit and trk like 4 protein precursor				ENSP00000336627		2-Feb	5.77E-05					4.36E-05		0.000299	rs782432373,COSM3406043	2-Feb	.		ENST00000338017	Transcript				integral to membrane		ENSG00000179542	g.chrX:142718880C>T	23502			LOW								--	--	1																																		SLITRK4_uc004fby.2_Silent_p.S15S	0,1				p.S15S	NM_173078	NP_775101			0,1	SLIK4_HUMAN	SLITRK4	HGNC	Q8IW52	SLIK4_HUMAN					2	421	-	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000004E650	15					SNV	SLITRK4,synonymous_variant,p.=,ENST00000381779,NM_001184750.1,NM_173078.4,NM_001184749.2;SLITRK4,synonymous_variant,p.=,ENST00000338017,;SLITRK4,synonymous_variant,p.=,ENST00000356928,;	uc004fbx.2	c.45G>A	421/3357	2	2			c.45G>A						23	SNP	c.(43-45)TCG>TCA	33	33			upper_aerodigestive_tract(1)|large_intestine(1)	2	Broad	slit and trk like 4 protein precursor			142718880		0.388	ENSG00000179542	14516	g.chrX:142718880C>T		integral to membrane								27.667708	KEEP	5	7	-1	17	29	5	7	-1	31.6995	17	29	0.218182	1	0	0	0	0	0	0	1	0	--	--		0	T			SLITRK4_uc004fby.2_Silent_p.S15S	254	GBM-41-3392-TP	p.S15S	C	CTGCATTTGTCGAAGAAATCA	NM_173078	NP_775101	142718880	Q8IW52	SLIK4_HUMAN	0			2	421	-	T	T	Acute lymphoblastic leukemia(192;6.56e-05)		Silent	15						
SLITRK4	0	broad.mit.edu	GRCh37	X	142717983	142717983	+	synonymous_variant	Silent	SNP	T	T	A			TCGA-76-4927-01	TCGA-76-4927-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338017.4:c.942A>T	p.Gly314=	p.G314=	ENST00000338017		314	ggA/ggT	0			1			A	G	uc004fbx.2	protein_coding		CCDS14679.1			942/2514									upper_aerodigestive_tract(1)|large_intestine(1)	2	c.(940-942)GGA>GGT			hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF11	slit and trk like 4 protein precursor				ENSP00000336627		2-Feb									COSM3406042	2-Feb	.		ENST00000338017	Transcript				integral to membrane		ENSG00000179542	g.chrX:142717983T>A	23502			LOW								--	--	1																																		SLITRK4_uc004fby.2_Silent_p.G314G	1				p.G314G	NM_173078	NP_775101			1	SLIK4_HUMAN	SLITRK4	HGNC	Q8IW52	SLIK4_HUMAN					2	1318	-	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000004E650	314			Extracellular (Potential).		SNV	SLITRK4,synonymous_variant,p.=,ENST00000381779,NM_001184750.1,NM_173078.4,NM_001184749.2;SLITRK4,synonymous_variant,p.=,ENST00000338017,;SLITRK4,synonymous_variant,p.=,ENST00000356928,;	uc004fbx.2	c.942A>T	1318/3357	1	1			c.942A>T						23	SNP	c.(940-942)GGA>GGT	52	52			upper_aerodigestive_tract(1)|large_intestine(1)	2	Broad	slit and trk like 4 protein precursor			142717983		0.463	ENSG00000179542	14516	g.chrX:142717983T>A		integral to membrane								-23.344475	KEEP	6	5	-1	110	103	6	5	-1	18.387162	110	103	0.055	1	0	0	0	0	0	0	1	0	--	--		0	A			SLITRK4_uc004fby.2_Silent_p.G314G	267	GBM-76-4927-TP	p.G314G	T	CTGCAACGATTCCAGAGATCT	NM_173078	NP_775101	142717983	Q8IW52	SLIK4_HUMAN	0			2	1318	-	A	A	Acute lymphoblastic leukemia(192;6.56e-05)		Silent	314			Extracellular (Potential).			
SLITRK5	0	broad.mit.edu	GRCh37	13	88329407	88329407	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5960-01	TCGA-19-5960-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325089.6:c.1764C>T	p.Asp588=	p.D588=	ENST00000325089	NM_015567.1	588	gaC/gaT	0			1			T	D	uc001vln.2	protein_coding	YES	CCDS9465.1			1764/2877									ovary(2)|pancreas(2)|central_nervous_system(1)	5	c.(1762-1764)GAC>GAT			Gene3D:3.80.10.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF10,SMART_domains:SM00082,Superfamily_domains:SSF52058	SLIT and NTRK-like family, member 5 precursor				ENSP00000366283		2-Feb									COSM3399455	2-Feb	.		ENST00000325089	Transcript				integral to membrane		ENSG00000165300	g.chr13:88329407C>T	20295			LOW								--	--	1																																		SLITRK5_uc010tic.1_Silent_p.D347D	1	1			p.D588D	NM_015567	NP_056382			1	SLIK5_HUMAN	SLITRK5	HGNC	O94991	SLIK5_HUMAN					2	1983	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		UPI000015F6F7	588			LRRCT 2.|Extracellular (Potential).		SNV	SLITRK5,synonymous_variant,p.=,ENST00000325089,NM_015567.1;SLITRK5,synonymous_variant,p.=,ENST00000400028,;	uc001vln.2	c.1764C>T	1983/4447	2	2			c.1764C>T						13	SNP	c.(1762-1764)GAC>GAT	36	36			ovary(2)|pancreas(2)|central_nervous_system(1)	5	Broad	SLIT and NTRK-like family, member 5 precursor			88329407		0.512	ENSG00000165300	14517	g.chr13:88329407C>T		integral to membrane								243.678181	KEEP	46	40	-1	55	59	46	40	-1	244.359192	55	59	0.434783	1	0	0	0	0	0	0	1	0	--	--		0	T			SLITRK5_uc010tic.1_Silent_p.D347D	178	GBM-19-5960-TP	p.D588D	C	TCCTAGTGGACGAGGTGATCT	NM_015567	NP_056382	88329407	O94991	SLIK5_HUMAN	0			2	1983	+	T	T	all_neural(89;0.101)|Medulloblastoma(90;0.163)		Silent	588			LRRCT 2.|Extracellular (Potential).			
SLITRK6	84189	broad.mit.edu	GRCh37	13	86370526	86370526	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0152-01	TCGA-06-0152-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400286.2:c.118A>C	p.Lys40Gln	p.K40Q	ENST00000400286	NM_032229.2	40	Aaa/Caa	0			1			G	K/Q	uc001vll.1	protein_coding	YES	CCDS41903.1			118/2526									large_intestine(1)|ovary(1)|central_nervous_system(1)	3	c.(118-120)AAA>CAA			hmmpanther:PTHR24373:SF5,hmmpanther:PTHR24373	slit and trk like 6 precursor				ENSP00000383143		2-Feb									COSM2149854	2-Feb	.		ENST00000400286	Transcript	1			integral to membrane		ENSG00000184564	g.chr13:86370526T>G	23503			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=SLIK6_HUMAN&rb=27&re=67&var=K40Q	NA	getma.org/?cm=var&var=hg19,13,86370526,T,G&fts=all	K40Q	--	--	1																																		SLITRK6_uc010afe.1_5'Flank	1	1		probably_damaging(0.968)	p.K40Q	NM_032229	NP_115605		deleterious(0.02)	1	SLIK6_HUMAN	SLITRK6	HGNC	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)			2	577	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		UPI000004C9D6	40			LRRNT 1.|Extracellular (Potential).		SNV	SLITRK6,missense_variant,p.Lys40Gln,ENST00000400286,NM_032229.2;	uc001vll.1	c.118A>C	717/4318	3	3			c.118A>C						13	SNP	c.(118-120)AAA>CAA	54	54			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Broad	slit and trk like 6 precursor			86370526		0.388	ENSG00000184564	14518	g.chr13:86370526T>G		integral to membrane								152.137487	KEEP	21	27	-1	29	39	21	27	-1	152.741779	29	39	0.417476	1	0	0	0	0	1	0	0	0	--	--		0	G			SLITRK6_uc010afe.1_5'Flank	25	GBM-06-0152-TP	p.K40Q	T	GTGCCATCTTTTTCCTCACAA	NM_032229	NP_115605	86370526	Q9H5Y7	SLIK6_HUMAN	0		GBM - Glioblastoma multiforme(99;0.0456)	2	577	-	G	G	all_neural(89;0.117)|Medulloblastoma(90;0.163)		Missense_Mutation	40			LRRNT 1.|Extracellular (Potential).			
SLITRK6	0	broad.mit.edu	GRCh37	13	86369237	86369237	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-12-0618-01	TCGA-12-0618-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400286.2:c.1407C>A	p.Asn469Lys	p.N469K	ENST00000400286	NM_032229.2	469	aaC/aaA	0			1			T	N/K	uc001vll.1	protein_coding	YES	CCDS41903.1			1407/2526									large_intestine(1)|ovary(1)|central_nervous_system(1)	3	c.(1405-1407)AAC>AAA			Superfamily_domains:SSF52058,SMART_domains:SM00365,SMART_domains:SM00369,Gene3D:3.80.10.10,Pfam_domain:PF13855,hmmpanther:PTHR24373:SF5,hmmpanther:PTHR24373,PROSITE_profiles:PS51450,Low_complexity_(Seg):seg	slit and trk like 6 precursor				ENSP00000383143		2-Feb									COSM3399453	2-Feb	.		ENST00000400286	Transcript	1			integral to membrane		ENSG00000184564	g.chr13:86369237G>T	23503			MODERATE		4.285	high	getma.org/?cm=msa&ty=f&p=SLIK6_HUMAN&rb=459&re=518&var=N469K	getma.org/pdb.php?prot=SLIK6_HUMAN&from=459&to=518&var=N469K	getma.org/?cm=var&var=hg19,13,86369237,G,T&fts=all	N469K	--	--	1																																		SLITRK6_uc010afe.1_Intron	1	1		probably_damaging(1)	p.N469K	NM_032229	NP_115605		deleterious(0)	1	SLIK6_HUMAN	SLITRK6	HGNC	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)			2	1866	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		UPI000004C9D6	469	N -> H (in Ref. 1).		Extracellular (Potential).|LRR 10.		SNV	SLITRK6,missense_variant,p.Asn469Lys,ENST00000400286,NM_032229.2;	uc001vll.1	c.1407C>A	2006/4318	2	2			c.1407C>A						13	SNP	c.(1405-1407)AAC>AAA	23	23			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Broad	slit and trk like 6 precursor			86369237		0.328	ENSG00000184564	14518	g.chr13:86369237G>T		integral to membrane								53.668329	KEEP	12	22	0.352941176	88	129	12	22	0.352941176	81.519439	88	129	0.13964	1	0	0	0	0	1	0	0	0	--	--		0	T			SLITRK6_uc010afe.1_Intron	119	GBM-12-0618-TP	p.N469K	G	CTTGGAGGAGGTTGTTATTTA	NM_032229	NP_115605	86369237	Q9H5Y7	SLIK6_HUMAN	0		GBM - Glioblastoma multiforme(99;0.0456)	2	1866	-	T	T	all_neural(89;0.117)|Medulloblastoma(90;0.163)		Missense_Mutation	469	N -> H (in Ref. 1).		Extracellular (Potential).|LRR 10.			
SLITRK6	0	broad.mit.edu	GRCh37	13	86370546	86370546	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400286.2:c.98C>G	p.Ser33Cys	p.S33C	ENST00000400286	NM_032229.2	33	tCt/tGt	0			1			C	S/C	uc001vll.1	protein_coding	YES	CCDS41903.1			98/2526									large_intestine(1)|ovary(1)|central_nervous_system(1)	3	c.(97-99)TCT>TGT			hmmpanther:PTHR24373:SF5,hmmpanther:PTHR24373	slit and trk like 6 precursor				ENSP00000383143		2-Feb									COSM2155253	2-Feb	.		ENST00000400286	Transcript	1			integral to membrane		ENSG00000184564	g.chr13:86370546G>C	23503			MODERATE		1.78	low	getma.org/?cm=msa&ty=f&p=SLIK6_HUMAN&rb=27&re=67&var=S33C	NA	getma.org/?cm=var&var=hg19,13,86370546,G,C&fts=all	S33C	--	--	1																																		SLITRK6_uc010afe.1_5'Flank	1	1		possibly_damaging(0.56)	p.S33C	NM_032229	NP_115605		deleterious(0.01)	1	SLIK6_HUMAN	SLITRK6	HGNC	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)			2	557	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		UPI000004C9D6	33			LRRNT 1.|Extracellular (Potential).		SNV	SLITRK6,missense_variant,p.Ser33Cys,ENST00000400286,NM_032229.2;	uc001vll.1	c.98C>G	697/4318	3	3			c.98C>G						13	SNP	c.(97-99)TCT>TGT	9	9			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Broad	slit and trk like 6 precursor			86370546		0.403	ENSG00000184564	14518	g.chr13:86370546G>C		integral to membrane								222.184619	KEEP	27	39	-1	26	33	27	39	-1	222.27732	26	33	0.530435	1	0	0	0	0	1	0	0	0	--	--		0	C			SLITRK6_uc010afe.1_5'Flank	142	GBM-14-1034-TP	p.S33C	G	ATTGCAAAGAGAATCACAAGA	NM_032229	NP_115605	86370546	Q9H5Y7	SLIK6_HUMAN	0		GBM - Glioblastoma multiforme(99;0.0456)	2	557	-	C	C	all_neural(89;0.117)|Medulloblastoma(90;0.163)		Missense_Mutation	33			LRRNT 1.|Extracellular (Potential).			
SLITRK6	0	broad.mit.edu	GRCh37	13	86370282	86370282	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-27-2521-01	TCGA-27-2521-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400286.2:c.362A>C	p.His121Pro	p.H121P	ENST00000400286	NM_032229.2	121	cAc/cCc	0			1			G	H/P	uc001vll.1	protein_coding	YES	CCDS41903.1			362/2526									large_intestine(1)|ovary(1)|central_nervous_system(1)	3	c.(361-363)CAC>CCC			Superfamily_domains:SSF52058,SMART_domains:SM00369,Gene3D:3.80.10.10,hmmpanther:PTHR24373:SF5,hmmpanther:PTHR24373,PROSITE_profiles:PS51450	slit and trk like 6 precursor				ENSP00000383143		2-Feb									COSM3399454	2-Feb	.		ENST00000400286	Transcript	1			integral to membrane		ENSG00000184564	g.chr13:86370282T>G	23503			MODERATE		2.78	medium	getma.org/?cm=msa&ty=f&p=SLIK6_HUMAN&rb=1&re=135&var=H121P	getma.org/pdb.php?prot=SLIK6_HUMAN&from=1&to=135&var=H121P	getma.org/?cm=var&var=hg19,13,86370282,T,G&fts=all	H121P	--	--	1																																		SLITRK6_uc010afe.1_5'Flank	1	1		possibly_damaging(0.827)	p.H121P	NM_032229	NP_115605		deleterious(0.01)	1	SLIK6_HUMAN	SLITRK6	HGNC	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)			2	821	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		UPI000004C9D6	121			Extracellular (Potential).|LRR 2.		SNV	SLITRK6,missense_variant,p.His121Pro,ENST00000400286,NM_032229.2;	uc001vll.1	c.362A>C	961/4318	3	3			c.362A>C						13	SNP	c.(361-363)CAC>CCC	60	60			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Broad	slit and trk like 6 precursor			86370282		0.353	ENSG00000184564	14518	g.chr13:86370282T>G		integral to membrane								-1.674132	KEEP	6	8	-1	81	108	6	8	-1	33.580302	81	108	0.07027	1	0	0	0	0	1	0	0	0	--	--		0	G			SLITRK6_uc010afe.1_5'Flank	200	GBM-27-2521-TP	p.H121P	T	TAAAGAATTGTGATTGATATG	NM_032229	NP_115605	86370282	Q9H5Y7	SLIK6_HUMAN	0		GBM - Glioblastoma multiforme(99;0.0456)	2	821	-	G	G	all_neural(89;0.117)|Medulloblastoma(90;0.163)		Missense_Mutation	121			Extracellular (Potential).|LRR 2.			
SLK	9748	broad.mit.edu	GRCh37	10	105762134	105762134	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-2563-01	TCGA-06-2563-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369755.3:c.1198C>A	p.His400Asn	p.H400N	ENST00000369755	NM_014720.2	400	Cat/Aat	0			1			A	H/N	uc001kxo.1	protein_coding	YES	CCDS7553.1			1198/3708									ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8	c.(1198-1200)CAT>AAT			hmmpanther:PTHR24361:SF53,hmmpanther:PTHR24361	serine/threonine kinase 2				ENSP00000358770		19-Sep									COSM3396902	19-Sep	.		ENST00000369755	Transcript			apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	ENSG00000065613	g.chr10:105762134C>A	11088			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=SLK_HUMAN&rb=293&re=492&var=H400N	NA	getma.org/?cm=var&var=hg19,10,105762134,C,A&fts=all	H400N	--	--	1																																		SLK_uc001kxp.1_Missense_Mutation_p.H400N	1	1		benign(0.001)	p.H400N	NM_014720	NP_055535		tolerated(0.56)	1	SLK_HUMAN	SLK	HGNC	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)			9	1232	+		Colorectal(252;0.178)	UPI000004B6D3	400			Glu-rich.		SNV	SLK,missense_variant,p.His400Asn,ENST00000369755,NM_014720.2;SLK,missense_variant,p.His400Asn,ENST00000335753,;	uc001kxo.1	c.1198C>A	1743/7766	1	1			c.1198C>A						10	SNP	c.(1198-1200)CAT>AAT	56	56			ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8	Broad	serine/threonine kinase 2			105762134		0.388	ENSG00000065613	14519	g.chr10:105762134C>A	apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	NSCLC(111;540 1651 1927 4474 17706)		837	NSCLC(111;540 1651 1927 4474 17706)		837	-27.333973	KEEP	2	2	0.5	74	83	2	2	0.5	8.076493	74	83	0.027778	1	0	0	0	0	1	0	0	0	--	--		0	A			SLK_uc001kxp.1_Missense_Mutation_p.H400N	86	GBM-06-2563-TP	p.H400N	C	TATTAATGAACATATTACCGA	NM_014720	NP_055535	105762134	Q9H2G2	SLK_HUMAN	0		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	9	1232	+	A	A		Colorectal(252;0.178)	Missense_Mutation	400			Glu-rich.			
SLK	0	broad.mit.edu	GRCh37	10	105752828	105752828	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-27-1835-01	TCGA-27-1835-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369755.3:c.451A>G	p.Ile151Val	p.I151V	ENST00000369755	NM_014720.2	151	Atc/Gtc	0			1			G	I/V	uc001kxo.1	protein_coding	YES	CCDS7553.1			451/3708									ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8	c.(451-453)ATC>GTC			PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF53,hmmpanther:PTHR24361,PROSITE_patterns:PS00108,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	serine/threonine kinase 2				ENSP00000358770		19-Apr									COSM2157228	19-Apr	.		ENST00000369755	Transcript			apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	ENSG00000065613	g.chr10:105752828A>G	11088			MODERATE		0.495	neutral	getma.org/?cm=msa&ty=f&p=SLK_HUMAN&rb=34&re=292&var=I151V	getma.org/pdb.php?prot=SLK_HUMAN&from=34&to=292&var=I151V	getma.org/?cm=var&var=hg19,10,105752828,A,G&fts=all	I151V	--	--	1																																		SLK_uc001kxp.1_Missense_Mutation_p.I151V	1	1		possibly_damaging(0.684)	p.I151V	NM_014720	NP_055535		tolerated(0.09)	1	SLK_HUMAN	SLK	HGNC	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)			4	485	+		Colorectal(252;0.178)	UPI000004B6D3	151			Protein kinase.		SNV	SLK,missense_variant,p.Ile151Val,ENST00000369755,NM_014720.2;SLK,missense_variant,p.Ile151Val,ENST00000335753,;	uc001kxo.1	c.451A>G	996/7766	3	3			c.451A>G						10	SNP	c.(451-453)ATC>GTC	7	7			ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8	Broad	serine/threonine kinase 2			105752828		0.333	ENSG00000065613	14519	g.chr10:105752828A>G	apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	NSCLC(111;540 1651 1927 4474 17706)		837	NSCLC(111;540 1651 1927 4474 17706)		837	200.291723	KEEP	22	32	-1	11	6	22	32	-1	204.702128	11	6	0.760563	1	0	0	0	0	1	0	0	0	--	--		0	G			SLK_uc001kxp.1_Missense_Mutation_p.I151V	194	GBM-27-1835-TP	p.I151V	A	TGATAATAAGATCATCCACAG	NM_014720	NP_055535	105752828	Q9H2G2	SLK_HUMAN	0		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	4	485	+	G	G		Colorectal(252;0.178)	Missense_Mutation	151			Protein kinase.			
SLTM	79811	broad.mit.edu	GRCh37	15	59186379	59186379	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01	TCGA-06-0166-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380516.2:c.1391C>T	p.Pro464Leu	p.P464L	ENST00000380516	NM_001013843.1	464	cCc/cTc	0			1			A	P/L	uc002afp.2	protein_coding	YES	CCDS10168.2			1391/3105									ovary(1)	1	c.(1390-1392)CCC>CTC			Gene3D:3.30.70.330,hmmpanther:PTHR15683,hmmpanther:PTHR15683:SF5,Superfamily_domains:SSF54928	modulator of estrogen induced transcription				ENSP00000369887		21-Nov									COSM2150185	21-Nov	.		ENST00000380516	Transcript			apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	ENSG00000137776	g.chr15:59186379G>A	20709			MODERATE		1.88	low	getma.org/?cm=msa&ty=f&p=SLTM_HUMAN&rb=427&re=494&var=P464L	NA	getma.org/?cm=var&var=hg19,15,59186379,G,A&fts=all	P464L	--	--	1																																		SLTM_uc002afn.2_Missense_Mutation_p.P33L|SLTM_uc002afo.2_Missense_Mutation_p.P446L|SLTM_uc002afq.2_Missense_Mutation_p.P33L|SLTM_uc010bgd.2_Missense_Mutation_p.P33L	1	1		unknown(0)	p.P464L	NM_024755	NP_079031		deleterious(0)	1	SLTM_HUMAN	SLTM	HGNC	Q9NWH9	SLTM_HUMAN			H0YKH2_HUMAN,A8K5V8_HUMAN		11	1479	-			UPI0000039EA4	464					SNV	SLTM,missense_variant,p.Pro464Leu,ENST00000380516,NM_001013843.1,NM_024755.2;SLTM,missense_variant,p.Pro33Leu,ENST00000536328,;SLTM,missense_variant,p.Pro57Leu,ENST00000432750,;SLTM,missense_variant,p.Pro446Leu,ENST00000249736,;RNF111,intron_variant,,ENST00000559757,;SLTM,upstream_gene_variant,,ENST00000557791,;AC025918.2,downstream_gene_variant,,ENST00000452467,;SLTM,3_prime_UTR_variant,,ENST00000492526,;SLTM,3_prime_UTR_variant,,ENST00000557924,;SLTM,3_prime_UTR_variant,,ENST00000558756,;SLTM,non_coding_transcript_exon_variant,,ENST00000497088,;SLTM,downstream_gene_variant,,ENST00000480144,;SLTM,downstream_gene_variant,,ENST00000473359,;SLTM,upstream_gene_variant,,ENST00000558734,;SLTM,downstream_gene_variant,,ENST00000559305,;	uc002afp.2	c.1391C>T	1479/4147	2	2			c.1391C>T						15	SNP	c.(1390-1392)CCC>CTC	41	41			ovary(1)	1	Broad	modulator of estrogen induced transcription			59186379		0.318	ENSG00000137776	14525	g.chr15:59186379G>A	apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding							30.402938	KEEP	2	9	-1	24	14	2	9	-1	33.080068	24	14	0.244444	1	0	0	0	0	1	0	0	0	--	--		0	A			SLTM_uc002afn.2_Missense_Mutation_p.P33L|SLTM_uc002afo.2_Missense_Mutation_p.P446L|SLTM_uc002afq.2_Missense_Mutation_p.P33L|SLTM_uc010bgd.2_Missense_Mutation_p.P33L	31	GBM-06-0166-TP	p.P464L	G	TTTCTTAGAGGGATCACCTTT	NM_024755	NP_079031	59186379	Q9NWH9	SLTM_HUMAN	0			11	1479	-	A	A			Missense_Mutation	464						
SLTM	79811	broad.mit.edu	GRCh37	15	59181723	59181723	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-6388-01	TCGA-06-6388-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380516.2:c.2110C>G	p.Arg704Gly	p.R704G	ENST00000380516	NM_001013843.1	704	Cga/Gga	0			1			C	R/G	uc002afp.2	protein_coding	YES	CCDS10168.2			2110/3105									ovary(1)	1	c.(2110-2112)CGA>GGA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15683,hmmpanther:PTHR15683:SF5,Low_complexity_(Seg):seg	modulator of estrogen induced transcription				ENSP00000369887		16/21									COSM3401849	16/21	.		ENST00000380516	Transcript			apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	ENSG00000137776	g.chr15:59181723G>C	20709			MODERATE		2.095	medium	getma.org/?cm=msa&ty=f&p=SLTM_HUMAN&rb=646&re=1032&var=R704G	NA	getma.org/?cm=var&var=hg19,15,59181723,G,C&fts=all	R704G	--	--	1																																		SLTM_uc002afn.2_Missense_Mutation_p.R246G|SLTM_uc002afo.2_Missense_Mutation_p.R686G|SLTM_uc002afq.2_Missense_Mutation_p.R273G|SLTM_uc010bgd.2_Missense_Mutation_p.R273G	1	1		unknown(0)	p.R704G	NM_024755	NP_079031		deleterious(0)	1	SLTM_HUMAN	SLTM	HGNC	Q9NWH9	SLTM_HUMAN			H0YKH2_HUMAN,A8K5V8_HUMAN		16	2198	-			UPI0000039EA4	704			Arg/Glu-rich.|Potential.		SNV	SLTM,missense_variant,p.Arg704Gly,ENST00000380516,NM_001013843.1,NM_024755.2;SLTM,missense_variant,p.Arg273Gly,ENST00000536328,;SLTM,missense_variant,p.Arg270Gly,ENST00000432750,;RNF111,intron_variant,,ENST00000559757,;SLTM,downstream_gene_variant,,ENST00000249736,;SLTM,upstream_gene_variant,,ENST00000560494,;SLTM,upstream_gene_variant,,ENST00000557791,;AC025918.2,upstream_gene_variant,,ENST00000452467,;SLTM,3_prime_UTR_variant,,ENST00000492526,;SLTM,3_prime_UTR_variant,,ENST00000557924,;SLTM,non_coding_transcript_exon_variant,,ENST00000558734,;SLTM,upstream_gene_variant,,ENST00000493062,;SLTM,downstream_gene_variant,,ENST00000558756,;SLTM,upstream_gene_variant,,ENST00000558052,;SLTM,downstream_gene_variant,,ENST00000497088,;SLTM,downstream_gene_variant,,ENST00000473359,;SLTM,upstream_gene_variant,,ENST00000560695,;SLTM,downstream_gene_variant,,ENST00000559305,;	uc002afp.2	c.2110C>G	2198/4147	3	3			c.2110C>G						15	SNP	c.(2110-2112)CGA>GGA	58	58			ovary(1)	1	Broad	modulator of estrogen induced transcription			59181723		0.413	ENSG00000137776	14525	g.chr15:59181723G>C	apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding							45.338134	KEEP	5	11	-1	14	18	5	11	-1	46.370293	14	18	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	C			SLTM_uc002afn.2_Missense_Mutation_p.R246G|SLTM_uc002afo.2_Missense_Mutation_p.R686G|SLTM_uc002afq.2_Missense_Mutation_p.R273G|SLTM_uc010bgd.2_Missense_Mutation_p.R273G	104	GBM-06-6388-TP	p.R704G	G	TCTCTTTCTCGAGCAATCCGT	NM_024755	NP_079031	59181723	Q9NWH9	SLTM_HUMAN	0			16	2198	-	C	C			Missense_Mutation	704			Arg/Glu-rich.|Potential.			
SLU7	0	broad.mit.edu	GRCh37	5	159842130	159842130	+	splice_donor_variant	Splice_Site	DEL	A	A	-			TCGA-76-4929-01	TCGA-76-4929-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297151.4:c.170+2delT		p.X57_splice	ENST00000297151	NM_006425.4			0			1			-		uc003lyg.2	protein_coding	YES	CCDS4352.1			170/1761									ovary(1)	1	c.e2+1				step II splicing factor SLU7				ENSP00000297151													.		ENST00000297151	Transcript			alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding	ENSG00000164609	g.chr5:159842130delA	16939			HIGH	15-Feb							--	--	1																																		SLU7_uc003lyh.1_Splice_Site_p.K57_splice|SLU7_uc003lyi.1_Splice_Site_p.K57_splice		1			p.K57_splice	NM_006425	NP_006416				SLU7_HUMAN	SLU7	HGNC	O95391	SLU7_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		E5RK41_HUMAN,E5RGM7_HUMAN		2	325	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	UPI000013E3CE						deletion	SLU7,splice_donor_variant,,ENST00000297151,NM_006425.4;SLU7,splice_donor_variant,,ENST00000520664,;SLU7,splice_donor_variant,,ENST00000519349,;SLU7,splice_donor_variant,,ENST00000521826,;SLU7,splice_donor_variant,,ENST00000518268,;SLU7,splice_donor_variant,,ENST00000521190,;	uc003lyg.2	c.170_splice	-/3793	5	5			c.170_splice						5	DEL	c.e2+1	14	14			ovary(1)	1	Broad	step II splicing factor SLU7			159842130		0.358	ENSG00000164609	14526	g.chr5:159842130delA	alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding																				0.27	1	1	0	1	0	0	0	0	1	--	--		0	-			SLU7_uc003lyh.1_Splice_Site_p.K57_splice|SLU7_uc003lyi.1_Splice_Site_p.K57_splice	269	GBM-76-4929-TP	p.K57_splice	A	TTAAGTACTTACTTTCCTTCT	NM_006425	NP_006416	159842130	O95391	SLU7_HUMAN	0	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	325	-	-	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Splice_Site							
SLURP1	57152	broad.mit.edu	GRCh37	8	143823793	143823793	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0190-01	TCGA-06-0190-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000246515.1:c.11G>A	p.Arg4His	p.R4H	ENST00000246515	NM_020427.2	4	cGc/cAc	0	T:0.0005		1			T	R/H	uc003ywy.2	protein_coding	YES	CCDS6387.1			11/312										0	c.(10-12)CGC>CAC			Cleavage_site_(Signalp):SignalP-noTM,PROSITE_profiles:PS51257,hmmpanther:PTHR10036:SF4,hmmpanther:PTHR10036	ARS component B precursor			T:0	ENSP00000246515		3-Jan	2.47E-05	0.000302							rs377400398,COSM3412797	3-Jan	.		ENST00000246515	Transcript	1		cell activation|cell adhesion	extracellular space	cytokine activity	ENSG00000126233	g.chr8:143823793C>T	18746			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=SLUR1_HUMAN&rb=1&re=54&var=R4H	NA	getma.org/?cm=var&var=hg19,8,143823793,C,T&fts=all	R4H	--	--	1																																			0,1	1		benign(0.001)	p.R4H	NM_020427	NP_065160		tolerated(0.39)	0,1	SLUR1_HUMAN	SLURP1	HGNC	P55000	SLUR1_HUMAN					1	37	-	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		UPI000011D637	4					SNV	SLURP1,missense_variant,p.Arg4His,ENST00000246515,NM_020427.2;	uc003ywy.2	c.11G>A	37/537	2	2			c.11G>A						8	SNP	c.(10-12)CGC>CAC	28	28				0	Broad	ARS component B precursor			143823793		0.642	ENSG00000126233	14527	g.chr8:143823793C>T	cell activation|cell adhesion	extracellular space	cytokine activity							21.055017	KEEP	5	8	-1	20	26	5	8	-1	24.817434	20	26	0.2	1	0	0	0	0	1	0	0	0	--	--		0	T				43	GBM-06-0190-TP	p.R4H	C	CACAGCCCAGCGAGAGGCCAT	NM_020427	NP_065160	143823793	P55000	SLUR1_HUMAN	0			1	37	-	T	T	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	4						
SLX4	84464	broad.mit.edu	GRCh37	16	3642834	3642834	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0122-01	TCGA-06-0122-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294008.3:c.2193C>T	p.Asp731=	p.D731=	ENST00000294008	NM_032444.2	731	gaC/gaT	0		A:0.0008	1	A:0		A	D	uc002cvp.2	protein_coding	YES	CCDS10506.2			2193/5505										0	c.(2191-2193)GAC>GAT		Direct_reversal_of_damage|Homologous_recombination	PROSITE_profiles:PS50097,hmmpanther:PTHR21541,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695	BTB (POZ) domain containing 12		A:0		ENSP00000294008	A:0	15-Nov	4.94E-05	9.95E-05				4.61E-05		0.000123	rs551541558,COSM1246293	15-Nov	.	Fanconi_Anemia	ENST00000294008	Transcript	1	A:0.0002	DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	ENSG00000188827	g.chr16:3642834G>A	23845			LOW								--	--	1																																			0,1	1			p.D731D	NM_032444	NP_115820	A:0		0,1	SLX4_HUMAN	SLX4	HGNC	Q8IY92	SLX4_HUMAN					11	2820	-			UPI000050D2C5	731			BTB.|Interaction with PLK1 and TERF2-TERF2IP.		SNV	SLX4,synonymous_variant,p.=,ENST00000294008,NM_032444.2;SLX4,downstream_gene_variant,,ENST00000466154,;	uc002cvp.2	c.2193C>T	2834/7307	2	2			c.2193C>T						16	SNP	c.(2191-2193)GAC>GAT	24	24				0	Broad	BTB (POZ) domain containing 12	Direct_reversal_of_damage|Homologous_recombination		3642834	Fanconi_Anemia	0.567	ENSG00000188827	1507	g.chr16:3642834G>A	DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding							29.614677	KEEP	6	7	-1	11	12	6	7	-1	30.305025	11	12	0.34375	1	0	0	0	0	0	0	1	0	--	--		0	A				10	GBM-06-0122-TP	p.D731D	G	TCAGAACCCCGTCCTCTACAG	NM_032444	NP_115820	3642834	Q8IY92	SLX4_HUMAN	0			11	2820	-	A	A			Silent	731			BTB.|Interaction with PLK1 and TERF2-TERF2IP.			
SLX4	84464		GRCh37	16	3658781	3658781	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000294008.3:c.185T>C	p.Val62Ala	p.V62A	ENST00000294008	NM_032444.2	62	gTg/gCg	0																																																																																																																																																																																																																																												
SLX4IP	128710		GRCh37	20	10582459	10582459	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000334534.5:c.397G>C	p.Glu133Gln	p.E133Q	ENST00000334534	NM_001009608.1	133	Gaa/Caa	0																																																																																																																																																																																																																																												
SMAD3	4088	broad.mit.edu	GRCh37	15	67457245	67457245	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0168-01	TCGA-06-0168-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327367.4:c.219C>T	p.Gly73=	p.G73=	ENST00000327367	NM_005902.3	73	ggC/ggT	0			1			T	G	uc002aqj.2	protein_coding	YES	CCDS10222.1			219/1278									large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5	c.(217-219)GGC>GGT			Superfamily_domains:0040928,SMART_domains:SM00523,Gene3D:1ozjA00,Pfam_domain:PF03165,hmmpanther:PTHR13703:SF25,hmmpanther:PTHR13703,PROSITE_profiles:PS51075	mothers against decapentaplegic homolog 3				ENSP00000332973		9-Feb									COSM3401879,COSM3401880	9-Feb	.		ENST00000327367	Transcript	1		activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	ENSG00000166949	g.chr15:67457245C>T	6769			LOW								--	--	1																																		SMAD3_uc010ujr.1_5'UTR|SMAD3_uc010ujs.1_Silent_p.G29G|SMAD3_uc010ujt.1_5'Flank	1,1	1			p.G73G	NM_005902	NP_005893			1,1	SMAD3_HUMAN	SMAD3	HGNC	P84022	SMAD3_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)	Q68DS8_HUMAN,H3BP09_HUMAN,H0YNV1_HUMAN,H0YMP2_HUMAN,H0YL71_HUMAN,H0YKE2_HUMAN		2	517	+			UPI0000023A91	73			MH1.		SNV	SMAD3,missense_variant,p.Ala55Val,ENST00000559092,;SMAD3,synonymous_variant,p.=,ENST00000327367,NM_005902.3;SMAD3,synonymous_variant,p.=,ENST00000439724,NM_001145103.1;SMAD3,5_prime_UTR_variant,,ENST00000540846,NM_001145102.1;SMAD3,5_prime_UTR_variant,,ENST00000558894,;SMAD3,5_prime_UTR_variant,,ENST00000558739,;SMAD3,5_prime_UTR_variant,,ENST00000559460,;SMAD3,5_prime_UTR_variant,,ENST00000560175,;SMAD3,upstream_gene_variant,,ENST00000537194,NM_001145104.1;SMAD3,upstream_gene_variant,,ENST00000558428,;SMAD3,upstream_gene_variant,,ENST00000558827,;SMAD3,non_coding_transcript_exon_variant,,ENST00000559937,;	uc002aqj.2	c.219C>T	529/6247	2	2			c.219C>T						15	SNP	c.(217-219)GGC>GGT	42	42			large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5	Broad	mothers against decapentaplegic homolog 3			67457245		0.612	ENSG00000166949	14530	g.chr15:67457245C>T	activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			476			476	-95.245879	KEEP	2	5	-1	238	253	2	5	-1	7.551425	238	253	0.013158	1	0	0	0	0	0	0	1	0	--	--		0	T			SMAD3_uc010ujr.1_5'UTR|SMAD3_uc010ujs.1_Silent_p.G29G|SMAD3_uc010ujt.1_5'Flank	33	GBM-06-0168-TP	p.G73G	C	CCCTGGATGGCCGGTTGCAGG	NM_005902	NP_005893	67457245	P84022	SMAD3_HUMAN	0		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)	2	517	+	T	T			Silent	73			MH1.			
SMAD7	0	broad.mit.edu	GRCh37	18	46447857	46447857	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-12-1597-01	TCGA-12-1597-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262158.2:c.1166delC	p.Pro389ArgfsTer12	p.P389Rfs*12	ENST00000262158	NM_001190821.1	389	cCg/cg	0			1			-	P/X	uc002ldg.2	protein_coding	YES	CCDS11936.1			1166/1281										0	c.(1165-1167)CCGfs			PROSITE_profiles:PS51076,hmmpanther:PTHR13703,hmmpanther:PTHR13703:SF27,Pfam_domain:PF03166,Gene3D:2.60.200.10,SMART_domains:SM00524,Superfamily_domains:SSF49879	SMAD family member 7				ENSP00000262158		4-Apr										4-Apr	.		ENST00000262158	Transcript	1		adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	ENSG00000101665	g.chr18:46447857delG	6773			HIGH								--	--	1																																		SMAD7_uc002ldf.2_Frame_Shift_Del_p.P201fs|SMAD7_uc010xde.1_Frame_Shift_Del_p.P174fs		1			p.P389fs	NM_005904	NP_005895				SMAD7_HUMAN	SMAD7	HGNC	O15105	SMAD7_HUMAN			K7EKF0_HUMAN		4	1453	-	Colorectal(1;0.0518)		UPI0000135A83	389			MH2.		deletion	SMAD7,frameshift_variant,p.Pro389ArgfsTer12,ENST00000262158,NM_001190821.1,NM_005904.3;SMAD7,frameshift_variant,p.Pro388ArgfsTer12,ENST00000589634,;SMAD7,frameshift_variant,p.Pro174ArgfsTer12,ENST00000591805,NM_001190822.1;SMAD7,downstream_gene_variant,,ENST00000586093,;SMAD7,non_coding_transcript_exon_variant,,ENST00000587336,;SMAD7,downstream_gene_variant,,ENST00000585986,;SMAD7,downstream_gene_variant,,ENST00000588190,;SMAD7,non_coding_transcript_exon_variant,,ENST00000545051,;	uc002ldg.2	c.1166delC	1453/3087	5	5			c.1166delC						18	DEL	c.(1165-1167)CCGfs	25	25				0	Broad	SMAD family member 7			46447857		0.582	ENSG00000101665	14534	g.chr18:46447857delG	adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			78			78														0.37	1	1	0	1	0	0	0	0	0	--	--		0	-			SMAD7_uc002ldf.2_Frame_Shift_Del_p.P201fs|SMAD7_uc010xde.1_Frame_Shift_Del_p.P174fs	124	GBM-12-1597-TP	p.P389fs	G	GCCCGTCCACGGCTGCTGCAT	NM_005904	NP_005895	46447857	O15105	SMAD7_HUMAN	0			4	1453	-	-	-	Colorectal(1;0.0518)		Frame_Shift_Del	389			MH2.			
SMAGP	57228	broad.mit.edu	GRCh37	12	51663060	51663060	+	start_lost	Translation_Start_Site	SNP	C	C	G			TCGA-06-0168-01	TCGA-06-0168-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000603798.1:c.3G>C	p.Met1?	p.M1?	ENST00000603798	NM_001031628.1	1	atG/atC	0			1			G	M/I	uc001ryc.1	protein_coding		CCDS44889.1			3/294										0	c.(1-3)ATG>ATC				small trans-membrane and glycosylated protein				ENSP00000381471		4-Feb									COSM2150227,COSM2150226	4-Feb	.		ENST00000398453	Transcript				cytoplasmic vesicle membrane|integral to membrane|plasma membrane		ENSG00000170545	g.chr12:51663060C>G	26918			HIGH								--	--	1																																		SMAGP_uc001ryd.1_Missense_Mutation_p.M1I|SMAGP_uc001rye.1_Missense_Mutation_p.M1I|SMAGP_uc001ryf.1_RNA	1,1			probably_damaging(0.922)	p.M1I	NM_001033873	NP_001029045		deleterious_low_confidence(0.02)	1,1	SMAGP_HUMAN	SMAGP	HGNC	Q0VAQ4	SMAGP_HUMAN			S4R466_HUMAN,S4R3E1_HUMAN,Q7L5E9_HUMAN		1	674	-			UPI00001FC254	1			Extracellular (Potential).		SNV	SMAGP,start_lost,p.Met1?,ENST00000603798,NM_001031628.1;SMAGP,start_lost,p.Met1?,ENST00000603864,;SMAGP,start_lost,p.Met1?,ENST00000398453,NM_001033873.1;SMAGP,start_lost,p.Met1?,ENST00000603838,;SMAGP,start_lost,p.Met1?,ENST00000605426,;SMAGP,start_lost,p.Met1?,ENST00000604188,;SMAGP,5_prime_UTR_variant,,ENST00000605627,;DAZAP2,intron_variant,,ENST00000604900,;SMAGP,start_lost,p.Met1?,ENST00000380103,;	uc001ryc.1	c.3G>C	181/1062	3	3			c.3G>C						12	SNP	c.(1-3)ATG>ATC	2	2				0	Broad	small trans-membrane and glycosylated protein			51663060		0.512	ENSG00000170545	14536	g.chr12:51663060C>G		cytoplasmic vesicle membrane|integral to membrane|plasma membrane								74.483341	KEEP	15	10	-1	35	38	15	10	-1	77.57711	35	38	0.291139	1	0	0	0	0	1	0	0	0	--	--		0	G			SMAGP_uc001ryd.1_Missense_Mutation_p.M1I|SMAGP_uc001rye.1_Missense_Mutation_p.M1I|SMAGP_uc001ryf.1_RNA	33	GBM-06-0168-TP	p.M1I	C	GGAGGCTGGTCATTGTCACTA	NM_001033873	NP_001029045	51663060	Q0VAQ4	SMAGP_HUMAN	0			1	674	-	G	G			Missense_Mutation	1			Extracellular (Potential).			
SMARCA1	6594	broad.mit.edu	GRCh37	X	128657225	128657225	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2563-01	TCGA-06-2563-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371122.4:c.123C>T	p.Ala41=	p.A41=	ENST00000371122	NM_003069.3	41	gcC/gcT	0			1			A	A	uc004eun.3	protein_coding	YES	CCDS14612.1			123/3165									ovary(3)|skin(1)	4	c.(121-123)GCC>GCT			Low_complexity_(Seg):seg,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF602	SWI/SNF-related matrix-associated				ENSP00000360163		25-Jan									COSM2152834	25-Jan	.		ENST00000371122	Transcript			ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	ENSG00000102038	g.chrX:128657225G>A	11097			LOW								--	--	1																																		SMARCA1_uc004eup.3_Silent_p.A41A|SMARCA1_uc011muk.1_Silent_p.A41A|SMARCA1_uc011mul.1_Silent_p.A41A	1	1			p.A41A	NM_003069	NP_003060			1	SMCA1_HUMAN	SMARCA1	HGNC	P28370	SMCA1_HUMAN			F6TQG2_HUMAN		1	236	-			UPI0000161FA6	41					SNV	SMARCA1,synonymous_variant,p.=,ENST00000371122,NM_003069.3;SMARCA1,synonymous_variant,p.=,ENST00000371121,NM_139035.2;SMARCA1,synonymous_variant,p.=,ENST00000371123,;SMARCA1,upstream_gene_variant,,ENST00000478420,;	uc004eun.3	c.123C>T	253/4099	2	2			c.123C>T						23	SNP	c.(121-123)GCC>GCT	42	42			ovary(3)|skin(1)	4	Broad	SWI/SNF-related matrix-associated			128657225		0.667	ENSG00000102038	14539	g.chrX:128657225G>A	ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding							49.832483	KEEP	24	18	-1	41	47	24	18	-1	51.22214	41	47	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	A			SMARCA1_uc004eup.3_Silent_p.A41A|SMARCA1_uc011muk.1_Silent_p.A41A|SMARCA1_uc011mul.1_Silent_p.A41A	86	GBM-06-2563-TP	p.A41A	G	CGGTGGCCGCGGCGGCCGCTC	NM_003069	NP_003060	128657225	P28370	SMCA1_HUMAN	0			1	236	-	A	A			Silent	41						
SMARCA1	0	broad.mit.edu	GRCh37	X	128621040	128621040	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-12-3653-01	TCGA-12-3653-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371122.4:c.2172A>C	p.Gln724His	p.Q724H	ENST00000371122	NM_003069.3	724	caA/caC	0			1			G	Q/H	uc004eun.3	protein_coding	YES	CCDS14612.1			2172/3165									ovary(3)|skin(1)	4	c.(2170-2172)CAA>CAC			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF602	SWI/SNF-related matrix-associated				ENSP00000360163		17/25									COSM3405946	17/25	.		ENST00000371122	Transcript			ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	ENSG00000102038	g.chrX:128621040T>G	11097			MODERATE		-0.895	neutral	getma.org/?cm=msa&ty=f&p=SMCA1_HUMAN&rb=613&re=757&var=Q724H	NA	getma.org/?cm=var&var=hg19,X,128621040,T,G&fts=all	Q724H	--	--	1																																		SMARCA1_uc004eup.3_Missense_Mutation_p.Q712H|SMARCA1_uc011muk.1_Missense_Mutation_p.Q724H|SMARCA1_uc011mul.1_Missense_Mutation_p.Q712H	1	1		benign(0.163)	p.Q724H	NM_003069	NP_003060		tolerated(0.06)	1	SMCA1_HUMAN	SMARCA1	HGNC	P28370	SMCA1_HUMAN			F6TQG2_HUMAN		17	2285	-			UPI0000161FA6	724					SNV	SMARCA1,missense_variant,p.Gln724His,ENST00000371122,NM_003069.3;SMARCA1,missense_variant,p.Gln712His,ENST00000371121,NM_139035.2;SMARCA1,missense_variant,p.Gln712His,ENST00000371123,;	uc004eun.3	c.2172A>C	2302/4099	3	3			c.2172A>C						23	SNP	c.(2170-2172)CAA>CAC	61	61			ovary(3)|skin(1)	4	Broad	SWI/SNF-related matrix-associated			128621040		0.348	ENSG00000102038	14539	g.chrX:128621040T>G	ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding							71.348241	KEEP	13	9	-1	24	30	13	9	-1	73.996213	24	30	0.295775	1	0	0	0	0	1	0	0	0	--	--		0	G			SMARCA1_uc004eup.3_Missense_Mutation_p.Q712H|SMARCA1_uc011muk.1_Missense_Mutation_p.Q724H|SMARCA1_uc011mul.1_Missense_Mutation_p.Q712H	128	GBM-12-3653-TP	p.Q724H	T	TGTATAAACTTTGTTCAATGT	NM_003069	NP_003060	128621040	P28370	SMCA1_HUMAN	0			17	2285	-	G	G			Missense_Mutation	724						
SMARCA2	6595	broad.mit.edu	GRCh37	9	2039586	2039586	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01	TCGA-06-0124-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382203.1:c.476G>A	p.Gly159Asp	p.G159D	ENST00000382203		159	gGt/gAt	0			1			A	G/D	uc003zhc.2	protein_coding		CCDS34977.1			476/4773									ovary(2)|central_nervous_system(1)	3	c.(475-477)GGT>GAT			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF541	SWI/SNF-related matrix-associated				ENSP00000265773		Apr-34									COSM2149273,COSM2149272	Apr-34	.		ENST00000349721	Transcript	1		chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	ENSG00000080503	g.chr9:2039586G>A	11098			MODERATE		1.24	low	getma.org/?cm=msa&ty=f&p=SMCA2_HUMAN&rb=1&re=171&var=G159D	NA	getma.org/?cm=var&var=hg19,9,2039586,G,A&fts=all	G159D	--	--	1																																		SMARCA2_uc003zhd.2_Missense_Mutation_p.G159D|SMARCA2_uc010mha.2_Missense_Mutation_p.G150D	1,1			probably_damaging(0.996)	p.G159D	NM_003070	NP_003061			1,1	SMCA2_HUMAN	SMARCA2	HGNC	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	Q6LC24_HUMAN,Q56A76_HUMAN,F6XDY1_HUMAN,F6VDE0_HUMAN,F6RS74_HUMAN,F6QYQ1_HUMAN,B1ALG5_HUMAN,B1ALG2_HUMAN		4	575	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	UPI00001AE8EB	159					SNV	SMARCA2,missense_variant,p.Gly159Asp,ENST00000382203,;SMARCA2,missense_variant,p.Gly159Asp,ENST00000349721,NM_003070.3;SMARCA2,missense_variant,p.Gly159Asp,ENST00000357248,NM_139045.2;SMARCA2,missense_variant,p.Gly159Asp,ENST00000382194,;SMARCA2,missense_variant,p.Gly159Asp,ENST00000450198,;SMARCA2,downstream_gene_variant,,ENST00000439732,;RP11-264I13.2,downstream_gene_variant,,ENST00000426860,;SMARCA2,non_coding_transcript_exon_variant,,ENST00000491574,;	uc003zhc.2	c.476G>A	575/5757	2	2			c.476G>A						9	SNP	c.(475-477)GGT>GAT	44	44			ovary(2)|central_nervous_system(1)	3	Broad	SWI/SNF-related matrix-associated			2039586		0.582	ENSG00000080503	14540	g.chr9:2039586G>A	chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding							86.928834	KEEP	20	20	-1	32	43	20	20	-1	88.559528	32	43	0.355556	1	0	0	0	0	1	0	0	0	--	--		0	A			SMARCA2_uc003zhd.2_Missense_Mutation_p.G159D|SMARCA2_uc010mha.2_Missense_Mutation_p.G150D	11	GBM-06-0124-TP	p.G159D	G	CTCATCCCAGGTGATCCGCAG	NM_003070	NP_003061	2039586	P51531	SMCA2_HUMAN	0		GBM - Glioblastoma multiforme(50;0.0475)	4	575	+	A	A		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	Missense_Mutation	159						
SMARCA2	6595	broad.mit.edu	GRCh37	9	2104169	2104169	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01	TCGA-06-0649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382203.1:c.3292G>A	p.Gly1098Ser	p.G1098S	ENST00000382203		1098	Ggc/Agc	0			1			A	G/S	uc003zhc.2	protein_coding		CCDS34977.1			3292/4773									ovary(2)|central_nervous_system(1)	3	c.(3292-3294)GGC>AGC			Gene3D:3.40.50.300,Pfam_domain:PF00271,PROSITE_profiles:PS51194,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF541,SMART_domains:SM00490,Superfamily_domains:SSF52540	SWI/SNF-related matrix-associated				ENSP00000265773		23/34									COSM2151451,COSM2151450	23/34	.		ENST00000349721	Transcript	1		chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	ENSG00000080503	g.chr9:2104169G>A	11098			MODERATE		4.335	high	getma.org/?cm=msa&ty=f&p=SMCA2_HUMAN&rb=1084&re=1164&var=G1098S	getma.org/pdb.php?prot=SMCA2_HUMAN&from=1084&to=1164&var=G1098S	getma.org/?cm=var&var=hg19,9,2104169,G,A&fts=all	G1098S	--	--	1																																		SMARCA2_uc003zhd.2_Missense_Mutation_p.G1098S|SMARCA2_uc010mha.2_Missense_Mutation_p.G1031S	1,1			probably_damaging(0.959)	p.G1098S	NM_003070	NP_003061			1,1	SMCA2_HUMAN	SMARCA2	HGNC	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	Q6LC24_HUMAN,Q56A76_HUMAN,F6XDY1_HUMAN,F6VDE0_HUMAN,F6RS74_HUMAN,F6QYQ1_HUMAN,B1ALG5_HUMAN,B1ALG2_HUMAN		23	3391	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	UPI00001AE8EB	1098			Helicase C-terminal.		SNV	SMARCA2,missense_variant,p.Gly1098Ser,ENST00000382203,;SMARCA2,missense_variant,p.Gly1098Ser,ENST00000349721,NM_003070.3;SMARCA2,missense_variant,p.Gly1098Ser,ENST00000357248,NM_139045.2;SMARCA2,missense_variant,p.Gly1098Ser,ENST00000382194,;	uc003zhc.2	c.3292G>A	3391/5757	1	1			c.3292G>A						9	SNP	c.(3292-3294)GGC>AGC	56	56			ovary(2)|central_nervous_system(1)	3	Broad	SWI/SNF-related matrix-associated			2104169		0.438	ENSG00000080503	14540	g.chr9:2104169G>A	chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding							76.724385	KEEP	21	14	-1	21	28	21	14	-1	77.548424	21	28	0.38961	1	0	0	0	0	1	0	0	0	--	--		0	A			SMARCA2_uc003zhd.2_Missense_Mutation_p.G1098S|SMARCA2_uc010mha.2_Missense_Mutation_p.G1031S	62	GBM-06-0649-TP	p.G1098S	G	ACGCCTTGATGGTAAGTGCAT	NM_003070	NP_003061	2104169	P51531	SMCA2_HUMAN	0		GBM - Glioblastoma multiforme(50;0.0475)	23	3391	+	A	A		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	Missense_Mutation	1098			Helicase C-terminal.			
SMARCA2	0	broad.mit.edu	GRCh37	9	2029232	2029232	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-27-1838-01	TCGA-27-1838-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000349721.2:c.210G>C	p.Met70Ile	p.M70I	ENST00000349721	NM_003070.3	70	atG/atC	0			1			C	M/I	uc003zhc.2	protein_coding		CCDS34977.1			210/4773									ovary(2)|central_nervous_system(1)	3	c.(208-210)ATG>ATC			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF541	SWI/SNF-related matrix-associated				ENSP00000265773		Feb-34									COSM3413553,COSM3413552	Feb-34	.		ENST00000349721	Transcript	1		chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	ENSG00000080503	g.chr9:2029232G>C	11098			MODERATE		0.49	neutral	getma.org/?cm=msa&ty=f&p=SMCA2_HUMAN&rb=1&re=171&var=M70I	NA	getma.org/?cm=var&var=hg19,9,2029232,G,C&fts=all	M70I	--	--	1																																		SMARCA2_uc003zhd.2_Missense_Mutation_p.M70I|SMARCA2_uc010mha.2_Missense_Mutation_p.M61I	1,1			benign(0.003)	p.M70I	NM_003070	NP_003061			1,1	SMCA2_HUMAN	SMARCA2	HGNC	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	Q6LC24_HUMAN,Q56A76_HUMAN,F6XDY1_HUMAN,F6VDE0_HUMAN,F6RS74_HUMAN,F6QYQ1_HUMAN,B1ALG5_HUMAN,B1ALG2_HUMAN		2	309	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	UPI00001AE8EB	70					SNV	SMARCA2,missense_variant,p.Met70Ile,ENST00000382203,;SMARCA2,missense_variant,p.Met70Ile,ENST00000349721,NM_003070.3;SMARCA2,missense_variant,p.Met70Ile,ENST00000357248,NM_139045.2;SMARCA2,missense_variant,p.Met70Ile,ENST00000382194,;SMARCA2,missense_variant,p.Met70Ile,ENST00000450198,;SMARCA2,missense_variant,p.Met70Ile,ENST00000439732,;SMARCA2,downstream_gene_variant,,ENST00000457226,;SMARCA2,upstream_gene_variant,,ENST00000491574,;	uc003zhc.2	c.210G>C	309/5757	4	4			c.210G>C						9	SNP	c.(208-210)ATG>ATC	46	46			ovary(2)|central_nervous_system(1)	3	Broad	SWI/SNF-related matrix-associated			2029232		0.493	ENSG00000080503	14540	g.chr9:2029232G>C	chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding							116.659785	KEEP	13	29	-1	22	28	13	29	-1	117.19502	22	28	0.4125	1	0	0	0	0	1	0	0	0	--	--		0	C			SMARCA2_uc003zhd.2_Missense_Mutation_p.M70I|SMARCA2_uc010mha.2_Missense_Mutation_p.M61I	197	GBM-27-1838-TP	p.M70I	G	AGGAAGGCATGCATCAAATGC	NM_003070	NP_003061	2029232	P51531	SMCA2_HUMAN	0		GBM - Glioblastoma multiforme(50;0.0475)	2	309	+	C	C		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	Missense_Mutation	70						
SMARCA4	0	broad.mit.edu	GRCh37	19	11136160	11136160	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-3476-01	TCGA-14-3476-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344626.4:c.3144C>T	p.His1048=	p.H1048=	ENST00000344626	NM_003072.3	1048	caC/caT	0			1			T	H	uc002mqf.3	protein_coding		CCDS12253.1			3144/4944	F|N|Mis				NSCLC			p.?(1)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67	c.(3142-3144)CAC>CAT			Pfam_domain:PF00176,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF76,Superfamily_domains:SSF52540	SWI/SNF-related matrix-associated				ENSP00000343896		22/35	8.24E-06	9.69E-05							rs778369345,COSM3403745,COSM3403744	22/35	.	Rhabdoid_Predisposition_syndrome	ENST00000344626	Transcript	1		chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	ENSG00000127616	g.chr19:11136160C>T	11100			LOW								--	--	1																																		SMARCA4_uc010dxp.2_Silent_p.H1048H|SMARCA4_uc010dxo.2_Silent_p.H1048H|SMARCA4_uc002mqg.1_Silent_p.H1048H|SMARCA4_uc010dxq.2_Silent_p.H1048H|SMARCA4_uc010dxr.2_Silent_p.H1048H|SMARCA4_uc002mqj.3_Silent_p.H1048H|SMARCA4_uc010dxs.2_Silent_p.H1048H|SMARCA4_uc010dxt.1_Silent_p.H268H|SMARCA4_uc002mqh.3_Silent_p.H171H|SMARCA4_uc002mqi.1_Silent_p.H251H	0,1,1				p.H1048H	NM_003072	NP_003063			0,1,1	SMCA4_HUMAN	SMARCA4	HGNC	P51532	SMCA4_HUMAN			B4DSI8_HUMAN,A7E2E1_HUMAN		22	3428	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	UPI000006F973	1048					SNV	SMARCA4,synonymous_variant,p.=,ENST00000358026,NM_001128849.1;SMARCA4,synonymous_variant,p.=,ENST00000429416,NM_001128844.1;SMARCA4,synonymous_variant,p.=,ENST00000344626,NM_003072.3;SMARCA4,synonymous_variant,p.=,ENST00000413806,NM_001128845.1,NM_001128847.1;SMARCA4,synonymous_variant,p.=,ENST00000450717,NM_001128846.1,NM_001128848.1;SMARCA4,synonymous_variant,p.=,ENST00000590574,;SMARCA4,synonymous_variant,p.=,ENST00000589677,;SMARCA4,synonymous_variant,p.=,ENST00000541122,;SMARCA4,synonymous_variant,p.=,ENST00000444061,;SMARCA4,downstream_gene_variant,,ENST00000586122,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591545,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000585799,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591595,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000592604,;SMARCA4,downstream_gene_variant,,ENST00000587988,;	uc002mqf.3	c.3144C>T	3349/5392	2	2			c.3144C>T	F|N|Mis				NSCLC	19	SNP	c.(3142-3144)CAC>CAT	22	22		p.?(1)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67	Broad	SWI/SNF-related matrix-associated			11136160	Rhabdoid_Predisposition_syndrome	0.617	ENSG00000127616	14541	g.chr19:11136160C>T	chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity			582			582	69.605233	KEEP	17	18	-1	37	59	17	18	-1	75.017351	37	59	0.266055	1	0	0	0	0	0	0	1	0	--	--		0	T			SMARCA4_uc010dxp.2_Silent_p.H1048H|SMARCA4_uc010dxo.2_Silent_p.H1048H|SMARCA4_uc002mqg.1_Silent_p.H1048H|SMARCA4_uc010dxq.2_Silent_p.H1048H|SMARCA4_uc010dxr.2_Silent_p.H1048H|SMARCA4_uc002mqj.3_Silent_p.H1048H|SMARCA4_uc010dxs.2_Silent_p.H1048H|SMARCA4_uc010dxt.1_Silent_p.H268H|SMARCA4_uc002mqh.3_Silent_p.H171H|SMARCA4_uc002mqi.1_Silent_p.H251H	151	GBM-14-3476-TP	p.H1048H	C	TCTGCAACCACCCCTACATGT	NM_003072	NP_003063	11136160	P51532	SMCA4_HUMAN	0			22	3428	+	T	T		all_lung(6;0.0512)|Lung NSC(9;0.0568)	Silent	1048						
SMARCA4	0	broad.mit.edu	GRCh37	19	11132404	11132404	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5207-01	TCGA-28-5207-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344626.4:c.2620C>T	p.Arg874Cys	p.R874C	ENST00000344626	NM_003072.3	874	Cgt/Tgt	0			1			T	R/C	uc002mqf.3	protein_coding		CCDS12253.1			2620/4944	F|N|Mis				NSCLC			p.?(1)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67	c.(2620-2622)CGT>TGT			Gene3D:3.40.50.300,Pfam_domain:PF00176,PROSITE_profiles:PS51192,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF76,SMART_domains:SM00487,Superfamily_domains:SSF52540	SWI/SNF-related matrix-associated				ENSP00000343896		19/35									COSM1711829,COSM1711828	19/35	.	Rhabdoid_Predisposition_syndrome	ENST00000344626	Transcript	1		chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	ENSG00000127616	g.chr19:11132404C>T	11100			MODERATE		2.005	medium	getma.org/?cm=msa&ty=f&p=SMCA4_HUMAN&rb=757&re=1052&var=R874C	getma.org/pdb.php?prot=SMCA4_HUMAN&from=757&to=1052&var=R874C	getma.org/?cm=var&var=hg19,19,11132404,C,T&fts=all	R874C	--	--	1																																		SMARCA4_uc010dxp.2_Missense_Mutation_p.R874C|SMARCA4_uc010dxo.2_Missense_Mutation_p.R874C|SMARCA4_uc002mqg.1_Missense_Mutation_p.R874C|SMARCA4_uc010dxq.2_Missense_Mutation_p.R874C|SMARCA4_uc010dxr.2_Missense_Mutation_p.R874C|SMARCA4_uc002mqj.3_Missense_Mutation_p.R874C|SMARCA4_uc010dxs.2_Missense_Mutation_p.R874C|SMARCA4_uc010dxt.1_Missense_Mutation_p.R94C|SMARCA4_uc002mqh.3_5'UTR|SMARCA4_uc002mqi.1_Missense_Mutation_p.R77C	1,1			probably_damaging(0.99)	p.R874C	NM_003072	NP_003063			1,1	SMCA4_HUMAN	SMARCA4	HGNC	P51532	SMCA4_HUMAN			B4DSI8_HUMAN,A7E2E1_HUMAN		19	2904	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	UPI000006F973	874			Helicase ATP-binding.		SNV	SMARCA4,missense_variant,p.Arg874Cys,ENST00000358026,NM_001128849.1;SMARCA4,missense_variant,p.Arg874Cys,ENST00000429416,NM_001128844.1;SMARCA4,missense_variant,p.Arg874Cys,ENST00000344626,NM_003072.3;SMARCA4,missense_variant,p.Arg874Cys,ENST00000413806,NM_001128845.1,NM_001128847.1;SMARCA4,missense_variant,p.Arg874Cys,ENST00000450717,NM_001128846.1,NM_001128848.1;SMARCA4,missense_variant,p.Arg874Cys,ENST00000590574,;SMARCA4,missense_variant,p.Arg874Cys,ENST00000589677,;SMARCA4,missense_variant,p.Arg874Cys,ENST00000541122,;SMARCA4,missense_variant,p.Arg874Cys,ENST00000444061,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000586122,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591545,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000585799,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591595,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000592604,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000587988,;	uc002mqf.3	c.2620C>T	2825/5392	2	2			c.2620C>T	F|N|Mis				NSCLC	19	SNP	c.(2620-2622)CGT>TGT	30	30		p.?(1)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67	Broad	SWI/SNF-related matrix-associated			11132404	Rhabdoid_Predisposition_syndrome	0.632	ENSG00000127616	14541	g.chr19:11132404C>T	chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity			582			582	27.567768	KEEP	6	4	-1	11	7	6	4	-1	28.110815	11	7	0.346154	1	0	0	0	0	1	0	0	0	--	--		0	T			SMARCA4_uc010dxp.2_Missense_Mutation_p.R874C|SMARCA4_uc010dxo.2_Missense_Mutation_p.R874C|SMARCA4_uc002mqg.1_Missense_Mutation_p.R874C|SMARCA4_uc010dxq.2_Missense_Mutation_p.R874C|SMARCA4_uc010dxr.2_Missense_Mutation_p.R874C|SMARCA4_uc002mqj.3_Missense_Mutation_p.R874C|SMARCA4_uc010dxs.2_Missense_Mutation_p.R874C|SMARCA4_uc010dxt.1_Missense_Mutation_p.R94C|SMARCA4_uc002mqh.3_5'UTR|SMARCA4_uc002mqi.1_Missense_Mutation_p.R77C	216	GBM-28-5207-TP	p.R874C	C	CCCGCAGATCCGTTGGAAGTA	NM_003072	NP_003063	11132404	P51532	SMCA4_HUMAN	0			19	2904	+	T	T		all_lung(6;0.0512)|Lung NSC(9;0.0568)	Missense_Mutation	874			Helicase ATP-binding.			
SMARCA5	8467	broad.mit.edu	GRCh37	4	144474296	144474296	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283131.3:c.3118G>A	p.Ala1040Thr	p.A1040T	ENST00000283131	NM_003601.3	1040	Gca/Aca	0			1			A	A/T	uc003ijg.2	protein_coding	YES	CCDS3761.1			3118/3159									skin(1)	1	c.(3118-3120)GCA>ACA			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF575	SWI/SNF-related matrix-associated				ENSP00000283131		24/24	1.65E-05		8.78E-05			1.50E-05			rs756443687,COSM1427324	24/24	.		ENST00000283131	Transcript	1		CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	ENSG00000153147	g.chr4:144474296G>A	11101			MODERATE		-0.55	neutral	getma.org/?cm=msa&ty=f&p=SMCA5_HUMAN&rb=1014&re=1052&var=A1040T	NA	getma.org/?cm=var&var=hg19,4,144474296,G,A&fts=all	A1040T	--	--	1																																			0,1	1		benign(0.002)	p.A1040T	NM_003601	NP_003592		tolerated(1)	0,1	SMCA5_HUMAN	SMARCA5	HGNC	O60264	SMCA5_HUMAN			Q4W5H1_HUMAN,Q4W5G3_HUMAN		24	3580	+	all_hematologic(180;0.158)		UPI000006E693	1040					SNV	SMARCA5,missense_variant,p.Ala1040Thr,ENST00000283131,NM_003601.3;RP11-481K16.2,downstream_gene_variant,,ENST00000512366,;SMARCA5,downstream_gene_variant,,ENST00000508573,;RP11-481K16.2,downstream_gene_variant,,ENST00000515019,;	uc003ijg.2	c.3118G>A	3580/7923	1	1			c.3118G>A						4	SNP	c.(3118-3120)GCA>ACA	59	59			skin(1)	1	Broad	SWI/SNF-related matrix-associated			144474296		0.333	ENSG00000153147	14542	g.chr4:144474296G>A	CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding							-21.981757	KEEP	3	2	-1	72	68	3	2	-1	7.643248	72	68	0.032258	1	0	0	0	0	1	0	0	0	--	--		0	A				12	GBM-06-0125-TP	p.A1040T	G	AATGGATGGCGCACCTGATGG	NM_003601	NP_003592	144474296	O60264	SMCA5_HUMAN	0			24	3580	+	A	A	all_hematologic(180;0.158)		Missense_Mutation	1040						
SMARCAL1	0	broad.mit.edu	GRCh37	2	217285033	217285033	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-6698-01	TCGA-06-6698-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357276.4:c.874C>T	p.Gln292Ter	p.Q292*	ENST00000357276	NM_014140.3	292	Cag/Tag	0			1			T	Q/*	uc002vgc.3	protein_coding	YES	CCDS2403.1			874/2865									ovary(3)|breast(3)|skin(1)	7	c.(874-876)CAG>TAG			PROSITE_profiles:PS51467,hmmpanther:PTHR10799:SF571,hmmpanther:PTHR10799,Pfam_domain:PF07443	SWI/SNF-related matrix-associated				ENSP00000349823		18-May									COSM3407561	18-May	.	Schimke_Immuno-Osseous_Dysplasia	ENST00000357276	Transcript	1		chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	ENSG00000138375	g.chr2:217285033C>T	11102			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,217285033,C,T&fts=all	Q292*	--	--	1																																		SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Nonsense_Mutation_p.Q292*|SMARCAL1_uc010fvg.2_Nonsense_Mutation_p.Q292*	1	1			p.Q292*	NM_014140	NP_054859			1	SMAL1_HUMAN	SMARCAL1	HGNC	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	C9JP32_HUMAN,C9JHQ1_HUMAN,C9J8F8_HUMAN,C9J6I8_HUMAN		5	1204	+		Renal(323;0.0458)	UPI000000DA30	292			HARP 1.		SNV	SMARCAL1,stop_gained,p.Gln292Ter,ENST00000357276,NM_014140.3;SMARCAL1,stop_gained,p.Gln292Ter,ENST00000358207,NM_001127207.1;SMARCAL1,stop_gained,p.Gln156Ter,ENST00000392128,;SMARCAL1,stop_gained,p.Gln191Ter,ENST00000427645,;SMARCAL1,stop_gained,p.Gln12Ter,ENST00000412913,;	uc002vgc.3	c.874C>T	1204/3271	5	2			c.874C>T						2	SNP	c.(874-876)CAG>TAG	41	41			ovary(3)|breast(3)|skin(1)	7	Broad	SWI/SNF-related matrix-associated			217285033	Schimke_Immuno-Osseous_Dysplasia	0.557	ENSG00000138375	14544	g.chr2:217285033C>T	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity							82.718072	KEEP	8	18	-1	4	2	8	18	-1	86.158716	4	2	0.857143	1	0	0	0	0	0	1	0	0	--	--		0	T			SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Nonsense_Mutation_p.Q292*|SMARCAL1_uc010fvg.2_Nonsense_Mutation_p.Q292*	112	GBM-06-6698-TP	p.Q292*	C	GAAAGCAGCCCAGAGCCTCCC	NM_014140	NP_054859	217285033	Q9NZC9	SMAL1_HUMAN	0		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	5	1204	+	T	T		Renal(323;0.0458)	Nonsense_Mutation	292			HARP 1.			
SMARCAL1	0	broad.mit.edu	GRCh37	2	217329391	217329391	+	splice_donor_variant	Splice_Site	SNP	G	G	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357276.4:c.2141+1G>A		p.X714_splice	ENST00000357276	NM_014140.3			0			1			A		uc002vgc.3	protein_coding	YES	CCDS2403.1			2141/2865									ovary(3)|breast(3)|skin(1)	7	c.e13+1				SWI/SNF-related matrix-associated				ENSP00000349823											COSM3407562		.	Schimke_Immuno-Osseous_Dysplasia	ENST00000357276	Transcript	1		chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	ENSG00000138375	g.chr2:217329391G>A	11102			HIGH	13/17							--	--	1																																		SMARCAL1_uc010fvf.2_Splice_Site|SMARCAL1_uc002vgd.3_Splice_Site_p.I714_splice|SMARCAL1_uc010fvg.2_Splice_Site_p.I692_splice	1	1			p.I714_splice	NM_014140	NP_054859			1	SMAL1_HUMAN	SMARCAL1	HGNC	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	C9JP32_HUMAN,C9JHQ1_HUMAN,C9J8F8_HUMAN,C9J6I8_HUMAN		13	2471	+		Renal(323;0.0458)	UPI000000DA30						SNV	SMARCAL1,splice_donor_variant,,ENST00000357276,NM_014140.3;SMARCAL1,splice_donor_variant,,ENST00000358207,NM_001127207.1;SMARCAL1,splice_donor_variant,,ENST00000392128,;	uc002vgc.3	c.2141_splice	-/3271	5	1			c.2141_splice						2	SNP	c.e13+1	49	49			ovary(3)|breast(3)|skin(1)	7	Broad	SWI/SNF-related matrix-associated			217329391	Schimke_Immuno-Osseous_Dysplasia	0.363	ENSG00000138375	14544	g.chr2:217329391G>A	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity							227.111135	KEEP	41	42	-1	24	38	41	42	-1	227.606141	24	38	0.566929	1	0	0	0	0	0	0	0	1	--	--		0	A			SMARCAL1_uc010fvf.2_Splice_Site|SMARCAL1_uc002vgd.3_Splice_Site_p.I714_splice|SMARCAL1_uc010fvg.2_Splice_Site_p.I692_splice	159	GBM-19-1390-TP	p.I714_splice	G	CATCTGTCATGTAAGTGGTCA	NM_014140	NP_054859	217329391	Q9NZC9	SMAL1_HUMAN	0		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	13	2471	+	A	A		Renal(323;0.0458)	Splice_Site							
SMARCC1	0	broad.mit.edu	GRCh37	3	47755965	47755965	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-1442-01	TCGA-26-1442-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254480.5:c.732C>T	p.Val244=	p.V244=	ENST00000254480	NM_003074.3	244	gtC/gtT	0			1			A	V	uc003crq.2	protein_coding	YES	CCDS2758.1			732/3318									skin(2)|lung(1)	3	c.(730-732)GTC>GTT			hmmpanther:PTHR12802,hmmpanther:PTHR12802:SF9,SMART_domains:SM00298	SWI/SNF-related matrix-associated				ENSP00000254480		28-Aug									COSM3408713	28-Aug	.		ENST00000254480	Transcript			chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	ENSG00000173473	g.chr3:47755965G>A	11104			LOW								--	--	1																																		SMARCC1_uc011bbd.1_Silent_p.V135V	1	1			p.V244V	NM_003074	NP_003065			1	SMRC1_HUMAN	SMARCC1	HGNC	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	F8WE13_HUMAN		8	850	-			UPI000013CE3B	244					SNV	SMARCC1,synonymous_variant,p.=,ENST00000254480,NM_003074.3;SMARCC1,non_coding_transcript_exon_variant,,ENST00000425518,;	uc003crq.2	c.732C>T	852/6375	2	2			c.732C>T						3	SNP	c.(730-732)GTC>GTT	18	18			skin(2)|lung(1)	3	Broad	SWI/SNF-related matrix-associated			47755965		0.274	ENSG00000173473	14546	g.chr3:47755965G>A	chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity							7.97837	KEEP	5	4	-1	34	36	5	4	-1	16.656121	34	36	0.116667	1	0	0	0	0	0	0	1	0	--	--		0	A			SMARCC1_uc011bbd.1_Silent_p.V135V	180	GBM-26-1442-TP	p.V244V	G	CATTACTATGGACCCAAGTAT	NM_003074	NP_003065	47755965	Q92922	SMRC1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	8	850	-	A	A			Silent	244						
SMARCC2	6601	broad.mit.edu	GRCh37	12	56563342	56563342	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0192-01	TCGA-06-0192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267064.4:c.2593G>A	p.Ala865Thr	p.A865T	ENST00000267064	NM_003075.3	865	Gcc/Acc	0			1			T	A/T	uc001skb.2	protein_coding	YES	CCDS8907.1			2593/3645									lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6	c.(2593-2595)GCC>ACC			hmmpanther:PTHR12802,hmmpanther:PTHR12802:SF38,Low_complexity_(Seg):seg	SWI/SNF-related matrix-associated				ENSP00000267064		24/28									COSM3398890,COSM3398889,COSM3398891	24/28	.		ENST00000267064	Transcript			chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	ENSG00000139613	g.chr12:56563342C>T	11105			MODERATE		1.74	low	getma.org/?cm=msa&ty=f&p=SMRC2_HUMAN&rb=844&re=1043&var=A865T	NA	getma.org/?cm=var&var=hg19,12,56563342,C,T&fts=all	A865T	--	--	1																																		SMARCC2_uc001skd.2_Missense_Mutation_p.A896T|SMARCC2_uc001ska.2_Missense_Mutation_p.A896T|SMARCC2_uc001skc.2_Missense_Mutation_p.A895T|SMARCC2_uc010sqf.1_Missense_Mutation_p.A785T	1,1,1	1		possibly_damaging(0.499)	p.A865T	NM_003075	NP_003066		deleterious(0)	1,1,1	SMRC2_HUMAN	SMARCC2	HGNC	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		F8VZW6_HUMAN		24	2699	-			UPI0000071C4E	865			Poly-Ala.		SNV	SMARCC2,missense_variant,p.Ala896Thr,ENST00000394023,NM_001130420.1;SMARCC2,missense_variant,p.Ala896Thr,ENST00000550164,;SMARCC2,missense_variant,p.Ala865Thr,ENST00000267064,NM_003075.3;SMARCC2,missense_variant,p.Ala896Thr,ENST00000347471,NM_139067.2;RP11-977G19.5,intron_variant,,ENST00000553176,;SMARCC2,downstream_gene_variant,,ENST00000549209,;SMARCC2,3_prime_UTR_variant,,ENST00000552674,;SMARCC2,downstream_gene_variant,,ENST00000548130,;SMARCC2,downstream_gene_variant,,ENST00000552931,;SMARCC2,downstream_gene_variant,,ENST00000552566,;	uc001skb.2	c.2593G>A	2680/4076	2	2			c.2593G>A						12	SNP	c.(2593-2595)GCC>ACC	42	42			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6	Broad	SWI/SNF-related matrix-associated			56563342		0.244	ENSG00000139613	14547	g.chr12:56563342C>T	chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity							2.526269	KEEP	6	3	-1	58	27	6	3	-1	14.949473	58	27	0.093333	1	0	0	0	0	1	0	0	0	--	--		0	T			SMARCC2_uc001skd.2_Missense_Mutation_p.A896T|SMARCC2_uc001ska.2_Missense_Mutation_p.A896T|SMARCC2_uc001skc.2_Missense_Mutation_p.A895T|SMARCC2_uc010sqf.1_Missense_Mutation_p.A785T	44	GBM-06-0192-TP	p.A865T	C	gcggccagggcggcggcagca	NM_003075	NP_003066	56563342	Q8TAQ2	SMRC2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(18;0.123)		24	2699	-	T	T			Missense_Mutation	865			Poly-Ala.			
SMARCD1	0	broad.mit.edu	GRCh37	12	50484023	50484023	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A			TCGA-41-3393-01	TCGA-41-3393-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394963.4:c.874-1G>A		p.X292_splice	ENST00000394963	NM_003076.4			0			1			A		uc001rvx.3	protein_coding	YES	CCDS8797.2			874/1548									ovary(1)	1	c.e8-1				SWI/SNF-related matrix-associated				ENSP00000378414											COSM3398791		.		ENST00000394963	Transcript			chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity	ENSG00000066117	g.chr12:50484023G>A	11106			HIGH	12-Jul							--	--	1																																		SMARCD1_uc001rvy.3_Splice_Site_p.P292_splice|SMARCD1_uc009zlp.2_Splice_Site_p.P251_splice	1	1			p.P292_splice	NM_003076	NP_003067			1	SMRD1_HUMAN	SMARCD1	HGNC	Q96GM5	SMRD1_HUMAN			F8VW95_HUMAN		8	1044	+			UPI00001A92EC						SNV	SMARCD1,splice_acceptor_variant,,ENST00000394963,NM_003076.4;SMARCD1,splice_acceptor_variant,,ENST00000381513,NM_139071.2;SMARCD1,splice_acceptor_variant,,ENST00000548573,;SMARCD1,splice_acceptor_variant,,ENST00000550477,;SMARCD1,splice_acceptor_variant,,ENST00000551966,;SMARCD1,downstream_gene_variant,,ENST00000551497,;SMARCD1,downstream_gene_variant,,ENST00000547247,;SMARCD1,upstream_gene_variant,,ENST00000549274,;SMARCD1,downstream_gene_variant,,ENST00000547637,;	uc001rvx.3	c.874_splice	-/3658	5	1			c.874_splice						12	SNP	c.e8-1	62	62			ovary(1)	1	Broad	SWI/SNF-related matrix-associated			50484023		0.458	ENSG00000066117	14548	g.chr12:50484023G>A	chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity							176.319875	KEEP	23	49	-1	83	99	23	49	-1	184.558101	83	99	0.297778	1	0	0	0	0	0	0	0	1	--	--		0	A			SMARCD1_uc001rvy.3_Splice_Site_p.P292_splice|SMARCD1_uc009zlp.2_Splice_Site_p.P251_splice	255	GBM-41-3393-TP	p.P292_splice	G	GTTCCCTGCAGCCTCCCCAGT	NM_003076	NP_003067	50484023	Q96GM5	SMRD1_HUMAN	0			8	1044	+	A	A			Splice_Site							
SMARCD2	6603	broad.mit.edu	GRCh37	17	61912798	61912798	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0686-01	TCGA-06-0686-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000448276.2:c.697C>T	p.Arg233Ter	p.R233*	ENST00000448276	NM_001098426.1	233	Cga/Tga	0			1			A	R/*	uc010deb.1	protein_coding	YES	CCDS45756.1			697/1596										0	c.(697-699)CGA>TGA			hmmpanther:PTHR13844,hmmpanther:PTHR13844:SF2	SWI/SNF-related matrix-associated				ENSP00000392617		13-May									COSM2151577	13-May	.		ENST00000448276	Transcript			chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity	ENSG00000108604	g.chr17:61912798G>A	11107			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,17,61912798,G,A&fts=all	R233*	--	--	1																																		SMARCD2_uc010wpt.1_Nonsense_Mutation_p.R185*|SMARCD2_uc010dea.1_Nonsense_Mutation_p.R158*|SMARCD2_uc010dec.1_Nonsense_Mutation_p.R212*	1	1			p.R233*	NM_001098426	NP_001091896			1	SMRD2_HUMAN	SMARCD2	HGNC	Q92925	SMRD2_HUMAN			J3KT18_HUMAN,J3KMX2_HUMAN		5	1014	-			UPI0000D695F8	233					SNV	SMARCD2,stop_gained,p.Arg233Ter,ENST00000448276,NM_001098426.1;SMARCD2,stop_gained,p.Arg185Ter,ENST00000323347,;SMARCD2,stop_gained,p.Arg158Ter,ENST00000225742,;PSMC5,downstream_gene_variant,,ENST00000310144,NM_002805.5;PSMC5,downstream_gene_variant,,ENST00000580864,;PSMC5,downstream_gene_variant,,ENST00000581882,;PSMC5,downstream_gene_variant,,ENST00000375812,NM_001199163.1;SMARCD2,upstream_gene_variant,,ENST00000450364,;PSMC5,downstream_gene_variant,,ENST00000585123,;PSMC5,downstream_gene_variant,,ENST00000582130,;PSMC5,downstream_gene_variant,,ENST00000581842,;PSMC5,downstream_gene_variant,,ENST00000584320,;PSMC5,downstream_gene_variant,,ENST00000579708,;RN7SL805P,upstream_gene_variant,,ENST00000581353,;SMARCD2,3_prime_UTR_variant,,ENST00000584400,;SMARCD2,non_coding_transcript_exon_variant,,ENST00000578234,;PSMC5,downstream_gene_variant,,ENST00000579147,;PSMC5,downstream_gene_variant,,ENST00000581764,;PSMC5,downstream_gene_variant,,ENST00000578570,;PSMC5,downstream_gene_variant,,ENST00000585242,;SMARCD2,upstream_gene_variant,,ENST00000584483,;PSMC5,downstream_gene_variant,,ENST00000584536,;PSMC5,downstream_gene_variant,,ENST00000579031,;PSMC5,downstream_gene_variant,,ENST00000584880,;PSMC5,downstream_gene_variant,,ENST00000584657,;SMARCD2,upstream_gene_variant,,ENST00000581832,;PSMC5,downstream_gene_variant,,ENST00000580063,;SMARCD2,downstream_gene_variant,,ENST00000580054,;SMARCD2,downstream_gene_variant,,ENST00000577686,;	uc010deb.1	c.697C>T	963/2716	5	2			c.697C>T						17	SNP	c.(697-699)CGA>TGA	17	17				0	Broad	SWI/SNF-related matrix-associated			61912798		0.527	ENSG00000108604	14549	g.chr17:61912798G>A	chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity							86.55924	KEEP	19	13	-1	32	18	19	13	-1	87.493059	32	18	0.381579	1	0	0	0	0	0	1	0	0	--	--		0	A			SMARCD2_uc010wpt.1_Nonsense_Mutation_p.R185*|SMARCD2_uc010dea.1_Nonsense_Mutation_p.R158*|SMARCD2_uc010dec.1_Nonsense_Mutation_p.R212*	64	GBM-06-0686-TP	p.R233*	G	CCTTCCACTCGGAGTTCCCAG	NM_001098426	NP_001091896	61912798	Q92925	SMRD2_HUMAN	0			5	1014	-	A	A			Nonsense_Mutation	233						
SMC1A	0	broad.mit.edu	GRCh37	X	53439144	53439144	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322213.4:c.914C>A	p.Thr305Asn	p.T305N	ENST00000322213	NM_001281463.1	305	aCc/aAc	0			1			T	T/N	uc004dsg.2	protein_coding	YES	CCDS14352.1			914/3702									ovary(5)|central_nervous_system(1)	6	c.(913-915)ACC>AAC			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF02463,PIRSF_domain:PIRSF005719,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF170	structural maintenance of chromosomes 1A				ENSP00000323421		25-Jun									COSM3406472	25-Jun	.		ENST00000322213	Transcript	1		cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	ENSG00000072501	g.chrX:53439144G>T	11111			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=SMC1A_HUMAN&rb=3&re=1212&var=T305N	NA	getma.org/?cm=var&var=hg19,X,53439144,G,T&fts=all	T305N	--	--	1																																		SMC1A_uc011moe.1_Missense_Mutation_p.T283N|SMC1A_uc011mof.1_Intron	1	1		possibly_damaging(0.632)	p.T305N	NM_006306	NP_006297		deleterious(0)	1	SMC1A_HUMAN	SMC1A	HGNC	Q14683	SMC1A_HUMAN					6	983	-			UPI0000135A4D	305			Potential.		SNV	SMC1A,missense_variant,p.Thr305Asn,ENST00000322213,NM_001281463.1,NM_006306.3;SMC1A,intron_variant,,ENST00000375340,;SMC1A,downstream_gene_variant,,ENST00000428014,;SMC1A,3_prime_UTR_variant,,ENST00000463684,;	uc004dsg.2	c.914C>A	1042/9784	1	1			c.914C>A						23	SNP	c.(913-915)ACC>AAC	16	16			ovary(5)|central_nervous_system(1)	6	Broad	structural maintenance of chromosomes 1A			53439144		0.498	ENSG00000072501	14552	g.chrX:53439144G>T	cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity							51.377488	KEEP	15	9	0.625	33	33	15	9	0.625	55.152972	33	33	0.271605	1	0	0	0	0	1	0	0	0	--	--		0	T			SMC1A_uc011moe.1_Missense_Mutation_p.T283N|SMC1A_uc011mof.1_Intron	232	GBM-32-1982-TP	p.T305N	G	TTTGTGGGAGGTGTTCTCCTT	NM_006306	NP_006297	53439144	Q14683	SMC1A_HUMAN	0			6	983	-	T	T			Missense_Mutation	305			Potential.			
SMC1A	0	broad.mit.edu	GRCh37	X	53409449	53409449	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-4208-01	TCGA-32-4208-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322213.4:c.3263T>C	p.Leu1088Pro	p.L1088P	ENST00000322213	NM_001281463.1	1088	cTg/cCg	0			1			G	L/P	uc004dsg.2	protein_coding	YES	CCDS14352.1			3263/3702									ovary(5)|central_nervous_system(1)	6	c.(3262-3264)CTG>CCG			Gene3D:3.40.50.300,Pfam_domain:PF02463,PIRSF_domain:PIRSF005719,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF170	structural maintenance of chromosomes 1A				ENSP00000323421		21/25									COSM3406469	21/25	.		ENST00000322213	Transcript	1		cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	ENSG00000072501	g.chrX:53409449A>G	11111			MODERATE		3.53	high	getma.org/?cm=msa&ty=f&p=SMC1A_HUMAN&rb=3&re=1212&var=L1088P	getma.org/pdb.php?prot=SMC1A_HUMAN&from=3&to=1212&var=L1088P	getma.org/?cm=var&var=hg19,X,53409449,A,G&fts=all	L1088P	--	--	1																																		SMC1A_uc011moe.1_Missense_Mutation_p.L1066P	1	1		probably_damaging(0.999)	p.L1088P	NM_006306	NP_006297		deleterious(0)	1	SMC1A_HUMAN	SMC1A	HGNC	Q14683	SMC1A_HUMAN					21	3332	-			UPI0000135A4D	1088					SNV	SMC1A,missense_variant,p.Leu1088Pro,ENST00000322213,NM_001281463.1,NM_006306.3;SMC1A,missense_variant,p.Leu185Pro,ENST00000470241,;SMC1A,non_coding_transcript_exon_variant,,ENST00000469129,;	uc004dsg.2	c.3263T>C	3391/9784	3	3			c.3263T>C						23	SNP	c.(3262-3264)CTG>CCG	7	7			ovary(5)|central_nervous_system(1)	6	Broad	structural maintenance of chromosomes 1A			53409449		0.527	ENSG00000072501	14552	g.chrX:53409449A>G	cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity							0.92689	KEEP	0	2	-1	17	15	0	2	-1	6.763521	17	15	0.066667	1	0	0	0	0	1	0	0	0	--	--		0	G			SMC1A_uc011moe.1_Missense_Mutation_p.L1066P	243	GBM-32-4208-TP	p.L1088P	A	ATTGCGGGACAGGGCCTTATA	NM_006306	NP_006297	53409449	Q14683	SMC1A_HUMAN	0			21	3332	-	G	G			Missense_Mutation	1088						
SMC1A	8243		GRCh37	X	53439849	53439849	+	splice_donor_variant	Splice_Site	SNP	C	C	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000322213.4:c.854+1G>A		p.X285_splice	ENST00000322213	NM_001281463.1	285		0																																																																																																																																																																																																																																												
SMC1B	27127		GRCh37	22	45750854	45750854	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000357450.4:c.3103C>G	p.Gln1035Glu	p.Q1035E	ENST00000357450	NM_148674.3	1035	Caa/Gaa	0																																																																																																																																																																																																																																												
SMC2	10592	broad.mit.edu	GRCh37	9	106885401	106885401	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0648-01	TCGA-06-0648-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286398.7:c.2145A>G	p.Leu715=	p.L715=	ENST00000286398	NM_006444.2	715	ctA/ctG	0			1			G	L	uc004bbv.2	protein_coding	YES	CCDS35086.1			2145/3594									ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9	c.(2143-2145)CTA>CTG			Coiled-coils_(Ncoils):Coil,PIRSF_domain:PIRSF005719,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF9	structural maintenance of chromosomes 2				ENSP00000286398		17/25									COSM2151367,COSM2151366,COSM3413206	17/25	.		ENST00000286398	Transcript			cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	ENSG00000136824	g.chr9:106885401A>G	14011			LOW								--	--	1																																		SMC2_uc004bbu.1_Silent_p.L715L|SMC2_uc004bbw.2_Silent_p.L715L|SMC2_uc011lvl.1_Silent_p.L715L|SMC2_uc004bbx.2_Silent_p.L715L	1,1,1	1			p.L715L	NM_001042551	NP_001036016			1,1,1	SMC2_HUMAN	SMC2	HGNC	O95347	SMC2_HUMAN			Q5T821_HUMAN		17	2433	+			UPI000013DE44	715			Potential.		SNV	SMC2,synonymous_variant,p.=,ENST00000286398,NM_006444.2,NM_001265602.1,NM_001042551.1;SMC2,synonymous_variant,p.=,ENST00000374793,;SMC2,synonymous_variant,p.=,ENST00000374787,NM_001042550.1;SMC2,synonymous_variant,p.=,ENST00000303219,;SMC2,upstream_gene_variant,,ENST00000493955,;	uc004bbv.2	c.2145A>G	2433/5976	3	3			c.2145A>G						9	SNP	c.(2143-2145)CTA>CTG	52	52			ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9	Broad	structural maintenance of chromosomes 2			106885401		0.348	ENSG00000136824	14554	g.chr9:106885401A>G	cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			1437			1437	128.674702	KEEP	19	19	-1	24	19	19	19	-1	128.782752	24	19	0.458333	1	0	0	0	0	0	0	1	0	--	--		0	G			SMC2_uc004bbu.1_Silent_p.L715L|SMC2_uc004bbw.2_Silent_p.L715L|SMC2_uc011lvl.1_Silent_p.L715L|SMC2_uc004bbx.2_Silent_p.L715L	61	GBM-06-0648-TP	p.L715L	A	ATCGCCAACTAAAACAGCAGT	NM_001042551	NP_001036016	106885401	O95347	SMC2_HUMAN	0			17	2433	+	G	G			Silent	715			Potential.			
SMC2	0	broad.mit.edu	GRCh37	9	106889054	106889054	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01	TCGA-28-2502-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286398.7:c.2584G>A	p.Ala862Thr	p.A862T	ENST00000286398	NM_006444.2	862	Gct/Act	0			1			A	A/T	uc004bbv.2	protein_coding	YES	CCDS35086.1			2584/3594									ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9	c.(2584-2586)GCT>ACT			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF02463,PIRSF_domain:PIRSF005719,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF9	structural maintenance of chromosomes 2				ENSP00000286398		19/25									COSM3413208,COSM3413207,COSM3413209	19/25	.		ENST00000286398	Transcript			cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	ENSG00000136824	g.chr9:106889054G>A	14011			MODERATE		0.67	neutral	getma.org/?cm=msa&ty=f&p=SMC2_HUMAN&rb=717&re=1167&var=A862T	NA	getma.org/?cm=var&var=hg19,9,106889054,G,A&fts=all	A862T	--	--	1																																		SMC2_uc004bbw.2_Missense_Mutation_p.A862T|SMC2_uc011lvl.1_Missense_Mutation_p.A862T|SMC2_uc004bbx.2_Missense_Mutation_p.A862T|SMC2_uc004bby.2_5'Flank	1,1,1	1		benign(0.023)	p.A862T	NM_001042551	NP_001036016		tolerated(0.37)	1,1,1	SMC2_HUMAN	SMC2	HGNC	O95347	SMC2_HUMAN			Q5T821_HUMAN		19	2872	+			UPI000013DE44	862			Potential.		SNV	SMC2,missense_variant,p.Ala862Thr,ENST00000286398,NM_006444.2,NM_001265602.1,NM_001042551.1;SMC2,missense_variant,p.Ala862Thr,ENST00000374793,;SMC2,missense_variant,p.Ala862Thr,ENST00000374787,NM_001042550.1;SMC2,missense_variant,p.Ala862Thr,ENST00000303219,;SMC2,upstream_gene_variant,,ENST00000493955,;	uc004bbv.2	c.2584G>A	2872/5976	1	1			c.2584G>A						9	SNP	c.(2584-2586)GCT>ACT	49	49			ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9	Broad	structural maintenance of chromosomes 2			106889054		0.338	ENSG00000136824	14554	g.chr9:106889054G>A	cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			1437			1437	-17.584835	KEEP	2	2	-1	47	69	2	2	-1	7.486778	47	69	0.037037	1	0	0	0	0	1	0	0	0	--	--		0	A			SMC2_uc004bbw.2_Missense_Mutation_p.A862T|SMC2_uc011lvl.1_Missense_Mutation_p.A862T|SMC2_uc004bbx.2_Missense_Mutation_p.A862T|SMC2_uc004bby.2_5'Flank	210	GBM-28-2502-TP	p.A862T	G	AGCTGAGGTGGCTAAAAATAA	NM_001042551	NP_001036016	106889054	O95347	SMC2_HUMAN	0			19	2872	+	A	A			Missense_Mutation	862			Potential.			
SMC3	9126	broad.mit.edu	GRCh37	10	112350834	112350834	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0126-01	TCGA-06-0126-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361804.4:c.1756A>G	p.Thr586Ala	p.T586A	ENST00000361804	NM_005445.3	586	Act/Gct	0			1			G	T/A	uc001kze.2	protein_coding	YES	CCDS31285.1			1756/3654									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(1756-1758)ACT>GCT			Superfamily_domains:0038317,Pfam_domain:PF02463,Pfam_domain:PF06470,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF164,SMART_domains:SM00968	structural maintenance of chromosomes 3				ENSP00000354720		17/29									COSM1664277	17/29	.		ENST00000361804	Transcript	1		cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	ENSG00000108055	g.chr10:112350834A>G	2468			MODERATE		3.31	medium	getma.org/?cm=msa&ty=f&p=SMC3_HUMAN&rb=529&re=643&var=T586A	getma.org/pdb.php?prot=SMC3_HUMAN&from=529&to=643&var=T586A	getma.org/?cm=var&var=hg19,10,112350834,A,G&fts=all	T586A	0.55	neutral	1																																			1	1		probably_damaging(0.941)	p.T586A	NM_005445	NP_005436		deleterious(0.01)	1	SMC3_HUMAN	SMC3	HGNC	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)			17	1882	+		Breast(234;0.0848)|Lung NSC(174;0.238)	UPI0000135A8D	586			Flexible hinge.		SNV	SMC3,missense_variant,p.Thr586Ala,ENST00000361804,NM_005445.3;	uc001kze.2	c.1756A>G	1882/4114	3	3			c.1756A>G						10	SNP	c.(1756-1758)ACT>GCT	9	9			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	structural maintenance of chromosomes 3			112350834		0.328	ENSG00000108055	14555	g.chr10:112350834A>G	cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity							148.078464	KEEP	24	15	-1	7	4	24	15	-1	151.498165	7	4	0.77551	1	0	0	0	0	1	0	0	0	0.55	neutral		0	G				13	GBM-06-0126-TP	p.T586A	A	TGGAGAGGTTACTTTTCTGCC	NM_005445	NP_005436	112350834	Q9UQE7	SMC3_HUMAN	0		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	17	1882	+	G	G		Breast(234;0.0848)|Lung NSC(174;0.238)	Missense_Mutation	586			Flexible hinge.			
SMC3	9126	broad.mit.edu	GRCh37	10	112344031	112344031	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0743-01	TCGA-06-0743-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361804.4:c.1182G>T	p.Trp394Cys	p.W394C	ENST00000361804	NM_005445.3	394	tgG/tgT	0			1			T	W/C	uc001kze.2	protein_coding	YES	CCDS31285.1			1182/3654									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(1180-1182)TGG>TGT			Pfam_domain:PF02463,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF164	structural maintenance of chromosomes 3				ENSP00000354720		13/29									COSM3396914	13/29	.		ENST00000361804	Transcript	1		cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	ENSG00000108055	g.chr10:112344031G>T	2468			MODERATE		3.215	medium	getma.org/?cm=msa&ty=f&p=SMC3_HUMAN&rb=2&re=1197&var=W394C	NA	getma.org/?cm=var&var=hg19,10,112344031,G,T&fts=all	W394C	--	--	1																																			1	1		probably_damaging(0.99)	p.W394C	NM_005445	NP_005436		deleterious(0)	1	SMC3_HUMAN	SMC3	HGNC	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)			13	1308	+		Breast(234;0.0848)|Lung NSC(174;0.238)	UPI0000135A8D	394			Potential.		SNV	SMC3,missense_variant,p.Trp394Cys,ENST00000361804,NM_005445.3;SMC3,downstream_gene_variant,,ENST00000462899,;	uc001kze.2	c.1182G>T	1308/4114	1	1			c.1182G>T						10	SNP	c.(1180-1182)TGG>TGT	6	6			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	structural maintenance of chromosomes 3			112344031		0.383	ENSG00000108055	14555	g.chr10:112344031G>T	cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity							148.309591	KEEP	22	33	0.4	20	7	22	33	0.4	149.748257	20	7	0.648649	1	0	0	0	0	1	0	0	0	--	--		0	T				65	GBM-06-0743-TP	p.W394C	G	GGGATAAGTGGATTAAAAAGG	NM_005445	NP_005436	112344031	Q9UQE7	SMC3_HUMAN	0		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	13	1308	+	T	T		Breast(234;0.0848)|Lung NSC(174;0.238)	Missense_Mutation	394			Potential.			
SMC3	0	broad.mit.edu	GRCh37	10	112350788	112350788	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361804.4:c.1710G>A	p.Thr570=	p.T570=	ENST00000361804	NM_005445.3	570	acG/acA	0			1			A	T	uc001kze.2	protein_coding	YES	CCDS31285.1			1710/3654									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(1708-1710)ACG>ACA			Superfamily_domains:0038317,Pfam_domain:PF02463,Pfam_domain:PF06470,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF164,SMART_domains:SM00968	structural maintenance of chromosomes 3				ENSP00000354720		17/29									COSM201331	17/29	.		ENST00000361804	Transcript	1		cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	ENSG00000108055	g.chr10:112350788G>A	2468			LOW								--	--	1																																			1	1			p.T570T	NM_005445	NP_005436			1	SMC3_HUMAN	SMC3	HGNC	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)			17	1836	+		Breast(234;0.0848)|Lung NSC(174;0.238)	UPI0000135A8D	570			Flexible hinge.		SNV	SMC3,synonymous_variant,p.=,ENST00000361804,NM_005445.3;	uc001kze.2	c.1710G>A	1836/4114	2	2			c.1710G>A						10	SNP	c.(1708-1710)ACG>ACA	33	33			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	structural maintenance of chromosomes 3			112350788		0.363	ENSG00000108055	14555	g.chr10:112350788G>A	cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity							144.507513	KEEP	22	21	-1	3	7	22	21	-1	149.788812	3	7	0.836735	1	0	0	0	0	0	0	1	0	--	--		0	A				270	GBM-76-4931-TP	p.T570T	G	AAGTCAGCACGAAGATTTTAA	NM_005445	NP_005436	112350788	Q9UQE7	SMC3_HUMAN	0		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	17	1836	+	A	A		Breast(234;0.0848)|Lung NSC(174;0.238)	Silent	570			Flexible hinge.			
SMC3	9126		GRCh37	10	112350849	112350851	+	inframe_deletion	In_Frame_Del	DEL	AAC	AAC	-			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000361804.4:c.1773_1775del	p.Asn591del	p.N591del	ENST00000361804	NM_005445.3	591	AAC/-	0																																																																																																																																																																																																																																												
SMCHD1	23347	broad.mit.edu	GRCh37	18	2705783	2705783	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0649-01	TCGA-06-0649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320876.6:c.1934G>T	p.Gly645Val	p.G645V	ENST00000320876	NM_015295.2	645	gGa/gTa	0			1			T	G/V	uc002klm.3	protein_coding	YES	CCDS45822.1			1934/6018										0	c.(1933-1935)GGA>GTA			hmmpanther:PTHR22640:SF2,hmmpanther:PTHR22640	structural maintenance of chromosomes flexible				ENSP00000326603		14/48									COSM3403488,COSM3403487,COSM3403489	14/48	.		ENST00000320876	Transcript	1		chromosome organization		ATP binding	ENSG00000101596	g.chr18:2705783G>T	29090			MODERATE		1.795	low	getma.org/?cm=msa&ty=f&p=SMHD1_HUMAN&rb=500&re=699&var=G645V	NA	getma.org/?cm=var&var=hg19,18,2705783,G,T&fts=all	G645V	--	--	1																																		SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_5'Flank	1,1,1	1		probably_damaging(1)	p.G645V	NM_015295	NP_056110		deleterious(0)	1,1,1	SMHD1_HUMAN	SMCHD1	HGNC	A6NHR9	SMHD1_HUMAN					14	2123	+			UPI00001D7AAD	645					SNV	SMCHD1,missense_variant,p.Gly645Val,ENST00000320876,NM_015295.2;SMCHD1,missense_variant,p.Gly645Val,ENST00000261598,;RP11-703M24.5,intron_variant,,ENST00000583546,;SMCHD1,missense_variant,p.Gly116Val,ENST00000577880,;SMCHD1,non_coding_transcript_exon_variant,,ENST00000577300,;SMCHD1,upstream_gene_variant,,ENST00000584897,;SMCHD1,downstream_gene_variant,,ENST00000585229,;SMCHD1,upstream_gene_variant,,ENST00000581711,;	uc002klm.3	c.1934G>T	2272/8821	1	1			c.1934G>T						18	SNP	c.(1933-1935)GGA>GTA	11	11				0	Broad	structural maintenance of chromosomes flexible			2705783		0.333	ENSG00000101596	14559	g.chr18:2705783G>T	chromosome organization		ATP binding							26.382117	KEEP	4	12	0.25	13	29	4	12	0.25	28.184511	13	29	0.3	1	0	0	0	0	1	0	0	0	--	--		0	T			SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_5'Flank	62	GBM-06-0649-TP	p.G645V	G	TATGCTACAGGAGGAGAGGTT	NM_015295	NP_056110	2705783	A6NHR9	SMHD1_HUMAN	0			14	2123	+	T	T			Missense_Mutation	645						
SMCHD1	0	broad.mit.edu	GRCh37	18	2700844	2700844	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-19-5955-01	TCGA-19-5955-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320876.6:c.1575A>C	p.Lys525Asn	p.K525N	ENST00000320876	NM_015295.2	525	aaA/aaC	0			1			C	K/N	uc002klm.3	protein_coding	YES	CCDS45822.1			1575/6018										0	c.(1573-1575)AAA>AAC			hmmpanther:PTHR22640:SF2,hmmpanther:PTHR22640	structural maintenance of chromosomes flexible				ENSP00000326603		Dec-48									COSM3403486,COSM3403485	Dec-48	.		ENST00000320876	Transcript	1		chromosome organization		ATP binding	ENSG00000101596	g.chr18:2700844A>C	29090			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=SMHD1_HUMAN&rb=500&re=699&var=K525N	NA	getma.org/?cm=var&var=hg19,18,2700844,A,C&fts=all	K525N	--	--	1																																		SMCHD1_uc002klk.3_RNA	1,1	1		probably_damaging(0.997)	p.K525N	NM_015295	NP_056110		deleterious(0)	1,1	SMHD1_HUMAN	SMCHD1	HGNC	A6NHR9	SMHD1_HUMAN					12	1764	+			UPI00001D7AAD	525					SNV	SMCHD1,missense_variant,p.Lys525Asn,ENST00000320876,NM_015295.2;SMCHD1,missense_variant,p.Lys525Asn,ENST00000261598,;RP11-703M24.5,intron_variant,,ENST00000583546,;SMCHD1,missense_variant,p.Lys24Asn,ENST00000585229,;SMCHD1,upstream_gene_variant,,ENST00000577880,;SMCHD1,upstream_gene_variant,,ENST00000577300,;SMCHD1,downstream_gene_variant,,ENST00000581226,;	uc002klm.3	c.1575A>C	1913/8821	3	3			c.1575A>C						18	SNP	c.(1573-1575)AAA>AAC	64	64				0	Broad	structural maintenance of chromosomes flexible			2700844		0.338	ENSG00000101596	14559	g.chr18:2700844A>C	chromosome organization		ATP binding							32.243862	KEEP	11	8	-1	57	59	11	8	-1	47.401973	57	59	0.135593	1	0	0	0	0	1	0	0	0	--	--		0	C			SMCHD1_uc002klk.3_RNA	175	GBM-19-5955-TP	p.K525N	A	GCACAAATAAATTGACGTTTA	NM_015295	NP_056110	2700844	A6NHR9	SMHD1_HUMAN	0			12	1764	+	C	C			Missense_Mutation	525						
SMCHD1	0	broad.mit.edu	GRCh37	18	2770043	2770044	+	frameshift_variant	Frame_Shift_Del	DEL	CA	CA	-			TCGA-32-2495-01	TCGA-32-2495-01	CA	CA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320876.6:c.4903_4904delCA	p.Gln1635ValfsTer6	p.Q1635Vfs*6	ENST00000320876	NM_015295.2	1635	CAg/g	0			1			-	Q/X	uc002klm.3	protein_coding	YES	CCDS45822.1			4903-4904/6018										0	c.(4903-4905)CAGfs			hmmpanther:PTHR22640:SF2,hmmpanther:PTHR22640	structural maintenance of chromosomes flexible				ENSP00000326603		39/48										39/48	.		ENST00000320876	Transcript	1		chromosome organization		ATP binding	ENSG00000101596	g.chr18:2770043_2770044delCA	29090			HIGH								--	--	1																																		SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA		1			p.Q1635fs	NM_015295	NP_056110				SMHD1_HUMAN	SMCHD1	HGNC	A6NHR9	SMHD1_HUMAN					39	5092_5093	+			UPI00001D7AAD	1635					deletion	SMCHD1,frameshift_variant,p.Gln1635ValfsTer6,ENST00000320876,NM_015295.2;SMCHD1,frameshift_variant,p.Gln1635ValfsTer6,ENST00000261598,;snoU13,upstream_gene_variant,,ENST00000459147,;RP11-703M24.5,intron_variant,,ENST00000583546,;SMCHD1,frameshift_variant,p.Gln1106ValfsTer6,ENST00000577880,;SMCHD1,3_prime_UTR_variant,,ENST00000584897,;SMCHD1,downstream_gene_variant,,ENST00000583344,;	uc002klm.3	c.4903_4904delCA	5241-5242/8821	5	5			c.4903_4904delCA						18	DEL	c.(4903-4905)CAGfs	26	26				0	Broad	structural maintenance of chromosomes flexible			2770044		0.277	ENSG00000101596	14559	g.chr18:2770043_2770044delCA	chromosome organization		ATP binding																				0.36	1	1	0	1	0	0	0	0	0	--	--		0	-			SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	237	GBM-32-2495-TP	p.Q1635fs	CA	CCAATTATCTCAGTCTATTGTT	NM_015295	NP_056110	2770043	A6NHR9	SMHD1_HUMAN	0			39	5092_5093	+	-	-			Frame_Shift_Del	1635						
SMCHD1	0	broad.mit.edu	GRCh37	18	2752502	2752502	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01	TCGA-32-4211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320876.6:c.4298G>A	p.Cys1433Tyr	p.C1433Y	ENST00000320876	NM_015295.2	1433	tGt/tAt	0			1			A	C/Y	uc002klm.3	protein_coding	YES	CCDS45822.1			4298/6018										0	c.(4297-4299)TGT>TAT			hmmpanther:PTHR22640:SF2,hmmpanther:PTHR22640	structural maintenance of chromosomes flexible				ENSP00000326603		34/48									COSM3403491,COSM3403490,COSM3403492	34/48	.		ENST00000320876	Transcript	1		chromosome organization		ATP binding	ENSG00000101596	g.chr18:2752502G>A	29090			MODERATE		2.075	medium	getma.org/?cm=msa&ty=f&p=SMHD1_HUMAN&rb=1300&re=1499&var=C1433Y	NA	getma.org/?cm=var&var=hg19,18,2752502,G,A&fts=all	C1433Y	--	--	1																																		SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	1,1,1	1		probably_damaging(0.929)	p.C1433Y	NM_015295	NP_056110		tolerated(0.4)	1,1,1	SMHD1_HUMAN	SMCHD1	HGNC	A6NHR9	SMHD1_HUMAN					34	4487	+			UPI00001D7AAD	1433					SNV	SMCHD1,missense_variant,p.Cys1433Tyr,ENST00000320876,NM_015295.2;SMCHD1,missense_variant,p.Cys1433Tyr,ENST00000261598,;RP11-703M24.5,intron_variant,,ENST00000583546,;SMCHD1,missense_variant,p.Cys904Tyr,ENST00000577880,;SMCHD1,3_prime_UTR_variant,,ENST00000584897,;SMCHD1,non_coding_transcript_exon_variant,,ENST00000583441,;	uc002klm.3	c.4298G>A	4636/8821	1	1			c.4298G>A						18	SNP	c.(4297-4299)TGT>TAT	64	64				0	Broad	structural maintenance of chromosomes flexible			2752502		0.303	ENSG00000101596	14559	g.chr18:2752502G>A	chromosome organization		ATP binding							23.088982	KEEP	7	6	-1	33	19	7	6	-1	27.901306	33	19	0.196429	1	0	0	0	0	1	0	0	0	--	--		0	A			SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	246	GBM-32-4211-TP	p.C1433Y	G	ACATTTAGTTGTAATAAAATA	NM_015295	NP_056110	2752502	A6NHR9	SMHD1_HUMAN	0			34	4487	+	A	A			Missense_Mutation	1433						
SMCP	4184	broad.mit.edu	GRCh37	1	152857174	152857174	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6388-01	TCGA-06-6388-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368765.3:c.276G>A	p.Pro92=	p.P92=	ENST00000368765	NM_030663.2	92	ccG/ccA	0			1			A	P	uc001fat.2	protein_coding	YES	CCDS1029.1			276/351										0	c.(274-276)CCG>CCA				sperm mitochondria-associated cysteine-rich				ENSP00000357754		2-Feb									COSM414036	2-Feb	.		ENST00000368765	Transcript			penetration of zona pellucida|sperm motility	mitochondrial membrane		ENSG00000163206	g.chr1:152857174G>A	6962			LOW								--	--	1																																			1	1			p.P92P	NM_030663	NP_109588			1	MCSP_HUMAN	SMCP	HGNC	P49901	MCSP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		Q5T7P5_HUMAN		2	421	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		UPI000012EDEB	92					SNV	SMCP,synonymous_variant,p.=,ENST00000368765,NM_030663.2;	uc001fat.2	c.276G>A	426/775	1	1			c.276G>A						1	SNP	c.(274-276)CCG>CCA	49	49				0	Broad	sperm mitochondria-associated cysteine-rich			152857174		0.537	ENSG00000163206	14560	g.chr1:152857174G>A	penetration of zona pellucida|sperm motility	mitochondrial membrane								-27.557848	KEEP	2	3	-1	70	91	2	3	-1	6.350347	70	91	0.028777	1	0	0	0	0	0	0	1	0	--	--		0	A				104	GBM-06-6388-TP	p.P92P	G	CCAACTCACCGCAAACTCAGG	NM_030663	NP_109588	152857174	P49901	MCSP_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.171)		2	421	+	A	A	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Silent	92						
SMCR8	0	broad.mit.edu	GRCh37	17	18219935	18219935	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1832-01	TCGA-27-1832-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000406438.3:c.832G>A	p.Ala278Thr	p.A278T	ENST00000406438	NM_144775.2	278	Gcc/Acc	0			1			A	A/T	uc002gsy.3	protein_coding	YES	CCDS11195.2			832/2814									central_nervous_system(1)	1	c.(832-834)GCC>ACC			hmmpanther:PTHR31334:SF1,hmmpanther:PTHR31334	Smith-Magenis syndrome chromosome region,				ENSP00000385025		2-Jan									COSM3402649	2-Jan	.		ENST00000406438	Transcript						ENSG00000176994	g.chr17:18219935G>A	17921			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=SMCR8_HUMAN&rb=253&re=452&var=A278T	NA	getma.org/?cm=var&var=hg19,17,18219935,G,A&fts=all	A278T	--	--	1																																			1	1		benign(0.002)	p.A278T	NM_144775	NP_658988		tolerated(0.38)	1	SMCR8_HUMAN	SMCR8	HGNC	Q8TEV9	SMCR8_HUMAN					1	1342	+			UPI0000E0322D	278					SNV	SMCR8,missense_variant,p.Ala278Thr,ENST00000406438,NM_144775.2;TOP3A,upstream_gene_variant,,ENST00000321105,NM_004618.3;TOP3A,upstream_gene_variant,,ENST00000542570,;TOP3A,upstream_gene_variant,,ENST00000580095,;TOP3A,upstream_gene_variant,,ENST00000582230,;TOP3A,upstream_gene_variant,,ENST00000584669,;TOP3A,upstream_gene_variant,,ENST00000584887,;TOP3A,upstream_gene_variant,,ENST00000584582,;TOP3A,upstream_gene_variant,,ENST00000582981,;TOP3A,upstream_gene_variant,,ENST00000472959,;TOP3A,upstream_gene_variant,,ENST00000461127,;TOP3A,upstream_gene_variant,,ENST00000583328,;TOP3A,upstream_gene_variant,,ENST00000585031,;TOP3A,upstream_gene_variant,,ENST00000580713,;RPL7AP65,downstream_gene_variant,,ENST00000418183,;RPL21P121,downstream_gene_variant,,ENST00000439258,;	uc002gsy.3	c.832G>A	1312/3427	1	1			c.832G>A						17	SNP	c.(832-834)GCC>ACC	56	56			central_nervous_system(1)	1	Broad	Smith-Magenis syndrome chromosome region,			18219935		0.517	ENSG00000176994	14563	g.chr17:18219935G>A										53.309419	KEEP	10	12	-1	29	39	10	12	-1	57.961666	29	39	0.255814	1	0	0	0	0	1	0	0	0	--	--		0	A				191	GBM-27-1832-TP	p.A278T	G	CCAGGATCAGGCCAGCCAGGC	NM_144775	NP_658988	18219935	Q8TEV9	SMCR8_HUMAN	0			1	1342	+	A	A			Missense_Mutation	278						
SMEK1	0	broad.mit.edu	GRCh37	14	91937214	91937214	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0745-01	TCGA-06-0745-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000554684.1:c.1588C>G	p.Leu530Val	p.L530V	ENST00000554684	NM_001284280.1	530	Ctt/Gtt	0			1			C	L/V	uc001xzn.2	protein_coding					1627/2502										0	c.(1627-1629)CTT>GTT			Superfamily_domains:SSF48371,hmmpanther:PTHR23318,hmmpanther:PTHR23318:SF3	SMEK homolog 1, suppressor of mek1				ENSP00000450883		15-Oct									COSM2151726,COSM2151727	15-Oct	.		ENST00000554943	Transcript				microtubule organizing center|nucleus	protein binding	ENSG00000100796	g.chr14:91937214G>C	20219			MODERATE		3.095	medium	getma.org/?cm=msa&ty=f&p=P4R3A_HUMAN&rb=358&re=557&var=L543V	NA	getma.org/?cm=var&var=hg19,14,91937214,G,C&fts=all	L543V	--	--	1																																		SMEK1_uc001xzm.2_Missense_Mutation_p.L530V|SMEK1_uc001xzo.2_Missense_Mutation_p.L530V|SMEK1_uc010atz.2_Missense_Mutation_p.L304V|SMEK1_uc001xzp.1_RNA	1,1			possibly_damaging(0.742)	p.L543V	NM_032560	NP_115949		tolerated(0.13)	1,1	P4R3A_HUMAN	SMEK1	HGNC	Q6IN85	P4R3A_HUMAN		COAD - Colon adenocarcinoma(157;0.221)	G3V4R3_HUMAN,G3V231_HUMAN		10	2449	-		all_cancers(154;0.0691)|all_epithelial(191;0.219)	UPI000037834C	543					SNV	SMEK1,missense_variant,p.Leu530Val,ENST00000554684,NM_001284280.1;SMEK1,missense_variant,p.Leu530Val,ENST00000337238,NM_032560.4;SMEK1,missense_variant,p.Leu543Val,ENST00000554943,;SMEK1,missense_variant,p.Leu304Val,ENST00000555462,NM_001284281.1;SMEK1,missense_variant,p.Leu304Val,ENST00000428424,;SMEK1,downstream_gene_variant,,ENST00000555470,;SMEK1,downstream_gene_variant,,ENST00000555029,;SMEK1,upstream_gene_variant,,ENST00000555718,;SMEK1,missense_variant,p.Leu530Val,ENST00000554390,;SMEK1,missense_variant,p.Leu533Val,ENST00000554308,;SMEK1,downstream_gene_variant,,ENST00000554574,;	uc001xzn.2	c.1627C>G	1743/3369	3	3			c.1627C>G						14	SNP	c.(1627-1629)CTT>GTT	53	53				0	Broad	SMEK homolog 1, suppressor of mek1			91937214		0.333	ENSG00000100796	14564	g.chr14:91937214G>C		microtubule organizing center|nucleus	protein binding							90.46333	KEEP	13	16	-1	40	32	13	16	-1	93.750313	40	32	0.301075	1	0	0	0	0	1	0	0	0	--	--		0	C			SMEK1_uc001xzm.2_Missense_Mutation_p.L530V|SMEK1_uc001xzo.2_Missense_Mutation_p.L530V|SMEK1_uc010atz.2_Missense_Mutation_p.L304V|SMEK1_uc001xzp.1_RNA	67	GBM-06-0745-TP	p.L543V	G	GAGGCCATAAGAACTAGCACT	NM_032560	NP_115949	91937214	Q6IN85	P4R3A_HUMAN	0		COAD - Colon adenocarcinoma(157;0.221)	10	2449	-	C	C		all_cancers(154;0.0691)|all_epithelial(191;0.219)	Missense_Mutation	543						
SMEK1	0	broad.mit.edu	GRCh37	14	91948148	91948148	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-16-0861-01	TCGA-16-0861-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000554943.1:c.687T>C	p.Ala229=	p.A229=	ENST00000554943		229	gcT/gcC	0			1			G	A	uc001xzn.2	protein_coding					687/2502										0	c.(685-687)GCT>GCC			Superfamily_domains:SSF48371,Pfam_domain:PF04802,hmmpanther:PTHR23318,hmmpanther:PTHR23318:SF3	SMEK homolog 1, suppressor of mek1				ENSP00000450883		15-Apr									COSM3401520,COSM3401521	15-Apr	.		ENST00000554943	Transcript				microtubule organizing center|nucleus	protein binding	ENSG00000100796	g.chr14:91948148A>G	20219			LOW								--	--	1																																		SMEK1_uc001xzm.2_Silent_p.A229A|SMEK1_uc001xzo.2_Silent_p.A229A|SMEK1_uc010atz.2_Intron|SMEK1_uc001xzp.1_RNA|SMEK1_uc001xzq.1_Silent_p.A105A	1,1				p.A229A	NM_032560	NP_115949			1,1	P4R3A_HUMAN	SMEK1	HGNC	Q6IN85	P4R3A_HUMAN		COAD - Colon adenocarcinoma(157;0.221)	G3V4R3_HUMAN,G3V231_HUMAN		4	1509	-		all_cancers(154;0.0691)|all_epithelial(191;0.219)	UPI000037834C	229					SNV	SMEK1,synonymous_variant,p.=,ENST00000554684,NM_001284280.1;SMEK1,synonymous_variant,p.=,ENST00000337238,NM_032560.4;SMEK1,synonymous_variant,p.=,ENST00000554943,;SMEK1,synonymous_variant,p.=,ENST00000555470,;SMEK1,intron_variant,,ENST00000555462,NM_001284281.1;SMEK1,intron_variant,,ENST00000428424,;SMEK1,intron_variant,,ENST00000555029,;SMEK1,downstream_gene_variant,,ENST00000554511,;SMEK1,downstream_gene_variant,,ENST00000557018,;SMEK1,synonymous_variant,p.=,ENST00000554390,;SMEK1,synonymous_variant,p.=,ENST00000554308,;SMEK1,non_coding_transcript_exon_variant,,ENST00000554574,;	uc001xzn.2	c.687T>C	803/3369	4	4			c.687T>C						14	SNP	c.(685-687)GCT>GCC	32	32				0	Broad	SMEK homolog 1, suppressor of mek1			91948148		0.353	ENSG00000100796	14564	g.chr14:91948148A>G		microtubule organizing center|nucleus	protein binding							290.593718	KEEP	38	45	-1	15	11	38	45	-1	297.608218	15	11	0.777778	1	0	0	0	0	0	0	1	0	--	--		0	G			SMEK1_uc001xzm.2_Silent_p.A229A|SMEK1_uc001xzo.2_Silent_p.A229A|SMEK1_uc010atz.2_Intron|SMEK1_uc001xzp.1_RNA|SMEK1_uc001xzq.1_Silent_p.A105A	156	GBM-16-0861-TP	p.A229A	A	GTTGTGATAAAGCAGGATCAT	NM_032560	NP_115949	91948148	Q6IN85	P4R3A_HUMAN	0		COAD - Colon adenocarcinoma(157;0.221)	4	1509	-	G	G		all_cancers(154;0.0691)|all_epithelial(191;0.219)	Silent	229						
SMEK2	0	broad.mit.edu	GRCh37	2	55791468	55791468	+	synonymous_variant	Silent	SNP	C	C	T	rs145292231		TCGA-06-0216-01	TCGA-06-0216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345102.5:c.2241G>A	p.Lys747=	p.K747=	ENST00000345102	NM_001122964.1	747	aaG/aaA	0			1			T	K	uc002rzc.2	protein_coding	YES	CCDS46289.1			2241/2550									skin(1)	1	c.(2239-2241)AAG>AAA			hmmpanther:PTHR23318,hmmpanther:PTHR23318:SF2	SMEK homolog 2, suppressor of mek1 isoform 1				ENSP00000339769		15/17									COSM2150889,COSM2150888	15/17	.		ENST00000345102	Transcript				microtubule organizing center|nucleus	protein binding	ENSG00000138041	g.chr2:55791468C>T	29267			LOW								--	--	1																																		SMEK2_uc002rzb.2_Silent_p.K662K|SMEK2_uc002rzd.2_Silent_p.K715K|SMEK2_uc002ryz.2_Silent_p.K174K|SMEK2_uc002rza.2_Silent_p.K531K	1,1	1			p.K747K	NM_001122964	NP_001116436			1,1	P4R3B_HUMAN	SMEK2	HGNC	Q5MIZ7	P4R3B_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)				15	2616	-			UPI00001C1DBA	747					SNV	SMEK2,synonymous_variant,p.=,ENST00000272313,NM_020463.2;SMEK2,synonymous_variant,p.=,ENST00000345102,NM_001122964.1;SMEK2,synonymous_variant,p.=,ENST00000407823,NM_001282850.1;SNORA12,upstream_gene_variant,,ENST00000390873,;SMEK2,downstream_gene_variant,,ENST00000482826,;	uc002rzc.2	c.2241G>A	2543/4384	1	1			c.2241G>A						2	SNP	c.(2239-2241)AAG>AAA	1	1			skin(1)	1	Broad	SMEK homolog 2, suppressor of mek1 isoform 1			55791468		0.333	ENSG00000138041	14565	g.chr2:55791468C>T		microtubule organizing center|nucleus	protein binding							42.780179	KEEP	12	6	-1	25	11	12	6	-1	44.220714	25	11	0.32	1	0	0	0	0	0	0	1	0	--	--		0	T			SMEK2_uc002rzb.2_Silent_p.K662K|SMEK2_uc002rzd.2_Silent_p.K715K|SMEK2_uc002ryz.2_Silent_p.K174K|SMEK2_uc002rza.2_Silent_p.K531K	51	GBM-06-0216-TP	p.K747K	C	TCTCCATAAACTTTTCATAAT	NM_001122964	NP_001116436	55791468	Q5MIZ7	P4R3B_HUMAN	0	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		15	2616	-	T	T			Silent	747						
SMG1	23049	broad.mit.edu	GRCh37	16	18875133	18875133	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-06-0238-01	TCGA-06-0238-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000446231.2:c.3534T>A	p.Ser1178=	p.S1178=	ENST00000446231		1178	tcT/tcA	0			1			T	S	uc002dfm.2	protein_coding	YES	CCDS45430.1			3534/10986									breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16	c.(3532-3534)TCT>TCA			PROSITE_profiles:PS51189,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF59	PI-3-kinase-related kinase SMG-1				ENSP00000402515		25/63									COSM2151096,COSM2151095	25/63	.		ENST00000446231	Transcript			DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	ENSG00000157106	g.chr16:18875133A>T	30045			LOW								--	--	1																																		SMG1_uc010bwb.2_Silent_p.S1038S	1,1	1			p.S1178S	NM_015092	NP_055907			1,1	SMG1_HUMAN	SMG1	HGNC	Q96Q15	SMG1_HUMAN			H3BPS6_HUMAN		25	3897	-			UPI00004F8E22	1178			FAT.|Interaction with SMG8 and SMG9.		SNV	SMG1,synonymous_variant,p.=,ENST00000446231,;SMG1,synonymous_variant,p.=,ENST00000389467,NM_015092.4;SMG1,synonymous_variant,p.=,ENST00000565324,;SMG1,synonymous_variant,p.=,ENST00000563235,;SMG1,downstream_gene_variant,,ENST00000566328,;SMG1,upstream_gene_variant,,ENST00000569764,;SMG1,downstream_gene_variant,,ENST00000568038,;	uc002dfm.2	c.3534T>A	3947/16115	2	2			c.3534T>A						16	SNP	c.(3532-3534)TCT>TCA	22	22			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16	Broad	PI-3-kinase-related kinase SMG-1			18875133		0.388	ENSG00000157106	14566	g.chr16:18875133A>T	DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			1101			1101	51.826445	KEEP	13	16	-1	57	68	13	16	-1	53.82673	57	68	0.305085	1	0	0	0	0	0	0	1	0	--	--		0	T			SMG1_uc010bwb.2_Silent_p.S1038S	55	GBM-06-0238-TP	p.S1178S	A	CCTCAGGGGAAGAGTCAGTCG	NM_015092	NP_055907	18875133	Q96Q15	SMG1_HUMAN	0			25	3897	-	T	T			Silent	1178			FAT.|Interaction with SMG8 and SMG9.			
SMG1	0	broad.mit.edu	GRCh37	16	18853724	18853724	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1829-01	TCGA-14-1829-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000446231.2:c.6272G>A	p.Arg2091His	p.R2091H	ENST00000446231		2091	cGt/cAt	0			1			T	R/H	uc002dfm.2	protein_coding	YES	CCDS45430.1			6272/10986									breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16	c.(6271-6273)CGT>CAT			hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF59,Superfamily_domains:SSF56112	PI-3-kinase-related kinase SMG-1				ENSP00000402515		40/63									COSM967766,COSM1588284	40/63	.		ENST00000446231	Transcript			DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	ENSG00000157106	g.chr16:18853724C>T	30045			MODERATE		0.97	low	getma.org/?cm=msa&ty=f&p=SMG1_HUMAN&rb=2001&re=2148&var=R2091H	NA	getma.org/?cm=var&var=hg19,16,18853724,C,T&fts=all	R2091H	--	--	1																																		SMG1_uc010bwb.2_Missense_Mutation_p.R1951H|SMG1_uc010bwa.2_Missense_Mutation_p.R822H|SMG1_uc002dfo.3_Missense_Mutation_p.R389H	1,1	1		benign(0.002)	p.R2091H	NM_015092	NP_055907		tolerated(0.35)	1,1	SMG1_HUMAN	SMG1	HGNC	Q96Q15	SMG1_HUMAN			H3BPS6_HUMAN		40	6635	-			UPI00004F8E22	2091					SNV	SMG1,missense_variant,p.Arg2091His,ENST00000446231,;SMG1,missense_variant,p.Arg2091His,ENST00000389467,NM_015092.4;SMG1,missense_variant,p.Arg1981His,ENST00000565324,;SMG1,non_coding_transcript_exon_variant,,ENST00000563448,;	uc002dfm.2	c.6272G>A	6685/16115	2	2			c.6272G>A						16	SNP	c.(6271-6273)CGT>CAT	25	25			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16	Broad	PI-3-kinase-related kinase SMG-1			18853724		0.408	ENSG00000157106	14566	g.chr16:18853724C>T	DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			1101			1101	-6.773812	KEEP	3	2	-1	44	41	3	2	-1	10.807228	44	41	0.05814	1	0	0	0	0	1	0	0	0	--	--		0	T			SMG1_uc010bwb.2_Missense_Mutation_p.R1951H|SMG1_uc010bwa.2_Missense_Mutation_p.R822H|SMG1_uc002dfo.3_Missense_Mutation_p.R389H	149	GBM-14-1829-TP	p.R2091H	C	TTCTTCAAGACGCAAGATGTA	NM_015092	NP_055907	18853724	Q96Q15	SMG1_HUMAN	0			40	6635	-	T	T			Missense_Mutation	2091						
SMG1	0	broad.mit.edu	GRCh37	16	18875017	18875018	+	frameshift_variant	Frame_Shift_Del	DEL	GT	GT	-			TCGA-32-1982-01	TCGA-32-1982-01	GT	GT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000446231.2:c.3649_3650delAC	p.Thr1217GlnfsTer2	p.T1217Qfs*2	ENST00000446231		1217	ACc/c	0			1			-	T/X	uc002dfm.2	protein_coding	YES	CCDS45430.1			3649-3650/10986									breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16	c.(3649-3651)ACCfs			Low_complexity_(Seg):seg,PROSITE_profiles:PS51189,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF59,Superfamily_domains:SSF48371	PI-3-kinase-related kinase SMG-1				ENSP00000402515		25/63										25/63	.		ENST00000446231	Transcript			DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	ENSG00000157106	g.chr16:18875017_18875018delGT	30045			HIGH								--	--	1																																		SMG1_uc010bwb.2_Frame_Shift_Del_p.T1077fs		1			p.T1217fs	NM_015092	NP_055907				SMG1_HUMAN	SMG1	HGNC	Q96Q15	SMG1_HUMAN			H3BPS6_HUMAN		25	4012_4013	-			UPI00004F8E22	1217			FAT.|Interaction with SMG8 and SMG9.		deletion	SMG1,frameshift_variant,p.Thr1217GlnfsTer2,ENST00000446231,;SMG1,frameshift_variant,p.Thr1217GlnfsTer2,ENST00000389467,NM_015092.4;SMG1,frameshift_variant,p.Thr1107GlnfsTer2,ENST00000565324,;SMG1,frameshift_variant,p.Thr648GlnfsTer2,ENST00000563235,;SMG1,downstream_gene_variant,,ENST00000566328,;SMG1,upstream_gene_variant,,ENST00000569764,;SMG1,downstream_gene_variant,,ENST00000568038,;	uc002dfm.2	c.3649_3650delAC	4062-4063/16115	5	5			c.3649_3650delAC						16	DEL	c.(3649-3651)ACCfs	46	46			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16	Broad	PI-3-kinase-related kinase SMG-1			18875018		0.366	ENSG00000157106	14566	g.chr16:18875017_18875018delGT	DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			1101			1101														0.28	1	1	0	1	0	0	0	0	0	--	--		0	-			SMG1_uc010bwb.2_Frame_Shift_Del_p.T1077fs	232	GBM-32-1982-TP	p.T1217fs	GT	AGTGCTACTGGTACTCTTTTTC	NM_015092	NP_055907	18875017	Q96Q15	SMG1_HUMAN	0			25	4012_4013	-	-	-			Frame_Shift_Del	1217			FAT.|Interaction with SMG8 and SMG9.			
SMG5	23381	broad.mit.edu	GRCh37	1	156235769	156235769	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs151295845	byFrequency	TCGA-06-2562-01	TCGA-06-2562-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361813.5:c.1658A>G	p.Asn553Ser	p.N553S	ENST00000361813	NM_015327.2	553	aAt/aGt	0	C:0	C:0	1	C:0		C	N/S	uc001foc.3	protein_coding	YES	CCDS1137.1			1658/3051									ovary(2)|skin(2)|pancreas(1)	5	c.(1657-1659)AAT>AGT			hmmpanther:PTHR15696,hmmpanther:PTHR15696:SF1	SMG5 homolog nonsense mediated mRNA decay		C:0.001	C:0.0003	ENSP00000355261	C:0	22-Dec	0.00014			0.00081		0.00015			rs151295845,COSM1983213	22-Dec	common_variant		ENST00000361813	Transcript		C:0.0002	mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	ENSG00000198952	g.chr1:156235769T>C	24644			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=SMG5_HUMAN&rb=434&re=567&var=N553S	NA	getma.org/?cm=var&var=hg19,1,156235769,T,C&fts=all	N553S	--	--	1																																		SMG5_uc009wrv.2_Missense_Mutation_p.N38S	0,1	1		probably_damaging(0.937)	p.N553S	NM_015327	NP_056142	C:0	tolerated(0.35)	0,1	SMG5_HUMAN	SMG5	HGNC	Q9UPR3	SMG5_HUMAN					12	1807	-	Hepatocellular(266;0.158)		UPI0000050C24	553					SNV	SMG5,missense_variant,p.Asn553Ser,ENST00000361813,NM_015327.2;SMG5,intron_variant,,ENST00000368267,;SMG5,downstream_gene_variant,,ENST00000489907,;	uc001foc.3	c.1658A>G	1803/4559	4	4			c.1658A>G						1	SNP	c.(1657-1659)AAT>AGT	48	48			ovary(2)|skin(2)|pancreas(1)	5	Broad	SMG5 homolog nonsense mediated mRNA decay			156235769		0.607	ENSG00000198952	14567	g.chr1:156235769T>C	mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding							93.184199	KEEP	14	19	-1	52	35	14	19	-1	97.885589	52	35	0.281818	1	0	0	0	0	1	0	0	0	--	--		0	C			SMG5_uc009wrv.2_Missense_Mutation_p.N38S	85	GBM-06-2562-TP	p.N553S	T	CAGTGGGCCATTGAGGGAATC	NM_015327	NP_056142	156235769	Q9UPR3	SMG5_HUMAN	0			12	1807	-	C	C	Hepatocellular(266;0.158)		Missense_Mutation	553						
SMG7	9887	broad.mit.edu	GRCh37	1	183511445	183511445	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0185-01	TCGA-06-0185-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000507469.1:c.1650C>T	p.Asn550=	p.N550=	ENST00000507469	NM_201569.2	550	aaC/aaT	0			1			T	N	uc001gqg.2	protein_coding		CCDS1355.1			1650/3414									upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3	c.(1648-1650)AAC>AAT			hmmpanther:PTHR15696,hmmpanther:PTHR15696:SF0	SMG-7 homolog isoform 1				ENSP00000340766		14/22									COSM3400084,COSM3400083	14/22	.		ENST00000347615	Transcript			mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	ENSG00000116698	g.chr1:183511445C>T	16792			LOW								--	--	1																																		SMG7_uc010pob.1_Silent_p.N579N|SMG7_uc001gqf.2_Silent_p.N550N|SMG7_uc001gqh.2_Silent_p.N550N|SMG7_uc001gqi.2_Silent_p.N508N|SMG7_uc010poc.1_Silent_p.N508N	1,1				p.N550N	NM_173156	NP_775179			1,1	SMG7_HUMAN	SMG7	HGNC	Q92540	SMG7_HUMAN			Q6TV06_HUMAN		14	1772	+			UPI0000203D1B	550					SNV	SMG7,synonymous_variant,p.=,ENST00000367537,;SMG7,synonymous_variant,p.=,ENST00000347615,NM_173156.2;SMG7,synonymous_variant,p.=,ENST00000515829,NM_201568.2;SMG7,synonymous_variant,p.=,ENST00000507469,NM_201569.2;SMG7,synonymous_variant,p.=,ENST00000508461,NM_001174061.1;SMG7,synonymous_variant,p.=,ENST00000456731,;SMG7,synonymous_variant,p.=,ENST00000419169,;	uc001gqg.2	c.1650C>T	1769/5788	1	1			c.1650C>T						1	SNP	c.(1648-1650)AAC>AAT	1	1			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3	Broad	SMG-7 homolog isoform 1			183511445		0.428	ENSG00000116698	14569	g.chr1:183511445C>T	mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding							-25.730162	KEEP	5	7	-1	105	107	5	7	-1	15.946786	105	107	0.051282	1	0	0	0	0	0	0	1	0	--	--		0	T			SMG7_uc010pob.1_Silent_p.N579N|SMG7_uc001gqf.2_Silent_p.N550N|SMG7_uc001gqh.2_Silent_p.N550N|SMG7_uc001gqi.2_Silent_p.N508N|SMG7_uc010poc.1_Silent_p.N508N	40	GBM-06-0185-TP	p.N550N	C	TCAAAGAAAACATTAAGACAC	NM_173156	NP_775179	183511445	Q92540	SMG7_HUMAN	0			14	1772	+	T	T			Silent	550						
SMG7	0	broad.mit.edu	GRCh37	1	183514093	183514093	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000347615.2:c.2016C>T	p.Pro672=	p.P672=	ENST00000347615	NM_173156.2	672	ccC/ccT	0			1			T	P	uc001gqg.2	protein_coding		CCDS1355.1			2016/3414									upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3	c.(2014-2016)CCC>CCT			hmmpanther:PTHR15696,hmmpanther:PTHR15696:SF0,Low_complexity_(Seg):seg	SMG-7 homolog isoform 1				ENSP00000340766		16/22									COSM2154282,COSM2154281	16/22	.		ENST00000347615	Transcript			mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	ENSG00000116698	g.chr1:183514093C>T	16792			LOW								--	--	1																																		SMG7_uc010pob.1_Silent_p.P655P|SMG7_uc001gqf.2_Silent_p.P626P|SMG7_uc001gqh.2_Silent_p.P626P|SMG7_uc001gqi.2_Silent_p.P584P|SMG7_uc010poc.1_Silent_p.P630P	1,1				p.P672P	NM_173156	NP_775179			1,1	SMG7_HUMAN	SMG7	HGNC	Q92540	SMG7_HUMAN			Q6TV06_HUMAN		16	2138	+			UPI0000203D1B	672			Gln/Pro-rich.		SNV	SMG7,synonymous_variant,p.=,ENST00000367537,;SMG7,synonymous_variant,p.=,ENST00000347615,NM_173156.2;SMG7,synonymous_variant,p.=,ENST00000515829,NM_201568.2;SMG7,synonymous_variant,p.=,ENST00000507469,NM_201569.2;SMG7,synonymous_variant,p.=,ENST00000508461,NM_001174061.1;SMG7,synonymous_variant,p.=,ENST00000456731,;SMG7,synonymous_variant,p.=,ENST00000419169,;SMG7,upstream_gene_variant,,ENST00000493045,;	uc001gqg.2	c.2016C>T	2135/5788	2	2			c.2016C>T						1	SNP	c.(2014-2016)CCC>CCT	33	33			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3	Broad	SMG-7 homolog isoform 1			183514093		0.443	ENSG00000116698	14569	g.chr1:183514093C>T	mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding							355.607907	KEEP	67	53	-1	102	80	67	53	-1	357.609121	102	80	0.408759	1	0	0	0	0	0	0	1	0	--	--		0	T			SMG7_uc010pob.1_Silent_p.P655P|SMG7_uc001gqf.2_Silent_p.P626P|SMG7_uc001gqh.2_Silent_p.P626P|SMG7_uc001gqi.2_Silent_p.P584P|SMG7_uc010poc.1_Silent_p.P630P	122	GBM-12-0692-TP	p.P672P	C	ATGTTATCCCCCCGCCTGTGG	NM_173156	NP_775179	183514093	Q92540	SMG7_HUMAN	0			16	2138	+	T	T			Silent	672			Gln/Pro-rich.			
SMG7	0	broad.mit.edu	GRCh37	1	183486872	183486872	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-4928-01	TCGA-76-4928-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000347615.2:c.229A>G	p.Lys77Glu	p.K77E	ENST00000347615	NM_173156.2	77	Aag/Gag	0			1			G	K/E	uc001gqg.2	protein_coding		CCDS1355.1			229/3414									upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3	c.(229-231)AAG>GAG			Pfam_domain:PF10374,hmmpanther:PTHR15696,hmmpanther:PTHR15696:SF0,Superfamily_domains:SSF48452	SMG-7 homolog isoform 1				ENSP00000340766		22-Apr									COSM3400082,COSM3400081	22-Apr	.		ENST00000347615	Transcript			mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	ENSG00000116698	g.chr1:183486872A>G	16792			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=SMG7_HUMAN&rb=52&re=172&var=K77E	getma.org/pdb.php?prot=SMG7_HUMAN&from=52&to=172&var=K77E	getma.org/?cm=var&var=hg19,1,183486872,A,G&fts=all	K77E	--	--	1																																		SMG7_uc010pob.1_Missense_Mutation_p.K106E|SMG7_uc001gqf.2_Missense_Mutation_p.K77E|SMG7_uc001gqh.2_Missense_Mutation_p.K77E|SMG7_uc001gqi.2_Missense_Mutation_p.K35E|SMG7_uc010poc.1_Missense_Mutation_p.K35E	1,1			possibly_damaging(0.639)	p.K77E	NM_173156	NP_775179		deleterious(0.02)	1,1	SMG7_HUMAN	SMG7	HGNC	Q92540	SMG7_HUMAN			Q6TV06_HUMAN		4	351	+			UPI0000203D1B	77					SNV	SMG7,missense_variant,p.Lys106Glu,ENST00000367537,;SMG7,missense_variant,p.Lys77Glu,ENST00000347615,NM_173156.2;SMG7,missense_variant,p.Lys77Glu,ENST00000515829,NM_201568.2;SMG7,missense_variant,p.Lys77Glu,ENST00000507469,NM_201569.2;SMG7,missense_variant,p.Lys35Glu,ENST00000508461,NM_001174061.1;SMG7,missense_variant,p.Lys35Glu,ENST00000456731,;SMG7,missense_variant,p.Lys35Glu,ENST00000419169,;SMG7,3_prime_UTR_variant,,ENST00000507691,;SMG7,downstream_gene_variant,,ENST00000502375,;SMG7,upstream_gene_variant,,ENST00000507406,;SMG7,missense_variant,p.Lys77Glu,ENST00000440812,;SMG7,3_prime_UTR_variant,,ENST00000444547,;SMG7,downstream_gene_variant,,ENST00000493609,;SMG7,downstream_gene_variant,,ENST00000367538,;	uc001gqg.2	c.229A>G	348/5788	3	3			c.229A>G						1	SNP	c.(229-231)AAG>GAG	64	64			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3	Broad	SMG-7 homolog isoform 1			183486872		0.443	ENSG00000116698	14569	g.chr1:183486872A>G	mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding							-33.518173	KEEP	5	2	-1	95	118	5	2	-1	15.249444	95	118	0.029851	1	0	0	0	0	1	0	0	0	--	--		0	G			SMG7_uc010pob.1_Missense_Mutation_p.K106E|SMG7_uc001gqf.2_Missense_Mutation_p.K77E|SMG7_uc001gqh.2_Missense_Mutation_p.K77E|SMG7_uc001gqi.2_Missense_Mutation_p.K35E|SMG7_uc010poc.1_Missense_Mutation_p.K35E	268	GBM-76-4928-TP	p.K77E	A	AGGCCAGGCAAAGAATCGAGC	NM_173156	NP_775179	183486872	Q92540	SMG7_HUMAN	0			4	351	+	G	G			Missense_Mutation	77						
SMG8	55181	broad.mit.edu	GRCh37	17	57292254	57292254	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-02-2470-01	TCGA-02-2470-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000543872.2:c.2867T>G	p.Phe956Cys	p.F956C	ENST00000543872		956	tTt/tGt	0			1			G	F/C	uc002ixi.2	protein_coding		CCDS11615.1			2867/2976										0	c.(2866-2868)TTT>TGT			Pfam_domain:PF10220,hmmpanther:PTHR13091,hmmpanther:PTHR13091:SF0	SMG8 protein				ENSP00000300917		4-Apr									COSM2149081	4-Apr	.		ENST00000300917	Transcript			nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	ENSG00000167447	g.chr17:57292254T>G	25551			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=SMG8_HUMAN&rb=121&re=991&var=F956C	NA	getma.org/?cm=var&var=hg19,17,57292254,T,G&fts=all	F956C	--	--	1																																			1			probably_damaging(0.979)	p.F956C	NM_018149	NP_060619		deleterious(0)	1	SMG8_HUMAN	SMG8	HGNC	Q8ND04	SMG8_HUMAN					4	2909	+	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)		UPI000006CCB5	956					SNV	SMG8,missense_variant,p.Phe956Cys,ENST00000543872,;SMG8,missense_variant,p.Phe956Cys,ENST00000300917,NM_018149.6;CTD-2510F5.6,missense_variant,p.Phe75Cys,ENST00000577660,;SMG8,3_prime_UTR_variant,,ENST00000582469,;SMG8,downstream_gene_variant,,ENST00000578922,;SMG8,downstream_gene_variant,,ENST00000580498,;SMG8,downstream_gene_variant,,ENST00000580798,;	uc002ixi.2	c.2867T>G	2909/3263	4	4			c.2867T>G						17	SNP	c.(2866-2868)TTT>TGT	25	25				0	Broad	SMG8 protein			57292254		0.473	ENSG00000167447	1836	g.chr17:57292254T>G	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding							125.002695	KEEP	22	22	-1	74	54	22	22	-1	133.619886	74	54	0.25625	1	0	0	0	0	1	0	0	0	--	--		0	G				5	GBM-02-2470-TP	p.F956C	T	GTTTTGAGATTTCCTTATGCA	NM_018149	NP_060619	57292254	Q8ND04	SMG8_HUMAN	0			4	2909	+	G	G	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)		Missense_Mutation	956						
SMIM21	0	broad.mit.edu	GRCh37	18	73139434	73139434	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs142533881		TCGA-14-1823-01	TCGA-14-1823-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000579022.1:c.85C>T	p.Arg29Trp	p.R29W	ENST00000579022	NM_001037331.2	29	Cgg/Tgg	0	A:0	A:0.0008	1	A:0		A	R/W	uc002lma.1	protein_coding	YES	CCDS32845.1			85/306										0	c.(85-87)CGG>TGG				hypothetical protein LOC284274		A:0.004	A:0.0002	ENSP00000462106	A:0	3-Jan	0.000618	9.61E-05		0.00797		3.00E-05		0.000183	rs142533881,COSM3146730	3-Jan	common_variant		ENST00000579022	Transcript		A:0.0012		integral to membrane		ENSG00000206026	g.chr18:73139434G>A	27598			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CR062_HUMAN&rb=1&re=101&var=R29W	NA	getma.org/?cm=var&var=hg19,18,73139434,G,A&fts=all	R29W	--	--	1																																		C18orf62_uc010dqw.1_RNA|C18orf62_uc002lmb.1_RNA	0,1	1		benign(0.056)	p.R29W	NM_001037331	NP_001032408	A:0.001	tolerated_low_confidence(0.1)	0,1	SMI21_HUMAN	SMIM21	HGNC	Q3B7S5	CR062_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.21e-06)			1	156	-		Esophageal squamous(42;0.131)|Prostate(75;0.155)	UPI00001B64CE	29					SNV	SMIM21,missense_variant,p.Arg29Trp,ENST00000584508,;SMIM21,missense_variant,p.Arg29Trp,ENST00000579022,NM_001037331.2;SMIM21,missense_variant,p.Arg29Trp,ENST00000382638,;	uc002lma.1	c.85C>T	225/1834	2	2			c.85C>T						18	SNP	c.(85-87)CGG>TGG	32	32				0	Broad	hypothetical protein LOC284274			73139434		0.498	ENSG00000206026	1865	g.chr18:73139434G>A		integral to membrane								60.476192	KEEP	15	17	-1	101	67	15	17	-1	80.707015	101	67	0.166667	1	0	0	0	0	1	0	0	0	--	--		0	A			C18orf62_uc010dqw.1_RNA|C18orf62_uc002lmb.1_RNA	147	GBM-14-1823-TP	p.R29W	G	TTGAATATCCGTCCCATTCCT	NM_001037331	NP_001032408	73139434	Q3B7S5	CR062_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(15;6.21e-06)	1	156	-	A	A		Esophageal squamous(42;0.131)|Prostate(75;0.155)	Missense_Mutation	29						
SMO	0	broad.mit.edu	GRCh37	7	128843306	128843306	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01	TCGA-41-2572-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000249373.3:c.413G>A	p.Arg138Gln	p.R138Q	ENST00000249373	NM_005631.4	138	cGg/cAg	0			1			A	R/Q	uc003vor.2	protein_coding	YES	CCDS5811.1			413/2364	Mis				skin basal cell				skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37	c.(412-414)CGG>CAG			PROSITE_profiles:PS50038,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF35,Pfam_domain:PF01392,Gene3D:1ijyA00,SMART_domains:SM00063,Superfamily_domains:SSF63501	smoothened precursor				ENSP00000249373		12-Feb	4.96E-05		0.00261						rs752289293,COSM3411575	12-Feb	common_variant		ENST00000249373	Transcript			adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	ENSG00000128602	g.chr7:128843306G>A	11119			MODERATE		0.71	neutral	getma.org/?cm=msa&ty=f&p=SMO_HUMAN&rb=70&re=182&var=R138Q	getma.org/pdb.php?prot=SMO_HUMAN&from=70&to=182&var=R138Q	getma.org/?cm=var&var=hg19,7,128843306,G,A&fts=all	R138Q	--	--	1																																			0,1	1		benign(0.022)	p.R138Q	NM_005631	NP_005622		tolerated(0.65)	0,1	SMO_HUMAN	SMO	HGNC	Q99835	SMO_HUMAN			A4D1K5_HUMAN		2	693	+			UPI0000050447	138			FZ.|Extracellular (Potential).		SNV	SMO,missense_variant,p.Arg138Gln,ENST00000249373,NM_005631.4;SMO,upstream_gene_variant,,ENST00000462420,;SMO,upstream_gene_variant,,ENST00000495998,;	uc003vor.2	c.413G>A	693/3738	2	2			c.413G>A	Mis				skin basal cell	7	SNP	c.(412-414)CGG>CAG	21	21			skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37	Broad	smoothened precursor			128843306		0.672	ENSG00000128602	14571	g.chr7:128843306G>A	adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			232			232	2.204355	KEEP	1	2	-1	10	16	1	2	-1	6.493875	10	16	0.107143	1	0	0	0	0	1	0	0	0	--	--		0	A				251	GBM-41-2572-TP	p.R138Q	G	GAGAATGACCGGGTGGAGCTG	NM_005631	NP_005622	128843306	Q99835	SMO_HUMAN	0			2	693	+	A	A			Missense_Mutation	138			FZ.|Extracellular (Potential).			
SMOC2	0	broad.mit.edu	GRCh37	6	169064764	169064764	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-12-3652-01	TCGA-12-3652-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356284.2:c.1296T>C	p.Gly432=	p.G432=	ENST00000356284	NM_001166412.1	432	ggT/ggC	0			1			C	G	uc003qws.1	protein_coding		CCDS55076.1			1296/1341									ovary(1)	1	c.(1294-1296)GGT>GGC			hmmpanther:PTHR12352:SF11,hmmpanther:PTHR12352	SPARC related modular calcium binding 2				ENSP00000348630		13-Dec									COSM3410794,COSM3410795	13-Dec	.		ENST00000356284	Transcript	1		signal transduction	basement membrane	calcium ion binding	ENSG00000112562	g.chr6:169064764T>C	20323			LOW								--	--	1																																		SMOC2_uc003qwr.1_Silent_p.G443G|SMOC2_uc011egu.1_Silent_p.G109G	1,1				p.G432G	NM_022138	NP_071421			1,1	SMOC2_HUMAN	SMOC2	HGNC	Q9H3U7	SMOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)	B4DNB1_HUMAN		12	1316	+		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)	UPI00000421E5	432					SNV	SMOC2,synonymous_variant,p.=,ENST00000354536,NM_022138.2;SMOC2,synonymous_variant,p.=,ENST00000356284,NM_001166412.1;SMOC2,synonymous_variant,p.=,ENST00000417208,;SMOC2,non_coding_transcript_exon_variant,,ENST00000477998,;SMOC2,3_prime_UTR_variant,,ENST00000392100,;AL391319.1,upstream_gene_variant,,ENST00000535039,;	uc003qws.1	c.1296T>C	1516/3117	3	3			c.1296T>C						6	SNP	c.(1294-1296)GGT>GGC	55	55			ovary(1)	1	Broad	SPARC related modular calcium binding 2			169064764		0.299	ENSG00000112562	14573	g.chr6:169064764T>C	signal transduction	basement membrane	calcium ion binding							-7.931139	KEEP	1	3	-1	42	33	1	3	-1	6.914888	42	33	0.044776	1	0	0	0	0	0	0	1	0	--	--		0	C			SMOC2_uc003qwr.1_Silent_p.G443G|SMOC2_uc011egu.1_Silent_p.G109G	127	GBM-12-3652-TP	p.G432G	T	CCCCCAGAGGTCATGCTGAAA	NM_022138	NP_071421	169064764	Q9H3U7	SMOC2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)	12	1316	+	C	C		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)	Silent	432						
SMOX	0	broad.mit.edu	GRCh37	20	4162543	4162543	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01	TCGA-19-2623-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305958.4:c.529C>T	p.Arg177Cys	p.R177C	ENST00000305958	NM_175839.2	177	Cgt/Tgt	0			1			T	R/C	uc002wkm.1	protein_coding	YES	CCDS13075.1			529/1668									breast(1)	1	c.(529-531)CGT>TGT			hmmpanther:PTHR10742,hmmpanther:PTHR10742:SF44,Pfam_domain:PF01593,Superfamily_domains:SSF51905	spermine oxidase isoform 1	Spermine(DB00127)			ENSP00000307252		7-Apr	2.47E-05			0.000116		1.50E-05		6.06E-05	rs750147048,COSM3405093,COSM3405094	7-Apr	.		ENST00000305958	Transcript			polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	ENSG00000088826	g.chr20:4162543C>T	15862			MODERATE		1.83	low	getma.org/?cm=msa&ty=f&p=SMOX_HUMAN&rb=34&re=275&var=R177C	getma.org/pdb.php?prot=SMOX_HUMAN&from=34&to=275&var=R177C	getma.org/?cm=var&var=hg19,20,4162543,C,T&fts=all	R177C	--	--	1																																		SMOX_uc002wkk.1_Missense_Mutation_p.R177C|SMOX_uc002wkl.1_Missense_Mutation_p.R177C|SMOX_uc002wkn.1_Intron|SMOX_uc002wkp.2_Missense_Mutation_p.R177C|SMOX_uc010zqo.1_Missense_Mutation_p.R154C|SMOX_uc002wko.1_Missense_Mutation_p.R177C	0,1,1	1		probably_damaging(0.984)	p.R177C	NM_175839	NP_787033		tolerated(0.09)	0,1,1	SMOX_HUMAN	SMOX	HGNC	Q9NWM0	SMOX_HUMAN					4	730	+			UPI000006CE86	177					SNV	SMOX,missense_variant,p.Arg177Cys,ENST00000305958,NM_175839.2;SMOX,missense_variant,p.Arg177Cys,ENST00000379460,;SMOX,missense_variant,p.Arg177Cys,ENST00000278795,NM_175842.2,NM_001270691.1;SMOX,missense_variant,p.Arg177Cys,ENST00000339123,NM_175840.2;SMOX,missense_variant,p.Arg34Cys,ENST00000457205,;SMOX,intron_variant,,ENST00000346595,NM_175841.2;SMOX,non_coding_transcript_exon_variant,,ENST00000484515,;SMOX,non_coding_transcript_exon_variant,,ENST00000494098,;SMOX,upstream_gene_variant,,ENST00000486998,;SMOX,upstream_gene_variant,,ENST00000466004,;	uc002wkm.1	c.529C>T	754/2233	2	2			c.529C>T						20	SNP	c.(529-531)CGT>TGT	48	48			breast(1)	1	Broad	spermine oxidase isoform 1		Spermine(DB00127)	4162543		0.537	ENSG00000088826	14574	g.chr20:4162543C>T	polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity							134.162418	KEEP	17	34	-1	46	42	17	34	-1	136.322058	46	42	0.363636	1	0	0	0	0	1	0	0	0	--	--		0	T			SMOX_uc002wkk.1_Missense_Mutation_p.R177C|SMOX_uc002wkl.1_Missense_Mutation_p.R177C|SMOX_uc002wkn.1_Intron|SMOX_uc002wkp.2_Missense_Mutation_p.R177C|SMOX_uc010zqo.1_Missense_Mutation_p.R154C|SMOX_uc002wko.1_Missense_Mutation_p.R177C	163	GBM-19-2623-TP	p.R177C	C	AGAGGAGGTGCGTAACCGCAT	NM_175839	NP_787033	4162543	Q9NWM0	SMOX_HUMAN	0			4	730	+	T	T			Missense_Mutation	177						
SMPD2	6610	broad.mit.edu	GRCh37	6	109764877	109764877	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0648-01	TCGA-06-0648-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258052.3:c.1041A>G	p.Gly347=	p.G347=	ENST00000258052	NM_003080.2	347	ggA/ggG	0			1			G	G	uc003pti.2	protein_coding	YES	CCDS5075.1			1041/1272										0	c.(1039-1041)GGA>GGG			hmmpanther:PTHR12393,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	sphingomyelin phosphodiesterase 2, neutral				ENSP00000258052		10-Oct	0.000254	0.000561	0.000177		0.000488	0.000231			rs757511726,COSM3748314	10-Oct	common_variant		ENST00000258052	Transcript			induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	ENSG00000135587	g.chr6:109764877A>G	11121			LOW								--	--	1																																		PPIL6_uc003pth.1_5'Flank	0,1	1			p.G347G	NM_003080	NP_003071			0,1	NSMA_HUMAN	SMPD2	HGNC	O60906	NSMA_HUMAN		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)			10	1435	+		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	UPI000013CFAC	347			Helical; (Potential).		SNV	SMPD2,synonymous_variant,p.=,ENST00000258052,NM_003080.2;PPIL6,upstream_gene_variant,,ENST00000521072,NM_173672.4;PPIL6,upstream_gene_variant,,ENST00000424445,NM_001286360.1;MICAL1,downstream_gene_variant,,ENST00000368952,NM_001286613.1;MICAL1,downstream_gene_variant,,ENST00000358807,NM_022765.3;MICAL1,downstream_gene_variant,,ENST00000358577,NM_001159291.1;PPIL6,upstream_gene_variant,,ENST00000440797,NM_001111298.2;MICAL1,downstream_gene_variant,,ENST00000433205,;PPIL6,upstream_gene_variant,,ENST00000417394,;SMPD2,downstream_gene_variant,,ENST00000458487,;PPIL6,upstream_gene_variant,,ENST00000520723,;PPIL6,upstream_gene_variant,,ENST00000518648,;MICAL1,downstream_gene_variant,,ENST00000465904,;MICAL1,downstream_gene_variant,,ENST00000456101,;PPIL6,upstream_gene_variant,,ENST00000447468,;SMPD2,downstream_gene_variant,,ENST00000439615,;	uc003pti.2	c.1041A>G	1400/1645	3	3			c.1041A>G						6	SNP	c.(1039-1041)GGA>GGG	55	55				0	Broad	sphingomyelin phosphodiesterase 2, neutral			109764877		0.632	ENSG00000135587	14576	g.chr6:109764877A>G	induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity							4.404826	KEEP	10	16	-1	27	23	10	16	-1	7.904488	27	23	0.214286	1	0	0	0	0	0	0	1	0	--	--		0	G			PPIL6_uc003pth.1_5'Flank	61	GBM-06-0648-TP	p.G347G	A	TGGCGGCTGGAGGAGGGGCCG	NM_003080	NP_003071	109764877	O60906	NSMA_HUMAN	0		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)	10	1435	+	G	G		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	Silent	347			Helical; (Potential).			
SMR3B	0	broad.mit.edu	GRCh37	4	71255518	71255518	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01	TCGA-76-4928-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304915.3:c.193G>A	p.Ala65Thr	p.A65T	ENST00000304915	NM_006685.3	65	Gca/Aca	0			1			A	A/T	uc011cas.1	protein_coding	YES	CCDS3540.1			193/240									skin(1)	1	c.(193-195)GCA>ACA			Pfam_domain:PF15621,hmmpanther:PTHR14179,hmmpanther:PTHR14179:SF9,Low_complexity_(Seg):seg	submaxillary gland androgen regulated protein 3				ENSP00000302400		3-Mar	3.29E-05					3.00E-05		0.000121	rs769338737,COSM3409451	3-Mar	.		ENST00000304915	Transcript				extracellular space		ENSG00000171201	g.chr4:71255518G>A	17326			MODERATE								--	--	1																																		SMR3B_uc003hfh.2_Missense_Mutation_p.A65T	0,1	1		unknown(0)	p.A65T	NM_006685	NP_006676			0,1	SMR3B_HUMAN	SMR3B	HGNC	P02814	SMR3B_HUMAN					3	274	+		all_hematologic(202;0.196)	UPI0000132226	65			Poly-Pro.|Pro-rich.		SNV	SMR3B,missense_variant,p.Ala65Thr,ENST00000304915,NM_006685.3;SMR3B,missense_variant,p.Ala65Thr,ENST00000504825,;SMR3B,downstream_gene_variant,,ENST00000508027,;	uc011cas.1	c.193G>A	342/785	1	1			c.193G>A						4	SNP	c.(193-195)GCA>ACA	62	62			skin(1)	1	Broad	submaxillary gland androgen regulated protein 3			71255518		0.602	ENSG00000171201	14583	g.chr4:71255518G>A		extracellular space								132.446497	KEEP	36	34	-1	93	81	36	34	-1	141.927285	93	81	0.27619	1	0	0	0	0	1	0	0	0	--	--		0	A			SMR3B_uc003hfh.2_Missense_Mutation_p.A65T	268	GBM-76-4928-TP	p.A65T	G	TCCTCCTCCCGCACCCTATGG	NM_006685	NP_006676	71255518	P02814	SMR3B_HUMAN	0			3	274	+	A	A		all_hematologic(202;0.196)	Missense_Mutation	65			Poly-Pro.|Pro-rich.			
SMS	6611		GRCh37	X	21995314	21995314	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000404933.2:c.465G>A	p.Ser155=	p.S155=	ENST00000404933	NM_004595.4	155	tcG/tcA	0																																																																																																																																																																																																																																												
SMTN	0	broad.mit.edu	GRCh37	22	31492853	31492853	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2619-01	TCGA-19-2619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000347557.2:c.1996G>A	p.Val666Ile	p.V666I	ENST00000347557	NM_001207017.1	666	Gtt/Att	0			1			A	V/I	uc003ajl.1	protein_coding		CCDS13886.1			1996/2754									large_intestine(2)|pancreas(1)	3	c.(1996-1998)GTT>ATT			hmmpanther:PTHR11915:SF208,hmmpanther:PTHR11915	smoothelin isoform c				ENSP00000328635		14/20									COSM3405605,COSM3405604,COSM3405606	14/20	.		ENST00000347557	Transcript			muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	ENSG00000183963	g.chr22:31492853G>A	11126			MODERATE		0.915	low	getma.org/?cm=msa&ty=f&p=SMTN_HUMAN&rb=620&re=801&var=V666I	NA	getma.org/?cm=var&var=hg19,22,31492853,G,A&fts=all	V666I	--	--	1																																		SMTN_uc003ajk.1_Missense_Mutation_p.V666I|SMTN_uc003ajm.1_Missense_Mutation_p.V666I|SMTN_uc011ale.1_Missense_Mutation_p.V751I|SMTN_uc011alf.1_Missense_Mutation_p.V722I|SMTN_uc003ajn.1_Missense_Mutation_p.V689I|SMTN_uc011alg.1_Missense_Mutation_p.V122I|SMTN_uc003ajo.1_Intron|SMTN_uc011alh.1_RNA|SMTN_uc010gwe.1_Intron	1,1,1			benign(0.008)	p.V666I	NM_006932	NP_008863		tolerated(0.39)	1,1,1	SMTN_HUMAN	SMTN	HGNC	P53814	SMTN_HUMAN			C9JP19_HUMAN,C9JGQ0_HUMAN		14	2214	+			UPI000015FD9B	666					SNV	SMTN,missense_variant,p.Val666Ile,ENST00000333137,NM_001207018.1,NM_134269.2;SMTN,missense_variant,p.Val666Ile,ENST00000358743,NM_134270.2;SMTN,missense_variant,p.Val666Ile,ENST00000347557,NM_001207017.1,NM_006932.4;SMTN,intron_variant,,ENST00000404574,;SMTN,intron_variant,,ENST00000455608,;SMTN,non_coding_transcript_exon_variant,,ENST00000460658,;SMTN,non_coding_transcript_exon_variant,,ENST00000489337,;SMTN,non_coding_transcript_exon_variant,,ENST00000493335,;SMTN,upstream_gene_variant,,ENST00000472911,;	uc003ajl.1	c.1996G>A	2214/3130	2	2			c.1996G>A						22	SNP	c.(1996-1998)GTT>ATT	43	43			large_intestine(2)|pancreas(1)	3	Broad	smoothelin isoform c			31492853		0.682	ENSG00000183963	14585	g.chr22:31492853G>A	muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle							61.866389	KEEP	20	11	-1	45	34	20	11	-1	65.022749	45	34	0.292683	1	0	0	0	0	1	0	0	0	--	--		0	A			SMTN_uc003ajk.1_Missense_Mutation_p.V666I|SMTN_uc003ajm.1_Missense_Mutation_p.V666I|SMTN_uc011ale.1_Missense_Mutation_p.V751I|SMTN_uc011alf.1_Missense_Mutation_p.V722I|SMTN_uc003ajn.1_Missense_Mutation_p.V689I|SMTN_uc011alg.1_Missense_Mutation_p.V122I|SMTN_uc003ajo.1_Intron|SMTN_uc011alh.1_RNA|SMTN_uc010gwe.1_Intron	161	GBM-19-2619-TP	p.V666I	G	TGTCAGCACTGTTACCAAGAC	NM_006932	NP_008863	31492853	P53814	SMTN_HUMAN	0			14	2214	+	A	A			Missense_Mutation	666						
SMTNL1	219537	broad.mit.edu	GRCh37	11	57310651	57310651	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01	TCGA-06-0214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000457912.1:c.590C>T	p.Thr197Ile	p.T197I	ENST00000457912		197	aCa/aTa	0			1			T	T/I	uc009ymh.1	protein_coding					536/1374									ovary(1)	1	c.(589-591)ACA>ATA			hmmpanther:PTHR25069	smoothelin-like 1				ENSP00000382108		8-Jan									COSM3397880,COSM3397879	8-Jan	.		ENST00000399154	Transcript						ENSG00000214872	g.chr11:57310651C>T	32394			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=SMTL1_HUMAN&rb=101&re=302&var=T179I	NA	getma.org/?cm=var&var=hg19,11,57310651,C,T&fts=all	T179I	--	--	1																																			1,1			benign(0.006)	p.T197I	NM_001105565	NP_001099035		deleterious(0.01)	1,1	SMTL1_HUMAN	SMTNL1	HGNC	E9PPJ3	E9PPJ3_HUMAN					2	590	+			UPI00015E0022	179					SNV	SMTNL1,missense_variant,p.Thr197Ile,ENST00000457912,;SMTNL1,missense_variant,p.Thr179Ile,ENST00000399154,;SMTNL1,missense_variant,p.Thr179Ile,ENST00000527972,NM_001105565.2;	uc009ymh.1	c.590C>T	536/1897	2	2			c.590C>T						11	SNP	c.(589-591)ACA>ATA	20	20			ovary(1)	1	Broad	smoothelin-like 1			57310651		0.547	ENSG00000214872	14586	g.chr11:57310651C>T										43.650788	KEEP	12	7	-1	12	30	12	7	-1	45.58091	12	30	0.303571	1	0	0	0	0	1	0	0	0	--	--		0	T				50	GBM-06-0214-TP	p.T197I	C	CAGGAGGAGACAGGCCAGAGG	NM_001105565	NP_001099035	57310651	E9PPJ3	E9PPJ3_HUMAN	0			2	590	+	T	T			Missense_Mutation	179						
SMTNL1	0	broad.mit.edu	GRCh37	11	57314061	57314061	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-4211-01	TCGA-32-4211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399154.2:c.1165G>C	p.Asp389His	p.D389H	ENST00000399154		389	Gac/Cac	0			1			C	D/H	uc009ymh.1	protein_coding					1165/1374									ovary(1)	1	c.(1330-1332)GAC>CAC			PROSITE_profiles:PS50021,hmmpanther:PTHR25069,Pfam_domain:PF00307,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576	smoothelin-like 1				ENSP00000382108		8-Jul									COSM3397882,COSM3397881	8-Jul	.		ENST00000399154	Transcript						ENSG00000214872	g.chr11:57314061G>C	32394			MODERATE		3.53	high	getma.org/?cm=msa&ty=f&p=SMTL1_HUMAN&rb=344&re=447&var=D389H	getma.org/pdb.php?prot=SMTL1_HUMAN&from=344&to=447&var=D389H	getma.org/?cm=var&var=hg19,11,57314061,G,C&fts=all	D389H	--	--	1																																			1,1			probably_damaging(0.999)	p.D444H	NM_001105565	NP_001099035		deleterious(0)	1,1	SMTL1_HUMAN	SMTNL1	HGNC	E9PPJ3	E9PPJ3_HUMAN					7	1330	+			UPI00015E0022	426					SNV	SMTNL1,missense_variant,p.Asp444His,ENST00000457912,;SMTNL1,missense_variant,p.Asp389His,ENST00000399154,;SMTNL1,missense_variant,p.Asp426His,ENST00000527972,NM_001105565.2;	uc009ymh.1	c.1330G>C	1165/1897	3	3			c.1330G>C						11	SNP	c.(1330-1332)GAC>CAC	64	64			ovary(1)	1	Broad	smoothelin-like 1			57314061		0.587	ENSG00000214872	14586	g.chr11:57314061G>C										-15.46806	KEEP	3	0	-1	31	72	3	0	-1	8.493823	31	72	0.030303	1	0	0	0	0	1	0	0	0	--	--		0	C				246	GBM-32-4211-TP	p.D444H	G	TGACGCCTTTGACTACGCAGA	NM_001105565	NP_001099035	57314061	E9PPJ3	E9PPJ3_HUMAN	0			7	1330	+	C	C			Missense_Mutation	426						
SMTNL2	342527	broad.mit.edu	GRCh37	17	4496362	4496362	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0216-01	TCGA-06-0216-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389313.4:c.626G>A	p.Gly209Glu	p.G209E	ENST00000389313	NM_001114974.1	209	gGg/gAg	0			1			A	G/E	uc002fyf.1	protein_coding	YES	CCDS45583.1			626/1386										0	c.(625-627)GGG>GAG				smoothelin-like 2 isoform 1				ENSP00000373964		8-Mar									COSM3402955,COSM3402954	8-Mar	.		ENST00000389313	Transcript						ENSG00000188176	g.chr17:4496362G>A	24764			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=SMTL2_HUMAN&rb=36&re=318&var=G209E	NA	getma.org/?cm=var&var=hg19,17,4496362,G,A&fts=all	G209E	--	--	1																																		SMTNL2_uc002fye.2_Missense_Mutation_p.G65E	1,1	1		probably_damaging(1)	p.G209E	NM_001114974	NP_001108446		deleterious(0.03)	1,1	SMTL2_HUMAN	SMTNL2	HGNC	Q2TAL5	SMTL2_HUMAN		READ - Rectum adenocarcinoma(115;0.0325)			3	693	+			UPI0000200685	209					SNV	SMTNL2,missense_variant,p.Gly209Glu,ENST00000389313,NM_001114974.1;SMTNL2,missense_variant,p.Gly65Glu,ENST00000338859,NM_198501.2;SMTNL2,intron_variant,,ENST00000572951,;SMTNL2,upstream_gene_variant,,ENST00000570526,;	uc002fyf.1	c.626G>A	693/2280	1	1			c.626G>A						17	SNP	c.(625-627)GGG>GAG	54	54				0	Broad	smoothelin-like 2 isoform 1			4496362		0.657	ENSG00000188176	14587	g.chr17:4496362G>A										3.250164	KEEP	5	5	-1	54	43	5	5	-1	18.599398	54	43	0.088889	1	0	0	0	0	1	0	0	0	--	--		0	A			SMTNL2_uc002fye.2_Missense_Mutation_p.G65E	51	GBM-06-0216-TP	p.G209E	G	AGGTTCTCTGGGGAGACCTCA	NM_001114974	NP_001108446	4496362	Q2TAL5	SMTL2_HUMAN	0		READ - Rectum adenocarcinoma(115;0.0325)	3	693	+	A	A			Missense_Mutation	209						
SMURF1	0	broad.mit.edu	GRCh37	7	98636097	98636099	+	inframe_deletion	In_Frame_Del	DEL	GTT	GTT	-			TCGA-19-2629-01	TCGA-19-2629-01	GTT	GTT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361125.1:c.1678_1680delAAC	p.Asn560del	p.N560del	ENST00000361125	NM_020429.2	560	AAC/-	0			1			-	N/-	uc003upu.1	protein_coding	YES	CCDS34690.1			1678-1680/2274									skin(2)|ovary(1)|lung(1)	4	c.(1678-1680)AACdel			Gene3D:1c4zA02,Pfam_domain:PF00632,PIRSF_domain:PIRSF001569,PROSITE_profiles:PS50237,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF293,SMART_domains:SM00119,Superfamily_domains:SSF56204	Smad ubiquitination regulatory factor 1 isoform				ENSP00000354621		15/19										15/19	.		ENST00000361125	Transcript			BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	ENSG00000198742	g.chr7:98636097_98636099delGTT	16807			MODERATE								--	--	1																																		SMURF1_uc003upv.1_In_Frame_Del_p.N534del|SMURF1_uc003upt.2_In_Frame_Del_p.N534del		1			p.N560del	NM_020429	NP_065162				SMUF1_HUMAN	SMURF1	HGNC	Q9HCE7	SMUF1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)		D6W5S0_HUMAN		15	1998_2000	-	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		UPI00000015C4	560			HECT.		deletion	SMURF1,inframe_deletion,p.Asn560del,ENST00000361125,NM_020429.2;SMURF1,inframe_deletion,p.Asn534del,ENST00000361368,NM_001199847.1,NM_181349.2;AC004893.11,intron_variant,,ENST00000468960,;AC004893.11,downstream_gene_variant,,ENST00000360902,;	uc003upu.1	c.1678_1680delAAC	1998-2000/5737	5	5			c.1678_1680delAAC						7	DEL	c.(1678-1680)AACdel	3	3			skin(2)|ovary(1)|lung(1)	4	Broad	Smad ubiquitination regulatory factor 1 isoform			98636099		0.512	ENSG00000198742	14590	g.chr7:98636097_98636099delGTT	BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			444			444														0.1	1	1	0	1	0	0	0	0	0	--	--		0	-			SMURF1_uc003upv.1_In_Frame_Del_p.N534del|SMURF1_uc003upt.2_In_Frame_Del_p.N534del	166	GBM-19-2629-TP	p.N560del	GTT	GCCCGAAGGCGTTGTGTTCCACG	NM_020429	NP_065162	98636097	Q9HCE7	SMUF1_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)		15	1998_2000	-	-	-	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		In_Frame_Del	560			HECT.			
SMYD3	64754	broad.mit.edu	GRCh37	1	246027126	246027126	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0745-01	TCGA-06-0745-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388985.4:c.876A>C	p.Lys292Asn	p.K292N	ENST00000388985		292	aaA/aaC	0			1			G	K/N	uc001ibl.2	protein_coding		CCDS31083.1			699/1110										0	c.(874-876)AAA>AAC			hmmpanther:PTHR12197,hmmpanther:PTHR12197:SF146	SET and MYND domain containing 3				ENSP00000419184		12-Sep									COSM2151720,COSM2151719	12-Sep	.		ENST00000490107	Transcript				cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	ENSG00000185420	g.chr1:246027126T>G	15513			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=SMYD3_HUMAN&rb=241&re=428&var=K292N	getma.org/pdb.php?prot=SMYD3_HUMAN&from=241&to=428&var=K292N	getma.org/?cm=var&var=hg19,1,246027126,T,G&fts=all	K292N	--	--	1																																		SMYD3_uc001ibk.2_Missense_Mutation_p.K233N|SMYD3_uc001ibi.2_Missense_Mutation_p.K103N|SMYD3_uc001ibj.2_Missense_Mutation_p.K103N	1,1			benign(0.003)	p.K292N	NM_022743	NP_073580		tolerated(0.11)	1,1	SMYD3_HUMAN	SMYD3	HGNC	Q9H7B4	SMYD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)	B3KN46_HUMAN,B0QZA0_HUMAN,B0QZ99_HUMAN,A8MXR1_HUMAN		9	971	-	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	UPI000007078E	292					SNV	SMYD3,missense_variant,p.Lys233Asn,ENST00000490107,NM_001167740.1;SMYD3,missense_variant,p.Lys233Asn,ENST00000541742,NM_022743.2;SMYD3,missense_variant,p.Lys292Asn,ENST00000388985,;SMYD3,missense_variant,p.Lys103Asn,ENST00000391836,;SMYD3,non_coding_transcript_exon_variant,,ENST00000366517,;SMYD3,non_coding_transcript_exon_variant,,ENST00000470510,;SMYD3,non_coding_transcript_exon_variant,,ENST00000493441,;SMYD3,non_coding_transcript_exon_variant,,ENST00000488153,;SMYD3,non_coding_transcript_exon_variant,,ENST00000492487,;SMYD3,non_coding_transcript_exon_variant,,ENST00000464398,;SMYD3,non_coding_transcript_exon_variant,,ENST00000366516,;	uc001ibl.2	c.876A>C	916/1548	3	3			c.876A>C						1	SNP	c.(874-876)AAA>AAC	61	61				0	Broad	SET and MYND domain containing 3			246027126		0.358	ENSG00000185420	14594	g.chr1:246027126T>G		cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding							116.871609	KEEP	23	16	-1	21	33	23	16	-1	117.21232	21	33	0.428571	1	0	0	0	0	1	0	0	0	--	--		0	G			SMYD3_uc001ibk.2_Missense_Mutation_p.K233N|SMYD3_uc001ibi.2_Missense_Mutation_p.K103N|SMYD3_uc001ibj.2_Missense_Mutation_p.K103N	67	GBM-06-0745-TP	p.K292N	T	GTTCTTCAATTTTTTTCAGGG	NM_022743	NP_073580	246027126	Q9H7B4	SMYD3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)	9	971	-	G	G	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	Missense_Mutation	292						
SMYD3	64754		GRCh37	1	246078867	246078867	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000388985.4:c.778G>T	p.Glu260Ter	p.E260*	ENST00000388985		260	Gaa/Taa	0																																																																																																																																																																																																																																												
SMYD5	0	broad.mit.edu	GRCh37	2	73453009	73453011	+	inframe_deletion	In_Frame_Del	DEL	GAG	GAG	-			TCGA-19-5959-01	TCGA-19-5959-01	GAG	GAG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389501.4:c.1206_1208delGGA	p.Glu403del	p.E403del	ENST00000389501	NM_006062.2	398	GAG/-	0			1			-	E/-	uc002siw.2	protein_coding	YES	CCDS33221.2			1192-1194/1257										0	c.(1192-1194)GAGdel			Low_complexity_(Seg):seg,hmmpanther:PTHR12197,hmmpanther:PTHR12197:SF153	SMYD family member 5				ENSP00000374152		13/13									rs774404048	13/13	.		ENST00000389501	Transcript					metal ion binding	ENSG00000135632	g.chr2:73453009_73453011delGAG	16258	14		MODERATE								--	--	1																																		SMYD5_uc010yre.1_In_Frame_Del_p.E287del|SMYD5_uc002six.1_RNA		1			p.E403del	NM_006062	NP_006053				SMYD5_HUMAN	SMYD5	HGNC	Q6GMV2	SMYD5_HUMAN			B4DUT1_HUMAN		13	1221_1223	+			UPI0000161654	403			Glu-rich.		deletion	SMYD5,inframe_deletion,p.Glu403del,ENST00000389501,NM_006062.2;PRADC1,downstream_gene_variant,,ENST00000258083,NM_032319.1;SMYD5,downstream_gene_variant,,ENST00000443900,;SMYD5,non_coding_transcript_exon_variant,,ENST00000486518,;SMYD5,downstream_gene_variant,,ENST00000474652,;PRADC1,downstream_gene_variant,,ENST00000480093,;SMYD5,downstream_gene_variant,,ENST00000258100,;SMYD5,downstream_gene_variant,,ENST00000413491,;PRADC1,downstream_gene_variant,,ENST00000470391,;SMYD5,downstream_gene_variant,,ENST00000477038,;	uc002siw.2	c.1192_1194delGAG	1237-1239/2593	5	5			c.1192_1194delGAG						2	DEL	c.(1192-1194)GAGdel	17	17				0	Broad	SMYD family member 5			73453011		0.468	ENSG00000135632	14596	g.chr2:73453009_73453011delGAG			metal ion binding																				0.41	1	1	0	1	0	0	0	0	0	--	--		0	-			SMYD5_uc010yre.1_In_Frame_Del_p.E287del|SMYD5_uc002six.1_RNA	177	GBM-19-5959-TP	p.E403del	GAG	ggaagaggaagaggaggaggagg	NM_006062	NP_006053	73453009	Q6GMV2	SMYD5_HUMAN	0			13	1221_1223	+	-	-			In_Frame_Del	403			Glu-rich.			
SMYD5	0	broad.mit.edu	GRCh37	2	73449902	73449902	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs116053390	by1000genomes	TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389501.4:c.662G>A	p.Arg221Gln	p.R221Q	ENST00000389501	NM_006062.2	221	cGg/cAg	0	A:0	A:0	1	A:0		A	R/Q	uc002siw.2	protein_coding	YES	CCDS33221.2			662/1257										0	c.(661-663)CGG>CAG			PROSITE_profiles:PS50280,hmmpanther:PTHR12197,hmmpanther:PTHR12197:SF153,Pfam_domain:PF00856,SMART_domains:SM00317	SMYD family member 5		A:0	A:0.0003	ENSP00000374152	A:0.001	13-Jul	4.94E-05					0.000105			rs116053390,COSM3407970,COSM3407969	13-Jul	.		ENST00000389501	Transcript		A:0.0002			metal ion binding	ENSG00000135632	g.chr2:73449902G>A	16258			MODERATE		1.32	low	getma.org/?cm=msa&ty=f&p=SMYD5_HUMAN&rb=33&re=352&var=R221Q	getma.org/pdb.php?prot=SMYD5_HUMAN&from=33&to=352&var=R221Q	getma.org/?cm=var&var=hg19,2,73449902,G,A&fts=all	R221Q	--	--	1																																		SMYD5_uc010yre.1_Missense_Mutation_p.R105Q|SMYD5_uc002six.1_RNA	0,1,1	1		benign(0.088)	p.R221Q	NM_006062	NP_006053	A:0	tolerated(0.11)	0,1,1	SMYD5_HUMAN	SMYD5	HGNC	Q6GMV2	SMYD5_HUMAN			B4DUT1_HUMAN		7	691	+			UPI0000161654	221					SNV	SMYD5,missense_variant,p.Arg221Gln,ENST00000389501,NM_006062.2;SMYD5,downstream_gene_variant,,ENST00000443900,;SMYD5,downstream_gene_variant,,ENST00000474652,;SMYD5,upstream_gene_variant,,ENST00000486518,;SMYD5,downstream_gene_variant,,ENST00000491204,;SMYD5,3_prime_UTR_variant,,ENST00000258100,;SMYD5,non_coding_transcript_exon_variant,,ENST00000477038,;SMYD5,downstream_gene_variant,,ENST00000413491,;	uc002siw.2	c.662G>A	707/2593	1	1			c.662G>A						2	SNP	c.(661-663)CGG>CAG	53	53				0	Broad	SMYD family member 5			73449902		0.592	ENSG00000135632	14596	g.chr2:73449902G>A			metal ion binding							8.084508	KEEP	1	4	-1	10	14	1	4	-1	10.835743	10	14	0.16	1	0	0	0	0	1	0	0	0	--	--		0	A			SMYD5_uc010yre.1_Missense_Mutation_p.R105Q|SMYD5_uc002six.1_RNA	235	GBM-32-2491-TP	p.R221Q	G	GAACTTCTGCGGAGACTCTTC	NM_006062	NP_006053	73449902	Q6GMV2	SMYD5_HUMAN	0			7	691	+	A	A			Missense_Mutation	221						
SNAI2	0	broad.mit.edu	GRCh37	8	49832679	49832679	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-6701-01	TCGA-06-6701-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000020945.1:c.401A>G	p.Asn134Ser	p.N134S	ENST00000020945	NM_003068.4	134	aAt/aGt	0		C:0	1	C:0		C	N/S	uc003xqp.2	protein_coding		CCDS6146.1			401/807								p.N134D(1)	ovary(2)	2	c.(400-402)AAT>AGT			Pfam_domain:PF13912,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF400,SMART_domains:SM00355,Superfamily_domains:SSF57667	snail 2		C:0.001		ENSP00000020945	C:0	3-Feb	2.47E-05			0.000347					rs200799419,COSM1457390	3-Feb	.		ENST00000020945	Transcript	1	C:0.0002	canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000019549	g.chr8:49832679T>C	11094			MODERATE		0.23	neutral	getma.org/?cm=msa&ty=f&p=SNAI2_HUMAN&rb=107&re=173&var=N134S	NA	getma.org/?cm=var&var=hg19,8,49832679,T,C&fts=all	N134S	--	--	1																																			0,1			benign(0.004)	p.N134S	NM_003068	NP_003059	C:0	tolerated(0.69)	0,1	SNAI2_HUMAN	SNAI2	HGNC	O43623	SNAI2_HUMAN					2	565	-		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)	UPI0000135A3A	134			C2H2-type 1.		SNV	SNAI2,missense_variant,p.Asn134Ser,ENST00000396822,;SNAI2,missense_variant,p.Asn134Ser,ENST00000020945,NM_003068.4;	uc003xqp.2	c.401A>G	565/2088	3	3			c.401A>G						8	SNP	c.(400-402)AAT>AGT	57	57		p.N134D(1)	ovary(2)	2	Broad	snail 2			49832679		0.438	ENSG00000019549	14598	g.chr8:49832679T>C	canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							196.566127	KEEP	36	25	-1	35	48	36	25	-1	197.155402	35	48	0.428571	1	0	0	0	0	1	0	0	0	--	--		0	C				115	GBM-06-6701-TP	p.N134S	T	ATAGGTCTTATTGCATAAATT	NM_003068	NP_003059	49832679	O43623	SNAI2_HUMAN	0			2	565	-	C	C		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)	Missense_Mutation	134			C2H2-type 1.			
SNAI2	0	broad.mit.edu	GRCh37	8	49831516	49831516	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-14-1823-01	TCGA-14-1823-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000020945.1:c.657C>A	p.Asn219Lys	p.N219K	ENST00000020945	NM_003068.4	219	aaC/aaA	0			1			T	N/K	uc003xqp.2	protein_coding		CCDS6146.1			657/807									ovary(2)	2	c.(655-657)AAC>AAA			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF400,SMART_domains:SM00355,Superfamily_domains:SSF57667	snail 2				ENSP00000020945		3-Mar									COSM3413047	3-Mar	.		ENST00000020945	Transcript	1		canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000019549	g.chr8:49831516G>T	11094			MODERATE		0.445	neutral	getma.org/?cm=msa&ty=f&p=SNAI2_HUMAN&rb=179&re=244&var=N219K	getma.org/pdb.php?prot=SNAI2_HUMAN&from=199&to=224&var=N219K	getma.org/?cm=var&var=hg19,8,49831516,G,T&fts=all	N219K	--	--	1																																			1			benign(0.005)	p.N219K	NM_003068	NP_003059		deleterious(0.01)	1	SNAI2_HUMAN	SNAI2	HGNC	O43623	SNAI2_HUMAN					3	821	-		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)	UPI0000135A3A	219			C2H2-type 4.		SNV	SNAI2,missense_variant,p.Asn219Lys,ENST00000396822,;SNAI2,missense_variant,p.Asn219Lys,ENST00000020945,NM_003068.4;RP11-22C8.1,downstream_gene_variant,,ENST00000522657,;RP11-22C8.1,downstream_gene_variant,,ENST00000438521,;	uc003xqp.2	c.657C>A	821/2088	2	2			c.657C>A						8	SNP	c.(655-657)AAC>AAA	30	30			ovary(2)	2	Broad	snail 2			49831516		0.433	ENSG00000019549	14598	g.chr8:49831516G>T	canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							27.653186	KEEP	12	5	0.705882353	58	32	12	5	0.705882353	39.863175	58	32	0.147059	1	0	0	0	0	1	0	0	0	--	--		0	T				147	GBM-14-1823-TP	p.N219K	G	CAAATGCTCTGTTGCAGTGAG	NM_003068	NP_003059	49831516	O43623	SNAI2_HUMAN	0			3	821	-	T	T		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)	Missense_Mutation	219			C2H2-type 4.			
SNAP91	9892	broad.mit.edu	GRCh37	6	84292053	84292053	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000439399.2:c.2037G>A	p.Ala679=	p.A679=	ENST00000439399	NM_014841.2	679	gcG/gcA	0		T:0	1	T:0		T	A	uc011dze.1	protein_coding		CCDS47455.1			2037/2724									ovary(1)	1	c.(2035-2037)GCG>GCA			hmmpanther:PTHR22951,hmmpanther:PTHR22951:SF4	synaptosomal-associated protein, 91kDa homolog		T:0.001		ENSP00000358708	T:0	23/30	9.10E-05					9.28E-05		0.000246	rs202058742,COSM3411318,COSM3411317	23/30	.		ENST00000369694	Transcript		T:0.0002	clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	ENSG00000065609	g.chr6:84292053C>T	14986			LOW								--	--	1																																		SNAP91_uc011dzd.1_Silent_p.A182A|SNAP91_uc003pkb.2_Silent_p.A588A|SNAP91_uc003pkc.2_Silent_p.A649A|SNAP91_uc003pkd.2_Silent_p.A372A|SNAP91_uc003pka.2_Silent_p.A677A	0,1,1				p.A679A	NM_014841	NP_055656	T:0		0,1,1	AP180_HUMAN	SNAP91	HGNC	O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	E5RK53_HUMAN,E5RK51_HUMAN,E5RJY3_HUMAN,E5RIJ5_HUMAN,E5RFU0_HUMAN,E5RFC6_HUMAN,B7Z2C2_HUMAN		22	2354	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	UPI0000124FB3	679					SNV	SNAP91,synonymous_variant,p.=,ENST00000428679,;SNAP91,synonymous_variant,p.=,ENST00000521485,;SNAP91,synonymous_variant,p.=,ENST00000439399,NM_014841.2;SNAP91,synonymous_variant,p.=,ENST00000369694,NM_001242792.1;SNAP91,synonymous_variant,p.=,ENST00000195649,NM_001256718.1;SNAP91,synonymous_variant,p.=,ENST00000521743,;SNAP91,synonymous_variant,p.=,ENST00000520302,NM_001256717.1,NM_001242793.1;SNAP91,synonymous_variant,p.=,ENST00000437520,NM_001242794.1;SNAP91,synonymous_variant,p.=,ENST00000520213,;SNAP91,synonymous_variant,p.=,ENST00000521931,;SNAP91,synonymous_variant,p.=,ENST00000523448,;SNAP91,upstream_gene_variant,,ENST00000519133,;SNAP91,3_prime_UTR_variant,,ENST00000518312,;SNAP91,3_prime_UTR_variant,,ENST00000521616,;	uc011dze.1	c.2037G>A	2351/4449	2	2			c.2037G>A						6	SNP	c.(2035-2037)GCG>GCA	48	48			ovary(1)	1	Broad	synaptosomal-associated protein, 91kDa homolog			84292053		0.433	ENSG00000065609	14604	g.chr6:84292053C>T	clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding							44.012394	KEEP	10	5	-1	12	17	10	5	-1	44.99624	12	17	0.340909	1	0	0	0	0	0	0	1	0	--	--		0	T			SNAP91_uc011dzd.1_Silent_p.A182A|SNAP91_uc003pkb.2_Silent_p.A588A|SNAP91_uc003pkc.2_Silent_p.A649A|SNAP91_uc003pkd.2_Silent_p.A372A|SNAP91_uc003pka.2_Silent_p.A677A	46	GBM-06-0209-TP	p.A679A	C	ATGGGGAAGGCGCCATGAAAG	NM_014841	NP_055656	84292053	O60641	AP180_HUMAN	0		BRCA - Breast invasive adenocarcinoma(397;0.0967)	22	2354	-	T	T		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	Silent	679						
SNAP91	9892	broad.mit.edu	GRCh37	6	84284736	84284736	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2561-01	TCGA-06-2561-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000439399.2:c.2435C>T	p.Ala812Val	p.A812V	ENST00000439399	NM_014841.2	812	gCa/gTa	0			1			A	A/V	uc011dze.1	protein_coding		CCDS47455.1			2435/2724									ovary(1)	1	c.(2434-2436)GCA>GTA			hmmpanther:PTHR22951,hmmpanther:PTHR22951:SF4	synaptosomal-associated protein, 91kDa homolog				ENSP00000358708		26/30									COSM3411316,COSM3411315	26/30	.		ENST00000369694	Transcript			clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	ENSG00000065609	g.chr6:84284736G>A	14986			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=AP180_HUMAN&rb=297&re=905&var=A812V	NA	getma.org/?cm=var&var=hg19,6,84284736,G,A&fts=all	A812V	--	--	1																																		SNAP91_uc011dzd.1_Missense_Mutation_p.A310V|SNAP91_uc003pkb.2_Missense_Mutation_p.A721V|SNAP91_uc003pkc.2_Missense_Mutation_p.A782V|SNAP91_uc003pkd.2_Missense_Mutation_p.A505V|SNAP91_uc003pka.2_Missense_Mutation_p.A810V	1,1			possibly_damaging(0.878)	p.A812V	NM_014841	NP_055656		tolerated(0.14)	1,1	AP180_HUMAN	SNAP91	HGNC	O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	E5RK53_HUMAN,E5RK51_HUMAN,E5RJY3_HUMAN,E5RIJ5_HUMAN,E5RFU0_HUMAN,E5RFC6_HUMAN,B7Z2C2_HUMAN		25	2752	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	UPI0000124FB3	812			Pro-rich.		SNV	SNAP91,missense_variant,p.Ala812Val,ENST00000428679,;SNAP91,missense_variant,p.Ala807Val,ENST00000521485,;SNAP91,missense_variant,p.Ala812Val,ENST00000439399,NM_014841.2;SNAP91,missense_variant,p.Ala812Val,ENST00000369694,NM_001242792.1;SNAP91,missense_variant,p.Ala807Val,ENST00000195649,NM_001256718.1;SNAP91,missense_variant,p.Ala812Val,ENST00000521743,;SNAP91,missense_variant,p.Ala782Val,ENST00000520302,NM_001256717.1,NM_001242793.1;SNAP91,missense_variant,p.Ala505Val,ENST00000437520,NM_001242794.1;SNAP91,missense_variant,p.Ala505Val,ENST00000520213,;SNAP91,missense_variant,p.Ala153Val,ENST00000523448,;SNAP91,downstream_gene_variant,,ENST00000521931,;SNAP91,downstream_gene_variant,,ENST00000519133,;SNAP91,3_prime_UTR_variant,,ENST00000518312,;SNAP91,3_prime_UTR_variant,,ENST00000521616,;	uc011dze.1	c.2435C>T	2749/4449	2	2			c.2435C>T						6	SNP	c.(2434-2436)GCA>GTA	20	20			ovary(1)	1	Broad	synaptosomal-associated protein, 91kDa homolog			84284736		0.522	ENSG00000065609	14604	g.chr6:84284736G>A	clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding							16.648151	KEEP	4	2	-1	0	7	4	2	-1	16.648151	0	7	0.5	1	0	0	0	0	1	0	0	0	--	--		0	A			SNAP91_uc011dzd.1_Missense_Mutation_p.A310V|SNAP91_uc003pkb.2_Missense_Mutation_p.A721V|SNAP91_uc003pkc.2_Missense_Mutation_p.A782V|SNAP91_uc003pkd.2_Missense_Mutation_p.A505V|SNAP91_uc003pka.2_Missense_Mutation_p.A810V	84	GBM-06-2561-TP	p.A812V	G	TACCAAAGGTGCACTTGGTGG	NM_014841	NP_055656	84284736	O60641	AP180_HUMAN	0		BRCA - Breast invasive adenocarcinoma(397;0.0967)	25	2752	-	A	A		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	Missense_Mutation	812			Pro-rich.			
SNAP91	0	broad.mit.edu	GRCh37	6	84303343	84303343	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-19-2631-01	TCGA-19-2631-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369694.2:c.1550C>G	p.Pro517Arg	p.P517R	ENST00000369694	NM_001242792.1	517	cCa/cGa	0			1			C	P/R	uc011dze.1	protein_coding		CCDS47455.1			1550/2724									ovary(1)	1	c.(1549-1551)CCA>CGA			Low_complexity_(Seg):seg,hmmpanther:PTHR22951,hmmpanther:PTHR22951:SF4	synaptosomal-associated protein, 91kDa homolog				ENSP00000358708		18/30									COSM3411322,COSM3411321	18/30	.		ENST00000369694	Transcript			clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	ENSG00000065609	g.chr6:84303343G>C	14986			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=AP180_HUMAN&rb=297&re=905&var=P517R	NA	getma.org/?cm=var&var=hg19,6,84303343,G,C&fts=all	P517R	--	--	1																																		SNAP91_uc011dzd.1_Missense_Mutation_p.P20R|SNAP91_uc003pkb.2_Missense_Mutation_p.P480R|SNAP91_uc003pkc.2_Missense_Mutation_p.P515R|SNAP91_uc003pkd.2_Intron|SNAP91_uc003pka.2_Missense_Mutation_p.P515R	1,1			possibly_damaging(0.804)	p.P517R	NM_014841	NP_055656		deleterious(0.01)	1,1	AP180_HUMAN	SNAP91	HGNC	O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	E5RK53_HUMAN,E5RK51_HUMAN,E5RJY3_HUMAN,E5RIJ5_HUMAN,E5RFU0_HUMAN,E5RFC6_HUMAN,B7Z2C2_HUMAN		17	1867	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	UPI0000124FB3	517			Ala-rich.		SNV	SNAP91,missense_variant,p.Pro517Arg,ENST00000428679,;SNAP91,missense_variant,p.Pro517Arg,ENST00000521485,;SNAP91,missense_variant,p.Pro517Arg,ENST00000439399,NM_014841.2;SNAP91,missense_variant,p.Pro517Arg,ENST00000369694,NM_001242792.1;SNAP91,missense_variant,p.Pro517Arg,ENST00000195649,NM_001256718.1;SNAP91,missense_variant,p.Pro517Arg,ENST00000521743,;SNAP91,missense_variant,p.Pro515Arg,ENST00000520302,NM_001256717.1,NM_001242793.1;SNAP91,missense_variant,p.Pro134Arg,ENST00000369691,;SNAP91,intron_variant,,ENST00000437520,NM_001242794.1;SNAP91,intron_variant,,ENST00000520213,;SNAP91,intron_variant,,ENST00000521931,;SNAP91,upstream_gene_variant,,ENST00000523448,;SNAP91,3_prime_UTR_variant,,ENST00000518312,;SNAP91,3_prime_UTR_variant,,ENST00000521616,;SNAP91,downstream_gene_variant,,ENST00000523780,;	uc011dze.1	c.1550C>G	1864/4449	3	3			c.1550C>G						6	SNP	c.(1549-1551)CCA>CGA	56	56			ovary(1)	1	Broad	synaptosomal-associated protein, 91kDa homolog			84303343		0.313	ENSG00000065609	14604	g.chr6:84303343G>C	clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding							2.933917	KEEP	2	0	-1	11	18	2	0	-1	6.386299	11	18	0.095238	1	0	0	0	0	1	0	0	0	--	--		0	C			SNAP91_uc011dzd.1_Missense_Mutation_p.P20R|SNAP91_uc003pkb.2_Missense_Mutation_p.P480R|SNAP91_uc003pkc.2_Missense_Mutation_p.P515R|SNAP91_uc003pkd.2_Intron|SNAP91_uc003pka.2_Missense_Mutation_p.P515R	167	GBM-19-2631-TP	p.P517R	G	TGCGGGAACTGGAGGGGCTGT	NM_014841	NP_055656	84303343	O60641	AP180_HUMAN	0		BRCA - Breast invasive adenocarcinoma(397;0.0967)	17	1867	-	C	C		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	Missense_Mutation	517			Ala-rich.			
SNAP91	9892		GRCh37	6	84302667	84302667	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000439399.2:c.1844C>A	p.Ser615Tyr	p.S615Y	ENST00000439399	NM_014841.2	615	tCt/tAt	0																																																																																																																																																																																																																																												
SNAPC4	0	broad.mit.edu	GRCh37	9	139282191	139282192	+	splice_region_variant,intron_variant	Splice_Region	INS	-	-	A			TCGA-14-0790-01	TCGA-14-0790-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298532.2:c.1230+2dupT		p.X410_splice	ENST00000298532	NM_003086.2			0			1			A		uc004chh.2	protein_coding	YES	CCDS6998.1			-/4410										0	c.e11+1				small nuclear RNA activating complex,				ENSP00000298532													.		ENST00000298532	Transcript			snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000165684	g.chr9:139282191_139282192insA	11137			LOW	22-Nov							--	--	1																																				1			p.A410_splice	NM_003086	NP_003077				SNPC4_HUMAN	SNAPC4	HGNC	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)			11	1239	-		Myeloproliferative disorder(178;0.0511)	UPI000013E4EC						insertion	SNAPC4,splice_region_variant,,ENST00000298532,NM_003086.2;	uc004chh.2	c.1230_splice	-/5010	5	5			c.1230_splice						9	INS	c.e11+1	28	28				0	Broad	small nuclear RNA activating complex,			139282192		0.579	ENSG00000165684	14608	g.chr9:139282191_139282192insA	snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity																				0.48	1	0	0	1	1	0	0	0	1	--	--		0	A				137	GBM-14-0790-TP	p.A410_splice	-	CCCGCACACTTACAGCATCTTC	NM_003086	NP_003077	139282191	Q5SXM2	SNPC4_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	11	1239	-	A	A		Myeloproliferative disorder(178;0.0511)	Splice_Site							
SND1	27044	broad.mit.edu	GRCh37	7	127334947	127334948	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-06-5412-01	TCGA-06-5412-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354725.3:c.295dup	p.Ile99AsnfsTer44	p.I99Nfs*44	ENST00000354725	NM_014390.2	98	-/A	0			1			A	-/X	uc003vmi.2	protein_coding	YES	CCDS34747.1			294-295/2733									ovary(2)|central_nervous_system(1)	3	c.(292-297)ACGATAfs			PROSITE_profiles:PS50830,hmmpanther:PTHR12302:SF2,hmmpanther:PTHR12302,Pfam_domain:PF00565,Gene3D:2.40.50.90,PIRSF_domain:PIRSF017179,SMART_domains:SM00318,Superfamily_domains:0047647	staphylococcal nuclease domain containing 1				ENSP00000346762		24-Mar										24-Mar	.		ENST00000354725	Transcript			gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	ENSG00000197157	g.chr7:127334947_127334948insA	30646	1		HIGH								--	--	1																																				1			p.T98fs	NM_014390	NP_055205				SND1_HUMAN	SND1	HGNC	Q7KZF4	SND1_HUMAN			B2R5U1_HUMAN		3	520_521	+			UPI00000727E5	98_99			TNase-like 1.		insertion	SND1,frameshift_variant,p.Ile99AsnfsTer44,ENST00000354725,NM_014390.2;SND1,non_coding_transcript_exon_variant,,ENST00000483503,;SND1,non_coding_transcript_exon_variant,,ENST00000461056,;SND1,non_coding_transcript_exon_variant,,ENST00000492772,;SND1,non_coding_transcript_exon_variant,,ENST00000468621,;	uc003vmi.2	c.294_295insA	488-489/3476	5	5			c.294_295insA						7	INS	c.(292-297)ACGATAfs	11	11			ovary(2)|central_nervous_system(1)	3	Broad	staphylococcal nuclease domain containing 1			127334948		0.465	ENSG00000197157	14615	g.chr7:127334947_127334948insA	gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity																				0.09	1	0	0	1	1	0	0	0	0	--	--		0	A				95	GBM-06-5412-TP	p.T98fs	-	TCTGTTTCACGATAGAAAACAA	NM_014390	NP_055205	127334947	Q7KZF4	SND1_HUMAN	0			3	520_521	+	A	A			Frame_Shift_Ins	98_99			TNase-like 1.			
SND1	0	broad.mit.edu	GRCh37	7	127724820	127724820	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-2629-01	TCGA-19-2629-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354725.3:c.2155G>T	p.Ala719Ser	p.A719S	ENST00000354725	NM_014390.2	719	Gcc/Tcc	0			1			T	A/S	uc003vmi.2	protein_coding	YES	CCDS34747.1			2155/2733									ovary(2)|central_nervous_system(1)	3	c.(2155-2157)GCC>TCC			hmmpanther:PTHR12302:SF2,hmmpanther:PTHR12302,Pfam_domain:PF00567,Gene3D:2.30.30.140,PIRSF_domain:PIRSF017179,Superfamily_domains:SSF63748	staphylococcal nuclease domain containing 1				ENSP00000346762		19/24									COSM599068	19/24	.		ENST00000354725	Transcript			gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	ENSG00000197157	g.chr7:127724820G>T	30646			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=SND1_HUMAN&rb=677&re=799&var=A719S	getma.org/pdb.php?prot=SND1_HUMAN&from=677&to=799&var=A719S	getma.org/?cm=var&var=hg19,7,127724820,G,T&fts=all	A719S	--	--	1																																		SND1_uc010lle.2_Missense_Mutation_p.A372S	1	1		benign(0.025)	p.A719S	NM_014390	NP_055205		tolerated(0.68)	1	SND1_HUMAN	SND1	HGNC	Q7KZF4	SND1_HUMAN			B2R5U1_HUMAN		19	2381	+			UPI00000727E5	719					SNV	SND1,missense_variant,p.Ala719Ser,ENST00000354725,NM_014390.2;SND1,missense_variant,p.Ala205Ser,ENST00000486037,;MIR593,downstream_gene_variant,,ENST00000384856,;SND1,upstream_gene_variant,,ENST00000485871,;SND1,downstream_gene_variant,,ENST00000470723,;SND1,downstream_gene_variant,,ENST00000470463,;SND1,upstream_gene_variant,,ENST00000489417,;	uc003vmi.2	c.2155G>T	2349/3476	2	2			c.2155G>T						7	SNP	c.(2155-2157)GCC>TCC	20	20			ovary(2)|central_nervous_system(1)	3	Broad	staphylococcal nuclease domain containing 1			127724820		0.562	ENSG00000197157	14615	g.chr7:127724820G>T	gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity							-12.153609	KEEP	1	5	0.166666667	53	46	1	5	0.166666667	7.524703	53	46	0.061224	1	0	0	0	0	1	0	0	0	--	--		0	T			SND1_uc010lle.2_Missense_Mutation_p.A372S	166	GBM-19-2629-TP	p.A719S	G	CAATGACATTGCCAGTCACCC	NM_014390	NP_055205	127724820	Q7KZF4	SND1_HUMAN	0			19	2381	+	T	T			Missense_Mutation	719						
SNED1	25992		GRCh37	2	242004746	242004746	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000310397.8:c.2745G>A	p.Glu915=	p.E915=	ENST00000310397	NM_001080437.1	915	gaG/gaA	0																																																																																																																																																																																																																																												
SNRK	0	broad.mit.edu	GRCh37	3	43381834	43381834	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-27-1835-01	TCGA-27-1835-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296088.7:c.787A>C	p.Ile263Leu	p.I263L	ENST00000296088	NM_017719.4	263	Att/Ctt	0			1			C	I/L	uc003cms.3	protein_coding	YES	CCDS43075.1			787/2298									ovary(3)|stomach(1)|breast(1)|skin(1)	6	c.(787-789)ATT>CTT			PROSITE_profiles:PS50011,hmmpanther:PTHR24343:SF135,hmmpanther:PTHR24343,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	SNF related kinase				ENSP00000296088		7-May									COSM2157230,COSM2157229	7-May	.		ENST00000296088	Transcript			myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	ENSG00000163788	g.chr3:43381834A>C	30598			MODERATE		0.775	neutral	getma.org/?cm=msa&ty=f&p=SNRK_HUMAN&rb=16&re=269&var=I263L	getma.org/pdb.php?prot=SNRK_HUMAN&from=16&to=269&var=I263L	getma.org/?cm=var&var=hg19,3,43381834,A,C&fts=all	I263L	--	--	1																																		SNRK_uc003cmt.3_Missense_Mutation_p.I263L|SNRK_uc010hik.2_Missense_Mutation_p.I263L|SNRK_uc011azr.1_Missense_Mutation_p.I57L	1,1	1		possibly_damaging(0.838)	p.I263L	NM_017719	NP_060189		deleterious(0.01)	1,1	SNRK_HUMAN	SNRK	HGNC	Q9NRH2	SNRK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)	E7EUC4_HUMAN		5	1119	+			UPI00000558E4	263			Protein kinase.		SNV	SNRK,missense_variant,p.Ile263Leu,ENST00000296088,NM_017719.4;SNRK,missense_variant,p.Ile263Leu,ENST00000429705,NM_001100594.1;SNRK,missense_variant,p.Ile263Leu,ENST00000454177,;SNRK,missense_variant,p.Ile57Leu,ENST00000437827,;SNRK,upstream_gene_variant,,ENST00000468628,;SNRK,non_coding_transcript_exon_variant,,ENST00000484791,;SNRK,upstream_gene_variant,,ENST00000481892,;	uc003cms.3	c.787A>C	1091/5183	4	4			c.787A>C						3	SNP	c.(787-789)ATT>CTT	39	39			ovary(3)|stomach(1)|breast(1)|skin(1)	6	Broad	SNF related kinase			43381834		0.443	ENSG00000163788	14622	g.chr3:43381834A>C	myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			165			165	452.070977	KEEP	76	64	-1	103	121	76	64	-1	455.239331	103	121	0.395137	1	0	0	0	0	1	0	0	0	--	--		0	C			SNRK_uc003cmt.3_Missense_Mutation_p.I263L|SNRK_uc010hik.2_Missense_Mutation_p.I263L|SNRK_uc011azr.1_Missense_Mutation_p.I57L	194	GBM-27-1835-TP	p.I263L	A	TTTAGAAGAGATTGAAAATCA	NM_017719	NP_060189	43381834	Q9NRH2	SNRK_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)	5	1119	+	C	C			Missense_Mutation	263			Protein kinase.			
SNRNP200	23020	broad.mit.edu	GRCh37	2	96964138	96964138	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0157-01	TCGA-06-0157-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323853.5:c.1003G>A	p.Ala335Thr	p.A335T	ENST00000323853	NM_014014.4	335	Gcc/Acc	0			1			T	A/T	uc002svu.2	protein_coding	YES	CCDS2020.1			1003/6411									ovary(5)|skin(4)|large_intestine(1)	10	c.(1003-1005)GCC>ACC			hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF55	activating signal cointegrator 1 complex subunit				ENSP00000317123		Sep-45									COSM2150025,COSM3408040	Sep-45	.		ENST00000323853	Transcript	1			catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	ENSG00000144028	g.chr2:96964138C>T	30859			MODERATE		2.06	medium	getma.org/?cm=msa&ty=f&p=U520_HUMAN&rb=201&re=400&var=A335T	NA	getma.org/?cm=var&var=hg19,2,96964138,C,T&fts=all	A335T	--	--	1																																			1,1	1		benign(0.178)	p.A335T	NM_014014	NP_054733		tolerated(0.06)	1,1	U520_HUMAN	SNRNP200	HGNC	O75643	U520_HUMAN			Q9P172_HUMAN,Q7L5W4_HUMAN,Q5ZF01_HUMAN,A4FU77_HUMAN,A2RRQ7_HUMAN		9	1089	-			UPI0000207C53	335					SNV	SNRNP200,missense_variant,p.Ala335Thr,ENST00000323853,NM_014014.4;SNRNP200,missense_variant,p.Ala335Thr,ENST00000349783,;	uc002svu.2	c.1003G>A	1081/7165	2	2			c.1003G>A						2	SNP	c.(1003-1005)GCC>ACC	48	48			ovary(5)|skin(4)|large_intestine(1)	10	Broad	activating signal cointegrator 1 complex subunit			96964138		0.433	ENSG00000144028	14623	g.chr2:96964138C>T		catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding							85.625697	KEEP	15	17	-1	28	28	15	17	-1	86.924272	28	28	0.365854	1	0	0	0	0	1	0	0	0	--	--		0	T				28	GBM-06-0157-TP	p.A335T	C	TGTGCACTGGCCAGCAAGGTA	NM_014014	NP_054733	96964138	O75643	U520_HUMAN	0			9	1089	-	T	T			Missense_Mutation	335						
SNRPB	0	broad.mit.edu	GRCh37	20	2443779	2443779	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5218-01	TCGA-28-5218-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000438552.2:c.515G>A	p.Arg172His	p.R172H	ENST00000438552	NM_198216.1	172	cGt/cAt	0	T:0		1			T	R/H	uc002wfz.1	protein_coding	YES	CCDS13026.1			515/723									ovary(1)	1	c.(514-516)CGT>CAT			PIRSF_domain:PIRSF037187,hmmpanther:PTHR10701,hmmpanther:PTHR10701:SF2,Low_complexity_(Seg):seg	small nuclear ribonucleoprotein polypeptide B/B'			T:0.0001	ENSP00000412566		7-May									rs376998028,COSM3404983	7-May	.		ENST00000438552	Transcript	1		histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|protein binding|RNA binding	ENSG00000125835	g.chr20:2443779C>T	11153			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=RSMB_HUMAN&rb=83&re=240&var=R172H	NA	getma.org/?cm=var&var=hg19,20,2443779,C,T&fts=all	R172H	--	--	1																																		SNRPB_uc002wga.1_Missense_Mutation_p.R172H|SNRPB_uc010zpv.1_Missense_Mutation_p.R93H|SNRPB_uc002wgb.2_Missense_Mutation_p.R172H|SNORD119_uc010gam.1_5'Flank	0,1	1		unknown(0)	p.R172H	NM_198216	NP_937859		tolerated(0.18)	0,1	RSMB_HUMAN	SNRPB	HGNC	P14678	RSMB_HUMAN					5	678	-			UPI00001351FF	172	RG -> L (in Ref. 4).				SNV	SNRPB,missense_variant,p.Arg93His,ENST00000339610,;SNRPB,missense_variant,p.Arg172His,ENST00000381342,NM_003091.3;SNRPB,missense_variant,p.Arg172His,ENST00000438552,NM_198216.1;SNORD119,upstream_gene_variant,,ENST00000515997,;SNRPB,3_prime_UTR_variant,,ENST00000474384,;RP4-734P14.4,downstream_gene_variant,,ENST00000461548,;	uc002wfz.1	c.515G>A	678/1008	1	1			c.515G>A						20	SNP	c.(514-516)CGT>CAT	7	7			ovary(1)	1	Broad	small nuclear ribonucleoprotein polypeptide B/B'			2443779		0.597	ENSG00000125835	14632	g.chr20:2443779C>T	histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|protein binding|RNA binding							282.180856	KEEP	60	49	-1	71	52	60	49	-1	282.2074	71	52	0.487805	1	0	0	0	0	1	0	0	0	--	--		0	T			SNRPB_uc002wga.1_Missense_Mutation_p.R172H|SNRPB_uc010zpv.1_Missense_Mutation_p.R93H|SNRPB_uc002wgb.2_Missense_Mutation_p.R172H|SNORD119_uc010gam.1_5'Flank	224	GBM-28-5218-TP	p.R172H	C	AGGACCCCCACGGCCAGGTGG	NM_198216	NP_937859	2443779	P14678	RSMB_HUMAN	0			5	678	-	T	T			Missense_Mutation	172	RG -> L (in Ref. 4).					
SNRPB2	6629		GRCh37	20	16721056	16721056	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000246071.6:c.516T>C		p.X172_splice	ENST00000246071	NM_003092.4	172	aaT/aaC	0																																																																																																																																																																																																																																												
SNTA1	0	broad.mit.edu	GRCh37	20	32000203	32000203	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217381.2:c.939G>A	p.Leu313=	p.L313=	ENST00000217381	NM_003098.2	313	ctG/ctA	0			1			T	L	uc002wzd.1	protein_coding	YES	CCDS13220.1			939/1518									skin(1)	1	c.(937-939)CTG>CTA			Low_complexity_(Seg):seg,PROSITE_profiles:PS50003,hmmpanther:PTHR10554:SF6,hmmpanther:PTHR10554,SMART_domains:SM00233	acidic alpha 1 syntrophin				ENSP00000217381		8-May									COSM3405026	8-May	.		ENST00000217381	Transcript	1		muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding	ENSG00000101400	g.chr20:32000203C>T	11167			LOW								--	--	1																																		SNTA1_uc010zuf.1_Intron	1	1			p.L313L	NM_003098	NP_003089			1	SNTA1_HUMAN	SNTA1	HGNC	Q13424	SNTA1_HUMAN			B3KTR0_HUMAN		5	1211	-			UPI0000135B08	313			PH 2.		SNV	SNTA1,synonymous_variant,p.=,ENST00000217381,NM_003098.2;	uc002wzd.1	c.939G>A	1211/2342	1	1			c.939G>A						20	SNP	c.(937-939)CTG>CTA	1	1			skin(1)	1	Broad	acidic alpha 1 syntrophin			32000203		0.652	ENSG00000101400	14642	g.chr20:32000203C>T	muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding							32.920715	KEEP	6	5	-1	10	11	6	5	-1	33.290255	10	11	0.37931	1	0	0	0	0	0	0	1	0	--	--		0	T			SNTA1_uc010zuf.1_Intron	177	GBM-19-5959-TP	p.L313L	C	TTAGCAGGGCCAGGGTGGGGG	NM_003098	NP_003089	32000203	Q13424	SNTA1_HUMAN	0			5	1211	-	T	T			Silent	313			PH 2.			
SNTG2	54221	broad.mit.edu	GRCh37	2	1271318	1271318	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01	TCGA-06-5415-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308624.5:c.1259C>T	p.Thr420Met	p.T420M	ENST00000308624	NM_018968.3	420	aCg/aTg	0			1			T	T/M	uc002qwq.2	protein_coding	YES	CCDS46220.1			1259/1620									ovary(1)|large_intestine(1)|breast(1)	3	c.(1258-1260)ACG>ATG			hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF3,Superfamily_domains:SSF50729	syntrophin, gamma 2				ENSP00000311837		14/17									COSM3042088	14/17	.		ENST00000308624	Transcript			central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	ENSG00000172554	g.chr2:1271318C>T	13741			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=SNTG2_HUMAN&rb=296&re=421&var=T420M	NA	getma.org/?cm=var&var=hg19,2,1271318,C,T&fts=all	T420M	--	--	1																																		SNTG2_uc010ewi.2_Missense_Mutation_p.T293M	1	1		benign(0.042)	p.T420M	NM_018968	NP_061841		deleterious(0.03)	1	SNTG2_HUMAN	SNTG2	HGNC	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)			14	1387	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	UPI0000456D73	420			PH.		SNV	SNTG2,missense_variant,p.Thr420Met,ENST00000308624,NM_018968.3;SNTG2,missense_variant,p.Thr293Met,ENST00000407292,;SNTG2,non_coding_transcript_exon_variant,,ENST00000471239,;	uc002qwq.2	c.1259C>T	1388/1888	1	1			c.1259C>T						2	SNP	c.(1258-1260)ACG>ATG	6	6			ovary(1)|large_intestine(1)|breast(1)	3	Broad	syntrophin, gamma 2			1271318		0.527	ENSG00000172554	14646	g.chr2:1271318C>T	central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding							56.949349	KEEP	9	12	-1	10	9	9	12	-1	56.949349	10	9	0.5	1	0	0	0	0	1	0	0	0	--	--		0	T			SNTG2_uc010ewi.2_Missense_Mutation_p.T293M	98	GBM-06-5415-TP	p.T420M	C	CAAAGAGCCACGTTCATGGAA	NM_018968	NP_061841	1271318	Q9NY99	SNTG2_HUMAN	0		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	14	1387	+	T	T	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	Missense_Mutation	420			PH.			
SNTG2	0	broad.mit.edu	GRCh37	2	1271233	1271233	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01	TCGA-28-5207-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308624.5:c.1174G>A	p.Val392Met	p.V392M	ENST00000308624	NM_018968.3	392	Gtg/Atg	0	A:0		1			A	V/M	uc002qwq.2	protein_coding	YES	CCDS46220.1			1174/1620									ovary(1)|large_intestine(1)|breast(1)	3	c.(1174-1176)GTG>ATG			hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF3,Superfamily_domains:SSF50729	syntrophin, gamma 2			A:0.0001	ENSP00000311837		14/17	4.14E-05	0.000106				4.68E-05		6.42E-05	rs374477415,COSM3406842	14/17	.		ENST00000308624	Transcript			central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	ENSG00000172554	g.chr2:1271233G>A	13741			MODERATE		-1.1	neutral	getma.org/?cm=msa&ty=f&p=SNTG2_HUMAN&rb=296&re=421&var=V392M	NA	getma.org/?cm=var&var=hg19,2,1271233,G,A&fts=all	V392M	--	--	1																																		SNTG2_uc010ewi.2_Missense_Mutation_p.V265M	0,1	1		benign(0.012)	p.V392M	NM_018968	NP_061841		tolerated(0.24)	0,1	SNTG2_HUMAN	SNTG2	HGNC	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)			14	1302	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	UPI0000456D73	392			PH.		SNV	SNTG2,missense_variant,p.Val392Met,ENST00000308624,NM_018968.3;SNTG2,missense_variant,p.Val265Met,ENST00000407292,;SNTG2,non_coding_transcript_exon_variant,,ENST00000471239,;	uc002qwq.2	c.1174G>A	1303/1888	1	1			c.1174G>A						2	SNP	c.(1174-1176)GTG>ATG	62	62			ovary(1)|large_intestine(1)|breast(1)	3	Broad	syntrophin, gamma 2			1271233		0.522	ENSG00000172554	14646	g.chr2:1271233G>A	central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding							0.866278	KEEP	0	4	-1	25	18	0	4	-1	8.810177	25	18	0.086957	1	0	0	0	0	1	0	0	0	--	--		0	A			SNTG2_uc010ewi.2_Missense_Mutation_p.V265M	216	GBM-28-5207-TP	p.V392M	G	CTTCAGCATCGTGGCCGGCCA	NM_018968	NP_061841	1271233	Q9NY99	SNTG2_HUMAN	0		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	14	1302	+	A	A	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	Missense_Mutation	392			PH.			
SNTG2	0	broad.mit.edu	GRCh37	2	1168837	1168837	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01	TCGA-28-5208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308624.5:c.559G>A	p.Gly187Ser	p.G187S	ENST00000308624	NM_018968.3	187	Ggt/Agt	0		A:0.0008	1	A:0		A	G/S	uc002qwq.2	protein_coding	YES	CCDS46220.1			559/1620									ovary(1)|large_intestine(1)|breast(1)	3	c.(559-561)GGT>AGT			hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF3,Superfamily_domains:SSF50729	syntrophin, gamma 2		A:0		ENSP00000311837	A:0	17-Aug	4.14E-05	0.000102		0.000116		3.00E-05		6.06E-05	rs567910526,COSM265284	17-Aug	.		ENST00000308624	Transcript		A:0.0002	central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	ENSG00000172554	g.chr2:1168837G>A	13741			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=SNTG2_HUMAN&rb=154&re=353&var=G187S	NA	getma.org/?cm=var&var=hg19,2,1168837,G,A&fts=all	G187S	--	--	1																																		SNTG2_uc010ewi.2_Intron	0,1	1		possibly_damaging(0.748)	p.G187S	NM_018968	NP_061841	A:0	tolerated(0.11)	0,1	SNTG2_HUMAN	SNTG2	HGNC	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)			8	687	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	UPI0000456D73	187					SNV	SNTG2,missense_variant,p.Gly187Ser,ENST00000308624,NM_018968.3;SNTG2,intron_variant,,ENST00000407292,;SNTG2,non_coding_transcript_exon_variant,,ENST00000467759,;SNTG2,non_coding_transcript_exon_variant,,ENST00000463442,;SNTG2,non_coding_transcript_exon_variant,,ENST00000494178,;SNTG2,non_coding_transcript_exon_variant,,ENST00000475201,;	uc002qwq.2	c.559G>A	688/1888	2	2			c.559G>A						2	SNP	c.(559-561)GGT>AGT	28	28			ovary(1)|large_intestine(1)|breast(1)	3	Broad	syntrophin, gamma 2			1168837		0.468	ENSG00000172554	14646	g.chr2:1168837G>A	central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding							490.839495	KEEP	76	97	-1	106	166	76	97	-1	494.561754	106	166	0.394805	1	0	0	0	0	1	0	0	0	--	--		0	A			SNTG2_uc010ewi.2_Intron	217	GBM-28-5208-TP	p.G187S	G	CTTTGACAGCGGTTTGCATCT	NM_018968	NP_061841	1168837	Q9NY99	SNTG2_HUMAN	0		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	8	687	+	A	A	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	Missense_Mutation	187						
SNX1	6642	broad.mit.edu	GRCh37	15	64415724	64415724	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0190-01	TCGA-06-0190-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261889.5:c.489A>G	p.Val163=	p.V163=	ENST00000261889	NM_001242933.1	163	gtA/gtG	0			1			G	V	uc002amv.2	protein_coding		CCDS32266.1			489/1569										0	c.(487-489)GTA>GTG			PROSITE_profiles:PS50195,hmmpanther:PTHR10555:SF129,hmmpanther:PTHR10555,Pfam_domain:PF00787,Gene3D:3.30.1520.10,SMART_domains:SM00312,Superfamily_domains:SSF64268	sorting nexin 1 isoform a				ENSP00000453785		15-May									COSM3401869	15-May	.		ENST00000559844	Transcript			cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity	ENSG00000028528	g.chr15:64415724A>G	11172			LOW								--	--	1																																		SNX1_uc010bgv.2_Intron|SNX1_uc010uio.1_Silent_p.V163V|SNX1_uc002amw.2_Silent_p.V163V|SNX1_uc002amx.2_Silent_p.V98V|SNX1_uc002amy.2_Silent_p.V92V|SNX1_uc010bgw.2_Silent_p.V65V	1				p.V163V	NM_003099	NP_003090			1	SNX1_HUMAN	SNX1	HGNC	Q13596	SNX1_HUMAN			H0YK42_HUMAN		5	525	+			UPI0000135B3E	163			PX.		SNV	SNX1,synonymous_variant,p.=,ENST00000353874,;SNX1,synonymous_variant,p.=,ENST00000261889,NM_001242933.1,NM_003099.4;SNX1,synonymous_variant,p.=,ENST00000559844,;SNX1,synonymous_variant,p.=,ENST00000561026,NM_148955.3;SNX1,synonymous_variant,p.=,ENST00000559061,;SNX1,5_prime_UTR_variant,,ENST00000560829,;SNX1,intron_variant,,ENST00000558040,;SNX1,3_prime_UTR_variant,,ENST00000380285,;SNX1,3_prime_UTR_variant,,ENST00000559389,;SNX1,intron_variant,,ENST00000560260,;	uc002amv.2	c.489A>G	503/1971	3	3			c.489A>G						15	SNP	c.(487-489)GTA>GTG	52	52				0	Broad	sorting nexin 1 isoform a			64415724		0.418	ENSG00000028528	14651	g.chr15:64415724A>G	cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity							149.149336	KEEP	25	24	-1	49	67	25	24	-1	154.145836	49	67	0.303448	1	0	0	0	0	0	0	1	0	--	--		0	G			SNX1_uc010bgv.2_Intron|SNX1_uc010uio.1_Silent_p.V163V|SNX1_uc002amw.2_Silent_p.V163V|SNX1_uc002amx.2_Silent_p.V98V|SNX1_uc002amy.2_Silent_p.V92V|SNX1_uc010bgw.2_Silent_p.V65V	43	GBM-06-0190-TP	p.V163V	A	ATGCATATGTAGCCTACAAAG	NM_003099	NP_003090	64415724	Q13596	SNX1_HUMAN	0			5	525	+	G	G			Silent	163			PX.			
SNX11	29916	broad.mit.edu	GRCh37	17	46198838	46198838	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0157-01	TCGA-06-0157-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393405.2:c.781C>A	p.Pro261Thr	p.P261T	ENST00000393405	NM_152244.1	261	Cct/Act	0			1			A	P/T	uc002inf.1	protein_coding		CCDS11526.1			781/813										0	c.(781-783)CCT>ACT				sorting nexin 11				ENSP00000352175		7-Jul									COSM2150059	7-Jul	.		ENST00000359238	Transcript			cell communication|protein transport	membrane	phosphatidylinositol binding	ENSG00000002919	g.chr17:46198838C>A	14975			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=SNX11_HUMAN&rb=130&re=270&var=P261T	NA	getma.org/?cm=var&var=hg19,17,46198838,C,A&fts=all	P261T	--	--	1																																		SNX11_uc010wlg.1_Missense_Mutation_p.P253T|SNX11_uc010wlh.1_Missense_Mutation_p.P253T|SNX11_uc010wli.1_Missense_Mutation_p.P200T|SNX11_uc010wlj.1_Missense_Mutation_p.P117T|SNX11_uc002ing.1_Missense_Mutation_p.P261T|SNX11_uc002inh.1_Missense_Mutation_p.P261T	1			benign(0.004)	p.P261T	NM_152244	NP_689450		tolerated_low_confidence(0.05)	1	SNX11_HUMAN	SNX11	HGNC	Q9Y5W9	SNX11_HUMAN			J3QRB9_HUMAN,J3QLV8_HUMAN,J3KTN6_HUMAN,B4DJI7_HUMAN		8	1135	+			UPI000003E7DA	261					SNV	SNX11,missense_variant,p.Pro261Thr,ENST00000393405,NM_152244.1;SNX11,missense_variant,p.Pro261Thr,ENST00000359238,NM_013323.2;SNX11,missense_variant,p.Pro117Thr,ENST00000452859,;SNX11,missense_variant,p.Pro200Thr,ENST00000439357,;SNX11,missense_variant,p.Pro253Thr,ENST00000582104,;SNX11,missense_variant,p.Pro253Thr,ENST00000580219,;SNX11,downstream_gene_variant,,ENST00000584335,;SNX11,downstream_gene_variant,,ENST00000582481,;SNX11,downstream_gene_variant,,ENST00000581298,;SNX11,downstream_gene_variant,,ENST00000578861,;SNX11,3_prime_UTR_variant,,ENST00000581705,;SNX11,downstream_gene_variant,,ENST00000583320,;	uc002inf.1	c.781C>A	1048/2315	2	2			c.781C>A						17	SNP	c.(781-783)CCT>ACT	46	46				0	Broad	sorting nexin 11			46198838		0.522	ENSG00000002919	14653	g.chr17:46198838C>A	cell communication|protein transport	membrane	phosphatidylinositol binding							262.581868	KEEP	55	58	0.513274336	88	127	55	58	0.513274336	268.132616	88	127	0.35	1	0	0	0	0	1	0	0	0	--	--		0	A			SNX11_uc010wlg.1_Missense_Mutation_p.P253T|SNX11_uc010wlh.1_Missense_Mutation_p.P253T|SNX11_uc010wli.1_Missense_Mutation_p.P200T|SNX11_uc010wlj.1_Missense_Mutation_p.P117T|SNX11_uc002ing.1_Missense_Mutation_p.P261T|SNX11_uc002inh.1_Missense_Mutation_p.P261T	28	GBM-06-0157-TP	p.P261T	C	GCCTTTGGACCCTGGTCAGTT	NM_152244	NP_689450	46198838	Q9Y5W9	SNX11_HUMAN	0			8	1135	+	A	A			Missense_Mutation	261						
SNX13	0	broad.mit.edu	GRCh37	7	17861198	17861198	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5954-01	TCGA-19-5954-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428135.3:c.1779G>A	p.Glu593=	p.E593=	ENST00000428135	NM_015132.4	593	gaG/gaA	0			1			T	E	uc003stw.1	protein_coding	YES	CCDS47551.1			1779/2874									central_nervous_system(2)|kidney(1)	3	c.(1810-1812)GAG>GAA			Gene3D:3.30.1520.10,Pfam_domain:PF00787,PROSITE_profiles:PS50195,hmmpanther:PTHR22775,hmmpanther:PTHR22775:SF26,SMART_domains:SM00312,Superfamily_domains:SSF64268	SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g;				ENSP00000398789		18/26									COSM3411879	18/26	.		ENST00000428135	Transcript			cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	ENSG00000071189	g.chr7:17861198C>T	21335			LOW								--	--	1																																		SNX13_uc003stv.2_Silent_p.E593E|SNX13_uc010kuc.2_Silent_p.E390E|SNX13_uc010kub.2_5'UTR	1	1			p.E604E					1	SNX13_HUMAN	SNX13	HGNC	Q9Y5W8	SNX13_HUMAN			B3KN60_HUMAN		18	2025	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		UPI000002B3E8	604			PX.		SNV	SNX13,synonymous_variant,p.=,ENST00000409389,;SNX13,synonymous_variant,p.=,ENST00000428135,NM_015132.4;SNX13,non_coding_transcript_exon_variant,,ENST00000496855,;SNX13,3_prime_UTR_variant,,ENST00000409076,;SNX13,3_prime_UTR_variant,,ENST00000444712,;	uc003stw.1	c.1812G>A	1978/6357	2	2			c.1812G>A						7	SNP	c.(1810-1812)GAG>GAA	48	48			central_nervous_system(2)|kidney(1)	3	Broad	SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g;			17861198		0.413	ENSG00000071189	14655	g.chr7:17861198C>T	cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity							122.165711	KEEP	17	33	-1	60	90	17	33	-1	131.398736	60	90	0.254438	1	0	0	0	0	0	0	1	0	--	--		0	T			SNX13_uc003stv.2_Silent_p.E593E|SNX13_uc010kuc.2_Silent_p.E390E|SNX13_uc010kub.2_5'UTR	174	GBM-19-5954-TP	p.E604E	C	TCCACATCTCCTCACTGTTTA			17861198	Q9Y5W8	SNX13_HUMAN	0			18	2025	-	T	T	Lung NSC(10;0.0261)|all_lung(11;0.0521)		Silent	604			PX.			
SNX14	57231	broad.mit.edu	GRCh37	6	86253476	86253476	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0750-01	TCGA-06-0750-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314673.3:c.1111G>T	p.Glu371Ter	p.E371*	ENST00000314673	NM_153816.3	371	Gaa/Taa	0			1			A	E/*	uc003pkr.2	protein_coding	YES	CCDS5004.1			1111/2841										0	c.(1111-1113)GAA>TAA			Superfamily_domains:SSF48097,SMART_domains:SM00315,Pfam_domain:PF00615,hmmpanther:PTHR22775:SF3,hmmpanther:PTHR22775,PROSITE_profiles:PS50132	sorting nexin 14 isoform a				ENSP00000313121		13/29									COSM2151937	13/29	.		ENST00000314673	Transcript	1		cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	ENSG00000135317	g.chr6:86253476C>A	14977			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,6,86253476,C,A&fts=all	E371*	--	--	1																																		SNX14_uc003pkp.2_Nonsense_Mutation_p.E234*|SNX14_uc003pkq.2_5'UTR|SNX14_uc011dzg.1_Nonsense_Mutation_p.E319*|SNX14_uc003pks.2_Nonsense_Mutation_p.E327*|SNX14_uc003pkt.2_Nonsense_Mutation_p.E371*	1	1			p.E371*	NM_153816	NP_722523			1	SNX14_HUMAN	SNX14	HGNC	Q9Y5W7	SNX14_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0423)	E2QRM8_HUMAN		13	1304	-		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)	UPI000013F8C8	371			RGS.		SNV	SNX14,stop_gained,p.Glu371Ter,ENST00000314673,NM_153816.3;SNX14,stop_gained,p.Glu327Ter,ENST00000346348,NM_020468.3;SNX14,stop_gained,p.Glu298Ter,ENST00000515216,;SNX14,stop_gained,p.Glu319Ter,ENST00000505648,;SNX14,stop_gained,p.Glu371Ter,ENST00000369627,;SNX14,stop_gained,p.Glu371Ter,ENST00000513865,;SNX14,splice_region_variant,,ENST00000508980,;SNX14,splice_region_variant,,ENST00000503491,;SNX14,splice_region_variant,,ENST00000369635,;SNX14,non_coding_transcript_exon_variant,,ENST00000506182,;SNX14,downstream_gene_variant,,ENST00000504191,;	uc003pkr.2	c.1111G>T	1288/3486	5	2			c.1111G>T						6	SNP	c.(1111-1113)GAA>TAA	33	33				0	Broad	sorting nexin 14 isoform a			86253476		0.279	ENSG00000135317	14656	g.chr6:86253476C>A	cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity							31.088656	KEEP	9	5	0.357142857	16	11	9	5	0.357142857	31.85252	16	11	0.342857	1	0	0	0	0	0	1	0	0	--	--		0	A			SNX14_uc003pkp.2_Nonsense_Mutation_p.E234*|SNX14_uc003pkq.2_5'UTR|SNX14_uc011dzg.1_Nonsense_Mutation_p.E319*|SNX14_uc003pks.2_Nonsense_Mutation_p.E327*|SNX14_uc003pkt.2_Nonsense_Mutation_p.E371*	70	GBM-06-0750-TP	p.E371*	C	TCATTAAATTCCTCTAACAAA	NM_153816	NP_722523	86253476	Q9Y5W7	SNX14_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.0423)	13	1304	-	A	A		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)	Nonsense_Mutation	371			RGS.			
SNX14	0	broad.mit.edu	GRCh37	6	86258062	86258062	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-2494-01	TCGA-32-2494-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314673.3:c.824C>G	p.Ser275Cys	p.S275C	ENST00000314673	NM_153816.3	275	tCt/tGt	0			1			C	S/C	uc003pkr.2	protein_coding	YES	CCDS5004.1			824/2841										0	c.(823-825)TCT>TGT			SMART_domains:SM00313,Pfam_domain:PF02194,hmmpanther:PTHR22775:SF3,hmmpanther:PTHR22775,PROSITE_profiles:PS51207	sorting nexin 14 isoform a				ENSP00000313121		29-Sep									COSM3411328	29-Sep	.		ENST00000314673	Transcript	1		cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	ENSG00000135317	g.chr6:86258062G>C	14977			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=SNX14_HUMAN&rb=130&re=303&var=S275C	NA	getma.org/?cm=var&var=hg19,6,86258062,G,C&fts=all	S275C	--	--	1																																		SNX14_uc003pkp.2_Missense_Mutation_p.S138C|SNX14_uc003pkq.2_5'UTR|SNX14_uc011dzg.1_Missense_Mutation_p.S223C|SNX14_uc003pks.2_Missense_Mutation_p.S231C|SNX14_uc003pkt.2_Missense_Mutation_p.S275C	1	1		possibly_damaging(0.841)	p.S275C	NM_153816	NP_722523		deleterious(0)	1	SNX14_HUMAN	SNX14	HGNC	Q9Y5W7	SNX14_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0423)	E2QRM8_HUMAN		9	1017	-		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)	UPI000013F8C8	275			PXA.		SNV	SNX14,missense_variant,p.Ser275Cys,ENST00000314673,NM_153816.3;SNX14,missense_variant,p.Ser231Cys,ENST00000346348,NM_020468.3;SNX14,missense_variant,p.Ser202Cys,ENST00000515216,;SNX14,missense_variant,p.Ser223Cys,ENST00000505648,;SNX14,missense_variant,p.Ser275Cys,ENST00000369627,;SNX14,missense_variant,p.Ser275Cys,ENST00000513865,;SNX14,downstream_gene_variant,,ENST00000514419,;SNX14,downstream_gene_variant,,ENST00000509338,;SNX14,non_coding_transcript_exon_variant,,ENST00000508980,;SNX14,3_prime_UTR_variant,,ENST00000369635,;SNX14,non_coding_transcript_exon_variant,,ENST00000503491,;SNX14,non_coding_transcript_exon_variant,,ENST00000504191,;SNX14,upstream_gene_variant,,ENST00000506182,;SNX14,downstream_gene_variant,,ENST00000513869,;	uc003pkr.2	c.824C>G	1001/3486	3	3			c.824C>G						6	SNP	c.(823-825)TCT>TGT	54	54				0	Broad	sorting nexin 14 isoform a			86258062		0.219	ENSG00000135317	14656	g.chr6:86258062G>C	cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity							85.270316	KEEP	17	18	-1	31	49	17	18	-1	87.983777	31	49	0.303797	1	0	0	0	0	1	0	0	0	--	--		0	C			SNX14_uc003pkp.2_Missense_Mutation_p.S138C|SNX14_uc003pkq.2_5'UTR|SNX14_uc011dzg.1_Missense_Mutation_p.S223C|SNX14_uc003pks.2_Missense_Mutation_p.S231C|SNX14_uc003pkt.2_Missense_Mutation_p.S275C	236	GBM-32-2494-TP	p.S275C	G	CACAGAGCCAGACAGAATCTC	NM_153816	NP_722523	86258062	Q9Y5W7	SNX14_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.0423)	9	1017	-	C	C		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)	Missense_Mutation	275			PXA.			
SNX15	29907	broad.mit.edu	GRCh37	11	64800008	64800008	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs142024969	byFrequency	TCGA-06-0185-01	TCGA-06-0185-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377244.3:c.241C>T	p.Arg81Trp	p.R81W	ENST00000377244	NM_013306.4	81	Cgg/Tgg	0	G:0.0009	T:0	1	T:0		T	R/W	uc001oci.3	protein_coding	YES	CCDS8089.1			241/1029									ovary(1)	1	c.(241-243)CGG>TGG			PROSITE_profiles:PS50195,hmmpanther:PTHR15508,Pfam_domain:PF00787,Gene3D:3.30.1520.10,SMART_domains:SM00312,Superfamily_domains:SSF64268	sorting nexin 15 isoform A		T:0	G:0	ENSP00000366452	T:0.001	8-Mar	8.24E-06					1.50E-05			rs142024969,COSM2150537	8-Mar	.		ENST00000377244	Transcript		T:0.0002	cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity	ENSG00000110025	g.chr11:64800008C>T	14978			MODERATE		2.305	medium	getma.org/?cm=msa&ty=f&p=SNX15_HUMAN&rb=7&re=125&var=R81W	getma.org/pdb.php?prot=SNX15_HUMAN&from=7&to=125&var=R81W	getma.org/?cm=var&var=hg19,11,64800008,C,T&fts=all	R81W	2.215	medium	1																																		SNX15_uc009ypy.2_Missense_Mutation_p.R81W|SNX15_uc001ocj.2_Missense_Mutation_p.R81W|SNX15_uc001ock.2_Missense_Mutation_p.R81W	0,1	1		probably_damaging(0.913)	p.R81W	NM_013306	NP_037438	T:0	deleterious(0)	0,1	SNX15_HUMAN	SNX15	HGNC	Q9NRS6	SNX15_HUMAN			E5KQS5_HUMAN		6	894	+			UPI0000135B4B	81			PX.		SNV	SNX15,missense_variant,p.Arg81Trp,ENST00000377244,NM_013306.4,NM_147777.3;SNX15,missense_variant,p.Arg81Trp,ENST00000352068,;SNX15,missense_variant,p.Arg77Trp,ENST00000534637,;SNX15,missense_variant,p.Arg69Trp,ENST00000524831,;SNX15,synonymous_variant,p.=,ENST00000525648,;SNX15,synonymous_variant,p.=,ENST00000529673,;RP11-399J13.3,3_prime_UTR_variant,,ENST00000301886,;SNX15,non_coding_transcript_exon_variant,,ENST00000526702,;	uc001oci.3	c.241C>T	371/1939	2	2			c.241C>T						11	SNP	c.(241-243)CGG>TGG	22	22			ovary(1)	1	Broad	sorting nexin 15 isoform A			64800008		0.627	ENSG00000110025	14657	g.chr11:64800008C>T	cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity	Esophageal Squamous(56;269 1304 3324 8253)			Esophageal Squamous(56;269 1304 3324 8253)			38.926176	KEEP	7	13	-1	43	41	7	13	-1	46.04148	43	41	0.2	1	0	0	0	0	1	0	0	0	2.215	medium		0	T			SNX15_uc009ypy.2_Missense_Mutation_p.R81W|SNX15_uc001ocj.2_Missense_Mutation_p.R81W|SNX15_uc001ock.2_Missense_Mutation_p.R81W	40	GBM-06-0185-TP	p.R81W	C	TGCTTTCCCCCGGGCCCAGGT	NM_013306	NP_037438	64800008	Q9NRS6	SNX15_HUMAN	0			6	894	+	T	T			Missense_Mutation	81			PX.			
SNX18	112574	broad.mit.edu	GRCh37	5	53815264	53815264	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-06-0174-01	TCGA-06-0174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326277.3:c.1482C>G	p.Ala494=	p.A494=	ENST00000326277	NM_052870.2	494	gcC/gcG	0			1			G	A	uc003jpj.3	protein_coding	YES	CCDS3962.1			1482/1887										0	c.(1480-1482)GCC>GCG			Pfam_domain:PF10456,PIRSF_domain:PIRSF027744,hmmpanther:PTHR10555,hmmpanther:PTHR10555:SF13	sorting nexin 18 isoform b				ENSP00000317332		1-Jan									COSM3410310,COSM3410311	1-Jan	.		ENST00000326277	Transcript			cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding	ENSG00000178996	g.chr5:53815264C>G	19245			LOW								--	--	1																																		SNX18_uc011cqg.1_Silent_p.A494A|SNX18_uc003jpi.3_Silent_p.A494A	1,1	1			p.A494A	NM_052870	NP_443102			1,1	SNX18_HUMAN	SNX18	HGNC	Q96RF0	SNX18_HUMAN					1	1672	+		Lung NSC(810;3.46e-05)|Breast(144;0.102)	UPI00001418B0	494			BAR.		SNV	SNX18,synonymous_variant,p.=,ENST00000343017,NM_001145427.1;SNX18,synonymous_variant,p.=,ENST00000381410,NM_001102575.1;SNX18,synonymous_variant,p.=,ENST00000326277,NM_052870.2;	uc003jpj.3	c.1482C>G	1672/3241	3	3			c.1482C>G						5	SNP	c.(1480-1482)GCC>GCG	4	4				0	Broad	sorting nexin 18 isoform b			53815264		0.617	ENSG00000178996	14660	g.chr5:53815264C>G	cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding							157.107853	KEEP	28	31	-1	34	35	28	31	-1	157.266131	34	35	0.46087	1	0	0	0	0	0	0	1	0	--	--		0	G			SNX18_uc011cqg.1_Silent_p.A494A|SNX18_uc003jpi.3_Silent_p.A494A	37	GBM-06-0174-TP	p.A494A	C	AGGCTATCGCCTTCACCGGAG	NM_052870	NP_443102	53815264	Q96RF0	SNX18_HUMAN	0			1	1672	+	G	G		Lung NSC(810;3.46e-05)|Breast(144;0.102)	Silent	494			BAR.			
SNX19	0	broad.mit.edu	GRCh37	11	130781567	130781567	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-41-2572-01	TCGA-41-2572-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265909.4:c.1774C>A	p.Arg592Ser	p.R592S	ENST00000265909	NM_014758.2	592	Cgt/Agt	0			1			T	R/S	uc001qgk.3	protein_coding	YES	CCDS31721.1			1774/2979									ovary(2)|lung(2)	4	c.(1774-1776)CGT>AGT			Gene3D:3.30.1520.10,Pfam_domain:PF00787,PROSITE_profiles:PS50195,hmmpanther:PTHR22775,hmmpanther:PTHR22775:SF27,SMART_domains:SM00312,Superfamily_domains:SSF64268	sorting nexin 19				ENSP00000265909		11-Feb									COSM541670	11-Feb	.		ENST00000265909	Transcript			cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	ENSG00000120451	g.chr11:130781567G>T	21532			MODERATE		1.405	low	getma.org/?cm=msa&ty=f&p=SNX19_HUMAN&rb=532&re=659&var=R592S	getma.org/pdb.php?prot=SNX19_HUMAN&from=532&to=659&var=R592S	getma.org/?cm=var&var=hg19,11,130781567,G,T&fts=all	R592S	--	--	1																																		SNX19_uc010sce.1_5'UTR|SNX19_uc010scf.1_Missense_Mutation_p.R35S|SNX19_uc010scg.1_5'UTR|SNX19_uc001qgl.3_Missense_Mutation_p.R592S|SNX19_uc009zcx.1_RNA	1	1		probably_damaging(1)	p.R592S	NM_014758	NP_055573		deleterious(0)	1	SNX19_HUMAN	SNX19	HGNC	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	E9PLV3_HUMAN,E9PJV7_HUMAN		2	2322	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	UPI000013D6A5	592			PX.		SNV	SNX19,missense_variant,p.Arg592Ser,ENST00000265909,NM_014758.2;SNX19,missense_variant,p.Arg592Ser,ENST00000533214,;SNX19,missense_variant,p.Arg35Ser,ENST00000539184,;SNX19,5_prime_UTR_variant,,ENST00000530356,;SNX19,5_prime_UTR_variant,,ENST00000528555,;SNX19,upstream_gene_variant,,ENST00000534726,;SNX19,upstream_gene_variant,,ENST00000545537,;SNX19,non_coding_transcript_exon_variant,,ENST00000533318,;SNX19,upstream_gene_variant,,ENST00000524460,;SNX19,non_coding_transcript_exon_variant,,ENST00000531608,;	uc001qgk.3	c.1774C>A	2344/6535	2	2			c.1774C>A						11	SNP	c.(1774-1776)CGT>AGT	20	20			ovary(2)|lung(2)	4	Broad	sorting nexin 19			130781567		0.557	ENSG00000120451	14661	g.chr11:130781567G>T	cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			728			728	-18.857745	KEEP	1	2	0.333333333	60	53	1	2	0.333333333	7.105846	60	53	0.028302	1	0	0	0	0	1	0	0	0	--	--		0	T			SNX19_uc010sce.1_5'UTR|SNX19_uc010scf.1_Missense_Mutation_p.R35S|SNX19_uc010scg.1_5'UTR|SNX19_uc001qgl.3_Missense_Mutation_p.R592S|SNX19_uc009zcx.1_RNA	251	GBM-41-2572-TP	p.R592S	G	TCCTCCAGACGGGTCTGCAGA	NM_014758	NP_055573	130781567	Q92543	SNX19_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	2	2322	-	T	T	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	Missense_Mutation	592			PX.			
SNX20	0	broad.mit.edu	GRCh37	16	50707501	50707501	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01	TCGA-32-1970-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330943.4:c.767G>A	p.Arg256His	p.R256H	ENST00000330943	NM_182854.2	256	cGc/cAc	0			1			T	R/H	uc002egk.2	protein_coding	YES	CCDS10745.1			767/951									ovary(1)	1	c.(766-768)CGC>CAC			hmmpanther:PTHR20939:SF1,hmmpanther:PTHR20939,Gene3D:1.25.40.10	sorting nexin 20 isoform 1				ENSP00000332062		4-Apr	0.000109		0.000101					0.000817	rs772636555,COSM252844	4-Apr	common_variant		ENST00000330943	Transcript			cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding	ENSG00000167208	g.chr16:50707501C>T	30390			MODERATE		-0.69	neutral	getma.org/?cm=msa&ty=f&p=SNX20_HUMAN&rb=188&re=316&var=R256H	NA	getma.org/?cm=var&var=hg19,16,50707501,C,T&fts=all	R256H	--	--	1																																		SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron	0,1	1		benign(0.002)	p.R256H	NM_182854	NP_878274		tolerated(0.54)	0,1	SNX20_HUMAN	SNX20	HGNC	Q7Z614	SNX20_HUMAN					4	940	-			UPI000004348D	256					SNV	SNX20,missense_variant,p.Arg256His,ENST00000330943,NM_182854.2;SNX20,intron_variant,,ENST00000300590,NM_153337.2;SNX20,intron_variant,,ENST00000423026,NM_001144972.1;RP11-401P9.5,downstream_gene_variant,,ENST00000570167,;RP11-401P9.5,downstream_gene_variant,,ENST00000570241,;SNX20,intron_variant,,ENST00000568993,;	uc002egk.2	c.767G>A	939/2904	1	1			c.767G>A						16	SNP	c.(766-768)CGC>CAC	9	9			ovary(1)	1	Broad	sorting nexin 20 isoform 1			50707501		0.741	ENSG00000167208	14663	g.chr16:50707501C>T	cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding							40.735344	KEEP	12	9	-1	10	11	12	9	-1	40.968122	10	11	0.411765	1	0	0	0	0	1	0	0	0	--	--		0	T			SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron	228	GBM-32-1970-TP	p.R256H	C	GGCCTGCAGGCGCTGCAGGGC	NM_182854	NP_878274	50707501	Q7Z614	SNX20_HUMAN	0			4	940	-	T	T			Missense_Mutation	256						
SNX24	0	broad.mit.edu	GRCh37	5	122281829	122281829	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01	TCGA-15-0742-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261369.4:c.224G>A	p.Arg75Gln	p.R75Q	ENST00000261369	NM_014035.2	75	cGa/cAa	0			1			A	R/Q	uc011cwo.1	protein_coding	YES	CCDS4132.1			224/510										0	c.(223-225)CGA>CAA			Gene3D:3.30.1520.10,Pfam_domain:PF00787,PROSITE_profiles:PS50195,hmmpanther:PTHR15813,hmmpanther:PTHR15813:SF10,SMART_domains:SM00312,Superfamily_domains:SSF64268	SBBI31 protein				ENSP00000261369		7-Mar									COSM3409683,COSM3409684	7-Mar	.		ENST00000261369	Transcript			cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	ENSG00000064652	g.chr5:122281829G>A	21533			MODERATE		2.485	medium	getma.org/?cm=msa&ty=f&p=SNX24_HUMAN&rb=4&re=103&var=R75Q	getma.org/pdb.php?prot=SNX24_HUMAN&from=4&to=103&var=R75Q	getma.org/?cm=var&var=hg19,5,122281829,G,A&fts=all	R75Q	--	--	1																																		SNX24_uc003ktf.2_Missense_Mutation_p.R75Q|SNX24_uc010jcy.2_Missense_Mutation_p.R75Q	1,1	1		probably_damaging(0.998)	p.R75Q	NM_014035	NP_054754		deleterious(0)	1,1	SNX24_HUMAN	SNX24	HGNC	Q9Y343	SNX24_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)			3	393	+		Prostate(80;0.0387)	UPI0000135B54	75			PX.		SNV	SNX24,missense_variant,p.Arg75Gln,ENST00000261369,NM_014035.2;SNX24,missense_variant,p.Arg75Gln,ENST00000513881,;SNX24,missense_variant,p.Arg108Gln,ENST00000395451,;SNX24,missense_variant,p.Arg75Gln,ENST00000506996,;SNX24,non_coding_transcript_exon_variant,,ENST00000511211,;SNX24,non_coding_transcript_exon_variant,,ENST00000513613,;SNX24,non_coding_transcript_exon_variant,,ENST00000510914,;SNX24,non_coding_transcript_exon_variant,,ENST00000502387,;SNX24,upstream_gene_variant,,ENST00000507364,;SNX24,missense_variant,p.Arg55Gln,ENST00000503149,;SNX24,3_prime_UTR_variant,,ENST00000511545,;	uc011cwo.1	c.224G>A	409/2158	1	1			c.224G>A						5	SNP	c.(223-225)CGA>CAA	52	52				0	Broad	SBBI31 protein			122281829		0.348	ENSG00000064652	14666	g.chr5:122281829G>A	cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding							113.561341	KEEP	19	21	-1	28	29	19	21	-1	113.821052	28	29	0.440476	1	0	0	0	0	1	0	0	0	--	--		0	A			SNX24_uc003ktf.2_Missense_Mutation_p.R75Q|SNX24_uc010jcy.2_Missense_Mutation_p.R75Q	153	GBM-15-0742-TP	p.R75Q	G	GAACAGCGACGACAAGGCTTG	NM_014035	NP_054754	122281829	Q9Y343	SNX24_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)	3	393	+	A	A		Prostate(80;0.0387)	Missense_Mutation	75			PX.			
SNX29	92017		GRCh37	16	12220512	12220512	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-2510-01	TCGA-28-2510-01																				ENST00000566228.1:c.1425G>A	p.Val475=	p.V475=	ENST00000566228	NM_032167.3	475	gtG/gtA	0																																																																																																																																																																																																																																												
SNX30	0	broad.mit.edu	GRCh37	9	115580093	115580093	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G			TCGA-41-5651-01	TCGA-41-5651-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374232.3:c.457C>G	p.Pro153Ala	p.P153A	ENST00000374232	NM_001012994.1	153	Ccc/Gcc	0			1			G	P/A	uc004bgj.3	protein_coding	YES	CCDS43865.1			457/1314										0	c.(457-459)CCC>GCC			Gene3D:3.30.1520.10,Pfam_domain:PF00787,PROSITE_profiles:PS50195,hmmpanther:PTHR10555,hmmpanther:PTHR10555:SF123,SMART_domains:SM00312,Superfamily_domains:SSF64268	sorting nexin family member 30				ENSP00000363349		9-Mar									COSM3413269	9-Mar	.		ENST00000374232	Transcript			cell communication|protein transport	cytoplasm	phosphatidylinositol binding	ENSG00000148158	g.chr9:115580093C>G	23685			MODERATE		3.06	medium	getma.org/?cm=msa&ty=f&p=SNX30_HUMAN&rb=90&re=206&var=P153A	getma.org/pdb.php?prot=SNX30_HUMAN&from=90&to=206&var=P153A	getma.org/?cm=var&var=hg19,9,115580093,C,G&fts=all	P153A	--	--	1																																			1	1		probably_damaging(0.992)	p.P153A	NM_001012994	NP_001013012		deleterious(0.01)	1	SNX30_HUMAN	SNX30	HGNC	Q5VWJ9	SNX30_HUMAN					3	605	+			UPI0000457796	153			PX.		SNV	SNX30,missense_variant,p.Pro153Ala,ENST00000374232,NM_001012994.1;	uc004bgj.3	c.457C>G	621/7622	4	4			c.457C>G						9	SNP	c.(457-459)CCC>GCC	28	28				0	Broad	sorting nexin family member 30			115580093		0.458	ENSG00000148158	14671	g.chr9:115580093C>G	cell communication|protein transport	cytoplasm	phosphatidylinositol binding							68.125187	KEEP	8	12	-1	9	12	8	12	-1	68.125187	9	12	0.5	1	0	0	0	0	1	0	0	0	--	--		0	G				258	GBM-41-5651-TP	p.P153A	C	TCATCTCATTCCCGTAGGTAG	NM_001012994	NP_001013012	115580093	Q5VWJ9	SNX30_HUMAN	0			3	605	+	G	G			Missense_Mutation	153			PX.			
SNX32	254122	broad.mit.edu	GRCh37	11	65617743	65617744	+	splice_donor_variant	Splice_Site	INS	-	-	T			TCGA-06-6388-01	TCGA-06-6388-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308342.6:c.374+2dup		p.X125_splice	ENST00000308342	NM_152760.2	125		0			1			T		uc001ofr.2	protein_coding	YES	CCDS8113.2			374/1212										0	c.e4+1				sorting nexin 6B				ENSP00000310620													.		ENST00000308342	Transcript			cell communication|protein transport		phosphatidylinositol binding	ENSG00000172803	g.chr11:65617743_65617744insT	26423	1		HIGH	12-Apr							--	--	1																																		SNX32_uc010rop.1_3'UTR		1			p.A125_splice	NM_152760	NP_689973				SNX32_HUMAN	SNX32	HGNC	Q86XE0	SNX32_HUMAN		READ - Rectum adenocarcinoma(159;0.171)			4	501	+			UPI000000DAEA						insertion	SNX32,splice_donor_variant,,ENST00000308342,NM_152760.2;CFL1,downstream_gene_variant,,ENST00000525451,;CFL1,downstream_gene_variant,,ENST00000308162,NM_005507.2;CFL1,downstream_gene_variant,,ENST00000531407,;CFL1,downstream_gene_variant,,ENST00000527344,;CFL1,downstream_gene_variant,,ENST00000524553,;CFL1,downstream_gene_variant,,ENST00000534769,;CFL1,downstream_gene_variant,,ENST00000531413,;CFL1,intron_variant,,ENST00000527752,;SNX32,downstream_gene_variant,,ENST00000531795,;SNX32,splice_donor_variant,,ENST00000530101,;SNX32,splice_donor_variant,,ENST00000533236,;SNX32,non_coding_transcript_exon_variant,,ENST00000526972,;SNX32,non_coding_transcript_exon_variant,,ENST00000533298,;SNX32,non_coding_transcript_exon_variant,,ENST00000534387,;CFL1,downstream_gene_variant,,ENST00000530945,;SNX32,downstream_gene_variant,,ENST00000531503,;SNX32,downstream_gene_variant,,ENST00000524729,;	uc001ofr.2	c.374_splice	-/2003	5	5			c.374_splice						11	INS	c.e4+1	24	24				0	Broad	sorting nexin 6B			65617744		0.554	ENSG00000172803	14673	g.chr11:65617743_65617744insT	cell communication|protein transport		phosphatidylinositol binding																				0.24	1	0	0	1	1	0	0	0	1	--	--		0	T			SNX32_uc010rop.1_3'UTR	104	GBM-06-6388-TP	p.A125_splice	-	AGCTGGAAGCGTGAGTGCCCCC	NM_152760	NP_689973	65617743	Q86XE0	SNX32_HUMAN	0		READ - Rectum adenocarcinoma(159;0.171)	4	501	+	T	T			Splice_Site							
SNX33	257364		GRCh37	15	75941713	75941713	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000308527.5:c.270G>A	p.Val90=	p.V90=	ENST00000308527	NM_153271.1	90	gtG/gtA	0																																																																																																																																																																																																																																												
SNX5	0	broad.mit.edu	GRCh37	20	17929612	17929612	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5951-01	TCGA-19-5951-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377759.4:c.840G>A	p.Glu280=	p.E280=	ENST00000377759	NM_014426.2	280	gaG/gaA	0			1			T	E	uc002wqc.2	protein_coding		CCDS13130.1			840/1215									large_intestine(1)	1	c.(838-840)GAG>GAA			Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF103657,PIRSF_domain:PIRSF036924,Pfam_domain:PF09325,hmmpanther:PTHR10555:SF6,hmmpanther:PTHR10555	sorting nexin 5				ENSP00000366988		13-Oct									COSM2156603	13-Oct	.		ENST00000377759	Transcript			cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding	ENSG00000089006	g.chr20:17929612C>T	14969			LOW								--	--	1																																		SNX5_uc002wqb.2_RNA|SNX5_uc002wqd.2_Silent_p.E280E|SNX5_uc002wqe.2_Silent_p.E175E|SNX5_uc010zrt.1_Silent_p.E280E	1				p.E280E	NM_014426	NP_055241			1	SNX5_HUMAN	SNX5	HGNC	Q9Y5X3	SNX5_HUMAN					10	926	-			UPI0000135B43	280			BAR.		SNV	SNX5,synonymous_variant,p.=,ENST00000377768,NM_152227.1;SNX5,synonymous_variant,p.=,ENST00000377759,NM_014426.2;SNX5,synonymous_variant,p.=,ENST00000431277,;SNX5,downstream_gene_variant,,ENST00000419004,;SNX5,non_coding_transcript_exon_variant,,ENST00000483485,;SNX5,non_coding_transcript_exon_variant,,ENST00000490175,;SNX5,non_coding_transcript_exon_variant,,ENST00000476648,;SNX5,upstream_gene_variant,,ENST00000491090,;SNX5,downstream_gene_variant,,ENST00000474883,;SNX5,downstream_gene_variant,,ENST00000494401,;SNX5,non_coding_transcript_exon_variant,,ENST00000463050,;SNX5,upstream_gene_variant,,ENST00000606570,;	uc002wqc.2	c.840G>A	1135/2270	1	1			c.840G>A						20	SNP	c.(838-840)GAG>GAA	3	3			large_intestine(1)	1	Broad	sorting nexin 5			17929612		0.383	ENSG00000089006	14676	g.chr20:17929612C>T	cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding							110.286476	KEEP	19	20	-1	46	57	19	20	-1	116.559327	46	57	0.275362	1	0	0	0	0	0	0	1	0	--	--		0	T			SNX5_uc002wqb.2_RNA|SNX5_uc002wqd.2_Silent_p.E280E|SNX5_uc002wqe.2_Silent_p.E175E|SNX5_uc010zrt.1_Silent_p.E280E	171	GBM-19-5951-TP	p.E280E	C	AAACTCGACCCTCTACTTTCT	NM_014426	NP_055241	17929612	Q9Y5X3	SNX5_HUMAN	0			10	926	-	T	T			Silent	280			BAR.			
SNX7	0	broad.mit.edu	GRCh37	1	99203845	99203845	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306121.3:c.1178C>T	p.Ala393Val	p.A393V	ENST00000306121	NM_015976.4	393	gCc/gTc	0			1			T	A/V	uc010ouc.1	protein_coding	YES	CCDS755.2			1178/1356									ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3	c.(1177-1179)GCC>GTC			hmmpanther:PTHR10555:SF21,hmmpanther:PTHR10555	sorting nexin 7 isoform a				ENSP00000304429		9-Aug									COSM3401110,COSM3401109	9-Aug	.		ENST00000306121	Transcript			cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	ENSG00000162627	g.chr1:99203845C>T	14971			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=SNX7_HUMAN&rb=148&re=347&var=A329V	NA	getma.org/?cm=var&var=hg19,1,99203845,C,T&fts=all	A329V	--	--	1																																		SNX7_uc001dsa.2_Intron|SNX7_uc010oud.1_Missense_Mutation_p.A338V	1,1	1		probably_damaging(0.955)	p.A393V	NM_015976	NP_057060		tolerated(0.14)	1,1	SNX7_HUMAN	SNX7	HGNC	Q9UNH6	SNX7_HUMAN		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)	B7ZC83_HUMAN		8	1230	+		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)	UPI0000205396	329					SNV	SNX7,missense_variant,p.Ala393Val,ENST00000306121,NM_015976.4;SNX7,missense_variant,p.Ala338Val,ENST00000529992,NM_152238.3;SNX7,intron_variant,,ENST00000370189,;SNX7,intron_variant,,ENST00000528824,;	uc010ouc.1	c.1178C>T	1187/1734	2	2			c.1178C>T						1	SNP	c.(1177-1179)GCC>GTC	38	38			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3	Broad	sorting nexin 7 isoform a			99203845		0.348	ENSG00000162627	14678	g.chr1:99203845C>T	cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding							-38.926108	KEEP	3	1	-1	88	101	3	1	-1	6.890658	88	101	0.022222	1	0	0	0	0	1	0	0	0	--	--		0	T			SNX7_uc001dsa.2_Intron|SNX7_uc010oud.1_Missense_Mutation_p.A338V	271	GBM-76-4932-TP	p.A393V	C	GCTAATAATGCCCTGAAAGCA	NM_015976	NP_057060	99203845	Q9UNH6	SNX7_HUMAN	0		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)	8	1230	+	T	T		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)	Missense_Mutation	329						
SNX9	51429	broad.mit.edu	GRCh37	6	158331016	158331016	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0192-01	TCGA-06-0192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392185.3:c.908C>T	p.Ser303Leu	p.S303L	ENST00000392185	NM_016224.4	303	tCa/tTa	0			1			T	S/L	uc003qqv.1	protein_coding	YES	CCDS5253.1			908/1788										0	c.(907-909)TCA>TTA			PROSITE_profiles:PS50195,hmmpanther:PTHR10555,hmmpanther:PTHR10555:SF14,Pfam_domain:PF00787,Gene3D:3.30.1520.10,PIRSF_domain:PIRSF027744,SMART_domains:SM00312,Superfamily_domains:SSF64268	sorting nexin 9				ENSP00000376024		18-Sep									COSM2150670	18-Sep	.		ENST00000392185	Transcript			cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	ENSG00000130340	g.chr6:158331016C>T	14973			MODERATE		1.115	low	getma.org/?cm=msa&ty=f&p=SNX9_HUMAN&rb=247&re=357&var=S303L	getma.org/pdb.php?prot=SNX9_HUMAN&from=247&to=357&var=S303L	getma.org/?cm=var&var=hg19,6,158331016,C,T&fts=all	S303L	--	--	1																																			1	1		benign(0.01)	p.S303L	NM_016224	NP_057308		tolerated(0.1)	1	SNX9_HUMAN	SNX9	HGNC	Q9Y5X1	SNX9_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)	B3KXH8_HUMAN		9	1081	+		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)	UPI0000135B47	303			PX.		SNV	SNX9,missense_variant,p.Ser303Leu,ENST00000392185,NM_016224.4;	uc003qqv.1	c.908C>T	1079/4198	2	2			c.908C>T						6	SNP	c.(907-909)TCA>TTA	45	45				0	Broad	sorting nexin 9			158331016		0.408	ENSG00000130340	14680	g.chr6:158331016C>T	cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding							52.532542	KEEP	12	17	-1	71	49	12	17	-1	65.081783	71	49	0.191489	1	0	0	0	0	1	0	0	0	--	--		0	T				44	GBM-06-0192-TP	p.S303L	C	AAGTTTGGGTCAGCCATTCCA	NM_016224	NP_057308	158331016	Q9Y5X1	SNX9_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)	9	1081	+	T	T		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)	Missense_Mutation	303			PX.			
SNX9	51429	broad.mit.edu	GRCh37	6	158342573	158342573	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0745-01	TCGA-06-0745-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392185.3:c.960A>T	p.Glu320Asp	p.E320D	ENST00000392185	NM_016224.4	320	gaA/gaT	0			1			T	E/D	uc003qqv.1	protein_coding	YES	CCDS5253.1			960/1788										0	c.(958-960)GAA>GAT			PROSITE_profiles:PS50195,hmmpanther:PTHR10555,hmmpanther:PTHR10555:SF14,Pfam_domain:PF00787,Gene3D:3.30.1520.10,PIRSF_domain:PIRSF027744,SMART_domains:SM00312,Superfamily_domains:SSF64268	sorting nexin 9				ENSP00000376024		18-Oct									COSM2151705	18-Oct	.		ENST00000392185	Transcript			cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	ENSG00000130340	g.chr6:158342573A>T	14973			MODERATE		-0.07	neutral	getma.org/?cm=msa&ty=f&p=SNX9_HUMAN&rb=247&re=357&var=E320D	getma.org/pdb.php?prot=SNX9_HUMAN&from=247&to=357&var=E320D	getma.org/?cm=var&var=hg19,6,158342573,A,T&fts=all	E320D	--	--	1																																			1	1		probably_damaging(0.95)	p.E320D	NM_016224	NP_057308		tolerated(0.05)	1	SNX9_HUMAN	SNX9	HGNC	Q9Y5X1	SNX9_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)	B3KXH8_HUMAN		10	1133	+		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)	UPI0000135B47	320			PX.		SNV	SNX9,missense_variant,p.Glu320Asp,ENST00000392185,NM_016224.4;HSPE1P26,upstream_gene_variant,,ENST00000405341,;	uc003qqv.1	c.960A>T	1131/4198	1	1			c.960A>T						6	SNP	c.(958-960)GAA>GAT	6	6				0	Broad	sorting nexin 9			158342573		0.423	ENSG00000130340	14680	g.chr6:158342573A>T	cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding							115.534392	KEEP	22	18	-1	29	27	22	18	-1	116.009615	29	27	0.422222	1	0	0	0	0	1	0	0	0	--	--		0	T				67	GBM-06-0745-TP	p.E320D	A	GCCGCTTTGAAGAGGAATTTA	NM_016224	NP_057308	158342573	Q9Y5X1	SNX9_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)	10	1133	+	T	T		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)	Missense_Mutation	320			PX.			
SNX9	51429	broad.mit.edu	GRCh37	6	158357061	158357061	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0939-01	TCGA-06-0939-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392185.3:c.1432G>T	p.Val478Leu	p.V478L	ENST00000392185	NM_016224.4	478	Gtg/Ttg	0			1			T	V/L	uc003qqv.1	protein_coding	YES	CCDS5253.1			1432/1788										0	c.(1432-1434)GTG>TTG			hmmpanther:PTHR10555,hmmpanther:PTHR10555:SF14,Pfam_domain:PF10456,PIRSF_domain:PIRSF027744	sorting nexin 9				ENSP00000376024		14/18									COSM2152444	14/18	.		ENST00000392185	Transcript			cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	ENSG00000130340	g.chr6:158357061G>T	14973			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=SNX9_HUMAN&rb=358&re=593&var=V478L	getma.org/pdb.php?prot=SNX9_HUMAN&from=358&to=593&var=V478L	getma.org/?cm=var&var=hg19,6,158357061,G,T&fts=all	V478L	--	--	1																																			1	1		probably_damaging(0.998)	p.V478L	NM_016224	NP_057308		deleterious(0.05)	1	SNX9_HUMAN	SNX9	HGNC	Q9Y5X1	SNX9_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)	B3KXH8_HUMAN		14	1605	+		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)	UPI0000135B47	478			BAR.		SNV	SNX9,missense_variant,p.Val478Leu,ENST00000392185,NM_016224.4;RNU6-786P,downstream_gene_variant,,ENST00000516849,;	uc003qqv.1	c.1432G>T	1603/4198	2	2			c.1432G>T						6	SNP	c.(1432-1434)GTG>TTG	21	21				0	Broad	sorting nexin 9			158357061		0.348	ENSG00000130340	14680	g.chr6:158357061G>T	cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding							58.233001	KEEP	15	10	0.6	37	43	15	10	0.6	63.182103	37	43	0.247059	1	0	0	0	0	1	0	0	0	--	--		0	T				78	GBM-06-0939-TP	p.V478L	G	TGCCAGTCTCGTGGCAGAACA	NM_016224	NP_057308	158357061	Q9Y5X1	SNX9_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)	14	1605	+	T	T		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)	Missense_Mutation	478			BAR.			
SOAT1	6646	broad.mit.edu	GRCh37	1	179310266	179310266	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0649-01	TCGA-06-0649-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367619.3:c.601T>G	p.Phe201Val	p.F201V	ENST00000367619	NM_003101.5	201	Ttt/Gtt	0			1			G	F/V	uc001gml.2	protein_coding	YES	CCDS1330.1			601/1653									central_nervous_system(1)|skin(1)	2	c.(601-603)TTT>GTT			Pfam_domain:PF03062,PIRSF_domain:PIRSF000439,PIRSF_domain:PIRSF500230,hmmpanther:PTHR10408,hmmpanther:PTHR10408:SF6,Transmembrane_helices:TMhelix	sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)			ENSP00000356591		16-Jul									COSM2151448	16-Jul	.		ENST00000367619	Transcript			cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	ENSG00000057252	g.chr1:179310266T>G	11177			MODERATE		0.055	neutral	getma.org/?cm=msa&ty=f&p=SOAT1_HUMAN&rb=171&re=520&var=F201V	NA	getma.org/?cm=var&var=hg19,1,179310266,T,G&fts=all	F201V	--	--	1																																		SOAT1_uc010pni.1_Missense_Mutation_p.F136V|SOAT1_uc001gmm.2_Missense_Mutation_p.F143V|SOAT1_uc010pnj.1_Translation_Start_Site|SOAT1_uc010pnk.1_Missense_Mutation_p.F136V	1	1		benign(0.004)	p.F201V	NM_003101	NP_003092		tolerated(0.51)	1	SOAT1_HUMAN	SOAT1	HGNC	P35610	SOAT1_HUMAN			B4DFD8_HUMAN,B1APM4_HUMAN		7	664	+			UPI0000071233	201					SNV	SOAT1,missense_variant,p.Phe201Val,ENST00000367619,NM_003101.5;SOAT1,missense_variant,p.Phe143Val,ENST00000540564,NM_001252511.1;SOAT1,missense_variant,p.Phe136Val,ENST00000539888,NM_001252512.1;SOAT1,missense_variant,p.Phe201Val,ENST00000426956,;SOAT1,5_prime_UTR_variant,,ENST00000535686,;	uc001gml.2	c.601T>G	744/6835	3	3			c.601T>G						1	SNP	c.(601-603)TTT>GTT	62	62			central_nervous_system(1)|skin(1)	2	Broad	sterol O-acyltransferase 1		Ezetimibe(DB00973)|Hesperetin(DB01094)	179310266		0.448	ENSG00000057252	14681	g.chr1:179310266T>G	cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding							161.652086	KEEP	41	20	-1	139	73	41	20	-1	178.132571	139	73	0.227273	1	0	0	0	0	1	0	0	0	--	--		0	G			SOAT1_uc010pni.1_Missense_Mutation_p.F136V|SOAT1_uc001gmm.2_Missense_Mutation_p.F143V|SOAT1_uc010pnj.1_Translation_Start_Site|SOAT1_uc010pnk.1_Missense_Mutation_p.F136V	62	GBM-06-0649-TP	p.F201V	T	AGTTCCCTATTTTCTGTTTCA	NM_003101	NP_003092	179310266	P35610	SOAT1_HUMAN	0			7	664	+	G	G			Missense_Mutation	201						
SOAT1	6646	broad.mit.edu	GRCh37	1	179304764	179304764	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2561-01	TCGA-06-2561-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367619.3:c.301G>A	p.Glu101Lys	p.E101K	ENST00000367619	NM_003101.5	101	Gaa/Aaa	0			1			A	E/K	uc001gml.2	protein_coding	YES	CCDS1330.1			301/1653									central_nervous_system(1)|skin(1)	2	c.(301-303)GAA>AAA			PIRSF_domain:PIRSF000439,PIRSF_domain:PIRSF500230,hmmpanther:PTHR10408,hmmpanther:PTHR10408:SF6	sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)			ENSP00000356591		16-Apr									COSM344896	16-Apr	.		ENST00000367619	Transcript			cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	ENSG00000057252	g.chr1:179304764G>A	11177			MODERATE		0.41	neutral	getma.org/?cm=msa&ty=f&p=SOAT1_HUMAN&rb=1&re=170&var=E101K	NA	getma.org/?cm=var&var=hg19,1,179304764,G,A&fts=all	E101K	--	--	1																																		SOAT1_uc010pni.1_Missense_Mutation_p.E36K|SOAT1_uc001gmm.2_Missense_Mutation_p.E43K|SOAT1_uc010pnj.1_5'UTR|SOAT1_uc010pnk.1_Missense_Mutation_p.E36K	1	1		benign(0.001)	p.E101K	NM_003101	NP_003092		tolerated(0.89)	1	SOAT1_HUMAN	SOAT1	HGNC	P35610	SOAT1_HUMAN			B4DFD8_HUMAN,B1APM4_HUMAN		4	364	+			UPI0000071233	101					SNV	SOAT1,missense_variant,p.Glu101Lys,ENST00000367619,NM_003101.5;SOAT1,missense_variant,p.Glu43Lys,ENST00000540564,NM_001252511.1;SOAT1,missense_variant,p.Glu36Lys,ENST00000539888,NM_001252512.1;SOAT1,missense_variant,p.Glu101Lys,ENST00000426956,;SOAT1,5_prime_UTR_variant,,ENST00000535686,;	uc001gml.2	c.301G>A	444/6835	1	1			c.301G>A						1	SNP	c.(301-303)GAA>AAA	55	55			central_nervous_system(1)|skin(1)	2	Broad	sterol O-acyltransferase 1		Ezetimibe(DB00973)|Hesperetin(DB01094)	179304764		0.318	ENSG00000057252	14681	g.chr1:179304764G>A	cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding							111.966516	KEEP	25	27	-1	52	82	25	27	-1	119.721712	52	82	0.27381	1	0	0	0	0	1	0	0	0	--	--		0	A			SOAT1_uc010pni.1_Missense_Mutation_p.E36K|SOAT1_uc001gmm.2_Missense_Mutation_p.E43K|SOAT1_uc010pnj.1_5'UTR|SOAT1_uc010pnk.1_Missense_Mutation_p.E36K	84	GBM-06-2561-TP	p.E101K	G	TTCTGTTCTTGAAGGAGAGAA	NM_003101	NP_003092	179304764	P35610	SOAT1_HUMAN	0			4	364	+	A	A			Missense_Mutation	101						
SOAT1	6646	broad.mit.edu	GRCh37	1	179304793	179304793	+	splice_donor_variant	Splice_Site	SNP	G	G	C			TCGA-06-2561-01	TCGA-06-2561-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367619.3:c.329+1G>C		p.X110_splice	ENST00000367619	NM_003101.5	110		0			1			C		uc001gml.2	protein_coding	YES	CCDS1330.1			329/1653									central_nervous_system(1)|skin(1)	2	c.e4+1				sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)			ENSP00000356591											COSM2152758		.		ENST00000367619	Transcript			cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	ENSG00000057252	g.chr1:179304793G>C	11177			HIGH	15-Apr							--	--	1																																		SOAT1_uc010pni.1_Splice_Site_p.K45_splice|SOAT1_uc001gmm.2_Splice_Site_p.K52_splice|SOAT1_uc010pnj.1_Splice_Site|SOAT1_uc010pnk.1_Splice_Site_p.K45_splice	1	1			p.K110_splice	NM_003101	NP_003092			1	SOAT1_HUMAN	SOAT1	HGNC	P35610	SOAT1_HUMAN			B4DFD8_HUMAN,B1APM4_HUMAN		4	392	+			UPI0000071233						SNV	SOAT1,splice_donor_variant,,ENST00000367619,NM_003101.5;SOAT1,splice_donor_variant,,ENST00000540564,NM_001252511.1;SOAT1,splice_donor_variant,,ENST00000535686,;SOAT1,splice_donor_variant,,ENST00000539888,NM_001252512.1;SOAT1,splice_donor_variant,,ENST00000426956,;	uc001gml.2	c.329_splice	-/6835	5	3			c.329_splice						1	SNP	c.e4+1	7	7			central_nervous_system(1)|skin(1)	2	Broad	sterol O-acyltransferase 1		Ezetimibe(DB00973)|Hesperetin(DB01094)	179304793		0.259	ENSG00000057252	14681	g.chr1:179304793G>C	cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding							102.267609	KEEP	22	22	-1	48	86	22	22	-1	112.746451	48	86	0.225166	1	0	0	0	0	0	0	0	1	--	--		0	C			SOAT1_uc010pni.1_Splice_Site_p.K45_splice|SOAT1_uc001gmm.2_Splice_Site_p.K52_splice|SOAT1_uc010pnj.1_Splice_Site|SOAT1_uc010pnk.1_Splice_Site_p.K45_splice	84	GBM-06-2561-TP	p.K110_splice	G	ATAGAGCGAAGTAAGTATGTG	NM_003101	NP_003092	179304793	P35610	SOAT1_HUMAN	0			4	392	+	C	C			Splice_Site							
SOAT2	0	broad.mit.edu	GRCh37	12	53516999	53516999	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G			TCGA-19-5954-01	TCGA-19-5954-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301466.3:c.1371A>G	p.Gly457=	p.G457=	ENST00000301466	NM_003578.3	457	ggA/ggG	0			1			G	G	uc001sbv.2	protein_coding	YES	CCDS8847.1			1371/1569									ovary(1)	1	c.(1369-1371)GGA>GGG			Pfam_domain:PF03062,PIRSF_domain:PIRSF000439,PIRSF_domain:PIRSF500230,hmmpanther:PTHR10408,hmmpanther:PTHR10408:SF10,Transmembrane_helices:TMhelix	acyl-CoA:cholesterol acyltransferase 2				ENSP00000301466		13/15									COSM3398839	13/15	.		ENST00000301466	Transcript			cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	ENSG00000167780	g.chr12:53516999A>G	11178			LOW								--	--	1																																		SOAT2_uc009zms.2_RNA	1	1			p.G457G	NM_003578	NP_003569			1	SOAT2_HUMAN	SOAT2	HGNC	O75908	SOAT2_HUMAN					13	1459	+			UPI0000135B61	457			Helical; (Potential).		SNV	SOAT2,splice_region_variant,p.=,ENST00000301466,NM_003578.3;SOAT2,splice_region_variant,,ENST00000542365,;	uc001sbv.2	c.1371A>G	1431/2044	4	4			c.1371A>G						12	SNP	c.(1369-1371)GGA>GGG	20	20			ovary(1)	1	Broad	acyl-CoA:cholesterol acyltransferase 2			53516999		0.582	ENSG00000167780	14682	g.chr12:53516999A>G	cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding							-9.73336	KEEP	4	1	-1	36	46	4	1	-1	7.645263	36	46	0.039474	1	0	0	0	0	0	0	1	0	--	--		0	G			SOAT2_uc009zms.2_RNA	174	GBM-19-5954-TP	p.G457G	A	TTGTCATTGGAGGTGAGCTGG	NM_003578	NP_003569	53516999	O75908	SOAT2_HUMAN	0			13	1459	+	G	G			Silent	457			Helical; (Potential).			
SOCS2	0	broad.mit.edu	GRCh37	12	93968661	93968661	+	synonymous_variant	Silent	SNP	C	C	T	rs148086876		TCGA-12-0615-01	TCGA-12-0615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340600.2:c.303C>T	p.Asp101=	p.D101=	ENST00000340600	NM_003877.4	101	gaC/gaT	0	T:0		1			T	D	uc001tcw.1	protein_coding	YES	CCDS9047.1			303/597									lung(1)	1	c.(301-303)GAC>GAT			Gene3D:3.30.505.10,Pfam_domain:PF00017,PROSITE_profiles:PS50001,hmmpanther:PTHR10385,hmmpanther:PTHR10385:SF27,SMART_domains:SM00252,Superfamily_domains:SSF55550	suppressor of cytokine signaling-2			T:0.0001	ENSP00000339428		3-Mar	6.59E-05				0.000302	8.99E-05			rs148086876,COSM2045584	3-Mar	.		ENST00000340600	Transcript			anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity	ENSG00000120833	g.chr12:93968661C>T	19382			LOW								--	--	1																																		SOCS2_uc001tcx.1_Silent_p.D101D|SOCS2_uc009zsu.2_3'UTR|SOCS2_uc001tcy.1_Silent_p.D101D|SOCS2_uc001tcz.2_3'UTR	0,1	1			p.D101D	NM_003877	NP_003868			0,1	SOCS2_HUMAN	SOCS2	HGNC	O14508	SOCS2_HUMAN			F8VU91_HUMAN,F8VRV3_HUMAN,B4DMW5_HUMAN		3	893	+			UPI0000135B63	101			SH2.		SNV	SOCS2,synonymous_variant,p.=,ENST00000340600,NM_003877.4,NM_001270469.1,NM_001270468.1,NM_001270471.1;SOCS2,synonymous_variant,p.=,ENST00000549122,;SOCS2,synonymous_variant,p.=,ENST00000549206,NM_001270467.1;SOCS2,synonymous_variant,p.=,ENST00000551556,;SOCS2,synonymous_variant,p.=,ENST00000536696,;SOCS2,synonymous_variant,p.=,ENST00000549887,;SOCS2,synonymous_variant,p.=,ENST00000548091,;SOCS2,3_prime_UTR_variant,,ENST00000548537,;SOCS2,upstream_gene_variant,,ENST00000551883,;SOCS2,upstream_gene_variant,,ENST00000549510,;SOCS2,downstream_gene_variant,,ENST00000547229,;SOCS2-AS1,upstream_gene_variant,,ENST00000499137,;SOCS2-AS1,upstream_gene_variant,,ENST00000500986,;SOCS2-AS1,upstream_gene_variant,,ENST00000551626,;	uc001tcw.1	c.303C>T	901/2761	1	1			c.303C>T						12	SNP	c.(301-303)GAC>GAT	12	12			lung(1)	1	Broad	suppressor of cytokine signaling-2			93968661		0.378	ENSG00000120833	14685	g.chr12:93968661C>T	anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity							136.24726	KEEP	36	20	-1	31	56	36	20	-1	137.66979	31	56	0.383333	1	0	0	0	0	0	0	1	0	--	--		0	T			SOCS2_uc001tcx.1_Silent_p.D101D|SOCS2_uc009zsu.2_3'UTR|SOCS2_uc001tcy.1_Silent_p.D101D|SOCS2_uc001tcz.2_3'UTR	117	GBM-12-0615-TP	p.D101D	C	AATACCAAGACGGAAAATTCA	NM_003877	NP_003868	93968661	O14508	SOCS2_HUMAN	0			3	893	+	T	T			Silent	101			SH2.			
SOCS4	122809	broad.mit.edu	GRCh37	14	55510054	55510054	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01	TCGA-06-2565-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395472.2:c.295G>A	p.Val99Met	p.V99M	ENST00000395472	NM_080867.2	99	Gtg/Atg	0	A:0		1			A	V/M	uc001xbo.2	protein_coding		CCDS9722.1			295/1323									ovary(1)|kidney(1)	2	c.(295-297)GTG>ATG			Pfam_domain:PF12610,hmmpanther:PTHR10385,hmmpanther:PTHR10385:SF29	suppressor of cytokine signaling 4			A:0.0002	ENSP00000341327		2-Feb	0.000132	9.62E-05		0.000116		0.00021			rs199994483,COSM3401356	2-Feb	.		ENST00000339298	Transcript			intracellular signal transduction|negative regulation of signal transduction|regulation of growth			ENSG00000180008	g.chr14:55510054G>A	19392			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=SOCS4_HUMAN&rb=57&re=112&var=V99M	NA	getma.org/?cm=var&var=hg19,14,55510054,G,A&fts=all	V99M	--	--	1																																		SOCS4_uc001xbp.2_Missense_Mutation_p.V99M	0,1			benign(0.019)	p.V99M	NM_199421	NP_955453		tolerated(0.27)	0,1	SOCS4_HUMAN	SOCS4	HGNC	Q8WXH5	SOCS4_HUMAN			Q5H9R6_HUMAN		3	860	+			UPI000000CC33	99					SNV	SOCS4,missense_variant,p.Val99Met,ENST00000395472,NM_080867.2,NM_199421.1;SOCS4,missense_variant,p.Val99Met,ENST00000339298,;SOCS4,missense_variant,p.Val99Met,ENST00000555846,;	uc001xbo.2	c.295G>A	517/6667	2	2			c.295G>A						14	SNP	c.(295-297)GTG>ATG	40	40			ovary(1)|kidney(1)	2	Broad	suppressor of cytokine signaling 4			55510054		0.423	ENSG00000180008	14687	g.chr14:55510054G>A	intracellular signal transduction|negative regulation of signal transduction|regulation of growth									-46.521761	KEEP	0	4	-1	105	105	0	4	-1	6.856191	105	105	0.019417	1	0	0	0	0	1	0	0	0	--	--		0	A			SOCS4_uc001xbp.2_Missense_Mutation_p.V99M	88	GBM-06-2565-TP	p.V99M	G	GCAAGATGCCGTGGGGCAGTG	NM_199421	NP_955453	55510054	Q8WXH5	SOCS4_HUMAN	0			3	860	+	A	A			Missense_Mutation	99						
SOCS5	0	broad.mit.edu	GRCh37	2	46987001	46987001	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-28-5207-01	TCGA-28-5207-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306503.5:c.1332G>T	p.Pro444=	p.P444=	ENST00000306503	NM_014011.4	444	ccG/ccT	0			1			T	P	uc002rvf.2	protein_coding	YES	CCDS1830.1			1332/1611									ovary(1)|lung(1)|central_nervous_system(1)	3	c.(1330-1332)CCG>CCT			Gene3D:3.30.505.10,PROSITE_profiles:PS50001,hmmpanther:PTHR10385,hmmpanther:PTHR10385:SF28,SMART_domains:SM00252,Superfamily_domains:SSF55550	suppressor of cytokine signaling 5				ENSP00000305133		2-Feb									COSM2157337	2-Feb	.		ENST00000306503	Transcript			cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			ENSG00000171150	g.chr2:46987001G>T	16852			LOW								--	--	1																																		SOCS5_uc010yoe.1_Silent_p.P413P|SOCS5_uc002rvg.2_Silent_p.P444P	1	1			p.P444P	NM_014011	NP_054730			1	SOCS5_HUMAN	SOCS5	HGNC	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		B4DL10_HUMAN		2	1496	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	UPI0000135B69	444			SH2.		SNV	SOCS5,synonymous_variant,p.=,ENST00000306503,NM_014011.4;SOCS5,synonymous_variant,p.=,ENST00000394861,NM_144949.2;	uc002rvf.2	c.1332G>T	1504/4771	2	2			c.1332G>T						2	SNP	c.(1330-1332)CCG>CCT	29	29			ovary(1)|lung(1)|central_nervous_system(1)	3	Broad	suppressor of cytokine signaling 5			46987001		0.443	ENSG00000171150	14688	g.chr2:46987001G>T	cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth									268.324116	KEEP	58	41	0.585858586	103	92	58	41	0.585858586	274.260405	103	92	0.338521	1	0	0	0	0	0	0	1	0	--	--		0	T			SOCS5_uc010yoe.1_Silent_p.P413P|SOCS5_uc002rvg.2_Silent_p.P444P	216	GBM-28-5207-TP	p.P444P	G	CCCATGACCCGTGTGTATTTC	NM_014011	NP_054730	46987001	O75159	SOCS5_HUMAN	0	LUSC - Lung squamous cell carcinoma(58;0.114)		2	1496	+	T	T		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Silent	444			SH2.			
SOCS6	9306	broad.mit.edu	GRCh37	18	67992070	67992070	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-2558-01	TCGA-06-2558-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397942.3:c.166A>G	p.Ile56Val	p.I56V	ENST00000397942	NM_004232.3	56	Atc/Gtc	0			1			G	I/V	uc002lkr.1	protein_coding	YES	CCDS11998.1			166/1608									large_intestine(1)|lung(1)	2	c.(166-168)ATC>GTC			hmmpanther:PTHR10385,hmmpanther:PTHR10385:SF25	suppressor of cytokine signaling 6				ENSP00000381034		2-Feb									COSM2152603	2-Feb	.		ENST00000397942	Transcript			defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		ENSG00000170677	g.chr18:67992070A>G	16833			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=SOCS6_HUMAN&rb=1&re=307&var=I56V	NA	getma.org/?cm=var&var=hg19,18,67992070,A,G&fts=all	I56V	--	--	1																																		SOCS6_uc010dqq.2_Missense_Mutation_p.I56V	1	1		benign(0)	p.I56V	NM_004232	NP_004223		tolerated_low_confidence(0.15)	1	SOCS6_HUMAN	SOCS6	HGNC	O14544	SOCS6_HUMAN			J3KTM7_HUMAN		2	482	+		Esophageal squamous(42;0.129)|Colorectal(73;0.152)	UPI0000072C28	56					SNV	SOCS6,missense_variant,p.Ile56Val,ENST00000397942,NM_004232.3;SOCS6,missense_variant,p.Ile56Val,ENST00000582322,;SOCS6,missense_variant,p.Ile56Val,ENST00000578377,;	uc002lkr.1	c.166A>G	482/5848	3	3			c.166A>G						18	SNP	c.(166-168)ATC>GTC	16	16			large_intestine(1)|lung(1)	2	Broad	suppressor of cytokine signaling 6			67992070		0.428	ENSG00000170677	14689	g.chr18:67992070A>G	defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		Melanoma(84;1024 1361 24382 36583 42651)			Melanoma(84;1024 1361 24382 36583 42651)			170.89195	KEEP	23	32	-1	34	56	23	32	-1	172.443376	34	56	0.385185	1	0	0	0	0	1	0	0	0	--	--		0	G			SOCS6_uc010dqq.2_Missense_Mutation_p.I56V	82	GBM-06-2558-TP	p.I56V	A	CAGCTGCGATATCAACGGTGA	NM_004232	NP_004223	67992070	O14544	SOCS6_HUMAN	0			2	482	+	G	G		Esophageal squamous(42;0.129)|Colorectal(73;0.152)	Missense_Mutation	56						
SOGA2	0	broad.mit.edu	GRCh37	18	8783917	8783917	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-16-0861-01	TCGA-16-0861-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306329.11:c.1887G>C	p.Glu629Asp	p.E629D	ENST00000306329		629	gaG/gaC	0			1			C	E/D	uc002knr.2	protein_coding					1887/5718										0	c.(805-807)GAG>GAC			hmmpanther:PTHR15742,hmmpanther:PTHR15742:SF3,Pfam_domain:PF11365	hypothetical protein LOC23255				ENSP00000305027		14-May									COSM3403694	14-May	.		ENST00000306329	Transcript						ENSG00000168502	g.chr18:8783917G>C	29121			MODERATE		2.095	medium	getma.org/?cm=msa&ty=f&p=CC165_HUMAN&rb=601&re=800&var=E629D	NA	getma.org/?cm=var&var=hg19,18,8783917,G,C&fts=all	E629D	--	--	1																																		KIAA0802_uc002knq.2_Missense_Mutation_p.E269D|KIAA0802_uc010dkw.1_Missense_Mutation_p.E107D	1			probably_damaging(0.973)	p.E269D	NM_015210	NP_056025		tolerated(0.13)	1	SOGA2_HUMAN	SOGA2	HGNC	Q9Y4B5	CC165_HUMAN			J3QLE1_HUMAN		6	949	+			UPI0001AE65C5	620			Potential.		SNV	SOGA2,missense_variant,p.Glu269Asp,ENST00000359865,NM_015210.3;SOGA2,missense_variant,p.Glu269Asp,ENST00000517570,;SOGA2,missense_variant,p.Glu269Asp,ENST00000400050,;SOGA2,missense_variant,p.Glu629Asp,ENST00000306329,;SOGA2,5_prime_UTR_variant,,ENST00000306285,;SOGA2,upstream_gene_variant,,ENST00000521018,;SOGA2,upstream_gene_variant,,ENST00000523811,;SOGA2,missense_variant,p.Glu111Asp,ENST00000520495,;SOGA2,upstream_gene_variant,,ENST00000517554,;	uc002knr.2	c.807G>C	1887/5718	3	3			c.807G>C						18	SNP	c.(805-807)GAG>GAC	8	8				0	Broad	hypothetical protein LOC23255			8783917		0.637	ENSG00000168502	8055	g.chr18:8783917G>C						468			468	-59.911241	KEEP	4	4	-1	147	174	4	4	-1	12.813537	147	174	0.024221	1	0	0	0	0	1	0	0	0	--	--		0	C			KIAA0802_uc002knq.2_Missense_Mutation_p.E269D|KIAA0802_uc010dkw.1_Missense_Mutation_p.E107D	156	GBM-16-0861-TP	p.E269D	G	ACTCCCTGGAGTCCTCCACTG	NM_015210	NP_056025	8783917	Q9Y4B5	CC165_HUMAN	0			6	949	+	C	C			Missense_Mutation	620			Potential.			
SOGA2	0	broad.mit.edu	GRCh37	18	8786006	8786020	+	inframe_deletion	In_Frame_Del	DEL	CGAGCCGCGCGGGAG	CGAGCCGCGCGGGAG	-			TCGA-26-5136-01	TCGA-26-5136-01	CGAGCCGCGCGGGAG	CGAGCCGCGCGGGAG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306329.11:c.2885_2899delGAGCCGCGCGGGAGC	p.Arg962_Glu966del	p.R962_E966del	ENST00000306329		962	CGAGCCGCGCGGGAG/-	0	-:0.0024	-:0	1	-:0		-	RAARE/-	uc002knr.2	protein_coding					2884-2898/5718										0	c.(1804-1818)CGAGCCGCGCGGGAGdel			Low_complexity_(Seg):seg,hmmpanther:PTHR15742,hmmpanther:PTHR15742:SF3	hypothetical protein LOC23255		-:0	-:0.0077	ENSP00000305027	-:0.005	14-Jun									rs569097168	14-Jun	.		ENST00000306329	Transcript		-:0.0012				ENSG00000168502	g.chr18:8786006_8786020delCGAGCCGCGCGGGAG	29121	1		MODERATE								--	--	1																																		KIAA0802_uc002knq.2_In_Frame_Del_p.RAARE602del|KIAA0802_uc010dkw.1_In_Frame_Del_p.RAARE440del					p.RAARE602del	NM_015210	NP_056025	-:0.001			SOGA2_HUMAN	SOGA2	HGNC	Q9Y4B5	CC165_HUMAN			J3QLE1_HUMAN		7	1946_1960	+			UPI0001AE65C5	953_957					deletion	SOGA2,inframe_deletion,p.Arg602_Glu606del,ENST00000359865,NM_015210.3;SOGA2,inframe_deletion,p.Arg602_Glu606del,ENST00000517570,;SOGA2,inframe_deletion,p.Arg602_Glu606del,ENST00000400050,;SOGA2,inframe_deletion,p.Arg962_Glu966del,ENST00000306329,;SOGA2,5_prime_UTR_variant,,ENST00000306285,;SOGA2,upstream_gene_variant,,ENST00000518815,;SOGA2,non_coding_transcript_exon_variant,,ENST00000521018,;SOGA2,downstream_gene_variant,,ENST00000523811,;SOGA2,inframe_deletion,p.Ser457_Ala461del,ENST00000520495,;SOGA2,non_coding_transcript_exon_variant,,ENST00000517554,;	uc002knr.2	c.1804_1818delCGAGCCGCGCGGGAG	2884-2898/5718	5	5			c.1804_1818delCGAGCCGCGCGGGAG						18	DEL	c.(1804-1818)CGAGCCGCGCGGGAGdel	18	18				0	Broad	hypothetical protein LOC23255			8786020		0.707	ENSG00000168502	8055	g.chr18:8786006_8786020delCGAGCCGCGCGGGAG						468			468														0.28	1	1	0	1	0	0	0	0	0	--	--		0	-			KIAA0802_uc002knq.2_In_Frame_Del_p.RAARE602del|KIAA0802_uc010dkw.1_In_Frame_Del_p.RAARE440del	185	GBM-26-5136-TP	p.RAARE602del	CGAGCCGCGCGGGAG	CCTGCGCCTCCGAGCCGCGCGGGAGCTGCACCGCC	NM_015210	NP_056025	8786006	Q9Y4B5	CC165_HUMAN	0			7	1946_1960	+	-	-			In_Frame_Del	953_957						
SOGA2	0	broad.mit.edu	GRCh37	18	8807023	8807023	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1986-01	TCGA-32-1986-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306329.11:c.3526G>A	p.Val1176Met	p.V1176M	ENST00000306329		1176	Gtg/Atg	0			1			A	V/M	uc002knr.2	protein_coding					3526/5718										0	c.(2569-2571)GTG>ATG			hmmpanther:PTHR15742,hmmpanther:PTHR15742:SF3	hypothetical protein LOC23255				ENSP00000305027		14-Sep	8.24E-06					1.56E-05			COSM3403695,COSM3403696	14-Sep	.		ENST00000306329	Transcript						ENSG00000168502	g.chr18:8807023G>A	29121			MODERATE		1.31	low	getma.org/?cm=msa&ty=f&p=CC165_HUMAN&rb=1001&re=1200&var=V1176M	NA	getma.org/?cm=var&var=hg19,18,8807023,G,A&fts=all	V1176M	--	--	1																																		KIAA0802_uc002knq.2_Missense_Mutation_p.V816M|KIAA0802_uc002kns.2_Missense_Mutation_p.V187M	1,1			benign(0.17)	p.V857M	NM_015210	NP_056025		tolerated(0.34)	1,1	SOGA2_HUMAN	SOGA2	HGNC	Q9Y4B5	CC165_HUMAN			J3QLE1_HUMAN		11	2711	+			UPI0001AE65C5	1167			Potential.		SNV	SOGA2,missense_variant,p.Val857Met,ENST00000359865,NM_015210.3;SOGA2,missense_variant,p.Val172Met,ENST00000306285,;SOGA2,missense_variant,p.Val816Met,ENST00000517570,;SOGA2,missense_variant,p.Val816Met,ENST00000400050,;SOGA2,missense_variant,p.Val1176Met,ENST00000306329,;SOGA2,missense_variant,p.Val172Met,ENST00000518815,;RP11-674N23.4,downstream_gene_variant,,ENST00000609424,;SOGA2,non_coding_transcript_exon_variant,,ENST00000522592,;SOGA2,upstream_gene_variant,,ENST00000519823,;SOGA2,upstream_gene_variant,,ENST00000518226,;SOGA2,3_prime_UTR_variant,,ENST00000520495,;	uc002knr.2	c.2569G>A	3526/5718	2	2			c.2569G>A						18	SNP	c.(2569-2571)GTG>ATG	46	46				0	Broad	hypothetical protein LOC23255			8807023		0.637	ENSG00000168502	8055	g.chr18:8807023G>A						468			468	7.950919	KEEP	1	5	-1	11	20	1	5	-1	12.487522	11	20	0.138889	1	0	0	0	0	1	0	0	0	--	--		0	A			KIAA0802_uc002knq.2_Missense_Mutation_p.V816M|KIAA0802_uc002kns.2_Missense_Mutation_p.V187M	233	GBM-32-1986-TP	p.V857M	G	GGCCTGGGACGTGGAGTGGGC	NM_015210	NP_056025	8807023	Q9Y4B5	CC165_HUMAN	0			11	2711	+	A	A			Missense_Mutation	1167			Potential.			
SOHLH1	402381	broad.mit.edu	GRCh37	9	138586907	138586907	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0152-01	TCGA-06-0152-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000425225.1:c.864G>A	p.Ala288=	p.A288=	ENST00000425225	NM_001101677.1	288	gcG/gcA	0			1			T	A	uc004cgl.2	protein_coding		CCDS35174.1			864/987									breast(1)|central_nervous_system(1)	2	c.(862-864)GCG>GCA				spermatogenesis and oogenesis specific basic				ENSP00000298466		7-Jun									COSM608114,COSM1145269	7-Jun	.		ENST00000298466	Transcript	1		cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	ENSG00000165643	g.chr9:138586907C>T	27845			LOW								--	--	1																																		SOHLH1_uc010nbe.2_Silent_p.A288A	1,1				p.A288A	NM_001012415	NP_001012415			1,1	SOLH1_HUMAN	SOHLH1	HGNC	Q5JUK2	SOLH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)			6	925	-		Myeloproliferative disorder(178;0.0511)	UPI00001C1EC4	288					SNV	SOHLH1,synonymous_variant,p.=,ENST00000298466,NM_001012415.2;SOHLH1,synonymous_variant,p.=,ENST00000425225,NM_001101677.1;	uc004cgl.2	c.864G>A	925/1987	2	2			c.864G>A						9	SNP	c.(862-864)GCG>GCA	34	34			breast(1)|central_nervous_system(1)	2	Broad	spermatogenesis and oogenesis specific basic			138586907		0.697	ENSG00000165643	14694	g.chr9:138586907C>T	cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding							15.44337	KEEP	3	3	-1	4	10	3	3	-1	15.886496	4	10	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	T			SOHLH1_uc010nbe.2_Silent_p.A288A	25	GBM-06-0152-TP	p.A288A	C	CGGCCTCCTGCGCCAGCATGG	NM_001012415	NP_001012415	138586907	Q5JUK2	SOLH1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)	6	925	-	T	T		Myeloproliferative disorder(178;0.0511)	Silent	288						
SOHLH1	402381	broad.mit.edu	GRCh37	9	138588634	138588634	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0171-01	TCGA-06-0171-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000425225.1:c.485C>T	p.Ala162Val	p.A162V	ENST00000425225	NM_001101677.1	162	gCg/gTg	0			1			A	A/V	uc004cgl.2	protein_coding		CCDS35174.1			485/987									breast(1)|central_nervous_system(1)	2	c.(484-486)GCG>GTG			hmmpanther:PTHR16223,hmmpanther:PTHR16223:SF14	spermatogenesis and oogenesis specific basic				ENSP00000298466		7-May	8.25E-06							6.07E-05	rs774707931,COSM2150297,COSM2150296	7-May	.		ENST00000298466	Transcript	1		cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	ENSG00000165643	g.chr9:138588634G>A	27845			MODERATE		-0.205	neutral	getma.org/?cm=msa&ty=f&p=SOLH1_HUMAN&rb=104&re=303&var=A162V	NA	getma.org/?cm=var&var=hg19,9,138588634,G,A&fts=all	A162V	--	--	1																																		SOHLH1_uc010nbe.2_Missense_Mutation_p.A162V	0,1,1			benign(0)	p.A162V	NM_001012415	NP_001012415		tolerated_low_confidence(0.59)	0,1,1	SOLH1_HUMAN	SOHLH1	HGNC	Q5JUK2	SOLH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)			5	546	-		Myeloproliferative disorder(178;0.0511)	UPI00001C1EC4	162					SNV	SOHLH1,missense_variant,p.Ala162Val,ENST00000298466,NM_001012415.2;SOHLH1,missense_variant,p.Ala162Val,ENST00000425225,NM_001101677.1;	uc004cgl.2	c.485C>T	546/1987	2	2			c.485C>T						9	SNP	c.(484-486)GCG>GTG	48	48			breast(1)|central_nervous_system(1)	2	Broad	spermatogenesis and oogenesis specific basic			138588634		0.637	ENSG00000165643	14694	g.chr9:138588634G>A	cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding							42.210043	KEEP	10	18	-1	42	30	10	18	-1	47.205819	42	30	0.233766	1	0	0	0	0	1	0	0	0	--	--		0	A			SOHLH1_uc010nbe.2_Missense_Mutation_p.A162V	35	GBM-06-0171-TP	p.A162V	G	TTCCAGAAACGCCTTCACATC	NM_001012415	NP_001012415	138588634	Q5JUK2	SOLH1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)	5	546	-	A	A		Myeloproliferative disorder(178;0.0511)	Missense_Mutation	162						
SOHLH1	0	broad.mit.edu	GRCh37	9	138586241	138586241	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-2573-01	TCGA-41-2573-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298466.5:c.938C>T	p.Ser313Leu	p.S313L	ENST00000298466	NM_001012415.2	313	tCg/tTg	0			1			A	S/L	uc004cgl.2	protein_coding		CCDS35174.1			938/987									breast(1)|central_nervous_system(1)	2	c.(937-939)TCG>TTG			Low_complexity_(Seg):seg	spermatogenesis and oogenesis specific basic				ENSP00000298466		7-Jul	3.30E-05					6.10E-05			rs538962017,COSM3413451,COSM3413450	7-Jul	.		ENST00000298466	Transcript	1		cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	ENSG00000165643	g.chr9:138586241G>A	27845			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=SOLH1_HUMAN&rb=274&re=328&var=S313L	NA	getma.org/?cm=var&var=hg19,9,138586241,G,A&fts=all	S313L	--	--	1																																		SOHLH1_uc010nbe.2_Missense_Mutation_p.S313L	0,1,1			unknown(0)	p.S313L	NM_001012415	NP_001012415		tolerated(0.09)	0,1,1	SOLH1_HUMAN	SOHLH1	HGNC	Q5JUK2	SOLH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)			7	999	-		Myeloproliferative disorder(178;0.0511)	UPI00001C1EC4	313					SNV	SOHLH1,missense_variant,p.Ser313Leu,ENST00000298466,NM_001012415.2;SOHLH1,missense_variant,p.Ser313Leu,ENST00000425225,NM_001101677.1;	uc004cgl.2	c.938C>T	999/1987	2	2			c.938C>T						9	SNP	c.(937-939)TCG>TTG	39	39			breast(1)|central_nervous_system(1)	2	Broad	spermatogenesis and oogenesis specific basic			138586241		0.637	ENSG00000165643	14694	g.chr9:138586241G>A	cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding							175.356758	KEEP	27	36	-1	28	21	27	36	-1	175.579893	28	21	0.55	1	0	0	0	0	1	0	0	0	--	--		0	A			SOHLH1_uc010nbe.2_Missense_Mutation_p.S313L	252	GBM-41-2573-TP	p.S313L	G	ACCCGGCCACGAGCTGGGACC	NM_001012415	NP_001012415	138586241	Q5JUK2	SOLH1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)	7	999	-	A	A		Myeloproliferative disorder(178;0.0511)	Missense_Mutation	313						
SOHLH2	0	broad.mit.edu	GRCh37	13	36748890	36748890	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379881.3:c.758G>A	p.Arg253Gln	p.R253Q	ENST00000379881	NM_017826.2	253	cGg/cAg	0			1			T	R/Q	uc001uvj.2	protein_coding		CCDS9355.1			758/1278										0	c.(757-759)CGG>CAG			hmmpanther:PTHR16223,hmmpanther:PTHR16223:SF16,Gene3D:4.10.280.10,SMART_domains:SM00353,Superfamily_domains:SSF47459	spermatogenesis and oogenesis specific basic				ENSP00000369210		11-Jul									COSM1266415	11-Jul	.		ENST00000379881	Transcript			cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding	ENSG00000120669	g.chr13:36748890C>T	26026			MODERATE		-0.305	neutral	getma.org/?cm=msa&ty=f&p=SOLH2_HUMAN&rb=204&re=253&var=R253Q	getma.org/pdb.php?prot=SOLH2_HUMAN&from=204&to=253&var=R253Q	getma.org/?cm=var&var=hg19,13,36748890,C,T&fts=all	R253Q	--	--	1																																		SOHLH2_uc010tei.1_Missense_Mutation_p.R330Q	1			probably_damaging(0.984)	p.R253Q	NM_017826	NP_060296		tolerated(0.17)	1	SOLH2_HUMAN	SOHLH2	HGNC	Q9NX45	SOLH2_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)			7	847	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	UPI000006D052	253			Helix-loop-helix motif.		SNV	SOHLH2,missense_variant,p.Arg253Gln,ENST00000379881,NM_017826.2;SOHLH2,missense_variant,p.Arg330Gln,ENST00000554962,;CCDC169-SOHLH2,missense_variant,p.Arg330Gln,ENST00000511166,NM_001198910.1;	uc001uvj.2	c.758G>A	847/2193	2	2			c.758G>A						13	SNP	c.(757-759)CGG>CAG	29	29				0	Broad	spermatogenesis and oogenesis specific basic			36748890		0.403	ENSG00000120669	14695	g.chr13:36748890C>T	cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding							149.056227	KEEP	29	26	-1	46	43	29	26	-1	150.89648	46	43	0.376812	1	0	0	0	0	1	0	0	0	--	--		0	T			SOHLH2_uc010tei.1_Missense_Mutation_p.R330Q	249	GBM-32-5222-TP	p.R253Q	C	GATTTTCTCCCGGATATATTT	NM_017826	NP_060296	36748890	Q9NX45	SOLH2_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)	7	847	-	T	T		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	Missense_Mutation	253			Helix-loop-helix motif.			
SON	0	broad.mit.edu	GRCh37	21	34923991	34923991	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-5204-01	TCGA-28-5204-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356577.4:c.2454C>T	p.Thr818=	p.T818=	ENST00000356577	NM_138927.2	818	acC/acT	0			1			T	T	uc002yse.1	protein_coding	YES	CCDS13629.1			2454/7281									ovary(4)|skin(2)	6	c.(2452-2454)ACC>ACT			hmmpanther:PTHR12813:SF26,hmmpanther:PTHR12813,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	SON DNA-binding protein isoform F				ENSP00000348984		12-Mar									COSM3405367,COSM3405369,COSM3405368	12-Mar	.		ENST00000356577	Transcript			anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	ENSG00000159140	g.chr21:34923991C>T	11183			LOW								--	--	1																																		SON_uc002ysb.1_Silent_p.T818T|SON_uc002ysc.2_Silent_p.T818T|SON_uc002ysd.2_Intron|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	1,1,1	1			p.T818T	NM_138927	NP_620305			1,1,1	SON_HUMAN	SON	HGNC	P18583	SON_HUMAN					3	2503	+			UPI0000140BFD	818			17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.		SNV	SON,synonymous_variant,p.=,ENST00000356577,NM_138927.2;SON,synonymous_variant,p.=,ENST00000290239,;SON,synonymous_variant,p.=,ENST00000381679,;SON,synonymous_variant,p.=,ENST00000300278,NM_032195.2;SON,intron_variant,,ENST00000381692,;SON,upstream_gene_variant,,ENST00000436227,;SON,upstream_gene_variant,,ENST00000421541,;SON,downstream_gene_variant,,ENST00000492229,;SON,synonymous_variant,p.=,ENST00000455528,;SON,downstream_gene_variant,,ENST00000475072,;	uc002yse.1	c.2454C>T	2929/8813	2	2			c.2454C>T						21	SNP	c.(2452-2454)ACC>ACT	45	45			ovary(4)|skin(2)	6	Broad	SON DNA-binding protein isoform F			34923991		0.507	ENSG00000159140	14697	g.chr21:34923991C>T	anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding							-124.217605	KEEP	1	6	-1	286	323	1	6	-1	7.104514	286	323	0.012422	1	0	0	0	0	0	0	1	0	--	--		0	T			SON_uc002ysb.1_Silent_p.T818T|SON_uc002ysc.2_Silent_p.T818T|SON_uc002ysd.2_Intron|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	215	GBM-28-5204-TP	p.T818T	C	TGTTAGCAACCAGCTCCATGG	NM_138927	NP_620305	34923991	P18583	SON_HUMAN	0			3	2503	+	T	T			Silent	818			17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.			
SON	0	broad.mit.edu	GRCh37	21	34925244	34925244	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-4213-01	TCGA-32-4213-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356577.4:c.3707A>G	p.Asp1236Gly	p.D1236G	ENST00000356577	NM_138927.2	1236	gAt/gGt	0			1			G	D/G	uc002yse.1	protein_coding	YES	CCDS13629.1			3707/7281									ovary(4)|skin(2)	6	c.(3706-3708)GAT>GGT			hmmpanther:PTHR12813:SF26,hmmpanther:PTHR12813	SON DNA-binding protein isoform F				ENSP00000348984		12-Mar									COSM3405370,COSM3405372,COSM3405371	12-Mar	.		ENST00000356577	Transcript			anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	ENSG00000159140	g.chr21:34925244A>G	11183			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=SON_HUMAN&rb=673&re=1829&var=D1236G	NA	getma.org/?cm=var&var=hg19,21,34925244,A,G&fts=all	D1236G	--	--	1																																		SON_uc002ysb.1_Missense_Mutation_p.D1236G|SON_uc002ysc.2_Missense_Mutation_p.D1236G|SON_uc002ysd.2_Missense_Mutation_p.D227G|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.D227G	1,1,1	1		benign(0.176)	p.D1236G	NM_138927	NP_620305			1,1,1	SON_HUMAN	SON	HGNC	P18583	SON_HUMAN					3	3756	+			UPI0000140BFD	1236					SNV	SON,missense_variant,p.Asp1236Gly,ENST00000356577,NM_138927.2;SON,missense_variant,p.Asp1236Gly,ENST00000290239,;SON,missense_variant,p.Asp1236Gly,ENST00000381679,;SON,missense_variant,p.Asp1236Gly,ENST00000300278,NM_032195.2;SON,missense_variant,p.Asp231Gly,ENST00000436227,;SON,intron_variant,,ENST00000381692,;SON,upstream_gene_variant,,ENST00000421541,;SON,missense_variant,p.Asp1236Gly,ENST00000455528,;	uc002yse.1	c.3707A>G	4182/8813	3	3			c.3707A>G						21	SNP	c.(3706-3708)GAT>GGT	4	4			ovary(4)|skin(2)	6	Broad	SON DNA-binding protein isoform F			34925244		0.478	ENSG00000159140	14697	g.chr21:34925244A>G	anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding							336.484673	KEEP	66	89	-1	156	178	66	89	-1	348.472639	156	178	0.305085	1	0	0	0	0	1	0	0	0	--	--		0	G			SON_uc002ysb.1_Missense_Mutation_p.D1236G|SON_uc002ysc.2_Missense_Mutation_p.D1236G|SON_uc002ysd.2_Missense_Mutation_p.D227G|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.D227G	247	GBM-32-4213-TP	p.D1236G	A	TCAGCATCAGATCCCTCAGTT	NM_138927	NP_620305	34925244	P18583	SON_HUMAN	0			3	3756	+	G	G			Missense_Mutation	1236						
SORBS1	10580	broad.mit.edu	GRCh37	10	97096883	97096883	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-6391-01	TCGA-06-6391-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371247.2:c.3034G>C	p.Glu1012Gln	p.E1012Q	ENST00000371247		1012	Gag/Cag	0			1			G	E/Q	uc001kkp.2	protein_coding		CCDS31255.1			3034/3879									breast(1)	1	c.(3034-3036)GAG>CAG			hmmpanther:PTHR10661,hmmpanther:PTHR10661:SF4	sorbin and SH3 domain containing 1 isoform 3				ENSP00000355136		28/31										28/31	.		ENST00000361941	Transcript			focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	ENSG00000095637	g.chr10:97096883C>G	14565			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=SRBS1_HUMAN&rb=996&re=1181&var=E1012Q	NA	getma.org/?cm=var&var=hg19,10,97096883,C,G&fts=all	E1012Q	--	--	1																																		SORBS1_uc001kkk.2_Intron|SORBS1_uc001kkl.2_Intron|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Intron|SORBS1_uc001kkq.2_Intron|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_Intron|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Intron|SORBS1_uc001kkw.2_Missense_Mutation_p.E966Q|SORBS1_uc010qoe.1_Intron				possibly_damaging(0.744)	p.E1012Q	NM_001034954	NP_001030126		deleterious_low_confidence(0)		SRBS1_HUMAN	SORBS1	HGNC	Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)			28	3079	-		Colorectal(252;0.0429)	UPI000013D6B7	1012					SNV	SORBS1,missense_variant,p.Glu1012Gln,ENST00000371247,;SORBS1,missense_variant,p.Glu966Gln,ENST00000371227,;SORBS1,missense_variant,p.Glu1012Gln,ENST00000361941,NM_001034954.1;SORBS1,intron_variant,,ENST00000371246,;SORBS1,intron_variant,,ENST00000393949,;SORBS1,intron_variant,,ENST00000353505,;SORBS1,intron_variant,,ENST00000347291,;SORBS1,intron_variant,,ENST00000371249,NM_015385.2;SORBS1,intron_variant,,ENST00000306402,NM_024991.1;SORBS1,intron_variant,,ENST00000607232,;SORBS1,intron_variant,,ENST00000277982,NM_001034955.1;SORBS1,intron_variant,,ENST00000354106,;SORBS1,intron_variant,,ENST00000371245,NM_001034956.1;SORBS1,intron_variant,,ENST00000371239,;SORBS1,intron_variant,,ENST00000371241,NM_006434.2,NM_001034957.1;SORBS1,downstream_gene_variant,,ENST00000371228,;SORBS1,downstream_gene_variant,,ENST00000474353,;	uc001kkp.2	c.3034G>C	3061/3940	3	3			c.3034G>C						10	SNP	c.(3034-3036)GAG>CAG	53	53			breast(1)	1	Broad	sorbin and SH3 domain containing 1 isoform 3			97096883		0.607	ENSG00000095637	14698	g.chr10:97096883C>G	focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity							28.524334	KEEP	4	6	-1	20	20	4	6	-1	31.911733	20	20	0.217391	1	0	0	0	0	1	0	0	0	--	--		0	G			SORBS1_uc001kkk.2_Intron|SORBS1_uc001kkl.2_Intron|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Intron|SORBS1_uc001kkq.2_Intron|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_Intron|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Intron|SORBS1_uc001kkw.2_Missense_Mutation_p.E966Q|SORBS1_uc010qoe.1_Intron	107	GBM-06-6391-TP	p.E1012Q	C	ATAGAAGCCTCTGGCAGAGGA	NM_001034954	NP_001030126	97096883	Q9BX66	SRBS1_HUMAN	0		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	28	3079	-	G	G		Colorectal(252;0.0429)	Missense_Mutation	1012						
SORBS2	8470	broad.mit.edu	GRCh37	4	186545050	186545050	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0126-01	TCGA-06-0126-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355634.5:c.1821C>T	p.Pro607=	p.P607=	ENST00000355634	NM_001270771.1	607	ccC/ccT	0			1			A	P	uc003iyl.2	protein_coding		CCDS3845.1			1521/3303									ovary(1)	1	c.(1519-1521)CCC>CCT			hmmpanther:PTHR10661,hmmpanther:PTHR10661:SF122	sorbin and SH3 domain containing 2 isoform 2				ENSP00000284776		13/21									COSM2149426,COSM2149427	13/21	.		ENST00000284776	Transcript				actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	ENSG00000154556	g.chr4:186545050G>A	24098			LOW								--	--	1																																		SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Silent_p.P607P|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Silent_p.P411P|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Silent_p.P621P|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	1,1				p.P507P	NM_021069	NP_066547			1,1	SRBS2_HUMAN	SORBS2	HGNC	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	C9JL62_HUMAN,C9JBR8_HUMAN,C9J8E3_HUMAN,C9J7Q5_HUMAN,C9J4K2_HUMAN,C9J3W4_HUMAN,C9IZ89_HUMAN		13	2379	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	UPI0000070F00	507					SNV	SORBS2,synonymous_variant,p.=,ENST00000431808,;SORBS2,synonymous_variant,p.=,ENST00000284776,NM_021069.4;SORBS2,synonymous_variant,p.=,ENST00000418609,NM_001145674.1,NM_001145675.1;SORBS2,synonymous_variant,p.=,ENST00000355634,NM_001270771.1;SORBS2,intron_variant,,ENST00000448662,NM_001145672.1;SORBS2,intron_variant,,ENST00000437304,NM_001145673.1;SORBS2,intron_variant,,ENST00000449407,NM_001145670.1;SORBS2,intron_variant,,ENST00000393528,NM_003603.6;SORBS2,intron_variant,,ENST00000319471,NM_001145671.2;SORBS2,intron_variant,,ENST00000319454,;SORBS2,intron_variant,,ENST00000451974,;SORBS2,intron_variant,,ENST00000438278,;SORBS2,downstream_gene_variant,,ENST00000445625,;SORBS2,intron_variant,,ENST00000498125,;SORBS2,downstream_gene_variant,,ENST00000487836,;SORBS2,downstream_gene_variant,,ENST00000495932,;SORBS2,downstream_gene_variant,,ENST00000487184,;	uc003iyl.2	c.1521C>T	2031/5996	1	1			c.1521C>T						4	SNP	c.(1519-1521)CCC>CCT	49	49			ovary(1)	1	Broad	sorbin and SH3 domain containing 2 isoform 2			186545050		0.572	ENSG00000154556	14699	g.chr4:186545050G>A		actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	Esophageal Squamous(153;41 2433 9491 36028)			Esophageal Squamous(153;41 2433 9491 36028)			185.317542	KEEP	35	29	-1	64	37	35	29	-1	186.445196	64	37	0.407895	1	0	0	0	0	0	0	1	0	--	--		0	A			SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Silent_p.P607P|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Silent_p.P411P|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Silent_p.P621P|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	13	GBM-06-0126-TP	p.P507P	G	AGATGCGTGTGGGCACCATGT	NM_021069	NP_066547	186545050	O94875	SRBS2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	13	2379	-	A	A		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	Silent	507						
SORBS2	0	broad.mit.edu	GRCh37	4	186545046	186545046	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01	TCGA-74-6573-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284776.7:c.1525C>T	p.Arg509Cys	p.R509C	ENST00000284776	NM_021069.4	509	Cgc/Tgc	0			1			A	R/C	uc003iyl.2	protein_coding		CCDS3845.1			1525/3303									ovary(1)	1	c.(1525-1527)CGC>TGC			hmmpanther:PTHR10661,hmmpanther:PTHR10661:SF122	sorbin and SH3 domain containing 2 isoform 2				ENSP00000284776		13/21	1.65E-05					3.00E-05			rs749631099,COSM3409202,COSM3409203	13/21	.		ENST00000284776	Transcript				actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	ENSG00000154556	g.chr4:186545046G>A	24098			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=SRBS2_HUMAN&rb=317&re=516&var=R509C	NA	getma.org/?cm=var&var=hg19,4,186545046,G,A&fts=all	R509C	--	--	1																																		SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.R609C|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.R413C|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.R623C|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	0,1,1			probably_damaging(0.999)	p.R509C	NM_021069	NP_066547		deleterious(0)	0,1,1	SRBS2_HUMAN	SORBS2	HGNC	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	C9JL62_HUMAN,C9JBR8_HUMAN,C9J8E3_HUMAN,C9J7Q5_HUMAN,C9J4K2_HUMAN,C9J3W4_HUMAN,C9IZ89_HUMAN		13	2383	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	UPI0000070F00	509					SNV	SORBS2,missense_variant,p.Arg509Cys,ENST00000431808,;SORBS2,missense_variant,p.Arg509Cys,ENST00000284776,NM_021069.4;SORBS2,missense_variant,p.Arg413Cys,ENST00000418609,NM_001145674.1,NM_001145675.1;SORBS2,missense_variant,p.Arg609Cys,ENST00000355634,NM_001270771.1;SORBS2,intron_variant,,ENST00000448662,NM_001145672.1;SORBS2,intron_variant,,ENST00000437304,NM_001145673.1;SORBS2,intron_variant,,ENST00000449407,NM_001145670.1;SORBS2,intron_variant,,ENST00000393528,NM_003603.6;SORBS2,intron_variant,,ENST00000319471,NM_001145671.2;SORBS2,intron_variant,,ENST00000319454,;SORBS2,intron_variant,,ENST00000451974,;SORBS2,intron_variant,,ENST00000438278,;SORBS2,downstream_gene_variant,,ENST00000445625,;SORBS2,intron_variant,,ENST00000498125,;SORBS2,downstream_gene_variant,,ENST00000487836,;SORBS2,downstream_gene_variant,,ENST00000495932,;SORBS2,downstream_gene_variant,,ENST00000487184,;	uc003iyl.2	c.1525C>T	2035/5996	1	1			c.1525C>T						4	SNP	c.(1525-1527)CGC>TGC	61	61			ovary(1)	1	Broad	sorbin and SH3 domain containing 2 isoform 2			186545046		0.572	ENSG00000154556	14699	g.chr4:186545046G>A		actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	Esophageal Squamous(153;41 2433 9491 36028)			Esophageal Squamous(153;41 2433 9491 36028)			133.233889	KEEP	28	26	-1	29	36	28	26	-1	133.535678	29	36	0.442308	1	0	0	0	0	1	0	0	0	--	--		0	A			SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.R609C|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.R413C|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.R623C|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	260	GBM-74-6573-TP	p.R509C	G	TCGGAGATGCGTGTGGGCACC	NM_021069	NP_066547	186545046	O94875	SRBS2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	13	2383	-	A	A		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	Missense_Mutation	509						
SORCS1	114815	broad.mit.edu	GRCh37	10	108923743	108923743	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0743-01	TCGA-06-0743-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344440.6:c.542C>G	p.Ser181Cys	p.S181C	ENST00000344440	NM_001206571.1	181	tCt/tGt	0			1			C	S/C	uc001kym.2	protein_coding		CCDS7559.1			542/3507									breast(1)|central_nervous_system(1)	2	c.(541-543)TCT>TGT			hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF8,Superfamily_domains:SSF110296	SORCS receptor 1 isoform a				ENSP00000263054		26-Jan									COSM3396910,COSM3396909	26-Jan	.		ENST00000263054	Transcript				integral to membrane	neuropeptide receptor activity|protein binding	ENSG00000108018	g.chr10:108923743G>C	16697			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=SORC1_HUMAN&rb=1&re=200&var=S181C	NA	getma.org/?cm=var&var=hg19,10,108923743,G,C&fts=all	S181C	--	--	1																																		SORCS1_uc001kyl.2_Missense_Mutation_p.S181C|SORCS1_uc009xxs.2_Missense_Mutation_p.S181C|SORCS1_uc001kyn.1_Missense_Mutation_p.S181C|SORCS1_uc001kyo.2_Missense_Mutation_p.S181C	1,1			benign(0.439)	p.S181C	NM_052918	NP_443150		deleterious(0)	1,1	SORC1_HUMAN	SORCS1	HGNC	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)			1	550	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	UPI00001AE866	181			Lumenal (Potential).		SNV	SORCS1,missense_variant,p.Ser181Cys,ENST00000263054,NM_001206570.1,NM_052918.4;SORCS1,missense_variant,p.Ser181Cys,ENST00000344440,NM_001206571.1,NM_001206569.1,NM_001013031.2,NM_001206572.1;	uc001kym.2	c.542C>G	550/7272	4	4			c.542C>G						10	SNP	c.(541-543)TCT>TGT	48	48			breast(1)|central_nervous_system(1)	2	Broad	SORCS receptor 1 isoform a			108923743		0.562	ENSG00000108018	14701	g.chr10:108923743G>C		integral to membrane	neuropeptide receptor activity|protein binding							79.061106	KEEP	13	13	-1	4	4	13	13	-1	80.49752	4	4	0.733333	1	0	0	0	0	1	0	0	0	--	--		0	C			SORCS1_uc001kyl.2_Missense_Mutation_p.S181C|SORCS1_uc009xxs.2_Missense_Mutation_p.S181C|SORCS1_uc001kyn.1_Missense_Mutation_p.S181C|SORCS1_uc001kyo.2_Missense_Mutation_p.S181C	65	GBM-06-0743-TP	p.S181C	G	GTTGTGGCCAGACCAGTGGAC	NM_052918	NP_443150	108923743	Q8WY21	SORC1_HUMAN	0		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	1	550	-	C	C		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	Missense_Mutation	181			Lumenal (Potential).			
SORCS1	0	broad.mit.edu	GRCh37	10	108389034	108389034	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2519-01	TCGA-27-2519-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263054.6:c.2588G>A	p.Gly863Asp	p.G863D	ENST00000263054	NM_001206570.1	863	gGc/gAc	0			1			T	G/D	uc001kym.2	protein_coding		CCDS7559.1			2588/3507									breast(1)|central_nervous_system(1)	2	c.(2587-2589)GGC>GAC			PROSITE_profiles:PS50093,hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF8,Gene3D:2.60.40.670,Pfam_domain:PF00801,Superfamily_domains:SSF49299	SORCS receptor 1 isoform a				ENSP00000263054		19/26									COSM914634,COSM914633	19/26	.		ENST00000263054	Transcript				integral to membrane	neuropeptide receptor activity|protein binding	ENSG00000108018	g.chr10:108389034C>T	16697			MODERATE		2.365	medium	getma.org/?cm=msa&ty=f&p=SORC1_HUMAN&rb=802&re=880&var=G863D	getma.org/pdb.php?prot=SORC1_HUMAN&from=802&to=880&var=G863D	getma.org/?cm=var&var=hg19,10,108389034,C,T&fts=all	G863D	--	--	1																																		SORCS1_uc001kyl.2_Missense_Mutation_p.G863D|SORCS1_uc009xxs.2_Missense_Mutation_p.G863D|SORCS1_uc001kyn.1_Missense_Mutation_p.G863D|SORCS1_uc001kyo.2_Missense_Mutation_p.G863D	1,1			probably_damaging(1)	p.G863D	NM_052918	NP_443150		deleterious(0)	1,1	SORC1_HUMAN	SORCS1	HGNC	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)			19	2596	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	UPI00001AE866	863			Lumenal (Potential).|PKD.		SNV	SORCS1,missense_variant,p.Gly863Asp,ENST00000263054,NM_001206570.1,NM_052918.4;SORCS1,missense_variant,p.Gly863Asp,ENST00000344440,NM_001206571.1,NM_001206569.1,NM_001013031.2,NM_001206572.1;SORCS1,missense_variant,p.Gly398Asp,ENST00000369698,;SORCS1,non_coding_transcript_exon_variant,,ENST00000486192,;	uc001kym.2	c.2588G>A	2596/7272	2	2			c.2588G>A						10	SNP	c.(2587-2589)GGC>GAC	42	42			breast(1)|central_nervous_system(1)	2	Broad	SORCS receptor 1 isoform a			108389034		0.483	ENSG00000108018	14701	g.chr10:108389034C>T		integral to membrane	neuropeptide receptor activity|protein binding							2.20169	KEEP	2	1	-1	10	18	2	1	-1	6.744334	10	18	0.103448	1	0	0	0	0	1	0	0	0	--	--		0	T			SORCS1_uc001kyl.2_Missense_Mutation_p.G863D|SORCS1_uc009xxs.2_Missense_Mutation_p.G863D|SORCS1_uc001kyn.1_Missense_Mutation_p.G863D|SORCS1_uc001kyo.2_Missense_Mutation_p.G863D	199	GBM-27-2519-TP	p.G863D	C	ACGGAAAATGCCCACGTTCTG	NM_052918	NP_443150	108389034	Q8WY21	SORC1_HUMAN	0		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	19	2596	-	T	T		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	Missense_Mutation	863			Lumenal (Potential).|PKD.			
SORCS2	57537	broad.mit.edu	GRCh37	4	7719828	7719828	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01	TCGA-06-0646-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000507866.2:c.2342G>A	p.Arg781Gln	p.R781Q	ENST00000507866	NM_020777.2	781	cGg/cAg	0			1			A	R/Q	uc003gkb.3	protein_coding	YES	CCDS47008.1			2342/3480									ovary(1)|central_nervous_system(1)	2	c.(2341-2343)CGG>CAG			hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF9,Superfamily_domains:SSF49299	VPS10 domain receptor protein SORCS 2 precursor				ENSP00000422185		18/27	4.96E-05			0.00012		6.40E-05		6.51E-05	rs760356538,COSM3409492,COSM3409493	18/27	.		ENST00000507866	Transcript				integral to membrane	neuropeptide receptor activity	ENSG00000184985	g.chr4:7719828G>A	16698			MODERATE		1.655	low	getma.org/?cm=msa&ty=f&p=SORC2_HUMAN&rb=45&re=783&var=R781Q	getma.org/pdb.php?prot=SORC2_HUMAN&from=45&to=783&var=R781Q	getma.org/?cm=var&var=hg19,4,7719828,G,A&fts=all	R781Q	--	--	1																																		SORCS2_uc011bwi.1_Missense_Mutation_p.R609Q	0,1,1	1		benign(0.04)	p.R781Q	NM_020777	NP_065828		tolerated(0.09)	0,1,1	SORC2_HUMAN	SORCS2	HGNC	Q96PQ0	SORC2_HUMAN					18	2342	+			UPI0000EE6E4F	781			Lumenal (Potential).		SNV	SORCS2,missense_variant,p.Arg781Gln,ENST00000507866,NM_020777.2;SORCS2,missense_variant,p.Arg609Gln,ENST00000329016,;	uc003gkb.3	c.2342G>A	2451/6152	1	1			c.2342G>A						4	SNP	c.(2341-2343)CGG>CAG	51	51			ovary(1)|central_nervous_system(1)	2	Broad	VPS10 domain receptor protein SORCS 2 precursor			7719828		0.652	ENSG00000184985	14702	g.chr4:7719828G>A		integral to membrane	neuropeptide receptor activity							28.272616	KEEP	5	6	-1	8	8	5	6	-1	28.365859	8	8	0.428571	1	0	0	0	0	1	0	0	0	--	--		0	A			SORCS2_uc011bwi.1_Missense_Mutation_p.R609Q	60	GBM-06-0646-TP	p.R781Q	G	ACGCCGCCCCGGGGCCTGCAG	NM_020777	NP_065828	7719828	Q96PQ0	SORC2_HUMAN	0			18	2342	+	A	A			Missense_Mutation	781			Lumenal (Potential).			
SORCS2	0	broad.mit.edu	GRCh37	4	7666134	7666134	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01	TCGA-12-3649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000507866.2:c.1007C>T	p.Ala336Val	p.A336V	ENST00000507866	NM_020777.2	336	gCc/gTc	0			1			T	A/V	uc003gkb.3	protein_coding	YES	CCDS47008.1			1007/3480									ovary(1)|central_nervous_system(1)	2	c.(1006-1008)GCC>GTC			hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF9,SMART_domains:SM00602	VPS10 domain receptor protein SORCS 2 precursor				ENSP00000422185		27-Jul									COSM3409485,COSM3409486	27-Jul	.		ENST00000507866	Transcript				integral to membrane	neuropeptide receptor activity	ENSG00000184985	g.chr4:7666134C>T	16698			MODERATE		0.6	neutral	getma.org/?cm=msa&ty=f&p=SORC2_HUMAN&rb=45&re=783&var=A336V	getma.org/pdb.php?prot=SORC2_HUMAN&from=45&to=783&var=A336V	getma.org/?cm=var&var=hg19,4,7666134,C,T&fts=all	A336V	--	--	1																																		SORCS2_uc011bwi.1_Missense_Mutation_p.A164V	1,1	1		benign(0.005)	p.A336V	NM_020777	NP_065828		tolerated(0.5)	1,1	SORC2_HUMAN	SORCS2	HGNC	Q96PQ0	SORC2_HUMAN					7	1007	+			UPI0000EE6E4F	336			Lumenal (Potential).		SNV	SORCS2,missense_variant,p.Ala336Val,ENST00000507866,NM_020777.2;SORCS2,missense_variant,p.Ala164Val,ENST00000329016,;SORCS2,downstream_gene_variant,,ENST00000511199,;	uc003gkb.3	c.1007C>T	1116/6152	1	1			c.1007C>T						4	SNP	c.(1006-1008)GCC>GTC	13	13			ovary(1)|central_nervous_system(1)	2	Broad	VPS10 domain receptor protein SORCS 2 precursor			7666134		0.557	ENSG00000184985	14702	g.chr4:7666134C>T		integral to membrane	neuropeptide receptor activity							0.441804	KEEP	1	2	-1	24	16	1	2	-1	6.753258	24	16	0.083333	1	0	0	0	0	1	0	0	0	--	--		0	T			SORCS2_uc011bwi.1_Missense_Mutation_p.A164V	125	GBM-12-3649-TP	p.A336V	C	ATGCTGACAGCCCCATTCGCA	NM_020777	NP_065828	7666134	Q96PQ0	SORC2_HUMAN	0			7	1007	+	T	T			Missense_Mutation	336			Lumenal (Potential).			
SORCS3	22986	broad.mit.edu	GRCh37	10	106899184	106899184	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0879-01	TCGA-06-0879-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369701.3:c.1242C>T	p.Tyr414=	p.Y414=	ENST00000369701	NM_014978.1	414	taC/taT	0		T:0	1	T:0		T	Y	uc001kyi.1	protein_coding	YES	CCDS7558.1			1242/3669									ovary(6)|skin(3)|central_nervous_system(1)	10	c.(1240-1242)TAC>TAT			hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF10,SMART_domains:SM00602	VPS10 domain receptor protein SORCS 3 precursor		T:0		ENSP00000358715	T:0	27-Aug	2.47E-05					1.50E-05		0.000121	rs531557060,COSM2152326	27-Aug	.		ENST00000369701	Transcript		T:0.0004		integral to membrane	neuropeptide receptor activity	ENSG00000156395	g.chr10:106899184C>T	16699			LOW								--	--	1																																			0,1	1			p.Y414Y	NM_014978	NP_055793	T:0.002		0,1	SORC3_HUMAN	SORCS3	HGNC	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	B7Z891_HUMAN		8	1469	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	UPI0000135CE1	414			Lumenal (Potential).		SNV	SORCS3,synonymous_variant,p.=,ENST00000369701,NM_014978.1;	uc001kyi.1	c.1242C>T	1469/5757	1	1			c.1242C>T						10	SNP	c.(1240-1242)TAC>TAT	11	11			ovary(6)|skin(3)|central_nervous_system(1)	10	Broad	VPS10 domain receptor protein SORCS 3 precursor			106899184		0.488	ENSG00000156395	14703	g.chr10:106899184C>T		integral to membrane	neuropeptide receptor activity	NSCLC(116;1497 1690 7108 13108 14106)			NSCLC(116;1497 1690 7108 13108 14106)			240.188361	KEEP	32	49	-1	31	36	32	49	-1	240.511557	31	36	0.55303	1	0	0	0	0	0	0	1	0	--	--		0	T				75	GBM-06-0879-TP	p.Y414Y	C	CCAGCTACTACGTGTCTTATC	NM_014978	NP_055793	106899184	Q9UPU3	SORC3_HUMAN	0		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	8	1469	+	T	T		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	Silent	414			Lumenal (Potential).			
SORCS3	22986	broad.mit.edu	GRCh37	10	107015536	107015536	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-2557-01	TCGA-06-2557-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369701.3:c.3314T>G	p.Val1105Gly	p.V1105G	ENST00000369701	NM_014978.1	1105	gTg/gGg	0			1			G	V/G	uc001kyi.1	protein_coding	YES	CCDS7558.1			3314/3669									ovary(6)|skin(3)|central_nervous_system(1)	10	c.(3313-3315)GTG>GGG			hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF10	VPS10 domain receptor protein SORCS 3 precursor				ENSP00000358715		24/27									COSM2152564	24/27	.		ENST00000369701	Transcript				integral to membrane	neuropeptide receptor activity	ENSG00000156395	g.chr10:107015536T>G	16699			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=SORC3_HUMAN&rb=1105&re=1222&var=V1105G	NA	getma.org/?cm=var&var=hg19,10,107015536,T,G&fts=all	V1105G	--	--	1																																			1	1		possibly_damaging(0.887)	p.V1105G	NM_014978	NP_055793		deleterious(0)	1	SORC3_HUMAN	SORCS3	HGNC	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	B7Z891_HUMAN		24	3541	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	UPI0000135CE1	1105			Lumenal (Potential).		SNV	SORCS3,missense_variant,p.Val1105Gly,ENST00000369701,NM_014978.1;	uc001kyi.1	c.3314T>G	3541/5757	3	3			c.3314T>G						10	SNP	c.(3313-3315)GTG>GGG	8	8			ovary(6)|skin(3)|central_nervous_system(1)	10	Broad	VPS10 domain receptor protein SORCS 3 precursor			107015536		0.438	ENSG00000156395	14703	g.chr10:107015536T>G		integral to membrane	neuropeptide receptor activity	NSCLC(116;1497 1690 7108 13108 14106)			NSCLC(116;1497 1690 7108 13108 14106)			113.064142	KEEP	25	15	-1	17	16	25	15	-1	113.09456	17	16	0.52381	1	0	0	0	0	1	0	0	0	--	--		0	G				81	GBM-06-2557-TP	p.V1105G	T	CAAGTCATTGTGTATGTCACA	NM_014978	NP_055793	107015536	Q9UPU3	SORC3_HUMAN	0		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	24	3541	+	G	G		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	Missense_Mutation	1105			Lumenal (Potential).			
SORCS3	0	broad.mit.edu	GRCh37	10	106960921	106960921	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01	TCGA-14-1395-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369699.4:c.29G>A	p.Arg10His	p.R10H	ENST00000369699		10	cGt/cAt	0			1			A	R/H	uc001kyi.1	protein_coding					29/594									ovary(6)|skin(3)|central_nervous_system(1)	10	c.(2170-2172)CGT>CAT			hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF10	VPS10 domain receptor protein SORCS 3 precursor				ENSP00000358713		10-Mar	1.65E-05		8.69E-05			1.50E-05			rs770075122,COSM218261	10-Mar	.		ENST00000369699	Transcript				integral to membrane	neuropeptide receptor activity	ENSG00000156395	g.chr10:106960921G>A	16699			MODERATE		3.305	medium	getma.org/?cm=msa&ty=f&p=SORC3_HUMAN&rb=680&re=825&var=R724H	getma.org/pdb.php?prot=SORC3_HUMAN&from=680&to=825&var=R724H	getma.org/?cm=var&var=hg19,10,106960921,G,A&fts=all	R724H	--	--	1																																		SORCS3_uc010qqz.1_RNA	0,1			probably_damaging(0.978)	p.R724H	NM_014978	NP_055793		deleterious(0.01)	0,1		SORCS3	HGNC	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	B7Z891_HUMAN		16	2398	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	UPI000191521C	724			Lumenal (Potential).		SNV	SORCS3,missense_variant,p.Arg724His,ENST00000369701,NM_014978.1;SORCS3,missense_variant,p.Arg10His,ENST00000369699,;SORCS3,intron_variant,,ENST00000393176,;	uc001kyi.1	c.2171G>A	462/1522	1	1			c.2171G>A						10	SNP	c.(2170-2172)CGT>CAT	59	59			ovary(6)|skin(3)|central_nervous_system(1)	10	Broad	VPS10 domain receptor protein SORCS 3 precursor			106960921		0.468	ENSG00000156395	14703	g.chr10:106960921G>A		integral to membrane	neuropeptide receptor activity	NSCLC(116;1497 1690 7108 13108 14106)			NSCLC(116;1497 1690 7108 13108 14106)			126.686369	KEEP	27	15	-1	3	0	27	15	-1	129.822137	3	0	0.948718	1	0	0	0	0	1	0	0	0	--	--		0	A			SORCS3_uc010qqz.1_RNA	144	GBM-14-1395-TP	p.R724H	G	TTCAAGAAACGTAAGCCAGGA	NM_014978	NP_055793	106960921	Q9UPU3	SORC3_HUMAN	0		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	16	2398	+	A	A		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	Missense_Mutation	724			Lumenal (Potential).			
SORL1	0	broad.mit.edu	GRCh37	11	121424742	121424742	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01	TCGA-26-1439-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260197.7:c.2363G>A	p.Arg788Gln	p.R788Q	ENST00000260197	NM_003105.5	788	cGg/cAg	0			1			A	R/Q	uc001pxx.2	protein_coding	YES	CCDS8436.1			2363/6645									ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15	c.(2362-2364)CGG>CAG			Gene3D:2.120.10.30,hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF20,SMART_domains:SM00135,Superfamily_domains:SSF63825	sortilin-related receptor containing LDLR class				ENSP00000260197		17/48									COSM1973148	17/48	.		ENST00000260197	Transcript	1		cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	ENSG00000137642	g.chr11:121424742G>A	11185			MODERATE		0.78	neutral	getma.org/?cm=msa&ty=f&p=SORL_HUMAN&rb=754&re=843&var=R788Q	getma.org/pdb.php?prot=SORL_HUMAN&from=754&to=843&var=R788Q	getma.org/?cm=var&var=hg19,11,121424742,G,A&fts=all	R788Q	--	--	1																																			1	1		benign(0.336)	p.R788Q	NM_003105	NP_003096		tolerated(0.15)	1	SORL_HUMAN	SORL1	HGNC	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	E9PS32_HUMAN,E9PPB3_HUMAN		17	2443	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	UPI000013D0B1	788			Extracellular (Potential).		SNV	SORL1,missense_variant,p.Arg788Gln,ENST00000260197,NM_003105.5;SORL1,upstream_gene_variant,,ENST00000529445,;SORL1,upstream_gene_variant,,ENST00000524873,;	uc001pxx.2	c.2363G>A	2492/10904	2	2			c.2363G>A						11	SNP	c.(2362-2364)CGG>CAG	33	33			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15	Broad	sortilin-related receptor containing LDLR class			121424742		0.562	ENSG00000137642	14705	g.chr11:121424742G>A	cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity		p.R788Q(OC316-Tumor)	937		p.R788Q(OC316-Tumor)	937	263.374184	KEEP	36	61	-1	71	50	36	61	-1	264.282898	71	50	0.425532	1	0	0	0	0	1	0	0	0	--	--		0	A				179	GBM-26-1439-TP	p.R788Q	G	ACCGGGCTACGGGCAGCAGTG	NM_003105	NP_003096	121424742	Q92673	SORL_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	17	2443	+	A	A		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	Missense_Mutation	788			Extracellular (Potential).			
SOS1	0	broad.mit.edu	GRCh37	2	39262448	39262448	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-27-1830-01	TCGA-27-1830-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000402219.2:c.979A>G	p.Ile327Val	p.I327V	ENST00000402219	NM_005633.3	327	Ata/Gta	0			1			C	I/V	uc002rrk.3	protein_coding		CCDS1802.1			979/4002									ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10	c.(979-981)ATA>GTA			Gene3D:1.20.900.10,Pfam_domain:PF00621,PROSITE_profiles:PS50010,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF168,SMART_domains:SM00325,Superfamily_domains:SSF48065	son of sevenless homolog 1				ENSP00000384675		23-Aug	8.24E-06					1.52E-05			rs758546951,COSM3407858	23-Aug	.	Noonan_syndrome	ENST00000402219	Transcript	1		apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	ENSG00000115904	g.chr2:39262448T>C	11187			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=SOS1_HUMAN&rb=208&re=389&var=I327V	getma.org/pdb.php?prot=SOS1_HUMAN&from=208&to=389&var=I327V	getma.org/?cm=var&var=hg19,2,39262448,T,C&fts=all	I327V	--	--	1																																		SOS1_uc010ynr.1_RNA|SOS1_uc002rrj.3_5'UTR|SOS1_uc002rrl.2_Missense_Mutation_p.I59V	0,1			benign(0.007)	p.I327V	NM_005633	NP_005624		tolerated(0.34)	0,1	SOS1_HUMAN	SOS1	HGNC	Q07889	SOS1_HUMAN			Q9UKX9_HUMAN,Q53SF8_HUMAN,C9K0N6_HUMAN		8	1020	-		all_hematologic(82;0.21)	UPI0000135CF0	327			DH.		SNV	SOS1,missense_variant,p.Ile327Val,ENST00000426016,;SOS1,missense_variant,p.Ile327Val,ENST00000402219,NM_005633.3;SOS1,missense_variant,p.Ile327Val,ENST00000395038,;SOS1,missense_variant,p.Ile270Val,ENST00000428721,;SOS1,non_coding_transcript_exon_variant,,ENST00000461545,;	uc002rrk.3	c.979A>G	1020/8314	3	3			c.979A>G						2	SNP	c.(979-981)ATA>GTA	3	3			ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10	Broad	son of sevenless homolog 1			39262448	Noonan_syndrome	0.338	ENSG00000115904	14707	g.chr2:39262448T>C	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			444			444	51.84859	KEEP	9	9	-1	24	25	9	9	-1	55.190771	24	25	0.261538	1	0	0	0	0	1	0	0	0	--	--		0	C			SOS1_uc010ynr.1_RNA|SOS1_uc002rrj.3_5'UTR|SOS1_uc002rrl.2_Missense_Mutation_p.I59V	189	GBM-27-1830-TP	p.I327V	T	CCTTCGCCTATTGACTGGAAA	NM_005633	NP_005624	39262448	Q07889	SOS1_HUMAN	0			8	1020	-	C	C		all_hematologic(82;0.21)	Missense_Mutation	327			DH.			
SOS1	6654		GRCh37	2	39250170	39250170	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000402219.2:c.1399T>G	p.Leu467Val	p.L467V	ENST00000402219	NM_005633.3	467	Tta/Gta	0																																																																																																																																																																																																																																												
SOS1	6654		GRCh37	2	39234297	39234297	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000402219.2:c.2548G>T	p.Ala850Ser	p.A850S	ENST00000402219	NM_005633.3	850	Gct/Tct	0																																																																																																																																																																																																																																												
SOS2	0	broad.mit.edu	GRCh37	14	50626273	50626273	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-32-1979-01	TCGA-32-1979-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216373.5:c.1728A>G	p.Val576=	p.V576=	ENST00000216373	NM_006939.2	576	gtA/gtG	0			1			C	V	uc001wxs.3	protein_coding	YES	CCDS9697.1			1728/3999									ovary(2)	2	c.(1726-1728)GTA>GTG			Superfamily_domains:0041591,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF150	son of sevenless homolog 2				ENSP00000216373		23-Oct									COSM3401333,COSM3401332	23-Oct	.		ENST00000216373	Transcript			apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	ENSG00000100485	g.chr14:50626273T>C	11188			LOW								--	--	1																																		SOS2_uc010tql.1_Silent_p.V543V|SOS2_uc010tqm.1_RNA|SOS2_uc001wxt.2_Silent_p.V264V	1,1	1			p.V576V	NM_006939	NP_008870			1,1	SOS2_HUMAN	SOS2	HGNC	Q07890	SOS2_HUMAN			B4DJ05_HUMAN		10	1826	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		UPI000013C6E8	576					SNV	SOS2,synonymous_variant,p.=,ENST00000216373,NM_006939.2;SOS2,synonymous_variant,p.=,ENST00000543680,;SOS2,non_coding_transcript_exon_variant,,ENST00000555794,;	uc001wxs.3	c.1728A>G	2003/5489	3	3			c.1728A>G						14	SNP	c.(1726-1728)GTA>GTG	1	1			ovary(2)	2	Broad	son of sevenless homolog 2			50626273		0.333	ENSG00000100485	14708	g.chr14:50626273T>C	apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity							157.454017	KEEP	21	34	-1	52	67	21	34	-1	162.589643	52	67	0.307692	1	0	0	0	0	0	0	1	0	--	--		0	C			SOS2_uc010tql.1_Silent_p.V543V|SOS2_uc010tqm.1_RNA|SOS2_uc001wxt.2_Silent_p.V264V	230	GBM-32-1979-TP	p.V576V	T	AGTCTTTTACTACAAAACGAT	NM_006939	NP_008870	50626273	Q07890	SOS2_HUMAN	0			10	1826	-	C	C	all_epithelial(31;0.000822)|Breast(41;0.0065)		Silent	576						
SOWAHB	0	broad.mit.edu	GRCh37	4	77817817	77817817	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01	TCGA-28-5208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334306.2:c.1186G>A	p.Asp396Asn	p.D396N	ENST00000334306	NM_001029870.1	396	Gac/Aac	0			1			T	D/N	uc003hki.2	protein_coding	YES	CCDS34017.1			1186/2382										0	c.(1186-1188)GAC>AAC			hmmpanther:PTHR14491,hmmpanther:PTHR14491:SF3	ankyrin repeat domain 56				ENSP00000334879		1-Jan									COSM3409501	1-Jan	.		ENST00000334306	Transcript						ENSG00000186212	g.chr4:77817817C>T	32958			MODERATE		0.46	neutral	getma.org/?cm=msa&ty=f&p=SWAHB_HUMAN&rb=201&re=400&var=D396N	NA	getma.org/?cm=var&var=hg19,4,77817817,C,T&fts=all	D396N	--	--	1																																			1	1		possibly_damaging(0.539)	p.D396N	NM_001029870	NP_001025041		tolerated(0.07)	1	SWAHB_HUMAN	SOWAHB	HGNC	A6NEL2	ANR56_HUMAN					1	1186	-			UPI000019777A	396					SNV	SOWAHB,missense_variant,p.Asp396Asn,ENST00000334306,NM_001029870.1;	uc003hki.2	c.1186G>A	1186/2921	2	2			c.1186G>A						4	SNP	c.(1186-1188)GAC>AAC	34	34				0	Broad	ankyrin repeat domain 56			77817817		0.572	ENSG00000186212	670	g.chr4:77817817C>T										387.047378	KEEP	63	82	-1	96	106	63	82	-1	389.151886	96	106	0.41411	1	0	0	0	0	1	0	0	0	--	--		0	T				217	GBM-28-5208-TP	p.D396N	C	TCCACAAAGTCATCCAGATCT	NM_001029870	NP_001025041	77817817	A6NEL2	ANR56_HUMAN	0			1	1186	-	T	T			Missense_Mutation	396						
SOX10	6663	broad.mit.edu	GRCh37	22	38369502	38369502	+	stop_lost	Nonstop_Mutation	SNP	T	T	G			TCGA-02-0047-01	TCGA-02-0047-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396884.2:c.1401A>C	p.Ter467TyrextTer86	p.*467Yext*86	ENST00000396884	NM_006941.3	467	taA/taC	0			1			G	*/Y	uc003aun.1	protein_coding		CCDS13964.1			1401/1401										0	c.(1399-1401)TAA>TAC				SRY (sex determining region Y)-box 10				ENSP00000354130		5-May									COSM2148973	5-May	.		ENST00000360880	Transcript	1			cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity	ENSG00000100146	g.chr22:38369502T>G	11190			HIGH								--	--	1																																		POLR2F_uc003aum.2_Intron|SOX10_uc003auo.1_Nonstop_Mutation_p.*467Y	1				p.*467Y	NM_006941	NP_008872			1	SOX10_HUMAN	SOX10	HGNC	P56693	SOX10_HUMAN			A6PVD3_HUMAN		4	1679	-	Melanoma(58;0.045)		UPI00001362AA	467					SNV	SOX10,stop_lost,p.Ter467TyrextTer86,ENST00000396884,NM_006941.3;SOX10,stop_lost,p.Ter467TyrextTer86,ENST00000360880,;SOX10,intron_variant,,ENST00000446929,;POLR2F,intron_variant,,ENST00000407936,;POLR2F,intron_variant,,ENST00000405557,;POLR2F,downstream_gene_variant,,ENST00000442738,NM_021974.3;SOX10,downstream_gene_variant,,ENST00000427770,;POLR2F,downstream_gene_variant,,ENST00000484894,;SOX10,downstream_gene_variant,,ENST00000470555,;POLR2F,intron_variant,,ENST00000443002,;	uc003aun.1	c.1401A>C	1666/2861	5	4			c.1401A>C						22	SNP	c.(1399-1401)TAA>TAC	22	22				0	Broad	SRY (sex determining region Y)-box 10			38369502		0.692	ENSG00000100146	14712	g.chr22:38369502T>G		cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity	Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275)		67	Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275)		67	16.873933	KEEP	5	1	-1	7	6	5	1	-1	16.893685	7	6	0.454545	1	0	0	0	0	0	0	0	0	--	--		0	G			POLR2F_uc003aum.2_Intron|SOX10_uc003auo.1_Nonstop_Mutation_p.*467Y	3	GBM-02-0047-TP	p.*467Y	T	AGGGCCCCCTTTAGGGCCGGG	NM_006941	NP_008872	38369502	P56693	SOX10_HUMAN	0			4	1679	-	G	G	Melanoma(58;0.045)		Nonstop_Mutation	467						
SOX13	9580	broad.mit.edu	GRCh37	1	204085764	204085766	+	inframe_deletion	In_Frame_Del	DEL	AGC	AGC	-			TCGA-06-5411-01	TCGA-06-5411-01	AGC	AGC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367204.1:c.559_561del	p.Gln187del	p.Q187del	ENST00000367204	NM_005686.2	183	aAGCag/aag	0			1			-	KQ/K	uc001ham.2	protein_coding	YES	CCDS44299.1			548-550/1869									breast(1)|central_nervous_system(1)	2	c.(547-552)AAGCAG>AAG			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF109	SRY-box 13				ENSP00000356172		14-May										14-May	.		ENST00000367204	Transcript			anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000143842	g.chr1:204085764_204085766delAGC	11192	11		MODERATE								--	--	1																																		SOX13_uc001hal.2_In_Frame_Del_p.Q187del|SOX13_uc010pqp.1_In_Frame_Del_p.Q187del|SOX13_uc010pqq.1_In_Frame_Del_p.Q54del		1			p.Q187del	NM_005686	NP_005677				SOX13_HUMAN	SOX13	HGNC	Q9UN79	SOX13_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		E9PPW0_HUMAN,E9PKD6_HUMAN,B4E3N9_HUMAN		5	1143_1145	+	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		UPI000034ECAB	187			Gln-rich.		deletion	SOX13,inframe_deletion,p.Gln187del,ENST00000367204,NM_005686.2;SOX13,downstream_gene_variant,,ENST00000528591,;SOX13,downstream_gene_variant,,ENST00000525442,;SOX13,non_coding_transcript_exon_variant,,ENST00000367203,;SOX13,non_coding_transcript_exon_variant,,ENST00000272193,;SOX13,non_coding_transcript_exon_variant,,ENST00000530882,;SOX13,downstream_gene_variant,,ENST00000534185,;SOX13,inframe_deletion,p.Gln48del,ENST00000480326,;	uc001ham.2	c.548_550delAGC	657-659/3579	5	5			c.548_550delAGC						1	DEL	c.(547-552)AAGCAG>AAG	15	15			breast(1)|central_nervous_system(1)	2	Broad	SRY-box 13			204085766		0.576	ENSG00000143842	14715	g.chr1:204085764_204085766delAGC	anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity																				0	1	1	0	1	0	0	0	0	0	--	--		0	-			SOX13_uc001hal.2_In_Frame_Del_p.Q187del|SOX13_uc010pqp.1_In_Frame_Del_p.Q187del|SOX13_uc010pqq.1_In_Frame_Del_p.Q54del	94	GBM-06-5411-TP	p.Q187del	AGC	CTGTTTGAGAAGCAGCAGCAGCA	NM_005686	NP_005677	204085764	Q9UN79	SOX13_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		5	1143_1145	+	-	-	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		In_Frame_Del	187			Gln-rich.			
SOX13	0	broad.mit.edu	GRCh37	1	204086257	204086259	+	inframe_deletion	In_Frame_Del	DEL	AGC	AGC	-			TCGA-32-1991-01	TCGA-32-1991-01	AGC	AGC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367204.1:c.611_613delAGC	p.Gln204del	p.Q204del	ENST00000367204	NM_005686.2	200	aAGCag/aag	0			1			-	KQ/K	uc001ham.2	protein_coding	YES	CCDS44299.1			599-601/1869									breast(1)|central_nervous_system(1)	2	c.(598-603)AAGCAG>AAG			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF109	SRY-box 13				ENSP00000356172		14-Jun										14-Jun	.		ENST00000367204	Transcript			anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000143842	g.chr1:204086257_204086259delAGC	11192	12		MODERATE								--	--	1																																		SOX13_uc001hal.2_In_Frame_Del_p.Q204del|SOX13_uc010pqp.1_In_Frame_Del_p.Q204del|SOX13_uc010pqq.1_In_Frame_Del_p.Q71del		1			p.Q204del	NM_005686	NP_005677				SOX13_HUMAN	SOX13	HGNC	Q9UN79	SOX13_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		E9PPW0_HUMAN,E9PKD6_HUMAN,B4E3N9_HUMAN		6	1194_1196	+	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		UPI000034ECAB	204			Gln-rich.		deletion	SOX13,inframe_deletion,p.Gln204del,ENST00000367204,NM_005686.2;SOX13,downstream_gene_variant,,ENST00000528591,;SOX13,downstream_gene_variant,,ENST00000525442,;SOX13,non_coding_transcript_exon_variant,,ENST00000367203,;SOX13,non_coding_transcript_exon_variant,,ENST00000272193,;SOX13,non_coding_transcript_exon_variant,,ENST00000530882,;SOX13,downstream_gene_variant,,ENST00000534185,;SOX13,inframe_deletion,p.Gln65del,ENST00000480326,;	uc001ham.2	c.599_601delAGC	708-710/3579	5	5			c.599_601delAGC						1	DEL	c.(598-603)AAGCAG>AAG	30	30			breast(1)|central_nervous_system(1)	2	Broad	SRY-box 13			204086259		0.581	ENSG00000143842	14715	g.chr1:204086257_204086259delAGC	anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity																				0	1	1	0	1	0	0	0	0	0	--	--		0	-			SOX13_uc001hal.2_In_Frame_Del_p.Q204del|SOX13_uc010pqp.1_In_Frame_Del_p.Q204del|SOX13_uc010pqq.1_In_Frame_Del_p.Q71del	234	GBM-32-1991-TP	p.Q204del	AGC	CAGATTGCAAAGCAGCAGCAGCA	NM_005686	NP_005677	204086257	Q9UN79	SOX13_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		6	1194_1196	+	-	-	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		In_Frame_Del	204			Gln-rich.			
SOX13	9580		GRCh37	1	204092264	204092265	+	missense_variant	Missense_Mutation	DNP	CC	CC	AA			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000367204.1:c.1159_1160delinsAA	p.Pro387Lys	p.P387K	ENST00000367204	NM_005686.2	387	CCa/AAa	0																																																																																																																																																																																																																																												
SOX14	8403	broad.mit.edu	GRCh37	3	137484152	137484152	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306087.1:c.526G>A	p.Ala176Thr	p.A176T	ENST00000306087	NM_004189.3	176	Gcc/Acc	0			1			A	A/T	uc003erm.1	protein_coding	YES	CCDS3094.1			526/723										0	c.(526-528)GCC>ACC			hmmpanther:PTHR10270:SF107,hmmpanther:PTHR10270	SRY-box 14				ENSP00000305343		1-Jan									COSM3408273	1-Jan	.		ENST00000306087	Transcript			negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	ENSG00000168875	g.chr3:137484152G>A	11193			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=SOX14_HUMAN&rb=125&re=207&var=A176T	NA	getma.org/?cm=var&var=hg19,3,137484152,G,A&fts=all	A176T	--	--	1																																			1	1		benign(0.034)	p.A176T	NM_004189	NP_004180		tolerated(0.12)	1	SOX14_HUMAN	SOX14	HGNC	O95416	SOX14_HUMAN					1	574	+			UPI0000000B2D	176					SNV	SOX14,missense_variant,p.Ala176Thr,ENST00000306087,NM_004189.3;	uc003erm.1	c.526G>A	574/818	1	1			c.526G>A						3	SNP	c.(526-528)GCC>ACC	57	57				0	Broad	SRY-box 14			137484152		0.667	ENSG00000168875	14716	g.chr3:137484152G>A	negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding							7.120204	KEEP	1	2	-1	2	9	1	2	-1	7.478223	2	9	0.3	1	0	0	0	0	1	0	0	0	--	--		0	A				8	GBM-02-2486-TP	p.A176T	G	CCAGAACGGCGCCTTCGGCAG	NM_004189	NP_004180	137484152	O95416	SOX14_HUMAN	0			1	574	+	A	A			Missense_Mutation	176						
SOX14	0	broad.mit.edu	GRCh37	3	137484038	137484038	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-27-1837-01	TCGA-27-1837-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306087.1:c.412C>G	p.Leu138Val	p.L138V	ENST00000306087	NM_004189.3	138	Ctg/Gtg	0			1			G	L/V	uc003erm.1	protein_coding	YES	CCDS3094.1			412/723										0	c.(412-414)CTG>GTG			hmmpanther:PTHR10270:SF107,hmmpanther:PTHR10270	SRY-box 14				ENSP00000305343		1-Jan									COSM3408272	1-Jan	.		ENST00000306087	Transcript			negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	ENSG00000168875	g.chr3:137484038C>G	11193			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=SOX14_HUMAN&rb=125&re=207&var=L138V	NA	getma.org/?cm=var&var=hg19,3,137484038,C,G&fts=all	L138V	--	--	1																																			1	1		benign(0.004)	p.L138V	NM_004189	NP_004180		tolerated(0.16)	1	SOX14_HUMAN	SOX14	HGNC	O95416	SOX14_HUMAN					1	460	+			UPI0000000B2D	138					SNV	SOX14,missense_variant,p.Leu138Val,ENST00000306087,NM_004189.3;	uc003erm.1	c.412C>G	460/818	4	4			c.412C>G						3	SNP	c.(412-414)CTG>GTG	32	32				0	Broad	SRY-box 14			137484038		0.721	ENSG00000168875	14716	g.chr3:137484038C>G	negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding							24.363689	KEEP	7	4	-1	7	8	7	4	-1	24.603449	7	8	0.391304	1	0	0	0	0	1	0	0	0	--	--		0	G				196	GBM-27-1837-TP	p.L138V	C	GCCCTACTCCCTGCTGGACCC	NM_004189	NP_004180	137484038	O95416	SOX14_HUMAN	0			1	460	+	G	G			Missense_Mutation	138						
SOX17	0	broad.mit.edu	GRCh37	8	55371633	55371633	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01	TCGA-19-5951-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297316.4:c.323C>T	p.Ala108Val	p.A108V	ENST00000297316	NM_022454.3	108	gCg/gTg	0			1			T	A/V	uc003xsb.3	protein_coding	YES	CCDS6159.1			323/1245									lung(1)	1	c.(322-324)GCG>GTG			PROSITE_profiles:PS50118,hmmpanther:PTHR10270:SF216,hmmpanther:PTHR10270,Gene3D:1.10.30.10,Pfam_domain:PF00505,SMART_domains:SM00398,Superfamily_domains:SSF47095	SRY-box 17				ENSP00000297316		2-Feb									COSM3413063	2-Feb	.		ENST00000297316	Transcript	1		angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	ENSG00000164736	g.chr8:55371633C>T	18122			MODERATE		1.88	low	getma.org/?cm=msa&ty=f&p=SOX17_HUMAN&rb=68&re=136&var=A108V	getma.org/pdb.php?prot=SOX17_HUMAN&from=68&to=136&var=A108V	getma.org/?cm=var&var=hg19,8,55371633,C,T&fts=all	A108V	--	--	1																																			1	1		probably_damaging(0.989)	p.A108V	NM_022454	NP_071899		deleterious(0)	1	SOX17_HUMAN	SOX17	HGNC	Q9H6I2	SOX17_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)		Q2T9L5_HUMAN,Q2NKK5_HUMAN		2	527	+		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	UPI00001362B7	108			HMG box.		SNV	SOX17,missense_variant,p.Ala108Val,ENST00000297316,NM_022454.3;	uc003xsb.3	c.323C>T	527/2342	2	2			c.323C>T						8	SNP	c.(322-324)GCG>GTG	45	45			lung(1)	1	Broad	SRY-box 17			55371633		0.701	ENSG00000164736	14718	g.chr8:55371633C>T	angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding							9.087802	KEEP	2	2	-1	2	7	2	2	-1	9.52097	2	7	0.307692	1	0	0	0	0	1	0	0	0	--	--		0	T				171	GBM-19-5951-TP	p.A108V	C	TCGTGGAAGGCGCTGACGCTG	NM_022454	NP_071899	55371633	Q9H6I2	SOX17_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)		2	527	+	T	T		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	Missense_Mutation	108			HMG box.			
SOX3	0	broad.mit.edu	GRCh37	X	139586804	139586804	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370536.2:c.422G>A	p.Arg141Gln	p.R141Q	ENST00000370536	NM_005634.2	141	cGg/cAg	0			1			T	R/Q	uc004fbd.1	protein_coding	YES	CCDS14669.1			422/1341									pancreas(1)	1	c.(421-423)CGG>CAG			Gene3D:1.10.30.10,Pfam_domain:PF00505,PROSITE_profiles:PS50118,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF111,SMART_domains:SM00398,Superfamily_domains:SSF47095	SRY (sex determining region Y)-box 3				ENSP00000359567		1-Jan									COSM3406023	1-Jan	.		ENST00000370536	Transcript	1		face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding	ENSG00000134595	g.chrX:139586804C>T	11199			MODERATE		3.56	high	getma.org/?cm=msa&ty=f&p=SOX3_HUMAN&rb=139&re=207&var=R141Q	getma.org/pdb.php?prot=SOX3_HUMAN&from=139&to=207&var=R141Q	getma.org/?cm=var&var=hg19,X,139586804,C,T&fts=all	R141Q	--	--	1																																			1	1		probably_damaging(0.986)	p.R141Q	NM_005634	NP_005625		deleterious(0)	1	SOX3_HUMAN	SOX3	HGNC	P41225	SOX3_HUMAN					1	422	-	Acute lymphoblastic leukemia(192;7.65e-05)		UPI000006F00F	141			HMG box.		SNV	SOX3,missense_variant,p.Arg141Gln,ENST00000370536,NM_005634.2;	uc004fbd.1	c.422G>A	422/2074	2	2			c.422G>A						23	SNP	c.(421-423)CGG>CAG	17	17			pancreas(1)	1	Broad	SRY (sex determining region Y)-box 3			139586804		0.652	ENSG00000134595	14722	g.chrX:139586804C>T	face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding							47.995333	KEEP	10	8	-1	23	18	10	8	-1	49.759379	23	18	0.309091	1	0	0	0	0	1	0	0	0	--	--		0	T				159	GBM-19-1390-TP	p.R141Q	C	GTTCATGGGCCGTTTCACACG	NM_005634	NP_005625	139586804	P41225	SOX3_HUMAN	0			1	422	-	T	T	Acute lymphoblastic leukemia(192;7.65e-05)		Missense_Mutation	141			HMG box.			
SOX3	0	broad.mit.edu	GRCh37	X	139586734	139586734	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-26-5139-01	TCGA-26-5139-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370536.2:c.492G>C	p.Met164Ile	p.M164I	ENST00000370536	NM_005634.2	164	atG/atC	0			1			G	M/I	uc004fbd.1	protein_coding	YES	CCDS14669.1			492/1341									pancreas(1)	1	c.(490-492)ATG>ATC			Gene3D:1.10.30.10,Pfam_domain:PF00505,PROSITE_profiles:PS50118,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF111,SMART_domains:SM00398,Superfamily_domains:SSF47095	SRY (sex determining region Y)-box 3				ENSP00000359567		1-Jan									COSM2157167	1-Jan	.		ENST00000370536	Transcript	1		face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding	ENSG00000134595	g.chrX:139586734C>G	11199			MODERATE		1.94	medium	getma.org/?cm=msa&ty=f&p=SOX3_HUMAN&rb=139&re=207&var=M164I	getma.org/pdb.php?prot=SOX3_HUMAN&from=139&to=207&var=M164I	getma.org/?cm=var&var=hg19,X,139586734,C,G&fts=all	M164I	--	--	1																																			1	1		possibly_damaging(0.844)	p.M164I	NM_005634	NP_005625		deleterious(0)	1	SOX3_HUMAN	SOX3	HGNC	P41225	SOX3_HUMAN					1	492	-	Acute lymphoblastic leukemia(192;7.65e-05)		UPI000006F00F	164			HMG box.		SNV	SOX3,missense_variant,p.Met164Ile,ENST00000370536,NM_005634.2;	uc004fbd.1	c.492G>C	492/2074	4	4			c.492G>C						23	SNP	c.(490-492)ATG>ATC	32	32			pancreas(1)	1	Broad	SRY (sex determining region Y)-box 3			139586734		0.622	ENSG00000134595	14722	g.chrX:139586734C>G	face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding							172.729866	KEEP	26	32	-1	67	42	26	32	-1	175.575314	67	42	0.353333	1	0	0	0	0	1	0	0	0	--	--		0	G				186	GBM-26-5139-TP	p.M164I	C	CAGAATTGTGCATCTTGGGGT	NM_005634	NP_005625	139586734	P41225	SOX3_HUMAN	0			1	492	-	G	G	Acute lymphoblastic leukemia(192;7.65e-05)		Missense_Mutation	164			HMG box.			
SOX30	0	broad.mit.edu	GRCh37	5	157078493	157078493	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-1834-01	TCGA-27-1834-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265007.6:c.594C>T	p.Gly198=	p.G198=	ENST00000265007	NM_178424.1	198	ggC/ggT	0			1			A	G	uc003lxb.1	protein_coding	YES	CCDS4339.1			594/2262									ovary(1)|central_nervous_system(1)	2	c.(592-594)GGC>GGT			hmmpanther:PTHR10270:SF10,hmmpanther:PTHR10270	SRY (sex determining region Y)-box 30 isoform a				ENSP00000265007		5-Jan									COSM3410062	5-Jan	.		ENST00000265007	Transcript			regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	ENSG00000039600	g.chr5:157078493G>A	30635			LOW								--	--	1																																		SOX30_uc003lxc.1_Silent_p.G198G|SOX30_uc011dds.1_Intron	1	1			p.G198G	NM_178424	NP_848511			1	SOX30_HUMAN	SOX30	HGNC	O94993	SOX30_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)				1	936	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	UPI00001362BA	198					SNV	SOX30,synonymous_variant,p.=,ENST00000265007,NM_178424.1;SOX30,synonymous_variant,p.=,ENST00000311371,NM_007017.2;SOX30,intron_variant,,ENST00000519442,;	uc003lxb.1	c.594C>T	936/3265	1	1			c.594C>T						5	SNP	c.(592-594)GGC>GGT	63	63			ovary(1)|central_nervous_system(1)	2	Broad	SRY (sex determining region Y)-box 30 isoform a			157078493		0.657	ENSG00000039600	14723	g.chr5:157078493G>A	regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	Esophageal Squamous(31;525 799 19355 21125 41744)			Esophageal Squamous(31;525 799 19355 21125 41744)			201.318368	KEEP	46	48	-1	57	52	46	48	-1	201.343362	57	52	0.513889	1	0	0	0	0	0	0	1	0	--	--		0	A			SOX30_uc003lxc.1_Silent_p.G198G|SOX30_uc011dds.1_Intron	193	GBM-27-1834-TP	p.G198G	G	TGCCTGCCCCGCCTTGCATCG	NM_178424	NP_848511	157078493	O94993	SOX30_HUMAN	0	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	936	-	A	A	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Silent	198						
SOX30	0	broad.mit.edu	GRCh37	5	157065654	157065654	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-2521-01	TCGA-27-2521-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265007.6:c.1464C>T	p.Ser488=	p.S488=	ENST00000265007	NM_178424.1	488	agC/agT	0			1			A	S	uc003lxb.1	protein_coding	YES	CCDS4339.1			1464/2262									ovary(1)|central_nervous_system(1)	2	c.(1462-1464)AGC>AGT			hmmpanther:PTHR10270:SF10,hmmpanther:PTHR10270	SRY (sex determining region Y)-box 30 isoform a				ENSP00000265007		5-Apr	1.65E-05							0.000121	rs753364331,COSM3410060	5-Apr	.		ENST00000265007	Transcript			regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	ENSG00000039600	g.chr5:157065654G>A	30635			LOW								--	--	1																																		SOX30_uc003lxc.1_Intron|SOX30_uc011dds.1_Silent_p.S183S	0,1	1			p.S488S	NM_178424	NP_848511			0,1	SOX30_HUMAN	SOX30	HGNC	O94993	SOX30_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)				4	1806	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	UPI00001362BA	488					SNV	SOX30,synonymous_variant,p.=,ENST00000265007,NM_178424.1;SOX30,synonymous_variant,p.=,ENST00000519442,;SOX30,intron_variant,,ENST00000311371,NM_007017.2;	uc003lxb.1	c.1464C>T	1806/3265	2	2			c.1464C>T						5	SNP	c.(1462-1464)AGC>AGT	18	18			ovary(1)|central_nervous_system(1)	2	Broad	SRY (sex determining region Y)-box 30 isoform a			157065654		0.532	ENSG00000039600	14723	g.chr5:157065654G>A	regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	Esophageal Squamous(31;525 799 19355 21125 41744)			Esophageal Squamous(31;525 799 19355 21125 41744)			159.378722	KEEP	33	20	-1	8	11	33	20	-1	164.049653	8	11	0.78125	1	0	0	0	0	0	0	1	0	--	--		0	A			SOX30_uc003lxc.1_Intron|SOX30_uc011dds.1_Silent_p.S183S	200	GBM-27-2521-TP	p.S488S	G	CACTGGAGACGCTGGGCTGGA	NM_178424	NP_848511	157065654	O94993	SOX30_HUMAN	0	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		4	1806	-	A	A	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Silent	488						
SOX4	6659	broad.mit.edu	GRCh37	6	21595085	21595085	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5417-01	TCGA-06-5417-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000244745.1:c.320C>T	p.Pro107Leu	p.P107L	ENST00000244745	NM_003107.2	107	cCt/cTt	0			1			T	P/L	uc003ndi.2	protein_coding	YES	CCDS4547.1			320/1425										0	c.(319-321)CCT>CTT			Superfamily_domains:SSF47095,SMART_domains:SM00398,PIRSF_domain:PIRSF038098,Pfam_domain:PF00505,Gene3D:1.10.30.10,hmmpanther:PTHR10270:SF27,hmmpanther:PTHR10270,PROSITE_profiles:PS50118	SRY (sex determining region Y)-box 4				ENSP00000244745		1-Jan									COSM2153292	1-Jan	.		ENST00000244745	Transcript			canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity	ENSG00000124766	g.chr6:21595085C>T	11200			MODERATE		3.795	high	getma.org/?cm=msa&ty=f&p=SOX4_HUMAN&rb=59&re=127&var=P107L	getma.org/pdb.php?prot=SOX4_HUMAN&from=59&to=127&var=P107L	getma.org/?cm=var&var=hg19,6,21595085,C,T&fts=all	P107L	--	--	1																																			1	1		probably_damaging(1)	p.P107L	NM_003107	NP_003098		deleterious(0)	1	SOX4_HUMAN	SOX4	HGNC	Q06945	SOX4_HUMAN	all cancers(50;0.0751)|Epithelial(50;0.155)				1	1114	+	Ovarian(93;0.163)		UPI0000047FA0	107			HMG box.		SNV	SOX4,missense_variant,p.Pro107Leu,ENST00000244745,NM_003107.2;SOX4,missense_variant,p.Pro107Leu,ENST00000543472,;	uc003ndi.2	c.320C>T	1114/4876	1	1			c.320C>T						6	SNP	c.(319-321)CCT>CTT	6	6				0	Broad	SRY (sex determining region Y)-box 4			21595085		0.602	ENSG00000124766	14724	g.chr6:21595085C>T	canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity							35.523961	KEEP	5	9	-1	4	5	5	9	-1	35.717673	4	5	0.611111	1	0	0	0	0	1	0	0	0	--	--		0	T				99	GBM-06-5417-TP	p.P107L	C	GACAAGATCCCTTTCATTCGA	NM_003107	NP_003098	21595085	Q06945	SOX4_HUMAN	0	all cancers(50;0.0751)|Epithelial(50;0.155)		1	1114	+	T	T	Ovarian(93;0.163)		Missense_Mutation	107			HMG box.			
SOX5	0	broad.mit.edu	GRCh37	12	24048786	24048786	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-5216-01	TCGA-28-5216-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000451604.2:c.211T>C	p.Ser71Pro	p.S71P	ENST00000451604		71	Tct/Cct	0			1			G	S/P	uc001rfw.2	protein_coding	YES	CCDS8699.1			211/2292									ovary(5)|lung(1)	6	c.(211-213)TCT>CCT				SRY (sex determining region Y)-box 5 isoform a				ENSP00000398273		15-Feb									COSM3398621	15-Feb	.		ENST00000451604	Transcript	1		transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	ENSG00000134532	g.chr12:24048786A>G	11201			MODERATE		2.255	medium	getma.org/?cm=msa&ty=f&p=SOX5_HUMAN&rb=1&re=546&var=S71P	NA	getma.org/?cm=var&var=hg19,12,24048786,A,G&fts=all	S71P	--	--	1																																		SOX5_uc001rfx.2_Missense_Mutation_p.S58P|SOX5_uc001rfy.2_Missense_Mutation_p.S58P|SOX5_uc010siv.1_Missense_Mutation_p.S58P|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Intron|SOX5_uc001rga.2_Intron	1	1		benign(0.328)	p.S71P	NM_006940	NP_008871		tolerated_low_confidence(0.22)	1	SOX5_HUMAN	SOX5	HGNC	P35711	SOX5_HUMAN			T2CYZ2_HUMAN,F5GWL1_HUMAN		2	313	-			UPI000007405E	71					SNV	SOX5,missense_variant,p.Ser58Pro,ENST00000546136,;SOX5,missense_variant,p.Ser58Pro,ENST00000309359,NM_006940.4,NM_152989.3;SOX5,missense_variant,p.Ser71Pro,ENST00000451604,;SOX5,missense_variant,p.Ser58Pro,ENST00000381381,NM_001261414.1;SOX5,missense_variant,p.Ser61Pro,ENST00000545921,NM_001261415.1;SOX5,missense_variant,p.Ser58Pro,ENST00000541536,;SOX5,missense_variant,p.Ser61Pro,ENST00000541847,;SOX5,missense_variant,p.Ser58Pro,ENST00000538083,;SOX5,intron_variant,,ENST00000537393,;SOX5,intron_variant,,ENST00000441133,;SOX5,missense_variant,p.Ser61Pro,ENST00000367206,;	uc001rfw.2	c.211T>C	313/4261	3	3			c.211T>C						12	SNP	c.(211-213)TCT>CCT	4	4			ovary(5)|lung(1)	6	Broad	SRY (sex determining region Y)-box 5 isoform a			24048786		0.483	ENSG00000134532	14725	g.chr12:24048786A>G	transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity							861.776062	KEEP	159	127	-1	131	136	159	127	-1	861.895958	131	136	0.517094	1	0	0	0	0	1	0	0	0	--	--		0	G			SOX5_uc001rfx.2_Missense_Mutation_p.S58P|SOX5_uc001rfy.2_Missense_Mutation_p.S58P|SOX5_uc010siv.1_Missense_Mutation_p.S58P|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Intron|SOX5_uc001rga.2_Intron	223	GBM-28-5216-TP	p.S71P	A	GTCAGCAGAGAAACTGGCTGA	NM_006940	NP_008871	24048786	P35711	SOX5_HUMAN	0			2	313	-	G	G			Missense_Mutation	71						
SOX7	83595	broad.mit.edu	GRCh37	8	10583649	10583649	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5412-01	TCGA-06-5412-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304501.1:c.766C>T	p.Pro256Ser	p.P256S	ENST00000304501	NM_031439.3	256	Ccc/Tcc	0			1			A	P/S	uc003wtf.2	protein_coding	YES	CCDS5977.1			766/1167									breast(1)	1	c.(766-768)CCC>TCC			hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF210,Pfam_domain:PF12067	SRY-box 7				ENSP00000301921		2-Feb									COSM3412667	2-Feb	.		ENST00000304501	Transcript			endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	ENSG00000171056	g.chr8:10583649G>A	18196			MODERATE		0.94	low	getma.org/?cm=msa&ty=f&p=SOX7_HUMAN&rb=172&re=387&var=P256S	NA	getma.org/?cm=var&var=hg19,8,10583649,G,A&fts=all	P256S	--	--	1																																		SOX7_uc011kwz.1_Missense_Mutation_p.P308S	1	1		benign(0.009)	p.P256S	NM_031439	NP_113627		tolerated(0.27)	1	SOX7_HUMAN	SOX7	HGNC	Q9BT81	SOX7_HUMAN		COAD - Colon adenocarcinoma(149;0.0732)			2	845	-			UPI0000135D0A	256					SNV	SOX7,missense_variant,p.Pro256Ser,ENST00000304501,NM_031439.3;SOX7,missense_variant,p.Pro308Ser,ENST00000553390,;SOX7,missense_variant,p.Pro308Ser,ENST00000554914,;CTD-2135J3.3,upstream_gene_variant,,ENST00000506149,;CTD-2135J3.3,upstream_gene_variant,,ENST00000519568,;	uc003wtf.2	c.766C>T	845/3216	2	2			c.766C>T						8	SNP	c.(766-768)CCC>TCC	28	28			breast(1)	1	Broad	SRY-box 7			10583649		0.692	ENSG00000171056	14727	g.chr8:10583649G>A	endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding							8.173583	KEEP	4	7	-1	34	65	4	7	-1	23.650638	34	65	0.102041	1	0	0	0	0	1	0	0	0	--	--		0	A			SOX7_uc011kwz.1_Missense_Mutation_p.P308S	95	GBM-06-5412-TP	p.P256S	G	GAGCCCAGGGGGTGGCTACAG	NM_031439	NP_113627	10583649	Q9BT81	SOX7_HUMAN	0		COAD - Colon adenocarcinoma(149;0.0732)	2	845	-	A	A			Missense_Mutation	256						
SOX7	0	broad.mit.edu	GRCh37	8	10583718	10583718	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6191-01	TCGA-76-6191-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304501.1:c.697C>T	p.Arg233Cys	p.R233C	ENST00000304501	NM_031439.3	233	Cgc/Tgc	0			1			A	R/C	uc003wtf.2	protein_coding	YES	CCDS5977.1			697/1167									breast(1)	1	c.(697-699)CGC>TGC			hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF210,Pfam_domain:PF12067	SRY-box 7				ENSP00000301921		2-Feb										2-Feb	.		ENST00000304501	Transcript			endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	ENSG00000171056	g.chr8:10583718G>A	18196			MODERATE		-1.07	neutral	getma.org/?cm=msa&ty=f&p=SOX7_HUMAN&rb=172&re=387&var=R233C	NA	getma.org/?cm=var&var=hg19,8,10583718,G,A&fts=all	R233C	--	--	1																																		SOX7_uc011kwz.1_Missense_Mutation_p.R285C		1		benign(0.007)	p.R233C	NM_031439	NP_113627		tolerated(0.14)		SOX7_HUMAN	SOX7	HGNC	Q9BT81	SOX7_HUMAN		COAD - Colon adenocarcinoma(149;0.0732)			2	776	-			UPI0000135D0A	233					SNV	SOX7,missense_variant,p.Arg233Cys,ENST00000304501,NM_031439.3;SOX7,missense_variant,p.Arg285Cys,ENST00000554914,;SOX7,missense_variant,p.Arg285Cys,ENST00000553390,;CTD-2135J3.3,upstream_gene_variant,,ENST00000506149,;CTD-2135J3.3,upstream_gene_variant,,ENST00000519568,;	uc003wtf.2	c.697C>T	776/3216	2	2			c.697C>T						8	SNP	c.(697-699)CGC>TGC	44	44			breast(1)	1	Broad	SRY-box 7			10583718		0.692	ENSG00000171056	14727	g.chr8:10583718G>A	endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding							113.563518	KEEP	20	21	-1	15	14	20	21	-1	114.649657	15	14	0.653846	1	0	0	0	0	1	0	0	0	--	--		0	A			SOX7_uc011kwz.1_Missense_Mutation_p.R285C	274	GBM-76-6191-TP	p.R233C	G	TGGGGGATGCGGCGGGGATGG	NM_031439	NP_113627	10583718	Q9BT81	SOX7_HUMAN	0		COAD - Colon adenocarcinoma(149;0.0732)	2	776	-	A	A			Missense_Mutation	233						
SOX9	6662	broad.mit.edu	GRCh37	17	70118954	70118954	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6388-01	TCGA-06-6388-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245479.2:c.526C>T	p.Pro176Ser	p.P176S	ENST00000245479	NM_000346.3	176	Ccg/Tcg	0			1			T	P/S	uc002jiw.2	protein_coding	YES	CCDS11689.1			526/1530										0	c.(526-528)CCG>TCG			Gene3D:1.10.30.10,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF212,Superfamily_domains:SSF47095	transcription factor SOX9				ENSP00000245479		3-Feb									COSM1385628	3-Feb	.		ENST00000245479	Transcript	1		cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	ENSG00000125398	g.chr17:70118954C>T	11204			MODERATE		3.665	high	getma.org/?cm=msa&ty=f&p=SOX9_HUMAN&rb=174&re=373&var=P176S	NA	getma.org/?cm=var&var=hg19,17,70118954,C,T&fts=all	P176S	--	--	1																																		uc002jiv.2_5'Flank	1	1		benign(0.021)	p.P176S	NM_000346	NP_000337		deleterious(0.01)	1	SOX9_HUMAN	SOX9	HGNC	P48436	SOX9_HUMAN	STAD - Stomach adenocarcinoma(260;0.119)				2	898	+		Colorectal(1115;0.245)	UPI00000009D8	176					SNV	SOX9,missense_variant,p.Pro176Ser,ENST00000245479,NM_000346.3;SOX9-AS1,intron_variant,,ENST00000414600,;SOX9-AS1,upstream_gene_variant,,ENST00000440093,;SOX9-AS1,upstream_gene_variant,,ENST00000533179,;SOX9-AS1,upstream_gene_variant,,ENST00000529667,;SOX9-AS1,upstream_gene_variant,,ENST00000533232,;	uc002jiw.2	c.526C>T	898/3935	2	2			c.526C>T						17	SNP	c.(526-528)CCG>TCG	22	22				0	Broad	transcription factor SOX9			70118954		0.652	ENSG00000125398	14729	g.chr17:70118954C>T	cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	Pancreas(42;83 1041 2320 35205 39456)			Pancreas(42;83 1041 2320 35205 39456)			82.426927	KEEP	11	23	-1	38	27	11	23	-1	83.430407	38	27	0.379747	1	0	0	0	0	1	0	0	0	--	--		0	T			uc002jiv.2_5'Flank	104	GBM-06-6388-TP	p.P176S	C	CAAGTACCAGCCGCGGCGGAG	NM_000346	NP_000337	70118954	P48436	SOX9_HUMAN	0	STAD - Stomach adenocarcinoma(260;0.119)		2	898	+	T	T		Colorectal(1115;0.245)	Missense_Mutation	176						
SOX9	0	broad.mit.edu	GRCh37	17	70120351	70120351	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5955-01	TCGA-19-5955-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245479.2:c.1353C>T	p.Tyr451=	p.Y451=	ENST00000245479	NM_000346.3	451	taC/taT	0			1			T	Y	uc002jiw.2	protein_coding	YES	CCDS11689.1			1353/1530										0	c.(1351-1353)TAC>TAT			hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF212	transcription factor SOX9				ENSP00000245479		3-Mar									COSM2156809	3-Mar	.		ENST00000245479	Transcript	1		cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	ENSG00000125398	g.chr17:70120351C>T	11204			LOW								--	--	1																																			1	1			p.Y451Y	NM_000346	NP_000337			1	SOX9_HUMAN	SOX9	HGNC	P48436	SOX9_HUMAN	STAD - Stomach adenocarcinoma(260;0.119)				3	1725	+		Colorectal(1115;0.245)	UPI00000009D8	451					SNV	SOX9,synonymous_variant,p.=,ENST00000245479,NM_000346.3;SOX9-AS1,intron_variant,,ENST00000414600,;SOX9-AS1,upstream_gene_variant,,ENST00000440093,;SOX9-AS1,upstream_gene_variant,,ENST00000533179,;SOX9-AS1,upstream_gene_variant,,ENST00000529667,;SOX9-AS1,upstream_gene_variant,,ENST00000533232,;	uc002jiw.2	c.1353C>T	1725/3935	2	2			c.1353C>T						17	SNP	c.(1351-1353)TAC>TAT	43	43				0	Broad	transcription factor SOX9			70120351		0.637	ENSG00000125398	14729	g.chr17:70120351C>T	cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	Pancreas(42;83 1041 2320 35205 39456)			Pancreas(42;83 1041 2320 35205 39456)			84.003162	KEEP	17	23	-1	55	104	17	23	-1	97.066462	55	104	0.211765	1	0	0	0	0	0	0	1	0	--	--		0	T				175	GBM-19-5955-TP	p.Y451Y	C	CCAGCTCCTACTACAGCCACG	NM_000346	NP_000337	70120351	P48436	SOX9_HUMAN	0	STAD - Stomach adenocarcinoma(260;0.119)		3	1725	+	T	T		Colorectal(1115;0.245)	Silent	451						
SOX9	0	broad.mit.edu	GRCh37	17	70117782	70117782	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-27-1833-01	TCGA-27-1833-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245479.2:c.250T>G	p.Tyr84Asp	p.Y84D	ENST00000245479	NM_000346.3	84	Tac/Gac	0			1			G	Y/D	uc002jiw.2	protein_coding	YES	CCDS11689.1			250/1530										0	c.(250-252)TAC>GAC			Pfam_domain:PF12444,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF212	transcription factor SOX9				ENSP00000245479		3-Jan									COSM3403169	3-Jan	.		ENST00000245479	Transcript	1		cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	ENSG00000125398	g.chr17:70117782T>G	11204			MODERATE		3.305	medium	getma.org/?cm=msa&ty=f&p=SOX9_HUMAN&rb=21&re=95&var=Y84D	NA	getma.org/?cm=var&var=hg19,17,70117782,T,G&fts=all	Y84D	--	--	1																																		uc002jiv.2_5'Flank	1	1		probably_damaging(0.999)	p.Y84D	NM_000346	NP_000337		deleterious(0)	1	SOX9_HUMAN	SOX9	HGNC	P48436	SOX9_HUMAN	STAD - Stomach adenocarcinoma(260;0.119)				1	622	+		Colorectal(1115;0.245)	UPI00000009D8	84					SNV	SOX9,missense_variant,p.Tyr84Asp,ENST00000245479,NM_000346.3;SOX9-AS1,intron_variant,,ENST00000414600,;SOX9-AS1,upstream_gene_variant,,ENST00000440093,;SOX9-AS1,upstream_gene_variant,,ENST00000533179,;SOX9-AS1,upstream_gene_variant,,ENST00000529667,;SOX9-AS1,upstream_gene_variant,,ENST00000533232,;	uc002jiw.2	c.250T>G	622/3935	3	3			c.250T>G						17	SNP	c.(250-252)TAC>GAC	61	61				0	Broad	transcription factor SOX9			70117782		0.637	ENSG00000125398	14729	g.chr17:70117782T>G	cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	Pancreas(42;83 1041 2320 35205 39456)			Pancreas(42;83 1041 2320 35205 39456)			26.671869	KEEP	7	3	-1	6	5	7	3	-1	26.715489	6	5	0.45	1	0	0	0	0	1	0	0	0	--	--		0	G			uc002jiv.2_5'Flank	192	GBM-27-1833-TP	p.Y84D	T	GCTCAAAGGCTACGACTGGAC	NM_000346	NP_000337	70117782	P48436	SOX9_HUMAN	0	STAD - Stomach adenocarcinoma(260;0.119)		1	622	+	G	G		Colorectal(1115;0.245)	Missense_Mutation	84						
SOX9	6662		GRCh37	17	70117873	70117873	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000245479.2:c.341T>C	p.Val114Ala	p.V114A	ENST00000245479	NM_000346.3	114	gTg/gCg	0																																																																																																																																																																																																																																												
SP100	0	broad.mit.edu	GRCh37	2	231328786	231328786	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-28-2509-01	TCGA-28-2509-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264052.5:c.1062delC	p.Asn355IlefsTer6	p.N355Ifs*6	ENST00000264052	NM_003113.3	354	atC/at	0			1			-	I/X	uc002vqt.2	protein_coding		CCDS2477.1			1062/2640									ovary(4)|central_nervous_system(1)	5	c.(1060-1062)ATCfs			hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF45	nuclear antigen Sp100 isoform 2				ENSP00000264052		25-Nov										25-Nov	.		ENST00000264052	Transcript			DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	ENSG00000067066	g.chr2:231328786delC	11206			HIGH								--	--	1																																		SP100_uc002vqs.2_Frame_Shift_Del_p.I354fs|SP100_uc002vqu.1_Frame_Shift_Del_p.I354fs|SP100_uc002vqq.1_Frame_Shift_Del_p.I354fs|SP100_uc002vqr.1_Frame_Shift_Del_p.I329fs|SP100_uc010zmc.1_Frame_Shift_Del_p.I329fs|SP100_uc002vqv.1_Frame_Shift_Del_p.I318fs					p.I354fs	NM_003113	NP_003104				SP100_HUMAN	SP100	HGNC	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	Q53TD0_HUMAN,Q4ZG64_HUMAN		11	1203	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	UPI000004F0A8	354					deletion	SP100,frameshift_variant,p.Asn355IlefsTer6,ENST00000264052,NM_003113.3;SP100,frameshift_variant,p.Asn355IlefsTer6,ENST00000340126,NM_001080391.1;SP100,frameshift_variant,p.Asn355IlefsTer6,ENST00000409112,NM_001206701.1;SP100,frameshift_variant,p.Asn320IlefsTer6,ENST00000409897,NM_001206704.1;SP100,frameshift_variant,p.Asn355IlefsTer6,ENST00000409341,NM_001206702.1;SP100,frameshift_variant,p.Asn330IlefsTer6,ENST00000427101,NM_001206703.1;SP100,frameshift_variant,p.Asn330IlefsTer6,ENST00000409824,;SP100,frameshift_variant,p.Asn355IlefsTer6,ENST00000341950,;SP100,frameshift_variant,p.Asn20IlefsTer6,ENST00000452345,;SP100,intron_variant,,ENST00000413284,;SP100,non_coding_transcript_exon_variant,,ENST00000462751,;SP100,upstream_gene_variant,,ENST00000494508,;SP100,downstream_gene_variant,,ENST00000466710,;SP100,downstream_gene_variant,,ENST00000470940,;	uc002vqt.2	c.1062delC	1417/3882	5	5			c.1062delC						2	DEL	c.(1060-1062)ATCfs	11	11			ovary(4)|central_nervous_system(1)	5	Broad	nuclear antigen Sp100 isoform 2			231328786		0.408	ENSG00000067066	14731	g.chr2:231328786delC	DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding																				0.47	1	1	0	1	0	0	0	0	0	--	--		0	-			SP100_uc002vqs.2_Frame_Shift_Del_p.I354fs|SP100_uc002vqu.1_Frame_Shift_Del_p.I354fs|SP100_uc002vqq.1_Frame_Shift_Del_p.I354fs|SP100_uc002vqr.1_Frame_Shift_Del_p.I329fs|SP100_uc010zmc.1_Frame_Shift_Del_p.I329fs|SP100_uc002vqv.1_Frame_Shift_Del_p.I318fs	211	GBM-28-2509-TP	p.I354fs	C	GTGCAGTGATCAATAATGACA	NM_003113	NP_003104	231328786	P23497	SP100_HUMAN	0		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	11	1203	+	-	-		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	Frame_Shift_Del	354						
SP100	0	broad.mit.edu	GRCh37	2	231406616	231406616	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01	TCGA-32-4213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340126.4:c.2413G>A	p.Gly805Arg	p.G805R	ENST00000340126	NM_001080391.1	805	Ggg/Agg	0			1			A	G/R	uc002vqu.1	protein_coding	YES	CCDS42832.1			2413/2658									ovary(4)|central_nervous_system(1)	5	c.(2413-2415)GGG>AGG			hmmpanther:PTHR13711:SF45,hmmpanther:PTHR13711,Gene3D:1.20.920.10,SMART_domains:SM00297,Superfamily_domains:SSF47370	nuclear antigen Sp100 isoform 1				ENSP00000343023		28/29									COSM3407649	28/29	.		ENST00000340126	Transcript			DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	ENSG00000067066	g.chr2:231406616G>A	11206			MODERATE		0.2	neutral	getma.org/?cm=msa&ty=f&p=H0Y4R8_HUMAN&rb=1&re=200&var=G179R	getma.org/pdb.php?prot=H0Y4R8_HUMAN&from=1&to=200&var=G179R	getma.org/?cm=var&var=hg19,2,231406616,G,A&fts=all	G179R	--	--	1																																		SP100_uc010fxp.1_Missense_Mutation_p.G123R	1	1		benign(0.001)	p.G805R	NM_001080391	NP_001073860		tolerated(0.37)	1	SP100_HUMAN	SP100	HGNC	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	Q4ZG64_HUMAN		28	2554	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	UPI000013DD6A	Error:Variant_position_missing_in_P23497_after_alignment					SNV	SP100,missense_variant,p.Gly805Arg,ENST00000340126,NM_001080391.1;SP100,missense_variant,p.Gly179Arg,ENST00000431952,;AC010149.4,intron_variant,,ENST00000455357,;AC010149.4,intron_variant,,ENST00000414539,;SP100,non_coding_transcript_exon_variant,,ENST00000494901,;SP100,non_coding_transcript_exon_variant,,ENST00000488180,;	uc002vqu.1	c.2413G>A	2444/2926	2	2			c.2413G>A						2	SNP	c.(2413-2415)GGG>AGG	17	17			ovary(4)|central_nervous_system(1)	5	Broad	nuclear antigen Sp100 isoform 1			231406616		0.403	ENSG00000067066	14731	g.chr2:231406616G>A	DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding							82.773447	KEEP	18	14	-1	50	49	18	14	-1	88.120541	50	49	0.27193	1	0	0	0	0	1	0	0	0	--	--		0	A			SP100_uc010fxp.1_Missense_Mutation_p.G123R	247	GBM-32-4213-TP	p.G805R	G	GAACAGAGAGGGGTCTCAGGG	NM_001080391	NP_001073860	231406616	P23497	SP100_HUMAN	0		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	28	2554	+	A	A		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	Missense_Mutation	Error:Variant_position_missing_in_P23497_after_alignment						
SP110	0	broad.mit.edu	GRCh37	2	231042927	231042927	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-12-5295-01	TCGA-12-5295-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358662.4:c.1393C>A	p.Pro465Thr	p.P465T	ENST00000358662	NM_004509.3	465	Ccc/Acc	0			1			T	P/T	uc002vqh.3	protein_coding		CCDS2474.1			1393/2070									ovary(2)|breast(2)	4	c.(1393-1395)CCC>ACC			PROSITE_profiles:PS50864,hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF46,Gene3D:3.10.390.10,Pfam_domain:PF01342,SMART_domains:SM00258,Superfamily_domains:SSF63763	SP110 nuclear body protein isoform a				ENSP00000351488		13/18									COSM3407643,COSM3407644	13/18	.		ENST00000358662	Transcript	1		interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	ENSG00000135899	g.chr2:231042927G>T	5401			MODERATE		2.96	medium	getma.org/?cm=msa&ty=f&p=SP110_HUMAN&rb=454&re=535&var=P465T	getma.org/pdb.php?prot=SP110_HUMAN&from=454&to=535&var=P465T	getma.org/?cm=var&var=hg19,2,231042927,G,T&fts=all	P465T	--	--	1																																		SP110_uc002vqg.3_Missense_Mutation_p.P465T|SP110_uc002vqi.3_Missense_Mutation_p.P465T|SP110_uc010fxk.2_Missense_Mutation_p.P463T|SP110_uc010fxj.2_Missense_Mutation_p.P108T	1,1			benign(0.225)	p.P465T	NM_004509	NP_004500		deleterious(0)	1,1	SP110_HUMAN	SP110	HGNC	Q9HB58	SP110_HUMAN		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)	Q2I9M3_HUMAN,Q2I9M2_HUMAN,Q2I9M1_HUMAN,Q2I9M0_HUMAN,Q2I9L9_HUMAN,E9PHK4_HUMAN,E7EM70_HUMAN,C9JZQ4_HUMAN		13	1633	-		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)	UPI000013D98F	465			SAND.		SNV	SP110,missense_variant,p.Pro465Thr,ENST00000258381,NM_080424.2;SP110,missense_variant,p.Pro465Thr,ENST00000358662,NM_004509.3;SP110,missense_variant,p.Pro465Thr,ENST00000258382,NM_004510.3;SP110,missense_variant,p.Pro471Thr,ENST00000540870,NM_001185015.1;SP110,missense_variant,p.Pro463Thr,ENST00000392048,;SP110,missense_variant,p.Pro167Thr,ENST00000338556,;AC009950.2,downstream_gene_variant,,ENST00000609120,;AC009950.2,downstream_gene_variant,,ENST00000595586,;AC009950.2,downstream_gene_variant,,ENST00000600787,;AC009950.2,downstream_gene_variant,,ENST00000594622,;AC009950.2,downstream_gene_variant,,ENST00000454058,;SP110,non_coding_transcript_exon_variant,,ENST00000489597,;SP110,upstream_gene_variant,,ENST00000477068,;	uc002vqh.3	c.1393C>A	1472/2337	2	2			c.1393C>A						2	SNP	c.(1393-1395)CCC>ACC	24	24			ovary(2)|breast(2)	4	Broad	SP110 nuclear body protein isoform a			231042927		0.413	ENSG00000135899	14732	g.chr2:231042927G>T	interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			445			445	30.573102	KEEP	5	9	0.357142857	25	19	5	9	0.357142857	33.659382	25	19	0.24	1	0	0	0	0	1	0	0	0	--	--		0	T			SP110_uc002vqg.3_Missense_Mutation_p.P465T|SP110_uc002vqi.3_Missense_Mutation_p.P465T|SP110_uc010fxk.2_Missense_Mutation_p.P463T|SP110_uc010fxj.2_Missense_Mutation_p.P108T	129	GBM-12-5295-TP	p.P465T	G	CAGGTCACGGGGAGCTTAGAA	NM_004509	NP_004500	231042927	Q9HB58	SP110_HUMAN	0		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)	13	1633	-	T	T		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)	Missense_Mutation	465			SAND.			
SP110	0	broad.mit.edu	GRCh37	2	231067312	231067312	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs144163010		TCGA-27-2528-01	TCGA-27-2528-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358662.4:c.1031G>A	p.Arg344Gln	p.R344Q	ENST00000358662	NM_004509.3	344	cGa/cAa	0	T:0.0002		1			T	R/Q	uc002vqh.3	protein_coding		CCDS2474.1			1031/2070									ovary(2)|breast(2)	4	c.(1030-1032)CGA>CAA			hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF46	SP110 nuclear body protein isoform a			T:0.0001	ENSP00000351488		18-Sep	9.88E-05	9.61E-05				7.49E-05	0.0011	0.000303	rs144163010,COSM3407645,COSM3407646	18-Sep	.		ENST00000358662	Transcript	1		interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	ENSG00000135899	g.chr2:231067312C>T	5401			MODERATE		-0.695	neutral	getma.org/?cm=msa&ty=f&p=SP110_HUMAN&rb=310&re=453&var=R344Q	NA	getma.org/?cm=var&var=hg19,2,231067312,C,T&fts=all	R344Q	--	--	1																																		SP110_uc002vqg.3_Missense_Mutation_p.R344Q|SP110_uc002vqi.3_Missense_Mutation_p.R344Q|SP110_uc010fxk.2_Missense_Mutation_p.R342Q|SP110_uc010fxj.2_Intron	0,1,1			benign(0.007)	p.R344Q	NM_004509	NP_004500		tolerated(1)	0,1,1	SP110_HUMAN	SP110	HGNC	Q9HB58	SP110_HUMAN		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)	Q2I9M3_HUMAN,Q2I9M2_HUMAN,Q2I9M1_HUMAN,Q2I9M0_HUMAN,Q2I9L9_HUMAN,E9PHK4_HUMAN,E7EM70_HUMAN,C9JZQ4_HUMAN		9	1271	-		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)	UPI000013D98F	344					SNV	SP110,missense_variant,p.Arg344Gln,ENST00000258381,NM_080424.2;SP110,missense_variant,p.Arg344Gln,ENST00000358662,NM_004509.3;SP110,missense_variant,p.Arg344Gln,ENST00000258382,NM_004510.3;SP110,missense_variant,p.Arg350Gln,ENST00000540870,NM_001185015.1;SP110,missense_variant,p.Arg342Gln,ENST00000392048,;SP110,intron_variant,,ENST00000338556,;SP140,upstream_gene_variant,,ENST00000456542,;SP110,downstream_gene_variant,,ENST00000486146,;SP140,upstream_gene_variant,,ENST00000441657,;SP110,non_coding_transcript_exon_variant,,ENST00000490880,;	uc002vqh.3	c.1031G>A	1110/2337	1	1			c.1031G>A						2	SNP	c.(1030-1032)CGA>CAA	16	16			ovary(2)|breast(2)	4	Broad	SP110 nuclear body protein isoform a			231067312		0.478	ENSG00000135899	14732	g.chr2:231067312C>T	interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			445			445	147.108389	KEEP	29	28	-1	52	60	29	28	-1	151.014145	52	60	0.335404	1	0	0	0	0	1	0	0	0	--	--		0	T			SP110_uc002vqg.3_Missense_Mutation_p.R344Q|SP110_uc002vqi.3_Missense_Mutation_p.R344Q|SP110_uc010fxk.2_Missense_Mutation_p.R342Q|SP110_uc010fxj.2_Intron	205	GBM-27-2528-TP	p.R344Q	C	TCTCGACTTTCGGGCACATTC	NM_004509	NP_004500	231067312	Q9HB58	SP110_HUMAN	0		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)	9	1271	-	T	T		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)	Missense_Mutation	344						
SP140	0	broad.mit.edu	GRCh37	2	231109774	231109774	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-14-0789-01	TCGA-14-0789-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392045.3:c.643A>T	p.Ser215Cys	p.S215C	ENST00000392045	NM_007237.4	215	Agc/Tgc	0			1			T	S/C	uc002vql.2	protein_coding	YES	CCDS42831.1			643/2604										0	c.(643-645)AGC>TGC			hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF1	SP140 nuclear body protein isoform 1				ENSP00000375899		27-Jun									COSM3407648	27-Jun	.		ENST00000392045	Transcript			defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000079263	g.chr2:231109774A>T	17133			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=LY10_HUMAN&rb=140&re=339&var=S215C	NA	getma.org/?cm=var&var=hg19,2,231109774,A,T&fts=all	S215C	--	--	1																																		SP140_uc010zma.1_RNA|SP140_uc002vqk.2_Missense_Mutation_p.S215C|SP140_uc002vqn.2_Missense_Mutation_p.S215C|SP140_uc002vqm.2_Missense_Mutation_p.S215C|SP140_uc010fxl.2_Missense_Mutation_p.S215C	1	1		possibly_damaging(0.887)	p.S215C	NM_007237	NP_009168		tolerated(0.13)	1	SP140_HUMAN	SP140	HGNC	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)			6	758	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	UPI0000209746	215					SNV	SP140,missense_variant,p.Ser215Cys,ENST00000392045,NM_007237.4;SP140,missense_variant,p.Ser215Cys,ENST00000420434,NM_001278451.1;SP140,missense_variant,p.Ser195Cys,ENST00000350136,;SP140,missense_variant,p.Ser215Cys,ENST00000343805,NM_001278452.1;SP140,missense_variant,p.Ser215Cys,ENST00000417495,NM_001278453.1;SP140,missense_variant,p.Ser215Cys,ENST00000486687,;	uc002vql.2	c.643A>T	757/3246	1	1			c.643A>T						2	SNP	c.(643-645)AGC>TGC	1	1				0	Broad	SP140 nuclear body protein isoform 1			231109774		0.443	ENSG00000079263	14733	g.chr2:231109774A>T	defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			802			802	53.961088	KEEP	15	10	-1	46	38	15	10	-1	61.606119	46	38	0.219048	1	0	0	0	0	1	0	0	0	--	--		0	T			SP140_uc010zma.1_RNA|SP140_uc002vqk.2_Missense_Mutation_p.S215C|SP140_uc002vqn.2_Missense_Mutation_p.S215C|SP140_uc002vqm.2_Missense_Mutation_p.S215C|SP140_uc010fxl.2_Missense_Mutation_p.S215C	136	GBM-14-0789-TP	p.S215C	A	AGATGCACCCAGCCTACTACC	NM_007237	NP_009168	231109774	Q13342	LY10_HUMAN	0		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	6	758	+	T	T		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	Missense_Mutation	215						
SP3	0	broad.mit.edu	GRCh37	2	174820235	174820235	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-76-6285-01	TCGA-76-6285-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310015.6:c.1005T>C	p.Ser335=	p.S335=	ENST00000310015	NM_001172712.1	335	tcT/tcC	0			1			G	S	uc002uig.2	protein_coding	YES	CCDS2254.1			1005/2346							EWSR1/SP3(3)		soft_tissue(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6	c.(1003-1005)TCT>TCC			hmmpanther:PTHR23235,hmmpanther:PTHR23235:SF3	Sp3 transcription factor isoform 1				ENSP00000310301		7-Apr									COSM3407066	7-Apr	.		ENST00000310015	Transcript			negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	ENSG00000172845	g.chr2:174820235A>G	11208			LOW								--	--	1																																		SP3_uc002uie.2_Silent_p.S267S|SP3_uc002uif.2_Silent_p.S282S|SP3_uc010zel.1_Silent_p.S332S	1	1			p.S335S	NM_003111	NP_003102			1	SP3_HUMAN	SP3	HGNC	Q02447	SP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.185)		Q68DP2_HUMAN,H0Y6K5_HUMAN		4	1169	-			UPI000019B3E0	335					SNV	SP3,synonymous_variant,p.=,ENST00000310015,NM_001172712.1,NM_003111.4;SP3,synonymous_variant,p.=,ENST00000455789,;SP3,synonymous_variant,p.=,ENST00000418194,NM_001017371.4;SP3,synonymous_variant,p.=,ENST00000416195,;SP3,downstream_gene_variant,,ENST00000483084,;SP3,downstream_gene_variant,,ENST00000462904,;SP3,downstream_gene_variant,,ENST00000490182,;	uc002uig.2	c.1005T>C	1536/6359	3	3			c.1005T>C						2	SNP	c.(1003-1005)TCT>TCC	53	53	EWSR1/SP3(3)		soft_tissue(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6	Broad	Sp3 transcription factor isoform 1			174820235		0.378	ENSG00000172845	14736	g.chr2:174820235A>G	negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding							239.667439	KEEP	35	41	-1	52	68	35	41	-1	241.482971	52	68	0.390805	1	0	0	0	0	0	0	1	0	--	--		0	G			SP3_uc002uie.2_Silent_p.S267S|SP3_uc002uif.2_Silent_p.S282S|SP3_uc010zel.1_Silent_p.S332S	280	GBM-76-6285-TP	p.S335S	A	ACTGTGATGAAGAGGATGTTG	NM_003111	NP_003102	174820235	Q02447	SP3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.185)		4	1169	-	G	G			Silent	335						
SP4	0	broad.mit.edu	GRCh37	7	21550871	21550871	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-12-0688-01	TCGA-12-0688-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222584.3:c.2339A>G	p.Asn780Ser	p.N780S	ENST00000222584	NM_003112.3	780	aAc/aGc	0			1			G	N/S	uc003sva.2	protein_coding	YES	CCDS5373.1			2339/2355									ovary(3)|skin(2)	5	c.(2338-2340)AAC>AGC			hmmpanther:PTHR23235,hmmpanther:PTHR23235:SF5	Sp4 transcription factor				ENSP00000222584		6-Jun									COSM2153912	6-Jun	.		ENST00000222584	Transcript			regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	ENSG00000105866	g.chr7:21550871A>G	11209			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=SP4_HUMAN&rb=751&re=781&var=N780S	NA	getma.org/?cm=var&var=hg19,7,21550871,A,G&fts=all	N780S	--	--	1																																		SP4_uc003svb.2_Missense_Mutation_p.N467S	1	1		possibly_damaging(0.622)	p.N780S	NM_003112	NP_003103		tolerated_low_confidence(0.16)	1	SP4_HUMAN	SP4	HGNC	Q02446	SP4_HUMAN			Q32M51_HUMAN		6	2520	+			UPI000013C807	780					SNV	SP4,missense_variant,p.Asn780Ser,ENST00000222584,NM_003112.3;SP4,3_prime_UTR_variant,,ENST00000448246,;	uc003sva.2	c.2339A>G	2557/6126	3	3			c.2339A>G						7	SNP	c.(2338-2340)AAC>AGC	52	52			ovary(3)|skin(2)	5	Broad	Sp4 transcription factor			21550871		0.423	ENSG00000105866	14737	g.chr7:21550871A>G	regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding							90.897189	KEEP	19	17	-1	54	48	19	17	-1	97.535489	54	48	0.252101	1	0	0	0	0	1	0	0	0	--	--		0	G			SP4_uc003svb.2_Missense_Mutation_p.N467S	121	GBM-12-0688-TP	p.N780S	A	GTTTCAACCAACATGGAAGAA	NM_003112	NP_003103	21550871	Q02446	SP4_HUMAN	0			6	2520	+	G	G			Missense_Mutation	780						
SP4	0	broad.mit.edu	GRCh37	7	21469834	21469834	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-26-6174-01	TCGA-26-6174-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222584.3:c.1051T>A	p.Ser351Thr	p.S351T	ENST00000222584	NM_003112.3	351	Tca/Aca	0			1			A	S/T	uc003sva.2	protein_coding	YES	CCDS5373.1			1051/2355									ovary(3)|skin(2)	5	c.(1051-1053)TCA>ACA			hmmpanther:PTHR23235,hmmpanther:PTHR23235:SF5	Sp4 transcription factor				ENSP00000222584		6-Mar									COSM3748365	6-Mar	.		ENST00000222584	Transcript			regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	ENSG00000105866	g.chr7:21469834T>A	11209			MODERATE		-0.115	neutral	getma.org/?cm=msa&ty=f&p=SP4_HUMAN&rb=1&re=507&var=S351T	NA	getma.org/?cm=var&var=hg19,7,21469834,T,A&fts=all	S351T	--	--	1																																		SP4_uc003svb.2_Missense_Mutation_p.S38T	1	1		benign(0.017)	p.S351T	NM_003112	NP_003103		tolerated(0.95)	1	SP4_HUMAN	SP4	HGNC	Q02446	SP4_HUMAN			Q32M51_HUMAN		3	1232	+			UPI000013C807	351					SNV	SP4,missense_variant,p.Ser351Thr,ENST00000222584,NM_003112.3;SP4,intron_variant,,ENST00000432066,;SP4,intron_variant,,ENST00000448246,;SP4,downstream_gene_variant,,ENST00000440636,;	uc003sva.2	c.1051T>A	1269/6126	2	2			c.1051T>A						7	SNP	c.(1051-1053)TCA>ACA	34	34			ovary(3)|skin(2)	5	Broad	Sp4 transcription factor			21469834		0.502	ENSG00000105866	14737	g.chr7:21469834T>A	regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding							39.698619	KEEP	13	7	-1	32	52	13	7	-1	47.641895	32	52	0.195652	1	0	0	0	0	1	0	0	0	--	--		0	A			SP4_uc003svb.2_Missense_Mutation_p.S38T	188	GBM-26-6174-TP	p.S351T	T	TGCAAGCACATCAGCCAGTAG	NM_003112	NP_003103	21469834	Q02446	SP4_HUMAN	0			3	1232	+	A	A			Missense_Mutation	351						
SP6	0	broad.mit.edu	GRCh37	17	45925367	45925367	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5207-01	TCGA-28-5207-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342234.2:c.429C>T	p.Gly143=	p.G143=	ENST00000342234	NM_199262.2	143	ggC/ggT	0			1			A	G	uc002img.1	protein_coding		CCDS11520.1			429/1131									skin(1)	1	c.(427-429)GGC>GGT			hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF138	Sp6 transcription factor				ENSP00000340799		2-Feb									COSM3402967	2-Feb	.		ENST00000342234	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000189120	g.chr17:45925367G>A	14530			LOW								--	--	1																																		SP6_uc002imh.1_Silent_p.G143G	1				p.G143G	NM_199262	NP_954871			1	SP6_HUMAN	SP6	HGNC	Q3SY56	SP6_HUMAN					2	761	-			UPI000022A416	143					SNV	SP6,synonymous_variant,p.=,ENST00000536300,NM_001258248.1;SP6,synonymous_variant,p.=,ENST00000342234,NM_199262.2;	uc002img.1	c.429C>T	707/3795	2	2			c.429C>T						17	SNP	c.(427-429)GGC>GGT	28	28			skin(1)	1	Broad	Sp6 transcription factor			45925367		0.706	ENSG00000189120	14739	g.chr17:45925367G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							29.086612	KEEP	7	4	-1	7	13	7	4	-1	29.570451	7	13	0.357143	1	0	0	0	0	0	0	1	0	--	--		0	A			SP6_uc002imh.1_Silent_p.G143G	216	GBM-28-5207-TP	p.G143G	G	CCCCCGGGTGGCCAGGTGAGG	NM_199262	NP_954871	45925367	Q3SY56	SP6_HUMAN	0			2	761	-	A	A			Silent	143						
SP7	121340	broad.mit.edu	GRCh37	12	53722081	53722081	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0939-01	TCGA-06-0939-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000536324.2:c.1145G>C	p.Gly382Ala	p.G382A	ENST00000536324	NM_001173467.1	382	gGt/gCt	0			1			G	G/A	uc001sct.2	protein_coding		CCDS44897.1			1145/1296										0	c.(1144-1146)GGT>GCT			hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF12,Low_complexity_(Seg):seg	osterix				ENSP00000302812		2-Feb									COSM3398851	2-Feb	.		ENST00000303846	Transcript	1		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000170374	g.chr12:53722081C>G	17321			MODERATE		0.485	neutral	getma.org/?cm=msa&ty=f&p=SP7_HUMAN&rb=336&re=415&var=G382A	getma.org/pdb.php?prot=SP7_HUMAN&from=366&to=385&var=G382A	getma.org/?cm=var&var=hg19,12,53722081,C,G&fts=all	G382A	--	--	1																																OREG0021867	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	SP7_uc001scu.2_Missense_Mutation_p.G364A|SP7_uc001scv.2_Missense_Mutation_p.G382A	1			benign(0.002)	p.G382A	NM_152860	NP_690599		tolerated_low_confidence(0.38)	1	SP7_HUMAN	SP7	HGNC	Q8TDD2	SP7_HUMAN			F8VV67_HUMAN		2	1252	-			UPI000000D7AE	382					SNV	SP7,missense_variant,p.Gly382Ala,ENST00000536324,NM_001173467.1;SP7,missense_variant,p.Gly382Ala,ENST00000303846,NM_152860.1;SP7,missense_variant,p.Gly364Ala,ENST00000537210,;AAAS,upstream_gene_variant,,ENST00000550286,;SP7,downstream_gene_variant,,ENST00000547755,;AAAS,upstream_gene_variant,,ENST00000551724,;AAAS,upstream_gene_variant,,ENST00000548258,;	uc001sct.2	c.1145G>C	1253/2971	3	3			c.1145G>C						12	SNP	c.(1144-1146)GGT>GCT	64	64				0	Broad	osterix			53722081		0.672	ENSG00000170374	14740	g.chr12:53722081C>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							11.256385	KEEP	4	5	-1	19	21	4	5	-1	15.787355	19	21	0.138889	1	0	0	0	0	1	0	0	0	--	--		0	G	OREG0021867	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	SP7_uc001scu.2_Missense_Mutation_p.G364A|SP7_uc001scv.2_Missense_Mutation_p.G382A	78	GBM-06-0939-TP	p.G382A	C	GGGAGGGGGACCCGGGCCTGG	NM_152860	NP_690599	53722081	Q8TDD2	SP7_HUMAN	0			2	1252	-	G	G			Missense_Mutation	382						
SPACA1	0	broad.mit.edu	GRCh37	6	88769216	88769216	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-19-2629-01	TCGA-19-2629-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000237201.1:c.520A>C	p.Lys174Gln	p.K174Q	ENST00000237201	NM_030960.2	174	Aag/Cag	0			1			C	K/Q	uc003pmn.2	protein_coding	YES	CCDS5014.1			520/885										0	c.(520-522)AAG>CAG			hmmpanther:PTHR14997,hmmpanther:PTHR14997:SF2	sperm acrosome associated 1 precursor				ENSP00000237201		7-May									COSM2156304	7-May	.		ENST00000237201	Transcript				integral to membrane		ENSG00000118434	g.chr6:88769216A>C	14967			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=SACA1_HUMAN&rb=68&re=292&var=K174Q	NA	getma.org/?cm=var&var=hg19,6,88769216,A,C&fts=all	K174Q	--	--	1																																			1	1		benign(0.012)	p.K174Q	NM_030960	NP_112222		deleterious(0)	1	SACA1_HUMAN	SPACA1	HGNC	Q9HBV2	SACA1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.11)			5	637	+		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	UPI000003F5A0	174			Extracellular (Potential).		SNV	SPACA1,missense_variant,p.Lys174Gln,ENST00000237201,NM_030960.2;SPACA1,non_coding_transcript_exon_variant,,ENST00000462690,;SPACA1,non_coding_transcript_exon_variant,,ENST00000462227,;	uc003pmn.2	c.520A>C	637/1499	3	3			c.520A>C						6	SNP	c.(520-522)AAG>CAG	50	50				0	Broad	sperm acrosome associated 1 precursor			88769216		0.343	ENSG00000118434	14743	g.chr6:88769216A>C		integral to membrane								127.162762	KEEP	20	17	-1	11	14	20	17	-1	127.627134	11	14	0.596491	1	0	0	0	0	1	0	0	0	--	--		0	C				166	GBM-19-2629-TP	p.K174Q	A	AGAAGTACGCAAGGAAAGTCA	NM_030960	NP_112222	88769216	Q9HBV2	SACA1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.11)	5	637	+	C	C		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	Missense_Mutation	174			Extracellular (Potential).			
SPACA3	124912	broad.mit.edu	GRCh37	17	31322643	31322643	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-02-0047-01	TCGA-02-0047-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269053.3:c.252del	p.Ser85ValfsTer86	p.S85Vfs*86	ENST00000269053	NM_173847.3	84	tCc/tc	0			1			-	S/X	uc002hhs.1	protein_coding	YES	CCDS11275.1			251/648									ovary(2)	2	c.(250-252)TCCfs			Low_complexity_(Seg):seg,hmmpanther:PTHR11407:SF25,hmmpanther:PTHR11407	sperm acrosome associated 3				ENSP00000269053		5-Feb									COSM2148999	5-Feb	.		ENST00000269053	Transcript			cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding	ENSG00000141316	g.chr17:31322643delC	16260	1		HIGH								--	--	1																																		SPACA3_uc010cte.1_RNA	1	1			p.S84fs	NM_173847	NP_776246			1	SACA3_HUMAN	SPACA3	HGNC	Q8IXA5	SACA3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)				2	326	+			UPI00000361ED	84			Helical; Signal-anchor for type II membrane protein; (Potential).		deletion	SPACA3,frameshift_variant,p.Ser16ValfsTer86,ENST00000580599,;SPACA3,frameshift_variant,p.Ser85ValfsTer86,ENST00000269053,NM_173847.3;SPACA3,intron_variant,,ENST00000394638,;SPACA3,non_coding_transcript_exon_variant,,ENST00000394637,;SPACA3,non_coding_transcript_exon_variant,,ENST00000485015,;	uc002hhs.1	c.251delC	321/817	5	5			c.251delC						17	DEL	c.(250-252)TCCfs	63	63			ovary(2)	2	Broad	sperm acrosome associated 3			31322643		0.607	ENSG00000141316	14744	g.chr17:31322643delC	cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding																				0.38	1	1	0	1	0	0	0	0	0	--	--		0	-			SPACA3_uc010cte.1_RNA	3	GBM-02-0047-TP	p.S84fs	C	CTGCTACCCTCCAGTGAGGCC	NM_173847	NP_776246	31322643	Q8IXA5	SACA3_HUMAN	0	BRCA - Breast invasive adenocarcinoma(9;0.193)		2	326	+	-	-			Frame_Shift_Del	84			Helical; Signal-anchor for type II membrane protein; (Potential).			
SPACA3	0	broad.mit.edu	GRCh37	17	31322667	31322667	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6700-01	TCGA-06-6700-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269053.3:c.275G>A	p.Arg92His	p.R92H	ENST00000269053	NM_173847.3	92	cGt/cAt	0	A:0		1			A	R/H	uc002hhs.1	protein_coding	YES	CCDS11275.1			275/648									ovary(2)	2	c.(274-276)CGT>CAT			PROSITE_profiles:PS51348,hmmpanther:PTHR11407:SF25,hmmpanther:PTHR11407,Pfam_domain:PF00062,Gene3D:1.10.530.10,SMART_domains:SM00263,Superfamily_domains:SSF53955,Prints_domain:PR00135,Prints_domain:PR00137	sperm acrosome associated 3			A:0.0001	ENSP00000269053		5-Feb	4.12E-05					6.00E-05		6.06E-05	rs368023924,COSM177115	5-Feb	.		ENST00000269053	Transcript			cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding	ENSG00000141316	g.chr17:31322667G>A	16260			MODERATE		3.19	medium	getma.org/?cm=msa&ty=f&p=SACA3_HUMAN&rb=88&re=213&var=R92H	getma.org/pdb.php?prot=SACA3_HUMAN&from=88&to=213&var=R92H	getma.org/?cm=var&var=hg19,17,31322667,G,A&fts=all	R92H	--	--	1																																		SPACA3_uc010cte.1_RNA	0,1	1		possibly_damaging(0.822)	p.R92H	NM_173847	NP_776246		deleterious(0.02)	0,1	SACA3_HUMAN	SPACA3	HGNC	Q8IXA5	SACA3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)				2	350	+			UPI00000361ED	92			Extracellular (Potential).		SNV	SPACA3,missense_variant,p.Arg23His,ENST00000580599,;SPACA3,missense_variant,p.Arg92His,ENST00000269053,NM_173847.3;SPACA3,intron_variant,,ENST00000394638,;SPACA3,non_coding_transcript_exon_variant,,ENST00000394637,;SPACA3,non_coding_transcript_exon_variant,,ENST00000485015,;	uc002hhs.1	c.275G>A	345/817	1	1			c.275G>A						17	SNP	c.(274-276)CGT>CAT	58	58			ovary(2)	2	Broad	sperm acrosome associated 3			31322667		0.617	ENSG00000141316	14744	g.chr17:31322667G>A	cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding							5.914533	KEEP	1	5	-1	30	22	1	5	-1	13.49077	30	22	0.115385	1	0	0	0	0	1	0	0	0	--	--		0	A			SPACA3_uc010cte.1_RNA	114	GBM-06-6700-TP	p.R92H	G	CTCTACGGTCGTTGTGAACTG	NM_173847	NP_776246	31322667	Q8IXA5	SACA3_HUMAN	0	BRCA - Breast invasive adenocarcinoma(9;0.193)		2	350	+	A	A			Missense_Mutation	92			Extracellular (Potential).			
SPAG1	6674		GRCh37	8	101203698	101203698	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000388798.2:c.913G>A	p.Val305Ile	p.V305I	ENST00000388798	NM_003114.4	305	Gtt/Att	0																																																																																																																																																																																																																																												
SPAG16	0	broad.mit.edu	GRCh37	2	214204919	214204919	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-4213-01	TCGA-32-4213-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331683.5:c.569A>G	p.Lys190Arg	p.K190R	ENST00000331683	NM_024532.4	190	aAa/aGa	0			1			G	K/R	uc002veq.2	protein_coding	YES	CCDS2396.1			569/1896									ovary(1)|skin(1)	2	c.(568-570)AAA>AGA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14604:SF3,hmmpanther:PTHR14604	sperm associated antigen 16 isoform 1				ENSP00000332592		16-Jun									COSM3407553,COSM3407554	16-Jun	.		ENST00000331683	Transcript			cilium assembly	cilium axoneme|flagellar axoneme		ENSG00000144451	g.chr2:214204919A>G	23225			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=SPG16_HUMAN&rb=1&re=299&var=K190R	NA	getma.org/?cm=var&var=hg19,2,214204919,A,G&fts=all	K190R	--	--	1																																		SPAG16_uc010fuz.1_Missense_Mutation_p.K41R|SPAG16_uc002ver.2_Missense_Mutation_p.K136R|SPAG16_uc010zjk.1_Missense_Mutation_p.K96R|SPAG16_uc002vep.1_Intron|SPAG16_uc002ves.1_Missense_Mutation_p.K159R	1,1	1		possibly_damaging(0.488)	p.K190R	NM_024532	NP_078808		tolerated(0.05)	1,1	SPG16_HUMAN	SPAG16	HGNC	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Q53TL7_HUMAN,Q53TF1_HUMAN,Q53SC3_HUMAN,Q53RV6_HUMAN,Q53RF0_HUMAN,Q53R35_HUMAN,Q53QP6_HUMAN		6	661	+		Renal(323;0.00461)	UPI00001AFF12	190			Potential.		SNV	SPAG16,missense_variant,p.Lys159Arg,ENST00000413312,;SPAG16,missense_variant,p.Lys190Arg,ENST00000331683,NM_024532.4;SPAG16,missense_variant,p.Lys96Arg,ENST00000374309,;SPAG16,missense_variant,p.Lys190Arg,ENST00000447990,;SPAG16,missense_variant,p.Lys190Arg,ENST00000272898,;SPAG16,non_coding_transcript_exon_variant,,ENST00000414961,;SPAG16,3_prime_UTR_variant,,ENST00000452556,;SPAG16,3_prime_UTR_variant,,ENST00000406979,;SPAG16,3_prime_UTR_variant,,ENST00000440779,;	uc002veq.2	c.569A>G	664/2177	3	3			c.569A>G						2	SNP	c.(568-570)AAA>AGA	15	15			ovary(1)|skin(1)	2	Broad	sperm associated antigen 16 isoform 1			214204919		0.294	ENSG00000144451	14749	g.chr2:214204919A>G	cilium assembly	cilium axoneme|flagellar axoneme								54.711543	KEEP	12	7	-1	16	16	12	7	-1	55.817799	16	16	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	G			SPAG16_uc010fuz.1_Missense_Mutation_p.K41R|SPAG16_uc002ver.2_Missense_Mutation_p.K136R|SPAG16_uc010zjk.1_Missense_Mutation_p.K96R|SPAG16_uc002vep.1_Intron|SPAG16_uc002ves.1_Missense_Mutation_p.K159R	247	GBM-32-4213-TP	p.K190R	A	AAAATTCAGAAAGAACGTGAT	NM_024532	NP_078808	214204919	Q8N0X2	SPG16_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	6	661	+	G	G		Renal(323;0.00461)	Missense_Mutation	190			Potential.			
SPAG17	200162	broad.mit.edu	GRCh37	1	118548038	118548038	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0122-01	TCGA-06-0122-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336338.5:c.4775A>C	p.Gln1592Pro	p.Q1592P	ENST00000336338	NM_206996.2	1592	cAg/cCg	0			1			G	Q/P	uc001ehk.2	protein_coding	YES	CCDS899.1			4775/6672									upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	c.(4774-4776)CAG>CCG			hmmpanther:PTHR21963	sperm associated antigen 17				ENSP00000337804		32/49									COSM2149213	32/49	.		ENST00000336338	Transcript				cilium|flagellar axoneme|microtubule		ENSG00000155761	g.chr1:118548038T>G	26620			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=SPG17_HUMAN&rb=1231&re=1819&var=Q1592P	NA	getma.org/?cm=var&var=hg19,1,118548038,T,G&fts=all	Q1592P	--	--	1																																			1	1		probably_damaging(0.936)	p.Q1592P	NM_206996	NP_996879		deleterious(0)	1	SPG17_HUMAN	SPAG17	HGNC	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	A7LBF9_HUMAN		32	4843	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	UPI00001601FD	1592					SNV	SPAG17,missense_variant,p.Gln1592Pro,ENST00000336338,NM_206996.2;SPAG17,missense_variant,p.Gln72Pro,ENST00000437255,;	uc001ehk.2	c.4775A>C	4841/6924	3	3			c.4775A>C						1	SNP	c.(4774-4776)CAG>CCG	60	60			upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Broad	sperm associated antigen 17			118548038		0.448	ENSG00000155761	14750	g.chr1:118548038T>G		cilium|flagellar axoneme|microtubule								65.394518	KEEP	12	14	-1	37	38	12	14	-1	69.789958	37	38	0.273684	1	0	0	0	0	1	0	0	0	--	--		0	G				10	GBM-06-0122-TP	p.Q1592P	T	GCACTTTACCTGAAAAGTGTT	NM_206996	NP_996879	118548038	Q6Q759	SPG17_HUMAN	0		Lung(183;0.0858)	32	4843	-	G	G	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	Missense_Mutation	1592						
SPAG17	200162	broad.mit.edu	GRCh37	1	118640437	118640437	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0132-01	TCGA-06-0132-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336338.5:c.867A>G	p.Ile289Met	p.I289M	ENST00000336338	NM_206996.2	289	atA/atG	0			1			C	I/M	uc001ehk.2	protein_coding	YES	CCDS899.1			867/6672									upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	c.(865-867)ATA>ATG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21963	sperm associated antigen 17				ENSP00000337804		Jul-49									COSM3399593	Jul-49	.		ENST00000336338	Transcript				cilium|flagellar axoneme|microtubule		ENSG00000155761	g.chr1:118640437T>C	26620			MODERATE		2.08	medium	getma.org/?cm=msa&ty=f&p=SPG17_HUMAN&rb=1&re=609&var=I289M	NA	getma.org/?cm=var&var=hg19,1,118640437,T,C&fts=all	I289M	--	--	1																																			1	1		benign(0.069)	p.I289M	NM_206996	NP_996879		deleterious(0.04)	1	SPG17_HUMAN	SPAG17	HGNC	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	A7LBF9_HUMAN		7	935	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	UPI00001601FD	289			Potential.		SNV	SPAG17,missense_variant,p.Ile289Met,ENST00000336338,NM_206996.2;	uc001ehk.2	c.867A>G	933/6924	3	3			c.867A>G						1	SNP	c.(865-867)ATA>ATG	64	64			upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Broad	sperm associated antigen 17			118640437		0.333	ENSG00000155761	14750	g.chr1:118640437T>C		cilium|flagellar axoneme|microtubule								23.834033	KEEP	7	6	-1	38	58	7	6	-1	37.748387	38	58	0.121212	1	0	0	0	0	1	0	0	0	--	--		0	C				17	GBM-06-0132-TP	p.I289M	T	TAAGCTCTTTTATGGCATTTT	NM_206996	NP_996879	118640437	Q6Q759	SPG17_HUMAN	0		Lung(183;0.0858)	7	935	-	C	C	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	Missense_Mutation	289			Potential.			
SPAG17	200162	broad.mit.edu	GRCh37	1	118558655	118558655	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-1804-01	TCGA-06-1804-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336338.5:c.4220G>T	p.Gly1407Val	p.G1407V	ENST00000336338	NM_206996.2	1407	gGa/gTa	0			1			A	G/V	uc001ehk.2	protein_coding	YES	CCDS899.1			4220/6672									upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	c.(4219-4221)GGA>GTA			hmmpanther:PTHR21963	sperm associated antigen 17				ENSP00000337804		29/49									COSM2152464	29/49	.		ENST00000336338	Transcript				cilium|flagellar axoneme|microtubule		ENSG00000155761	g.chr1:118558655C>A	26620			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=SPG17_HUMAN&rb=1231&re=1819&var=G1407V	NA	getma.org/?cm=var&var=hg19,1,118558655,C,A&fts=all	G1407V	--	--	1																																			1	1		probably_damaging(0.999)	p.G1407V	NM_206996	NP_996879		deleterious(0)	1	SPG17_HUMAN	SPAG17	HGNC	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	A7LBF9_HUMAN		29	4288	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	UPI00001601FD	1407					SNV	SPAG17,missense_variant,p.Gly1407Val,ENST00000336338,NM_206996.2;	uc001ehk.2	c.4220G>T	4286/6924	2	2			c.4220G>T						1	SNP	c.(4219-4221)GGA>GTA	32	32			upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Broad	sperm associated antigen 17			118558655		0.448	ENSG00000155761	14750	g.chr1:118558655C>A		cilium|flagellar axoneme|microtubule								51.975221	KEEP	14	8	0.363636364	10	18	14	8	0.363636364	52.148336	10	18	0.434783	1	0	0	0	0	1	0	0	0	--	--		0	A				79	GBM-06-1804-TP	p.G1407V	C	TCTTTCTAATCCTTTGGTGCC	NM_206996	NP_996879	118558655	Q6Q759	SPG17_HUMAN	0		Lung(183;0.0858)	29	4288	-	A	A	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	Missense_Mutation	1407						
SPAG17	200162	broad.mit.edu	GRCh37	1	118539227	118539227	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-5856-01	TCGA-06-5856-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336338.5:c.4916T>A	p.Val1639Asp	p.V1639D	ENST00000336338	NM_206996.2	1639	gTc/gAc	0		T:0.0008	1	T:0		T	V/D	uc001ehk.2	protein_coding	YES	CCDS899.1			4916/6672									upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	c.(4915-4917)GTC>GAC			hmmpanther:PTHR21963	sperm associated antigen 17		T:0		ENSP00000337804	T:0	33/49	8.24E-06	9.88E-05							rs548598350,COSM3399587	33/49	.		ENST00000336338	Transcript		T:0.0002		cilium|flagellar axoneme|microtubule		ENSG00000155761	g.chr1:118539227A>T	26620			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=SPG17_HUMAN&rb=1231&re=1819&var=V1639D	NA	getma.org/?cm=var&var=hg19,1,118539227,A,T&fts=all	V1639D	--	--	1																																			0,1	1		probably_damaging(0.991)	p.V1639D	NM_206996	NP_996879	T:0	deleterious(0)	0,1	SPG17_HUMAN	SPAG17	HGNC	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	A7LBF9_HUMAN		33	4984	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	UPI00001601FD	1639					SNV	SPAG17,missense_variant,p.Val1639Asp,ENST00000336338,NM_206996.2;SPAG17,missense_variant,p.Val119Asp,ENST00000437255,;	uc001ehk.2	c.4916T>A	4982/6924	1	1			c.4916T>A						1	SNP	c.(4915-4917)GTC>GAC	5	5			upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Broad	sperm associated antigen 17			118539227		0.299	ENSG00000155761	14750	g.chr1:118539227A>T		cilium|flagellar axoneme|microtubule								41.885617	KEEP	11	5	-1	11	17	11	5	-1	42.350111	11	17	0.384615	1	0	0	0	0	1	0	0	0	--	--		0	T				101	GBM-06-5856-TP	p.V1639D	A	TTACCTGGGGACATGTTCACC	NM_206996	NP_996879	118539227	Q6Q759	SPG17_HUMAN	0		Lung(183;0.0858)	33	4984	-	T	T	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	Missense_Mutation	1639						
SPAG17	0	broad.mit.edu	GRCh37	1	118628591	118628591	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-14-0790-01	TCGA-14-0790-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336338.5:c.1716T>G	p.Thr572=	p.T572=	ENST00000336338	NM_206996.2	572	acT/acG	0			1			C	T	uc001ehk.2	protein_coding	YES	CCDS899.1			1716/6672									upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	c.(1714-1716)ACT>ACG			hmmpanther:PTHR21963	sperm associated antigen 17				ENSP00000337804		13/49									COSM3399592	13/49	.		ENST00000336338	Transcript				cilium|flagellar axoneme|microtubule		ENSG00000155761	g.chr1:118628591A>C	26620			LOW								--	--	1																																			1	1			p.T572T	NM_206996	NP_996879			1	SPG17_HUMAN	SPAG17	HGNC	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	A7LBF9_HUMAN		13	1784	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	UPI00001601FD	572					SNV	SPAG17,synonymous_variant,p.=,ENST00000336338,NM_206996.2;SPAG17,upstream_gene_variant,,ENST00000477444,;SPAG17,downstream_gene_variant,,ENST00000463628,;SPAG17,upstream_gene_variant,,ENST00000473472,;	uc001ehk.2	c.1716T>G	1782/6924	3	3			c.1716T>G						1	SNP	c.(1714-1716)ACT>ACG	2	2			upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Broad	sperm associated antigen 17			118628591		0.388	ENSG00000155761	14750	g.chr1:118628591A>C		cilium|flagellar axoneme|microtubule								284.886941	KEEP	48	49	-1	63	62	48	49	-1	285.217907	63	62	0.455497	1	0	0	0	0	0	0	1	0	--	--		0	C				137	GBM-14-0790-TP	p.T572T	A	CTAGACGTTTAGTGTTGTTCC	NM_206996	NP_996879	118628591	Q6Q759	SPG17_HUMAN	0		Lung(183;0.0858)	13	1784	-	C	C	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	Silent	572						
SPAG17	0	broad.mit.edu	GRCh37	1	118524021	118524021	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-26-6174-01	TCGA-26-6174-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336338.5:c.5876T>C	p.Phe1959Ser	p.F1959S	ENST00000336338	NM_206996.2	1959	tTc/tCc	0			1			G	F/S	uc001ehk.2	protein_coding	YES	CCDS899.1			5876/6672									upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	c.(5875-5877)TTC>TCC			hmmpanther:PTHR21963	sperm associated antigen 17				ENSP00000337804		43/49									COSM3399586	43/49	.		ENST00000336338	Transcript				cilium|flagellar axoneme|microtubule		ENSG00000155761	g.chr1:118524021A>G	26620			MODERATE		-1.245	neutral	getma.org/?cm=msa&ty=f&p=SPG17_HUMAN&rb=1821&re=2222&var=F1959S	NA	getma.org/?cm=var&var=hg19,1,118524021,A,G&fts=all	F1959S	--	--	1																																			1	1		benign(0.001)	p.F1959S	NM_206996	NP_996879		tolerated(0.43)	1	SPG17_HUMAN	SPAG17	HGNC	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	A7LBF9_HUMAN		43	5944	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	UPI00001601FD	1959					SNV	SPAG17,missense_variant,p.Phe1959Ser,ENST00000336338,NM_206996.2;SPAG17,missense_variant,p.Phe439Ser,ENST00000437255,;SPAG17,non_coding_transcript_exon_variant,,ENST00000492438,;SPAG17,non_coding_transcript_exon_variant,,ENST00000483383,;	uc001ehk.2	c.5876T>C	5942/6924	3	3			c.5876T>C						1	SNP	c.(5875-5877)TTC>TCC	4	4			upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Broad	sperm associated antigen 17			118524021		0.338	ENSG00000155761	14750	g.chr1:118524021A>G		cilium|flagellar axoneme|microtubule								35.200735	KEEP	8	10	-1	40	38	8	10	-1	43.605451	40	38	0.170732	1	0	0	0	0	1	0	0	0	--	--		0	G				188	GBM-26-6174-TP	p.F1959S	A	ATGTGGCTTGAAATCTAGAAA	NM_206996	NP_996879	118524021	Q6Q759	SPG17_HUMAN	0		Lung(183;0.0858)	43	5944	-	G	G	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	Missense_Mutation	1959						
SPAG17	0	broad.mit.edu	GRCh37	1	118598400	118598400	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-27-1834-01	TCGA-27-1834-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336338.5:c.2678A>T	p.Lys893Ile	p.K893I	ENST00000336338	NM_206996.2	893	aAa/aTa	0			1			A	K/I	uc001ehk.2	protein_coding	YES	CCDS899.1			2678/6672									upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	c.(2677-2679)AAA>ATA			hmmpanther:PTHR21963	sperm associated antigen 17				ENSP00000337804		19/49									COSM3399589	19/49	.		ENST00000336338	Transcript				cilium|flagellar axoneme|microtubule		ENSG00000155761	g.chr1:118598400T>A	26620			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=SPG17_HUMAN&rb=611&re=999&var=K893I	NA	getma.org/?cm=var&var=hg19,1,118598400,T,A&fts=all	K893I	--	--	1																																			1	1		benign(0.015)	p.K893I	NM_206996	NP_996879		tolerated(0.07)	1	SPG17_HUMAN	SPAG17	HGNC	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	A7LBF9_HUMAN		19	2746	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	UPI00001601FD	893					SNV	SPAG17,missense_variant,p.Lys893Ile,ENST00000336338,NM_206996.2;SPAG17,non_coding_transcript_exon_variant,,ENST00000477444,;	uc001ehk.2	c.2678A>T	2744/6924	2	2			c.2678A>T						1	SNP	c.(2677-2679)AAA>ATA	47	47			upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Broad	sperm associated antigen 17			118598400		0.323	ENSG00000155761	14750	g.chr1:118598400T>A		cilium|flagellar axoneme|microtubule								-23.446004	KEEP	3	3	-1	83	69	3	3	-1	9.04498	83	69	0.035971	1	0	0	0	0	1	0	0	0	--	--		0	A				193	GBM-27-1834-TP	p.K893I	T	AGAAGTAAGTTTGGCATTAGC	NM_206996	NP_996879	118598400	Q6Q759	SPG17_HUMAN	0		Lung(183;0.0858)	19	2746	-	A	A	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	Missense_Mutation	893						
SPAG17	0	broad.mit.edu	GRCh37	1	118574428	118574428	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336338.5:c.3496G>T	p.Val1166Phe	p.V1166F	ENST00000336338	NM_206996.2	1166	Gtt/Ttt	0			1			A	V/F	uc001ehk.2	protein_coding	YES	CCDS899.1			3496/6672									upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	c.(3496-3498)GTT>TTT			hmmpanther:PTHR21963,Low_complexity_(Seg):seg	sperm associated antigen 17				ENSP00000337804		25/49	1.65E-05			0.000231					rs766904011,COSM3399588	25/49	.		ENST00000336338	Transcript				cilium|flagellar axoneme|microtubule		ENSG00000155761	g.chr1:118574428C>A	26620			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=SPG17_HUMAN&rb=1001&re=1229&var=V1166F	NA	getma.org/?cm=var&var=hg19,1,118574428,C,A&fts=all	V1166F	--	--	1																																			0,1	1		possibly_damaging(0.603)	p.V1166F	NM_206996	NP_996879		deleterious(0)	0,1	SPG17_HUMAN	SPAG17	HGNC	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	A7LBF9_HUMAN		25	3564	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	UPI00001601FD	1166					SNV	SPAG17,missense_variant,p.Val1166Phe,ENST00000336338,NM_206996.2;SPAG17,non_coding_transcript_exon_variant,,ENST00000470550,;SPAG17,non_coding_transcript_exon_variant,,ENST00000486589,;	uc001ehk.2	c.3496G>T	3562/6924	1	1			c.3496G>T						1	SNP	c.(3496-3498)GTT>TTT	53	53			upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Broad	sperm associated antigen 17			118574428		0.353	ENSG00000155761	14750	g.chr1:118574428C>A		cilium|flagellar axoneme|microtubule								305.841831	KEEP	57	56	0.495575221	93	78	57	56	0.495575221	308.610146	93	78	0.390977	1	0	0	0	0	1	0	0	0	--	--		0	A				218	GBM-28-5209-TP	p.V1166F	C	ATAACAGGAACCACTGTTGGA	NM_206996	NP_996879	118574428	Q6Q759	SPG17_HUMAN	0		Lung(183;0.0858)	25	3564	-	A	A	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	Missense_Mutation	1166						
SPAG17	200162		GRCh37	1	118624163	118624163	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000336338.5:c.1865G>C	p.Gly622Ala	p.G622A	ENST00000336338	NM_206996.2	622	gGg/gCg	0																																																																																																																																																																																																																																												
SPAG17	200162		GRCh37	1	118548128	118548128	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000336338.5:c.4685A>G	p.Lys1562Arg	p.K1562R	ENST00000336338	NM_206996.2	1562	aAg/aGg	0																																																																																																																																																																																																																																												
SPAG4	6676	broad.mit.edu	GRCh37	20	34206899	34206899	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01	TCGA-06-0743-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374273.3:c.772G>A	p.Asp258Asn	p.D258N	ENST00000374273	NM_003116.1	258	Gac/Aac	0			1			A	D/N	uc002xdb.1	protein_coding	YES	CCDS13259.1			772/1314										0	c.(772-774)GAC>AAC			hmmpanther:PTHR12911,hmmpanther:PTHR12911:SF16	sperm associated antigen 4				ENSP00000363391		12-Aug									COSM3405045	12-Aug	.		ENST00000374273	Transcript			spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity	ENSG00000061656	g.chr20:34206899G>A	11214			MODERATE		2.28	medium	getma.org/?cm=msa&ty=f&p=SPAG4_HUMAN&rb=98&re=290&var=D258N	NA	getma.org/?cm=var&var=hg19,20,34206899,G,A&fts=all	D258N	--	--	1																																		SPAG4_uc010zvi.1_Missense_Mutation_p.D181N	1	1		probably_damaging(0.999)	p.D258N	NM_003116	NP_003107		deleterious(0)	1	SPAG4_HUMAN	SPAG4	HGNC	Q9NPE6	SPAG4_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0127)		C9JJZ6_HUMAN		8	889	+	Lung NSC(9;0.0053)|all_lung(11;0.00785)		UPI0000135D8F	258					SNV	SPAG4,missense_variant,p.Asp258Asn,ENST00000374273,NM_003116.1;SPAG4,missense_variant,p.Asp133Asn,ENST00000454819,;SPAG4,upstream_gene_variant,,ENST00000430878,;SPAG4,downstream_gene_variant,,ENST00000462896,;SPAG4,non_coding_transcript_exon_variant,,ENST00000468248,;SPAG4,non_coding_transcript_exon_variant,,ENST00000498203,;SPAG4,downstream_gene_variant,,ENST00000463973,;	uc002xdb.1	c.772G>A	884/1453	2	2			c.772G>A						20	SNP	c.(772-774)GAC>AAC	43	43				0	Broad	sperm associated antigen 4			34206899		0.468	ENSG00000061656	14751	g.chr20:34206899G>A	spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity							47.659986	KEEP	12	11	-1	25	47	12	11	-1	53.106967	25	47	0.235294	1	0	0	0	0	1	0	0	0	--	--		0	A			SPAG4_uc010zvi.1_Missense_Mutation_p.D181N	65	GBM-06-0743-TP	p.D258N	G	GCGGAAGCCCGACTATGCTTT	NM_003116	NP_003107	34206899	Q9NPE6	SPAG4_HUMAN	0	BRCA - Breast invasive adenocarcinoma(18;0.0127)		8	889	+	A	A	Lung NSC(9;0.0053)|all_lung(11;0.00785)		Missense_Mutation	258						
SPAG5	10615	broad.mit.edu	GRCh37	17	26911445	26911445	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-2561-01	TCGA-06-2561-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321765.5:c.2215C>G	p.Leu739Val	p.L739V	ENST00000321765	NM_006461.3	739	Cta/Gta	0			1			C	L/V	uc002hbq.2	protein_coding	YES	CCDS32594.1			2215/3582									central_nervous_system(1)	1	c.(2215-2217)CTA>GTA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15347,hmmpanther:PTHR15347:SF0	sperm associated antigen 5				ENSP00000323300		24-Dec									COSM2152732	24-Dec	.		ENST00000321765	Transcript			cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	ENSG00000076382	g.chr17:26911445G>C	13452			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=SPAG5_HUMAN&rb=318&re=1191&var=L739V	NA	getma.org/?cm=var&var=hg19,17,26911445,G,C&fts=all	L739V	--	--	1																																		SGK494_uc010waq.1_Intron	1	1		possibly_damaging(0.797)	p.L739V	NM_006461	NP_006452		deleterious(0.04)	1	SPAG5_HUMAN	SPAG5	HGNC	Q96R06	SPAG5_HUMAN					12	2307	-	Lung NSC(42;0.00431)		UPI0000073414	739			Gln-rich.		SNV	SPAG5,missense_variant,p.Leu739Val,ENST00000321765,NM_006461.3;SPAG5,incomplete_terminal_codon_variant,p.=,ENST00000584206,;RP11-192H23.4,intron_variant,,ENST00000531839,;SPAG5,missense_variant,p.Leu23Val,ENST00000378976,;SPAG5,3_prime_UTR_variant,,ENST00000580083,;RP11-192H23.4,intron_variant,,ENST00000481916,;SPAG5,upstream_gene_variant,,ENST00000580406,;SPAG5,upstream_gene_variant,,ENST00000581133,;SPAG5,upstream_gene_variant,,ENST00000577259,;SPAG5,upstream_gene_variant,,ENST00000580682,;SPAG5,upstream_gene_variant,,ENST00000578230,;	uc002hbq.2	c.2215C>G	2548/4040	3	3			c.2215C>G						17	SNP	c.(2215-2217)CTA>GTA	59	59			central_nervous_system(1)	1	Broad	sperm associated antigen 5			26911445		0.512	ENSG00000076382	14752	g.chr17:26911445G>C	cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding							308.175086	KEEP	57	55	-1	143	179	57	55	-1	327.402397	143	179	0.264935	1	0	0	0	0	1	0	0	0	--	--		0	C			SGK494_uc010waq.1_Intron	84	GBM-06-2561-TP	p.L739V	G	TGACTCTGTAGCTCTTTTAGC	NM_006461	NP_006452	26911445	Q96R06	SPAG5_HUMAN	0			12	2307	-	C	C	Lung NSC(42;0.00431)		Missense_Mutation	739			Gln-rich.			
SPAG5	0	broad.mit.edu	GRCh37	17	26907060	26907064	+	frameshift_variant	Frame_Shift_Del	DEL	GGAAG	GGAAG	-			TCGA-76-4926-01	TCGA-76-4926-01	GGAAG	GGAAG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321765.5:c.2760_2764delCTTCC	p.Phe921GlyfsTer10	p.F921Gfs*10	ENST00000321765	NM_006461.3	920	acCTTCCtg/actg	0			1			-	TFL/TX	uc002hbq.2	protein_coding	YES	CCDS32594.1			2760-2764/3582									central_nervous_system(1)	1	c.(2758-2766)ACCTTCCTGfs			hmmpanther:PTHR15347,hmmpanther:PTHR15347:SF0	sperm associated antigen 5				ENSP00000323300		16/24										16/24	.		ENST00000321765	Transcript			cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	ENSG00000076382	g.chr17:26907060_26907064delGGAAG	13452			HIGH								--	--	1																																		SGK494_uc010waq.1_Frame_Shift_Del_p.T325fs		1			p.T920fs	NM_006461	NP_006452				SPAG5_HUMAN	SPAG5	HGNC	Q96R06	SPAG5_HUMAN					16	2852_2856	-	Lung NSC(42;0.00431)		UPI0000073414	920_922					deletion	SPAG5,frameshift_variant,p.Phe921GlyfsTer10,ENST00000321765,NM_006461.3;RP11-192H23.4,frameshift_variant,p.Phe326GlyfsTer?,ENST00000531839,;ALDOC,upstream_gene_variant,,ENST00000226253,NM_005165.2;ALDOC,upstream_gene_variant,,ENST00000395321,;ALDOC,upstream_gene_variant,,ENST00000395319,;ALDOC,upstream_gene_variant,,ENST00000460201,;ALDOC,upstream_gene_variant,,ENST00000578590,;SPAG5,upstream_gene_variant,,ENST00000582076,;SPAG5,downstream_gene_variant,,ENST00000584206,;ALDOC,upstream_gene_variant,,ENST00000584086,;ALDOC,upstream_gene_variant,,ENST00000581807,;ALDOC,upstream_gene_variant,,ENST00000435638,;SPAG5,3_prime_UTR_variant,,ENST00000580083,;SPAG5,3_prime_UTR_variant,,ENST00000378976,;SPAG5,3_prime_UTR_variant,,ENST00000578230,;SPAG5,non_coding_transcript_exon_variant,,ENST00000580406,;SPAG5,non_coding_transcript_exon_variant,,ENST00000581133,;SPAG5,non_coding_transcript_exon_variant,,ENST00000577259,;SPAG5,non_coding_transcript_exon_variant,,ENST00000580682,;RP11-192H23.4,intron_variant,,ENST00000481916,;SPAG5,upstream_gene_variant,,ENST00000580676,;SPAG5,upstream_gene_variant,,ENST00000582175,;ALDOC,upstream_gene_variant,,ENST00000582381,;SPAG5,upstream_gene_variant,,ENST00000580377,;	uc002hbq.2	c.2760_2764delCTTCC	3093-3097/4040	5	5			c.2760_2764delCTTCC						17	DEL	c.(2758-2766)ACCTTCCTGfs	23	23			central_nervous_system(1)	1	Broad	sperm associated antigen 5			26907064		0.507	ENSG00000076382	14752	g.chr17:26907060_26907064delGGAAG	cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding																				0.29	1	1	0	1	0	0	0	0	0	--	--		0	-			SGK494_uc010waq.1_Frame_Shift_Del_p.T325fs	266	GBM-76-4926-TP	p.T920fs	GGAAG	ATGCTTCCCAGGAAGGTCCTGTCAT	NM_006461	NP_006452	26907060	Q96R06	SPAG5_HUMAN	0			16	2852_2856	-	-	-	Lung NSC(42;0.00431)		Frame_Shift_Del	920_922						
SPAG8	26206	broad.mit.edu	GRCh37	9	35810291	35810291	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-02-2470-01	TCGA-02-2470-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340291.2:c.1216C>A	p.Gln406Lys	p.Q406K	ENST00000340291	NM_172312.1	406	Cag/Aag	0			1			T	Q/K	uc003zye.2	nonsense_mediated_decay					1216/1281									ovary(1)	1	c.(1216-1218)CAG>AAG			hmmpanther:PTHR15510	sperm associated antigen 8 isoform 2				ENSP00000418530		7-Jun									COSM3413647,COSM3413648	7-Jun	.		ENST00000475644	Transcript				acrosomal vesicle|membrane		ENSG00000137098	g.chr9:35810291G>T	14105			MODERATE		0.755	neutral	getma.org/?cm=msa&ty=f&p=SPAG8_HUMAN&rb=1&re=419&var=Q406K	NA	getma.org/?cm=var&var=hg19,9,35810291,G,T&fts=all	Q406K	--	--	1																																		SPAG8_uc003zyf.2_Missense_Mutation_p.Q323K|SPAG8_uc003zyg.2_Missense_Mutation_p.Q406K	1,1			benign(0.09)	p.Q406K	NM_172312	NP_758516		tolerated(0.63)	1,1	SPAG8_HUMAN	SPAG8	HGNC	Q99932	SPAG8_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		F8WBP3_HUMAN		6	1331	-	all_epithelial(49;0.161)		UPI0000072B9C	406					SNV	SPAG8,missense_variant,p.Gln406Lys,ENST00000340291,NM_172312.1;SPAG8,missense_variant,p.Gln406Lys,ENST00000396638,NM_001039592.1;SPAG8,missense_variant,p.Gln404Lys,ENST00000497810,;SPAG8,splice_region_variant,,ENST00000484764,;NPR2,downstream_gene_variant,,ENST00000342694,NM_003995.3;TMEM8B,upstream_gene_variant,,ENST00000377996,;NPR2,downstream_gene_variant,,ENST00000421267,;HINT2,downstream_gene_variant,,ENST00000259667,NM_032593.2;NPR2,downstream_gene_variant,,ENST00000447210,;AL133410.1,downstream_gene_variant,,ENST00000582432,;SPAG8,non_coding_transcript_exon_variant,,ENST00000479751,;SPAG8,intron_variant,,ENST00000463889,;HINT2,downstream_gene_variant,,ENST00000474908,;HINT2,downstream_gene_variant,,ENST00000474848,;HINT2,downstream_gene_variant,,ENST00000461169,;HINT2,downstream_gene_variant,,ENST00000490578,;SPAG8,upstream_gene_variant,,ENST00000489063,;HINT2,downstream_gene_variant,,ENST00000472085,;HINT2,downstream_gene_variant,,ENST00000471774,;SPAG8,missense_variant,p.Gln406Lys,ENST00000475644,;SPAG8,3_prime_UTR_variant,,ENST00000472605,;SPAG8,3_prime_UTR_variant,,ENST00000495667,;SPAG8,3_prime_UTR_variant,,ENST00000471631,;SPAG8,non_coding_transcript_exon_variant,,ENST00000460836,;NPR2,downstream_gene_variant,,ENST00000464810,;NPR2,downstream_gene_variant,,ENST00000448821,;NPR2,downstream_gene_variant,,ENST00000469249,;	uc003zye.2	c.1216C>A	1331/2481	1	1			c.1216C>A						9	SNP	c.(1216-1218)CAG>AAG	15	15			ovary(1)	1	Broad	sperm associated antigen 8 isoform 2			35810291		0.607	ENSG00000137098	14755	g.chr9:35810291G>T		acrosomal vesicle|membrane				7			7	-73.53374	KEEP	4	3	0.571428571	177	189	4	3	0.571428571	12.204551	177	189	0.020958	1	0	0	0	0	1	0	0	0	--	--		0	T			SPAG8_uc003zyf.2_Missense_Mutation_p.Q323K|SPAG8_uc003zyg.2_Missense_Mutation_p.Q406K	5	GBM-02-2470-TP	p.Q406K	G	GGTTGCTCCTGGCGGTAGTCG	NM_172312	NP_758516	35810291	Q99932	SPAG8_HUMAN	0	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		6	1331	-	T	T	all_epithelial(49;0.161)		Missense_Mutation	406						
SPAG9	0	broad.mit.edu	GRCh37	17	49071128	49071128	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6700-01	TCGA-06-6700-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262013.7:c.2395C>T	p.Pro799Ser	p.P799S	ENST00000262013	NM_001130528.2	799	Cca/Tca	0			1			A	P/S	uc002itc.2	protein_coding	YES	CCDS45740.1			2395/3966									lung(4)|breast(1)	5	c.(2395-2397)CCA>TCA			hmmpanther:PTHR13886	sperm associated antigen 9 isoform 1				ENSP00000262013		19/30									COSM3403001,COSM3403000	19/30	.		ENST00000262013	Transcript			positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		ENSG00000008294	g.chr17:49071128G>A	14524			MODERATE		2.005	medium	getma.org/?cm=msa&ty=f&p=JIP4_HUMAN&rb=782&re=981&var=P799S	NA	getma.org/?cm=var&var=hg19,17,49071128,G,A&fts=all	P799S	--	--	1																																		SPAG9_uc002itb.2_Missense_Mutation_p.P785S|SPAG9_uc002itd.2_Missense_Mutation_p.P789S|SPAG9_uc002itf.2_Missense_Mutation_p.P620S|SPAG9_uc002ita.2_Missense_Mutation_p.P642S|SPAG9_uc002ite.2_Missense_Mutation_p.P629S	1,1	1		benign(0.411)	p.P799S	NM_001130528	NP_001124000		deleterious(0.01)	1,1	JIP4_HUMAN	SPAG9	HGNC	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		H0Y981_HUMAN		19	2604	-			UPI0000D60DF7	799					SNV	SPAG9,missense_variant,p.Pro799Ser,ENST00000262013,NM_001130528.2;SPAG9,missense_variant,p.Pro642Ser,ENST00000510283,NM_001251971.1;SPAG9,missense_variant,p.Pro785Ser,ENST00000357122,NM_003971.5;SPAG9,missense_variant,p.Pro789Ser,ENST00000505279,NM_001130527.2;SPAG9,missense_variant,p.Pro58Ser,ENST00000513906,;SPAG9,non_coding_transcript_exon_variant,,ENST00000514613,;SPAG9,non_coding_transcript_exon_variant,,ENST00000505173,;SPAG9,downstream_gene_variant,,ENST00000506483,;SPAG9,upstream_gene_variant,,ENST00000513746,;SPAG9,downstream_gene_variant,,ENST00000513827,;SPAG9,upstream_gene_variant,,ENST00000514205,;SPAG9,downstream_gene_variant,,ENST00000515685,;	uc002itc.2	c.2395C>T	2604/8273	2	2			c.2395C>T						17	SNP	c.(2395-2397)CCA>TCA	32	32			lung(4)|breast(1)	5	Broad	sperm associated antigen 9 isoform 1			49071128		0.328	ENSG00000008294	14756	g.chr17:49071128G>A	positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm								-2.01315	KEEP	1	2	-1	20	28	1	2	-1	6.477561	20	28	0.068182	1	0	0	0	0	1	0	0	0	--	--		0	A			SPAG9_uc002itb.2_Missense_Mutation_p.P785S|SPAG9_uc002itd.2_Missense_Mutation_p.P789S|SPAG9_uc002itf.2_Missense_Mutation_p.P620S|SPAG9_uc002ita.2_Missense_Mutation_p.P642S|SPAG9_uc002ite.2_Missense_Mutation_p.P629S	114	GBM-06-6700-TP	p.P799S	G	CTCTTACCTGGCACACTTGCA	NM_001130528	NP_001124000	49071128	O60271	JIP4_HUMAN	0	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		19	2604	-	A	A			Missense_Mutation	799						
SPAG9	9043		GRCh37	17	49062314	49062314	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000262013.7:c.3058G>A	p.Gly1020Ser	p.G1020S	ENST00000262013	NM_001130528.2	1020	Ggc/Agc	0																																																																																																																																																																																																																																												
SPANXC	0	broad.mit.edu	GRCh37	X	140335819	140335820	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	rs57835830	byFrequency	TCGA-12-0821-01	TCGA-12-0821-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358993.2:c.124dupA	p.Met42AsnfsTer5	p.M42Nfs*5	ENST00000358993	NM_022661.2	42	atg/aAtg	0			1			T	M/NX	uc004fbk.2	protein_coding	YES	CCDS14673.1			124-125/294										0	c.(124-126)ATGfs			hmmpanther:PTHR23425:SF1,hmmpanther:PTHR23425,Pfam_domain:PF07458	sperm protein associated with the nucleus, X				ENSP00000351884		2-Feb										2-Feb	.		ENST00000358993	Transcript				cytoplasm|nucleus		ENSG00000198573	g.chrX:140335819_140335820insT	14331			HIGH								--	--	1																																		SPANXC_uc004fbl.2_RNA		1			p.M42fs	NM_022661	NP_073152				SPNXC_HUMAN	SPANXC	HGNC	Q9NY87	SPNXC_HUMAN					2	180_181	-	Acute lymphoblastic leukemia(192;7.65e-05)		UPI000003B20F	42			Nuclear localization signal (Potential).		insertion	SPANXC,frameshift_variant,p.Met42AsnfsTer5,ENST00000358993,NM_022661.2;	uc004fbk.2	c.124_125insA	163-164/387	5	5			c.124_125insA						23	INS	c.(124-126)ATGfs	34	34				0	Broad	sperm protein associated with the nucleus, X			140335820		0.5	ENSG00000198573	14758	g.chrX:140335819_140335820insT		cytoplasm|nucleus																					0.15	1	0	0	1	1	0	0	0	0	--	--		0	T			SPANXC_uc004fbl.2_RNA	123	GBM-12-0821-TP	p.M42fs	-	AGATGTTTTCATTTTTTTAGGA	NM_022661	NP_073152	140335819	Q9NY87	SPNXC_HUMAN	0			2	180_181	-	T	T	Acute lymphoblastic leukemia(192;7.65e-05)		Frame_Shift_Ins	42			Nuclear localization signal (Potential).			
SPANXN2	494119	broad.mit.edu	GRCh37	X	142795381	142795381	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370498.1:c.297C>T	p.Asp99=	p.D99=	ENST00000370498	NM_001009615.1	99	gaC/gaT	0		A:0	1	A:0		A	D	uc004fbz.2	protein_coding	YES	CCDS35419.1			297/543									ovary(1)	1	c.(295-297)GAC>GAT			Low_complexity_(Seg):seg,hmmpanther:PTHR23425:SF5,hmmpanther:PTHR23425	SPANX-N2 protein		A:0.001		ENSP00000359529	A:0	2-Feb									rs200898233	2-Feb	.		ENST00000370498	Transcript		A:0.0003				ENSG00000203924	g.chrX:142795381G>A	33175			LOW								--	--	1																																				1			p.D99D	NM_001009615	NP_001009615	A:0			SPXN2_HUMAN	SPANXN2	HGNC	Q5MJ10	SPXN2_HUMAN					2	1051	-	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000049D98C	99					SNV	SPANXN2,synonymous_variant,p.=,ENST00000370498,NM_001009615.1;	uc004fbz.2	c.297C>T	1051/1377	2	2			c.297C>T						23	SNP	c.(295-297)GAC>GAT	32	32			ovary(1)	1	Broad	SPANX-N2 protein			142795381		0.527	ENSG00000203924	14762	g.chrX:142795381G>A										-101.212682	KEEP	27	21	-1	462	367	27	21	-1	44.432783	462	367	0.038035	1	0	0	0	0	0	0	1	0	--	--		0	A				18	GBM-06-0137-TP	p.D99D	G	CCAGGTCTTCGTCCTCCTGTG	NM_001009615	NP_001009615	142795381	Q5MJ10	SPXN2_HUMAN	0			2	1051	-	A	A	Acute lymphoblastic leukemia(192;6.56e-05)		Silent	99						
SPANXN2	494119	broad.mit.edu	GRCh37	X	142795437	142795437	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01	TCGA-06-0155-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370498.1:c.241G>A	p.Val81Ile	p.V81I	ENST00000370498	NM_001009615.1	81	Gtc/Atc	0			1			T	V/I	uc004fbz.2	protein_coding	YES	CCDS35419.1			241/543									ovary(1)	1	c.(241-243)GTC>ATC			hmmpanther:PTHR23425:SF5,hmmpanther:PTHR23425,Pfam_domain:PF07458	SPANX-N2 protein				ENSP00000359529		2-Feb	6.59E-05			0.000151	0.000221	8.33E-05			rs782507654,COSM2150023,COSM2150022	2-Feb	.		ENST00000370498	Transcript						ENSG00000203924	g.chrX:142795437C>T	33175			MODERATE		-0.63	neutral	getma.org/?cm=msa&ty=f&p=SPXN2_HUMAN&rb=1&re=100&var=V81I	NA	getma.org/?cm=var&var=hg19,X,142795437,C,T&fts=all	V81I	--	--	1																																			0,1,1	1		benign(0.1)	p.V81I	NM_001009615	NP_001009615		tolerated(0.85)	0,1,1	SPXN2_HUMAN	SPANXN2	HGNC	Q5MJ10	SPXN2_HUMAN					2	995	-	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000049D98C	81					SNV	SPANXN2,missense_variant,p.Val81Ile,ENST00000370498,NM_001009615.1;	uc004fbz.2	c.241G>A	995/1377	1	1			c.241G>A						23	SNP	c.(241-243)GTC>ATC	1	1			ovary(1)	1	Broad	SPANX-N2 protein			142795437		0.453	ENSG00000203924	14762	g.chrX:142795437C>T										957.211267	KEEP	166	159	-1	33	51	166	159	-1	985.7668	33	51	0.792244	1	0	0	0	0	1	0	0	0	--	--		0	T				27	GBM-06-0155-TP	p.V81I	C	TCCTCTTGGACGGGATTGATG	NM_001009615	NP_001009615	142795437	Q5MJ10	SPXN2_HUMAN	0			2	995	-	T	T	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	81						
SPANXN3	139067	broad.mit.edu	GRCh37	X	142596854	142596854	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370503.2:c.216G>A	p.Gln72=	p.Q72=	ENST00000370503	NM_001009609.2	72	caG/caA	0			1			T	Q	uc004fbw.2	protein_coding	YES	CCDS35418.1			216/426									ovary(2)	2	c.(214-216)CAG>CAA			Pfam_domain:PF07458,hmmpanther:PTHR23425,hmmpanther:PTHR23425:SF6	SPANX-N3 protein				ENSP00000359534		2-Feb									COSM2151502	2-Feb	.		ENST00000370503	Transcript						ENSG00000189252	g.chrX:142596854C>T	33176			LOW								--	--	1																																			1	1			p.Q72Q	NM_001009609	NP_001009609			1	SPXN3_HUMAN	SPANXN3	HGNC	Q5MJ09	SPXN3_HUMAN					2	304	-	Acute lymphoblastic leukemia(192;6.56e-05)		UPI000016004A	72					SNV	SPANXN3,synonymous_variant,p.=,ENST00000370503,NM_001009609.2;GS1-256O22.5,intron_variant,,ENST00000431432,;	uc004fbw.2	c.216G>A	300/590	2	2			c.216G>A						23	SNP	c.(214-216)CAG>CAA	37	37			ovary(2)	2	Broad	SPANX-N3 protein			142596854		0.388	ENSG00000189252	14763	g.chrX:142596854C>T										171.360956	KEEP	40	37	-1	128	70	40	37	-1	182.080006	128	70	0.283465	1	0	0	0	0	0	0	1	0	--	--		0	T				62	GBM-06-0649-TP	p.Q72Q	C	TCTCTTGGGACTGTTCATTCT	NM_001009609	NP_001009609	142596854	Q5MJ09	SPXN3_HUMAN	0			2	304	-	T	T	Acute lymphoblastic leukemia(192;6.56e-05)		Silent	72						
SPANXN4	0	broad.mit.edu	GRCh37	X	142121936	142121936	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-4097-01	TCGA-41-4097-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000446864.1:c.204G>A	p.Glu68=	p.E68=	ENST00000446864	NM_001009613.2	68	gaG/gaA	0			1			A	E	uc004fbv.3	protein_coding	YES	CCDS48178.1			204/300									ovary(1)	1	c.(202-204)GAG>GAA			hmmpanther:PTHR23425:SF2,hmmpanther:PTHR23425,Pfam_domain:PF07458	SPANX family, member N4				ENSP00000405210		2-Feb									COSM3406041	2-Feb	.		ENST00000446864	Transcript						ENSG00000189326	g.chrX:142121936G>A	33177			LOW								--	--	1																																			1	1			p.E68E	NM_001009613	NP_001009613			1	SPXN4_HUMAN	SPANXN4	HGNC	Q5MJ08	SPXN4_HUMAN					2	301	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI0000367782	68					SNV	SPANXN4,synonymous_variant,p.=,ENST00000370504,;SPANXN4,synonymous_variant,p.=,ENST00000446864,NM_001009613.2;	uc004fbv.3	c.204G>A	301/431	2	2			c.204G>A						23	SNP	c.(202-204)GAG>GAA	17	17			ovary(1)	1	Broad	SPANX family, member N4			142121936		0.413	ENSG00000189326	14764	g.chrX:142121936G>A										5.942027	KEEP	2	0	-1	3	7	2	0	-1	7.20623	3	7	0.166667	1	0	0	0	0	0	0	1	0	--	--		0	A				257	GBM-41-4097-TP	p.E68E	G	ATCAACTGGAGAATAACCAGC	NM_001009613	NP_001009613	142121936	Q5MJ08	SPXN4_HUMAN	0			2	301	+	A	A	Acute lymphoblastic leukemia(192;6.56e-05)		Silent	68						
SPARCL1	0	broad.mit.edu	GRCh37	4	88415064	88415064	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-32-1980-01	TCGA-32-1980-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282470.6:c.888A>G	p.Gln296=	p.Q296=	ENST00000282470	NM_004684.4	296	caA/caG	0			1			C	Q	uc010ikm.2	protein_coding		CCDS3622.1			888/1995									ovary(1)	1	c.(886-888)CAA>CAG			PIRSF_domain:PIRSF002574,hmmpanther:PTHR13866,hmmpanther:PTHR13866:SF16	SPARC-like 1 precursor				ENSP00000282470		11-Apr									COSM3409603	11-Apr	.		ENST00000282470	Transcript			signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	ENSG00000152583	g.chr4:88415064T>C	11220			LOW								--	--	1																																		SPARCL1_uc011cdc.1_Silent_p.Q171Q|SPARCL1_uc003hqs.3_Silent_p.Q296Q|SPARCL1_uc011cdd.1_Silent_p.Q171Q|SPARCL1_uc003hqt.2_Silent_p.Q296Q	1				p.Q296Q	NM_001128310	NP_001121782			1	SPRL1_HUMAN	SPARCL1	HGNC	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	F5H4Y3_HUMAN,F5H331_HUMAN,E9PC64_HUMAN,E7EU82_HUMAN,D6RA29_HUMAN,C9JJR8_HUMAN,B4E2Z0_HUMAN		5	1460	-			UPI000013DCE3	296					SNV	SPARCL1,synonymous_variant,p.=,ENST00000418378,NM_001128310.1;SPARCL1,synonymous_variant,p.=,ENST00000282470,NM_004684.4;SPARCL1,synonymous_variant,p.=,ENST00000503414,;SPARCL1,downstream_gene_variant,,ENST00000434434,;SPARCL1,downstream_gene_variant,,ENST00000541496,;SPARCL1,downstream_gene_variant,,ENST00000512317,;SPARCL1,downstream_gene_variant,,ENST00000509407,;SPARCL1,downstream_gene_variant,,ENST00000543631,;SPARCL1,downstream_gene_variant,,ENST00000458304,;SPARCL1,downstream_gene_variant,,ENST00000535835,;	uc010ikm.2	c.888A>G	1359/2906	3	3			c.888A>G						4	SNP	c.(886-888)CAA>CAG	54	54			ovary(1)	1	Broad	SPARC-like 1 precursor			88415064		0.418	ENSG00000152583	14767	g.chr4:88415064T>C	signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding							-36.38656	KEEP	5	1	-1	97	119	5	1	-1	13.502324	97	119	0.029268	1	0	0	0	0	0	0	1	0	--	--		0	C			SPARCL1_uc011cdc.1_Silent_p.Q171Q|SPARCL1_uc003hqs.3_Silent_p.Q296Q|SPARCL1_uc011cdd.1_Silent_p.Q171Q|SPARCL1_uc003hqt.2_Silent_p.Q296Q	231	GBM-32-1980-TP	p.Q296Q	T	TTTTACCCTCTTGACTCTGCC	NM_001128310	NP_001121782	88415064	Q14515	SPRL1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	5	1460	-	C	C			Silent	296						
SPARCL1	8404		GRCh37	4	88414795	88414795	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000418378.1:c.1157A>G	p.Gln386Arg	p.Q386R	ENST00000418378	NM_001128310.1	386	cAa/cGa	0																																																																																																																																																																																																																																												
SPAST	6683		GRCh37	2	32366971	32366971	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000315285.3:c.1494-2A>T		p.X498_splice	ENST00000315285	NM_014946.3	498		0																																																																																																																																																																																																																																												
SPATA16	0	broad.mit.edu	GRCh37	3	172835032	172835032	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01	TCGA-32-4208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000351008.3:c.490C>G	p.His164Asp	p.H164D	ENST00000351008	NM_031955.5	164	Cat/Gat	0			1			C	H/D	uc003fin.3	protein_coding	YES	CCDS3221.1			490/1710									ovary(2)|skin(1)	3	c.(490-492)CAT>GAT			hmmpanther:PTHR22904:SF283,hmmpanther:PTHR22904,Pfam_domain:PF15015	spermatogenesis associated 16				ENSP00000341765		11-Feb									COSM3408442	11-Feb	.		ENST00000351008	Transcript	1		cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	ENSG00000144962	g.chr3:172835032G>C	29935			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=SPT16_HUMAN&rb=1&re=566&var=H164D	NA	getma.org/?cm=var&var=hg19,3,172835032,G,C&fts=all	H164D	--	--	1																																			1	1		benign(0)	p.H164D	NM_031955	NP_114161		deleterious(0.01)	1	SPT16_HUMAN	SPATA16	HGNC	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)				2	648	-	Ovarian(172;0.00319)|Breast(254;0.197)		UPI000013D9BF	164					SNV	SPATA16,missense_variant,p.His164Asp,ENST00000351008,NM_031955.5;	uc003fin.3	c.490C>G	674/2106	3	3			c.490C>G						3	SNP	c.(490-492)CAT>GAT	16	16			ovary(2)|skin(1)	3	Broad	spermatogenesis associated 16			172835032		0.448	ENSG00000144962	14772	g.chr3:172835032G>C	cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding							-11.635462	KEEP	7	10	-1	129	142	7	10	-1	42.453033	129	142	0.059925	1	0	0	0	0	1	0	0	0	--	--		0	C				243	GBM-32-4208-TP	p.H164D	G	CTGAAATTATGTACACTCAAA	NM_031955	NP_114161	172835032	Q9BXB7	SPT16_HUMAN	0	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		2	648	-	C	C	Ovarian(172;0.00319)|Breast(254;0.197)		Missense_Mutation	164						
SPATA17	0	broad.mit.edu	GRCh37	1	217824518	217824518	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-4927-01	TCGA-76-4927-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366933.4:c.238C>A	p.Gln80Lys	p.Q80K	ENST00000366933	NM_138796.2	80	Cag/Aag	0			1			A	Q/K	uc001hlh.1	protein_coding	YES	CCDS1519.1			238/1086									pancreas(1)	1	c.(238-240)CAG>AAG			Superfamily_domains:SSF52540,hmmpanther:PTHR22706,PROSITE_profiles:PS50096	spermatogenesis associated 17				ENSP00000355900		11-Mar									COSM3400333	11-Mar	.		ENST00000366933	Transcript				cytoplasm	calmodulin binding	ENSG00000162814	g.chr1:217824518C>A	25184			MODERATE		-1.975	neutral	getma.org/?cm=msa&ty=f&p=SPT17_HUMAN&rb=55&re=84&var=Q80K	NA	getma.org/?cm=var&var=hg19,1,217824518,C,A&fts=all	Q80K	--	--	1																																		SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Missense_Mutation_p.Q80K	1	1		benign(0)	p.Q80K	NM_138796	NP_620151		tolerated(1)	1	SPT17_HUMAN	SPATA17	HGNC	Q96L03	SPT17_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)	R4GN71_HUMAN		3	264	+			UPI00000717C2	80			IQ 2.		SNV	SPATA17,missense_variant,p.Gln80Lys,ENST00000366933,NM_138796.2;SPATA17,missense_variant,p.Gln80Lys,ENST00000470448,;	uc001hlh.1	c.238C>A	293/5818	1	1			c.238C>A						1	SNP	c.(238-240)CAG>AAG	58	58			pancreas(1)	1	Broad	spermatogenesis associated 17			217824518		0.289	ENSG00000162814	14773	g.chr1:217824518C>A		cytoplasm	calmodulin binding							110.680839	KEEP	27	24	0.470588235	55	93	27	24	0.470588235	120.390047	55	93	0.254237	1	0	0	0	0	1	0	0	0	--	--		0	A			SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Missense_Mutation_p.Q80K	267	GBM-76-4927-TP	p.Q80K	C	ACTAACTGTGCAGGTAAATAT	NM_138796	NP_620151	217824518	Q96L03	SPT17_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)	3	264	+	A	A			Missense_Mutation	80			IQ 2.			
SPATA19	219938	broad.mit.edu	GRCh37	11	133714446	133714446	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299140.3:c.225C>T	p.Ser75=	p.S75=	ENST00000299140	NM_174927.1	75	tcC/tcT	0			1			A	S	uc001qgv.1	protein_coding	YES	CCDS8493.1			225/504										0	c.(223-225)TCC>TCT			Pfam_domain:PF15212	spermatogenesis associated 19 precursor				ENSP00000299140		7-Mar									COSM3397572	7-Mar	.		ENST00000299140	Transcript			cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane		ENSG00000166118	g.chr11:133714446G>A	30614			LOW								--	--	1																																			1	1			p.S75S	NM_174927	NP_777587			1	SPT19_HUMAN	SPATA19	HGNC	Q7Z5L4	SPT19_HUMAN		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)			3	276	-	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)	UPI000007021D	75					SNV	SPATA19,synonymous_variant,p.=,ENST00000299140,NM_174927.1;SPATA19,synonymous_variant,p.=,ENST00000532889,;	uc001qgv.1	c.225C>T	280/861	1	1			c.225C>T						11	SNP	c.(223-225)TCC>TCT	49	49				0	Broad	spermatogenesis associated 19 precursor			133714446		0.552	ENSG00000166118	14775	g.chr11:133714446G>A	cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane								-19.849172	KEEP	5	3	-1	82	86	5	3	-1	12.640368	82	86	0.041667	1	0	0	0	0	0	0	1	0	--	--		0	A				39	GBM-06-0184-TP	p.S75S	G	GGGTGGGAGGGGAGTCAGTGG	NM_174927	NP_777587	133714446	Q7Z5L4	SPT19_HUMAN	0		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)	3	276	-	A	A	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)	Silent	75						
SPATA19	219938	broad.mit.edu	GRCh37	11	133711992	133711992	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140608295		TCGA-06-0192-01	TCGA-06-0192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299140.3:c.446G>A	p.Arg149His	p.R149H	ENST00000299140	NM_174927.1	149	cGt/cAt	0	T:0.0005	T:0.0008	1	T:0		T	R/H	uc001qgv.1	protein_coding	YES	CCDS8493.1			446/504										0	c.(445-447)CGT>CAT			Pfam_domain:PF15212	spermatogenesis associated 19 precursor		T:0	T:0	ENSP00000299140	T:0	7-Jun	9.06E-05	0.000865				1.50E-05		6.06E-05	rs140608295,COSM3397571	7-Jun	common_variant		ENST00000299140	Transcript		T:0.0002	cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane		ENSG00000166118	g.chr11:133711992C>T	30614			MODERATE		-0.805	neutral	getma.org/?cm=msa&ty=f&p=SPT19_HUMAN&rb=1&re=166&var=R149H	NA	getma.org/?cm=var&var=hg19,11,133711992,C,T&fts=all	R149H	--	--	1																																			0,1	1		benign(0)	p.R149H	NM_174927	NP_777587	T:0	tolerated(1)	0,1	SPT19_HUMAN	SPATA19	HGNC	Q7Z5L4	SPT19_HUMAN		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)			6	497	-	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)	UPI000007021D	149					SNV	SPATA19,missense_variant,p.Arg149His,ENST00000299140,NM_174927.1;SPATA19,missense_variant,p.Arg149His,ENST00000532889,;	uc001qgv.1	c.446G>A	501/861	2	2			c.446G>A						11	SNP	c.(445-447)CGT>CAT	32	32				0	Broad	spermatogenesis associated 19 precursor			133711992		0.602	ENSG00000166118	14775	g.chr11:133711992C>T	cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane								7.506052	KEEP	11	5	-1	75	84	11	5	-1	34.563362	75	84	0.092593	1	0	0	0	0	1	0	0	0	--	--		0	T				44	GBM-06-0192-TP	p.R149H	C	ATCTGTAAGACGGGATATGCT	NM_174927	NP_777587	133711992	Q7Z5L4	SPT19_HUMAN	0		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)	6	497	-	T	T	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)	Missense_Mutation	149						
SPATA20	64847	broad.mit.edu	GRCh37	17	48626428	48626428	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01	TCGA-06-2570-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000006658.6:c.541C>T	p.Pro181Ser	p.P181S	ENST00000006658	NM_022827.3	181	Ccc/Tcc	0			1			T	P/S	uc002irf.2	protein_coding		CCDS58563.1			493/2361										0	c.(493-495)CCC>TCC			hmmpanther:PTHR12145:SF11,hmmpanther:PTHR12145,Pfam_domain:PF03190,Gene3D:3.40.30.10,PIRSF_domain:PIRSF006402,Superfamily_domains:SSF52833	spermatogenesis associated 20				ENSP00000348878		16-May									COSM3402997	16-May	.		ENST00000356488	Transcript			cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding	ENSG00000006282	g.chr17:48626428C>T	26125			MODERATE		4.54	high	getma.org/?cm=msa&ty=f&p=SPT20_HUMAN&rb=62&re=224&var=P165S	getma.org/pdb.php?prot=SPT20_HUMAN&from=62&to=224&var=P165S	getma.org/?cm=var&var=hg19,17,48626428,C,T&fts=all	P165S	--	--	1																																		SPATA20_uc002irc.2_5'UTR|SPATA20_uc002ire.2_Missense_Mutation_p.P121S|SPATA20_uc002ird.2_Missense_Mutation_p.P181S|SPATA20_uc010wmv.1_Missense_Mutation_p.P191S|SPATA20_uc002irg.2_RNA	1			probably_damaging(0.994)	p.P165S	NM_022827	NP_073738		deleterious(0)	1	SPT20_HUMAN	SPATA20	HGNC	Q8TB22	SPT20_HUMAN	BRCA - Breast invasive adenocarcinoma(22;9.38e-09)				5	634	+	Breast(11;1.23e-18)		UPI000013F302	165					SNV	SPATA20,missense_variant,p.Pro181Ser,ENST00000006658,NM_022827.3;SPATA20,missense_variant,p.Pro121Ser,ENST00000393244,NM_001258373.1;SPATA20,missense_variant,p.Pro165Ser,ENST00000356488,NM_001258372.1;SPATA20,non_coding_transcript_exon_variant,,ENST00000511937,;SPATA20,missense_variant,p.Pro48Ser,ENST00000511347,;SPATA20,3_prime_UTR_variant,,ENST00000504334,;SPATA20,3_prime_UTR_variant,,ENST00000503127,;SPATA20,3_prime_UTR_variant,,ENST00000505559,;SPATA20,3_prime_UTR_variant,,ENST00000502911,;SPATA20,3_prime_UTR_variant,,ENST00000505456,;SPATA20,non_coding_transcript_exon_variant,,ENST00000503063,;SPATA20,non_coding_transcript_exon_variant,,ENST00000512181,;SPATA20,non_coding_transcript_exon_variant,,ENST00000505656,;SPATA20,non_coding_transcript_exon_variant,,ENST00000512416,;SPATA20,upstream_gene_variant,,ENST00000504265,;SPATA20,upstream_gene_variant,,ENST00000515619,;SPATA20,upstream_gene_variant,,ENST00000504271,;SPATA20,upstream_gene_variant,,ENST00000513618,;SPATA20,downstream_gene_variant,,ENST00000505085,;SPATA20,downstream_gene_variant,,ENST00000508598,;SPATA20,downstream_gene_variant,,ENST00000511605,;SPATA20,downstream_gene_variant,,ENST00000511845,;SPATA20,downstream_gene_variant,,ENST00000505336,;SPATA20,upstream_gene_variant,,ENST00000508528,;SPATA20,downstream_gene_variant,,ENST00000515526,;SPATA20,downstream_gene_variant,,ENST00000510917,;	uc002irf.2	c.493C>T	576/2634	2	2			c.493C>T						17	SNP	c.(493-495)CCC>TCC	47	47				0	Broad	spermatogenesis associated 20			48626428		0.657	ENSG00000006282	14777	g.chr17:48626428C>T	cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding							-2.69091	KEEP	0	3	-1	27	33	0	3	-1	6.861506	27	33	0.0625	1	0	0	0	0	1	0	0	0	--	--		0	T			SPATA20_uc002irc.2_5'UTR|SPATA20_uc002ire.2_Missense_Mutation_p.P121S|SPATA20_uc002ird.2_Missense_Mutation_p.P181S|SPATA20_uc010wmv.1_Missense_Mutation_p.P191S|SPATA20_uc002irg.2_RNA	91	GBM-06-2570-TP	p.P165S	C	CGGGGGCTGGCCCATGAATGT	NM_022827	NP_073738	48626428	Q8TB22	SPT20_HUMAN	0	BRCA - Breast invasive adenocarcinoma(22;9.38e-09)		5	634	+	T	T	Breast(11;1.23e-18)		Missense_Mutation	165						
SPATA22	84690	broad.mit.edu	GRCh37	17	3366028	3366028	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01	TCGA-02-0003-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000573128.1:c.206C>T	p.Ala69Val	p.A69V	ENST00000573128		69	gCt/gTt	0			1			A	A/V	uc002fvm.2	protein_coding		CCDS11027.1			206/1092										0	c.(205-207)GCT>GTT				spermatogenesis associated 22				ENSP00000380354		9-Apr									COSM2148888	9-Apr	.		ENST00000397168	Transcript						ENSG00000141255	g.chr17:3366028G>A	30705			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=SPT22_HUMAN&rb=1&re=100&var=A69V	NA	getma.org/?cm=var&var=hg19,17,3366028,G,A&fts=all	A69V	--	--	1																																		SPATA22_uc010vrg.1_Missense_Mutation_p.A53V|SPATA22_uc010vrf.1_Missense_Mutation_p.A69V|SPATA22_uc002fvn.2_Missense_Mutation_p.A69V|SPATA22_uc002fvo.2_Missense_Mutation_p.A69V|SPATA22_uc002fvp.2_Missense_Mutation_p.A69V|SPATA22_uc010ckf.2_Missense_Mutation_p.A26V	1			benign(0.392)	p.A69V	NM_032598	NP_115987		tolerated(0.13)	1	SPT22_HUMAN	SPATA22	HGNC	Q8NHS9	SPT22_HUMAN			I3L517_HUMAN,I3L4D7_HUMAN,I3L2B9_HUMAN,I3L1L5_HUMAN		4	443	-			UPI0000140D16	69					SNV	SPATA22,missense_variant,p.Ala69Val,ENST00000573128,;SPATA22,missense_variant,p.Ala53Val,ENST00000541913,;SPATA22,missense_variant,p.Ala69Val,ENST00000397168,NM_032598.4;SPATA22,missense_variant,p.Ala69Val,ENST00000572969,NM_001170698.1;SPATA22,missense_variant,p.Ala69Val,ENST00000575375,NM_001170697.1,NM_001170695.1;SPATA22,missense_variant,p.Ala69Val,ENST00000268981,NM_001170699.1;SPATA22,missense_variant,p.Ala26Val,ENST00000355380,NM_001170696.1;SPATA22,missense_variant,p.Ala69Val,ENST00000572582,;SPATA22,missense_variant,p.Ala56Val,ENST00000574051,;SPATA22,5_prime_UTR_variant,,ENST00000571553,;SPATA22,5_prime_UTR_variant,,ENST00000571607,;SPATA22,5_prime_UTR_variant,,ENST00000574797,;SPATA22,downstream_gene_variant,,ENST00000574457,;	uc002fvm.2	c.206C>T	443/1457	1	1			c.206C>T						17	SNP	c.(205-207)GCT>GTT	63	63				0	Broad	spermatogenesis associated 22			3366028		0.348	ENSG00000141255	14779	g.chr17:3366028G>A										172.53616	KEEP	31	40	-1	58	70	31	40	-1	175.7415	58	70	0.357542	1	0	0	0	0	1	0	0	0	--	--		0	A			SPATA22_uc010vrg.1_Missense_Mutation_p.A53V|SPATA22_uc010vrf.1_Missense_Mutation_p.A69V|SPATA22_uc002fvn.2_Missense_Mutation_p.A69V|SPATA22_uc002fvo.2_Missense_Mutation_p.A69V|SPATA22_uc002fvp.2_Missense_Mutation_p.A69V|SPATA22_uc010ckf.2_Missense_Mutation_p.A26V	1	GBM-02-0003-TP	p.A69V	G	CATTACAGGAGCCAACTCTGG	NM_032598	NP_115987	3366028	Q8NHS9	SPT22_HUMAN	0			4	443	-	A	A			Missense_Mutation	69						
SPATA31A3	0	broad.mit.edu	GRCh37	9	40702725	40702725	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0688-01	TCGA-12-0688-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356699.5:c.382G>A	p.Glu128Lys	p.E128K	ENST00000356699	NM_001083124.1	128	Gaa/Aaa	0		A:0	1	A:0.0014		A	E/K	uc010mmj.2	protein_coding	YES	CCDS47969.1			382/4044									ovary(2)|skin(1)	3	c.(382-384)GAA>AAA			hmmpanther:PTHR21859:SF9,hmmpanther:PTHR21859,Pfam_domain:PF15371	hypothetical protein LOC727830		A:0		ENSP00000349132	A:0	4-Apr									rs554911040,COSM1176986,COSM1176987	4-Apr	.		ENST00000356699	Transcript		A:0.0002		integral to membrane		ENSG00000147926	g.chr9:40702725G>A	32003			MODERATE		-1.56	neutral	getma.org/?cm=msa&ty=f&p=F75A3_HUMAN&rb=1&re=1345&var=E128K	NA	getma.org/?cm=var&var=hg19,9,40702725,G,A&fts=all	E128K	--	--	1																																			0,1,1	1		benign(0)	p.E128K	NM_001083124	NP_001076593	A:0	tolerated(1)	0,1,1	S31A3_HUMAN	SPATA31A3	HGNC	Q5VYP0	F75A3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)			4	411	+			UPI00004588FC	128			Pro-rich.		SNV	SPATA31A3,missense_variant,p.Glu128Lys,ENST00000356699,NM_001083124.1;RP11-395E19.5,downstream_gene_variant,,ENST00000432614,;SPATA31A3,non_coding_transcript_exon_variant,,ENST00000463536,;	uc010mmj.2	c.382G>A	411/4223	1	1			c.382G>A						9	SNP	c.(382-384)GAA>AAA	61	61			ovary(2)|skin(1)	3	Broad	hypothetical protein LOC727830			40702725		0.602	ENSG00000147926	5522	g.chr9:40702725G>A		integral to membrane								119.298465	KEEP	28	33	-1	60	77	28	33	-1	120.015303	60	77	0.408163	1	0	0	0	0	1	0	0	0	--	--		0	A				121	GBM-12-0688-TP	p.E128K	G	TGAGGTGGGCGAAAGAGCACC	NM_001083124	NP_001076593	40702725	Q5VYP0	F75A3_HUMAN	0		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	4	411	+	A	A			Missense_Mutation	128			Pro-rich.			
SPATA31C1	441452		GRCh37	9	90536630	90536630	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000420021.2:n.2105G>A		p.*702*	ENST00000420021				0																																																																																																																																																																																																																																												
SPATA31C2	645961		GRCh37	9	90745328	90745328	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000324915.5:n.2822C>T		p.*941*	ENST00000324915				0																																																																																																																																																																																																																																												
SPATA31D1	389763	broad.mit.edu	GRCh37	9	84607173	84607173	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0130-01	TCGA-06-0130-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344803.2:c.1788A>G	p.Leu596=	p.L596=	ENST00000344803	NM_001001670.2	596	ctA/ctG	0			1			G	L	uc004amn.2	protein_coding	YES	CCDS47986.1			1788/4731										0	c.(1786-1788)CTA>CTG			hmmpanther:PTHR21859:SF12,hmmpanther:PTHR21859,Pfam_domain:PF14650	hypothetical protein LOC389763				ENSP00000341988		4-Apr									COSM3413765,COSM3413764	4-Apr	.		ENST00000344803	Transcript				integral to membrane		ENSG00000214929	g.chr9:84607173A>G	37283			LOW								--	--	1																																			1,1	1			p.L596L	NM_001001670	NP_001001670			1,1	S31D1_HUMAN	SPATA31D1	HGNC	Q6ZQQ2	F75D1_HUMAN					4	1835	+			UPI00001C10A6	596					SNV	SPATA31D1,synonymous_variant,p.=,ENST00000344803,NM_001001670.2;SPATA31D1,downstream_gene_variant,,ENST00000603921,;	uc004amn.2	c.1788A>G	1835/4833	3	3			c.1788A>G						9	SNP	c.(1786-1788)CTA>CTG	54	54				0	Broad	hypothetical protein LOC389763			84607173		0.512	ENSG00000214929	5829	g.chr9:84607173A>G		integral to membrane								73.145543	KEEP	7	21	-1	60	59	7	21	-1	85.888098	60	59	0.190141	1	0	0	0	0	0	0	1	0	--	--		0	G				16	GBM-06-0130-TP	p.L596L	A	CTAGTCCTCTATTCCTGATTA	NM_001001670	NP_001001670	84607173	Q6ZQQ2	F75D1_HUMAN	0			4	1835	+	G	G			Silent	596						
SPATA31D1	389763	broad.mit.edu	GRCh37	9	84605747	84605747	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0238-01	TCGA-06-0238-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344803.2:c.362G>A	p.Arg121His	p.R121H	ENST00000344803	NM_001001670.2	121	cGt/cAt	0			1			A	R/H	uc004amn.2	protein_coding	YES	CCDS47986.1			362/4731						not_provided				0	c.(361-363)CGT>CAT			hmmpanther:PTHR21859:SF12,hmmpanther:PTHR21859,Pfam_domain:PF15371	hypothetical protein LOC389763				ENSP00000341988		4-Apr	1.65E-05	0.00011				1.58E-05			rs267602287,COSM2151089,COSM2151088	4-Apr	.		ENST00000344803	Transcript				integral to membrane		ENSG00000214929	g.chr9:84605747G>A	37283			MODERATE		-0.13	neutral	getma.org/?cm=msa&ty=f&p=F75D1_HUMAN&rb=1&re=339&var=R121H	NA	getma.org/?cm=var&var=hg19,9,84605747,G,A&fts=all	R121H	--	--	1																																			1,1,1	1		benign(0.348)	p.R121H	NM_001001670	NP_001001670		tolerated(0.06)	0,1,1	S31D1_HUMAN	SPATA31D1	HGNC	Q6ZQQ2	F75D1_HUMAN					4	409	+			UPI00001C10A6	121					SNV	SPATA31D1,missense_variant,p.Arg121His,ENST00000344803,NM_001001670.2;SPATA31D1,downstream_gene_variant,,ENST00000603921,;	uc004amn.2	c.362G>A	409/4833	2	2			c.362G>A						9	SNP	c.(361-363)CGT>CAT	24	24				0	Broad	hypothetical protein LOC389763			84605747		0.537	ENSG00000214929	5829	g.chr9:84605747G>A		integral to membrane								43.113879	KEEP	8	8	-1	13	18	8	8	-1	43.662942	13	18	0.375	1	0	0	0	0	1	0	0	0	--	--		0	A				55	GBM-06-0238-TP	p.R121H	G	AACCACTTTCGTCGACTGTTA	NM_001001670	NP_001001670	84605747	Q6ZQQ2	F75D1_HUMAN	0			4	409	+	A	A			Missense_Mutation	121						
SPATA31D1	389763	broad.mit.edu	GRCh37	9	84609494	84609494	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-1804-01	TCGA-06-1804-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344803.2:c.4109A>G	p.Glu1370Gly	p.E1370G	ENST00000344803	NM_001001670.2	1370	gAa/gGa	0			1			G	E/G	uc004amn.2	protein_coding	YES	CCDS47986.1			4109/4731										0	c.(4108-4110)GAA>GGA			hmmpanther:PTHR21859:SF12,hmmpanther:PTHR21859	hypothetical protein LOC389763				ENSP00000341988		4-Apr									COSM3413769,COSM3413768	4-Apr	.		ENST00000344803	Transcript				integral to membrane		ENSG00000214929	g.chr9:84609494A>G	37283			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=F75D1_HUMAN&rb=981&re=1575&var=E1370G	NA	getma.org/?cm=var&var=hg19,9,84609494,A,G&fts=all	E1370G	--	--	1																																			1,1	1		benign(0.002)	p.E1370G	NM_001001670	NP_001001670		tolerated(0.3)	1,1	S31D1_HUMAN	SPATA31D1	HGNC	Q6ZQQ2	F75D1_HUMAN					4	4156	+			UPI00001C10A6	1370					SNV	SPATA31D1,missense_variant,p.Glu1370Gly,ENST00000344803,NM_001001670.2;SPATA31D1,downstream_gene_variant,,ENST00000603921,;	uc004amn.2	c.4109A>G	4156/4833	3	3			c.4109A>G						9	SNP	c.(4108-4110)GAA>GGA	14	14				0	Broad	hypothetical protein LOC389763			84609494		0.433	ENSG00000214929	5829	g.chr9:84609494A>G		integral to membrane								47.039819	KEEP	6	8	-1	8	20	6	8	-1	47.833082	8	20	0.35	1	0	0	0	0	1	0	0	0	--	--		0	G				79	GBM-06-1804-TP	p.E1370G	A	TCATATGAAGAACAAGAAAGT	NM_001001670	NP_001001670	84609494	Q6ZQQ2	F75D1_HUMAN	0			4	4156	+	G	G			Missense_Mutation	1370						
SPATA31D1	389763		GRCh37	9	84609194	84609194	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0151-01	TCGA-06-0151-01																				ENST00000344803.2:c.3809A>G	p.Gln1270Arg	p.Q1270R	ENST00000344803	NM_001001670.2	1270	cAg/cGg	0																																																																																																																																																																																																																																												
SPATA31E1	0	broad.mit.edu	GRCh37	9	90499950	90499950	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-26-1442-01	TCGA-26-1442-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325643.5:c.548A>G	p.Asp183Gly	p.D183G	ENST00000325643	NM_178828.4	183	gAt/gGt	0			1			G	D/G	uc004app.3	protein_coding	YES	CCDS6676.1			548/4338									ovary(3)	3	c.(547-549)GAT>GGT			Pfam_domain:PF15371,hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF11	chromosome 9 open reading frame 79				ENSP00000322640		4-Apr									COSM3413799	4-Apr	.		ENST00000325643	Transcript				integral to membrane		ENSG00000177992	g.chr9:90499950A>G	26672			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=F75E1_HUMAN&rb=1&re=200&var=D183G	NA	getma.org/?cm=var&var=hg19,9,90499950,A,G&fts=all	D183G	--	--	1																																		C9orf79_uc004apo.1_Intron	1	1		possibly_damaging(0.549)	p.D183G	NM_178828	NP_849150		tolerated(0.05)	1	S31E1_HUMAN	SPATA31E1	HGNC	Q6ZUB1	CI079_HUMAN					4	583	+			UPI000036764A	183			Pro-rich.		SNV	SPATA31E1,missense_variant,p.Asp183Gly,ENST00000325643,NM_178828.4;	uc004app.3	c.548A>G	614/4478	3	3			c.548A>G						9	SNP	c.(547-549)GAT>GGT	11	11			ovary(3)	3	Broad	chromosome 9 open reading frame 79			90499950		0.627	ENSG00000177992	2448	g.chr9:90499950A>G		integral to membrane								17.455707	KEEP	8	9	-1	58	73	8	9	-1	37.865807	58	73	0.110294	1	0	0	0	0	1	0	0	0	--	--		0	G			C9orf79_uc004apo.1_Intron	180	GBM-26-1442-TP	p.D183G	A	TGCATGCAAGATCCGTCTCCT	NM_178828	NP_849150	90499950	Q6ZUB1	CI079_HUMAN	0			4	583	+	G	G			Missense_Mutation	183			Pro-rich.			
SPATA31E1	0	broad.mit.edu	GRCh37	9	90501883	90501883	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-76-4935-01	TCGA-76-4935-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325643.5:c.2481C>G	p.Leu827=	p.L827=	ENST00000325643	NM_178828.4	827	ctC/ctG	0			1			G	L	uc004app.3	protein_coding	YES	CCDS6676.1			2481/4338									ovary(3)	3	c.(2479-2481)CTC>CTG			hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF11	chromosome 9 open reading frame 79				ENSP00000322640		4-Apr									COSM3413800	4-Apr	.		ENST00000325643	Transcript				integral to membrane		ENSG00000177992	g.chr9:90501883C>G	26672			LOW								--	--	1																																		C9orf79_uc004apo.1_Silent_p.L639L	1	1			p.L827L	NM_178828	NP_849150			1	S31E1_HUMAN	SPATA31E1	HGNC	Q6ZUB1	CI079_HUMAN					4	2516	+			UPI000036764A	827					SNV	SPATA31E1,synonymous_variant,p.=,ENST00000325643,NM_178828.4;	uc004app.3	c.2481C>G	2547/4478	3	3			c.2481C>G						9	SNP	c.(2479-2481)CTC>CTG	59	59			ovary(3)	3	Broad	chromosome 9 open reading frame 79			90501883		0.562	ENSG00000177992	2448	g.chr9:90501883C>G		integral to membrane								-4.802216	KEEP	5	0	-1	36	51	5	0	-1	13.62585	36	51	0.05618	1	0	0	0	0	0	0	1	0	--	--		0	G			C9orf79_uc004apo.1_Silent_p.L639L	273	GBM-76-4935-TP	p.L827L	C	TTTCCTTCCTCCATCCCTGCA	NM_178828	NP_849150	90501883	Q6ZUB1	CI079_HUMAN	0			4	2516	+	G	G			Silent	827						
SPATA32	0	broad.mit.edu	GRCh37	17	43333267	43333267	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5208-01	TCGA-28-5208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331780.4:c.282C>T	p.Asn94=	p.N94=	ENST00000331780	NM_152343.2	94	aaC/aaT	0			1			A	N	uc002iis.1	protein_coding	YES	CCDS32669.1			282/1155									large_intestine(1)|ovary(1)	2	c.(280-282)AAC>AAT				hypothetical protein LOC124783				ENSP00000331532		5-Apr	6.59E-05	9.68E-05		0.000694		1.50E-05			rs756172658,COSM3402946	5-Apr	common_variant		ENST00000331780	Transcript						ENSG00000184361	g.chr17:43333267G>A	26349			LOW								--	--	1																																		LOC100133991_uc010dah.2_Intron|C17orf46_uc010wjk.1_Silent_p.N73N	0,1	1			p.N94N	NM_152343	NP_689556			0,1	SPT32_HUMAN	SPATA32	HGNC	Q96LK8	CQ046_HUMAN			K7EQM9_HUMAN,B7Z7K7_HUMAN		4	378	-			UPI000049DE53	94					SNV	SPATA32,synonymous_variant,p.=,ENST00000543122,;SPATA32,synonymous_variant,p.=,ENST00000331780,NM_152343.2;MAP3K14-AS1,intron_variant,,ENST00000590100,;MAP3K14-AS1,intron_variant,,ENST00000592422,;MAP3K14-AS1,intron_variant,,ENST00000588160,;MAP3K14-AS1,intron_variant,,ENST00000588504,;MAP3K14-AS1,intron_variant,,ENST00000585346,;MAP3K14-AS1,intron_variant,,ENST00000588698,;MAP3K14-AS1,intron_variant,,ENST00000591263,;SPATA32,3_prime_UTR_variant,,ENST00000586359,;SPATA32,3_prime_UTR_variant,,ENST00000588866,;	uc002iis.1	c.282C>T	378/1284	1	1			c.282C>T						17	SNP	c.(280-282)AAC>AAT	55	55			large_intestine(1)|ovary(1)	2	Broad	hypothetical protein LOC124783			43333267		0.542	ENSG00000184361	1816	g.chr17:43333267G>A										378.800993	KEEP	63	74	-1	104	83	63	74	-1	380.690262	104	83	0.416667	1	0	0	0	0	0	0	1	0	--	--		0	A			LOC100133991_uc010dah.2_Intron|C17orf46_uc010wjk.1_Silent_p.N73N	217	GBM-28-5208-TP	p.N94N	G	CAGACTCCTCGTTCGAGTTGG	NM_152343	NP_689556	43333267	Q96LK8	CQ046_HUMAN	0			4	378	-	A	A			Silent	94						
SPATA32	0	broad.mit.edu	GRCh37	17	43332647	43332647	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs144271763		TCGA-41-5651-01	TCGA-41-5651-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331780.4:c.902G>A	p.Arg301His	p.R301H	ENST00000331780	NM_152343.2	301	cGc/cAc	0	T:0.0002	T:0	1	T:0		T	R/H	uc002iis.1	protein_coding	YES	CCDS32669.1			902/1155									large_intestine(1)|ovary(1)	2	c.(901-903)CGC>CAC			Pfam_domain:PF15310	hypothetical protein LOC124783		T:0	T:0	ENSP00000331532	T:0	5-Apr	2.47E-05							0.000182	rs144271763,COSM3402944	5-Apr	.		ENST00000331780	Transcript		T:0.0002				ENSG00000184361	g.chr17:43332647C>T	26349			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=TEX34_HUMAN&rb=201&re=384&var=R301H	NA	getma.org/?cm=var&var=hg19,17,43332647,C,T&fts=all	R301H	--	--	1																																		LOC100133991_uc010dah.2_Intron|C17orf46_uc010wjk.1_Missense_Mutation_p.R280H	0,1	1		benign(0)	p.R301H	NM_152343	NP_689556	T:0.001	deleterious(0.05)	0,1	SPT32_HUMAN	SPATA32	HGNC	Q96LK8	CQ046_HUMAN			K7EQM9_HUMAN,B7Z7K7_HUMAN		4	998	-			UPI000049DE53	301					SNV	SPATA32,missense_variant,p.Arg280His,ENST00000543122,;SPATA32,missense_variant,p.Arg301His,ENST00000331780,NM_152343.2;MAP3K14-AS1,intron_variant,,ENST00000590100,;MAP3K14-AS1,intron_variant,,ENST00000592422,;MAP3K14-AS1,intron_variant,,ENST00000588160,;MAP3K14-AS1,intron_variant,,ENST00000588504,;MAP3K14-AS1,intron_variant,,ENST00000585346,;MAP3K14-AS1,intron_variant,,ENST00000588698,;MAP3K14-AS1,intron_variant,,ENST00000591263,;SPATA32,3_prime_UTR_variant,,ENST00000586359,;SPATA32,3_prime_UTR_variant,,ENST00000588866,;	uc002iis.1	c.902G>A	998/1284	1	1			c.902G>A						17	SNP	c.(901-903)CGC>CAC	11	11			large_intestine(1)|ovary(1)	2	Broad	hypothetical protein LOC124783			43332647		0.567	ENSG00000184361	1816	g.chr17:43332647C>T										191.33125	KEEP	38	39	-1	50	73	38	39	-1	193.012994	50	73	0.392857	1	0	0	0	0	1	0	0	0	--	--		0	T			LOC100133991_uc010dah.2_Intron|C17orf46_uc010wjk.1_Missense_Mutation_p.R280H	258	GBM-41-5651-TP	p.R301H	C	TCTGGCTTCGCGTGGTTTCTC	NM_152343	NP_689556	43332647	Q96LK8	CQ046_HUMAN	0			4	998	-	T	T			Missense_Mutation	301						
SPATA5	166378	broad.mit.edu	GRCh37	4	123868606	123868606	+	synonymous_variant	Silent	SNP	C	C	T	rs139834687	byFrequency	TCGA-06-0185-01	TCGA-06-0185-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274008.4:c.1677C>T	p.Tyr559=	p.Y559=	ENST00000274008	NM_145207.2	559	taC/taT	0	T:0	T:0	1	T:0.0014		T	Y	uc003iez.3	protein_coding	YES	CCDS3730.1			1677/2682										0	c.(1675-1677)TAC>TAT			hmmpanther:PTHR23077:SF27,hmmpanther:PTHR23077,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	spermatogenesis associated 5		T:0	T:0.0006	ENSP00000274008	T:0	16-Sep	4.94E-05		8.64E-05			7.50E-05			rs139834687,COSM1131277	16-Sep	.		ENST00000274008	Transcript		T:0.0002	cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	ENSG00000145375	g.chr4:123868606C>T	18119			LOW								--	--	1																																		SPATA5_uc003iey.2_Silent_p.Y558Y	0,1	1			p.Y559Y	NM_145207	NP_660208	T:0		0,1	SPAT5_HUMAN	SPATA5	HGNC	Q8NB90	SPAT5_HUMAN					9	1750	+			UPI000013D9E6	559					SNV	SPATA5,synonymous_variant,p.=,ENST00000274008,NM_145207.2;SPATA5,non_coding_transcript_exon_variant,,ENST00000422835,;	uc003iez.3	c.1677C>T	1746/8137	2	2			c.1677C>T						4	SNP	c.(1675-1677)TAC>TAT	46	46				0	Broad	spermatogenesis associated 5			123868606		0.468	ENSG00000145375	14782	g.chr4:123868606C>T	cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity							30.649115	KEEP	10	13	-1	90	72	10	13	-1	49.580268	90	72	0.142857	1	0	0	0	0	0	0	1	0	--	--		0	T			SPATA5_uc003iey.2_Silent_p.Y558Y	40	GBM-06-0185-TP	p.Y559Y	C	CTCATGGATACGTTGGAGCAG	NM_145207	NP_660208	123868606	Q8NB90	SPAT5_HUMAN	0			9	1750	+	T	T			Silent	559						
SPATA5L1	0	broad.mit.edu	GRCh37	15	45709546	45709546	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-28-5214-01	TCGA-28-5214-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305560.6:c.1917A>G	p.Leu639=	p.L639=	ENST00000305560	NM_024063.2	639	ttA/ttG	0			1			G	L	uc001zve.2	protein_coding	YES	CCDS10123.1			1917/2262									ovary(3)|skin(1)	4	c.(1915-1917)TTA>TTG			Gene3D:3.40.50.300,Pfam_domain:PF00004,PROSITE_patterns:PS00674,hmmpanther:PTHR23077,hmmpanther:PTHR23077:SF53,SMART_domains:SM00382,Superfamily_domains:SSF52540	spermatogenesis associated 5-like 1				ENSP00000305494		8-Jun									COSM3401769	8-Jun	.		ENST00000305560	Transcript				cytoplasm	ATP binding|nucleoside-triphosphatase activity	ENSG00000171763	g.chr15:45709546A>G	28762			LOW								--	--	1																																		SPATA5L1_uc001zvf.2_RNA	1	1			p.L639L	NM_024063	NP_076968			1	SPA5L_HUMAN	SPATA5L1	HGNC	Q9BVQ7	SPA5L_HUMAN		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)			6	2026	+		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	UPI00001AEDF3	639					SNV	SPATA5L1,synonymous_variant,p.=,ENST00000305560,NM_024063.2;SPATA5L1,synonymous_variant,p.=,ENST00000531624,;SPATA5L1,downstream_gene_variant,,ENST00000559860,;SPATA5L1,upstream_gene_variant,,ENST00000533841,;SPATA5L1,3_prime_UTR_variant,,ENST00000531970,;SPATA5L1,non_coding_transcript_exon_variant,,ENST00000533199,;	uc001zve.2	c.1917A>G	2016/2570	3	3			c.1917A>G						15	SNP	c.(1915-1917)TTA>TTG	49	49			ovary(3)|skin(1)	4	Broad	spermatogenesis associated 5-like 1			45709546		0.393	ENSG00000171763	14783	g.chr15:45709546A>G		cytoplasm	ATP binding|nucleoside-triphosphatase activity							-44.738974	KEEP	1	2	-1	88	112	1	2	-1	6.616833	88	112	0.015544	1	0	0	0	0	0	0	1	0	--	--		0	G			SPATA5L1_uc001zvf.2_RNA	221	GBM-28-5214-TP	p.L639L	A	CTGCTTTGTTACGACCTGGAA	NM_024063	NP_076968	45709546	Q9BVQ7	SPA5L_HUMAN	0		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)	6	2026	+	G	G		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	Silent	639						
SPATA8	0	broad.mit.edu	GRCh37	15	97326893	97326893	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01	TCGA-26-6174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328504.3:c.8C>T	p.Pro3Leu	p.P3L	ENST00000328504	NM_173499.3	3	cCg/cTg	0			1			T	P/L	uc002bue.2	protein_coding	YES	CCDS10376.1			8/318									ovary(1)|skin(1)	2	c.(7-9)CCG>CTG				spermatogenesis associated 8				ENSP00000328149		3-Jan	1.65E-05	9.66E-05						6.15E-05	rs768208250,COSM3402033	3-Jan	.		ENST00000328504	Transcript						ENSG00000185594	g.chr15:97326893C>T	28676			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=SPAT8_HUMAN&rb=1&re=105&var=P3L	NA	getma.org/?cm=var&var=hg19,15,97326893,C,T&fts=all	P3L	--	--	1																																		uc010uro.1_5'Flank|uc010urp.1_5'Flank|uc002bud.1_5'Flank	0,1	1		possibly_damaging(0.859)	p.P3L	NM_173499	NP_775770		tolerated_low_confidence(1)	0,1	SPAT8_HUMAN	SPATA8	HGNC	Q6RVD6	SPAT8_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0718)				1	218	+	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		UPI000006FC10	3					SNV	SPATA8,missense_variant,p.Pro3Leu,ENST00000328504,NM_173499.3;SPATA8,intron_variant,,ENST00000558553,;SPATA8-AS1,upstream_gene_variant,,ENST00000558722,;SPATA8-AS1,upstream_gene_variant,,ENST00000560888,;SPATA8,non_coding_transcript_exon_variant,,ENST00000560327,;SPATA8,non_coding_transcript_exon_variant,,ENST00000561002,;	uc002bue.2	c.8C>T	275/1083	2	2			c.8C>T						15	SNP	c.(7-9)CCG>CTG	38	38			ovary(1)|skin(1)	2	Broad	spermatogenesis associated 8			97326893		0.567	ENSG00000185594	14786	g.chr15:97326893C>T										34.251183	KEEP	6	8	-1	20	23	6	8	-1	37.030615	20	23	0.254902	1	0	0	0	0	1	0	0	0	--	--		0	T			uc010uro.1_5'Flank|uc010urp.1_5'Flank|uc002bud.1_5'Flank	188	GBM-26-6174-TP	p.P3L	C	GGAATGGCCCCGGCTGGGATG	NM_173499	NP_775770	97326893	Q6RVD6	SPAT8_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(32;0.0718)		1	218	+	T	T	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		Missense_Mutation	3						
SPATC1	375686	broad.mit.edu	GRCh37	8	145095497	145095497	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0155-01	TCGA-06-0155-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377470.3:c.795G>A	p.Ser265=	p.S265=	ENST00000377470	NM_198572.2	265	tcG/tcA	0			1			A	S	uc011lkw.1	protein_coding	YES	CCDS6413.2			795/1776									ovary(1)|central_nervous_system(1)	2	c.(793-795)TCG>TCA			hmmpanther:PTHR22192,hmmpanther:PTHR22192:SF16	spermatogenesis and centriole associated 1				ENSP00000366690		5-Mar	8.24E-06							8.09E-05	rs782622347,COSM2150010,COSM2150009	5-Mar	.		ENST00000377470	Transcript						ENSG00000186583	g.chr8:145095497G>A	30510			LOW								--	--	1																																		SPATC1_uc011lkx.1_Silent_p.S265S	0,1,1	1			p.S265S	NM_198572	NP_940974			0,1,1	SPERI_HUMAN	SPATC1	HGNC	Q76KD6	SPERI_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)				3	897	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		UPI00001D8243	265					SNV	SPATC1,synonymous_variant,p.=,ENST00000377470,NM_198572.2;SPATC1,synonymous_variant,p.=,ENST00000447830,NM_001134374.1;	uc011lkw.1	c.795G>A	897/1954	2	2			c.795G>A						8	SNP	c.(793-795)TCG>TCA	25	25			ovary(1)|central_nervous_system(1)	2	Broad	spermatogenesis and centriole associated 1			145095497		0.617	ENSG00000186583	14788	g.chr8:145095497G>A										193.313776	KEEP	30	49	-1	53	77	30	49	-1	195.261393	53	77	0.385965	1	0	0	0	0	0	0	1	0	--	--		0	A			SPATC1_uc011lkx.1_Silent_p.S265S	27	GBM-06-0155-TP	p.S265S	G	CCCCCCAGTCGACCCAGGACC	NM_198572	NP_940974	145095497	Q76KD6	SPERI_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		3	897	+	A	A	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Silent	265						
SPATC1	375686		GRCh37	8	145095802	145095802	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000377470.3:c.1100G>A	p.Arg367Gln	p.R367Q	ENST00000377470	NM_198572.2	367	cGa/cAa	0																																																																																																																																																																																																																																												
SPATS2	0	broad.mit.edu	GRCh37	12	49919998	49919998	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01	TCGA-19-2623-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321898.6:c.1598G>A	p.Arg533His	p.R533H	ENST00000321898		533	cGc/cAc	0			1			A	R/H	uc001rud.2	protein_coding		CCDS31794.1			1598/1638								p.R533H(1)	breast(1)	1	c.(1597-1599)CGC>CAC			hmmpanther:PTHR15623,hmmpanther:PTHR15623:SF9	spermatogenesis associated, serine-rich 2				ENSP00000326841		13/13	4.94E-05	9.70E-05				4.52E-05		0.000123	rs775186083,COSM50383	13/13	.		ENST00000321898	Transcript				cytoplasm		ENSG00000123352	g.chr12:49919998G>A	18650			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=SPAS2_HUMAN&rb=445&re=543&var=R533H	NA	getma.org/?cm=var&var=hg19,12,49919998,G,A&fts=all	R533H	--	--	1																																		SPATS2_uc001rue.2_RNA|SPATS2_uc009zli.1_Missense_Mutation_p.R533H|SPATS2_uc001ruf.2_Missense_Mutation_p.R533H|SPATS2_uc001rug.2_Missense_Mutation_p.R533H	0,1			probably_damaging(0.999)	p.R533H	NM_023071	NP_075559		deleterious(0.02)	0,1	SPAS2_HUMAN	SPATS2	HGNC	Q86XZ4	SPAS2_HUMAN			F8W128_HUMAN,F8VZS5_HUMAN,F8VXP9_HUMAN,F8VXB3_HUMAN,F8VX46_HUMAN,F8VRH4_HUMAN		14	2587	+			UPI0000171C5F	533					SNV	SPATS2,missense_variant,p.Arg533His,ENST00000553127,;SPATS2,missense_variant,p.Arg533His,ENST00000321898,;SPATS2,missense_variant,p.Arg533His,ENST00000552918,NM_023071.3;SPATS2,downstream_gene_variant,,ENST00000547003,;SPATS2,3_prime_UTR_variant,,ENST00000549412,;SPATS2,downstream_gene_variant,,ENST00000548727,;	uc001rud.2	c.1598G>A	1954/3158	2	2			c.1598G>A						12	SNP	c.(1597-1599)CGC>CAC	28	28		p.R533H(1)	breast(1)	1	Broad	spermatogenesis associated, serine-rich 2			49919998		0.522	ENSG00000123352	14790	g.chr12:49919998G>A		cytoplasm								114.183645	KEEP	21	18	-1	11	15	21	18	-1	114.899676	11	15	0.616667	1	0	0	0	0	1	0	0	0	--	--		0	A			SPATS2_uc001rue.2_RNA|SPATS2_uc009zli.1_Missense_Mutation_p.R533H|SPATS2_uc001ruf.2_Missense_Mutation_p.R533H|SPATS2_uc001rug.2_Missense_Mutation_p.R533H	163	GBM-19-2623-TP	p.R533H	G	CTCCCCCAGCGCAAACCCAGG	NM_023071	NP_075559	49919998	Q86XZ4	SPAS2_HUMAN	0			14	2587	+	A	A			Missense_Mutation	533						
SPATS2L	0	broad.mit.edu	GRCh37	2	201332021	201332021	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-3915-01	TCGA-41-3915-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358677.5:c.856C>T	p.Leu286=	p.L286=	ENST00000358677	NM_015535.2	286	Ctg/Ttg	0			1			T	L	uc002uvn.3	protein_coding	YES	CCDS46483.1			856/1677									ovary(2)|pancreas(1)	3	c.(856-858)CTG>TTG			hmmpanther:PTHR15623:SF8,hmmpanther:PTHR15623,Pfam_domain:PF07139	SPATS2-like protein isoform a				ENSP00000351503		13-Oct									COSM3407469,COSM3407467,COSM3407468	13-Oct	.		ENST00000358677	Transcript				cytoplasm|nucleolus		ENSG00000196141	g.chr2:201332021C>T	24574			LOW								--	--	1																																		SPATS2L_uc010fst.2_Silent_p.L286L|SPATS2L_uc002uvo.3_Silent_p.L226L|SPATS2L_uc002uvp.3_Silent_p.L286L|SPATS2L_uc002uvq.3_Silent_p.L217L|SPATS2L_uc002uvr.3_Silent_p.L286L|SPATS2L_uc010zhc.1_Silent_p.L316L	1,1,1	1			p.L286L	NM_015535	NP_056350			1,1,1	SPS2L_HUMAN	SPATS2L	HGNC	Q9NUQ6	SPS2L_HUMAN			F8WAV0_HUMAN,F8VT91_HUMAN,F2Z2S1_HUMAN,C9JKE4_HUMAN,C9J8M7_HUMAN,C9IZC3_HUMAN,B8ZZZ7_HUMAN		10	1208	+			UPI0000D48A8E	286			Potential.		SNV	SPATS2L,synonymous_variant,p.=,ENST00000358677,NM_015535.2,NM_001282744.1,NM_001282735.1,NM_001282743.1;SPATS2L,synonymous_variant,p.=,ENST00000409988,NM_001100422.1;SPATS2L,synonymous_variant,p.=,ENST00000409718,;SPATS2L,synonymous_variant,p.=,ENST00000409140,NM_001100423.1;SPATS2L,synonymous_variant,p.=,ENST00000409385,;SPATS2L,synonymous_variant,p.=,ENST00000451764,;SPATS2L,synonymous_variant,p.=,ENST00000360760,NM_001100424.1;SPATS2L,synonymous_variant,p.=,ENST00000409151,;SPATS2L,synonymous_variant,p.=,ENST00000409755,;SPATS2L,synonymous_variant,p.=,ENST00000409397,;SPATS2L,synonymous_variant,p.=,ENST00000438761,;SPATS2L,non_coding_transcript_exon_variant,,ENST00000468832,;SPATS2L,upstream_gene_variant,,ENST00000460095,;SPATS2L,upstream_gene_variant,,ENST00000462190,;	uc002uvn.3	c.856C>T	1103/6156	1	1			c.856C>T						2	SNP	c.(856-858)CTG>TTG	16	16			ovary(2)|pancreas(1)	3	Broad	SPATS2-like protein isoform a			201332021		0.438	ENSG00000196141	14791	g.chr2:201332021C>T		cytoplasm|nucleolus								132.39665	KEEP	28	16	-1	28	21	28	16	-1	132.487314	28	21	0.465116	1	0	0	0	0	0	0	1	0	--	--		0	T			SPATS2L_uc010fst.2_Silent_p.L286L|SPATS2L_uc002uvo.3_Silent_p.L226L|SPATS2L_uc002uvp.3_Silent_p.L286L|SPATS2L_uc002uvq.3_Silent_p.L217L|SPATS2L_uc002uvr.3_Silent_p.L286L|SPATS2L_uc010zhc.1_Silent_p.L316L	256	GBM-41-3915-TP	p.L286L	C	AGTGGAAATCCTGACTGCTCG	NM_015535	NP_056350	201332021	Q9NUQ6	SPS2L_HUMAN	0			10	1208	+	T	T			Silent	286			Potential.			
SPATS2L	0	broad.mit.edu	GRCh37	2	201303921	201303921	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-76-6192-01	TCGA-76-6192-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358677.5:c.522A>C	p.Ser174=	p.S174=	ENST00000358677	NM_015535.2	174	tcA/tcC	0			1			C	S	uc002uvn.3	protein_coding	YES	CCDS46483.1			522/1677									ovary(2)|pancreas(1)	3	c.(520-522)TCA>TCC			hmmpanther:PTHR15623:SF8,hmmpanther:PTHR15623,Pfam_domain:PF07139	SPATS2-like protein isoform a				ENSP00000351503		13-Jul									COSM3407466,COSM3407464,COSM3407465	13-Jul	.		ENST00000358677	Transcript				cytoplasm|nucleolus		ENSG00000196141	g.chr2:201303921A>C	24574			LOW								--	--	1																																		SPATS2L_uc010fst.2_Silent_p.S174S|SPATS2L_uc002uvo.3_Silent_p.S114S|SPATS2L_uc002uvp.3_Silent_p.S174S|SPATS2L_uc002uvq.3_Intron|SPATS2L_uc002uvr.3_Silent_p.S174S|SPATS2L_uc010zhc.1_Silent_p.S204S	1,1,1	1			p.S174S	NM_015535	NP_056350			1,1,1	SPS2L_HUMAN	SPATS2L	HGNC	Q9NUQ6	SPS2L_HUMAN			F8WAV0_HUMAN,F8VT91_HUMAN,F2Z2S1_HUMAN,C9JKE4_HUMAN,C9J8M7_HUMAN,C9IZC3_HUMAN,B8ZZZ7_HUMAN		7	874	+			UPI0000D48A8E	174					SNV	SPATS2L,synonymous_variant,p.=,ENST00000358677,NM_015535.2,NM_001282744.1,NM_001282735.1,NM_001282743.1;SPATS2L,synonymous_variant,p.=,ENST00000409988,NM_001100422.1;SPATS2L,synonymous_variant,p.=,ENST00000409718,;SPATS2L,synonymous_variant,p.=,ENST00000409140,NM_001100423.1;SPATS2L,synonymous_variant,p.=,ENST00000409385,;SPATS2L,synonymous_variant,p.=,ENST00000451764,;SPATS2L,synonymous_variant,p.=,ENST00000409151,;SPATS2L,synonymous_variant,p.=,ENST00000409755,;SPATS2L,synonymous_variant,p.=,ENST00000457757,;SPATS2L,intron_variant,,ENST00000360760,NM_001100424.1;SPATS2L,intron_variant,,ENST00000409397,;SPATS2L,intron_variant,,ENST00000438761,;SPATS2L,intron_variant,,ENST00000449647,;SPATS2L,intron_variant,,ENST00000453663,;SPATS2L,upstream_gene_variant,,ENST00000366118,;SPATS2L,downstream_gene_variant,,ENST00000421573,;	uc002uvn.3	c.522A>C	769/6156	3	3			c.522A>C						2	SNP	c.(520-522)TCA>TCC	7	7			ovary(2)|pancreas(1)	3	Broad	SPATS2-like protein isoform a			201303921		0.448	ENSG00000196141	14791	g.chr2:201303921A>C		cytoplasm|nucleolus								22.98145	KEEP	7	5	-1	33	20	7	5	-1	28.429467	33	20	0.186441	1	0	0	0	0	0	0	1	0	--	--		0	C			SPATS2L_uc010fst.2_Silent_p.S174S|SPATS2L_uc002uvo.3_Silent_p.S114S|SPATS2L_uc002uvp.3_Silent_p.S174S|SPATS2L_uc002uvq.3_Intron|SPATS2L_uc002uvr.3_Silent_p.S174S|SPATS2L_uc010zhc.1_Silent_p.S204S	275	GBM-76-6192-TP	p.S174S	A	CAGAGAGGTCAGATGGCCTAC	NM_015535	NP_056350	201303921	Q9NUQ6	SPS2L_HUMAN	0			7	874	+	C	C			Silent	174						
SPDL1	54908	broad.mit.edu	GRCh37	5	169031191	169031191	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-2569-01	TCGA-06-2569-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265295.4:c.1798A>G	p.Thr600Ala	p.T600A	ENST00000265295	NM_017785.4	600	Acc/Gcc	0			1			G	T/A	uc003mae.3	protein_coding	YES	CCDS4370.1			1798/1818									ovary(1)|liver(1)	2	c.(1798-1800)ACC>GCC			HAMAP:MF_03041,hmmpanther:PTHR32123,hmmpanther:PTHR32123:SF9	coiled-coil domain containing 99				ENSP00000265295		12-Dec									COSM3410133	12-Dec	.		ENST00000265295	Transcript			cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding	ENSG00000040275	g.chr5:169031191A>G	26010			MODERATE		1.955	medium	getma.org/?cm=msa&ty=f&p=SPDLY_HUMAN&rb=9&re=603&var=T600A	NA	getma.org/?cm=var&var=hg19,5,169031191,A,G&fts=all	T600A	--	--	1																																		CCDC99_uc011deq.1_Missense_Mutation_p.T417A|CCDC99_uc010jjk.2_Missense_Mutation_p.T326A	1	1		possibly_damaging(0.448)	p.T600A	NM_017785	NP_060255		tolerated(0.06)	1	SPDLY_HUMAN	SPDL1	HGNC	Q96EA4	SPDLY_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		D6RIF7_HUMAN,D6RIB8_HUMAN,D6REZ1_HUMAN,D6RC83_HUMAN,D6R936_HUMAN		12	2077	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	UPI000013D5F0	600					SNV	SPDL1,missense_variant,p.Thr600Ala,ENST00000265295,NM_017785.4;SPDL1,downstream_gene_variant,,ENST00000507232,;	uc003mae.3	c.1798A>G	2077/2668	3	3			c.1798A>G						5	SNP	c.(1798-1800)ACC>GCC	64	64			ovary(1)|liver(1)	2	Broad	coiled-coil domain containing 99			169031191		0.358	ENSG00000040275	2824	g.chr5:169031191A>G	cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding							70.134612	KEEP	16	12	-1	47	64	16	12	-1	78.702027	47	64	0.217391	1	0	0	0	0	1	0	0	0	--	--		0	G			CCDC99_uc011deq.1_Missense_Mutation_p.T417A|CCDC99_uc010jjk.2_Missense_Mutation_p.T326A	90	GBM-06-2569-TP	p.T600A	A	TACTCCAGAGACCCAGTGCCC	NM_017785	NP_060255	169031191	Q96EA4	SPDLY_HUMAN	0	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		12	2077	+	G	G	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Missense_Mutation	600						
SPDYC	387778	broad.mit.edu	GRCh37	11	64939756	64939756	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0650-01	TCGA-06-0650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377185.2:c.298C>A	p.His100Asn	p.H100N	ENST00000377185	NM_001008778.1	100	Cac/Aac	0			1			A	H/N	uc010rnz.1	protein_coding	YES	CCDS31606.1			298/882										0	c.(298-300)CAC>AAC			hmmpanther:PTHR31545:SF2,hmmpanther:PTHR31545,Pfam_domain:PF11357	speedy C				ENSP00000366390		7-Apr									COSM3398039	7-Apr	.		ENST00000377185	Transcript			cell cycle	nucleus	protein kinase binding	ENSG00000204710	g.chr11:64939756C>A	32681			MODERATE		-0.805	neutral	getma.org/?cm=msa&ty=f&p=SPDYC_HUMAN&rb=57&re=187&var=H100N	NA	getma.org/?cm=var&var=hg19,11,64939756,C,A&fts=all	H100N	--	--	1																																			1	1		benign(0.002)	p.H100N	NM_001008778	NP_001008778		tolerated(1)	1	SPDYC_HUMAN	SPDYC	HGNC	Q5MJ68	SPDYC_HUMAN					4	298	+			UPI00004A072F	100			Speedy/Ringo box; Required for CDK- binding (By similarity).		SNV	SPDYC,missense_variant,p.His100Asn,ENST00000377185,NM_001008778.1;AP003068.18,downstream_gene_variant,,ENST00000534819,;PGAM1P8,downstream_gene_variant,,ENST00000505544,;AP003068.18,downstream_gene_variant,,ENST00000526979,;	uc010rnz.1	c.298C>A	380/991	2	2			c.298C>A						11	SNP	c.(298-300)CAC>AAC	41	41				0	Broad	speedy C			64939756		0.597	ENSG00000204710	14799	g.chr11:64939756C>A	cell cycle	nucleus	protein kinase binding							10.039348	KEEP	9	8	0.470588235	60	88	9	8	0.470588235	32.424109	60	88	0.1	1	0	0	0	0	1	0	0	0	--	--		0	A				63	GBM-06-0650-TP	p.H100N	C	CCAGCGCGCCCACCTGAAGCT	NM_001008778	NP_001008778	64939756	Q5MJ68	SPDYC_HUMAN	0			4	298	+	A	A			Missense_Mutation	100			Speedy/Ringo box; Required for CDK- binding (By similarity).			
SPDYE1	0	broad.mit.edu	GRCh37	7	44046879	44046879	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-6695-01	TCGA-06-6695-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258704.3:c.645T>C	p.Asn215=	p.N215=	ENST00000258704	NM_175064.2	215	aaT/aaC	0			1			C	N	uc003tjf.2	protein_coding	YES	CCDS5475.1			645/1011									ovary(1)	1	c.(643-645)AAT>AAC			hmmpanther:PTHR31156:SF12,hmmpanther:PTHR31156,Pfam_domain:PF11357	Williams Beuren syndrome chromosome region 19				ENSP00000258704		7-May									COSM3412073	7-May	.		ENST00000258704	Transcript						ENSG00000136206	g.chr7:44046879T>C	16408			LOW								--	--	1																																		POLR2J4_uc003tjc.2_Intron|POLR2J4_uc003tjd.2_Intron|POLR2J4_uc010kxw.2_Intron|POLR2J4_uc003tje.3_Intron|uc003tjg.1_RNA	1	1			p.N215N	NM_175064	NP_778234			1	SPDE1_HUMAN	SPDYE1	HGNC	Q8NFV5	SPDE1_HUMAN					5	781	+			UPI000013CFF7	215					SNV	SPDYE1,synonymous_variant,p.=,ENST00000258704,NM_175064.2,NM_001099435.2;AC004951.6,non_coding_transcript_exon_variant,,ENST00000447643,;POLR2J4,intron_variant,,ENST00000427076,;RP5-1165K10.2,intron_variant,,ENST00000454572,;POLR2J4,intron_variant,,ENST00000422304,;	uc003tjf.2	c.645T>C	782/2649	4	4			c.645T>C						7	SNP	c.(643-645)AAT>AAC	39	39			ovary(1)	1	Broad	Williams Beuren syndrome chromosome region 19			44046879		0.567	ENSG00000136206	14800	g.chr7:44046879T>C										222.92065	KEEP	50	51	-1	122	126	50	51	-1	234.852389	122	126	0.282143	1	0	0	0	0	0	0	1	0	--	--		0	C			POLR2J4_uc003tjc.2_Intron|POLR2J4_uc003tjd.2_Intron|POLR2J4_uc010kxw.2_Intron|POLR2J4_uc003tje.3_Intron|uc003tjg.1_RNA	110	GBM-06-6695-TP	p.N215N	T	ACCTGGCCAATGACATGGAGG	NM_175064	NP_778234	44046879	Q8NFV5	SPDE1_HUMAN	0			5	781	+	C	C			Silent	215						
SPECC1L	0	broad.mit.edu	GRCh37	22	24807598	24807598	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-1970-01	TCGA-32-1970-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314328.9:c.3130C>T	p.Leu1044=	p.L1044=	ENST00000314328	NM_015330.4	1044	Ctg/Ttg	0			1			T	L	uc002zzw.2	protein_coding	YES	CCDS33619.1			3130/3354										0	c.(3130-3132)CTG>TTG			PROSITE_profiles:PS50021,hmmpanther:PTHR23167:SF18,hmmpanther:PTHR23167,Pfam_domain:PF00307,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576	cytospin A				ENSP00000325785		15/17									COSM3405554	15/17	.		ENST00000314328	Transcript	1		cell cycle|cell division			ENSG00000100014	g.chr22:24807598C>T	29022			LOW								--	--	1																																		CYTSA_uc002zzv.3_Silent_p.L1044L|CYTSA_uc011ajq.1_Intron	1	1			p.L1044L	NM_015330	NP_056145			1	CYTSA_HUMAN	SPECC1L	HGNC	Q69YQ0	CYTSA_HUMAN			C9JLY8_HUMAN,C9J8U1_HUMAN		15	3437	+			UPI00001B64E9	1044			CH.		SNV	SPECC1L,synonymous_variant,p.=,ENST00000314328,NM_015330.4,NM_001254733.1;SPECC1L,synonymous_variant,p.=,ENST00000437398,NM_001145468.3,NM_001254732.2;SPECC1L,intron_variant,,ENST00000541492,;SPECC1L-ADORA2A,3_prime_UTR_variant,,ENST00000358654,;SPECC1L,upstream_gene_variant,,ENST00000472799,;	uc002zzw.2	c.3130C>T	3415/6756	1	1			c.3130C>T						22	SNP	c.(3130-3132)CTG>TTG	4	4				0	Broad	cytospin A			24807598		0.493	ENSG00000100014	4135	g.chr22:24807598C>T	cell cycle|cell division									312.831024	KEEP	48	52	-1	32	37	48	52	-1	314.577686	32	37	0.611111	1	0	0	0	0	0	0	1	0	--	--		0	T			CYTSA_uc002zzv.3_Silent_p.L1044L|CYTSA_uc011ajq.1_Intron	228	GBM-32-1970-TP	p.L1044L	C	GAATGATGGGCTGGCCTTCTG	NM_015330	NP_056145	24807598	Q69YQ0	CYTSA_HUMAN	0			15	3437	+	T	T			Silent	1044			CH.			
SPEF2	0	broad.mit.edu	GRCh37	5	35771803	35771804	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-19-2629-01	TCGA-19-2629-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356031.3:c.3900dupA	p.Val1301SerfsTer18	p.V1301Sfs*18	ENST00000356031	NM_024867.3	1298	-/A	0			1			A	-/X	uc003jjo.2	protein_coding	YES	CCDS43309.1			3894-3895/5469									skin(2)|ovary(1)|central_nervous_system(1)	4	c.(3892-3897)AATAAAfs			hmmpanther:PTHR14919,hmmpanther:PTHR14919:SF0	KPL2 protein isoform 1				ENSP00000348314		27/37										27/37	.		ENST00000356031	Transcript			nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	ENSG00000152582	g.chr5:35771803_35771804insA	26293	6		HIGH								--	--	1																																		SPEF2_uc003jjp.1_Frame_Shift_Ins_p.N784fs|SPEF2_uc003jjr.2_5'Flank		1			p.N1298fs	NM_024867	NP_079143				SPEF2_HUMAN	SPEF2	HGNC	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)				27	4005_4006	+	all_lung(31;7.56e-05)		UPI0001505B9F	1298_1299					insertion	SPEF2,frameshift_variant,p.Val1296SerfsTer18,ENST00000440995,;SPEF2,frameshift_variant,p.Val1301SerfsTer18,ENST00000356031,NM_024867.3;CTD-2113L7.1,intron_variant,,ENST00000510433,;SPEF2,upstream_gene_variant,,ENST00000506526,;	uc003jjo.2	c.3894_3895insA	4048-4049/5681	5	5			c.3894_3895insA						5	INS	c.(3892-3897)AATAAAfs	16	16			skin(2)|ovary(1)|central_nervous_system(1)	4	Broad	KPL2 protein isoform 1			35771804		0.426	ENSG00000152582	14804	g.chr5:35771803_35771804insA	nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity																				0.09	1	0	0	1	1	0	0	0	0	--	--		0	A			SPEF2_uc003jjp.1_Frame_Shift_Ins_p.N784fs|SPEF2_uc003jjr.2_5'Flank	166	GBM-19-2629-TP	p.N1298fs	-	TGGGTGCAAATAAAAAAGTCAA	NM_024867	NP_079143	35771803	Q9C093	SPEF2_HUMAN	0	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		27	4005_4006	+	A	A	all_lung(31;7.56e-05)		Frame_Shift_Ins	1298_1299						
SPEF2	0	broad.mit.edu	GRCh37	5	35659271	35659271	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-19-2631-01	TCGA-19-2631-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356031.3:c.1129C>T	p.Arg377Ter	p.R377*	ENST00000356031	NM_024867.3	377	Cga/Tga	0			1			T	R/*	uc003jjo.2	protein_coding	YES	CCDS43309.1			1129/5469									skin(2)|ovary(1)|central_nervous_system(1)	4	c.(1129-1131)CGA>TGA			hmmpanther:PTHR14919,hmmpanther:PTHR14919:SF0	KPL2 protein isoform 1				ENSP00000348314		Aug-37	4.12E-05			0.000117		6.04E-05			rs774221694,COSM307753,COSM2156421	Aug-37	.		ENST00000356031	Transcript			nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	ENSG00000152582	g.chr5:35659271C>T	26293			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,5,35659271,C,T&fts=all	R377*	--	--	1																																		SPEF2_uc003jjn.1_Nonsense_Mutation_p.R377*|SPEF2_uc003jjq.3_Nonsense_Mutation_p.R377*	0,1,1	1			p.R377*	NM_024867	NP_079143			0,1,1	SPEF2_HUMAN	SPEF2	HGNC	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)				8	1240	+	all_lung(31;7.56e-05)		UPI0001505B9F	377			Potential.		SNV	SPEF2,stop_gained,p.Arg377Ter,ENST00000440995,;SPEF2,stop_gained,p.Arg377Ter,ENST00000356031,NM_024867.3;SPEF2,stop_gained,p.Arg377Ter,ENST00000509059,;SPEF2,stop_gained,p.Arg377Ter,ENST00000282469,NM_144722.3;SPEF2,downstream_gene_variant,,ENST00000510777,;SPEF2,non_coding_transcript_exon_variant,,ENST00000503074,;SPEF2,downstream_gene_variant,,ENST00000502454,;	uc003jjo.2	c.1129C>T	1283/5681	5	1			c.1129C>T						5	SNP	c.(1129-1131)CGA>TGA	9	9			skin(2)|ovary(1)|central_nervous_system(1)	4	Broad	KPL2 protein isoform 1			35659271		0.408	ENSG00000152582	14804	g.chr5:35659271C>T	nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity							89.163961	KEEP	16	20	-1	26	23	16	20	-1	89.48469	26	23	0.426471	1	0	0	0	0	0	1	0	0	--	--		0	T			SPEF2_uc003jjn.1_Nonsense_Mutation_p.R377*|SPEF2_uc003jjq.3_Nonsense_Mutation_p.R377*	167	GBM-19-2631-TP	p.R377*	C	TGAGGAAAGACGACTTAAAGA	NM_024867	NP_079143	35659271	Q9C093	SPEF2_HUMAN	0	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		8	1240	+	T	T	all_lung(31;7.56e-05)		Nonsense_Mutation	377			Potential.			
SPEF2	0	broad.mit.edu	GRCh37	5	35641735	35641735	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01	TCGA-27-1836-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356031.3:c.364C>T	p.Arg122Cys	p.R122C	ENST00000356031	NM_024867.3	122	Cgt/Tgt	0			1			T	R/C	uc003jjo.2	protein_coding	YES	CCDS43309.1			364/5469									skin(2)|ovary(1)|central_nervous_system(1)	4	c.(364-366)CGT>TGT			hmmpanther:PTHR14919,hmmpanther:PTHR14919:SF0,Pfam_domain:PF06294	KPL2 protein isoform 1				ENSP00000348314		Mar-37	7.41E-05		8.74E-05	0.000809			0.00111		rs758346764,COSM3410242,COSM3410241	Mar-37	common_variant		ENST00000356031	Transcript			nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	ENSG00000152582	g.chr5:35641735C>T	26293			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=SPEF2_HUMAN&rb=5&re=163&var=R122C	NA	getma.org/?cm=var&var=hg19,5,35641735,C,T&fts=all	R122C	--	--	1																																		SPEF2_uc003jjn.1_Missense_Mutation_p.R122C|SPEF2_uc003jjq.3_Missense_Mutation_p.R122C	0,1,1	1		possibly_damaging(0.498)	p.R122C	NM_024867	NP_079143		deleterious(0)	0,1,1	SPEF2_HUMAN	SPEF2	HGNC	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)				3	475	+	all_lung(31;7.56e-05)		UPI0001505B9F	122					SNV	SPEF2,missense_variant,p.Arg122Cys,ENST00000440995,;SPEF2,missense_variant,p.Arg122Cys,ENST00000356031,NM_024867.3;SPEF2,missense_variant,p.Arg122Cys,ENST00000509059,;SPEF2,missense_variant,p.Arg122Cys,ENST00000282469,NM_144722.3;SPEF2,missense_variant,p.Arg122Cys,ENST00000510777,;SPEF2,missense_variant,p.Arg122Cys,ENST00000505847,;SPEF2,non_coding_transcript_exon_variant,,ENST00000505088,;SPEF2,upstream_gene_variant,,ENST00000502454,;	uc003jjo.2	c.364C>T	518/5681	1	1			c.364C>T						5	SNP	c.(364-366)CGT>TGT	15	15			skin(2)|ovary(1)|central_nervous_system(1)	4	Broad	KPL2 protein isoform 1			35641735		0.358	ENSG00000152582	14804	g.chr5:35641735C>T	nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity							115.458654	KEEP	20	23	-1	37	59	20	23	-1	119.461696	37	59	0.3125	1	0	0	0	0	1	0	0	0	--	--		0	T			SPEF2_uc003jjn.1_Missense_Mutation_p.R122C|SPEF2_uc003jjq.3_Missense_Mutation_p.R122C	195	GBM-27-1836-TP	p.R122C	C	AACCATGCAACGTCTGACAAA	NM_024867	NP_079143	35641735	Q9C093	SPEF2_HUMAN	0	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		3	475	+	T	T	all_lung(31;7.56e-05)		Missense_Mutation	122						
SPEF2	79925		GRCh37	5	35740247	35740247	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000356031.3:c.3208T>A	p.Phe1070Ile	p.F1070I	ENST00000356031	NM_024867.3	1070	Ttt/Att	0																																																																																																																																																																																																																																												
SPEG	10290	broad.mit.edu	GRCh37	2	220309407	220309407	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01	TCGA-06-0744-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312358.7:c.421G>A	p.Val141Met	p.V141M	ENST00000312358	NM_005876.4	141	Gtg/Atg	0			1			A	V/M	uc010fwg.2	protein_coding	YES	CCDS42824.1			421/9804									stomach(9)|ovary(4)|central_nervous_system(1)	14	c.(421-423)GTG>ATG			hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156	SPEG complex locus				ENSP00000311684		Feb-41									COSM2151690	Feb-41	.		ENST00000312358	Transcript	1		muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	ENSG00000072195	g.chr2:220309407G>A	16901			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=SPEG_HUMAN&rb=126&re=200&var=V141M	NA	getma.org/?cm=var&var=hg19,2,220309407,G,A&fts=all	V141M	--	--	1																																		SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_Translation_Start_Site|SPEG_uc002vln.1_Translation_Start_Site	1	1		benign(0.332)	p.V141M	NM_005876	NP_005867			1	SPEG_HUMAN	SPEG	HGNC	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	B9A038_HUMAN		2	421	+		Renal(207;0.0183)	UPI000066D99E	141					SNV	SPEG,missense_variant,p.Val141Met,ENST00000312358,NM_005876.4;SPEG,missense_variant,p.Val37Met,ENST00000396698,;SPEG,missense_variant,p.Val47Met,ENST00000431523,;SPEG,missense_variant,p.Val50Met,ENST00000435853,;SPEG,missense_variant,p.Val11Met,ENST00000451076,;SPEG,5_prime_UTR_variant,,ENST00000396695,;SPEG,non_coding_transcript_exon_variant,,ENST00000498378,;SPEG,upstream_gene_variant,,ENST00000485813,;SPEG,upstream_gene_variant,,ENST00000491248,;SPEG,upstream_gene_variant,,ENST00000497065,;SPEG,missense_variant,p.Met48Ile,ENST00000452101,;SPEG,3_prime_UTR_variant,,ENST00000420132,;SPEG,3_prime_UTR_variant,,ENST00000403148,;SPEG,non_coding_transcript_exon_variant,,ENST00000464989,;SPEG,upstream_gene_variant,,ENST00000409595,;	uc010fwg.2	c.421G>A	553/10782	2	2			c.421G>A						2	SNP	c.(421-423)GTG>ATG	47	47			stomach(9)|ovary(4)|central_nervous_system(1)	14	Broad	SPEG complex locus			220309407		0.622	ENSG00000072195	14805	g.chr2:220309407G>A	muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			482			482	87.599675	KEEP	16	18	-1	21	24	16	18	-1	87.850316	21	24	0.43662	1	0	0	0	0	1	0	0	0	--	--		0	A			SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_Translation_Start_Site|SPEG_uc002vln.1_Translation_Start_Site	66	GBM-06-0744-TP	p.V141M	G	CATCAGCGATGTGCAGGGAAC	NM_005876	NP_005867	220309407	Q15772	SPEG_HUMAN	0		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	2	421	+	A	A		Renal(207;0.0183)	Missense_Mutation	141						
SPEG	10290	broad.mit.edu	GRCh37	2	220349266	220349266	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01	TCGA-06-2567-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312358.7:c.7081G>A	p.Gly2361Ser	p.G2361S	ENST00000312358	NM_005876.4	2361	Ggc/Agc	0			1			A	G/S	uc010fwg.2	protein_coding	YES	CCDS42824.1			7081/9804									stomach(9)|ovary(4)|central_nervous_system(1)	14	c.(7081-7083)GGC>AGC			Low_complexity_(Seg):seg,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156	SPEG complex locus				ENSP00000311684		30/41									COSM2153049	30/41	.		ENST00000312358	Transcript	1		muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	ENSG00000072195	g.chr2:220349266G>A	16901			MODERATE		-0.205	neutral	getma.org/?cm=msa&ty=f&p=SPEG_HUMAN&rb=1910&re=2559&var=G2361S	NA	getma.org/?cm=var&var=hg19,2,220349266,G,A&fts=all	G2361S	--	--	1																																			1	1		probably_damaging(0.999)	p.G2361S	NM_005876	NP_005867			1	SPEG_HUMAN	SPEG	HGNC	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	B9A038_HUMAN		30	7081	+		Renal(207;0.0183)	UPI000066D99E	2361			Arg-rich.		SNV	SPEG,missense_variant,p.Gly2361Ser,ENST00000312358,NM_005876.4;AC053503.11,intron_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;	uc010fwg.2	c.7081G>A	7213/10782	1	1			c.7081G>A						2	SNP	c.(7081-7083)GGC>AGC	58	58			stomach(9)|ovary(4)|central_nervous_system(1)	14	Broad	SPEG complex locus			220349266		0.731	ENSG00000072195	14805	g.chr2:220349266G>A	muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			482			482	12.298865	KEEP	4	2	-1	8	5	4	2	-1	12.32306	8	5	0.444444	1	0	0	0	0	1	0	0	0	--	--		0	A				89	GBM-06-2567-TP	p.G2361S	G	GGAGGAGCGCGGCCCCTTCCG	NM_005876	NP_005867	220349266	Q15772	SPEG_HUMAN	0		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	30	7081	+	A	A		Renal(207;0.0183)	Missense_Mutation	2361			Arg-rich.			
SPEG	0	broad.mit.edu	GRCh37	2	220346370	220346370	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01	TCGA-12-1597-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312358.7:c.5533G>A	p.Ala1845Thr	p.A1845T	ENST00000312358	NM_005876.4	1845	Gca/Aca	0			1			A	A/T	uc010fwg.2	protein_coding	YES	CCDS42824.1			5533/9804									stomach(9)|ovary(4)|central_nervous_system(1)	14	c.(5533-5535)GCA>ACA			PROSITE_profiles:PS50011,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	SPEG complex locus				ENSP00000311684		28/41	1.65E-05			0.000116				6.07E-05	rs759067349,COSM3407597	28/41	.		ENST00000312358	Transcript	1		muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	ENSG00000072195	g.chr2:220346370G>A	16901			MODERATE		2.91	medium	getma.org/?cm=msa&ty=f&p=SPEG_HUMAN&rb=1601&re=1854&var=A1845T	getma.org/pdb.php?prot=SPEG_HUMAN&from=1601&to=1854&var=A1845T	getma.org/?cm=var&var=hg19,2,220346370,G,A&fts=all	A1845T	--	--	1																																			0,1	1		possibly_damaging(0.771)	p.A1845T	NM_005876	NP_005867			0,1	SPEG_HUMAN	SPEG	HGNC	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	B9A038_HUMAN		28	5533	+		Renal(207;0.0183)	UPI000066D99E	1845			Protein kinase 1.		SNV	SPEG,missense_variant,p.Ala1845Thr,ENST00000312358,NM_005876.4;AC053503.11,downstream_gene_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;	uc010fwg.2	c.5533G>A	5665/10782	2	2			c.5533G>A						2	SNP	c.(5533-5535)GCA>ACA	17	17			stomach(9)|ovary(4)|central_nervous_system(1)	14	Broad	SPEG complex locus			220346370		0.443	ENSG00000072195	14805	g.chr2:220346370G>A	muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			482			482	24.588121	KEEP	5	7	-1	28	25	5	7	-1	30.235855	28	25	0.183333	1	0	0	0	0	1	0	0	0	--	--		0	A				124	GBM-12-1597-TP	p.A1845T	G	GAGACCTACCGCAGAAGAGAC	NM_005876	NP_005867	220346370	Q15772	SPEG_HUMAN	0		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	28	5533	+	A	A		Renal(207;0.0183)	Missense_Mutation	1845			Protein kinase 1.			
SPEG	0	broad.mit.edu	GRCh37	2	220353375	220353375	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1829-01	TCGA-14-1829-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312358.7:c.8014G>A	p.Val2672Met	p.V2672M	ENST00000312358	NM_005876.4	2672	Gtg/Atg	0			1			A	V/M	uc010fwg.2	protein_coding	YES	CCDS42824.1			8014/9804									stomach(9)|ovary(4)|central_nervous_system(1)	14	c.(8014-8016)GTG>ATG			PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726,Superfamily_domains:SSF49265	SPEG complex locus				ENSP00000311684		33/41	4.14E-05				0.000153	4.65E-05		6.89E-05	rs773412903,COSM3407598	33/41	.		ENST00000312358	Transcript	1		muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	ENSG00000072195	g.chr2:220353375G>A	16901			MODERATE		2.06	medium	getma.org/?cm=msa&ty=f&p=SPEG_HUMAN&rb=2584&re=2674&var=V2672M	getma.org/pdb.php?prot=SPEG_HUMAN&from=2584&to=2674&var=V2672M	getma.org/?cm=var&var=hg19,2,220353375,G,A&fts=all	V2672M	--	--	1																																			0,1	1		possibly_damaging(0.678)	p.V2672M	NM_005876	NP_005867			0,1	SPEG_HUMAN	SPEG	HGNC	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	B9A038_HUMAN		33	8014	+		Renal(207;0.0183)	UPI000066D99E	2672			Ig-like 9.		SNV	SPEG,missense_variant,p.Val2672Met,ENST00000312358,NM_005876.4;SPEG,upstream_gene_variant,,ENST00000412982,NM_001286811.1;AC053503.11,intron_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;	uc010fwg.2	c.8014G>A	8146/10782	2	2			c.8014G>A						2	SNP	c.(8014-8016)GTG>ATG	46	46			stomach(9)|ovary(4)|central_nervous_system(1)	14	Broad	SPEG complex locus			220353375		0.672	ENSG00000072195	14805	g.chr2:220353375G>A	muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			482			482	6.173787	KEEP	7	4	-1	40	45	7	4	-1	18.248539	40	45	0.111111	1	0	0	0	0	1	0	0	0	--	--		0	A				149	GBM-14-1829-TP	p.V2672M	G	CTCCTGTACCGTGGCTGTGGC	NM_005876	NP_005867	220353375	Q15772	SPEG_HUMAN	0		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	33	8014	+	A	A		Renal(207;0.0183)	Missense_Mutation	2672			Ig-like 9.			
SPEG	0	broad.mit.edu	GRCh37	2	220344732	220344732	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01	TCGA-76-4935-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312358.7:c.5212C>T	p.Arg1738Trp	p.R1738W	ENST00000312358	NM_005876.4	1738	Cgg/Tgg	0			1			T	R/W	uc010fwg.2	protein_coding	YES	CCDS42824.1			5212/9804									stomach(9)|ovary(4)|central_nervous_system(1)	14	c.(5212-5214)CGG>TGG			PROSITE_profiles:PS50011,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	SPEG complex locus				ENSP00000311684		25/41									COSM1240301	25/41	.		ENST00000312358	Transcript	1		muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	ENSG00000072195	g.chr2:220344732C>T	16901			MODERATE		2.36	medium	getma.org/?cm=msa&ty=f&p=SPEG_HUMAN&rb=1601&re=1854&var=R1738W	getma.org/pdb.php?prot=SPEG_HUMAN&from=1601&to=1854&var=R1738W	getma.org/?cm=var&var=hg19,2,220344732,C,T&fts=all	R1738W	--	--	1																																			1	1		probably_damaging(0.997)	p.R1738W	NM_005876	NP_005867			1	SPEG_HUMAN	SPEG	HGNC	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	B9A038_HUMAN		25	5212	+		Renal(207;0.0183)	UPI000066D99E	1738			Protein kinase 1.		SNV	SPEG,missense_variant,p.Arg1738Trp,ENST00000312358,NM_005876.4;AC053503.11,downstream_gene_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;	uc010fwg.2	c.5212C>T	5344/10782	2	2			c.5212C>T						2	SNP	c.(5212-5214)CGG>TGG	20	20			stomach(9)|ovary(4)|central_nervous_system(1)	14	Broad	SPEG complex locus			220344732		0.572	ENSG00000072195	14805	g.chr2:220344732C>T	muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			482			482	8.6326	KEEP	9	3	-1	54	50	9	3	-1	20.482603	54	50	0.1125	1	0	0	0	0	1	0	0	0	--	--		0	T				273	GBM-76-4935-TP	p.R1738W	C	GCAGCAGGTGCGGATCTGTGA	NM_005876	NP_005867	220344732	Q15772	SPEG_HUMAN	0		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	25	5212	+	T	T		Renal(207;0.0183)	Missense_Mutation	1738			Protein kinase 1.			
SPEN	23013	broad.mit.edu	GRCh37	1	16255142	16255143	+	frameshift_variant	Frame_Shift_Del	DEL	GA	GA	-			TCGA-06-2570-01	TCGA-06-2570-01	GA	GA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375759.3:c.2417_2418del	p.Arg806ThrfsTer14	p.R806Tfs*14	ENST00000375759	NM_015001.2	803	GAg/g	0			1			-	E/X	uc001axk.1	protein_coding	YES	CCDS164.1			2407-2408/10995									ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15	c.(2407-2409)GAGfs			hmmpanther:PTHR23189:SF9,hmmpanther:PTHR23189	spen homolog, transcriptional regulator				ENSP00000364912		15-Nov	0.000181	0.000195		0.000116		0.000241		0.000121	rs764595221,COSM898720	15-Nov	.		ENST00000375759	Transcript			interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	ENSG00000065526	g.chr1:16255142_16255143delGA	17575	10		HIGH								--	--	1																																		SPEN_uc010obp.1_Frame_Shift_Del_p.E762fs	0,1	1			p.E803fs	NM_015001	NP_055816			0,1	MINT_HUMAN	SPEN	HGNC	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)			11	2611_2612	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	UPI000006FF0C	803			Arg-rich.		deletion	SPEN,frameshift_variant,p.Arg806ThrfsTer14,ENST00000375759,NM_015001.2;	uc001axk.1	c.2407_2408delGA	2611-2612/12232	5	5			c.2407_2408delGA						1	DEL	c.(2407-2409)GAGfs	64	64			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15	Broad	spen homolog, transcriptional regulator			16255143		0.431	ENSG00000065526	14807	g.chr1:16255142_16255143delGA	interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			551			551														0.03	1	1	0	1	0	0	0	0	0	--	--		0	-			SPEN_uc010obp.1_Frame_Shift_Del_p.E762fs	91	GBM-06-2570-TP	p.E803fs	GA	GGAGAGAGTGGAGAGAGAGAGA	NM_015001	NP_055816	16255142	Q96T58	MINT_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	2611_2612	+	-	-		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	Frame_Shift_Del	803			Arg-rich.			
SPEN	0	broad.mit.edu	GRCh37	1	16255142	16255143	+	frameshift_variant	Frame_Shift_Del	DEL	GA	GA	-			TCGA-26-1439-01	TCGA-26-1439-01	GA	GA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375759.3:c.2417_2418delGA	p.Arg806ThrfsTer14	p.R806Tfs*14	ENST00000375759	NM_015001.2	803	GAg/g	0			1			-	E/X	uc001axk.1	protein_coding	YES	CCDS164.1			2407-2408/10995									ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15	c.(2407-2409)GAGfs			hmmpanther:PTHR23189:SF9,hmmpanther:PTHR23189	spen homolog, transcriptional regulator				ENSP00000364912		15-Nov	0.000181	0.000195		0.000116		0.000241		0.000121	rs764595221,COSM898720	15-Nov	.		ENST00000375759	Transcript			interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	ENSG00000065526	g.chr1:16255142_16255143delGA	17575	10		HIGH								--	--	1																																		SPEN_uc010obp.1_Frame_Shift_Del_p.E762fs	0,1	1			p.E803fs	NM_015001	NP_055816			0,1	MINT_HUMAN	SPEN	HGNC	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)			11	2611_2612	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	UPI000006FF0C	803			Arg-rich.		deletion	SPEN,frameshift_variant,p.Arg806ThrfsTer14,ENST00000375759,NM_015001.2;	uc001axk.1	c.2407_2408delGA	2611-2612/12232	5	5			c.2407_2408delGA						1	DEL	c.(2407-2409)GAGfs	64	64			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15	Broad	spen homolog, transcriptional regulator			16255143		0.431	ENSG00000065526	14807	g.chr1:16255142_16255143delGA	interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			551			551														0.04	1	1	0	1	0	0	0	0	0	--	--		0	-			SPEN_uc010obp.1_Frame_Shift_Del_p.E762fs	179	GBM-26-1439-TP	p.E803fs	GA	GGAGAGAGTGGAGAGAGAGAGA	NM_015001	NP_055816	16255142	Q96T58	MINT_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	2611_2612	+	-	-		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	Frame_Shift_Del	803			Arg-rich.			
SPEN	0	broad.mit.edu	GRCh37	1	16260498	16260498	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-2494-01	TCGA-32-2494-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375759.3:c.7763C>G	p.Pro2588Arg	p.P2588R	ENST00000375759	NM_015001.2	2588	cCt/cGt	0			1			G	P/R	uc001axk.1	protein_coding	YES	CCDS164.1			7763/10995									ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15	c.(7762-7764)CCT>CGT			hmmpanther:PTHR23189:SF9,hmmpanther:PTHR23189	spen homolog, transcriptional regulator				ENSP00000364912		15-Nov									COSM3399932	15-Nov	.		ENST00000375759	Transcript			interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	ENSG00000065526	g.chr1:16260498C>G	17575			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=MINT_HUMAN&rb=2201&re=2707&var=P2588R	NA	getma.org/?cm=var&var=hg19,1,16260498,C,G&fts=all	P2588R	--	--	1																																		SPEN_uc010obp.1_Missense_Mutation_p.P2547R	1	1		benign(0.021)	p.P2588R	NM_015001	NP_055816			1	MINT_HUMAN	SPEN	HGNC	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)			11	7967	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	UPI000006FF0C	2588			RID.		SNV	SPEN,missense_variant,p.Pro2588Arg,ENST00000375759,NM_015001.2;SPEN,upstream_gene_variant,,ENST00000487496,;	uc001axk.1	c.7763C>G	7967/12232	3	3			c.7763C>G						1	SNP	c.(7762-7764)CCT>CGT	53	53			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15	Broad	spen homolog, transcriptional regulator			16260498		0.522	ENSG00000065526	14807	g.chr1:16260498C>G	interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			551			551	-47.233379	KEEP	3	0	-1	100	122	3	0	-1	6.466574	100	122	0.014925	1	0	0	0	0	1	0	0	0	--	--		0	G			SPEN_uc010obp.1_Missense_Mutation_p.P2547R	236	GBM-32-2494-TP	p.P2588R	C	AAAACAGCACCTCCAGTGACA	NM_015001	NP_055816	16260498	Q96T58	MINT_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	7967	+	G	G		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	2588			RID.			
SPEN	23013		GRCh37	1	16199442	16199442	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000375759.3:c.215G>C	p.Arg72Thr	p.R72T	ENST00000375759	NM_015001.2	72	aGa/aCa	0																																																																																																																																																																																																																																												
SPEN	23013		GRCh37	1	16260992	16260992	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000375759.3:c.8257G>A	p.Val2753Ile	p.V2753I	ENST00000375759	NM_015001.2	2753	Gta/Ata	0																																																																																																																																																																																																																																												
SPERT	220082	broad.mit.edu	GRCh37	13	46287387	46287387	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310521.1:c.227C>T	p.Ala76Val	p.A76V	ENST00000310521	NM_152719.1	76	gCc/gTc	0			1			T	A/V	uc001van.1	protein_coding	YES	CCDS9399.1			227/1347									central_nervous_system(1)|pancreas(1)	2	c.(226-228)GCC>GTC			hmmpanther:PTHR21533,hmmpanther:PTHR21533:SF13	spermatid associated				ENSP00000309189		3-Mar									COSM3399379	3-Mar	.		ENST00000310521	Transcript				cytoplasmic membrane-bounded vesicle		ENSG00000174015	g.chr13:46287387C>T	30720			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=SPERT_HUMAN&rb=1&re=150&var=A76V	NA	getma.org/?cm=var&var=hg19,13,46287387,C,T&fts=all	A76V	--	--	1																																		SPERT_uc001vao.2_Missense_Mutation_p.A40V	1	1		benign(0.318)	p.A76V	NM_152719	NP_689932		deleterious_low_confidence(0.01)	1	SPERT_HUMAN	SPERT	HGNC	Q8NA61	SPERT_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)			3	307	+		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	UPI0000070F5F	76					SNV	SPERT,missense_variant,p.Ala40Val,ENST00000378966,NM_001286342.1;SPERT,missense_variant,p.Ala76Val,ENST00000310521,NM_152719.1;SPERT,missense_variant,p.Ala49Val,ENST00000533564,;	uc001van.1	c.227C>T	307/1613	1	1			c.227C>T						13	SNP	c.(226-228)GCC>GTC	11	11			central_nervous_system(1)|pancreas(1)	2	Broad	spermatid associated			46287387		0.662	ENSG00000174015	14808	g.chr13:46287387C>T		cytoplasmic membrane-bounded vesicle								25.82144	KEEP	8	8	-1	32	40	8	8	-1	33.346471	32	40	0.179487	1	0	0	0	0	1	0	0	0	--	--		0	T			SPERT_uc001vao.2_Missense_Mutation_p.A40V	65	GBM-06-0743-TP	p.A76V	C	CAGCAGGCCGCCCTGCCCCGG	NM_152719	NP_689932	46287387	Q8NA61	SPERT_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	3	307	+	T	T		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	Missense_Mutation	76						
SPG11	0	broad.mit.edu	GRCh37	15	44858195	44858195	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5209-01	TCGA-28-5209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261866.7:c.6856C>T	p.Arg2286Ter	p.R2286*	ENST00000261866	NM_025137.3	2286	Cga/Tga	0		A:0	1	A:0		A	R/*	uc001ztx.2	protein_coding	YES	CCDS10112.1			6856/7332						pathogenic			ovary(4)|skin(1)	5	c.(6856-6858)CGA>TGA			hmmpanther:PTHR13650,Pfam_domain:PF14649	spatacsin isoform 1		A:0		ENSP00000261866	A:0	38/40	1.65E-05					1.51E-05		6.13E-05	rs312262785,COSM962113	38/40	.		ENST00000261866	Transcript	1	A:0.0002	cell death	cytosol|integral to membrane|nucleus	protein binding	ENSG00000104133	g.chr15:44858195G>A	11226			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,15,44858195,G,A&fts=all	R2286*	--	--	1																																		SPG11_uc010bdw.2_Nonsense_Mutation_p.R416*|SPG11_uc010ueh.1_Nonsense_Mutation_p.R2173*|SPG11_uc010uei.1_Intron	1,1	1	19105190		p.R2286*	NM_025137	NP_079413	A:0.001		0,1	SPTCS_HUMAN	SPG11	HGNC	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	H0YN96_HUMAN,C4B7M3_HUMAN		38	6887	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	UPI0000456840	2286			Extracellular (Potential).		SNV	SPG11,stop_gained,p.Arg2286Ter,ENST00000261866,NM_025137.3;SPG11,stop_gained,p.Arg2173Ter,ENST00000535302,NM_001160227.1;SPG11,stop_gained,p.Arg410Ter,ENST00000559511,;SPG11,stop_gained,p.Arg183Ter,ENST00000558138,;SPG11,intron_variant,,ENST00000427534,;EIF3J,downstream_gene_variant,,ENST00000261868,NM_003758.2;EIF3J,downstream_gene_variant,,ENST00000424492,NM_001284336.1;EIF3J,downstream_gene_variant,,ENST00000535391,NM_001284335.1;SPG11,non_coding_transcript_exon_variant,,ENST00000559347,;SPG11,non_coding_transcript_exon_variant,,ENST00000560299,;EIF3J,downstream_gene_variant,,ENST00000558353,;SPG11,downstream_gene_variant,,ENST00000561268,;SPG11,downstream_gene_variant,,ENST00000559933,;	uc001ztx.2	c.6856C>T	6873/7774	5	2			c.6856C>T						15	SNP	c.(6856-6858)CGA>TGA	17	17			ovary(4)|skin(1)	5	Broad	spatacsin isoform 1			44858195		0.532	ENSG00000104133	14810	g.chr15:44858195G>A	cell death	cytosol|integral to membrane|nucleus	protein binding							81.884633	KEEP	17	17	-1	26	19	17	17	-1	82.497128	26	19	0.4	1	0	0	0	0	0	1	0	0	--	--		0	A			SPG11_uc010bdw.2_Nonsense_Mutation_p.R416*|SPG11_uc010ueh.1_Nonsense_Mutation_p.R2173*|SPG11_uc010uei.1_Intron	218	GBM-28-5209-TP	p.R2286*	G	TGGGCCTGTCGCACACAGGAG	NM_025137	NP_079413	44858195	Q96JI7	SPTCS_HUMAN	0		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	38	6887	-	A	A		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	Nonsense_Mutation	2286			Extracellular (Potential).			
SPG20			GRCh37	13	36909291	36909291	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000451493.1:c.677A>G	p.Asn226Ser	p.N226S	ENST00000451493	NM_001142295.1	226	aAt/aGt	0																																																																																																																																																																																																																																												
SPHK2	0	broad.mit.edu	GRCh37	19	49132916	49132916	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-08-0386-01	TCGA-08-0386-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245222.4:c.1851C>T	p.Gly617=	p.G617=	ENST00000245222	NM_001204158.2	617	ggC/ggT	0			1			T	G	uc002pjr.2	protein_coding	YES	CCDS12727.1			1851/1965									lung(1)	1	c.(1849-1851)GGC>GGT			hmmpanther:PTHR12358,hmmpanther:PTHR12358:SF12,Superfamily_domains:SSF111331	sphingosine kinase 2				ENSP00000245222		7-Jul	8.27E-06							8.05E-05	rs774380668,COSM3404430,COSM3404432,COSM3404431	7-Jul	.		ENST00000245222	Transcript			activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	ENSG00000063176	g.chr19:49132916C>T	18859			LOW								--	--	1																																		SPHK2_uc010xzt.1_Silent_p.G558G|SPHK2_uc002pjs.2_Silent_p.G617G|SPHK2_uc002pjt.2_Silent_p.G411G|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Silent_p.G581G|SPHK2_uc002pjw.2_Silent_p.G679G	0,1,1,1	1			p.G617G	NM_020126	NP_064511			0,1,1,1	SPHK2_HUMAN	SPHK2	HGNC	Q9NRA0	SPHK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	Q8N2M3_HUMAN,M0R0E9_HUMAN,M0QZP3_HUMAN,M0QXX5_HUMAN		7	2217	+		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	UPI0000135E14	617					SNV	SPHK2,synonymous_variant,p.=,ENST00000443164,;SPHK2,synonymous_variant,p.=,ENST00000599029,;SPHK2,synonymous_variant,p.=,ENST00000245222,NM_001204158.2,NM_020126.4,NM_001243876.1;SPHK2,synonymous_variant,p.=,ENST00000598088,NM_001204159.2;SPHK2,synonymous_variant,p.=,ENST00000599748,NM_001204160.2;SPHK2,synonymous_variant,p.=,ENST00000340932,;SPHK2,synonymous_variant,p.=,ENST00000600537,;DBP,downstream_gene_variant,,ENST00000222122,NM_001352.3;DBP,downstream_gene_variant,,ENST00000601104,;SPHK2,downstream_gene_variant,,ENST00000601712,;SPHK2,downstream_gene_variant,,ENST00000593308,;DBP,downstream_gene_variant,,ENST00000593500,;DBP,downstream_gene_variant,,ENST00000599385,;SPHK2,downstream_gene_variant,,ENST00000601704,;SPHK2,downstream_gene_variant,,ENST00000599033,;SPHK2,3_prime_UTR_variant,,ENST00000426514,;SPHK2,intron_variant,,ENST00000597434,;DBP,downstream_gene_variant,,ENST00000594723,;SPHK2,downstream_gene_variant,,ENST00000598574,;	uc002pjr.2	c.1851C>T	2217/2963	1	1			c.1851C>T						19	SNP	c.(1849-1851)GGC>GGT	4	4			lung(1)	1	Broad	sphingosine kinase 2			49132916		0.682	ENSG00000063176	14816	g.chr19:49132916C>T	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity							8.089525	KEEP	3	1	-1	10	8	3	1	-1	9.763352	10	8	0.2	1	0	0	0	0	0	0	1	0	--	--		0	T			SPHK2_uc010xzt.1_Silent_p.G558G|SPHK2_uc002pjs.2_Silent_p.G617G|SPHK2_uc002pjt.2_Silent_p.G411G|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Silent_p.G581G|SPHK2_uc002pjw.2_Silent_p.G679G	116	GBM-08-0386-TP	p.G617G	C	CACCACGCGGCGTGCTCACAG	NM_020126	NP_064511	49132916	Q9NRA0	SPHK2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	7	2217	+	T	T		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	Silent	617						
SPHK2	0	broad.mit.edu	GRCh37	19	49132307	49132307	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-19-5951-01	TCGA-19-5951-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245222.4:c.1242A>C	p.Ser414=	p.S414=	ENST00000245222	NM_001204158.2	414	tcA/tcC	0			1			C	S	uc002pjr.2	protein_coding	YES	CCDS12727.1			1242/1965									lung(1)	1	c.(1240-1242)TCA>TCC			hmmpanther:PTHR12358,hmmpanther:PTHR12358:SF12	sphingosine kinase 2				ENSP00000245222		7-Jul	5.77E-05	0.000208		0.000121	0.000171	3.21E-05			rs778412985,COSM1304867	7-Jul	.		ENST00000245222	Transcript			activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	ENSG00000063176	g.chr19:49132307A>C	18859			LOW								--	--	1																																		SPHK2_uc010xzt.1_Silent_p.S355S|SPHK2_uc002pjs.2_Silent_p.S414S|SPHK2_uc002pjt.2_Silent_p.S208S|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Silent_p.S378S|SPHK2_uc002pjw.2_Silent_p.S476S	0,1	1			p.S414S	NM_020126	NP_064511			0,1	SPHK2_HUMAN	SPHK2	HGNC	Q9NRA0	SPHK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	Q8N2M3_HUMAN,M0R0E9_HUMAN,M0QZP3_HUMAN,M0QXX5_HUMAN		7	1608	+		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	UPI0000135E14	414					SNV	SPHK2,synonymous_variant,p.=,ENST00000443164,;SPHK2,synonymous_variant,p.=,ENST00000599029,;SPHK2,synonymous_variant,p.=,ENST00000245222,NM_001204158.2,NM_020126.4,NM_001243876.1;SPHK2,synonymous_variant,p.=,ENST00000598088,NM_001204159.2;SPHK2,synonymous_variant,p.=,ENST00000599748,NM_001204160.2;SPHK2,synonymous_variant,p.=,ENST00000340932,;SPHK2,synonymous_variant,p.=,ENST00000600537,;DBP,downstream_gene_variant,,ENST00000222122,NM_001352.3;DBP,downstream_gene_variant,,ENST00000601104,;SPHK2,downstream_gene_variant,,ENST00000601712,;SPHK2,downstream_gene_variant,,ENST00000593308,;DBP,downstream_gene_variant,,ENST00000593500,;DBP,downstream_gene_variant,,ENST00000599385,;SPHK2,downstream_gene_variant,,ENST00000601704,;AC022154.7,upstream_gene_variant,,ENST00000594850,;SPHK2,downstream_gene_variant,,ENST00000599033,;SPHK2,3_prime_UTR_variant,,ENST00000426514,;SPHK2,intron_variant,,ENST00000597434,;DBP,downstream_gene_variant,,ENST00000594723,;SPHK2,downstream_gene_variant,,ENST00000598574,;	uc002pjr.2	c.1242A>C	1608/2963	4	4			c.1242A>C						19	SNP	c.(1240-1242)TCA>TCC	45	45			lung(1)	1	Broad	sphingosine kinase 2			49132307		0.338	ENSG00000063176	14816	g.chr19:49132307A>C	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity							4.084983	KEEP	0	5	-1	6	13	0	5	-1	6.401457	6	13	0.173913	1	0	0	0	0	0	0	1	0	--	--		0	C			SPHK2_uc010xzt.1_Silent_p.S355S|SPHK2_uc002pjs.2_Silent_p.S414S|SPHK2_uc002pjt.2_Silent_p.S208S|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Silent_p.S378S|SPHK2_uc002pjw.2_Silent_p.S476S	171	GBM-19-5951-TP	p.S414S	A	tggcccactcacccctgcatc	NM_020126	NP_064511	49132307	Q9NRA0	SPHK2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	7	1608	+	C	C		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	Silent	414						
SPHKAP	80309	broad.mit.edu	GRCh37	2	228884217	228884217	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5414-01	TCGA-06-5414-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392056.3:c.1353C>T	p.Val451=	p.V451=	ENST00000392056	NM_001142644.1	451	gtC/gtT	0			1			A	V	uc002vpq.2	protein_coding	YES	CCDS46537.1			1353/5103									skin(5)|ovary(4)|lung(1)	10	c.(1351-1353)GTC>GTT			hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF7	sphingosine kinase type 1-interacting protein				ENSP00000375909		12-Jul	1.65E-05			0.000116		1.50E-05			rs770168432,COSM3047826,COSM3047825	12-Jul	.		ENST00000392056	Transcript				cytoplasm	protein binding	ENSG00000153820	g.chr2:228884217G>A	30619			LOW								--	--	1																																		SPHKAP_uc002vpp.2_Silent_p.V451V|SPHKAP_uc010zlx.1_Silent_p.V451V	0,1,1	1			p.V451V	NM_001142644	NP_001136116			0,1,1	SPKAP_HUMAN	SPHKAP	HGNC	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)			7	1400	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	UPI0000411D7E	451					SNV	SPHKAP,synonymous_variant,p.=,ENST00000392056,NM_001142644.1;SPHKAP,synonymous_variant,p.=,ENST00000344657,NM_030623.3;	uc002vpq.2	c.1353C>T	1400/6917	1	1			c.1353C>T						2	SNP	c.(1351-1353)GTC>GTT	49	49			skin(5)|ovary(4)|lung(1)	10	Broad	sphingosine kinase type 1-interacting protein			228884217		0.507	ENSG00000153820	14817	g.chr2:228884217G>A		cytoplasm	protein binding							130.777148	KEEP	27	24	-1	50	57	27	24	-1	134.000352	50	57	0.338129	1	0	0	0	0	0	0	1	0	--	--		0	A			SPHKAP_uc002vpp.2_Silent_p.V451V|SPHKAP_uc010zlx.1_Silent_p.V451V	97	GBM-06-5414-TP	p.V451V	G	TCTGAACAACGACGATTTTGG	NM_001142644	NP_001136116	228884217	Q2M3C7	SPKAP_HUMAN	0		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	1400	-	A	A		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	Silent	451						
SPHKAP	0	broad.mit.edu	GRCh37	2	228856023	228856023	+	stop_gained	Nonsense_Mutation	SNP	T	T	A			TCGA-27-2518-01	TCGA-27-2518-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392056.3:c.4741A>T	p.Lys1581Ter	p.K1581*	ENST00000392056	NM_001142644.1	1581	Aag/Tag	0			1			A	K/*	uc002vpq.2	protein_coding	YES	CCDS46537.1			4741/5103									skin(5)|ovary(4)|lung(1)	10	c.(4741-4743)AAG>TAG			hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF7	sphingosine kinase type 1-interacting protein				ENSP00000375909		12-Oct									COSM3407637,COSM3407636	12-Oct	.		ENST00000392056	Transcript				cytoplasm	protein binding	ENSG00000153820	g.chr2:228856023T>A	30619			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,228856023,T,A&fts=all	K1581*	--	--	1																																		SPHKAP_uc002vpp.2_Nonsense_Mutation_p.K1552*|SPHKAP_uc010zlx.1_Intron	1,1	1			p.K1581*	NM_001142644	NP_001136116			1,1	SPKAP_HUMAN	SPHKAP	HGNC	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)			10	4788	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	UPI0000411D7E	1581					SNV	SPHKAP,stop_gained,p.Lys1581Ter,ENST00000392056,NM_001142644.1;SPHKAP,stop_gained,p.Lys1552Ter,ENST00000344657,NM_030623.3;SPHKAP,non_coding_transcript_exon_variant,,ENST00000490603,;	uc002vpq.2	c.4741A>T	4788/6917	5	2			c.4741A>T						2	SNP	c.(4741-4743)AAG>TAG	28	28			skin(5)|ovary(4)|lung(1)	10	Broad	sphingosine kinase type 1-interacting protein			228856023		0.403	ENSG00000153820	14817	g.chr2:228856023T>A		cytoplasm	protein binding							-1.725643	KEEP	11	10	-1	104	135	11	10	-1	37.712352	104	135	0.081448	1	0	0	0	0	0	1	0	0	--	--		0	A			SPHKAP_uc002vpp.2_Nonsense_Mutation_p.K1552*|SPHKAP_uc010zlx.1_Intron	198	GBM-27-2518-TP	p.K1581*	T	TTAAGAATCTTCTTTTCTTCT	NM_001142644	NP_001136116	228856023	Q2M3C7	SPKAP_HUMAN	0		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	10	4788	-	A	A		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	Nonsense_Mutation	1581						
SPHKAP	0	broad.mit.edu	GRCh37	2	228882884	228882884	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5220-01	TCGA-28-5220-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392056.3:c.2686G>A	p.Glu896Lys	p.E896K	ENST00000392056	NM_001142644.1	896	Gaa/Aaa	0			1			T	E/K	uc002vpq.2	protein_coding	YES	CCDS46537.1			2686/5103									skin(5)|ovary(4)|lung(1)	10	c.(2686-2688)GAA>AAA			hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF7	sphingosine kinase type 1-interacting protein				ENSP00000375909		12-Jul	8.24E-06					1.50E-05			rs754224869,COSM3047730,COSM3047729	12-Jul	.		ENST00000392056	Transcript				cytoplasm	protein binding	ENSG00000153820	g.chr2:228882884C>T	30619			MODERATE		2.34	medium	getma.org/?cm=msa&ty=f&p=SPKAP_HUMAN&rb=801&re=1000&var=E896K	NA	getma.org/?cm=var&var=hg19,2,228882884,C,T&fts=all	E896K	--	--	1																																		SPHKAP_uc002vpp.2_Missense_Mutation_p.E896K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E896K	0,1,1	1		possibly_damaging(0.449)	p.E896K	NM_001142644	NP_001136116		deleterious(0.01)	0,1,1	SPKAP_HUMAN	SPHKAP	HGNC	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)			7	2733	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	UPI0000411D7E	896					SNV	SPHKAP,missense_variant,p.Glu896Lys,ENST00000392056,NM_001142644.1;SPHKAP,missense_variant,p.Glu896Lys,ENST00000344657,NM_030623.3;	uc002vpq.2	c.2686G>A	2733/6917	1	1			c.2686G>A						2	SNP	c.(2686-2688)GAA>AAA	15	15			skin(5)|ovary(4)|lung(1)	10	Broad	sphingosine kinase type 1-interacting protein			228882884		0.502	ENSG00000153820	14817	g.chr2:228882884C>T		cytoplasm	protein binding							1141.969744	KEEP	226	166	-1	260	256	226	166	-1	1145.737991	260	256	0.429714	1	0	0	0	0	1	0	0	0	--	--		0	T			SPHKAP_uc002vpp.2_Missense_Mutation_p.E896K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E896K	226	GBM-28-5220-TP	p.E896K	C	ACTTGAACTTCGTTGATGCGA	NM_001142644	NP_001136116	228882884	Q2M3C7	SPKAP_HUMAN	0		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2733	-	T	T		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	Missense_Mutation	896						
SPHKAP	0	broad.mit.edu	GRCh37	2	228883868	228883868	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149295795	by1000genomes	TCGA-32-2632-01	TCGA-32-2632-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392056.3:c.1702G>A	p.Val568Met	p.V568M	ENST00000392056	NM_001142644.1	568	Gtg/Atg	0	T:0	T:0	1	T:0		T	V/M	uc002vpq.2	protein_coding	YES	CCDS46537.1			1702/5103									skin(5)|ovary(4)|lung(1)	10	c.(1702-1704)GTG>ATG			hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF7	sphingosine kinase type 1-interacting protein		T:0.0079	T:0.0001	ENSP00000375909	T:0	12-Jul	0.000593			0.00568		0.000335		6.06E-05	rs149295795,COSM362104,COSM362103	12-Jul	common_variant		ENST00000392056	Transcript		T:0.0018		cytoplasm	protein binding	ENSG00000153820	g.chr2:228883868C>T	30619			MODERATE		2.095	medium	getma.org/?cm=msa&ty=f&p=SPKAP_HUMAN&rb=401&re=600&var=V568M	NA	getma.org/?cm=var&var=hg19,2,228883868,C,T&fts=all	V568M	--	--	1																																		SPHKAP_uc002vpp.2_Missense_Mutation_p.V568M|SPHKAP_uc010zlx.1_Missense_Mutation_p.V568M	0,1,1	1		probably_damaging(0.962)	p.V568M	NM_001142644	NP_001136116	T:0.001	deleterious(0)	0,1,1	SPKAP_HUMAN	SPHKAP	HGNC	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)			7	1749	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	UPI0000411D7E	568					SNV	SPHKAP,missense_variant,p.Val568Met,ENST00000392056,NM_001142644.1;SPHKAP,missense_variant,p.Val568Met,ENST00000344657,NM_030623.3;	uc002vpq.2	c.1702G>A	1749/6917	2	2			c.1702G>A						2	SNP	c.(1702-1704)GTG>ATG	17	17			skin(5)|ovary(4)|lung(1)	10	Broad	sphingosine kinase type 1-interacting protein			228883868		0.562	ENSG00000153820	14817	g.chr2:228883868C>T		cytoplasm	protein binding							66.717645	KEEP	15	23	-1	94	92	15	23	-1	86.033042	94	92	0.175258	1	0	0	0	0	1	0	0	0	--	--		0	T			SPHKAP_uc002vpp.2_Missense_Mutation_p.V568M|SPHKAP_uc010zlx.1_Missense_Mutation_p.V568M	240	GBM-32-2632-TP	p.V568M	C	CAGACAGCCACGGCACTGGCC	NM_001142644	NP_001136116	228883868	Q2M3C7	SPKAP_HUMAN	0		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	1749	-	T	T		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	Missense_Mutation	568						
SPIB	6689	broad.mit.edu	GRCh37	19	50926144	50926144	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0122-01	TCGA-06-0122-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000595883.1:c.189G>A	p.Pro63=	p.P63=	ENST00000595883	NM_001244000.1	63	ccG/ccA	0			1			A	P	uc002psd.2	protein_coding	YES	CCDS33080.1			189/789									lung(1)|kidney(1)	2	c.(187-189)CCG>CCA			hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF174,Low_complexity_(Seg):seg	Spi-B transcription factor (Spi-1/PU.1 related)				ENSP00000471921		6-Apr	8.24E-06		8.67E-05						rs765824495,COSM2149211	6-Apr	.		ENST00000595883	Transcript	1		regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding	ENSG00000269404	g.chr19:50926144G>A	11242			LOW								--	--	1																																		SPIB_uc002pse.2_Silent_p.P63P|SPIB_uc010ycc.1_Intron	0,1	1			p.P63P	NM_003121	NP_003112			0,1	SPIB_HUMAN	SPIB	HGNC	Q01892	SPIB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)			4	214	+		all_neural(266;0.131)	UPI0000135E36	63					SNV	SPIB,missense_variant,p.Arg81Gln,ENST00000594685,;SPIB,synonymous_variant,p.=,ENST00000595883,NM_001244000.1,NM_003121.4,NM_001243999.1;SPIB,synonymous_variant,p.=,ENST00000270632,;CTD-2545M3.6,synonymous_variant,p.=,ENST00000599632,;SPIB,synonymous_variant,p.=,ENST00000597855,;SPIB,intron_variant,,ENST00000439922,NM_001243998.1;SPIB,intron_variant,,ENST00000596074,;POLD1,downstream_gene_variant,,ENST00000440232,NM_002691.3,NM_001256849.1;POLD1,downstream_gene_variant,,ENST00000599857,;POLD1,downstream_gene_variant,,ENST00000595904,;POLD1,downstream_gene_variant,,ENST00000593981,;SPIB,non_coding_transcript_exon_variant,,ENST00000599923,;SPIB,non_coding_transcript_exon_variant,,ENST00000594188,;POLD1,downstream_gene_variant,,ENST00000600859,;POLD1,downstream_gene_variant,,ENST00000597963,;POLD1,downstream_gene_variant,,ENST00000596221,;	uc002psd.2	c.189G>A	214/3791	2	2			c.189G>A						19	SNP	c.(187-189)CCG>CCA	19	19			lung(1)|kidney(1)	2	Broad	Spi-B transcription factor (Spi-1/PU.1 related)			50926144		0.662	ENSG00000269404	14819	g.chr19:50926144G>A	regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding							42.039897	KEEP	16	17	-1	41	49	16	17	-1	48.345978	41	49	0.214286	1	0	0	0	0	0	0	1	0	--	--		0	A			SPIB_uc002pse.2_Silent_p.P63P|SPIB_uc010ycc.1_Intron	10	GBM-06-0122-TP	p.P63P	G	CCTTCGACCCGGCAGCAGCCG	NM_003121	NP_003112	50926144	Q01892	SPIB_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	4	214	+	A	A		all_neural(266;0.131)	Silent	63						
SPIC	121599		GRCh37	12	101880531	101880531	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000551346.1:c.729A>G	p.Leu243=	p.L243=	ENST00000551346		243	ctA/ctG	0																																																																																																																																																																																																																																												
SPICE1	152185	broad.mit.edu	GRCh37	3	113169336	113169336	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-1804-01	TCGA-06-1804-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295872.4:c.2170C>A	p.Pro724Thr	p.P724T	ENST00000295872	NM_144718.3	724	Cca/Aca	0			1			T	P/T	uc003eag.3	protein_coding	YES	CCDS2973.1			2170/2568										0	c.(2170-2172)CCA>ACA			hmmpanther:PTHR31167,hmmpanther:PTHR31167:SF2	coiled-coil domain containing 52				ENSP00000295872		15/18									COSM3408144,COSM3408143	15/18	.		ENST00000295872	Transcript			cell division|mitosis	centriole|spindle	protein binding	ENSG00000163611	g.chr3:113169336G>T	25083			MODERATE		2.135	medium	getma.org/?cm=msa&ty=f&p=SPICE_HUMAN&rb=518&re=853&var=P724T	NA	getma.org/?cm=var&var=hg19,3,113169336,G,T&fts=all	P724T	--	--	1																																		CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Missense_Mutation_p.P620T	1,1	1		possibly_damaging(0.628)	p.P724T	NM_144718	NP_653319		tolerated(0.07)	1,1	SPICE_HUMAN	SPICE1	HGNC	Q8N0Z3	SPICE_HUMAN			C9J5T2_HUMAN,C9J4W3_HUMAN,C9IZF0_HUMAN		15	2461	-			UPI000007328D	724					SNV	SPICE1,missense_variant,p.Pro724Thr,ENST00000295872,NM_144718.3;SPICE1,intron_variant,,ENST00000467618,;SPICE1,non_coding_transcript_exon_variant,,ENST00000496105,;	uc003eag.3	c.2170C>A	2430/5417	1	1			c.2170C>A						3	SNP	c.(2170-2172)CCA>ACA	1	1				0	Broad	coiled-coil domain containing 52			113169336		0.373	ENSG00000163611	2771	g.chr3:113169336G>T	cell division|mitosis	centriole|spindle	protein binding							-14.390134	KEEP	1	3	0.25	52	59	1	3	0.25	8.138639	52	59	0.040404	1	0	0	0	0	1	0	0	0	--	--		0	T			CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Missense_Mutation_p.P620T	79	GBM-06-1804-TP	p.P724T	G	ATACTACCTGGTGTTAGAGAC	NM_144718	NP_653319	113169336	Q8N0Z3	SPICE_HUMAN	0			15	2461	-	T	T			Missense_Mutation	724						
SPIN2B	0	broad.mit.edu	GRCh37	X	57146697	57146697	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-1837-01	TCGA-27-1837-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275988.5:c.366C>T	p.Ala122=	p.A122=	ENST00000275988		122	gcC/gcT	0			1			A	A	uc004duy.2	protein_coding		CCDS35311.1			366/777										0	c.(364-366)GCC>GCT			hmmpanther:PTHR10405,hmmpanther:PTHR10405:SF17	spindlin-like protein 2				ENSP00000275988		2-Feb									COSM3406509	2-Feb	.		ENST00000275988	Transcript			apoptosis|cell cycle|gamete generation	nucleus		ENSG00000186787	g.chrX:57146697G>A	33147			LOW								--	--	1																																		SPIN2B_uc004duz.2_Silent_p.A122A|SPIN2B_uc004dva.2_Silent_p.A122A|uc011mor.1_RNA	1				p.A122A	NM_001006682	NP_001006683			1	SPI2B_HUMAN	SPIN2B	HGNC	Q9BPZ2	SPI2B_HUMAN			Q5JZB8_HUMAN		2	625	-			UPI0000135E52	122					SNV	SPIN2B,synonymous_variant,p.=,ENST00000333933,NM_001006681.1;SPIN2B,synonymous_variant,p.=,ENST00000374912,NM_001006683.1,NM_001006682.1;SPIN2B,synonymous_variant,p.=,ENST00000275988,;SPIN2B,synonymous_variant,p.=,ENST00000434397,;SPIN2B,intron_variant,,ENST00000374910,NM_001282462.1,NM_001282461.1;RP3-323P24.3,upstream_gene_variant,,ENST00000439622,;SPIN2B,intron_variant,,ENST00000460948,;	uc004duy.2	c.366C>T	570/1152	2	2			c.366C>T						23	SNP	c.(364-366)GCC>GCT	34	34				0	Broad	spindlin-like protein 2			57146697		0.433	ENSG00000186787	14823	g.chrX:57146697G>A	apoptosis|cell cycle|gamete generation	nucleus								313.357277	KEEP	61	103	-1	45	43	61	103	-1	323.395225	45	43	0.8	1	0	0	0	0	0	0	1	0	--	--		0	A			SPIN2B_uc004duz.2_Silent_p.A122A|SPIN2B_uc004dva.2_Silent_p.A122A|uc011mor.1_RNA	196	GBM-27-1837-TP	p.A122A	G	TTGCAAGGTTGGCATCACTAA	NM_001006682	NP_001006683	57146697	Q9BPZ2	SPI2B_HUMAN	0			2	625	-	A	A			Silent	122						
SPIN3	0	broad.mit.edu	GRCh37	X	57021377	57021377	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-32-4211-01	TCGA-32-4211-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374919.3:c.4A>C	p.Lys2Gln	p.K2Q	ENST00000374919	NM_001010862.2	2	Aag/Cag	0			1			G	K/Q	uc010nkj.2	protein_coding	YES	CCDS43963.1			4/777									ovary(1)|central_nervous_system(1)	2	c.(4-6)AAG>CAG				spindlin family, member 3				ENSP00000364054		2-Feb									COSM3406508,COSM3406507	2-Feb	.		ENST00000374919	Transcript			gamete generation			ENSG00000204271	g.chrX:57021377T>G	27272			MODERATE		2.135	medium	getma.org/?cm=msa&ty=f&p=SPIN3_HUMAN&rb=1&re=49&var=K2Q	NA	getma.org/?cm=var&var=hg19,X,57021377,T,G&fts=all	K2Q	--	--	1																																		SPIN3_uc004duu.3_RNA|SPIN3_uc004duw.3_RNA|SPIN3_uc004duv.3_RNA|SPIN3_uc004dux.1_Missense_Mutation_p.K2Q	1,1	1		probably_damaging(0.996)	p.K2Q	NM_001010862	NP_001010862		deleterious(0.01)	1,1	SPIN3_HUMAN	SPIN3	HGNC	Q5JUX0	SPIN3_HUMAN					2	290	-			UPI00001D7BBB	2					SNV	SPIN3,missense_variant,p.Lys2Gln,ENST00000374919,NM_001010862.2;SPIN3,missense_variant,p.Lys2Gln,ENST00000475785,;SPIN3,missense_variant,p.Lys2Gln,ENST00000478405,;	uc010nkj.2	c.4A>C	327/1100	4	4			c.4A>C						23	SNP	c.(4-6)AAG>CAG	30	30			ovary(1)|central_nervous_system(1)	2	Broad	spindlin family, member 3			57021377		0.537	ENSG00000204271	14824	g.chrX:57021377T>G	gamete generation									1.431962	KEEP	2	0	-1	16	16	2	0	-1	6.725891	16	16	0.071429	1	0	0	0	0	1	0	0	0	--	--		0	G			SPIN3_uc004duu.3_RNA|SPIN3_uc004duw.3_RNA|SPIN3_uc004duv.3_RNA|SPIN3_uc004dux.1_Missense_Mutation_p.K2Q	246	GBM-32-4211-TP	p.K2Q	T	AACGGGGTCTTCATGCCTGCG	NM_001010862	NP_001010862	57021377	Q5JUX0	SPIN3_HUMAN	0			2	290	-	G	G			Missense_Mutation	2						
SPINK6	404203	broad.mit.edu	GRCh37	5	147585617	147585617	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01	TCGA-06-2565-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325630.2:c.77G>A	p.Gly26Glu	p.G26E	ENST00000325630	NM_205841.3	26	gGa/gAa	0			1			A	G/E	uc003lpa.2	protein_coding	YES	CCDS34268.1			77/243									ovary(1)	1	c.(76-78)GGA>GAA			PROSITE_profiles:PS51465,hmmpanther:PTHR10913,hmmpanther:PTHR10913:SF42,Transmembrane_helices:TMhelix	serine protease inhibitor, Kazal type 6				ENSP00000324870		4-Feb									COSM3409972	4-Feb	.		ENST00000325630	Transcript				extracellular region	serine-type endopeptidase inhibitor activity	ENSG00000178172	g.chr5:147585617G>A	29486			MODERATE								--	--	1																																			1	1		benign(0.001)	p.G26E	NM_205841	NP_995313		tolerated(1)	1	ISK6_HUMAN	SPINK6	HGNC	Q6UWN8	ISK6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		D6RGX9_HUMAN		2	333	+			UPI000004BA6C	26			Kazal-like.		SNV	SPINK6,missense_variant,p.Gly26Glu,ENST00000325630,NM_205841.3,NM_001195290.1;SPINK6,missense_variant,p.Gly26Glu,ENST00000514389,;	uc003lpa.2	c.77G>A	333/686	1	1			c.77G>A						5	SNP	c.(76-78)GGA>GAA	59	59			ovary(1)	1	Broad	serine protease inhibitor, Kazal type 6			147585617		0.383	ENSG00000178172	14832	g.chr5:147585617G>A		extracellular region	serine-type endopeptidase inhibitor activity							-76.481993	KEEP	4	4	-1	201	173	4	4	-1	10.50463	201	173	0.02071	1	0	0	0	0	1	0	0	0	--	--		0	A				88	GBM-06-2565-TP	p.G26E	G	AGTCAGGGAGGACAGGTCAGT	NM_205841	NP_995313	147585617	Q6UWN8	ISK6_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	333	+	A	A			Missense_Mutation	26			Kazal-like.			
SPINK9	643394	broad.mit.edu	GRCh37	5	147715209	147715209	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0190-01	TCGA-06-0190-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377906.1:c.33T>C	p.Ala11=	p.A11=	ENST00000377906	NM_001040433.1	11	gcT/gcC	0			1			C	A	uc003lpe.1	protein_coding	YES	CCDS34269.1			33/261										0	c.(31-33)GCT>GCC			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR21312,hmmpanther:PTHR21312:SF25	serine peptidase inhibitor, Kazal type 9				ENSP00000367139		4-Jan									COSM3409973	4-Jan	.		ENST00000377906	Transcript				extracellular region	protein binding|serine-type endopeptidase inhibitor activity	ENSG00000204909	g.chr5:147715209T>C	32951			LOW								--	--	1																																		uc003lpb.1_Intron	1	1			p.A11A	NM_001040433	NP_001035523			1	ISK9_HUMAN	SPINK9	HGNC	Q5DT21	ISK9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	88	+			UPI000004CA7E	11					SNV	SPINK9,synonymous_variant,p.=,ENST00000377906,NM_001040433.1;SPINK9,intron_variant,,ENST00000511717,;RP11-373N22.3,intron_variant,,ENST00000501695,;	uc003lpe.1	c.33T>C	88/453	3	3			c.33T>C						5	SNP	c.(31-33)GCT>GCC	16	16				0	Broad	serine peptidase inhibitor, Kazal type 9			147715209		0.473	ENSG00000204909	14835	g.chr5:147715209T>C		extracellular region	protein binding|serine-type endopeptidase inhibitor activity							-26.101708	KEEP	3	3	-1	106	99	3	3	-1	13.51734	106	99	0.035503	1	0	0	0	0	0	0	1	0	--	--		0	C			uc003lpb.1_Intron	43	GBM-06-0190-TP	p.A11A	T	TACTCTTGGCTCTGACACTTG	NM_001040433	NP_001035523	147715209	Q5DT21	ISK9_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	88	+	C	C			Silent	11						
SPINT1	6692	broad.mit.edu	GRCh37	15	41146113	41146113	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs145193299		TCGA-06-0939-01	TCGA-06-0939-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344051.4:c.947C>T	p.Ala316Val	p.A316V	ENST00000344051		316	gCg/gTg	0	T:0.0002	T:0	1	T:0		T	A/V	uc001zna.2	protein_coding	YES	CCDS10067.1			947/1590									ovary(1)	1	c.(946-948)GCG>GTG			hmmpanther:PTHR10083:SF174,hmmpanther:PTHR10083	serine peptidase inhibitor, Kunitz type 1		T:0	T:0.0005	ENSP00000342098	T:0	11-May	0.000156					0.000135	0.0011	0.000545	rs145193299,COSM2152382	11-May	common_variant		ENST00000344051	Transcript		T:0.0002		extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	ENSG00000166145	g.chr15:41146113C>T	11246			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=SPIT1_HUMAN&rb=302&re=332&var=A316V	NA	getma.org/?cm=var&var=hg19,15,41146113,C,T&fts=all	A316V	--	--	1																																		SPINT1_uc001znb.2_Intron|SPINT1_uc001znc.2_Intron|SPINT1_uc010ucs.1_Missense_Mutation_p.A316V	0,1	1		benign(0)	p.A316V	NM_181642	NP_857593	T:0.001	tolerated(0.67)	0,1	SPIT1_HUMAN	SPINT1	HGNC	O43278	SPIT1_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	H3BTQ8_HUMAN		5	1151	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	UPI00001AE46F	316					SNV	SPINT1,missense_variant,p.Ala316Val,ENST00000344051,;SPINT1,missense_variant,p.Ala276Val,ENST00000568580,;SPINT1,missense_variant,p.Ala34Val,ENST00000569589,;SPINT1,intron_variant,,ENST00000562057,NM_003710.3,NM_181642.2;SPINT1,intron_variant,,ENST00000431806,NM_001032367.1;SPINT1,intron_variant,,ENST00000564375,;SPINT1,intron_variant,,ENST00000566928,;SPINT1,downstream_gene_variant,,ENST00000563656,;SPINT1,downstream_gene_variant,,ENST00000568823,;SPINT1,upstream_gene_variant,,ENST00000563135,;SPINT1,upstream_gene_variant,,ENST00000566642,;SPINT1,upstream_gene_variant,,ENST00000568200,;	uc001zna.2	c.947C>T	1181/3056	2	2			c.947C>T						15	SNP	c.(946-948)GCG>GTG	48	48			ovary(1)	1	Broad	serine peptidase inhibitor, Kunitz type 1			41146113		0.592	ENSG00000166145	14837	g.chr15:41146113C>T		extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity							213.585309	KEEP	37	41	-1	69	98	37	41	-1	220.31963	69	98	0.320675	1	0	0	0	0	1	0	0	0	--	--		0	T			SPINT1_uc001znb.2_Intron|SPINT1_uc001znc.2_Intron|SPINT1_uc010ucs.1_Missense_Mutation_p.A316V	78	GBM-06-0939-TP	p.A316V	C	GGGGCTCAGGCGACTTTCCCC	NM_181642	NP_857593	41146113	O43278	SPIT1_HUMAN	0		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	5	1151	+	T	T		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	Missense_Mutation	316						
SPINT1	0	broad.mit.edu	GRCh37	15	41146113	41146113	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs145193299		TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344051.4:c.947C>T	p.Ala316Val	p.A316V	ENST00000344051		316	gCg/gTg	0	T:0.0002	T:0	1	T:0		T	A/V	uc001zna.2	protein_coding	YES	CCDS10067.1			947/1590									ovary(1)	1	c.(946-948)GCG>GTG			hmmpanther:PTHR10083:SF174,hmmpanther:PTHR10083	serine peptidase inhibitor, Kunitz type 1		T:0	T:0.0005	ENSP00000342098	T:0	11-May	0.000156					0.000135	0.0011	0.000545	rs145193299,COSM2152382	11-May	common_variant		ENST00000344051	Transcript		T:0.0002		extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	ENSG00000166145	g.chr15:41146113C>T	11246			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=SPIT1_HUMAN&rb=302&re=332&var=A316V	NA	getma.org/?cm=var&var=hg19,15,41146113,C,T&fts=all	A316V	--	--	1																																		SPINT1_uc001znb.2_Intron|SPINT1_uc001znc.2_Intron|SPINT1_uc010ucs.1_Missense_Mutation_p.A316V	0,1	1		benign(0)	p.A316V	NM_181642	NP_857593	T:0.001	tolerated(0.67)	0,1	SPIT1_HUMAN	SPINT1	HGNC	O43278	SPIT1_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	H3BTQ8_HUMAN		5	1151	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	UPI00001AE46F	316					SNV	SPINT1,missense_variant,p.Ala316Val,ENST00000344051,;SPINT1,missense_variant,p.Ala276Val,ENST00000568580,;SPINT1,missense_variant,p.Ala34Val,ENST00000569589,;SPINT1,intron_variant,,ENST00000562057,NM_003710.3,NM_181642.2;SPINT1,intron_variant,,ENST00000431806,NM_001032367.1;SPINT1,intron_variant,,ENST00000564375,;SPINT1,intron_variant,,ENST00000566928,;SPINT1,downstream_gene_variant,,ENST00000563656,;SPINT1,downstream_gene_variant,,ENST00000568823,;SPINT1,upstream_gene_variant,,ENST00000563135,;SPINT1,upstream_gene_variant,,ENST00000566642,;SPINT1,upstream_gene_variant,,ENST00000568200,;	uc001zna.2	c.947C>T	1181/3056	2	2			c.947C>T						15	SNP	c.(946-948)GCG>GTG	48	48			ovary(1)	1	Broad	serine peptidase inhibitor, Kunitz type 1			41146113		0.592	ENSG00000166145	14837	g.chr15:41146113C>T		extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity							-12.902908	KEEP	2	4	-1	70	55	2	4	-1	12.272763	70	55	0.050847	1	0	0	0	0	1	0	0	0	--	--		0	T			SPINT1_uc001znb.2_Intron|SPINT1_uc001znc.2_Intron|SPINT1_uc010ucs.1_Missense_Mutation_p.A316V	159	GBM-19-1390-TP	p.A316V	C	GGGGCTCAGGCGACTTTCCCC	NM_181642	NP_857593	41146113	O43278	SPIT1_HUMAN	0		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	5	1151	+	T	T		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	Missense_Mutation	316						
SPINT1	6692		GRCh37	15	41146113	41146113	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000344051.4:c.947C>T	p.Ala316Val	p.A316V	ENST00000344051		316	gCg/gTg	0																																																																																																																																																																																																																																												
SPIRE1	56907	broad.mit.edu	GRCh37	18	12496095	12496095	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0166-01	TCGA-06-0166-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409402.4:c.979G>T	p.Gly327Cys	p.G327C	ENST00000409402	NM_001128626.1	327	Ggt/Tgt	0			1			A	G/C	uc002kre.2	protein_coding	YES	CCDS45829.1			979/2271										0	c.(979-981)GGT>TGT			hmmpanther:PTHR21345,hmmpanther:PTHR21345:SF2	spire homolog 1 isoform a				ENSP00000387266		17-Jul									COSM2150175,COSM2150174	17-Jul	.		ENST00000409402	Transcript				cytoskeleton|perinuclear region of cytoplasm	actin binding	ENSG00000134278	g.chr18:12496095C>A	30622			MODERATE		2.49	medium	getma.org/?cm=msa&ty=f&p=SPIR1_HUMAN&rb=35&re=754&var=G327C	NA	getma.org/?cm=var&var=hg19,18,12496095,C,A&fts=all	G327C	--	--	1																																		SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Missense_Mutation_p.G207C|SPIRE1_uc010wzx.1_Missense_Mutation_p.G130C|SPIRE1_uc010wzy.1_Missense_Mutation_p.G327C	1,1	1		probably_damaging(0.998)	p.G327C	NM_001128626	NP_001122098		deleterious(0)	1,1	SPIR1_HUMAN	SPIRE1	HGNC	Q08AE8	SPIR1_HUMAN			Q96AS4_HUMAN,K7EQR2_HUMAN,C9JYR7_HUMAN		7	1026	-			UPI00001C1FFE	327					SNV	SPIRE1,missense_variant,p.Gly327Cys,ENST00000409402,NM_001128626.1;SPIRE1,missense_variant,p.Gly327Cys,ENST00000410092,NM_020148.2;SPIRE1,missense_variant,p.Gly207Cys,ENST00000453447,NM_001128627.1;SPIRE1,missense_variant,p.Gly168Cys,ENST00000383356,;SPIRE1,missense_variant,p.Gly130Cys,ENST00000309836,;SPIRE1,non_coding_transcript_exon_variant,,ENST00000487491,;SPIRE1,upstream_gene_variant,,ENST00000464481,;SPIRE1,missense_variant,p.Gly168Cys,ENST00000440472,;SPIRE1,missense_variant,p.Gly18Cys,ENST00000592156,;	uc002kre.2	c.979G>T	1247/5665	1	1			c.979G>T						18	SNP	c.(979-981)GGT>TGT	49	49				0	Broad	spire homolog 1 isoform a			12496095		0.358	ENSG00000134278	14840	g.chr18:12496095C>A		cytoskeleton|perinuclear region of cytoplasm	actin binding							54.228904	KEEP	10	13	0.565217391	34	41	10	13	0.565217391	59.359165	34	41	0.244186	1	0	0	0	0	1	0	0	0	--	--		0	A			SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Missense_Mutation_p.G207C|SPIRE1_uc010wzx.1_Missense_Mutation_p.G130C|SPIRE1_uc010wzy.1_Missense_Mutation_p.G327C	31	GBM-06-0166-TP	p.G327C	C	GGAATATCACCATTCACCTAA	NM_001128626	NP_001122098	12496095	Q08AE8	SPIR1_HUMAN	0			7	1026	-	A	A			Missense_Mutation	327						
SPIRE2	84501	broad.mit.edu	GRCh37	16	89916966	89916966	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0648-01	TCGA-06-0648-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378247.3:c.547del	p.Arg183GlyfsTer75	p.R183Gfs*75	ENST00000378247	NM_032451.1	181	gaC/ga	0			1			-	D/X	uc002foz.1	protein_coding	YES	CCDS32516.1			543/2145									central_nervous_system(1)	1	c.(541-543)GACfs			PROSITE_profiles:PS51377,hmmpanther:PTHR21345:SF5,hmmpanther:PTHR21345,SMART_domains:SM00750	spire homolog 2				ENSP00000367494		15-Mar										15-Mar	.		ENST00000378247	Transcript			transport	cytoplasm|cytoskeleton	actin binding	ENSG00000204991	g.chr16:89916966delC	30623	4		HIGH								--	--	1																																		SPIRE2_uc010civ.1_Frame_Shift_Del_p.D96fs|SPIRE2_uc010ciw.1_Frame_Shift_Del_p.D181fs|SPIRE2_uc002fpa.1_Frame_Shift_Del_p.D133fs|SPIRE2_uc010cix.1_Frame_Shift_Del_p.D50fs		1			p.D181fs	NM_032451	NP_115827				SPIR2_HUMAN	SPIRE2	HGNC	Q8WWL2	SPIR2_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0286)	B3KT42_HUMAN		3	595	+		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)	UPI00001C1FA8	181			KIND.		deletion	SPIRE2,frameshift_variant,p.Arg183GlyfsTer75,ENST00000378247,NM_032451.1;SPIRE2,frameshift_variant,p.Arg183GlyfsTer75,ENST00000393062,;SPIRE2,downstream_gene_variant,,ENST00000563972,;SPIRE2,non_coding_transcript_exon_variant,,ENST00000564878,;SPIRE2,3_prime_UTR_variant,,ENST00000566337,;SPIRE2,non_coding_transcript_exon_variant,,ENST00000569108,;SPIRE2,upstream_gene_variant,,ENST00000561883,;	uc002foz.1	c.543delC	586/3235	5	5			c.543delC						16	DEL	c.(541-543)GACfs	NaN	0			central_nervous_system(1)	1	Broad	spire homolog 2			89916966		0.751	ENSG00000204991	14841	g.chr16:89916966delC	transport	cytoplasm|cytoskeleton	actin binding																				0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			SPIRE2_uc010civ.1_Frame_Shift_Del_p.D96fs|SPIRE2_uc010ciw.1_Frame_Shift_Del_p.D181fs|SPIRE2_uc002fpa.1_Frame_Shift_Del_p.D133fs|SPIRE2_uc010cix.1_Frame_Shift_Del_p.D50fs	61	GBM-06-0648-TP	p.D181fs	C	GGCTGACCGACCCCCGGGGCG	NM_032451	NP_115827	89916966	Q8WWL2	SPIR2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(80;0.0286)	3	595	+	-	-		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)	Frame_Shift_Del	181			KIND.			
SPNS1	83985	broad.mit.edu	GRCh37	16	28992797	28992797	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-5413-01	TCGA-06-5413-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311008.11:c.670C>A	p.Pro224Thr	p.P224T	ENST00000311008	NM_032038.2	224	Ccg/Acg	0			1			A	P/T	uc010vdi.1	protein_coding	YES	CCDS10646.1			670/1587										0	c.(670-672)CCG>ACG			Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR24001,hmmpanther:PTHR24001:SF3,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix	spinster homolog 1 isoform 1				ENSP00000309945		12-Jun									COSM2153194	12-Jun	.		ENST00000311008	Transcript			lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding	ENSG00000169682	g.chr16:28992797C>A	30621			MODERATE		2.59	medium	getma.org/?cm=msa&ty=f&p=SPNS1_HUMAN&rb=65&re=435&var=P224T	NA	getma.org/?cm=var&var=hg19,16,28992797,C,A&fts=all	P224T	--	--	1																																OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	uc010vct.1_Intron|SPNS1_uc002drx.2_Missense_Mutation_p.P151T|SPNS1_uc002dsa.2_Missense_Mutation_p.P224T|SPNS1_uc002drz.2_Missense_Mutation_p.P224T|SPNS1_uc010byp.2_Missense_Mutation_p.P202T|SPNS1_uc010byq.1_Missense_Mutation_p.P156T	1	1		probably_damaging(0.967)	p.P224T	NM_001142448	NP_001135920		deleterious(0.02)	1	SPNS1_HUMAN	SPNS1	HGNC	Q9H2V7	SPNS1_HUMAN			H3BT44_HUMAN,H3BP14_HUMAN		7	810	+			UPI000004DB99	224			Helical; (Potential).		SNV	SPNS1,missense_variant,p.Pro224Thr,ENST00000311008,NM_032038.2;SPNS1,missense_variant,p.Pro151Thr,ENST00000323081,NM_001142450.1;SPNS1,missense_variant,p.Pro224Thr,ENST00000334536,NM_001142451.1;SPNS1,missense_variant,p.Pro269Thr,ENST00000565975,NM_001142448.1;SPNS1,missense_variant,p.Pro202Thr,ENST00000352260,NM_001142449.1;SPNS1,missense_variant,p.Pro218Thr,ENST00000566059,;SPNS1,intron_variant,,ENST00000564476,;SPNS1,intron_variant,,ENST00000568829,;LAT,upstream_gene_variant,,ENST00000395456,NM_001014987.1,NM_001014988.1,NM_014387.3;LAT,upstream_gene_variant,,ENST00000360872,;LAT,upstream_gene_variant,,ENST00000395461,NM_001014989.1;LAT,upstream_gene_variant,,ENST00000454369,;LAT,upstream_gene_variant,,ENST00000564277,;SPNS1,downstream_gene_variant,,ENST00000567771,;LAT,upstream_gene_variant,,ENST00000566177,;SPNS1,downstream_gene_variant,,ENST00000568388,;LAT,upstream_gene_variant,,ENST00000354453,;LAT,upstream_gene_variant,,ENST00000570232,;RP11-264B17.4,upstream_gene_variant,,ENST00000567209,;SPNS1,non_coding_transcript_exon_variant,,ENST00000561868,;LAT,upstream_gene_variant,,ENST00000563964,;RP11-264B17.3,non_coding_transcript_exon_variant,,ENST00000569969,;SPNS1,downstream_gene_variant,,ENST00000568900,;LAT,upstream_gene_variant,,ENST00000566270,;LAT,upstream_gene_variant,,ENST00000562701,;LAT,upstream_gene_variant,,ENST00000568899,;LAT,upstream_gene_variant,,ENST00000562472,;LAT,upstream_gene_variant,,ENST00000568440,;	uc010vdi.1	c.670C>A	1047/2208	2	2			c.670C>A						16	SNP	c.(670-672)CCG>ACG	41	41				0	Broad	spinster homolog 1 isoform 1			28992797		0.622	ENSG00000169682	14843	g.chr16:28992797C>A	lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding							31.542919	KEEP	10	4	0.285714286	25	30	10	4	0.285714286	36.378613	25	30	0.209677	1	0	0	0	0	1	0	0	0	--	--		0	A	OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	uc010vct.1_Intron|SPNS1_uc002drx.2_Missense_Mutation_p.P151T|SPNS1_uc002dsa.2_Missense_Mutation_p.P224T|SPNS1_uc002drz.2_Missense_Mutation_p.P224T|SPNS1_uc010byp.2_Missense_Mutation_p.P202T|SPNS1_uc010byq.1_Missense_Mutation_p.P156T	96	GBM-06-5413-TP	p.P224T	C	CCAGGTGACACCGGGTCTAGG	NM_001142448	NP_001135920	28992797	Q9H2V7	SPNS1_HUMAN	0			7	810	+	A	A			Missense_Mutation	224			Helical; (Potential).			
SPNS3	201305	broad.mit.edu	GRCh37	17	4337372	4337372	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0128-01	TCGA-06-0128-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355530.2:c.110G>A	p.Trp37Ter	p.W37*	ENST00000355530	NM_182538.4	37	tGg/tAg	0			1			A	W/*	uc002fxt.2	protein_coding	YES	CCDS11045.1			110/1539									large_intestine(1)	1	c.(109-111)TGG>TAG			hmmpanther:PTHR24001:SF2,hmmpanther:PTHR24001,Superfamily_domains:SSF103473	spinster homolog 3				ENSP00000347721		12-Jan									COSM1709595	12-Jan	.		ENST00000355530	Transcript			lipid transport|transmembrane transport	integral to membrane		ENSG00000182557	g.chr17:4337372G>A	28433			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,17,4337372,G,A&fts=all	W37*	--	--	1																																		SPNS3_uc002fxu.2_5'UTR	1	1			p.W37*	NM_182538	NP_872344			1	SPNS3_HUMAN	SPNS3	HGNC	Q6ZMD2	SPNS3_HUMAN					1	154	+			UPI00001971EC	37					SNV	SPNS3,stop_gained,p.Trp37Ter,ENST00000355530,NM_182538.4;SPNS3,5_prime_UTR_variant,,ENST00000333476,;SPNS3,non_coding_transcript_exon_variant,,ENST00000576069,;SPNS3,stop_gained,p.Trp37Ter,ENST00000575194,;	uc002fxt.2	c.110G>A	390/2133	5	2			c.110G>A						17	SNP	c.(109-111)TGG>TAG	35	35			large_intestine(1)	1	Broad	spinster homolog 3			4337372		0.657	ENSG00000182557	14845	g.chr17:4337372G>A	lipid transport|transmembrane transport	integral to membrane								137.35618	KEEP	23	30	-1	36	45	23	30	-1	138.235564	36	45	0.408333	1	0	0	0	0	0	1	0	0	--	--		0	A			SPNS3_uc002fxu.2_5'UTR	14	GBM-06-0128-TP	p.W37*	G	CCCACCTCCTGGAGCCTGCCC	NM_182538	NP_872344	4337372	Q6ZMD2	SPNS3_HUMAN	0			1	154	+	A	A			Nonsense_Mutation	37						
SPOCD1	0	broad.mit.edu	GRCh37	1	32280067	32280067	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2625-01	TCGA-19-2625-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360482.2:c.868G>A	p.Ala290Thr	p.A290T	ENST00000360482	NM_144569.4	290	Gct/Act	0		T:0.0008	1	T:0		T	A/T	uc001bts.1	protein_coding	YES	CCDS347.1			868/3651									ovary(5)|breast(1)	6	c.(868-870)GCT>ACT			hmmpanther:PTHR14914:SF5,hmmpanther:PTHR14914	SPOC domain containing 1		T:0		ENSP00000353670	T:0	16-Feb	7.42E-05	0.000807				1.65E-05		8.31E-05	rs555926182,COSM2077473	16-Feb	common_variant		ENST00000360482	Transcript		T:0.0002	transcription, DNA-dependent			ENSG00000134668	g.chr1:32280067C>T	26338			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=SPOC1_HUMAN&rb=240&re=593&var=A290T	NA	getma.org/?cm=var&var=hg19,1,32280067,C,T&fts=all	A290T	--	--	1																																		SPOCD1_uc001btu.2_Missense_Mutation_p.A290T|SPOCD1_uc001btv.2_Intron	0,1	1		benign(0.001)	p.A290T	NM_144569	NP_653170	T:0	tolerated(1)	0,1	SPOC1_HUMAN	SPOCD1	HGNC	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	E9PMX0_HUMAN,E9PKC3_HUMAN		2	926	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	UPI000035E7DD	290					SNV	SPOCD1,missense_variant,p.Ala290Thr,ENST00000360482,NM_144569.4;SPOCD1,missense_variant,p.Ala290Thr,ENST00000533231,NM_001281987.1;SPOCD1,missense_variant,p.Ala290Thr,ENST00000373648,;SPOCD1,intron_variant,,ENST00000257100,NM_001281988.1;SPOCD1,intron_variant,,ENST00000529396,;SPOCD1,intron_variant,,ENST00000528791,;SPOCD1,intron_variant,,ENST00000525930,;SPOCD1,upstream_gene_variant,,ENST00000485944,;	uc001bts.1	c.868G>A	998/3960	2	2			c.868G>A						1	SNP	c.(868-870)GCT>ACT	25	25			ovary(5)|breast(1)	6	Broad	SPOC domain containing 1			32280067		0.632	ENSG00000134668	14847	g.chr1:32280067C>T	transcription, DNA-dependent									21.779401	KEEP	5	7	-1	29	33	5	7	-1	28.691231	29	33	0.173913	1	0	0	0	0	1	0	0	0	--	--		0	T			SPOCD1_uc001btu.2_Missense_Mutation_p.A290T|SPOCD1_uc001btv.2_Intron	165	GBM-19-2625-TP	p.A290T	C	TCCCCTGTAGCGGGCAAATAT	NM_144569	NP_653170	32280067	Q6ZMY3	SPOC1_HUMAN	0		STAD - Stomach adenocarcinoma(196;0.18)	2	926	-	T	T		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	Missense_Mutation	290						
SPOCD1	0	broad.mit.edu	GRCh37	1	32279589	32279589	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01	TCGA-28-2502-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360482.2:c.1346G>A	p.Arg449Lys	p.R449K	ENST00000360482	NM_144569.4	449	aGg/aAg	0			1			T	R/K	uc001bts.1	protein_coding	YES	CCDS347.1			1346/3651									ovary(5)|breast(1)	6	c.(1345-1347)AGG>AAG			hmmpanther:PTHR14914:SF5,hmmpanther:PTHR14914	SPOC domain containing 1				ENSP00000353670		16-Feb									COSM3400676	16-Feb	.		ENST00000360482	Transcript			transcription, DNA-dependent			ENSG00000134668	g.chr1:32279589C>T	26338			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=SPOC1_HUMAN&rb=240&re=593&var=R449K	NA	getma.org/?cm=var&var=hg19,1,32279589,C,T&fts=all	R449K	--	--	1																																		SPOCD1_uc001btu.2_Missense_Mutation_p.R449K|SPOCD1_uc001btv.2_Intron	1	1		benign(0.002)	p.R449K	NM_144569	NP_653170		tolerated(0.26)	1	SPOC1_HUMAN	SPOCD1	HGNC	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	E9PMX0_HUMAN,E9PKC3_HUMAN		2	1404	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	UPI000035E7DD	449					SNV	SPOCD1,missense_variant,p.Arg449Lys,ENST00000360482,NM_144569.4;SPOCD1,missense_variant,p.Arg449Lys,ENST00000533231,NM_001281987.1;SPOCD1,missense_variant,p.Arg449Lys,ENST00000373648,;SPOCD1,intron_variant,,ENST00000257100,NM_001281988.1;SPOCD1,intron_variant,,ENST00000529396,;SPOCD1,intron_variant,,ENST00000528791,;SPOCD1,intron_variant,,ENST00000525930,;SPOCD1,non_coding_transcript_exon_variant,,ENST00000485944,;	uc001bts.1	c.1346G>A	1476/3960	1	1			c.1346G>A						1	SNP	c.(1345-1347)AGG>AAG	3	3			ovary(5)|breast(1)	6	Broad	SPOC domain containing 1			32279589		0.567	ENSG00000134668	14847	g.chr1:32279589C>T	transcription, DNA-dependent									148.008785	KEEP	34	28	-1	92	109	34	28	-1	161.578297	92	109	0.243363	1	0	0	0	0	1	0	0	0	--	--		0	T			SPOCD1_uc001btu.2_Missense_Mutation_p.R449K|SPOCD1_uc001btv.2_Intron	210	GBM-28-2502-TP	p.R449K	C	TTCCTCTGGCCTGTCCTGGTG	NM_144569	NP_653170	32279589	Q6ZMY3	SPOC1_HUMAN	0		STAD - Stomach adenocarcinoma(196;0.18)	2	1404	-	T	T		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	Missense_Mutation	449						
SPOCK1	6695	broad.mit.edu	GRCh37	5	136324273	136324273	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0209-01	TCGA-06-0209-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394945.1:c.766T>C	p.Leu256=	p.L256=	ENST00000394945	NM_004598.3	256	Ttg/Ctg	0	G:0.0002		1			G	L	uc003lbo.2	protein_coding	YES	CCDS4191.1			766/1320									ovary(1)	1	c.(766-768)TTG>CTG			hmmpanther:PTHR12036:SF18,hmmpanther:PTHR12036,Pfam_domain:PF10591,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	sparc/osteonectin, cwcv and kazal-like domains			G:0	ENSP00000378401		11-Aug	2.47E-05	0.000192				1.50E-05			rs373166420,COSM3409750	11-Aug	.		ENST00000394945	Transcript			cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding	ENSG00000152377	g.chr5:136324273A>G	11251			LOW								--	--	1																																		SPOCK1_uc003lbp.2_Silent_p.L256L	0,1	1			p.L256L	NM_004598	NP_004589			0,1	TICN1_HUMAN	SPOCK1	HGNC	Q08629	TICN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		D6RB21_HUMAN,D6RAM7_HUMAN,D3DQB3_HUMAN		7	957	-			UPI0000136F50	256					SNV	SPOCK1,synonymous_variant,p.=,ENST00000394945,NM_004598.3;SPOCK1,synonymous_variant,p.=,ENST00000282223,;SPOCK1,downstream_gene_variant,,ENST00000510689,;SPOCK1,non_coding_transcript_exon_variant,,ENST00000509978,;SPOCK1,non_coding_transcript_exon_variant,,ENST00000508642,;	uc003lbo.2	c.766T>C	936/4846	3	3			c.766T>C						5	SNP	c.(766-768)TTG>CTG	62	62			ovary(1)	1	Broad	sparc/osteonectin, cwcv and kazal-like domains			136324273		0.498	ENSG00000152377	14848	g.chr5:136324273A>G	cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding							161.655486	KEEP	19	37	-1	51	62	19	37	-1	165.836591	51	62	0.322148	1	0	0	0	0	0	0	1	0	--	--		0	G			SPOCK1_uc003lbp.2_Silent_p.L256L	46	GBM-06-0209-TP	p.L256L	A	TTCATGTCCAACTTGTTGAAC	NM_004598	NP_004589	136324273	Q08629	TICN1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		7	957	-	G	G			Silent	256						
SPOCK1	0	broad.mit.edu	GRCh37	5	136314406	136314406	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4928-01	TCGA-76-4928-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394945.1:c.1257C>T	p.Ala419=	p.A419=	ENST00000394945	NM_004598.3	419	gcC/gcT	0			1			A	A	uc003lbo.2	protein_coding	YES	CCDS4191.1			1257/1320									ovary(1)	1	c.(1255-1257)GCC>GCT			hmmpanther:PTHR12036:SF18,hmmpanther:PTHR12036	sparc/osteonectin, cwcv and kazal-like domains				ENSP00000378401		11-Nov	2.47E-05			0.000231		1.50E-05			rs776151708,COSM3138792	11-Nov	.		ENST00000394945	Transcript			cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding	ENSG00000152377	g.chr5:136314406G>A	11251			LOW								--	--	1																																		SPOCK1_uc003lbp.2_Silent_p.A419A	0,1	1			p.A419A	NM_004598	NP_004589			0,1	TICN1_HUMAN	SPOCK1	HGNC	Q08629	TICN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		D6RB21_HUMAN,D6RAM7_HUMAN,D3DQB3_HUMAN		10	1448	-			UPI0000136F50	419					SNV	SPOCK1,synonymous_variant,p.=,ENST00000394945,NM_004598.3;SPOCK1,synonymous_variant,p.=,ENST00000282223,;SPOCK1,downstream_gene_variant,,ENST00000509978,;SPOCK1,non_coding_transcript_exon_variant,,ENST00000515091,;	uc003lbo.2	c.1257C>T	1427/4846	1	1			c.1257C>T						5	SNP	c.(1255-1257)GCC>GCT	63	63			ovary(1)	1	Broad	sparc/osteonectin, cwcv and kazal-like domains			136314406		0.522	ENSG00000152377	14848	g.chr5:136314406G>A	cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding							171.372596	KEEP	59	33	-1	158	172	59	33	-1	194.893304	158	172	0.218069	1	0	0	0	0	0	0	1	0	--	--		0	A			SPOCK1_uc003lbp.2_Silent_p.A419A	268	GBM-76-4928-TP	p.A419A	G	CCTCTGTCACGGCTCGGGTGT	NM_004598	NP_004589	136314406	Q08629	TICN1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		10	1448	-	A	A			Silent	419						
SPOCK3	50859	broad.mit.edu	GRCh37	4	167656159	167656159	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0132-01	TCGA-06-0132-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357154.3:c.1224T>C	p.Ile408=	p.I408=	ENST00000357154	NM_016950.2	408	atT/atC	0			1			G	I	uc003iri.1	protein_coding	YES	CCDS54817.1			1224/1311									large_intestine(1)|ovary(1)|central_nervous_system(1)	3	c.(1222-1224)ATT>ATC			hmmpanther:PTHR12036,hmmpanther:PTHR12036:SF4,Low_complexity_(Seg):seg	testican 3 isoform 2				ENSP00000349677		12-Dec									COSM3409155,COSM3409154	12-Dec	.		ENST00000357154	Transcript			signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	ENSG00000196104	g.chr4:167656159A>G	13565			LOW								--	--	1																																		SPOCK3_uc011cjp.1_Silent_p.I365I|SPOCK3_uc011cjq.1_Silent_p.I417I|SPOCK3_uc011cjr.1_Silent_p.I288I|SPOCK3_uc003irj.1_Silent_p.I405I|SPOCK3_uc011cjs.1_Silent_p.I357I|SPOCK3_uc011cjt.1_Silent_p.I316I|SPOCK3_uc011cju.1_Silent_p.I301I|SPOCK3_uc011cjv.1_Silent_p.I310I	1,1	1			p.I408I	NM_016950	NP_058646			1,1	TICN3_HUMAN	SPOCK3	HGNC	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	Q4W5S3_HUMAN,Q4W5E2_HUMAN,E7EMP8_HUMAN		12	1365	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	UPI000004BA60	408			Asp-rich.		SNV	SPOCK3,synonymous_variant,p.=,ENST00000357154,NM_016950.2;SPOCK3,synonymous_variant,p.=,ENST00000506886,;SPOCK3,synonymous_variant,p.=,ENST00000357545,NM_001204354.1,NM_001204352.1,NM_001040159.1;SPOCK3,synonymous_variant,p.=,ENST00000511531,;SPOCK3,synonymous_variant,p.=,ENST00000504953,;SPOCK3,synonymous_variant,p.=,ENST00000502330,;SPOCK3,synonymous_variant,p.=,ENST00000510741,NM_001204356.1;SPOCK3,synonymous_variant,p.=,ENST00000511269,;SPOCK3,synonymous_variant,p.=,ENST00000421836,;SPOCK3,synonymous_variant,p.=,ENST00000541354,NM_001204353.1;SPOCK3,synonymous_variant,p.=,ENST00000512681,NM_001251967.1;SPOCK3,synonymous_variant,p.=,ENST00000535728,;SPOCK3,synonymous_variant,p.=,ENST00000534949,NM_001204355.1;SPOCK3,synonymous_variant,p.=,ENST00000541637,;SPOCK3,non_coding_transcript_exon_variant,,ENST00000507137,;SPOCK3,3_prime_UTR_variant,,ENST00000502821,;SPOCK3,3_prime_UTR_variant,,ENST00000511905,;SPOCK3,3_prime_UTR_variant,,ENST00000505187,;SPOCK3,3_prime_UTR_variant,,ENST00000507370,;	uc003iri.1	c.1224T>C	1362/2986	4	4			c.1224T>C						4	SNP	c.(1222-1224)ATT>ATC	29	29			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Broad	testican 3 isoform 2			167656159		0.07	ENSG00000196104	14850	g.chr4:167656159A>G	signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity							29.554274	KEEP	7	6	-1	33	36	7	6	-1	38.484511	33	36	0.153846	1	0	0	0	0	0	0	1	0	--	--		0	G			SPOCK3_uc011cjp.1_Silent_p.I365I|SPOCK3_uc011cjq.1_Silent_p.I417I|SPOCK3_uc011cjr.1_Silent_p.I288I|SPOCK3_uc003irj.1_Silent_p.I405I|SPOCK3_uc011cjs.1_Silent_p.I357I|SPOCK3_uc011cjt.1_Silent_p.I316I|SPOCK3_uc011cju.1_Silent_p.I301I|SPOCK3_uc011cjv.1_Silent_p.I310I	17	GBM-06-0132-TP	p.I408I	A	catcattcataatatcgtctt	NM_016950	NP_058646	167656159	Q9BQ16	TICN3_HUMAN	0		GBM - Glioblastoma multiforme(119;0.02)	12	1365	-	G	G	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	Silent	408			Asp-rich.			
SPOCK3	0	broad.mit.edu	GRCh37	4	167656162	167656162	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-32-5222-01	TCGA-32-5222-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357154.3:c.1221T>C	p.Asp407=	p.D407=	ENST00000357154	NM_016950.2	407	gaT/gaC	0			1			G	D	uc003iri.1	protein_coding	YES	CCDS54817.1			1221/1311									large_intestine(1)|ovary(1)|central_nervous_system(1)	3	c.(1219-1221)GAT>GAC			hmmpanther:PTHR12036,hmmpanther:PTHR12036:SF4,Low_complexity_(Seg):seg	testican 3 isoform 2				ENSP00000349677		12-Dec									COSM3409157,COSM3409156	12-Dec	.		ENST00000357154	Transcript			signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	ENSG00000196104	g.chr4:167656162A>G	13565			LOW								--	--	1																																		SPOCK3_uc011cjp.1_Silent_p.D364D|SPOCK3_uc011cjq.1_Silent_p.D416D|SPOCK3_uc011cjr.1_Silent_p.D287D|SPOCK3_uc003irj.1_Silent_p.D404D|SPOCK3_uc011cjs.1_Silent_p.D356D|SPOCK3_uc011cjt.1_Silent_p.D315D|SPOCK3_uc011cju.1_Silent_p.D300D|SPOCK3_uc011cjv.1_Silent_p.D309D	1,1	1			p.D407D	NM_016950	NP_058646			1,1	TICN3_HUMAN	SPOCK3	HGNC	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	Q4W5S3_HUMAN,Q4W5E2_HUMAN,E7EMP8_HUMAN		12	1362	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	UPI000004BA60	407			Asp-rich.		SNV	SPOCK3,synonymous_variant,p.=,ENST00000357154,NM_016950.2;SPOCK3,synonymous_variant,p.=,ENST00000506886,;SPOCK3,synonymous_variant,p.=,ENST00000357545,NM_001204354.1,NM_001204352.1,NM_001040159.1;SPOCK3,synonymous_variant,p.=,ENST00000511531,;SPOCK3,synonymous_variant,p.=,ENST00000504953,;SPOCK3,synonymous_variant,p.=,ENST00000502330,;SPOCK3,synonymous_variant,p.=,ENST00000510741,NM_001204356.1;SPOCK3,synonymous_variant,p.=,ENST00000511269,;SPOCK3,synonymous_variant,p.=,ENST00000421836,;SPOCK3,synonymous_variant,p.=,ENST00000541354,NM_001204353.1;SPOCK3,synonymous_variant,p.=,ENST00000512681,NM_001251967.1;SPOCK3,synonymous_variant,p.=,ENST00000535728,;SPOCK3,synonymous_variant,p.=,ENST00000534949,NM_001204355.1;SPOCK3,synonymous_variant,p.=,ENST00000541637,;SPOCK3,non_coding_transcript_exon_variant,,ENST00000507137,;SPOCK3,3_prime_UTR_variant,,ENST00000502821,;SPOCK3,3_prime_UTR_variant,,ENST00000511905,;SPOCK3,3_prime_UTR_variant,,ENST00000505187,;SPOCK3,3_prime_UTR_variant,,ENST00000507370,;	uc003iri.1	c.1221T>C	1359/2986	3	3			c.1221T>C						4	SNP	c.(1219-1221)GAT>GAC	15	15			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Broad	testican 3 isoform 2			167656162		0.07	ENSG00000196104	14850	g.chr4:167656162A>G	signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity							150.029395	KEEP	10	34	-1	33	40	10	34	-1	151.660865	33	40	0.371681	1	0	0	0	0	0	0	1	0	--	--		0	G			SPOCK3_uc011cjp.1_Silent_p.D364D|SPOCK3_uc011cjq.1_Silent_p.D416D|SPOCK3_uc011cjr.1_Silent_p.D287D|SPOCK3_uc003irj.1_Silent_p.D404D|SPOCK3_uc011cjs.1_Silent_p.D356D|SPOCK3_uc011cjt.1_Silent_p.D315D|SPOCK3_uc011cju.1_Silent_p.D300D|SPOCK3_uc011cjv.1_Silent_p.D309D	249	GBM-32-5222-TP	p.D407D	A	cattcataatatcgtcttcat	NM_016950	NP_058646	167656162	Q9BQ16	TICN3_HUMAN	0		GBM - Glioblastoma multiforme(119;0.02)	12	1362	-	G	G	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	Silent	407			Asp-rich.			
SPOCK3	0	broad.mit.edu	GRCh37	4	167663205	167663205	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-6191-01	TCGA-76-6191-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357154.3:c.946C>A	p.Pro316Thr	p.P316T	ENST00000357154	NM_016950.2	316	Cct/Act	0			1			T	P/T	uc003iri.1	protein_coding	YES	CCDS54817.1			946/1311									large_intestine(1)|ovary(1)|central_nervous_system(1)	3	c.(946-948)CCT>ACT			Gene3D:4.10.800.10,PROSITE_profiles:PS51162,hmmpanther:PTHR12036,hmmpanther:PTHR12036:SF4,Superfamily_domains:SSF47473,Superfamily_domains:SSF57610	testican 3 isoform 2				ENSP00000349677		12-Oct										12-Oct	.		ENST00000357154	Transcript			signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	ENSG00000196104	g.chr4:167663205G>T	13565			MODERATE		3.015	medium	getma.org/?cm=msa&ty=f&p=TICN3_HUMAN&rb=314&re=380&var=P316T	getma.org/pdb.php?prot=TICN3_HUMAN&from=314&to=380&var=P316T	getma.org/?cm=var&var=hg19,4,167663205,G,T&fts=all	P316T	--	--	1																																		SPOCK3_uc011cjp.1_Missense_Mutation_p.P273T|SPOCK3_uc011cjq.1_Missense_Mutation_p.P325T|SPOCK3_uc011cjr.1_Missense_Mutation_p.P196T|SPOCK3_uc003irj.1_Missense_Mutation_p.P313T|SPOCK3_uc011cjs.1_Missense_Mutation_p.P265T|SPOCK3_uc011cjt.1_Missense_Mutation_p.P224T|SPOCK3_uc011cju.1_Missense_Mutation_p.P209T|SPOCK3_uc011cjv.1_Missense_Mutation_p.P218T		1		probably_damaging(1)	p.P316T	NM_016950	NP_058646		deleterious(0)		TICN3_HUMAN	SPOCK3	HGNC	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	Q4W5S3_HUMAN,Q4W5E2_HUMAN,E7EMP8_HUMAN		10	1087	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	UPI000004BA60	316			Thyroglobulin type-1.		SNV	SPOCK3,missense_variant,p.Pro316Thr,ENST00000357154,NM_016950.2;SPOCK3,missense_variant,p.Pro316Thr,ENST00000506886,;SPOCK3,missense_variant,p.Pro313Thr,ENST00000357545,NM_001204354.1,NM_001204352.1,NM_001040159.1;SPOCK3,missense_variant,p.Pro316Thr,ENST00000511531,;SPOCK3,missense_variant,p.Pro313Thr,ENST00000504953,;SPOCK3,missense_variant,p.Pro316Thr,ENST00000502330,;SPOCK3,missense_variant,p.Pro273Thr,ENST00000510741,NM_001204356.1;SPOCK3,missense_variant,p.Pro313Thr,ENST00000511269,;SPOCK3,missense_variant,p.Pro265Thr,ENST00000421836,;SPOCK3,missense_variant,p.Pro196Thr,ENST00000541354,NM_001204353.1;SPOCK3,missense_variant,p.Pro218Thr,ENST00000512681,NM_001251967.1;SPOCK3,missense_variant,p.Pro184Thr,ENST00000535728,;SPOCK3,missense_variant,p.Pro220Thr,ENST00000534949,NM_001204355.1;SPOCK3,missense_variant,p.Pro218Thr,ENST00000541637,;SPOCK3,non_coding_transcript_exon_variant,,ENST00000507137,;SPOCK3,3_prime_UTR_variant,,ENST00000502821,;SPOCK3,3_prime_UTR_variant,,ENST00000511905,;SPOCK3,3_prime_UTR_variant,,ENST00000505187,;SPOCK3,3_prime_UTR_variant,,ENST00000507370,;	uc003iri.1	c.946C>A	1084/2986	1	1			c.946C>A						4	SNP	c.(946-948)CCT>ACT	4	4			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Broad	testican 3 isoform 2			167663205		0.373	ENSG00000196104	14850	g.chr4:167663205G>T	signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity							154.289919	KEEP	24	27	0.470588235	22	43	24	27	0.470588235	154.535389	22	43	0.448598	1	0	0	0	0	1	0	0	0	--	--		0	T			SPOCK3_uc011cjp.1_Missense_Mutation_p.P273T|SPOCK3_uc011cjq.1_Missense_Mutation_p.P325T|SPOCK3_uc011cjr.1_Missense_Mutation_p.P196T|SPOCK3_uc003irj.1_Missense_Mutation_p.P313T|SPOCK3_uc011cjs.1_Missense_Mutation_p.P265T|SPOCK3_uc011cjt.1_Missense_Mutation_p.P224T|SPOCK3_uc011cju.1_Missense_Mutation_p.P209T|SPOCK3_uc011cjv.1_Missense_Mutation_p.P218T	274	GBM-76-6191-TP	p.P316T	G	GTCTGGCAAGGTGGGTCTGCA	NM_016950	NP_058646	167663205	Q9BQ16	TICN3_HUMAN	0		GBM - Glioblastoma multiforme(119;0.02)	10	1087	-	T	T	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	Missense_Mutation	316			Thyroglobulin type-1.			
SPOCK3	50859		GRCh37	4	168155201	168155201	+	stop_gained	Nonsense_Mutation	SNP	T	T	A			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000357154.3:c.124A>T	p.Lys42Ter	p.K42*	ENST00000357154	NM_016950.2	42	Aaa/Taa	0																																																																																																																																																																																																																																												
SPON2	0	broad.mit.edu	GRCh37	4	1161329	1161329	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-2572-01	TCGA-41-2572-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290902.5:c.927C>T	p.Pro309=	p.P309=	ENST00000290902	NM_012445.3	309	ccC/ccT	0			1			A	P	uc003gcn.3	protein_coding	YES	CCDS3347.1			927/996									central_nervous_system(1)	1	c.(925-927)CCC>CCT			Gene3D:2.20.100.10,PROSITE_profiles:PS50092,hmmpanther:PTHR11311,SMART_domains:SM00209,Superfamily_domains:SSF82895	spondin 2, extracellular matrix protein				ENSP00000290902		6-Jun									COSM3409019	6-Jun	.		ENST00000290902	Transcript			axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding	ENSG00000159674	g.chr4:1161329G>A	11253			LOW								--	--	1																																OREG0016030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	SPON2_uc003gco.3_Silent_p.P309P|SPON2_uc010ibr.2_Silent_p.P309P|SPON2_uc003gcm.1_3'UTR	1	1			p.P309P	NM_012445	NP_036577			1	SPON2_HUMAN	SPON2	HGNC	Q9BUD6	SPON2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)	D6RIH5_HUMAN,D6REX2_HUMAN,D6RBY3_HUMAN,D6RB12_HUMAN		5	954	-			UPI000004F20E	309			TSP type-1.		SNV	SPON2,synonymous_variant,p.=,ENST00000290902,NM_012445.3;SPON2,synonymous_variant,p.=,ENST00000431380,NM_001128325.2;SPON2,downstream_gene_variant,,ENST00000503765,;SPON2,downstream_gene_variant,,ENST00000502483,;SPON2,downstream_gene_variant,,ENST00000515004,;SPON2,downstream_gene_variant,,ENST00000511672,;SPON2,downstream_gene_variant,,ENST00000511679,;SPON2,downstream_gene_variant,,ENST00000509233,;SPON2,downstream_gene_variant,,ENST00000514490,;RP11-20I20.4,upstream_gene_variant,,ENST00000609548,;SPON2,downstream_gene_variant,,ENST00000509697,;SPON2,downstream_gene_variant,,ENST00000512888,;SPON2,downstream_gene_variant,,ENST00000504909,;SPON2,downstream_gene_variant,,ENST00000507466,;SPON2,downstream_gene_variant,,ENST00000512150,;	uc003gcn.3	c.927C>T	1260/1869	2	2			c.927C>T						4	SNP	c.(925-927)CCC>CCT	41	41			central_nervous_system(1)	1	Broad	spondin 2, extracellular matrix protein			1161329		0.682	ENSG00000159674	14852	g.chr4:1161329G>A	axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding							-21.575316	KEEP	0	3	-1	77	99	0	3	-1	6.709646	77	99	0.026316	1	0	0	0	0	0	0	1	0	--	--		0	A	OREG0016030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	SPON2_uc003gco.3_Silent_p.P309P|SPON2_uc010ibr.2_Silent_p.P309P|SPON2_uc003gcm.1_3'UTR	251	GBM-41-2572-TP	p.P309P	G	CGTTGTTGGCGGGCTGGACCC	NM_012445	NP_036577	1161329	Q9BUD6	SPON2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)	5	954	-	A	A			Silent	309			TSP type-1.			
SPON2	10417		GRCh37	4	1165082	1165082	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000290902.5:c.413C>A	p.Ala138Glu	p.A138E	ENST00000290902	NM_012445.3	138	gCg/gAg	0																																																																																																																																																																																																																																												
SPP2	6694	broad.mit.edu	GRCh37	2	234959451	234959451	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0173-01	TCGA-06-0173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000168148.3:c.21G>A	p.Lys7=	p.K7=	ENST00000168148	NM_006944.2	7	aaG/aaA	0			1			A	K	uc002vvk.1	protein_coding	YES	CCDS2511.1			21/636										0	c.(19-21)AAG>AAA			Cleavage_site_(Signalp):SignalP-TM	secreted phosphoprotein 2, 24kDa precursor				ENSP00000168148		8-Jan									COSM3407707	8-Jan	.		ENST00000168148	Transcript			bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity	ENSG00000072080	g.chr2:234959451G>A	11256			LOW								--	--	1																																		SPP2_uc010fyl.1_5'UTR	1	1			p.K7K	NM_006944	NP_008875			1	SPP24_HUMAN	SPP2	HGNC	Q13103	SPP24_HUMAN		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)	C9J6K0_HUMAN		1	106	+		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)	UPI0000135D66	7					SNV	SPP2,synonymous_variant,p.=,ENST00000168148,NM_006944.2;SPP2,synonymous_variant,p.=,ENST00000373368,;SPP2,5_prime_UTR_variant,,ENST00000425558,;SPP2,upstream_gene_variant,,ENST00000492481,;	uc002vvk.1	c.21G>A	109/1024	2	2			c.21G>A						2	SNP	c.(19-21)AAG>AAA	35	35				0	Broad	secreted phosphoprotein 2, 24kDa precursor			234959451		0.423	ENSG00000072080	14856	g.chr2:234959451G>A	bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity							-51.916066	KEEP	4	1	-1	129	130	4	1	-1	6.521036	129	130	0.017937	1	0	0	0	0	0	0	1	0	--	--		0	A			SPP2_uc010fyl.1_5'UTR	36	GBM-06-0173-TP	p.K7K	G	GAATGGAGAAGATGACGATGA	NM_006944	NP_008875	234959451	Q13103	SPP24_HUMAN	0		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)	1	106	+	A	A		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)	Silent	7						
SPP2	0	broad.mit.edu	GRCh37	2	234967503	234967503	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-14-1456-01	TCGA-14-1456-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000168148.3:c.234C>G	p.Asn78Lys	p.N78K	ENST00000168148	NM_006944.2	78	aaC/aaG	0			1			G	N/K	uc002vvk.1	protein_coding	YES	CCDS2511.1			234/636										0	c.(232-234)AAC>AAG			Gene3D:3.10.450.10,Pfam_domain:PF07448,hmmpanther:PTHR15444,hmmpanther:PTHR15444:SF4,Superfamily_domains:SSF54403	secreted phosphoprotein 2, 24kDa precursor				ENSP00000168148		8-Mar									COSM2155620	8-Mar	.		ENST00000168148	Transcript			bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity	ENSG00000072080	g.chr2:234967503C>G	11256			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=SPP24_HUMAN&rb=73&re=211&var=N78K	NA	getma.org/?cm=var&var=hg19,2,234967503,C,G&fts=all	N78K	--	--	1																																		SPP2_uc010fyl.1_5'UTR	1	1		benign(0.026)	p.N78K	NM_006944	NP_008875		deleterious(0.04)	1	SPP24_HUMAN	SPP2	HGNC	Q13103	SPP24_HUMAN		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)	C9J6K0_HUMAN		3	319	+		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)	UPI0000135D66	78					SNV	SPP2,missense_variant,p.Asn78Lys,ENST00000168148,NM_006944.2;SPP2,missense_variant,p.Asn78Lys,ENST00000373368,;SPP2,5_prime_UTR_variant,,ENST00000425558,;SPP2,downstream_gene_variant,,ENST00000492481,;	uc002vvk.1	c.234C>G	322/1024	4	4			c.234C>G						2	SNP	c.(232-234)AAC>AAG	24	24				0	Broad	secreted phosphoprotein 2, 24kDa precursor			234967503		0.423	ENSG00000072080	14856	g.chr2:234967503C>G	bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity							228.599017	KEEP	39	33	-1	61	74	39	33	-1	231.942803	61	74	0.356757	1	0	0	0	0	1	0	0	0	--	--		0	G			SPP2_uc010fyl.1_5'UTR	146	GBM-14-1456-TP	p.N78K	C	ATGAGAACAACTTGGTCATGA	NM_006944	NP_008875	234967503	Q13103	SPP24_HUMAN	0		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)	3	319	+	G	G		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)	Missense_Mutation	78						
SPP2	0	broad.mit.edu	GRCh37	2	234967547	234967547	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2499-01	TCGA-28-2499-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000168148.3:c.278G>A	p.Arg93Lys	p.R93K	ENST00000168148	NM_006944.2	93	aGg/aAg	0			1			A	R/K	uc002vvk.1	protein_coding	YES	CCDS2511.1			278/636										0	c.(277-279)AGG>AAG			Gene3D:3.10.450.10,Pfam_domain:PF07448,hmmpanther:PTHR15444,hmmpanther:PTHR15444:SF4,Superfamily_domains:SSF54403	secreted phosphoprotein 2, 24kDa precursor				ENSP00000168148		8-Mar									COSM3407708	8-Mar	.		ENST00000168148	Transcript			bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity	ENSG00000072080	g.chr2:234967547G>A	11256			MODERATE		1.405	low	getma.org/?cm=msa&ty=f&p=SPP24_HUMAN&rb=73&re=211&var=R93K	NA	getma.org/?cm=var&var=hg19,2,234967547,G,A&fts=all	R93K	--	--	1																																		SPP2_uc010fyl.1_Missense_Mutation_p.R13K	1	1		benign(0.175)	p.R93K	NM_006944	NP_008875		tolerated(0.47)	1	SPP24_HUMAN	SPP2	HGNC	Q13103	SPP24_HUMAN		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)	C9J6K0_HUMAN		3	363	+		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)	UPI0000135D66	93					SNV	SPP2,missense_variant,p.Arg93Lys,ENST00000168148,NM_006944.2;SPP2,missense_variant,p.Arg93Lys,ENST00000373368,;SPP2,missense_variant,p.Arg13Lys,ENST00000425558,;SPP2,downstream_gene_variant,,ENST00000492481,;	uc002vvk.1	c.278G>A	366/1024	2	2			c.278G>A						2	SNP	c.(277-279)AGG>AAG	20	20				0	Broad	secreted phosphoprotein 2, 24kDa precursor			234967547		0.453	ENSG00000072080	14856	g.chr2:234967547G>A	bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity							239.601739	KEEP	28	53	-1	46	61	28	53	-1	240.57741	46	61	0.420455	1	0	0	0	0	1	0	0	0	--	--		0	A			SPP2_uc010fyl.1_Missense_Mutation_p.R13K	208	GBM-28-2499-TP	p.R93K	G	ACTACATGCAGGAAGGATTCT	NM_006944	NP_008875	234967547	Q13103	SPP24_HUMAN	0		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)	3	363	+	A	A		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)	Missense_Mutation	93						
SPPL2A	0	broad.mit.edu	GRCh37	15	51041869	51041869	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-12-3653-01	TCGA-12-3653-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261854.5:c.141T>C	p.Pro47=	p.P47=	ENST00000261854	NM_032802.3	47	ccT/ccC	0		G:0.0008	1	G:0		G	P	uc001zyv.2	protein_coding	YES	CCDS10138.1			141/1563										0	c.(139-141)CCT>CCC			hmmpanther:PTHR12174:SF34,hmmpanther:PTHR12174	signal peptide peptidase-like 2A		G:0		ENSP00000261854	G:0	15-Feb	8.24E-06	9.61E-05							rs536055633,COSM3401813,COSM3401812	15-Feb	.		ENST00000261854	Transcript		G:0.0002		integral to membrane	aspartic-type endopeptidase activity	ENSG00000138600	g.chr15:51041869A>G	30227			LOW								--	--	1																																			0,1,1	1			p.P47P	NM_032802	NP_116191	G:0		0,1,1	SPP2A_HUMAN	SPPL2A	HGNC	Q8TCT8	PSL2_HUMAN		all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)	H0YNA7_HUMAN		2	321	-			UPI0000013591	47			Cytoplasmic (Potential).		SNV	SPPL2A,synonymous_variant,p.=,ENST00000261854,NM_032802.3;SPPL2A,synonymous_variant,p.=,ENST00000558414,;SPPL2A,upstream_gene_variant,,ENST00000558934,;RP11-507J18.2,non_coding_transcript_exon_variant,,ENST00000558317,;SPPL2A,non_coding_transcript_exon_variant,,ENST00000560288,;SPPL2A,upstream_gene_variant,,ENST00000559527,;	uc001zyv.2	c.141T>C	416/2329	3	3			c.141T>C						15	SNP	c.(139-141)CCT>CCC	6	6				0	Broad	signal peptide peptidase-like 2A			51041869		0.363	ENSG00000138600	14857	g.chr15:51041869A>G		integral to membrane	aspartic-type endopeptidase activity	Melanoma(50;790 1209 4069 22965 33125)			Melanoma(50;790 1209 4069 22965 33125)			-74.860246	KEEP	3	1	-1	199	143	3	1	-1	6.659957	199	143	0.010169	1	0	0	0	0	0	0	1	0	--	--		0	G				128	GBM-12-3653-TP	p.P47P	A	CTGTCCAATAAGGGTTATAAA	NM_032802	NP_116191	51041869	Q8TCT8	PSL2_HUMAN	0		all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)	2	321	-	G	G			Silent	47			Cytoplasmic (Potential).			
SPPL2A	0	broad.mit.edu	GRCh37	15	51031880	51031880	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-28-1753-01	TCGA-28-1753-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261854.5:c.730T>C	p.Leu244=	p.L244=	ENST00000261854	NM_032802.3	244	Ttg/Ctg	0			1			G	L	uc001zyv.2	protein_coding	YES	CCDS10138.1			730/1563										0	c.(730-732)TTG>CTG			Transmembrane_helices:TMhelix,hmmpanther:PTHR12174:SF34,hmmpanther:PTHR12174,Pfam_domain:PF04258,SMART_domains:SM00730	signal peptide peptidase-like 2A				ENSP00000261854		15-Jun									COSM3401811,COSM3401810	15-Jun	.		ENST00000261854	Transcript				integral to membrane	aspartic-type endopeptidase activity	ENSG00000138600	g.chr15:51031880A>G	30227			LOW								--	--	1																																			1,1	1			p.L244L	NM_032802	NP_116191			1,1	SPP2A_HUMAN	SPPL2A	HGNC	Q8TCT8	PSL2_HUMAN		all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)	H0YNA7_HUMAN		6	910	-			UPI0000013591	244					SNV	SPPL2A,synonymous_variant,p.=,ENST00000261854,NM_032802.3;SPPL2A,synonymous_variant,p.=,ENST00000558934,;SPPL2A,non_coding_transcript_exon_variant,,ENST00000559527,;	uc001zyv.2	c.730T>C	1005/2329	3	3			c.730T>C						15	SNP	c.(730-732)TTG>CTG	52	52				0	Broad	signal peptide peptidase-like 2A			51031880		0.308	ENSG00000138600	14857	g.chr15:51031880A>G		integral to membrane	aspartic-type endopeptidase activity	Melanoma(50;790 1209 4069 22965 33125)			Melanoma(50;790 1209 4069 22965 33125)			108.565475	KEEP	14	27	-1	55	58	14	27	-1	115.144536	55	58	0.265152	1	0	0	0	0	0	0	1	0	--	--		0	G				207	GBM-28-1753-TP	p.L244L	A	TTCTTACCCAACCATTTGTAG	NM_032802	NP_116191	51031880	Q8TCT8	PSL2_HUMAN	0		all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)	6	910	-	G	G			Silent	244						
SPPL2B	0	broad.mit.edu	GRCh37	19	2339146	2339146	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G			TCGA-41-3915-01	TCGA-41-3915-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000452401.2:n.618A>G		*206*	ENST00000452401				0			1			G		uc002lvs.2	processed_transcript	YES														0	c.(538-540)ATC>GTC				signal peptide peptidase-like 2B isoform 2						16-May									COSM3404046	16-May	.		ENST00000452401	Transcript				Golgi membrane|integral to membrane	aspartic-type endopeptidase activity	ENSG00000005206	g.chr19:2339146A>G	30627			MODIFIER		0.51	neutral	getma.org/?cm=msa&ty=f&p=SPP2B_HUMAN&rb=1&re=200&var=I180V	NA	getma.org/?cm=var&var=hg19,19,2339146,A,G&fts=all	I180V	--	--	1																																		SPPL2B_uc010dsw.1_Missense_Mutation_p.I152V|SPPL2B_uc010dsy.1_Missense_Mutation_p.I152V|SPPL2B_uc010dsz.1_Missense_Mutation_p.I180V|SPPL2B_uc002lvr.2_Missense_Mutation_p.I180V|SPPL2B_uc010dta.1_Missense_Mutation_p.I33V|SPPL2B_uc002lvu.2_5'Flank	1	1			p.I180V	NM_152988	NP_694533			1		SPPL2B	HGNC	Q8TCT7	PSL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)			5	618	+		Hepatocellular(1079;0.137)		180			Helical; (Potential).		SNV	SPPL2B,non_coding_transcript_exon_variant,,ENST00000452401,;SPPL2B,non_coding_transcript_exon_variant,,ENST00000592845,;SPPL2B,non_coding_transcript_exon_variant,,ENST00000590295,;SPPL2B,non_coding_transcript_exon_variant,,ENST00000586377,;SPPL2B,non_coding_transcript_exon_variant,,ENST00000592738,;SPPL2B,non_coding_transcript_exon_variant,,ENST00000590982,;SPPL2B,non_coding_transcript_exon_variant,,ENST00000382189,;SPPL2B,non_coding_transcript_exon_variant,,ENST00000593243,;SPPL2B,downstream_gene_variant,,ENST00000585725,;SPPL2B,downstream_gene_variant,,ENST00000586332,;SPPL2B,non_coding_transcript_exon_variant,,ENST00000593198,;SPPL2B,non_coding_transcript_exon_variant,,ENST00000591959,;SPPL2B,upstream_gene_variant,,ENST00000589515,;SPPL2B,upstream_gene_variant,,ENST00000590902,;SPPL2B,downstream_gene_variant,,ENST00000587851,;	uc002lvs.2	c.538A>G	618/3811	3	3			c.538A>G						19	SNP	c.(538-540)ATC>GTC	64	64				0	Broad	signal peptide peptidase-like 2B isoform 2			2339146		0.632	ENSG00000005206	14858	g.chr19:2339146A>G		Golgi membrane|integral to membrane	aspartic-type endopeptidase activity							19.31523	KEEP	7	8	-1	15	12	7	8	-1	19.713861	15	12	0.35	1	0	0	0	0	1	0	0	0	--	--		0	G			SPPL2B_uc010dsw.1_Missense_Mutation_p.I152V|SPPL2B_uc010dsy.1_Missense_Mutation_p.I152V|SPPL2B_uc010dsz.1_Missense_Mutation_p.I180V|SPPL2B_uc002lvr.2_Missense_Mutation_p.I180V|SPPL2B_uc010dta.1_Missense_Mutation_p.I33V|SPPL2B_uc002lvu.2_5'Flank	256	GBM-41-3915-TP	p.I180V	A	CATCATCTTCATCATGGCTGT	NM_152988	NP_694533	2339146	Q8TCT7	PSL1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	618	+	G	G		Hepatocellular(1079;0.137)	Missense_Mutation	180			Helical; (Potential).			
SPRR1A	6698	broad.mit.edu	GRCh37	1	152957774	152957774	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-2563-01	TCGA-06-2563-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307122.2:c.68A>T	p.Gln23Leu	p.Q23L	ENST00000307122	NM_001199828.1	23	cAa/cTa	0			1			T	Q/L	uc009wnu.1	protein_coding		CCDS1032.1			68/270										0	c.(67-69)CAA>CTA			Low_complexity_(Seg):seg,hmmpanther:PTHR23263:SF49,hmmpanther:PTHR23263,Pfam_domain:PF02389,Prints_domain:PR00021	small proline-rich protein 1A				ENSP00000357751		1-Jan									COSM2152888	1-Jan	.		ENST00000368762	Transcript			keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	ENSG00000169474	g.chr1:152957774A>T	11259			MODERATE								--	--	1																																		SPRR1A_uc001faw.2_Missense_Mutation_p.Q23L	1			unknown(0)	p.Q23L	NM_005987	NP_005978		tolerated(0.12)	1	SPR1A_HUMAN	SPRR1A	HGNC	P35321	SPR1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)				2	146	+	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		UPI000013EBCC	23			2.|2 X 12 AA approximate repeats.		SNV	SPRR1A,missense_variant,p.Gln23Leu,ENST00000307122,NM_001199828.1,NM_005987.3;SPRR1A,missense_variant,p.Gln23Leu,ENST00000368762,;	uc009wnu.1	c.68A>T	68/270	2	2			c.68A>T						1	SNP	c.(67-69)CAA>CTA	30	30				0	Broad	small proline-rich protein 1A			152957774		0.572	ENSG00000169474	14864	g.chr1:152957774A>T	keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity							174.743544	KEEP	29	48	-1	53	72	29	48	-1	176.776771	53	72	0.380368	1	0	0	0	0	1	0	0	0	--	--		0	T			SPRR1A_uc001faw.2_Missense_Mutation_p.Q23L	86	GBM-06-2563-TP	p.Q23L	A	CAGGTGAAACAACCTTGCCAG	NM_005987	NP_005978	152957774	P35321	SPR1A_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.171)		2	146	+	T	T	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Missense_Mutation	23			2.|2 X 12 AA approximate repeats.			
SPRR1B	0	broad.mit.edu	GRCh37	1	153004854	153004854	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-12-5301-01	TCGA-12-5301-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307098.4:c.33C>G	p.Thr11=	p.T11=	ENST00000307098	NM_003125.2	11	acC/acG	0			1			G	T	uc001fba.2	protein_coding	YES	CCDS30863.1			33/270									ovary(1)	1	c.(31-33)ACC>ACG			hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF49,Low_complexity_(Seg):seg	small proline-rich protein 1B				ENSP00000306461		2-Feb									COSM3399759	2-Feb	.		ENST00000307098	Transcript			keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	ENSG00000169469	g.chr1:153004854C>G	11260			LOW								--	--	1																																		SPRR1B_uc009wnx.1_RNA	1	1			p.T11T	NM_003125	NP_003116			1	SPR1B_HUMAN	SPRR1B	HGNC	P22528	SPR1B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)				2	97	+	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		UPI000013EBC7	11			1.|2 X 12 AA approximate repeats.		SNV	SPRR1B,synonymous_variant,p.=,ENST00000307098,NM_003125.2;SPRR1B,synonymous_variant,p.=,ENST00000392661,;	uc001fba.2	c.33C>G	98/620	3	3			c.33C>G						1	SNP	c.(31-33)ACC>ACG	11	11			ovary(1)	1	Broad	small proline-rich protein 1B			153004854		0.557	ENSG00000169469	14865	g.chr1:153004854C>G	keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity							25.33472	KEEP	41	51	-1	75	140	41	51	-1	56.727693	75	140	0.121076	1	0	0	0	0	0	0	1	0	--	--		0	G			SPRR1B_uc009wnx.1_RNA	131	GBM-12-5301-TP	p.T11T	C	AGCCTTGCACCCCACCCCCTC	NM_003125	NP_003116	153004854	P22528	SPR1B_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.171)		2	97	+	G	G	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Silent	11			1.|2 X 12 AA approximate repeats.			
SPRR2B	0	broad.mit.edu	GRCh37	1	153043127	153043127	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368755.2:c.189C>T	p.Cys63=	p.C63=	ENST00000368755		63	tgC/tgT	0			1			A	C	uc001fbg.2	protein_coding		CCDS30865.1			189/219										0	c.(187-189)TGC>TGT			Low_complexity_(Seg):seg,hmmpanther:PTHR23263:SF29,hmmpanther:PTHR23263,Pfam_domain:PF14820,Prints_domain:PR01217,Prints_domain:PR00021	small proline-rich protein 2B				ENSP00000357744		1-Jan									COSM3399760	1-Jan	.		ENST00000368755	Transcript			keratinization	cornified envelope|cytoplasm		ENSG00000196805	g.chr1:153043127G>A	11262			LOW								--	--	1																																		SPRR2D_uc009wnz.2_Intron|SPRR2A_uc001fbf.2_Intron|SPRR2A_uc009woa.2_Intron	1				p.C63C	NM_001017418	NP_001017418			1	SPR2B_HUMAN	SPRR2B	HGNC	P35325	SPR2B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)				2	252	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		UPI0000135D6F	63					SNV	SPRR2B,synonymous_variant,p.=,ENST00000341611,NM_001017418.1;SPRR2B,synonymous_variant,p.=,ENST00000368755,;SPRR2B,synonymous_variant,p.=,ENST00000368752,;	uc001fbg.2	c.189C>T	190/617	2	2			c.189C>T						1	SNP	c.(187-189)TGC>TGT	29	29				0	Broad	small proline-rich protein 2B			153043127		0.557	ENSG00000196805	14867	g.chr1:153043127G>A	keratinization	cornified envelope|cytoplasm								-53.148343	KEEP	2	3	-1	218	162	2	3	-1	7.684438	218	162	0.021097	1	0	0	0	0	0	0	1	0	--	--		0	A			SPRR2D_uc009wnz.2_Intron|SPRR2A_uc001fbf.2_Intron|SPRR2A_uc009woa.2_Intron	270	GBM-76-4931-TP	p.C63C	G	ACTTTGGCTGGCAGGGTGGGG	NM_001017418	NP_001017418	153043127	P35325	SPR2B_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.171)		2	252	-	A	A	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Silent	63						
SPRR4	163778	broad.mit.edu	GRCh37	1	152944576	152944576	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0171-01	TCGA-06-0171-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328051.2:c.210C>T	p.Ala70=	p.A70=	ENST00000328051	NM_173080.1	70	gcC/gcT	0			1			T	A	uc001fav.1	protein_coding	YES	CCDS1031.1			210/240										0	c.(208-210)GCC>GCT			hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF19	small proline-rich protein 4				ENSP00000332163		2-Feb									COSM2150302	2-Feb	.		ENST00000328051	Transcript			keratinization|peptide cross-linking	cell cortex		ENSG00000184148	g.chr1:152944576C>T	23173			LOW								--	--	1																																			1	1			p.A70A	NM_173080	NP_775103			1	SPRR4_HUMAN	SPRR4	HGNC	Q96PI1	SPRR4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)				2	273	+	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		UPI000006D059	70			Gln-rich.		SNV	SPRR4,synonymous_variant,p.=,ENST00000328051,NM_173080.1;	uc001fav.1	c.210C>T	259/733	2	2			c.210C>T						1	SNP	c.(208-210)GCC>GCT	21	21				0	Broad	small proline-rich protein 4			152944576		0.522	ENSG00000184148	14873	g.chr1:152944576C>T	keratinization|peptide cross-linking	cell cortex								66.716691	KEEP	19	16	-1	48	49	19	16	-1	72.620483	48	49	0.258929	1	0	0	0	0	0	0	1	0	--	--		0	T				35	GBM-06-0171-TP	p.A70A	C	GTCCCTCAGCCCAGCAAGCCT	NM_173080	NP_775103	152944576	Q96PI1	SPRR4_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.171)		2	273	+	T	T	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Silent	70			Gln-rich.			
SPRY4	0	broad.mit.edu	GRCh37	5	141694230	141694230	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5207-01	TCGA-28-5207-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000434127.2:c.444C>T	p.Val148=	p.V148=	ENST00000434127	NM_001127496.1	148	gtC/gtT	0			1			A	V	uc003lml.2	protein_coding		CCDS47296.1			444/900									ovary(1)|lung(1)	2	c.(442-444)GTC>GTT			hmmpanther:PTHR12365,hmmpanther:PTHR12365:SF6	sprouty homolog 4 isoform 2				ENSP00000399468		2-Feb									COSM2157352	2-Feb	.	Testicular_Cancer_Familial_Clustering_of	ENST00000434127	Transcript	1		multicellular organismal development	cytoplasm|ruffle membrane	protein binding	ENSG00000187678	g.chr5:141694230G>A	15533			LOW								--	--	1																																		SPRY4_uc010jgi.1_Silent_p.V171V	1				p.V148V	NM_001127496	NP_001120968			1	SPY4_HUMAN	SPRY4	HGNC	Q9C004	SPY4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		D6RB56_HUMAN		2	703	-		all_hematologic(541;0.118)	UPI00000015D0	148					SNV	SPRY4,synonymous_variant,p.=,ENST00000344120,NM_030964.3;SPRY4,synonymous_variant,p.=,ENST00000434127,NM_001127496.1;SPRY4,downstream_gene_variant,,ENST00000511815,;SPRY4,downstream_gene_variant,,ENST00000503582,;	uc003lml.2	c.444C>T	688/2379	2	2			c.444C>T						5	SNP	c.(442-444)GTC>GTT	33	33			ovary(1)|lung(1)	2	Broad	sprouty homolog 4 isoform 2			141694230	Testicular_Cancer_Familial_Clustering_of	0.652	ENSG00000187678	14876	g.chr5:141694230G>A	multicellular organismal development	cytoplasm|ruffle membrane	protein binding							153.954003	KEEP	25	44	-1	49	45	25	44	-1	155.071524	49	45	0.401515	1	0	0	0	0	0	0	1	0	--	--		0	A			SPRY4_uc010jgi.1_Silent_p.V171V	216	GBM-28-5207-TP	p.V148V	G	GCTCGGGTGGGACCGCCGGGC	NM_001127496	NP_001120968	141694230	Q9C004	SPY4_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	703	-	A	A		all_hematologic(541;0.118)	Silent	148						
SPSB1	80176	broad.mit.edu	GRCh37	1	9416221	9416221	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328089.6:c.271G>A	p.Val91Ile	p.V91I	ENST00000328089	NM_025106.3	91	Gtc/Atc	0			1			A	V/I	uc010oae.1	protein_coding	YES	CCDS102.1			271/822										0	c.(271-273)GTC>ATC			PROSITE_profiles:PS50188,hmmpanther:PTHR12245,hmmpanther:PTHR12245:SF8,Superfamily_domains:SSF49899	splA/ryanodine receptor domain and SOCS box				ENSP00000330221		3-Feb									COSM2150490	3-Feb	.		ENST00000328089	Transcript			intracellular signal transduction	cytoplasm		ENSG00000171621	g.chr1:9416221G>A	30628			MODERATE		0.8	neutral	getma.org/?cm=msa&ty=f&p=SPSB1_HUMAN&rb=33&re=231&var=V91I	getma.org/pdb.php?prot=SPSB1_HUMAN&from=33&to=231&var=V91I	getma.org/?cm=var&var=hg19,1,9416221,G,A&fts=all	V91I	--	--	1																																		SPSB1_uc001apv.2_Missense_Mutation_p.V91I	1	1		benign(0.001)	p.V91I	NM_025106	NP_079382		tolerated(0.26)	1	SPSB1_HUMAN	SPSB1	HGNC	Q96BD6	SPSB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)	A2A276_HUMAN		2	610	+	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	UPI000006D00B	91			B30.2/SPRY.		SNV	SPSB1,missense_variant,p.Val91Ile,ENST00000328089,NM_025106.3;SPSB1,missense_variant,p.Val91Ile,ENST00000357898,;SPSB1,missense_variant,p.Val91Ile,ENST00000377399,;SPSB1,missense_variant,p.Val91Ile,ENST00000450402,;	uc010oae.1	c.271G>A	612/3120	2	2			c.271G>A						1	SNP	c.(271-273)GTC>ATC	41	41				0	Broad	splA/ryanodine receptor domain and SOCS box			9416221		0.632	ENSG00000171621	14880	g.chr1:9416221G>A	intracellular signal transduction	cytoplasm								230.296996	KEEP	43	48	-1	81	70	43	48	-1	233.405166	81	70	0.370892	1	0	0	0	0	1	0	0	0	--	--		0	A			SPSB1_uc001apv.2_Missense_Mutation_p.V91I	39	GBM-06-0184-TP	p.V91I	G	CAGGGGCAAAGTCGGGTATAC	NM_025106	NP_079382	9416221	Q96BD6	SPSB1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)	2	610	+	A	A	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	Missense_Mutation	91			B30.2/SPRY.			
SPSB4	0	broad.mit.edu	GRCh37	3	140866045	140866045	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310546.2:c.756G>A	p.Gln252=	p.Q252=	ENST00000310546	NM_080862.1	252	caG/caA	0			1			A	Q	uc003ett.2	protein_coding	YES	CCDS3115.1			756/822										0	c.(754-756)CAG>CAA			Pfam_domain:PF07525,PROSITE_profiles:PS50225,hmmpanther:PTHR12245,hmmpanther:PTHR12245:SF3,SMART_domains:SM00969,Superfamily_domains:SSF158235	splA/ryanodine receptor domain and SOCS box				ENSP00000311609		3-Mar									COSM3408289	3-Mar	.		ENST00000310546	Transcript			intracellular signal transduction	cytoplasm	protein binding	ENSG00000175093	g.chr3:140866045G>A	30630			LOW								--	--	1																																		SPSB4_uc010hum.2_3'UTR	1	1			p.Q252Q	NM_080862	NP_543138			1	SPSB4_HUMAN	SPSB4	HGNC	Q96A44	SPSB4_HUMAN					3	1010	+			UPI00000734A4	252			SOCS box.		SNV	SPSB4,synonymous_variant,p.=,ENST00000310546,NM_080862.1;SPSB4,non_coding_transcript_exon_variant,,ENST00000507895,;SPSB4,3_prime_UTR_variant,,ENST00000508126,;	uc003ett.2	c.756G>A	1500/2908	2	2			c.756G>A						3	SNP	c.(754-756)CAG>CAA	48	48				0	Broad	splA/ryanodine receptor domain and SOCS box			140866045		0.617	ENSG00000175093	14883	g.chr3:140866045G>A	intracellular signal transduction	cytoplasm	protein binding							86.577244	KEEP	18	14	-1	16	24	18	14	-1	86.592996	16	24	0.517857	1	0	0	0	0	0	0	1	0	--	--		0	A			SPSB4_uc010hum.2_3'UTR	129	GBM-12-5295-TP	p.Q252Q	G	TGGGCCGCCAGCGCCTGCAGG	NM_080862	NP_543138	140866045	Q96A44	SPSB4_HUMAN	0			3	1010	+	A	A			Silent	252			SOCS box.			
SPTA1	6708	broad.mit.edu	GRCh37	1	158653172	158653172	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0155-01	TCGA-06-0155-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368147.4:c.379G>C	p.Glu127Gln	p.E127Q	ENST00000368147	NM_003126.2	127	Gaa/Caa	0			1			G	E/Q	uc001fst.1	protein_coding	YES	CCDS41423.1			379/7260									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	c.(379-381)GAA>CAA			Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,SMART_domains:SM00150,Superfamily_domains:SSF46966,Superfamily_domains:SSF46966	spectrin, alpha, erythrocytic 1				ENSP00000357129		Mar-52									COSM3399855	Mar-52	.		ENST00000368147	Transcript	1		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	ENSG00000163554	g.chr1:158653172C>G	11272			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=SPTA1_HUMAN&rb=53&re=156&var=E127Q	getma.org/pdb.php?prot=SPTA1_HUMAN&from=53&to=156&var=E127Q	getma.org/?cm=var&var=hg19,1,158653172,C,G&fts=all	E127Q	--	--	1																																			1	1		probably_damaging(0.939)	p.E127Q	NM_003126	NP_003117		deleterious(0.02)	1	SPTA1_HUMAN	SPTA1	HGNC	P02549	SPTA1_HUMAN			O60686_HUMAN		3	578	-	all_hematologic(112;0.0378)		UPI0000458906	127	Missing (in Ref. 3; AAA60575).		Spectrin 2.		SNV	SPTA1,missense_variant,p.Glu127Gln,ENST00000368147,NM_003126.2;SPTA1,intron_variant,,ENST00000467387,;	uc001fst.1	c.379G>C	560/7999	4	4			c.379G>C						1	SNP	c.(379-381)GAA>CAA	24	24			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	Broad	spectrin, alpha, erythrocytic 1			158653172		0.388	ENSG00000163554	14884	g.chr1:158653172C>G	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton							-58.203881	KEEP	2	5	-1	157	161	2	5	-1	13.476679	157	161	0.021429	1	0	0	0	0	1	0	0	0	--	--		0	G				27	GBM-06-0155-TP	p.E127Q	C	TTCGTTTCTTCGTGGGCAGAA	NM_003126	NP_003117	158653172	P02549	SPTA1_HUMAN	0			3	578	-	G	G	all_hematologic(112;0.0378)		Missense_Mutation	127	Missing (in Ref. 3; AAA60575).		Spectrin 2.			
SPTA1	6708	broad.mit.edu	GRCh37	1	158585171	158585171	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0157-01	TCGA-06-0157-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368147.4:c.6623C>T	p.Ala2208Val	p.A2208V	ENST00000368147	NM_003126.2	2208	gCg/gTg	0			1			A	A/V	uc001fst.1	protein_coding	YES	CCDS41423.1			6623/7260									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	c.(6622-6624)GCG>GTG			Gene3D:1.20.58.60,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin, alpha, erythrocytic 1				ENSP00000357129		48/52	3.31E-05					5.99E-05			rs751271842,COSM2150024	48/52	.		ENST00000368147	Transcript	1		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	ENSG00000163554	g.chr1:158585171G>A	11272			MODERATE		1.295	low	getma.org/?cm=msa&ty=f&p=SPTA1_HUMAN&rb=2157&re=2258&var=A2208V	NA	getma.org/?cm=var&var=hg19,1,158585171,G,A&fts=all	A2208V	--	--	1																																			0,1	1		benign(0.069)	p.A2208V	NM_003126	NP_003117		deleterious(0.04)	0,1	SPTA1_HUMAN	SPTA1	HGNC	P02549	SPTA1_HUMAN			O60686_HUMAN		48	6822	-	all_hematologic(112;0.0378)		UPI0000458906	2208			Spectrin 21.		SNV	SPTA1,missense_variant,p.Ala2208Val,ENST00000368147,NM_003126.2;SPTA1,upstream_gene_variant,,ENST00000485680,;SPTA1,non_coding_transcript_exon_variant,,ENST00000492934,;SPTA1,non_coding_transcript_exon_variant,,ENST00000498708,;SPTA1,downstream_gene_variant,,ENST00000484520,;SPTA1,upstream_gene_variant,,ENST00000481212,;	uc001fst.1	c.6623C>T	6804/7999	1	1			c.6623C>T						1	SNP	c.(6622-6624)GCG>GTG	51	51			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	Broad	spectrin, alpha, erythrocytic 1			158585171		0.468	ENSG00000163554	14884	g.chr1:158585171G>A	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton							217.644648	KEEP	34	60	-1	76	88	34	60	-1	221.464578	76	88	0.362445	1	0	0	0	0	1	0	0	0	--	--		0	A				28	GBM-06-0157-TP	p.A2208V	G	ACGCTTCATCGCCTGGATCTC	NM_003126	NP_003117	158585171	P02549	SPTA1_HUMAN	0			48	6822	-	A	A	all_hematologic(112;0.0378)		Missense_Mutation	2208			Spectrin 21.			
SPTA1	6708	broad.mit.edu	GRCh37	1	158622276	158622276	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0185-01	TCGA-06-0185-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368147.4:c.3356del	p.Lys1119SerfsTer9	p.K1119Sfs*9	ENST00000368147	NM_003126.2	1119	aAg/ag	0			1			-	K/X	uc001fst.1	protein_coding	YES	CCDS41423.1			3356/7260									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	c.(3355-3357)AAGfs			Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin, alpha, erythrocytic 1				ENSP00000357129		23/52									COSM2150513	23/52	.		ENST00000368147	Transcript	1		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	ENSG00000163554	g.chr1:158622276delT	11272			HIGH								--	--	1																																			1	1			p.K1119fs	NM_003126	NP_003117			1	SPTA1_HUMAN	SPTA1	HGNC	P02549	SPTA1_HUMAN			O60686_HUMAN		23	3555	-	all_hematologic(112;0.0378)		UPI0000458906	1119			Spectrin 11.		deletion	SPTA1,frameshift_variant,p.Lys1119SerfsTer9,ENST00000368147,NM_003126.2;	uc001fst.1	c.3356delA	3537/7999	5	5			c.3356delA						1	DEL	c.(3355-3357)AAGfs	61	61			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	Broad	spectrin, alpha, erythrocytic 1			158622276		0.398	ENSG00000163554	14884	g.chr1:158622276delT	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton																				0.4	1	1	0	1	0	0	0	0	0	--	--		0	-				40	GBM-06-0185-TP	p.K1119fs	T	CTCATCAAACTTTTTCTGCAG	NM_003126	NP_003117	158622276	P02549	SPTA1_HUMAN	0			23	3555	-	-	-	all_hematologic(112;0.0378)		Frame_Shift_Del	1119			Spectrin 11.			
SPTA1	6708	broad.mit.edu	GRCh37	1	158618368	158618368	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-06-0210-01	TCGA-06-0210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368147.4:c.3645G>C	p.Leu1215=	p.L1215=	ENST00000368147	NM_003126.2	1215	ctG/ctC	0			1			G	L	uc001fst.1	protein_coding	YES	CCDS41423.1			3645/7260									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	c.(3643-3645)CTG>CTC			Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,SMART_domains:SM00150	spectrin, alpha, erythrocytic 1				ENSP00000357129		26/52									COSM3399849	26/52	.		ENST00000368147	Transcript	1		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	ENSG00000163554	g.chr1:158618368C>G	11272			LOW								--	--	1																																			1	1			p.L1215L	NM_003126	NP_003117			1	SPTA1_HUMAN	SPTA1	HGNC	P02549	SPTA1_HUMAN			O60686_HUMAN		26	3844	-	all_hematologic(112;0.0378)		UPI0000458906	1215			Spectrin 12.		SNV	SPTA1,synonymous_variant,p.=,ENST00000368147,NM_003126.2;	uc001fst.1	c.3645G>C	3826/7999	3	3			c.3645G>C						1	SNP	c.(3643-3645)CTG>CTC	16	16			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	Broad	spectrin, alpha, erythrocytic 1			158618368		0.507	ENSG00000163554	14884	g.chr1:158618368C>G	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton							83.30056	KEEP	20	19	-1	104	108	20	19	-1	108.772933	104	108	0.155556	1	0	0	0	0	0	0	1	0	--	--		0	G				47	GBM-06-0210-TP	p.L1215L	C	GAACACTGAACAGATCTGAGC	NM_003126	NP_003117	158618368	P02549	SPTA1_HUMAN	0			26	3844	-	G	G	all_hematologic(112;0.0378)		Silent	1215			Spectrin 12.			
SPTA1	6708	broad.mit.edu	GRCh37	1	158627401	158627401	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0210-01	TCGA-06-0210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368147.4:c.2671C>T	p.Arg891Ter	p.R891*	ENST00000368147	NM_003126.2	891	Cga/Tga	0			1			A	R/*	uc001fst.1	protein_coding	YES	CCDS41423.1			2671/7260									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	c.(2671-2673)CGA>TGA			Gene3D:1.20.58.60,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin, alpha, erythrocytic 1				ENSP00000357129		19/52	8.27E-06					1.50E-05			rs755630903,COSM897821	19/52	.		ENST00000368147	Transcript	1		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	ENSG00000163554	g.chr1:158627401G>A	11272			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,158627401,G,A&fts=all	R891*	--	--	1																																			0,1	1			p.R891*	NM_003126	NP_003117			0,1	SPTA1_HUMAN	SPTA1	HGNC	P02549	SPTA1_HUMAN			O60686_HUMAN		19	2870	-	all_hematologic(112;0.0378)		UPI0000458906	891			Spectrin 9.		SNV	SPTA1,stop_gained,p.Arg891Ter,ENST00000368147,NM_003126.2;	uc001fst.1	c.2671C>T	2852/7999	5	2			c.2671C>T						1	SNP	c.(2671-2673)CGA>TGA	22	22			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	Broad	spectrin, alpha, erythrocytic 1			158627401		0.463	ENSG00000163554	14884	g.chr1:158627401G>A	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton							131.827562	KEEP	36	37	-1	147	149	36	37	-1	154.813887	147	149	0.212625	1	0	0	0	0	0	1	0	0	--	--		0	A				47	GBM-06-0210-TP	p.R891*	G	TCATTTTGTCGCCTAGCAGCT	NM_003126	NP_003117	158627401	P02549	SPTA1_HUMAN	0			19	2870	-	A	A	all_hematologic(112;0.0378)		Nonsense_Mutation	891			Spectrin 9.			
SPTA1	6708	broad.mit.edu	GRCh37	1	158639308	158639308	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01	TCGA-06-0214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368147.4:c.1723C>T	p.Arg575Cys	p.R575C	ENST00000368147	NM_003126.2	575	Cgt/Tgt	0			1			A	R/C	uc001fst.1	protein_coding	YES	CCDS41423.1			1723/7260									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	c.(1723-1725)CGT>TGT			Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Low_complexity_(Seg):seg,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin, alpha, erythrocytic 1				ENSP00000357129		14/52	8.27E-06		8.66E-05						rs747469591,COSM1747841	14/52	.		ENST00000368147	Transcript	1		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	ENSG00000163554	g.chr1:158639308G>A	11272			MODERATE		2.765	medium	getma.org/?cm=msa&ty=f&p=SPTA1_HUMAN&rb=476&re=580&var=R575C	getma.org/pdb.php?prot=SPTA1_HUMAN&from=476&to=580&var=R575C	getma.org/?cm=var&var=hg19,1,158639308,G,A&fts=all	R575C	--	--	1																																			0,1	1		probably_damaging(0.982)	p.R575C	NM_003126	NP_003117		deleterious(0)	0,1	SPTA1_HUMAN	SPTA1	HGNC	P02549	SPTA1_HUMAN			O60686_HUMAN		14	1922	-	all_hematologic(112;0.0378)		UPI0000458906	575			Spectrin 6.		SNV	SPTA1,missense_variant,p.Arg575Cys,ENST00000368147,NM_003126.2;	uc001fst.1	c.1723C>T	1904/7999	1	1			c.1723C>T						1	SNP	c.(1723-1725)CGT>TGT	63	63			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	Broad	spectrin, alpha, erythrocytic 1			158639308		0.448	ENSG00000163554	14884	g.chr1:158639308G>A	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton							269.625833	KEEP	61	55	-1	130	116	61	55	-1	276.932321	130	116	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	A				50	GBM-06-0214-TP	p.R575C	G	AGCAATCTACGTCTAGTGGCA	NM_003126	NP_003117	158639308	P02549	SPTA1_HUMAN	0			14	1922	-	A	A	all_hematologic(112;0.0378)		Missense_Mutation	575			Spectrin 6.			
SPTA1	6708	broad.mit.edu	GRCh37	1	158650498	158650498	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0238-01	TCGA-06-0238-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368147.4:c.553G>C	p.Glu185Gln	p.E185Q	ENST00000368147	NM_003126.2	185	Gag/Cag	0			1			G	E/Q	uc001fst.1	protein_coding	YES	CCDS41423.1			553/7260									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	c.(553-555)GAG>CAG			Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin, alpha, erythrocytic 1				ENSP00000357129		May-52									COSM1295295	May-52	.		ENST00000368147	Transcript	1		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	ENSG00000163554	g.chr1:158650498C>G	11272			MODERATE		3.115	medium	getma.org/?cm=msa&ty=f&p=SPTA1_HUMAN&rb=158&re=262&var=E185Q	getma.org/pdb.php?prot=SPTA1_HUMAN&from=158&to=262&var=E185Q	getma.org/?cm=var&var=hg19,1,158650498,C,G&fts=all	E185Q	--	--	1																																			1	1		probably_damaging(0.954)	p.E185Q	NM_003126	NP_003117		deleterious(0)	1	SPTA1_HUMAN	SPTA1	HGNC	P02549	SPTA1_HUMAN			O60686_HUMAN		5	752	-	all_hematologic(112;0.0378)		UPI0000458906	185			Spectrin 3.		SNV	SPTA1,missense_variant,p.Glu185Gln,ENST00000368147,NM_003126.2;SPTA1,intron_variant,,ENST00000467387,;	uc001fst.1	c.553G>C	734/7999	3	3			c.553G>C						1	SNP	c.(553-555)GAG>CAG	14	14			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	Broad	spectrin, alpha, erythrocytic 1			158650498		0.448	ENSG00000163554	14884	g.chr1:158650498C>G	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton							214.707009	KEEP	40	33	-1	43	77	40	33	-1	217.443315	43	77	0.364706	1	0	0	0	0	1	0	0	0	--	--		0	G				55	GBM-06-0238-TP	p.E185Q	C	TCACCTAGCTCCACTGATGTC	NM_003126	NP_003117	158650498	P02549	SPTA1_HUMAN	0			5	752	-	G	G	all_hematologic(112;0.0378)		Missense_Mutation	185			Spectrin 3.			
SPTA1	6708	broad.mit.edu	GRCh37	1	158615169	158615169	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01	TCGA-06-0939-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368147.4:c.4003C>T	p.Arg1335Cys	p.R1335C	ENST00000368147	NM_003126.2	1335	Cgt/Tgt	0			1			A	R/C	uc001fst.1	protein_coding	YES	CCDS41423.1			4003/7260									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	c.(4003-4005)CGT>TGT			Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin, alpha, erythrocytic 1				ENSP00000357129		29/52	3.31E-05					3.00E-05		0.000121	rs758705311,COSM2152412	29/52	.		ENST00000368147	Transcript	1		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	ENSG00000163554	g.chr1:158615169G>A	11272			MODERATE		2.07	medium	getma.org/?cm=msa&ty=f&p=SPTA1_HUMAN&rb=1289&re=1393&var=R1335C	getma.org/pdb.php?prot=SPTA1_HUMAN&from=1289&to=1393&var=R1335C	getma.org/?cm=var&var=hg19,1,158615169,G,A&fts=all	R1335C	--	--	1																																			0,1	1		probably_damaging(0.921)	p.R1335C	NM_003126	NP_003117		deleterious(0)	0,1	SPTA1_HUMAN	SPTA1	HGNC	P02549	SPTA1_HUMAN			O60686_HUMAN		29	4202	-	all_hematologic(112;0.0378)		UPI0000458906	1335			Spectrin 13.		SNV	SPTA1,missense_variant,p.Arg1335Cys,ENST00000368147,NM_003126.2;SPTA1,upstream_gene_variant,,ENST00000465741,;	uc001fst.1	c.4003C>T	4184/7999	2	2			c.4003C>T						1	SNP	c.(4003-4005)CGT>TGT	28	28			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	Broad	spectrin, alpha, erythrocytic 1			158615169		0.488	ENSG00000163554	14884	g.chr1:158615169G>A	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton							96.431083	KEEP	17	25	-1	45	51	17	25	-1	100.806858	45	51	0.292035	1	0	0	0	0	1	0	0	0	--	--		0	A				78	GBM-06-0939-TP	p.R1335C	G	ATGTCAGCACGGTGCTCCTGT	NM_003126	NP_003117	158615169	P02549	SPTA1_HUMAN	0			29	4202	-	A	A	all_hematologic(112;0.0378)		Missense_Mutation	1335			Spectrin 13.			
SPTA1	6708	broad.mit.edu	GRCh37	1	158654966	158654966	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01	TCGA-06-2559-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368147.4:c.196G>A	p.Gly66Arg	p.G66R	ENST00000368147	NM_003126.2	66	Ggg/Agg	0			1			T	G/R	uc001fst.1	protein_coding	YES	CCDS41423.1			196/7260									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	c.(196-198)GGG>AGG			Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin, alpha, erythrocytic 1				ENSP00000357129		Feb-52									COSM2152670	Feb-52	.		ENST00000368147	Transcript	1		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	ENSG00000163554	g.chr1:158654966C>T	11272			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=SPTA1_HUMAN&rb=53&re=156&var=G66R	getma.org/pdb.php?prot=SPTA1_HUMAN&from=53&to=156&var=G66R	getma.org/?cm=var&var=hg19,1,158654966,C,T&fts=all	G66R	--	--	1																																			1	1		benign(0.288)	p.G66R	NM_003126	NP_003117		deleterious(0.01)	1	SPTA1_HUMAN	SPTA1	HGNC	P02549	SPTA1_HUMAN			O60686_HUMAN		2	395	-	all_hematologic(112;0.0378)		UPI0000458906	66			Spectrin 2.		SNV	SPTA1,missense_variant,p.Gly66Arg,ENST00000368147,NM_003126.2;SPTA1,intron_variant,,ENST00000467387,;	uc001fst.1	c.196G>A	377/7999	2	2			c.196G>A						1	SNP	c.(196-198)GGG>AGG	41	41			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	Broad	spectrin, alpha, erythrocytic 1			158654966		0.299	ENSG00000163554	14884	g.chr1:158654966C>T	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton							184.441989	KEEP	33	25	-1	28	33	33	25	-1	184.469042	28	33	0.482759	1	0	0	0	0	1	0	0	0	--	--		0	T				83	GBM-06-2559-TP	p.G66R	C	ATCCACTtccccagatcatct	NM_003126	NP_003117	158654966	P02549	SPTA1_HUMAN	0			2	395	-	T	T	all_hematologic(112;0.0378)		Missense_Mutation	66			Spectrin 2.			
SPTA1	6708	broad.mit.edu	GRCh37	1	158592861	158592861	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5410-01	TCGA-06-5410-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368147.4:c.6032C>T	p.Ala2011Val	p.A2011V	ENST00000368147	NM_003126.2	2011	gCc/gTc	0			1			A	A/V	uc001fst.1	protein_coding	YES	CCDS41423.1			6032/7260									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	c.(6031-6033)GCC>GTC			Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin, alpha, erythrocytic 1				ENSP00000357129		43/52									COSM247582	43/52	.		ENST00000368147	Transcript	1		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	ENSG00000163554	g.chr1:158592861G>A	11272			MODERATE		2.095	medium	getma.org/?cm=msa&ty=f&p=SPTA1_HUMAN&rb=1928&re=2033&var=A2011V	getma.org/pdb.php?prot=SPTA1_HUMAN&from=1928&to=2033&var=A2011V	getma.org/?cm=var&var=hg19,1,158592861,G,A&fts=all	A2011V	--	--	1																																			1	1		benign(0.238)	p.A2011V	NM_003126	NP_003117		tolerated(0.11)	1	SPTA1_HUMAN	SPTA1	HGNC	P02549	SPTA1_HUMAN			O60686_HUMAN		43	6231	-	all_hematologic(112;0.0378)		UPI0000458906	2011			Spectrin 19.		SNV	SPTA1,missense_variant,p.Ala2011Val,ENST00000368147,NM_003126.2;SPTA1,non_coding_transcript_exon_variant,,ENST00000461624,;SPTA1,upstream_gene_variant,,ENST00000492934,;SPTA1,upstream_gene_variant,,ENST00000484520,;	uc001fst.1	c.6032C>T	6213/7999	2	2			c.6032C>T						1	SNP	c.(6031-6033)GCC>GTC	48	48			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	Broad	spectrin, alpha, erythrocytic 1			158592861		0.483	ENSG00000163554	14884	g.chr1:158592861G>A	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton							-125.152324	KEEP	3	5	-1	246	290	3	5	-1	9.698092	246	290	0.012121	1	0	0	0	0	1	0	0	0	--	--		0	A				93	GBM-06-5410-TP	p.A2011V	G	CAGCAGAGCGGCATAACGCTC	NM_003126	NP_003117	158592861	P02549	SPTA1_HUMAN	0			43	6231	-	A	A	all_hematologic(112;0.0378)		Missense_Mutation	2011			Spectrin 19.			
SPTA1	6708	broad.mit.edu	GRCh37	1	158592861	158592861	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6391-01	TCGA-06-6391-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368147.4:c.6032C>T	p.Ala2011Val	p.A2011V	ENST00000368147	NM_003126.2	2011	gCc/gTc	0			1			A	A/V	uc001fst.1	protein_coding	YES	CCDS41423.1			6032/7260									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	c.(6031-6033)GCC>GTC			Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin, alpha, erythrocytic 1				ENSP00000357129		43/52									COSM247582	43/52	.		ENST00000368147	Transcript	1		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	ENSG00000163554	g.chr1:158592861G>A	11272			MODERATE		2.095	medium	getma.org/?cm=msa&ty=f&p=SPTA1_HUMAN&rb=1928&re=2033&var=A2011V	getma.org/pdb.php?prot=SPTA1_HUMAN&from=1928&to=2033&var=A2011V	getma.org/?cm=var&var=hg19,1,158592861,G,A&fts=all	A2011V	--	--	1																																			1	1		benign(0.238)	p.A2011V	NM_003126	NP_003117		tolerated(0.11)	1	SPTA1_HUMAN	SPTA1	HGNC	P02549	SPTA1_HUMAN			O60686_HUMAN		43	6231	-	all_hematologic(112;0.0378)		UPI0000458906	2011			Spectrin 19.		SNV	SPTA1,missense_variant,p.Ala2011Val,ENST00000368147,NM_003126.2;SPTA1,non_coding_transcript_exon_variant,,ENST00000461624,;SPTA1,upstream_gene_variant,,ENST00000492934,;SPTA1,upstream_gene_variant,,ENST00000484520,;	uc001fst.1	c.6032C>T	6213/7999	2	2			c.6032C>T						1	SNP	c.(6031-6033)GCC>GTC	48	48			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	Broad	spectrin, alpha, erythrocytic 1			158592861		0.483	ENSG00000163554	14884	g.chr1:158592861G>A	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton							-114.58508	KEEP	2	4	-1	252	236	2	4	-1	7.117726	252	236	0.011261	1	0	0	0	0	1	0	0	0	--	--		0	A				107	GBM-06-6391-TP	p.A2011V	G	CAGCAGAGCGGCATAACGCTC	NM_003126	NP_003117	158592861	P02549	SPTA1_HUMAN	0			43	6231	-	A	A	all_hematologic(112;0.0378)		Missense_Mutation	2011			Spectrin 19.			
SPTA1	0	broad.mit.edu	GRCh37	1	158585037	158585037	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-12-0618-01	TCGA-12-0618-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368147.4:c.6757C>T	p.Gln2253Ter	p.Q2253*	ENST00000368147	NM_003126.2	2253	Caa/Taa	0			1			A	Q/*	uc001fst.1	protein_coding	YES	CCDS41423.1			6757/7260									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	c.(6757-6759)CAA>TAA			Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin, alpha, erythrocytic 1				ENSP00000357129		48/52									COSM2153602	48/52	.		ENST00000368147	Transcript	1		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	ENSG00000163554	g.chr1:158585037G>A	11272			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,158585037,G,A&fts=all	Q2253*	--	--	1																																			1	1			p.Q2253*	NM_003126	NP_003117			1	SPTA1_HUMAN	SPTA1	HGNC	P02549	SPTA1_HUMAN			O60686_HUMAN		48	6956	-	all_hematologic(112;0.0378)		UPI0000458906	2253			Spectrin 21.		SNV	SPTA1,stop_gained,p.Gln2253Ter,ENST00000368147,NM_003126.2;SPTA1,upstream_gene_variant,,ENST00000485680,;SPTA1,non_coding_transcript_exon_variant,,ENST00000492934,;SPTA1,non_coding_transcript_exon_variant,,ENST00000498708,;SPTA1,downstream_gene_variant,,ENST00000484520,;SPTA1,upstream_gene_variant,,ENST00000481212,;	uc001fst.1	c.6757C>T	6938/7999	5	1			c.6757C>T						1	SNP	c.(6757-6759)CAA>TAA	52	52			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	Broad	spectrin, alpha, erythrocytic 1			158585037		0.537	ENSG00000163554	14884	g.chr1:158585037G>A	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton							571.729129	KEEP	103	121	-1	103	124	103	121	-1	571.742362	103	124	0.493766	1	0	0	0	0	0	1	0	0	--	--		0	A				119	GBM-12-0618-TP	p.Q2253*	G	AGGTTGTGTTGCATCCGCAAC	NM_003126	NP_003117	158585037	P02549	SPTA1_HUMAN	0			48	6956	-	A	A	all_hematologic(112;0.0378)		Nonsense_Mutation	2253			Spectrin 21.			
SPTA1	0	broad.mit.edu	GRCh37	1	158641934	158641934	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01	TCGA-12-1597-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368147.4:c.1403G>A	p.Arg468His	p.R468H	ENST00000368147	NM_003126.2	468	cGt/cAt	0	T:0.0003		1			T	R/H	uc001fst.1	protein_coding	YES	CCDS41423.1			1403/7260									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	c.(1402-1404)CGT>CAT			Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,SMART_domains:SM00150,Superfamily_domains:SSF46966,Superfamily_domains:SSF46966	spectrin, alpha, erythrocytic 1			T:0	ENSP00000357129		Nov-52	3.31E-05	0.000102		0.000116	0.000152	1.50E-05			rs372937123,COSM676086	Nov-52	.		ENST00000368147	Transcript	1		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	ENSG00000163554	g.chr1:158641934C>T	11272			MODERATE		2.8	medium	getma.org/?cm=msa&ty=f&p=SPTA1_HUMAN&rb=370&re=474&var=R468H	getma.org/pdb.php?prot=SPTA1_HUMAN&from=370&to=474&var=R468H	getma.org/?cm=var&var=hg19,1,158641934,C,T&fts=all	R468H	--	--	1																																			0,1	1		probably_damaging(0.951)	p.R468H	NM_003126	NP_003117		deleterious(0)	0,1	SPTA1_HUMAN	SPTA1	HGNC	P02549	SPTA1_HUMAN			O60686_HUMAN		11	1602	-	all_hematologic(112;0.0378)		UPI0000458906	468			Spectrin 5.		SNV	SPTA1,missense_variant,p.Arg468His,ENST00000368147,NM_003126.2;	uc001fst.1	c.1403G>A	1584/7999	2	2			c.1403G>A						1	SNP	c.(1402-1404)CGT>CAT	24	24			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	Broad	spectrin, alpha, erythrocytic 1			158641934		0.438	ENSG00000163554	14884	g.chr1:158641934C>T	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton							35.246726	KEEP	8	10	-1	34	44	8	10	-1	43.830496	34	44	0.179775	1	0	0	0	0	1	0	0	0	--	--		0	T				124	GBM-12-1597-TP	p.R468H	C	CTGACGATGACGCTCGTCCCA	NM_003126	NP_003117	158641934	P02549	SPTA1_HUMAN	0			11	1602	-	T	T	all_hematologic(112;0.0378)		Missense_Mutation	468			Spectrin 5.			
SPTA1	0	broad.mit.edu	GRCh37	1	158655079	158655079	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121918641		TCGA-14-0790-01	TCGA-14-0790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368147.4:c.83G>A	p.Arg28His	p.R28H	ENST00000368147	NM_003126.2	28	cGt/cAt	0		T:0.0015	1	T:0		T	R/H	uc001fst.1	protein_coding	YES	CCDS41423.1			83/7260						pathogenic			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	c.(82-84)CGT>CAT			Gene3D:1.20.5.170,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Superfamily_domains:SSF46966	spectrin, alpha, erythrocytic 1		T:0		ENSP00000357129	T:0	Feb-52	2.48E-05	0.000306							rs121918641,COSM3399856	Feb-52	.		ENST00000368147	Transcript	1	T:0.0004	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	ENSG00000163554	g.chr1:158655079C>T	11272			MODERATE		2.415	medium	getma.org/?cm=msa&ty=f&p=SPTA1_HUMAN&rb=1&re=52&var=R28H	getma.org/pdb.php?prot=SPTA1_HUMAN&from=1&to=52&var=R28H	getma.org/?cm=var&var=hg19,1,158655079,C,T&fts=all	R28H	--	--	1																																			1,1	1		probably_damaging(0.997)	p.R28H	NM_003126	NP_003117	T:0	deleterious(0)	0,1	SPTA1_HUMAN	SPTA1	HGNC	P02549	SPTA1_HUMAN			O60686_HUMAN		2	282	-	all_hematologic(112;0.0378)		UPI0000458906	28		R -> C (in EL2).|R -> L (in EL2).	Spectrin 1.		SNV	SPTA1,missense_variant,p.Arg28His,ENST00000368147,NM_003126.2;SPTA1,missense_variant,p.Arg28His,ENST00000467387,;	uc001fst.1	c.83G>A	264/7999	2	2			c.83G>A						1	SNP	c.(82-84)CGT>CAT	46	46			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	Broad	spectrin, alpha, erythrocytic 1			158655079		0.348	ENSG00000163554	14884	g.chr1:158655079C>T	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton							202.154892	KEEP	36	46	-1	54	69	36	46	-1	204.059922	54	69	0.388571	1	0	0	0	0	1	0	0	0	--	--		0	T				137	GBM-14-0790-TP	p.R28H	C	CACTTCCTGACGCCTCTCCTG	NM_003126	NP_003117	158655079	P02549	SPTA1_HUMAN	0			2	282	-	T	T	all_hematologic(112;0.0378)		Missense_Mutation	28		R -> C (in EL2).|R -> L (in EL2).	Spectrin 1.			
SPTA1	0	broad.mit.edu	GRCh37	1	158617395	158617395	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1043-01	TCGA-14-1043-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368147.4:c.3830G>A	p.Arg1277His	p.R1277H	ENST00000368147	NM_003126.2	1277	cGt/cAt	0	T:0.0003		1			T	R/H	uc001fst.1	protein_coding	YES	CCDS41423.1			3830/7260									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	c.(3829-3831)CGT>CAT			Gene3D:1.20.58.60,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin, alpha, erythrocytic 1			T:0	ENSP00000357129		27/52	8.27E-05	0.000204				0.000105		6.06E-05	rs201407861,COSM265858	27/52	.		ENST00000368147	Transcript	1		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	ENSG00000163554	g.chr1:158617395C>T	11272			MODERATE		1.21	low	getma.org/?cm=msa&ty=f&p=SPTA1_HUMAN&rb=1183&re=1287&var=R1277H	getma.org/pdb.php?prot=SPTA1_HUMAN&from=1183&to=1287&var=R1277H	getma.org/?cm=var&var=hg19,1,158617395,C,T&fts=all	R1277H	--	--	1																																			0,1	1		benign(0.011)	p.R1277H	NM_003126	NP_003117		tolerated(0.15)	0,1	SPTA1_HUMAN	SPTA1	HGNC	P02549	SPTA1_HUMAN			O60686_HUMAN		27	4029	-	all_hematologic(112;0.0378)		UPI0000458906	1277			Spectrin 12.		SNV	SPTA1,missense_variant,p.Arg1277His,ENST00000368147,NM_003126.2;	uc001fst.1	c.3830G>A	4011/7999	2	2			c.3830G>A						1	SNP	c.(3829-3831)CGT>CAT	21	21			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	Broad	spectrin, alpha, erythrocytic 1			158617395		0.557	ENSG00000163554	14884	g.chr1:158617395C>T	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton							56.522256	KEEP	14	16	-1	49	41	14	16	-1	63.84135	49	41	0.229358	1	0	0	0	0	1	0	0	0	--	--		0	T				143	GBM-14-1043-TP	p.R1277H	C	ATCCTTTGTACGCCCCTGCAG	NM_003126	NP_003117	158617395	P02549	SPTA1_HUMAN	0			27	4029	-	T	T	all_hematologic(112;0.0378)		Missense_Mutation	1277			Spectrin 12.			
SPTA1	0	broad.mit.edu	GRCh37	1	158609712	158609712	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01	TCGA-26-5135-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368147.4:c.4823G>A	p.Arg1608His	p.R1608H	ENST00000368147	NM_003126.2	1608	cGt/cAt	0			1			T	R/H	uc001fst.1	protein_coding	YES	CCDS41423.1			4823/7260									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	c.(4822-4824)CGT>CAT			Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Superfamily_domains:SSF46966	spectrin, alpha, erythrocytic 1				ENSP00000357129		34/52	6.62E-05	0.000102		0.00058				0.000121	rs781244377,COSM2157070	34/52	common_variant		ENST00000368147	Transcript	1		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	ENSG00000163554	g.chr1:158609712C>T	11272			MODERATE		2.095	medium	getma.org/?cm=msa&ty=f&p=SPTA1_HUMAN&rb=1607&re=1711&var=R1608H	getma.org/pdb.php?prot=SPTA1_HUMAN&from=1607&to=1711&var=R1608H	getma.org/?cm=var&var=hg19,1,158609712,C,T&fts=all	R1608H	--	--	1																																			0,1	1		probably_damaging(1)	p.R1608H	NM_003126	NP_003117		deleterious(0.01)	0,1	SPTA1_HUMAN	SPTA1	HGNC	P02549	SPTA1_HUMAN			O60686_HUMAN		34	5022	-	all_hematologic(112;0.0378)		UPI0000458906	1608			Spectrin 16.		SNV	SPTA1,missense_variant,p.Arg1608His,ENST00000368147,NM_003126.2;SPTA1,non_coding_transcript_exon_variant,,ENST00000465741,;	uc001fst.1	c.4823G>A	5004/7999	2	2			c.4823G>A						1	SNP	c.(4822-4824)CGT>CAT	47	47			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	Broad	spectrin, alpha, erythrocytic 1			158609712		0.463	ENSG00000163554	14884	g.chr1:158609712C>T	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton							297.986535	KEEP	49	56	-1	81	76	49	56	-1	299.964725	81	76	0.405512	1	0	0	0	0	1	0	0	0	--	--		0	T				184	GBM-26-5135-TP	p.R1608H	C	CCTCTGTTGACGACTGGCCTC	NM_003126	NP_003117	158609712	P02549	SPTA1_HUMAN	0			34	5022	-	T	T	all_hematologic(112;0.0378)		Missense_Mutation	1608			Spectrin 16.			
SPTA1	0	broad.mit.edu	GRCh37	1	158626393	158626393	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-27-1835-01	TCGA-27-1835-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368147.4:c.2859C>G	p.Asp953Glu	p.D953E	ENST00000368147	NM_003126.2	953	gaC/gaG	0			1			C	D/E	uc001fst.1	protein_coding	YES	CCDS41423.1			2859/7260									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	c.(2857-2859)GAC>GAG			Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin, alpha, erythrocytic 1				ENSP00000357129		20/52									COSM1127318	20/52	.		ENST00000368147	Transcript	1		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	ENSG00000163554	g.chr1:158626393G>C	11272			MODERATE		0.145	neutral	getma.org/?cm=msa&ty=f&p=SPTA1_HUMAN&rb=899&re=980&var=D953E	getma.org/pdb.php?prot=SPTA1_HUMAN&from=899&to=980&var=D953E	getma.org/?cm=var&var=hg19,1,158626393,G,C&fts=all	D953E	--	--	1																																			1	1		benign(0.034)	p.D953E	NM_003126	NP_003117		tolerated(0.16)	1	SPTA1_HUMAN	SPTA1	HGNC	P02549	SPTA1_HUMAN			O60686_HUMAN		20	3058	-	all_hematologic(112;0.0378)		UPI0000458906	953			Spectrin 10.		SNV	SPTA1,missense_variant,p.Asp953Glu,ENST00000368147,NM_003126.2;	uc001fst.1	c.2859C>G	3040/7999	4	4			c.2859C>G						1	SNP	c.(2857-2859)GAC>GAG	36	36			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	Broad	spectrin, alpha, erythrocytic 1			158626393		0.413	ENSG00000163554	14884	g.chr1:158626393G>C	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton							339.726645	KEEP	46	70	-1	111	98	46	70	-1	344.977222	111	98	0.35461	1	0	0	0	0	1	0	0	0	--	--		0	C				194	GBM-27-1835-TP	p.D953E	G	CTTTCATACTGTCTCCAAATG	NM_003126	NP_003117	158626393	P02549	SPTA1_HUMAN	0			20	3058	-	C	C	all_hematologic(112;0.0378)		Missense_Mutation	953			Spectrin 10.			
SPTA1	0	broad.mit.edu	GRCh37	1	158632602	158632602	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01	TCGA-27-1835-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368147.4:c.2354G>A	p.Arg785Gln	p.R785Q	ENST00000368147	NM_003126.2	785	cGa/cAa	0			1			T	R/Q	uc001fst.1	protein_coding	YES	CCDS41423.1			2354/7260									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	c.(2353-2355)CGA>CAA			Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,SMART_domains:SM00150,Superfamily_domains:SSF46966,Superfamily_domains:SSF46966	spectrin, alpha, erythrocytic 1				ENSP00000357129		17/52									COSM897829	17/52	.		ENST00000368147	Transcript	1		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	ENSG00000163554	g.chr1:158632602C>T	11272			MODERATE		3.21	medium	getma.org/?cm=msa&ty=f&p=SPTA1_HUMAN&rb=687&re=791&var=R785Q	getma.org/pdb.php?prot=SPTA1_HUMAN&from=687&to=791&var=R785Q	getma.org/?cm=var&var=hg19,1,158632602,C,T&fts=all	R785Q	--	--	1																																			1	1		probably_damaging(0.999)	p.R785Q	NM_003126	NP_003117		deleterious(0.05)	1	SPTA1_HUMAN	SPTA1	HGNC	P02549	SPTA1_HUMAN			O60686_HUMAN		17	2553	-	all_hematologic(112;0.0378)		UPI0000458906	785			Spectrin 8.		SNV	SPTA1,missense_variant,p.Arg785Gln,ENST00000368147,NM_003126.2;	uc001fst.1	c.2354G>A	2535/7999	2	2			c.2354G>A						1	SNP	c.(2353-2355)CGA>CAA	34	34			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	Broad	spectrin, alpha, erythrocytic 1			158632602		0.478	ENSG00000163554	14884	g.chr1:158632602C>T	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton							126.445454	KEEP	29	17	-1	24	41	29	17	-1	126.822783	24	41	0.43299	1	0	0	0	0	1	0	0	0	--	--		0	T				194	GBM-27-1835-TP	p.R785Q	C	CTTCTTCTTTCGGGTGGCCAG	NM_003126	NP_003117	158632602	P02549	SPTA1_HUMAN	0			17	2553	-	T	T	all_hematologic(112;0.0378)		Missense_Mutation	785			Spectrin 8.			
SPTA1	0	broad.mit.edu	GRCh37	1	158615013	158615013	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368147.4:c.4159C>T	p.Arg1387Cys	p.R1387C	ENST00000368147	NM_003126.2	1387	Cgc/Tgc	0	A:0		1			A	R/C	uc001fst.1	protein_coding	YES	CCDS41423.1			4159/7260									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	c.(4159-4161)CGC>TGC			Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin, alpha, erythrocytic 1			A:0.0002	ENSP00000357129		29/52	7.45E-05		0.000174			5.99E-05		0.000182	rs372067263,COSM1986551	29/52	.		ENST00000368147	Transcript	1		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	ENSG00000163554	g.chr1:158615013G>A	11272			MODERATE		2.915	medium	getma.org/?cm=msa&ty=f&p=SPTA1_HUMAN&rb=1289&re=1393&var=R1387C	getma.org/pdb.php?prot=SPTA1_HUMAN&from=1289&to=1393&var=R1387C	getma.org/?cm=var&var=hg19,1,158615013,G,A&fts=all	R1387C	--	--	1																																			0,1	1		probably_damaging(1)	p.R1387C	NM_003126	NP_003117		deleterious(0)	0,1	SPTA1_HUMAN	SPTA1	HGNC	P02549	SPTA1_HUMAN			O60686_HUMAN		29	4358	-	all_hematologic(112;0.0378)		UPI0000458906	1387			Spectrin 13.		SNV	SPTA1,missense_variant,p.Arg1387Cys,ENST00000368147,NM_003126.2;SPTA1,upstream_gene_variant,,ENST00000465741,;	uc001fst.1	c.4159C>T	4340/7999	1	1			c.4159C>T						1	SNP	c.(4159-4161)CGC>TGC	59	59			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	Broad	spectrin, alpha, erythrocytic 1			158615013		0.433	ENSG00000163554	14884	g.chr1:158615013G>A	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton							320.172573	KEEP	69	67	-1	127	136	69	67	-1	327.177037	127	136	0.344512	1	0	0	0	0	1	0	0	0	--	--		0	A				197	GBM-27-1838-TP	p.R1387C	G	ATCTTCTTGCGTTTTTCCCAA	NM_003126	NP_003117	158615013	P02549	SPTA1_HUMAN	0			29	4358	-	A	A	all_hematologic(112;0.0378)		Missense_Mutation	1387			Spectrin 13.			
SPTA1	0	broad.mit.edu	GRCh37	1	158614117	158614117	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2528-01	TCGA-27-2528-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368147.4:c.4264G>A	p.Asp1422Asn	p.D1422N	ENST00000368147	NM_003126.2	1422	Gac/Aac	0			1			T	D/N	uc001fst.1	protein_coding	YES	CCDS41423.1			4264/7260									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	c.(4264-4266)GAC>AAC			Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Low_complexity_(Seg):seg,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin, alpha, erythrocytic 1				ENSP00000357129		30/52									COSM3399847	30/52	.		ENST00000368147	Transcript	1		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	ENSG00000163554	g.chr1:158614117C>T	11272			MODERATE		2.335	medium	getma.org/?cm=msa&ty=f&p=SPTA1_HUMAN&rb=1395&re=1498&var=D1422N	getma.org/pdb.php?prot=SPTA1_HUMAN&from=1395&to=1498&var=D1422N	getma.org/?cm=var&var=hg19,1,158614117,C,T&fts=all	D1422N	--	--	1																																			1	1		possibly_damaging(0.79)	p.D1422N	NM_003126	NP_003117		deleterious(0.01)	1	SPTA1_HUMAN	SPTA1	HGNC	P02549	SPTA1_HUMAN			O60686_HUMAN		30	4463	-	all_hematologic(112;0.0378)		UPI0000458906	1422			Spectrin 14.		SNV	SPTA1,missense_variant,p.Asp1422Asn,ENST00000368147,NM_003126.2;SPTA1,upstream_gene_variant,,ENST00000465741,;	uc001fst.1	c.4264G>A	4445/7999	2	2			c.4264G>A						1	SNP	c.(4264-4266)GAC>AAC	45	45			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	Broad	spectrin, alpha, erythrocytic 1			158614117		0.443	ENSG00000163554	14884	g.chr1:158614117C>T	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton							135.029634	KEEP	24	32	-1	45	51	24	32	-1	137.159804	45	51	0.365672	1	0	0	0	0	1	0	0	0	--	--		0	T				205	GBM-27-2528-TP	p.D1422N	C	GAACTTTTGTCATCTGACCTC	NM_003126	NP_003117	158614117	P02549	SPTA1_HUMAN	0			30	4463	-	T	T	all_hematologic(112;0.0378)		Missense_Mutation	1422			Spectrin 14.			
SPTA1	0	broad.mit.edu	GRCh37	1	158606471	158606471	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5213-01	TCGA-28-5213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368147.4:c.5270G>A	p.Arg1757His	p.R1757H	ENST00000368147	NM_003126.2	1757	cGc/cAc	0			1			T	R/H	uc001fst.1	protein_coding	YES	CCDS41423.1			5270/7260									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	c.(5269-5271)CGC>CAC			Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin, alpha, erythrocytic 1				ENSP00000357129		37/52	4.14E-05		8.67E-05			5.99E-05			rs779823270,COSM1986498	37/52	.		ENST00000368147	Transcript	1		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	ENSG00000163554	g.chr1:158606471C>T	11272			MODERATE		2	medium	getma.org/?cm=msa&ty=f&p=SPTA1_HUMAN&rb=1713&re=1817&var=R1757H	getma.org/pdb.php?prot=SPTA1_HUMAN&from=1713&to=1817&var=R1757H	getma.org/?cm=var&var=hg19,1,158606471,C,T&fts=all	R1757H	--	--	1																																			0,1	1		benign(0.141)	p.R1757H	NM_003126	NP_003117		tolerated(0.06)	0,1	SPTA1_HUMAN	SPTA1	HGNC	P02549	SPTA1_HUMAN			O60686_HUMAN		37	5469	-	all_hematologic(112;0.0378)		UPI0000458906	1757			Spectrin 17.		SNV	SPTA1,missense_variant,p.Arg1757His,ENST00000368147,NM_003126.2;SPTA1,upstream_gene_variant,,ENST00000461624,;SPTA1,downstream_gene_variant,,ENST00000465741,;	uc001fst.1	c.5270G>A	5451/7999	2	2			c.5270G>A						1	SNP	c.(5269-5271)CGC>CAC	30	30			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	Broad	spectrin, alpha, erythrocytic 1			158606471		0.383	ENSG00000163554	14884	g.chr1:158606471C>T	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton							156.760244	KEEP	44	35	-1	138	160	44	35	-1	180.317932	138	160	0.220183	1	0	0	0	0	1	0	0	0	--	--		0	T				220	GBM-28-5213-TP	p.R1757H	C	CCCCTCTAGGCGTTTGTGCTT	NM_003126	NP_003117	158606471	P02549	SPTA1_HUMAN	0			37	5469	-	T	T	all_hematologic(112;0.0378)		Missense_Mutation	1757			Spectrin 17.			
SPTA1	0	broad.mit.edu	GRCh37	1	158614180	158614180	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368147.4:c.4201C>G	p.Gln1401Glu	p.Q1401E	ENST00000368147	NM_003126.2	1401	Cag/Gag	0			1			C	Q/E	uc001fst.1	protein_coding	YES	CCDS41423.1			4201/7260									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	c.(4201-4203)CAG>GAG			Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin, alpha, erythrocytic 1				ENSP00000357129		30/52									COSM3399848	30/52	.		ENST00000368147	Transcript	1		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	ENSG00000163554	g.chr1:158614180G>C	11272			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=SPTA1_HUMAN&rb=1395&re=1498&var=Q1401E	getma.org/pdb.php?prot=SPTA1_HUMAN&from=1395&to=1498&var=Q1401E	getma.org/?cm=var&var=hg19,1,158614180,G,C&fts=all	Q1401E	--	--	1																																			1	1		benign(0.122)	p.Q1401E	NM_003126	NP_003117		tolerated(0.22)	1	SPTA1_HUMAN	SPTA1	HGNC	P02549	SPTA1_HUMAN			O60686_HUMAN		30	4400	-	all_hematologic(112;0.0378)		UPI0000458906	1401			Spectrin 14.		SNV	SPTA1,missense_variant,p.Gln1401Glu,ENST00000368147,NM_003126.2;SPTA1,upstream_gene_variant,,ENST00000465741,;	uc001fst.1	c.4201C>G	4382/7999	3	3			c.4201C>G						1	SNP	c.(4201-4203)CAG>GAG	54	54			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	Broad	spectrin, alpha, erythrocytic 1			158614180		0.453	ENSG00000163554	14884	g.chr1:158614180G>C	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton							71.741508	KEEP	19	12	-1	54	41	19	12	-1	77.932972	54	41	0.252252	1	0	0	0	0	1	0	0	0	--	--		0	C				240	GBM-32-2632-TP	p.Q1401E	G	CAGTTCCCCTGGAACATCTAT	NM_003126	NP_003117	158614180	P02549	SPTA1_HUMAN	0			30	4400	-	C	C	all_hematologic(112;0.0378)		Missense_Mutation	1401			Spectrin 14.			
SPTA1	0	broad.mit.edu	GRCh37	1	158647548	158647548	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368147.4:c.889G>C	p.Val297Leu	p.V297L	ENST00000368147	NM_003126.2	297	Gtt/Ctt	0			1			G	V/L	uc001fst.1	protein_coding	YES	CCDS41423.1			889/7260									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	c.(889-891)GTT>CTT			Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin, alpha, erythrocytic 1				ENSP00000357129		Jul-52									COSM3399853	Jul-52	.		ENST00000368147	Transcript	1		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	ENSG00000163554	g.chr1:158647548C>G	11272			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=SPTA1_HUMAN&rb=264&re=368&var=V297L	getma.org/pdb.php?prot=SPTA1_HUMAN&from=264&to=368&var=V297L	getma.org/?cm=var&var=hg19,1,158647548,C,G&fts=all	V297L	--	--	1																																			1	1		benign(0.292)	p.V297L	NM_003126	NP_003117		tolerated(0.13)	1	SPTA1_HUMAN	SPTA1	HGNC	P02549	SPTA1_HUMAN			O60686_HUMAN		7	1088	-	all_hematologic(112;0.0378)		UPI0000458906	297			Spectrin 4.		SNV	SPTA1,missense_variant,p.Val297Leu,ENST00000368147,NM_003126.2;SPTA1,missense_variant,p.Val115Leu,ENST00000467387,;	uc001fst.1	c.889G>C	1070/7999	3	3			c.889G>C						1	SNP	c.(889-891)GTT>CTT	54	54			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	Broad	spectrin, alpha, erythrocytic 1			158647548		0.478	ENSG00000163554	14884	g.chr1:158647548C>G	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton							-18.770685	KEEP	2	2	-1	48	59	2	2	-1	6.633093	48	59	0.028846	1	0	0	0	0	1	0	0	0	--	--		0	G				246	GBM-32-4211-TP	p.V297L	C	TCAGAGGCAACAAGGTCTTTG	NM_003126	NP_003117	158647548	P02549	SPTA1_HUMAN	0			7	1088	-	G	G	all_hematologic(112;0.0378)		Missense_Mutation	297			Spectrin 4.			
SPTA1	0	broad.mit.edu	GRCh37	1	158632643	158632643	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-5222-01	TCGA-32-5222-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368147.4:c.2313G>C	p.Leu771Phe	p.L771F	ENST00000368147	NM_003126.2	771	ttG/ttC	0			1			G	L/F	uc001fst.1	protein_coding	YES	CCDS41423.1			2313/7260									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	c.(2311-2313)TTG>TTC			Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,SMART_domains:SM00150,Superfamily_domains:SSF46966,Superfamily_domains:SSF46966	spectrin, alpha, erythrocytic 1				ENSP00000357129		17/52									COSM3399851	17/52	.		ENST00000368147	Transcript	1		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	ENSG00000163554	g.chr1:158632643C>G	11272			MODERATE		2.755	medium	getma.org/?cm=msa&ty=f&p=SPTA1_HUMAN&rb=687&re=791&var=L771F	getma.org/pdb.php?prot=SPTA1_HUMAN&from=687&to=791&var=L771F	getma.org/?cm=var&var=hg19,1,158632643,C,G&fts=all	L771F	--	--	1																																			1	1		probably_damaging(1)	p.L771F	NM_003126	NP_003117		deleterious(0)	1	SPTA1_HUMAN	SPTA1	HGNC	P02549	SPTA1_HUMAN			O60686_HUMAN		17	2512	-	all_hematologic(112;0.0378)		UPI0000458906	771			Spectrin 8.		SNV	SPTA1,missense_variant,p.Leu771Phe,ENST00000368147,NM_003126.2;	uc001fst.1	c.2313G>C	2494/7999	3	3			c.2313G>C						1	SNP	c.(2311-2313)TTG>TTC	50	50			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	Broad	spectrin, alpha, erythrocytic 1			158632643		0.468	ENSG00000163554	14884	g.chr1:158632643C>G	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton							390.647148	KEEP	63	71	-1	46	68	63	71	-1	390.837846	46	68	0.531532	1	0	0	0	0	1	0	0	0	--	--		0	G				249	GBM-32-5222-TP	p.L771F	C	ATCGGCATACCAAGGACTCTT	NM_003126	NP_003117	158632643	P02549	SPTA1_HUMAN	0			17	2512	-	G	G	all_hematologic(112;0.0378)		Missense_Mutation	771			Spectrin 8.			
SPTA1	0	broad.mit.edu	GRCh37	1	158604390	158604390	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-41-3392-01	TCGA-41-3392-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368147.4:c.5508T>G	p.Asn1836Lys	p.N1836K	ENST00000368147	NM_003126.2	1836	aaT/aaG	0			1			C	N/K	uc001fst.1	protein_coding	YES	CCDS41423.1			5508/7260									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	c.(5506-5508)AAT>AAG			Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin, alpha, erythrocytic 1				ENSP00000357129		39/52									COSM3399846	39/52	.		ENST00000368147	Transcript	1		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	ENSG00000163554	g.chr1:158604390A>C	11272			MODERATE		0.025	neutral	getma.org/?cm=msa&ty=f&p=SPTA1_HUMAN&rb=1819&re=1926&var=N1836K	getma.org/pdb.php?prot=SPTA1_HUMAN&from=1819&to=1926&var=N1836K	getma.org/?cm=var&var=hg19,1,158604390,A,C&fts=all	N1836K	--	--	1																																			1	1		benign(0.005)	p.N1836K	NM_003126	NP_003117		tolerated(0.15)	1	SPTA1_HUMAN	SPTA1	HGNC	P02549	SPTA1_HUMAN			O60686_HUMAN		39	5707	-	all_hematologic(112;0.0378)		UPI0000458906	1836			Spectrin 18.		SNV	SPTA1,missense_variant,p.Asn1836Lys,ENST00000368147,NM_003126.2;SPTA1,non_coding_transcript_exon_variant,,ENST00000461624,;SPTA1,downstream_gene_variant,,ENST00000465741,;	uc001fst.1	c.5508T>G	5689/7999	3	3			c.5508T>G						1	SNP	c.(5506-5508)AAT>AAG	62	62			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	Broad	spectrin, alpha, erythrocytic 1			158604390		0.418	ENSG00000163554	14884	g.chr1:158604390A>C	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton							-48.267067	KEEP	6	1	-1	133	152	6	1	-1	14.962958	133	152	0.023904	1	0	0	0	0	1	0	0	0	--	--		0	C				254	GBM-41-3392-TP	p.N1836K	A	CATTCTTTTCATTGATCCAAG	NM_003126	NP_003117	158604390	P02549	SPTA1_HUMAN	0			39	5707	-	C	C	all_hematologic(112;0.0378)		Missense_Mutation	1836			Spectrin 18.			
SPTA1	0	broad.mit.edu	GRCh37	1	158627401	158627401	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-41-5651-01	TCGA-41-5651-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368147.4:c.2671C>T	p.Arg891Ter	p.R891*	ENST00000368147	NM_003126.2	891	Cga/Tga	0			1			A	R/*	uc001fst.1	protein_coding	YES	CCDS41423.1			2671/7260									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	c.(2671-2673)CGA>TGA			Gene3D:1.20.58.60,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin, alpha, erythrocytic 1				ENSP00000357129		19/52	8.27E-06					1.50E-05			rs755630903,COSM897821	19/52	.		ENST00000368147	Transcript	1		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	ENSG00000163554	g.chr1:158627401G>A	11272			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,158627401,G,A&fts=all	R891*	--	--	1																																			0,1	1			p.R891*	NM_003126	NP_003117			0,1	SPTA1_HUMAN	SPTA1	HGNC	P02549	SPTA1_HUMAN			O60686_HUMAN		19	2870	-	all_hematologic(112;0.0378)		UPI0000458906	891			Spectrin 9.		SNV	SPTA1,stop_gained,p.Arg891Ter,ENST00000368147,NM_003126.2;	uc001fst.1	c.2671C>T	2852/7999	5	2			c.2671C>T						1	SNP	c.(2671-2673)CGA>TGA	22	22			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	Broad	spectrin, alpha, erythrocytic 1			158627401		0.463	ENSG00000163554	14884	g.chr1:158627401G>A	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton							45.099952	KEEP	14	13	-1	67	61	14	13	-1	59.29564	67	61	0.174825	1	0	0	0	0	0	1	0	0	--	--		0	A				258	GBM-41-5651-TP	p.R891*	G	TCATTTTGTCGCCTAGCAGCT	NM_003126	NP_003117	158627401	P02549	SPTA1_HUMAN	0			19	2870	-	A	A	all_hematologic(112;0.0378)		Nonsense_Mutation	891			Spectrin 9.			
SPTA1	0	broad.mit.edu	GRCh37	1	158637763	158637763	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-41-5651-01	TCGA-41-5651-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368147.4:c.1923G>C	p.Gln641His	p.Q641H	ENST00000368147	NM_003126.2	641	caG/caC	0			1			G	Q/H	uc001fst.1	protein_coding	YES	CCDS41423.1			1923/7260									ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	c.(1921-1923)CAG>CAC			Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin, alpha, erythrocytic 1				ENSP00000357129		15/52									COSM3399852	15/52	.		ENST00000368147	Transcript	1		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	ENSG00000163554	g.chr1:158637763C>G	11272			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=SPTA1_HUMAN&rb=582&re=685&var=Q641H	getma.org/pdb.php?prot=SPTA1_HUMAN&from=582&to=685&var=Q641H	getma.org/?cm=var&var=hg19,1,158637763,C,G&fts=all	Q641H	--	--	1																																			1	1		possibly_damaging(0.633)	p.Q641H	NM_003126	NP_003117		tolerated(0.07)	1	SPTA1_HUMAN	SPTA1	HGNC	P02549	SPTA1_HUMAN			O60686_HUMAN		15	2122	-	all_hematologic(112;0.0378)		UPI0000458906	641			Spectrin 7.		SNV	SPTA1,missense_variant,p.Gln641His,ENST00000368147,NM_003126.2;	uc001fst.1	c.1923G>C	2104/7999	3	3			c.1923G>C						1	SNP	c.(1921-1923)CAG>CAC	11	11			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	Broad	spectrin, alpha, erythrocytic 1			158637763		0.473	ENSG00000163554	14884	g.chr1:158637763C>G	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton							311.450016	KEEP	43	41	-1	16	20	43	41	-1	315.826824	16	20	0.707965	1	0	0	0	0	1	0	0	0	--	--		0	G				258	GBM-41-5651-TP	p.Q641H	C	GGCCAGTTTTCTGTATGTTTT	NM_003126	NP_003117	158637763	P02549	SPTA1_HUMAN	0			15	2122	-	G	G	all_hematologic(112;0.0378)		Missense_Mutation	641			Spectrin 7.			
SPTA1	6708		GRCh37	1	158621161	158621161	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000368147.4:c.3473G>A	p.Arg1158Gln	p.R1158Q	ENST00000368147	NM_003126.2	1158	cGg/cAg	0																																																																																																																																																																																																																																												
SPTA1	6708		GRCh37	1	158651339	158651339	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000368147.4:c.509T>C	p.Ile170Thr	p.I170T	ENST00000368147	NM_003126.2	170	aTc/aCc	0																																																																																																																																																																																																																																												
SPTAN1	6709	broad.mit.edu	GRCh37	9	131395212	131395212	+	missense_variant	Missense_Mutation	SNP	T	T	A	rs148173166		TCGA-06-0158-01	TCGA-06-0158-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372739.3:c.7286T>A	p.Val2429Glu	p.V2429E	ENST00000372739	NM_001130438.2	2429	gTg/gAg	0			1			A	V/E	uc004bvl.3	protein_coding		CCDS6905.1			7271/7419									breast(5)|ovary(4)|pancreas(1)	10	c.(7270-7272)GTG>GAG			Gene3D:1.10.238.10,Pfam_domain:PF08726,PROSITE_profiles:PS50222,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF250,Superfamily_domains:SSF47473	spectrin, alpha, non-erythrocytic 1				ENSP00000361816		55/56									COSM3413370,COSM3413369	55/56	.		ENST00000372731	Transcript	1		actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	ENSG00000197694	g.chr9:131395212T>A	11273			MODERATE		2.8	medium	getma.org/?cm=msa&ty=f&p=SPTA2_HUMAN&rb=2402&re=2471&var=V2424E	getma.org/pdb.php?prot=SPTA2_HUMAN&from=2402&to=2471&var=V2424E	getma.org/?cm=var&var=hg19,9,131395212,T,A&fts=all	V2424E	--	--	1																																		SPTAN1_uc004bvm.3_Missense_Mutation_p.V2429E|SPTAN1_uc004bvn.3_Missense_Mutation_p.V2404E|SPTAN1_uc004bvo.3_Missense_Mutation_p.V191E|SPTAN1_uc004bvp.3_Missense_Mutation_p.V167E	1,1			benign(0.003)	p.V2424E	NM_003127	NP_003118		deleterious(0)	1,1	SPTN1_HUMAN	SPTAN1	HGNC	Q13813	SPTA2_HUMAN					55	7384	+			UPI000022DA2E	2424			EF-hand 3.		SNV	SPTAN1,missense_variant,p.Val2429Glu,ENST00000372739,NM_001130438.2;SPTAN1,missense_variant,p.Val2429Glu,ENST00000358161,;SPTAN1,missense_variant,p.Val2424Glu,ENST00000372731,NM_003127.3,NM_001195532.1;WDR34,downstream_gene_variant,,ENST00000372715,NM_052844.3;WDR34,downstream_gene_variant,,ENST00000451652,;WDR34,downstream_gene_variant,,ENST00000419989,;WDR34,downstream_gene_variant,,ENST00000483181,;WDR34,downstream_gene_variant,,ENST00000480613,;WDR34,downstream_gene_variant,,ENST00000473486,;	uc004bvl.3	c.7271T>A	7381/7857	1	1			c.7271T>A						9	SNP	c.(7270-7272)GTG>GAG	60	60			breast(5)|ovary(4)|pancreas(1)	10	Broad	spectrin, alpha, non-erythrocytic 1			131395212		0.547	ENSG00000197694	14885	g.chr9:131395212T>A	actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	NSCLC(120;833 1744 2558 35612 37579)		1105	NSCLC(120;833 1744 2558 35612 37579)		1105	-9.566053	KEEP	6	13	-1	149	132	6	13	-1	41.9016	149	132	0.067669	1	0	0	0	0	1	0	0	0	--	--		0	A			SPTAN1_uc004bvm.3_Missense_Mutation_p.V2429E|SPTAN1_uc004bvn.3_Missense_Mutation_p.V2404E|SPTAN1_uc004bvo.3_Missense_Mutation_p.V191E|SPTAN1_uc004bvp.3_Missense_Mutation_p.V167E	29	GBM-06-0158-TP	p.V2424E	T	AAGCCTTACGTGACCAAGGAG	NM_003127	NP_003118	131395212	Q13813	SPTA2_HUMAN	0			55	7384	+	A	A			Missense_Mutation	2424			EF-hand 3.			
SPTAN1	6709		GRCh37	9	131381157	131381157	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000372739.3:c.5608C>T	p.Arg1870Trp	p.R1870W	ENST00000372739	NM_001130438.2	1870	Cgg/Tgg	0																																																																																																																																																																																																																																												
SPTBN1	6711	broad.mit.edu	GRCh37	2	54852086	54852086	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01	TCGA-02-0047-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356805.4:c.1328G>A	p.Arg443His	p.R443H	ENST00000356805	NM_003128.2	443	cGt/cAt	0			1			A	R/H	uc002rxu.2	protein_coding	YES	CCDS33198.1			1328/7095									ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8	c.(1327-1329)CGT>CAT			Gene3D:1.20.58.60,Pfam_domain:PF00435,PIRSF_domain:PIRSF002297,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF226,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin, beta, non-erythrocytic 1 isoform 1				ENSP00000349259		Nov-36	8.24E-06				0.000151				rs772259760,COSM2149008,COSM2149009	Nov-36	.		ENST00000356805	Transcript			actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	ENSG00000115306	g.chr2:54852086G>A	11275			MODERATE		2.165	medium	getma.org/?cm=msa&ty=f&p=SPTB2_HUMAN&rb=422&re=526&var=R443H	getma.org/pdb.php?prot=SPTB2_HUMAN&from=422&to=526&var=R443H	getma.org/?cm=var&var=hg19,2,54852086,G,A&fts=all	R443H	--	--	1																																		SPTBN1_uc002rxv.1_Missense_Mutation_p.R443H|SPTBN1_uc002rxx.2_Missense_Mutation_p.R430H	0,1,1	1		probably_damaging(0.998)	p.R443H	NM_003128	NP_003119		deleterious(0.02)	0,1,1	SPTB2_HUMAN	SPTBN1	HGNC	Q01082	SPTB2_HUMAN	Lung(47;0.24)		Q53RC4_HUMAN,F8W6C1_HUMAN,D6W5C0_HUMAN,B2ZZ89_HUMAN		11	1577	+			UPI0000DBEE4B	443			Spectrin 2.		SNV	SPTBN1,missense_variant,p.Arg430His,ENST00000333896,NM_178313.2;SPTBN1,missense_variant,p.Arg443His,ENST00000356805,NM_003128.2;SPTBN1,missense_variant,p.Arg443His,ENST00000389980,;	uc002rxu.2	c.1328G>A	1609/8482	2	2			c.1328G>A						2	SNP	c.(1327-1329)CGT>CAT	46	46			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8	Broad	spectrin, beta, non-erythrocytic 1 isoform 1			54852086		0.507	ENSG00000115306	14887	g.chr2:54852086G>A	actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton							58.75836	KEEP	14	13	-1	32	45	14	13	-1	63.185534	32	45	0.266667	1	0	0	0	0	1	0	0	0	--	--		0	A			SPTBN1_uc002rxv.1_Missense_Mutation_p.R443H|SPTBN1_uc002rxx.2_Missense_Mutation_p.R430H	3	GBM-02-0047-TP	p.R443H	G	GAAAACCAGCGTCTGGTGTCT	NM_003128	NP_003119	54852086	Q01082	SPTB2_HUMAN	0	Lung(47;0.24)		11	1577	+	A	A			Missense_Mutation	443			Spectrin 2.			
SPTBN1	6711	broad.mit.edu	GRCh37	2	54857158	54857158	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-02-2483-01	TCGA-02-2483-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356805.4:c.2799C>A	p.Leu933=	p.L933=	ENST00000356805	NM_003128.2	933	ctC/ctA	0			1			A	L	uc002rxu.2	protein_coding	YES	CCDS33198.1			2799/7095									ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8	c.(2797-2799)CTC>CTA			Gene3D:1.20.58.60,Pfam_domain:PF00435,PIRSF_domain:PIRSF002297,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF226,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin, beta, non-erythrocytic 1 isoform 1				ENSP00000349259		15/36									COSM2149136,COSM2149137	15/36	.		ENST00000356805	Transcript			actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	ENSG00000115306	g.chr2:54857158C>A	11275			LOW								--	--	1																																		SPTBN1_uc002rxx.2_Silent_p.L920L	1,1	1			p.L933L	NM_003128	NP_003119			1,1	SPTB2_HUMAN	SPTBN1	HGNC	Q01082	SPTB2_HUMAN	Lung(47;0.24)		Q53RC4_HUMAN,F8W6C1_HUMAN,D6W5C0_HUMAN,B2ZZ89_HUMAN		15	3048	+			UPI0000DBEE4B	933			Spectrin 7.		SNV	SPTBN1,synonymous_variant,p.=,ENST00000333896,NM_178313.2;SPTBN1,synonymous_variant,p.=,ENST00000356805,NM_003128.2;SPTBN1,downstream_gene_variant,,ENST00000389980,;	uc002rxu.2	c.2799C>A	3080/8482	1	1			c.2799C>A						2	SNP	c.(2797-2799)CTC>CTA	62	62			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8	Broad	spectrin, beta, non-erythrocytic 1 isoform 1			54857158		0.582	ENSG00000115306	14887	g.chr2:54857158C>A	actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton							45.486666	KEEP	10	8	0.444444444	13	16	10	8	0.444444444	46.207076	13	16	0.363636	1	0	0	0	0	0	0	1	0	--	--		0	A			SPTBN1_uc002rxx.2_Silent_p.L920L	6	GBM-02-2483-TP	p.L933L	C	AGGACAAACTCAACACAAGGT	NM_003128	NP_003119	54857158	Q01082	SPTB2_HUMAN	0	Lung(47;0.24)		15	3048	+	A	A			Silent	933			Spectrin 7.			
SPTBN1	6711	broad.mit.edu	GRCh37	2	54856719	54856719	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5418-01	TCGA-06-5418-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356805.4:c.2448G>A	p.Glu816=	p.E816=	ENST00000356805	NM_003128.2	816	gaG/gaA	0			1			A	E	uc002rxu.2	protein_coding	YES	CCDS33198.1			2448/7095									ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8	c.(2446-2448)GAG>GAA			Gene3D:1.20.58.60,Pfam_domain:PF00435,PIRSF_domain:PIRSF002297,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF226,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin, beta, non-erythrocytic 1 isoform 1				ENSP00000349259		14/36									COSM2153323,COSM2153324	14/36	.		ENST00000356805	Transcript			actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	ENSG00000115306	g.chr2:54856719G>A	11275			LOW								--	--	1																																		SPTBN1_uc002rxv.1_Silent_p.E816E|SPTBN1_uc002rxx.2_Silent_p.E803E	1,1	1			p.E816E	NM_003128	NP_003119			1,1	SPTB2_HUMAN	SPTBN1	HGNC	Q01082	SPTB2_HUMAN	Lung(47;0.24)		Q53RC4_HUMAN,F8W6C1_HUMAN,D6W5C0_HUMAN,B2ZZ89_HUMAN		14	2697	+			UPI0000DBEE4B	816			Spectrin 5.		SNV	SPTBN1,synonymous_variant,p.=,ENST00000333896,NM_178313.2;SPTBN1,synonymous_variant,p.=,ENST00000356805,NM_003128.2;SPTBN1,downstream_gene_variant,,ENST00000389980,;	uc002rxu.2	c.2448G>A	2729/8482	1	1			c.2448G>A						2	SNP	c.(2446-2448)GAG>GAA	61	61			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8	Broad	spectrin, beta, non-erythrocytic 1 isoform 1			54856719		0.627	ENSG00000115306	14887	g.chr2:54856719G>A	actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton							147.597526	KEEP	24	36	-1	43	51	24	36	-1	148.187942	43	51	0.425	1	0	0	0	0	0	0	1	0	--	--		0	A			SPTBN1_uc002rxv.1_Silent_p.E816E|SPTBN1_uc002rxx.2_Silent_p.E803E	100	GBM-06-5418-TP	p.E816E	G	AGCATGCCGAGTCTCCAGACG	NM_003128	NP_003119	54856719	Q01082	SPTB2_HUMAN	0	Lung(47;0.24)		14	2697	+	A	A			Silent	816			Spectrin 5.			
SPTBN4	57731	broad.mit.edu	GRCh37	19	41009787	41009787	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000352632.3:c.1413C>T	p.His471=	p.H471=	ENST00000352632		471	caC/caT	0			1			T	H	uc002ony.2	protein_coding	YES	CCDS12559.1			1413/7695									ovary(3)|central_nervous_system(1)|skin(1)	5	c.(1411-1413)CAC>CAT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915:SF232,hmmpanther:PTHR11915,Gene3D:1.20.58.60,Pfam_domain:PF00435,PIRSF_domain:PIRSF002297,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin, beta, non-erythrocytic 4 isoform				ENSP00000263373		Dec-36	3.30E-05		8.92E-05			3.14E-05		7.18E-05	rs777037117,COSM1525248,COSM3404238	Dec-36	.		ENST00000352632	Transcript			actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	ENSG00000160460	g.chr19:41009787C>T	14896			LOW								--	--	1																																		SPTBN4_uc002onx.2_Silent_p.H471H|SPTBN4_uc002onz.2_Silent_p.H471H	0,1,1	1			p.H471H	NM_020971	NP_066022			0,1,1	SPTN4_HUMAN	SPTBN4	HGNC	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)				12	1499	+			UPI0000135DBB	471			Spectrin 3.		SNV	SPTBN4,synonymous_variant,p.=,ENST00000352632,;SPTBN4,synonymous_variant,p.=,ENST00000598249,NM_020971.2;SPTBN4,synonymous_variant,p.=,ENST00000338932,;SPTBN4,synonymous_variant,p.=,ENST00000595535,;SPTBN4,synonymous_variant,p.=,ENST00000344104,;SPTBN4,downstream_gene_variant,,ENST00000598775,;	uc002ony.2	c.1413C>T	1499/8676	1	1			c.1413C>T						19	SNP	c.(1411-1413)CAC>CAT	15	15			ovary(3)|central_nervous_system(1)|skin(1)	5	Broad	spectrin, beta, non-erythrocytic 4 isoform			41009787		0.622	ENSG00000160460	14889	g.chr19:41009787C>T	actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton							84.0904	KEEP	14	17	-1	8	2	14	17	-1	86.086171	8	2	0.757576	1	0	0	0	0	0	0	1	0	--	--		0	T			SPTBN4_uc002onx.2_Silent_p.H471H|SPTBN4_uc002onz.2_Silent_p.H471H	102	GBM-06-5858-TP	p.H471H	C	TGAAGAAACACGAAGCGATCG	NM_020971	NP_066022	41009787	Q9H254	SPTN4_HUMAN	0	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		12	1499	+	T	T			Silent	471			Spectrin 3.			
SPTBN4	57731		GRCh37	19	41060491	41060491	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2510-01	TCGA-28-2510-01																				ENST00000352632.3:c.5023G>A	p.Glu1675Lys	p.E1675K	ENST00000352632		1675	Gaa/Aaa	0																																																																																																																																																																																																																																												
SPTBN4	57731		GRCh37	19	41063199	41063199	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000352632.3:c.5560C>T	p.Arg1854Trp	p.R1854W	ENST00000352632		1854	Cgg/Tgg	0																																																																																																																																																																																																																																												
SPTBN5	51332	broad.mit.edu	GRCh37	15	42167085	42167085	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320955.6:c.4457C>T	p.Ala1486Val	p.A1486V	ENST00000320955	NM_016642.3	1486	gCc/gTc	0			1			A	A/V	uc001zos.2	protein_coding	YES	CCDS61599.1			4457/11025									ovary(1)|central_nervous_system(1)	2	c.(4351-4353)GCC>GTC			Low_complexity_(Seg):seg,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF249,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin, beta, non-erythrocytic 5				ENSP00000317790		23/68									COSM3401728	23/68	.		ENST00000320955	Transcript			actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		ENSG00000137877	g.chr15:42167085G>A	15680			MODERATE		0.565	neutral	getma.org/?cm=msa&ty=f&p=SPTN5_HUMAN&rb=1418&re=1519&var=A1486V	NA	getma.org/?cm=var&var=hg19,15,42167085,G,A&fts=all	A1486V	--	--	1																																			1	1		benign(0.004)	p.A1451V	NM_016642	NP_057726			1	SPTN5_HUMAN	SPTBN5	HGNC	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)			23	4685	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	UPI0000E59BE4	1486			Spectrin 11.		SNV	SPTBN5,missense_variant,p.Ala1486Val,ENST00000320955,NM_016642.3;	uc001zos.2	c.4352C>T	4685/11722	1	1			c.4352C>T						15	SNP	c.(4351-4353)GCC>GTC	55	55			ovary(1)|central_nervous_system(1)	2	Broad	spectrin, beta, non-erythrocytic 5			42167085		0.632	ENSG00000137877	14890	g.chr15:42167085G>A	actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin								-7.627042	KEEP	2	1	-1	36	46	2	1	-1	6.375763	36	46	0.046875	1	0	0	0	0	1	0	0	0	--	--		0	A				58	GBM-06-0644-TP	p.A1451V	G	CGGGGAGGCGGCCATGCCATG	NM_016642	NP_057726	42167085	Q9NRC6	SPTN5_HUMAN	0		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	23	4685	-	A	A		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	Missense_Mutation	1486			Spectrin 11.			
SPTBN5	51332	broad.mit.edu	GRCh37	15	42151139	42151139	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-5858-01	TCGA-06-5858-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320955.6:c.8028T>C	p.His2676=	p.H2676=	ENST00000320955	NM_016642.3	2676	caT/caC	0			1			G	H	uc001zos.2	protein_coding	YES	CCDS61599.1			8028/11025									ovary(1)|central_nervous_system(1)	2	c.(7921-7923)CAT>CAC			Low_complexity_(Seg):seg,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF249,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin, beta, non-erythrocytic 5				ENSP00000317790		48/68	2.50E-05			0.000502					rs773355575,COSM3401725	48/68	common_variant		ENST00000320955	Transcript			actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		ENSG00000137877	g.chr15:42151139A>G	15680			LOW								--	--	1																																			0,1	1			p.H2641H	NM_016642	NP_057726			0,1	SPTN5_HUMAN	SPTBN5	HGNC	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)			48	8256	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	UPI0000E59BE4	2676			Spectrin 23.		SNV	SPTBN5,synonymous_variant,p.=,ENST00000320955,NM_016642.3;	uc001zos.2	c.7923T>C	8256/11722	3	3			c.7923T>C						15	SNP	c.(7921-7923)CAT>CAC	12	12			ovary(1)|central_nervous_system(1)	2	Broad	spectrin, beta, non-erythrocytic 5			42151139		0.706	ENSG00000137877	14890	g.chr15:42151139A>G	actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin								65.564671	KEEP	11	14	-1	2	5	11	14	-1	67.660198	2	5	0.818182	1	0	0	0	0	0	0	1	0	--	--		0	G				102	GBM-06-5858-TP	p.H2641H	A	CCTCCAGGCGATGGCGGCGGG	NM_016642	NP_057726	42151139	Q9NRC6	SPTN5_HUMAN	0		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	48	8256	-	G	G		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	Silent	2676			Spectrin 23.			
SPTBN5	0	broad.mit.edu	GRCh37	15	42162053	42162053	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01	TCGA-12-3652-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320955.6:c.5839C>T	p.Arg1947Cys	p.R1947C	ENST00000320955	NM_016642.3	1947	Cgc/Tgc	0			1			A	R/C	uc001zos.2	protein_coding	YES	CCDS61599.1			5839/11025									ovary(1)|central_nervous_system(1)	2	c.(5734-5736)CGC>TGC			Low_complexity_(Seg):seg,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF249,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin, beta, non-erythrocytic 5				ENSP00000317790		32/68	8.46E-06			0.000342					rs775059503,COSM3401727	32/68	.		ENST00000320955	Transcript			actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		ENSG00000137877	g.chr15:42162053G>A	15680			MODERATE		2.085	medium	getma.org/?cm=msa&ty=f&p=SPTN5_HUMAN&rb=1943&re=2047&var=R1947C	getma.org/pdb.php?prot=SPTN5_HUMAN&from=1943&to=2047&var=R1947C	getma.org/?cm=var&var=hg19,15,42162053,G,A&fts=all	R1947C	--	--	1																																			0,1	1		probably_damaging(0.949)	p.R1912C	NM_016642	NP_057726			0,1	SPTN5_HUMAN	SPTBN5	HGNC	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)			32	6067	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	UPI0000E59BE4	1947			Spectrin 16.		SNV	SPTBN5,missense_variant,p.Arg1947Cys,ENST00000320955,NM_016642.3;MIR4310,upstream_gene_variant,,ENST00000582950,;	uc001zos.2	c.5734C>T	6067/11722	2	2			c.5734C>T						15	SNP	c.(5734-5736)CGC>TGC	33	33			ovary(1)|central_nervous_system(1)	2	Broad	spectrin, beta, non-erythrocytic 5			42162053		0.682	ENSG00000137877	14890	g.chr15:42162053G>A	actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin								29.976146	KEEP	6	8	-1	5	4	6	8	-1	29.976146	5	4	0.5	1	0	0	0	0	1	0	0	0	--	--		0	A				127	GBM-12-3652-TP	p.R1912C	G	GTGCGGAAGCGGGCCAGGAGG	NM_016642	NP_057726	42162053	Q9NRC6	SPTN5_HUMAN	0		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	32	6067	-	A	A		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	Missense_Mutation	1947			Spectrin 16.			
SPTBN5	0	broad.mit.edu	GRCh37	15	42185109	42185109	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01	TCGA-14-4157-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320955.6:c.367G>A	p.Ala123Thr	p.A123T	ENST00000320955	NM_016642.3	123	Gcc/Acc	0			1			T	A/T	uc001zos.2	protein_coding	YES	CCDS61599.1			367/11025									ovary(1)|central_nervous_system(1)	2	c.(262-264)GCC>ACC			PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF249,Gene3D:1.10.418.10,Pfam_domain:PF00307,SMART_domains:SM00033,Superfamily_domains:SSF47576	spectrin, beta, non-erythrocytic 5				ENSP00000317790		Mar-68									COSM3401731	Mar-68	.		ENST00000320955	Transcript			actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		ENSG00000137877	g.chr15:42185109C>T	15680			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=SPTN5_HUMAN&rb=57&re=159&var=A123T	getma.org/pdb.php?prot=SPTN5_HUMAN&from=57&to=159&var=A123T	getma.org/?cm=var&var=hg19,15,42185109,C,T&fts=all	A123T	--	--	1																																		uc010bcp.1_RNA	1	1		probably_damaging(0.939)	p.A88T	NM_016642	NP_057726			1	SPTN5_HUMAN	SPTBN5	HGNC	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)			3	595	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	UPI0000E59BE4	123			Actin-binding.|CH 1.		SNV	SPTBN5,missense_variant,p.Ala123Thr,ENST00000320955,NM_016642.3;RP11-23P13.7,downstream_gene_variant,,ENST00000605942,;RP11-23P13.6,non_coding_transcript_exon_variant,,ENST00000309874,;RP11-23P13.6,intron_variant,,ENST00000564432,;RP11-23P13.6,upstream_gene_variant,,ENST00000568861,;RP11-23P13.6,upstream_gene_variant,,ENST00000562920,;	uc001zos.2	c.262G>A	595/11722	2	2			c.262G>A						15	SNP	c.(262-264)GCC>ACC	45	45			ovary(1)|central_nervous_system(1)	2	Broad	spectrin, beta, non-erythrocytic 5			42185109		0.687	ENSG00000137877	14890	g.chr15:42185109C>T	actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin								54.083936	KEEP	21	8	-1	19	33	21	8	-1	55.684229	19	33	0.327869	1	0	0	0	0	1	0	0	0	--	--		0	T			uc010bcp.1_RNA	152	GBM-14-4157-TP	p.A88T	C	CTGAGGAAGGCCAGAGCTCGG	NM_016642	NP_057726	42185109	Q9NRC6	SPTN5_HUMAN	0		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	3	595	-	T	T		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	Missense_Mutation	123			Actin-binding.|CH 1.			
SPTBN5	0	broad.mit.edu	GRCh37	15	42160382	42160382	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-4068-01	TCGA-19-4068-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320955.6:c.6092G>T	p.Arg2031Leu	p.R2031L	ENST00000320955	NM_016642.3	2031	cGg/cTg	0			1			A	R/L	uc001zos.2	protein_coding	YES	CCDS61599.1			6092/11025									ovary(1)|central_nervous_system(1)	2	c.(5986-5988)CGG>CTG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF249,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin, beta, non-erythrocytic 5				ENSP00000317790		34/68									COSM3401726	34/68	.		ENST00000320955	Transcript			actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		ENSG00000137877	g.chr15:42160382C>A	15680			MODERATE		2.25	medium	getma.org/?cm=msa&ty=f&p=SPTN5_HUMAN&rb=1943&re=2047&var=R2031L	getma.org/pdb.php?prot=SPTN5_HUMAN&from=1943&to=2047&var=R2031L	getma.org/?cm=var&var=hg19,15,42160382,C,A&fts=all	R2031L	--	--	1																																		hsa-mir-4310|MI0015840_5'Flank	1	1		probably_damaging(0.915)	p.R1996L	NM_016642	NP_057726			1	SPTN5_HUMAN	SPTBN5	HGNC	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)			34	6320	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	UPI0000E59BE4	2031			Spectrin 16.		SNV	SPTBN5,missense_variant,p.Arg2031Leu,ENST00000320955,NM_016642.3;MIR4310,upstream_gene_variant,,ENST00000582950,;	uc001zos.2	c.5987G>T	6320/11722	1	1			c.5987G>T						15	SNP	c.(5986-5988)CGG>CTG	64	64			ovary(1)|central_nervous_system(1)	2	Broad	spectrin, beta, non-erythrocytic 5			42160382		0.642	ENSG00000137877	14890	g.chr15:42160382C>A	actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin								4.840573	KEEP	2	0	-1	5	8	2	0	-1	6.561012	5	8	0.142857	1	0	0	0	0	1	0	0	0	--	--		0	A			hsa-mir-4310|MI0015840_5'Flank	168	GBM-19-4068-TP	p.R1996L	C	CACCTGGTCCCGCTGGTCCTG	NM_016642	NP_057726	42160382	Q9NRC6	SPTN5_HUMAN	0		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	34	6320	-	A	A		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	Missense_Mutation	2031			Spectrin 16.			
SPTBN5	0	broad.mit.edu	GRCh37	15	42168354	42168354	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-2527-01	TCGA-27-2527-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320955.6:c.4080C>T	p.Ser1360=	p.S1360=	ENST00000320955	NM_016642.3	1360	agC/agT	0			1			A	S	uc001zos.2	protein_coding	YES	CCDS61599.1			4080/11025									ovary(1)|central_nervous_system(1)	2	c.(3973-3975)AGC>AGT			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF249,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin, beta, non-erythrocytic 5				ENSP00000317790		21/68	8.25E-06					1.51E-05			rs764444871,COSM3401729	21/68	.		ENST00000320955	Transcript			actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		ENSG00000137877	g.chr15:42168354G>A	15680			LOW								--	--	1																																			0,1	1			p.S1325S	NM_016642	NP_057726			0,1	SPTN5_HUMAN	SPTBN5	HGNC	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)			21	4308	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	UPI0000E59BE4	1360			Spectrin 10.		SNV	SPTBN5,synonymous_variant,p.=,ENST00000320955,NM_016642.3;	uc001zos.2	c.3975C>T	4308/11722	2	2			c.3975C>T						15	SNP	c.(3973-3975)AGC>AGT	22	22			ovary(1)|central_nervous_system(1)	2	Broad	spectrin, beta, non-erythrocytic 5			42168354		0.622	ENSG00000137877	14890	g.chr15:42168354G>A	actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin								19.40915	KEEP	9	6	-1	35	39	9	6	-1	27.462754	35	39	0.15493	1	0	0	0	0	0	0	1	0	--	--		0	A				204	GBM-27-2527-TP	p.S1325S	G	CGAGTAGCTCGCTCTCAGCTG	NM_016642	NP_057726	42168354	Q9NRC6	SPTN5_HUMAN	0		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	21	4308	-	A	A		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	Silent	1360			Spectrin 10.			
SPTBN5	51332		GRCh37	15	42148626	42148626	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000320955.6:c.8979del	p.Leu2994CysfsTer12	p.L2994Cfs*12	ENST00000320955	NM_016642.3	2993	ctT/ct	0																																																																																																																																																																																																																																												
SPTBN5	51332		GRCh37	15	42164092	42164092	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000320955.6:c.5189del	p.Leu1730ArgfsTer7	p.L1730Rfs*7	ENST00000320955	NM_016642.3	1730	cTg/cg	0																																																																																																																																																																																																																																												
SPTLC3	55304	broad.mit.edu	GRCh37	20	13029756	13029756	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0648-01	TCGA-06-0648-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399002.2:c.281C>A	p.Ala94Asp	p.A94D	ENST00000399002	NM_018327.2	94	gCt/gAt	0			1			A	A/D	uc002wod.1	protein_coding	YES	CCDS13115.2			281/1659										0	c.(280-282)GCT>GAT			hmmpanther:PTHR13693:SF56,hmmpanther:PTHR13693	serine palmitoyltransferase, long chain base	Pyridoxal Phosphate(DB00114)			ENSP00000381968		12-Feb									COSM3404930,COSM3404931	12-Feb	.		ENST00000399002	Transcript			sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	ENSG00000172296	g.chr20:13029756C>A	16253			MODERATE		2.06	medium	getma.org/?cm=msa&ty=f&p=SPTC3_HUMAN&rb=1&re=159&var=A94D	NA	getma.org/?cm=var&var=hg19,20,13029756,C,A&fts=all	A94D	--	--	1																																		SPTLC3_uc002woc.2_Missense_Mutation_p.A94D	1,1	1		probably_damaging(0.999)	p.A94D	NM_018327	NP_060797		deleterious(0.04)	1,1	SPTC3_HUMAN	SPTLC3	HGNC	Q9NUV7	SPTC3_HUMAN			Q8N2H1_HUMAN,B1AKS2_HUMAN		2	570	+			UPI0000D6BFB5	94					SNV	SPTLC3,missense_variant,p.Ala94Asp,ENST00000399002,NM_018327.2;SPTLC3,missense_variant,p.Ala94Asp,ENST00000378194,;SPTLC3,missense_variant,p.Ala67Asp,ENST00000450297,;SPTLC3,missense_variant,p.Ala94Asp,ENST00000434210,;SPTLC3,non_coding_transcript_exon_variant,,ENST00000476791,;	uc002wod.1	c.281C>A	555/3830	1	1			c.281C>A						20	SNP	c.(280-282)GCT>GAT	49	49				0	Broad	serine palmitoyltransferase, long chain base		Pyridoxal Phosphate(DB00114)	13029756		0.423	ENSG00000172296	14893	g.chr20:13029756C>A	sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups							-29.340534	KEEP	3	2	0.4	76	74	3	2	0.4	6.945425	76	74	0.027211	1	0	0	0	0	1	0	0	0	--	--		0	A			SPTLC3_uc002woc.2_Missense_Mutation_p.A94D	61	GBM-06-0648-TP	p.A94D	C	TGCAACGCAGCTGTGGAAAGA	NM_018327	NP_060797	13029756	Q9NUV7	SPTC3_HUMAN	0			2	570	+	A	A			Missense_Mutation	94						
SPTLC3	0	broad.mit.edu	GRCh37	20	13052931	13052931	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-26-1439-01	TCGA-26-1439-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399002.2:c.331G>C	p.Glu111Gln	p.E111Q	ENST00000399002	NM_018327.2	111	Gaa/Caa	0			1			C	E/Q	uc002wod.1	protein_coding	YES	CCDS13115.2			331/1659										0	c.(331-333)GAA>CAA			hmmpanther:PTHR13693:SF56,hmmpanther:PTHR13693	serine palmitoyltransferase, long chain base	Pyridoxal Phosphate(DB00114)			ENSP00000381968		12-Mar									COSM2156861,COSM2156862	12-Mar	.		ENST00000399002	Transcript			sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	ENSG00000172296	g.chr20:13052931G>C	16253			MODERATE		3.295	medium	getma.org/?cm=msa&ty=f&p=SPTC3_HUMAN&rb=1&re=159&var=E111Q	NA	getma.org/?cm=var&var=hg19,20,13052931,G,C&fts=all	E111Q	--	--	1																																			1,1	1		benign(0.082)	p.E111Q	NM_018327	NP_060797		deleterious(0.02)	1,1	SPTC3_HUMAN	SPTLC3	HGNC	Q9NUV7	SPTC3_HUMAN			Q8N2H1_HUMAN,B1AKS2_HUMAN		3	620	+			UPI0000D6BFB5	111					SNV	SPTLC3,missense_variant,p.Glu111Gln,ENST00000399002,NM_018327.2;SPTLC3,missense_variant,p.Glu111Gln,ENST00000378194,;SPTLC3,missense_variant,p.Glu84Gln,ENST00000450297,;SPTLC3,missense_variant,p.Glu111Gln,ENST00000434210,;RP4-718P11.1,downstream_gene_variant,,ENST00000603234,;	uc002wod.1	c.331G>C	605/3830	3	3			c.331G>C						20	SNP	c.(331-333)GAA>CAA	49	49				0	Broad	serine palmitoyltransferase, long chain base		Pyridoxal Phosphate(DB00114)	13052931		0.428	ENSG00000172296	14893	g.chr20:13052931G>C	sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups							652.430533	KEEP	101	100	-1	148	161	101	100	-1	656.713812	148	161	0.396963	1	0	0	0	0	1	0	0	0	--	--		0	C				179	GBM-26-1439-TP	p.E111Q	G	TCAAGACTTTGAAAATTTTTA	NM_018327	NP_060797	13052931	Q9NUV7	SPTC3_HUMAN	0			3	620	+	C	C			Missense_Mutation	111						
SPTLC3	0	broad.mit.edu	GRCh37	20	13052999	13052999	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-27-2521-01	TCGA-27-2521-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399002.2:c.399C>G	p.Ala133=	p.A133=	ENST00000399002	NM_018327.2	133	gcC/gcG	0			1			G	A	uc002wod.1	protein_coding	YES	CCDS13115.2			399/1659										0	c.(397-399)GCC>GCG			hmmpanther:PTHR13693:SF56,hmmpanther:PTHR13693,Superfamily_domains:SSF53383	serine palmitoyltransferase, long chain base	Pyridoxal Phosphate(DB00114)			ENSP00000381968		12-Mar									COSM3404932,COSM3404933	12-Mar	.		ENST00000399002	Transcript			sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	ENSG00000172296	g.chr20:13052999C>G	16253			LOW								--	--	1																																			1,1	1			p.A133A	NM_018327	NP_060797			1,1	SPTC3_HUMAN	SPTLC3	HGNC	Q9NUV7	SPTC3_HUMAN			Q8N2H1_HUMAN,B1AKS2_HUMAN		3	688	+			UPI0000D6BFB5	133					SNV	SPTLC3,synonymous_variant,p.=,ENST00000399002,NM_018327.2;SPTLC3,synonymous_variant,p.=,ENST00000378194,;SPTLC3,synonymous_variant,p.=,ENST00000450297,;SPTLC3,synonymous_variant,p.=,ENST00000434210,;RP4-718P11.1,downstream_gene_variant,,ENST00000603234,;	uc002wod.1	c.399C>G	673/3830	3	3			c.399C>G						20	SNP	c.(397-399)GCC>GCG	11	11				0	Broad	serine palmitoyltransferase, long chain base		Pyridoxal Phosphate(DB00114)	13052999		0.438	ENSG00000172296	14893	g.chr20:13052999C>G	sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups							193.48191	KEEP	63	87	-1	140	158	63	87	-1	213.75084	140	158	0.240122	1	0	0	0	0	0	0	1	0	--	--		0	G				200	GBM-27-2521-TP	p.A133A	C	TCTGCAGTGCCCCAGGGCCTC	NM_018327	NP_060797	13052999	Q9NUV7	SPTC3_HUMAN	0			3	688	+	G	G			Silent	133						
SPTLC3	55304		GRCh37	20	12989978	12989978	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000399002.2:c.63C>A	p.Ser21Arg	p.S21R	ENST00000399002	NM_018327.2	21	agC/agA	0																																																																																																																																																																																																																																												
SQSTM1	0	broad.mit.edu	GRCh37	5	179260112	179260114	+	inframe_deletion	In_Frame_Del	DEL	GAG	GAG	-			TCGA-19-2625-01	TCGA-19-2625-01	GAG	GAG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389805.4:c.838_840delGAG	p.Glu280del	p.E280del	ENST00000389805	NM_003900.4	279	GAG/-	0	-:0.0014		1			-	E/-	uc003mkw.3	protein_coding	YES	CCDS34317.1			835-837/1323							SQSTM1/ALK(2)		haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	c.(835-837)GAGdel			Low_complexity_(Seg):seg,hmmpanther:PTHR15090	sequestosome 1 isoform 1			-:0.001	ENSP00000374455		8-Jun	8.24E-05	0.000674	8.64E-05	0.000116		1.50E-05			rs752009611	8-Jun	common_variant	Paget_Disease_of_Bone	ENST00000389805	Transcript	1		anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding	ENSG00000161011	g.chr5:179260112_179260114delGAG	11280	3		MODERATE								--	--	1																																		SQSTM1_uc011dgr.1_In_Frame_Del_p.E196del|SQSTM1_uc011dgs.1_In_Frame_Del_p.E196del|SQSTM1_uc003mkv.3_In_Frame_Del_p.E280del|SQSTM1_uc003mkx.2_In_Frame_Del_p.E196del		1			p.E280del	NM_003900	NP_003891				SQSTM_HUMAN	SQSTM1	HGNC	Q13501	SQSTM_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		E9PFW8_HUMAN,C9JRJ8_HUMAN		6	930_932	+	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	UPI0000071099	280			Interaction with NTRK1 (By similarity).|Ser-rich.		deletion	SQSTM1,inframe_deletion,p.Glu280del,ENST00000389805,NM_003900.4;SQSTM1,inframe_deletion,p.Glu196del,ENST00000376929,NM_001142298.1,NM_001142299.1;SQSTM1,inframe_deletion,p.Glu196del,ENST00000360718,;SQSTM1,inframe_deletion,p.Glu196del,ENST00000402874,;SQSTM1,inframe_deletion,p.Glu280del,ENST00000510187,;C5orf45,downstream_gene_variant,,ENST00000518219,;C5orf45,downstream_gene_variant,,ENST00000403396,;C5orf45,downstream_gene_variant,,ENST00000518235,;C5orf45,downstream_gene_variant,,ENST00000292586,NM_016175.3;C5orf45,downstream_gene_variant,,ENST00000523084,;C5orf45,downstream_gene_variant,,ENST00000376931,NM_001017987.2;C5orf45,downstream_gene_variant,,ENST00000520698,;C5orf45,downstream_gene_variant,,ENST00000521333,;C5orf45,downstream_gene_variant,,ENST00000523267,;SQSTM1,non_coding_transcript_exon_variant,,ENST00000466342,;C5orf45,downstream_gene_variant,,ENST00000522663,;C5orf45,downstream_gene_variant,,ENST00000521299,;C5orf45,downstream_gene_variant,,ENST00000518950,;	uc003mkw.3	c.835_837delGAG	1013-1015/2986	5	5			c.835_837delGAG						5	DEL	c.(835-837)GAGdel	33	33	SQSTM1/ALK(2)		haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	Broad	sequestosome 1 isoform 1			179260114	Paget_Disease_of_Bone	0.596	ENSG00000161011	14898	g.chr5:179260112_179260114delGAG	anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding																				0.18	1	1	0	1	0	0	0	0	0	--	--		0	-			SQSTM1_uc011dgr.1_In_Frame_Del_p.E196del|SQSTM1_uc011dgs.1_In_Frame_Del_p.E196del|SQSTM1_uc003mkv.3_In_Frame_Del_p.E280del|SQSTM1_uc003mkx.2_In_Frame_Del_p.E196del	165	GBM-19-2625-TP	p.E280del	GAG	TTCCAGCACAGAGGAGAAGAGCA	NM_003900	NP_003891	179260112	Q13501	SQSTM_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	930_932	+	-	-	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	In_Frame_Del	280			Interaction with NTRK1 (By similarity).|Ser-rich.			
SRBD1	0	broad.mit.edu	GRCh37	2	45773870	45773870	+	splice_donor_variant	Splice_Site	SNP	C	C	A			TCGA-41-2571-01	TCGA-41-2571-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263736.4:c.1874+1G>T		p.X625_splice	ENST00000263736	NM_018079.4			0			1			A		uc002rus.2	protein_coding	YES	CCDS1823.1			1874/2988									central_nervous_system(1)	1	c.e14+1				S1 RNA binding domain 1				ENSP00000263736											COSM3407872		.		ENST00000263736	Transcript			nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	ENSG00000068784	g.chr2:45773870C>A	25521			HIGH	14/20							--	--	1																																		SRBD1_uc010yoc.1_Splice_Site_p.C144_splice	1	1			p.C625_splice	NM_018079	NP_060549			1	SRBD1_HUMAN	SRBD1	HGNC	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		B7Z6X7_HUMAN		14	1950	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	UPI000004CC06						SNV	SRBD1,splice_donor_variant,,ENST00000263736,NM_018079.4;SRBD1,splice_donor_variant,,ENST00000535761,;SRBD1,splice_donor_variant,,ENST00000475073,;SRBD1,downstream_gene_variant,,ENST00000493649,;	uc002rus.2	c.1874_splice	-/3681	5	1			c.1874_splice						2	SNP	c.e14+1	61	61			central_nervous_system(1)	1	Broad	S1 RNA binding domain 1			45773870		0.378	ENSG00000068784	14901	g.chr2:45773870C>A	nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding							131.480886	KEEP	15	25	0.625	35	28	15	25	0.625	132.355377	35	28	0.4	1	0	0	0	0	0	0	0	1	--	--		0	A			SRBD1_uc010yoc.1_Splice_Site_p.C144_splice	250	GBM-41-2571-TP	p.C625_splice	C	AATAGCCTTACCAGTAAACAA	NM_018079	NP_060549	45773870	Q8N5C6	SRBD1_HUMAN	0	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		14	1950	-	A	A		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Splice_Site							
SRBD1	0	broad.mit.edu	GRCh37	2	45801787	45801787	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01	TCGA-76-4935-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263736.4:c.1148C>T	p.Thr383Met	p.T383M	ENST00000263736	NM_018079.4	383	aCg/aTg	0			1			A	T/M	uc002rus.2	protein_coding	YES	CCDS1823.1			1148/2988									central_nervous_system(1)	1	c.(1147-1149)ACG>ATG			Superfamily_domains:0054854,Gene3D:3bzcA02,Pfam_domain:PF09371,hmmpanther:PTHR10724,hmmpanther:PTHR10724:SF1	S1 RNA binding domain 1				ENSP00000263736		21-Aug									COSM3407873	21-Aug	.		ENST00000263736	Transcript			nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	ENSG00000068784	g.chr2:45801787G>A	25521			MODERATE		1.645	low	getma.org/?cm=msa&ty=f&p=SRBD1_HUMAN&rb=218&re=413&var=T383M	getma.org/pdb.php?prot=SRBD1_HUMAN&from=218&to=413&var=T383M	getma.org/?cm=var&var=hg19,2,45801787,G,A&fts=all	T383M	--	--	1																																			1	1		possibly_damaging(0.742)	p.T383M	NM_018079	NP_060549		deleterious(0)	1	SRBD1_HUMAN	SRBD1	HGNC	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		B7Z6X7_HUMAN		8	1224	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	UPI000004CC06	383					SNV	SRBD1,missense_variant,p.Thr383Met,ENST00000263736,NM_018079.4;	uc002rus.2	c.1148C>T	1211/3681	2	2			c.1148C>T						2	SNP	c.(1147-1149)ACG>ATG	28	28			central_nervous_system(1)	1	Broad	S1 RNA binding domain 1			45801787		0.393	ENSG00000068784	14901	g.chr2:45801787G>A	nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding							178.732469	KEEP	35	35	-1	67	49	35	35	-1	181.295221	67	49	0.36747	1	0	0	0	0	1	0	0	0	--	--		0	A				273	GBM-76-4935-TP	p.T383M	G	GAAGTCAAGCGTGTCTTTGTC	NM_018079	NP_060549	45801787	Q8N5C6	SRBD1_HUMAN	0	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		8	1224	-	A	A		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Missense_Mutation	383						
SRC	0	broad.mit.edu	GRCh37	20	36030005	36030005	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01	TCGA-19-2631-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358208.4:c.1040G>A	p.Gly347Glu	p.G347E	ENST00000358208		347	gGg/gAg	0			1			A	G/E	uc002xgx.2	protein_coding		CCDS13294.1			1040/1611									large_intestine(10)|lung(1)|central_nervous_system(1)|endometrium(1)	13	c.(1039-1041)GGG>GAG			PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF53,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109	proto-oncogene tyrosine-protein kinase SRC	Dasatinib(DB01254)			ENSP00000350941		12-Sep									COSM2156386	12-Sep	.		ENST00000358208	Transcript			axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity	ENSG00000197122	g.chr20:36030005G>A	11283			MODERATE		3.445	medium	getma.org/?cm=msa&ty=f&p=SRC_HUMAN&rb=270&re=519&var=G347E	getma.org/pdb.php?prot=SRC_HUMAN&from=270&to=519&var=G347E	getma.org/?cm=var&var=hg19,20,36030005,G,A&fts=all	G347E	--	--	1																																		SRC_uc002xgy.2_Missense_Mutation_p.G347E	1			probably_damaging(1)	p.G347E	NM_005417	NP_005408		deleterious(0.01)	1	SRC_HUMAN	SRC	HGNC	P12931	SRC_HUMAN			Q9H7V3_HUMAN,Q71UK5_HUMAN		11	1489	+		Myeloproliferative disorder(115;0.00878)	UPI0000000CB3	347			Protein kinase.		SNV	SRC,missense_variant,p.Gly347Glu,ENST00000373578,NM_198291.2;SRC,missense_variant,p.Gly347Glu,ENST00000373567,;SRC,missense_variant,p.Gly353Glu,ENST00000373558,;SRC,missense_variant,p.Gly347Glu,ENST00000445403,NM_005417.4;SRC,missense_variant,p.Gly353Glu,ENST00000360723,;SRC,missense_variant,p.Gly347Glu,ENST00000358208,;SRC,splice_region_variant,,ENST00000477066,;SRC,splice_region_variant,,ENST00000477475,;SRC,upstream_gene_variant,,ENST00000493775,;SRC,downstream_gene_variant,,ENST00000489153,;SRC,splice_region_variant,,ENST00000467556,;	uc002xgx.2	c.1040G>A	1142/3748	1	1			c.1040G>A						20	SNP	c.(1039-1041)GGG>GAG	64	64			large_intestine(10)|lung(1)|central_nervous_system(1)|endometrium(1)	13	Broad	proto-oncogene tyrosine-protein kinase SRC		Dasatinib(DB01254)	36030005		0.617	ENSG00000197122	14902	g.chr20:36030005G>A	axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			463			463	220.828377	KEEP	45	51	-1	134	125	45	51	-1	233.127103	134	125	0.282759	1	0	0	0	0	1	0	0	0	--	--		0	A			SRC_uc002xgy.2_Missense_Mutation_p.G347E	167	GBM-19-2631-TP	p.G347E	G	CTCTGCCCAGGGAGTTTGCTG	NM_005417	NP_005408	36030005	P12931	SRC_HUMAN	0			11	1489	+	A	A		Myeloproliferative disorder(115;0.00878)	Missense_Mutation	347			Protein kinase.			
SRC	0	broad.mit.edu	GRCh37	20	36026230	36026230	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-41-3393-01	TCGA-41-3393-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358208.4:c.832C>G	p.Gln278Glu	p.Q278E	ENST00000358208		278	Cag/Gag	0			1			G	Q/E	uc002xgx.2	protein_coding		CCDS13294.1			832/1611									large_intestine(10)|lung(1)|central_nervous_system(1)|endometrium(1)	13	c.(832-834)CAG>GAG			PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF53,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF55550,Superfamily_domains:SSF56112	proto-oncogene tyrosine-protein kinase SRC	Dasatinib(DB01254)			ENSP00000350941		12-Jul									COSM3405054	12-Jul	.		ENST00000358208	Transcript			axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity	ENSG00000197122	g.chr20:36026230C>G	11283			MODERATE		-0.36	neutral	getma.org/?cm=msa&ty=f&p=SRC_HUMAN&rb=270&re=519&var=Q278E	getma.org/pdb.php?prot=SRC_HUMAN&from=270&to=519&var=Q278E	getma.org/?cm=var&var=hg19,20,36026230,C,G&fts=all	Q278E	--	--	1																																		SRC_uc002xgy.2_Missense_Mutation_p.Q278E	1			probably_damaging(0.967)	p.Q278E	NM_005417	NP_005408		tolerated(0.22)	1	SRC_HUMAN	SRC	HGNC	P12931	SRC_HUMAN			Q9H7V3_HUMAN,Q71UK5_HUMAN		9	1281	+		Myeloproliferative disorder(115;0.00878)	UPI0000000CB3	278			Protein kinase.|ATP.		SNV	SRC,missense_variant,p.Gln278Glu,ENST00000373578,NM_198291.2;SRC,missense_variant,p.Gln278Glu,ENST00000373567,;SRC,missense_variant,p.Gln284Glu,ENST00000373558,;SRC,missense_variant,p.Gln278Glu,ENST00000445403,NM_005417.4;SRC,missense_variant,p.Gln284Glu,ENST00000360723,;SRC,missense_variant,p.Gln278Glu,ENST00000358208,;SRC,non_coding_transcript_exon_variant,,ENST00000477066,;SRC,upstream_gene_variant,,ENST00000477475,;SRC,upstream_gene_variant,,ENST00000493775,;SRC,downstream_gene_variant,,ENST00000489153,;SRC,downstream_gene_variant,,ENST00000472968,;SRC,upstream_gene_variant,,ENST00000467556,;	uc002xgx.2	c.832C>G	934/3748	3	3			c.832C>G						20	SNP	c.(832-834)CAG>GAG	62	62			large_intestine(10)|lung(1)|central_nervous_system(1)|endometrium(1)	13	Broad	proto-oncogene tyrosine-protein kinase SRC		Dasatinib(DB01254)	36026230		0.697	ENSG00000197122	14902	g.chr20:36026230C>G	axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			463			463	0.417422	KEEP	4	1	-1	33	42	4	1	-1	13.130327	33	42	0.073529	1	0	0	0	0	1	0	0	0	--	--		0	G			SRC_uc002xgy.2_Missense_Mutation_p.Q278E	255	GBM-41-3393-TP	p.Q278E	C	CAAGCTGGGCCAGGGCTGCTT	NM_005417	NP_005408	36026230	P12931	SRC_HUMAN	0			9	1281	+	G	G		Myeloproliferative disorder(115;0.00878)	Missense_Mutation	278			Protein kinase.|ATP.			
SRCAP	10847	broad.mit.edu	GRCh37	16	30721206	30721206	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5859-01	TCGA-06-5859-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262518.4:c.891G>A	p.Glu297=	p.E297=	ENST00000262518	NM_006662.2	297	gaG/gaA	0			1			A	E	uc002dze.1	protein_coding	YES	CCDS10689.2			891/9693									ovary(3)|skin(1)	4	c.(889-891)GAG>GAA			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF581,Low_complexity_(Seg):seg	Snf2-related CBP activator protein				ENSP00000262518		Aug-34	1.65E-05		0.000173						rs760370639,COSM2153377	Aug-34	.		ENST00000262518	Transcript	1		interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	ENSG00000080603	g.chr16:30721206G>A	16974			LOW								--	--	1																																		SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.E154E|SRCAP_uc010bzz.1_5'UTR|SNORA30_uc002dzh.1_5'Flank	0,1	1			p.E297E	NM_006662	NP_006653			0,1	SRCAP_HUMAN	SRCAP	HGNC	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		G1UI29_HUMAN,C9J4U4_HUMAN		8	1276	+			UPI000059D368	297			Glu-rich.		SNV	SRCAP,synonymous_variant,p.=,ENST00000262518,NM_006662.2;SRCAP,synonymous_variant,p.=,ENST00000395059,;SRCAP,synonymous_variant,p.=,ENST00000344771,;SNORA30,upstream_gene_variant,,ENST00000384028,NR_002966.1;SRCAP,synonymous_variant,p.=,ENST00000380361,;SRCAP,upstream_gene_variant,,ENST00000483083,;	uc002dze.1	c.891G>A	1276/10474	2	2			c.891G>A						16	SNP	c.(889-891)GAG>GAA	24	24			ovary(3)|skin(1)	4	Broad	Snf2-related CBP activator protein			30721206		0.522	ENSG00000080603	14903	g.chr16:30721206G>A	interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity							74.146989	KEEP	12	11	-1	15	10	12	11	-1	74.188647	15	10	0.468085	1	0	0	0	0	0	0	1	0	--	--		0	A			SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.E154E|SRCAP_uc010bzz.1_5'UTR|SNORA30_uc002dzh.1_5'Flank	103	GBM-06-5859-TP	p.E297E	G	ATGAGGAAGAGGATGATGAGG	NM_006662	NP_006653	30721206	Q6ZRS2	SRCAP_HUMAN	0	Colorectal(24;0.198)		8	1276	+	A	A			Silent	297			Glu-rich.			
SRCAP	0	broad.mit.edu	GRCh37	16	30748842	30748842	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-12-0692-01	TCGA-12-0692-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262518.4:c.7481G>C	p.Cys2494Ser	p.C2494S	ENST00000262518	NM_006662.2	2494	tGt/tCt	0		C:0	1	C:0		C	C/S	uc002dze.1	protein_coding	YES	CCDS10689.2			7481/9693									ovary(3)|skin(1)	4	c.(7480-7482)TGT>TCT			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF581,Low_complexity_(Seg):seg	Snf2-related CBP activator protein		C:0		ENSP00000262518	C:0.001	34/34									rs200066296,COSM3402275	34/34	.		ENST00000262518	Transcript	1	C:0.0002	interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	ENSG00000080603	g.chr16:30748842G>C	16974			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=SRCAP_HUMAN&rb=2331&re=3229&var=C2494S	NA	getma.org/?cm=var&var=hg19,16,30748842,G,C&fts=all	C2494S	--	--	1																																		SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.C2289S	0,1	1		unknown(0)	p.C2494S	NM_006662	NP_006653	C:0		0,1	SRCAP_HUMAN	SRCAP	HGNC	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		G1UI29_HUMAN,C9J4U4_HUMAN		34	7866	+			UPI000059D368	2494			Pro-rich.		SNV	SRCAP,missense_variant,p.Cys2494Ser,ENST00000262518,NM_006662.2;SRCAP,missense_variant,p.Cys2432Ser,ENST00000395059,;SRCAP,missense_variant,p.Cys2336Ser,ENST00000344771,;RP11-2C24.4,upstream_gene_variant,,ENST00000483578,;SRCAP,missense_variant,p.Cys2317Ser,ENST00000380361,;SRCAP,downstream_gene_variant,,ENST00000474008,;	uc002dze.1	c.7481G>C	7866/10474	3	3			c.7481G>C						16	SNP	c.(7480-7482)TGT>TCT	11	11			ovary(3)|skin(1)	4	Broad	Snf2-related CBP activator protein			30748842		0.149	ENSG00000080603	14903	g.chr16:30748842G>C	interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity							104.90611	KEEP	16	12	-1	15	8	16	12	-1	105.062737	15	8	0.56	1	0	0	0	0	1	0	0	0	--	--		0	C			SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.C2289S	122	GBM-12-0692-TP	p.C2494S	G	attcctccttgttcttctcct	NM_006662	NP_006653	30748842	Q6ZRS2	SRCAP_HUMAN	0	Colorectal(24;0.198)		34	7866	+	C	C			Missense_Mutation	2494			Pro-rich.			
SRCAP	0	broad.mit.edu	GRCh37	16	30748845	30748845	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-12-0692-01	TCGA-12-0692-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262518.4:c.7484C>G	p.Ser2495Cys	p.S2495C	ENST00000262518	NM_006662.2	2495	tCt/tGt	0		G:0	1	G:0		G	S/C	uc002dze.1	protein_coding	YES	CCDS10689.2			7484/9693									ovary(3)|skin(1)	4	c.(7483-7485)TCT>TGT			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF581,Low_complexity_(Seg):seg	Snf2-related CBP activator protein		G:0		ENSP00000262518	G:0.001	34/34	0.000156				0.00108	0.000204			rs201185965,COSM3402276	34/34	common_variant		ENST00000262518	Transcript	1	G:0.0002	interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	ENSG00000080603	g.chr16:30748845C>G	16974			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=SRCAP_HUMAN&rb=2331&re=3229&var=S2495C	NA	getma.org/?cm=var&var=hg19,16,30748845,C,G&fts=all	S2495C	--	--	1																																		SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.S2290C	0,1	1		unknown(0)	p.S2495C	NM_006662	NP_006653	G:0		0,1	SRCAP_HUMAN	SRCAP	HGNC	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		G1UI29_HUMAN,C9J4U4_HUMAN		34	7869	+			UPI000059D368	2495			Pro-rich.		SNV	SRCAP,missense_variant,p.Ser2495Cys,ENST00000262518,NM_006662.2;SRCAP,missense_variant,p.Ser2433Cys,ENST00000395059,;SRCAP,missense_variant,p.Ser2337Cys,ENST00000344771,;RP11-2C24.4,upstream_gene_variant,,ENST00000483578,;SRCAP,missense_variant,p.Ser2318Cys,ENST00000380361,;SRCAP,downstream_gene_variant,,ENST00000474008,;	uc002dze.1	c.7484C>G	7869/10474	3	3			c.7484C>G						16	SNP	c.(7483-7485)TCT>TGT	60	60			ovary(3)|skin(1)	4	Broad	Snf2-related CBP activator protein			30748845		0.154	ENSG00000080603	14903	g.chr16:30748845C>G	interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity							108.406507	KEEP	15	13	-1	16	9	15	13	-1	108.473611	16	9	0.538462	1	0	0	0	0	1	0	0	0	--	--		0	G			SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.S2290C	122	GBM-12-0692-TP	p.S2495C	C	cctccttgttcttctcctgcc	NM_006662	NP_006653	30748845	Q6ZRS2	SRCAP_HUMAN	0	Colorectal(24;0.198)		34	7869	+	G	G			Missense_Mutation	2495			Pro-rich.			
SRCAP	0	broad.mit.edu	GRCh37	16	30734359	30734359	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-28-2509-01	TCGA-28-2509-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262518.4:c.3968C>G	p.Pro1323Arg	p.P1323R	ENST00000262518	NM_006662.2	1323	cCt/cGt	0			1			G	P/R	uc002dze.1	protein_coding	YES	CCDS10689.2			3968/9693									ovary(3)|skin(1)	4	c.(3967-3969)CCT>CGT			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF581,Low_complexity_(Seg):seg	Snf2-related CBP activator protein				ENSP00000262518		24/34									COSM3402274	24/34	.		ENST00000262518	Transcript	1		interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	ENSG00000080603	g.chr16:30734359C>G	16974			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=SRCAP_HUMAN&rb=1011&re=1399&var=P1323R	NA	getma.org/?cm=var&var=hg19,16,30734359,C,G&fts=all	P1323R	--	--	1																																		SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.P1118R|SRCAP_uc010bzz.1_Missense_Mutation_p.P893R	1	1		possibly_damaging(0.804)	p.P1323R	NM_006662	NP_006653			1	SRCAP_HUMAN	SRCAP	HGNC	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		G1UI29_HUMAN,C9J4U4_HUMAN		24	4353	+			UPI000059D368	1323			Pro-rich.		SNV	SRCAP,missense_variant,p.Pro1323Arg,ENST00000262518,NM_006662.2;SRCAP,missense_variant,p.Pro1261Arg,ENST00000395059,;SRCAP,missense_variant,p.Pro1165Arg,ENST00000344771,;SRCAP,missense_variant,p.Pro1146Arg,ENST00000380361,;SRCAP,non_coding_transcript_exon_variant,,ENST00000483083,;	uc002dze.1	c.3968C>G	4353/10474	4	4			c.3968C>G						16	SNP	c.(3967-3969)CCT>CGT	28	28			ovary(3)|skin(1)	4	Broad	Snf2-related CBP activator protein			30734359		0.587	ENSG00000080603	14903	g.chr16:30734359C>G	interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity							-31.806056	KEEP	2	4	-1	92	104	2	4	-1	11.246356	92	104	0.033149	1	0	0	0	0	1	0	0	0	--	--		0	G			SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.P1118R|SRCAP_uc010bzz.1_Missense_Mutation_p.P893R	211	GBM-28-2509-TP	p.P1323R	C	GGACTGACTCCTGTTCCTCCA	NM_006662	NP_006653	30734359	Q6ZRS2	SRCAP_HUMAN	0	Colorectal(24;0.198)		24	4353	+	G	G			Missense_Mutation	1323			Pro-rich.			
SRCAP	0	broad.mit.edu	GRCh37	16	30749342	30749342	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-28-2509-01	TCGA-28-2509-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262518.4:c.7981delG	p.Asp2661MetfsTer17	p.D2661Mfs*17	ENST00000262518	NM_006662.2	2661	Gat/at	0			1			-	D/X	uc002dze.1	protein_coding	YES	CCDS10689.2			7981/9693									ovary(3)|skin(1)	4	c.(7981-7983)GATfs			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF581	Snf2-related CBP activator protein				ENSP00000262518		34/34										34/34	.		ENST00000262518	Transcript	1		interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	ENSG00000080603	g.chr16:30749342delG	16974			HIGH								--	--	1																																		SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Frame_Shift_Del_p.D2456fs		1			p.D2661fs	NM_006662	NP_006653				SRCAP_HUMAN	SRCAP	HGNC	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		G1UI29_HUMAN,C9J4U4_HUMAN		34	8366	+			UPI000059D368	2661			Pro-rich.		deletion	SRCAP,frameshift_variant,p.Asp2661MetfsTer17,ENST00000262518,NM_006662.2;SRCAP,frameshift_variant,p.Asp2599MetfsTer17,ENST00000395059,;SRCAP,frameshift_variant,p.Asp2503MetfsTer17,ENST00000344771,;RP11-2C24.4,upstream_gene_variant,,ENST00000483578,;SRCAP,frameshift_variant,p.Asp2484MetfsTer17,ENST00000380361,;SRCAP,downstream_gene_variant,,ENST00000474008,;	uc002dze.1	c.7981delG	8366/10474	5	5			c.7981delG						16	DEL	c.(7981-7983)GATfs	1	1			ovary(3)|skin(1)	4	Broad	Snf2-related CBP activator protein			30749342		0.602	ENSG00000080603	14903	g.chr16:30749342delG	interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity																				0.55	1	1	0	1	0	0	0	0	0	--	--		0	-			SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Frame_Shift_Del_p.D2456fs	211	GBM-28-2509-TP	p.D2661fs	G	AGCAGCATCTGATGAGCCACT	NM_006662	NP_006653	30749342	Q6ZRS2	SRCAP_HUMAN	0	Colorectal(24;0.198)		34	8366	+	-	-			Frame_Shift_Del	2661			Pro-rich.			
SRCAP	0	broad.mit.edu	GRCh37	16	30748891	30748894	+	frameshift_variant	Frame_Shift_Del	DEL	TCAT	TCAT	-			TCGA-76-4932-01	TCGA-76-4932-01	TCAT	TCAT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262518.4:c.7530_7533delTCAT	p.Thr2512ArgfsTer9	p.T2512Rfs*9	ENST00000262518	NM_006662.2	2510	gcTCAT/gc	0			1			-	AH/X	uc002dze.1	protein_coding	YES	CCDS10689.2			7530-7533/9693									ovary(3)|skin(1)	4	c.(7528-7533)GCTCATfs			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF581,Low_complexity_(Seg):seg	Snf2-related CBP activator protein				ENSP00000262518		34/34										34/34	.		ENST00000262518	Transcript	1		interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	ENSG00000080603	g.chr16:30748891_30748894delTCAT	16974			HIGH								--	--	1																																		SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Frame_Shift_Del_p.A2305fs		1			p.A2510fs	NM_006662	NP_006653				SRCAP_HUMAN	SRCAP	HGNC	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		G1UI29_HUMAN,C9J4U4_HUMAN		34	7915_7918	+			UPI000059D368	2510_2511			Pro-rich.		deletion	SRCAP,frameshift_variant,p.Thr2512ArgfsTer9,ENST00000262518,NM_006662.2;SRCAP,frameshift_variant,p.Thr2450ArgfsTer9,ENST00000395059,;SRCAP,frameshift_variant,p.Thr2354ArgfsTer9,ENST00000344771,;RP11-2C24.4,upstream_gene_variant,,ENST00000483578,;SRCAP,frameshift_variant,p.Thr2335ArgfsTer9,ENST00000380361,;SRCAP,downstream_gene_variant,,ENST00000474008,;	uc002dze.1	c.7530_7533delTCAT	7915-7918/10474	5	5			c.7530_7533delTCAT						16	DEL	c.(7528-7533)GCTCATfs	33	33			ovary(3)|skin(1)	4	Broad	Snf2-related CBP activator protein			30748894		0.27	ENSG00000080603	14903	g.chr16:30748891_30748894delTCAT	interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity																				0.38	1	1	0	1	0	0	0	0	0	--	--		0	-			SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Frame_Shift_Del_p.A2305fs	271	GBM-76-4932-TP	p.A2510fs	TCAT	ctccaccagctcatacaccgcctc	NM_006662	NP_006653	30748891	Q6ZRS2	SRCAP_HUMAN	0	Colorectal(24;0.198)		34	7915_7918	+	-	-			Frame_Shift_Del	2510_2511			Pro-rich.			
SRCIN1	80725	broad.mit.edu	GRCh37	17	36704805	36704805	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264659.7:c.3258C>T	p.Ile1086=	p.I1086=	ENST00000264659	NM_025248.2	1086	atC/atT	0			1			A	I	uc002hqd.2	protein_coding	YES	CCDS45660.1			3258/3552										0	c.(3256-3258)ATC>ATT			hmmpanther:PTHR22741:SF5,hmmpanther:PTHR22741	SNAP25-interacting protein				ENSP00000264659		17/19	1.65E-05	0.000103				1.51E-05			rs745505032,COSM3402819	17/19	.		ENST00000264659	Transcript			exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding	ENSG00000017373	g.chr17:36704805G>A	29506			LOW								--	--	1																																		SRCIN1_uc002hqf.1_Silent_p.I958I|SRCIN1_uc002hqe.2_Silent_p.I940I	0,1	1			p.I1086I	NM_025248	NP_079524			0,1	SRCN1_HUMAN	SRCIN1	HGNC	Q9C0H9	SRCN1_HUMAN					17	3483	-			UPI0000E27F82	958	I -> L (in Ref. 6; AA sequence).				SNV	SRCIN1,synonymous_variant,p.=,ENST00000264659,NM_025248.2;SRCIN1,synonymous_variant,p.=,ENST00000578925,;SRCIN1,synonymous_variant,p.=,ENST00000542707,;SRCIN1,non_coding_transcript_exon_variant,,ENST00000398579,;SRCIN1,non_coding_transcript_exon_variant,,ENST00000584491,;SRCIN1,downstream_gene_variant,,ENST00000578160,;SRCIN1,upstream_gene_variant,,ENST00000581656,;SRCIN1,non_coding_transcript_exon_variant,,ENST00000577193,;	uc002hqd.2	c.3258C>T	3483/7058	2	2			c.3258C>T						17	SNP	c.(3256-3258)ATC>ATT	35	35				0	Broad	SNAP25-interacting protein			36704805		0.667	ENSG00000017373	14904	g.chr17:36704805G>A	exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding							347.182443	KEEP	65	57	-1	25	24	65	57	-1	352.937673	25	24	0.710345	1	0	0	0	0	0	0	1	0	--	--		0	A			SRCIN1_uc002hqf.1_Silent_p.I958I|SRCIN1_uc002hqe.2_Silent_p.I940I	102	GBM-06-5858-TP	p.I1086I	G	CTAGCTCTGCGATGATGCGAT	NM_025248	NP_079524	36704805	Q9C0H9	SRCN1_HUMAN	0			17	3483	-	A	A			Silent	958	I -> L (in Ref. 6; AA sequence).					
SRCRB4D	0	broad.mit.edu	GRCh37	7	76019569	76019569	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01	TCGA-02-2486-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275560.3:c.1535G>A	p.Arg512His	p.R512H	ENST00000275560	NM_080744.1	512	cGc/cAc	0			1			T	R/H	uc003ufb.2	protein_coding	YES	CCDS5585.1			1535/1728									pancreas(1)	1	c.(1534-1536)CGC>CAC			Superfamily_domains:SSF56487,SMART_domains:SM00202,Pfam_domain:PF00530,Gene3D:3.10.250.10,PROSITE_patterns:PS00420,hmmpanther:PTHR19331:SF258,hmmpanther:PTHR19331,PROSITE_profiles:PS50287	scavenger receptor cysteine rich domain				ENSP00000275560		11-Nov	1.65E-05		8.70E-05			1.51E-05			rs770061203,COSM1091822	11-Nov	.		ENST00000275560	Transcript				extracellular region|membrane	scavenger receptor activity	ENSG00000146700	g.chr7:76019569C>T	14461			MODERATE		2.945	medium	getma.org/?cm=msa&ty=f&p=SRB4D_HUMAN&rb=476&re=573&var=R512H	getma.org/pdb.php?prot=SRB4D_HUMAN&from=476&to=573&var=R512H	getma.org/?cm=var&var=hg19,7,76019569,C,T&fts=all	R512H	--	--	1																																		SRCRB4D_uc003ufa.2_Missense_Mutation_p.A14T	0,1	1		benign(0.081)	p.R512H	NM_080744	NP_542782		deleterious(0.04)	0,1	SRB4D_HUMAN	SRCRB4D	HGNC	Q8WTU2	SRB4D_HUMAN					11	1883	-			UPI000006D197	512			SRCR 4.		SNV	SRCRB4D,missense_variant,p.Arg512His,ENST00000275560,NM_080744.1;SRCRB4D,non_coding_transcript_exon_variant,,ENST00000492979,;	uc003ufb.2	c.1535G>A	1883/2801	2	2			c.1535G>A						7	SNP	c.(1534-1536)CGC>CAC	33	33			pancreas(1)	1	Broad	scavenger receptor cysteine rich domain			76019569		0.667	ENSG00000146700	14905	g.chr7:76019569C>T		extracellular region|membrane	scavenger receptor activity							30.958436	KEEP	10	9	-1	45	52	10	9	-1	39.108372	45	52	0.183908	1	0	0	0	0	1	0	0	0	--	--		0	T			SRCRB4D_uc003ufa.2_Missense_Mutation_p.A14T	8	GBM-02-2486-TP	p.R512H	C	GCCCAGCTGGCGGCACAGGAC	NM_080744	NP_542782	76019569	Q8WTU2	SRB4D_HUMAN	0			11	1883	-	T	T			Missense_Mutation	512			SRCR 4.			
SRCRB4D	0	broad.mit.edu	GRCh37	7	76033702	76033702	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0213-01	TCGA-06-0213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275560.3:c.55G>A	p.Gly19Arg	p.G19R	ENST00000275560	NM_080744.1	19	Ggg/Agg	0			1			T	G/R	uc003ufb.2	protein_coding	YES	CCDS5585.1			55/1728									pancreas(1)	1	c.(55-57)GGG>AGG			hmmpanther:PTHR19331:SF258,hmmpanther:PTHR19331,Cleavage_site_(Signalp):SignalP-noTM	scavenger receptor cysteine rich domain				ENSP00000275560		11-Feb	8.24E-06		8.67E-05						rs761028731,COSM2150822	11-Feb	.		ENST00000275560	Transcript				extracellular region|membrane	scavenger receptor activity	ENSG00000146700	g.chr7:76033702C>T	14461			MODERATE		1.78	low	getma.org/?cm=msa&ty=f&p=SRB4D_HUMAN&rb=1&re=60&var=G19R	NA	getma.org/?cm=var&var=hg19,7,76033702,C,T&fts=all	G19R	--	--	1																																		ZP3_uc003ufc.3_Intron	0,1	1		benign(0.009)	p.G19R	NM_080744	NP_542782		tolerated_low_confidence(0.1)	0,1	SRB4D_HUMAN	SRCRB4D	HGNC	Q8WTU2	SRB4D_HUMAN					2	403	-			UPI000006D197	19					SNV	SRCRB4D,missense_variant,p.Gly19Arg,ENST00000275560,NM_080744.1;ZP3,intron_variant,,ENST00000336517,NM_007155.5;	uc003ufb.2	c.55G>A	403/2801	1	1			c.55G>A						7	SNP	c.(55-57)GGG>AGG	15	15			pancreas(1)	1	Broad	scavenger receptor cysteine rich domain			76033702		0.597	ENSG00000146700	14905	g.chr7:76033702C>T		extracellular region|membrane	scavenger receptor activity							103.771288	KEEP	27	16	-1	66	70	27	16	-1	112.971952	66	70	0.246835	1	0	0	0	0	1	0	0	0	--	--		0	T			ZP3_uc003ufc.3_Intron	49	GBM-06-0213-TP	p.G19R	C	AACCTCCACCCCCAGCGCTTC	NM_080744	NP_542782	76033702	Q8WTU2	SRB4D_HUMAN	0			2	403	-	T	T			Missense_Mutation	19						
SRCRB4D	0	broad.mit.edu	GRCh37	7	76033672	76033672	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-2573-01	TCGA-41-2573-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275560.3:c.85C>T	p.Pro29Ser	p.P29S	ENST00000275560	NM_080744.1	29	Cct/Tct	0			1			A	P/S	uc003ufb.2	protein_coding	YES	CCDS5585.1			85/1728									pancreas(1)	1	c.(85-87)CCT>TCT			hmmpanther:PTHR19331:SF258,hmmpanther:PTHR19331,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	scavenger receptor cysteine rich domain				ENSP00000275560		11-Feb	8.24E-06	9.93E-05							rs748947448,COSM3412306	11-Feb	.		ENST00000275560	Transcript				extracellular region|membrane	scavenger receptor activity	ENSG00000146700	g.chr7:76033672G>A	14461			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=SRB4D_HUMAN&rb=1&re=60&var=P29S	NA	getma.org/?cm=var&var=hg19,7,76033672,G,A&fts=all	P29S	--	--	1																																		ZP3_uc003ufc.3_Intron	0,1	1		benign(0.002)	p.P29S	NM_080744	NP_542782		tolerated_low_confidence(0.19)	0,1	SRB4D_HUMAN	SRCRB4D	HGNC	Q8WTU2	SRB4D_HUMAN					2	433	-			UPI000006D197	29					SNV	SRCRB4D,missense_variant,p.Pro29Ser,ENST00000275560,NM_080744.1;ZP3,intron_variant,,ENST00000336517,NM_007155.5;	uc003ufb.2	c.85C>T	433/2801	2	2			c.85C>T						7	SNP	c.(85-87)CCT>TCT	18	18			pancreas(1)	1	Broad	scavenger receptor cysteine rich domain			76033672		0.507	ENSG00000146700	14905	g.chr7:76033672G>A		extracellular region|membrane	scavenger receptor activity							43.213308	KEEP	8	11	-1	14	13	8	11	-1	43.762683	14	13	0.375	1	0	0	0	0	1	0	0	0	--	--		0	A			ZP3_uc003ufc.3_Intron	252	GBM-41-2573-TP	p.P29S	G	AGGAAGGGAGGGGCAGCACTC	NM_080744	NP_542782	76033672	Q8WTU2	SRB4D_HUMAN	0			2	433	-	A	A			Missense_Mutation	29						
SRD5A1	0	broad.mit.edu	GRCh37	5	6662995	6662995	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1991-01	TCGA-32-1991-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274192.5:c.629C>T	p.Ala210Val	p.A210V	ENST00000274192	NM_001047.2	210	gCc/gTc	0			1			T	A/V	uc003jdw.2	protein_coding	YES	CCDS3870.1			629/780										0	c.(628-630)GCC>GTC			Pfam_domain:PF02544,PIRSF_domain:PIRSF015596,PROSITE_profiles:PS50244,hmmpanther:PTHR10556,hmmpanther:PTHR10556:SF32,Transmembrane_helices:TMhelix	steroid-5-alpha-reductase 1	Dutasteride(DB01126)|Finasteride(DB01216)			ENSP00000274192		5-Apr									COSM1496113	5-Apr	.		ENST00000274192	Transcript			androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity	ENSG00000145545	g.chr5:6662995C>T	11284			MODERATE		2.61	medium	getma.org/?cm=msa&ty=f&p=S5A1_HUMAN&rb=110&re=259&var=A210V	NA	getma.org/?cm=var&var=hg19,5,6662995,C,T&fts=all	A210V	--	--	1																																		SRD5A1_uc011cml.1_RNA|SRD5A1_uc011cmm.1_Missense_Mutation_p.A163V	1	1		probably_damaging(0.967)	p.A210V	NM_001047	NP_001038		deleterious(0)	1	S5A1_HUMAN	SRD5A1	HGNC	P18405	S5A1_HUMAN					4	819	+			UPI00000534C8	210			Helical; (Potential).		SNV	SRD5A1,missense_variant,p.Ala210Val,ENST00000274192,NM_001047.2;SRD5A1,missense_variant,p.Ala163Val,ENST00000538824,;SRD5A1,3_prime_UTR_variant,,ENST00000537411,;SRD5A1,3_prime_UTR_variant,,ENST00000510531,;SRD5A1,3_prime_UTR_variant,,ENST00000513117,;	uc003jdw.2	c.629C>T	863/2308	1	1			c.629C>T						5	SNP	c.(628-630)GCC>GTC	1	1				0	Broad	steroid-5-alpha-reductase 1		Dutasteride(DB01126)|Finasteride(DB01216)	6662995		0.423	ENSG00000145545	14906	g.chr5:6662995C>T	androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity							-45.178306	KEEP	2	9	-1	109	138	2	9	-1	10.283959	109	138	0.030435	1	0	0	0	0	1	0	0	0	--	--		0	T			SRD5A1_uc011cml.1_RNA|SRD5A1_uc011cmm.1_Missense_Mutation_p.A163V	234	GBM-32-1991-TP	p.A210V	C	TGTGGCTATGCCCTGGCCAGC	NM_001047	NP_001038	6662995	P18405	S5A1_HUMAN	0			4	819	+	T	T			Missense_Mutation	210			Helical; (Potential).			
SRD5A2	6716	broad.mit.edu	GRCh37	2	31756490	31756490	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C			TCGA-06-0126-01	TCGA-06-0126-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000405650.1:n.664A>G		p.*222*	ENST00000405650				0			1			C		uc002rnw.1	antisense	YES														0	c.(496-498)ATA>ATG				3-oxo-5 alpha-steroid 4-dehydrogenase 2	Azelaic Acid(DB00548)|Dutasteride(DB01126)																.		ENST00000435713	Transcript			androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity	ENSG00000228563	g.chr2:31756490T>C				MODIFIER	2-Feb	2.265	medium	getma.org/?cm=msa&ty=f&p=S5A2_HUMAN&rb=105&re=254&var=I166M	NA	getma.org/?cm=var&var=hg19,2,31756490,T,C&fts=all	I166M	--	--	1																																							p.I166M	NM_000348	NP_000339					AL133247.2	Clone_based_vega_gene	P31213	S5A2_HUMAN					4	569	-	Acute lymphoblastic leukemia(172;0.155)			166			Helical; (Potential).		SNV	AL133247.2,intron_variant,,ENST00000435713,;SRD5A2,non_coding_transcript_exon_variant,,ENST00000405650,;SRD5A2,non_coding_transcript_exon_variant,,ENST00000233139,;	uc002rnw.1	c.498A>G	-/646	3	3			c.498A>G						2	SNP	c.(496-498)ATA>ATG	9	9				0	Broad	3-oxo-5 alpha-steroid 4-dehydrogenase 2		Azelaic Acid(DB00548)|Dutasteride(DB01126)	31756490		0.433	ENSG00000228563	14907	g.chr2:31756490T>C	androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity							5.542908	KEEP	2	2	-1	7	4	2	2	-1	6.806389	7	4	0.166667	1	0	0	0	0	1	0	0	0	--	--		0	C				13	GBM-06-0126-TP	p.I166M	T	GCTGGCGCAATATATAGTCAC	NM_000348	NP_000339	31756490	P31213	S5A2_HUMAN	0			4	569	-	C	C	Acute lymphoblastic leukemia(172;0.155)		Missense_Mutation	166			Helical; (Potential).			
SREBF1	0	broad.mit.edu	GRCh37	17	17721038	17721038	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-5954-01	TCGA-19-5954-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261646.5:c.1376C>A	p.Pro459His	p.P459H	ENST00000261646	NM_004176.4	459	cCt/cAt	0			1			T	P/H	uc002gru.1	protein_coding		CCDS11189.1			1376/3444									skin(1)	1	c.(1375-1377)CCT>CAT			Low_complexity_(Seg):seg,hmmpanther:PTHR12565,hmmpanther:PTHR12565:SF5	sterol regulatory element binding transcription				ENSP00000261646		19-Jul									COSM2156751,COSM3402640	19-Jul	.		ENST00000261646	Transcript			cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	ENSG00000072310	g.chr17:17721038G>T	11289			MODERATE		2.435	medium	getma.org/?cm=msa&ty=f&p=SRBP1_HUMAN&rb=375&re=574&var=P459H	NA	getma.org/?cm=var&var=hg19,17,17721038,G,T&fts=all	P459H	--	--	1																																		SREBF1_uc002grp.1_Missense_Mutation_p.L29M|SREBF1_uc002grq.1_Translation_Start_Site|SREBF1_uc002grr.1_Missense_Mutation_p.P205H|SREBF1_uc002grs.1_Missense_Mutation_p.P435H|SREBF1_uc002grt.1_Missense_Mutation_p.P489H|SREBF1_uc010cpp.1_Missense_Mutation_p.P435H|SREBF1_uc010cpq.1_Missense_Mutation_p.P459H	1,1			probably_damaging(0.997)	p.P459H	NM_004176	NP_004167		deleterious(0)	1,1	SRBP1_HUMAN	SREBF1	HGNC	P36956	SRBP1_HUMAN			J3QLB6_HUMAN,B5MD58_HUMAN		7	1570	-			UPI0000141126	459			Gly/Pro/Ser-rich.|Cytoplasmic (Potential).|Interaction with LMNA (By similarity).		SNV	SREBF1,missense_variant,p.Pro489His,ENST00000355815,NM_001005291.2;SREBF1,missense_variant,p.Pro459His,ENST00000261646,NM_004176.4;SREBF1,missense_variant,p.Pro205His,ENST00000395757,;SREBF1,missense_variant,p.Pro459His,ENST00000338854,;SREBF1,missense_variant,p.Pro459His,ENST00000435530,;SREBF1,downstream_gene_variant,,ENST00000423161,;SREBF1,upstream_gene_variant,,ENST00000478616,;SREBF1,downstream_gene_variant,,ENST00000577897,;SREBF1,upstream_gene_variant,,ENST00000486311,;MIR33B,upstream_gene_variant,,ENST00000385104,;SREBF1,downstream_gene_variant,,ENST00000583732,;SREBF1,missense_variant,p.Pro205His,ENST00000395751,;SREBF1,missense_variant,p.Pro88His,ENST00000395756,;SREBF1,non_coding_transcript_exon_variant,,ENST00000469356,;SREBF1,non_coding_transcript_exon_variant,,ENST00000471445,;SREBF1,non_coding_transcript_exon_variant,,ENST00000580540,;SREBF1,non_coding_transcript_exon_variant,,ENST00000583080,;SREBF1,non_coding_transcript_exon_variant,,ENST00000487401,;SREBF1,upstream_gene_variant,,ENST00000485080,;SREBF1,upstream_gene_variant,,ENST00000490796,;SREBF1,upstream_gene_variant,,ENST00000581707,;SREBF1,upstream_gene_variant,,ENST00000447641,;SREBF1,downstream_gene_variant,,ENST00000476994,;SREBF1,upstream_gene_variant,,ENST00000578469,;SREBF1,upstream_gene_variant,,ENST00000584760,;SREBF1,downstream_gene_variant,,ENST00000470247,;	uc002gru.1	c.1376C>A	1561/4178	1	1			c.1376C>A						17	SNP	c.(1375-1377)CCT>CAT	11	11			skin(1)	1	Broad	sterol regulatory element binding transcription			17721038		0.607	ENSG00000072310	14909	g.chr17:17721038G>T	cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding							71.459543	KEEP	13	12	0.52	13	19	13	12	0.52	71.60059	13	19	0.446429	1	0	0	0	0	1	0	0	0	--	--		0	T			SREBF1_uc002grp.1_Missense_Mutation_p.L29M|SREBF1_uc002grq.1_Translation_Start_Site|SREBF1_uc002grr.1_Missense_Mutation_p.P205H|SREBF1_uc002grs.1_Missense_Mutation_p.P435H|SREBF1_uc002grt.1_Missense_Mutation_p.P489H|SREBF1_uc010cpp.1_Missense_Mutation_p.P435H|SREBF1_uc010cpq.1_Missense_Mutation_p.P459H	174	GBM-19-5954-TP	p.P459H	G	TGGGCTGTCAGGCTCCGAGTC	NM_004176	NP_004167	17721038	P36956	SRBP1_HUMAN	0			7	1570	-	T	T			Missense_Mutation	459			Gly/Pro/Ser-rich.|Cytoplasmic (Potential).|Interaction with LMNA (By similarity).			
SREBF2	6721	broad.mit.edu	GRCh37	22	42276831	42276831	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01	TCGA-06-0126-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361204.4:c.1873C>T	p.Arg625Cys	p.R625C	ENST00000361204	NM_004599.3	625	Cgc/Tgc	0			1			T	R/C	uc003bbi.2	protein_coding	YES	CCDS14023.1			1873/3426									breast(2)|ovary(1)|central_nervous_system(1)	4	c.(1873-1875)CGC>TGC			hmmpanther:PTHR12565:SF6,hmmpanther:PTHR12565	sterol regulatory element-binding transcription				ENSP00000354476		19-Oct									rs769759580,COSM2149438	19-Oct	.		ENST00000361204	Transcript			cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	ENSG00000198911	g.chr22:42276831C>T	11290			MODERATE		2.525	medium	getma.org/?cm=msa&ty=f&p=SRBP2_HUMAN&rb=582&re=781&var=R625C	NA	getma.org/?cm=var&var=hg19,22,42276831,C,T&fts=all	R625C	--	--	1																																		WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_RNA	0,1	1		probably_damaging(0.991)	p.R625C	NM_004599	NP_004590		deleterious(0)	0,1	SRBP2_HUMAN	SREBF2	HGNC	Q12772	SRBP2_HUMAN			Q8NCY3_HUMAN		10	2042	+			UPI00001678D0	625			Cytoplasmic (Potential).		SNV	SREBF2,missense_variant,p.Arg625Cys,ENST00000361204,NM_004599.3;SREBF2,upstream_gene_variant,,ENST00000491541,;SREBF2,missense_variant,p.Pro658Leu,ENST00000424354,;SREBF2,downstream_gene_variant,,ENST00000462539,;SREBF2,downstream_gene_variant,,ENST00000464119,;	uc003bbi.2	c.1873C>T	2039/5240	1	1			c.1873C>T						22	SNP	c.(1873-1875)CGC>TGC	7	7			breast(2)|ovary(1)|central_nervous_system(1)	4	Broad	sterol regulatory element-binding transcription			42276831		0.647	ENSG00000198911	14910	g.chr22:42276831C>T	cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding							68.041034	KEEP	23	15	-1	35	32	23	15	-1	69.719306	35	32	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	T			WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_RNA	13	GBM-06-0126-TP	p.R625C	C	GAACGTGATCCGCTACAGCCT	NM_004599	NP_004590	42276831	Q12772	SRBP2_HUMAN	0			10	2042	+	T	T			Missense_Mutation	625			Cytoplasmic (Potential).			
SRF	0	broad.mit.edu	GRCh37	6	43141721	43141721	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01	TCGA-19-2619-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265354.4:c.650C>T	p.Thr217Ile	p.T217I	ENST00000265354	NM_003131.2	217	aCc/aTc	0			1			T	T/I	uc003oui.2	protein_coding	YES	CCDS4889.1			650/1527									ovary(1)|breast(1)|central_nervous_system(1)	3	c.(649-651)ACC>ATC			hmmpanther:PTHR11945,hmmpanther:PTHR11945:SF32,Superfamily_domains:SSF55455	serum response factor (c-fos serum response				ENSP00000265354		7-Feb									COSM2156184	7-Feb	.		ENST00000265354	Transcript			angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding	ENSG00000112658	g.chr6:43141721C>T	11291			MODERATE		2.165	medium	getma.org/?cm=msa&ty=f&p=SRF_HUMAN&rb=200&re=347&var=T217I	getma.org/pdb.php?prot=SRF_HUMAN&from=200&to=347&var=T217I	getma.org/?cm=var&var=hg19,6,43141721,C,T&fts=all	T217I	--	--	1																																		SRF_uc011dvf.1_Missense_Mutation_p.T13I	1	1		possibly_damaging(0.507)	p.T217I	NM_003131	NP_003122		deleterious(0)	1	SRF_HUMAN	SRF	HGNC	P11831	SRF_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		F5H6V4_HUMAN		2	1125	+			UPI0000135F3B	217			|Involved in dimerization.		SNV	SRF,missense_variant,p.Thr217Ile,ENST00000265354,NM_003131.2;SRF,missense_variant,p.Thr13Ile,ENST00000457278,;	uc003oui.2	c.650C>T	1008/4200	2	2			c.650C>T						6	SNP	c.(649-651)ACC>ATC	18	18			ovary(1)|breast(1)|central_nervous_system(1)	3	Broad	serum response factor (c-fos serum response			43141721		0.557	ENSG00000112658	14911	g.chr6:43141721C>T	angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			101			101	85.991898	KEEP	18	18	-1	12	29	18	18	-1	86.025836	12	29	0.47619	1	0	0	0	0	1	0	0	0	--	--		0	T			SRF_uc011dvf.1_Missense_Mutation_p.T13I	161	GBM-19-2619-TP	p.T217I	C	CTGATTCAGACCTGCCTCAAC	NM_003131	NP_003122	43141721	P11831	SRF_HUMAN	0	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		2	1125	+	T	T			Missense_Mutation	217			|Involved in dimerization.			
SRGAP1	0	broad.mit.edu	GRCh37	12	64509616	64509616	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355086.3:c.2167G>A	p.Gly723Ser	p.G723S	ENST00000355086	NM_020762.2	723	Ggt/Agt	0			1			A	G/S	uc010ssp.1	protein_coding	YES	CCDS8967.1			2167/3258									ovary(2)|central_nervous_system(2)	4	c.(2167-2169)GGT>AGT			hmmpanther:PTHR14166,hmmpanther:PTHR14166:SF15	SLIT-ROBO Rho GTPase activating protein 1				ENSP00000347198		18/22	2.47E-05					3.28E-05			rs745328019,COSM2155209,COSM3398988	18/22	.		ENST00000355086	Transcript			axon guidance	cytosol		ENSG00000196935	g.chr12:64509616G>A	17382			MODERATE		1.41	low	getma.org/?cm=msa&ty=f&p=SRGP1_HUMAN&rb=673&re=748&var=G723S	NA	getma.org/?cm=var&var=hg19,12,64509616,G,A&fts=all	G723S	--	--	1																																		SRGAP1_uc001srv.2_Missense_Mutation_p.G660S	0,1,1	1		benign(0.296)	p.G723S	NM_020762	NP_065813		deleterious(0.02)	0,1,1	SRGP1_HUMAN	SRGAP1	HGNC	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)			18	2223	+			UPI00001A9CB9	723					SNV	SRGAP1,missense_variant,p.Gly723Ser,ENST00000355086,NM_020762.2;SRGAP1,missense_variant,p.Gly700Ser,ENST00000357825,;SRGAP1,missense_variant,p.Gly660Ser,ENST00000543397,;RP11-196H14.4,intron_variant,,ENST00000535806,;SRGAP1,non_coding_transcript_exon_variant,,ENST00000537585,;	uc010ssp.1	c.2167G>A	2691/8943	2	2			c.2167G>A						12	SNP	c.(2167-2169)GGT>AGT	19	19			ovary(2)|central_nervous_system(2)	4	Broad	SLIT-ROBO Rho GTPase activating protein 1			64509616		0.343	ENSG00000196935	14913	g.chr12:64509616G>A	axon guidance	cytosol								23.659078	KEEP	4	6	-1	15	13	4	6	-1	25.360945	15	13	0.264706	1	0	0	0	0	1	0	0	0	--	--		0	A			SRGAP1_uc001srv.2_Missense_Mutation_p.G660S	142	GBM-14-1034-TP	p.G723S	G	CAGTGAGCACGGTACATTGGA	NM_020762	NP_065813	64509616	Q7Z6B7	SRGP1_HUMAN	0	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	18	2223	+	A	A			Missense_Mutation	723						
SRGAP1	0	broad.mit.edu	GRCh37	12	64491111	64491111	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355086.3:c.1769C>T	p.Pro590Leu	p.P590L	ENST00000355086	NM_020762.2	590	cCc/cTc	0			1			T	P/L	uc010ssp.1	protein_coding	YES	CCDS8967.1			1769/3258									ovary(2)|central_nervous_system(2)	4	c.(1768-1770)CCC>CTC			PROSITE_profiles:PS50238,hmmpanther:PTHR14166,hmmpanther:PTHR14166:SF15,Pfam_domain:PF00620,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350	SLIT-ROBO Rho GTPase activating protein 1				ENSP00000347198		15/22									COSM3398984,COSM3398985	15/22	.		ENST00000355086	Transcript			axon guidance	cytosol		ENSG00000196935	g.chr12:64491111C>T	17382			MODERATE		3.825	high	getma.org/?cm=msa&ty=f&p=SRGP1_HUMAN&rb=520&re=672&var=P590L	getma.org/pdb.php?prot=SRGP1_HUMAN&from=520&to=672&var=P590L	getma.org/?cm=var&var=hg19,12,64491111,C,T&fts=all	P590L	--	--	1																																		SRGAP1_uc001srv.2_Missense_Mutation_p.P527L	1,1	1		probably_damaging(0.969)	p.P590L	NM_020762	NP_065813		deleterious(0)	1,1	SRGP1_HUMAN	SRGAP1	HGNC	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)			15	1825	+			UPI00001A9CB9	590			Rho-GAP.		SNV	SRGAP1,missense_variant,p.Pro590Leu,ENST00000355086,NM_020762.2;SRGAP1,missense_variant,p.Pro567Leu,ENST00000357825,;SRGAP1,missense_variant,p.Pro527Leu,ENST00000543397,;RP11-196H14.2,intron_variant,,ENST00000535594,;	uc010ssp.1	c.1769C>T	2293/8943	2	2			c.1769C>T						12	SNP	c.(1768-1770)CCC>CTC	41	41			ovary(2)|central_nervous_system(2)	4	Broad	SLIT-ROBO Rho GTPase activating protein 1			64491111		0.378	ENSG00000196935	14913	g.chr12:64491111C>T	axon guidance	cytosol								183.932523	KEEP	33	24	-1	18	17	33	24	-1	185.136629	18	17	0.625	1	0	0	0	0	1	0	0	0	--	--		0	T			SRGAP1_uc001srv.2_Missense_Mutation_p.P527L	159	GBM-19-1390-TP	p.P590L	C	CTGGAAAACCCCCTCTTTCCT	NM_020762	NP_065813	64491111	Q7Z6B7	SRGP1_HUMAN	0	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	15	1825	+	T	T			Missense_Mutation	590			Rho-GAP.			
SRGAP3	9901	broad.mit.edu	GRCh37	3	9034619	9034619	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0879-01	TCGA-06-0879-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000383836.3:c.2529G>A	p.Ser843=	p.S843=	ENST00000383836	NM_014850.3	843	tcG/tcA	0		T:0	1	T:0		T	S	uc003brf.1	protein_coding	YES	CCDS2572.1			2529/3300	T		RAF1		pilocytic astrocytoma		SRGAP3/RAF1(4)		central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9	c.(2527-2529)TCG>TCA			hmmpanther:PTHR14166:SF8,hmmpanther:PTHR14166	SLIT-ROBO Rho GTPase activating protein 3		T:0		ENSP00000373347	T:0	20/22	8.24E-05			0.000116		3.00E-05		0.000424	rs552319348,COSM3408899	20/22	common_variant		ENST00000383836	Transcript	1	T:0.0002	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	ENSG00000196220	g.chr3:9034619C>T	19744			LOW								--	--	1																																		SRGAP3_uc003brg.1_Silent_p.S819S	0,1	1			p.S843S	NM_014850	NP_055665	T:0.001		0,1	SRGP3_HUMAN	SRGAP3	HGNC	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)			20	3205	-			UPI0000074099	843					SNV	SRGAP3,synonymous_variant,p.=,ENST00000383836,NM_014850.3;SRGAP3,synonymous_variant,p.=,ENST00000360413,NM_001033117.2;SRGAP3,downstream_gene_variant,,ENST00000520860,;SRGAP3,non_coding_transcript_exon_variant,,ENST00000491467,;	uc003brf.1	c.2529G>A	2957/8656	2	2			c.2529G>A	T		RAF1		pilocytic astrocytoma	3	SNP	c.(2527-2529)TCG>TCA	18	18	SRGAP3/RAF1(4)		central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9	Broad	SLIT-ROBO Rho GTPase activating protein 3			9034619		0.557	ENSG00000196220	14915	g.chr3:9034619C>T	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding							-14.006692	KEEP	4	5	-1	61	89	4	5	-1	16.20667	61	89	0.055172	1	0	0	0	0	0	0	1	0	--	--		0	T			SRGAP3_uc003brg.1_Silent_p.S819S	75	GBM-06-0879-TP	p.S843S	C	AGCCGTAATCCGAGATGTGCT	NM_014850	NP_055665	9034619	O43295	SRGP2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	20	3205	-	T	T			Silent	843						
SRGAP3	9901	broad.mit.edu	GRCh37	3	9055068	9055068	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-06-2561-01	TCGA-06-2561-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000383836.3:c.2071G>T	p.Glu691Ter	p.E691*	ENST00000383836	NM_014850.3	691	Gaa/Taa	0			1			A	E/*	uc003brf.1	protein_coding	YES	CCDS2572.1			2071/3300	T		RAF1		pilocytic astrocytoma		SRGAP3/RAF1(4)		central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9	c.(2071-2073)GAA>TAA			PROSITE_profiles:PS50238,hmmpanther:PTHR14166:SF8,hmmpanther:PTHR14166,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350	SLIT-ROBO Rho GTPase activating protein 3				ENSP00000373347		17/22									COSM2152726	17/22	.		ENST00000383836	Transcript	1		regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	ENSG00000196220	g.chr3:9055068C>A	19744			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,3,9055068,C,A&fts=all	E691*	--	--	1																																		SRGAP3_uc003brg.1_Nonsense_Mutation_p.E667*	1	1			p.E691*	NM_014850	NP_055665			1	SRGP3_HUMAN	SRGAP3	HGNC	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)			17	2747	-			UPI0000074099	691					SNV	SRGAP3,stop_gained,p.Glu691Ter,ENST00000383836,NM_014850.3;SRGAP3,stop_gained,p.Glu667Ter,ENST00000360413,NM_001033117.2;SRGAP3-AS1,upstream_gene_variant,,ENST00000414633,;SRGAP3,non_coding_transcript_exon_variant,,ENST00000518265,;SRGAP3,downstream_gene_variant,,ENST00000433332,;SRGAP3,downstream_gene_variant,,ENST00000475560,;SRGAP3,upstream_gene_variant,,ENST00000520860,;	uc003brf.1	c.2071G>T	2499/8656	5	1			c.2071G>T	T		RAF1		pilocytic astrocytoma	3	SNP	c.(2071-2073)GAA>TAA	60	60	SRGAP3/RAF1(4)		central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9	Broad	SLIT-ROBO Rho GTPase activating protein 3			9055068		0.512	ENSG00000196220	14915	g.chr3:9055068C>A	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding							58.346726	KEEP	13	15	0.535714286	37	47	13	15	0.535714286	64.159922	37	47	0.244898	1	0	0	0	0	0	1	0	0	--	--		0	A			SRGAP3_uc003brg.1_Nonsense_Mutation_p.E667*	84	GBM-06-2561-TP	p.E691*	C	AAGATGGCTTCATGATGGATG	NM_014850	NP_055665	9055068	O43295	SRGP2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	17	2747	-	A	A			Nonsense_Mutation	691						
SRL	0	broad.mit.edu	GRCh37	16	4242554	4242554	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-3915-01	TCGA-41-3915-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399609.3:c.1022G>A	p.Arg341His	p.R341H	ENST00000399609	NM_001098814.1	341	cGc/cAc	0			1			T	R/H	uc002cvz.3	protein_coding	YES	CCDS42113.1			1022/1422									ovary(3)|skin(2)	5	c.(1021-1023)CGC>CAC			hmmpanther:PTHR11216,hmmpanther:PTHR11216:SF66,Superfamily_domains:SSF52540	sarcalumenin				ENSP00000382518		6-Jun									COSM557978	6-Jun	.		ENST00000399609	Transcript				sarcoplasmic reticulum lumen	GTP binding|GTPase activity	ENSG00000185739	g.chr16:4242554C>T	11295			MODERATE		2.445	medium	getma.org/?cm=msa&ty=f&p=SRCA_HUMAN&rb=717&re=916&var=R800H	getma.org/pdb.php?prot=SRCA_HUMAN&from=717&to=916&var=R800H	getma.org/?cm=var&var=hg19,16,4242554,C,T&fts=all	R800H	--	--	1																																		SRL_uc002cvy.3_RNA	1	1		probably_damaging(0.999)	p.R341H	NM_001098814	NP_001092284		deleterious(0)	1	SRCA_HUMAN	SRL	HGNC	Q86TD4	SRCA_HUMAN			B4DYT9_HUMAN		6	1035	-			UPI00006688CC	800					SNV	SRL,missense_variant,p.Arg341His,ENST00000399609,NM_001098814.1;SRL,missense_variant,p.Arg299His,ENST00000537996,;SRL,3_prime_UTR_variant,,ENST00000572111,;	uc002cvz.3	c.1022G>A	1035/4214	2	2			c.1022G>A						16	SNP	c.(1021-1023)CGC>CAC	45	45			ovary(3)|skin(2)	5	Broad	sarcalumenin			4242554		0.512	ENSG00000185739	14918	g.chr16:4242554C>T		sarcoplasmic reticulum lumen	GTP binding|GTPase activity							-85.588318	KEEP	3	4	-1	214	270	3	4	-1	9.55765	214	270	0.019126	1	0	0	0	0	1	0	0	0	--	--		0	T			SRL_uc002cvy.3_RNA	256	GBM-41-3915-TP	p.R341H	C	GGCGTGGATGCGGACCCGGAT	NM_001098814	NP_001092284	4242554	Q86TD4	SRCA_HUMAN	0			6	1035	-	T	T			Missense_Mutation	800						
SRL	6345		GRCh37	16	4245578	4245578	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000399609.3:c.586G>A	p.Glu196Lys	p.E196K	ENST00000399609	NM_001098814.1	196	Gag/Aag	0																																																																																																																																																																																																																																												
SRMS	0	broad.mit.edu	GRCh37	20	62172863	62172863	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs61740255		TCGA-12-0821-01	TCGA-12-0821-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217188.1:c.1057G>A	p.Ala353Thr	p.A353T	ENST00000217188	NM_080823.2	353	Gcc/Acc	0	T:0		1			T	A/T	uc002yfi.1	protein_coding	YES	CCDS13525.1			1057/1467									stomach(1)|lung(1)	2	c.(1057-1059)GCC>ACC			PROSITE_profiles:PS50011,hmmpanther:PTHR24418:SF23,hmmpanther:PTHR24418,PROSITE_patterns:PS00109,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109	src-related kinase lacking C-terminal regulatory			T:0.0001	ENSP00000217188		8-Jun	9.13E-05	0.000156	0.00031	0.000188		0.000143			rs61740255,COSM1227561	8-Jun	.		ENST00000217188	Transcript					ATP binding|non-membrane spanning protein tyrosine kinase activity	ENSG00000125508	g.chr20:62172863C>T	11298			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=SRMS_HUMAN&rb=230&re=480&var=A353T	getma.org/pdb.php?prot=SRMS_HUMAN&from=230&to=480&var=A353T	getma.org/?cm=var&var=hg19,20,62172863,C,T&fts=all	A353T	--	--	1																																			0,1	1		probably_damaging(0.991)	p.A353T	NM_080823	NP_543013		deleterious(0)	0,1	SRMS_HUMAN	SRMS	HGNC	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)				6	1098	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		UPI000004F1F3	353			Protein kinase.		SNV	SRMS,missense_variant,p.Ala353Thr,ENST00000217188,NM_080823.2;PTK6,upstream_gene_variant,,ENST00000217185,NM_005975.3;PTK6,upstream_gene_variant,,ENST00000542869,NM_001256358.1;	uc002yfi.1	c.1057G>A	1098/1516	2	2			c.1057G>A						20	SNP	c.(1057-1059)GCC>ACC	46	46			stomach(1)|lung(1)	2	Broad	src-related kinase lacking C-terminal regulatory			62172863		0.706	ENSG00000125508	14920	g.chr20:62172863C>T			ATP binding|non-membrane spanning protein tyrosine kinase activity			557			557	57.220222	KEEP	11	10	-1	14	7	11	10	-1	57.220222	14	7	0.5	1	0	0	0	0	1	0	0	0	--	--		0	T				123	GBM-12-0821-TP	p.A353T	C	ACGTTCCGGGCGGCCAAGTCC	NM_080823	NP_543013	62172863	Q9H3Y6	SRMS_HUMAN	0	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		6	1098	-	T	T	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Missense_Mutation	353			Protein kinase.			
SRMS	0	broad.mit.edu	GRCh37	20	62178625	62178625	+	synonymous_variant	Silent	SNP	C	C	T	rs140773907		TCGA-19-5959-01	TCGA-19-5959-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217188.1:c.192G>A	p.Ala64=	p.A64=	ENST00000217188	NM_080823.2	64	gcG/gcA	0	T:0	A:0	1	A:0.0014		T	A	uc002yfi.1	protein_coding	YES	CCDS13525.1			192/1467									stomach(1)|lung(1)	2	c.(190-192)GCG>GCA			PROSITE_profiles:PS50002,hmmpanther:PTHR24418:SF23,hmmpanther:PTHR24418,Gene3D:2.30.30.40,Pfam_domain:PF14604,SMART_domains:SM00326,Superfamily_domains:SSF50044	src-related kinase lacking C-terminal regulatory		A:0	T:0.0001	ENSP00000217188	A:0	8-Jan	7.45E-05				0.000415	6.91E-05		0.000133	rs140773907,COSM3405282	8-Jan	common_variant		ENST00000217188	Transcript		A:0.0002			ATP binding|non-membrane spanning protein tyrosine kinase activity	ENSG00000125508	g.chr20:62178625C>T	11298			LOW								--	--	1																																			0,1	1			p.A64A	NM_080823	NP_543013	A:0		0,1	SRMS_HUMAN	SRMS	HGNC	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)				1	233	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		UPI000004F1F3	64			SH3.		SNV	SRMS,synonymous_variant,p.=,ENST00000217188,NM_080823.2;	uc002yfi.1	c.192G>A	233/1516	2	2			c.192G>A						20	SNP	c.(190-192)GCG>GCA	41	41			stomach(1)|lung(1)	2	Broad	src-related kinase lacking C-terminal regulatory			62178625		0.692	ENSG00000125508	14920	g.chr20:62178625C>T			ATP binding|non-membrane spanning protein tyrosine kinase activity			557			557	270.215491	KEEP	84	77	-1	221	212	84	77	-1	289.864296	221	212	0.272512	1	0	0	0	0	0	0	1	0	--	--		0	T				177	GBM-19-5959-TP	p.A64A	C	CGCCACACCGCGCCGTGAAGT	NM_080823	NP_543013	62178625	Q9H3Y6	SRMS_HUMAN	0	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		1	233	-	T	T	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Silent	64			SH3.			
SRP54	0	broad.mit.edu	GRCh37	14	35465958	35465958	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01	TCGA-19-2631-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216774.6:c.43C>T	p.Arg15Cys	p.R15C	ENST00000216774	NM_003136.3	15	Cgc/Tgc	0			1			T	R/C	uc001wso.2	protein_coding		CCDS9652.1			43/1515									ovary(1)	1	c.(43-45)CGC>TGC			Superfamily_domains:SSF47364,SMART_domains:SM00963,TIGRFAM_domain:TIGR01425,Pfam_domain:PF02881,Gene3D:1.20.120.140,hmmpanther:PTHR11564:SF5,hmmpanther:PTHR11564,HAMAP:MF_00306	signal recognition particle 54kDa isoform 1				ENSP00000216774		16-Feb									COSM2156412	16-Feb	.		ENST00000216774	Transcript			GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding	ENSG00000100883	g.chr14:35465958C>T	11301			MODERATE		3.155	medium	getma.org/?cm=msa&ty=f&p=SRP54_HUMAN&rb=6&re=83&var=R15C	getma.org/pdb.php?prot=SRP54_HUMAN&from=6&to=83&var=R15C	getma.org/?cm=var&var=hg19,14,35465958,C,T&fts=all	R15C	--	--	1																																		SRP54_uc010tpp.1_Translation_Start_Site|SRP54_uc010tpq.1_Intron	1			probably_damaging(0.914)	p.R15C	NM_003136	NP_003127		deleterious(0.02)	1	SRP54_HUMAN	SRP54	HGNC	P61011	SRP54_HUMAN	LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)	G3V4F7_HUMAN,G3V480_HUMAN,G3V346_HUMAN		2	394	+	Breast(36;0.0545)|Hepatocellular(127;0.158)		UPI0000135EE0	15			G-domain.		SNV	SRP54,missense_variant,p.Arg15Cys,ENST00000556994,;SRP54,missense_variant,p.Arg15Cys,ENST00000216774,NM_003136.3;SRP54,missense_variant,p.Arg15Cys,ENST00000554803,;SRP54,missense_variant,p.Arg15Cys,ENST00000555746,;SRP54,5_prime_UTR_variant,,ENST00000546080,NM_001146282.1;SRP54,5_prime_UTR_variant,,ENST00000555557,;SRP54,non_coding_transcript_exon_variant,,ENST00000555535,;SRP54,missense_variant,p.Arg15Cys,ENST00000556380,;SRP54,non_coding_transcript_exon_variant,,ENST00000555317,;SRP54,non_coding_transcript_exon_variant,,ENST00000553544,;	uc001wso.2	c.43C>T	394/2279	2	2			c.43C>T						14	SNP	c.(43-45)CGC>TGC	28	28			ovary(1)	1	Broad	signal recognition particle 54kDa isoform 1			35465958		0.343	ENSG00000100883	14923	g.chr14:35465958C>T	GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding							248.085665	KEEP	50	56	-1	61	98	50	56	-1	250.019304	61	98	0.397129	1	0	0	0	0	1	0	0	0	--	--		0	T			SRP54_uc010tpp.1_Translation_Start_Site|SRP54_uc010tpq.1_Intron	167	GBM-19-2631-TP	p.R15C	C	ATCAGCATTACGCTCGTTGAG	NM_003136	NP_003127	35465958	P61011	SRP54_HUMAN	0	LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)	2	394	+	T	T	Breast(36;0.0545)|Hepatocellular(127;0.158)		Missense_Mutation	15			G-domain.			
SRPK1	0	broad.mit.edu	GRCh37	6	35838178	35838178	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-6282-01	TCGA-76-6282-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373825.2:c.871G>C	p.Glu291Gln	p.E291Q	ENST00000373825		291	Gaa/Caa	0			1			G	E/Q	uc003olj.2	protein_coding	YES	CCDS47415.1			871/1968									ovary(1)	1	c.(871-873)GAA>CAA			Coiled-coils_(Ncoils):Coil,SMART_domains:SM00220,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF101,PROSITE_profiles:PS50011	SFRS protein kinase 1				ENSP00000362931		16-Oct									COSM3411033,COSM3411034	16-Oct	.		ENST00000373825	Transcript			cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	ENSG00000096063	g.chr6:35838178C>G	11305			MODERATE		1.18	low	getma.org/?cm=msa&ty=f&p=SRPK1_HUMAN&rb=80&re=653&var=E291Q	NA	getma.org/?cm=var&var=hg19,6,35838178,C,G&fts=all	E291Q	--	--	1																																		SRPK1_uc011dtg.1_Missense_Mutation_p.E275Q|SRPK1_uc003olh.2_Missense_Mutation_p.E184Q|SRPK1_uc003oli.2_Missense_Mutation_p.E184Q	1,1	1		benign(0.016)	p.E291Q	NM_003137	NP_003128		tolerated(0.2)	1,1	SRPK1_HUMAN	SRPK1	HGNC	Q96SB4	SRPK1_HUMAN			D6RBF8_HUMAN		10	994	-			UPI000020DBDD	291			Protein kinase.		SNV	SRPK1,missense_variant,p.Glu291Gln,ENST00000373825,;SRPK1,missense_variant,p.Glu184Gln,ENST00000373822,;SRPK1,missense_variant,p.Glu275Gln,ENST00000423325,NM_003137.4;SRPK1,missense_variant,p.Glu307Gln,ENST00000361690,;SRPK1,missense_variant,p.Glu29Gln,ENST00000510290,;SRPK1,downstream_gene_variant,,ENST00000373821,;SRPK1,non_coding_transcript_exon_variant,,ENST00000346162,;SRPK1,intron_variant,,ENST00000502969,;SRPK1,upstream_gene_variant,,ENST00000507292,;	uc003olj.2	c.871G>C	1157/4592	3	3			c.871G>C						6	SNP	c.(871-873)GAA>CAA	6	6			ovary(1)	1	Broad	SFRS protein kinase 1			35838178		0.383	ENSG00000096063	14927	g.chr6:35838178C>G	cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	NSCLC(31;67 978 16289 24856 26454)		211	NSCLC(31;67 978 16289 24856 26454)		211	5.04157	KEEP	1	1	-1	4	7	1	1	-1	6.530572	4	7	0.153846	1	0	0	0	0	1	0	0	0	--	--		0	G			SRPK1_uc011dtg.1_Missense_Mutation_p.E275Q|SRPK1_uc003olh.2_Missense_Mutation_p.E184Q|SRPK1_uc003oli.2_Missense_Mutation_p.E184Q	278	GBM-76-6282-TP	p.E291Q	C	TTCTCCATTTCCTCAATTTCC	NM_003137	NP_003128	35838178	Q96SB4	SRPK1_HUMAN	0			10	994	-	G	G			Missense_Mutation	291			Protein kinase.			
SRPK2	6733	broad.mit.edu	GRCh37	7	104782492	104782492	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0125-01	TCGA-06-0125-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393651.3:c.1506A>G	p.Arg502=	p.R502=	ENST00000393651	NM_182692.2	502	agA/agG	0			1			C	R	uc003vct.2	protein_coding		CCDS5735.1			1473/2067								p.R491R(1)	central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1)	6	c.(1471-1473)AGA>AGG			PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF102,SMART_domains:SM00220	serine/arginine-rich protein-specific kinase 2				ENSP00000349863		15-Oct									COSM35813,COSM3411445	15-Oct	.		ENST00000357311	Transcript			angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	ENSG00000135250	g.chr7:104782492T>C	11306			LOW								--	--	1																																		SRPK2_uc003vcu.2_Silent_p.R491R|SRPK2_uc003vcv.2_Silent_p.R502R|SRPK2_uc003vcw.1_Silent_p.R491R	1,1				p.R491R	NM_182691	NP_872633			1,1	SRPK2_HUMAN	SRPK2	HGNC	P78362	SRPK2_HUMAN			C9J2M4_HUMAN		10	1660	-			UPI000007420D	491			Protein kinase.		SNV	SRPK2,synonymous_variant,p.=,ENST00000357311,NM_182691.2;SRPK2,synonymous_variant,p.=,ENST00000393651,NM_182692.2;SRPK2,synonymous_variant,p.=,ENST00000489828,NM_001278273.1;SRPK2,synonymous_variant,p.=,ENST00000477925,;SRPK2,intron_variant,,ENST00000485455,;SRPK2,non_coding_transcript_exon_variant,,ENST00000466917,;	uc003vct.2	c.1473A>G	1645/3700	4	4			c.1473A>G						7	SNP	c.(1471-1473)AGA>AGG	33	33		p.R491R(1)	central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1)	6	Broad	serine/arginine-rich protein-specific kinase 2			104782492		0.512	ENSG00000135250	14928	g.chr7:104782492T>C	angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			326			326	142.569972	KEEP	27	32	-1	76	100	27	32	-1	156.609309	76	100	0.231132	1	0	0	0	0	0	0	1	0	--	--		0	C			SRPK2_uc003vcu.2_Silent_p.R491R|SRPK2_uc003vcv.2_Silent_p.R502R|SRPK2_uc003vcw.1_Silent_p.R491R	12	GBM-06-0125-TP	p.R491R	T	CTGAAACCGTTCTGCTTCTGT	NM_182691	NP_872633	104782492	P78362	SRPK2_HUMAN	0			10	1660	-	C	C			Silent	491			Protein kinase.			
SRPK2	6733	broad.mit.edu	GRCh37	7	104782641	104782641	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0155-01	TCGA-06-0155-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393651.3:c.1357C>T	p.Arg453Ter	p.R453*	ENST00000393651	NM_182692.2	453	Cga/Tga	0			1			A	R/*	uc003vct.2	protein_coding		CCDS5735.1			1324/2067									central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1)	6	c.(1324-1326)CGA>TGA			PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF102,SMART_domains:SM00220	serine/arginine-rich protein-specific kinase 2				ENSP00000349863		15-Oct									COSM2150000,COSM3411446	15-Oct	.		ENST00000357311	Transcript			angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	ENSG00000135250	g.chr7:104782641G>A	11306			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,104782641,G,A&fts=all	R442*	--	--	1																																		SRPK2_uc003vcu.2_Nonsense_Mutation_p.R442*|SRPK2_uc003vcv.2_Nonsense_Mutation_p.R453*|SRPK2_uc003vcw.1_Nonsense_Mutation_p.R442*	1,1				p.R442*	NM_182691	NP_872633			1,1	SRPK2_HUMAN	SRPK2	HGNC	P78362	SRPK2_HUMAN			C9J2M4_HUMAN		10	1511	-			UPI000007420D	442			Protein kinase.		SNV	SRPK2,stop_gained,p.Arg442Ter,ENST00000357311,NM_182691.2;SRPK2,stop_gained,p.Arg453Ter,ENST00000393651,NM_182692.2;SRPK2,stop_gained,p.Arg442Ter,ENST00000489828,NM_001278273.1;SRPK2,stop_gained,p.Arg49Ter,ENST00000477925,;SRPK2,intron_variant,,ENST00000485455,;SRPK2,non_coding_transcript_exon_variant,,ENST00000466917,;	uc003vct.2	c.1324C>T	1496/3700	5	1			c.1324C>T						7	SNP	c.(1324-1326)CGA>TGA	56	56			central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1)	6	Broad	serine/arginine-rich protein-specific kinase 2			104782641		0.448	ENSG00000135250	14928	g.chr7:104782641G>A	angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			326			326	307.015835	KEEP	56	66	-1	149	159	56	66	-1	322.77892	149	159	0.29	1	0	0	0	0	0	1	0	0	--	--		0	A			SRPK2_uc003vcu.2_Nonsense_Mutation_p.R442*|SRPK2_uc003vcv.2_Nonsense_Mutation_p.R453*|SRPK2_uc003vcw.1_Nonsense_Mutation_p.R442*	27	GBM-06-0155-TP	p.R442*	G	ATTTTATGTCGTCCATTTGGC	NM_182691	NP_872633	104782641	P78362	SRPK2_HUMAN	0			10	1511	-	A	A			Nonsense_Mutation	442			Protein kinase.			
SRPK3	26576	broad.mit.edu	GRCh37	X	153049494	153049494	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0650-01	TCGA-06-0650-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370101.3:c.973G>A	p.Ala325Thr	p.A325T	ENST00000370101	NM_001170760.1	325	Gcc/Acc	0			1			A	A/T	uc004fil.2	protein_coding	YES	CCDS35441.1			973/1704									pancreas(2)|lung(1)	3	c.(973-975)GCC>ACC			PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF100,Low_complexity_(Seg):seg,SMART_domains:SM00220	serine arginine rich protein-specific kinase 3				ENSP00000359119		15-Oct									COSM3406118	15-Oct	.		ENST00000370101	Transcript			cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity	ENSG00000184343	g.chrX:153049494G>A	11402			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=SRPK3_HUMAN&rb=288&re=359&var=A325T	NA	getma.org/?cm=var&var=hg19,X,153049494,G,A&fts=all	A325T	--	--	1																																		SRPK3_uc004fik.2_Missense_Mutation_p.A391T|SRPK3_uc010nul.2_Intron|SRPK3_uc004fin.2_Missense_Mutation_p.A324T|SRPK3_uc004fim.2_Intron	1	1		possibly_damaging(0.499)	p.A325T	NM_014370	NP_055185		tolerated(0.67)	1	SRPK3_HUMAN	SRPK3	HGNC	Q9UPE1	SRPK3_HUMAN					10	1005	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		UPI000050571A	325			Protein kinase.		SNV	SRPK3,missense_variant,p.Ala392Thr,ENST00000489426,;SRPK3,missense_variant,p.Ala325Thr,ENST00000370101,NM_001170760.1,NM_014370.3;SRPK3,missense_variant,p.Ala324Thr,ENST00000370104,;SRPK3,intron_variant,,ENST00000393786,NM_001170761.1;SRPK3,intron_variant,,ENST00000370108,;SRPK3,intron_variant,,ENST00000370100,;PLXNB3,downstream_gene_variant,,ENST00000538966,NM_001163257.1;PLXNB3,downstream_gene_variant,,ENST00000361971,NM_005393.2;PLXNB3,downstream_gene_variant,,ENST00000538776,;IDH3G,downstream_gene_variant,,ENST00000370092,NM_174869.2;IDH3G,downstream_gene_variant,,ENST00000370093,;IDH3G,downstream_gene_variant,,ENST00000427365,;IDH3G,downstream_gene_variant,,ENST00000217901,NM_004135.3;IDH3G,downstream_gene_variant,,ENST00000444450,;IDH3G,downstream_gene_variant,,ENST00000454076,;SRPK3,downstream_gene_variant,,ENST00000430541,;IDH3G,downstream_gene_variant,,ENST00000444338,;SRPK3,upstream_gene_variant,,ENST00000458681,;IDH3G,downstream_gene_variant,,ENST00000497043,;IDH3G,downstream_gene_variant,,ENST00000461215,;IDH3G,downstream_gene_variant,,ENST00000495356,;PLXNB3,downstream_gene_variant,,ENST00000472415,;PLXNB3,downstream_gene_variant,,ENST00000469190,;	uc004fil.2	c.973G>A	1019/1958	2	2			c.973G>A						23	SNP	c.(973-975)GCC>ACC	47	47			pancreas(2)|lung(1)	3	Broad	serine arginine rich protein-specific kinase 3			153049494		0.697	ENSG00000184343	14929	g.chrX:153049494G>A	cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity	Esophageal Squamous(167;766 3400 32156)		307	Esophageal Squamous(167;766 3400 32156)		307	19.292014	KEEP	5	5	-1	19	27	5	5	-1	24.28492	19	27	0.176471	1	0	0	0	0	1	0	0	0	--	--		0	A			SRPK3_uc004fik.2_Missense_Mutation_p.A391T|SRPK3_uc010nul.2_Intron|SRPK3_uc004fin.2_Missense_Mutation_p.A324T|SRPK3_uc004fim.2_Intron	63	GBM-06-0650-TP	p.A325T	G	CCCCGGGGGCGCCAGAGCAGG	NM_014370	NP_055185	153049494	Q9UPE1	SRPK3_HUMAN	0			10	1005	+	A	A	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	325			Protein kinase.			
SRPK3	0	broad.mit.edu	GRCh37	X	153050273	153050273	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-12-1597-01	TCGA-12-1597-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370101.3:c.1317A>G	p.Glu439=	p.E439=	ENST00000370101	NM_001170760.1	439	gaA/gaG	0			1			G	E	uc004fil.2	protein_coding	YES	CCDS35441.1			1317/1704									pancreas(2)|lung(1)	3	c.(1315-1317)GAA>GAG			Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF100,SMART_domains:SM00220,Superfamily_domains:SSF56112	serine arginine rich protein-specific kinase 3				ENSP00000359119		15-Dec									COSM3406120,COSM3406119	15-Dec	.		ENST00000370101	Transcript			cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity	ENSG00000184343	g.chrX:153050273A>G	11402			LOW								--	--	1																																		SRPK3_uc004fik.2_Silent_p.E505E|SRPK3_uc010nul.2_Silent_p.E363E|SRPK3_uc004fin.2_Silent_p.E438E|SRPK3_uc004fim.2_Silent_p.E405E	1,1	1			p.E439E	NM_014370	NP_055185			1,1	SRPK3_HUMAN	SRPK3	HGNC	Q9UPE1	SRPK3_HUMAN					12	1349	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		UPI000050571A	439			Protein kinase.		SNV	SRPK3,synonymous_variant,p.=,ENST00000489426,;SRPK3,synonymous_variant,p.=,ENST00000370101,NM_001170760.1,NM_014370.3;SRPK3,synonymous_variant,p.=,ENST00000393786,NM_001170761.1;SRPK3,synonymous_variant,p.=,ENST00000370108,;SRPK3,synonymous_variant,p.=,ENST00000370104,;SRPK3,synonymous_variant,p.=,ENST00000370100,;SRPK3,synonymous_variant,p.=,ENST00000458681,;IDH3G,downstream_gene_variant,,ENST00000370092,NM_174869.2;IDH3G,downstream_gene_variant,,ENST00000370093,;IDH3G,downstream_gene_variant,,ENST00000427365,;IDH3G,downstream_gene_variant,,ENST00000217901,NM_004135.3;IDH3G,downstream_gene_variant,,ENST00000444450,;IDH3G,downstream_gene_variant,,ENST00000454076,;SRPK3,downstream_gene_variant,,ENST00000430541,;IDH3G,downstream_gene_variant,,ENST00000444338,;IDH3G,downstream_gene_variant,,ENST00000497043,;IDH3G,downstream_gene_variant,,ENST00000461215,;IDH3G,downstream_gene_variant,,ENST00000495356,;	uc004fil.2	c.1317A>G	1363/1958	3	3			c.1317A>G						23	SNP	c.(1315-1317)GAA>GAG	55	55			pancreas(2)|lung(1)	3	Broad	serine arginine rich protein-specific kinase 3			153050273		0.692	ENSG00000184343	14929	g.chrX:153050273A>G	cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity	Esophageal Squamous(167;766 3400 32156)		307	Esophageal Squamous(167;766 3400 32156)		307	137.022444	KEEP	22	26	-1	32	52	22	26	-1	138.48652	32	52	0.381356	1	0	0	0	0	0	0	1	0	--	--		0	G			SRPK3_uc004fik.2_Silent_p.E505E|SRPK3_uc010nul.2_Silent_p.E363E|SRPK3_uc004fin.2_Silent_p.E438E|SRPK3_uc004fim.2_Silent_p.E405E	124	GBM-12-1597-TP	p.E439E	A	TCGGCGCCGAATACGGCCCCC	NM_014370	NP_055185	153050273	Q9UPE1	SRPK3_HUMAN	0			12	1349	+	G	G	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		Silent	439			Protein kinase.			
SRPR	0	broad.mit.edu	GRCh37	11	126137085	126137085	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0213-01	TCGA-06-0213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332118.6:c.511G>C	p.Gly171Arg	p.G171R	ENST00000332118	NM_003139.3	171	Ggg/Cgg	0			1			G	G/R	uc001qdh.2	protein_coding	YES	CCDS31717.1			511/1917										0	c.(511-513)GGG>CGG			Low_complexity_(Seg):seg,Pfam_domain:PF04086,hmmpanther:PTHR11564	signal recognition particle receptor				ENSP00000328023		14-Apr									COSM2150821	14-Apr	.		ENST00000332118	Transcript			SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	ENSG00000182934	g.chr11:126137085C>G	11307			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=SRPR_HUMAN&rb=26&re=303&var=G171R	NA	getma.org/?cm=var&var=hg19,11,126137085,C,G&fts=all	G171R	--	--	1																																		SRPR_uc010sbm.1_Missense_Mutation_p.G143R|FOXRED1_uc001qdi.2_5'Flank|FOXRED1_uc010sbn.1_5'Flank|FOXRED1_uc010sbo.1_5'Flank|FOXRED1_uc010sbp.1_5'Flank|FOXRED1_uc010sbq.1_5'Flank|FOXRED1_uc001qdj.2_5'Flank|FOXRED1_uc010sbr.1_5'Flank	1	1		benign(0.315)	p.G171R	NM_003139	NP_003130		tolerated(0.43)	1	SRPR_HUMAN	SRPR	HGNC	P08240	SRPR_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)			4	562	-	all_hematologic(175;0.145)		UPI0000135F5A	171					SNV	SRPR,missense_variant,p.Gly171Arg,ENST00000332118,NM_003139.3;SRPR,missense_variant,p.Gly143Arg,ENST00000532259,NM_001177842.1;FAM118B,downstream_gene_variant,,ENST00000533050,NM_024556.3;FOXRED1,upstream_gene_variant,,ENST00000263578,NM_017547.3;FOXRED1,upstream_gene_variant,,ENST00000532125,;FAM118B,downstream_gene_variant,,ENST00000360194,;FOXRED1,upstream_gene_variant,,ENST00000442061,;FAM118B,downstream_gene_variant,,ENST00000529731,;FOXRED1,upstream_gene_variant,,ENST00000534011,;FOXRED1,upstream_gene_variant,,ENST00000533839,;SRPR,downstream_gene_variant,,ENST00000530680,;FOXRED1,upstream_gene_variant,,ENST00000526366,;SRPR,non_coding_transcript_exon_variant,,ENST00000528744,;FOXRED1,upstream_gene_variant,,ENST00000534315,;FAM118B,downstream_gene_variant,,ENST00000531935,;FOXRED1,upstream_gene_variant,,ENST00000527004,;FOXRED1,upstream_gene_variant,,ENST00000525770,;FOXRED1,upstream_gene_variant,,ENST00000525083,;FOXRED1,upstream_gene_variant,,ENST00000532101,;FOXRED1,upstream_gene_variant,,ENST00000524751,;SRPR,upstream_gene_variant,,ENST00000532268,;SRPR,upstream_gene_variant,,ENST00000527817,;FOXRED1,upstream_gene_variant,,ENST00000526525,;FOXRED1,upstream_gene_variant,,ENST00000529802,;SRPR,upstream_gene_variant,,ENST00000531104,;	uc001qdh.2	c.511G>C	666/3069	3	3			c.511G>C						11	SNP	c.(511-513)GGG>CGG	10	10				0	Broad	signal recognition particle receptor			126137085		0.438	ENSG00000182934	14930	g.chr11:126137085C>G	SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding							319.160137	KEEP	69	58	-1	175	167	69	58	-1	336.863998	175	167	0.278607	1	0	0	0	0	1	0	0	0	--	--		0	G			SRPR_uc010sbm.1_Missense_Mutation_p.G143R|FOXRED1_uc001qdi.2_5'Flank|FOXRED1_uc010sbn.1_5'Flank|FOXRED1_uc010sbo.1_5'Flank|FOXRED1_uc010sbp.1_5'Flank|FOXRED1_uc010sbq.1_5'Flank|FOXRED1_uc001qdj.2_5'Flank|FOXRED1_uc010sbr.1_5'Flank	49	GBM-06-0213-TP	p.G171R	C	TTCTTGGCCCCCTTTTTTTTG	NM_003139	NP_003130	126137085	P08240	SRPR_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)	4	562	-	G	G	all_hematologic(175;0.145)		Missense_Mutation	171						
SRPR	0	broad.mit.edu	GRCh37	11	126134309	126134309	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0750-01	TCGA-06-0750-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332118.6:c.1651G>T	p.Gly551Ter	p.G551*	ENST00000332118	NM_003139.3	551	Gga/Tga	0			1			A	G/*	uc001qdh.2	protein_coding	YES	CCDS31717.1			1651/1917										0	c.(1651-1653)GGA>TGA			Superfamily_domains:SSF52540,SMART_domains:SM00962,SMART_domains:SM00382,Gene3D:3.40.50.300,Pfam_domain:PF00448,hmmpanther:PTHR11564	signal recognition particle receptor				ENSP00000328023		14-Dec									COSM2151942	14-Dec	.		ENST00000332118	Transcript			SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	ENSG00000182934	g.chr11:126134309C>A	11307			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,11,126134309,C,A&fts=all	G551*	--	--	1																																		SRPR_uc010sbm.1_Nonsense_Mutation_p.G523*	1	1			p.G551*	NM_003139	NP_003130			1	SRPR_HUMAN	SRPR	HGNC	P08240	SRPR_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)			12	1702	-	all_hematologic(175;0.145)		UPI0000135F5A	551					SNV	SRPR,stop_gained,p.Gly551Ter,ENST00000332118,NM_003139.3;SRPR,stop_gained,p.Gly523Ter,ENST00000532259,NM_001177842.1;FAM118B,downstream_gene_variant,,ENST00000533050,NM_024556.3;FOXRED1,upstream_gene_variant,,ENST00000263578,NM_017547.3;FOXRED1,upstream_gene_variant,,ENST00000532125,;FAM118B,downstream_gene_variant,,ENST00000360194,;FOXRED1,upstream_gene_variant,,ENST00000442061,;FAM118B,downstream_gene_variant,,ENST00000528985,;FAM118B,downstream_gene_variant,,ENST00000529731,;FOXRED1,upstream_gene_variant,,ENST00000534011,;FOXRED1,upstream_gene_variant,,ENST00000533839,;SRPR,downstream_gene_variant,,ENST00000530680,;FOXRED1,upstream_gene_variant,,ENST00000526366,;SRPR,non_coding_transcript_exon_variant,,ENST00000532268,;FAM118B,downstream_gene_variant,,ENST00000531935,;FOXRED1,upstream_gene_variant,,ENST00000527004,;FOXRED1,upstream_gene_variant,,ENST00000525770,;FOXRED1,upstream_gene_variant,,ENST00000525083,;FOXRED1,upstream_gene_variant,,ENST00000532101,;FOXRED1,upstream_gene_variant,,ENST00000524751,;SRPR,downstream_gene_variant,,ENST00000528744,;SRPR,downstream_gene_variant,,ENST00000527817,;FOXRED1,upstream_gene_variant,,ENST00000526525,;FOXRED1,upstream_gene_variant,,ENST00000529802,;SRPR,downstream_gene_variant,,ENST00000531104,;	uc001qdh.2	c.1651G>T	1806/3069	5	2			c.1651G>T						11	SNP	c.(1651-1653)GGA>TGA	46	46				0	Broad	signal recognition particle receptor			126134309		0.517	ENSG00000182934	14930	g.chr11:126134309C>A	SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding							100.239648	KEEP	24	16	0.4	35	41	24	16	0.4	102.487494	35	41	0.345794	1	0	0	0	0	0	1	0	0	--	--		0	A			SRPR_uc010sbm.1_Nonsense_Mutation_p.G523*	70	GBM-06-0750-TP	p.G551*	C	AAGGCTTCTCCTACAAACAGC	NM_003139	NP_003130	126134309	P08240	SRPR_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)	12	1702	-	A	A	all_hematologic(175;0.145)		Nonsense_Mutation	551						
SRPX	0	broad.mit.edu	GRCh37	X	38009054	38009054	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-14-3476-01	TCGA-14-3476-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378533.3:c.1305T>C	p.Pro435=	p.P435=	ENST00000378533	NM_006307.4	435	ccT/ccC	0			1			G	P	uc004ddy.1	protein_coding	YES	CCDS14245.1			1305/1395										0	c.(1303-1305)CCT>CCC			Pfam_domain:PF13778	sushi-repeat-containing protein, X-linked				ENSP00000367794		10-Oct									COSM3406350,COSM3406351	10-Oct	.		ENST00000378533	Transcript			cell adhesion	cell surface|membrane		ENSG00000101955	g.chrX:38009054A>G	11309			LOW								--	--	1																																		SRPX_uc004ddz.1_Silent_p.P415P|SRPX_uc011mkh.1_Silent_p.P376P|SRPX_uc011mki.1_3'UTR	1,1	1			p.P435P	NM_006307	NP_006298			1,1	SRPX_HUMAN	SRPX	HGNC	P78539	SRPX_HUMAN					10	1391	-			UPI0000135F5C	435					SNV	SRPX,synonymous_variant,p.=,ENST00000378533,NM_006307.4;SRPX,synonymous_variant,p.=,ENST00000544439,NM_001170750.1;SRPX,synonymous_variant,p.=,ENST00000343800,;SRPX,synonymous_variant,p.=,ENST00000432886,NM_001170751.1;SRPX,3_prime_UTR_variant,,ENST00000538295,NM_001170752.1;TM4SF2,intron_variant,,ENST00000465127,;SRPX,non_coding_transcript_exon_variant,,ENST00000479015,;SRPX,non_coding_transcript_exon_variant,,ENST00000461865,;	uc004ddy.1	c.1305T>C	1412/1874	3	3			c.1305T>C						23	SNP	c.(1303-1305)CCT>CCC	61	61				0	Broad	sushi-repeat-containing protein, X-linked			38009054		0.502	ENSG00000101955	14932	g.chrX:38009054A>G	cell adhesion	cell surface|membrane								-2.084807	KEEP	0	2	-1	17	22	0	2	-1	6.506049	17	22	0.05	1	0	0	0	0	0	0	1	0	--	--		0	G			SRPX_uc004ddz.1_Silent_p.P415P|SRPX_uc011mkh.1_Silent_p.P376P|SRPX_uc011mki.1_3'UTR	151	GBM-14-3476-TP	p.P435P	A	ACAGGGCCACAGGCATCACCA	NM_006307	NP_006298	38009054	P78539	SRPX_HUMAN	0			10	1391	-	G	G			Silent	435						
SRPX2	0	broad.mit.edu	GRCh37	X	99925877	99925877	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-2491-01	TCGA-32-2491-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373004.3:c.1291T>C	p.Tyr431His	p.Y431H	ENST00000373004	NM_014467.2	431	Tac/Cac	0			1			C	Y/H	uc004egb.2	protein_coding	YES	CCDS14471.1			1291/1398									ovary(2)	2	c.(1291-1293)TAC>CAC			hmmpanther:PTHR19325:SF93,hmmpanther:PTHR19325,Pfam_domain:PF13778	sushi-repeat-containing protein, X-linked 2				ENSP00000362095		11-Nov									COSM3406697	11-Nov	.		ENST00000373004	Transcript	1		angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	ENSG00000102359	g.chrX:99925877T>C	30668			MODERATE		2.05	medium	getma.org/?cm=msa&ty=f&p=SRPX2_HUMAN&rb=333&re=454&var=Y431H	NA	getma.org/?cm=var&var=hg19,X,99925877,T,C&fts=all	Y431H	--	--	1																																OREG0019890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1	1		possibly_damaging(0.89)	p.Y431H	NM_014467	NP_055282		deleterious(0)	1	SRPX2_HUMAN	SRPX2	HGNC	O60687	SRPX2_HUMAN					11	1771	+			UPI000006CCC6	431					SNV	SRPX2,missense_variant,p.Tyr431His,ENST00000373004,NM_014467.2;SYTL4,downstream_gene_variant,,ENST00000455616,;SYTL4,downstream_gene_variant,,ENST00000372989,NM_080737.2;SYTL4,downstream_gene_variant,,ENST00000454200,;SYTL4,downstream_gene_variant,,ENST00000276141,NM_001174068.1;RP11-524D16__A.3,upstream_gene_variant,,ENST00000568809,;SYTL4,downstream_gene_variant,,ENST00000491602,;	uc004egb.2	c.1291T>C	1719/2138	3	3			c.1291T>C						23	SNP	c.(1291-1293)TAC>CAC	5	5			ovary(2)	2	Broad	sushi-repeat-containing protein, X-linked 2			99925877		0.512	ENSG00000102359	14933	g.chrX:99925877T>C	angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding							129.459033	KEEP	19	30	-1	19	19	19	30	-1	129.545762	19	19	0.539683	1	0	0	0	0	1	0	0	0	--	--		0	C	OREG0019890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		235	GBM-32-2491-TP	p.Y431H	T	CCGAGACCGCTACATGGAACC	NM_014467	NP_055282	99925877	O60687	SRPX2_HUMAN	0			11	1771	+	C	C			Missense_Mutation	431						
SRRD	402055		GRCh37	22	26887547	26887547	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000215917.7:c.929T>C	p.Ile310Thr	p.I310T	ENST00000215917	NM_001013694.2	310	aTt/aCt	0																																																																																																																																																																																																																																												
SRRM1	0	broad.mit.edu	GRCh37	1	24996658	24996658	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01	TCGA-14-1825-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323848.9:c.2252G>A	p.Arg751Gln	p.R751Q	ENST00000323848	NM_005839.3	751	cGa/cAa	0			1			A	R/Q	uc001bjm.2	protein_coding	YES	CCDS255.1			2252/2715									ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3	c.(2251-2253)CGA>CAA			Low_complexity_(Seg):seg,hmmpanther:PTHR23148	serine/arginine repetitive matrix 1				ENSP00000326261		15/17	0.00042		0.000259		0.00197	0.000526			rs201082864,COSM3400630,COSM3400631	15/17	common_variant		ENST00000323848	Transcript			mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	ENSG00000133226	g.chr1:24996658G>A	16638			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=SRRM1_HUMAN&rb=719&re=904&var=R751Q	NA	getma.org/?cm=var&var=hg19,1,24996658,G,A&fts=all	R751Q	--	--	1																																		SRRM1_uc010oel.1_Missense_Mutation_p.R763Q|SRRM1_uc009vri.1_Missense_Mutation_p.R680Q	0,1,1	1		unknown(0)	p.R751Q	NM_005839	NP_005830			0,1,1	SRRM1_HUMAN	SRRM1	HGNC	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	M0QXG5_HUMAN		15	2476	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	UPI000013EBEB	751			Pro-rich.|Ser-rich.		SNV	SRRM1,missense_variant,p.Arg751Gln,ENST00000323848,NM_005839.3;SRRM1,missense_variant,p.Arg763Gln,ENST00000447431,;SRRM1,missense_variant,p.Arg760Gln,ENST00000374389,;SRRM1,downstream_gene_variant,,ENST00000596378,;SRRM1,downstream_gene_variant,,ENST00000537199,;snoU13,upstream_gene_variant,,ENST00000459464,;SRRM1,non_coding_transcript_exon_variant,,ENST00000479034,;SRRM1,downstream_gene_variant,,ENST00000461768,;SRRM1,non_coding_transcript_exon_variant,,ENST00000474843,;SRRM1,downstream_gene_variant,,ENST00000489130,;	uc001bjm.2	c.2252G>A	2567/4011	2	2			c.2252G>A						1	SNP	c.(2251-2253)CGA>CAA	28	28			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3	Broad	serine/arginine repetitive matrix 1			24996658		0.532	ENSG00000133226	14936	g.chr1:24996658G>A	mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	Ovarian(68;897 1494 3282 17478)			Ovarian(68;897 1494 3282 17478)			270.259338	KEEP	49	54	-1	84	65	49	54	-1	272.268336	84	65	0.4	1	0	0	0	0	1	0	0	0	--	--		0	A			SRRM1_uc010oel.1_Missense_Mutation_p.R763Q|SRRM1_uc009vri.1_Missense_Mutation_p.R680Q	148	GBM-14-1825-TP	p.R751Q	G	TCATCCTCCCGATCTGTCTCC	NM_005839	NP_005830	24996658	Q8IYB3	SRRM1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	15	2476	+	A	A		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	Missense_Mutation	751			Pro-rich.|Ser-rich.			
SRRM2	0	broad.mit.edu	GRCh37	16	2812739	2812739	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2638-01	TCGA-32-2638-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301740.8:c.2210C>T	p.Ser737Phe	p.S737F	ENST00000301740	NM_016333.3	737	tCt/tTt	0			1			T	S/F	uc002crk.2	protein_coding	YES	CCDS32373.1			2210/8259									ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4	c.(2209-2211)TCT>TTT			Low_complexity_(Seg):seg,hmmpanther:PTHR32093:SF13,hmmpanther:PTHR32093	splicing coactivator subunit SRm300				ENSP00000301740		15-Nov									COSM1708643	15-Nov	.		ENST00000301740	Transcript				Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	ENSG00000167978	g.chr16:2812739C>T	16639			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=SRRM2_HUMAN&rb=561&re=839&var=S737F	NA	getma.org/?cm=var&var=hg19,16,2812739,C,T&fts=all	S737F	--	--	1																																		SRRM2_uc002crj.1_Missense_Mutation_p.S641F|SRRM2_uc002crl.1_Missense_Mutation_p.S737F|SRRM2_uc010bsu.1_Missense_Mutation_p.S641F	1	1		unknown(0)	p.S737F	NM_016333	NP_057417			1	SRRM2_HUMAN	SRRM2	HGNC	Q9UQ35	SRRM2_HUMAN			I3L4D8_HUMAN,I3L1I8_HUMAN,I3L1C0_HUMAN,I3L182_HUMAN,I3L0N7_HUMAN		11	2759	+			UPI000049DDFC	737			Arg-rich.|Ser-rich.		SNV	SRRM2,missense_variant,p.Ser737Phe,ENST00000301740,NM_016333.3;SRRM2,missense_variant,p.Ser737Phe,ENST00000576924,;SRRM2,missense_variant,p.Ser641Phe,ENST00000571378,;SRRM2,downstream_gene_variant,,ENST00000575009,;SRRM2,downstream_gene_variant,,ENST00000576415,;SRRM2,upstream_gene_variant,,ENST00000574593,;SRRM2,downstream_gene_variant,,ENST00000572278,;SRRM2,downstream_gene_variant,,ENST00000575870,;SRRM2,upstream_gene_variant,,ENST00000576674,;SRRM2,downstream_gene_variant,,ENST00000576894,;SRRM2,downstream_gene_variant,,ENST00000570971,;SRRM2,downstream_gene_variant,,ENST00000572952,;SRRM2,downstream_gene_variant,,ENST00000573498,;SRRM2,downstream_gene_variant,,ENST00000576076,;SRRM2,upstream_gene_variant,,ENST00000572883,;SRRM2,downstream_gene_variant,,ENST00000575701,;SRRM2,downstream_gene_variant,,ENST00000570655,;SRRM2,downstream_gene_variant,,ENST00000571372,;SRRM2,downstream_gene_variant,,ENST00000573451,;	uc002crk.2	c.2210C>T	2759/9353	2	2			c.2210C>T						16	SNP	c.(2209-2211)TCT>TTT	22	22			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4	Broad	splicing coactivator subunit SRm300			2812739		0.448	ENSG00000167978	14937	g.chr16:2812739C>T		Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding							-16.431296	KEEP	3	2	-1	62	54	3	2	-1	10.103313	62	54	0.042373	1	0	0	0	0	1	0	0	0	--	--		0	T			SRRM2_uc002crj.1_Missense_Mutation_p.S641F|SRRM2_uc002crl.1_Missense_Mutation_p.S737F|SRRM2_uc010bsu.1_Missense_Mutation_p.S641F	242	GBM-32-2638-TP	p.S737F	C	TCCAGAACATCTCAAAGAAGA	NM_016333	NP_057417	2812739	Q9UQ35	SRRM2_HUMAN	0			11	2759	+	T	T			Missense_Mutation	737			Arg-rich.|Ser-rich.			
SRRM2	0	broad.mit.edu	GRCh37	16	2812977	2812977	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6282-01	TCGA-76-6282-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301740.8:c.2448C>T	p.Arg816=	p.R816=	ENST00000301740	NM_016333.3	816	cgC/cgT	0			1			T	R	uc002crk.2	protein_coding	YES	CCDS32373.1			2448/8259									ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4	c.(2446-2448)CGC>CGT			Low_complexity_(Seg):seg,hmmpanther:PTHR32093:SF13,hmmpanther:PTHR32093	splicing coactivator subunit SRm300				ENSP00000301740		15-Nov									COSM3402230	15-Nov	.		ENST00000301740	Transcript				Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	ENSG00000167978	g.chr16:2812977C>T	16639			LOW								--	--	1																																		SRRM2_uc002crj.1_Silent_p.R720R|SRRM2_uc002crl.1_Silent_p.R816R|SRRM2_uc010bsu.1_Silent_p.R720R	1	1			p.R816R	NM_016333	NP_057417			1	SRRM2_HUMAN	SRRM2	HGNC	Q9UQ35	SRRM2_HUMAN			I3L4D8_HUMAN,I3L1I8_HUMAN,I3L1C0_HUMAN,I3L182_HUMAN,I3L0N7_HUMAN		11	2997	+			UPI000049DDFC	816			Arg-rich.|Ser-rich.		SNV	SRRM2,synonymous_variant,p.=,ENST00000301740,NM_016333.3;SRRM2,synonymous_variant,p.=,ENST00000576924,;SRRM2,synonymous_variant,p.=,ENST00000571378,;SRRM2,downstream_gene_variant,,ENST00000575009,;SRRM2,downstream_gene_variant,,ENST00000576415,;SRRM2,upstream_gene_variant,,ENST00000574593,;SRRM2,upstream_gene_variant,,ENST00000572721,;SRRM2,downstream_gene_variant,,ENST00000572278,;SRRM2,downstream_gene_variant,,ENST00000575870,;SRRM2,upstream_gene_variant,,ENST00000576674,;SRRM2,downstream_gene_variant,,ENST00000576894,;SRRM2,downstream_gene_variant,,ENST00000570971,;SRRM2,downstream_gene_variant,,ENST00000572952,;SRRM2,downstream_gene_variant,,ENST00000573498,;SRRM2,downstream_gene_variant,,ENST00000576076,;SRRM2,upstream_gene_variant,,ENST00000572883,;SRRM2,downstream_gene_variant,,ENST00000570655,;SRRM2,downstream_gene_variant,,ENST00000571372,;SRRM2,downstream_gene_variant,,ENST00000573451,;	uc002crk.2	c.2448C>T	2997/9353	1	1			c.2448C>T						16	SNP	c.(2446-2448)CGC>CGT	11	11			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4	Broad	splicing coactivator subunit SRm300			2812977		0.498	ENSG00000167978	14937	g.chr16:2812977C>T		Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding							271.011483	KEEP	40	70	-1	116	168	40	70	-1	285.976458	116	168	0.283708	1	0	0	0	0	0	0	1	0	--	--		0	T			SRRM2_uc002crj.1_Silent_p.R720R|SRRM2_uc002crl.1_Silent_p.R816R|SRRM2_uc010bsu.1_Silent_p.R720R	278	GBM-76-6282-TP	p.R816R	C	GACGCAGTCGCTCCAGTTCTT	NM_016333	NP_057417	2812977	Q9UQ35	SRRM2_HUMAN	0			11	2997	+	T	T			Silent	816			Arg-rich.|Ser-rich.			
SRRM2	0	broad.mit.edu	GRCh37	16	2813966	2813966	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-6282-01	TCGA-76-6282-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301740.8:c.3437C>G	p.Pro1146Arg	p.P1146R	ENST00000301740	NM_016333.3	1146	cCt/cGt	0			1			G	P/R	uc002crk.2	protein_coding	YES	CCDS32373.1			3437/8259									ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4	c.(3436-3438)CCT>CGT			hmmpanther:PTHR32093:SF13,hmmpanther:PTHR32093	splicing coactivator subunit SRm300				ENSP00000301740		15-Nov									COSM3402231	15-Nov	.		ENST00000301740	Transcript				Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	ENSG00000167978	g.chr16:2813966C>G	16639			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=SRRM2_HUMAN&rb=841&re=1659&var=P1146R	NA	getma.org/?cm=var&var=hg19,16,2813966,C,G&fts=all	P1146R	--	--	1																																		SRRM2_uc002crj.1_Missense_Mutation_p.P1050R|SRRM2_uc002crl.1_Missense_Mutation_p.P1146R|SRRM2_uc010bsu.1_Missense_Mutation_p.P1050R	1	1		unknown(0)	p.P1146R	NM_016333	NP_057417			1	SRRM2_HUMAN	SRRM2	HGNC	Q9UQ35	SRRM2_HUMAN			I3L4D8_HUMAN,I3L1I8_HUMAN,I3L1C0_HUMAN,I3L182_HUMAN,I3L0N7_HUMAN		11	3986	+			UPI000049DDFC	1146			Ser-rich.		SNV	SRRM2,missense_variant,p.Pro1146Arg,ENST00000301740,NM_016333.3;SRRM2,downstream_gene_variant,,ENST00000576924,;SRRM2,downstream_gene_variant,,ENST00000571378,;SRRM2,downstream_gene_variant,,ENST00000575009,;SRRM2,intron_variant,,ENST00000576674,;SRRM2,upstream_gene_variant,,ENST00000574593,;SRRM2,upstream_gene_variant,,ENST00000572721,;SRRM2,downstream_gene_variant,,ENST00000572278,;SRRM2,downstream_gene_variant,,ENST00000575870,;SRRM2,downstream_gene_variant,,ENST00000576894,;SRRM2,upstream_gene_variant,,ENST00000576878,;SRRM2,downstream_gene_variant,,ENST00000570971,;SRRM2,downstream_gene_variant,,ENST00000572952,;SRRM2,downstream_gene_variant,,ENST00000573498,;SRRM2,downstream_gene_variant,,ENST00000576076,;SRRM2,upstream_gene_variant,,ENST00000572883,;SRRM2,upstream_gene_variant,,ENST00000573311,;SRRM2,upstream_gene_variant,,ENST00000570705,;SRRM2,downstream_gene_variant,,ENST00000570655,;SRRM2,upstream_gene_variant,,ENST00000571041,;SRRM2,downstream_gene_variant,,ENST00000571372,;SRRM2,downstream_gene_variant,,ENST00000573451,;	uc002crk.2	c.3437C>G	3986/9353	4	4			c.3437C>G						16	SNP	c.(3436-3438)CCT>CGT	24	24			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4	Broad	splicing coactivator subunit SRm300			2813966		0.468	ENSG00000167978	14937	g.chr16:2813966C>G		Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding							98.788384	KEEP	16	20	-1	25	47	16	20	-1	101.188025	25	47	0.336634	1	0	0	0	0	1	0	0	0	--	--		0	G			SRRM2_uc002crj.1_Missense_Mutation_p.P1050R|SRRM2_uc002crl.1_Missense_Mutation_p.P1146R|SRRM2_uc010bsu.1_Missense_Mutation_p.P1050R	278	GBM-76-6282-TP	p.P1146R	C	TCTTCATATCCTACAGTGGAC	NM_016333	NP_057417	2813966	Q9UQ35	SRRM2_HUMAN	0			11	3986	+	G	G			Missense_Mutation	1146			Ser-rich.			
SRRM2	23524		GRCh37	16	2812703	2812703	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000301740.8:c.2174G>A	p.Gly725Asp	p.G725D	ENST00000301740	NM_016333.3	725	gGc/gAc	0																																																																																																																																																																																																																																												
SRRM2	23524		GRCh37	16	2812074	2812074	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000301740.8:c.1545G>A	p.Arg515=	p.R515=	ENST00000301740	NM_016333.3	515	agG/agA	0																																																																																																																																																																																																																																												
SRRM4	84530	broad.mit.edu	GRCh37	12	119588965	119588965	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-02-2470-01	TCGA-02-2470-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267260.4:c.1220C>G	p.Ser407Cys	p.S407C	ENST00000267260	NM_194286.3	407	tCc/tGc	0			1			G	S/C	uc001txa.1	protein_coding	YES	CCDS44994.1			1220/1836									ovary(2)	2	c.(1219-1221)TCC>TGC			Low_complexity_(Seg):seg	KIAA1853 protein				ENSP00000267260		13-Oct									COSM3398423,COSM3398422,COSM3398421	13-Oct	.		ENST00000267260	Transcript			cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	ENSG00000139767	g.chr12:119588965C>G	29389			MODERATE		1.65	low	getma.org/?cm=msa&ty=f&p=SRRM4_HUMAN&rb=1&re=543&var=S407C	NA	getma.org/?cm=var&var=hg19,12,119588965,C,G&fts=all	S407C	--	--	1																																			1,1,1	1		possibly_damaging(0.788)	p.S407C	NM_194286	NP_919262		deleterious_low_confidence(0)	1,1,1	SRRM4_HUMAN	SRRM4	HGNC	A7MD48	SRRM4_HUMAN					10	1512	+			UPI00001FBC3F	407			Ser-rich.		SNV	SRRM4,missense_variant,p.Ser407Cys,ENST00000267260,NM_194286.3;	uc001txa.1	c.1220C>G	1608/8477	3	3			c.1220C>G						12	SNP	c.(1219-1221)TCC>TGC	11	11			ovary(2)	2	Broad	KIAA1853 protein			119588965		0.572	ENSG00000139767	14939	g.chr12:119588965C>G	cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding							55.547972	KEEP	13	13	-1	41	44	13	13	-1	62.32447	41	44	0.217391	1	0	0	0	0	1	0	0	0	--	--		0	G				5	GBM-02-2470-TP	p.S407C	C	TCGTCCCGATCCCCAAATCCC	NM_194286	NP_919262	119588965	A7MD48	SRRM4_HUMAN	0			10	1512	+	G	G			Missense_Mutation	407			Ser-rich.			
SRRT	51593	broad.mit.edu	GRCh37	7	100481735	100481736	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0877-01	TCGA-06-0877-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000347433.4:c.634dup	p.Glu212GlyfsTer23	p.E212Gfs*23	ENST00000347433		211	cag/caGg	0			1			G	Q/QX	uc003uwy.2	protein_coding	YES	CCDS34709.1			632-633/2631									ovary(2)	2	c.(631-633)CAGfs			hmmpanther:PTHR13165,hmmpanther:PTHR13165:SF0,Pfam_domain:PF12066	arsenate resistance protein 2 isoform a				ENSP00000314491		20-Jun	0.000148	9.71E-05		0.000116	0.000456	0.000196				20-Jun	common_variant		ENST00000347433	Transcript			cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	ENSG00000087087	g.chr7:100481735_100481736insG	24101	2		HIGH								--	--	1																																		SRRT_uc010lhl.1_Frame_Shift_Ins_p.Q211fs|SRRT_uc003uxa.2_Frame_Shift_Ins_p.Q211fs|SRRT_uc003uwz.2_Frame_Shift_Ins_p.Q211fs		1			p.Q211fs	NM_015908	NP_056992				SRRT_HUMAN	SRRT	HGNC	Q9BXP5	SRRT_HUMAN					7	900_901	+			UPI0000126098	211					insertion	SRRT,frameshift_variant,p.Glu212GlyfsTer23,ENST00000388793,NM_015908.5,NM_001128852.1;SRRT,frameshift_variant,p.Glu212GlyfsTer23,ENST00000457580,NM_001128853.1,NM_001128854.1;SRRT,frameshift_variant,p.Glu212GlyfsTer23,ENST00000347433,;SRRT,frameshift_variant,p.Glu212GlyfsTer23,ENST00000432932,;SRRT,upstream_gene_variant,,ENST00000448764,;UFSP1,downstream_gene_variant,,ENST00000388761,NM_001015072.3;SRRT,downstream_gene_variant,,ENST00000431645,;SRRT,3_prime_UTR_variant,,ENST00000423692,;SRRT,non_coding_transcript_exon_variant,,ENST00000474896,;SRRT,upstream_gene_variant,,ENST00000478693,;SRRT,upstream_gene_variant,,ENST00000460194,;SRRT,upstream_gene_variant,,ENST00000487311,;SRRT,downstream_gene_variant,,ENST00000448716,;SRRT,upstream_gene_variant,,ENST00000477529,;SRRT,upstream_gene_variant,,ENST00000449389,;SRRT,upstream_gene_variant,,ENST00000445337,;SRRT,upstream_gene_variant,,ENST00000466432,;SRRT,upstream_gene_variant,,ENST00000469602,;	uc003uwy.2	c.632_633insG	790-791/2904	5	5			c.632_633insG						7	INS	c.(631-633)CAGfs	35	35			ovary(2)	2	Broad	arsenate resistance protein 2 isoform a			100481736		0.569	ENSG00000087087	14940	g.chr7:100481735_100481736insG	cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding																				0.04	1	0	0	1	1	0	0	0	0	--	--		0	G			SRRT_uc010lhl.1_Frame_Shift_Ins_p.Q211fs|SRRT_uc003uxa.2_Frame_Shift_Ins_p.Q211fs|SRRT_uc003uwz.2_Frame_Shift_Ins_p.Q211fs	73	GBM-06-0877-TP	p.Q211fs	-	AAGCGTCGGCAGGAGGCCCGGG	NM_015908	NP_056992	100481735	Q9BXP5	SRRT_HUMAN	0			7	900_901	+	G	G			Frame_Shift_Ins	211						
SRSF11	0	broad.mit.edu	GRCh37	1	70703140	70703140	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-12-0616-01	TCGA-12-0616-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370950.3:c.623C>G	p.Pro208Arg	p.P208R	ENST00000370950		208	cCa/cGa	0			1			G	P/R	uc001des.2	protein_coding	YES	CCDS647.1			623/1455										0	c.(622-624)CCA>CGA			hmmpanther:PTHR32343,hmmpanther:PTHR32343:SF6	splicing factor, arginine/serine-rich 11				ENSP00000359988		13-Jul									COSM2153565,COSM2153564	13-Jul	.		ENST00000370950	Transcript			mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	ENSG00000116754	g.chr1:70703140C>G	10782			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=SRS11_HUMAN&rb=107&re=306&var=P208R	NA	getma.org/?cm=var&var=hg19,1,70703140,C,G&fts=all	P208R	--	--	1																																		SFRS11_uc001det.2_Missense_Mutation_p.P208R|SFRS11_uc001deu.2_Missense_Mutation_p.P208R|SFRS11_uc001dev.2_Missense_Mutation_p.P18R|SFRS11_uc001dew.2_Missense_Mutation_p.P148R	1,1	1		unknown(0)	p.P208R	NM_004768	NP_004759		deleterious(0)	1,1	SRS11_HUMAN	SRSF11	HGNC	Q05519	SRS11_HUMAN			Q6N079_HUMAN		7	747	+			UPI00001358C5	208					SNV	SRSF11,missense_variant,p.Pro208Arg,ENST00000370950,;SRSF11,missense_variant,p.Pro148Arg,ENST00000370949,;SRSF11,missense_variant,p.Pro208Arg,ENST00000370951,NM_001190987.1,NM_004768.3;SRSF11,missense_variant,p.Pro208Arg,ENST00000405432,;SRSF11,missense_variant,p.Pro208Arg,ENST00000395136,;SRSF11,3_prime_UTR_variant,,ENST00000436161,;SRSF11,non_coding_transcript_exon_variant,,ENST00000484162,;SRSF11,non_coding_transcript_exon_variant,,ENST00000486667,;SRSF11,upstream_gene_variant,,ENST00000463859,;SRSF11,downstream_gene_variant,,ENST00000481648,;SRSF11,downstream_gene_variant,,ENST00000475204,;	uc001des.2	c.623C>G	705/3784	3	3			c.623C>G						1	SNP	c.(622-624)CCA>CGA	56	56				0	Broad	splicing factor, arginine/serine-rich 11			70703140		0.378	ENSG00000116754	13946	g.chr1:70703140C>G	mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding							129.484327	KEEP	18	34	-1	39	48	18	34	-1	131.396267	39	48	0.364407	1	0	0	0	0	1	0	0	0	--	--		0	G			SFRS11_uc001det.2_Missense_Mutation_p.P208R|SFRS11_uc001deu.2_Missense_Mutation_p.P208R|SFRS11_uc001dev.2_Missense_Mutation_p.P18R|SFRS11_uc001dew.2_Missense_Mutation_p.P148R	118	GBM-12-0616-TP	p.P208R	C	CTCGTTTCACCAAGTCTGAAA	NM_004768	NP_004759	70703140	Q05519	SRS11_HUMAN	0			7	747	+	G	G			Missense_Mutation	208						
SRSF11	0	broad.mit.edu	GRCh37	1	70716405	70716405	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-19-5955-01	TCGA-19-5955-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370950.3:c.1372G>T	p.Glu458Ter	p.E458*	ENST00000370950		458	Gaa/Taa	0			1			T	E/*	uc001des.2	protein_coding	YES	CCDS647.1			1372/1455										0	c.(1372-1374)GAA>TAA			hmmpanther:PTHR32343,hmmpanther:PTHR32343:SF6	splicing factor, arginine/serine-rich 11				ENSP00000359988		13/13									COSM3400989,COSM3400988	13/13	.		ENST00000370950	Transcript			mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	ENSG00000116754	g.chr1:70716405G>T	10782			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,70716405,G,T&fts=all	E458*	--	--	1																																		SFRS11_uc001det.2_Nonsense_Mutation_p.E457*|SFRS11_uc001dev.2_Nonsense_Mutation_p.E268*|SFRS11_uc001dew.2_Nonsense_Mutation_p.E398*	1,1	1			p.E458*	NM_004768	NP_004759			1,1	SRS11_HUMAN	SRSF11	HGNC	Q05519	SRS11_HUMAN			Q6N079_HUMAN		13	1496	+			UPI00001358C5	458					SNV	SRSF11,stop_gained,p.Glu458Ter,ENST00000370950,;SRSF11,stop_gained,p.Glu398Ter,ENST00000370949,;SRSF11,stop_gained,p.Glu457Ter,ENST00000370951,NM_001190987.1,NM_004768.3;SRSF11,stop_gained,p.Glu458Ter,ENST00000405432,;SRSF11,downstream_gene_variant,,ENST00000395136,;SRSF11,non_coding_transcript_exon_variant,,ENST00000484162,;SRSF11,non_coding_transcript_exon_variant,,ENST00000461935,;SRSF11,non_coding_transcript_exon_variant,,ENST00000463859,;SRSF11,non_coding_transcript_exon_variant,,ENST00000489188,;SRSF11,non_coding_transcript_exon_variant,,ENST00000460795,;	uc001des.2	c.1372G>T	1454/3784	5	1			c.1372G>T						1	SNP	c.(1372-1374)GAA>TAA	8	8				0	Broad	splicing factor, arginine/serine-rich 11			70716405		0.398	ENSG00000116754	13946	g.chr1:70716405G>T	mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding							26.159075	KEEP	4	12	0.25	38	47	4	12	0.25	36.765908	38	47	0.157895	1	0	0	0	0	0	1	0	0	--	--		0	T			SFRS11_uc001det.2_Nonsense_Mutation_p.E457*|SFRS11_uc001dev.2_Nonsense_Mutation_p.E268*|SFRS11_uc001dew.2_Nonsense_Mutation_p.E398*	175	GBM-19-5955-TP	p.E458*	G	ATGTTCTGTGGAAAAGGGAAC	NM_004768	NP_004759	70716405	Q05519	SRS11_HUMAN	0			13	1496	+	T	T			Nonsense_Mutation	458						
SRSF12	0	broad.mit.edu	GRCh37	6	89808574	89808574	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000452027.2:c.509C>T	p.Pro170Leu	p.P170L	ENST00000452027	NM_080743.4	170	cCa/cTa	0			1			A	P/L	uc003pmy.3	protein_coding	YES	CCDS47459.1			509/786										0	c.(508-510)CCA>CTA			hmmpanther:PTHR23147,hmmpanther:PTHR23147:SF3	serine-arginine repressor protein				ENSP00000414302		5-May									COSM3411330	5-May	.		ENST00000452027	Transcript			assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome	nucleoplasm	nucleotide binding|RNA binding|RS domain binding|unfolded protein binding	ENSG00000154548	g.chr6:89808574G>A	21220			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=SRS12_HUMAN&rb=83&re=261&var=P170L	NA	getma.org/?cm=var&var=hg19,6,89808574,G,A&fts=all	P170L	--	--	1																																			1	1		possibly_damaging(0.908)	p.P170L	NM_080743	NP_542781		deleterious(0)	1	SRS12_HUMAN	SRSF12	HGNC	Q8WXF0	SRS12_HUMAN			B3KVR7_HUMAN		5	703	-			UPI00000721B8	170			Arg/Ser-rich (RS domain).		SNV	SRSF12,missense_variant,p.Pro170Leu,ENST00000452027,NM_080743.4;SRSF12,non_coding_transcript_exon_variant,,ENST00000524221,;SRSF12,downstream_gene_variant,,ENST00000488604,;	uc003pmy.3	c.509C>T	703/3599	2	2			c.509C>T						6	SNP	c.(508-510)CCA>CTA	28	28				0	Broad	serine-arginine repressor protein			89808574		0.453	ENSG00000154548	13949	g.chr6:89808574G>A	assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome	nucleoplasm	nucleotide binding|RNA binding|RS domain binding|unfolded protein binding							795.317997	KEEP	125	139	-1	200	179	125	139	-1	797.773819	200	179	0.429577	1	0	0	0	0	1	0	0	0	--	--		0	A				271	GBM-76-4932-TP	p.P170L	G	ATTCCTTCTTGGAGTTCTTGA	NM_080743	NP_542781	89808574	Q8WXF0	SRS12_HUMAN	0			5	703	-	A	A			Missense_Mutation	170			Arg/Ser-rich (RS domain).			
SRSF2	6427	broad.mit.edu	GRCh37	17	74732284	74732284	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0189-01	TCGA-06-0189-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359995.5:c.625C>A	p.Pro209Thr	p.P209T	ENST00000359995	NM_001195427.1	209	Ccc/Acc	0			1			T	P/T	uc002jsv.2	protein_coding		CCDS11749.1			625/666										0	c.(625-627)CCC>ACC			hmmpanther:PTHR23147,Low_complexity_(Seg):seg	splicing factor, arginine/serine-rich 2				ENSP00000353089		3-Feb									COSM3403244,COSM3403245	3-Feb	.		ENST00000359995	Transcript			mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	ENSG00000161547	g.chr17:74732284G>T	10783			MODERATE		1.975	medium	getma.org/?cm=msa&ty=f&p=SRSF2_HUMAN&rb=87&re=221&var=P209T	NA	getma.org/?cm=var&var=hg19,17,74732284,G,T&fts=all	P209T	--	--	1																																		SFRS2_uc002jsw.1_RNA|SFRS2_uc002jsx.1_RNA|SFRS2_uc002jsy.3_Missense_Mutation_p.P209T|SFRS2_uc010wtg.1_Missense_Mutation_p.P197T|MFSD11_uc002jsz.1_RNA|MFSD11_uc002jta.2_5'UTR|MFSD11_uc002jtb.2_5'Flank|MFSD11_uc010dha.2_5'Flank|MFSD11_uc002jtc.2_5'Flank|MFSD11_uc002jtd.3_5'Flank|MFSD11_uc010dhb.2_5'Flank|MFSD11_uc002jte.2_5'Flank	1,1			unknown(0)	p.P209T	NM_003016	NP_003007		tolerated(0.27)	1,1	SRSF2_HUMAN	SRSF2	HGNC	Q01130	SRSF2_HUMAN			B3KUY1_HUMAN		2	795	-			UPI0000000C2A	209			Arg/Ser-rich (RS domain).		SNV	SRSF2,missense_variant,p.Pro209Thr,ENST00000392485,NM_003016.4;SRSF2,missense_variant,p.Pro209Thr,ENST00000359995,NM_001195427.1;SRSF2,missense_variant,p.Pro197Thr,ENST00000508921,;MFSD11,5_prime_UTR_variant,,ENST00000586622,;RP11-318A15.7,intron_variant,,ENST00000587459,;MFSD11,upstream_gene_variant,,ENST00000588460,NM_001242534.1;MFSD11,upstream_gene_variant,,ENST00000336509,NM_001242533.1,NM_001242535.1,NM_024311.3,NM_001242532.1;MFSD11,upstream_gene_variant,,ENST00000355954,NM_001242536.1,NM_001242537.1;MFSD11,upstream_gene_variant,,ENST00000593181,;MFSD11,upstream_gene_variant,,ENST00000590514,;METTL23,downstream_gene_variant,,ENST00000588783,NM_001080510.3,NM_001206983.1;METTL23,downstream_gene_variant,,ENST00000341249,NM_001206984.1;MFSD11,upstream_gene_variant,,ENST00000590393,;METTL23,downstream_gene_variant,,ENST00000586738,;METTL23,downstream_gene_variant,,ENST00000588822,;METTL23,downstream_gene_variant,,ENST00000590964,NM_001206985.1,NM_001206986.1,NM_001206987.1;METTL23,downstream_gene_variant,,ENST00000588302,;METTL23,downstream_gene_variant,,ENST00000586752,;MFSD11,upstream_gene_variant,,ENST00000587661,;METTL23,downstream_gene_variant,,ENST00000592849,;METTL23,downstream_gene_variant,,ENST00000589977,;METTL23,downstream_gene_variant,,ENST00000588964,;METTL23,downstream_gene_variant,,ENST00000591571,;METTL23,downstream_gene_variant,,ENST00000588563,;MFSD11,upstream_gene_variant,,ENST00000586689,;SRSF2,downstream_gene_variant,,ENST00000358156,;SRSF2,downstream_gene_variant,,ENST00000583836,;METTL23,downstream_gene_variant,,ENST00000586200,;MFSD11,upstream_gene_variant,,ENST00000591864,;MIR636,downstream_gene_variant,,ENST00000384825,;SRSF2,missense_variant,p.Pro209Thr,ENST00000585202,;SRSF2,missense_variant,p.Pro209Thr,ENST00000452355,;SRSF2,non_coding_transcript_exon_variant,,ENST00000582449,;SRSF2,upstream_gene_variant,,ENST00000586778,;MFSD11,upstream_gene_variant,,ENST00000588768,;MFSD11,upstream_gene_variant,,ENST00000588670,;MFSD11,upstream_gene_variant,,ENST00000588031,;SRSF2,upstream_gene_variant,,ENST00000589919,;METTL23,downstream_gene_variant,,ENST00000589581,;SRSF2,upstream_gene_variant,,ENST00000592676,;	uc002jsv.2	c.625C>A	839/1927	2	2			c.625C>A						17	SNP	c.(625-627)CCC>ACC	47	47				0	Broad	splicing factor, arginine/serine-rich 2			74732284		0.537	ENSG00000161547	13954	g.chr17:74732284G>T	mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity							-4.435881	KEEP	12	7	0.631578947	127	112	12	7	0.631578947	37.652659	127	112	0.077922	1	0	0	0	0	1	0	0	0	--	--		0	T			SFRS2_uc002jsw.1_RNA|SFRS2_uc002jsx.1_RNA|SFRS2_uc002jsy.3_Missense_Mutation_p.P209T|SFRS2_uc010wtg.1_Missense_Mutation_p.P197T|MFSD11_uc002jsz.1_RNA|MFSD11_uc002jta.2_5'UTR|MFSD11_uc002jtb.2_5'Flank|MFSD11_uc010dha.2_5'Flank|MFSD11_uc002jtc.2_5'Flank|MFSD11_uc002jtd.3_5'Flank|MFSD11_uc010dhb.2_5'Flank|MFSD11_uc002jte.2_5'Flank	42	GBM-06-0189-TP	p.P209T	G	GACTTGGGGGGACTCTTCGAT	NM_003016	NP_003007	74732284	Q01130	SRSF2_HUMAN	0			2	795	-	T	T			Missense_Mutation	209			Arg/Ser-rich (RS domain).			
SRSF3	0	broad.mit.edu	GRCh37	6	36564707	36564707	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-26-5135-01	TCGA-26-5135-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373715.6:c.168C>T	p.Pro56=	p.P56=	ENST00000373715	NM_003017.4	56	ccC/ccT	0			1			T	P	uc003omj.2	protein_coding	YES	CCDS4823.1			168/495	T		BCL6		follicular lymphoma					0	c.(166-168)CCC>CCT			PROSITE_profiles:PS50102,hmmpanther:PTHR10548,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928	splicing factor, arginine/serine-rich 3				ENSP00000362820		6-Feb									COSM2157059,COSM2157060	6-Feb	.		ENST00000373715	Transcript			mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	ENSG00000112081	g.chr6:36564707C>T	10785			LOW								--	--	1																																		SFRS3_uc003omk.2_RNA|SFRS3_uc011dtp.1_Silent_p.P56P	1,1	1			p.P56P	NM_003017	NP_003008			1,1	SRSF3_HUMAN	SRSF3	HGNC	P84103	SRSF3_HUMAN			B2R6F3_HUMAN		2	339	+			UPI0000004131	56			RRM.		SNV	SRSF3,synonymous_variant,p.=,ENST00000373715,NM_003017.4;SRSF3,synonymous_variant,p.=,ENST00000339436,;SRSF3,synonymous_variant,p.=,ENST00000477442,;	uc003omj.2	c.168C>T	284/4222	2	2			c.168C>T	T		BCL6		follicular lymphoma	6	SNP	c.(166-168)CCC>CCT	42	42				0	Broad	splicing factor, arginine/serine-rich 3			36564707		0.433	ENSG00000112081	13957	g.chr6:36564707C>T	mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding							125.63295	KEEP	27	22	-1	73	56	27	22	-1	132.655418	73	56	0.279503	1	0	0	0	0	0	0	1	0	--	--		0	T			SFRS3_uc003omk.2_RNA|SFRS3_uc011dtp.1_Silent_p.P56P	184	GBM-26-5135-TP	p.P56P	C	TTGAAGATCCCCGAGATGCAG	NM_003017	NP_003008	36564707	P84103	SRSF3_HUMAN	0			2	339	+	T	T			Silent	56			RRM.			
SRSF5	0	broad.mit.edu	GRCh37	14	70237710	70237710	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T			TCGA-87-5896-01	TCGA-87-5896-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394366.2:c.441-2A>T		p.X147_splice	ENST00000394366	NM_001039465.1			0			1			T		uc001xll.2	protein_coding		CCDS32109.1			441/819										0	c.e8-2				splicing factor, arginine/serine-rich 5				ENSP00000377892			0.000156	9.66E-05		0.000116	0.000306	0.000121			rs748359572,COSM3747959		.		ENST00000394366	Transcript			mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding	ENSG00000100650	g.chr14:70237710A>T	10787			HIGH	7-Jun							--	--	1																																		SFRS5_uc001xlm.2_Splice_Site|SFRS5_uc001xlo.2_Splice_Site_p.G147_splice|SFRS5_uc001xlp.2_Splice_Site_p.G147_splice|SFRS5_uc001xlq.2_Splice_Site_p.G144_splice	0,1				p.G147_splice	NM_006925	NP_008856			0,1	SRSF5_HUMAN	SRSF5	HGNC	Q13243	SRSF5_HUMAN		all cancers(60;0.00144)|BRCA - Breast invasive adenocarcinoma(234;0.0132)|OV - Ovarian serous cystadenocarcinoma(108;0.0154)	Q86U32_HUMAN,G3V5K8_HUMAN		8	1892	+			UPI00001358C0						SNV	SRSF5,splice_acceptor_variant,,ENST00000553521,;SRSF5,splice_acceptor_variant,,ENST00000394366,NM_001039465.1;SRSF5,splice_acceptor_variant,,ENST00000557154,NM_006925.3;SRSF5,splice_acceptor_variant,,ENST00000553635,;SLC10A1,downstream_gene_variant,,ENST00000216540,NM_003049.3;SRSF5,downstream_gene_variant,,ENST00000451983,;SRSF5,downstream_gene_variant,,ENST00000553369,;SRSF5,downstream_gene_variant,,ENST00000554021,;SRSF5,downstream_gene_variant,,ENST00000555349,;SRSF5,downstream_gene_variant,,ENST00000553548,;SRSF5,splice_acceptor_variant,,ENST00000556587,;SRSF5,splice_acceptor_variant,,ENST00000556647,;SRSF5,splice_acceptor_variant,,ENST00000554465,;SRSF5,splice_acceptor_variant,,ENST00000556184,;SRSF5,splice_acceptor_variant,,ENST00000555547,;SRSF5,splice_acceptor_variant,,ENST00000557460,;SRSF5,splice_acceptor_variant,,ENST00000556330,;SRSF5,non_coding_transcript_exon_variant,,ENST00000554929,;SRSF5,downstream_gene_variant,,ENST00000557435,;SRSF5,downstream_gene_variant,,ENST00000556436,;SRSF5,downstream_gene_variant,,ENST00000555412,;	uc001xll.2	c.441_splice	-/1638	5	1			c.441_splice						14	SNP	c.e8-2	5	5				0	Broad	splicing factor, arginine/serine-rich 5			70237710		0.348	ENSG00000100650	13959	g.chr14:70237710A>T	mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding							-0.418095	KEEP	6	3	-1	32	16	6	3	-1	6.361921	32	16	0.125	1	0	0	0	0	0	0	0	1	--	--		0	T			SFRS5_uc001xlm.2_Splice_Site|SFRS5_uc001xlo.2_Splice_Site_p.G147_splice|SFRS5_uc001xlp.2_Splice_Site_p.G147_splice|SFRS5_uc001xlq.2_Splice_Site_p.G144_splice	291	GBM-87-5896-TP	p.G147_splice	A	TTTCCATTTTAGGGTGGTTGA	NM_006925	NP_008856	70237710	Q13243	SRSF5_HUMAN	0		all cancers(60;0.00144)|BRCA - Breast invasive adenocarcinoma(234;0.0132)|OV - Ovarian serous cystadenocarcinoma(108;0.0154)	8	1892	+	T	T			Splice_Site							
SRXN1	140809	broad.mit.edu	GRCh37	20	629466	629466	+	synonymous_variant	Silent	SNP	G	G	A	rs140166119		TCGA-06-0743-01	TCGA-06-0743-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381962.3:c.306C>T	p.Tyr102=	p.Y102=	ENST00000381962	NM_080725.2	102	taC/taT	0	A:0		1			A	Y	uc002wea.2	protein_coding	YES	CCDS13005.1			306/414									ovary(1)	1	c.(304-306)TAC>TAT			Gene3D:3.90.1530.10,Pfam_domain:PF02195,PIRSF_domain:PIRSF017267,hmmpanther:PTHR21348,SMART_domains:SM00470,Superfamily_domains:SSF110849	sulfiredoxin 1 homolog			A:0.0001	ENSP00000371388		2-Feb	8.24E-06					1.51E-05			rs140166119,COSM3405295	2-Feb	.		ENST00000381962	Transcript			response to oxidative stress	cytosol	antioxidant activity|ATP binding|DNA binding|sulfiredoxin activity	ENSG00000271303	g.chr20:629466G>A	16132			LOW								--	--	1																																		SRXN1_uc002web.2_RNA	0,1	1			p.Y102Y	NM_080725	NP_542763			0,1	SRXN1_HUMAN	SRXN1	HGNC	Q9BYN0	SRXN1_HUMAN					2	367	-			UPI000000DC3B	102					SNV	SRXN1,synonymous_variant,p.=,ENST00000381962,NM_080725.2;RP5-850E9.3,3_prime_UTR_variant,,ENST00000488788,;	uc002wea.2	c.306C>T	491/2698	1	1			c.306C>T						20	SNP	c.(304-306)TAC>TAT	64	64			ovary(1)	1	Broad	sulfiredoxin 1 homolog			629466		0.617	ENSG00000271303	14941	g.chr20:629466G>A	response to oxidative stress	cytosol	antioxidant activity|ATP binding|DNA binding|sulfiredoxin activity							223.432661	KEEP	38	40	-1	27	38	38	40	-1	223.674763	27	38	0.545455	1	0	0	0	0	0	0	1	0	--	--		0	A			SRXN1_uc002web.2_RNA	65	GBM-06-0743-TP	p.Y102Y	G	GGTAGGCCGCGTAGCGGTGGC	NM_080725	NP_542763	629466	Q9BYN0	SRXN1_HUMAN	0			2	367	-	A	A			Silent	102						
SS18	6760	broad.mit.edu	GRCh37	18	23618584	23618584	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000415083.2:c.815G>A	p.Gly272Glu	p.G272E	ENST00000415083	NM_001007559.1	272	gGg/gAg	0			1			T	G/E	uc002kvm.2	protein_coding	YES	CCDS32807.1			815/1257	T		SSX1| SSX2		synovial sarcoma		SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12)		soft_tissue(1883)|ovary(1)	1884	c.(814-816)GGG>GAG			hmmpanther:PTHR23107:SF2,hmmpanther:PTHR23107	synovial sarcoma translocation, chromosome 18				ENSP00000414516		11-Jul									COSM2149707	11-Jul	.		ENST00000415083	Transcript	1		positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	ENSG00000141380	g.chr18:23618584C>T	11340			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=SSXT_HUMAN&rb=77&re=276&var=G272E	NA	getma.org/?cm=var&var=hg19,18,23618584,C,T&fts=all	G272E	--	--	1																																		SS18_uc002kvn.2_Missense_Mutation_p.G272E|SS18_uc010xbf.1_Missense_Mutation_p.G190E|SS18_uc010xbg.1_Missense_Mutation_p.G220E|SS18_uc010xbh.1_Missense_Mutation_p.G220E|SS18_uc010xbi.1_Missense_Mutation_p.G249E|SS18_uc010dlz.1_Missense_Mutation_p.G220E	1	1		possibly_damaging(0.686)	p.G272E	NM_001007559	NP_001007560		deleterious_low_confidence(0)	1	SSXT_HUMAN	SS18	HGNC	Q15532	SSXT_HUMAN			J3QQX5_HUMAN,J3QLJ7_HUMAN,J3KT22_HUMAN,B4DR34_HUMAN,B4DLD3_HUMAN		7	893	-	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)		UPI0000136056	272			Gln-rich.		SNV	SS18,missense_variant,p.Gly272Glu,ENST00000415083,NM_001007559.1,NM_005637.2;SS18,missense_variant,p.Gly249Glu,ENST00000542420,;SS18,missense_variant,p.Gly272Glu,ENST00000269137,;SS18,missense_variant,p.Gly220Glu,ENST00000542743,;SS18,missense_variant,p.Gly190Glu,ENST00000539849,;SS18,missense_variant,p.Gly220Glu,ENST00000545952,;SS18,downstream_gene_variant,,ENST00000585241,;SS18,upstream_gene_variant,,ENST00000582092,;SS18,3_prime_UTR_variant,,ENST00000579640,;SS18,3_prime_UTR_variant,,ENST00000269138,;SS18,3_prime_UTR_variant,,ENST00000585121,;SS18,3_prime_UTR_variant,,ENST00000539244,;SS18,upstream_gene_variant,,ENST00000580958,;	uc002kvm.2	c.815G>A	871/3053	2	2			c.815G>A	T		SSX1| SSX2		synovial sarcoma	18	SNP	c.(814-816)GGG>GAG	45	45	SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12)		soft_tissue(1883)|ovary(1)	1884	Broad	synovial sarcoma translocation, chromosome 18			23618584		0.438	ENSG00000141380	14943	g.chr18:23618584C>T	positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding			177			177	169.422177	KEEP	31	31	-1	62	65	31	31	-1	173.812898	62	65	0.331429	1	0	0	0	0	1	0	0	0	--	--		0	T			SS18_uc002kvn.2_Missense_Mutation_p.G272E|SS18_uc010xbf.1_Missense_Mutation_p.G190E|SS18_uc010xbg.1_Missense_Mutation_p.G220E|SS18_uc010xbh.1_Missense_Mutation_p.G220E|SS18_uc010xbi.1_Missense_Mutation_p.G249E|SS18_uc010dlz.1_Missense_Mutation_p.G220E	23	GBM-06-0145-TP	p.G272E	C	GTATTGGTCCCCGTAATAGTC	NM_001007559	NP_001007560	23618584	Q15532	SSXT_HUMAN	0			7	893	-	T	T	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)		Missense_Mutation	272			Gln-rich.			
SSH1	0	broad.mit.edu	GRCh37	12	109212060	109212060	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-16-1045-01	TCGA-16-1045-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326495.5:c.244A>T	p.Ile82Phe	p.I82F	ENST00000326495	NM_018984.3	82	Atc/Ttc	0			1			A	I/F	uc001tnm.2	protein_coding	YES	CCDS9121.1			244/3150									ovary(4)	4	c.(244-246)ATC>TTC			hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF138	slingshot 1 isoform 1				ENSP00000315713		15-Apr									COSM3398309,COSM3398310	15-Apr	.		ENST00000326495	Transcript			actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000084112	g.chr12:109212060T>A	30579			MODERATE		-0.55	neutral	getma.org/?cm=msa&ty=f&p=SSH1_HUMAN&rb=1&re=200&var=I82F	NA	getma.org/?cm=var&var=hg19,12,109212060,T,A&fts=all	I82F	--	--	1																																		SSH1_uc010sxg.1_Missense_Mutation_p.I93F|SSH1_uc001tnn.3_Missense_Mutation_p.I82F|SSH1_uc001tno.1_5'Flank	1,1	1		benign(0.05)	p.I82F	NM_018984	NP_061857		tolerated(0.3)	1,1	SSH1_HUMAN	SSH1	HGNC	Q8WYL5	SSH1_HUMAN					4	331	-			UPI000003E894	82					SNV	SSH1,missense_variant,p.Ile82Phe,ENST00000326495,NM_018984.3;SSH1,missense_variant,p.Ile93Phe,ENST00000326470,NM_001161331.1;SSH1,missense_variant,p.Ile82Phe,ENST00000551165,NM_001161330.1;SSH1,missense_variant,p.Ile66Phe,ENST00000546697,;SSH1,5_prime_UTR_variant,,ENST00000360239,;SSH1,intron_variant,,ENST00000546812,;SSH1,3_prime_UTR_variant,,ENST00000548522,;SSH1,upstream_gene_variant,,ENST00000547862,;	uc001tnm.2	c.244A>T	338/8538	1	1			c.244A>T						12	SNP	c.(244-246)ATC>TTC	61	61			ovary(4)	4	Broad	slingshot 1 isoform 1			109212060		0.338	ENSG00000084112	14952	g.chr12:109212060T>A	actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity							79.441366	KEEP	26	19	-1	118	142	26	19	-1	107.409939	118	142	0.15873	1	0	0	0	0	1	0	0	0	--	--		0	A			SSH1_uc010sxg.1_Missense_Mutation_p.I93F|SSH1_uc001tnn.3_Missense_Mutation_p.I82F|SSH1_uc001tno.1_5'Flank	157	GBM-16-1045-TP	p.I82F	T	AGAAGGTTGATCATCACCTGA	NM_018984	NP_061857	109212060	Q8WYL5	SSH1_HUMAN	0			4	331	-	A	A			Missense_Mutation	82						
SSH1	54434		GRCh37	12	109194640	109194640	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000326495.5:c.1064A>G	p.Tyr355Cys	p.Y355C	ENST00000326495	NM_018984.3	355	tAt/tGt	0																																																																																																																																																																																																																																												
SSH2	0	broad.mit.edu	GRCh37	17	27977712	27977712	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-12-1597-01	TCGA-12-1597-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269033.3:c.1105G>T	p.Ala369Ser	p.A369S	ENST00000269033	NM_033389.2	369	Gcg/Tcg	0			1			A	A/S	uc002heo.1	protein_coding	YES	CCDS11253.1			1105/4272									skin(2)	2	c.(1105-1107)GCG>TCG			Gene3D:3.90.190.10,Pfam_domain:PF00782,PROSITE_profiles:PS50054,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF106,SMART_domains:SM00195,Superfamily_domains:SSF52799	slingshot 2				ENSP00000269033		15-Dec									COSM3402713	15-Dec	.		ENST00000269033	Transcript			actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000141298	g.chr17:27977712C>A	30580			MODERATE		-0.06	neutral	getma.org/?cm=msa&ty=f&p=SSH2_HUMAN&rb=315&re=445&var=A369S	getma.org/pdb.php?prot=SSH2_HUMAN&from=315&to=445&var=A369S	getma.org/?cm=var&var=hg19,17,27977712,C,A&fts=all	A369S	--	--	1																																		SSH2_uc010wbh.1_Missense_Mutation_p.A396S|SSH2_uc002hep.1_Missense_Mutation_p.A369S	1	1		probably_damaging(0.976)	p.A369S	NM_033389	NP_203747		deleterious(0.05)	1	SSH2_HUMAN	SSH2	HGNC	Q76I76	SSH2_HUMAN			J3KSQ9_HUMAN		12	1105	-			UPI00001D6272	369			Tyrosine-protein phosphatase.		SNV	SSH2,missense_variant,p.Ala369Ser,ENST00000269033,NM_033389.2,NM_001282129.1;SSH2,missense_variant,p.Ala396Ser,ENST00000540801,;RP11-68I3.2,intron_variant,,ENST00000581474,;RP11-68I3.11,upstream_gene_variant,,ENST00000582881,;SSH2,non_coding_transcript_exon_variant,,ENST00000394848,;	uc002heo.1	c.1105G>T	1257/9327	2	2			c.1105G>T						17	SNP	c.(1105-1107)GCG>TCG	25	25			skin(2)	2	Broad	slingshot 2			27977712		0.428	ENSG00000141298	14953	g.chr17:27977712C>A	actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity							21.328694	KEEP	5	13	0.722222222	88	61	5	13	0.722222222	44.559667	88	61	0.113924	1	0	0	0	0	1	0	0	0	--	--		0	A			SSH2_uc010wbh.1_Missense_Mutation_p.A396S|SSH2_uc002hep.1_Missense_Mutation_p.A369S	124	GBM-12-1597-TP	p.A369S	C	TTCCAGTACGCCAGGAGATCC	NM_033389	NP_203747	27977712	Q76I76	SSH2_HUMAN	0			12	1105	-	A	A			Missense_Mutation	369			Tyrosine-protein phosphatase.			
SSPO	23145	broad.mit.edu	GRCh37	7	149508065	149508065	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	C			TCGA-06-0195-01	TCGA-06-0195-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378016.2:n.9459G>C		p.*3153*	ENST00000378016				0			1			C		uc010lpk.2	processed_transcript	YES														0	c.(9457-9459)CCG>CCC				SCO-spondin precursor						66/109										66/109	.		ENST00000378016	Transcript			cell adhesion	extracellular space	peptidase inhibitor activity	ENSG00000197558	g.chr7:149508065G>C	21998			MODIFIER								--	--	1																																				1			p.P3153P	NM_198455	NP_940857					SSPO	HGNC	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)				67	9459	+	Melanoma(164;0.165)|Ovarian(565;0.177)			3153					SNV	SSPO,non_coding_transcript_exon_variant,,ENST00000378016,;SSPO,non_coding_transcript_exon_variant,,ENST00000481772,;SSPO,downstream_gene_variant,,ENST00000484709,;SSPO,upstream_gene_variant,,ENST00000478854,;	uc010lpk.2	c.9459G>C	9459/15583	3	3			c.9459G>C						7	SNP	c.(9457-9459)CCG>CCC	51	51				0	Broad	SCO-spondin precursor			149508065		0.602	ENSG00000197558	14957	g.chr7:149508065G>C	cell adhesion	extracellular space	peptidase inhibitor activity							35.846226	KEEP	12	8	-1	41	45	12	8	-1	44.831214	41	45	0.180851	1	0	0	0	0	0	0	1	0	--	--		0	C				45	GBM-06-0195-TP	p.P3153P	G	TCTACCCCCCGGGCAGCACTG	NM_198455	NP_940857	149508065	A2VEC9	SSPO_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		67	9459	+	C	C	Melanoma(164;0.165)|Ovarian(565;0.177)		Silent	3153						
SSPO	23145	broad.mit.edu	GRCh37	7	149493793	149493793	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A			TCGA-06-5413-01	TCGA-06-5413-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378016.2:n.6789G>A		p.*2263*	ENST00000378016				0			1			A		uc010lpk.2	processed_transcript	YES														0	c.(6787-6789)TCG>TCA				SCO-spondin precursor						45/109										45/109	.		ENST00000378016	Transcript			cell adhesion	extracellular space	peptidase inhibitor activity	ENSG00000197558	g.chr7:149493793G>A	21998			MODIFIER								--	--	1																																				1			p.S2263S	NM_198455	NP_940857					SSPO	HGNC	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)				46	6789	+	Melanoma(164;0.165)|Ovarian(565;0.177)			2263			LDL-receptor class A 8.		SNV	SSPO,non_coding_transcript_exon_variant,,ENST00000378016,;SSPO,non_coding_transcript_exon_variant,,ENST00000472797,;SSPO,downstream_gene_variant,,ENST00000262089,;SSPO,non_coding_transcript_exon_variant,,ENST00000475488,;	uc010lpk.2	c.6789G>A	6789/15583	2	2			c.6789G>A						7	SNP	c.(6787-6789)TCG>TCA	30	30				0	Broad	SCO-spondin precursor			149493793		0.652	ENSG00000197558	14957	g.chr7:149493793G>A	cell adhesion	extracellular space	peptidase inhibitor activity							19.010095	KEEP	4	5	-1	10	17	4	5	-1	21.149322	10	17	0.225806	1	0	0	0	0	0	0	1	0	--	--		0	A				96	GBM-06-5413-TP	p.S2263S	G	AGGATGGCTCGGATGAGGAGG	NM_198455	NP_940857	149493793	A2VEC9	SSPO_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		46	6789	+	A	A	Melanoma(164;0.165)|Ovarian(565;0.177)		Silent	2263			LDL-receptor class A 8.			
SSPO	23145	broad.mit.edu	GRCh37	7	149509076	149509076	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	rs139588484	by1000genomes	TCGA-06-5859-01	TCGA-06-5859-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378016.2:n.9622C>T		p.*3208*	ENST00000378016				0		T:0	1	T:0.0014		T		uc010lpk.2	processed_transcript	YES														0	c.(9622-9624)CGG>TGG				SCO-spondin precursor		T:0			T:0.002	68/109	8.28E-05		0.000522			4.64E-05		6.11E-05	rs139588484	68/109	common_variant		ENST00000378016	Transcript		T:0.0006	cell adhesion	extracellular space	peptidase inhibitor activity	ENSG00000197558	g.chr7:149509076C>T	21998			MODIFIER								--	--	1																																				1			p.R3208W	NM_198455	NP_940857	T:0				SSPO	HGNC	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)				69	9622	+	Melanoma(164;0.165)|Ovarian(565;0.177)			3208			TSP type-1 11.		SNV	SSPO,non_coding_transcript_exon_variant,,ENST00000378016,;SSPO,intron_variant,,ENST00000481772,;SSPO,upstream_gene_variant,,ENST00000478854,;	uc010lpk.2	c.9622C>T	9622/15583	1	1			c.9622C>T						7	SNP	c.(9622-9624)CGG>TGG	13	13				0	Broad	SCO-spondin precursor			149509076		0.687	ENSG00000197558	14957	g.chr7:149509076C>T	cell adhesion	extracellular space	peptidase inhibitor activity							53.658901	KEEP	6	15	-1	35	40	6	15	-1	60.056904	35	40	0.225806	1	0	0	0	0	1	0	0	0	--	--		0	T				103	GBM-06-5859-TP	p.R3208W	C	CCATCGGCACCGGTTCTGTGC	NM_198455	NP_940857	149509076	A2VEC9	SSPO_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		69	9622	+	T	T	Melanoma(164;0.165)|Ovarian(565;0.177)		Missense_Mutation	3208			TSP type-1 11.			
SSPO	0	broad.mit.edu	GRCh37	7	149493732	149493732	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T			TCGA-14-0787-01	TCGA-14-0787-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378016.2:n.6728G>T		*2243*	ENST00000378016				0			1			T		uc010lpk.2	processed_transcript	YES														0	c.(6727-6729)AGT>ATT				SCO-spondin precursor						45/109										45/109	.		ENST00000378016	Transcript			cell adhesion	extracellular space	peptidase inhibitor activity	ENSG00000197558	g.chr7:149493732G>T	21998			MODIFIER								--	--	1																																				1			p.S2243I	NM_198455	NP_940857					SSPO	HGNC	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)				46	6728	+	Melanoma(164;0.165)|Ovarian(565;0.177)			2243			LDL-receptor class A 8.		SNV	SSPO,non_coding_transcript_exon_variant,,ENST00000378016,;SSPO,non_coding_transcript_exon_variant,,ENST00000472797,;SSPO,downstream_gene_variant,,ENST00000262089,;SSPO,non_coding_transcript_exon_variant,,ENST00000475488,;	uc010lpk.2	c.6728G>T	6728/15583	2	2			c.6728G>T						7	SNP	c.(6727-6729)AGT>ATT	30	30				0	Broad	SCO-spondin precursor			149493732		0.652	ENSG00000197558	14957	g.chr7:149493732G>T	cell adhesion	extracellular space	peptidase inhibitor activity							22.96117	KEEP	5	4	0.555555556	14	15	5	4	0.555555556	25.004096	14	15	0.25	1	0	0	0	0	1	0	0	0	--	--		0	T				135	GBM-14-0787-TP	p.S2243I	G	CGCTGTGCCAGTGGTGAGTGT	NM_198455	NP_940857	149493732	A2VEC9	SSPO_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		46	6728	+	T	T	Melanoma(164;0.165)|Ovarian(565;0.177)		Missense_Mutation	2243			LDL-receptor class A 8.			
SSPO	0	broad.mit.edu	GRCh37	7	149502623	149502623	+	non_coding_transcript_exon_variant	RNA	DEL	C	C	-			TCGA-14-0817-01	TCGA-14-0817-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378016.2:n.8438delC		*2813*	ENST00000378016				0			1			-		uc010lpk.2	processed_transcript	YES														0	c.(8434-8436)TGCfs				SCO-spondin precursor						57/109										57/109	.		ENST00000378016	Transcript			cell adhesion	extracellular space	peptidase inhibitor activity	ENSG00000197558	g.chr7:149502623delC	21998	2		MODIFIER								--	--	1																																				1			p.C2812fs	NM_198455	NP_940857					SSPO	HGNC	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)				58	8436	+	Melanoma(164;0.165)|Ovarian(565;0.177)			2812			TSP type-1 7.		deletion	SSPO,non_coding_transcript_exon_variant,,ENST00000378016,;SSPO,non_coding_transcript_exon_variant,,ENST00000484709,;	uc010lpk.2	c.8436delC	8436/15583	5	5			c.8436delC						7	DEL	c.(8434-8436)TGCfs	17	17				0	Broad	SCO-spondin precursor			149502623		0.682	ENSG00000197558	14957	g.chr7:149502623delC	cell adhesion	extracellular space	peptidase inhibitor activity																				0.21	1	1	0	1	0	0	0	0	0	--	--		0	-				139	GBM-14-0817-TP	p.C2812fs	C	ATTCATCCTGCCCAGGAGATG	NM_198455	NP_940857	149502623	A2VEC9	SSPO_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		58	8436	+	-	-	Melanoma(164;0.165)|Ovarian(565;0.177)		Frame_Shift_Del	2812			TSP type-1 7.			
SSPO	0	broad.mit.edu	GRCh37	7	149477563	149477563	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A			TCGA-19-2629-01	TCGA-19-2629-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378016.2:n.1634C>A		*545*	ENST00000378016				0			1			A		uc010lpk.2	processed_transcript	YES														0	c.(1633-1635)CCC>CAC				SCO-spondin precursor						12/109										12/109	.		ENST00000378016	Transcript			cell adhesion	extracellular space	peptidase inhibitor activity	ENSG00000197558	g.chr7:149477563C>A	21998			MODIFIER								--	--	1																																		SSPO_uc010lpl.1_Intron		1			p.P545H	NM_198455	NP_940857					SSPO	HGNC	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)				12	1634	+	Melanoma(164;0.165)|Ovarian(565;0.177)			545					SNV	SSPO,non_coding_transcript_exon_variant,,ENST00000378016,;SSPO,non_coding_transcript_exon_variant,,ENST00000262089,;SSPO,intron_variant,,ENST00000486824,;SSPO,upstream_gene_variant,,ENST00000477518,;SSPO,downstream_gene_variant,,ENST00000465080,;SSPO,upstream_gene_variant,,ENST00000493502,;	uc010lpk.2	c.1634C>A	1634/15583	2	2			c.1634C>A						7	SNP	c.(1633-1635)CCC>CAC	48	48				0	Broad	SCO-spondin precursor			149477563		0.627	ENSG00000197558	14957	g.chr7:149477563C>A	cell adhesion	extracellular space	peptidase inhibitor activity							5.040771	KEEP	2	3	0.6	20	20	2	3	0.6	10.792546	20	20	0.121951	1	0	0	0	0	1	0	0	0	--	--		0	A			SSPO_uc010lpl.1_Intron	166	GBM-19-2629-TP	p.P545H	C	CTGTGTAACCCCTGGTGGGTC	NM_198455	NP_940857	149477563	A2VEC9	SSPO_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		12	1634	+	A	A	Melanoma(164;0.165)|Ovarian(565;0.177)		Missense_Mutation	545						
SSPO	0	broad.mit.edu	GRCh37	7	149489760	149489760	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	C			TCGA-32-1979-01	TCGA-32-1979-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378016.2:n.5816A>C		*1939*	ENST00000378016				0			1			C		uc010lpk.2	processed_transcript	YES														0	c.(5815-5817)AAC>ACC				SCO-spondin precursor						38/109	0.000224		9.19E-05	0.000123	0.00137	0.000215		6.35E-05	rs758515105	38/109	common_variant		ENST00000378016	Transcript			cell adhesion	extracellular space	peptidase inhibitor activity	ENSG00000197558	g.chr7:149489760A>C	21998			MODIFIER								--	--	1																																				1			p.N1939T	NM_198455	NP_940857					SSPO	HGNC	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)				39	5816	+	Melanoma(164;0.165)|Ovarian(565;0.177)			1939			TSP type-1 3.		SNV	SSPO,non_coding_transcript_exon_variant,,ENST00000378016,;SSPO,non_coding_transcript_exon_variant,,ENST00000262089,;SSPO,upstream_gene_variant,,ENST00000472797,;SSPO,non_coding_transcript_exon_variant,,ENST00000475488,;	uc010lpk.2	c.5816A>C	5816/15583	3	3			c.5816A>C						7	SNP	c.(5815-5817)AAC>ACC	54	54				0	Broad	SCO-spondin precursor			149489760		0.692	ENSG00000197558	14957	g.chr7:149489760A>C	cell adhesion	extracellular space	peptidase inhibitor activity							2.624869	KEEP	5	7	-1	21	27	5	7	-1	7.165869	21	27	0.153846	1	0	0	0	0	1	0	0	0	--	--		0	C				230	GBM-32-1979-TP	p.N1939T	A	AGCTCCAACAACCCCCGCCCC	NM_198455	NP_940857	149489760	A2VEC9	SSPO_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		39	5816	+	C	C	Melanoma(164;0.165)|Ovarian(565;0.177)		Missense_Mutation	1939			TSP type-1 3.			
SSR2	0	broad.mit.edu	GRCh37	1	155989853	155989853	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-19-2629-01	TCGA-19-2629-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295702.4:c.106G>T	p.Glu36Ter	p.E36*	ENST00000295702	NM_003145.3	36	Gag/Tag	0			1			A	E/*	uc001fmx.2	protein_coding	YES	CCDS1126.1			106/552										0	c.(106-108)GAG>TAG			hmmpanther:PTHR12861,Pfam_domain:PF05753,PIRSF_domain:PIRSF016400	signal sequence receptor, beta precursor				ENSP00000295702		6-Feb									COSM2156283	6-Feb	.		ENST00000295702	Transcript			cotranslational protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	signal sequence binding	ENSG00000163479	g.chr1:155989853C>A	11324			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,155989853,C,A&fts=all	E36*	--	--	1																																		SSR2_uc001fmw.2_RNA|SSR2_uc001fmy.2_RNA|SSR2_uc010pgv.1_Nonsense_Mutation_p.E55*|SSR2_uc010pgw.1_Nonsense_Mutation_p.E55*	1	1			p.E36*	NM_003145	NP_003136			1	SSRB_HUMAN	SSR2	HGNC	P43308	SSRB_HUMAN			E9PQI4_HUMAN,E9PQ05_HUMAN,B4DUJ9_HUMAN		2	186	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		UPI0000136002	36			Lumenal (Potential).		SNV	SSR2,stop_gained,p.Glu36Ter,ENST00000295702,NM_003145.3;SSR2,stop_gained,p.Glu36Ter,ENST00000480567,;SSR2,stop_gained,p.Glu36Ter,ENST00000529008,;SSR2,stop_gained,p.Glu36Ter,ENST00000496742,;SSR2,stop_gained,p.Glu36Ter,ENST00000531917,;SSR2,stop_gained,p.Glu66Ter,ENST00000526212,;SSR2,stop_gained,p.Glu36Ter,ENST00000473699,;SSR2,stop_gained,p.Glu36Ter,ENST00000466905,;SSR2,stop_gained,p.Glu36Ter,ENST00000474377,;SSR2,stop_gained,p.Glu36Ter,ENST00000531790,;SSR2,non_coding_transcript_exon_variant,,ENST00000368311,;SSR2,non_coding_transcript_exon_variant,,ENST00000488179,;SSR2,non_coding_transcript_exon_variant,,ENST00000484320,;SSR2,non_coding_transcript_exon_variant,,ENST00000480176,;SSR2,non_coding_transcript_exon_variant,,ENST00000532074,;SSR2,non_coding_transcript_exon_variant,,ENST00000472898,;SSR2,non_coding_transcript_exon_variant,,ENST00000467041,;	uc001fmx.2	c.106G>T	178/1116	5	1			c.106G>T						1	SNP	c.(106-108)GAG>TAG	61	61				0	Broad	signal sequence receptor, beta precursor			155989853		0.483	ENSG00000163479	14959	g.chr1:155989853C>A	cotranslational protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	signal sequence binding							103.149746	KEEP	23	19	0.452380952	26	29	23	19	0.452380952	103.516861	26	29	0.430233	1	0	0	0	0	0	1	0	0	--	--		0	A			SSR2_uc001fmw.2_RNA|SSR2_uc001fmy.2_RNA|SSR2_uc010pgv.1_Nonsense_Mutation_p.E55*|SSR2_uc010pgw.1_Nonsense_Mutation_p.E55*	166	GBM-19-2629-TP	p.E36*	C	TCTCGTCCCTCCACGGCGTAT	NM_003145	NP_003136	155989853	P43308	SSRB_HUMAN	0			2	186	-	A	A	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		Nonsense_Mutation	36			Lumenal (Potential).			
SSR3	6747	broad.mit.edu	GRCh37	3	156271443	156271444	+	inframe_insertion,splice_region_variant	In_Frame_Ins	INS	-	-	TTGTGCTTG			TCGA-06-0125-01	TCGA-06-0125-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265044.2:c.252_260dup	p.His86_Lys87insAsnLysHis	p.H86_K87insNKH	ENST00000265044	NM_007107.3	87	aaa/aaCAAGCACAAa	0			1			TTGTGCTTG	K/NKHK	uc003fau.2	protein_coding	YES	CCDS3176.1			260-261/558										0	c.e2+1			Pfam_domain:PF07074,hmmpanther:PTHR13399,hmmpanther:PTHR13399:SF2	signal sequence receptor gamma subunit				ENSP00000265044													.		ENST00000265044	Transcript			cotranslational protein targeting to membrane	integral to endoplasmic reticulum membrane|microsome|Sec61 translocon complex	protein binding|signal sequence binding	ENSG00000114850	g.chr3:156271443_156271444insTTGTGCTTG	11325			MODERATE								--	--	1																																		SSR3_uc011bop.1_Splice_Site_p.K87_splice		1			p.K87_splice	NM_007107	NP_009038				SSRG_HUMAN	SSR3	HGNC	Q9UNL2	SSRG_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		C9J365_HUMAN		2	317	-			UPI0000136005						insertion	SSR3,inframe_insertion,p.His86_Lys87insAsnLysHis,ENST00000265044,NM_007107.3;SSR3,inframe_insertion,p.His86_Lys87insAsnLysHis,ENST00000467789,;SSR3,inframe_insertion,p.His86_Lys87insAsnLysHis,ENST00000476217,;SSR3,inframe_insertion,p.His34_Lys35insAsnLysHis,ENST00000463503,;SSR3,inframe_insertion,p.His34_Lys35insAsnLysHis,ENST00000496050,;SSR3,upstream_gene_variant,,ENST00000478842,;SSR3,upstream_gene_variant,,ENST00000464138,;SSR3,splice_region_variant,,ENST00000467733,;SSR3,upstream_gene_variant,,ENST00000498205,;	uc003fau.2	c.260_splice	355-356/3716	5	5			c.260_splice						3	INS	c.e2+1	31	31				0	Broad	signal sequence receptor gamma subunit			156271444		0.312	ENSG00000114850	14960	g.chr3:156271443_156271444insTTGTGCTTG	cotranslational protein targeting to membrane	integral to endoplasmic reticulum membrane|microsome|Sec61 translocon complex	protein binding|signal sequence binding																				0.2	1	0	0	1	1	0	0	0	1	--	--		0	TTGTGCTTG			SSR3_uc011bop.1_Splice_Site_p.K87_splice	12	GBM-06-0125-TP	p.K87_splice	-	AACATACTTACTTGTGCTTGAG	NM_007107	NP_009038	156271443	Q9UNL2	SSRG_HUMAN	0	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		2	317	-	TTGTGCTTG	TTGTGCTTG			Splice_Site							
SSRP1	0	broad.mit.edu	GRCh37	11	57093935	57093937	+	inframe_deletion	In_Frame_Del	DEL	TTC	TTC	-	rs142261788		TCGA-19-2629-01	TCGA-19-2629-01	TTC	TTC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278412.2:c.2074_2076delGAA	p.Glu692del	p.E692del	ENST00000278412	NM_003146.2	692	GAA/-	0			1			-	E/-	uc001njt.2	protein_coding	YES	CCDS7952.1			2074-2076/2130									ovary(2)	2	c.(2074-2076)GAAdel			hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF2,Low_complexity_(Seg):seg	structure specific recognition protein 1				ENSP00000278412		17/17									rs764601446	17/17	.		ENST00000278412	Transcript			DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	ENSG00000149136	g.chr11:57093935_57093937delTTC	11327			MODERATE								--	--	1																																		TNKS1BP1_uc001njs.2_5'Flank|TNKS1BP1_uc009ymd.1_5'Flank		1			p.E692del	NM_003146	NP_003137				SSRP1_HUMAN	SSRP1	HGNC	Q08945	SSRP1_HUMAN			E9PPZ7_HUMAN,E9PMD4_HUMAN		17	2341_2343	-			UPI000013601D	692			Ser-rich.		deletion	SSRP1,inframe_deletion,p.Glu692del,ENST00000278412,NM_003146.2;TNKS1BP1,upstream_gene_variant,,ENST00000532437,;TNKS1BP1,upstream_gene_variant,,ENST00000358252,NM_033396.2;TNKS1BP1,upstream_gene_variant,,ENST00000527207,;snoU13,downstream_gene_variant,,ENST00000459327,;RP11-872D17.4,intron_variant,,ENST00000534162,;SSRP1,non_coding_transcript_exon_variant,,ENST00000293880,;TNKS1BP1,upstream_gene_variant,,ENST00000528882,;	uc001njt.2	c.2074_2076delGAA	2341-2343/2819	5	5			c.2074_2076delGAA						11	DEL	c.(2074-2076)GAAdel	45	45			ovary(2)	2	Broad	structure specific recognition protein 1			57093937		0.552	ENSG00000149136	14962	g.chr11:57093935_57093937delTTC	DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	Colon(89;1000 1340 6884 23013 41819)			Colon(89;1000 1340 6884 23013 41819)																0.16	1	1	0	1	0	0	0	0	0	--	--		0	-			TNKS1BP1_uc001njs.2_5'Flank|TNKS1BP1_uc009ymd.1_5'Flank	166	GBM-19-2629-TP	p.E692del	TTC	TACTGGCTAGTTCTTCTTCTTCA	NM_003146	NP_003137	57093935	Q08945	SSRP1_HUMAN	0			17	2341_2343	-	-	-			In_Frame_Del	692			Ser-rich.			
SST	0	broad.mit.edu	GRCh37	3	187387016	187387016	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs149673471		TCGA-32-4211-01	TCGA-32-4211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000287641.3:c.188C>T	p.Thr63Met	p.T63M	ENST00000287641	NM_001048.3	63	aCg/aTg	0	A:0.0016	A:0.0023	1	A:0		A	T/M	uc003frn.2	protein_coding	YES	CCDS3288.1			188/351									pancreas(1)	1	c.(187-189)ACG>ATG			PIRSF_domain:PIRSF001814,hmmpanther:PTHR10558	somatostatin preproprotein	Bromocriptine(DB01200)|Cysteamine(DB00847)	A:0	A:0	ENSP00000287641	A:0	2-Feb	0.000222	0.00192	0.000259	0.000116		4.50E-05			rs149673471,COSM1537481	2-Feb	common_variant		ENST00000287641	Transcript		A:0.0006	digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity	ENSG00000157005	g.chr3:187387016G>A	11329			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=SMS_HUMAN&rb=1&re=98&var=T63M	NA	getma.org/?cm=var&var=hg19,3,187387016,G,A&fts=all	T63M	--	--	1																																			0,1	1		benign(0.001)	p.T63M	NM_001048	NP_001039	A:0	deleterious(0.03)	0,1	SMS_HUMAN	SST	HGNC	P61278	SMS_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)			2	310	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		UPI0000135AE3	63					SNV	SST,missense_variant,p.Thr63Met,ENST00000287641,NM_001048.3;	uc003frn.2	c.188C>T	296/618	2	2			c.188C>T						3	SNP	c.(187-189)ACG>ATG	28	28			pancreas(1)	1	Broad	somatostatin preproprotein		Bromocriptine(DB01200)|Cysteamine(DB00847)	187387016		0.517	ENSG00000157005	14964	g.chr3:187387016G>A	digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity							-158.031077	KEEP	8	5	-1	390	374	8	5	-1	18.145535	390	374	0.017857	1	0	0	0	0	1	0	0	0	--	--		0	A				246	GBM-32-4211-TP	p.T63M	G	ATCATTCTCCGTCTGGTTGGG	NM_001048	NP_001039	187387016	P61278	SMS_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	2	310	-	A	A	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		Missense_Mutation	63						
SSTR4	6754	broad.mit.edu	GRCh37	20	23016952	23016952	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0152-01	TCGA-06-0152-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255008.3:c.832G>T	p.Val278Leu	p.V278L	ENST00000255008	NM_001052.2	278	Gtg/Ttg	0			1			T	V/L	uc002wsr.2	protein_coding	YES	CCDS42856.1			832/1167									ovary(1)	1	c.(832-834)GTG>TTG			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF15,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237	somatostatin receptor 4				ENSP00000255008		1-Jan									COSM2149895	1-Jan	.		ENST00000255008	Transcript			G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	ENSG00000132671	g.chr20:23016952G>T	11333			MODERATE		0.665	neutral	getma.org/?cm=msa&ty=f&p=SSR4_HUMAN&rb=64&re=311&var=V278L	getma.org/pdb.php?prot=SSR4_HUMAN&from=64&to=311&var=V278L	getma.org/?cm=var&var=hg19,20,23016952,G,T&fts=all	V278L	--	--	1																																			1	1		possibly_damaging(0.817)	p.V278L	NM_001052	NP_001043		tolerated(0.74)	1	SSR4_HUMAN	SSTR4	HGNC	P31391	SSR4_HUMAN					1	896	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		UPI000013CE7A	278			Helical; Name=6; (Potential).		SNV	SSTR4,missense_variant,p.Val278Leu,ENST00000255008,NM_001052.2;RP4-753D10.3,intron_variant,,ENST00000440921,;RP4-753D10.3,upstream_gene_variant,,ENST00000419734,;	uc002wsr.2	c.832G>T	896/1258	2	2			c.832G>T						20	SNP	c.(832-834)GTG>TTG	23	23			ovary(1)	1	Broad	somatostatin receptor 4			23016952		0.577	ENSG00000132671	14968	g.chr20:23016952G>T	G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	Esophageal Squamous(15;850 1104 16640)			Esophageal Squamous(15;850 1104 16640)			65.347819	KEEP	16	15	0.516129032	64	53	16	15	0.516129032	76.040964	64	53	0.210145	1	0	0	0	0	1	0	0	0	--	--		0	T				25	GBM-06-0152-TP	p.V278L	G	TTTCTACGTGGTGCAGCTGCT	NM_001052	NP_001043	23016952	P31391	SSR4_HUMAN	0			1	896	+	T	T	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		Missense_Mutation	278			Helical; Name=6; (Potential).			
SSTR4	0	broad.mit.edu	GRCh37	20	23016973	23016973	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255008.3:c.853G>A	p.Val285Met	p.V285M	ENST00000255008	NM_001052.2	285	Gtg/Atg	0	C:0		1			A	V/M	uc002wsr.2	protein_coding	YES	CCDS42856.1			853/1167									ovary(1)	1	c.(853-855)GTG>ATG			PROSITE_profiles:PS50262,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF15,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00246,Prints_domain:PR00590	somatostatin receptor 4			C:0.0001	ENSP00000255008		1-Jan	1.65E-05		8.64E-05			1.50E-05			rs368872232,COSM576979	1-Jan	.		ENST00000255008	Transcript			G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	ENSG00000132671	g.chr20:23016973G>A	11333			MODERATE		0.76	neutral	getma.org/?cm=msa&ty=f&p=SSR4_HUMAN&rb=64&re=311&var=V285M	getma.org/pdb.php?prot=SSR4_HUMAN&from=64&to=311&var=V285M	getma.org/?cm=var&var=hg19,20,23016973,G,A&fts=all	V285M	--	--	1																																			0,1	1		benign(0.072)	p.V285M	NM_001052	NP_001043		deleterious(0.04)	0,1	SSR4_HUMAN	SSTR4	HGNC	P31391	SSR4_HUMAN					1	917	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		UPI000013CE7A	285			Extracellular (Potential).		SNV	SSTR4,missense_variant,p.Val285Met,ENST00000255008,NM_001052.2;RP4-753D10.3,intron_variant,,ENST00000440921,;RP4-753D10.3,upstream_gene_variant,,ENST00000419734,;	uc002wsr.2	c.853G>A	917/1258	1	1			c.853G>A						20	SNP	c.(853-855)GTG>ATG	59	59			ovary(1)	1	Broad	somatostatin receptor 4			23016973		0.552	ENSG00000132671	14968	g.chr20:23016973G>A	G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	Esophageal Squamous(15;850 1104 16640)			Esophageal Squamous(15;850 1104 16640)			186.505017	KEEP	35	33	-1	46	52	35	33	-1	187.27794	46	52	0.422819	1	0	0	0	0	1	0	0	0	--	--		0	A				190	GBM-27-1831-TP	p.V285M	G	GAACCTCTTCGTGACCAGCCT	NM_001052	NP_001043	23016973	P31391	SSR4_HUMAN	0			1	917	+	A	A	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		Missense_Mutation	285			Extracellular (Potential).			
SSTR5	6755		GRCh37	16	1129345	1129345	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000293897.4:c.477G>A	p.Ala159=	p.A159=	ENST00000293897	NM_001053.3	159	gcG/gcA	0																																																																																																																																																																																																																																												
SSX3	0	broad.mit.edu	GRCh37	X	48209558	48209558	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T			TCGA-14-0786-01	TCGA-14-0786-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298396.2:c.331-1G>A		p.X111_splice	ENST00000298396	NM_021014.3			0			1			T		uc004djd.1	protein_coding	YES	CCDS14291.1			331/567										0	c.e6-1				synovial sarcoma, X breakpoint 3 isoform a				ENSP00000298396											COSM3406408,COSM3406409,COSM3406410		.		ENST00000298396	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	ENSG00000165584	g.chrX:48209558C>T	11337			HIGH	7-May							--	--	1																																		SSX3_uc004dje.2_Splice_Site_p.I111_splice	1,1,1	1			p.I111_splice	NM_021014	NP_066294			1,1,1	SSX3_HUMAN	SSX3	HGNC	Q99909	SSX3_HUMAN					6	425	-			UPI000013E4CD						SNV	SSX3,splice_acceptor_variant,,ENST00000298396,NM_021014.3;SSX3,splice_acceptor_variant,,ENST00000376893,;SSX3,splice_acceptor_variant,,ENST00000376895,;	uc004djd.1	c.331_splice	-/1232	5	2			c.331_splice						23	SNP	c.e6-1	29	29				0	Broad	synovial sarcoma, X breakpoint 3 isoform a			48209558		0.323	ENSG00000165584	14973	g.chrX:48209558C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	Colon(37;227 826 19399 40970 48007)			Colon(37;227 826 19399 40970 48007)			696.195351	KEEP	120	131	-1	168	182	120	131	-1	699.366313	168	182	0.417603	1	0	0	0	0	0	0	0	1	--	--		0	T			SSX3_uc004dje.2_Splice_Site_p.I111_splice	134	GBM-14-0786-TP	p.I111_splice	C	TGGGCATGATCTTTATAATGT	NM_021014	NP_066294	48209558	Q99909	SSX3_HUMAN	0			6	425	-	T	T			Splice_Site							
SSX5	6758		GRCh37	X	48053576	48053576	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000311798.1:c.392G>A	p.Arg131His	p.R131H	ENST00000311798	NM_021015.3	131	cGt/cAt	0																																																																																																																																																																																																																																												
SSX7	0	broad.mit.edu	GRCh37	X	52677324	52677324	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-27-1838-01	TCGA-27-1838-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298181.5:c.453T>C	p.Ile151=	p.I151=	ENST00000298181	NM_173358.2	151	atT/atC	0			1			G	I	uc004dqx.1	protein_coding	YES	CCDS14343.1			453/567									skin(1)	1	c.(451-453)ATT>ATC			hmmpanther:PTHR14112:SF6,hmmpanther:PTHR14112	synovial sarcoma, X breakpoint 7				ENSP00000298181		8-Jun									COSM3406462	8-Jun	.		ENST00000298181	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	ENSG00000187754	g.chrX:52677324A>G	19653			LOW								--	--	1																																			1	1			p.I151I	NM_173358	NP_775494			1	SSX7_HUMAN	SSX7	HGNC	Q7RTT5	SSX7_HUMAN					6	612	-	Ovarian(276;0.236)		UPI0000161119	151					SNV	SSX7,synonymous_variant,p.=,ENST00000298181,NM_173358.2;	uc004dqx.1	c.453T>C	612/1311	4	4			c.453T>C						23	SNP	c.(451-453)ATT>ATC	32	32			skin(1)	1	Broad	synovial sarcoma, X breakpoint 7			52677324		0.512	ENSG00000187754	14975	g.chrX:52677324A>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding							-30.975441	KEEP	15	13	-1	220	215	15	13	-1	60.387419	220	215	0.054795	1	0	0	0	0	0	0	1	0	--	--		0	G				197	GBM-27-1838-TP	p.I151I	A	ATGTCTTGTTAATCTTCTCAG	NM_173358	NP_775494	52677324	Q7RTT5	SSX7_HUMAN	0			6	612	-	G	G	Ovarian(276;0.236)		Silent	151						
SSX8			GRCh37	X	52654550	52654550	+	splice_acceptor_variant,non_coding_transcript_variant	Splice_Site	SNP	A	A	T			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000414360.2:n.353-2A>T		p.X118_splice	ENST00000414360		118		0																																																																																																																																																																																																																																												
ST14	6768	broad.mit.edu	GRCh37	11	130069961	130069961	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0645-01	TCGA-06-0645-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278742.5:c.1923C>T	p.Cys641=	p.C641=	ENST00000278742	NM_021978.3	641	tgC/tgT	0			1			T	C	uc001qfw.2	protein_coding	YES	CCDS8487.1			1923/2568									ovary(2)|skin(2)|central_nervous_system(1)	5	c.(1921-1923)TGC>TGT			Superfamily_domains:SSF50494,SMART_domains:SM00020,PIRSF_domain:PIRSF036370,Pfam_domain:PF00089,Gene3D:2.40.10.10,hmmpanther:PTHR24256:SF20,hmmpanther:PTHR24256,PROSITE_profiles:PS50240	matriptase	Urokinase(DB00013)			ENSP00000278742		16/19	1.65E-05		8.66E-05			1.50E-05			rs780085788,COSM3397562	16/19	.		ENST00000278742	Transcript	1		proteolysis	integral to plasma membrane	serine-type endopeptidase activity	ENSG00000149418	g.chr11:130069961C>T	11344			LOW								--	--	1																																			0,1	1			p.C641C	NM_021978	NP_068813			0,1	ST14_HUMAN	ST14	HGNC	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Q8WVC1_HUMAN		16	2116	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	UPI00000012E9	641			Extracellular (Potential).|Peptidase S1.		SNV	ST14,synonymous_variant,p.=,ENST00000278742,NM_021978.3;ST14,downstream_gene_variant,,ENST00000530532,;ST14,downstream_gene_variant,,ENST00000524718,;ST14,downstream_gene_variant,,ENST00000530376,;	uc001qfw.2	c.1923C>T	2341/3539	1	1			c.1923C>T						11	SNP	c.(1921-1923)TGC>TGT	15	15			ovary(2)|skin(2)|central_nervous_system(1)	5	Broad	matriptase		Urokinase(DB00013)	130069961		0.627	ENSG00000149418	14977	g.chr11:130069961C>T	proteolysis	integral to plasma membrane	serine-type endopeptidase activity							-10.041852	KEEP	2	3	-1	43	50	2	3	-1	8.509327	43	50	0.047059	1	0	0	0	0	0	0	1	0	--	--		0	T				59	GBM-06-0645-TP	p.C641C	C	GCCACATCTGCGGTGCTTCCC	NM_021978	NP_068813	130069961	Q9Y5Y6	ST14_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	16	2116	+	T	T	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	Silent	641			Extracellular (Potential).|Peptidase S1.			
ST14	0	broad.mit.edu	GRCh37	11	130069857	130069857	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2624-01	TCGA-19-2624-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278742.5:c.1819C>T	p.Arg607Trp	p.R607W	ENST00000278742	NM_021978.3	607	Cgg/Tgg	0			1			T	R/W	uc001qfw.2	protein_coding	YES	CCDS8487.1			1819/2568									ovary(2)|skin(2)|central_nervous_system(1)	5	c.(1819-1821)CGG>TGG			Superfamily_domains:SSF50494,PIRSF_domain:PIRSF036370,hmmpanther:PTHR24256:SF20,hmmpanther:PTHR24256	matriptase	Urokinase(DB00013)			ENSP00000278742		16/19									COSM3397561	16/19	.		ENST00000278742	Transcript	1		proteolysis	integral to plasma membrane	serine-type endopeptidase activity	ENSG00000149418	g.chr11:130069857C>T	11344			MODERATE		2.665	medium	getma.org/?cm=msa&ty=f&p=ST14_HUMAN&rb=573&re=644&var=R607W	NA	getma.org/?cm=var&var=hg19,11,130069857,C,T&fts=all	R607W	--	--	1																																			1	1		probably_damaging(0.949)	p.R607W	NM_021978	NP_068813		deleterious(0)	1	ST14_HUMAN	ST14	HGNC	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Q8WVC1_HUMAN		16	2012	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	UPI00000012E9	607			Extracellular (Potential).		SNV	ST14,missense_variant,p.Arg607Trp,ENST00000278742,NM_021978.3;ST14,downstream_gene_variant,,ENST00000530532,;ST14,downstream_gene_variant,,ENST00000524718,;ST14,downstream_gene_variant,,ENST00000530376,;	uc001qfw.2	c.1819C>T	2237/3539	2	2			c.1819C>T						11	SNP	c.(1819-1821)CGG>TGG	39	39			ovary(2)|skin(2)|central_nervous_system(1)	5	Broad	matriptase		Urokinase(DB00013)	130069857		0.612	ENSG00000149418	14977	g.chr11:130069857C>T	proteolysis	integral to plasma membrane	serine-type endopeptidase activity							26.46485	KEEP	10	13	-1	65	56	10	13	-1	39.59432	65	56	0.141509	1	0	0	0	0	1	0	0	0	--	--		0	T				164	GBM-19-2624-TP	p.R607W	C	CTGTGGGCTGCGGTCATTCAC	NM_021978	NP_068813	130069857	Q9Y5Y6	ST14_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	16	2012	+	T	T	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	Missense_Mutation	607			Extracellular (Potential).			
ST14	0	broad.mit.edu	GRCh37	11	130064098	130064098	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-5222-01	TCGA-32-5222-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278742.5:c.930C>A	p.Asn310Lys	p.N310K	ENST00000278742	NM_021978.3	310	aaC/aaA	0			1			A	N/K	uc001qfw.2	protein_coding	YES	CCDS8487.1			930/2568									ovary(2)|skin(2)|central_nervous_system(1)	5	c.(928-930)AAC>AAA			Superfamily_domains:SSF49854,SMART_domains:SM00042,PIRSF_domain:PIRSF036370,Gene3D:2.60.120.290,Pfam_domain:PF00431,hmmpanther:PTHR24256:SF20,hmmpanther:PTHR24256,PROSITE_profiles:PS01180	matriptase	Urokinase(DB00013)			ENSP00000278742		19-Aug									COSM3397560	19-Aug	.		ENST00000278742	Transcript	1		proteolysis	integral to plasma membrane	serine-type endopeptidase activity	ENSG00000149418	g.chr11:130064098C>A	11344			MODERATE		3.245	medium	getma.org/?cm=msa&ty=f&p=ST14_HUMAN&rb=223&re=331&var=N310K	getma.org/pdb.php?prot=ST14_HUMAN&from=223&to=331&var=N310K	getma.org/?cm=var&var=hg19,11,130064098,C,A&fts=all	N310K	--	--	1																																		ST14_uc010sca.1_Missense_Mutation_p.N120K	1	1		probably_damaging(0.958)	p.N310K	NM_021978	NP_068813		deleterious(0)	1	ST14_HUMAN	ST14	HGNC	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Q8WVC1_HUMAN		8	1123	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	UPI00000012E9	310			Extracellular (Potential).|CUB 1.		SNV	ST14,missense_variant,p.Asn310Lys,ENST00000278742,NM_021978.3;ST14,non_coding_transcript_exon_variant,,ENST00000530532,;ST14,non_coding_transcript_exon_variant,,ENST00000524718,;ST14,non_coding_transcript_exon_variant,,ENST00000530376,;	uc001qfw.2	c.930C>A	1348/3539	1	1			c.930C>A						11	SNP	c.(928-930)AAC>AAA	59	59			ovary(2)|skin(2)|central_nervous_system(1)	5	Broad	matriptase		Urokinase(DB00013)	130064098		0.587	ENSG00000149418	14977	g.chr11:130064098C>A	proteolysis	integral to plasma membrane	serine-type endopeptidase activity							193.509452	KEEP	53	57	0.518181818	118	119	53	57	0.518181818	203.047575	118	119	0.283186	1	0	0	0	0	1	0	0	0	--	--		0	A			ST14_uc010sca.1_Missense_Mutation_p.N120K	249	GBM-32-5222-TP	p.N310K	C	CCTCCCAGAACGTCCTGCTCA	NM_021978	NP_068813	130064098	Q9Y5Y6	ST14_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	8	1123	+	A	A	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	Missense_Mutation	310			Extracellular (Potential).|CUB 1.			
ST18	9705	broad.mit.edu	GRCh37	8	53073986	53073986	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs2303460	byFrequency;by1000genomes	TCGA-06-0166-01	TCGA-06-0166-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276480.7:c.1543C>T	p.Arg515Cys	p.R515C	ENST00000276480	NM_014682.2	515	Cgc/Tgc	0	A:0.0002	A:0.0008	1	A:0		A	R/C	uc003xqz.2	protein_coding	YES	CCDS6149.1			1543/3144									ovary(4)|skin(1)	5	c.(1543-1545)CGC>TGC			hmmpanther:PTHR10816:SF9,hmmpanther:PTHR10816,Pfam_domain:PF08474	suppression of tumorigenicity 18		A:0.003	A:0.0002	ENSP00000276480	A:0	14/26	0.000231	0.000577	8.64E-05	0.00139		0.000135			rs2303460,COSM3413057	14/26	common_variant		ENST00000276480	Transcript		A:0.0008		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000147488	g.chr8:53073986G>A	18695			MODERATE		1.66	low	getma.org/?cm=msa&ty=f&p=ST18_HUMAN&rb=478&re=716&var=R515C	NA	getma.org/?cm=var&var=hg19,8,53073986,G,A&fts=all	R515C	--	--	1																																		ST18_uc011ldq.1_Missense_Mutation_p.R162C|ST18_uc011ldr.1_Missense_Mutation_p.R480C|ST18_uc011lds.1_Missense_Mutation_p.R420C|ST18_uc003xra.2_Missense_Mutation_p.R515C|ST18_uc003xrb.2_Missense_Mutation_p.R515C	0,1	1		benign(0.003)	p.R515C	NM_014682	NP_055497	A:0	deleterious(0.04)	0,1	ST18_HUMAN	ST18	HGNC	O60284	ST18_HUMAN			E5RHS3_HUMAN		9	1699	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	UPI0000046C30	515					SNV	ST18,missense_variant,p.Arg515Cys,ENST00000276480,NM_014682.2;ST18,missense_variant,p.Arg515Cys,ENST00000517580,;ST18,3_prime_UTR_variant,,ENST00000522251,;ST18,3_prime_UTR_variant,,ENST00000521582,;ST18,3_prime_UTR_variant,,ENST00000521824,;	uc003xqz.2	c.1543C>T	2227/6187	2	2			c.1543C>T						8	SNP	c.(1543-1545)CGC>TGC	41	41			ovary(4)|skin(1)	5	Broad	suppression of tumorigenicity 18			53073986		0.433	ENSG00000147488	14978	g.chr8:53073986G>A		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							-39.808182	KEEP	6	4	-1	134	135	6	4	-1	15.488212	134	135	0.034188	1	0	0	0	0	1	0	0	0	--	--		0	A			ST18_uc011ldq.1_Missense_Mutation_p.R162C|ST18_uc011ldr.1_Missense_Mutation_p.R480C|ST18_uc011lds.1_Missense_Mutation_p.R420C|ST18_uc003xra.2_Missense_Mutation_p.R515C|ST18_uc003xrb.2_Missense_Mutation_p.R515C	31	GBM-06-0166-TP	p.R515C	G	ATGAGAGGGCGTTTACCGAAA	NM_014682	NP_055497	53073986	O60284	ST18_HUMAN	0			9	1699	-	A	A		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	Missense_Mutation	515						
ST18	9705	broad.mit.edu	GRCh37	8	53025895	53025895	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01	TCGA-06-0174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276480.7:c.3007C>T	p.Pro1003Ser	p.P1003S	ENST00000276480	NM_014682.2	1003	Cct/Tct	0			1			A	P/S	uc003xqz.2	protein_coding	YES	CCDS6149.1			3007/3144									ovary(4)|skin(1)	5	c.(3007-3009)CCT>TCT			hmmpanther:PTHR10816:SF9,hmmpanther:PTHR10816	suppression of tumorigenicity 18				ENSP00000276480		26/26									COSM3413055	26/26	.		ENST00000276480	Transcript				nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000147488	g.chr8:53025895G>A	18695			MODERATE		2.14	medium	getma.org/?cm=msa&ty=f&p=ST18_HUMAN&rb=897&re=1047&var=P1003S	NA	getma.org/?cm=var&var=hg19,8,53025895,G,A&fts=all	P1003S	--	--	1																																		ST18_uc011ldq.1_Missense_Mutation_p.P650S|ST18_uc011ldr.1_Missense_Mutation_p.P968S|ST18_uc011lds.1_Missense_Mutation_p.P908S|ST18_uc003xra.2_Missense_Mutation_p.P1003S	1	1		probably_damaging(1)	p.P1003S	NM_014682	NP_055497		deleterious(0.02)	1	ST18_HUMAN	ST18	HGNC	O60284	ST18_HUMAN			E5RHS3_HUMAN		21	3163	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	UPI0000046C30	1003					SNV	ST18,missense_variant,p.Pro1003Ser,ENST00000276480,NM_014682.2;ST18,3_prime_UTR_variant,,ENST00000522251,;ST18,3_prime_UTR_variant,,ENST00000521582,;ST18,3_prime_UTR_variant,,ENST00000521824,;ST18,downstream_gene_variant,,ENST00000518053,;	uc003xqz.2	c.3007C>T	3691/6187	2	2			c.3007C>T						8	SNP	c.(3007-3009)CCT>TCT	41	41			ovary(4)|skin(1)	5	Broad	suppression of tumorigenicity 18			53025895		0.463	ENSG00000147488	14978	g.chr8:53025895G>A		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							177.961749	KEEP	35	29	-1	38	39	35	29	-1	178.17251	38	39	0.456	1	0	0	0	0	1	0	0	0	--	--		0	A			ST18_uc011ldq.1_Missense_Mutation_p.P650S|ST18_uc011ldr.1_Missense_Mutation_p.P968S|ST18_uc011lds.1_Missense_Mutation_p.P908S|ST18_uc003xra.2_Missense_Mutation_p.P1003S	37	GBM-06-0174-TP	p.P1003S	G	TCACTGATAGGTCCCTAAATG	NM_014682	NP_055497	53025895	O60284	ST18_HUMAN	0			21	3163	-	A	A		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	Missense_Mutation	1003						
ST18	0	broad.mit.edu	GRCh37	8	53044717	53044717	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276480.7:c.2467G>A	p.Gly823Ser	p.G823S	ENST00000276480	NM_014682.2	823	Ggc/Agc	0			1			T	G/S	uc003xqz.2	protein_coding	YES	CCDS6149.1			2467/3144									ovary(4)|skin(1)	5	c.(2467-2469)GGC>AGC			hmmpanther:PTHR10816:SF9,hmmpanther:PTHR10816,Pfam_domain:PF01530,Superfamily_domains:0042508	suppression of tumorigenicity 18				ENSP00000276480		22/26									COSM3413056	22/26	.		ENST00000276480	Transcript				nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000147488	g.chr8:53044717C>T	18695			MODERATE		1.54	low	getma.org/?cm=msa&ty=f&p=ST18_HUMAN&rb=813&re=843&var=G823S	getma.org/pdb.php?prot=ST18_HUMAN&from=813&to=843&var=G823S	getma.org/?cm=var&var=hg19,8,53044717,C,T&fts=all	G823S	--	--	1																																		ST18_uc011ldq.1_Missense_Mutation_p.G470S|ST18_uc011ldr.1_Missense_Mutation_p.G788S|ST18_uc011lds.1_Missense_Mutation_p.G728S|ST18_uc003xra.2_Missense_Mutation_p.G823S	1	1		possibly_damaging(0.687)	p.G823S	NM_014682	NP_055497		tolerated(0.13)	1	ST18_HUMAN	ST18	HGNC	O60284	ST18_HUMAN			E5RHS3_HUMAN		17	2623	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	UPI0000046C30	823			C2HC-type 5.		SNV	ST18,missense_variant,p.Gly823Ser,ENST00000276480,NM_014682.2;ST18,downstream_gene_variant,,ENST00000518501,;ST18,3_prime_UTR_variant,,ENST00000522251,;ST18,3_prime_UTR_variant,,ENST00000521582,;ST18,3_prime_UTR_variant,,ENST00000521824,;ST18,non_coding_transcript_exon_variant,,ENST00000518053,;ST18,non_coding_transcript_exon_variant,,ENST00000522861,;	uc003xqz.2	c.2467G>A	3151/6187	1	1			c.2467G>A						8	SNP	c.(2467-2469)GGC>AGC	6	6			ovary(4)|skin(1)	5	Broad	suppression of tumorigenicity 18			53044717		0.498	ENSG00000147488	14978	g.chr8:53044717C>T		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							90.96731	KEEP	16	19	-1	26	26	16	19	-1	91.671302	26	26	0.4	1	0	0	0	0	1	0	0	0	--	--		0	T			ST18_uc011ldq.1_Missense_Mutation_p.G470S|ST18_uc011ldr.1_Missense_Mutation_p.G788S|ST18_uc011lds.1_Missense_Mutation_p.G728S|ST18_uc003xra.2_Missense_Mutation_p.G823S	249	GBM-32-5222-TP	p.G823S	C	TGACCTTGGCCATCACACCCT	NM_014682	NP_055497	53044717	O60284	ST18_HUMAN	0			17	2623	-	T	T		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	Missense_Mutation	823			C2HC-type 5.			
ST3GAL6	10402	broad.mit.edu	GRCh37	3	98507190	98507190	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0747-01	TCGA-06-0747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394162.1:c.639G>C	p.Lys213Asn	p.K213N	ENST00000394162	NM_006100.3	213	aaG/aaC	0			1			C	K/N	uc003dsz.2	protein_coding	YES	CCDS2933.1			639/996									ovary(1)	1	c.(637-639)AAG>AAC			hmmpanther:PTHR13713:SF8,hmmpanther:PTHR13713,Pfam_domain:PF00777,PIRSF_domain:PIRSF005557	alpha2,3-sialyltransferase VI				ENSP00000377717		11-Sep									COSM2151806	11-Sep	.		ENST00000394162	Transcript			amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity	ENSG00000064225	g.chr3:98507190G>C	18080			MODERATE		2.89	medium	getma.org/?cm=msa&ty=f&p=SIA10_HUMAN&rb=59&re=331&var=K213N	getma.org/pdb.php?prot=SIA10_HUMAN&from=59&to=331&var=K213N	getma.org/?cm=var&var=hg19,3,98507190,G,C&fts=all	K213N	--	--	1																																		ST3GAL6_uc003dsy.2_Missense_Mutation_p.K127N|ST3GAL6_uc003dta.2_Missense_Mutation_p.K95N|ST3GAL6_uc003dtb.2_Missense_Mutation_p.K69N|ST3GAL6_uc003dtc.2_Missense_Mutation_p.K213N|ST3GAL6_uc010hpd.2_Missense_Mutation_p.K266N	1	1		probably_damaging(0.955)	p.K213N	NM_006100	NP_006091		deleterious(0.02)	1	SIA10_HUMAN	ST3GAL6	HGNC	Q9Y274	SIA10_HUMAN			C9JXM2_HUMAN,C9JWJ3_HUMAN,C9J0E2_HUMAN		8	875	+			UPI0000073CE3	213			Lumenal (Potential).		SNV	ST3GAL6,missense_variant,p.Lys95Asn,ENST00000265261,NM_001271142.1,NM_001271147.1;ST3GAL6,missense_variant,p.Lys213Asn,ENST00000394162,NM_006100.3,NM_001271145.1;ST3GAL6,missense_variant,p.Lys213Asn,ENST00000483910,NM_001271146.1;ST3GAL6,missense_variant,p.Lys236Asn,ENST00000492254,;ST3GAL6,missense_variant,p.Lys181Asn,ENST00000485391,;ST3GAL6,missense_variant,p.Lys213Asn,ENST00000486334,;ST3GAL6,missense_variant,p.Lys127Asn,ENST00000485145,;ST3GAL6,downstream_gene_variant,,ENST00000460774,;ST3GAL6,downstream_gene_variant,,ENST00000497008,;ST3GAL6,downstream_gene_variant,,ENST00000477574,;ST3GAL6,non_coding_transcript_exon_variant,,ENST00000462152,;ST3GAL6,non_coding_transcript_exon_variant,,ENST00000477899,;ST3GAL6,non_coding_transcript_exon_variant,,ENST00000493953,;ST3GAL6,intron_variant,,ENST00000474595,;ST3GAL6,upstream_gene_variant,,ENST00000491912,;ST3GAL6,3_prime_UTR_variant,,ENST00000486249,;ST3GAL6,3_prime_UTR_variant,,ENST00000469105,;ST3GAL6,3_prime_UTR_variant,,ENST00000497621,;ST3GAL6,downstream_gene_variant,,ENST00000495376,;	uc003dsz.2	c.639G>C	1106/2092	4	4			c.639G>C						3	SNP	c.(637-639)AAG>AAC	33	33			ovary(1)	1	Broad	alpha2,3-sialyltransferase VI			98507190		0.323	ENSG00000064225	14985	g.chr3:98507190G>C	amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity							94.083631	KEEP	14	19	-1	46	40	14	19	-1	98.022028	46	40	0.295238	1	0	0	0	0	1	0	0	0	--	--		0	C			ST3GAL6_uc003dsy.2_Missense_Mutation_p.K127N|ST3GAL6_uc003dta.2_Missense_Mutation_p.K95N|ST3GAL6_uc003dtb.2_Missense_Mutation_p.K69N|ST3GAL6_uc003dtc.2_Missense_Mutation_p.K213N|ST3GAL6_uc010hpd.2_Missense_Mutation_p.K266N	68	GBM-06-0747-TP	p.K213N	G	GTTTTTGGAAGAAACCAGCCT	NM_006100	NP_006091	98507190	Q9Y274	SIA10_HUMAN	0			8	875	+	C	C			Missense_Mutation	213			Lumenal (Potential).			
ST5	6764	broad.mit.edu	GRCh37	11	8752166	8752166	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0882-01	TCGA-06-0882-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000534127.1:c.671del	p.Gly224AlafsTer5	p.G224Afs*5	ENST00000534127	NM_005418.3	224	gGc/gc	0			1			-	G/X	uc001mgt.2	protein_coding		CCDS7791.1			671/3414									upper_aerodigestive_tract(1)	1	c.(670-672)GGCfs				suppression of tumorigenicity 5 isoform 1				ENSP00000319678		20-Mar									COSM2152357	20-Mar	.		ENST00000313726	Transcript			positive regulation of ERK1 and ERK2 cascade		protein binding	ENSG00000166444	g.chr11:8752166delC	11350			HIGH								--	--	1																																		ST5_uc009yfr.2_Intron|ST5_uc001mgu.2_Intron|ST5_uc001mgv.2_Frame_Shift_Del_p.G224fs|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Frame_Shift_Del_p.G224fs	1				p.G224fs	NM_213618	NP_998783			1	ST5_HUMAN	ST5	HGNC	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	E9PRS6_HUMAN,E9PQM5_HUMAN,E9PPS6_HUMAN,E9PPL2_HUMAN,E9PN93_HUMAN,E9PMP1_HUMAN,E9PMJ9_HUMAN,E9PME1_HUMAN,E9PM32_HUMAN,E9PLH6_HUMAN,E9PLD7_HUMAN,E9PLB6_HUMAN,E9PKM1_HUMAN,E9PKE0_HUMAN,E9PK36_HUMAN,E9PJY5_HUMAN,E9PJP0_HUMAN,E9PII1_HUMAN,E9PI72_HUMAN		3	857	-			UPI00001AECB8	224					deletion	ST5,frameshift_variant,p.Gly224AlafsTer5,ENST00000534127,NM_005418.3;ST5,frameshift_variant,p.Gly224AlafsTer5,ENST00000313726,NM_213618.1;ST5,frameshift_variant,p.Gly224AlafsTer5,ENST00000357665,;ST5,intron_variant,,ENST00000526757,NM_139157.2;ST5,intron_variant,,ENST00000530438,;ST5,intron_variant,,ENST00000528527,;ST5,intron_variant,,ENST00000526057,;ST5,intron_variant,,ENST00000528196,;ST5,intron_variant,,ENST00000530580,;ST5,intron_variant,,ENST00000533225,;ST5,intron_variant,,ENST00000527510,;ST5,intron_variant,,ENST00000526126,;ST5,intron_variant,,ENST00000531093,;ST5,downstream_gene_variant,,ENST00000526155,;ST5,upstream_gene_variant,,ENST00000530593,;ST5,downstream_gene_variant,,ENST00000533016,;ST5,downstream_gene_variant,,ENST00000530959,;ST5,downstream_gene_variant,,ENST00000534665,;ST5,downstream_gene_variant,,ENST00000533681,;ST5,downstream_gene_variant,,ENST00000527516,;ST5,downstream_gene_variant,,ENST00000524757,;ST5,downstream_gene_variant,,ENST00000525169,;ST5,downstream_gene_variant,,ENST00000527392,;ST5,downstream_gene_variant,,ENST00000527347,;ST5,downstream_gene_variant,,ENST00000534248,;ST5,downstream_gene_variant,,ENST00000528523,;ST5,downstream_gene_variant,,ENST00000527930,;ST5,downstream_gene_variant,,ENST00000533471,;ST5,downstream_gene_variant,,ENST00000526828,;ST5,downstream_gene_variant,,ENST00000533580,;ST5,downstream_gene_variant,,ENST00000530938,;ST5,downstream_gene_variant,,ENST00000526241,;ST5,downstream_gene_variant,,ENST00000527473,;ST5,splice_region_variant,,ENST00000526221,;ST5,intron_variant,,ENST00000533425,;ST5,intron_variant,,ENST00000532651,;ST5,downstream_gene_variant,,ENST00000534783,;ST5,downstream_gene_variant,,ENST00000529940,;ST5,intron_variant,,ENST00000532734,;ST5,upstream_gene_variant,,ENST00000527870,;	uc001mgt.2	c.671delG	1020/4507	5	5			c.671delG						11	DEL	c.(670-672)GGCfs	32	32			upper_aerodigestive_tract(1)	1	Broad	suppression of tumorigenicity 5 isoform 1			8752166		0.642	ENSG00000166444	14986	g.chr11:8752166delC	positive regulation of ERK1 and ERK2 cascade		protein binding																				0.26	1	1	0	1	0	0	0	0	0	--	--		0	-			ST5_uc009yfr.2_Intron|ST5_uc001mgu.2_Intron|ST5_uc001mgv.2_Frame_Shift_Del_p.G224fs|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Frame_Shift_Del_p.G224fs	77	GBM-06-0882-TP	p.G224fs	C	CCTCCGGAGGCCCTTGAAATC	NM_213618	NP_998783	8752166	P78524	ST5_HUMAN	0		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	3	857	-	-	-			Frame_Shift_Del	224						
ST6GAL1	6480	broad.mit.edu	GRCh37	3	186791960	186791960	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000169298.3:c.818C>T	p.Pro273Leu	p.P273L	ENST00000169298	NM_173216.2	273	cCg/cTg	0			1			T	P/L	uc003frb.2	protein_coding	YES	CCDS3285.1			818/1221								p.P273L(1)	central_nervous_system(1)	1	c.(817-819)CCG>CTG			PIRSF_domain:PIRSF005557,Pfam_domain:PF00777,hmmpanther:PTHR13713,hmmpanther:PTHR13713:SF34	ST6 beta-galactosamide				ENSP00000169298		8-Jul	8.24E-06							6.48E-05	rs750933745,COSM43058	8-Jul	.		ENST00000169298	Transcript			humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	ENSG00000073849	g.chr3:186791960C>T	10860			MODERATE		2.565	medium	getma.org/?cm=msa&ty=f&p=SIAT1_HUMAN&rb=136&re=392&var=P273L	NA	getma.org/?cm=var&var=hg19,3,186791960,C,T&fts=all	P273L	--	--	1																																		ST6GAL1_uc003frc.2_Missense_Mutation_p.P42L|ST6GAL1_uc003frd.2_Missense_Mutation_p.P273L	0,1	1		probably_damaging(0.961)	p.P273L	NM_173216	NP_775323			0,1	SIAT1_HUMAN	ST6GAL1	HGNC	P15907	SIAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)	C9K0R8_HUMAN,C9JVK7_HUMAN,C9JTR0_HUMAN,C9JR47_HUMAN,C9JPG6_HUMAN,C9JKG0_HUMAN,C9JI90_HUMAN,C9JH16_HUMAN,C9JFM4_HUMAN,C9JAT4_HUMAN,C9J6X5_HUMAN,C9IYS8_HUMAN,B2R513_HUMAN		7	1250	+	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		UPI000000D97B	273			Lumenal (Potential).		SNV	ST6GAL1,missense_variant,p.Pro273Leu,ENST00000169298,NM_173216.2;ST6GAL1,missense_variant,p.Pro273Leu,ENST00000448044,NM_003032.2;ST6GAL1,missense_variant,p.Pro42Leu,ENST00000457772,NM_173217.2;ST6GAL1,missense_variant,p.Pro42Leu,ENST00000442023,;ST6GAL1,missense_variant,p.Pro42Leu,ENST00000427315,;ST6GAL1,downstream_gene_variant,,ENST00000455441,;ST6GAL1,3_prime_UTR_variant,,ENST00000448449,;ST6GAL1,non_coding_transcript_exon_variant,,ENST00000470633,;	uc003frb.2	c.818C>T	1492/4645	1	1			c.818C>T						3	SNP	c.(817-819)CCG>CTG	11	11		p.P273L(1)	central_nervous_system(1)	1	Broad	ST6 beta-galactosamide			186791960		0.488	ENSG00000073849	14987	g.chr3:186791960C>T	humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity							137.327416	KEEP	26	20	-1	60	51	26	20	-1	142.536621	60	51	0.302013	1	0	0	0	0	1	0	0	0	--	--		0	T			ST6GAL1_uc003frc.2_Missense_Mutation_p.P42L|ST6GAL1_uc003frd.2_Missense_Mutation_p.P273L	23	GBM-06-0145-TP	p.P273L	C	TACCAGAATCCGGATTATAAT	NM_173216	NP_775323	186791960	P15907	SIAT1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)	7	1250	+	T	T	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		Missense_Mutation	273			Lumenal (Potential).			
ST6GAL2	0	broad.mit.edu	GRCh37	2	107460204	107460204	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0786-01	TCGA-14-0786-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361686.4:c.230G>A	p.Arg77His	p.R77H	ENST00000361686	NM_032528.2	77	cGc/cAc	0			1			T	R/H	uc002tdq.2	protein_coding		CCDS2073.1			230/1590									pancreas(6)|ovary(4)|skin(1)	11	c.(229-231)CGC>CAC			hmmpanther:PTHR13713,hmmpanther:PTHR13713:SF48	ST6 beta-galactosamide				ENSP00000355273		6-Feb									COSM3406754,COSM3406755	6-Feb	.		ENST00000361686	Transcript			growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	ENSG00000144057	g.chr2:107460204C>T	10861			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=SIAT2_HUMAN&rb=1&re=139&var=R77H	NA	getma.org/?cm=var&var=hg19,2,107460204,C,T&fts=all	R77H	--	--	1																																		ST6GAL2_uc002tdr.2_Missense_Mutation_p.R77H|ST6GAL2_uc002tds.3_Missense_Mutation_p.R77H	1,1			benign(0.001)	p.R77H	NM_001142351	NP_001135823			1,1	SIAT2_HUMAN	ST6GAL2	HGNC	Q96JF0	SIAT2_HUMAN			C9JIK2_HUMAN,C4N9P8_HUMAN		2	349	-			UPI000007477B	77			Lumenal (Potential).		SNV	ST6GAL2,missense_variant,p.Arg77His,ENST00000409382,NM_001142351.1;ST6GAL2,missense_variant,p.Arg77His,ENST00000361686,NM_032528.2;ST6GAL2,missense_variant,p.Arg77His,ENST00000409087,NM_001142352.1;ST6GAL2,downstream_gene_variant,,ENST00000419159,;AC016994.2,downstream_gene_variant,,ENST00000425419,;	uc002tdq.2	c.230G>A	419/6857	1	1			c.230G>A						2	SNP	c.(229-231)CGC>CAC	5	5			pancreas(6)|ovary(4)|skin(1)	11	Broad	ST6 beta-galactosamide			107460204		0.677	ENSG00000144057	14988	g.chr2:107460204C>T	growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity							79.63383	KEEP	13	15	-1	22	25	13	15	-1	80.425936	22	25	0.385714	1	0	0	0	0	1	0	0	0	--	--		0	T			ST6GAL2_uc002tdr.2_Missense_Mutation_p.R77H|ST6GAL2_uc002tds.3_Missense_Mutation_p.R77H	134	GBM-14-0786-TP	p.R77H	C	CAGCGCCTGGCGTGCGTCCAG	NM_001142351	NP_001135823	107460204	Q96JF0	SIAT2_HUMAN	0			2	349	-	T	T			Missense_Mutation	77			Lumenal (Potential).			
ST6GAL2	0	broad.mit.edu	GRCh37	2	107450522	107450522	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01	TCGA-41-2572-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361686.4:c.1024C>T	p.Arg342Cys	p.R342C	ENST00000361686	NM_032528.2	342	Cgc/Tgc	0		A:0.0008	1	A:0		A	R/C	uc002tdq.2	protein_coding		CCDS2073.1			1024/1590									pancreas(6)|ovary(4)|skin(1)	11	c.(1024-1026)CGC>TGC			Pfam_domain:PF00777,hmmpanther:PTHR13713,hmmpanther:PTHR13713:SF48,Superfamily_domains:SSF88713	ST6 beta-galactosamide		A:0		ENSP00000355273	A:0	6-Mar	1.65E-05	9.61E-05				1.50E-05			rs533150647,COSM267515,COSM3406748	6-Mar	.		ENST00000361686	Transcript		A:0.0002	growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	ENSG00000144057	g.chr2:107450522G>A	10861			MODERATE		3.85	high	getma.org/?cm=msa&ty=f&p=SIAT2_HUMAN&rb=242&re=506&var=R342C	getma.org/pdb.php?prot=SIAT2_HUMAN&from=242&to=506&var=R342C	getma.org/?cm=var&var=hg19,2,107450522,G,A&fts=all	R342C	--	--	1																																		ST6GAL2_uc002tdr.2_Missense_Mutation_p.R342C|ST6GAL2_uc002tds.3_Missense_Mutation_p.R342C	0,1,1			probably_damaging(1)	p.R342C	NM_001142351	NP_001135823	A:0		0,1,1	SIAT2_HUMAN	ST6GAL2	HGNC	Q96JF0	SIAT2_HUMAN			C9JIK2_HUMAN,C4N9P8_HUMAN		3	1143	-			UPI000007477B	342			Lumenal (Potential).		SNV	ST6GAL2,missense_variant,p.Arg342Cys,ENST00000409382,NM_001142351.1;ST6GAL2,missense_variant,p.Arg342Cys,ENST00000361686,NM_032528.2;ST6GAL2,missense_variant,p.Arg342Cys,ENST00000409087,NM_001142352.1;ST6GAL2,upstream_gene_variant,,ENST00000361803,;AC016994.2,upstream_gene_variant,,ENST00000425419,;	uc002tdq.2	c.1024C>T	1213/6857	1	1			c.1024C>T						2	SNP	c.(1024-1026)CGC>TGC	51	51			pancreas(6)|ovary(4)|skin(1)	11	Broad	ST6 beta-galactosamide			107450522		0.393	ENSG00000144057	14988	g.chr2:107450522G>A	growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity							-54.542324	KEEP	0	6	-1	136	169	0	6	-1	8.311611	136	169	0.020492	1	0	0	0	0	1	0	0	0	--	--		0	A			ST6GAL2_uc002tdr.2_Missense_Mutation_p.R342C|ST6GAL2_uc002tds.3_Missense_Mutation_p.R342C	251	GBM-41-2572-TP	p.R342C	G	TTAATGATGCGTATGGTGGTT	NM_001142351	NP_001135823	107450522	Q96JF0	SIAT2_HUMAN	0			3	1143	-	A	A			Missense_Mutation	342			Lumenal (Potential).			
ST6GAL2	0	broad.mit.edu	GRCh37	2	107460197	107460197	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-87-5896-01	TCGA-87-5896-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361686.4:c.237G>A	p.Ala79=	p.A79=	ENST00000361686	NM_032528.2	79	gcG/gcA	0			1			T	A	uc002tdq.2	protein_coding		CCDS2073.1			237/1590								p.A79V(1)	pancreas(6)|ovary(4)|skin(1)	11	c.(235-237)GCG>GCA			hmmpanther:PTHR13713,hmmpanther:PTHR13713:SF48	ST6 beta-galactosamide				ENSP00000355273		6-Feb									COSM247611,COSM3406753	6-Feb	.		ENST00000361686	Transcript			growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	ENSG00000144057	g.chr2:107460197C>T	10861			LOW								--	--	1																																		ST6GAL2_uc002tdr.2_Silent_p.A79A|ST6GAL2_uc002tds.3_Silent_p.A79A	1,1				p.A79A	NM_001142351	NP_001135823			1,1	SIAT2_HUMAN	ST6GAL2	HGNC	Q96JF0	SIAT2_HUMAN			C9JIK2_HUMAN,C4N9P8_HUMAN		2	356	-			UPI000007477B	79			Lumenal (Potential).		SNV	ST6GAL2,synonymous_variant,p.=,ENST00000409382,NM_001142351.1;ST6GAL2,synonymous_variant,p.=,ENST00000361686,NM_032528.2;ST6GAL2,synonymous_variant,p.=,ENST00000409087,NM_001142352.1;ST6GAL2,downstream_gene_variant,,ENST00000419159,;AC016994.2,downstream_gene_variant,,ENST00000425419,;	uc002tdq.2	c.237G>A	426/6857	2	2			c.237G>A						2	SNP	c.(235-237)GCG>GCA	17	17		p.A79V(1)	pancreas(6)|ovary(4)|skin(1)	11	Broad	ST6 beta-galactosamide			107460197		0.657	ENSG00000144057	14988	g.chr2:107460197C>T	growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity							61.004391	KEEP	15	9	-1	5	10	15	9	-1	61.235775	5	10	0.588235	1	0	0	0	0	0	0	1	0	--	--		0	T			ST6GAL2_uc002tdr.2_Silent_p.A79A|ST6GAL2_uc002tds.3_Silent_p.A79A	291	GBM-87-5896-TP	p.A79A	C	CGCGGGGCAGCGCCTGGCGTG	NM_001142351	NP_001135823	107460197	Q96JF0	SIAT2_HUMAN	0			2	356	-	T	T			Silent	79			Lumenal (Potential).			
ST6GAL2	84620		GRCh37	2	107460088	107460088	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000409382.3:c.346G>A	p.Val116Met	p.V116M	ENST00000409382	NM_001142351.1	116	Gtg/Atg	0																																																																																																																																																																																																																																												
ST6GALNAC3	0	broad.mit.edu	GRCh37	1	76877752	76877752	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328299.3:c.273C>T	p.Gly91=	p.G91=	ENST00000328299	NM_152996.2	91	ggC/ggT	0			1			T	G	uc001dhh.2	protein_coding	YES	CCDS672.1			273/918									ovary(3)|skin(2)	5	c.(271-273)GGC>GGT			hmmpanther:PTHR13713,hmmpanther:PTHR13713:SF49,Pfam_domain:PF00777	sialyltransferase 7C isoform 1				ENSP00000329214		5-Mar									COSM3401010	5-Mar	.		ENST00000328299	Transcript			protein glycosylation	integral to Golgi membrane	sialyltransferase activity	ENSG00000184005	g.chr1:76877752C>T	19343			LOW								--	--	1																																		ST6GALNAC3_uc001dhg.3_Silent_p.G91G|ST6GALNAC3_uc010orh.1_Silent_p.G26G	1	1			p.G91G	NM_152996	NP_694541			1	SIA7C_HUMAN	ST6GALNAC3	HGNC	Q8NDV1	SIA7C_HUMAN					3	436	+			UPI000006F75A	91			Lumenal (Potential).		SNV	ST6GALNAC3,synonymous_variant,p.=,ENST00000328299,NM_152996.2;ST6GALNAC3,non_coding_transcript_exon_variant,,ENST00000464140,;	uc001dhh.2	c.273C>T	421/6861	1	1			c.273C>T						1	SNP	c.(271-273)GGC>GGT	8	8			ovary(3)|skin(2)	5	Broad	sialyltransferase 7C isoform 1			76877752		0.448	ENSG00000184005	14991	g.chr1:76877752C>T	protein glycosylation	integral to Golgi membrane	sialyltransferase activity							180.811784	KEEP	30	26	-1	6	7	30	26	-1	186.455964	6	7	0.80303	1	0	0	0	0	0	0	1	0	--	--		0	T			ST6GALNAC3_uc001dhg.3_Silent_p.G91G|ST6GALNAC3_uc010orh.1_Silent_p.G26G	159	GBM-19-1390-TP	p.G91G	C	AGATGGTTGGCCAGAAGGTGG	NM_152996	NP_694541	76877752	Q8NDV1	SIA7C_HUMAN	0			3	436	+	T	T			Silent	91			Lumenal (Potential).			
ST6GALNAC4	0	broad.mit.edu	GRCh37	9	130670779	130670779	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-5211-01	TCGA-28-5211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335791.5:c.801G>A	p.Glu267=	p.E267=	ENST00000335791	NM_175039.3	267	gaG/gaA	0			1			T	E	uc004bss.2	protein_coding	YES	CCDS6883.1			801/909										0	c.(799-801)GAG>GAA			hmmpanther:PTHR13713:SF35,hmmpanther:PTHR13713,Pfam_domain:PF00777	sialyltransferase 7D isoform a				ENSP00000336733		6-Jun									COSM3413354	6-Jun	.		ENST00000335791	Transcript			glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity	ENSG00000136840	g.chr9:130670779C>T	17846			LOW								--	--	1																																		ST6GALNAC4_uc004bst.2_Silent_p.E183E	1	1			p.E267E	NM_175039	NP_778204			1	SIA7D_HUMAN	ST6GALNAC4	HGNC	Q9H4F1	SIA7D_HUMAN			A8K7N4_HUMAN,A6NJX0_HUMAN		6	1077	-			UPI0000001658	267			Lumenal (Potential).		SNV	ST6GALNAC4,synonymous_variant,p.=,ENST00000335791,NM_175039.3;ST6GALNAC4,synonymous_variant,p.=,ENST00000343609,NM_175040.3;ST6GALNAC4,synonymous_variant,p.=,ENST00000361444,;ST6GALNAC6,upstream_gene_variant,,ENST00000447681,;ST6GALNAC4,non_coding_transcript_exon_variant,,ENST00000495983,;ST6GALNAC4,non_coding_transcript_exon_variant,,ENST00000467674,;ST6GALNAC4,non_coding_transcript_exon_variant,,ENST00000474282,;ST6GALNAC4,downstream_gene_variant,,ENST00000483438,;ST6GALNAC6,upstream_gene_variant,,ENST00000494611,;ST6GALNAC6,upstream_gene_variant,,ENST00000483353,;	uc004bss.2	c.801G>A	1077/1691	2	2			c.801G>A						9	SNP	c.(799-801)GAG>GAA	35	35				0	Broad	sialyltransferase 7D isoform a			130670779		0.627	ENSG00000136840	14992	g.chr9:130670779C>T	glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity							10.191094	KEEP	6	4	-1	47	27	6	4	-1	19.520698	47	27	0.136986	1	0	0	0	0	0	0	1	0	--	--		0	T			ST6GALNAC4_uc004bst.2_Silent_p.E183E	219	GBM-28-5211-TP	p.E267E	C	GGGGCGCCTGCTCGTGTGCCA	NM_175039	NP_778204	130670779	Q9H4F1	SIA7D_HUMAN	0			6	1077	-	T	T			Silent	267			Lumenal (Potential).			
ST6GALNAC4	0	broad.mit.edu	GRCh37	9	130674960	130674960	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A			TCGA-41-3915-01	TCGA-41-3915-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335791.5:c.199-1G>T		p.X67_splice	ENST00000335791	NM_175039.3			0			1			A		uc004bss.2	protein_coding	YES	CCDS6883.1			199/909										0	c.e4-1				sialyltransferase 7D isoform a				ENSP00000336733											COSM3413355		.		ENST00000335791	Transcript			glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity	ENSG00000136840	g.chr9:130674960C>A	17846			HIGH	5-Mar							--	--	1																																		ST6GALNAC4_uc004bst.2_Splice_Site	1	1			p.P67_splice	NM_175039	NP_778204			1	SIA7D_HUMAN	ST6GALNAC4	HGNC	Q9H4F1	SIA7D_HUMAN			A8K7N4_HUMAN,A6NJX0_HUMAN		4	475	-			UPI0000001658						SNV	ST6GALNAC4,splice_acceptor_variant,,ENST00000335791,NM_175039.3;ST6GALNAC4,splice_acceptor_variant,,ENST00000343609,NM_175040.3;ST6GALNAC4,splice_acceptor_variant,,ENST00000361444,;ST6GALNAC4,splice_acceptor_variant,,ENST00000495983,;ST6GALNAC4,splice_acceptor_variant,,ENST00000483438,;ST6GALNAC4,intron_variant,,ENST00000467674,;ST6GALNAC4,downstream_gene_variant,,ENST00000479747,;ST6GALNAC4,upstream_gene_variant,,ENST00000474282,;	uc004bss.2	c.199_splice	-/1691	5	2			c.199_splice						9	SNP	c.e4-1	44	44				0	Broad	sialyltransferase 7D isoform a			130674960		0.632	ENSG00000136840	14992	g.chr9:130674960C>A	glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity							27.875966	KEEP	6	4	0.4	6	3	6	4	0.4	27.930273	6	3	0.5625	1	0	0	0	0	0	0	0	1	--	--		0	A			ST6GALNAC4_uc004bst.2_Splice_Site	256	GBM-41-3915-TP	p.P67_splice	C	GGACCAGCGGCTGCAGGGCAG	NM_175039	NP_778204	130674960	Q9H4F1	SIA7D_HUMAN	0			4	475	-	A	A			Splice_Site							
ST6GALNAC6	0	broad.mit.edu	GRCh37	9	130653179	130653179	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-19-4068-01	TCGA-19-4068-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000291839.5:c.441G>T	p.Val147=	p.V147=	ENST00000291839		147	gtG/gtT	0			1			A	V	uc004bso.1	protein_coding		CCDS6882.1			441/1002										0	c.(439-441)GTG>GTT			Pfam_domain:PF00777,hmmpanther:PTHR13713:SF45,hmmpanther:PTHR13713	sialytransferase 7F				ENSP00000291839		6-Apr									COSM3413353	6-Apr	.		ENST00000291839	Transcript			protein glycosylation	integral to Golgi membrane|plasma membrane		ENSG00000160408	g.chr9:130653179C>A	23364			LOW								--	--	1																																		ST6GALNAC6_uc004bsn.1_Silent_p.V113V|ST6GALNAC6_uc011man.1_Intron|ST6GALNAC6_uc004bsp.1_Silent_p.V147V|ST6GALNAC6_uc004bsq.1_Silent_p.V113V|ST6GALNAC6_uc004bsr.2_Silent_p.V113V|ST6GALNAC6_uc010mxp.1_RNA	1				p.V147V	NM_013443	NP_038471			1	SIA7F_HUMAN	ST6GALNAC6	HGNC	Q969X2	SIA7F_HUMAN					5	560	-			UPI0000073734	147			Lumenal (Potential).		SNV	ST6GALNAC6,synonymous_variant,p.=,ENST00000373146,;ST6GALNAC6,synonymous_variant,p.=,ENST00000373142,NM_013443.3,NM_001286999.1;ST6GALNAC6,synonymous_variant,p.=,ENST00000373141,NM_001287002.1,NM_001287001.1;ST6GALNAC6,synonymous_variant,p.=,ENST00000373144,NM_001287000.1;ST6GALNAC6,synonymous_variant,p.=,ENST00000291839,;ST6GALNAC6,synonymous_variant,p.=,ENST00000447681,;ST6GALNAC6,intron_variant,,ENST00000542456,;ST6GALNAC6,non_coding_transcript_exon_variant,,ENST00000485320,;ST6GALNAC6,non_coding_transcript_exon_variant,,ENST00000480417,;ST6GALNAC6,non_coding_transcript_exon_variant,,ENST00000494541,;ST6GALNAC6,intron_variant,,ENST00000463086,;RP11-203J24.9,upstream_gene_variant,,ENST00000476274,;ST6GALNAC6,downstream_gene_variant,,ENST00000481355,;ST6GALNAC6,downstream_gene_variant,,ENST00000478319,;	uc004bso.1	c.441G>T	472/2310	2	2			c.441G>T						9	SNP	c.(439-441)GTG>GTT	33	33				0	Broad	sialytransferase 7F			130653179		0.607	ENSG00000160408	14994	g.chr9:130653179C>A	protein glycosylation	integral to Golgi membrane|plasma membrane								-5.337235	KEEP	3	3	0.5	44	33	3	3	0.5	8.234287	44	33	0.059701	1	0	0	0	0	0	0	1	0	--	--		0	A			ST6GALNAC6_uc004bsn.1_Silent_p.V113V|ST6GALNAC6_uc011man.1_Intron|ST6GALNAC6_uc004bsp.1_Silent_p.V147V|ST6GALNAC6_uc004bsq.1_Silent_p.V113V|ST6GALNAC6_uc004bsr.2_Silent_p.V113V|ST6GALNAC6_uc010mxp.1_RNA	168	GBM-19-4068-TP	p.V147V	C	TCTTGTTGCCCACATCAGCTG	NM_013443	NP_038471	130653179	Q969X2	SIA7F_HUMAN	0			5	560	-	A	A			Silent	147			Lumenal (Potential).			
ST8SIA1	0	broad.mit.edu	GRCh37	12	22354787	22354787	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01	TCGA-19-5955-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396037.4:c.770G>A	p.Arg257His	p.R257H	ENST00000396037	NM_003034.3	257	cGt/cAt	0			1			T	R/H	uc001rfo.3	protein_coding	YES	CCDS8697.1			770/1071									ovary(3)	3	c.(769-771)CGT>CAT			Pfam_domain:PF00777,PIRSF_domain:PIRSF005557,hmmpanther:PTHR11987,hmmpanther:PTHR11987:SF3	alpha-2,8-sialyltransferase 1				ENSP00000379353		5-May	9.88E-05	0.000192	8.69E-05			6.00E-05		0.000303	rs745747495,COSM3398620	5-May	.		ENST00000396037	Transcript			glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	ENSG00000111728	g.chr12:22354787C>T	10869			MODERATE		1.3	low	getma.org/?cm=msa&ty=f&p=SIA8A_HUMAN&rb=87&re=346&var=R257H	getma.org/pdb.php?prot=SIA8A_HUMAN&from=87&to=346&var=R257H	getma.org/?cm=var&var=hg19,12,22354787,C,T&fts=all	R257H	--	--	1																																		ST8SIA1_uc009zix.2_Missense_Mutation_p.R114H	0,1	1		benign(0.083)	p.R257H	NM_003034	NP_003025		tolerated(0.16)	0,1	SIA8A_HUMAN	ST8SIA1	HGNC	Q92185	SIA8A_HUMAN			H0YFU1_HUMAN		5	1252	-			UPI000013596F	257			Lumenal (Potential).		SNV	ST8SIA1,missense_variant,p.Arg257His,ENST00000396037,NM_003034.3;ST8SIA1,missense_variant,p.Arg114His,ENST00000539510,;ST8SIA1,downstream_gene_variant,,ENST00000540824,;ST8SIA1,non_coding_transcript_exon_variant,,ENST00000545494,;ST8SIA1,non_coding_transcript_exon_variant,,ENST00000508924,;ST8SIA1,intron_variant,,ENST00000545524,;ST8SIA1,intron_variant,,ENST00000544732,;ST8SIA1,3_prime_UTR_variant,,ENST00000261197,;	uc001rfo.3	c.770G>A	1252/9714	2	2			c.770G>A						12	SNP	c.(769-771)CGT>CAT	47	47			ovary(3)	3	Broad	alpha-2,8-sialyltransferase 1			22354787		0.478	ENSG00000111728	14997	g.chr12:22354787C>T	glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity							41.809158	KEEP	6	17	-1	42	67	6	17	-1	53.976081	42	67	0.173554	1	0	0	0	0	1	0	0	0	--	--		0	T			ST8SIA1_uc009zix.2_Missense_Mutation_p.R114H	175	GBM-19-5955-TP	p.R257H	C	TCCAATGCTACGCAGAAAGTT	NM_003034	NP_003025	22354787	Q92185	SIA8A_HUMAN	0			5	1252	-	T	T			Missense_Mutation	257			Lumenal (Potential).			
ST8SIA3	0	broad.mit.edu	GRCh37	18	55024414	55024414	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-1034-01	TCGA-14-1034-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324000.3:c.573C>T	p.Phe191=	p.F191=	ENST00000324000	NM_015879.2	191	ttC/ttT	0	T:0		1			T	F	uc002lgn.2	protein_coding	YES	CCDS32834.1			573/1143									breast(1)|skin(1)	2	c.(571-573)TTC>TTT			Pfam_domain:PF00777,PIRSF_domain:PIRSF005557,hmmpanther:PTHR11987,hmmpanther:PTHR11987:SF33	ST8 alpha-N-acetyl-neuraminide			T:0.0001	ENSP00000320431		4-Mar	4.12E-05			0.000232				0.000182	rs376754702,COSM709293	4-Mar	.		ENST00000324000	Transcript			glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	ENSG00000177511	g.chr18:55024414C>T	14269			LOW								--	--	1																																			0,1	1			p.F191F	NM_015879	NP_056963			0,1	SIA8C_HUMAN	ST8SIA3	HGNC	O43173	SIA8C_HUMAN		READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)	Q59GW3_HUMAN		3	930	+			UPI000014126D	191			Lumenal (Potential).		SNV	ST8SIA3,synonymous_variant,p.=,ENST00000324000,NM_015879.2;ST8SIA3,synonymous_variant,p.=,ENST00000586360,;	uc002lgn.2	c.573C>T	2607/11833	2	2			c.573C>T						18	SNP	c.(571-573)TTC>TTT	25	25			breast(1)|skin(1)	2	Broad	ST8 alpha-N-acetyl-neuraminide			55024414		0.403	ENSG00000177511	14999	g.chr18:55024414C>T	glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity							141.638659	KEEP	29	31	-1	56	86	29	31	-1	149.129869	56	86	0.285714	1	0	0	0	0	0	0	1	0	--	--		0	T				142	GBM-14-1034-TP	p.F191F	C	GTTGCAATTTCGCCCCTACGG	NM_015879	NP_056963	55024414	O43173	SIA8C_HUMAN	0		READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)	3	930	+	T	T			Silent	191			Lumenal (Potential).			
ST8SIA5	0	broad.mit.edu	GRCh37	18	44260326	44260326	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-1395-01	TCGA-14-1395-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315087.7:c.810G>A	p.Ser270=	p.S270=	ENST00000315087	NM_013305.4	270	tcG/tcA	0	A:0.0002	T:0	1	T:0		T	S	uc002lcj.1	protein_coding	YES	CCDS11930.1			810/1131									upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3	c.(808-810)TCG>TCA			hmmpanther:PTHR11987,hmmpanther:PTHR11987:SF4,Pfam_domain:PF00777,PIRSF_domain:PIRSF005557	ST8 alpha-N-acetyl-neuraminide		T:0	A:0.0002	ENSP00000321343	T:0	7-Jul	8.24E-06							6.17E-05	rs370410407,COSM3403545	7-Jul	.		ENST00000315087	Transcript		T:0.0002	glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		ENSG00000101638	g.chr18:44260326C>T	17827			LOW								--	--	1																																		ST8SIA5_uc002lci.1_Silent_p.S117S|ST8SIA5_uc010xcy.1_Silent_p.S306S|ST8SIA5_uc010xcz.1_Silent_p.S239S	0,1	1			p.S270S	NM_013305	NP_037437	T:0.001		0,1	SIA8E_HUMAN	ST8SIA5	HGNC	O15466	SIA8E_HUMAN			B3KSU2_HUMAN		7	1378	-			UPI000013C72F	270			Lumenal (Potential).		SNV	ST8SIA5,synonymous_variant,p.=,ENST00000315087,NM_013305.4;ST8SIA5,synonymous_variant,p.=,ENST00000538168,;ST8SIA5,synonymous_variant,p.=,ENST00000536490,;ST8SIA5,non_coding_transcript_exon_variant,,ENST00000590497,;ST8SIA5,downstream_gene_variant,,ENST00000587428,;	uc002lcj.1	c.810G>A	1471/2716	1	1			c.810G>A						18	SNP	c.(808-810)TCG>TCA	15	15			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3	Broad	ST8 alpha-N-acetyl-neuraminide			44260326		0.617	ENSG00000101638	15001	g.chr18:44260326C>T	glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane								44.230226	KEEP	8	7	-1	12	6	8	7	-1	44.236788	12	6	0.483871	1	0	0	0	0	0	0	1	0	--	--		0	T			ST8SIA5_uc002lci.1_Silent_p.S117S|ST8SIA5_uc010xcy.1_Silent_p.S306S|ST8SIA5_uc010xcz.1_Silent_p.S239S	144	GBM-14-1395-TP	p.S270S	C	CAGCTTGCGGCGATTCGAAGT	NM_013305	NP_037437	44260326	O15466	SIA8E_HUMAN	0			7	1378	-	T	T			Silent	270			Lumenal (Potential).			
ST8SIA5	0	broad.mit.edu	GRCh37	18	44260035	44260035	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4928-01	TCGA-76-4928-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315087.7:c.1101C>T	p.Arg367=	p.R367=	ENST00000315087	NM_013305.4	367	cgC/cgT	0			1			A	R	uc002lcj.1	protein_coding	YES	CCDS11930.1			1101/1131									upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3	c.(1099-1101)CGC>CGT			hmmpanther:PTHR11987,hmmpanther:PTHR11987:SF4,Pfam_domain:PF00777,PIRSF_domain:PIRSF005557	ST8 alpha-N-acetyl-neuraminide				ENSP00000321343		7-Jul									COSM3403544	7-Jul	.		ENST00000315087	Transcript			glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		ENSG00000101638	g.chr18:44260035G>A	17827			LOW								--	--	1																																		ST8SIA5_uc002lci.1_Silent_p.R214R|ST8SIA5_uc010xcy.1_Silent_p.R403R|ST8SIA5_uc010xcz.1_Silent_p.R336R	1	1			p.R367R	NM_013305	NP_037437			1	SIA8E_HUMAN	ST8SIA5	HGNC	O15466	SIA8E_HUMAN			B3KSU2_HUMAN		7	1669	-			UPI000013C72F	367			Lumenal (Potential).		SNV	ST8SIA5,synonymous_variant,p.=,ENST00000315087,NM_013305.4;ST8SIA5,synonymous_variant,p.=,ENST00000538168,;ST8SIA5,synonymous_variant,p.=,ENST00000536490,;ST8SIA5,non_coding_transcript_exon_variant,,ENST00000590497,;ST8SIA5,downstream_gene_variant,,ENST00000587428,;	uc002lcj.1	c.1101C>T	1762/2716	1	1			c.1101C>T						18	SNP	c.(1099-1101)CGC>CGT	64	64			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3	Broad	ST8 alpha-N-acetyl-neuraminide			44260035		0.652	ENSG00000101638	15001	g.chr18:44260035G>A	glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane								23.199983	KEEP	8	12	-1	34	31	8	12	-1	26.618268	34	31	0.22449	1	0	0	0	0	0	0	1	0	--	--		0	A			ST8SIA5_uc002lci.1_Silent_p.R214R|ST8SIA5_uc010xcy.1_Silent_p.R403R|ST8SIA5_uc010xcz.1_Silent_p.R336R	268	GBM-76-4928-TP	p.R367R	G	CCGTGTGCACGCGGAGGATGC	NM_013305	NP_037437	44260035	O15466	SIA8E_HUMAN	0			7	1669	-	A	A			Silent	367			Lumenal (Potential).			
ST8SIA6	0	broad.mit.edu	GRCh37	10	17363244	17363244	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01	TCGA-74-6573-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377602.4:c.830C>T	p.Thr277Met	p.T277M	ENST00000377602	NM_001004470.1	277	aCg/aTg	0			1			A	T/M	uc001ipd.2	protein_coding	YES	CCDS31158.1			830/1197									ovary(1)	1	c.(829-831)ACG>ATG			Pfam_domain:PF00777,PIRSF_domain:PIRSF005557,hmmpanther:PTHR11987,hmmpanther:PTHR11987:SF29	ST8 alpha-N-acetyl-neuraminide				ENSP00000366827		8-Aug	9.06E-05	9.84E-05	0.000781	0.000116					rs748029727,COSM3397028,COSM3397029	8-Aug	common_variant		ENST00000377602	Transcript			post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	ENSG00000148488	g.chr10:17363244G>A	23317			MODERATE		2.375	medium	getma.org/?cm=msa&ty=f&p=SIA8F_HUMAN&rb=134&re=394&var=T277M	getma.org/pdb.php?prot=SIA8F_HUMAN&from=134&to=394&var=T277M	getma.org/?cm=var&var=hg19,10,17363244,G,A&fts=all	T277M	--	--	1																																		ST8SIA6_uc010qce.1_RNA	0,1,1	1		probably_damaging(0.967)	p.T277M	NM_001004470	NP_001004470		deleterious(0)	0,1,1	SIA8F_HUMAN	ST8SIA6	HGNC	P61647	SIA8F_HUMAN					8	830	-			UPI0000359594	277			Lumenal (Potential).		SNV	ST8SIA6,missense_variant,p.Thr277Met,ENST00000377602,NM_001004470.1;ST8SIA6,missense_variant,p.Thr98Met,ENST00000440449,;	uc001ipd.2	c.830C>T	905/2276	1	1			c.830C>T						10	SNP	c.(829-831)ACG>ATG	64	64			ovary(1)	1	Broad	ST8 alpha-N-acetyl-neuraminide			17363244		0.418	ENSG00000148488	15002	g.chr10:17363244G>A	post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity							182.565748	KEEP	31	34	-1	19	19	31	34	-1	183.812348	19	19	0.623656	1	0	0	0	0	1	0	0	0	--	--		0	A			ST8SIA6_uc010qce.1_RNA	260	GBM-74-6573-TP	p.T277M	G	AGAGGTACCCGTGTTGGCCCT	NM_001004470	NP_001004470	17363244	P61647	SIA8F_HUMAN	0			8	830	-	A	A			Missense_Mutation	277			Lumenal (Potential).			
STAB1	23166	broad.mit.edu	GRCh37	3	52551965	52551965	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0210-01	TCGA-06-0210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321725.6:c.4707C>T	p.Cys1569=	p.C1569=	ENST00000321725	NM_015136.2	1569	tgC/tgT	0	T:0		1			T	C	uc003dej.2	protein_coding	YES	CCDS33768.1			4707/7713									large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9	c.(4705-4707)TGC>TGT			Superfamily_domains:SSF57196,SMART_domains:SM00181,Gene3D:2.10.25.10,hmmpanther:PTHR24038:SF2,hmmpanther:PTHR24038,PROSITE_profiles:PS50026	stabilin 1 precursor			T:0.0001	ENSP00000312946		45/69	2.47E-05					4.61E-05			rs375629208,COSM3408795	45/69	.		ENST00000321725	Transcript			cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	ENSG00000010327	g.chr3:52551965C>T	18628			LOW								--	--	1																																		STAB1_uc003dek.1_5'Flank	0,1	1			p.C1569C	NM_015136	NP_055951			0,1	STAB1_HUMAN	STAB1	HGNC	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)			45	4781	+			UPI0000140C12	1569			Extracellular (Potential).|EGF-like 13.		SNV	STAB1,synonymous_variant,p.=,ENST00000321725,NM_015136.2;STAB1,non_coding_transcript_exon_variant,,ENST00000461325,;STAB1,upstream_gene_variant,,ENST00000481626,;STAB1,upstream_gene_variant,,ENST00000462741,;STAB1,upstream_gene_variant,,ENST00000462681,;	uc003dej.2	c.4707C>T	4783/7928	2	2			c.4707C>T						3	SNP	c.(4705-4707)TGC>TGT	45	45			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9	Broad	stabilin 1 precursor			52551965		0.602	ENSG00000010327	15003	g.chr3:52551965C>T	cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity							59.724077	KEEP	16	15	-1	63	73	16	15	-1	73.945427	63	73	0.192547	1	0	0	0	0	0	0	1	0	--	--		0	T			STAB1_uc003dek.1_5'Flank	47	GBM-06-0210-TP	p.C1569C	C	CATGTACCTGCGACACAGCCC	NM_015136	NP_055951	52551965	Q9NY15	STAB1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	45	4781	+	T	T			Silent	1569			Extracellular (Potential).|EGF-like 13.			
STAB1	23166	broad.mit.edu	GRCh37	3	52543899	52543899	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0882-01	TCGA-06-0882-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321725.6:c.2361C>T	p.Val787=	p.V787=	ENST00000321725	NM_015136.2	787	gtC/gtT	0			1			T	V	uc003dej.2	protein_coding	YES	CCDS33768.1			2361/7713									large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9	c.(2359-2361)GTC>GTT			SMART_domains:SM00181,Gene3D:2gy5A03,hmmpanther:PTHR24038:SF2,hmmpanther:PTHR24038	stabilin 1 precursor				ENSP00000312946		23/69									COSM2152378	23/69	.		ENST00000321725	Transcript			cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	ENSG00000010327	g.chr3:52543899C>T	18628			LOW								--	--	1																																			1	1			p.V787V	NM_015136	NP_055951			1	STAB1_HUMAN	STAB1	HGNC	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)			23	2435	+			UPI0000140C12	787			Extracellular (Potential).		SNV	STAB1,synonymous_variant,p.=,ENST00000321725,NM_015136.2;STAB1,downstream_gene_variant,,ENST00000481607,;STAB1,downstream_gene_variant,,ENST00000484850,;	uc003dej.2	c.2361C>T	2437/7928	2	2			c.2361C>T						3	SNP	c.(2359-2361)GTC>GTT	33	33			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9	Broad	stabilin 1 precursor			52543899		0.632	ENSG00000010327	15003	g.chr3:52543899C>T	cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity							64.255272	KEEP	17	11	-1	36	35	17	11	-1	67.47195	36	35	0.294118	1	0	0	0	0	0	0	1	0	--	--		0	T				77	GBM-06-0882-TP	p.V787V	C	GCGGCTGTGTCCATGGTCTCT	NM_015136	NP_055951	52543899	Q9NY15	STAB1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	23	2435	+	T	T			Silent	787			Extracellular (Potential).			
STAB1	23166	broad.mit.edu	GRCh37	3	52550236	52550236	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2558-01	TCGA-06-2558-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321725.6:c.4126G>A	p.Gly1376Arg	p.G1376R	ENST00000321725	NM_015136.2	1376	Ggg/Agg	0			1			A	G/R	uc003dej.2	protein_coding	YES	CCDS33768.1			4126/7713									large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9	c.(4126-4128)GGG>AGG			SMART_domains:SM00180,Gene3D:2gy5A03,PROSITE_patterns:PS01248,hmmpanther:PTHR24038:SF2,hmmpanther:PTHR24038,PROSITE_profiles:PS50026	stabilin 1 precursor				ENSP00000312946		38/69	4.13E-05		8.75E-05			6.21E-05			rs771020403,COSM2152594	38/69	.		ENST00000321725	Transcript			cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	ENSG00000010327	g.chr3:52550236G>A	18628			MODERATE		3.17	medium	getma.org/?cm=msa&ty=f&p=STAB1_HUMAN&rb=1327&re=1392&var=G1376R	NA	getma.org/?cm=var&var=hg19,3,52550236,G,A&fts=all	G1376R	--	--	1																																		STAB1_uc003dek.1_5'Flank	0,1	1		probably_damaging(1)	p.G1376R	NM_015136	NP_055951		deleterious(0)	0,1	STAB1_HUMAN	STAB1	HGNC	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)			38	4200	+			UPI0000140C12	1376			Laminin EGF-like 1.|Extracellular (Potential).		SNV	STAB1,missense_variant,p.Gly1376Arg,ENST00000321725,NM_015136.2;STAB1,non_coding_transcript_exon_variant,,ENST00000461325,;STAB1,upstream_gene_variant,,ENST00000481626,;	uc003dej.2	c.4126G>A	4202/7928	2	2			c.4126G>A						3	SNP	c.(4126-4128)GGG>AGG	36	36			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9	Broad	stabilin 1 precursor			52550236		0.697	ENSG00000010327	15003	g.chr3:52550236G>A	cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity							74.893149	KEEP	14	16	-1	14	22	14	16	-1	75.038326	14	22	0.444444	1	0	0	0	0	1	0	0	0	--	--		0	A			STAB1_uc003dek.1_5'Flank	82	GBM-06-2558-TP	p.G1376R	G	GGGCCGCTACGGGCCCAACTG	NM_015136	NP_055951	52550236	Q9NY15	STAB1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	38	4200	+	A	A			Missense_Mutation	1376			Laminin EGF-like 1.|Extracellular (Potential).			
STAB1	0	broad.mit.edu	GRCh37	3	52540233	52540233	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1970-01	TCGA-32-1970-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321725.6:c.1797G>A	p.Ala599=	p.A599=	ENST00000321725	NM_015136.2	599	gcG/gcA	0			1			A	A	uc003dej.2	protein_coding	YES	CCDS33768.1			1797/7713									large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9	c.(1795-1797)GCG>GCA			Superfamily_domains:SSF82153,SMART_domains:SM00554,Pfam_domain:PF02469,Gene3D:2.30.180.10,hmmpanther:PTHR24038:SF2,hmmpanther:PTHR24038,PROSITE_profiles:PS50213	stabilin 1 precursor				ENSP00000312946		17/69	1.65E-05							0.000145	rs778673205,COSM170879	17/69	.		ENST00000321725	Transcript			cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	ENSG00000010327	g.chr3:52540233G>A	18628			LOW								--	--	1																																		STAB1_uc003dei.1_Silent_p.A599A	0,1	1			p.A599A	NM_015136	NP_055951			0,1	STAB1_HUMAN	STAB1	HGNC	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)			17	1871	+			UPI0000140C12	599			Extracellular (Potential).|FAS1 2.		SNV	STAB1,synonymous_variant,p.=,ENST00000321725,NM_015136.2;STAB1,non_coding_transcript_exon_variant,,ENST00000481607,;STAB1,downstream_gene_variant,,ENST00000479355,;STAB1,upstream_gene_variant,,ENST00000484850,;	uc003dej.2	c.1797G>A	1873/7928	1	1			c.1797G>A						3	SNP	c.(1795-1797)GCG>GCA	62	62			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9	Broad	stabilin 1 precursor			52540233		0.622	ENSG00000010327	15003	g.chr3:52540233G>A	cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity							21.990413	KEEP	7	3	-1	11	10	7	3	-1	22.84749	11	10	0.307692	1	0	0	0	0	0	0	1	0	--	--		0	A			STAB1_uc003dei.1_Silent_p.A599A	228	GBM-32-1970-TP	p.A599A	G	TCACCATGGCGAACCAGGTCC	NM_015136	NP_055951	52540233	Q9NY15	STAB1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	17	1871	+	A	A			Silent	599			Extracellular (Potential).|FAS1 2.			
STAB1	0	broad.mit.edu	GRCh37	3	52540843	52540843	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321725.6:c.1966G>A	p.Glu656Lys	p.E656K	ENST00000321725	NM_015136.2	656	Gag/Aag	0	A:0.0002	A:0	1	A:0		A	E/K	uc003dej.2	protein_coding	YES	CCDS33768.1			1966/7713									large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9	c.(1966-1968)GAG>AAG			hmmpanther:PTHR24038:SF2,hmmpanther:PTHR24038	stabilin 1 precursor		A:0.002	A:0	ENSP00000312946	A:0	18/69	8.24E-05			0.000698		1.53E-05		0.000183	rs371539004,COSM3408794	18/69	common_variant		ENST00000321725	Transcript		A:0.0004	cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	ENSG00000010327	g.chr3:52540843G>A	18628			MODERATE		0.605	neutral	getma.org/?cm=msa&ty=f&p=STAB1_HUMAN&rb=644&re=843&var=E656K	NA	getma.org/?cm=var&var=hg19,3,52540843,G,A&fts=all	E656K	--	--	1																																		STAB1_uc003dei.1_Missense_Mutation_p.E656K	0,1	1		benign(0.063)	p.E656K	NM_015136	NP_055951	A:0	tolerated(0.28)	0,1	STAB1_HUMAN	STAB1	HGNC	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)			18	2040	+			UPI0000140C12	656			Extracellular (Potential).		SNV	STAB1,missense_variant,p.Glu656Lys,ENST00000321725,NM_015136.2;STAB1,non_coding_transcript_exon_variant,,ENST00000481607,;STAB1,upstream_gene_variant,,ENST00000484850,;	uc003dej.2	c.1966G>A	2042/7928	2	2			c.1966G>A						3	SNP	c.(1966-1968)GAG>AAG	26	26			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9	Broad	stabilin 1 precursor			52540843		0.642	ENSG00000010327	15003	g.chr3:52540843G>A	cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity							71.120243	KEEP	20	16	-1	30	38	20	16	-1	73.448616	30	38	0.316456	1	0	0	0	0	1	0	0	0	--	--		0	A			STAB1_uc003dei.1_Missense_Mutation_p.E656K	240	GBM-32-2632-TP	p.E656K	G	GCACTGCAGCGAGGAGCAGCA	NM_015136	NP_055951	52540843	Q9NY15	STAB1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	18	2040	+	A	A			Missense_Mutation	656			Extracellular (Potential).			
STAB2	55576	broad.mit.edu	GRCh37	12	104089589	104089589	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0155-01	TCGA-06-0155-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388887.2:c.3549G>T	p.Glu1183Asp	p.E1183D	ENST00000388887	NM_017564.9	1183	gaG/gaT	0			1			T	E/D	uc001tjw.2	protein_coding	YES	CCDS31888.1			3549/7656									ovary(9)|skin(5)	14	c.(3547-3549)GAG>GAT			PROSITE_profiles:PS50213,hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038,Pfam_domain:PF02469,Gene3D:2.30.180.10,SMART_domains:SM00554,Superfamily_domains:SSF82153	stabilin 2 precursor				ENSP00000373539		33/69									COSM2149963	33/69	.		ENST00000388887	Transcript			angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	ENSG00000136011	g.chr12:104089589G>T	18629			MODERATE		1.335	low	getma.org/?cm=msa&ty=f&p=STAB2_HUMAN&rb=1148&re=1267&var=E1183D	NA	getma.org/?cm=var&var=hg19,12,104089589,G,T&fts=all	E1183D	--	--	1																																			1	1		benign(0.174)	p.E1183D	NM_017564	NP_060034		deleterious(0.02)	1	STAB2_HUMAN	STAB2	HGNC	Q8WWQ8	STAB2_HUMAN			H0YIF3_HUMAN		33	3735	+			UPI00001ADDF4	1183			Extracellular (Potential).|FAS1 4.		SNV	STAB2,missense_variant,p.Glu1183Asp,ENST00000388887,NM_017564.9;	uc001tjw.2	c.3549G>T	3753/8251	1	1			c.3549G>T						12	SNP	c.(3547-3549)GAG>GAT	7	7			ovary(9)|skin(5)	14	Broad	stabilin 2 precursor			104089589		0.403	ENSG00000136011	15004	g.chr12:104089589G>T	angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity							118.389192	KEEP	20	27	0.425531915	33	51	20	27	0.425531915	119.997168	33	51	0.373913	1	0	0	0	0	1	0	0	0	--	--		0	T				27	GBM-06-0155-TP	p.E1183D	G	ATGCCATCGAGAATTACATCA	NM_017564	NP_060034	104089589	Q8WWQ8	STAB2_HUMAN	0			33	3735	+	T	T			Missense_Mutation	1183			Extracellular (Potential).|FAS1 4.			
STAB2	55576	broad.mit.edu	GRCh37	12	104014256	104014256	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-06-0749-01	TCGA-06-0749-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388887.2:c.342T>G	p.Gly114=	p.G114=	ENST00000388887	NM_017564.9	114	ggT/ggG	0			1			G	G	uc001tjw.2	protein_coding	YES	CCDS31888.1			342/7656									ovary(9)|skin(5)	14	c.(340-342)GGT>GGG			PROSITE_profiles:PS50026,hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038,Gene3D:2gy5A03,SMART_domains:SM00181	stabilin 2 precursor				ENSP00000373539		Apr-69									COSM3747908	Apr-69	.		ENST00000388887	Transcript			angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	ENSG00000136011	g.chr12:104014256T>G	18629			LOW								--	--	1																																			1	1			p.G114G	NM_017564	NP_060034			1	STAB2_HUMAN	STAB2	HGNC	Q8WWQ8	STAB2_HUMAN			H0YIF3_HUMAN		4	528	+			UPI00001ADDF4	114			Extracellular (Potential).|EGF-like 1.		SNV	STAB2,synonymous_variant,p.=,ENST00000388887,NM_017564.9;	uc001tjw.2	c.342T>G	546/8251	3	3			c.342T>G						12	SNP	c.(340-342)GGT>GGG	14	14			ovary(9)|skin(5)	14	Broad	stabilin 2 precursor			104014256		0.493	ENSG00000136011	15004	g.chr12:104014256T>G	angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity							14.46221	KEEP	5	1	-1	17	9	5	1	-1	16.553296	17	9	0.2	1	0	0	0	0	0	0	1	0	--	--		0	G				69	GBM-06-0749-TP	p.G114G	T	AGTGCCCAGGTGGAGCGGGGT	NM_017564	NP_060034	104014256	Q8WWQ8	STAB2_HUMAN	0			4	528	+	G	G			Silent	114			Extracellular (Potential).|EGF-like 1.			
STAB2	0	broad.mit.edu	GRCh37	12	104147041	104147041	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2494-01	TCGA-32-2494-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388887.2:c.6624G>A	p.Gln2208=	p.Q2208=	ENST00000388887	NM_017564.9	2208	caG/caA	0			1			A	Q	uc001tjw.2	protein_coding	YES	CCDS31888.1			6624/7656									ovary(9)|skin(5)	14	c.(6622-6624)CAG>CAA			PROSITE_profiles:PS50963,hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038,Gene3D:3.10.100.10,Pfam_domain:PF00193,SMART_domains:SM00445,Superfamily_domains:SSF56436	stabilin 2 precursor				ENSP00000373539		61/69									COSM3398265	61/69	.		ENST00000388887	Transcript			angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	ENSG00000136011	g.chr12:104147041G>A	18629			LOW								--	--	1																																		STAB2_uc009zug.2_RNA	1	1			p.Q2208Q	NM_017564	NP_060034			1	STAB2_HUMAN	STAB2	HGNC	Q8WWQ8	STAB2_HUMAN			H0YIF3_HUMAN		61	6810	+			UPI00001ADDF4	2208			Extracellular (Potential).|Link.		SNV	STAB2,synonymous_variant,p.=,ENST00000388887,NM_017564.9;RP11-341G23.4,intron_variant,,ENST00000551299,;STAB2,upstream_gene_variant,,ENST00000548073,;STAB2,upstream_gene_variant,,ENST00000548579,;	uc001tjw.2	c.6624G>A	6828/8251	2	2			c.6624G>A						12	SNP	c.(6622-6624)CAG>CAA	21	21			ovary(9)|skin(5)	14	Broad	stabilin 2 precursor			104147041		0.567	ENSG00000136011	15004	g.chr12:104147041G>A	angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity							-7.736714	KEEP	1	2	-1	31	45	1	2	-1	7.393291	31	45	0.044118	1	0	0	0	0	0	0	1	0	--	--		0	A			STAB2_uc009zug.2_RNA	236	GBM-32-2494-TP	p.Q2208Q	G	CACTGGGCCAGTATAAGCTGA	NM_017564	NP_060034	104147041	Q8WWQ8	STAB2_HUMAN	0			61	6810	+	A	A			Silent	2208			Extracellular (Potential).|Link.			
STAC3	0	broad.mit.edu	GRCh37	12	57642900	57642900	+	synonymous_variant	Silent	SNP	G	G	A	rs148939626		TCGA-27-1833-01	TCGA-27-1833-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332782.2:c.258C>T	p.Asn86=	p.N86=	ENST00000332782	NM_145064.1	86	aaC/aaT	0	A:0		1			A	N	uc001snp.2	protein_coding	YES	CCDS8936.1			258/1095									ovary(2)|skin(1)	3	c.(256-258)AAC>AAT			Gene3D:3.30.60.20,hmmpanther:PTHR15135,hmmpanther:PTHR15135:SF2,Superfamily_domains:SSF57889	SH3 and cysteine rich domain 3			A:0.0002	ENSP00000329200		12-Mar	6.59E-05				0.000151	0.000106			rs148939626,COSM942008	12-Mar	.		ENST00000332782	Transcript	1		intracellular signal transduction		identical protein binding|metal ion binding	ENSG00000185482	g.chr12:57642900G>A	28423			LOW								--	--	1																																		STAC3_uc009zpl.2_Intron|STAC3_uc001snq.2_Silent_p.N47N|STAC3_uc010srm.1_Intron	0,1	1			p.N86N	NM_145064	NP_659501			0,1	STAC3_HUMAN	STAC3	HGNC	Q96MF2	STAC3_HUMAN			G3V5D4_HUMAN,B4DUK9_HUMAN		3	453	-			UPI000006E4D3	86					SNV	STAC3,synonymous_variant,p.=,ENST00000332782,NM_145064.1;STAC3,synonymous_variant,p.=,ENST00000554578,NM_001286256.1;STAC3,synonymous_variant,p.=,ENST00000553489,;STAC3,intron_variant,,ENST00000546246,NM_001286257.1;R3HDM2,downstream_gene_variant,,ENST00000402412,;R3HDM2,downstream_gene_variant,,ENST00000347140,;R3HDM2,downstream_gene_variant,,ENST00000358907,NM_014925.3;R3HDM2,downstream_gene_variant,,ENST00000413953,;STAC3,non_coding_transcript_exon_variant,,ENST00000553294,;STAC3,intron_variant,,ENST00000557176,;R3HDM2,downstream_gene_variant,,ENST00000393811,;RP11-123K3.4,downstream_gene_variant,,ENST00000548184,;STAC3,upstream_gene_variant,,ENST00000554003,;	uc001snp.2	c.258C>T	460/1656	1	1			c.258C>T						12	SNP	c.(256-258)AAC>AAT	59	59			ovary(2)|skin(1)	3	Broad	SH3 and cysteine rich domain 3			57642900		0.408	ENSG00000185482	15007	g.chr12:57642900G>A	intracellular signal transduction		identical protein binding|metal ion binding							115.835701	KEEP	32	18	-1	50	71	32	18	-1	122.336857	50	71	0.283871	1	0	0	0	0	0	0	1	0	--	--		0	A			STAC3_uc009zpl.2_Intron|STAC3_uc001snq.2_Silent_p.N47N|STAC3_uc010srm.1_Intron	192	GBM-27-1833-TP	p.N86N	G	GGGGCTTATCGTTGACCAGCT	NM_145064	NP_659501	57642900	Q96MF2	STAC3_HUMAN	0			3	453	-	A	A			Silent	86						
STAG1	10274	broad.mit.edu	GRCh37	3	136076625	136076625	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-06-5415-01	TCGA-06-5415-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000383202.2:c.3002del	p.Leu1001ArgfsTer7	p.L1001Rfs*7	ENST00000383202	NM_005862.2	1001	cTg/cg	0			1			-	L/X	uc003era.1	protein_coding	YES	CCDS3090.1			3002/3777									ovary(2)	2	c.(3001-3003)CTGfs			hmmpanther:PTHR11199,hmmpanther:PTHR11199:SF6	stromal antigen 1				ENSP00000372689		28/34									COSM2153234	28/34	.		ENST00000383202	Transcript			cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	ENSG00000118007	g.chr3:136076625delA	11354			HIGH								--	--	1																																		STAG1_uc003erb.1_Frame_Shift_Del_p.L1001fs	1	1			p.L1001fs	NM_005862	NP_005853			1	STAG1_HUMAN	STAG1	HGNC	Q8WVM7	STAG1_HUMAN			Q4LE48_HUMAN		28	3294	-			UPI000020A2DE	1001					deletion	STAG1,frameshift_variant,p.Leu1001ArgfsTer7,ENST00000383202,NM_005862.2;STAG1,frameshift_variant,p.Leu1001ArgfsTer7,ENST00000236698,;STAG1,frameshift_variant,p.Leu741ArgfsTer7,ENST00000434713,;STAG1,frameshift_variant,p.Leu585ArgfsTer7,ENST00000536929,;STAG1,3_prime_UTR_variant,,ENST00000483235,;STAG1,non_coding_transcript_exon_variant,,ENST00000465961,;	uc003era.1	c.3002delT	3259/6053	5	5			c.3002delT						3	DEL	c.(3001-3003)CTGfs	35	35			ovary(2)	2	Broad	stromal antigen 1			136076625		0.333	ENSG00000118007	15008	g.chr3:136076625delA	cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding																				0.75	1	1	0	1	0	0	0	0	0	--	--		0	-			STAG1_uc003erb.1_Frame_Shift_Del_p.L1001fs	98	GBM-06-5415-TP	p.L1001fs	A	AAGAAAAGCCAGATTAGGAGG	NM_005862	NP_005853	136076625	Q8WVM7	STAG1_HUMAN	0			28	3294	-	-	-			Frame_Shift_Del	1001						
STAG2	10735	broad.mit.edu	GRCh37	X	123205046	123205047	+	frameshift_variant	Frame_Shift_Del	DEL	TA	TA	-			TCGA-06-0749-01	TCGA-06-0749-01	TA	TA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000218089.9:c.2407_2408del	p.Met803ValfsTer5	p.M803Vfs*5	ENST00000218089	NM_001042749.1	802	atTAtg/attg	0			1			-	IM/IX	uc004etz.3	protein_coding		CCDS14607.1			2406-2407/3696									ovary(4)|skin(1)	5	c.(2404-2409)ATTATGfs			hmmpanther:PTHR11199,hmmpanther:PTHR11199:SF3,Superfamily_domains:SSF48371	stromal antigen 2 isoform b				ENSP00000360186		25/34									COSM2151899,COSM2151898	25/34	.		ENST00000371144	Transcript			cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	ENSG00000101972	g.chrX:123205046_123205047delTA	11355	1		HIGH								--	--	1																																		STAG2_uc004eua.2_Frame_Shift_Del_p.I802fs|STAG2_uc004eub.2_Frame_Shift_Del_p.I802fs|STAG2_uc004euc.2_Frame_Shift_Del_p.I802fs|STAG2_uc004eud.2_Frame_Shift_Del_p.I802fs|STAG2_uc004eue.2_Frame_Shift_Del_p.I802fs	1,1				p.I802fs	NM_006603	NP_006594			1,1	STAG2_HUMAN	STAG2	HGNC	Q8N3U4	STAG2_HUMAN			F8WAK8_HUMAN,B4DQ46_HUMAN,B1AMT4_HUMAN,B1AMT3_HUMAN,B1AMT2_HUMAN,B1AMT1_HUMAN,B1AMT0_HUMAN,B1AMS9_HUMAN,B1AMS8_HUMAN		24	2745_2746	+			UPI00001A8BFE	802_803					deletion	STAG2,frameshift_variant,p.Met803ValfsTer5,ENST00000371160,NM_001282418.1;STAG2,frameshift_variant,p.Met803ValfsTer5,ENST00000371157,NM_006603.4;STAG2,frameshift_variant,p.Met803ValfsTer5,ENST00000218089,NM_001042749.1;STAG2,frameshift_variant,p.Met803ValfsTer5,ENST00000371145,NM_001042750.1;STAG2,frameshift_variant,p.Met803ValfsTer5,ENST00000371144,NM_001042751.1;STAG2,frameshift_variant,p.Met734ValfsTer5,ENST00000354548,;STAG2,intron_variant,,ENST00000469481,;	uc004etz.3	c.2406_2407delTA	2686-2687/4281	5	5			c.2406_2407delTA						23	DEL	c.(2404-2409)ATTATGfs	62	62			ovary(4)|skin(1)	5	Broad	stromal antigen 2 isoform b			123205047		0.376	ENSG00000101972	15009	g.chrX:123205046_123205047delTA	cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding																				0.6	1	1	0	1	0	0	0	0	0	--	--		0	-			STAG2_uc004eua.2_Frame_Shift_Del_p.I802fs|STAG2_uc004eub.2_Frame_Shift_Del_p.I802fs|STAG2_uc004euc.2_Frame_Shift_Del_p.I802fs|STAG2_uc004eud.2_Frame_Shift_Del_p.I802fs|STAG2_uc004eue.2_Frame_Shift_Del_p.I802fs	69	GBM-06-0749-TP	p.I802fs	TA	GCCATCAGATTATGTCAGGAGG	NM_006603	NP_006594	123205046	Q8N3U4	STAG2_HUMAN	0			24	2745_2746	+	-	-			Frame_Shift_Del	802_803						
STAG2	10735	broad.mit.edu	GRCh37	X	123197901	123197901	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-2561-01	TCGA-06-2561-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000218089.9:c.2025G>C	p.Glu675Asp	p.E675D	ENST00000218089	NM_001042749.1	675	gaG/gaC	0			1			C	E/D	uc004etz.3	protein_coding		CCDS14607.1			2025/3696									ovary(4)|skin(1)	5	c.(2023-2025)GAG>GAC			hmmpanther:PTHR11199,hmmpanther:PTHR11199:SF3,Superfamily_domains:SSF48371	stromal antigen 2 isoform b				ENSP00000360186		20/34									COSM2152725,COSM2152724	20/34	.		ENST00000371144	Transcript			cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	ENSG00000101972	g.chrX:123197901G>C	11355			MODERATE		2.24	medium	getma.org/?cm=msa&ty=f&p=STAG2_HUMAN&rb=674&re=873&var=E675D	NA	getma.org/?cm=var&var=hg19,X,123197901,G,C&fts=all	E675D	--	--	1																																		STAG2_uc004eua.2_Missense_Mutation_p.E675D|STAG2_uc004eub.2_Missense_Mutation_p.E675D|STAG2_uc004euc.2_Missense_Mutation_p.E675D|STAG2_uc004eud.2_Missense_Mutation_p.E675D|STAG2_uc004eue.2_Missense_Mutation_p.E675D	1,1			possibly_damaging(0.733)	p.E675D	NM_006603	NP_006594		tolerated(0.06)	1,1	STAG2_HUMAN	STAG2	HGNC	Q8N3U4	STAG2_HUMAN			F8WAK8_HUMAN,B4DQ46_HUMAN,B1AMT4_HUMAN,B1AMT3_HUMAN,B1AMT2_HUMAN,B1AMT1_HUMAN,B1AMT0_HUMAN,B1AMS9_HUMAN,B1AMS8_HUMAN		19	2364	+			UPI00001A8BFE	675					SNV	STAG2,missense_variant,p.Glu675Asp,ENST00000371160,NM_001282418.1;STAG2,missense_variant,p.Glu675Asp,ENST00000371157,NM_006603.4;STAG2,missense_variant,p.Glu675Asp,ENST00000218089,NM_001042749.1;STAG2,missense_variant,p.Glu675Asp,ENST00000371145,NM_001042750.1;STAG2,missense_variant,p.Glu675Asp,ENST00000371144,NM_001042751.1;STAG2,missense_variant,p.Glu606Asp,ENST00000354548,;STAG2,downstream_gene_variant,,ENST00000455404,;STAG2,intron_variant,,ENST00000469481,;STAG2,downstream_gene_variant,,ENST00000466748,;STAG2,downstream_gene_variant,,ENST00000483575,;STAG2,downstream_gene_variant,,ENST00000471107,;	uc004etz.3	c.2025G>C	2305/4281	3	3			c.2025G>C						23	SNP	c.(2023-2025)GAG>GAC	55	55			ovary(4)|skin(1)	5	Broad	stromal antigen 2 isoform b			123197901		0.358	ENSG00000101972	15009	g.chrX:123197901G>C	cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding							44.452462	KEEP	8	10	-1	16	22	8	10	-1	46.101786	16	22	0.314815	1	0	0	0	0	1	0	0	0	--	--		0	C			STAG2_uc004eua.2_Missense_Mutation_p.E675D|STAG2_uc004eub.2_Missense_Mutation_p.E675D|STAG2_uc004euc.2_Missense_Mutation_p.E675D|STAG2_uc004eud.2_Missense_Mutation_p.E675D|STAG2_uc004eue.2_Missense_Mutation_p.E675D	84	GBM-06-2561-TP	p.E675D	G	TTCTGCAAGAGGTATATATTA	NM_006603	NP_006594	123197901	Q8N3U4	STAG2_HUMAN	0			19	2364	+	C	C			Missense_Mutation	675						
STAG2	10735	broad.mit.edu	GRCh37	X	123205085	123205085	+	stop_gained	Nonsense_Mutation	SNP	T	T	A			TCGA-06-6388-01	TCGA-06-6388-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000218089.9:c.2445T>A	p.Tyr815Ter	p.Y815*	ENST00000218089	NM_001042749.1	815	taT/taA	0			1			A	Y/*	uc004etz.3	protein_coding		CCDS14607.1			2445/3696									ovary(4)|skin(1)	5	c.(2443-2445)TAT>TAA			hmmpanther:PTHR11199,hmmpanther:PTHR11199:SF3,Superfamily_domains:SSF48371	stromal antigen 2 isoform b				ENSP00000360186		25/34									COSM3405926,COSM3405925	25/34	.		ENST00000371144	Transcript			cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	ENSG00000101972	g.chrX:123205085T>A	11355			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,X,123205085,T,A&fts=all	Y815*	--	--	1																																		STAG2_uc004eua.2_Nonsense_Mutation_p.Y815*|STAG2_uc004eub.2_Nonsense_Mutation_p.Y815*|STAG2_uc004euc.2_Nonsense_Mutation_p.Y815*|STAG2_uc004eud.2_Nonsense_Mutation_p.Y815*|STAG2_uc004eue.2_Nonsense_Mutation_p.Y815*	1,1				p.Y815*	NM_006603	NP_006594			1,1	STAG2_HUMAN	STAG2	HGNC	Q8N3U4	STAG2_HUMAN			F8WAK8_HUMAN,B4DQ46_HUMAN,B1AMT4_HUMAN,B1AMT3_HUMAN,B1AMT2_HUMAN,B1AMT1_HUMAN,B1AMT0_HUMAN,B1AMS9_HUMAN,B1AMS8_HUMAN		24	2784	+			UPI00001A8BFE	815					SNV	STAG2,stop_gained,p.Tyr815Ter,ENST00000371160,NM_001282418.1;STAG2,stop_gained,p.Tyr815Ter,ENST00000371157,NM_006603.4;STAG2,stop_gained,p.Tyr815Ter,ENST00000218089,NM_001042749.1;STAG2,stop_gained,p.Tyr815Ter,ENST00000371145,NM_001042750.1;STAG2,stop_gained,p.Tyr815Ter,ENST00000371144,NM_001042751.1;STAG2,stop_gained,p.Tyr746Ter,ENST00000354548,;STAG2,intron_variant,,ENST00000469481,;	uc004etz.3	c.2445T>A	2725/4281	5	1			c.2445T>A						23	SNP	c.(2443-2445)TAT>TAA	51	51			ovary(4)|skin(1)	5	Broad	stromal antigen 2 isoform b			123205085		0.363	ENSG00000101972	15009	g.chrX:123205085T>A	cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding							191.725258	KEEP	44	37	-1	82	72	44	37	-1	196.807971	82	72	0.333333	1	0	0	0	0	0	1	0	0	--	--		0	A			STAG2_uc004eua.2_Nonsense_Mutation_p.Y815*|STAG2_uc004eub.2_Nonsense_Mutation_p.Y815*|STAG2_uc004euc.2_Nonsense_Mutation_p.Y815*|STAG2_uc004eud.2_Nonsense_Mutation_p.Y815*|STAG2_uc004eue.2_Nonsense_Mutation_p.Y815*	104	GBM-06-6388-TP	p.Y815*	T	CATTAGTGTATACCCCTGATT	NM_006603	NP_006594	123205085	Q8N3U4	STAG2_HUMAN	0			24	2784	+	A	A			Nonsense_Mutation	815						
STAG2	0	broad.mit.edu	GRCh37	X	123176479	123176479	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-12-0692-01	TCGA-12-0692-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371144.3:c.446delC	p.Thr149MetfsTer34	p.T149Mfs*34	ENST00000371144	NM_001042751.1	149	aCt/at	0			1			-	T/X	uc004etz.3	protein_coding		CCDS14607.1			446/3696									ovary(4)|skin(1)	5	c.(445-447)ACTfs			hmmpanther:PTHR11199,hmmpanther:PTHR11199:SF3	stromal antigen 2 isoform b				ENSP00000360186		Jul-34									COSM2154274,COSM2154273	Jul-34	.		ENST00000371144	Transcript			cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	ENSG00000101972	g.chrX:123176479delC	11355			HIGH								--	--	1																																		STAG2_uc004eua.2_Frame_Shift_Del_p.T149fs|STAG2_uc004eub.2_Frame_Shift_Del_p.T149fs|STAG2_uc004euc.2_Frame_Shift_Del_p.T149fs|STAG2_uc004eud.2_Frame_Shift_Del_p.T149fs|STAG2_uc004eue.2_Frame_Shift_Del_p.T149fs	1,1				p.T149fs	NM_006603	NP_006594			1,1	STAG2_HUMAN	STAG2	HGNC	Q8N3U4	STAG2_HUMAN			F8WAK8_HUMAN,B4DQ46_HUMAN,B1AMT4_HUMAN,B1AMT3_HUMAN,B1AMT2_HUMAN,B1AMT1_HUMAN,B1AMT0_HUMAN,B1AMS9_HUMAN,B1AMS8_HUMAN		6	785	+			UPI00001A8BFE	149					deletion	STAG2,frameshift_variant,p.Thr149MetfsTer34,ENST00000371160,NM_001282418.1;STAG2,frameshift_variant,p.Thr149MetfsTer34,ENST00000371157,NM_006603.4;STAG2,frameshift_variant,p.Thr149MetfsTer34,ENST00000218089,NM_001042749.1;STAG2,frameshift_variant,p.Thr149MetfsTer34,ENST00000371145,NM_001042750.1;STAG2,frameshift_variant,p.Thr149MetfsTer34,ENST00000371144,NM_001042751.1;STAG2,frameshift_variant,p.Thr80MetfsTer34,ENST00000354548,;STAG2,frameshift_variant,p.Thr149MetfsTer34,ENST00000455404,;STAG2,frameshift_variant,p.Thr149MetfsTer34,ENST00000435215,;STAG2,frameshift_variant,p.Thr149MetfsTer?,ENST00000435103,;STAG2,frameshift_variant,p.Thr149MetfsTer?,ENST00000428941,;STAG2,intron_variant,,ENST00000469481,;STAG2,intron_variant,,ENST00000466748,;STAG2,intron_variant,,ENST00000483575,;STAG2,intron_variant,,ENST00000471107,;STAG2,3_prime_UTR_variant,,ENST00000458176,;	uc004etz.3	c.446delC	726/4281	5	5			c.446delC						23	DEL	c.(445-447)ACTfs	1	1			ovary(4)|skin(1)	5	Broad	stromal antigen 2 isoform b			123176479		0.299	ENSG00000101972	15009	g.chrX:123176479delC	cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding																				0.42	1	1	0	1	0	0	0	0	0	--	--		0	-			STAG2_uc004eua.2_Frame_Shift_Del_p.T149fs|STAG2_uc004eub.2_Frame_Shift_Del_p.T149fs|STAG2_uc004euc.2_Frame_Shift_Del_p.T149fs|STAG2_uc004eud.2_Frame_Shift_Del_p.T149fs|STAG2_uc004eue.2_Frame_Shift_Del_p.T149fs	122	GBM-12-0692-TP	p.T149fs	C	CGAAAAATGACTGAAGAATTC	NM_006603	NP_006594	123176479	Q8N3U4	STAG2_HUMAN	0			6	785	+	-	-			Frame_Shift_Del	149						
STAG2	0	broad.mit.edu	GRCh37	X	123176497	123176497	+	splice_donor_variant	Splice_Site	SNP	T	T	C			TCGA-12-0821-01	TCGA-12-0821-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371144.3:c.462+2T>C		p.X154_splice	ENST00000371144	NM_001042751.1			0			1			C		uc004etz.3	protein_coding		CCDS14607.1			462/3696									ovary(4)|skin(1)	5	c.e6+2				stromal antigen 2 isoform b				ENSP00000360186											COSM3405918,COSM3405917		.		ENST00000371144	Transcript			cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	ENSG00000101972	g.chrX:123176497T>C	11355			HIGH	Jul-33							--	--	1																																		STAG2_uc004eua.2_Splice_Site_p.E154_splice|STAG2_uc004eub.2_Splice_Site_p.E154_splice|STAG2_uc004euc.2_Splice_Site_p.E154_splice|STAG2_uc004eud.2_Splice_Site_p.E154_splice|STAG2_uc004eue.2_Splice_Site_p.E154_splice	1,1				p.E154_splice	NM_006603	NP_006594			1,1	STAG2_HUMAN	STAG2	HGNC	Q8N3U4	STAG2_HUMAN			F8WAK8_HUMAN,B4DQ46_HUMAN,B1AMT4_HUMAN,B1AMT3_HUMAN,B1AMT2_HUMAN,B1AMT1_HUMAN,B1AMT0_HUMAN,B1AMS9_HUMAN,B1AMS8_HUMAN		6	801	+			UPI00001A8BFE						SNV	STAG2,splice_donor_variant,,ENST00000371160,NM_001282418.1;STAG2,splice_donor_variant,,ENST00000371157,NM_006603.4;STAG2,splice_donor_variant,,ENST00000218089,NM_001042749.1;STAG2,splice_donor_variant,,ENST00000371145,NM_001042750.1;STAG2,splice_donor_variant,,ENST00000371144,NM_001042751.1;STAG2,splice_donor_variant,,ENST00000354548,;STAG2,splice_donor_variant,,ENST00000455404,;STAG2,splice_donor_variant,,ENST00000435215,;STAG2,splice_donor_variant,,ENST00000428941,;STAG2,downstream_gene_variant,,ENST00000435103,;STAG2,intron_variant,,ENST00000469481,;STAG2,intron_variant,,ENST00000466748,;STAG2,intron_variant,,ENST00000483575,;STAG2,intron_variant,,ENST00000471107,;STAG2,splice_donor_variant,,ENST00000458176,;	uc004etz.3	c.462_splice	-/4281	5	3			c.462_splice						23	SNP	c.e6+2	16	16			ovary(4)|skin(1)	5	Broad	stromal antigen 2 isoform b			123176497		0.274	ENSG00000101972	15009	g.chrX:123176497T>C	cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding							202.390598	KEEP	47	14	-1	5	9	47	14	-1	209.124628	5	9	0.830769	1	0	0	0	0	0	0	0	1	--	--		0	C			STAG2_uc004eua.2_Splice_Site_p.E154_splice|STAG2_uc004eub.2_Splice_Site_p.E154_splice|STAG2_uc004euc.2_Splice_Site_p.E154_splice|STAG2_uc004eud.2_Splice_Site_p.E154_splice|STAG2_uc004eue.2_Splice_Site_p.E154_splice	123	GBM-12-0821-TP	p.E154_splice	T	TTCGATGAGGTAACTTACTAC	NM_006603	NP_006594	123176497	Q8N3U4	STAG2_HUMAN	0			6	801	+	C	C			Splice_Site							
STAG2	0	broad.mit.edu	GRCh37	X	123176470	123176471	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-14-0789-01	TCGA-14-0789-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371144.3:c.442dupA	p.Met148AsnfsTer3	p.M148Nfs*3	ENST00000371144	NM_001042751.1	146	cga/cgAa	0			1			A	R/RX	uc004etz.3	protein_coding		CCDS14607.1			437-438/3696									ovary(4)|skin(1)	5	c.(436-438)CGAfs			hmmpanther:PTHR11199,hmmpanther:PTHR11199:SF3	stromal antigen 2 isoform b				ENSP00000360186		Jul-34										Jul-34	.		ENST00000371144	Transcript			cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	ENSG00000101972	g.chrX:123176470_123176471insA	11355	5		HIGH								--	--	1																																		STAG2_uc004eua.2_Frame_Shift_Ins_p.R146fs|STAG2_uc004eub.2_Frame_Shift_Ins_p.R146fs|STAG2_uc004euc.2_Frame_Shift_Ins_p.R146fs|STAG2_uc004eud.2_Frame_Shift_Ins_p.R146fs|STAG2_uc004eue.2_Frame_Shift_Ins_p.R146fs					p.R146fs	NM_006603	NP_006594				STAG2_HUMAN	STAG2	HGNC	Q8N3U4	STAG2_HUMAN			F8WAK8_HUMAN,B4DQ46_HUMAN,B1AMT4_HUMAN,B1AMT3_HUMAN,B1AMT2_HUMAN,B1AMT1_HUMAN,B1AMT0_HUMAN,B1AMS9_HUMAN,B1AMS8_HUMAN		6	776_777	+			UPI00001A8BFE	146					insertion	STAG2,frameshift_variant,p.Met148AsnfsTer3,ENST00000371160,NM_001282418.1;STAG2,frameshift_variant,p.Met148AsnfsTer3,ENST00000371157,NM_006603.4;STAG2,frameshift_variant,p.Met148AsnfsTer3,ENST00000218089,NM_001042749.1;STAG2,frameshift_variant,p.Met148AsnfsTer3,ENST00000371145,NM_001042750.1;STAG2,frameshift_variant,p.Met148AsnfsTer3,ENST00000371144,NM_001042751.1;STAG2,frameshift_variant,p.Met79AsnfsTer3,ENST00000354548,;STAG2,frameshift_variant,p.Met148AsnfsTer3,ENST00000455404,;STAG2,frameshift_variant,p.Met148AsnfsTer3,ENST00000435215,;STAG2,frameshift_variant,p.Met148AsnfsTer3,ENST00000435103,;STAG2,frameshift_variant,p.Met148AsnfsTer3,ENST00000428941,;STAG2,intron_variant,,ENST00000469481,;STAG2,intron_variant,,ENST00000466748,;STAG2,intron_variant,,ENST00000483575,;STAG2,intron_variant,,ENST00000471107,;STAG2,3_prime_UTR_variant,,ENST00000458176,;	uc004etz.3	c.437_438insA	717-718/4281	5	5			c.437_438insA						23	INS	c.(436-438)CGAfs	7	7			ovary(4)|skin(1)	5	Broad	stromal antigen 2 isoform b			123176471		0.287	ENSG00000101972	15009	g.chrX:123176470_123176471insA	cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding																				0.45	1	0	0	1	1	0	0	0	0	--	--		0	A			STAG2_uc004eua.2_Frame_Shift_Ins_p.R146fs|STAG2_uc004eub.2_Frame_Shift_Ins_p.R146fs|STAG2_uc004euc.2_Frame_Shift_Ins_p.R146fs|STAG2_uc004eud.2_Frame_Shift_Ins_p.R146fs|STAG2_uc004eue.2_Frame_Shift_Ins_p.R146fs	136	GBM-14-0789-TP	p.R146fs	-	GAGATAATTCGAAAAATGACTG	NM_006603	NP_006594	123176470	Q8N3U4	STAG2_HUMAN	0			6	776_777	+	A	A			Frame_Shift_Ins	146						
STAG2	0	broad.mit.edu	GRCh37	X	123182854	123182854	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T			TCGA-41-4097-01	TCGA-41-4097-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371144.3:c.820-1G>T		p.X274_splice	ENST00000371144	NM_001042751.1			0			1			T		uc004etz.3	protein_coding		CCDS14607.1			820/3696									ovary(4)|skin(1)	5	c.e9-1				stromal antigen 2 isoform b				ENSP00000360186											COSM3405920,COSM3405919		.		ENST00000371144	Transcript			cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	ENSG00000101972	g.chrX:123182854G>T	11355			HIGH	Sep-33							--	--	1																																		STAG2_uc004eua.2_Splice_Site_p.L274_splice|STAG2_uc004eub.2_Splice_Site_p.L274_splice|STAG2_uc004euc.2_Splice_Site_p.L274_splice|STAG2_uc004eud.2_Splice_Site_p.L274_splice|STAG2_uc004eue.2_Splice_Site_p.L274_splice	1,1				p.L274_splice	NM_006603	NP_006594			1,1	STAG2_HUMAN	STAG2	HGNC	Q8N3U4	STAG2_HUMAN			F8WAK8_HUMAN,B4DQ46_HUMAN,B1AMT4_HUMAN,B1AMT3_HUMAN,B1AMT2_HUMAN,B1AMT1_HUMAN,B1AMT0_HUMAN,B1AMS9_HUMAN,B1AMS8_HUMAN		9	1159	+			UPI00001A8BFE						SNV	STAG2,splice_acceptor_variant,,ENST00000371160,NM_001282418.1;STAG2,splice_acceptor_variant,,ENST00000371157,NM_006603.4;STAG2,splice_acceptor_variant,,ENST00000218089,NM_001042749.1;STAG2,splice_acceptor_variant,,ENST00000371145,NM_001042750.1;STAG2,splice_acceptor_variant,,ENST00000371144,NM_001042751.1;STAG2,splice_acceptor_variant,,ENST00000354548,;STAG2,splice_acceptor_variant,,ENST00000455404,;STAG2,downstream_gene_variant,,ENST00000435215,;STAG2,downstream_gene_variant,,ENST00000428941,;STAG2,intron_variant,,ENST00000469481,;STAG2,intron_variant,,ENST00000466748,;STAG2,intron_variant,,ENST00000483575,;STAG2,intron_variant,,ENST00000471107,;STAG2,downstream_gene_variant,,ENST00000458176,;	uc004etz.3	c.820_splice	-/4281	5	1			c.820_splice						23	SNP	c.e9-1	16	16			ovary(4)|skin(1)	5	Broad	stromal antigen 2 isoform b			123182854		0.308	ENSG00000101972	15009	g.chrX:123182854G>T	cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding							60.259934	KEEP	8	16	0.333333333	31	36	8	16	0.333333333	64.196928	31	36	0.275862	1	0	0	0	0	0	0	0	1	--	--		0	T			STAG2_uc004eua.2_Splice_Site_p.L274_splice|STAG2_uc004eub.2_Splice_Site_p.L274_splice|STAG2_uc004euc.2_Splice_Site_p.L274_splice|STAG2_uc004eud.2_Splice_Site_p.L274_splice|STAG2_uc004eue.2_Splice_Site_p.L274_splice	257	GBM-41-4097-TP	p.L274_splice	G	TTTTTTTACAGCTTCAGGAAA	NM_006603	NP_006594	123182854	Q8N3U4	STAG2_HUMAN	0			9	1159	+	T	T			Splice_Site							
STAG2	0	broad.mit.edu	GRCh37	X	123171416	123171416	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-81-5910-01	TCGA-81-5910-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371144.3:c.328C>T	p.Arg110Ter	p.R110*	ENST00000371144	NM_001042751.1	110	Cga/Tga	0			1			T	R/*	uc004etz.3	protein_coding		CCDS14607.1			328/3696									ovary(4)|skin(1)	5	c.(328-330)CGA>TGA			hmmpanther:PTHR11199,hmmpanther:PTHR11199:SF3	stromal antigen 2 isoform b				ENSP00000360186		Jun-34									COSM1738074,COSM3405916	Jun-34	.		ENST00000371144	Transcript			cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	ENSG00000101972	g.chrX:123171416C>T	11355			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,X,123171416,C,T&fts=all	R110*	--	--	1																																		STAG2_uc004eua.2_Nonsense_Mutation_p.R110*|STAG2_uc004eub.2_Nonsense_Mutation_p.R110*|STAG2_uc004euc.2_Nonsense_Mutation_p.R110*|STAG2_uc004eud.2_Nonsense_Mutation_p.R110*|STAG2_uc004eue.2_Nonsense_Mutation_p.R110*	1,1				p.R110*	NM_006603	NP_006594			1,1	STAG2_HUMAN	STAG2	HGNC	Q8N3U4	STAG2_HUMAN			F8WAK8_HUMAN,B4DQ46_HUMAN,B1AMT4_HUMAN,B1AMT3_HUMAN,B1AMT2_HUMAN,B1AMT1_HUMAN,B1AMT0_HUMAN,B1AMS9_HUMAN,B1AMS8_HUMAN		5	667	+			UPI00001A8BFE	110					SNV	STAG2,stop_gained,p.Arg110Ter,ENST00000371160,NM_001282418.1;STAG2,stop_gained,p.Arg110Ter,ENST00000371157,NM_006603.4;STAG2,stop_gained,p.Arg110Ter,ENST00000218089,NM_001042749.1;STAG2,stop_gained,p.Arg110Ter,ENST00000371145,NM_001042750.1;STAG2,stop_gained,p.Arg110Ter,ENST00000371144,NM_001042751.1;STAG2,stop_gained,p.Arg41Ter,ENST00000354548,;STAG2,stop_gained,p.Arg110Ter,ENST00000455404,;STAG2,stop_gained,p.Arg110Ter,ENST00000435215,;STAG2,stop_gained,p.Arg110Ter,ENST00000435103,;STAG2,stop_gained,p.Arg110Ter,ENST00000428941,;STAG2,stop_gained,p.Arg110Ter,ENST00000394478,;STAG2,intron_variant,,ENST00000469481,;STAG2,intron_variant,,ENST00000466748,;STAG2,intron_variant,,ENST00000483575,;STAG2,intron_variant,,ENST00000471107,;STAG2,3_prime_UTR_variant,,ENST00000458176,;	uc004etz.3	c.328C>T	608/4281	5	1			c.328C>T						23	SNP	c.(328-330)CGA>TGA	3	3			ovary(4)|skin(1)	5	Broad	stromal antigen 2 isoform b			123171416		0.323	ENSG00000101972	15009	g.chrX:123171416C>T	cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding							127.431137	KEEP	22	25	-1	3	1	22	25	-1	133.854481	3	1	0.9	1	0	0	0	0	0	1	0	0	--	--		0	T			STAG2_uc004eua.2_Nonsense_Mutation_p.R110*|STAG2_uc004eub.2_Nonsense_Mutation_p.R110*|STAG2_uc004euc.2_Nonsense_Mutation_p.R110*|STAG2_uc004eud.2_Nonsense_Mutation_p.R110*|STAG2_uc004eue.2_Nonsense_Mutation_p.R110*	289	GBM-81-5910-TP	p.R110*	C	CAAGCATGACCGAGATATAGC	NM_006603	NP_006594	123171416	Q8N3U4	STAG2_HUMAN	0			5	667	+	T	T			Nonsense_Mutation	110						
STAG2	10735		GRCh37	X	123197784	123197784	+	stop_gained	Nonsense_Mutation	SNP	C	C	G			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000218089.9:c.1908C>G	p.Tyr636Ter	p.Y636*	ENST00000218089	NM_001042749.1	636	taC/taG	0																																																																																																																																																																																																																																												
STAM	8027	broad.mit.edu	GRCh37	10	17735226	17735226	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-02-2470-01	TCGA-02-2470-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377524.3:c.450A>G	p.Ala150=	p.A150=	ENST00000377524	NM_003473.3	150	gcA/gcG	0			1			G	A	uc001ipj.1	protein_coding	YES	CCDS7122.1			450/1623									large_intestine(1)|ovary(1)	2	c.(448-450)GCA>GCG			hmmpanther:PTHR13856,hmmpanther:PTHR13856:SF26	signal transducing adaptor molecule 1				ENSP00000366746		14-Jun									COSM2149072	14-Jun	.		ENST00000377524	Transcript			cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	ENSG00000136738	g.chr10:17735226A>G	11357			LOW								--	--	1																																		STAM_uc010qcf.1_Silent_p.A39A|STAM_uc009xjw.1_5'Flank	1	1			p.A150A	NM_003473	NP_003464			1	STAM1_HUMAN	STAM	HGNC	Q92783	STAM1_HUMAN			C9J1E5_HUMAN,B4DZT2_HUMAN,A6NMU3_HUMAN		6	666	+			UPI000006E278	150					SNV	STAM,synonymous_variant,p.=,ENST00000377524,NM_003473.3;STAM,synonymous_variant,p.=,ENST00000540523,;STAM,synonymous_variant,p.=,ENST00000377500,;RP11-390B4.3,downstream_gene_variant,,ENST00000445235,;STAM,3_prime_UTR_variant,,ENST00000445846,;STAM,upstream_gene_variant,,ENST00000494250,;	uc001ipj.1	c.450A>G	665/2972	3	3			c.450A>G						10	SNP	c.(448-450)GCA>GCG	63	63			large_intestine(1)|ovary(1)	2	Broad	signal transducing adaptor molecule 1			17735226		0.408	ENSG00000136738	15014	g.chr10:17735226A>G	cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity							333.85454	KEEP	40	75	-1	54	45	40	75	-1	333.94841	54	45	0.524064	1	0	0	0	0	0	0	1	0	--	--		0	G			STAM_uc010qcf.1_Silent_p.A39A|STAM_uc009xjw.1_5'Flank	5	GBM-02-2470-TP	p.A150A	A	GTTAGGCTGCAGAACAAGCAA	NM_003473	NP_003464	17735226	Q92783	STAM1_HUMAN	0			6	666	+	G	G			Silent	150						
STAM2	10254	broad.mit.edu	GRCh37	2	153003822	153003822	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263904.4:c.301G>A	p.Ala101Thr	p.A101T	ENST00000263904	NM_005843.4	101	Gca/Aca	0			1			T	A/T	uc002tyc.3	protein_coding	YES	CCDS2196.1			301/1578									ovary(1)	1	c.(301-303)GCA>ACA			PROSITE_profiles:PS50179,hmmpanther:PTHR13856:SF25,hmmpanther:PTHR13856,Pfam_domain:PF00790,Gene3D:1.25.40.90,SMART_domains:SM00288,Superfamily_domains:SSF48464	signal transducing adaptor molecule 2				ENSP00000263904		14-May									COSM2149070	14-May	.		ENST00000263904	Transcript			cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding	ENSG00000115145	g.chr2:153003822C>T	11358			MODERATE		-0.175	neutral	getma.org/?cm=msa&ty=f&p=STAM2_HUMAN&rb=4&re=140&var=A101T	getma.org/pdb.php?prot=STAM2_HUMAN&from=4&to=140&var=A101T	getma.org/?cm=var&var=hg19,2,153003822,C,T&fts=all	A101T	--	--	1																																		STAM2_uc010foa.1_Missense_Mutation_p.A101T|STAM2_uc002tyd.2_Missense_Mutation_p.A101T	1	1		benign(0.11)	p.A101T	NM_005843	NP_005834		deleterious(0.02)	1	STAM2_HUMAN	STAM2	HGNC	O75886	STAM2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.22)			5	651	-			UPI0000071984	101			VHS.		SNV	STAM2,missense_variant,p.Ala101Thr,ENST00000263904,NM_005843.4;STAM2,splice_region_variant,,ENST00000465460,;STAM2,splice_region_variant,,ENST00000482997,;STAM2,splice_region_variant,,ENST00000463854,;STAM2,splice_region_variant,,ENST00000494589,;	uc002tyc.3	c.301G>A	651/5701	2	2			c.301G>A						2	SNP	c.(301-303)GCA>ACA	41	41			ovary(1)	1	Broad	signal transducing adaptor molecule 2			153003822		0.299	ENSG00000115145	15015	g.chr2:153003822C>T	cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding							75.880306	KEEP	19	17	-1	54	59	19	17	-1	84.331145	54	59	0.232558	1	0	0	0	0	1	0	0	0	--	--		0	T			STAM2_uc010foa.1_Missense_Mutation_p.A101T|STAM2_uc002tyd.2_Missense_Mutation_p.A101T	5	GBM-02-2470-TP	p.A101T	C	TTAGGATGTGCCTTTTAAGGA	NM_005843	NP_005834	153003822	O75886	STAM2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.22)	5	651	-	T	T			Missense_Mutation	101			VHS.			
STAMBPL1	57559	broad.mit.edu	GRCh37	10	90665247	90665247	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-06-0145-01	TCGA-06-0145-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371926.3:c.78A>T	p.Pro26=	p.P26=	ENST00000371926	NM_020799.3	26	ccA/ccT	0			1			T	P	uc001kfk.2	protein_coding		CCDS7391.1			78/1311									ovary(1)	1	c.(76-78)CCA>CCT			hmmpanther:PTHR12947,hmmpanther:PTHR12947:SF7	STAM binding protein-like 1				ENSP00000360992		10-Feb									COSM2149736,COSM2149737	10-Feb	.		ENST00000371924	Transcript					metal ion binding|metallopeptidase activity|protein binding	ENSG00000138134	g.chr10:90665247A>T	24105			LOW								--	--	1																																		STAMBPL1_uc010qmx.1_Silent_p.P26P|STAMBPL1_uc009xto.2_RNA|STAMBPL1_uc001kfl.2_Silent_p.P26P|STAMBPL1_uc001kfm.2_5'Flank	1,1				p.P26P	NM_020799	NP_065850			1,1	STALP_HUMAN	STAMBPL1	HGNC	Q96FJ0	STALP_HUMAN		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)	B3KR00_HUMAN		3	501	+		Colorectal(252;0.0381)	UPI000013FA61	26					SNV	STAMBPL1,synonymous_variant,p.=,ENST00000371927,;STAMBPL1,synonymous_variant,p.=,ENST00000371926,NM_020799.3;STAMBPL1,synonymous_variant,p.=,ENST00000371924,;	uc001kfk.2	c.78A>T	712/2208	1	1			c.78A>T						10	SNP	c.(76-78)CCA>CCT	10	10			ovary(1)	1	Broad	STAM binding protein-like 1			90665247		0.418	ENSG00000138134	15017	g.chr10:90665247A>T			metal ion binding|metallopeptidase activity|protein binding							115.888695	KEEP	21	14	-1	12	10	21	14	-1	116.588943	12	10	0.622642	1	0	0	0	0	0	0	1	0	--	--		0	T			STAMBPL1_uc010qmx.1_Silent_p.P26P|STAMBPL1_uc009xto.2_RNA|STAMBPL1_uc001kfl.2_Silent_p.P26P|STAMBPL1_uc001kfm.2_5'Flank	23	GBM-06-0145-TP	p.P26P	A	CCCTAAGCCCAGAAGAGCGAG	NM_020799	NP_065850	90665247	Q96FJ0	STALP_HUMAN	0		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)	3	501	+	T	T		Colorectal(252;0.0381)	Silent	26						
STAP1	0	broad.mit.edu	GRCh37	4	68449405	68449405	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-12-0688-01	TCGA-12-0688-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265404.2:c.644T>C	p.Ile215Thr	p.I215T	ENST00000265404	NM_012108.2	215	aTt/aCt	0			1			C	I/T	uc003hde.3	protein_coding	YES	CCDS3515.1			644/888										0	c.(643-645)ATT>ACT			PROSITE_profiles:PS50001,hmmpanther:PTHR16186,hmmpanther:PTHR16186:SF10,Gene3D:3.30.505.10,Pfam_domain:PF00017,SMART_domains:SM00252,Superfamily_domains:SSF55550	signal transducing adaptor family member 1				ENSP00000265404		9-Jun									COSM3409408	9-Jun	.		ENST00000265404	Transcript			cellular membrane fusion|intracellular protein transport	cytoplasm		ENSG00000035720	g.chr4:68449405T>C	24133			MODERATE		0.46	neutral	getma.org/?cm=msa&ty=f&p=STAP1_HUMAN&rb=178&re=256&var=I215T	getma.org/pdb.php?prot=STAP1_HUMAN&from=178&to=256&var=I215T	getma.org/?cm=var&var=hg19,4,68449405,T,C&fts=all	I215T	--	--	1																																		STAP1_uc003hdf.2_Missense_Mutation_p.I215T	1	1		possibly_damaging(0.857)	p.I215T	NM_012108	NP_036240		tolerated(0.12)	1	STAP1_HUMAN	STAP1	HGNC	Q9ULZ2	STAP1_HUMAN					6	726	+			UPI0000073E6C	215			SH2.		SNV	STAP1,missense_variant,p.Ile215Thr,ENST00000265404,NM_012108.2;STAP1,missense_variant,p.Ile215Thr,ENST00000396225,;	uc003hde.3	c.644T>C	726/1511	3	3			c.644T>C						4	SNP	c.(643-645)ATT>ACT	64	64				0	Broad	signal transducing adaptor family member 1			68449405		0.408	ENSG00000035720	15018	g.chr4:68449405T>C	cellular membrane fusion|intracellular protein transport	cytoplasm								13.452372	KEEP	4	5	-1	39	25	4	5	-1	23.221949	39	25	0.117647	1	0	0	0	0	1	0	0	0	--	--		0	C			STAP1_uc003hdf.2_Missense_Mutation_p.I215T	121	GBM-12-0688-TP	p.I215T	T	TCCATCACTATTCGGCAGGAG	NM_012108	NP_036240	68449405	Q9ULZ2	STAP1_HUMAN	0			6	726	+	C	C			Missense_Mutation	215			SH2.			
STAR	0	broad.mit.edu	GRCh37	8	38005844	38005844	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G			TCGA-27-2521-01	TCGA-27-2521-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276449.4:c.180T>C	p.Gly60=	p.G60=	ENST00000276449	NM_000349.2	60	ggT/ggC	0			1			G	G	uc003xkv.1	protein_coding	YES	CCDS6102.1			180/858									ovary(1)	1	c.(178-180)GGT>GGC			Low_complexity_(Seg):seg,hmmpanther:PTHR12136:SF9,hmmpanther:PTHR12136,Gene3D:3.30.530.20	steroidogenic acute regulatory protein isoform				ENSP00000276449		7-Mar									COSM3413000	7-Mar	.		ENST00000276449	Transcript	1		C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity	ENSG00000147465	g.chr8:38005844A>G	11359			LOW								--	--	1																																		STAR_uc010lwc.1_Silent_p.G22G	1	1			p.G60G	NM_001007243	NP_001007244			1	STAR_HUMAN	STAR	HGNC	P49675	STAR_HUMAN		READ - Rectum adenocarcinoma(644;0.188)	Q6QNJ9_HUMAN,Q6IBK0_HUMAN,E5RH12_HUMAN		3	444	-	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)	UPI000013DAC9	60					SNV	STAR,splice_region_variant,p.=,ENST00000276449,NM_000349.2;STAR,splice_region_variant,p.=,ENST00000522050,;STAR,5_prime_UTR_variant,,ENST00000521236,;RP11-90P5.2,upstream_gene_variant,,ENST00000520598,;STAR,non_coding_transcript_exon_variant,,ENST00000520114,;ASH2L,downstream_gene_variant,,ENST00000521808,;	uc003xkv.1	c.180T>C	627/1929	3	3			c.180T>C						8	SNP	c.(178-180)GGT>GGC	52	52			ovary(1)	1	Broad	steroidogenic acute regulatory protein isoform			38005844		0.577	ENSG00000147465	15020	g.chr8:38005844A>G	C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			134			134	33.71117	KEEP	11	11	-1	14	18	11	11	-1	34.28262	14	18	0.363636	1	0	0	0	0	0	0	1	0	--	--		0	G			STAR_uc010lwc.1_Silent_p.G22G	200	GBM-27-2521-TP	p.G60G	A	CTAGCCGAGAACCTGGATACA	NM_001007243	NP_001007244	38005844	P49675	STAR_HUMAN	0		READ - Rectum adenocarcinoma(644;0.188)	3	444	-	G	G	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)	Silent	60						
STARD13	90627	broad.mit.edu	GRCh37	13	33704189	33704189	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336934.5:c.625C>T	p.Arg209Cys	p.R209C	ENST00000336934	NM_178006.3	209	Cgc/Tgc	0			1			A	R/C	uc001uuw.2	protein_coding	YES	CCDS9348.1			625/3342									ovary(2)|pancreas(1)|skin(1)	4	c.(625-627)CGC>TGC			Low_complexity_(Seg):seg,hmmpanther:PTHR12659:SF6,hmmpanther:PTHR12659	StAR-related lipid transfer (START) domain				ENSP00000338785		14-May									COSM2149751	14-May	.		ENST00000336934	Transcript			regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	ENSG00000133121	g.chr13:33704189G>A	19164			MODERATE		2.14	medium	getma.org/?cm=msa&ty=f&p=STA13_HUMAN&rb=160&re=616&var=R209C	NA	getma.org/?cm=var&var=hg19,13,33704189,G,A&fts=all	R209C	--	--	1																																		STARD13_uc001uuu.2_Missense_Mutation_p.R201C|STARD13_uc001uuv.2_Missense_Mutation_p.R91C|STARD13_uc001uux.2_Missense_Mutation_p.R174C|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Missense_Mutation_p.R194C	1	1		probably_damaging(0.957)	p.R209C	NM_178006	NP_821074		tolerated(0.18)	1	STA13_HUMAN	STARD13	HGNC	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	B3KT04_HUMAN,B2R789_HUMAN		5	751	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	UPI000006226E	209					SNV	STARD13,missense_variant,p.Arg209Cys,ENST00000336934,NM_178006.3,NM_001243476.1;STARD13,missense_variant,p.Arg201Cys,ENST00000255486,NM_178007.2;STARD13,missense_variant,p.Arg91Cys,ENST00000399365,NM_052851.2;STARD13,missense_variant,p.Arg194Cys,ENST00000567873,;	uc001uuw.2	c.625C>T	742/5917	1	1			c.625C>T						13	SNP	c.(625-627)CGC>TGC	64	64			ovary(2)|pancreas(1)|skin(1)	4	Broad	StAR-related lipid transfer (START) domain			33704189		0.627	ENSG00000133121	15022	g.chr13:33704189G>A	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding							50.070603	KEEP	10	10	-1	16	7	10	10	-1	50.094813	16	7	0.472222	1	0	0	0	0	1	0	0	0	--	--		0	A			STARD13_uc001uuu.2_Missense_Mutation_p.R201C|STARD13_uc001uuv.2_Missense_Mutation_p.R91C|STARD13_uc001uux.2_Missense_Mutation_p.R174C|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Missense_Mutation_p.R194C	23	GBM-06-0145-TP	p.R209C	G	GGCTGGCTGCGACTGTCGCTG	NM_178006	NP_821074	33704189	Q9Y3M8	STA13_HUMAN	0		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	5	751	-	A	A	all_epithelial(80;0.155)	Lung SC(185;0.0367)	Missense_Mutation	209						
STARD13	90627	broad.mit.edu	GRCh37	13	33704214	33704214	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336934.5:c.600C>T	p.Ser200=	p.S200=	ENST00000336934	NM_178006.3	200	agC/agT	0			1			A	S	uc001uuw.2	protein_coding	YES	CCDS9348.1			600/3342									ovary(2)|pancreas(1)|skin(1)	4	c.(598-600)AGC>AGT			Low_complexity_(Seg):seg,hmmpanther:PTHR12659:SF6,hmmpanther:PTHR12659	StAR-related lipid transfer (START) domain				ENSP00000338785		14-May	8.24E-06							6.08E-05	rs778828160,COSM3399348	14-May	.		ENST00000336934	Transcript			regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	ENSG00000133121	g.chr13:33704214G>A	19164			LOW								--	--	1																																		STARD13_uc001uuu.2_Silent_p.S192S|STARD13_uc001uuv.2_Silent_p.S82S|STARD13_uc001uux.2_Silent_p.S165S|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Silent_p.S185S	0,1	1			p.S200S	NM_178006	NP_821074			0,1	STA13_HUMAN	STARD13	HGNC	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	B3KT04_HUMAN,B2R789_HUMAN		5	726	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	UPI000006226E	200					SNV	STARD13,synonymous_variant,p.=,ENST00000336934,NM_178006.3,NM_001243476.1;STARD13,synonymous_variant,p.=,ENST00000255486,NM_178007.2;STARD13,synonymous_variant,p.=,ENST00000399365,NM_052851.2;STARD13,synonymous_variant,p.=,ENST00000567873,;	uc001uuw.2	c.600C>T	717/5917	1	1			c.600C>T						13	SNP	c.(598-600)AGC>AGT	62	62			ovary(2)|pancreas(1)|skin(1)	4	Broad	StAR-related lipid transfer (START) domain			33704214		0.627	ENSG00000133121	15022	g.chr13:33704214G>A	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding							47.884565	KEEP	7	11	-1	6	9	7	11	-1	47.950427	6	9	0.551724	1	0	0	0	0	0	0	1	0	--	--		0	A			STARD13_uc001uuu.2_Silent_p.S192S|STARD13_uc001uuv.2_Silent_p.S82S|STARD13_uc001uux.2_Silent_p.S165S|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Silent_p.S185S	102	GBM-06-5858-TP	p.S200S	G	CACTGCTTTCGCTGTGAATGG	NM_178006	NP_821074	33704214	Q9Y3M8	STA13_HUMAN	0		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	5	726	-	A	A	all_epithelial(80;0.155)	Lung SC(185;0.0367)	Silent	200						
STARD13	90627		GRCh37	13	33685935	33685935	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000336934.5:c.2587G>T	p.Glu863Ter	p.E863*	ENST00000336934	NM_178006.3	863	Gaa/Taa	0																																																																																																																																																																																																																																												
STARD3NL	83930	broad.mit.edu	GRCh37	7	38247143	38247143	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0211-01	TCGA-06-0211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000009041.7:c.38C>A	p.Thr13Asn	p.T13N	ENST00000009041	NM_032016.3	13	aCc/aAc	0			1			A	T/N	uc003tfr.2	protein_coding	YES	CCDS5455.1			38/705									ovary(1)	1	c.(37-39)ACC>AAC			hmmpanther:PTHR12136	MLN64 N-terminal homolog				ENSP00000009041		9-Feb									COSM2150799	9-Feb	.		ENST00000009041	Transcript				integral to membrane|late endosome membrane		ENSG00000010270	g.chr7:38247143C>A	19169			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=MENTO_HUMAN&rb=1&re=48&var=T13N	NA	getma.org/?cm=var&var=hg19,7,38247143,C,A&fts=all	T13N	--	--	1																																		STARD3NL_uc003tfs.2_Missense_Mutation_p.T13N|STARD3NL_uc003tft.2_Missense_Mutation_p.T13N	1	1		benign(0.001)	p.T13N	NM_032016	NP_114405		tolerated(0.5)	1	MENTO_HUMAN	STARD3NL	HGNC	O95772	MENTO_HUMAN			C9JPX5_HUMAN,C9JJ39_HUMAN,C9J3F5_HUMAN,A4D1X0_HUMAN		2	186	+			UPI000000DCAC	13			Cytoplasmic (Potential).		SNV	STARD3NL,missense_variant,p.Thr13Asn,ENST00000009041,NM_032016.3;STARD3NL,missense_variant,p.Thr6Asn,ENST00000544203,;STARD3NL,missense_variant,p.Thr13Asn,ENST00000396013,;STARD3NL,missense_variant,p.Thr13Asn,ENST00000434197,;STARD3NL,missense_variant,p.Thr13Asn,ENST00000453225,;STARD3NL,missense_variant,p.Thr13Asn,ENST00000429075,;STARD3NL,missense_variant,p.Thr13Asn,ENST00000440144,;STARD3NL,non_coding_transcript_exon_variant,,ENST00000471550,;	uc003tfr.2	c.38C>A	295/1728	1	1			c.38C>A						7	SNP	c.(37-39)ACC>AAC	63	63			ovary(1)	1	Broad	MLN64 N-terminal homolog			38247143		0.512	ENSG00000010270	15024	g.chr7:38247143C>A		integral to membrane|late endosome membrane								116.541116	KEEP	23	19	0.452380952	42	72	23	19	0.452380952	122.156474	42	72	0.28777	1	0	0	0	0	1	0	0	0	--	--		0	A			STARD3NL_uc003tfs.2_Missense_Mutation_p.T13N|STARD3NL_uc003tft.2_Missense_Mutation_p.T13N	48	GBM-06-0211-TP	p.T13N	C	AACGCTCTCACCGGGAGCCAG	NM_032016	NP_114405	38247143	O95772	MENTO_HUMAN	0			2	186	+	A	A			Missense_Mutation	13			Cytoplasmic (Potential).			
STARD3NL	0	broad.mit.edu	GRCh37	7	38254036	38254039	+	splice_donor_variant,intron_variant	Splice_Site	DEL	GTAA	GTAA	-			TCGA-19-1790-01	TCGA-19-1790-01	GTAA	GTAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000009041.7:c.303+4_303+7delAGTA		p.X101_splice	ENST00000009041	NM_032016.3			0			1			-		uc003tfr.2	protein_coding	YES	CCDS5455.1			303/705									ovary(1)	1	c.e3+1				MLN64 N-terminal homolog				ENSP00000009041													.		ENST00000009041	Transcript				integral to membrane|late endosome membrane		ENSG00000010270	g.chr7:38254036_38254039delGTAA	19169	3		HIGH	8-Mar							--	--	1																																		STARD3NL_uc003tfs.2_Splice_Site_p.F101_splice|STARD3NL_uc003tft.2_Splice_Site_p.F101_splice		1			p.F101_splice	NM_032016	NP_114405				MENTO_HUMAN	STARD3NL	HGNC	O95772	MENTO_HUMAN			C9JPX5_HUMAN,C9JJ39_HUMAN,C9J3F5_HUMAN,A4D1X0_HUMAN		3	451	+			UPI000000DCAC						deletion	STARD3NL,splice_donor_variant,,ENST00000009041,NM_032016.3;STARD3NL,splice_donor_variant,,ENST00000544203,;STARD3NL,splice_donor_variant,,ENST00000396013,;STARD3NL,splice_donor_variant,,ENST00000434197,;STARD3NL,splice_donor_variant,,ENST00000453225,;STARD3NL,splice_donor_variant,,ENST00000429075,;STARD3NL,splice_donor_variant,,ENST00000440144,;STARD3NL,splice_donor_variant,,ENST00000471550,;	uc003tfr.2	c.303_splice	-/1728	5	5			c.303_splice						7	DEL	c.e3+1	53	53			ovary(1)	1	Broad	MLN64 N-terminal homolog			38254039		0.338	ENSG00000010270	15024	g.chr7:38254036_38254039delGTAA		integral to membrane|late endosome membrane																					0.17	1	1	0	1	0	0	0	0	1	--	--		0	-			STARD3NL_uc003tfs.2_Splice_Site_p.F101_splice|STARD3NL_uc003tft.2_Splice_Site_p.F101_splice	160	GBM-19-1790-TP	p.F101_splice	GTAA	TGATATATTTGTAAGTATTTTTTA	NM_032016	NP_114405	38254036	O95772	MENTO_HUMAN	0			3	451	+	-	-			Splice_Site							
STARD4	134429	broad.mit.edu	GRCh37	5	110842033	110842033	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-06-5417-01	TCGA-06-5417-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296632.3:c.150A>C	p.Gly50=	p.G50=	ENST00000296632	NM_139164.1	50	ggA/ggC	0			1			G	G	uc003kph.1	protein_coding	YES	CCDS4104.1			150/618									ovary(1)	1	c.(148-150)GGA>GGC			Gene3D:3.30.530.20,Pfam_domain:PF01852,PROSITE_profiles:PS50848,hmmpanther:PTHR12136,hmmpanther:PTHR12136:SF46,SMART_domains:SM00234,Superfamily_domains:SSF55961	StAR-related lipid transfer (START) domain				ENSP00000296632		6-Mar									COSM2153275	6-Mar	.		ENST00000296632	Transcript			lipid transport		lipid binding	ENSG00000164211	g.chr5:110842033T>G	18058			LOW								--	--	1																																		STARD4_uc010jbw.1_5'UTR|STARD4_uc010jbx.1_5'UTR|STARD4_uc003kpi.1_RNA|STARD4_uc003kpj.2_Silent_p.G50G	1	1			p.G50G	NM_139164	NP_631903			1	STAR4_HUMAN	STARD4	HGNC	Q96DR4	STAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)	Q86T95_HUMAN,D6RIC8_HUMAN,B0AZS2_HUMAN		3	234	-		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)	UPI0000136135	50			START.		SNV	STARD4,synonymous_variant,p.=,ENST00000296632,NM_139164.1;STARD4,synonymous_variant,p.=,ENST00000512160,;STARD4,synonymous_variant,p.=,ENST00000502322,;STARD4,synonymous_variant,p.=,ENST00000509887,;STARD4,synonymous_variant,p.=,ENST00000505803,;STARD4,non_coding_transcript_exon_variant,,ENST00000511569,;STARD4,non_coding_transcript_exon_variant,,ENST00000502931,;STARD4,non_coding_transcript_exon_variant,,ENST00000510346,;STARD4,non_coding_transcript_exon_variant,,ENST00000511436,;STARD4,synonymous_variant,p.=,ENST00000511137,;STARD4,synonymous_variant,p.=,ENST00000455172,;STARD4,non_coding_transcript_exon_variant,,ENST00000508215,;	uc003kph.1	c.150A>C	285/4606	3	3			c.150A>C						5	SNP	c.(148-150)GGA>GGC	11	11			ovary(1)	1	Broad	StAR-related lipid transfer (START) domain			110842033		0.303	ENSG00000164211	15025	g.chr5:110842033T>G	lipid transport		lipid binding							87.31706	KEEP	12	17	-1	23	18	12	17	-1	87.859017	23	18	0.396552	1	0	0	0	0	0	0	1	0	--	--		0	G			STARD4_uc010jbw.1_5'UTR|STARD4_uc010jbx.1_5'UTR|STARD4_uc003kpi.1_RNA|STARD4_uc003kpj.2_Silent_p.G50G	99	GBM-06-5417-TP	p.G50G	T	CTTACAGATATCCATTAAATT	NM_139164	NP_631903	110842033	Q96DR4	STAR4_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)	3	234	-	G	G		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)	Silent	50			START.			
STARD7-AS1	0	broad.mit.edu	GRCh37	2	96906137	96906137	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T			TCGA-06-6700-01	TCGA-06-6700-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000432267.2:n.687C>T		*229*	ENST00000432267				0			1			T		uc002svp.1	retained_intron	YES														0	c.(76-78)CGA>TGA				hypothetical protein LOC285033						2-Jan										2-Jan	.		ENST00000432267	Transcript						ENSG00000204685	g.chr2:96906137C>T	40827			MODIFIER								--	--	1																																		LOC285033_uc002svn.2_RNA|LOC285033_uc002svo.2_Intron		1			p.R26*	NM_001037228	NP_001032305					STARD7-AS1	HGNC	Q3KRF4	Q3KRF4_HUMAN					1	161	+				26					SNV	STARD7-AS1,intron_variant,,ENST00000446816,;STARD7-AS1,non_coding_transcript_exon_variant,,ENST00000432267,;	uc002svp.1	c.76C>T	687/1721	5	2			c.76C>T						2	SNP	c.(76-78)CGA>TGA	47	47				0	Broad	hypothetical protein LOC285033			96906137		0.408	ENSG00000204685	8714	g.chr2:96906137C>T										34.480998	KEEP	8	7	-1	38	34	8	7	-1	40.963746	38	34	0.197368	1	0	0	0	0	0	1	0	0	--	--		0	T			LOC285033_uc002svn.2_RNA|LOC285033_uc002svo.2_Intron	114	GBM-06-6700-TP	p.R26*	C	TAATTTCTTCCGAATTCAAAA	NM_001037228	NP_001032305	96906137	Q3KRF4	Q3KRF4_HUMAN	0			1	161	+	T	T			Nonsense_Mutation	26						
STARD8	9754	broad.mit.edu	GRCh37	X	67943638	67943638	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-06-5417-01	TCGA-06-5417-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374599.3:c.2970C>G	p.Val990=	p.V990=	ENST00000374599	NM_001142503.2	990	gtC/gtG	0			1			G	V	uc004dxa.2	protein_coding		CCDS14390.1			2730/3072									breast(3)|ovary(2)|pancreas(1)	6	c.(2728-2730)GTC>GTG			Gene3D:3.30.530.20,Pfam_domain:PF01852,PROSITE_profiles:PS50848,hmmpanther:PTHR12659,hmmpanther:PTHR12659:SF3,SMART_domains:SM00234,Superfamily_domains:SSF55961	StAR-related lipid transfer (START) domain				ENSP00000252336		14-Dec									COSM3406540,COSM3406541,COSM3406539	14-Dec	.		ENST00000252336	Transcript			regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	ENSG00000130052	g.chrX:67943638C>G	19161			LOW								--	--	1																																		STARD8_uc004dxb.2_Silent_p.V990V|STARD8_uc004dxc.3_Silent_p.V910V	1,1,1				p.V910V	NM_014725	NP_055540			1,1,1	STAR8_HUMAN	STARD8	HGNC	Q92502	STAR8_HUMAN					12	3102	+			UPI000016A011	910			START.		SNV	STARD8,synonymous_variant,p.=,ENST00000252336,NM_014725.4;STARD8,synonymous_variant,p.=,ENST00000374599,NM_001142503.2;STARD8,synonymous_variant,p.=,ENST00000374597,NM_001142504.2;STARD8,3_prime_UTR_variant,,ENST00000523864,;	uc004dxa.2	c.2730C>G	3102/4862	3	3			c.2730C>G						23	SNP	c.(2728-2730)GTC>GTG	61	61			breast(3)|ovary(2)|pancreas(1)	6	Broad	StAR-related lipid transfer (START) domain			67943638		0.652	ENSG00000130052	15029	g.chrX:67943638C>G	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity							6.446258	KEEP	1	1	-1	2	4	1	1	-1	6.900597	2	4	0.25	1	0	0	0	0	0	0	1	0	--	--		0	G			STARD8_uc004dxb.2_Silent_p.V990V|STARD8_uc004dxc.3_Silent_p.V910V	99	GBM-06-5417-TP	p.V910V	C	ACCACTATGTCACCGACAGCA	NM_014725	NP_055540	67943638	Q92502	STAR8_HUMAN	0			12	3102	+	G	G			Silent	910			START.			
STARD8	0	broad.mit.edu	GRCh37	X	67937331	67937331	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01	TCGA-76-4934-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252336.6:c.335G>A	p.Gly112Asp	p.G112D	ENST00000252336	NM_014725.4	112	gGc/gAc	0		A:0	1	A:0		A	G/D	uc004dxa.2	protein_coding		CCDS14390.1			335/3072									breast(3)|ovary(2)|pancreas(1)	6	c.(334-336)GGC>GAC			hmmpanther:PTHR12659,hmmpanther:PTHR12659:SF3	StAR-related lipid transfer (START) domain		A:0.001		ENSP00000252336	A:0	14-May	8.24E-06			0.000152					rs200556349,COSM3406537,COSM3406538,COSM3406536	14-May	.		ENST00000252336	Transcript		A:0.0003	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	ENSG00000130052	g.chrX:67937331G>A	19161			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=STAR8_HUMAN&rb=51&re=525&var=G112D	NA	getma.org/?cm=var&var=hg19,X,67937331,G,A&fts=all	G112D	--	--	1																																		STARD8_uc004dxb.2_Missense_Mutation_p.G192D|STARD8_uc004dxc.3_Missense_Mutation_p.G112D	0,1,1,1			benign(0.007)	p.G112D	NM_014725	NP_055540	A:0	tolerated(0.31)	0,1,1,1	STAR8_HUMAN	STARD8	HGNC	Q92502	STAR8_HUMAN					5	707	+			UPI000016A011	112					SNV	STARD8,missense_variant,p.Gly112Asp,ENST00000252336,NM_014725.4;STARD8,missense_variant,p.Gly192Asp,ENST00000374599,NM_001142503.2;STARD8,missense_variant,p.Gly112Asp,ENST00000374597,NM_001142504.2;STARD8,3_prime_UTR_variant,,ENST00000523864,;	uc004dxa.2	c.335G>A	707/4862	1	1			c.335G>A						23	SNP	c.(334-336)GGC>GAC	61	61			breast(3)|ovary(2)|pancreas(1)	6	Broad	StAR-related lipid transfer (START) domain			67937331		0.637	ENSG00000130052	15029	g.chrX:67937331G>A	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity							179.046322	KEEP	34	32	-1	31	31	34	32	-1	179.064562	31	31	0.513043	1	0	0	0	0	1	0	0	0	--	--		0	A			STARD8_uc004dxb.2_Missense_Mutation_p.G192D|STARD8_uc004dxc.3_Missense_Mutation_p.G112D	272	GBM-76-4934-TP	p.G112D	G	CCCACCCAGGGCCAGGAGGGT	NM_014725	NP_055540	67937331	Q92502	STAR8_HUMAN	0			5	707	+	A	A			Missense_Mutation	112						
STAT1	0	broad.mit.edu	GRCh37	2	191862990	191862990	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361099.3:c.586C>T	p.Gln196Ter	p.Q196*	ENST00000361099	NM_007315.3	196	Cag/Tag	0			1			A	Q/*	uc002usj.2	protein_coding	YES	CCDS2309.1			586/2253									lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10	c.(586-588)CAG>TAG			Superfamily_domains:SSF47655,Gene3D:1bg1A01,Pfam_domain:PF01017,hmmpanther:PTHR11801,hmmpanther:PTHR11801:SF18	signal transducer and activator of transcription	Fludarabine(DB01073)			ENSP00000354394		25-Aug									COSM3407423	25-Aug	.		ENST00000361099	Transcript	1		activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	ENSG00000115415	g.chr2:191862990G>A	11362			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,191862990,G,A&fts=all	Q196*	--	--	1																																		STAT1_uc010fse.1_Nonsense_Mutation_p.Q196*|STAT1_uc002usk.2_Nonsense_Mutation_p.Q196*|STAT1_uc002usl.2_Nonsense_Mutation_p.Q198*|STAT1_uc010fsf.1_Intron	1	1			p.Q196*	NM_007315	NP_009330			1	STAT1_HUMAN	STAT1	HGNC	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Q67C41_HUMAN,E9PH66_HUMAN,E7EPD2_HUMAN,E7ENM1_HUMAN		8	974	-			UPI00000473FB	196					SNV	STAT1,stop_gained,p.Gln196Ter,ENST00000361099,NM_007315.3;STAT1,stop_gained,p.Gln196Ter,ENST00000409465,;STAT1,stop_gained,p.Gln198Ter,ENST00000392323,;STAT1,stop_gained,p.Gln196Ter,ENST00000392322,NM_139266.2;STAT1,intron_variant,,ENST00000540176,;STAT1,downstream_gene_variant,,ENST00000424722,;STAT1,downstream_gene_variant,,ENST00000454414,;STAT1,intron_variant,,ENST00000452281,;AC067945.3,upstream_gene_variant,,ENST00000342609,;	uc002usj.2	c.586C>T	974/4310	5	1			c.586C>T						2	SNP	c.(586-588)CAG>TAG	63	63			lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10	Broad	signal transducer and activator of transcription		Fludarabine(DB01073)	191862990		0.343	ENSG00000115415	15030	g.chr2:191862990G>A	activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			350			350	-37.902084	KEEP	4	2	-1	105	116	4	2	-1	8.108454	105	116	0.026882	1	0	0	0	0	0	1	0	0	--	--		0	A			STAT1_uc010fse.1_Nonsense_Mutation_p.Q196*|STAT1_uc002usk.2_Nonsense_Mutation_p.Q196*|STAT1_uc002usl.2_Nonsense_Mutation_p.Q198*|STAT1_uc010fsf.1_Intron	240	GBM-32-2632-TP	p.Q196*	G	AGTAACAGCTGTTCTTGTTTC	NM_007315	NP_009330	191862990	P42224	STAT1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		8	974	-	A	A			Nonsense_Mutation	196						
STAT2	0	broad.mit.edu	GRCh37	12	56748251	56748251	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-1970-01	TCGA-32-1970-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314128.4:c.781T>C	p.Trp261Arg	p.W261R	ENST00000314128		261	Tgg/Cgg	0			1			G	W/R	uc001slc.2	protein_coding	YES	CCDS8917.1			781/2556									ovary(1)|lung(1)|kidney(1)	3	c.(781-783)TGG>CGG			hmmpanther:PTHR11801,hmmpanther:PTHR11801:SF41,Pfam_domain:PF01017,Gene3D:1bg1A01,Superfamily_domains:SSF47655	signal transducer and activator of transcription				ENSP00000315768		24-Aug									COSM3398901	24-Aug	.		ENST00000314128	Transcript			interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	ENSG00000170581	g.chr12:56748251A>G	11363			MODERATE		2.69	medium	getma.org/?cm=msa&ty=f&p=STAT2_HUMAN&rb=139&re=314&var=W261R	getma.org/pdb.php?prot=STAT2_HUMAN&from=139&to=314&var=W261R	getma.org/?cm=var&var=hg19,12,56748251,A,G&fts=all	W261R	--	--	1																																		STAT2_uc001sld.2_Missense_Mutation_p.W257R|STAT2_uc010sqn.1_Missense_Mutation_p.W257R	1	1		probably_damaging(0.986)	p.W261R	NM_005419	NP_005410		deleterious(0.01)	1	STAT2_HUMAN	STAT2	HGNC	P52630	STAT2_HUMAN			R9QG81_HUMAN,R9QE65_HUMAN,Q6LD48_HUMAN		8	859	-			UPI00000473FC	261					SNV	STAT2,missense_variant,p.Trp261Arg,ENST00000314128,;STAT2,missense_variant,p.Trp257Arg,ENST00000557235,NM_005419.3,NM_198332.1;STAT2,missense_variant,p.Trp257Arg,ENST00000418572,;RNU7-40P,upstream_gene_variant,,ENST00000516397,;STAT2,non_coding_transcript_exon_variant,,ENST00000557156,;STAT2,upstream_gene_variant,,ENST00000556539,;STAT2,upstream_gene_variant,,ENST00000557252,;STAT2,splice_region_variant,,ENST00000556140,;STAT2,splice_region_variant,,ENST00000555519,;STAT2,downstream_gene_variant,,ENST00000557417,;STAT2,downstream_gene_variant,,ENST00000555646,;	uc001slc.2	c.781T>C	805/3259	4	4			c.781T>C						12	SNP	c.(781-783)TGG>CGG	26	26			ovary(1)|lung(1)|kidney(1)	3	Broad	signal transducer and activator of transcription			56748251		0.527	ENSG00000170581	15031	g.chr12:56748251A>G	interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity							-27.795598	KEEP	2	1	-1	81	74	2	1	-1	6.586664	81	74	0.022222	1	0	0	0	0	1	0	0	0	--	--		0	G			STAT2_uc001sld.2_Missense_Mutation_p.W257R|STAT2_uc010sqn.1_Missense_Mutation_p.W257R	228	GBM-32-1970-TP	p.W261R	A	ACCTCTCACCATGTCTCCAGC	NM_005419	NP_005410	56748251	P52630	STAT2_HUMAN	0			8	859	-	G	G			Missense_Mutation	261						
STAT3	0	broad.mit.edu	GRCh37	17	40474479	40474479	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264657.5:c.1922C>T	p.Thr641Ile	p.T641I	ENST00000264657	NM_139276.2	641	aCa/aTa	0			1			A	T/I	uc002hzl.1	protein_coding	YES	CCDS32656.1			1922/2313									ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4	c.(1921-1923)ACA>ATA			PROSITE_profiles:PS50001,hmmpanther:PTHR11801:SF2,hmmpanther:PTHR11801,Gene3D:3.30.505.10,Pfam_domain:PF00017,Superfamily_domains:SSF55550	signal transducer and activator of transcription				ENSP00000264657		21/24									COSM3402905	21/24	.	Hyperimmunoglobulin_E_Recurrent_Infection_Syndrome	ENST00000264657	Transcript	1		cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	ENSG00000168610	g.chr17:40474479G>A	11364			MODERATE		2.24	medium	getma.org/?cm=msa&ty=f&p=STAT3_HUMAN&rb=584&re=674&var=T641I	getma.org/pdb.php?prot=STAT3_HUMAN&from=584&to=674&var=T641I	getma.org/?cm=var&var=hg19,17,40474479,G,A&fts=all	T641I	--	--	1																																		STAT3_uc002hzk.1_Missense_Mutation_p.T641I|STAT3_uc002hzm.1_Missense_Mutation_p.T641I|STAT3_uc010wgh.1_Missense_Mutation_p.T543I|STAT3_uc002hzn.1_Missense_Mutation_p.T641I	1	1		probably_damaging(0.999)	p.T641I	NM_139276	NP_644805		deleterious(0)	1	STAT3_HUMAN	STAT3	HGNC	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	G8JLH9_HUMAN		21	2162	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	UPI0000031047	641			SH2.		SNV	STAT3,missense_variant,p.Thr641Ile,ENST00000264657,NM_139276.2,NM_003150.3;STAT3,missense_variant,p.Thr641Ile,ENST00000585517,NM_213662.1;STAT3,missense_variant,p.Thr641Ile,ENST00000588969,;STAT3,missense_variant,p.Thr641Ile,ENST00000404395,;STAT3,missense_variant,p.Thr543Ile,ENST00000389272,;STAT3,downstream_gene_variant,,ENST00000471989,;STAT3,upstream_gene_variant,,ENST00000462269,;STAT3,downstream_gene_variant,,ENST00000498330,;	uc002hzl.1	c.1922C>T	2235/5047	2	2			c.1922C>T						17	SNP	c.(1921-1923)ACA>ATA	17	17			ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4	Broad	signal transducer and activator of transcription			40474479	Hyperimmunoglobulin_E_Recurrent_Infection_Syndrome	0.463	ENSG00000168610	15032	g.chr17:40474479G>A	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			793			793	27.098782	KEEP	14	26	-1	164	170	14	26	-1	75.884766	164	170	0.106918	1	0	0	0	0	1	0	0	0	--	--		0	A			STAT3_uc002hzk.1_Missense_Mutation_p.T641I|STAT3_uc002hzm.1_Missense_Mutation_p.T641I|STAT3_uc010wgh.1_Missense_Mutation_p.T543I|STAT3_uc002hzn.1_Missense_Mutation_p.T641I	129	GBM-12-5295-TP	p.T641I	G	CTGCTGCTTTGTGTATGGTTC	NM_139276	NP_644805	40474479	P40763	STAT3_HUMAN	0		BRCA - Breast invasive adenocarcinoma(366;0.139)	21	2162	-	A	A		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	Missense_Mutation	641			SH2.			
STAT4	0	broad.mit.edu	GRCh37	2	192011451	192011451	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1835-01	TCGA-27-1835-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358470.4:c.161C>T	p.Thr54Met	p.T54M	ENST00000358470	NM_001243835.1	54	aCg/aTg	0			1			A	T/M	uc002usm.1	protein_coding		CCDS2310.1			161/2247									breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9	c.(160-162)ACG>ATG			Superfamily_domains:0035539,Gene3D:1bgfA00,Pfam_domain:PF02865,hmmpanther:PTHR11801,hmmpanther:PTHR11801:SF19,SMART_domains:SM00964	signal transducer and activator of transcription				ENSP00000351255		24-Mar	4.12E-05	9.65E-05				3.02E-05		0.000122	rs750095435,COSM2157267	24-Mar	.		ENST00000358470	Transcript	1		JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	ENSG00000138378	g.chr2:192011451G>A	11365			MODERATE		1.585	low	getma.org/?cm=msa&ty=f&p=STAT4_HUMAN&rb=2&re=122&var=T54M	getma.org/pdb.php?prot=STAT4_HUMAN&from=2&to=122&var=T54M	getma.org/?cm=var&var=hg19,2,192011451,G,A&fts=all	T54M	--	--	1																																		STAT4_uc010zgm.1_RNA|STAT4_uc010zgn.1_RNA|STAT4_uc010zgo.1_RNA|STAT4_uc002usn.1_Missense_Mutation_p.T54M|STAT4_uc002uso.2_Missense_Mutation_p.T54M|STAT4_uc002usp.3_Missense_Mutation_p.T54M|STAT4_uc010zgl.1_Missense_Mutation_p.T54M	0,1			possibly_damaging(0.576)	p.T54M	NM_003151	NP_003142		tolerated(0.15)	0,1	STAT4_HUMAN	STAT4	HGNC	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		Q53S87_HUMAN,Q53RU2_HUMAN,E9PBE2_HUMAN,C9JM11_HUMAN,C9JFG0_HUMAN,B7SIX5_HUMAN		3	415	-			UPI00000015F2	54					SNV	STAT4,missense_variant,p.Thr54Met,ENST00000392320,NM_003151.3;STAT4,missense_variant,p.Thr54Met,ENST00000358470,NM_001243835.1;STAT4,missense_variant,p.Thr54Met,ENST00000409995,;STAT4,missense_variant,p.Thr54Met,ENST00000450994,;STAT4,missense_variant,p.Thr27Met,ENST00000413064,;STAT4,downstream_gene_variant,,ENST00000432798,;STAT4,non_coding_transcript_exon_variant,,ENST00000495849,;STAT4,non_coding_transcript_exon_variant,,ENST00000495326,;	uc002usm.1	c.161C>T	419/2769	2	2			c.161C>T						2	SNP	c.(160-162)ACG>ATG	20	20			breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9	Broad	signal transducer and activator of transcription			192011451		0.323	ENSG00000138378	15033	g.chr2:192011451G>A	JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity							88.739281	KEEP	18	18	-1	27	25	18	18	-1	89.393695	27	25	0.4	1	0	0	0	0	1	0	0	0	--	--		0	A			STAT4_uc010zgm.1_RNA|STAT4_uc010zgn.1_RNA|STAT4_uc010zgo.1_RNA|STAT4_uc002usn.1_Missense_Mutation_p.T54M|STAT4_uc002uso.2_Missense_Mutation_p.T54M|STAT4_uc002usp.3_Missense_Mutation_p.T54M|STAT4_uc010zgl.1_Missense_Mutation_p.T54M	194	GBM-27-1835-TP	p.T54M	G	AAGAAGAATCGTTGCCATGGT	NM_003151	NP_003142	192011451	Q14765	STAT4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		3	415	-	A	A			Missense_Mutation	54						
STAT4	0	broad.mit.edu	GRCh37	2	191926501	191926501	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-2632-01	TCGA-32-2632-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358470.4:c.988A>G	p.Arg330Gly	p.R330G	ENST00000358470	NM_001243835.1	330	Agg/Ggg	0			1			C	R/G	uc002usm.1	protein_coding		CCDS2310.1			988/2247									breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9	c.(988-990)AGG>GGG			Gene3D:2.60.40.630,Pfam_domain:PF02864,hmmpanther:PTHR11801,hmmpanther:PTHR11801:SF19,Superfamily_domains:SSF49417	signal transducer and activator of transcription				ENSP00000351255		24-Oct									COSM3407424	24-Oct	.		ENST00000358470	Transcript	1		JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	ENSG00000138378	g.chr2:191926501T>C	11365			MODERATE		1.755	low	getma.org/?cm=msa&ty=f&p=STAT4_HUMAN&rb=316&re=563&var=R330G	getma.org/pdb.php?prot=STAT4_HUMAN&from=316&to=563&var=R330G	getma.org/?cm=var&var=hg19,2,191926501,T,C&fts=all	R330G	--	--	1																																		STAT4_uc002usn.1_Missense_Mutation_p.R330G|STAT4_uc010zgk.1_Missense_Mutation_p.R175G|STAT4_uc002uso.2_Missense_Mutation_p.R330G	1			probably_damaging(0.999)	p.R330G	NM_003151	NP_003142		tolerated(0.26)	1	STAT4_HUMAN	STAT4	HGNC	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		Q53S87_HUMAN,Q53RU2_HUMAN,E9PBE2_HUMAN,C9JM11_HUMAN,C9JFG0_HUMAN,B7SIX5_HUMAN		10	1242	-			UPI00000015F2	330					SNV	STAT4,missense_variant,p.Arg330Gly,ENST00000392320,NM_003151.3;STAT4,missense_variant,p.Arg330Gly,ENST00000358470,NM_001243835.1;STAT4,non_coding_transcript_exon_variant,,ENST00000495849,;	uc002usm.1	c.988A>G	1246/2769	3	3			c.988A>G						2	SNP	c.(988-990)AGG>GGG	8	8			breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9	Broad	signal transducer and activator of transcription			191926501		0.403	ENSG00000138378	15033	g.chr2:191926501T>C	JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity							-115.093118	KEEP	5	1	-1	259	274	5	1	-1	10.407813	259	274	0.012987	1	0	0	0	0	1	0	0	0	--	--		0	C			STAT4_uc002usn.1_Missense_Mutation_p.R330G|STAT4_uc010zgk.1_Missense_Mutation_p.R175G|STAT4_uc002uso.2_Missense_Mutation_p.R330G	240	GBM-32-2632-TP	p.R330G	T	ACCAACGGCCTCTGAGGGTGG	NM_003151	NP_003142	191926501	Q14765	STAT4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		10	1242	-	C	C			Missense_Mutation	330						
STAT5B	6777		GRCh37	17	40370236	40370236	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000293328.3:c.1102del	p.Gln368ArgfsTer2	p.Q368Rfs*2	ENST00000293328	NM_012448.3	368	Cag/ag	0																																																																																																																																																																																																																																												
STAT6	0	broad.mit.edu	GRCh37	12	57490672	57490672	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5133-01	TCGA-26-5133-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300134.3:c.2315G>A	p.Cys772Tyr	p.C772Y	ENST00000300134	NM_001178078.1	772	tGc/tAc	0			1			T	C/Y	uc009zpe.2	protein_coding	YES	CCDS8931.1			2315/2544									ovary(2)|lung(1)|skin(1)	4	c.(2314-2316)TGC>TAC			Pfam_domain:PF14596	signal transducer and activator of transcription				ENSP00000300134		21/22									COSM3398920	21/22	.		ENST00000300134	Transcript	1		regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	ENSG00000166888	g.chr12:57490672C>T	11368			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=STAT6_HUMAN&rb=711&re=846&var=C772Y	NA	getma.org/?cm=var&var=hg19,12,57490672,C,T&fts=all	C772Y	--	--	1																																		STAT6_uc009zpf.2_Missense_Mutation_p.C772Y|STAT6_uc001sna.2_Missense_Mutation_p.C772Y|STAT6_uc010srb.1_Missense_Mutation_p.C662Y|STAT6_uc010src.1_Missense_Mutation_p.C662Y|STAT6_uc010srd.1_Missense_Mutation_p.C662Y|STAT6_uc009zpg.2_Missense_Mutation_p.C821Y	1	1		possibly_damaging(0.646)	p.C772Y	NM_003153	NP_003144		tolerated_low_confidence(0.37)	1	STAT6_HUMAN	STAT6	HGNC	P42226	STAT6_HUMAN			Q6LCD8_HUMAN,Q5FBW6_HUMAN,G3V5K5_HUMAN,G3V568_HUMAN,G3V3E9_HUMAN,G3V370_HUMAN,G3V2X7_HUMAN,G3V2M3_HUMAN,G3V2L2_HUMAN,G3V2H4_HUMAN		21	2566	-			UPI00000473FE	772					SNV	STAT6,missense_variant,p.Cys772Tyr,ENST00000300134,NM_001178078.1,NM_003153.4;STAT6,missense_variant,p.Cys772Tyr,ENST00000543873,NM_001178079.1;STAT6,missense_variant,p.Cys772Tyr,ENST00000454075,;STAT6,missense_variant,p.Cys772Tyr,ENST00000556155,;STAT6,missense_variant,p.Cys662Tyr,ENST00000537215,NM_001178080.1;STAT6,missense_variant,p.Cys662Tyr,ENST00000538913,NM_001178081.1;NAB2,downstream_gene_variant,,ENST00000300131,NM_005967.3;NAB2,downstream_gene_variant,,ENST00000357680,;NAB2,downstream_gene_variant,,ENST00000342556,;STAT6,downstream_gene_variant,,ENST00000553533,;STAT6,downstream_gene_variant,,ENST00000555375,;STAT6,downstream_gene_variant,,ENST00000555318,;STAT6,3_prime_UTR_variant,,ENST00000554764,;STAT6,non_coding_transcript_exon_variant,,ENST00000555222,;STAT6,non_coding_transcript_exon_variant,,ENST00000557563,;NAB2,downstream_gene_variant,,ENST00000554839,;STAT6,downstream_gene_variant,,ENST00000554202,;	uc009zpe.2	c.2315G>A	2641/4034	1	1			c.2315G>A						12	SNP	c.(2314-2316)TGC>TAC	4	4			ovary(2)|lung(1)|skin(1)	4	Broad	signal transducer and activator of transcription			57490672		0.642	ENSG00000166888	15036	g.chr12:57490672C>T	regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			241			241	3.002838	KEEP	2	4	-1	26	40	2	4	-1	12.345122	26	40	0.101695	1	0	0	0	0	1	0	0	0	--	--		0	T			STAT6_uc009zpf.2_Missense_Mutation_p.C772Y|STAT6_uc001sna.2_Missense_Mutation_p.C772Y|STAT6_uc010srb.1_Missense_Mutation_p.C662Y|STAT6_uc010src.1_Missense_Mutation_p.C662Y|STAT6_uc010srd.1_Missense_Mutation_p.C662Y|STAT6_uc009zpg.2_Missense_Mutation_p.C821Y	182	GBM-26-5133-TP	p.C772Y	C	CTGGCTCAGGCAGCTGTCTTC	NM_003153	NP_003144	57490672	P42226	STAT6_HUMAN	0			21	2566	-	T	T			Missense_Mutation	772						
STAU1	0	broad.mit.edu	GRCh37	20	47741010	47741010	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01	TCGA-28-2514-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371856.2:c.724G>A	p.Ala242Thr	p.A242T	ENST00000371856	NM_017453.2	242	Gcc/Acc	0			1			T	A/T	uc002xud.2	protein_coding	YES	CCDS13414.1			724/1734								p.A242T(1)	ovary(4)|kidney(1)	5	c.(724-726)GCC>ACC			Gene3D:3.30.160.20,Pfam_domain:PF00035,PROSITE_profiles:PS50137,hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF59,Low_complexity_(Seg):seg,SMART_domains:SM00358,Superfamily_domains:SSF54768	staufen isoform b				ENSP00000360922		14-Jul									COSM72832	14-Jul	.		ENST00000371856	Transcript				microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	ENSG00000124214	g.chr20:47741010C>T	11370			MODERATE		4.68	high	getma.org/?cm=msa&ty=f&p=STAU1_HUMAN&rb=185&re=249&var=A242T	getma.org/pdb.php?prot=STAU1_HUMAN&from=185&to=249&var=A242T	getma.org/?cm=var&var=hg19,20,47741010,C,T&fts=all	A242T	--	--	1																																		STAU1_uc002xua.2_Missense_Mutation_p.A161T|STAU1_uc002xub.2_Missense_Mutation_p.A167T|STAU1_uc002xuc.2_Missense_Mutation_p.A161T|STAU1_uc002xue.2_Missense_Mutation_p.A161T|STAU1_uc002xuf.2_Missense_Mutation_p.A167T|STAU1_uc002xug.2_Missense_Mutation_p.A242T	1	1		probably_damaging(0.999)	p.A242T	NM_017453	NP_059347		deleterious(0)	1	STAU1_HUMAN	STAU1	HGNC	O95793	STAU1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)		Q59F99_HUMAN,B3KRE0_HUMAN		7	1135	-			UPI000013CB53	242			DRBM 2.		SNV	STAU1,missense_variant,p.Ala167Thr,ENST00000371828,NM_001037328.1,NM_004602.2;STAU1,missense_variant,p.Ala242Thr,ENST00000371856,NM_017453.2;STAU1,missense_variant,p.Ala161Thr,ENST00000340954,;STAU1,missense_variant,p.Ala161Thr,ENST00000360426,NM_017452.2;STAU1,missense_variant,p.Ala167Thr,ENST00000371802,;STAU1,missense_variant,p.Ala161Thr,ENST00000347458,NM_017454.2;STAU1,missense_variant,p.Ala161Thr,ENST00000371792,;STAU1,missense_variant,p.Ala167Thr,ENST00000437404,;	uc002xud.2	c.724G>A	1135/3500	2	2			c.724G>A						20	SNP	c.(724-726)GCC>ACC	36	36		p.A242T(1)	ovary(4)|kidney(1)	5	Broad	staufen isoform b			47741010		0.468	ENSG00000124214	15038	g.chr20:47741010C>T		microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding							590.789795	KEEP	102	105	-1	122	150	102	105	-1	591.954466	122	150	0.44519	1	0	0	0	0	1	0	0	0	--	--		0	T			STAU1_uc002xua.2_Missense_Mutation_p.A161T|STAU1_uc002xub.2_Missense_Mutation_p.A167T|STAU1_uc002xuc.2_Missense_Mutation_p.A161T|STAU1_uc002xue.2_Missense_Mutation_p.A161T|STAU1_uc002xuf.2_Missense_Mutation_p.A167T|STAU1_uc002xug.2_Missense_Mutation_p.A242T	214	GBM-28-2514-TP	p.A242T	C	ACAGCTATGGCGGCATTTTTC	NM_017453	NP_059347	47741010	O95793	STAU1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)		7	1135	-	T	T			Missense_Mutation	242			DRBM 2.			
STAU1	0	broad.mit.edu	GRCh37	20	47734907	47734907	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-28-6450-01	TCGA-28-6450-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371856.2:c.1152delC	p.Phe386LeufsTer23	p.F386Lfs*23	ENST00000371856	NM_017453.2	384	acC/ac	0			1			-	T/X	uc002xud.2	protein_coding	YES	CCDS13414.1			1152/1734									ovary(4)|kidney(1)	5	c.(1150-1152)ACCfs			hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF59,Superfamily_domains:SSF54768	staufen isoform b				ENSP00000360922		14-Oct										14-Oct	.		ENST00000371856	Transcript				microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	ENSG00000124214	g.chr20:47734907delG	11370			HIGH								--	--	1																																		STAU1_uc002xua.2_Frame_Shift_Del_p.T303fs|STAU1_uc002xub.2_Frame_Shift_Del_p.T309fs|STAU1_uc002xuc.2_Frame_Shift_Del_p.T303fs|STAU1_uc002xue.2_Frame_Shift_Del_p.T303fs|STAU1_uc002xuf.2_Frame_Shift_Del_p.T309fs|STAU1_uc002xug.2_Frame_Shift_Del_p.T384fs		1			p.T384fs	NM_017453	NP_059347				STAU1_HUMAN	STAU1	HGNC	O95793	STAU1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)		Q59F99_HUMAN,B3KRE0_HUMAN		10	1563	-			UPI000013CB53	384	QPTKPALKSEEKTPIKKPGDGRKVTFFEPGSGD -> SHQT RTQVRGEDTHKETRGWKKSNLFLNLALGM (in Ref. 2).				deletion	STAU1,frameshift_variant,p.Phe311LeufsTer23,ENST00000371828,NM_001037328.1,NM_004602.2;STAU1,frameshift_variant,p.Phe386LeufsTer23,ENST00000371856,NM_017453.2;STAU1,frameshift_variant,p.Phe305LeufsTer23,ENST00000340954,;STAU1,frameshift_variant,p.Phe305LeufsTer23,ENST00000360426,NM_017452.2;STAU1,frameshift_variant,p.Phe311LeufsTer23,ENST00000371802,;STAU1,frameshift_variant,p.Phe305LeufsTer23,ENST00000347458,NM_017454.2;STAU1,frameshift_variant,p.Phe303LeufsTer23,ENST00000371792,;	uc002xud.2	c.1152delC	1563/3500	5	5			c.1152delC						20	DEL	c.(1150-1152)ACCfs	33	33			ovary(4)|kidney(1)	5	Broad	staufen isoform b			47734907		0.388	ENSG00000124214	15038	g.chr20:47734907delG		microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding																				0.26	1	1	0	1	0	0	0	0	0	--	--		0	-			STAU1_uc002xua.2_Frame_Shift_Del_p.T303fs|STAU1_uc002xub.2_Frame_Shift_Del_p.T309fs|STAU1_uc002xuc.2_Frame_Shift_Del_p.T303fs|STAU1_uc002xue.2_Frame_Shift_Del_p.T303fs|STAU1_uc002xuf.2_Frame_Shift_Del_p.T309fs|STAU1_uc002xug.2_Frame_Shift_Del_p.T384fs	227	GBM-28-6450-TP	p.T384fs	G	GTTCAAAAAAGGTTACTTTTC	NM_017453	NP_059347	47734907	O95793	STAU1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)		10	1563	-	-	-			Frame_Shift_Del	384	QPTKPALKSEEKTPIKKPGDGRKVTFFEPGSGD -> SHQT RTQVRGEDTHKETRGWKKSNLFLNLALGM (in Ref. 2).					
STC1	0	broad.mit.edu	GRCh37	8	23709003	23709003	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0692-01	TCGA-12-0692-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290271.2:c.303C>T	p.Asn101=	p.N101=	ENST00000290271	NM_003155.2	101	aaC/aaT	0			1			A	N	uc003xdw.1	protein_coding	YES	CCDS6043.1			303/744									skin(3)|upper_aerodigestive_tract(1)	4	c.(301-303)AAC>AAT			hmmpanther:PTHR11245:SF1,hmmpanther:PTHR11245,Pfam_domain:PF03298	stanniocalcin 1 precursor				ENSP00000290271		4-Mar									COSM3412924	4-Mar	.		ENST00000290271	Transcript			cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	ENSG00000159167	g.chr8:23709003G>A	11373			LOW								--	--	1																																			1	1			p.N101N	NM_003155	NP_003146			1	STC1_HUMAN	STC1	HGNC	P52823	STC1_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	Q71UE5_HUMAN,B4DN22_HUMAN		3	587	-		Prostate(55;0.055)|Breast(100;0.116)	UPI00001360B4	101					SNV	STC1,synonymous_variant,p.=,ENST00000290271,NM_003155.2;STC1,synonymous_variant,p.=,ENST00000524323,;	uc003xdw.1	c.303C>T	587/3883	1	1			c.303C>T						8	SNP	c.(301-303)AAC>AAT	51	51			skin(3)|upper_aerodigestive_tract(1)	4	Broad	stanniocalcin 1 precursor			23709003		0.517	ENSG00000159167	15041	g.chr8:23709003G>A	cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity							114.003008	KEEP	23	18	-1	36	23	23	18	-1	114.532019	36	23	0.419355	1	0	0	0	0	0	0	1	0	--	--		0	A				122	GBM-12-0692-TP	p.N101N	G	AGGTGACCCCGTTGGCGATGC	NM_003155	NP_003146	23709003	P52823	STC1_HUMAN	0		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	3	587	-	A	A		Prostate(55;0.055)|Breast(100;0.116)	Silent	101						
STC1	0	broad.mit.edu	GRCh37	8	23702306	23702306	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01	TCGA-19-5955-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290271.2:c.721C>T	p.Arg241Cys	p.R241C	ENST00000290271	NM_003155.2	241	Cgc/Tgc	0			1			A	R/C	uc003xdw.1	protein_coding	YES	CCDS6043.1			721/744									skin(3)|upper_aerodigestive_tract(1)	4	c.(721-723)CGC>TGC			hmmpanther:PTHR11245:SF1,hmmpanther:PTHR11245	stanniocalcin 1 precursor				ENSP00000290271		4-Apr	8.24E-06					1.50E-05			rs778531998,COSM3412923	4-Apr	.		ENST00000290271	Transcript			cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	ENSG00000159167	g.chr8:23702306G>A	11373			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=STC1_HUMAN&rb=210&re=247&var=R241C	NA	getma.org/?cm=var&var=hg19,8,23702306,G,A&fts=all	R241C	--	--	1																																			0,1	1		probably_damaging(0.99)	p.R241C	NM_003155	NP_003146		deleterious_low_confidence(0)	0,1	STC1_HUMAN	STC1	HGNC	P52823	STC1_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	Q71UE5_HUMAN,B4DN22_HUMAN		4	1005	-		Prostate(55;0.055)|Breast(100;0.116)	UPI00001360B4	241					SNV	STC1,missense_variant,p.Arg241Cys,ENST00000290271,NM_003155.2;STC1,missense_variant,p.Arg172Cys,ENST00000524323,;	uc003xdw.1	c.721C>T	1005/3883	2	2			c.721C>T						8	SNP	c.(721-723)CGC>TGC	24	24			skin(3)|upper_aerodigestive_tract(1)	4	Broad	stanniocalcin 1 precursor			23702306		0.507	ENSG00000159167	15041	g.chr8:23702306G>A	cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity							14.945998	KEEP	3	6	-1	29	29	3	6	-1	22.214416	29	29	0.147541	1	0	0	0	0	1	0	0	0	--	--		0	A				175	GBM-19-5955-TP	p.R241C	G	TGGGATGTGCGTTTGATGTGG	NM_003155	NP_003146	23702306	P52823	STC1_HUMAN	0		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	4	1005	-	A	A		Prostate(55;0.055)|Breast(100;0.116)	Missense_Mutation	241						
STEAP1	0	broad.mit.edu	GRCh37	7	89794038	89794038	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-2624-01	TCGA-19-2624-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297205.2:c.1010C>A	p.Ser337Tyr	p.S337Y	ENST00000297205	NM_012449.2	337	tCc/tAc	0			1			A	S/Y	uc003ujx.2	protein_coding	YES	CCDS5614.1			1010/1020										0	c.(1009-1011)TCC>TAC			hmmpanther:PTHR14239,hmmpanther:PTHR14239:SF3	six transmembrane epithelial antigen of the				ENSP00000297205		5-May									COSM3412461	5-May	.		ENST00000297205	Transcript			electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	ENSG00000164647	g.chr7:89794038C>A	11378			MODERATE		2.14	medium	getma.org/?cm=msa&ty=f&p=STEA1_HUMAN&rb=265&re=339&var=S337Y	NA	getma.org/?cm=var&var=hg19,7,89794038,C,A&fts=all	S337Y	--	--	1																																		STEAP2_uc003ujy.2_5'Flank	1	1		benign(0.003)	p.S337Y	NM_012449	NP_036581		deleterious_low_confidence(0.03)	1	STEA1_HUMAN	STEAP1	HGNC	Q9UHE8	STEA1_HUMAN					5	1210	+	all_hematologic(106;0.112)		UPI000003C398	337					SNV	STEAP1,missense_variant,p.Ser337Tyr,ENST00000297205,NM_012449.2;STEAP2,upstream_gene_variant,,ENST00000428074,;STEAP2-AS1,intron_variant,,ENST00000478318,;STEAP1,3_prime_UTR_variant,,ENST00000412573,;STEAP1,downstream_gene_variant,,ENST00000475789,;	uc003ujx.2	c.1010C>A	1210/1313	2	2			c.1010C>A						7	SNP	c.(1009-1011)TCC>TAC	47	47				0	Broad	six transmembrane epithelial antigen of the			89794038		0.299	ENSG00000164647	15043	g.chr7:89794038C>A	electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity							27.438533	KEEP	10	4	0.285714286	27	27	10	4	0.285714286	32.879617	27	27	0.2	1	0	0	0	0	1	0	0	0	--	--		0	A			STEAP2_uc003ujy.2_5'Flank	164	GBM-19-2624-TP	p.S337Y	C	GAGATATGTTCCCAGTTGTAG	NM_012449	NP_036581	89794038	Q9UHE8	STEA1_HUMAN	0			5	1210	+	A	A	all_hematologic(106;0.112)		Missense_Mutation	337						
STEAP1	0	broad.mit.edu	GRCh37	7	89791325	89791325	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-1970-01	TCGA-32-1970-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297205.2:c.695T>C	p.Leu232Pro	p.L232P	ENST00000297205	NM_012449.2	232	cTg/cCg	0			1			C	L/P	uc003ujx.2	protein_coding	YES	CCDS5614.1			695/1020										0	c.(694-696)CTG>CCG			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR14239,hmmpanther:PTHR14239:SF3,Pfam_domain:PF01794	six transmembrane epithelial antigen of the				ENSP00000297205		5-Apr									COSM3412460	5-Apr	.		ENST00000297205	Transcript			electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	ENSG00000164647	g.chr7:89791325T>C	11378			MODERATE		2.38	medium	getma.org/?cm=msa&ty=f&p=STEA1_HUMAN&rb=118&re=264&var=L232P	NA	getma.org/?cm=var&var=hg19,7,89791325,T,C&fts=all	L232P	--	--	1																																		STEAP1_uc010lem.2_Missense_Mutation_p.L232P	1	1		probably_damaging(0.984)	p.L232P	NM_012449	NP_036581		deleterious(0)	1	STEA1_HUMAN	STEAP1	HGNC	Q9UHE8	STEA1_HUMAN					4	895	+	all_hematologic(106;0.112)		UPI000003C398	232			Ferric oxidoreductase.|Helical; (Potential).		SNV	STEAP1,missense_variant,p.Leu232Pro,ENST00000297205,NM_012449.2;STEAP2-AS1,intron_variant,,ENST00000478318,;STEAP1,missense_variant,p.Leu51Pro,ENST00000412573,;STEAP1,non_coding_transcript_exon_variant,,ENST00000475789,;	uc003ujx.2	c.695T>C	895/1313	3	3			c.695T>C						7	SNP	c.(694-696)CTG>CCG	14	14				0	Broad	six transmembrane epithelial antigen of the			89791325		0.378	ENSG00000164647	15043	g.chr7:89791325T>C	electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity							198.029435	KEEP	50	53	-1	182	183	50	53	-1	222.366794	182	183	0.229282	1	0	0	0	0	1	0	0	0	--	--		0	C			STEAP1_uc010lem.2_Missense_Mutation_p.L232P	228	GBM-32-1970-TP	p.L232P	T	ATACTGGCTCTGTTGGCTGTG	NM_012449	NP_036581	89791325	Q9UHE8	STEA1_HUMAN	0			4	895	+	C	C	all_hematologic(106;0.112)		Missense_Mutation	232			Ferric oxidoreductase.|Helical; (Potential).			
STEAP2	261729	broad.mit.edu	GRCh37	7	89856794	89856794	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5415-01	TCGA-06-5415-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000287908.3:c.1002C>T	p.Leu334=	p.L334=	ENST00000287908	NM_152999.3	334	ctC/ctT	0			1			T	L	uc003ujz.2	protein_coding	YES	CCDS5615.1			1002/1473									ovary(2)	2	c.(1000-1002)CTC>CTT			hmmpanther:PTHR14239,hmmpanther:PTHR14239:SF6,Pfam_domain:PF01794	six transmembrane epithelial antigen of the				ENSP00000287908		5-Mar									COSM3412462,COSM3412463	5-Mar	.		ENST00000287908	Transcript			electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	ENSG00000157214	g.chr7:89856794C>T	17885			LOW								--	--	1																																		STEAP2_uc003ujy.2_Silent_p.L376L|STEAP2_uc010len.2_Silent_p.L334L|STEAP2_uc003uka.2_Silent_p.L334L|STEAP2_uc003ukb.2_Silent_p.L334L|STEAP2_uc003ukc.2_Silent_p.L334L|STEAP2_uc003ukd.2_Silent_p.L334L	1,1	1			p.L334L	NM_152999	NP_694544			1,1	STEA2_HUMAN	STEAP2	HGNC	Q8NFT2	STEA2_HUMAN			C9JLP2_HUMAN,C9JHX5_HUMAN		3	1395	+	all_hematologic(106;0.112)		UPI000013DEE0	334			Ferric oxidoreductase.		SNV	STEAP2,synonymous_variant,p.=,ENST00000287908,NM_152999.3,NM_001244944.1;STEAP2,synonymous_variant,p.=,ENST00000394622,NM_001040665.1;STEAP2,synonymous_variant,p.=,ENST00000394626,NM_001244945.1;STEAP2,synonymous_variant,p.=,ENST00000394629,NM_001040666.1;STEAP2,synonymous_variant,p.=,ENST00000394632,NM_001244946.1;STEAP2,synonymous_variant,p.=,ENST00000394621,;STEAP2,synonymous_variant,p.=,ENST00000402625,;STEAP2,downstream_gene_variant,,ENST00000428074,;STEAP2,downstream_gene_variant,,ENST00000426158,;STEAP2,downstream_gene_variant,,ENST00000482369,;	uc003ujz.2	c.1002C>T	1395/6873	2	2			c.1002C>T						7	SNP	c.(1000-1002)CTC>CTT	40	40			ovary(2)	2	Broad	six transmembrane epithelial antigen of the			89856794		0.338	ENSG00000157214	15044	g.chr7:89856794C>T	electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity							-1.024429	KEEP	6	7	-1	72	88	6	7	-1	24.923898	72	88	0.082192	1	0	0	0	0	0	0	1	0	--	--		0	T			STEAP2_uc003ujy.2_Silent_p.L376L|STEAP2_uc010len.2_Silent_p.L334L|STEAP2_uc003uka.2_Silent_p.L334L|STEAP2_uc003ukb.2_Silent_p.L334L|STEAP2_uc003ukc.2_Silent_p.L334L|STEAP2_uc003ukd.2_Silent_p.L334L	98	GBM-06-5415-TP	p.L334L	C	ATTTGTTTCTCAACATGGCTT	NM_152999	NP_694544	89856794	Q8NFT2	STEA2_HUMAN	0			3	1395	+	T	T	all_hematologic(106;0.112)		Silent	334			Ferric oxidoreductase.			
STEAP4	0	broad.mit.edu	GRCh37	7	87912074	87912074	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs79363691		TCGA-06-6391-01	TCGA-06-6391-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380079.4:c.866G>T	p.Cys289Phe	p.C289F	ENST00000380079	NM_024636.3	289	tGc/tTc	0			1			A	C/F	uc003ujs.2	protein_coding	YES	CCDS43611.1			866/1380										0	c.(865-867)TGC>TTC			hmmpanther:PTHR14239,hmmpanther:PTHR14239:SF5,Pfam_domain:PF01794	tumor necrosis factor, alpha-induced protein 9				ENSP00000369419		5-Mar									rs79363691	5-Mar	.		ENST00000380079	Transcript			fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	ENSG00000127954	g.chr7:87912074C>A	21923			MODERATE		2.77	medium	getma.org/?cm=msa&ty=f&p=STEA4_HUMAN&rb=247&re=395&var=C289F	NA	getma.org/?cm=var&var=hg19,7,87912074,C,A&fts=all	C289F	--	--	1																																		STEAP4_uc010lek.2_Intron|STEAP4_uc003ujt.2_Missense_Mutation_p.C289F		1		probably_damaging(0.996)	p.C289F	NM_024636	NP_078912		deleterious(0.02)		STEA4_HUMAN	STEAP4	HGNC	Q687X5	STEA4_HUMAN					3	971	-	Esophageal squamous(14;0.00802)		UPI000003C39A	289			Ferric oxidoreductase.		SNV	STEAP4,missense_variant,p.Cys289Phe,ENST00000380079,NM_024636.3,NM_001205315.1;STEAP4,missense_variant,p.Cys289Phe,ENST00000414498,;STEAP4,intron_variant,,ENST00000301959,NM_001205316.1;AC003991.3,non_coding_transcript_exon_variant,,ENST00000600908,;AC003991.3,intron_variant,,ENST00000595121,;AC003991.3,intron_variant,,ENST00000447758,;AC003991.3,intron_variant,,ENST00000434733,;	uc003ujs.2	c.866G>T	968/4451	1	1			c.866G>T						7	SNP	c.(865-867)TGC>TTC	57	57				0	Broad	tumor necrosis factor, alpha-induced protein 9			87912074		0.478	ENSG00000127954	15046	g.chr7:87912074C>A	fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity							21.588817	KEEP	5	7	0.583333333	26	35	5	7	0.583333333	27.883905	26	35	0.174603	1	0	0	0	0	1	0	0	0	--	--		0	A			STEAP4_uc010lek.2_Intron|STEAP4_uc003ujt.2_Missense_Mutation_p.C289F	107	GBM-06-6391-TP	p.C289F	C	CTGCTTTCGGCAAAGCATCCA	NM_024636	NP_078912	87912074	Q687X5	STEA4_HUMAN	0			3	971	-	A	A	Esophageal squamous(14;0.00802)		Missense_Mutation	289			Ferric oxidoreductase.			
STEAP4	0	broad.mit.edu	GRCh37	7	87913202	87913202	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380079.4:c.383C>T	p.Ala128Val	p.A128V	ENST00000380079	NM_024636.3	128	gCc/gTc	0			1			A	A/V	uc003ujs.2	protein_coding	YES	CCDS43611.1			383/1380										0	c.(382-384)GCC>GTC			hmmpanther:PTHR14239,hmmpanther:PTHR14239:SF5,Gene3D:3.40.50.720,Superfamily_domains:SSF51735	tumor necrosis factor, alpha-induced protein 9				ENSP00000369419		5-Feb									COSM3412455	5-Feb	.		ENST00000380079	Transcript			fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	ENSG00000127954	g.chr7:87913202G>A	21923			MODERATE		2.285	medium	getma.org/?cm=msa&ty=f&p=STEA4_HUMAN&rb=108&re=246&var=A128V	getma.org/pdb.php?prot=STEA4_HUMAN&from=108&to=246&var=A128V	getma.org/?cm=var&var=hg19,7,87913202,G,A&fts=all	A128V	--	--	1																																		STEAP4_uc010lek.2_Missense_Mutation_p.A128V|STEAP4_uc003ujt.2_Missense_Mutation_p.A128V	1	1		benign(0.049)	p.A128V	NM_024636	NP_078912		tolerated(0.11)	1	STEA4_HUMAN	STEAP4	HGNC	Q687X5	STEA4_HUMAN					2	488	-	Esophageal squamous(14;0.00802)		UPI000003C39A	128					SNV	STEAP4,missense_variant,p.Ala128Val,ENST00000380079,NM_024636.3,NM_001205315.1;STEAP4,missense_variant,p.Ala128Val,ENST00000414498,;STEAP4,missense_variant,p.Ala128Val,ENST00000301959,NM_001205316.1;AC003991.3,non_coding_transcript_exon_variant,,ENST00000600908,;AC003991.3,non_coding_transcript_exon_variant,,ENST00000595121,;AC003991.3,non_coding_transcript_exon_variant,,ENST00000434733,;AC003991.3,intron_variant,,ENST00000447758,;	uc003ujs.2	c.383C>T	485/4451	2	2			c.383C>T						7	SNP	c.(382-384)GCC>GTC	36	36				0	Broad	tumor necrosis factor, alpha-induced protein 9			87913202		0.428	ENSG00000127954	15046	g.chr7:87913202G>A	fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity							-114.894175	KEEP	3	9	-1	264	295	3	9	-1	17.76886	264	295	0.021236	1	0	0	0	0	1	0	0	0	--	--		0	A			STEAP4_uc010lek.2_Missense_Mutation_p.A128V|STEAP4_uc003ujt.2_Missense_Mutation_p.A128V	197	GBM-27-1838-TP	p.A128V	G	TACCACGTGGGCTCCTGGCAC	NM_024636	NP_078912	87913202	Q687X5	STEA4_HUMAN	0			2	488	-	A	A	Esophageal squamous(14;0.00802)		Missense_Mutation	128						
STIM1	6786		GRCh37	11	4045179	4045179	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000300737.4:c.347G>A	p.Ser116Asn	p.S116N	ENST00000300737	NM_003156.3	116	aGc/aAc	0																																																																																																																																																																																																																																												
STIP1	10963		GRCh37	11	63961718	63961718	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000305218.4:c.277C>T	p.Arg93Ter	p.R93*	ENST00000305218	NM_006819.2	93	Cga/Tga	0																																																																																																																																																																																																																																												
STK10	6793	broad.mit.edu	GRCh37	5	171479966	171479966	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0648-01	TCGA-06-0648-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000176763.5:c.2733G>A	p.Lys911=	p.K911=	ENST00000176763	NM_005990.3	911	aaG/aaA	0			1			T	K	uc003mbo.1	protein_coding	YES	CCDS34290.1			2733/2907									ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8	c.(2731-2733)AAG>AAA			hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF195	serine/threonine kinase 10				ENSP00000176763		18/19									COSM2151363	18/19	.		ENST00000176763	Transcript	1				ATP binding|protein serine/threonine kinase activity	ENSG00000072786	g.chr5:171479966C>T	11388			LOW								--	--	1																																			1	1			p.K911K	NM_005990	NP_005981			1	STK10_HUMAN	STK10	HGNC	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)				18	3033	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	UPI0000136104	911			Potential.		SNV	STK10,synonymous_variant,p.=,ENST00000176763,NM_005990.3;STK10,synonymous_variant,p.=,ENST00000520476,;STK10,downstream_gene_variant,,ENST00000523603,;STK10,non_coding_transcript_exon_variant,,ENST00000517360,;STK10,downstream_gene_variant,,ENST00000523615,;STK10,downstream_gene_variant,,ENST00000519269,;	uc003mbo.1	c.2733G>A	3077/6060	2	2			c.2733G>A						5	SNP	c.(2731-2733)AAG>AAA	18	18			ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8	Broad	serine/threonine kinase 10			171479966		0.567	ENSG00000072786	15052	g.chr5:171479966C>T			ATP binding|protein serine/threonine kinase activity			570			570	130.268347	KEEP	21	32	-1	40	59	21	32	-1	132.282002	40	59	0.357143	1	0	0	0	0	0	0	1	0	--	--		0	T				61	GBM-06-0648-TP	p.K911K	C	CCCGCCATTCCTTCAGGTTCT	NM_005990	NP_005981	171479966	O94804	STK10_HUMAN	0	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		18	3033	-	T	T	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Silent	911			Potential.			
STK10	0	broad.mit.edu	GRCh37	5	171510086	171510086	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4934-01	TCGA-76-4934-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000176763.5:c.1688G>A	p.Arg563His	p.R563H	ENST00000176763	NM_005990.3	563	cGc/cAc	0		T:0.0008	1	T:0		T	R/H	uc003mbo.1	protein_coding	YES	CCDS34290.1			1688/2907									ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8	c.(1687-1689)CGC>CAC			hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF195,Low_complexity_(Seg):seg	serine/threonine kinase 10		T:0		ENSP00000176763	T:0	19-Nov	8.24E-06	9.66E-05							rs550965424,COSM3410144	19-Nov	.		ENST00000176763	Transcript	1	T:0.0002			ATP binding|protein serine/threonine kinase activity	ENSG00000072786	g.chr5:171510086C>T	11388			MODERATE		2.42	medium	getma.org/?cm=msa&ty=f&p=STK10_HUMAN&rb=495&re=585&var=R563H	NA	getma.org/?cm=var&var=hg19,5,171510086,C,T&fts=all	R563H	--	--	1																																			0,1	1		possibly_damaging(0.463)	p.R563H	NM_005990	NP_005981	T:0	deleterious(0)	0,1	STK10_HUMAN	STK10	HGNC	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)				11	1988	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	UPI0000136104	563					SNV	STK10,missense_variant,p.Arg563His,ENST00000176763,NM_005990.3;AC113342.1,upstream_gene_variant,,ENST00000579783,;STK10,upstream_gene_variant,,ENST00000522879,;	uc003mbo.1	c.1688G>A	2032/6060	1	1			c.1688G>A						5	SNP	c.(1687-1689)CGC>CAC	6	6			ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8	Broad	serine/threonine kinase 10			171510086		0.468	ENSG00000072786	15052	g.chr5:171510086C>T			ATP binding|protein serine/threonine kinase activity			570			570	291.523947	KEEP	47	57	-1	22	16	47	57	-1	297.060122	22	16	0.723577	1	0	0	0	0	1	0	0	0	--	--		0	T				272	GBM-76-4934-TP	p.R563H	C	GAGTTCCTGGCGCCTGAAAGG	NM_005990	NP_005981	171510086	O94804	STK10_HUMAN	0	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		11	1988	-	T	T	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Missense_Mutation	563						
STK10	6793		GRCh37	5	171488225	171488225	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000176763.5:c.2130G>A	p.Met710Ile	p.M710I	ENST00000176763	NM_005990.3	710	atG/atA	0																																																																																																																																																																																																																																												
STK11IP	114790		GRCh37	2	220476376	220476376	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000295641.10:c.2188G>A	p.Ala730Thr	p.A730T	ENST00000295641	NM_052902.2	730	Gct/Act	0																																																																																																																																																																																																																																												
STK17A	0	broad.mit.edu	GRCh37	7	43622866	43622866	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319357.5:c.24C>T	p.Gly8=	p.G8=	ENST00000319357	NM_004760.2	8	ggC/ggT	0			1			T	G	uc003tih.2	protein_coding	YES	CCDS5470.1			24/1245									skin(2)	2	c.(22-24)GGC>GGT			hmmpanther:PTHR24342,hmmpanther:PTHR24342:SF6,Low_complexity_(Seg):seg	serine/threonine kinase 17a				ENSP00000319192		7-Jan									COSM3412062	7-Jan	.		ENST00000319357	Transcript			apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	ENSG00000164543	g.chr7:43622866C>T	11395			LOW								--	--	1																																			1	1			p.G8G	NM_004760	NP_004751			1	ST17A_HUMAN	STK17A	HGNC	Q9UEE5	ST17A_HUMAN			Q86UI9_HUMAN,Q75MK4_HUMAN		1	175	+			UPI00001405A1	8					SNV	STK17A,synonymous_variant,p.=,ENST00000319357,NM_004760.2;AC011738.1,downstream_gene_variant,,ENST00000516499,;STK17A,intron_variant,,ENST00000462448,;	uc003tih.2	c.24C>T	203/3368	1	1			c.24C>T						7	SNP	c.(22-24)GGC>GGT	5	5			skin(2)	2	Broad	serine/threonine kinase 17a			43622866		0.567	ENSG00000164543	15056	g.chr7:43622866C>T	apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			120			120	22.193886	KEEP	7	2	-1	12	8	7	2	-1	22.553845	12	8	0.363636	1	0	0	0	0	0	0	1	0	--	--		0	T				129	GBM-12-5295-TP	p.G8G	C	AGAAGCCAGGCAGCGGCGGCT	NM_004760	NP_004751	43622866	Q9UEE5	ST17A_HUMAN	0			1	175	+	T	T			Silent	8						
STK19	0	broad.mit.edu	GRCh37	6	31939829	31939830	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-12-0821-01	TCGA-12-0821-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375333.2:c.59dupA	p.Asn20LysfsTer16	p.N20Kfs*16	ENST00000375333	NM_032454.1	19	gca/gcAa	0			1			A	A/AX	uc003nyv.2	protein_coding	YES	CCDS4733.1			56-57/1107									skin(4)	4	c.(55-57)GCAfs				serine/threonine kinase 19 isoform 2				ENSP00000364482		8-Jan									rs763730493,COSM1724837	8-Jan	.		ENST00000375333	Transcript				nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	ENSG00000204344	g.chr6:31939829_31939830insA	11398	3		HIGH								--	--	1																																		DOM3Z_uc003nyo.1_5'UTR|DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc003nyr.1_5'UTR|DOM3Z_uc003nys.1_5'Flank|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.2_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.1_Frame_Shift_Ins_p.A19fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.2_Frame_Shift_Ins_p.A19fs|STK19_uc010jtn.1_5'Flank	0,1	1			p.A19fs	NM_032454	NP_115830			0,1	STK19_HUMAN	STK19	HGNC	P49842	STK19_HUMAN			C9J6S8_HUMAN		1	184_185	+			UPI0000136063	19					insertion	STK19,frameshift_variant,p.Asn20LysfsTer16,ENST00000375331,NM_004197.1;STK19,frameshift_variant,p.Asn20LysfsTer16,ENST00000375333,NM_032454.1;STK19,frameshift_variant,p.Asn20LysfsTer16,ENST00000460018,;DXO,5_prime_UTR_variant,,ENST00000375349,;DXO,5_prime_UTR_variant,,ENST00000337523,NM_005510.3;SKIV2L,downstream_gene_variant,,ENST00000375394,NM_006929.4;SKIV2L,downstream_gene_variant,,ENST00000544581,;DXO,upstream_gene_variant,,ENST00000375356,;SKIV2L,downstream_gene_variant,,ENST00000491994,;DXO,upstream_gene_variant,,ENST00000495340,;DXO,non_coding_transcript_exon_variant,,ENST00000478221,;DXO,non_coding_transcript_exon_variant,,ENST00000474587,;DXO,upstream_gene_variant,,ENST00000487914,;SKIV2L,downstream_gene_variant,,ENST00000471818,;SKIV2L,downstream_gene_variant,,ENST00000461915,;STK19,upstream_gene_variant,,ENST00000463823,;STK19,upstream_gene_variant,,ENST00000466336,;SKIV2L,downstream_gene_variant,,ENST00000470453,;DXO,5_prime_UTR_variant,,ENST00000480240,;DXO,non_coding_transcript_exon_variant,,ENST00000477826,;DXO,non_coding_transcript_exon_variant,,ENST00000473976,;STK19,non_coding_transcript_exon_variant,,ENST00000466132,;DXO,non_coding_transcript_exon_variant,,ENST00000485557,;DXO,non_coding_transcript_exon_variant,,ENST00000492946,;STK19,non_coding_transcript_exon_variant,,ENST00000492583,;STK19,non_coding_transcript_exon_variant,,ENST00000479644,;SKIV2L,downstream_gene_variant,,ENST00000465703,;SKIV2L,downstream_gene_variant,,ENST00000474839,;STK19,upstream_gene_variant,,ENST00000473983,;DXO,upstream_gene_variant,,ENST00000498357,;DXO,upstream_gene_variant,,ENST00000491327,;SKIV2L,downstream_gene_variant,,ENST00000483553,;STK19,upstream_gene_variant,,ENST00000491861,;STK19,upstream_gene_variant,,ENST00000519179,;STK19,upstream_gene_variant,,ENST00000483801,;STK19,upstream_gene_variant,,ENST00000469907,;SKIV2L,downstream_gene_variant,,ENST00000484835,;SKIV2L,downstream_gene_variant,,ENST00000494058,;STK19,upstream_gene_variant,,ENST00000478486,;DXO,upstream_gene_variant,,ENST00000460058,;SKIV2L,downstream_gene_variant,,ENST00000485349,;STK19,upstream_gene_variant,,ENST00000484540,;STK19,upstream_gene_variant,,ENST00000471028,;	uc003nyv.2	c.56_57insA	109-110/1557	5	5			c.56_57insA						6	INS	c.(55-57)GCAfs	64	64			skin(4)	4	Broad	serine/threonine kinase 19 isoform 2			31939830		0.634	ENSG00000204344	15058	g.chr6:31939829_31939830insA		nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			192			192														0.02	1	0	0	1	1	0	0	0	0	--	--		0	A			DOM3Z_uc003nyo.1_5'UTR|DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc003nyr.1_5'UTR|DOM3Z_uc003nys.1_5'Flank|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.2_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.1_Frame_Shift_Ins_p.A19fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.2_Frame_Shift_Ins_p.A19fs|STK19_uc010jtn.1_5'Flank	123	GBM-12-0821-TP	p.A19fs	-	CAGTGGCGGGCAAACCCCTCCC	NM_032454	NP_115830	31939829	P49842	STK19_HUMAN	0			1	184_185	+	A	A			Frame_Shift_Ins	19						
STK24	8428	broad.mit.edu	GRCh37	13	99127230	99127230	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01	TCGA-06-2570-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376547.3:c.478G>A	p.Ala160Thr	p.A160T	ENST00000376547	NM_003576.3	160	Gcc/Acc	0			1			T	A/T	uc001vnm.1	protein_coding	YES	CCDS9488.1			478/1332									ovary(1)|lung(1)	2	c.(478-480)GCC>ACC			Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF208,SMART_domains:SM00220,Superfamily_domains:SSF56112	serine/threonine kinase 24 isoform a				ENSP00000365730		11-May									COSM3399480	11-May	.		ENST00000376547	Transcript			cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	ENSG00000102572	g.chr13:99127230C>T	11403			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=STK24_HUMAN&rb=36&re=286&var=A160T	getma.org/pdb.php?prot=STK24_HUMAN&from=36&to=286&var=A160T	getma.org/?cm=var&var=hg19,13,99127230,C,T&fts=all	A160T	--	--	1																																		STK24_uc001vnn.1_Missense_Mutation_p.A148T|STK24_uc010tim.1_Missense_Mutation_p.A129T	1	1		probably_damaging(0.96)	p.A160T	NM_003576	NP_003567		deleterious(0)	1	STK24_HUMAN	STK24	HGNC	Q9Y6E0	STK24_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		Q5JV99_HUMAN		5	713	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		UPI000013606E	160			Protein kinase.		SNV	STK24,missense_variant,p.Ala148Thr,ENST00000397517,NM_001032296.2;STK24,missense_variant,p.Ala160Thr,ENST00000376547,NM_003576.3;STK24,missense_variant,p.Ala66Thr,ENST00000444574,;STK24,missense_variant,p.Ala129Thr,ENST00000539966,NM_001286649.1;STK24,splice_region_variant,,ENST00000491878,;	uc001vnm.1	c.478G>A	624/2492	1	1			c.478G>A						13	SNP	c.(478-480)GCC>ACC	1	1			ovary(1)|lung(1)	2	Broad	serine/threonine kinase 24 isoform a			99127230		0.627	ENSG00000102572	15059	g.chr13:99127230C>T	cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity							-1.872746	KEEP	1	5	-1	44	36	1	5	-1	9.779201	44	36	0.078125	1	0	0	0	0	1	0	0	0	--	--		0	T			STK24_uc001vnn.1_Missense_Mutation_p.A148T|STK24_uc010tim.1_Missense_Mutation_p.A129T	91	GBM-06-2570-TP	p.A160T	C	AGGACGTTGGCCGCTGCAAAA	NM_003576	NP_003567	99127230	Q9Y6E0	STK24_HUMAN	0	BRCA - Breast invasive adenocarcinoma(86;0.233)		5	713	-	T	T	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		Missense_Mutation	160			Protein kinase.			
STK31	56164	broad.mit.edu	GRCh37	7	23830449	23830449	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0648-01	TCGA-06-0648-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355870.3:c.2644C>T	p.Arg882Ter	p.R882*	ENST00000355870	NM_031414.4	882	Cga/Tga	0			1			T	R/*	uc003sws.3	protein_coding	YES	CCDS5386.1			2644/3060									skin(3)|lung(2)|ovary(2)|stomach(2)	9	c.(2644-2646)CGA>TGA			Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR12302,hmmpanther:PTHR12302:SF0,SMART_domains:SM00220,Superfamily_domains:SSF56112	serine/threonine kinase 31 isoform a				ENSP00000348132		22/24									COSM3411945	22/24	.		ENST00000355870	Transcript					ATP binding|nucleic acid binding|protein serine/threonine kinase activity	ENSG00000196335	g.chr7:23830449C>T	11407			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,23830449,C,T&fts=all	R882*	--	--	1																																		STK31_uc003swt.3_Nonsense_Mutation_p.R859*|STK31_uc011jze.1_Nonsense_Mutation_p.R882*|STK31_uc010kuq.2_Nonsense_Mutation_p.R859*|STK31_uc003swv.1_Nonsense_Mutation_p.R48*	1	1			p.R882*	NM_031414	NP_113602			1	STK31_HUMAN	STK31	HGNC	Q9BXU1	STK31_HUMAN			Q75MZ9_HUMAN,F8W6E7_HUMAN,E9PRQ0_HUMAN,C9JQW5_HUMAN,B3KY91_HUMAN		22	2711	+			UPI0000167B73	882			Protein kinase.		SNV	STK31,stop_gained,p.Arg859Ter,ENST00000354639,NM_032944.3,NM_001260504.1;STK31,stop_gained,p.Arg859Ter,ENST00000428484,;STK31,stop_gained,p.Arg882Ter,ENST00000355870,NM_031414.4;STK31,stop_gained,p.Arg882Ter,ENST00000433467,NM_001260505.1;STK31,non_coding_transcript_exon_variant,,ENST00000405627,;	uc003sws.3	c.2644C>T	2763/3326	5	2			c.2644C>T						7	SNP	c.(2644-2646)CGA>TGA	44	44			skin(3)|lung(2)|ovary(2)|stomach(2)	9	Broad	serine/threonine kinase 31 isoform a			23830449		0.378	ENSG00000196335	15062	g.chr7:23830449C>T			ATP binding|nucleic acid binding|protein serine/threonine kinase activity		p.R882G(OE33-Tumor)	598		p.R882G(OE33-Tumor)	598	-23.851538	KEEP	4	5	-1	109	89	4	5	-1	15.185536	109	89	0.045198	1	0	0	0	0	0	1	0	0	--	--		0	T			STK31_uc003swt.3_Nonsense_Mutation_p.R859*|STK31_uc011jze.1_Nonsense_Mutation_p.R882*|STK31_uc010kuq.2_Nonsense_Mutation_p.R859*|STK31_uc003swv.1_Nonsense_Mutation_p.R48*	61	GBM-06-0648-TP	p.R882*	C	GCAGAGTCAGCGAGCCTCGGT	NM_031414	NP_113602	23830449	Q9BXU1	STK31_HUMAN	0			22	2711	+	T	T			Nonsense_Mutation	882			Protein kinase.			
STK32A	202374		GRCh37	5	146750222	146750222	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000397936.3:c.666G>A	p.Pro222=	p.P222=	ENST00000397936	NM_001112724.1	222	ccG/ccA	0																																																																																																																																																																																																																																												
STK32B	0	broad.mit.edu	GRCh37	4	5461833	5461833	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-3650-01	TCGA-12-3650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282908.5:c.787C>T	p.Leu263=	p.L263=	ENST00000282908	NM_018401.1	263	Ctg/Ttg	0			1			T	L	uc003gih.1	protein_coding	YES	CCDS3380.1			787/1245									breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5	c.(787-789)CTG>TTG			PROSITE_profiles:PS50011,hmmpanther:PTHR24356:SF137,hmmpanther:PTHR24356,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112	serine/threonine kinase 32B				ENSP00000282908		12-Sep									COSM3409355	12-Sep	.		ENST00000282908	Transcript					ATP binding|metal ion binding|protein serine/threonine kinase activity	ENSG00000152953	g.chr4:5461833C>T	14217			LOW								--	--	1																																OREG0016061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	STK32B_uc010ida.1_Silent_p.L216L	1	1			p.L263L	NM_018401	NP_060871			1	ST32B_HUMAN	STK32B	HGNC	Q9NY57	ST32B_HUMAN			Q69YP0_HUMAN		9	851	+			UPI0000035B46	263			Protein kinase.		SNV	STK32B,synonymous_variant,p.=,ENST00000282908,NM_018401.1;STK32B,synonymous_variant,p.=,ENST00000512636,;STK32B,synonymous_variant,p.=,ENST00000510398,;RN7SKP275,upstream_gene_variant,,ENST00000364626,;STK32B,non_coding_transcript_exon_variant,,ENST00000508728,;STK32B,non_coding_transcript_exon_variant,,ENST00000505508,;STK32B,3_prime_UTR_variant,,ENST00000512018,;	uc003gih.1	c.787C>T	1209/3582	2	2			c.787C>T						4	SNP	c.(787-789)CTG>TTG	28	28			breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5	Broad	serine/threonine kinase 32B			5461833		0.552	ENSG00000152953	15064	g.chr4:5461833C>T			ATP binding|metal ion binding|protein serine/threonine kinase activity			175			175	119.85019	KEEP	28	13	-1	37	30	28	13	-1	121.140149	37	30	0.377551	1	0	0	0	0	0	0	1	0	--	--		0	T	OREG0016061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	STK32B_uc010ida.1_Silent_p.L216L	126	GBM-12-3650-TP	p.L263L	C	ACTGCAGCTCCTGACCAAGGA	NM_018401	NP_060871	5461833	Q9NY57	ST32B_HUMAN	0			9	851	+	T	T			Silent	263			Protein kinase.			
STK40	0	broad.mit.edu	GRCh37	1	36820904	36820904	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-81-5910-01	TCGA-81-5910-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373129.3:c.473A>G	p.Asn158Ser	p.N158S	ENST00000373129	NM_032017.1	158	aAc/aGc	0			1			C	N/S	uc001cak.1	protein_coding	YES	CCDS407.1			473/1308									ovary(1)	1	c.(472-474)AAC>AGC			Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR22961,hmmpanther:PTHR22961:SF1,SMART_domains:SM00220,Superfamily_domains:SSF56112	serine/threonine kinase 40				ENSP00000362221		12-Jun									COSM3400713,COSM3400716,COSM3400714,COSM3400715	12-Jun	.		ENST00000373129	Transcript				cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	ENSG00000196182	g.chr1:36820904T>C	21373			MODERATE		0.54	neutral	getma.org/?cm=msa&ty=f&p=STK40_HUMAN&rb=40&re=328&var=N158S	getma.org/pdb.php?prot=STK40_HUMAN&from=40&to=328&var=N158S	getma.org/?cm=var&var=hg19,1,36820904,T,C&fts=all	N158S	--	--	1																																		STK40_uc001cal.1_Missense_Mutation_p.N163S|STK40_uc001cam.1_Missense_Mutation_p.N158S|STK40_uc009vva.1_Missense_Mutation_p.N158S|STK40_uc001can.1_Missense_Mutation_p.N158S	1,1,1,1	1		probably_damaging(0.961)	p.N158S	NM_032017	NP_114406		tolerated(0.07)	1,1,1,1	STK40_HUMAN	STK40	HGNC	Q8N2I9	STK40_HUMAN					6	880	-		Myeloproliferative disorder(586;0.0393)	UPI0000073E73	158			Protein kinase.		SNV	STK40,missense_variant,p.Asn158Ser,ENST00000359297,;STK40,missense_variant,p.Asn158Ser,ENST00000373129,NM_032017.1;STK40,missense_variant,p.Asn163Ser,ENST00000373130,NM_001282546.1;STK40,missense_variant,p.Asn158Ser,ENST00000373132,NM_001282547.1;STK40,non_coding_transcript_exon_variant,,ENST00000482458,;STK40,non_coding_transcript_exon_variant,,ENST00000460417,;STK40,non_coding_transcript_exon_variant,,ENST00000473733,;	uc001cak.1	c.473A>G	880/3846	4	4			c.473A>G						1	SNP	c.(472-474)AAC>AGC	33	33			ovary(1)	1	Broad	serine/threonine kinase 40			36820904		0.562	ENSG00000196182	15073	g.chr1:36820904T>C		cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			230			230	377.664066	KEEP	55	74	-1	72	87	55	74	-1	378.358859	72	87	0.443548	1	0	0	0	0	1	0	0	0	--	--		0	C			STK40_uc001cal.1_Missense_Mutation_p.N163S|STK40_uc001cam.1_Missense_Mutation_p.N158S|STK40_uc009vva.1_Missense_Mutation_p.N158S|STK40_uc001can.1_Missense_Mutation_p.N158S	289	GBM-81-5910-TP	p.N158S	T	GTGCTGCAGGTTGATGAGGTC	NM_032017	NP_114406	36820904	Q8N2I9	STK40_HUMAN	0			6	880	-	C	C		Myeloproliferative disorder(586;0.0393)	Missense_Mutation	158			Protein kinase.			
STON1	0	broad.mit.edu	GRCh37	2	48809103	48809103	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-4934-01	TCGA-76-4934-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309835.3:c.1331G>T	p.Cys444Phe	p.C444F	ENST00000309835		444	tGc/tTc	0			1			T	C/F	uc010yol.1	protein_coding		CCDS1841.1			1331/2208									ovary(3)|pancreas(1)|skin(1)	5	c.(1330-1332)TGC>TTC			Superfamily_domains:0038852,PIRSF_domain:PIRSF037099,Pfam_domain:PF00928,Gene3D:2.60.40.1170,hmmpanther:PTHR11998,hmmpanther:PTHR11998:SF18,PROSITE_profiles:PS51072	stonin 1				ENSP00000385273		4-Feb									COSM3407883,COSM3407882	4-Feb	.		ENST00000404752	Transcript			endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		ENSG00000243244	g.chr2:48809103G>T	17003			MODERATE		1.37	low	getma.org/?cm=msa&ty=f&p=STON1_HUMAN&rb=401&re=715&var=C444F	getma.org/pdb.php?prot=STON1_HUMAN&from=401&to=715&var=C444F	getma.org/?cm=var&var=hg19,2,48809103,G,T&fts=all	C444F	--	--	1																																		STON1_uc002rwo.3_Missense_Mutation_p.C444F|STON1_uc010fbm.2_Missense_Mutation_p.C444F|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.C444F|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.C444F	1,1			probably_damaging(0.982)	p.C444F	NM_006873	NP_006864		deleterious(0.01)	1,1	STON1_HUMAN	STON1	HGNC	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)				1	1378	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	UPI000006E627	444					SNV	STON1,missense_variant,p.Cys444Phe,ENST00000309835,;STON1,missense_variant,p.Cys444Phe,ENST00000406226,NM_001198595.1;STON1,missense_variant,p.Cys444Phe,ENST00000404752,NM_006873.3;STON1-GTF2A1L,missense_variant,p.Cys444Phe,ENST00000394754,NM_172311.2;STON1-GTF2A1L,missense_variant,p.Cys444Phe,ENST00000405008,;STON1-GTF2A1L,missense_variant,p.Cys444Phe,ENST00000402114,NM_001198593.1;STON1-GTF2A1L,missense_variant,p.Cys444Phe,ENST00000309827,;STON1-GTF2A1L,missense_variant,p.Cys444Phe,ENST00000394751,NM_001198594.1;STON1,upstream_gene_variant,,ENST00000444932,;	uc010yol.1	c.1331G>T	1424/5511	2	2			c.1331G>T						2	SNP	c.(1330-1332)TGC>TTC	34	34			ovary(3)|pancreas(1)|skin(1)	5	Broad	stonin 1			48809103		0.383	ENSG00000243244	15083	g.chr2:48809103G>T	endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex								582.384523	KEEP	105	105	0.5	92	101	105	105	0.5	582.638105	92	101	0.52924	1	0	0	0	0	1	0	0	0	--	--		0	T			STON1_uc002rwo.3_Missense_Mutation_p.C444F|STON1_uc010fbm.2_Missense_Mutation_p.C444F|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.C444F|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.C444F	272	GBM-76-4934-TP	p.C444F	G	CAAATTTATTGCCTCTGCTTT	NM_006873	NP_006864	48809103	B7ZL16	B7ZL16_HUMAN	0	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	1378	+	T	T		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Missense_Mutation	444						
STON1	11037		GRCh37	2	48809567	48809567	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000309835.3:c.1795C>T	p.Arg599Cys	p.R599C	ENST00000309835		599	Cgc/Tgc	0																																																																																																																																																																																																																																												
STON2	0	broad.mit.edu	GRCh37	14	81744671	81744671	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-27-1835-01	TCGA-27-1835-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267540.2:c.984C>G	p.Ile328Met	p.I328M	ENST00000267540	NM_033104.3	328	atC/atG	0			1			C	I/M	uc010tvu.1	protein_coding		CCDS9875.1			984/2718									skin(3)|pancreas(2)	5	c.(982-984)ATC>ATG			hmmpanther:PTHR11998,hmmpanther:PTHR11998:SF19,Pfam_domain:PF12016,PIRSF_domain:PIRSF037099	stonin 2				ENSP00000267540		5-Apr									COSM3401491	5-Apr	.		ENST00000267540	Transcript			endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	ENSG00000140022	g.chr14:81744671G>C	30652			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=STON2_HUMAN&rb=1&re=340&var=I328M	getma.org/pdb.php?prot=STON2_HUMAN&from=1&to=340&var=I328M	getma.org/?cm=var&var=hg19,14,81744671,G,C&fts=all	I328M	--	--	1																																		STON2_uc001xvk.1_Missense_Mutation_p.I328M|STON2_uc010tvt.1_Missense_Mutation_p.I125M	1			probably_damaging(0.998)	p.I328M	NM_033104	NP_149095		deleterious(0)	1	STON2_HUMAN	STON2	HGNC	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	G3V322_HUMAN		4	1185	-			UPI000007259C	328					SNV	STON2,missense_variant,p.Ile328Met,ENST00000555447,NM_001256430.1;STON2,missense_variant,p.Ile328Met,ENST00000267540,NM_033104.3;STON2,upstream_gene_variant,,ENST00000553821,;STON2,downstream_gene_variant,,ENST00000556280,;STON2,non_coding_transcript_exon_variant,,ENST00000555284,;	uc010tvu.1	c.984C>G	1185/2977	3	3			c.984C>G						14	SNP	c.(982-984)ATC>ATG	64	64			skin(3)|pancreas(2)	5	Broad	stonin 2			81744671		0.512	ENSG00000140022	15084	g.chr14:81744671G>C	endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding							43.27843	KEEP	12	7	-1	49	45	12	7	-1	54.658164	49	45	0.166667	1	0	0	0	0	1	0	0	0	--	--		0	C			STON2_uc001xvk.1_Missense_Mutation_p.I328M|STON2_uc010tvt.1_Missense_Mutation_p.I125M	194	GBM-27-1835-TP	p.I328M	G	TGAAAGGGTTGATAGGGGAGG	NM_033104	NP_149095	81744671	Q8WXE9	STON2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(234;0.0348)	4	1185	-	C	C			Missense_Mutation	328						
STON2	0	broad.mit.edu	GRCh37	14	81744722	81744722	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-41-5651-01	TCGA-41-5651-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267540.2:c.933A>C	p.Ala311=	p.A311=	ENST00000267540	NM_033104.3	311	gcA/gcC	0			1			G	A	uc010tvu.1	protein_coding		CCDS9875.1			933/2718									skin(3)|pancreas(2)	5	c.(931-933)GCA>GCC			hmmpanther:PTHR11998,hmmpanther:PTHR11998:SF19,Pfam_domain:PF12016,PIRSF_domain:PIRSF037099	stonin 2				ENSP00000267540		5-Apr									COSM3401492	5-Apr	.		ENST00000267540	Transcript			endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	ENSG00000140022	g.chr14:81744722T>G	30652			LOW								--	--	1																																		STON2_uc001xvk.1_Silent_p.A311A|STON2_uc010tvt.1_Silent_p.A108A	1				p.A311A	NM_033104	NP_149095			1	STON2_HUMAN	STON2	HGNC	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	G3V322_HUMAN		4	1134	-			UPI000007259C	311					SNV	STON2,synonymous_variant,p.=,ENST00000555447,NM_001256430.1;STON2,synonymous_variant,p.=,ENST00000267540,NM_033104.3;STON2,upstream_gene_variant,,ENST00000553821,;STON2,downstream_gene_variant,,ENST00000556280,;STON2,non_coding_transcript_exon_variant,,ENST00000555284,;	uc010tvu.1	c.933A>C	1134/2977	3	3			c.933A>C						14	SNP	c.(931-933)GCA>GCC	1	1			skin(3)|pancreas(2)	5	Broad	stonin 2			81744722		0.498	ENSG00000140022	15084	g.chr14:81744722T>G	endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding							-12.12263	KEEP	4	2	-1	54	68	4	2	-1	15.291297	54	68	0.047619	1	0	0	0	0	0	0	1	0	--	--		0	G			STON2_uc001xvk.1_Silent_p.A311A|STON2_uc010tvt.1_Silent_p.A108A	258	GBM-41-5651-TP	p.A311A	T	AAGGGTTGGTTGCCCTCCAAG	NM_033104	NP_149095	81744722	Q8WXE9	STON2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(234;0.0348)	4	1134	-	G	G			Silent	311						
STOX1	0	broad.mit.edu	GRCh37	10	70644150	70644150	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298596.6:c.598C>T	p.Gln200Ter	p.Q200*	ENST00000298596	NM_152709.4	200	Cag/Tag	0			1			T	Q/*	uc001jos.2	protein_coding	YES	CCDS41535.1			598/2970									kidney(1)|skin(1)	2	c.(598-600)CAG>TAG			hmmpanther:PTHR22437,hmmpanther:PTHR22437:SF1	storkhead box 1 isoform a				ENSP00000298596		4-Mar									COSM3397220	4-Mar	.		ENST00000298596	Transcript	1			cytoplasm|nucleolus	DNA binding	ENSG00000165730	g.chr10:70644150C>T	23508			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,10,70644150,C,T&fts=all	Q200*	--	--	1																																		STOX1_uc001jor.2_Nonsense_Mutation_p.Q200*|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Nonsense_Mutation_p.Q90*	1	1			p.Q200*	NM_001130161	NP_001123633			1	STOX1_HUMAN	STOX1	HGNC	Q6ZVD7	STOX1_HUMAN			C9JRL1_HUMAN		3	685	+			UPI00004B59B0	200					SNV	STOX1,stop_gained,p.Gln200Ter,ENST00000298596,NM_152709.4;STOX1,stop_gained,p.Gln200Ter,ENST00000399169,NM_001130161.2;STOX1,stop_gained,p.Gln90Ter,ENST00000421961,NM_001130162.2;STOX1,stop_gained,p.Gln200Ter,ENST00000399165,NM_001130159.2;STOX1,intron_variant,,ENST00000399162,NM_001130160.2;	uc001jos.2	c.598C>T	681/3377	5	2			c.598C>T						10	SNP	c.(598-600)CAG>TAG	28	28			kidney(1)|skin(1)	2	Broad	storkhead box 1 isoform a			70644150		0.443	ENSG00000165730	15085	g.chr10:70644150C>T		cytoplasm|nucleolus	DNA binding							120.4426	KEEP	22	22	-1	5	8	22	22	-1	123.325973	5	8	0.755102	1	0	0	0	0	0	1	0	0	--	--		0	T			STOX1_uc001jor.2_Nonsense_Mutation_p.Q200*|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Nonsense_Mutation_p.Q90*	177	GBM-19-5959-TP	p.Q200*	C	TACAACCACCCAGGAAAATAA	NM_001130161	NP_001123633	70644150	Q6ZVD7	STOX1_HUMAN	0			3	685	+	T	T			Nonsense_Mutation	200						
STOX2	56977		GRCh37	4	184938294	184938294	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000308497.4:c.2638C>T	p.Arg880Cys	p.R880C	ENST00000308497	NM_020225.1	880	Cgt/Tgt	0																																																																																																																																																																																																																																												
STPG1	90529	broad.mit.edu	GRCh37	1	24710467	24710467	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0174-01	TCGA-06-0174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374409.1:c.216C>A	p.Tyr72Ter	p.Y72*	ENST00000374409	NM_001199012.1	72	taC/taA	0			1			T	Y/*	uc001bjc.2	protein_coding		CCDS55581.1			216/1005									ovary(1)|breast(1)	2	c.(214-216)TAC>TAA			Pfam_domain:PF07004,hmmpanther:PTHR21580,hmmpanther:PTHR21580:SF11	RecName: Full=UPF0490 protein C1orf201;				ENSP00000337461		9-Apr									COSM3400571,COSM3400570	9-Apr	.		ENST00000337248	Transcript						ENSG00000001460	g.chr1:24710467G>T	28070			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,24710467,G,T&fts=all	Y72*	--	--	1																																		C1orf201_uc001bja.2_Nonsense_Mutation_p.Y25*|C1orf201_uc001bjb.2_5'UTR|C1orf201_uc001bjd.2_Nonsense_Mutation_p.Y72*|C1orf201_uc001bje.1_Nonsense_Mutation_p.Y25*|C1orf201_uc001bjf.2_5'UTR	1,1				p.Y72*					1,1	STPG1_HUMAN	STPG1	HGNC	Q5TH74	CA201_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.48e-25)|Colorectal(126;7.29e-08)|COAD - Colon adenocarcinoma(152;3.85e-06)|GBM - Glioblastoma multiforme(114;0.000399)|BRCA - Breast invasive adenocarcinoma(304;0.00107)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00393)|READ - Rectum adenocarcinoma(331;0.0672)|Lung(427;0.145)			4	351	-		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0191)|all_lung(284;0.0251)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.056)	UPI0000049C6B	72					SNV	STPG1,stop_gained,p.Tyr72Ter,ENST00000374409,NM_001199012.1;STPG1,stop_gained,p.Tyr72Ter,ENST00000337248,NM_001199014.1,NM_001199013.1;STPG1,stop_gained,p.Tyr25Ter,ENST00000003583,NM_178122.4;STPG1,stop_gained,p.Tyr25Ter,ENST00000440416,;STPG1,stop_gained,p.Tyr49Ter,ENST00000435187,;STPG1,upstream_gene_variant,,ENST00000438866,;STPG1,non_coding_transcript_exon_variant,,ENST00000468303,;STPG1,non_coding_transcript_exon_variant,,ENST00000497384,;	uc001bjc.2	c.216C>A	351/2646	5	1			c.216C>A						1	SNP	c.(214-216)TAC>TAA	8	8			ovary(1)|breast(1)	2	Broad	RecName: Full=UPF0490 protein C1orf201;			24710467		0.413	ENSG00000001460	1984	g.chr1:24710467G>T										-31.060993	KEEP	5	6	0.454545455	111	137	5	6	0.454545455	21.440854	111	137	0.042735	1	0	0	0	0	0	1	0	0	--	--		0	T			C1orf201_uc001bja.2_Nonsense_Mutation_p.Y25*|C1orf201_uc001bjb.2_5'UTR|C1orf201_uc001bjd.2_Nonsense_Mutation_p.Y72*|C1orf201_uc001bje.1_Nonsense_Mutation_p.Y25*|C1orf201_uc001bjf.2_5'UTR	37	GBM-06-0174-TP	p.Y72*	G	GAATAACATTGTAGAACCCAG			24710467	Q5TH74	CA201_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.48e-25)|Colorectal(126;7.29e-08)|COAD - Colon adenocarcinoma(152;3.85e-06)|GBM - Glioblastoma multiforme(114;0.000399)|BRCA - Breast invasive adenocarcinoma(304;0.00107)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00393)|READ - Rectum adenocarcinoma(331;0.0672)|Lung(427;0.145)	4	351	-	T	T		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0191)|all_lung(284;0.0251)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.056)	Nonsense_Mutation	72						
STRBP	55342		GRCh37	9	125909182	125909182	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000447404.2:c.1290A>G	p.Glu430=	p.E430=	ENST00000447404		430	gaA/gaG	0																																																																																																																																																																																																																																												
STRC	161497		GRCh37	15	43893602	43893602	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000450892.2:c.4693A>G	p.Thr1565Ala	p.T1565A	ENST00000450892	NM_153700.2	1565	Acc/Gcc	0																																																																																																																																																																																																																																												
STRIP2	57464	broad.mit.edu	GRCh37	7	129104580	129104580	+	splice_donor_variant	Splice_Site	SNP	G	G	A			TCGA-06-5859-01	TCGA-06-5859-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000249344.2:c.1776+1G>A		p.X592_splice	ENST00000249344	NM_020704.2	592		0			1			A		uc011koy.1	protein_coding	YES	CCDS34752.1			1776/2505										0	c.e16+1				hypothetical protein LOC57464 isoform a				ENSP00000249344											COSM2153402		.		ENST00000249344	Transcript						ENSG00000128578	g.chr7:129104580G>A	22209			HIGH	16/20							--	--	1																																		FAM40B_uc003vow.2_Splice_Site_p.Q592_splice|FAM40B_uc011koz.1_Splice_Site_p.Q84_splice	1	1			p.Q592_splice	NM_020704	NP_065755			1	STRP2_HUMAN	STRIP2	HGNC	Q9ULQ0	FA40B_HUMAN			A4D1K4_HUMAN		16	1816	+			UPI00001C1E68						SNV	STRIP2,splice_donor_variant,,ENST00000249344,NM_020704.2;STRIP2,splice_donor_variant,,ENST00000435494,NM_001134336.1;STRIP2,downstream_gene_variant,,ENST00000465033,;	uc011koy.1	c.1776_splice	-/5115	5	2			c.1776_splice						7	SNP	c.e16+1	30	30				0	Broad	hypothetical protein LOC57464 isoform a			129104580		0.468	ENSG00000128578	5466	g.chr7:129104580G>A										111.679619	KEEP	21	26	-1	55	72	21	26	-1	117.744066	55	72	0.285714	1	0	0	0	0	0	0	0	1	--	--		0	A			FAM40B_uc003vow.2_Splice_Site_p.Q592_splice|FAM40B_uc011koz.1_Splice_Site_p.Q84_splice	103	GBM-06-5859-TP	p.Q592_splice	G	TATCTACCAGGTGAGCAGCTA	NM_020704	NP_065755	129104580	Q9ULQ0	FA40B_HUMAN	0			16	1816	+	A	A			Splice_Site							
STRN	6801	broad.mit.edu	GRCh37	2	37121134	37121153	+	frameshift_variant	Frame_Shift_Del	DEL	CTCGATCTTCACCGCTGTCA	CTCGATCTTCACCGCTGTCA	-			TCGA-06-0174-01	TCGA-06-0174-01	CTCGATCTTCACCGCTGTCA	CTCGATCTTCACCGCTGTCA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263918.4:c.819_838del	p.Asp274TyrfsTer9	p.D274Yfs*9	ENST00000263918	NM_003162.3	273	ccTGACAGCGGTGAAGATCGAGat/ccat	0			1			-	PDSGEDRD/PX	uc002rpn.2	protein_coding	YES	CCDS1784.1			819-838/2343									skin(1)	1	c.(817-840)CCTGACAGCGGTGAAGATCGAGATfs			hmmpanther:PTHR15653,hmmpanther:PTHR15653:SF2	striatin, calmodulin binding protein				ENSP00000263918		18-Jul										18-Jul	.		ENST00000263918	Transcript			dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	ENSG00000115808	g.chr2:37121134_37121153delCTCGATCTTCACCGCTGTCA	11424			HIGH								--	--	1																																		STRN_uc010ezx.2_Frame_Shift_Del_p.P273fs		1			p.P273fs	NM_003162	NP_003153				STRN_HUMAN	STRN	HGNC	O43815	STRN_HUMAN					7	828_847	-		Ovarian(717;0.0129)|all_hematologic(82;0.21)	UPI000013D48A	273_280					deletion	STRN,frameshift_variant,p.Asp274TyrfsTer9,ENST00000263918,NM_003162.3;STRN,frameshift_variant,p.Asp262TyrfsTer9,ENST00000379213,;STRN,non_coding_transcript_exon_variant,,ENST00000495595,;	uc002rpn.2	c.819_838delTGACAGCGGTGAAGATCGAG	828-847/8168	5	5			c.819_838delTGACAGCGGTGAAGATCGAG						2	DEL	c.(817-840)CCTGACAGCGGTGAAGATCGAGATfs	6	6			skin(1)	1	Broad	striatin, calmodulin binding protein			37121153		0.368	ENSG00000115808	15095	g.chr2:37121134_37121153delCTCGATCTTCACCGCTGTCA	dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding																				0.26	1	1	0	1	0	0	0	0	0	--	--		0	-			STRN_uc010ezx.2_Frame_Shift_Del_p.P273fs	37	GBM-06-0174-TP	p.P273fs	CTCGATCTTCACCGCTGTCA	TCTTTTGTATCTCGATCTTCACCGCTGTCAGGCAATGCTT	NM_003162	NP_003153	37121134	O43815	STRN_HUMAN	0			7	828_847	-	-	-		Ovarian(717;0.0129)|all_hematologic(82;0.21)	Frame_Shift_Del	273_280						
STRN	0	broad.mit.edu	GRCh37	2	37152302	37152302	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-5207-01	TCGA-28-5207-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263918.4:c.284A>G	p.Lys95Arg	p.K95R	ENST00000263918	NM_003162.3	95	aAg/aGg	0			1			C	K/R	uc002rpn.2	protein_coding	YES	CCDS1784.1			284/2343									skin(1)	1	c.(283-285)AAG>AGG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15653,hmmpanther:PTHR15653:SF2,Pfam_domain:PF08232	striatin, calmodulin binding protein				ENSP00000263918		18-Feb									COSM3407847	18-Feb	.		ENST00000263918	Transcript			dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	ENSG00000115808	g.chr2:37152302T>C	11424			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=STRN_HUMAN&rb=48&re=181&var=K95R	NA	getma.org/?cm=var&var=hg19,2,37152302,T,C&fts=all	K95R	--	--	1																																		STRN_uc010ezx.2_Missense_Mutation_p.K95R	1	1		possibly_damaging(0.846)	p.K95R	NM_003162	NP_003153		deleterious(0)	1	STRN_HUMAN	STRN	HGNC	O43815	STRN_HUMAN					2	293	-		Ovarian(717;0.0129)|all_hematologic(82;0.21)	UPI000013D48A	95			Potential.		SNV	STRN,missense_variant,p.Lys95Arg,ENST00000263918,NM_003162.3;STRN,missense_variant,p.Lys83Arg,ENST00000379213,;	uc002rpn.2	c.284A>G	293/8168	3	3			c.284A>G						2	SNP	c.(283-285)AAG>AGG	8	8			skin(1)	1	Broad	striatin, calmodulin binding protein			37152302		0.353	ENSG00000115808	15095	g.chr2:37152302T>C	dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding							-20.464961	KEEP	2	11	-1	113	109	2	11	-1	20.910353	113	109	0.043243	1	0	0	0	0	1	0	0	0	--	--		0	C			STRN_uc010ezx.2_Missense_Mutation_p.K95R	216	GBM-28-5207-TP	p.K95R	T	AAGATCCTTCTTCAAATTTTC	NM_003162	NP_003153	37152302	O43815	STRN_HUMAN	0			2	293	-	C	C		Ovarian(717;0.0129)|all_hematologic(82;0.21)	Missense_Mutation	95			Potential.			
STRN3	29966	broad.mit.edu	GRCh37	14	31425409	31425409	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357479.5:c.322G>T	p.Glu108Ter	p.E108*	ENST00000357479	NM_001083893.1	108	Gag/Tag	0			1			A	E/*	uc001wqu.2	protein_coding	YES	CCDS41938.1			322/2394										0	c.(322-324)GAG>TAG			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF08232,hmmpanther:PTHR15653,hmmpanther:PTHR15653:SF3	nuclear autoantigen isoform 1				ENSP00000350071		18-Feb									COSM3401286,COSM3401285	18-Feb	.		ENST00000357479	Transcript			negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	ENSG00000196792	g.chr14:31425409C>A	15720			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,14,31425409,C,A&fts=all	E108*	--	--	1																																		STRN3_uc001wqv.2_Nonsense_Mutation_p.E108*|STRN3_uc010tpj.1_RNA	1,1	1			p.E108*	NM_001083893	NP_001077362			1,1	STRN3_HUMAN	STRN3	HGNC	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	G3V3G7_HUMAN		2	538	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		UPI0000F734B1	108			Potential.		SNV	STRN3,stop_gained,p.Glu108Ter,ENST00000355683,NM_014574.3;STRN3,stop_gained,p.Glu108Ter,ENST00000357479,NM_001083893.1;STRN3,5_prime_UTR_variant,,ENST00000555152,;STRN3,stop_gained,p.Glu108Ter,ENST00000555358,;	uc001wqu.2	c.322G>T	519/2799	5	1			c.322G>T						14	SNP	c.(322-324)GAG>TAG	53	53				0	Broad	nuclear autoantigen isoform 1			31425409		0.328	ENSG00000196792	15096	g.chr14:31425409C>A	negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity							111.69359	KEEP	18	24	0.571428571	33	36	18	24	0.571428571	112.843844	33	36	0.386139	1	0	0	0	0	0	1	0	0	--	--		0	A			STRN3_uc001wqv.2_Nonsense_Mutation_p.E108*|STRN3_uc010tpj.1_RNA	65	GBM-06-0743-TP	p.E108*	C	TTCAGGTTCTCTTGACCTTTT	NM_001083893	NP_001077362	31425409	Q13033	STRN3_HUMAN	0	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	2	538	-	A	A	Hepatocellular(127;0.0877)|Breast(36;0.148)		Nonsense_Mutation	108			Potential.			
STUB1	0	broad.mit.edu	GRCh37	16	731823	731823	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000219548.4:c.555G>T	p.Glu185Asp	p.E185D	ENST00000219548	NM_005861.2	185	gaG/gaT	0			1			T	E/D	uc002cit.2	protein_coding	YES	CCDS10419.1			555/912										0	c.(553-555)GAG>GAT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF305,Gene3D:1.25.40.10	STIP1 homology and U-box containing protein 1				ENSP00000219548		7-Apr									COSM3402474	7-Apr	.		ENST00000219548	Transcript	1		cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity	ENSG00000103266	g.chr16:731823G>T	11427			MODERATE		0.08	neutral	getma.org/?cm=msa&ty=f&p=CHIP_HUMAN&rb=127&re=226&var=E185D	getma.org/pdb.php?prot=CHIP_HUMAN&from=127&to=226&var=E185D	getma.org/?cm=var&var=hg19,16,731823,G,T&fts=all	E185D	--	--	1																																		STUB1_uc002ciu.2_Missense_Mutation_p.E113D|STUB1_uc010bqz.2_RNA|STUB1_uc002civ.2_RNA|JMJD8_uc002ciw.1_3'UTR|JMJD8_uc002cix.1_3'UTR|JMJD8_uc002ciy.1_3'UTR	1	1		benign(0)	p.E185D	NM_005861	NP_005852		tolerated(0.2)	1	CHIP_HUMAN	STUB1	HGNC	Q9UNE7	CHIP_HUMAN					4	966	+		Hepatocellular(780;0.00335)	UPI000006E1B4	185					SNV	STUB1,missense_variant,p.Glu113Asp,ENST00000565677,;STUB1,missense_variant,p.Glu185Asp,ENST00000219548,NM_005861.2;STUB1,missense_variant,p.Glu113Asp,ENST00000564370,;STUB1,missense_variant,p.Glu166Asp,ENST00000567173,;STUB1,missense_variant,p.Glu52Asp,ENST00000564316,;STUB1,missense_variant,p.Glu91Asp,ENST00000566408,;JMJD8,3_prime_UTR_variant,,ENST00000293882,;JMJD8,3_prime_UTR_variant,,ENST00000412368,NM_001005920.2;JMJD8,3_prime_UTR_variant,,ENST00000454700,;JMJD8,3_prime_UTR_variant,,ENST00000609261,;WDR24,downstream_gene_variant,,ENST00000293883,NM_032259.2;WDR24,downstream_gene_variant,,ENST00000248142,;RHBDL1,downstream_gene_variant,,ENST00000219551,;RHBDL1,downstream_gene_variant,,ENST00000352681,NM_001278721.1,NM_001278720.1;JMJD8,downstream_gene_variant,,ENST00000562824,;JMJD8,downstream_gene_variant,,ENST00000562111,;RHBDL1,downstream_gene_variant,,ENST00000561556,;LA16c-313D11.9,upstream_gene_variant,,ENST00000571933,;LA16c-313D11.9,upstream_gene_variant,,ENST00000567091,;STUB1,non_coding_transcript_exon_variant,,ENST00000566181,;JMJD8,non_coding_transcript_exon_variant,,ENST00000567120,;JMJD8,non_coding_transcript_exon_variant,,ENST00000568689,;JMJD8,non_coding_transcript_exon_variant,,ENST00000565302,;STUB1,non_coding_transcript_exon_variant,,ENST00000569248,;STUB1,non_coding_transcript_exon_variant,,ENST00000563505,;RHBDL1,downstream_gene_variant,,ENST00000450775,;JMJD8,downstream_gene_variant,,ENST00000569441,;JMJD8,downstream_gene_variant,,ENST00000563088,;JMJD8,downstream_gene_variant,,ENST00000568313,;JMJD8,downstream_gene_variant,,ENST00000570037,;JMJD8,downstream_gene_variant,,ENST00000567901,;WDR24,downstream_gene_variant,,ENST00000567014,;JMJD8,downstream_gene_variant,,ENST00000569396,;JMJD8,downstream_gene_variant,,ENST00000566199,;JMJD8,downstream_gene_variant,,ENST00000564436,;JMJD8,downstream_gene_variant,,ENST00000565258,;STUB1,downstream_gene_variant,,ENST00000567790,;STUB1,upstream_gene_variant,,ENST00000565813,;	uc002cit.2	c.555G>T	805/1472	2	2			c.555G>T						16	SNP	c.(553-555)GAG>GAT	29	29				0	Broad	STIP1 homology and U-box containing protein 1			731823		0.637	ENSG00000103266	15101	g.chr16:731823G>T	cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity							44.781159	KEEP	12	7	0.631578947	26	30	12	7	0.631578947	48.588387	26	30	0.260274	1	0	0	0	0	1	0	0	0	--	--		0	T			STUB1_uc002ciu.2_Missense_Mutation_p.E113D|STUB1_uc010bqz.2_RNA|STUB1_uc002civ.2_RNA|JMJD8_uc002ciw.1_3'UTR|JMJD8_uc002cix.1_3'UTR|JMJD8_uc002ciy.1_3'UTR	232	GBM-32-1982-TP	p.E185D	G	GAAACCACGAGGGTGATGAGG	NM_005861	NP_005852	731823	Q9UNE7	CHIP_HUMAN	0			4	966	+	T	T		Hepatocellular(780;0.00335)	Missense_Mutation	185						
STX1B	112755		GRCh37	16	31004532	31004532	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000215095.5:c.705C>T	p.Asn235=	p.N235=	ENST00000215095	NM_052874.3	235	aaC/aaT	0																																																																																																																																																																																																																																												
STX6	10228	broad.mit.edu	GRCh37	1	180971810	180971810	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-02-0055-01	TCGA-02-0055-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258301.5:c.232T>C	p.Phe78Leu	p.F78L	ENST00000258301	NM_005819.4	78	Ttt/Ctt	0			1			G	F/L	uc010pnq.1	protein_coding	YES	CCDS1341.1			232/768									ovary(1)	1	c.(232-234)TTT>CTT			Gene3D:1.20.58.90,Pfam_domain:PF09177,hmmpanther:PTHR12380,hmmpanther:PTHR12380:SF35,Superfamily_domains:SSF47661	syntaxin 6				ENSP00000258301		8-Mar									COSM3400064	8-Mar	.		ENST00000258301	Transcript			Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity	ENSG00000135823	g.chr1:180971810A>G	11441			MODERATE		3.265	medium	getma.org/?cm=msa&ty=f&p=STX6_HUMAN&rb=5&re=103&var=F78L	getma.org/pdb.php?prot=STX6_HUMAN&from=5&to=103&var=F78L	getma.org/?cm=var&var=hg19,1,180971810,A,G&fts=all	F78L	--	--	1																																		STX6_uc001goo.2_Missense_Mutation_p.F78L|STX6_uc010pnr.1_Intron	1	1		probably_damaging(0.993)	p.F78L	NM_005819	NP_005810		deleterious(0.01)	1	STX6_HUMAN	STX6	HGNC	O43752	STX6_HUMAN			B4DR17_HUMAN		3	469	-			UPI00000490D6	78			Cytoplasmic (Potential).		SNV	STX6,missense_variant,p.Phe78Leu,ENST00000258301,NM_005819.4;STX6,intron_variant,,ENST00000542060,NM_001286210.1;	uc010pnq.1	c.232T>C	470/4851	3	3			c.232T>C						1	SNP	c.(232-234)TTT>CTT	1	1			ovary(1)	1	Broad	syntaxin 6			180971810		0.353	ENSG00000135823	15115	g.chr1:180971810A>G	Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity							-25.95584	KEEP	1	5	-1	72	91	1	5	-1	11.384576	72	91	0.032051	1	0	0	0	0	1	0	0	0	--	--		0	G			STX6_uc001goo.2_Missense_Mutation_p.F78L|STX6_uc010pnr.1_Intron	4	GBM-02-0055-TP	p.F78L	A	TCAAGGTTAAATTTTCTAGGA	NM_005819	NP_005810	180971810	O43752	STX6_HUMAN	0			3	469	-	G	G			Missense_Mutation	78			Cytoplasmic (Potential).			
STX7	8417	broad.mit.edu	GRCh37	6	132792715	132792715	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01	TCGA-06-5415-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367941.2:c.274C>T	p.Arg92Cys	p.R92C	ENST00000367941	NM_003569.2	92	Cgc/Tgc	0			1			A	R/C	uc003qdg.2	protein_coding	YES	CCDS5153.1			274/786										0	c.(274-276)CGC>TGC			Gene3D:1.20.58.70,Pfam_domain:PF14523,hmmpanther:PTHR19957,hmmpanther:PTHR19957:SF90,SMART_domains:SM00503,Superfamily_domains:SSF47661	syntaxin 7				ENSP00000356918		10-May	8.24E-06					1.50E-05			rs773741919,COSM2153252	10-May	.		ENST00000367941	Transcript			intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity	ENSG00000079950	g.chr6:132792715G>A	11442			MODERATE		2.865	medium	getma.org/?cm=msa&ty=f&p=STX7_HUMAN&rb=9&re=101&var=R92C	getma.org/pdb.php?prot=STX7_HUMAN&from=9&to=101&var=R92C	getma.org/?cm=var&var=hg19,6,132792715,G,A&fts=all	R92C	--	--	1																																		STX7_uc011ecg.1_Intron|STX7_uc011ech.1_Intron	0,1	1		probably_damaging(0.996)	p.R92C	NM_003569	NP_003560		deleterious(0)	0,1	STX7_HUMAN	STX7	HGNC	O15400	STX7_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)			5	524	-	Breast(56;0.0615)		UPI0000136167	92			Cytoplasmic (Potential).		SNV	STX7,missense_variant,p.Arg92Cys,ENST00000367941,NM_003569.2;STX7,missense_variant,p.Arg92Cys,ENST00000367937,;STX7,non_coding_transcript_exon_variant,,ENST00000448348,;STX7,downstream_gene_variant,,ENST00000475879,;	uc003qdg.2	c.274C>T	388/15791	1	1			c.274C>T						6	SNP	c.(274-276)CGC>TGC	63	63				0	Broad	syntaxin 7			132792715		0.453	ENSG00000079950	15116	g.chr6:132792715G>A	intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity							242.642893	KEEP	35	52	-1	30	26	35	52	-1	243.551637	30	26	0.590551	1	0	0	0	0	1	0	0	0	--	--		0	A			STX7_uc011ecg.1_Intron|STX7_uc011ech.1_Intron	98	GBM-06-5415-TP	p.R92C	G	GCCACTAAGCGATCCTTCTGT	NM_003569	NP_003560	132792715	O15400	STX7_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)	5	524	-	A	A	Breast(56;0.0615)		Missense_Mutation	92			Cytoplasmic (Potential).			
STXBP1	0	broad.mit.edu	GRCh37	9	130422360	130422360	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373299.1:c.298C>T	p.Arg100Trp	p.R100W	ENST00000373299	NM_001032221.3	100	Cgg/Tgg	0			1			T	R/W	uc004brl.2	protein_coding		CCDS35146.1			298/1785									skin(1)	1	c.(298-300)CGG>TGG			hmmpanther:PTHR11679:SF35,hmmpanther:PTHR11679,Gene3D:3.40.50.2060,Pfam_domain:PF00995,PIRSF_domain:PIRSF005715,Superfamily_domains:SSF56815	syntaxin binding protein 1 isoform b				ENSP00000362396		19-May	8.24E-06					1.50E-05			rs764758291,COSM3413346,COSM3413347	19-May	.		ENST00000373299	Transcript	1		axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	ENSG00000136854	g.chr9:130422360C>T	11444			MODERATE		2.67	medium	getma.org/?cm=msa&ty=f&p=STXB1_HUMAN&rb=28&re=582&var=R100W	getma.org/pdb.php?prot=STXB1_HUMAN&from=28&to=582&var=R100W	getma.org/?cm=var&var=hg19,9,130422360,C,T&fts=all	R100W	--	--	1																																		STXBP1_uc004brk.2_Missense_Mutation_p.R100W	0,1,1			benign(0.005)	p.R100W	NM_001032221	NP_001027392		deleterious(0.03)	0,1,1	STXB1_HUMAN	STXBP1	HGNC	P61764	STXB1_HUMAN			Q68CM6_HUMAN,Q59GC9_HUMAN		5	495	+			UPI0000000ED9	100					SNV	STXBP1,missense_variant,p.Arg100Trp,ENST00000373302,NM_003165.3;STXBP1,missense_variant,p.Arg100Trp,ENST00000373299,NM_001032221.3;STXBP1,upstream_gene_variant,,ENST00000496504,;STXBP1,upstream_gene_variant,,ENST00000495829,;	uc004brl.2	c.298C>T	413/3759	2	2			c.298C>T						9	SNP	c.(298-300)CGG>TGG	37	37			skin(1)	1	Broad	syntaxin binding protein 1 isoform b			130422360		0.527	ENSG00000136854	15118	g.chr9:130422360C>T	axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding							-13.952581	KEEP	1	4	-1	57	52	1	4	-1	7.136717	57	52	0.033708	1	0	0	0	0	1	0	0	0	--	--		0	T			STXBP1_uc004brk.2_Missense_Mutation_p.R100W	160	GBM-19-1790-TP	p.R100W	C	TGCTAAATACCGGGCTGCACA	NM_001032221	NP_001027392	130422360	P61764	STXB1_HUMAN	0			5	495	+	T	T			Missense_Mutation	100						
STXBP2	6813	broad.mit.edu	GRCh37	19	7711219	7711219	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0189-01	TCGA-06-0189-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221283.5:c.1441G>C	p.Asp481His	p.D481H	ENST00000221283	NM_006949.3	481	Gat/Cat	0			1			C	D/H	uc002mha.3	protein_coding	YES	CCDS12181.1			1441/1782									central_nervous_system(1)	1	c.(1441-1443)GAT>CAT			hmmpanther:PTHR11679,hmmpanther:PTHR11679:SF27,Gene3D:3.40.50.1910,Pfam_domain:PF00995,PIRSF_domain:PIRSF005715,Superfamily_domains:SSF56815	syntaxin binding protein 2 isoform a				ENSP00000221283		16/19									COSM3404782	16/19	.		ENST00000221283	Transcript	1		leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding	ENSG00000076944	g.chr19:7711219G>C	11445			MODERATE		2.04	medium	getma.org/?cm=msa&ty=f&p=STXB2_HUMAN&rb=28&re=580&var=D481H	getma.org/pdb.php?prot=STXB2_HUMAN&from=28&to=580&var=D481H	getma.org/?cm=var&var=hg19,19,7711219,G,C&fts=all	D481H	--	--	1																																		STXBP2_uc002mhb.3_Missense_Mutation_p.D478H|STXBP2_uc010dvj.2_RNA|STXBP2_uc010xjr.1_Missense_Mutation_p.D492H|STXBP2_uc010dvk.2_Missense_Mutation_p.D449H|STXBP2_uc002mhc.3_Intron|STXBP2_uc002mhe.1_Missense_Mutation_p.D109H	1	1		possibly_damaging(0.784)	p.D481H	NM_006949	NP_008880		deleterious(0)	1	STXB2_HUMAN	STXBP2	HGNC	Q15833	STXB2_HUMAN			R4GMY7_HUMAN,M0QZ54_HUMAN		16	1486	+			UPI000013C7B8	481					SNV	STXBP2,missense_variant,p.Asp492His,ENST00000441779,NM_001272034.1;STXBP2,missense_variant,p.Asp481His,ENST00000221283,NM_006949.3;STXBP2,missense_variant,p.Asp478His,ENST00000414284,NM_001127396.2;STXBP2,missense_variant,p.Asp176His,ENST00000600702,;STXBP2,missense_variant,p.Asp16His,ENST00000602355,;STXBP2,downstream_gene_variant,,ENST00000595950,;STXBP2,missense_variant,p.Arg148Ser,ENST00000599400,;STXBP2,3_prime_UTR_variant,,ENST00000597068,;STXBP2,non_coding_transcript_exon_variant,,ENST00000595800,;STXBP2,non_coding_transcript_exon_variant,,ENST00000601061,;STXBP2,non_coding_transcript_exon_variant,,ENST00000593854,;STXBP2,intron_variant,,ENST00000599737,;CTD-3214H19.4,downstream_gene_variant,,ENST00000595866,;STXBP2,downstream_gene_variant,,ENST00000594221,;CTD-3214H19.4,downstream_gene_variant,,ENST00000598664,;STXBP2,downstream_gene_variant,,ENST00000599648,;STXBP2,downstream_gene_variant,,ENST00000595861,;STXBP2,downstream_gene_variant,,ENST00000599558,;STXBP2,upstream_gene_variant,,ENST00000599278,;	uc002mha.3	c.1441G>C	1472/1876	3	3			c.1441G>C						19	SNP	c.(1441-1443)GAT>CAT	5	5			central_nervous_system(1)	1	Broad	syntaxin binding protein 2 isoform a			7711219		0.677	ENSG00000076944	15119	g.chr19:7711219G>C	leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding							4.438103	KEEP	0	2	-1	5	10	0	2	-1	6.636312	5	10	0.125	1	0	0	0	0	1	0	0	0	--	--		0	C			STXBP2_uc002mhb.3_Missense_Mutation_p.D478H|STXBP2_uc010dvj.2_RNA|STXBP2_uc010xjr.1_Missense_Mutation_p.D492H|STXBP2_uc010dvk.2_Missense_Mutation_p.D449H|STXBP2_uc002mhc.3_Intron|STXBP2_uc002mhe.1_Missense_Mutation_p.D109H	42	GBM-06-0189-TP	p.D481H	G	GGTCATCAAGGATGTAATGGA	NM_006949	NP_008880	7711219	Q15833	STXB2_HUMAN	0			16	1486	+	C	C			Missense_Mutation	481						
STXBP2	6813	broad.mit.edu	GRCh37	19	7707328	7707328	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01	TCGA-06-2567-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221283.5:c.808G>A	p.Gly270Arg	p.G270R	ENST00000221283	NM_006949.3	270	Ggg/Agg	0			1			A	G/R	uc002mha.3	protein_coding	YES	CCDS12181.1			808/1782									central_nervous_system(1)	1	c.(808-810)GGG>AGG			hmmpanther:PTHR11679,hmmpanther:PTHR11679:SF27,Gene3D:3.90.830.10,Pfam_domain:PF00995,PIRSF_domain:PIRSF005715,Superfamily_domains:SSF56815	syntaxin binding protein 2 isoform a				ENSP00000221283		19-Oct									COSM3404781	19-Oct	.		ENST00000221283	Transcript	1		leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding	ENSG00000076944	g.chr19:7707328G>A	11445			MODERATE		2.62	medium	getma.org/?cm=msa&ty=f&p=STXB2_HUMAN&rb=28&re=580&var=G270R	getma.org/pdb.php?prot=STXB2_HUMAN&from=28&to=580&var=G270R	getma.org/?cm=var&var=hg19,19,7707328,G,A&fts=all	G270R	--	--	1																																		STXBP2_uc002mhb.3_Missense_Mutation_p.G267R|STXBP2_uc010dvj.2_RNA|STXBP2_uc010xjr.1_Missense_Mutation_p.G281R|STXBP2_uc010dvk.2_Missense_Mutation_p.G238R|STXBP2_uc002mhc.3_Missense_Mutation_p.G38R|STXBP2_uc002mhe.1_5'Flank	1	1		probably_damaging(0.999)	p.G270R	NM_006949	NP_008880		deleterious(0)	1	STXB2_HUMAN	STXBP2	HGNC	Q15833	STXB2_HUMAN			R4GMY7_HUMAN,M0QZ54_HUMAN		10	853	+			UPI000013C7B8	270					SNV	STXBP2,missense_variant,p.Gly281Arg,ENST00000441779,NM_001272034.1;STXBP2,missense_variant,p.Gly270Arg,ENST00000221283,NM_006949.3;STXBP2,missense_variant,p.Gly267Arg,ENST00000414284,NM_001127396.2;STXBP2,upstream_gene_variant,,ENST00000600702,;STXBP2,upstream_gene_variant,,ENST00000602355,;STXBP2,downstream_gene_variant,,ENST00000595950,;STXBP2,downstream_gene_variant,,ENST00000593535,;STXBP2,missense_variant,p.Gly270Arg,ENST00000597068,;STXBP2,3_prime_UTR_variant,,ENST00000599737,;CTD-3214H19.4,3_prime_UTR_variant,,ENST00000598664,;STXBP2,non_coding_transcript_exon_variant,,ENST00000594221,;STXBP2,non_coding_transcript_exon_variant,,ENST00000595861,;STXBP2,upstream_gene_variant,,ENST00000595800,;STXBP2,downstream_gene_variant,,ENST00000597467,;STXBP2,upstream_gene_variant,,ENST00000599400,;CTD-3214H19.4,downstream_gene_variant,,ENST00000595866,;STXBP2,upstream_gene_variant,,ENST00000601061,;STXBP2,upstream_gene_variant,,ENST00000593854,;STXBP2,downstream_gene_variant,,ENST00000595181,;STXBP2,downstream_gene_variant,,ENST00000599905,;CTD-3214H19.4,downstream_gene_variant,,ENST00000599243,;STXBP2,downstream_gene_variant,,ENST00000599648,;STXBP2,upstream_gene_variant,,ENST00000599558,;STXBP2,upstream_gene_variant,,ENST00000599278,;	uc002mha.3	c.808G>A	839/1876	1	1			c.808G>A						19	SNP	c.(808-810)GGG>AGG	64	64			central_nervous_system(1)	1	Broad	syntaxin binding protein 2 isoform a			7707328		0.632	ENSG00000076944	15119	g.chr19:7707328G>A	leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding							-8.21372	KEEP	13	5	-1	136	142	13	5	-1	39.51363	136	142	0.068548	1	0	0	0	0	1	0	0	0	--	--		0	A			STXBP2_uc002mhb.3_Missense_Mutation_p.G267R|STXBP2_uc010dvj.2_RNA|STXBP2_uc010xjr.1_Missense_Mutation_p.G281R|STXBP2_uc010dvk.2_Missense_Mutation_p.G238R|STXBP2_uc002mhc.3_Missense_Mutation_p.G38R|STXBP2_uc002mhe.1_5'Flank	89	GBM-06-2567-TP	p.G270R	G	TGAGACCACCGGGCTGAGCGA	NM_006949	NP_008880	7707328	Q15833	STXB2_HUMAN	0			10	853	+	A	A			Missense_Mutation	270						
STXBP4	0	broad.mit.edu	GRCh37	17	53237217	53237217	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-3915-01	TCGA-41-3915-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376352.2:c.1607G>A	p.Arg536His	p.R536H	ENST00000376352	NM_178509.5	536	cGc/cAc	0			1			A	R/H	uc002iuf.1	protein_coding	YES	CCDS11584.2			1607/1662									ovary(1)	1	c.(1606-1608)CGC>CAC			hmmpanther:PTHR19964,hmmpanther:PTHR19964:SF16	syntaxin binding protein 4				ENSP00000365530		18/18	3.29E-05					1.50E-05		0.000182	rs774093883,COSM3403024	18/18	.		ENST00000376352	Transcript				cytoplasm	calcium ion binding	ENSG00000166263	g.chr17:53237217G>A	19694			MODERATE		0.205	neutral	getma.org/?cm=msa&ty=f&p=STXB4_HUMAN&rb=498&re=553&var=R536H	getma.org/pdb.php?prot=STXB4_HUMAN&from=528&to=553&var=R536H	getma.org/?cm=var&var=hg19,17,53237217,G,A&fts=all	R536H	--	--	1																																		STXBP4_uc010dcd.1_Missense_Mutation_p.R514H	0,1	1		benign(0.075)	p.R536H	NM_178509	NP_848604		deleterious(0.05)	0,1	STXB4_HUMAN	STXBP4	HGNC	Q6ZWJ1	STXB4_HUMAN					18	1814	+			UPI000050D3EE	536					SNV	STXBP4,missense_variant,p.Arg536His,ENST00000376352,NM_178509.5;STXBP4,missense_variant,p.Arg514His,ENST00000434978,;	uc002iuf.1	c.1607G>A	1814/6243	1	1			c.1607G>A						17	SNP	c.(1606-1608)CGC>CAC	56	56			ovary(1)	1	Broad	syntaxin binding protein 4			53237217		0.438	ENSG00000166263	15121	g.chr17:53237217G>A		cytoplasm	calcium ion binding							27.891166	KEEP	7	14	-1	56	69	7	14	-1	42.52151	56	69	0.142857	1	0	0	0	0	1	0	0	0	--	--		0	A			STXBP4_uc010dcd.1_Missense_Mutation_p.R514H	256	GBM-41-3915-TP	p.R536H	G	AATCTATCTCGCTCAGAGGAG	NM_178509	NP_848604	53237217	Q6ZWJ1	STXB4_HUMAN	0			18	1814	+	A	A			Missense_Mutation	536						
STXBP5	0	broad.mit.edu	GRCh37	6	147704054	147704054	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-4925-01	TCGA-76-4925-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321680.6:c.3334G>C	p.Gly1112Arg	p.G1112R	ENST00000321680	NM_001127715.2	1112	Ggg/Cgg	0			1			C	G/R	uc003qlz.2	protein_coding	YES	CCDS47499.1			3334/3456										0	c.(3334-3336)GGG>CGG			Superfamily_domains:SSF58038,Gene3D:1.20.5.110,hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF22,PROSITE_profiles:PS50892	syntaxin binding protein 5 (tomosyn) isoform b				ENSP00000321826		27/28									COSM2157471,COSM2157470	27/28	.		ENST00000321680	Transcript			exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	ENSG00000164506	g.chr6:147704054G>C	19665			MODERATE		2.85	medium	getma.org/?cm=msa&ty=f&p=STXB5_HUMAN&rb=1086&re=1146&var=G1112R	getma.org/pdb.php?prot=STXB5_HUMAN&from=1086&to=1146&var=G1112R	getma.org/?cm=var&var=hg19,6,147704054,G,C&fts=all	G1112R	--	--	1																																		STXBP5_uc010khz.1_Missense_Mutation_p.G1076R|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.G767R	1,1	1		probably_damaging(0.948)	p.G1112R	NM_001127715	NP_001121187		deleterious(0)	1,1	STXB5_HUMAN	STXBP5	HGNC	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)			27	3495	+		Ovarian(120;0.0164)	UPI0000199FE0	1112			v-SNARE coiled-coil homology.		SNV	STXBP5,missense_variant,p.Gly1076Arg,ENST00000367481,NM_139244.4;STXBP5,missense_variant,p.Gly767Arg,ENST00000179882,;STXBP5,missense_variant,p.Gly1112Arg,ENST00000321680,NM_001127715.2;STXBP5,missense_variant,p.Gly1059Arg,ENST00000367480,;RP11-361F15.2,upstream_gene_variant,,ENST00000443556,;	uc003qlz.2	c.3334G>C	3334/3456	3	3			c.3334G>C						6	SNP	c.(3334-3336)GGG>CGG	15	15				0	Broad	syntaxin binding protein 5 (tomosyn) isoform b			147704054		0.483	ENSG00000164506	15122	g.chr6:147704054G>C	exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding							224.492596	KEEP	45	36	-1	64	57	45	36	-1	226.124717	64	57	0.402062	1	0	0	0	0	1	0	0	0	--	--		0	C			STXBP5_uc010khz.1_Missense_Mutation_p.G1076R|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.G767R	265	GBM-76-4925-TP	p.G1112R	G	AGATGAAAGAGGGCAGAAACT	NM_001127715	NP_001121187	147704054	Q5T5C0	STXB5_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	27	3495	+	C	C		Ovarian(120;0.0164)	Missense_Mutation	1112			v-SNARE coiled-coil homology.			
STXBP5L	9515	broad.mit.edu	GRCh37	3	121126274	121126274	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0157-01	TCGA-06-0157-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273666.6:c.2844G>C	p.Gln948His	p.Q948H	ENST00000273666	NM_014980.2	948	caG/caC	0			1			C	Q/H	uc003eec.3	protein_coding	YES	CCDS43137.1			2844/3561									ovary(7)|skin(2)	9	c.(2842-2844)CAG>CAC			hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF19,Pfam_domain:PF08596,Superfamily_domains:SSF50978	syntaxin binding protein 5-like				ENSP00000273666		24/28									COSM3408159	24/28	.		ENST00000273666	Transcript			exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		ENSG00000145087	g.chr3:121126274G>C	30757			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=STB5L_HUMAN&rb=813&re=1071&var=Q948H	NA	getma.org/?cm=var&var=hg19,3,121126274,G,C&fts=all	Q948H	--	--	1																																		STXBP5L_uc011bji.1_Missense_Mutation_p.Q924H	1	1		benign(0.044)	p.Q948H	NM_014980	NP_055795		tolerated(0.13)	1	STB5L_HUMAN	STXBP5L	HGNC	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	C9JUZ7_HUMAN		24	2984	+			UPI00001C1DEA	948			WD 12.		SNV	STXBP5L,missense_variant,p.Gln948His,ENST00000273666,NM_014980.2;STXBP5L,missense_variant,p.Gln924His,ENST00000471454,;STXBP5L,missense_variant,p.Gln891His,ENST00000471262,;STXBP5L,missense_variant,p.Gln948His,ENST00000492541,;STXBP5L,missense_variant,p.Gln924His,ENST00000472879,;STXBP5L,missense_variant,p.Gln922His,ENST00000497029,;	uc003eec.3	c.2844G>C	3115/9496	3	3			c.2844G>C						3	SNP	c.(2842-2844)CAG>CAC	2	2			ovary(7)|skin(2)	9	Broad	syntaxin binding protein 5-like			121126274		0.378	ENSG00000145087	15123	g.chr3:121126274G>C	exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane								-23.890552	KEEP	2	1	-1	63	75	2	1	-1	7.008292	63	75	0.02439	1	0	0	0	0	1	0	0	0	--	--		0	C			STXBP5L_uc011bji.1_Missense_Mutation_p.Q924H	28	GBM-06-0157-TP	p.Q948H	G	GAGATCATCAGTATACAATAA	NM_014980	NP_055795	121126274	Q9Y2K9	STB5L_HUMAN	0		GBM - Glioblastoma multiforme(114;0.0694)	24	2984	+	C	C			Missense_Mutation	948			WD 12.			
STXBP5L	0	broad.mit.edu	GRCh37	3	120833881	120833881	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-26-5139-01	TCGA-26-5139-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273666.6:c.580A>G	p.Ile194Val	p.I194V	ENST00000273666	NM_014980.2	194	Atc/Gtc	0			1			G	I/V	uc003eec.3	protein_coding	YES	CCDS43137.1			580/3561									ovary(7)|skin(2)	9	c.(580-582)ATC>GTC			PROSITE_profiles:PS50294,hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF19,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	syntaxin binding protein 5-like				ENSP00000273666		28-Jun	8.28E-06			0.000117					rs761722902,COSM2157164	28-Jun	.		ENST00000273666	Transcript			exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		ENSG00000145087	g.chr3:120833881A>G	30757			MODERATE		2.36	medium	getma.org/?cm=msa&ty=f&p=STB5L_HUMAN&rb=1&re=200&var=I194V	NA	getma.org/?cm=var&var=hg19,3,120833881,A,G&fts=all	I194V	--	--	1																																		STXBP5L_uc011bji.1_Missense_Mutation_p.I194V	0,1	1		benign(0.014)	p.I194V	NM_014980	NP_055795		deleterious(0.04)	0,1	STB5L_HUMAN	STXBP5L	HGNC	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	C9JUZ7_HUMAN		6	720	+			UPI00001C1DEA	194			WD 3.		SNV	STXBP5L,missense_variant,p.Ile194Val,ENST00000273666,NM_014980.2;STXBP5L,missense_variant,p.Ile194Val,ENST00000471454,;STXBP5L,missense_variant,p.Ile194Val,ENST00000471262,;STXBP5L,missense_variant,p.Ile194Val,ENST00000492541,;STXBP5L,missense_variant,p.Ile194Val,ENST00000472879,;STXBP5L,missense_variant,p.Ile194Val,ENST00000497029,;STXBP5L,3_prime_UTR_variant,,ENST00000461772,;	uc003eec.3	c.580A>G	851/9496	3	3			c.580A>G						3	SNP	c.(580-582)ATC>GTC	58	58			ovary(7)|skin(2)	9	Broad	syntaxin binding protein 5-like			120833881		0.318	ENSG00000145087	15123	g.chr3:120833881A>G	exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane								211.02312	KEEP	27	39	-1	55	70	27	39	-1	214.39596	55	70	0.349112	1	0	0	0	0	1	0	0	0	--	--		0	G			STXBP5L_uc011bji.1_Missense_Mutation_p.I194V	186	GBM-26-5139-TP	p.I194V	A	TGGATATGTTATCATGTGGAA	NM_014980	NP_055795	120833881	Q9Y2K9	STB5L_HUMAN	0		GBM - Glioblastoma multiforme(114;0.0694)	6	720	+	G	G			Missense_Mutation	194			WD 3.			
STXBP5L	0	broad.mit.edu	GRCh37	3	120957900	120957900	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5207-01	TCGA-28-5207-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273666.6:c.1267C>T	p.Pro423Ser	p.P423S	ENST00000273666	NM_014980.2	423	Ccg/Tcg	0			1			T	P/S	uc003eec.3	protein_coding	YES	CCDS43137.1			1267/3561									ovary(7)|skin(2)	9	c.(1267-1269)CCG>TCG			hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF19,Pfam_domain:PF00400,SMART_domains:SM00320	syntaxin binding protein 5-like				ENSP00000273666		13/28									COSM2157336	13/28	.		ENST00000273666	Transcript			exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		ENSG00000145087	g.chr3:120957900C>T	30757			MODERATE		-0.375	neutral	getma.org/?cm=msa&ty=f&p=STB5L_HUMAN&rb=403&re=477&var=P423S	NA	getma.org/?cm=var&var=hg19,3,120957900,C,T&fts=all	P423S	--	--	1																																		STXBP5L_uc011bji.1_Missense_Mutation_p.P423S	1	1		probably_damaging(0.986)	p.P423S	NM_014980	NP_055795		tolerated(1)	1	STB5L_HUMAN	STXBP5L	HGNC	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	C9JUZ7_HUMAN		13	1407	+			UPI00001C1DEA	423			WD 8.		SNV	STXBP5L,missense_variant,p.Pro423Ser,ENST00000273666,NM_014980.2;STXBP5L,missense_variant,p.Pro423Ser,ENST00000471454,;STXBP5L,missense_variant,p.Pro423Ser,ENST00000471262,;STXBP5L,missense_variant,p.Pro423Ser,ENST00000492541,;STXBP5L,missense_variant,p.Pro423Ser,ENST00000472879,;STXBP5L,missense_variant,p.Pro423Ser,ENST00000497029,;	uc003eec.3	c.1267C>T	1538/9496	2	2			c.1267C>T						3	SNP	c.(1267-1269)CCG>TCG	29	29			ovary(7)|skin(2)	9	Broad	syntaxin binding protein 5-like			120957900		0.308	ENSG00000145087	15123	g.chr3:120957900C>T	exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane								116.766032	KEEP	21	25	-1	36	42	21	25	-1	119.002261	36	42	0.350877	1	0	0	0	0	1	0	0	0	--	--		0	T			STXBP5L_uc011bji.1_Missense_Mutation_p.P423S	216	GBM-28-5207-TP	p.P423S	C	AGATTGTCCTCCGGATTTGAT	NM_014980	NP_055795	120957900	Q9Y2K9	STB5L_HUMAN	0		GBM - Glioblastoma multiforme(114;0.0694)	13	1407	+	T	T			Missense_Mutation	423			WD 8.			
STXBP5L	0	broad.mit.edu	GRCh37	3	120764376	120764376	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01	TCGA-32-1970-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273666.6:c.464G>A	p.Arg155Gln	p.R155Q	ENST00000273666	NM_014980.2	155	cGg/cAg	0		A:0.0008	1	A:0		A	R/Q	uc003eec.3	protein_coding	YES	CCDS43137.1			464/3561									ovary(7)|skin(2)	9	c.(463-465)CGG>CAG			PROSITE_profiles:PS50294,hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF19,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	syntaxin binding protein 5-like		A:0		ENSP00000273666	A:0	28-May	4.97E-05	0.000204				3.00E-05		0.000122	rs200925938,COSM3408155	28-May	.		ENST00000273666	Transcript		A:0.0002	exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		ENSG00000145087	g.chr3:120764376G>A	30757			MODERATE		2.42	medium	getma.org/?cm=msa&ty=f&p=STB5L_HUMAN&rb=1&re=200&var=R155Q	getma.org/pdb.php?prot=STB5L_HUMAN&from=1&to=200&var=R155Q	getma.org/?cm=var&var=hg19,3,120764376,G,A&fts=all	R155Q	--	--	1																																		STXBP5L_uc011bji.1_Missense_Mutation_p.R155Q	0,1	1		benign(0.356)	p.R155Q	NM_014980	NP_055795	A:0	deleterious(0)	0,1	STB5L_HUMAN	STXBP5L	HGNC	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	C9JUZ7_HUMAN		5	604	+			UPI00001C1DEA	155					SNV	STXBP5L,missense_variant,p.Arg155Gln,ENST00000273666,NM_014980.2;STXBP5L,missense_variant,p.Arg155Gln,ENST00000471454,;STXBP5L,missense_variant,p.Arg155Gln,ENST00000471262,;STXBP5L,missense_variant,p.Arg155Gln,ENST00000492541,;STXBP5L,missense_variant,p.Arg155Gln,ENST00000472879,;STXBP5L,missense_variant,p.Arg155Gln,ENST00000497029,;STXBP5L,downstream_gene_variant,,ENST00000495504,;MIR5682,upstream_gene_variant,,ENST00000584864,;STXBP5L,3_prime_UTR_variant,,ENST00000461772,;	uc003eec.3	c.464G>A	735/9496	1	1			c.464G>A						3	SNP	c.(463-465)CGG>CAG	55	55			ovary(7)|skin(2)	9	Broad	syntaxin binding protein 5-like			120764376		0.358	ENSG00000145087	15123	g.chr3:120764376G>A	exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane								228.209875	KEEP	39	68	-1	74	85	39	68	-1	230.800736	74	85	0.374332	1	0	0	0	0	1	0	0	0	--	--		0	A			STXBP5L_uc011bji.1_Missense_Mutation_p.R155Q	228	GBM-32-1970-TP	p.R155Q	G	AAATTTAACCGGGAACGGTAA	NM_014980	NP_055795	120764376	Q9Y2K9	STB5L_HUMAN	0		GBM - Glioblastoma multiforme(114;0.0694)	5	604	+	A	A			Missense_Mutation	155						
STXBP5L	0	broad.mit.edu	GRCh37	3	120871386	120871386	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-32-4209-01	TCGA-32-4209-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273666.6:c.732A>G	p.Glu244=	p.E244=	ENST00000273666	NM_014980.2	244	gaA/gaG	0			1			G	E	uc003eec.3	protein_coding	YES	CCDS43137.1			732/3561									ovary(7)|skin(2)	9	c.(730-732)GAA>GAG			PROSITE_profiles:PS50294,hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF19,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	syntaxin binding protein 5-like				ENSP00000273666		28-Aug									COSM3408156	28-Aug	.		ENST00000273666	Transcript			exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		ENSG00000145087	g.chr3:120871386A>G	30757			LOW								--	--	1																																		STXBP5L_uc011bji.1_Silent_p.E244E	1	1			p.E244E	NM_014980	NP_055795			1	STB5L_HUMAN	STXBP5L	HGNC	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	C9JUZ7_HUMAN		8	872	+			UPI00001C1DEA	244			WD 4.		SNV	STXBP5L,synonymous_variant,p.=,ENST00000273666,NM_014980.2;STXBP5L,synonymous_variant,p.=,ENST00000471454,;STXBP5L,synonymous_variant,p.=,ENST00000471262,;STXBP5L,synonymous_variant,p.=,ENST00000492541,;STXBP5L,synonymous_variant,p.=,ENST00000472879,;STXBP5L,synonymous_variant,p.=,ENST00000497029,;STXBP5L,3_prime_UTR_variant,,ENST00000461772,;	uc003eec.3	c.732A>G	1003/9496	3	3			c.732A>G						3	SNP	c.(730-732)GAA>GAG	1	1			ovary(7)|skin(2)	9	Broad	syntaxin binding protein 5-like			120871386		0.333	ENSG00000145087	15123	g.chr3:120871386A>G	exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane								279.152191	KEEP	46	50	-1	105	123	46	50	-1	289.452689	105	123	0.296029	1	0	0	0	0	0	0	1	0	--	--		0	G			STXBP5L_uc011bji.1_Silent_p.E244E	244	GBM-32-4209-TP	p.E244E	A	AAAGAGCAGAACTGAGAGTTT	NM_014980	NP_055795	120871386	Q9Y2K9	STB5L_HUMAN	0		GBM - Glioblastoma multiforme(114;0.0694)	8	872	+	G	G			Silent	244			WD 4.			
STXBP5L	0	broad.mit.edu	GRCh37	3	120976169	120976169	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-81-5910-01	TCGA-81-5910-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273666.6:c.1821T>G	p.Ile607Met	p.I607M	ENST00000273666	NM_014980.2	607	atT/atG	0			1			G	I/M	uc003eec.3	protein_coding	YES	CCDS43137.1			1821/3561									ovary(7)|skin(2)	9	c.(1819-1821)ATT>ATG			hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF19	syntaxin binding protein 5-like				ENSP00000273666		17/28									COSM3408158	17/28	.		ENST00000273666	Transcript			exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		ENSG00000145087	g.chr3:120976169T>G	30757			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=STB5L_HUMAN&rb=478&re=677&var=I607M	NA	getma.org/?cm=var&var=hg19,3,120976169,T,G&fts=all	I607M	--	--	1																																		STXBP5L_uc011bji.1_Missense_Mutation_p.I607M	1	1		possibly_damaging(0.864)	p.I607M	NM_014980	NP_055795		tolerated(0.17)	1	STB5L_HUMAN	STXBP5L	HGNC	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	C9JUZ7_HUMAN		17	1961	+			UPI00001C1DEA	607			WD 9.		SNV	STXBP5L,missense_variant,p.Ile607Met,ENST00000273666,NM_014980.2;STXBP5L,missense_variant,p.Ile607Met,ENST00000471454,;STXBP5L,missense_variant,p.Ile607Met,ENST00000471262,;STXBP5L,missense_variant,p.Ile607Met,ENST00000492541,;STXBP5L,missense_variant,p.Ile607Met,ENST00000472879,;STXBP5L,missense_variant,p.Ile607Met,ENST00000497029,;	uc003eec.3	c.1821T>G	2092/9496	3	3			c.1821T>G						3	SNP	c.(1819-1821)ATT>ATG	50	50			ovary(7)|skin(2)	9	Broad	syntaxin binding protein 5-like			120976169		0.368	ENSG00000145087	15123	g.chr3:120976169T>G	exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane								111.746653	KEEP	21	16	-1	31	43	21	16	-1	114.056474	31	43	0.336735	1	0	0	0	0	1	0	0	0	--	--		0	G			STXBP5L_uc011bji.1_Missense_Mutation_p.I607M	289	GBM-81-5910-TP	p.I607M	T	AGGACAGTATTCCATGCCTCA	NM_014980	NP_055795	120976169	Q9Y2K9	STB5L_HUMAN	0		GBM - Glioblastoma multiforme(114;0.0694)	17	1961	+	G	G			Missense_Mutation	607			WD 9.			
STYK1	55359	broad.mit.edu	GRCh37	12	10772903	10772903	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5408-01	TCGA-06-5408-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000075503.3:c.1109G>A	p.Arg370His	p.R370H	ENST00000075503	NM_018423.2	370	cGc/cAc	0		T:0	1	T:0		T	R/H	uc001qys.2	protein_coding	YES	CCDS8629.1			1109/1269									central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8	c.(1108-1110)CGC>CAC			PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF216,Gene3D:1.10.510.10,Pfam_domain:PF07714,Superfamily_domains:SSF56112,Prints_domain:PR00109	serine/threonine/tyrosine kinase 1		T:0.001		ENSP00000075503	T:0	11-Nov	3.29E-05					4.50E-05		6.06E-05	rs554694983,COSM1945323	11-Nov	.		ENST00000075503	Transcript		T:0.0002		integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity	ENSG00000060140	g.chr12:10772903C>T	18889			MODERATE		4.19	high	getma.org/?cm=msa&ty=f&p=STYK1_HUMAN&rb=114&re=380&var=R370H	getma.org/pdb.php?prot=STYK1_HUMAN&from=114&to=380&var=R370H	getma.org/?cm=var&var=hg19,12,10772903,C,T&fts=all	R370H	--	--	1				HNSCC(73;0.22)																															0,1	1		probably_damaging(1)	p.R370H	NM_018423	NP_060893	T:0	deleterious(0)	0,1	STYK1_HUMAN	STYK1	HGNC	Q6J9G0	STYK1_HUMAN			F5H4G3_HUMAN,F5H366_HUMAN,F5H2I9_HUMAN		11	1630	-			UPI000013C57C	370			Protein kinase.		SNV	STYK1,missense_variant,p.Arg370His,ENST00000075503,NM_018423.2;	uc001qys.2	c.1109G>A	1630/2995	2	2			c.1109G>A						12	SNP	c.(1108-1110)CGC>CAC	17	17			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8	Broad	serine/threonine/tyrosine kinase 1			10772903		0.527	ENSG00000060140	15125	g.chr12:10772903C>T		integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			211			211	287.935117	KEEP	52	67	-1	111	112	52	67	-1	293.812584	111	112	0.349153	1	0	0	0	0	1	0	0	0	--	--	HNSCC(73;0.22)	0	T				92	GBM-06-5408-TP	p.R370H	C	AGGTGAGGGGCGGTCAGCCTC	NM_018423	NP_060893	10772903	Q6J9G0	STYK1_HUMAN	0			11	1630	-	T	T			Missense_Mutation	370			Protein kinase.			
STYX	0	broad.mit.edu	GRCh37	14	53217446	53217446	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-27-2518-01	TCGA-27-2518-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354586.4:c.190C>T	p.Arg64Ter	p.R64*	ENST00000354586	NM_145251.3	64	Cga/Tga	0			1			T	R/*	uc010tqy.1	protein_coding	YES	CCDS9711.1			190/672										0	c.(190-192)CGA>TGA			Superfamily_domains:SSF52799,SMART_domains:SM00195,Pfam_domain:PF00782,Gene3D:3.90.190.10,hmmpanther:PTHR10159:SF26,hmmpanther:PTHR10159,PROSITE_profiles:PS50054	serine/threonine/tyrosine interacting protein				ENSP00000346599		11-Apr									COSM3401354	11-Apr	.		ENST00000354586	Transcript			protein dephosphorylation|spermatogenesis	cytoplasm	protein tyrosine/serine/threonine phosphatase activity	ENSG00000198252	g.chr14:53217446C>T	11447			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,14,53217446,C,T&fts=all	R64*	--	--	1																																		STYX_uc001xaa.2_Nonsense_Mutation_p.R64*	1	1			p.R64*	NM_001130701	NP_001124173			1	STYX_HUMAN	STYX	HGNC	Q8WUJ0	STYX_HUMAN					5	252	+	Breast(41;0.176)		UPI00000434EF	64					SNV	STYX,stop_gained,p.Arg64Ter,ENST00000354586,NM_145251.3;STYX,stop_gained,p.Arg64Ter,ENST00000442123,NM_001130701.1;STYX,intron_variant,,ENST00000556861,;	uc010tqy.1	c.190C>T	483/4857	5	1			c.190C>T						14	SNP	c.(190-192)CGA>TGA	7	7				0	Broad	serine/threonine/tyrosine interacting protein			53217446		0.289	ENSG00000198252	15126	g.chr14:53217446C>T	protein dephosphorylation|spermatogenesis	cytoplasm	protein tyrosine/serine/threonine phosphatase activity							-7.002667	KEEP	8	8	-1	113	121	8	8	-1	31.429622	113	121	0.069652	1	0	0	0	0	0	1	0	0	--	--		0	T			STYX_uc001xaa.2_Nonsense_Mutation_p.R64*	198	GBM-27-2518-TP	p.R64*	C	AATATGCATACGACAAAATAT	NM_001130701	NP_001124173	53217446	Q8WUJ0	STYX_HUMAN	0			5	252	+	T	T	Breast(41;0.176)		Nonsense_Mutation	64						
SUCLA2	0	broad.mit.edu	GRCh37	13	48571116	48571116	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378654.3:c.133G>A	p.Val45Ile	p.V45I	ENST00000378654	NM_003850.2	45	Gta/Ata	0			1			T	V/I	uc001vbs.2	protein_coding	YES	CCDS9406.1			133/1392									central_nervous_system(1)	1	c.(133-135)GTA>ATA			hmmpanther:PTHR11815,hmmpanther:PTHR11815:SF3,Low_complexity_(Seg):seg	succinate-CoA ligase, ADP-forming, beta subunit	Succinic acid(DB00139)			ENSP00000367923		11-Feb									COSM3399389	11-Feb	.		ENST00000378654	Transcript	1		succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	ENSG00000136143	g.chr13:48571116C>T	11448			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=SUCB1_HUMAN&rb=1&re=53&var=V45I	NA	getma.org/?cm=var&var=hg19,13,48571116,C,T&fts=all	V45I	--	--	1																																		SUCLA2_uc010tgb.1_5'UTR|SUCLA2_uc010tgc.1_5'UTR|SUCLA2_uc010tgd.1_5'UTR|SUCLA2_uc001vbt.1_RNA|SUCLA2_uc001vbu.1_Missense_Mutation_p.V45I	1	1		benign(0.001)	p.V45I	NM_003850	NP_003841		tolerated(0.27)	1	SUCB1_HUMAN	SUCLA2	HGNC	Q9P2R7	SUCB1_HUMAN		GBM - Glioblastoma multiforme(144;2.1e-06)	E5KS60_HUMAN,Q9Y4T0_HUMAN,F5H5G8_HUMAN,F5GXC8_HUMAN		2	190	-		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	UPI000013CFEB	45					SNV	SUCLA2,missense_variant,p.Val45Ile,ENST00000378654,NM_003850.2;SUCLA2,5_prime_UTR_variant,,ENST00000544100,;SUCLA2,5_prime_UTR_variant,,ENST00000543413,;SUCLA2,5_prime_UTR_variant,,ENST00000534875,;SUCLA2,intron_variant,,ENST00000434484,;SUCLA2,intron_variant,,ENST00000433022,;SUCLA2-AS1,upstream_gene_variant,,ENST00000423869,;SUCLA2,non_coding_transcript_exon_variant,,ENST00000497202,;SUCLA2,non_coding_transcript_exon_variant,,ENST00000470760,;	uc001vbs.2	c.133G>A	190/2164	2	2			c.133G>A						13	SNP	c.(133-135)GTA>ATA	42	42			central_nervous_system(1)	1	Broad	succinate-CoA ligase, ADP-forming, beta subunit		Succinic acid(DB00139)	48571116		0.403	ENSG00000136143	15129	g.chr13:48571116C>T	succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity							217.175966	KEEP	40	41	-1	53	54	40	41	-1	217.901214	53	54	0.427673	1	0	0	0	0	1	0	0	0	--	--		0	T			SUCLA2_uc010tgb.1_5'UTR|SUCLA2_uc010tgc.1_5'UTR|SUCLA2_uc010tgd.1_5'UTR|SUCLA2_uc001vbt.1_RNA|SUCLA2_uc001vbu.1_Missense_Mutation_p.V45I	218	GBM-28-5209-TP	p.V45I	C	TGCTGCTGTACTTGGAGTCCA	NM_003850	NP_003841	48571116	Q9P2R7	SUCB1_HUMAN	0		GBM - Glioblastoma multiforme(144;2.1e-06)	2	190	-	T	T		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	Missense_Mutation	45						
SUCLG1	0	broad.mit.edu	GRCh37	2	84652596	84652596	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-5222-01	TCGA-32-5222-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393868.2:c.957G>T	p.Gln319His	p.Q319H	ENST00000393868	NM_003849.3	319	caG/caT	0			1			A	Q/H	uc002son.2	protein_coding	YES	CCDS1967.2			957/1041										0	c.(955-957)CAG>CAT			hmmpanther:PTHR11117,TIGRFAM_domain:TIGR01019,Pfam_domain:PF00549,Gene3D:3.40.50.261,PIRSF_domain:PIRSF001553,Superfamily_domains:SSF52210	succinate-CoA ligase, GDP-forming alpha subunit	Succinic acid(DB00139)			ENSP00000377446		9-Aug									COSM3408007	9-Aug	.		ENST00000393868	Transcript	1		tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity	ENSG00000163541	g.chr2:84652596C>A	11449			MODERATE		1.465	low	getma.org/?cm=msa&ty=f&p=SUCA_HUMAN&rb=199&re=324&var=Q319H	getma.org/pdb.php?prot=SUCA_HUMAN&from=199&to=324&var=Q319H	getma.org/?cm=var&var=hg19,2,84652596,C,A&fts=all	Q319H	--	--	1																																			1	1		benign(0.016)	p.Q319H	NM_003849	NP_003840		deleterious(0)	1	SUCA_HUMAN	SUCLG1	HGNC	P53597	SUCA_HUMAN			Q6IAL5_HUMAN		8	1150	-			UPI000014BF59	319					SNV	SUCLG1,missense_variant,p.Gln319His,ENST00000393868,NM_003849.3;SUCLG1,non_coding_transcript_exon_variant,,ENST00000491123,;SUCLG1,non_coding_transcript_exon_variant,,ENST00000484365,;SUCLG1,non_coding_transcript_exon_variant,,ENST00000487809,;	uc002son.2	c.957G>T	1168/1475	1	1			c.957G>T						2	SNP	c.(955-957)CAG>CAT	51	51				0	Broad	succinate-CoA ligase, GDP-forming alpha subunit		Succinic acid(DB00139)	84652596		0.532	ENSG00000163541	15130	g.chr2:84652596C>A	tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity	Ovarian(48;203 1101 37206 40305 50790)			Ovarian(48;203 1101 37206 40305 50790)			373.133136	KEEP	61	75	0.551470588	90	101	61	75	0.551470588	374.93719	90	101	0.419048	1	0	0	0	0	1	0	0	0	--	--		0	A				249	GBM-32-5222-TP	p.Q319H	C	CTCCTGCACTCTGAAGGGCAG	NM_003849	NP_003840	84652596	P53597	SUCA_HUMAN	0			8	1150	-	A	A			Missense_Mutation	319						
SUCLG1	0	broad.mit.edu	GRCh37	2	84676841	84676841	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393868.2:c.133G>A	p.Ala45Thr	p.A45T	ENST00000393868	NM_003849.3	45	Gct/Act	0			1			T	A/T	uc002son.2	protein_coding	YES	CCDS1967.2			133/1041										0	c.(133-135)GCT>ACT			hmmpanther:PTHR11117,PIRSF_domain:PIRSF001553,Superfamily_domains:SSF51735	succinate-CoA ligase, GDP-forming alpha subunit	Succinic acid(DB00139)			ENSP00000377446		9-Feb									COSM2157459	9-Feb	.		ENST00000393868	Transcript	1		tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity	ENSG00000163541	g.chr2:84676841C>T	11449			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=SUCA_HUMAN&rb=1&re=52&var=A45T	NA	getma.org/?cm=var&var=hg19,2,84676841,C,T&fts=all	A45T	--	--	1																																		SUCLG1_uc010ysk.1_Missense_Mutation_p.A32T	1	1		benign(0.003)	p.A45T	NM_003849	NP_003840		tolerated_low_confidence(0.21)	1	SUCA_HUMAN	SUCLG1	HGNC	P53597	SUCA_HUMAN			Q6IAL5_HUMAN		2	326	-			UPI000014BF59	45					SNV	SUCLG1,missense_variant,p.Ala45Thr,ENST00000393868,NM_003849.3;SUCLG1,non_coding_transcript_exon_variant,,ENST00000491642,;SUCLG1,non_coding_transcript_exon_variant,,ENST00000483605,;SUCLG1,non_coding_transcript_exon_variant,,ENST00000430989,;SUCLG1,missense_variant,p.Ala43Thr,ENST00000442240,;	uc002son.2	c.133G>A	344/1475	1	1			c.133G>A						2	SNP	c.(133-135)GCT>ACT	7	7				0	Broad	succinate-CoA ligase, GDP-forming alpha subunit		Succinic acid(DB00139)	84676841		0.299	ENSG00000163541	15130	g.chr2:84676841C>T	tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity	Ovarian(48;203 1101 37206 40305 50790)			Ovarian(48;203 1101 37206 40305 50790)			131.724674	KEEP	33	18	-1	36	43	33	18	-1	132.807714	36	43	0.392523	1	0	0	0	0	1	0	0	0	--	--		0	T			SUCLG1_uc010ysk.1_Missense_Mutation_p.A32T	265	GBM-76-4925-TP	p.A45T	C	TGCCGAGAAGCTGTGTAGGAA	NM_003849	NP_003840	84676841	P53597	SUCA_HUMAN	0			2	326	-	T	T			Missense_Mutation	45						
SUCLG2	0	broad.mit.edu	GRCh37	3	67570993	67570993	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-32-2638-01	TCGA-32-2638-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307227.5:c.483C>G	p.Ser161=	p.S161=	ENST00000307227	NM_003848.3	161	tcC/tcG	0			1			C	S	uc003dna.3	protein_coding		CCDS43104.1			483/1299									central_nervous_system(1)|skin(1)	2	c.(481-483)TCC>TCG			Superfamily_domains:SSF56059,PIRSF_domain:PIRSF001554,Pfam_domain:PF08442,Gene3D:3.30.470.20,TIGRFAM_domain:TIGR01016,hmmpanther:PTHR11815	succinate-CoA ligase, GDP-forming beta subunit	Succinic acid(DB00139)			ENSP00000307432		11-May									COSM3408865,COSM3408864,COSM3408863	11-May	.		ENST00000307227	Transcript			succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity	ENSG00000172340	g.chr3:67570993G>C	11450			LOW								--	--	1																																		SUCLG2_uc010hob.2_Silent_p.S42S	1,1,1				p.S161S	NM_003848	NP_003839			1,1,1	SUCB2_HUMAN	SUCLG2	HGNC	Q96I99	SUCB2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Q3ZCW5_HUMAN		5	511	-		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)	UPI0000209977	161			ATP-grasp.		SNV	SUCLG2,synonymous_variant,p.=,ENST00000307227,NM_003848.3;SUCLG2,synonymous_variant,p.=,ENST00000460567,;SUCLG2,synonymous_variant,p.=,ENST00000493112,NM_001177599.1;SUCLG2,synonymous_variant,p.=,ENST00000492795,;	uc003dna.3	c.483C>G	511/2352	3	3			c.483C>G						3	SNP	c.(481-483)TCC>TCG	59	59			central_nervous_system(1)|skin(1)	2	Broad	succinate-CoA ligase, GDP-forming beta subunit		Succinic acid(DB00139)	67570993		0.502	ENSG00000172340	15131	g.chr3:67570993G>C	succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity							-20.045676	KEEP	1	8	-1	95	81	1	8	-1	15.451132	95	81	0.04878	1	0	0	0	0	0	0	1	0	--	--		0	C			SUCLG2_uc010hob.2_Silent_p.S42S	242	GBM-32-2638-TP	p.S161S	G	GGCCATTGCAGGACCGGTCCA	NM_003848	NP_003839	67570993	Q96I99	SUCB2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	5	511	-	C	C		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)	Silent	161			ATP-grasp.			
SUDS3	0	broad.mit.edu	GRCh37	12	118841310	118841310	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-26-5132-01	TCGA-26-5132-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000543473.1:c.791A>G	p.Tyr264Cys	p.Y264C	ENST00000543473	NM_022491.2	264	tAt/tGt	0			1			G	Y/C	uc001twz.2	protein_coding	YES	CCDS44993.1			791/987										0	c.(790-792)TAT>TGT			hmmpanther:PTHR21964,hmmpanther:PTHR21964:SF11	suppressor of defective silencing 3				ENSP00000443988		12-Oct									COSM3398418,COSM3398417,COSM3398416	12-Oct	.		ENST00000543473	Transcript			chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding	ENSG00000111707	g.chr12:118841310A>G	29545			MODERATE		2.395	medium	getma.org/?cm=msa&ty=f&p=SDS3_HUMAN&rb=224&re=328&var=Y264C	NA	getma.org/?cm=var&var=hg19,12,118841310,A,G&fts=all	Y264C	--	--	1																																			1,1,1	1		possibly_damaging(0.541)	p.Y264C	NM_022491	NP_071936		deleterious(0)	1,1,1	SDS3_HUMAN	SUDS3	HGNC	Q9H7L9	SDS3_HUMAN			Q52LB7_HUMAN,Q2M2F3_HUMAN		10	930	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		UPI00001C1F43	264					SNV	SUDS3,missense_variant,p.Tyr264Cys,ENST00000543473,NM_022491.2;SUDS3,missense_variant,p.Tyr265Cys,ENST00000397564,;SUDS3,non_coding_transcript_exon_variant,,ENST00000541280,;SUDS3,non_coding_transcript_exon_variant,,ENST00000541591,;SUDS3,non_coding_transcript_exon_variant,,ENST00000360286,;	uc001twz.2	c.791A>G	1103/4897	3	3			c.791A>G						12	SNP	c.(790-792)TAT>TGT	6	6				0	Broad	suppressor of defective silencing 3			118841310		0.483	ENSG00000111707	15133	g.chr12:118841310A>G	chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding							56.696927	KEEP	12	6	-1	13	7	12	6	-1	56.793486	13	7	0.444444	1	0	0	0	0	1	0	0	0	--	--		0	G				181	GBM-26-5132-TP	p.Y264C	A	AAACTGTACTATGACAAAAGA	NM_022491	NP_071936	118841310	Q9H7L9	SDS3_HUMAN	0			10	930	+	G	G	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		Missense_Mutation	264						
SUFU	51684		GRCh37	10	104353785	104353785	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000369902.3:c.722del	p.Gly241GlufsTer26	p.G241Efs*26	ENST00000369902	NM_016169.3	240	aGg/ag	0																																																																																																																																																																																																																																												
SUGCT	79783	broad.mit.edu	GRCh37	7	40228112	40228112	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01	TCGA-06-0649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309930.5:c.266G>A	p.Arg89Gln	p.R89Q	ENST00000309930	NM_024728.2	89	cGa/cAa	0	C:0		1			A	R/Q	uc003thn.1	protein_coding		CCDS55105.1			266/1338									ovary(2)	2	c.(244-246)CGA>CAA			Gene3D:3.40.50.10540,hmmpanther:PTHR11837,hmmpanther:PTHR11837:SF6,Superfamily_domains:SSF89796	dermal papilla derived protein 13			C:0.0004	ENSP00000338475		14-Apr	1.66E-05					1.56E-05		6.55E-05	rs200690632,COSM3229629,COSM3229628	14-Apr	.		ENST00000335693	Transcript	1				transferase activity	ENSG00000175600	g.chr7:40228112G>A	16001			MODERATE		2.35	medium	getma.org/?cm=msa&ty=f&p=CG010_HUMAN&rb=1&re=112&var=R89Q	getma.org/pdb.php?prot=CG010_HUMAN&from=1&to=112&var=R89Q	getma.org/?cm=var&var=hg19,7,40228112,G,A&fts=all	R89Q	--	--	1																																		C7orf10_uc003thm.1_Missense_Mutation_p.R89Q|C7orf10_uc003tho.1_Missense_Mutation_p.R82Q	0,1,1			probably_damaging(1)	p.R82Q	NM_024728	NP_079004		deleterious(0)	0,1,1	SUCHY_HUMAN	SUGCT	HGNC	Q9HAC7	CG010_HUMAN			Q9Y6U8_HUMAN,Q75MS9_HUMAN,Q75MI5_HUMAN,B4DJF0_HUMAN		4	290	+			UPI0000551BCD	89					SNV	SUGCT,missense_variant,p.Arg89Gln,ENST00000309930,NM_024728.2,NM_001193311.1;SUGCT,missense_variant,p.Arg89Gln,ENST00000335693,NM_001193313.1;SUGCT,missense_variant,p.Arg84Gln,ENST00000416370,;SUGCT,missense_variant,p.Arg89Gln,ENST00000401647,NM_001193312.1;SUGCT,missense_variant,p.Arg82Gln,ENST00000540834,;SUGCT,missense_variant,p.Arg101Gln,ENST00000413931,;SUGCT,3_prime_UTR_variant,,ENST00000444074,;	uc003thn.1	c.245G>A	289/1645	2	2			c.245G>A						7	SNP	c.(244-246)CGA>CAA	32	32			ovary(2)	2	Broad	dermal papilla derived protein 13			40228112		0.279	ENSG00000175600	2327	g.chr7:40228112G>A			transferase activity							7.317979	KEEP	3	4	-1	19	27	3	4	-1	13.671985	19	27	0.12766	1	0	0	0	0	1	0	0	0	--	--		0	A			C7orf10_uc003thm.1_Missense_Mutation_p.R89Q|C7orf10_uc003tho.1_Missense_Mutation_p.R82Q	62	GBM-06-0649-TP	p.R82Q	G	GATGATACACGAACTTGGGGG	NM_024728	NP_079004	40228112	Q9HAC7	CG010_HUMAN	0			4	290	+	A	A			Missense_Mutation	89						
SUGCT	79783	broad.mit.edu	GRCh37	7	40356417	40356417	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01	TCGA-06-0939-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309930.5:c.800G>A	p.Arg267His	p.R267H	ENST00000309930	NM_024728.2	267	cGt/cAt	0		A:0	1	A:0		A	R/H	uc003thn.1	protein_coding		CCDS55105.1			800/1338									ovary(2)	2	c.(778-780)CGT>CAT			Gene3D:3.30.1540.10,Pfam_domain:PF02515,hmmpanther:PTHR11837,hmmpanther:PTHR11837:SF6,Superfamily_domains:SSF89796	dermal papilla derived protein 13		A:0.001		ENSP00000338475	A:0	14-Sep	1.66E-05		0.000618						rs192547523,COSM3412037,COSM3412036	14-Sep	common_variant		ENST00000335693	Transcript	1	A:0.0002			transferase activity	ENSG00000175600	g.chr7:40356417G>A	16001			MODERATE		3.785	high	getma.org/?cm=msa&ty=f&p=CG010_HUMAN&rb=113&re=301&var=R267H	getma.org/pdb.php?prot=CG010_HUMAN&from=113&to=301&var=R267H	getma.org/?cm=var&var=hg19,7,40356417,G,A&fts=all	R267H	--	--	1																																		C7orf10_uc003thm.1_Missense_Mutation_p.R230H|C7orf10_uc003tho.1_Missense_Mutation_p.R212H	0,1,1			probably_damaging(0.999)	p.R260H	NM_024728	NP_079004	A:0	deleterious(0)	0,1,1	SUCHY_HUMAN	SUGCT	HGNC	Q9HAC7	CG010_HUMAN			Q9Y6U8_HUMAN,Q75MS9_HUMAN,Q75MI5_HUMAN,B4DJF0_HUMAN		9	824	+			UPI0000551BCD	267					SNV	SUGCT,missense_variant,p.Arg267His,ENST00000309930,NM_024728.2,NM_001193311.1;SUGCT,missense_variant,p.Arg267His,ENST00000335693,NM_001193313.1;SUGCT,missense_variant,p.Arg262His,ENST00000416370,;SUGCT,missense_variant,p.Arg219His,ENST00000401647,NM_001193312.1;SUGCT,non_coding_transcript_exon_variant,,ENST00000488110,;	uc003thn.1	c.779G>A	823/1645	1	1			c.779G>A						7	SNP	c.(778-780)CGT>CAT	52	52			ovary(2)	2	Broad	dermal papilla derived protein 13			40356417		0.388	ENSG00000175600	2327	g.chr7:40356417G>A			transferase activity							6.581337	KEEP	3	2	-1	18	14	3	2	-1	9.791097	18	14	0.148148	1	0	0	0	0	1	0	0	0	--	--		0	A			C7orf10_uc003thm.1_Missense_Mutation_p.R230H|C7orf10_uc003tho.1_Missense_Mutation_p.R212H	78	GBM-06-0939-TP	p.R260H	G	GAAGCAAAACGTTGGGGTACA	NM_024728	NP_079004	40356417	Q9HAC7	CG010_HUMAN	0			9	824	+	A	A			Missense_Mutation	267						
SULF1	0	broad.mit.edu	GRCh37	8	70536309	70536309	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260128.4:c.1727G>A	p.Arg576His	p.R576H	ENST00000260128	NM_015170.2	576	cGt/cAt	0			1			A	R/H	uc010lza.1	protein_coding	YES	CCDS6204.1			1727/2616									central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	c.(1726-1728)CGT>CAT			hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF210,Pfam_domain:PF12548,PIRSF_domain:PIRSF036665	sulfatase 1 precursor				ENSP00000260128		15/23	0.000148	0.000289	0.000173			7.51E-05		0.000487	rs758690728,COSM3413099	15/23	common_variant		ENST00000260128	Transcript			apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	ENSG00000137573	g.chr8:70536309G>A	20391			MODERATE		2.51	medium	getma.org/?cm=msa&ty=f&p=SULF1_HUMAN&rb=533&re=680&var=R576H	NA	getma.org/?cm=var&var=hg19,8,70536309,G,A&fts=all	R576H	--	--	1																																		SULF1_uc003xyd.2_Missense_Mutation_p.R576H|SULF1_uc003xye.2_Missense_Mutation_p.R576H|SULF1_uc003xyf.2_Missense_Mutation_p.R576H|SULF1_uc003xyg.2_Missense_Mutation_p.R576H|SULF1_uc003xyh.1_RNA	0,1	1		benign(0.133)	p.R576H	NM_015170	NP_055985		deleterious(0.03)	0,1	SULF1_HUMAN	SULF1	HGNC	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		Q96E28_HUMAN,E9PS14_HUMAN,E9PPQ3_HUMAN,E9PLS5_HUMAN,E9PJL8_HUMAN,E9PI06_HUMAN		15	2444	+	Breast(64;0.0654)		UPI000003FD82	576					SNV	SULF1,missense_variant,p.Arg576His,ENST00000260128,NM_015170.2;SULF1,missense_variant,p.Arg576His,ENST00000458141,NM_001128204.1;SULF1,missense_variant,p.Arg576His,ENST00000402687,NM_001128205.1;SULF1,missense_variant,p.Arg576His,ENST00000419716,NM_001128206.1;SULF1,non_coding_transcript_exon_variant,,ENST00000521946,;SULF1,upstream_gene_variant,,ENST00000524731,;SULF1,upstream_gene_variant,,ENST00000531512,;	uc010lza.1	c.1727G>A	2444/5710	2	2			c.1727G>A						8	SNP	c.(1726-1728)CGT>CAT	34	34			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Broad	sulfatase 1 precursor			70536309		0.498	ENSG00000137573	15136	g.chr8:70536309G>A	apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			473			473	-12.377059	KEEP	2	2	-1	44	50	2	2	-1	7.888395	44	50	0.043956	1	0	0	0	0	1	0	0	0	--	--		0	A			SULF1_uc003xyd.2_Missense_Mutation_p.R576H|SULF1_uc003xye.2_Missense_Mutation_p.R576H|SULF1_uc003xyf.2_Missense_Mutation_p.R576H|SULF1_uc003xyg.2_Missense_Mutation_p.R576H|SULF1_uc003xyh.1_RNA	139	GBM-14-0817-TP	p.R576H	G	ATTGCTAAGCGTCATGATGAA	NM_015170	NP_055985	70536309	Q8IWU6	SULF1_HUMAN	0	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		15	2444	+	A	A	Breast(64;0.0654)		Missense_Mutation	576						
SULF1	0	broad.mit.edu	GRCh37	8	70488235	70488235	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-14-1456-01	TCGA-14-1456-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260128.4:c.203A>C	p.Lys68Thr	p.K68T	ENST00000260128	NM_015170.2	68	aAg/aCg	0			1			C	K/T	uc010lza.1	protein_coding	YES	CCDS6204.1			203/2616									central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	c.(202-204)AAG>ACG			hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF210,Gene3D:3.40.720.10,Pfam_domain:PF00884,PIRSF_domain:PIRSF036665,Superfamily_domains:SSF53649	sulfatase 1 precursor				ENSP00000260128		23-Jun	8.24E-06					1.53E-05			rs767772359,COSM3413097	23-Jun	.		ENST00000260128	Transcript			apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	ENSG00000137573	g.chr8:70488235A>C	20391			MODERATE		1.265	low	getma.org/?cm=msa&ty=f&p=SULF1_HUMAN&rb=43&re=521&var=K68T	getma.org/pdb.php?prot=SULF1_HUMAN&from=43&to=521&var=K68T	getma.org/?cm=var&var=hg19,8,70488235,A,C&fts=all	K68T	--	--	1																																		SULF1_uc003xyd.2_Missense_Mutation_p.K68T|SULF1_uc003xye.2_Missense_Mutation_p.K68T|SULF1_uc003xyf.2_Missense_Mutation_p.K68T|SULF1_uc003xyg.2_Missense_Mutation_p.K68T	0,1	1		benign(0.088)	p.K68T	NM_015170	NP_055985		deleterious(0.02)	0,1	SULF1_HUMAN	SULF1	HGNC	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		Q96E28_HUMAN,E9PS14_HUMAN,E9PPQ3_HUMAN,E9PLS5_HUMAN,E9PJL8_HUMAN,E9PI06_HUMAN		6	920	+	Breast(64;0.0654)		UPI000003FD82	68					SNV	SULF1,missense_variant,p.Lys68Thr,ENST00000260128,NM_015170.2;SULF1,missense_variant,p.Lys68Thr,ENST00000458141,NM_001128204.1;SULF1,missense_variant,p.Lys68Thr,ENST00000402687,NM_001128205.1;SULF1,missense_variant,p.Lys68Thr,ENST00000419716,NM_001128206.1;SULF1,missense_variant,p.Lys68Thr,ENST00000525999,;SULF1,missense_variant,p.Lys68Thr,ENST00000529134,;SULF1,missense_variant,p.Lys68Thr,ENST00000528783,;SULF1,non_coding_transcript_exon_variant,,ENST00000531064,;SULF1,non_coding_transcript_exon_variant,,ENST00000526808,;	uc010lza.1	c.203A>C	920/5710	3	3			c.203A>C						8	SNP	c.(202-204)AAG>ACG	61	61			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Broad	sulfatase 1 precursor			70488235		0.517	ENSG00000137573	15136	g.chr8:70488235A>C	apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			473			473	30.333101	KEEP	5	9	-1	28	27	5	9	-1	35.98328	28	27	0.19697	1	0	0	0	0	1	0	0	0	--	--		0	C			SULF1_uc003xyd.2_Missense_Mutation_p.K68T|SULF1_uc003xye.2_Missense_Mutation_p.K68T|SULF1_uc003xyf.2_Missense_Mutation_p.K68T|SULF1_uc003xyg.2_Missense_Mutation_p.K68T	146	GBM-14-1456-TP	p.K68T	A	AAAACGAGAAAGATTATGGAA	NM_015170	NP_055985	70488235	Q8IWU6	SULF1_HUMAN	0	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		6	920	+	C	C	Breast(64;0.0654)		Missense_Mutation	68						
SULF1	0	broad.mit.edu	GRCh37	8	70512942	70512942	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01	TCGA-41-4097-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260128.4:c.839G>A	p.Arg280His	p.R280H	ENST00000260128	NM_015170.2	280	cGc/cAc	0			1			A	R/H	uc010lza.1	protein_coding	YES	CCDS6204.1			839/2616									central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	c.(838-840)CGC>CAC			hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF210,Gene3D:3.40.720.10,Pfam_domain:PF00884,PIRSF_domain:PIRSF036665,Superfamily_domains:SSF53649	sulfatase 1 precursor				ENSP00000260128		23-Sep	8.24E-06		8.64E-05						rs775591702,COSM3413098	23-Sep	.		ENST00000260128	Transcript			apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	ENSG00000137573	g.chr8:70512942G>A	20391			MODERATE		2.62	medium	getma.org/?cm=msa&ty=f&p=SULF1_HUMAN&rb=43&re=521&var=R280H	getma.org/pdb.php?prot=SULF1_HUMAN&from=43&to=521&var=R280H	getma.org/?cm=var&var=hg19,8,70512942,G,A&fts=all	R280H	--	--	1																																		SULF1_uc003xyd.2_Missense_Mutation_p.R280H|SULF1_uc003xye.2_Missense_Mutation_p.R280H|SULF1_uc003xyf.2_Missense_Mutation_p.R280H|SULF1_uc003xyg.2_Missense_Mutation_p.R280H|SULF1_uc003xyh.1_RNA	0,1	1		probably_damaging(0.994)	p.R280H	NM_015170	NP_055985		deleterious(0)	0,1	SULF1_HUMAN	SULF1	HGNC	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		Q96E28_HUMAN,E9PS14_HUMAN,E9PPQ3_HUMAN,E9PLS5_HUMAN,E9PJL8_HUMAN,E9PI06_HUMAN		9	1556	+	Breast(64;0.0654)		UPI000003FD82	280					SNV	SULF1,missense_variant,p.Arg280His,ENST00000260128,NM_015170.2;SULF1,missense_variant,p.Arg280His,ENST00000458141,NM_001128204.1;SULF1,missense_variant,p.Arg280His,ENST00000402687,NM_001128205.1;SULF1,missense_variant,p.Arg280His,ENST00000419716,NM_001128206.1;SULF1,non_coding_transcript_exon_variant,,ENST00000521946,;SULF1,downstream_gene_variant,,ENST00000534088,;SULF1,downstream_gene_variant,,ENST00000528146,;	uc010lza.1	c.839G>A	1556/5710	2	2			c.839G>A						8	SNP	c.(838-840)CGC>CAC	33	33			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Broad	sulfatase 1 precursor			70512942		0.433	ENSG00000137573	15136	g.chr8:70512942G>A	apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			473			473	-60.170383	KEEP	0	5	-1	155	157	0	5	-1	8.24712	155	157	0.019011	1	0	0	0	0	1	0	0	0	--	--		0	A			SULF1_uc003xyd.2_Missense_Mutation_p.R280H|SULF1_uc003xye.2_Missense_Mutation_p.R280H|SULF1_uc003xyf.2_Missense_Mutation_p.R280H|SULF1_uc003xyg.2_Missense_Mutation_p.R280H|SULF1_uc003xyh.1_RNA	257	GBM-41-4097-TP	p.R280H	G	ATTCTACAGCGCAAAAGGCTC	NM_015170	NP_055985	70512942	Q8IWU6	SULF1_HUMAN	0	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		9	1556	+	A	A	Breast(64;0.0654)		Missense_Mutation	280						
SULF2	55959	broad.mit.edu	GRCh37	20	46307466	46307466	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0128-01	TCGA-06-0128-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359930.4:c.1147G>A	p.Gly383Arg	p.G383R	ENST00000359930	NM_018837.3	383	Ggg/Agg	0			1			T	G/R	uc002xto.2	protein_coding	YES	CCDS13408.1			1147/2613									ovary(2)|breast(2)|pancreas(1)|skin(1)	6	c.(1147-1149)GGG>AGG			hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF67,Gene3D:3.40.720.10,PIRSF_domain:PIRSF036665,Superfamily_domains:SSF53649	sulfatase 2 isoform a precursor				ENSP00000353007		21-Aug									COSM2149470	21-Aug	.		ENST00000359930	Transcript			bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	ENSG00000196562	g.chr20:46307466C>T	20392			MODERATE		4.425	high	getma.org/?cm=msa&ty=f&p=SULF2_HUMAN&rb=44&re=497&var=G383R	getma.org/pdb.php?prot=SULF2_HUMAN&from=44&to=497&var=G383R	getma.org/?cm=var&var=hg19,20,46307466,C,T&fts=all	G383R	--	--	1																																		SULF2_uc002xtr.2_Missense_Mutation_p.G383R|SULF2_uc002xtq.2_Missense_Mutation_p.G383R	1	1		probably_damaging(0.918)	p.G383R	NM_018837	NP_061325		deleterious(0.01)	1	SULF2_HUMAN	SULF2	HGNC	Q8IWU5	SULF2_HUMAN			Q5BKT1_HUMAN,B1AMP9_HUMAN		8	1477	-			UPI000003FFBA	383					SNV	SULF2,missense_variant,p.Gly383Arg,ENST00000359930,NM_018837.3;SULF2,missense_variant,p.Gly383Arg,ENST00000484875,NM_198596.2,NM_001161841.1;SULF2,missense_variant,p.Gly383Arg,ENST00000361612,;SULF2,missense_variant,p.Gly383Arg,ENST00000467815,;CTD-2653D5.1,non_coding_transcript_exon_variant,,ENST00000526566,;SULF2,upstream_gene_variant,,ENST00000465769,;	uc002xto.2	c.1147G>A	1999/4915	2	2			c.1147G>A						20	SNP	c.(1147-1149)GGG>AGG	36	36			ovary(2)|breast(2)|pancreas(1)|skin(1)	6	Broad	sulfatase 2 isoform a precursor			46307466		0.617	ENSG00000196562	15137	g.chr20:46307466C>T	bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			709			709	292.118941	KEEP	54	51	-1	62	76	54	51	-1	292.335227	62	76	0.464286	1	0	0	0	0	1	0	0	0	--	--		0	T			SULF2_uc002xtr.2_Missense_Mutation_p.G383R|SULF2_uc002xtq.2_Missense_Mutation_p.G383R	14	GBM-06-0128-TP	p.G383R	C	ATGGATTTCCCGTCCATATCC	NM_018837	NP_061325	46307466	Q8IWU5	SULF2_HUMAN	0			8	1477	-	T	T			Missense_Mutation	383						
SULF2	55959	broad.mit.edu	GRCh37	20	46318884	46318884	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-1804-01	TCGA-06-1804-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359930.4:c.723C>T	p.Asn241=	p.N241=	ENST00000359930	NM_018837.3	241	aaC/aaT	0			1			A	N	uc002xto.2	protein_coding	YES	CCDS13408.1			723/2613									ovary(2)|breast(2)|pancreas(1)|skin(1)	6	c.(721-723)AAC>AAT			hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF67,Pfam_domain:PF00884,PIRSF_domain:PIRSF036665,Superfamily_domains:SSF53649	sulfatase 2 isoform a precursor				ENSP00000353007		21-May	7.42E-05		0.000174			9.37E-05		0.000105	rs762972808,COSM3295127	21-May	.		ENST00000359930	Transcript			bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	ENSG00000196562	g.chr20:46318884G>A	20392			LOW								--	--	1																																		SULF2_uc002xtr.2_Silent_p.N241N|SULF2_uc002xtq.2_Silent_p.N241N|SULF2_uc010ghv.1_Silent_p.N241N	0,1	1			p.N241N	NM_018837	NP_061325			0,1	SULF2_HUMAN	SULF2	HGNC	Q8IWU5	SULF2_HUMAN			Q5BKT1_HUMAN,B1AMP9_HUMAN		5	1053	-			UPI000003FFBA	241					SNV	SULF2,synonymous_variant,p.=,ENST00000359930,NM_018837.3;SULF2,synonymous_variant,p.=,ENST00000484875,NM_198596.2,NM_001161841.1;SULF2,synonymous_variant,p.=,ENST00000361612,;SULF2,synonymous_variant,p.=,ENST00000467815,;CTD-2653D5.1,downstream_gene_variant,,ENST00000526566,;SULF2,intron_variant,,ENST00000474450,;SULF2,non_coding_transcript_exon_variant,,ENST00000463221,;	uc002xto.2	c.723C>T	1575/4915	2	2			c.723C>T						20	SNP	c.(721-723)AAC>AAT	41	41			ovary(2)|breast(2)|pancreas(1)|skin(1)	6	Broad	sulfatase 2 isoform a precursor			46318884		0.567	ENSG00000196562	15137	g.chr20:46318884G>A	bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding		p.N241N(U138MG-Tumor)	709		p.N241N(U138MG-Tumor)	709	92.211156	KEEP	18	22	-1	26	25	18	22	-1	92.774281	26	25	0.407895	1	0	0	0	0	0	0	1	0	--	--		0	A			SULF2_uc002xtr.2_Silent_p.N241N|SULF2_uc002xtq.2_Silent_p.N241N|SULF2_uc010ghv.1_Silent_p.N241N	79	GBM-06-1804-TP	p.N241N	G	GCTGAGATGCGTTTGGGAAGA	NM_018837	NP_061325	46318884	Q8IWU5	SULF2_HUMAN	0			5	1053	-	A	A			Silent	241						
SULF2	0	broad.mit.edu	GRCh37	20	46292214	46292214	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1833-01	TCGA-27-1833-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359930.4:c.2210C>T	p.Thr737Met	p.T737M	ENST00000359930	NM_018837.3	737	aCg/aTg	0			1			A	T/M	uc002xto.2	protein_coding	YES	CCDS13408.1			2210/2613									ovary(2)|breast(2)|pancreas(1)|skin(1)	6	c.(2209-2211)ACG>ATG			hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF67,PIRSF_domain:PIRSF036665,Superfamily_domains:SSF53649	sulfatase 2 isoform a precursor				ENSP00000353007		16/21	1.65E-05			0.000116		1.50E-05			rs760782481,COSM3405166	16/21	.		ENST00000359930	Transcript			bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	ENSG00000196562	g.chr20:46292214G>A	20392			MODERATE		2.92	medium	getma.org/?cm=msa&ty=f&p=SULF2_HUMAN&rb=666&re=865&var=T737M	NA	getma.org/?cm=var&var=hg19,20,46292214,G,A&fts=all	T737M	--	--	1																																OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	SULF2_uc002xtr.2_Missense_Mutation_p.T737M|SULF2_uc002xtq.2_Missense_Mutation_p.T737M|SULF2_uc010zyd.1_Missense_Mutation_p.T16M	0,1	1		probably_damaging(0.973)	p.T737M	NM_018837	NP_061325		deleterious(0)	0,1	SULF2_HUMAN	SULF2	HGNC	Q8IWU5	SULF2_HUMAN			Q5BKT1_HUMAN,B1AMP9_HUMAN		16	2540	-			UPI000003FFBA	737					SNV	SULF2,missense_variant,p.Thr737Met,ENST00000359930,NM_018837.3;SULF2,missense_variant,p.Thr737Met,ENST00000484875,NM_198596.2,NM_001161841.1;SULF2,missense_variant,p.Thr737Met,ENST00000361612,;SULF2,missense_variant,p.Thr737Met,ENST00000467815,;SULF2,missense_variant,p.Thr92Met,ENST00000495544,;SULF2,non_coding_transcript_exon_variant,,ENST00000433632,;SULF2,upstream_gene_variant,,ENST00000479970,;	uc002xto.2	c.2210C>T	3062/4915	2	2			c.2210C>T						20	SNP	c.(2209-2211)ACG>ATG	47	47			ovary(2)|breast(2)|pancreas(1)|skin(1)	6	Broad	sulfatase 2 isoform a precursor			46292214		0.597	ENSG00000196562	15137	g.chr20:46292214G>A	bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			709			709	233.361921	KEEP	60	45	-1	119	123	60	45	-1	242.695514	119	123	0.30742	1	0	0	0	0	1	0	0	0	--	--		0	A	OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	SULF2_uc002xtr.2_Missense_Mutation_p.T737M|SULF2_uc002xtq.2_Missense_Mutation_p.T737M|SULF2_uc010zyd.1_Missense_Mutation_p.T16M	192	GBM-27-1833-TP	p.T737M	G	GAAAGGCGCCGTCTGCCAGTG	NM_018837	NP_061325	46292214	Q8IWU5	SULF2_HUMAN	0			16	2540	-	A	A			Missense_Mutation	737						
SULF2	0	broad.mit.edu	GRCh37	20	46386007	46386007	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01	TCGA-27-2523-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359930.4:c.101G>A	p.Arg34Lys	p.R34K	ENST00000359930	NM_018837.3	34	aGg/aAg	0			1			T	R/K	uc002xto.2	protein_coding	YES	CCDS13408.1			101/2613									ovary(2)|breast(2)|pancreas(1)|skin(1)	6	c.(100-102)AGG>AAG			hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF67,PIRSF_domain:PIRSF036665	sulfatase 2 isoform a precursor				ENSP00000353007		21-Feb									COSM3405167	21-Feb	.		ENST00000359930	Transcript			bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	ENSG00000196562	g.chr20:46386007C>T	20392			MODERATE		2.435	medium	getma.org/?cm=msa&ty=f&p=SULF2_HUMAN&rb=1&re=43&var=R34K	NA	getma.org/?cm=var&var=hg19,20,46386007,C,T&fts=all	R34K	--	--	1																																		SULF2_uc002xtr.2_Missense_Mutation_p.R34K|SULF2_uc002xtq.2_Missense_Mutation_p.R34K|SULF2_uc010ghv.1_Missense_Mutation_p.R34K	1	1		benign(0.217)	p.R34K	NM_018837	NP_061325		deleterious(0.05)	1	SULF2_HUMAN	SULF2	HGNC	Q8IWU5	SULF2_HUMAN			Q5BKT1_HUMAN,B1AMP9_HUMAN		2	431	-			UPI000003FFBA	34					SNV	SULF2,missense_variant,p.Arg34Lys,ENST00000359930,NM_018837.3;SULF2,missense_variant,p.Arg34Lys,ENST00000484875,NM_198596.2,NM_001161841.1;SULF2,missense_variant,p.Arg34Lys,ENST00000361612,;SULF2,missense_variant,p.Arg34Lys,ENST00000467815,;SULF2,missense_variant,p.Arg34Lys,ENST00000437955,;SULF2,non_coding_transcript_exon_variant,,ENST00000474450,;SULF2,non_coding_transcript_exon_variant,,ENST00000463221,;	uc002xto.2	c.101G>A	953/4915	1	1			c.101G>A						20	SNP	c.(100-102)AGG>AAG	7	7			ovary(2)|breast(2)|pancreas(1)|skin(1)	6	Broad	sulfatase 2 isoform a precursor			46386007		0.647	ENSG00000196562	15137	g.chr20:46386007C>T	bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			709			709	20.318597	KEEP	2	6	-1	10	6	2	6	-1	20.608288	10	6	0.368421	1	0	0	0	0	1	0	0	0	--	--		0	T			SULF2_uc002xtr.2_Missense_Mutation_p.R34K|SULF2_uc002xtq.2_Missense_Mutation_p.R34K|SULF2_uc010ghv.1_Missense_Mutation_p.R34K	201	GBM-27-2523-TP	p.R34K	C	CCTCTGAAACCTGCCTTTCAG	NM_018837	NP_061325	46386007	Q8IWU5	SULF2_HUMAN	0			2	431	-	T	T			Missense_Mutation	34						
SULT1B1	27284	broad.mit.edu	GRCh37	4	70596339	70596339	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0155-01	TCGA-06-0155-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310613.3:c.658A>C	p.Ile220Leu	p.I220L	ENST00000310613	NM_014465.3	220	Atc/Ctc	0			1			G	I/L	uc003hen.2	protein_coding	YES	CCDS3530.1			658/891										0	c.(658-660)ATC>CTC			Gene3D:3.40.50.300,Pfam_domain:PF00685,hmmpanther:PTHR11783,hmmpanther:PTHR11783:SF14,Superfamily_domains:SSF52540	sulfotransferase family, cytosolic, 1B, member				ENSP00000308770		8-Jul									COSM2149973	8-Jul	.		ENST00000310613	Transcript			3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		ENSG00000173597	g.chr4:70596339T>G	17845			MODERATE		-0.17	neutral	getma.org/?cm=msa&ty=f&p=ST1B1_HUMAN&rb=38&re=289&var=I220L	getma.org/pdb.php?prot=ST1B1_HUMAN&from=38&to=289&var=I220L	getma.org/?cm=var&var=hg19,4,70596339,T,G&fts=all	I220L	--	--	1																																			1	1		benign(0.003)	p.I220L	NM_014465	NP_055280		tolerated(0.39)	1	ST1B1_HUMAN	SULT1B1	HGNC	O43704	ST1B1_HUMAN			D6RIA8_HUMAN,D6RD70_HUMAN		7	956	-			UPI000006FDD9	220			PAPS (By similarity).		SNV	SULT1B1,missense_variant,p.Ile220Leu,ENST00000310613,NM_014465.3;SULT1B1,downstream_gene_variant,,ENST00000510821,;	uc003hen.2	c.658A>C	956/7115	3	3			c.658A>C						4	SNP	c.(658-660)ATC>CTC	8	8				0	Broad	sulfotransferase family, cytosolic, 1B, member			70596339		0.363	ENSG00000173597	15140	g.chr4:70596339T>G	3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol								114.326542	KEEP	24	12	-1	39	29	24	12	-1	116.124355	39	29	0.354167	1	0	0	0	0	1	0	0	0	--	--		0	G				27	GBM-06-0155-TP	p.I220L	T	CTATCCAAGATCTCATCATTC	NM_014465	NP_055280	70596339	O43704	ST1B1_HUMAN	0			7	956	-	G	G			Missense_Mutation	220			PAPS (By similarity).			
SULT1B1	0	broad.mit.edu	GRCh37	4	70620981	70620981	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C			TCGA-14-1395-01	TCGA-14-1395-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310613.3:c.-44-2A>G		p.X15_splice	ENST00000310613	NM_014465.3			0			1			C		uc003hen.2	protein_coding	YES	CCDS3530.1			-/891										0	c.e2-1				sulfotransferase family, cytosolic, 1B, member				ENSP00000308770													.		ENST00000310613	Transcript			3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		ENSG00000173597	g.chr4:70620981T>C	17845			HIGH	7-Jan							--	--	1																																				1				NM_014465	NP_055280				ST1B1_HUMAN	SULT1B1	HGNC	O43704	ST1B1_HUMAN			D6RIA8_HUMAN,D6RD70_HUMAN		2	255	-			UPI000006FDD9						SNV	SULT1B1,splice_acceptor_variant,,ENST00000310613,NM_014465.3;SULT1B1,splice_acceptor_variant,,ENST00000510821,;SULT1B1,intron_variant,,ENST00000512870,;	uc003hen.2	c.-43_splice	-/7115	5	3			c.-43_splice						4	SNP	c.e2-1	7	7				0	Broad	sulfotransferase family, cytosolic, 1B, member			70620981		0.328	ENSG00000173597	15140	g.chr4:70620981T>C	3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol								75.7598	KEEP	12	9	-1	8	6	12	9	-1	76.062387	8	6	0.6	1	0	0	0	0	0	0	0	1	--	--		0	C				144	GBM-14-1395-TP		T	ACAGTTGTTCTGGAGAAATAT	NM_014465	NP_055280	70620981	O43704	ST1B1_HUMAN	0			2	255	-	C	C			Splice_Site							
SULT1B1	0	broad.mit.edu	GRCh37	4	70596362	70596362	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-27-1830-01	TCGA-27-1830-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310613.3:c.635T>C	p.Leu212Pro	p.L212P	ENST00000310613	NM_014465.3	212	cTa/cCa	0			1			G	L/P	uc003hen.2	protein_coding	YES	CCDS3530.1			635/891										0	c.(634-636)CTA>CCA			Gene3D:3.40.50.300,Pfam_domain:PF00685,hmmpanther:PTHR11783,hmmpanther:PTHR11783:SF14,Superfamily_domains:SSF52540	sulfotransferase family, cytosolic, 1B, member				ENSP00000308770		8-Jul									COSM3409442	8-Jul	.		ENST00000310613	Transcript			3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		ENSG00000173597	g.chr4:70596362A>G	17845			MODERATE		4.18	high	getma.org/?cm=msa&ty=f&p=ST1B1_HUMAN&rb=38&re=289&var=L212P	getma.org/pdb.php?prot=ST1B1_HUMAN&from=38&to=289&var=L212P	getma.org/?cm=var&var=hg19,4,70596362,A,G&fts=all	L212P	--	--	1																																			1	1		probably_damaging(0.999)	p.L212P	NM_014465	NP_055280		deleterious(0)	1	ST1B1_HUMAN	SULT1B1	HGNC	O43704	ST1B1_HUMAN			D6RIA8_HUMAN,D6RD70_HUMAN		7	933	-			UPI000006FDD9	212			PAPS (By similarity).		SNV	SULT1B1,missense_variant,p.Leu212Pro,ENST00000310613,NM_014465.3;SULT1B1,downstream_gene_variant,,ENST00000510821,;	uc003hen.2	c.635T>C	933/7115	3	3			c.635T>C						4	SNP	c.(634-636)CTA>CCA	52	52				0	Broad	sulfotransferase family, cytosolic, 1B, member			70596362		0.338	ENSG00000173597	15140	g.chr4:70596362A>G	3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol								89.835912	KEEP	20	10	-1	26	20	20	10	-1	90.571264	26	20	0.38806	1	0	0	0	0	1	0	0	0	--	--		0	G				189	GBM-27-1830-TP	p.L212P	A	GTTCTTCTCTAGAAATCTAAT	NM_014465	NP_055280	70596362	O43704	ST1B1_HUMAN	0			7	933	-	G	G			Missense_Mutation	212			PAPS (By similarity).			
SULT1B1	0	broad.mit.edu	GRCh37	4	70596383	70596383	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-27-1830-01	TCGA-27-1830-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310613.3:c.614T>G	p.Ile205Ser	p.I205S	ENST00000310613	NM_014465.3	205	aTc/aGc	0			1			C	I/S	uc003hen.2	protein_coding	YES	CCDS3530.1			614/891										0	c.(613-615)ATC>AGC			Gene3D:3.40.50.300,Pfam_domain:PF00685,hmmpanther:PTHR11783,hmmpanther:PTHR11783:SF14,Low_complexity_(Seg):seg,Superfamily_domains:SSF52540	sulfotransferase family, cytosolic, 1B, member				ENSP00000308770		8-Jul									COSM3409443	8-Jul	.		ENST00000310613	Transcript			3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		ENSG00000173597	g.chr4:70596383A>C	17845			MODERATE		3.67	high	getma.org/?cm=msa&ty=f&p=ST1B1_HUMAN&rb=38&re=289&var=I205S	getma.org/pdb.php?prot=ST1B1_HUMAN&from=38&to=289&var=I205S	getma.org/?cm=var&var=hg19,4,70596383,A,C&fts=all	I205S	--	--	1																																			1	1		probably_damaging(0.982)	p.I205S	NM_014465	NP_055280		deleterious(0)	1	ST1B1_HUMAN	SULT1B1	HGNC	O43704	ST1B1_HUMAN			D6RIA8_HUMAN,D6RD70_HUMAN		7	912	-			UPI000006FDD9	205			PAPS (By similarity).		SNV	SULT1B1,missense_variant,p.Ile205Ser,ENST00000310613,NM_014465.3;SULT1B1,downstream_gene_variant,,ENST00000510821,;	uc003hen.2	c.614T>G	912/7115	3	3			c.614T>G						4	SNP	c.(613-615)ATC>AGC	52	52				0	Broad	sulfotransferase family, cytosolic, 1B, member			70596383		0.328	ENSG00000173597	15140	g.chr4:70596383A>C	3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol								71.961551	KEEP	16	6	-1	23	19	16	6	-1	73.150602	23	19	0.35	1	0	0	0	0	1	0	0	0	--	--		0	C				189	GBM-27-1830-TP	p.I205S	A	GATCTTCTTGATTTCCTCCTT	NM_014465	NP_055280	70596383	O43704	ST1B1_HUMAN	0			7	912	-	C	C			Missense_Mutation	205			PAPS (By similarity).			
SULT1B1	0	broad.mit.edu	GRCh37	4	70592883	70592883	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01	TCGA-28-2509-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310613.3:c.814G>A	p.Ala272Thr	p.A272T	ENST00000310613	NM_014465.3	272	Gcc/Acc	0			1			T	A/T	uc003hen.2	protein_coding	YES	CCDS3530.1			814/891										0	c.(814-816)GCC>ACC			Gene3D:3.40.50.300,Pfam_domain:PF00685,hmmpanther:PTHR11783,hmmpanther:PTHR11783:SF14,Superfamily_domains:SSF52540	sulfotransferase family, cytosolic, 1B, member				ENSP00000308770		8-Aug									COSM3409440	8-Aug	.		ENST00000310613	Transcript			3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		ENSG00000173597	g.chr4:70592883C>T	17845			MODERATE		2.605	medium	getma.org/?cm=msa&ty=f&p=ST1B1_HUMAN&rb=38&re=289&var=A272T	getma.org/pdb.php?prot=ST1B1_HUMAN&from=38&to=289&var=A272T	getma.org/?cm=var&var=hg19,4,70592883,C,T&fts=all	A272T	--	--	1																																			1	1		benign(0.217)	p.A272T	NM_014465	NP_055280		deleterious(0.03)	1	ST1B1_HUMAN	SULT1B1	HGNC	O43704	ST1B1_HUMAN			D6RIA8_HUMAN,D6RD70_HUMAN		8	1112	-			UPI000006FDD9	272					SNV	SULT1B1,missense_variant,p.Ala272Thr,ENST00000310613,NM_014465.3;	uc003hen.2	c.814G>A	1112/7115	1	1			c.814G>A						4	SNP	c.(814-816)GCC>ACC	8	8				0	Broad	sulfotransferase family, cytosolic, 1B, member			70592883		0.343	ENSG00000173597	15140	g.chr4:70592883C>T	3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol								50.467769	KEEP	12	15	-1	60	47	12	15	-1	59.282967	60	47	0.207207	1	0	0	0	0	1	0	0	0	--	--		0	T				211	GBM-28-2509-TP	p.A272T	C	TCATTTTGGGCCACGGTGAAG	NM_014465	NP_055280	70592883	O43704	ST1B1_HUMAN	0			8	1112	-	T	T			Missense_Mutation	272						
SULT1B1	0	broad.mit.edu	GRCh37	4	70596318	70596318	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2514-01	TCGA-28-2514-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310613.3:c.679C>T	p.His227Tyr	p.H227Y	ENST00000310613	NM_014465.3	227	Cac/Tac	0	A:0		1			A	H/Y	uc003hen.2	protein_coding	YES	CCDS3530.1			679/891										0	c.(679-681)CAC>TAC			Gene3D:3.40.50.300,Pfam_domain:PF00685,hmmpanther:PTHR11783,hmmpanther:PTHR11783:SF14,Superfamily_domains:SSF52540	sulfotransferase family, cytosolic, 1B, member			A:0.0001	ENSP00000308770		8-Jul									rs374341407,COSM3409441	8-Jul	.		ENST00000310613	Transcript			3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		ENSG00000173597	g.chr4:70596318G>A	17845			MODERATE		2.815	medium	getma.org/?cm=msa&ty=f&p=ST1B1_HUMAN&rb=38&re=289&var=H227Y	getma.org/pdb.php?prot=ST1B1_HUMAN&from=38&to=289&var=H227Y	getma.org/?cm=var&var=hg19,4,70596318,G,A&fts=all	H227Y	--	--	1																																			0,1	1		benign(0.279)	p.H227Y	NM_014465	NP_055280		deleterious(0.04)	0,1	ST1B1_HUMAN	SULT1B1	HGNC	O43704	ST1B1_HUMAN			D6RIA8_HUMAN,D6RD70_HUMAN		7	977	-			UPI000006FDD9	227			PAPS (By similarity).		SNV	SULT1B1,missense_variant,p.His227Tyr,ENST00000310613,NM_014465.3;SULT1B1,downstream_gene_variant,,ENST00000510821,;	uc003hen.2	c.679C>T	977/7115	2	2			c.679C>T						4	SNP	c.(679-681)CAC>TAC	43	43				0	Broad	sulfotransferase family, cytosolic, 1B, member			70596318		0.378	ENSG00000173597	15140	g.chr4:70596318G>A	3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol								167.919951	KEEP	32	27	-1	22	31	32	27	-1	167.952382	22	31	0.518868	1	0	0	0	0	1	0	0	0	--	--		0	A				214	GBM-28-2514-TP	p.H227Y	G	AATGAGGTGTGATGGATGATC	NM_014465	NP_055280	70596318	O43704	ST1B1_HUMAN	0			7	977	-	A	A			Missense_Mutation	227			PAPS (By similarity).			
SULT1C3	0	broad.mit.edu	GRCh37	2	108872031	108872031	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-12-3649-01	TCGA-12-3649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329106.2:c.403G>T	p.Val135Phe	p.V135F	ENST00000329106	NM_001008743.1	135	Gtc/Ttc	0			1			T	V/F	uc010ywo.1	protein_coding	YES	CCDS33267.1			403/915									skin(1)	1	c.(403-405)GTC>TTC			hmmpanther:PTHR11783,hmmpanther:PTHR11783:SF39,Pfam_domain:PF00685,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	sulfotransferase family, cytosolic, 1C, member				ENSP00000333310		7-Apr									COSM3406771,COSM3406772	7-Apr	.		ENST00000329106	Transcript				cytoplasm	alcohol sulfotransferase activity	ENSG00000196228	g.chr2:108872031G>T	33543			MODERATE		1.485	low	getma.org/?cm=msa&ty=f&p=ST1C3_HUMAN&rb=46&re=297&var=V135F	getma.org/pdb.php?prot=ST1C3_HUMAN&from=46&to=297&var=V135F	getma.org/?cm=var&var=hg19,2,108872031,G,T&fts=all	V135F	--	--	1																																			1,1	1		possibly_damaging(0.547)	p.V135F	NM_001008743	NP_001008743		deleterious(0)	1,1	ST1C3_HUMAN	SULT1C3	HGNC	Q6IMI6	ST1C3_HUMAN					4	403	+			UPI000004348F	135					SNV	SULT1C3,missense_variant,p.Val135Phe,ENST00000329106,NM_001008743.1;SULT1C3,missense_variant,p.Val135Phe,ENST00000376700,;	uc010ywo.1	c.403G>T	403/915	2	2			c.403G>T						2	SNP	c.(403-405)GTC>TTC	21	21			skin(1)	1	Broad	sulfotransferase family, cytosolic, 1C, member			108872031		0.413	ENSG00000196228	15142	g.chr2:108872031G>T		cytoplasm	alcohol sulfotransferase activity							167.087688	KEEP	43	19	0.693548387	59	68	43	19	0.693548387	170.532784	59	68	0.34375	1	0	0	0	0	1	0	0	0	--	--		0	T				125	GBM-12-3649-TP	p.V135F	G	ATTTCAGATTGTCTATGTGGC	NM_001008743	NP_001008743	108872031	Q6IMI6	ST1C3_HUMAN	0			4	403	+	T	T			Missense_Mutation	135						
SULT1C4	0	broad.mit.edu	GRCh37	2	108999906	108999906	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-27-1835-01	TCGA-27-1835-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000272452.2:c.555A>T	p.Gly185=	p.G185=	ENST00000272452	NM_006588.2	185	ggA/ggT	0			1			T	G	uc002tea.1	protein_coding	YES	CCDS2077.1			555/909										0	c.(553-555)GGA>GGT			hmmpanther:PTHR11783:SF51,hmmpanther:PTHR11783,Gene3D:3.40.50.300,Pfam_domain:PF00685,Superfamily_domains:SSF52540	sulfotransferase family, cytosolic, 1C, member				ENSP00000272452		7-May									COSM2157223	7-May	.		ENST00000272452	Transcript			3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity	ENSG00000198075	g.chr2:108999906A>T	11457			LOW								--	--	1																																		SULT1C4_uc010ywr.1_RNA|SULT1C4_uc002teb.1_Silent_p.G110G	1	1			p.G185G	NM_006588	NP_006579			1	ST1C4_HUMAN	SULT1C4	HGNC	O75897	ST1C4_HUMAN					5	928	+			UPI000013D958	185					SNV	SULT1C4,synonymous_variant,p.=,ENST00000272452,NM_006588.2;SULT1C4,synonymous_variant,p.=,ENST00000409309,;SULT1C4,downstream_gene_variant,,ENST00000494122,;	uc002tea.1	c.555A>T	881/1860	2	2			c.555A>T						2	SNP	c.(553-555)GGA>GGT	46	46				0	Broad	sulfotransferase family, cytosolic, 1C, member			108999906		0.478	ENSG00000198075	15143	g.chr2:108999906A>T	3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity							97.347294	KEEP	19	20	-1	39	24	19	20	-1	98.0085	39	24	0.404762	1	0	0	0	0	0	0	1	0	--	--		0	T			SULT1C4_uc010ywr.1_RNA|SULT1C4_uc002teb.1_Silent_p.G110G	194	GBM-27-1835-TP	p.G185G	A	ATGTGAAAGGATGGTGGGAAG	NM_006588	NP_006579	108999906	O75897	ST1C4_HUMAN	0			5	928	+	T	T			Silent	185						
SULT2B1	6820		GRCh37	19	49090651	49090651	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000201586.2:c.380C>T	p.Pro127Leu	p.P127L	ENST00000201586	NM_177973.1	127	cCc/cTc	0																																																																																																																																																																																																																																												
SUMF2	0	broad.mit.edu	GRCh37	7	56141892	56141892	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-74-6573-01	TCGA-74-6573-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342190.6:c.425delA	p.Lys142ArgfsTer25	p.K142Rfs*25	ENST00000342190	NM_001130069.2	141	gAa/ga	0			1			-	E/X	uc003trv.2	protein_coding	YES	CCDS47589.1			422/1077									ovary(1)|skin(1)	2	c.(421-423)GAAfs			hmmpanther:PTHR23150,Gene3D:1z70X00,Pfam_domain:PF03781,Superfamily_domains:SSF56436	sulfatase modifying factor 2 isoform e				ENSP00000341938		8-Apr										8-Apr	.		ENST00000342190	Transcript				endoplasmic reticulum lumen	metal ion binding	ENSG00000129103	g.chr7:56141892delA	20415	3		HIGH								--	--	1																																OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	PSPH_uc003trj.2_Intron|SUMF2_uc011kcv.1_RNA|SUMF2_uc011kcw.1_Frame_Shift_Del_p.E141fs|SUMF2_uc011kcx.1_Frame_Shift_Del_p.E141fs|SUMF2_uc003trt.2_Frame_Shift_Del_p.E34fs|SUMF2_uc011kcy.1_Intron|SUMF2_uc011kcz.1_Intron|SUMF2_uc003tru.2_RNA|SUMF2_uc011kda.1_Intron|SUMF2_uc003trx.2_Intron		1			p.E141fs	NM_001130069	NP_001123541					SUMF2	HGNC	Q8NBJ7	SUMF2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		Q75LP3_HUMAN,F8WA42_HUMAN		4	453	+	Breast(14;0.214)		UPI0001AE7021	122					deletion	SUMF2,frameshift_variant,p.Lys142ArgfsTer25,ENST00000434526,NM_015411.2,NM_001042469.1;SUMF2,frameshift_variant,p.Lys35ArgfsTer25,ENST00000275607,NM_001146333.1;SUMF2,frameshift_variant,p.Lys142ArgfsTer25,ENST00000342190,NM_001130069.2;SUMF2,frameshift_variant,p.Lys123ArgfsTer25,ENST00000413756,;SUMF2,frameshift_variant,p.Lys123ArgfsTer25,ENST00000437307,;SUMF2,frameshift_variant,p.Lys140ArgfsTer25,ENST00000451338,;SUMF2,frameshift_variant,p.Lys145ArgfsTer25,ENST00000413952,;SUMF2,intron_variant,,ENST00000395436,;SUMF2,intron_variant,,ENST00000395435,NM_001042470.1;SUMF2,frameshift_variant,p.Lys123ArgfsTer34,ENST00000423763,;SUMF2,frameshift_variant,p.Lys123ArgfsTer52,ENST00000447501,;SUMF2,3_prime_UTR_variant,,ENST00000452216,;SUMF2,non_coding_transcript_exon_variant,,ENST00000498777,;SUMF2,non_coding_transcript_exon_variant,,ENST00000529457,;SUMF2,intron_variant,,ENST00000438133,;SUMF2,intron_variant,,ENST00000436782,;SUMF2,downstream_gene_variant,,ENST00000483327,;SUMF2,upstream_gene_variant,,ENST00000531229,;SUMF2,upstream_gene_variant,,ENST00000461912,;	uc003trv.2	c.422delA	422/1876	5	5			c.422delA						7	DEL	c.(421-423)GAAfs	38	38			ovary(1)|skin(1)	2	Broad	sulfatase modifying factor 2 isoform e			56141892		0.562	ENSG00000129103	15150	g.chr7:56141892delA		endoplasmic reticulum lumen	metal ion binding																				0	1	1	0	1	0	0	0	0	0	--	--		0	-	OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	PSPH_uc003trj.2_Intron|SUMF2_uc011kcv.1_RNA|SUMF2_uc011kcw.1_Frame_Shift_Del_p.E141fs|SUMF2_uc011kcx.1_Frame_Shift_Del_p.E141fs|SUMF2_uc003trt.2_Frame_Shift_Del_p.E34fs|SUMF2_uc011kcy.1_Intron|SUMF2_uc011kcz.1_Intron|SUMF2_uc003tru.2_RNA|SUMF2_uc011kda.1_Intron|SUMF2_uc003trx.2_Intron	260	GBM-74-6573-TP	p.E141fs	A	CTTCCAGTGGAAAAGGCATTT	NM_001130069	NP_001123541	56141892	Q8NBJ7	SUMF2_HUMAN	0	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		4	453	+	-	-	Breast(14;0.214)		Frame_Shift_Del	122						
SUMF2	25870		GRCh37	7	56144570	56144570	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000342190.6:c.636C>T	p.Thr212=	p.T212=	ENST00000342190	NM_001130069.2	212	acC/acT	0																																																																																																																																																																																																																																												
SUN3	256979	broad.mit.edu	GRCh37	7	48035742	48035742	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	A			TCGA-06-0686-01	TCGA-06-0686-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297325.4:c.579A>T		p.X193_splice	ENST00000297325	NM_001030019.1	193	ggA/ggT	0			1			A	G	uc003tof.2	protein_coding	YES	CCDS34636.1			579/1074									central_nervous_system(1)	1	c.(577-579)GGA>GGT			PROSITE_profiles:PS51469,hmmpanther:PTHR12911,hmmpanther:PTHR12911:SF15	Sad1 and UNC84 domain containing 1				ENSP00000297325		10-Jul									COSM3412111	10-Jul	.		ENST00000297325	Transcript				integral to membrane		ENSG00000164744	g.chr7:48035742T>A	22429			LOW								--	--	1																																		SUN3_uc010kyq.2_Silent_p.G93G|SUN3_uc003tog.2_Silent_p.G193G|SUN3_uc011kcf.1_Silent_p.G181G	1	1			p.G193G	NM_152782	NP_689995			1	SUN3_HUMAN	SUN3	HGNC	Q8TAQ9	SUN3_HUMAN					8	676	-			UPI000057B85F	193			SUN.		SNV	SUN3,splice_region_variant,p.=,ENST00000453192,NM_001284350.1;SUN3,splice_region_variant,p.=,ENST00000297325,NM_001030019.1;SUN3,splice_region_variant,p.=,ENST00000412142,;SUN3,splice_region_variant,p.=,ENST00000395572,NM_152782.3;SUN3,splice_region_variant,p.=,ENST00000453071,;SUN3,splice_region_variant,p.=,ENST00000438771,;SUN3,splice_region_variant,p.=,ENST00000412371,;SUN3,splice_region_variant,,ENST00000473723,;SUN3,splice_region_variant,,ENST00000449896,;	uc003tof.2	c.579A>T	739/1416	2	2			c.579A>T						7	SNP	c.(577-579)GGA>GGT	24	24			central_nervous_system(1)	1	Broad	Sad1 and UNC84 domain containing 1			48035742		0.313	ENSG00000164744	15157	g.chr7:48035742T>A		integral to membrane								32.482894	KEEP	7	11	-1	57	33	7	11	-1	42.984183	57	33	0.173077	1	0	0	0	0	0	0	1	0	--	--		0	A			SUN3_uc010kyq.2_Silent_p.G93G|SUN3_uc003tog.2_Silent_p.G193G|SUN3_uc011kcf.1_Silent_p.G181G	64	GBM-06-0686-TP	p.G193G	T	TGATGGAGGCTCCTAAAATTA	NM_152782	NP_689995	48035742	Q8TAQ9	SUN3_HUMAN	0			8	676	-	A	A			Silent	193			SUN.			
SUN3	0	broad.mit.edu	GRCh37	7	48056901	48056901	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-28-5213-01	TCGA-28-5213-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297325.4:c.246T>C	p.Tyr82=	p.Y82=	ENST00000297325	NM_001030019.1	82	taT/taC	0			1			G	Y	uc003tof.2	protein_coding	YES	CCDS34636.1			246/1074									central_nervous_system(1)	1	c.(244-246)TAT>TAC			hmmpanther:PTHR12911,hmmpanther:PTHR12911:SF15	Sad1 and UNC84 domain containing 1				ENSP00000297325		10-Mar									COSM3412112	10-Mar	.		ENST00000297325	Transcript				integral to membrane		ENSG00000164744	g.chr7:48056901A>G	22429			LOW								--	--	1																																		SUN3_uc003tog.2_Silent_p.Y82Y|SUN3_uc011kcf.1_Silent_p.Y70Y	1	1			p.Y82Y	NM_152782	NP_689995			1	SUN3_HUMAN	SUN3	HGNC	Q8TAQ9	SUN3_HUMAN					4	343	-			UPI000057B85F	82					SNV	SUN3,synonymous_variant,p.=,ENST00000453192,NM_001284350.1;SUN3,synonymous_variant,p.=,ENST00000297325,NM_001030019.1;SUN3,synonymous_variant,p.=,ENST00000395572,NM_152782.3;SUN3,synonymous_variant,p.=,ENST00000453071,;SUN3,5_prime_UTR_variant,,ENST00000412142,;SUN3,3_prime_UTR_variant,,ENST00000449896,;	uc003tof.2	c.246T>C	406/1416	4	4			c.246T>C						7	SNP	c.(244-246)TAT>TAC	30	30			central_nervous_system(1)	1	Broad	Sad1 and UNC84 domain containing 1			48056901		0.299	ENSG00000164744	15157	g.chr7:48056901A>G		integral to membrane								45.541484	KEEP	11	12	-1	52	53	11	12	-1	55.152077	52	53	0.188679	1	0	0	0	0	0	0	1	0	--	--		0	G			SUN3_uc003tog.2_Silent_p.Y82Y|SUN3_uc011kcf.1_Silent_p.Y70Y	220	GBM-28-5213-TP	p.Y82Y	A	CAATTATGGCATATAATTGTC	NM_152782	NP_689995	48056901	Q8TAQ9	SUN3_HUMAN	0			4	343	-	G	G			Silent	82						
SUOX	0	broad.mit.edu	GRCh37	12	56398139	56398139	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-41-4097-01	TCGA-41-4097-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266971.3:c.966C>G	p.Asp322Glu	p.D322E	ENST00000266971	NM_001032386.1	322	gaC/gaG	0			1			G	D/E	uc001six.2	protein_coding		CCDS8901.2			966/1638										0	c.(964-966)GAC>GAG			Gene3D:3.90.420.10,Pfam_domain:PF00174,hmmpanther:PTHR19372,hmmpanther:PTHR19372:SF2,Superfamily_domains:SSF56524	sulfite oxidase precursor				ENSP00000266971		5-May									COSM3398884	5-May	.		ENST00000266971	Transcript	1			mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity	ENSG00000139531	g.chr12:56398139C>G	11460			MODERATE		2	medium	getma.org/?cm=msa&ty=f&p=SUOX_HUMAN&rb=217&re=397&var=D322E	getma.org/pdb.php?prot=SUOX_HUMAN&from=217&to=397&var=D322E	getma.org/?cm=var&var=hg19,12,56398139,C,G&fts=all	D322E	--	--	1																																		SUOX_uc001siy.2_Missense_Mutation_p.D322E|SUOX_uc001siz.2_Missense_Mutation_p.D322E|SUOX_uc001sja.2_Missense_Mutation_p.D322E	1			possibly_damaging(0.891)	p.D322E	NM_000456	NP_000447		deleterious(0)	1	SUOX_HUMAN	SUOX	HGNC	P51687	SUOX_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)		F8VVW9_HUMAN,F8VRK9_HUMAN,F8VPA2_HUMAN,D6QX84_HUMAN,B2R6Y2_HUMAN		6	1292	+			UPI00001FC4A1	322			Molybdenum-pterin domain (By similarity).|Molybdenum-pterin-binding (By similarity).		SNV	SUOX,missense_variant,p.Asp322Glu,ENST00000394109,;SUOX,missense_variant,p.Asp322Glu,ENST00000394115,NM_000456.2;SUOX,missense_variant,p.Asp322Glu,ENST00000266971,NM_001032386.1;SUOX,missense_variant,p.Asp322Glu,ENST00000548274,;SUOX,missense_variant,p.Asp322Glu,ENST00000356124,NM_001032387.1;SUOX,3_prime_UTR_variant,,ENST00000551841,;IKZF4,upstream_gene_variant,,ENST00000262032,;SUOX,downstream_gene_variant,,ENST00000546833,;SUOX,downstream_gene_variant,,ENST00000547586,;SUOX,downstream_gene_variant,,ENST00000552258,;IKZF4,upstream_gene_variant,,ENST00000548601,;SUOX,downstream_gene_variant,,ENST00000550478,;SUOX,downstream_gene_variant,,ENST00000551698,;SUOX,downstream_gene_variant,,ENST00000550340,;SUOX,downstream_gene_variant,,ENST00000550121,;SUOX,downstream_gene_variant,,ENST00000552363,;SUOX,missense_variant,p.Asp322Glu,ENST00000550065,;SUOX,downstream_gene_variant,,ENST00000546712,;SUOX,downstream_gene_variant,,ENST00000552813,;	uc001six.2	c.966C>G	1194/2364	3	3			c.966C>G						12	SNP	c.(964-966)GAC>GAG	10	10				0	Broad	sulfite oxidase precursor			56398139		0.607	ENSG00000139531	15159	g.chr12:56398139C>G		mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity							-1.983509	KEEP	2	0	-1	17	23	2	0	-1	6.32869	17	23	0.051282	1	0	0	0	0	1	0	0	0	--	--		0	G			SUOX_uc001siy.2_Missense_Mutation_p.D322E|SUOX_uc001siz.2_Missense_Mutation_p.D322E|SUOX_uc001sja.2_Missense_Mutation_p.D322E	257	GBM-41-4097-TP	p.D322E	C	AGGGACTGGACTCAGACCCTA	NM_000456	NP_000447	56398139	P51687	SUOX_HUMAN	0	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)		6	1292	+	G	G			Missense_Mutation	322			Molybdenum-pterin domain (By similarity).|Molybdenum-pterin-binding (By similarity).			
SUPT16H	0	broad.mit.edu	GRCh37	14	21822688	21822688	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-12-3649-01	TCGA-12-3649-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216297.2:c.2672T>C	p.Leu891Pro	p.L891P	ENST00000216297	NM_007192.3	891	cTg/cCg	0			1			G	L/P	uc001wao.2	protein_coding	YES	CCDS9569.1			2672/3144										0	c.(2671-2673)CTG>CCG			hmmpanther:PTHR13980:SF15,hmmpanther:PTHR13980,Pfam_domain:PF08512	chromatin-specific transcription elongation				ENSP00000216297		23/26									COSM3401217	23/26	.		ENST00000216297	Transcript			DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	ENSG00000092201	g.chr14:21822688A>G	11465			MODERATE		1.495	low	getma.org/?cm=msa&ty=f&p=SP16H_HUMAN&rb=806&re=896&var=L891P	NA	getma.org/?cm=var&var=hg19,14,21822688,A,G&fts=all	L891P	--	--	1																																		SUPT16H_uc001wan.2_Missense_Mutation_p.L35P	1	1		possibly_damaging(0.853)	p.L891P	NM_007192	NP_009123		deleterious(0)	1	SP16H_HUMAN	SUPT16H	HGNC	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)			23	3011	-	all_cancers(95;0.00115)		UPI0000035D5C	891					SNV	SUPT16H,missense_variant,p.Leu891Pro,ENST00000216297,NM_007192.3;RPGRIP1,downstream_gene_variant,,ENST00000206660,;RPGRIP1,downstream_gene_variant,,ENST00000400017,NM_020366.3;RPGRIP1,downstream_gene_variant,,ENST00000557771,;RPGRIP1,downstream_gene_variant,,ENST00000556336,;RPGRIP1,downstream_gene_variant,,ENST00000555587,;RPGRIP1,downstream_gene_variant,,ENST00000307974,;RPGRIP1,downstream_gene_variant,,ENST00000382933,;SUPT16H,non_coding_transcript_exon_variant,,ENST00000557394,;SUPT16H,non_coding_transcript_exon_variant,,ENST00000552829,;RPGRIP1,downstream_gene_variant,,ENST00000553927,;RPGRIP1,downstream_gene_variant,,ENST00000555322,;RPGRIP1,downstream_gene_variant,,ENST00000555489,;	uc001wao.2	c.2672T>C	3011/4684	4	4			c.2672T>C						14	SNP	c.(2671-2673)CTG>CCG	20	20				0	Broad	chromatin-specific transcription elongation			21822688		0.338	ENSG00000092201	15160	g.chr14:21822688A>G	DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding							-29.10862	KEEP	1	2	-1	56	97	1	2	-1	7.02829	56	97	0.021277	1	0	0	0	0	1	0	0	0	--	--		0	G			SUPT16H_uc001wan.2_Missense_Mutation_p.L35P	125	GBM-12-3649-TP	p.L891P	A	TGTGTATTTCAGGTCGCAGGA	NM_007192	NP_009123	21822688	Q9Y5B9	SP16H_HUMAN	0	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	23	3011	-	G	G	all_cancers(95;0.00115)		Missense_Mutation	891						
SUPT16H	0	broad.mit.edu	GRCh37	14	21826560	21826560	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216297.2:c.2328G>A	p.Leu776=	p.L776=	ENST00000216297	NM_007192.3	776	ctG/ctA	0			1			T	L	uc001wao.2	protein_coding	YES	CCDS9569.1			2328/3144										0	c.(2326-2328)CTG>CTA			hmmpanther:PTHR13980:SF15,hmmpanther:PTHR13980	chromatin-specific transcription elongation				ENSP00000216297		20/26									COSM3747954	20/26	.		ENST00000216297	Transcript			DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	ENSG00000092201	g.chr14:21826560C>T	11465			LOW								--	--	1																																		SUPT16H_uc001wan.2_5'UTR	1	1			p.L776L	NM_007192	NP_009123			1	SP16H_HUMAN	SUPT16H	HGNC	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)			20	2667	-	all_cancers(95;0.00115)		UPI0000035D5C	776					SNV	SUPT16H,synonymous_variant,p.=,ENST00000216297,NM_007192.3;SUPT16H,non_coding_transcript_exon_variant,,ENST00000557394,;SUPT16H,upstream_gene_variant,,ENST00000552829,;	uc001wao.2	c.2328G>A	2667/4684	2	2			c.2328G>A						14	SNP	c.(2326-2328)CTG>CTA	41	41				0	Broad	chromatin-specific transcription elongation			21826560		0.378	ENSG00000092201	15160	g.chr14:21826560C>T	DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding							111.652279	KEEP	25	20	-1	33	25	25	20	-1	111.987606	33	25	0.43617	1	0	0	0	0	0	0	1	0	--	--		0	T			SUPT16H_uc001wan.2_5'UTR	131	GBM-12-5301-TP	p.L776L	C	AGGCTGTTTTCAGTTTGTGCC	NM_007192	NP_009123	21826560	Q9Y5B9	SP16H_HUMAN	0	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	20	2667	-	T	T	all_cancers(95;0.00115)		Silent	776						
SUPT20H	0	broad.mit.edu	GRCh37	13	37583874	37583876	+	inframe_deletion	In_Frame_Del	DEL	GAT	GAT	-	rs149036783		TCGA-32-2632-01	TCGA-32-2632-01	GAT	GAT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000350612.6:c.2273_2275delATC	p.His758del	p.H758del	ENST00000350612	NM_001014286.2	758	cATCgg/cgg	0			1			-	HR/R	uc001uwg.2	protein_coding	YES	CCDS31959.1			2273-2275/2340										0	c.(2272-2277)CATCGG>CGG			Low_complexity_(Seg):seg,hmmpanther:PTHR13526,hmmpanther:PTHR13526:SF3	family with sequence similarity 48, member A				ENSP00000218894		26/26										26/26	.		ENST00000350612	Transcript			autophagy|gastrulation	SAGA-type complex	protein binding	ENSG00000102710	g.chr13:37583874_37583876delGAT	20596			MODERATE								--	--	1																																		FAM48A_uc010abt.2_In_Frame_Del_p.724_725SS>S|FAM48A_uc001uwh.2_In_Frame_Del_p.724_725SS>S|FAM48A_uc001uwi.2_In_Frame_Del_p.723_724SS>S|FAM48A_uc001uwj.2_In_Frame_Del_p.724_725SS>S|FAM48A_uc001uwk.2_In_Frame_Del_p.802_803SS>S|FAM48A_uc001uwd.2_In_Frame_Del_p.210_211SS>S|FAM48A_uc001uwe.2_In_Frame_Del_p.H242del|FAM48A_uc001uwf.2_In_Frame_Del_p.H324del		1			p.H758del	NM_001014286	NP_001014308				SP20H_HUMAN	SUPT20H	HGNC	Q8NEM7	FA48A_HUMAN		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)			26	2521_2523	-		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)	UPI00004566E3	758					deletion	SUPT20H,inframe_deletion,p.Ser725del,ENST00000360252,NM_001278481.1,NM_017569.3;SUPT20H,inframe_deletion,p.Ser803del,ENST00000475892,NM_001278480.1;SUPT20H,inframe_deletion,p.His758del,ENST00000350612,NM_001014286.2;SUPT20H,inframe_deletion,p.Ser725del,ENST00000356185,;SUPT20H,inframe_deletion,p.Ser725del,ENST00000464744,NM_001278482.1;SUPT20H,inframe_deletion,p.His357del,ENST00000469488,;EXOSC8,downstream_gene_variant,,ENST00000389704,NM_181503.2;EXOSC8,downstream_gene_variant,,ENST00000481013,;EXOSC8,downstream_gene_variant,,ENST00000489088,;EXOSC8,downstream_gene_variant,,ENST00000474661,;EXOSC8,downstream_gene_variant,,ENST00000488779,;EXOSC8,downstream_gene_variant,,ENST00000464235,;SUPT20H,3_prime_UTR_variant,,ENST00000490716,;SUPT20H,3_prime_UTR_variant,,ENST00000495071,;SUPT20H,non_coding_transcript_exon_variant,,ENST00000473871,;SUPT20H,non_coding_transcript_exon_variant,,ENST00000484078,;SUPT20H,non_coding_transcript_exon_variant,,ENST00000472948,;EXOSC8,downstream_gene_variant,,ENST00000490537,;EXOSC8,downstream_gene_variant,,ENST00000495092,;EXOSC8,downstream_gene_variant,,ENST00000239893,;	uc001uwg.2	c.2273_2275delATC	2494-2496/2739	5	5			c.2273_2275delATC						13	DEL	c.(2272-2277)CATCGG>CGG	2	2				0	Broad	family with sequence similarity 48, member A			37583876		0.424	ENSG00000102710	5477	g.chr13:37583874_37583876delGAT	autophagy|gastrulation	SAGA-type complex	protein binding																				0.05	1	1	0	1	0	0	0	0	0	--	--		0	-			FAM48A_uc010abt.2_In_Frame_Del_p.724_725SS>S|FAM48A_uc001uwh.2_In_Frame_Del_p.724_725SS>S|FAM48A_uc001uwi.2_In_Frame_Del_p.723_724SS>S|FAM48A_uc001uwj.2_In_Frame_Del_p.724_725SS>S|FAM48A_uc001uwk.2_In_Frame_Del_p.802_803SS>S|FAM48A_uc001uwd.2_In_Frame_Del_p.210_211SS>S|FAM48A_uc001uwe.2_In_Frame_Del_p.H242del|FAM48A_uc001uwf.2_In_Frame_Del_p.H324del	240	GBM-32-2632-TP	p.H758del	GAT	CCTGTATGCCGATGATGATGTAG	NM_001014286	NP_001014308	37583874	Q8NEM7	FA48A_HUMAN	0		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)	26	2521_2523	-	-	-		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)	In_Frame_Del	758						
SUPT3H	0	broad.mit.edu	GRCh37	6	44922308	44922308	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371460.1:c.650G>A	p.Cys217Tyr	p.C217Y	ENST00000371460	NM_181356.2	217	tGc/tAc	0			1			T	C/Y	uc003oxo.2	protein_coding	YES	CCDS34466.1			650/987									ovary(2)|breast(1)	3	c.(649-651)TGC>TAC			hmmpanther:PTHR11380:SF3,hmmpanther:PTHR11380,Gene3D:1.10.20.10	suppressor of Ty 3 homolog isoform 2				ENSP00000360515		13-Oct									COSM1444850,COSM1444851	13-Oct	.		ENST00000371460	Transcript			histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity	ENSG00000196284	g.chr6:44922308C>T	11466			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=SUPT3_HUMAN&rb=199&re=398&var=C288Y	NA	getma.org/?cm=var&var=hg19,6,44922308,C,T&fts=all	C288Y	--	--	1																																		SUPT3H_uc003oxn.1_Missense_Mutation_p.C206Y|SUPT3H_uc011dvv.1_Missense_Mutation_p.C54Y|SUPT3H_uc003oxp.2_Missense_Mutation_p.C206Y|SUPT3H_uc011dvw.1_Missense_Mutation_p.C120Y	1,1	1		benign(0.019)	p.C217Y	NM_181356	NP_852001		tolerated(0.06)	1,1	SUPT3_HUMAN	SUPT3H	HGNC	O75486	SUPT3_HUMAN			B4E1H0_HUMAN		10	968	-			UPI000018CE7C	288					SNV	SUPT3H,missense_variant,p.Cys217Tyr,ENST00000371460,NM_181356.2;SUPT3H,missense_variant,p.Cys206Tyr,ENST00000371459,NM_003599.3,NM_001261823.1;SUPT3H,missense_variant,p.Cys217Tyr,ENST00000371461,;SUPT3H,missense_variant,p.Cys206Tyr,ENST00000306867,;SUPT3H,5_prime_UTR_variant,,ENST00000371458,;SUPT3H,missense_variant,p.Cys206Tyr,ENST00000475057,;	uc003oxo.2	c.650G>A	968/2389	2	2			c.650G>A						6	SNP	c.(649-651)TGC>TAC	42	42			ovary(2)|breast(1)	3	Broad	suppressor of Ty 3 homolog isoform 2			44922308		0.348	ENSG00000196284	15161	g.chr6:44922308C>T	histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			2			2	152.074695	KEEP	42	30	-1	56	49	42	30	-1	153.897884	56	49	0.38255	1	0	0	0	0	1	0	0	0	--	--		0	T			SUPT3H_uc003oxn.1_Missense_Mutation_p.C206Y|SUPT3H_uc011dvv.1_Missense_Mutation_p.C54Y|SUPT3H_uc003oxp.2_Missense_Mutation_p.C206Y|SUPT3H_uc011dvw.1_Missense_Mutation_p.C120Y	139	GBM-14-0817-TP	p.C217Y	C	CATACTGCTGCAGTCCAACCA	NM_181356	NP_852001	44922308	O75486	SUPT3_HUMAN	0			10	968	-	T	T			Missense_Mutation	288						
SUPT3H	0	broad.mit.edu	GRCh37	6	44988338	44988338	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01	TCGA-14-2554-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371460.1:c.251G>A	p.Arg84Gln	p.R84Q	ENST00000371460	NM_181356.2	84	cGg/cAg	0			1			T	R/Q	uc003oxo.2	protein_coding	YES	CCDS34466.1			251/987									ovary(2)|breast(1)	3	c.(250-252)CGG>CAG			hmmpanther:PTHR11380:SF3,hmmpanther:PTHR11380,Pfam_domain:PF02269	suppressor of Ty 3 homolog isoform 2				ENSP00000360515		13-Jun	5.77E-05					7.54E-05	0.0011	6.08E-05	rs771837309,COSM3352696,COSM3352697	13-Jun	.		ENST00000371460	Transcript			histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity	ENSG00000196284	g.chr6:44988338C>T	11466			MODERATE		2.455	medium	getma.org/?cm=msa&ty=f&p=SUPT3_HUMAN&rb=106&re=198&var=R155Q	NA	getma.org/?cm=var&var=hg19,6,44988338,C,T&fts=all	R155Q	--	--	1																																		SUPT3H_uc003oxn.1_Missense_Mutation_p.R73Q|SUPT3H_uc011dvv.1_5'UTR|SUPT3H_uc003oxp.2_Missense_Mutation_p.R73Q|SUPT3H_uc011dvw.1_5'UTR	0,1,1	1		probably_damaging(0.998)	p.R84Q	NM_181356	NP_852001		deleterious(0)	0,1,1	SUPT3_HUMAN	SUPT3H	HGNC	O75486	SUPT3_HUMAN			B4E1H0_HUMAN		6	569	-			UPI000018CE7C	155					SNV	SUPT3H,missense_variant,p.Arg84Gln,ENST00000371460,NM_181356.2;SUPT3H,missense_variant,p.Arg73Gln,ENST00000371459,NM_003599.3,NM_001261823.1;SUPT3H,missense_variant,p.Arg84Gln,ENST00000371461,;SUPT3H,missense_variant,p.Arg73Gln,ENST00000306867,;SUPT3H,missense_variant,p.Arg73Gln,ENST00000475057,;	uc003oxo.2	c.251G>A	569/2389	2	2			c.251G>A						6	SNP	c.(250-252)CGG>CAG	21	21			ovary(2)|breast(1)	3	Broad	suppressor of Ty 3 homolog isoform 2			44988338		0.318	ENSG00000196284	15161	g.chr6:44988338C>T	histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			2			2	184.374949	KEEP	33	36	-1	42	47	33	36	-1	184.75132	42	47	0.44186	1	0	0	0	0	1	0	0	0	--	--		0	T			SUPT3H_uc003oxn.1_Missense_Mutation_p.R73Q|SUPT3H_uc011dvv.1_5'UTR|SUPT3H_uc003oxp.2_Missense_Mutation_p.R73Q|SUPT3H_uc011dvw.1_5'UTR	150	GBM-14-2554-TP	p.R84Q	C	CCTTGCTCCCCGCAGCTGAGA	NM_181356	NP_852001	44988338	O75486	SUPT3_HUMAN	0			6	569	-	T	T			Missense_Mutation	155						
SUPT6H	0	broad.mit.edu	GRCh37	17	27010834	27010834	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A			TCGA-26-5135-01	TCGA-26-5135-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314616.6:c.2229G>A	p.Lys743=	p.K743=	ENST00000314616	NM_003170.3	743	aaG/aaA	0			1			A	K	uc002hby.2	protein_coding	YES	CCDS32596.1			2229/5181									ovary(2)|skin(1)	3	c.(2227-2229)AAG>AAA			Superfamily_domains:0054854,PIRSF_domain:PIRSF036947,Gene3D:3bzcA02,hmmpanther:PTHR10145:SF6,hmmpanther:PTHR10145	suppressor of Ty 6 homolog				ENSP00000319104		17/37									COSM2157052	17/37	.		ENST00000314616	Transcript			chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000109111	g.chr17:27010834G>A	11470			LOW								--	--	1																																		SUPT6H_uc010crt.2_Silent_p.K743K	1	1			p.K743K	NM_003170	NP_003161			1	SPT6H_HUMAN	SUPT6H	HGNC	Q7KZ85	SPT6H_HUMAN			J3QS64_HUMAN		17	2319	+	Lung NSC(42;0.00431)		UPI000015FFA7	743					SNV	SUPT6H,splice_region_variant,p.=,ENST00000314616,NM_003170.3;SUPT6H,splice_region_variant,p.=,ENST00000347486,;SUPT6H,upstream_gene_variant,,ENST00000583972,;SUPT6H,upstream_gene_variant,,ENST00000581908,;SUPT6H,downstream_gene_variant,,ENST00000577939,;SUPT6H,upstream_gene_variant,,ENST00000585230,;	uc002hby.2	c.2229G>A	2512/6518	2	2			c.2229G>A						17	SNP	c.(2227-2229)AAG>AAA	45	45			ovary(2)|skin(1)	3	Broad	suppressor of Ty 6 homolog			27010834		0.294	ENSG00000109111	15164	g.chr17:27010834G>A	chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity							57.145671	KEEP	11	7	-1	12	9	11	7	-1	57.195978	12	9	0.461538	1	0	0	0	0	0	0	1	0	--	--		0	A			SUPT6H_uc010crt.2_Silent_p.K743K	184	GBM-26-5135-TP	p.K743K	G	ATGTCATAAAGGTGAGGACAG	NM_003170	NP_003161	27010834	Q7KZ85	SPT6H_HUMAN	0			17	2319	+	A	A	Lung NSC(42;0.00431)		Silent	743						
SUSD1	64420	broad.mit.edu	GRCh37	9	114840947	114840947	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0132-01	TCGA-06-0132-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374270.3:c.1624A>G	p.Asn542Asp	p.N542D	ENST00000374270	NM_022486.3	542	Aat/Gat	0			1			C	N/D	uc004bfu.2	protein_coding	YES	CCDS6783.1			1624/2244										0	c.(1624-1626)AAT>GAT			hmmpanther:PTHR24051	sushi domain containing 1 precursor				ENSP00000363388		17-Dec									COSM3413263	17-Dec	.		ENST00000374270	Transcript				integral to membrane	calcium ion binding	ENSG00000106868	g.chr9:114840947T>C	25413			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=SUSD1_HUMAN&rb=495&re=694&var=N542D	NA	getma.org/?cm=var&var=hg19,9,114840947,T,C&fts=all	N542D	--	--	1																																		SUSD1_uc010mui.2_Missense_Mutation_p.N542D|SUSD1_uc010muj.2_Missense_Mutation_p.N542D	1	1		probably_damaging(0.997)	p.N542D	NM_022486	NP_071931		tolerated(0.06)	1	SUSD1_HUMAN	SUSD1	HGNC	Q6UWL2	SUSD1_HUMAN					12	1665	-			UPI0000049E0D	542			Extracellular (Potential).		SNV	SUSD1,missense_variant,p.Asn542Asp,ENST00000374270,NM_022486.3;SUSD1,missense_variant,p.Asn542Asp,ENST00000374263,NM_001282643.1;SUSD1,missense_variant,p.Asn526Asp,ENST00000355396,;SUSD1,missense_variant,p.Asn542Asp,ENST00000374264,NM_001282640.1;SUSD1,downstream_gene_variant,,ENST00000529933,;	uc004bfu.2	c.1624A>G	1797/3124	3	3			c.1624A>G						9	SNP	c.(1624-1626)AAT>GAT	8	8				0	Broad	sushi domain containing 1 precursor			114840947		0.488	ENSG00000106868	15171	g.chr9:114840947T>C		integral to membrane	calcium ion binding							65.63001	KEEP	18	16	-1	71	86	18	16	-1	82.689915	71	86	0.166667	1	0	0	0	0	1	0	0	0	--	--		0	C			SUSD1_uc010mui.2_Missense_Mutation_p.N542D|SUSD1_uc010muj.2_Missense_Mutation_p.N542D	17	GBM-06-0132-TP	p.N542D	T	CTACTGATATTAAAGGTCATT	NM_022486	NP_071931	114840947	Q6UWL2	SUSD1_HUMAN	0			12	1665	-	C	C			Missense_Mutation	542			Extracellular (Potential).			
SUSD1	64420	broad.mit.edu	GRCh37	9	114874102	114874102	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01	TCGA-06-0173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374270.3:c.1003C>T	p.Arg335Trp	p.R335W	ENST00000374270	NM_022486.3	335	Cgg/Tgg	0			1			A	R/W	uc004bfu.2	protein_coding	YES	CCDS6783.1			1003/2244										0	c.(1003-1005)CGG>TGG			hmmpanther:PTHR24051	sushi domain containing 1 precursor				ENSP00000363388		17-Aug	4.94E-05					4.51E-05		0.000183	rs747833554,COSM3413265	17-Aug	.		ENST00000374270	Transcript				integral to membrane	calcium ion binding	ENSG00000106868	g.chr9:114874102G>A	25413			MODERATE		2.365	medium	getma.org/?cm=msa&ty=f&p=SUSD1_HUMAN&rb=295&re=494&var=R335W	NA	getma.org/?cm=var&var=hg19,9,114874102,G,A&fts=all	R335W	--	--	1																																		SUSD1_uc010mui.2_Missense_Mutation_p.R335W|SUSD1_uc010muj.2_Missense_Mutation_p.R335W	0,1	1		possibly_damaging(0.836)	p.R335W	NM_022486	NP_071931		tolerated(0.07)	0,1	SUSD1_HUMAN	SUSD1	HGNC	Q6UWL2	SUSD1_HUMAN					8	1044	-			UPI0000049E0D	335			Extracellular (Potential).		SNV	SUSD1,missense_variant,p.Arg335Trp,ENST00000374270,NM_022486.3;SUSD1,missense_variant,p.Arg335Trp,ENST00000374263,NM_001282643.1;SUSD1,missense_variant,p.Arg319Trp,ENST00000355396,;SUSD1,missense_variant,p.Arg335Trp,ENST00000374264,NM_001282640.1;SUSD1,missense_variant,p.Arg149Trp,ENST00000415074,;SUSD1,non_coding_transcript_exon_variant,,ENST00000528773,;SUSD1,downstream_gene_variant,,ENST00000532348,;	uc004bfu.2	c.1003C>T	1176/3124	2	2			c.1003C>T						9	SNP	c.(1003-1005)CGG>TGG	36	36				0	Broad	sushi domain containing 1 precursor			114874102		0.498	ENSG00000106868	15171	g.chr9:114874102G>A		integral to membrane	calcium ion binding							2.597216	KEEP	5	3	-1	33	34	5	3	-1	13.734572	33	34	0.090909	1	0	0	0	0	1	0	0	0	--	--		0	A			SUSD1_uc010mui.2_Missense_Mutation_p.R335W|SUSD1_uc010muj.2_Missense_Mutation_p.R335W	36	GBM-06-0173-TP	p.R335W	G	GGGTCCAACCGTTGTCCTTTT	NM_022486	NP_071931	114874102	Q6UWL2	SUSD1_HUMAN	0			8	1044	-	A	A			Missense_Mutation	335			Extracellular (Potential).			
SUSD1	0	broad.mit.edu	GRCh37	9	114860875	114860875	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-16-0861-01	TCGA-16-0861-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374270.3:c.1349C>A	p.Thr450Lys	p.T450K	ENST00000374270	NM_022486.3	450	aCg/aAg	0			1			T	T/K	uc004bfu.2	protein_coding	YES	CCDS6783.1			1349/2244										0	c.(1348-1350)ACG>AAG			hmmpanther:PTHR24051	sushi domain containing 1 precursor				ENSP00000363388		17-Oct									COSM3413264	17-Oct	.		ENST00000374270	Transcript				integral to membrane	calcium ion binding	ENSG00000106868	g.chr9:114860875G>T	25413			MODERATE		2.56	medium	getma.org/?cm=msa&ty=f&p=SUSD1_HUMAN&rb=295&re=494&var=T450K	NA	getma.org/?cm=var&var=hg19,9,114860875,G,T&fts=all	T450K	--	--	1																																		SUSD1_uc010mui.2_Missense_Mutation_p.T450K|SUSD1_uc010muj.2_Missense_Mutation_p.T450K	1	1		possibly_damaging(0.88)	p.T450K	NM_022486	NP_071931		deleterious(0)	1	SUSD1_HUMAN	SUSD1	HGNC	Q6UWL2	SUSD1_HUMAN					10	1390	-			UPI0000049E0D	450			Extracellular (Potential).		SNV	SUSD1,missense_variant,p.Thr450Lys,ENST00000374270,NM_022486.3;SUSD1,missense_variant,p.Thr450Lys,ENST00000374263,NM_001282643.1;SUSD1,missense_variant,p.Thr434Lys,ENST00000355396,;SUSD1,missense_variant,p.Thr450Lys,ENST00000374264,NM_001282640.1;SUSD1,missense_variant,p.Thr277Lys,ENST00000415074,;SUSD1,non_coding_transcript_exon_variant,,ENST00000529933,;SUSD1,downstream_gene_variant,,ENST00000528773,;	uc004bfu.2	c.1349C>A	1522/3124	2	2			c.1349C>A						9	SNP	c.(1348-1350)ACG>AAG	39	39				0	Broad	sushi domain containing 1 precursor			114860875		0.443	ENSG00000106868	15171	g.chr9:114860875G>T		integral to membrane	calcium ion binding							250.52463	KEEP	49	36	0.576470588	63	50	49	36	0.576470588	251.221541	63	50	0.433333	1	0	0	0	0	1	0	0	0	--	--		0	T			SUSD1_uc010mui.2_Missense_Mutation_p.T450K|SUSD1_uc010muj.2_Missense_Mutation_p.T450K	156	GBM-16-0861-TP	p.T450K	G	TTGTTCCCTCGTTGTGAAGTT	NM_022486	NP_071931	114860875	Q6UWL2	SUSD1_HUMAN	0			10	1390	-	T	T			Missense_Mutation	450			Extracellular (Potential).			
SUSD2	0	broad.mit.edu	GRCh37	22	24582099	24582099	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-1753-01	TCGA-28-1753-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358321.3:c.1455G>A	p.Ala485=	p.A485=	ENST00000358321	NM_019601.3	485	gcG/gcA	0		A:0.0008	1	A:0		A	A	uc002zzn.1	protein_coding	YES	CCDS13824.1			1455/2469									skin(1)	1	c.(1453-1455)GCG>GCA			SMART_domains:SM00216,Pfam_domain:PF00094,hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF43,PROSITE_profiles:PS51233	sushi domain containing 2 precursor		A:0		ENSP00000351075	A:0	15-Sep	3.30E-05	0.000111				3.25E-05		6.45E-05	rs539884627,COSM3405553	15-Sep	.		ENST00000358321	Transcript		A:0.0002	immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	ENSG00000099994	g.chr22:24582099G>A	30667			LOW								--	--	1																																			0,1	1			p.A485A	NM_019601	NP_062547	A:0		0,1	SUSD2_HUMAN	SUSD2	HGNC	Q9UGT4	SUSD2_HUMAN					9	1499	+			UPI000006CC92	485			VWFD.|Extracellular (Potential).		SNV	SUSD2,synonymous_variant,p.=,ENST00000358321,NM_019601.3;SUSD2,non_coding_transcript_exon_variant,,ENST00000463101,;	uc002zzn.1	c.1455G>A	1716/3404	1	1			c.1455G>A						22	SNP	c.(1453-1455)GCG>GCA	55	55			skin(1)	1	Broad	sushi domain containing 2 precursor			24582099		0.647	ENSG00000099994	15172	g.chr22:24582099G>A	immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity							30.625757	KEEP	8	3	-1	9	13	8	3	-1	30.904671	9	13	0.392857	1	0	0	0	0	0	0	1	0	--	--		0	A				207	GBM-28-1753-TP	p.A485A	G	GGGTGCAGGCGCGGGCCCAGC	NM_019601	NP_062547	24582099	Q9UGT4	SUSD2_HUMAN	0			9	1499	+	A	A			Silent	485			VWFD.|Extracellular (Potential).			
SUSD2	0	broad.mit.edu	GRCh37	22	24579586	24579586	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4931-01	TCGA-76-4931-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358321.3:c.411C>T	p.Ser137=	p.S137=	ENST00000358321	NM_019601.3	137	tcC/tcT	0			1			T	S	uc002zzn.1	protein_coding	YES	CCDS13824.1			411/2469									skin(1)	1	c.(409-411)TCC>TCT			hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF43	sushi domain containing 2 precursor				ENSP00000351075		15-Mar									COSM3405552	15-Mar	.		ENST00000358321	Transcript			immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	ENSG00000099994	g.chr22:24579586C>T	30667			LOW								--	--	1																																			1	1			p.S137S	NM_019601	NP_062547			1	SUSD2_HUMAN	SUSD2	HGNC	Q9UGT4	SUSD2_HUMAN					3	455	+			UPI000006CC92	137			Extracellular (Potential).		SNV	SUSD2,synonymous_variant,p.=,ENST00000358321,NM_019601.3;CABIN1,downstream_gene_variant,,ENST00000398319,NM_001199281.1;CABIN1,downstream_gene_variant,,ENST00000263119,NM_012295.3,NM_001201429.1;CABIN1,downstream_gene_variant,,ENST00000405822,;CABIN1,downstream_gene_variant,,ENST00000337989,;SUSD2,non_coding_transcript_exon_variant,,ENST00000463101,;	uc002zzn.1	c.411C>T	672/3404	2	2			c.411C>T						22	SNP	c.(409-411)TCC>TCT	43	43			skin(1)	1	Broad	sushi domain containing 2 precursor			24579586		0.642	ENSG00000099994	15172	g.chr22:24579586C>T	immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity							44.809772	KEEP	18	17	-1	19	32	18	17	-1	45.794879	19	32	0.340909	1	0	0	0	0	0	0	1	0	--	--		0	T				270	GBM-76-4931-TP	p.S137S	C	ACGGCCACTCCTTCCCTCGTG	NM_019601	NP_062547	24579586	Q9UGT4	SUSD2_HUMAN	0			3	455	+	T	T			Silent	137			Extracellular (Potential).			
SUSD3	0	broad.mit.edu	GRCh37	9	95841846	95841846	+	synonymous_variant	Silent	SNP	C	C	T	rs146086851	byFrequency;by1000genomes	TCGA-26-5132-01	TCGA-26-5132-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375472.3:c.519C>T	p.Ser173=	p.S173=	ENST00000375472	NM_145006.2	173	agC/agT	0	T:0.0002	T:0	1	T:0		T	S	uc004atb.2	protein_coding	YES	CCDS6701.1			519/768									breast(2)|skin(2)|ovary(1)|lung(1)	6	c.(517-519)AGC>AGT				sushi domain containing 3		T:0	T:0.002	ENSP00000364621	T:0.002	5-Apr	0.00131	0.000292	0.000174	0.000464	0.000632	0.00215		0.000182	rs146086851,COSM2156944	5-Apr	common_variant		ENST00000375472	Transcript		T:0.0004		integral to membrane		ENSG00000157303	g.chr9:95841846C>T	28391			LOW								--	--	1																																		SUSD3_uc004atc.2_Silent_p.S160S	0,1	1			p.S173S	NM_145006	NP_659443	T:0		0,1	SUSD3_HUMAN	SUSD3	HGNC	Q96L08	SUSD3_HUMAN					4	555	+			UPI0000070B4A	173			Cytoplasmic (Potential).		SNV	SUSD3,synonymous_variant,p.=,ENST00000375472,NM_145006.2;SUSD3,synonymous_variant,p.=,ENST00000375469,NM_001287005.1;SUSD3,synonymous_variant,p.=,ENST00000465709,;SUSD3,intron_variant,,ENST00000471462,NM_001287007.1,NM_001287006.1;	uc004atb.2	c.519C>T	555/1195	1	1			c.519C>T						9	SNP	c.(517-519)AGC>AGT	3	3			breast(2)|skin(2)|ovary(1)|lung(1)	6	Broad	sushi domain containing 3			95841846		0.642	ENSG00000157303	15173	g.chr9:95841846C>T		integral to membrane								99.867525	KEEP	19	22	-1	22	33	19	22	-1	100.505974	22	33	0.409091	1	0	0	0	0	0	0	1	0	--	--		0	T			SUSD3_uc004atc.2_Silent_p.S160S	181	GBM-26-5132-TP	p.S173S	C	AACCCGTGAGCGGGCCCAGCC	NM_145006	NP_659443	95841846	Q96L08	SUSD3_HUMAN	0			4	555	+	T	T			Silent	173			Cytoplasmic (Potential).			
SUSD5	0	broad.mit.edu	GRCh37	3	33194586	33194586	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01	TCGA-19-4068-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309558.3:c.1538C>T	p.Thr513Met	p.T513M	ENST00000309558	NM_015551.1	513	aCg/aTg	0	A:0.0007	A:0.0008	1	A:0		A	T/M	uc003cfo.1	protein_coding	YES	CCDS46787.1			1538/1890									ovary(1)|central_nervous_system(1)	2	c.(1537-1539)ACG>ATG			hmmpanther:PTHR32493:SF0,hmmpanther:PTHR32493	sushi domain containing 5 precursor		A:0	A:0	ENSP00000308727	A:0	5-May	6.61E-05	0.000515	0.000175			1.51E-05			rs372702857,COSM1240346	5-May	common_variant		ENST00000309558	Transcript		A:0.0002	cell adhesion	integral to membrane	hyaluronic acid binding	ENSG00000173705	g.chr3:33194586G>A	29061			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=SUSD5_HUMAN&rb=201&re=627&var=T513M	NA	getma.org/?cm=var&var=hg19,3,33194586,G,A&fts=all	T513M	--	--	1																																			0,1	1		possibly_damaging(0.891)	p.T513M	NM_015551	NP_056366	A:0	tolerated(0.05)	0,1	SUSD5_HUMAN	SUSD5	HGNC	O60279	SUSD5_HUMAN					5	1956	-			UPI00001C1DF3	513			Extracellular (Potential).		SNV	SUSD5,missense_variant,p.Thr513Met,ENST00000309558,NM_015551.1;SUSD5,downstream_gene_variant,,ENST00000412539,;	uc003cfo.1	c.1538C>T	1956/5005	2	2			c.1538C>T						3	SNP	c.(1537-1539)ACG>ATG	48	48			ovary(1)|central_nervous_system(1)	2	Broad	sushi domain containing 5 precursor			33194586		0.522	ENSG00000173705	15175	g.chr3:33194586G>A	cell adhesion	integral to membrane	hyaluronic acid binding							61.614577	KEEP	13	10	-1	17	19	13	10	-1	61.887821	17	19	0.423077	1	0	0	0	0	1	0	0	0	--	--		0	A				168	GBM-19-4068-TP	p.T513M	G	TGCCATGATCGTTGAGGGGAT	NM_015551	NP_056366	33194586	O60279	SUSD5_HUMAN	0			5	1956	-	A	A			Missense_Mutation	513			Extracellular (Potential).			
SUSD5	0	broad.mit.edu	GRCh37	3	33194868	33194868	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-26-1439-01	TCGA-26-1439-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309558.3:c.1256A>G	p.Lys419Arg	p.K419R	ENST00000309558	NM_015551.1	419	aAg/aGg	0			1			C	K/R	uc003cfo.1	protein_coding	YES	CCDS46787.1			1256/1890									ovary(1)|central_nervous_system(1)	2	c.(1255-1257)AAG>AGG			hmmpanther:PTHR32493:SF0,hmmpanther:PTHR32493	sushi domain containing 5 precursor				ENSP00000308727		5-May									COSM3408603	5-May	.		ENST00000309558	Transcript			cell adhesion	integral to membrane	hyaluronic acid binding	ENSG00000173705	g.chr3:33194868T>C	29061			MODERATE		0.97	low	getma.org/?cm=msa&ty=f&p=SUSD5_HUMAN&rb=201&re=627&var=K419R	NA	getma.org/?cm=var&var=hg19,3,33194868,T,C&fts=all	K419R	--	--	1																																			1	1		benign(0.002)	p.K419R	NM_015551	NP_056366		tolerated(0.38)	1	SUSD5_HUMAN	SUSD5	HGNC	O60279	SUSD5_HUMAN					5	1674	-			UPI00001C1DF3	419			Extracellular (Potential).		SNV	SUSD5,missense_variant,p.Lys419Arg,ENST00000309558,NM_015551.1;SUSD5,downstream_gene_variant,,ENST00000412539,;	uc003cfo.1	c.1256A>G	1674/5005	3	3			c.1256A>G						3	SNP	c.(1255-1257)AAG>AGG	64	64			ovary(1)|central_nervous_system(1)	2	Broad	sushi domain containing 5 precursor			33194868		0.517	ENSG00000173705	15175	g.chr3:33194868T>C	cell adhesion	integral to membrane	hyaluronic acid binding							0.623732	KEEP	2	0	-1	14	21	2	0	-1	6.733915	14	21	0.064516	1	0	0	0	0	1	0	0	0	--	--		0	C				179	GBM-26-1439-TP	p.K419R	T	ACTCTTGGGCTTCTTAACTTC	NM_015551	NP_056366	33194868	O60279	SUSD5_HUMAN	0			5	1674	-	C	C			Missense_Mutation	419			Extracellular (Potential).			
SUSD5	0	broad.mit.edu	GRCh37	3	33194586	33194586	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01	TCGA-28-5219-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309558.3:c.1538C>T	p.Thr513Met	p.T513M	ENST00000309558	NM_015551.1	513	aCg/aTg	0	A:0.0007	A:0.0008	1	A:0		A	T/M	uc003cfo.1	protein_coding	YES	CCDS46787.1			1538/1890									ovary(1)|central_nervous_system(1)	2	c.(1537-1539)ACG>ATG			hmmpanther:PTHR32493:SF0,hmmpanther:PTHR32493	sushi domain containing 5 precursor		A:0	A:0	ENSP00000308727	A:0	5-May	6.61E-05	0.000515	0.000175			1.51E-05			rs372702857,COSM1240346	5-May	common_variant		ENST00000309558	Transcript		A:0.0002	cell adhesion	integral to membrane	hyaluronic acid binding	ENSG00000173705	g.chr3:33194586G>A	29061			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=SUSD5_HUMAN&rb=201&re=627&var=T513M	NA	getma.org/?cm=var&var=hg19,3,33194586,G,A&fts=all	T513M	--	--	1																																			0,1	1		possibly_damaging(0.891)	p.T513M	NM_015551	NP_056366	A:0	tolerated(0.05)	0,1	SUSD5_HUMAN	SUSD5	HGNC	O60279	SUSD5_HUMAN					5	1956	-			UPI00001C1DF3	513			Extracellular (Potential).		SNV	SUSD5,missense_variant,p.Thr513Met,ENST00000309558,NM_015551.1;SUSD5,downstream_gene_variant,,ENST00000412539,;	uc003cfo.1	c.1538C>T	1956/5005	2	2			c.1538C>T						3	SNP	c.(1537-1539)ACG>ATG	48	48			ovary(1)|central_nervous_system(1)	2	Broad	sushi domain containing 5 precursor			33194586		0.522	ENSG00000173705	15175	g.chr3:33194586G>A	cell adhesion	integral to membrane	hyaluronic acid binding							92.326322	KEEP	20	13	-1	23	11	20	13	-1	92.33	23	11	0.508197	1	0	0	0	0	1	0	0	0	--	--		0	A				225	GBM-28-5219-TP	p.T513M	G	TGCCATGATCGTTGAGGGGAT	NM_015551	NP_056366	33194586	O60279	SUSD5_HUMAN	0			5	1956	-	A	A			Missense_Mutation	513			Extracellular (Potential).			
SUV39H1	0	broad.mit.edu	GRCh37	X	48564987	48564987	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376687.3:c.1074C>T	p.Gly358=	p.G358=	ENST00000376687	NM_003173.2	358	ggC/ggT	0			1			T	G	uc004dkn.2	protein_coding	YES	CCDS14304.1			1074/1239										0	c.(1072-1074)GGC>GGT			Gene3D:2.170.270.10,Pfam_domain:PF00856,PIRSF_domain:PIRSF009343,PROSITE_profiles:PS50280,PROSITE_profiles:PS51579,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF316,SMART_domains:SM00317,Superfamily_domains:SSF82199	suppressor of variegation 3-9 homolog 1				ENSP00000365877		6-May									COSM3406419	6-May	.		ENST00000376687	Transcript			cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding	ENSG00000101945	g.chrX:48564987C>T	11479			LOW								--	--	1																																		SUV39H1_uc011mmf.1_Silent_p.G369G|SUV39H1_uc011mmg.1_RNA	1	1			p.G358G	NM_003173	NP_003164			1	SUV91_HUMAN	SUV39H1	HGNC	O43463	SUV91_HUMAN					5	1119	+			UPI000002E1D7	358			Mediates interaction with MECOM (By similarity).|SET.		SNV	SUV39H1,synonymous_variant,p.=,ENST00000376687,NM_003173.2;SUV39H1,synonymous_variant,p.=,ENST00000337852,NM_001282166.1;SUV39H1,3_prime_UTR_variant,,ENST00000453214,;AF196970.3,intron_variant,,ENST00000416061,;SUV39H1,non_coding_transcript_exon_variant,,ENST00000482260,;SUV39H1,non_coding_transcript_exon_variant,,ENST00000462786,;	uc004dkn.2	c.1074C>T	1264/2871	1	1			c.1074C>T						23	SNP	c.(1072-1074)GGC>GGT	11	11				0	Broad	suppressor of variegation 3-9 homolog 1			48564987		0.592	ENSG00000101945	15176	g.chrX:48564987C>T	cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding							52.046078	KEEP	7	12	-1	9	13	7	12	-1	52.068975	9	13	0.473684	1	0	0	0	0	0	0	1	0	--	--		0	T			SUV39H1_uc011mmf.1_Silent_p.G369G|SUV39H1_uc011mmg.1_RNA	218	GBM-28-5209-TP	p.G358G	C	TCCGGGCAGGCGAGGAGCTCA	NM_003173	NP_003164	48564987	O43463	SUV91_HUMAN	0			5	1119	+	T	T			Silent	358			Mediates interaction with MECOM (By similarity).|SET.			
SUV420H1	0	broad.mit.edu	GRCh37	11	67941367	67941370	+	frameshift_variant	Frame_Shift_Del	DEL	AAAT	AAAT	-			TCGA-06-0878-01	TCGA-06-0878-01	AAAT	AAAT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304363.4:c.554_557del	p.Tyr185CysfsTer27	p.Y185Cfs*27	ENST00000304363	NM_017635.3	185	tATTTg/tg	0			1			-	YL/X	uc001onm.1	protein_coding	YES	CCDS31623.1			554-557/2658									ovary(2)|kidney(1)	3	c.(553-558)TATTTGfs			PROSITE_profiles:PS51570,hmmpanther:PTHR12977,hmmpanther:PTHR12977:SF10,Superfamily_domains:SSF82199	suppressor of variegation 4-20 homolog 1 isoform				ENSP00000305899		11-Jun	1.65E-05					1.50E-05			rs751145286	11-Jun	.		ENST00000304363	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	ENSG00000110066	g.chr11:67941367_67941370delAAAT	24283			HIGH								--	--	1																																		SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_Frame_Shift_Del_p.Y13fs|SUV420H1_uc009ysf.2_5'UTR|SUV420H1_uc001ono.1_Frame_Shift_Del_p.Y185fs|SUV420H1_uc001onp.2_Frame_Shift_Del_p.Y185fs|SUV420H1_uc010rqa.1_Frame_Shift_Del_p.Y162fs|SUV420H1_uc001onq.2_Frame_Shift_Del_p.Y185fs		1			p.Y185fs	NM_017635	NP_060105				SV421_HUMAN	SUV420H1	HGNC	Q4FZB7	SV421_HUMAN			E9PKD9_HUMAN,C9JP58_HUMAN,C9JFG1_HUMAN,C9J6S5_HUMAN		6	810_813	-			UPI00001FADE7	185_186					deletion	SUV420H1,frameshift_variant,p.Tyr185CysfsTer27,ENST00000304363,NM_017635.3;SUV420H1,frameshift_variant,p.Tyr185CysfsTer27,ENST00000405515,;SUV420H1,frameshift_variant,p.Tyr185CysfsTer27,ENST00000401547,NM_016028.4;SUV420H1,frameshift_variant,p.Tyr162CysfsTer27,ENST00000402185,;SUV420H1,frameshift_variant,p.Tyr185CysfsTer27,ENST00000402789,;SUV420H1,frameshift_variant,p.Tyr114CysfsTer?,ENST00000453170,;SUV420H1,frameshift_variant,p.Tyr13CysfsTer27,ENST00000533271,;SUV420H1,downstream_gene_variant,,ENST00000458496,;SUV420H1,frameshift_variant,p.Tyr185CysfsTer27,ENST00000441488,;SUV420H1,3_prime_UTR_variant,,ENST00000427752,;SUV420H1,3_prime_UTR_variant,,ENST00000323599,;SUV420H1,non_coding_transcript_exon_variant,,ENST00000524672,;	uc001onm.1	c.554_557delATTT	908-911/5837	5	5			c.554_557delATTT						11	DEL	c.(553-558)TATTTGfs	60	60			ovary(2)|kidney(1)	3	Broad	suppressor of variegation 4-20 homolog 1 isoform			67941370		0.319	ENSG00000110066	15178	g.chr11:67941367_67941370delAAAT	regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding																				0.11	1	1	0	1	0	0	0	0	0	--	--		0	-			SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_Frame_Shift_Del_p.Y13fs|SUV420H1_uc009ysf.2_5'UTR|SUV420H1_uc001ono.1_Frame_Shift_Del_p.Y185fs|SUV420H1_uc001onp.2_Frame_Shift_Del_p.Y185fs|SUV420H1_uc010rqa.1_Frame_Shift_Del_p.Y162fs|SUV420H1_uc001onq.2_Frame_Shift_Del_p.Y185fs	74	GBM-06-0878-TP	p.Y185fs	AAAT	AAACATTCGCAAATAAATAAATAC	NM_017635	NP_060105	67941367	Q4FZB7	SV421_HUMAN	0			6	810_813	-	-	-			Frame_Shift_Del	185_186						
SUZ12	0	broad.mit.edu	GRCh37	17	30320320	30320320	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2521-01	TCGA-27-2521-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322652.5:c.1261G>A	p.Glu421Lys	p.E421K	ENST00000322652	NM_015355.2	421	Gaa/Aaa	0			1			A	E/K	uc002hgs.2	protein_coding	YES	CCDS11270.1			1261/2220	T		JAZF1		endometrial stromal tumours		JAZF1/SUZ12(131)		soft_tissue(98)|endometrium(33)	131	c.(1261-1263)GAA>AAA			hmmpanther:PTHR22597	joined to JAZF1				ENSP00000316578		16-Nov									COSM3402757	16-Nov	.		ENST00000322652	Transcript	1		negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding	ENSG00000178691	g.chr17:30320320G>A	17101			MODERATE		0.6	neutral	getma.org/?cm=msa&ty=f&p=SUZ12_HUMAN&rb=401&re=543&var=E421K	NA	getma.org/?cm=var&var=hg19,17,30320320,G,A&fts=all	E421K	--	--	1																																		SUZ12_uc002hgt.2_Missense_Mutation_p.E398K	1	1		possibly_damaging(0.477)	p.E421K	NM_015355	NP_056170		tolerated(0.11)	1	SUZ12_HUMAN	SUZ12	HGNC	Q15022	SUZ12_HUMAN					11	1483	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)	UPI000006F727	421					SNV	SUZ12,missense_variant,p.Glu421Lys,ENST00000322652,NM_015355.2;SUZ12,missense_variant,p.Glu398Lys,ENST00000580398,;SUZ12,upstream_gene_variant,,ENST00000578106,;	uc002hgs.2	c.1261G>A	1490/4491	2	2			c.1261G>A	T		JAZF1		endometrial stromal tumours	17	SNP	c.(1261-1263)GAA>AAA	18	18	JAZF1/SUZ12(131)		soft_tissue(98)|endometrium(33)	131	Broad	joined to JAZF1			30320320		0.264	ENSG00000178691	15180	g.chr17:30320320G>A	negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding			249			249	122.48769	KEEP	19	22	-1	30	25	19	22	-1	122.646389	30	25	0.454545	1	0	0	0	0	1	0	0	0	--	--		0	A			SUZ12_uc002hgt.2_Missense_Mutation_p.E398K	200	GBM-27-2521-TP	p.E421K	G	TACTCCAAATGAAAACCGACA	NM_015355	NP_056170	30320320	Q15022	SUZ12_HUMAN	0			11	1483	+	A	A		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)	Missense_Mutation	421						
SV2A	0	broad.mit.edu	GRCh37	1	149885276	149885276	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1977-01	TCGA-32-1977-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369146.3:c.117C>T	p.Asp39=	p.D39=	ENST00000369146	NM_014849.4	39	gaC/gaT	0	A:0.0002		1			A	D	uc001etg.2	protein_coding	YES	CCDS940.1			117/2229									ovary(6)|pancreas(1)	7	c.(115-117)GAC>GAT			Low_complexity_(Seg):seg,hmmpanther:PTHR24065:SF4,hmmpanther:PTHR24065,TIGRFAM_domain:TIGR01299	synaptic vesicle glycoprotein 2	Levetiracetam(DB01202)		A:0	ENSP00000358142		13-Feb	4.12E-05	9.61E-05				1.50E-05		0.000182	rs368036992,COSM247657	13-Feb	.		ENST00000369146	Transcript			neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	ENSG00000159164	g.chr1:149885276G>A	20566			LOW								--	--	1																																		SV2A_uc001eth.2_Silent_p.D39D	0,1	1			p.D39D	NM_014849	NP_055664			0,1	SV2A_HUMAN	SV2A	HGNC	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)				2	608	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		UPI000000DAD2	39			Cytoplasmic (Potential).|Interaction with SYT1 (By similarity).		SNV	SV2A,synonymous_variant,p.=,ENST00000369146,NM_014849.4,NM_001278719.1;SV2A,synonymous_variant,p.=,ENST00000369145,;	uc001etg.2	c.117C>T	608/4416	2	2			c.117C>T						1	SNP	c.(115-117)GAC>GAT	36	36			ovary(6)|pancreas(1)	7	Broad	synaptic vesicle glycoprotein 2		Levetiracetam(DB01202)	149885276		0.542	ENSG00000159164	15181	g.chr1:149885276G>A	neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity							129.902751	KEEP	30	28	-1	83	102	30	28	-1	141.963202	83	102	0.251163	1	0	0	0	0	0	0	1	0	--	--		0	A			SV2A_uc001eth.2_Silent_p.D39D	229	GBM-32-1977-TP	p.D39D	G	GGGAATATTCGTCCTGGACTC	NM_014849	NP_055664	149885276	Q7L0J3	SV2A_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		2	608	-	A	A	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		Silent	39			Cytoplasmic (Potential).|Interaction with SYT1 (By similarity).			
SV2B	9899	broad.mit.edu	GRCh37	15	91835641	91835641	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5415-01	TCGA-06-5415-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394232.1:c.1911C>T	p.Gly637=	p.G637=	ENST00000394232	NM_014848.4	637	ggC/ggT	0			1			T	G	uc002bqv.2	protein_coding		CCDS10370.1			1911/2052									ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8	c.(1909-1911)GGC>GGT			Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR24065,hmmpanther:PTHR24065:SF1,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR01299,Transmembrane_helices:TMhelix	synaptic vesicle protein 2B homolog				ENSP00000332818		12-Dec	1.65E-05					1.50E-05		6.06E-05	rs769375334,COSM2140703	12-Dec	.		ENST00000330276	Transcript			neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	ENSG00000185518	g.chr15:91835641C>T	16874			LOW								--	--	1																																		SV2B_uc010uqv.1_Silent_p.G486G|SV2B_uc002bqu.3_RNA	0,1				p.G637G	NM_014848	NP_055663			0,1	SV2B_HUMAN	SV2B	HGNC	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)				12	2302	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		UPI000006FCF1	637			Helical; (Potential).		SNV	SV2B,synonymous_variant,p.=,ENST00000394232,NM_014848.4;SV2B,synonymous_variant,p.=,ENST00000330276,;SV2B,synonymous_variant,p.=,ENST00000545111,NM_001167580.1;SV2B,synonymous_variant,p.=,ENST00000557410,;	uc002bqv.2	c.1911C>T	2305/11202	2	2			c.1911C>T						15	SNP	c.(1909-1911)GGC>GGT	20	20			ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8	Broad	synaptic vesicle protein 2B homolog			91835641		0.463	ENSG00000185518	15182	g.chr15:91835641C>T	neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity							65.749337	KEEP	13	18	-1	47	57	13	18	-1	73.185894	47	57	0.237288	1	0	0	0	0	0	0	1	0	--	--		0	T			SV2B_uc010uqv.1_Silent_p.G486G|SV2B_uc002bqu.3_RNA	98	GBM-06-5415-TP	p.G637G	C	GCAAATTTGGCGCCATCCTGG	NM_014848	NP_055663	91835641	Q7L1I2	SV2B_HUMAN	0	BRCA - Breast invasive adenocarcinoma(143;0.0895)		12	2302	+	T	T	Lung NSC(78;0.0987)|all_lung(78;0.172)		Silent	637			Helical; (Potential).			
SV2B	0	broad.mit.edu	GRCh37	15	91811770	91811770	+	synonymous_variant	Silent	SNP	C	C	T	rs140230861		TCGA-16-0861-01	TCGA-16-0861-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330276.4:c.1308C>T	p.Tyr436=	p.Y436=	ENST00000330276		436	taC/taT	0	T:0		1			T	Y	uc002bqv.2	protein_coding		CCDS10370.1			1308/2052									ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8	c.(1306-1308)TAC>TAT			PROSITE_profiles:PS50850,hmmpanther:PTHR24065,hmmpanther:PTHR24065:SF1,TIGRFAM_domain:TIGR01299	synaptic vesicle protein 2B homolog			T:0.0001	ENSP00000332818		12-Aug	0.000132	9.66E-05		0.000462		9.01E-05		0.000303	rs140230861,COSM3402022	12-Aug	common_variant		ENST00000330276	Transcript			neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	ENSG00000185518	g.chr15:91811770C>T	16874			LOW								--	--	1																																		SV2B_uc002bqt.2_Silent_p.Y436Y|SV2B_uc010uqv.1_Silent_p.Y285Y|SV2B_uc002bqu.3_RNA	0,1				p.Y436Y	NM_014848	NP_055663			0,1	SV2B_HUMAN	SV2B	HGNC	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)				8	1699	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		UPI000006FCF1	436			Extracellular (Potential).		SNV	SV2B,synonymous_variant,p.=,ENST00000394232,NM_014848.4;SV2B,synonymous_variant,p.=,ENST00000330276,;SV2B,synonymous_variant,p.=,ENST00000545111,NM_001167580.1;SV2B,synonymous_variant,p.=,ENST00000557410,;SV2B,downstream_gene_variant,,ENST00000553727,;	uc002bqv.2	c.1308C>T	1702/11202	1	1			c.1308C>T						15	SNP	c.(1306-1308)TAC>TAT	9	9			ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8	Broad	synaptic vesicle protein 2B homolog			91811770		0.418	ENSG00000185518	15182	g.chr15:91811770C>T	neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity							292.014627	KEEP	42	54	-1	55	56	42	54	-1	292.102838	55	56	0.477387	1	0	0	0	0	0	0	1	0	--	--		0	T			SV2B_uc002bqt.2_Silent_p.Y436Y|SV2B_uc010uqv.1_Silent_p.Y285Y|SV2B_uc002bqu.3_RNA	156	GBM-16-0861-TP	p.Y436Y	C	AGCATGTGTACGGCGCCACAA	NM_014848	NP_055663	91811770	Q7L1I2	SV2B_HUMAN	0	BRCA - Breast invasive adenocarcinoma(143;0.0895)		8	1699	+	T	T	Lung NSC(78;0.0987)|all_lung(78;0.172)		Silent	436			Extracellular (Potential).			
SV2B	9899		GRCh37	15	91801746	91801746	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000394232.1:c.880C>A	p.Leu294Met	p.L294M	ENST00000394232	NM_014848.4	294	Ctg/Atg	0																																																																																																																																																																																																																																												
SV2B	9899		GRCh37	15	91801750	91801750	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000394232.1:c.884A>G	p.Lys295Arg	p.K295R	ENST00000394232	NM_014848.4	295	aAg/aGg	0																																																																																																																																																																																																																																												
SV2C	22987	broad.mit.edu	GRCh37	5	75428120	75428120	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0238-01	TCGA-06-0238-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000502798.2:c.545A>G	p.Asp182Gly	p.D182G	ENST00000502798	NM_014979.1	182	gAc/gGc	0			1			G	D/G	uc003kei.1	protein_coding	YES	CCDS43331.1			545/2184									skin(1)	1	c.(544-546)GAC>GGC			Gene3D:1.20.1250.20,Pfam_domain:PF00083,PROSITE_profiles:PS50850,hmmpanther:PTHR24065,hmmpanther:PTHR24065:SF3,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR01299	synaptic vesicle glycoprotein 2C				ENSP00000423541		13-Feb									COSM3410416	13-Feb	.		ENST00000502798	Transcript			neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	ENSG00000122012	g.chr5:75428120A>G	30670			MODERATE		2.65	medium	getma.org/?cm=msa&ty=f&p=SV2C_HUMAN&rb=120&re=427&var=D182G	NA	getma.org/?cm=var&var=hg19,5,75428120,A,G&fts=all	D182G	--	--	1																																			1	1		possibly_damaging(0.866)	p.D182G	NM_014979	NP_055794		deleterious(0)	1	SV2C_HUMAN	SV2C	HGNC	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)			2	679	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	UPI000011DDBB	182			Extracellular (Potential).		SNV	SV2C,missense_variant,p.Asp182Gly,ENST00000502798,NM_014979.1;SV2C,missense_variant,p.Asp182Gly,ENST00000322285,;	uc003kei.1	c.545A>G	987/7158	4	4			c.545A>G						5	SNP	c.(544-546)GAC>GGC	24	24			skin(1)	1	Broad	synaptic vesicle glycoprotein 2C			75428120		0.502	ENSG00000122012	15183	g.chr5:75428120A>G	neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity							-11.797105	KEEP	3	6	-1	76	68	3	6	-1	16.423946	76	68	0.06383	1	0	0	0	0	1	0	0	0	--	--		0	G				55	GBM-06-0238-TP	p.D182G	A	GCTGAGACAGACCTCTGCATC	NM_014979	NP_055794	75428120	Q496J9	SV2C_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	2	679	+	G	G		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	Missense_Mutation	182			Extracellular (Potential).			
SV2C	22987	broad.mit.edu	GRCh37	5	75428010	75428010	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0939-01	TCGA-06-0939-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000502798.2:c.435C>T	p.Cys145=	p.C145=	ENST00000502798	NM_014979.1	145	tgC/tgT	0			1			T	C	uc003kei.1	protein_coding	YES	CCDS43331.1			435/2184									skin(1)	1	c.(433-435)TGC>TGT			hmmpanther:PTHR24065,hmmpanther:PTHR24065:SF3,TIGRFAM_domain:TIGR01299	synaptic vesicle glycoprotein 2C				ENSP00000423541		13-Feb	1.65E-05					3.00E-05			rs745535885,COSM2152384	13-Feb	.		ENST00000502798	Transcript			neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	ENSG00000122012	g.chr5:75428010C>T	30670			LOW								--	--	1																																			0,1	1			p.C145C	NM_014979	NP_055794			0,1	SV2C_HUMAN	SV2C	HGNC	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)			2	569	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	UPI000011DDBB	145			Cytoplasmic (Potential).		SNV	SV2C,synonymous_variant,p.=,ENST00000502798,NM_014979.1;SV2C,synonymous_variant,p.=,ENST00000322285,;	uc003kei.1	c.435C>T	877/7158	2	2			c.435C>T						5	SNP	c.(433-435)TGC>TGT	17	17			skin(1)	1	Broad	synaptic vesicle glycoprotein 2C			75428010		0.537	ENSG00000122012	15183	g.chr5:75428010C>T	neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity							159.876121	KEEP	29	37	-1	92	81	29	37	-1	168.501997	92	81	0.288372	1	0	0	0	0	0	0	1	0	--	--		0	T				78	GBM-06-0939-TP	p.C145C	C	TCCAAGAATGCGGTCATGGTC	NM_014979	NP_055794	75428010	Q496J9	SV2C_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	2	569	+	T	T		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	Silent	145			Cytoplasmic (Potential).			
SV2C	0	broad.mit.edu	GRCh37	5	75428035	75428035	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-27-2519-01	TCGA-27-2519-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000502798.2:c.460C>A	p.Leu154Ile	p.L154I	ENST00000502798	NM_014979.1	154	Ctt/Att	0			1			A	L/I	uc003kei.1	protein_coding	YES	CCDS43331.1			460/2184									skin(1)	1	c.(460-462)CTT>ATT			PROSITE_profiles:PS50850,hmmpanther:PTHR24065,hmmpanther:PTHR24065:SF3,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR01299,Transmembrane_helices:TMhelix	synaptic vesicle glycoprotein 2C				ENSP00000423541		13-Feb									COSM3410415	13-Feb	.		ENST00000502798	Transcript			neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	ENSG00000122012	g.chr5:75428035C>A	30670			MODERATE		2.14	medium	getma.org/?cm=msa&ty=f&p=SV2C_HUMAN&rb=120&re=427&var=L154I	NA	getma.org/?cm=var&var=hg19,5,75428035,C,A&fts=all	L154I	--	--	1																																			1	1		probably_damaging(0.97)	p.L154I	NM_014979	NP_055794		tolerated(0.06)	1	SV2C_HUMAN	SV2C	HGNC	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)			2	594	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	UPI000011DDBB	154			Cytoplasmic (Potential).		SNV	SV2C,missense_variant,p.Leu154Ile,ENST00000502798,NM_014979.1;SV2C,missense_variant,p.Leu154Ile,ENST00000322285,;	uc003kei.1	c.460C>A	902/7158	2	2			c.460C>A						5	SNP	c.(460-462)CTT>ATT	32	32			skin(1)	1	Broad	synaptic vesicle glycoprotein 2C			75428035		0.527	ENSG00000122012	15183	g.chr5:75428035C>A	neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity							-16.468857	KEEP	8	4	0.333333333	108	102	8	4	0.333333333	19.41387	108	102	0.052941	1	0	0	0	0	1	0	0	0	--	--		0	A				199	GBM-27-2519-TP	p.L154I	C	TCAGTGGGCCCTTTTCTTCGT	NM_014979	NP_055794	75428035	Q496J9	SV2C_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	2	594	+	A	A		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	Missense_Mutation	154			Cytoplasmic (Potential).			
SVEP1	79987	broad.mit.edu	GRCh37	9	113169426	113169426	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0168-01	TCGA-06-0168-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000401783.2:c.8454C>G	p.Asp2818Glu	p.D2818E	ENST00000401783	NM_153366.3	2818	gaC/gaG	0			1			C	D/E	uc010mtz.2	protein_coding					8385/10647									ovary(7)	7	c.(8452-8454)GAC>GAG			Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF43,SMART_domains:SM00032,Superfamily_domains:SSF57535	polydom				ENSP00000363593		38/48									COSM2150209	38/48	.		ENST00000374469	Transcript			cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	ENSG00000165124	g.chr9:113169426G>C	15985			MODERATE		2.245	medium	getma.org/?cm=msa&ty=f&p=SVEP1_HUMAN&rb=2775&re=2828&var=D2818E	getma.org/pdb.php?prot=SVEP1_HUMAN&from=2775&to=2828&var=D2818E	getma.org/?cm=var&var=hg19,9,113169426,G,C&fts=all	D2818E	--	--	1																																		SVEP1_uc010mty.2_Missense_Mutation_p.D744E	1			benign(0.217)	p.D2818E	NM_153366	NP_699197		deleterious(0.01)	1		SVEP1	HGNC	Q4LDE5	SVEP1_HUMAN					38	8791	-			UPI0000458920	2818			Sushi 23.		SNV	SVEP1,missense_variant,p.Asp2818Glu,ENST00000401783,NM_153366.3;SVEP1,missense_variant,p.Asp2795Glu,ENST00000374469,;SVEP1,missense_variant,p.Asp744Glu,ENST00000297826,;	uc010mtz.2	c.8454C>G	8649/12194	3	3			c.8454C>G						9	SNP	c.(8452-8454)GAC>GAG	1	1			ovary(7)	7	Broad	polydom			113169426		0.512	ENSG00000165124	15184	g.chr9:113169426G>C	cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding							242.057388	KEEP	41	39	-1	118	106	41	39	-1	254.408994	118	106	0.273408	1	0	0	0	0	1	0	0	0	--	--		0	C			SVEP1_uc010mty.2_Missense_Mutation_p.D744E	33	GBM-06-0168-TP	p.D2818E	G	CCCAGTTTTTGTCATCCTGGC	NM_153366	NP_699197	113169426	Q4LDE5	SVEP1_HUMAN	0			38	8791	-	C	C			Missense_Mutation	2818			Sushi 23.			
SVEP1	79987	broad.mit.edu	GRCh37	9	113228166	113228166	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000401783.2:c.3301G>A	p.Val1101Met	p.V1101M	ENST00000401783	NM_153366.3	1101	Gtg/Atg	0			1			T	V/M	uc010mtz.2	protein_coding					3232/10647									ovary(7)	7	c.(3301-3303)GTG>ATG			Pfam_domain:PF07699,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF43,Superfamily_domains:SSF57184	polydom				ENSP00000363593		18/48	2.48E-05		0.000104	0.000132				7.12E-05	rs773002647,COSM3413246,COSM3413247	18/48	.		ENST00000374469	Transcript			cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	ENSG00000165124	g.chr9:113228166C>T	15985			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=SVEP1_HUMAN&rb=1059&re=1106&var=V1101M	NA	getma.org/?cm=var&var=hg19,9,113228166,C,T&fts=all	V1101M	--	--	1																																		SVEP1_uc010mua.1_Missense_Mutation_p.V1101M	0,1,1			possibly_damaging(0.532)	p.V1101M	NM_153366	NP_699197		tolerated(0.09)	0,1,1		SVEP1	HGNC	Q4LDE5	SVEP1_HUMAN					18	3638	-			UPI0000458920	1101					SNV	SVEP1,missense_variant,p.Val1101Met,ENST00000401783,NM_153366.3;SVEP1,missense_variant,p.Val1078Met,ENST00000374469,;SVEP1,missense_variant,p.Val1101Met,ENST00000302728,;SVEP1,non_coding_transcript_exon_variant,,ENST00000467821,;	uc010mtz.2	c.3301G>A	3496/12194	2	2			c.3301G>A						9	SNP	c.(3301-3303)GTG>ATG	18	18			ovary(7)	7	Broad	polydom			113228166		0.438	ENSG00000165124	15184	g.chr9:113228166C>T	cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding							64.944179	KEEP	10	12	-1	0	3	10	12	-1	68.392785	0	3	0.904762	1	0	0	0	0	1	0	0	0	--	--		0	T			SVEP1_uc010mua.1_Missense_Mutation_p.V1101M	102	GBM-06-5858-TP	p.V1101M	C	GAAATGTTCACGGCTCCTCTT	NM_153366	NP_699197	113228166	Q4LDE5	SVEP1_HUMAN	0			18	3638	-	T	T			Missense_Mutation	1101						
SVEP1	0	broad.mit.edu	GRCh37	9	113173765	113173765	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01	TCGA-12-3650-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374469.1:c.6157C>T	p.Pro2053Ser	p.P2053S	ENST00000374469		2053	Ccc/Tcc	0			1			A	P/S	uc010mtz.2	protein_coding					6157/10647									ovary(7)	7	c.(6226-6228)CCC>TCC			Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF43,SMART_domains:SM00032,Superfamily_domains:SSF57535	polydom				ENSP00000363593		37/48									COSM3413244	37/48	.		ENST00000374469	Transcript			cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	ENSG00000165124	g.chr9:113173765G>A	15985			MODERATE		2.54	medium	getma.org/?cm=msa&ty=f&p=SVEP1_HUMAN&rb=2021&re=2078&var=P2076S	NA	getma.org/?cm=var&var=hg19,9,113173765,G,A&fts=all	P2076S	1.1	low	1																																		SVEP1_uc010mty.2_Missense_Mutation_p.P2S	1			probably_damaging(1)	p.P2076S	NM_153366	NP_699197		deleterious(0)	1		SVEP1	HGNC	Q4LDE5	SVEP1_HUMAN					37	6563	-			UPI0000458920	2076			Sushi 11.		SNV	SVEP1,missense_variant,p.Pro2076Ser,ENST00000401783,NM_153366.3;SVEP1,missense_variant,p.Pro2053Ser,ENST00000374469,;SVEP1,missense_variant,p.Pro2Ser,ENST00000297826,;	uc010mtz.2	c.6226C>T	6421/12194	2	2			c.6226C>T						9	SNP	c.(6226-6228)CCC>TCC	44	44			ovary(7)	7	Broad	polydom			113173765		0.483	ENSG00000165124	15184	g.chr9:113173765G>A	cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding							-4.208759	KEEP	2	1	-1	32	20	2	1	-1	6.453765	32	20	0.057692	1	0	0	0	0	1	0	0	0	1.1	low		0	A			SVEP1_uc010mty.2_Missense_Mutation_p.P2S	126	GBM-12-3650-TP	p.P2076S	G	ATACAACGGGGCATGTCTTGA	NM_153366	NP_699197	113173765	Q4LDE5	SVEP1_HUMAN	0			37	6563	-	A	A			Missense_Mutation	2076			Sushi 11.			
SVEP1	79987		GRCh37	9	113171158	113171158	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000401783.2:c.6722C>T	p.Pro2241Leu	p.P2241L	ENST00000401783	NM_153366.3	2241	cCt/cTt	0																																																																																																																																																																																																																																												
SVIL	6840	broad.mit.edu	GRCh37	10	29839574	29839574	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375398.2:c.779G>A	p.Arg260Gln	p.R260Q	ENST00000375398		260	cGg/cAg	0			1			T	R/Q	uc001iut.1	protein_coding		CCDS7164.1			779/6645									ovary(5)|upper_aerodigestive_tract(1)	6	c.(778-780)CGG>CAG			Low_complexity_(Seg):seg	supervillin isoform 2				ENSP00000348128		Jun-38									COSM2149099	Jun-38	.		ENST00000355867	Transcript			cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	ENSG00000197321	g.chr10:29839574C>T	11480			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=SVIL_HUMAN&rb=1&re=1439&var=R260Q	NA	getma.org/?cm=var&var=hg19,10,29839574,C,T&fts=all	R260Q	--	--	1																																		SVIL_uc001iuu.1_Missense_Mutation_p.R260Q|SVIL_uc009xld.1_Missense_Mutation_p.R260Q	1			benign(0.089)	p.R260Q	NM_021738	NP_068506		tolerated(0.22)	1	SVIL_HUMAN	SVIL	HGNC	O95425	SVIL_HUMAN			Q569J5_HUMAN		6	1532	-		Breast(68;0.103)	UPI0000366678	260					SNV	SVIL,missense_variant,p.Arg260Gln,ENST00000375398,;SVIL,missense_variant,p.Arg260Gln,ENST00000355867,NM_021738.2;SVIL,missense_variant,p.Arg260Gln,ENST00000375400,NM_003174.3;SVIL,downstream_gene_variant,,ENST00000483758,;	uc001iut.1	c.779G>A	1532/7586	2	2			c.779G>A						10	SNP	c.(778-780)CGG>CAG	29	29			ovary(5)|upper_aerodigestive_tract(1)	6	Broad	supervillin isoform 2			29839574		0.612	ENSG00000197321	15185	g.chr10:29839574C>T	cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding							83.679137	KEEP	11	16	-1	14	17	11	16	-1	83.683184	14	17	0.490196	1	0	0	0	0	1	0	0	0	--	--		0	T			SVIL_uc001iuu.1_Missense_Mutation_p.R260Q|SVIL_uc009xld.1_Missense_Mutation_p.R260Q	5	GBM-02-2470-TP	p.R260Q	C	GGAGGGGCTCCGGGAGGCTGC	NM_021738	NP_068506	29839574	O95425	SVIL_HUMAN	0			6	1532	-	T	T		Breast(68;0.103)	Missense_Mutation	260						
SVIL	6840	broad.mit.edu	GRCh37	10	29839816	29839816	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0241-01	TCGA-06-0241-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375398.2:c.537C>T	p.Ala179=	p.A179=	ENST00000375398		179	gcC/gcT	0			1			A	A	uc001iut.1	protein_coding		CCDS7164.1			537/6645									ovary(5)|upper_aerodigestive_tract(1)	6	c.(535-537)GCC>GCT				supervillin isoform 2				ENSP00000348128		Jun-38	1.65E-05					3.00E-05			rs764435020,COSM3397089	Jun-38	.		ENST00000355867	Transcript			cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	ENSG00000197321	g.chr10:29839816G>A	11480			LOW								--	--	1																																		SVIL_uc001iuu.1_Silent_p.A179A|SVIL_uc009xld.1_Silent_p.A179A	0,1				p.A179A	NM_021738	NP_068506			0,1	SVIL_HUMAN	SVIL	HGNC	O95425	SVIL_HUMAN			Q569J5_HUMAN		6	1290	-		Breast(68;0.103)	UPI0000366678	179					SNV	SVIL,synonymous_variant,p.=,ENST00000375398,;SVIL,synonymous_variant,p.=,ENST00000355867,NM_021738.2;SVIL,synonymous_variant,p.=,ENST00000375400,NM_003174.3;SVIL,downstream_gene_variant,,ENST00000483758,;	uc001iut.1	c.537C>T	1290/7586	2	2			c.537C>T						10	SNP	c.(535-537)GCC>GCT	43	43			ovary(5)|upper_aerodigestive_tract(1)	6	Broad	supervillin isoform 2			29839816		0.557	ENSG00000197321	15185	g.chr10:29839816G>A	cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding							-27.423594	KEEP	1	3	-1	76	81	1	3	-1	7.404136	76	81	0.028169	1	0	0	0	0	0	0	1	0	--	--		0	A			SVIL_uc001iuu.1_Silent_p.A179A|SVIL_uc009xld.1_Silent_p.A179A	57	GBM-06-0241-TP	p.A179A	G	TGGATTCACCGGCACAGGTCC	NM_021738	NP_068506	29839816	O95425	SVIL_HUMAN	0			6	1290	-	A	A		Breast(68;0.103)	Silent	179						
SVIL	0	broad.mit.edu	GRCh37	10	29751331	29751331	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T			TCGA-26-5135-01	TCGA-26-5135-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355867.4:c.6278-1G>A		p.X2093_splice	ENST00000355867	NM_021738.2			0			1			T		uc001iut.1	protein_coding		CCDS7164.1			6278/6645									ovary(5)|upper_aerodigestive_tract(1)	6	c.e36-1				supervillin isoform 2				ENSP00000348128											COSM3397086		.		ENST00000355867	Transcript			cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	ENSG00000197321	g.chr10:29751331C>T	11480			HIGH	35/37							--	--	1																																		LOC387647_uc001iuo.1_Intron|LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Splice_Site_p.G1007_splice|SVIL_uc001iuu.1_Splice_Site_p.G1667_splice	1				p.G2093_splice	NM_021738	NP_068506			1	SVIL_HUMAN	SVIL	HGNC	O95425	SVIL_HUMAN			Q569J5_HUMAN		36	7031	-		Breast(68;0.103)	UPI0000366678						SNV	SVIL,splice_acceptor_variant,,ENST00000375398,;SVIL,splice_acceptor_variant,,ENST00000355867,NM_021738.2;SVIL,splice_acceptor_variant,,ENST00000375400,NM_003174.3;SVIL,splice_acceptor_variant,,ENST00000535393,;PTCHD3P1,intron_variant,,ENST00000414457,;PTCHD3P1,intron_variant,,ENST00000446807,;PTCHD3P1,intron_variant,,ENST00000413405,;PTCHD3P1,intron_variant,,ENST00000423223,;PTCHD3P1,intron_variant,,ENST00000455774,;PTCHD3P1,intron_variant,,ENST00000445521,;PTCHD3P1,downstream_gene_variant,,ENST00000438202,;PTCHD3P1,downstream_gene_variant,,ENST00000430295,;	uc001iut.1	c.6278_splice	-/7586	5	2			c.6278_splice						10	SNP	c.e36-1	28	28			ovary(5)|upper_aerodigestive_tract(1)	6	Broad	supervillin isoform 2			29751331		0.468	ENSG00000197321	15185	g.chr10:29751331C>T	cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding							169.715124	KEEP	30	21	-1	20	16	30	21	-1	170.414194	20	16	0.6	1	0	0	0	0	0	0	0	1	--	--		0	T			LOC387647_uc001iuo.1_Intron|LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Splice_Site_p.G1007_splice|SVIL_uc001iuu.1_Splice_Site_p.G1667_splice	184	GBM-26-5135-TP	p.G2093_splice	C	AGATTTTTTCCTGTAGTTACA	NM_021738	NP_068506	29751331	O95425	SVIL_HUMAN	0			36	7031	-	T	T		Breast(68;0.103)	Splice_Site							
SVIL	0	broad.mit.edu	GRCh37	10	29784039	29784039	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4934-01	TCGA-76-4934-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355867.4:c.3736G>A	p.Val1246Ile	p.V1246I	ENST00000355867	NM_021738.2	1246	Gtt/Att	0		T:0	1	T:0		T	V/I	uc001iut.1	protein_coding		CCDS7164.1			3736/6645									ovary(5)|upper_aerodigestive_tract(1)	6	c.(3736-3738)GTT>ATT			hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF28	supervillin isoform 2		T:0		ENSP00000348128	T:0	19/38	0.000181		9.27E-05	0.000124	0.000631	0.000233		6.15E-05	rs552158750,COSM3397088	19/38	common_variant		ENST00000355867	Transcript		T:0.0002	cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	ENSG00000197321	g.chr10:29784039C>T	11480			MODERATE		1.2	low	getma.org/?cm=msa&ty=f&p=SVIL_HUMAN&rb=1&re=1439&var=V1246I	NA	getma.org/?cm=var&var=hg19,10,29784039,C,T&fts=all	V1246I	--	--	1																																		SVIL_uc010qdw.1_Missense_Mutation_p.V160I|SVIL_uc001iuu.1_Missense_Mutation_p.V820I|SVIL_uc009xlc.2_Missense_Mutation_p.V38I	0,1			benign(0.014)	p.V1246I	NM_021738	NP_068506	T:0.001	tolerated(0.39)	0,1	SVIL_HUMAN	SVIL	HGNC	O95425	SVIL_HUMAN			Q569J5_HUMAN		19	4489	-		Breast(68;0.103)	UPI0000366678	1246					SNV	SVIL,missense_variant,p.Val1246Ile,ENST00000375398,;SVIL,missense_variant,p.Val1246Ile,ENST00000355867,NM_021738.2;SVIL,missense_variant,p.Val820Ile,ENST00000375400,NM_003174.3;SVIL,missense_variant,p.Val160Ile,ENST00000535393,;SVIL,missense_variant,p.Val38Ile,ENST00000538146,;SVIL,non_coding_transcript_exon_variant,,ENST00000474106,;SVIL,non_coding_transcript_exon_variant,,ENST00000491872,;	uc001iut.1	c.3736G>A	4489/7586	2	2			c.3736G>A						10	SNP	c.(3736-3738)GTT>ATT	35	35			ovary(5)|upper_aerodigestive_tract(1)	6	Broad	supervillin isoform 2			29784039		0.552	ENSG00000197321	15185	g.chr10:29784039C>T	cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding							121.087128	KEEP	29	22	-1	14	19	29	22	-1	121.924137	14	19	0.627119	1	0	0	0	0	1	0	0	0	--	--		0	T			SVIL_uc010qdw.1_Missense_Mutation_p.V160I|SVIL_uc001iuu.1_Missense_Mutation_p.V820I|SVIL_uc009xlc.2_Missense_Mutation_p.V38I	272	GBM-76-4934-TP	p.V1246I	C	GGTTTGGAAACGGGTGTGGTG	NM_021738	NP_068506	29784039	O95425	SVIL_HUMAN	0			19	4489	-	T	T		Breast(68;0.103)	Missense_Mutation	1246						
SVOPL	136306	broad.mit.edu	GRCh37	7	138314843	138314843	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0174-01	TCGA-06-0174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000419765.3:c.814C>A	p.Leu272Ile	p.L272I	ENST00000419765	NM_001139456.1	272	Cta/Ata	0			1			T	L/I	uc011kqh.1	protein_coding	YES	CCDS47721.1			814/1479										0	c.(814-816)CTA>ATA			Superfamily_domains:SSF103473,Pfam_domain:PF07690,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF175,PROSITE_profiles:PS50850	SVOP-like isoform 1				ENSP00000405482		15-Sep									COSM3411633,COSM3411632	15-Sep	.		ENST00000419765	Transcript				integral to membrane	transmembrane transporter activity	ENSG00000157703	g.chr7:138314843G>T	27034			MODERATE		2.42	medium	getma.org/?cm=msa&ty=f&p=SVOPL_HUMAN&rb=50&re=310&var=L272I	NA	getma.org/?cm=var&var=hg19,7,138314843,G,T&fts=all	L272I	--	--	1																																		SVOPL_uc003vue.2_Missense_Mutation_p.L120I	1,1	1		possibly_damaging(0.855)	p.L272I	NM_001139456	NP_001132928		deleterious(0)	1,1	SVOPL_HUMAN	SVOPL	HGNC	Q8N434	SVOPL_HUMAN					9	814	-			UPI0001565476	272					SNV	SVOPL,missense_variant,p.Leu152Ile,ENST00000421622,;SVOPL,missense_variant,p.Leu272Ile,ENST00000419765,NM_001139456.1;SVOPL,missense_variant,p.Leu120Ile,ENST00000436657,NM_174959.2;SVOPL,missense_variant,p.Leu120Ile,ENST00000288513,;SNORA40,upstream_gene_variant,,ENST00000516379,;SVOPL,upstream_gene_variant,,ENST00000463557,;SVOPL,missense_variant,p.Leu25Ile,ENST00000441685,;SVOPL,upstream_gene_variant,,ENST00000478865,;	uc011kqh.1	c.814C>A	848/1523	2	2			c.814C>A						7	SNP	c.(814-816)CTA>ATA	41	41				0	Broad	SVOP-like isoform 1			138314843		0.393	ENSG00000157703	15188	g.chr7:138314843G>T		integral to membrane	transmembrane transporter activity							119.949441	KEEP	34	25	0.576271186	112	104	34	25	0.576271186	135.320309	112	104	0.223744	1	0	0	0	0	1	0	0	0	--	--		0	T			SVOPL_uc003vue.2_Missense_Mutation_p.L120I	37	GBM-06-0174-TP	p.L272I	G	GCATCCAATAGGTCTGCAAAT	NM_001139456	NP_001132928	138314843	Q8N434	SVOPL_HUMAN	0			9	814	-	T	T			Missense_Mutation	272						
SVOPL	0	broad.mit.edu	GRCh37	7	138310791	138310791	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs144549446		TCGA-15-0742-01	TCGA-15-0742-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000419765.3:c.1186G>A	p.Gly396Ser	p.G396S	ENST00000419765	NM_001139456.1	396	Ggc/Agc	0	T:0.0002	T:0.003	1	T:0		T	G/S	uc011kqh.1	protein_coding	YES	CCDS47721.1			1186/1479										0	c.(1186-1188)GGC>AGC			Superfamily_domains:SSF103473,Pfam_domain:PF00083,Gene3D:1.20.1250.20,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF175,PROSITE_profiles:PS50850,Transmembrane_helices:TMhelix	SVOP-like isoform 1		T:0	T:0.0001	ENSP00000405482	T:0	15-Dec	0.000132	0.000602	8.93E-05		0.000153	7.64E-05		0.000187	rs144549446,COSM3411631,COSM3411630	15-Dec	common_variant		ENST00000419765	Transcript		T:0.0008		integral to membrane	transmembrane transporter activity	ENSG00000157703	g.chr7:138310791C>T	27034			MODERATE		1.12	low	getma.org/?cm=msa&ty=f&p=SVOPL_HUMAN&rb=338&re=492&var=G396S	NA	getma.org/?cm=var&var=hg19,7,138310791,C,T&fts=all	G396S	--	--	1																																		SVOPL_uc003vue.2_Missense_Mutation_p.G244S	0,1,1	1		probably_damaging(0.99)	p.G396S	NM_001139456	NP_001132928	T:0	tolerated(0.26)	0,1,1	SVOPL_HUMAN	SVOPL	HGNC	Q8N434	SVOPL_HUMAN					12	1186	-			UPI0001565476	396			Helical; (Potential).		SNV	SVOPL,missense_variant,p.Gly276Ser,ENST00000421622,;SVOPL,missense_variant,p.Gly396Ser,ENST00000419765,NM_001139456.1;SVOPL,missense_variant,p.Gly244Ser,ENST00000436657,NM_174959.2;SVOPL,missense_variant,p.Gly244Ser,ENST00000288513,;SNORA40,upstream_gene_variant,,ENST00000516379,;SVOPL,non_coding_transcript_exon_variant,,ENST00000463557,;SVOPL,missense_variant,p.Gly149Ser,ENST00000441685,;SVOPL,non_coding_transcript_exon_variant,,ENST00000478865,;	uc011kqh.1	c.1186G>A	1220/1523	1	1			c.1186G>A						7	SNP	c.(1186-1188)GGC>AGC	11	11				0	Broad	SVOP-like isoform 1			138310791		0.507	ENSG00000157703	15188	g.chr7:138310791C>T		integral to membrane	transmembrane transporter activity							30.742127	KEEP	9	4	-1	33	36	9	4	-1	35.776289	33	36	0.206349	1	0	0	0	0	1	0	0	0	--	--		0	T			SVOPL_uc003vue.2_Missense_Mutation_p.G244S	153	GBM-15-0742-TP	p.G396S	C	CCAATCAGGCCGGCACTAGAA	NM_001139456	NP_001132928	138310791	Q8N434	SVOPL_HUMAN	0			12	1186	-	T	T			Missense_Mutation	396			Helical; (Potential).			
SVOPL	0	broad.mit.edu	GRCh37	7	138305873	138305873	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01	TCGA-28-5209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000419765.3:c.1271C>T	p.Pro424Leu	p.P424L	ENST00000419765	NM_001139456.1	424	cCc/cTc	0			1			A	P/L	uc011kqh.1	protein_coding	YES	CCDS47721.1			1271/1479										0	c.(1270-1272)CCC>CTC			Superfamily_domains:SSF103473,Pfam_domain:PF00083,Gene3D:1.20.1250.20,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF175,PROSITE_profiles:PS50850	SVOP-like isoform 1				ENSP00000405482		13/15									COSM3411629,COSM3411628	13/15	.		ENST00000419765	Transcript				integral to membrane	transmembrane transporter activity	ENSG00000157703	g.chr7:138305873G>A	27034			MODERATE		3.19	medium	getma.org/?cm=msa&ty=f&p=SVOPL_HUMAN&rb=338&re=492&var=P424L	NA	getma.org/?cm=var&var=hg19,7,138305873,G,A&fts=all	P424L	--	--	1																																		SVOPL_uc003vue.2_Missense_Mutation_p.P272L	1,1	1		probably_damaging(0.969)	p.P424L	NM_001139456	NP_001132928		deleterious(0)	1,1	SVOPL_HUMAN	SVOPL	HGNC	Q8N434	SVOPL_HUMAN					13	1271	-			UPI0001565476	424					SNV	SVOPL,missense_variant,p.Pro304Leu,ENST00000421622,;SVOPL,missense_variant,p.Pro424Leu,ENST00000419765,NM_001139456.1;SVOPL,missense_variant,p.Pro272Leu,ENST00000436657,NM_174959.2;SVOPL,missense_variant,p.Pro272Leu,ENST00000288513,;SNORA40,downstream_gene_variant,,ENST00000516379,;SVOPL,intron_variant,,ENST00000463557,;SVOPL,missense_variant,p.Pro177Leu,ENST00000441685,;SVOPL,non_coding_transcript_exon_variant,,ENST00000478865,;	uc011kqh.1	c.1271C>T	1305/1523	2	2			c.1271C>T						7	SNP	c.(1270-1272)CCC>CTC	29	29				0	Broad	SVOP-like isoform 1			138305873		0.587	ENSG00000157703	15188	g.chr7:138305873G>A		integral to membrane	transmembrane transporter activity							86.373609	KEEP	15	20	-1	49	51	15	20	-1	91.883841	49	51	0.269565	1	0	0	0	0	1	0	0	0	--	--		0	A			SVOPL_uc003vue.2_Missense_Mutation_p.P272L	218	GBM-28-5209-TP	p.P424L	G	CATCGTGGTGGGGTAGACCTG	NM_001139456	NP_001132928	138305873	Q8N434	SVOPL_HUMAN	0			13	1271	-	A	A			Missense_Mutation	424						
SWAP70	23075		GRCh37	11	9754172	9754172	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000318950.6:c.995C>A	p.Ala332Asp	p.A332D	ENST00000318950	NM_015055.2	332	gCt/gAt	0																																																																																																																																																																																																																																												
SWT1	0	broad.mit.edu	GRCh37	1	185144110	185144110	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-32-1991-01	TCGA-32-1991-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367500.4:c.831A>G	p.Leu277=	p.L277=	ENST00000367500	NM_017673.6	277	ttA/ttG	0			1			G	L	uc001grg.3	protein_coding	YES	CCDS1367.1			831/2703										0	c.(829-831)TTA>TTG			hmmpanther:PTHR16161,hmmpanther:PTHR16161:SF0	hypothetical protein LOC54823				ENSP00000356470		19-May									COSM3400095	19-May	.		ENST00000367500	Transcript						ENSG00000116668	g.chr1:185144110A>G	16785			LOW								--	--	1																																		C1orf26_uc001grh.3_Silent_p.L277L	1	1			p.L277L	NM_001105518	NP_001098988			1	SWT1_HUMAN	SWT1	HGNC	Q5T5J6	SWT1_HUMAN			Q5TC96_HUMAN,B3KSB6_HUMAN		5	945	+			UPI000013D4C5	277					SNV	SWT1,synonymous_variant,p.=,ENST00000367500,NM_017673.6;SWT1,synonymous_variant,p.=,ENST00000367501,NM_001105518.1;SWT1,downstream_gene_variant,,ENST00000450350,;CTA-253N17.1,upstream_gene_variant,,ENST00000413694,;	uc001grg.3	c.831A>G	996/3830	3	3			c.831A>G						1	SNP	c.(829-831)TTA>TTG	16	16				0	Broad	hypothetical protein LOC54823			185144110		0.348	ENSG00000116668	1992	g.chr1:185144110A>G										465.569328	KEEP	62	86	-1	108	108	62	86	-1	467.443078	108	108	0.415282	1	0	0	0	0	0	0	1	0	--	--		0	G			C1orf26_uc001grh.3_Silent_p.L277L	234	GBM-32-1991-TP	p.L277L	A	AGGTTTCATTAAATGTGACTA	NM_001105518	NP_001098988	185144110	Q5T5J6	SWT1_HUMAN	0			5	945	+	G	G			Silent	277						
SWT1	0	broad.mit.edu	GRCh37	1	185143825	185143825	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs146489629	byFrequency	TCGA-32-4209-01	TCGA-32-4209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367500.4:c.546G>C	p.Lys182Asn	p.K182N	ENST00000367500	NM_017673.6	182	aaG/aaC	0			1			C	K/N	uc001grg.3	protein_coding	YES	CCDS1367.1			546/2703										0	c.(544-546)AAG>AAC			hmmpanther:PTHR16161,hmmpanther:PTHR16161:SF0	hypothetical protein LOC54823				ENSP00000356470		19-May									COSM3400094	19-May	.		ENST00000367500	Transcript						ENSG00000116668	g.chr1:185143825G>C	16785			MODERATE		1.955	medium	getma.org/?cm=msa&ty=f&p=SWT1_HUMAN&rb=1&re=200&var=K182N	NA	getma.org/?cm=var&var=hg19,1,185143825,G,C&fts=all	K182N	--	--	1																																		C1orf26_uc001grh.3_Missense_Mutation_p.K182N	1	1		benign(0.086)	p.K182N	NM_001105518	NP_001098988		tolerated(0.08)	1	SWT1_HUMAN	SWT1	HGNC	Q5T5J6	SWT1_HUMAN			Q5TC96_HUMAN,B3KSB6_HUMAN		5	660	+			UPI000013D4C5	182					SNV	SWT1,missense_variant,p.Lys182Asn,ENST00000367500,NM_017673.6;SWT1,missense_variant,p.Lys182Asn,ENST00000367501,NM_001105518.1;SWT1,downstream_gene_variant,,ENST00000450350,;CTA-253N17.1,upstream_gene_variant,,ENST00000413694,;	uc001grg.3	c.546G>C	711/3830	4	4			c.546G>C						1	SNP	c.(544-546)AAG>AAC	34	34				0	Broad	hypothetical protein LOC54823			185143825		0.353	ENSG00000116668	1992	g.chr1:185143825G>C										-0.384198	KEEP	6	7	-1	89	86	6	7	-1	34.078078	89	86	0.071429	1	0	0	0	0	1	0	0	0	--	--		0	C			C1orf26_uc001grh.3_Missense_Mutation_p.K182N	244	GBM-32-4209-TP	p.K182N	G	AGAGAGAGAAGATGAAAGAAC	NM_001105518	NP_001098988	185143825	Q5T5J6	SWT1_HUMAN	0			5	660	+	C	C			Missense_Mutation	182						
SYBU	55638	broad.mit.edu	GRCh37	8	110588241	110588241	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A			TCGA-06-1804-01	TCGA-06-1804-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000422135.1:c.886G>T	p.Glu296Ter	p.E296*	ENST00000422135	NM_001099744.1	296	Gaa/Taa	0			1			A	E/*	uc003ynj.3	protein_coding		CCDS47912.1			886/1992									ovary(1)	1	c.(886-888)GAA>TAA			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF15290,hmmpanther:PTHR16208,hmmpanther:PTHR16208:SF4,Low_complexity_(Seg):seg	Golgi-localized syntaphilin-related protein				ENSP00000276646		7-Jul									COSM2152458	7-Jul	.		ENST00000276646	Transcript				cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		ENSG00000147642	g.chr8:110588241C>A	26011			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,8,110588241,C,A&fts=all	E296*	--	--	1																																		SYBU_uc003yni.3_Nonsense_Mutation_p.E293*|SYBU_uc003ynk.3_Nonsense_Mutation_p.E177*|SYBU_uc010mco.2_Nonsense_Mutation_p.E295*|SYBU_uc003ynl.3_Nonsense_Mutation_p.E295*|SYBU_uc010mcp.2_Nonsense_Mutation_p.E296*|SYBU_uc010mcq.2_Nonsense_Mutation_p.E296*|SYBU_uc003yno.3_Nonsense_Mutation_p.E177*|SYBU_uc010mcr.2_Nonsense_Mutation_p.E296*|SYBU_uc003ynm.3_Nonsense_Mutation_p.E295*|SYBU_uc003ynn.3_Nonsense_Mutation_p.E295*|SYBU_uc010mcs.2_Nonsense_Mutation_p.E177*|SYBU_uc010mct.2_Nonsense_Mutation_p.E296*|SYBU_uc010mcu.2_Nonsense_Mutation_p.E295*|SYBU_uc003ynp.3_Nonsense_Mutation_p.E228*|SYBU_uc010mcv.2_Nonsense_Mutation_p.E296*|SYBU_uc003ynh.3_Nonsense_Mutation_p.E90*|SYBU_uc011lhw.1_Nonsense_Mutation_p.E166*	1				p.E296*	NM_001099754	NP_001093224			1	SYBU_HUMAN	SYBU	HGNC	Q9NX95	SYBU_HUMAN			E9PRT7_HUMAN,E9PQG2_HUMAN,E9PPS4_HUMAN,E9PPC2_HUMAN,E9PN31_HUMAN,E9PLB9_HUMAN,E9PL50_HUMAN,E9PK96_HUMAN,E9PJ11_HUMAN,E9PI48_HUMAN,B3KRD1_HUMAN		7	1049	-			UPI00000407AB	296			Potential.|Sufficient for interaction with KIF5B.		SNV	SYBU,stop_gained,p.Glu293Ter,ENST00000399066,NM_001099756.1;SYBU,stop_gained,p.Glu295Ter,ENST00000533895,;SYBU,stop_gained,p.Glu296Ter,ENST00000422135,NM_001099744.1;SYBU,stop_gained,p.Glu295Ter,ENST00000419099,NM_001099743.1;SYBU,stop_gained,p.Glu296Ter,ENST00000433638,NM_017786.5,NM_001099750.1;SYBU,stop_gained,p.Glu296Ter,ENST00000440310,NM_001099752.1,NM_001099751.1;SYBU,stop_gained,p.Glu301Ter,ENST00000424158,;SYBU,stop_gained,p.Glu295Ter,ENST00000528647,;SYBU,stop_gained,p.Glu296Ter,ENST00000408908,NM_001099748.1,NM_001099747.1;SYBU,stop_gained,p.Glu295Ter,ENST00000446070,;SYBU,stop_gained,p.Glu296Ter,ENST00000276646,NM_001099754.1,NM_001099753.1;SYBU,stop_gained,p.Glu177Ter,ENST00000408889,NM_001099746.1;SYBU,stop_gained,p.Glu228Ter,ENST00000532779,;SYBU,stop_gained,p.Glu90Ter,ENST00000529175,;SYBU,stop_gained,p.Glu177Ter,ENST00000533065,NM_001099755.1;SYBU,stop_gained,p.Glu177Ter,ENST00000528331,NM_001099749.1;SYBU,stop_gained,p.Glu296Ter,ENST00000533171,NM_001099745.1;SYBU,stop_gained,p.Glu166Ter,ENST00000529690,;SYBU,stop_gained,p.Glu133Ter,ENST00000533394,;SYBU,downstream_gene_variant,,ENST00000529190,;SYBU,downstream_gene_variant,,ENST00000532189,;SYBU,downstream_gene_variant,,ENST00000528045,;SYBU,downstream_gene_variant,,ENST00000528569,;SYBU,splice_region_variant,,ENST00000527707,;SYBU,downstream_gene_variant,,ENST00000527664,;SYBU,downstream_gene_variant,,ENST00000532594,;SYBU,downstream_gene_variant,,ENST00000528735,;	uc003ynj.3	c.886G>T	1044/2870	5	2			c.886G>T						8	SNP	c.(886-888)GAA>TAA	47	47			ovary(1)	1	Broad	Golgi-localized syntaphilin-related protein			110588241		0.463	ENSG00000147642	15191	g.chr8:110588241C>A		cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane								65.978699	KEEP	11	15	0.576923077	13	14	11	15	0.576923077	65.996754	13	14	0.48	1	0	0	0	0	0	1	0	0	--	--		0	A			SYBU_uc003yni.3_Nonsense_Mutation_p.E293*|SYBU_uc003ynk.3_Nonsense_Mutation_p.E177*|SYBU_uc010mco.2_Nonsense_Mutation_p.E295*|SYBU_uc003ynl.3_Nonsense_Mutation_p.E295*|SYBU_uc010mcp.2_Nonsense_Mutation_p.E296*|SYBU_uc010mcq.2_Nonsense_Mutation_p.E296*|SYBU_uc003yno.3_Nonsense_Mutation_p.E177*|SYBU_uc010mcr.2_Nonsense_Mutation_p.E296*|SYBU_uc003ynm.3_Nonsense_Mutation_p.E295*|SYBU_uc003ynn.3_Nonsense_Mutation_p.E295*|SYBU_uc010mcs.2_Nonsense_Mutation_p.E177*|SYBU_uc010mct.2_Nonsense_Mutation_p.E296*|SYBU_uc010mcu.2_Nonsense_Mutation_p.E295*|SYBU_uc003ynp.3_Nonsense_Mutation_p.E228*|SYBU_uc010mcv.2_Nonsense_Mutation_p.E296*|SYBU_uc003ynh.3_Nonsense_Mutation_p.E90*|SYBU_uc011lhw.1_Nonsense_Mutation_p.E166*	79	GBM-06-1804-TP	p.E296*	C	ATTTCACTTTCCCTAGAGTGC	NM_001099754	NP_001093224	110588241	Q9NX95	SYBU_HUMAN	0			7	1049	-	A	A			Nonsense_Mutation	296			Potential.|Sufficient for interaction with KIF5B.			
SYBU	55638	broad.mit.edu	GRCh37	8	110587269	110587269	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6389-01	TCGA-06-6389-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000422135.1:c.1858C>T	p.Pro620Ser	p.P620S	ENST00000422135	NM_001099744.1	620	Ccc/Tcc	0			1			A	P/S	uc003ynj.3	protein_coding		CCDS47912.1			1858/1992									ovary(1)	1	c.(1858-1860)CCC>TCC			hmmpanther:PTHR16208,hmmpanther:PTHR16208:SF4,Low_complexity_(Seg):seg	Golgi-localized syntaphilin-related protein				ENSP00000276646		7-Jul										7-Jul	.		ENST00000276646	Transcript				cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		ENSG00000147642	g.chr8:110587269G>A	26011			MODERATE		2.495	medium	getma.org/?cm=msa&ty=f&p=SYBU_HUMAN&rb=3&re=661&var=P620S	NA	getma.org/?cm=var&var=hg19,8,110587269,G,A&fts=all	P620S	--	--	1																																		SYBU_uc003yni.3_Missense_Mutation_p.P617S|SYBU_uc003ynk.3_Missense_Mutation_p.P501S|SYBU_uc010mco.2_Missense_Mutation_p.P619S|SYBU_uc003ynl.3_Missense_Mutation_p.P619S|SYBU_uc010mcp.2_Missense_Mutation_p.P620S|SYBU_uc010mcq.2_Missense_Mutation_p.P620S|SYBU_uc003yno.3_Missense_Mutation_p.P501S|SYBU_uc010mcr.2_Missense_Mutation_p.P620S|SYBU_uc003ynm.3_Missense_Mutation_p.P619S|SYBU_uc003ynn.3_Missense_Mutation_p.P619S|SYBU_uc010mcs.2_Missense_Mutation_p.P501S|SYBU_uc010mct.2_Missense_Mutation_p.P620S|SYBU_uc010mcu.2_Missense_Mutation_p.P619S|SYBU_uc003ynp.3_Missense_Mutation_p.P552S|SYBU_uc010mcv.2_Missense_Mutation_p.P620S|SYBU_uc003ynh.3_Missense_Mutation_p.P414S|SYBU_uc011lhw.1_Missense_Mutation_p.P490S				probably_damaging(1)	p.P620S	NM_001099754	NP_001093224		deleterious(0)		SYBU_HUMAN	SYBU	HGNC	Q9NX95	SYBU_HUMAN			E9PRT7_HUMAN,E9PQG2_HUMAN,E9PPS4_HUMAN,E9PPC2_HUMAN,E9PN31_HUMAN,E9PLB9_HUMAN,E9PL50_HUMAN,E9PK96_HUMAN,E9PJ11_HUMAN,E9PI48_HUMAN,B3KRD1_HUMAN		7	2021	-			UPI00000407AB	620			Helical; (Potential).		SNV	SYBU,missense_variant,p.Pro617Ser,ENST00000399066,NM_001099756.1;SYBU,missense_variant,p.Pro619Ser,ENST00000533895,;SYBU,missense_variant,p.Pro620Ser,ENST00000422135,NM_001099744.1;SYBU,missense_variant,p.Pro619Ser,ENST00000419099,NM_001099743.1;SYBU,missense_variant,p.Pro620Ser,ENST00000433638,NM_017786.5,NM_001099750.1;SYBU,missense_variant,p.Pro620Ser,ENST00000440310,NM_001099752.1,NM_001099751.1;SYBU,missense_variant,p.Pro625Ser,ENST00000424158,;SYBU,missense_variant,p.Pro619Ser,ENST00000528647,;SYBU,missense_variant,p.Pro620Ser,ENST00000408908,NM_001099748.1,NM_001099747.1;SYBU,missense_variant,p.Pro619Ser,ENST00000446070,;SYBU,missense_variant,p.Pro620Ser,ENST00000276646,NM_001099754.1,NM_001099753.1;SYBU,missense_variant,p.Pro501Ser,ENST00000408889,NM_001099746.1;SYBU,missense_variant,p.Pro552Ser,ENST00000532779,;SYBU,missense_variant,p.Pro414Ser,ENST00000529175,;SYBU,missense_variant,p.Pro501Ser,ENST00000533065,NM_001099755.1;SYBU,missense_variant,p.Pro501Ser,ENST00000528331,NM_001099749.1;SYBU,missense_variant,p.Pro620Ser,ENST00000533171,NM_001099745.1;SYBU,missense_variant,p.Pro490Ser,ENST00000529690,;SYBU,downstream_gene_variant,,ENST00000529190,;SYBU,downstream_gene_variant,,ENST00000533394,;SYBU,downstream_gene_variant,,ENST00000532189,;SYBU,downstream_gene_variant,,ENST00000528045,;SYBU,downstream_gene_variant,,ENST00000528569,;SYBU,downstream_gene_variant,,ENST00000527707,;SYBU,downstream_gene_variant,,ENST00000527664,;SYBU,downstream_gene_variant,,ENST00000532594,;SYBU,downstream_gene_variant,,ENST00000528735,;	uc003ynj.3	c.1858C>T	2016/2870	2	2			c.1858C>T						8	SNP	c.(1858-1860)CCC>TCC	21	21			ovary(1)	1	Broad	Golgi-localized syntaphilin-related protein			110587269		0.622	ENSG00000147642	15191	g.chr8:110587269G>A		cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane								23.884053	KEEP	7	13	-1	69	78	7	13	-1	44.620987	69	78	0.121622	1	0	0	0	0	1	0	0	0	--	--		0	A			SYBU_uc003yni.3_Missense_Mutation_p.P617S|SYBU_uc003ynk.3_Missense_Mutation_p.P501S|SYBU_uc010mco.2_Missense_Mutation_p.P619S|SYBU_uc003ynl.3_Missense_Mutation_p.P619S|SYBU_uc010mcp.2_Missense_Mutation_p.P620S|SYBU_uc010mcq.2_Missense_Mutation_p.P620S|SYBU_uc003yno.3_Missense_Mutation_p.P501S|SYBU_uc010mcr.2_Missense_Mutation_p.P620S|SYBU_uc003ynm.3_Missense_Mutation_p.P619S|SYBU_uc003ynn.3_Missense_Mutation_p.P619S|SYBU_uc010mcs.2_Missense_Mutation_p.P501S|SYBU_uc010mct.2_Missense_Mutation_p.P620S|SYBU_uc010mcu.2_Missense_Mutation_p.P619S|SYBU_uc003ynp.3_Missense_Mutation_p.P552S|SYBU_uc010mcv.2_Missense_Mutation_p.P620S|SYBU_uc003ynh.3_Missense_Mutation_p.P414S|SYBU_uc011lhw.1_Missense_Mutation_p.P490S	105	GBM-06-6389-TP	p.P620S	G	AGAACCGTGGGGACCACGGGG	NM_001099754	NP_001093224	110587269	Q9NX95	SYBU_HUMAN	0			7	2021	-	A	A			Missense_Mutation	620			Helical; (Potential).			
SYCE1	0	broad.mit.edu	GRCh37	10	135370273	135370273	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-41-3915-01	TCGA-41-3915-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343131.5:c.518G>T	p.Trp173Leu	p.W173L	ENST00000343131	NM_001143764.1	173	tGg/tTg	0			1			A	W/L	uc001lno.2	protein_coding	YES	CCDS44501.1			518/1056									ovary(1)	1	c.(517-519)TGG>TTG			Pfam_domain:PF15233,hmmpanther:PTHR21731,hmmpanther:PTHR21731:SF0	synaptonemal complex central element protein 1				ENSP00000341282		13-Aug									COSM3397015,COSM3397014	13-Aug	.		ENST00000343131	Transcript			cell division	central element		ENSG00000171772	g.chr10:135370273C>A	28852			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=SYCE1_HUMAN&rb=161&re=350&var=W173L	NA	getma.org/?cm=var&var=hg19,10,135370273,C,A&fts=all	W173L	--	--	1																																		CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Missense_Mutation_p.W45L|SYCE1_uc009ybn.2_Missense_Mutation_p.W173L|SYCE1_uc001lnn.2_Missense_Mutation_p.W137L	1,1	1		benign(0.058)	p.W173L	NM_001143764	NP_001137236		deleterious(0.04)	1,1	SYCE1_HUMAN	SYCE1	HGNC	Q8N0S2	SYCE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)			8	623	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	UPI000013F901	173			Potential.		SNV	SYCE1,missense_variant,p.Trp137Leu,ENST00000368517,NM_130784.2;SYCE1,missense_variant,p.Trp137Leu,ENST00000432597,;SYCE1,missense_variant,p.Trp173Leu,ENST00000343131,NM_001143764.1;SYCE1,missense_variant,p.Trp173Leu,ENST00000303903,NM_001143763.1;SPRN,intron_variant,,ENST00000541506,;CYP2E1,non_coding_transcript_exon_variant,,ENST00000368520,;SYCE1,non_coding_transcript_exon_variant,,ENST00000479535,;	uc001lno.2	c.518G>T	623/1309	2	2			c.518G>T						10	SNP	c.(517-519)TGG>TTG	38	38			ovary(1)	1	Broad	synaptonemal complex central element protein 1			135370273		0.512	ENSG00000171772	15192	g.chr10:135370273C>A	cell division	central element								5.34364	KEEP	2	0	-1	7	6	2	0	-1	6.389479	7	6	0.181818	1	0	0	0	0	1	0	0	0	--	--		0	A			CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Missense_Mutation_p.W45L|SYCE1_uc009ybn.2_Missense_Mutation_p.W173L|SYCE1_uc001lnn.2_Missense_Mutation_p.W137L	256	GBM-41-3915-TP	p.W173L	C	GTGGAAGTCCCAGAGGTCCTT	NM_001143764	NP_001137236	135370273	Q8N0S2	SYCE1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	8	623	-	A	A		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	Missense_Mutation	173			Potential.			
SYCP1	6847	broad.mit.edu	GRCh37	1	115537600	115537601	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-06-0174-01	TCGA-06-0174-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369522.3:c.2901dup	p.Leu968ThrfsTer5	p.L968Tfs*5	ENST00000369522	NM_003176.2	964	aga/agAa	0			1			A	R/RX	uc001efr.2	protein_coding		CCDS879.1			2891-2892/2931									skin(1)	1	c.(2890-2892)AGAfs			hmmpanther:PTHR18878	synaptonemal complex protein 1				ENSP00000358531		32/32									rs748774371,COSM391278	32/32	.		ENST00000369518	Transcript			cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	ENSG00000198765	g.chr1:115537600_115537601insA	11487	10		HIGH								--	--	1																																		SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Frame_Shift_Ins_p.R964fs|SYCP1_uc009wgw.2_Frame_Shift_Ins_p.R939fs	0,1				p.R964fs	NM_003176	NP_003167			0,1	SYCP1_HUMAN	SYCP1	HGNC	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Q5VXJ5_HUMAN		32	3100_3101	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	UPI00001CE3B9	964			Arg/Lys-rich (basic).		insertion	SYCP1,frameshift_variant,p.Leu968ThrfsTer5,ENST00000369522,NM_003176.2,NM_001282541.1;SYCP1,frameshift_variant,p.Leu968ThrfsTer5,ENST00000369518,;SYCP1,non_coding_transcript_exon_variant,,ENST00000477590,;	uc001efr.2	c.2891_2892insA	3064-3065/3452	5	5			c.2891_2892insA						1	INS	c.(2890-2892)AGAfs	52	52			skin(1)	1	Broad	synaptonemal complex protein 1			115537601		0.356	ENSG00000198765	15195	g.chr1:115537600_115537601insA	cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding																				0.05	1	0	0	1	1	0	0	0	0	--	--		0	A			SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Frame_Shift_Ins_p.R964fs|SYCP1_uc009wgw.2_Frame_Shift_Ins_p.R939fs	37	GBM-06-0174-TP	p.R964fs	-	AAAATGGATAGAAAAAAAAAAC	NM_003176	NP_003167	115537600	Q15431	SYCP1_HUMAN	0		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	32	3100_3101	+	A	A	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	Frame_Shift_Ins	964			Arg/Lys-rich (basic).			
SYCP1	0	broad.mit.edu	GRCh37	1	115401212	115401212	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-6174-01	TCGA-26-6174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369518.1:c.336G>A	p.Glu112=	p.E112=	ENST00000369518		112	gaG/gaA	0			1			A	E	uc001efr.2	protein_coding		CCDS879.1			336/2931									skin(1)	1	c.(334-336)GAG>GAA			Pfam_domain:PF05483,hmmpanther:PTHR18878	synaptonemal complex protein 1				ENSP00000358531		Jun-32									COSM3399566	Jun-32	.		ENST00000369518	Transcript			cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	ENSG00000198765	g.chr1:115401212G>A	11487			LOW								--	--	1																																		SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Silent_p.E112E|SYCP1_uc009wgw.2_Silent_p.E112E	1				p.E112E	NM_003176	NP_003167			1	SYCP1_HUMAN	SYCP1	HGNC	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Q5VXJ5_HUMAN		6	545	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	UPI00001CE3B9	112			Potential.		SNV	SYCP1,synonymous_variant,p.=,ENST00000369522,NM_003176.2,NM_001282541.1;SYCP1,synonymous_variant,p.=,ENST00000369518,;SYCP1,synonymous_variant,p.=,ENST00000455987,;SYCP1,non_coding_transcript_exon_variant,,ENST00000477215,;SYCP1,upstream_gene_variant,,ENST00000468191,;	uc001efr.2	c.336G>A	509/3452	2	2			c.336G>A						1	SNP	c.(334-336)GAG>GAA	29	29			skin(1)	1	Broad	synaptonemal complex protein 1			115401212		0.303	ENSG00000198765	15195	g.chr1:115401212G>A	cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding							42.654048	KEEP	10	7	-1	45	34	10	7	-1	48.945217	45	34	0.209877	1	0	0	0	0	0	0	1	0	--	--		0	A			SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Silent_p.E112E|SYCP1_uc009wgw.2_Silent_p.E112E	188	GBM-26-6174-TP	p.E112E	G	TGTATAAGGAGGCTGAAAAGA	NM_003176	NP_003167	115401212	Q15431	SYCP1_HUMAN	0		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	545	+	A	A	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	Silent	112			Potential.			
SYCP2	10388	broad.mit.edu	GRCh37	20	58467047	58467047	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-06-5414-01	TCGA-06-5414-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357552.3:c.2362del	p.Met788Ter	p.M788*	ENST00000357552		788	Atg/tg	0			1			-	M/X	uc002yaz.2	protein_coding	YES	CCDS13482.1			2362/4593									ovary(3)|lung(2)	5	c.(2362-2364)ATGfs			hmmpanther:PTHR15607,hmmpanther:PTHR15607:SF12	synaptonemal complex protein 2				ENSP00000350162		24/45	0.00533	0.00158	0.00187	0.00357	0.000482	0.00505	0.00529	0.00402	rs751916442,COSM253106	24/45	common_variant		ENST00000357552	Transcript			cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	ENSG00000196074	g.chr20:58467047delT	11490			HIGH								--	--	1																																			0,1	1			p.M788fs	NM_014258	NP_055073			0,1	SYCP2_HUMAN	SYCP2	HGNC	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		A2A341_HUMAN		23	2501	-	all_lung(29;0.00344)		UPI0000135683	788					deletion	SYCP2,frameshift_variant,p.Met788Ter,ENST00000357552,;SYCP2,frameshift_variant,p.Met788Ter,ENST00000371001,NM_014258.2;SYCP2,frameshift_variant,p.Met788Ter,ENST00000446834,;	uc002yaz.2	c.2362delA	2588/5567	5	5			c.2362delA						20	DEL	c.(2362-2364)ATGfs	7	7			ovary(3)|lung(2)	5	Broad	synaptonemal complex protein 2			58467047		0.323	ENSG00000196074	15196	g.chr20:58467047delT	cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding																				0.05	1	1	0	1	0	0	0	0	0	--	--		0	-				97	GBM-06-5414-TP	p.M788fs	T	AAGCTCACCATTTTTTTTTGT	NM_014258	NP_055073	58467047	Q9BX26	SYCP2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		23	2501	-	-	-	all_lung(29;0.00344)		Frame_Shift_Del	788						
SYCP2	0	broad.mit.edu	GRCh37	20	58489299	58489299	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-2620-01	TCGA-19-2620-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357552.3:c.642C>A	p.Asp214Glu	p.D214E	ENST00000357552		214	gaC/gaA	0			1			T	D/E	uc002yaz.2	protein_coding	YES	CCDS13482.1			642/4593									ovary(3)|lung(2)	5	c.(640-642)GAC>GAA			hmmpanther:PTHR15607,hmmpanther:PTHR15607:SF12	synaptonemal complex protein 2				ENSP00000350162		Nov-45									COSM3405238	Nov-45	.		ENST00000357552	Transcript			cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	ENSG00000196074	g.chr20:58489299G>T	11490			MODERATE		1.13	low	getma.org/?cm=msa&ty=f&p=SYCP2_HUMAN&rb=1&re=399&var=D214E	NA	getma.org/?cm=var&var=hg19,20,58489299,G,T&fts=all	D214E	--	--	1																																		SYCP2_uc010gju.1_Missense_Mutation_p.D115E	1	1		benign(0.261)	p.D214E	NM_014258	NP_055073		tolerated(0.08)	1	SYCP2_HUMAN	SYCP2	HGNC	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		A2A341_HUMAN		10	781	-	all_lung(29;0.00344)		UPI0000135683	214					SNV	SYCP2,missense_variant,p.Asp214Glu,ENST00000357552,;SYCP2,missense_variant,p.Asp214Glu,ENST00000371001,NM_014258.2;SYCP2,missense_variant,p.Asp214Glu,ENST00000446834,;SYCP2,non_coding_transcript_exon_variant,,ENST00000471331,;SYCP2,upstream_gene_variant,,ENST00000461538,;	uc002yaz.2	c.642C>A	868/5567	2	2			c.642C>A						20	SNP	c.(640-642)GAC>GAA	27	27			ovary(3)|lung(2)	5	Broad	synaptonemal complex protein 2			58489299		0.289	ENSG00000196074	15196	g.chr20:58489299G>T	cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding							24.091834	KEEP	7	1	0.875	9	7	7	1	0.875	24.682332	9	7	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	T			SYCP2_uc010gju.1_Missense_Mutation_p.D115E	162	GBM-19-2620-TP	p.D214E	G	CTACCTGTAAGTCATAATCTA	NM_014258	NP_055073	58489299	Q9BX26	SYCP2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		10	781	-	T	T	all_lung(29;0.00344)		Missense_Mutation	214						
SYCP2	0	broad.mit.edu	GRCh37	20	58471554	58471554	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-27-2526-01	TCGA-27-2526-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357552.3:c.1434T>C	p.Ser478=	p.S478=	ENST00000357552		478	tcT/tcC	0		G:0	1	G:0		G	S	uc002yaz.2	protein_coding	YES	CCDS13482.1			1434/4593									ovary(3)|lung(2)	5	c.(1432-1434)TCT>TCC			hmmpanther:PTHR15607,hmmpanther:PTHR15607:SF12	synaptonemal complex protein 2		G:0		ENSP00000350162	G:0	19/45	0.000255							0.00189	rs555435833,COSM3405237	19/45	common_variant		ENST00000357552	Transcript		G:0.0002	cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	ENSG00000196074	g.chr20:58471554A>G	11490			LOW								--	--	1																																			0,1	1			p.S478S	NM_014258	NP_055073	G:0.001		0,1	SYCP2_HUMAN	SYCP2	HGNC	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		A2A341_HUMAN		18	1573	-	all_lung(29;0.00344)		UPI0000135683	478					SNV	SYCP2,synonymous_variant,p.=,ENST00000357552,;SYCP2,synonymous_variant,p.=,ENST00000371001,NM_014258.2;SYCP2,synonymous_variant,p.=,ENST00000446834,;SYCP2,downstream_gene_variant,,ENST00000461538,;	uc002yaz.2	c.1434T>C	1660/5567	3	3			c.1434T>C						20	SNP	c.(1432-1434)TCT>TCC	62	62			ovary(3)|lung(2)	5	Broad	synaptonemal complex protein 2			58471554		0.313	ENSG00000196074	15196	g.chr20:58471554A>G	cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding							119.989305	KEEP	25	25	-1	53	65	25	25	-1	125.290632	53	65	0.295775	1	0	0	0	0	0	0	1	0	--	--		0	G				203	GBM-27-2526-TP	p.S478S	A	TTGATGCTTCAGACATTTTTC	NM_014258	NP_055073	58471554	Q9BX26	SYCP2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		18	1573	-	G	G	all_lung(29;0.00344)		Silent	478						
SYCP2	10388		GRCh37	20	58444912	58444912	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000357552.3:c.3682C>T	p.Arg1228Trp	p.R1228W	ENST00000357552		1228	Cgg/Tgg	0																																																																																																																																																																																																																																												
SYCP2	10388		GRCh37	20	58467201	58467201	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000357552.3:c.2208G>A	p.Ser736=	p.S736=	ENST00000357552		736	tcG/tcA	0																																																																																																																																																																																																																																												
SYDE2	84144	broad.mit.edu	GRCh37	1	85648703	85648703	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01	TCGA-06-0126-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341460.5:c.1622G>A	p.Arg541Gln	p.R541Q	ENST00000341460	NM_032184.1	541	cGa/cAa	0			1			T	R/Q	uc009wcm.2	protein_coding	YES	CCDS44169.1			1622/3585									ovary(1)|central_nervous_system(1)	2	c.(1621-1623)CGA>CAA			hmmpanther:PTHR23178:SF24,hmmpanther:PTHR23178	synapse defective 1, Rho GTPase, homolog 2				ENSP00000340594		7-Mar	4.14E-05			0.000116		4.50E-05		6.10E-05	rs561704514,COSM3401053,COSM3401052	7-Mar	.		ENST00000341460	Transcript			activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	ENSG00000097096	g.chr1:85648703C>T	25841			MODERATE		2.565	medium	getma.org/?cm=msa&ty=f&p=SYDE2_HUMAN&rb=517&re=716&var=R541Q	NA	getma.org/?cm=var&var=hg19,1,85648703,C,T&fts=all	R541Q	--	--	1																																		SYDE2_uc001dku.3_Missense_Mutation_p.R541Q	0,1,1	1		probably_damaging(0.999)	p.R541Q	NM_032184	NP_115560		deleterious(0)	0,1,1	SYDE2_HUMAN	SYDE2	HGNC	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)			3	1671	-			UPI0001553B04	541					SNV	SYDE2,missense_variant,p.Arg541Gln,ENST00000341460,NM_032184.1;SYDE2,non_coding_transcript_exon_variant,,ENST00000234668,;	uc009wcm.2	c.1622G>A	1672/5512	2	2			c.1622G>A						1	SNP	c.(1621-1623)CGA>CAA	41	41			ovary(1)|central_nervous_system(1)	2	Broad	synapse defective 1, Rho GTPase, homolog 2			85648703		0.338	ENSG00000097096	15200	g.chr1:85648703C>T	activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity							390.939666	KEEP	86	46	-1	116	63	86	46	-1	392.610808	116	63	0.42053	1	0	0	0	0	1	0	0	0	--	--		0	T			SYDE2_uc001dku.3_Missense_Mutation_p.R541Q	13	GBM-06-0126-TP	p.R541Q	C	GCTTAGCTTTCGGCTAAATTC	NM_032184	NP_115560	85648703	Q5VT97	SYDE2_HUMAN	0		all cancers(265;0.0126)|Epithelial(280;0.0336)	3	1671	-	T	T			Missense_Mutation	541						
SYDE2	84144	broad.mit.edu	GRCh37	1	85624652	85624652	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0214-01	TCGA-06-0214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341460.5:c.3366C>T	p.Ile1122=	p.I1122=	ENST00000341460	NM_032184.1	1122	atC/atT	0	A:0.0008		1			A	I	uc009wcm.2	protein_coding	YES	CCDS44169.1			3366/3585									ovary(1)|central_nervous_system(1)	2	c.(3364-3366)ATC>ATT			hmmpanther:PTHR23178:SF24,hmmpanther:PTHR23178	synapse defective 1, Rho GTPase, homolog 2			A:0.0001	ENSP00000340594		7-Jul	0.000166	0.000715	0.000433	0.000116		3.01E-05		0.000303	rs371604572,COSM3401050	7-Jul	common_variant		ENST00000341460	Transcript			activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	ENSG00000097096	g.chr1:85624652G>A	25841			LOW								--	--	1																																			0,1	1			p.I1122I	NM_032184	NP_115560			0,1	SYDE2_HUMAN	SYDE2	HGNC	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)			7	3415	-			UPI0001553B04	1122					SNV	SYDE2,synonymous_variant,p.=,ENST00000341460,NM_032184.1;	uc009wcm.2	c.3366C>T	3416/5512	2	2			c.3366C>T						1	SNP	c.(3364-3366)ATC>ATT	41	41			ovary(1)|central_nervous_system(1)	2	Broad	synapse defective 1, Rho GTPase, homolog 2			85624652		0.363	ENSG00000097096	15200	g.chr1:85624652G>A	activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity							50.400212	KEEP	11	9	-1	26	26	11	9	-1	53.694248	26	26	0.271429	1	0	0	0	0	0	0	1	0	--	--		0	A				50	GBM-06-0214-TP	p.I1122I	G	AATTTTCTCCGATTTTTCTAT	NM_032184	NP_115560	85624652	Q5VT97	SYDE2_HUMAN	0		all cancers(265;0.0126)|Epithelial(280;0.0336)	7	3415	-	A	A			Silent	1122						
SYDE2	84144	broad.mit.edu	GRCh37	1	85656020	85656020	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0750-01	TCGA-06-0750-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341460.5:c.1161G>T	p.Leu387Phe	p.L387F	ENST00000341460	NM_032184.1	387	ttG/ttT	0			1			A	L/F	uc009wcm.2	protein_coding	YES	CCDS44169.1			1161/3585									ovary(1)|central_nervous_system(1)	2	c.(1159-1161)TTG>TTT			hmmpanther:PTHR23178:SF24,hmmpanther:PTHR23178	synapse defective 1, Rho GTPase, homolog 2				ENSP00000340594		7-Feb									COSM3401055,COSM3401054	7-Feb	.		ENST00000341460	Transcript			activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	ENSG00000097096	g.chr1:85656020C>A	25841			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=SYDE2_HUMAN&rb=51&re=516&var=L387F	NA	getma.org/?cm=var&var=hg19,1,85656020,C,A&fts=all	L387F	--	--	1																																		SYDE2_uc001dku.3_Missense_Mutation_p.L387F	1,1	1		benign(0.169)	p.L387F	NM_032184	NP_115560		tolerated_low_confidence(0.21)	1,1	SYDE2_HUMAN	SYDE2	HGNC	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)			2	1210	-			UPI0001553B04	387					SNV	SYDE2,missense_variant,p.Leu387Phe,ENST00000341460,NM_032184.1;SYDE2,non_coding_transcript_exon_variant,,ENST00000234668,;	uc009wcm.2	c.1161G>T	1211/5512	1	1			c.1161G>T						1	SNP	c.(1159-1161)TTG>TTT	57	57			ovary(1)|central_nervous_system(1)	2	Broad	synapse defective 1, Rho GTPase, homolog 2			85656020		0.448	ENSG00000097096	15200	g.chr1:85656020C>A	activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity							7.80955	KEEP	6	3	0.333333333	44	34	6	3	0.333333333	20.427775	44	34	0.108434	1	0	0	0	0	1	0	0	0	--	--		0	A			SYDE2_uc001dku.3_Missense_Mutation_p.L387F	70	GBM-06-0750-TP	p.L387F	C	CACCAAAACTCAAGGCACTTG	NM_032184	NP_115560	85656020	Q5VT97	SYDE2_HUMAN	0		all cancers(265;0.0126)|Epithelial(280;0.0336)	2	1210	-	A	A			Missense_Mutation	387						
SYMPK	8189	broad.mit.edu	GRCh37	19	46345702	46345702	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245934.7:c.893G>A	p.Arg298His	p.R298H	ENST00000245934	NM_004819.2	298	cGt/cAt	0			1			T	R/H	uc002pdn.2	protein_coding	YES	CCDS12676.2			893/3825									ovary(1)	1	c.(892-894)CGT>CAT			hmmpanther:PTHR15245,hmmpanther:PTHR15245:SF20,Pfam_domain:PF11935	symplekin				ENSP00000245934		27-Sep									COSM3404396	27-Sep	.		ENST00000245934	Transcript			cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	ENSG00000125755	g.chr19:46345702C>T	22935			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=SYMPK_HUMAN&rb=117&re=354&var=R298H	getma.org/pdb.php?prot=SYMPK_HUMAN&from=117&to=354&var=R298H	getma.org/?cm=var&var=hg19,19,46345702,C,T&fts=all	R298H	--	--	1																																		SYMPK_uc002pdo.1_Missense_Mutation_p.R298H|SYMPK_uc002pdp.1_Missense_Mutation_p.R298H|SYMPK_uc002pdq.1_Missense_Mutation_p.R298H	1	1		probably_damaging(0.999)	p.R298H	NM_004819	NP_004810		deleterious(0)	1	SYMPK_HUMAN	SYMPK	HGNC	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	M0R1C2_HUMAN,M0R180_HUMAN,M0R039_HUMAN,M0QXP5_HUMAN		9	1138	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	UPI00002026C0	298					SNV	SYMPK,missense_variant,p.Arg298His,ENST00000245934,NM_004819.2;SYMPK,non_coding_transcript_exon_variant,,ENST00000596518,;SYMPK,non_coding_transcript_exon_variant,,ENST00000593899,;SYMPK,missense_variant,p.Arg298His,ENST00000600237,;SYMPK,non_coding_transcript_exon_variant,,ENST00000599814,;SYMPK,non_coding_transcript_exon_variant,,ENST00000599460,;SYMPK,non_coding_transcript_exon_variant,,ENST00000593504,;SYMPK,non_coding_transcript_exon_variant,,ENST00000598896,;SYMPK,non_coding_transcript_exon_variant,,ENST00000601582,;	uc002pdn.2	c.893G>A	1138/4195	1	1			c.893G>A						19	SNP	c.(892-894)CGT>CAT	9	9			ovary(1)	1	Broad	symplekin			46345702		0.592	ENSG00000125755	15203	g.chr19:46345702C>T	cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding							287.438484	KEEP	35	64	-1	15	22	35	64	-1	293.166954	15	22	0.731092	1	0	0	0	0	1	0	0	0	--	--		0	T			SYMPK_uc002pdo.1_Missense_Mutation_p.R298H|SYMPK_uc002pdp.1_Missense_Mutation_p.R298H|SYMPK_uc002pdq.1_Missense_Mutation_p.R298H	102	GBM-06-5858-TP	p.R298H	C	CAGATTCTTACGCACACTGCT	NM_004819	NP_004810	46345702	Q92797	SYMPK_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	9	1138	-	T	T		all_neural(266;0.0299)|Ovarian(192;0.0308)	Missense_Mutation	298						
SYMPK	0	broad.mit.edu	GRCh37	19	46338456	46338456	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01	TCGA-19-2631-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245934.7:c.1273G>A	p.Ala425Thr	p.A425T	ENST00000245934	NM_004819.2	425	Gcc/Acc	0			1			T	A/T	uc002pdn.2	protein_coding	YES	CCDS12676.2			1273/3825									ovary(1)	1	c.(1273-1275)GCC>ACC			hmmpanther:PTHR15245,hmmpanther:PTHR15245:SF20	symplekin				ENSP00000245934		27-Nov									COSM2156370	27-Nov	.		ENST00000245934	Transcript			cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	ENSG00000125755	g.chr19:46338456C>T	22935			MODERATE		-1.04	neutral	getma.org/?cm=msa&ty=f&p=SYMPK_HUMAN&rb=355&re=554&var=A425T	NA	getma.org/?cm=var&var=hg19,19,46338456,C,T&fts=all	A425T	--	--	1																																		SYMPK_uc002pdo.1_Missense_Mutation_p.A425T|SYMPK_uc002pdp.1_Missense_Mutation_p.A425T|SYMPK_uc002pdq.1_Missense_Mutation_p.A425T	1	1		benign(0)	p.A425T	NM_004819	NP_004810		tolerated(1)	1	SYMPK_HUMAN	SYMPK	HGNC	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	M0R1C2_HUMAN,M0R180_HUMAN,M0R039_HUMAN,M0QXP5_HUMAN		11	1518	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	UPI00002026C0	425					SNV	SYMPK,missense_variant,p.Ala425Thr,ENST00000245934,NM_004819.2;AC092301.3,downstream_gene_variant,,ENST00000601618,;SYMPK,non_coding_transcript_exon_variant,,ENST00000593899,;SYMPK,downstream_gene_variant,,ENST00000596518,;SYMPK,missense_variant,p.Ala425Thr,ENST00000600237,;SYMPK,non_coding_transcript_exon_variant,,ENST00000599814,;SYMPK,non_coding_transcript_exon_variant,,ENST00000599460,;SYMPK,non_coding_transcript_exon_variant,,ENST00000593504,;SYMPK,non_coding_transcript_exon_variant,,ENST00000598896,;SYMPK,downstream_gene_variant,,ENST00000601582,;	uc002pdn.2	c.1273G>A	1518/4195	2	2			c.1273G>A						19	SNP	c.(1273-1275)GCC>ACC	32	32			ovary(1)	1	Broad	symplekin			46338456		0.498	ENSG00000125755	15203	g.chr19:46338456C>T	cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding							104.741211	KEEP	17	33	-1	58	61	17	33	-1	109.317772	58	61	0.30303	1	0	0	0	0	1	0	0	0	--	--		0	T			SYMPK_uc002pdo.1_Missense_Mutation_p.A425T|SYMPK_uc002pdp.1_Missense_Mutation_p.A425T|SYMPK_uc002pdq.1_Missense_Mutation_p.A425T	167	GBM-19-2631-TP	p.A425T	C	GCTGGCATGGCCTCGGGTAGG	NM_004819	NP_004810	46338456	Q92797	SYMPK_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	11	1518	-	T	T		all_neural(266;0.0299)|Ovarian(192;0.0308)	Missense_Mutation	425						
SYN1	6853		GRCh37	X	47478794	47478794	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000295987.7:c.334G>C	p.Ala112Pro	p.A112P	ENST00000295987	NM_006950.3	112	Gcc/Ccc	0																																																																																																																																																																																																																																												
SYN3	8224	broad.mit.edu	GRCh37	22	32924868	32924868	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358763.2:c.1223G>A	p.Arg408Lys	p.R408K	ENST00000358763	NM_001135774.1	408	aGa/aAa	0			1			T	R/K	uc003amx.2	protein_coding	YES	CCDS13908.1			1223/1743									skin(1)	1	c.(1222-1224)AGA>AAA			hmmpanther:PTHR10841	synapsin III isoform IIIa				ENSP00000351614		14-Nov									COSM2149618	14-Nov	.		ENST00000358763	Transcript			neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	ENSG00000185666	g.chr22:32924868C>T	11496			MODERATE		1.265	low	getma.org/?cm=msa&ty=f&p=SYN3_HUMAN&rb=401&re=490&var=R408K	NA	getma.org/?cm=var&var=hg19,22,32924868,C,T&fts=all	R408K	--	--	1																																OREG0026488	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	SYN3_uc003amy.2_Missense_Mutation_p.R408K|SYN3_uc003amz.2_Missense_Mutation_p.R407K|SYN3_uc011amc.1_Missense_Mutation_p.R42K	1	1		unknown(0)	p.R408K	NM_003490	NP_003481		tolerated(0.17)	1	SYN3_HUMAN	SYN3	HGNC	O14994	SYN3_HUMAN			Q4TT46_HUMAN,Q17R54_HUMAN,A6ZJ82_HUMAN		10	1382	-			UPI00001365D3	408			J; Pro-rich linker.		SNV	SYN3,missense_variant,p.Arg408Lys,ENST00000358763,NM_001135774.1;SYN3,missense_variant,p.Arg408Lys,ENST00000332840,NM_003490.3,NM_133633.2;SYN3,non_coding_transcript_exon_variant,,ENST00000459990,;SYN3,non_coding_transcript_exon_variant,,ENST00000468922,;SYN3,non_coding_transcript_exon_variant,,ENST00000483062,;SYN3,non_coding_transcript_exon_variant,,ENST00000461446,;	uc003amx.2	c.1223G>A	1466/3126	1	1			c.1223G>A						22	SNP	c.(1222-1224)AGA>AAA	1	1			skin(1)	1	Broad	synapsin III isoform IIIa			32924868		0.572	ENSG00000185666	15206	g.chr22:32924868C>T	neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			35			35	84.116205	KEEP	18	12	-1	21	14	18	12	-1	84.291358	21	14	0.442623	1	0	0	0	0	1	0	0	0	--	--		0	T	OREG0026488	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	SYN3_uc003amy.2_Missense_Mutation_p.R408K|SYN3_uc003amz.2_Missense_Mutation_p.R407K|SYN3_uc011amc.1_Missense_Mutation_p.R42K	18	GBM-06-0137-TP	p.R408K	C	TACCCAAGGTCTGAGGGGGGA	NM_003490	NP_003481	32924868	O14994	SYN3_HUMAN	0			10	1382	-	T	T			Missense_Mutation	408			J; Pro-rich linker.			
SYN3	8224	broad.mit.edu	GRCh37	22	32909719	32909719	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01	TCGA-06-0174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358763.2:c.1703G>A	p.Arg568His	p.R568H	ENST00000358763	NM_001135774.1	568	cGc/cAc	0			1			T	R/H	uc003amx.2	protein_coding	YES	CCDS13908.1			1703/1743									skin(1)	1	c.(1702-1704)CGC>CAC			hmmpanther:PTHR10841	synapsin III isoform IIIa				ENSP00000351614		14/14	3.29E-05					6.00E-05			rs753833714,COSM175040	14/14	.		ENST00000358763	Transcript			neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	ENSG00000185666	g.chr22:32909719C>T	11496			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=SYN3_HUMAN&rb=491&re=580&var=R568H	NA	getma.org/?cm=var&var=hg19,22,32909719,C,T&fts=all	R568H	--	--	1																																		SYN3_uc003amy.2_3'UTR|SYN3_uc003amz.2_Missense_Mutation_p.R567H	0,1	1		probably_damaging(0.998)	p.R568H	NM_003490	NP_003481		deleterious(0)	0,1	SYN3_HUMAN	SYN3	HGNC	O14994	SYN3_HUMAN			Q4TT46_HUMAN,Q17R54_HUMAN,A6ZJ82_HUMAN		13	1862	-			UPI00001365D3	568			E.		SNV	SYN3,missense_variant,p.Arg568His,ENST00000358763,NM_001135774.1;SYN3,missense_variant,p.Arg568His,ENST00000332840,NM_003490.3,NM_133633.2;SYN3,non_coding_transcript_exon_variant,,ENST00000467095,;SYN3,downstream_gene_variant,,ENST00000459990,;SYN3,downstream_gene_variant,,ENST00000468922,;SYN3,non_coding_transcript_exon_variant,,ENST00000483062,;SYN3,downstream_gene_variant,,ENST00000461446,;	uc003amx.2	c.1703G>A	1946/3126	1	1			c.1703G>A						22	SNP	c.(1702-1704)CGC>CAC	8	8			skin(1)	1	Broad	synapsin III isoform IIIa			32909719		0.572	ENSG00000185666	15206	g.chr22:32909719C>T	neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			35			35	124.858841	KEEP	26	26	-1	46	54	26	26	-1	127.85909	46	54	0.338462	1	0	0	0	0	1	0	0	0	--	--		0	T			SYN3_uc003amy.2_3'UTR|SYN3_uc003amz.2_Missense_Mutation_p.R567H	37	GBM-06-0174-TP	p.R568H	C	CCTCAGGTTGCGGATGGTTTC	NM_003490	NP_003481	32909719	O14994	SYN3_HUMAN	0			13	1862	-	T	T			Missense_Mutation	568			E.			
SYN3	8224	broad.mit.edu	GRCh37	22	33402361	33402361	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0747-01	TCGA-06-0747-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358763.2:c.287T>C	p.Val96Ala	p.V96A	ENST00000358763	NM_001135774.1	96	gTg/gCg	0			1			G	V/A	uc003amx.2	protein_coding	YES	CCDS13908.1			287/1743									skin(1)	1	c.(286-288)GTG>GCG			hmmpanther:PTHR10841,Gene3D:3.40.50.20,Pfam_domain:PF02078,Superfamily_domains:SSF52440	synapsin III isoform IIIa				ENSP00000351614		14-Feb									COSM2151864	14-Feb	.		ENST00000358763	Transcript			neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	ENSG00000185666	g.chr22:33402361A>G	11496			MODERATE		2.895	medium	getma.org/?cm=msa&ty=f&p=SYN3_HUMAN&rb=87&re=191&var=V96A	getma.org/pdb.php?prot=SYN3_HUMAN&from=87&to=191&var=V96A	getma.org/?cm=var&var=hg19,22,33402361,A,G&fts=all	V96A	--	--	1																																		SYN3_uc003amy.2_Missense_Mutation_p.V96A|SYN3_uc003amz.2_Missense_Mutation_p.V96A	1	1		unknown(0)	p.V96A	NM_003490	NP_003481		deleterious(0)	1	SYN3_HUMAN	SYN3	HGNC	O14994	SYN3_HUMAN			Q4TT46_HUMAN,Q17R54_HUMAN,A6ZJ82_HUMAN		1	446	-			UPI00001365D3	96			C; actin-binding and synaptic-vesicle binding.		SNV	SYN3,missense_variant,p.Val96Ala,ENST00000358763,NM_001135774.1;SYN3,missense_variant,p.Val96Ala,ENST00000332840,NM_003490.3,NM_133633.2;SYN3,missense_variant,p.Val96Ala,ENST00000441821,;SYN3,missense_variant,p.Val96Ala,ENST00000412575,;	uc003amx.2	c.287T>C	530/3126	4	4			c.287T>C						22	SNP	c.(286-288)GTG>GCG	32	32			skin(1)	1	Broad	synapsin III isoform IIIa			33402361		0.547	ENSG00000185666	15206	g.chr22:33402361A>G	neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			35			35	230.468962	KEEP	54	30	-1	11	11	54	30	-1	237.3804	11	11	0.797619	1	0	0	0	0	1	0	0	0	--	--		0	G			SYN3_uc003amy.2_Missense_Mutation_p.V96A|SYN3_uc003amz.2_Missense_Mutation_p.V96A	68	GBM-06-0747-TP	p.V96A	A	ATCATCGATCACCAACAGGAT	NM_003490	NP_003481	33402361	O14994	SYN3_HUMAN	0			1	446	-	G	G			Missense_Mutation	96			C; actin-binding and synaptic-vesicle binding.			
SYNDIG1	79953	broad.mit.edu	GRCh37	20	24565630	24565630	+	splice_donor_variant	Splice_Site	SNP	G	G	A			TCGA-06-0157-01	TCGA-06-0157-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376862.3:c.618+1G>A		p.X206_splice	ENST00000376862	NM_024893.2	206		0			1			A		uc002wtw.1	protein_coding	YES	CCDS13164.1			618/777										0	c.e3+1				transmembrane protein 90B				ENSP00000366058											COSM2150084		.		ENST00000376862	Transcript			response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		ENSG00000101463	g.chr20:24565630G>A	15885			HIGH	3-Mar							--	--	1																																			1	1			p.E206_splice	NM_024893	NP_079169			1	SYNG1_HUMAN	SYNDIG1	HGNC	Q9H7V2	SYNG1_HUMAN					3	1251	+			UPI00001285DC						SNV	SYNDIG1,splice_donor_variant,,ENST00000376862,NM_024893.2;SYNDIG1,splice_donor_variant,,ENST00000482637,;	uc002wtw.1	c.618_splice	-/2522	5	1			c.618_splice						20	SNP	c.e3+1	55	55				0	Broad	transmembrane protein 90B			24565630		0.627	ENSG00000101463	15969	g.chr20:24565630G>A	response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane								333.406654	KEEP	67	66	-1	88	58	67	66	-1	333.45347	88	58	0.484716	1	0	0	0	0	0	0	0	1	--	--		0	A				28	GBM-06-0157-TP	p.E206_splice	G	GTCCCATGAGGTAAGGCCTCC	NM_024893	NP_079169	24565630	Q9H7V2	SYNG1_HUMAN	0			3	1251	+	A	A			Splice_Site							
SYNE1	23345	broad.mit.edu	GRCh37	6	152665261	152665261	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs4645434	byFrequency;by1000genomes	TCGA-06-0178-01	TCGA-06-0178-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367255.5:c.12180G>T	p.Glu4060Asp	p.E4060D	ENST00000367255	NM_182961.3	4060	gaG/gaT	0	A:0.4687	A:0.4138	1	A:0.6182		A	E/D	uc010kiw.2	protein_coding	YES	CCDS5236.2			12180/26394						likely_benign		p.E4060D(1)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45	c.(12178-12180)GAG>GAT			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,Superfamily_domains:SSF46966	spectrin repeat containing, nuclear envelope 1		A:0.6488	A:0.6178	ENSP00000356224	A:0.6024	74/146	0.576	0.447	0.597	0.642	0.545	0.603	0.577	0.512	rs4645434,COSM42924,COSM136573,COSM3748319,COSM1441465,COSM3748318	74/146	common_variant		ENST00000367255	Transcript	1	C:0.4545	cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	ENSG00000131018	g.chr6:152665261C>A	17089			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=SYNE1_HUMAN&rb=3920&re=4119&var=E4060D	NA	getma.org/?cm=var&var=hg19,6,152665261,C,A&fts=all	E4060D	--	--	1				HNSCC(10;0.0054)																														SYNE1_uc003qot.3_Missense_Mutation_p.E3989D|SYNE1_uc003qou.3_Missense_Mutation_p.E4060D|SYNE1_uc010kja.1_Missense_Mutation_p.E765D	1,1,1,1,1,1	1		benign(0.021)	p.E4060D	NM_182961	NP_892006	A:0.5072		0,1,1,1,1,1	SYNE1_HUMAN	SYNE1	HGNC	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)			74	12782	-		Ovarian(120;0.0955)	UPI000204AF58	4060			Cytoplasmic (Potential).		SNV	SYNE1,missense_variant,p.Glu4060Asp,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Glu4060Asp,ENST00000265368,;SYNE1,missense_variant,p.Glu3989Asp,ENST00000448038,;SYNE1,missense_variant,p.Glu3989Asp,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Glu3925Asp,ENST00000341594,;SYNE1,non_coding_transcript_exon_variant,,ENST00000471834,;	uc010kiw.2	c.12180G>T	12782/27748	1	1			c.12180G>T						6	SNP	c.(12178-12180)GAG>GAT	51	51		p.E4060D(1)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45	Broad	spectrin repeat containing, nuclear envelope 1			152665261		0.453	ENSG00000131018	15209	g.chr6:152665261C>A	cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding							178.07123	KEEP	31	30	0.491803279	34	24	31	30	0.491803279	178.07885	34	24	0.508929	1	0	0	0	0	1	0	0	0	--	--	HNSCC(10;0.0054)	0	A			SYNE1_uc003qot.3_Missense_Mutation_p.E3989D|SYNE1_uc003qou.3_Missense_Mutation_p.E4060D|SYNE1_uc010kja.1_Missense_Mutation_p.E765D	38	GBM-06-0178-TP	p.E4060D	C	GAGGACTTGGCTCTAAATCCG	NM_182961	NP_892006	152665261	Q8NF91	SYNE1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	74	12782	-	A	A		Ovarian(120;0.0955)	Missense_Mutation	4060			Cytoplasmic (Potential).			
SYNE1	23345	broad.mit.edu	GRCh37	6	152644693	152644693	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0195-01	TCGA-06-0195-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367255.5:c.15837C>T	p.Leu5279=	p.L5279=	ENST00000367255	NM_182961.3	5279	ctC/ctT	0			1			A	L	uc010kiw.2	protein_coding	YES	CCDS5236.2			15837/26394									central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45	c.(15835-15837)CTC>CTT			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin repeat containing, nuclear envelope 1				ENSP00000356224		82/146									COSM3410676,COSM3410675,COSM3410679,COSM3410677,COSM3410678	82/146	.		ENST00000367255	Transcript	1		cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	ENSG00000131018	g.chr6:152644693G>A	17089			LOW								--	--	1				HNSCC(10;0.0054)																														SYNE1_uc003qot.3_Silent_p.L5208L|SYNE1_uc003qou.3_Silent_p.L5279L|SYNE1_uc010kiz.2_Silent_p.L1034L	1,1,1,1,1	1			p.L5279L	NM_182961	NP_892006			1,1,1,1,1	SYNE1_HUMAN	SYNE1	HGNC	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)			82	16439	-		Ovarian(120;0.0955)	UPI000204AF58	5279			Cytoplasmic (Potential).		SNV	SYNE1,synonymous_variant,p.=,ENST00000367255,NM_182961.3;SYNE1,synonymous_variant,p.=,ENST00000265368,;SYNE1,synonymous_variant,p.=,ENST00000448038,;SYNE1,synonymous_variant,p.=,ENST00000423061,NM_033071.3;SYNE1,synonymous_variant,p.=,ENST00000341594,;SYNE1,non_coding_transcript_exon_variant,,ENST00000490135,;	uc010kiw.2	c.15837C>T	16439/27748	2	2			c.15837C>T						6	SNP	c.(15835-15837)CTC>CTT	36	36			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45	Broad	spectrin repeat containing, nuclear envelope 1			152644693		0.567	ENSG00000131018	15209	g.chr6:152644693G>A	cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding							147.337512	KEEP	31	26	-1	32	30	31	26	-1	147.499082	32	30	0.458716	1	0	0	0	0	0	0	1	0	--	--	HNSCC(10;0.0054)	0	A			SYNE1_uc003qot.3_Silent_p.L5208L|SYNE1_uc003qou.3_Silent_p.L5279L|SYNE1_uc010kiz.2_Silent_p.L1034L	45	GBM-06-0195-TP	p.L5279L	G	CTCCATCCTGGAGCATGCTCA	NM_182961	NP_892006	152644693	Q8NF91	SYNE1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	82	16439	-	A	A		Ovarian(120;0.0955)	Silent	5279			Cytoplasmic (Potential).			
SYNE1	23345	broad.mit.edu	GRCh37	6	152461284	152461284	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01	TCGA-06-0645-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367255.5:c.25259G>A	p.Arg8420Gln	p.R8420Q	ENST00000367255	NM_182961.3	8420	cGa/cAa	0			1			T	R/Q	uc010kiw.2	protein_coding	YES	CCDS5236.2			25259/26394									central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45	c.(25258-25260)CGA>CAA			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267	spectrin repeat containing, nuclear envelope 1				ENSP00000356224		140/146									rs556231915,COSM3410667,COSM3410666,COSM3410670,COSM3410668,COSM3410669	140/146	.		ENST00000367255	Transcript	1		cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	ENSG00000131018	g.chr6:152461284C>T	17089			MODERATE		2.915	medium	getma.org/?cm=msa&ty=f&p=SYNE1_HUMAN&rb=8383&re=8469&var=R8420Q	NA	getma.org/?cm=var&var=hg19,6,152461284,C,T&fts=all	R8420Q	--	--	1				HNSCC(10;0.0054)																														SYNE1_uc010kiv.2_Missense_Mutation_p.R2944Q|SYNE1_uc003qos.3_Missense_Mutation_p.R2944Q|SYNE1_uc003qot.3_Missense_Mutation_p.R8372Q|SYNE1_uc003qou.3_Missense_Mutation_p.R8420Q|SYNE1_uc003qop.3_Missense_Mutation_p.R605Q|SYNE1_uc011eez.1_Missense_Mutation_p.R622Q|SYNE1_uc003qoq.3_Missense_Mutation_p.R622Q|SYNE1_uc003qor.3_Missense_Mutation_p.R1343Q	0,1,1,1,1,1	1		probably_damaging(0.993)	p.R8420Q	NM_182961	NP_892006			0,1,1,1,1,1	SYNE1_HUMAN	SYNE1	HGNC	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)			140	25861	-		Ovarian(120;0.0955)	UPI000204AF58	8420			Cytoplasmic (Potential).		SNV	SYNE1,missense_variant,p.Arg8420Gln,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Arg8420Gln,ENST00000265368,;SYNE1,missense_variant,p.Arg8372Gln,ENST00000448038,;SYNE1,missense_variant,p.Arg8372Gln,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Arg8032Gln,ENST00000341594,;SYNE1,missense_variant,p.Arg2944Gln,ENST00000356820,;SYNE1,missense_variant,p.Arg1365Gln,ENST00000367251,;SYNE1,missense_variant,p.Arg1066Gln,ENST00000367257,;SYNE1,missense_variant,p.Arg575Gln,ENST00000539504,;SYNE1,missense_variant,p.Arg598Gln,ENST00000354674,;SYNE1,non_coding_transcript_exon_variant,,ENST00000347037,;SYNE1,non_coding_transcript_exon_variant,,ENST00000460912,;SYNE1,non_coding_transcript_exon_variant,,ENST00000536990,;SYNE1,non_coding_transcript_exon_variant,,ENST00000367256,;SYNE1,non_coding_transcript_exon_variant,,ENST00000409694,;SYNE1,non_coding_transcript_exon_variant,,ENST00000478916,;	uc010kiw.2	c.25259G>A	25861/27748	2	2			c.25259G>A						6	SNP	c.(25258-25260)CGA>CAA	25	25			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45	Broad	spectrin repeat containing, nuclear envelope 1			152461284		0.458	ENSG00000131018	15209	g.chr6:152461284C>T	cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding							-16.659395	KEEP	1	6	-1	66	80	1	6	-1	12.47073	66	80	0.045455	1	0	0	0	0	1	0	0	0	--	--	HNSCC(10;0.0054)	0	T			SYNE1_uc010kiv.2_Missense_Mutation_p.R2944Q|SYNE1_uc003qos.3_Missense_Mutation_p.R2944Q|SYNE1_uc003qot.3_Missense_Mutation_p.R8372Q|SYNE1_uc003qou.3_Missense_Mutation_p.R8420Q|SYNE1_uc003qop.3_Missense_Mutation_p.R605Q|SYNE1_uc011eez.1_Missense_Mutation_p.R622Q|SYNE1_uc003qoq.3_Missense_Mutation_p.R622Q|SYNE1_uc003qor.3_Missense_Mutation_p.R1343Q	59	GBM-06-0645-TP	p.R8420Q	C	AAGCTCCCATCGGTCAATCAC	NM_182961	NP_892006	152461284	Q8NF91	SYNE1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	140	25861	-	T	T		Ovarian(120;0.0955)	Missense_Mutation	8420			Cytoplasmic (Potential).			
SYNE1	23345	broad.mit.edu	GRCh37	6	152461140	152461140	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs143049227		TCGA-06-0876-01	TCGA-06-0876-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367255.5:c.25403G>A	p.Arg8468His	p.R8468H	ENST00000367255	NM_182961.3	8468	cGt/cAt	0	T:0.0002		1			T	R/H	uc010kiw.2	protein_coding	YES	CCDS5236.2			25403/26394								p.R8468H(1)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45	c.(25402-25404)CGT>CAT			Gene3D:1.20.58.60,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,Low_complexity_(Seg):seg,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin repeat containing, nuclear envelope 1			T:0.0001	ENSP00000356224		140/146	0.000189	0.000192			0.000454	0.000195	0.0022	0.000182	rs143049227,COSM33609,COSM164734,COSM3393864,COSM1441248,COSM3393863	140/146	common_variant		ENST00000367255	Transcript	1		cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	ENSG00000131018	g.chr6:152461140C>T	17089			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=SYNE1_HUMAN&rb=8440&re=8547&var=R8468H	NA	getma.org/?cm=var&var=hg19,6,152461140,C,T&fts=all	R8468H	--	--	1				HNSCC(10;0.0054)																														SYNE1_uc010kiv.2_Missense_Mutation_p.R2992H|SYNE1_uc003qos.3_Missense_Mutation_p.R2992H|SYNE1_uc003qot.3_Missense_Mutation_p.R8420H|SYNE1_uc003qou.3_Missense_Mutation_p.R8468H|SYNE1_uc003qop.3_Missense_Mutation_p.R653H|SYNE1_uc011eez.1_Missense_Mutation_p.R670H|SYNE1_uc003qoq.3_Missense_Mutation_p.R670H|SYNE1_uc003qor.3_Missense_Mutation_p.R1391H	0,1,1,1,1,1	1		benign(0.009)	p.R8468H	NM_182961	NP_892006			0,1,1,1,1,1	SYNE1_HUMAN	SYNE1	HGNC	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)			140	26005	-		Ovarian(120;0.0955)	UPI000204AF58	8468		R -> H (in a colorectal cancer sample; somatic mutation).	Cytoplasmic (Potential).|Spectrin 31.		SNV	SYNE1,missense_variant,p.Arg8468His,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Arg8468His,ENST00000265368,;SYNE1,missense_variant,p.Arg8420His,ENST00000448038,;SYNE1,missense_variant,p.Arg8420His,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Arg8080His,ENST00000341594,;SYNE1,missense_variant,p.Arg2992His,ENST00000356820,;SYNE1,missense_variant,p.Arg1413His,ENST00000367251,;SYNE1,missense_variant,p.Arg1114His,ENST00000367257,;SYNE1,missense_variant,p.Arg623His,ENST00000539504,;SYNE1,missense_variant,p.Arg646His,ENST00000354674,;SYNE1,non_coding_transcript_exon_variant,,ENST00000347037,;SYNE1,non_coding_transcript_exon_variant,,ENST00000460912,;SYNE1,non_coding_transcript_exon_variant,,ENST00000536990,;SYNE1,non_coding_transcript_exon_variant,,ENST00000367256,;SYNE1,non_coding_transcript_exon_variant,,ENST00000409694,;SYNE1,non_coding_transcript_exon_variant,,ENST00000478916,;	uc010kiw.2	c.25403G>A	26005/27748	1	1			c.25403G>A						6	SNP	c.(25402-25404)CGT>CAT	13	13		p.R8468H(1)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45	Broad	spectrin repeat containing, nuclear envelope 1			152461140		0.557	ENSG00000131018	15209	g.chr6:152461140C>T	cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding							118.081688	KEEP	33	16	-1	53	39	33	16	-1	120.426479	53	39	0.352459	1	0	0	0	0	1	0	0	0	--	--	HNSCC(10;0.0054)	0	T			SYNE1_uc010kiv.2_Missense_Mutation_p.R2992H|SYNE1_uc003qos.3_Missense_Mutation_p.R2992H|SYNE1_uc003qot.3_Missense_Mutation_p.R8420H|SYNE1_uc003qou.3_Missense_Mutation_p.R8468H|SYNE1_uc003qop.3_Missense_Mutation_p.R653H|SYNE1_uc011eez.1_Missense_Mutation_p.R670H|SYNE1_uc003qoq.3_Missense_Mutation_p.R670H|SYNE1_uc003qor.3_Missense_Mutation_p.R1391H	72	GBM-06-0876-TP	p.R8468H	C	GAGTTCCAGACGCTGGAGCTG	NM_182961	NP_892006	152461140	Q8NF91	SYNE1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	140	26005	-	T	T		Ovarian(120;0.0955)	Missense_Mutation	8468		R -> H (in a colorectal cancer sample; somatic mutation).	Cytoplasmic (Potential).|Spectrin 31.			
SYNE1	23345	broad.mit.edu	GRCh37	6	152652051	152652051	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-2558-01	TCGA-06-2558-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367255.5:c.13769A>G	p.Asn4590Ser	p.N4590S	ENST00000367255	NM_182961.3	4590	aAc/aGc	0		C:0	1	C:0		C	N/S	uc010kiw.2	protein_coding	YES	CCDS5236.2			13769/26394									central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45	c.(13768-13770)AAC>AGC			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin repeat containing, nuclear envelope 1		C:0.001		ENSP00000356224	C:0	78/146	0.000346			0.00428				0.000303	rs199827801,COSM2152616,COSM2152615,COSM3410681,COSM2152617,COSM3410680	78/146	common_variant		ENST00000367255	Transcript	1	C:0.0002	cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	ENSG00000131018	g.chr6:152652051T>C	17089			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=SYNE1_HUMAN&rb=4520&re=4719&var=N4590S	NA	getma.org/?cm=var&var=hg19,6,152652051,T,C&fts=all	N4590S	--	--	1				HNSCC(10;0.0054)																														SYNE1_uc003qot.3_Missense_Mutation_p.N4519S|SYNE1_uc003qou.3_Missense_Mutation_p.N4590S|SYNE1_uc010kiz.2_Missense_Mutation_p.N345S	0,1,1,1,1,1	1		possibly_damaging(0.504)	p.N4590S	NM_182961	NP_892006	C:0		0,1,1,1,1,1	SYNE1_HUMAN	SYNE1	HGNC	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)			78	14371	-		Ovarian(120;0.0955)	UPI000204AF58	4590			Potential.|Cytoplasmic (Potential).		SNV	SYNE1,missense_variant,p.Asn4590Ser,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Asn4590Ser,ENST00000265368,;SYNE1,missense_variant,p.Asn4519Ser,ENST00000448038,;SYNE1,missense_variant,p.Asn4519Ser,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Asn4337Ser,ENST00000341594,;SYNE1,non_coding_transcript_exon_variant,,ENST00000490135,;SYNE1,downstream_gene_variant,,ENST00000471834,;	uc010kiw.2	c.13769A>G	14371/27748	3	3			c.13769A>G						6	SNP	c.(13768-13770)AAC>AGC	12	12			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45	Broad	spectrin repeat containing, nuclear envelope 1			152652051		0.353	ENSG00000131018	15209	g.chr6:152652051T>C	cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding							449.717685	KEEP	71	72	-1	110	133	71	72	-1	455.471436	110	133	0.363636	1	0	0	0	0	1	0	0	0	--	--	HNSCC(10;0.0054)	0	C			SYNE1_uc003qot.3_Missense_Mutation_p.N4519S|SYNE1_uc003qou.3_Missense_Mutation_p.N4590S|SYNE1_uc010kiz.2_Missense_Mutation_p.N345S	82	GBM-06-2558-TP	p.N4590S	T	ATTCATTAGGTTGATTTCAGG	NM_182961	NP_892006	152652051	Q8NF91	SYNE1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	14371	-	C	C		Ovarian(120;0.0955)	Missense_Mutation	4590			Potential.|Cytoplasmic (Potential).			
SYNE1	23345	broad.mit.edu	GRCh37	6	152737569	152737569	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-5417-01	TCGA-06-5417-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367255.5:c.6003T>C	p.Thr2001=	p.T2001=	ENST00000367255	NM_182961.3	2001	acT/acC	0			1			G	T	uc010kiw.2	protein_coding	YES	CCDS5236.2			6003/26394									central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45	c.(6001-6003)ACT>ACC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,Superfamily_domains:SSF46966	spectrin repeat containing, nuclear envelope 1				ENSP00000356224		41/146									COSM2153313,COSM2153312,COSM3410690,COSM2153314,COSM3410689	41/146	.		ENST00000367255	Transcript	1		cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	ENSG00000131018	g.chr6:152737569A>G	17089			LOW								--	--	1				HNSCC(10;0.0054)																														SYNE1_uc003qot.3_Silent_p.T2008T|SYNE1_uc003qou.3_Silent_p.T2001T|SYNE1_uc010kjb.1_Silent_p.T1984T	1,1,1,1,1	1			p.T2001T	NM_182961	NP_892006			1,1,1,1,1	SYNE1_HUMAN	SYNE1	HGNC	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)			41	6605	-		Ovarian(120;0.0955)	UPI000204AF58	2001			Cytoplasmic (Potential).|Potential.		SNV	SYNE1,synonymous_variant,p.=,ENST00000367255,NM_182961.3;SYNE1,synonymous_variant,p.=,ENST00000265368,;SYNE1,synonymous_variant,p.=,ENST00000448038,;SYNE1,synonymous_variant,p.=,ENST00000423061,NM_033071.3;SYNE1,synonymous_variant,p.=,ENST00000341594,;SYNE1,non_coding_transcript_exon_variant,,ENST00000461872,;	uc010kiw.2	c.6003T>C	6605/27748	3	3			c.6003T>C						6	SNP	c.(6001-6003)ACT>ACC	54	54			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45	Broad	spectrin repeat containing, nuclear envelope 1			152737569		0.448	ENSG00000131018	15209	g.chr6:152737569A>G	cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding							701.826229	KEEP	115	137	-1	153	161	115	137	-1	703.454625	153	161	0.440154	1	0	0	0	0	0	0	1	0	--	--	HNSCC(10;0.0054)	0	G			SYNE1_uc003qot.3_Silent_p.T2008T|SYNE1_uc003qou.3_Silent_p.T2001T|SYNE1_uc010kjb.1_Silent_p.T1984T	99	GBM-06-5417-TP	p.T2001T	A	GCTCTTTGTCAGTCCTTTCTT	NM_182961	NP_892006	152737569	Q8NF91	SYNE1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	41	6605	-	G	G		Ovarian(120;0.0955)	Silent	2001			Cytoplasmic (Potential).|Potential.			
SYNE1	0	broad.mit.edu	GRCh37	6	152461140	152461140	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs143049227		TCGA-12-0821-01	TCGA-12-0821-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367255.5:c.25403G>A	p.Arg8468His	p.R8468H	ENST00000367255	NM_182961.3	8468	cGt/cAt	0	T:0.0002		1			T	R/H	uc010kiw.2	protein_coding	YES	CCDS5236.2			25403/26394								p.R8468H(1)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45	c.(25402-25404)CGT>CAT			Gene3D:1.20.58.60,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,Low_complexity_(Seg):seg,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin repeat containing, nuclear envelope 1			T:0.0001	ENSP00000356224		140/146	0.000189	0.000192			0.000454	0.000195	0.0022	0.000182	rs143049227,COSM33609,COSM164734,COSM3393864,COSM1441248,COSM3393863	140/146	common_variant		ENST00000367255	Transcript	1		cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	ENSG00000131018	g.chr6:152461140C>T	17089			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=SYNE1_HUMAN&rb=8440&re=8547&var=R8468H	NA	getma.org/?cm=var&var=hg19,6,152461140,C,T&fts=all	R8468H	--	--	1				HNSCC(10;0.0054)																														SYNE1_uc010kiv.2_Missense_Mutation_p.R2992H|SYNE1_uc003qos.3_Missense_Mutation_p.R2992H|SYNE1_uc003qot.3_Missense_Mutation_p.R8420H|SYNE1_uc003qou.3_Missense_Mutation_p.R8468H|SYNE1_uc003qop.3_Missense_Mutation_p.R653H|SYNE1_uc011eez.1_Missense_Mutation_p.R670H|SYNE1_uc003qoq.3_Missense_Mutation_p.R670H|SYNE1_uc003qor.3_Missense_Mutation_p.R1391H	0,1,1,1,1,1	1		benign(0.009)	p.R8468H	NM_182961	NP_892006			0,1,1,1,1,1	SYNE1_HUMAN	SYNE1	HGNC	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)			140	26005	-		Ovarian(120;0.0955)	UPI000204AF58	8468		R -> H (in a colorectal cancer sample; somatic mutation).	Cytoplasmic (Potential).|Spectrin 31.		SNV	SYNE1,missense_variant,p.Arg8468His,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Arg8468His,ENST00000265368,;SYNE1,missense_variant,p.Arg8420His,ENST00000448038,;SYNE1,missense_variant,p.Arg8420His,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Arg8080His,ENST00000341594,;SYNE1,missense_variant,p.Arg2992His,ENST00000356820,;SYNE1,missense_variant,p.Arg1413His,ENST00000367251,;SYNE1,missense_variant,p.Arg1114His,ENST00000367257,;SYNE1,missense_variant,p.Arg623His,ENST00000539504,;SYNE1,missense_variant,p.Arg646His,ENST00000354674,;SYNE1,non_coding_transcript_exon_variant,,ENST00000347037,;SYNE1,non_coding_transcript_exon_variant,,ENST00000460912,;SYNE1,non_coding_transcript_exon_variant,,ENST00000536990,;SYNE1,non_coding_transcript_exon_variant,,ENST00000367256,;SYNE1,non_coding_transcript_exon_variant,,ENST00000409694,;SYNE1,non_coding_transcript_exon_variant,,ENST00000478916,;	uc010kiw.2	c.25403G>A	26005/27748	1	1			c.25403G>A						6	SNP	c.(25402-25404)CGT>CAT	13	13		p.R8468H(1)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45	Broad	spectrin repeat containing, nuclear envelope 1			152461140		0.557	ENSG00000131018	15209	g.chr6:152461140C>T	cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding							224.35245	KEEP	57	28	-1	92	56	57	28	-1	226.454843	92	56	0.39	1	0	0	0	0	1	0	0	0	--	--	HNSCC(10;0.0054)	0	T			SYNE1_uc010kiv.2_Missense_Mutation_p.R2992H|SYNE1_uc003qos.3_Missense_Mutation_p.R2992H|SYNE1_uc003qot.3_Missense_Mutation_p.R8420H|SYNE1_uc003qou.3_Missense_Mutation_p.R8468H|SYNE1_uc003qop.3_Missense_Mutation_p.R653H|SYNE1_uc011eez.1_Missense_Mutation_p.R670H|SYNE1_uc003qoq.3_Missense_Mutation_p.R670H|SYNE1_uc003qor.3_Missense_Mutation_p.R1391H	123	GBM-12-0821-TP	p.R8468H	C	GAGTTCCAGACGCTGGAGCTG	NM_182961	NP_892006	152461140	Q8NF91	SYNE1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	140	26005	-	T	T		Ovarian(120;0.0955)	Missense_Mutation	8468		R -> H (in a colorectal cancer sample; somatic mutation).	Cytoplasmic (Potential).|Spectrin 31.			
SYNE1	0	broad.mit.edu	GRCh37	6	152763368	152763368	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs140780725		TCGA-14-0817-01	TCGA-14-0817-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367255.5:c.3850C>T	p.Arg1284Trp	p.R1284W	ENST00000367255	NM_182961.3	1284	Cgg/Tgg	0	A:0.0009	A:0.0015	1	A:0.0014		A	R/W	uc010kiw.2	protein_coding	YES	CCDS5236.2			3850/26394						likely_benign			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45	c.(3850-3852)CGG>TGG			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267	spectrin repeat containing, nuclear envelope 1		A:0	A:0	ENSP00000356224	A:0	31/146	5.77E-05	0.000693							rs140780725,COSM1441638,COSM1441637,COSM3410697,COSM1441639,COSM3410696	31/146	common_variant		ENST00000367255	Transcript	1	A:0.0006	cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	ENSG00000131018	g.chr6:152763368G>A	17089			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=SYNE1_HUMAN&rb=1284&re=1483&var=R1284W	NA	getma.org/?cm=var&var=hg19,6,152763368,G,A&fts=all	R1284W	--	--	1				HNSCC(10;0.0054)																														SYNE1_uc003qot.3_Missense_Mutation_p.R1291W|SYNE1_uc003qou.3_Missense_Mutation_p.R1284W|SYNE1_uc010kjb.1_Missense_Mutation_p.R1267W|SYNE1_uc003qow.2_Missense_Mutation_p.R579W|SYNE1_uc003qox.1_Missense_Mutation_p.R800W	1,1,1,1,1,1	1		possibly_damaging(0.677)	p.R1284W	NM_182961	NP_892006	A:0		0,1,1,1,1,1	SYNE1_HUMAN	SYNE1	HGNC	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)			31	4452	-		Ovarian(120;0.0955)	UPI000204AF58	1284			Potential.|Cytoplasmic (Potential).		SNV	SYNE1,missense_variant,p.Arg1284Trp,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Arg1284Trp,ENST00000265368,;SYNE1,missense_variant,p.Arg1291Trp,ENST00000448038,;SYNE1,missense_variant,p.Arg1291Trp,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Arg1350Trp,ENST00000341594,;SYNE1,missense_variant,p.Arg1274Trp,ENST00000367248,;SYNE1,missense_variant,p.Arg1284Trp,ENST00000367253,;SYNE1,missense_variant,p.Arg1284Trp,ENST00000413186,;SYNE1,non_coding_transcript_exon_variant,,ENST00000461872,;	uc010kiw.2	c.3850C>T	4452/27748	2	2			c.3850C>T						6	SNP	c.(3850-3852)CGG>TGG	48	48			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45	Broad	spectrin repeat containing, nuclear envelope 1			152763368		0.512	ENSG00000131018	15209	g.chr6:152763368G>A	cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding							123.800333	KEEP	26	24	-1	47	33	26	24	-1	124.70213	47	33	0.401869	1	0	0	0	0	1	0	0	0	--	--	HNSCC(10;0.0054)	0	A			SYNE1_uc003qot.3_Missense_Mutation_p.R1291W|SYNE1_uc003qou.3_Missense_Mutation_p.R1284W|SYNE1_uc010kjb.1_Missense_Mutation_p.R1267W|SYNE1_uc003qow.2_Missense_Mutation_p.R579W|SYNE1_uc003qox.1_Missense_Mutation_p.R800W	139	GBM-14-0817-TP	p.R1284W	G	GCTGAGATCCGCTTTGTCTTT	NM_182961	NP_892006	152763368	Q8NF91	SYNE1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	31	4452	-	A	A		Ovarian(120;0.0955)	Missense_Mutation	1284			Potential.|Cytoplasmic (Potential).			
SYNE1	0	broad.mit.edu	GRCh37	6	152779932	152779932	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-14-0871-01	TCGA-14-0871-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367255.5:c.2528G>C	p.Arg843Pro	p.R843P	ENST00000367255	NM_182961.3	843	cGt/cCt	0			1			G	R/P	uc010kiw.2	protein_coding	YES	CCDS5236.2			2528/26394									central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45	c.(2527-2529)CGT>CCT			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267	spectrin repeat containing, nuclear envelope 1				ENSP00000356224		22/146									COSM3410699,COSM3410698,COSM3410702,COSM3410700,COSM3410701	22/146	.		ENST00000367255	Transcript	1		cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	ENSG00000131018	g.chr6:152779932C>G	17089			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=SYNE1_HUMAN&rb=684&re=883&var=R843P	NA	getma.org/?cm=var&var=hg19,6,152779932,C,G&fts=all	R843P	--	--	1				HNSCC(10;0.0054)																														SYNE1_uc003qot.3_Missense_Mutation_p.R850P|SYNE1_uc003qou.3_Missense_Mutation_p.R843P|SYNE1_uc010kjb.1_Missense_Mutation_p.R826P|SYNE1_uc003qow.2_Missense_Mutation_p.R138P|SYNE1_uc003qox.1_Missense_Mutation_p.R359P|SYNE1_uc003qoz.2_Missense_Mutation_p.R275P|SYNE1_uc003qoy.2_Missense_Mutation_p.R410P	1,1,1,1,1	1		benign(0.001)	p.R843P	NM_182961	NP_892006			1,1,1,1,1	SYNE1_HUMAN	SYNE1	HGNC	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)			22	3130	-		Ovarian(120;0.0955)	UPI000204AF58	843			Cytoplasmic (Potential).|Potential.		SNV	SYNE1,missense_variant,p.Arg843Pro,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Arg843Pro,ENST00000265368,;SYNE1,missense_variant,p.Arg850Pro,ENST00000448038,;SYNE1,missense_variant,p.Arg850Pro,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Arg850Pro,ENST00000341594,;SYNE1,missense_variant,p.Arg833Pro,ENST00000367248,;SYNE1,missense_variant,p.Arg843Pro,ENST00000367253,;SYNE1,missense_variant,p.Arg843Pro,ENST00000413186,;SYNE1,missense_variant,p.Arg410Pro,ENST00000495090,;SYNE1,downstream_gene_variant,,ENST00000466159,;SYNE1,non_coding_transcript_exon_variant,,ENST00000535896,;SYNE1,downstream_gene_variant,,ENST00000481502,;SYNE1,downstream_gene_variant,,ENST00000498751,;SYNE1,3_prime_UTR_variant,,ENST00000474655,;SYNE1,non_coding_transcript_exon_variant,,ENST00000461872,;	uc010kiw.2	c.2528G>C	3130/27748	3	3			c.2528G>C						6	SNP	c.(2527-2529)CGT>CCT	52	52			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45	Broad	spectrin repeat containing, nuclear envelope 1			152779932		0.403	ENSG00000131018	15209	g.chr6:152779932C>G	cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding							44.56866	KEEP	16	6	-1	72	81	16	6	-1	65.470829	72	81	0.132075	1	0	0	0	0	1	0	0	0	--	--	HNSCC(10;0.0054)	0	G			SYNE1_uc003qot.3_Missense_Mutation_p.R850P|SYNE1_uc003qou.3_Missense_Mutation_p.R843P|SYNE1_uc010kjb.1_Missense_Mutation_p.R826P|SYNE1_uc003qow.2_Missense_Mutation_p.R138P|SYNE1_uc003qox.1_Missense_Mutation_p.R359P|SYNE1_uc003qoz.2_Missense_Mutation_p.R275P|SYNE1_uc003qoy.2_Missense_Mutation_p.R410P	141	GBM-14-0871-TP	p.R843P	C	TTGTGCCTCACGCTCAAGAAC	NM_182961	NP_892006	152779932	Q8NF91	SYNE1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	22	3130	-	G	G		Ovarian(120;0.0955)	Missense_Mutation	843			Cytoplasmic (Potential).|Potential.			
SYNE1	0	broad.mit.edu	GRCh37	6	152660497	152660497	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-5954-01	TCGA-19-5954-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367255.5:c.12230A>G	p.Lys4077Arg	p.K4077R	ENST00000367255	NM_182961.3	4077	aAa/aGa	0			1			C	K/R	uc010kiw.2	protein_coding	YES	CCDS5236.2			12230/26394									central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45	c.(12229-12231)AAA>AGA			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,Superfamily_domains:SSF46966	spectrin repeat containing, nuclear envelope 1				ENSP00000356224		75/146									COSM2156736,COSM2156735,COSM3410683,COSM2156737,COSM3410682	75/146	.		ENST00000367255	Transcript	1		cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	ENSG00000131018	g.chr6:152660497T>C	17089			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=SYNE1_HUMAN&rb=3920&re=4119&var=K4077R	NA	getma.org/?cm=var&var=hg19,6,152660497,T,C&fts=all	K4077R	--	--	1				HNSCC(10;0.0054)																														SYNE1_uc003qot.3_Missense_Mutation_p.K4006R|SYNE1_uc003qou.3_Missense_Mutation_p.K4077R|SYNE1_uc010kja.1_Missense_Mutation_p.K782R	1,1,1,1,1	1		possibly_damaging(0.492)	p.K4077R	NM_182961	NP_892006			1,1,1,1,1	SYNE1_HUMAN	SYNE1	HGNC	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)			75	12832	-		Ovarian(120;0.0955)	UPI000204AF58	4077			Cytoplasmic (Potential).		SNV	SYNE1,missense_variant,p.Lys4077Arg,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Lys4077Arg,ENST00000265368,;SYNE1,missense_variant,p.Lys4006Arg,ENST00000448038,;SYNE1,missense_variant,p.Lys4006Arg,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Lys3942Arg,ENST00000341594,;SYNE1,non_coding_transcript_exon_variant,,ENST00000471834,;	uc010kiw.2	c.12230A>G	12832/27748	3	3			c.12230A>G						6	SNP	c.(12229-12231)AAA>AGA	61	61			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45	Broad	spectrin repeat containing, nuclear envelope 1			152660497		0.403	ENSG00000131018	15209	g.chr6:152660497T>C	cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding							81.22432	KEEP	10	14	-1	15	33	10	14	-1	82.331388	15	33	0.359375	1	0	0	0	0	1	0	0	0	--	--	HNSCC(10;0.0054)	0	C			SYNE1_uc003qot.3_Missense_Mutation_p.K4006R|SYNE1_uc003qou.3_Missense_Mutation_p.K4077R|SYNE1_uc010kja.1_Missense_Mutation_p.K782R	174	GBM-19-5954-TP	p.K4077R	T	TCTGAAGTGTTTGACCTGGAA	NM_182961	NP_892006	152660497	Q8NF91	SYNE1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	75	12832	-	C	C		Ovarian(120;0.0955)	Missense_Mutation	4077			Cytoplasmic (Potential).			
SYNE1	0	broad.mit.edu	GRCh37	6	152751311	152751311	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-27-2528-01	TCGA-27-2528-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367255.5:c.4724T>A	p.Leu1575His	p.L1575H	ENST00000367255	NM_182961.3	1575	cTt/cAt	0			1			T	L/H	uc010kiw.2	protein_coding	YES	CCDS5236.2			4724/26394									central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45	c.(4723-4725)CTT>CAT			Gene3D:1.20.58.60,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin repeat containing, nuclear envelope 1				ENSP00000356224		36/146									COSM3410692,COSM3410691,COSM3410695,COSM3410693,COSM3410694	36/146	.		ENST00000367255	Transcript	1		cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	ENSG00000131018	g.chr6:152751311A>T	17089			MODERATE		2.005	medium	getma.org/?cm=msa&ty=f&p=SYNE1_HUMAN&rb=1484&re=1683&var=L1575H	NA	getma.org/?cm=var&var=hg19,6,152751311,A,T&fts=all	L1575H	--	--	1				HNSCC(10;0.0054)																														SYNE1_uc003qot.3_Missense_Mutation_p.L1582H|SYNE1_uc003qou.3_Missense_Mutation_p.L1575H|SYNE1_uc010kjb.1_Missense_Mutation_p.L1558H|SYNE1_uc003qow.2_Missense_Mutation_p.L870H	1,1,1,1,1	1		probably_damaging(0.969)	p.L1575H	NM_182961	NP_892006			1,1,1,1,1	SYNE1_HUMAN	SYNE1	HGNC	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)			36	5326	-		Ovarian(120;0.0955)	UPI000204AF58	1575			Potential.|Cytoplasmic (Potential).		SNV	SYNE1,missense_variant,p.Leu1575His,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Leu1575His,ENST00000265368,;SYNE1,missense_variant,p.Leu1582His,ENST00000448038,;SYNE1,missense_variant,p.Leu1582His,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Leu1645His,ENST00000341594,;SYNE1,missense_variant,p.Leu1575His,ENST00000367253,;SYNE1,downstream_gene_variant,,ENST00000367248,;SYNE1,non_coding_transcript_exon_variant,,ENST00000461872,;	uc010kiw.2	c.4724T>A	5326/27748	2	2			c.4724T>A						6	SNP	c.(4723-4725)CTT>CAT	33	33			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45	Broad	spectrin repeat containing, nuclear envelope 1			152751311		0.303	ENSG00000131018	15209	g.chr6:152751311A>T	cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding							36.893487	KEEP	8	7	-1	9	11	8	7	-1	37.156049	9	11	0.4	1	0	0	0	0	1	0	0	0	--	--	HNSCC(10;0.0054)	0	T			SYNE1_uc003qot.3_Missense_Mutation_p.L1582H|SYNE1_uc003qou.3_Missense_Mutation_p.L1575H|SYNE1_uc010kjb.1_Missense_Mutation_p.L1558H|SYNE1_uc003qow.2_Missense_Mutation_p.L870H	205	GBM-27-2528-TP	p.L1575H	A	TGGAACAGCAAGTTTATCTTC	NM_182961	NP_892006	152751311	Q8NF91	SYNE1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	36	5326	-	T	T		Ovarian(120;0.0955)	Missense_Mutation	1575			Potential.|Cytoplasmic (Potential).			
SYNE1	0	broad.mit.edu	GRCh37	6	152527476	152527476	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01	TCGA-28-2502-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367255.5:c.22846C>T	p.Arg7616Trp	p.R7616W	ENST00000367255	NM_182961.3	7616	Cgg/Tgg	0	A:0.0002	A:0	1	A:0.0014		A	R/W	uc010kiw.2	protein_coding	YES	CCDS5236.2			22846/26394									central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45	c.(22846-22848)CGG>TGG			Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,SMART_domains:SM00150	spectrin repeat containing, nuclear envelope 1		A:0	A:0	ENSP00000356224	A:0	126/146	2.47E-05	0.000193	8.67E-05						rs200236760,COSM1441296,COSM1441295,COSM3410672,COSM1441297,COSM3410671	126/146	.		ENST00000367255	Transcript	1	A:0.0002	cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	ENSG00000131018	g.chr6:152527476G>A	17089			MODERATE		2.485	medium	getma.org/?cm=msa&ty=f&p=SYNE1_HUMAN&rb=7454&re=7653&var=R7616W	NA	getma.org/?cm=var&var=hg19,6,152527476,G,A&fts=all	R7616W	--	--	1				HNSCC(10;0.0054)																														SYNE1_uc010kiv.2_Missense_Mutation_p.R2140W|SYNE1_uc003qos.3_Missense_Mutation_p.R2140W|SYNE1_uc003qot.3_Missense_Mutation_p.R7545W|SYNE1_uc003qou.3_Missense_Mutation_p.R7616W|SYNE1_uc003qor.3_Missense_Mutation_p.R516W	0,1,1,1,1,1	1		probably_damaging(0.986)	p.R7616W	NM_182961	NP_892006	A:0		0,1,1,1,1,1	SYNE1_HUMAN	SYNE1	HGNC	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)			126	23448	-		Ovarian(120;0.0955)	UPI000204AF58	7616			Cytoplasmic (Potential).		SNV	SYNE1,missense_variant,p.Arg7616Trp,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Arg7616Trp,ENST00000265368,;SYNE1,missense_variant,p.Arg7545Trp,ENST00000448038,;SYNE1,missense_variant,p.Arg7545Trp,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Arg7228Trp,ENST00000341594,;SYNE1,missense_variant,p.Arg2140Trp,ENST00000356820,;SYNE1,missense_variant,p.Arg538Trp,ENST00000367251,;SYNE1,missense_variant,p.Arg262Trp,ENST00000367257,;SYNE1,non_coding_transcript_exon_variant,,ENST00000367256,;SYNE1,non_coding_transcript_exon_variant,,ENST00000409694,;	uc010kiw.2	c.22846C>T	23448/27748	1	1			c.22846C>T						6	SNP	c.(22846-22848)CGG>TGG	53	53			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45	Broad	spectrin repeat containing, nuclear envelope 1			152527476		0.483	ENSG00000131018	15209	g.chr6:152527476G>A	cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding							53.785962	KEEP	11	18	-1	58	74	11	18	-1	65.688304	58	74	0.192593	1	0	0	0	0	1	0	0	0	--	--	HNSCC(10;0.0054)	0	A			SYNE1_uc010kiv.2_Missense_Mutation_p.R2140W|SYNE1_uc003qos.3_Missense_Mutation_p.R2140W|SYNE1_uc003qot.3_Missense_Mutation_p.R7545W|SYNE1_uc003qou.3_Missense_Mutation_p.R7616W|SYNE1_uc003qor.3_Missense_Mutation_p.R516W	210	GBM-28-2502-TP	p.R7616W	G	CCTTGTTGCCGCAGAAACACT	NM_182961	NP_892006	152527476	Q8NF91	SYNE1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	126	23448	-	A	A		Ovarian(120;0.0955)	Missense_Mutation	7616			Cytoplasmic (Potential).			
SYNE1	0	broad.mit.edu	GRCh37	6	152861113	152861113	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-28-5211-01	TCGA-28-5211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367255.5:c.111C>G	p.Ile37Met	p.I37M	ENST00000367255	NM_182961.3	37	atC/atG	0			1			C	I/M	uc010kiw.2	protein_coding	YES	CCDS5236.2			111/26394									central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45	c.(109-111)ATC>ATG			Gene3D:1.10.418.10,Pfam_domain:PF00307,PROSITE_patterns:PS00019,PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,SMART_domains:SM00033,Superfamily_domains:SSF47576	spectrin repeat containing, nuclear envelope 1				ENSP00000356224		4/146	3.29E-05							0.000242	rs756572630,COSM3410711,COSM3410710,COSM3410714,COSM3410712,COSM3410713	4/146	.		ENST00000367255	Transcript	1		cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	ENSG00000131018	g.chr6:152861113G>C	17089			MODERATE		1.96	medium	getma.org/?cm=msa&ty=f&p=SYNE1_HUMAN&rb=30&re=134&var=I37M	getma.org/pdb.php?prot=SYNE1_HUMAN&from=30&to=134&var=I37M	getma.org/?cm=var&var=hg19,6,152861113,G,C&fts=all	I37M	--	--	1				HNSCC(10;0.0054)																														SYNE1_uc003qot.3_Missense_Mutation_p.I37M|SYNE1_uc003qou.3_Missense_Mutation_p.I37M|SYNE1_uc010kjb.1_Missense_Mutation_p.I37M|SYNE1_uc003qpa.1_Missense_Mutation_p.I37M	0,1,1,1,1,1	1		benign(0.251)	p.I37M	NM_182961	NP_892006			0,1,1,1,1,1	SYNE1_HUMAN	SYNE1	HGNC	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)			4	713	-		Ovarian(120;0.0955)	UPI000204AF58	37			Actin-binding.|Cytoplasmic (Potential).|CH 1.		SNV	SYNE1,missense_variant,p.Ile37Met,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Ile37Met,ENST00000265368,;SYNE1,missense_variant,p.Ile37Met,ENST00000448038,;SYNE1,missense_variant,p.Ile37Met,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Ile37Met,ENST00000341594,;SYNE1,missense_variant,p.Ile37Met,ENST00000367248,;SYNE1,missense_variant,p.Ile37Met,ENST00000367253,;SYNE1,missense_variant,p.Ile37Met,ENST00000413186,;SYNE1,missense_variant,p.Ile37Met,ENST00000537750,;SYNE1,missense_variant,p.Ile37Met,ENST00000466159,;SYNE1,non_coding_transcript_exon_variant,,ENST00000461872,;	uc010kiw.2	c.111C>G	713/27748	3	3			c.111C>G						6	SNP	c.(109-111)ATC>ATG	10	10			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45	Broad	spectrin repeat containing, nuclear envelope 1			152861113		0.338	ENSG00000131018	15209	g.chr6:152861113G>C	cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding							70.550205	KEEP	18	19	-1	85	97	18	19	-1	86.455039	85	97	0.180723	1	0	0	0	0	1	0	0	0	--	--	HNSCC(10;0.0054)	0	C			SYNE1_uc003qot.3_Missense_Mutation_p.I37M|SYNE1_uc003qou.3_Missense_Mutation_p.I37M|SYNE1_uc010kjb.1_Missense_Mutation_p.I37M|SYNE1_uc003qpa.1_Missense_Mutation_p.I37M	219	GBM-28-5211-TP	p.I37M	G	GATGAGAGTTGATCCATTTTG	NM_182961	NP_892006	152861113	Q8NF91	SYNE1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	4	713	-	C	C		Ovarian(120;0.0955)	Missense_Mutation	37			Actin-binding.|Cytoplasmic (Potential).|CH 1.			
SYNE1	0	broad.mit.edu	GRCh37	6	152831380	152831380	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367255.5:c.529C>T	p.Gln177Ter	p.Q177*	ENST00000367255	NM_182961.3	177	Caa/Taa	0			1			A	Q/*	uc010kiw.2	protein_coding	YES	CCDS5236.2			529/26394									central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45	c.(529-531)CAA>TAA			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,Superfamily_domains:SSF47576	spectrin repeat containing, nuclear envelope 1				ENSP00000356224		8/146									COSM3021444,COSM3021443,COSM3410709,COSM3021445,COSM3410708	8/146	.		ENST00000367255	Transcript	1		cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	ENSG00000131018	g.chr6:152831380G>A	17089			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,6,152831380,G,A&fts=all	Q177*	--	--	1				HNSCC(10;0.0054)																														SYNE1_uc003qot.3_Nonsense_Mutation_p.Q184*|SYNE1_uc003qou.3_Nonsense_Mutation_p.Q177*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.Q177*|SYNE1_uc003qpa.1_Nonsense_Mutation_p.Q177*	1,1,1,1,1	1			p.Q177*	NM_182961	NP_892006			1,1,1,1,1	SYNE1_HUMAN	SYNE1	HGNC	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)			8	1131	-		Ovarian(120;0.0955)	UPI000204AF58	177			Actin-binding.|Cytoplasmic (Potential).		SNV	SYNE1,stop_gained,p.Gln177Ter,ENST00000367255,NM_182961.3;SYNE1,stop_gained,p.Gln177Ter,ENST00000265368,;SYNE1,stop_gained,p.Gln184Ter,ENST00000448038,;SYNE1,stop_gained,p.Gln184Ter,ENST00000423061,NM_033071.3;SYNE1,stop_gained,p.Gln177Ter,ENST00000341594,;SYNE1,stop_gained,p.Gln184Ter,ENST00000367248,;SYNE1,stop_gained,p.Gln177Ter,ENST00000367253,;SYNE1,stop_gained,p.Gln177Ter,ENST00000413186,;SYNE1,stop_gained,p.Gln177Ter,ENST00000537750,;SYNE1,stop_gained,p.Gln177Ter,ENST00000466159,;SYNE1,non_coding_transcript_exon_variant,,ENST00000461872,;	uc010kiw.2	c.529C>T	1131/27748	5	1			c.529C>T						6	SNP	c.(529-531)CAA>TAA	57	57			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45	Broad	spectrin repeat containing, nuclear envelope 1			152831380		0.453	ENSG00000131018	15209	g.chr6:152831380G>A	cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding							127.556354	KEEP	26	31	-1	113	110	26	31	-1	147.303669	113	110	0.208	1	0	0	0	0	0	1	0	0	--	--	HNSCC(10;0.0054)	0	A			SYNE1_uc003qot.3_Nonsense_Mutation_p.Q184*|SYNE1_uc003qou.3_Nonsense_Mutation_p.Q177*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.Q177*|SYNE1_uc003qpa.1_Nonsense_Mutation_p.Q177*	232	GBM-32-1982-TP	p.Q177*	G	GCATTTCCTTGGATCTTGGTG	NM_182961	NP_892006	152831380	Q8NF91	SYNE1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	8	1131	-	A	A		Ovarian(120;0.0955)	Nonsense_Mutation	177			Actin-binding.|Cytoplasmic (Potential).			
SYNE1	0	broad.mit.edu	GRCh37	6	152685991	152685991	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01	TCGA-32-2491-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367255.5:c.10136G>A	p.Arg3379His	p.R3379H	ENST00000367255	NM_182961.3	3379	cGt/cAt	0			1			T	R/H	uc010kiw.2	protein_coding	YES	CCDS5236.2			10136/26394									central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45	c.(10135-10137)CGT>CAT			Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin repeat containing, nuclear envelope 1				ENSP00000356224		63/146	1.65E-05					1.50E-05		6.06E-05	rs764835758,COSM3410685,COSM3410684,COSM3410688,COSM3410686,COSM3410687	63/146	.		ENST00000367255	Transcript	1		cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	ENSG00000131018	g.chr6:152685991C>T	17089			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=SYNE1_HUMAN&rb=3278&re=3477&var=R3379H	NA	getma.org/?cm=var&var=hg19,6,152685991,C,T&fts=all	R3379H	--	--	1				HNSCC(10;0.0054)																														SYNE1_uc003qot.3_Missense_Mutation_p.R3386H|SYNE1_uc003qou.3_Missense_Mutation_p.R3379H|SYNE1_uc010kja.1_Missense_Mutation_p.R84H	0,1,1,1,1,1	1		benign(0.01)	p.R3379H	NM_182961	NP_892006			0,1,1,1,1,1	SYNE1_HUMAN	SYNE1	HGNC	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)			63	10738	-		Ovarian(120;0.0955)	UPI000204AF58	3379			Spectrin 7.|HAT 6.|Cytoplasmic (Potential).		SNV	SYNE1,missense_variant,p.Arg3379His,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Arg3379His,ENST00000265368,;SYNE1,missense_variant,p.Arg3386His,ENST00000448038,;SYNE1,missense_variant,p.Arg3386His,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Arg3418His,ENST00000341594,;SYNE1,downstream_gene_variant,,ENST00000454018,;SYNE1,downstream_gene_variant,,ENST00000469439,;SYNE1,non_coding_transcript_exon_variant,,ENST00000471834,;	uc010kiw.2	c.10136G>A	10738/27748	1	1			c.10136G>A						6	SNP	c.(10135-10137)CGT>CAT	3	3			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45	Broad	spectrin repeat containing, nuclear envelope 1			152685991		0.448	ENSG00000131018	15209	g.chr6:152685991C>T	cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding							78.229674	KEEP	13	26	-1	45	66	13	26	-1	84.989291	45	66	0.256	1	0	0	0	0	1	0	0	0	--	--	HNSCC(10;0.0054)	0	T			SYNE1_uc003qot.3_Missense_Mutation_p.R3386H|SYNE1_uc003qou.3_Missense_Mutation_p.R3379H|SYNE1_uc010kja.1_Missense_Mutation_p.R84H	235	GBM-32-2491-TP	p.R3379H	C	CCTTTTACAACGAATCCCTGC	NM_182961	NP_892006	152685991	Q8NF91	SYNE1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	63	10738	-	T	T		Ovarian(120;0.0955)	Missense_Mutation	3379			Spectrin 7.|HAT 6.|Cytoplasmic (Potential).			
SYNE1	23345		GRCh37	6	152554981	152554981	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000367255.5:c.20647C>T	p.Arg6883Cys	p.R6883C	ENST00000367255	NM_182961.3	6883	Cgc/Tgc	0																																																																																																																																																																																																																																												
SYNE2	23224	broad.mit.edu	GRCh37	14	64457171	64457171	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0154-01	TCGA-06-0154-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358025.3:c.2356A>G	p.Arg786Gly	p.R786G	ENST00000358025	NM_182914.2	786	Aga/Gga	0			1			G	R/G	uc001xgm.2	protein_coding		CCDS41963.1			2356/20658									ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14	c.(2356-2358)AGA>GGA			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF264	spectrin repeat containing, nuclear envelope 2				ENSP00000341781		20/115									COSM2149939	20/115	.		ENST00000344113	Transcript	1		centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	ENSG00000054654	g.chr14:64457171A>G	17084			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=SYNE2_HUMAN&rb=670&re=1805&var=R786G	NA	getma.org/?cm=var&var=hg19,14,64457171,A,G&fts=all	R786G	--	--	1																																		SYNE2_uc001xgl.2_Missense_Mutation_p.R786G	1			benign(0.169)	p.R786G	NM_015180	NP_055995			1	SYNE2_HUMAN	SYNE2	HGNC	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	Q86YP9_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN		20	2586	+			UPI00001B0452	786			Cytoplasmic (Potential).		SNV	SYNE2,missense_variant,p.Arg786Gly,ENST00000358025,NM_182914.2;SYNE2,missense_variant,p.Arg786Gly,ENST00000344113,NM_015180.4;SYNE2,missense_variant,p.Arg786Gly,ENST00000554584,;SYNE2,5_prime_UTR_variant,,ENST00000357395,;	uc001xgm.2	c.2356A>G	2568/21777	3	3			c.2356A>G						14	SNP	c.(2356-2358)AGA>GGA	9	9			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14	Broad	spectrin repeat containing, nuclear envelope 2			64457171		0.343	ENSG00000054654	15210	g.chr14:64457171A>G	centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding							89.110661	KEEP	24	27	-1	61	39	24	27	-1	96.239638	61	39	0.243697	1	0	0	0	0	1	0	0	0	--	--		0	G			SYNE2_uc001xgl.2_Missense_Mutation_p.R786G	26	GBM-06-0154-TP	p.R786G	A	GCTTATGGCAAGAAGTGAAGA	NM_015180	NP_055995	64457171	Q8WXH0	SYNE2_HUMAN	0		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	20	2586	+	G	G			Missense_Mutation	786			Cytoplasmic (Potential).			
SYNE2	23224	broad.mit.edu	GRCh37	14	64496750	64496750	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358025.3:c.6852G>A	p.Ala2284=	p.A2284=	ENST00000358025	NM_182914.2	2284	gcG/gcA	0			1			A	A	uc001xgm.2	protein_coding		CCDS41963.1			6852/20658									ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14	c.(6850-6852)GCG>GCA			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF264,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin repeat containing, nuclear envelope 2				ENSP00000341781		44/115									COSM2150431	44/115	.		ENST00000344113	Transcript	1		centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	ENSG00000054654	g.chr14:64496750G>A	17084			LOW								--	--	1																																		SYNE2_uc001xgl.2_Silent_p.A2284A	1				p.A2284A	NM_015180	NP_055995			1	SYNE2_HUMAN	SYNE2	HGNC	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	Q86YP9_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN		44	7082	+			UPI00001B0452	2284			Cytoplasmic (Potential).|Potential.		SNV	SYNE2,synonymous_variant,p.=,ENST00000358025,NM_182914.2;SYNE2,synonymous_variant,p.=,ENST00000344113,NM_015180.4;SYNE2,synonymous_variant,p.=,ENST00000554584,;SYNE2,5_prime_UTR_variant,,ENST00000357395,;SYNE2,non_coding_transcript_exon_variant,,ENST00000557005,;	uc001xgm.2	c.6852G>A	7064/21777	2	2			c.6852G>A						14	SNP	c.(6850-6852)GCG>GCA	43	43			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14	Broad	spectrin repeat containing, nuclear envelope 2			64496750		0.363	ENSG00000054654	15210	g.chr14:64496750G>A	centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding							57.364453	KEEP	14	9	-1	27	38	14	9	-1	61.220368	27	38	0.263158	1	0	0	0	0	0	0	1	0	--	--		0	A			SYNE2_uc001xgl.2_Silent_p.A2284A	39	GBM-06-0184-TP	p.A2284A	G	ATCAAATAGCGGTTGAGGAAA	NM_015180	NP_055995	64496750	Q8WXH0	SYNE2_HUMAN	0		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	44	7082	+	A	A			Silent	2284			Cytoplasmic (Potential).|Potential.			
SYNE2	0	broad.mit.edu	GRCh37	14	64634098	64634098	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0688-01	TCGA-12-0688-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344113.4:c.16753C>T	p.Arg5585Cys	p.R5585C	ENST00000344113	NM_015180.4	5585	Cgc/Tgc	0			1			T	R/C	uc001xgm.2	protein_coding		CCDS41963.1			16753/20658									ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14	c.(16753-16755)CGC>TGC			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF264	spectrin repeat containing, nuclear envelope 2				ENSP00000341781		91/115	5.77E-05		0.000605						rs370674900,COSM2153940,COSM3401390	91/115	common_variant		ENST00000344113	Transcript	1		centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	ENSG00000054654	g.chr14:64634098C>T	17084			MODERATE		2.005	medium	getma.org/?cm=msa&ty=f&p=SYNE2_HUMAN&rb=5479&re=5678&var=R5585C	NA	getma.org/?cm=var&var=hg19,14,64634098,C,T&fts=all	R5585C	--	--	1																																		SYNE2_uc001xgl.2_Missense_Mutation_p.R5585C|SYNE2_uc010apy.2_Missense_Mutation_p.R1970C|SYNE2_uc001xgn.2_Missense_Mutation_p.R547C|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_5'UTR|SYNE2_uc001xgq.2_5'Flank	0,1,1			benign(0.038)	p.R5585C	NM_015180	NP_055995			0,1,1	SYNE2_HUMAN	SYNE2	HGNC	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	Q86YP9_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN		91	16983	+			UPI00001B0452	5585			Cytoplasmic (Potential).		SNV	SYNE2,missense_variant,p.Arg1970Cys,ENST00000357395,;SYNE2,missense_variant,p.Arg5585Cys,ENST00000358025,NM_182914.2;SYNE2,missense_variant,p.Arg5585Cys,ENST00000344113,NM_015180.4;SYNE2,missense_variant,p.Arg5460Cys,ENST00000554584,;SYNE2,missense_variant,p.Arg2219Cys,ENST00000555002,;SYNE2,missense_variant,p.Arg1970Cys,ENST00000394768,;ESR2,intron_variant,,ENST00000556275,;ESR2,intron_variant,,ENST00000542956,;SYNE2,non_coding_transcript_exon_variant,,ENST00000556342,;SYNE2,missense_variant,p.Arg547Cys,ENST00000555612,;SYNE2,missense_variant,p.Arg170Cys,ENST00000553289,;SYNE2,downstream_gene_variant,,ENST00000557024,;	uc001xgm.2	c.16753C>T	16965/21777	2	2			c.16753C>T						14	SNP	c.(16753-16755)CGC>TGC	28	28			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14	Broad	spectrin repeat containing, nuclear envelope 2			64634098		0.478	ENSG00000054654	15210	g.chr14:64634098C>T	centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding							123.459557	KEEP	32	17	-1	45	27	32	17	-1	124.527696	45	27	0.394737	1	0	0	0	0	1	0	0	0	--	--		0	T			SYNE2_uc001xgl.2_Missense_Mutation_p.R5585C|SYNE2_uc010apy.2_Missense_Mutation_p.R1970C|SYNE2_uc001xgn.2_Missense_Mutation_p.R547C|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_5'UTR|SYNE2_uc001xgq.2_5'Flank	121	GBM-12-0688-TP	p.R5585C	C	GGCACTGGAGCGCTGCAGGTT	NM_015180	NP_055995	64634098	Q8WXH0	SYNE2_HUMAN	0		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	91	16983	+	T	T			Missense_Mutation	5585			Cytoplasmic (Potential).			
SYNE2	0	broad.mit.edu	GRCh37	14	64686074	64686074	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344113.4:c.19737G>A	p.Met6579Ile	p.M6579I	ENST00000344113	NM_015180.4	6579	atG/atA	0			1			A	M/I	uc001xgm.2	protein_coding		CCDS41963.1			19737/20658									ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14	c.(19735-19737)ATG>ATA			Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF264,SMART_domains:SM00150,Superfamily_domains:SSF46966	spectrin repeat containing, nuclear envelope 2				ENSP00000341781		109/115									COSM3401391,COSM3401393,COSM3401392	109/115	.		ENST00000344113	Transcript	1		centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	ENSG00000054654	g.chr14:64686074G>A	17084			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=SYNE2_HUMAN&rb=6551&re=6658&var=M6579I	NA	getma.org/?cm=var&var=hg19,14,64686074,G,A&fts=all	M6579I	--	--	1																																		SYNE2_uc001xgl.2_Missense_Mutation_p.M6602I|SYNE2_uc010apy.2_Missense_Mutation_p.M2964I|SYNE2_uc001xgn.2_Missense_Mutation_p.M1541I|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.M549I|SYNE2_uc001xgq.2_Missense_Mutation_p.M944I|SYNE2_uc001xgr.2_Missense_Mutation_p.M362I|SYNE2_uc010tsi.1_Missense_Mutation_p.M236I|SYNE2_uc001xgs.2_Missense_Mutation_p.M236I|SYNE2_uc001xgt.2_Missense_Mutation_p.M110I	1,1,1			benign(0.063)	p.M6579I	NM_015180	NP_055995			1,1,1	SYNE2_HUMAN	SYNE2	HGNC	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	Q86YP9_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN		109	19967	+			UPI00001B0452	6579			Cytoplasmic (Potential).|Spectrin 9.		SNV	SYNE2,missense_variant,p.Met2964Ile,ENST00000357395,;SYNE2,missense_variant,p.Met6602Ile,ENST00000358025,NM_182914.2;SYNE2,missense_variant,p.Met6579Ile,ENST00000344113,NM_015180.4;SYNE2,missense_variant,p.Met6495Ile,ENST00000554584,;SYNE2,missense_variant,p.Met3236Ile,ENST00000555002,;SYNE2,missense_variant,p.Met2964Ile,ENST00000394768,;SYNE2,missense_variant,p.Met457Ile,ENST00000555022,;SYNE2,missense_variant,p.Met362Ile,ENST00000554805,;SYNE2,missense_variant,p.Met110Ile,ENST00000441438,NM_182910.2;SYNE2,missense_variant,p.Met236Ile,ENST00000458046,NM_182913.2;ESR2,intron_variant,,ENST00000556275,;ESR2,intron_variant,,ENST00000542956,;SYNE2,3_prime_UTR_variant,,ENST00000555612,;SYNE2,3_prime_UTR_variant,,ENST00000553289,;SYNE2,non_coding_transcript_exon_variant,,ENST00000554928,;SYNE2,downstream_gene_variant,,ENST00000557084,;SYNE2,downstream_gene_variant,,ENST00000557307,;	uc001xgm.2	c.19737G>A	19949/21777	1	1			c.19737G>A						14	SNP	c.(19735-19737)ATG>ATA	59	59			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14	Broad	spectrin repeat containing, nuclear envelope 2			64686074		0.433	ENSG00000054654	15210	g.chr14:64686074G>A	centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding							55.710074	KEEP	14	9	-1	26	12	14	9	-1	56.644752	26	12	0.358491	1	0	0	0	0	1	0	0	0	--	--		0	A			SYNE2_uc001xgl.2_Missense_Mutation_p.M6602I|SYNE2_uc010apy.2_Missense_Mutation_p.M2964I|SYNE2_uc001xgn.2_Missense_Mutation_p.M1541I|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.M549I|SYNE2_uc001xgq.2_Missense_Mutation_p.M944I|SYNE2_uc001xgr.2_Missense_Mutation_p.M362I|SYNE2_uc010tsi.1_Missense_Mutation_p.M236I|SYNE2_uc001xgs.2_Missense_Mutation_p.M236I|SYNE2_uc001xgt.2_Missense_Mutation_p.M110I	162	GBM-19-2620-TP	p.M6579I	G	TGTTAAAGATGGCAAAGCCTC	NM_015180	NP_055995	64686074	Q8WXH0	SYNE2_HUMAN	0		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	109	19967	+	A	A			Missense_Mutation	6579			Cytoplasmic (Potential).|Spectrin 9.			
SYNE2	0	broad.mit.edu	GRCh37	14	64430685	64430685	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-19-5955-01	TCGA-19-5955-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344113.4:c.957T>C	p.Asp319=	p.D319=	ENST00000344113	NM_015180.4	319	gaT/gaC	0			1			C	D	uc001xgm.2	protein_coding		CCDS41963.1			957/20658									ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14	c.(955-957)GAT>GAC			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF264	spectrin repeat containing, nuclear envelope 2				ENSP00000341781		10/115									COSM3401386	10/115	.		ENST00000344113	Transcript	1		centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	ENSG00000054654	g.chr14:64430685T>C	17084			LOW								--	--	1																																		SYNE2_uc001xgl.2_Silent_p.D319D	1				p.D319D	NM_015180	NP_055995			1	SYNE2_HUMAN	SYNE2	HGNC	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	Q86YP9_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN		10	1187	+			UPI00001B0452	319			Potential.|Cytoplasmic (Potential).		SNV	SYNE2,synonymous_variant,p.=,ENST00000358025,NM_182914.2;SYNE2,synonymous_variant,p.=,ENST00000344113,NM_015180.4;SYNE2,synonymous_variant,p.=,ENST00000554584,;SYNE2,5_prime_UTR_variant,,ENST00000357395,;SYNE2,downstream_gene_variant,,ENST00000341472,;	uc001xgm.2	c.957T>C	1169/21777	4	4			c.957T>C						14	SNP	c.(955-957)GAT>GAC	41	41			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14	Broad	spectrin repeat containing, nuclear envelope 2			64430685		0.308	ENSG00000054654	15210	g.chr14:64430685T>C	centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding							14.82208	KEEP	2	5	-1	16	24	2	5	-1	19.010788	16	24	0.170732	1	0	0	0	0	0	0	1	0	--	--		0	C			SYNE2_uc001xgl.2_Silent_p.D319D	175	GBM-19-5955-TP	p.D319D	T	TGCTAAAGGATTCAGAGAATG	NM_015180	NP_055995	64430685	Q8WXH0	SYNE2_HUMAN	0		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	10	1187	+	C	C			Silent	319			Potential.|Cytoplasmic (Potential).			
SYNE2	0	broad.mit.edu	GRCh37	14	64497733	64497733	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A			TCGA-28-5211-01	TCGA-28-5211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344113.4:c.6880-1G>A		p.X2294_splice	ENST00000344113	NM_015180.4			0			1			A		uc001xgm.2	protein_coding		CCDS41963.1			6880/20658									ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14	c.e45-1				spectrin repeat containing, nuclear envelope 2				ENSP00000341781											COSM3401388		.		ENST00000344113	Transcript	1		centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	ENSG00000054654	g.chr14:64497733G>A	17084			HIGH	44/114							--	--	1																																		SYNE2_uc001xgl.2_Splice_Site_p.E2294_splice	1				p.E2294_splice	NM_015180	NP_055995			1	SYNE2_HUMAN	SYNE2	HGNC	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	Q86YP9_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN		45	7110	+			UPI00001B0452						SNV	SYNE2,splice_acceptor_variant,,ENST00000357395,;SYNE2,splice_acceptor_variant,,ENST00000358025,NM_182914.2;SYNE2,splice_acceptor_variant,,ENST00000344113,NM_015180.4;SYNE2,splice_acceptor_variant,,ENST00000554584,;SYNE2,splice_acceptor_variant,,ENST00000557005,;	uc001xgm.2	c.6880_splice	-/21777	5	2			c.6880_splice						14	SNP	c.e45-1	24	24			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14	Broad	spectrin repeat containing, nuclear envelope 2			64497733		0.353	ENSG00000054654	15210	g.chr14:64497733G>A	centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding							35.193164	KEEP	9	11	-1	31	19	9	11	-1	38.781048	31	19	0.245902	1	0	0	0	0	0	0	0	1	--	--		0	A			SYNE2_uc001xgl.2_Splice_Site_p.E2294_splice	219	GBM-28-5211-TP	p.E2294_splice	G	TCCACTCGTAGGAACTAGAGA	NM_015180	NP_055995	64497733	Q8WXH0	SYNE2_HUMAN	0		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	45	7110	+	A	A			Splice_Site							
SYNE2	23224		GRCh37	14	64450574	64450574	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000358025.3:c.2121A>G	p.Glu707=	p.E707=	ENST00000358025	NM_182914.2	707	gaA/gaG	0																																																																																																																																																																																																																																												
SYNE3	161176	broad.mit.edu	GRCh37	14	95922000	95922000	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs143391386		TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334258.5:c.851C>T	p.Ala284Val	p.A284V	ENST00000334258	NM_152592.3	284	gCg/gTg	0	A:0.0002		1			A	A/V	uc001yei.3	protein_coding	YES	CCDS9935.1			851/2928									central_nervous_system(1)	1	c.(850-852)GCG>GTG			Superfamily_domains:SSF46966,SMART_domains:SM00150,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF245	nesprin-3			A:0	ENSP00000334308		17-May	6.59E-05	0.000193	0.000173			1.50E-05		0.000182	rs143391386,COSM3401560,COSM3401561,COSM3401562	17-May	.		ENST00000334258	Transcript			cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding	ENSG00000176438	g.chr14:95922000G>A	19861			MODERATE		-1.59	neutral	getma.org/?cm=msa&ty=f&p=SYNE3_HUMAN&rb=201&re=400&var=A284V	NA	getma.org/?cm=var&var=hg19,14,95922000,G,A&fts=all	A284V	--	--	1																																		C14orf49_uc010avi.2_Missense_Mutation_p.A284V|C14orf49_uc001yej.1_Missense_Mutation_p.A284V	0,1,1,1	1		benign(0)	p.A284V	NM_152592	NP_689805		tolerated(0.61)	0,1,1,1	SYNE3_HUMAN	SYNE3	HGNC	Q6ZMZ3	SYNE3_HUMAN		COAD - Colon adenocarcinoma(157;0.245)			5	866	-		all_cancers(154;0.0937)	UPI0000246F54	284			Spectrin 1.|Cytoplasmic (Potential).		SNV	SYNE3,missense_variant,p.Ala284Val,ENST00000334258,NM_152592.3;SYNE3,missense_variant,p.Ala284Val,ENST00000557275,;SYNE3,missense_variant,p.Ala41Val,ENST00000554873,;SYNE3,missense_variant,p.Ala284Val,ENST00000553340,;SYNE3,non_coding_transcript_exon_variant,,ENST00000555759,;	uc001yei.3	c.851C>T	866/3275	1	1			c.851C>T						14	SNP	c.(850-852)GCG>GTG	62	62			central_nervous_system(1)	1	Broad	nesprin-3			95922000		0.567	ENSG00000176438	1739	g.chr14:95922000G>A	cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding							-33.414715	KEEP	4	8	-1	89	145	4	8	-1	14.785118	89	145	0.042254	1	0	0	0	0	1	0	0	0	--	--		0	A			C14orf49_uc010avi.2_Missense_Mutation_p.A284V|C14orf49_uc001yej.1_Missense_Mutation_p.A284V	102	GBM-06-5858-TP	p.A284V	G	AATGACACCCGCAGACTGCTC	NM_152592	NP_689805	95922000	Q6ZMZ3	SYNE3_HUMAN	0		COAD - Colon adenocarcinoma(157;0.245)	5	866	-	A	A		all_cancers(154;0.0937)	Missense_Mutation	284			Spectrin 1.|Cytoplasmic (Potential).			
SYNE3	0	broad.mit.edu	GRCh37	14	95899695	95899695	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs141951711		TCGA-12-0619-01	TCGA-12-0619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334258.5:c.2590C>T	p.Arg864Cys	p.R864C	ENST00000334258	NM_152592.3	864	Cgt/Tgt	0	A:0.0002		1			A	R/C	uc001yei.3	protein_coding	YES	CCDS9935.1			2590/2928									central_nervous_system(1)	1	c.(2590-2592)CGT>TGT			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF245	nesprin-3			A:0	ENSP00000334308		15/17	6.59E-05	9.62E-05	8.64E-05			6.00E-05		0.000121	rs141951711,COSM1707844,COSM1707842,COSM1707843	15/17	.		ENST00000334258	Transcript			cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding	ENSG00000176438	g.chr14:95899695G>A	19861			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=SYNE3_HUMAN&rb=747&re=916&var=R864C	NA	getma.org/?cm=var&var=hg19,14,95899695,G,A&fts=all	R864C	--	--	1																																		C14orf49_uc010avi.2_Missense_Mutation_p.R859C	0,1,1,1	1		possibly_damaging(0.776)	p.R864C	NM_152592	NP_689805		tolerated(0.1)	0,1,1,1	SYNE3_HUMAN	SYNE3	HGNC	Q6ZMZ3	SYNE3_HUMAN		COAD - Colon adenocarcinoma(157;0.245)			15	2605	-		all_cancers(154;0.0937)	UPI0000246F54	864			Cytoplasmic (Potential).		SNV	SYNE3,missense_variant,p.Arg864Cys,ENST00000334258,NM_152592.3;SYNE3,missense_variant,p.Arg859Cys,ENST00000557275,;SYNE3,missense_variant,p.Arg621Cys,ENST00000554873,;SYNE3,downstream_gene_variant,,ENST00000555759,;	uc001yei.3	c.2590C>T	2605/3275	2	2			c.2590C>T						14	SNP	c.(2590-2592)CGT>TGT	42	42			central_nervous_system(1)	1	Broad	nesprin-3			95899695		0.597	ENSG00000176438	1739	g.chr14:95899695G>A	cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding							246.123495	KEEP	50	44	-1	79	61	50	44	-1	248.527979	79	61	0.385714	1	0	0	0	0	1	0	0	0	--	--		0	A			C14orf49_uc010avi.2_Missense_Mutation_p.R859C	120	GBM-12-0619-TP	p.R864C	G	GGCCCGAGACGAAGGAGGTTC	NM_152592	NP_689805	95899695	Q6ZMZ3	SYNE3_HUMAN	0		COAD - Colon adenocarcinoma(157;0.245)	15	2605	-	A	A		all_cancers(154;0.0937)	Missense_Mutation	864			Cytoplasmic (Potential).			
SYNE3	161176		GRCh37	14	95884310	95884310	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000334258.5:c.2781G>T	p.Ala927=	p.A927=	ENST00000334258	NM_152592.3	927	gcG/gcT	0																																																																																																																																																																																																																																												
SYNGAP1	8831		GRCh37	6	33405652	33405652	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000418600.2:c.970C>T	p.Arg324Trp	p.R324W	ENST00000418600	NM_006772.2	324	Cgg/Tgg	0																																																																																																																																																																																																																																												
SYNGR4	0	broad.mit.edu	GRCh37	19	48878966	48878966	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5214-01	TCGA-28-5214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344846.2:c.428C>T	p.Ala143Val	p.A143V	ENST00000344846	NM_012451.3	143	gCc/gTc	0			1			T	A/V	uc002piz.2	protein_coding	YES	CCDS12717.1			428/705										0	c.(427-429)GCC>GTC			Pfam_domain:PF01284,PIRSF_domain:PIRSF011282,PROSITE_profiles:PS51225,hmmpanther:PTHR10838,hmmpanther:PTHR10838:SF2,Transmembrane_helices:TMhelix	synaptogyrin 4				ENSP00000344041		5-Apr									COSM1525552	5-Apr	.		ENST00000344846	Transcript				integral to membrane		ENSG00000105467	g.chr19:48878966C>T	11502			MODERATE		1.915	medium	getma.org/?cm=msa&ty=f&p=SNG4_HUMAN&rb=18&re=163&var=A143V	NA	getma.org/?cm=var&var=hg19,19,48878966,C,T&fts=all	A143V	--	--	1																																			1	1		benign(0.376)	p.A143V	NM_012451	NP_036583		deleterious(0.02)	1	SNG4_HUMAN	SYNGR4	HGNC	O95473	SNG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)	M0QYL0_HUMAN		4	673	+		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	UPI000013C7EB	143			MARVEL.		SNV	SYNGR4,missense_variant,p.Ala143Val,ENST00000344846,NM_012451.3;SYNGR4,missense_variant,p.Ala94Val,ENST00000601610,;SYNGR4,intron_variant,,ENST00000595322,;SYNGR4,downstream_gene_variant,,ENST00000600863,;	uc002piz.2	c.428C>T	678/1000	2	2			c.428C>T						19	SNP	c.(427-429)GCC>GTC	24	24				0	Broad	synaptogyrin 4			48878966		0.612	ENSG00000105467	15215	g.chr19:48878966C>T		integral to membrane								109.348961	KEEP	29	30	-1	105	111	29	30	-1	128.515772	105	111	0.210526	1	0	0	0	0	1	0	0	0	--	--		0	T				221	GBM-28-5214-TP	p.A143V	C	AGCAGCAGTGCCCAGGCAGCC	NM_012451	NP_036583	48878966	O95473	SNG4_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)	4	673	+	T	T		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	Missense_Mutation	143			MARVEL.			
SYNJ2	8871	broad.mit.edu	GRCh37	6	158483196	158483196	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01	TCGA-02-2470-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355585.4:c.1127G>A	p.Arg376His	p.R376H	ENST00000355585	NM_001178088.1	376	cGt/cAt	0			1			A	R/H	uc003qqx.1	protein_coding	YES	CCDS5254.1			1127/4491									skin(1)	1	c.(1126-1128)CGT>CAT			PROSITE_profiles:PS50275,hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF98	synaptojanin 2				ENSP00000347792		27-Aug									COSM2149100,COSM2149101	27-Aug	.		ENST00000355585	Transcript					nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	ENSG00000078269	g.chr6:158483196G>A	11504			MODERATE		2.25	medium	getma.org/?cm=msa&ty=f&p=SYNJ2_HUMAN&rb=120&re=444&var=R376H	getma.org/pdb.php?prot=SYNJ2_HUMAN&from=120&to=444&var=R376H	getma.org/?cm=var&var=hg19,6,158483196,G,A&fts=all	R376H	--	--	1																																		SYNJ2_uc011efm.1_RNA|SYNJ2_uc003qqw.1_Missense_Mutation_p.R376H|SYNJ2_uc003qqy.1_Missense_Mutation_p.R89H|SYNJ2_uc011efn.1_Missense_Mutation_p.R304H|SYNJ2_uc010kjo.1_Missense_Mutation_p.R325H|SYNJ2_uc003qqz.1_5'UTR	1,1	1		benign(0.07)	p.R376H	NM_003898	NP_003889		deleterious(0.01)	1,1	SYNJ2_HUMAN	SYNJ2	HGNC	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	B4DLC4_HUMAN		8	1202	+			UPI000006E2F8	376			SAC.		SNV	SYNJ2,missense_variant,p.Arg376His,ENST00000355585,NM_001178088.1,NM_003898.3;SYNJ2,missense_variant,p.Arg376His,ENST00000367122,;SYNJ2,missense_variant,p.Arg376His,ENST00000367121,;SYNJ2,missense_variant,p.Arg304His,ENST00000449859,;SYNJ2,splice_region_variant,,ENST00000485863,;	uc003qqx.1	c.1127G>A	1202/7378	1	1			c.1127G>A						6	SNP	c.(1126-1128)CGT>CAT	64	64			skin(1)	1	Broad	synaptojanin 2			158483196		0.607	ENSG00000078269	15217	g.chr6:158483196G>A			nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding							91.573229	KEEP	25	15	-1	79	79	25	15	-1	106.247562	79	79	0.206522	1	0	0	0	0	1	0	0	0	--	--		0	A			SYNJ2_uc011efm.1_RNA|SYNJ2_uc003qqw.1_Missense_Mutation_p.R376H|SYNJ2_uc003qqy.1_Missense_Mutation_p.R89H|SYNJ2_uc011efn.1_Missense_Mutation_p.R304H|SYNJ2_uc010kjo.1_Missense_Mutation_p.R325H|SYNJ2_uc003qqz.1_5'UTR	5	GBM-02-2470-TP	p.R376H	G	GTCAGTCCACGGTGAGGCTCG	NM_003898	NP_003889	158483196	O15056	SYNJ2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	8	1202	+	A	A			Missense_Mutation	376			SAC.			
SYNJ2	0	broad.mit.edu	GRCh37	6	158483053	158483053	+	synonymous_variant	Silent	SNP	C	C	T	rs142499089		TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355585.4:c.984C>T	p.Gly328=	p.G328=	ENST00000355585	NM_001178088.1	328	ggC/ggT	0	T:0.0002		1			T	G	uc003qqx.1	protein_coding	YES	CCDS5254.1			984/4491									skin(1)	1	c.(982-984)GGC>GGT			Pfam_domain:PF02383,PROSITE_profiles:PS50275,hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF98	synaptojanin 2			T:0	ENSP00000347792		27-Aug									rs142499089,COSM3410738	27-Aug	.		ENST00000355585	Transcript					nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	ENSG00000078269	g.chr6:158483053C>T	11504			LOW								--	--	1																																		SYNJ2_uc011efm.1_Intron|SYNJ2_uc003qqw.1_Silent_p.G328G|SYNJ2_uc003qqy.1_Silent_p.G41G|SYNJ2_uc011efn.1_Intron|SYNJ2_uc010kjo.1_Silent_p.G277G|SYNJ2_uc003qqz.1_5'UTR	0,1	1			p.G328G	NM_003898	NP_003889			0,1	SYNJ2_HUMAN	SYNJ2	HGNC	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	B4DLC4_HUMAN		8	1059	+			UPI000006E2F8	328			SAC.		SNV	SYNJ2,synonymous_variant,p.=,ENST00000355585,NM_001178088.1,NM_003898.3;SYNJ2,synonymous_variant,p.=,ENST00000367122,;SYNJ2,synonymous_variant,p.=,ENST00000367121,;SYNJ2,intron_variant,,ENST00000449859,;SYNJ2,intron_variant,,ENST00000485863,;	uc003qqx.1	c.984C>T	1059/7378	2	2			c.984C>T						6	SNP	c.(982-984)GGC>GGT	46	46			skin(1)	1	Broad	synaptojanin 2			158483053		0.388	ENSG00000078269	15217	g.chr6:158483053C>T			nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding							774.016002	KEEP	135	149	-1	22	29	135	149	-1	807.646313	22	29	0.851064	1	0	0	0	0	0	0	1	0	--	--		0	T			SYNJ2_uc011efm.1_Intron|SYNJ2_uc003qqw.1_Silent_p.G328G|SYNJ2_uc003qqy.1_Silent_p.G41G|SYNJ2_uc011efn.1_Intron|SYNJ2_uc010kjo.1_Silent_p.G277G|SYNJ2_uc003qqz.1_5'UTR	218	GBM-28-5209-TP	p.G328G	C	GCCACGCGGGCGACACGCCTA	NM_003898	NP_003889	158483053	O15056	SYNJ2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	8	1059	+	T	T			Silent	328			SAC.			
SYNJ2	0	broad.mit.edu	GRCh37	6	158438287	158438287	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs143362296	byFrequency	TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355585.4:c.179C>T	p.Ala60Val	p.A60V	ENST00000355585	NM_001178088.1	60	gCg/gTg	0	T:0.0007	T:0	1	T:0.0014		T	A/V	uc003qqx.1	protein_coding	YES	CCDS5254.1			179/4491									skin(1)	1	c.(178-180)GCG>GTG			Pfam_domain:PF02383	synaptojanin 2		T:0	T:0.0028	ENSP00000347792	T:0.001	27-Feb									rs143362296,COSM2157356	27-Feb	.		ENST00000355585	Transcript		T:0.0006			nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	ENSG00000078269	g.chr6:158438287C>T	11504			MODERATE		2.38	medium	getma.org/?cm=msa&ty=f&p=SYNJ2_HUMAN&rb=60&re=348&var=A60V	NA	getma.org/?cm=var&var=hg19,6,158438287,C,T&fts=all	A60V	--	--	1																																		SYNJ2_uc011efm.1_RNA|SYNJ2_uc003qqw.1_Missense_Mutation_p.A60V|SYNJ2_uc003qqy.1_5'UTR|SYNJ2_uc011efn.1_5'Flank|SYNJ2_uc010kjo.1_5'Flank	0,1	1		benign(0.106)	p.A60V	NM_003898	NP_003889	T:0.001	deleterious(0.04)	0,1	SYNJ2_HUMAN	SYNJ2	HGNC	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	B4DLC4_HUMAN		2	254	+			UPI000006E2F8	60					SNV	SYNJ2,missense_variant,p.Ala60Val,ENST00000355585,NM_001178088.1,NM_003898.3;SYNJ2,missense_variant,p.Ala60Val,ENST00000367122,;SYNJ2,missense_variant,p.Ala60Val,ENST00000367121,;SYNJ2,missense_variant,p.Ala35Val,ENST00000367113,;SYNJ2,upstream_gene_variant,,ENST00000449859,;SYNJ2,upstream_gene_variant,,ENST00000449320,;	uc003qqx.1	c.179C>T	254/7378	2	2			c.179C>T						6	SNP	c.(178-180)GCG>GTG	24	24			skin(1)	1	Broad	synaptojanin 2			158438287		0.602	ENSG00000078269	15217	g.chr6:158438287C>T			nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding							17.984627	KEEP	5	5	-1	19	15	5	5	-1	20.926458	19	15	0.210526	1	0	0	0	0	1	0	0	0	--	--		0	T			SYNJ2_uc011efm.1_RNA|SYNJ2_uc003qqw.1_Missense_Mutation_p.A60V|SYNJ2_uc003qqy.1_5'UTR|SYNJ2_uc011efn.1_5'Flank|SYNJ2_uc010kjo.1_5'Flank	246	GBM-32-4211-TP	p.A60V	C	CTCACGGACGCGTACGGCTGC	NM_003898	NP_003889	158438287	O15056	SYNJ2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	2	254	+	T	T			Missense_Mutation	60						
SYNJ2BP	55333	broad.mit.edu	GRCh37	14	70839825	70839825	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0881-01	TCGA-06-0881-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256366.4:c.321A>G	p.Ile107Met	p.I107M	ENST00000256366	NM_018373.2	107	atA/atG	0			1			C	I/M	uc001xmc.3	protein_coding	YES	CCDS9803.1			321/438										0	c.(319-321)ATA>ATG				synaptojanin 2 binding protein				ENSP00000256366		4-Apr									COSM3401441	4-Apr	.		ENST00000256366	Transcript				integral to membrane|mitochondrial outer membrane		ENSG00000213463	g.chr14:70839825T>C	18955			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=SYJ2B_HUMAN&rb=98&re=145&var=I107M	NA	getma.org/?cm=var&var=hg19,14,70839825,T,C&fts=all	I107M	--	--	1																																		SYNJ2BP_uc010arc.2_RNA	1	1		benign(0.031)	p.I107M	NM_018373	NP_060843		tolerated(0.09)	1	SYJ2B_HUMAN	SYNJ2BP	HGNC	P57105	SYJ2B_HUMAN		all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)			4	448	-			UPI00000373B1	107			Cytoplasmic (Potential).		SNV	SYNJ2BP,missense_variant,p.Ile107Met,ENST00000256366,NM_018373.2;SYNJ2BP,non_coding_transcript_exon_variant,,ENST00000554216,;SYNJ2BP-COX16,intron_variant,,ENST00000555276,;	uc001xmc.3	c.321A>G	403/2080	3	3			c.321A>G						14	SNP	c.(319-321)ATA>ATG	63	63				0	Broad	synaptojanin 2 binding protein			70839825		0.473	ENSG00000213463	15218	g.chr14:70839825T>C		integral to membrane|mitochondrial outer membrane								-28.992288	KEEP	1	2	-1	79	64	1	2	-1	6.548475	79	64	0.021583	1	0	0	0	0	1	0	0	0	--	--		0	C			SYNJ2BP_uc010arc.2_RNA	76	GBM-06-0881-TP	p.I107M	T	CTCGATGTCCTATAGGTCCAT	NM_018373	NP_060843	70839825	P57105	SYJ2B_HUMAN	0		all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)	4	448	-	C	C			Missense_Mutation	107			Cytoplasmic (Potential).			
SYNM	23336	broad.mit.edu	GRCh37	15	99670079	99670079	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0648-01	TCGA-06-0648-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336292.6:c.1511C>T	p.Thr504Met	p.T504M	ENST00000336292	NM_145728.2	504	aCg/aTg	0			1			T	T/M	uc002bup.2	protein_coding	YES				1511/4695									ovary(3)|central_nervous_system(1)	4	c.(1513-1515)ACG>ATG			hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF93	desmuslin isoform A				ENSP00000336775		5-May	4.14E-05	0.000324						0.000125	rs782617752,COSM3402043,COSM3402042	5-May	.		ENST00000336292	Transcript			intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	ENSG00000182253	g.chr15:99670079C>T	24466			MODERATE								--	--	1																																		SYNM_uc002buo.2_Missense_Mutation_p.T505M|SYNM_uc002buq.2_Intron	0,1,1	1		benign(0.139)	p.T505M	NM_145728	NP_663780		tolerated(0.05)	0,1,1	SYNEM_HUMAN	SYNM	HGNC	O15061	SYNEM_HUMAN					6	1634	+			UPI00001B03B3	505			Tail.		SNV	SYNM,missense_variant,p.Thr504Met,ENST00000336292,NM_145728.2;SYNM,missense_variant,p.Thr504Met,ENST00000328642,NM_015286.5;SYNM,missense_variant,p.Thr219Met,ENST00000560674,;RP11-6O2.4,non_coding_transcript_exon_variant,,ENST00000566974,;SYNM,non_coding_transcript_exon_variant,,ENST00000561323,;SYNM,non_coding_transcript_exon_variant,,ENST00000558420,;SYNM,intron_variant,,ENST00000561306,;	uc002bup.2	c.1514C>T	1631/7322	1	1			c.1514C>T						15	SNP	c.(1513-1515)ACG>ATG	8	8			ovary(3)|central_nervous_system(1)	4	Broad	desmuslin isoform A			99670079		0.488	ENSG00000182253	15219	g.chr15:99670079C>T	intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	Pancreas(125;1071 1762 21750 40003 40381)			Pancreas(125;1071 1762 21750 40003 40381)			10.452659	KEEP	1	4	-1	9	9	1	4	-1	11.781371	9	9	0.238095	1	0	0	0	0	1	0	0	0	--	--		0	T			SYNM_uc002buo.2_Missense_Mutation_p.T505M|SYNM_uc002buq.2_Intron	61	GBM-06-0648-TP	p.T505M	C	GTGAAAGCCACGAGGGAGCAA	NM_145728	NP_663780	99670079	O15061	SYNEM_HUMAN	0			6	1634	+	T	T			Missense_Mutation	505			Tail.			
SYNM	23336	broad.mit.edu	GRCh37	15	99672043	99672043	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0744-01	TCGA-06-0744-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336292.6:c.3475C>A	p.Gln1159Lys	p.Q1159K	ENST00000336292	NM_145728.2	1159	Cag/Aag	0			1			A	Q/K	uc002bup.2	protein_coding	YES				3475/4695									ovary(3)|central_nervous_system(1)	4	c.(3478-3480)CAG>AAG			hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF93	desmuslin isoform A				ENSP00000336775		5-May									COSM3747983	5-May	.		ENST00000336292	Transcript			intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	ENSG00000182253	g.chr15:99672043C>A	24466			MODERATE								--	--	1																																		SYNM_uc002buo.2_Intron|SYNM_uc002buq.2_Intron	1	1		benign(0.007)	p.Q1160K	NM_145728	NP_663780		tolerated(0.06)	1	SYNEM_HUMAN	SYNM	HGNC	O15061	SYNEM_HUMAN					6	3598	+			UPI00001B03B3	1160			Tail.|Interaction with TLN1 and VCL.		SNV	SYNM,missense_variant,p.Gln1159Lys,ENST00000336292,NM_145728.2;SYNM,intron_variant,,ENST00000328642,NM_015286.5;SYNM,intron_variant,,ENST00000560674,;TTC23,downstream_gene_variant,,ENST00000394132,NM_001288615.1,NM_001288616.1;TTC23,downstream_gene_variant,,ENST00000394136,NM_001040658.1,NM_001040655.1,NM_022905.4;TTC23,downstream_gene_variant,,ENST00000262074,NM_001040660.1,NM_001040657.1;TTC23,downstream_gene_variant,,ENST00000558613,NM_001040656.1,NM_001040659.1;RP11-6O2.4,upstream_gene_variant,,ENST00000566974,;SYNM,non_coding_transcript_exon_variant,,ENST00000561323,;SYNM,intron_variant,,ENST00000558420,;SYNM,intron_variant,,ENST00000561306,;TTC23,downstream_gene_variant,,ENST00000459771,;TTC23,downstream_gene_variant,,ENST00000494567,;	uc002bup.2	c.3478C>A	3595/7322	2	2			c.3478C>A						15	SNP	c.(3478-3480)CAG>AAG	18	18			ovary(3)|central_nervous_system(1)	4	Broad	desmuslin isoform A			99672043		0.587	ENSG00000182253	15219	g.chr15:99672043C>A	intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	Pancreas(125;1071 1762 21750 40003 40381)			Pancreas(125;1071 1762 21750 40003 40381)			59.858946	KEEP	14	8	0.363636364	20	17	14	8	0.363636364	60.533665	20	17	0.381818	1	0	0	0	0	1	0	0	0	--	--		0	A			SYNM_uc002buo.2_Intron|SYNM_uc002buq.2_Intron	66	GBM-06-0744-TP	p.Q1160K	C	TGACCTAAGTCAGGCAGCGAG	NM_145728	NP_663780	99672043	O15061	SYNEM_HUMAN	0			6	3598	+	A	A			Missense_Mutation	1160			Tail.|Interaction with TLN1 and VCL.			
SYNM	0	broad.mit.edu	GRCh37	15	99671205	99671205	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-2518-01	TCGA-27-2518-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336292.6:c.2637C>T	p.Asp879=	p.D879=	ENST00000336292	NM_145728.2	879	gaC/gaT	0	T:0.0002	T:0	1	T:0		T	D	uc002bup.2	protein_coding	YES				2637/4695									ovary(3)|central_nervous_system(1)	4	c.(2638-2640)GAC>GAT			hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF93	desmuslin isoform A		T:0	T:0.0001	ENSP00000336775	T:0	5-May	0.000711	0.000343				0.000114	0.00243	0.00492	rs376601188,COSM3402045,COSM3402044	5-May	common_variant		ENST00000336292	Transcript		T:0.0002	intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	ENSG00000182253	g.chr15:99671205C>T	24466			LOW								--	--	1																																		SYNM_uc002buo.2_Silent_p.D880D|SYNM_uc002buq.2_Intron	0,1,1	1			p.D880D	NM_145728	NP_663780	T:0.001		0,1,1	SYNEM_HUMAN	SYNM	HGNC	O15061	SYNEM_HUMAN					6	2760	+			UPI00001B03B3	880			Tail.		SNV	SYNM,synonymous_variant,p.=,ENST00000336292,NM_145728.2;SYNM,synonymous_variant,p.=,ENST00000328642,NM_015286.5;SYNM,synonymous_variant,p.=,ENST00000560674,;RP11-6O2.4,non_coding_transcript_exon_variant,,ENST00000566974,;SYNM,non_coding_transcript_exon_variant,,ENST00000561323,;SYNM,non_coding_transcript_exon_variant,,ENST00000558420,;SYNM,intron_variant,,ENST00000561306,;	uc002bup.2	c.2640C>T	2757/7322	1	1			c.2640C>T						15	SNP	c.(2638-2640)GAC>GAT	6	6			ovary(3)|central_nervous_system(1)	4	Broad	desmuslin isoform A			99671205		0.582	ENSG00000182253	15219	g.chr15:99671205C>T	intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	Pancreas(125;1071 1762 21750 40003 40381)			Pancreas(125;1071 1762 21750 40003 40381)			10.193787	KEEP	3	2	-1	15	13	3	2	-1	13.324053	15	13	0.166667	1	0	0	0	0	0	0	1	0	--	--		0	T			SYNM_uc002buo.2_Silent_p.D880D|SYNM_uc002buq.2_Intron	198	GBM-27-2518-TP	p.D880D	C	CACAGAAGGACGGTGCAGTGG	NM_145728	NP_663780	99671205	O15061	SYNEM_HUMAN	0			6	2760	+	T	T			Silent	880			Tail.			
SYNM	0	broad.mit.edu	GRCh37	15	99669677	99669677	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336292.6:c.1109G>A	p.Ser370Asn	p.S370N	ENST00000336292	NM_145728.2	370	aGc/aAc	0			1			A	S/N	uc002bup.2	protein_coding	YES				1109/4695									ovary(3)|central_nervous_system(1)	4	c.(1111-1113)AGC>AAC			hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF93	desmuslin isoform A				ENSP00000336775		5-May									COSM3402041,COSM3402040	5-May	.		ENST00000336292	Transcript			intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	ENSG00000182253	g.chr15:99669677G>A	24466			MODERATE								--	--	1																																		SYNM_uc002buo.2_Missense_Mutation_p.S371N|SYNM_uc002buq.2_Intron	1,1	1		possibly_damaging(0.48)	p.S371N	NM_145728	NP_663780		deleterious(0.01)	1,1	SYNEM_HUMAN	SYNM	HGNC	O15061	SYNEM_HUMAN					6	1232	+			UPI00001B03B3	371			Tail.		SNV	SYNM,missense_variant,p.Ser370Asn,ENST00000336292,NM_145728.2;SYNM,missense_variant,p.Ser370Asn,ENST00000328642,NM_015286.5;SYNM,missense_variant,p.Ser85Asn,ENST00000560674,;RP11-6O2.4,non_coding_transcript_exon_variant,,ENST00000566974,;SYNM,non_coding_transcript_exon_variant,,ENST00000561323,;SYNM,non_coding_transcript_exon_variant,,ENST00000558420,;SYNM,intron_variant,,ENST00000561306,;	uc002bup.2	c.1112G>A	1229/7322	2	2			c.1112G>A						15	SNP	c.(1111-1113)AGC>AAC	21	21			ovary(3)|central_nervous_system(1)	4	Broad	desmuslin isoform A			99669677		0.463	ENSG00000182253	15219	g.chr15:99669677G>A	intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	Pancreas(125;1071 1762 21750 40003 40381)			Pancreas(125;1071 1762 21750 40003 40381)			-71.61013	KEEP	5	1	-1	157	154	5	1	-1	7.671847	157	154	0.016667	1	0	0	0	0	1	0	0	0	--	--		0	A			SYNM_uc002buo.2_Missense_Mutation_p.S371N|SYNM_uc002buq.2_Intron	240	GBM-32-2632-TP	p.S371N	G	TTCAATCACAGCTCGGCACTG	NM_145728	NP_663780	99669677	O15061	SYNEM_HUMAN	0			6	1232	+	A	A			Missense_Mutation	371			Tail.			
SYNRG	11276	broad.mit.edu	GRCh37	17	35928904	35928904	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0122-01	TCGA-06-0122-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339208.6:c.1470G>C	p.Gln490His	p.Q490H	ENST00000339208	NM_001163544.1	490	caG/caC	0			1			G	Q/H	uc002hoa.2	protein_coding	YES	CCDS11321.1			1470/3945									ovary(2)	2	c.(1468-1470)CAG>CAC			hmmpanther:PTHR15463	synergin, gamma isoform 1				ENSP00000343610		22-Nov									COSM2149221	22-Nov	.		ENST00000339208	Transcript			endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	ENSG00000006114	g.chr17:35928904C>G	557			MODERATE		1.78	low	getma.org/?cm=msa&ty=f&p=SYNRG_HUMAN&rb=1&re=1312&var=Q490H	NA	getma.org/?cm=var&var=hg19,17,35928904,C,G&fts=all	Q490H	--	--	1																																		SYNRG_uc010wde.1_Missense_Mutation_p.Q412H|SYNRG_uc010wdf.1_Missense_Mutation_p.Q412H|SYNRG_uc002hoc.2_Missense_Mutation_p.Q411H|SYNRG_uc002hoe.2_Missense_Mutation_p.Q412H|SYNRG_uc002hod.2_Missense_Mutation_p.Q412H|SYNRG_uc010wdg.1_Missense_Mutation_p.Q329H|SYNRG_uc002hob.2_Missense_Mutation_p.Q490H|SYNRG_uc002hof.2_Missense_Mutation_p.Q202H|SYNRG_uc010cvd.1_Missense_Mutation_p.Q290H|SYNRG_uc002hog.1_Missense_Mutation_p.Q624H	1	1		probably_damaging(0.953)	p.Q490H	NM_007247	NP_009178		deleterious(0.01)	1	SYNRG_HUMAN	SYNRG	HGNC	Q9UMZ2	SYNRG_HUMAN					11	1553	-			UPI000013C4EA	490					SNV	SYNRG,missense_variant,p.Gln490His,ENST00000339208,NM_001163544.1,NM_001163545.1,NM_007247.4;SYNRG,missense_variant,p.Gln490His,ENST00000346661,;SYNRG,missense_variant,p.Gln412His,ENST00000345615,NM_080550.3,NM_001163546.1;SYNRG,missense_variant,p.Gln412His,ENST00000502449,;SYNRG,missense_variant,p.Gln412His,ENST00000394378,NM_198882.1;SYNRG,missense_variant,p.Gln411His,ENST00000585472,;SYNRG,missense_variant,p.Gln329His,ENST00000591288,NM_001163547.1;SYNRG,non_coding_transcript_exon_variant,,ENST00000588194,;SYNRG,non_coding_transcript_exon_variant,,ENST00000587040,;SYNRG,downstream_gene_variant,,ENST00000394379,;SYNRG,non_coding_transcript_exon_variant,,ENST00000378189,;SYNRG,non_coding_transcript_exon_variant,,ENST00000421408,;	uc002hoa.2	c.1470G>C	1611/8229	4	4			c.1470G>C						17	SNP	c.(1468-1470)CAG>CAC	22	22			ovary(2)	2	Broad	synergin, gamma isoform 1			35928904		0.363	ENSG00000006114	15224	g.chr17:35928904C>G	endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding							102.856733	KEEP	24	10	-1	53	28	24	10	-1	106.864994	53	28	0.296296	1	0	0	0	0	1	0	0	0	--	--		0	G			SYNRG_uc010wde.1_Missense_Mutation_p.Q412H|SYNRG_uc010wdf.1_Missense_Mutation_p.Q412H|SYNRG_uc002hoc.2_Missense_Mutation_p.Q411H|SYNRG_uc002hoe.2_Missense_Mutation_p.Q412H|SYNRG_uc002hod.2_Missense_Mutation_p.Q412H|SYNRG_uc010wdg.1_Missense_Mutation_p.Q329H|SYNRG_uc002hob.2_Missense_Mutation_p.Q490H|SYNRG_uc002hof.2_Missense_Mutation_p.Q202H|SYNRG_uc010cvd.1_Missense_Mutation_p.Q290H|SYNRG_uc002hog.1_Missense_Mutation_p.Q624H	10	GBM-06-0122-TP	p.Q490H	C	TGTTTCCATGCTGGGAGTTAC	NM_007247	NP_009178	35928904	Q9UMZ2	SYNRG_HUMAN	0			11	1553	-	G	G			Missense_Mutation	490						
SYP	6855		GRCh37	X	49048188	49048188	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000263233.4:c.648C>T	p.Val216=	p.V216=	ENST00000263233	NM_003179.2	216	gtC/gtT	0																																																																																																																																																																																																																																												
SYT10	0	broad.mit.edu	GRCh37	12	33538180	33538180	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01	TCGA-27-2527-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000228567.3:c.1124C>T	p.Pro375Leu	p.P375L	ENST00000228567	NM_198992.3	375	cCg/cTg	0			1			A	P/L	uc001rll.1	protein_coding	YES	CCDS8732.1			1124/1572									ovary(1)|skin(1)	2	c.(1123-1125)CCG>CTG			hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF46,Gene3D:2.60.40.150,Superfamily_domains:SSF49562	synaptotagmin X				ENSP00000228567		7-Apr	8.24E-06					1.50E-05			rs751735974,COSM3398681	7-Apr	.		ENST00000228567	Transcript				cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	ENSG00000110975	g.chr12:33538180G>A	19266			MODERATE		2.775	medium	getma.org/?cm=msa&ty=f&p=SYT10_HUMAN&rb=365&re=468&var=P375L	getma.org/pdb.php?prot=SYT10_HUMAN&from=365&to=468&var=P375L	getma.org/?cm=var&var=hg19,12,33538180,G,A&fts=all	P375L	--	--	1																																		SYT10_uc009zju.1_Missense_Mutation_p.P185L	0,1	1		probably_damaging(0.999)	p.P375L	NM_198992	NP_945343		deleterious(0)	0,1	SYT10_HUMAN	SYT10	HGNC	Q6XYQ8	SYT10_HUMAN			F5H2A8_HUMAN		4	1421	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		UPI0000052B30	375			C2 2.|Cytoplasmic (Potential).		SNV	SYT10,missense_variant,p.Pro375Leu,ENST00000228567,NM_198992.3;SYT10,missense_variant,p.Pro194Leu,ENST00000535526,;SYT10,3_prime_UTR_variant,,ENST00000539102,;	uc001rll.1	c.1124C>T	1421/4461	1	1			c.1124C>T						12	SNP	c.(1123-1125)CCG>CTG	63	63			ovary(1)|skin(1)	2	Broad	synaptotagmin X			33538180		0.438	ENSG00000110975	15230	g.chr12:33538180G>A		cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity							59.106331	KEEP	9	17	-1	55	59	9	17	-1	71.640829	55	59	0.185185	1	0	0	0	0	1	0	0	0	--	--		0	A			SYT10_uc009zju.1_Missense_Mutation_p.P185L	204	GBM-27-2527-TP	p.P375L	G	CCCAGCCGTCGGTAGGTAACA	NM_198992	NP_945343	33538180	Q6XYQ8	SYT10_HUMAN	0			4	1421	-	A	A	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		Missense_Mutation	375			C2 2.|Cytoplasmic (Potential).			
SYT13	0	broad.mit.edu	GRCh37	11	45268002	45268002	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01	TCGA-19-2629-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000020926.3:c.908G>A	p.Arg303His	p.R303H	ENST00000020926	NM_020826.2	303	cGc/cAc	0			1			T	R/H	uc001myq.2	protein_coding	YES	CCDS31470.1			908/1281									ovary(1)	1	c.(907-909)CGC>CAC			PROSITE_profiles:PS50004,hmmpanther:PTHR10024:SF211,hmmpanther:PTHR10024,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562	synaptotagmin XIII				ENSP00000020926		6-May	8.24E-06					1.50E-05			rs753970325,COSM1979539	6-May	.		ENST00000020926	Transcript				transport vesicle		ENSG00000019505	g.chr11:45268002C>T	14962			MODERATE		2.69	medium	getma.org/?cm=msa&ty=f&p=SYT13_HUMAN&rb=289&re=394&var=R303H	getma.org/pdb.php?prot=SYT13_HUMAN&from=289&to=394&var=R303H	getma.org/?cm=var&var=hg19,11,45268002,C,T&fts=all	R303H	--	--	1																																		SYT13_uc009yku.1_Missense_Mutation_p.R159H	0,1	1		probably_damaging(0.999)	p.R303H	NM_020826	NP_065877		deleterious(0)	0,1	SYT13_HUMAN	SYT13	HGNC	Q7L8C5	SYT13_HUMAN					5	1034	-			UPI000003AC01	303			C2 2.|Cytoplasmic (Potential).		SNV	SYT13,missense_variant,p.Arg303His,ENST00000020926,NM_020826.2,NM_001247987.1;SYT13,3_prime_UTR_variant,,ENST00000533332,;	uc001myq.2	c.908G>A	1020/5144	2	2			c.908G>A						11	SNP	c.(907-909)CGC>CAC	45	45			ovary(1)	1	Broad	synaptotagmin XIII			45268002		0.572	ENSG00000019505	15233	g.chr11:45268002C>T		transport vesicle								2.811089	KEEP	5	4	-1	41	38	5	4	-1	15.762678	41	38	0.090909	1	0	0	0	0	1	0	0	0	--	--		0	T			SYT13_uc009yku.1_Missense_Mutation_p.R159H	166	GBM-19-2629-TP	p.R303H	C	CACCAGGAGGCGGTTGGCAGC	NM_020826	NP_065877	45268002	Q7L8C5	SYT13_HUMAN	0			5	1034	-	T	T			Missense_Mutation	303			C2 2.|Cytoplasmic (Potential).			
SYT13	0	broad.mit.edu	GRCh37	11	45274269	45274269	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-41-4097-01	TCGA-41-4097-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000020926.3:c.549G>T	p.Val183=	p.V183=	ENST00000020926	NM_020826.2	183	gtG/gtT	0			1			A	V	uc001myq.2	protein_coding	YES	CCDS31470.1			549/1281									ovary(1)	1	c.(547-549)GTG>GTT			hmmpanther:PTHR10024:SF211,hmmpanther:PTHR10024,Gene3D:2.60.40.150,Superfamily_domains:SSF49562	synaptotagmin XIII				ENSP00000020926		6-Apr									COSM3397686	6-Apr	.		ENST00000020926	Transcript				transport vesicle		ENSG00000019505	g.chr11:45274269C>A	14962			LOW								--	--	1																																OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	SYT13_uc009yku.1_Silent_p.V39V	1	1			p.V183V	NM_020826	NP_065877			1	SYT13_HUMAN	SYT13	HGNC	Q7L8C5	SYT13_HUMAN					4	675	-			UPI000003AC01	183			Cytoplasmic (Potential).|C2 1.		SNV	SYT13,synonymous_variant,p.=,ENST00000020926,NM_020826.2,NM_001247987.1;SYT13,synonymous_variant,p.=,ENST00000528101,;CTD-2560E9.5,upstream_gene_variant,,ENST00000534342,;CTD-2560E9.5,upstream_gene_variant,,ENST00000531663,;SYT13,3_prime_UTR_variant,,ENST00000533332,;	uc001myq.2	c.549G>T	661/5144	2	2			c.549G>T						11	SNP	c.(547-549)GTG>GTT	48	48			ovary(1)	1	Broad	synaptotagmin XIII			45274269		0.587	ENSG00000019505	15233	g.chr11:45274269C>A		transport vesicle								-8.537367	KEEP	2	1	0.333333333	42	36	2	1	0.333333333	6.595053	42	36	0.044118	1	0	0	0	0	0	0	1	0	--	--		0	A	OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	SYT13_uc009yku.1_Silent_p.V39V	257	GBM-41-4097-TP	p.V183V	C	GGTTGCTGGTCACAGCTGCAG	NM_020826	NP_065877	45274269	Q7L8C5	SYT13_HUMAN	0			4	675	-	A	A			Silent	183			Cytoplasmic (Potential).|C2 1.			
SYT13	0	broad.mit.edu	GRCh37	11	45274024	45274024	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000020926.3:c.794C>T	p.Thr265Ile	p.T265I	ENST00000020926	NM_020826.2	265	aCa/aTa	0			1			A	T/I	uc001myq.2	protein_coding	YES	CCDS31470.1			794/1281									ovary(1)	1	c.(793-795)ACA>ATA			hmmpanther:PTHR10024:SF211,hmmpanther:PTHR10024,Gene3D:2.60.40.150,Superfamily_domains:SSF49562	synaptotagmin XIII				ENSP00000020926		6-Apr									COSM2157512	6-Apr	.		ENST00000020926	Transcript				transport vesicle		ENSG00000019505	g.chr11:45274024G>A	14962			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=SYT13_HUMAN&rb=260&re=303&var=T265I	getma.org/pdb.php?prot=SYT13_HUMAN&from=260&to=303&var=T265I	getma.org/?cm=var&var=hg19,11,45274024,G,A&fts=all	T265I	--	--	1																																OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	SYT13_uc009yku.1_Missense_Mutation_p.T121I	1	1		benign(0.002)	p.T265I	NM_020826	NP_065877		tolerated(0.07)	1	SYT13_HUMAN	SYT13	HGNC	Q7L8C5	SYT13_HUMAN					4	920	-			UPI000003AC01	265			Cytoplasmic (Potential).		SNV	SYT13,missense_variant,p.Thr265Ile,ENST00000020926,NM_020826.2,NM_001247987.1;SYT13,downstream_gene_variant,,ENST00000528101,;CTD-2560E9.5,upstream_gene_variant,,ENST00000534342,;CTD-2560E9.5,upstream_gene_variant,,ENST00000531663,;SYT13,3_prime_UTR_variant,,ENST00000533332,;	uc001myq.2	c.794C>T	906/5144	2	2			c.794C>T						11	SNP	c.(793-795)ACA>ATA	36	36			ovary(1)	1	Broad	synaptotagmin XIII			45274024		0.647	ENSG00000019505	15233	g.chr11:45274024G>A		transport vesicle								340.14205	KEEP	62	67	-1	66	74	62	67	-1	340.315014	66	74	0.471774	1	0	0	0	0	1	0	0	0	--	--		0	A	OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	SYT13_uc009yku.1_Missense_Mutation_p.T121I	265	GBM-76-4925-TP	p.T265I	G	AGGCACAGATGTCCCGTCCAG	NM_020826	NP_065877	45274024	Q7L8C5	SYT13_HUMAN	0			4	920	-	A	A			Missense_Mutation	265			Cytoplasmic (Potential).			
SYT13	57586		GRCh37	11	45273992	45273992	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000020926.3:c.826G>A	p.Glu276Lys	p.E276K	ENST00000020926	NM_020826.2	276	Gag/Aag	0																																																																																																																																																																																																																																												
SYT14	255928	broad.mit.edu	GRCh37	1	210267700	210267700	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs77686387	by1000genomes	TCGA-06-0213-01	TCGA-06-0213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000422431.1:c.611C>T	p.Pro204Leu	p.P204L	ENST00000422431	NM_001146261.2	204	cCg/cTg	0	T:0	T:0	1	T:0		T	P/L	uc009xcv.2	protein_coding		CCDS31014.1			476/1668									ovary(1)|skin(1)	2	c.(475-477)CCG>CTG			hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF209	synaptotagmin XIV isoform 4		T:0.0089	T:0.0002	ENSP00000418901	T:0.001	8-May	0.00047			0.00475		0.000105		0.000546	rs77686387,COSM2150847,COSM3400276,COSM3400277	8-May	common_variant		ENST00000472886	Transcript	1	T:0.0022		integral to membrane		ENSG00000143469	g.chr1:210267700C>T	23143			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=SYT14_HUMAN&rb=1&re=200&var=P159L	NA	getma.org/?cm=var&var=hg19,1,210267700,C,T&fts=all	P159L	--	--	1																																		SYT14_uc001hhs.3_Missense_Mutation_p.P204L|SYT14_uc001hht.3_Missense_Mutation_p.P159L|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Missense_Mutation_p.P204L|SYT14_uc010pso.1_Missense_Mutation_p.P121L	0,1,1,1			benign(0.002)	p.P159L	NM_153262	NP_694994	T:0.001	deleterious(0.04)	0,1,1,1	SYT14_HUMAN	SYT14	HGNC	Q8NB59	SYT14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.085)			5	548	+			UPI0000205DDE	159			Cytoplasmic (Potential).		SNV	SYT14,missense_variant,p.Pro121Leu,ENST00000537238,NM_001256006.1,NM_153262.3;SYT14,missense_variant,p.Pro204Leu,ENST00000422431,NM_001146261.2,NM_001146264.2;SYT14,missense_variant,p.Pro121Leu,ENST00000367015,;SYT14,missense_variant,p.Pro159Leu,ENST00000534859,NM_001146262.2;SYT14,missense_variant,p.Pro159Leu,ENST00000399639,;SYT14,missense_variant,p.Pro159Leu,ENST00000472886,;SYT14,missense_variant,p.Pro159Leu,ENST00000367019,;SYT14,non_coding_transcript_exon_variant,,ENST00000271745,;SYT14,non_coding_transcript_exon_variant,,ENST00000469604,;	uc009xcv.2	c.476C>T	490/2966	1	1			c.476C>T						1	SNP	c.(475-477)CCG>CTG	4	4			ovary(1)|skin(1)	2	Broad	synaptotagmin XIV isoform 4			210267700		0.428	ENSG00000143469	15234	g.chr1:210267700C>T		integral to membrane								58.51121	KEEP	7	14	-1	23	18	7	14	-1	59.445449	23	18	0.358491	1	0	0	0	0	1	0	0	0	--	--		0	T			SYT14_uc001hhs.3_Missense_Mutation_p.P204L|SYT14_uc001hht.3_Missense_Mutation_p.P159L|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Missense_Mutation_p.P204L|SYT14_uc010pso.1_Missense_Mutation_p.P121L	49	GBM-06-0213-TP	p.P159L	C	AGAACACCCCCGCTGGATGAA	NM_153262	NP_694994	210267700	Q8NB59	SYT14_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.085)	5	548	+	T	T			Missense_Mutation	159			Cytoplasmic (Potential).			
SYT16	83851	broad.mit.edu	GRCh37	14	62547795	62547795	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0211-01	TCGA-06-0211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000430451.2:c.1237G>A	p.Val413Ile	p.V413I	ENST00000430451	NM_031914.2	413	Gtc/Atc	0			1			A	V/I	uc001xfu.1	protein_coding	YES	CCDS45121.1			1237/1938									central_nervous_system(1)	1	c.(1237-1239)GTC>ATC			Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF113,SMART_domains:SM00239,Superfamily_domains:SSF49562	synaptotagmin XIV-like				ENSP00000394700		6-Apr	3.30E-05					6.18E-05			rs773454309,COSM2150804,COSM2150803	6-Apr	.		ENST00000430451	Transcript						ENSG00000139973	g.chr14:62547795G>A	23142			MODERATE		1.755	low	getma.org/?cm=msa&ty=f&p=SYT16_HUMAN&rb=367&re=452&var=V413I	getma.org/pdb.php?prot=SYT16_HUMAN&from=367&to=452&var=V413I	getma.org/?cm=var&var=hg19,14,62547795,G,A&fts=all	V413I	--	--	1																																		SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR	0,1,1	1		benign(0.013)	p.V413I	NM_031914	NP_114120		tolerated(0.35)	0,1,1	SYT16_HUMAN	SYT16	HGNC	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)			4	1434	+			UPI0000EE1AC0	413			C2 1.		SNV	SYT16,missense_variant,p.Val413Ile,ENST00000430451,NM_031914.2;SYT16,downstream_gene_variant,,ENST00000446982,;RP11-355I22.5,intron_variant,,ENST00000553990,;SYT16,3_prime_UTR_variant,,ENST00000555409,;	uc001xfu.1	c.1237G>A	1434/3134	2	2			c.1237G>A						14	SNP	c.(1237-1239)GTC>ATC	17	17			central_nervous_system(1)	1	Broad	synaptotagmin XIV-like			62547795		0.582	ENSG00000139973	15236	g.chr14:62547795G>A										59.894102	KEEP	13	10	-1	18	14	13	10	-1	60.015091	18	14	0.444444	1	0	0	0	0	1	0	0	0	--	--		0	A			SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR	48	GBM-06-0211-TP	p.V413I	G	GCCCAACCCCGTCTTCAGGGA	NM_031914	NP_114120	62547795	Q17RD7	SYT16_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	4	1434	+	A	A			Missense_Mutation	413			C2 1.			
SYT16	83851	broad.mit.edu	GRCh37	14	62547865	62547865	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01	TCGA-06-2564-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000430451.2:c.1307G>A	p.Arg436His	p.R436H	ENST00000430451	NM_031914.2	436	cGc/cAc	0	A:0		1			A	R/H	uc001xfu.1	protein_coding	YES	CCDS45121.1			1307/1938									central_nervous_system(1)	1	c.(1306-1308)CGC>CAC			Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF113,SMART_domains:SM00239,Superfamily_domains:SSF49562	synaptotagmin XIV-like			A:0.0001	ENSP00000394700		6-Apr	3.30E-05					4.54E-05		6.19E-05	rs368814141,COSM270281,COSM1477670	6-Apr	.		ENST00000430451	Transcript						ENSG00000139973	g.chr14:62547865G>A	23142			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=SYT16_HUMAN&rb=367&re=452&var=R436H	getma.org/pdb.php?prot=SYT16_HUMAN&from=367&to=452&var=R436H	getma.org/?cm=var&var=hg19,14,62547865,G,A&fts=all	R436H	--	--	1																																		SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR	0,1,1	1		probably_damaging(1)	p.R436H	NM_031914	NP_114120		deleterious(0)	0,1,1	SYT16_HUMAN	SYT16	HGNC	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)			4	1504	+			UPI0000EE1AC0	436			C2 1.		SNV	SYT16,missense_variant,p.Arg436His,ENST00000430451,NM_031914.2;SYT16,downstream_gene_variant,,ENST00000446982,;RP11-355I22.5,non_coding_transcript_exon_variant,,ENST00000553990,;SYT16,3_prime_UTR_variant,,ENST00000555409,;	uc001xfu.1	c.1307G>A	1504/3134	2	2			c.1307G>A						14	SNP	c.(1306-1308)CGC>CAC	20	20			central_nervous_system(1)	1	Broad	synaptotagmin XIV-like			62547865		0.562	ENSG00000139973	15236	g.chr14:62547865G>A										53.329079	KEEP	12	8	-1	11	14	12	8	-1	53.349721	11	14	0.475	1	0	0	0	0	1	0	0	0	--	--		0	A			SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR	87	GBM-06-2564-TP	p.R436H	G	GTCCGCTTCCGCCTGTACGCT	NM_031914	NP_114120	62547865	Q17RD7	SYT16_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	4	1504	+	A	A			Missense_Mutation	436			C2 1.			
SYT16	0	broad.mit.edu	GRCh37	14	62550997	62550997	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000430451.2:c.1518G>A	p.Ala506=	p.A506=	ENST00000430451	NM_031914.2	506	gcG/gcA	0	A:0.0003	A:0	1	A:0.0014		A	A	uc001xfu.1	protein_coding	YES	CCDS45121.1			1518/1938									central_nervous_system(1)	1	c.(1516-1518)GCG>GCA			Gene3D:2.60.40.150,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF113	synaptotagmin XIV-like		A:0	A:0	ENSP00000394700	A:0	6-May	0.000157	0.000102	0.000173	0.00151		4.50E-05			rs200581957,COSM121991,COSM2247349	6-May	common_variant		ENST00000430451	Transcript		A:0.0002				ENSG00000139973	g.chr14:62550997G>A	23142			LOW								--	--	1																																		SYT16_uc010tse.1_Silent_p.A64A	0,1,1	1			p.A506A	NM_031914	NP_114120	A:0		0,1,1	SYT16_HUMAN	SYT16	HGNC	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)			5	1715	+			UPI0000EE1AC0	506					SNV	SYT16,synonymous_variant,p.=,ENST00000430451,NM_031914.2;SYT16,downstream_gene_variant,,ENST00000446982,;RP11-355I22.5,upstream_gene_variant,,ENST00000553990,;SYT16,3_prime_UTR_variant,,ENST00000555409,;	uc001xfu.1	c.1518G>A	1715/3134	2	2			c.1518G>A						14	SNP	c.(1516-1518)GCG>GCA	48	48			central_nervous_system(1)	1	Broad	synaptotagmin XIV-like			62550997		0.552	ENSG00000139973	15236	g.chr14:62550997G>A										118.714151	KEEP	27	24	-1	43	58	27	24	-1	122.295665	43	58	0.328467	1	0	0	0	0	0	0	1	0	--	--		0	A			SYT16_uc010tse.1_Silent_p.A64A	142	GBM-14-1034-TP	p.A506A	G	ATGGAGGGGCGCCAGAGCTGT	NM_031914	NP_114120	62550997	Q17RD7	SYT16_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	5	1715	+	A	A			Silent	506						
SYT16	0	broad.mit.edu	GRCh37	14	62541877	62541877	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01	TCGA-32-4210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000430451.2:c.761G>A	p.Arg254His	p.R254H	ENST00000430451	NM_031914.2	254	cGt/cAt	0		A:0	1	A:0		A	R/H	uc001xfu.1	protein_coding	YES	CCDS45121.1			761/1938									central_nervous_system(1)	1	c.(760-762)CGT>CAT			hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF113	synaptotagmin XIV-like		A:0.001		ENSP00000394700	A:0	6-Mar	1.65E-05			0.000343					rs201294056,COSM1370416,COSM1370415	6-Mar	.		ENST00000430451	Transcript		A:0.0002				ENSG00000139973	g.chr14:62541877G>A	23142			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=SYT16_HUMAN&rb=1&re=329&var=R254H	NA	getma.org/?cm=var&var=hg19,14,62541877,G,A&fts=all	R254H	--	--	1																																		SYT16_uc010tsd.1_Missense_Mutation_p.R254H	0,1,1	1		benign(0.001)	p.R254H	NM_031914	NP_114120	A:0	deleterious(0.04)	0,1,1	SYT16_HUMAN	SYT16	HGNC	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)			3	958	+			UPI0000EE1AC0	254					SNV	SYT16,missense_variant,p.Arg254His,ENST00000430451,NM_031914.2;SYT16,missense_variant,p.Arg254His,ENST00000446982,;RP11-355I22.5,intron_variant,,ENST00000553990,;SYT16,missense_variant,p.Arg254His,ENST00000555409,;	uc001xfu.1	c.761G>A	958/3134	1	1			c.761G>A						14	SNP	c.(760-762)CGT>CAT	52	52			central_nervous_system(1)	1	Broad	synaptotagmin XIV-like			62541877		0.428	ENSG00000139973	15236	g.chr14:62541877G>A										52.777784	KEEP	15	4	-1	5	8	15	4	-1	52.893879	5	8	0.566667	1	0	0	0	0	1	0	0	0	--	--		0	A			SYT16_uc010tsd.1_Missense_Mutation_p.R254H	245	GBM-32-4210-TP	p.R254H	G	AGCCAACGGCGTTATTCTGAG	NM_031914	NP_114120	62541877	Q17RD7	SYT16_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	3	958	+	A	A			Missense_Mutation	254						
SYT16	0	broad.mit.edu	GRCh37	14	62547880	62547880	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01	TCGA-32-4211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000430451.2:c.1322G>A	p.Arg441Gln	p.R441Q	ENST00000430451	NM_031914.2	441	cGg/cAg	0			1			A	R/Q	uc001xfu.1	protein_coding	YES	CCDS45121.1			1322/1938									central_nervous_system(1)	1	c.(1321-1323)CGG>CAG			Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF113,SMART_domains:SM00239,Superfamily_domains:SSF49562	synaptotagmin XIV-like				ENSP00000394700		6-Apr	4.12E-05							0.000309	rs759664973,COSM1228328,COSM1228327	6-Apr	.		ENST00000430451	Transcript						ENSG00000139973	g.chr14:62547880G>A	23142			MODERATE		1.24	low	getma.org/?cm=msa&ty=f&p=SYT16_HUMAN&rb=367&re=452&var=R441Q	getma.org/pdb.php?prot=SYT16_HUMAN&from=367&to=452&var=R441Q	getma.org/?cm=var&var=hg19,14,62547880,G,A&fts=all	R441Q	--	--	1																																		SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR	0,1,1	1		benign(0.408)	p.R441Q	NM_031914	NP_114120		tolerated(0.09)	0,1,1	SYT16_HUMAN	SYT16	HGNC	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)			4	1519	+			UPI0000EE1AC0	441			C2 1.		SNV	SYT16,missense_variant,p.Arg441Gln,ENST00000430451,NM_031914.2;SYT16,downstream_gene_variant,,ENST00000446982,;RP11-355I22.5,upstream_gene_variant,,ENST00000553990,;SYT16,3_prime_UTR_variant,,ENST00000555409,;	uc001xfu.1	c.1322G>A	1519/3134	2	2			c.1322G>A						14	SNP	c.(1321-1323)CGG>CAG	25	25			central_nervous_system(1)	1	Broad	synaptotagmin XIV-like			62547880		0.567	ENSG00000139973	15236	g.chr14:62547880G>A										53.236798	KEEP	10	10	-1	13	22	10	10	-1	53.801489	13	22	0.382979	1	0	0	0	0	1	0	0	0	--	--		0	A			SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR	246	GBM-32-4211-TP	p.R441Q	G	TACGCTGCCCGGAAGATGACC	NM_031914	NP_114120	62547880	Q17RD7	SYT16_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	4	1519	+	A	A			Missense_Mutation	441			C2 1.			
SYT16	83851		GRCh37	14	62567295	62567295	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000430451.2:c.1808G>A	p.Arg603His	p.R603H	ENST00000430451	NM_031914.2	603	cGt/cAt	0																																																																																																																																																																																																																																												
SYT2	127833	broad.mit.edu	GRCh37	1	202566072	202566072	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0157-01	TCGA-06-0157-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367267.1:c.1073C>T	p.Thr358Ile	p.T358I	ENST00000367267	NM_001136504.1	358	aCc/aTc	0			1			A	T/I	uc001gye.2	protein_coding	YES	CCDS1427.1			1073/1260									ovary(2)|skin(1)	3	c.(1072-1074)ACC>ATC			Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF208,SMART_domains:SM00239,Superfamily_domains:SSF49562	synaptotagmin II	Botulinum Toxin Type B(DB00042)			ENSP00000356236		9-Sep									COSM2150089	9-Sep	.		ENST00000367267	Transcript			neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	ENSG00000143858	g.chr1:202566072G>A	11510			MODERATE		1.2	low	getma.org/?cm=msa&ty=f&p=SYT2_HUMAN&rb=287&re=375&var=T358I	getma.org/pdb.php?prot=SYT2_HUMAN&from=287&to=375&var=T358I	getma.org/?cm=var&var=hg19,1,202566072,G,A&fts=all	T358I	--	--	1																																		SYT2_uc010pqb.1_Missense_Mutation_p.T358I|SYT2_uc009xaf.2_Missense_Mutation_p.T188I	1	1		probably_damaging(1)	p.T358I	NM_001136504	NP_001129976		deleterious(0.01)	1	SYT2_HUMAN	SYT2	HGNC	Q8N9I0	SYT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.169)				9	1266	-			UPI000006E8FC	358			Phospholipid binding (By similarity).|C2 2.|Cytoplasmic (Potential).		SNV	SYT2,missense_variant,p.Thr358Ile,ENST00000367267,NM_001136504.1;SYT2,missense_variant,p.Thr358Ile,ENST00000367268,NM_177402.4;PPP1R12B,downstream_gene_variant,,ENST00000608999,NM_002481.3,NM_001197131.1;	uc001gye.2	c.1073C>T	1266/7614	2	2			c.1073C>T						1	SNP	c.(1072-1074)ACC>ATC	45	45			ovary(2)|skin(1)	3	Broad	synaptotagmin II		Botulinum Toxin Type B(DB00042)	202566072		0.547	ENSG00000143858	15238	g.chr1:202566072G>A	neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity							133.798903	KEEP	26	25	-1	36	31	26	25	-1	134.096408	36	31	0.443396	1	0	0	0	0	1	0	0	0	--	--		0	A			SYT2_uc010pqb.1_Missense_Mutation_p.T358I|SYT2_uc009xaf.2_Missense_Mutation_p.T188I	28	GBM-06-0157-TP	p.T358I	G	GTCCAGCACGGTGACCACTAC	NM_001136504	NP_001129976	202566072	Q8N9I0	SYT2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(75;0.169)		9	1266	-	A	A			Missense_Mutation	358			Phospholipid binding (By similarity).|C2 2.|Cytoplasmic (Potential).			
SYT5	0	broad.mit.edu	GRCh37	19	55685985	55685985	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01	TCGA-19-5954-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354308.3:c.860G>A	p.Gly287Asp	p.G287D	ENST00000354308	NM_003180.2	287	gGc/gAc	0			1			T	G/D	uc002qjm.1	protein_coding	YES	CCDS12919.1			860/1161										0	c.(859-861)GGC>GAC			Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF37,SMART_domains:SM00239,Superfamily_domains:SSF49562	synaptotagmin V				ENSP00000346265		9-Aug									COSM193195	9-Aug	.		ENST00000354308	Transcript			energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	ENSG00000129990	g.chr19:55685985C>T	11513			MODERATE		1.52	low	getma.org/?cm=msa&ty=f&p=SYT5_HUMAN&rb=256&re=344&var=G287D	getma.org/pdb.php?prot=SYT5_HUMAN&from=256&to=344&var=G287D	getma.org/?cm=var&var=hg19,19,55685985,C,T&fts=all	G287D	--	--	1																																		SYT5_uc002qjp.2_Missense_Mutation_p.G283D|SYT5_uc002qjn.1_Missense_Mutation_p.G287D|SYT5_uc002qjo.1_Missense_Mutation_p.G286D	1	1		probably_damaging(0.967)	p.G287D	NM_003180	NP_003171		deleterious(0)	1	SYT5_HUMAN	SYT5	HGNC	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	Q4FD32_HUMAN,Q05BS5_HUMAN,K7EQ59_HUMAN,K7EJS7_HUMAN,K7EJC4_HUMAN		7	1920	-			UPI000013C56F	287			Cytoplasmic (Potential).|C2 2.		SNV	SYT5,missense_variant,p.Gly287Asp,ENST00000354308,NM_003180.2;SYT5,missense_variant,p.Gly283Asp,ENST00000590851,;SYT5,missense_variant,p.Gly287Asp,ENST00000537500,;SYT5,missense_variant,p.Gly19Asp,ENST00000587067,;SYT5,downstream_gene_variant,,ENST00000592470,;SYT5,downstream_gene_variant,,ENST00000589172,;SYT5,upstream_gene_variant,,ENST00000590859,;CTD-2587H24.5,intron_variant,,ENST00000591665,;SYT5,upstream_gene_variant,,ENST00000592935,;SYT5,non_coding_transcript_exon_variant,,ENST00000588305,;SYT5,non_coding_transcript_exon_variant,,ENST00000592956,;SYT5,downstream_gene_variant,,ENST00000585461,;	uc002qjm.1	c.860G>A	1230/3792	1	1			c.860G>A						19	SNP	c.(859-861)GGC>GAC	11	11				0	Broad	synaptotagmin V			55685985		0.517	ENSG00000129990	15241	g.chr19:55685985C>T	energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity							-28.115168	KEEP	2	3	-1	84	77	2	3	-1	7.853329	84	77	0.027397	1	0	0	0	0	1	0	0	0	--	--		0	T			SYT5_uc002qjp.2_Missense_Mutation_p.G283D|SYT5_uc002qjn.1_Missense_Mutation_p.G287D|SYT5_uc002qjo.1_Missense_Mutation_p.G286D	174	GBM-19-5954-TP	p.G287D	C	CACCTTTTTGCCGCCCTGCAG	NM_003180	NP_003171	55685985	O00445	SYT5_HUMAN	0	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	7	1920	-	T	T			Missense_Mutation	287			Cytoplasmic (Potential).|C2 2.			
SYT9	0	broad.mit.edu	GRCh37	11	7324279	7324279	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-15-0742-01	TCGA-15-0742-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318881.6:c.155T>C	p.Val52Ala	p.V52A	ENST00000318881	NM_175733.3	52	gTg/gCg	0			1			C	V/A	uc001mfe.2	protein_coding	YES	CCDS7778.1			155/1476									ovary(2)|large_intestine(1)	3	c.(154-156)GTG>GCG			Transmembrane_helices:TMhelix,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF174	synaptotagmin IX				ENSP00000324419		7-Feb									COSM3398126	7-Feb	.		ENST00000318881	Transcript				cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	ENSG00000170743	g.chr11:7324279T>C	19265			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=SYT9_HUMAN&rb=51&re=81&var=V52A	NA	getma.org/?cm=var&var=hg19,11,7324279,T,C&fts=all	V52A	--	--	1																																		SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA	1	1		benign(0.427)	p.V52A	NM_175733	NP_783860		deleterious(0)	1	SYT9_HUMAN	SYT9	HGNC	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)			2	392	+			UPI000000DB7B	52			Vesicular (Potential).		SNV	SYT9,missense_variant,p.Val52Ala,ENST00000318881,NM_175733.3;SYT9,missense_variant,p.Val20Ala,ENST00000396716,;SYT9,missense_variant,p.Val52Ala,ENST00000532592,;SYT9,missense_variant,p.Val20Ala,ENST00000524820,;	uc001mfe.2	c.155T>C	392/3955	3	3			c.155T>C						11	SNP	c.(154-156)GTG>GCG	59	59			ovary(2)|large_intestine(1)	3	Broad	synaptotagmin IX			7324279		0.537	ENSG00000170743	15245	g.chr11:7324279T>C		cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity							281.991606	KEEP	52	46	-1	79	48	52	46	-1	282.798488	79	48	0.432836	1	0	0	0	0	1	0	0	0	--	--		0	C			SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA	153	GBM-15-0742-TP	p.V52A	T	GATATCTCAGTGAGCCTGCTG	NM_175733	NP_783860	7324279	Q86SS6	SYT9_HUMAN	0		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	2	392	+	C	C			Missense_Mutation	52			Vesicular (Potential).			
SYTL2	0	broad.mit.edu	GRCh37	11	85445443	85445443	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01	TCGA-28-2514-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000528231.1:c.926G>A	p.Arg309Lys	p.R309K	ENST00000528231	NM_001162951.1	309	aGa/aAa	0			1			T	R/K	uc010rth.1	protein_coding		CCDS53688.1			926/2805									ovary(2)|large_intestine(1)	3	c.(925-927)AGA>AAA			hmmpanther:PTHR10024:SF10,hmmpanther:PTHR10024	synaptotagmin-like 2 isoform g				ENSP00000431701		18-Jun									COSM3398177	18-Jun	.		ENST00000528231	Transcript			intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	ENSG00000137501	g.chr11:85445443C>T	15585			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=SYTL2_HUMAN&rb=1&re=613&var=R309K	NA	getma.org/?cm=var&var=hg19,11,85445443,C,T&fts=all	R309K	--	--	1																																		SYTL2_uc010rtg.1_Missense_Mutation_p.R310K|SYTL2_uc010rti.1_Missense_Mutation_p.R309K|SYTL2_uc010rtj.1_Missense_Mutation_p.R261K|SYTL2_uc001pbf.3_Missense_Mutation_p.R309K|SYTL2_uc010rtf.1_Missense_Mutation_p.R167K	1			benign(0.012)	p.R309K	NM_001162951	NP_001156423		tolerated(0.36)	1	SYTL2_HUMAN	SYTL2	HGNC	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	Q9BQS1_HUMAN,E9PS39_HUMAN,E9PS29_HUMAN,E9PRW5_HUMAN,E9PK22_HUMAN		6	1202	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	UPI0001AADE5A	309					SNV	SYTL2,missense_variant,p.Arg310Lys,ENST00000316356,;SYTL2,missense_variant,p.Arg309Lys,ENST00000389960,NM_032943.3;SYTL2,missense_variant,p.Arg309Lys,ENST00000528231,NM_001162951.1,NM_001162953.1;SYTL2,missense_variant,p.Arg261Lys,ENST00000527523,;SYTL2,missense_variant,p.Arg309Lys,ENST00000524452,;SYTL2,non_coding_transcript_exon_variant,,ENST00000438197,;	uc010rth.1	c.926G>A	1204/3536	1	1			c.926G>A						11	SNP	c.(925-927)AGA>AAA	5	5			ovary(2)|large_intestine(1)	3	Broad	synaptotagmin-like 2 isoform g			85445443		0.438	ENSG00000137501	15247	g.chr11:85445443C>T	intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding							615.905396	KEEP	107	117	-1	132	147	107	117	-1	617.425173	132	147	0.437778	1	0	0	0	0	1	0	0	0	--	--		0	T			SYTL2_uc010rtg.1_Missense_Mutation_p.R310K|SYTL2_uc010rti.1_Missense_Mutation_p.R309K|SYTL2_uc010rtj.1_Missense_Mutation_p.R261K|SYTL2_uc001pbf.3_Missense_Mutation_p.R309K|SYTL2_uc010rtf.1_Missense_Mutation_p.R167K	214	GBM-28-2514-TP	p.R309K	C	CTCAGAAATTCTCTCATGGAT	NM_001162951	NP_001156423	85445443	Q9HCH5	SYTL2_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	6	1202	-	T	T		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	Missense_Mutation	309						
SYTL3	94120	broad.mit.edu	GRCh37	6	159178400	159178400	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs147104644		TCGA-06-0185-01	TCGA-06-0185-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297239.9:c.1295C>T	p.Pro432Leu	p.P432L	ENST00000297239		432	cCg/cTg	0	T:0.0002	T:0	1	T:0.0014		T	P/L	uc003qrp.2	protein_coding	YES	CCDS56458.1			1295/1833										0	c.(1294-1296)CCG>CTG			hmmpanther:PTHR10024:SF177,hmmpanther:PTHR10024,Gene3D:2.60.40.150,Superfamily_domains:SSF49562	synaptotagmin-like 3		T:0	T:0	ENSP00000297239	T:0	13/17	4.94E-05	9.62E-05	8.65E-05			3.01E-05		0.000122	rs147104644,COSM2150521,COSM3410742	13/17	.		ENST00000297239	Transcript		T:0.0002	intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	ENSG00000164674	g.chr6:159178400C>T	15587			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=SYTL3_HUMAN&rb=413&re=481&var=P432L	NA	getma.org/?cm=var&var=hg19,6,159178400,C,T&fts=all	P432L	--	--	1																																		SYTL3_uc011efp.1_Missense_Mutation_p.P432L|SYTL3_uc003qro.2_Missense_Mutation_p.P364L|SYTL3_uc003qrq.2_Missense_Mutation_p.P364L|SYTL3_uc003qrr.2_Missense_Mutation_p.P432L|SYTL3_uc003qrs.2_Missense_Mutation_p.P364L|SYTL3_uc011efq.1_Missense_Mutation_p.P158L	0,1,1	1		benign(0.008)	p.P432L	NM_001009991	NP_001009991	T:0	tolerated(0.18)	0,1,1	SYTL3_HUMAN	SYTL3	HGNC	Q4VX76	SYTL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)			13	1539	+		Breast(66;0.000776)|Ovarian(120;0.0303)	UPI000015FE68	432					SNV	SYTL3,missense_variant,p.Pro432Leu,ENST00000297239,;SYTL3,missense_variant,p.Pro364Leu,ENST00000360448,NM_001242394.1,NM_001242384.1,NM_001009991.3,NM_001242395.1;SYTL3,missense_variant,p.Pro158Leu,ENST00000367081,;	uc003qrp.2	c.1295C>T	1489/2292	2	2			c.1295C>T						6	SNP	c.(1294-1296)CCG>CTG	29	29				0	Broad	synaptotagmin-like 3			159178400		0.527	ENSG00000164674	15248	g.chr6:159178400C>T	intracellular protein transport	endomembrane system|membrane	Rab GTPase binding							123.853949	KEEP	28	22	-1	38	45	28	22	-1	124.711433	38	45	0.401961	1	0	0	0	0	1	0	0	0	--	--		0	T			SYTL3_uc011efp.1_Missense_Mutation_p.P432L|SYTL3_uc003qro.2_Missense_Mutation_p.P364L|SYTL3_uc003qrq.2_Missense_Mutation_p.P364L|SYTL3_uc003qrr.2_Missense_Mutation_p.P432L|SYTL3_uc003qrs.2_Missense_Mutation_p.P364L|SYTL3_uc011efq.1_Missense_Mutation_p.P158L	40	GBM-06-0185-TP	p.P432L	C	CGCTGGCATCCGCTCCGGGCC	NM_001009991	NP_001009991	159178400	Q4VX76	SYTL3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)	13	1539	+	T	T		Breast(66;0.000776)|Ovarian(120;0.0303)	Missense_Mutation	432						
SYTL4	0	broad.mit.edu	GRCh37	X	99956599	99956599	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs151147513		TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263033.5:c.181C>T	p.Arg61Trp	p.R61W	ENST00000263033	NM_001129896.2	61	Cgg/Tgg	0	A:0	A:0	1	A:0		A	R/W	uc004egd.3	protein_coding		CCDS14472.1			181/2016									ovary(2)	2	c.(181-183)CGG>TGG			PROSITE_profiles:PS50916,hmmpanther:PTHR10024:SF9,hmmpanther:PTHR10024,Pfam_domain:PF02318,Gene3D:3.30.40.10,Superfamily_domains:SSF57903	synaptotagmin-like 4	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	A:0	A:0.0007	ENSP00000263033	A:0	17-Mar	0.000659				0.000663	0.000271	0.00474	0.00326	rs151147513,COSM3406698,COSM3406699	17-Mar	common_variant		ENST00000263033	Transcript		A:0.0013	exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	ENSG00000102362	g.chrX:99956599G>A	15588			MODERATE		2.85	medium	getma.org/?cm=msa&ty=f&p=SYTL4_HUMAN&rb=1&re=157&var=R61W	getma.org/pdb.php?prot=SYTL4_HUMAN&from=1&to=157&var=R61W	getma.org/?cm=var&var=hg19,X,99956599,G,A&fts=all	R61W	--	--	1																																		SYTL4_uc010nnc.2_Missense_Mutation_p.R61W|SYTL4_uc004ege.3_Missense_Mutation_p.R61W|SYTL4_uc004egf.3_Missense_Mutation_p.R61W|SYTL4_uc004egg.3_Missense_Mutation_p.R61W	0,1,1			benign(0.025)	p.R61W	NM_080737	NP_542775	A:0.0051	deleterious(0.01)	0,1,1	SYTL4_HUMAN	SYTL4	HGNC	Q96C24	SYTL4_HUMAN			B3KUZ4_HUMAN		5	537	-			UPI00001AE9F2	61			RabBD.		SNV	SYTL4,missense_variant,p.Arg61Trp,ENST00000372981,;SYTL4,missense_variant,p.Arg61Trp,ENST00000455616,;SYTL4,missense_variant,p.Arg61Trp,ENST00000372989,NM_080737.2;SYTL4,missense_variant,p.Arg61Trp,ENST00000454200,;SYTL4,missense_variant,p.Arg61Trp,ENST00000276141,NM_001174068.1;SYTL4,missense_variant,p.Arg61Trp,ENST00000263033,NM_001129896.2;	uc004egd.3	c.181C>T	369/2335	2	2			c.181C>T						23	SNP	c.(181-183)CGG>TGG	37	37			ovary(2)	2	Broad	synaptotagmin-like 4		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	99956599		0.537	ENSG00000102362	15249	g.chrX:99956599G>A	exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding							65.831587	KEEP	19	17	-1	73	79	19	17	-1	80.043512	73	79	0.192547	1	0	0	0	0	1	0	0	0	--	--		0	A			SYTL4_uc010nnc.2_Missense_Mutation_p.R61W|SYTL4_uc004ege.3_Missense_Mutation_p.R61W|SYTL4_uc004egf.3_Missense_Mutation_p.R61W|SYTL4_uc004egg.3_Missense_Mutation_p.R61W	142	GBM-14-1034-TP	p.R61W	G	GCACAGGTCCGATCACTGTAG	NM_080737	NP_542775	99956599	Q96C24	SYTL4_HUMAN	0			5	537	-	A	A			Missense_Mutation	61			RabBD.			
SYTL5	94122	broad.mit.edu	GRCh37	X	37931389	37931389	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs151098113	byFrequency	TCGA-06-0237-01	TCGA-06-0237-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000456733.2:c.419G>A	p.Arg140Gln	p.R140Q	ENST00000456733	NM_001163334.1	140	cGa/cAa	0	A:0.0013	A:0.0015	1	A:0		A	R/Q	uc004ddu.2	protein_coding		CCDS14244.1			419/2193									skin(1)	1	c.(418-420)CGA>CAA			hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF13	synaptotagmin-like 5 isoform 1		A:0	A:0.0003	ENSP00000297875	A:0	17-Apr	0.00014	0.00141				6.29E-05			rs151098113,COSM2151060	17-Apr	common_variant		ENST00000297875	Transcript		A:0.0005	intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	ENSG00000147041	g.chrX:37931389G>A	15589			MODERATE		2.28	medium	getma.org/?cm=msa&ty=f&p=SYTL5_HUMAN&rb=47&re=150&var=R140Q	NA	getma.org/?cm=var&var=hg19,X,37931389,G,A&fts=all	R140Q	--	--	1																																		SYTL5_uc004ddv.2_Missense_Mutation_p.R140Q|SYTL5_uc004ddx.2_Missense_Mutation_p.R140Q	0,1			probably_damaging(0.963)	p.R140Q	NM_001163335	NP_001156807	A:0	deleterious(0)	0,1	SYTL5_HUMAN	SYTL5	HGNC	Q8TDW5	SYTL5_HUMAN					5	953	+			UPI000006DDEA	140					SNV	SYTL5,missense_variant,p.Arg140Gln,ENST00000357972,;SYTL5,missense_variant,p.Arg140Gln,ENST00000297875,NM_001163335.1,NM_138780.2;SYTL5,missense_variant,p.Arg140Gln,ENST00000456733,NM_001163334.1;TM4SF2,intron_variant,,ENST00000465127,;	uc004ddu.2	c.419G>A	862/4722	1	1			c.419G>A						23	SNP	c.(418-420)CGA>CAA	57	57			skin(1)	1	Broad	synaptotagmin-like 5 isoform 1			37931389		0.378	ENSG00000147041	15250	g.chrX:37931389G>A	intracellular protein transport	membrane	metal ion binding|Rab GTPase binding							237.383759	KEEP	52	33	-1	44	27	52	33	-1	237.659576	44	27	0.548872	1	0	0	0	0	1	0	0	0	--	--		0	A			SYTL5_uc004ddv.2_Missense_Mutation_p.R140Q|SYTL5_uc004ddx.2_Missense_Mutation_p.R140Q	54	GBM-06-0237-TP	p.R140Q	G	GATGTTGTCCGACAGTCCATT	NM_001163335	NP_001156807	37931389	Q8TDW5	SYTL5_HUMAN	0			5	953	+	A	A			Missense_Mutation	140						
SYTL5	0	broad.mit.edu	GRCh37	X	37955451	37955451	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297875.2:c.1026C>T	p.Ser342=	p.S342=	ENST00000297875	NM_001163335.1	342	agC/agT	0			1			T	S	uc004ddu.2	protein_coding		CCDS14244.1			1026/2193									skin(1)	1	c.(1024-1026)AGC>AGT			hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF13	synaptotagmin-like 5 isoform 1				ENSP00000297875		17-Sep									COSM3406349	17-Sep	.		ENST00000297875	Transcript			intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	ENSG00000147041	g.chrX:37955451C>T	15589			LOW								--	--	1																																		SYTL5_uc004ddv.2_Silent_p.S342S|SYTL5_uc004ddx.2_Silent_p.S342S	1				p.S342S	NM_001163335	NP_001156807			1	SYTL5_HUMAN	SYTL5	HGNC	Q8TDW5	SYTL5_HUMAN					10	1560	+			UPI000006DDEA	342					SNV	SYTL5,synonymous_variant,p.=,ENST00000357972,;SYTL5,synonymous_variant,p.=,ENST00000297875,NM_001163335.1,NM_138780.2;SYTL5,synonymous_variant,p.=,ENST00000456733,NM_001163334.1;TM4SF2,intron_variant,,ENST00000465127,;	uc004ddu.2	c.1026C>T	1469/4722	2	2			c.1026C>T						23	SNP	c.(1024-1026)AGC>AGT	45	45			skin(1)	1	Broad	synaptotagmin-like 5 isoform 1			37955451		0.413	ENSG00000147041	15250	g.chrX:37955451C>T	intracellular protein transport	membrane	metal ion binding|Rab GTPase binding							111.1834	KEEP	30	26	-1	35	46	30	26	-1	112.363243	35	46	0.388889	1	0	0	0	0	0	0	1	0	--	--		0	T			SYTL5_uc004ddv.2_Silent_p.S342S|SYTL5_uc004ddx.2_Silent_p.S342S	229	GBM-32-1977-TP	p.S342S	C	ATACTGTAAGCATAAGAAGCA	NM_001163335	NP_001156807	37955451	Q8TDW5	SYTL5_HUMAN	0			10	1560	+	T	T			Silent	342						
SZT2	23334	broad.mit.edu	GRCh37	1	43906999	43906999	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs150927632		TCGA-06-0209-01	TCGA-06-0209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000562955.1:c.7288C>T	p.Pro2430Ser	p.P2430S	ENST00000562955	NM_015284.3	2430	Cct/Tct	0			1			T	P/S	uc001cjk.1	protein_coding	YES	CCDS30694.2			7288/10128										0	c.(4762-4764)CCT>TCT			hmmpanther:PTHR14918	hypothetical protein LOC23334				ENSP00000457168		52/71									COSM3400803,COSM3400804,COSM3400805	52/71	.		ENST00000562955	Transcript	1			peroxisome		ENSG00000198198	g.chr1:43906999C>T	29040			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=SZT2_HUMAN&rb=1785&re=3430&var=P2487S	NA	getma.org/?cm=var&var=hg19,1,43906999,C,T&fts=all	P2487S	--	--	1																																			1,1,1	1		possibly_damaging(0.731)	p.P1588S	NM_015284	NP_056099		tolerated(0.43)	1,1,1	SZT2_HUMAN	SZT2	HGNC	Q5T011	SZT2_HUMAN					38	5224	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	UPI0001E24F46	2487					SNV	SZT2,missense_variant,p.Pro2430Ser,ENST00000562955,NM_015284.3;SZT2,missense_variant,p.Pro1588Ser,ENST00000372442,;SZT2,downstream_gene_variant,,ENST00000471177,;SZT2,upstream_gene_variant,,ENST00000460536,;SZT2,downstream_gene_variant,,ENST00000470897,;	uc001cjk.1	c.4762C>T	7288/12281	2	2			c.4762C>T						1	SNP	c.(4762-4764)CCT>TCT	26	26				0	Broad	hypothetical protein LOC23334			43906999		0.582	ENSG00000198198	8039	g.chr1:43906999C>T		peroxisome								149.261247	KEEP	29	30	-1	59	72	29	30	-1	155.047457	59	72	0.308989	1	0	0	0	0	1	0	0	0	--	--		0	T				46	GBM-06-0209-TP	p.P1588S	C	TGTTCGGACTCCTGGTGGAGC	NM_015284	NP_056099	43906999	Q5T011	SZT2_HUMAN	0			38	5224	+	T	T	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	Missense_Mutation	2487						
SZT2	0	broad.mit.edu	GRCh37	1	43905598	43905598	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000562955.1:c.6918G>A	p.Gly2306=	p.G2306=	ENST00000562955	NM_015284.3	2306	ggG/ggA	0			1			A	G	uc001cjk.1	protein_coding	YES	CCDS30694.2			6918/10128										0	c.(4390-4392)GGG>GGA			hmmpanther:PTHR14918	hypothetical protein LOC23334				ENSP00000457168		50/71									COSM3400800,COSM3400801,COSM3400802	50/71	.		ENST00000562955	Transcript	1			peroxisome		ENSG00000198198	g.chr1:43905598G>A	29040			LOW								--	--	1																																			1,1,1	1			p.G1464G	NM_015284	NP_056099			1,1,1	SZT2_HUMAN	SZT2	HGNC	Q5T011	SZT2_HUMAN					36	4854	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	UPI0001E24F46	2363					SNV	SZT2,synonymous_variant,p.=,ENST00000562955,NM_015284.3;SZT2,synonymous_variant,p.=,ENST00000372442,;SZT2,downstream_gene_variant,,ENST00000471177,;SZT2,downstream_gene_variant,,ENST00000470897,;	uc001cjk.1	c.4392G>A	6918/12281	1	1			c.4392G>A						1	SNP	c.(4390-4392)GGG>GGA	54	54				0	Broad	hypothetical protein LOC23334			43905598		0.567	ENSG00000198198	8039	g.chr1:43905598G>A		peroxisome								134.396685	KEEP	28	15	-1	5	5	28	15	-1	139.207977	5	5	0.82	1	0	0	0	0	0	0	1	0	--	--		0	A				159	GBM-19-1390-TP	p.G1464G	G	GGGAAAAGGGGAACATTAGTA	NM_015284	NP_056099	43905598	Q5T011	SZT2_HUMAN	0			36	4854	+	A	A	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	Silent	2363						
SZT2	0	broad.mit.edu	GRCh37	1	43909459	43909459	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-3393-01	TCGA-41-3393-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000562955.1:c.8646C>T	p.Pro2882=	p.P2882=	ENST00000562955	NM_015284.3	2882	ccC/ccT	0			1			T	P	uc001cjk.1	protein_coding	YES	CCDS30694.2			8646/10128										0	c.(6118-6120)CCC>CCT			hmmpanther:PTHR14918,Low_complexity_(Seg):seg	hypothetical protein LOC23334				ENSP00000457168		61/71	8.24E-05		8.65E-05	0.000116		0.000105		6.06E-05	rs777808688,COSM3400806,COSM3400807,COSM3400808	61/71	.		ENST00000562955	Transcript	1			peroxisome		ENSG00000198198	g.chr1:43909459C>T	29040			LOW								--	--	1																																		KIAA0467_uc001cjl.1_5'Flank	0,1,1,1	1			p.P2040P	NM_015284	NP_056099			0,1,1,1	SZT2_HUMAN	SZT2	HGNC	Q5T011	SZT2_HUMAN					47	6582	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	UPI0001E24F46	2939					SNV	SZT2,synonymous_variant,p.=,ENST00000562955,NM_015284.3;SZT2,synonymous_variant,p.=,ENST00000372442,;SZT2-AS1,downstream_gene_variant,,ENST00000396885,;SZT2,downstream_gene_variant,,ENST00000471177,;SZT2,upstream_gene_variant,,ENST00000460536,;	uc001cjk.1	c.6120C>T	8646/12281	2	2			c.6120C>T						1	SNP	c.(6118-6120)CCC>CCT	41	41				0	Broad	hypothetical protein LOC23334			43909459		0.572	ENSG00000198198	8039	g.chr1:43909459C>T		peroxisome								185.047918	KEEP	49	34	-1	91	109	49	34	-1	195.085357	91	109	0.285714	1	0	0	0	0	0	0	1	0	--	--		0	T			KIAA0467_uc001cjl.1_5'Flank	255	GBM-41-3393-TP	p.P2040P	C	CCCCCTCACCCGCCCGCAGGT	NM_015284	NP_056099	43909459	Q5T011	SZT2_HUMAN	0			47	6582	+	T	T	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	Silent	2939						
SZT2	23334		GRCh37	1	43912755	43912755	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000562955.1:c.9031G>A	p.Gly3011Ser	p.G3011S	ENST00000562955	NM_015284.3	3011	Ggc/Agc	0																																																																																																																																																																																																																																												
T	0	broad.mit.edu	GRCh37	6	166571992	166571992	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-0241-01	TCGA-06-0241-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296946.2:c.1119C>A	p.Ala373=	p.A373=	ENST00000296946	NM_003181.3	373	gcC/gcA	0			1			T	A	uc003quu.1	protein_coding	YES	CCDS5290.1			1119/1308									ovary(1)|pancreas(1)	2	c.(1117-1119)GCC>GCA			hmmpanther:PTHR11267:SF83,hmmpanther:PTHR11267	transcription factor T				ENSP00000296946		9-Sep									COSM2151110	9-Sep	.	Chordoma_Familial_Clustering_of	ENST00000296946	Transcript	1		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	ENSG00000164458	g.chr6:166571992G>T	11515			LOW								--	--	1																																		T_uc003qut.1_Silent_p.A374A|T_uc003quv.1_Silent_p.A315A	1	1			p.A373A	NM_003181	NP_003172			1	BRAC_HUMAN	T	HGNC	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	H0YM91_HUMAN		9	1612	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	UPI0000126AB5	373					SNV	T,synonymous_variant,p.=,ENST00000296946,NM_003181.3;T,synonymous_variant,p.=,ENST00000366871,NM_001270484.1;T,synonymous_variant,p.=,ENST00000366876,;	uc003quu.1	c.1119C>A	1588/2436	2	2			c.1119C>A						6	SNP	c.(1117-1119)GCC>GCA	19	19			ovary(1)|pancreas(1)	2	Broad	transcription factor T			166571992	Chordoma_Familial_Clustering_of	0.692	ENSG00000164458	15252	g.chr6:166571992G>T	anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity							53.314514	KEEP	9	14	0.391304348	12	19	9	14	0.391304348	53.552648	12	19	0.422222	1	0	0	0	0	0	0	1	0	--	--		0	T			T_uc003qut.1_Silent_p.A374A|T_uc003quv.1_Silent_p.A315A	57	GBM-06-0241-TP	p.A373A	G	GGAAGAACTGGGCCCCCAGCC	NM_003181	NP_003172	166571992	O15178	BRAC_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	9	1612	-	T	T		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	Silent	373						
T	0	broad.mit.edu	GRCh37	6	166571970	166571970	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1823-01	TCGA-14-1823-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296946.2:c.1141G>A	p.Ala381Thr	p.A381T	ENST00000296946	NM_003181.3	381	Gcg/Acg	0			1			T	A/T	uc003quu.1	protein_coding	YES	CCDS5290.1			1141/1308									ovary(1)|pancreas(1)	2	c.(1141-1143)GCG>ACG			hmmpanther:PTHR11267:SF83,hmmpanther:PTHR11267	transcription factor T				ENSP00000296946		9-Sep	4.12E-05		0.000175					0.000183	rs775012230,COSM595040	9-Sep	.	Chordoma_Familial_Clustering_of	ENST00000296946	Transcript	1		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	ENSG00000164458	g.chr6:166571970C>T	11515			MODERATE		1.25	low	getma.org/?cm=msa&ty=f&p=BRAC_HUMAN&rb=221&re=420&var=A381T	NA	getma.org/?cm=var&var=hg19,6,166571970,C,T&fts=all	A381T	--	--	1																																		T_uc003qut.1_Missense_Mutation_p.A382T|T_uc003quv.1_Missense_Mutation_p.A323T	0,1	1		benign(0.003)	p.A381T	NM_003181	NP_003172		tolerated(0.13)	0,1	BRAC_HUMAN	T	HGNC	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	H0YM91_HUMAN		9	1634	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	UPI0000126AB5	381					SNV	T,missense_variant,p.Ala381Thr,ENST00000296946,NM_003181.3;T,missense_variant,p.Ala323Thr,ENST00000366871,NM_001270484.1;T,missense_variant,p.Ala382Thr,ENST00000366876,;	uc003quu.1	c.1141G>A	1610/2436	1	1			c.1141G>A						6	SNP	c.(1141-1143)GCG>ACG	9	9			ovary(1)|pancreas(1)	2	Broad	transcription factor T			166571970	Chordoma_Familial_Clustering_of	0.711	ENSG00000164458	15252	g.chr6:166571970C>T	anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity							43.382379	KEEP	14	10	-1	29	24	14	10	-1	46.308402	29	24	0.279412	1	0	0	0	0	1	0	0	0	--	--		0	T			T_uc003qut.1_Missense_Mutation_p.A382T|T_uc003quv.1_Missense_Mutation_p.A323T	147	GBM-14-1823-TP	p.A381T	C	GTGTAGTGCGCGGGGGAGCCC	NM_003181	NP_003172	166571970	O15178	BRAC_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	9	1634	-	T	T		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	Missense_Mutation	381						
TAAR1	0	broad.mit.edu	GRCh37	6	132966395	132966395	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-41-2575-01	TCGA-41-2575-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275216.1:c.748G>C	p.Val250Leu	p.V250L	ENST00000275216	NM_138327.1	250	Gtg/Ctg	0			1			G	V/L	uc003qdm.1	protein_coding	YES	CCDS5158.1			748/1020										0	c.(748-750)GTG>CTG			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF220,Superfamily_domains:SSF81321	trace amine associated receptor 1	Amphetamine(DB00182)			ENSP00000275216		1-Jan									COSM3410593	1-Jan	.		ENST00000275216	Transcript				plasma membrane		ENSG00000146399	g.chr6:132966395C>G	17734			MODERATE		-0.505	neutral	getma.org/?cm=msa&ty=f&p=TAAR1_HUMAN&rb=40&re=304&var=V250L	getma.org/pdb.php?prot=TAAR1_HUMAN&from=40&to=304&var=V250L	getma.org/?cm=var&var=hg19,6,132966395,C,G&fts=all	V250L	--	--	1																																			1	1		benign(0.009)	p.V250L	NM_138327	NP_612200		deleterious(0)	1	TAAR1_HUMAN	TAAR1	HGNC	Q96RJ0	TAAR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)			1	748	-	Breast(56;0.135)		UPI000000D874	250			Cytoplasmic (Potential).		SNV	TAAR1,missense_variant,p.Val250Leu,ENST00000275216,NM_138327.1;	uc003qdm.1	c.748G>C	748/1020	3	3			c.748G>C						6	SNP	c.(748-750)GTG>CTG	16	16				0	Broad	trace amine associated receptor 1		Amphetamine(DB00182)	132966395		0.393	ENSG00000146399	15253	g.chr6:132966395C>G		plasma membrane								-22.82382	KEEP	0	4	-1	68	70	0	4	-1	9.413557	68	70	0.030075	1	0	0	0	0	1	0	0	0	--	--		0	G				253	GBM-41-2575-TP	p.V250L	C	AATGTCTTCACAGCTTTCCTT	NM_138327	NP_612200	132966395	Q96RJ0	TAAR1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	1	748	-	G	G	Breast(56;0.135)		Missense_Mutation	250			Cytoplasmic (Potential).			
TAAR5	0	broad.mit.edu	GRCh37	6	132910519	132910519	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1034-01	TCGA-14-1034-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258034.2:c.307G>A	p.Gly103Arg	p.G103R	ENST00000258034	NM_003967.2	103	Ggg/Agg	0	T:0		1			T	G/R	uc003qdk.2	protein_coding	YES	CCDS5156.1			307/1014									skin(1)	1	c.(307-309)GGG>AGG			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR01830,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF217,Superfamily_domains:SSF81321	trace amine associated receptor 5			T:0.0001	ENSP00000258034		1-Jan	3.29E-05			0.000116		1.50E-05		0.000122	rs374786875,COSM3410592	1-Jan	.		ENST00000258034	Transcript			synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	ENSG00000135569	g.chr6:132910519C>T	30236			MODERATE		3.47	medium	getma.org/?cm=msa&ty=f&p=TAAR5_HUMAN&rb=51&re=305&var=G103R	getma.org/pdb.php?prot=TAAR5_HUMAN&from=51&to=305&var=G103R	getma.org/?cm=var&var=hg19,6,132910519,C,T&fts=all	G103R	--	--	1																																			0,1	1		possibly_damaging(0.504)	p.G103R	NM_003967	NP_003958		deleterious(0.04)	0,1	TAAR5_HUMAN	TAAR5	HGNC	O14804	TAAR5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)			1	359	-	Breast(56;0.112)		UPI000013CFAA	103			Extracellular (Potential).		SNV	TAAR5,missense_variant,p.Gly103Arg,ENST00000258034,NM_003967.2;	uc003qdk.2	c.307G>A	359/1147	2	2			c.307G>A						6	SNP	c.(307-309)GGG>AGG	45	45			skin(1)	1	Broad	trace amine associated receptor 5			132910519		0.582	ENSG00000135569	15255	g.chr6:132910519C>T	synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity							-17.554205	KEEP	4	5	-1	71	97	4	5	-1	16.460157	71	97	0.050314	1	0	0	0	0	1	0	0	0	--	--		0	T				142	GBM-14-1034-TP	p.G103R	C	AGGAAGTCCCCGAAGAACCAG	NM_003967	NP_003958	132910519	O14804	TAAR5_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)	1	359	-	T	T	Breast(56;0.112)		Missense_Mutation	103			Extracellular (Potential).			
TAB2	23118	broad.mit.edu	GRCh37	6	149699411	149699411	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-5858-01	TCGA-06-5858-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367456.1:c.360A>G	p.Glu120=	p.E120=	ENST00000367456		120	gaA/gaG	0			1			G	E	uc003qmj.2	protein_coding	YES	CCDS5214.1			360/2082										0	c.(358-360)GAA>GAG			hmmpanther:PTHR10351:SF27,hmmpanther:PTHR10351	mitogen-activated protein kinase kinase kinase 7				ENSP00000356426		8-Apr	8.24E-06	9.63E-05							rs765640727,COSM3410653	8-Apr	.		ENST00000367456	Transcript	1		activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	ENSG00000055208	g.chr6:149699411A>G	17075			LOW								--	--	1																																		TAB2_uc011eec.1_Silent_p.E88E|TAB2_uc010kia.1_Silent_p.E120E|TAB2_uc010kib.1_Silent_p.E120E|TAB2_uc003qmk.3_RNA	0,1	1			p.E120E	NM_015093	NP_055908			0,1	TAB2_HUMAN	TAB2	HGNC	Q9NYJ8	TAB2_HUMAN			U3KQR0_HUMAN		3	538	+			UPI0000073C75	120					SNV	TAB2,synonymous_variant,p.=,ENST00000367456,;TAB2,synonymous_variant,p.=,ENST00000538427,NM_015093.4;TAB2,synonymous_variant,p.=,ENST00000286332,;TAB2,synonymous_variant,p.=,ENST00000536230,;TAB2,synonymous_variant,p.=,ENST00000392282,;TAB2,synonymous_variant,p.=,ENST00000606202,;TAB2,synonymous_variant,p.=,ENST00000470466,;	uc003qmj.2	c.360A>G	937/4553	3	3			c.360A>G						6	SNP	c.(358-360)GAA>GAG	63	63				0	Broad	mitogen-activated protein kinase kinase kinase 7			149699411		0.458	ENSG00000055208	15260	g.chr6:149699411A>G	activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			127			127	249.144316	KEEP	41	29	-1	10	14	41	29	-1	254.016048	10	14	0.747126	1	0	0	0	0	0	0	1	0	--	--		0	G			TAB2_uc011eec.1_Silent_p.E88E|TAB2_uc010kia.1_Silent_p.E120E|TAB2_uc010kib.1_Silent_p.E120E|TAB2_uc003qmk.3_RNA	102	GBM-06-5858-TP	p.E120E	A	CCAATAGTGAACTATTTCAGC	NM_015093	NP_055908	149699411	Q9NYJ8	TAB2_HUMAN	0			3	538	+	G	G			Silent	120						
TAB3	257397	broad.mit.edu	GRCh37	X	30872355	30872355	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0241-01	TCGA-06-0241-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378933.1:c.1427G>A	p.Arg476His	p.R476H	ENST00000378933	NM_152787.3	476	cGc/cAc	0			1			T	R/H	uc004dcj.2	protein_coding	YES	CCDS14226.1			1427/2139									ovary(1)	1	c.(1426-1428)CGC>CAC			hmmpanther:PTHR10351:SF45,hmmpanther:PTHR10351	mitogen-activated protein kinase kinase kinase 7				ENSP00000368215		8-Mar	3.29E-05		0.000107		0.000442				rs761956021,COSM2151165	8-Mar	common_variant		ENST00000378933	Transcript			activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding	ENSG00000157625	g.chrX:30872355C>T	30681			MODERATE		-0.83	neutral	getma.org/?cm=msa&ty=f&p=TAB3_HUMAN&rb=451&re=650&var=R476H	NA	getma.org/?cm=var&var=hg19,X,30872355,C,T&fts=all	R476H	--	--	1																																		TAB3_uc004dck.2_Missense_Mutation_p.R476H|TAB3_uc010ngl.2_Missense_Mutation_p.R476H	0,1	1		benign(0.001)	p.R476H	NM_152787	NP_690000		tolerated(1)	0,1	TAB3_HUMAN	TAB3	HGNC	Q8N5C8	TAB3_HUMAN					6	2090	-			UPI000013DF10	476					SNV	TAB3,missense_variant,p.Arg476His,ENST00000378933,NM_152787.3;TAB3,missense_variant,p.Arg476His,ENST00000378930,;TAB3,missense_variant,p.Arg476His,ENST00000288422,;TAB3,missense_variant,p.Arg476His,ENST00000378932,;TAB3,upstream_gene_variant,,ENST00000378928,;TAB3-AS2,upstream_gene_variant,,ENST00000445240,;TAB3,missense_variant,p.Arg476His,ENST00000467136,;	uc004dcj.2	c.1427G>A	1605/6302	2	2			c.1427G>A						23	SNP	c.(1426-1428)CGC>CAC	42	42			ovary(1)	1	Broad	mitogen-activated protein kinase kinase kinase 7			30872355		0.443	ENSG00000157625	15261	g.chrX:30872355C>T	activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding	Pancreas(164;1598 1985 29022 43301 49529)			Pancreas(164;1598 1985 29022 43301 49529)			209.512816	KEEP	44	46	-1	50	62	44	46	-1	210.24463	50	62	0.430233	1	0	0	0	0	1	0	0	0	--	--		0	T			TAB3_uc004dck.2_Missense_Mutation_p.R476H|TAB3_uc010ngl.2_Missense_Mutation_p.R476H	57	GBM-06-0241-TP	p.R476H	C	TGCTGCAGAGCGCTCTTCTTG	NM_152787	NP_690000	30872355	Q8N5C8	TAB3_HUMAN	0			6	2090	-	T	T			Missense_Mutation	476						
TAC1	0	broad.mit.edu	GRCh37	7	97364145	97364145	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4927-01	TCGA-76-4927-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319273.5:c.273C>T	p.Gly91=	p.G91=	ENST00000319273	NM_003182.2	91	ggC/ggT	0			1			T	G	uc003uop.3	protein_coding	YES	CCDS5649.1			273/390										0	c.(271-273)GGC>GGT			Prints_domain:PR01829,hmmpanther:PTHR11250,hmmpanther:PTHR11250:SF0	tachykinin 1 isoform beta precursor	Bacitracin(DB00626)			ENSP00000321106		7-May									COSM3412523	7-May	.		ENST00000319273	Transcript			detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space		ENSG00000006128	g.chr7:97364145C>T	11517			LOW								--	--	1																																		TAC1_uc003uoq.3_Silent_p.G91G|TAC1_uc003uor.3_Silent_p.G76G|TAC1_uc003uos.3_Silent_p.G76G	1	1			p.G91G	NM_003182	NP_003173			1	TKN1_HUMAN	TAC1	HGNC	P20366	TKN1_HUMAN					5	519	+	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)		UPI000002C712	91					SNV	TAC1,synonymous_variant,p.=,ENST00000319273,NM_003182.2;TAC1,synonymous_variant,p.=,ENST00000346867,NM_013997.2;TAC1,synonymous_variant,p.=,ENST00000350485,NM_013996.2;TAC1,non_coding_transcript_exon_variant,,ENST00000491437,;TAC1,downstream_gene_variant,,ENST00000495916,;	uc003uop.3	c.273C>T	570/1239	2	2			c.273C>T						7	SNP	c.(271-273)GGC>GGT	48	48				0	Broad	tachykinin 1 isoform beta precursor		Bacitracin(DB00626)	97364145		0.214	ENSG00000006128	15262	g.chr7:97364145C>T	detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space								26.952821	KEEP	12	12	-1	78	81	12	12	-1	44.097272	78	81	0.135338	1	0	0	0	0	0	0	1	0	--	--		0	T			TAC1_uc003uoq.3_Silent_p.G91G|TAC1_uc003uor.3_Silent_p.G76G|TAC1_uc003uos.3_Silent_p.G76G	267	GBM-76-4927-TP	p.G91G	C	TAGGACATGGCCAGATCTCTC	NM_003182	NP_003173	97364145	P20366	TKN1_HUMAN	0			5	519	+	T	T	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)		Silent	91						
TACC1	0	broad.mit.edu	GRCh37	8	38677275	38677275	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-41-2571-01	TCGA-41-2571-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317827.4:c.513T>C	p.Ala171=	p.A171=	ENST00000317827	NM_006283.2	171	gcT/gcC	0			1			C	A	uc010lwp.2	protein_coding	YES	CCDS6109.1			513/2418									ovary(1)	1	c.(511-513)GCT>GCC			hmmpanther:PTHR13924	transforming, acidic coiled-coil containing				ENSP00000321703		13-Mar									COSM3413007,COSM3413008	13-Mar	.		ENST00000317827	Transcript	1		cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding	ENSG00000147526	g.chr8:38677275T>C	11522			LOW								--	--	1																																		TACC1_uc011lby.1_5'UTR|TACC1_uc003xma.2_Intron|TACC1_uc003xlz.2_5'UTR|TACC1_uc003xmc.3_5'UTR|TACC1_uc011lbz.1_Silent_p.A187A|TACC1_uc003xmb.3_Silent_p.A126A|TACC1_uc003xme.1_Intron|TACC1_uc003xmd.1_Intron|TACC1_uc010lwo.1_Intron|TACC1_uc003xmf.3_Intron|TACC1_uc011lca.1_Silent_p.A171A|TACC1_uc011lcb.1_5'UTR|TACC1_uc011lcc.1_5'UTR|TACC1_uc011lcd.1_RNA|TACC1_uc003xmh.3_5'UTR|TACC1_uc010lwq.2_5'UTR	1,1	1			p.A171A	NM_006283	NP_006274			1,1	TACC1_HUMAN	TACC1	HGNC	O75410	TACC1_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)		E5RJU4_HUMAN,E5RJG6_HUMAN,E5RIP3_HUMAN,E5RI10_HUMAN		3	892	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	UPI000013DACE	171			Interaction with TDRD7.		SNV	TACC1,synonymous_variant,p.=,ENST00000379931,;TACC1,synonymous_variant,p.=,ENST00000317827,NM_006283.2;TACC1,synonymous_variant,p.=,ENST00000518415,;TACC1,synonymous_variant,p.=,ENST00000443286,;TACC1,synonymous_variant,p.=,ENST00000520340,;TACC1,synonymous_variant,p.=,ENST00000522904,;TACC1,5_prime_UTR_variant,,ENST00000519416,;TACC1,5_prime_UTR_variant,,ENST00000520615,NM_001146216.2;TACC1,5_prime_UTR_variant,,ENST00000520973,;TACC1,5_prime_UTR_variant,,ENST00000521935,;TACC1,5_prime_UTR_variant,,ENST00000524193,;TACC1,5_prime_UTR_variant,,ENST00000521528,;TACC1,intron_variant,,ENST00000276520,NM_001122824.1;TACC1,intron_variant,,ENST00000330691,;TACC1,intron_variant,,ENST00000348567,;TACC1,intron_variant,,ENST00000521642,;TACC1,intron_variant,,ENST00000521050,;TACC1,upstream_gene_variant,,ENST00000518809,;TACC1,upstream_gene_variant,,ENST00000521866,;TACC1,upstream_gene_variant,,ENST00000520611,;TACC1,downstream_gene_variant,,ENST00000524354,;TACC1,intron_variant,,ENST00000522752,;TACC1,intron_variant,,ENST00000523239,;TACC1,downstream_gene_variant,,ENST00000523834,;TACC1,downstream_gene_variant,,ENST00000522544,;TACC1,upstream_gene_variant,,ENST00000517336,;TACC1,non_coding_transcript_exon_variant,,ENST00000522955,;TACC1,downstream_gene_variant,,ENST00000521154,;	uc010lwp.2	c.513T>C	892/7802	3	3			c.513T>C						8	SNP	c.(511-513)GCT>GCC	14	14			ovary(1)	1	Broad	transforming, acidic coiled-coil containing			38677275		0.532	ENSG00000147526	15265	g.chr8:38677275T>C	cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding							-44.784017	KEEP	2	2	-1	125	130	2	2	-1	8.646564	125	130	0.019417	1	0	0	0	0	0	0	1	0	--	--		0	C			TACC1_uc011lby.1_5'UTR|TACC1_uc003xma.2_Intron|TACC1_uc003xlz.2_5'UTR|TACC1_uc003xmc.3_5'UTR|TACC1_uc011lbz.1_Silent_p.A187A|TACC1_uc003xmb.3_Silent_p.A126A|TACC1_uc003xme.1_Intron|TACC1_uc003xmd.1_Intron|TACC1_uc010lwo.1_Intron|TACC1_uc003xmf.3_Intron|TACC1_uc011lca.1_Silent_p.A171A|TACC1_uc011lcb.1_5'UTR|TACC1_uc011lcc.1_5'UTR|TACC1_uc011lcd.1_RNA|TACC1_uc003xmh.3_5'UTR|TACC1_uc010lwq.2_5'UTR	250	GBM-41-2571-TP	p.A171A	T	CAAAAGCAGCTCATGGCTGTG	NM_006283	NP_006274	38677275	O75410	TACC1_HUMAN	0	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)		3	892	+	C	C		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	Silent	171			Interaction with TDRD7.			
TACC3	0	broad.mit.edu	GRCh37	4	1725208	1725208	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-0619-01	TCGA-12-0619-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313288.4:c.60C>T	p.Cys20=	p.C20=	ENST00000313288	NM_006342.2	20	tgC/tgT	0			1			T	C	uc003gdo.2	protein_coding	YES	CCDS3352.1			60/2517									ovary(1)|central_nervous_system(1)	2	c.(58-60)TGC>TGT			hmmpanther:PTHR13924	transforming, acidic coiled-coil containing				ENSP00000326550		16-Feb	2.47E-05		0.000261						rs764314226,COSM3409167	16-Feb	.		ENST00000313288	Transcript	1			centrosome		ENSG00000013810	g.chr4:1725208C>T	11524			LOW								--	--	1																																		TMEM129_uc003gdn.2_5'Flank|TMEM129_uc003gdm.2_5'Flank|TACC3_uc010ibz.2_Silent_p.C20C|TACC3_uc003gdp.2_Silent_p.C20C	0,1	1			p.C20C	NM_006342	NP_006333			0,1	TACC3_HUMAN	TACC3	HGNC	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		E7EMT0_HUMAN,C9JA91_HUMAN		2	168	+		Breast(71;0.212)|all_epithelial(65;0.241)	UPI0000136869	20					SNV	TACC3,synonymous_variant,p.=,ENST00000313288,NM_006342.2;TACC3,synonymous_variant,p.=,ENST00000493975,;TACC3,synonymous_variant,p.=,ENST00000458173,;TACC3,synonymous_variant,p.=,ENST00000485989,;TMEM129,upstream_gene_variant,,ENST00000382936,NM_001127266.1;TMEM129,upstream_gene_variant,,ENST00000303277,NM_138385.3;TMEM129,upstream_gene_variant,,ENST00000536901,;TACC3,upstream_gene_variant,,ENST00000470136,;TACC3,synonymous_variant,p.=,ENST00000467746,;TACC3,non_coding_transcript_exon_variant,,ENST00000484651,;TMEM129,upstream_gene_variant,,ENST00000480360,;	uc003gdo.2	c.60C>T	166/2781	1	1			c.60C>T						4	SNP	c.(58-60)TGC>TGT	11	11			ovary(1)|central_nervous_system(1)	2	Broad	transforming, acidic coiled-coil containing			1725208		0.433	ENSG00000013810	15267	g.chr4:1725208C>T		centrosome		Ovarian(120;482 2294 11894 35824)		480	Ovarian(120;482 2294 11894 35824)		480	-1.711345	KEEP	2	1	-1	19	31	2	1	-1	6.777302	19	31	0.068182	1	0	0	0	0	0	0	1	0	--	--		0	T			TMEM129_uc003gdn.2_5'Flank|TMEM129_uc003gdm.2_5'Flank|TACC3_uc010ibz.2_Silent_p.C20C|TACC3_uc003gdp.2_Silent_p.C20C	120	GBM-12-0619-TP	p.C20C	C	CAGAAAATTGCGACTTCCTGT	NM_006342	NP_006333	1725208	Q9Y6A5	TACC3_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		2	168	+	T	T		Breast(71;0.212)|all_epithelial(65;0.241)	Silent	20						
TACC3	10460		GRCh37	4	1729779	1729779	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000313288.4:c.650C>T	p.Pro217Leu	p.P217L	ENST00000313288	NM_006342.2	217	cCg/cTg	0																																																																																																																																																																																																																																												
TACR3	6870	broad.mit.edu	GRCh37	4	104511030	104511030	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01	TCGA-06-0188-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304883.2:c.1207G>A	p.Val403Met	p.V403M	ENST00000304883	NM_001059.2	403	Gtg/Atg	0			1			T	V/M	uc003hxe.1	protein_coding	YES	CCDS3664.1			1207/1398									ovary(3)|lung(2)|breast(1)|skin(1)	7	c.(1207-1209)GTG>ATG			hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF46	tachykinin receptor 3				ENSP00000303325		5-May	2.47E-05							0.000182	rs553885967,COSM1131312	5-May	.		ENST00000304883	Transcript	1			integral to plasma membrane	tachykinin receptor activity	ENSG00000169836	g.chr4:104511030C>T	11528			MODERATE		2.3	medium	getma.org/?cm=msa&ty=f&p=NK3R_HUMAN&rb=357&re=465&var=V403M	getma.org/pdb.php?prot=NK3R_HUMAN&from=357&to=465&var=V403M	getma.org/?cm=var&var=hg19,4,104511030,C,T&fts=all	V403M	--	--	1																																			0,1	1		possibly_damaging(0.496)	p.V403M	NM_001059	NP_001050		deleterious(0.02)	0,1	NK3R_HUMAN	TACR3	HGNC	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)			5	1350	-		Hepatocellular(203;0.217)	UPI0000050413	403			Cytoplasmic (Potential).		SNV	TACR3,missense_variant,p.Val403Met,ENST00000304883,NM_001059.2;RP11-297P16.3,intron_variant,,ENST00000502936,;RP11-297P16.3,intron_variant,,ENST00000512401,;	uc003hxe.1	c.1207G>A	1348/5190	2	2			c.1207G>A						4	SNP	c.(1207-1209)GTG>ATG	18	18			ovary(3)|lung(2)|breast(1)|skin(1)	7	Broad	tachykinin receptor 3			104511030		0.498	ENSG00000169836	15271	g.chr4:104511030C>T		integral to plasma membrane	tachykinin receptor activity							398.022259	KEEP	63	87	-1	116	129	63	87	-1	402.273587	116	129	0.383099	1	0	0	0	0	1	0	0	0	--	--		0	T				41	GBM-06-0188-TP	p.V403M	C	ATTCTGGTCACGGTGTACATA	NM_001059	NP_001050	104511030	P29371	NK3R_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	5	1350	-	T	T		Hepatocellular(203;0.217)	Missense_Mutation	403			Cytoplasmic (Potential).			
TACR3	0	broad.mit.edu	GRCh37	4	104640358	104640358	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01	TCGA-12-3650-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304883.2:c.475C>T	p.Arg159Cys	p.R159C	ENST00000304883	NM_001059.2	159	Cgc/Tgc	0			1			A	R/C	uc003hxe.1	protein_coding	YES	CCDS3664.1			475/1398									ovary(3)|lung(2)|breast(1)|skin(1)	7	c.(475-477)CGC>TGC			Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF46,Superfamily_domains:SSF81321	tachykinin receptor 3				ENSP00000303325		5-Jan									COSM3408957	5-Jan	.		ENST00000304883	Transcript	1			integral to plasma membrane	tachykinin receptor activity	ENSG00000169836	g.chr4:104640358G>A	11528			MODERATE		2.49	medium	getma.org/?cm=msa&ty=f&p=NK3R_HUMAN&rb=102&re=356&var=R159C	getma.org/pdb.php?prot=NK3R_HUMAN&from=102&to=356&var=R159C	getma.org/?cm=var&var=hg19,4,104640358,G,A&fts=all	R159C	--	--	1																																			1	1		probably_damaging(0.987)	p.R159C	NM_001059	NP_001050		deleterious(0)	1	NK3R_HUMAN	TACR3	HGNC	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)			1	618	-		Hepatocellular(203;0.217)	UPI0000050413	159			Extracellular (Potential).		SNV	TACR3,missense_variant,p.Arg159Cys,ENST00000304883,NM_001059.2;	uc003hxe.1	c.475C>T	616/5190	1	1			c.475C>T						4	SNP	c.(475-477)CGC>TGC	50	50			ovary(3)|lung(2)|breast(1)|skin(1)	7	Broad	tachykinin receptor 3			104640358		0.542	ENSG00000169836	15271	g.chr4:104640358G>A		integral to plasma membrane	tachykinin receptor activity							71.347448	KEEP	10	13	-1	11	16	10	13	-1	71.457955	11	16	0.44898	1	0	0	0	0	1	0	0	0	--	--		0	A				126	GBM-12-3650-TP	p.R159C	G	TTCTGGAAGCGGCAGTAGTTG	NM_001059	NP_001050	104640358	P29371	NK3R_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	1	618	-	A	A		Hepatocellular(203;0.217)	Missense_Mutation	159			Extracellular (Potential).			
TACR3	6870		GRCh37	4	104579420	104579420	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000304883.2:c.689G>A	p.Arg230His	p.R230H	ENST00000304883	NM_001059.2	230	cGt/cAt	0																																																																																																																																																																																																																																												
TACSTD2	0	broad.mit.edu	GRCh37	1	59042498	59042498	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01	TCGA-15-0742-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371225.2:c.331G>A	p.Glu111Lys	p.E111K	ENST00000371225	NM_002353.2	111	Gag/Aag	0			1			T	E/K	uc001cyz.3	protein_coding	YES	CCDS609.1			331/972										0	c.(331-333)GAG>AAG			PROSITE_profiles:PS51162,hmmpanther:PTHR14168,hmmpanther:PTHR14168:SF3,PROSITE_patterns:PS00484,Pfam_domain:PF00086,Gene3D:4.10.800.10,SMART_domains:SM00211,Superfamily_domains:SSF57610	tumor-associated calcium signal transducer 2				ENSP00000360269		1-Jan									COSM3400916	1-Jan	.		ENST00000371225	Transcript	1		cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity	ENSG00000184292	g.chr1:59042498C>T	11530			MODERATE		-1.04	neutral	getma.org/?cm=msa&ty=f&p=TACD2_HUMAN&rb=73&re=145&var=E111K	NA	getma.org/?cm=var&var=hg19,1,59042498,C,T&fts=all	E111K	--	--	1																																			1	1		benign(0.011)	p.E111K	NM_002353	NP_002344		tolerated(0.43)	1	TACD2_HUMAN	TACSTD2	HGNC	P09758	TACD2_HUMAN					1	669	-	all_cancers(7;6.54e-05)		UPI000006EBAF	111			Extracellular (Potential).|Thyroglobulin type-1.		SNV	TACSTD2,missense_variant,p.Glu111Lys,ENST00000371225,NM_002353.2;	uc001cyz.3	c.331G>A	669/2068	1	1			c.331G>A						1	SNP	c.(331-333)GAG>AAG	16	16				0	Broad	tumor-associated calcium signal transducer 2			59042498		0.706	ENSG00000184292	15272	g.chr1:59042498C>T	cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity							24.665075	KEEP	3	6	-1	13	9	3	6	-1	25.593813	13	9	0.310345	1	0	0	0	0	1	0	0	0	--	--		0	T				153	GBM-15-0742-TP	p.E111K	C	AAGCGGCCCTCGGGGTCGCAG	NM_002353	NP_002344	59042498	P09758	TACD2_HUMAN	0			1	669	-	T	T	all_cancers(7;6.54e-05)		Missense_Mutation	111			Extracellular (Potential).|Thyroglobulin type-1.			
TAF1	6872	broad.mit.edu	GRCh37	X	70587386	70587386	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01	TCGA-06-0213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276072.3:c.218G>A	p.Gly73Glu	p.G73E	ENST00000276072		73	gGg/gAg	0			1			A	G/E	uc004dzu.3	protein_coding		CCDS35325.1			218/5619								p.G73E(1)	ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	c.(217-219)GGG>GAG			Superfamily_domains:0043927,PIRSF_domain:PIRSF003047,Pfam_domain:PF09247,Gene3D:1tbaA00,hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,Low_complexity_(Seg):seg	TBP-associated factor 1 isoform 2				ENSP00000362895		Feb-38									COSM35802,COSM2150824,COSM3406567	Feb-38	.		ENST00000373790	Transcript	1		G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	ENSG00000147133	g.chrX:70587386G>A	11535			MODERATE		2.395	medium	getma.org/?cm=msa&ty=f&p=TAF1_HUMAN&rb=22&re=87&var=G73E	NA	getma.org/?cm=var&var=hg19,X,70587386,G,A&fts=all	G73E	--	--	1																																		BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.G73E	1,1,1			benign(0.219)	p.G73E	NM_138923	NP_620278		deleterious(0)	1,1,1	TAF1_HUMAN	TAF1	HGNC	P21675	TAF1_HUMAN					2	269	+	Renal(35;0.156)	all_lung(315;0.000321)	UPI00001367DD	73			Protein kinase 1.		SNV	TAF1,missense_variant,p.Gly73Glu,ENST00000449580,;TAF1,missense_variant,p.Gly73Glu,ENST00000423759,NM_001286074.1;TAF1,missense_variant,p.Gly73Glu,ENST00000373790,NM_004606.3,NM_138923.2;TAF1,missense_variant,p.Gly73Glu,ENST00000276072,;	uc004dzu.3	c.218G>A	269/7629	1	1			c.218G>A						23	SNP	c.(217-219)GGG>GAG	52	52		p.G73E(1)	ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Broad	TBP-associated factor 1 isoform 2			70587386		0.522	ENSG00000147133	15277	g.chrX:70587386G>A	G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			472			472	39.397533	KEEP	10	10	-1	33	26	10	10	-1	43.160809	33	26	0.241935	1	0	0	0	0	1	0	0	0	--	--		0	A			BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.G73E	49	GBM-06-0213-TP	p.G73E	G	GGGGCTTTGGGGCTGGGCAGC	NM_138923	NP_620278	70587386	P21675	TAF1_HUMAN	0			2	269	+	A	A	Renal(35;0.156)	all_lung(315;0.000321)	Missense_Mutation	73			Protein kinase 1.			
TAF1	6872	broad.mit.edu	GRCh37	X	70680612	70680612	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2559-01	TCGA-06-2559-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276072.3:c.5418C>T	p.Asp1806=	p.D1806=	ENST00000276072		1806	gaC/gaT	0			1			T	D	uc004dzu.3	protein_coding		CCDS35325.1			5355/5619									ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	c.(5353-5355)GAC>GAT			PIRSF_domain:PIRSF003047	TBP-associated factor 1 isoform 2				ENSP00000362895		37/38	3.32E-05							0.000179	rs769031881,COSM3095861,COSM3095860,COSM3406575	37/38	.		ENST00000373790	Transcript	1		G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	ENSG00000147133	g.chrX:70680612C>T	11535			LOW								--	--	1																																		BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Silent_p.D1806D|TAF1_uc004dzv.3_Silent_p.D993D|TAF1_uc010nle.1_RNA|TAF1_uc010nlf.1_Silent_p.D210D|TAF1_uc004dzx.2_RNA|TAF1_uc004dzy.2_RNA|TAF1_uc004dzw.1_RNA|TAF1_uc010nlg.1_RNA	0,1,1,1				p.D1785D	NM_138923	NP_620278			0,1,1,1	TAF1_HUMAN	TAF1	HGNC	P21675	TAF1_HUMAN					37	5406	+	Renal(35;0.156)	all_lung(315;0.000321)	UPI00001367DD	1785			Asp/Glu-rich (acidic tail).|Protein kinase 2.		SNV	TAF1,synonymous_variant,p.=,ENST00000449580,;TAF1,synonymous_variant,p.=,ENST00000423759,NM_001286074.1;TAF1,synonymous_variant,p.=,ENST00000373790,NM_004606.3,NM_138923.2;TAF1,synonymous_variant,p.=,ENST00000276072,;TAF1,non_coding_transcript_exon_variant,,ENST00000461764,;TAF1,non_coding_transcript_exon_variant,,ENST00000462588,;TAF1,non_coding_transcript_exon_variant,,ENST00000468167,;TAF1,non_coding_transcript_exon_variant,,ENST00000485087,;TAF1,non_coding_transcript_exon_variant,,ENST00000467309,;TAF1,non_coding_transcript_exon_variant,,ENST00000492404,;TAF1,non_coding_transcript_exon_variant,,ENST00000482544,;TAF1,non_coding_transcript_exon_variant,,ENST00000461157,;TAF1,synonymous_variant,p.=,ENST00000437147,;TAF1,synonymous_variant,p.=,ENST00000373775,;	uc004dzu.3	c.5355C>T	5406/7629	2	2			c.5355C>T						23	SNP	c.(5353-5355)GAC>GAT	31	31			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Broad	TBP-associated factor 1 isoform 2			70680612		0.507	ENSG00000147133	15277	g.chrX:70680612C>T	G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity		p.D1806D(JHUEM1-Tumor)|p.D1806D(SKUT1-Tumor)	472		p.D1806D(JHUEM1-Tumor)|p.D1806D(SKUT1-Tumor)	472	23.729908	KEEP	2	5	-1	1	1	2	5	-1	24.369112	1	1	0.777778	1	0	0	0	0	0	0	1	0	--	--		0	T			BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Silent_p.D1806D|TAF1_uc004dzv.3_Silent_p.D993D|TAF1_uc010nle.1_RNA|TAF1_uc010nlf.1_Silent_p.D210D|TAF1_uc004dzx.2_RNA|TAF1_uc004dzy.2_RNA|TAF1_uc004dzw.1_RNA|TAF1_uc010nlg.1_RNA	83	GBM-06-2559-TP	p.D1785D	C	ATGAGGGAGACGGTGGGGAGG	NM_138923	NP_620278	70680612	P21675	TAF1_HUMAN	0			37	5406	+	T	T	Renal(35;0.156)	all_lung(315;0.000321)	Silent	1785			Asp/Glu-rich (acidic tail).|Protein kinase 2.			
TAF1	0	broad.mit.edu	GRCh37	X	70627913	70627913	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-1982-01	TCGA-32-1982-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373790.4:c.4293C>T	p.Arg1431=	p.R1431=	ENST00000373790	NM_004606.3	1431	cgC/cgT	0			1			T	R	uc004dzu.3	protein_coding		CCDS35325.1			4293/5619									ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	c.(4291-4293)CGC>CGT			Superfamily_domains:SSF47370,PIRSF_domain:PIRSF003047,SMART_domains:SM00297,Pfam_domain:PF00439,Gene3D:1.20.920.10,PROSITE_patterns:PS00633,hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,PROSITE_profiles:PS50014	TBP-associated factor 1 isoform 2				ENSP00000362895		28/38	0.000198		0.00204					9.94E-05	rs751992377,COSM3406573,COSM3406571,COSM3406572	28/38	common_variant		ENST00000373790	Transcript	1		G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	ENSG00000147133	g.chrX:70627913C>T	11535			LOW								--	--	1																																		BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Silent_p.R1452R|TAF1_uc004dzv.3_Silent_p.R605R|TAF1_uc010nld.1_RNA|TAF1_uc010nle.1_RNA|TAF1_uc010nlf.1_5'UTR|TAF1_uc004dzx.2_RNA|TAF1_uc004dzy.2_RNA	0,1,1,1				p.R1431R	NM_138923	NP_620278			0,1,1,1	TAF1_HUMAN	TAF1	HGNC	P21675	TAF1_HUMAN					28	4344	+	Renal(35;0.156)	all_lung(315;0.000321)	UPI00001367DD	1431			Bromo 1.|Interaction with ASF1A and ASF1B.|Protein kinase 2.		SNV	TAF1,synonymous_variant,p.=,ENST00000449580,;TAF1,synonymous_variant,p.=,ENST00000423759,NM_001286074.1;TAF1,synonymous_variant,p.=,ENST00000373790,NM_004606.3,NM_138923.2;TAF1,synonymous_variant,p.=,ENST00000276072,;TAF1,synonymous_variant,p.=,ENST00000463163,;TAF1,downstream_gene_variant,,ENST00000483985,;TAF1,synonymous_variant,p.=,ENST00000437147,;TAF1,synonymous_variant,p.=,ENST00000373775,;	uc004dzu.3	c.4293C>T	4344/7629	1	1			c.4293C>T						23	SNP	c.(4291-4293)CGC>CGT	7	7			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Broad	TBP-associated factor 1 isoform 2			70627913		0.443	ENSG00000147133	15277	g.chrX:70627913C>T	G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			472			472	111.932121	KEEP	22	26	-1	71	68	22	26	-1	121.225078	71	68	0.255814	1	0	0	0	0	0	0	1	0	--	--		0	T			BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Silent_p.R1452R|TAF1_uc004dzv.3_Silent_p.R605R|TAF1_uc010nld.1_RNA|TAF1_uc010nle.1_RNA|TAF1_uc010nlf.1_5'UTR|TAF1_uc004dzx.2_RNA|TAF1_uc004dzy.2_RNA	232	GBM-32-1982-TP	p.R1431R	C	AAACACTCCGCGAAAACGTGC	NM_138923	NP_620278	70627913	P21675	TAF1_HUMAN	0			28	4344	+	T	T	Renal(35;0.156)	all_lung(315;0.000321)	Silent	1431			Bromo 1.|Interaction with ASF1A and ASF1B.|Protein kinase 2.			
TAF1	0	broad.mit.edu	GRCh37	X	70598242	70598246	+	frameshift_variant	Frame_Shift_Del	DEL	ACTAT	ACTAT	-			TCGA-32-2495-01	TCGA-32-2495-01	ACTAT	ACTAT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373790.4:c.1088_1092delACTAT	p.Asp363GlyfsTer10	p.D363Gfs*10	ENST00000373790	NM_004606.3	363	gACTAT/g	0			1			-	DY/X	uc004dzu.3	protein_coding		CCDS35325.1			1088-1092/5619									ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	c.(1087-1092)GACTATfs			PIRSF_domain:PIRSF003047,hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0	TBP-associated factor 1 isoform 2				ENSP00000362895		Jul-38										Jul-38	.		ENST00000373790	Transcript	1		G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	ENSG00000147133	g.chrX:70598242_70598246delACTAT	11535			HIGH								--	--	1																																		BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Frame_Shift_Del_p.D384fs					p.D363fs	NM_138923	NP_620278				TAF1_HUMAN	TAF1	HGNC	P21675	TAF1_HUMAN					7	1139_1143	+	Renal(35;0.156)	all_lung(315;0.000321)	UPI00001367DD	363_364			Protein kinase 1.		deletion	TAF1,frameshift_variant,p.Asp363GlyfsTer10,ENST00000449580,;TAF1,frameshift_variant,p.Asp384GlyfsTer10,ENST00000423759,NM_001286074.1;TAF1,frameshift_variant,p.Asp363GlyfsTer10,ENST00000373790,NM_004606.3,NM_138923.2;TAF1,frameshift_variant,p.Asp384GlyfsTer10,ENST00000276072,;TAF1,downstream_gene_variant,,ENST00000483365,;	uc004dzu.3	c.1088_1092delACTAT	1139-1143/7629	5	5			c.1088_1092delACTAT						23	DEL	c.(1087-1092)GACTATfs	4	4			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Broad	TBP-associated factor 1 isoform 2			70598246		0.454	ENSG00000147133	15277	g.chrX:70598242_70598246delACTAT	G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			472			472														0.03	1	1	0	1	0	0	0	0	0	--	--		0	-			BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Frame_Shift_Del_p.D384fs	237	GBM-32-2495-TP	p.D363fs	ACTAT	AGTGGGTTTGACTATGGCTTCAAAC	NM_138923	NP_620278	70598242	P21675	TAF1_HUMAN	0			7	1139_1143	+	-	-	Renal(35;0.156)	all_lung(315;0.000321)	Frame_Shift_Del	363_364			Protein kinase 1.			
TAF1	0	broad.mit.edu	GRCh37	X	70680548	70680548	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-32-4211-01	TCGA-32-4211-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373790.4:c.5291T>G	p.Met1764Arg	p.M1764R	ENST00000373790	NM_004606.3	1764	aTg/aGg	0			1			G	M/R	uc004dzu.3	protein_coding		CCDS35325.1			5291/5619									ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	c.(5290-5292)ATG>AGG			PIRSF_domain:PIRSF003047	TBP-associated factor 1 isoform 2				ENSP00000362895		37/38									COSM2157369,COSM2157368,COSM3406574	37/38	.		ENST00000373790	Transcript	1		G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	ENSG00000147133	g.chrX:70680548T>G	11535			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=TAF1_HUMAN&rb=1425&re=1872&var=M1764R	NA	getma.org/?cm=var&var=hg19,X,70680548,T,G&fts=all	M1764R	--	--	1																																		BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.M1785R|TAF1_uc004dzv.3_Missense_Mutation_p.M972R|TAF1_uc010nle.1_RNA|TAF1_uc010nlf.1_Missense_Mutation_p.M189R|TAF1_uc004dzx.2_RNA|TAF1_uc004dzy.2_RNA|TAF1_uc004dzw.1_RNA|TAF1_uc010nlg.1_RNA	1,1,1			benign(0.002)	p.M1764R	NM_138923	NP_620278		tolerated_low_confidence(0.32)	1,1,1	TAF1_HUMAN	TAF1	HGNC	P21675	TAF1_HUMAN					37	5342	+	Renal(35;0.156)	all_lung(315;0.000321)	UPI00001367DD	1764			Asp/Glu-rich (acidic tail).|Protein kinase 2.		SNV	TAF1,missense_variant,p.Met1798Arg,ENST00000449580,;TAF1,missense_variant,p.Met1787Arg,ENST00000423759,NM_001286074.1;TAF1,missense_variant,p.Met1764Arg,ENST00000373790,NM_004606.3,NM_138923.2;TAF1,missense_variant,p.Met1785Arg,ENST00000276072,;TAF1,non_coding_transcript_exon_variant,,ENST00000461764,;TAF1,non_coding_transcript_exon_variant,,ENST00000462588,;TAF1,non_coding_transcript_exon_variant,,ENST00000468167,;TAF1,non_coding_transcript_exon_variant,,ENST00000485087,;TAF1,non_coding_transcript_exon_variant,,ENST00000467309,;TAF1,non_coding_transcript_exon_variant,,ENST00000492404,;TAF1,non_coding_transcript_exon_variant,,ENST00000482544,;TAF1,non_coding_transcript_exon_variant,,ENST00000461157,;TAF1,missense_variant,p.Met453Arg,ENST00000437147,;TAF1,missense_variant,p.Met421Arg,ENST00000373775,;	uc004dzu.3	c.5291T>G	5342/7629	3	3			c.5291T>G						23	SNP	c.(5290-5292)ATG>AGG	12	12			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Broad	TBP-associated factor 1 isoform 2			70680548		0.483	ENSG00000147133	15277	g.chrX:70680548T>G	G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			472			472	50.081811	KEEP	6	7	-1	4	3	6	7	-1	50.479251	4	3	0.65	1	0	0	0	0	1	0	0	0	--	--		0	G			BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.M1785R|TAF1_uc004dzv.3_Missense_Mutation_p.M972R|TAF1_uc010nle.1_RNA|TAF1_uc010nlf.1_Missense_Mutation_p.M189R|TAF1_uc004dzx.2_RNA|TAF1_uc004dzy.2_RNA|TAF1_uc004dzw.1_RNA|TAF1_uc010nlg.1_RNA	246	GBM-32-4211-TP	p.M1764R	T	CAACCCCGCATGCTTCAGGAG	NM_138923	NP_620278	70680548	P21675	TAF1_HUMAN	0			37	5342	+	G	G	Renal(35;0.156)	all_lung(315;0.000321)	Missense_Mutation	1764			Asp/Glu-rich (acidic tail).|Protein kinase 2.			
TAF1	0	broad.mit.edu	GRCh37	X	70613222	70613222	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-41-5651-01	TCGA-41-5651-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373790.4:c.3120A>C	p.Gly1040=	p.G1040=	ENST00000373790	NM_004606.3	1040	ggA/ggC	0			1			C	G	uc004dzu.3	protein_coding		CCDS35325.1			3120/5619									ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	c.(3118-3120)GGA>GGC			PIRSF_domain:PIRSF003047,hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0	TBP-associated factor 1 isoform 2				ENSP00000362895		21/38									COSM3406570,COSM3406568,COSM3406569	21/38	.		ENST00000373790	Transcript	1		G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	ENSG00000147133	g.chrX:70613222A>C	11535			LOW								--	--	1																																		BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Silent_p.G1061G|TAF1_uc004dzv.3_Silent_p.G214G	1,1,1				p.G1040G	NM_138923	NP_620278			1,1,1	TAF1_HUMAN	TAF1	HGNC	P21675	TAF1_HUMAN					21	3171	+	Renal(35;0.156)	all_lung(315;0.000321)	UPI00001367DD	1040					SNV	TAF1,synonymous_variant,p.=,ENST00000449580,;TAF1,synonymous_variant,p.=,ENST00000423759,NM_001286074.1;TAF1,synonymous_variant,p.=,ENST00000373790,NM_004606.3,NM_138923.2;TAF1,synonymous_variant,p.=,ENST00000276072,;TAF1,upstream_gene_variant,,ENST00000483985,;TAF1,downstream_gene_variant,,ENST00000478305,;TAF1,downstream_gene_variant,,ENST00000474917,;	uc004dzu.3	c.3120A>C	3171/7629	3	3			c.3120A>C						23	SNP	c.(3118-3120)GGA>GGC	62	62			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Broad	TBP-associated factor 1 isoform 2			70613222		0.448	ENSG00000147133	15277	g.chrX:70613222A>C	G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			472			472	76.45919	KEEP	23	11	-1	54	30	23	11	-1	80.123879	54	30	0.300971	1	0	0	0	0	0	0	1	0	--	--		0	C			BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Silent_p.G1061G|TAF1_uc004dzv.3_Silent_p.G214G	258	GBM-41-5651-TP	p.G1040G	A	CTCGTTCTGGAGAGGGGCCCA	NM_138923	NP_620278	70613222	P21675	TAF1_HUMAN	0			21	3171	+	C	C	Renal(35;0.156)	all_lung(315;0.000321)	Silent	1040						
TAF15	0	broad.mit.edu	GRCh37	17	34151174	34151174	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-2631-01	TCGA-19-2631-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000588240.1:c.577G>T	p.Asp193Tyr	p.D193Y	ENST00000588240	NM_139215.2	193	Gat/Tat	0			1			T	D/Y	uc002hkd.2	protein_coding	YES	CCDS32623.1			577/1779	T		TEC|CHN1|ZNF384		extraskeletal myxoid chondrosarcomas|ALL		TAF15/NR4A3(33)		bone(33)|lung(1)|skin(1)	35	c.(577-579)GAT>TAT			Low_complexity_(Seg):seg,hmmpanther:PTHR23238,hmmpanther:PTHR23238:SF25	TBP-associated factor 15 isoform 1				ENSP00000466950		16-Jul									COSM2156374	16-Jul	.		ENST00000588240	Transcript			positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	ENSG00000172660	g.chr17:34151174G>T	11547			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=RBP56_HUMAN&rb=1&re=209&var=D193Y	NA	getma.org/?cm=var&var=hg19,17,34151174,G,T&fts=all	D193Y	--	--	1																																		TAF15_uc010ctw.1_RNA|TAF15_uc002hkc.2_Missense_Mutation_p.D190Y	1	1		probably_damaging(0.936)	p.D193Y	NM_139215	NP_631961		deleterious_low_confidence(0)	1	RBP56_HUMAN	TAF15	HGNC	Q92804	RBP56_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	Q86X94_HUMAN,K7EJB3_HUMAN		7	663	+		Ovarian(249;0.17)	UPI000013317D	193			Gln/Gly/Ser/Tyr-rich.		SNV	TAF15,missense_variant,p.Asp193Tyr,ENST00000588240,NM_139215.2,NM_003487.3;TAF15,missense_variant,p.Asp190Tyr,ENST00000311979,;TAF15,missense_variant,p.Asp102Tyr,ENST00000592237,;TAF15,missense_variant,p.Asp190Tyr,ENST00000590273,;TAF15,downstream_gene_variant,,ENST00000588441,;TAF15,downstream_gene_variant,,ENST00000587272,;AC015849.19,intron_variant,,ENST00000588415,;AC015849.13,downstream_gene_variant,,ENST00000589356,;TAF15,missense_variant,p.Asp102Tyr,ENST00000590051,;TAF15,non_coding_transcript_exon_variant,,ENST00000591527,;TAF15,downstream_gene_variant,,ENST00000591957,;	uc002hkd.2	c.577G>T	692/2191	2	2			c.577G>T	T		TEC|CHN1|ZNF384		extraskeletal myxoid chondrosarcomas|ALL	17	SNP	c.(577-579)GAT>TAT	35	35	TAF15/NR4A3(33)		bone(33)|lung(1)|skin(1)	35	Broad	TBP-associated factor 15 isoform 1			34151174		0.428	ENSG00000172660	15281	g.chr17:34151174G>T	positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding			696			696	116.555767	KEEP	30	21	0.588235294	65	50	30	21	0.588235294	122.208539	65	50	0.299363	1	0	0	0	0	1	0	0	0	--	--		0	T			TAF15_uc010ctw.1_RNA|TAF15_uc002hkc.2_Missense_Mutation_p.D190Y	167	GBM-19-2631-TP	p.D193Y	G	ATATGACAAGGATGGAAGAGG	NM_139215	NP_631961	34151174	Q92804	RBP56_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	7	663	+	T	T		Ovarian(249;0.17)	Missense_Mutation	193			Gln/Gly/Ser/Tyr-rich.			
TAF1A	0	broad.mit.edu	GRCh37	1	222761835	222761835	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-1980-01	TCGA-32-1980-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000350027.4:c.71G>C	p.Ser24Thr	p.S24T	ENST00000350027	NM_001201536.1	24	aGt/aCt	0			1			G	S/T	uc009xdz.1	protein_coding	YES	CCDS1531.1			71/1353										0	c.(70-72)AGT>ACT			PIRSF_domain:PIRSF015161,Pfam_domain:PF14929,hmmpanther:PTHR32122	TBP-associated factor 1A isoform 2				ENSP00000339976		12-Feb	8.24E-06					1.50E-05			rs751245389,COSM3400353,COSM3400354	12-Feb	.		ENST00000350027	Transcript			regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding	ENSG00000143498	g.chr1:222761835C>G	11532			MODERATE		1.345	low	getma.org/?cm=msa&ty=f&p=TAF1A_HUMAN&rb=19&re=446&var=S24T	NA	getma.org/?cm=var&var=hg19,1,222761835,C,G&fts=all	S24T	--	--	1																																		TAF1A_uc001hni.1_5'UTR|TAF1A_uc001hnj.2_Missense_Mutation_p.S24T|TAF1A_uc001hnk.2_5'UTR|TAF1A_uc010pur.1_Missense_Mutation_p.S24T	0,1,1	1		benign(0.052)	p.S24T	NM_139352	NP_647603		tolerated(0.25)	0,1,1	TAF1A_HUMAN	TAF1A	HGNC	Q15573	TAF1A_HUMAN		GBM - Glioblastoma multiforme(131;0.0186)			2	260	-			UPI000006F49B	24					SNV	TAF1A,missense_variant,p.Ser24Thr,ENST00000350027,NM_001201536.1;TAF1A,missense_variant,p.Ser24Thr,ENST00000352967,NM_005681.3;TAF1A,missense_variant,p.Ser24Thr,ENST00000543857,;TAF1A,missense_variant,p.Ser24Thr,ENST00000391883,;TAF1A,5_prime_UTR_variant,,ENST00000391882,;TAF1A,5_prime_UTR_variant,,ENST00000366890,NM_139352.2;RP11-378J18.3,upstream_gene_variant,,ENST00000413074,;RP11-378J18.3,upstream_gene_variant,,ENST00000427540,;RP11-378J18.3,upstream_gene_variant,,ENST00000441835,;TAF1A,non_coding_transcript_exon_variant,,ENST00000465263,;TAF1A,non_coding_transcript_exon_variant,,ENST00000487009,;	uc009xdz.1	c.71G>C	225/1911	3	3			c.71G>C						1	SNP	c.(70-72)AGT>ACT	4	4				0	Broad	TBP-associated factor 1A isoform 2			222761835		0.373	ENSG00000143498	15282	g.chr1:222761835C>G	regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding							-0.258012	KEEP	1	6	-1	47	53	1	6	-1	19.095179	47	53	0.069307	1	0	0	0	0	1	0	0	0	--	--		0	G			TAF1A_uc001hni.1_5'UTR|TAF1A_uc001hnj.2_Missense_Mutation_p.S24T|TAF1A_uc001hnk.2_5'UTR|TAF1A_uc010pur.1_Missense_Mutation_p.S24T	231	GBM-32-1980-TP	p.S24T	C	TCCTGCACCACTGAGCACAGA	NM_139352	NP_647603	222761835	Q15573	TAF1A_HUMAN	0		GBM - Glioblastoma multiforme(131;0.0186)	2	260	-	G	G			Missense_Mutation	24						
TAF1B	9014	broad.mit.edu	GRCh37	2	9994457	9994457	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T			TCGA-06-0749-01	TCGA-06-0749-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263663.5:c.306C>T		p.X102_splice	ENST00000263663	NM_005680.2	102	aaC/aaT	0	T:0		1			T	N	uc002qzz.2	protein_coding	YES	CCDS33143.1			306/1767									ovary(1)|breast(1)|pancreas(1)	3	c.(304-306)AAC>AAT			hmmpanther:PTHR31576,hmmpanther:PTHR31576:SF2	TBP-associated factor 1B			T:0.0001	ENSP00000263663		15-May	2.47E-05		8.67E-05			1.50E-05		6.06E-05	rs376441869,COSM2151885	15-May	.		ENST00000263663	Transcript			termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000115750	g.chr2:9994457C>T	11533			LOW								--	--	1																																		TAF1B_uc010exc.2_Silent_p.N102N|TAF1B_uc002qzy.3_Silent_p.N102N|TAF1B_uc010yja.1_Translation_Start_Site|TAF1B_uc010exd.2_Translation_Start_Site	0,1	1			p.N102N	NM_005680	NP_005671			0,1	TAF1B_HUMAN	TAF1B	HGNC	Q53T94	TAF1B_HUMAN					5	406	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		UPI0000208E44	102					SNV	TAF1B,splice_region_variant,p.=,ENST00000263663,NM_005680.2;TAF1B,splice_region_variant,,ENST00000396242,;TAF1B,splice_region_variant,,ENST00000402170,;TAF1B,splice_region_variant,,ENST00000469895,;TAF1B,splice_region_variant,,ENST00000480197,;TAF1B,downstream_gene_variant,,ENST00000490432,;TAF1B,downstream_gene_variant,,ENST00000404869,;TAF1B,splice_region_variant,p.=,ENST00000434858,;TAF1B,downstream_gene_variant,,ENST00000416181,;	uc002qzz.2	c.306C>T	494/2387	2	2			c.306C>T						2	SNP	c.(304-306)AAC>AAT	41	41			ovary(1)|breast(1)|pancreas(1)	3	Broad	TBP-associated factor 1B			9994457		0.408	ENSG00000115750	15283	g.chr2:9994457C>T	termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity							51.728349	KEEP	12	13	-1	44	38	12	13	-1	58.529044	44	38	0.221053	1	0	0	0	0	0	0	1	0	--	--		0	T			TAF1B_uc010exc.2_Silent_p.N102N|TAF1B_uc002qzy.3_Silent_p.N102N|TAF1B_uc010yja.1_Translation_Start_Site|TAF1B_uc010exd.2_Translation_Start_Site	69	GBM-06-0749-TP	p.N102N	C	CACCTTAGAACGATGTTTTAC	NM_005680	NP_005671	9994457	Q53T94	TAF1B_HUMAN	0			5	406	+	T	T	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		Silent	102						
TAF1L	138474	broad.mit.edu	GRCh37	9	32630560	32630560	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0744-01	TCGA-06-0744-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000242310.4:c.5018C>G	p.Thr1673Arg	p.T1673R	ENST00000242310	NM_153809.2	1673	aCa/aGa	0			1			C	T/R	uc003zrg.1	protein_coding	YES	CCDS35003.1			5018/5481									lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26	c.(5017-5019)ACA>AGA			hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,PIRSF_domain:PIRSF003047	TBP-associated factor RNA polymerase 1-like				ENSP00000418379		1-Jan									COSM3413590	1-Jan	.		ENST00000242310	Transcript			male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	ENSG00000122728	g.chr9:32630560G>C	18056			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=TAF1L_HUMAN&rb=1615&re=1814&var=T1673R	NA	getma.org/?cm=var&var=hg19,9,32630560,G,C&fts=all	T1673R	--	--	1																																		uc003zrh.1_5'Flank	1	1		benign(0.183)	p.T1673R	NM_153809	NP_722516		tolerated_low_confidence(0.05)	1	TAF1L_HUMAN	TAF1L	HGNC	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)			1	5108	-			UPI000007408A	1673					SNV	TAF1L,missense_variant,p.Thr1673Arg,ENST00000242310,NM_153809.2;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;AL589642.1,non_coding_transcript_exon_variant,,ENST00000541085,;	uc003zrg.1	c.5018C>G	5108/6216	3	3			c.5018C>G						9	SNP	c.(5017-5019)ACA>AGA	55	55			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26	Broad	TBP-associated factor RNA polymerase 1-like			32630560		0.473	ENSG00000122728	15286	g.chr9:32630560G>C	male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			234			234	-26.039086	KEEP	4	3	-1	115	75	4	3	-1	15.860344	115	75	0.038462	1	0	0	0	0	1	0	0	0	--	--		0	C			uc003zrh.1_5'Flank	66	GBM-06-0744-TP	p.T1673R	G	ACTGAGGGATGTGTTGGTATC	NM_153809	NP_722516	32630560	Q8IZX4	TAF1L_HUMAN	0	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	5108	-	C	C			Missense_Mutation	1673						
TAF1L	138474	broad.mit.edu	GRCh37	9	32631824	32631824	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0749-01	TCGA-06-0749-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000242310.4:c.3754C>T	p.Arg1252Trp	p.R1252W	ENST00000242310	NM_153809.2	1252	Cgg/Tgg	0			1			A	R/W	uc003zrg.1	protein_coding	YES	CCDS35003.1			3754/5481									lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26	c.(3754-3756)CGG>TGG			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,PIRSF_domain:PIRSF003047	TBP-associated factor RNA polymerase 1-like				ENSP00000418379		1-Jan									COSM164777	1-Jan	.		ENST00000242310	Transcript			male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	ENSG00000122728	g.chr9:32631824G>A	18056			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=TAF1L_HUMAN&rb=1235&re=1272&var=R1252W	NA	getma.org/?cm=var&var=hg19,9,32631824,G,A&fts=all	R1252W	--	--	1																																		uc003zrh.1_5'Flank	1	1		probably_damaging(1)	p.R1252W	NM_153809	NP_722516		deleterious(0)	1	TAF1L_HUMAN	TAF1L	HGNC	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)			1	3844	-			UPI000007408A	1252					SNV	TAF1L,missense_variant,p.Arg1252Trp,ENST00000242310,NM_153809.2;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;AL589642.1,non_coding_transcript_exon_variant,,ENST00000541085,;	uc003zrg.1	c.3754C>T	3844/6216	1	1			c.3754C>T						9	SNP	c.(3754-3756)CGG>TGG	54	54			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26	Broad	TBP-associated factor RNA polymerase 1-like			32631824		0.448	ENSG00000122728	15286	g.chr9:32631824G>A	male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding		p.R1252W(SNU407-Tumor)	234		p.R1252W(SNU407-Tumor)	234	267.998694	KEEP	48	45	-1	32	33	48	45	-1	268.863723	32	33	0.582192	1	0	0	0	0	1	0	0	0	--	--		0	A			uc003zrh.1_5'Flank	69	GBM-06-0749-TP	p.R1252W	G	CGCTTAAGCCGCCTCAGTTGC	NM_153809	NP_722516	32631824	Q8IZX4	TAF1L_HUMAN	0	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	3844	-	A	A			Missense_Mutation	1252						
TAF1L	138474	broad.mit.edu	GRCh37	9	32630579	32630579	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01	TCGA-06-2559-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000242310.4:c.4999G>A	p.Asp1667Asn	p.D1667N	ENST00000242310	NM_153809.2	1667	Gat/Aat	0			1			T	D/N	uc003zrg.1	protein_coding	YES	CCDS35003.1			4999/5481									lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26	c.(4999-5001)GAT>AAT			hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,PIRSF_domain:PIRSF003047	TBP-associated factor RNA polymerase 1-like				ENSP00000418379		1-Jan									COSM3413591	1-Jan	.		ENST00000242310	Transcript			male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	ENSG00000122728	g.chr9:32630579C>T	18056			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=TAF1L_HUMAN&rb=1615&re=1814&var=D1667N	NA	getma.org/?cm=var&var=hg19,9,32630579,C,T&fts=all	D1667N	--	--	1																																		uc003zrh.1_5'Flank	1	1		benign(0.14)	p.D1667N	NM_153809	NP_722516		deleterious_low_confidence(0.03)	1	TAF1L_HUMAN	TAF1L	HGNC	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)			1	5089	-			UPI000007408A	1667					SNV	TAF1L,missense_variant,p.Asp1667Asn,ENST00000242310,NM_153809.2;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;AL589642.1,non_coding_transcript_exon_variant,,ENST00000541085,;	uc003zrg.1	c.4999G>A	5089/6216	2	2			c.4999G>A						9	SNP	c.(4999-5001)GAT>AAT	37	37			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26	Broad	TBP-associated factor RNA polymerase 1-like			32630579		0.463	ENSG00000122728	15286	g.chr9:32630579C>T	male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			234			234	434.876739	KEEP	99	71	-1	142	110	99	71	-1	438.670788	142	110	0.39314	1	0	0	0	0	1	0	0	0	--	--		0	T			uc003zrh.1_5'Flank	83	GBM-06-2559-TP	p.D1667N	C	TCATACATATCAGGAGGCTGA	NM_153809	NP_722516	32630579	Q8IZX4	TAF1L_HUMAN	0	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	5089	-	T	T			Missense_Mutation	1667						
TAF1L	0	broad.mit.edu	GRCh37	9	32630679	32630679	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-12-3650-01	TCGA-12-3650-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000242310.4:c.4899T>A	p.Leu1633=	p.L1633=	ENST00000242310	NM_153809.2	1633	ctT/ctA	0			1			T	L	uc003zrg.1	protein_coding	YES	CCDS35003.1			4899/5481									lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26	c.(4897-4899)CTT>CTA			hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,Gene3D:1.20.920.10,PIRSF_domain:PIRSF003047,Superfamily_domains:SSF47370	TBP-associated factor RNA polymerase 1-like				ENSP00000418379		1-Jan									COSM3413592	1-Jan	.		ENST00000242310	Transcript			male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	ENSG00000122728	g.chr9:32630679A>T	18056			LOW								--	--	1																																		uc003zrh.1_5'Flank	1	1			p.L1633L	NM_153809	NP_722516			1	TAF1L_HUMAN	TAF1L	HGNC	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)			1	4989	-			UPI000007408A	1633					SNV	TAF1L,synonymous_variant,p.=,ENST00000242310,NM_153809.2;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;AL589642.1,non_coding_transcript_exon_variant,,ENST00000541085,;	uc003zrg.1	c.4899T>A	4989/6216	2	2			c.4899T>A						9	SNP	c.(4897-4899)CTT>CTA	45	45			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26	Broad	TBP-associated factor RNA polymerase 1-like			32630679		0.448	ENSG00000122728	15286	g.chr9:32630679A>T	male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			234			234	344.060189	KEEP	58	61	-1	92	84	58	61	-1	346.382081	92	84	0.403509	1	0	0	0	0	0	0	1	0	--	--		0	T			uc003zrh.1_5'Flank	126	GBM-12-3650-TP	p.L1633L	A	TATCCTTCTCAAGTTGAGTCA	NM_153809	NP_722516	32630679	Q8IZX4	TAF1L_HUMAN	0	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	4989	-	T	T			Silent	1633						
TAF1L	0	broad.mit.edu	GRCh37	9	32633610	32633610	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-19-2620-01	TCGA-19-2620-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000242310.4:c.1968A>T	p.Gln656His	p.Q656H	ENST00000242310	NM_153809.2	656	caA/caT	0			1			A	Q/H	uc003zrg.1	protein_coding	YES	CCDS35003.1			1968/5481									lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26	c.(1966-1968)CAA>CAT			hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,Pfam_domain:PF12157,PIRSF_domain:PIRSF003047	TBP-associated factor RNA polymerase 1-like				ENSP00000418379		1-Jan									COSM3413595	1-Jan	.		ENST00000242310	Transcript			male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	ENSG00000122728	g.chr9:32633610T>A	18056			MODERATE		-0.46	neutral	getma.org/?cm=msa&ty=f&p=TAF1L_HUMAN&rb=584&re=1047&var=Q656H	NA	getma.org/?cm=var&var=hg19,9,32633610,T,A&fts=all	Q656H	--	--	1																																		uc003zrh.1_RNA	1	1		benign(0.007)	p.Q656H	NM_153809	NP_722516		tolerated(0.54)	1	TAF1L_HUMAN	TAF1L	HGNC	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)			1	2058	-			UPI000007408A	656					SNV	TAF1L,missense_variant,p.Gln656His,ENST00000242310,NM_153809.2;RP11-555J4.4,non_coding_transcript_exon_variant,,ENST00000430787,;AL589642.1,non_coding_transcript_exon_variant,,ENST00000541085,;	uc003zrg.1	c.1968A>T	2058/6216	1	1			c.1968A>T						9	SNP	c.(1966-1968)CAA>CAT	56	56			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26	Broad	TBP-associated factor RNA polymerase 1-like			32633610		0.502	ENSG00000122728	15286	g.chr9:32633610T>A	male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			234			234	2.864344	KEEP	3	8	-1	59	48	3	8	-1	21.427656	59	48	0.090909	1	0	0	0	0	1	0	0	0	--	--		0	A			uc003zrh.1_RNA	162	GBM-19-2620-TP	p.Q656H	T	TTAGCAAAGGTTGGACTGAAT	NM_153809	NP_722516	32633610	Q8IZX4	TAF1L_HUMAN	0	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2058	-	A	A			Missense_Mutation	656						
TAF1L	0	broad.mit.edu	GRCh37	9	32632340	32632340	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01	TCGA-19-5955-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000242310.4:c.3238C>T	p.Arg1080Cys	p.R1080C	ENST00000242310	NM_153809.2	1080	Cgt/Tgt	0			1			A	R/C	uc003zrg.1	protein_coding	YES	CCDS35003.1			3238/5481									lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26	c.(3238-3240)CGT>TGT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,PIRSF_domain:PIRSF003047	TBP-associated factor RNA polymerase 1-like				ENSP00000418379		1-Jan	1.65E-05		8.64E-05			1.50E-05			rs756949456,COSM3413594	1-Jan	.		ENST00000242310	Transcript			male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	ENSG00000122728	g.chr9:32632340G>A	18056			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=TAF1L_HUMAN&rb=1048&re=1234&var=R1080C	NA	getma.org/?cm=var&var=hg19,9,32632340,G,A&fts=all	R1080C	--	--	1																																		uc003zrh.1_5'Flank	0,1	1		possibly_damaging(0.556)	p.R1080C	NM_153809	NP_722516		deleterious(0.03)	0,1	TAF1L_HUMAN	TAF1L	HGNC	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)			1	3328	-			UPI000007408A	1080					SNV	TAF1L,missense_variant,p.Arg1080Cys,ENST00000242310,NM_153809.2;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;AL589642.1,non_coding_transcript_exon_variant,,ENST00000541085,;	uc003zrg.1	c.3238C>T	3328/6216	1	1			c.3238C>T						9	SNP	c.(3238-3240)CGT>TGT	64	64			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26	Broad	TBP-associated factor RNA polymerase 1-like			32632340		0.473	ENSG00000122728	15286	g.chr9:32632340G>A	male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			234			234	78.04898	KEEP	12	25	-1	48	72	12	25	-1	87.723806	48	72	0.231293	1	0	0	0	0	1	0	0	0	--	--		0	A			uc003zrh.1_5'Flank	175	GBM-19-5955-TP	p.R1080C	G	TCTTTGTAACGCTCTTGATGC	NM_153809	NP_722516	32632340	Q8IZX4	TAF1L_HUMAN	0	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	3328	-	A	A			Missense_Mutation	1080						
TAF1L	0	broad.mit.edu	GRCh37	9	32635178	32635178	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-26-5134-01	TCGA-26-5134-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000242310.4:c.400T>C	p.Tyr134His	p.Y134H	ENST00000242310	NM_153809.2	134	Tac/Cac	0			1			G	Y/H	uc003zrg.1	protein_coding	YES	CCDS35003.1			400/5481									lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26	c.(400-402)TAC>CAC			hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,PIRSF_domain:PIRSF003047	TBP-associated factor RNA polymerase 1-like				ENSP00000418379		1-Jan									COSM3413597	1-Jan	.		ENST00000242310	Transcript			male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	ENSG00000122728	g.chr9:32635178A>G	18056			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TAF1L_HUMAN&rb=87&re=286&var=Y134H	NA	getma.org/?cm=var&var=hg19,9,32635178,A,G&fts=all	Y134H	--	--	1																																		uc003zrh.1_Intron	1	1		benign(0.066)	p.Y134H	NM_153809	NP_722516		tolerated_low_confidence(0.3)	1	TAF1L_HUMAN	TAF1L	HGNC	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)			1	490	-			UPI000007408A	134					SNV	TAF1L,missense_variant,p.Tyr134His,ENST00000242310,NM_153809.2;RP11-555J4.4,intron_variant,,ENST00000430787,;AL589642.1,non_coding_transcript_exon_variant,,ENST00000541085,;	uc003zrg.1	c.400T>C	490/6216	3	3			c.400T>C						9	SNP	c.(400-402)TAC>CAC	61	61			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26	Broad	TBP-associated factor RNA polymerase 1-like			32635178		0.478	ENSG00000122728	15286	g.chr9:32635178A>G	male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			234			234	284.401051	KEEP	49	37	-1	72	83	49	37	-1	288.03284	72	83	0.364444	1	0	0	0	0	1	0	0	0	--	--		0	G			uc003zrh.1_Intron	183	GBM-26-5134-TP	p.Y134H	A	TCCGAGTGGTAAAGGGGCTGC	NM_153809	NP_722516	32635178	Q8IZX4	TAF1L_HUMAN	0	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	490	-	G	G			Missense_Mutation	134						
TAF1L	0	broad.mit.edu	GRCh37	9	32632187	32632187	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-6450-01	TCGA-28-6450-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000242310.4:c.3391A>G	p.Lys1131Glu	p.K1131E	ENST00000242310	NM_153809.2	1131	Aaa/Gaa	0			1			C	K/E	uc003zrg.1	protein_coding	YES	CCDS35003.1			3391/5481									lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26	c.(3391-3393)AAA>GAA			hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,PIRSF_domain:PIRSF003047	TBP-associated factor RNA polymerase 1-like				ENSP00000418379		1-Jan									COSM3413593	1-Jan	.		ENST00000242310	Transcript			male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	ENSG00000122728	g.chr9:32632187T>C	18056			MODERATE		1.51	low	getma.org/?cm=msa&ty=f&p=TAF1L_HUMAN&rb=1048&re=1234&var=K1131E	NA	getma.org/?cm=var&var=hg19,9,32632187,T,C&fts=all	K1131E	--	--	1																																		uc003zrh.1_5'Flank	1	1		possibly_damaging(0.533)	p.K1131E	NM_153809	NP_722516		deleterious(0)	1	TAF1L_HUMAN	TAF1L	HGNC	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)			1	3481	-			UPI000007408A	1131					SNV	TAF1L,missense_variant,p.Lys1131Glu,ENST00000242310,NM_153809.2;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;AL589642.1,non_coding_transcript_exon_variant,,ENST00000541085,;	uc003zrg.1	c.3391A>G	3481/6216	4	4			c.3391A>G						9	SNP	c.(3391-3393)AAA>GAA	33	33			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26	Broad	TBP-associated factor RNA polymerase 1-like			32632187		0.468	ENSG00000122728	15286	g.chr9:32632187T>C	male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			234			234	110.702916	KEEP	16	20	-1	27	29	16	20	-1	111.476947	27	29	0.395062	1	0	0	0	0	1	0	0	0	--	--		0	C			uc003zrh.1_5'Flank	227	GBM-28-6450-TP	p.K1131E	T	GAGCTGGTTTTCTTGTTCTGC	NM_153809	NP_722516	32632187	Q8IZX4	TAF1L_HUMAN	0	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	3481	-	C	C			Missense_Mutation	1131						
TAF1L	138474		GRCh37	9	32633525	32633525	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000242310.4:c.2053C>T	p.Arg685Cys	p.R685C	ENST00000242310	NM_153809.2	685	Cgc/Tgc	0																																																																																																																																																																																																																																												
TAF2	6873	broad.mit.edu	GRCh37	8	120744252	120744252	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01	TCGA-02-2483-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378164.2:c.3512A>G	p.His1171Arg	p.H1171R	ENST00000378164	NM_003184.3	1171	cAt/cGt	0			1			C	H/R	uc003you.2	protein_coding	YES	CCDS34937.1			3512/3600									large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	c.(3511-3513)CAT>CGT			hmmpanther:PTHR15137,Low_complexity_(Seg):seg	TBP-associated factor 2				ENSP00000367406		26/26									COSM2149130,COSM2149129	26/26	.		ENST00000378164	Transcript	1		G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	ENSG00000064313	g.chr8:120744252T>C	11536			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=TAF2_HUMAN&rb=1007&re=1199&var=H1171R	NA	getma.org/?cm=var&var=hg19,8,120744252,T,C&fts=all	H1171R	--	--	1																																			1,1	1		possibly_damaging(0.888)	p.H1171R	NM_003184	NP_003175		tolerated_low_confidence(0.08)	1,1	TAF2_HUMAN	TAF2	HGNC	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)				26	3782	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		UPI0000210507	1171			Lys-rich.|His-rich.		SNV	TAF2,missense_variant,p.His1171Arg,ENST00000378164,NM_003184.3;TAF2,missense_variant,p.His347Arg,ENST00000529653,;TAF2,downstream_gene_variant,,ENST00000526969,;	uc003you.2	c.3512A>G	3811/5048	4	4			c.3512A>G						8	SNP	c.(3511-3513)CAT>CGT	42	42			large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	Broad	TBP-associated factor 2			120744252		0.458	ENSG00000064313	15287	g.chr8:120744252T>C	G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding							1948.707578	KEEP	266	313	-1	123	151	266	313	-1	1972.897608	123	151	0.682095	1	0	0	0	0	1	0	0	0	--	--		0	C				6	GBM-02-2483-TP	p.H1171R	T	TTTACTGTCATGCTTATGCTT	NM_003184	NP_003175	120744252	Q6P1X5	TAF2_HUMAN	0	STAD - Stomach adenocarcinoma(47;0.00185)		26	3782	-	C	C	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		Missense_Mutation	1171			Lys-rich.|His-rich.			
TAF2	0	broad.mit.edu	GRCh37	8	120831592	120831592	+	stop_gained	Nonsense_Mutation	SNP	G	G	C			TCGA-14-1829-01	TCGA-14-1829-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378164.2:c.293C>G	p.Ser98Ter	p.S98*	ENST00000378164	NM_003184.3	98	tCa/tGa	0			1			C	S/*	uc003you.2	protein_coding	YES	CCDS34937.1			293/3600									large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	c.(292-294)TCA>TGA			Pfam_domain:PF01433,hmmpanther:PTHR15137	TBP-associated factor 2				ENSP00000367406		26-Mar									COSM3412724,COSM3412723	26-Mar	.		ENST00000378164	Transcript	1		G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	ENSG00000064313	g.chr8:120831592G>C	11536			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,8,120831592,G,C&fts=all	S98*	--	--	1																																			1,1	1			p.S98*	NM_003184	NP_003175			1,1	TAF2_HUMAN	TAF2	HGNC	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)				3	563	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		UPI0000210507	98					SNV	TAF2,stop_gained,p.Ser98Ter,ENST00000378164,NM_003184.3;TAF2,intron_variant,,ENST00000521007,;	uc003you.2	c.293C>G	592/5048	5	3			c.293C>G						8	SNP	c.(292-294)TCA>TGA	58	58			large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	Broad	TBP-associated factor 2			120831592		0.289	ENSG00000064313	15287	g.chr8:120831592G>C	G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding							41.309214	KEEP	19	17	-1	148	155	19	17	-1	89.817621	148	155	0.101307	1	0	0	0	0	0	1	0	0	--	--		0	C				149	GBM-14-1829-TP	p.S98*	G	TTACTGTTTTGATTCACTGTG	NM_003184	NP_003175	120831592	Q6P1X5	TAF2_HUMAN	0	STAD - Stomach adenocarcinoma(47;0.00185)		3	563	-	C	C	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		Nonsense_Mutation	98						
TAF2	0	broad.mit.edu	GRCh37	8	120774701	120774701	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-26-1439-01	TCGA-26-1439-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378164.2:c.2512A>C	p.Asn838His	p.N838H	ENST00000378164	NM_003184.3	838	Aat/Cat	0			1			G	N/H	uc003you.2	protein_coding	YES	CCDS34937.1			2512/3600									large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	c.(2512-2514)AAT>CAT			hmmpanther:PTHR15137,Superfamily_domains:SSF48371	TBP-associated factor 2				ENSP00000367406		19/26									COSM3412722,COSM3412721	19/26	.		ENST00000378164	Transcript	1		G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	ENSG00000064313	g.chr8:120774701T>G	11536			MODERATE		2.445	medium	getma.org/?cm=msa&ty=f&p=TAF2_HUMAN&rb=807&re=1006&var=N838H	NA	getma.org/?cm=var&var=hg19,8,120774701,T,G&fts=all	N838H	--	--	1																																			1,1	1		possibly_damaging(0.893)	p.N838H	NM_003184	NP_003175		deleterious(0)	1,1	TAF2_HUMAN	TAF2	HGNC	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)				19	2782	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		UPI0000210507	838					SNV	TAF2,missense_variant,p.Asn838His,ENST00000378164,NM_003184.3;TAF2,upstream_gene_variant,,ENST00000529653,;TAF2,non_coding_transcript_exon_variant,,ENST00000519355,;TAF2,missense_variant,p.Asn26His,ENST00000523098,;TAF2,non_coding_transcript_exon_variant,,ENST00000523078,;	uc003you.2	c.2512A>C	2811/5048	4	4			c.2512A>C						8	SNP	c.(2512-2514)AAT>CAT	32	32			large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	Broad	TBP-associated factor 2			120774701		0.313	ENSG00000064313	15287	g.chr8:120774701T>G	G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding							43.938562	KEEP	8	10	-1	48	55	8	10	-1	54.494141	48	55	0.163265	1	0	0	0	0	1	0	0	0	--	--		0	G				179	GBM-26-1439-TP	p.N838H	T	TTTTCCATATTCAAAAATCTG	NM_003184	NP_003175	120774701	Q6P1X5	TAF2_HUMAN	0	STAD - Stomach adenocarcinoma(47;0.00185)		19	2782	-	G	G	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		Missense_Mutation	838						
TAF3	0	broad.mit.edu	GRCh37	10	8007617	8007625	+	inframe_deletion	In_Frame_Del	DEL	AGAAGGAGA	AGAAGGAGA	-			TCGA-28-5204-01	TCGA-28-5204-01	AGAAGGAGA	AGAAGGAGA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344293.5:c.2155_2163delAAGGAGAAG	p.Lys719_Lys721del	p.K719_K721del	ENST00000344293	NM_031923.3	715	gAGAAGGAGAag/gag	0			1			-	EKEK/E	uc010qbd.1	protein_coding	YES	CCDS41487.1			2144-2152/2790									ovary(1)	1	c.(2143-2154)GAGAAGGAGAAG>GAG			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12321:SF34,hmmpanther:PTHR12321	RNA polymerase II transcription factor TAFII140				ENSP00000340271		7-Mar	8.30E-06								rs757965266	7-Mar	.		ENST00000344293	Transcript			maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	ENSG00000165632	g.chr10:8007617_8007625delAGAAGGAGA	17303	11		MODERATE								--	--	1																																				1			p.KEK719del	NM_031923	NP_114129				TAF3_HUMAN	TAF3	HGNC	Q5VWG9	TAF3_HUMAN					3	2144_2152	+			UPI00004588FA	719_721			Lys-rich.		deletion	TAF3,inframe_deletion,p.Lys719_Lys721del,ENST00000344293,NM_031923.3;	uc010qbd.1	c.2144_2152delAGAAGGAGA	2350-2358/4872	5	5			c.2144_2152delAGAAGGAGA						10	DEL	c.(2143-2154)GAGAAGGAGAAG>GAG	14	14			ovary(1)	1	Broad	RNA polymerase II transcription factor TAFII140			8007625		0.115	ENSG00000165632	15288	g.chr10:8007617_8007625delAGAAGGAGA	maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding																				0.61	1	1	0	1	0	0	0	0	0	--	--		0	-				215	GBM-28-5204-TP	p.KEK719del	AGAAGGAGA	aaggaaaaagagaaggagaagaaggagaa	NM_031923	NP_114129	8007617	Q5VWG9	TAF3_HUMAN	0			3	2144_2152	+	-	-			In_Frame_Del	719_721			Lys-rich.			
TAF3	0	broad.mit.edu	GRCh37	10	8006394	8006394	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-32-2615-01	TCGA-32-2615-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344293.5:c.921A>G	p.Lys307=	p.K307=	ENST00000344293	NM_031923.3	307	aaA/aaG	0			1			G	K	uc010qbd.1	protein_coding	YES	CCDS41487.1			921/2790									ovary(1)	1	c.(919-921)AAA>AAG			Low_complexity_(Seg):seg,hmmpanther:PTHR12321:SF34,hmmpanther:PTHR12321	RNA polymerase II transcription factor TAFII140				ENSP00000340271		7-Mar									COSM3397262	7-Mar	.		ENST00000344293	Transcript			maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	ENSG00000165632	g.chr10:8006394A>G	17303			LOW								--	--	1																																			1	1			p.K307K	NM_031923	NP_114129			1	TAF3_HUMAN	TAF3	HGNC	Q5VWG9	TAF3_HUMAN					3	921	+			UPI00004588FA	307					SNV	TAF3,synonymous_variant,p.=,ENST00000344293,NM_031923.3;	uc010qbd.1	c.921A>G	1127/4872	3	3			c.921A>G						10	SNP	c.(919-921)AAA>AAG	64	64			ovary(1)	1	Broad	RNA polymerase II transcription factor TAFII140			8006394		0.393	ENSG00000165632	15288	g.chr10:8006394A>G	maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding							0.89238	KEEP	1	2	-1	14	25	1	2	-1	8.304592	14	25	0.075	1	0	0	0	0	0	0	1	0	--	--		0	G				239	GBM-32-2615-TP	p.K307K	A	CTGTATCCAAAGAAAAGAAAT	NM_031923	NP_114129	8006394	Q5VWG9	TAF3_HUMAN	0			3	921	+	G	G			Silent	307						
TAF4	6874	broad.mit.edu	GRCh37	20	60581775	60581775	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-0033-01	TCGA-02-0033-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252996.4:c.2014G>A	p.Ala672Thr	p.A672T	ENST00000252996	NM_003185.3	672	Gcg/Acg	0			1			T	A/T	uc002ybs.2	protein_coding	YES	CCDS33500.1			2014/3258									ovary(2)|pancreas(1)	3	c.(2014-2016)GCG>ACG			PROSITE_profiles:PS51119,hmmpanther:PTHR15138,hmmpanther:PTHR15138:SF13,Pfam_domain:PF07531,SMART_domains:SM00549,Superfamily_domains:SSF158553	TBP-associated factor 4				ENSP00000252996		15-Jul	2.48E-05	0.000106				1.59E-05			rs767666911,COSM2148944	15-Jul	.		ENST00000252996	Transcript			interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	ENSG00000130699	g.chr20:60581775C>T	11537			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=TAF4_HUMAN&rb=590&re=688&var=A672T	getma.org/pdb.php?prot=TAF4_HUMAN&from=590&to=688&var=A672T	getma.org/?cm=var&var=hg19,20,60581775,C,T&fts=all	A672T	--	--	1																																			0,1	1		probably_damaging(0.995)	p.A672T	NM_003185	NP_003176			0,1	TAF4_HUMAN	TAF4	HGNC	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)				7	2014	-	Breast(26;1e-08)		UPI000020630A	672			TAFH.		SNV	TAF4,missense_variant,p.Ala672Thr,ENST00000252996,NM_003185.3;TAF4,missense_variant,p.Ala19Thr,ENST00000488539,;TAF4,downstream_gene_variant,,ENST00000609045,;TAF4,non_coding_transcript_exon_variant,,ENST00000609041,;TAF4,non_coding_transcript_exon_variant,,ENST00000436129,;TAF4,downstream_gene_variant,,ENST00000486599,;	uc002ybs.2	c.2014G>A	2014/4628	1	1			c.2014G>A						20	SNP	c.(2014-2016)GCG>ACG	12	12			ovary(2)|pancreas(1)	3	Broad	TBP-associated factor 4			60581775		0.662	ENSG00000130699	15289	g.chr20:60581775C>T	interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity							45.18093	KEEP	9	13	-1	24	42	9	13	-1	48.883001	24	42	0.257143	1	0	0	0	0	1	0	0	0	--	--		0	T				2	GBM-02-0033-TP	p.A672T	C	ATGAAGGCCGCGGAGTCGGGG	NM_003185	NP_003176	60581775	O00268	TAF4_HUMAN	0	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		7	2014	-	T	T	Breast(26;1e-08)		Missense_Mutation	672			TAFH.			
TAF4	0	broad.mit.edu	GRCh37	20	60572701	60572706	+	inframe_deletion	In_Frame_Del	DEL	TTTGTG	TTTGTG	-			TCGA-26-5135-01	TCGA-26-5135-01	TTTGTG	TTTGTG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252996.4:c.2990_2995delCACAAA	p.Ala997_Met999delinsVal	p.A997_M999delinsV	ENST00000252996	NM_003185.3	997	gCACAAAtg/gtg	0			1			-	AQM/V	uc002ybs.2	protein_coding	YES	CCDS33500.1			2990-2995/3258									ovary(2)|pancreas(1)	3	c.(2989-2997)GCACAAATG>GTG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15138,hmmpanther:PTHR15138:SF13,Pfam_domain:PF05236	TBP-associated factor 4				ENSP00000252996		14/15										14/15	.		ENST00000252996	Transcript			interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	ENSG00000130699	g.chr20:60572701_60572706delTTTGTG	11537			MODERATE								--	--	1																																				1			p.997_999AQM>V	NM_003185	NP_003176				TAF4_HUMAN	TAF4	HGNC	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)				14	2990_2995	-	Breast(26;1e-08)		UPI000020630A	997_999					deletion	TAF4,inframe_deletion,p.Ala997_Met999delinsVal,ENST00000252996,NM_003185.3;TAF4,inframe_deletion,p.Ala25_Met27delinsVal,ENST00000474089,;TAF4,downstream_gene_variant,,ENST00000488539,;TAF4,non_coding_transcript_exon_variant,,ENST00000436129,;	uc002ybs.2	c.2990_2995delCACAAA	2990-2995/4628	5	5			c.2990_2995delCACAAA						20	DEL	c.(2989-2997)GCACAAATG>GTG	41	41			ovary(2)|pancreas(1)	3	Broad	TBP-associated factor 4			60572706		0.471	ENSG00000130699	15289	g.chr20:60572701_60572706delTTTGTG	interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity																				0.25	1	1	0	1	0	0	0	0	0	--	--		0	-				184	GBM-26-5135-TP	p.997_999AQM>V	TTTGTG	CGCTGTCTCATTTGTGCCAGTTCCTG	NM_003185	NP_003176	60572701	O00268	TAF4_HUMAN	0	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		14	2990_2995	-	-	-	Breast(26;1e-08)		In_Frame_Del	997_999						
TAF4B	6875	broad.mit.edu	GRCh37	18	23873445	23873445	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0747-01	TCGA-06-0747-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269142.5:c.1782A>G	p.Ala594=	p.A594=	ENST00000269142	NM_005640.1	594	gcA/gcG	0		G:0	1	G:0		G	A	uc002kvu.3	protein_coding	YES	CCDS42421.1			1782/2589									lung(1)|central_nervous_system(1)|skin(1)	3	c.(1780-1782)GCA>GCG			hmmpanther:PTHR15138,hmmpanther:PTHR15138:SF11	TAF4b RNA polymerase II, TATA box binding		G:0.001		ENSP00000269142	G:0	15-Sep	8.28E-06			0.000117					rs201212556,COSM2151774,COSM3403478	15-Sep	.		ENST00000269142	Transcript	1	G:0.0002	transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity	ENSG00000141384	g.chr18:23873445A>G	11538			LOW								--	--	1																																		TAF4B_uc002kvs.3_RNA|TAF4B_uc002kvt.3_Silent_p.A599A	0,1,1	1			p.A594A	NM_005640	NP_005631	G:0		0,1,1	TAF4B_HUMAN	TAF4B	HGNC	Q92750	TAF4B_HUMAN	Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)		B4DYT3_HUMAN,A4PBF8_HUMAN		9	2271	+	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		UPI00006C65F2	594					SNV	TAF4B,synonymous_variant,p.=,ENST00000269142,NM_005640.1;TAF4B,synonymous_variant,p.=,ENST00000578121,;TAF4B,synonymous_variant,p.=,ENST00000400466,;TAF4B,synonymous_variant,p.=,ENST00000418698,;	uc002kvu.3	c.1782A>G	2780/5260	3	3			c.1782A>G						18	SNP	c.(1780-1782)GCA>GCG	61	61			lung(1)|central_nervous_system(1)|skin(1)	3	Broad	TAF4b RNA polymerase II, TATA box binding			23873445		0.269	ENSG00000141384	15290	g.chr18:23873445A>G	transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity							66.664658	KEEP	14	10	-1	26	12	14	10	-1	67.163882	26	12	0.396226	1	0	0	0	0	0	0	1	0	--	--		0	G			TAF4B_uc002kvs.3_RNA|TAF4B_uc002kvt.3_Silent_p.A599A	68	GBM-06-0747-TP	p.A594A	A	CACTTCAAGCATCTCCTACTC	NM_005640	NP_005631	23873445	Q92750	TAF4B_HUMAN	0	Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)		9	2271	+	G	G	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Silent	594						
TAF5	0	broad.mit.edu	GRCh37	10	105145152	105145152	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-4213-01	TCGA-32-4213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369839.3:c.1734G>A	p.Leu578=	p.L578=	ENST00000369839	NM_006951.3	578	ttG/ttA	0			1			A	L	uc001kwv.2	protein_coding	YES	CCDS7547.1			1734/2403									ovary(2)	2	c.(1732-1734)TTG>TTA			PROSITE_profiles:PS50294,hmmpanther:PTHR19879,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	TBP-associated factor 5				ENSP00000358854		11-Aug									COSM3396894	11-Aug	.		ENST00000369839	Transcript			histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	ENSG00000148835	g.chr10:105145152G>A	11539			LOW								--	--	1																																		TAF5_uc010qqq.1_Intron	1	1			p.L578L	NM_006951	NP_008882			1	TAF5_HUMAN	TAF5	HGNC	Q15542	TAF5_HUMAN		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)			8	1757	+		Colorectal(252;0.0747)|Breast(234;0.128)	UPI000013DB5B	578			WD 2.		SNV	TAF5,synonymous_variant,p.=,ENST00000369839,NM_006951.3;TAF5,intron_variant,,ENST00000351396,;USMG5,downstream_gene_variant,,ENST00000369825,;USMG5,downstream_gene_variant,,ENST00000369811,;USMG5,downstream_gene_variant,,ENST00000369815,NM_001206427.1;USMG5,downstream_gene_variant,,ENST00000337003,NM_032747.3;USMG5,downstream_gene_variant,,ENST00000309579,NM_001206426.1;	uc001kwv.2	c.1734G>A	1757/3268	2	2			c.1734G>A						10	SNP	c.(1732-1734)TTG>TTA	32	32			ovary(2)	2	Broad	TBP-associated factor 5			105145152		0.423	ENSG00000148835	15291	g.chr10:105145152G>A	histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding							-7.524267	KEEP	2	1	-1	31	35	2	1	-1	6.476138	31	35	0.046875	1	0	0	0	0	0	0	1	0	--	--		0	A			TAF5_uc010qqq.1_Intron	247	GBM-32-4213-TP	p.L578L	G	TTACTTGTTTGGTGGGATATA	NM_006951	NP_008882	105145152	Q15542	TAF5_HUMAN	0		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	8	1757	+	A	A		Colorectal(252;0.0747)|Breast(234;0.128)	Silent	578			WD 2.			
TAF6	6878	broad.mit.edu	GRCh37	7	99706049	99706049	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01	TCGA-06-2559-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000437822.2:c.1510C>T	p.Arg504Trp	p.R504W	ENST00000437822	NM_001190415.1	504	Cgg/Tgg	0			1			A	R/W	uc003uti.2	protein_coding		CCDS5686.1			1399/2034									ovary(1)|central_nervous_system(1)	2	c.(1399-1401)CGG>TGG			Low_complexity_(Seg):seg,hmmpanther:PTHR10221,hmmpanther:PTHR10221:SF10	TBP-associated factor 6 isoform alpha				ENSP00000344537		13/15									COSM2152697	13/15	.		ENST00000344095	Transcript			negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	ENSG00000106290	g.chr7:99706049G>A	11540			MODERATE		2.395	medium	getma.org/?cm=msa&ty=f&p=TAF6_HUMAN&rb=400&re=599&var=R467W	NA	getma.org/?cm=var&var=hg19,7,99706049,G,A&fts=all	R467W	--	--	1																																		AP4M1_uc003utd.2_Intron|TAF6_uc003utg.2_Missense_Mutation_p.R389W|TAF6_uc003uth.2_Missense_Mutation_p.R524W|TAF6_uc003utk.2_Missense_Mutation_p.R467W|TAF6_uc011kji.1_Missense_Mutation_p.R504W|TAF6_uc003utj.2_Missense_Mutation_p.R457W|TAF6_uc003utl.2_Missense_Mutation_p.R467W|TAF6_uc003utm.2_Missense_Mutation_p.R467W	1			probably_damaging(0.992)	p.R467W	NM_139315	NP_647476		deleterious(0.04)	1	TAF6_HUMAN	TAF6	HGNC	P49848	TAF6_HUMAN			C9JTY6_HUMAN,C9JIS2_HUMAN,C9JHQ8_HUMAN,C9J7C4_HUMAN,A4D299_HUMAN		13	1480	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		UPI0000044681	467					SNV	TAF6,missense_variant,p.Arg467Trp,ENST00000344095,NM_005641.3;TAF6,missense_variant,p.Arg391Trp,ENST00000418432,;TAF6,missense_variant,p.Arg524Trp,ENST00000472509,;TAF6,missense_variant,p.Arg467Trp,ENST00000453269,NM_139315.2;TAF6,missense_variant,p.Arg504Trp,ENST00000437822,NM_001190415.1;TAF6,missense_variant,p.Arg467Trp,ENST00000452041,;AP4M1,intron_variant,,ENST00000421755,;AP4M1,intron_variant,,ENST00000450807,;AP4M1,downstream_gene_variant,,ENST00000429084,;AP4M1,downstream_gene_variant,,ENST00000359593,NM_004722.3;AP4M1,downstream_gene_variant,,ENST00000422582,;AP4M1,downstream_gene_variant,,ENST00000438383,;TAF6,downstream_gene_variant,,ENST00000493322,;AP4M1,downstream_gene_variant,,ENST00000439416,;TAF6,downstream_gene_variant,,ENST00000440225,;TAF6,downstream_gene_variant,,ENST00000523306,;AP4M1,downstream_gene_variant,,ENST00000445295,;TAF6,downstream_gene_variant,,ENST00000449571,;TAF6,downstream_gene_variant,,ENST00000452438,;AP4M1,downstream_gene_variant,,ENST00000478501,;AP4M1,3_prime_UTR_variant,,ENST00000416938,;TAF6,3_prime_UTR_variant,,ENST00000421980,;AP4M1,downstream_gene_variant,,ENST00000445208,;TAF6,downstream_gene_variant,,ENST00000487288,;AP4M1,downstream_gene_variant,,ENST00000463195,;AP4M1,downstream_gene_variant,,ENST00000446007,;AP4M1,downstream_gene_variant,,ENST00000394061,;AP4M1,downstream_gene_variant,,ENST00000489387,;AP4M1,downstream_gene_variant,,ENST00000479916,;TAF6,downstream_gene_variant,,ENST00000487115,;	uc003uti.2	c.1399C>T	1925/2727	1	1			c.1399C>T						7	SNP	c.(1399-1401)CGG>TGG	56	56			ovary(1)|central_nervous_system(1)	2	Broad	TBP-associated factor 6 isoform alpha			99706049		0.642	ENSG00000106290	15293	g.chr7:99706049G>A	negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity							143.912716	KEEP	32	33	-1	96	85	32	33	-1	154.874005	96	85	0.260664	1	0	0	0	0	1	0	0	0	--	--		0	A			AP4M1_uc003utd.2_Intron|TAF6_uc003utg.2_Missense_Mutation_p.R389W|TAF6_uc003uth.2_Missense_Mutation_p.R524W|TAF6_uc003utk.2_Missense_Mutation_p.R467W|TAF6_uc011kji.1_Missense_Mutation_p.R504W|TAF6_uc003utj.2_Missense_Mutation_p.R457W|TAF6_uc003utl.2_Missense_Mutation_p.R467W|TAF6_uc003utm.2_Missense_Mutation_p.R467W	83	GBM-06-2559-TP	p.R467W	G	GCCTGGGCCCGAGCCTTGACC	NM_139315	NP_647476	99706049	P49848	TAF6_HUMAN	0			13	1480	-	A	A	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		Missense_Mutation	467						
TAF6	0	broad.mit.edu	GRCh37	7	99711354	99711354	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-5133-01	TCGA-26-5133-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344095.4:c.282C>T	p.Phe94=	p.F94=	ENST00000344095	NM_005641.3	94	ttC/ttT	0			1			A	F	uc003uti.2	protein_coding		CCDS5686.1			282/2034									ovary(1)|central_nervous_system(1)	2	c.(280-282)TTC>TTT			hmmpanther:PTHR10221,hmmpanther:PTHR10221:SF10	TBP-associated factor 6 isoform alpha				ENSP00000344537		15-Apr									COSM3412584	15-Apr	.		ENST00000344095	Transcript			negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	ENSG00000106290	g.chr7:99711354G>A	11540			LOW								--	--	1																																		TAF6_uc003utg.2_Silent_p.F35F|TAF6_uc003uth.2_Silent_p.F151F|TAF6_uc003utk.2_Silent_p.F94F|TAF6_uc011kji.1_Silent_p.F131F|TAF6_uc003utj.2_Silent_p.F84F|TAF6_uc003utl.2_Silent_p.F94F|TAF6_uc003utm.2_Silent_p.F94F|TAF6_uc003utn.1_RNA	1				p.F94F	NM_139315	NP_647476			1	TAF6_HUMAN	TAF6	HGNC	P49848	TAF6_HUMAN			C9JTY6_HUMAN,C9JIS2_HUMAN,C9JHQ8_HUMAN,C9J7C4_HUMAN,A4D299_HUMAN		4	363	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		UPI0000044681	94					SNV	TAF6,synonymous_variant,p.=,ENST00000344095,NM_005641.3;TAF6,synonymous_variant,p.=,ENST00000418432,;TAF6,synonymous_variant,p.=,ENST00000472509,;TAF6,synonymous_variant,p.=,ENST00000453269,NM_139315.2;TAF6,synonymous_variant,p.=,ENST00000437822,NM_001190415.1;TAF6,synonymous_variant,p.=,ENST00000452041,;TAF6,synonymous_variant,p.=,ENST00000493322,;TAF6,synonymous_variant,p.=,ENST00000440225,;TAF6,synonymous_variant,p.=,ENST00000523306,;TAF6,synonymous_variant,p.=,ENST00000451699,;TAF6,synonymous_variant,p.=,ENST00000449571,;TAF6,synonymous_variant,p.=,ENST00000452438,;TAF6,synonymous_variant,p.=,ENST00000520135,;AP4M1,downstream_gene_variant,,ENST00000421755,;AP4M1,downstream_gene_variant,,ENST00000450807,;TAF6,downstream_gene_variant,,ENST00000417349,;TAF6,downstream_gene_variant,,ENST00000460673,;TAF6,downstream_gene_variant,,ENST00000431404,;RP11-506M12.1,downstream_gene_variant,,ENST00000494221,;TAF6,downstream_gene_variant,,ENST00000497233,;TAF6,synonymous_variant,p.=,ENST00000421980,;TAF6,non_coding_transcript_exon_variant,,ENST00000487288,;AP4M1,downstream_gene_variant,,ENST00000416938,;TAF6,upstream_gene_variant,,ENST00000487115,;	uc003uti.2	c.282C>T	808/2727	2	2			c.282C>T						7	SNP	c.(280-282)TTC>TTT	37	37			ovary(1)|central_nervous_system(1)	2	Broad	TBP-associated factor 6 isoform alpha			99711354		0.602	ENSG00000106290	15293	g.chr7:99711354G>A	negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity							-6.149771	KEEP	3	2	-1	33	40	3	2	-1	7.443311	33	40	0.059701	1	0	0	0	0	0	0	1	0	--	--		0	A			TAF6_uc003utg.2_Silent_p.F35F|TAF6_uc003uth.2_Silent_p.F151F|TAF6_uc003utk.2_Silent_p.F94F|TAF6_uc011kji.1_Silent_p.F131F|TAF6_uc003utj.2_Silent_p.F84F|TAF6_uc003utl.2_Silent_p.F94F|TAF6_uc003utm.2_Silent_p.F94F|TAF6_uc003utn.1_RNA	182	GBM-26-5133-TP	p.F94F	G	AGGCGAAGCGGAAAGGAATGA	NM_139315	NP_647476	99711354	P49848	TAF6_HUMAN	0			4	363	-	A	A	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		Silent	94						
TAF7	0	broad.mit.edu	GRCh37	5	140698719	140698719	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-4157-01	TCGA-14-4157-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313368.5:c.893G>T	p.Arg298Met	p.R298M	ENST00000313368	NM_005642.2	298	aGg/aTg	0			1			A	R/M	uc003ljg.2	protein_coding	YES	CCDS4259.1			893/1050										0	c.(892-894)AGG>ATG			hmmpanther:PTHR12228,hmmpanther:PTHR12228:SF3	TATA box-binding protein-associated factor 2F				ENSP00000312709		1-Jan									COSM3409886	1-Jan	.		ENST00000313368	Transcript			negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding	ENSG00000178913	g.chr5:140698719C>A	11541			MODERATE		2.095	medium	getma.org/?cm=msa&ty=f&p=TAF7_HUMAN&rb=278&re=314&var=R298M	NA	getma.org/?cm=var&var=hg19,5,140698719,C,A&fts=all	R298M	--	--	1																																			1	1		probably_damaging(0.969)	p.R298M	NM_005642	NP_005633		deleterious(0)	1	TAF7_HUMAN	TAF7	HGNC	Q15545	TAF7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)				1	1633	-			UPI00001367E8	298			Potential.		SNV	TAF7,missense_variant,p.Arg298Met,ENST00000313368,NM_005642.2;AC005618.1,downstream_gene_variant,,ENST00000535969,;	uc003ljg.2	c.893G>T	1612/2274	2	2			c.893G>T						5	SNP	c.(892-894)AGG>ATG	43	43				0	Broad	TATA box-binding protein-associated factor 2F			140698719		0.453	ENSG00000178913	15295	g.chr5:140698719C>A	negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding							-24.243484	KEEP	2	1	0.333333333	47	73	2	1	0.333333333	6.32474	47	73	0.02459	1	0	0	0	0	1	0	0	0	--	--		0	A				152	GBM-14-4157-TP	p.R298M	C	TCGTTTTGCCCTGTCCTGGGT	NM_005642	NP_005633	140698719	Q15545	TAF7_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1633	-	A	A			Missense_Mutation	298			Potential.			
TAF7L	0	broad.mit.edu	GRCh37	X	100531023	100531023	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-12-1597-01	TCGA-12-1597-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372907.3:c.1249G>T	p.Asp417Tyr	p.D417Y	ENST00000372907	NM_024885.3	417	Gat/Tat	0			1			A	D/Y	uc004ehb.2	protein_coding	YES	CCDS35347.1			1249/1389									breast(1)	1	c.(1249-1251)GAT>TAT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12228,hmmpanther:PTHR12228:SF1	TATA box binding protein-associated factor, RNA				ENSP00000361998		13-Nov									COSM3405773	13-Nov	.		ENST00000372907	Transcript			cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	ENSG00000102387	g.chrX:100531023C>A	11548			MODERATE		2.07	medium	getma.org/?cm=msa&ty=f&p=TAF7L_HUMAN&rb=336&re=460&var=D417Y	NA	getma.org/?cm=var&var=hg19,X,100531023,C,A&fts=all	D417Y	--	--	1																																		TAF7L_uc004eha.2_Missense_Mutation_p.D257Y	1	1		benign(0.071)	p.D417Y	NM_024885	NP_079161		deleterious(0.05)	1	TAF7L_HUMAN	TAF7L	HGNC	Q5H9L4	TAF7L_HUMAN					11	1261	-			UPI0000212176	417			Potential.		SNV	TAF7L,missense_variant,p.Asp417Tyr,ENST00000372907,NM_024885.3;TAF7L,missense_variant,p.Asp257Tyr,ENST00000372905,;TAF7L,missense_variant,p.Asp257Tyr,ENST00000324762,;TAF7L,missense_variant,p.Asp331Tyr,ENST00000356784,NM_001168474.1;	uc004ehb.2	c.1249G>T	1261/2341	2	2			c.1249G>T						23	SNP	c.(1249-1251)GAT>TAT	30	30			breast(1)	1	Broad	TATA box binding protein-associated factor, RNA			100531023		0.353	ENSG00000102387	15296	g.chrX:100531023C>A	cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	Ovarian(104;431 1530 3210 15406 18594)			Ovarian(104;431 1530 3210 15406 18594)			9.914063	KEEP	11	5	0.3125	84	67	11	5	0.3125	31.870234	84	67	0.105634	1	0	0	0	0	1	0	0	0	--	--		0	A			TAF7L_uc004eha.2_Missense_Mutation_p.D257Y	124	GBM-12-1597-TP	p.D417Y	C	ATGATGAGATCCTTCTGTCTT	NM_024885	NP_079161	100531023	Q5H9L4	TAF7L_HUMAN	0			11	1261	-	A	A			Missense_Mutation	417			Potential.			
TAF7L	54457		GRCh37	X	100538449	100538449	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000372907.3:c.526G>C	p.Asp176His	p.D176H	ENST00000372907	NM_024885.3	176	Gac/Cac	0																																																																																																																																																																																																																																												
TAF7L	54457		GRCh37	X	100538507	100538507	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000372907.3:c.468G>C	p.Leu156Phe	p.L156F	ENST00000372907	NM_024885.3	156	ttG/ttC	0																																																																																																																																																																																																																																												
TAF7L	54457		GRCh37	X	100541563	100541563	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000372907.3:c.403C>T	p.Pro135Ser	p.P135S	ENST00000372907	NM_024885.3	135	Cct/Tct	0																																																																																																																																																																																																																																												
TAF9	0	broad.mit.edu	GRCh37	5	68647987	68647987	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-19-4068-01	TCGA-19-4068-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380822.4:c.420C>A	p.Ile140=	p.I140=	ENST00000380822	NM_016283.4	140	atC/atA	0			1			T	I	uc003jwa.2	protein_coding		CCDS4001.1			420/519										0	c.(418-420)ATC>ATA			HAMAP:MF_00039,hmmpanther:PTHR12595,hmmpanther:PTHR12595:SF0,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	TAF9 RNA polymerase II, TATA box binding				ENSP00000370201		5-May	2.47E-05	0.000192				1.50E-05			rs776574961,COSM3410384,COSM3410383	5-May	.		ENST00000380822	Transcript			histone H3 acetylation|negative regulation of apoptosis|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of cell growth|positive regulation of response to cytokine stimulus|positive regulation of transcription from RNA polymerase II promoter|response to interleukin-1|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|PCAF complex|pre-snoRNP complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	activating transcription factor binding|C2H2 zinc finger domain binding|p53 binding|transcription coactivator activity|transcription regulatory region DNA binding	ENSG00000085231	g.chr5:68647987G>T	11542			LOW								--	--	1																																		TAF9_uc003jwb.2_Silent_p.I137I	0,1,1				p.I140I	NM_016283	NP_057367			0,1,1	KAD6_HUMAN	TAF9	HGNC	Q16594	TAF9_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)			5	512	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	UPI0000037723	Error:Variant_position_missing_in_Q16594_after_alignment					SNV	TAF9,synonymous_variant,p.=,ENST00000380822,NM_016283.4;TAF9,synonymous_variant,p.=,ENST00000380818,NM_001015891.1;TAF9,synonymous_variant,p.=,ENST00000512561,;TAF9,non_coding_transcript_exon_variant,,ENST00000502819,;RP11-1113N2.4,downstream_gene_variant,,ENST00000604683,;	uc003jwa.2	c.420C>A	472/1648	1	1			c.420C>A						5	SNP	c.(418-420)ATC>ATA	10	10				0	Broad	TAF9 RNA polymerase II, TATA box binding			68647987		0.373	ENSG00000085231	15298	g.chr5:68647987G>T	histone H3 acetylation|negative regulation of apoptosis|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of cell growth|positive regulation of response to cytokine stimulus|positive regulation of transcription from RNA polymerase II promoter|response to interleukin-1|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|PCAF complex|pre-snoRNP complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	activating transcription factor binding|C2H2 zinc finger domain binding|p53 binding|transcription coactivator activity|transcription regulatory region DNA binding							-22.867919	KEEP	2	2	0.5	71	76	2	2	0.5	6.856628	71	76	0.02521	1	0	0	0	0	0	0	1	0	--	--		0	T			TAF9_uc003jwb.2_Silent_p.I137I	168	GBM-19-4068-TP	p.I140I	G	GCTGATGCACGATTTCTTCCT	NM_016283	NP_057367	68647987	Q16594	TAF9_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)	5	512	-	T	T		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	Silent	Error:Variant_position_missing_in_Q16594_after_alignment						
TAGLN2	0	broad.mit.edu	GRCh37	1	159889092	159889092	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-6700-01	TCGA-06-6700-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000320307.4:c.430T>C	p.Phe144Leu	p.F144L	ENST00000320307	NM_001277223.1	144	Ttc/Ctc	0			1			G	F/L	uc001fum.1	protein_coding		CCDS1189.1			430/600										0	c.(430-432)TTC>CTC			Gene3D:1.10.418.10,Prints_domain:PR00890,hmmpanther:PTHR18959,hmmpanther:PTHR18959:SF44,Superfamily_domains:SSF47576	transgelin 2				ENSP00000357075		5-Apr									COSM3399877,COSM3399878	5-Apr	.		ENST00000320307	Transcript			muscle organ development	nuclear membrane|plasma membrane	protein binding	ENSG00000158710	g.chr1:159889092A>G	11554			MODERATE		1.3	low	getma.org/?cm=msa&ty=f&p=TAGL2_HUMAN&rb=137&re=173&var=F144L	getma.org/pdb.php?prot=TAGL2_HUMAN&from=137&to=173&var=F144L	getma.org/?cm=var&var=hg19,1,159889092,A,G&fts=all	F144L	--	--	1																																		CCDC19_uc001ful.2_Intron|TAGLN2_uc001fun.1_Missense_Mutation_p.F144L|TAGLN2_uc001fuo.1_Missense_Mutation_p.F144L	1,1			benign(0.015)	p.F144L	NM_003564	NP_003555		tolerated(0.08)	1,1	TAGL2_HUMAN	TAGLN2	HGNC	P37802	TAGL2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)				3	480	-	all_hematologic(112;0.0597)		UPI000013687B	144					SNV	TAGLN2,missense_variant,p.Phe144Leu,ENST00000368097,NM_003564.2;TAGLN2,missense_variant,p.Phe165Leu,ENST00000368096,NM_001277224.1;TAGLN2,missense_variant,p.Phe144Leu,ENST00000397334,;TAGLN2,missense_variant,p.Phe144Leu,ENST00000320307,NM_001277223.1;TAGLN2,non_coding_transcript_exon_variant,,ENST00000478033,;	uc001fum.1	c.430T>C	516/709	4	4			c.430T>C						1	SNP	c.(430-432)TTC>CTC	29	29				0	Broad	transgelin 2			159889092		0.547	ENSG00000158710	15301	g.chr1:159889092A>G	muscle organ development	nuclear membrane|plasma membrane	protein binding							49.102712	KEEP	8	13	-1	38	45	8	13	-1	55.241744	38	45	0.216867	1	0	0	0	0	1	0	0	0	--	--		0	G			CCDC19_uc001ful.2_Intron|TAGLN2_uc001fun.1_Missense_Mutation_p.F144L|TAGLN2_uc001fuo.1_Missense_Mutation_p.F144L	114	GBM-06-6700-TP	p.F144L	A	TCCCCAGAGAAGAGCCCATCA	NM_003564	NP_003555	159889092	P37802	TAGL2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	480	-	G	G	all_hematologic(112;0.0597)		Missense_Mutation	144						
TAL1	0	broad.mit.edu	GRCh37	1	47685764	47685764	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-1825-01	TCGA-14-1825-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294339.3:c.624C>T	p.Ala208=	p.A208=	ENST00000294339	NM_003189.2	208	gcC/gcT	0			1			A	A	uc001cqx.2	protein_coding	YES	CCDS547.1			624/996	T		TRD@|SIL		lymphoblastic leukemia/biphasic				lung(1)	1	c.(622-624)GCC>GCT			Gene3D:4.10.280.10,Pfam_domain:PF00010,PROSITE_profiles:PS50888,hmmpanther:PTHR13864,hmmpanther:PTHR13864:SF16,SMART_domains:SM00353,Superfamily_domains:SSF47459	T-cell acute lymphocytic leukemia 1				ENSP00000294339		4-Apr	1.65E-05		8.66E-05			1.52E-05			rs780848420,COSM3400858,COSM3400859	4-Apr	.		ENST00000294339	Transcript	1		basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity	ENSG00000162367	g.chr1:47685764G>A	11556			LOW								--	--	1																																		TAL1_uc009vyq.2_5'UTR|TAL1_uc001cqy.2_Silent_p.A208A	0,1,1	1			p.A208A	NM_003189	NP_003180			0,1,1	TAL1_HUMAN	TAL1	HGNC	P17542	TAL1_HUMAN			Q9UE36_HUMAN		4	1201	-			UPI00001368B2	208			Helix-loop-helix motif.		SNV	TAL1,synonymous_variant,p.=,ENST00000371883,;TAL1,synonymous_variant,p.=,ENST00000294339,NM_003189.2;TAL1,synonymous_variant,p.=,ENST00000371884,NM_001287347.1;TAL1,non_coding_transcript_exon_variant,,ENST00000459729,;TAL1,downstream_gene_variant,,ENST00000464796,;	uc001cqx.2	c.624C>T	1201/5001	2	2			c.624C>T	T		TRD@|SIL		lymphoblastic leukemia/biphasic	1	SNP	c.(622-624)GCC>GCT	20	20			lung(1)	1	Broad	T-cell acute lymphocytic leukemia 1			47685764		0.572	ENSG00000162367	15303	g.chr1:47685764G>A	basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			17			17	30.145732	KEEP	8	6	-1	27	22	8	6	-1	34.023878	27	22	0.22807	1	0	0	0	0	0	0	1	0	--	--		0	A			TAL1_uc009vyq.2_5'UTR|TAL1_uc001cqy.2_Silent_p.A208A	148	GBM-14-1825-TP	p.A208A	G	TGCGGAGCTCGGCAAAGGCCC	NM_003189	NP_003180	47685764	P17542	TAL1_HUMAN	0			4	1201	-	A	A			Silent	208			Helix-loop-helix motif.			
TANC1	85461	broad.mit.edu	GRCh37	2	160042398	160042398	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0881-01	TCGA-06-0881-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263635.6:c.2607G>A	p.Ala869=	p.A869=	ENST00000263635	NM_033394.2	869	gcG/gcA	0	A:0		1			A	A	uc002uag.2	protein_coding	YES	CCDS42766.1			2607/5586									ovary(2)|central_nervous_system(1)	3	c.(2605-2607)GCG>GCA			hmmpanther:PTHR24166,hmmpanther:PTHR24166:SF23	tetratricopeptide repeat, ankyrin repeat and			A:0.0001	ENSP00000263635		15/27	8.26E-05	0.000104				9.08E-05			rs371024246,COSM3300120	15/27	.		ENST00000263635	Transcript				cell junction|postsynaptic density|postsynaptic membrane	binding	ENSG00000115183	g.chr2:160042398G>A	29364			LOW								--	--	1																																		TANC1_uc010zcm.1_Silent_p.A861A|TANC1_uc010fom.1_Silent_p.A675A	0,1	1			p.A869A	NM_033394	NP_203752			0,1	TANC1_HUMAN	TANC1	HGNC	Q9C0D5	TANC1_HUMAN					15	2881	+			UPI0000421D80	869					SNV	TANC1,synonymous_variant,p.=,ENST00000263635,NM_033394.2,NM_001145909.1;TANC1,synonymous_variant,p.=,ENST00000454300,;	uc002uag.2	c.2607G>A	2844/7470	1	1			c.2607G>A						2	SNP	c.(2605-2607)GCG>GCA	51	51			ovary(2)|central_nervous_system(1)	3	Broad	tetratricopeptide repeat, ankyrin repeat and			160042398		0.488	ENSG00000115183	15306	g.chr2:160042398G>A		cell junction|postsynaptic density|postsynaptic membrane	binding							-5.022362	KEEP	1	2	-1	44	18	1	2	-1	6.477933	44	18	0.054545	1	0	0	0	0	0	0	1	0	--	--		0	A			TANC1_uc010zcm.1_Silent_p.A861A|TANC1_uc010fom.1_Silent_p.A675A	76	GBM-06-0881-TP	p.A869A	G	TCCTGAAGGCGCACATTTTCA	NM_033394	NP_203752	160042398	Q9C0D5	TANC1_HUMAN	0			15	2881	+	A	A			Silent	869						
TANC1	85461	broad.mit.edu	GRCh37	2	160074082	160074082	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263635.6:c.3319C>T	p.Arg1107Trp	p.R1107W	ENST00000263635	NM_033394.2	1107	Cgg/Tgg	0			1			T	R/W	uc002uag.2	protein_coding	YES	CCDS42766.1			3319/5586									ovary(2)|central_nervous_system(1)	3	c.(3319-3321)CGG>TGG			Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24166,hmmpanther:PTHR24166:SF23,SMART_domains:SM00248,Superfamily_domains:SSF48403	tetratricopeptide repeat, ankyrin repeat and				ENSP00000263635		20/27	3.31E-05					4.50E-05		6.06E-05	rs764599245,COSM3406963	20/27	.		ENST00000263635	Transcript				cell junction|postsynaptic density|postsynaptic membrane	binding	ENSG00000115183	g.chr2:160074082C>T	29364			MODERATE		1.86	low	getma.org/?cm=msa&ty=f&p=TANC1_HUMAN&rb=1085&re=1175&var=R1107W	getma.org/pdb.php?prot=TANC1_HUMAN&from=1085&to=1175&var=R1107W	getma.org/?cm=var&var=hg19,2,160074082,C,T&fts=all	R1107W	--	--	1																																		TANC1_uc010zcm.1_Missense_Mutation_p.R1099W|TANC1_uc010fom.1_Missense_Mutation_p.R913W|TANC1_uc010fon.2_5'UTR	0,1	1		probably_damaging(0.946)	p.R1107W	NM_033394	NP_203752		tolerated(0.08)	0,1	TANC1_HUMAN	TANC1	HGNC	Q9C0D5	TANC1_HUMAN					20	3593	+			UPI0000421D80	1107			ANK 6.		SNV	TANC1,missense_variant,p.Arg1107Trp,ENST00000263635,NM_033394.2,NM_001145909.1;TANC1,missense_variant,p.Arg1001Trp,ENST00000454300,;TANC1,non_coding_transcript_exon_variant,,ENST00000470074,;	uc002uag.2	c.3319C>T	3556/7470	1	1			c.3319C>T						2	SNP	c.(3319-3321)CGG>TGG	13	13			ovary(2)|central_nervous_system(1)	3	Broad	tetratricopeptide repeat, ankyrin repeat and			160074082		0.597	ENSG00000115183	15306	g.chr2:160074082C>T		cell junction|postsynaptic density|postsynaptic membrane	binding							2.169707	KEEP	5	11	-1	81	89	5	11	-1	32.553547	81	89	0.081871	1	0	0	0	0	1	0	0	0	--	--		0	T			TANC1_uc010zcm.1_Missense_Mutation_p.R1099W|TANC1_uc010fom.1_Missense_Mutation_p.R913W|TANC1_uc010fon.2_5'UTR	102	GBM-06-5858-TP	p.R1107W	C	TGCTGTGTCGCGGACAAACAG	NM_033394	NP_203752	160074082	Q9C0D5	TANC1_HUMAN	0			20	3593	+	T	T			Missense_Mutation	1107			ANK 6.			
TANC2	0	broad.mit.edu	GRCh37	17	61271350	61271350	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G			TCGA-19-5952-01	TCGA-19-5952-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000424789.2:c.212-2A>G		p.X71_splice	ENST00000424789	NM_025185.3			0			1			G		uc002jal.3	protein_coding	YES	CCDS45754.1			212/5973									ovary(2)	2	c.e4-2				tetratricopeptide repeat, ankyrin repeat and				ENSP00000387593											COSM3403088,COSM3403089		.		ENST00000424789	Transcript					binding	ENSG00000170921	g.chr17:61271350A>G	30212			HIGH	24-Mar							--	--	1																																		TANC2_uc010wpe.1_5'Flank	1,1	1			p.G71_splice	NM_025185	NP_079461			1,1	TANC2_HUMAN	TANC2	HGNC	Q9HCD6	TANC2_HUMAN					4	235	+			UPI00015D57DF						SNV	TANC2,splice_acceptor_variant,,ENST00000424789,NM_025185.3;TANC2,splice_acceptor_variant,,ENST00000389520,;TANC2,splice_acceptor_variant,,ENST00000580068,;TANC2,splice_acceptor_variant,,ENST00000580466,;TANC2,upstream_gene_variant,,ENST00000583356,;AC037445.1,non_coding_transcript_exon_variant,,ENST00000581421,;AC037445.1,non_coding_transcript_exon_variant,,ENST00000435892,;	uc002jal.3	c.212_splice	-/11721	5	4			c.212_splice						17	SNP	c.e4-2	20	20			ovary(2)	2	Broad	tetratricopeptide repeat, ankyrin repeat and			61271350		0.423	ENSG00000170921	15307	g.chr17:61271350A>G			binding							1.801957	KEEP	0	3	-1	17	9	0	3	-1	6.345113	17	9	0.103448	1	0	0	0	0	0	0	0	1	--	--		0	G			TANC2_uc010wpe.1_5'Flank	172	GBM-19-5952-TP	p.G71_splice	A	TTCTTGTTACAGGTGATGCTG	NM_025185	NP_079461	61271350	Q9HCD6	TANC2_HUMAN	0			4	235	+	G	G			Splice_Site							
TANC2	0	broad.mit.edu	GRCh37	17	61428697	61428697	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-27-1831-01	TCGA-27-1831-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000424789.2:c.1672A>G	p.Ile558Val	p.I558V	ENST00000424789	NM_025185.3	558	Att/Gtt	0	G:0.0003		1			G	I/V	uc002jal.3	protein_coding	YES	CCDS45754.1			1672/5973									ovary(2)	2	c.(1672-1674)ATT>GTT			hmmpanther:PTHR24166:SF21,hmmpanther:PTHR24166,Superfamily_domains:SSF52540	tetratricopeptide repeat, ankyrin repeat and			G:0	ENSP00000387593		25-Nov	8.28E-06	0.000103							rs372829353,COSM3403092,COSM3403093	25-Nov	.		ENST00000424789	Transcript					binding	ENSG00000170921	g.chr17:61428697A>G	30212			MODERATE		1.63	low	getma.org/?cm=msa&ty=f&p=TANC2_HUMAN&rb=53&re=818&var=I558V	NA	getma.org/?cm=var&var=hg19,17,61428697,A,G&fts=all	I558V	--	--	1																																		TANC2_uc010wpe.1_Missense_Mutation_p.I468V	0,1,1	1		benign(0.029)	p.I558V	NM_025185	NP_079461		tolerated(0.13)	0,1,1	TANC2_HUMAN	TANC2	HGNC	Q9HCD6	TANC2_HUMAN					11	1695	+			UPI00015D57DF	558					SNV	TANC2,missense_variant,p.Ile558Val,ENST00000424789,NM_025185.3;TANC2,missense_variant,p.Ile487Val,ENST00000583356,;TANC2,missense_variant,p.Ile558Val,ENST00000389520,;TANC2,upstream_gene_variant,,ENST00000583545,;	uc002jal.3	c.1672A>G	1676/11721	3	3			c.1672A>G						17	SNP	c.(1672-1674)ATT>GTT	2	2			ovary(2)	2	Broad	tetratricopeptide repeat, ankyrin repeat and			61428697		0.338	ENSG00000170921	15307	g.chr17:61428697A>G			binding							180.920726	KEEP	22	32	-1	41	51	22	32	-1	182.348161	41	51	0.391304	1	0	0	0	0	1	0	0	0	--	--		0	G			TANC2_uc010wpe.1_Missense_Mutation_p.I468V	190	GBM-27-1831-TP	p.I558V	A	TGGGGATACAATTGTATCGTT	NM_025185	NP_079461	61428697	Q9HCD6	TANC2_HUMAN	0			11	1695	+	G	G			Missense_Mutation	558						
TANC2	0	broad.mit.edu	GRCh37	17	61466072	61466072	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-2494-01	TCGA-32-2494-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000424789.2:c.2546C>G	p.Ser849Cys	p.S849C	ENST00000424789	NM_025185.3	849	tCc/tGc	0			1			G	S/C	uc002jal.3	protein_coding	YES	CCDS45754.1			2546/5973									ovary(2)	2	c.(2545-2547)TCC>TGC			hmmpanther:PTHR24166:SF21,hmmpanther:PTHR24166,SMART_domains:SM00248	tetratricopeptide repeat, ankyrin repeat and				ENSP00000387593		14/25									COSM3403094,COSM3403095	14/25	.		ENST00000424789	Transcript					binding	ENSG00000170921	g.chr17:61466072C>G	30212			MODERATE		2.295	medium	getma.org/?cm=msa&ty=f&p=TANC2_HUMAN&rb=819&re=857&var=S849C	NA	getma.org/?cm=var&var=hg19,17,61466072,C,G&fts=all	S849C	--	--	1																																		TANC2_uc010wpe.1_Missense_Mutation_p.S759C|TANC2_uc002jan.1_5'UTR|TANC2_uc002jao.3_5'Flank|TANC2_uc002jam.1_Missense_Mutation_p.S216C	1,1	1		possibly_damaging(0.601)	p.S849C	NM_025185	NP_079461		deleterious(0.04)	1,1	TANC2_HUMAN	TANC2	HGNC	Q9HCD6	TANC2_HUMAN					14	2569	+			UPI00015D57DF	849			ANK 1.		SNV	TANC2,missense_variant,p.Ser849Cys,ENST00000424789,NM_025185.3;TANC2,missense_variant,p.Ser778Cys,ENST00000583356,;TANC2,missense_variant,p.Ser849Cys,ENST00000389520,;AC015923.1,intron_variant,,ENST00000431604,;RP11-269G24.3,downstream_gene_variant,,ENST00000583552,;TANC2,non_coding_transcript_exon_variant,,ENST00000583545,;TANC2,non_coding_transcript_exon_variant,,ENST00000581143,;RP11-269G24.7,upstream_gene_variant,,ENST00000606610,;	uc002jal.3	c.2546C>G	2550/11721	3	3			c.2546C>G						17	SNP	c.(2545-2547)TCC>TGC	53	53			ovary(2)	2	Broad	tetratricopeptide repeat, ankyrin repeat and			61466072		0.323	ENSG00000170921	15307	g.chr17:61466072C>G			binding							2.127913	KEEP	0	2	-1	13	14	0	2	-1	6.892249	13	14	0.076923	1	0	0	0	0	1	0	0	0	--	--		0	G			TANC2_uc010wpe.1_Missense_Mutation_p.S759C|TANC2_uc002jan.1_5'UTR|TANC2_uc002jao.3_5'Flank|TANC2_uc002jam.1_Missense_Mutation_p.S216C	236	GBM-32-2494-TP	p.S849C	C	GAAGGTCTTTCCATGGCACTG	NM_025185	NP_079461	61466072	Q9HCD6	TANC2_HUMAN	0			14	2569	+	G	G			Missense_Mutation	849			ANK 1.			
TANGO6	0	broad.mit.edu	GRCh37	16	68893945	68893945	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-1034-01	TCGA-14-1034-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261778.1:c.253C>A	p.Gln85Lys	p.Q85K	ENST00000261778	NM_024562.1	85	Caa/Aaa	0			1			A	Q/K	uc002ewi.3	protein_coding	YES	CCDS45516.1			253/3285										0	c.(253-255)CAA>AAA			hmmpanther:PTHR20959,hmmpanther:PTHR20959:SF1	transmembrane and coiled-coil domains 7				ENSP00000261778		18-Feb									COSM3402439	18-Feb	.		ENST00000261778	Transcript				integral to membrane	binding	ENSG00000103047	g.chr16:68893945C>A	25749			MODERATE		1.25	low	getma.org/?cm=msa&ty=f&p=TMCO7_HUMAN&rb=1&re=200&var=Q85K	NA	getma.org/?cm=var&var=hg19,16,68893945,C,A&fts=all	Q85K	--	--	1																																		TMCO7_uc002ewh.2_Missense_Mutation_p.Q85K	1	1		benign(0.01)	p.Q85K	NM_024562	NP_078838		tolerated(0.23)	1	TNG6_HUMAN	TANGO6	HGNC	Q9C0B7	TMCO7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)	B3KTB6_HUMAN		2	265	+		Ovarian(137;0.0568)	UPI00001FF4A8	85					SNV	TANGO6,missense_variant,p.Gln85Lys,ENST00000261778,NM_024562.1;TANGO6,non_coding_transcript_exon_variant,,ENST00000564180,;TANGO6,upstream_gene_variant,,ENST00000561566,;	uc002ewi.3	c.253C>A	265/4816	1	1			c.253C>A						16	SNP	c.(253-255)CAA>AAA	52	52				0	Broad	transmembrane and coiled-coil domains 7			68893945		0.428	ENSG00000103047	15756	g.chr16:68893945C>A		integral to membrane	binding							-16.083566	KEEP	4	3	0.428571429	50	61	4	3	0.428571429	6.507222	50	61	0.048077	1	0	0	0	0	1	0	0	0	--	--		0	A			TMCO7_uc002ewh.2_Missense_Mutation_p.Q85K	142	GBM-14-1034-TP	p.Q85K	C	AGAATGGCCACAAAACTCTGT	NM_024562	NP_078838	68893945	Q9C0B7	TMCO7_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)	2	265	+	A	A		Ovarian(137;0.0568)	Missense_Mutation	85						
TAOK1	0	broad.mit.edu	GRCh37	17	27778581	27778593	+	frameshift_variant	Frame_Shift_Del	DEL	CAGAGCAGGCAGC	CAGAGCAGGCAGC	-			TCGA-28-5209-01	TCGA-28-5209-01	CAGAGCAGGCAGC	CAGAGCAGGCAGC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261716.3:c.16_28delAGAGCAGGCAGCC	p.Arg6Ter	p.R6*	ENST00000261716	NM_020791.2	5	aaCAGAGCAGGCAGC/aa	0			1			-	NRAGS/X	uc002hdz.1	protein_coding	YES	CCDS32601.1			15-27/3006									upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4	c.(13-27)AACAGAGCAGGCAGCfs			hmmpanther:PTHR24361:SF189,hmmpanther:PTHR24361	TAO kinase 1				ENSP00000261716		20-Feb										20-Feb	.		ENST00000261716	Transcript			mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	ENSG00000160551	g.chr17:27778581_27778593delCAGAGCAGGCAGC	29259	1		HIGH								--	--	1																																		TAOK1_uc010wbe.1_Frame_Shift_Del_p.N5fs|TAOK1_uc010wbf.1_Frame_Shift_Del_p.N5fs		1			p.N5fs	NM_020791	NP_065842				TAOK1_HUMAN	TAOK1	HGNC	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		J3QS76_HUMAN		2	209_221	+			UPI000004A033	5_9					deletion	TAOK1,frameshift_variant,p.Arg6Ter,ENST00000261716,NM_020791.2;TAOK1,frameshift_variant,p.Arg6Ter,ENST00000536202,NM_025142.1;TAOK1,frameshift_variant,p.Arg6Ter,ENST00000583121,;TAOK1,non_coding_transcript_exon_variant,,ENST00000587277,;	uc002hdz.1	c.15_27delCAGAGCAGGCAGC	534-546/12407	5	5			c.15_27delCAGAGCAGGCAGC						17	DEL	c.(13-27)AACAGAGCAGGCAGCfs	6	6			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Broad	TAO kinase 1			27778593		0.46	ENSG00000160551	15309	g.chr17:27778581_27778593delCAGAGCAGGCAGC	mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			290			290														0.35	1	1	0	1	0	0	0	0	0	--	--		0	-			TAOK1_uc010wbe.1_Frame_Shift_Del_p.N5fs|TAOK1_uc010wbf.1_Frame_Shift_Del_p.N5fs	218	GBM-28-5209-TP	p.N5fs	CAGAGCAGGCAGC	CATCAACTAACAGAGCAGGCAGCCTGAAGGACC	NM_020791	NP_065842	27778581	Q7L7X3	TAOK1_HUMAN	0	Colorectal(6;0.198)		2	209_221	+	-	-			Frame_Shift_Del	5_9						
TAOK2	9344		GRCh37	16	29990328	29990328	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000308893.4:c.386C>T	p.Ala129Val	p.A129V	ENST00000308893	NM_016151.3	129	gCa/gTa	0																																																																																																																																																																																																																																												
TAOK3	0	broad.mit.edu	GRCh37	12	118639103	118639103	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392533.3:c.985delG	p.Glu329LysfsTer9	p.E329Kfs*9	ENST00000392533	NM_016281.3	329	Gaa/aa	0			1			-	E/X	uc001twx.2	protein_coding	YES	CCDS9188.1			985/2697									lung(5)|central_nervous_system(1)	6	c.(985-987)GAAfs			hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF187	TAO kinase 3				ENSP00000376317		21-Dec										21-Dec	.		ENST00000392533	Transcript			MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	ENSG00000135090	g.chr12:118639103delC	18133			HIGH								--	--	1																																		TAOK3_uc001tww.2_Frame_Shift_Del_p.E159fs|TAOK3_uc001twy.3_Frame_Shift_Del_p.E329fs		1			p.E329fs	NM_016281	NP_057365				TAOK3_HUMAN	TAOK3	HGNC	Q9H2K8	TAOK3_HUMAN			G3V1Q8_HUMAN,F5H7G4_HUMAN,F5H5E0_HUMAN,F5H5C7_HUMAN,F5H3L7_HUMAN,F5H005_HUMAN,F5GY38_HUMAN,F5GX96_HUMAN,F5GWV8_HUMAN		12	1280	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		UPI000007231B	329					deletion	TAOK3,frameshift_variant,p.Glu329LysfsTer9,ENST00000392533,NM_016281.3;TAOK3,frameshift_variant,p.Glu329LysfsTer9,ENST00000419821,;TAOK3,downstream_gene_variant,,ENST00000538601,;TAOK3,splice_region_variant,,ENST00000537305,;TAOK3,non_coding_transcript_exon_variant,,ENST00000536584,;	uc001twx.2	c.985delG	1476/4384	5	5			c.985delG						12	DEL	c.(985-987)GAAfs	3	3			lung(5)|central_nervous_system(1)	6	Broad	TAO kinase 3			118639103		0.234	ENSG00000135090	15311	g.chr12:118639103delC	MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			500			500														0.21	1	1	0	1	0	0	0	0	0	--	--		0	-			TAOK3_uc001tww.2_Frame_Shift_Del_p.E159fs|TAOK3_uc001twy.3_Frame_Shift_Del_p.E329fs	229	GBM-32-1977-TP	p.E329fs	C	GAACCTACTTCCTCATCCTCC	NM_016281	NP_057365	118639103	Q9H2K8	TAOK3_HUMAN	0			12	1280	-	-	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		Frame_Shift_Del	329						
TAOK3	0	broad.mit.edu	GRCh37	12	118599775	118599775	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1986-01	TCGA-32-1986-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392533.3:c.1957G>A	p.Asp653Asn	p.D653N	ENST00000392533	NM_016281.3	653	Gac/Aac	0			1			T	D/N	uc001twx.2	protein_coding	YES	CCDS9188.1			1957/2697									lung(5)|central_nervous_system(1)	6	c.(1957-1959)GAC>AAC			hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF187	TAO kinase 3				ENSP00000376317		18/21									COSM3398414,COSM3398415	18/21	.		ENST00000392533	Transcript			MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	ENSG00000135090	g.chr12:118599775C>T	18133			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=TAOK3_HUMAN&rb=322&re=896&var=D653N	NA	getma.org/?cm=var&var=hg19,12,118599775,C,T&fts=all	D653N	--	--	1																																		TAOK3_uc001twv.2_Missense_Mutation_p.D193N|TAOK3_uc001tww.2_Missense_Mutation_p.D483N|TAOK3_uc001twy.3_Missense_Mutation_p.D653N	1,1	1		benign(0.11)	p.D653N	NM_016281	NP_057365		deleterious(0.02)	1,1	TAOK3_HUMAN	TAOK3	HGNC	Q9H2K8	TAOK3_HUMAN			G3V1Q8_HUMAN,F5H7G4_HUMAN,F5H5E0_HUMAN,F5H5C7_HUMAN,F5H3L7_HUMAN,F5H005_HUMAN,F5GY38_HUMAN,F5GX96_HUMAN,F5GWV8_HUMAN		18	2252	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		UPI000007231B	653					SNV	TAOK3,missense_variant,p.Asp653Asn,ENST00000392533,NM_016281.3;TAOK3,missense_variant,p.Asp653Asn,ENST00000419821,;TAOK3,missense_variant,p.Asp193Asn,ENST00000537952,;AC026366.1,upstream_gene_variant,,ENST00000408353,;TAOK3,upstream_gene_variant,,ENST00000543709,;TAOK3,non_coding_transcript_exon_variant,,ENST00000537305,;TAOK3,upstream_gene_variant,,ENST00000537569,;	uc001twx.2	c.1957G>A	2448/4384	2	2			c.1957G>A						12	SNP	c.(1957-1959)GAC>AAC	21	21			lung(5)|central_nervous_system(1)	6	Broad	TAO kinase 3			118599775		0.507	ENSG00000135090	15311	g.chr12:118599775C>T	MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			500			500	126.04287	KEEP	26	28	-1	75	80	26	28	-1	135.508967	75	80	0.259669	1	0	0	0	0	1	0	0	0	--	--		0	T			TAOK3_uc001twv.2_Missense_Mutation_p.D193N|TAOK3_uc001tww.2_Missense_Mutation_p.D483N|TAOK3_uc001twy.3_Missense_Mutation_p.D653N	233	GBM-32-1986-TP	p.D653N	C	GTGGACTCGTCGTGCCGGATT	NM_016281	NP_057365	118599775	Q9H2K8	TAOK3_HUMAN	0			18	2252	-	T	T	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		Missense_Mutation	653						
TAP2	0	broad.mit.edu	GRCh37	6	32803482	32803482	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01	TCGA-27-2526-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374897.2:c.677G>A	p.Arg226Gln	p.R226Q	ENST00000374897	NM_000544.3	226	cGg/cAg	0			1			T	R/Q	uc003occ.2	protein_coding					677/2061										0	c.(676-678)CGG>CAG			Gene3D:2hydA01,Pfam_domain:PF00664,PROSITE_profiles:PS50929,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF160,Superfamily_domains:SSF90123,TIGRFAM_domain:TIGR00958	transporter 2, ATP-binding cassette, sub-family				ENSP00000364032		12-Apr									rs371802164,COSM3410991,COSM3410990	12-Apr	.		ENST00000374897	Transcript	1		antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	ENSG00000204267	g.chr6:32803482C>T	44			MODERATE		2.515	medium	getma.org/?cm=msa&ty=f&p=TAP2_HUMAN&rb=152&re=423&var=R226Q	getma.org/pdb.php?prot=TAP2_HUMAN&from=152&to=423&var=R226Q	getma.org/?cm=var&var=hg19,6,32803482,C,T&fts=all	R226Q	--	--	1																																		TAP2_uc011dqf.1_Missense_Mutation_p.R226Q|TAP2_uc003ocb.1_Missense_Mutation_p.R226Q|TAP2_uc003ocd.2_Missense_Mutation_p.R226Q	0,1,1			benign(0.354)	p.R226Q	NM_018833	NP_061313		deleterious(0.02)	0,1,1	TAP2_HUMAN	TAP2	HGNC	Q03519	TAP2_HUMAN			Q5JNW1_HUMAN,B6VNV2_HUMAN		3	708	-			UPI000011D578	226			Cytoplasmic (Potential).|ABC transmembrane type-1.		SNV	TAP2,missense_variant,p.Arg226Gln,ENST00000374897,NM_000544.3;TAP2,missense_variant,p.Arg226Gln,ENST00000452392,;TAP2,missense_variant,p.Arg226Gln,ENST00000374899,NM_018833.2;TAP2,upstream_gene_variant,,ENST00000485701,;TAP2,upstream_gene_variant,,ENST00000464100,;	uc003occ.2	c.677G>A	809/5684	2	2			c.677G>A						6	SNP	c.(676-678)CGG>CAG	29	29				0	Broad	transporter 2, ATP-binding cassette, sub-family			32803482		0.582	ENSG00000204267	15313	g.chr6:32803482C>T	antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding							-17.954521	KEEP	0	3	-1	56	50	0	3	-1	6.569881	56	50	0.029703	1	0	0	0	0	1	0	0	0	--	--		0	T			TAP2_uc011dqf.1_Missense_Mutation_p.R226Q|TAP2_uc003ocb.1_Missense_Mutation_p.R226Q|TAP2_uc003ocd.2_Missense_Mutation_p.R226Q	203	GBM-27-2526-TP	p.R226Q	C	AAGCTGCTCCCGGATCCGCAA	NM_018833	NP_061313	32803482	Q03519	TAP2_HUMAN	0			3	708	-	T	T			Missense_Mutation	226			Cytoplasmic (Potential).|ABC transmembrane type-1.			
TAP2	0	broad.mit.edu	GRCh37	6	32782892	32782892	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2499-01	TCGA-28-2499-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000438763.2:c.290G>A	p.Ser97Asn	p.S97N	ENST00000438763	NM_002120.3	97	aGc/aAc	0			1			T	S/N	uc011dqf.1	protein_coding	YES				2111/2531										0	c.(2110-2112)AGC>AAC			Gene3D:3.10.320.10,Pfam_domain:PF00969,PROSITE_profiles:PS50893,SMART_domains:SM00382,SMART_domains:SM00921,Superfamily_domains:SSF54452	transporter 2, ATP-binding cassette, sub-family				ENSP00000391806		13/15									COSM3410986,COSM3410987	13/15	.		ENST00000452392	Transcript			antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	ENSG00000250264	g.chr6:32782892C>T	44			MODERATE		1.185	low	getma.org/?cm=msa&ty=f&p=DOB_HUMAN&rb=39&re=113&var=S97N	getma.org/pdb.php?prot=DOB_HUMAN&from=39&to=113&var=S97N	getma.org/?cm=var&var=hg19,6,32782892,C,T&fts=all	S97N	--	--	1																																		HLA-DOB_uc003oca.2_Missense_Mutation_p.S97N|HLA-DOB_uc011dqg.1_Missense_Mutation_p.S97N	1,1			probably_damaging(0.996)	p.S704N	NM_018833	NP_061313		deleterious_low_confidence(0)	1,1		TAP2	Uniprot_gn	Q03519	TAP2_HUMAN			E7ENX8_HUMAN,B6VNV2_HUMAN		13	2233	-			UPI0001D3B9BA	Error:Variant_position_missing_in_Q03519_after_alignment					SNV	TAP2,missense_variant,p.Ser704Asn,ENST00000452392,;HLA-DOB,missense_variant,p.Ser97Asn,ENST00000438763,NM_002120.3;HLA-DOB,missense_variant,p.Ser84Asn,ENST00000447394,;HLA-DOB,3_prime_UTR_variant,,ENST00000488325,;HLA-DOB,non_coding_transcript_exon_variant,,ENST00000475235,;	uc011dqf.1	c.2111G>A	2285/2705	1	1			c.2111G>A						6	SNP	c.(2110-2112)AGC>AAC	4	4				0	Broad	transporter 2, ATP-binding cassette, sub-family			32782892		0.592	ENSG00000250264	15313	g.chr6:32782892C>T	antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding							120.292409	KEEP	22	21	-1	18	26	22	21	-1	120.292409	18	26	0.5	1	0	0	0	0	1	0	0	0	--	--		0	T			HLA-DOB_uc003oca.2_Missense_Mutation_p.S97N|HLA-DOB_uc011dqg.1_Missense_Mutation_p.S97N	208	GBM-28-2499-TP	p.S704N	C	GGCCTGTCTGCTCCTCTCCAA	NM_018833	NP_061313	32782892	Q03519	TAP2_HUMAN	0			13	2233	-	T	T			Missense_Mutation	Error:Variant_position_missing_in_Q03519_after_alignment						
TAP2	0	broad.mit.edu	GRCh37	6	32797852	32797852	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2495-01	TCGA-32-2495-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374897.2:c.1650G>A	p.Gly550=	p.G550=	ENST00000374897	NM_000544.3	550	ggG/ggA	0			1			T	G	uc003occ.2	protein_coding					1650/2061										0	c.(1648-1650)GGG>GGA			Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_profiles:PS50893,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF160,SMART_domains:SM00382,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00958	transporter 2, ATP-binding cassette, sub-family				ENSP00000364032		12-Oct									COSM3410989,COSM3410988	12-Oct	.		ENST00000374897	Transcript	1		antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	ENSG00000204267	g.chr6:32797852C>T	44			LOW								--	--	1																																		TAP2_uc011dqf.1_Silent_p.G550G|TAP2_uc003ocb.1_Silent_p.G550G|TAP2_uc003ocd.2_Silent_p.G550G	1,1				p.G550G	NM_018833	NP_061313			1,1	TAP2_HUMAN	TAP2	HGNC	Q03519	TAP2_HUMAN			Q5JNW1_HUMAN,B6VNV2_HUMAN		9	1681	-			UPI000011D578	550			ABC transporter.|Cytoplasmic (Potential).		SNV	TAP2,synonymous_variant,p.=,ENST00000374897,NM_000544.3;TAP2,synonymous_variant,p.=,ENST00000452392,;TAP2,synonymous_variant,p.=,ENST00000374899,NM_018833.2;TAP2,downstream_gene_variant,,ENST00000485701,;TAP2,non_coding_transcript_exon_variant,,ENST00000464100,;	uc003occ.2	c.1650G>A	1782/5684	1	1			c.1650G>A						6	SNP	c.(1648-1650)GGG>GGA	1	1				0	Broad	transporter 2, ATP-binding cassette, sub-family			32797852		0.587	ENSG00000204267	15313	g.chr6:32797852C>T	antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding							116.435134	KEEP	19	34	-1	63	70	19	34	-1	122.988028	63	70	0.28481	1	0	0	0	0	0	0	1	0	--	--		0	T			TAP2_uc011dqf.1_Silent_p.G550G|TAP2_uc003ocb.1_Silent_p.G550G|TAP2_uc003ocd.2_Silent_p.G550G	237	GBM-32-2495-TP	p.G550G	C	CAGGCTCCTGCCCAACTGAAA	NM_018833	NP_061313	32797852	Q03519	TAP2_HUMAN	0			9	1681	-	T	T			Silent	550			ABC transporter.|Cytoplasmic (Potential).			
TAP2	0	broad.mit.edu	GRCh37	6	32782142	32782142	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-41-5651-01	TCGA-41-5651-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000438763.2:c.598C>G	p.Leu200Val	p.L200V	ENST00000438763	NM_002120.3	200	Ctt/Gtt	0			1			C	L/V	uc011dqf.1	protein_coding	YES				2419/2531										0	c.(2419-2421)CTT>GTT			Gene3D:2.60.40.10,Pfam_domain:PF07654,PROSITE_patterns:PS00290,PROSITE_profiles:PS50835,SMART_domains:SM00407,Superfamily_domains:SSF48726	transporter 2, ATP-binding cassette, sub-family				ENSP00000391806		14/15									COSM3410985	14/15	.		ENST00000452392	Transcript			antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	ENSG00000250264	g.chr6:32782142G>C	44			MODERATE		0.46	neutral	getma.org/?cm=msa&ty=f&p=DOB_HUMAN&rb=129&re=220&var=L200V	getma.org/pdb.php?prot=DOB_HUMAN&from=129&to=220&var=L200V	getma.org/?cm=var&var=hg19,6,32782142,G,C&fts=all	L200V	--	--	1																																		HLA-DOB_uc003oca.2_Missense_Mutation_p.L200V|HLA-DOB_uc011dqg.1_Missense_Mutation_p.L200V	1			possibly_damaging(0.475)	p.L807V	NM_018833	NP_061313		tolerated_low_confidence(0.2)	1		TAP2	Uniprot_gn	Q03519	TAP2_HUMAN			E7ENX8_HUMAN,B6VNV2_HUMAN		14	2541	-			UPI0001D3B9BA	Error:Variant_position_missing_in_Q03519_after_alignment					SNV	TAP2,missense_variant,p.Leu807Val,ENST00000452392,;HLA-DOB,missense_variant,p.Leu200Val,ENST00000438763,NM_002120.3;HLA-DOB,downstream_gene_variant,,ENST00000447394,;HLA-DOB,3_prime_UTR_variant,,ENST00000488325,;HLA-DOB,non_coding_transcript_exon_variant,,ENST00000475235,;	uc011dqf.1	c.2419C>G	2593/2705	4	4			c.2419C>G						6	SNP	c.(2419-2421)CTT>GTT	46	46				0	Broad	transporter 2, ATP-binding cassette, sub-family			32782142		0.502	ENSG00000250264	15313	g.chr6:32782142G>C	antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding							87.953903	KEEP	12	18	-1	17	26	12	18	-1	88.08469	17	26	0.451613	1	0	0	0	0	1	0	0	0	--	--		0	C			HLA-DOB_uc003oca.2_Missense_Mutation_p.L200V|HLA-DOB_uc011dqg.1_Missense_Mutation_p.L200V	258	GBM-41-5651-TP	p.L807V	G	TGATCGACAAGGCAGGTGTAG	NM_018833	NP_061313	32782142	Q03519	TAP2_HUMAN	0			14	2541	-	C	C			Missense_Mutation	Error:Variant_position_missing_in_Q03519_after_alignment						
TAP2	6891		GRCh37	6	32798068	32798068	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000374899.4:c.1611T>C	p.Tyr537=	p.Y537=	ENST00000374899	NM_018833.2	537	taT/taC	0																																																																																																																																																																																																																																												
TAPT1	0	broad.mit.edu	GRCh37	4	16204132	16204132	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-32-4719-01	TCGA-32-4719-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000405303.2:c.402T>C	p.Val134=	p.V134=	ENST00000405303	NM_153365.2	134	gtT/gtC	0			1			G	V	uc010ied.1	protein_coding	YES	CCDS47030.1			402/1704										0	c.(400-402)GTT>GTC			Transmembrane_helices:TMhelix,hmmpanther:PTHR13317,hmmpanther:PTHR13317:SF4	transmembrane anterior posterior transformation				ENSP00000385347		14-Mar									COSM3409140	14-Mar	.		ENST00000405303	Transcript				integral to membrane	growth hormone-releasing hormone receptor activity	ENSG00000169762	g.chr4:16204132A>G	26887			LOW								--	--	1																																		TAPT1_uc011bxe.1_Silent_p.V23V|TAPT1_uc003gow.3_Intron	1	1			p.V134V	NM_153365	NP_699196			1	TAPT1_HUMAN	TAPT1	HGNC	Q6NXT6	TAPT1_HUMAN			B4DJJ3_HUMAN		3	483	-			UPI0000253B29	134					SNV	TAPT1,synonymous_variant,p.=,ENST00000405303,NM_153365.2;TAPT1,synonymous_variant,p.=,ENST00000399920,;TAPT1,non_coding_transcript_exon_variant,,ENST00000508888,;TAPT1,non_coding_transcript_exon_variant,,ENST00000513359,;TAPT1,non_coding_transcript_exon_variant,,ENST00000505152,;TAPT1,non_coding_transcript_exon_variant,,ENST00000510868,;TAPT1,downstream_gene_variant,,ENST00000511156,;TAPT1,missense_variant,p.Phe91Leu,ENST00000505603,;TAPT1,synonymous_variant,p.=,ENST00000513833,;TAPT1,intron_variant,,ENST00000505317,;	uc010ied.1	c.402T>C	486/4591	3	3			c.402T>C						4	SNP	c.(400-402)GTT>GTC	16	16				0	Broad	transmembrane anterior posterior transformation			16204132		0.353	ENSG00000169762	15316	g.chr4:16204132A>G		integral to membrane	growth hormone-releasing hormone receptor activity							6.849202	KEEP	0	3	-1	2	1	0	3	-1	6.892877	2	1	0.4	1	0	0	0	0	0	0	1	0	--	--		0	G			TAPT1_uc011bxe.1_Silent_p.V23V|TAPT1_uc003gow.3_Intron	248	GBM-32-4719-TP	p.V134V	A	GTGCCAGGAAAACTCTTAAAG	NM_153365	NP_699196	16204132	Q6NXT6	TAPT1_HUMAN	0			3	483	-	G	G			Silent	134						
TARS	6897	broad.mit.edu	GRCh37	5	33461376	33461376	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0157-01	TCGA-06-0157-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000455217.2:c.1626C>G	p.Ile542Met	p.I542M	ENST00000455217	NM_001258438.1	542	atC/atG	0			1			G	I/M	uc003jhy.2	protein_coding		CCDS3899.1			1527/2172									ovary(2)	2	c.(1525-1527)ATC>ATG			Superfamily_domains:SSF55681,Gene3D:3.30.930.10,TIGRFAM_domain:TIGR00418,Pfam_domain:PF00587,hmmpanther:PTHR11451,hmmpanther:PTHR11451:SF23,PROSITE_profiles:PS50862,HAMAP:MF_00184	threonyl-tRNA synthetase	L-Threonine(DB00156)			ENSP00000265112		13/19									COSM2150040	13/19	.		ENST00000265112	Transcript			threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	ENSG00000113407	g.chr5:33461376C>G	11572			MODERATE		3.89	high	getma.org/?cm=msa&ty=f&p=SYTC_HUMAN&rb=352&re=516&var=I509M	getma.org/pdb.php?prot=SYTC_HUMAN&from=352&to=516&var=I509M	getma.org/?cm=var&var=hg19,5,33461376,C,G&fts=all	I509M	--	--	1																																		TARS_uc011cob.1_Missense_Mutation_p.I497M|TARS_uc010iup.1_Missense_Mutation_p.I450M|TARS_uc011coc.1_Missense_Mutation_p.I530M|TARS_uc003jhz.2_Missense_Mutation_p.I405M|TARS_uc011cod.1_Missense_Mutation_p.I388M	1			benign(0.069)	p.I509M	NM_152295	NP_689508		deleterious(0.02)	1	SYTC_HUMAN	TARS	HGNC	P26639	SYTC_HUMAN			D6RBR8_HUMAN,D6R9F8_HUMAN		13	1822	+			UPI00001BD8D0	509					SNV	TARS,missense_variant,p.Ile509Met,ENST00000265112,NM_152295.4;TARS,missense_variant,p.Ile509Met,ENST00000502553,NM_001258437.1;TARS,missense_variant,p.Ile542Met,ENST00000455217,NM_001258438.1;TARS,missense_variant,p.Ile388Met,ENST00000414361,;TARS,missense_variant,p.Ile405Met,ENST00000541634,;TARS,non_coding_transcript_exon_variant,,ENST00000509410,;TARS,3_prime_UTR_variant,,ENST00000508361,;TARS,3_prime_UTR_variant,,ENST00000507716,;TARS,3_prime_UTR_variant,,ENST00000509731,;TARS,downstream_gene_variant,,ENST00000504698,;	uc003jhy.2	c.1527C>G	1838/4314	3	3			c.1527C>G						5	SNP	c.(1525-1527)ATC>ATG	62	62			ovary(2)	2	Broad	threonyl-tRNA synthetase		L-Threonine(DB00156)	33461376		0.373	ENSG00000113407	15321	g.chr5:33461376C>G	threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity							303.791072	KEEP	44	49	-1	70	38	44	49	-1	304.070139	70	38	0.457143	1	0	0	0	0	1	0	0	0	--	--		0	G			TARS_uc011cob.1_Missense_Mutation_p.I497M|TARS_uc010iup.1_Missense_Mutation_p.I450M|TARS_uc011coc.1_Missense_Mutation_p.I530M|TARS_uc003jhz.2_Missense_Mutation_p.I405M|TARS_uc011cod.1_Missense_Mutation_p.I388M	28	GBM-06-0157-TP	p.I509M	C	TTGGAGATATCGAAGTATGGG	NM_152295	NP_689508	33461376	P26639	SYTC_HUMAN	0			13	1822	+	G	G			Missense_Mutation	509						
TARS2	0	broad.mit.edu	GRCh37	1	150471051	150471051	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01	TCGA-32-2634-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369064.3:c.1312C>T	p.Arg438Trp	p.R438W	ENST00000369064	NM_025150.4	438	Cgg/Tgg	0	T:0.0002	T:0.0008	1	T:0		T	R/W	uc001euq.2	protein_coding	YES	CCDS952.1			1312/2157									ovary(1)	1	c.(1312-1314)CGG>TGG			PROSITE_profiles:PS50862,HAMAP:MF_00184,hmmpanther:PTHR11451:SF13,hmmpanther:PTHR11451,TIGRFAM_domain:TIGR00418,Pfam_domain:PF00587,Gene3D:3.30.930.10,Superfamily_domains:SSF55681,Prints_domain:PR01047	threonyl-tRNA synthetase 2, mitochondrial	L-Threonine(DB00156)	T:0	T:0	ENSP00000358060	T:0	18-Nov	4.12E-05	0.00029						6.07E-05	rs201039460,COSM3399688	18-Nov	.		ENST00000369064	Transcript	1	T:0.0002	threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	ENSG00000143374	g.chr1:150471051C>T	30740			MODERATE		4.21	high	getma.org/?cm=msa&ty=f&p=SYTM_HUMAN&rb=331&re=512&var=R438W	getma.org/pdb.php?prot=SYTM_HUMAN&from=331&to=512&var=R438W	getma.org/?cm=var&var=hg19,1,150471051,C,T&fts=all	R438W	--	--	1																																		TARS2_uc010pcd.1_RNA|TARS2_uc001eur.2_Missense_Mutation_p.R356W|TARS2_uc009wlt.2_Missense_Mutation_p.R64W|TARS2_uc009wls.2_Missense_Mutation_p.R308W	0,1	1		probably_damaging(1)	p.R438W	NM_025150	NP_079426	T:0	deleterious(0)	0,1	SYTM_HUMAN	TARS2	HGNC	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		Q9H045_HUMAN		11	1319	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UPI00000492D1	438					SNV	TARS2,missense_variant,p.Arg438Trp,ENST00000369064,NM_025150.4;TARS2,missense_variant,p.Arg356Trp,ENST00000606933,NM_001271895.1;TARS2,missense_variant,p.Arg308Trp,ENST00000369054,NM_001271896.1;TARS2,3_prime_UTR_variant,,ENST00000438568,;TARS2,non_coding_transcript_exon_variant,,ENST00000463555,;TARS2,non_coding_transcript_exon_variant,,ENST00000480070,;TARS2,3_prime_UTR_variant,,ENST00000369051,;TARS2,3_prime_UTR_variant,,ENST00000467982,;TARS2,downstream_gene_variant,,ENST00000462578,;TARS2,downstream_gene_variant,,ENST00000460794,;	uc001euq.2	c.1312C>T	1346/2729	1	1			c.1312C>T						1	SNP	c.(1312-1314)CGG>TGG	8	8			ovary(1)	1	Broad	threonyl-tRNA synthetase 2, mitochondrial		L-Threonine(DB00156)	150471051		0.632	ENSG00000143374	15322	g.chr1:150471051C>T	threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity							-25.218382	KEEP	1	3	-1	78	67	1	3	-1	7.593915	78	67	0.02963	1	0	0	0	0	1	0	0	0	--	--		0	T			TARS2_uc010pcd.1_RNA|TARS2_uc001eur.2_Missense_Mutation_p.R356W|TARS2_uc009wlt.2_Missense_Mutation_p.R64W|TARS2_uc009wls.2_Missense_Mutation_p.R308W	241	GBM-32-2634-TP	p.R438W	C	GGCTCTACACCGGGCCGAAGC	NM_025150	NP_079426	150471051	Q9BW92	SYTM_HUMAN	0	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		11	1319	+	T	T	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		Missense_Mutation	438						
TAS1R1	80835	broad.mit.edu	GRCh37	1	6638981	6638982	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0174-01	TCGA-06-0174-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333172.6:c.1865dup	p.Phe623LeufsTer85	p.F623Lfs*85	ENST00000333172	NM_138697.3	621	-/T	0			1			T	-/X	uc001ant.2	protein_coding	YES	CCDS81.1			1863-1864/2526									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(1861-1866)GGCTTCfs			Pfam_domain:PF00003,PROSITE_profiles:PS50259,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF421,Transmembrane_helices:TMhelix	sweet taste receptor T1r isoform b				ENSP00000331867		6-Jun	0.00131	0.00151	0.000174	0.000583	0.00461	0.00129	0.00703	0.000125	rs374006227	6-Jun	common_variant		ENST00000333172	Transcript			sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	ENSG00000173662	g.chr1:6638981_6638982insT	14448	2		HIGH								--	--	1																																		TAS1R1_uc001anu.2_Frame_Shift_Ins_p.G367fs|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_3'UTR|ZBTB48_uc009vmc.1_5'Flank|ZBTB48_uc001anx.2_5'Flank|ZBTB48_uc009vmd.1_5'Flank		1			p.G621fs	NM_138697	NP_619642				TS1R1_HUMAN	TAS1R1	HGNC	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)			6	1863_1864	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	UPI000004737B	621_622			Helical; Name=2; (Potential).		insertion	TAS1R1,frameshift_variant,p.Phe623LeufsTer85,ENST00000333172,NM_138697.3;TAS1R1,frameshift_variant,p.Phe369LeufsTer85,ENST00000351136,NM_177540.2;TAS1R1,3_prime_UTR_variant,,ENST00000328191,;TAS1R1,3_prime_UTR_variant,,ENST00000411823,;TAS1R1,intron_variant,,ENST00000415267,;ZBTB48,upstream_gene_variant,,ENST00000377674,NM_001278648.1,NM_001278647.1,NM_005341.3;ZBTB48,upstream_gene_variant,,ENST00000319084,;ZBTB48,upstream_gene_variant,,ENST00000435905,;ZBTB48,upstream_gene_variant,,ENST00000488936,;	uc001ant.2	c.1863_1864insT	2056-2057/2892	5	5			c.1863_1864insT						1	INS	c.(1861-1866)GGCTTCfs	3	3			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	sweet taste receptor T1r isoform b			6638982		0.599	ENSG00000173662	15324	g.chr1:6638981_6638982insT	sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity																				0.07	1	0	0	1	1	0	0	0	0	--	--		0	T			TAS1R1_uc001anu.2_Frame_Shift_Ins_p.G367fs|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_3'UTR|ZBTB48_uc009vmc.1_5'Flank|ZBTB48_uc001anx.2_5'Flank|ZBTB48_uc009vmd.1_5'Flank	37	GBM-06-0174-TP	p.G621fs	-	GCCTCTATGGCTTCTTTGGGGA	NM_138697	NP_619642	6638981	Q7RTX1	TS1R1_HUMAN	0		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	6	1863_1864	+	T	T	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	Frame_Shift_Ins	621_622			Helical; Name=2; (Potential).			
TAS1R1	0	broad.mit.edu	GRCh37	1	6631015	6631015	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01	TCGA-19-2623-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333172.6:c.238C>T	p.Arg80Trp	p.R80W	ENST00000333172	NM_138697.3	80	Cgg/Tgg	0	T:0.0002	T:0	1	T:0.0014		T	R/W	uc001ant.2	protein_coding	YES	CCDS81.1			238/2526									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(238-240)CGG>TGG			Gene3D:3.40.50.2300,Pfam_domain:PF01094,Prints_domain:PR00248,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF421,Superfamily_domains:SSF53822	sweet taste receptor T1r isoform b		T:0	T:0	ENSP00000331867	T:0	6-Feb	6.59E-05	9.65E-05	8.66E-05			3.05E-05		0.000294	rs199550568,COSM3400958	6-Feb	.		ENST00000333172	Transcript		T:0.0004	sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	ENSG00000173662	g.chr1:6631015C>T	14448			MODERATE		2.73	medium	getma.org/?cm=msa&ty=f&p=TS1R1_HUMAN&rb=74&re=457&var=R80W	getma.org/pdb.php?prot=TS1R1_HUMAN&from=74&to=457&var=R80W	getma.org/?cm=var&var=hg19,1,6631015,C,T&fts=all	R80W	--	--	1																																		TAS1R1_uc001anu.2_Missense_Mutation_p.R80W|TAS1R1_uc001anv.2_Missense_Mutation_p.R80W|TAS1R1_uc001anw.2_Missense_Mutation_p.R80W	0,1	1		probably_damaging(0.998)	p.R80W	NM_138697	NP_619642	T:0.001	deleterious(0)	0,1	TS1R1_HUMAN	TAS1R1	HGNC	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)			2	238	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	UPI000004737B	80			Extracellular (Potential).		SNV	TAS1R1,missense_variant,p.Arg80Trp,ENST00000333172,NM_138697.3;TAS1R1,missense_variant,p.Arg80Trp,ENST00000328191,;TAS1R1,missense_variant,p.Arg80Trp,ENST00000351136,NM_177540.2;TAS1R1,missense_variant,p.Arg6Trp,ENST00000411823,;TAS1R1,missense_variant,p.Arg6Trp,ENST00000415267,;	uc001ant.2	c.238C>T	431/2892	2	2			c.238C>T						1	SNP	c.(238-240)CGG>TGG	28	28			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	sweet taste receptor T1r isoform b			6631015		0.532	ENSG00000173662	15324	g.chr1:6631015C>T	sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity							-44.568515	KEEP	3	1	-1	115	106	3	1	-1	6.537289	115	106	0.020202	1	0	0	0	0	1	0	0	0	--	--		0	T			TAS1R1_uc001anu.2_Missense_Mutation_p.R80W|TAS1R1_uc001anv.2_Missense_Mutation_p.R80W|TAS1R1_uc001anw.2_Missense_Mutation_p.R80W	163	GBM-19-2623-TP	p.R80W	C	CCAGGCTATGCGGCTTGGGGT	NM_138697	NP_619642	6631015	Q7RTX1	TS1R1_HUMAN	0		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	2	238	+	T	T	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	Missense_Mutation	80			Extracellular (Potential).			
TAS1R1	0	broad.mit.edu	GRCh37	1	6639227	6639227	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-27-2524-01	TCGA-27-2524-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333172.6:c.2109A>G	p.Pro703=	p.P703=	ENST00000333172	NM_138697.3	703	ccA/ccG	0			1			G	P	uc001ant.2	protein_coding	YES	CCDS81.1			2109/2526									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(2107-2109)CCA>CCG			Pfam_domain:PF00003,PROSITE_profiles:PS50259,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF421	sweet taste receptor T1r isoform b				ENSP00000331867		6-Jun									COSM3400960	6-Jun	.		ENST00000333172	Transcript			sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	ENSG00000173662	g.chr1:6639227A>G	14448			LOW								--	--	1																																		TAS1R1_uc001anu.2_Silent_p.P449P|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_3'UTR|ZBTB48_uc009vmc.1_5'Flank|ZBTB48_uc001anx.2_5'Flank|ZBTB48_uc009vmd.1_5'Flank	1	1			p.P703P	NM_138697	NP_619642			1	TS1R1_HUMAN	TAS1R1	HGNC	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)			6	2109	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	UPI000004737B	703			Extracellular (Potential).		SNV	TAS1R1,synonymous_variant,p.=,ENST00000333172,NM_138697.3;TAS1R1,synonymous_variant,p.=,ENST00000351136,NM_177540.2;TAS1R1,3_prime_UTR_variant,,ENST00000328191,;TAS1R1,3_prime_UTR_variant,,ENST00000411823,;TAS1R1,intron_variant,,ENST00000415267,;ZBTB48,upstream_gene_variant,,ENST00000377674,NM_001278648.1,NM_001278647.1,NM_005341.3;ZBTB48,upstream_gene_variant,,ENST00000319084,;ZBTB48,upstream_gene_variant,,ENST00000435905,;ZBTB48,upstream_gene_variant,,ENST00000488936,;	uc001ant.2	c.2109A>G	2302/2892	3	3			c.2109A>G						1	SNP	c.(2107-2109)CCA>CCG	1	1			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	sweet taste receptor T1r isoform b			6639227		0.577	ENSG00000173662	15324	g.chr1:6639227A>G	sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity							5.671809	KEEP	4	3	-1	28	42	4	3	-1	16.622706	28	42	0.101449	1	0	0	0	0	0	0	1	0	--	--		0	G			TAS1R1_uc001anu.2_Silent_p.P449P|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_3'UTR|ZBTB48_uc009vmc.1_5'Flank|ZBTB48_uc001anx.2_5'Flank|ZBTB48_uc009vmd.1_5'Flank	202	GBM-27-2524-TP	p.P703P	A	TGTGGACCCCACTGCCTGCTA	NM_138697	NP_619642	6639227	Q7RTX1	TS1R1_HUMAN	0		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	6	2109	+	G	G	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	Silent	703			Extracellular (Potential).			
TAS1R1	0	broad.mit.edu	GRCh37	1	6634905	6634905	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333172.6:c.713G>A	p.Cys238Tyr	p.C238Y	ENST00000333172	NM_138697.3	238	tGc/tAc	0			1			A	C/Y	uc001ant.2	protein_coding	YES	CCDS81.1			713/2526									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(712-714)TGC>TAC			Gene3D:3.40.50.2300,Pfam_domain:PF01094,Prints_domain:PR00592,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF421,Superfamily_domains:SSF53822	sweet taste receptor T1r isoform b				ENSP00000331867		6-Mar									COSM3400959	6-Mar	.		ENST00000333172	Transcript			sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	ENSG00000173662	g.chr1:6634905G>A	14448			MODERATE		3.595	high	getma.org/?cm=msa&ty=f&p=TS1R1_HUMAN&rb=74&re=457&var=C238Y	getma.org/pdb.php?prot=TS1R1_HUMAN&from=74&to=457&var=C238Y	getma.org/?cm=var&var=hg19,1,6634905,G,A&fts=all	C238Y	--	--	1																																		TAS1R1_uc001anu.2_Intron|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_Missense_Mutation_p.C238Y	1	1		probably_damaging(1)	p.C238Y	NM_138697	NP_619642		deleterious(0)	1	TS1R1_HUMAN	TAS1R1	HGNC	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)			3	713	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	UPI000004737B	238			Extracellular (Potential).		SNV	TAS1R1,missense_variant,p.Cys238Tyr,ENST00000333172,NM_138697.3;TAS1R1,missense_variant,p.Cys238Tyr,ENST00000328191,;TAS1R1,missense_variant,p.Cys164Tyr,ENST00000411823,;TAS1R1,intron_variant,,ENST00000351136,NM_177540.2;TAS1R1,intron_variant,,ENST00000415267,;	uc001ant.2	c.713G>A	906/2892	2	2			c.713G>A						1	SNP	c.(712-714)TGC>TAC	24	24			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	sweet taste receptor T1r isoform b			6634905		0.622	ENSG00000173662	15324	g.chr1:6634905G>A	sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity							115.775254	KEEP	26	28	-1	71	83	26	28	-1	125.876499	71	83	0.257895	1	0	0	0	0	1	0	0	0	--	--		0	A			TAS1R1_uc001anu.2_Intron|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_Missense_Mutation_p.C238Y	220	GBM-28-5213-TP	p.C238Y	G	CAGGGGATCTGCATTGCTTTC	NM_138697	NP_619642	6634905	Q7RTX1	TS1R1_HUMAN	0		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	3	713	+	A	A	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	Missense_Mutation	238			Extracellular (Potential).			
TAS1R2	80834	broad.mit.edu	GRCh37	1	19166593	19166593	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01	TCGA-06-0645-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375371.3:c.2020C>T	p.Arg674Cys	p.R674C	ENST00000375371	NM_152232.2	674	Cgc/Tgc	0		A:0	1	A:0		A	R/C	uc001bba.1	protein_coding	YES	CCDS187.1			2020/2520									skin(2)|ovary(1)|central_nervous_system(1)	4	c.(2020-2022)CGC>TGC			Pfam_domain:PF00003,PROSITE_profiles:PS50259,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF3	taste receptor, type 1, member 2 precursor	Aspartame(DB00168)	A:0.003		ENSP00000364520	A:0	6-Jun	5.77E-05			0.000231		7.49E-05			rs528372608,COSM2151279	6-Jun	.		ENST00000375371	Transcript		A:0.0006	detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	ENSG00000179002	g.chr1:19166593G>A	14905			MODERATE		2.965	medium	getma.org/?cm=msa&ty=f&p=TS1R2_HUMAN&rb=575&re=815&var=R674C	NA	getma.org/?cm=var&var=hg19,1,19166593,G,A&fts=all	R674C	--	--	1																																			0,1	1		probably_damaging(0.989)	p.R674C	NM_152232	NP_689418	A:0	deleterious(0)	0,1	TS1R2_HUMAN	TAS1R2	HGNC	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)			6	2021	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	UPI0000456168	674			Cytoplasmic (Potential).		SNV	TAS1R2,missense_variant,p.Arg674Cys,ENST00000375371,NM_152232.2;	uc001bba.1	c.2020C>T	2042/2542	1	1			c.2020C>T						1	SNP	c.(2020-2022)CGC>TGC	55	55			skin(2)|ovary(1)|central_nervous_system(1)	4	Broad	taste receptor, type 1, member 2 precursor		Aspartame(DB00168)	19166593		0.572	ENSG00000179002	15325	g.chr1:19166593G>A	detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity							248.117726	KEEP	59	51	-1	112	133	59	51	-1	255.529937	112	133	0.32197	1	0	0	0	0	1	0	0	0	--	--		0	A				59	GBM-06-0645-TP	p.R674C	G	CCCTGGTAGCGGACCCAGTAG	NM_152232	NP_689418	19166593	Q8TE23	TS1R2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	2021	-	A	A		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	674			Cytoplasmic (Potential).			
TAS1R2	0	broad.mit.edu	GRCh37	1	19181287	19181287	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0821-01	TCGA-12-0821-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375371.3:c.677G>A	p.Arg226His	p.R226H	ENST00000375371	NM_152232.2	226	cGc/cAc	0			1			T	R/H	uc001bba.1	protein_coding	YES	CCDS187.1			677/2520									skin(2)|ovary(1)|central_nervous_system(1)	4	c.(676-678)CGC>CAC			Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF3,Superfamily_domains:SSF53822	taste receptor, type 1, member 2 precursor	Aspartame(DB00168)			ENSP00000364520		6-Mar	3.30E-05					6.82E-05			rs777052368,COSM3400128	6-Mar	.		ENST00000375371	Transcript			detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	ENSG00000179002	g.chr1:19181287C>T	14905			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=TS1R2_HUMAN&rb=70&re=454&var=R226H	getma.org/pdb.php?prot=TS1R2_HUMAN&from=70&to=454&var=R226H	getma.org/?cm=var&var=hg19,1,19181287,C,T&fts=all	R226H	--	--	1																																			0,1	1		benign(0.115)	p.R226H	NM_152232	NP_689418		tolerated(0.09)	0,1	TS1R2_HUMAN	TAS1R2	HGNC	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)			3	678	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	UPI0000456168	226			Extracellular (Potential).		SNV	TAS1R2,missense_variant,p.Arg226His,ENST00000375371,NM_152232.2;RP13-279N23.2,3_prime_UTR_variant,,ENST00000494072,;	uc001bba.1	c.677G>A	699/2542	2	2			c.677G>A						1	SNP	c.(676-678)CGC>CAC	33	33			skin(2)|ovary(1)|central_nervous_system(1)	4	Broad	taste receptor, type 1, member 2 precursor		Aspartame(DB00168)	19181287		0.642	ENSG00000179002	15325	g.chr1:19181287C>T	detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity							0.934835	KEEP	2	3	-1	38	18	2	3	-1	10.992816	38	18	0.086207	1	0	0	0	0	1	0	0	0	--	--		0	T				123	GBM-12-0821-TP	p.R226H	C	CCGGGCCACGCGCTCGCCAAG	NM_152232	NP_689418	19181287	Q8TE23	TS1R2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	3	678	-	T	T		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	226			Extracellular (Potential).			
TAS1R2	0	broad.mit.edu	GRCh37	1	19181421	19181421	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-2527-01	TCGA-27-2527-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375371.3:c.543G>A	p.Leu181=	p.L181=	ENST00000375371	NM_152232.2	181	ctG/ctA	0			1			T	L	uc001bba.1	protein_coding	YES	CCDS187.1			543/2520									skin(2)|ovary(1)|central_nervous_system(1)	4	c.(541-543)CTG>CTA			Gene3D:3.40.50.2300,Pfam_domain:PF01094,Prints_domain:PR00248,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF3,Superfamily_domains:SSF53822	taste receptor, type 1, member 2 precursor	Aspartame(DB00168)			ENSP00000364520		6-Mar									COSM3400129	6-Mar	.		ENST00000375371	Transcript			detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	ENSG00000179002	g.chr1:19181421C>T	14905			LOW								--	--	1																																			1	1			p.L181L	NM_152232	NP_689418			1	TS1R2_HUMAN	TAS1R2	HGNC	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)			3	544	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	UPI0000456168	181			Extracellular (Potential).		SNV	TAS1R2,synonymous_variant,p.=,ENST00000375371,NM_152232.2;RP13-279N23.2,3_prime_UTR_variant,,ENST00000494072,;	uc001bba.1	c.543G>A	565/2542	2	2			c.543G>A						1	SNP	c.(541-543)CTG>CTA	45	45			skin(2)|ovary(1)|central_nervous_system(1)	4	Broad	taste receptor, type 1, member 2 precursor		Aspartame(DB00168)	19181421		0.622	ENSG00000179002	15325	g.chr1:19181421C>T	detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity							7.453686	KEEP	4	4	-1	30	33	4	4	-1	16.494615	30	33	0.123077	1	0	0	0	0	0	0	1	0	--	--		0	T				204	GBM-27-2527-TP	p.L181L	C	GTGTGGTACGCAGCAAAGCCG	NM_152232	NP_689418	19181421	Q8TE23	TS1R2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	3	544	-	T	T		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	Silent	181			Extracellular (Potential).			
TAS1R2	0	broad.mit.edu	GRCh37	1	19168299	19168299	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375371.3:c.1515G>A	p.Lys505=	p.K505=	ENST00000375371	NM_152232.2	505	aaG/aaA	0			1			T	K	uc001bba.1	protein_coding	YES	CCDS187.1			1515/2520									skin(2)|ovary(1)|central_nervous_system(1)	4	c.(1513-1515)AAG>AAA			Pfam_domain:PF07562,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF3	taste receptor, type 1, member 2 precursor	Aspartame(DB00168)			ENSP00000364520		6-May									COSM3747818	6-May	.		ENST00000375371	Transcript			detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	ENSG00000179002	g.chr1:19168299C>T	14905			LOW								--	--	1																																			1	1			p.K505K	NM_152232	NP_689418			1	TS1R2_HUMAN	TAS1R2	HGNC	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)			5	1516	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	UPI0000456168	505			Extracellular (Potential).		SNV	TAS1R2,synonymous_variant,p.=,ENST00000375371,NM_152232.2;	uc001bba.1	c.1515G>A	1537/2542	2	2			c.1515G>A						1	SNP	c.(1513-1515)AAG>AAA	32	32			skin(2)|ovary(1)|central_nervous_system(1)	4	Broad	taste receptor, type 1, member 2 precursor		Aspartame(DB00168)	19168299		0.557	ENSG00000179002	15325	g.chr1:19168299C>T	detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity							-27.39658	KEEP	10	6	-1	87	104	10	6	-1	8.6507	87	104	0.043478	1	0	0	0	0	0	0	1	0	--	--		0	T				229	GBM-32-1977-TP	p.K505K	C	CCACAGGCTTCTTCTTTTGCC	NM_152232	NP_689418	19168299	Q8TE23	TS1R2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	5	1516	-	T	T		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	Silent	505			Extracellular (Potential).			
TAS2R1	0	broad.mit.edu	GRCh37	5	9629276	9629276	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-06-6701-01	TCGA-06-6701-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382492.2:c.869delA	p.Lys290SerfsTer42	p.K290Sfs*42	ENST00000382492	NM_019599.2	290	aAg/ag	0			1			-	K/X	uc003jem.1	protein_coding	YES	CCDS3876.1			869/900									ovary(3)	3	c.(868-870)AAGfs			Gene3D:1.20.1070.10,Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF36,Superfamily_domains:SSF81321	taste receptor T2R1				ENSP00000371932		1-Jan										1-Jan	.		ENST00000382492	Transcript			chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	ENSG00000169777	g.chr5:9629276delT	14909			HIGH								--	--	1																																				1			p.K290fs	NM_019599	NP_062545				TA2R1_HUMAN	TAS2R1	HGNC	Q9NYW7	TA2R1_HUMAN			U3KQT0_HUMAN,U3KPZ8_HUMAN,Q50L07_HUMAN		1	1188	-			UPI0000038B09	290			Cytoplasmic (Potential).		deletion	TAS2R1,frameshift_variant,p.Lys290SerfsTer42,ENST00000382492,NM_019599.2;TAS2R1,downstream_gene_variant,,ENST00000514078,;TAS2R1,downstream_gene_variant,,ENST00000506620,;CTD-2001E22.1,intron_variant,,ENST00000504182,;	uc003jem.1	c.869delA	1188/1355	5	5			c.869delA						5	DEL	c.(868-870)AAGfs	5	5			ovary(3)	3	Broad	taste receptor T2R1			9629276		0.393	ENSG00000169777	15326	g.chr5:9629276delT	chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity																				0.1	1	1	0	1	0	0	0	0	0	--	--		0	-				115	GBM-06-6701-TP	p.K290fs	T	GAGGAGGAACTTTTTTGCATT	NM_019599	NP_062545	9629276	Q9NYW7	TA2R1_HUMAN	0			1	1188	-	-	-			Frame_Shift_Del	290			Cytoplasmic (Potential).			
TAS2R10	50839		GRCh37	12	10978396	10978396	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000240619.2:c.473A>G	p.Asn158Ser	p.N158S	ENST00000240619	NM_023921.1	158	aAt/aGt	0																																																																																																																																																																																																																																												
TAS2R13	50838	broad.mit.edu	GRCh37	12	11061487	11061487	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0157-01	TCGA-06-0157-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000390677.2:c.411C>T	p.Thr137=	p.T137=	ENST00000390677	NM_023920.2	137	acC/acT	0			1			A	T	uc001qzg.1	protein_coding	YES	CCDS8635.1			411/912									breast(1)|skin(1)	2	c.(409-411)ACC>ACT			Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF28,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix	taste receptor, type 2, member 13				ENSP00000375095		1-Jan									COSM2150088	1-Jan	.		ENST00000390677	Transcript			sensory perception of taste	integral to membrane	taste receptor activity	ENSG00000212128	g.chr12:11061487G>A	14919			LOW								--	--	1																																		PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron	1	1			p.T137T	NM_023920	NP_076409			1	T2R13_HUMAN	TAS2R13	HGNC	Q9NYV9	T2R13_HUMAN			Q50KQ5_HUMAN		1	675	-			UPI0000038B15	137			Helical; Name=4; (Potential).		SNV	TAS2R13,synonymous_variant,p.=,ENST00000390677,NM_023920.2;PRR4,intron_variant,,ENST00000536668,;PRR4,intron_variant,,ENST00000535024,;PRR4,intron_variant,,ENST00000539853,;PRR4,intron_variant,,ENST00000536086,;PRR4,intron_variant,,ENST00000541977,;PRR4,intron_variant,,ENST00000546317,;	uc001qzg.1	c.411C>T	675/1637	1	1			c.411C>T						12	SNP	c.(409-411)ACC>ACT	60	60			breast(1)|skin(1)	2	Broad	taste receptor, type 2, member 13			11061487		0.353	ENSG00000212128	15328	g.chr12:11061487G>A	sensory perception of taste	integral to membrane	taste receptor activity							162.129632	KEEP	29	28	-1	32	45	29	28	-1	162.728896	32	45	0.423729	1	0	0	0	0	0	0	1	0	--	--		0	A			PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron	28	GBM-06-0157-TP	p.T137T	G	AGAAGACCAAGGTTCCTAGCA	NM_023920	NP_076409	11061487	Q9NYV9	T2R13_HUMAN	0			1	675	-	A	A			Silent	137			Helical; Name=4; (Potential).			
TAS2R16	0	broad.mit.edu	GRCh37	7	122635067	122635067	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-27-1838-01	TCGA-27-1838-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000249284.2:c.622C>A	p.Gln208Lys	p.Q208K	ENST00000249284	NM_016945.2	208	Caa/Aaa	0			1			T	Q/K	uc003vkl.1	protein_coding	YES	CCDS5785.1			622/876									ovary(1)|skin(1)	2	c.(622-624)CAA>AAA			hmmpanther:PTHR11394,Pfam_domain:PF05296,Superfamily_domains:SSF81321	taste receptor T2R16				ENSP00000249284		1-Jan									COSM3411534	1-Jan	.		ENST00000249284	Transcript	1		detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	ENSG00000128519	g.chr7:122635067G>T	14921			MODERATE		0.92	low	getma.org/?cm=msa&ty=f&p=T2R16_HUMAN&rb=1&re=289&var=Q208K	NA	getma.org/?cm=var&var=hg19,7,122635067,G,T&fts=all	Q208K	--	--	1																																			1	1		benign(0.045)	p.Q208K	NM_016945	NP_058641		tolerated(0.58)	1	T2R16_HUMAN	TAS2R16	HGNC	Q9NYV7	T2R16_HUMAN			Q50KN6_HUMAN		1	688	-			UPI0000038B18	208			Cytoplasmic (Potential).		SNV	TAS2R16,missense_variant,p.Gln208Lys,ENST00000249284,NM_016945.2;	uc003vkl.1	c.622C>A	688/996	1	1			c.622C>A						7	SNP	c.(622-624)CAA>AAA	6	6			ovary(1)|skin(1)	2	Broad	taste receptor T2R16			122635067		0.463	ENSG00000128519	15330	g.chr7:122635067G>T	detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding							132.624095	KEEP	33	33	0.5	124	127	33	33	0.5	157.094451	124	127	0.196491	1	0	0	0	0	1	0	0	0	--	--		0	T				197	GBM-27-1838-TP	p.Q208K	G	CTATGATGTTGTATCTGCTTG	NM_016945	NP_058641	122635067	Q9NYV7	T2R16_HUMAN	0			1	688	-	T	T			Missense_Mutation	208			Cytoplasmic (Potential).			
TAS2R30	0	broad.mit.edu	GRCh37	12	11286246	11286246	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-5954-01	TCGA-19-5954-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000539585.1:c.598T>C	p.Cys200Arg	p.C200R	ENST00000539585	NM_001097643.1	200	Tgt/Cgt	0			1			G	C/R	uc009zhs.1	protein_coding	YES	CCDS53750.1			598/960										0	c.(598-600)TGT>CGT			Low_complexity_(Seg):seg,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF48,Pfam_domain:PF05296,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	type 2 taste receptor member 30				ENSP00000444736		1-Jan									COSM3398366	1-Jan	.		ENST00000539585	Transcript						ENSG00000256188	g.chr12:11286246A>G	19112			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=T2R30_HUMAN&rb=1&re=298&var=C200R	NA	getma.org/?cm=var&var=hg19,12,11286246,A,G&fts=all	C200R	--	--	1																																		PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	1	1		possibly_damaging(0.894)	p.C200R	NM_001097643	NP_001091112		tolerated(0.18)	1		TAS2R30	HGNC					Q50KG7_HUMAN		1	598	-			UPI000006202F						SNV	TAS2R30,missense_variant,p.Cys200Arg,ENST00000539585,NM_001097643.1;TAS2R14,intron_variant,,ENST00000381852,;PRR4,intron_variant,,ENST00000536668,;PRR4,intron_variant,,ENST00000535024,;PRR4,intron_variant,,ENST00000546265,;PRR4,intron_variant,,ENST00000541977,;PRR4,intron_variant,,ENST00000541175,;	uc009zhs.1	c.598T>C	998/1687	3	3			c.598T>C						12	SNP	c.(598-600)TGT>CGT	5	5				0	Broad	type 2 taste receptor member 30			11286246		0.428	ENSG00000256188	15334	g.chr12:11286246A>G										-44.28383	KEEP	10	6	-1	130	190	10	6	-1	19.028316	130	190	0.036765	1	0	0	0	0	1	0	0	0	--	--		0	G			PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	174	GBM-19-5954-TP	p.C200R	A	CACAGAGAACAGATTAACAGC	NM_001097643	NP_001091112	11286246			0			1	598	-	G	G			Missense_Mutation							
TAS2R39	259285	broad.mit.edu	GRCh37	7	142881262	142881262	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0169-01	TCGA-06-0169-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000446620.1:c.751G>A	p.Asp251Asn	p.D251N	ENST00000446620	NM_176881.2	251	Gac/Aac	0			1			A	D/N	uc011ksw.1	protein_coding	YES	CCDS47729.1			751/1017									skin(1)	1	c.(751-753)GAC>AAC			Superfamily_domains:SSF81321,Pfam_domain:PF05296,hmmpanther:PTHR11394:SF40,hmmpanther:PTHR11394	taste receptor, type 2, member 39				ENSP00000405095		1-Jan									COSM3411717	1-Jan	.		ENST00000446620	Transcript			sensory perception of taste	integral to membrane	G-protein coupled receptor activity	ENSG00000236398	g.chr7:142881262G>A	18886			MODERATE		1.525	low	getma.org/?cm=msa&ty=f&p=T2R39_HUMAN&rb=29&re=330&var=D251N	NA	getma.org/?cm=var&var=hg19,7,142881262,G,A&fts=all	D251N	--	--	1																																			1	1		possibly_damaging(0.729)	p.D251N	NM_176881	NP_795362		tolerated(0.1)	1	T2R39_HUMAN	TAS2R39	HGNC	P59534	T2R39_HUMAN			Q50KL2_HUMAN		1	751	+	Melanoma(164;0.059)		UPI00000620BE	251			Cytoplasmic (Potential).		SNV	TAS2R39,missense_variant,p.Asp251Asn,ENST00000446620,NM_176881.2;	uc011ksw.1	c.751G>A	751/1017	1	1			c.751G>A						7	SNP	c.(751-753)GAC>AAC	62	62			skin(1)	1	Broad	taste receptor, type 2, member 39			142881262		0.498	ENSG00000236398	15337	g.chr7:142881262G>A	sensory perception of taste	integral to membrane	G-protein coupled receptor activity							115.18587	KEEP	29	33	-1	134	143	29	33	-1	143.422643	134	143	0.181818	1	0	0	0	0	1	0	0	0	--	--		0	A				34	GBM-06-0169-TP	p.D251N	G	AGGGTCCAACGACCCCAGCAT	NM_176881	NP_795362	142881262	P59534	T2R39_HUMAN	0			1	751	+	A	A	Melanoma(164;0.059)		Missense_Mutation	251			Cytoplasmic (Potential).			
TAS2R4	50832		GRCh37	7	141478700	141478700	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000247881.2:c.412C>G	p.Leu138Val	p.L138V	ENST00000247881	NM_016944.1	138	Ctg/Gtg	0																																																																																																																																																																																																																																												
TAS2R41	259287	broad.mit.edu	GRCh37	7	143174982	143174982	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01	TCGA-06-0645-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408916.1:c.17C>T	p.Thr6Met	p.T6M	ENST00000408916	NM_176883.2	6	aCg/aTg	0	T:0.0002	T:0	1	T:0		T	T/M	uc003wdc.1	protein_coding	YES	CCDS43663.1			17/924									pancreas(1)|skin(1)	2	c.(16-18)ACG>ATG			Low_complexity_(Seg):seg,hmmpanther:PTHR11394:SF32,hmmpanther:PTHR11394,Gene3D:1.20.1070.10,Pfam_domain:PF05296,Superfamily_domains:SSF81321	taste receptor, type 2, member 41		T:0.001	T:0.0001	ENSP00000386201	T:0	1-Jan	5.78E-05	0.000102		0.000232		4.50E-05		6.06E-05	rs371232991,COSM2151294	1-Jan	.		ENST00000408916	Transcript		T:0.0002	sensory perception of taste	integral to membrane	G-protein coupled receptor activity	ENSG00000221855	g.chr7:143174982C>T	18883			MODERATE		1.14	low	getma.org/?cm=msa&ty=f&p=T2R41_HUMAN&rb=1&re=302&var=T6M	NA	getma.org/?cm=var&var=hg19,7,143174982,C,T&fts=all	T6M	--	--	1																																		uc003wda.2_Intron	0,1	1		unknown(0)	p.T6M	NM_176883	NP_795364	T:0	deleterious(0)	0,1	T2R41_HUMAN	TAS2R41	HGNC	P59536	T2R41_HUMAN					1	17	+	Melanoma(164;0.15)		UPI000000D823	6			Extracellular (Potential).		SNV	TAS2R41,missense_variant,p.Thr6Met,ENST00000408916,NM_176883.2;EPHA1-AS1,intron_variant,,ENST00000429289,;	uc003wdc.1	c.17C>T	17/924	1	1			c.17C>T						7	SNP	c.(16-18)ACG>ATG	1	1			pancreas(1)|skin(1)	2	Broad	taste receptor, type 2, member 41			143174982		0.572	ENSG00000221855	15340	g.chr7:143174982C>T	sensory perception of taste	integral to membrane	G-protein coupled receptor activity							81.863312	KEEP	22	18	-1	91	69	22	18	-1	97.157525	91	69	0.201087	1	0	0	0	0	1	0	0	0	--	--		0	T			uc003wda.2_Intron	59	GBM-06-0645-TP	p.T6M	C	GCAGCACTGACGGCCTTCTTC	NM_176883	NP_795364	143174982	P59536	T2R41_HUMAN	0			1	17	+	T	T	Melanoma(164;0.15)		Missense_Mutation	6			Extracellular (Potential).			
TAS2R41	259287	broad.mit.edu	GRCh37	7	143175836	143175836	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0645-01	TCGA-06-0645-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408916.1:c.871C>T	p.Arg291Ter	p.R291*	ENST00000408916	NM_176883.2	291	Cga/Tga	0			1			T	R/*	uc003wdc.1	protein_coding	YES	CCDS43663.1			871/924									pancreas(1)|skin(1)	2	c.(871-873)CGA>TGA			hmmpanther:PTHR11394:SF32,hmmpanther:PTHR11394,Gene3D:1.20.1070.10,Pfam_domain:PF05296,Superfamily_domains:SSF81321	taste receptor, type 2, member 41				ENSP00000386201		1-Jan	1.65E-05					1.50E-05		6.08E-05	rs755872201,COSM3411733	1-Jan	.		ENST00000408916	Transcript			sensory perception of taste	integral to membrane	G-protein coupled receptor activity	ENSG00000221855	g.chr7:143175836C>T	18883			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,143175836,C,T&fts=all	R291*	--	--	1																																		uc003wda.2_Intron	0,1	1			p.R291*	NM_176883	NP_795364			0,1	T2R41_HUMAN	TAS2R41	HGNC	P59536	T2R41_HUMAN					1	871	+	Melanoma(164;0.15)		UPI000000D823	291			Cytoplasmic (Potential).		SNV	TAS2R41,stop_gained,p.Arg291Ter,ENST00000408916,NM_176883.2;EPHA1-AS1,intron_variant,,ENST00000429289,;	uc003wdc.1	c.871C>T	871/924	5	1			c.871C>T						7	SNP	c.(871-873)CGA>TGA	1	1			pancreas(1)|skin(1)	2	Broad	taste receptor, type 2, member 41			143175836		0.502	ENSG00000221855	15340	g.chr7:143175836C>T	sensory perception of taste	integral to membrane	G-protein coupled receptor activity							43.843909	KEEP	8	14	-1	48	47	8	14	-1	53.453932	48	47	0.188679	1	0	0	0	0	0	1	0	0	--	--		0	T			uc003wda.2_Intron	59	GBM-06-0645-TP	p.R291*	C	CCTCAAGCTTCGAAGCGTGTT	NM_176883	NP_795364	143175836	P59536	T2R41_HUMAN	0			1	871	+	T	T	Melanoma(164;0.15)		Nonsense_Mutation	291			Cytoplasmic (Potential).			
TAS2R41	0	broad.mit.edu	GRCh37	7	143175209	143175209	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-14-1034-01	TCGA-14-1034-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408916.1:c.244C>T	p.Arg82Ter	p.R82*	ENST00000408916	NM_176883.2	82	Cga/Tga	0	T:0		1			T	R/*	uc003wdc.1	protein_coding	YES	CCDS43663.1			244/924									pancreas(1)|skin(1)	2	c.(244-246)CGA>TGA			hmmpanther:PTHR11394:SF32,hmmpanther:PTHR11394,Gene3D:1.20.1070.10,Pfam_domain:PF05296,Superfamily_domains:SSF81321	taste receptor, type 2, member 41			T:0.0001	ENSP00000386201		1-Jan	0.000124					3.00E-05		0.000787	rs376728592,COSM2155251	1-Jan	common_variant		ENST00000408916	Transcript			sensory perception of taste	integral to membrane	G-protein coupled receptor activity	ENSG00000221855	g.chr7:143175209C>T	18883			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,143175209,C,T&fts=all	R82*	--	--	1																																		uc003wda.2_Intron	0,1	1			p.R82*	NM_176883	NP_795364			0,1	T2R41_HUMAN	TAS2R41	HGNC	P59536	T2R41_HUMAN					1	244	+	Melanoma(164;0.15)		UPI000000D823	82			Extracellular (Potential).		SNV	TAS2R41,stop_gained,p.Arg82Ter,ENST00000408916,NM_176883.2;EPHA1-AS1,intron_variant,,ENST00000429289,;	uc003wdc.1	c.244C>T	244/924	5	1			c.244C>T						7	SNP	c.(244-246)CGA>TGA	12	12			pancreas(1)|skin(1)	2	Broad	taste receptor, type 2, member 41			143175209		0.542	ENSG00000221855	15340	g.chr7:143175209C>T	sensory perception of taste	integral to membrane	G-protein coupled receptor activity							151.177365	KEEP	27	31	-1	69	72	27	31	-1	158.697388	69	72	0.286486	1	0	0	0	0	0	1	0	0	--	--		0	T			uc003wda.2_Intron	142	GBM-14-1034-TP	p.R82*	C	GGGTCTCGGCCGACAGTTCTT	NM_176883	NP_795364	143175209	P59536	T2R41_HUMAN	0			1	244	+	T	T	Melanoma(164;0.15)		Nonsense_Mutation	82			Extracellular (Potential).			
TAS2R41	0	broad.mit.edu	GRCh37	7	143175728	143175728	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01	TCGA-28-5208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408916.1:c.763G>A	p.Ala255Thr	p.A255T	ENST00000408916	NM_176883.2	255	Gca/Aca	0			1			A	A/T	uc003wdc.1	protein_coding	YES	CCDS43663.1			763/924									pancreas(1)|skin(1)	2	c.(763-765)GCA>ACA			Transmembrane_helices:TMhelix,hmmpanther:PTHR11394:SF32,hmmpanther:PTHR11394,Gene3D:1.20.1070.10,Pfam_domain:PF05296,Superfamily_domains:SSF81321	taste receptor, type 2, member 41				ENSP00000386201		1-Jan	0.000107	0.000102				1.50E-05		0.000606	rs779872662,COSM1739326	1-Jan	common_variant		ENST00000408916	Transcript			sensory perception of taste	integral to membrane	G-protein coupled receptor activity	ENSG00000221855	g.chr7:143175728G>A	18883			MODERATE		0.155	neutral	getma.org/?cm=msa&ty=f&p=T2R41_HUMAN&rb=1&re=302&var=A255T	NA	getma.org/?cm=var&var=hg19,7,143175728,G,A&fts=all	A255T	--	--	1																																		uc003wda.2_Intron	0,1	1		benign(0.013)	p.A255T	NM_176883	NP_795364		tolerated(0.52)	0,1	T2R41_HUMAN	TAS2R41	HGNC	P59536	T2R41_HUMAN					1	763	+	Melanoma(164;0.15)		UPI000000D823	255			Helical; Name=6; (Potential).		SNV	TAS2R41,missense_variant,p.Ala255Thr,ENST00000408916,NM_176883.2;EPHA1-AS1,intron_variant,,ENST00000429289,;	uc003wdc.1	c.763G>A	763/924	1	1			c.763G>A						7	SNP	c.(763-765)GCA>ACA	53	53			pancreas(1)|skin(1)	2	Broad	taste receptor, type 2, member 41			143175728		0.493	ENSG00000221855	15340	g.chr7:143175728G>A	sensory perception of taste	integral to membrane	G-protein coupled receptor activity							-47.751956	KEEP	4	2	-1	103	139	4	2	-1	9.703063	103	139	0.025974	1	0	0	0	0	1	0	0	0	--	--		0	A			uc003wda.2_Intron	217	GBM-28-5208-TP	p.A255T	G	CATTGATGCCGCAAAATTTAT	NM_176883	NP_795364	143175728	P59536	T2R41_HUMAN	0			1	763	+	A	A	Melanoma(164;0.15)		Missense_Mutation	255			Helical; Name=6; (Potential).			
TAS2R41	259287		GRCh37	7	143175728	143175728	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000408916.1:c.763G>A	p.Ala255Thr	p.A255T	ENST00000408916	NM_176883.2	255	Gca/Aca	0																																																																																																																																																																																																																																												
TAS2R46	259292	broad.mit.edu	GRCh37	12	11214816	11214816	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000533467.1:c.78C>T	p.Phe26=	p.F26=	ENST00000533467	NM_176887.2	26	ttC/ttT	0			1			A	F	uc001qzp.1	protein_coding	YES	CCDS53748.1			78/930									ovary(1)	1	c.(76-78)TTC>TTT			Transmembrane_helices:TMhelix,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF48,Pfam_domain:PF05296,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321	taste receptor, type 2, member 46				ENSP00000436450		1-Jan	9.10E-05	0.000103			0.000315	6.07E-05			rs751721088,COSM1358822	1-Jan	.		ENST00000533467	Transcript			sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity	ENSG00000226761	g.chr12:11214816G>A	18877			LOW								--	--	1																																		PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	0,1	1			p.F26F	NM_176887	NP_795368			0,1	T2R46_HUMAN	TAS2R46	HGNC	P59540	T2R46_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)	Q50KH0_HUMAN		1	78	-			UPI000000D821	26			Cytoplasmic (Potential).		SNV	TAS2R46,synonymous_variant,p.=,ENST00000533467,NM_176887.2;TAS2R14,intron_variant,,ENST00000381852,;PRR4,intron_variant,,ENST00000536668,;PRR4,intron_variant,,ENST00000535024,;PRR4,intron_variant,,ENST00000546265,;PRR4,intron_variant,,ENST00000541977,;	uc001qzp.1	c.78C>T	78/930	2	2			c.78C>T						12	SNP	c.(76-78)TTC>TTT	30	30			ovary(1)	1	Broad	taste receptor, type 2, member 46			11214816		0.363	ENSG00000226761	15343	g.chr12:11214816G>A	sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity							-1.744845	KEEP	5	8	-1	26	34	5	8	-1	6.594965	26	34	0.085106	1	0	0	0	0	0	0	1	0	--	--		0	A			PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	18	GBM-06-0137-TP	p.F26F	G	CCAATGCTATGAAGCCATTAG	NM_176887	NP_795368	11214816	P59540	T2R46_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)	1	78	-	A	A			Silent	26			Cytoplasmic (Potential).			
TAS2R5	0	broad.mit.edu	GRCh37	7	141490298	141490298	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-32-4213-01	TCGA-32-4213-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000247883.4:c.137delT	p.Leu46ProfsTer16	p.L46Pfs*16	ENST00000247883	NM_018980.2	46	cTc/cc	0			1			-	L/X	uc003vwr.1	protein_coding	YES	CCDS5869.1			137/900										0	c.(136-138)CTCfs			Transmembrane_helices:TMhelix,hmmpanther:PTHR11394:SF8,hmmpanther:PTHR11394,Pfam_domain:PF05296,Superfamily_domains:SSF81321	taste receptor T2R5				ENSP00000247883		1-Jan										1-Jan	.		ENST00000247883	Transcript			chemosensory behavior|sensory perception of taste		taste receptor activity	ENSG00000127366	g.chr7:141490298delT	14912			HIGH								--	--	1																																				1			p.L46fs	NM_018980	NP_061853				TA2R5_HUMAN	TAS2R5	HGNC	Q9NYW4	TA2R5_HUMAN			A4D1U0_HUMAN,Q50KW4_HUMAN		1	282	+	Melanoma(164;0.0171)		UPI0000038B0D	46			Helical; Name=2; (Potential).		deletion	TAS2R5,frameshift_variant,p.Leu46ProfsTer16,ENST00000247883,NM_018980.2;SSBP1,downstream_gene_variant,,ENST00000465582,;TAS2R6,downstream_gene_variant,,ENST00000605022,;	uc003vwr.1	c.137delT	282/1150	5	5			c.137delT						7	DEL	c.(136-138)CTCfs	11	11				0	Broad	taste receptor T2R5			141490298		0.468	ENSG00000127366	15344	g.chr7:141490298delT	chemosensory behavior|sensory perception of taste		taste receptor activity																				0.35	1	1	0	1	0	0	0	0	0	--	--		0	-				247	GBM-32-4213-TP	p.L46fs	T	TCATATAACCTCATTATCCTG	NM_018980	NP_061853	141490298	Q9NYW4	TA2R5_HUMAN	0			1	282	+	-	-	Melanoma(164;0.0171)		Frame_Shift_Del	46			Helical; Name=2; (Potential).			
TAS2R60	338398	broad.mit.edu	GRCh37	7	143140562	143140562	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-5859-01	TCGA-06-5859-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332690.1:c.17T>C	p.Met6Thr	p.M6T	ENST00000332690	NM_177437.1	6	aTg/aCg	0			1			C	M/T	uc011ktg.1	protein_coding	YES	CCDS5885.1			17/957									skin(6)	6	c.(16-18)ATG>ACG			Superfamily_domains:SSF81321	taste receptor, type 2, member 60				ENSP00000327724		1-Jan									COSM2153388	1-Jan	.		ENST00000332690	Transcript			sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	ENSG00000185899	g.chr7:143140562T>C	20639			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=T2R60_HUMAN&rb=1&re=41&var=M6T	NA	getma.org/?cm=var&var=hg19,7,143140562,T,C&fts=all	M6T	--	--	1																																		uc003wda.2_Intron	1	1		benign(0.002)	p.M6T	NM_177437	NP_803186		tolerated(0.53)	1	T2R60_HUMAN	TAS2R60	HGNC	P59551	T2R60_HUMAN			Q50KC8_HUMAN		1	17	+	Melanoma(164;0.172)		UPI000000D824	6			Extracellular (Potential).		SNV	TAS2R60,missense_variant,p.Met6Thr,ENST00000332690,NM_177437.1;EPHA1-AS1,intron_variant,,ENST00000429289,;	uc011ktg.1	c.17T>C	17/957	3	3			c.17T>C						7	SNP	c.(16-18)ATG>ACG	5	5			skin(6)	6	Broad	taste receptor, type 2, member 60			143140562		0.468	ENSG00000185899	15346	g.chr7:143140562T>C	sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity							176.54346	KEEP	35	39	-1	96	134	35	39	-1	193.101366	96	134	0.240741	1	0	0	0	0	1	0	0	0	--	--		0	C			uc003wda.2_Intron	103	GBM-06-5859-TP	p.M6T	T	GGAGACCACATGGTTCTAGGA	NM_177437	NP_803186	143140562	P59551	T2R60_HUMAN	0			1	17	+	C	C	Melanoma(164;0.172)		Missense_Mutation	6			Extracellular (Potential).			
TASP1	55617	broad.mit.edu	GRCh37	20	13514755	13514755	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0882-01	TCGA-06-0882-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337743.4:c.709G>A	p.Ala237Thr	p.A237T	ENST00000337743	NM_017714.2	237	Gct/Act	0			1			T	A/T	uc002woi.2	protein_coding	YES	CCDS13116.1			709/1263										0	c.(709-711)GCT>ACT			hmmpanther:PTHR10188,hmmpanther:PTHR10188:SF8,Pfam_domain:PF01112,Superfamily_domains:SSF56235	taspase 1 precursor				ENSP00000338624		14-Sep	8.24E-06					1.50E-05			rs781681067,COSM3404937	14-Sep	.		ENST00000337743	Transcript			asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity	ENSG00000089123	g.chr20:13514755C>T	15859			MODERATE		3.335	medium	getma.org/?cm=msa&ty=f&p=TASP1_HUMAN&rb=42&re=346&var=A237T	getma.org/pdb.php?prot=TASP1_HUMAN&from=42&to=346&var=A237T	getma.org/?cm=var&var=hg19,20,13514755,C,T&fts=all	A237T	--	--	1																																		TASP1_uc010zri.1_Intron|TASP1_uc002woh.2_Missense_Mutation_p.A214T|TASP1_uc010zrj.1_RNA	0,1	1		probably_damaging(0.998)	p.A237T	NM_017714	NP_060184		deleterious(0)	0,1	TASP1_HUMAN	TASP1	HGNC	Q9H6P5	TASP1_HUMAN					9	826	-			UPI00000382E5	237					SNV	TASP1,missense_variant,p.Ala237Thr,ENST00000337743,NM_017714.2;TASP1,missense_variant,p.Ala214Thr,ENST00000455532,;TASP1,intron_variant,,ENST00000539805,;TASP1,non_coding_transcript_exon_variant,,ENST00000480436,;TASP1,non_coding_transcript_exon_variant,,ENST00000465381,;	uc002woi.2	c.709G>A	830/2352	2	2			c.709G>A						20	SNP	c.(709-711)GCT>ACT	28	28				0	Broad	taspase 1 precursor			13514755		0.507	ENSG00000089123	15350	g.chr20:13514755C>T	asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity							-36.983441	KEEP	4	2	-1	116	143	4	2	-1	8.145011	116	143	0.027322	1	0	0	0	0	1	0	0	0	--	--		0	T			TASP1_uc010zri.1_Intron|TASP1_uc002woh.2_Missense_Mutation_p.A214T|TASP1_uc010zrj.1_RNA	77	GBM-06-0882-TP	p.A237T	C	ACAACCACAGCGCCTACCGTG	NM_017714	NP_060184	13514755	Q9H6P5	TASP1_HUMAN	0			9	826	-	T	T			Missense_Mutation	237						
TAT	6898	broad.mit.edu	GRCh37	16	71603782	71603782	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0192-01	TCGA-06-0192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355962.4:c.1100G>A	p.Arg367His	p.R367H	ENST00000355962	NM_000353.2	367	cGc/cAc	0			1			T	R/H	uc002fap.2	protein_coding	YES	CCDS10903.1			1100/1365									ovary(2)	2	c.(1099-1101)CGC>CAC			hmmpanther:PTHR11751:SF28,hmmpanther:PTHR11751,TIGRFAM_domain:TIGR01264,Pfam_domain:PF00155,TIGRFAM_domain:TIGR01265,Gene3D:3.90.1150.10,PIRSF_domain:PIRSF000517,Superfamily_domains:SSF53383	tyrosine aminotransferase	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)			ENSP00000348234		12-Oct	2.47E-05					4.82E-05			rs774749746,COSM2150666	12-Oct	.		ENST00000355962	Transcript	1		2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	ENSG00000198650	g.chr16:71603782C>T	11573			MODERATE		1.665	low	getma.org/?cm=msa&ty=f&p=ATTY_HUMAN&rb=71&re=434&var=R367H	getma.org/pdb.php?prot=ATTY_HUMAN&from=71&to=434&var=R367H	getma.org/?cm=var&var=hg19,16,71603782,C,T&fts=all	R367H	--	--	1																																			0,1	1		benign(0.003)	p.R367H	NM_000353	NP_000344		tolerated(0.17)	0,1	ATTY_HUMAN	TAT	HGNC	P17735	ATTY_HUMAN		Kidney(780;0.0157)			10	1199	-		Ovarian(137;0.125)	UPI0000126636	367					SNV	TAT,missense_variant,p.Arg367His,ENST00000355962,NM_000353.2;ZNF19,upstream_gene_variant,,ENST00000566202,;RP11-432I5.1,intron_variant,,ENST00000561529,;ZNF19,upstream_gene_variant,,ENST00000568446,;TAT,non_coding_transcript_exon_variant,,ENST00000564007,;	uc002fap.2	c.1100G>A	1234/3983	1	1			c.1100G>A						16	SNP	c.(1099-1101)CGC>CAC	12	12			ovary(2)	2	Broad	tyrosine aminotransferase		L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	71603782		0.512	ENSG00000198650	15351	g.chr16:71603782C>T	2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)			Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)			39.576308	KEEP	9	8	-1	18	24	9	8	-1	41.435916	18	24	0.301887	1	0	0	0	0	1	0	0	0	--	--		0	T				44	GBM-06-0192-TP	p.R367H	C	CCCAGAAGGGCGGACTGGCCG	NM_000353	NP_000344	71603782	P17735	ATTY_HUMAN	0		Kidney(780;0.0157)	10	1199	-	T	T		Ovarian(137;0.125)	Missense_Mutation	367						
TAT	6898	broad.mit.edu	GRCh37	16	71603782	71603782	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0875-01	TCGA-06-0875-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355962.4:c.1100G>A	p.Arg367His	p.R367H	ENST00000355962	NM_000353.2	367	cGc/cAc	0			1			T	R/H	uc002fap.2	protein_coding	YES	CCDS10903.1			1100/1365									ovary(2)	2	c.(1099-1101)CGC>CAC			hmmpanther:PTHR11751:SF28,hmmpanther:PTHR11751,TIGRFAM_domain:TIGR01264,Pfam_domain:PF00155,TIGRFAM_domain:TIGR01265,Gene3D:3.90.1150.10,PIRSF_domain:PIRSF000517,Superfamily_domains:SSF53383	tyrosine aminotransferase	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)			ENSP00000348234		12-Oct	2.47E-05					4.82E-05			rs774749746,COSM2150666	12-Oct	.		ENST00000355962	Transcript	1		2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	ENSG00000198650	g.chr16:71603782C>T	11573			MODERATE		1.665	low	getma.org/?cm=msa&ty=f&p=ATTY_HUMAN&rb=71&re=434&var=R367H	getma.org/pdb.php?prot=ATTY_HUMAN&from=71&to=434&var=R367H	getma.org/?cm=var&var=hg19,16,71603782,C,T&fts=all	R367H	--	--	1																																			0,1	1		benign(0.003)	p.R367H	NM_000353	NP_000344		tolerated(0.17)	0,1	ATTY_HUMAN	TAT	HGNC	P17735	ATTY_HUMAN		Kidney(780;0.0157)			10	1199	-		Ovarian(137;0.125)	UPI0000126636	367					SNV	TAT,missense_variant,p.Arg367His,ENST00000355962,NM_000353.2;ZNF19,upstream_gene_variant,,ENST00000566202,;RP11-432I5.1,intron_variant,,ENST00000561529,;ZNF19,upstream_gene_variant,,ENST00000568446,;TAT,non_coding_transcript_exon_variant,,ENST00000564007,;	uc002fap.2	c.1100G>A	1234/3983	1	1			c.1100G>A						16	SNP	c.(1099-1101)CGC>CAC	12	12			ovary(2)	2	Broad	tyrosine aminotransferase		L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	71603782		0.512	ENSG00000198650	15351	g.chr16:71603782C>T	2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)			Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)			53.712273	KEEP	9	14	-1	16	18	9	14	-1	54.253653	16	18	0.387755	1	0	0	0	0	1	0	0	0	--	--		0	T				71	GBM-06-0875-TP	p.R367H	C	CCCAGAAGGGCGGACTGGCCG	NM_000353	NP_000344	71603782	P17735	ATTY_HUMAN	0		Kidney(780;0.0157)	10	1199	-	T	T		Ovarian(137;0.125)	Missense_Mutation	367						
TATDN2	0	broad.mit.edu	GRCh37	3	10312062	10312064	+	inframe_deletion	In_Frame_Del	DEL	GCA	GCA	-			TCGA-32-4208-01	TCGA-32-4208-01	GCA	GCA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000287652.4:c.1205_1207delGCA	p.Ser402del	p.S402del	ENST00000287652	NM_014760.3	399	gGCAgc/ggc	0			1			-	GS/G	uc003bvg.2	protein_coding	YES	CCDS33698.1			1196-1198/2286									pancreas(2)	2	c.(1195-1200)GGCAGC>GGC			Low_complexity_(Seg):seg,hmmpanther:PTHR10060,hmmpanther:PTHR10060:SF19	TatD DNase domain containing 2				ENSP00000287652		8-Apr										8-Apr	.		ENST00000287652	Transcript				nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	ENSG00000157014	g.chr3:10312062_10312064delGCA	28988	9		MODERATE								--	--	1																																		TATDN2_uc003bvf.2_In_Frame_Del_p.S402del|TATDN2_uc011atr.1_In_Frame_Del_p.S402del|TATDN2_uc011ats.1_RNA|TATDN2_uc011att.1_RNA		1			p.S402del	NM_014760	NP_055575				TATD2_HUMAN	TATDN2	HGNC	Q93075	TATD2_HUMAN			H7BZJ2_HUMAN		4	1777_1779	+			UPI000013DEC1	402					deletion	TATDN2,inframe_deletion,p.Ser402del,ENST00000287652,NM_014760.3;TATDN2,inframe_deletion,p.Ser402del,ENST00000448281,;TATDN2,upstream_gene_variant,,ENST00000426850,;RP11-438J1.1,inframe_deletion,p.Ser345del,ENST00000437082,;RP11-438J1.1,3_prime_UTR_variant,,ENST00000450534,;	uc003bvg.2	c.1196_1198delGCA	2247-2249/5342	5	5			c.1196_1198delGCA						3	DEL	c.(1195-1200)GGCAGC>GGC	30	30			pancreas(2)	2	Broad	TatD DNase domain containing 2			10312064		0.552	ENSG00000157014	15353	g.chr3:10312062_10312064delGCA		nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding																				0.02	1	1	0	1	0	0	0	0	0	--	--		0	-			TATDN2_uc003bvf.2_In_Frame_Del_p.S402del|TATDN2_uc011atr.1_In_Frame_Del_p.S402del|TATDN2_uc011ats.1_RNA|TATDN2_uc011att.1_RNA	243	GBM-32-4208-TP	p.S402del	GCA	CCCTCCACAGGCAGCAGCAGCAA	NM_014760	NP_055575	10312062	Q93075	TATD2_HUMAN	0			4	1777_1779	+	-	-			In_Frame_Del	402						
TATDN2	9797		GRCh37	3	10302000	10302000	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000287652.4:c.594G>A	p.Ser198=	p.S198=	ENST00000287652	NM_014760.3	198	tcG/tcA	0																																																																																																																																																																																																																																												
TAX1BP3	30851	broad.mit.edu	GRCh37	17	3567085	3567085	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0152-01	TCGA-06-0152-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000225525.3:c.332G>A	p.Arg111Gln	p.R111Q	ENST00000225525	NM_014604.3	111	cGg/cAg	0			1			T	R/Q	uc002fwc.2	protein_coding	YES	CCDS11032.1			332/375										0	c.(331-333)CGG>CAG			Gene3D:2.30.42.10,PIRSF_domain:PIRSF037712,PROSITE_profiles:PS50106,hmmpanther:PTHR23136,SMART_domains:SM00228,Superfamily_domains:SSF50156	Tax1 binding protein 3				ENSP00000225525		4-Apr	8.25E-06							6.59E-05	rs747198869,COSM3402813	4-Apr	.		ENST00000225525	Transcript			activation of Cdc42 GTPase activity|negative regulation of protein localization at cell surface|negative regulation of Wnt receptor signaling pathway|Rho protein signal transduction|Wnt receptor signaling pathway	cytoplasm|nucleus	protein C-terminus binding	ENSG00000213977	g.chr17:3567085C>T	30684			MODERATE		2.005	medium	getma.org/?cm=msa&ty=f&p=TX1B3_HUMAN&rb=15&re=112&var=R111Q	getma.org/pdb.php?prot=TX1B3_HUMAN&from=15&to=112&var=R111Q	getma.org/?cm=var&var=hg19,17,3567085,C,T&fts=all	R111Q	--	--	1																																		P2RX5_uc002fwd.2_RNA|TAX1BP3_uc002fwe.1_3'UTR	0,1	1		benign(0.14)	p.R111Q	NM_014604	NP_055419		deleterious(0.04)	0,1	TX1B3_HUMAN	TAX1BP3	HGNC	O14907	TX1B3_HUMAN		COAD - Colon adenocarcinoma(5;0.0761)			4	485	-			UPI000006E07B	111			PDZ.		SNV	TAX1BP3,missense_variant,p.Arg111Gln,ENST00000225525,NM_014604.3;CTNS,downstream_gene_variant,,ENST00000046640,NM_004937.2;CTNS,downstream_gene_variant,,ENST00000381870,NM_001031681.2;CTNS,downstream_gene_variant,,ENST00000441220,;CTNS,downstream_gene_variant,,ENST00000414524,;P2RX5-TAX1BP3,3_prime_UTR_variant,,ENST00000550383,;RP11-48B14.1,upstream_gene_variant,,ENST00000486753,;	uc002fwc.2	c.332G>A	488/1377	2	2			c.332G>A						17	SNP	c.(331-333)CGG>CAG	32	32				0	Broad	Tax1 binding protein 3			3567085		0.647	ENSG00000213977	15356	g.chr17:3567085C>T	activation of Cdc42 GTPase activity|negative regulation of protein localization at cell surface|negative regulation of Wnt receptor signaling pathway|Rho protein signal transduction|Wnt receptor signaling pathway	cytoplasm|nucleus	protein C-terminus binding							10.619958	KEEP	1	3	-1	11	5	1	3	-1	11.181596	11	5	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	T			P2RX5_uc002fwd.2_RNA|TAX1BP3_uc002fwe.1_3'UTR	25	GBM-06-0152-TP	p.R111Q	C	CAGCGACTGCCGCGTCACCAG	NM_014604	NP_055419	3567085	O14907	TX1B3_HUMAN	0		COAD - Colon adenocarcinoma(5;0.0761)	4	485	-	T	T			Missense_Mutation	111			PDZ.			
TBC1D10C	0	broad.mit.edu	GRCh37	11	67177159	67177159	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-19-2624-01	TCGA-19-2624-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000542590.1:c.1281delC	p.Ile428SerfsTer?	p.I428Sfs*?	ENST00000542590		425	ggC/gg	0			1			-	G/X	uc001ola.2	protein_coding		CCDS8162.1			1275/1341										0	c.(1273-1275)GGCfs			hmmpanther:PTHR22957:SF264,hmmpanther:PTHR22957	TBC1 domain family, member 10C				ENSP00000443654		9-Sep									rs779901861	9-Sep	.		ENST00000542590	Transcript				intracellular	Rab GTPase activator activity	ENSG00000175463	g.chr11:67177159delC	24702	6		HIGH								--	--	1																																		PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.2_3'UTR|TBC1D10C_uc001olb.2_RNA					p.G425fs	NM_198517	NP_940919				TB10C_HUMAN	TBC1D10C	HGNC	Q8IV04	TB10C_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)				10	1304	+			UPI00000746CA	425			Interaction with calcineurin.		deletion	TBC1D10C,frameshift_variant,p.Ile428SerfsTer126,ENST00000312390,NM_198517.3;TBC1D10C,frameshift_variant,p.Ile428SerfsTer?,ENST00000542590,;TBC1D10C,3_prime_UTR_variant,,ENST00000526387,NM_001256508.1;PPP1CA,intron_variant,,ENST00000542876,;PPP1CA,intron_variant,,ENST00000546202,;PPP1CA,upstream_gene_variant,,ENST00000537694,;TBC1D10C,3_prime_UTR_variant,,ENST00000529635,;TBC1D10C,non_coding_transcript_exon_variant,,ENST00000526474,;TBC1D10C,intron_variant,,ENST00000524662,;TBC1D10C,downstream_gene_variant,,ENST00000530967,;TBC1D10C,downstream_gene_variant,,ENST00000529132,;TBC1D10C,downstream_gene_variant,,ENST00000533745,;	uc001ola.2	c.1275delC	1289/1659	5	5			c.1275delC						11	DEL	c.(1273-1275)GGCfs	35	35				0	Broad	TBC1 domain family, member 10C			67177159		0.682	ENSG00000175463	15361	g.chr11:67177159delC		intracellular	Rab GTPase activator activity																				0.47	1	1	0	1	0	0	0	0	0	--	--		0	-			PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.2_3'UTR|TBC1D10C_uc001olb.2_RNA	164	GBM-19-2624-TP	p.G425fs	C	GGGCCCGGGGCCCCCCCATCG	NM_198517	NP_940919	67177159	Q8IV04	TB10C_HUMAN	0	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		10	1304	+	-	-			Frame_Shift_Del	425			Interaction with calcineurin.			
TBC1D16	0	broad.mit.edu	GRCh37	17	77915925	77915925	+	synonymous_variant	Silent	SNP	C	C	T	rs149251119	byFrequency	TCGA-27-1834-01	TCGA-27-1834-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310924.2:c.1989G>A	p.Thr663=	p.T663=	ENST00000310924	NM_019020.3	663	acG/acA	0	T:0		1			T	T	uc002jxj.2	protein_coding	YES	CCDS11766.1			1989/2304										0	c.(1987-1989)ACG>ACA			hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF191,Superfamily_domains:SSF47923	TBC1 domain family, member 16			T:0.0006	ENSP00000309794		12-Nov	0.000173				0.000474	0.000271		0.000221	rs149251119,COSM3403341	12-Nov	common_variant		ENST00000310924	Transcript		G:0.0008		intracellular	Rab GTPase activator activity	ENSG00000167291	g.chr17:77915925C>T	28356			LOW								--	--	1																																		TBC1D16_uc002jxh.2_Silent_p.T301T|TBC1D16_uc002jxi.2_Silent_p.T288T	0,1	1			p.T663T	NM_019020	NP_061893			0,1	TBC16_HUMAN	TBC1D16	HGNC	Q8TBP0	TBC16_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)		I3L0U9_HUMAN,B9A6L7_HUMAN		11	2105	-	all_neural(118;0.167)		UPI000006DDA6	663					SNV	TBC1D16,synonymous_variant,p.=,ENST00000310924,NM_019020.3;TBC1D16,synonymous_variant,p.=,ENST00000576768,NM_001271844.1,NM_001271845.1;TBC1D16,synonymous_variant,p.=,ENST00000340848,;TBC1D16,downstream_gene_variant,,ENST00000572862,NM_001271846.1;TBC1D16,downstream_gene_variant,,ENST00000570373,;AC100791.1,upstream_gene_variant,,ENST00000327910,;	uc002jxj.2	c.1989G>A	2105/10936	2	2			c.1989G>A						17	SNP	c.(1987-1989)ACG>ACA	47	47				0	Broad	TBC1 domain family, member 16			77915925		0.622	ENSG00000167291	15366	g.chr17:77915925C>T		intracellular	Rab GTPase activator activity	Ovarian(14;397 562 4850 31922 49378)			Ovarian(14;397 562 4850 31922 49378)			34.821211	KEEP	8	7	-1	11	8	8	7	-1	35.023112	11	8	0.407407	1	0	0	0	0	0	0	1	0	--	--		0	T			TBC1D16_uc002jxh.2_Silent_p.T301T|TBC1D16_uc002jxi.2_Silent_p.T288T	193	GBM-27-1834-TP	p.T663T	C	GCATCTGGTCCGTGGCCAGCT	NM_019020	NP_061893	77915925	Q8TBP0	TBC16_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)		11	2105	-	T	T	all_neural(118;0.167)		Silent	663						
TBC1D17	0	broad.mit.edu	GRCh37	19	50387771	50387771	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-5220-01	TCGA-28-5220-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221543.5:c.1299C>T	p.Asn433=	p.N433=	ENST00000221543	NM_024682.2	433	aaC/aaT	0			1			T	N	uc002pqo.2	protein_coding	YES	CCDS12785.1			1299/1947										0	c.(1297-1299)AAC>AAT			Gene3D:2qq8A02,Pfam_domain:PF00566,PROSITE_profiles:PS50086,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF228,SMART_domains:SM00164,Superfamily_domains:SSF47923	TBC1 domain family, member 17				ENSP00000221543		17-Dec	2.47E-05		8.64E-05			3.00E-05			rs201269112,COSM3404469	17-Dec	.		ENST00000221543	Transcript				intracellular	Rab GTPase activator activity	ENSG00000104946	g.chr19:50387771C>T	25699			LOW								--	--	1																																		TBC1D17_uc010ybg.1_Silent_p.N400N|TBC1D17_uc002pqp.2_Silent_p.N84N|TBC1D17_uc002pqq.1_RNA|TBC1D17_uc002pqr.2_Silent_p.N84N|TBC1D17_uc002pqs.2_RNA	0,1	1			p.N433N	NM_024682	NP_078958			0,1	TBC17_HUMAN	TBC1D17	HGNC	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	Q96RQ7_HUMAN		12	1451	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	UPI000013C7D2	433			Rab-GAP TBC.		SNV	TBC1D17,synonymous_variant,p.=,ENST00000221543,NM_024682.2;TBC1D17,synonymous_variant,p.=,ENST00000535102,NM_001168222.1;TBC1D17,synonymous_variant,p.=,ENST00000599049,;MIR4750,upstream_gene_variant,,ENST00000584564,;TBC1D17,downstream_gene_variant,,ENST00000598789,;TBC1D17,synonymous_variant,p.=,ENST00000594984,;TBC1D17,non_coding_transcript_exon_variant,,ENST00000596243,;TBC1D17,upstream_gene_variant,,ENST00000600354,;TBC1D17,downstream_gene_variant,,ENST00000594996,;	uc002pqo.2	c.1299C>T	1598/2366	2	2			c.1299C>T						19	SNP	c.(1297-1299)AAC>AAT	25	25				0	Broad	TBC1 domain family, member 17			50387771		0.607	ENSG00000104946	15367	g.chr19:50387771C>T		intracellular	Rab GTPase activator activity							290.389714	KEEP	67	46	-1	70	81	67	46	-1	291.416808	70	81	0.428571	1	0	0	0	0	0	0	1	0	--	--		0	T			TBC1D17_uc010ybg.1_Silent_p.N400N|TBC1D17_uc002pqp.2_Silent_p.N84N|TBC1D17_uc002pqq.1_RNA|TBC1D17_uc002pqr.2_Silent_p.N84N|TBC1D17_uc002pqs.2_RNA	226	GBM-28-5220-TP	p.N433N	C	TCATTCAGAACGAGGTGGATG	NM_024682	NP_078958	50387771	Q9HA65	TBC17_HUMAN	0		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	12	1451	+	T	T		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	Silent	433			Rab-GAP TBC.			
TBC1D2	55357	broad.mit.edu	GRCh37	9	101014108	101014108	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5411-01	TCGA-06-5411-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375066.5:c.470C>T	p.Ala157Val	p.A157V	ENST00000375066	NM_018421.3	157	gCc/gTc	0			1			A		uc011lvb.1	processed_transcript														ovary(3)	3	c.(469-471)GCC>GTC				TBC1 domain family, member 2															COSM3413193		.		ENST00000465784	Transcript				cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	ENSG00000095383	g.chr9:101014108G>A	18026			MODIFIER	3-Jan	1.87	low	getma.org/?cm=msa&ty=f&p=TBD2A_HUMAN&rb=141&re=588&var=A157V	NA	getma.org/?cm=var&var=hg19,9,101014108,G,A&fts=all	A157V	--	--	1																																		TBC1D2_uc004ayq.2_Missense_Mutation_p.A157V|TBC1D2_uc004ayr.2_Intron|TBC1D2_uc004ayo.3_Missense_Mutation_p.A157V	1				p.A157V	NM_018421	NP_060891			1		TBC1D2	HGNC	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)			2	650	-		Myeloproliferative disorder(762;0.0255)		157			Interaction with CADH1.		SNV	TBC1D2,missense_variant,p.Ala157Val,ENST00000375066,NM_018421.3;TBC1D2,missense_variant,p.Ala157Val,ENST00000375064,NM_001267571.1;TBC1D2,intron_variant,,ENST00000342112,;TBC1D2,intron_variant,,ENST00000465784,;	uc011lvb.1	c.470C>T	-/730	2	2			c.470C>T						9	SNP	c.(469-471)GCC>GTC	34	34			ovary(3)	3	Broad	TBC1 domain family, member 2			101014108		0.637	ENSG00000095383	15369	g.chr9:101014108G>A		cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity							-33.606789	KEEP	3	2	-1	93	91	3	2	-1	6.401285	93	91	0.025	1	0	0	0	0	1	0	0	0	--	--		0	A			TBC1D2_uc004ayq.2_Missense_Mutation_p.A157V|TBC1D2_uc004ayr.2_Intron|TBC1D2_uc004ayo.3_Missense_Mutation_p.A157V	94	GBM-06-5411-TP	p.A157V	G	AGCCAGGGCGGCATCAGGGGT	NM_018421	NP_060891	101014108	Q9BYX2	TBD2A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	2	650	-	A	A		Myeloproliferative disorder(762;0.0255)	Missense_Mutation	157			Interaction with CADH1.			
TBC1D2	0	broad.mit.edu	GRCh37	9	101017509	101017509	+	intron_variant,non_coding_transcript_variant	Intron	SNP	G	G	C			TCGA-19-2625-01	TCGA-19-2625-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000465784.2:n.368+32C>G		*123*	ENST00000465784				0			1			C		uc011lvb.1	processed_transcript														ovary(3)	3	c.(313-315)GAC>GAG				TBC1 domain family, member 2															COSM3413194		.		ENST00000465784	Transcript				cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	ENSG00000095383	g.chr9:101017509G>C	18026			MODIFIER	3-Jan	-0.695	neutral	getma.org/?cm=msa&ty=f&p=TBD2A_HUMAN&rb=45&re=142&var=D105E	getma.org/pdb.php?prot=TBD2A_HUMAN&from=45&to=142&var=D105E	getma.org/?cm=var&var=hg19,9,101017509,G,C&fts=all	D105E	--	--	1																																		TBC1D2_uc004ayq.2_Missense_Mutation_p.D105E|TBC1D2_uc004ayr.2_5'UTR|TBC1D2_uc004ayo.3_Missense_Mutation_p.D105E	1				p.D105E	NM_018421	NP_060891			1		TBC1D2	HGNC	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)			1	495	-		Myeloproliferative disorder(762;0.0255)		105			PH.|Interaction with CADH1.		SNV	TBC1D2,missense_variant,p.Asp105Glu,ENST00000375066,NM_018421.3;TBC1D2,missense_variant,p.Asp105Glu,ENST00000375064,NM_001267571.1;TBC1D2,5_prime_UTR_variant,,ENST00000342112,;TBC1D2,intron_variant,,ENST00000465784,;	uc011lvb.1	c.315C>G	-/730	3	3			c.315C>G						9	SNP	c.(313-315)GAC>GAG	1	1			ovary(3)	3	Broad	TBC1 domain family, member 2			101017509		0.537	ENSG00000095383	15369	g.chr9:101017509G>C		cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity							30.424773	KEEP	6	7	-1	44	33	6	7	-1	40.902043	44	33	0.147727	1	0	0	0	0	1	0	0	0	--	--		0	C			TBC1D2_uc004ayq.2_Missense_Mutation_p.D105E|TBC1D2_uc004ayr.2_5'UTR|TBC1D2_uc004ayo.3_Missense_Mutation_p.D105E	165	GBM-19-2625-TP	p.D105E	G	CCTCCTCAGCGTCCGCCTTAC	NM_018421	NP_060891	101017509	Q9BYX2	TBD2A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	1	495	-	C	C		Myeloproliferative disorder(762;0.0255)	Missense_Mutation	105			PH.|Interaction with CADH1.			
TBC1D2	55357	broad.mit.edu	GRCh37	9	100971301	100971301	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01	TCGA-19-5958-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375066.5:c.1799G>A	p.Arg600Gln	p.R600Q	ENST00000375066	NM_018421.3	600	cGg/cAg	0			1			T		uc011lvb.1	processed_transcript														ovary(3)	3	c.(1798-1800)CGG>CAG	1643			TBC1 domain family, member 2							8.24E-06					1.51E-05			rs769803981,COSM2156832,COSM2156833		.		ENST00000465784	Transcript				cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	ENSG00000095383	g.chr9:100971301C>T	18026			MODIFIER		1.61	low	getma.org/?cm=msa&ty=f&p=TBD2A_HUMAN&rb=589&re=627&var=R600Q	NA	getma.org/?cm=var&var=hg19,9,100971301,C,T&fts=all	R600Q	--	--	1																																		TBC1D2_uc004ayp.2_Missense_Mutation_p.R140Q|TBC1D2_uc004ayq.2_Missense_Mutation_p.R600Q|TBC1D2_uc004ayr.2_Missense_Mutation_p.R382Q|TBC1D2_uc004ayo.3_Missense_Mutation_p.R600Q	0,1,1				p.R600Q	NM_018421	NP_060891			0,1,1		TBC1D2	HGNC	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)			9	1979	-		Myeloproliferative disorder(762;0.0255)		600					SNV	TBC1D2,missense_variant,p.Arg600Gln,ENST00000375066,NM_018421.3;TBC1D2,missense_variant,p.Arg600Gln,ENST00000375064,NM_001267571.1;TBC1D2,missense_variant,p.Arg382Gln,ENST00000342112,;TBC1D2,missense_variant,p.Arg140Gln,ENST00000375063,NM_001267572.1;TBC1D2,non_coding_transcript_exon_variant,,ENST00000493589,;TBC1D2,downstream_gene_variant,,ENST00000465784,;	uc011lvb.1	c.1799G>A	-/730	2	2			c.1799G>A						9	SNP	c.(1798-1800)CGG>CAG	33	33			ovary(3)	3	Broad	TBC1 domain family, member 2			100971301		0.652	ENSG00000095383	15369	g.chr9:100971301C>T		cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity							217.771951	KEEP	34	41	-1	62	77	34	41	-1	221.698509	62	77	0.351485	1	0	0	0	0	1	0	0	0	--	--		0	T			TBC1D2_uc004ayp.2_Missense_Mutation_p.R140Q|TBC1D2_uc004ayq.2_Missense_Mutation_p.R600Q|TBC1D2_uc004ayr.2_Missense_Mutation_p.R382Q|TBC1D2_uc004ayo.3_Missense_Mutation_p.R600Q	176	GBM-19-5958-TP	p.R600Q	C	CCTCAGCGGCCGATCCACAGC	NM_018421	NP_060891	100971301	Q9BYX2	TBD2A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	9	1979	-	T	T		Myeloproliferative disorder(762;0.0255)	Missense_Mutation	600						
TBC1D22A	25771	broad.mit.edu	GRCh37	22	47189513	47189513	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01	TCGA-06-0878-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337137.4:c.235G>A	p.Asp79Asn	p.D79N	ENST00000337137	NM_014346.2	79	Gat/Aat	0			1			A	D/N	uc003bib.2	protein_coding	YES	CCDS14078.1			235/1554									ovary(1)	1	c.(235-237)GAT>AAT			hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF255	TBC1 domain family, member 22A				ENSP00000336724		13-Mar	8.24E-06	9.71E-05							rs753108605,COSM3405723,COSM3405724	13-Mar	.		ENST00000337137	Transcript				intracellular	protein homodimerization activity|Rab GTPase activator activity	ENSG00000054611	g.chr22:47189513G>A	1309			MODERATE		2.32	medium	getma.org/?cm=msa&ty=f&p=TB22A_HUMAN&rb=1&re=109&var=D79N	NA	getma.org/?cm=var&var=hg19,22,47189513,G,A&fts=all	D79N	--	--	1																																		TBC1D22A_uc010haf.2_Missense_Mutation_p.D49N|TBC1D22A_uc003bic.2_Missense_Mutation_p.D79N|TBC1D22A_uc003bie.2_Missense_Mutation_p.D60N|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.D32N	0,1,1	1		possibly_damaging(0.703)	p.D79N	NM_014346	NP_055161		deleterious(0.04)	0,1,1	TB22A_HUMAN	TBC1D22A	HGNC	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	B9A6M3_HUMAN,B0QYI3_HUMAN		3	370	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	UPI0000128722	79					SNV	TBC1D22A,missense_variant,p.Asp79Asn,ENST00000337137,NM_014346.2,NM_001284304.1;TBC1D22A,missense_variant,p.Asp32Asn,ENST00000406733,NM_001284305.1;TBC1D22A,missense_variant,p.Asp79Asn,ENST00000407381,;TBC1D22A,missense_variant,p.Asp60Asn,ENST00000355704,NM_001284303.1;TBC1D22A,missense_variant,p.Asp32Asn,ENST00000380995,;TBC1D22A,non_coding_transcript_exon_variant,,ENST00000472791,;TBC1D22A,non_coding_transcript_exon_variant,,ENST00000496139,;TBC1D22A,non_coding_transcript_exon_variant,,ENST00000486163,;TBC1D22A,missense_variant,p.Asp32Asn,ENST00000441162,;TBC1D22A,missense_variant,p.Asp79Asn,ENST00000394449,;TBC1D22A,3_prime_UTR_variant,,ENST00000441936,;	uc003bib.2	c.235G>A	401/3787	2	2			c.235G>A						22	SNP	c.(235-237)GAT>AAT	21	21			ovary(1)	1	Broad	TBC1 domain family, member 22A			47189513		0.647	ENSG00000054611	15372	g.chr22:47189513G>A		intracellular	protein homodimerization activity|Rab GTPase activator activity							-2.716077	KEEP	2	5	-1	37	46	2	5	-1	12.913838	37	46	0.072289	1	0	0	0	0	1	0	0	0	--	--		0	A			TBC1D22A_uc010haf.2_Missense_Mutation_p.D49N|TBC1D22A_uc003bic.2_Missense_Mutation_p.D79N|TBC1D22A_uc003bie.2_Missense_Mutation_p.D60N|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.D32N	74	GBM-06-0878-TP	p.D79N	G	GGAGGACGACGATGAGCTCCT	NM_014346	NP_055161	47189513	Q8WUA7	TB22A_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	3	370	+	A	A		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	Missense_Mutation	79						
TBC1D22A	0	broad.mit.edu	GRCh37	22	47507479	47507479	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-28-2513-01	TCGA-28-2513-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337137.4:c.1405C>G	p.Leu469Val	p.L469V	ENST00000337137	NM_014346.2	469	Cta/Gta	0			1			G	L/V	uc003bib.2	protein_coding	YES	CCDS14078.1			1405/1554									ovary(1)	1	c.(1405-1407)CTA>GTA			Superfamily_domains:SSF47923,SMART_domains:SM00164,hmmpanther:PTHR22957,Pfam_domain:PF00566,hmmpanther:PTHR22957:SF255	TBC1 domain family, member 22A				ENSP00000336724		13-Dec									COSM3405725	13-Dec	.		ENST00000337137	Transcript				intracellular	protein homodimerization activity|Rab GTPase activator activity	ENSG00000054611	g.chr22:47507479C>G	1309			MODERATE		3.04	medium	getma.org/?cm=msa&ty=f&p=TB22A_HUMAN&rb=225&re=469&var=L469V	getma.org/pdb.php?prot=TB22A_HUMAN&from=225&to=469&var=L469V	getma.org/?cm=var&var=hg19,22,47507479,C,G&fts=all	L469V	--	--	1																																		TBC1D22A_uc010haf.2_Missense_Mutation_p.L439V|TBC1D22A_uc003bic.2_Missense_Mutation_p.L410V|TBC1D22A_uc003bie.2_Missense_Mutation_p.L391V|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.L422V	1	1		probably_damaging(0.998)	p.L469V	NM_014346	NP_055161		deleterious(0)	1	TB22A_HUMAN	TBC1D22A	HGNC	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	B9A6M3_HUMAN,B0QYI3_HUMAN		12	1540	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	UPI0000128722	469					SNV	TBC1D22A,missense_variant,p.Leu469Val,ENST00000337137,NM_014346.2,NM_001284304.1;TBC1D22A,missense_variant,p.Leu422Val,ENST00000406733,NM_001284305.1;TBC1D22A,missense_variant,p.Leu410Val,ENST00000407381,;TBC1D22A,missense_variant,p.Leu391Val,ENST00000355704,NM_001284303.1;TBC1D22A,3_prime_UTR_variant,,ENST00000441162,;TBC1D22A,3_prime_UTR_variant,,ENST00000394449,;	uc003bib.2	c.1405C>G	1571/3787	3	3			c.1405C>G						22	SNP	c.(1405-1407)CTA>GTA	16	16			ovary(1)	1	Broad	TBC1 domain family, member 22A			47507479		0.368	ENSG00000054611	15372	g.chr22:47507479C>G		intracellular	protein homodimerization activity|Rab GTPase activator activity							-19.575063	KEEP	1	2	-1	50	68	1	2	-1	6.405915	50	68	0.028302	1	0	0	0	0	1	0	0	0	--	--		0	G			TBC1D22A_uc010haf.2_Missense_Mutation_p.L439V|TBC1D22A_uc003bic.2_Missense_Mutation_p.L410V|TBC1D22A_uc003bie.2_Missense_Mutation_p.L391V|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.L422V	213	GBM-28-2513-TP	p.L469V	C	GAAGGAAATACTAGAAGAAAA	NM_014346	NP_055161	47507479	Q8WUA7	TB22A_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	12	1540	+	G	G		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	Missense_Mutation	469						
TBC1D23	0	broad.mit.edu	GRCh37	3	100002647	100002648	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-32-2632-01	TCGA-32-2632-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394144.4:c.469dupA	p.Ile157AsnfsTer23	p.I157Nfs*23	ENST00000394144	NM_001199198.2	156	-/A	0			1			A	-/X	uc003dtt.2	protein_coding	YES	CCDS56265.1			468-469/2100									ovary(1)|liver(1)	2	c.(466-471)TACATTfs			PROSITE_profiles:PS50086,hmmpanther:PTHR13297,Pfam_domain:PF00566,SMART_domains:SM00164,Superfamily_domains:SSF47923	TBC1 domain family, member 23				ENSP00000377700		19-Apr										19-Apr	.		ENST00000394144	Transcript				intracellular	Rab GTPase activator activity	ENSG00000036054	g.chr3:100002647_100002648insA	25622	1		HIGH								--	--	1																																		TBC1D23_uc003dts.2_Frame_Shift_Ins_p.Y156fs		1			p.Y156fs	NM_018309	NP_060779				TBC23_HUMAN	TBC1D23	HGNC	Q9NUY8	TBC23_HUMAN			B3KS68_HUMAN		4	645_646	+			UPI000013D5E5	156_157			Rab-GAP TBC.		insertion	TBC1D23,frameshift_variant,p.Ile157AsnfsTer23,ENST00000394144,NM_001199198.2;TBC1D23,frameshift_variant,p.Ile157AsnfsTer23,ENST00000344949,NM_018309.4;TBC1D23,frameshift_variant,p.Ile165AsnfsTer23,ENST00000485687,;TBC1D23,frameshift_variant,p.Ile143AsnfsTer23,ENST00000471098,;TBC1D23,intron_variant,,ENST00000475134,;TBC1D23,non_coding_transcript_exon_variant,,ENST00000486274,;TBC1D23,non_coding_transcript_exon_variant,,ENST00000484231,;	uc003dtt.2	c.468_469insA	475-476/3677	5	5			c.468_469insA						3	INS	c.(466-471)TACATTfs	9	9			ovary(1)|liver(1)	2	Broad	TBC1 domain family, member 23			100002648		0.381	ENSG00000036054	15374	g.chr3:100002647_100002648insA		intracellular	Rab GTPase activator activity																				0.35	1	0	0	1	1	0	0	0	0	--	--		0	A			TBC1D23_uc003dts.2_Frame_Shift_Ins_p.Y156fs	240	GBM-32-2632-TP	p.Y156fs	-	TGAATAAGTACATTCCCAGGTA	NM_018309	NP_060779	100002647	Q9NUY8	TBC23_HUMAN	0			4	645_646	+	A	A			Frame_Shift_Ins	156_157			Rab-GAP TBC.			
TBC1D31	0	broad.mit.edu	GRCh37	8	124140520	124140521	+	frameshift_variant,splice_region_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-06-6698-01	TCGA-06-6698-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000287380.1:c.1893dupT	p.His632SerfsTer5	p.H632Sfs*5	ENST00000287380	NM_145647.3	628	-/T	0	T:0.0014		1			T	-/X	uc003ypp.1	protein_coding	YES	CCDS6338.1			1884-1885/3201									skin(1)	1	c.e14-1			hmmpanther:PTHR19853,hmmpanther:PTHR19853:SF1,Superfamily_domains:SSF47923	WD repeat domain 67 isoform 1			T:0.001	ENSP00000287380											rs774119002		.		ENST00000287380	Transcript				centrosome	Rab GTPase activator activity	ENSG00000156787	g.chr8:124140520_124140521insT	30888	9		HIGH								--	--	1																																		WDR67_uc011lig.1_Splice_Site_p.F629_splice|WDR67_uc011lih.1_Splice_Site_p.F519_splice|WDR67_uc003ypq.1_Splice_Site|WDR67_uc003yps.1_Intron|WDR67_uc003ypt.1_Splice_Site_p.F86_splice|WDR67_uc003ypu.1_Splice_Site_p.F86_splice		1			p.F629_splice	NM_145647	NP_663622				TBC31_HUMAN	TBC1D31	HGNC	Q96DN5	WDR67_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		E5RG45_HUMAN		14	1975	+	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		UPI000013DEAB						insertion	TBC1D31,frameshift_variant,p.His632SerfsTer5,ENST00000287380,NM_145647.3;TBC1D31,frameshift_variant,p.His632SerfsTer5,ENST00000309336,;TBC1D31,frameshift_variant,p.His509SerfsTer5,ENST00000521676,;TBC1D31,frameshift_variant,p.His527SerfsTer5,ENST00000522420,;TBC1D31,frameshift_variant,p.His527SerfsTer5,ENST00000378080,;TBC1D31,frameshift_variant,p.His632SerfsTer5,ENST00000327098,NM_001145088.1;TBC1D31,intron_variant,,ENST00000518805,;TBC1D31,splice_region_variant,,ENST00000524307,;TBC1D31,splice_region_variant,,ENST00000518577,;TBC1D31,non_coding_transcript_exon_variant,,ENST00000518866,;HMGB1P19,downstream_gene_variant,,ENST00000517578,;	uc003ypp.1	c.1885_splice	1974-1975/3502	5	5			c.1885_splice						8	INS	c.e14-1	44	44			skin(1)	1	Broad	WD repeat domain 67 isoform 1			124140521		0.322	ENSG00000156787	17062	g.chr8:124140520_124140521insT		centrosome	Rab GTPase activator activity																				0.09	1	0	0	1	1	0	0	0	1	--	--		0	T			WDR67_uc011lig.1_Splice_Site_p.F629_splice|WDR67_uc011lih.1_Splice_Site_p.F519_splice|WDR67_uc003ypq.1_Splice_Site|WDR67_uc003yps.1_Intron|WDR67_uc003ypt.1_Splice_Site_p.F86_splice|WDR67_uc003ypu.1_Splice_Site_p.F86_splice	112	GBM-06-6698-TP	p.F629_splice	-	TTTTCTTACAGTTTTTTTTTCA	NM_145647	NP_663622	124140520	Q96DN5	WDR67_HUMAN	0	STAD - Stomach adenocarcinoma(47;0.00527)		14	1975	+	T	T	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		Splice_Site							
TBC1D31	0	broad.mit.edu	GRCh37	8	124109565	124109565	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0787-01	TCGA-14-0787-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000287380.1:c.715C>T	p.His239Tyr	p.H239Y	ENST00000287380	NM_145647.3	239	Cat/Tat	0			1			T	H/Y	uc003ypp.1	protein_coding	YES	CCDS6338.1			715/3201									skin(1)	1	c.(715-717)CAT>TAT			PROSITE_profiles:PS50294,hmmpanther:PTHR19853,hmmpanther:PTHR19853:SF1,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	WD repeat domain 67 isoform 1				ENSP00000287380		22-Jun									COSM3412735	22-Jun	.		ENST00000287380	Transcript				centrosome	Rab GTPase activator activity	ENSG00000156787	g.chr8:124109565C>T	30888			MODERATE		2.42	medium	getma.org/?cm=msa&ty=f&p=WDR67_HUMAN&rb=154&re=353&var=H239Y	getma.org/pdb.php?prot=WDR67_HUMAN&from=154&to=353&var=H239Y	getma.org/?cm=var&var=hg19,8,124109565,C,T&fts=all	H239Y	--	--	1																																		WDR67_uc011lig.1_Missense_Mutation_p.H239Y|WDR67_uc011lih.1_Missense_Mutation_p.H129Y|WDR67_uc003ypq.1_RNA|WDR67_uc003ypo.1_Missense_Mutation_p.H239Y|WDR67_uc003ypr.2_RNA	1	1		benign(0.021)	p.H239Y	NM_145647	NP_663622		tolerated(0.16)	1	TBC31_HUMAN	TBC1D31	HGNC	Q96DN5	WDR67_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		E5RG45_HUMAN		6	805	+	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		UPI000013DEAB	239			WD 4.		SNV	TBC1D31,missense_variant,p.His239Tyr,ENST00000287380,NM_145647.3;TBC1D31,missense_variant,p.His239Tyr,ENST00000309336,;TBC1D31,missense_variant,p.His134Tyr,ENST00000521676,;TBC1D31,missense_variant,p.His134Tyr,ENST00000522420,;TBC1D31,missense_variant,p.His134Tyr,ENST00000378080,;TBC1D31,missense_variant,p.His239Tyr,ENST00000327098,NM_001145088.1;TBC1D31,missense_variant,p.His43Tyr,ENST00000521914,;TBC1D31,missense_variant,p.His229Tyr,ENST00000522276,;TBC1D31,intron_variant,,ENST00000519418,;TBC1D31,upstream_gene_variant,,ENST00000518805,;TBC1D31,downstream_gene_variant,,ENST00000518684,;TBC1D31,3_prime_UTR_variant,,ENST00000524307,;TBC1D31,non_coding_transcript_exon_variant,,ENST00000521980,;TBC1D31,non_coding_transcript_exon_variant,,ENST00000518099,;	uc003ypp.1	c.715C>T	805/3502	2	2			c.715C>T						8	SNP	c.(715-717)CAT>TAT	24	24			skin(1)	1	Broad	WD repeat domain 67 isoform 1			124109565		0.398	ENSG00000156787	17062	g.chr8:124109565C>T		centrosome	Rab GTPase activator activity							153.087661	KEEP	31	29	-1	64	47	31	29	-1	155.473563	64	47	0.364865	1	0	0	0	0	1	0	0	0	--	--		0	T			WDR67_uc011lig.1_Missense_Mutation_p.H239Y|WDR67_uc011lih.1_Missense_Mutation_p.H129Y|WDR67_uc003ypq.1_RNA|WDR67_uc003ypo.1_Missense_Mutation_p.H239Y|WDR67_uc003ypr.2_RNA	135	GBM-14-0787-TP	p.H239Y	C	AAATCATCTTCATTTGTGGTG	NM_145647	NP_663622	124109565	Q96DN5	WDR67_HUMAN	0	STAD - Stomach adenocarcinoma(47;0.00527)		6	805	+	T	T	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		Missense_Mutation	239			WD 4.			
TBC1D31	0	broad.mit.edu	GRCh37	8	124113069	124113069	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-5951-01	TCGA-19-5951-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000287380.1:c.854A>G	p.Asp285Gly	p.D285G	ENST00000287380	NM_145647.3	285	gAt/gGt	0			1			G	D/G	uc003ypp.1	protein_coding	YES	CCDS6338.1			854/3201									skin(1)	1	c.(853-855)GAT>GGT			PROSITE_profiles:PS50294,hmmpanther:PTHR19853,hmmpanther:PTHR19853:SF1,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	WD repeat domain 67 isoform 1				ENSP00000287380		22-Jul									COSM2156600	22-Jul	.		ENST00000287380	Transcript				centrosome	Rab GTPase activator activity	ENSG00000156787	g.chr8:124113069A>G	30888			MODERATE		2.71	medium	getma.org/?cm=msa&ty=f&p=WDR67_HUMAN&rb=154&re=353&var=D285G	getma.org/pdb.php?prot=WDR67_HUMAN&from=154&to=353&var=D285G	getma.org/?cm=var&var=hg19,8,124113069,A,G&fts=all	D285G	--	--	1																																		WDR67_uc011lig.1_Missense_Mutation_p.D285G|WDR67_uc011lih.1_Missense_Mutation_p.D175G|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_5'UTR|WDR67_uc003ypo.1_Missense_Mutation_p.D285G|WDR67_uc003ypr.2_RNA	1	1		probably_damaging(0.946)	p.D285G	NM_145647	NP_663622		deleterious(0)	1	TBC31_HUMAN	TBC1D31	HGNC	Q96DN5	WDR67_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		E5RG45_HUMAN		7	944	+	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		UPI000013DEAB	285					SNV	TBC1D31,missense_variant,p.Asp285Gly,ENST00000287380,NM_145647.3;TBC1D31,missense_variant,p.Asp285Gly,ENST00000309336,;TBC1D31,missense_variant,p.Asp180Gly,ENST00000521676,;TBC1D31,missense_variant,p.Asp180Gly,ENST00000522420,;TBC1D31,missense_variant,p.Asp180Gly,ENST00000378080,;TBC1D31,missense_variant,p.Asp285Gly,ENST00000327098,NM_001145088.1;TBC1D31,missense_variant,p.Asp89Gly,ENST00000521914,;TBC1D31,intron_variant,,ENST00000519418,;TBC1D31,upstream_gene_variant,,ENST00000518805,;TBC1D31,downstream_gene_variant,,ENST00000522276,;TBC1D31,3_prime_UTR_variant,,ENST00000524307,;TBC1D31,non_coding_transcript_exon_variant,,ENST00000518099,;TBC1D31,downstream_gene_variant,,ENST00000521980,;	uc003ypp.1	c.854A>G	944/3502	3	3			c.854A>G						8	SNP	c.(853-855)GAT>GGT	59	59			skin(1)	1	Broad	WD repeat domain 67 isoform 1			124113069		0.353	ENSG00000156787	17062	g.chr8:124113069A>G		centrosome	Rab GTPase activator activity							84.380033	KEEP	12	14	-1	26	28	12	14	-1	86.149261	26	28	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	G			WDR67_uc011lig.1_Missense_Mutation_p.D285G|WDR67_uc011lih.1_Missense_Mutation_p.D175G|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_5'UTR|WDR67_uc003ypo.1_Missense_Mutation_p.D285G|WDR67_uc003ypr.2_RNA	171	GBM-19-5951-TP	p.D285G	A	CTAAGTCAAGATGGTATTATG	NM_145647	NP_663622	124113069	Q96DN5	WDR67_HUMAN	0	STAD - Stomach adenocarcinoma(47;0.00527)		7	944	+	G	G	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		Missense_Mutation	285						
TBC1D32	221322	broad.mit.edu	GRCh37	6	121642861	121642861	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0173-01	TCGA-06-0173-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398212.2:c.235A>G	p.Thr79Ala	p.T79A	ENST00000398212	NM_152730.4	79	Aca/Gca	0			1			C	T/A	uc003pyo.1	protein_coding	YES	CCDS43501.1			235/3774									central_nervous_system(2)|ovary(1)	3	c.(235-237)ACA>GCA			hmmpanther:PTHR13465,hmmpanther:PTHR13465:SF3,Pfam_domain:PF14961	hypothetical protein LOC221322				ENSP00000381270		Feb-32									COSM2150425	Feb-32	.		ENST00000398212	Transcript			multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	ENSG00000146350	g.chr6:121642861T>C	21485			MODERATE		0.885	low	getma.org/?cm=msa&ty=f&p=BROMI_HUMAN&rb=4&re=1255&var=T79A	NA	getma.org/?cm=var&var=hg19,6,121642861,T,C&fts=all	T79A	--	--	1																																		C6orf170_uc003pyq.1_RNA	1	1		benign(0.007)	p.T79A	NM_152730	NP_689943		tolerated(0.25)	1	BROMI_HUMAN	TBC1D32	HGNC	Q96NH3	BROMI_HUMAN		GBM - Glioblastoma multiforme(226;0.00521)	A2A304_HUMAN		2	303	-			UPI0000E67203	79					SNV	TBC1D32,missense_variant,p.Thr79Ala,ENST00000275159,;TBC1D32,missense_variant,p.Thr79Ala,ENST00000398212,NM_152730.4;TBC1D32,missense_variant,p.Thr79Ala,ENST00000422369,;TBC1D32,missense_variant,p.Thr79Ala,ENST00000464622,;	uc003pyo.1	c.235A>G	285/3824	3	3			c.235A>G						6	SNP	c.(235-237)ACA>GCA	61	61			central_nervous_system(2)|ovary(1)	3	Broad	hypothetical protein LOC221322			121642861		0.368	ENSG00000146350	2296	g.chr6:121642861T>C	multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity							291.554467	KEEP	55	50	-1	89	100	55	50	-1	295.774352	89	100	0.366667	1	0	0	0	0	1	0	0	0	--	--		0	C			C6orf170_uc003pyq.1_RNA	36	GBM-06-0173-TP	p.T79A	T	CGATCAGATGTGCATTTTTCC	NM_152730	NP_689943	121642861	Q96NH3	BROMI_HUMAN	0		GBM - Glioblastoma multiforme(226;0.00521)	2	303	-	C	C			Missense_Mutation	79						
TBC1D32	0	broad.mit.edu	GRCh37	6	121625568	121625568	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1825-01	TCGA-14-1825-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398212.2:c.878G>A	p.Arg293His	p.R293H	ENST00000398212	NM_152730.4	293	cGt/cAt	0	T:0		1			T	R/H	uc003pyo.1	protein_coding	YES	CCDS43501.1			878/3774									central_nervous_system(2)|ovary(1)	3	c.(877-879)CGT>CAT			hmmpanther:PTHR13465,hmmpanther:PTHR13465:SF3,Pfam_domain:PF14961	hypothetical protein LOC221322			T:0.0001	ENSP00000381270		Aug-32	1.66E-05					3.00E-05			rs377465896,COSM3410560	Aug-32	.		ENST00000398212	Transcript			multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	ENSG00000146350	g.chr6:121625568C>T	21485			MODERATE		2.295	medium	getma.org/?cm=msa&ty=f&p=BROMI_HUMAN&rb=4&re=1255&var=R293H	NA	getma.org/?cm=var&var=hg19,6,121625568,C,T&fts=all	R293H	--	--	1																																		C6orf170_uc003pyq.1_RNA	0,1	1		probably_damaging(0.981)	p.R293H	NM_152730	NP_689943		deleterious(0)	0,1	BROMI_HUMAN	TBC1D32	HGNC	Q96NH3	BROMI_HUMAN		GBM - Glioblastoma multiforme(226;0.00521)	A2A304_HUMAN		8	946	-			UPI0000E67203	293					SNV	TBC1D32,missense_variant,p.Arg293His,ENST00000275159,;TBC1D32,missense_variant,p.Arg293His,ENST00000398212,NM_152730.4;TBC1D32,downstream_gene_variant,,ENST00000422369,;TBC1D32,3_prime_UTR_variant,,ENST00000464622,;	uc003pyo.1	c.878G>A	928/3824	2	2			c.878G>A						6	SNP	c.(877-879)CGT>CAT	23	23			central_nervous_system(2)|ovary(1)	3	Broad	hypothetical protein LOC221322			121625568		0.358	ENSG00000146350	2296	g.chr6:121625568C>T	multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity							132.81204	KEEP	29	17	-1	26	28	29	17	-1	132.960451	26	28	0.457447	1	0	0	0	0	1	0	0	0	--	--		0	T			C6orf170_uc003pyq.1_RNA	148	GBM-14-1825-TP	p.R293H	C	ATTTAGAAGACGAACCTACAA	NM_152730	NP_689943	121625568	Q96NH3	BROMI_HUMAN	0		GBM - Glioblastoma multiforme(226;0.00521)	8	946	-	T	T			Missense_Mutation	293						
TBC1D32	0	broad.mit.edu	GRCh37	6	121427228	121427228	+	stop_gained	Nonsense_Mutation	SNP	T	T	A			TCGA-19-5954-01	TCGA-19-5954-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398212.2:c.3406A>T	p.Lys1136Ter	p.K1136*	ENST00000398212	NM_152730.4	1136	Aag/Tag	0			1			A	K/*	uc003pyo.1	protein_coding	YES	CCDS43501.1			3406/3774									central_nervous_system(2)|ovary(1)	3	c.(3406-3408)AAG>TAG			hmmpanther:PTHR13465,hmmpanther:PTHR13465:SF3,Pfam_domain:PF14961,Superfamily_domains:SSF47923	hypothetical protein LOC221322				ENSP00000381270		30/32									COSM2156732	30/32	.		ENST00000398212	Transcript			multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	ENSG00000146350	g.chr6:121427228T>A	21485			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,6,121427228,T,A&fts=all	K1136*	--	--	1																																			1	1			p.K1136*	NM_152730	NP_689943			1	BROMI_HUMAN	TBC1D32	HGNC	Q96NH3	BROMI_HUMAN		GBM - Glioblastoma multiforme(226;0.00521)	A2A304_HUMAN		30	3474	-			UPI0000E67203	1136			Rab-GAP TBC.		SNV	TBC1D32,stop_gained,p.Lys1177Ter,ENST00000275159,;TBC1D32,stop_gained,p.Lys1136Ter,ENST00000398212,NM_152730.4;TBC1D32,non_coding_transcript_exon_variant,,ENST00000398197,;TBC1D32,non_coding_transcript_exon_variant,,ENST00000368464,;TBC1D32,3_prime_UTR_variant,,ENST00000464622,;TBC1D32,non_coding_transcript_exon_variant,,ENST00000519972,;	uc003pyo.1	c.3406A>T	3456/3824	5	2			c.3406A>T						6	SNP	c.(3406-3408)AAG>TAG	34	34			central_nervous_system(2)|ovary(1)	3	Broad	hypothetical protein LOC221322			121427228		0.393	ENSG00000146350	2296	g.chr6:121427228T>A	multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity							280.819708	KEEP	56	58	-1	91	81	56	58	-1	283.115495	91	81	0.396761	1	0	0	0	0	0	1	0	0	--	--		0	A				174	GBM-19-5954-TP	p.K1136*	T	AACTCAGCCTTCAGTAGCATT	NM_152730	NP_689943	121427228	Q96NH3	BROMI_HUMAN	0		GBM - Glioblastoma multiforme(226;0.00521)	30	3474	-	A	A			Nonsense_Mutation	1136			Rab-GAP TBC.			
TBC1D32	0	broad.mit.edu	GRCh37	6	121433663	121433663	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-4210-01	TCGA-32-4210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398212.2:c.3312G>C	p.Arg1104Ser	p.R1104S	ENST00000398212	NM_152730.4	1104	agG/agC	0			1			G	R/S	uc003pyo.1	protein_coding	YES	CCDS43501.1			3312/3774									central_nervous_system(2)|ovary(1)	3	c.(3310-3312)AGG>AGC			hmmpanther:PTHR13465,hmmpanther:PTHR13465:SF3,Pfam_domain:PF14961	hypothetical protein LOC221322				ENSP00000381270		29/32									COSM3410558	29/32	.		ENST00000398212	Transcript			multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	ENSG00000146350	g.chr6:121433663C>G	21485			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=BROMI_HUMAN&rb=4&re=1255&var=R1104S	NA	getma.org/?cm=var&var=hg19,6,121433663,C,G&fts=all	R1104S	--	--	1																																			1	1		probably_damaging(0.999)	p.R1104S	NM_152730	NP_689943		deleterious(0)	1	BROMI_HUMAN	TBC1D32	HGNC	Q96NH3	BROMI_HUMAN		GBM - Glioblastoma multiforme(226;0.00521)	A2A304_HUMAN		29	3380	-			UPI0000E67203	1104					SNV	TBC1D32,missense_variant,p.Arg1145Ser,ENST00000275159,;TBC1D32,missense_variant,p.Arg1104Ser,ENST00000398212,NM_152730.4;TBC1D32,non_coding_transcript_exon_variant,,ENST00000398197,;TBC1D32,non_coding_transcript_exon_variant,,ENST00000368464,;TBC1D32,3_prime_UTR_variant,,ENST00000464622,;TBC1D32,3_prime_UTR_variant,,ENST00000509492,;	uc003pyo.1	c.3312G>C	3362/3824	3	3			c.3312G>C						6	SNP	c.(3310-3312)AGG>AGC	9	9			central_nervous_system(2)|ovary(1)	3	Broad	hypothetical protein LOC221322			121433663		0.338	ENSG00000146350	2296	g.chr6:121433663C>G	multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity							-15.399271	KEEP	1	3	-1	77	57	1	3	-1	10.247784	77	57	0.036364	1	0	0	0	0	1	0	0	0	--	--		0	G				245	GBM-32-4210-TP	p.R1104S	C	AAATATGTAGCCTTGGCAACC	NM_152730	NP_689943	121433663	Q96NH3	BROMI_HUMAN	0		GBM - Glioblastoma multiforme(226;0.00521)	29	3380	-	G	G			Missense_Mutation	1104						
TBC1D32	221322		GRCh37	6	121560260	121560260	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000398212.2:c.2320C>T	p.Pro774Ser	p.P774S	ENST00000398212	NM_152730.4	774	Ccc/Tcc	0																																																																																																																																																																																																																																												
TBC1D3F	84218		GRCh37	17	36288289	36288289	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000327454.6:c.375C>T	p.Pro125=	p.P125=	ENST00000327454	NM_032258.2	125	ccC/ccT	0																																																																																																																																																																																																																																												
TBC1D4	9882	broad.mit.edu	GRCh37	13	75933904	75933904	+	splice_donor_variant	Splice_Site	SNP	C	C	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377636.3:c.1170+1G>A		p.X390_splice	ENST00000377636	NM_014832.2	390		0			1			T		uc001vjl.1	protein_coding	YES	CCDS41901.1			1170/3897									ovary(4)|central_nervous_system(1)|skin(1)	6	c.e3+1				TBC1 domain family, member 4				ENSP00000366863											COSM3399444		.		ENST00000377636	Transcript				cytoplasm	Rab GTPase activator activity	ENSG00000136111	g.chr13:75933904C>T	19165			HIGH	20-Mar							--	--	1																																		TBC1D4_uc010aer.2_Splice_Site_p.Q390_splice|TBC1D4_uc010aes.2_Splice_Site_p.Q390_splice	1	1			p.Q390_splice	NM_014832	NP_055647			1	TBCD4_HUMAN	TBC1D4	HGNC	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)			3	1517	-		Prostate(6;0.014)|Breast(118;0.0982)	UPI00001AE7B3						SNV	TBC1D4,splice_donor_variant,,ENST00000377636,NM_014832.2;TBC1D4,splice_donor_variant,,ENST00000431480,NM_001286658.1;TBC1D4,splice_donor_variant,,ENST00000425511,;TBC1D4,splice_donor_variant,,ENST00000377625,NM_001286659.1;	uc001vjl.1	c.1170_splice	-/6364	5	1			c.1170_splice						13	SNP	c.e3+1	13	13			ovary(4)|central_nervous_system(1)|skin(1)	6	Broad	TBC1 domain family, member 4			75933904		0.313	ENSG00000136111	15381	g.chr13:75933904C>T		cytoplasm	Rab GTPase activator activity							86.385035	KEEP	15	17	-1	39	38	15	17	-1	89.742965	39	38	0.306931	1	0	0	0	0	0	0	0	1	--	--		0	T			TBC1D4_uc010aer.2_Splice_Site_p.Q390_splice|TBC1D4_uc010aes.2_Splice_Site_p.Q390_splice	73	GBM-06-0877-TP	p.Q390_splice	C	TTGATACATACCTGAGAACAA	NM_014832	NP_055647	75933904	O60343	TBCD4_HUMAN	0		GBM - Glioblastoma multiforme(99;0.0116)	3	1517	-	T	T		Prostate(6;0.014)|Breast(118;0.0982)	Splice_Site							
TBC1D8	11138	broad.mit.edu	GRCh37	2	101655055	101655055	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-0241-01	TCGA-06-0241-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376840.4:c.1098C>A	p.Ile366=	p.I366=	ENST00000376840		366	atC/atA	0			1			T	I	uc010fiv.2	protein_coding	YES	CCDS46375.1			1098/3423									ovary(3)	3	c.(1096-1098)ATC>ATA			hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF218	TBC1 domain family, member 8				ENSP00000366036		20-Jul									COSM2151131,COSM2151130	20-Jul	.		ENST00000376840	Transcript			blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	ENSG00000204634	g.chr2:101655055G>T	17791			LOW								--	--	1																																		TBC1D8_uc010yvw.1_Silent_p.I381I|TBC1D8_uc002tau.3_Silent_p.I123I	1,1	1			p.I366I	NM_001102426	NP_001095896			1,1	TBCD8_HUMAN	TBC1D8	HGNC	O95759	TBCD8_HUMAN					7	1229	-			UPI00015ADD19	366					SNV	TBC1D8,synonymous_variant,p.=,ENST00000409318,NM_001102426.1;TBC1D8,synonymous_variant,p.=,ENST00000376840,;	uc010fiv.2	c.1098C>A	1098/3627	1	1			c.1098C>A						2	SNP	c.(1096-1098)ATC>ATA	9	9			ovary(3)	3	Broad	TBC1 domain family, member 8			101655055		0.612	ENSG00000204634	15384	g.chr2:101655055G>T	blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity							323.819988	KEEP	71	70	0.503546099	79	84	71	70	0.503546099	324.13767	79	84	0.462151	1	0	0	0	0	0	0	1	0	--	--		0	T			TBC1D8_uc010yvw.1_Silent_p.I381I|TBC1D8_uc002tau.3_Silent_p.I123I	57	GBM-06-0241-TP	p.I366I	G	CCTTGCTTCTGATACTGACAA	NM_001102426	NP_001095896	101655055	O95759	TBCD8_HUMAN	0			7	1229	-	T	T			Silent	366						
TBC1D8	11138	broad.mit.edu	GRCh37	2	101650173	101650173	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-2564-01	TCGA-06-2564-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376840.4:c.1606G>C	p.Val536Leu	p.V536L	ENST00000376840		536	Gtg/Ctg	0			1			G	V/L	uc010fiv.2	protein_coding	YES	CCDS46375.1			1606/3423									ovary(3)	3	c.(1606-1608)GTG>CTG			PROSITE_profiles:PS50086,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF218,Pfam_domain:PF00566,Gene3D:2qq8A02,SMART_domains:SM00164,Superfamily_domains:SSF47923	TBC1 domain family, member 8				ENSP00000366036		20-Oct									COSM3406703,COSM3406702	20-Oct	.		ENST00000376840	Transcript			blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	ENSG00000204634	g.chr2:101650173C>G	17791			MODERATE		0.36	neutral	getma.org/?cm=msa&ty=f&p=TBCD8_HUMAN&rb=508&re=712&var=V536L	getma.org/pdb.php?prot=TBCD8_HUMAN&from=508&to=712&var=V536L	getma.org/?cm=var&var=hg19,2,101650173,C,G&fts=all	V536L	--	--	1																																		TBC1D8_uc010yvw.1_Missense_Mutation_p.V551L|TBC1D8_uc002tau.3_Missense_Mutation_p.V293L	1,1	1		possibly_damaging(0.717)	p.V536L	NM_001102426	NP_001095896		tolerated(0.06)	1,1	TBCD8_HUMAN	TBC1D8	HGNC	O95759	TBCD8_HUMAN					10	1737	-			UPI00015ADD19	536			Rab-GAP TBC.		SNV	TBC1D8,missense_variant,p.Val551Leu,ENST00000409318,NM_001102426.1;TBC1D8,missense_variant,p.Val536Leu,ENST00000376840,;TBC1D8,upstream_gene_variant,,ENST00000481317,;TBC1D8,upstream_gene_variant,,ENST00000473937,;TBC1D8,upstream_gene_variant,,ENST00000485875,;	uc010fiv.2	c.1606G>C	1606/3627	3	3			c.1606G>C						2	SNP	c.(1606-1608)GTG>CTG	4	4			ovary(3)	3	Broad	TBC1 domain family, member 8			101650173		0.542	ENSG00000204634	15384	g.chr2:101650173C>G	blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity							78.688109	KEEP	13	13	-1	29	28	13	13	-1	80.579161	29	28	0.328767	1	0	0	0	0	1	0	0	0	--	--		0	G			TBC1D8_uc010yvw.1_Missense_Mutation_p.V551L|TBC1D8_uc002tau.3_Missense_Mutation_p.V293L	87	GBM-06-2564-TP	p.V536L	C	GACTCCTCCACCAGATTCCCG	NM_001102426	NP_001095896	101650173	O95759	TBCD8_HUMAN	0			10	1737	-	G	G			Missense_Mutation	536			Rab-GAP TBC.			
TBC1D8	0	broad.mit.edu	GRCh37	2	101670635	101670635	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376840.4:c.521G>A	p.Arg174His	p.R174H	ENST00000376840		174	cGc/cAc	0			1			T	R/H	uc010fiv.2	protein_coding	YES	CCDS46375.1			521/3423									ovary(3)	3	c.(520-522)CGC>CAC			Pfam_domain:PF02893,SMART_domains:SM00568	TBC1 domain family, member 8				ENSP00000366036		20-Apr	4.95E-05					9.91E-05			rs759875939,COSM3406707,COSM3406706	20-Apr	.		ENST00000376840	Transcript			blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	ENSG00000204634	g.chr2:101670635C>T	17791			MODERATE		2.05	medium	getma.org/?cm=msa&ty=f&p=TBCD8_HUMAN&rb=145&re=212&var=R174H	NA	getma.org/?cm=var&var=hg19,2,101670635,C,T&fts=all	R174H	--	--	1																																		TBC1D8_uc010yvw.1_Missense_Mutation_p.R189H|TBC1D8_uc002tau.3_5'UTR	0,1,1	1		probably_damaging(1)	p.R174H	NM_001102426	NP_001095896		deleterious(0.02)	0,1,1	TBCD8_HUMAN	TBC1D8	HGNC	O95759	TBCD8_HUMAN					4	652	-			UPI00015ADD19	174			GRAM 1.		SNV	TBC1D8,missense_variant,p.Arg189His,ENST00000409318,NM_001102426.1;TBC1D8,missense_variant,p.Arg174His,ENST00000376840,;	uc010fiv.2	c.521G>A	521/3627	1	1			c.521G>A						2	SNP	c.(520-522)CGC>CAC	4	4			ovary(3)	3	Broad	TBC1 domain family, member 8			101670635		0.587	ENSG00000204634	15384	g.chr2:101670635C>T	blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity							41.583728	KEEP	10	10	-1	19	20	10	10	-1	43.157456	19	20	0.313725	1	0	0	0	0	1	0	0	0	--	--		0	T			TBC1D8_uc010yvw.1_Missense_Mutation_p.R189H|TBC1D8_uc002tau.3_5'UTR	249	GBM-32-5222-TP	p.R174H	C	CCAGCCCTGGCGGGGCACCCT	NM_001102426	NP_001095896	101670635	O95759	TBCD8_HUMAN	0			4	652	-	T	T			Missense_Mutation	174			GRAM 1.			
TBC1D8B	54885	broad.mit.edu	GRCh37	X	106097468	106097468	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5418-01	TCGA-06-5418-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357242.5:c.2294G>A	p.Arg765His	p.R765H	ENST00000357242	NM_017752.2	765	cGc/cAc	0	A:0		1			A	R/H	uc004emo.2	protein_coding	YES	CCDS14522.1			2294/3363									ovary(2)|central_nervous_system(1)|skin(1)	4	c.(2293-2295)CGC>CAC			hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF260	TBC1 domain family, member 8B (with GRAM domain)			A:0.0003	ENSP00000349781		14/21	0.000115					0.00017			rs202142436,COSM754732	14/21	.		ENST00000357242	Transcript				intracellular	calcium ion binding|Rab GTPase activator activity	ENSG00000133138	g.chrX:106097468G>A	24715			MODERATE		2.66	medium	getma.org/?cm=msa&ty=f&p=TBC8B_HUMAN&rb=718&re=1118&var=R765H	NA	getma.org/?cm=var&var=hg19,X,106097468,G,A&fts=all	R765H	--	--	1																																		MORC4_uc004emp.3_Intron	0,1	1		probably_damaging(0.987)	p.R765H	NM_017752	NP_060222		deleterious(0)	0,1	TBC8B_HUMAN	TBC1D8B	HGNC	Q0IIM8	TBC8B_HUMAN			D6RC82_HUMAN		14	2459	+			UPI0000225CD5	765					SNV	TBC1D8B,missense_variant,p.Arg765His,ENST00000357242,NM_017752.2;TBC1D8B,missense_variant,p.Arg759His,ENST00000276175,;MORC4,intron_variant,,ENST00000604604,;TBC1D8B,intron_variant,,ENST00000431860,;TBC1D8B,downstream_gene_variant,,ENST00000310452,NM_198881.1;	uc004emo.2	c.2294G>A	2468/5717	2	2			c.2294G>A						23	SNP	c.(2293-2295)CGC>CAC	37	37			ovary(2)|central_nervous_system(1)|skin(1)	4	Broad	TBC1 domain family, member 8B (with GRAM domain)			106097468		0.348	ENSG00000133138	15385	g.chrX:106097468G>A		intracellular	calcium ion binding|Rab GTPase activator activity							171.601801	KEEP	30	34	-1	26	19	30	34	-1	172.181909	26	19	0.583333	1	0	0	0	0	1	0	0	0	--	--		0	A			MORC4_uc004emp.3_Intron	100	GBM-06-5418-TP	p.R765H	G	CATAGTATGCGCTGTCGAAAT	NM_017752	NP_060222	106097468	Q0IIM8	TBC8B_HUMAN	0			14	2459	+	A	A			Missense_Mutation	765						
TBC1D8B	0	broad.mit.edu	GRCh37	X	106109162	106109162	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01	TCGA-19-5958-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357242.5:c.2561C>T	p.Ala854Val	p.A854V	ENST00000357242	NM_017752.2	854	gCt/gTt	0			1			T	A/V	uc004emo.2	protein_coding	YES	CCDS14522.1			2561/3363									ovary(2)|central_nervous_system(1)|skin(1)	4	c.(2560-2562)GCT>GTT			Gene3D:1.10.238.10,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF260,Superfamily_domains:SSF47473	TBC1 domain family, member 8B (with GRAM domain)				ENSP00000349781		16/21									COSM2156811	16/21	.		ENST00000357242	Transcript				intracellular	calcium ion binding|Rab GTPase activator activity	ENSG00000133138	g.chrX:106109162C>T	24715			MODERATE		2.11	medium	getma.org/?cm=msa&ty=f&p=TBC8B_HUMAN&rb=718&re=1118&var=A854V	getma.org/pdb.php?prot=TBC8B_HUMAN&from=718&to=1118&var=A854V	getma.org/?cm=var&var=hg19,X,106109162,C,T&fts=all	A854V	--	--	1																																		MORC4_uc004emp.3_Intron	1	1		benign(0.037)	p.A854V	NM_017752	NP_060222		tolerated(0.15)	1	TBC8B_HUMAN	TBC1D8B	HGNC	Q0IIM8	TBC8B_HUMAN			D6RC82_HUMAN		16	2726	+			UPI0000225CD5	854					SNV	TBC1D8B,missense_variant,p.Ala854Val,ENST00000357242,NM_017752.2;TBC1D8B,missense_variant,p.Ala848Val,ENST00000276175,;TBC1D8B,missense_variant,p.Ala117Val,ENST00000431860,;MORC4,intron_variant,,ENST00000604604,;TBC1D8B,non_coding_transcript_exon_variant,,ENST00000492970,;	uc004emo.2	c.2561C>T	2735/5717	2	2			c.2561C>T						23	SNP	c.(2560-2562)GCT>GTT	42	42			ovary(2)|central_nervous_system(1)|skin(1)	4	Broad	TBC1 domain family, member 8B (with GRAM domain)			106109162		0.408	ENSG00000133138	15385	g.chrX:106109162C>T		intracellular	calcium ion binding|Rab GTPase activator activity							266.95646	KEEP	38	55	-1	17	21	38	55	-1	270.802778	17	21	0.696429	1	0	0	0	0	1	0	0	0	--	--		0	T			MORC4_uc004emp.3_Intron	176	GBM-19-5958-TP	p.A854V	C	AGTCCCTGGGCTCATTCTGCA	NM_017752	NP_060222	106109162	Q0IIM8	TBC8B_HUMAN	0			16	2726	+	T	T			Missense_Mutation	854						
TBC1D8B	54885		GRCh37	X	106066520	106066521	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	-			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000357242.5:c.655_656del	p.Ser219TyrfsTer19	p.S219Yfs*19	ENST00000357242	NM_017752.2	217	acAGag/acag	0																																																																																																																																																																																																																																												
TBC1D9	23158	broad.mit.edu	GRCh37	4	141600954	141600954	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-5418-01	TCGA-06-5418-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000442267.2:c.404A>T	p.Asp135Val	p.D135V	ENST00000442267	NM_015130.2	135	gAt/gTt	0			1			A	D/V	uc010ioj.2	protein_coding	YES	CCDS47136.1			404/3801									ovary(1)	1	c.(403-405)GAT>GTT				TBC1 domain family, member 9 (with GRAM domain)				ENSP00000411197		21-Apr									COSM3409069,COSM3409068	21-Apr	.		ENST00000442267	Transcript				intracellular	calcium ion binding|Rab GTPase activator activity	ENSG00000109436	g.chr4:141600954T>A	21710			MODERATE		1.645	low	getma.org/?cm=msa&ty=f&p=TBCD9_HUMAN&rb=1&re=145&var=D135V	NA	getma.org/?cm=var&var=hg19,4,141600954,T,A&fts=all	D135V	--	--	1																																			1,1	1		probably_damaging(0.997)	p.D135V	NM_015130	NP_055945		deleterious(0)	1,1	TBCD9_HUMAN	TBC1D9	HGNC	Q6ZT07	TBCD9_HUMAN					4	676	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	UPI00001C1E18	135					SNV	TBC1D9,missense_variant,p.Asp135Val,ENST00000442267,NM_015130.2;TBC1D9,upstream_gene_variant,,ENST00000514787,;	uc010ioj.2	c.404A>T	479/5306	1	1			c.404A>T						4	SNP	c.(403-405)GAT>GTT	55	55			ovary(1)	1	Broad	TBC1 domain family, member 9 (with GRAM domain)			141600954		0.368	ENSG00000109436	15386	g.chr4:141600954T>A		intracellular	calcium ion binding|Rab GTPase activator activity							83.594715	KEEP	14	19	-1	17	17	14	19	-1	83.609787	17	17	0.482759	1	0	0	0	0	1	0	0	0	--	--		0	A				100	GBM-06-5418-TP	p.D135V	T	CGTGTCATCATCTTCCTTTAC	NM_015130	NP_055945	141600954	Q6ZT07	TBCD9_HUMAN	0			4	676	-	A	A	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	Missense_Mutation	135						
TBC1D9	0	broad.mit.edu	GRCh37	4	141580777	141580777	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01	TCGA-12-0619-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000442267.2:c.1886G>A	p.Arg629His	p.R629H	ENST00000442267	NM_015130.2	629	cGc/cAc	0			1			T	R/H	uc010ioj.2	protein_coding	YES	CCDS47136.1			1886/3801									ovary(1)	1	c.(1885-1887)CGC>CAC			PROSITE_profiles:PS50086,hmmpanther:PTHR22957:SF190,hmmpanther:PTHR22957,Pfam_domain:PF00566,SMART_domains:SM00164,Superfamily_domains:SSF47923	TBC1 domain family, member 9 (with GRAM domain)				ENSP00000411197		21-Nov	3.31E-05	0.000195				6.54E-05			COSM2153662,COSM2153663	21-Nov	.		ENST00000442267	Transcript				intracellular	calcium ion binding|Rab GTPase activator activity	ENSG00000109436	g.chr4:141580777C>T	21710			MODERATE		2.105	medium	getma.org/?cm=msa&ty=f&p=TBCD9_HUMAN&rb=518&re=722&var=R629H	getma.org/pdb.php?prot=TBCD9_HUMAN&from=518&to=722&var=R629H	getma.org/?cm=var&var=hg19,4,141580777,C,T&fts=all	R629H	--	--	1																																			1,1	1		probably_damaging(0.999)	p.R629H	NM_015130	NP_055945		deleterious(0.03)	1,1	TBCD9_HUMAN	TBC1D9	HGNC	Q6ZT07	TBCD9_HUMAN					11	2158	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	UPI00001C1E18	629			Rab-GAP TBC.		SNV	TBC1D9,missense_variant,p.Arg629His,ENST00000442267,NM_015130.2;TBC1D9,non_coding_transcript_exon_variant,,ENST00000502786,;	uc010ioj.2	c.1886G>A	1961/5306	2	2			c.1886G>A						4	SNP	c.(1885-1887)CGC>CAC	35	35			ovary(1)	1	Broad	TBC1 domain family, member 9 (with GRAM domain)			141580777		0.448	ENSG00000109436	15386	g.chr4:141580777C>T		intracellular	calcium ion binding|Rab GTPase activator activity							21.124223	KEEP	5	2	-1	8	3	5	2	-1	21.239129	8	3	0.411765	1	0	0	0	0	1	0	0	0	--	--		0	T				120	GBM-12-0619-TP	p.R629H	C	TGGGAGCATGCGCTCACACAA	NM_015130	NP_055945	141580777	Q6ZT07	TBCD9_HUMAN	0			11	2158	-	T	T	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	Missense_Mutation	629			Rab-GAP TBC.			
TBC1D9	0	broad.mit.edu	GRCh37	4	141578365	141578365	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000442267.2:c.2223G>A	p.Val741=	p.V741=	ENST00000442267	NM_015130.2	741	gtG/gtA	0			1			T	V	uc010ioj.2	protein_coding	YES	CCDS47136.1			2223/3801									ovary(1)	1	c.(2221-2223)GTG>GTA			hmmpanther:PTHR22957:SF190,hmmpanther:PTHR22957	TBC1 domain family, member 9 (with GRAM domain)				ENSP00000411197		13/21									COSM2154774,COSM2154775	13/21	.		ENST00000442267	Transcript				intracellular	calcium ion binding|Rab GTPase activator activity	ENSG00000109436	g.chr4:141578365C>T	21710			LOW								--	--	1																																			1,1	1			p.V741V	NM_015130	NP_055945			1,1	TBCD9_HUMAN	TBC1D9	HGNC	Q6ZT07	TBCD9_HUMAN					13	2495	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	UPI00001C1E18	741					SNV	TBC1D9,synonymous_variant,p.=,ENST00000442267,NM_015130.2;TBC1D9,downstream_gene_variant,,ENST00000502786,;	uc010ioj.2	c.2223G>A	2298/5306	1	1			c.2223G>A						4	SNP	c.(2221-2223)GTG>GTA	12	12			ovary(1)	1	Broad	TBC1 domain family, member 9 (with GRAM domain)			141578365		0.438	ENSG00000109436	15386	g.chr4:141578365C>T		intracellular	calcium ion binding|Rab GTPase activator activity							113.742785	KEEP	26	21	-1	45	26	26	21	-1	115.117716	45	26	0.37963	1	0	0	0	0	0	0	1	0	--	--		0	T				138	GBM-14-0813-TP	p.V741V	C	CTTTATTGGTCACACTGTCTA	NM_015130	NP_055945	141578365	Q6ZT07	TBCD9_HUMAN	0			13	2495	-	T	T	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	Silent	741						
TBC1D9	0	broad.mit.edu	GRCh37	4	141545490	141545490	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-16-1045-01	TCGA-16-1045-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000442267.2:c.2952G>A	p.Thr984=	p.T984=	ENST00000442267	NM_015130.2	984	acG/acA	0		T:0	1	T:0.0014		T	T	uc010ioj.2	protein_coding	YES	CCDS47136.1			2952/3801									ovary(1)	1	c.(2950-2952)ACG>ACA			hmmpanther:PTHR22957:SF190,hmmpanther:PTHR22957	TBC1 domain family, member 9 (with GRAM domain)		T:0		ENSP00000411197	T:0.001	19/21	0.000132		0.00117			4.63E-05			rs190153862,COSM3409067,COSM3409066	19/21	common_variant		ENST00000442267	Transcript		T:0.0004		intracellular	calcium ion binding|Rab GTPase activator activity	ENSG00000109436	g.chr4:141545490C>T	21710			LOW								--	--	1																																			0,1,1	1			p.T984T	NM_015130	NP_055945	T:0		0,1,1	TBCD9_HUMAN	TBC1D9	HGNC	Q6ZT07	TBCD9_HUMAN					19	3224	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	UPI00001C1E18	984					SNV	TBC1D9,synonymous_variant,p.=,ENST00000442267,NM_015130.2;	uc010ioj.2	c.2952G>A	3027/5306	2	2			c.2952G>A						4	SNP	c.(2950-2952)ACG>ACA	44	44			ovary(1)	1	Broad	TBC1 domain family, member 9 (with GRAM domain)			141545490		0.373	ENSG00000109436	15386	g.chr4:141545490C>T		intracellular	calcium ion binding|Rab GTPase activator activity							53.705725	KEEP	10	10	-1	28	38	10	10	-1	58.365872	28	38	0.24359	1	0	0	0	0	0	0	1	0	--	--		0	T				157	GBM-16-1045-TP	p.T984T	C	TTAGGCTCACCGTAACAAAGC	NM_015130	NP_055945	141545490	Q6ZT07	TBCD9_HUMAN	0			19	3224	-	T	T	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	Silent	984						
TBC1D9B	23061	broad.mit.edu	GRCh37	5	179315134	179315134	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0216-01	TCGA-06-0216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356834.3:c.1223G>A	p.Arg408Lys	p.R408K	ENST00000356834	NM_198868.2	408	aGg/aAg	0			1			T	R/K	uc003mlh.2	protein_coding	YES	CCDS43408.1			1223/3753									breast(1)|skin(1)	2	c.(1222-1224)AGG>AAG			hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF225	TBC1 domain family, member 9B (with GRAM domain)				ENSP00000349291		22-Jul									COSM2150922,COSM2150921	22-Jul	.		ENST00000356834	Transcript				integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	ENSG00000197226	g.chr5:179315134C>T	29097			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=TBC9B_HUMAN&rb=357&re=510&var=R408K	NA	getma.org/?cm=var&var=hg19,5,179315134,C,T&fts=all	R408K	--	--	1																																		TBC1D9B_uc003mli.2_Missense_Mutation_p.R408K|TBC1D9B_uc003mlj.2_Missense_Mutation_p.R408K	1,1	1		benign(0.01)	p.R408K	NM_198868	NP_942568		tolerated(0.6)	1,1	TBC9B_HUMAN	TBC1D9B	HGNC	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)				7	1260	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	UPI000034ECFF	408					SNV	TBC1D9B,missense_variant,p.Arg408Lys,ENST00000356834,NM_198868.2;TBC1D9B,missense_variant,p.Arg408Lys,ENST00000355235,NM_015043.3;TBC1D9B,intron_variant,,ENST00000524222,;TBC1D9B,non_coding_transcript_exon_variant,,ENST00000522029,;TBC1D9B,non_coding_transcript_exon_variant,,ENST00000518120,;TBC1D9B,non_coding_transcript_exon_variant,,ENST00000517782,;	uc003mlh.2	c.1223G>A	1261/5173	1	1			c.1223G>A						5	SNP	c.(1222-1224)AGG>AAG	5	5			breast(1)|skin(1)	2	Broad	TBC1 domain family, member 9B (with GRAM domain)			179315134		0.567	ENSG00000197226	15387	g.chr5:179315134C>T		integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity							205.500935	KEEP	54	28	-1	113	55	54	28	-1	211.623925	113	55	0.32093	1	0	0	0	0	1	0	0	0	--	--		0	T			TBC1D9B_uc003mli.2_Missense_Mutation_p.R408K|TBC1D9B_uc003mlj.2_Missense_Mutation_p.R408K	51	GBM-06-0216-TP	p.R408K	C	ACTGGCTTTCCTGCTCCCGAT	NM_198868	NP_942568	179315134	Q66K14	TBC9B_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	1260	-	T	T	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Missense_Mutation	408						
TBC1D9B	0	broad.mit.edu	GRCh37	5	179318430	179318430	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356834.3:c.993C>T	p.Cys331=	p.C331=	ENST00000356834	NM_198868.2	331	tgC/tgT	0			1			A	C	uc003mlh.2	protein_coding	YES	CCDS43408.1			993/3753									breast(1)|skin(1)	2	c.(991-993)TGC>TGT			Pfam_domain:PF02893,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF225,SMART_domains:SM00568	TBC1 domain family, member 9B (with GRAM domain)				ENSP00000349291		22-Jun									COSM3410187,COSM3410186	22-Jun	.		ENST00000356834	Transcript				integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	ENSG00000197226	g.chr5:179318430G>A	29097			LOW								--	--	1																																		TBC1D9B_uc003mli.2_Silent_p.C331C|TBC1D9B_uc003mlj.2_Silent_p.C331C	1,1	1			p.C331C	NM_198868	NP_942568			1,1	TBC9B_HUMAN	TBC1D9B	HGNC	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)				6	1030	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	UPI000034ECFF	331			GRAM 2.		SNV	TBC1D9B,synonymous_variant,p.=,ENST00000356834,NM_198868.2;TBC1D9B,synonymous_variant,p.=,ENST00000355235,NM_015043.3;TBC1D9B,synonymous_variant,p.=,ENST00000524222,;TBC1D9B,non_coding_transcript_exon_variant,,ENST00000522029,;TBC1D9B,intron_variant,,ENST00000517782,;TBC1D9B,upstream_gene_variant,,ENST00000518120,;TBC1D9B,downstream_gene_variant,,ENST00000522224,;	uc003mlh.2	c.993C>T	1031/5173	2	2			c.993C>T						5	SNP	c.(991-993)TGC>TGT	44	44			breast(1)|skin(1)	2	Broad	TBC1 domain family, member 9B (with GRAM domain)			179318430		0.592	ENSG00000197226	15387	g.chr5:179318430G>A		integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity							-23.075094	KEEP	0	4	-1	58	88	0	4	-1	6.845386	58	88	0.032	1	0	0	0	0	0	0	1	0	--	--		0	A			TBC1D9B_uc003mli.2_Silent_p.C331C|TBC1D9B_uc003mlj.2_Silent_p.C331C	235	GBM-32-2491-TP	p.C331C	G	TGCTGGCGAAGCAGATGTAGT	NM_198868	NP_942568	179318430	Q66K14	TBC9B_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	1030	-	A	A	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Silent	331			GRAM 2.			
TBCD	6904		GRCh37	17	80858560	80858560	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000355528.4:c.1683G>A	p.Gln561=	p.Q561=	ENST00000355528	NM_005993.4	561	caG/caA	0																																																																																																																																																																																																																																												
TBKBP1	0	broad.mit.edu	GRCh37	17	45776024	45776024	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-28-5220-01	TCGA-28-5220-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361722.3:c.517C>G	p.Gln173Glu	p.Q173E	ENST00000361722	NM_014726.2	173	Caa/Gaa	0			1			G	Q/E	uc002ilu.2	protein_coding	YES	CCDS45722.1			517/1848										0	c.(517-519)CAA>GAA			Low_complexity_(Seg):seg,hmmpanther:PTHR14432:SF2,hmmpanther:PTHR14432	TBK1 binding protein 1				ENSP00000354777		9-Apr									COSM3402964,COSM3402963	9-Apr	.		ENST00000361722	Transcript			innate immune response			ENSG00000198933	g.chr17:45776024C>G	30140			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TBKB1_HUMAN&rb=1&re=200&var=Q173E	NA	getma.org/?cm=var&var=hg19,17,45776024,C,G&fts=all	Q173E	--	--	1																																OREG0024498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1,1	1		benign(0.014)	p.Q173E	NM_014726	NP_055541		tolerated(0.66)	1,1	TBKB1_HUMAN	TBKBP1	HGNC	A7MCY6	TBKB1_HUMAN			J3KS71_HUMAN,F5H1U4_HUMAN		4	1366	+			UPI000006E6FC	173					SNV	TBKBP1,missense_variant,p.Gln173Glu,ENST00000361722,NM_014726.2;TBKBP1,missense_variant,p.Gln173Glu,ENST00000578982,;TBKBP1,missense_variant,p.Gln173Glu,ENST00000537587,;	uc002ilu.2	c.517C>G	1366/4121	3	3			c.517C>G						17	SNP	c.(517-519)CAA>GAA	1	1				0	Broad	TBK1 binding protein 1			45776024		0.647	ENSG00000198933	15397	g.chr17:45776024C>G	innate immune response									51.758034	KEEP	9	8	-1	4	4	9	8	-1	52.276137	4	4	0.666667	1	0	0	0	0	1	0	0	0	--	--		0	G	OREG0024498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		226	GBM-28-5220-TP	p.Q173E	C	GCGGCAACAGCAAGGCCTCCA	NM_014726	NP_055541	45776024	A7MCY6	TBKB1_HUMAN	0			4	1366	+	G	G			Missense_Mutation	173						
TBL3	0	broad.mit.edu	GRCh37	16	2025082	2025082	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000568546.1:c.618C>T	p.Asp206=	p.D206=	ENST00000568546	NM_006453.2	206	gaC/gaT	0		T:0	1	T:0		T	D	uc002cnu.1	protein_coding	YES	CCDS10453.1			618/2427										0	c.(616-618)GAC>GAT			Superfamily_domains:0049172,Superfamily_domains:SSF50978,SMART_domains:SM00320,Pfam_domain:PF00400,Gene3D:2.130.10.10,hmmpanther:PTHR19854:SF15,hmmpanther:PTHR19854,PROSITE_profiles:PS50294,PROSITE_profiles:PS50082	transducin beta-like 3		T:0.001		ENSP00000454836	T:0	22-Jul	1.65E-05			0.000116		1.54E-05			rs199830238,COSM3402131	22-Jul	.		ENST00000568546	Transcript		T:0.0002	G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity	ENSG00000183751	g.chr16:2025082C>T	11587			LOW								--	--	1																																		TBL3_uc002cnv.1_Silent_p.D92D|TBL3_uc010bsb.1_Missense_Mutation_p.R21W|TBL3_uc010bsc.1_Silent_p.D92D|TBL3_uc010uvt.1_Translation_Start_Site|TBL3_uc002cnw.1_5'Flank	0,1	1			p.D206D	NM_006453	NP_006444	T:0		0,1	TBL3_HUMAN	TBL3	HGNC	Q12788	TBL3_HUMAN			A0JLS5_HUMAN		7	720	+			UPI000006F172	206			WD 4.		SNV	TBL3,synonymous_variant,p.=,ENST00000568546,NM_006453.2;TBL3,synonymous_variant,p.=,ENST00000332704,;NOXO1,downstream_gene_variant,,ENST00000354249,NM_172168.2,NM_001267721.1,NM_172167.2,NM_144603.3;NOXO1,downstream_gene_variant,,ENST00000356120,;NOXO1,downstream_gene_variant,,ENST00000397280,;NOXO1,downstream_gene_variant,,ENST00000566005,;TBL3,non_coding_transcript_exon_variant,,ENST00000569628,;NOXO1,downstream_gene_variant,,ENST00000563181,;TBL3,upstream_gene_variant,,ENST00000567615,;TBL3,upstream_gene_variant,,ENST00000564171,;TBL3,upstream_gene_variant,,ENST00000569792,;NOXO1,downstream_gene_variant,,ENST00000569739,;TBL3,downstream_gene_variant,,ENST00000561907,;	uc002cnu.1	c.618C>T	746/6803	2	2			c.618C>T						16	SNP	c.(616-618)GAC>GAT	47	47				0	Broad	transducin beta-like 3			2025082		0.652	ENSG00000183751	15402	g.chr16:2025082C>T	G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity	Melanoma(118;616 1651 35077 38081 48633)			Melanoma(118;616 1651 35077 38081 48633)			128.403294	KEEP	34	14	-1	29	38	34	14	-1	128.874344	29	38	0.427184	1	0	0	0	0	0	0	1	0	--	--		0	T			TBL3_uc002cnv.1_Silent_p.D92D|TBL3_uc010bsb.1_Missense_Mutation_p.R21W|TBL3_uc010bsc.1_Silent_p.D92D|TBL3_uc010uvt.1_Translation_Start_Site|TBL3_uc002cnw.1_5'Flank	249	GBM-32-5222-TP	p.D206D	C	TCAGCGCCGACGGCCACACCA	NM_006453	NP_006444	2025082	Q12788	TBL3_HUMAN	0			7	720	+	T	T			Silent	206			WD 4.			
TBP	0	broad.mit.edu	GRCh37	6	170880497	170880497	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A			TCGA-19-5960-01	TCGA-19-5960-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000230354.6:c.846-1G>A		p.X282_splice	ENST00000230354				0			1			A		uc003qxt.2	protein_coding		CCDS5315.1			846/1020									ovary(1)	1	c.e7-1				TATA box binding protein				ENSP00000230354			8.24E-06					1.59E-05			rs775448208,COSM3410801		.		ENST00000230354	Transcript	1		cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	ENSG00000112592	g.chr6:170880497G>A	11588			HIGH	7-Jun							--	--	1																																		TBP_uc003qxu.2_Splice_Site_p.S282_splice|TBP_uc011ehf.1_Splice_Site_p.S262_splice	0,1				p.S282_splice	NM_003194	NP_003185			0,1	TBP_HUMAN	TBP	HGNC	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	Q7Z6S5_HUMAN,Q7Z6S4_HUMAN,Q32MN7_HUMAN,D2CT66_HUMAN,D2CT65_HUMAN,D2CT64_HUMAN,D2CT63_HUMAN,C0LUL1_HUMAN,B4DPC1_HUMAN		7	1078	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	UPI0000136C3F						SNV	TBP,splice_acceptor_variant,,ENST00000392092,NM_003194.4;TBP,splice_acceptor_variant,,ENST00000230354,;TBP,splice_acceptor_variant,,ENST00000540980,NM_001172085.1;TBP,splice_acceptor_variant,,ENST00000446829,;PDCD2,downstream_gene_variant,,ENST00000541970,NM_001199462.1,NM_002598.3;TBP,downstream_gene_variant,,ENST00000421512,;PDCD2,downstream_gene_variant,,ENST00000543284,;	uc003qxt.2	c.846_splice	-/1861	5	2			c.846_splice						6	SNP	c.e7-1	26	26			ovary(1)	1	Broad	TATA box binding protein			170880497		0.318	ENSG00000112592	15403	g.chr6:170880497G>A	cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding							-80.666493	KEEP	4	2	-1	171	194	4	2	-1	11.20563	171	194	0.017192	1	0	0	0	0	0	0	0	1	--	--		0	A			TBP_uc003qxu.2_Splice_Site_p.S282_splice|TBP_uc011ehf.1_Splice_Site_p.S262_splice	178	GBM-19-5960-TP	p.S282_splice	G	TTTCCTTCTAGTTATGAGCCA	NM_003194	NP_003185	170880497	P20226	TBP_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	7	1078	+	A	A		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	Splice_Site							
TBP	0	broad.mit.edu	GRCh37	6	170878836	170878836	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-41-2571-01	TCGA-41-2571-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000230354.6:c.814G>T	p.Gly272Cys	p.G272C	ENST00000230354		272	Ggc/Tgc	0			1			T	G/C	uc003qxt.2	protein_coding		CCDS5315.1			814/1020									ovary(1)	1	c.(814-816)GGC>TGC			HAMAP:MF_00408,hmmpanther:PTHR10126:SF15,hmmpanther:PTHR10126,Pfam_domain:PF00352,Gene3D:3.30.310.10,Superfamily_domains:SSF55945	TATA box binding protein				ENSP00000230354		8-Jun									COSM3410800	8-Jun	.		ENST00000230354	Transcript	1		cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	ENSG00000112592	g.chr6:170878836G>T	11588			MODERATE		2.77	medium	getma.org/?cm=msa&ty=f&p=TBP_HUMAN&rb=250&re=336&var=G272C	getma.org/pdb.php?prot=TBP_HUMAN&from=250&to=336&var=G272C	getma.org/?cm=var&var=hg19,6,170878836,G,T&fts=all	G272C	--	--	1																																		TBP_uc003qxu.2_Missense_Mutation_p.G272C|TBP_uc011ehf.1_Missense_Mutation_p.G252C	1			possibly_damaging(0.562)	p.G272C	NM_003194	NP_003185		deleterious(0)	1	TBP_HUMAN	TBP	HGNC	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	Q7Z6S5_HUMAN,Q7Z6S4_HUMAN,Q32MN7_HUMAN,D2CT66_HUMAN,D2CT65_HUMAN,D2CT64_HUMAN,D2CT63_HUMAN,C0LUL1_HUMAN,B4DPC1_HUMAN		6	1046	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	UPI0000136C3F	272			2		SNV	TBP,missense_variant,p.Gly272Cys,ENST00000392092,NM_003194.4;TBP,missense_variant,p.Gly272Cys,ENST00000230354,;TBP,missense_variant,p.Gly252Cys,ENST00000540980,NM_001172085.1;TBP,splice_region_variant,,ENST00000446829,;TBP,downstream_gene_variant,,ENST00000421512,;	uc003qxt.2	c.814G>T	1050/1861	2	2			c.814G>T						6	SNP	c.(814-816)GGC>TGC	26	26			ovary(1)	1	Broad	TATA box binding protein			170878836		0.368	ENSG00000112592	15403	g.chr6:170878836G>T	cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding							49.189759	KEEP	8	11	0.421052632	29	30	8	11	0.421052632	52.654466	29	30	0.267606	1	0	0	0	0	1	0	0	0	--	--		0	T			TBP_uc003qxu.2_Missense_Mutation_p.G272C|TBP_uc011ehf.1_Missense_Mutation_p.G252C	250	GBM-41-2571-TP	p.G272C	G	AAGGTTAGAAGGCCTTGTGCT	NM_003194	NP_003185	170878836	P20226	TBP_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	6	1046	+	T	T		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	Missense_Mutation	272			2			
TBPL2	387332	broad.mit.edu	GRCh37	14	55907173	55907173	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01	TCGA-06-0155-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000247219.5:c.91C>T	p.Arg31Trp	p.R31W	ENST00000247219	NM_199047.2	31	Cgg/Tgg	0			1			A	R/W	uc001xby.2	protein_coding	YES	CCDS9724.1			91/1128										0	c.(91-93)CGG>TGG				TATA box binding protein like 2				ENSP00000247219		7-Jan	4.96E-05		0.000521						rs779730706,COSM2149997	7-Jan	common_variant		ENST00000247219	Transcript			multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding	ENSG00000182521	g.chr14:55907173G>A	19841			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TBPL2_HUMAN&rb=1&re=35&var=R31W	NA	getma.org/?cm=var&var=hg19,14,55907173,G,A&fts=all	R31W	--	--	1																																			0,1	1		benign(0.003)	p.R31W	NM_199047	NP_950248		deleterious_low_confidence(0.04)	0,1	TBPL2_HUMAN	TBPL2	HGNC	Q6SJ96	TBPL2_HUMAN			G3V454_HUMAN		1	91	-			UPI0000226668	31					SNV	TBPL2,missense_variant,p.Arg31Trp,ENST00000247219,NM_199047.2;TBPL2,5_prime_UTR_variant,,ENST00000556755,;	uc001xby.2	c.91C>T	162/2037	1	1			c.91C>T						14	SNP	c.(91-93)CGG>TGG	52	52				0	Broad	TATA box binding protein like 2			55907173		0.657	ENSG00000182521	15405	g.chr14:55907173G>A	multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding							136.384048	KEEP	23	31	-1	40	31	23	31	-1	137.065848	40	31	0.417391	1	0	0	0	0	1	0	0	0	--	--		0	A				27	GBM-06-0155-TP	p.R31W	G	TCCATGGACCGTAATCCCACT	NM_199047	NP_950248	55907173	Q6SJ96	TBPL2_HUMAN	0			1	91	-	A	A			Missense_Mutation	31						
TBR1	10716	broad.mit.edu	GRCh37	2	162280004	162280004	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0157-01	TCGA-06-0157-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389554.3:c.1315A>G	p.Asn439Asp	p.N439D	ENST00000389554	NM_006593.2	439	Aac/Gac	0			1			G	N/D	uc002ubw.1	protein_coding	YES	CCDS33310.1			1315/2049									ovary(1)|central_nervous_system(1)	2	c.(1315-1317)AAC>GAC			hmmpanther:PTHR11267:SF88,hmmpanther:PTHR11267	T-box, brain, 1				ENSP00000374205		6-Jun									COSM2150046	6-Jun	.		ENST00000389554	Transcript	1			nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000136535	g.chr2:162280004A>G	11590			MODERATE		1.495	low	getma.org/?cm=msa&ty=f&p=TBR1_HUMAN&rb=395&re=594&var=N439D	NA	getma.org/?cm=var&var=hg19,2,162280004,A,G&fts=all	N439D	--	--	1																																		TBR1_uc010foy.2_Missense_Mutation_p.N152D	1	1		possibly_damaging(0.899)	p.N439D	NM_006593	NP_006584		deleterious(0.04)	1	TBR1_HUMAN	TBR1	HGNC	Q16650	TBR1_HUMAN			Q56A81_HUMAN,B0AZS4_HUMAN		6	1617	+			UPI0000136A99	439					SNV	TBR1,missense_variant,p.Asn439Asp,ENST00000389554,NM_006593.2;TBR1,missense_variant,p.Asn152Asp,ENST00000410035,;TBR1,splice_region_variant,,ENST00000411412,;AC009487.4,non_coding_transcript_exon_variant,,ENST00000437683,;AC009487.5,upstream_gene_variant,,ENST00000505579,;AC009487.4,upstream_gene_variant,,ENST00000444164,;TBR1,non_coding_transcript_exon_variant,,ENST00000477804,;SLC4A10,upstream_gene_variant,,ENST00000605990,;SLC4A10,upstream_gene_variant,,ENST00000482861,;TBR1,downstream_gene_variant,,ENST00000489530,;SLC4A10,upstream_gene_variant,,ENST00000606386,;TBR1,non_coding_transcript_exon_variant,,ENST00000463544,;	uc002ubw.1	c.1315A>G	1632/4009	3	3			c.1315A>G						2	SNP	c.(1315-1317)AAC>GAC	8	8			ovary(1)|central_nervous_system(1)	2	Broad	T-box, brain, 1			162280004		0.597	ENSG00000136535	15406	g.chr2:162280004A>G		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity							10.690883	KEEP	5	6	-1	12	11	5	6	-1	12.162524	12	11	0.210526	1	0	0	0	0	1	0	0	0	--	--		0	G			TBR1_uc010foy.2_Missense_Mutation_p.N152D	28	GBM-06-0157-TP	p.N439D	A	GTTCGTGAGCAACTACGCCAA	NM_006593	NP_006584	162280004	Q16650	TBR1_HUMAN	0			6	1617	+	G	G			Missense_Mutation	439						
TBX15	0	broad.mit.edu	GRCh37	1	119441665	119441665	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-1977-01	TCGA-32-1977-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369429.3:c.1010T>C	p.Met337Thr	p.M337T	ENST00000369429		337	aTg/aCg	0			1			G	M/T	uc001ehl.1	protein_coding					1010/1809									large_intestine(1)|pancreas(1)	2	c.(691-693)ATG>ACG			hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF98	T-box 15				ENSP00000358437		8-Jul	2.47E-05					3.01E-05		6.11E-05	rs760132433,COSM3399597,COSM3399598,COSM3399599	8-Jul	.		ENST00000369429	Transcript	1			nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000092607	g.chr1:119441665A>G	11594			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=TBX15_HUMAN&rb=306&re=505&var=M337T	NA	getma.org/?cm=var&var=hg19,1,119441665,A,G&fts=all	M337T	--	--	1																																		TBX15_uc009whj.1_Missense_Mutation_p.M22T	0,1,1,1			benign(0.071)	p.M231T	NM_152380	NP_689593		tolerated(0.06)	0,1,1,1	TBX15_HUMAN	TBX15	HGNC	Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	Q8N8P2_HUMAN		7	1007	-	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)	UPI0000470B9B	337					SNV	TBX15,missense_variant,p.Met337Thr,ENST00000369429,;TBX15,missense_variant,p.Met231Thr,ENST00000207157,NM_152380.2;TBX15,missense_variant,p.Met32Thr,ENST00000449873,;	uc001ehl.1	c.692T>C	1020/3504	3	3			c.692T>C						1	SNP	c.(691-693)ATG>ACG	1	1			large_intestine(1)|pancreas(1)	2	Broad	T-box 15			119441665		0.527	ENSG00000092607	15411	g.chr1:119441665A>G		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity							50.550673	KEEP	16	10	-1	42	43	16	10	-1	57.519511	42	43	0.215054	1	0	0	0	0	1	0	0	0	--	--		0	G			TBX15_uc009whj.1_Missense_Mutation_p.M22T	229	GBM-32-1977-TP	p.M231T	A	CTGCTTCTGCATGGTGGTGAA	NM_152380	NP_689593	119441665	Q96SF7	TBX15_HUMAN	0		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	7	1007	-	G	G	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)	Missense_Mutation	337						
TBX18	0	broad.mit.edu	GRCh37	6	85446874	85446874	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6285-01	TCGA-76-6285-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369663.5:c.1353G>A	p.Pro451=	p.P451=	ENST00000369663	NM_001080508.2	451	ccG/ccA	0			1			T	P	uc003pkl.1	protein_coding	YES	CCDS34495.1			1353/1824									ovary(2)|pancreas(2)|lung(1)	5	c.(1351-1353)CCG>CCA			hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF20	T-box 18				ENSP00000358677		8-Aug	8.24E-06					1.50E-05			rs774472628,COSM3411324	8-Aug	.		ENST00000369663	Transcript			multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000112837	g.chr6:85446874C>T	11595			LOW								--	--	1																																		TBX18_uc010kbq.1_Intron	0,1	1			p.P451P	NM_001080508	NP_001073977			0,1	TBX18_HUMAN	TBX18	HGNC	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	U3KQQ9_HUMAN,U3KQ31_HUMAN		8	1353	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	UPI00001A3A8A	451					SNV	TBX18,synonymous_variant,p.=,ENST00000369663,NM_001080508.2;TBX18,intron_variant,,ENST00000606784,;TBX18,downstream_gene_variant,,ENST00000606521,;TBX18,downstream_gene_variant,,ENST00000607343,;	uc003pkl.1	c.1353G>A	1691/6245	2	2			c.1353G>A						6	SNP	c.(1351-1353)CCG>CCA	48	48			ovary(2)|pancreas(2)|lung(1)	5	Broad	T-box 18			85446874		0.612	ENSG00000112837	15412	g.chr6:85446874C>T	multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			300			300	117.021286	KEEP	18	24	-1	7	6	18	24	-1	120.088389	7	6	0.76	1	0	0	0	0	0	0	1	0	--	--		0	T			TBX18_uc010kbq.1_Intron	280	GBM-76-6285-TP	p.P451P	C	GAGTCCTGGGCGGGGCAAAGG	NM_001080508	NP_001073977	85446874	O95935	TBX18_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.0267)	8	1353	-	T	T		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	Silent	451						
TBX20	0	broad.mit.edu	GRCh37	7	35242129	35242129	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2638-01	TCGA-32-2638-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408931.3:c.1257G>A	p.Pro419=	p.P419=	ENST00000408931	NM_001077653.2	419	ccG/ccA	0			1			T	P	uc011kas.1	protein_coding	YES	CCDS43568.1			1257/1344									central_nervous_system(1)	1	c.(1255-1257)CCG>CCA			hmmpanther:PTHR11267	T-box transcription factor TBX20				ENSP00000386170		8-Aug									COSM747029	8-Aug	.		ENST00000408931	Transcript	1			nucleus	DNA binding	ENSG00000164532	g.chr7:35242129C>T	11598			LOW								--	--	1																																			1	1			p.P419P	NM_001077653	NP_001071121			1	TBX20_HUMAN	TBX20	HGNC	Q9UMR3	TBX20_HUMAN			C1INI6_HUMAN,C1INI5_HUMAN,C1INI4_HUMAN,C1INI3_HUMAN,C1INI2_HUMAN,C1INI1_HUMAN		8	1268	-			UPI00004B23D3	419					SNV	TBX20,synonymous_variant,p.=,ENST00000408931,NM_001077653.2,NM_001166220.1;	uc011kas.1	c.1257G>A	1784/1871	1	1			c.1257G>A						7	SNP	c.(1255-1257)CCG>CCA	1	1			central_nervous_system(1)	1	Broad	T-box transcription factor TBX20			35242129		0.522	ENSG00000164532	15415	g.chr7:35242129C>T		nucleus	DNA binding							10.526958	KEEP	4	2	-1	20	17	4	2	-1	14.101131	20	17	0.171429	1	0	0	0	0	0	0	1	0	--	--		0	T				242	GBM-32-2638-TP	p.P419P	C	GATGGTATCGCGGCATGTGGA	NM_001077653	NP_001071121	35242129	Q9UMR3	TBX20_HUMAN	0			8	1268	-	T	T			Silent	419						
TBX22	50945	broad.mit.edu	GRCh37	X	79286010	79286010	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-02-0055-01	TCGA-02-0055-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373294.5:c.963C>T	p.Gly321=	p.G321=	ENST00000373294	NM_016954.2	321	ggC/ggT	0			1			T	G	uc010nmg.1	protein_coding	YES	CCDS14445.1			963/1563									lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15	c.(961-963)GGC>GGT			Low_complexity_(Seg):seg,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF97	T-box 22 isoform 1				ENSP00000362390		8-Aug									COSM3406618	8-Aug	.		ENST00000373294	Transcript	1		multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000122145	g.chrX:79286010C>T	11600			LOW								--	--	1																																		TBX22_uc004edi.1_Silent_p.G201G|TBX22_uc004edj.1_Silent_p.G321G	1	1			p.G321G	NM_001109878	NP_001103348			1	TBX22_HUMAN	TBX22	HGNC	Q9Y458	TBX22_HUMAN			C3TX51_HUMAN		9	1097	+			UPI00001377ED	321					SNV	TBX22,synonymous_variant,p.=,ENST00000442340,NM_001109878.1,NM_001109879.1;TBX22,synonymous_variant,p.=,ENST00000373294,NM_016954.2;TBX22,synonymous_variant,p.=,ENST00000373291,;TBX22,synonymous_variant,p.=,ENST00000373296,;	uc010nmg.1	c.963C>T	991/2249	1	1			c.963C>T						23	SNP	c.(961-963)GGC>GGT	9	9			lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15	Broad	T-box 22 isoform 1			79286010		0.433	ENSG00000122145	15417	g.chrX:79286010C>T	multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			298			298	41.144648	KEEP	17	15	-1	116	107	17	15	-1	68.321933	116	107	0.133971	1	0	0	0	0	0	0	1	0	--	--		0	T			TBX22_uc004edi.1_Silent_p.G201G|TBX22_uc004edj.1_Silent_p.G321G	4	GBM-02-0055-TP	p.G321G	C	GAAGCAGTGGCTCATCTCCAG	NM_001109878	NP_001103348	79286010	Q9Y458	TBX22_HUMAN	0			9	1097	+	T	T			Silent	321						
TBX22	0	broad.mit.edu	GRCh37	X	79282295	79282295	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-14-1456-01	TCGA-14-1456-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373294.5:c.726C>A	p.Pro242=	p.P242=	ENST00000373294	NM_016954.2	242	ccC/ccA	0			1			A	P	uc010nmg.1	protein_coding	YES	CCDS14445.1			726/1563									lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15	c.(724-726)CCC>CCA			PROSITE_profiles:PS50252,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF97,Pfam_domain:PF00907,Gene3D:1h6fA00,SMART_domains:SM00425,Superfamily_domains:SSF49417	T-box 22 isoform 1				ENSP00000362390		8-May									COSM3406617	8-May	.		ENST00000373294	Transcript	1		multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000122145	g.chrX:79282295C>A	11600			LOW								--	--	1																																		TBX22_uc004edi.1_Silent_p.P122P|TBX22_uc004edj.1_Silent_p.P242P	1	1			p.P242P	NM_001109878	NP_001103348			1	TBX22_HUMAN	TBX22	HGNC	Q9Y458	TBX22_HUMAN			C3TX51_HUMAN		6	860	+			UPI00001377ED	242			T-box.		SNV	TBX22,synonymous_variant,p.=,ENST00000442340,NM_001109878.1,NM_001109879.1;TBX22,synonymous_variant,p.=,ENST00000373294,NM_016954.2;TBX22,synonymous_variant,p.=,ENST00000373291,;TBX22,synonymous_variant,p.=,ENST00000373296,;TBX22,downstream_gene_variant,,ENST00000476373,;	uc010nmg.1	c.726C>A	754/2249	2	2			c.726C>A						23	SNP	c.(724-726)CCC>CCA	22	22			lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15	Broad	T-box 22 isoform 1			79282295		0.463	ENSG00000122145	15417	g.chrX:79282295C>A	multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			298			298	11.321291	KEEP	2	8	0.8	33	38	2	8	0.8	21.216993	33	38	0.125	1	0	0	0	0	0	0	1	0	--	--		0	A			TBX22_uc004edi.1_Silent_p.P122P|TBX22_uc004edj.1_Silent_p.P242P	146	GBM-14-1456-TP	p.P242P	C	AGTCCTTGCCCACTGAAGGTG	NM_001109878	NP_001103348	79282295	Q9Y458	TBX22_HUMAN	0			6	860	+	A	A			Silent	242			T-box.			
TBX22	0	broad.mit.edu	GRCh37	X	79281244	79281244	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-2625-01	TCGA-19-2625-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373294.5:c.601C>G	p.Leu201Val	p.L201V	ENST00000373294	NM_016954.2	201	Ctc/Gtc	0			1			G	L/V	uc010nmg.1	protein_coding	YES	CCDS14445.1			601/1563								p.L201I(1)	lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15	c.(601-603)CTC>GTC			PROSITE_profiles:PS50252,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF97,Pfam_domain:PF00907,Gene3D:1h6fA00,SMART_domains:SM00425,Superfamily_domains:SSF49417,Prints_domain:PR00937	T-box 22 isoform 1				ENSP00000362390		8-Apr									COSM3406616	8-Apr	.		ENST00000373294	Transcript	1		multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000122145	g.chrX:79281244C>G	11600			MODERATE		3.19	medium	getma.org/?cm=msa&ty=f&p=TBX22_HUMAN&rb=93&re=284&var=L201V	getma.org/pdb.php?prot=TBX22_HUMAN&from=93&to=284&var=L201V	getma.org/?cm=var&var=hg19,X,79281244,C,G&fts=all	L201V	--	--	1																																		TBX22_uc004edi.1_Missense_Mutation_p.L81V|TBX22_uc004edj.1_Missense_Mutation_p.L201V	1	1		probably_damaging(1)	p.L201V	NM_001109878	NP_001103348		deleterious(0)	1	TBX22_HUMAN	TBX22	HGNC	Q9Y458	TBX22_HUMAN			C3TX51_HUMAN		5	735	+			UPI00001377ED	201			T-box.		SNV	TBX22,missense_variant,p.Leu81Val,ENST00000442340,NM_001109878.1,NM_001109879.1;TBX22,missense_variant,p.Leu201Val,ENST00000373294,NM_016954.2;TBX22,missense_variant,p.Leu81Val,ENST00000373291,;TBX22,missense_variant,p.Leu201Val,ENST00000373296,;TBX22,downstream_gene_variant,,ENST00000476373,;	uc010nmg.1	c.601C>G	629/2249	3	3			c.601C>G						23	SNP	c.(601-603)CTC>GTC	64	64		p.L201I(1)	lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15	Broad	T-box 22 isoform 1			79281244		0.537	ENSG00000122145	15417	g.chrX:79281244C>G	multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			298			298	34.170132	KEEP	8	4	-1	25	20	8	4	-1	38.390027	25	20	0.214286	1	0	0	0	0	1	0	0	0	--	--		0	G			TBX22_uc004edi.1_Missense_Mutation_p.L81V|TBX22_uc004edj.1_Missense_Mutation_p.L201V	165	GBM-19-2625-TP	p.L201V	C	TCGCATGAAACTCACCAACAA	NM_001109878	NP_001103348	79281244	Q9Y458	TBX22_HUMAN	0			5	735	+	G	G			Missense_Mutation	201			T-box.			
TBX22	50945		GRCh37	X	79282236	79282236	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000373294.5:c.667C>A	p.Arg223=	p.R223=	ENST00000373294	NM_016954.2	223	Cga/Aga	0																																																																																																																																																																																																																																												
TBX5	0	broad.mit.edu	GRCh37	12	114832695	114832695	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-32-1977-01	TCGA-32-1977-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310346.4:c.514A>T	p.Ile172Phe	p.I172F	ENST00000310346	NM_000192.3	172	Att/Ttt	0			1			A	I/F	uc001tvo.2	protein_coding	YES	CCDS9173.1			514/1557									ovary(6)|pancreas(1)|skin(1)	8	c.(514-516)ATT>TTT			PROSITE_profiles:PS50252,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF28,Gene3D:1h6fA00,Pfam_domain:PF00907,SMART_domains:SM00425,Superfamily_domains:SSF49417,Prints_domain:PR00937	T-box 5 isoform 1				ENSP00000309913		9-Jun									COSM3398394,COSM3398395	9-Jun	.		ENST00000310346	Transcript	1		cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	ENSG00000089225	g.chr12:114832695T>A	11604			MODERATE		1.605	low	getma.org/?cm=msa&ty=f&p=TBX5_HUMAN&rb=55&re=239&var=I172F	getma.org/pdb.php?prot=TBX5_HUMAN&from=55&to=239&var=I172F	getma.org/?cm=var&var=hg19,12,114832695,T,A&fts=all	I172F	--	--	1																																		TBX5_uc001tvp.2_Missense_Mutation_p.I172F|TBX5_uc001tvq.2_Missense_Mutation_p.I122F|TBX5_uc010syv.1_Missense_Mutation_p.I172F	1,1	1		probably_damaging(0.931)	p.I172F	NM_181486	NP_852259		deleterious(0)	1,1	TBX5_HUMAN	TBX5	HGNC	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)			6	1009	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		UPI0000136AA2	172			T-box.		SNV	TBX5,missense_variant,p.Ile172Phe,ENST00000310346,NM_000192.3;TBX5,missense_variant,p.Ile122Phe,ENST00000349716,NM_080717.2;TBX5,missense_variant,p.Ile172Phe,ENST00000405440,NM_181486.2;TBX5,missense_variant,p.Ile172Phe,ENST00000526441,;TBX5,non_coding_transcript_exon_variant,,ENST00000552726,;	uc001tvo.2	c.514A>T	1181/3825	1	1			c.514A>T						12	SNP	c.(514-516)ATT>TTT	58	58			ovary(6)|pancreas(1)|skin(1)	8	Broad	T-box 5 isoform 1			114832695		0.368	ENSG00000089225	15420	g.chr12:114832695T>A	cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	NSCLC(152;1358 1980 4050 23898 40356)			NSCLC(152;1358 1980 4050 23898 40356)			191.023144	KEEP	42	46	-1	122	179	42	46	-1	214.319813	122	179	0.230769	1	0	0	0	0	1	0	0	0	--	--		0	A			TBX5_uc001tvp.2_Missense_Mutation_p.I172F|TBX5_uc001tvq.2_Missense_Mutation_p.I122F|TBX5_uc010syv.1_Missense_Mutation_p.I172F	229	GBM-32-1977-TP	p.I172F	T	GAATTTAGAATAATCTAAAAA	NM_181486	NP_852259	114832695	Q99593	TBX5_HUMAN	0		BRCA - Breast invasive adenocarcinoma(302;0.0893)	6	1009	-	A	A	Medulloblastoma(191;0.163)|all_neural(191;0.178)		Missense_Mutation	172			T-box.			
TBX5	0	broad.mit.edu	GRCh37	12	114793581	114793581	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01	TCGA-32-2632-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310346.4:c.1313G>A	p.Arg438Gln	p.R438Q	ENST00000310346	NM_000192.3	438	cGg/cAg	0		T:0	1	T:0		T	R/Q	uc001tvo.2	protein_coding	YES	CCDS9173.1			1313/1557									ovary(6)|pancreas(1)|skin(1)	8	c.(1312-1314)CGG>CAG			hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF28	T-box 5 isoform 1		T:0		ENSP00000309913	T:0	9-Sep	0.000544	0.000102				3.06E-05	0.00113	0.00376	rs557758851,COSM3398390	9-Sep	common_variant		ENST00000310346	Transcript	1	T:0.0006	cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	ENSG00000089225	g.chr12:114793581C>T	11604			MODERATE		2.135	medium	getma.org/?cm=msa&ty=f&p=TBX5_HUMAN&rb=240&re=439&var=R438Q	NA	getma.org/?cm=var&var=hg19,12,114793581,C,T&fts=all	R438Q	--	--	1																																		TBX5_uc001tvp.2_Missense_Mutation_p.R438Q|TBX5_uc001tvq.2_Missense_Mutation_p.R388Q	0,1	1		possibly_damaging(0.776)	p.R438Q	NM_181486	NP_852259	T:0.0031	deleterious(0)	0,1	TBX5_HUMAN	TBX5	HGNC	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)			9	1808	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		UPI0000136AA2	438	MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592).				SNV	TBX5,missense_variant,p.Arg438Gln,ENST00000310346,NM_000192.3;TBX5,missense_variant,p.Arg388Gln,ENST00000349716,NM_080717.2;TBX5,missense_variant,p.Arg438Gln,ENST00000405440,NM_181486.2;	uc001tvo.2	c.1313G>A	1980/3825	2	2			c.1313G>A						12	SNP	c.(1312-1314)CGG>CAG	24	24			ovary(6)|pancreas(1)|skin(1)	8	Broad	T-box 5 isoform 1			114793581		0.657	ENSG00000089225	15420	g.chr12:114793581C>T	cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	NSCLC(152;1358 1980 4050 23898 40356)			NSCLC(152;1358 1980 4050 23898 40356)			5.708921	KEEP	3	2	-1	22	19	3	2	-1	10.565854	22	19	0.117647	1	0	0	0	0	1	0	0	0	--	--		0	T			TBX5_uc001tvp.2_Missense_Mutation_p.R438Q|TBX5_uc001tvq.2_Missense_Mutation_p.R388Q	240	GBM-32-2632-TP	p.R438Q	C	GCCAGCCAGCCGAGGGACCAG	NM_181486	NP_852259	114793581	Q99593	TBX5_HUMAN	0		BRCA - Breast invasive adenocarcinoma(302;0.0893)	9	1808	-	T	T	Medulloblastoma(191;0.163)|all_neural(191;0.178)		Missense_Mutation	438	MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592).					
TBX5	0	broad.mit.edu	GRCh37	12	114832609	114832609	+	synonymous_variant	Silent	SNP	C	C	T	rs139329918	byFrequency	TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310346.4:c.600G>A	p.Ala200=	p.A200=	ENST00000310346	NM_000192.3	200	gcG/gcA	0	A:0.0007	A:0.0015	1	A:0		T	A	uc001tvo.2	protein_coding	YES	CCDS9173.1			600/1557									ovary(6)|pancreas(1)|skin(1)	8	c.(598-600)GCG>GCA			PROSITE_profiles:PS50252,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF28,Gene3D:1h6fA00,Pfam_domain:PF00907,SMART_domains:SM00425,Superfamily_domains:SSF49417	T-box 5 isoform 1		A:0	A:0	ENSP00000309913	A:0	9-Jun	8.24E-06							6.06E-05	rs139329918,COSM201488,COSM3398393	9-Jun	.		ENST00000310346	Transcript	1	A:0.0004	cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	ENSG00000089225	g.chr12:114832609C>T	11604			LOW								--	--	1																																		TBX5_uc001tvp.2_Silent_p.A200A|TBX5_uc001tvq.2_Silent_p.A150A|TBX5_uc010syv.1_Silent_p.A200A	0,1,1	1			p.A200A	NM_181486	NP_852259	A:0		0,1,1	TBX5_HUMAN	TBX5	HGNC	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)			6	1095	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		UPI0000136AA2	200			T-box.		SNV	TBX5,synonymous_variant,p.=,ENST00000310346,NM_000192.3;TBX5,synonymous_variant,p.=,ENST00000349716,NM_080717.2;TBX5,synonymous_variant,p.=,ENST00000405440,NM_181486.2;TBX5,synonymous_variant,p.=,ENST00000526441,;TBX5,downstream_gene_variant,,ENST00000552726,;	uc001tvo.2	c.600G>A	1267/3825	2	2			c.600G>A						12	SNP	c.(598-600)GCG>GCA	34	34			ovary(6)|pancreas(1)|skin(1)	8	Broad	T-box 5 isoform 1			114832609		0.433	ENSG00000089225	15420	g.chr12:114832609C>T	cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	NSCLC(152;1358 1980 4050 23898 40356)			NSCLC(152;1358 1980 4050 23898 40356)			-59.720065	KEEP	9	13	-1	207	271	9	13	-1	39.465248	207	271	0.04646	1	0	0	0	0	0	0	1	0	--	--		0	T			TBX5_uc001tvp.2_Silent_p.A200A|TBX5_uc001tvq.2_Silent_p.A150A|TBX5_uc010syv.1_Silent_p.A200A	246	GBM-32-4211-TP	p.A200A	C	GAGTGCAGAACGCTGTATTTT	NM_181486	NP_852259	114832609	Q99593	TBX5_HUMAN	0		BRCA - Breast invasive adenocarcinoma(302;0.0893)	6	1095	-	T	T	Medulloblastoma(191;0.163)|all_neural(191;0.178)		Silent	200			T-box.			
TBXAS1	0	broad.mit.edu	GRCh37	7	139655361	139655361	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-2571-01	TCGA-41-2571-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336425.5:c.643C>T	p.Arg215Cys	p.R215C	ENST00000336425		215	Cgt/Tgt	0			1			T	R/C	uc011kqv.1	protein_coding					643/1602									ovary(2)|breast(1)	3	c.(784-786)CGT>TGT			hmmpanther:PTHR24301:SF2,hmmpanther:PTHR24301,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264	thromboxane A synthase 1, platelet isoform				ENSP00000338087		17-Nov									COSM3411657,COSM3411656	17-Nov	.		ENST00000336425	Transcript	1		hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	ENSG00000059377	g.chr7:139655361C>T	11609			MODERATE		2.505	medium	getma.org/?cm=msa&ty=f&p=THAS_HUMAN&rb=44&re=308&var=R215C	getma.org/pdb.php?prot=THAS_HUMAN&from=44&to=308&var=R215C	getma.org/?cm=var&var=hg19,7,139655361,C,T&fts=all	R215C	--	--	1																																		TBXAS1_uc003vvh.2_Missense_Mutation_p.R216C|TBXAS1_uc010lne.2_Missense_Mutation_p.R148C|TBXAS1_uc011kqu.1_Missense_Mutation_p.R167C|TBXAS1_uc003vvi.2_Missense_Mutation_p.R216C|TBXAS1_uc003vvj.2_Missense_Mutation_p.R216C|TBXAS1_uc011kqw.1_Missense_Mutation_p.R196C	1,1			benign(0.073)	p.R262C	NM_001130966	NP_001124438		deleterious(0.03)	1,1	THAS_HUMAN	TBXAS1	HGNC	P24557	THAS_HUMAN			Q9UDV3_HUMAN,Q86UL7_HUMAN,F8WD37_HUMAN,C9JS68_HUMAN		8	948	+	Melanoma(164;0.0142)		UPI0000579E7A	215			Cytoplasmic (Potential).		SNV	TBXAS1,missense_variant,p.Arg216Cys,ENST00000263552,NM_001130966.2;TBXAS1,missense_variant,p.Arg262Cys,ENST00000416849,NM_001166253.1;TBXAS1,missense_variant,p.Arg215Cys,ENST00000336425,;TBXAS1,missense_variant,p.Arg148Cys,ENST00000425687,NM_001166254.1;TBXAS1,missense_variant,p.Arg216Cys,ENST00000436047,NM_001061.4;TBXAS1,missense_variant,p.Arg261Cys,ENST00000458722,;TBXAS1,missense_variant,p.Arg215Cys,ENST00000448866,;TBXAS1,missense_variant,p.Arg216Cys,ENST00000414508,NM_030984.3;TBXAS1,missense_variant,p.Arg215Cys,ENST00000411653,;TBXAS1,non_coding_transcript_exon_variant,,ENST00000462275,;TBXAS1,3_prime_UTR_variant,,ENST00000422328,;TBXAS1,non_coding_transcript_exon_variant,,ENST00000469630,;TBXAS1,downstream_gene_variant,,ENST00000476637,;TBXAS1,upstream_gene_variant,,ENST00000494876,;	uc011kqv.1	c.784C>T	1032/2185	2	2			c.784C>T						7	SNP	c.(784-786)CGT>TGT	31	31			ovary(2)|breast(1)	3	Broad	thromboxane A synthase 1, platelet isoform			139655361		0.577	ENSG00000059377	15423	g.chr7:139655361C>T	hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity							93.100069	KEEP	30	19	-1	109	111	30	19	-1	115.68508	109	111	0.186992	1	0	0	0	0	1	0	0	0	--	--		0	T			TBXAS1_uc003vvh.2_Missense_Mutation_p.R216C|TBXAS1_uc010lne.2_Missense_Mutation_p.R148C|TBXAS1_uc011kqu.1_Missense_Mutation_p.R167C|TBXAS1_uc003vvi.2_Missense_Mutation_p.R216C|TBXAS1_uc003vvj.2_Missense_Mutation_p.R216C|TBXAS1_uc011kqw.1_Missense_Mutation_p.R196C	250	GBM-41-2571-TP	p.R262C	C	ACACTGCAAGCGTTTCTTCGA	NM_001130966	NP_001124438	139655361	P24557	THAS_HUMAN	0			8	948	+	T	T	Melanoma(164;0.0142)		Missense_Mutation	215			Cytoplasmic (Potential).			
TCEA1	6917	broad.mit.edu	GRCh37	8	54897020	54897020	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01	TCGA-06-5859-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521604.2:c.581G>A	p.Arg194Lys	p.R194K	ENST00000521604	NM_006756.2	194	aGg/aAg	0			1			T	R/K	uc003xru.2	protein_coding	YES	CCDS47858.1			581/906	T		PLAG1		salivary adenoma					0	c.(580-582)AGG>AAG			PROSITE_profiles:PS51321,hmmpanther:PTHR11477:SF1,hmmpanther:PTHR11477,Pfam_domain:PF07500,Gene3D:1enwA00,TIGRFAM_domain:TIGR01385,PIRSF_domain:PIRSF006704,SMART_domains:SM00510,Superfamily_domains:0037100	transcription elongation factor A 1 isoform 1				ENSP00000428426		10-Jul									COSM3413062,COSM3413061	10-Jul	.		ENST00000521604	Transcript			positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding	ENSG00000187735	g.chr8:54897020C>T	11612			MODERATE		2.025	medium	getma.org/?cm=msa&ty=f&p=TCEA1_HUMAN&rb=136&re=250&var=R194K	getma.org/pdb.php?prot=TCEA1_HUMAN&from=136&to=250&var=R194K	getma.org/?cm=var&var=hg19,8,54897020,C,T&fts=all	R194K	--	--	1																																		TCEA1_uc003xrv.2_Missense_Mutation_p.R173K|TCEA1_uc011ldw.1_Intron|TCEA1_uc010lyg.2_RNA	1,1	1		possibly_damaging(0.781)	p.R194K	NM_006756	NP_006747		deleterious(0.04)	1,1	TCEA1_HUMAN	TCEA1	HGNC	P23193	TCEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)				7	904	-		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	UPI0000136ABE	194			TFIIS central.		SNV	TCEA1,missense_variant,p.Arg194Lys,ENST00000521604,NM_006756.2;TCEA1,missense_variant,p.Arg173Lys,ENST00000396401,NM_201437.1;TCEA1,intron_variant,,ENST00000522635,;TCEA1,non_coding_transcript_exon_variant,,ENST00000521086,;TCEA1,intron_variant,,ENST00000522397,;	uc003xru.2	c.581G>A	985/2858	1	1			c.581G>A	T		PLAG1		salivary adenoma	8	SNP	c.(580-582)AGG>AAG	4	4				0	Broad	transcription elongation factor A 1 isoform 1			54897020		0.333	ENSG00000187735	15426	g.chr8:54897020C>T	positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding			405			405	28.100362	KEEP	2	6	-1	5	3	2	6	-1	28.100362	5	3	0.5	1	0	0	0	0	1	0	0	0	--	--		0	T			TCEA1_uc003xrv.2_Missense_Mutation_p.R173K|TCEA1_uc011ldw.1_Intron|TCEA1_uc010lyg.2_RNA	103	GBM-06-5859-TP	p.R194K	C	ATTTGATATCCTACTTCGTAC	NM_006756	NP_006747	54897020	P23193	TCEA1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)		7	904	-	T	T		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	Missense_Mutation	194			TFIIS central.			
TCEA3	6920		GRCh37	1	23720438	23720438	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000450454.2:c.753C>T	p.Pro251=	p.P251=	ENST00000450454	NM_003196.1	251	ccC/ccT	0																																																																																																																																																																																																																																												
TCEB3B	0	broad.mit.edu	GRCh37	18	44560403	44560403	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-02-2470-01	TCGA-02-2470-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332567.4:c.1233A>G	p.Gln411=	p.Q411=	ENST00000332567	NM_016427.2	411	caA/caG	0			1			C	Q	uc002lcr.1	protein_coding	YES	CCDS11932.1			1233/2262									ovary(2)|large_intestine(1)|pancreas(1)	4	c.(1231-1233)CAA>CAG			hmmpanther:PTHR15141:SF7,hmmpanther:PTHR15141	elongin A2				ENSP00000331302		1-Jan									COSM2149094	1-Jan	.		ENST00000332567	Transcript			regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	ENSG00000206181	g.chr18:44560403T>C	30771			LOW								--	--	1																																		KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	1	1			p.Q411Q	NM_016427	NP_057511			1	ELOA2_HUMAN	TCEB3B	HGNC	Q8IYF1	ELOA2_HUMAN					1	1586	-			UPI0000140A82	411					SNV	TCEB3B,synonymous_variant,p.=,ENST00000332567,NM_016427.2;KATNAL2,intron_variant,,ENST00000245121,NM_031303.2;KATNAL2,intron_variant,,ENST00000356157,;KATNAL2,intron_variant,,ENST00000592005,;KATNAL2,intron_variant,,ENST00000585469,;TCEB3C,upstream_gene_variant,,ENST00000330682,NM_145653.3;	uc002lcr.1	c.1233A>G	1586/3046	4	4			c.1233A>G						18	SNP	c.(1231-1233)CAA>CAG	34	34			ovary(2)|large_intestine(1)|pancreas(1)	4	Broad	elongin A2			44560403		0.502	ENSG00000206181	15441	g.chr18:44560403T>C	regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding							140.185845	KEEP	22	33	-1	90	98	22	33	-1	155.707812	90	98	0.221198	1	0	0	0	0	0	0	1	0	--	--		0	C			KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	5	GBM-02-2470-TP	p.Q411Q	T	TTGCTTTCCTTTGTTTATCTC	NM_016427	NP_057511	44560403	Q8IYF1	ELOA2_HUMAN	0			1	1586	-	C	C			Silent	411						
TCEB3B	0	broad.mit.edu	GRCh37	18	44561319	44561319	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs146911955	byFrequency	TCGA-06-0125-01	TCGA-06-0125-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332567.4:c.317A>G	p.Gln106Arg	p.Q106R	ENST00000332567	NM_016427.2	106	cAg/cGg	0	C:0.0016	C:0.0015	1	C:0.0043		C	Q/R	uc002lcr.1	protein_coding	YES	CCDS11932.1			317/2262									ovary(2)|large_intestine(1)|pancreas(1)	4	c.(316-318)CAG>CGG			hmmpanther:PTHR15141:SF7,hmmpanther:PTHR15141	elongin A2		C:0.004	C:0.0026	ENSP00000331302	C:0.008	1-Jan	0.00502	0.00297	0.00164	0.00416	0.00166	0.00439	0.00889	0.0127	rs146911955,COSM460123	1-Jan	common_variant		ENST00000332567	Transcript		C:0.0052	regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	ENSG00000206181	g.chr18:44561319T>C	30771			MODERATE		0.41	neutral	getma.org/?cm=msa&ty=f&p=ELOA2_HUMAN&rb=79&re=278&var=Q106R	NA	getma.org/?cm=var&var=hg19,18,44561319,T,C&fts=all	Q106R	--	--	1																																		KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	0,1	1		benign(0.001)	p.Q106R	NM_016427	NP_057511	C:0.0092	tolerated(0.1)	0,1	ELOA2_HUMAN	TCEB3B	HGNC	Q8IYF1	ELOA2_HUMAN					1	670	-			UPI0000140A82	106					SNV	TCEB3B,missense_variant,p.Gln106Arg,ENST00000332567,NM_016427.2;KATNAL2,intron_variant,,ENST00000245121,NM_031303.2;KATNAL2,intron_variant,,ENST00000356157,;KATNAL2,intron_variant,,ENST00000592005,;KATNAL2,intron_variant,,ENST00000585469,;TCEB3C,upstream_gene_variant,,ENST00000330682,NM_145653.3;	uc002lcr.1	c.317A>G	670/3046	4	4			c.317A>G						18	SNP	c.(316-318)CAG>CGG	42	42			ovary(2)|large_intestine(1)|pancreas(1)	4	Broad	elongin A2			44561319		0.652	ENSG00000206181	15441	g.chr18:44561319T>C	regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding							-6.156873	KEEP	1	4	-1	37	30	1	4	-1	7.436313	37	30	0.059701	1	0	0	0	0	1	0	0	0	--	--		0	C			KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	12	GBM-06-0125-TP	p.Q106R	T	GGCCTTTTCCTGGTCCTGAAG	NM_016427	NP_057511	44561319	Q8IYF1	ELOA2_HUMAN	0			1	670	-	C	C			Missense_Mutation	106						
TCEB3B	0	broad.mit.edu	GRCh37	18	44561321	44561321	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs138936821	byFrequency	TCGA-06-0125-01	TCGA-06-0125-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332567.4:c.315C>G	p.Asp105Glu	p.D105E	ENST00000332567	NM_016427.2	105	gaC/gaG	0	C:0.0014	C:0.0015	1	C:0.0029		C	D/E	uc002lcr.1	protein_coding	YES	CCDS11932.1			315/2262									ovary(2)|large_intestine(1)|pancreas(1)	4	c.(313-315)GAC>GAG			hmmpanther:PTHR15141:SF7,hmmpanther:PTHR15141	elongin A2		C:0.001	C:0.0017	ENSP00000331302	C:0.008	1-Jan	0.00442	0.00236	0.00147	0.00127	0.00167	0.00389	0.00778	0.0125	rs138936821,COSM460122	1-Jan	common_variant		ENST00000332567	Transcript		C:0.0044	regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	ENSG00000206181	g.chr18:44561321G>C	30771			MODERATE		-0.14	neutral	getma.org/?cm=msa&ty=f&p=ELOA2_HUMAN&rb=79&re=278&var=D105E	NA	getma.org/?cm=var&var=hg19,18,44561321,G,C&fts=all	D105E	--	--	1																																		KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	0,1	1		benign(0.097)	p.D105E	NM_016427	NP_057511	C:0.0092	tolerated(0.63)	0,1	ELOA2_HUMAN	TCEB3B	HGNC	Q8IYF1	ELOA2_HUMAN					1	668	-			UPI0000140A82	105					SNV	TCEB3B,missense_variant,p.Asp105Glu,ENST00000332567,NM_016427.2;KATNAL2,intron_variant,,ENST00000245121,NM_031303.2;KATNAL2,intron_variant,,ENST00000356157,;KATNAL2,intron_variant,,ENST00000592005,;KATNAL2,intron_variant,,ENST00000585469,;TCEB3C,upstream_gene_variant,,ENST00000330682,NM_145653.3;	uc002lcr.1	c.315C>G	668/3046	3	3			c.315C>G						18	SNP	c.(313-315)GAC>GAG	8	8			ovary(2)|large_intestine(1)|pancreas(1)	4	Broad	elongin A2			44561321		0.662	ENSG00000206181	15441	g.chr18:44561321G>C	regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding							-5.226651	KEEP	0	4	-1	37	26	0	4	-1	7.93781	37	26	0.04918	1	0	0	0	0	1	0	0	0	--	--		0	C			KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	12	GBM-06-0125-TP	p.D105E	G	CCTTTTCCTGGTCCTGAAGAG	NM_016427	NP_057511	44561321	Q8IYF1	ELOA2_HUMAN	0			1	668	-	C	C			Missense_Mutation	105						
TCEB3C	0	broad.mit.edu	GRCh37	18	44554670	44554670	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330682.2:c.1544C>T	p.Ala515Val	p.A515V	ENST00000330682	NM_145653.3	515	gCg/gTg	0			1			A	A/V	uc010xdb.1	protein_coding	YES	CCDS11931.1			1544/1641										0	c.(1543-1545)GCG>GTG			hmmpanther:PTHR15141,hmmpanther:PTHR15141:SF36	transcription elongation factor B polypeptide				ENSP00000328232		1-Jan									COSM3403547	1-Jan	.		ENST00000330682	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	ENSG00000183791	g.chr18:44554670G>A	24617			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=ELOA3_HUMAN&rb=456&re=546&var=A515V	NA	getma.org/?cm=var&var=hg19,18,44554670,G,A&fts=all	A515V	--	--	1																																		KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	1	1		benign(0.028)	p.A515V	NM_145653	NP_663628		tolerated(0.23)	1	ELOA3_HUMAN	TCEB3C	HGNC	Q8NG57	ELOA3_HUMAN					1	1780	-			UPI0000140A9D	515					SNV	TCEB3C,missense_variant,p.Ala515Val,ENST00000330682,NM_145653.3;KATNAL2,intron_variant,,ENST00000245121,NM_031303.2;KATNAL2,intron_variant,,ENST00000356157,;KATNAL2,intron_variant,,ENST00000592005,;KATNAL2,intron_variant,,ENST00000585469,;TCEB3B,downstream_gene_variant,,ENST00000332567,NM_016427.2;TCEB3CL,upstream_gene_variant,,ENST00000451265,NM_001100817.1;	uc010xdb.1	c.1544C>T	1780/1877	1	1			c.1544C>T						18	SNP	c.(1543-1545)GCG>GTG	55	55				0	Broad	transcription elongation factor B polypeptide			44554670		0.373	ENSG00000183791	15442	g.chr18:44554670G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding							-96.718545	KEEP	9	14	-1	475	497	9	14	-1	7.359841	475	497	0.022059	1	0	0	0	0	1	0	0	0	--	--		0	A			KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	102	GBM-06-5858-TP	p.A515V	G	GTccgcgggcgccgcgtgccg	NM_145653	NP_663628	44554670	Q8NG57	ELOA3_HUMAN	0			1	1780	-	A	A			Missense_Mutation	515						
TCEB3C	0	broad.mit.edu	GRCh37	18	44554653	44554653	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-14-1825-01	TCGA-14-1825-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330682.2:c.1561C>T	p.Arg521Ter	p.R521*	ENST00000330682	NM_145653.3	521	Cga/Tga	0			1			A	R/*	uc010xdb.1	protein_coding	YES	CCDS11931.1			1561/1641										0	c.(1561-1563)CGA>TGA			hmmpanther:PTHR15141,hmmpanther:PTHR15141:SF36	transcription elongation factor B polypeptide				ENSP00000328232		1-Jan									COSM3403546	1-Jan	.		ENST00000330682	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	ENSG00000183791	g.chr18:44554653G>A	24617			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,18,44554653,G,A&fts=all	R521*	--	--	1																																		KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	1	1			p.R521*	NM_145653	NP_663628			1	ELOA3_HUMAN	TCEB3C	HGNC	Q8NG57	ELOA3_HUMAN					1	1797	-			UPI0000140A9D	521					SNV	TCEB3C,stop_gained,p.Arg521Ter,ENST00000330682,NM_145653.3;KATNAL2,intron_variant,,ENST00000245121,NM_031303.2;KATNAL2,intron_variant,,ENST00000356157,;KATNAL2,intron_variant,,ENST00000592005,;KATNAL2,intron_variant,,ENST00000585469,;TCEB3B,downstream_gene_variant,,ENST00000332567,NM_016427.2;TCEB3CL,upstream_gene_variant,,ENST00000451265,NM_001100817.1;	uc010xdb.1	c.1561C>T	1797/1877	5	2			c.1561C>T						18	SNP	c.(1561-1563)CGA>TGA	21	21				0	Broad	transcription elongation factor B polypeptide			44554653		0.353	ENSG00000183791	15442	g.chr18:44554653G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding							-60.123337	KEEP	13	13	-1	641	333	13	13	-1	40.538194	641	333	0.042411	1	0	0	0	0	0	1	0	0	--	--		0	A			KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	148	GBM-14-1825-TP	p.R521*	G	GCCTGTTTTCGGGTTTTGTcc	NM_145653	NP_663628	44554653	Q8NG57	ELOA3_HUMAN	0			1	1797	-	A	A			Nonsense_Mutation	521						
TCEB3C	0	broad.mit.edu	GRCh37	18	44554624	44554624	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-2521-01	TCGA-27-2521-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330682.2:c.1590G>A	p.Pro530=	p.P530=	ENST00000330682	NM_145653.3	530	ccG/ccA	0			1			T	P	uc010xdb.1	protein_coding	YES	CCDS11931.1			1590/1641										0	c.(1588-1590)CCG>CCA			hmmpanther:PTHR15141,hmmpanther:PTHR15141:SF36	transcription elongation factor B polypeptide				ENSP00000328232		1-Jan									COSM2878370	1-Jan	.		ENST00000330682	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	ENSG00000183791	g.chr18:44554624C>T	24617			LOW								--	--	1																																		KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	1	1			p.P530P	NM_145653	NP_663628			1	ELOA3_HUMAN	TCEB3C	HGNC	Q8NG57	ELOA3_HUMAN					1	1826	-			UPI0000140A9D	530					SNV	TCEB3C,synonymous_variant,p.=,ENST00000330682,NM_145653.3;KATNAL2,intron_variant,,ENST00000245121,NM_031303.2;KATNAL2,intron_variant,,ENST00000356157,;KATNAL2,intron_variant,,ENST00000592005,;KATNAL2,intron_variant,,ENST00000585469,;TCEB3B,downstream_gene_variant,,ENST00000332567,NM_016427.2;TCEB3CL,upstream_gene_variant,,ENST00000451265,NM_001100817.1;	uc010xdb.1	c.1590G>A	1826/1877	1	1			c.1590G>A						18	SNP	c.(1588-1590)CCG>CCA	11	11				0	Broad	transcription elongation factor B polypeptide			44554624		0.368	ENSG00000183791	15442	g.chr18:44554624C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding							-80.206801	KEEP	10	6	-1	432	427	10	6	-1	19.927522	432	427	0.027094	1	0	0	0	0	0	0	1	0	--	--		0	T			KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	200	GBM-27-2521-TP	p.P530P	C	TGGCCATCAGCGGGGCCACTT	NM_145653	NP_663628	44554624	Q8NG57	ELOA3_HUMAN	0			1	1826	-	T	T			Silent	530						
TCF12	6938	broad.mit.edu	GRCh37	15	57555309	57555309	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C			TCGA-06-0128-01	TCGA-06-0128-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000438423.2:c.1583-1G>C		p.X528_splice	ENST00000438423	NM_207037.1	528		0			1			C		uc002aec.2	protein_coding		CCDS10159.1			1511/2049	T		TEC		extraskeletal myxoid chondrosarcoma			p.?(1)	central_nervous_system(5)|ovary(2)|lung(1)	8	c.e17-1				transcription factor 12 isoform b				ENSP00000267811											COSM3401844,COSM3401843,COSM3401845		.		ENST00000267811	Transcript	1		immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	ENSG00000140262	g.chr15:57555309G>C	11623			HIGH	16/19							--	--	1																																		TCF12_uc010ugm.1_Splice_Site_p.G556_splice|TCF12_uc010ugn.1_Splice_Site_p.G524_splice|TCF12_uc002aea.2_Splice_Site_p.G528_splice|TCF12_uc010bfs.2_Intron|TCF12_uc002aeb.2_Splice_Site_p.G528_splice|TCF12_uc002aed.2_Splice_Site_p.G504_splice|TCF12_uc002aee.2_Splice_Site_p.G334_splice|TCF12_uc010bft.2_Splice_Site_p.G358_splice|TCF12_uc010ugo.1_Splice_Site_p.G268_splice|TCF12_uc010ugp.1_Splice_Site_p.G162_splice|TCF12_uc010ugq.1_Splice_Site_p.G138_splice|TCF12_uc010ugr.1_Splice_Site_p.G117_splice	1,1,1				p.G504_splice	NM_207038	NP_996921			1,1,1	HTF4_HUMAN	TCF12	HGNC	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	Q9NQY9_HUMAN,Q9NQY7_HUMAN,Q9NQY6_HUMAN,Q9NQY5_HUMAN,Q9NQY4_HUMAN,Q9NQY2_HUMAN,Q9NQY1_HUMAN,H0YNQ5_HUMAN		17	1795	+		Colorectal(260;0.0907)	UPI000003B45E						SNV	TCF12,splice_acceptor_variant,,ENST00000267811,NM_003205.3,NM_207038.1;TCF12,splice_acceptor_variant,,ENST00000438423,NM_207037.1,NM_207036.1;TCF12,splice_acceptor_variant,,ENST00000452095,;TCF12,splice_acceptor_variant,,ENST00000333725,;TCF12,splice_acceptor_variant,,ENST00000557843,;TCF12,splice_acceptor_variant,,ENST00000343827,NM_207040.1;TCF12,splice_acceptor_variant,,ENST00000559609,;TCF12,splice_acceptor_variant,,ENST00000543579,;TCF12,splice_acceptor_variant,,ENST00000537840,;TCF12,splice_acceptor_variant,,ENST00000559703,;TCF12,splice_acceptor_variant,,ENST00000559710,;TCF12,splice_acceptor_variant,,ENST00000561449,;TCF12,splice_acceptor_variant,,ENST00000561420,;TCF12,splice_acceptor_variant,,ENST00000560506,;TCF12,intron_variant,,ENST00000560190,;TCF12,downstream_gene_variant,,ENST00000558210,;	uc002aec.2	c.1511_splice	-/6061	5	3			c.1511_splice	T		TEC		extraskeletal myxoid chondrosarcoma	15	SNP	c.e17-1	3	3		p.?(1)	central_nervous_system(5)|ovary(2)|lung(1)	8	Broad	transcription factor 12 isoform b			57555309		0.358	ENSG00000140262	15445	g.chr15:57555309G>C	immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			335			335	65.486682	KEEP	9	13	-1	18	21	9	13	-1	66.186518	18	21	0.377358	1	0	0	0	0	0	0	0	1	--	--		0	C			TCF12_uc010ugm.1_Splice_Site_p.G556_splice|TCF12_uc010ugn.1_Splice_Site_p.G524_splice|TCF12_uc002aea.2_Splice_Site_p.G528_splice|TCF12_uc010bfs.2_Intron|TCF12_uc002aeb.2_Splice_Site_p.G528_splice|TCF12_uc002aed.2_Splice_Site_p.G504_splice|TCF12_uc002aee.2_Splice_Site_p.G334_splice|TCF12_uc010bft.2_Splice_Site_p.G358_splice|TCF12_uc010ugo.1_Splice_Site_p.G268_splice|TCF12_uc010ugp.1_Splice_Site_p.G162_splice|TCF12_uc010ugq.1_Splice_Site_p.G138_splice|TCF12_uc010ugr.1_Splice_Site_p.G117_splice	14	GBM-06-0128-TP	p.G504_splice	G	CTCTTTGTTAGGTGGCTTGCA	NM_207038	NP_996921	57555309	Q99081	HTF4_HUMAN	0		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	17	1795	+	C	C		Colorectal(260;0.0907)	Splice_Site							
TCF12	6938	broad.mit.edu	GRCh37	15	57524624	57524624	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-06-5414-01	TCGA-06-5414-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000438423.2:c.821del	p.Arg274ProfsTer2	p.R274Pfs*2	ENST00000438423	NM_207037.1	274	cGc/cc	0			1			-	R/X	uc002aec.2	protein_coding		CCDS10159.1			821/2049	T		TEC		extraskeletal myxoid chondrosarcoma				central_nervous_system(5)|ovary(2)|lung(1)	8	c.(820-822)CGCfs			hmmpanther:PTHR11793:SF11,hmmpanther:PTHR11793	transcription factor 12 isoform b				ENSP00000267811		20-Oct										20-Oct	.		ENST00000267811	Transcript	1		immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	ENSG00000140262	g.chr15:57524624delG	11623			HIGH								--	--	1																																		TCF12_uc010ugm.1_Frame_Shift_Del_p.R326fs|TCF12_uc010ugn.1_Frame_Shift_Del_p.R270fs|TCF12_uc002aea.2_Frame_Shift_Del_p.R274fs|TCF12_uc010bfs.2_Intron|TCF12_uc002aeb.2_Frame_Shift_Del_p.R274fs|TCF12_uc002aed.2_Frame_Shift_Del_p.R274fs|TCF12_uc002aee.2_Frame_Shift_Del_p.R104fs|TCF12_uc010bft.2_Frame_Shift_Del_p.R104fs|TCF12_uc010ugo.1_Intron					p.R274fs	NM_207038	NP_996921				HTF4_HUMAN	TCF12	HGNC	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	Q9NQY9_HUMAN,Q9NQY7_HUMAN,Q9NQY6_HUMAN,Q9NQY5_HUMAN,Q9NQY4_HUMAN,Q9NQY2_HUMAN,Q9NQY1_HUMAN,H0YNQ5_HUMAN		10	1105	+		Colorectal(260;0.0907)	UPI000003B45E	274					deletion	TCF12,frameshift_variant,p.Arg274ProfsTer2,ENST00000267811,NM_003205.3,NM_207038.1;TCF12,frameshift_variant,p.Arg274ProfsTer2,ENST00000438423,NM_207037.1,NM_207036.1;TCF12,frameshift_variant,p.Arg270ProfsTer2,ENST00000452095,;TCF12,frameshift_variant,p.Arg274ProfsTer2,ENST00000333725,;TCF12,frameshift_variant,p.Arg274ProfsTer2,ENST00000557843,;TCF12,frameshift_variant,p.Arg104ProfsTer2,ENST00000343827,NM_207040.1;TCF12,frameshift_variant,p.Arg270ProfsTer2,ENST00000559609,;TCF12,frameshift_variant,p.Arg104ProfsTer2,ENST00000543579,;TCF12,intron_variant,,ENST00000537840,;TCF12,non_coding_transcript_exon_variant,,ENST00000561346,;TCF12,non_coding_transcript_exon_variant,,ENST00000561235,;TCF12,intron_variant,,ENST00000560764,;TCF12,intron_variant,,ENST00000560190,;TCF12,downstream_gene_variant,,ENST00000560887,;	uc002aec.2	c.821delG	1125/6061	5	5			c.821delG	T		TEC		extraskeletal myxoid chondrosarcoma	15	DEL	c.(820-822)CGCfs	56	56			central_nervous_system(5)|ovary(2)|lung(1)	8	Broad	transcription factor 12 isoform b			57524624		0.443	ENSG00000140262	15445	g.chr15:57524624delG	immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		p.R274H(CCK81-Tumor)	335		p.R274H(CCK81-Tumor)	335														0.19	1	1	0	1	0	0	0	0	0	--	--		0	-			TCF12_uc010ugm.1_Frame_Shift_Del_p.R326fs|TCF12_uc010ugn.1_Frame_Shift_Del_p.R270fs|TCF12_uc002aea.2_Frame_Shift_Del_p.R274fs|TCF12_uc010bfs.2_Intron|TCF12_uc002aeb.2_Frame_Shift_Del_p.R274fs|TCF12_uc002aed.2_Frame_Shift_Del_p.R274fs|TCF12_uc002aee.2_Frame_Shift_Del_p.R104fs|TCF12_uc010bft.2_Frame_Shift_Del_p.R104fs|TCF12_uc010ugo.1_Intron	97	GBM-06-5414-TP	p.R274fs	G	TCACATGACCGCTTGGTAGGC	NM_207038	NP_996921	57524624	Q99081	HTF4_HUMAN	0		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	10	1105	+	-	-		Colorectal(260;0.0907)	Frame_Shift_Del	274						
TCF12	0	broad.mit.edu	GRCh37	15	57543615	57543615	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267811.5:c.1182C>G	p.His394Gln	p.H394Q	ENST00000267811	NM_003205.3	394	caC/caG	0			1			G	H/Q	uc002aec.2	protein_coding		CCDS10159.1			1182/2049	T		TEC		extraskeletal myxoid chondrosarcoma				central_nervous_system(5)|ovary(2)|lung(1)	8	c.(1180-1182)CAC>CAG			hmmpanther:PTHR11793:SF11,hmmpanther:PTHR11793	transcription factor 12 isoform b				ENSP00000267811		14/20									COSM2156062,COSM2156063,COSM2156061,COSM2156064	14/20	.		ENST00000267811	Transcript	1		immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	ENSG00000140262	g.chr15:57543615C>G	11623			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=HTF4_HUMAN&rb=201&re=400&var=H394Q	NA	getma.org/?cm=var&var=hg19,15,57543615,C,G&fts=all	H394Q	--	--	1																																		TCF12_uc010ugm.1_Missense_Mutation_p.H446Q|TCF12_uc010ugn.1_Missense_Mutation_p.H390Q|TCF12_uc002aea.2_Missense_Mutation_p.H394Q|TCF12_uc010bfs.2_Intron|TCF12_uc002aeb.2_Missense_Mutation_p.H394Q|TCF12_uc002aed.2_Missense_Mutation_p.H394Q|TCF12_uc002aee.2_Missense_Mutation_p.H224Q|TCF12_uc010bft.2_Missense_Mutation_p.H224Q|TCF12_uc010ugo.1_Missense_Mutation_p.H158Q|TCF12_uc010ugp.1_Missense_Mutation_p.H28Q|TCF12_uc010ugq.1_Missense_Mutation_p.H28Q|TCF12_uc010ugr.1_5'Flank	1,1,1,1			possibly_damaging(0.78)	p.H394Q	NM_207038	NP_996921		tolerated(0.15)	1,1,1,1	HTF4_HUMAN	TCF12	HGNC	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	Q9NQY9_HUMAN,Q9NQY7_HUMAN,Q9NQY6_HUMAN,Q9NQY5_HUMAN,Q9NQY4_HUMAN,Q9NQY2_HUMAN,Q9NQY1_HUMAN,H0YNQ5_HUMAN		14	1466	+		Colorectal(260;0.0907)	UPI000003B45E	394					SNV	TCF12,missense_variant,p.His394Gln,ENST00000267811,NM_003205.3,NM_207038.1;TCF12,missense_variant,p.His394Gln,ENST00000438423,NM_207037.1,NM_207036.1;TCF12,missense_variant,p.His390Gln,ENST00000452095,;TCF12,missense_variant,p.His394Gln,ENST00000333725,;TCF12,missense_variant,p.His394Gln,ENST00000557843,;TCF12,missense_variant,p.His224Gln,ENST00000343827,NM_207040.1;TCF12,missense_variant,p.His390Gln,ENST00000559609,;TCF12,missense_variant,p.His224Gln,ENST00000543579,;TCF12,missense_variant,p.His158Gln,ENST00000537840,;TCF12,missense_variant,p.His28Gln,ENST00000559703,;TCF12,missense_variant,p.His28Gln,ENST00000559710,;TCF12,non_coding_transcript_exon_variant,,ENST00000560764,;TCF12,non_coding_transcript_exon_variant,,ENST00000561420,;TCF12,non_coding_transcript_exon_variant,,ENST00000558210,;TCF12,non_coding_transcript_exon_variant,,ENST00000560506,;TCF12,intron_variant,,ENST00000560190,;TCF12,upstream_gene_variant,,ENST00000561449,;HNRNPA3P11,upstream_gene_variant,,ENST00000564298,;	uc002aec.2	c.1182C>G	1486/6061	4	4			c.1182C>G	T		TEC		extraskeletal myxoid chondrosarcoma	15	SNP	c.(1180-1182)CAC>CAG	23	23			central_nervous_system(5)|ovary(2)|lung(1)	8	Broad	transcription factor 12 isoform b			57543615		0.448	ENSG00000140262	15445	g.chr15:57543615C>G	immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			335			335	46.336205	KEEP	7	10	-1	12	21	7	10	-1	47.369329	12	21	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	G			TCF12_uc010ugm.1_Missense_Mutation_p.H446Q|TCF12_uc010ugn.1_Missense_Mutation_p.H390Q|TCF12_uc002aea.2_Missense_Mutation_p.H394Q|TCF12_uc010bfs.2_Intron|TCF12_uc002aeb.2_Missense_Mutation_p.H394Q|TCF12_uc002aed.2_Missense_Mutation_p.H394Q|TCF12_uc002aee.2_Missense_Mutation_p.H224Q|TCF12_uc010bft.2_Missense_Mutation_p.H224Q|TCF12_uc010ugo.1_Missense_Mutation_p.H158Q|TCF12_uc010ugp.1_Missense_Mutation_p.H28Q|TCF12_uc010ugq.1_Missense_Mutation_p.H28Q|TCF12_uc010ugr.1_5'Flank	160	GBM-19-1790-TP	p.H394Q	C	ACTCACTCCACTCCCTGGTAA	NM_207038	NP_996921	57543615	Q99081	HTF4_HUMAN	0		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	14	1466	+	G	G		Colorectal(260;0.0907)	Missense_Mutation	394						
TCF12	6938		GRCh37	15	57565229	57565244	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	AGTACTAATGAAGATG	AGTACTAATGAAGATG	-			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000438423.2:c.1749_1764del	p.Ser583ArgfsTer3	p.S583Rfs*3	ENST00000438423	NM_207037.1	583	AGTACTAATGAAGATGag/ag	0																																																																																																																																																																																																																																												
TCF20	0	broad.mit.edu	GRCh37	22	42610776	42610778	+	inframe_deletion	In_Frame_Del	DEL	TGC	TGC	-			TCGA-32-4211-01	TCGA-32-4211-01	TGC	TGC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359486.3:c.534_536delGCA	p.Gln179del	p.Q179del	ENST00000359486	NM_005650.2	178	caGCAa/caa	0			1			-	QQ/Q	uc003bcj.1	protein_coding	YES	CCDS14033.1			534-536/5883									ovary(4)|skin(1)	5	c.(532-537)CAGCAA>CAA			hmmpanther:PTHR14955,hmmpanther:PTHR14955:SF7,Low_complexity_(Seg):seg	transcription factor 20 isoform 1				ENSP00000352463		5-Jan									rs765666116,COSM1721369	5-Jan	.		ENST00000359486	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	ENSG00000100207	g.chr22:42610776_42610778delTGC	11631			MODERATE								--	--	1																																		TCF20_uc003bck.1_In_Frame_Del_p.178_179QQ>Q|TCF20_uc003bnt.2_In_Frame_Del_p.178_179QQ>Q	0,1	1			p.178_179QQ>Q	NM_005650	NP_005641			0,1	TCF20_HUMAN	TCF20	HGNC	Q9UGU0	TCF20_HUMAN			I3L1M7_HUMAN		1	668_670	-			UPI00001A95D9	178_179			Poly-Gln.		deletion	TCF20,inframe_deletion,p.Gln179del,ENST00000359486,NM_005650.2;TCF20,inframe_deletion,p.Gln179del,ENST00000335626,NM_181492.2;TCF20,upstream_gene_variant,,ENST00000404876,;TCF20,downstream_gene_variant,,ENST00000515426,;	uc003bcj.1	c.534_536delGCA	671-673/7410	5	5			c.534_536delGCA						22	DEL	c.(532-537)CAGCAA>CAA	6	6			ovary(4)|skin(1)	5	Broad	transcription factor 20 isoform 1			42610778		0.571	ENSG00000100207	15447	g.chr22:42610776_42610778delTGC	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding																				0.03	1	1	0	1	0	0	0	0	0	--	--		0	-			TCF20_uc003bck.1_In_Frame_Del_p.178_179QQ>Q|TCF20_uc003bnt.2_In_Frame_Del_p.178_179QQ>Q	246	GBM-32-4211-TP	p.178_179QQ>Q	TGC	CTGCTGGACTTGCTGCTGCTGCT	NM_005650	NP_005641	42610776	Q9UGU0	TCF20_HUMAN	0			1	668_670	-	-	-			In_Frame_Del	178_179			Poly-Gln.			
TCF20	0	broad.mit.edu	GRCh37	22	42609517	42609517	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6191-01	TCGA-76-6191-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359486.3:c.1795G>T	p.Val599Phe	p.V599F	ENST00000359486	NM_005650.2	599	Gtt/Ttt	0			1			A	V/F	uc003bcj.1	protein_coding	YES	CCDS14033.1			1795/5883									ovary(4)|skin(1)	5	c.(1795-1797)GTT>TTT			hmmpanther:PTHR14955,hmmpanther:PTHR14955:SF7	transcription factor 20 isoform 1				ENSP00000352463		5-Jan										5-Jan	.		ENST00000359486	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	ENSG00000100207	g.chr22:42609517C>A	11631			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=TCF20_HUMAN&rb=490&re=1239&var=V599F	NA	getma.org/?cm=var&var=hg19,22,42609517,C,A&fts=all	V599F	--	--	1																																		TCF20_uc003bck.1_Missense_Mutation_p.V599F|TCF20_uc003bnt.2_Missense_Mutation_p.V599F		1		possibly_damaging(0.495)	p.V599F	NM_005650	NP_005641				TCF20_HUMAN	TCF20	HGNC	Q9UGU0	TCF20_HUMAN			I3L1M7_HUMAN		1	1929	-			UPI00001A95D9	599					SNV	TCF20,missense_variant,p.Val599Phe,ENST00000359486,NM_005650.2;TCF20,missense_variant,p.Val599Phe,ENST00000335626,NM_181492.2;TCF20,upstream_gene_variant,,ENST00000404876,;TCF20,downstream_gene_variant,,ENST00000515426,;	uc003bcj.1	c.1795G>T	1932/7410	2	2			c.1795G>T						22	SNP	c.(1795-1797)GTT>TTT	21	21			ovary(4)|skin(1)	5	Broad	transcription factor 20 isoform 1			42609517		0.542	ENSG00000100207	15447	g.chr22:42609517C>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding							133.644422	KEEP	37	17	0.314814815	42	44	37	17	0.314814815	135.388491	42	44	0.371901	1	0	0	0	0	1	0	0	0	--	--		0	A			TCF20_uc003bck.1_Missense_Mutation_p.V599F|TCF20_uc003bnt.2_Missense_Mutation_p.V599F	274	GBM-76-6191-TP	p.V599F	C	TTCTCATTAACCTTTGGGTTC	NM_005650	NP_005641	42609517	Q9UGU0	TCF20_HUMAN	0			1	1929	-	A	A			Missense_Mutation	599						
TCF21	6943	broad.mit.edu	GRCh37	6	134210609	134210609	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0171-01	TCGA-06-0171-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367882.4:c.74T>C	p.Met25Thr	p.M25T	ENST00000367882	NM_003206.3	25	aTg/aCg	0			1			C	M/T	uc003qei.3	protein_coding		CCDS5167.1			74/540										0	c.(73-75)ATG>ACG			hmmpanther:PTHR23349,hmmpanther:PTHR23349:SF51	transcription factor 21				ENSP00000237316		3-Jan	8.24E-06					1.50E-05			rs775850686,COSM2150323	3-Jan	.		ENST00000237316	Transcript			branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	ENSG00000118526	g.chr6:134210609T>C	11632			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=TCF21_HUMAN&rb=1&re=79&var=M25T	NA	getma.org/?cm=var&var=hg19,6,134210609,T,C&fts=all	M25T	--	--	1																																		uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.M25T	0,1			benign(0.003)	p.M25T	NM_003206	NP_003197		tolerated_low_confidence(0.43)	0,1	TCF21_HUMAN	TCF21	HGNC	O43680	TCF21_HUMAN		GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)			1	350	+	Colorectal(23;0.221)|Breast(56;0.247)		UPI0000001290	25					SNV	TCF21,missense_variant,p.Met25Thr,ENST00000367882,NM_003206.3;TCF21,missense_variant,p.Met25Thr,ENST00000237316,NM_198392.2;RP3-323P13.2,intron_variant,,ENST00000607573,;RP3-323P13.2,upstream_gene_variant,,ENST00000607033,;RP3-323P13.2,upstream_gene_variant,,ENST00000606544,;RP3-323P13.2,upstream_gene_variant,,ENST00000607641,;	uc003qei.3	c.74T>C	137/3010	4	4			c.74T>C						6	SNP	c.(73-75)ATG>ACG	48	48				0	Broad	transcription factor 21			134210609		0.542	ENSG00000118526	15448	g.chr6:134210609T>C	branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			20			20	151.761053	KEEP	23	30	-1	32	34	23	30	-1	152.0461	32	34	0.445455	1	0	0	0	0	1	0	0	0	--	--		0	C			uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.M25T	35	GBM-06-0171-TP	p.M25T	T	GGGTTGAAAATGGATTCGAAC	NM_003206	NP_003197	134210609	O43680	TCF21_HUMAN	0		GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)	1	350	+	C	C	Colorectal(23;0.221)|Breast(56;0.247)		Missense_Mutation	25						
TCF23	150921	broad.mit.edu	GRCh37	2	27373157	27373157	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01	TCGA-06-0185-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296096.5:c.389G>A	p.Arg130His	p.R130H	ENST00000296096	NM_175769.2	130	cGc/cAc	0			1			A	R/H	uc010ylg.1	protein_coding	YES	CCDS33163.1			389/645										0	c.(388-390)CGC>CAC			hmmpanther:PTHR23349,hmmpanther:PTHR23349:SF43,Gene3D:4.10.280.10,SMART_domains:SM00353,Superfamily_domains:SSF47459	transcription factor 23				ENSP00000296096		3-Feb									COSM2913312	3-Feb	.		ENST00000296096	Transcript			cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus		ENSG00000163792	g.chr2:27373157G>A	18602			MODERATE		0.525	neutral	getma.org/?cm=msa&ty=f&p=TCF23_HUMAN&rb=89&re=132&var=R130H	NA	getma.org/?cm=var&var=hg19,2,27373157,G,A&fts=all	R130H	--	--	1																																			1	1		benign(0.025)	p.R130H	NM_175769	NP_786951		tolerated(0.16)	1	TCF23_HUMAN	TCF23	HGNC	Q7RTU1	TCF23_HUMAN					2	389	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		UPI00001AEC06	130			Helix-loop-helix motif.		SNV	TCF23,missense_variant,p.Arg130His,ENST00000296096,NM_175769.2;TCF23,downstream_gene_variant,,ENST00000407815,;	uc010ylg.1	c.389G>A	519/1418	2	2			c.389G>A						2	SNP	c.(388-390)CGC>CAC	36	36				0	Broad	transcription factor 23			27373157		0.652	ENSG00000163792	15449	g.chr2:27373157G>A	cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus								-78.008103	KEEP	3	3	-1	166	188	3	3	-1	8.278559	166	188	0.018182	1	0	0	0	0	1	0	0	0	--	--		0	A				40	GBM-06-0185-TP	p.R130H	G	CACCTCACCCGCACACTCGGC	NM_175769	NP_786951	27373157	Q7RTU1	TCF23_HUMAN	0			2	389	+	A	A	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Missense_Mutation	130			Helix-loop-helix motif.			
TCF3	6929	broad.mit.edu	GRCh37	19	1623996	1623996	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01	TCGA-06-2565-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344749.5:c.503C>T	p.Thr168Met	p.T168M	ENST00000344749	NM_001136139.2	168	aCg/aTg	0			1			A	T/M	uc002ltr.2	protein_coding	YES	CCDS12074.1			503/1965	T		PBX1|HLF|TFPT		pre B-ALL				lung(2)|breast(2)|ovary(1)|large_intestine(1)|skin(1)	7	c.(502-504)ACG>ATG			hmmpanther:PTHR11793,hmmpanther:PTHR11793:SF7	transcription factor 3 isoform E12				ENSP00000262965		19-Aug	6.60E-05				0.000163	0.000108			rs748050498,COSM178222,COSM3403890	19-Aug	.		ENST00000262965	Transcript	1		B cell lineage commitment|B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	ENSG00000071564	g.chr19:1623996G>A	11633			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=TFE2_HUMAN&rb=1&re=200&var=T168M	NA	getma.org/?cm=var&var=hg19,19,1623996,G,A&fts=all	T168M	--	--	1																																		TCF3_uc002lto.2_5'Flank|TCF3_uc002ltt.3_Missense_Mutation_p.T168M|TCF3_uc002ltq.2_Missense_Mutation_p.T117M|TCF3_uc002lts.1_Missense_Mutation_p.T84M	0,1,1	1		benign(0.433)	p.T168M	NM_003200	NP_003191		tolerated(0.22)	0,1,1	TFE2_HUMAN	TCF3	HGNC	P15923	TFE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Q6PJU3_HUMAN,K7EPS2_HUMAN,K7ENI0_HUMAN,K7EKB9_HUMAN,B1NYC3_HUMAN		8	570	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	UPI0000136C80	168					SNV	TCF3,missense_variant,p.Thr168Met,ENST00000262965,NM_003200.3;TCF3,missense_variant,p.Thr168Met,ENST00000344749,NM_001136139.2;TCF3,missense_variant,p.Thr84Met,ENST00000453954,;TCF3,missense_variant,p.Thr168Met,ENST00000588136,;TCF3,missense_variant,p.Thr117Met,ENST00000395423,;TCF3,missense_variant,p.Thr197Met,ENST00000587235,;TCF3,upstream_gene_variant,,ENST00000593064,;TCF3,upstream_gene_variant,,ENST00000592628,;TCF3,upstream_gene_variant,,ENST00000590436,;TCF3,upstream_gene_variant,,ENST00000586410,;TCF3,upstream_gene_variant,,ENST00000585855,;TCF3,upstream_gene_variant,,ENST00000590605,;	uc002ltr.2	c.503C>T	848/4723	2	2			c.503C>T	T		PBX1|HLF|TFPT		pre B-ALL	19	SNP	c.(502-504)ACG>ATG	43	43			lung(2)|breast(2)|ovary(1)|large_intestine(1)|skin(1)	7	Broad	transcription factor 3 isoform E12			1623996		0.612	ENSG00000071564	15451	g.chr19:1623996G>A	B cell lineage commitment|B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			128			128	25.899053	KEEP	4	11	-1	33	38	4	11	-1	33.236763	33	38	0.181818	1	0	0	0	0	1	0	0	0	--	--		0	A			TCF3_uc002lto.2_5'Flank|TCF3_uc002ltt.3_Missense_Mutation_p.T168M|TCF3_uc002ltq.2_Missense_Mutation_p.T117M|TCF3_uc002lts.1_Missense_Mutation_p.T84M	88	GBM-06-2565-TP	p.T168M	G	CTTGGGCTGCGTGTCTGTTAG	NM_003200	NP_003191	1623996	P15923	TFE2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	570	-	A	A		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	Missense_Mutation	168						
TCF3	0	broad.mit.edu	GRCh37	19	1619469	1619469	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262965.5:c.1172G>C	p.Ser391Thr	p.S391T	ENST00000262965	NM_003200.3	391	aGt/aCt	0			1			G	S/T	uc002ltr.2	protein_coding	YES	CCDS12074.1			1172/1965	T		PBX1|HLF|TFPT		pre B-ALL				lung(2)|breast(2)|ovary(1)|large_intestine(1)|skin(1)	7	c.(1171-1173)AGT>ACT			hmmpanther:PTHR11793,hmmpanther:PTHR11793:SF7	transcription factor 3 isoform E12				ENSP00000262965		15/19									COSM2156105,COSM2156106	15/19	.		ENST00000262965	Transcript	1		B cell lineage commitment|B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	ENSG00000071564	g.chr19:1619469C>G	11633			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=TFE2_HUMAN&rb=389&re=425&var=S391T	NA	getma.org/?cm=var&var=hg19,19,1619469,C,G&fts=all	S391T	--	--	1																																		TCF3_uc002lto.2_Missense_Mutation_p.S152T|TCF3_uc002ltt.3_Missense_Mutation_p.S391T|TCF3_uc002ltq.2_Missense_Mutation_p.S340T|TCF3_uc002lts.1_Missense_Mutation_p.S307T|TCF3_uc010dso.1_Intron	1,1	1		benign(0.003)	p.S391T	NM_003200	NP_003191		tolerated(0.12)	1,1	TFE2_HUMAN	TCF3	HGNC	P15923	TFE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Q6PJU3_HUMAN,K7EPS2_HUMAN,K7ENI0_HUMAN,K7EKB9_HUMAN,B1NYC3_HUMAN		15	1239	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	UPI0000136C80	391			Leucine-zipper.		SNV	TCF3,missense_variant,p.Ser391Thr,ENST00000262965,NM_003200.3;TCF3,missense_variant,p.Ser391Thr,ENST00000344749,NM_001136139.2;TCF3,missense_variant,p.Ser307Thr,ENST00000453954,;TCF3,missense_variant,p.Ser391Thr,ENST00000588136,;TCF3,missense_variant,p.Ser340Thr,ENST00000395423,;TCF3,missense_variant,p.Ser11Thr,ENST00000590436,;TCF3,intron_variant,,ENST00000586410,;TCF3,upstream_gene_variant,,ENST00000585731,;TCF3,upstream_gene_variant,,ENST00000593064,;TCF3,downstream_gene_variant,,ENST00000587235,;TCF3,upstream_gene_variant,,ENST00000592628,;TCF3,upstream_gene_variant,,ENST00000590684,;TCF3,upstream_gene_variant,,ENST00000587425,;RNU6-1223P,upstream_gene_variant,,ENST00000517124,;TCF3,non_coding_transcript_exon_variant,,ENST00000590605,;TCF3,upstream_gene_variant,,ENST00000592395,;TCF3,upstream_gene_variant,,ENST00000585855,;TCF3,upstream_gene_variant,,ENST00000586164,;	uc002ltr.2	c.1172G>C	1517/4723	4	4			c.1172G>C	T		PBX1|HLF|TFPT		pre B-ALL	19	SNP	c.(1171-1173)AGT>ACT	32	32			lung(2)|breast(2)|ovary(1)|large_intestine(1)|skin(1)	7	Broad	transcription factor 3 isoform E12			1619469		0.682	ENSG00000071564	15451	g.chr19:1619469C>G	B cell lineage commitment|B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			128			128	18.508401	KEEP	4	6	-1	14	16	4	6	-1	21.035341	14	16	0.212121	1	0	0	0	0	1	0	0	0	--	--		0	G			TCF3_uc002lto.2_Missense_Mutation_p.S152T|TCF3_uc002ltt.3_Missense_Mutation_p.S391T|TCF3_uc002ltq.2_Missense_Mutation_p.S340T|TCF3_uc002lts.1_Missense_Mutation_p.S307T|TCF3_uc010dso.1_Intron	160	GBM-19-1790-TP	p.S391T	C	TTCTATCTTACTCTGCTGCAG	NM_003200	NP_003191	1619469	P15923	TFE2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	15	1239	-	G	G		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	Missense_Mutation	391			Leucine-zipper.			
TCF4	6925	broad.mit.edu	GRCh37	18	52921829	52921829	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01	TCGA-06-2558-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398339.1:c.1555G>A	p.Asp519Asn	p.D519N	ENST00000398339	NM_001243226.1	519	Gac/Aac	0			1			T	D/N	uc002lfz.2	protein_coding		CCDS11960.1			1249/2004									ovary(1)|lung(1)	2	c.(1249-1251)GAC>AAC			hmmpanther:PTHR11793,hmmpanther:PTHR11793:SF10	transcription factor 4 isoform b				ENSP00000348374		15/20									COSM2152581,COSM2152582,COSM3403566	15/20	.		ENST00000356073	Transcript	1		positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	ENSG00000196628	g.chr18:52921829C>T	11634			MODERATE		2.5	medium	getma.org/?cm=msa&ty=f&p=ITF2_HUMAN&rb=401&re=564&var=D417N	NA	getma.org/?cm=var&var=hg19,18,52921829,C,T&fts=all	D417N	--	--	1																																		TCF4_uc002lfw.3_Missense_Mutation_p.D257N|TCF4_uc010xdu.1_Missense_Mutation_p.D287N|TCF4_uc010xdv.1_Missense_Mutation_p.D287N|TCF4_uc002lfx.2_Missense_Mutation_p.D346N|TCF4_uc010xdw.1_Missense_Mutation_p.D287N|TCF4_uc002lfy.2_Missense_Mutation_p.D375N|TCF4_uc010xdx.1_Missense_Mutation_p.D393N|TCF4_uc010dph.1_Missense_Mutation_p.D417N|TCF4_uc010xdy.1_Missense_Mutation_p.D393N|TCF4_uc002lga.2_Missense_Mutation_p.D519N|TCF4_uc002lgb.1_Missense_Mutation_p.D257N|TCF4_uc010dpi.2_Missense_Mutation_p.D423N|TCF4_uc002lfv.2_Missense_Mutation_p.D200N	1,1,1			benign(0.146)	p.D417N	NM_003199	NP_003190		deleterious(0)	1,1,1	ITF2_HUMAN	TCF4	HGNC	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	K7ERJ0_HUMAN,H3BUQ3_HUMAN,H3BTM9_HUMAN,H3BTC3_HUMAN,H3BT24_HUMAN,H3BSX3_HUMAN,H3BRF7_HUMAN,H3BPG3_HUMAN,H3BP59_HUMAN,H3BNZ2_HUMAN,H3BNI2_HUMAN,H3BME8_HUMAN,H3BMC8_HUMAN,G0LNV2_HUMAN,G0LNT8_HUMAN,G0LNT7_HUMAN,G0LNT4_HUMAN,G0LNT3_HUMAN		15	1861	-			UPI000012DA19	417					SNV	TCF4,missense_variant,p.Asp417Asn,ENST00000354452,NM_001083962.1;TCF4,missense_variant,p.Asp417Asn,ENST00000356073,NM_003199.2;TCF4,missense_variant,p.Asp393Asn,ENST00000537578,NM_001243227.1;TCF4,missense_variant,p.Asp423Asn,ENST00000564403,NM_001243228.1;TCF4,missense_variant,p.Asp392Asn,ENST00000568740,;TCF4,missense_variant,p.Asp393Asn,ENST00000540999,;TCF4,missense_variant,p.Asp519Asn,ENST00000398339,NM_001243226.1;TCF4,missense_variant,p.Asp257Asn,ENST00000457482,;TCF4,missense_variant,p.Asp417Asn,ENST00000565018,;TCF4,missense_variant,p.Asp393Asn,ENST00000568673,;TCF4,missense_variant,p.Asp417Asn,ENST00000564999,;TCF4,missense_variant,p.Asp375Asn,ENST00000543082,NM_001243231.1;TCF4,missense_variant,p.Asp346Asn,ENST00000544241,NM_001243232.1;TCF4,missense_variant,p.Asp287Asn,ENST00000561992,NM_001243233.1;TCF4,missense_variant,p.Asp357Asn,ENST00000566279,;TCF4,missense_variant,p.Asp414Asn,ENST00000566286,NM_001243230.1;TCF4,missense_variant,p.Asp357Asn,ENST00000567880,;TCF4,missense_variant,p.Asp287Asn,ENST00000537856,;TCF4,missense_variant,p.Asp346Asn,ENST00000564228,;TCF4,missense_variant,p.Asp257Asn,ENST00000570287,NM_001243235.1,NM_001243234.1;TCF4,missense_variant,p.Asp287Asn,ENST00000570177,;TCF4,missense_variant,p.Asp257Asn,ENST00000561831,NM_001243236.1;TCF4,non_coding_transcript_exon_variant,,ENST00000563760,;TCF4,non_coding_transcript_exon_variant,,ENST00000562680,;	uc002lfz.2	c.1249G>A	1861/8317	2	2			c.1249G>A						18	SNP	c.(1249-1251)GAC>AAC	24	24			ovary(1)|lung(1)	2	Broad	transcription factor 4 isoform b			52921829		0.502	ENSG00000196628	15452	g.chr18:52921829C>T	positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding							134.52174	KEEP	18	25	-1	10	10	18	25	-1	136.5528	10	10	0.694915	1	0	0	0	0	1	0	0	0	--	--		0	T			TCF4_uc002lfw.3_Missense_Mutation_p.D257N|TCF4_uc010xdu.1_Missense_Mutation_p.D287N|TCF4_uc010xdv.1_Missense_Mutation_p.D287N|TCF4_uc002lfx.2_Missense_Mutation_p.D346N|TCF4_uc010xdw.1_Missense_Mutation_p.D287N|TCF4_uc002lfy.2_Missense_Mutation_p.D375N|TCF4_uc010xdx.1_Missense_Mutation_p.D393N|TCF4_uc010dph.1_Missense_Mutation_p.D417N|TCF4_uc010xdy.1_Missense_Mutation_p.D393N|TCF4_uc002lga.2_Missense_Mutation_p.D519N|TCF4_uc002lgb.1_Missense_Mutation_p.D257N|TCF4_uc010dpi.2_Missense_Mutation_p.D423N|TCF4_uc002lfv.2_Missense_Mutation_p.D200N	82	GBM-06-2558-TP	p.D417N	C	CCATGCATGTCCCCATGACCA	NM_003199	NP_003190	52921829	P15884	ITF2_HUMAN	0		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	15	1861	-	T	T			Missense_Mutation	417						
TCF7L2	6934	broad.mit.edu	GRCh37	10	114925317	114925317	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0213-01	TCGA-06-0213-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000543371.1:c.1403del	p.Lys468SerfsTer23	p.K468Sfs*23	ENST00000543371	NM_001198531.1	465	agA/ag	0			1			-	R/X	uc001lae.3	protein_coding					1446/1860								p.R465C(1)	large_intestine(3)|ovary(1)	4	c.(1393-1395)AGAfs			hmmpanther:PTHR10373:SF32,hmmpanther:PTHR10373	transcription factor 7-like 2 isoform 1				ENSP00000348274		15/15	0.000593	0.000206	0.000174	0.00035		0.000714		6.52E-05	rs745872748,COSM1345859,COSM1345860,COSM1345858	15/15	common_variant		ENST00000355995	Transcript	1		anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	ENSG00000148737	g.chr10:114925317delA	11641	8		HIGH								--	--	1																																		TCF7L2_uc001lac.3_Frame_Shift_Del_p.R459fs|TCF7L2_uc010qrk.1_Frame_Shift_Del_p.E435fs|TCF7L2_uc010qrl.1_Frame_Shift_Del_p.R442fs|TCF7L2_uc010qrm.1_Frame_Shift_Del_p.E441fs|TCF7L2_uc010qrn.1_Frame_Shift_Del_p.E384fs|TCF7L2_uc001lad.3_Frame_Shift_Del_p.E431fs|TCF7L2_uc001lag.3_Frame_Shift_Del_p.E465fs|TCF7L2_uc001laf.3_Frame_Shift_Del_p.R442fs|TCF7L2_uc010qro.1_Frame_Shift_Del_p.E418fs|TCF7L2_uc001lah.2_3'UTR|TCF7L2_uc010qrp.1_3'UTR|TCF7L2_uc010qrq.1_3'UTR|TCF7L2_uc010qrr.1_Frame_Shift_Del_p.R397fs|TCF7L2_uc010qrs.1_Frame_Shift_Del_p.R353fs|TCF7L2_uc010qrt.1_Frame_Shift_Del_p.R353fs|TCF7L2_uc010qru.1_Frame_Shift_Del_p.E357fs|TCF7L2_uc010qrv.1_3'UTR|TCF7L2_uc010qrw.1_3'UTR|TCF7L2_uc010qrx.1_3'UTR	0,1,1,1				p.R465fs	NM_001146274	NP_001139746			0,1,1,1	TF7L2_HUMAN	TCF7L2	HGNC	Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	E2GH25_HUMAN		14	1902	+		Breast(234;0.058)|Colorectal(252;0.0615)	UPI0000136848	482			Promoter-specific activation domain.		deletion	TCF7L2,frameshift_variant,p.Lys485SerfsTer23,ENST00000355995,;TCF7L2,frameshift_variant,p.Lys485SerfsTer23,ENST00000545257,;TCF7L2,frameshift_variant,p.Lys468SerfsTer23,ENST00000543371,NM_001198531.1,NM_001198526.1,NM_001146274.1;TCF7L2,frameshift_variant,p.Lys468SerfsTer23,ENST00000536810,NM_001146285.1;TCF7L2,frameshift_variant,p.Ser468ValfsTer8,ENST00000355717,NM_001146286.1,NM_001198530.1,NM_001146283.1;TCF7L2,frameshift_variant,p.Ser461ValfsTer8,ENST00000538897,NM_001146284.1,NM_001198529.1;TCF7L2,frameshift_variant,p.Lys462SerfsTer23,ENST00000369397,NM_030756.4,NM_001198528.1,NM_001198527.1,NM_001198525.1;TCF7L2,frameshift_variant,p.Lys201SerfsTer23,ENST00000542695,;TCF7L2,frameshift_variant,p.Ser155ValfsTer8,ENST00000369389,;TCF7L2,frameshift_variant,p.Lys185SerfsTer?,ENST00000277945,;TCF7L2,3_prime_UTR_variant,,ENST00000352065,;TCF7L2,3_prime_UTR_variant,,ENST00000369386,;TCF7L2,downstream_gene_variant,,ENST00000534894,;TCF7L2,non_coding_transcript_exon_variant,,ENST00000466338,;TCF7L2,non_coding_transcript_exon_variant,,ENST00000476887,;TCF7L2,non_coding_transcript_exon_variant,,ENST00000494353,;TCF7L2,non_coding_transcript_exon_variant,,ENST00000471569,;TCF7L2,intron_variant,,ENST00000480888,;TCF7L2,3_prime_UTR_variant,,ENST00000470254,;	uc001lae.3	c.1395delA	1953/4073	5	5			c.1395delA						10	DEL	c.(1393-1395)AGAfs	5	5		p.R465C(1)	large_intestine(3)|ovary(1)	4	Broad	transcription factor 7-like 2 isoform 1			114925317		0.522	ENSG00000148737	15455	g.chr10:114925317delA	anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding																				0.02	1	1	0	1	0	0	0	0	0	--	--		0	-			TCF7L2_uc001lac.3_Frame_Shift_Del_p.R459fs|TCF7L2_uc010qrk.1_Frame_Shift_Del_p.E435fs|TCF7L2_uc010qrl.1_Frame_Shift_Del_p.R442fs|TCF7L2_uc010qrm.1_Frame_Shift_Del_p.E441fs|TCF7L2_uc010qrn.1_Frame_Shift_Del_p.E384fs|TCF7L2_uc001lad.3_Frame_Shift_Del_p.E431fs|TCF7L2_uc001lag.3_Frame_Shift_Del_p.E465fs|TCF7L2_uc001laf.3_Frame_Shift_Del_p.R442fs|TCF7L2_uc010qro.1_Frame_Shift_Del_p.E418fs|TCF7L2_uc001lah.2_3'UTR|TCF7L2_uc010qrp.1_3'UTR|TCF7L2_uc010qrq.1_3'UTR|TCF7L2_uc010qrr.1_Frame_Shift_Del_p.R397fs|TCF7L2_uc010qrs.1_Frame_Shift_Del_p.R353fs|TCF7L2_uc010qrt.1_Frame_Shift_Del_p.R353fs|TCF7L2_uc010qru.1_Frame_Shift_Del_p.E357fs|TCF7L2_uc010qrv.1_3'UTR|TCF7L2_uc010qrw.1_3'UTR|TCF7L2_uc010qrx.1_3'UTR	49	GBM-06-0213-TP	p.R465fs	A	TTTCTAGGAGAAAAAAAAAGT	NM_001146274	NP_001139746	114925317	Q9NQB0	TF7L2_HUMAN	0		Epithelial(162;0.00554)|all cancers(201;0.02)	14	1902	+	-	-		Breast(234;0.058)|Colorectal(252;0.0615)	Frame_Shift_Del	482			Promoter-specific activation domain.			
TCF7L2	0	broad.mit.edu	GRCh37	10	114711317	114711317	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-4213-01	TCGA-32-4213-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355995.4:c.332T>C	p.Leu111Pro	p.L111P	ENST00000355995		111	cTg/cCg	0			1			C	L/P	uc001lae.3	protein_coding					332/1860									large_intestine(3)|ovary(1)	4	c.(331-333)CTG>CCG			hmmpanther:PTHR10373:SF32,hmmpanther:PTHR10373,Pfam_domain:PF08347	transcription factor 7-like 2 isoform 1				ENSP00000348274		15-Mar									COSM3396917,COSM3396918,COSM3396916	15-Mar	.		ENST00000355995	Transcript	1		anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	ENSG00000148737	g.chr10:114711317T>C	11641			MODERATE		2.075	medium	getma.org/?cm=msa&ty=f&p=TF7L2_HUMAN&rb=1&re=259&var=L111P	NA	getma.org/?cm=var&var=hg19,10,114711317,T,C&fts=all	L111P	--	--	1																																		TCF7L2_uc001lac.3_Missense_Mutation_p.L111P|TCF7L2_uc010qrk.1_Missense_Mutation_p.L111P|TCF7L2_uc010qrl.1_Missense_Mutation_p.L111P|TCF7L2_uc010qrm.1_Missense_Mutation_p.L111P|TCF7L2_uc010qrn.1_Missense_Mutation_p.L111P|TCF7L2_uc001lad.3_Missense_Mutation_p.L111P|TCF7L2_uc001lag.3_Missense_Mutation_p.L111P|TCF7L2_uc001laf.3_Missense_Mutation_p.L111P|TCF7L2_uc010qro.1_Missense_Mutation_p.L111P|TCF7L2_uc001lah.2_Missense_Mutation_p.L111P|TCF7L2_uc010qrp.1_Missense_Mutation_p.L111P|TCF7L2_uc010qrq.1_Missense_Mutation_p.L111P|TCF7L2_uc010qrr.1_Missense_Mutation_p.L5P|TCF7L2_uc010qrs.1_Missense_Mutation_p.L5P|TCF7L2_uc010qrt.1_Missense_Mutation_p.L5P	1,1,1			possibly_damaging(0.529)	p.L111P	NM_001146274	NP_001139746		deleterious(0)	1,1,1	TF7L2_HUMAN	TCF7L2	HGNC	Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	E2GH25_HUMAN		3	839	+		Breast(234;0.058)|Colorectal(252;0.0615)	UPI0000136848	111					SNV	TCF7L2,missense_variant,p.Leu111Pro,ENST00000545257,;TCF7L2,missense_variant,p.Leu111Pro,ENST00000355995,;TCF7L2,missense_variant,p.Leu111Pro,ENST00000543371,NM_001198531.1,NM_001198526.1,NM_001146274.1;TCF7L2,missense_variant,p.Leu111Pro,ENST00000536810,NM_001146285.1;TCF7L2,missense_variant,p.Leu111Pro,ENST00000355717,NM_001146286.1,NM_001198530.1,NM_001146283.1;TCF7L2,missense_variant,p.Leu111Pro,ENST00000538897,NM_001146284.1,NM_001198529.1;TCF7L2,missense_variant,p.Leu111Pro,ENST00000369397,NM_030756.4,NM_001198528.1,NM_001198527.1,NM_001198525.1;TCF7L2,missense_variant,p.Leu111Pro,ENST00000534894,;TCF7L2,missense_variant,p.Leu111Pro,ENST00000352065,;TCF7L2,missense_variant,p.Leu111Pro,ENST00000349937,;TCF7L2,missense_variant,p.Leu111Pro,ENST00000369395,;TCF7L2,missense_variant,p.Leu58Pro,ENST00000346198,;TCF7L2,5_prime_UTR_variant,,ENST00000542695,;RP11-57H14.2,intron_variant,,ENST00000369391,;	uc001lae.3	c.332T>C	839/4073	3	3			c.332T>C						10	SNP	c.(331-333)CTG>CCG	1	1			large_intestine(3)|ovary(1)	4	Broad	transcription factor 7-like 2 isoform 1			114711317		0.532	ENSG00000148737	15455	g.chr10:114711317T>C	anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding							5.044532	KEEP	0	3	-1	8	14	0	3	-1	6.306773	8	14	0.166667	1	0	0	0	0	1	0	0	0	--	--		0	C			TCF7L2_uc001lac.3_Missense_Mutation_p.L111P|TCF7L2_uc010qrk.1_Missense_Mutation_p.L111P|TCF7L2_uc010qrl.1_Missense_Mutation_p.L111P|TCF7L2_uc010qrm.1_Missense_Mutation_p.L111P|TCF7L2_uc010qrn.1_Missense_Mutation_p.L111P|TCF7L2_uc001lad.3_Missense_Mutation_p.L111P|TCF7L2_uc001lag.3_Missense_Mutation_p.L111P|TCF7L2_uc001laf.3_Missense_Mutation_p.L111P|TCF7L2_uc010qro.1_Missense_Mutation_p.L111P|TCF7L2_uc001lah.2_Missense_Mutation_p.L111P|TCF7L2_uc010qrp.1_Missense_Mutation_p.L111P|TCF7L2_uc010qrq.1_Missense_Mutation_p.L111P|TCF7L2_uc010qrr.1_Missense_Mutation_p.L5P|TCF7L2_uc010qrs.1_Missense_Mutation_p.L5P|TCF7L2_uc010qrt.1_Missense_Mutation_p.L5P	247	GBM-32-4213-TP	p.L111P	T	ATCCCCGACCTGACGAGCCCC	NM_001146274	NP_001139746	114711317	Q9NQB0	TF7L2_HUMAN	0		Epithelial(162;0.00554)|all cancers(201;0.02)	3	839	+	C	C		Breast(234;0.058)|Colorectal(252;0.0615)	Missense_Mutation	111						
TCHH	7062	broad.mit.edu	GRCh37	1	152081632	152081632	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs2496251		TCGA-06-0188-01	TCGA-06-0188-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368804.1:c.4061G>A	p.Arg1354His	p.R1354H	ENST00000368804	NM_007113.3	1354	cGc/cAc	0	G:0.0008	G:0	1	G:0.0014		T	R/H	uc001ezp.2	protein_coding	YES	CCDS41396.1			4061/5832									ovary(3)|kidney(1)|central_nervous_system(1)	5	c.(4060-4062)CGC>CAC			Low_complexity_(Seg):seg	trichohyalin		G:0	G:0.0048	ENSP00000357794	G:0.001	2-Feb	1.66E-05		0.000173						rs2496251,COSM2150588	2-Feb	.		ENST00000368804	Transcript		G:0.0006	keratinization	cytoskeleton	calcium ion binding	ENSG00000159450	g.chr1:152081632C>T	11791			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=TRHY_HUMAN&rb=1301&re=1899&var=R1354H	NA	getma.org/?cm=var&var=hg19,1,152081632,C,T&fts=all	R1354H	--	--	1																																		TCHH_uc009wne.1_Missense_Mutation_p.R1354H	0,1	1		unknown(0)	p.R1354H	NM_007113	NP_009044	G:0.001		0,1	TRHY_HUMAN	TCHH	HGNC	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q5D861_HUMAN,A2RRS3_HUMAN		2	4061	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000458A5E	1354	R -> L (in Ref. 1; AAA65582).		23 X 26 AA approximate tandem repeats.		SNV	TCHH,missense_variant,p.Arg1354His,ENST00000368804,NM_007113.3;	uc001ezp.2	c.4061G>A	4061/6900	1	1			c.4061G>A						1	SNP	c.(4060-4062)CGC>CAC	8	8			ovary(3)|kidney(1)|central_nervous_system(1)	5	Broad	trichohyalin			152081632		0.567	ENSG00000159450	15457	g.chr1:152081632C>T	keratinization	cytoskeleton	calcium ion binding							376.478771	KEEP	114	102	-1	128	154	114	102	-1	377.425231	128	154	0.439597	1	0	0	0	0	1	0	0	0	--	--		0	T			TCHH_uc009wne.1_Missense_Mutation_p.R1354H	41	GBM-06-0188-TP	p.R1354H	C	CTCTTGGCGGCGCAGCGGCTG	NM_007113	NP_009044	152081632	Q07283	TRHY_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4061	-	T	T	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	1354	R -> L (in Ref. 1; AAA65582).		23 X 26 AA approximate tandem repeats.			
TCHH	7062	broad.mit.edu	GRCh37	1	152084995	152084995	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0216-01	TCGA-06-0216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368804.1:c.698G>A	p.Arg233Gln	p.R233Q	ENST00000368804	NM_007113.3	233	cGg/cAg	0			1			T	R/Q	uc001ezp.2	protein_coding	YES	CCDS41396.1			698/5832									ovary(3)|kidney(1)|central_nervous_system(1)	5	c.(697-699)CGG>CAG			Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg	trichohyalin				ENSP00000357794		2-Feb									COSM2150917	2-Feb	.		ENST00000368804	Transcript			keratinization	cytoskeleton	calcium ion binding	ENSG00000159450	g.chr1:152084995C>T	11791			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TRHY_HUMAN&rb=140&re=339&var=R233Q	NA	getma.org/?cm=var&var=hg19,1,152084995,C,T&fts=all	R233Q	--	--	1																																		TCHH_uc009wne.1_Missense_Mutation_p.R233Q	1	1		unknown(0)	p.R233Q	NM_007113	NP_009044			1	TRHY_HUMAN	TCHH	HGNC	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q5D861_HUMAN,A2RRS3_HUMAN		2	698	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000458A5E	233					SNV	TCHH,missense_variant,p.Arg233Gln,ENST00000368804,NM_007113.3;	uc001ezp.2	c.698G>A	698/6900	1	1			c.698G>A						1	SNP	c.(697-699)CGG>CAG	8	8			ovary(3)|kidney(1)|central_nervous_system(1)	5	Broad	trichohyalin			152084995		0.577	ENSG00000159450	15457	g.chr1:152084995C>T	keratinization	cytoskeleton	calcium ion binding							374.246611	KEEP	85	40	-1	102	36	85	40	-1	374.303163	102	36	0.483607	1	0	0	0	0	1	0	0	0	--	--		0	T			TCHH_uc009wne.1_Missense_Mutation_p.R233Q	51	GBM-06-0216-TP	p.R233Q	C	TCTGTCTTGCCGCTCTCGCCT	NM_007113	NP_009044	152084995	Q07283	TRHY_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		2	698	-	T	T	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	233						
TCHH	7062	broad.mit.edu	GRCh37	1	152081057	152081057	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368804.1:c.4636G>A	p.Gly1546Arg	p.G1546R	ENST00000368804	NM_007113.3	1546	Ggg/Agg	0			1			T	G/R	uc001ezp.2	protein_coding	YES	CCDS41396.1			4636/5832									ovary(3)|kidney(1)|central_nervous_system(1)	5	c.(4636-4638)GGG>AGG			Low_complexity_(Seg):seg	trichohyalin				ENSP00000357794		2-Feb									COSM3399704	2-Feb	.		ENST00000368804	Transcript			keratinization	cytoskeleton	calcium ion binding	ENSG00000159450	g.chr1:152081057C>T	11791			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TRHY_HUMAN&rb=1301&re=1899&var=G1546R	NA	getma.org/?cm=var&var=hg19,1,152081057,C,T&fts=all	G1546R	--	--	1																																		TCHH_uc009wne.1_Missense_Mutation_p.G1546R	1	1		unknown(0)	p.G1546R	NM_007113	NP_009044			1	TRHY_HUMAN	TCHH	HGNC	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q5D861_HUMAN,A2RRS3_HUMAN		2	4636	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000458A5E	1546			23 X 26 AA approximate tandem repeats.		SNV	TCHH,missense_variant,p.Gly1546Arg,ENST00000368804,NM_007113.3;	uc001ezp.2	c.4636G>A	4636/6900	2	2			c.4636G>A						1	SNP	c.(4636-4638)GGG>AGG	48	48			ovary(3)|kidney(1)|central_nervous_system(1)	5	Broad	trichohyalin			152081057		0.617	ENSG00000159450	15457	g.chr1:152081057C>T	keratinization	cytoskeleton	calcium ion binding							-10.857215	KEEP	4	4	-1	89	47	4	4	-1	11.22197	89	47	0.063063	1	0	0	0	0	1	0	0	0	--	--		0	T			TCHH_uc009wne.1_Missense_Mutation_p.G1546R	62	GBM-06-0649-TP	p.G1546R	C	CGCTGTTGCCCGCGCTCCTGG	NM_007113	NP_009044	152081057	Q07283	TRHY_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4636	-	T	T	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	1546			23 X 26 AA approximate tandem repeats.			
TCHH	7062	broad.mit.edu	GRCh37	1	152082760	152082760	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01	TCGA-06-2567-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368804.1:c.2933C>T	p.Pro978Leu	p.P978L	ENST00000368804	NM_007113.3	978	cCg/cTg	0			1			A	P/L	uc001ezp.2	protein_coding	YES	CCDS41396.1			2933/5832									ovary(3)|kidney(1)|central_nervous_system(1)	5	c.(2932-2934)CCG>CTG			Low_complexity_(Seg):seg	trichohyalin				ENSP00000357794		2-Feb									COSM3399706	2-Feb	.		ENST00000368804	Transcript			keratinization	cytoskeleton	calcium ion binding	ENSG00000159450	g.chr1:152082760G>A	11791			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TRHY_HUMAN&rb=940&re=1139&var=P978L	NA	getma.org/?cm=var&var=hg19,1,152082760,G,A&fts=all	P978L	--	--	1																																		TCHH_uc009wne.1_Missense_Mutation_p.P978L	1	1		unknown(0)	p.P978L	NM_007113	NP_009044			1	TRHY_HUMAN	TCHH	HGNC	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q5D861_HUMAN,A2RRS3_HUMAN		2	2933	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000458A5E	978			10 X 30 AA tandem repeats.|4-3.		SNV	TCHH,missense_variant,p.Pro978Leu,ENST00000368804,NM_007113.3;	uc001ezp.2	c.2933C>T	2933/6900	2	2			c.2933C>T						1	SNP	c.(2932-2934)CCG>CTG	25	25			ovary(3)|kidney(1)|central_nervous_system(1)	5	Broad	trichohyalin			152082760		0.134	ENSG00000159450	15457	g.chr1:152082760G>A	keratinization	cytoskeleton	calcium ion binding							111.430468	KEEP	25	33	-1	141	131	25	33	-1	142.91958	141	131	0.174603	1	0	0	0	0	1	0	0	0	--	--		0	A			TCHH_uc009wne.1_Missense_Mutation_p.P978L	89	GBM-06-2567-TP	p.P978L	G	tctcttctccggttcctctcc	NM_007113	NP_009044	152082760	Q07283	TRHY_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2933	-	A	A	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	978			10 X 30 AA tandem repeats.|4-3.			
TCHH	7062	broad.mit.edu	GRCh37	1	152081245	152081245	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368804.1:c.4448G>A	p.Arg1483His	p.R1483H	ENST00000368804	NM_007113.3	1483	cGt/cAt	0			1			T	R/H	uc001ezp.2	protein_coding	YES	CCDS41396.1			4448/5832									ovary(3)|kidney(1)|central_nervous_system(1)	5	c.(4447-4449)CGT>CAT			Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg	trichohyalin				ENSP00000357794		2-Feb									COSM2153349	2-Feb	.		ENST00000368804	Transcript			keratinization	cytoskeleton	calcium ion binding	ENSG00000159450	g.chr1:152081245C>T	11791			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=TRHY_HUMAN&rb=1301&re=1899&var=R1483H	NA	getma.org/?cm=var&var=hg19,1,152081245,C,T&fts=all	R1483H	--	--	1																																		TCHH_uc009wne.1_Missense_Mutation_p.R1483H	1	1		unknown(0)	p.R1483H	NM_007113	NP_009044			1	TRHY_HUMAN	TCHH	HGNC	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q5D861_HUMAN,A2RRS3_HUMAN		2	4448	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000458A5E	1483			23 X 26 AA approximate tandem repeats.		SNV	TCHH,missense_variant,p.Arg1483His,ENST00000368804,NM_007113.3;	uc001ezp.2	c.4448G>A	4448/6900	1	1			c.4448G>A						1	SNP	c.(4447-4449)CGT>CAT	8	8			ovary(3)|kidney(1)|central_nervous_system(1)	5	Broad	trichohyalin			152081245		0.557	ENSG00000159450	15457	g.chr1:152081245C>T	keratinization	cytoskeleton	calcium ion binding							150.322532	KEEP	34	38	-1	69	91	34	38	-1	155.095208	69	91	0.325843	1	0	0	0	0	1	0	0	0	--	--		0	T			TCHH_uc009wne.1_Missense_Mutation_p.R1483H	100	GBM-06-5418-TP	p.R1483H	C	TTTTCTGTCACGCTCTTGGCG	NM_007113	NP_009044	152081245	Q07283	TRHY_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4448	-	T	T	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	1483			23 X 26 AA approximate tandem repeats.			
TCHH	0	broad.mit.edu	GRCh37	1	152084715	152084735	+	inframe_deletion	In_Frame_Del	DEL	CTCCTGCTGCTCGCGCCTCTC	CTCCTGCTGCTCGCGCCTCTC	-			TCGA-14-1395-01	TCGA-14-1395-01	CTCCTGCTGCTCGCGCCTCTC	CTCCTGCTGCTCGCGCCTCTC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368804.1:c.958_978delGAGAGGCGCGAGCAGCAGGAG	p.Glu320_Glu326del	p.E320_E326del	ENST00000368804	NM_007113.3	320	GAGAGGCGCGAGCAGCAGGAG/-	0			1			-	ERREQQE/-	uc001ezp.2	protein_coding	YES	CCDS41396.1			958-978/5832									ovary(3)|kidney(1)|central_nervous_system(1)	5	c.(958-978)GAGAGGCGCGAGCAGCAGGAGdel			Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg	trichohyalin				ENSP00000357794		2-Feb	0.000207	0.000114	0.00105	0.000239		0.00011	0.00117	0.000122	rs770348410,TMP_ESP_1_152084715_152084735	2-Feb	common_variant		ENST00000368804	Transcript			keratinization	cytoskeleton	calcium ion binding	ENSG00000159450	g.chr1:152084715_152084735delCTCCTGCTGCTCGCGCCTCTC	11791			MODERATE								--	--	1																																		TCHH_uc009wne.1_In_Frame_Del_p.ERREQQE320del		1			p.ERREQQE320del	NM_007113	NP_009044				TRHY_HUMAN	TCHH	HGNC	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q5D861_HUMAN,A2RRS3_HUMAN		2	958_978	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000458A5E	320_326			5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.|1-1; approximate.		deletion	TCHH,inframe_deletion,p.Glu320_Glu326del,ENST00000368804,NM_007113.3;	uc001ezp.2	c.958_978delGAGAGGCGCGAGCAGCAGGAG	958-978/6900	5	5			c.958_978delGAGAGGCGCGAGCAGCAGGAG						1	DEL	c.(958-978)GAGAGGCGCGAGCAGCAGGAGdel	25	25			ovary(3)|kidney(1)|central_nervous_system(1)	5	Broad	trichohyalin			152084735		0.072	ENSG00000159450	15457	g.chr1:152084715_152084735delCTCCTGCTGCTCGCGCCTCTC	keratinization	cytoskeleton	calcium ion binding																				0.18	1	1	0	1	0	0	0	0	0	--	--		0	-			TCHH_uc009wne.1_In_Frame_Del_p.ERREQQE320del	144	GBM-14-1395-TP	p.ERREQQE320del	CTCCTGCTGCTCGCGCCTCTC	gctcgcgcctctcctgctgctcgcgcctctcctcctgctgc	NM_007113	NP_009044	152084715	Q07283	TRHY_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		2	958_978	-	-	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		In_Frame_Del	320_326			5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.|1-1; approximate.			
TCHH	0	broad.mit.edu	GRCh37	1	152080828	152080828	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1829-01	TCGA-14-1829-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368804.1:c.4865G>A	p.Arg1622His	p.R1622H	ENST00000368804	NM_007113.3	1622	cGc/cAc	0			1			T	R/H	uc001ezp.2	protein_coding	YES	CCDS41396.1			4865/5832									ovary(3)|kidney(1)|central_nervous_system(1)	5	c.(4864-4866)CGC>CAC			Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg	trichohyalin				ENSP00000357794		2-Feb									COSM1334064	2-Feb	.		ENST00000368804	Transcript			keratinization	cytoskeleton	calcium ion binding	ENSG00000159450	g.chr1:152080828C>T	11791			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=TRHY_HUMAN&rb=1301&re=1899&var=R1622H	NA	getma.org/?cm=var&var=hg19,1,152080828,C,T&fts=all	R1622H	--	--	1																																		TCHH_uc009wne.1_Missense_Mutation_p.R1622H	1	1		unknown(0)	p.R1622H	NM_007113	NP_009044			1	TRHY_HUMAN	TCHH	HGNC	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q5D861_HUMAN,A2RRS3_HUMAN		2	4865	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000458A5E	1622			23 X 26 AA approximate tandem repeats.		SNV	TCHH,missense_variant,p.Arg1622His,ENST00000368804,NM_007113.3;	uc001ezp.2	c.4865G>A	4865/6900	1	1			c.4865G>A						1	SNP	c.(4864-4866)CGC>CAC	16	16			ovary(3)|kidney(1)|central_nervous_system(1)	5	Broad	trichohyalin			152080828		0.602	ENSG00000159450	15457	g.chr1:152080828C>T	keratinization	cytoskeleton	calcium ion binding							159.423785	KEEP	35	27	-1	65	56	35	27	-1	163.381214	65	56	0.337278	1	0	0	0	0	1	0	0	0	--	--		0	T			TCHH_uc009wne.1_Missense_Mutation_p.R1622H	149	GBM-14-1829-TP	p.R1622H	C	TTCGTCTTCGCGGAATTTTCT	NM_007113	NP_009044	152080828	Q07283	TRHY_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4865	-	T	T	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	1622			23 X 26 AA approximate tandem repeats.			
TCHH	0	broad.mit.edu	GRCh37	1	152083402	152083402	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-5960-01	TCGA-19-5960-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368804.1:c.2291G>C	p.Arg764Pro	p.R764P	ENST00000368804	NM_007113.3	764	cGc/cCc	0			1			G	R/P	uc001ezp.2	protein_coding	YES	CCDS41396.1			2291/5832									ovary(3)|kidney(1)|central_nervous_system(1)	5	c.(2290-2292)CGC>CCC			Low_complexity_(Seg):seg	trichohyalin				ENSP00000357794		2-Feb									COSM3399708	2-Feb	.		ENST00000368804	Transcript			keratinization	cytoskeleton	calcium ion binding	ENSG00000159450	g.chr1:152083402C>G	11791			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=TRHY_HUMAN&rb=740&re=939&var=R764P	NA	getma.org/?cm=var&var=hg19,1,152083402,C,G&fts=all	R764P	--	--	1																																		TCHH_uc009wne.1_Missense_Mutation_p.R764P	1	1		unknown(0)	p.R764P	NM_007113	NP_009044			1	TRHY_HUMAN	TCHH	HGNC	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q5D861_HUMAN,A2RRS3_HUMAN		2	2291	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000458A5E	764					SNV	TCHH,missense_variant,p.Arg764Pro,ENST00000368804,NM_007113.3;	uc001ezp.2	c.2291G>C	2291/6900	3	3			c.2291G>C						1	SNP	c.(2290-2292)CGC>CCC	15	15			ovary(3)|kidney(1)|central_nervous_system(1)	5	Broad	trichohyalin			152083402		0.682	ENSG00000159450	15457	g.chr1:152083402C>G	keratinization	cytoskeleton	calcium ion binding							156.35668	KEEP	20	37	-1	38	33	20	37	-1	156.812972	38	33	0.431193	1	0	0	0	0	1	0	0	0	--	--		0	G			TCHH_uc009wne.1_Missense_Mutation_p.R764P	178	GBM-19-5960-TP	p.R764P	C	GAAGTCCCGGCGCTGCTCCTC	NM_007113	NP_009044	152083402	Q07283	TRHY_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2291	-	G	G	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	764						
TCHH	0	broad.mit.edu	GRCh37	1	152081494	152081494	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-1439-01	TCGA-26-1439-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368804.1:c.4199G>A	p.Arg1400His	p.R1400H	ENST00000368804	NM_007113.3	1400	cGc/cAc	0			1			T	R/H	uc001ezp.2	protein_coding	YES	CCDS41396.1			4199/5832								p.R1400P(1)	ovary(3)|kidney(1)|central_nervous_system(1)	5	c.(4198-4200)CGC>CAC			Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg	trichohyalin				ENSP00000357794		2-Feb									COSM2156874	2-Feb	.		ENST00000368804	Transcript			keratinization	cytoskeleton	calcium ion binding	ENSG00000159450	g.chr1:152081494C>T	11791			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=TRHY_HUMAN&rb=1301&re=1899&var=R1400H	NA	getma.org/?cm=var&var=hg19,1,152081494,C,T&fts=all	R1400H	--	--	1																																		TCHH_uc009wne.1_Missense_Mutation_p.R1400H	1	1		unknown(0)	p.R1400H	NM_007113	NP_009044			1	TRHY_HUMAN	TCHH	HGNC	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q5D861_HUMAN,A2RRS3_HUMAN		2	4199	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000458A5E	1400		R -> P (found in a renal cell carcinoma sample; somatic mutation).	23 X 26 AA approximate tandem repeats.		SNV	TCHH,missense_variant,p.Arg1400His,ENST00000368804,NM_007113.3;	uc001ezp.2	c.4199G>A	4199/6900	2	2			c.4199G>A						1	SNP	c.(4198-4200)CGC>CAC	32	32		p.R1400P(1)	ovary(3)|kidney(1)|central_nervous_system(1)	5	Broad	trichohyalin			152081494		0.587	ENSG00000159450	15457	g.chr1:152081494C>T	keratinization	cytoskeleton	calcium ion binding							138.202859	KEEP	23	30	-1	47	59	23	30	-1	141.232529	47	59	0.346939	1	0	0	0	0	1	0	0	0	--	--		0	T			TCHH_uc009wne.1_Missense_Mutation_p.R1400H	179	GBM-26-1439-TP	p.R1400H	C	CTCCTGGCAGCGCAGCTGCTG	NM_007113	NP_009044	152081494	Q07283	TRHY_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4199	-	T	T	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	1400		R -> P (found in a renal cell carcinoma sample; somatic mutation).	23 X 26 AA approximate tandem repeats.			
TCHH	0	broad.mit.edu	GRCh37	1	152083688	152083688	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-27-1835-01	TCGA-27-1835-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368804.1:c.2005G>C	p.Glu669Gln	p.E669Q	ENST00000368804	NM_007113.3	669	Gag/Cag	0			1			G	E/Q	uc001ezp.2	protein_coding	YES	CCDS41396.1			2005/5832									ovary(3)|kidney(1)|central_nervous_system(1)	5	c.(2005-2007)GAG>CAG			Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg	trichohyalin				ENSP00000357794		2-Feb	1.65E-05				0.000156			6.06E-05	rs755360885,COSM3747790	2-Feb	.		ENST00000368804	Transcript			keratinization	cytoskeleton	calcium ion binding	ENSG00000159450	g.chr1:152083688C>G	11791			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=TRHY_HUMAN&rb=540&re=739&var=E669Q	NA	getma.org/?cm=var&var=hg19,1,152083688,C,G&fts=all	E669Q	--	--	1																																		TCHH_uc009wne.1_Missense_Mutation_p.E669Q	0,1	1		unknown(0)	p.E669Q	NM_007113	NP_009044			0,1	TRHY_HUMAN	TCHH	HGNC	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q5D861_HUMAN,A2RRS3_HUMAN		2	2005	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000458A5E	669			9 X 28 AA approximate tandem repeats.		SNV	TCHH,missense_variant,p.Glu669Gln,ENST00000368804,NM_007113.3;	uc001ezp.2	c.2005G>C	2005/6900	3	3			c.2005G>C						1	SNP	c.(2005-2007)GAG>CAG	1	1			ovary(3)|kidney(1)|central_nervous_system(1)	5	Broad	trichohyalin			152083688		0.662	ENSG00000159450	15457	g.chr1:152083688C>G	keratinization	cytoskeleton	calcium ion binding							86.30512	KEEP	45	24	-1	34	29	45	24	-1	87.0202	34	29	0.391304	1	0	0	0	0	1	0	0	0	--	--		0	G			TCHH_uc009wne.1_Missense_Mutation_p.E669Q	194	GBM-27-1835-TP	p.E669Q	C	AGCCGCTGCTCGAGCCTCTCT	NM_007113	NP_009044	152083688	Q07283	TRHY_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2005	-	G	G	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	669			9 X 28 AA approximate tandem repeats.			
TCHH	0	broad.mit.edu	GRCh37	1	152081047	152081047	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2519-01	TCGA-27-2519-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368804.1:c.4646G>A	p.Arg1549Gln	p.R1549Q	ENST00000368804	NM_007113.3	1549	cGg/cAg	0			1			T	R/Q	uc001ezp.2	protein_coding	YES	CCDS41396.1			4646/5832									ovary(3)|kidney(1)|central_nervous_system(1)	5	c.(4645-4647)CGG>CAG			Low_complexity_(Seg):seg	trichohyalin				ENSP00000357794		2-Feb									COSM3399703	2-Feb	.		ENST00000368804	Transcript			keratinization	cytoskeleton	calcium ion binding	ENSG00000159450	g.chr1:152081047C>T	11791			MODERATE		1.525	low	getma.org/?cm=msa&ty=f&p=TRHY_HUMAN&rb=1301&re=1899&var=R1549Q	NA	getma.org/?cm=var&var=hg19,1,152081047,C,T&fts=all	R1549Q	--	--	1																																		TCHH_uc009wne.1_Missense_Mutation_p.R1549Q	1	1		unknown(0)	p.R1549Q	NM_007113	NP_009044			1	TRHY_HUMAN	TCHH	HGNC	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q5D861_HUMAN,A2RRS3_HUMAN		2	4646	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000458A5E	1549			23 X 26 AA approximate tandem repeats.		SNV	TCHH,missense_variant,p.Arg1549Gln,ENST00000368804,NM_007113.3;	uc001ezp.2	c.4646G>A	4646/6900	1	1			c.4646G>A						1	SNP	c.(4645-4647)CGG>CAG	8	8			ovary(3)|kidney(1)|central_nervous_system(1)	5	Broad	trichohyalin			152081047		0.607	ENSG00000159450	15457	g.chr1:152081047C>T	keratinization	cytoskeleton	calcium ion binding							104.397191	KEEP	27	21	-1	60	68	27	21	-1	110.344863	60	68	0.279412	1	0	0	0	0	1	0	0	0	--	--		0	T			TCHH_uc009wne.1_Missense_Mutation_p.R1549Q	199	GBM-27-2519-TP	p.R1549Q	C	GTCCTGACGCCGCTGTTGCCC	NM_007113	NP_009044	152081047	Q07283	TRHY_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4646	-	T	T	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	1549			23 X 26 AA approximate tandem repeats.			
TCHH	0	broad.mit.edu	GRCh37	1	152082812	152082812	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5211-01	TCGA-28-5211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368804.1:c.2881C>T	p.Arg961Trp	p.R961W	ENST00000368804	NM_007113.3	961	Cgg/Tgg	0			1			A	R/W	uc001ezp.2	protein_coding	YES	CCDS41396.1			2881/5832									ovary(3)|kidney(1)|central_nervous_system(1)	5	c.(2881-2883)CGG>TGG			Low_complexity_(Seg):seg	trichohyalin				ENSP00000357794		2-Feb									COSM3399707	2-Feb	.		ENST00000368804	Transcript			keratinization	cytoskeleton	calcium ion binding	ENSG00000159450	g.chr1:152082812G>A	11791			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=TRHY_HUMAN&rb=940&re=1139&var=R961W	NA	getma.org/?cm=var&var=hg19,1,152082812,G,A&fts=all	R961W	--	--	1																																		TCHH_uc009wne.1_Missense_Mutation_p.R961W	1	1		unknown(0)	p.R961W	NM_007113	NP_009044			1	TRHY_HUMAN	TCHH	HGNC	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		Q5D861_HUMAN,A2RRS3_HUMAN		2	2881	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000458A5E	961			4-2.|10 X 30 AA tandem repeats.		SNV	TCHH,missense_variant,p.Arg961Trp,ENST00000368804,NM_007113.3;	uc001ezp.2	c.2881C>T	2881/6900	1	1			c.2881C>T						1	SNP	c.(2881-2883)CGG>TGG	64	64			ovary(3)|kidney(1)|central_nervous_system(1)	5	Broad	trichohyalin			152082812		0.289	ENSG00000159450	15457	g.chr1:152082812G>A	keratinization	cytoskeleton	calcium ion binding							37.841963	KEEP	25	24	-1	141	129	25	24	-1	66.511385	141	129	0.16092	1	0	0	0	0	1	0	0	0	--	--		0	A			TCHH_uc009wne.1_Missense_Mutation_p.R961W	219	GBM-28-5211-TP	p.R961W	G	ttatccttcCGATATTGCCTT	NM_007113	NP_009044	152082812	Q07283	TRHY_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2881	-	A	A	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Missense_Mutation	961			4-2.|10 X 30 AA tandem repeats.			
TCHH	7062		GRCh37	1	152080354	152080354	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000368804.1:c.5339G>A	p.Arg1780His	p.R1780H	ENST00000368804	NM_007113.3	1780	cGc/cAc	0																																																																																																																																																																																																																																												
TCHH	7062		GRCh37	1	152081317	152081317	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000368804.1:c.4376G>A	p.Arg1459His	p.R1459H	ENST00000368804	NM_007113.3	1459	cGt/cAt	0																																																																																																																																																																																																																																												
TCHHL1	0	broad.mit.edu	GRCh37	1	152060548	152060548	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0615-01	TCGA-12-0615-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368806.1:c.72C>T	p.Asn24=	p.N24=	ENST00000368806	NM_001008536.1	24	aaC/aaT	0			1			A	N	uc001ezo.1	protein_coding	YES	CCDS30857.1			72/2715									ovary(1)|skin(1)	2	c.(70-72)AAC>AAT			hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF53,Pfam_domain:PF01023,Gene3D:1.10.238.10,Superfamily_domains:SSF47473	trichohyalin-like 1				ENSP00000357796		3-Feb	1.65E-05			0.000116				6.34E-05	rs779177279,COSM528886	3-Feb	.		ENST00000368806	Transcript					calcium ion binding	ENSG00000182898	g.chr1:152060548G>A	31796			LOW								--	--	1																																			0,1	1			p.N24N	NM_001008536	NP_001008536			0,1	TCHL1_HUMAN	TCHHL1	HGNC	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)				2	137	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000496834	24					SNV	TCHHL1,synonymous_variant,p.=,ENST00000368806,NM_001008536.1;	uc001ezo.1	c.72C>T	137/3603	1	1			c.72C>T						1	SNP	c.(70-72)AAC>AAT	52	52			ovary(1)|skin(1)	2	Broad	trichohyalin-like 1			152060548		0.473	ENSG00000182898	15458	g.chr1:152060548G>A			calcium ion binding							664.451527	KEEP	96	127	-1	67	79	96	127	-1	667.520828	67	79	0.60177	1	0	0	0	0	0	0	1	0	--	--		0	A				117	GBM-12-0615-TP	p.N24N	G	GTGTTGCCCCGTTACTGTCCT	NM_001008536	NP_001008536	152060548	Q5QJ38	TCHL1_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.246)		2	137	-	A	A	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Silent	24						
TCHHL1	0	broad.mit.edu	GRCh37	1	152058703	152058703	+	synonymous_variant	Silent	SNP	G	G	A	rs150195731	byFrequency	TCGA-14-2554-01	TCGA-14-2554-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368806.1:c.1455C>T	p.Asn485=	p.N485=	ENST00000368806	NM_001008536.1	485	aaC/aaT	0	A:0.0005		1			A	N	uc001ezo.1	protein_coding	YES	CCDS30857.1			1455/2715									ovary(1)|skin(1)	2	c.(1453-1455)AAC>AAT			hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF53	trichohyalin-like 1			A:0.0001	ENSP00000357796		3-Mar									rs150195731,COSM3399701	3-Mar	.		ENST00000368806	Transcript					calcium ion binding	ENSG00000182898	g.chr1:152058703G>A	31796			LOW								--	--	1																																			0,1	1			p.N485N	NM_001008536	NP_001008536			0,1	TCHL1_HUMAN	TCHHL1	HGNC	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)				3	1520	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		UPI0000496834	485					SNV	TCHHL1,synonymous_variant,p.=,ENST00000368806,NM_001008536.1;	uc001ezo.1	c.1455C>T	1520/3603	1	1			c.1455C>T						1	SNP	c.(1453-1455)AAC>AAT	61	61			ovary(1)|skin(1)	2	Broad	trichohyalin-like 1			152058703		0.478	ENSG00000182898	15458	g.chr1:152058703G>A			calcium ion binding							443.551209	KEEP	79	90	-1	161	156	79	90	-1	451.826152	161	156	0.354402	1	0	0	0	0	0	0	1	0	--	--		0	A				150	GBM-14-2554-TP	p.N485N	G	CTGCAGGTGCGTTTTTGCTGT	NM_001008536	NP_001008536	152058703	Q5QJ38	TCHL1_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.246)		3	1520	-	A	A	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Silent	485						
TCHP	84260		GRCh37	12	110352296	110352296	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000312777.5:c.1184G>A	p.Arg395Gln	p.R395Q	ENST00000312777	NM_032300.4	395	cGa/cAa	0																																																																																																																																																																																																																																												
TCL1B	9623	broad.mit.edu	GRCh37	14	96152931	96152931	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340722.7:c.127C>T	p.Arg43Cys	p.R43C	ENST00000340722	NM_004918.3	43	Cgt/Tgt	0			1			T	R/C	uc001yez.2	protein_coding	YES	CCDS32151.1			127/387									ovary(1)	1	c.(127-129)CGT>TGT			Superfamily_domains:SSF50904,Pfam_domain:PF01840,Gene3D:2.40.15.10,hmmpanther:PTHR14060,hmmpanther:PTHR14060:SF2	T-cell leukemia/lymphoma 1B				ENSP00000343223		4-Jan									COSM2149379	4-Jan	.		ENST00000340722	Transcript						ENSG00000213231	g.chr14:96152931C>T	11649			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=TCL1B_HUMAN&rb=1&re=125&var=R43C	getma.org/pdb.php?prot=TCL1B_HUMAN&from=1&to=125&var=R43C	getma.org/?cm=var&var=hg19,14,96152931,C,T&fts=all	R43C	--	--	1																																		TCL1B_uc001yew.2_Intron|TCL1B_uc001yex.2_Intron|TCL1B_uc010avj.2_Intron|TCL1B_uc001yfa.2_Missense_Mutation_p.R43C	1	1		benign(0.156)	p.R43C	NM_004918	NP_004909		tolerated(0.06)	1	TCL1B_HUMAN	TCL1B	HGNC	O95988	TCL1B_HUMAN		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)			1	169	+		all_cancers(154;0.103)	UPI0000136ACA	43					SNV	TCL1B,missense_variant,p.Arg43Cys,ENST00000340722,NM_004918.3;RP11-1070N10.6,intron_variant,,ENST00000461160,;RP11-1070N10.6,intron_variant,,ENST00000495847,;RP11-1070N10.6,intron_variant,,ENST00000553913,;RP11-1070N10.6,intron_variant,,ENST00000488933,;TCL1B,non_coding_transcript_exon_variant,,ENST00000464815,;TCL1B,upstream_gene_variant,,ENST00000556665,;	uc001yez.2	c.127C>T	178/1166	2	2			c.127C>T						14	SNP	c.(127-129)CGT>TGT	46	46			ovary(1)	1	Broad	T-cell leukemia/lymphoma 1B			96152931		0.672	ENSG00000213231	15462	g.chr14:96152931C>T										89.993803	KEEP	14	15	-1	10	12	14	15	-1	90.149758	10	12	0.56	1	0	0	0	0	1	0	0	0	--	--		0	T			TCL1B_uc001yew.2_Intron|TCL1B_uc001yex.2_Intron|TCL1B_uc010avj.2_Intron|TCL1B_uc001yfa.2_Missense_Mutation_p.R43C	12	GBM-06-0125-TP	p.R43C	C	CAATCCCTCGCGTAGGGAATG	NM_004918	NP_004909	96152931	O95988	TCL1B_HUMAN	0		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)	1	169	+	T	T		all_cancers(154;0.103)	Missense_Mutation	43						
TCN1	6947	broad.mit.edu	GRCh37	11	59630104	59630104	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0649-01	TCGA-06-0649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257264.3:c.351C>A	p.His117Gln	p.H117Q	ENST00000257264	NM_001062.3	117	caC/caA	0			1			T	H/Q	uc001noj.2	protein_coding	YES	CCDS7978.1			351/1302									ovary(2)	2	c.(349-351)CAC>CAA			hmmpanther:PTHR10559:SF13,hmmpanther:PTHR10559,Pfam_domain:PF01122	transcobalamin I precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)			ENSP00000257264		9-Mar									COSM334988	9-Mar	.		ENST00000257264	Transcript			cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	ENSG00000134827	g.chr11:59630104G>T	11652			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=TCO1_HUMAN&rb=6&re=331&var=H117Q	getma.org/pdb.php?prot=TCO1_HUMAN&from=6&to=331&var=H117Q	getma.org/?cm=var&var=hg19,11,59630104,G,T&fts=all	H117Q	--	--	1																																			1	1		benign(0.063)	p.H117Q	NM_001062	NP_001053		tolerated(0.11)	1	TCO1_HUMAN	TCN1	HGNC	P20061	TCO1_HUMAN					3	449	-		all_epithelial(135;0.198)	UPI000013CF55	117					SNV	TCN1,missense_variant,p.His117Gln,ENST00000257264,NM_001062.3;TCN1,non_coding_transcript_exon_variant,,ENST00000532419,;TCN1,non_coding_transcript_exon_variant,,ENST00000534531,;TCN1,non_coding_transcript_exon_variant,,ENST00000533734,;	uc001noj.2	c.351C>A	456/1582	1	1			c.351C>A						11	SNP	c.(349-351)CAC>CAA	13	13			ovary(2)	2	Broad	transcobalamin I precursor		Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	59630104		0.383	ENSG00000134827	15463	g.chr11:59630104G>T	cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding							22.754584	KEEP	11	10	0.523809524	79	69	11	10	0.523809524	42.505951	79	69	0.136364	1	0	0	0	0	1	0	0	0	--	--		0	T				62	GBM-06-0649-TP	p.H117Q	G	TGTCGATCAGGTGGTAATCAT	NM_001062	NP_001053	59630104	P20061	TCO1_HUMAN	0			3	449	-	T	T		all_epithelial(135;0.198)	Missense_Mutation	117						
TCN1	0	broad.mit.edu	GRCh37	11	59630133	59630133	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01	TCGA-28-5208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257264.3:c.322G>A	p.Ala108Thr	p.A108T	ENST00000257264	NM_001062.3	108	Gct/Act	0			1			T	A/T	uc001noj.2	protein_coding	YES	CCDS7978.1			322/1302									ovary(2)	2	c.(322-324)GCT>ACT			hmmpanther:PTHR10559:SF13,hmmpanther:PTHR10559,Pfam_domain:PF01122	transcobalamin I precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)			ENSP00000257264		9-Mar	5.77E-05				0.000302	7.49E-05			rs757531697,COSM1228787	9-Mar	.		ENST00000257264	Transcript			cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	ENSG00000134827	g.chr11:59630133C>T	11652			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TCO1_HUMAN&rb=6&re=331&var=A108T	getma.org/pdb.php?prot=TCO1_HUMAN&from=6&to=331&var=A108T	getma.org/?cm=var&var=hg19,11,59630133,C,T&fts=all	A108T	--	--	1																																			0,1	1		benign(0.001)	p.A108T	NM_001062	NP_001053		tolerated(0.15)	0,1	TCO1_HUMAN	TCN1	HGNC	P20061	TCO1_HUMAN					3	420	-		all_epithelial(135;0.198)	UPI000013CF55	108					SNV	TCN1,missense_variant,p.Ala108Thr,ENST00000257264,NM_001062.3;TCN1,non_coding_transcript_exon_variant,,ENST00000532419,;TCN1,non_coding_transcript_exon_variant,,ENST00000534531,;TCN1,upstream_gene_variant,,ENST00000533734,;	uc001noj.2	c.322G>A	427/1582	1	1			c.322G>A						11	SNP	c.(322-324)GCT>ACT	1	1			ovary(2)	2	Broad	transcobalamin I precursor		Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	59630133		0.358	ENSG00000134827	15463	g.chr11:59630133C>T	cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding							276.535785	KEEP	46	55	-1	84	88	46	55	-1	279.951614	84	88	0.376471	1	0	0	0	0	1	0	0	0	--	--		0	T				217	GBM-28-5208-TP	p.A108T	C	TTTTCCTCAGCGTTACGACAT	NM_001062	NP_001053	59630133	P20061	TCO1_HUMAN	0			3	420	-	T	T		all_epithelial(135;0.198)	Missense_Mutation	108						
TCN1	0	broad.mit.edu	GRCh37	11	59629106	59629106	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs139772818	by1000genomes	TCGA-32-1979-01	TCGA-32-1979-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257264.3:c.450C>G	p.Asp150Glu	p.D150E	ENST00000257264	NM_001062.3	150	gaC/gaG	0			1			C	D/E	uc001noj.2	protein_coding	YES	CCDS7978.1			450/1302									ovary(2)	2	c.(448-450)GAC>GAG			hmmpanther:PTHR10559:SF13,hmmpanther:PTHR10559,Pfam_domain:PF01122	transcobalamin I precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)			ENSP00000257264		9-Apr									COSM3397931	9-Apr	.		ENST00000257264	Transcript			cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	ENSG00000134827	g.chr11:59629106G>C	11652			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=TCO1_HUMAN&rb=6&re=331&var=D150E	getma.org/pdb.php?prot=TCO1_HUMAN&from=6&to=331&var=D150E	getma.org/?cm=var&var=hg19,11,59629106,G,C&fts=all	D150E	--	--	1																																			1	1		possibly_damaging(0.844)	p.D150E	NM_001062	NP_001053		deleterious(0.02)	1	TCO1_HUMAN	TCN1	HGNC	P20061	TCO1_HUMAN					4	548	-		all_epithelial(135;0.198)	UPI000013CF55	150					SNV	TCN1,missense_variant,p.Asp150Glu,ENST00000257264,NM_001062.3;TCN1,non_coding_transcript_exon_variant,,ENST00000532419,;TCN1,non_coding_transcript_exon_variant,,ENST00000534531,;TCN1,non_coding_transcript_exon_variant,,ENST00000533734,;	uc001noj.2	c.450C>G	555/1582	4	4			c.450C>G						11	SNP	c.(448-450)GAC>GAG	43	43			ovary(2)	2	Broad	transcobalamin I precursor		Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	59629106		0.438	ENSG00000134827	15463	g.chr11:59629106G>C	cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding							47.609298	KEEP	6	10	-1	21	22	6	10	-1	49.541303	21	22	0.294118	1	0	0	0	0	1	0	0	0	--	--		0	C				230	GBM-32-1979-TP	p.D150E	G	AGGCCAAAACGTCCAGGCTGA	NM_001062	NP_001053	59629106	P20061	TCO1_HUMAN	0			4	548	-	C	C		all_epithelial(135;0.198)	Missense_Mutation	150						
TCP10	6953	broad.mit.edu	GRCh37	6	167790118	167790118	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0169-01	TCGA-06-0169-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397829.4:c.492C>T	p.Pro164=	p.P164=	ENST00000397829	NM_004610.3	164	ccC/ccT	0			1			A	P	uc003qvv.1	protein_coding	YES	CCDS43527.1			492/981									breast(1)	1	c.(490-492)CCC>CCT			hmmpanther:PTHR10331	t-complex 10				ENSP00000380929		8-May									COSM2150277	8-May	.		ENST00000397829	Transcript				cytosol		ENSG00000203690	g.chr6:167790118G>A	11656			LOW								--	--	1																																		TCP10_uc003qvu.2_Silent_p.P164P|TCP10_uc003qvw.2_Silent_p.P140P	1	1			p.P164P	NM_004610	NP_004601			1		TCP10	HGNC	Q12799	TCP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)	D1MPS5_HUMAN		5	704	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	UPI0000D820CE	191					SNV	TCP10,synonymous_variant,p.=,ENST00000460930,;TCP10,synonymous_variant,p.=,ENST00000366827,;TCP10,synonymous_variant,p.=,ENST00000397829,NM_004610.3;TCP10,downstream_gene_variant,,ENST00000476779,;TCP10,downstream_gene_variant,,ENST00000485157,;TCP10,non_coding_transcript_exon_variant,,ENST00000508373,;TCP10,non_coding_transcript_exon_variant,,ENST00000463894,;TCP10,upstream_gene_variant,,ENST00000514083,;TCP10,downstream_gene_variant,,ENST00000491085,;	uc003qvv.1	c.492C>T	660/2141	2	2			c.492C>T						6	SNP	c.(490-492)CCC>CCT	48	48			breast(1)	1	Broad	t-complex 10			167790118		0.493	ENSG00000203690	15467	g.chr6:167790118G>A		cytosol								134.410221	KEEP	27	33	-1	102	74	27	33	-1	136.010102	102	74	0.373913	1	0	0	0	0	0	0	1	0	--	--		0	A			TCP10_uc003qvu.2_Silent_p.P164P|TCP10_uc003qvw.2_Silent_p.P140P	34	GBM-06-0169-TP	p.P164P	G	GACGTCTCCCGGGAGGACTTT	NM_004610	NP_004601	167790118	Q12799	TCP10_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)	5	704	-	A	A		Breast(66;1.53e-05)|Ovarian(120;0.024)	Silent	191						
TCTE1	0	broad.mit.edu	GRCh37	6	44255398	44255398	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371505.4:c.165G>A	p.Arg55=	p.R55=	ENST00000371505	NM_182539.3	55	agG/agA	0			1			T	R	uc003oxi.2	protein_coding	YES	CCDS4910.1			165/1506									ovary(2)|skin(2)	4	c.(163-165)AGG>AGA			hmmpanther:PTHR24107,hmmpanther:PTHR24107:SF2	t-complex-associated testis expressed 1				ENSP00000360560		5-Feb									COSM2154747	5-Feb	.		ENST00000371505	Transcript						ENSG00000146221	g.chr6:44255398C>T	11693			LOW								--	--	1																																		SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	1	1			p.R55R	NM_182539	NP_872345			1	TCTE1_HUMAN	TCTE1	HGNC	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)				2	321	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		UPI0000160BC0	55					SNV	TCTE1,synonymous_variant,p.=,ENST00000371505,NM_182539.3;TCTE1,5_prime_UTR_variant,,ENST00000371503,;TMEM151B,intron_variant,,ENST00000438774,;TCTE1,upstream_gene_variant,,ENST00000371504,;RP11-444E17.6,intron_variant,,ENST00000505802,;	uc003oxi.2	c.165G>A	288/3067	2	2			c.165G>A						6	SNP	c.(163-165)AGG>AGA	22	22			ovary(2)|skin(2)	4	Broad	t-complex-associated testis expressed 1			44255398		0.547	ENSG00000146221	15473	g.chr6:44255398C>T										138.071035	KEEP	25	22	-1	58	30	25	22	-1	140.109301	58	30	0.362903	1	0	0	0	0	0	0	1	0	--	--		0	T			SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	138	GBM-14-0813-TP	p.R55R	C	GGATATTGGCCCTGGGATGTG	NM_182539	NP_872345	44255398	Q5JU00	TCTE1_HUMAN	0	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		2	321	-	T	T	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Silent	55						
TCTN2	0	broad.mit.edu	GRCh37	12	124175182	124175182	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01	TCGA-14-3476-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303372.5:c.994G>A	p.Gly332Ser	p.G332S	ENST00000303372	NM_024809.4	332	Ggt/Agt	0			1			A	G/S	uc001ufp.2	protein_coding	YES	CCDS9253.1			994/2094									ovary(1)	1	c.(994-996)GGT>AGT			Pfam_domain:PF07773,hmmpanther:PTHR14611,hmmpanther:PTHR14611:SF3	tectonic family member 2 isoform 1				ENSP00000304941		18-Aug									COSM3398491	18-Aug	.		ENST00000303372	Transcript	1		cilium assembly|smoothened signaling pathway	integral to membrane		ENSG00000168778	g.chr12:124175182G>A	25774			MODERATE		0.63	neutral	getma.org/?cm=msa&ty=f&p=TECT2_HUMAN&rb=171&re=444&var=G332S	NA	getma.org/?cm=var&var=hg19,12,124175182,G,A&fts=all	G332S	--	--	1																																		TCTN2_uc009zya.2_Missense_Mutation_p.G331S	1	1		benign(0.062)	p.G332S	NM_024809	NP_079085		tolerated(0.36)	1	TECT2_HUMAN	TCTN2	HGNC	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)			8	1122	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		UPI0000038A56	332			Extracellular (Potential).		SNV	TCTN2,missense_variant,p.Gly332Ser,ENST00000303372,NM_024809.4,NM_001143850.2;TCTN2,missense_variant,p.Gly331Ser,ENST00000426174,;TCTN2,upstream_gene_variant,,ENST00000543998,;	uc001ufp.2	c.994G>A	1122/2910	1	1			c.994G>A						12	SNP	c.(994-996)GGT>AGT	64	64			ovary(1)	1	Broad	tectonic family member 2 isoform 1			124175182		0.388	ENSG00000168778	15479	g.chr12:124175182G>A	cilium assembly|smoothened signaling pathway	integral to membrane								101.741035	KEEP	26	19	-1	63	40	26	19	-1	106.937285	63	40	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	A			TCTN2_uc009zya.2_Missense_Mutation_p.G331S	151	GBM-14-3476-TP	p.G332S	G	AGAACGAGATGGTATTATCAA	NM_024809	NP_079085	124175182	Q96GX1	TECT2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	8	1122	+	A	A	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Missense_Mutation	332			Extracellular (Potential).			
TDG	6996	broad.mit.edu	GRCh37	12	104378553	104378553	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-2562-01	TCGA-06-2562-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392872.3:c.819T>A	p.Ser273Arg	p.S273R	ENST00000392872	NM_003211.4	273	agT/agA	0			1			A	S/R	uc001tkg.2	protein_coding	YES	CCDS9095.1			819/1233									ovary(3)|lung(3)	6	c.(817-819)AGT>AGA		BER_DNA_glycosylases	Gene3D:3.40.470.10,Pfam_domain:PF03167,hmmpanther:PTHR12159,hmmpanther:PTHR12159:SF9,Superfamily_domains:SSF52141,TIGRFAM_domain:TIGR00584	thymine-DNA glycosylase				ENSP00000376611		10-Aug									COSM3398267	10-Aug	.		ENST00000392872	Transcript			depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	ENSG00000139372	g.chr12:104378553T>A	11700			MODERATE		3.58	high	getma.org/?cm=msa&ty=f&p=TDG_HUMAN&rb=125&re=293&var=S273R	getma.org/pdb.php?prot=TDG_HUMAN&from=125&to=293&var=S273R	getma.org/?cm=var&var=hg19,12,104378553,T,A&fts=all	S273R	--	--	1																																		TDG_uc009zuk.2_Missense_Mutation_p.S269R|TDG_uc010swi.1_Missense_Mutation_p.S130R|TDG_uc010swj.1_Missense_Mutation_p.S61R	1	1		probably_damaging(1)	p.S273R	NM_003211	NP_003202		deleterious(0)	1	TDG_HUMAN	TDG	HGNC	Q13569	TDG_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00114)	F5H539_HUMAN,B4E127_HUMAN		8	1042	+			UPI00000740E5	273					SNV	TDG,missense_variant,p.Ser273Arg,ENST00000392872,NM_003211.4;TDG,missense_variant,p.Ser269Arg,ENST00000266775,;TDG,missense_variant,p.Ser130Arg,ENST00000544861,;TDG,missense_variant,p.Ser69Arg,ENST00000542036,;GLT8D2,downstream_gene_variant,,ENST00000360814,NM_031302.3;GLT8D2,downstream_gene_variant,,ENST00000548660,;GLT8D2,downstream_gene_variant,,ENST00000546436,;TDG,downstream_gene_variant,,ENST00000537100,;TDG,downstream_gene_variant,,ENST00000436021,;AC078819.1,upstream_gene_variant,,ENST00000401157,;TDG,upstream_gene_variant,,ENST00000536395,;TDG,3_prime_UTR_variant,,ENST00000540956,;TDG,non_coding_transcript_exon_variant,,ENST00000542926,;TDG,downstream_gene_variant,,ENST00000544060,;TDG,downstream_gene_variant,,ENST00000545698,;	uc001tkg.2	c.819T>A	1053/3251	2	2			c.819T>A						12	SNP	c.(817-819)AGT>AGA	30	30			ovary(3)|lung(3)	6	Broad	thymine-DNA glycosylase	BER_DNA_glycosylases		104378553		0.338	ENSG00000139372	15481	g.chr12:104378553T>A	depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity							11.877327	KEEP	4	9	-1	68	69	4	9	-1	32.400738	68	69	0.100775	1	0	0	0	0	1	0	0	0	--	--		0	A			TDG_uc009zuk.2_Missense_Mutation_p.S269R|TDG_uc010swi.1_Missense_Mutation_p.S130R|TDG_uc010swj.1_Missense_Mutation_p.S61R	85	GBM-06-2562-TP	p.S273R	T	CATCATCCAGTGCAAGATGTG	NM_003211	NP_003202	104378553	Q13569	TDG_HUMAN	0		BRCA - Breast invasive adenocarcinoma(302;0.00114)	8	1042	+	A	A			Missense_Mutation	273						
TDP2	0	broad.mit.edu	GRCh37	6	24666809	24666809	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01	TCGA-16-1045-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378198.4:c.196G>A	p.Val66Met	p.V66M	ENST00000378198		66	Gtg/Atg	0			1			T	V/M	uc003nej.2	protein_coding	YES	CCDS4557.1			196/1089									ovary(1)|lung(1)	2	c.(196-198)GTG>ATG		Direct_reversal_of_damage|Editing_and_processing_nucleases	hmmpanther:PTHR15822,hmmpanther:PTHR15822:SF4	TRAF and TNF receptor-associated protein				ENSP00000367440		7-Feb									COSM3410834,COSM3410835	7-Feb	.		ENST00000378198	Transcript	1		cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity	ENSG00000111802	g.chr6:24666809C>T	17768			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=TYDP2_HUMAN&rb=1&re=116&var=V66M	NA	getma.org/?cm=var&var=hg19,6,24666809,C,T&fts=all	V66M	--	--	1																																		TDP2_uc003nei.2_Translation_Start_Site|TDP2_uc010jpu.1_Missense_Mutation_p.V66M|ACOT13_uc010jpv.2_5'Flank|ACOT13_uc003nek.2_5'Flank	1,1	1		benign(0.021)	p.V66M	NM_016614	NP_057698		tolerated(0.38)	1,1	TYDP2_HUMAN	TDP2	HGNC	O95551	TYDP2_HUMAN					2	221	-			UPI0000032018	66					SNV	TDP2,missense_variant,p.Val66Met,ENST00000378198,;TDP2,missense_variant,p.Val96Met,ENST00000545995,NM_016614.2;TDP2,5_prime_UTR_variant,,ENST00000341060,;ACOT13,upstream_gene_variant,,ENST00000537591,NM_001160094.1;ACOT13,upstream_gene_variant,,ENST00000230048,NM_018473.3;TDP2,non_coding_transcript_exon_variant,,ENST00000480495,;TDP2,non_coding_transcript_exon_variant,,ENST00000478507,;	uc003nej.2	c.196G>A	367/2071	2	2			c.196G>A						6	SNP	c.(196-198)GTG>ATG	35	35			ovary(1)|lung(1)	2	Broad	TRAF and TNF receptor-associated protein	Direct_reversal_of_damage|Editing_and_processing_nucleases		24666809		0.582	ENSG00000111802	15485	g.chr6:24666809C>T	cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity							264.499569	KEEP	53	61	-1	148	184	53	61	-1	286.061671	148	184	0.257426	1	0	0	0	0	1	0	0	0	--	--		0	T			TDP2_uc003nei.2_Translation_Start_Site|TDP2_uc010jpu.1_Missense_Mutation_p.V66M|ACOT13_uc010jpv.2_5'Flank|ACOT13_uc003nek.2_5'Flank	157	GBM-16-1045-TP	p.V66M	C	CTCTCCTCCACCGGAGGCTCG	NM_016614	NP_057698	24666809	O95551	TYDP2_HUMAN	0			2	221	-	T	T			Missense_Mutation	66						
TDP2	0	broad.mit.edu	GRCh37	6	24658115	24658115	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-27-2524-01	TCGA-27-2524-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378198.4:c.442A>G	p.Ile148Val	p.I148V	ENST00000378198		148	Ata/Gta	0			1			C	I/V	uc003nej.2	protein_coding	YES	CCDS4557.1			442/1089									ovary(1)|lung(1)	2	c.(442-444)ATA>GTA		Direct_reversal_of_damage|Editing_and_processing_nucleases	Superfamily_domains:SSF56219,Pfam_domain:PF03372,Gene3D:3.60.10.10,hmmpanther:PTHR15822,hmmpanther:PTHR15822:SF4	TRAF and TNF receptor-associated protein				ENSP00000367440		7-Apr									COSM3410832,COSM3410833	7-Apr	.		ENST00000378198	Transcript	1		cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity	ENSG00000111802	g.chr6:24658115T>C	17768			MODERATE		-1.44	neutral	getma.org/?cm=msa&ty=f&p=TYDP2_HUMAN&rb=117&re=351&var=I148V	NA	getma.org/?cm=var&var=hg19,6,24658115,T,C&fts=all	I148V	--	--	1																																		TDP2_uc003nei.2_Missense_Mutation_p.I36V|TDP2_uc010jpu.1_Missense_Mutation_p.I148V	1,1	1		benign(0.007)	p.I148V	NM_016614	NP_057698		tolerated(1)	1,1	TYDP2_HUMAN	TDP2	HGNC	O95551	TYDP2_HUMAN					4	467	-			UPI0000032018	148					SNV	TDP2,missense_variant,p.Ile90Val,ENST00000341060,;TDP2,missense_variant,p.Ile148Val,ENST00000378198,;TDP2,missense_variant,p.Ile178Val,ENST00000545995,NM_016614.2;TDP2,non_coding_transcript_exon_variant,,ENST00000478285,;TDP2,intron_variant,,ENST00000478507,;	uc003nej.2	c.442A>G	613/2071	3	3			c.442A>G						6	SNP	c.(442-444)ATA>GTA	64	64			ovary(1)|lung(1)	2	Broad	TRAF and TNF receptor-associated protein	Direct_reversal_of_damage|Editing_and_processing_nucleases		24658115		0.313	ENSG00000111802	15485	g.chr6:24658115T>C	cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity							198.844264	KEEP	26	42	-1	51	60	26	42	-1	200.831119	51	60	0.377483	1	0	0	0	0	1	0	0	0	--	--		0	C			TDP2_uc003nei.2_Missense_Mutation_p.I36V|TDP2_uc010jpu.1_Missense_Mutation_p.I148V	202	GBM-27-2524-TP	p.I148V	T	TGTAGAAATATCACATCTGGG	NM_016614	NP_057698	24658115	O95551	TYDP2_HUMAN	0			4	467	-	C	C			Missense_Mutation	148						
TDRD1	0	broad.mit.edu	GRCh37	10	115947725	115947725	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-12-5295-01	TCGA-12-5295-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251864.2:c.135A>G	p.Gly45=	p.G45=	ENST00000251864	NM_198795.1	45	ggA/ggG	0			1			G	G	uc001lbg.1	protein_coding	YES	CCDS7588.1			135/3570										0	c.(133-135)GGA>GGG			hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF4	tudor domain containing 1				ENSP00000251864		26-Feb	8.24E-06							6.06E-05	rs750754586,COSM3396923	26-Feb	.		ENST00000251864	Transcript			DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	ENSG00000095627	g.chr10:115947725A>G	11712			LOW								--	--	1																																		TDRD1_uc001lbf.2_Silent_p.G36G|TDRD1_uc001lbh.1_Silent_p.G36G|TDRD1_uc001lbi.1_Silent_p.G36G	0,1	1			p.G45G	NM_198795	NP_942090			0,1	TDRD1_HUMAN	TDRD1	HGNC	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)			2	288	+		Colorectal(252;0.172)|Breast(234;0.188)	UPI00001F9753	45					SNV	TDRD1,synonymous_variant,p.=,ENST00000251864,NM_198795.1;TDRD1,synonymous_variant,p.=,ENST00000369281,;TDRD1,synonymous_variant,p.=,ENST00000369280,;TDRD1,synonymous_variant,p.=,ENST00000369282,;TDRD1,5_prime_UTR_variant,,ENST00000422662,;	uc001lbg.1	c.135A>G	288/4510	4	4			c.135A>G						10	SNP	c.(133-135)GGA>GGG	30	30				0	Broad	tudor domain containing 1			115947725		0.358	ENSG00000095627	15486	g.chr10:115947725A>G	DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding							-21.273518	KEEP	1	2	-1	63	57	1	2	-1	6.721414	63	57	0.026549	1	0	0	0	0	0	0	1	0	--	--		0	G			TDRD1_uc001lbf.2_Silent_p.G36G|TDRD1_uc001lbh.1_Silent_p.G36G|TDRD1_uc001lbi.1_Silent_p.G36G	129	GBM-12-5295-TP	p.G45G	A	GAAGTCCTGGAACACTTCCTA	NM_198795	NP_942090	115947725	Q9BXT4	TDRD1_HUMAN	0		Epithelial(162;0.0343)|all cancers(201;0.0754)	2	288	+	G	G		Colorectal(252;0.172)|Breast(234;0.188)	Silent	45						
TDRD10	0	broad.mit.edu	GRCh37	1	154516509	154516509	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs143192137	byFrequency	TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368480.3:c.574G>A	p.Val192Ile	p.V192I	ENST00000368480		192	Gtc/Atc	0	A:0		1			A	V/I	uc009wow.2	protein_coding	YES	CCDS41406.1			574/1101									ovary(1)	1	c.(574-576)GTC>ATC			hmmpanther:PTHR22948:SF12,hmmpanther:PTHR22948	tudor domain containing 10 isoform a			A:0.0005	ENSP00000357465		12-Sep	0.000362	9.61E-05	0.000173		0.000151	0.000599			rs143192137,COSM2154660	12-Sep	common_variant		ENST00000368480	Transcript					nucleotide binding|RNA binding	ENSG00000163239	g.chr1:154516509G>A	25316			MODERATE		-0.46	neutral	getma.org/?cm=msa&ty=f&p=TDR10_HUMAN&rb=102&re=194&var=V192I	NA	getma.org/?cm=var&var=hg19,1,154516509,G,A&fts=all	V192I	--	--	1																																		TDRD10_uc001ffd.2_Missense_Mutation_p.V192I|TDRD10_uc001ffe.2_Missense_Mutation_p.V113I	0,1	1		benign(0)	p.V192I	NM_001098475	NP_001091945		tolerated(0.64)	0,1	TDR10_HUMAN	TDRD10	HGNC	Q5VZ19	TDR10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)				9	1412	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		UPI0001533DB6	192					SNV	TDRD10,missense_variant,p.Val192Ile,ENST00000368482,NM_182499.3,NM_001098475.1;TDRD10,missense_variant,p.Val192Ile,ENST00000368480,;UBE2Q1,downstream_gene_variant,,ENST00000292211,NM_017582.6;TDRD10,non_coding_transcript_exon_variant,,ENST00000479937,;TDRD10,non_coding_transcript_exon_variant,,ENST00000468714,;TDRD10,non_coding_transcript_exon_variant,,ENST00000462871,;	uc009wow.2	c.574G>A	659/1776	1	1			c.574G>A						1	SNP	c.(574-576)GTC>ATC	55	55			ovary(1)	1	Broad	tudor domain containing 10 isoform a			154516509		0.612	ENSG00000163239	15487	g.chr1:154516509G>A			nucleotide binding|RNA binding							128.688241	KEEP	30	28	-1	74	62	30	28	-1	133.697988	74	62	0.3125	1	0	0	0	0	1	0	0	0	--	--		0	A			TDRD10_uc001ffd.2_Missense_Mutation_p.V192I|TDRD10_uc001ffe.2_Missense_Mutation_p.V113I	142	GBM-14-1034-TP	p.V192I	G	CATCCATAGCGTCCGTGGGGA	NM_001098475	NP_001091945	154516509	Q5VZ19	TDR10_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.185)		9	1412	+	A	A	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Missense_Mutation	192						
TDRD10	0	broad.mit.edu	GRCh37	1	154479756	154479756	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-32-1986-01	TCGA-32-1986-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368480.3:c.42G>C	p.Leu14=	p.L14=	ENST00000368480		14	ctG/ctC	0			1			C	L	uc009wow.2	protein_coding	YES	CCDS41406.1			42/1101									ovary(1)	1	c.(40-42)CTG>CTC				tudor domain containing 10 isoform a				ENSP00000357465		12-Mar									COSM3399790	12-Mar	.		ENST00000368480	Transcript					nucleotide binding|RNA binding	ENSG00000163239	g.chr1:154479756G>C	25316			LOW								--	--	1																																		TDRD10_uc001ffd.2_Silent_p.L14L	1	1			p.L14L	NM_001098475	NP_001091945			1	TDR10_HUMAN	TDRD10	HGNC	Q5VZ19	TDR10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)				3	880	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		UPI0001533DB6	14					SNV	TDRD10,synonymous_variant,p.=,ENST00000368482,NM_182499.3,NM_001098475.1;TDRD10,synonymous_variant,p.=,ENST00000368480,;	uc009wow.2	c.42G>C	127/1776	3	3			c.42G>C						1	SNP	c.(40-42)CTG>CTC	7	7			ovary(1)	1	Broad	tudor domain containing 10 isoform a			154479756		0.502	ENSG00000163239	15487	g.chr1:154479756G>C			nucleotide binding|RNA binding							61.896805	KEEP	15	9	-1	27	27	15	9	-1	64.871365	27	27	0.279412	1	0	0	0	0	0	0	1	0	--	--		0	C			TDRD10_uc001ffd.2_Silent_p.L14L	233	GBM-32-1986-TP	p.L14L	G	CTGATAAACTGTTTGGGAAGA	NM_001098475	NP_001091945	154479756	Q5VZ19	TDR10_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.185)		3	880	+	C	C	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Silent	14						
TDRD10	0	broad.mit.edu	GRCh37	1	154493902	154493902	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-76-4934-01	TCGA-76-4934-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368480.3:c.319delA	p.Arg107GlyfsTer9	p.R107Gfs*9	ENST00000368480		106	Aaa/aa	0			1			-	K/X	uc009wow.2	protein_coding	YES	CCDS41406.1			316/1101									ovary(1)	1	c.(316-318)AAAfs			PROSITE_profiles:PS50102,hmmpanther:PTHR22948:SF12,hmmpanther:PTHR22948,Gene3D:3.30.70.330,Superfamily_domains:SSF54928	tudor domain containing 10 isoform a				ENSP00000357465		12-Jun									COSM1721370	12-Jun	.		ENST00000368480	Transcript					nucleotide binding|RNA binding	ENSG00000163239	g.chr1:154493902delA	25316	3		HIGH								--	--	1																																		TDRD10_uc001ffd.2_Frame_Shift_Del_p.K106fs|TDRD10_uc001ffe.2_Frame_Shift_Del_p.K27fs	1	1			p.K106fs	NM_001098475	NP_001091945			1	TDR10_HUMAN	TDRD10	HGNC	Q5VZ19	TDR10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)				6	1154	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		UPI0001533DB6	106			RRM.		deletion	TDRD10,frameshift_variant,p.Arg107GlyfsTer9,ENST00000368482,NM_182499.3,NM_001098475.1;TDRD10,frameshift_variant,p.Arg107GlyfsTer9,ENST00000368480,;TDRD10,non_coding_transcript_exon_variant,,ENST00000479937,;	uc009wow.2	c.316delA	401/1776	5	5			c.316delA						1	DEL	c.(316-318)AAAfs	56	56			ovary(1)	1	Broad	tudor domain containing 10 isoform a			154493902		0.517	ENSG00000163239	15487	g.chr1:154493902delA			nucleotide binding|RNA binding																				0.01	1	1	0	1	0	0	0	0	0	--	--		0	-			TDRD10_uc001ffd.2_Frame_Shift_Del_p.K106fs|TDRD10_uc001ffe.2_Frame_Shift_Del_p.K27fs	272	GBM-76-4934-TP	p.K106fs	A	GAATACAAGCAAAAGGCCCCC	NM_001098475	NP_001091945	154493902	Q5VZ19	TDR10_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.185)		6	1154	+	-	-	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Frame_Shift_Del	106			RRM.			
TDRD5	0	broad.mit.edu	GRCh37	1	179620128	179620128	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01	TCGA-26-6174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294848.8:c.1927G>A	p.Glu643Lys	p.E643K	ENST00000294848	NM_173533.3	643	Gaa/Aaa	0			1			A	E/K	uc001gnf.1	protein_coding		CCDS1332.1			1927/2946									ovary(2)|skin(2)|central_nervous_system(1)	5	c.(1927-1929)GAA>AAA			hmmpanther:PTHR22948	tudor domain containing 5				ENSP00000294848		17-Dec									COSM1336717,COSM3400046	17-Dec	.		ENST00000294848	Transcript			DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	ENSG00000162782	g.chr1:179620128G>A	20614			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=TDRD5_HUMAN&rb=596&re=720&var=E643K	NA	getma.org/?cm=var&var=hg19,1,179620128,G,A&fts=all	E643K	--	--	1																																		TDRD5_uc010pnp.1_Missense_Mutation_p.E643K|TDRD5_uc001gnh.1_Missense_Mutation_p.E198K	1,1			probably_damaging(0.997)	p.E643K	NM_173533	NP_775804		deleterious(0)	1,1	TDRD5_HUMAN	TDRD5	HGNC	Q8NAT2	TDRD5_HUMAN					12	2177	+			UPI00001C0E0A	643					SNV	TDRD5,missense_variant,p.Glu643Lys,ENST00000444136,NM_001199089.1,NM_001199085.1;TDRD5,missense_variant,p.Glu643Lys,ENST00000367614,NM_001199091.1;TDRD5,missense_variant,p.Glu643Lys,ENST00000294848,NM_173533.3,NM_001199092.1;TDRD5,missense_variant,p.Glu99Lys,ENST00000417329,;	uc001gnf.1	c.1927G>A	2177/3525	1	1			c.1927G>A						1	SNP	c.(1927-1929)GAA>AAA	62	62			ovary(2)|skin(2)|central_nervous_system(1)	5	Broad	tudor domain containing 5			179620128		0.413	ENSG00000162782	15489	g.chr1:179620128G>A	DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding							-9.53	KEEP	2	3	-1	49	53	2	3	-1	10.213162	49	53	0.053191	1	0	0	0	0	1	0	0	0	--	--		0	A			TDRD5_uc010pnp.1_Missense_Mutation_p.E643K|TDRD5_uc001gnh.1_Missense_Mutation_p.E198K	188	GBM-26-6174-TP	p.E643K	G	ATCCTCAAACGAAGATGTCTA	NM_173533	NP_775804	179620128	Q8NAT2	TDRD5_HUMAN	0			12	2177	+	A	A			Missense_Mutation	643						
TDRD6	221400	broad.mit.edu	GRCh37	6	46659003	46659003	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0192-01	TCGA-06-0192-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316081.6:c.3138T>A	p.Asp1046Glu	p.D1046E	ENST00000316081	NM_001010870.2	1046	gaT/gaA	0			1			A	D/E	uc003oyj.2	protein_coding	YES	CCDS34470.1			3138/6291									breast(3)|ovary(2)|skin(1)	6	c.(3136-3138)GAT>GAA			Gene3D:2.30.30.140,Pfam_domain:PF00567,PROSITE_profiles:PS50304,hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF7,SMART_domains:SM00333,Superfamily_domains:SSF63748	tudor domain containing 6				ENSP00000346065		4-Jan									COSM2150638	4-Jan	.		ENST00000316081	Transcript			cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	ENSG00000180113	g.chr6:46659003T>A	21339			MODERATE		2.535	medium	getma.org/?cm=msa&ty=f&p=TDRD6_HUMAN&rb=982&re=1102&var=D1046E	getma.org/pdb.php?prot=TDRD6_HUMAN&from=982&to=1102&var=D1046E	getma.org/?cm=var&var=hg19,6,46659003,T,A&fts=all	D1046E	--	--	1																																		TDRD6_uc010jze.2_Missense_Mutation_p.D1040E	1	1		probably_damaging(1)	p.D1046E	NM_001010870	NP_001010870		deleterious(0)	1	TDRD6_HUMAN	TDRD6	HGNC	O60522	TDRD6_HUMAN	Lung(136;0.192)				1	3138	+			UPI0000251E8A	1046			Tudor 5.		SNV	TDRD6,missense_variant,p.Asp1046Glu,ENST00000544460,NM_001168359.1;TDRD6,missense_variant,p.Asp1046Glu,ENST00000316081,NM_001010870.2;TDRD6,upstream_gene_variant,,ENST00000450697,;RP11-446F17.3,upstream_gene_variant,,ENST00000434329,;RP11-446F17.3,upstream_gene_variant,,ENST00000422284,;RP11-446F17.3,upstream_gene_variant,,ENST00000571590,;	uc003oyj.2	c.3138T>A	3138/6817	2	2			c.3138T>A						6	SNP	c.(3136-3138)GAT>GAA	24	24			breast(3)|ovary(2)|skin(1)	6	Broad	tudor domain containing 6			46659003		0.358	ENSG00000180113	15490	g.chr6:46659003T>A	cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding							121.661192	KEEP	22	19	-1	26	31	22	19	-1	122.354141	26	31	0.406593	1	0	0	0	0	1	0	0	0	--	--		0	A			TDRD6_uc010jze.2_Missense_Mutation_p.D1040E	44	GBM-06-0192-TP	p.D1046E	T	AGTATACTGATGGAAACTGGT	NM_001010870	NP_001010870	46659003	O60522	TDRD6_HUMAN	0	Lung(136;0.192)		1	3138	+	A	A			Missense_Mutation	1046			Tudor 5.			
TDRD6	0	broad.mit.edu	GRCh37	6	46658201	46658201	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-41-5651-01	TCGA-41-5651-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316081.6:c.2336C>G	p.Ser779Cys	p.S779C	ENST00000316081	NM_001010870.2	779	tCt/tGt	0			1			G	S/C	uc003oyj.2	protein_coding	YES	CCDS34470.1			2336/6291									breast(3)|ovary(2)|skin(1)	6	c.(2335-2337)TCT>TGT			Pfam_domain:PF00567,hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF7	tudor domain containing 6				ENSP00000346065		4-Jan									COSM3411149	4-Jan	.		ENST00000316081	Transcript			cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	ENSG00000180113	g.chr6:46658201C>G	21339			MODERATE		1.915	medium	getma.org/?cm=msa&ty=f&p=TDRD6_HUMAN&rb=768&re=886&var=S779C	getma.org/pdb.php?prot=TDRD6_HUMAN&from=768&to=886&var=S779C	getma.org/?cm=var&var=hg19,6,46658201,C,G&fts=all	S779C	--	--	1																																		TDRD6_uc010jze.2_Missense_Mutation_p.S773C	1	1		probably_damaging(0.998)	p.S779C	NM_001010870	NP_001010870		deleterious(0)	1	TDRD6_HUMAN	TDRD6	HGNC	O60522	TDRD6_HUMAN	Lung(136;0.192)				1	2336	+			UPI0000251E8A	779					SNV	TDRD6,missense_variant,p.Ser779Cys,ENST00000544460,NM_001168359.1;TDRD6,missense_variant,p.Ser779Cys,ENST00000316081,NM_001010870.2;TDRD6,upstream_gene_variant,,ENST00000450697,;RP11-446F17.3,upstream_gene_variant,,ENST00000434329,;RP11-446F17.3,upstream_gene_variant,,ENST00000422284,;RP11-446F17.3,upstream_gene_variant,,ENST00000571590,;	uc003oyj.2	c.2336C>G	2336/6817	3	3			c.2336C>G						6	SNP	c.(2335-2337)TCT>TGT	56	56			breast(3)|ovary(2)|skin(1)	6	Broad	tudor domain containing 6			46658201		0.388	ENSG00000180113	15490	g.chr6:46658201C>G	cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding							76.444687	KEEP	8	15	-1	7	23	8	15	-1	76.555778	7	23	0.44898	1	0	0	0	0	1	0	0	0	--	--		0	G			TDRD6_uc010jze.2_Missense_Mutation_p.S773C	258	GBM-41-5651-TP	p.S779C	C	GTCAGAGTGTCTTATGTTGAA	NM_001010870	NP_001010870	46658201	O60522	TDRD6_HUMAN	0	Lung(136;0.192)		1	2336	+	G	G			Missense_Mutation	779						
TDRD6	221400		GRCh37	6	46658843	46658843	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0240-01	TCGA-06-0240-01																				ENST00000316081.6:c.2978C>T	p.Thr993Met	p.T993M	ENST00000316081	NM_001010870.2	993	aCg/aTg	0																																																																																																																																																																																																																																												
TDRD7	23424	broad.mit.edu	GRCh37	9	100227272	100227272	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-02-2485-01	TCGA-02-2485-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355295.4:c.1591C>A	p.Arg531=	p.R531=	ENST00000355295	NM_014290.2	531	Cgg/Agg	0			1			A	R	uc004axj.2	protein_coding	YES	CCDS6725.1			1591/3297									ovary(2)|pancreas(1)	3	c.(1591-1593)CGG>AGG			Gene3D:2.30.30.140,Pfam_domain:PF00567,PROSITE_profiles:PS50304,hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF14,SMART_domains:SM00333,Superfamily_domains:SSF63748	tudor domain containing 7				ENSP00000347444		17-Aug									COSM3413189	17-Aug	.		ENST00000355295	Transcript	1		lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	ENSG00000196116	g.chr9:100227272C>A	30831			LOW								--	--	1																																		TDRD7_uc011lux.1_Silent_p.R457R	1	1			p.R531R	NM_014290	NP_055105			1	TDRD7_HUMAN	TDRD7	HGNC	Q8NHU6	TDRD7_HUMAN					8	1816	+		Acute lymphoblastic leukemia(62;0.158)	UPI00002114B5	531			Tudor 1.		SNV	TDRD7,synonymous_variant,p.=,ENST00000355295,NM_014290.2;TDRD7,synonymous_variant,p.=,ENST00000422139,;TDRD7,upstream_gene_variant,,ENST00000540902,;	uc004axj.2	c.1591C>A	1886/3834	1	1			c.1591C>A						9	SNP	c.(1591-1593)CGG>AGG	63	63			ovary(2)|pancreas(1)	3	Broad	tudor domain containing 7			100227272		0.423	ENSG00000196116	15491	g.chr9:100227272C>A	lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding							-14.447315	KEEP	2	1	0.333333333	39	52	2	1	0.333333333	6.636999	39	52	0.033708	1	0	0	0	0	0	0	1	0	--	--		0	A			TDRD7_uc011lux.1_Silent_p.R457R	7	GBM-02-2485-TP	p.R531R	C	CGCCTGGTTACGGGCACAGGT	NM_014290	NP_055105	100227272	Q8NHU6	TDRD7_HUMAN	0			8	1816	+	A	A		Acute lymphoblastic leukemia(62;0.158)	Silent	531			Tudor 1.			
TDRD7	0	broad.mit.edu	GRCh37	9	100235814	100235814	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-2629-01	TCGA-19-2629-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355295.4:c.1985G>T	p.Cys662Phe	p.C662F	ENST00000355295	NM_014290.2	662	tGc/tTc	0			1			T	C/F	uc004axj.2	protein_coding	YES	CCDS6725.1			1985/3297									ovary(2)|pancreas(1)	3	c.(1984-1986)TGC>TTC			Pfam_domain:PF00567,hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF14	tudor domain containing 7				ENSP00000347444		17-Nov									COSM2156277	17-Nov	.		ENST00000355295	Transcript	1		lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	ENSG00000196116	g.chr9:100235814G>T	30831			MODERATE		1.95	medium	getma.org/?cm=msa&ty=f&p=TDRD7_HUMAN&rb=648&re=775&var=C662F	getma.org/pdb.php?prot=TDRD7_HUMAN&from=648&to=775&var=C662F	getma.org/?cm=var&var=hg19,9,100235814,G,T&fts=all	C662F	--	--	1																																		TDRD7_uc011lux.1_Missense_Mutation_p.C588F|TDRD7_uc010msp.1_5'UTR|TDRD7_uc011luy.1_Missense_Mutation_p.C11F	1	1		probably_damaging(0.998)	p.C662F	NM_014290	NP_055105		tolerated(0.13)	1	TDRD7_HUMAN	TDRD7	HGNC	Q8NHU6	TDRD7_HUMAN					11	2210	+		Acute lymphoblastic leukemia(62;0.158)	UPI00002114B5	662					SNV	TDRD7,missense_variant,p.Cys662Phe,ENST00000355295,NM_014290.2;TDRD7,missense_variant,p.Cys588Phe,ENST00000422139,;TDRD7,missense_variant,p.Cys11Phe,ENST00000540902,;	uc004axj.2	c.1985G>T	2280/3834	1	1			c.1985G>T						9	SNP	c.(1984-1986)TGC>TTC	12	12			ovary(2)|pancreas(1)	3	Broad	tudor domain containing 7			100235814		0.443	ENSG00000196116	15491	g.chr9:100235814G>T	lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding							294.306399	KEEP	54	55	0.495412844	110	92	54	55	0.495412844	299.34631	110	92	0.357143	1	0	0	0	0	1	0	0	0	--	--		0	T			TDRD7_uc011lux.1_Missense_Mutation_p.C588F|TDRD7_uc010msp.1_5'UTR|TDRD7_uc011luy.1_Missense_Mutation_p.C11F	166	GBM-19-2629-TP	p.C662F	G	ACTAATATTTGCTCTGATGGG	NM_014290	NP_055105	100235814	Q8NHU6	TDRD7_HUMAN	0			11	2210	+	T	T		Acute lymphoblastic leukemia(62;0.158)	Missense_Mutation	662						
TDRD9	122402	broad.mit.edu	GRCh37	14	104508512	104508512	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-02-2470-01	TCGA-02-2470-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409874.4:c.3962A>C	p.Gln1321Pro	p.Q1321P	ENST00000409874	NM_153046.2	1321	cAg/cCg	0			1			C	Q/P	uc001yom.3	protein_coding	YES	CCDS9987.2			3962/4149									ovary(2)|central_nervous_system(1)	3	c.(3961-3963)CAG>CCG				tudor domain containing 9				ENSP00000387303		34/36									COSM2149096,COSM2149095	34/36	.		ENST00000409874	Transcript			cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	ENSG00000156414	g.chr14:104508512A>C	20122			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=TDRD9_HUMAN&rb=1215&re=1382&var=Q1321P	NA	getma.org/?cm=var&var=hg19,14,104508512,A,C&fts=all	Q1321P	--	--	1																																		TDRD9_uc001yon.3_Missense_Mutation_p.Q868P	1,1	1		benign(0.397)	p.Q1321P	NM_153046	NP_694591		deleterious(0.01)	1,1	TDRD9_HUMAN	TDRD9	HGNC	Q8NDG6	TDRD9_HUMAN					34	3992	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)	UPI0001642306	1321					SNV	TDRD9,missense_variant,p.Gln1321Pro,ENST00000409874,NM_153046.2;TDRD9,missense_variant,p.Gln1130Pro,ENST00000339063,;TDRD9,missense_variant,p.Gln857Pro,ENST00000557332,;	uc001yom.3	c.3962A>C	4010/4782	3	3			c.3962A>C						14	SNP	c.(3961-3963)CAG>CCG	64	64			ovary(2)|central_nervous_system(1)	3	Broad	tudor domain containing 9			104508512		0.478	ENSG00000156414	15492	g.chr14:104508512A>C	cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding							45.985523	KEEP	13	9	-1	29	27	13	9	-1	49.958833	29	27	0.256757	1	0	0	0	0	1	0	0	0	--	--		0	C			TDRD9_uc001yon.3_Missense_Mutation_p.Q868P	5	GBM-02-2470-TP	p.Q1321P	A	ATTGCCCGTCAGAAGCTTTTA	NM_153046	NP_694591	104508512	Q8NDG6	TDRD9_HUMAN	0			34	3992	+	C	C		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)	Missense_Mutation	1321						
TDRD9	0	broad.mit.edu	GRCh37	14	104488645	104488645	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01	TCGA-32-1977-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409874.4:c.2584G>A	p.Val862Ile	p.V862I	ENST00000409874	NM_153046.2	862	Gtc/Atc	0		A:0.0008	1	A:0		A	V/I	uc001yom.3	protein_coding	YES	CCDS9987.2			2584/4149									ovary(2)|central_nervous_system(1)	3	c.(2584-2586)GTC>ATC			hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF80	tudor domain containing 9		A:0		ENSP00000387303	A:0	24/36	3.29E-05	0.000198				3.05E-05			rs201957950,COSM3401134,COSM3401133	24/36	.		ENST00000409874	Transcript		A:0.0002	cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	ENSG00000156414	g.chr14:104488645G>A	20122			MODERATE		0.6	neutral	getma.org/?cm=msa&ty=f&p=TDRD9_HUMAN&rb=666&re=865&var=V862I	NA	getma.org/?cm=var&var=hg19,14,104488645,G,A&fts=all	V862I	--	--	1																																		TDRD9_uc001yon.3_Missense_Mutation_p.V600I	0,1,1	1		benign(0.002)	p.V862I	NM_153046	NP_694591	A:0	tolerated(0.59)	0,1,1	TDRD9_HUMAN	TDRD9	HGNC	Q8NDG6	TDRD9_HUMAN					24	2614	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)	UPI0001642306	862					SNV	TDRD9,missense_variant,p.Val862Ile,ENST00000409874,NM_153046.2;TDRD9,missense_variant,p.Val862Ile,ENST00000339063,;TDRD9,missense_variant,p.Val589Ile,ENST00000557332,;	uc001yom.3	c.2584G>A	2632/4782	2	2			c.2584G>A						14	SNP	c.(2584-2586)GTC>ATC	41	41			ovary(2)|central_nervous_system(1)	3	Broad	tudor domain containing 9			104488645		0.448	ENSG00000156414	15492	g.chr14:104488645G>A	cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding							28.139462	KEEP	9	6	-1	25	40	9	6	-1	33.176386	25	40	0.206349	1	0	0	0	0	1	0	0	0	--	--		0	A			TDRD9_uc001yon.3_Missense_Mutation_p.V600I	229	GBM-32-1977-TP	p.V862I	G	AGGCATGAACGTCTCAAAGCT	NM_153046	NP_694591	104488645	Q8NDG6	TDRD9_HUMAN	0			24	2614	+	A	A		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)	Missense_Mutation	862						
TDRKH	0	broad.mit.edu	GRCh37	1	151755433	151755433	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-4209-01	TCGA-32-4209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368822.1:c.66G>A	p.Gly22=	p.G22=	ENST00000368822		22	ggG/ggA	0			1			T	G	uc009wnb.1	protein_coding	YES	CCDS41394.1			66/1686								p.G22V(1)	ovary(1)|pancreas(1)	2	c.(64-66)GGG>GGA			Transmembrane_helices:TMhelix,hmmpanther:PTHR22948:SF13,hmmpanther:PTHR22948	tudor and KH domain containing isoform a				ENSP00000357812		14-Feb									COSM3747789	14-Feb	.		ENST00000368822	Transcript					RNA binding	ENSG00000182134	g.chr1:151755433C>T	11713			LOW								--	--	1																																		TDRKH_uc001eyy.2_5'UTR|TDRKH_uc001ezb.3_Silent_p.G22G|TDRKH_uc001ezc.3_Silent_p.G22G|TDRKH_uc001eza.3_Silent_p.G22G|TDRKH_uc001ezd.3_Silent_p.G22G|TDRKH_uc010pdn.1_5'UTR	1	1			p.G22G	NM_006862	NP_006853			1	TDRKH_HUMAN	TDRKH	HGNC	Q9Y2W6	TDRKH_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		Q9NYV3_HUMAN,E9PKN8_HUMAN,B4DJ68_HUMAN		2	248	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		UPI0000204267	22					SNV	TDRKH,synonymous_variant,p.=,ENST00000368822,;TDRKH,synonymous_variant,p.=,ENST00000368824,NM_001083965.1;TDRKH,synonymous_variant,p.=,ENST00000458431,NM_001083963.1;TDRKH,synonymous_variant,p.=,ENST00000368823,;TDRKH,synonymous_variant,p.=,ENST00000368825,NM_001083964.1;TDRKH,synonymous_variant,p.=,ENST00000368827,NM_006862.3;TDRKH,synonymous_variant,p.=,ENST00000526378,;TDRKH,5_prime_UTR_variant,,ENST00000440583,;TDRKH,non_coding_transcript_exon_variant,,ENST00000484421,;TDRKH,synonymous_variant,p.=,ENST00000525790,;TDRKH,synonymous_variant,p.=,ENST00000526413,;TDRKH,synonymous_variant,p.=,ENST00000530202,;TDRKH,non_coding_transcript_exon_variant,,ENST00000486986,;TDRKH,non_coding_transcript_exon_variant,,ENST00000494725,;TDRKH,non_coding_transcript_exon_variant,,ENST00000463553,;	uc009wnb.1	c.66G>A	700/3093	2	2			c.66G>A						1	SNP	c.(64-66)GGG>GGA	42	42		p.G22V(1)	ovary(1)|pancreas(1)	2	Broad	tudor and KH domain containing isoform a			151755433		0.463	ENSG00000182134	15493	g.chr1:151755433C>T			RNA binding							-84.388645	KEEP	16	17	-1	353	403	16	17	-1	52.807241	353	403	0.043831	1	0	0	0	0	0	0	1	0	--	--		0	T			TDRKH_uc001eyy.2_5'UTR|TDRKH_uc001ezb.3_Silent_p.G22G|TDRKH_uc001ezc.3_Silent_p.G22G|TDRKH_uc001eza.3_Silent_p.G22G|TDRKH_uc001ezd.3_Silent_p.G22G|TDRKH_uc010pdn.1_5'UTR	244	GBM-32-4209-TP	p.G22G	C	TGGCTGGGATCCCAAGGCCCA	NM_006862	NP_006853	151755433	Q9Y2W6	TDRKH_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.181)		2	248	-	T	T	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		Silent	22						
TEAD1	0	broad.mit.edu	GRCh37	11	12902599	12902599	+	splice_donor_variant	Splice_Site	SNP	G	G	C			TCGA-14-4157-01	TCGA-14-4157-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000527636.1:c.512+1G>C		p.X171_splice	ENST00000527636				0			1			C		uc001mkj.3	protein_coding		CCDS7810.2			512/1281										0	c.e7+1				TEA domain family member 1				ENSP00000435233											COSM3397554,COSM3397553		.		ENST00000527636	Transcript	1		hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	ENSG00000187079	g.chr11:12902599G>C	11714			HIGH	12-Jul							--	--	1																																		TEAD1_uc001mkk.3_Splice_Site_p.D75_splice|TEAD1_uc009ygl.2_Splice_Site_p.D50_splice	1,1				p.D156_splice	NM_021961	NP_068780			1,1		TEAD1	HGNC	P28347	TEAD1_HUMAN		Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)	H0YE88_HUMAN,H0YCZ6_HUMAN		7	1132	+			UPI000013D412						SNV	TEAD1,splice_donor_variant,,ENST00000361905,NM_021961.5;TEAD1,splice_donor_variant,,ENST00000526600,;TEAD1,splice_donor_variant,,ENST00000361985,;TEAD1,splice_donor_variant,,ENST00000334310,;TEAD1,splice_donor_variant,,ENST00000527575,;TEAD1,splice_donor_variant,,ENST00000527636,;	uc001mkj.3	c.467_splice	-/2544	5	3			c.467_splice						11	SNP	c.e7+1	12	12				0	Broad	TEA domain family member 1			12902599		0.547	ENSG00000187079	15494	g.chr11:12902599G>C	hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity							-41.45664	KEEP	2	5	-1	120	127	2	5	-1	13.677745	120	127	0.026906	1	0	0	0	0	0	0	0	1	--	--		0	C			TEAD1_uc001mkk.3_Splice_Site_p.D75_splice|TEAD1_uc009ygl.2_Splice_Site_p.D50_splice	152	GBM-14-4157-TP	p.D156_splice	G	CCTCACAAGAGTAAGTCTGAG	NM_021961	NP_068780	12902599	P28347	TEAD1_HUMAN	0		Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)	7	1132	+	C	C			Splice_Site							
TEAD2	8463	broad.mit.edu	GRCh37	19	49852054	49852054	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01	TCGA-06-0195-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000598810.1:c.653C>T	p.Ser218Leu	p.S218L	ENST00000598810	NM_001256661.1	218	tCg/tTg	0	A:0.0002		1			A	S/L	uc002pnj.2	protein_coding		CCDS12761.1			641/1344									central_nervous_system(2)|ovary(1)	3	c.(640-642)TCG>TTG			Low_complexity_(Seg):seg,hmmpanther:PTHR11834:SF3,hmmpanther:PTHR11834,Pfam_domain:PF01285,PIRSF_domain:PIRSF002603	TEA domain family member 2			A:0.0001	ENSP00000310701		12-Aug	8.27E-05	0.000117		0.000246		0.000116			rs201482323,COSM2752432	12-Aug	.		ENST00000311227	Transcript			hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	ENSG00000074219	g.chr19:49852054G>A	11715			MODERATE		0.405	neutral	getma.org/?cm=msa&ty=f&p=TEAD2_HUMAN&rb=11&re=439&var=S214L	NA	getma.org/?cm=var&var=hg19,19,49852054,G,A&fts=all	S214L	--	--	1																																		TEAD2_uc002png.2_Missense_Mutation_p.S217L|TEAD2_uc002pnh.2_Missense_Mutation_p.S218L|TEAD2_uc002pni.2_Missense_Mutation_p.S217L|TEAD2_uc010yao.1_Missense_Mutation_p.S86L|TEAD2_uc010emw.2_Missense_Mutation_p.S217L	0,1			benign(0.004)	p.S214L	NM_003598	NP_003589		tolerated(0.16)	0,1	TEAD2_HUMAN	TEAD2	HGNC	Q15562	TEAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)	M0R290_HUMAN		8	732	-		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)	UPI0000136B7D	214			Transcriptional activation (Potential).|Pro-rich.		SNV	TEAD2,missense_variant,p.Ser217Leu,ENST00000377214,;TEAD2,missense_variant,p.Ser218Leu,ENST00000598810,NM_001256661.1;TEAD2,missense_variant,p.Ser217Leu,ENST00000601519,NM_001256658.1;TEAD2,missense_variant,p.Ser214Leu,ENST00000311227,NM_001256659.1,NM_003598.1;TEAD2,missense_variant,p.Ser218Leu,ENST00000593945,NM_001256660.1;TEAD2,missense_variant,p.Ser86Leu,ENST00000539846,NM_001256662.1;TEAD2,missense_variant,p.Ser83Leu,ENST00000596757,;TEAD2,non_coding_transcript_exon_variant,,ENST00000598397,;TEAD2,3_prime_UTR_variant,,ENST00000598823,;	uc002pnj.2	c.641C>T	732/2164	2	2			c.641C>T						19	SNP	c.(640-642)TCG>TTG	24	24			central_nervous_system(2)|ovary(1)	3	Broad	TEA domain family member 2			49852054		0.572	ENSG00000074219	15495	g.chr19:49852054G>A	hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity							16.113567	KEEP	2	6	-1	15	27	2	6	-1	18.441984	15	27	0.21875	1	0	0	0	0	1	0	0	0	--	--		0	A			TEAD2_uc002png.2_Missense_Mutation_p.S217L|TEAD2_uc002pnh.2_Missense_Mutation_p.S218L|TEAD2_uc002pni.2_Missense_Mutation_p.S217L|TEAD2_uc010yao.1_Missense_Mutation_p.S86L|TEAD2_uc010emw.2_Missense_Mutation_p.S217L	45	GBM-06-0195-TP	p.S214L	G	GGCTGGGGGCGATGGGGTAGG	NM_003598	NP_003589	49852054	Q15562	TEAD2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)	8	732	-	A	A		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)	Missense_Mutation	214			Transcriptional activation (Potential).|Pro-rich.			
TEAD4	0	broad.mit.edu	GRCh37	12	3121377	3121377	+	synonymous_variant	Silent	SNP	C	C	T	rs112112805		TCGA-76-6192-01	TCGA-76-6192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359864.2:c.333C>T	p.Arg111=	p.R111=	ENST00000359864	NM_003213.3	111	cgC/cgT	0	T:0.0002		1			T	R	uc010sej.1	protein_coding	YES	CCDS31729.1			333/1305										0	c.(328-330)CGC>CGT			hmmpanther:PTHR11834,hmmpanther:PTHR11834:SF2,Pfam_domain:PF01285,PIRSF_domain:PIRSF002603,PIRSF_domain:PIRSF500722	TEA domain family member 4 isoform 1			T:0	ENSP00000352926		13-May	0.000132	0.000195		0.00127		1.51E-05		0.000123	rs112112805,COSM2205223	13-May	common_variant		ENST00000359864	Transcript			hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	ENSG00000197905	g.chr12:3121377C>T	11717			LOW								--	--	1																																		TEAD4_uc010sek.1_Silent_p.R110R|TEAD4_uc001qln.2_5'UTR	0,1	1			p.R110R	NM_003213	NP_003204			0,1		TEAD4	HGNC	Q15561	TEAD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)		Q53GI4_HUMAN,H0YGS2_HUMAN,H0YFK0_HUMAN,H0YFF9_HUMAN,D3DUQ6_HUMAN		5	607	+	Ovarian(42;0.211)		UPI000013FEB3	111					SNV	TEAD4,synonymous_variant,p.=,ENST00000359864,NM_003213.3;TEAD4,synonymous_variant,p.=,ENST00000358409,NM_201441.2;TEAD4,synonymous_variant,p.=,ENST00000543035,;TEAD4,synonymous_variant,p.=,ENST00000544666,;TEAD4,5_prime_UTR_variant,,ENST00000397122,NM_201443.2;TEAD4,stop_gained,p.Arg90Ter,ENST00000443986,;	uc010sej.1	c.330C>T	523/1690	2	2			c.330C>T						12	SNP	c.(328-330)CGC>CGT	41	41				0	Broad	TEA domain family member 4 isoform 1			3121377		0.597	ENSG00000197905	15497	g.chr12:3121377C>T	hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity							6.384608	KEEP	2	2	-1	15	14	2	2	-1	9.36392	15	14	0.153846	1	0	0	0	0	0	0	1	0	--	--		0	T			TEAD4_uc010sek.1_Silent_p.R110R|TEAD4_uc001qln.2_5'UTR	275	GBM-76-6192-TP	p.R110R	C	GCAAAGCTCGCGAGATCCAGG	NM_003213	NP_003204	3121377	Q15561	TEAD4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)		5	607	+	T	T	Ovarian(42;0.211)		Silent	111						
TEC	7006	broad.mit.edu	GRCh37	4	48140944	48140944	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0130-01	TCGA-06-0130-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381501.3:c.1631G>A	p.Ser544Asn	p.S544N	ENST00000381501	NM_003215.2	544	aGc/aAc	0			1			T	S/N	uc003gxz.2	protein_coding	YES	CCDS3481.1			1631/1896									lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)	9	c.(1630-1632)AGC>AAC			Gene3D:1.10.510.10,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF219,SMART_domains:SM00219,Superfamily_domains:SSF56112	tec protein tyrosine kinase				ENSP00000370912		16/18									COSM2149549	16/18	.		ENST00000381501	Transcript			intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	ENSG00000135605	g.chr4:48140944C>T	11719			MODERATE		1.235	low	getma.org/?cm=msa&ty=f&p=TEC_HUMAN&rb=370&re=619&var=S544N	getma.org/pdb.php?prot=TEC_HUMAN&from=370&to=619&var=S544N	getma.org/?cm=var&var=hg19,4,48140944,C,T&fts=all	S544N	--	--	1																																			1	1		possibly_damaging(0.502)	p.S544N	NM_003215	NP_003206		deleterious(0.01)	1	TEC_HUMAN	TEC	HGNC	P42680	TEC_HUMAN			Q14219_HUMAN		16	1722	-			UPI000013CFAE	544			Protein kinase.		SNV	TEC,missense_variant,p.Ser544Asn,ENST00000381501,NM_003215.2;TXK,upstream_gene_variant,,ENST00000264316,NM_003328.2;TXK,upstream_gene_variant,,ENST00000510457,;TEC,downstream_gene_variant,,ENST00000511471,;TEC,3_prime_UTR_variant,,ENST00000505452,;TEC,3_prime_UTR_variant,,ENST00000515146,;TEC,non_coding_transcript_exon_variant,,ENST00000511150,;	uc003gxz.2	c.1631G>A	1789/3687	1	1			c.1631G>A						4	SNP	c.(1630-1632)AGC>AAC	13	13			lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)	9	Broad	tec protein tyrosine kinase			48140944		0.438	ENSG00000135605	15498	g.chr4:48140944C>T	intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			498			498	77.85035	KEEP	12	18	-1	37	39	12	18	-1	82.206782	37	39	0.28	1	0	0	0	0	1	0	0	0	--	--		0	T				16	GBM-06-0130-TP	p.S544N	C	ATCTGATTTGCTGCTGAAGCG	NM_003215	NP_003206	48140944	P42680	TEC_HUMAN	0			16	1722	-	T	T			Missense_Mutation	544			Protein kinase.			
TECPR1	0	broad.mit.edu	GRCh37	7	97862242	97862242	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5960-01	TCGA-19-5960-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000447648.2:c.1715C>T	p.Pro572Leu	p.P572L	ENST00000447648	NM_015395.2	572	cCg/cTg	0	A:0		1			A	P/L	uc003upg.2	protein_coding	YES	CCDS47648.1			1715/3498									pancreas(1)	1	c.(1714-1716)CCG>CTG			hmmpanther:PTHR23250,hmmpanther:PTHR23250:SF1	tectonin beta-propeller repeat containing 1			A:0.0001	ENSP00000404923		26-Dec	4.95E-05					7.65E-05		6.07E-05	rs375364856,COSM3412530	26-Dec	.		ENST00000447648	Transcript				integral to membrane	protein binding	ENSG00000205356	g.chr7:97862242G>A	22214			MODERATE		1.75	low	getma.org/?cm=msa&ty=f&p=TCPR1_HUMAN&rb=377&re=576&var=P572L	NA	getma.org/?cm=var&var=hg19,7,97862242,G,A&fts=all	P572L	--	--	1																																		TECPR1_uc003uph.1_Missense_Mutation_p.P502L	0,1	1		probably_damaging(0.98)	p.P572L	NM_015395	NP_056210		deleterious(0.02)	0,1	TCPR1_HUMAN	TECPR1	HGNC	Q7Z6L1	TCPR1_HUMAN			C9JUV4_HUMAN		12	1920	-			UPI0000161940	572					SNV	TECPR1,missense_variant,p.Pro572Leu,ENST00000447648,NM_015395.2;TECPR1,missense_variant,p.Pro573Leu,ENST00000379795,;TECPR1,missense_variant,p.Pro502Leu,ENST00000542604,;TECPR1,upstream_gene_variant,,ENST00000479975,;TECPR1,downstream_gene_variant,,ENST00000471397,;TECPR1,upstream_gene_variant,,ENST00000479911,;TECPR1,upstream_gene_variant,,ENST00000476659,;TECPR1,non_coding_transcript_exon_variant,,ENST00000490842,;TECPR1,upstream_gene_variant,,ENST00000483740,;	uc003upg.2	c.1715C>T	2015/6564	2	2			c.1715C>T						7	SNP	c.(1714-1716)CCG>CTG	22	22			pancreas(1)	1	Broad	tectonin beta-propeller repeat containing 1			97862242		0.652	ENSG00000205356	15499	g.chr7:97862242G>A		integral to membrane	protein binding							73.622232	KEEP	16	16	-1	31	39	16	16	-1	76.335919	31	39	0.309524	1	0	0	0	0	1	0	0	0	--	--		0	A			TECPR1_uc003uph.1_Missense_Mutation_p.P502L	178	GBM-19-5960-TP	p.P572L	G	GGTCTGGGCCGGCGTGATGGA	NM_015395	NP_056210	97862242	Q7Z6L1	TCPR1_HUMAN	0			12	1920	-	A	A			Missense_Mutation	572						
TECPR1	25851		GRCh37	7	97858368	97858368	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000447648.2:c.2393G>A	p.Gly798Glu	p.G798E	ENST00000447648	NM_015395.2	798	gGa/gAa	0																																																																																																																																																																																																																																												
TECTA	0	broad.mit.edu	GRCh37	11	120998873	120998873	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0789-01	TCGA-14-0789-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264037.2:c.2187C>T	p.Tyr729=	p.Y729=	ENST00000264037	NM_005422.2	729	taC/taT	0		T:0	1	T:0		T	Y	uc010rzo.1	protein_coding		CCDS8434.1			2187/6468									breast(6)|ovary(2)|skin(2)	10	c.(2185-2187)TAC>TAT			PROSITE_profiles:PS51233,hmmpanther:PTHR11339,Pfam_domain:PF00094,SMART_domains:SM00216	tectorin alpha precursor		T:0		ENSP00000264037	T:0	23-Aug	0.000189			0.00267					rs529258973,COSM300202	23-Aug	common_variant		ENST00000264037	Transcript	1	T:0.0002	cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		ENSG00000109927	g.chr11:120998873C>T	11720			LOW								--	--	1																																			0,1				p.Y729Y	NM_005422	NP_005413	T:0.001		0,1	TECTA_HUMAN	TECTA	HGNC	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)			8	2187	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	UPI000045659D	729			VWFD 2.		SNV	TECTA,synonymous_variant,p.=,ENST00000392793,;TECTA,synonymous_variant,p.=,ENST00000264037,NM_005422.2;	uc010rzo.1	c.2187C>T	2187/6468	2	2			c.2187C>T						11	SNP	c.(2185-2187)TAC>TAT	34	34			breast(6)|ovary(2)|skin(2)	10	Broad	tectorin alpha precursor			120998873		0.622	ENSG00000109927	15503	g.chr11:120998873C>T	cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix								122.183036	KEEP	31	26	-1	83	106	31	26	-1	137.651646	83	106	0.22807	1	0	0	0	0	0	0	1	0	--	--		0	T				136	GBM-14-0789-TP	p.Y729Y	C	GCGCCTCCTACGCCTTCCCCT	NM_005422	NP_005413	120998873	O75443	TECTA_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	8	2187	+	T	T	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	Silent	729			VWFD 2.			
TECTA	0	broad.mit.edu	GRCh37	11	121028677	121028677	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01	TCGA-27-2526-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264037.2:c.4433G>A	p.Gly1478Asp	p.G1478D	ENST00000264037	NM_005422.2	1478	gGc/gAc	0			1			A	G/D	uc010rzo.1	protein_coding		CCDS8434.1			4433/6468									breast(6)|ovary(2)|skin(2)	10	c.(4432-4434)GGC>GAC			hmmpanther:PTHR11339,Pfam_domain:PF12714,SMART_domains:SM00215,SMART_domains:SM00216	tectorin alpha precursor				ENSP00000264037		13/23									COSM3397481	13/23	.		ENST00000264037	Transcript	1		cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		ENSG00000109927	g.chr11:121028677G>A	11720			MODERATE		1.85	low	getma.org/?cm=msa&ty=f&p=TECTA_HUMAN&rb=1426&re=1480&var=G1478D	NA	getma.org/?cm=var&var=hg19,11,121028677,G,A&fts=all	G1478D	--	--	1																																			1			probably_damaging(0.989)	p.G1478D	NM_005422	NP_005413		deleterious(0)	1	TECTA_HUMAN	TECTA	HGNC	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)			13	4433	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	UPI000045659D	1478					SNV	TECTA,missense_variant,p.Gly1478Asp,ENST00000392793,;TECTA,missense_variant,p.Gly1478Asp,ENST00000264037,NM_005422.2;	uc010rzo.1	c.4433G>A	4433/6468	2	2			c.4433G>A						11	SNP	c.(4432-4434)GGC>GAC	43	43			breast(6)|ovary(2)|skin(2)	10	Broad	tectorin alpha precursor			121028677		0.682	ENSG00000109927	15503	g.chr11:121028677G>A	cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix								124.29226	KEEP	23	24	-1	24	31	23	24	-1	124.30026	24	31	0.488372	1	0	0	0	0	1	0	0	0	--	--		0	A				203	GBM-27-2526-TP	p.G1478D	G	GGGGTGCGCGGCTGCTTCAGC	NM_005422	NP_005413	121028677	O75443	TECTA_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	13	4433	+	A	A	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	Missense_Mutation	1478						
TECTA	0	broad.mit.edu	GRCh37	11	120983846	120983846	+	synonymous_variant	Silent	SNP	C	C	T	rs148364865	byFrequency	TCGA-28-5208-01	TCGA-28-5208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264037.2:c.552C>T	p.Tyr184=	p.Y184=	ENST00000264037	NM_005422.2	184	taC/taT	0	T:0.0014	T:0.0008	1	T:0		T	Y	uc010rzo.1	protein_coding		CCDS8434.1			552/6468									breast(6)|ovary(2)|skin(2)	10	c.(550-552)TAC>TAT			PROSITE_profiles:PS51220,hmmpanther:PTHR11339,Pfam_domain:PF06119,SMART_domains:SM00539	tectorin alpha precursor		T:0	T:0	ENSP00000264037	T:0	23-Apr	0.000124	0.00077	8.64E-05			3.01E-05		0.000242	rs148364865,COSM369639	23-Apr	common_variant		ENST00000264037	Transcript	1	T:0.0002	cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		ENSG00000109927	g.chr11:120983846C>T	11720			LOW								--	--	1																																OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		0,1				p.Y184Y	NM_005422	NP_005413	T:0		0,1	TECTA_HUMAN	TECTA	HGNC	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)			4	552	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	UPI000045659D	184			NIDO.		SNV	TECTA,synonymous_variant,p.=,ENST00000392793,;TECTA,synonymous_variant,p.=,ENST00000264037,NM_005422.2;	uc010rzo.1	c.552C>T	552/6468	2	2			c.552C>T						11	SNP	c.(550-552)TAC>TAT	28	28			breast(6)|ovary(2)|skin(2)	10	Broad	tectorin alpha precursor			120983846		0.567	ENSG00000109927	15503	g.chr11:120983846C>T	cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix								143.305324	KEEP	33	34	-1	45	37	33	34	-1	143.638761	45	37	0.440367	1	0	0	0	0	0	0	1	0	--	--		0	T	OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		217	GBM-28-5208-TP	p.Y184Y	C	TCAATTATTACGAAATCAACT	NM_005422	NP_005413	120983846	O75443	TECTA_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	4	552	+	T	T	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	Silent	184			NIDO.			
TECTA	0	broad.mit.edu	GRCh37	11	121037459	121037459	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2638-01	TCGA-32-2638-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264037.2:c.5556C>T	p.Asn1852=	p.N1852=	ENST00000264037	NM_005422.2	1852	aaC/aaT	0			1			T	N	uc010rzo.1	protein_coding		CCDS8434.1			5556/6468									breast(6)|ovary(2)|skin(2)	10	c.(5554-5556)AAC>AAT			PROSITE_profiles:PS51034,hmmpanther:PTHR11339,Pfam_domain:PF00100,SMART_domains:SM00241	tectorin alpha precursor				ENSP00000264037		17/23									COSM3397483	17/23	.		ENST00000264037	Transcript	1		cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		ENSG00000109927	g.chr11:121037459C>T	11720			LOW								--	--	1																																			1				p.N1852N	NM_005422	NP_005413			1	TECTA_HUMAN	TECTA	HGNC	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)			17	5556	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	UPI000045659D	1852			ZP.		SNV	TECTA,synonymous_variant,p.=,ENST00000392793,;TECTA,synonymous_variant,p.=,ENST00000264037,NM_005422.2;	uc010rzo.1	c.5556C>T	5556/6468	2	2			c.5556C>T						11	SNP	c.(5554-5556)AAC>AAT	46	46			breast(6)|ovary(2)|skin(2)	10	Broad	tectorin alpha precursor			121037459		0.498	ENSG00000109927	15503	g.chr11:121037459C>T	cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix								42.012739	KEEP	6	13	-1	27	26	6	13	-1	45.255129	27	26	0.268657	1	0	0	0	0	0	0	1	0	--	--		0	T				242	GBM-32-2638-TP	p.N1852N	C	AGATCAACAACACCAAAGGGA	NM_005422	NP_005413	121037459	O75443	TECTA_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	17	5556	+	T	T	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	Silent	1852			ZP.			
TECTA	0	broad.mit.edu	GRCh37	11	121000704	121000704	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs139132568		TCGA-32-4719-01	TCGA-32-4719-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264037.2:c.2725C>T	p.Arg909Cys	p.R909C	ENST00000264037	NM_005422.2	909	Cgc/Tgc	0	T:0		1			T	R/C	uc010rzo.1	protein_coding		CCDS8434.1			2725/6468									breast(6)|ovary(2)|skin(2)	10	c.(2725-2727)CGC>TGC			PROSITE_profiles:PS51233,hmmpanther:PTHR11339,Pfam_domain:PF08742,SMART_domains:SM00832	tectorin alpha precursor			T:0.0005	ENSP00000264037		23-Sep	0.000148					0.000242		6.80E-05	rs139132568,COSM2157444	23-Sep	.		ENST00000264037	Transcript	1		cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		ENSG00000109927	g.chr11:121000704C>T	11720			MODERATE		2.285	medium	getma.org/?cm=msa&ty=f&p=TECTA_HUMAN&rb=905&re=981&var=R909C	NA	getma.org/?cm=var&var=hg19,11,121000704,C,T&fts=all	R909C	--	--	1																																			0,1			possibly_damaging(0.892)	p.R909C	NM_005422	NP_005413		tolerated(0.06)	0,1	TECTA_HUMAN	TECTA	HGNC	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)			9	2725	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	UPI000045659D	909			VWFD 2.		SNV	TECTA,missense_variant,p.Arg909Cys,ENST00000392793,;TECTA,missense_variant,p.Arg909Cys,ENST00000264037,NM_005422.2;	uc010rzo.1	c.2725C>T	2725/6468	1	1			c.2725C>T						11	SNP	c.(2725-2727)CGC>TGC	5	5			breast(6)|ovary(2)|skin(2)	10	Broad	tectorin alpha precursor			121000704		0.562	ENSG00000109927	15503	g.chr11:121000704C>T	cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix								70.5415	KEEP	13	14	-1	27	47	13	14	-1	74.068394	27	47	0.287356	1	0	0	0	0	1	0	0	0	--	--		0	T				248	GBM-32-4719-TP	p.R909C	C	TTATCGAAGCCGCTCCAGGTG	NM_005422	NP_005413	121000704	O75443	TECTA_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	9	2725	+	T	T	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	Missense_Mutation	909			VWFD 2.			
TECTA	7007		GRCh37	11	120998727	120998727	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000392793.1:c.2041G>A	p.Gly681Arg	p.G681R	ENST00000392793		681	Ggg/Agg	0																																																																																																																																																																																																																																												
TECTA	7007		GRCh37	11	120998519	120998519	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000392793.1:c.1833C>T	p.Pro611=	p.P611=	ENST00000392793		611	ccC/ccT	0																																																																																																																																																																																																																																												
TECTA	7007		GRCh37	11	121031074	121031074	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000392793.1:c.4920G>A	p.Pro1640=	p.P1640=	ENST00000392793		1640	ccG/ccA	0																																																																																																																																																																																																																																												
TEK	7010	broad.mit.edu	GRCh37	9	27158007	27158007	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0126-01	TCGA-06-0126-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380036.4:c.231T>A	p.Asp77Glu	p.D77E	ENST00000380036	NM_000459.3	77	gaT/gaA	0			1			A	D/E	uc003zqi.3	protein_coding	YES	CCDS6519.1			231/3375								p.D77E(1)	ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12	c.(229-231)GAT>GAA			hmmpanther:PTHR24416:SF125,hmmpanther:PTHR24416,Gene3D:2.60.40.10,Pfam_domain:PF10430	TEK tyrosine kinase, endothelial precursor				ENSP00000369375		23-Feb									COSM43021,COSM2149400	23-Feb	.		ENST00000380036	Transcript	1		angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	ENSG00000120156	g.chr9:27158007T>A	11724			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=TIE2_HUMAN&rb=23&re=118&var=D77E	getma.org/pdb.php?prot=TIE2_HUMAN&from=23&to=118&var=D77E	getma.org/?cm=var&var=hg19,9,27158007,T,A&fts=all	D77E	--	--	1																																		TEK_uc010mjc.1_Intron|TEK_uc011lnn.1_Missense_Mutation_p.D77E|TEK_uc011lno.1_Missense_Mutation_p.D77E|TEK_uc011lnp.1_Intron|TEK_uc003zqj.1_Missense_Mutation_p.D54E	1,1	1		possibly_damaging(0.75)	p.D77E	NM_000459	NP_000450		tolerated(0.07)	1,1	TIE2_HUMAN	TEK	HGNC	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)			2	673	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	UPI000021121E	77			Extracellular (Potential).|Ig-like C2-type 1.		SNV	TEK,missense_variant,p.Asp77Glu,ENST00000380036,NM_000459.3;TEK,missense_variant,p.Asp77Glu,ENST00000406359,;TEK,intron_variant,,ENST00000519097,;TEK,intron_variant,,ENST00000519080,;	uc003zqi.3	c.231T>A	673/4760	1	1			c.231T>A						9	SNP	c.(229-231)GAT>GAA	54	54		p.D77E(1)	ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12	Broad	TEK tyrosine kinase, endothelial precursor			27158007		0.493	ENSG00000120156	15507	g.chr9:27158007T>A	angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			493			493	123.340127	KEEP	24	15	-1	27	29	24	15	-1	124.016356	27	29	0.408602	1	0	0	0	0	1	0	0	0	--	--		0	A			TEK_uc010mjc.1_Intron|TEK_uc011lnn.1_Missense_Mutation_p.D77E|TEK_uc011lno.1_Missense_Mutation_p.D77E|TEK_uc011lnp.1_Intron|TEK_uc003zqj.1_Missense_Mutation_p.D54E	13	GBM-06-0126-TP	p.D77E	T	TTACTCAAGATGTGACCAGAG	NM_000459	NP_000450	27158007	Q02763	TIE2_HUMAN	0		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	2	673	+	A	A		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	Missense_Mutation	77			Extracellular (Potential).|Ig-like C2-type 1.			
TEK	7010	broad.mit.edu	GRCh37	9	27206739	27206739	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs147231791	by1000genomes	TCGA-06-0130-01	TCGA-06-0130-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380036.4:c.2524C>T	p.Arg842Cys	p.R842C	ENST00000380036	NM_000459.3	842	Cgc/Tgc	0		T:0	1	T:0		T	R/C	uc003zqi.3	protein_coding	YES	CCDS6519.1			2524/3375									ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12	c.(2524-2526)CGC>TGC			PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF125,hmmpanther:PTHR24416,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,Pfam_domain:PF07714,SMART_domains:SM00219,SMART_domains:SM00220,Superfamily_domains:SSF56112	TEK tyrosine kinase, endothelial precursor		T:0.001		ENSP00000369375	T:0	15/23	1.65E-05			0.000116		1.50E-05			rs147231791,COSM3413574,COSM3413573	15/23	.		ENST00000380036	Transcript	1	T:0.0002	angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	ENSG00000120156	g.chr9:27206739C>T	11724			MODERATE		1.645	low	getma.org/?cm=msa&ty=f&p=TIE2_HUMAN&rb=824&re=1092&var=R842C	getma.org/pdb.php?prot=TIE2_HUMAN&from=824&to=1092&var=R842C	getma.org/?cm=var&var=hg19,9,27206739,C,T&fts=all	R842C	--	--	1																																		TEK_uc011lno.1_Missense_Mutation_p.R799C|TEK_uc011lnp.1_Missense_Mutation_p.R694C|TEK_uc003zqj.1_Missense_Mutation_p.R776C	0,1,1	1		probably_damaging(0.993)	p.R842C	NM_000459	NP_000450	T:0	deleterious(0.01)	0,1,1	TIE2_HUMAN	TEK	HGNC	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)			15	2966	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	UPI000021121E	842			Protein kinase.|Cytoplasmic (Potential).		SNV	TEK,missense_variant,p.Arg842Cys,ENST00000380036,NM_000459.3;TEK,missense_variant,p.Arg799Cys,ENST00000406359,;TEK,missense_variant,p.Arg694Cys,ENST00000519097,;TEK,downstream_gene_variant,,ENST00000519080,;RP11-179D22.1,upstream_gene_variant,,ENST00000422804,;	uc003zqi.3	c.2524C>T	2966/4760	2	2			c.2524C>T						9	SNP	c.(2524-2526)CGC>TGC	32	32			ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12	Broad	TEK tyrosine kinase, endothelial precursor			27206739		0.453	ENSG00000120156	15507	g.chr9:27206739C>T	angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			493			493	1.267048	KEEP	1	4	-1	21	29	1	4	-1	9.209635	21	29	0.086957	1	0	0	0	0	1	0	0	0	--	--		0	T			TEK_uc011lno.1_Missense_Mutation_p.R799C|TEK_uc011lnp.1_Missense_Mutation_p.R694C|TEK_uc003zqj.1_Missense_Mutation_p.R776C	16	GBM-06-0130-TP	p.R842C	C	TCTTAAGGCGCGCATCAAGAA	NM_000459	NP_000450	27206739	Q02763	TIE2_HUMAN	0		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	15	2966	+	T	T		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	Missense_Mutation	842			Protein kinase.|Cytoplasmic (Potential).			
TEK	7010	broad.mit.edu	GRCh37	9	27229172	27229172	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0184-01	TCGA-06-0184-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380036.4:c.3317C>T	p.Thr1106Met	p.T1106M	ENST00000380036	NM_000459.3	1106	aCg/aTg	0			1			T	T/M	uc003zqi.3	protein_coding	YES	CCDS6519.1			3317/3375								p.T1106M(1)	ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12	c.(3316-3318)ACG>ATG			hmmpanther:PTHR24416:SF125,hmmpanther:PTHR24416,Superfamily_domains:SSF56112	TEK tyrosine kinase, endothelial precursor				ENSP00000369375		23/23	8.24E-06					1.50E-05			rs751768682,COSM43022,COSM2150485	23/23	.		ENST00000380036	Transcript	1		angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	ENSG00000120156	g.chr9:27229172C>T	11724			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TIE2_HUMAN&rb=1093&re=1124&var=T1106M	getma.org/pdb.php?prot=TIE2_HUMAN&from=1093&to=1124&var=T1106M	getma.org/?cm=var&var=hg19,9,27229172,C,T&fts=all	T1106M	--	--	1																																		TEK_uc011lno.1_Missense_Mutation_p.T1063M|TEK_uc011lnp.1_Missense_Mutation_p.T958M	0,1,1	1		probably_damaging(0.911)	p.T1106M	NM_000459	NP_000450		deleterious(0)	0,1,1	TIE2_HUMAN	TEK	HGNC	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)			23	3759	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	UPI000021121E	1106			Cytoplasmic (Potential).		SNV	TEK,missense_variant,p.Thr1106Met,ENST00000380036,NM_000459.3;TEK,missense_variant,p.Thr1063Met,ENST00000406359,;TEK,missense_variant,p.Thr958Met,ENST00000519097,;	uc003zqi.3	c.3317C>T	3759/4760	1	1			c.3317C>T						9	SNP	c.(3316-3318)ACG>ATG	1	1		p.T1106M(1)	ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12	Broad	TEK tyrosine kinase, endothelial precursor			27229172		0.453	ENSG00000120156	15507	g.chr9:27229172C>T	angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			493			493	167.488998	KEEP	44	28	-1	86	119	44	28	-1	179.293831	86	119	0.266667	1	0	0	0	0	1	0	0	0	--	--		0	T			TEK_uc011lno.1_Missense_Mutation_p.T1063M|TEK_uc011lnp.1_Missense_Mutation_p.T958M	39	GBM-06-0184-TP	p.T1106M	C	GTGAATACCACGCTTTATGAG	NM_000459	NP_000450	27229172	Q02763	TIE2_HUMAN	0		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	23	3759	+	T	T		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	Missense_Mutation	1106			Cytoplasmic (Potential).			
TEK	0	broad.mit.edu	GRCh37	9	27217701	27217701	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380036.4:c.3007C>T	p.Arg1003Cys	p.R1003C	ENST00000380036	NM_000459.3	1003	Cgc/Tgc	0			1			T	R/C	uc003zqi.3	protein_coding	YES	CCDS6519.1			3007/3375									ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12	c.(3007-3009)CGC>TGC			PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF125,hmmpanther:PTHR24416,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00219,SMART_domains:SM00220,Superfamily_domains:SSF56112,Prints_domain:PR00109	TEK tyrosine kinase, endothelial precursor				ENSP00000369375		19/23	2.47E-05					4.50E-05			rs772600804,COSM2154292,COSM2154291	19/23	.		ENST00000380036	Transcript	1		angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	ENSG00000120156	g.chr9:27217701C>T	11724			MODERATE		2.485	medium	getma.org/?cm=msa&ty=f&p=TIE2_HUMAN&rb=824&re=1092&var=R1003C	getma.org/pdb.php?prot=TIE2_HUMAN&from=824&to=1092&var=R1003C	getma.org/?cm=var&var=hg19,9,27217701,C,T&fts=all	R1003C	--	--	1																																		TEK_uc011lno.1_Missense_Mutation_p.R960C|TEK_uc011lnp.1_Missense_Mutation_p.R855C	0,1,1	1		probably_damaging(1)	p.R1003C	NM_000459	NP_000450		deleterious(0)	0,1,1	TIE2_HUMAN	TEK	HGNC	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)			19	3449	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	UPI000021121E	1003			Protein kinase.|Cytoplasmic (Potential).		SNV	TEK,missense_variant,p.Arg1003Cys,ENST00000380036,NM_000459.3;TEK,missense_variant,p.Arg960Cys,ENST00000406359,;TEK,missense_variant,p.Arg855Cys,ENST00000519097,;	uc003zqi.3	c.3007C>T	3449/4760	2	2			c.3007C>T						9	SNP	c.(3007-3009)CGC>TGC	24	24			ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12	Broad	TEK tyrosine kinase, endothelial precursor			27217701		0.483	ENSG00000120156	15507	g.chr9:27217701C>T	angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			493			493	53.873626	KEEP	12	13	-1	22	32	12	13	-1	56.017793	22	32	0.307692	1	0	0	0	0	1	0	0	0	--	--		0	T			TEK_uc011lno.1_Missense_Mutation_p.R960C|TEK_uc011lnp.1_Missense_Mutation_p.R855C	122	GBM-12-0692-TP	p.R1003C	C	GCTCCCAGTGCGCTGGATGGC	NM_000459	NP_000450	27217701	Q02763	TIE2_HUMAN	0		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	19	3449	+	T	T		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	Missense_Mutation	1003			Protein kinase.|Cytoplasmic (Potential).			
TEK	0	broad.mit.edu	GRCh37	9	27205000	27205000	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380036.4:c.2301G>A	p.Leu767=	p.L767=	ENST00000380036	NM_000459.3	767	ctG/ctA	0			1			A	L	uc003zqi.3	protein_coding	YES	CCDS6519.1			2301/3375									ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12	c.(2299-2301)CTG>CTA			Transmembrane_helices:TMhelix,hmmpanther:PTHR24416:SF125,hmmpanther:PTHR24416	TEK tyrosine kinase, endothelial precursor				ENSP00000369375		14/23									COSM3413572,COSM3413571	14/23	.		ENST00000380036	Transcript	1		angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	ENSG00000120156	g.chr9:27205000G>A	11724			LOW								--	--	1																																		TEK_uc011lno.1_Silent_p.L724L|TEK_uc011lnp.1_Silent_p.L620L|TEK_uc003zqj.1_Silent_p.L701L	1,1	1			p.L767L	NM_000459	NP_000450			1,1	TIE2_HUMAN	TEK	HGNC	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)			14	2743	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	UPI000021121E	767			Helical; (Potential).		SNV	TEK,synonymous_variant,p.=,ENST00000380036,NM_000459.3;TEK,synonymous_variant,p.=,ENST00000406359,;TEK,synonymous_variant,p.=,ENST00000519097,;TEK,downstream_gene_variant,,ENST00000519080,;	uc003zqi.3	c.2301G>A	2743/4760	2	2			c.2301G>A						9	SNP	c.(2299-2301)CTG>CTA	48	48			ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12	Broad	TEK tyrosine kinase, endothelial precursor			27205000		0.517	ENSG00000120156	15507	g.chr9:27205000G>A	angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			493			493	184.596854	KEEP	23	43	-1	55	86	23	43	-1	189.461471	55	86	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	A			TEK_uc011lno.1_Silent_p.L724L|TEK_uc011lnp.1_Silent_p.L620L|TEK_uc003zqj.1_Silent_p.L701L	129	GBM-12-5295-TP	p.L767L	G	TGGCCTTTCTGATCATATTGC	NM_000459	NP_000450	27205000	Q02763	TIE2_HUMAN	0		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	14	2743	+	A	A		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	Silent	767			Helical; (Potential).			
TEKT4	150483	broad.mit.edu	GRCh37	2	95537569	95537569	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0238-01	TCGA-06-0238-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295201.4:c.245G>A	p.Arg82His	p.R82H	ENST00000295201	NM_144705.2	82	cGc/cAc	0		A:0.0015	1	A:0		A	R/H	uc002stw.1	protein_coding	YES	CCDS2005.1			245/1308									ovary(1)|breast(1)|skin(1)	3	c.(244-246)CGC>CAC			Pfam_domain:PF03148,hmmpanther:PTHR19960,hmmpanther:PTHR19960:SF12,Low_complexity_(Seg):seg	tektin 4		A:0		ENSP00000295201	A:0	6-Jan	9.98E-05	0.00148							rs544727913,COSM1228907	6-Jan	common_variant		ENST00000295201	Transcript		A:0.0004	cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		ENSG00000163060	g.chr2:95537569G>A	31012			MODERATE		2.5	medium	getma.org/?cm=msa&ty=f&p=TEKT4_HUMAN&rb=44&re=427&var=R82H	NA	getma.org/?cm=var&var=hg19,2,95537569,G,A&fts=all	R82H	--	--	1																																		uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	0,1	1		benign(0.173)	p.R82H	NM_144705	NP_653306	A:0	deleterious(0.02)	0,1	TEKT4_HUMAN	TEKT4	HGNC	Q8WW24	TEKT4_HUMAN					1	338	+			UPI00000730A8	82					SNV	TEKT4,missense_variant,p.Arg82His,ENST00000295201,NM_144705.2;TEKT4,missense_variant,p.Arg82His,ENST00000427593,NM_001286559.1;AC097374.2,non_coding_transcript_exon_variant,,ENST00000568768,;AC097374.2,intron_variant,,ENST00000582835,;TEKT4,non_coding_transcript_exon_variant,,ENST00000468063,;AC097374.2,non_coding_transcript_exon_variant,,ENST00000597308,;	uc002stw.1	c.245G>A	382/1505	1	1			c.245G>A						2	SNP	c.(244-246)CGC>CAC	59	59			ovary(1)|breast(1)|skin(1)	3	Broad	tektin 4			95537569		0.692	ENSG00000163060	15511	g.chr2:95537569G>A	cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule								30.247105	KEEP	6	6	-1	6	9	6	6	-1	30.286753	6	9	0.454545	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	55	GBM-06-0238-TP	p.R82H	G	CTGGCGCAGCGCACGCAGCAA	NM_144705	NP_653306	95537569	Q8WW24	TEKT4_HUMAN	0			1	338	+	A	A			Missense_Mutation	82						
TEKT4	0	broad.mit.edu	GRCh37	2	95539765	95539765	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01	TCGA-28-1753-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295201.4:c.625G>A	p.Ala209Thr	p.A209T	ENST00000295201	NM_144705.2	209	Gcc/Acc	0			1			A	A/T	uc002stw.1	protein_coding	YES	CCDS2005.1			625/1308									ovary(1)|breast(1)|skin(1)	3	c.(625-627)GCC>ACC			Pfam_domain:PF03148,hmmpanther:PTHR19960,hmmpanther:PTHR19960:SF12	tektin 4				ENSP00000295201		6-Mar	8.24E-06					1.51E-05			rs781986882,COSM3408034	6-Mar	.		ENST00000295201	Transcript			cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		ENSG00000163060	g.chr2:95539765G>A	31012			MODERATE		1.625	low	getma.org/?cm=msa&ty=f&p=TEKT4_HUMAN&rb=44&re=427&var=A209T	NA	getma.org/?cm=var&var=hg19,2,95539765,G,A&fts=all	A209T	--	--	1																																		uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	0,1	1		benign(0.364)	p.A209T	NM_144705	NP_653306		tolerated(0.29)	0,1	TEKT4_HUMAN	TEKT4	HGNC	Q8WW24	TEKT4_HUMAN					3	718	+			UPI00000730A8	209					SNV	TEKT4,missense_variant,p.Ala209Thr,ENST00000295201,NM_144705.2;TEKT4,downstream_gene_variant,,ENST00000427593,NM_001286559.1;AC097374.2,intron_variant,,ENST00000568768,;AC097374.2,intron_variant,,ENST00000582835,;TEKT4,non_coding_transcript_exon_variant,,ENST00000468063,;AC097374.2,intron_variant,,ENST00000597308,;	uc002stw.1	c.625G>A	762/1505	2	2			c.625G>A						2	SNP	c.(625-627)GCC>ACC	24	24			ovary(1)|breast(1)|skin(1)	3	Broad	tektin 4			95539765		0.652	ENSG00000163060	15511	g.chr2:95539765G>A	cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule								119.350505	KEEP	25	23	-1	42	38	25	23	-1	120.059122	42	38	0.41	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	207	GBM-28-1753-TP	p.A209T	G	CAAGATGGAGGCCTACAACAT	NM_144705	NP_653306	95539765	Q8WW24	TEKT4_HUMAN	0			3	718	+	A	A			Missense_Mutation	209						
TEKT5	0	broad.mit.edu	GRCh37	16	10783110	10783110	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5960-01	TCGA-19-5960-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283025.2:c.719G>A	p.Arg240Gln	p.R240Q	ENST00000283025	NM_144674.1	240	cGg/cAg	0			1			T	R/Q	uc002czz.1	protein_coding	YES	CCDS10542.1			719/1458									ovary(2)	2	c.(718-720)CGG>CAG			Pfam_domain:PF03148,hmmpanther:PTHR19960,hmmpanther:PTHR19960:SF23	tektin 5				ENSP00000283025		7-Mar									COSM3402053	7-Mar	.		ENST00000283025	Transcript			microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		ENSG00000153060	g.chr16:10783110C>T	26554			MODERATE		2.265	medium	getma.org/?cm=msa&ty=f&p=TEKT5_HUMAN&rb=94&re=477&var=R240Q	NA	getma.org/?cm=var&var=hg19,16,10783110,C,T&fts=all	R240Q	--	--	1																																			1	1		benign(0.081)	p.R240Q	NM_144674	NP_653275		tolerated(0.34)	1	TEKT5_HUMAN	TEKT5	HGNC	Q96M29	TEKT5_HUMAN			I3L1F7_HUMAN		3	791	-			UPI000006D1A0	240			Potential.		SNV	TEKT5,missense_variant,p.Arg240Gln,ENST00000283025,NM_144674.1;TEKT5,missense_variant,p.Arg13Gln,ENST00000576638,;RP11-109M19.1,upstream_gene_variant,,ENST00000576710,;	uc002czz.1	c.719G>A	791/1612	2	2			c.719G>A						16	SNP	c.(718-720)CGG>CAG	25	25			ovary(2)	2	Broad	tektin 5			10783110		0.413	ENSG00000153060	15512	g.chr16:10783110C>T	microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule								64.163631	KEEP	13	10	-1	8	22	13	10	-1	64.207577	8	22	0.466667	1	0	0	0	0	1	0	0	0	--	--		0	T				178	GBM-19-5960-TP	p.R240Q	C	AAGCCCTTACCGCATCTGGAT	NM_144674	NP_653275	10783110	Q96M29	TEKT5_HUMAN	0			3	791	-	T	T			Missense_Mutation	240			Potential.			
TEKT5	146279		GRCh37	16	10788195	10788195	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000283025.2:c.536C>T	p.Ala179Val	p.A179V	ENST00000283025	NM_144674.1	179	gCg/gTg	0																																																																																																																																																																																																																																												
TENM1	10178	broad.mit.edu	GRCh37	X	123637433	123637433	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0145-01	TCGA-06-0145-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000422452.2:c.3422A>G	p.His1141Arg	p.H1141R	ENST00000422452	NM_001163279.1	1141	cAt/cGt	0			1			C	H/R	uc004euj.2	protein_coding		CCDS14609.1			3422/8178									ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23	c.(3421-3423)CAT>CGT			hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF7	odz, odd Oz/ten-m homolog 1 isoform 3				ENSP00000360171		19/31									COSM2149712	19/31	.		ENST00000371130	Transcript			immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	ENSG00000009694	g.chrX:123637433T>C	8117			MODERATE		2.675	medium	getma.org/?cm=msa&ty=f&p=TEN1_HUMAN&rb=953&re=1152&var=H1141R	NA	getma.org/?cm=var&var=hg19,X,123637433,T,C&fts=all	H1141R	--	--	1																																		ODZ1_uc011muj.1_Missense_Mutation_p.H1140R|ODZ1_uc010nqy.2_Missense_Mutation_p.H1141R	1			probably_damaging(0.985)	p.H1141R	NM_014253	NP_055068		deleterious(0)	1	TEN1_HUMAN	TENM1	HGNC	Q9UKZ4	TEN1_HUMAN			G3CAS6_HUMAN		19	3486	-			UPI0000050EDD	1141			Extracellular (Potential).		SNV	TENM1,missense_variant,p.His1141Arg,ENST00000422452,NM_001163279.1,NM_001163278.1;TENM1,missense_variant,p.His1141Arg,ENST00000371130,NM_014253.3;	uc004euj.2	c.3422A>G	3486/12875	3	3			c.3422A>G						23	SNP	c.(3421-3423)CAT>CGT	4	4			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23	Broad	odz, odd Oz/ten-m homolog 1 isoform 3			123637433		0.358	ENSG00000009694	10643	g.chrX:123637433T>C	immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			623			623	371.274685	KEEP	63	61	-1	85	100	63	61	-1	373.281976	85	100	0.408088	1	0	0	0	0	1	0	0	0	--	--		0	C			ODZ1_uc011muj.1_Missense_Mutation_p.H1140R|ODZ1_uc010nqy.2_Missense_Mutation_p.H1141R	23	GBM-06-0145-TP	p.H1141R	T	CAAAATGTGATGCTTATTCAA	NM_014253	NP_055068	123637433	Q9UKZ4	TEN1_HUMAN	0			19	3486	-	C	C			Missense_Mutation	1141			Extracellular (Potential).			
TENM1	0	broad.mit.edu	GRCh37	X	123514489	123514489	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-12-0615-01	TCGA-12-0615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371130.3:c.8075G>T	p.Gly2692Val	p.G2692V	ENST00000371130	NM_014253.3	2692	gGt/gTt	0			1			A	G/V	uc004euj.2	protein_coding		CCDS14609.1			8075/8178									ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23	c.(8074-8076)GGT>GTT			Pfam_domain:PF15636,hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF7	odz, odd Oz/ten-m homolog 1 isoform 3				ENSP00000360171		31/31									COSM2153485	31/31	.		ENST00000371130	Transcript			immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	ENSG00000009694	g.chrX:123514489C>A	8117			MODERATE		2.435	medium	getma.org/?cm=msa&ty=f&p=TEN1_HUMAN&rb=2427&re=2723&var=G2692V	NA	getma.org/?cm=var&var=hg19,X,123514489,C,A&fts=all	G2692V	--	--	1																																		ODZ1_uc011muj.1_Missense_Mutation_p.G2698V|ODZ1_uc010nqy.2_Missense_Mutation_p.G2699V	1			probably_damaging(0.999)	p.G2692V	NM_014253	NP_055068		deleterious(0)	1	TEN1_HUMAN	TENM1	HGNC	Q9UKZ4	TEN1_HUMAN			G3CAS6_HUMAN		31	8139	-			UPI0000050EDD	2692			Extracellular (Potential).		SNV	TENM1,missense_variant,p.Gly2699Val,ENST00000422452,NM_001163279.1,NM_001163278.1;TENM1,missense_variant,p.Gly2692Val,ENST00000371130,NM_014253.3;STAG2,intron_variant,,ENST00000469481,;	uc004euj.2	c.8075G>T	8139/12875	1	1			c.8075G>T						23	SNP	c.(8074-8076)GGT>GTT	56	56			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23	Broad	odz, odd Oz/ten-m homolog 1 isoform 3			123514489		0.463	ENSG00000009694	10643	g.chrX:123514489C>A	immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			623			623	473.357213	KEEP	91	79	0.464705882	153	122	91	79	0.464705882	478.461219	153	122	0.378788	1	0	0	0	0	1	0	0	0	--	--		0	A			ODZ1_uc011muj.1_Missense_Mutation_p.G2698V|ODZ1_uc010nqy.2_Missense_Mutation_p.G2699V	117	GBM-12-0615-TP	p.G2692V	C	CCCATCGTAACCTTGTACCCG	NM_014253	NP_055068	123514489	Q9UKZ4	TEN1_HUMAN	0			31	8139	-	A	A			Missense_Mutation	2692			Extracellular (Potential).			
TENM1	0	broad.mit.edu	GRCh37	X	123870959	123870959	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-2554-01	TCGA-14-2554-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371130.3:c.624G>T	p.Lys208Asn	p.K208N	ENST00000371130	NM_014253.3	208	aaG/aaT	0			1			A	K/N	uc004euj.2	protein_coding		CCDS14609.1			624/8178									ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23	c.(622-624)AAG>AAT			Pfam_domain:PF06484,PROSITE_profiles:PS51361,hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF7	odz, odd Oz/ten-m homolog 1 isoform 3				ENSP00000360171		Apr-31									COSM3405928	Apr-31	.		ENST00000371130	Transcript			immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	ENSG00000009694	g.chrX:123870959C>A	8117			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=TEN1_HUMAN&rb=159&re=317&var=K208N	NA	getma.org/?cm=var&var=hg19,X,123870959,C,A&fts=all	K208N	--	--	1																																		ODZ1_uc011muj.1_Missense_Mutation_p.K208N|ODZ1_uc010nqy.2_Missense_Mutation_p.K208N	1			benign(0.258)	p.K208N	NM_014253	NP_055068		tolerated_low_confidence(0.14)	1	TEN1_HUMAN	TENM1	HGNC	Q9UKZ4	TEN1_HUMAN			G3CAS6_HUMAN		4	688	-			UPI0000050EDD	208			Teneurin N-terminal.|Cytoplasmic (Potential).		SNV	TENM1,missense_variant,p.Lys208Asn,ENST00000422452,NM_001163279.1,NM_001163278.1;TENM1,missense_variant,p.Lys208Asn,ENST00000371130,NM_014253.3;	uc004euj.2	c.624G>T	688/12875	2	2			c.624G>T						23	SNP	c.(622-624)AAG>AAT	34	34			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23	Broad	odz, odd Oz/ten-m homolog 1 isoform 3			123870959		0.622	ENSG00000009694	10643	g.chrX:123870959C>A	immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			623			623	175.264495	KEEP	36	37	0.506849315	82	89	36	37	0.506849315	183.938018	82	89	0.296137	1	0	0	0	0	1	0	0	0	--	--		0	A			ODZ1_uc011muj.1_Missense_Mutation_p.K208N|ODZ1_uc010nqy.2_Missense_Mutation_p.K208N	150	GBM-14-2554-TP	p.K208N	C	CAGGGGGTGGCTTCCTGGCAC	NM_014253	NP_055068	123870959	Q9UKZ4	TEN1_HUMAN	0			4	688	-	A	A			Missense_Mutation	208			Teneurin N-terminal.|Cytoplasmic (Potential).			
TENM2	57451	broad.mit.edu	GRCh37	5	167553791	167553791	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0128-01	TCGA-06-0128-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000518659.1:c.2242G>A	p.Val748Ile	p.V748I	ENST00000518659	NM_001122679.1	748	Gtc/Atc	0		A:0	1	A:0		A	V/I	uc010jjd.2	protein_coding	YES				2242/8325									ovary(6)|central_nervous_system(4)	10	c.(2242-2244)GTC>ATC			Gene3D:2gy5A03,hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF8,SMART_domains:SM00181	odz, odd Oz/ten-m homolog 2		A:0.002		ENSP00000429430	A:0	29-Dec	0.000165			0.00183		6.77E-05	0.0013	7.12E-05	rs374882111,COSM3410103,COSM3410100,COSM3410102,COSM3410101	29-Dec	common_variant		ENST00000518659	Transcript		A:0.0004				ENSG00000145934	g.chr5:167553791G>A	29943			MODERATE		0.36	neutral	getma.org/?cm=msa&ty=f&p=TEN2_HUMAN&rb=718&re=786&var=V748I	getma.org/pdb.php?prot=TEN2_HUMAN&from=738&to=766&var=V748I	getma.org/?cm=var&var=hg19,5,167553791,G,A&fts=all	V748I	--	--	1																																		ODZ2_uc003lzr.3_Missense_Mutation_p.V516I|ODZ2_uc003lzt.3_Missense_Mutation_p.V112I|ODZ2_uc010jje.2_Missense_Mutation_p.V19I|uc003lzs.1_Intron	0,1,1,1,1	1		benign(0.081)	p.V748I	NM_001122679	NP_001116151	A:0	tolerated(0.18)	0,1,1,1,1	TEN2_HUMAN	TENM2	HGNC			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	G8BLJ6_HUMAN,G3CAS7_HUMAN		12	2242	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	UPI0001C48FC2						SNV	TENM2,missense_variant,p.Val627Ile,ENST00000519204,;TENM2,missense_variant,p.Val581Ile,ENST00000403607,;TENM2,missense_variant,p.Val748Ile,ENST00000518659,NM_001122679.1;TENM2,missense_variant,p.Val748Ile,ENST00000545108,;TENM2,missense_variant,p.Val516Ile,ENST00000520394,;CTB-178M22.1,intron_variant,,ENST00000517408,;	uc010jjd.2	c.2242G>A	2281/8550	2	2			c.2242G>A						5	SNP	c.(2242-2244)GTC>ATC	26	26			ovary(6)|central_nervous_system(4)	10	Broad	odz, odd Oz/ten-m homolog 2			167553791		0.587	ENSG00000145934	10644	g.chr5:167553791G>A										6.215628	KEEP	1	2	-1	11	7	1	2	-1	8.333421	11	7	0.157895	1	0	0	0	0	1	0	0	0	--	--		0	A			ODZ2_uc003lzr.3_Missense_Mutation_p.V516I|ODZ2_uc003lzt.3_Missense_Mutation_p.V112I|ODZ2_uc010jje.2_Missense_Mutation_p.V19I|uc003lzs.1_Intron	14	GBM-06-0128-TP	p.V748I	G	CACTCACGGCGTCTGCATCGG	NM_001122679	NP_001116151	167553791			0	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	12	2242	+	A	A	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Missense_Mutation							
TENM2	57451	broad.mit.edu	GRCh37	5	167674863	167674863	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01	TCGA-06-0173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000518659.1:c.6919C>T	p.Arg2307Trp	p.R2307W	ENST00000518659	NM_001122679.1	2307	Cgg/Tgg	0			1			T	R/W	uc010jjd.2	protein_coding	YES				6919/8325									ovary(6)|central_nervous_system(4)	10	c.(6892-6894)CGG>TGG			hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF8	odz, odd Oz/ten-m homolog 2				ENSP00000429430		27/29									COSM1259859,COSM1259857,COSM1259858,COSM3410112	27/29	.		ENST00000518659	Transcript						ENSG00000145934	g.chr5:167674863C>T	29943			MODERATE		3.545	high	getma.org/?cm=msa&ty=f&p=TEN2_HUMAN&rb=2149&re=2348&var=R2307W	NA	getma.org/?cm=var&var=hg19,5,167674863,C,T&fts=all	R2307W	--	--	1																																		ODZ2_uc003lzr.3_Missense_Mutation_p.R2068W|ODZ2_uc003lzt.3_Missense_Mutation_p.R1671W|ODZ2_uc010jje.2_Missense_Mutation_p.R1562W	1,1,1,1	1		probably_damaging(1)	p.R2298W	NM_001122679	NP_001116151		deleterious(0)	1,1,1,1	TEN2_HUMAN	TENM2	HGNC			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	G8BLJ6_HUMAN,G3CAS7_HUMAN		27	6892	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	UPI0001C48FC2						SNV	TENM2,missense_variant,p.Arg2186Trp,ENST00000519204,;TENM2,missense_variant,p.Arg2131Trp,ENST00000403607,;TENM2,missense_variant,p.Arg2307Trp,ENST00000518659,NM_001122679.1;TENM2,missense_variant,p.Arg2306Trp,ENST00000545108,;TENM2,missense_variant,p.Arg2068Trp,ENST00000520394,;	uc010jjd.2	c.6892C>T	6958/8550	2	2			c.6892C>T						5	SNP	c.(6892-6894)CGG>TGG	47	47			ovary(6)|central_nervous_system(4)	10	Broad	odz, odd Oz/ten-m homolog 2			167674863		0.552	ENSG00000145934	10644	g.chr5:167674863C>T										139.64577	KEEP	30	40	-1	53	71	30	40	-1	144.124033	53	71	0.322981	1	0	0	0	0	1	0	0	0	--	--		0	T			ODZ2_uc003lzr.3_Missense_Mutation_p.R2068W|ODZ2_uc003lzt.3_Missense_Mutation_p.R1671W|ODZ2_uc010jje.2_Missense_Mutation_p.R1562W	36	GBM-06-0173-TP	p.R2298W	C	TGGCGTAGGACGGCGGGCTTC	NM_001122679	NP_001116151	167674863			0	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	27	6892	+	T	T	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Missense_Mutation							
TENM2	57451	broad.mit.edu	GRCh37	5	167627098	167627098	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0238-01	TCGA-06-0238-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000518659.1:c.3392C>G	p.Ala1131Gly	p.A1131G	ENST00000518659	NM_001122679.1	1131	gCg/gGg	0			1			G	A/G	uc010jjd.2	protein_coding	YES				3392/8325									ovary(6)|central_nervous_system(4)	10	c.(3364-3366)GCG>GGG			hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF8	odz, odd Oz/ten-m homolog 2				ENSP00000429430		17/29									COSM3410111,COSM3410108,COSM3410110,COSM3410109	17/29	.		ENST00000518659	Transcript						ENSG00000145934	g.chr5:167627098C>G	29943			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=TEN2_HUMAN&rb=1100&re=1148&var=A1131G	NA	getma.org/?cm=var&var=hg19,5,167627098,C,G&fts=all	A1131G	--	--	1																																		ODZ2_uc003lzr.3_Missense_Mutation_p.A899G|ODZ2_uc003lzt.3_Missense_Mutation_p.A495G|ODZ2_uc010jje.2_Missense_Mutation_p.A393G	1,1,1,1	1		probably_damaging(0.999)	p.A1122G	NM_001122679	NP_001116151		deleterious(0)	1,1,1,1	TEN2_HUMAN	TENM2	HGNC			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	G8BLJ6_HUMAN,G3CAS7_HUMAN		17	3365	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	UPI0001C48FC2						SNV	TENM2,missense_variant,p.Ala1010Gly,ENST00000519204,;TENM2,missense_variant,p.Ala955Gly,ENST00000403607,;TENM2,missense_variant,p.Ala1131Gly,ENST00000518659,NM_001122679.1;TENM2,missense_variant,p.Ala1131Gly,ENST00000545108,;TENM2,missense_variant,p.Ala899Gly,ENST00000520394,;	uc010jjd.2	c.3365C>G	3431/8550	3	3			c.3365C>G						5	SNP	c.(3364-3366)GCG>GGG	3	3			ovary(6)|central_nervous_system(4)	10	Broad	odz, odd Oz/ten-m homolog 2			167627098		0.453	ENSG00000145934	10644	g.chr5:167627098C>G										55.359958	KEEP	12	8	-1	15	16	12	8	-1	55.77367	15	16	0.395349	1	0	0	0	0	1	0	0	0	--	--		0	G			ODZ2_uc003lzr.3_Missense_Mutation_p.A899G|ODZ2_uc003lzt.3_Missense_Mutation_p.A495G|ODZ2_uc010jje.2_Missense_Mutation_p.A393G	55	GBM-06-0238-TP	p.A1122G	C	AAGACAGATGCGTATGGCCAA	NM_001122679	NP_001116151	167627098			0	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	17	3365	+	G	G	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Missense_Mutation							
TENM2	0	broad.mit.edu	GRCh37	5	167626105	167626105	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs140215976	by1000genomes	TCGA-32-1986-01	TCGA-32-1986-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000518659.1:c.3148G>A	p.Val1050Met	p.V1050M	ENST00000518659	NM_001122679.1	1050	Gtg/Atg	0	A:0.0137	A:0.0174	1	A:0.0014		A	V/M	uc010jjd.2	protein_coding	YES				3148/8325									ovary(6)|central_nervous_system(4)	10	c.(3121-3123)GTG>ATG			hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF8	odz, odd Oz/ten-m homolog 2		A:0	A:0.0001	ENSP00000429430	A:0	16/29	0.00168	0.0161	0.00164		0.00269	0.000204	0.00357		rs140215976,COSM3410107,COSM3410104,COSM3410106,COSM3410105	16/29	common_variant		ENST00000518659	Transcript		A:0.0048				ENSG00000145934	g.chr5:167626105G>A	29943			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=TEN2_HUMAN&rb=975&re=1099&var=V1050M	NA	getma.org/?cm=var&var=hg19,5,167626105,G,A&fts=all	V1050M	--	--	1																																		ODZ2_uc003lzr.3_Missense_Mutation_p.V818M|ODZ2_uc003lzt.3_Missense_Mutation_p.V414M|ODZ2_uc010jje.2_Missense_Mutation_p.V312M	0,1,1,1,1	1		possibly_damaging(0.741)	p.V1041M	NM_001122679	NP_001116151	A:0	deleterious(0)	0,1,1,1,1	TEN2_HUMAN	TENM2	HGNC			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	G8BLJ6_HUMAN,G3CAS7_HUMAN		16	3121	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	UPI0001C48FC2						SNV	TENM2,missense_variant,p.Val929Met,ENST00000519204,;TENM2,missense_variant,p.Val874Met,ENST00000403607,;TENM2,missense_variant,p.Val1050Met,ENST00000518659,NM_001122679.1;TENM2,missense_variant,p.Val1050Met,ENST00000545108,;TENM2,missense_variant,p.Val818Met,ENST00000520394,;	uc010jjd.2	c.3121G>A	3187/8550	2	2			c.3121G>A						5	SNP	c.(3121-3123)GTG>ATG	22	22			ovary(6)|central_nervous_system(4)	10	Broad	odz, odd Oz/ten-m homolog 2			167626105		0.587	ENSG00000145934	10644	g.chr5:167626105G>A										12.531635	KEEP	2	4	-1	15	12	2	4	-1	15.044152	15	12	0.2	1	0	0	0	0	1	0	0	0	--	--		0	A			ODZ2_uc003lzr.3_Missense_Mutation_p.V818M|ODZ2_uc003lzt.3_Missense_Mutation_p.V414M|ODZ2_uc010jje.2_Missense_Mutation_p.V312M	233	GBM-32-1986-TP	p.V1041M	G	GAATCCCATCGTGCCTGAGAC	NM_001122679	NP_001116151	167626105			0	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	16	3121	+	A	A	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Missense_Mutation							
TENM2	0	broad.mit.edu	GRCh37	5	167551889	167551889	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-41-5651-01	TCGA-41-5651-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000518659.1:c.2043A>G	p.Gly681=	p.G681=	ENST00000518659	NM_001122679.1	681	ggA/ggG	0			1			G	G	uc010jjd.2	protein_coding	YES				2043/8325									ovary(6)|central_nervous_system(4)	10	c.(2041-2043)GGA>GGG			Gene3D:2.10.25.10,hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF8,SMART_domains:SM00179,SMART_domains:SM00181	odz, odd Oz/ten-m homolog 2				ENSP00000429430		29-Nov									COSM3410099,COSM3410096,COSM3410098,COSM3410097	29-Nov	.		ENST00000518659	Transcript						ENSG00000145934	g.chr5:167551889A>G	29943			LOW								--	--	1																																		ODZ2_uc003lzr.3_Silent_p.G449G|ODZ2_uc003lzt.3_Silent_p.G45G|ODZ2_uc010jje.2_5'UTR|uc003lzs.1_Intron	1,1,1,1	1			p.G681G	NM_001122679	NP_001116151			1,1,1,1	TEN2_HUMAN	TENM2	HGNC			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	G8BLJ6_HUMAN,G3CAS7_HUMAN		11	2043	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	UPI0001C48FC2						SNV	TENM2,synonymous_variant,p.=,ENST00000519204,;TENM2,synonymous_variant,p.=,ENST00000403607,;TENM2,synonymous_variant,p.=,ENST00000518659,NM_001122679.1;TENM2,synonymous_variant,p.=,ENST00000545108,;TENM2,synonymous_variant,p.=,ENST00000520394,;CTB-178M22.1,intron_variant,,ENST00000517408,;	uc010jjd.2	c.2043A>G	2082/8550	3	3			c.2043A>G						5	SNP	c.(2041-2043)GGA>GGG	12	12			ovary(6)|central_nervous_system(4)	10	Broad	odz, odd Oz/ten-m homolog 2			167551889		0.512	ENSG00000145934	10644	g.chr5:167551889A>G										14.361148	KEEP	5	2	-1	5	12	5	2	-1	14.734608	5	12	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	G			ODZ2_uc003lzr.3_Silent_p.G449G|ODZ2_uc003lzt.3_Silent_p.G45G|ODZ2_uc010jje.2_5'UTR|uc003lzs.1_Intron	258	GBM-41-5651-TP	p.G681G	A	CCAGCCACGGAGTCTGTGTGA	NM_001122679	NP_001116151	167551889			0	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	11	2043	+	G	G	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Silent							
TENM2	57451		GRCh37	5	167645612	167645612	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000518659.1:c.4716G>C	p.Lys1572Asn	p.K1572N	ENST00000518659	NM_001122679.1	1572	aaG/aaC	0																																																																																																																																																																																																																																												
TENM3	55714	broad.mit.edu	GRCh37	4	183713527	183713527	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01	TCGA-06-0169-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000511685.1:c.5702C>T	p.Thr1901Ile	p.T1901I	ENST00000511685		1901	aCc/aTc	0			1			T	T/I	uc003ivd.1	protein_coding	YES	CCDS47165.1			5702/8100										0	c.(5701-5703)ACC>ATC			hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10	odz, odd Oz/ten-m homolog 3				ENSP00000424226		26/28									COSM3409183	26/28	.		ENST00000511685	Transcript	1		signal transduction	integral to membrane		ENSG00000218336	g.chr4:183713527C>T	29944			MODERATE		2.455	medium	getma.org/?cm=msa&ty=f&p=TEN3_HUMAN&rb=1711&re=1910&var=T1901I	NA	getma.org/?cm=var&var=hg19,4,183713527,C,T&fts=all	T1901I	--	--	1																																			1	1		possibly_damaging(0.86)	p.T1901I	NM_001080477	NP_001073946		deleterious(0.01)	1	TEN3_HUMAN	TENM3	HGNC	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	G3CAS9_HUMAN,D6RGC5_HUMAN		25	5739	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	UPI00006C0820	1901			YD 7.|Extracellular (Potential).		SNV	TENM3,missense_variant,p.Thr1901Ile,ENST00000511685,;TENM3,missense_variant,p.Thr1901Ile,ENST00000406950,NM_001080477.1;	uc003ivd.1	c.5702C>T	5825/10896	1	1			c.5702C>T						4	SNP	c.(5701-5703)ACC>ATC	15	15				0	Broad	odz, odd Oz/ten-m homolog 3			183713527		0.547	ENSG00000218336	10645	g.chr4:183713527C>T	signal transduction	integral to membrane								27.342718	KEEP	10	6	-1	22	24	10	6	-1	27.845765	22	24	0.357143	1	0	0	0	0	1	0	0	0	--	--		0	T				34	GBM-06-0169-TP	p.T1901I	C	GCTCGCCACACCATGCAGACC	NM_001080477	NP_001073946	183713527	Q9P273	TEN3_HUMAN	0		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	25	5739	+	T	T		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	Missense_Mutation	1901			YD 7.|Extracellular (Potential).			
TENM3	55714	broad.mit.edu	GRCh37	4	183594343	183594343	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0648-01	TCGA-06-0648-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000511685.1:c.1297C>T	p.Arg433Trp	p.R433W	ENST00000511685		433	Cgg/Tgg	0			1			T	R/W	uc003ivd.1	protein_coding	YES	CCDS47165.1			1297/8100										0	c.(1297-1299)CGG>TGG			hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10	odz, odd Oz/ten-m homolog 3				ENSP00000424226		28-Jul									COSM2151396	28-Jul	.		ENST00000511685	Transcript	1		signal transduction	integral to membrane		ENSG00000218336	g.chr4:183594343C>T	29944			MODERATE		2.595	medium	getma.org/?cm=msa&ty=f&p=TEN3_HUMAN&rb=309&re=508&var=R433W	NA	getma.org/?cm=var&var=hg19,4,183594343,C,T&fts=all	R433W	--	--	1																																			1	1		possibly_damaging(0.689)	p.R433W	NM_001080477	NP_001073946		deleterious(0)	1	TEN3_HUMAN	TENM3	HGNC	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	G3CAS9_HUMAN,D6RGC5_HUMAN		6	1334	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	UPI00006C0820	433			Extracellular (Potential).		SNV	TENM3,missense_variant,p.Arg433Trp,ENST00000511685,;TENM3,missense_variant,p.Arg433Trp,ENST00000406950,NM_001080477.1;	uc003ivd.1	c.1297C>T	1420/10896	2	2			c.1297C>T						4	SNP	c.(1297-1299)CGG>TGG	43	43				0	Broad	odz, odd Oz/ten-m homolog 3			183594343		0.388	ENSG00000218336	10645	g.chr4:183594343C>T	signal transduction	integral to membrane								64.557457	KEEP	15	11	-1	20	28	15	11	-1	66.105568	20	28	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	T				61	GBM-06-0648-TP	p.R433W	C	AGTATATGGCCGGAAAGGCTT	NM_001080477	NP_001073946	183594343	Q9P273	TEN3_HUMAN	0		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	6	1334	+	T	T		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	Missense_Mutation	433			Extracellular (Potential).			
TENM3	0	broad.mit.edu	GRCh37	4	183714528	183714528	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6700-01	TCGA-06-6700-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000511685.1:c.6703C>T	p.Arg2235Cys	p.R2235C	ENST00000511685		2235	Cgt/Tgt	0			1			T	R/C	uc003ivd.1	protein_coding	YES	CCDS47165.1			6703/8100										0	c.(6703-6705)CGT>TGT			hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10	odz, odd Oz/ten-m homolog 3				ENSP00000424226		26/28									COSM1053573	26/28	.		ENST00000511685	Transcript	1		signal transduction	integral to membrane		ENSG00000218336	g.chr4:183714528C>T	29944			MODERATE		3.32	medium	getma.org/?cm=msa&ty=f&p=TEN3_HUMAN&rb=2111&re=2310&var=R2235C	getma.org/pdb.php?prot=TEN3_HUMAN&from=2111&to=2310&var=R2235C	getma.org/?cm=var&var=hg19,4,183714528,C,T&fts=all	R2235C	--	--	1																																			1	1		possibly_damaging(0.876)	p.R2235C	NM_001080477	NP_001073946		deleterious(0)	1	TEN3_HUMAN	TENM3	HGNC	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	G3CAS9_HUMAN,D6RGC5_HUMAN		25	6740	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	UPI00006C0820	2235			YD 22.|Extracellular (Potential).		SNV	TENM3,missense_variant,p.Arg2235Cys,ENST00000511685,;TENM3,missense_variant,p.Arg2235Cys,ENST00000406950,NM_001080477.1;	uc003ivd.1	c.6703C>T	6826/10896	2	2			c.6703C>T						4	SNP	c.(6703-6705)CGT>TGT	46	46				0	Broad	odz, odd Oz/ten-m homolog 3			183714528		0.453	ENSG00000218336	10645	g.chr4:183714528C>T	signal transduction	integral to membrane								25.566164	KEEP	9	4	-1	30	25	9	4	-1	30.387411	30	25	0.20339	1	0	0	0	0	1	0	0	0	--	--		0	T				114	GBM-06-6700-TP	p.R2235C	C	CCTGGGAAGGCGTGTTTCTAG	NM_001080477	NP_001073946	183714528	Q9P273	TEN3_HUMAN	0		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	25	6740	+	T	T		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	Missense_Mutation	2235			YD 22.|Extracellular (Potential).			
TENM3	0	broad.mit.edu	GRCh37	4	183710311	183710311	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-2625-01	TCGA-19-2625-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000511685.1:c.5370C>T	p.Asp1790=	p.D1790=	ENST00000511685		1790	gaC/gaT	0		T:0	1	T:0		T	D	uc003ivd.1	protein_coding	YES	CCDS47165.1			5370/8100										0	c.(5368-5370)GAC>GAT			hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10	odz, odd Oz/ten-m homolog 3		T:0.001		ENSP00000424226	T:0	25/28	9.93E-05		0.000109	0.000959		5.27E-05		7.33E-05	rs576293347,COSM3409182	25/28	common_variant		ENST00000511685	Transcript	1	T:0.0004	signal transduction	integral to membrane		ENSG00000218336	g.chr4:183710311C>T	29944			LOW								--	--	1																																			0,1	1			p.D1790D	NM_001080477	NP_001073946	T:0.001		0,1	TEN3_HUMAN	TENM3	HGNC	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	G3CAS9_HUMAN,D6RGC5_HUMAN		24	5407	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	UPI00006C0820	1790			Extracellular (Potential).		SNV	TENM3,synonymous_variant,p.=,ENST00000511685,;TENM3,synonymous_variant,p.=,ENST00000406950,NM_001080477.1;	uc003ivd.1	c.5370C>T	5493/10896	2	2			c.5370C>T						4	SNP	c.(5368-5370)GAC>GAT	46	46				0	Broad	odz, odd Oz/ten-m homolog 3			183710311		0.448	ENSG00000218336	10645	g.chr4:183710311C>T	signal transduction	integral to membrane								20.791611	KEEP	5	3	-1	10	8	5	3	-1	21.511082	10	8	0.32	1	0	0	0	0	0	0	1	0	--	--		0	T				165	GBM-19-2625-TP	p.D1790D	C	AGATCTATGACGACCACCGTA	NM_001080477	NP_001073946	183710311	Q9P273	TEN3_HUMAN	0		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	24	5407	+	T	T		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	Silent	1790			Extracellular (Potential).			
TENM3	0	broad.mit.edu	GRCh37	4	183574978	183574978	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-2638-01	TCGA-32-2638-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000511685.1:c.1043T>C	p.Phe348Ser	p.F348S	ENST00000511685		348	tTt/tCt	0			1			C	F/S	uc003ivd.1	protein_coding	YES	CCDS47165.1			1043/8100										0	c.(1042-1044)TTT>TCT			hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10	odz, odd Oz/ten-m homolog 3				ENSP00000424226		28-Jun									rs753220175,COSM3409179	28-Jun	.		ENST00000511685	Transcript	1		signal transduction	integral to membrane		ENSG00000218336	g.chr4:183574978T>C	29944			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=TEN3_HUMAN&rb=309&re=508&var=F348S	NA	getma.org/?cm=var&var=hg19,4,183574978,T,C&fts=all	F348S	--	--	1																																			0,1	1		benign(0.307)	p.F348S	NM_001080477	NP_001073946		deleterious(0.04)	0,1	TEN3_HUMAN	TENM3	HGNC	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	G3CAS9_HUMAN,D6RGC5_HUMAN		5	1080	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	UPI00006C0820	348			Extracellular (Potential).		SNV	TENM3,missense_variant,p.Phe348Ser,ENST00000511685,;TENM3,missense_variant,p.Phe348Ser,ENST00000406950,NM_001080477.1;	uc003ivd.1	c.1043T>C	1166/10896	3	3			c.1043T>C						4	SNP	c.(1042-1044)TTT>TCT	61	61				0	Broad	odz, odd Oz/ten-m homolog 3			183574978		0.418	ENSG00000218336	10645	g.chr4:183574978T>C	signal transduction	integral to membrane								121.119974	KEEP	21	17	-1	22	22	21	17	-1	121.342447	22	22	0.443038	1	0	0	0	0	1	0	0	0	--	--		0	C				242	GBM-32-2638-TP	p.F348S	T	AATGACACATTTGAGAATGGA	NM_001080477	NP_001073946	183574978	Q9P273	TEN3_HUMAN	0		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	5	1080	+	C	C		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	Missense_Mutation	348			Extracellular (Potential).			
TENM3	55714		GRCh37	4	183651467	183651467	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000511685.1:c.2700C>T	p.Asp900=	p.D900=	ENST00000511685		900	gaC/gaT	0																																																																																																																																																																																																																																												
TENM3	55714		GRCh37	4	183714569	183714569	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000511685.1:c.6744T>C	p.Phe2248=	p.F2248=	ENST00000511685		2248	ttT/ttC	0																																																																																																																																																																																																																																												
TENM4	26011	broad.mit.edu	GRCh37	11	78380034	78380034	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-1804-01	TCGA-06-1804-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278550.7:c.7356C>G	p.Phe2452Leu	p.F2452L	ENST00000278550	NM_001098816.2	2452	ttC/ttG	0			1			C	F/L	uc001ozl.3	protein_coding	YES	CCDS44688.1			7356/8310									ovary(2)|pancreas(2)	4	c.(7354-7356)TTC>TTG			TIGRFAM_domain:TIGR03696,hmmpanther:PTHR11219:SF9,hmmpanther:PTHR11219	odz, odd Oz/ten-m homolog 4				ENSP00000278550		32/34									COSM3398153,COSM3398154	32/34	.		ENST00000278550	Transcript			signal transduction	integral to membrane		ENSG00000149256	g.chr11:78380034G>C	29945			MODERATE		2.65	medium	getma.org/?cm=msa&ty=f&p=TEN4_HUMAN&rb=2325&re=2524&var=F2452L	NA	getma.org/?cm=var&var=hg19,11,78380034,G,C&fts=all	F2452L	--	--	1																																		ODZ4_uc001ozk.3_Missense_Mutation_p.F677L|ODZ4_uc009yvb.1_Missense_Mutation_p.F1036L	1,1	1		possibly_damaging(0.573)	p.F2452L	NM_001098816	NP_001092286		deleterious(0)	1,1	TEN4_HUMAN	TENM4	HGNC	Q6N022	TEN4_HUMAN			G3CAT1_HUMAN		32	7819	-			UPI0000DD8112	2452			Extracellular (Potential).		SNV	TENM4,missense_variant,p.Phe2452Leu,ENST00000278550,NM_001098816.2;TENM4,missense_variant,p.Phe916Leu,ENST00000530738,;	uc001ozl.3	c.7356C>G	7819/14000	3	3			c.7356C>G						11	SNP	c.(7354-7356)TTC>TTG	15	15			ovary(2)|pancreas(2)	4	Broad	odz, odd Oz/ten-m homolog 4			78380034		0.507	ENSG00000149256	10646	g.chr11:78380034G>C	signal transduction	integral to membrane								122.634285	KEEP	21	22	-1	43	46	21	22	-1	125.879802	43	46	0.321739	1	0	0	0	0	1	0	0	0	--	--		0	C			ODZ4_uc001ozk.3_Missense_Mutation_p.F677L|ODZ4_uc009yvb.1_Missense_Mutation_p.F1036L	79	GBM-06-1804-TP	p.F2452L	G	TGTTGTTTTTGAACATATAGA	NM_001098816	NP_001092286	78380034	Q6N022	TEN4_HUMAN	0			32	7819	-	C	C			Missense_Mutation	2452			Extracellular (Potential).			
TENM4	0	broad.mit.edu	GRCh37	11	78380644	78380644	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-12-0821-01	TCGA-12-0821-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278550.7:c.6746G>T	p.Gly2249Val	p.G2249V	ENST00000278550	NM_001098816.2	2249	gGt/gTt	0			1			A	G/V	uc001ozl.3	protein_coding	YES	CCDS44688.1			6746/8310									ovary(2)|pancreas(2)	4	c.(6745-6747)GGT>GTT			hmmpanther:PTHR11219:SF9,hmmpanther:PTHR11219	odz, odd Oz/ten-m homolog 4				ENSP00000278550		32/34									COSM3398157,COSM3398158	32/34	.		ENST00000278550	Transcript			signal transduction	integral to membrane		ENSG00000149256	g.chr11:78380644C>A	29945			MODERATE		2.75	medium	getma.org/?cm=msa&ty=f&p=TEN4_HUMAN&rb=2187&re=2270&var=G2249V	NA	getma.org/?cm=var&var=hg19,11,78380644,C,A&fts=all	G2249V	--	--	1																																		ODZ4_uc001ozk.3_Missense_Mutation_p.G474V|ODZ4_uc009yvb.1_Missense_Mutation_p.G833V	1,1	1		probably_damaging(0.999)	p.G2249V	NM_001098816	NP_001092286		deleterious(0.04)	1,1	TEN4_HUMAN	TENM4	HGNC	Q6N022	TEN4_HUMAN			G3CAT1_HUMAN		32	7209	-			UPI0000DD8112	2249			Extracellular (Potential).|YD 20.		SNV	TENM4,missense_variant,p.Gly2249Val,ENST00000278550,NM_001098816.2;TENM4,missense_variant,p.Gly713Val,ENST00000530738,;	uc001ozl.3	c.6746G>T	7209/14000	2	2			c.6746G>T						11	SNP	c.(6745-6747)GGT>GTT	48	48			ovary(2)|pancreas(2)	4	Broad	odz, odd Oz/ten-m homolog 4			78380644		0.562	ENSG00000149256	10646	g.chr11:78380644C>A	signal transduction	integral to membrane								-9.227507	KEEP	23	8	0.258064516	239	158	23	8	0.258064516	57.514974	239	158	0.073034	1	0	0	0	0	1	0	0	0	--	--		0	A			ODZ4_uc001ozk.3_Missense_Mutation_p.G474V|ODZ4_uc009yvb.1_Missense_Mutation_p.G833V	123	GBM-12-0821-TP	p.G2249V	C	TTGCACGTCACCCAGCCGAGT	NM_001098816	NP_001092286	78380644	Q6N022	TEN4_HUMAN	0			32	7209	-	A	A			Missense_Mutation	2249			Extracellular (Potential).|YD 20.			
TENM4	0	broad.mit.edu	GRCh37	11	78440577	78440577	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-2629-01	TCGA-19-2629-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278550.7:c.3250A>G	p.Ile1084Val	p.I1084V	ENST00000278550	NM_001098816.2	1084	Atc/Gtc	0			1			C	I/V	uc001ozl.3	protein_coding	YES	CCDS44688.1			3250/8310									ovary(2)|pancreas(2)	4	c.(3250-3252)ATC>GTC			hmmpanther:PTHR11219:SF9,hmmpanther:PTHR11219	odz, odd Oz/ten-m homolog 4				ENSP00000278550		22/34									COSM3398159,COSM3398160	22/34	.		ENST00000278550	Transcript			signal transduction	integral to membrane		ENSG00000149256	g.chr11:78440577T>C	29945			MODERATE		0.045	neutral	getma.org/?cm=msa&ty=f&p=TEN4_HUMAN&rb=987&re=1186&var=I1084V	NA	getma.org/?cm=var&var=hg19,11,78440577,T,C&fts=all	I1084V	--	--	1																																			1,1	1		benign(0.085)	p.I1084V	NM_001098816	NP_001092286		tolerated(0.37)	1,1	TEN4_HUMAN	TENM4	HGNC	Q6N022	TEN4_HUMAN			G3CAT1_HUMAN		22	3713	-			UPI0000DD8112	1084			Extracellular (Potential).		SNV	TENM4,missense_variant,p.Ile1084Val,ENST00000278550,NM_001098816.2;	uc001ozl.3	c.3250A>G	3713/14000	3	3			c.3250A>G						11	SNP	c.(3250-3252)ATC>GTC	8	8			ovary(2)|pancreas(2)	4	Broad	odz, odd Oz/ten-m homolog 4			78440577		0.567	ENSG00000149256	10646	g.chr11:78440577T>C	signal transduction	integral to membrane								68.164294	KEEP	11	11	-1	18	19	11	11	-1	68.931321	18	19	0.375	1	0	0	0	0	1	0	0	0	--	--		0	C				166	GBM-19-2629-TP	p.I1084V	T	TTGAAGGGGATGGTCGGGTGG	NM_001098816	NP_001092286	78440577	Q6N022	TEN4_HUMAN	0			22	3713	-	C	C			Missense_Mutation	1084			Extracellular (Potential).			
TEP1	0	broad.mit.edu	GRCh37	14	20841727	20841727	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0740-01	TCGA-14-0740-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262715.5:c.6620C>T	p.Ser2207Leu	p.S2207L	ENST00000262715	NM_007110.4	2207	tCa/tTa	0			1			A	S/L	uc001vxe.2	protein_coding	YES	CCDS9548.1			6620/7884									ovary(5)	5	c.(6619-6621)TCA>TTA			Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF402,PROSITE_profiles:PS50294	telomerase-associated protein 1				ENSP00000262715		46/55									COSM3401196	46/55	.		ENST00000262715	Transcript			telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	ENSG00000129566	g.chr14:20841727G>A	11726			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=TEP1_HUMAN&rb=2175&re=2227&var=S2207L	NA	getma.org/?cm=var&var=hg19,14,20841727,G,A&fts=all	S2207L	--	--	1																																		TEP1_uc010ahj.1_5'Flank|TEP1_uc010ahk.2_Missense_Mutation_p.S1550L|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.S2099L|TEP1_uc010tlh.1_Missense_Mutation_p.S545L	1	1		possibly_damaging(0.642)	p.S2207L	NM_007110	NP_009041		deleterious(0.01)	1	TEP1_HUMAN	TEP1	HGNC	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	G3V591_HUMAN		46	6660	-	all_cancers(95;0.00123)	all_lung(585;0.235)	UPI000013D30B	2207			WD 14.		SNV	TEP1,missense_variant,p.Ser2207Leu,ENST00000262715,NM_007110.4;TEP1,missense_variant,p.Ser2099Leu,ENST00000556935,;TEP1,missense_variant,p.Ser545Leu,ENST00000545983,;TEP1,upstream_gene_variant,,ENST00000553984,;TEP1,missense_variant,p.Ser1550Leu,ENST00000555008,;TEP1,3_prime_UTR_variant,,ENST00000555727,;TEP1,3_prime_UTR_variant,,ENST00000557314,;TEP1,3_prime_UTR_variant,,ENST00000556488,;TEP1,upstream_gene_variant,,ENST00000553365,;TEP1,downstream_gene_variant,,ENST00000471684,;	uc001vxe.2	c.6620C>T	6661/10695	1	1			c.6620C>T						14	SNP	c.(6619-6621)TCA>TTA	55	55			ovary(5)	5	Broad	telomerase-associated protein 1			20841727		0.577	ENSG00000129566	15515	g.chr14:20841727G>A	telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding							74.644742	KEEP	11	17	-1	10	12	11	17	-1	74.88035	10	12	0.577778	1	0	0	0	0	1	0	0	0	--	--		0	A			TEP1_uc010ahj.1_5'Flank|TEP1_uc010ahk.2_Missense_Mutation_p.S1550L|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.S2099L|TEP1_uc010tlh.1_Missense_Mutation_p.S545L	132	GBM-14-0740-TP	p.S2207L	G	CAGAAGCTCTGACCCAGGCTG	NM_007110	NP_009041	20841727	Q99973	TEP1_HUMAN	0	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	46	6660	-	A	A	all_cancers(95;0.00123)	all_lung(585;0.235)	Missense_Mutation	2207			WD 14.			
TEP1	0	broad.mit.edu	GRCh37	14	20871545	20871545	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-1450-01	TCGA-14-1450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262715.5:c.1257G>A	p.Glu419=	p.E419=	ENST00000262715	NM_007110.4	419	gaG/gaA	0			1			T	E	uc001vxe.2	protein_coding	YES	CCDS9548.1			1257/7884									ovary(5)	5	c.(1255-1257)GAG>GAA			Pfam_domain:PF05731,PROSITE_profiles:PS50988	telomerase-associated protein 1				ENSP00000262715		Jul-55									COSM3401198	Jul-55	.		ENST00000262715	Transcript			telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	ENSG00000129566	g.chr14:20871545C>T	11726			LOW								--	--	1																																		TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.E311E	1	1			p.E419E	NM_007110	NP_009041			1	TEP1_HUMAN	TEP1	HGNC	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	G3V591_HUMAN		7	1297	-	all_cancers(95;0.00123)	all_lung(585;0.235)	UPI000013D30B	419			TROVE.		SNV	TEP1,synonymous_variant,p.=,ENST00000262715,NM_007110.4;TEP1,synonymous_variant,p.=,ENST00000556935,;TEP1,downstream_gene_variant,,ENST00000556549,;TEP1,synonymous_variant,p.=,ENST00000555727,;TEP1,non_coding_transcript_exon_variant,,ENST00000557627,;	uc001vxe.2	c.1257G>A	1298/10695	2	2			c.1257G>A						14	SNP	c.(1255-1257)GAG>GAA	45	45			ovary(5)	5	Broad	telomerase-associated protein 1			20871545		0.408	ENSG00000129566	15515	g.chr14:20871545C>T	telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding							-53.426501	KEEP	3	3	-1	136	158	3	3	-1	9.496422	136	158	0.024	1	0	0	0	0	0	0	1	0	--	--		0	T			TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.E311E	145	GBM-14-1450-TP	p.E419E	C	CCTTTCTCTGCTCTTCTCTGA	NM_007110	NP_009041	20871545	Q99973	TEP1_HUMAN	0	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	7	1297	-	T	T	all_cancers(95;0.00123)	all_lung(585;0.235)	Silent	419			TROVE.			
TEP1	0	broad.mit.edu	GRCh37	14	20873722	20873722	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-5955-01	TCGA-19-5955-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262715.5:c.758G>C	p.Cys253Ser	p.C253S	ENST00000262715	NM_007110.4	253	tGc/tCc	0			1			G	C/S	uc001vxe.2	protein_coding	YES	CCDS9548.1			758/7884									ovary(5)	5	c.(757-759)TGC>TCC			Superfamily_domains:0051422,Pfam_domain:PF05731,PROSITE_profiles:PS50988	telomerase-associated protein 1				ENSP00000262715		Apr-55									COSM3401199	Apr-55	.		ENST00000262715	Transcript			telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	ENSG00000129566	g.chr14:20873722C>G	11726			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=TEP1_HUMAN&rb=223&re=676&var=C253S	NA	getma.org/?cm=var&var=hg19,14,20873722,C,G&fts=all	C253S	--	--	1																																		TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.C253S	1	1		probably_damaging(1)	p.C253S	NM_007110	NP_009041		deleterious(0)	1	TEP1_HUMAN	TEP1	HGNC	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	G3V591_HUMAN		4	798	-	all_cancers(95;0.00123)	all_lung(585;0.235)	UPI000013D30B	253			TROVE.		SNV	TEP1,missense_variant,p.Cys253Ser,ENST00000262715,NM_007110.4;TEP1,missense_variant,p.Cys253Ser,ENST00000556935,;TEP1,downstream_gene_variant,,ENST00000556549,;TEP1,missense_variant,p.Cys253Ser,ENST00000555727,;TEP1,upstream_gene_variant,,ENST00000557627,;	uc001vxe.2	c.758G>C	799/10695	4	4			c.758G>C						14	SNP	c.(757-759)TGC>TCC	31	31			ovary(5)	5	Broad	telomerase-associated protein 1			20873722		0.468	ENSG00000129566	15515	g.chr14:20873722C>G	telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding							19.6556	KEEP	2	6	-1	23	17	2	6	-1	23.657904	23	17	0.186047	1	0	0	0	0	1	0	0	0	--	--		0	G			TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.C253S	175	GBM-19-5955-TP	p.C253S	C	CAGAGTAGAGCACAGCAAGCT	NM_007110	NP_009041	20873722	Q99973	TEP1_HUMAN	0	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	4	798	-	G	G	all_cancers(95;0.00123)	all_lung(585;0.235)	Missense_Mutation	253			TROVE.			
TEP1	0	broad.mit.edu	GRCh37	14	20846241	20846241	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-87-5896-01	TCGA-87-5896-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262715.5:c.5663C>T	p.Ala1888Val	p.A1888V	ENST00000262715	NM_007110.4	1888	gCt/gTt	0			1			A	A/V	uc001vxe.2	protein_coding	YES	CCDS9548.1			5663/7884									ovary(5)	5	c.(5662-5664)GCT>GTT			Superfamily_domains:SSF50978,SMART_domains:SM00320,Pfam_domain:PF00400,Gene3D:2.130.10.10,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF402,PROSITE_profiles:PS50294,PROSITE_profiles:PS50082	telomerase-associated protein 1				ENSP00000262715		39/55	8.24E-06					1.50E-05			rs773714772,COSM3401197	39/55	.		ENST00000262715	Transcript			telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	ENSG00000129566	g.chr14:20846241G>A	11726			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TEP1_HUMAN&rb=1874&re=1912&var=A1888V	NA	getma.org/?cm=var&var=hg19,14,20846241,G,A&fts=all	A1888V	--	--	1																																		TEP1_uc010ahk.2_Missense_Mutation_p.A1231V|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.A1780V|TEP1_uc010tlh.1_Missense_Mutation_p.A226V	0,1	1		benign(0.056)	p.A1888V	NM_007110	NP_009041		tolerated(0.2)	0,1	TEP1_HUMAN	TEP1	HGNC	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	G3V591_HUMAN		39	5703	-	all_cancers(95;0.00123)	all_lung(585;0.235)	UPI000013D30B	1888			WD 7.		SNV	TEP1,missense_variant,p.Ala1888Val,ENST00000262715,NM_007110.4;TEP1,missense_variant,p.Ala1780Val,ENST00000556935,;TEP1,missense_variant,p.Ala226Val,ENST00000545983,;TEP1,missense_variant,p.Ala1231Val,ENST00000555008,;TEP1,missense_variant,p.Ala43Val,ENST00000556488,;TEP1,3_prime_UTR_variant,,ENST00000555727,;TEP1,3_prime_UTR_variant,,ENST00000557314,;TEP1,upstream_gene_variant,,ENST00000553365,;TEP1,upstream_gene_variant,,ENST00000471684,;	uc001vxe.2	c.5663C>T	5704/10695	2	2			c.5663C>T						14	SNP	c.(5662-5664)GCT>GTT	29	29			ovary(5)	5	Broad	telomerase-associated protein 1			20846241		0.632	ENSG00000129566	15515	g.chr14:20846241G>A	telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding							-9.939933	KEEP	2	1	-1	38	46	2	1	-1	6.320305	38	46	0.041667	1	0	0	0	0	1	0	0	0	--	--		0	A			TEP1_uc010ahk.2_Missense_Mutation_p.A1231V|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.A1780V|TEP1_uc010tlh.1_Missense_Mutation_p.A226V	291	GBM-87-5896-TP	p.A1888V	G	AAGCGCAGCAGCAACAAAGCC	NM_007110	NP_009041	20846241	Q99973	TEP1_HUMAN	0	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	39	5703	-	A	A	all_cancers(95;0.00123)	all_lung(585;0.235)	Missense_Mutation	1888			WD 7.			
TERF2IP	54386	broad.mit.edu	GRCh37	16	75690204	75690206	+	inframe_deletion	In_Frame_Del	DEL	GAA	GAA	-	rs140846731		TCGA-06-5410-01	TCGA-06-5410-01	GAA	GAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300086.4:c.910_912del	p.Glu304del	p.E304del	ENST00000300086	NM_018975.3	299	GAA/-	0			1			-	E/-	uc002fet.1	protein_coding	YES	CCDS32491.1			895-897/1200									central_nervous_system(1)	1	c.(895-897)GAAdel			hmmpanther:PTHR16466,hmmpanther:PTHR16466:SF6,Low_complexity_(Seg):seg	telomeric repeat binding factor 2, interacting				ENSP00000300086		3-Mar	0.0056	0.00568	0.00686	0.00735	0.00587	0.00552	0.00113	0.00406	rs780229998,TMP_ESP_16_75690204_75690206,COSM1479111	3-Mar	common_variant		ENST00000300086	Transcript			negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding	ENSG00000166848	g.chr16:75690204_75690206delGAA	19246	15		MODERATE								--	--	1																																			0,0,1	1			p.E304del	NM_018975	NP_061848			0,0,1	TE2IP_HUMAN	TERF2IP	HGNC	Q9NYB0	TE2IP_HUMAN					3	992_994	+			UPI0000136B77	304			Asp/Glu-rich (acidic).		deletion	TERF2IP,inframe_deletion,p.Glu304del,ENST00000300086,NM_018975.3;TERF2IP,inframe_deletion,p.Glu39del,ENST00000564671,;TERF2IP,3_prime_UTR_variant,,ENST00000569234,;	uc002fet.1	c.895_897delGAA	992-994/2118	5	5			c.895_897delGAA						16	DEL	c.(895-897)GAAdel	56	56			central_nervous_system(1)	1	Broad	telomeric repeat binding factor 2, interacting			75690206		0.369	ENSG00000166848	15519	g.chr16:75690204_75690206delGAA	negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding																				0.06	1	1	0	1	0	0	0	0	0	--	--		0	-				93	GBM-06-5410-TP	p.E304del	GAA	TGATgaggaggaagaagaagaag	NM_018975	NP_061848	75690204	Q9NYB0	TE2IP_HUMAN	0			3	992_994	+	-	-			In_Frame_Del	304			Asp/Glu-rich (acidic).			
TERT	7015	broad.mit.edu	GRCh37	5	1279521	1279521	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01	TCGA-06-2565-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310581.5:c.2015G>A	p.Arg672His	p.R672H	ENST00000310581	NM_198253.2	672	cGc/cAc	0			1			T	R/H	uc003jcb.1	protein_coding	YES	CCDS3861.2			2015/3399								p.R672H(1)	lung(7)|ovary(2)|central_nervous_system(2)|skin(1)	12	c.(2014-2016)CGC>CAC			PROSITE_profiles:PS50878,hmmpanther:PTHR12066:SF0,hmmpanther:PTHR12066	telomerase reverse transcriptase isoform 1				ENSP00000309572		16-May									COSM3409707,COSM35456	16-May	.	TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic	ENST00000310581	Transcript	1		anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	ENSG00000164362	g.chr5:1279521C>T	11730			MODERATE		0.185	neutral	getma.org/?cm=msa&ty=f&p=TERT_HUMAN&rb=605&re=935&var=R672H	NA	getma.org/?cm=var&var=hg19,5,1279521,C,T&fts=all	R672H	--	--	1																																		TERT_uc003jbz.1_5'UTR|TERT_uc003jca.1_Missense_Mutation_p.R672H|TERT_uc003jcc.1_Missense_Mutation_p.R672H|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA	1,1	1		benign(0.008)	p.R672H	NM_198253	NP_937983		tolerated(0.37)	1,1	TERT_HUMAN	TERT	HGNC	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Q9UNS6_HUMAN,Q9UNR4_HUMAN,Q9UBR6_HUMAN		5	2073	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		UPI0000031309	672			Reverse transcriptase.		SNV	TERT,missense_variant,p.Arg672His,ENST00000310581,NM_198253.2,NM_001193376.1;TERT,missense_variant,p.Arg672His,ENST00000296820,;TERT,missense_variant,p.Arg672His,ENST00000334602,;TERT,missense_variant,p.Arg672His,ENST00000508104,;TERT,missense_variant,p.Arg672His,ENST00000460137,;TERT,non_coding_transcript_exon_variant,,ENST00000484238,;	uc003jcb.1	c.2015G>A	2073/4018	1	1			c.2015G>A						5	SNP	c.(2014-2016)CGC>CAC	2	2		p.R672H(1)	lung(7)|ovary(2)|central_nervous_system(2)|skin(1)	12	Broad	telomerase reverse transcriptase isoform 1			1279521	TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic	0.697	ENSG00000164362	15520	g.chr5:1279521C>T	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			563			563	6.45073	KEEP	1	1	-1	2	1	1	1	-1	6.450716	2	1	0.5	1	0	0	0	0	1	0	0	0	--	--		0	T			TERT_uc003jbz.1_5'UTR|TERT_uc003jca.1_Missense_Mutation_p.R672H|TERT_uc003jcc.1_Missense_Mutation_p.R672H|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA	88	GBM-06-2565-TP	p.R672H	C	GAGGCCGGGGCGCCGCGCCCG	NM_198253	NP_937983	1279521	O14746	TERT_HUMAN	0	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		5	2073	-	T	T	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Missense_Mutation	672			Reverse transcriptase.			
TES	26136	broad.mit.edu	GRCh37	7	115889085	115889085	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01	TCGA-06-0214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358204.4:c.125G>A	p.Arg42His	p.R42H	ENST00000358204	NM_015641.3	42	cGt/cAt	0			1			A	R/H	uc003vho.2	protein_coding	YES	CCDS5763.1			125/1266										0	c.(124-126)CGT>CAT			hmmpanther:PTHR24211:SF1,hmmpanther:PTHR24211	testin isoform 1				ENSP00000350937		7-Mar	4.94E-05		9.17E-05			6.69E-05		8.38E-05	rs768227554,COSM3256822,COSM3256823	7-Mar	.		ENST00000358204	Transcript			negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding	ENSG00000135269	g.chr7:115889085G>A	14620			MODERATE		2.65	medium	getma.org/?cm=msa&ty=f&p=TES_HUMAN&rb=1&re=90&var=R42H	NA	getma.org/?cm=var&var=hg19,7,115889085,G,A&fts=all	R42H	--	--	1																																		TES_uc011kmx.1_Missense_Mutation_p.R42H|TES_uc011kmy.1_Intron|TES_uc010lka.1_Missense_Mutation_p.R33H|TES_uc003vhp.2_Missense_Mutation_p.R33H	0,1,1	1		probably_damaging(0.961)	p.R42H	NM_015641	NP_056456		deleterious(0.03)	0,1,1	TES_HUMAN	TES	HGNC	Q9UGI8	TES_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		A4D0U5_HUMAN,Q9Y423_HUMAN,F8W7T0_HUMAN,B7Z6L5_HUMAN		3	306	+	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	UPI0000136BF9	42			Cys-rich.		SNV	TES,missense_variant,p.Arg42His,ENST00000358204,NM_015641.3;TES,missense_variant,p.Arg33His,ENST00000393481,NM_152829.2;TES,5_prime_UTR_variant,,ENST00000455989,;TES,intron_variant,,ENST00000537767,;TES,upstream_gene_variant,,ENST00000393484,;AC073130.3,intron_variant,,ENST00000444244,;AC002066.1,intron_variant,,ENST00000446355,;TES,non_coding_transcript_exon_variant,,ENST00000485009,;TES,non_coding_transcript_exon_variant,,ENST00000496871,;TES,upstream_gene_variant,,ENST00000463746,;TES,upstream_gene_variant,,ENST00000494384,;TES,non_coding_transcript_exon_variant,,ENST00000461440,;TES,intron_variant,,ENST00000492891,;TES,upstream_gene_variant,,ENST00000496912,;	uc003vho.2	c.125G>A	340/2782	1	1			c.125G>A						7	SNP	c.(124-126)CGT>CAT	55	55				0	Broad	testin isoform 1			115889085		0.313	ENSG00000135269	15521	g.chr7:115889085G>A	negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding							-8.66369	KEEP	3	2	-1	44	34	3	2	-1	8.239174	44	34	0.050633	1	0	0	0	0	1	0	0	0	--	--		0	A			TES_uc011kmx.1_Missense_Mutation_p.R42H|TES_uc011kmy.1_Intron|TES_uc010lka.1_Missense_Mutation_p.R33H|TES_uc003vhp.2_Missense_Mutation_p.R33H	50	GBM-06-0214-TP	p.R42H	G	AAAATATGTCGTAACTGCAAG	NM_015641	NP_056456	115889085	Q9UGI8	TES_HUMAN	0	STAD - Stomach adenocarcinoma(10;0.00878)		3	306	+	A	A	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	Missense_Mutation	42			Cys-rich.			
TES	0	broad.mit.edu	GRCh37	7	115892026	115892026	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358204.4:c.915C>T	p.Asp305=	p.D305=	ENST00000358204	NM_015641.3	305	gaC/gaT	0			1			T	D	uc003vho.2	protein_coding	YES	CCDS5763.1			915/1266										0	c.(913-915)GAC>GAT			PROSITE_profiles:PS50023,hmmpanther:PTHR24211:SF1,hmmpanther:PTHR24211,PROSITE_patterns:PS00478,Gene3D:2.10.110.10,Pfam_domain:PF00412,SMART_domains:SM00132,Superfamily_domains:SSF57716	testin isoform 1				ENSP00000350937		7-May	8.24E-06		8.66E-05						rs201867376,COSM3411509,COSM3411510	7-May	.		ENST00000358204	Transcript			negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding	ENSG00000135269	g.chr7:115892026C>T	14620			LOW								--	--	1																																		TES_uc011kmy.1_Silent_p.D63D|TES_uc003vhp.2_Silent_p.D296D|uc003vhq.1_5'Flank	0,1,1	1			p.D305D	NM_015641	NP_056456			0,1,1	TES_HUMAN	TES	HGNC	Q9UGI8	TES_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		A4D0U5_HUMAN,Q9Y423_HUMAN,F8W7T0_HUMAN,B7Z6L5_HUMAN		5	1096	+	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	UPI0000136BF9	305			LIM zinc-binding 2.		SNV	TES,synonymous_variant,p.=,ENST00000358204,NM_015641.3;TES,synonymous_variant,p.=,ENST00000393481,NM_152829.2;TES,synonymous_variant,p.=,ENST00000537767,;TES,synonymous_variant,p.=,ENST00000393484,;TES,downstream_gene_variant,,ENST00000455989,;AC073130.3,intron_variant,,ENST00000444244,;AC002066.1,intron_variant,,ENST00000446355,;TES,non_coding_transcript_exon_variant,,ENST00000463746,;TES,intron_variant,,ENST00000494384,;TES,downstream_gene_variant,,ENST00000485009,;TES,downstream_gene_variant,,ENST00000496871,;TES,3_prime_UTR_variant,,ENST00000492891,;TES,non_coding_transcript_exon_variant,,ENST00000496912,;TES,downstream_gene_variant,,ENST00000461440,;	uc003vho.2	c.915C>T	1130/2782	1	1			c.915C>T						7	SNP	c.(913-915)GAC>GAT	15	15				0	Broad	testin isoform 1			115892026		0.478	ENSG00000135269	15521	g.chr7:115892026C>T	negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding							48.753934	KEEP	8	14	-1	41	39	8	14	-1	56.11315	41	39	0.210526	1	0	0	0	0	0	0	1	0	--	--		0	T			TES_uc011kmy.1_Silent_p.D63D|TES_uc003vhp.2_Silent_p.D296D|uc003vhq.1_5'Flank	207	GBM-28-1753-TP	p.D305D	C	CTGGCTGTGACGAGGTATGTT	NM_015641	NP_056456	115892026	Q9UGI8	TES_HUMAN	0	STAD - Stomach adenocarcinoma(10;0.00878)		5	1096	+	T	T	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	Silent	305			LIM zinc-binding 2.			
TES	0	broad.mit.edu	GRCh37	7	115889244	115889244	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01	TCGA-32-2634-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358204.4:c.284C>T	p.Thr95Met	p.T95M	ENST00000358204	NM_015641.3	95	aCg/aTg	0			1			T	T/M	uc003vho.2	protein_coding	YES	CCDS5763.1			284/1266										0	c.(283-285)ACG>ATG			PROSITE_profiles:PS51303,hmmpanther:PTHR24211:SF1,hmmpanther:PTHR24211,Pfam_domain:PF06297	testin isoform 1				ENSP00000350937		7-Mar	8.24E-06					1.50E-05			rs750864842,COSM1084341,COSM1084342	7-Mar	.		ENST00000358204	Transcript			negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding	ENSG00000135269	g.chr7:115889244C>T	14620			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=TES_HUMAN&rb=91&re=196&var=T95M	NA	getma.org/?cm=var&var=hg19,7,115889244,C,T&fts=all	T95M	--	--	1																																		TES_uc011kmx.1_Missense_Mutation_p.T95M|TES_uc011kmy.1_Intron|TES_uc010lka.1_Missense_Mutation_p.T86M|TES_uc003vhp.2_Missense_Mutation_p.T86M	0,1,1	1		probably_damaging(0.912)	p.T95M	NM_015641	NP_056456		deleterious(0)	0,1,1	TES_HUMAN	TES	HGNC	Q9UGI8	TES_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		A4D0U5_HUMAN,Q9Y423_HUMAN,F8W7T0_HUMAN,B7Z6L5_HUMAN		3	465	+	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	UPI0000136BF9	95			PET.		SNV	TES,missense_variant,p.Thr95Met,ENST00000358204,NM_015641.3;TES,missense_variant,p.Thr86Met,ENST00000393481,NM_152829.2;TES,missense_variant,p.Thr10Met,ENST00000455989,;TES,intron_variant,,ENST00000537767,;TES,upstream_gene_variant,,ENST00000393484,;AC073130.3,intron_variant,,ENST00000444244,;AC002066.1,intron_variant,,ENST00000446355,;TES,non_coding_transcript_exon_variant,,ENST00000485009,;TES,non_coding_transcript_exon_variant,,ENST00000496871,;TES,upstream_gene_variant,,ENST00000463746,;TES,upstream_gene_variant,,ENST00000494384,;TES,non_coding_transcript_exon_variant,,ENST00000461440,;TES,intron_variant,,ENST00000492891,;TES,upstream_gene_variant,,ENST00000496912,;	uc003vho.2	c.284C>T	499/2782	1	1			c.284C>T						7	SNP	c.(283-285)ACG>ATG	13	13				0	Broad	testin isoform 1			115889244		0.393	ENSG00000135269	15521	g.chr7:115889244C>T	negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding							-37.028767	KEEP	2	3	-1	104	87	2	3	-1	8.332895	104	87	0.027174	1	0	0	0	0	1	0	0	0	--	--		0	T			TES_uc011kmx.1_Missense_Mutation_p.T95M|TES_uc011kmy.1_Intron|TES_uc010lka.1_Missense_Mutation_p.T86M|TES_uc003vhp.2_Missense_Mutation_p.T86M	241	GBM-32-2634-TP	p.T95M	C	ATGATATTGACGAATCCAGTT	NM_015641	NP_056456	115889244	Q9UGI8	TES_HUMAN	0	STAD - Stomach adenocarcinoma(10;0.00878)		3	465	+	T	T	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	Missense_Mutation	95			PET.			
TESC	0	broad.mit.edu	GRCh37	12	117486887	117486887	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01	TCGA-32-4213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335209.7:c.286C>T	p.Arg96Trp	p.R96W	ENST00000335209		96	Cgg/Tgg	0			1			A	R/W	uc001twh.2	protein_coding	YES	CCDS9183.3			286/645										0	c.(445-447)CGG>TGG			Superfamily_domains:SSF47473,Gene3D:1.10.238.10,hmmpanther:PTHR23056,hmmpanther:PTHR23056:SF2	tescalcin				ENSP00000334785		8-Apr	8.24E-06							6.06E-05	rs776122247,COSM3398399	8-Apr	.		ENST00000335209	Transcript			negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin	cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle	calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding	ENSG00000088992	g.chr12:117486887G>A	26065			MODERATE		2.87	medium	getma.org/?cm=msa&ty=f&p=TESC_HUMAN&rb=1&re=113&var=R96W	getma.org/pdb.php?prot=TESC_HUMAN&from=1&to=113&var=R96W	getma.org/?cm=var&var=hg19,12,117486887,G,A&fts=all	R96W	--	--	1																																		TESC_uc001twi.2_RNA	0,1	1		probably_damaging(0.997)	p.R149W	NM_017899	NP_060369		deleterious(0.02)	0,1	CHP3_HUMAN	TESC	HGNC	Q96BS2	TESC_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0297)			4	450	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		UPI0000136BF7	96					SNV	TESC,missense_variant,p.Arg96Trp,ENST00000335209,;TESC,missense_variant,p.Arg149Trp,ENST00000392545,NM_017899.3;TESC,missense_variant,p.Arg69Trp,ENST00000541210,NM_001168325.1;TESC,upstream_gene_variant,,ENST00000549210,;TESC,non_coding_transcript_exon_variant,,ENST00000535198,;TESC,missense_variant,p.Arg96Trp,ENST00000470612,;TESC,missense_variant,p.Arg96Trp,ENST00000462502,;TESC,non_coding_transcript_exon_variant,,ENST00000482176,;	uc001twh.2	c.445C>T	473/1041	1	1			c.445C>T						12	SNP	c.(445-447)CGG>TGG	60	60				0	Broad	tescalcin			117486887		0.587	ENSG00000088992	15522	g.chr12:117486887G>A	negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin	cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle	calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding							-25.081577	KEEP	2	1	-1	64	65	2	1	-1	6.391885	64	65	0.024	1	0	0	0	0	1	0	0	0	--	--		0	A			TESC_uc001twi.2_RNA	247	GBM-32-4213-TP	p.R149W	G	TCGATGGGCCGGAAGTAGGAC	NM_017899	NP_060369	117486887	Q96BS2	TESC_HUMAN	0		BRCA - Breast invasive adenocarcinoma(302;0.0297)	4	450	-	A	A	all_neural(191;0.117)|Medulloblastoma(191;0.163)		Missense_Mutation	96						
TESK1	7016	broad.mit.edu	GRCh37	9	35606965	35606965	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0221-01	TCGA-06-0221-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336395.5:c.522C>T	p.Arg174=	p.R174=	ENST00000336395	NM_006285.2	174	cgC/cgT	0			1			T	R	uc003zxa.2	protein_coding	YES	CCDS6580.1			522/1881									stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7	c.(520-522)CGC>CGT			PROSITE_profiles:PS50011,hmmpanther:PTHR23257:SF372,hmmpanther:PTHR23257,PROSITE_patterns:PS00109,Gene3D:1.10.510.10,Pfam_domain:PF00069,Superfamily_domains:SSF56112,Prints_domain:PR00109	testis-specific protein kinase 1				ENSP00000338127		10-Apr									COSM2151018	10-Apr	.		ENST00000336395	Transcript			cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000107140	g.chr9:35606965C>T	11731			LOW								--	--	1																																		TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Missense_Mutation_p.A42V	1	1			p.R174R	NM_006285	NP_006276			1	TESK1_HUMAN	TESK1	HGNC	Q15569	TESK1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Q8NFJ2_HUMAN,Q8NFE2_HUMAN,Q8NFE1_HUMAN,Q8N6A2_HUMAN,B4DQQ3_HUMAN		4	858	+			UPI0000074302	174			Protein kinase.		SNV	TESK1,synonymous_variant,p.=,ENST00000336395,NM_006285.2;CD72,downstream_gene_variant,,ENST00000396757,;CD72,downstream_gene_variant,,ENST00000259633,NM_001782.2;MIR4667,upstream_gene_variant,,ENST00000578933,;TESK1,non_coding_transcript_exon_variant,,ENST00000498522,;CD72,downstream_gene_variant,,ENST00000490239,;TESK1,upstream_gene_variant,,ENST00000467424,;TESK1,upstream_gene_variant,,ENST00000463897,;TESK1,upstream_gene_variant,,ENST00000480077,;	uc003zxa.2	c.522C>T	772/2421	2	2			c.522C>T						9	SNP	c.(520-522)CGC>CGT	44	44			stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7	Broad	testis-specific protein kinase 1			35606965		0.567	ENSG00000107140	15523	g.chr9:35606965C>T	cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			56			56	37.280501	KEEP	6	7	-1	16	13	6	7	-1	37.994119	16	13	0.351351	1	0	0	0	0	0	0	1	0	--	--		0	T			TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Missense_Mutation_p.A42V	53	GBM-06-0221-TP	p.R174R	C	TATTTCACCGCGACCTCACAT	NM_006285	NP_006276	35606965	Q15569	TESK1_HUMAN	0	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		4	858	+	T	T			Silent	174			Protein kinase.			
TESK1	7016	broad.mit.edu	GRCh37	9	35609460	35609460	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336395.5:c.1602G>A	p.Trp534Ter	p.W534*	ENST00000336395	NM_006285.2	534	tgG/tgA	0			1			A	W/*	uc003zxa.2	protein_coding	YES	CCDS6580.1			1602/1881									stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7	c.(1600-1602)TGG>TGA				testis-specific protein kinase 1				ENSP00000338127		10-Oct									COSM2152208	10-Oct	.		ENST00000336395	Transcript			cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000107140	g.chr9:35609460G>A	11731			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,9,35609460,G,A&fts=all	W534*	--	--	1																																		TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Nonsense_Mutation_p.W374*	1	1			p.W534*	NM_006285	NP_006276			1	TESK1_HUMAN	TESK1	HGNC	Q15569	TESK1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Q8NFJ2_HUMAN,Q8NFE2_HUMAN,Q8NFE1_HUMAN,Q8N6A2_HUMAN,B4DQQ3_HUMAN		10	1938	+			UPI0000074302	534					SNV	TESK1,stop_gained,p.Trp534Ter,ENST00000336395,NM_006285.2;CD72,downstream_gene_variant,,ENST00000396757,;CD72,downstream_gene_variant,,ENST00000259633,NM_001782.2;MIR4667,downstream_gene_variant,,ENST00000578933,;TESK1,non_coding_transcript_exon_variant,,ENST00000498522,;CD72,downstream_gene_variant,,ENST00000490239,;TESK1,downstream_gene_variant,,ENST00000467424,;TESK1,downstream_gene_variant,,ENST00000463897,;TESK1,downstream_gene_variant,,ENST00000480077,;	uc003zxa.2	c.1602G>A	1852/2421	5	2			c.1602G>A						9	SNP	c.(1600-1602)TGG>TGA	22	22			stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7	Broad	testis-specific protein kinase 1			35609460		0.692	ENSG00000107140	15523	g.chr9:35609460G>A	cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			56			56	81.31612	KEEP	15	15	-1	19	27	15	15	-1	81.866044	19	27	0.402985	1	0	0	0	0	0	1	0	0	--	--		0	A			TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Nonsense_Mutation_p.W374*	73	GBM-06-0877-TP	p.W534*	G	GGGAGCCCTGGAACCGGGCCC	NM_006285	NP_006276	35609460	Q15569	TESK1_HUMAN	0	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		10	1938	+	A	A			Nonsense_Mutation	534						
TESK1	0	broad.mit.edu	GRCh37	9	35609198	35609198	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336395.5:c.1340G>A	p.Arg447His	p.R447H	ENST00000336395	NM_006285.2	447	cGt/cAt	0			1			A	R/H	uc003zxa.2	protein_coding	YES	CCDS6580.1			1340/1881									stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7	c.(1339-1341)CGT>CAT			hmmpanther:PTHR23257:SF372,hmmpanther:PTHR23257	testis-specific protein kinase 1				ENSP00000338127		10-Oct	4.94E-05				0.000151	1.52E-05	0.00111	0.000182	rs764988346,COSM3413643	10-Oct	.		ENST00000336395	Transcript			cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000107140	g.chr9:35609198G>A	11731			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=TESK1_HUMAN&rb=312&re=450&var=R447H	NA	getma.org/?cm=var&var=hg19,9,35609198,G,A&fts=all	R447H	--	--	1																																		TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Missense_Mutation_p.R287H	0,1	1		probably_damaging(0.943)	p.R447H	NM_006285	NP_006276		tolerated(0.27)	0,1	TESK1_HUMAN	TESK1	HGNC	Q15569	TESK1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Q8NFJ2_HUMAN,Q8NFE2_HUMAN,Q8NFE1_HUMAN,Q8N6A2_HUMAN,B4DQQ3_HUMAN		10	1676	+			UPI0000074302	447					SNV	TESK1,missense_variant,p.Arg447His,ENST00000336395,NM_006285.2;CD72,downstream_gene_variant,,ENST00000396757,;CD72,downstream_gene_variant,,ENST00000259633,NM_001782.2;MIR4667,downstream_gene_variant,,ENST00000578933,;TESK1,non_coding_transcript_exon_variant,,ENST00000498522,;CD72,downstream_gene_variant,,ENST00000490239,;TESK1,downstream_gene_variant,,ENST00000467424,;TESK1,downstream_gene_variant,,ENST00000463897,;TESK1,downstream_gene_variant,,ENST00000480077,;	uc003zxa.2	c.1340G>A	1590/2421	1	1			c.1340G>A						9	SNP	c.(1339-1341)CGT>CAT	59	59			stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7	Broad	testis-specific protein kinase 1			35609198		0.687	ENSG00000107140	15523	g.chr9:35609198G>A	cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			56			56	134.698729	KEEP	30	35	-1	60	51	30	35	-1	134.809294	60	51	0.463158	1	0	0	0	0	1	0	0	0	--	--		0	A			TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Missense_Mutation_p.R287H	125	GBM-12-3649-TP	p.R447H	G	CTCCCCCGCCGTATGGAGACA	NM_006285	NP_006276	35609198	Q15569	TESK1_HUMAN	0	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		10	1676	+	A	A			Missense_Mutation	447						
TESK2	10420	broad.mit.edu	GRCh37	1	45923297	45923297	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01	TCGA-06-0155-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372086.3:c.161C>T	p.Thr54Met	p.T54M	ENST00000372086	NM_007170.2	54	aCg/aTg	0			1			A	T/M	uc001cns.1	protein_coding	YES	CCDS41323.1			161/1716									ovary(2)|breast(2)|pancreas(1)	5	c.(160-162)ACG>ATG			hmmpanther:PTHR23257:SF383,hmmpanther:PTHR23257	testis-specific protein kinase 2				ENSP00000361158		11-Feb	2.48E-05		8.66E-05					0.000121	rs749944438,COSM2190522	11-Feb	.		ENST00000372086	Transcript			actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000070759	g.chr1:45923297G>A	11732			MODERATE		0.625	neutral	getma.org/?cm=msa&ty=f&p=TESK2_HUMAN&rb=1&re=58&var=T54M	NA	getma.org/?cm=var&var=hg19,1,45923297,G,A&fts=all	T54M	--	--	1																																		TESK2_uc009vxr.1_Missense_Mutation_p.T54M|TESK2_uc010olo.1_Intron|TESK2_uc009vxs.1_Translation_Start_Site|TESK2_uc010olp.1_Missense_Mutation_p.T54M	0,1	1		probably_damaging(0.985)	p.T54M	NM_007170	NP_009101		deleterious(0.02)	0,1	TESK2_HUMAN	TESK2	HGNC	Q96S53	TESK2_HUMAN			F5GWP9_HUMAN,D3DPZ7_HUMAN		2	564	-	Acute lymphoblastic leukemia(166;0.155)		UPI000004073A	54					SNV	TESK2,missense_variant,p.Thr54Met,ENST00000372086,NM_007170.2;TESK2,missense_variant,p.Thr54Met,ENST00000341771,;TESK2,missense_variant,p.Thr54Met,ENST00000372084,;TESK2,missense_variant,p.Thr54Met,ENST00000451835,;TESK2,intron_variant,,ENST00000538496,;TESK2,non_coding_transcript_exon_variant,,ENST00000486676,;TESK2,upstream_gene_variant,,ENST00000493974,;	uc001cns.1	c.161C>T	562/3074	1	1			c.161C>T						1	SNP	c.(160-162)ACG>ATG	64	64			ovary(2)|breast(2)|pancreas(1)	5	Broad	testis-specific protein kinase 2			45923297		0.453	ENSG00000070759	15524	g.chr1:45923297G>A	actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			192			192	-22.270723	KEEP	7	3	-1	79	109	7	3	-1	16.949725	79	109	0.049451	1	0	0	0	0	1	0	0	0	--	--		0	A			TESK2_uc009vxr.1_Missense_Mutation_p.T54M|TESK2_uc010olo.1_Intron|TESK2_uc009vxs.1_Translation_Start_Site|TESK2_uc010olp.1_Missense_Mutation_p.T54M	27	GBM-06-0155-TP	p.T54M	G	ATCCAAACGCGTCAGTCTGGA	NM_007170	NP_009101	45923297	Q96S53	TESK2_HUMAN	0			2	564	-	A	A	Acute lymphoblastic leukemia(166;0.155)		Missense_Mutation	54						
TESPA1	0	broad.mit.edu	GRCh37	12	55356553	55356553	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01	TCGA-27-2527-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316577.8:c.1129G>A	p.Ala377Thr	p.A377T	ENST00000316577	NM_001098815.2	377	Gca/Aca	0			1			T	A/T	uc001sgn.3	protein_coding		CCDS44913.1			1129/1566								p.T377N(1)	ovary(1)|central_nervous_system(1)	2	c.(1129-1131)GCA>ACA			hmmpanther:PTHR17469,hmmpanther:PTHR17469:SF1	hypothetical protein LOC9840				ENSP00000312679		11-Sep									COSM1934192,COSM1934191	11-Sep	.		ENST00000316577	Transcript						ENSG00000135426	g.chr12:55356553C>T	29109			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=K0748_HUMAN&rb=302&re=517&var=A377T	NA	getma.org/?cm=var&var=hg19,12,55356553,C,T&fts=all	A377T	--	--	1																																		KIAA0748_uc001sgl.3_Missense_Mutation_p.A239T|KIAA0748_uc001sgm.3_Missense_Mutation_p.A124T|KIAA0748_uc010spb.1_Missense_Mutation_p.A124T|KIAA0748_uc010spc.1_Missense_Mutation_p.A239T|KIAA0748_uc010spd.1_Missense_Mutation_p.A377T|KIAA0748_uc001sgo.3_RNA	1,1			benign(0.023)	p.A377T	NM_001098815	NP_001092285		tolerated_low_confidence(0.38)	1,1	TESP1_HUMAN	TESPA1	HGNC	A2RU30	K0748_HUMAN			E9PN46_HUMAN,E9PM24_HUMAN,E9PIT9_HUMAN,E9PIN8_HUMAN,E9PHY9_HUMAN,B4DHC1_HUMAN		9	1239	-			UPI00001FC438	377					SNV	TESPA1,missense_variant,p.Ala239Thr,ENST00000524622,NM_014796.2,NM_001261844.1;TESPA1,missense_variant,p.Ala377Thr,ENST00000449076,NM_001136030.2;TESPA1,missense_variant,p.Ala239Thr,ENST00000532804,;TESPA1,missense_variant,p.Ala377Thr,ENST00000316577,NM_001098815.2;TESPA1,missense_variant,p.Ala239Thr,ENST00000531122,;TESPA1,intron_variant,,ENST00000532757,;TESPA1,downstream_gene_variant,,ENST00000526532,;TESPA1,upstream_gene_variant,,ENST00000528240,;TESPA1,downstream_gene_variant,,ENST00000533446,;TESPA1,downstream_gene_variant,,ENST00000524959,;TESPA1,3_prime_UTR_variant,,ENST00000524923,;TESPA1,downstream_gene_variant,,ENST00000525978,;	uc001sgn.3	c.1129G>A	1239/1898	1	1			c.1129G>A						12	SNP	c.(1129-1131)GCA>ACA	2	2		p.T377N(1)	ovary(1)|central_nervous_system(1)	2	Broad	hypothetical protein LOC9840			55356553		0.527	ENSG00000135426	8051	g.chr12:55356553C>T										31.894481	KEEP	5	14	-1	46	57	5	14	-1	45.8233	46	57	0.146552	1	0	0	0	0	1	0	0	0	--	--		0	T			KIAA0748_uc001sgl.3_Missense_Mutation_p.A239T|KIAA0748_uc001sgm.3_Missense_Mutation_p.A124T|KIAA0748_uc010spb.1_Missense_Mutation_p.A124T|KIAA0748_uc010spc.1_Missense_Mutation_p.A239T|KIAA0748_uc010spd.1_Missense_Mutation_p.A377T|KIAA0748_uc001sgo.3_RNA	204	GBM-27-2527-TP	p.A377T	C	TGGGATGGTGCTAGCACTGTG	NM_001098815	NP_001092285	55356553	A2RU30	K0748_HUMAN	0			9	1239	-	T	T			Missense_Mutation	377						
TET1	80312		GRCh37	10	70332622	70332622	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000373644.4:c.527A>G	p.Gln176Arg	p.Q176R	ENST00000373644	NM_030625.2	176	cAa/cGa	0																																																																																																																																																																																																																																												
TET2	0	broad.mit.edu	GRCh37	4	106158045	106158045	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-14-0813-01	TCGA-14-0813-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380013.4:c.2946G>C	p.Lys982Asn	p.K982N	ENST00000380013	NM_001127208.2	982	aaG/aaC	0			1			C	K/N	uc003hxk.2	protein_coding		CCDS47120.1			2946/6009	Mis N|F				MDS				haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733	c.(2944-2946)AAG>AAC			hmmpanther:PTHR23358,hmmpanther:PTHR23358:SF3	tet oncogene family member 2 isoform a				ENSP00000369351		11-Mar									COSM3408967,COSM3408966	11-Mar	.		ENST00000380013	Transcript	1		cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	ENSG00000168769	g.chr4:106158045G>C	25941			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=TET2_HUMAN&rb=801&re=1000&var=K982N	NA	getma.org/?cm=var&var=hg19,4,106158045,G,C&fts=all	K982N	--	--	1																																		TET2_uc011cez.1_Missense_Mutation_p.K1003N|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.K982N|TET2_uc003hxi.1_Missense_Mutation_p.K982N	1,1			probably_damaging(1)	p.K982N	NM_001127208	NP_001120680		deleterious(0.01)	1,1	TET2_HUMAN	TET2	HGNC	Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	E7EPB1_HUMAN,D6RE87_HUMAN		3	3332	+		Myeloproliferative disorder(5;0.0393)	UPI00001D75E4	982					SNV	TET2,missense_variant,p.Lys1003Asn,ENST00000513237,;TET2,missense_variant,p.Lys982Asn,ENST00000540549,;TET2,missense_variant,p.Lys982Asn,ENST00000545826,;TET2,missense_variant,p.Lys982Asn,ENST00000380013,NM_001127208.2;TET2,missense_variant,p.Lys982Asn,ENST00000305737,NM_017628.4;TET2,missense_variant,p.Lys982Asn,ENST00000394764,;TET2,missense_variant,p.Lys982Asn,ENST00000413648,;TET2,downstream_gene_variant,,ENST00000514870,;TET2,missense_variant,p.Lys982Asn,ENST00000265149,;	uc003hxk.2	c.2946G>C	3332/9679	3	3			c.2946G>C	Mis N|F				MDS	4	SNP	c.(2944-2946)AAG>AAC	5	5			haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733	Broad	tet oncogene family member 2 isoform a			106158045		0.473	ENSG00000168769	15526	g.chr4:106158045G>C	cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			111			111	-7.767375	KEEP	2	2	-1	34	48	2	2	-1	8.308226	34	48	0.052632	1	0	0	0	0	1	0	0	0	--	--		0	C			TET2_uc011cez.1_Missense_Mutation_p.K1003N|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.K982N|TET2_uc003hxi.1_Missense_Mutation_p.K982N	138	GBM-14-0813-TP	p.K982N	G	GGCCAATTAAGGTGGAACCTG	NM_001127208	NP_001120680	106158045	Q6N021	TET2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	3332	+	C	C		Myeloproliferative disorder(5;0.0393)	Missense_Mutation	982						
TET2	0	broad.mit.edu	GRCh37	4	106155901	106155901	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-41-2572-01	TCGA-41-2572-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380013.4:c.802T>G	p.Ser268Ala	p.S268A	ENST00000380013	NM_001127208.2	268	Tcg/Gcg	0			1			G	S/A	uc003hxk.2	protein_coding		CCDS47120.1			802/6009	Mis N|F				MDS				haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733	c.(802-804)TCG>GCG			hmmpanther:PTHR23358,hmmpanther:PTHR23358:SF3	tet oncogene family member 2 isoform a				ENSP00000369351		11-Mar									COSM3408965,COSM3408964	11-Mar	.		ENST00000380013	Transcript	1		cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	ENSG00000168769	g.chr4:106155901T>G	25941			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=TET2_HUMAN&rb=201&re=400&var=S268A	NA	getma.org/?cm=var&var=hg19,4,106155901,T,G&fts=all	S268A	--	--	1																																		TET2_uc011cez.1_Missense_Mutation_p.S289A|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.S268A|TET2_uc003hxi.1_Missense_Mutation_p.S268A	1,1			benign(0.025)	p.S268A	NM_001127208	NP_001120680		tolerated(0.1)	1,1	TET2_HUMAN	TET2	HGNC	Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	E7EPB1_HUMAN,D6RE87_HUMAN		3	1188	+		Myeloproliferative disorder(5;0.0393)	UPI00001D75E4	268					SNV	TET2,missense_variant,p.Ser268Ala,ENST00000540549,;TET2,missense_variant,p.Ser289Ala,ENST00000513237,;TET2,missense_variant,p.Ser268Ala,ENST00000545826,;TET2,missense_variant,p.Ser268Ala,ENST00000380013,NM_001127208.2;TET2,missense_variant,p.Ser268Ala,ENST00000305737,NM_017628.4;TET2,missense_variant,p.Ser268Ala,ENST00000394764,;TET2,missense_variant,p.Ser268Ala,ENST00000413648,;TET2,downstream_gene_variant,,ENST00000514870,;TET2,missense_variant,p.Ser268Ala,ENST00000265149,;	uc003hxk.2	c.802T>G	1188/9679	4	4			c.802T>G	Mis N|F				MDS	4	SNP	c.(802-804)TCG>GCG	29	29			haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733	Broad	tet oncogene family member 2 isoform a			106155901		0.498	ENSG00000168769	15526	g.chr4:106155901T>G	cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			111			111	96.103271	KEEP	15	16	-1	31	20	15	16	-1	97.567243	31	20	0.35443	1	0	0	0	0	1	0	0	0	--	--		0	G			TET2_uc011cez.1_Missense_Mutation_p.S289A|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.S268A|TET2_uc003hxi.1_Missense_Mutation_p.S268A	251	GBM-41-2572-TP	p.S268A	T	CACTCACCCATCGCATACCTC	NM_001127208	NP_001120680	106155901	Q6N021	TET2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	1188	+	G	G		Myeloproliferative disorder(5;0.0393)	Missense_Mutation	268						
TET3	200424	broad.mit.edu	GRCh37	2	74275488	74275489	+	frameshift_variant	Frame_Shift_Del	DEL	AC	AC	-			TCGA-06-0749-01	TCGA-06-0749-01	AC	AC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409262.3:c.2043_2044del	p.Pro682CysfsTer22	p.P682Cfs*22	ENST00000409262	NM_144993.1	680	gAC/g	0			1			-	D/X	uc002skb.3	protein_coding	YES	CCDS46339.1			2039-2040/4983										0	c.(2038-2040)GACfs			hmmpanther:PTHR23358,hmmpanther:PTHR23358:SF4	tet oncogene family member 3				ENSP00000386869		9-Jan										9-Jan	.		ENST00000409262	Transcript					metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	ENSG00000187605	g.chr2:74275488_74275489delAC	28313	4		HIGH								--	--	1																																		TET3_uc010fez.1_Frame_Shift_Del_p.D680fs		1			p.D680fs	NM_144993	NP_659430				TET3_HUMAN	TET3	HGNC	O43151	TET3_HUMAN			K9JJH7_HUMAN		1	2039_2040	+			UPI0000DD79F5	680					deletion	TET3,frameshift_variant,p.Pro682CysfsTer22,ENST00000409262,NM_144993.1,NM_001287491.1;TET3,frameshift_variant,p.Pro724CysfsTer?,ENST00000305799,;TET3,non_coding_transcript_exon_variant,,ENST00000475405,;	uc002skb.3	c.2039_2040delAC	2039-2040/10983	5	5			c.2039_2040delAC						2	DEL	c.(2038-2040)GACfs	44	44				0	Broad	tet oncogene family member 3			74275489		0.604	ENSG00000187605	15527	g.chr2:74275488_74275489delAC			metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen																				0.14	1	1	0	1	0	0	0	0	0	--	--		0	-			TET3_uc010fez.1_Frame_Shift_Del_p.D680fs	69	GBM-06-0749-TP	p.D680fs	AC	AGTCTGCTGGACACACCTGCCA	NM_144993	NP_659430	74275488	O43151	TET3_HUMAN	0			1	2039_2040	+	-	-			Frame_Shift_Del	680						
TET3	0	broad.mit.edu	GRCh37	2	74274539	74274539	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1825-01	TCGA-14-1825-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409262.3:c.1090C>T	p.Pro364Ser	p.P364S	ENST00000409262	NM_144993.1	364	Ccg/Tcg	0			1			T	P/S	uc002skb.3	protein_coding	YES	CCDS46339.1			1090/4983										0	c.(1090-1092)CCG>TCG			hmmpanther:PTHR23358,hmmpanther:PTHR23358:SF4,Low_complexity_(Seg):seg	tet oncogene family member 3				ENSP00000386869		9-Jan									COSM3407977	9-Jan	.		ENST00000409262	Transcript					metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	ENSG00000187605	g.chr2:74274539C>T	28313			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TET3_HUMAN&rb=201&re=400&var=P364S	NA	getma.org/?cm=var&var=hg19,2,74274539,C,T&fts=all	P364S	--	--	1																																		TET3_uc010fez.1_Missense_Mutation_p.P364S	1	1		benign(0.001)	p.P364S	NM_144993	NP_659430		tolerated(0.11)	1	TET3_HUMAN	TET3	HGNC	O43151	TET3_HUMAN			K9JJH7_HUMAN		1	1090	+			UPI0000DD79F5	364					SNV	TET3,missense_variant,p.Pro364Ser,ENST00000409262,NM_144993.1,NM_001287491.1;TET3,missense_variant,p.Pro406Ser,ENST00000305799,;TET3,non_coding_transcript_exon_variant,,ENST00000475405,;	uc002skb.3	c.1090C>T	1090/10983	2	2			c.1090C>T						2	SNP	c.(1090-1092)CCG>TCG	42	42				0	Broad	tet oncogene family member 3			74274539		0.652	ENSG00000187605	15527	g.chr2:74274539C>T			metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen							57.151721	KEEP	4	16	-1	6	6	4	16	-1	57.413402	6	6	0.6	1	0	0	0	0	1	0	0	0	--	--		0	T			TET3_uc010fez.1_Missense_Mutation_p.P364S	148	GBM-14-1825-TP	p.P364S	C	CTCTTCCTCCCCGGCCCCGGC	NM_144993	NP_659430	74274539	O43151	TET3_HUMAN	0			1	1090	+	T	T			Missense_Mutation	364						
TET3	0	broad.mit.edu	GRCh37	2	74328397	74328397	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-2521-01	TCGA-27-2521-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409262.3:c.4077C>T	p.Pro1359=	p.P1359=	ENST00000409262	NM_144993.1	1359	ccC/ccT	0			1			T	P	uc002skb.3	protein_coding	YES	CCDS46339.1			4077/4983										0	c.(4075-4077)CCC>CCT			Pfam_domain:PF12851,hmmpanther:PTHR23358,hmmpanther:PTHR23358:SF4	tet oncogene family member 3				ENSP00000386869		9-Sep	4.97E-05					6.61E-05		0.000129	rs764597295,COSM264007,COSM264008	9-Sep	.		ENST00000409262	Transcript					metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	ENSG00000187605	g.chr2:74328397C>T	28313			LOW								--	--	1																																			0,1,1	1			p.P1359P	NM_144993	NP_659430			0,1,1	TET3_HUMAN	TET3	HGNC	O43151	TET3_HUMAN			K9JJH7_HUMAN		9	4077	+			UPI0000DD79F5	1359					SNV	TET3,synonymous_variant,p.=,ENST00000409262,NM_144993.1,NM_001287491.1;	uc002skb.3	c.4077C>T	4077/10983	2	2			c.4077C>T						2	SNP	c.(4075-4077)CCC>CCT	38	38				0	Broad	tet oncogene family member 3			74328397		0.657	ENSG00000187605	15527	g.chr2:74328397C>T			metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen							35.694375	KEEP	7	8	-1	10	6	7	8	-1	35.767203	10	6	0.444444	1	0	0	0	0	0	0	1	0	--	--		0	T				200	GBM-27-2521-TP	p.P1359P	C	GGCTGTTCCCCGGTGAGGGGC	NM_144993	NP_659430	74328397	O43151	TET3_HUMAN	0			9	4077	+	T	T			Silent	1359						
TEX11	56159	broad.mit.edu	GRCh37	X	69902635	69902635	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5412-01	TCGA-06-5412-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395889.2:c.1090C>T	p.Arg364Cys	p.R364C	ENST00000395889	NM_001003811.1	364	Cgt/Tgt	0			1			A	R/C	uc004dyl.2	protein_coding		CCDS35323.1			1090/2823									ovary(3)|breast(1)|skin(1)	5	c.(1090-1092)CGT>TGT			hmmpanther:PTHR22904:SF291,hmmpanther:PTHR22904,Pfam_domain:PF08631	testis expressed sequence 11 isoform 1				ENSP00000340995		13/29	8.24E-06								rs773463882,COSM2153173	13/29	.		ENST00000344304	Transcript	1				protein binding	ENSG00000120498	g.chrX:69902635G>A	11733			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=TEX11_HUMAN&rb=189&re=447&var=R364C	NA	getma.org/?cm=var&var=hg19,X,69902635,G,A&fts=all	R364C	--	--	1																																		TEX11_uc004dyk.2_Missense_Mutation_p.R39C|TEX11_uc004dym.2_Missense_Mutation_p.R349C	0,1			probably_damaging(0.91)	p.R364C	NM_001003811	NP_001003811		deleterious(0)	0,1	TEX11_HUMAN	TEX11	HGNC	Q8IYF3	TEX11_HUMAN					15	1252	-	Renal(35;0.156)		UPI000013CA89	364					SNV	TEX11,missense_variant,p.Arg364Cys,ENST00000395889,NM_001003811.1;TEX11,missense_variant,p.Arg349Cys,ENST00000374333,NM_031276.2;TEX11,missense_variant,p.Arg364Cys,ENST00000344304,;TEX11,missense_variant,p.Arg39Cys,ENST00000374320,;	uc004dyl.2	c.1090C>T	1090/2977	1	1			c.1090C>T						23	SNP	c.(1090-1092)CGT>TGT	51	51			ovary(3)|breast(1)|skin(1)	5	Broad	testis expressed sequence 11 isoform 1			69902635		0.358	ENSG00000120498	15530	g.chrX:69902635G>A			protein binding							17.479023	KEEP	7	3	-1	20	17	7	3	-1	20.826976	20	17	0.2	1	0	0	0	0	1	0	0	0	--	--		0	A			TEX11_uc004dyk.2_Missense_Mutation_p.R39C|TEX11_uc004dym.2_Missense_Mutation_p.R349C	95	GBM-06-5412-TP	p.R364C	G	GACTTAAAACGTTCATGAATA	NM_001003811	NP_001003811	69902635	Q8IYF3	TEX11_HUMAN	0			15	1252	-	A	A	Renal(35;0.156)		Missense_Mutation	364						
TEX11	0	broad.mit.edu	GRCh37	X	69871358	69871358	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-5136-01	TCGA-26-5136-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344304.3:c.1470C>T	p.Asn490=	p.N490=	ENST00000344304		490	aaC/aaT	0			1			A	N	uc004dyl.2	protein_coding		CCDS35323.1			1470/2823									ovary(3)|breast(1)|skin(1)	5	c.(1468-1470)AAC>AAT			hmmpanther:PTHR22904:SF291,hmmpanther:PTHR22904,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452	testis expressed sequence 11 isoform 1				ENSP00000340995		16/29									COSM2157124	16/29	.		ENST00000344304	Transcript	1				protein binding	ENSG00000120498	g.chrX:69871358G>A	11733			LOW								--	--	1																																		TEX11_uc004dyk.2_Silent_p.N165N|TEX11_uc004dym.2_Silent_p.N475N	1				p.N490N	NM_001003811	NP_001003811			1	TEX11_HUMAN	TEX11	HGNC	Q8IYF3	TEX11_HUMAN					18	1632	-	Renal(35;0.156)		UPI000013CA89	490					SNV	TEX11,synonymous_variant,p.=,ENST00000395889,NM_001003811.1;TEX11,synonymous_variant,p.=,ENST00000374333,NM_031276.2;TEX11,synonymous_variant,p.=,ENST00000344304,;TEX11,synonymous_variant,p.=,ENST00000374320,;	uc004dyl.2	c.1470C>T	1470/2977	1	1			c.1470C>T						23	SNP	c.(1468-1470)AAC>AAT	60	60			ovary(3)|breast(1)|skin(1)	5	Broad	testis expressed sequence 11 isoform 1			69871358		0.358	ENSG00000120498	15530	g.chrX:69871358G>A			protein binding							140.420041	KEEP	35	26	-1	58	24	35	26	-1	141.217312	58	24	0.413223	1	0	0	0	0	0	0	1	0	--	--		0	A			TEX11_uc004dyk.2_Silent_p.N165N|TEX11_uc004dym.2_Silent_p.N475N	185	GBM-26-5136-TP	p.N490N	G	GAGTGAAAACGTTCCTAGGGT	NM_001003811	NP_001003811	69871358	Q8IYF3	TEX11_HUMAN	0			18	1632	-	A	A	Renal(35;0.156)		Silent	490						
TEX11	56159		GRCh37	X	69825267	69825267	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000395889.2:c.2096C>A	p.Ser699Ter	p.S699*	ENST00000395889	NM_001003811.1	699	tCa/tAa	0																																																																																																																																																																																																																																												
TEX13A	0	broad.mit.edu	GRCh37	X	104463874	104463874	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0615-01	TCGA-12-0615-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000413579.1:c.1002C>T	p.Ser334=	p.S334=	ENST00000413579		334	tcC/tcT	0			1			A	S	uc004ema.2	protein_coding	YES				1002/1230									ovary(2)	2	c.(1000-1002)TCC>TCT			hmmpanther:PTHR23111,hmmpanther:PTHR23111:SF13	testis expressed sequence 13A				ENSP00000399753		5-May	2.48E-05	0.000126							rs782618693,COSM3405795,COSM3405794	5-May	.		ENST00000413579	Transcript				intracellular	zinc ion binding	ENSG00000133149	g.chrX:104463874G>A	11735			LOW								--	--	1																																		IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.P335L	0,1,1	1			p.S334S	NM_031274	NP_112564			0,1,1	TX13A_HUMAN	TEX13A	HGNC	Q9BXU3	TX13A_HUMAN					5	1114	-			UPI0000042200	334					SNV	TEX13A,missense_variant,p.Pro335Leu,ENST00000372578,NM_031274.3;TEX13A,missense_variant,p.Pro335Leu,ENST00000372575,;TEX13A,synonymous_variant,p.=,ENST00000413579,;IL1RAPL2,intron_variant,,ENST00000372582,NM_017416.1;IL1RAPL2,intron_variant,,ENST00000344799,;	uc004ema.2	c.1002C>T	1114/1374	2	2			c.1002C>T						23	SNP	c.(1000-1002)TCC>TCT	33	33			ovary(2)	2	Broad	testis expressed sequence 13A			104463874		0.537	ENSG00000133149	15532	g.chrX:104463874G>A		intracellular	zinc ion binding							248.336872	KEEP	42	37	-1	42	53	42	37	-1	248.599984	42	53	0.45679	1	0	0	0	0	0	0	1	0	--	--		0	A			IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.P335L	117	GBM-12-0615-TP	p.S334S	G	CCTCCCAGTCGGAAGGCAGCT	NM_031274	NP_112564	104463874	Q9BXU3	TX13A_HUMAN	0			5	1114	-	A	A			Silent	334						
TEX13B	0	broad.mit.edu	GRCh37	X	107224498	107224498	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-4935-01	TCGA-76-4935-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302917.1:c.751G>C	p.Val251Leu	p.V251L	ENST00000302917	NM_031273.2	251	Gtc/Ctc	0			1			G	V/L	uc004enn.1	protein_coding	YES	CCDS14534.1			751/939									ovary(1)	1	c.(751-753)GTC>CTC			hmmpanther:PTHR23111,hmmpanther:PTHR23111:SF25	testis expressed 13B				ENSP00000303777		3-Mar									COSM3405827	3-Mar	.		ENST00000302917	Transcript						ENSG00000170925	g.chrX:107224498C>G	11736			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=TX13B_HUMAN&rb=1&re=311&var=V251L	NA	getma.org/?cm=var&var=hg19,X,107224498,C,G&fts=all	V251L	--	--	1																																			1	1		benign(0.298)	p.V251L	NM_031273	NP_112563		tolerated(0.28)	1	TX13B_HUMAN	TEX13B	HGNC	Q9BXU2	TX13B_HUMAN					3	844	-			UPI0000042206	251					SNV	TEX13B,missense_variant,p.Val251Leu,ENST00000302917,NM_031273.2;	uc004enn.1	c.751G>C	844/1248	4	4			c.751G>C						23	SNP	c.(751-753)GTC>CTC	20	20			ovary(1)	1	Broad	testis expressed 13B			107224498		0.552	ENSG00000170925	15533	g.chrX:107224498C>G										-7.701559	KEEP	7	15	-1	169	171	7	15	-1	56.056584	169	171	0.064815	1	0	0	0	0	1	0	0	0	--	--		0	G				273	GBM-76-4935-TP	p.V251L	C	AGAAGACAGACATGGCTGTTT	NM_031273	NP_112563	107224498	Q9BXU2	TX13B_HUMAN	0			3	844	-	G	G			Missense_Mutation	251						
TEX13B	56156		GRCh37	X	107224904	107224904	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000302917.1:c.454C>T	p.His152Tyr	p.H152Y	ENST00000302917	NM_031273.2	152	Cat/Tat	0																																																																																																																																																																																																																																												
TEX14	56155		GRCh37	17	56699012	56699012	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000240361.8:c.553G>T	p.Gly185Ter	p.G185*	ENST00000240361		185	Gga/Tga	0																																																																																																																																																																																																																																												
TEX15	56154	broad.mit.edu	GRCh37	8	30695500	30695500	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0169-01	TCGA-06-0169-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256246.2:c.7151C>T	p.Thr2384Met	p.T2384M	ENST00000256246	NM_031271.3	2384	aCg/aTg	0			1			A	T/M	uc003xil.2	protein_coding	YES	CCDS6080.1			7151/8370									ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7	c.(7150-7152)ACG>ATG			hmmpanther:PTHR22380,hmmpanther:PTHR22380:SF1	testis expressed 15				ENSP00000256246		4-Mar	2.47E-05					3.00E-05		6.06E-05	rs759813914,COSM2150294	4-Mar	.		ENST00000256246	Transcript						ENSG00000133863	g.chr8:30695500G>A	11738			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TEX15_HUMAN&rb=907&re=2406&var=T2384M	NA	getma.org/?cm=var&var=hg19,8,30695500,G,A&fts=all	T2384M	--	--	1																																			0,1	1		possibly_damaging(0.556)	p.T2384M	NM_031271	NP_112561		deleterious(0.01)	0,1	TEX15_HUMAN	TEX15	HGNC	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	D3DSV6_HUMAN		3	7151	-			UPI000013CEF9	2384					SNV	TEX15,missense_variant,p.Thr2384Met,ENST00000256246,NM_031271.3;	uc003xil.2	c.7151C>T	7226/10187	1	1			c.7151C>T						8	SNP	c.(7150-7152)ACG>ATG	49	49			ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7	Broad	testis expressed 15			30695500		0.388	ENSG00000133863	15535	g.chr8:30695500G>A										162.84201	KEEP	33	39	-1	162	120	33	39	-1	189.527755	162	120	0.208824	1	0	0	0	0	1	0	0	0	--	--		0	A				34	GBM-06-0169-TP	p.T2384M	G	CTTTTTTGGCGTTAAATGATT	NM_031271	NP_112561	30695500	Q9BXT5	TEX15_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	7151	-	A	A			Missense_Mutation	2384						
TEX15	56154	broad.mit.edu	GRCh37	8	30700748	30700748	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0174-01	TCGA-06-0174-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256246.2:c.5786A>G	p.Gln1929Arg	p.Q1929R	ENST00000256246	NM_031271.3	1929	cAg/cGg	0			1			C	Q/R	uc003xil.2	protein_coding	YES	CCDS6080.1			5786/8370									ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7	c.(5785-5787)CAG>CGG			hmmpanther:PTHR22380,hmmpanther:PTHR22380:SF1	testis expressed 15				ENSP00000256246		4-Jan									COSM3412976	4-Jan	.		ENST00000256246	Transcript						ENSG00000133863	g.chr8:30700748T>C	11738			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=TEX15_HUMAN&rb=907&re=2406&var=Q1929R	NA	getma.org/?cm=var&var=hg19,8,30700748,T,C&fts=all	Q1929R	--	--	1																																			1	1		possibly_damaging(0.536)	p.Q1929R	NM_031271	NP_112561		deleterious(0.04)	1	TEX15_HUMAN	TEX15	HGNC	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	D3DSV6_HUMAN		1	5786	-			UPI000013CEF9	1929					SNV	TEX15,missense_variant,p.Gln1929Arg,ENST00000256246,NM_031271.3;	uc003xil.2	c.5786A>G	5861/10187	4	4			c.5786A>G						8	SNP	c.(5785-5787)CAG>CGG	35	35			ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7	Broad	testis expressed 15			30700748		0.358	ENSG00000133863	15535	g.chr8:30700748T>C										208.833808	KEEP	36	34	-1	49	66	36	34	-1	210.807	49	66	0.384615	1	0	0	0	0	1	0	0	0	--	--		0	C				37	GBM-06-0174-TP	p.Q1929R	T	ATATATCTTCTGCAACTTAGA	NM_031271	NP_112561	30700748	Q9BXT5	TEX15_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	5786	-	C	C			Missense_Mutation	1929						
TEX15	56154	broad.mit.edu	GRCh37	8	30699744	30699744	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-2557-01	TCGA-06-2557-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256246.2:c.6790A>G	p.Lys2264Glu	p.K2264E	ENST00000256246	NM_031271.3	2264	Aag/Gag	0			1			C	K/E	uc003xil.2	protein_coding	YES	CCDS6080.1			6790/8370									ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7	c.(6790-6792)AAG>GAG			hmmpanther:PTHR22380,hmmpanther:PTHR22380:SF1	testis expressed 15				ENSP00000256246		4-Jan									COSM3412975	4-Jan	.		ENST00000256246	Transcript						ENSG00000133863	g.chr8:30699744T>C	11738			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=TEX15_HUMAN&rb=907&re=2406&var=K2264E	NA	getma.org/?cm=var&var=hg19,8,30699744,T,C&fts=all	K2264E	--	--	1																																			1	1		benign(0.121)	p.K2264E	NM_031271	NP_112561		deleterious(0.01)	1	TEX15_HUMAN	TEX15	HGNC	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	D3DSV6_HUMAN		1	6790	-			UPI000013CEF9	2264					SNV	TEX15,missense_variant,p.Lys2264Glu,ENST00000256246,NM_031271.3;	uc003xil.2	c.6790A>G	6865/10187	3	3			c.6790A>G						8	SNP	c.(6790-6792)AAG>GAG	50	50			ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7	Broad	testis expressed 15			30699744		0.313	ENSG00000133863	15535	g.chr8:30699744T>C										-31.508134	KEEP	1	2	-1	77	75	1	2	-1	6.3754	77	75	0.020408	1	0	0	0	0	1	0	0	0	--	--		0	C				81	GBM-06-2557-TP	p.K2264E	T	TGTAAAATCTTCCTTCTGTTA	NM_031271	NP_112561	30699744	Q9BXT5	TEX15_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	6790	-	C	C			Missense_Mutation	2264						
TEX15	56154	broad.mit.edu	GRCh37	8	30695499	30695499	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5411-01	TCGA-06-5411-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256246.2:c.7152G>A	p.Thr2384=	p.T2384=	ENST00000256246	NM_031271.3	2384	acG/acA	0	T:0		1			T	T	uc003xil.2	protein_coding	YES	CCDS6080.1			7152/8370									ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7	c.(7150-7152)ACG>ACA			hmmpanther:PTHR22380,hmmpanther:PTHR22380:SF1	testis expressed 15			T:0.0001	ENSP00000256246		4-Mar	8.24E-06					1.50E-05			rs369884354,COSM2153159	4-Mar	.		ENST00000256246	Transcript						ENSG00000133863	g.chr8:30695499C>T	11738			LOW								--	--	1																																			0,1	1			p.T2384T	NM_031271	NP_112561			0,1	TEX15_HUMAN	TEX15	HGNC	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	D3DSV6_HUMAN		3	7152	-			UPI000013CEF9	2384					SNV	TEX15,synonymous_variant,p.=,ENST00000256246,NM_031271.3;	uc003xil.2	c.7152G>A	7227/10187	1	1			c.7152G>A						8	SNP	c.(7150-7152)ACG>ACA	16	16			ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7	Broad	testis expressed 15			30695499		0.388	ENSG00000133863	15535	g.chr8:30695499C>T										67.574026	KEEP	14	15	-1	50	51	14	15	-1	75.153095	50	51	0.232759	1	0	0	0	0	0	0	1	0	--	--		0	T				94	GBM-06-5411-TP	p.T2384T	C	CCTTTTTTGGCGTTAAATGAT	NM_031271	NP_112561	30695499	Q9BXT5	TEX15_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	7152	-	T	T			Silent	2384						
TEX15	56154	broad.mit.edu	GRCh37	8	30700338	30700338	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01	TCGA-06-5859-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256246.2:c.6196G>A	p.Val2066Ile	p.V2066I	ENST00000256246	NM_031271.3	2066	Gtc/Atc	0			1			T	V/I	uc003xil.2	protein_coding	YES	CCDS6080.1			6196/8370									ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7	c.(6196-6198)GTC>ATC			Pfam_domain:PF15326,hmmpanther:PTHR22380,hmmpanther:PTHR22380:SF1	testis expressed 15				ENSP00000256246		4-Jan	2.47E-05			0.00037					rs753475065,COSM2153409	4-Jan	.		ENST00000256246	Transcript						ENSG00000133863	g.chr8:30700338C>T	11738			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=TEX15_HUMAN&rb=907&re=2406&var=V2066I	NA	getma.org/?cm=var&var=hg19,8,30700338,C,T&fts=all	V2066I	--	--	1																																			0,1	1		benign(0.236)	p.V2066I	NM_031271	NP_112561		tolerated(0.05)	0,1	TEX15_HUMAN	TEX15	HGNC	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	D3DSV6_HUMAN		1	6196	-			UPI000013CEF9	2066					SNV	TEX15,missense_variant,p.Val2066Ile,ENST00000256246,NM_031271.3;	uc003xil.2	c.6196G>A	6271/10187	1	1			c.6196G>A						8	SNP	c.(6196-6198)GTC>ATC	7	7			ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7	Broad	testis expressed 15			30700338		0.338	ENSG00000133863	15535	g.chr8:30700338C>T										32.116409	KEEP	7	5	-1	9	12	7	5	-1	32.805966	9	12	0.34375	1	0	0	0	0	1	0	0	0	--	--		0	T				103	GBM-06-5859-TP	p.V2066I	C	GAGACCATGACGATTTCAATA	NM_031271	NP_112561	30700338	Q9BXT5	TEX15_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	6196	-	T	T			Missense_Mutation	2066						
TEX15	56154	broad.mit.edu	GRCh37	8	30705338	30705338	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-6389-01	TCGA-06-6389-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256246.2:c.1196T>A	p.Val399Asp	p.V399D	ENST00000256246	NM_031271.3	399	gTt/gAt	0			1			T	V/D	uc003xil.2	protein_coding	YES	CCDS6080.1			1196/8370									ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7	c.(1195-1197)GTT>GAT			hmmpanther:PTHR22380,hmmpanther:PTHR22380:SF1	testis expressed 15				ENSP00000256246		4-Jan									COSM2153426	4-Jan	.		ENST00000256246	Transcript						ENSG00000133863	g.chr8:30705338A>T	11738			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=TEX15_HUMAN&rb=1&re=905&var=V399D	NA	getma.org/?cm=var&var=hg19,8,30705338,A,T&fts=all	V399D	--	--	1																																			1	1		possibly_damaging(0.748)	p.V399D	NM_031271	NP_112561		deleterious(0)	1	TEX15_HUMAN	TEX15	HGNC	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	D3DSV6_HUMAN		1	1196	-			UPI000013CEF9	399					SNV	TEX15,missense_variant,p.Val399Asp,ENST00000256246,NM_031271.3;TEX15,downstream_gene_variant,,ENST00000523186,;	uc003xil.2	c.1196T>A	1271/10187	2	2			c.1196T>A						8	SNP	c.(1195-1197)GTT>GAT	45	45			ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7	Broad	testis expressed 15			30705338		0.333	ENSG00000133863	15535	g.chr8:30705338A>T										171.577199	KEEP	25	36	-1	40	49	25	36	-1	172.879718	40	49	0.397163	1	0	0	0	0	1	0	0	0	--	--		0	T				105	GBM-06-6389-TP	p.V399D	A	AGATGAAATAACTGTATCAAT	NM_031271	NP_112561	30705338	Q9BXT5	TEX15_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	1196	-	T	T			Missense_Mutation	399						
TEX15	0	broad.mit.edu	GRCh37	8	30701172	30701172	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256246.2:c.5362C>T	p.Arg1788Ter	p.R1788*	ENST00000256246	NM_031271.3	1788	Cga/Tga	0			1			A	R/*	uc003xil.2	protein_coding	YES	CCDS6080.1			5362/8370									ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7	c.(5362-5364)CGA>TGA			hmmpanther:PTHR22380,hmmpanther:PTHR22380:SF1	testis expressed 15				ENSP00000256246		4-Jan	8.24E-06					1.51E-05			rs760122658,COSM3412977	4-Jan	.		ENST00000256246	Transcript						ENSG00000133863	g.chr8:30701172G>A	11738			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,8,30701172,G,A&fts=all	R1788*	--	--	1																																			0,1	1			p.R1788*	NM_031271	NP_112561			0,1	TEX15_HUMAN	TEX15	HGNC	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	D3DSV6_HUMAN		1	5362	-			UPI000013CEF9	1788					SNV	TEX15,stop_gained,p.Arg1788Ter,ENST00000256246,NM_031271.3;	uc003xil.2	c.5362C>T	5437/10187	5	1			c.5362C>T						8	SNP	c.(5362-5364)CGA>TGA	55	55			ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7	Broad	testis expressed 15			30701172		0.343	ENSG00000133863	15535	g.chr8:30701172G>A										71.825624	KEEP	14	12	-1	12	12	14	12	-1	71.830156	12	12	0.489362	1	0	0	0	0	0	1	0	0	--	--		0	A				177	GBM-19-5959-TP	p.R1788*	G	TTAACCTGTCGTTTGTACTTT	NM_031271	NP_112561	30701172	Q9BXT5	TEX15_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	5362	-	A	A			Nonsense_Mutation	1788						
TEX15	0	broad.mit.edu	GRCh37	8	30702861	30702861	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01	TCGA-27-1830-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256246.2:c.3673G>A	p.Ala1225Thr	p.A1225T	ENST00000256246	NM_031271.3	1225	Gct/Act	0			1			T	A/T	uc003xil.2	protein_coding	YES	CCDS6080.1			3673/8370									ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7	c.(3673-3675)GCT>ACT			hmmpanther:PTHR22380,hmmpanther:PTHR22380:SF1	testis expressed 15				ENSP00000256246		4-Jan	1.65E-05							0.000124	rs751183439,COSM3412978	4-Jan	.		ENST00000256246	Transcript						ENSG00000133863	g.chr8:30702861C>T	11738			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TEX15_HUMAN&rb=907&re=2406&var=A1225T	NA	getma.org/?cm=var&var=hg19,8,30702861,C,T&fts=all	A1225T	--	--	1																																			0,1	1		benign(0.012)	p.A1225T	NM_031271	NP_112561		tolerated(0.51)	0,1	TEX15_HUMAN	TEX15	HGNC	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	D3DSV6_HUMAN		1	3673	-			UPI000013CEF9	1225					SNV	TEX15,missense_variant,p.Ala1225Thr,ENST00000256246,NM_031271.3;TEX15,downstream_gene_variant,,ENST00000523186,;	uc003xil.2	c.3673G>A	3748/10187	1	1			c.3673G>A						8	SNP	c.(3673-3675)GCT>ACT	9	9			ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7	Broad	testis expressed 15			30702861		0.299	ENSG00000133863	15535	g.chr8:30702861C>T										69.077672	KEEP	12	12	-1	28	22	12	12	-1	71.10284	28	22	0.324324	1	0	0	0	0	1	0	0	0	--	--		0	T				189	GBM-27-1830-TP	p.A1225T	C	ACTTCATTAGCGTCACAACTG	NM_031271	NP_112561	30702861	Q9BXT5	TEX15_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	3673	-	T	T			Missense_Mutation	1225						
TEX15	0	broad.mit.edu	GRCh37	8	30701172	30701172	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-27-2519-01	TCGA-27-2519-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256246.2:c.5362C>T	p.Arg1788Ter	p.R1788*	ENST00000256246	NM_031271.3	1788	Cga/Tga	0			1			A	R/*	uc003xil.2	protein_coding	YES	CCDS6080.1			5362/8370									ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7	c.(5362-5364)CGA>TGA			hmmpanther:PTHR22380,hmmpanther:PTHR22380:SF1	testis expressed 15				ENSP00000256246		4-Jan	8.24E-06					1.51E-05			rs760122658,COSM3412977	4-Jan	.		ENST00000256246	Transcript						ENSG00000133863	g.chr8:30701172G>A	11738			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,8,30701172,G,A&fts=all	R1788*	--	--	1																																			0,1	1			p.R1788*	NM_031271	NP_112561			0,1	TEX15_HUMAN	TEX15	HGNC	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	D3DSV6_HUMAN		1	5362	-			UPI000013CEF9	1788					SNV	TEX15,stop_gained,p.Arg1788Ter,ENST00000256246,NM_031271.3;	uc003xil.2	c.5362C>T	5437/10187	5	1			c.5362C>T						8	SNP	c.(5362-5364)CGA>TGA	55	55			ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7	Broad	testis expressed 15			30701172		0.343	ENSG00000133863	15535	g.chr8:30701172G>A										72.665825	KEEP	12	17	-1	32	34	12	17	-1	76.097878	32	34	0.297872	1	0	0	0	0	0	1	0	0	--	--		0	A				199	GBM-27-2519-TP	p.R1788*	G	TTAACCTGTCGTTTGTACTTT	NM_031271	NP_112561	30701172	Q9BXT5	TEX15_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	5362	-	A	A			Nonsense_Mutation	1788						
TEX15	0	broad.mit.edu	GRCh37	8	30694497	30694497	+	synonymous_variant	Silent	SNP	C	C	T	rs142941425		TCGA-32-2491-01	TCGA-32-2491-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256246.2:c.8154G>A	p.Ala2718=	p.A2718=	ENST00000256246	NM_031271.3	2718	gcG/gcA	0	T:0		1			T	A	uc003xil.2	protein_coding	YES	CCDS6080.1			8154/8370									ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7	c.(8152-8154)GCG>GCA			hmmpanther:PTHR22380,hmmpanther:PTHR22380:SF1	testis expressed 15			T:0.0002	ENSP00000256246		4-Mar	0.000107	0.000192				0.00015		6.06E-05	rs142941425,COSM3412974	4-Mar	.		ENST00000256246	Transcript						ENSG00000133863	g.chr8:30694497C>T	11738			LOW								--	--	1																																			0,1	1			p.A2718A	NM_031271	NP_112561			0,1	TEX15_HUMAN	TEX15	HGNC	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	D3DSV6_HUMAN		3	8154	-			UPI000013CEF9	2718					SNV	TEX15,synonymous_variant,p.=,ENST00000256246,NM_031271.3;	uc003xil.2	c.8154G>A	8229/10187	2	2			c.8154G>A						8	SNP	c.(8152-8154)GCG>GCA	35	35			ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7	Broad	testis expressed 15			30694497		0.423	ENSG00000133863	15535	g.chr8:30694497C>T										69.8359	KEEP	17	17	-1	47	83	17	17	-1	78.168023	47	83	0.236641	1	0	0	0	0	0	0	1	0	--	--		0	T				235	GBM-32-2491-TP	p.A2718A	C	GTGGCTCCCCCGCAAAATAAG	NM_031271	NP_112561	30694497	Q9BXT5	TEX15_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	8154	-	T	T			Silent	2718						
TEX2	55852	broad.mit.edu	GRCh37	17	62272375	62272375	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0126-01	TCGA-06-0126-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258991.3:c.1725G>T	p.Glu575Asp	p.E575D	ENST00000258991	NM_001288732.1	575	gaG/gaT	0			1			A	E/D	uc002jec.2	protein_coding					1725/3384									ovary(1)	1	c.(1723-1725)GAG>GAT			hmmpanther:PTHR13466,hmmpanther:PTHR13466:SF2	testis expressed sequence 2				ENSP00000462665		12-Mar									COSM2149402	12-Mar	.		ENST00000583097	Transcript			signal transduction|sphingolipid metabolic process	integral to membrane		ENSG00000136478	g.chr17:62272375C>A	30884			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=TEX2_HUMAN&rb=382&re=581&var=E575D	NA	getma.org/?cm=var&var=hg19,17,62272375,C,A&fts=all	E575D	--	--	1																																		TEX2_uc002jed.2_Missense_Mutation_p.E575D|TEX2_uc002jee.2_Missense_Mutation_p.E575D	1			benign(0.239)	p.E575D	NM_018469	NP_060939		tolerated(0.24)	1	TEX2_HUMAN	TEX2	HGNC	Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	Q9NX99_HUMAN,Q7Z2T6_HUMAN,J3QKY0_HUMAN,J3KRY2_HUMAN		3	1898	-			UPI0000201266	575					SNV	TEX2,missense_variant,p.Glu575Asp,ENST00000258991,NM_001288732.1,NM_001288733.1;TEX2,missense_variant,p.Glu575Asp,ENST00000583097,;TEX2,missense_variant,p.Glu575Asp,ENST00000584379,NM_018469.3;TEX2,missense_variant,p.Glu76Asp,ENST00000583501,;	uc002jec.2	c.1725G>T	1898/4852	1	1			c.1725G>T						17	SNP	c.(1723-1725)GAG>GAT	58	58			ovary(1)	1	Broad	testis expressed sequence 2			62272375		0.423	ENSG00000136478	15537	g.chr17:62272375C>A	signal transduction|sphingolipid metabolic process	integral to membrane								133.614147	KEEP	32	17	0.346938776	53	26	32	17	0.346938776	135.3313	53	26	0.373984	1	0	0	0	0	1	0	0	0	--	--		0	A			TEX2_uc002jed.2_Missense_Mutation_p.E575D|TEX2_uc002jee.2_Missense_Mutation_p.E575D	13	GBM-06-0126-TP	p.E575D	C	AGGTTCCACCCTCAAGTCGAA	NM_018469	NP_060939	62272375	Q8IWB9	TEX2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	3	1898	-	A	A			Missense_Mutation	575						
TEX26	0	broad.mit.edu	GRCh37	13	31531137	31531137	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-26-1442-01	TCGA-26-1442-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380473.3:c.440C>G	p.Thr147Ser	p.T147S	ENST00000380473	NM_152325.1	147	aCt/aGt	0			1			G	T/S	uc001uti.2	protein_coding	YES	CCDS9339.1			440/870									ovary(2)|skin(1)	3	c.(439-441)ACT>AGT				hypothetical protein LOC122046				ENSP00000369840		7-Apr									COSM3399332	7-Apr	.		ENST00000380473	Transcript						ENSG00000175664	g.chr13:31531137C>G	28622			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=TEX26_HUMAN&rb=1&re=200&var=T147S	NA	getma.org/?cm=var&var=hg19,13,31531137,C,G&fts=all	T147S	--	--	1																																			1	1		probably_damaging(0.972)	p.T147S	NM_152325	NP_689538		tolerated(0.2)	1	TEX26_HUMAN	TEX26	HGNC	Q8N6G2	CM026_HUMAN		all cancers(112;0.0176)|Epithelial(112;0.0768)|OV - Ovarian serous cystadenocarcinoma(117;0.0852)			4	459	+		Lung SC(185;0.0281)	UPI0000070D41	147					SNV	TEX26,missense_variant,p.Thr147Ser,ENST00000380473,NM_152325.1;TEX26,non_coding_transcript_exon_variant,,ENST00000530916,;TEX26,3_prime_UTR_variant,,ENST00000531960,;	uc001uti.2	c.440C>G	453/1478	3	3			c.440C>G						13	SNP	c.(439-441)ACT>AGT	4	4			ovary(2)|skin(1)	3	Broad	hypothetical protein LOC122046			31531137		0.318	ENSG00000175664	1685	g.chr13:31531137C>G										13.780284	KEEP	7	4	-1	41	49	7	4	-1	26.992061	41	49	0.11236	1	0	0	0	0	1	0	0	0	--	--		0	G				180	GBM-26-1442-TP	p.T147S	C	ATTTCCCTTACTAAGAGAGAC	NM_152325	NP_689538	31531137	Q8N6G2	CM026_HUMAN	0		all cancers(112;0.0176)|Epithelial(112;0.0768)|OV - Ovarian serous cystadenocarcinoma(117;0.0852)	4	459	+	G	G		Lung SC(185;0.0281)	Missense_Mutation	147						
TEX29	0	broad.mit.edu	GRCh37	13	111995233	111995233	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-1825-01	TCGA-14-1825-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283547.1:c.370C>A	p.Pro124Thr	p.P124T	ENST00000283547	NM_152324.1	124	Cca/Aca	0			1			A	P/T	uc001vsa.2	protein_coding	YES	CCDS9522.1			370/456										0	c.(370-372)CCA>ACA			Low_complexity_(Seg):seg	hypothetical protein LOC121793				ENSP00000283547		6-May									COSM3399240	6-May	.		ENST00000283547	Transcript				integral to membrane		ENSG00000153495	g.chr13:111995233C>A	20370			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=TEX29_HUMAN&rb=1&re=151&var=P124T	NA	getma.org/?cm=var&var=hg19,13,111995233,C,A&fts=all	P124T	--	--	1																																			1	1		possibly_damaging(0.803)	p.P124T	NM_152324	NP_689537		tolerated_low_confidence(0.66)	1	TEX29_HUMAN	TEX29	HGNC	Q8N6K0	CM016_HUMAN	all cancers(43;0.113)|GBM - Glioblastoma multiforme(44;0.174)|BRCA - Breast invasive adenocarcinoma(86;0.188)				5	499	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		UPI0000071931	124			Cytoplasmic (Potential).		SNV	TEX29,missense_variant,p.Pro124Thr,ENST00000283547,NM_152324.1;TEX29,3_prime_UTR_variant,,ENST00000497241,;	uc001vsa.2	c.370C>A	499/709	2	2			c.370C>A						13	SNP	c.(370-372)CCA>ACA	41	41				0	Broad	hypothetical protein LOC121793			111995233		0.577	ENSG00000153495	1682	g.chr13:111995233C>A		integral to membrane								31.337338	KEEP	10	6	0.375	38	15	10	6	0.375	35.417102	38	15	0.229508	1	0	0	0	0	1	0	0	0	--	--		0	A				148	GBM-14-1825-TP	p.P124T	C	TCCTGGGCCTCCAAGTGCTGG	NM_152324	NP_689537	111995233	Q8N6K0	CM016_HUMAN	0	all cancers(43;0.113)|GBM - Glioblastoma multiforme(44;0.174)|BRCA - Breast invasive adenocarcinoma(86;0.188)		5	499	+	A	A	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		Missense_Mutation	124			Cytoplasmic (Potential).			
TEX37	0	broad.mit.edu	GRCh37	2	88828848	88828848	+	synonymous_variant	Silent	SNP	G	G	A	rs148580273		TCGA-12-5295-01	TCGA-12-5295-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303254.3:c.399G>A	p.Pro133=	p.P133=	ENST00000303254	NM_152670.2	133	ccG/ccA	0	A:0		1			A	P	uc002stb.1	protein_coding	YES	CCDS2003.1			399/543									skin(1)	1	c.(397-399)CCG>CCA			Pfam_domain:PF15217	chromosome 2 open reading frame 51			A:0.0001	ENSP00000307142		4-Apr	0.000321		0.00164	0.000578		0.00015	0.0011	0.000242	rs148580273,COSM2823595	4-Apr	common_variant		ENST00000303254	Transcript				nucleus		ENSG00000172073	g.chr2:88828848G>A	26341			LOW								--	--	1																																			0,1	1			p.P133P	NM_152670	NP_689883			0,1	TEX37_HUMAN	TEX37	HGNC	Q96LM6	TSC21_HUMAN					4	541	+			UPI0000072E9C	133					SNV	TEX37,synonymous_variant,p.=,ENST00000303254,NM_152670.2;	uc002stb.1	c.399G>A	541/795	2	2			c.399G>A						2	SNP	c.(397-399)CCG>CCA	24	24			skin(1)	1	Broad	chromosome 2 open reading frame 51			88828848		0.572	ENSG00000172073	2129	g.chr2:88828848G>A		nucleus								118.444396	KEEP	25	27	-1	43	60	25	27	-1	123.301504	43	60	0.305556	1	0	0	0	0	0	0	1	0	--	--		0	A				129	GBM-12-5295-TP	p.P133P	G	CTGACTTTCCGTGCCTCGTGG	NM_152670	NP_689883	88828848	Q96LM6	TSC21_HUMAN	0			4	541	+	A	A			Silent	133						
TFAP2A	7020		GRCh37	6	10410393	10410393	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000379604.2:c.221C>T	p.Ser74Phe	p.S74F	ENST00000379604	NM_003220.2	74	tCc/tTc	0																																																																																																																																																																																																																																												
TFAP2B	7021	broad.mit.edu	GRCh37	6	50810943	50810943	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-0882-01	TCGA-06-0882-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393655.3:c.1221C>A	p.Ala407=	p.A407=	ENST00000393655	NM_003221.3	407	gcC/gcA	0			1			A	A	uc003pag.2	protein_coding	YES	CCDS4934.2			1221/1383										0	c.(1219-1221)GCC>GCA			hmmpanther:PTHR10812:SF14,hmmpanther:PTHR10812,Pfam_domain:PF03299	transcription factor AP-2 beta				ENSP00000377265		7-Jul									COSM3411172	7-Jul	.		ENST00000393655	Transcript	1		nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	ENSG00000008196	g.chr6:50810943C>A	11743			LOW								--	--	1																																			1	1			p.A407A	NM_003221	NP_003212			1	AP2B_HUMAN	TFAP2B	HGNC	Q92481	AP2B_HUMAN			A8K557_HUMAN		7	1387	+	Lung NSC(77;0.156)		UPI000020DE90	407	QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).				SNV	TFAP2B,synonymous_variant,p.=,ENST00000263046,;TFAP2B,synonymous_variant,p.=,ENST00000393655,NM_003221.3;	uc003pag.2	c.1221C>A	1390/5773	1	1			c.1221C>A						6	SNP	c.(1219-1221)GCC>GCA	64	64				0	Broad	transcription factor AP-2 beta			50810943		0.627	ENSG00000008196	15544	g.chr6:50810943C>A	nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	Pancreas(116;1373 2332 5475 10752)			Pancreas(116;1373 2332 5475 10752)			-33.514264	KEEP	4	6	0.6	113	124	4	6	0.6	12.816549	113	124	0.043478	1	0	0	0	0	0	0	1	0	--	--		0	A				77	GBM-06-0882-TP	p.A407A	C	GCTTCGGCGCCCCGGCCATTT	NM_003221	NP_003212	50810943	Q92481	AP2B_HUMAN	0			7	1387	+	A	A	Lung NSC(77;0.156)		Silent	407	QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).					
TFAP2D	0	broad.mit.edu	GRCh37	6	50696983	50696983	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01	TCGA-12-3650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000008391.3:c.841C>T	p.Arg281Trp	p.R281W	ENST00000008391	NM_172238.3	281	Cgg/Tgg	0			1			T	R/W	uc003paf.2	protein_coding	YES	CCDS4933.1			841/1359									ovary(6)|breast(1)	7	c.(841-843)CGG>TGG			Prints_domain:PR01748,Pfam_domain:PF03299,hmmpanther:PTHR10812,hmmpanther:PTHR10812:SF5	transcription factor AP-2 beta-like 1				ENSP00000008391		8-May	1.65E-05				0.000151	1.50E-05			rs776969911,COSM3354285	8-May	.		ENST00000008391	Transcript					DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000008197	g.chr6:50696983C>T	15581			MODERATE		3.5	medium	getma.org/?cm=msa&ty=f&p=AP2D_HUMAN&rb=207&re=414&var=R281W	NA	getma.org/?cm=var&var=hg19,6,50696983,C,T&fts=all	R281W	--	--	1																																		TFAP2D_uc011dwt.1_RNA	0,1	1		probably_damaging(0.953)	p.R281W	NM_172238	NP_758438		deleterious(0)	0,1	AP2D_HUMAN	TFAP2D	HGNC	Q7Z6R9	AP2D_HUMAN					5	1353	+	Lung NSC(77;0.0334)		UPI00001A3A89	281			H-S-H (helix-span-helix), dimerization.		SNV	TFAP2D,missense_variant,p.Arg281Trp,ENST00000008391,NM_172238.3;TFAP2D,non_coding_transcript_exon_variant,,ENST00000492804,;	uc003paf.2	c.841C>T	1069/1711	1	1			c.841C>T						6	SNP	c.(841-843)CGG>TGG	4	4			ovary(6)|breast(1)	7	Broad	transcription factor AP-2 beta-like 1			50696983		0.423	ENSG00000008197	15546	g.chr6:50696983C>T			DNA binding|sequence-specific DNA binding transcription factor activity							264.001364	KEEP	53	41	-1	70	68	53	41	-1	264.996382	70	68	0.42654	1	0	0	0	0	1	0	0	0	--	--		0	T			TFAP2D_uc011dwt.1_RNA	126	GBM-12-3650-TP	p.R281W	C	AGCAGGAAGACGGAAAGCAGC	NM_172238	NP_758438	50696983	Q7Z6R9	AP2D_HUMAN	0			5	1353	+	T	T	Lung NSC(77;0.0334)		Missense_Mutation	281			H-S-H (helix-span-helix), dimerization.			
TFAP2D	83741		GRCh37	6	50696975	50696975	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000008391.3:c.833C>T	p.Ala278Val	p.A278V	ENST00000008391	NM_172238.3	278	gCa/gTa	0																																																																																																																																																																																																																																												
TFEB	0	broad.mit.edu	GRCh37	6	41654875	41654875	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000230323.4:c.760C>T	p.Arg254Cys	p.R254C	ENST00000230323	NM_007162.2	254	Cgc/Tgc	0			1			A	R/C	uc003oqs.1	protein_coding	YES	CCDS4858.1			760/1431	T		ALPHA		renal (childhood epithelioid)				ovary(1)	1	c.(760-762)CGC>TGC			PROSITE_profiles:PS50888,hmmpanther:PTHR10014,hmmpanther:PTHR10014:SF9,Gene3D:4.10.280.10,Pfam_domain:PF00010,SMART_domains:SM00353,Superfamily_domains:SSF47459	transcription factor EB				ENSP00000230323		10-Aug									COSM3411100	10-Aug	.		ENST00000230323	Transcript	1		embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	ENSG00000112561	g.chr6:41654875G>A	11753			MODERATE		2.74	medium	getma.org/?cm=msa&ty=f&p=TFEB_HUMAN&rb=236&re=289&var=R254C	getma.org/pdb.php?prot=TFEB_HUMAN&from=236&to=289&var=R254C	getma.org/?cm=var&var=hg19,6,41654875,G,A&fts=all	R254C	--	--	1																																		TFEB_uc003oqt.1_Missense_Mutation_p.R254C|TFEB_uc003oqu.1_Missense_Mutation_p.R268C|TFEB_uc003oqv.1_Missense_Mutation_p.R254C|TFEB_uc003oqr.1_Missense_Mutation_p.R169C	1	1		probably_damaging(0.995)	p.R254C	NM_007162	NP_009093		deleterious(0)	1	TFEB_HUMAN	TFEB	HGNC	P19484	TFEB_HUMAN	Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		Q86WB1_HUMAN,Q709A9_HUMAN,Q709A8_HUMAN,B1AKB4_HUMAN,B1AKB2_HUMAN,B1AKB1_HUMAN,B1AKA9_HUMAN		8	1062	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		UPI0000001615	254			Helix-loop-helix motif.		SNV	TFEB,missense_variant,p.Arg254Cys,ENST00000394283,;TFEB,missense_variant,p.Arg254Cys,ENST00000230323,NM_007162.2;TFEB,missense_variant,p.Arg254Cys,ENST00000373033,NM_001271944.1,NM_001271943.1;TFEB,missense_variant,p.Arg340Cys,ENST00000343317,NM_001271945.1;TFEB,missense_variant,p.Arg268Cys,ENST00000358871,NM_001167827.2;TFEB,missense_variant,p.Arg254Cys,ENST00000403298,;TFEB,missense_variant,p.Arg169Cys,ENST00000420312,;TFEB,missense_variant,p.Arg112Cys,ENST00000406563,;TFEB,missense_variant,p.Arg254Cys,ENST00000419396,;TFEB,downstream_gene_variant,,ENST00000416140,;TFEB,downstream_gene_variant,,ENST00000419574,;TFEB,downstream_gene_variant,,ENST00000424495,;TFEB,downstream_gene_variant,,ENST00000445214,;TFEB,downstream_gene_variant,,ENST00000425401,;TFEB,downstream_gene_variant,,ENST00000445700,;TFEB,downstream_gene_variant,,ENST00000433032,;AL035588.1,downstream_gene_variant,,ENST00000597468,;TFEB,non_coding_transcript_exon_variant,,ENST00000494822,;	uc003oqs.1	c.760C>T	1062/2354	1	1			c.760C>T	T		ALPHA		renal (childhood epithelioid)	6	SNP	c.(760-762)CGC>TGC	59	59			ovary(1)	1	Broad	transcription factor EB			41654875		0.537	ENSG00000112561	15557	g.chr6:41654875G>A	embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			134			134	58.609916	KEEP	12	11	-1	22	18	12	11	-1	59.769175	22	18	0.345455	1	0	0	0	0	1	0	0	0	--	--		0	A			TFEB_uc003oqt.1_Missense_Mutation_p.R254C|TFEB_uc003oqu.1_Missense_Mutation_p.R268C|TFEB_uc003oqv.1_Missense_Mutation_p.R254C|TFEB_uc003oqr.1_Missense_Mutation_p.R169C	159	GBM-19-1390-TP	p.R254C	G	TCCTTGATGCGGTCATTGATG	NM_007162	NP_009093	41654875	P19484	TFEB_HUMAN	0	Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		8	1062	-	A	A	Ovarian(28;0.0355)|Colorectal(47;0.121)		Missense_Mutation	254			Helix-loop-helix motif.			
TFEC	22797	broad.mit.edu	GRCh37	7	115614228	115614228	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01	TCGA-06-0122-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265440.7:c.263G>A	p.Arg88Lys	p.R88K	ENST00000265440	NM_012252.3	88	aGa/aAa	0	T:0.0002		1			T	R/K	uc003vhj.1	protein_coding	YES	CCDS5762.1			263/1044									large_intestine(1)	1	c.(262-264)AGA>AAA			hmmpanther:PTHR10014,hmmpanther:PTHR10014:SF13	transcription factor EC isoform a			T:0	ENSP00000265440		8-Mar	6.59E-05	0.000289		0.000588					rs367653280,COSM2149236	8-Mar	common_variant		ENST00000265440	Transcript				nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	ENSG00000105967	g.chr7:115614228C>T	11754			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=TFEC_HUMAN&rb=53&re=139&var=R88K	NA	getma.org/?cm=var&var=hg19,7,115614228,C,T&fts=all	R88K	--	--	1																																		TFEC_uc003vhk.1_Intron|TFEC_uc003vhl.3_Intron|TFEC_uc011kmw.1_Missense_Mutation_p.R178K	0,1	1		benign(0.003)	p.R88K	NM_012252	NP_036384		tolerated(0.37)	0,1	TFEC_HUMAN	TFEC	HGNC	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		Q75MG2_HUMAN,Q75KY0_HUMAN		3	447	-			UPI000006CC81	88			Necessary for transcriptional transactivation.		SNV	TFEC,missense_variant,p.Arg88Lys,ENST00000265440,NM_012252.3;TFEC,missense_variant,p.Arg178Lys,ENST00000484212,;TFEC,intron_variant,,ENST00000320239,NM_001018058.2;TFEC,intron_variant,,ENST00000393485,;	uc003vhj.1	c.263G>A	444/6628	2	2			c.263G>A						7	SNP	c.(262-264)AGA>AAA	34	34			large_intestine(1)	1	Broad	transcription factor EC isoform a			115614228		0.358	ENSG00000105967	15558	g.chr7:115614228C>T		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity							55.07257	KEEP	15	8	-1	32	21	15	8	-1	57.359468	32	21	0.30303	1	0	0	0	0	1	0	0	0	--	--		0	T			TFEC_uc003vhk.1_Intron|TFEC_uc003vhl.3_Intron|TFEC_uc011kmw.1_Missense_Mutation_p.R178K	10	GBM-06-0122-TP	p.R88K	C	ACTTACTGTTCTTTGCATTAG	NM_012252	NP_036384	115614228	O14948	TFEC_HUMAN	0	STAD - Stomach adenocarcinoma(10;0.00878)		3	447	-	T	T			Missense_Mutation	88			Necessary for transcriptional transactivation.			
TFEC	0	broad.mit.edu	GRCh37	7	115590932	115590932	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2638-01	TCGA-32-2638-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265440.7:c.511G>A	p.Asp171Asn	p.D171N	ENST00000265440	NM_012252.3	171	Gat/Aat	0			1			T	D/N	uc003vhj.1	protein_coding	YES	CCDS5762.1			511/1044									large_intestine(1)	1	c.(511-513)GAT>AAT			Gene3D:4.10.280.10,Pfam_domain:PF00010,PROSITE_profiles:PS50888,hmmpanther:PTHR10014,hmmpanther:PTHR10014:SF13,SMART_domains:SM00353,Superfamily_domains:SSF47459	transcription factor EC isoform a				ENSP00000265440		8-Jun									COSM3411506	8-Jun	.		ENST00000265440	Transcript				nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	ENSG00000105967	g.chr7:115590932C>T	11754			MODERATE		1.815	low	getma.org/?cm=msa&ty=f&p=TFEC_HUMAN&rb=140&re=193&var=D171N	getma.org/pdb.php?prot=TFEC_HUMAN&from=140&to=193&var=D171N	getma.org/?cm=var&var=hg19,7,115590932,C,T&fts=all	D171N	--	--	1																																		TFEC_uc003vhk.1_Missense_Mutation_p.D142N|TFEC_uc003vhl.3_Missense_Mutation_p.D142N|TFEC_uc011kmw.1_Missense_Mutation_p.D261N	1	1		probably_damaging(0.987)	p.D171N	NM_012252	NP_036384		deleterious(0)	1	TFEC_HUMAN	TFEC	HGNC	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		Q75MG2_HUMAN,Q75KY0_HUMAN		6	695	-			UPI000006CC81	171			Helix-loop-helix motif.		SNV	TFEC,missense_variant,p.Asp171Asn,ENST00000265440,NM_012252.3;TFEC,missense_variant,p.Asp142Asn,ENST00000320239,NM_001018058.2;TFEC,missense_variant,p.Asp104Asn,ENST00000457268,NM_001244583.1;TFEC,missense_variant,p.Asp142Asn,ENST00000393485,;TFEC,missense_variant,p.Asp261Asn,ENST00000484212,;TFEC,non_coding_transcript_exon_variant,,ENST00000462828,;	uc003vhj.1	c.511G>A	692/6628	1	1			c.511G>A						7	SNP	c.(511-513)GAT>AAT	8	8			large_intestine(1)	1	Broad	transcription factor EC isoform a			115590932		0.323	ENSG00000105967	15558	g.chr7:115590932C>T		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity							27.930725	KEEP	7	7	-1	46	26	7	7	-1	34.203869	46	26	0.188406	1	0	0	0	0	1	0	0	0	--	--		0	T			TFEC_uc003vhk.1_Missense_Mutation_p.D142N|TFEC_uc003vhl.3_Missense_Mutation_p.D142N|TFEC_uc011kmw.1_Missense_Mutation_p.D261N	242	GBM-32-2638-TP	p.D171N	C	ACTCACGGATCATTAGACTTT	NM_012252	NP_036384	115590932	O14948	TFEC_HUMAN	0	STAD - Stomach adenocarcinoma(10;0.00878)		6	695	-	T	T			Missense_Mutation	171			Helix-loop-helix motif.			
TFIP11	24144	broad.mit.edu	GRCh37	22	26906086	26906086	+	synonymous_variant	Silent	SNP	G	G	A	rs150326842	byFrequency	TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000407690.1:c.153C>T	p.Tyr51=	p.Y51=	ENST00000407690	NM_012143.2	51	taC/taT	0	A:0	A:0	1	A:0		A	Y	uc003acr.2	protein_coding		CCDS13838.1			153/2514										0	c.(151-153)TAC>TAT			hmmpanther:PTHR23329,hmmpanther:PTHR23329:SF1,Pfam_domain:PF12457,PIRSF_domain:PIRSF017706	tuftelin interacting protein 11		A:0	A:0.0023	ENSP00000384297	A:0.002	16-May	0.00121	0.000288	8.64E-05	0.000231	0.000151	0.00201	0.0011	0.000303	rs150326842,COSM3405566	16-May	common_variant		ENST00000405938	Transcript		A:0.0004	biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000100109	g.chr22:26906086G>A	17165			LOW								--	--	1																																		TFIP11_uc003acs.2_Silent_p.Y51Y|TFIP11_uc003act.2_Silent_p.Y51Y	0,1				p.Y51Y	NM_012143	NP_036275	A:0		0,1	TFP11_HUMAN	TFIP11	HGNC	Q9UBB9	TFP11_HUMAN			F6XM96_HUMAN,F6UQ07_HUMAN,F6UKU9_HUMAN,F6SQZ1_HUMAN		3	527	-			UPI0000137191	51					SNV	TFIP11,synonymous_variant,p.=,ENST00000407690,NM_012143.2;TFIP11,synonymous_variant,p.=,ENST00000407431,;TFIP11,synonymous_variant,p.=,ENST00000405938,NM_001008697.1;TFIP11,synonymous_variant,p.=,ENST00000407148,;TFIP11,synonymous_variant,p.=,ENST00000455080,;TFIP11,synonymous_variant,p.=,ENST00000418876,;TFIP11,synonymous_variant,p.=,ENST00000420242,;TFIP11,downstream_gene_variant,,ENST00000440258,;TFIP11,upstream_gene_variant,,ENST00000450493,;CTA-445C9.14,upstream_gene_variant,,ENST00000566814,;CTA-445C9.14,upstream_gene_variant,,ENST00000565764,;TFIP11,upstream_gene_variant,,ENST00000496523,;TFIP11,non_coding_transcript_exon_variant,,ENST00000479489,;TFIP11,non_coding_transcript_exon_variant,,ENST00000472918,;TFIP11,downstream_gene_variant,,ENST00000464449,;TFIP11,upstream_gene_variant,,ENST00000493698,;	uc003acr.2	c.153C>T	508/2896	2	2			c.153C>T						22	SNP	c.(151-153)TAC>TAT	34	34				0	Broad	tuftelin interacting protein 11			26906086		0.567	ENSG00000100109	15563	g.chr22:26906086G>A	biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity							376.470217	KEEP	56	73	-1	19	21	56	73	-1	386.011173	19	21	0.767123	1	0	0	0	0	0	0	1	0	--	--		0	A			TFIP11_uc003acs.2_Silent_p.Y51Y|TFIP11_uc003act.2_Silent_p.Y51Y	102	GBM-06-5858-TP	p.Y51Y	G	CCCACACCCCGTAGGTGGCTT	NM_012143	NP_036275	26906086	Q9UBB9	TFP11_HUMAN	0			3	527	-	A	A			Silent	51						
TFIP11	0	broad.mit.edu	GRCh37	22	26890269	26890269	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C			TCGA-32-4209-01	TCGA-32-4209-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000405938.1:c.1994T>G	p.Val665Gly	p.V665G	ENST00000405938	NM_001008697.1	665	gTg/gGg	0			1			C	V/G	uc003acr.2	protein_coding		CCDS13838.1			1994/2514										0	c.(1993-1995)GTG>GGG			hmmpanther:PTHR23329,hmmpanther:PTHR23329:SF1,Pfam_domain:PF07842,PIRSF_domain:PIRSF017706	tuftelin interacting protein 11				ENSP00000384297		15/16									COSM3748168	15/16	.		ENST00000405938	Transcript			biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000100109	g.chr22:26890269A>C	17165			MODERATE		2.895	medium	getma.org/?cm=msa&ty=f&p=TFP11_HUMAN&rb=397&re=666&var=V665G	NA	getma.org/?cm=var&var=hg19,22,26890269,A,C&fts=all	V665G	--	--	1																																		TFIP11_uc003acq.2_Missense_Mutation_p.V24G|TFIP11_uc003acs.2_Missense_Mutation_p.V665G|TFIP11_uc003act.2_Missense_Mutation_p.V665G|uc003acu.1_RNA	1			probably_damaging(0.995)	p.V665G	NM_012143	NP_036275		deleterious(0)	1	TFP11_HUMAN	TFIP11	HGNC	Q9UBB9	TFP11_HUMAN			F6XM96_HUMAN,F6UQ07_HUMAN,F6UKU9_HUMAN,F6SQZ1_HUMAN		13	2368	-			UPI0000137191	665					SNV	TFIP11,missense_variant,p.Val665Gly,ENST00000407690,NM_012143.2;TFIP11,missense_variant,p.Val665Gly,ENST00000407431,;TFIP11,missense_variant,p.Val665Gly,ENST00000405938,NM_001008697.1;TFIP11,missense_variant,p.Val665Gly,ENST00000407148,;SRRD,3_prime_UTR_variant,,ENST00000215917,NM_001013694.2;TFIP11,non_coding_transcript_exon_variant,,ENST00000492137,;SRRD,downstream_gene_variant,,ENST00000471799,;SRRD,downstream_gene_variant,,ENST00000477945,;TFIP11,downstream_gene_variant,,ENST00000481357,;	uc003acr.2	c.1994T>G	2349/2896	4	4			c.1994T>G						22	SNP	c.(1993-1995)GTG>GGG	34	34				0	Broad	tuftelin interacting protein 11			26890269		0.463	ENSG00000100109	15563	g.chr22:26890269A>C	biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity							-9.831918	KEEP	13	19	-1	52	61	13	19	-1	7.239851	52	61	0.1	1	0	0	0	0	1	0	0	0	--	--		0	C			TFIP11_uc003acq.2_Missense_Mutation_p.V24G|TFIP11_uc003acs.2_Missense_Mutation_p.V665G|TFIP11_uc003act.2_Missense_Mutation_p.V665G|uc003acu.1_RNA	244	GBM-32-4209-TP	p.V665G	A	AGAGCACAGCACCTGCCAAAA	NM_012143	NP_036275	26890269	Q9UBB9	TFP11_HUMAN	0			13	2368	-	C	C			Missense_Mutation	665						
TFPI2	7980	broad.mit.edu	GRCh37	7	93518519	93518519	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0875-01	TCGA-06-0875-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222543.5:c.288C>T	p.Cys96=	p.C96=	ENST00000222543	NM_001271004.1	96	tgC/tgT	0			1			A	C	uc003umy.1	protein_coding	YES	CCDS5632.1			288/708									pancreas(1)	1	c.(286-288)TGC>TGT			PROSITE_profiles:PS50279,hmmpanther:PTHR10083,hmmpanther:PTHR10083:SF89,Gene3D:4.10.410.10,Pfam_domain:PF00014,PIRSF_domain:PIRSF001620,SMART_domains:SM00131,Superfamily_domains:SSF57362	tissue factor pathway inhibitor 2 precursor				ENSP00000222543		5-Mar									COSM3412496	5-Mar	.		ENST00000222543	Transcript			blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	ENSG00000105825	g.chr7:93518519G>A	11761			LOW								--	--	1																																		GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.C96C|TFPI2_uc003una.1_Silent_p.C85C|TFPI2_uc003unb.1_Silent_p.C96C|TFPI2_uc010lfg.1_Intron	1	1			p.C96C	NM_006528	NP_006519			1	TFPI2_HUMAN	TFPI2	HGNC	P48307	TFPI2_HUMAN	STAD - Stomach adenocarcinoma(171;0.000967)		Q8NE89_HUMAN,Q8NAK6_HUMAN		3	363	-	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		UPI00000362E2	96			BPTI/Kunitz inhibitor 2.		SNV	TFPI2,splice_region_variant,,ENST00000545378,;TFPI2,synonymous_variant,p.=,ENST00000222543,NM_001271004.1,NM_001271003.1,NM_006528.3;TFPI2,synonymous_variant,p.=,ENST00000451238,;GNGT1,intron_variant,,ENST00000455502,;AC002076.10,upstream_gene_variant,,ENST00000435257,;TFPI2,downstream_gene_variant,,ENST00000461482,;	uc003umy.1	c.288C>T	601/2444	2	2			c.288C>T						7	SNP	c.(286-288)TGC>TGT	35	35			pancreas(1)	1	Broad	tissue factor pathway inhibitor 2 precursor			93518519		0.398	ENSG00000105825	15565	g.chr7:93518519G>A	blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity							31.253009	KEEP	24	14	-1	163	145	24	14	-1	77.16602	163	145	0.108911	1	0	0	0	0	0	0	1	0	--	--		0	A			GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.C96C|TFPI2_uc003una.1_Silent_p.C85C|TFPI2_uc003unb.1_Silent_p.C96C|TFPI2_uc010lfg.1_Intron	71	GBM-06-0875-TP	p.C96C	G	CTTGCAGCCGGCAAACTTTGG	NM_006528	NP_006519	93518519	P48307	TFPI2_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.000967)		3	363	-	A	A	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		Silent	96			BPTI/Kunitz inhibitor 2.			
TFPI2	7980	broad.mit.edu	GRCh37	7	93516148	93516148	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs12669450		TCGA-06-2564-01	TCGA-06-2564-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222543.5:c.692G>A	p.Arg231Gln	p.R231Q	ENST00000222543	NM_001271004.1	231	cGg/cAg	0		T:0	1	T:0		T	R/Q	uc003umy.1	protein_coding	YES	CCDS5632.1			692/708									pancreas(1)	1	c.(691-693)CGG>CAG			hmmpanther:PTHR10083,hmmpanther:PTHR10083:SF89,PIRSF_domain:PIRSF001620	tissue factor pathway inhibitor 2 precursor		T:0.0129		ENSP00000222543	T:0	5-May	0.0011			0.0151		1.51E-05		0.000121	rs12669450,COSM3412495	5-May	common_variant		ENST00000222543	Transcript		T:0.0026	blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	ENSG00000105825	g.chr7:93516148C>T	11761			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=TFPI2_HUMAN&rb=180&re=235&var=R231Q	getma.org/pdb.php?prot=TFPI2_HUMAN&from=210&to=235&var=R231Q	getma.org/?cm=var&var=hg19,7,93516148,C,T&fts=all	R231Q	--	--	1																																		GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_3'UTR|TFPI2_uc003una.1_Missense_Mutation_p.R220Q|TFPI2_uc003unb.1_Missense_Mutation_p.R237Q|TFPI2_uc010lfg.1_Missense_Mutation_p.R107Q	0,1	1		benign(0.01)	p.R231Q	NM_006528	NP_006519	T:0	tolerated(0.53)	0,1	TFPI2_HUMAN	TFPI2	HGNC	P48307	TFPI2_HUMAN	STAD - Stomach adenocarcinoma(171;0.000967)		Q8NE89_HUMAN,Q8NAK6_HUMAN		5	767	-	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		UPI00000362E2	231					SNV	TFPI2,missense_variant,p.Arg231Gln,ENST00000222543,NM_001271004.1,NM_001271003.1,NM_006528.3;TFPI2,missense_variant,p.Arg120Gln,ENST00000545378,;TFPI2,3_prime_UTR_variant,,ENST00000451238,;GNGT1,intron_variant,,ENST00000455502,;AC002076.10,upstream_gene_variant,,ENST00000435257,;TFPI2,downstream_gene_variant,,ENST00000461482,;	uc003umy.1	c.692G>A	1005/2444	1	1			c.692G>A						7	SNP	c.(691-693)CGG>CAG	16	16			pancreas(1)	1	Broad	tissue factor pathway inhibitor 2 precursor			93516148		0.328	ENSG00000105825	15565	g.chr7:93516148C>T	blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity							81.101334	KEEP	21	16	-1	90	96	21	16	-1	101.025885	90	96	0.175	1	0	0	0	0	1	0	0	0	--	--		0	T			GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_3'UTR|TFPI2_uc003una.1_Missense_Mutation_p.R220Q|TFPI2_uc003unb.1_Missense_Mutation_p.R237Q|TFPI2_uc010lfg.1_Missense_Mutation_p.R107Q	87	GBM-06-2564-TP	p.R231Q	C	TTGCTTCTTCCGAATTTTCCG	NM_006528	NP_006519	93516148	P48307	TFPI2_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.000967)		5	767	-	T	T	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		Missense_Mutation	231						
TFPI2	0	broad.mit.edu	GRCh37	7	93519537	93519537	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-5134-01	TCGA-26-5134-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222543.5:c.183C>T	p.Cys61=	p.C61=	ENST00000222543	NM_001271004.1	61	tgC/tgT	0			1			A	C	uc003umy.1	protein_coding	YES	CCDS5632.1			183/708									pancreas(1)	1	c.(181-183)TGC>TGT			PROSITE_profiles:PS50279,hmmpanther:PTHR10083,hmmpanther:PTHR10083:SF89,Gene3D:4.10.410.10,Pfam_domain:PF00014,PIRSF_domain:PIRSF001620,SMART_domains:SM00131,Superfamily_domains:SSF57362,Prints_domain:PR00759	tissue factor pathway inhibitor 2 precursor				ENSP00000222543		5-Feb									COSM3412498	5-Feb	.		ENST00000222543	Transcript			blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	ENSG00000105825	g.chr7:93519537G>A	11761			LOW								--	--	1																																		GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.C61C|TFPI2_uc003una.1_Silent_p.C50C|TFPI2_uc003unb.1_Silent_p.C61C|TFPI2_uc010lfg.1_Intron	1	1			p.C61C	NM_006528	NP_006519			1	TFPI2_HUMAN	TFPI2	HGNC	P48307	TFPI2_HUMAN	STAD - Stomach adenocarcinoma(171;0.000967)		Q8NE89_HUMAN,Q8NAK6_HUMAN		2	258	-	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		UPI00000362E2	61			BPTI/Kunitz inhibitor 1.		SNV	TFPI2,synonymous_variant,p.=,ENST00000222543,NM_001271004.1,NM_001271003.1,NM_006528.3;TFPI2,synonymous_variant,p.=,ENST00000545378,;GNGT1,intron_variant,,ENST00000455502,;TFPI2,upstream_gene_variant,,ENST00000451238,;AC002076.10,upstream_gene_variant,,ENST00000435257,;TFPI2,non_coding_transcript_exon_variant,,ENST00000461482,;	uc003umy.1	c.183C>T	496/2444	1	1			c.183C>T						7	SNP	c.(181-183)TGC>TGT	53	53			pancreas(1)	1	Broad	tissue factor pathway inhibitor 2 precursor			93519537		0.577	ENSG00000105825	15565	g.chr7:93519537G>A	blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity							-10.918449	KEEP	2	1	-1	51	52	2	1	-1	6.447637	51	52	0.039474	1	0	0	0	0	0	0	1	0	--	--		0	A			GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.C61C|TFPI2_uc003una.1_Silent_p.C50C|TFPI2_uc003unb.1_Silent_p.C61C|TFPI2_uc010lfg.1_Intron	183	GBM-26-5134-TP	p.C61C	G	GGAACTGGCGGCAGCTCTGCG	NM_006528	NP_006519	93519537	P48307	TFPI2_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.000967)		2	258	-	A	A	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		Silent	61			BPTI/Kunitz inhibitor 1.			
TFPI2	0	broad.mit.edu	GRCh37	7	93519456	93519456	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222543.5:c.264G>A	p.Arg88=	p.R88=	ENST00000222543	NM_001271004.1	88	agG/agA	0			1			T	R	uc003umy.1	protein_coding	YES	CCDS5632.1			264/708									pancreas(1)	1	c.(262-264)AGG>AGA			hmmpanther:PTHR10083,hmmpanther:PTHR10083:SF89,PIRSF_domain:PIRSF001620,Superfamily_domains:SSF57362	tissue factor pathway inhibitor 2 precursor				ENSP00000222543		5-Feb									COSM3412497	5-Feb	.		ENST00000222543	Transcript			blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	ENSG00000105825	g.chr7:93519456C>T	11761			LOW								--	--	1																																		GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.R88R|TFPI2_uc003una.1_Silent_p.R77R|TFPI2_uc003unb.1_Silent_p.R88R|TFPI2_uc010lfg.1_Intron	1	1			p.R88R	NM_006528	NP_006519			1	TFPI2_HUMAN	TFPI2	HGNC	P48307	TFPI2_HUMAN	STAD - Stomach adenocarcinoma(171;0.000967)		Q8NE89_HUMAN,Q8NAK6_HUMAN		2	339	-	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		UPI00000362E2	88					SNV	TFPI2,synonymous_variant,p.=,ENST00000222543,NM_001271004.1,NM_001271003.1,NM_006528.3;TFPI2,synonymous_variant,p.=,ENST00000545378,;TFPI2,synonymous_variant,p.=,ENST00000451238,;GNGT1,intron_variant,,ENST00000455502,;AC002076.10,upstream_gene_variant,,ENST00000435257,;TFPI2,non_coding_transcript_exon_variant,,ENST00000461482,;	uc003umy.1	c.264G>A	577/2444	2	2			c.264G>A						7	SNP	c.(262-264)AGG>AGA	21	21			pancreas(1)	1	Broad	tissue factor pathway inhibitor 2 precursor			93519456		0.617	ENSG00000105825	15565	g.chr7:93519456C>T	blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity							88.028997	KEEP	18	16	-1	39	46	18	16	-1	91.674399	39	46	0.305556	1	0	0	0	0	0	0	1	0	--	--		0	T			GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.R88R|TFPI2_uc003una.1_Silent_p.R77R|TFPI2_uc003unb.1_Silent_p.R88R|TFPI2_uc010lfg.1_Intron	271	GBM-76-4932-TP	p.R88R	C	TACTTTCTATCCTCCAGCAAG	NM_006528	NP_006519	93519456	P48307	TFPI2_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.000967)		2	339	-	T	T	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		Silent	88						
TFPI2	7980		GRCh37	7	93516588	93516588	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000222543.5:c.616C>T	p.Arg206Cys	p.R206C	ENST00000222543	NM_001271004.1	206	Cgt/Tgt	0																																																																																																																																																																																																																																												
TFPT	29844	broad.mit.edu	GRCh37	19	54617886	54617886	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01	TCGA-06-2565-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000391759.1:c.218G>A	p.Arg73His	p.R73H	ENST00000391759	NM_013342.3	73	cGc/cAc	0			1			T	R/H	uc010yej.1	protein_coding	YES	CCDS12878.1			218/762	T		TCF3		pre-B ALL					0	c.(217-219)CGC>CAC			Low_complexity_(Seg):seg	TCF3 (E2A) fusion partner				ENSP00000375639		6-Feb									COSM2153019	6-Feb	.		ENST00000391759	Transcript			apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding	ENSG00000105619	g.chr19:54617886C>T	13630			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=TFPT_HUMAN&rb=1&re=200&var=R73H	NA	getma.org/?cm=var&var=hg19,19,54617886,C,T&fts=all	R73H	--	--	1																																		TFPT_uc010erd.2_Missense_Mutation_p.R73H|PRPF31_uc002qdh.2_5'Flank|PRPF31_uc010yek.1_5'Flank	1	1		benign(0.201)	p.R73H	NM_013342	NP_037474		tolerated(0.11)	1	TFPT_HUMAN	TFPT	HGNC	P0C1Z6	TFPT_HUMAN			G5E9B5_HUMAN		2	624	-	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)		UPI000006CFD4	73					SNV	TFPT,missense_variant,p.Arg73His,ENST00000391759,NM_013342.3;TFPT,missense_variant,p.Arg64His,ENST00000391758,;TFPT,missense_variant,p.Arg73His,ENST00000391757,;PRPF31,upstream_gene_variant,,ENST00000321030,NM_015629.3;PRPF31,upstream_gene_variant,,ENST00000391755,;PRPF31,upstream_gene_variant,,ENST00000419967,;PRPF31,upstream_gene_variant,,ENST00000445811,;PRPF31,upstream_gene_variant,,ENST00000445124,;PRPF31,upstream_gene_variant,,ENST00000447810,;PRPF31,upstream_gene_variant,,ENST00000498612,;TFPT,missense_variant,p.Arg73His,ENST00000420715,;PRPF31,upstream_gene_variant,,ENST00000466404,;PRPF31,upstream_gene_variant,,ENST00000467851,;	uc010yej.1	c.218G>A	624/1205	1	1			c.218G>A	T		TCF3		pre-B ALL	19	SNP	c.(217-219)CGC>CAC	2	2				0	Broad	TCF3 (E2A) fusion partner			54617886		0.652	ENSG00000105619	15566	g.chr19:54617886C>T	apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding			208			208	151.992341	KEEP	30	39	-1	69	95	30	39	-1	159.506513	69	95	0.297561	1	0	0	0	0	1	0	0	0	--	--		0	T			TFPT_uc010erd.2_Missense_Mutation_p.R73H|PRPF31_uc002qdh.2_5'Flank|PRPF31_uc010yek.1_5'Flank	88	GBM-06-2565-TP	p.R73H	C	TTCCCGCTGGCGCCGCCGCCG	NM_013342	NP_037474	54617886	P0C1Z6	TFPT_HUMAN	0			2	624	-	T	T	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)		Missense_Mutation	73						
TG	7038	broad.mit.edu	GRCh37	8	133879299	133879299	+	synonymous_variant	Silent	SNP	G	G	A	rs145163419	byFrequency	TCGA-06-0188-01	TCGA-06-0188-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000220616.4:c.54G>A	p.Ser18=	p.S18=	ENST00000220616	NM_003235.4	18	tcG/tcA	0	A:0.0002		1			A	S	uc003ytw.2	protein_coding	YES	CCDS34944.1			54/8307									ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	c.(52-54)TCG>TCA			PIRSF_domain:PIRSF001831,Cleavage_site_(Signalp):SignalP-noTM	thyroglobulin precursor			A:0.0005	ENSP00000220616		Jan-48	9.89E-05	0.000192	0.000474	0.000277		0.000237			rs145163419,COSM2150602	Jan-48	common_variant		ENST00000220616	Transcript	1		hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	ENSG00000042832	g.chr8:133879299G>A	11764			LOW								--	--	1																																			0,1	1			p.S18S	NM_003235	NP_003226			0,1	THYG_HUMAN	TG	HGNC	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN		1	95	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	UPI000013C79F	18					SNV	TG,synonymous_variant,p.=,ENST00000220616,NM_003235.4;TG,synonymous_variant,p.=,ENST00000377869,;TG,synonymous_variant,p.=,ENST00000523901,;	uc003ytw.2	c.54G>A	94/8450	1	1			c.54G>A						8	SNP	c.(52-54)TCG>TCA	55	55			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Broad	thyroglobulin precursor			133879299		0.483	ENSG00000042832	15569	g.chr8:133879299G>A	hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			1778			1778	35.722357	KEEP	7	6	-1	10	6	7	6	-1	35.800674	10	6	0.44	1	0	0	0	0	0	0	1	0	--	--		0	A				41	GBM-06-0188-TP	p.S18S	G	GCTGGGTGTCGGCCAATATCT	NM_003235	NP_003226	133879299	P01266	THYG_HUMAN	0	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	1	95	+	A	A	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	Silent	18						
TG	7038	broad.mit.edu	GRCh37	8	134042090	134042090	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-06-2559-01	TCGA-06-2559-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000220616.4:c.7065del	p.Leu2356CysfsTer8	p.L2356Cfs*8	ENST00000220616	NM_003235.4	2354	tGg/tg	0			1			-	W/X	uc003ytw.2	protein_coding	YES	CCDS34944.1			7061/8307									ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	c.(7060-7062)TGGfs			Gene3D:3.40.50.1820,Pfam_domain:PF00135,PIRSF_domain:PIRSF001831,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF142,Superfamily_domains:SSF53474	thyroglobulin precursor				ENSP00000220616		41/48									COSM2152683	41/48	.		ENST00000220616	Transcript	1		hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	ENSG00000042832	g.chr8:134042090delG	11764	4		HIGH								--	--	1																																		TG_uc010mdw.2_Frame_Shift_Del_p.W1113fs|TG_uc011ljb.1_Frame_Shift_Del_p.W723fs|TG_uc011ljc.1_Frame_Shift_Del_p.W487fs	1	1			p.W2354fs	NM_003235	NP_003226			1	THYG_HUMAN	TG	HGNC	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN		41	7102	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	UPI000013C79F	2354					deletion	TG,frameshift_variant,p.Leu2356CysfsTer8,ENST00000220616,NM_003235.4;TG,frameshift_variant,p.Leu2299CysfsTer8,ENST00000377869,;TG,frameshift_variant,p.Leu812CysfsTer8,ENST00000519178,;TG,frameshift_variant,p.Leu726CysfsTer8,ENST00000542445,;TG,frameshift_variant,p.Leu489CysfsTer8,ENST00000519543,;TG,frameshift_variant,p.Leu152CysfsTer8,ENST00000518108,;TG,3_prime_UTR_variant,,ENST00000523756,;	uc003ytw.2	c.7061delG	7101/8450	5	5			c.7061delG						8	DEL	c.(7060-7062)TGGfs	36	36			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Broad	thyroglobulin precursor			134042090		0.577	ENSG00000042832	15569	g.chr8:134042090delG	hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			1778			1778														0.47	1	1	0	1	0	0	0	0	0	--	--		0	-			TG_uc010mdw.2_Frame_Shift_Del_p.W1113fs|TG_uc011ljb.1_Frame_Shift_Del_p.W723fs|TG_uc011ljc.1_Frame_Shift_Del_p.W487fs	83	GBM-06-2559-TP	p.W2354fs	G	AGTGGCAACTGGGGGCTGCTG	NM_003235	NP_003226	134042090	P01266	THYG_HUMAN	0	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	41	7102	+	-	-	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	Frame_Shift_Del	2354						
TG	7038	broad.mit.edu	GRCh37	8	133880437	133880437	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000220616.4:c.145G>A	p.Val49Met	p.V49M	ENST00000220616	NM_003235.4	49	Gtg/Atg	0	A:0		1			A	V/M	uc003ytw.2	protein_coding	YES	CCDS34944.1			145/8307									ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	c.(145-147)GTG>ATG			Gene3D:4.10.800.10,Pfam_domain:PF00086,PIRSF_domain:PIRSF001831,PROSITE_patterns:PS00484,PROSITE_profiles:PS51162,SMART_domains:SM00211,Superfamily_domains:SSF57610	thyroglobulin precursor			A:0.0002	ENSP00000220616		Feb-48	0.00042	9.63E-05		0.000231	0.000151	0.00069	0.0011		rs371271403,COSM3412765	Feb-48	common_variant		ENST00000220616	Transcript	1		hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	ENSG00000042832	g.chr8:133880437G>A	11764			MODERATE		2.71	medium	getma.org/?cm=msa&ty=f&p=THYG_HUMAN&rb=31&re=92&var=V49M	getma.org/pdb.php?prot=THYG_HUMAN&from=31&to=92&var=V49M	getma.org/?cm=var&var=hg19,8,133880437,G,A&fts=all	V49M	--	--	1																																			0,1	1		probably_damaging(0.979)	p.V49M	NM_003235	NP_003226		deleterious(0)	0,1	THYG_HUMAN	TG	HGNC	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN		2	186	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	UPI000013C79F	49			Thyroglobulin type-1 1.		SNV	TG,missense_variant,p.Val49Met,ENST00000220616,NM_003235.4;TG,missense_variant,p.Val49Met,ENST00000377869,;TG,missense_variant,p.Val49Met,ENST00000523901,;	uc003ytw.2	c.145G>A	185/8450	1	1			c.145G>A						8	SNP	c.(145-147)GTG>ATG	56	56			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Broad	thyroglobulin precursor			133880437		0.532	ENSG00000042832	15569	g.chr8:133880437G>A	hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			1778			1778	158.726203	KEEP	17	34	-1	7	9	17	34	-1	162.361666	7	9	0.75	1	0	0	0	0	1	0	0	0	--	--		0	A				102	GBM-06-5858-TP	p.V49M	G	AGCAGACTACGTGCCCCAGTG	NM_003235	NP_003226	133880437	P01266	THYG_HUMAN	0	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	2	186	+	A	A	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	Missense_Mutation	49			Thyroglobulin type-1 1.			
TG	0	broad.mit.edu	GRCh37	8	133880390	133880390	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1034-01	TCGA-14-1034-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000220616.4:c.98C>T	p.Pro33Leu	p.P33L	ENST00000220616	NM_003235.4	33	cCc/cTc	0			1			T	P/L	uc003ytw.2	protein_coding	YES	CCDS34944.1			98/8307									ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	c.(97-99)CCC>CTC			PIRSF_domain:PIRSF001831,PROSITE_profiles:PS51162,Superfamily_domains:SSF57610	thyroglobulin precursor				ENSP00000220616		Feb-48									COSM2155229	Feb-48	.		ENST00000220616	Transcript	1		hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	ENSG00000042832	g.chr8:133880390C>T	11764			MODERATE		2.335	medium	getma.org/?cm=msa&ty=f&p=THYG_HUMAN&rb=31&re=92&var=P33L	NA	getma.org/?cm=var&var=hg19,8,133880390,C,T&fts=all	P33L	--	--	1																																			1	1		probably_damaging(0.997)	p.P33L	NM_003235	NP_003226		deleterious(0.02)	1	THYG_HUMAN	TG	HGNC	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN		2	139	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	UPI000013C79F	33			Thyroglobulin type-1 1.		SNV	TG,missense_variant,p.Pro33Leu,ENST00000220616,NM_003235.4;TG,missense_variant,p.Pro33Leu,ENST00000377869,;TG,missense_variant,p.Pro33Leu,ENST00000523901,;	uc003ytw.2	c.98C>T	138/8450	2	2			c.98C>T						8	SNP	c.(97-99)CCC>CTC	48	48			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Broad	thyroglobulin precursor			133880390		0.552	ENSG00000042832	15569	g.chr8:133880390C>T	hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			1778			1778	71.274487	KEEP	14	14	-1	27	31	14	14	-1	73.432953	27	31	0.32	1	0	0	0	0	1	0	0	0	--	--		0	T				142	GBM-14-1034-TP	p.P33L	C	CCCCTTCGTCCCTGTGAGCTG	NM_003235	NP_003226	133880390	P01266	THYG_HUMAN	0	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	2	139	+	T	T	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	Missense_Mutation	33			Thyroglobulin type-1 1.			
TG	0	broad.mit.edu	GRCh37	8	133925395	133925395	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-1747-01	TCGA-28-1747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000220616.4:c.4263C>T	p.Thr1421=	p.T1421=	ENST00000220616	NM_003235.4	1421	acC/acT	0			1			T	T	uc003ytw.2	protein_coding	YES	CCDS34944.1			4263/8307									ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	c.(4261-4263)ACC>ACT			PIRSF_domain:PIRSF001831	thyroglobulin precursor				ENSP00000220616		20/48									COSM3412766	20/48	.		ENST00000220616	Transcript	1		hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	ENSG00000042832	g.chr8:133925395C>T	11764			LOW								--	--	1																																		TG_uc010mdw.2_Silent_p.T180T	1	1			p.T1421T	NM_003235	NP_003226			1	THYG_HUMAN	TG	HGNC	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN		20	4304	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	UPI000013C79F	1421					SNV	TG,synonymous_variant,p.=,ENST00000220616,NM_003235.4;TG,synonymous_variant,p.=,ENST00000377869,;TG,3_prime_UTR_variant,,ENST00000523756,;	uc003ytw.2	c.4263C>T	4303/8450	2	2			c.4263C>T						8	SNP	c.(4261-4263)ACC>ACT	44	44			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Broad	thyroglobulin precursor			133925395		0.562	ENSG00000042832	15569	g.chr8:133925395C>T	hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			1778			1778	138.071382	KEEP	25	26	-1	42	27	25	26	-1	138.721776	42	27	0.416667	1	0	0	0	0	0	0	1	0	--	--		0	T			TG_uc010mdw.2_Silent_p.T180T	206	GBM-28-1747-TP	p.T1421T	C	CAGCGGAAACCATCCGCTTCC	NM_003235	NP_003226	133925395	P01266	THYG_HUMAN	0	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	20	4304	+	T	T	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	Silent	1421						
TG	0	broad.mit.edu	GRCh37	8	134107432	134107432	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01	TCGA-76-4927-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000220616.4:c.7384C>T	p.Leu2462Phe	p.L2462F	ENST00000220616	NM_003235.4	2462	Ctc/Ttc	0			1			T	L/F	uc003ytw.2	protein_coding	YES	CCDS34944.1			7384/8307									ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	c.(7384-7386)CTC>TTC			Gene3D:3.40.50.1820,Pfam_domain:PF00135,PIRSF_domain:PIRSF001831,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF142,Superfamily_domains:SSF53474	thyroglobulin precursor				ENSP00000220616		42/48									COSM3412768	42/48	.		ENST00000220616	Transcript	1		hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	ENSG00000042832	g.chr8:134107432C>T	11764			MODERATE		2.295	medium	getma.org/?cm=msa&ty=f&p=THYG_HUMAN&rb=2186&re=2718&var=L2462F	getma.org/pdb.php?prot=THYG_HUMAN&from=2186&to=2718&var=L2462F	getma.org/?cm=var&var=hg19,8,134107432,C,T&fts=all	L2462F	--	--	1																																		TG_uc010mdw.2_Missense_Mutation_p.L1221F|TG_uc011ljb.1_Missense_Mutation_p.L831F|TG_uc011ljc.1_Missense_Mutation_p.L595F|SLA_uc003ytz.2_Intron|SLA_uc011lje.1_Intron|SLA_uc011ljf.1_Intron|SLA_uc011ljg.1_Intron|SLA_uc010mea.2_Intron	1	1		probably_damaging(0.959)	p.L2462F	NM_003235	NP_003226		deleterious(0.01)	1	THYG_HUMAN	TG	HGNC	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN		42	7425	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	UPI000013C79F	2462					SNV	TG,missense_variant,p.Leu2462Phe,ENST00000220616,NM_003235.4;TG,missense_variant,p.Leu2405Phe,ENST00000377869,;TG,missense_variant,p.Leu832Phe,ENST00000542445,;TG,missense_variant,p.Leu918Phe,ENST00000519178,;TG,missense_variant,p.Leu595Phe,ENST00000519543,;SLA,intron_variant,,ENST00000338087,NM_001045556.2;SLA,intron_variant,,ENST00000395352,NM_001045557.2;SLA,intron_variant,,ENST00000524345,NM_001282965.1;SLA,intron_variant,,ENST00000517648,NM_001282964.1;SLA,intron_variant,,ENST00000519341,;SLA,intron_variant,,ENST00000522119,;SLA,intron_variant,,ENST00000521302,;SLA,intron_variant,,ENST00000523610,;SLA,intron_variant,,ENST00000519558,;SLA,intron_variant,,ENST00000519747,;SLA,intron_variant,,ENST00000518565,;SLA,intron_variant,,ENST00000521823,;SLA,intron_variant,,ENST00000517932,;SLA,intron_variant,,ENST00000522946,;TG,3_prime_UTR_variant,,ENST00000523756,;TG,non_coding_transcript_exon_variant,,ENST00000522996,;TG,non_coding_transcript_exon_variant,,ENST00000522809,;	uc003ytw.2	c.7384C>T	7424/8450	1	1			c.7384C>T						8	SNP	c.(7384-7386)CTC>TTC	5	5			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Broad	thyroglobulin precursor			134107432		0.448	ENSG00000042832	15569	g.chr8:134107432C>T	hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			1778			1778	139.976521	KEEP	51	47	-1	116	174	51	47	-1	155.822995	116	174	0.226087	1	0	0	0	0	1	0	0	0	--	--		0	T			TG_uc010mdw.2_Missense_Mutation_p.L1221F|TG_uc011ljb.1_Missense_Mutation_p.L831F|TG_uc011ljc.1_Missense_Mutation_p.L595F|SLA_uc003ytz.2_Intron|SLA_uc011lje.1_Intron|SLA_uc011ljf.1_Intron|SLA_uc011ljg.1_Intron|SLA_uc010mea.2_Intron	267	GBM-76-4927-TP	p.L2462F	C	TGCCAATGTCCTCAATGATGC	NM_003235	NP_003226	134107432	P01266	THYG_HUMAN	0	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	42	7425	+	T	T	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	Missense_Mutation	2462						
TG	7038		GRCh37	8	134144071	134144071	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000220616.4:c.7878G>A	p.Ala2626=	p.A2626=	ENST00000220616	NM_003235.4	2626	gcG/gcA	0																																																																																																																																																																																																																																												
TG	7038		GRCh37	8	133879248	133879248	+	start_lost	Translation_Start_Site	SNP	G	G	A			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000220616.4:c.3G>A	p.Met1?	p.M1?	ENST00000220616	NM_003235.4	1	atG/atA	0																																																																																																																																																																																																																																												
TGDS	23483	broad.mit.edu	GRCh37	13	95233375	95233375	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-5858-01	TCGA-06-5858-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261296.5:c.525T>G	p.Cys175Trp	p.C175W	ENST00000261296	NM_014305.2	175	tgT/tgG	0			1			C	C/W	uc001vlw.2	protein_coding	YES	CCDS9471.1			525/1053										0	c.(523-525)TGT>TGG			Superfamily_domains:SSF51735,Pfam_domain:PF01370,Gene3D:3.40.50.720,hmmpanther:PTHR10366:SF41,hmmpanther:PTHR10366	TDP-glucose 4,6-dehydratase				ENSP00000261296		12-Jun									COSM3399459	12-Jun	.		ENST00000261296	Transcript	1		cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding	ENSG00000088451	g.chr13:95233375A>C	20324			MODERATE		1.12	low	getma.org/?cm=msa&ty=f&p=TGDS_HUMAN&rb=20&re=258&var=C175W	getma.org/pdb.php?prot=TGDS_HUMAN&from=20&to=258&var=C175W	getma.org/?cm=var&var=hg19,13,95233375,A,C&fts=all	C175W	--	--	1																																		TGDS_uc001vlx.2_RNA	1	1		possibly_damaging(0.796)	p.C175W	NM_014305	NP_055120		tolerated(0.15)	1	TGDS_HUMAN	TGDS	HGNC	O95455	TGDS_HUMAN			Q2TU31_HUMAN		6	646	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		UPI000006E8F4	175					SNV	TGDS,missense_variant,p.Cys175Trp,ENST00000261296,NM_014305.2;TGDS,non_coding_transcript_exon_variant,,ENST00000498294,;TGDS,non_coding_transcript_exon_variant,,ENST00000470480,;	uc001vlw.2	c.525T>G	646/1902	3	3			c.525T>G						13	SNP	c.(523-525)TGT>TGG	63	63				0	Broad	TDP-glucose 4,6-dehydratase			95233375		0.318	ENSG00000088451	15570	g.chr13:95233375A>C	cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding							175.264372	KEEP	28	31	-1	16	28	28	31	-1	175.590237	16	28	0.567901	1	0	0	0	0	1	0	0	0	--	--		0	C			TGDS_uc001vlx.2_RNA	102	GBM-06-5858-TP	p.C175W	A	ACTGTACAAAACATTCAGCAG	NM_014305	NP_055120	95233375	O95455	TGDS_HUMAN	0			6	646	-	C	C	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		Missense_Mutation	175						
TGFA	7039	broad.mit.edu	GRCh37	2	70680446	70680446	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0686-01	TCGA-06-0686-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295400.6:c.379C>T	p.Arg127Ter	p.R127*	ENST00000295400	NM_001099691.2	127	Cga/Tga	0			1			A	R/*	uc002sgs.3	protein_coding	YES	CCDS1905.1			379/483									prostate(1)	1	c.(379-381)CGA>TGA			hmmpanther:PTHR10740:SF1,hmmpanther:PTHR10740	transforming growth factor, alpha isoform 1				ENSP00000295400		6-May	8.24E-06							6.09E-05	rs782253342,COSM2151576	6-May	.		ENST00000295400	Transcript	1		activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity	ENSG00000163235	g.chr2:70680446G>A	11765			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,70680446,G,A&fts=all	R127*	--	--	1																																		TGFA_uc010fdq.2_Nonsense_Mutation_p.R133*|TGFA_uc010fdr.2_Nonsense_Mutation_p.R132*|TGFA_uc002sgt.3_Nonsense_Mutation_p.R126*|TGFA_uc002sgu.2_Nonsense_Mutation_p.R126*|TGFA_uc002sgv.2_Nonsense_Mutation_p.R127*|TGFA_uc002sgw.2_Nonsense_Mutation_p.R126*	0,1	1			p.R127*	NM_003236	NP_003227			0,1	TGFA_HUMAN	TGFA	HGNC	P01135	TGFA_HUMAN			Q9UQ91_HUMAN,Q9UIS3_HUMAN,Q6QBS1_HUMAN		5	585	-			UPI0000006BEF	127			Cytoplasmic (Potential).		SNV	TGFA,stop_gained,p.Arg127Ter,ENST00000295400,NM_001099691.2,NM_003236.3;TGFA,stop_gained,p.Arg126Ter,ENST00000418333,;TGFA,stop_gained,p.Arg133Ter,ENST00000444975,;TGFA,stop_gained,p.Arg132Ter,ENST00000450929,;TGFA,stop_gained,p.Arg126Ter,ENST00000445399,;TGFA,stop_gained,p.Arg95Ter,ENST00000419940,;TGFA,downstream_gene_variant,,ENST00000394241,;AC017084.1,downstream_gene_variant,,ENST00000401177,;TGFA,downstream_gene_variant,,ENST00000460808,;	uc002sgs.3	c.379C>T	627/4310	5	1			c.379C>T						2	SNP	c.(379-381)CGA>TGA	49	49			prostate(1)	1	Broad	transforming growth factor, alpha isoform 1			70680446		0.632	ENSG00000163235	15571	g.chr2:70680446G>A	activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity							188.387273	KEEP	41	23	-1	48	36	41	23	-1	188.705103	48	36	0.447761	1	0	0	0	0	0	1	0	0	--	--		0	A			TGFA_uc010fdq.2_Nonsense_Mutation_p.R133*|TGFA_uc010fdr.2_Nonsense_Mutation_p.R132*|TGFA_uc002sgt.3_Nonsense_Mutation_p.R126*|TGFA_uc002sgu.2_Nonsense_Mutation_p.R126*|TGFA_uc002sgv.2_Nonsense_Mutation_p.R127*|TGFA_uc002sgw.2_Nonsense_Mutation_p.R126*	64	GBM-06-0686-TP	p.R127*	G	CAGTGTTTTCGGACCTGGCAG	NM_003236	NP_003227	70680446	P01135	TGFA_HUMAN	0			5	585	-	A	A			Nonsense_Mutation	127			Cytoplasmic (Potential).			
TGFA	0	broad.mit.edu	GRCh37	2	70742029	70742029	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01	TCGA-19-2625-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295400.6:c.56C>T	p.Ala19Val	p.A19V	ENST00000295400	NM_001099691.2	19	gCg/gTg	0			1			A	A/V	uc002sgs.3	protein_coding	YES	CCDS1905.1			56/483									prostate(1)	1	c.(55-57)GCG>GTG			Cleavage_site_(Signalp):SignalP-noTM	transforming growth factor, alpha isoform 1				ENSP00000295400		6-Feb	1.65E-05					3.10E-05			rs782074408,COSM721978	6-Feb	.		ENST00000295400	Transcript	1		activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity	ENSG00000163235	g.chr2:70742029G>A	11765			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TGFA_HUMAN&rb=1&re=160&var=A19V	NA	getma.org/?cm=var&var=hg19,2,70742029,G,A&fts=all	A19V	--	--	1																																		TGFA_uc010fdq.2_Missense_Mutation_p.A25V|TGFA_uc010fdr.2_Missense_Mutation_p.A25V|TGFA_uc002sgt.3_Missense_Mutation_p.A19V|TGFA_uc002sgu.2_Missense_Mutation_p.A19V|TGFA_uc002sgv.2_Missense_Mutation_p.A19V|TGFA_uc002sgw.2_Missense_Mutation_p.A19V	0,1	1		benign(0.001)	p.A19V	NM_003236	NP_003227		tolerated_low_confidence(1)	0,1	TGFA_HUMAN	TGFA	HGNC	P01135	TGFA_HUMAN			Q9UQ91_HUMAN,Q9UIS3_HUMAN,Q6QBS1_HUMAN		2	262	-			UPI0000006BEF	19					SNV	TGFA,missense_variant,p.Ala19Val,ENST00000295400,NM_001099691.2,NM_003236.3;TGFA,missense_variant,p.Ala19Val,ENST00000418333,;TGFA,missense_variant,p.Ala25Val,ENST00000444975,;TGFA,missense_variant,p.Ala25Val,ENST00000450929,;TGFA,missense_variant,p.Ala19Val,ENST00000445399,;TGFA,missense_variant,p.Ala19Val,ENST00000394241,;TGFA,non_coding_transcript_exon_variant,,ENST00000460808,;TGFA,non_coding_transcript_exon_variant,,ENST00000474101,;	uc002sgs.3	c.56C>T	304/4310	1	1			c.56C>T						2	SNP	c.(55-57)GCG>GTG	64	64			prostate(1)	1	Broad	transforming growth factor, alpha isoform 1			70742029		0.597	ENSG00000163235	15571	g.chr2:70742029G>A	activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity							15.441372	KEEP	2	4	-1	8	7	2	4	-1	16.306719	8	7	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	A			TGFA_uc010fdq.2_Missense_Mutation_p.A25V|TGFA_uc010fdr.2_Missense_Mutation_p.A25V|TGFA_uc002sgt.3_Missense_Mutation_p.A19V|TGFA_uc002sgu.2_Missense_Mutation_p.A19V|TGFA_uc002sgv.2_Missense_Mutation_p.A19V|TGFA_uc002sgw.2_Missense_Mutation_p.A19V	165	GBM-19-2625-TP	p.A19V	G	GGCCTGGCACGCAGCCAACAC	NM_003236	NP_003227	70742029	P01135	TGFA_HUMAN	0			2	262	-	A	A			Missense_Mutation	19						
TGFA	7039		GRCh37	2	70742023	70742023	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000295400.6:c.62A>G	p.Gln21Arg	p.Q21R	ENST00000295400	NM_001099691.2	21	cAg/cGg	0																																																																																																																																																																																																																																												
TGFBI	0	broad.mit.edu	GRCh37	5	135385160	135385160	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-5958-01	TCGA-19-5958-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000442011.2:c.804G>T	p.Met268Ile	p.M268I	ENST00000442011	NM_000358.2	268	atG/atT	0			1			T	M/I	uc003lbf.3	protein_coding	YES	CCDS47266.1			804/2052									breast(3)|ovary(1)	4	c.(802-804)ATG>ATT			PROSITE_profiles:PS50213,hmmpanther:PTHR10900:SF74,hmmpanther:PTHR10900,Pfam_domain:PF02469,Gene3D:2.30.180.10,PIRSF_domain:PIRSF016553,Superfamily_domains:SSF82153	transforming growth factor, beta-induced, 68kDa				ENSP00000416330		17-Jul									COSM3409739	17-Jul	.		ENST00000442011	Transcript	1		angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	ENSG00000120708	g.chr5:135385160G>T	11771			MODERATE		-0.17	neutral	getma.org/?cm=msa&ty=f&p=BGH3_HUMAN&rb=251&re=373&var=M268I	getma.org/pdb.php?prot=BGH3_HUMAN&from=251&to=373&var=M268I	getma.org/?cm=var&var=hg19,5,135385160,G,T&fts=all	M268I	--	--	1																																		TGFBI_uc003lbg.3_Missense_Mutation_p.M1I|TGFBI_uc003lbh.3_Missense_Mutation_p.M94I|TGFBI_uc011cyb.1_Missense_Mutation_p.M94I|TGFBI_uc010jed.2_Missense_Mutation_p.M1I	1	1		benign(0.004)	p.M268I	NM_000358	NP_000349		tolerated(0.4)	1	BGH3_HUMAN	TGFBI	HGNC	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		D6RBX4_HUMAN,C7FFS5_HUMAN		7	965	+			UPI0000000C6A	268			FAS1 2.		SNV	TGFBI,missense_variant,p.Met268Ile,ENST00000442011,NM_000358.2;TGFBI,missense_variant,p.Met268Ile,ENST00000305126,;TGFBI,missense_variant,p.Met12Ile,ENST00000604555,;TGFBI,missense_variant,p.Met44Ile,ENST00000508767,;TGFBI,upstream_gene_variant,,ENST00000514554,;TGFBI,downstream_gene_variant,,ENST00000504185,;TGFBI,3_prime_UTR_variant,,ENST00000507018,;TGFBI,non_coding_transcript_exon_variant,,ENST00000515433,;TGFBI,non_coding_transcript_exon_variant,,ENST00000506699,;TGFBI,non_coding_transcript_exon_variant,,ENST00000509749,;TGFBI,upstream_gene_variant,,ENST00000509485,;	uc003lbf.3	c.804G>T	965/2804	2	2			c.804G>T						5	SNP	c.(802-804)ATG>ATT	43	43			breast(3)|ovary(1)	4	Broad	transforming growth factor, beta-induced, 68kDa			135385160		0.567	ENSG00000120708	15576	g.chr5:135385160G>T	angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding							46.283444	KEEP	12	10	0.545454545	17	23	12	10	0.545454545	47.722187	17	23	0.32	1	0	0	0	0	1	0	0	0	--	--		0	T			TGFBI_uc003lbg.3_Missense_Mutation_p.M1I|TGFBI_uc003lbh.3_Missense_Mutation_p.M94I|TGFBI_uc011cyb.1_Missense_Mutation_p.M94I|TGFBI_uc010jed.2_Missense_Mutation_p.M1I	176	GBM-19-5958-TP	p.M268I	G	TCAACACGATGCTTGAAGGTA	NM_000358	NP_000349	135385160	Q15582	BGH3_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		7	965	+	T	T			Missense_Mutation	268			FAS1 2.			
TGFBR1	7046	broad.mit.edu	GRCh37	9	101900167	101900167	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-02-2485-01	TCGA-02-2485-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374994.4:c.601A>G	p.Ile201Val	p.I201V	ENST00000374994	NM_004612.2	201	Att/Gtt	0			1			G	I/V	uc004azc.2	protein_coding	YES	CCDS6738.1			601/1512									lung(2)|ovary(1)	3	c.(601-603)ATT>GTT			PROSITE_profiles:PS51256,hmmpanther:PTHR23255:SF61,hmmpanther:PTHR23255,Pfam_domain:PF08515,Gene3D:3.30.200.20,SMART_domains:SM00467,Superfamily_domains:SSF56112	transforming growth factor, beta receptor I				ENSP00000364133		9-Apr	8.24E-06					1.50E-05			rs781042616,COSM3413199	9-Apr	.		ENST00000374994	Transcript	1		activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	ENSG00000106799	g.chr9:101900167A>G	11772			MODERATE		0.845	low	getma.org/?cm=msa&ty=f&p=TGFR1_HUMAN&rb=155&re=223&var=I201V	getma.org/pdb.php?prot=TGFR1_HUMAN&from=175&to=203&var=I201V	getma.org/?cm=var&var=hg19,9,101900167,A,G&fts=all	I201V	--	--	1																																		TGFBR1_uc004azd.2_Missense_Mutation_p.I124V|TGFBR1_uc011lvc.1_Missense_Mutation_p.I132V	0,1	1		probably_damaging(0.926)	p.I201V	NM_004612	NP_004603		tolerated(0.47)	0,1	TGFR1_HUMAN	TGFBR1	HGNC	P36897	TGFR1_HUMAN			Q5T7S2_HUMAN,F8VVC4_HUMAN,B4DY26_HUMAN		4	677	+		Acute lymphoblastic leukemia(62;0.0559)	UPI000011D62A	201			Cytoplasmic (Potential).|GS.		SNV	TGFBR1,missense_variant,p.Ile201Val,ENST00000374994,NM_004612.2;TGFBR1,missense_variant,p.Ile205Val,ENST00000552516,;TGFBR1,missense_variant,p.Ile124Val,ENST00000374990,NM_001130916.1;TGFBR1,missense_variant,p.Ile132Val,ENST00000550253,;TGFBR1,missense_variant,p.Ile55Val,ENST00000549021,;TGFBR1,missense_variant,p.Ile205Val,ENST00000549766,;	uc004azc.2	c.601A>G	718/6516	3	3			c.601A>G						9	SNP	c.(601-603)ATT>GTT	3	3			lung(2)|ovary(1)	3	Broad	transforming growth factor, beta receptor I			101900167		0.358	ENSG00000106799	15577	g.chr9:101900167A>G	activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			168			168	-17.762785	KEEP	3	1	-1	54	49	3	1	-1	6.486058	54	49	0.03	1	0	0	0	0	1	0	0	0	--	--		0	G			TGFBR1_uc004azd.2_Missense_Mutation_p.I124V|TGFBR1_uc011lvc.1_Missense_Mutation_p.I132V	7	GBM-02-2485-TP	p.I201V	A	TCAGAGAACAATTGCGAGAAC	NM_004612	NP_004603	101900167	P36897	TGFR1_HUMAN	0			4	677	+	G	G		Acute lymphoblastic leukemia(62;0.0559)	Missense_Mutation	201			Cytoplasmic (Potential).|GS.			
TGFBR2	7048	broad.mit.edu	GRCh37	3	30691812	30691812	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0649-01	TCGA-06-0649-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359013.4:c.389A>T	p.Lys130Met	p.K130M	ENST00000359013	NM_001024847.2	130	aAg/aTg	0			1			T	K/M	uc003ceo.2	protein_coding		CCDS2648.1			314/1704									pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26	c.(313-315)AAG>ATG			Superfamily_domains:SSF57302,PIRSF_domain:PIRSF037393,Pfam_domain:PF08917,Gene3D:2.10.60.10,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF55	transforming growth factor, beta receptor II				ENSP00000295754		7-Mar									COSM3408579,COSM3408578	7-Mar	.		ENST00000295754	Transcript	1		activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	ENSG00000163513	g.chr3:30691812A>T	11773			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=TGFR2_HUMAN&rb=47&re=165&var=K105M	getma.org/pdb.php?prot=TGFR2_HUMAN&from=47&to=165&var=K105M	getma.org/?cm=var&var=hg19,3,30691812,A,T&fts=all	K105M	--	--	1																																		TGFBR2_uc003cen.2_Missense_Mutation_p.K130M	1,1			benign(0.335)	p.K105M	NM_003242	NP_003233		tolerated(0.11)	1,1	TGFR2_HUMAN	TGFBR2	HGNC	P37173	TGFR2_HUMAN			A3QNQ0_HUMAN		3	696	+			UPI000011DD7E	105			Extracellular (Potential).		SNV	TGFBR2,missense_variant,p.Lys105Met,ENST00000295754,NM_003242.5;TGFBR2,missense_variant,p.Lys130Met,ENST00000359013,NM_001024847.2;	uc003ceo.2	c.314A>T	696/4621	2	2			c.314A>T						3	SNP	c.(313-315)AAG>ATG	32	32			pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26	Broad	transforming growth factor, beta receptor II			30691812		0.443	ENSG00000163513	15578	g.chr3:30691812A>T	activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			132			132	-6.073364	KEEP	8	7	-1	92	66	8	7	-1	20.230474	92	66	0.090323	1	0	0	0	0	1	0	0	0	--	--		0	T			TGFBR2_uc003cen.2_Missense_Mutation_p.K130M	62	GBM-06-0649-TP	p.K105M	A	CATGACCCCAAGCTCCCCTAC	NM_003242	NP_003233	30691812	P37173	TGFR2_HUMAN	0			3	696	+	T	T			Missense_Mutation	105			Extracellular (Potential).			
TGFBR2	7048	broad.mit.edu	GRCh37	3	30732972	30732972	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0875-01	TCGA-06-0875-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359013.4:c.1660C>T	p.Leu554Phe	p.L554F	ENST00000359013	NM_001024847.2	554	Ctc/Ttc	0			1			T	L/F	uc003ceo.2	protein_coding		CCDS2648.1			1585/1704									pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26	c.(1585-1587)CTC>TTC			Superfamily_domains:SSF56112,SMART_domains:SM00220,PIRSF_domain:PIRSF037393,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF55,PROSITE_profiles:PS50011	transforming growth factor, beta receptor II				ENSP00000295754		7-Jul									COSM2152001,COSM2152000	7-Jul	.		ENST00000295754	Transcript	1		activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	ENSG00000163513	g.chr3:30732972C>T	11773			MODERATE		2.44	medium	getma.org/?cm=msa&ty=f&p=TGFR2_HUMAN&rb=244&re=538&var=L529F	getma.org/pdb.php?prot=TGFR2_HUMAN&from=244&to=538&var=L529F	getma.org/?cm=var&var=hg19,3,30732972,C,T&fts=all	L529F	--	--	1																																		TGFBR2_uc003cen.2_Missense_Mutation_p.L554F	1,1			probably_damaging(0.998)	p.L529F	NM_003242	NP_003233		deleterious(0)	1,1	TGFR2_HUMAN	TGFBR2	HGNC	P37173	TGFR2_HUMAN			A3QNQ0_HUMAN		7	1967	+			UPI000011DD7E	529			Protein kinase.|Cytoplasmic (Potential).		SNV	TGFBR2,missense_variant,p.Leu529Phe,ENST00000295754,NM_003242.5;TGFBR2,missense_variant,p.Leu554Phe,ENST00000359013,NM_001024847.2;	uc003ceo.2	c.1585C>T	1967/4621	2	2			c.1585C>T						3	SNP	c.(1585-1587)CTC>TTC	41	41			pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26	Broad	transforming growth factor, beta receptor II			30732972		0.592	ENSG00000163513	15578	g.chr3:30732972C>T	activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			132			132	94.659966	KEEP	22	22	-1	78	93	22	22	-1	110.010326	78	93	0.209184	1	0	0	0	0	1	0	0	0	--	--		0	T			TGFBR2_uc003cen.2_Missense_Mutation_p.L554F	71	GBM-06-0875-TP	p.L529F	C	AGAGGCCCGTCTCACAGCCCA	NM_003242	NP_003233	30732972	P37173	TGFR2_HUMAN	0			7	1967	+	T	T			Missense_Mutation	529			Protein kinase.|Cytoplasmic (Potential).			
TGFBR3	0	broad.mit.edu	GRCh37	1	92178062	92178062	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5220-01	TCGA-28-5220-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000212355.4:c.1904C>T	p.Ala635Val	p.A635V	ENST00000212355	NM_001195683.1	635	gCc/gTc	0			1			A	A/V	uc001doh.2	protein_coding	YES	CCDS30770.1			1904/2556									ovary(3)	3	c.(1903-1905)GCC>GTC			PROSITE_profiles:PS51034,hmmpanther:PTHR14002,hmmpanther:PTHR14002:SF5,PROSITE_patterns:PS00682,Pfam_domain:PF00100,SMART_domains:SM00241,Prints_domain:PR00023	transforming growth factor, beta receptor III				ENSP00000212355		13/17									COSM3401085	13/17	.		ENST00000212355	Transcript	1		BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	ENSG00000069702	g.chr1:92178062G>A	11774			MODERATE		2.19	medium	getma.org/?cm=msa&ty=f&p=TGBR3_HUMAN&rb=455&re=726&var=A635V	getma.org/pdb.php?prot=TGBR3_HUMAN&from=455&to=726&var=A635V	getma.org/?cm=var&var=hg19,1,92178062,G,A&fts=all	A635V	--	--	1																																		TGFBR3_uc009wde.2_Intron|TGFBR3_uc010osy.1_Missense_Mutation_p.A593V|TGFBR3_uc001doi.2_Missense_Mutation_p.A634V|TGFBR3_uc001doj.2_Missense_Mutation_p.A634V	1	1		probably_damaging(0.943)	p.A635V	NM_003243	NP_003234		tolerated(0.41)	1	TGBR3_HUMAN	TGFBR3	HGNC	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	E9PAW7_HUMAN		13	2370	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	UPI000049D997	635		A -> T.	ZP.|Extracellular (Potential).		SNV	TGFBR3,missense_variant,p.Ala635Val,ENST00000212355,NM_001195683.1,NM_003243.4;TGFBR3,missense_variant,p.Ala634Val,ENST00000370399,NM_001195684.1;TGFBR3,missense_variant,p.Ala635Val,ENST00000525962,;TGFBR3,missense_variant,p.Ala634Val,ENST00000465892,;TGFBR3,3_prime_UTR_variant,,ENST00000532540,;TGFBR3,intron_variant,,ENST00000533089,;TGFBR3,upstream_gene_variant,,ENST00000470600,;	uc001doh.2	c.1904C>T	2370/6416	1	1			c.1904C>T						1	SNP	c.(1903-1905)GCC>GTC	51	51			ovary(3)	3	Broad	transforming growth factor, beta receptor III			92178062		0.368	ENSG00000069702	15579	g.chr1:92178062G>A	BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding							-37.056563	KEEP	3	1	-1	84	106	3	1	-1	6.473611	84	106	0.023256	1	0	0	0	0	1	0	0	0	--	--		0	A			TGFBR3_uc009wde.2_Intron|TGFBR3_uc010osy.1_Missense_Mutation_p.A593V|TGFBR3_uc001doi.2_Missense_Mutation_p.A634V|TGFBR3_uc001doj.2_Missense_Mutation_p.A634V	226	GBM-28-5220-TP	p.A635V	G	CGTTTGGATGGCAAATCCCAG	NM_003243	NP_003234	92178062	Q03167	TGBR3_HUMAN	0		all cancers(265;0.0108)|Epithelial(280;0.0825)	13	2370	-	A	A		all_lung(203;0.00719)|Lung NSC(277;0.0268)	Missense_Mutation	635		A -> T.	ZP.|Extracellular (Potential).			
TGIF2LX	90316	broad.mit.edu	GRCh37	X	89177186	89177186	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0237-01	TCGA-06-0237-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000561129.2:c.102G>A	p.Ser34=	p.S34=	ENST00000561129		34	tcG/tcA	0			1			A	S	uc004efe.2	protein_coding		CCDS14459.1			102/726									ovary(1)|skin(1)	2	c.(100-102)TCG>TCA			hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF16	TGFB-induced factor homeobox 2-like, X-linked				ENSP00000355119		2-Feb	1.65E-05					2.20E-05			rs200638786,COSM2151064	2-Feb	.		ENST00000283891	Transcript				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000153779	g.chrX:89177186G>A	18570			LOW								--	--	1																																			0,1				p.S34S	NM_138960	NP_620410			0,1	TF2LX_HUMAN	TGIF2LX	HGNC	Q8IUE1	TF2LX_HUMAN					2	151	+			UPI0000074793	34					SNV	TGIF2LX,synonymous_variant,p.=,ENST00000561129,;TGIF2LX,synonymous_variant,p.=,ENST00000283891,NM_138960.3;	uc004efe.2	c.102G>A	210/906	2	2			c.102G>A						23	SNP	c.(100-102)TCG>TCA	24	24			ovary(1)|skin(1)	2	Broad	TGFB-induced factor homeobox 2-like, X-linked			89177186		0.577	ENSG00000153779	15583	g.chrX:89177186G>A		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							162.882951	KEEP	30	46	-1	51	54	30	46	-1	163.403392	51	54	0.429752	1	0	0	0	0	0	0	1	0	--	--		0	A				54	GBM-06-0237-TP	p.S34S	G	CAATCATGTCGAGAAATAACG	NM_138960	NP_620410	89177186	Q8IUE1	TF2LX_HUMAN	0			2	151	+	A	A			Silent	34						
TGIF2LX	0	broad.mit.edu	GRCh37	X	89177576	89177576	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283891.5:c.492G>A	p.Lys164=	p.K164=	ENST00000283891	NM_138960.3	164	aaG/aaA	0			1			A	K	uc004efe.2	protein_coding		CCDS14459.1			492/726									ovary(1)|skin(1)	2	c.(490-492)AAG>AAA			hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF16	TGFB-induced factor homeobox 2-like, X-linked				ENSP00000355119		2-Feb									COSM3406652	2-Feb	.		ENST00000283891	Transcript				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000153779	g.chrX:89177576G>A	18570			LOW								--	--	1																																			1				p.K164K	NM_138960	NP_620410			1	TF2LX_HUMAN	TGIF2LX	HGNC	Q8IUE1	TF2LX_HUMAN					2	541	+			UPI0000074793	164					SNV	TGIF2LX,synonymous_variant,p.=,ENST00000561129,;TGIF2LX,synonymous_variant,p.=,ENST00000283891,NM_138960.3;	uc004efe.2	c.492G>A	600/906	2	2			c.492G>A						23	SNP	c.(490-492)AAG>AAA	46	46			ovary(1)|skin(1)	2	Broad	TGFB-induced factor homeobox 2-like, X-linked			89177576		0.592	ENSG00000153779	15583	g.chrX:89177576G>A		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							75.861535	KEEP	9	17	-1	7	9	9	17	-1	77.335679	7	9	0.733333	1	0	0	0	0	0	0	1	0	--	--		0	A				125	GBM-12-3649-TP	p.K164K	G	CCTTGCCAAAGGGCCAGATGT	NM_138960	NP_620410	89177576	Q8IUE1	TF2LX_HUMAN	0			2	541	+	A	A			Silent	164						
TGIF2LX	0	broad.mit.edu	GRCh37	X	89177514	89177514	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01	TCGA-32-4213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283891.5:c.430G>A	p.Ala144Thr	p.A144T	ENST00000283891	NM_138960.3	144	Gcc/Acc	0			1			A	A/T	uc004efe.2	protein_coding		CCDS14459.1			430/726									ovary(1)|skin(1)	2	c.(430-432)GCC>ACC			hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF16	TGFB-induced factor homeobox 2-like, X-linked				ENSP00000355119		2-Feb									COSM3406651	2-Feb	.		ENST00000283891	Transcript				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000153779	g.chrX:89177514G>A	18570			MODERATE		2.36	medium	getma.org/?cm=msa&ty=f&p=TF2LX_HUMAN&rb=108&re=241&var=A144T	NA	getma.org/?cm=var&var=hg19,X,89177514,G,A&fts=all	A144T	--	--	1																																			1			possibly_damaging(0.515)	p.A144T	NM_138960	NP_620410		tolerated(0.18)	1	TF2LX_HUMAN	TGIF2LX	HGNC	Q8IUE1	TF2LX_HUMAN					2	479	+			UPI0000074793	144					SNV	TGIF2LX,missense_variant,p.Ala144Thr,ENST00000561129,;TGIF2LX,missense_variant,p.Ala144Thr,ENST00000283891,NM_138960.3;	uc004efe.2	c.430G>A	538/906	2	2			c.430G>A						23	SNP	c.(430-432)GCC>ACC	32	32			ovary(1)|skin(1)	2	Broad	TGFB-induced factor homeobox 2-like, X-linked			89177514		0.582	ENSG00000153779	15583	g.chrX:89177514G>A		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							-21.875386	KEEP	2	1	-1	62	73	2	1	-1	6.698684	62	73	0.026087	1	0	0	0	0	1	0	0	0	--	--		0	A				247	GBM-32-4213-TP	p.A144T	G	GTCTGTGCCGGCCAAGTCAGG	NM_138960	NP_620410	89177514	Q8IUE1	TF2LX_HUMAN	0			2	479	+	A	A			Missense_Mutation	144						
TGIF2LY	90655	broad.mit.edu	GRCh37	Y	3447632	3447632	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01	TCGA-06-0174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321217.4:c.347G>A	p.Arg116His	p.R116H	ENST00000321217	NM_139214.2	116	cGt/cAt	0			1			A	R/H	uc004fqk.2	protein_coding	YES	CCDS14775.1			347/558										0	c.(346-348)CGT>CAT			hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF16,Gene3D:1.10.10.60,Superfamily_domains:SSF46689	TGFB-induced factor homeobox 2-like, Y-linked				ENSP00000318502		2-Feb	1.42E-05					5.36E-05			rs779833813,COSM3408053	2-Feb	.		ENST00000321217	Transcript				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000176679	g.chrY:3447632G>A	18569			MODERATE		0.205	neutral	getma.org/?cm=msa&ty=f&p=TF2LY_HUMAN&rb=108&re=185&var=R116H	NA	getma.org/?cm=var&var=hg19,Y,3447632,G,A&fts=all	R116H	--	--	1																																			0,1	1		benign(0.001)	p.R116H	NM_139214	NP_631960		deleterious(0.05)	0,1	TF2LY_HUMAN	TGIF2LY	HGNC	Q8IUE0	TF2LY_HUMAN					2	411	+			UPI0000074794	116					SNV	TGIF2LY,missense_variant,p.Arg116His,ENST00000559055,;TGIF2LY,missense_variant,p.Arg116His,ENST00000321217,NM_139214.2;	uc004fqk.2	c.347G>A	455/905	2	2			c.347G>A						24	SNP	c.(346-348)CGT>CAT	21	21				0	Broad	TGFB-induced factor homeobox 2-like, Y-linked			3447632		0.527	ENSG00000176679	15584	g.chrY:3447632G>A		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							346.546995	KEEP	76	69	-1	21	32	76	69	-1	366.221402	21	32	0.927928	1	0	0	0	0	1	0	0	0	--	--		0	A				37	GBM-06-0174-TP	p.R116H	G	CTTCAACAGCGTAGAAACGAC	NM_139214	NP_631960	3447632	Q8IUE0	TF2LY_HUMAN	0			2	411	+	A	A			Missense_Mutation	116						
TGM1	0	broad.mit.edu	GRCh37	14	24729739	24729739	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000206765.6:c.674G>A	p.Arg225His	p.R225H	ENST00000206765	NM_000359.2	225	cGc/cAc	0			1			T	R/H	uc001wod.2	protein_coding	YES	CCDS9622.1			674/2454									central_nervous_system(2)|ovary(1)	3	c.(673-675)CGC>CAC			Gene3D:2.60.40.10,Pfam_domain:PF00868,PIRSF_domain:PIRSF000459,hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF13,Superfamily_domains:SSF81296	transglutaminase 1	L-Glutamine(DB00130)			ENSP00000206765		15-Apr	4.12E-05	9.61E-05			0.000151	1.50E-05		0.000121	rs549195122,COSM2033051	15-Apr	.		ENST00000206765	Transcript	1		cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	ENSG00000092295	g.chr14:24729739C>T	11777			MODERATE		0.77	neutral	getma.org/?cm=msa&ty=f&p=TGM1_HUMAN&rb=110&re=229&var=R225H	getma.org/pdb.php?prot=TGM1_HUMAN&from=110&to=229&var=R225H	getma.org/?cm=var&var=hg19,14,24729739,C,T&fts=all	R225H	--	--	1																																		TGM1_uc010tog.1_Intron	0,1	1		probably_damaging(0.991)	p.R225H	NM_000359	NP_000350		tolerated(0.09)	0,1	TGM1_HUMAN	TGM1	HGNC	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	H0YNM4_HUMAN,H0YN27_HUMAN,H0YMQ8_HUMAN,H0YLT9_HUMAN,H0YLJ6_HUMAN,H0YKI6_HUMAN,B4DWR7_HUMAN		4	798	-			UPI000000164D	225		R -> P (in ARCI-TGM1).|R -> H (in ARCI-TGM1).			SNV	TGM1,missense_variant,p.Arg225His,ENST00000206765,NM_000359.2;TGM1,intron_variant,,ENST00000544573,;TGM1,upstream_gene_variant,,ENST00000559136,;TGM1,downstream_gene_variant,,ENST00000560226,;TGM1,downstream_gene_variant,,ENST00000560478,;TGM1,downstream_gene_variant,,ENST00000558074,;TGM1,downstream_gene_variant,,ENST00000560443,;TGM1,downstream_gene_variant,,ENST00000561067,;	uc001wod.2	c.674G>A	798/2777	2	2			c.674G>A						14	SNP	c.(673-675)CGC>CAC	29	29			central_nervous_system(2)|ovary(1)	3	Broad	transglutaminase 1		L-Glutamine(DB00130)	24729739		0.587	ENSG00000092295	15585	g.chr14:24729739C>T	cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity							-21.409443	KEEP	2	2	-1	69	73	2	2	-1	7.101922	69	73	0.033333	1	0	0	0	0	1	0	0	0	--	--		0	T			TGM1_uc010tog.1_Intron	160	GBM-19-1790-TP	p.R225H	C	TGATTGTGTGCGGACTGTGAA	NM_000359	NP_000350	24729739	P22735	TGM1_HUMAN	0		GBM - Glioblastoma multiforme(265;0.0186)	4	798	-	T	T			Missense_Mutation	225		R -> P (in ARCI-TGM1).|R -> H (in ARCI-TGM1).				
TGM1	0	broad.mit.edu	GRCh37	14	24730965	24730965	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-19-2631-01	TCGA-19-2631-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000206765.6:c.444T>C	p.His148=	p.H148=	ENST00000206765	NM_000359.2	148	caT/caC	0			1			G	H	uc001wod.2	protein_coding	YES	CCDS9622.1			444/2454									central_nervous_system(2)|ovary(1)	3	c.(442-444)CAT>CAC			Gene3D:2.60.40.10,Pfam_domain:PF00868,PIRSF_domain:PIRSF000459,hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF13,Superfamily_domains:SSF81296	transglutaminase 1	L-Glutamine(DB00130)			ENSP00000206765		15-Mar									COSM2156388	15-Mar	.		ENST00000206765	Transcript	1		cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	ENSG00000092295	g.chr14:24730965A>G	11777			LOW								--	--	1																																		TGM1_uc010tog.1_Intron	1	1			p.H148H	NM_000359	NP_000350			1	TGM1_HUMAN	TGM1	HGNC	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	H0YNM4_HUMAN,H0YN27_HUMAN,H0YMQ8_HUMAN,H0YLT9_HUMAN,H0YLJ6_HUMAN,H0YKI6_HUMAN,B4DWR7_HUMAN		3	568	-			UPI000000164D	148					SNV	TGM1,synonymous_variant,p.=,ENST00000206765,NM_000359.2;TGM1,intron_variant,,ENST00000544573,;RABGGTA,downstream_gene_variant,,ENST00000399409,NM_004581.5;RABGGTA,downstream_gene_variant,,ENST00000216840,NM_182836.2;RABGGTA,downstream_gene_variant,,ENST00000560777,;TGM1,upstream_gene_variant,,ENST00000559136,;RABGGTA,downstream_gene_variant,,ENST00000560521,;TGM1,downstream_gene_variant,,ENST00000560226,;TGM1,downstream_gene_variant,,ENST00000560478,;TGM1,downstream_gene_variant,,ENST00000558074,;TGM1,downstream_gene_variant,,ENST00000560443,;TGM1,downstream_gene_variant,,ENST00000561067,;RABGGTA,downstream_gene_variant,,ENST00000559551,;RABGGTA,downstream_gene_variant,,ENST00000560998,;RABGGTA,downstream_gene_variant,,ENST00000559974,;RABGGTA,downstream_gene_variant,,ENST00000558376,;RABGGTA,downstream_gene_variant,,ENST00000558649,;RABGGTA,downstream_gene_variant,,ENST00000561055,;RABGGTA,downstream_gene_variant,,ENST00000560243,;	uc001wod.2	c.444T>C	568/2777	3	3			c.444T>C						14	SNP	c.(442-444)CAT>CAC	4	4			central_nervous_system(2)|ovary(1)	3	Broad	transglutaminase 1		L-Glutamine(DB00130)	24730965		0.592	ENSG00000092295	15585	g.chr14:24730965A>G	cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity							278.585402	KEEP	47	55	-1	57	69	47	55	-1	279.431914	57	69	0.427807	1	0	0	0	0	0	0	1	0	--	--		0	G			TGM1_uc010tog.1_Intron	167	GBM-19-2631-TP	p.H148H	A	GGAGGAGCATATGGAAAGGCT	NM_000359	NP_000350	24730965	P22735	TGM1_HUMAN	0		GBM - Glioblastoma multiforme(265;0.0186)	3	568	-	G	G			Silent	148						
TGM2	0	broad.mit.edu	GRCh37	20	36789862	36789862	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5220-01	TCGA-28-5220-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361475.2:c.150C>T	p.Tyr50=	p.Y50=	ENST00000361475	NM_004613.2	50	taC/taT	0			1			A	Y	uc002xhr.2	protein_coding	YES	CCDS13302.1			150/2064									large_intestine(1)|lung(1)|ovary(1)	3	c.(148-150)TAC>TAT			Gene3D:2.60.40.10,Pfam_domain:PF00868,PIRSF_domain:PIRSF000459,hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF6,Superfamily_domains:SSF81296	transglutaminase 2 isoform a	L-Glutamine(DB00130)			ENSP00000355330		13-Feb	6.59E-05		0.000173		0.000153	7.53E-05			rs372553139,COSM3405063	13-Feb	.		ENST00000361475	Transcript			apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	ENSG00000198959	g.chr20:36789862G>A	11778			LOW								--	--	1																																		TGM2_uc010zvx.1_Silent_p.Y50Y|TGM2_uc010zvy.1_Intron|TGM2_uc002xhs.1_Silent_p.Y50Y|TGM2_uc002xht.2_Silent_p.Y50Y|TGM2_uc002xhu.3_Silent_p.Y50Y	0,1	1			p.Y50Y	NM_004613	NP_004604			0,1	TGM2_HUMAN	TGM2	HGNC	P21980	TGM2_HUMAN			Q6DKH2_HUMAN,A2A2A0_HUMAN,A2A299_HUMAN		2	250	-		Myeloproliferative disorder(115;0.00878)	UPI0000136CCB	50					SNV	TGM2,synonymous_variant,p.=,ENST00000361475,NM_004613.2,NM_198951.1;TGM2,synonymous_variant,p.=,ENST00000536701,;TGM2,synonymous_variant,p.=,ENST00000373403,;TGM2,synonymous_variant,p.=,ENST00000453095,;TGM2,intron_variant,,ENST00000536724,;TGM2,non_coding_transcript_exon_variant,,ENST00000474777,;TGM2,non_coding_transcript_exon_variant,,ENST00000468262,;	uc002xhr.2	c.150C>T	324/3996	2	2			c.150C>T						20	SNP	c.(148-150)TAC>TAT	39	39			large_intestine(1)|lung(1)|ovary(1)	3	Broad	transglutaminase 2 isoform a		L-Glutamine(DB00130)	36789862		0.557	ENSG00000198959	15586	g.chr20:36789862G>A	apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity							131.94765	KEEP	27	28	-1	25	44	27	28	-1	132.394034	25	44	0.432432	1	0	0	0	0	0	0	1	0	--	--		0	A			TGM2_uc010zvx.1_Silent_p.Y50Y|TGM2_uc010zvy.1_Intron|TGM2_uc002xhs.1_Silent_p.Y50Y|TGM2_uc002xht.2_Silent_p.Y50Y|TGM2_uc002xhu.3_Silent_p.Y50Y	226	GBM-28-5220-TP	p.Y50Y	G	CACTGGCCTCGTAGTTGCGGC	NM_004613	NP_004604	36789862	P21980	TGM2_HUMAN	0			2	250	-	A	A		Myeloproliferative disorder(115;0.00878)	Silent	50						
TGM2	0	broad.mit.edu	GRCh37	20	36760804	36760804	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-32-5222-01	TCGA-32-5222-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361475.2:c.1714A>T	p.Ile572Phe	p.I572F	ENST00000361475	NM_004613.2	572	Atc/Ttc	0			1			A	I/F	uc002xhr.2	protein_coding	YES	CCDS13302.1			1714/2064									large_intestine(1)|lung(1)|ovary(1)	3	c.(1714-1716)ATC>TTC			Gene3D:2.60.40.10,PIRSF_domain:PIRSF000459,hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF6,Superfamily_domains:SSF49309	transglutaminase 2 isoform a	L-Glutamine(DB00130)			ENSP00000355330		13-Nov									COSM3405062	13-Nov	.		ENST00000361475	Transcript			apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	ENSG00000198959	g.chr20:36760804T>A	11778			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TGM2_HUMAN&rb=473&re=573&var=I572F	getma.org/pdb.php?prot=TGM2_HUMAN&from=473&to=573&var=I572F	getma.org/?cm=var&var=hg19,20,36760804,T,A&fts=all	I572F	--	--	1																																		TGM2_uc002xhq.2_Missense_Mutation_p.I173F|TGM2_uc010zvx.1_Missense_Mutation_p.I491F|TGM2_uc010zvy.1_Missense_Mutation_p.I512F|TGM2_uc002xhs.1_Missense_Mutation_p.I548F	1	1		benign(0.001)	p.I572F	NM_004613	NP_004604		deleterious(0)	1	TGM2_HUMAN	TGM2	HGNC	P21980	TGM2_HUMAN			Q6DKH2_HUMAN,A2A2A0_HUMAN,A2A299_HUMAN		11	1814	-		Myeloproliferative disorder(115;0.00878)	UPI0000136CCB	572					SNV	TGM2,missense_variant,p.Ile572Phe,ENST00000361475,NM_004613.2,NM_198951.1;TGM2,missense_variant,p.Ile491Phe,ENST00000536701,;TGM2,missense_variant,p.Ile512Phe,ENST00000536724,;TGM2,non_coding_transcript_exon_variant,,ENST00000469269,;	uc002xhr.2	c.1714A>T	1888/3996	1	1			c.1714A>T						20	SNP	c.(1714-1716)ATC>TTC	50	50			large_intestine(1)|lung(1)|ovary(1)	3	Broad	transglutaminase 2 isoform a		L-Glutamine(DB00130)	36760804		0.567	ENSG00000198959	15586	g.chr20:36760804T>A	apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity							-158.157984	KEEP	2	7	-1	358	336	2	7	-1	13.705329	358	336	0.012638	1	0	0	0	0	1	0	0	0	--	--		0	A			TGM2_uc002xhq.2_Missense_Mutation_p.I173F|TGM2_uc010zvx.1_Missense_Mutation_p.I491F|TGM2_uc010zvy.1_Missense_Mutation_p.I512F|TGM2_uc002xhs.1_Missense_Mutation_p.I548F	249	GBM-32-5222-TP	p.I572F	T	TAGCTGTTGATAACTGGCTCC	NM_004613	NP_004604	36760804	P21980	TGM2_HUMAN	0			11	1814	-	A	A		Myeloproliferative disorder(115;0.00878)	Missense_Mutation	572						
TGM3	7053	broad.mit.edu	GRCh37	20	2298103	2298103	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs147913958		TCGA-06-2563-01	TCGA-06-2563-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381458.5:c.955C>A	p.Pro319Thr	p.P319T	ENST00000381458	NM_003245.3	319	Ccc/Acc	0			1			A	P/T	uc002wfx.3	protein_coding	YES	CCDS33435.1			955/2082									large_intestine(4)|ovary(3)|breast(1)|skin(1)	9	c.(955-957)CCC>ACC			hmmpanther:PTHR11590:SF36,hmmpanther:PTHR11590,Pfam_domain:PF01841,Gene3D:1ex0A02,PIRSF_domain:PIRSF000459,SMART_domains:SM00460,Superfamily_domains:SSF54001	transglutaminase 3 precursor	L-Glutamine(DB00130)			ENSP00000370867		13-Jul	8.24E-06					1.50E-05			rs778533516,COSM2152884	13-Jul	.		ENST00000381458	Transcript			cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	ENSG00000125780	g.chr20:2298103C>A	11779			MODERATE		0.645	neutral	getma.org/?cm=msa&ty=f&p=TGM3_HUMAN&rb=240&re=355&var=P319T	getma.org/pdb.php?prot=TGM3_HUMAN&from=240&to=355&var=P319T	getma.org/?cm=var&var=hg19,20,2298103,C,A&fts=all	P319T	--	--	1																																			0,1	1		probably_damaging(0.988)	p.P319T	NM_003245	NP_003236		tolerated(1)	0,1	TGM3_HUMAN	TGM3	HGNC	Q08188	TGM3_HUMAN					7	1052	+			UPI0000136CCC	319					SNV	TGM3,missense_variant,p.Pro319Thr,ENST00000381458,NM_003245.3;TGM3,non_coding_transcript_exon_variant,,ENST00000463090,;	uc002wfx.3	c.955C>A	1018/2642	1	1			c.955C>A						20	SNP	c.(955-957)CCC>ACC	63	63			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9	Broad	transglutaminase 3 precursor		L-Glutamine(DB00130)	2298103		0.507	ENSG00000125780	15587	g.chr20:2298103C>A	cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity							258.429158	KEEP	59	62	0.512396694	161	155	59	62	0.512396694	276.190559	161	155	0.271768	1	0	0	0	0	1	0	0	0	--	--		0	A				86	GBM-06-2563-TP	p.P319T	C	CATGGGAAACCCCCTGGACAA	NM_003245	NP_003236	2298103	Q08188	TGM3_HUMAN	0			7	1052	+	A	A			Missense_Mutation	319						
TGM3	0	broad.mit.edu	GRCh37	20	2320632	2320632	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2624-01	TCGA-19-2624-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381458.5:c.1933G>A	p.Asp645Asn	p.D645N	ENST00000381458	NM_003245.3	645	Gac/Aac	0			1			A	D/N	uc002wfx.3	protein_coding	YES	CCDS33435.1			1933/2082									large_intestine(4)|ovary(3)|breast(1)|skin(1)	9	c.(1933-1935)GAC>AAC			hmmpanther:PTHR11590:SF36,hmmpanther:PTHR11590,Gene3D:2.60.40.10,Pfam_domain:PF00927,PIRSF_domain:PIRSF000459,Superfamily_domains:SSF49309	transglutaminase 3 precursor	L-Glutamine(DB00130)			ENSP00000370867		13-Dec									COSM3404980	13-Dec	.		ENST00000381458	Transcript			cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	ENSG00000125780	g.chr20:2320632G>A	11779			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=TGM3_HUMAN&rb=595&re=693&var=D645N	getma.org/pdb.php?prot=TGM3_HUMAN&from=595&to=693&var=D645N	getma.org/?cm=var&var=hg19,20,2320632,G,A&fts=all	D645N	--	--	1																																			1	1		benign(0.069)	p.D645N	NM_003245	NP_003236		tolerated(0.58)	1	TGM3_HUMAN	TGM3	HGNC	Q08188	TGM3_HUMAN					12	2030	+			UPI0000136CCC	645					SNV	TGM3,missense_variant,p.Asp645Asn,ENST00000381458,NM_003245.3;	uc002wfx.3	c.1933G>A	1996/2642	1	1			c.1933G>A						20	SNP	c.(1933-1935)GAC>AAC	61	61			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9	Broad	transglutaminase 3 precursor		L-Glutamine(DB00130)	2320632		0.642	ENSG00000125780	15587	g.chr20:2320632G>A	cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity							22.42331	KEEP	1	7	-1	7	2	1	7	-1	22.477689	7	2	0.4375	1	0	0	0	0	1	0	0	0	--	--		0	A				164	GBM-19-2624-TP	p.D645N	G	CCTGAAGATCGAGTGAGTCCT	NM_003245	NP_003236	2320632	Q08188	TGM3_HUMAN	0			12	2030	+	A	A			Missense_Mutation	645						
TGM3	0	broad.mit.edu	GRCh37	20	2312692	2312692	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01	TCGA-76-4928-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381458.5:c.1378C>T	p.Leu460Phe	p.L460F	ENST00000381458	NM_003245.3	460	Ctt/Ttt	0			1			T	L/F	uc002wfx.3	protein_coding	YES	CCDS33435.1			1378/2082									large_intestine(4)|ovary(3)|breast(1)|skin(1)	9	c.(1378-1380)CTT>TTT			hmmpanther:PTHR11590:SF36,hmmpanther:PTHR11590,Gene3D:1ex0A02,PIRSF_domain:PIRSF000459	transglutaminase 3 precursor	L-Glutamine(DB00130)			ENSP00000370867		13-Oct									COSM3404979	13-Oct	.		ENST00000381458	Transcript			cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	ENSG00000125780	g.chr20:2312692C>T	11779			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=TGM3_HUMAN&rb=356&re=482&var=L460F	getma.org/pdb.php?prot=TGM3_HUMAN&from=356&to=482&var=L460F	getma.org/?cm=var&var=hg19,20,2312692,C,T&fts=all	L460F	--	--	1																																			1	1		possibly_damaging(0.726)	p.L460F	NM_003245	NP_003236		deleterious(0)	1	TGM3_HUMAN	TGM3	HGNC	Q08188	TGM3_HUMAN					10	1475	+			UPI0000136CCC	460					SNV	TGM3,missense_variant,p.Leu460Phe,ENST00000381458,NM_003245.3;	uc002wfx.3	c.1378C>T	1441/2642	2	2			c.1378C>T						20	SNP	c.(1378-1380)CTT>TTT	46	46			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9	Broad	transglutaminase 3 precursor		L-Glutamine(DB00130)	2312692		0.522	ENSG00000125780	15587	g.chr20:2312692C>T	cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity							107.754598	KEEP	21	23	-1	59	95	21	23	-1	118.739974	59	95	0.238636	1	0	0	0	0	1	0	0	0	--	--		0	T				268	GBM-76-4928-TP	p.L460F	C	TTTGGGGAAACTTAAACCCAA	NM_003245	NP_003236	2312692	Q08188	TGM3_HUMAN	0			10	1475	+	T	T			Missense_Mutation	460						
TGM3	0	broad.mit.edu	GRCh37	20	2298127	2298127	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6285-01	TCGA-76-6285-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381458.5:c.979G>A	p.Val327Ile	p.V327I	ENST00000381458	NM_003245.3	327	Gta/Ata	0	A:0		1			A	V/I	uc002wfx.3	protein_coding	YES	CCDS33435.1			979/2082									large_intestine(4)|ovary(3)|breast(1)|skin(1)	9	c.(979-981)GTA>ATA			hmmpanther:PTHR11590:SF36,hmmpanther:PTHR11590,Pfam_domain:PF01841,Gene3D:1ex0A02,PIRSF_domain:PIRSF000459,SMART_domains:SM00460,Superfamily_domains:SSF54001	transglutaminase 3 precursor	L-Glutamine(DB00130)		A:0.0002	ENSP00000370867		13-Jul	0.000198	9.61E-05	8.64E-05			4.50E-05	0.0022	0.00103	rs370121854,COSM3378997	13-Jul	common_variant		ENST00000381458	Transcript			cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	ENSG00000125780	g.chr20:2298127G>A	11779			MODERATE		0.305	neutral	getma.org/?cm=msa&ty=f&p=TGM3_HUMAN&rb=240&re=355&var=V327I	getma.org/pdb.php?prot=TGM3_HUMAN&from=240&to=355&var=V327I	getma.org/?cm=var&var=hg19,20,2298127,G,A&fts=all	V327I	--	--	1																																			0,1	1		benign(0.032)	p.V327I	NM_003245	NP_003236		tolerated(0.38)	0,1	TGM3_HUMAN	TGM3	HGNC	Q08188	TGM3_HUMAN					7	1076	+			UPI0000136CCC	327					SNV	TGM3,missense_variant,p.Val327Ile,ENST00000381458,NM_003245.3;TGM3,non_coding_transcript_exon_variant,,ENST00000463090,;	uc002wfx.3	c.979G>A	1042/2642	2	2			c.979G>A						20	SNP	c.(979-981)GTA>ATA	29	29			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9	Broad	transglutaminase 3 precursor		L-Glutamine(DB00130)	2298127		0.507	ENSG00000125780	15587	g.chr20:2298127G>A	cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity							220.106521	KEEP	32	53	-1	45	53	32	53	-1	220.643716	45	53	0.438272	1	0	0	0	0	1	0	0	0	--	--		0	A				280	GBM-76-6285-TP	p.V327I	G	TAGTGATAGCGTATGGTAAGT	NM_003245	NP_003236	2298127	Q08188	TGM3_HUMAN	0			7	1076	+	A	A			Missense_Mutation	327						
TGM5	9333	broad.mit.edu	GRCh37	15	43552356	43552356	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000220420.5:c.330G>A	p.Ala110=	p.A110=	ENST00000220420	NM_201631.3	110	gcG/gcA	0			1			T	A	uc001zrd.1	protein_coding	YES	CCDS32212.1			330/2163									central_nervous_system(1)	1	c.(328-330)GCG>GCA			Superfamily_domains:SSF81296,PIRSF_domain:PIRSF000459,Gene3D:2.60.40.10,Pfam_domain:PF00868,hmmpanther:PTHR11590:SF38,hmmpanther:PTHR11590	transglutaminase 5 isoform 1	L-Glutamine(DB00130)			ENSP00000220420		13-Mar									COSM554991	13-Mar	.		ENST00000220420	Transcript	1		epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	ENSG00000104055	g.chr15:43552356C>T	11781			LOW								--	--	1																																		TGM5_uc001zre.1_Intron	1	1			p.A110A	NM_201631	NP_963925			1	TGM5_HUMAN	TGM5	HGNC	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)			3	338	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	UPI0000136CCF	110					SNV	TGM5,synonymous_variant,p.=,ENST00000220420,NM_201631.3;TGM5,intron_variant,,ENST00000349114,NM_004245.3;	uc001zrd.1	c.330G>A	338/2767	2	2			c.330G>A						15	SNP	c.(328-330)GCG>GCA	36	36			central_nervous_system(1)	1	Broad	transglutaminase 5 isoform 1		L-Glutamine(DB00130)	43552356		0.617	ENSG00000104055	15589	g.chr15:43552356C>T	epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity							83.040285	KEEP	18	23	-1	40	48	18	23	-1	86.837862	40	48	0.292929	1	0	0	0	0	0	0	1	0	--	--		0	T			TGM5_uc001zre.1_Intron	5	GBM-02-2470-TP	p.A110A	C	GACCCACGGCCGCCGTGGGAG	NM_201631	NP_963925	43552356	O43548	TGM5_HUMAN	0		GBM - Glioblastoma multiforme(94;4e-07)	3	338	-	T	T		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	Silent	110						
TGM5	9333	broad.mit.edu	GRCh37	15	43552685	43552685	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01	TCGA-06-0173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000220420.5:c.103C>T	p.Arg35Trp	p.R35W	ENST00000220420	NM_201631.3	35	Cgg/Tgg	0	A:0		1			A	R/W	uc001zrd.1	protein_coding	YES	CCDS32212.1			103/2163									central_nervous_system(1)	1	c.(103-105)CGG>TGG			Superfamily_domains:SSF81296,PIRSF_domain:PIRSF000459,Gene3D:2.60.40.10,Pfam_domain:PF00868,hmmpanther:PTHR11590:SF38,hmmpanther:PTHR11590	transglutaminase 5 isoform 1	L-Glutamine(DB00130)		A:0.0001	ENSP00000220420		13-Feb	2.47E-05		0.000173			1.50E-05			rs370983556,COSM2150410	13-Feb	.		ENST00000220420	Transcript	1		epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	ENSG00000104055	g.chr15:43552685G>A	11781			MODERATE		3.185	medium	getma.org/?cm=msa&ty=f&p=TGM5_HUMAN&rb=5&re=124&var=R35W	getma.org/pdb.php?prot=TGM5_HUMAN&from=5&to=124&var=R35W	getma.org/?cm=var&var=hg19,15,43552685,G,A&fts=all	R35W	--	--	1																																		TGM5_uc001zre.1_Missense_Mutation_p.R35W	0,1	1		probably_damaging(1)	p.R35W	NM_201631	NP_963925		deleterious(0)	0,1	TGM5_HUMAN	TGM5	HGNC	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)			2	111	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	UPI0000136CCF	35					SNV	TGM5,missense_variant,p.Arg35Trp,ENST00000220420,NM_201631.3;TGM5,missense_variant,p.Arg35Trp,ENST00000349114,NM_004245.3;	uc001zrd.1	c.103C>T	111/2767	1	1			c.103C>T						15	SNP	c.(103-105)CGG>TGG	61	61			central_nervous_system(1)	1	Broad	transglutaminase 5 isoform 1		L-Glutamine(DB00130)	43552685		0.572	ENSG00000104055	15589	g.chr15:43552685G>A	epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity							223.838963	KEEP	44	47	-1	79	63	44	47	-1	225.805469	79	63	0.390374	1	0	0	0	0	1	0	0	0	--	--		0	A			TGM5_uc001zre.1_Missense_Mutation_p.R35W	36	GBM-06-0173-TP	p.R35W	G	GCCTGGCCCCGGCGAACAAGC	NM_201631	NP_963925	43552685	O43548	TGM5_HUMAN	0		GBM - Glioblastoma multiforme(94;4e-07)	2	111	-	A	A		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	Missense_Mutation	35						
TGM5	9333		GRCh37	15	43525396	43525396	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000220420.5:c.2156C>T	p.Ala719Val	p.A719V	ENST00000220420	NM_201631.3	719	gCa/gTa	0																																																																																																																																																																																																																																												
TGM7	116179		GRCh37	15	43571424	43571424	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000452443.2:c.1730C>T	p.Thr577Met	p.T577M	ENST00000452443	NM_052955.2	577	aCg/aTg	0																																																																																																																																																																																																																																												
TH	0	broad.mit.edu	GRCh37	11	2186970	2186970	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-16-0846-01	TCGA-16-0846-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381178.1:c.1221C>T	p.Phe407=	p.F407=	ENST00000381178	NM_199292.2	407	ttC/ttT	0			1			A	F	uc001lvq.2	protein_coding	YES	CCDS7731.1			1221/1587										0	c.(1219-1221)TTC>TTT			Gene3D:1.10.800.10,Pfam_domain:PF00351,PIRSF_domain:PIRSF000336,PROSITE_profiles:PS51410,hmmpanther:PTHR11473,hmmpanther:PTHR11473:SF18,Superfamily_domains:SSF56534,TIGRFAM_domain:TIGR01269	tyrosine hydroxylase isoform a	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)			ENSP00000370571		14-Dec	0.000107		8.84E-05			0.00011		0.000313	rs769329337,COSM3397615	14-Dec	.		ENST00000381178	Transcript	1		dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	ENSG00000180176	g.chr11:2186970G>A	11782			LOW								--	--	1																																		TH_uc001lvp.2_Silent_p.F403F|TH_uc001lvr.2_Silent_p.F376F|TH_uc010qxj.1_Silent_p.F380F|TH_uc001lvs.2_Silent_p.F282F|TH_uc001lvt.2_Silent_p.F286F|TH_uc009ydh.1_RNA	0,1	1			p.F407F	NM_199292	NP_954986			0,1	TY3H_HUMAN	TH	HGNC	P07101	TY3H_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	Q9UQ57_HUMAN,Q9NP14_HUMAN,Q8IZE1_HUMAN,Q6XS77_HUMAN,P78428_HUMAN		12	1240	-		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	UPI00001412DD	407					SNV	TH,synonymous_variant,p.=,ENST00000381178,NM_199292.2;TH,synonymous_variant,p.=,ENST00000381175,NM_199293.2;TH,synonymous_variant,p.=,ENST00000352909,NM_000360.3;TH,synonymous_variant,p.=,ENST00000333684,;TH,synonymous_variant,p.=,ENST00000412076,;INS-IGF2,upstream_gene_variant,,ENST00000397270,NM_001042376.2;INS,upstream_gene_variant,,ENST00000397262,NM_001185098.1;INS,upstream_gene_variant,,ENST00000381330,;INS,upstream_gene_variant,,ENST00000250971,NM_001185097.1,NM_000207.2;INS,upstream_gene_variant,,ENST00000421783,;INS,upstream_gene_variant,,ENST00000512523,;TH,3_prime_UTR_variant,,ENST00000324155,;TH,3_prime_UTR_variant,,ENST00000416223,;TH,non_coding_transcript_exon_variant,,ENST00000479437,;INS-IGF2,upstream_gene_variant,,ENST00000356578,;TH,downstream_gene_variant,,ENST00000381168,;TH,downstream_gene_variant,,ENST00000469226,;TH,downstream_gene_variant,,ENST00000461172,;	uc001lvq.2	c.1221C>T	1240/1910	2	2			c.1221C>T						11	SNP	c.(1219-1221)TTC>TTT	43	43				0	Broad	tyrosine hydroxylase isoform a		L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	2186970		0.667	ENSG00000180176	15594	g.chr11:2186970G>A	dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity							6.481008	KEEP	1	4	-1	12	16	1	4	-1	9.922689	12	16	0.142857	1	0	0	0	0	0	0	1	0	--	--		0	A			TH_uc001lvp.2_Silent_p.F403F|TH_uc001lvr.2_Silent_p.F376F|TH_uc010qxj.1_Silent_p.F380F|TH_uc001lvs.2_Silent_p.F282F|TH_uc001lvt.2_Silent_p.F286F|TH_uc009ydh.1_RNA	155	GBM-16-0846-TP	p.F407F	G	TACACAGCCCGAACTCCACCG	NM_199292	NP_954986	2186970	P07101	TY3H_HUMAN	0	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	12	1240	-	A	A		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Silent	407						
THADA	63892	broad.mit.edu	GRCh37	2	43804328	43804328	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0128-01	TCGA-06-0128-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000405006.4:c.870T>A	p.Phe290Leu	p.F290L	ENST00000405006	NM_001083953.1	290	ttT/ttA	0			1			T	F/L	uc002rsw.3	protein_coding	YES	CCDS46268.1			870/5862									ovary(2)|skin(1)	3	c.(868-870)TTT>TTA			hmmpanther:PTHR14387:SF0,hmmpanther:PTHR14387	thyroid adenoma associated				ENSP00000385995		Oct-38									COSM3407866	Oct-38	.		ENST00000405006	Transcript					binding	ENSG00000115970	g.chr2:43804328A>T	19217			MODERATE		-0.18	neutral	getma.org/?cm=msa&ty=f&p=THADA_HUMAN&rb=201&re=400&var=F290L	NA	getma.org/?cm=var&var=hg19,2,43804328,A,T&fts=all	F290L	--	--	1																																OREG0014580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	THADA_uc002rsx.3_Missense_Mutation_p.F290L|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_5'Flank|THADA_uc002rsz.2_5'UTR|THADA_uc002rta.2_5'UTR|THADA_uc002rtb.1_Missense_Mutation_p.F290L|THADA_uc002rtc.3_Missense_Mutation_p.F290L|THADA_uc002rtd.2_Missense_Mutation_p.F290L	1	1		benign(0.004)	p.F290L	NM_001083953	NP_001077422		tolerated(0.64)	1	THADA_HUMAN	THADA	HGNC	Q6YHU6	THADA_HUMAN			Q6YHU4_HUMAN		10	1222	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	UPI00001C0473	290					SNV	THADA,missense_variant,p.Phe290Leu,ENST00000403856,;THADA,missense_variant,p.Phe290Leu,ENST00000405006,NM_001083953.1;THADA,missense_variant,p.Phe290Leu,ENST00000405975,NM_022065.4;THADA,missense_variant,p.Phe290Leu,ENST00000404790,NM_001271644.1;THADA,missense_variant,p.Phe290Leu,ENST00000402360,NM_001271643.1;THADA,5_prime_UTR_variant,,ENST00000415080,;THADA,upstream_gene_variant,,ENST00000330266,;THADA,missense_variant,p.Tyr288Asn,ENST00000398653,;THADA,missense_variant,p.Tyr288Asn,ENST00000408045,;THADA,missense_variant,p.Phe290Leu,ENST00000474159,;THADA,upstream_gene_variant,,ENST00000402796,;	uc002rsw.3	c.870T>A	1222/6310	2	2			c.870T>A						2	SNP	c.(868-870)TTT>TTA	46	46			ovary(2)|skin(1)	3	Broad	thyroid adenoma associated			43804328		0.478	ENSG00000115970	15596	g.chr2:43804328A>T			binding							5.815253	KEEP	4	0	-1	5	5	4	0	-1	6.50118	5	5	0.25	1	0	0	0	0	1	0	0	0	--	--		0	T	OREG0014580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	THADA_uc002rsx.3_Missense_Mutation_p.F290L|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_5'Flank|THADA_uc002rsz.2_5'UTR|THADA_uc002rta.2_5'UTR|THADA_uc002rtb.1_Missense_Mutation_p.F290L|THADA_uc002rtc.3_Missense_Mutation_p.F290L|THADA_uc002rtd.2_Missense_Mutation_p.F290L	14	GBM-06-0128-TP	p.F290L	A	AGCTGCTCATAAACCACTCGG	NM_001083953	NP_001077422	43804328	Q6YHU6	THADA_HUMAN	0			10	1222	-	T	T		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	Missense_Mutation	290						
THADA	63892	broad.mit.edu	GRCh37	2	43802136	43802136	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2558-01	TCGA-06-2558-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000405006.4:c.1068G>A	p.Leu356=	p.L356=	ENST00000405006	NM_001083953.1	356	ctG/ctA	0			1			T	L	uc002rsw.3	protein_coding	YES	CCDS46268.1			1068/5862									ovary(2)|skin(1)	3	c.(1066-1068)CTG>CTA			hmmpanther:PTHR14387:SF0,hmmpanther:PTHR14387,Superfamily_domains:SSF48371	thyroid adenoma associated				ENSP00000385995		Nov-38									COSM3407865	Nov-38	.		ENST00000405006	Transcript					binding	ENSG00000115970	g.chr2:43802136C>T	19217			LOW								--	--	1																																		THADA_uc002rsx.3_Silent_p.L356L|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Silent_p.L66L|THADA_uc002rta.2_Silent_p.L66L|THADA_uc002rtb.1_Silent_p.L356L|THADA_uc002rtc.3_Silent_p.L356L|THADA_uc002rtd.2_Silent_p.L356L	1	1			p.L356L	NM_001083953	NP_001077422			1	THADA_HUMAN	THADA	HGNC	Q6YHU6	THADA_HUMAN			Q6YHU4_HUMAN		11	1420	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	UPI00001C0473	356					SNV	THADA,synonymous_variant,p.=,ENST00000403856,;THADA,synonymous_variant,p.=,ENST00000405006,NM_001083953.1;THADA,synonymous_variant,p.=,ENST00000405975,NM_022065.4;THADA,synonymous_variant,p.=,ENST00000415080,;THADA,synonymous_variant,p.=,ENST00000330266,;THADA,synonymous_variant,p.=,ENST00000404790,NM_001271644.1;THADA,synonymous_variant,p.=,ENST00000402360,NM_001271643.1;THADA,upstream_gene_variant,,ENST00000407351,;THADA,3_prime_UTR_variant,,ENST00000398653,;THADA,3_prime_UTR_variant,,ENST00000408045,;THADA,intron_variant,,ENST00000474159,;THADA,upstream_gene_variant,,ENST00000402796,;	uc002rsw.3	c.1068G>A	1420/6310	1	1			c.1068G>A						2	SNP	c.(1066-1068)CTG>CTA	15	15			ovary(2)|skin(1)	3	Broad	thyroid adenoma associated			43802136		0.373	ENSG00000115970	15596	g.chr2:43802136C>T			binding							175.842999	KEEP	30	45	-1	65	79	30	45	-1	179.71902	65	79	0.348958	1	0	0	0	0	0	0	1	0	--	--		0	T			THADA_uc002rsx.3_Silent_p.L356L|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Silent_p.L66L|THADA_uc002rta.2_Silent_p.L66L|THADA_uc002rtb.1_Silent_p.L356L|THADA_uc002rtc.3_Silent_p.L356L|THADA_uc002rtd.2_Silent_p.L356L	82	GBM-06-2558-TP	p.L356L	C	AGATTCTAGACAGAAACATTT	NM_001083953	NP_001077422	43802136	Q6YHU6	THADA_HUMAN	0			11	1420	-	T	T		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	Silent	356						
THADA	0	broad.mit.edu	GRCh37	2	43768396	43768396	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-12-5301-01	TCGA-12-5301-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000405006.4:c.3166A>C	p.Ser1056Arg	p.S1056R	ENST00000405006	NM_001083953.1	1056	Agt/Cgt	0			1			G	S/R	uc002rsw.3	protein_coding	YES	CCDS46268.1			3166/5862									ovary(2)|skin(1)	3	c.(3166-3168)AGT>CGT			hmmpanther:PTHR14387:SF0,hmmpanther:PTHR14387,Pfam_domain:PF10350,Superfamily_domains:SSF48371	thyroid adenoma associated				ENSP00000385995		21/38									COSM3407864	21/38	.		ENST00000405006	Transcript					binding	ENSG00000115970	g.chr2:43768396T>G	19217			MODERATE		2.755	medium	getma.org/?cm=msa&ty=f&p=THADA_HUMAN&rb=945&re=1248&var=S1056R	NA	getma.org/?cm=var&var=hg19,2,43768396,T,G&fts=all	S1056R	--	--	1																																		THADA_uc010far.2_Missense_Mutation_p.S325R|THADA_uc002rsx.3_Missense_Mutation_p.S1056R|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Missense_Mutation_p.S765R|THADA_uc010fat.1_Missense_Mutation_p.S203R|THADA_uc002rta.2_Missense_Mutation_p.S766R	1	1		probably_damaging(0.997)	p.S1056R	NM_001083953	NP_001077422		deleterious(0)	1	THADA_HUMAN	THADA	HGNC	Q6YHU6	THADA_HUMAN			Q6YHU4_HUMAN		21	3518	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	UPI00001C0473	1056					SNV	THADA,missense_variant,p.Ser1056Arg,ENST00000405006,NM_001083953.1;THADA,missense_variant,p.Ser1056Arg,ENST00000405975,NM_022065.4;THADA,missense_variant,p.Ser766Arg,ENST00000415080,;THADA,missense_variant,p.Ser370Arg,ENST00000407351,;THADA,missense_variant,p.Ser766Arg,ENST00000330266,;THADA,non_coding_transcript_exon_variant,,ENST00000462185,;THADA,3_prime_UTR_variant,,ENST00000398653,;THADA,3_prime_UTR_variant,,ENST00000408045,;THADA,3_prime_UTR_variant,,ENST00000402796,;	uc002rsw.3	c.3166A>C	3518/6310	3	3			c.3166A>C						2	SNP	c.(3166-3168)AGT>CGT	64	64			ovary(2)|skin(1)	3	Broad	thyroid adenoma associated			43768396		0.418	ENSG00000115970	15596	g.chr2:43768396T>G			binding							501.423168	KEEP	85	100	-1	124	145	85	100	-1	504.182821	124	145	0.411028	1	0	0	0	0	1	0	0	0	--	--		0	G			THADA_uc010far.2_Missense_Mutation_p.S325R|THADA_uc002rsx.3_Missense_Mutation_p.S1056R|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Missense_Mutation_p.S765R|THADA_uc010fat.1_Missense_Mutation_p.S203R|THADA_uc002rta.2_Missense_Mutation_p.S766R	131	GBM-12-5301-TP	p.S1056R	T	TCCTTCATACTTCTCCAACAA	NM_001083953	NP_001077422	43768396	Q6YHU6	THADA_HUMAN	0			21	3518	-	G	G		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	Missense_Mutation	1056						
THADA	0	broad.mit.edu	GRCh37	2	43458375	43458375	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1991-01	TCGA-32-1991-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000405006.4:c.5574C>T	p.Ser1858=	p.S1858=	ENST00000405006	NM_001083953.1	1858	tcC/tcT	0			1			A	S	uc002rsw.3	protein_coding	YES	CCDS46268.1			5574/5862									ovary(2)|skin(1)	3	c.(5572-5574)TCC>TCT			hmmpanther:PTHR14387:SF0,hmmpanther:PTHR14387	thyroid adenoma associated				ENSP00000385995		38/38	1.65E-05							0.000127	rs764377129,COSM3407862	38/38	.		ENST00000405006	Transcript					binding	ENSG00000115970	g.chr2:43458375G>A	19217			LOW								--	--	1																																		THADA_uc010far.2_Silent_p.S1053S|THADA_uc002rsx.3_Silent_p.S1858S|THADA_uc002rsy.3_RNA	0,1	1			p.S1858S	NM_001083953	NP_001077422			0,1	THADA_HUMAN	THADA	HGNC	Q6YHU6	THADA_HUMAN			Q6YHU4_HUMAN		38	5926	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	UPI00001C0473	1858					SNV	THADA,synonymous_variant,p.=,ENST00000405006,NM_001083953.1;THADA,synonymous_variant,p.=,ENST00000405975,NM_022065.4;THADA,synonymous_variant,p.=,ENST00000415080,;THADA,synonymous_variant,p.=,ENST00000407351,;THADA,intron_variant,,ENST00000330266,;ZFP36L2,upstream_gene_variant,,ENST00000282388,NM_006887.4;AC010883.5,intron_variant,,ENST00000423354,;THADA,non_coding_transcript_exon_variant,,ENST00000467668,;THADA,3_prime_UTR_variant,,ENST00000398653,;	uc002rsw.3	c.5574C>T	5926/6310	2	2			c.5574C>T						2	SNP	c.(5572-5574)TCC>TCT	32	32			ovary(2)|skin(1)	3	Broad	thyroid adenoma associated			43458375		0.517	ENSG00000115970	15596	g.chr2:43458375G>A			binding							-21.977892	KEEP	4	1	-1	67	69	4	1	-1	6.886935	67	69	0.025862	1	0	0	0	0	0	0	1	0	--	--		0	A			THADA_uc010far.2_Silent_p.S1053S|THADA_uc002rsx.3_Silent_p.S1858S|THADA_uc002rsy.3_RNA	234	GBM-32-1991-TP	p.S1858S	G	GACGCCAGCCGGACTTTGAGA	NM_001083953	NP_001077422	43458375	Q6YHU6	THADA_HUMAN	0			38	5926	-	A	A		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	Silent	1858						
THAP3	90326		GRCh37	1	6692962	6692962	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000054650.4:c.545T>C	p.Leu182Pro	p.L182P	ENST00000054650	NM_001195753.1	182	cTt/cCt	0																																																																																																																																																																																																																																												
THAP9	0	broad.mit.edu	GRCh37	4	83825996	83825996	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-26-6174-01	TCGA-26-6174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302236.5:c.188C>G	p.Ser63Cys	p.S63C	ENST00000302236	NM_024672.4	63	tCc/tGc	0			1			G	S/C	uc003hnt.2	protein_coding	YES	CCDS3598.1			188/2712									ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	5	c.(187-189)TCC>TGC			Pfam_domain:PF05485,PROSITE_profiles:PS50950,hmmpanther:PTHR10725,hmmpanther:PTHR10725:SF6,SMART_domains:SM00692,SMART_domains:SM00980,Superfamily_domains:SSF57716	THAP domain containing 9				ENSP00000305533		5-Feb									COSM3409582	5-Feb	.		ENST00000302236	Transcript					DNA binding|metal ion binding	ENSG00000168152	g.chr4:83825996C>G	23192			MODERATE		2.755	medium	getma.org/?cm=msa&ty=f&p=THAP9_HUMAN&rb=3&re=95&var=S63C	getma.org/pdb.php?prot=THAP9_HUMAN&from=3&to=95&var=S63C	getma.org/?cm=var&var=hg19,4,83825996,C,G&fts=all	S63C	--	--	1																																		THAP9_uc003hns.1_5'UTR|THAP9_uc003hnu.1_RNA|THAP9_uc003hnv.2_5'UTR	1	1		probably_damaging(1)	p.S63C	NM_024672	NP_078948		deleterious(0)	1	THAP9_HUMAN	THAP9	HGNC	Q9H5L6	THAP9_HUMAN					2	307	+		Hepatocellular(203;0.114)	UPI0000367262	63			THAP-type.		SNV	THAP9,missense_variant,p.Ser63Cys,ENST00000302236,NM_024672.4;SEC31A,upstream_gene_variant,,ENST00000355196,;SEC31A,upstream_gene_variant,,ENST00000503210,;SEC31A,upstream_gene_variant,,ENST00000507676,;SEC31A,upstream_gene_variant,,ENST00000506495,;SEC31A,upstream_gene_variant,,ENST00000507051,;THAP9-AS1,upstream_gene_variant,,ENST00000504520,;THAP9-AS1,upstream_gene_variant,,ENST00000504792,;THAP9-AS1,upstream_gene_variant,,ENST00000512932,;THAP9-AS1,upstream_gene_variant,,ENST00000513581,;THAP9-AS1,upstream_gene_variant,,ENST00000503704,;THAP9-AS1,upstream_gene_variant,,ENST00000504718,;THAP9-AS1,upstream_gene_variant,,ENST00000508772,;THAP9-AS1,upstream_gene_variant,,ENST00000509007,;THAP9-AS1,upstream_gene_variant,,ENST00000505028,;THAP9-AS1,upstream_gene_variant,,ENST00000507660,;THAP9-AS1,upstream_gene_variant,,ENST00000504869,;THAP9-AS1,upstream_gene_variant,,ENST00000511271,;THAP9,missense_variant,p.Ser63Cys,ENST00000505901,;THAP9,missense_variant,p.Ser63Cys,ENST00000514244,;THAP9,missense_variant,p.Ser63Cys,ENST00000509353,;THAP9,upstream_gene_variant,,ENST00000506208,;THAP9,downstream_gene_variant,,ENST00000514440,;	uc003hnt.2	c.188C>G	239/3808	3	3			c.188C>G						4	SNP	c.(187-189)TCC>TGC	61	61			ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	5	Broad	THAP domain containing 9			83825996		0.403	ENSG00000168152	15606	g.chr4:83825996C>G			DNA binding|metal ion binding							-11.879485	KEEP	2	3	-1	42	60	2	3	-1	10.257345	42	60	0.040816	1	0	0	0	0	1	0	0	0	--	--		0	G			THAP9_uc003hns.1_5'UTR|THAP9_uc003hnu.1_RNA|THAP9_uc003hnv.2_5'UTR	188	GBM-26-6174-TP	p.S63C	C	ATACTGTGTTCCAAACATTTT	NM_024672	NP_078948	83825996	Q9H5L6	THAP9_HUMAN	0			2	307	+	G	G		Hepatocellular(203;0.114)	Missense_Mutation	63			THAP-type.			
THBS1	7057		GRCh37	15	39874573	39874573	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0240-01	TCGA-06-0240-01																				ENST00000260356.5:c.247C>T	p.Arg83Trp	p.R83W	ENST00000260356	NM_003246.2	83	Cgg/Tgg	0																																																																																																																																																																																																																																												
THBS1	7057		GRCh37	15	39879564	39879564	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000260356.5:c.1137C>T	p.Asp379=	p.D379=	ENST00000260356	NM_003246.2	379	gaC/gaT	0																																																																																																																																																																																																																																												
THBS3	0	broad.mit.edu	GRCh37	1	155170717	155170719	+	inframe_deletion	In_Frame_Del	DEL	CAT	CAT	-			TCGA-27-2527-01	TCGA-27-2527-01	CAT	CAT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368378.3:c.1517_1519delATG	p.Asp506del	p.D506del	ENST00000368378	NM_007112.4	506	gATGct/gct	0			1			-	DA/A	uc001fix.2	protein_coding	YES	CCDS1099.1			1517-1519/2871									breast(3)|ovary(2)	5	c.(1516-1521)GATGCT>GCT			Superfamily_domains:0044556,Gene3D:1ux6A01,Pfam_domain:PF02412,PROSITE_profiles:PS51234,hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF5,Low_complexity_(Seg):seg	thrombospondin 3 precursor				ENSP00000357362		13/23										13/23	.		ENST00000368378	Transcript			cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	ENSG00000169231	g.chr1:155170717_155170719delCAT	11787			MODERATE								--	--	1																																		RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_In_Frame_Del_p.D497del|THBS3_uc001fiz.2_In_Frame_Del_p.D469del|THBS3_uc001fiy.2_In_Frame_Del_p.D35del|THBS3_uc010pfu.1_In_Frame_Del_p.D386del|THBS3_uc010pfv.1_RNA|THBS3_uc001fja.2_RNA		1			p.D506del	NM_007112	NP_009043				TSP3_HUMAN	THBS3	HGNC	P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Q2HIZ1_HUMAN,F5H4Z8_HUMAN,B3KQE1_HUMAN		13	1540_1542	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		UPI000013776E	506			TSP type-3 2.		deletion	THBS3,inframe_deletion,p.Asp506del,ENST00000368378,NM_007112.4,NM_001252607.1;THBS3,inframe_deletion,p.Asp35del,ENST00000541990,;THBS3,inframe_deletion,p.Asp386del,ENST00000457183,NM_001252608.1;THBS3,5_prime_UTR_variant,,ENST00000541576,;RP11-263K19.4,intron_variant,,ENST00000453136,;RP11-263K19.4,intron_variant,,ENST00000430312,;RP11-263K19.4,intron_variant,,ENST00000422665,;RP11-263K19.4,downstream_gene_variant,,ENST00000436772,;RP11-263K19.4,downstream_gene_variant,,ENST00000454348,;RP11-263K19.4,downstream_gene_variant,,ENST00000447623,;THBS3,non_coding_transcript_exon_variant,,ENST00000486260,;THBS3,non_coding_transcript_exon_variant,,ENST00000460050,;THBS3,upstream_gene_variant,,ENST00000465596,;THBS3,inframe_deletion,p.Asp356del,ENST00000428962,;THBS3,non_coding_transcript_exon_variant,,ENST00000496332,;THBS3,upstream_gene_variant,,ENST00000469769,;THBS3,upstream_gene_variant,,ENST00000498500,;	uc001fix.2	c.1517_1519delATG	1538-1540/3145	5	5			c.1517_1519delATG						1	DEL	c.(1516-1521)GATGCT>GCT	6	6			breast(3)|ovary(2)	5	Broad	thrombospondin 3 precursor			155170719		0.542	ENSG00000169231	15610	g.chr1:155170717_155170719delCAT	cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			217			217														0.15	1	1	0	1	0	0	0	0	0	--	--		0	-			RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_In_Frame_Del_p.D497del|THBS3_uc001fiz.2_In_Frame_Del_p.D469del|THBS3_uc001fiy.2_In_Frame_Del_p.D35del|THBS3_uc010pfu.1_In_Frame_Del_p.D386del|THBS3_uc010pfv.1_RNA|THBS3_uc001fja.2_RNA	204	GBM-27-2527-TP	p.D506del	CAT	TCCCCATCAGCATCATCATCACA	NM_007112	NP_009043	155170717	P49746	TSP3_HUMAN	0	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		13	1540_1542	-	-	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		In_Frame_Del	506			TSP type-3 2.			
THBS4	0	broad.mit.edu	GRCh37	5	79378941	79378941	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-0789-01	TCGA-14-0789-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000350881.2:c.2863A>G	p.Asn955Asp	p.N955D	ENST00000350881	NM_003248.4	955	Aat/Gat	0			1			G	N/D	uc003kgh.2	protein_coding	YES	CCDS4049.1			2863/2886										0	c.(2863-2865)AAT>GAT			hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF4	thrombospondin 4 precursor				ENSP00000339730		22/22									COSM3410447	22/22	.		ENST00000350881	Transcript			endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	ENSG00000113296	g.chr5:79378941A>G	11788			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=TSP4_HUMAN&rb=916&re=961&var=N955D	getma.org/pdb.php?prot=TSP4_HUMAN&from=946&to=961&var=N955D	getma.org/?cm=var&var=hg19,5,79378941,A,G&fts=all	N955D	--	--	1																																OREG0016685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	uc003kgi.3_Intron	1	1		benign(0.008)	p.N955D	NM_003248	NP_003239		tolerated_low_confidence(0.18)	1	TSP4_HUMAN	THBS4	HGNC	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	E7ES19_HUMAN		23	3186	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	UPI000013D591	955					SNV	THBS4,missense_variant,p.Asn955Asp,ENST00000350881,NM_003248.4;THBS4,missense_variant,p.Asn864Asp,ENST00000511733,;CTD-2201I18.1,intron_variant,,ENST00000514042,;CTD-2201I18.1,upstream_gene_variant,,ENST00000503007,;THBS4,non_coding_transcript_exon_variant,,ENST00000504720,;THBS4,non_coding_transcript_exon_variant,,ENST00000511888,;	uc003kgh.2	c.2863A>G	3053/3222	3	3			c.2863A>G						5	SNP	c.(2863-2865)AAT>GAT	55	55				0	Broad	thrombospondin 4 precursor			79378941		0.453	ENSG00000113296	15611	g.chr5:79378941A>G	endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity							107.812809	KEEP	21	22	-1	52	79	21	22	-1	115.520738	52	79	0.256944	1	0	0	0	0	1	0	0	0	--	--		0	G	OREG0016685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	uc003kgi.3_Intron	136	GBM-14-0789-TP	p.N955D	A	TCAAACCCAGAATTTCGACCG	NM_003248	NP_003239	79378941	P35443	TSP4_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	23	3186	+	G	G		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	Missense_Mutation	955						
THEG	51298	broad.mit.edu	GRCh37	19	375850	375850	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01	TCGA-02-2485-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342640.4:c.121C>T	p.Arg41Trp	p.R41W	ENST00000342640	NM_016585.4	41	Cgg/Tgg	0		A:0	1	A:0		A	R/W	uc002lol.2	protein_coding	YES	CCDS12025.1			121/1140									ovary(1)	1	c.(121-123)CGG>TGG			hmmpanther:PTHR15901,hmmpanther:PTHR15901:SF13	Theg homolog isoform 1		A:0		ENSP00000340088	A:0	8-Jan	2.47E-05					1.54E-05		0.000131	rs575728371,COSM995611	8-Jan	.		ENST00000342640	Transcript		A:0.0002	cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	ENSG00000105549	g.chr19:375850G>A	13706			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=THEG_HUMAN&rb=1&re=43&var=R41W	NA	getma.org/?cm=var&var=hg19,19,375850,G,A&fts=all	R41W	--	--	1																																		THEG_uc002lom.2_Missense_Mutation_p.R41W	0,1	1		benign(0.016)	p.R41W	NM_016585	NP_057669	A:0.001	deleterious_low_confidence(0.04)	0,1	THEG_HUMAN	THEG	HGNC	Q9P2T0	THEG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)			1	160	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	UPI000006E5C6	41					SNV	THEG,missense_variant,p.Arg41Trp,ENST00000342640,NM_016585.4;THEG,missense_variant,p.Arg41Trp,ENST00000346878,NM_199202.2;THEG,upstream_gene_variant,,ENST00000530711,;THEG,upstream_gene_variant,,ENST00000528213,;	uc002lol.2	c.121C>T	164/1326	1	1			c.121C>T						19	SNP	c.(121-123)CGG>TGG	51	51			ovary(1)	1	Broad	Theg homolog isoform 1			375850		0.672	ENSG00000105549	15612	g.chr19:375850G>A	cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding							151.787632	KEEP	25	35	-1	52	53	25	35	-1	153.005389	52	53	0.4	1	0	0	0	0	1	0	0	0	--	--		0	A			THEG_uc002lom.2_Missense_Mutation_p.R41W	7	GBM-02-2485-TP	p.R41W	G	TCTGTGACCCGCCGGCTCTCG	NM_016585	NP_057669	375850	Q9P2T0	THEG_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	160	-	A	A		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	Missense_Mutation	41						
THEG	0	broad.mit.edu	GRCh37	19	362390	362390	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-4068-01	TCGA-19-4068-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342640.4:c.950G>A	p.Arg317Gln	p.R317Q	ENST00000342640	NM_016585.4	317	cGa/cAa	0			1			T	R/Q	uc002lol.2	protein_coding	YES	CCDS12025.1			950/1140									ovary(1)	1	c.(949-951)CGA>CAA			hmmpanther:PTHR15901,hmmpanther:PTHR15901:SF13,Pfam_domain:PF14912	Theg homolog isoform 1				ENSP00000340088		8-Aug	8.24E-06					1.51E-05			rs765286177,COSM2156482	8-Aug	.		ENST00000342640	Transcript			cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	ENSG00000105549	g.chr19:362390C>T	13706			MODERATE		2.31	medium	getma.org/?cm=msa&ty=f&p=THEG_HUMAN&rb=44&re=351&var=R317Q	NA	getma.org/?cm=var&var=hg19,19,362390,C,T&fts=all	R317Q	--	--	1																																		THEG_uc002lom.2_Missense_Mutation_p.R293Q	0,1	1		probably_damaging(0.995)	p.R317Q	NM_016585	NP_057669		deleterious(0)	0,1	THEG_HUMAN	THEG	HGNC	Q9P2T0	THEG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)			8	989	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	UPI000006E5C6	317					SNV	THEG,missense_variant,p.Arg317Gln,ENST00000342640,NM_016585.4;THEG,missense_variant,p.Glu174Lys,ENST00000530711,;THEG,missense_variant,p.Arg293Gln,ENST00000346878,NM_199202.2;THEG,downstream_gene_variant,,ENST00000528213,;	uc002lol.2	c.950G>A	993/1326	2	2			c.950G>A						19	SNP	c.(949-951)CGA>CAA	36	36			ovary(1)	1	Broad	Theg homolog isoform 1			362390		0.577	ENSG00000105549	15612	g.chr19:362390C>T	cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding							256.675768	KEEP	45	56	-1	69	108	45	56	-1	260.249709	69	108	0.368644	1	0	0	0	0	1	0	0	0	--	--		0	T			THEG_uc002lom.2_Missense_Mutation_p.R293Q	168	GBM-19-4068-TP	p.R317Q	C	GCGAGGATCTCGGTCAGGAAC	NM_016585	NP_057669	362390	Q9P2T0	THEG_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	989	-	T	T		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	Missense_Mutation	317						
THEG	0	broad.mit.edu	GRCh37	19	362356	362356	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6191-01	TCGA-76-6191-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342640.4:c.984G>A	p.Lys328=	p.K328=	ENST00000342640	NM_016585.4	328	aaG/aaA	0			1			T	K	uc002lol.2	protein_coding	YES	CCDS12025.1			984/1140									ovary(1)	1	c.(982-984)AAG>AAA			hmmpanther:PTHR15901,hmmpanther:PTHR15901:SF13,Pfam_domain:PF14912,Pfam_domain:PF14912,SMART_domains:SM00705	Theg homolog isoform 1				ENSP00000340088		8-Aug										8-Aug	.		ENST00000342640	Transcript			cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	ENSG00000105549	g.chr19:362356C>T	13706			LOW								--	--	1																																		THEG_uc002lom.2_Silent_p.K304K		1			p.K328K	NM_016585	NP_057669				THEG_HUMAN	THEG	HGNC	Q9P2T0	THEG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)			8	1023	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	UPI000006E5C6	328			THEG 6.		SNV	THEG,missense_variant,p.Arg185Lys,ENST00000530711,;THEG,synonymous_variant,p.=,ENST00000342640,NM_016585.4;THEG,synonymous_variant,p.=,ENST00000346878,NM_199202.2;THEG,downstream_gene_variant,,ENST00000528213,;	uc002lol.2	c.984G>A	1027/1326	2	2			c.984G>A						19	SNP	c.(982-984)AAG>AAA	26	26			ovary(1)	1	Broad	Theg homolog isoform 1			362356		0.617	ENSG00000105549	15612	g.chr19:362356C>T	cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding							174.214556	KEEP	22	43	-1	40	33	22	43	-1	174.470964	40	33	0.45082	1	0	0	0	0	0	0	1	0	--	--		0	T			THEG_uc002lom.2_Silent_p.K304K	274	GBM-76-6191-TP	p.K328K	C	CCACCACCTTCTTGGTGACAT	NM_016585	NP_057669	362356	Q9P2T0	THEG_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1023	-	T	T		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	Silent	328			THEG 6.			
THEM5	284486	broad.mit.edu	GRCh37	1	151820732	151820732	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0650-01	TCGA-06-0650-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368817.5:c.501C>T	p.Asp167=	p.D167=	ENST00000368817	NM_182578.3	167	gaC/gaT	0	A:0		1			A	D	uc009wnd.2	protein_coding	YES	CCDS1005.1			501/744									ovary(1)|skin(1)	2	c.(499-501)GAC>GAT			Gene3D:3.10.129.10,Pfam_domain:PF03061,hmmpanther:PTHR12418,hmmpanther:PTHR12418:SF9,Superfamily_domains:SSF54637	thioesterase superfamily member 5			A:0.0001	ENSP00000357807		6-Apr	8.24E-06							6.06E-05	rs372391484,COSM2184027	6-Apr	.		ENST00000368817	Transcript					hydrolase activity	ENSG00000196407	g.chr1:151820732G>A	26755			LOW								--	--	1																																			0,1	1			p.D167D	NM_182578	NP_872384			0,1	ACO15_HUMAN	THEM5	HGNC	Q8N1Q8	THEM5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)				4	633	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		UPI000013E246	167					SNV	THEM5,synonymous_variant,p.=,ENST00000368817,NM_182578.3;THEM5,synonymous_variant,p.=,ENST00000453881,;AL450992.2,intron_variant,,ENST00000434182,;	uc009wnd.2	c.501C>T	633/984	1	1			c.501C>T						1	SNP	c.(499-501)GAC>GAT	60	60			ovary(1)|skin(1)	2	Broad	thioesterase superfamily member 5			151820732		0.587	ENSG00000196407	15614	g.chr1:151820732G>A			hydrolase activity							17.544159	KEEP	4	12	-1	52	39	4	12	-1	30.357644	52	39	0.132653	1	0	0	0	0	0	0	1	0	--	--		0	A				63	GBM-06-0650-TP	p.D167D	G	AAAAGGTCTCGTCCATCATGG	NM_182578	NP_872384	151820732	Q8N1Q8	THEM5_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.181)		4	633	-	A	A	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		Silent	167						
THEM5	284486		GRCh37	1	151820732	151820732	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000368817.5:c.501C>T	p.Asp167=	p.D167=	ENST00000368817	NM_182578.3	167	gaC/gaT	0																																																																																																																																																																																																																																												
THEMIS	387357		GRCh37	6	128134889	128134889	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000543064.1:c.897C>T	p.Ser299=	p.S299=	ENST00000543064	NM_001164685.1	299	agC/agT	0																																																																																																																																																																																																																																												
THNSL1	79896	broad.mit.edu	GRCh37	10	25313145	25313145	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0126-01	TCGA-06-0126-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000524413.1:c.993G>A	p.Arg331=	p.R331=	ENST00000524413		331	agG/agA	0			1			A	R	uc001isi.3	protein_coding		CCDS7147.1			993/2232									pancreas(1)	1	c.(991-993)AGG>AGA			hmmpanther:PTHR10314,hmmpanther:PTHR10314:SF1,TIGRFAM_domain:TIGR00260,Superfamily_domains:SSF53686	threonine synthase-like 1	L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)			ENSP00000365534		3-Mar									COSM2149432	3-Mar	.		ENST00000376356	Transcript			threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity	ENSG00000185875	g.chr10:25313145G>A	26160			LOW								--	--	1																																		ENKUR_uc001ish.1_Intron	1				p.R331R	NM_024838	NP_079114			1	THNS1_HUMAN	THNSL1	HGNC	Q8IYQ7	THNS1_HUMAN			Q9H6P9_HUMAN,Q8N9J5_HUMAN		3	1322	+			UPI00001F9045	331					SNV	THNSL1,synonymous_variant,p.=,ENST00000524413,;THNSL1,synonymous_variant,p.=,ENST00000376356,NM_024838.4;	uc001isi.3	c.993G>A	1243/3691	1	1			c.993G>A						10	SNP	c.(991-993)AGG>AGA	55	55			pancreas(1)	1	Broad	threonine synthase-like 1		L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	25313145		0.433	ENSG00000185875	15617	g.chr10:25313145G>A	threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity							158.723645	KEEP	34	19	-1	11	12	34	19	-1	160.872063	11	12	0.685714	1	0	0	0	0	0	0	1	0	--	--		0	A			ENKUR_uc001ish.1_Intron	13	GBM-06-0126-TP	p.R331R	G	CTCCTGTCAGGCACCTTTCAG	NM_024838	NP_079114	25313145	Q8IYQ7	THNS1_HUMAN	0			3	1322	+	A	A			Silent	331						
THNSL1	0	broad.mit.edu	GRCh37	10	25313035	25313035	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-1825-01	TCGA-14-1825-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376356.4:c.883C>A	p.Leu295Met	p.L295M	ENST00000376356	NM_024838.4	295	Ctg/Atg	0			1			A	L/M	uc001isi.3	protein_coding		CCDS7147.1			883/2232									pancreas(1)	1	c.(883-885)CTG>ATG			hmmpanther:PTHR10314,hmmpanther:PTHR10314:SF1,Pfam_domain:PF14821,Gene3D:1kl7A01,Superfamily_domains:SSF53686	threonine synthase-like 1	L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)			ENSP00000365534		3-Mar									COSM3397062	3-Mar	.		ENST00000376356	Transcript			threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity	ENSG00000185875	g.chr10:25313035C>A	26160			MODERATE		1.955	medium	getma.org/?cm=msa&ty=f&p=THNS1_HUMAN&rb=222&re=324&var=L295M	getma.org/pdb.php?prot=THNS1_HUMAN&from=222&to=324&var=L295M	getma.org/?cm=var&var=hg19,10,25313035,C,A&fts=all	L295M	--	--	1																																		ENKUR_uc001ish.1_Intron	1			benign(0.385)	p.L295M	NM_024838	NP_079114		tolerated(0.06)	1	THNS1_HUMAN	THNSL1	HGNC	Q8IYQ7	THNS1_HUMAN			Q9H6P9_HUMAN,Q8N9J5_HUMAN		3	1212	+			UPI00001F9045	295					SNV	THNSL1,missense_variant,p.Leu295Met,ENST00000524413,;THNSL1,missense_variant,p.Leu295Met,ENST00000376356,NM_024838.4;	uc001isi.3	c.883C>A	1133/3691	2	2			c.883C>A						10	SNP	c.(883-885)CTG>ATG	26	26			pancreas(1)	1	Broad	threonine synthase-like 1		L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	25313035		0.458	ENSG00000185875	15617	g.chr10:25313035C>A	threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity							146.186255	KEEP	24	19	0.441860465	2	2	24	19	0.441860465	154.127716	2	2	0.913043	1	0	0	0	0	1	0	0	0	--	--		0	A			ENKUR_uc001ish.1_Intron	148	GBM-14-1825-TP	p.L295M	C	AGCACAGATACTGTTGGAAAG	NM_024838	NP_079114	25313035	Q8IYQ7	THNS1_HUMAN	0			3	1212	+	A	A			Missense_Mutation	295						
THNSL2	0	broad.mit.edu	GRCh37	2	88472749	88472749	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01	TCGA-19-2625-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324166.5:c.80G>A	p.Gly27Glu	p.G27E	ENST00000324166	NM_018271.4	27	gGg/gAg	0			1			A	G/E	uc002ssz.3	protein_coding	YES	CCDS2002.2			80/1455									ovary(1)	1	c.(79-81)GGG>GAG			hmmpanther:PTHR10314:SF89,hmmpanther:PTHR10314,Pfam_domain:PF14821,Gene3D:1kl7A01,Superfamily_domains:SSF53686	threonine synthase-like 2				ENSP00000327323		8-Jan									COSM3408025,COSM3408026	8-Jan	.		ENST00000324166	Transcript			threonine biosynthetic process		threonine synthase activity	ENSG00000144115	g.chr2:88472749G>A	25602			MODERATE		3.725	high	getma.org/?cm=msa&ty=f&p=THNS2_HUMAN&rb=1&re=87&var=G27E	getma.org/pdb.php?prot=THNS2_HUMAN&from=1&to=87&var=G27E	getma.org/?cm=var&var=hg19,2,88472749,G,A&fts=all	G27E	--	--	1																																		THNSL2_uc002ssv.2_Intron|THNSL2_uc002ssw.3_Missense_Mutation_p.G27E|THNSL2_uc002ssx.3_Intron|THNSL2_uc002sta.3_Intron|THNSL2_uc002ssy.3_Missense_Mutation_p.G27E	1,1	1		probably_damaging(0.978)	p.G27E	NM_018271	NP_060741		deleterious(0)	1,1	THNS2_HUMAN	THNSL2	HGNC	Q86YJ6	THNS2_HUMAN			C9J3J1_HUMAN		2	233	+			UPI00002088D9	27					SNV	THNSL2,missense_variant,p.Gly27Glu,ENST00000324166,NM_018271.4;THNSL2,missense_variant,p.Gly27Glu,ENST00000358591,;THNSL2,missense_variant,p.Gly27Glu,ENST00000343544,NM_001244676.1;THNSL2,missense_variant,p.Gly27Glu,ENST00000377254,;THNSL2,missense_variant,p.Gly27Glu,ENST00000402102,;THNSL2,missense_variant,p.Gly27Glu,ENST00000419759,;THNSL2,intron_variant,,ENST00000449349,;THNSL2,upstream_gene_variant,,ENST00000496844,;THNSL2,upstream_gene_variant,,ENST00000475910,;	uc002ssz.3	c.80G>A	1771/3649	2	2			c.80G>A						2	SNP	c.(79-81)GGG>GAG	21	21			ovary(1)	1	Broad	threonine synthase-like 2			88472749		0.607	ENSG00000144115	15618	g.chr2:88472749G>A	threonine biosynthetic process		threonine synthase activity							67.608045	KEEP	19	13	-1	76	56	19	13	-1	81.174609	76	56	0.190789	1	0	0	0	0	1	0	0	0	--	--		0	A			THNSL2_uc002ssv.2_Intron|THNSL2_uc002ssw.3_Missense_Mutation_p.G27E|THNSL2_uc002ssx.3_Intron|THNSL2_uc002sta.3_Intron|THNSL2_uc002ssy.3_Missense_Mutation_p.G27E	165	GBM-19-2625-TP	p.G27E	G	GCACCTGACGGGGGCCTCTTT	NM_018271	NP_060741	88472749	Q86YJ6	THNS2_HUMAN	0			2	233	+	A	A			Missense_Mutation	27						
THOC1	0	broad.mit.edu	GRCh37	18	247872	247874	+	inframe_deletion	In_Frame_Del	DEL	TCT	TCT	-			TCGA-19-2631-01	TCGA-19-2631-01	TCT	TCT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261600.6:c.761_763delAGA	p.Lys254del	p.K254del	ENST00000261600	NM_005131.2	254	aAGAtt/att	0			1			-	KI/I	uc002kkj.3	protein_coding	YES	CCDS45820.1			761-763/1974									ovary(1)	1	c.(760-765)AAGATT>ATT			hmmpanther:PTHR13265,hmmpanther:PTHR13265:SF0,Pfam_domain:PF11957	THO complex 1				ENSP00000261600		21-Oct										21-Oct	.		ENST00000261600	Transcript			apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding	ENSG00000079134	g.chr18:247872_247874delTCT	19070			MODERATE								--	--	1																																		THOC1_uc002kkk.3_RNA|THOC1_uc002kkl.2_In_Frame_Del_p.K254del		1			p.K254del	NM_005131	NP_005122				THOC1_HUMAN	THOC1	HGNC	Q96FV9	THOC1_HUMAN					10	801_803	-		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	UPI0000071782	254					deletion	THOC1,inframe_deletion,p.Lys254del,ENST00000261600,NM_005131.2;THOC1,inframe_deletion,p.Lys42del,ENST00000584642,;THOC1,upstream_gene_variant,,ENST00000579891,;THOC1,non_coding_transcript_exon_variant,,ENST00000582313,;THOC1,inframe_deletion,p.Arg238del,ENST00000580038,;THOC1,non_coding_transcript_exon_variant,,ENST00000578529,;THOC1,non_coding_transcript_exon_variant,,ENST00000579232,;THOC1,non_coding_transcript_exon_variant,,ENST00000577552,;THOC1,upstream_gene_variant,,ENST00000583228,;	uc002kkj.3	c.761_763delAGA	769-771/2087	5	5			c.761_763delAGA						18	DEL	c.(760-765)AAGATT>ATT	41	41			ovary(1)	1	Broad	THO complex 1			247874		0.35	ENSG00000079134	15619	g.chr18:247872_247874delTCT	apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding																				0.34	1	1	0	1	0	0	0	0	0	--	--		0	-			THOC1_uc002kkk.3_RNA|THOC1_uc002kkl.2_In_Frame_Del_p.K254del	167	GBM-19-2631-TP	p.K254del	TCT	TTCCATGAAATCTTCTCATAGCA	NM_005131	NP_005122	247872	Q96FV9	THOC1_HUMAN	0			10	801_803	-	-	-		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	In_Frame_Del	254						
THOC1	9984		GRCh37	18	225100	225100	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000261600.6:c.1126A>G	p.Lys376Glu	p.K376E	ENST00000261600	NM_005131.2	376	Aag/Gag	0																																																																																																																																																																																																																																												
THOC2	0	broad.mit.edu	GRCh37	X	122748018	122748020	+	inframe_deletion	In_Frame_Del	DEL	GGA	GGA	-			TCGA-14-0789-01	TCGA-14-0789-01	GGA	GGA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245838.8:c.4332_4334delTCC	p.Pro1446del	p.P1446del	ENST00000245838	NM_001081550.1	1444	ccTCCa/cca	0			1			-	PP/P	uc004etu.2	protein_coding	YES	CCDS43988.1			4332-4334/4782									ovary(3)	3	c.(4330-4335)CCTCCA>CCA			hmmpanther:PTHR21597,hmmpanther:PTHR21597:SF1	THO complex 2				ENSP00000245838		34/39										34/39	.		ENST00000245838	Transcript			intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	ENSG00000125676	g.chrX:122748018_122748020delGGA	19073			MODERATE								--	--	1																																		THOC2_uc010nqt.1_RNA|THOC2_uc004etw.1_In_Frame_Del_p.265_266PP>P		1			p.1444_1445PP>P	NM_001081550	NP_001075019				THOC2_HUMAN	THOC2	HGNC	Q8NI27	THOC2_HUMAN					34	4364_4366	-			UPI00001D7C42	1444_1445			Lys-rich.		deletion	THOC2,inframe_deletion,p.Pro1446del,ENST00000245838,NM_001081550.1;THOC2,inframe_deletion,p.Pro1446del,ENST00000355725,;THOC2,inframe_deletion,p.Pro1331del,ENST00000491737,;THOC2,inframe_deletion,p.Pro241del,ENST00000441692,;THOC2,inframe_deletion,p.Pro42del,ENST00000448128,;THOC2,inframe_deletion,p.Pro35del,ENST00000416618,;THOC2,upstream_gene_variant,,ENST00000455053,;THOC2,non_coding_transcript_exon_variant,,ENST00000497887,;THOC2,upstream_gene_variant,,ENST00000492203,;THOC2,3_prime_UTR_variant,,ENST00000432353,;THOC2,non_coding_transcript_exon_variant,,ENST00000496830,;THOC2,non_coding_transcript_exon_variant,,ENST00000464992,;	uc004etu.2	c.4332_4334delTCC	4364-4366/5609	5	5			c.4332_4334delTCC						23	DEL	c.(4330-4335)CCTCCA>CCA	9	9			ovary(3)	3	Broad	THO complex 2			122748020		0.355	ENSG00000125676	15620	g.chrX:122748018_122748020delGGA	intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding																				0.4	1	1	0	1	0	0	0	0	0	--	--		0	-			THOC2_uc010nqt.1_RNA|THOC2_uc004etw.1_In_Frame_Del_p.265_266PP>P	136	GBM-14-0789-TP	p.1444_1445PP>P	GGA	GGACAGTGGTGGAGGAGTATGAT	NM_001081550	NP_001075019	122748018	Q8NI27	THOC2_HUMAN	0			34	4364_4366	-	-	-			In_Frame_Del	1444_1445			Lys-rich.			
THOC2	0	broad.mit.edu	GRCh37	X	122799518	122799518	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01	TCGA-14-2554-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245838.8:c.1361G>A	p.Arg454His	p.R454H	ENST00000245838	NM_001081550.1	454	cGc/cAc	0			1			T	R/H	uc004etu.2	protein_coding	YES	CCDS43988.1			1361/4782									ovary(3)	3	c.(1360-1362)CGC>CAC			hmmpanther:PTHR21597,hmmpanther:PTHR21597:SF1	THO complex 2				ENSP00000245838		Dec-39									COSM3405913,COSM3405912	Dec-39	.		ENST00000245838	Transcript			intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	ENSG00000125676	g.chrX:122799518C>T	19073			MODERATE		3.075	medium	getma.org/?cm=msa&ty=f&p=THOC2_HUMAN&rb=401&re=567&var=R454H	NA	getma.org/?cm=var&var=hg19,X,122799518,C,T&fts=all	R454H	--	--	1																																		THOC2_uc011muh.1_Missense_Mutation_p.R375H|THOC2_uc011mui.1_Missense_Mutation_p.R339H	1,1	1		probably_damaging(0.999)	p.R454H	NM_001081550	NP_001075019		deleterious(0)	1,1	THOC2_HUMAN	THOC2	HGNC	Q8NI27	THOC2_HUMAN					12	1393	-			UPI00001D7C42	454					SNV	THOC2,missense_variant,p.Arg454His,ENST00000245838,NM_001081550.1;THOC2,missense_variant,p.Arg454His,ENST00000355725,;THOC2,missense_variant,p.Arg339His,ENST00000491737,;THOC2,downstream_gene_variant,,ENST00000433883,;	uc004etu.2	c.1361G>A	1393/5609	1	1			c.1361G>A						23	SNP	c.(1360-1362)CGC>CAC	1	1			ovary(3)	3	Broad	THO complex 2			122799518		0.358	ENSG00000125676	15620	g.chrX:122799518C>T	intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding							61.067427	KEEP	26	15	-1	111	134	26	15	-1	93.300515	111	134	0.143939	1	0	0	0	0	1	0	0	0	--	--		0	T			THOC2_uc011muh.1_Missense_Mutation_p.R375H|THOC2_uc011mui.1_Missense_Mutation_p.R339H	150	GBM-14-2554-TP	p.R454H	C	CTTGCCTATGCGCACCACTTT	NM_001081550	NP_001075019	122799518	Q8NI27	THOC2_HUMAN	0			12	1393	-	T	T			Missense_Mutation	454						
THOC2	0	broad.mit.edu	GRCh37	X	122799597	122799597	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-2623-01	TCGA-19-2623-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245838.8:c.1282A>G	p.Arg428Gly	p.R428G	ENST00000245838	NM_001081550.1	428	Agg/Ggg	0			1			C	R/G	uc004etu.2	protein_coding	YES	CCDS43988.1			1282/4782									ovary(3)	3	c.(1282-1284)AGG>GGG			hmmpanther:PTHR21597,hmmpanther:PTHR21597:SF1	THO complex 2				ENSP00000245838		Dec-39									COSM3405915,COSM3405914	Dec-39	.		ENST00000245838	Transcript			intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	ENSG00000125676	g.chrX:122799597T>C	19073			MODERATE		2.08	medium	getma.org/?cm=msa&ty=f&p=THOC2_HUMAN&rb=401&re=567&var=R428G	NA	getma.org/?cm=var&var=hg19,X,122799597,T,C&fts=all	R428G	--	--	1																																		THOC2_uc011muh.1_Missense_Mutation_p.R349G|THOC2_uc011mui.1_Missense_Mutation_p.R313G	1,1	1		benign(0.007)	p.R428G	NM_001081550	NP_001075019		deleterious(0.01)	1,1	THOC2_HUMAN	THOC2	HGNC	Q8NI27	THOC2_HUMAN					12	1314	-			UPI00001D7C42	428					SNV	THOC2,missense_variant,p.Arg428Gly,ENST00000245838,NM_001081550.1;THOC2,missense_variant,p.Arg428Gly,ENST00000355725,;THOC2,missense_variant,p.Arg313Gly,ENST00000491737,;THOC2,downstream_gene_variant,,ENST00000433883,;	uc004etu.2	c.1282A>G	1314/5609	3	3			c.1282A>G						23	SNP	c.(1282-1284)AGG>GGG	64	64			ovary(3)	3	Broad	THO complex 2			122799597		0.403	ENSG00000125676	15620	g.chrX:122799597T>C	intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding							-28.297573	KEEP	1	2	-1	74	73	1	2	-1	6.379763	74	73	0.022059	1	0	0	0	0	1	0	0	0	--	--		0	C			THOC2_uc011muh.1_Missense_Mutation_p.R349G|THOC2_uc011mui.1_Missense_Mutation_p.R313G	163	GBM-19-2623-TP	p.R428G	T	ACGTCTCTCCTCAAATCTTCA	NM_001081550	NP_001075019	122799597	Q8NI27	THOC2_HUMAN	0			12	1314	-	C	C			Missense_Mutation	428						
THOC5	8563	broad.mit.edu	GRCh37	22	29913061	29913061	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0158-01	TCGA-06-0158-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000490103.1:c.1638G>A	p.Gly546=	p.G546=	ENST00000490103	NM_003678.4	546	ggG/ggA	0			1			T	G	uc003afr.2	protein_coding		CCDS13859.1			1638/2052									breast(3)	3	c.(1636-1638)GGG>GGA			hmmpanther:PTHR13375,hmmpanther:PTHR13375:SF3	THO complex 5				ENSP00000380969		17/20									COSM3405580	17/20	.		ENST00000397871	Transcript			intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	ENSG00000100296	g.chr22:29913061C>T	19074			LOW								--	--	1																																		THOC5_uc003afq.2_Silent_p.G207G|THOC5_uc003afs.2_Silent_p.G546G|THOC5_uc003aft.2_Silent_p.G546G|THOC5_uc003afu.2_Silent_p.G546G|THOC5_uc010gvo.2_Silent_p.G290G	1				p.G546G	NM_001002878	NP_001002878			1	THOC5_HUMAN	THOC5	HGNC	Q13769	THOC5_HUMAN			C9JXU6_HUMAN,C9JXG5_HUMAN,C9JCL9_HUMAN		18	1973	-			UPI000013FD77	546					SNV	THOC5,synonymous_variant,p.=,ENST00000490103,NM_003678.4;THOC5,synonymous_variant,p.=,ENST00000397872,NM_001002878.1;THOC5,synonymous_variant,p.=,ENST00000397871,NM_001002879.1;THOC5,synonymous_variant,p.=,ENST00000397873,NM_001002877.1;CTA-256D12.11,intron_variant,,ENST00000411969,;THOC5,3_prime_UTR_variant,,ENST00000442555,;THOC5,3_prime_UTR_variant,,ENST00000358079,;THOC5,downstream_gene_variant,,ENST00000484924,;	uc003afr.2	c.1638G>A	1857/2560	1	1			c.1638G>A						22	SNP	c.(1636-1638)GGG>GGA	11	11			breast(3)	3	Broad	THO complex 5			29913061		0.527	ENSG00000100296	15623	g.chr22:29913061C>T	intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding							-23.697111	KEEP	4	3	-1	127	129	4	3	-1	14.800038	127	129	0.041176	1	0	0	0	0	0	0	1	0	--	--		0	T			THOC5_uc003afq.2_Silent_p.G207G|THOC5_uc003afs.2_Silent_p.G546G|THOC5_uc003aft.2_Silent_p.G546G|THOC5_uc003afu.2_Silent_p.G546G|THOC5_uc010gvo.2_Silent_p.G290G	29	GBM-06-0158-TP	p.G546G	C	GATTGGTGTCCCCAGCCAGTC	NM_001002878	NP_001002878	29913061	Q13769	THOC5_HUMAN	0			18	1973	-	T	T			Silent	546						
THPO	0	broad.mit.edu	GRCh37	3	184090840	184090840	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs144953270		TCGA-19-4068-01	TCGA-19-4068-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000204615.7:c.523C>T	p.Arg175Trp	p.R175W	ENST00000204615	NM_000460.2	175	Cgg/Tgg	0			1			A	R/W	uc003fol.1	protein_coding	YES	CCDS3265.1			523/1062									ovary(1)	1	c.(523-525)CGG>TGG			hmmpanther:PTHR10560,Pfam_domain:PF00758,Gene3D:1.20.1250.10	thrombopoietin precursor				ENSP00000204615		6-Jun									COSM2156478	6-Jun	.		ENST00000204615	Transcript	1		cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity	ENSG00000090534	g.chr3:184090840G>A	11795			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=TPO_HUMAN&rb=24&re=188&var=R175W	NA	getma.org/?cm=var&var=hg19,3,184090840,G,A&fts=all	R175W	--	--	1																																		THPO_uc003fom.1_Missense_Mutation_p.R171W|THPO_uc003fon.2_Intron|THPO_uc011bro.1_Intron|THPO_uc003fop.2_Intron|THPO_uc011brp.1_Intron|THPO_uc011brq.1_Intron|THPO_uc003for.1_Intron|THPO_uc003fos.1_Intron	1	1		probably_damaging(0.984)	p.R175W	NM_000460	NP_000451		deleterious(0)	1	TPO_HUMAN	THPO	HGNC	P40225	TPO_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)				6	738	-	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		UPI000004A8D1	175					SNV	THPO,missense_variant,p.Arg175Trp,ENST00000204615,NM_000460.2,NM_001177597.1,NM_001177598.1;THPO,missense_variant,p.Arg171Trp,ENST00000445696,;EIF2B5,intron_variant,,ENST00000444495,;THPO,intron_variant,,ENST00000421442,;POLR2H,downstream_gene_variant,,ENST00000456318,;POLR2H,downstream_gene_variant,,ENST00000430783,NM_001278715.1,NM_001278714.1;POLR2H,downstream_gene_variant,,ENST00000438240,NM_001278700.1;POLR2H,downstream_gene_variant,,ENST00000429568,NM_001278698.1;POLR2H,downstream_gene_variant,,ENST00000455712,;POLR2H,downstream_gene_variant,,ENST00000296223,NM_006232.3,NM_001278699.1;POLR2H,downstream_gene_variant,,ENST00000443489,;POLR2H,downstream_gene_variant,,ENST00000452961,;THPO,intron_variant,,ENST00000477594,;POLR2H,downstream_gene_variant,,ENST00000488213,;POLR2H,downstream_gene_variant,,ENST00000476003,;POLR2H,downstream_gene_variant,,ENST00000489043,;	uc003fol.1	c.523C>T	738/1855	1	1			c.523C>T						3	SNP	c.(523-525)CGG>TGG	52	52			ovary(1)	1	Broad	thrombopoietin precursor			184090840		0.562	ENSG00000090534	15627	g.chr3:184090840G>A	cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity							156.90956	KEEP	42	35	-1	73	88	42	35	-1	161.897855	73	88	0.329897	1	0	0	0	0	1	0	0	0	--	--		0	A			THPO_uc003fom.1_Missense_Mutation_p.R171W|THPO_uc003fon.2_Intron|THPO_uc011bro.1_Intron|THPO_uc003fop.2_Intron|THPO_uc011brp.1_Intron|THPO_uc011brq.1_Intron|THPO_uc003for.1_Intron|THPO_uc003fos.1_Intron	168	GBM-19-4068-TP	p.R175W	G	GGTGGGGCCCGCCTGACGCAG	NM_000460	NP_000451	184090840	P40225	TPO_HUMAN	0	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		6	738	-	A	A	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Missense_Mutation	175						
THRAP3	9967	broad.mit.edu	GRCh37	1	36752347	36752347	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0126-01	TCGA-06-0126-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354618.5:c.516T>C	p.Ser172=	p.S172=	ENST00000354618	NM_005119.3	172	tcT/tcC	0			1			C	S	uc001cae.3	protein_coding	YES	CCDS405.1			516/2868	T		USP6		aneurysmal bone cysts				ovary(5)|lung(3)|breast(1)	9	c.(514-516)TCT>TCC			Pfam_domain:PF15440,hmmpanther:PTHR15268,hmmpanther:PTHR15268:SF16,Low_complexity_(Seg):seg	thyroid hormone receptor associated protein 3				ENSP00000346634		12-Apr									COSM2149440	12-Apr	.		ENST00000354618	Transcript			androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	ENSG00000054118	g.chr1:36752347T>C	22964			LOW								--	--	1																																		THRAP3_uc001caf.3_Silent_p.S172S|THRAP3_uc001cag.1_Silent_p.S172S	1	1			p.S172S	NM_005119	NP_005110			1	TR150_HUMAN	THRAP3	HGNC	Q9Y2W1	TR150_HUMAN			E9PML1_HUMAN		4	740	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	UPI0000203F28	172			Ser-rich.		SNV	THRAP3,synonymous_variant,p.=,ENST00000354618,NM_005119.3;THRAP3,synonymous_variant,p.=,ENST00000469141,;THRAP3,downstream_gene_variant,,ENST00000478853,;THRAP3,upstream_gene_variant,,ENST00000466743,;	uc001cae.3	c.516T>C	740/4432	3	3			c.516T>C	T		USP6		aneurysmal bone cysts	1	SNP	c.(514-516)TCT>TCC	5	5			ovary(5)|lung(3)|breast(1)	9	Broad	thyroid hormone receptor associated protein 3			36752347		0.527	ENSG00000054118	15629	g.chr1:36752347T>C	androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	Pancreas(129;785 1795 20938 23278 32581)		199	Pancreas(129;785 1795 20938 23278 32581)		199	556.457849	KEEP	89	88	-1	158	124	89	88	-1	560.626231	158	124	0.390428	1	0	0	0	0	0	0	1	0	--	--		0	C			THRAP3_uc001caf.3_Silent_p.S172S|THRAP3_uc001cag.1_Silent_p.S172S	13	GBM-06-0126-TP	p.S172S	T	TTGAATCTTCTAAGCGCAAGT	NM_005119	NP_005110	36752347	Q9Y2W1	TR150_HUMAN	0			4	740	+	C	C		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	Silent	172			Ser-rich.			
THRSP	7069	broad.mit.edu	GRCh37	11	77775138	77775138	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0122-01	TCGA-06-0122-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281030.2:c.211G>C	p.Asp71His	p.D71H	ENST00000281030	NM_003251.3	71	Gac/Cac	0			1			C	D/H	uc001oyx.2	protein_coding	YES	CCDS8256.1			211/441									breast(1)	1	c.(211-213)GAC>CAC			Pfam_domain:PF07084,hmmpanther:PTHR14315,hmmpanther:PTHR14315:SF13	thyroid hormone-responsive protein				ENSP00000281030		2-Jan									COSM2149171	2-Jan	.		ENST00000281030	Transcript			lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus		ENSG00000151365	g.chr11:77775138G>C	11800			MODERATE								--	--	1																																			1	1		possibly_damaging(0.886)	p.D71H	NM_003251	NP_003242		deleterious(0)	1	THRSP_HUMAN	THRSP	HGNC	Q92748	THRSP_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)				1	232	+	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		UPI00000015FF	71					SNV	THRSP,missense_variant,p.Asp71His,ENST00000281030,NM_003251.3;NDUFC2-KCTD14,intron_variant,,ENST00000530054,NM_001203261.1;NDUFC2-KCTD14,intron_variant,,ENST00000528251,;NDUFC2,downstream_gene_variant,,ENST00000281031,NM_004549.5,NM_001204055.1;NDUFC2,downstream_gene_variant,,ENST00000527806,NM_001204054.1;	uc001oyx.2	c.211G>C	232/1174	4	4			c.211G>C						11	SNP	c.(211-213)GAC>CAC	47	47			breast(1)	1	Broad	thyroid hormone-responsive protein			77775138		0.642	ENSG00000151365	15631	g.chr11:77775138G>C	lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus				11			11	132.803074	KEEP	32	18	-1	56	31	32	18	-1	135.138481	56	31	0.352459	1	0	0	0	0	1	0	0	0	--	--		0	C				10	GBM-06-0122-TP	p.D71H	G	TGTGGATGTGGACCATGGGCT	NM_003251	NP_003242	77775138	Q92748	THRSP_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)		1	232	+	C	C	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		Missense_Mutation	71						
THSD4	79875	broad.mit.edu	GRCh37	15	71535188	71535188	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01	TCGA-06-2565-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355327.3:c.665G>A	p.Gly222Glu	p.G222E	ENST00000355327		222	gGg/gAg	0			1			A	G/E	uc002atb.1	protein_coding	YES	CCDS10238.2			665/3057									ovary(2)	2	c.(664-666)GGG>GAG			PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF16	thrombospondin, type I, domain containing 4				ENSP00000347484		18-May									COSM2152995	18-May	.		ENST00000355327	Transcript				proteinaceous extracellular matrix	metalloendopeptidase activity	ENSG00000187720	g.chr15:71535188G>A	25835			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=THSD4_HUMAN&rb=53&re=307&var=G222E	NA	getma.org/?cm=var&var=hg19,15,71535188,G,A&fts=all	G222E	--	--	1																																		THSD4_uc002atd.1_5'UTR	1	1		benign(0.05)	p.G222E	NM_024817	NP_079093		tolerated(1)	1	THSD4_HUMAN	THSD4	HGNC	Q6ZMP0	THSD4_HUMAN					4	744	+			UPI00001A797D	222			TSP type-1 1.		SNV	THSD4,missense_variant,p.Gly222Glu,ENST00000355327,;THSD4,missense_variant,p.Gly222Glu,ENST00000261862,NM_024817.2;	uc002atb.1	c.665G>A	799/9200	2	2			c.665G>A						15	SNP	c.(664-666)GGG>GAG	18	18			ovary(2)	2	Broad	thrombospondin, type I, domain containing 4			71535188		0.597	ENSG00000187720	15633	g.chr15:71535188G>A		proteinaceous extracellular matrix	metalloendopeptidase activity							205.392944	KEEP	28	40	-1	41	40	28	40	-1	205.615385	41	40	0.457143	1	0	0	0	0	1	0	0	0	--	--		0	A			THSD4_uc002atd.1_5'UTR	88	GBM-06-2565-TP	p.G222E	G	CCCCAACATGGGCCTTTGTAC	NM_024817	NP_079093	71535188	Q6ZMP0	THSD4_HUMAN	0			4	744	+	A	A			Missense_Mutation	222			TSP type-1 1.			
THSD4	79875		GRCh37	15	72037463	72037463	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000355327.3:c.1925T>C	p.Phe642Ser	p.F642S	ENST00000355327		642	tTc/tCc	0																																																																																																																																																																																																																																												
THSD7A	221981	broad.mit.edu	GRCh37	7	11422186	11422186	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0169-01	TCGA-06-0169-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000423059.4:c.4469C>T	p.Thr1490Ile	p.T1490I	ENST00000423059	NM_015204.2	1490	aCa/aTa	0			1			A	T/I	uc003ssf.3	protein_coding	YES	CCDS47543.1			4469/4974									ovary(3)	3	c.(4468-4470)ACA>ATA			hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF8	thrombospondin, type I, domain containing 7A				ENSP00000406482		24/28									COSM3411495	24/28	.		ENST00000423059	Transcript				integral to membrane		ENSG00000005108	g.chr7:11422186G>A	22207			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=THS7A_HUMAN&rb=1475&re=1657&var=T1490I	NA	getma.org/?cm=var&var=hg19,7,11422186,G,A&fts=all	T1490I	--	--	1				HNSCC(18;0.044)																														uc003ssb.2_Intron|THSD7A_uc003ssd.3_5'Flank	1	1		benign(0.003)	p.T1490I	NM_015204	NP_056019		tolerated(0.07)	1	THS7A_HUMAN	THSD7A	HGNC	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)			23	4721	-			UPI00006C0B74	1490			Extracellular (Potential).		SNV	THSD7A,missense_variant,p.Thr1490Ile,ENST00000423059,NM_015204.2;AC004538.3,intron_variant,,ENST00000421121,;AC004538.3,intron_variant,,ENST00000428533,;AC004538.3,intron_variant,,ENST00000595972,;AC004538.3,intron_variant,,ENST00000445839,;AC004538.3,downstream_gene_variant,,ENST00000599875,;AC004538.3,downstream_gene_variant,,ENST00000428967,;THSD7A,upstream_gene_variant,,ENST00000408005,;	uc003ssf.3	c.4469C>T	4721/10663	2	2			c.4469C>T						7	SNP	c.(4468-4470)ACA>ATA	48	48			ovary(3)	3	Broad	thrombospondin, type I, domain containing 7A			11422186		0.418	ENSG00000005108	15634	g.chr7:11422186G>A		integral to membrane								32.346328	KEEP	7	10	-1	38	40	7	10	-1	40.5045	38	40	0.183908	1	0	0	0	0	1	0	0	0	--	--	HNSCC(18;0.044)	0	A			uc003ssb.2_Intron|THSD7A_uc003ssd.3_5'Flank	34	GBM-06-0169-TP	p.T1490I	G	ACACCACACTGTTCGGGAAGA	NM_015204	NP_056019	11422186	Q9UPZ6	THS7A_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	23	4721	-	A	A			Missense_Mutation	1490			Extracellular (Potential).			
THSD7A	221981	broad.mit.edu	GRCh37	7	11485827	11485827	+	synonymous_variant	Silent	SNP	T	T	A	rs79441692	by1000genomes	TCGA-06-0210-01	TCGA-06-0210-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000423059.4:c.2925A>T	p.Pro975=	p.P975=	ENST00000423059	NM_015204.2	975	ccA/ccT	0	C:0.006	C:0.0083	1	C:0.0014		A	P	uc003ssf.3	protein_coding	YES	CCDS47543.1			2925/4974									ovary(3)	3	c.(2923-2925)CCA>CCT			hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF8	thrombospondin, type I, domain containing 7A		C:0	C:0	ENSP00000406482	C:0	13/28									rs79441692,COSM3411503	13/28	.		ENST00000423059	Transcript		C:0.0024		integral to membrane		ENSG00000005108	g.chr7:11485827T>A	22207			LOW								--	--	1				HNSCC(18;0.044)																															0,1	1			p.P975P	NM_015204	NP_056019	C:0		0,1	THS7A_HUMAN	THSD7A	HGNC	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)			13	3177	-			UPI00006C0B74	975			TSP type-1 10.|Extracellular (Potential).		SNV	THSD7A,synonymous_variant,p.=,ENST00000423059,NM_015204.2;AC004538.3,intron_variant,,ENST00000445839,;THSD7A,downstream_gene_variant,,ENST00000497575,;	uc003ssf.3	c.2925A>T	3177/10663	2	2			c.2925A>T						7	SNP	c.(2923-2925)CCA>CCT	21	21			ovary(3)	3	Broad	thrombospondin, type I, domain containing 7A			11485827		0.423	ENSG00000005108	15634	g.chr7:11485827T>A		integral to membrane								107.376328	KEEP	25	34	-1	117	137	25	34	-1	135.038106	117	137	0.177305	1	0	0	0	0	0	0	1	0	--	--	HNSCC(18;0.044)	0	A				47	GBM-06-0210-TP	p.P975P	T	CTTTTCCCTCTGGTAAAATAC	NM_015204	NP_056019	11485827	Q9UPZ6	THS7A_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	13	3177	-	A	A			Silent	975			TSP type-1 10.|Extracellular (Potential).			
THSD7B	0	broad.mit.edu	GRCh37	2	138033556	138033556	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-1823-01	TCGA-14-1823-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000272643.3:c.2460G>A	p.Thr820=	p.T820=	ENST00000272643		820	acG/acA	0	T:0.0003		1			A	T	uc002tva.1	protein_coding	YES				2460/4830									ovary(4)|central_nervous_system(2)|pancreas(1)	7	c.(2365-2367)ACG>ACA			hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF7	thrombospondin, type I, domain containing 7B			T:0.0001	ENSP00000272643		28-Nov	0.000182	0.000102				0.000271		0.000184	rs369821530,COSM1481971,COSM1481972	28-Nov	.		ENST00000272643	Transcript						ENSG00000144229	g.chr2:138033556G>A	29348			LOW								--	--	1																																		THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Silent_p.T679T	0,1,1	1			p.T789T	NM_001080427	NP_001073896			0,1,1	THS7B_HUMAN	THSD7B	HGNC				BRCA - Breast invasive adenocarcinoma(221;0.19)			11	2367	+			UPI00015E0A18						SNV	THSD7B,synonymous_variant,p.=,ENST00000409968,;THSD7B,synonymous_variant,p.=,ENST00000272643,;THSD7B,synonymous_variant,p.=,ENST00000413152,NM_001080427.1;THSD7B,intron_variant,,ENST00000543459,;	uc002tva.1	c.2367G>A	2460/5942	2	2			c.2367G>A						2	SNP	c.(2365-2367)ACG>ACA	33	33			ovary(4)|central_nervous_system(2)|pancreas(1)	7	Broad	thrombospondin, type I, domain containing 7B			138033556		0.398	ENSG00000144229	15635	g.chr2:138033556G>A										9.594574	KEEP	11	0	-1	35	19	11	0	-1	16.086999	35	19	0.137255	1	0	0	0	0	0	0	1	0	--	--		0	A			THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Silent_p.T679T	147	GBM-14-1823-TP	p.T789T	G	AGGGAATAACGGGCAGCAGTG	NM_001080427	NP_001073896	138033556			0		BRCA - Breast invasive adenocarcinoma(221;0.19)	11	2367	+	A	A			Silent							
THSD7B	0	broad.mit.edu	GRCh37	2	137988713	137988713	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs61741154		TCGA-14-1825-01	TCGA-14-1825-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000272643.3:c.1823C>T	p.Thr608Met	p.T608M	ENST00000272643		608	aCg/aTg	0	T:0		1			T	T/M	uc002tva.1	protein_coding	YES				1823/4830									ovary(4)|central_nervous_system(2)|pancreas(1)	7	c.(1729-1731)ACG>ATG			Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF7,Low_complexity_(Seg):seg,SMART_domains:SM00209,Superfamily_domains:SSF82895	thrombospondin, type I, domain containing 7B			T:0.0004	ENSP00000272643		28-Jul	0.00038	0.000206	0.000354		0.000608	0.000544			rs61741154,COSM247827,COSM3390946	28-Jul	common_variant		ENST00000272643	Transcript						ENSG00000144229	g.chr2:137988713C>T	29348			MODERATE		2.645	medium	getma.org/?cm=msa&ty=f&p=THS7B_HUMAN&rb=605&re=660&var=T608M	NA	getma.org/?cm=var&var=hg19,2,137988713,C,T&fts=all	T608M	--	--	1																																		THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.T467M	0,1,1	1		possibly_damaging(0.851)	p.T577M	NM_001080427	NP_001073896		deleterious(0.01)	0,1,1	THS7B_HUMAN	THSD7B	HGNC				BRCA - Breast invasive adenocarcinoma(221;0.19)			7	1730	+			UPI00015E0A18						SNV	THSD7B,missense_variant,p.Thr608Met,ENST00000409968,;THSD7B,missense_variant,p.Thr608Met,ENST00000272643,;THSD7B,missense_variant,p.Thr577Met,ENST00000413152,NM_001080427.1;THSD7B,intron_variant,,ENST00000543459,;	uc002tva.1	c.1730C>T	1823/5942	2	2			c.1730C>T						2	SNP	c.(1729-1731)ACG>ATG	28	28			ovary(4)|central_nervous_system(2)|pancreas(1)	7	Broad	thrombospondin, type I, domain containing 7B			137988713		0.517	ENSG00000144229	15635	g.chr2:137988713C>T										77.672778	KEEP	19	9	-1	15	16	19	9	-1	77.771128	15	16	0.454545	1	0	0	0	0	1	0	0	0	--	--		0	T			THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.T467M	148	GBM-14-1825-TP	p.T577M	C	AGCGAGTGGACGGAGTGGTCA	NM_001080427	NP_001073896	137988713			0		BRCA - Breast invasive adenocarcinoma(221;0.19)	7	1730	+	T	T			Missense_Mutation							
THSD7B	0	broad.mit.edu	GRCh37	2	138420998	138420998	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-1390-01	TCGA-19-1390-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000272643.3:c.4513T>C	p.Ser1505Pro	p.S1505P	ENST00000272643		1505	Tca/Cca	0			1			C	S/P	uc002tva.1	protein_coding	YES				4513/4830									ovary(4)|central_nervous_system(2)|pancreas(1)	7	c.(4417-4419)TCA>CCA			hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF7	thrombospondin, type I, domain containing 7B				ENSP00000272643		26/28									COSM3406905,COSM3406906	26/28	.		ENST00000272643	Transcript						ENSG00000144229	g.chr2:138420998T>C	29348			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=THS7B_HUMAN&rb=1433&re=1608&var=S1504P	NA	getma.org/?cm=var&var=hg19,2,138420998,T,C&fts=all	S1504P	--	--	1																																		THSD7B_uc010zbj.1_RNA	1,1	1		unknown(0)	p.S1473P	NM_001080427	NP_001073896		tolerated(0.13)	1,1	THS7B_HUMAN	THSD7B	HGNC				BRCA - Breast invasive adenocarcinoma(221;0.19)			25	4417	+			UPI00015E0A18						SNV	THSD7B,missense_variant,p.Ser1502Pro,ENST00000409968,;THSD7B,missense_variant,p.Ser1505Pro,ENST00000272643,;THSD7B,missense_variant,p.Ser1474Pro,ENST00000413152,NM_001080427.1;THSD7B,downstream_gene_variant,,ENST00000543459,;	uc002tva.1	c.4417T>C	4513/5942	4	4			c.4417T>C						2	SNP	c.(4417-4419)TCA>CCA	47	47			ovary(4)|central_nervous_system(2)|pancreas(1)	7	Broad	thrombospondin, type I, domain containing 7B			138420998		0.383	ENSG00000144229	15635	g.chr2:138420998T>C										5.544394	KEEP	2	0	-1	4	5	2	0	-1	6.381204	4	5	0.2	1	0	0	0	0	1	0	0	0	--	--		0	C			THSD7B_uc010zbj.1_RNA	159	GBM-19-1390-TP	p.S1473P	T	GATAATGAAATCAAATGGTTT	NM_001080427	NP_001073896	138420998			0		BRCA - Breast invasive adenocarcinoma(221;0.19)	25	4417	+	C	C			Missense_Mutation							
THSD7B	0	broad.mit.edu	GRCh37	2	137988734	137988734	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-32-2615-01	TCGA-32-2615-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000272643.3:c.1844A>C	p.Gln615Pro	p.Q615P	ENST00000272643		615	cAg/cCg	0			1			C	Q/P	uc002tva.1	protein_coding	YES				1844/4830									ovary(4)|central_nervous_system(2)|pancreas(1)	7	c.(1750-1752)CAG>CCG			Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF7,Low_complexity_(Seg):seg,SMART_domains:SM00209,Superfamily_domains:SSF82895	thrombospondin, type I, domain containing 7B				ENSP00000272643		28-Jul									COSM3406901,COSM3406902	28-Jul	.		ENST00000272643	Transcript						ENSG00000144229	g.chr2:137988734A>C	29348			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=THS7B_HUMAN&rb=605&re=660&var=Q615P	NA	getma.org/?cm=var&var=hg19,2,137988734,A,C&fts=all	Q615P	--	--	1																																		THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.Q474P	1,1	1		possibly_damaging(0.506)	p.Q584P	NM_001080427	NP_001073896		deleterious(0.05)	1,1	THS7B_HUMAN	THSD7B	HGNC				BRCA - Breast invasive adenocarcinoma(221;0.19)			7	1751	+			UPI00015E0A18						SNV	THSD7B,missense_variant,p.Gln615Pro,ENST00000409968,;THSD7B,missense_variant,p.Gln615Pro,ENST00000272643,;THSD7B,missense_variant,p.Gln584Pro,ENST00000413152,NM_001080427.1;THSD7B,intron_variant,,ENST00000543459,;	uc002tva.1	c.1751A>C	1844/5942	3	3			c.1751A>C						2	SNP	c.(1750-1752)CAG>CCG	4	4			ovary(4)|central_nervous_system(2)|pancreas(1)	7	Broad	thrombospondin, type I, domain containing 7B			137988734		0.507	ENSG00000144229	15635	g.chr2:137988734A>C										45.690767	KEEP	6	10	-1	18	3	6	10	-1	45.838621	18	3	0.432432	1	0	0	0	0	1	0	0	0	--	--		0	C			THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.Q474P	239	GBM-32-2615-TP	p.Q584P	A	TCCTGTTCCCAGTCCTGTTCA	NM_001080427	NP_001073896	137988734			0		BRCA - Breast invasive adenocarcinoma(221;0.19)	7	1751	+	C	C			Missense_Mutation							
THSD7B	0	broad.mit.edu	GRCh37	2	137814764	137814764	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01	TCGA-32-2634-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000272643.3:c.914C>T	p.Ser305Leu	p.S305L	ENST00000272643		305	tCg/tTg	0			1			T	S/L	uc002tva.1	protein_coding	YES				914/4830									ovary(4)|central_nervous_system(2)|pancreas(1)	7	c.(820-822)TCG>TTG			hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF7	thrombospondin, type I, domain containing 7B				ENSP00000272643		28-Feb									COSM1399608,COSM1399609	28-Feb	.		ENST00000272643	Transcript						ENSG00000144229	g.chr2:137814764C>T	29348			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=THS7B_HUMAN&rb=233&re=339&var=S305L	NA	getma.org/?cm=var&var=hg19,2,137814764,C,T&fts=all	S305L	--	--	1																																		THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.S164L	1,1	1		probably_damaging(0.964)	p.S274L	NM_001080427	NP_001073896		tolerated(0.66)	1,1	THS7B_HUMAN	THSD7B	HGNC				BRCA - Breast invasive adenocarcinoma(221;0.19)			2	821	+			UPI00015E0A18						SNV	THSD7B,missense_variant,p.Ser305Leu,ENST00000409968,;THSD7B,missense_variant,p.Ser305Leu,ENST00000272643,;THSD7B,missense_variant,p.Ser274Leu,ENST00000413152,NM_001080427.1;THSD7B,missense_variant,p.Ser164Leu,ENST00000543459,;THSD7B,downstream_gene_variant,,ENST00000472720,;	uc002tva.1	c.821C>T	914/5942	2	2			c.821C>T						2	SNP	c.(820-822)TCG>TTG	30	30			ovary(4)|central_nervous_system(2)|pancreas(1)	7	Broad	thrombospondin, type I, domain containing 7B			137814764		0.363	ENSG00000144229	15635	g.chr2:137814764C>T										93.273506	KEEP	20	12	-1	13	21	20	12	-1	93.287939	13	21	0.483333	1	0	0	0	0	1	0	0	0	--	--		0	T			THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.S164L	241	GBM-32-2634-TP	p.S274L	C	CGGCAGGTTTCGTGTACAAGA	NM_001080427	NP_001073896	137814764			0		BRCA - Breast invasive adenocarcinoma(221;0.19)	2	821	+	T	T			Missense_Mutation							
THSD7B	0	broad.mit.edu	GRCh37	2	138421119	138421119	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-41-2575-01	TCGA-41-2575-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000272643.3:c.4634G>T	p.Gly1545Val	p.G1545V	ENST00000272643		1545	gGa/gTa	0			1			T	G/V	uc002tva.1	protein_coding	YES				4634/4830									ovary(4)|central_nervous_system(2)|pancreas(1)	7	c.(4537-4539)GGA>GTA			hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF7	thrombospondin, type I, domain containing 7B				ENSP00000272643		26/28									COSM3406907,COSM3406908	26/28	.		ENST00000272643	Transcript						ENSG00000144229	g.chr2:138421119G>T	29348			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=THS7B_HUMAN&rb=1433&re=1608&var=G1544V	NA	getma.org/?cm=var&var=hg19,2,138421119,G,T&fts=all	G1544V	--	--	1																																		THSD7B_uc010zbj.1_RNA	1,1	1		unknown(0)	p.G1513V	NM_001080427	NP_001073896		deleterious(0.01)	1,1	THS7B_HUMAN	THSD7B	HGNC				BRCA - Breast invasive adenocarcinoma(221;0.19)			25	4538	+			UPI00015E0A18						SNV	THSD7B,missense_variant,p.Gly1542Val,ENST00000409968,;THSD7B,missense_variant,p.Gly1545Val,ENST00000272643,;THSD7B,missense_variant,p.Gly1514Val,ENST00000413152,NM_001080427.1;THSD7B,downstream_gene_variant,,ENST00000543459,;	uc002tva.1	c.4538G>T	4634/5942	2	2			c.4538G>T						2	SNP	c.(4537-4539)GGA>GTA	33	33			ovary(4)|central_nervous_system(2)|pancreas(1)	7	Broad	thrombospondin, type I, domain containing 7B			138421119		0.368	ENSG00000144229	15635	g.chr2:138421119G>T										23.997959	KEEP	7	3	0.7	3	7	7	3	0.7	24.010827	3	7	0.470588	1	0	0	0	0	1	0	0	0	--	--		0	T			THSD7B_uc010zbj.1_RNA	253	GBM-41-2575-TP	p.G1513V	G	ATTTTTAAAGGATGGTCTCTT	NM_001080427	NP_001073896	138421119			0		BRCA - Breast invasive adenocarcinoma(221;0.19)	25	4538	+	T	T			Missense_Mutation							
THSD7B	80731		GRCh37	2	138373761	138373761	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000272643.3:c.3449C>T	p.Thr1150Ile	p.T1150I	ENST00000272643		1150	aCa/aTa	0																																																																																																																																																																																																																																												
TIA1	0	broad.mit.edu	GRCh37	2	70457951	70457951	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-32-4213-01	TCGA-32-4213-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000433529.2:c.159delT	p.His54MetfsTer10	p.H54Mfs*10	ENST00000433529	NM_022173.2	53	ttT/tt	0			1			-	F/X	uc002sgj.3	protein_coding	YES	CCDS1901.1			159/1161										0	c.(157-159)TTTfs			PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF271,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00361,SMART_domains:SM00360,Superfamily_domains:SSF54928	TIA1 cytotoxic granule-associated RNA binding				ENSP00000401371		13-Mar										13-Mar	.		ENST00000433529	Transcript	1		apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding	ENSG00000116001	g.chr2:70457951delA	11802			HIGH								--	--	1																																		TIA1_uc002sgk.3_Frame_Shift_Del_p.F53fs|TIA1_uc002sgl.3_RNA|TIA1_uc002sgm.3_Frame_Shift_Del_p.F53fs|TIA1_uc010yqt.1_Frame_Shift_Del_p.F53fs		1			p.F53fs	NM_022173	NP_071505				TIA1_HUMAN	TIA1	HGNC	P31483	TIA1_HUMAN			F8WE16_HUMAN		3	376	-			UPI0000410EF5	53			RRM 1.		deletion	TIA1,frameshift_variant,p.His54MetfsTer10,ENST00000433529,NM_022173.2;TIA1,frameshift_variant,p.His54MetfsTer10,ENST00000415783,NM_022037.2;TIA1,frameshift_variant,p.His54MetfsTer10,ENST00000282574,;TIA1,frameshift_variant,p.His54MetfsTer10,ENST00000445587,;TIA1,frameshift_variant,p.His54MetfsTer10,ENST00000416149,;TIA1,frameshift_variant,p.His46MetfsTer10,ENST00000361692,;TIA1,upstream_gene_variant,,ENST00000454815,;C2orf42,intron_variant,,ENST00000470096,;TIA1,frameshift_variant,p.His54MetfsTer10,ENST00000474809,;TIA1,frameshift_variant,p.His54MetfsTer10,ENST00000477044,;TIA1,non_coding_transcript_exon_variant,,ENST00000496452,;TIA1,non_coding_transcript_exon_variant,,ENST00000481650,;TIA1,upstream_gene_variant,,ENST00000496096,;TIA1,upstream_gene_variant,,ENST00000477415,;	uc002sgj.3	c.159delT	370/4647	5	5			c.159delT						2	DEL	c.(157-159)TTTfs	41	41				0	Broad	TIA1 cytotoxic granule-associated RNA binding			70457951		0.398	ENSG00000116001	15642	g.chr2:70457951delA	apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding																				0.32	1	1	0	1	0	0	0	0	0	--	--		0	-			TIA1_uc002sgk.3_Frame_Shift_Del_p.F53fs|TIA1_uc002sgl.3_RNA|TIA1_uc002sgm.3_Frame_Shift_Del_p.F53fs|TIA1_uc010yqt.1_Frame_Shift_Del_p.F53fs	247	GBM-32-4213-TP	p.F53fs	A	GATGCTCATGAAACTCCACAA	NM_022173	NP_071505	70457951	P31483	TIA1_HUMAN	0			3	376	-	-	-			Frame_Shift_Del	53			RRM 1.			
TIAL1	0	broad.mit.edu	GRCh37	10	121341480	121341480	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-14-0787-01	TCGA-14-0787-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000436547.2:c.325delA	p.Thr109GlnfsTer20	p.T109Qfs*20	ENST00000436547	NM_003252.3	109	Aca/ca	0			1			-	T/X	uc001lei.1	protein_coding		CCDS7613.1			325/1128									ovary(1)	1	c.(325-327)ACAfs			PROSITE_profiles:PS50102,hmmpanther:PTHR24012:SF250,hmmpanther:PTHR24012,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,SMART_domains:SM00361,Superfamily_domains:SSF54928	TIA-1 related protein isoform 1				ENSP00000394902		12-May										12-May	.		ENST00000436547	Transcript			apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding	ENSG00000151923	g.chr10:121341480delT	11804			HIGH								--	--	1																																		TIAL1_uc001leh.1_Frame_Shift_Del_p.T87fs|TIAL1_uc001lej.1_Frame_Shift_Del_p.T126fs|TIAL1_uc001lek.1_5'UTR|TIAL1_uc009xzi.1_5'UTR|TIAL1_uc010qtb.1_5'UTR					p.T109fs	NM_003252	NP_003243				TIAR_HUMAN	TIAL1	HGNC	Q01085	TIAR_HUMAN		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)	Q2TSD2_HUMAN,E7ETJ9_HUMAN,A6NKZ9_HUMAN		5	889	-		Lung NSC(174;0.094)|all_lung(145;0.123)	UPI0000136F4F	109			RRM 2.		deletion	TIAL1,frameshift_variant,p.Thr126GlnfsTer20,ENST00000369093,NM_001033925.1;TIAL1,frameshift_variant,p.Thr109GlnfsTer20,ENST00000436547,NM_003252.3;TIAL1,frameshift_variant,p.Thr70GlnfsTer20,ENST00000412524,;TIAL1,frameshift_variant,p.Thr70GlnfsTer27,ENST00000369086,;TIAL1,5_prime_UTR_variant,,ENST00000369092,;TIAL1,non_coding_transcript_exon_variant,,ENST00000470635,;TIAL1,upstream_gene_variant,,ENST00000463089,;TIAL1,upstream_gene_variant,,ENST00000495821,;TIAL1,downstream_gene_variant,,ENST00000462373,;TIAL1,frameshift_variant,p.Thr109GlnfsTer64,ENST00000497671,;TIAL1,non_coding_transcript_exon_variant,,ENST00000489822,;TIAL1,non_coding_transcript_exon_variant,,ENST00000470781,;TIAL1,upstream_gene_variant,,ENST00000369087,;	uc001lei.1	c.325delA	370/1401	5	5			c.325delA						10	DEL	c.(325-327)ACAfs	15	15			ovary(1)	1	Broad	TIA-1 related protein isoform 1			121341480		0.348	ENSG00000151923	15644	g.chr10:121341480delT	apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding																				0.83	1	1	0	1	0	0	0	0	0	--	--		0	-			TIAL1_uc001leh.1_Frame_Shift_Del_p.T87fs|TIAL1_uc001lej.1_Frame_Shift_Del_p.T126fs|TIAL1_uc001lek.1_5'UTR|TIAL1_uc009xzi.1_5'UTR|TIAL1_uc010qtb.1_5'UTR	135	GBM-14-0787-TP	p.T109fs	T	TCTTCTGTTGTAATTTCTGGA	NM_003252	NP_003243	121341480	Q01085	TIAR_HUMAN	0		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)	5	889	-	-	-		Lung NSC(174;0.094)|all_lung(145;0.123)	Frame_Shift_Del	109			RRM 2.			
TIAM1	7074	broad.mit.edu	GRCh37	21	32639088	32639088	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-06-5411-01	TCGA-06-5411-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286827.3:c.201C>G	p.Ser67=	p.S67=	ENST00000286827	NM_003253.2	67	tcC/tcG	0			1			C	S	uc002yow.1	protein_coding	YES	CCDS13609.1			201/4776									lung(3)|breast(3)|ovary(2)|large_intestine(2)	10	c.(199-201)TCC>TCG			hmmpanther:PTHR22826:SF88,hmmpanther:PTHR22826,Low_complexity_(Seg):seg	T-cell lymphoma invasion and metastasis 1				ENSP00000286827		29-May									COSM3405352,COSM3405353	29-May	.		ENST00000286827	Transcript			apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	ENSG00000156299	g.chr21:32639088G>C	11805			LOW								--	--	1																																		TIAM1_uc011adk.1_Silent_p.S67S|TIAM1_uc011adl.1_Silent_p.S67S|TIAM1_uc002yox.1_Intron	1,1	1			p.S67S	NM_003253	NP_003244			1,1	TIAM1_HUMAN	TIAM1	HGNC	Q13009	TIAM1_HUMAN			C9JMB5_HUMAN		5	673	-			UPI000013DE6F	67					SNV	TIAM1,synonymous_variant,p.=,ENST00000286827,NM_003253.2;TIAM1,synonymous_variant,p.=,ENST00000541036,;TIAM1,synonymous_variant,p.=,ENST00000455508,;TIAM1,intron_variant,,ENST00000469412,;	uc002yow.1	c.201C>G	673/7200	3	3			c.201C>G						21	SNP	c.(199-201)TCC>TCG	54	54			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10	Broad	T-cell lymphoma invasion and metastasis 1			32639088		0.617	ENSG00000156299	15645	g.chr21:32639088G>C	apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			780			780	-13.742805	KEEP	5	0	-1	54	52	5	0	-1	8.457875	54	52	0.040816	1	0	0	0	0	0	0	1	0	--	--		0	C			TIAM1_uc011adk.1_Silent_p.S67S|TIAM1_uc011adl.1_Silent_p.S67S|TIAM1_uc002yox.1_Intron	94	GBM-06-5411-TP	p.S67S	G	TTTCAGCCAGGGACTGGGGGA	NM_003253	NP_003244	32639088	Q13009	TIAM1_HUMAN	0			5	673	-	C	C			Silent	67						
TIAM1	0	broad.mit.edu	GRCh37	21	32638854	32638854	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-14-1450-01	TCGA-14-1450-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286827.3:c.435A>G	p.Gly145=	p.G145=	ENST00000286827	NM_003253.2	145	ggA/ggG	0			1			C	G	uc002yow.1	protein_coding	YES	CCDS13609.1			435/4776									lung(3)|breast(3)|ovary(2)|large_intestine(2)	10	c.(433-435)GGA>GGG			hmmpanther:PTHR22826:SF88,hmmpanther:PTHR22826	T-cell lymphoma invasion and metastasis 1				ENSP00000286827		29-May									COSM3405350,COSM3405351	29-May	.		ENST00000286827	Transcript			apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	ENSG00000156299	g.chr21:32638854T>C	11805			LOW								--	--	1																																		TIAM1_uc011adk.1_Silent_p.G145G|TIAM1_uc011adl.1_Silent_p.G145G|TIAM1_uc002yox.1_Intron	1,1	1			p.G145G	NM_003253	NP_003244			1,1	TIAM1_HUMAN	TIAM1	HGNC	Q13009	TIAM1_HUMAN			C9JMB5_HUMAN		5	907	-			UPI000013DE6F	145					SNV	TIAM1,synonymous_variant,p.=,ENST00000286827,NM_003253.2;TIAM1,synonymous_variant,p.=,ENST00000541036,;TIAM1,synonymous_variant,p.=,ENST00000455508,;TIAM1,intron_variant,,ENST00000469412,;	uc002yow.1	c.435A>G	907/7200	3	3			c.435A>G						21	SNP	c.(433-435)GGA>GGG	10	10			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10	Broad	T-cell lymphoma invasion and metastasis 1			32638854		0.547	ENSG00000156299	15645	g.chr21:32638854T>C	apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			780			780	-28.584604	KEEP	1	2	-1	73	77	1	2	-1	6.368094	73	77	0.021898	1	0	0	0	0	0	0	1	0	--	--		0	C			TIAM1_uc011adk.1_Silent_p.G145G|TIAM1_uc011adl.1_Silent_p.G145G|TIAM1_uc002yox.1_Intron	145	GBM-14-1450-TP	p.G145G	T	GCCTCCTGCCTCCCTCAGCCA	NM_003253	NP_003244	32638854	Q13009	TIAM1_HUMAN	0			5	907	-	C	C			Silent	145						
TIAM2	0	broad.mit.edu	GRCh37	6	155566797	155566797	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01	TCGA-14-0790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318981.5:c.3584C>T	p.Ala1195Val	p.A1195V	ENST00000318981	NM_012454.3	1195	gCg/gTg	0			1			T	A/V	uc003qqb.2	protein_coding		CCDS34558.1			3584/5106									ovary(3)|breast(1)	4	c.(3583-3585)GCG>GTG			Superfamily_domains:SSF48065,SMART_domains:SM00325,Gene3D:1.20.900.10,Pfam_domain:PF00621,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF118,PROSITE_profiles:PS50010	T-cell lymphoma invasion and metastasis 2				ENSP00000327315		18/26									COSM1075306,COSM3410724	18/26	.		ENST00000318981	Transcript			apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	ENSG00000146426	g.chr6:155566797C>T	11806			MODERATE		1.005	low	getma.org/?cm=msa&ty=f&p=TIAM2_HUMAN&rb=1103&re=1292&var=A1195V	getma.org/pdb.php?prot=TIAM2_HUMAN&from=1103&to=1292&var=A1195V	getma.org/?cm=var&var=hg19,6,155566797,C,T&fts=all	A1195V	--	--	1																																		TIAM2_uc003qqe.2_Missense_Mutation_p.A1195V|TIAM2_uc010kjj.2_Missense_Mutation_p.A728V|TIAM2_uc003qqf.2_Missense_Mutation_p.A571V|TIAM2_uc011efl.1_Missense_Mutation_p.A531V|TIAM2_uc003qqg.2_Missense_Mutation_p.A507V|TIAM2_uc003qqh.2_Missense_Mutation_p.A120V	1,1			benign(0.359)	p.A1195V	NM_012454	NP_036586		deleterious(0)	1,1	TIAM2_HUMAN	TIAM2	HGNC	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	F5H8H5_HUMAN,F5H6W6_HUMAN,F5H6R0_HUMAN,F5H1M3_HUMAN,E9PMZ8_HUMAN		21	4857	+		Ovarian(120;0.196)	UPI00004DF8BE	1195			DH.		SNV	TIAM2,missense_variant,p.Ala1195Val,ENST00000461783,;TIAM2,missense_variant,p.Ala1195Val,ENST00000456144,;TIAM2,missense_variant,p.Ala571Val,ENST00000367174,;TIAM2,missense_variant,p.Ala1195Val,ENST00000318981,NM_012454.3;TIAM2,missense_variant,p.Ala1219Val,ENST00000360366,;TIAM2,missense_variant,p.Ala1195Val,ENST00000529824,;TIAM2,missense_variant,p.Ala1195Val,ENST00000528535,;TIAM2,missense_variant,p.Ala531Val,ENST00000528391,;TIAM2,missense_variant,p.Ala507Val,ENST00000456877,;TIAM2,missense_variant,p.Ala120Val,ENST00000275246,NM_001010927.2;TIAM2,missense_variant,p.Ala133Val,ENST00000462408,;TIAM2,downstream_gene_variant,,ENST00000543712,;TIAM2,downstream_gene_variant,,ENST00000546145,;	uc003qqb.2	c.3584C>T	3792/5916	2	2			c.3584C>T						6	SNP	c.(3583-3585)GCG>GTG	18	18			ovary(3)|breast(1)	4	Broad	T-cell lymphoma invasion and metastasis 2			155566797		0.403	ENSG00000146426	15646	g.chr6:155566797C>T	apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity							484.9665	KEEP	94	95	-1	169	198	94	95	-1	494.553358	169	198	0.35102	1	0	0	0	0	1	0	0	0	--	--		0	T			TIAM2_uc003qqe.2_Missense_Mutation_p.A1195V|TIAM2_uc010kjj.2_Missense_Mutation_p.A728V|TIAM2_uc003qqf.2_Missense_Mutation_p.A571V|TIAM2_uc011efl.1_Missense_Mutation_p.A531V|TIAM2_uc003qqg.2_Missense_Mutation_p.A507V|TIAM2_uc003qqh.2_Missense_Mutation_p.A120V	137	GBM-14-0790-TP	p.A1195V	C	CTTTATTACGCGGACCACTTT	NM_012454	NP_036586	155566797	Q8IVF5	TIAM2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	21	4857	+	T	T		Ovarian(120;0.196)	Missense_Mutation	1195			DH.			
TIAM2	0	broad.mit.edu	GRCh37	6	155451173	155451173	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318981.5:c.816G>T	p.Met272Ile	p.M272I	ENST00000318981	NM_012454.3	272	atG/atT	0			1			T	M/I	uc003qqb.2	protein_coding		CCDS34558.1			816/5106									ovary(3)|breast(1)	4	c.(814-816)ATG>ATT			hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF118	T-cell lymphoma invasion and metastasis 2				ENSP00000327315		26-Mar									COSM3748322	26-Mar	.		ENST00000318981	Transcript			apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	ENSG00000146426	g.chr6:155451173G>T	11806			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=TIAM2_HUMAN&rb=1&re=503&var=M272I	NA	getma.org/?cm=var&var=hg19,6,155451173,G,T&fts=all	M272I	--	--	1																																		TIAM2_uc003qqe.2_Missense_Mutation_p.M272I	1			benign(0.001)	p.M272I	NM_012454	NP_036586		tolerated(0.12)	1	TIAM2_HUMAN	TIAM2	HGNC	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	F5H8H5_HUMAN,F5H6W6_HUMAN,F5H6R0_HUMAN,F5H1M3_HUMAN,E9PMZ8_HUMAN		6	2089	+		Ovarian(120;0.196)	UPI00004DF8BE	272					SNV	TIAM2,missense_variant,p.Met272Ile,ENST00000461783,;TIAM2,missense_variant,p.Met272Ile,ENST00000456144,;TIAM2,missense_variant,p.Met272Ile,ENST00000318981,NM_012454.3;TIAM2,missense_variant,p.Met272Ile,ENST00000360366,;TIAM2,missense_variant,p.Met272Ile,ENST00000529824,;TIAM2,missense_variant,p.Met272Ile,ENST00000528535,;TIAM2,5_prime_UTR_variant,,ENST00000367174,;TIAM2,downstream_gene_variant,,ENST00000535583,;TIAM2,downstream_gene_variant,,ENST00000538270,;TIAM2,downstream_gene_variant,,ENST00000535231,;TIAM2,downstream_gene_variant,,ENST00000545347,;	uc003qqb.2	c.816G>T	1024/5916	2	2			c.816G>T						6	SNP	c.(814-816)ATG>ATT	28	28			ovary(3)|breast(1)	4	Broad	T-cell lymphoma invasion and metastasis 2			155451173		0.597	ENSG00000146426	15646	g.chr6:155451173G>T	apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity							-13.682688	KEEP	2	2	0.5	51	57	2	2	0.5	6.874188	51	57	0.043478	1	0	0	0	0	1	0	0	0	--	--		0	T			TIAM2_uc003qqe.2_Missense_Mutation_p.M272I	160	GBM-19-1790-TP	p.M272I	G	CCCCCGGCATGCCTGACCCCA	NM_012454	NP_036586	155451173	Q8IVF5	TIAM2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	6	2089	+	T	T		Ovarian(120;0.196)	Missense_Mutation	272						
TIAM2	0	broad.mit.edu	GRCh37	6	155504465	155504465	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-26-5135-01	TCGA-26-5135-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318981.5:c.2895C>G	p.Ser965Arg	p.S965R	ENST00000318981	NM_012454.3	965	agC/agG	0			1			G	S/R	uc003qqb.2	protein_coding		CCDS34558.1			2895/5106									ovary(3)|breast(1)	4	c.(2893-2895)AGC>AGG			Superfamily_domains:SSF50156,SMART_domains:SM00228,Gene3D:2.30.42.10,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF118,PROSITE_profiles:PS50106	T-cell lymphoma invasion and metastasis 2				ENSP00000327315		13/26									COSM2157087,COSM3410723	13/26	.		ENST00000318981	Transcript			apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	ENSG00000146426	g.chr6:155504465C>G	11806			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=TIAM2_HUMAN&rb=890&re=972&var=S965R	getma.org/pdb.php?prot=TIAM2_HUMAN&from=890&to=972&var=S965R	getma.org/?cm=var&var=hg19,6,155504465,C,G&fts=all	S965R	--	--	1																																		TIAM2_uc003qqe.2_Missense_Mutation_p.S965R|TIAM2_uc010kjj.2_Missense_Mutation_p.S498R|TIAM2_uc003qqf.2_Missense_Mutation_p.S341R|TIAM2_uc011efl.1_Missense_Mutation_p.S301R|TIAM2_uc003qqg.2_Missense_Mutation_p.S277R	1,1			benign(0.188)	p.S965R	NM_012454	NP_036586		deleterious(0.02)	1,1	TIAM2_HUMAN	TIAM2	HGNC	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	F5H8H5_HUMAN,F5H6W6_HUMAN,F5H6R0_HUMAN,F5H1M3_HUMAN,E9PMZ8_HUMAN		16	4168	+		Ovarian(120;0.196)	UPI00004DF8BE	965			PDZ.		SNV	TIAM2,missense_variant,p.Ser965Arg,ENST00000461783,;TIAM2,missense_variant,p.Ser965Arg,ENST00000456144,;TIAM2,missense_variant,p.Ser341Arg,ENST00000367174,;TIAM2,missense_variant,p.Ser965Arg,ENST00000318981,NM_012454.3;TIAM2,missense_variant,p.Ser989Arg,ENST00000360366,;TIAM2,missense_variant,p.Ser965Arg,ENST00000529824,;TIAM2,missense_variant,p.Ser965Arg,ENST00000528535,;TIAM2,missense_variant,p.Ser301Arg,ENST00000528391,;TIAM2,missense_variant,p.Ser277Arg,ENST00000456877,;TIAM2,missense_variant,p.Ser6Arg,ENST00000543712,;	uc003qqb.2	c.2895C>G	3103/5916	3	3			c.2895C>G						6	SNP	c.(2893-2895)AGC>AGG	64	64			ovary(3)|breast(1)	4	Broad	T-cell lymphoma invasion and metastasis 2			155504465		0.527	ENSG00000146426	15646	g.chr6:155504465C>G	apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity							158.358617	KEEP	17	35	-1	51	53	17	35	-1	162.277716	51	53	0.326531	1	0	0	0	0	1	0	0	0	--	--		0	G			TIAM2_uc003qqe.2_Missense_Mutation_p.S965R|TIAM2_uc010kjj.2_Missense_Mutation_p.S498R|TIAM2_uc003qqf.2_Missense_Mutation_p.S341R|TIAM2_uc011efl.1_Missense_Mutation_p.S301R|TIAM2_uc003qqg.2_Missense_Mutation_p.S277R	184	GBM-26-5135-TP	p.S965R	C	CTGAGAAGAGCGTCGGACTCA	NM_012454	NP_036586	155504465	Q8IVF5	TIAM2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	16	4168	+	G	G		Ovarian(120;0.196)	Missense_Mutation	965			PDZ.			
TIAM2	0	broad.mit.edu	GRCh37	6	155498003	155498003	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-2494-01	TCGA-32-2494-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318981.5:c.2415C>A	p.Asp805Glu	p.D805E	ENST00000318981	NM_012454.3	805	gaC/gaA	0			1			A	D/E	uc003qqb.2	protein_coding		CCDS34558.1			2415/5106									ovary(3)|breast(1)	4	c.(2413-2415)GAC>GAA			hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF118	T-cell lymphoma invasion and metastasis 2				ENSP00000327315		26-Sep									COSM3410721,COSM3410722	26-Sep	.		ENST00000318981	Transcript			apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	ENSG00000146426	g.chr6:155498003C>A	11806			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=TIAM2_HUMAN&rb=621&re=820&var=D805E	NA	getma.org/?cm=var&var=hg19,6,155498003,C,A&fts=all	D805E	--	--	1																																		TIAM2_uc003qqe.2_Missense_Mutation_p.D805E|TIAM2_uc010kjj.2_Missense_Mutation_p.D338E|TIAM2_uc003qqf.2_Missense_Mutation_p.D181E|TIAM2_uc011efl.1_Missense_Mutation_p.D141E|TIAM2_uc003qqg.2_Missense_Mutation_p.D117E	1,1			benign(0.002)	p.D805E	NM_012454	NP_036586		tolerated(0.48)	1,1	TIAM2_HUMAN	TIAM2	HGNC	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	F5H8H5_HUMAN,F5H6W6_HUMAN,F5H6R0_HUMAN,F5H1M3_HUMAN,E9PMZ8_HUMAN		12	3688	+		Ovarian(120;0.196)	UPI00004DF8BE	805					SNV	TIAM2,missense_variant,p.Asp805Glu,ENST00000461783,;TIAM2,missense_variant,p.Asp805Glu,ENST00000456144,;TIAM2,missense_variant,p.Asp181Glu,ENST00000367174,;TIAM2,missense_variant,p.Asp805Glu,ENST00000318981,NM_012454.3;TIAM2,missense_variant,p.Asp829Glu,ENST00000360366,;TIAM2,missense_variant,p.Asp805Glu,ENST00000529824,;TIAM2,missense_variant,p.Asp805Glu,ENST00000528535,;TIAM2,missense_variant,p.Asp141Glu,ENST00000528391,;TIAM2,missense_variant,p.Asp117Glu,ENST00000456877,;	uc003qqb.2	c.2415C>A	2623/5916	1	1			c.2415C>A						6	SNP	c.(2413-2415)GAC>GAA	62	62			ovary(3)|breast(1)	4	Broad	T-cell lymphoma invasion and metastasis 2			155498003		0.408	ENSG00000146426	15646	g.chr6:155498003C>A	apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity							-43.393188	KEEP	5	4	0.444444444	130	130	5	4	0.444444444	12.534981	130	130	0.030303	1	0	0	0	0	1	0	0	0	--	--		0	A			TIAM2_uc003qqe.2_Missense_Mutation_p.D805E|TIAM2_uc010kjj.2_Missense_Mutation_p.D338E|TIAM2_uc003qqf.2_Missense_Mutation_p.D181E|TIAM2_uc011efl.1_Missense_Mutation_p.D141E|TIAM2_uc003qqg.2_Missense_Mutation_p.D117E	236	GBM-32-2494-TP	p.D805E	C	TTCCCCGAGACAATGCATGGG	NM_012454	NP_036586	155498003	Q8IVF5	TIAM2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	12	3688	+	A	A		Ovarian(120;0.196)	Missense_Mutation	805						
TICAM1	0	broad.mit.edu	GRCh37	19	4817811	4817811	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5955-01	TCGA-19-5955-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000248244.5:c.579C>T	p.Ser193=	p.S193=	ENST00000248244	NM_182919.3	193	tcC/tcT	0			1			A	S	uc002mbi.2	protein_coding	YES	CCDS12136.1			579/2139									breast(1)	1	c.(577-579)TCC>TCT			PIRSF_domain:PIRSF037744	toll-like receptor adaptor molecule 1				ENSP00000248244		2-Feb									COSM3404422	2-Feb	.		ENST00000248244	Transcript	1		apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity	ENSG00000127666	g.chr19:4817811G>A	18348			LOW								--	--	1																																			1	1			p.S193S	NM_182919	NP_891549			1	TCAM1_HUMAN	TICAM1	HGNC	Q8IUC6	TCAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)			2	830	-			UPI000000D72E	193					SNV	TICAM1,synonymous_variant,p.=,ENST00000248244,NM_182919.3;	uc002mbi.2	c.579C>T	809/2676	2	2			c.579C>T						19	SNP	c.(577-579)TCC>TCT	45	45			breast(1)	1	Broad	toll-like receptor adaptor molecule 1			4817811		0.652	ENSG00000127666	15647	g.chr19:4817811G>A	apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity							17.653171	KEEP	7	8	-1	53	57	7	8	-1	33.09087	53	57	0.125	1	0	0	0	0	0	0	1	0	--	--		0	A				175	GBM-19-5955-TP	p.S193S	G	TGGATCGCAGGGAGCACCCTT	NM_182919	NP_891549	4817811	Q8IUC6	TCAM1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	2	830	-	A	A			Silent	193						
TICRR	90381	broad.mit.edu	GRCh37	15	90168464	90168464	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5859-01	TCGA-06-5859-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268138.7:c.4923C>T	p.Thr1641=	p.T1641=	ENST00000268138		1641	acC/acT	0			1			T	T	uc002boe.2	protein_coding	YES	CCDS10352.2			4923/5733									ovary(4)|central_nervous_system(2)|skin(1)	7	c.(4921-4923)ACC>ACT			hmmpanther:PTHR21556	leucine-rich repeat kinase 1				ENSP00000268138		20/22									COSM2153403	20/22	.		ENST00000268138	Transcript			cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	ENSG00000140534	g.chr15:90168464C>T	28704			LOW								--	--	1																																		C15orf42_uc010upv.1_RNA	1	1			p.T1641T	NM_152259	NP_689472			1	TICRR_HUMAN	TICRR	HGNC	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)				20	4923	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		UPI0000D61399	1641					SNV	TICRR,synonymous_variant,p.=,ENST00000268138,;TICRR,synonymous_variant,p.=,ENST00000560985,NM_152259.3;KIF7,downstream_gene_variant,,ENST00000394412,NM_198525.2;KIF7,intron_variant,,ENST00000558928,;TICRR,upstream_gene_variant,,ENST00000561095,;	uc002boe.2	c.4923C>T	5028/6771	1	1			c.4923C>T						15	SNP	c.(4921-4923)ACC>ACT	1	1			ovary(4)|central_nervous_system(2)|skin(1)	7	Broad	leucine-rich repeat kinase 1			90168464		0.612	ENSG00000140534	1758	g.chr15:90168464C>T	cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding							111.963789	KEEP	14	24	-1	27	34	14	24	-1	112.700959	27	34	0.402299	1	0	0	0	0	0	0	1	0	--	--		0	T			C15orf42_uc010upv.1_RNA	103	GBM-06-5859-TP	p.T1641T	C	GGGGGCAAACCTACATCTGCC	NM_152259	NP_689472	90168464	Q7Z2Z1	TICRR_HUMAN	0	BRCA - Breast invasive adenocarcinoma(143;0.128)		20	4923	+	T	T	Lung NSC(78;0.0237)|all_lung(78;0.0478)		Silent	1641						
TICRR	0	broad.mit.edu	GRCh37	15	90142688	90142688	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-87-5896-01	TCGA-87-5896-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268138.7:c.2034A>G	p.Lys678=	p.K678=	ENST00000268138		678	aaA/aaG	0			1			G	K	uc002boe.2	protein_coding	YES	CCDS10352.2			2034/5733									ovary(4)|central_nervous_system(2)|skin(1)	7	c.(2032-2034)AAA>AAG			Pfam_domain:PF15292,hmmpanther:PTHR21556	leucine-rich repeat kinase 1				ENSP00000268138		22-Aug									COSM2015478	22-Aug	.		ENST00000268138	Transcript			cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	ENSG00000140534	g.chr15:90142688A>G	28704			LOW								--	--	1																																			1	1			p.K678K	NM_152259	NP_689472			1	TICRR_HUMAN	TICRR	HGNC	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)				8	2034	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		UPI0000D61399	678					SNV	TICRR,synonymous_variant,p.=,ENST00000268138,;TICRR,synonymous_variant,p.=,ENST00000560985,NM_152259.3;	uc002boe.2	c.2034A>G	2139/6771	3	3			c.2034A>G						15	SNP	c.(2032-2034)AAA>AAG	16	16			ovary(4)|central_nervous_system(2)|skin(1)	7	Broad	leucine-rich repeat kinase 1			90142688		0.358	ENSG00000140534	1758	g.chr15:90142688A>G	cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding							-8.137758	KEEP	1	3	-1	39	37	1	3	-1	7.554254	39	37	0.042857	1	0	0	0	0	0	0	1	0	--	--		0	G				291	GBM-87-5896-TP	p.K678K	A	TAAAATCAAAAGGCACCAAGG	NM_152259	NP_689472	90142688	Q7Z2Z1	TICRR_HUMAN	0	BRCA - Breast invasive adenocarcinoma(143;0.128)		8	2034	+	G	G	Lung NSC(78;0.0237)|all_lung(78;0.0478)		Silent	678						
TICRR	90381		GRCh37	15	90161424	90161424	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000268138.7:c.3002C>A	p.Ser1001Tyr	p.S1001Y	ENST00000268138		1001	tCc/tAc	0																																																																																																																																																																																																																																												
TIE1	0	broad.mit.edu	GRCh37	1	43784978	43784978	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-5951-01	TCGA-19-5951-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372476.3:c.2995G>T	p.Gly999Cys	p.G999C	ENST00000372476	NM_005424.4	999	Ggc/Tgc	0			1			T	G/C	uc001ciu.2	protein_coding	YES	CCDS482.1			2995/3417									lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	c.(2995-2997)GGC>TGC			Gene3D:1.10.510.10,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF40,SMART_domains:SM00219,Superfamily_domains:SSF56112	tyrosine kinase with immunoglobulin-like and				ENSP00000361554		18/23									COSM2156611	18/23	.		ENST00000372476	Transcript			mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	ENSG00000066056	g.chr1:43784978G>T	11809			MODERATE		3.95	high	getma.org/?cm=msa&ty=f&p=TIE1_HUMAN&rb=839&re=1107&var=G999C	getma.org/pdb.php?prot=TIE1_HUMAN&from=839&to=1107&var=G999C	getma.org/?cm=var&var=hg19,1,43784978,G,T&fts=all	G999C	--	--	1																																		TIE1_uc010oke.1_Missense_Mutation_p.G954C|TIE1_uc009vwq.2_Missense_Mutation_p.G955C|TIE1_uc010okg.1_Missense_Mutation_p.G644C	1	1		probably_damaging(0.998)	p.G999C	NM_005424	NP_005415		deleterious(0)	1	TIE1_HUMAN	TIE1	HGNC	P35590	TIE1_HUMAN			Q9HBS4_HUMAN,Q6LD63_HUMAN,E9PG63_HUMAN		18	3074	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	UPI0000032E59	999			Cytoplasmic (Potential).|Protein kinase.		SNV	TIE1,missense_variant,p.Gly999Cys,ENST00000372476,NM_005424.4,NM_001253357.1;TIE1,missense_variant,p.Gly644Cys,ENST00000433781,;TIE1,non_coding_transcript_exon_variant,,ENST00000473014,;TIE1,non_coding_transcript_exon_variant,,ENST00000492599,;TIE1,downstream_gene_variant,,ENST00000461061,;TIE1,upstream_gene_variant,,ENST00000492874,;	uc001ciu.2	c.2995G>T	3074/3882	1	1			c.2995G>T						1	SNP	c.(2995-2997)GGC>TGC	14	14			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Broad	tyrosine kinase with immunoglobulin-like and			43784978		0.577	ENSG00000066056	15649	g.chr1:43784978G>T	mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			488			488	81.016004	KEEP	13	20	0.393939394	27	38	13	20	0.393939394	83.111566	27	38	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	T			TIE1_uc010oke.1_Missense_Mutation_p.G954C|TIE1_uc009vwq.2_Missense_Mutation_p.G955C|TIE1_uc010okg.1_Missense_Mutation_p.G644C	171	GBM-19-5951-TP	p.G999C	G	TGCAGACTTCGGCCTTTCTCG	NM_005424	NP_005415	43784978	P35590	TIE1_HUMAN	0			18	3074	+	T	T	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	Missense_Mutation	999			Cytoplasmic (Potential).|Protein kinase.			
TIE1	0	broad.mit.edu	GRCh37	1	43778133	43778133	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-26-1442-01	TCGA-26-1442-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372476.3:c.1788C>T	p.Asn596=	p.N596=	ENST00000372476	NM_005424.4	596	aaC/aaT	0			1			T	N	uc001ciu.2	protein_coding	YES	CCDS482.1			1788/3417									lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	c.(1786-1788)AAC>AAT			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF40,SMART_domains:SM00060,Superfamily_domains:SSF49265	tyrosine kinase with immunoglobulin-like and				ENSP00000361554		23-Dec	8.24E-06		8.76E-05						rs761797941,COSM2156896	23-Dec	.		ENST00000372476	Transcript			mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	ENSG00000066056	g.chr1:43778133C>T	11809			LOW								--	--	1																																		TIE1_uc010okd.1_Silent_p.N596N|TIE1_uc010oke.1_Silent_p.N551N|TIE1_uc009vwq.2_Silent_p.N552N|TIE1_uc010okf.1_Silent_p.N241N|TIE1_uc010okg.1_Silent_p.N241N	0,1	1			p.N596N	NM_005424	NP_005415			0,1	TIE1_HUMAN	TIE1	HGNC	P35590	TIE1_HUMAN			Q9HBS4_HUMAN,Q6LD63_HUMAN,E9PG63_HUMAN		12	1867	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	UPI0000032E59	596			Fibronectin type-III 2.|Extracellular (Potential).		SNV	TIE1,synonymous_variant,p.=,ENST00000372476,NM_005424.4,NM_001253357.1;TIE1,synonymous_variant,p.=,ENST00000433781,;TIE1,downstream_gene_variant,,ENST00000538015,;TIE1,downstream_gene_variant,,ENST00000441333,;TIE1,intron_variant,,ENST00000488437,;TIE1,upstream_gene_variant,,ENST00000473014,;TIE1,upstream_gene_variant,,ENST00000461061,;TIE1,upstream_gene_variant,,ENST00000471187,;TIE1,downstream_gene_variant,,ENST00000480269,;	uc001ciu.2	c.1788C>T	1867/3882	2	2			c.1788C>T						1	SNP	c.(1786-1788)AAC>AAT	45	45			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Broad	tyrosine kinase with immunoglobulin-like and			43778133		0.697	ENSG00000066056	15649	g.chr1:43778133C>T	mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			488			488	41.621321	KEEP	8	8	-1	13	18	8	8	-1	42.074286	13	18	0.384615	1	0	0	0	0	0	0	1	0	--	--		0	T			TIE1_uc010okd.1_Silent_p.N596N|TIE1_uc010oke.1_Silent_p.N551N|TIE1_uc009vwq.2_Silent_p.N552N|TIE1_uc010okf.1_Silent_p.N241N|TIE1_uc010okg.1_Silent_p.N241N	180	GBM-26-1442-TP	p.N596N	C	GGCGGGAGAACGTCTCATCCC	NM_005424	NP_005415	43778133	P35590	TIE1_HUMAN	0			12	1867	+	T	T	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	Silent	596			Fibronectin type-III 2.|Extracellular (Potential).			
TIE1	0	broad.mit.edu	GRCh37	1	43774798	43774798	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-76-6285-01	TCGA-76-6285-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372476.3:c.1184T>A	p.Leu395His	p.L395H	ENST00000372476	NM_005424.4	395	cTc/cAc	0			1			A	L/H	uc001ciu.2	protein_coding	YES	CCDS482.1			1184/3417									lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	c.(1183-1185)CTC>CAC			Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF40,SMART_domains:SM00409,Superfamily_domains:SSF48726	tyrosine kinase with immunoglobulin-like and				ENSP00000361554		23-Aug									COSM3400794	23-Aug	.		ENST00000372476	Transcript			mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	ENSG00000066056	g.chr1:43774798T>A	11809			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=TIE1_HUMAN&rb=353&re=443&var=L395H	getma.org/pdb.php?prot=TIE1_HUMAN&from=353&to=443&var=L395H	getma.org/?cm=var&var=hg19,1,43774798,T,A&fts=all	L395H	--	--	1																																		TIE1_uc010okd.1_Missense_Mutation_p.L395H|TIE1_uc010oke.1_Missense_Mutation_p.L350H|TIE1_uc009vwq.2_Missense_Mutation_p.L351H|TIE1_uc010okf.1_Missense_Mutation_p.L40H|TIE1_uc010okg.1_Missense_Mutation_p.L40H|TIE1_uc010okc.1_Intron	1	1		probably_damaging(0.975)	p.L395H	NM_005424	NP_005415		deleterious(0)	1	TIE1_HUMAN	TIE1	HGNC	P35590	TIE1_HUMAN			Q9HBS4_HUMAN,Q6LD63_HUMAN,E9PG63_HUMAN		8	1263	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	UPI0000032E59	395			Ig-like C2-type 2.|Extracellular (Potential).		SNV	TIE1,missense_variant,p.Leu395His,ENST00000372476,NM_005424.4,NM_001253357.1;TIE1,missense_variant,p.Leu40His,ENST00000433781,;TIE1,intron_variant,,ENST00000441333,;TIE1,downstream_gene_variant,,ENST00000538015,;TIE1,non_coding_transcript_exon_variant,,ENST00000488437,;TIE1,upstream_gene_variant,,ENST00000473014,;TIE1,upstream_gene_variant,,ENST00000461061,;TIE1,upstream_gene_variant,,ENST00000471187,;TIE1,downstream_gene_variant,,ENST00000485125,;TIE1,downstream_gene_variant,,ENST00000480269,;	uc001ciu.2	c.1184T>A	1263/3882	2	2			c.1184T>A						1	SNP	c.(1183-1185)CTC>CAC	30	30			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Broad	tyrosine kinase with immunoglobulin-like and			43774798		0.617	ENSG00000066056	15649	g.chr1:43774798T>A	mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			488			488	16.877237	KEEP	9	6	-1	19	17	9	6	-1	19.437328	19	17	0.222222	1	0	0	0	0	1	0	0	0	--	--		0	A			TIE1_uc010okd.1_Missense_Mutation_p.L395H|TIE1_uc010oke.1_Missense_Mutation_p.L350H|TIE1_uc009vwq.2_Missense_Mutation_p.L351H|TIE1_uc010okf.1_Missense_Mutation_p.L40H|TIE1_uc010okg.1_Missense_Mutation_p.L40H|TIE1_uc010okc.1_Intron	280	GBM-76-6285-TP	p.L395H	T	GGCACTGTGCTCCTGGTCAGC	NM_005424	NP_005415	43774798	P35590	TIE1_HUMAN	0			8	1263	+	A	A	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	Missense_Mutation	395			Ig-like C2-type 2.|Extracellular (Potential).			
TIGD3	220359	broad.mit.edu	GRCh37	11	65124539	65124539	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0882-01	TCGA-06-0882-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309880.5:c.1260C>G	p.Asp420Glu	p.D420E	ENST00000309880	NM_145719.2	420	gaC/gaG	0			1			G	D/E	uc001odo.3	protein_coding	YES	CCDS8101.1			1260/1416										0	c.(1258-1260)GAC>GAG			hmmpanther:PTHR19303:SF163,hmmpanther:PTHR19303	tigger transposable element derived 3				ENSP00000308354		2-Feb									COSM2152344	2-Feb	.		ENST00000309880	Transcript			regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	ENSG00000173825	g.chr11:65124539C>G	18334			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TIGD3_HUMAN&rb=361&re=471&var=D420E	NA	getma.org/?cm=var&var=hg19,11,65124539,C,G&fts=all	D420E	--	--	1																																			1	1		benign(0.001)	p.D420E	NM_145719	NP_663771		tolerated(1)	1	TIGD3_HUMAN	TIGD3	HGNC	Q6B0B8	TIGD3_HUMAN					2	1423	+			UPI000013EF51	420					SNV	TIGD3,missense_variant,p.Asp420Glu,ENST00000309880,NM_145719.2;DPF2,downstream_gene_variant,,ENST00000528416,NM_006268.4;DPF2,downstream_gene_variant,,ENST00000252268,;DPF2,downstream_gene_variant,,ENST00000415073,;DPF2,downstream_gene_variant,,ENST00000531989,;DPF2,downstream_gene_variant,,ENST00000524666,;DPF2,downstream_gene_variant,,ENST00000532052,;	uc001odo.3	c.1260C>G	1467/2012	4	4			c.1260C>G						11	SNP	c.(1258-1260)GAC>GAG	23	23				0	Broad	tigger transposable element derived 3			65124539		0.587	ENSG00000173825	15653	g.chr11:65124539C>G	regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding							175.260415	KEEP	31	25	-1	68	62	31	25	-1	180.631578	68	62	0.314286	1	0	0	0	0	1	0	0	0	--	--		0	G				77	GBM-06-0882-TP	p.D420E	C	AGAAGGGGGACAGAGAGGGTG	NM_145719	NP_663771	65124539	Q6B0B8	TIGD3_HUMAN	0			2	1423	+	G	G			Missense_Mutation	420						
TIGD5	0	broad.mit.edu	GRCh37	8	144681263	144681263	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0688-01	TCGA-12-0688-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321385.3:c.1043G>A	p.Gly348Asp	p.G348D	ENST00000321385		348	gGc/gAc	0			1			A	G/D	uc003yyx.1	protein_coding					1043/1782										0	c.(1042-1044)GGC>GAC			hmmpanther:PTHR19303:SF210,hmmpanther:PTHR19303	tigger transposable element derived 5				ENSP00000315906		1-Jan									COSM3412803	1-Jan	.		ENST00000321385	Transcript			regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding	ENSG00000179886	g.chr8:144681263G>A	18336			MODERATE		2.08	medium	getma.org/?cm=msa&ty=f&p=TIGD5_HUMAN&rb=341&re=428&var=G397D	NA	getma.org/?cm=var&var=hg19,8,144681263,G,A&fts=all	G397D	--	--	1																																		EEF1D_uc011lki.1_5'Flank|EEF1D_uc011lkj.1_5'Flank|EEF1D_uc003yyr.2_5'Flank|EEF1D_uc003yyt.2_5'Flank|EEF1D_uc011lkk.1_5'Flank|EEF1D_uc003yys.2_5'Flank|EEF1D_uc003yyv.2_5'Flank|EEF1D_uc003yyu.2_5'Flank|EEF1D_uc011lkl.1_5'Flank	1			probably_damaging(0.999)	p.G348D	NM_032862	NP_116251		deleterious(0)	1	TIGD5_HUMAN	TIGD5	HGNC	Q53EQ6	TIGD5_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)				1	1043	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		UPI0000140B3A	397					SNV	TIGD5,missense_variant,p.Gly397Asp,ENST00000504548,NM_032862.4;TIGD5,missense_variant,p.Gly348Asp,ENST00000321385,;EEF1D,intron_variant,,ENST00000533749,;PYCRL,downstream_gene_variant,,ENST00000220966,NM_023078.3;EEF1D,upstream_gene_variant,,ENST00000423316,NM_001130053.2;EEF1D,upstream_gene_variant,,ENST00000442189,NM_032378.4;EEF1D,upstream_gene_variant,,ENST00000419152,NM_001130055.2;EEF1D,upstream_gene_variant,,ENST00000529272,;EEF1D,upstream_gene_variant,,ENST00000395119,NM_001960.4,NM_001195203.1;EEF1D,upstream_gene_variant,,ENST00000317198,NM_001130057.2;EEF1D,upstream_gene_variant,,ENST00000524624,;EEF1D,upstream_gene_variant,,ENST00000534380,;EEF1D,upstream_gene_variant,,ENST00000526710,;EEF1D,upstream_gene_variant,,ENST00000531670,;EEF1D,upstream_gene_variant,,ENST00000526838,;EEF1D,upstream_gene_variant,,ENST00000528610,NM_001130056.2;EEF1D,upstream_gene_variant,,ENST00000530191,;EEF1D,upstream_gene_variant,,ENST00000533204,;EEF1D,upstream_gene_variant,,ENST00000531621,;EEF1D,upstream_gene_variant,,ENST00000531281,;EEF1D,upstream_gene_variant,,ENST00000532543,;EEF1D,upstream_gene_variant,,ENST00000531218,;EEF1D,upstream_gene_variant,,ENST00000526340,;EEF1D,upstream_gene_variant,,ENST00000532596,;EEF1D,upstream_gene_variant,,ENST00000533494,;EEF1D,upstream_gene_variant,,ENST00000534377,;EEF1D,upstream_gene_variant,,ENST00000530545,;EEF1D,upstream_gene_variant,,ENST00000531931,;EEF1D,upstream_gene_variant,,ENST00000529832,;EEF1D,upstream_gene_variant,,ENST00000530306,;EEF1D,upstream_gene_variant,,ENST00000525261,;EEF1D,upstream_gene_variant,,ENST00000528303,;EEF1D,upstream_gene_variant,,ENST00000534804,;EEF1D,upstream_gene_variant,,ENST00000534475,;EEF1D,upstream_gene_variant,,ENST00000531953,;EEF1D,upstream_gene_variant,,ENST00000529516,;EEF1D,upstream_gene_variant,,ENST00000532400,;EEF1D,upstream_gene_variant,,ENST00000526133,;EEF1D,upstream_gene_variant,,ENST00000524900,;RP11-661A12.14,upstream_gene_variant,,ENST00000606452,;EEF1D,upstream_gene_variant,,ENST00000531770,;EEF1D,upstream_gene_variant,,ENST00000526786,;EEF1D,upstream_gene_variant,,ENST00000524397,;EEF1D,upstream_gene_variant,,ENST00000525695,;EEF1D,upstream_gene_variant,,ENST00000529007,;EEF1D,upstream_gene_variant,,ENST00000533833,;EEF1D,upstream_gene_variant,,ENST00000534232,;EEF1D,upstream_gene_variant,,ENST00000530848,;	uc003yyx.1	c.1043G>A	1190/2412	2	2			c.1043G>A						8	SNP	c.(1042-1044)GGC>GAC	17	17				0	Broad	tigger transposable element derived 5			144681263		0.692	ENSG00000179886	15655	g.chr8:144681263G>A	regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding							5.814371	KEEP	1	2	-1	10	11	1	2	-1	7.491646	10	11	0.176471	1	0	0	0	0	1	0	0	0	--	--		0	A			EEF1D_uc011lki.1_5'Flank|EEF1D_uc011lkj.1_5'Flank|EEF1D_uc003yyr.2_5'Flank|EEF1D_uc003yyt.2_5'Flank|EEF1D_uc011lkk.1_5'Flank|EEF1D_uc003yys.2_5'Flank|EEF1D_uc003yyv.2_5'Flank|EEF1D_uc003yyu.2_5'Flank|EEF1D_uc011lkl.1_5'Flank	121	GBM-12-0688-TP	p.G348D	G	ACACCGGATGGCGCTGTGCGG	NM_032862	NP_116251	144681263	Q53EQ6	TIGD5_HUMAN	0	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	1043	+	A	A	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	397						
TIGD7	0	broad.mit.edu	GRCh37	16	3349388	3349400	+	frameshift_variant	Frame_Shift_Del	DEL	TTCAGGTTCCTTT	TTCAGGTTCCTTT	-			TCGA-26-5136-01	TCGA-26-5136-01	TTCAGGTTCCTTT	TTCAGGTTCCTTT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396862.1:c.1215_1227delAAAGGAACCTGAA	p.Lys405AsnfsTer7	p.K405Nfs*7	ENST00000396862	NM_033208.3	405	aaAAAGGAACCTGAA/aa	0			1			-	KKEPE/X	uc002cus.2	protein_coding	YES	CCDS10500.1			1215-1227/1650										0	c.(1213-1227)AAAAAGGAACCTGAAfs			hmmpanther:PTHR19303:SF224,hmmpanther:PTHR19303	tigger transposable element derived 7				ENSP00000380071		2-Feb										2-Feb	.		ENST00000396862	Transcript			regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	ENSG00000140993	g.chr16:3349388_3349400delTTCAGGTTCCTTT	18331			HIGH								--	--	1																																		ZNF263_uc002cur.2_3'UTR		1			p.K405fs	NM_033208	NP_149985				TIGD7_HUMAN	TIGD7	HGNC	Q6NT04	TIGD7_HUMAN			I3L2A8_HUMAN		1	2001_2013	-			UPI0000072536	405_409					deletion	TIGD7,frameshift_variant,p.Lys405AsnfsTer7,ENST00000396862,NM_033208.3;TIGD7,frameshift_variant,p.Lys405AsnfsTer7,ENST00000268674,;ZNF263,3_prime_UTR_variant,,ENST00000575332,;ZNF263,intron_variant,,ENST00000574674,;TIGD7,downstream_gene_variant,,ENST00000573608,;TIGD7,downstream_gene_variant,,ENST00000574598,;TIGD7,downstream_gene_variant,,ENST00000573695,;TIGD7,downstream_gene_variant,,ENST00000572297,;TIGD7,downstream_gene_variant,,ENST00000570634,;TIGD7,downstream_gene_variant,,ENST00000576104,;TIGD7,downstream_gene_variant,,ENST00000571748,;	uc002cus.2	c.1215_1227delAAAGGAACCTGAA	3044-3056/3612	5	5			c.1215_1227delAAAGGAACCTGAA						16	DEL	c.(1213-1227)AAAAAGGAACCTGAAfs	28	28				0	Broad	tigger transposable element derived 7			3349400		0.329	ENSG00000140993	15657	g.chr16:3349388_3349400delTTCAGGTTCCTTT	regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding																				0.21	1	1	0	1	0	0	0	0	0	--	--		0	-			ZNF263_uc002cur.2_3'UTR	185	GBM-26-5136-TP	p.K405fs	TTCAGGTTCCTTT	GAAAATCATATTCAGGTTCCTTTTTGTAAAGAA	NM_033208	NP_149985	3349388	Q6NT04	TIGD7_HUMAN	0			1	2001_2013	-	-	-			Frame_Shift_Del	405_409						
TIMD4	91937	broad.mit.edu	GRCh37	5	156349123	156349123	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274532.2:c.999G>A	p.Ala333=	p.A333=	ENST00000274532	NM_138379.2	333	gcG/gcA	0		T:0	1	T:0		T	A	uc003lwh.2	protein_coding	YES	CCDS4332.1			999/1137									ovary(2)	2	c.(997-999)GCG>GCA			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR15498:SF29,hmmpanther:PTHR15498	T-cell immunoglobulin and mucin domain		T:0.001		ENSP00000274532	T:0	9-Jul	9.88E-05		0.000178	0.000117		0.000122		6.23E-05	rs188217458,COSM315926	9-Jul	.		ENST00000274532	Transcript		T:0.0002		integral to membrane		ENSG00000145850	g.chr5:156349123C>T	25132			LOW								--	--	1																																		TIMD4_uc010jii.2_Silent_p.A305A|TIMD4_uc003lwg.2_Silent_p.A35A	0,1	1			p.A333A	NM_138379	NP_612388	T:0		0,1	TIMD4_HUMAN	TIMD4	HGNC	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		B5MCV9_HUMAN		7	1056	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	UPI000013DA13	333			Helical; (Potential).		SNV	TIMD4,synonymous_variant,p.=,ENST00000274532,NM_138379.2;TIMD4,synonymous_variant,p.=,ENST00000407087,NM_001146726.1;TIMD4,synonymous_variant,p.=,ENST00000406964,;APOOP1,upstream_gene_variant,,ENST00000604695,;	uc003lwh.2	c.999G>A	1056/1369	1	1			c.999G>A						5	SNP	c.(997-999)GCG>GCA	6	6			ovary(2)	2	Broad	T-cell immunoglobulin and mucin domain			156349123		0.517	ENSG00000145850	15659	g.chr5:156349123C>T		integral to membrane								42.963089	KEEP	9	8	-1	13	17	9	8	-1	43.692497	13	17	0.363636	1	0	0	0	0	0	0	1	0	--	--		0	T			TIMD4_uc010jii.2_Silent_p.A305A|TIMD4_uc003lwg.2_Silent_p.A35A	65	GBM-06-0743-TP	p.A333A	C	TCAGGAGAAACGCCACAAACA	NM_138379	NP_612388	156349123	Q96H15	TIMD4_HUMAN	0	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		7	1056	-	T	T	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Silent	333			Helical; (Potential).			
TIMD4	0	broad.mit.edu	GRCh37	5	156381617	156381617	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01	TCGA-19-2629-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274532.2:c.209G>A	p.Arg70His	p.R70H	ENST00000274532	NM_138379.2	70	cGc/cAc	0			1			T	R/H	uc003lwh.2	protein_coding	YES	CCDS4332.1			209/1137									ovary(2)	2	c.(208-210)CGC>CAC			PROSITE_profiles:PS50835,hmmpanther:PTHR15498:SF29,hmmpanther:PTHR15498,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	T-cell immunoglobulin and mucin domain				ENSP00000274532		9-Feb	8.24E-06					1.50E-05			rs780115131,COSM1737547	9-Feb	.		ENST00000274532	Transcript				integral to membrane		ENSG00000145850	g.chr5:156381617C>T	25132			MODERATE		1.005	low	getma.org/?cm=msa&ty=f&p=TIMD4_HUMAN&rb=19&re=139&var=R70H	getma.org/pdb.php?prot=TIMD4_HUMAN&from=19&to=139&var=R70H	getma.org/?cm=var&var=hg19,5,156381617,C,T&fts=all	R70H	--	--	1																																		TIMD4_uc010jii.2_Missense_Mutation_p.R70H	0,1	1		benign(0.001)	p.R70H	NM_138379	NP_612388		tolerated(1)	0,1	TIMD4_HUMAN	TIMD4	HGNC	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		B5MCV9_HUMAN		2	266	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	UPI000013DA13	70			Ig-like V-type.|Extracellular (Potential).		SNV	TIMD4,missense_variant,p.Arg70His,ENST00000274532,NM_138379.2;TIMD4,missense_variant,p.Arg70His,ENST00000407087,NM_001146726.1;	uc003lwh.2	c.209G>A	266/1369	1	1			c.209G>A						5	SNP	c.(208-210)CGC>CAC	7	7			ovary(2)	2	Broad	T-cell immunoglobulin and mucin domain			156381617		0.522	ENSG00000145850	15659	g.chr5:156381617C>T		integral to membrane								-1.753483	KEEP	2	9	-1	65	63	2	9	-1	21.012201	65	63	0.079365	1	0	0	0	0	1	0	0	0	--	--		0	T			TIMD4_uc010jii.2_Missense_Mutation_p.R70H	166	GBM-19-2629-TP	p.R70H	C	TCCATCAGTGCGGATGAGCGC	NM_138379	NP_612388	156381617	Q96H15	TIMD4_HUMAN	0	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	266	-	T	T	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Missense_Mutation	70			Ig-like V-type.|Extracellular (Potential).			
TIMD4	0	broad.mit.edu	GRCh37	5	156378745	156378747	+	inframe_deletion	In_Frame_Del	DEL	TTG	TTG	-			TCGA-28-2513-01	TCGA-28-2513-01	TTG	TTG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274532.2:c.455_457delCAA	p.Thr152del	p.T152del	ENST00000274532	NM_138379.2	152	aCAAgc/agc	0			1			-	TS/S	uc003lwh.2	protein_coding	YES	CCDS4332.1			455-457/1137									ovary(2)	2	c.(454-459)ACAAGC>AGC			Low_complexity_(Seg):seg,hmmpanther:PTHR15498:SF29,hmmpanther:PTHR15498	T-cell immunoglobulin and mucin domain				ENSP00000274532		9-Mar	9.88E-05					1.50E-05		0.000666	rs775875699	9-Mar	common_variant		ENST00000274532	Transcript				integral to membrane		ENSG00000145850	g.chr5:156378745_156378747delTTG	25132			MODERATE								--	--	1																																		TIMD4_uc010jii.2_In_Frame_Del_p.T152del		1			p.T152del	NM_138379	NP_612388				TIMD4_HUMAN	TIMD4	HGNC	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		B5MCV9_HUMAN		3	512_514	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	UPI000013DA13	152			Extracellular (Potential).|Thr-rich.		deletion	TIMD4,inframe_deletion,p.Thr152del,ENST00000274532,NM_138379.2;TIMD4,inframe_deletion,p.Thr152del,ENST00000407087,NM_001146726.1;	uc003lwh.2	c.455_457delCAA	512-514/1369	5	5			c.455_457delCAA						5	DEL	c.(454-459)ACAAGC>AGC	1	1			ovary(2)	2	Broad	T-cell immunoglobulin and mucin domain			156378747		0.537	ENSG00000145850	15659	g.chr5:156378745_156378747delTTG		integral to membrane																					0.01	1	1	0	1	0	0	0	0	0	--	--		0	-			TIMD4_uc010jii.2_In_Frame_Del_p.T152del	213	GBM-28-2513-TP	p.T152del	TTG	GTGGTGGGGCTTGTTGTTGTTGT	NM_138379	NP_612388	156378745	Q96H15	TIMD4_HUMAN	0	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	512_514	-	-	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	In_Frame_Del	152			Extracellular (Potential).|Thr-rich.			
TIMELESS	0	broad.mit.edu	GRCh37	12	56822356	56822356	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01	TCGA-19-5950-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000553532.1:c.1385G>A	p.Arg462Lys	p.R462K	ENST00000553532		462	aGg/aAg	0			1			T	R/K	uc001slf.2	protein_coding	YES	CCDS8918.1			1385/3627									ovary(5)|breast(2)|pancreas(1)	8	c.(1384-1386)AGG>AAG			hmmpanther:PTHR22940:SF4,hmmpanther:PTHR22940	timeless homolog				ENSP00000450607		29-Dec									COSM2156565	29-Dec	.		ENST00000553532	Transcript			cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		ENSG00000111602	g.chr12:56822356C>T	11813			MODERATE		0.955	low	getma.org/?cm=msa&ty=f&p=TIM_HUMAN&rb=286&re=485&var=R462K	NA	getma.org/?cm=var&var=hg19,12,56822356,C,T&fts=all	R462K	--	--	1																																		TIMELESS_uc001slg.2_Missense_Mutation_p.R461K	1	1		benign(0.011)	p.R462K	NM_003920	NP_003911		tolerated(0.11)	1	TIM_HUMAN	TIMELESS	HGNC	Q9UNS1	TIM_HUMAN					12	1553	-			UPI000013C8EA	462					SNV	TIMELESS,missense_variant,p.Arg461Lys,ENST00000229201,NM_003920.3;TIMELESS,missense_variant,p.Arg462Lys,ENST00000553532,;TIMELESS,intron_variant,,ENST00000554616,;TIMELESS,upstream_gene_variant,,ENST00000557589,;	uc001slf.2	c.1385G>A	1536/4371	2	2			c.1385G>A						12	SNP	c.(1384-1386)AGG>AAG	27	27			ovary(5)|breast(2)|pancreas(1)	8	Broad	timeless homolog			56822356		0.557	ENSG00000111602	15660	g.chr12:56822356C>T	cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin								54.568767	KEEP	5	15	-1	11	14	5	15	-1	54.765042	11	14	0.425	1	0	0	0	0	1	0	0	0	--	--		0	T			TIMELESS_uc001slg.2_Missense_Mutation_p.R461K	170	GBM-19-5950-TP	p.R462K	C	GCTGCTCTCCCTCACAGCCTC	NM_003920	NP_003911	56822356	Q9UNS1	TIM_HUMAN	0			12	1553	-	T	T			Missense_Mutation	462						
TIMM21	29090	broad.mit.edu	GRCh37	18	71825425	71825425	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-6390-01	TCGA-06-6390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000169551.6:c.556G>C	p.Asp186His	p.D186H	ENST00000169551	NM_014177.2	186	Gat/Cat	0			1			C	D/H	uc010dqr.1	protein_coding	YES	CCDS12003.1			556/747										0	c.(556-558)GAT>CAT			Pfam_domain:PF08294,hmmpanther:PTHR13032	hypothetical protein LOC29090 precursor				ENSP00000169551		6-May									COSM2153430	6-May	.		ENST00000169551	Transcript			protein transport|transmembrane transport	integral to membrane|mitochondrial membrane		ENSG00000075336	g.chr18:71825425G>C	25010			MODERATE		2.325	medium	getma.org/?cm=msa&ty=f&p=TIM21_HUMAN&rb=1&re=200&var=D186H	NA	getma.org/?cm=var&var=hg19,18,71825425,G,C&fts=all	D186H	--	--	1																																			1	1		possibly_damaging(0.746)	p.D186H	NM_014177	NP_054896		deleterious(0.04)	1	TIM21_HUMAN	TIMM21	HGNC	Q9BVV7	TI21L_HUMAN			A8K1K8_HUMAN		5	854	+		Esophageal squamous(42;0.0746)|Prostate(75;0.157)|Melanoma(33;0.211)	UPI0000073827	186					SNV	TIMM21,missense_variant,p.Asp186His,ENST00000169551,NM_014177.2;TIMM21,missense_variant,p.Asp76His,ENST00000579071,;TIMM21,downstream_gene_variant,,ENST00000580087,;TIMM21,non_coding_transcript_exon_variant,,ENST00000584925,;TIMM21,downstream_gene_variant,,ENST00000577952,;TIMM21,downstream_gene_variant,,ENST00000581467,;	uc010dqr.1	c.556G>C	854/1527	3	3			c.556G>C						18	SNP	c.(556-558)GAT>CAT	60	60				0	Broad	hypothetical protein LOC29090 precursor			71825425		0.448	ENSG00000075336	1863	g.chr18:71825425G>C	protein transport|transmembrane transport	integral to membrane|mitochondrial membrane								50.791858	KEEP	10	10	-1	22	18	10	10	-1	52.937629	22	18	0.290909	1	0	0	0	0	1	0	0	0	--	--		0	C				106	GBM-06-6390-TP	p.D186H	G	ATATGTAAAAGATGGGCTGAA	NM_014177	NP_054896	71825425	Q9BVV7	TI21L_HUMAN	0			5	854	+	C	C		Esophageal squamous(42;0.0746)|Prostate(75;0.157)|Melanoma(33;0.211)	Missense_Mutation	186						
TIMM44	10469		GRCh37	19	7998999	7998999	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000270538.3:c.518C>A	p.Thr173Lys	p.T173K	ENST00000270538	NM_006351.3	173	aCa/aAa	0																																																																																																																																																																																																																																												
TIMM50	0	broad.mit.edu	GRCh37	19	39972604	39972604	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-32-1977-01	TCGA-32-1977-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000607714.1:c.195delA	p.Val66LeufsTer15	p.V66Lfs*15	ENST00000607714		64	Aaa/aa	0			1			-	K/X	uc002olu.1	protein_coding					190/1062									ovary(1)	1	c.(499-501)AAAfs			hmmpanther:PTHR12210,hmmpanther:PTHR12210:SF3,Low_complexity_(Seg):seg	translocase of inner mitochondrial membrane 50				ENSP00000475531		11-Feb									COSM1267858	11-Feb	.		ENST00000607714	Transcript			mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding	ENSG00000105197	g.chr19:39972604delA	23656	5		HIGH								--	--	1																																		TIMM50_uc002olt.1_RNA	1				p.K167fs	NM_001001563	NP_001001563			1	TIM50_HUMAN	TIMM50	HGNC	Q3ZCQ8	TIM50_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)				2	632	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		UPI0000202335	64			Mitochondrial matrix (Potential).		deletion	TIMM50,frameshift_variant,p.Val169LeufsTer15,ENST00000314349,NM_001001563.1;TIMM50,frameshift_variant,p.Val66LeufsTer15,ENST00000607714,;TIMM50,frameshift_variant,p.Val66LeufsTer15,ENST00000602028,;TIMM50,frameshift_variant,p.Val66LeufsTer15,ENST00000601403,;TIMM50,frameshift_variant,p.Val61LeufsTer15,ENST00000594583,;TIMM50,5_prime_UTR_variant,,ENST00000544017,;TIMM50,intron_variant,,ENST00000599794,;TIMM50,intron_variant,,ENST00000597666,;TIMM50,frameshift_variant,p.Val66LeufsTer15,ENST00000601358,;TIMM50,frameshift_variant,p.Val42LeufsTer15,ENST00000602265,;TIMM50,frameshift_variant,p.Val42LeufsTer15,ENST00000599733,;TIMM50,frameshift_variant,p.Val57LeufsTer15,ENST00000597782,;TIMM50,non_coding_transcript_exon_variant,,ENST00000595286,;TIMM50,non_coding_transcript_exon_variant,,ENST00000598125,;TIMM50,upstream_gene_variant,,ENST00000595961,;TIMM50,upstream_gene_variant,,ENST00000596239,;	uc002olu.1	c.499delA	212/1338	5	5			c.499delA						19	DEL	c.(499-501)AAAfs	58	58			ovary(1)	1	Broad	translocase of inner mitochondrial membrane 50			39972604		0.607	ENSG00000105197	15669	g.chr19:39972604delA	mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding																				0.01	1	1	0	1	0	0	0	0	0	--	--		0	-			TIMM50_uc002olt.1_RNA	229	GBM-32-1977-TP	p.K167fs	A	CAGCTATGCCAAAAAAGTTGC	NM_001001563	NP_001001563	39972604	Q3ZCQ8	TIM50_HUMAN	0	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		2	632	+	-	-	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Frame_Shift_Del	64			Mitochondrial matrix (Potential).			
TIMP3	7078	broad.mit.edu	GRCh37	22	33255261	33255261	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0122-01	TCGA-06-0122-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266085.6:c.533A>C	p.Gln178Pro	p.Q178P	ENST00000266085	NM_000362.4	178	cAg/cCg	0			1			C	Q/P	uc003anb.2	protein_coding	YES	CCDS13911.1			533/636									lung(1)	1	c.(532-534)CAG>CCG			Gene3D:2e2dC01,Pfam_domain:PF00965,hmmpanther:PTHR11844,hmmpanther:PTHR11844:SF6,SMART_domains:SM00206,Superfamily_domains:SSF50242	tissue inhibitor of metalloproteinase 3				ENSP00000266085		5-May									COSM2149215	5-May	.		ENST00000266085	Transcript	1		negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding	ENSG00000100234	g.chr22:33255261A>C	11822			MODERATE		2.275	medium	getma.org/?cm=msa&ty=f&p=TIMP3_HUMAN&rb=22&re=194&var=Q178P	getma.org/pdb.php?prot=TIMP3_HUMAN&from=22&to=194&var=Q178P	getma.org/?cm=var&var=hg19,22,33255261,A,C&fts=all	Q178P	--	--	1																																		SYN3_uc003amx.2_Intron|SYN3_uc003amy.2_Intron|SYN3_uc003amz.2_Intron	1	1		probably_damaging(0.996)	p.Q178P	NM_000362	NP_000353		deleterious(0)	1	TIMP3_HUMAN	TIMP3	HGNC	P35625	TIMP3_HUMAN					5	1719	+			UPI000005F30A	178			Mediates interaction with EFEMP1.		SNV	TIMP3,missense_variant,p.Gln178Pro,ENST00000266085,NM_000362.4;SYN3,intron_variant,,ENST00000358763,NM_001135774.1;SYN3,intron_variant,,ENST00000332840,NM_003490.3,NM_133633.2;SYN3,intron_variant,,ENST00000462268,;Z98256.1,downstream_gene_variant,,ENST00000327661,;	uc003anb.2	c.533A>C	834/4603	3	3			c.533A>C						22	SNP	c.(532-534)CAG>CCG	49	49			lung(1)	1	Broad	tissue inhibitor of metalloproteinase 3			33255261		0.557	ENSG00000100234	15675	g.chr22:33255261A>C	negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			10			10	46.561269	KEEP	8	11	-1	14	12	8	11	-1	46.823395	14	12	0.414634	1	0	0	0	0	1	0	0	0	--	--		0	C			SYN3_uc003amx.2_Intron|SYN3_uc003amy.2_Intron|SYN3_uc003amz.2_Intron	10	GBM-06-0122-TP	p.Q178P	A	CCTGGCTACCAGTCCAAACAC	NM_000362	NP_000353	33255261	P35625	TIMP3_HUMAN	0			5	1719	+	C	C			Missense_Mutation	178			Mediates interaction with EFEMP1.			
TINAG	27283		GRCh37	6	54191661	54191661	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000259782.4:c.571C>T	p.Arg191Cys	p.R191C	ENST00000259782	NM_014464.3	191	Cgc/Tgc	0																																																																																																																																																																																																																																												
TINAG	27283		GRCh37	6	54254704	54254704	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000259782.4:c.1412C>T	p.Thr471Met	p.T471M	ENST00000259782	NM_014464.3	471	aCg/aTg	0																																																																																																																																																																																																																																												
TINAGL1	64129		GRCh37	1	32050587	32050587	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000271064.7:c.807C>T	p.Gly269=	p.G269=	ENST00000271064	NM_022164.2	269	ggC/ggT	0																																																																																																																																																																																																																																												
TINAGL1	64129		GRCh37	1	32049166	32049166	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000271064.7:c.572A>C	p.His191Pro	p.H191P	ENST00000271064	NM_022164.2	191	cAt/cCt	0																																																																																																																																																																																																																																												
TINF2	26277	broad.mit.edu	GRCh37	14	24709082	24709082	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267415.7:c.1277G>A	p.Cys426Tyr	p.C426Y	ENST00000267415	NM_001099274.1	426	tGt/tAt	0			1			T	C/Y	uc001woa.3	protein_coding	YES	CCDS41936.1			1277/1356										0	c.(1276-1278)TGT>TAT			hmmpanther:PTHR15512,hmmpanther:PTHR15512:SF0	TERF1 (TRF1)-interacting nuclear factor 2				ENSP00000267415		9-Sep									COSM2151429	9-Sep	.	Ataxia_Pancytopenia_syndrome|Congenital_Dyskeratosis	ENST00000267415	Transcript	1		negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|protein binding|telomeric DNA binding	ENSG00000092330	g.chr14:24709082C>T	11824			MODERATE		0.57	neutral	getma.org/?cm=msa&ty=f&p=TINF2_HUMAN&rb=1&re=430&var=C426Y	NA	getma.org/?cm=var&var=hg19,14,24709082,C,T&fts=all	C426Y	--	--	1																																		TINF2_uc010alm.2_3'UTR|TINF2_uc001wob.3_3'UTR|TINF2_uc010tof.1_Missense_Mutation_p.C391Y|TINF2_uc001woc.3_3'UTR	1	1		benign(0)	p.C426Y	NM_001099274	NP_001092744		tolerated_low_confidence(0.47)	1	TINF2_HUMAN	TINF2	HGNC	Q9BSI4	TINF2_HUMAN		GBM - Glioblastoma multiforme(265;0.0185)	Q86TZ8_HUMAN,H0YKA6_HUMAN,B3W5Q7_HUMAN		9	1619	-			UPI0000136FAB	426					SNV	TINF2,missense_variant,p.Cys426Tyr,ENST00000267415,NM_001099274.1;TINF2,missense_variant,p.Cys391Tyr,ENST00000540705,;TINF2,3_prime_UTR_variant,,ENST00000399423,NM_012461.2;TINF2,3_prime_UTR_variant,,ENST00000558566,;TINF2,3_prime_UTR_variant,,ENST00000538777,;TINF2,3_prime_UTR_variant,,ENST00000559969,;TINF2,3_prime_UTR_variant,,ENST00000560019,;GMPR2,downstream_gene_variant,,ENST00000557854,NM_001283022.1;GMPR2,downstream_gene_variant,,ENST00000348719,;GMPR2,downstream_gene_variant,,ENST00000355299,NM_001002000.1;GMPR2,downstream_gene_variant,,ENST00000559836,NM_001002001.1;GMPR2,downstream_gene_variant,,ENST00000420554,NM_016576.3;GMPR2,downstream_gene_variant,,ENST00000559104,;GMPR2,downstream_gene_variant,,ENST00000399440,NM_001002002.1;GMPR2,downstream_gene_variant,,ENST00000559910,;GMPR2,downstream_gene_variant,,ENST00000456667,NM_001283023.1;TINF2,downstream_gene_variant,,ENST00000558476,;TINF2,downstream_gene_variant,,ENST00000559019,;GMPR2,downstream_gene_variant,,ENST00000561035,;GMPR2,downstream_gene_variant,,ENST00000558483,;GMPR2,downstream_gene_variant,,ENST00000558865,;GMPR2,downstream_gene_variant,,ENST00000558748,;GMPR2,downstream_gene_variant,,ENST00000559409,;GMPR2,downstream_gene_variant,,ENST00000560139,;GMPR2,downstream_gene_variant,,ENST00000559479,;GMPR2,downstream_gene_variant,,ENST00000558788,;TINF2,downstream_gene_variant,,ENST00000557921,;GMPR2,downstream_gene_variant,,ENST00000559943,;GMPR2,downstream_gene_variant,,ENST00000558279,;GMPR2,downstream_gene_variant,,ENST00000558932,;GMPR2,downstream_gene_variant,,ENST00000560517,;TINF2,downstream_gene_variant,,ENST00000558510,;GMPR2,downstream_gene_variant,,ENST00000558701,;TINF2,non_coding_transcript_exon_variant,,ENST00000557915,;TINF2,non_coding_transcript_exon_variant,,ENST00000558703,;GMPR2,downstream_gene_variant,,ENST00000561038,NM_001283021.1;GMPR2,downstream_gene_variant,,ENST00000559287,;GMPR2,downstream_gene_variant,,ENST00000561130,;GMPR2,downstream_gene_variant,,ENST00000558760,;GMPR2,downstream_gene_variant,,ENST00000559606,;GMPR2,downstream_gene_variant,,ENST00000559102,;TINF2,downstream_gene_variant,,ENST00000559549,;TINF2,downstream_gene_variant,,ENST00000559147,;TINF2,downstream_gene_variant,,ENST00000557830,;GMPR2,downstream_gene_variant,,ENST00000558007,;	uc001woa.3	c.1277G>A	1619/1852	2	2			c.1277G>A						14	SNP	c.(1276-1278)TGT>TAT	41	41				0	Broad	TERF1 (TRF1)-interacting nuclear factor 2			24709082	Ataxia_Pancytopenia_syndrome|Congenital_Dyskeratosis	0.463	ENSG00000092330	15679	g.chr14:24709082C>T	negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|protein binding|telomeric DNA binding							74.51863	KEEP	20	15	-1	32	39	20	15	-1	76.148488	32	39	0.358696	1	0	0	0	0	1	0	0	0	--	--		0	T			TINF2_uc010alm.2_3'UTR|TINF2_uc001wob.3_3'UTR|TINF2_uc010tof.1_Missense_Mutation_p.C391Y|TINF2_uc001woc.3_3'UTR	62	GBM-06-0649-TP	p.C426Y	C	TAGGTATTCACAGAGAGTGGG	NM_001099274	NP_001092744	24709082	Q9BSI4	TINF2_HUMAN	0		GBM - Glioblastoma multiforme(265;0.0185)	9	1619	-	T	T			Missense_Mutation	426						
TIPRL	261726	broad.mit.edu	GRCh37	1	168165850	168165850	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-5415-01	TCGA-06-5415-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367833.2:c.582C>A	p.Ile194=	p.I194=	ENST00000367833	NM_152902.3	194	atC/atA	0			1			A	I	uc001gfg.2	protein_coding	YES	CCDS1270.1			582/819									ovary(1)	1	c.(580-582)ATC>ATA			Pfam_domain:PF04176,hmmpanther:PTHR21021	TIP41, TOR signalling pathway regulator-like				ENSP00000356807		7-May									COSM3399964	7-May	.		ENST00000367833	Transcript			DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding	ENSG00000143155	g.chr1:168165850C>A	30231			LOW								--	--	1																																		TIPRL_uc001gfh.2_Silent_p.I194I	1	1			p.I194I	NM_152902	NP_690866			1	TIPRL_HUMAN	TIPRL	HGNC	O75663	TIPRL_HUMAN					5	727	+	all_hematologic(923;0.215)		UPI0000071605	194			Interaction with PPP2CA.		SNV	TIPRL,synonymous_variant,p.=,ENST00000367833,NM_152902.3;TIPRL,downstream_gene_variant,,ENST00000367830,NM_001031800.1;	uc001gfg.2	c.582C>A	727/1630	2	2			c.582C>A						1	SNP	c.(580-582)ATC>ATA	26	26			ovary(1)	1	Broad	TIP41, TOR signalling pathway regulator-like			168165850		0.323	ENSG00000143155	15682	g.chr1:168165850C>A	DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding							-37.869891	KEEP	4	1	0.2	97	128	4	1	0.2	7.117386	97	128	0.022599	1	0	0	0	0	0	0	1	0	--	--		0	A			TIPRL_uc001gfh.2_Silent_p.I194I	98	GBM-06-5415-TP	p.I194I	C	GGGTGCTTATCAGAATGAATG	NM_152902	NP_690866	168165850	O75663	TIPRL_HUMAN	0			5	727	+	A	A	all_hematologic(923;0.215)		Silent	194			Interaction with PPP2CA.			
TJAP1	0	broad.mit.edu	GRCh37	6	43472961	43472961	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4934-01	TCGA-76-4934-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372445.5:c.1042C>T	p.Pro348Ser	p.P348S	ENST00000372445	NM_001146016.1	348	Ccc/Tcc	0			1			T	P/S	uc003ovd.2	protein_coding	YES	CCDS55004.1			1042/1674										0	c.(1042-1044)CCC>TCC			Pfam_domain:PF15453	tight junction associated protein 1 isoform a				ENSP00000361522		11-Nov									COSM3411132,COSM3411131	11-Nov	.		ENST00000372445	Transcript				Golgi apparatus|tight junction	protein binding	ENSG00000137221	g.chr6:43472961C>T	17949			MODERATE		1.495	low	getma.org/?cm=msa&ty=f&p=TJAP1_HUMAN&rb=1&re=556&var=P348S	NA	getma.org/?cm=var&var=hg19,6,43472961,C,T&fts=all	P348S	--	--	1																																		TJAP1_uc003ovf.2_Missense_Mutation_p.P338S|TJAP1_uc003ove.2_Missense_Mutation_p.P338S|TJAP1_uc003ovc.2_Missense_Mutation_p.P338S|TJAP1_uc010jyp.2_Missense_Mutation_p.P307S|TJAP1_uc011dvh.1_Missense_Mutation_p.P338S|TJAP1_uc003ovg.2_Missense_Mutation_p.P214S|TJAP1_uc011dvi.1_Missense_Mutation_p.P348S|TJAP1_uc011dvj.1_Missense_Mutation_p.P148S|TJAP1_uc003ovi.2_Missense_Mutation_p.P214S	1,1	1		probably_damaging(0.999)	p.P348S	NM_001146016	NP_001139488		deleterious(0)	1,1	TJAP1_HUMAN	TJAP1	HGNC	Q5JTD0	TJAP1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		E2QRK7_HUMAN,B3KT40_HUMAN		11	1418	+	all_lung(25;0.00536)		UPI00004A3A96	348					SNV	TJAP1,missense_variant,p.Pro338Ser,ENST00000372444,NM_001146018.1;TJAP1,missense_variant,p.Pro348Ser,ENST00000372445,NM_001146016.1;TJAP1,missense_variant,p.Pro338Ser,ENST00000259751,NM_080604.2;TJAP1,missense_variant,p.Pro348Ser,ENST00000438588,NM_001146017.1;TJAP1,missense_variant,p.Pro348Ser,ENST00000372449,;TJAP1,missense_variant,p.Pro338Ser,ENST00000372452,NM_001146019.1;TJAP1,missense_variant,p.Pro338Ser,ENST00000436109,NM_001146020.1;TJAP1,3_prime_UTR_variant,,ENST00000454762,;LRRC73,downstream_gene_variant,,ENST00000372441,NM_001271882.1,NM_001012974.2;TJAP1,downstream_gene_variant,,ENST00000442878,;TJAP1,downstream_gene_variant,,ENST00000372454,;POLR1C,upstream_gene_variant,,ENST00000428025,;TJAP1,non_coding_transcript_exon_variant,,ENST00000483640,;TJAP1,downstream_gene_variant,,ENST00000490050,;TJAP1,downstream_gene_variant,,ENST00000478173,;TJAP1,downstream_gene_variant,,ENST00000459851,;	uc003ovd.2	c.1042C>T	1418/2751	2	2			c.1042C>T						6	SNP	c.(1042-1044)CCC>TCC	45	45				0	Broad	tight junction associated protein 1 isoform a			43472961		0.512	ENSG00000137221	15684	g.chr6:43472961C>T		Golgi apparatus|tight junction	protein binding							159.389152	KEEP	30	37	-1	61	68	30	37	-1	163.177125	61	68	0.344633	1	0	0	0	0	1	0	0	0	--	--		0	T			TJAP1_uc003ovf.2_Missense_Mutation_p.P338S|TJAP1_uc003ove.2_Missense_Mutation_p.P338S|TJAP1_uc003ovc.2_Missense_Mutation_p.P338S|TJAP1_uc010jyp.2_Missense_Mutation_p.P307S|TJAP1_uc011dvh.1_Missense_Mutation_p.P338S|TJAP1_uc003ovg.2_Missense_Mutation_p.P214S|TJAP1_uc011dvi.1_Missense_Mutation_p.P348S|TJAP1_uc011dvj.1_Missense_Mutation_p.P148S|TJAP1_uc003ovi.2_Missense_Mutation_p.P214S	272	GBM-76-4934-TP	p.P348S	C	CAGCCCCCTGCCCAACTGCAC	NM_001146016	NP_001139488	43472961	Q5JTD0	TJAP1_HUMAN	0	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		11	1418	+	T	T	all_lung(25;0.00536)		Missense_Mutation	348						
TJP1	0	broad.mit.edu	GRCh37	15	30000963	30000963	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000346128.6:c.4650C>T	p.His1550=	p.H1550=	ENST00000346128	NM_175610.2	1550	caC/caT	0			1			A	H	uc001zcr.2	protein_coding	YES	CCDS42007.1			4650/5247									ovary(4)|central_nervous_system(1)|pancreas(1)	6	c.(4648-4650)CAC>CAT			hmmpanther:PTHR13865,hmmpanther:PTHR13865:SF25	tight junction protein 1 isoform a				ENSP00000281537		25/28									COSM3401663	25/28	.		ENST00000346128	Transcript			cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		ENSG00000104067	g.chr15:30000963G>A	11827			LOW								--	--	1																																		TJP1_uc010azl.2_Silent_p.H1538H|TJP1_uc001zcq.2_Silent_p.H1474H|TJP1_uc001zcs.2_Silent_p.H1470H	1	1			p.H1550H	NM_003257	NP_003248			1	ZO1_HUMAN	TJP1	HGNC	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)			25	5125	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	UPI000013DC83	1550					SNV	TJP1,synonymous_variant,p.=,ENST00000346128,NM_175610.2,NM_003257.3;TJP1,synonymous_variant,p.=,ENST00000400011,;TJP1,synonymous_variant,p.=,ENST00000356107,;TJP1,synonymous_variant,p.=,ENST00000545208,;TJP1,synonymous_variant,p.=,ENST00000400007,;TJP1,upstream_gene_variant,,ENST00000579042,;	uc001zcr.2	c.4650C>T	5125/7950	2	2			c.4650C>T						15	SNP	c.(4648-4650)CAC>CAT	35	35			ovary(4)|central_nervous_system(1)|pancreas(1)	6	Broad	tight junction protein 1 isoform a			30000963		0.413	ENSG00000104067	15685	g.chr15:30000963G>A	cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		Melanoma(77;681 1843 6309 6570)			Melanoma(77;681 1843 6309 6570)			-84.528075	KEEP	13	3	-1	224	249	13	3	-1	19.684636	224	249	0.030233	1	0	0	0	0	0	0	1	0	--	--		0	A			TJP1_uc010azl.2_Silent_p.H1538H|TJP1_uc001zcq.2_Silent_p.H1474H|TJP1_uc001zcs.2_Silent_p.H1470H	129	GBM-12-5295-TP	p.H1550H	G	GCAGAAGATTGTGATTGAATT	NM_003257	NP_003248	30000963	Q07157	ZO1_HUMAN	0		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	25	5125	-	A	A		all_lung(180;7.48e-11)|Breast(32;0.000153)	Silent	1550						
TJP1	0	broad.mit.edu	GRCh37	15	30012191	30012192	+	stop_gained,frameshift_variant	Nonsense_Mutation	INS	-	-	T			TCGA-14-1450-01	TCGA-14-1450-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000346128.6:c.2792dupA	p.Tyr931Ter	p.Y931*	ENST00000346128	NM_175610.2	931	tac/taAc	0			1			T	Y/*	uc001zcr.2	protein_coding	YES	CCDS42007.1			2792-2793/5247									ovary(4)|central_nervous_system(1)|pancreas(1)	6	c.(2791-2793)TACfs			hmmpanther:PTHR13865,hmmpanther:PTHR13865:SF25	tight junction protein 1 isoform a				ENSP00000281537		20/28										20/28	.		ENST00000346128	Transcript			cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		ENSG00000104067	g.chr15:30012191_30012192insT	11827			HIGH								--	--	1																																		TJP1_uc010azl.2_Frame_Shift_Ins_p.Y919fs|TJP1_uc001zcq.2_Intron|TJP1_uc001zcs.2_Intron		1			p.Y931fs	NM_003257	NP_003248				ZO1_HUMAN	TJP1	HGNC	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)			20	3267_3268	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	UPI000013DC83	931					insertion	TJP1,stop_gained,p.Tyr931Ter,ENST00000346128,NM_175610.2,NM_003257.3;TJP1,stop_gained,p.Tyr931Ter,ENST00000356107,;TJP1,intron_variant,,ENST00000400011,;TJP1,intron_variant,,ENST00000545208,;TJP1,non_coding_transcript_exon_variant,,ENST00000561307,;	uc001zcr.2	c.2792_2793insA	3267-3268/7950	5	5			c.2792_2793insA						15	INS	c.(2791-2793)TACfs	54	54			ovary(4)|central_nervous_system(1)|pancreas(1)	6	Broad	tight junction protein 1 isoform a			30012192		0.386	ENSG00000104067	15685	g.chr15:30012191_30012192insT	cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		Melanoma(77;681 1843 6309 6570)			Melanoma(77;681 1843 6309 6570)																0.32	1	0	0	1	1	0	0	0	0	--	--		0	T			TJP1_uc010azl.2_Frame_Shift_Ins_p.Y919fs|TJP1_uc001zcq.2_Intron|TJP1_uc001zcs.2_Intron	145	GBM-14-1450-TP	p.Y931fs	-	CAGGCGAAAGGTAAGGGACTGG	NM_003257	NP_003248	30012191	Q07157	ZO1_HUMAN	0		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	20	3267_3268	-	T	T		all_lung(180;7.48e-11)|Breast(32;0.000153)	Frame_Shift_Ins	931						
TJP1	0	broad.mit.edu	GRCh37	15	30053400	30053400	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-28-2509-01	TCGA-28-2509-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000346128.6:c.952C>T	p.Gln318Ter	p.Q318*	ENST00000346128	NM_175610.2	318	Cag/Tag	0			1			A	Q/*	uc001zcr.2	protein_coding	YES	CCDS42007.1			952/5247									ovary(4)|central_nervous_system(1)|pancreas(1)	6	c.(952-954)CAG>TAG			hmmpanther:PTHR13865,hmmpanther:PTHR13865:SF25,Low_complexity_(Seg):seg	tight junction protein 1 isoform a				ENSP00000281537		28-Aug									COSM3401665	28-Aug	.		ENST00000346128	Transcript			cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		ENSG00000104067	g.chr15:30053400G>A	11827			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,15,30053400,G,A&fts=all	Q318*	--	--	1																																		TJP1_uc010azl.2_Nonsense_Mutation_p.Q306*|TJP1_uc001zcq.2_Nonsense_Mutation_p.Q322*|TJP1_uc001zcs.2_Nonsense_Mutation_p.Q318*	1	1			p.Q318*	NM_003257	NP_003248			1	ZO1_HUMAN	TJP1	HGNC	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)			8	1427	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	UPI000013DC83	318					SNV	TJP1,stop_gained,p.Gln318Ter,ENST00000346128,NM_175610.2,NM_003257.3;TJP1,stop_gained,p.Gln322Ter,ENST00000400011,;TJP1,stop_gained,p.Gln318Ter,ENST00000356107,;TJP1,stop_gained,p.Gln318Ter,ENST00000545208,;TJP1,stop_gained,p.Gln318Ter,ENST00000495972,;	uc001zcr.2	c.952C>T	1427/7950	5	2			c.952C>T						15	SNP	c.(952-954)CAG>TAG	26	26			ovary(4)|central_nervous_system(1)|pancreas(1)	6	Broad	tight junction protein 1 isoform a			30053400		0.488	ENSG00000104067	15685	g.chr15:30053400G>A	cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		Melanoma(77;681 1843 6309 6570)			Melanoma(77;681 1843 6309 6570)			130.260414	KEEP	22	32	-1	19	29	22	32	-1	130.364879	19	29	0.538462	1	0	0	0	0	0	1	0	0	--	--		0	A			TJP1_uc010azl.2_Nonsense_Mutation_p.Q306*|TJP1_uc001zcq.2_Nonsense_Mutation_p.Q322*|TJP1_uc001zcs.2_Nonsense_Mutation_p.Q318*	211	GBM-28-2509-TP	p.Q318*	G	TCTGACCGCTGGTCAGGAGAT	NM_003257	NP_003248	30053400	Q07157	ZO1_HUMAN	0		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	8	1427	-	A	A		all_lung(180;7.48e-11)|Breast(32;0.000153)	Nonsense_Mutation	318						
TJP3	27134	broad.mit.edu	GRCh37	19	3730053	3730053	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589378.1:c.213C>T	p.Asn71=	p.N71=	ENST00000589378	NM_001267561.1	71	aaC/aaT	0			1			T	N	uc010xhv.1	protein_coding		CCDS32873.2			186/2760									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(241-243)AAC>AAT			PROSITE_profiles:PS50106,hmmpanther:PTHR13865,hmmpanther:PTHR13865:SF11,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156	tight junction protein 3				ENSP00000439278		21-Apr	1.65E-05			0.000116				6.06E-05	rs751459511,COSM2149087	21-Apr	.		ENST00000541714	Transcript				tight junction	protein binding	ENSG00000105289	g.chr19:3730053C>T	11829			LOW								--	--	1																																		TJP3_uc010xhs.1_Silent_p.N62N|TJP3_uc010xht.1_Silent_p.N26N|TJP3_uc010xhu.1_Silent_p.N71N|TJP3_uc010xhw.1_Silent_p.N81N	0,1				p.N81N	NM_014428	NP_055243			0,1		TJP3	HGNC	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	F5H4S9_HUMAN,F5H2X0_HUMAN		3	243	+			UPI000059D630	62			PDZ 1.		SNV	TJP3,synonymous_variant,p.=,ENST00000541714,NM_001267560.1;TJP3,synonymous_variant,p.=,ENST00000382008,;TJP3,synonymous_variant,p.=,ENST00000589378,NM_001267561.1;TJP3,synonymous_variant,p.=,ENST00000587686,;TJP3,synonymous_variant,p.=,ENST00000539908,;TJP3,synonymous_variant,p.=,ENST00000262968,;TJP3,synonymous_variant,p.=,ENST00000590545,;TJP3,non_coding_transcript_exon_variant,,ENST00000587912,;	uc010xhv.1	c.243C>T	648/3350	2	2			c.243C>T						19	SNP	c.(241-243)AAC>AAT	30	30			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	tight junction protein 3			3730053		0.597	ENSG00000105289	15687	g.chr19:3730053C>T		tight junction	protein binding							131.298001	KEEP	26	33	-1	85	100	26	33	-1	142.596209	85	100	0.253659	1	0	0	0	0	0	0	1	0	--	--		0	T			TJP3_uc010xhs.1_Silent_p.N62N|TJP3_uc010xht.1_Silent_p.N26N|TJP3_uc010xhu.1_Silent_p.N71N|TJP3_uc010xhw.1_Silent_p.N81N	5	GBM-02-2470-TP	p.N81N	C	TCATGGTGAACGGGGTTTCCA	NM_014428	NP_055243	3730053	O95049	ZO3_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	3	243	+	T	T			Silent	62			PDZ 1.			
TJP3	27134	broad.mit.edu	GRCh37	19	3735631	3735631	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01	TCGA-06-2564-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589378.1:c.1081C>T	p.Arg361Trp	p.R361W	ENST00000589378	NM_001267561.1	361	Cgg/Tgg	0			1			T	R/W	uc010xhv.1	protein_coding		CCDS32873.2			1054/2760									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(1153-1155)CGG>TGG			hmmpanther:PTHR13865,hmmpanther:PTHR13865:SF11	tight junction protein 3				ENSP00000439278		21-Sep	2.47E-05							0.000182	rs773684036,COSM3404153	21-Sep	.		ENST00000541714	Transcript				tight junction	protein binding	ENSG00000105289	g.chr19:3735631C>T	11829			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=ZO3_HUMAN&rb=270&re=394&var=R366W	NA	getma.org/?cm=var&var=hg19,19,3735631,C,T&fts=all	R366W	--	--	1																																		TJP3_uc010xhs.1_Missense_Mutation_p.R352W|TJP3_uc010xht.1_Missense_Mutation_p.R316W|TJP3_uc010xhu.1_Missense_Mutation_p.R361W|TJP3_uc010xhw.1_Missense_Mutation_p.R371W	0,1			benign(0)	p.R385W	NM_014428	NP_055243		tolerated(0.08)	0,1		TJP3	HGNC	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	F5H4S9_HUMAN,F5H2X0_HUMAN		8	1153	+			UPI000059D630	366					SNV	TJP3,missense_variant,p.Arg352Trp,ENST00000541714,NM_001267560.1;TJP3,missense_variant,p.Arg366Trp,ENST00000382008,;TJP3,missense_variant,p.Arg361Trp,ENST00000589378,NM_001267561.1;TJP3,missense_variant,p.Arg371Trp,ENST00000587686,;TJP3,missense_variant,p.Arg316Trp,ENST00000539908,;TJP3,missense_variant,p.Arg385Trp,ENST00000262968,;	uc010xhv.1	c.1153C>T	1516/3350	1	1			c.1153C>T						19	SNP	c.(1153-1155)CGG>TGG	1	1			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	tight junction protein 3			3735631		0.602	ENSG00000105289	15687	g.chr19:3735631C>T		tight junction	protein binding							-26.545155	KEEP	1	7	-1	82	98	1	7	-1	13.470432	82	98	0.044444	1	0	0	0	0	1	0	0	0	--	--		0	T			TJP3_uc010xhs.1_Missense_Mutation_p.R352W|TJP3_uc010xht.1_Missense_Mutation_p.R316W|TJP3_uc010xhu.1_Missense_Mutation_p.R361W|TJP3_uc010xhw.1_Missense_Mutation_p.R371W	87	GBM-06-2564-TP	p.R385W	C	AGATGAGCAACGGTCAGGTGG	NM_014428	NP_055243	3735631	O95049	ZO3_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1153	+	T	T			Missense_Mutation	366						
TJP3	0	broad.mit.edu	GRCh37	19	3728405	3728405	+	intron_variant	Intron	SNP	C	C	T			TCGA-26-5139-01	TCGA-26-5139-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000541714.2:c.-9-17C>T		*3*	ENST00000541714	NM_001267560.1			0			1			T		uc010xhv.1	protein_coding		CCDS32873.2			-/2760									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(31-33)CCC>CTC				tight junction protein 3				ENSP00000439278			1.65E-05					3.07E-05			rs781274210,COSM2157189		.		ENST00000541714	Transcript				tight junction	protein binding	ENSG00000105289	g.chr19:3728405C>T	11829			MODIFIER	20-Jan							--	--	1																																		TJP3_uc010xhs.1_Intron|TJP3_uc010xht.1_Intron|TJP3_uc010xhu.1_Intron|TJP3_uc010xhw.1_Missense_Mutation_p.P11L	0,1				p.P11L	NM_014428	NP_055243			0,1		TJP3	HGNC	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	F5H4S9_HUMAN,F5H2X0_HUMAN		1	32	+			UPI000059D630	Error:Variant_position_missing_in_O95049_after_alignment					SNV	TJP3,missense_variant,p.Pro11Leu,ENST00000587686,;TJP3,missense_variant,p.Pro11Leu,ENST00000262968,;TJP3,intron_variant,,ENST00000541714,NM_001267560.1;TJP3,intron_variant,,ENST00000382008,;TJP3,intron_variant,,ENST00000589378,NM_001267561.1;TJP3,intron_variant,,ENST00000539908,;TJP3,intron_variant,,ENST00000590545,;TJP3,intron_variant,,ENST00000587912,;	uc010xhv.1	c.32C>T	-/3350	2	2			c.32C>T						19	SNP	c.(31-33)CCC>CTC	42	42			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	tight junction protein 3			3728405		0.413	ENSG00000105289	15687	g.chr19:3728405C>T		tight junction	protein binding							73.764084	KEEP	18	17	-1	37	37	18	17	-1	76.487893	37	37	0.314607	1	0	0	0	0	1	0	0	0	--	--		0	T			TJP3_uc010xhs.1_Intron|TJP3_uc010xht.1_Intron|TJP3_uc010xhu.1_Intron|TJP3_uc010xhw.1_Missense_Mutation_p.P11L	186	GBM-26-5139-TP	p.P11L	C	CCCATCTTCCCCGCTCCCCTC	NM_014428	NP_055243	3728405	O95049	ZO3_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	1	32	+	T	T			Missense_Mutation	Error:Variant_position_missing_in_O95049_after_alignment						
TJP3	27134		GRCh37	19	3731941	3731941	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000589378.1:c.649G>A	p.Val217Ile	p.V217I	ENST00000589378	NM_001267561.1	217	Gtc/Atc	0																																																																																																																																																																																																																																												
TJP3	27134		GRCh37	19	3738562	3738562	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000589378.1:c.1321G>A	p.Val441Met	p.V441M	ENST00000589378	NM_001267561.1	441	Gtg/Atg	0																																																																																																																																																																																																																																												
TKTL1	0	broad.mit.edu	GRCh37	X	153543586	153543586	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01	TCGA-32-2494-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369915.3:c.928G>A	p.Val310Ile	p.V310I	ENST00000369915	NM_012253.3	310	Gtt/Att	0		A:0.0008	1	A:0		A	V/I	uc004fkg.2	protein_coding	YES	CCDS35448.1			928/1791									ovary(3)|skin(1)	4	c.(928-930)GTT>ATT			hmmpanther:PTHR11624,hmmpanther:PTHR11624:SF53,Pfam_domain:PF02779,Gene3D:3.40.50.970,SMART_domains:SM00861,Superfamily_domains:SSF52518	transketolase-like 1 isoform a		A:0		ENSP00000358931	A:0	13-Jul	4.94E-05	0.000352		0.000151					rs782811019,COSM3033807	13-Jul	.		ENST00000369915	Transcript		A:0.0003	glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	ENSG00000007350	g.chrX:153543586G>A	11835			MODERATE		0.565	neutral	getma.org/?cm=msa&ty=f&p=TKTL1_HUMAN&rb=287&re=453&var=V310I	getma.org/pdb.php?prot=TKTL1_HUMAN&from=287&to=453&var=V310I	getma.org/?cm=var&var=hg19,X,153543586,G,A&fts=all	V310I	--	--	1																																		TKTL1_uc011mzl.1_Missense_Mutation_p.V304I|TKTL1_uc011mzm.1_Missense_Mutation_p.V106I|TKTL1_uc004fkh.2_Missense_Mutation_p.V254I	0,1	1		benign(0.012)	p.V310I	NM_012253	NP_036385	A:0	tolerated(0.84)	0,1	TKTL1_HUMAN	TKTL1	HGNC	P51854	TKTL1_HUMAN			Q5TYJ8_HUMAN,B7Z7I0_HUMAN		7	1114	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		UPI0000211D08	310					SNV	TKTL1,missense_variant,p.Val310Ile,ENST00000369915,NM_012253.3,NM_001145933.1;TKTL1,missense_variant,p.Val254Ile,ENST00000369912,NM_001145934.1;TKTL1,missense_variant,p.Val50Ile,ENST00000217905,;TKTL1,downstream_gene_variant,,ENST00000426989,;TKTL1,downstream_gene_variant,,ENST00000426203,;TKTL1,downstream_gene_variant,,ENST00000439635,;	uc004fkg.2	c.928G>A	1117/2642	1	1			c.928G>A						23	SNP	c.(928-930)GTT>ATT	55	55			ovary(3)|skin(1)	4	Broad	transketolase-like 1 isoform a			153543586		0.483	ENSG00000007350	15691	g.chrX:153543586G>A	glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity							132.275636	KEEP	28	29	-1	86	92	28	29	-1	143.969581	86	92	0.252381	1	0	0	0	0	1	0	0	0	--	--		0	A			TKTL1_uc011mzl.1_Missense_Mutation_p.V304I|TKTL1_uc011mzm.1_Missense_Mutation_p.V106I|TKTL1_uc004fkh.2_Missense_Mutation_p.V254I	236	GBM-32-2494-TP	p.V310I	G	CAACAGAGTCGTTGTGCTGGA	NM_012253	NP_036385	153543586	P51854	TKTL1_HUMAN	0			7	1114	+	A	A	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		Missense_Mutation	310						
TKTL2	0	broad.mit.edu	GRCh37	4	164394680	164394680	+	synonymous_variant	Silent	SNP	G	G	A	rs114941835	by1000genomes	TCGA-32-1979-01	TCGA-32-1979-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000280605.3:c.207C>T	p.Asn69=	p.N69=	ENST00000280605	NM_032136.4	69	aaC/aaT	0		A:0	1	A:0		A	N	uc003iqp.3	protein_coding	YES	CCDS3805.1			207/1881									ovary(2)|skin(2)|pancreas(1)	5	c.(205-207)AAC>AAT			hmmpanther:PTHR11624,hmmpanther:PTHR11624:SF49,Gene3D:3.40.50.970,Pfam_domain:PF00456,Superfamily_domains:SSF52518	transketolase-like 2		A:0		ENSP00000280605	A:0.001	1-Jan									rs114941835,COSM3409148	1-Jan	.		ENST00000280605	Transcript		A:0.0002		cytoplasm	metal ion binding|transketolase activity	ENSG00000151005	g.chr4:164394680G>A	25313			LOW								--	--	1																																			0,1	1			p.N69N	NM_032136	NP_115512	A:0		0,1	TKTL2_HUMAN	TKTL2	HGNC	Q9H0I9	TKTL2_HUMAN			Q96LZ0_HUMAN,Q8ND81_HUMAN		1	368	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	UPI0000037C67	69					SNV	TKTL2,synonymous_variant,p.=,ENST00000280605,NM_032136.4;	uc003iqp.3	c.207C>T	368/2791	2	2			c.207C>T						4	SNP	c.(205-207)AAC>AAT	20	20			ovary(2)|skin(2)|pancreas(1)	5	Broad	transketolase-like 2			164394680		0.557	ENSG00000151005	15692	g.chr4:164394680G>A		cytoplasm	metal ion binding|transketolase activity							29.010614	KEEP	6	5	-1	18	13	6	5	-1	30.369896	18	13	0.297297	1	0	0	0	0	0	0	1	0	--	--		0	A				230	GBM-32-1979-TP	p.N69N	G	TGAACCGGTCGTTGTCCGGGT	NM_032136	NP_115512	164394680	Q9H0I9	TKTL2_HUMAN	0			1	368	-	A	A	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	Silent	69						
TLDC1	0	broad.mit.edu	GRCh37	16	84529371	84529371	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs146039021		TCGA-14-1034-01	TCGA-14-1034-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343629.6:c.302G>A	p.Gly101Glu	p.G101E	ENST00000343629	NM_020947.3	101	gGa/gAa	0	T:0		1			T	G/E	uc002fib.2	protein_coding	YES	CCDS32498.1			302/1371									ovary(2)	2	c.(301-303)GGA>GAA			hmmpanther:PTHR23354,hmmpanther:PTHR23354:SF66	hypothetical protein LOC57707			T:0.0001	ENSP00000343635		8-Mar	3.29E-05	9.61E-05				4.50E-05			rs146039021,COSM2155199	8-Mar	.		ENST00000343629	Transcript					protein binding	ENSG00000140950	g.chr16:84529371C>T	29325			MODERATE		2.33	medium	getma.org/?cm=msa&ty=f&p=K1609_HUMAN&rb=1&re=234&var=G101E	NA	getma.org/?cm=var&var=hg19,16,84529371,C,T&fts=all	G101E	--	--	1																																		KIAA1609_uc010vod.1_Missense_Mutation_p.G74E|KIAA1609_uc002fic.2_RNA	0,1	1		probably_damaging(0.962)	p.G101E	NM_020947	NP_065998		deleterious(0)	0,1	TLDC1_HUMAN	TLDC1	HGNC	Q6P9B6	K1609_HUMAN			H3BUB0_HUMAN,H3BTC5_HUMAN,H3BQ13_HUMAN,B4DM09_HUMAN		3	409	-			UPI00001BBB2E	101					SNV	TLDC1,missense_variant,p.Gly101Glu,ENST00000343629,NM_020947.3;TLDC1,missense_variant,p.Gly74Glu,ENST00000535580,;TLDC1,missense_variant,p.Gly101Glu,ENST00000565079,;TLDC1,downstream_gene_variant,,ENST00000562447,;TLDC1,downstream_gene_variant,,ENST00000565765,;RP11-517C16.4,non_coding_transcript_exon_variant,,ENST00000568771,;TLDC1,non_coding_transcript_exon_variant,,ENST00000561807,;TLDC1,missense_variant,p.Gly101Glu,ENST00000566995,;TLDC1,3_prime_UTR_variant,,ENST00000570036,;TLDC1,downstream_gene_variant,,ENST00000565701,;	uc002fib.2	c.302G>A	485/3392	2	2			c.302G>A						16	SNP	c.(301-303)GGA>GAA	24	24			ovary(2)	2	Broad	hypothetical protein LOC57707			84529371		0.542	ENSG00000140950	8108	g.chr16:84529371C>T			protein binding							103.069365	KEEP	32	11	-1	60	51	32	11	-1	109.561114	60	51	0.274648	1	0	0	0	0	1	0	0	0	--	--		0	T			KIAA1609_uc010vod.1_Missense_Mutation_p.G74E|KIAA1609_uc002fic.2_RNA	142	GBM-14-1034-TP	p.G101E	C	CTCGGAGTTTCCTTTCAACAG	NM_020947	NP_065998	84529371	Q6P9B6	K1609_HUMAN	0			3	409	-	T	T			Missense_Mutation	101						
TLE1	0	broad.mit.edu	GRCh37	9	84200544	84200544	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2631-01	TCGA-19-2631-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376499.3:c.2004C>T	p.Thr668=	p.T668=	ENST00000376499	NM_005077.3	668	acC/acT	0			1			A	T	uc004aly.2	protein_coding	YES	CCDS6661.1			2004/2313									ovary(1)|skin(1)	2	c.(2002-2004)ACC>ACT			Gene3D:2.130.10.10,hmmpanther:PTHR10814,SMART_domains:SM00320,Superfamily_domains:SSF50978	transducin-like enhancer protein 1				ENSP00000365682		18/20	2.47E-05					3.01E-05		6.08E-05	rs2229270,COSM2156435	18/20	.		ENST00000376499	Transcript			negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	ENSG00000196781	g.chr9:84200544G>A	11837			LOW								--	--	1																																		TLE1_uc004alz.2_Silent_p.T678T|TLE1_uc011lsr.1_Silent_p.T653T	0,1	1			p.T668T	NM_005077	NP_005068			0,1	TLE1_HUMAN	TLE1	HGNC	Q04724	TLE1_HUMAN					18	2445	-			UPI0000137034	668					SNV	TLE1,synonymous_variant,p.=,ENST00000376499,NM_005077.3;	uc004aly.2	c.2004C>T	3069/3893	2	2			c.2004C>T						9	SNP	c.(2002-2004)ACC>ACT	21	21			ovary(1)|skin(1)	2	Broad	transducin-like enhancer protein 1			84200544		0.557	ENSG00000196781	15694	g.chr9:84200544G>A	negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)		350	NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)		350	12.828348	KEEP	3	12	-1	22	28	3	12	-1	16.619698	22	28	0.166667	1	0	0	0	0	0	0	1	0	--	--		0	A			TLE1_uc004alz.2_Silent_p.T678T|TLE1_uc011lsr.1_Silent_p.T653T	167	GBM-19-2631-TP	p.T668T	G	GCCACTCCCCGGTGGGGCAGT	NM_005077	NP_005068	84200544	Q04724	TLE1_HUMAN	0			18	2445	-	A	A			Silent	668						
TLE2	0	broad.mit.edu	GRCh37	19	3005947	3005947	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1034-01	TCGA-14-1034-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262953.6:c.1520G>A	p.Arg507His	p.R507H	ENST00000262953	NM_003260.4	507	cGt/cAt	0			1			T	R/H	uc002lww.2	protein_coding	YES	CCDS45911.1			1520/2232										0	c.(1519-1521)CGT>CAT			PROSITE_profiles:PS50294,hmmpanther:PTHR10814:SF4,hmmpanther:PTHR10814,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	transducin-like enhancer protein 2 isoform 1				ENSP00000262953		16/20									COSM3404073	16/20	.		ENST00000262953	Transcript			negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	ENSG00000065717	g.chr19:3005947C>T	11838			MODERATE		2.42	medium	getma.org/?cm=msa&ty=f&p=TLE2_HUMAN&rb=485&re=537&var=R507H	getma.org/pdb.php?prot=TLE2_HUMAN&from=485&to=537&var=R507H	getma.org/?cm=var&var=hg19,19,3005947,C,T&fts=all	R507H	--	--	1																																		TLE2_uc010xhb.1_Missense_Mutation_p.R174H|TLE2_uc010dth.2_Missense_Mutation_p.R508H|TLE2_uc010xhc.1_Missense_Mutation_p.R385H|TLE2_uc010dti.2_Missense_Mutation_p.R521H	1	1		probably_damaging(0.969)	p.R507H	NM_003260	NP_003251		deleterious(0.01)	1	TLE2_HUMAN	TLE2	HGNC	Q04725	TLE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)			16	1783	-			UPI0000137038	507			WD 2.		SNV	TLE2,missense_variant,p.Arg507His,ENST00000262953,NM_003260.4;TLE2,missense_variant,p.Arg174His,ENST00000447365,;TLE2,missense_variant,p.Arg521His,ENST00000591529,NM_001144761.1;TLE2,missense_variant,p.Arg508His,ENST00000590536,;TLE2,missense_variant,p.Arg385His,ENST00000455444,;TLE2,missense_variant,p.Arg385His,ENST00000443826,NM_001144762.1;TLE2,missense_variant,p.Arg521His,ENST00000426948,;TLE2,missense_variant,p.Arg156His,ENST00000589364,;TLE2,intron_variant,,ENST00000586422,;TLE2,non_coding_transcript_exon_variant,,ENST00000586492,;TLE2,downstream_gene_variant,,ENST00000589205,;TLE2,downstream_gene_variant,,ENST00000587672,;	uc002lww.2	c.1520G>A	1783/2705	1	1			c.1520G>A						19	SNP	c.(1519-1521)CGT>CAT	7	7				0	Broad	transducin-like enhancer protein 2 isoform 1			3005947		0.632	ENSG00000065717	15695	g.chr19:3005947C>T	negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity							31.782169	KEEP	10	7	-1	36	40	10	7	-1	38.265532	36	40	0.197368	1	0	0	0	0	1	0	0	0	--	--		0	T			TLE2_uc010xhb.1_Missense_Mutation_p.R174H|TLE2_uc010dth.2_Missense_Mutation_p.R508H|TLE2_uc010xhc.1_Missense_Mutation_p.R385H|TLE2_uc010dti.2_Missense_Mutation_p.R521H	142	GBM-14-1034-TP	p.R507H	C	CTTGCAGGAACGAATGTAGTT	NM_003260	NP_003251	3005947	Q04725	TLE2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	16	1783	-	T	T			Missense_Mutation	507			WD 2.			
TLE2	0	broad.mit.edu	GRCh37	19	3013710	3013710	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01	TCGA-32-4211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262953.6:c.830C>T	p.Ser277Phe	p.S277F	ENST00000262953	NM_003260.4	277	tCt/tTt	0			1			A	S/F	uc002lww.2	protein_coding	YES	CCDS45911.1			830/2232										0	c.(829-831)TCT>TTT			Low_complexity_(Seg):seg,hmmpanther:PTHR10814:SF4,hmmpanther:PTHR10814	transducin-like enhancer protein 2 isoform 1				ENSP00000262953		20-Nov	8.27E-06					1.55E-05			rs771368337,COSM3404074	20-Nov	.		ENST00000262953	Transcript			negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	ENSG00000065717	g.chr19:3013710G>A	11838			MODERATE		2.325	medium	getma.org/?cm=msa&ty=f&p=TLE2_HUMAN&rb=133&re=332&var=S277F	NA	getma.org/?cm=var&var=hg19,19,3013710,G,A&fts=all	S277F	--	--	1																																		TLE2_uc010xhb.1_5'UTR|TLE2_uc010dth.2_Missense_Mutation_p.S278F|TLE2_uc010xhc.1_Missense_Mutation_p.S155F|TLE2_uc010dti.2_Missense_Mutation_p.S291F|TLE2_uc010xhd.1_Missense_Mutation_p.S185F	0,1	1		probably_damaging(0.999)	p.S277F	NM_003260	NP_003251		deleterious(0.01)	0,1	TLE2_HUMAN	TLE2	HGNC	Q04725	TLE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)			11	1093	-			UPI0000137038	277			Pro/Ser-rich.		SNV	TLE2,missense_variant,p.Ser277Phe,ENST00000262953,NM_003260.4;TLE2,missense_variant,p.Ser291Phe,ENST00000591529,NM_001144761.1;TLE2,missense_variant,p.Ser278Phe,ENST00000590536,;TLE2,missense_variant,p.Ser155Phe,ENST00000455444,;TLE2,missense_variant,p.Ser155Phe,ENST00000443826,NM_001144762.1;TLE2,missense_variant,p.Ser291Phe,ENST00000426948,;TLE2,5_prime_UTR_variant,,ENST00000447365,;TLE2,intron_variant,,ENST00000589364,;TLE2,intron_variant,,ENST00000586422,;TLE2,downstream_gene_variant,,ENST00000587137,;TLE2,downstream_gene_variant,,ENST00000591457,;TLE2,non_coding_transcript_exon_variant,,ENST00000589205,;TLE2,downstream_gene_variant,,ENST00000587217,;TLE2,downstream_gene_variant,,ENST00000589291,;TLE2,downstream_gene_variant,,ENST00000590183,;TLE2,upstream_gene_variant,,ENST00000586492,;TLE2,non_coding_transcript_exon_variant,,ENST00000587672,;TLE2,downstream_gene_variant,,ENST00000590101,;	uc002lww.2	c.830C>T	1093/2705	2	2			c.830C>T						19	SNP	c.(829-831)TCT>TTT	23	23				0	Broad	transducin-like enhancer protein 2 isoform 1			3013710		0.642	ENSG00000065717	15695	g.chr19:3013710G>A	negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity							49.652693	KEEP	15	8	-1	50	33	15	8	-1	55.850114	50	33	0.224719	1	0	0	0	0	1	0	0	0	--	--		0	A			TLE2_uc010xhb.1_5'UTR|TLE2_uc010dth.2_Missense_Mutation_p.S278F|TLE2_uc010xhc.1_Missense_Mutation_p.S155F|TLE2_uc010dti.2_Missense_Mutation_p.S291F|TLE2_uc010xhd.1_Missense_Mutation_p.S185F	246	GBM-32-4211-TP	p.S277F	G	GCCAAGGCTAGAGGCCAAGGA	NM_003260	NP_003251	3013710	Q04725	TLE2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1093	-	A	A			Missense_Mutation	277			Pro/Ser-rich.			
TLE4	7091	broad.mit.edu	GRCh37	9	82324566	82324566	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0238-01	TCGA-06-0238-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376552.2:c.1292G>A	p.Arg431His	p.R431H	ENST00000376552	NM_007005.3	431	cGt/cAt	0			1			A	R/H	uc004ald.2	protein_coding	YES	CCDS43837.1			1292/2322									lung(2)|ovary(1)|breast(1)|skin(1)	5	c.(1366-1368)CGT>CAT			hmmpanther:PTHR10814,hmmpanther:PTHR10814:SF21	transducin-like enhancer protein 4				ENSP00000365735		14/20									COSM1229346,COSM1229347	14/20	.		ENST00000376552	Transcript						ENSG00000106829	g.chr9:82324566G>A	11840			MODERATE		3.03	medium	getma.org/?cm=msa&ty=f&p=TLE4_HUMAN&rb=342&re=479&var=R431H	NA	getma.org/?cm=var&var=hg19,9,82324566,G,A&fts=all	R431H	--	--	1																																		TLE4_uc004alc.2_Missense_Mutation_p.R431H|TLE4_uc010mpr.2_Missense_Mutation_p.R310H|TLE4_uc004ale.2_Missense_Mutation_p.R68H|TLE4_uc011lsq.1_Missense_Mutation_p.R399H|TLE4_uc010mps.2_Missense_Mutation_p.R355H|TLE4_uc004alf.2_Missense_Mutation_p.R370H	1,1	1		probably_damaging(0.999)	p.R456H	NM_007005	NP_008936		deleterious(0.01)	1,1	TLE4_HUMAN	TLE4	HGNC	O60756	BCE1_HUMAN			B3KQ29_HUMAN		15	2216	+			UPI00001CE3BA	Error:Variant_position_missing_in_O60756_after_alignment					SNV	TLE4,missense_variant,p.Arg463His,ENST00000376520,;TLE4,missense_variant,p.Arg362His,ENST00000376544,NM_001282753.1;TLE4,missense_variant,p.Arg431His,ENST00000376552,NM_007005.3;TLE4,missense_variant,p.Arg68His,ENST00000376534,;TLE4,missense_variant,p.Arg463His,ENST00000376537,NM_001282748.1;TLE4,missense_variant,p.Arg406His,ENST00000265284,NM_001282749.1;TLE4,missense_variant,p.Arg222His,ENST00000496114,;TLE4,missense_variant,p.Arg196His,ENST00000417836,;TLE4,missense_variant,p.Arg159His,ENST00000467142,;TLE4,downstream_gene_variant,,ENST00000428713,;TLE4,downstream_gene_variant,,ENST00000490347,;TLE4,non_coding_transcript_exon_variant,,ENST00000478290,;TLE4,downstream_gene_variant,,ENST00000463431,;TLE4,3_prime_UTR_variant,,ENST00000470872,;TLE4,3_prime_UTR_variant,,ENST00000462803,;TLE4,downstream_gene_variant,,ENST00000495170,;	uc004ald.2	c.1367G>A	2310/3695	2	2			c.1367G>A						9	SNP	c.(1366-1368)CGT>CAT	28	28			lung(2)|ovary(1)|breast(1)|skin(1)	5	Broad	transducin-like enhancer protein 4			82324566		0.438	ENSG00000106829	15697	g.chr9:82324566G>A										-9.371043	KEEP	4	1	-1	48	47	4	1	-1	8.649818	48	47	0.048193	1	0	0	0	0	1	0	0	0	--	--		0	A			TLE4_uc004alc.2_Missense_Mutation_p.R431H|TLE4_uc010mpr.2_Missense_Mutation_p.R310H|TLE4_uc004ale.2_Missense_Mutation_p.R68H|TLE4_uc011lsq.1_Missense_Mutation_p.R399H|TLE4_uc010mps.2_Missense_Mutation_p.R355H|TLE4_uc004alf.2_Missense_Mutation_p.R370H	55	GBM-06-0238-TP	p.R456H	G	CATCACATGCGTGTGCCAGCA	NM_007005	NP_008936	82324566	O60756	BCE1_HUMAN	0			15	2216	+	A	A			Missense_Mutation	Error:Variant_position_missing_in_O60756_after_alignment						
TLE4	0	broad.mit.edu	GRCh37	9	82227600	82227600	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-2629-01	TCGA-19-2629-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376552.2:c.282C>T	p.Ile94=	p.I94=	ENST00000376552	NM_007005.3	94	atC/atT	0			1			T	I	uc004ald.2	protein_coding	YES	CCDS43837.1			282/2322									lung(2)|ovary(1)|breast(1)|skin(1)	5	c.(259-261)ATC>ATT			hmmpanther:PTHR10814,hmmpanther:PTHR10814:SF21,Pfam_domain:PF03920	transducin-like enhancer protein 4				ENSP00000365735		20-May									COSM3413748,COSM3413749	20-May	.		ENST00000376552	Transcript						ENSG00000106829	g.chr9:82227600C>T	11840			LOW								--	--	1																																		TLE4_uc004alc.2_Silent_p.I94I|TLE4_uc010mpr.2_5'UTR|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Silent_p.I87I|TLE4_uc010mps.2_Silent_p.I87I|TLE4_uc004alf.2_Silent_p.I32I	1,1	1			p.I87I	NM_007005	NP_008936			1,1	TLE4_HUMAN	TLE4	HGNC	O60756	BCE1_HUMAN			B3KQ29_HUMAN		5	1110	+			UPI00001CE3BA	Error:Variant_position_missing_in_O60756_after_alignment					SNV	TLE4,synonymous_variant,p.=,ENST00000376520,;TLE4,synonymous_variant,p.=,ENST00000376544,NM_001282753.1;TLE4,synonymous_variant,p.=,ENST00000376552,NM_007005.3;TLE4,synonymous_variant,p.=,ENST00000376537,NM_001282748.1;TLE4,synonymous_variant,p.=,ENST00000265284,NM_001282749.1;TLE4,synonymous_variant,p.=,ENST00000428713,;TLE4,synonymous_variant,p.=,ENST00000435650,;TLE4,synonymous_variant,p.=,ENST00000425506,;TLE4,synonymous_variant,p.=,ENST00000414465,;TLE4,5_prime_UTR_variant,,ENST00000376534,;TLE4,non_coding_transcript_exon_variant,,ENST00000455913,;TLE4,non_coding_transcript_exon_variant,,ENST00000496853,;TLE4,non_coding_transcript_exon_variant,,ENST00000474519,;TLE4,intron_variant,,ENST00000483597,;TLE4,synonymous_variant,p.=,ENST00000462803,;TLE4,3_prime_UTR_variant,,ENST00000470872,;TLE4,non_coding_transcript_exon_variant,,ENST00000485159,;TLE4,non_coding_transcript_exon_variant,,ENST00000466428,;	uc004ald.2	c.261C>T	1300/3695	2	2			c.261C>T						9	SNP	c.(259-261)ATC>ATT	20	20			lung(2)|ovary(1)|breast(1)|skin(1)	5	Broad	transducin-like enhancer protein 4			82227600		0.408	ENSG00000106829	15697	g.chr9:82227600C>T										-47.500658	KEEP	1	3	-1	129	117	1	3	-1	7.408363	129	117	0.018957	1	0	0	0	0	0	0	1	0	--	--		0	T			TLE4_uc004alc.2_Silent_p.I94I|TLE4_uc010mpr.2_5'UTR|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Silent_p.I87I|TLE4_uc010mps.2_Silent_p.I87I|TLE4_uc004alf.2_Silent_p.I32I	166	GBM-19-2629-TP	p.I87I	C	TGAATGCTATCTGTGCACAAG	NM_007005	NP_008936	82227600	O60756	BCE1_HUMAN	0			5	1110	+	T	T			Silent	Error:Variant_position_missing_in_O60756_after_alignment						
TLK1	9874	broad.mit.edu	GRCh37	2	171902709	171902710	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	GG			TCGA-06-5418-01	TCGA-06-5418-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000431350.2:c.1142_1143dup	p.Phe382ProfsTer11	p.F382Pfs*11	ENST00000431350		381	-/CC	0			1			GG	-/X	uc002ugn.2	protein_coding	YES	CCDS2241.1			1143-1144/2301									central_nervous_system(1)	1	c.(1141-1146)CCCTTTfs			hmmpanther:PTHR22974,hmmpanther:PTHR22974:SF22	tousled-like kinase 1 isoform 1				ENSP00000411099		21-Nov										21-Nov	.		ENST00000431350	Transcript			cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	ENSG00000198586	g.chr2:171902709_171902710insGG	11841			HIGH								--	--	1																																		TLK1_uc002ugo.2_Frame_Shift_Ins_p.P402fs|TLK1_uc002ugp.2_Frame_Shift_Ins_p.P333fs|TLK1_uc002ugq.2_RNA|TLK1_uc010zdn.1_Frame_Shift_Ins_p.P285fs|TLK1_uc002ugr.1_Frame_Shift_Ins_p.P164fs		1			p.P381fs	NM_012290	NP_036422				TLK1_HUMAN	TLK1	HGNC	Q9UKI8	TLK1_HUMAN			Q53TF9_HUMAN,Q53TE4_HUMAN		11	1615_1616	-			UPI0000073255	381_382					insertion	TLK1,frameshift_variant,p.Phe334ProfsTer11,ENST00000442919,NM_012290.4;TLK1,frameshift_variant,p.Phe403ProfsTer11,ENST00000360843,;TLK1,frameshift_variant,p.Phe382ProfsTer11,ENST00000431350,;TLK1,frameshift_variant,p.Phe334ProfsTer11,ENST00000521943,NM_001136554.1;TLK1,frameshift_variant,p.Phe286ProfsTer11,ENST00000434911,NM_001136555.1;TLK1,intron_variant,,ENST00000413010,;TLK1,frameshift_variant,p.Phe382ProfsTer11,ENST00000409443,;TLK1,3_prime_UTR_variant,,ENST00000359766,;TLK1,non_coding_transcript_exon_variant,,ENST00000478683,;	uc002ugn.2	c.1143_1144insCC	1548-1549/5663	5	5			c.1143_1144insCC						2	INS	c.(1141-1146)CCCTTTfs	13	13			central_nervous_system(1)	1	Broad	tousled-like kinase 1 isoform 1			171902710		0.366	ENSG00000198586	15699	g.chr2:171902709_171902710insGG	cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			247			247														0.34	1	0	0	1	1	0	0	0	0	--	--		0	GG			TLK1_uc002ugo.2_Frame_Shift_Ins_p.P402fs|TLK1_uc002ugp.2_Frame_Shift_Ins_p.P333fs|TLK1_uc002ugq.2_RNA|TLK1_uc010zdn.1_Frame_Shift_Ins_p.P285fs|TLK1_uc002ugr.1_Frame_Shift_Ins_p.P164fs	100	GBM-06-5418-TP	p.P381fs	-	GGTCTAACAAAGGGATCATTCT	NM_012290	NP_036422	171902709	Q9UKI8	TLK1_HUMAN	0			11	1615_1616	-	GG	GG			Frame_Shift_Ins	381_382						
TLK2	11011	broad.mit.edu	GRCh37	17	60679467	60679467	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0939-01	TCGA-06-0939-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000346027.5:c.1785G>A	p.Ser595=	p.S595=	ENST00000346027	NM_006852.3	595	tcG/tcA	0			1			A	S	uc010ddp.2	protein_coding		CCDS62283.1			1851/2319									stomach(1)|kidney(1)	2	c.(1849-1851)TCG>TCA			Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR22974,hmmpanther:PTHR22974:SF20,SMART_domains:SM00220,Superfamily_domains:SSF56112	tousled-like kinase 2 isoform A				ENSP00000316512		20/23									COSM2152430,COSM2152431,COSM2152429	20/23	.		ENST00000326270	Transcript			cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	ENSG00000146872	g.chr17:60679467G>A	11842			LOW								--	--	1																																		TLK2_uc002izx.3_Silent_p.S443S|TLK2_uc002izz.3_Silent_p.S595S|TLK2_uc002jaa.3_Silent_p.S563S|TLK2_uc010wpd.1_Silent_p.S563S	1,1,1				p.S617S	NM_006852	NP_006843			1,1,1	TLK2_HUMAN	TLK2	HGNC	Q86UE8	TLK2_HUMAN			J3QS73_HUMAN,J3QQN4_HUMAN,J3KST4_HUMAN		20	2119	+			UPI00001B6B0E	617			Protein kinase.		SNV	TLK2,synonymous_variant,p.=,ENST00000582809,;TLK2,synonymous_variant,p.=,ENST00000326270,NM_001284333.1;TLK2,synonymous_variant,p.=,ENST00000346027,NM_006852.3;TLK2,synonymous_variant,p.=,ENST00000343388,NM_001112707.1,NM_001284363.1;TLK2,synonymous_variant,p.=,ENST00000542523,;TLK2,synonymous_variant,p.=,ENST00000581041,;TLK2,non_coding_transcript_exon_variant,,ENST00000578931,;TLK2,downstream_gene_variant,,ENST00000582660,;TLK2,upstream_gene_variant,,ENST00000583310,;	uc010ddp.2	c.1851G>A	2119/3512	1	1			c.1851G>A						17	SNP	c.(1849-1851)TCG>TCA	55	55			stomach(1)|kidney(1)	2	Broad	tousled-like kinase 2 isoform A			60679467		0.383	ENSG00000146872	15700	g.chr17:60679467G>A	cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			505			505	79.228372	KEEP	18	21	-1	75	56	18	21	-1	88.314976	75	56	0.231884	1	0	0	0	0	0	0	1	0	--	--		0	A			TLK2_uc002izx.3_Silent_p.S443S|TLK2_uc002izz.3_Silent_p.S595S|TLK2_uc002jaa.3_Silent_p.S563S|TLK2_uc010wpd.1_Silent_p.S563S	78	GBM-06-0939-TP	p.S617S	G	TTGGTCTTTCGAAGATCATGG	NM_006852	NP_006843	60679467	Q86UE8	TLK2_HUMAN	0			20	2119	+	A	A			Silent	617			Protein kinase.			
TLL1	7092	broad.mit.edu	GRCh37	4	166960565	166960565	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0648-01	TCGA-06-0648-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000061240.2:c.1233C>T	p.Asp411=	p.D411=	ENST00000061240	NM_012464.4	411	gaC/gaT	0			1			T	D	uc003irh.1	protein_coding	YES	CCDS3811.1			1233/3042									skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	c.(1231-1233)GAC>GAT			Gene3D:2.60.120.290,Pfam_domain:PF00431,PIRSF_domain:PIRSF001199,PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF304,SMART_domains:SM00042,Superfamily_domains:SSF49854	tolloid-like 1 precursor				ENSP00000061240		21-Oct	1.65E-05		8.74E-05					6.07E-05	rs764830976,COSM1428414	21-Oct	.		ENST00000061240	Transcript	1		cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	ENSG00000038295	g.chr4:166960565C>T	11843			LOW								--	--	1																																		TLL1_uc011cjn.1_Silent_p.D411D|TLL1_uc011cjo.1_Silent_p.D235D	0,1	1			p.D411D	NM_012464	NP_036596			0,1	TLL1_HUMAN	TLL1	HGNC	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	D6RCE0_HUMAN		10	1880	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	UPI0000072EED	411			CUB 1.		SNV	TLL1,synonymous_variant,p.=,ENST00000061240,NM_012464.4;TLL1,synonymous_variant,p.=,ENST00000507499,;TLL1,3_prime_UTR_variant,,ENST00000509505,;	uc003irh.1	c.1233C>T	1880/6708	2	2			c.1233C>T						4	SNP	c.(1231-1233)GAC>GAT	29	29			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Broad	tolloid-like 1 precursor			166960565		0.388	ENSG00000038295	15701	g.chr4:166960565C>T	cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding							101.428627	KEEP	21	18	-1	35	38	21	18	-1	103.115986	35	38	0.357895	1	0	0	0	0	0	0	1	0	--	--		0	T			TLL1_uc011cjn.1_Silent_p.D411D|TLL1_uc011cjo.1_Silent_p.D235D	61	GBM-06-0648-TP	p.D411D	C	AAGTAAGAGACGGGTACTGGA	NM_012464	NP_036596	166960565	O43897	TLL1_HUMAN	0		GBM - Glioblastoma multiforme(119;0.103)	10	1880	+	T	T	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	Silent	411			CUB 1.			
TLL1	0	broad.mit.edu	GRCh37	4	166978363	166978363	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs141877254		TCGA-12-0821-01	TCGA-12-0821-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000061240.2:c.1748G>A	p.Arg583His	p.R583H	ENST00000061240	NM_012464.4	583	cGt/cAt	0	A:0	A:0	1	A:0		A	R/H	uc003irh.1	protein_coding	YES	CCDS3811.1			1748/3042									skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	c.(1747-1749)CGT>CAT			Gene3D:2.10.25.10,Pfam_domain:PF14670,PIRSF_domain:PIRSF001199,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF304,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196	tolloid-like 1 precursor		A:0.002	A:0.0001	ENSP00000061240	A:0	14/21	0.000173			0.00151		7.50E-05		0.000182	rs141877254,COSM3409153	14/21	common_variant		ENST00000061240	Transcript	1	A:0.0006	cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	ENSG00000038295	g.chr4:166978363G>A	11843			MODERATE		0.625	neutral	getma.org/?cm=msa&ty=f&p=TLL1_HUMAN&rb=575&re=614&var=R583H	getma.org/pdb.php?prot=TLL1_HUMAN&from=575&to=614&var=R583H	getma.org/?cm=var&var=hg19,4,166978363,G,A&fts=all	R583H	--	--	1																																		TLL1_uc011cjn.1_Missense_Mutation_p.R606H|TLL1_uc011cjo.1_Missense_Mutation_p.R407H	0,1	1		benign(0.005)	p.R583H	NM_012464	NP_036596	A:0.001	tolerated(1)	0,1	TLL1_HUMAN	TLL1	HGNC	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	D6RCE0_HUMAN		14	2395	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	UPI0000072EED	583			EGF-like 1; calcium-binding (Potential).		SNV	TLL1,missense_variant,p.Arg583His,ENST00000061240,NM_012464.4;TLL1,missense_variant,p.Arg606His,ENST00000507499,;RNA5SP170,upstream_gene_variant,,ENST00000517150,;TLL1,3_prime_UTR_variant,,ENST00000509505,;	uc003irh.1	c.1748G>A	2395/6708	1	1			c.1748G>A						4	SNP	c.(1747-1749)CGT>CAT	50	50			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Broad	tolloid-like 1 precursor			166978363		0.438	ENSG00000038295	15701	g.chr4:166978363G>A	cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding							370.9493	KEEP	98	46	-1	140	82	98	46	-1	373.200478	140	82	0.407895	1	0	0	0	0	1	0	0	0	--	--		0	A			TLL1_uc011cjn.1_Missense_Mutation_p.R606H|TLL1_uc011cjo.1_Missense_Mutation_p.R407H	123	GBM-12-0821-TP	p.R583H	G	AAACCTGACCGTGGAGGCTGT	NM_012464	NP_036596	166978363	O43897	TLL1_HUMAN	0		GBM - Glioblastoma multiforme(119;0.103)	14	2395	+	A	A	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	Missense_Mutation	583			EGF-like 1; calcium-binding (Potential).			
TLL1	0	broad.mit.edu	GRCh37	4	166963247	166963247	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1034-01	TCGA-14-1034-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000061240.2:c.1330C>T	p.Arg444Cys	p.R444C	ENST00000061240	NM_012464.4	444	Cgt/Tgt	0			1			T	R/C	uc003irh.1	protein_coding	YES	CCDS3811.1			1330/3042									skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	c.(1330-1332)CGT>TGT			Gene3D:2.60.120.290,Pfam_domain:PF00431,PIRSF_domain:PIRSF001199,PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF304,SMART_domains:SM00042,Superfamily_domains:SSF49854	tolloid-like 1 precursor				ENSP00000061240		21-Nov									COSM233585	21-Nov	.		ENST00000061240	Transcript	1		cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	ENSG00000038295	g.chr4:166963247C>T	11843			MODERATE		3.585	high	getma.org/?cm=msa&ty=f&p=TLL1_HUMAN&rb=349&re=458&var=R444C	getma.org/pdb.php?prot=TLL1_HUMAN&from=349&to=458&var=R444C	getma.org/?cm=var&var=hg19,4,166963247,C,T&fts=all	R444C	--	--	1																																		TLL1_uc011cjn.1_Missense_Mutation_p.R444C|TLL1_uc011cjo.1_Missense_Mutation_p.R268C	1	1		possibly_damaging(0.662)	p.R444C	NM_012464	NP_036596		deleterious(0.01)	1	TLL1_HUMAN	TLL1	HGNC	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	D6RCE0_HUMAN		11	1977	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	UPI0000072EED	444			CUB 1.		SNV	TLL1,missense_variant,p.Arg444Cys,ENST00000061240,NM_012464.4;TLL1,missense_variant,p.Arg444Cys,ENST00000507499,;TLL1,3_prime_UTR_variant,,ENST00000509505,;	uc003irh.1	c.1330C>T	1977/6708	1	1			c.1330C>T						4	SNP	c.(1330-1332)CGT>TGT	2	2			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Broad	tolloid-like 1 precursor			166963247		0.368	ENSG00000038295	15701	g.chr4:166963247C>T	cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding							216.589577	KEEP	38	41	-1	72	77	38	41	-1	220.850355	72	77	0.349057	1	0	0	0	0	1	0	0	0	--	--		0	T			TLL1_uc011cjn.1_Missense_Mutation_p.R444C|TLL1_uc011cjo.1_Missense_Mutation_p.R268C	142	GBM-14-1034-TP	p.R444C	C	GATTGAGTTTCGTAGCAGCAG	NM_012464	NP_036596	166963247	O43897	TLL1_HUMAN	0		GBM - Glioblastoma multiforme(119;0.103)	11	1977	+	T	T	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	Missense_Mutation	444			CUB 1.			
TLL1	0	broad.mit.edu	GRCh37	4	166910622	166910622	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000061240.2:c.259G>A	p.Gly87Arg	p.G87R	ENST00000061240	NM_012464.4	87	Gga/Aga	0			1			A	G/R	uc003irh.1	protein_coding	YES	CCDS3811.1			259/3042									skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	c.(259-261)GGA>AGA			PIRSF_domain:PIRSF001199,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF304	tolloid-like 1 precursor				ENSP00000061240		21-Feb									COSM3409151	21-Feb	.		ENST00000061240	Transcript	1		cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	ENSG00000038295	g.chr4:166910622G>A	11843			MODERATE		0.755	neutral	getma.org/?cm=msa&ty=f&p=TLL1_HUMAN&rb=58&re=117&var=G87R	NA	getma.org/?cm=var&var=hg19,4,166910622,G,A&fts=all	G87R	--	--	1																																		TLL1_uc011cjn.1_Missense_Mutation_p.G87R|TLL1_uc011cjo.1_5'UTR	1	1		benign(0.002)	p.G87R	NM_012464	NP_036596		tolerated(0.33)	1	TLL1_HUMAN	TLL1	HGNC	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	D6RCE0_HUMAN		2	906	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	UPI0000072EED	87					SNV	TLL1,missense_variant,p.Gly87Arg,ENST00000061240,NM_012464.4;TLL1,missense_variant,p.Gly87Arg,ENST00000507499,;TLL1,missense_variant,p.Gly87Arg,ENST00000513213,NM_001204760.1;TLL1,5_prime_UTR_variant,,ENST00000506144,;TLL1,missense_variant,p.Gly87Arg,ENST00000509505,;TLL1,3_prime_UTR_variant,,ENST00000504560,;	uc003irh.1	c.259G>A	906/6708	1	1			c.259G>A						4	SNP	c.(259-261)GGA>AGA	54	54			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Broad	tolloid-like 1 precursor			166910622		0.333	ENSG00000038295	15701	g.chr4:166910622G>A	cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding							74.976356	KEEP	13	17	-1	44	17	13	17	-1	76.624483	44	17	0.338028	1	0	0	0	0	1	0	0	0	--	--		0	A			TLL1_uc011cjn.1_Missense_Mutation_p.G87R|TLL1_uc011cjo.1_5'UTR	235	GBM-32-2491-TP	p.G87R	G	GAACCCCTTTGGAAACCTTGG	NM_012464	NP_036596	166910622	O43897	TLL1_HUMAN	0		GBM - Glioblastoma multiforme(119;0.103)	2	906	+	A	A	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	Missense_Mutation	87						
TLL1	0	broad.mit.edu	GRCh37	4	166964454	166964454	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-76-4928-01	TCGA-76-4928-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000061240.2:c.1407T>C	p.Asn469=	p.N469=	ENST00000061240	NM_012464.4	469	aaT/aaC	0			1			C	N	uc003irh.1	protein_coding	YES	CCDS3811.1			1407/3042									skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	c.(1405-1407)AAT>AAC			Gene3D:2.60.120.290,Pfam_domain:PF00431,PIRSF_domain:PIRSF001199,PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF304,SMART_domains:SM00042,Superfamily_domains:SSF49854	tolloid-like 1 precursor				ENSP00000061240		21-Dec									COSM3409152	21-Dec	.		ENST00000061240	Transcript	1		cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	ENSG00000038295	g.chr4:166964454T>C	11843			LOW								--	--	1																																		TLL1_uc011cjn.1_Silent_p.N469N|TLL1_uc011cjo.1_Silent_p.N293N	1	1			p.N469N	NM_012464	NP_036596			1	TLL1_HUMAN	TLL1	HGNC	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	D6RCE0_HUMAN		12	2054	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	UPI0000072EED	469			CUB 2.		SNV	TLL1,synonymous_variant,p.=,ENST00000061240,NM_012464.4;TLL1,synonymous_variant,p.=,ENST00000507499,;TLL1,3_prime_UTR_variant,,ENST00000509505,;	uc003irh.1	c.1407T>C	2054/6708	3	3			c.1407T>C						4	SNP	c.(1405-1407)AAT>AAC	56	56			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Broad	tolloid-like 1 precursor			166964454		0.408	ENSG00000038295	15701	g.chr4:166964454T>C	cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding							44.605126	KEEP	16	25	-1	171	158	16	25	-1	92.193637	171	158	0.11041	1	0	0	0	0	0	0	1	0	--	--		0	C			TLL1_uc011cjn.1_Silent_p.N469N|TLL1_uc011cjo.1_Silent_p.N293N	268	GBM-76-4928-TP	p.N469N	T	TACGTAAAAATGAAGGACAGA	NM_012464	NP_036596	166964454	O43897	TLL1_HUMAN	0		GBM - Glioblastoma multiforme(119;0.103)	12	2054	+	C	C	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	Silent	469			CUB 2.			
TLL2	0	broad.mit.edu	GRCh37	10	98156950	98156950	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-1829-01	TCGA-14-1829-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357947.3:c.1377G>A	p.Ala459=	p.A459=	ENST00000357947	NM_012465.3	459	gcG/gcA	0			1			T	A	uc001kml.1	protein_coding	YES	CCDS7449.1			1377/3048									ovary(1)|pancreas(1)|skin(1)	3	c.(1375-1377)GCG>GCA			PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF613,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,PIRSF_domain:PIRSF001199,Superfamily_domains:SSF49854	tolloid-like 2 precursor				ENSP00000350630		21-Nov	4.94E-05		8.65E-05			6.02E-05		6.28E-05	rs750004312,COSM288984	21-Nov	.		ENST00000357947	Transcript			cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	ENSG00000095587	g.chr10:98156950C>T	11844			LOW								--	--	1																																		TLL2_uc009xvf.1_Silent_p.A437A	0,1	1			p.A459A	NM_012465	NP_036597			0,1	TLL2_HUMAN	TLL2	HGNC	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)			11	1603	-		Colorectal(252;0.0846)	UPI0000073AEE	459			CUB 1.		SNV	TLL2,synonymous_variant,p.=,ENST00000357947,NM_012465.3;TLL2,non_coding_transcript_exon_variant,,ENST00000469598,;	uc001kml.1	c.1377G>A	1603/6756	2	2			c.1377G>A						10	SNP	c.(1375-1377)GCG>GCA	25	25			ovary(1)|pancreas(1)|skin(1)	3	Broad	tolloid-like 2 precursor			98156950		0.622	ENSG00000095587	15702	g.chr10:98156950C>T	cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding							85.960789	KEEP	17	13	-1	25	21	17	13	-1	86.224652	25	21	0.432836	1	0	0	0	0	0	0	1	0	--	--		0	T			TLL2_uc009xvf.1_Silent_p.A437A	149	GBM-14-1829-TP	p.A459A	C	AACCTTCGTACGCTGCAAAGA	NM_012465	NP_036597	98156950	Q9Y6L7	TLL2_HUMAN	0		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	11	1603	-	T	T		Colorectal(252;0.0846)	Silent	459			CUB 1.			
TLL2	0	broad.mit.edu	GRCh37	10	98173027	98173027	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs61743696		TCGA-19-2631-01	TCGA-19-2631-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357947.3:c.970G>A	p.Val324Ile	p.V324I	ENST00000357947	NM_012465.3	324	Gtc/Atc	0	T:0		1			T	V/I	uc001kml.1	protein_coding	YES	CCDS7449.1			970/3048									ovary(1)|pancreas(1)|skin(1)	3	c.(970-972)GTC>ATC			hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF613,Pfam_domain:PF01400,Gene3D:3.40.390.10,PIRSF_domain:PIRSF001199,Superfamily_domains:SSF55486	tolloid-like 2 precursor			T:0.0002	ENSP00000350630		21-Aug	9.88E-05		8.67E-05			0.000165			rs61743696,COSM1727970	21-Aug	.		ENST00000357947	Transcript			cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	ENSG00000095587	g.chr10:98173027C>T	11844			MODERATE		0.49	neutral	getma.org/?cm=msa&ty=f&p=TLL2_HUMAN&rb=157&re=350&var=V324I	getma.org/pdb.php?prot=TLL2_HUMAN&from=157&to=350&var=V324I	getma.org/?cm=var&var=hg19,10,98173027,C,T&fts=all	V324I	--	--	1																																		TLL2_uc009xvf.1_Missense_Mutation_p.V272I	0,1	1		benign(0)	p.V324I	NM_012465	NP_036597		tolerated(0.64)	0,1	TLL2_HUMAN	TLL2	HGNC	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)			8	1196	-		Colorectal(252;0.0846)	UPI0000073AEE	324			Metalloprotease (By similarity).		SNV	TLL2,missense_variant,p.Val324Ile,ENST00000357947,NM_012465.3;TLL2,non_coding_transcript_exon_variant,,ENST00000469598,;	uc001kml.1	c.970G>A	1196/6756	1	1			c.970G>A						10	SNP	c.(970-972)GTC>ATC	1	1			ovary(1)|pancreas(1)|skin(1)	3	Broad	tolloid-like 2 precursor			98173027		0.522	ENSG00000095587	15702	g.chr10:98173027C>T	cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding							77.910565	KEEP	18	10	-1	5	7	18	10	-1	79.199709	5	7	0.705882	1	0	0	0	0	1	0	0	0	--	--		0	T			TLL2_uc009xvf.1_Missense_Mutation_p.V272I	167	GBM-19-2631-TP	p.V324I	C	GTTGGCCTGACGCCATTGTCA	NM_012465	NP_036597	98173027	Q9Y6L7	TLL2_HUMAN	0		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	8	1196	-	T	T		Colorectal(252;0.0846)	Missense_Mutation	324			Metalloprotease (By similarity).			
TLL2	0	broad.mit.edu	GRCh37	10	98157009	98157009	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01	TCGA-27-1830-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357947.3:c.1318C>T	p.Arg440Trp	p.R440W	ENST00000357947	NM_012465.3	440	Cgg/Tgg	0			1			A	R/W	uc001kml.1	protein_coding	YES	CCDS7449.1			1318/3048									ovary(1)|pancreas(1)|skin(1)	3	c.(1318-1320)CGG>TGG			PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF613,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,PIRSF_domain:PIRSF001199,Superfamily_domains:SSF49854	tolloid-like 2 precursor				ENSP00000350630		21-Nov	5.77E-05					6.01E-05		0.000183	rs755902799,COSM3397333	21-Nov	.		ENST00000357947	Transcript			cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	ENSG00000095587	g.chr10:98157009G>A	11844			MODERATE		2.94	medium	getma.org/?cm=msa&ty=f&p=TLL2_HUMAN&rb=351&re=460&var=R440W	getma.org/pdb.php?prot=TLL2_HUMAN&from=351&to=460&var=R440W	getma.org/?cm=var&var=hg19,10,98157009,G,A&fts=all	R440W	--	--	1																																		TLL2_uc009xvf.1_Missense_Mutation_p.R418W	0,1	1		possibly_damaging(0.57)	p.R440W	NM_012465	NP_036597		deleterious(0)	0,1	TLL2_HUMAN	TLL2	HGNC	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)			11	1544	-		Colorectal(252;0.0846)	UPI0000073AEE	440			CUB 1.		SNV	TLL2,missense_variant,p.Arg440Trp,ENST00000357947,NM_012465.3;TLL2,non_coding_transcript_exon_variant,,ENST00000469598,;	uc001kml.1	c.1318C>T	1544/6756	2	2			c.1318C>T						10	SNP	c.(1318-1320)CGG>TGG	28	28			ovary(1)|pancreas(1)|skin(1)	3	Broad	tolloid-like 2 precursor			98157009		0.587	ENSG00000095587	15702	g.chr10:98157009G>A	cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding							85.94531	KEEP	10	18	-1	16	26	10	18	-1	86.114484	16	26	0.442623	1	0	0	0	0	1	0	0	0	--	--		0	A			TLL2_uc009xvf.1_Missense_Mutation_p.R418W	189	GBM-27-1830-TP	p.R440W	G	ACCCAGAGCCGGCTGTCCGTG	NM_012465	NP_036597	98157009	Q9Y6L7	TLL2_HUMAN	0		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	11	1544	-	A	A		Colorectal(252;0.0846)	Missense_Mutation	440			CUB 1.			
TLN2	0	broad.mit.edu	GRCh37	15	63058560	63058560	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01	TCGA-14-0813-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306829.6:c.5135G>A	p.Gly1712Glu	p.G1712E	ENST00000306829	NM_015059.2	1712	gGa/gAa	0			1			A	G/E	uc002alb.3	protein_coding		CCDS32261.1			5135/7629									ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11	c.(5134-5136)GGA>GAA			hmmpanther:PTHR19981,hmmpanther:PTHR19981:SF15,Superfamily_domains:SSF47220	talin 2				ENSP00000303476		38/56									COSM2154698	38/56	.		ENST00000306829	Transcript			cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	ENSG00000171914	g.chr15:63058560G>A	15447			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=TLN2_HUMAN&rb=1656&re=1849&var=G1712E	getma.org/pdb.php?prot=TLN2_HUMAN&from=1656&to=1849&var=G1712E	getma.org/?cm=var&var=hg19,15,63058560,G,A&fts=all	G1712E	--	--	1																																		TLN2_uc002alc.3_Missense_Mutation_p.G105E|TLN2_uc002ald.2_Missense_Mutation_p.G105E	1			benign(0.01)	p.G1712E	NM_015059	NP_055874		tolerated(0.31)	1	TLN2_HUMAN	TLN2	HGNC	Q9Y4G6	TLN2_HUMAN					38	5135	+			UPI00001FE5FC	1712					SNV	TLN2,missense_variant,p.Gly1712Glu,ENST00000561311,;TLN2,missense_variant,p.Gly1712Glu,ENST00000306829,NM_015059.2;TLN2,missense_variant,p.Gly626Glu,ENST00000494733,;TLN2,missense_variant,p.Gly105Glu,ENST00000472902,;TLN2,non_coding_transcript_exon_variant,,ENST00000489129,;TLN2,downstream_gene_variant,,ENST00000467297,;	uc002alb.3	c.5135G>A	5135/11650	2	2			c.5135G>A						15	SNP	c.(5134-5136)GGA>GAA	25	25			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11	Broad	talin 2			63058560		0.572	ENSG00000171914	15704	g.chr15:63058560G>A	cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton							56.503735	KEEP	14	16	-1	37	45	14	16	-1	60.587179	37	45	0.26506	1	0	0	0	0	1	0	0	0	--	--		0	A			TLN2_uc002alc.3_Missense_Mutation_p.G105E|TLN2_uc002ald.2_Missense_Mutation_p.G105E	138	GBM-14-0813-TP	p.G1712E	G	CAGGAAATCGGACACCTTATC	NM_015059	NP_055874	63058560	Q9Y4G6	TLN2_HUMAN	0			38	5135	+	A	A			Missense_Mutation	1712						
TLN2	0	broad.mit.edu	GRCh37	15	63063321	63063321	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-2499-01	TCGA-28-2499-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306829.6:c.5355C>T	p.Gly1785=	p.G1785=	ENST00000306829	NM_015059.2	1785	ggC/ggT	0			1			T	G	uc002alb.3	protein_coding		CCDS32261.1			5355/7629									ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11	c.(5353-5355)GGC>GGT			hmmpanther:PTHR19981,hmmpanther:PTHR19981:SF15,Gene3D:1.20.1440.10,Superfamily_domains:SSF47220	talin 2				ENSP00000303476		39/56									COSM3401861	39/56	.		ENST00000306829	Transcript			cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	ENSG00000171914	g.chr15:63063321C>T	15447			LOW								--	--	1																																		TLN2_uc002alc.3_Silent_p.G178G|TLN2_uc002ald.2_Silent_p.G178G	1				p.G1785G	NM_015059	NP_055874			1	TLN2_HUMAN	TLN2	HGNC	Q9Y4G6	TLN2_HUMAN					39	5355	+			UPI00001FE5FC	1785					SNV	TLN2,synonymous_variant,p.=,ENST00000561311,;TLN2,synonymous_variant,p.=,ENST00000306829,NM_015059.2;TLN2,synonymous_variant,p.=,ENST00000494733,;TLN2,synonymous_variant,p.=,ENST00000472902,;TLN2,non_coding_transcript_exon_variant,,ENST00000489129,;TLN2,downstream_gene_variant,,ENST00000467297,;	uc002alb.3	c.5355C>T	5355/11650	2	2			c.5355C>T						15	SNP	c.(5353-5355)GGC>GGT	26	26			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11	Broad	talin 2			63063321		0.507	ENSG00000171914	15704	g.chr15:63063321C>T	cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton							141.982107	KEEP	24	29	-1	35	30	24	29	-1	142.370275	35	30	0.436364	1	0	0	0	0	0	0	1	0	--	--		0	T			TLN2_uc002alc.3_Silent_p.G178G|TLN2_uc002ald.2_Silent_p.G178G	208	GBM-28-2499-TP	p.G1785G	C	AAGAAGGTGGCGGAAACCCCA	NM_015059	NP_055874	63063321	Q9Y4G6	TLN2_HUMAN	0			39	5355	+	T	T			Silent	1785						
TLN2	0	broad.mit.edu	GRCh37	15	63055766	63055766	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-32-1977-01	TCGA-32-1977-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306829.6:c.4966A>C	p.Lys1656Gln	p.K1656Q	ENST00000306829	NM_015059.2	1656	Aag/Cag	0			1			C	K/Q	uc002alb.3	protein_coding		CCDS32261.1			4966/7629									ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11	c.(4966-4968)AAG>CAG			hmmpanther:PTHR19981,hmmpanther:PTHR19981:SF15,Gene3D:1.20.1440.10	talin 2				ENSP00000303476		37/56									COSM3401860	37/56	.		ENST00000306829	Transcript			cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	ENSG00000171914	g.chr15:63055766A>C	15447			MODERATE		2.3	medium	getma.org/?cm=msa&ty=f&p=TLN2_HUMAN&rb=1656&re=1849&var=K1656Q	NA	getma.org/?cm=var&var=hg19,15,63055766,A,C&fts=all	K1656Q	--	--	1																																		TLN2_uc002alc.3_Missense_Mutation_p.K49Q|TLN2_uc002ald.2_Missense_Mutation_p.K49Q	1			benign(0.021)	p.K1656Q	NM_015059	NP_055874		tolerated(0.08)	1	TLN2_HUMAN	TLN2	HGNC	Q9Y4G6	TLN2_HUMAN					37	4966	+			UPI00001FE5FC	1656					SNV	TLN2,missense_variant,p.Lys1656Gln,ENST00000561311,;TLN2,missense_variant,p.Lys1656Gln,ENST00000306829,NM_015059.2;TLN2,missense_variant,p.Lys570Gln,ENST00000494733,;TLN2,missense_variant,p.Lys49Gln,ENST00000472902,;TLN2,non_coding_transcript_exon_variant,,ENST00000489129,;TLN2,non_coding_transcript_exon_variant,,ENST00000467297,;	uc002alb.3	c.4966A>C	4966/11650	3	3			c.4966A>C						15	SNP	c.(4966-4968)AAG>CAG	11	11			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11	Broad	talin 2			63055766		0.617	ENSG00000171914	15704	g.chr15:63055766A>C	cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton							65.567806	KEEP	14	13	-1	27	74	14	13	-1	73.402834	27	74	0.216981	1	0	0	0	0	1	0	0	0	--	--		0	C			TLN2_uc002alc.3_Missense_Mutation_p.K49Q|TLN2_uc002ald.2_Missense_Mutation_p.K49Q	229	GBM-32-1977-TP	p.K1656Q	A	TTCCAGGGACAAGGCCCCTGG	NM_015059	NP_055874	63055766	Q9Y4G6	TLN2_HUMAN	0			37	4966	+	C	C			Missense_Mutation	1656						
TLR1	0	broad.mit.edu	GRCh37	4	38798595	38798595	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs144775976	byFrequency	TCGA-19-1390-01	TCGA-19-1390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308979.2:c.1858C>T	p.Arg620Trp	p.R620W	ENST00000308979	NM_003263.3	620	Cgg/Tgg	0	T:0.0007		1			A	R/W	uc003gtl.2	protein_coding	YES	CCDS33973.1			1858/2361									lung(2)|skin(2)|prostate(1)	5	c.(1858-1860)CGG>TGG			hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF261,PIRSF_domain:PIRSF037595	toll-like receptor 1 precursor			T:0	ENSP00000354932		4-Apr	6.59E-05	0.000192				4.50E-05		0.000182	rs144775976,COSM3409270	4-Apr	.		ENST00000308979	Transcript	1		cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	ENSG00000174125	g.chr4:38798595G>A	11847			MODERATE		1.42	low	getma.org/?cm=msa&ty=f&p=TLR1_HUMAN&rb=503&re=638&var=R620W	NA	getma.org/?cm=var&var=hg19,4,38798595,G,A&fts=all	R620W	--	--	1																																			0,1	1		probably_damaging(0.939)	p.R620W	NM_003263	NP_003254		tolerated(0.21)	0,1	TLR1_HUMAN	TLR1	HGNC	Q15399	TLR1_HUMAN			Q32MK4_HUMAN,D6RF68_HUMAN,D6RCE8_HUMAN,D6RAP2_HUMAN,D6RA99_HUMAN		4	2132	-			UPI000013EDFA	620			Cytoplasmic (Potential).		SNV	TLR1,missense_variant,p.Arg620Trp,ENST00000308979,NM_003263.3;TLR1,missense_variant,p.Arg620Trp,ENST00000502213,;TLR1,downstream_gene_variant,,ENST00000505940,;TLR1,downstream_gene_variant,,ENST00000508364,;TLR1,downstream_gene_variant,,ENST00000515861,;TLR1,downstream_gene_variant,,ENST00000506146,;TLR1,intron_variant,,ENST00000505744,;TLR1,upstream_gene_variant,,ENST00000510552,;TLR1,downstream_gene_variant,,ENST00000509754,;TLR1,downstream_gene_variant,,ENST00000508535,;	uc003gtl.2	c.1858C>T	2132/2847	1	1			c.1858C>T						4	SNP	c.(1858-1860)CGG>TGG	52	52			lung(2)|skin(2)|prostate(1)	5	Broad	toll-like receptor 1 precursor			38798595		0.517	ENSG00000174125	15705	g.chr4:38798595G>A	cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	GBM(5;216 373 40795 46382)			GBM(5;216 373 40795 46382)			301.62204	KEEP	52	47	-1	71	51	52	47	-1	301.935684	71	51	0.457286	1	0	0	0	0	1	0	0	0	--	--		0	A				159	GBM-19-1390-TP	p.R620W	G	GCCCTGCGCCGGGTCTGGGTC	NM_003263	NP_003254	38798595	Q15399	TLR1_HUMAN	0			4	2132	-	A	A			Missense_Mutation	620			Cytoplasmic (Potential).			
TLR1	0	broad.mit.edu	GRCh37	4	38798601	38798601	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-41-2571-01	TCGA-41-2571-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308979.2:c.1852C>T	p.Gln618Ter	p.Q618*	ENST00000308979	NM_003263.3	618	Cag/Tag	0			1			A	Q/*	uc003gtl.2	protein_coding	YES	CCDS33973.1			1852/2361									lung(2)|skin(2)|prostate(1)	5	c.(1852-1854)CAG>TAG			hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF261,PIRSF_domain:PIRSF037595	toll-like receptor 1 precursor				ENSP00000354932		4-Apr									COSM3409271	4-Apr	.		ENST00000308979	Transcript	1		cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	ENSG00000174125	g.chr4:38798601G>A	11847			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,4,38798601,G,A&fts=all	Q618*	--	--	1																																			1	1			p.Q618*	NM_003263	NP_003254			1	TLR1_HUMAN	TLR1	HGNC	Q15399	TLR1_HUMAN			Q32MK4_HUMAN,D6RF68_HUMAN,D6RCE8_HUMAN,D6RAP2_HUMAN,D6RA99_HUMAN		4	2126	-			UPI000013EDFA	618			Cytoplasmic (Potential).		SNV	TLR1,stop_gained,p.Gln618Ter,ENST00000308979,NM_003263.3;TLR1,stop_gained,p.Gln618Ter,ENST00000502213,;TLR1,downstream_gene_variant,,ENST00000505940,;TLR1,downstream_gene_variant,,ENST00000508364,;TLR1,downstream_gene_variant,,ENST00000515861,;TLR1,downstream_gene_variant,,ENST00000506146,;TLR1,intron_variant,,ENST00000505744,;TLR1,upstream_gene_variant,,ENST00000510552,;TLR1,downstream_gene_variant,,ENST00000509754,;TLR1,downstream_gene_variant,,ENST00000508535,;	uc003gtl.2	c.1852C>T	2126/2847	5	2			c.1852C>T						4	SNP	c.(1852-1854)CAG>TAG	48	48			lung(2)|skin(2)|prostate(1)	5	Broad	toll-like receptor 1 precursor			38798601		0.522	ENSG00000174125	15705	g.chr4:38798601G>A	cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	GBM(5;216 373 40795 46382)			GBM(5;216 373 40795 46382)			199.573515	KEEP	42	33	-1	63	65	42	33	-1	201.868037	63	65	0.378531	1	0	0	0	0	0	1	0	0	--	--		0	A				250	GBM-41-2571-TP	p.Q618*	G	CGCCGGGTCTGGGTCCACTGG	NM_003263	NP_003254	38798601	Q15399	TLR1_HUMAN	0			4	2126	-	A	A			Nonsense_Mutation	618			Cytoplasmic (Potential).			
TLR10	0	broad.mit.edu	GRCh37	4	38777060	38777060	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01	TCGA-14-0789-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308973.4:c.152C>T	p.Thr51Met	p.T51M	ENST00000308973	NM_030956.3	51	aCg/aTg	0	A:0		1			A	T/M	uc003gti.2	protein_coding	YES	CCDS3445.1			152/2436									lung(1)|breast(1)	2	c.(151-153)ACG>ATG			Gene3D:3.80.10.10,PIRSF_domain:PIRSF037595,PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF131,Low_complexity_(Seg):seg,Superfamily_domains:SSF52058	toll-like receptor 10 precursor			A:0.0001	ENSP00000308925		4-Apr	1.65E-05					3.00E-05			rs375480992,COSM3409269	4-Apr	.		ENST00000308973	Transcript			inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	ENSG00000174123	g.chr4:38777060G>A	15634			MODERATE		2.275	medium	getma.org/?cm=msa&ty=f&p=TLR10_HUMAN&rb=48&re=108&var=T51M	getma.org/pdb.php?prot=TLR10_HUMAN&from=48&to=108&var=T51M	getma.org/?cm=var&var=hg19,4,38777060,G,A&fts=all	T51M	--	--	1																																		TLR10_uc003gtj.2_Missense_Mutation_p.T51M|TLR10_uc003gtk.2_Missense_Mutation_p.T51M	0,1	1		possibly_damaging(0.892)	p.T51M	NM_030956	NP_112218		deleterious(0.01)	0,1	TLR10_HUMAN	TLR10	HGNC	Q9BXR5	TLR10_HUMAN			D6RHW6_HUMAN		2	531	-			UPI0000048F1C	51			Extracellular (Potential).|LRR 2.		SNV	TLR10,missense_variant,p.Thr51Met,ENST00000308973,NM_030956.3,NM_001195107.1,NM_001017388.2;TLR10,missense_variant,p.Thr51Met,ENST00000506111,;TLR10,missense_variant,p.Thr51Met,ENST00000361424,;TLR10,missense_variant,p.Thr51Met,ENST00000508334,;TLR10,missense_variant,p.Thr37Met,ENST00000502321,;TLR10,downstream_gene_variant,,ENST00000507953,;	uc003gti.2	c.152C>T	758/3958	2	2			c.152C>T						4	SNP	c.(151-153)ACG>ATG	35	35			lung(1)|breast(1)	2	Broad	toll-like receptor 10 precursor			38777060		0.448	ENSG00000174123	15706	g.chr4:38777060G>A	inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity							78.405666	KEEP	18	20	-1	72	45	18	20	-1	84.184353	72	45	0.263158	1	0	0	0	0	1	0	0	0	--	--		0	A			TLR10_uc003gtj.2_Missense_Mutation_p.T51M|TLR10_uc003gtk.2_Missense_Mutation_p.T51M	136	GBM-14-0789-TP	p.T51M	G	ATCCAGTGTCGTTGTGGCTGG	NM_030956	NP_112218	38777060	Q9BXR5	TLR10_HUMAN	0			2	531	-	A	A			Missense_Mutation	51			Extracellular (Potential).|LRR 2.			
TLR10	81793		GRCh37	4	38777038	38777038	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000308973.4:c.174C>A	p.Asn58Lys	p.N58K	ENST00000308973	NM_030956.3	58	aaC/aaA	0																																																																																																																																																																																																																																												
TLR2	7097	broad.mit.edu	GRCh37	4	154626088	154626088	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs121917864		TCGA-06-0875-01	TCGA-06-0875-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260010.6:c.2029C>T	p.Arg677Trp	p.R677W	ENST00000260010	NM_003264.3	677	Cgg/Tgg	0			1			T	R/W	uc003inq.2	protein_coding	YES	CCDS3784.1			2029/2355						risk_factor			ovary(1)|lung(1)|breast(1)	3	c.(2029-2031)CGG>TGG			PROSITE_profiles:PS50104,hmmpanther:PTHR24365:SF17,hmmpanther:PTHR24365,Gene3D:3.40.50.10140,Pfam_domain:PF01582,PIRSF_domain:PIRSF037595,SMART_domains:SM00255,Superfamily_domains:SSF52200	toll-like receptor 2 precursor				ENSP00000260010		1-Jan	7.41E-05			0.000116		9.02E-05	0.0011	6.06E-05	rs121917864,COSM1539674	1-Jan	.		ENST00000260010	Transcript	1		cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	ENSG00000137462	g.chr4:154626088C>T	11848			MODERATE		3.535	high	getma.org/?cm=msa&ty=f&p=TLR2_HUMAN&rb=643&re=781&var=R677W	getma.org/pdb.php?prot=TLR2_HUMAN&from=643&to=781&var=R677W	getma.org/?cm=var&var=hg19,4,154626088,C,T&fts=all	R677W	--	--	1																																		TLR2_uc003inr.2_Missense_Mutation_p.R677W|TLR2_uc003ins.2_Missense_Mutation_p.R677W	1,1	1	24053111	probably_damaging(1)	p.R677W	NM_003264	NP_003255		deleterious(0)	0,1	TLR2_HUMAN	TLR2	HGNC	O60603	TLR2_HUMAN			K9MV98_HUMAN,C6KIA6_HUMAN		3	2248	+	all_hematologic(180;0.093)	Renal(120;0.117)	UPI0000137051	677		R -> W.	TIR.|Cytoplasmic (Potential).		SNV	TLR2,missense_variant,p.Arg677Trp,ENST00000260010,NM_003264.3;	uc003inq.2	c.2029C>T	3437/4200	2	2			c.2029C>T						4	SNP	c.(2029-2031)CGG>TGG	24	24			ovary(1)|lung(1)|breast(1)	3	Broad	toll-like receptor 2 precursor			154626088		0.443	ENSG00000137462	15707	g.chr4:154626088C>T	cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding							256.876916	KEEP	57	30	-1	68	68	57	30	-1	258.287902	68	68	0.411483	1	0	0	0	0	1	0	0	0	--	--		0	T			TLR2_uc003inr.2_Missense_Mutation_p.R677W|TLR2_uc003ins.2_Missense_Mutation_p.R677W	71	GBM-06-0875-TP	p.R677W	C	TCTTCATAAGCGGGACTTCAT	NM_003264	NP_003255	154626088	O60603	TLR2_HUMAN	0			3	2248	+	T	T	all_hematologic(180;0.093)	Renal(120;0.117)	Missense_Mutation	677		R -> W.	TIR.|Cytoplasmic (Potential).			
TLR2	0	broad.mit.edu	GRCh37	4	154625962	154625962	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01	TCGA-27-1836-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260010.6:c.1903C>T	p.Pro635Ser	p.P635S	ENST00000260010	NM_003264.3	635	Ccc/Tcc	0			1			T	P/S	uc003inq.2	protein_coding	YES	CCDS3784.1			1903/2355									ovary(1)|lung(1)|breast(1)	3	c.(1903-1905)CCC>TCC			hmmpanther:PTHR24365:SF17,hmmpanther:PTHR24365,PIRSF_domain:PIRSF037595	toll-like receptor 2 precursor				ENSP00000260010		1-Jan									COSM3409098	1-Jan	.		ENST00000260010	Transcript	1		cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	ENSG00000137462	g.chr4:154625962C>T	11848			MODERATE		1.83	low	getma.org/?cm=msa&ty=f&p=TLR2_HUMAN&rb=494&re=642&var=P635S	NA	getma.org/?cm=var&var=hg19,4,154625962,C,T&fts=all	P635S	--	--	1																																		TLR2_uc003inr.2_Missense_Mutation_p.P635S|TLR2_uc003ins.2_Missense_Mutation_p.P635S	1	1		benign(0.341)	p.P635S	NM_003264	NP_003255		tolerated(0.13)	1	TLR2_HUMAN	TLR2	HGNC	O60603	TLR2_HUMAN			K9MV98_HUMAN,C6KIA6_HUMAN		3	2122	+	all_hematologic(180;0.093)	Renal(120;0.117)	UPI0000137051	635			Cytoplasmic (Potential).		SNV	TLR2,missense_variant,p.Pro635Ser,ENST00000260010,NM_003264.3;	uc003inq.2	c.1903C>T	3311/4200	1	1			c.1903C>T						4	SNP	c.(1903-1905)CCC>TCC	8	8			ovary(1)|lung(1)|breast(1)	3	Broad	toll-like receptor 2 precursor			154625962		0.537	ENSG00000137462	15707	g.chr4:154625962C>T	cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding							67.64687	KEEP	13	14	-1	27	39	13	14	-1	71.325097	27	39	0.284091	1	0	0	0	0	1	0	0	0	--	--		0	T			TLR2_uc003inr.2_Missense_Mutation_p.P635S|TLR2_uc003ins.2_Missense_Mutation_p.P635S	195	GBM-27-1836-TP	p.P635S	C	CAGGAAAGCTCCCAGCAGGAA	NM_003264	NP_003255	154625962	O60603	TLR2_HUMAN	0			3	2122	+	T	T	all_hematologic(180;0.093)	Renal(120;0.117)	Missense_Mutation	635			Cytoplasmic (Potential).			
TLR2	7097		GRCh37	4	154624496	154624496	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000260010.6:c.437C>G	p.Ser146Cys	p.S146C	ENST00000260010	NM_003264.3	146	tCt/tGt	0																																																																																																																																																																																																																																												
TLR3	0	broad.mit.edu	GRCh37	4	187003773	187003773	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2629-01	TCGA-19-2629-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296795.3:c.933G>A	p.Gln311=	p.Q311=	ENST00000296795	NM_003265.2	311	caG/caA	0			1			A	Q	uc003iyq.2	protein_coding	YES	CCDS3846.1			933/2715									ovary(2)|prostate(1)|lung(1)|breast(1)	5	c.(931-933)CAG>CAA			PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF5,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,Superfamily_domains:SSF52058	toll-like receptor 3 precursor				ENSP00000296795		5-Apr									COSM3409204	5-Apr	.		ENST00000296795	Transcript	1		activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	ENSG00000164342	g.chr4:187003773G>A	11849			LOW								--	--	1																																		TLR3_uc011ckz.1_Silent_p.Q34Q|TLR3_uc003iyr.2_Silent_p.Q34Q	1	1			p.Q311Q	NM_003265	NP_003256			1	TLR3_HUMAN	TLR3	HGNC	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	E6Y0F1_HUMAN,Q1KMK2_HUMAN,E9PGH4_HUMAN		4	1034	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	UPI0000049B3E	311			Lumenal (Potential).|LRR 11.		SNV	TLR3,synonymous_variant,p.=,ENST00000296795,NM_003265.2;TLR3,synonymous_variant,p.=,ENST00000504367,;TLR3,intron_variant,,ENST00000513189,;TLR3,non_coding_transcript_exon_variant,,ENST00000508051,;TLR3,non_coding_transcript_exon_variant,,ENST00000512264,;	uc003iyq.2	c.933G>A	1037/6015	2	2			c.933G>A						4	SNP	c.(931-933)CAG>CAA	41	41			ovary(2)|prostate(1)|lung(1)|breast(1)	5	Broad	toll-like receptor 3 precursor			187003773		0.383	ENSG00000164342	15708	g.chr4:187003773G>A	activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			155			155	4.892825	KEEP	8	5	-1	76	51	8	5	-1	27.430605	76	51	0.090226	1	0	0	0	0	0	0	1	0	--	--		0	A			TLR3_uc011ckz.1_Silent_p.Q34Q|TLR3_uc003iyr.2_Silent_p.Q34Q	166	GBM-19-2629-TP	p.Q311Q	G	ATAATATACAGCATTTGTTTT	NM_003265	NP_003256	187003773	O15455	TLR3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	4	1034	+	A	A		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	Silent	311			Lumenal (Potential).|LRR 11.			
TLR3	7098		GRCh37	4	187003807	187003807	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000296795.3:c.968del	p.Asn323MetfsTer2	p.N323Mfs*2	ENST00000296795	NM_003265.2	323	Aat/at	0																																																																																																																																																																																																																																												
TLR4	7099	broad.mit.edu	GRCh37	9	120475663	120475663	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0211-01	TCGA-06-0211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355622.6:c.1257G>C	p.Leu419Phe	p.L419F	ENST00000355622	NM_138557.2	419	ttG/ttC	0			1			C	L/F	uc004bjz.2	protein_coding	YES	CCDS6818.1			1257/2520									lung(10)|ovary(4)|breast(1)|skin(1)	16	c.(1255-1257)TTG>TTC			Gene3D:3.80.10.10,PIRSF_domain:PIRSF037595,PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF230,SMART_domains:SM00365,Superfamily_domains:SSF52047	toll-like receptor 4 precursor				ENSP00000363089		3-Mar									COSM2150749	3-Mar	.		ENST00000355622	Transcript	1		activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	ENSG00000136869	g.chr9:120475663G>C	11850			MODERATE		0.28	neutral	getma.org/?cm=msa&ty=f&p=TLR4_HUMAN&rb=399&re=458&var=L419F	getma.org/pdb.php?prot=TLR4_HUMAN&from=399&to=458&var=L419F	getma.org/?cm=var&var=hg19,9,120475663,G,C&fts=all	L419F	--	--	1																																		TLR4_uc004bka.2_Missense_Mutation_p.L379F|TLR4_uc004bkb.2_Missense_Mutation_p.L219F	1	1		possibly_damaging(0.848)	p.L419F	NM_138554	NP_612564		tolerated(0.38)	1	TLR4_HUMAN	TLR4	HGNC	O00206	TLR4_HUMAN			K9MSZ3_HUMAN,D0EWT7_HUMAN		3	1548	+			UPI0000137057	419			LRR 12.|Extracellular (Potential).		SNV	TLR4,missense_variant,p.Leu419Phe,ENST00000355622,NM_138557.2,NM_138554.4;TLR4,missense_variant,p.Leu379Phe,ENST00000394487,NM_003266.3;TLR4,non_coding_transcript_exon_variant,,ENST00000472304,;TLR4,downstream_gene_variant,,ENST00000490685,;	uc004bjz.2	c.1257G>C	1358/4844	3	3			c.1257G>C						9	SNP	c.(1255-1257)TTG>TTC	1	1			lung(10)|ovary(4)|breast(1)|skin(1)	16	Broad	toll-like receptor 4 precursor			120475663		0.373	ENSG00000136869	15709	g.chr9:120475663G>C	activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			157			157	208.963309	KEEP	37	32	-1	60	60	37	32	-1	211.050516	60	60	0.380952	1	0	0	0	0	1	0	0	0	--	--		0	C			TLR4_uc004bka.2_Missense_Mutation_p.L379F|TLR4_uc004bkb.2_Missense_Mutation_p.L219F	48	GBM-06-0211-TP	p.L419F	G	CAAACTTCTTGGGCTTAGAAC	NM_138554	NP_612564	120475663	O00206	TLR4_HUMAN	0			3	1548	+	C	C			Missense_Mutation	419			LRR 12.|Extracellular (Potential).			
TLR4	7099		GRCh37	9	120466768	120466768	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-06-0240-01	TCGA-06-0240-01																				ENST00000355622.6:c.18C>G	p.Arg6=	p.R6=	ENST00000355622	NM_138557.2	6	cgC/cgG	0																																																																																																																																																																																																																																												
TLR5	7100		GRCh37	1	223285038	223285038	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000540964.1:c.1336C>T	p.Arg446Trp	p.R446W	ENST00000540964		446	Cgg/Tgg	0																																																																																																																																																																																																																																												
TLR6	10333	broad.mit.edu	GRCh37	4	38830432	38830432	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	rs146892714		TCGA-06-0137-01	TCGA-06-0137-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000436693.2:c.663del	p.Cys222AlafsTer4	p.C222Afs*4	ENST00000436693	NM_006068.4	221	ggG/gg	0			1			-	G/X	uc003gtm.2	protein_coding		CCDS3446.1			663/2391									ovary(2)	2	c.(661-663)GGGfs			hmmpanther:PTHR24365:SF23,hmmpanther:PTHR24365,Gene3D:3.80.10.10,PIRSF_domain:PIRSF037595	toll-like receptor 6 precursor				ENSP00000371376		1-Jan									COSM2149589	1-Jan	.		ENST00000381950	Transcript			activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	ENSG00000174130	g.chr4:38830432delC	16711			HIGH								--	--	1																																		TLR6_uc010ifg.1_Frame_Shift_Del_p.G221fs	1				p.G221fs	NM_006068	NP_006059			1	TLR6_HUMAN	TLR6	HGNC	Q9Y2C9	TLR6_HUMAN			D6RAV7_HUMAN,D6R979_HUMAN		1	729	-			UPI000013EE02	221			Extracellular (Potential).		deletion	TLR6,frameshift_variant,p.Cys222AlafsTer4,ENST00000436693,NM_006068.4;TLR6,frameshift_variant,p.Cys222AlafsTer4,ENST00000381950,;TLR1,intron_variant,,ENST00000506146,;TLR6,downstream_gene_variant,,ENST00000508254,;TLR6,downstream_gene_variant,,ENST00000514655,;	uc003gtm.2	c.663delG	729/2938	5	5			c.663delG						4	DEL	c.(661-663)GGGfs	1	1			ovary(2)	2	Broad	toll-like receptor 6 precursor			38830432		0.323	ENSG00000174130	15711	g.chr4:38830432delC	activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity																				0.36	1	1	0	1	0	0	0	0	0	--	--		0	-			TLR6_uc010ifg.1_Frame_Shift_Del_p.G221fs	18	GBM-06-0137-TP	p.G221fs	C	GTTGTAAGCACCCTAAAGTAT	NM_006068	NP_006059	38830432	Q9Y2C9	TLR6_HUMAN	0			1	729	-	-	-			Frame_Shift_Del	221			Extracellular (Potential).			
TLR6	10333	broad.mit.edu	GRCh37	4	38830788	38830788	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000436693.2:c.307G>A	p.Glu103Lys	p.E103K	ENST00000436693	NM_006068.4	103	Gaa/Aaa	0			1			T	E/K	uc003gtm.2	protein_coding		CCDS3446.1			307/2391									ovary(2)	2	c.(307-309)GAA>AAA			PROSITE_profiles:PS51450,hmmpanther:PTHR24365:SF23,hmmpanther:PTHR24365,Gene3D:3.80.10.10,Pfam_domain:PF13855,PIRSF_domain:PIRSF037595,SMART_domains:SM00369,Superfamily_domains:SSF52058,Prints_domain:PR00019	toll-like receptor 6 precursor				ENSP00000371376		1-Jan									COSM2151789	1-Jan	.		ENST00000381950	Transcript			activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	ENSG00000174130	g.chr4:38830788C>T	16711			MODERATE		1.46	low	getma.org/?cm=msa&ty=f&p=TLR6_HUMAN&rb=76&re=133&var=E103K	getma.org/pdb.php?prot=TLR6_HUMAN&from=76&to=133&var=E103K	getma.org/?cm=var&var=hg19,4,38830788,C,T&fts=all	E103K	--	--	1																																		TLR6_uc010ifg.1_Missense_Mutation_p.E103K	1			probably_damaging(0.964)	p.E103K	NM_006068	NP_006059		deleterious(0.03)	1	TLR6_HUMAN	TLR6	HGNC	Q9Y2C9	TLR6_HUMAN			D6RAV7_HUMAN,D6R979_HUMAN		1	373	-			UPI000013EE02	103			LRR 3.|Extracellular (Potential).		SNV	TLR6,missense_variant,p.Glu103Lys,ENST00000436693,NM_006068.4;TLR6,missense_variant,p.Glu103Lys,ENST00000381950,;TLR6,missense_variant,p.Glu103Lys,ENST00000508254,;TLR1,intron_variant,,ENST00000506146,;TLR6,downstream_gene_variant,,ENST00000514655,;	uc003gtm.2	c.307G>A	373/2938	2	2			c.307G>A						4	SNP	c.(307-309)GAA>AAA	17	17			ovary(2)	2	Broad	toll-like receptor 6 precursor			38830788		0.363	ENSG00000174130	15711	g.chr4:38830788C>T	activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity							97.17743	KEEP	18	17	-1	38	20	18	17	-1	98.222577	38	20	0.380952	1	0	0	0	0	1	0	0	0	--	--		0	T			TLR6_uc010ifg.1_Missense_Mutation_p.E103K	68	GBM-06-0747-TP	p.E103K	C	TCCAAATATTCTAAATCCTGG	NM_006068	NP_006059	38830788	Q9Y2C9	TLR6_HUMAN	0			1	373	-	T	T			Missense_Mutation	103			LRR 3.|Extracellular (Potential).			
TLR6	10333	broad.mit.edu	GRCh37	4	38829222	38829222	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000436693.2:c.1873C>T	p.Arg625Trp	p.R625W	ENST00000436693	NM_006068.4	625	Cgg/Tgg	0	A:0		1			A	R/W	uc003gtm.2	protein_coding		CCDS3446.1			1873/2391									ovary(2)	2	c.(1873-1875)CGG>TGG			hmmpanther:PTHR24365:SF23,hmmpanther:PTHR24365,PIRSF_domain:PIRSF037595	toll-like receptor 6 precursor			A:0.0001	ENSP00000371376		1-Jan	2.47E-05	9.61E-05				1.50E-05		6.06E-05	rs375362297,COSM397271	1-Jan	.		ENST00000381950	Transcript			activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	ENSG00000174130	g.chr4:38829222G>A	16711			MODERATE		1.455	low	getma.org/?cm=msa&ty=f&p=TLR6_HUMAN&rb=584&re=643&var=R625W	NA	getma.org/?cm=var&var=hg19,4,38829222,G,A&fts=all	R625W	--	--	1																																		TLR6_uc010ifg.1_Missense_Mutation_p.R625W	0,1			possibly_damaging(0.841)	p.R625W	NM_006068	NP_006059		tolerated(0.21)	0,1	TLR6_HUMAN	TLR6	HGNC	Q9Y2C9	TLR6_HUMAN			D6RAV7_HUMAN,D6R979_HUMAN		1	1939	-			UPI000013EE02	625			Cytoplasmic (Potential).		SNV	TLR6,missense_variant,p.Arg625Trp,ENST00000436693,NM_006068.4;TLR6,missense_variant,p.Arg625Trp,ENST00000381950,;TLR1,intron_variant,,ENST00000506146,;TLR6,downstream_gene_variant,,ENST00000508254,;TLR6,downstream_gene_variant,,ENST00000514655,;	uc003gtm.2	c.1873C>T	1939/2938	1	1			c.1873C>T						4	SNP	c.(1873-1875)CGG>TGG	53	53			ovary(2)	2	Broad	toll-like receptor 6 precursor			38829222		0.512	ENSG00000174130	15711	g.chr4:38829222G>A	activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity							226.003004	KEEP	44	39	-1	92	82	44	39	-1	232.060757	92	82	0.32906	1	0	0	0	0	1	0	0	0	--	--		0	A			TLR6_uc010ifg.1_Missense_Mutation_p.R625W	73	GBM-06-0877-TP	p.R625W	G	GCCCTGCGCCGAGTCTGGGTC	NM_006068	NP_006059	38829222	Q9Y2C9	TLR6_HUMAN	0			1	1939	-	A	A			Missense_Mutation	625			Cytoplasmic (Potential).			
TLR6	0	broad.mit.edu	GRCh37	4	38830190	38830190	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5211-01	TCGA-28-5211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381950.1:c.905C>T	p.Thr302Met	p.T302M	ENST00000381950		302	aCg/aTg	0	A:0		1			A	T/M	uc003gtm.2	protein_coding		CCDS3446.1			905/2391									ovary(2)	2	c.(904-906)ACG>ATG			hmmpanther:PTHR24365:SF23,hmmpanther:PTHR24365,PIRSF_domain:PIRSF037595	toll-like receptor 6 precursor			A:0.0001	ENSP00000371376		1-Jan	3.29E-05		8.72E-05		0.000151	3.02E-05			rs374845111,COSM3409274	1-Jan	.		ENST00000381950	Transcript			activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	ENSG00000174130	g.chr4:38830190G>A	16711			MODERATE		2.8	medium	getma.org/?cm=msa&ty=f&p=TLR6_HUMAN&rb=134&re=333&var=T302M	getma.org/pdb.php?prot=TLR6_HUMAN&from=134&to=333&var=T302M	getma.org/?cm=var&var=hg19,4,38830190,G,A&fts=all	T302M	--	--	1																																		TLR6_uc010ifg.1_Missense_Mutation_p.T302M	0,1			probably_damaging(0.943)	p.T302M	NM_006068	NP_006059		deleterious(0)	0,1	TLR6_HUMAN	TLR6	HGNC	Q9Y2C9	TLR6_HUMAN			D6RAV7_HUMAN,D6R979_HUMAN		1	971	-			UPI000013EE02	302			Extracellular (Potential).		SNV	TLR6,missense_variant,p.Thr302Met,ENST00000436693,NM_006068.4;TLR6,missense_variant,p.Thr302Met,ENST00000381950,;TLR1,intron_variant,,ENST00000506146,;TLR6,downstream_gene_variant,,ENST00000508254,;TLR6,downstream_gene_variant,,ENST00000514655,;	uc003gtm.2	c.905C>T	971/2938	2	2			c.905C>T						4	SNP	c.(904-906)ACG>ATG	41	41			ovary(2)	2	Broad	toll-like receptor 6 precursor			38830190		0.323	ENSG00000174130	15711	g.chr4:38830190G>A	activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity							16.631668	KEEP	5	5	-1	15	12	5	5	-1	18.078503	15	12	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	A			TLR6_uc010ifg.1_Missense_Mutation_p.T302M	219	GBM-28-5211-TP	p.T302M	G	TTTCAATGTCGTTTTAGAATA	NM_006068	NP_006059	38830190	Q9Y2C9	TLR6_HUMAN	0			1	971	-	A	A			Missense_Mutation	302			Extracellular (Potential).			
TLR6	0	broad.mit.edu	GRCh37	4	38829218	38829218	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381950.1:c.1877G>A	p.Arg626His	p.R626H	ENST00000381950		626	cGc/cAc	0		T:0	1	T:0		T	R/H	uc003gtm.2	protein_coding		CCDS3446.1			1877/2391									ovary(2)	2	c.(1876-1878)CGC>CAC			hmmpanther:PTHR24365:SF23,hmmpanther:PTHR24365,PIRSF_domain:PIRSF037595	toll-like receptor 6 precursor		T:0		ENSP00000371376	T:0.001	1-Jan	9.06E-05		0.000518	0.000116		5.99E-05			rs556706627,COSM3409272	1-Jan	common_variant		ENST00000381950	Transcript		T:0.0002	activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	ENSG00000174130	g.chr4:38829218C>T	16711			MODERATE		0.455	neutral	getma.org/?cm=msa&ty=f&p=TLR6_HUMAN&rb=584&re=643&var=R626H	NA	getma.org/?cm=var&var=hg19,4,38829218,C,T&fts=all	R626H	--	--	1																																		TLR6_uc010ifg.1_Missense_Mutation_p.R626H	0,1			benign(0.004)	p.R626H	NM_006068	NP_006059	T:0	tolerated(0.9)	0,1	TLR6_HUMAN	TLR6	HGNC	Q9Y2C9	TLR6_HUMAN			D6RAV7_HUMAN,D6R979_HUMAN		1	1943	-			UPI000013EE02	626			Cytoplasmic (Potential).		SNV	TLR6,missense_variant,p.Arg626His,ENST00000436693,NM_006068.4;TLR6,missense_variant,p.Arg626His,ENST00000381950,;TLR1,intron_variant,,ENST00000506146,;TLR6,downstream_gene_variant,,ENST00000508254,;TLR6,downstream_gene_variant,,ENST00000514655,;	uc003gtm.2	c.1877G>A	1943/2938	2	2			c.1877G>A						4	SNP	c.(1876-1878)CGC>CAC	17	17			ovary(2)	2	Broad	toll-like receptor 6 precursor			38829218		0.502	ENSG00000174130	15711	g.chr4:38829218C>T	activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity							-44.417841	KEEP	5	5	-1	139	129	5	5	-1	14.325739	139	129	0.03252	1	0	0	0	0	1	0	0	0	--	--		0	T			TLR6_uc010ifg.1_Missense_Mutation_p.R626H	246	GBM-32-4211-TP	p.R626H	C	CCTGGCCCTGCGCCGAGTCTG	NM_006068	NP_006059	38829218	Q9Y2C9	TLR6_HUMAN	0			1	1943	-	T	T			Missense_Mutation	626			Cytoplasmic (Potential).			
TLR6	10333		GRCh37	4	38830189	38830189	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000436693.2:c.906G>A	p.Thr302=	p.T302=	ENST00000436693	NM_006068.4	302	acG/acA	0																																																																																																																																																																																																																																												
TLR7	0	broad.mit.edu	GRCh37	X	12903821	12903821	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01	TCGA-19-5950-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380659.3:c.194C>T	p.Thr65Met	p.T65M	ENST00000380659	NM_016562.3	65	aCg/aTg	0			1			T	T/M	uc004cvc.2	protein_coding	YES	CCDS14151.1			194/3150									ovary(2)|lung(2)|breast(1)	5	c.(193-195)ACG>ATG			Superfamily_domains:SSF52058,Gene3D:3.80.10.10,hmmpanther:PTHR24365:SF222,hmmpanther:PTHR24365,Low_complexity_(Seg):seg	toll-like receptor 7 precursor	Imiquimod(DB00724)			ENSP00000370034		3-Mar									rs200329031,COSM2156581	3-Mar	.		ENST00000380659	Transcript			cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	ENSG00000196664	g.chrX:12903821C>T	15631			MODERATE		2.06	medium	getma.org/?cm=msa&ty=f&p=TLR7_HUMAN&rb=1&re=200&var=T65M	getma.org/pdb.php?prot=TLR7_HUMAN&from=1&to=200&var=T65M	getma.org/?cm=var&var=hg19,X,12903821,C,T&fts=all	T65M	--	--	1																																			0,1	1		benign(0.018)	p.T65M	NM_016562	NP_057646		tolerated(0.1)	0,1	TLR7_HUMAN	TLR7	HGNC	Q9NYK1	TLR7_HUMAN			B2R9N9_HUMAN		3	333	+			UPI000004BAF6	65			Extracellular (Potential).|LRR 2.		SNV	TLR7,missense_variant,p.Thr65Met,ENST00000380659,NM_016562.3;	uc004cvc.2	c.194C>T	333/5011	2	2			c.194C>T						23	SNP	c.(193-195)ACG>ATG	41	41			ovary(2)|lung(2)|breast(1)	5	Broad	toll-like receptor 7 precursor		Imiquimod(DB00724)	12903821		0.488	ENSG00000196664	15712	g.chrX:12903821C>T	cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			69			69	198.094322	KEEP	28	39	-1	36	46	28	39	-1	198.353531	36	46	0.453901	1	0	0	0	0	1	0	0	0	--	--		0	T				170	GBM-19-5950-TP	p.T65M	C	GGTATTCCCACGAACACCACG	NM_016562	NP_057646	12903821	Q9NYK1	TLR7_HUMAN	0			3	333	+	T	T			Missense_Mutation	65			Extracellular (Potential).|LRR 2.			
TLR7	0	broad.mit.edu	GRCh37	X	12906487	12906487	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01	TCGA-28-5208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380659.3:c.2860G>A	p.Val954Met	p.V954M	ENST00000380659	NM_016562.3	954	Gtg/Atg	0			1			A	V/M	uc004cvc.2	protein_coding	YES	CCDS14151.1			2860/3150									ovary(2)|lung(2)|breast(1)	5	c.(2860-2862)GTG>ATG			Superfamily_domains:SSF52200,SMART_domains:SM00255,Gene3D:3.40.50.10140,Pfam_domain:PF01582,hmmpanther:PTHR24365:SF222,hmmpanther:PTHR24365,PROSITE_profiles:PS50104	toll-like receptor 7 precursor	Imiquimod(DB00724)			ENSP00000370034		3-Mar									COSM3405954	3-Mar	.		ENST00000380659	Transcript			cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	ENSG00000196664	g.chrX:12906487G>A	15631			MODERATE		2.62	medium	getma.org/?cm=msa&ty=f&p=TLR7_HUMAN&rb=893&re=1032&var=V954M	getma.org/pdb.php?prot=TLR7_HUMAN&from=893&to=1032&var=V954M	getma.org/?cm=var&var=hg19,X,12906487,G,A&fts=all	V954M	--	--	1																																			1	1		possibly_damaging(0.868)	p.V954M	NM_016562	NP_057646		deleterious(0.02)	1	TLR7_HUMAN	TLR7	HGNC	Q9NYK1	TLR7_HUMAN			B2R9N9_HUMAN		3	2999	+			UPI000004BAF6	954			TIR.|Cytoplasmic (Potential).		SNV	TLR7,missense_variant,p.Val954Met,ENST00000380659,NM_016562.3;	uc004cvc.2	c.2860G>A	2999/5011	2	2			c.2860G>A						23	SNP	c.(2860-2862)GTG>ATG	38	38			ovary(2)|lung(2)|breast(1)	5	Broad	toll-like receptor 7 precursor		Imiquimod(DB00724)	12906487		0.388	ENSG00000196664	15712	g.chrX:12906487G>A	cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			69			69	804.377236	KEEP	105	152	-1	17	21	105	152	-1	837.620702	17	21	0.860377	1	0	0	0	0	1	0	0	0	--	--		0	A				217	GBM-28-5208-TP	p.V954M	G	CAAAAAGACAGTGTTTGTGAT	NM_016562	NP_057646	12906487	Q9NYK1	TLR7_HUMAN	0			3	2999	+	A	A			Missense_Mutation	954			TIR.|Cytoplasmic (Potential).			
TLR7	51284		GRCh37	X	12906437	12906437	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000380659.3:c.2810A>T	p.Gln937Leu	p.Q937L	ENST00000380659	NM_016562.3	937	cAg/cTg	0																																																																																																																																																																																																																																												
TLR8	51311	broad.mit.edu	GRCh37	X	12939911	12939911	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000218032.6:c.2752G>A	p.Glu918Lys	p.E918K	ENST00000218032	NM_138636.4	918	Gag/Aag	0			1			A	E/K	uc004cve.2	protein_coding	YES	CCDS14152.1			2752/3126									ovary(4)|lung(2)|large_intestine(1)	7	c.(2752-2754)GAG>AAG			PROSITE_profiles:PS50104,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF227,Pfam_domain:PF01582,Gene3D:3.40.50.10140,SMART_domains:SM00255,Superfamily_domains:SSF52200	toll-like receptor 8 precursor				ENSP00000218032		2-Feb									COSM2151198	2-Feb	.		ENST00000218032	Transcript			cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	ENSG00000101916	g.chrX:12939911G>A	15632			MODERATE		3.05	medium	getma.org/?cm=msa&ty=f&p=TLR8_HUMAN&rb=882&re=1021&var=E918K	getma.org/pdb.php?prot=TLR8_HUMAN&from=882&to=1021&var=E918K	getma.org/?cm=var&var=hg19,X,12939911,G,A&fts=all	E918K	--	--	1																																		TLR8_uc004cvd.2_Missense_Mutation_p.E936K	1	1		probably_damaging(0.973)	p.E918K	NM_138636	NP_619542		deleterious(0)	1	TLR8_HUMAN	TLR8	HGNC	Q9NR97	TLR8_HUMAN			Q8NC00_HUMAN,B4DLJ2_HUMAN		2	2820	+			UPI000004BAFC	918			Cytoplasmic (Potential).|TIR.		SNV	TLR8,missense_variant,p.Glu918Lys,ENST00000218032,NM_138636.4;TLR8,missense_variant,p.Glu936Lys,ENST00000311912,;	uc004cve.2	c.2752G>A	2839/4216	1	1			c.2752G>A						23	SNP	c.(2752-2754)GAG>AAG	55	55			ovary(4)|lung(2)|large_intestine(1)	7	Broad	toll-like receptor 8 precursor			12939911		0.443	ENSG00000101916	15713	g.chrX:12939911G>A	cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity							220.13477	KEEP	37	34	-1	28	33	37	34	-1	220.545571	28	33	0.563025	1	0	0	0	0	1	0	0	0	--	--		0	A			TLR8_uc004cvd.2_Missense_Mutation_p.E936K	58	GBM-06-0644-TP	p.E918K	G	CCTTTGTCTAGAGGAGAGGGA	NM_138636	NP_619542	12939911	Q9NR97	TLR8_HUMAN	0			2	2820	+	A	A			Missense_Mutation	918			Cytoplasmic (Potential).|TIR.			
TLR9	54106	broad.mit.edu	GRCh37	3	52255367	52255367	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-2563-01	TCGA-06-2563-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360658.2:c.2965C>A	p.Arg989Ser	p.R989S	ENST00000360658	NM_017442.3	989	Cgc/Agc	0			1			T	R/S	uc003dda.1	protein_coding	YES	CCDS2848.1			2965/3099									large_intestine(2)|skin(2)	4	c.(2965-2967)CGC>AGC			Gene3D:3.40.50.10140,Pfam_domain:PF01582,PROSITE_profiles:PS50104,Low_complexity_(Seg):seg,SMART_domains:SM00255,Superfamily_domains:SSF52200	toll-like receptor 9 isoform A precursor	Chloroquine(DB00608)			ENSP00000353874		2-Feb	8.25E-06					1.59E-05			rs747414072,COSM2152900	2-Feb	.		ENST00000360658	Transcript			defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	ENSG00000239732	g.chr3:52255367G>T	15633			MODERATE		1.535	low	getma.org/?cm=msa&ty=f&p=TLR9_HUMAN&rb=872&re=1012&var=R989S	getma.org/pdb.php?prot=TLR9_HUMAN&from=872&to=1012&var=R989S	getma.org/?cm=var&var=hg19,3,52255367,G,T&fts=all	R989S	--	--	1																																		TLR9_uc003ddb.2_Missense_Mutation_p.R1086S	0,1	1		benign(0.191)	p.R989S	NM_017442	NP_059138		deleterious(0.01)	0,1	TLR9_HUMAN	TLR9	HGNC	Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	C3W5P5_HUMAN		2	3599	-			UPI0000001625	989			TIR.|Cytoplasmic (Potential).		SNV	TLR9,missense_variant,p.Arg1013Ser,ENST00000597542,;TLR9,missense_variant,p.Arg989Ser,ENST00000360658,NM_017442.3;TLR9,missense_variant,p.Arg1143Ser,ENST00000494383,;TLR9,downstream_gene_variant,,ENST00000478201,;	uc003dda.1	c.2965C>A	3599/3870	2	2			c.2965C>A						3	SNP	c.(2965-2967)CGC>AGC	20	20			large_intestine(2)|skin(2)	4	Broad	toll-like receptor 9 isoform A precursor		Chloroquine(DB00608)	52255367		0.687	ENSG00000239732	15714	g.chr3:52255367G>T	defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			82			82	73.0948	KEEP	14	17	0.451612903	20	15	14	17	0.451612903	73.161741	20	15	0.461538	1	0	0	0	0	1	0	0	0	--	--		0	T			TLR9_uc003ddb.2_Missense_Mutation_p.R1086S	86	GBM-06-2563-TP	p.R989S	G	ACACTCTGGCGGCAGAGGCGC	NM_017442	NP_059138	52255367	Q9NR96	TLR9_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	3599	-	T	T			Missense_Mutation	989			TIR.|Cytoplasmic (Potential).			
TLR9	0	broad.mit.edu	GRCh37	3	52257538	52257538	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-5947-01	TCGA-19-5947-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360658.2:c.794G>T	p.Cys265Phe	p.C265F	ENST00000360658	NM_017442.3	265	tGc/tTc	0			1			A	C/F	uc003dda.1	protein_coding	YES	CCDS2848.1			794/3099									large_intestine(2)|skin(2)	4	c.(793-795)TGC>TTC			Gene3D:3.80.10.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF37,Superfamily_domains:SSF52058	toll-like receptor 9 isoform A precursor	Chloroquine(DB00608)			ENSP00000353874		2-Feb									COSM3408781	2-Feb	.		ENST00000360658	Transcript			defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	ENSG00000239732	g.chr3:52257538C>A	15633			MODERATE		2.8	medium	getma.org/?cm=msa&ty=f&p=TLR9_HUMAN&rb=244&re=283&var=C265F	NA	getma.org/?cm=var&var=hg19,3,52257538,C,A&fts=all	C265F	--	--	1																																		TLR9_uc003ddb.2_Missense_Mutation_p.C362F	1	1		probably_damaging(0.999)	p.C265F	NM_017442	NP_059138		deleterious(0)	1	TLR9_HUMAN	TLR9	HGNC	Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	C3W5P5_HUMAN		2	1428	-			UPI0000001625	265			LRR 8.|Extracellular (Potential).		SNV	TLR9,missense_variant,p.Cys289Phe,ENST00000597542,;TLR9,missense_variant,p.Cys265Phe,ENST00000360658,NM_017442.3;TLR9,missense_variant,p.Cys419Phe,ENST00000494383,;TLR9,downstream_gene_variant,,ENST00000478201,;	uc003dda.1	c.794G>T	1428/3870	2	2			c.794G>T						3	SNP	c.(793-795)TGC>TTC	35	35			large_intestine(2)|skin(2)	4	Broad	toll-like receptor 9 isoform A precursor		Chloroquine(DB00608)	52257538		0.617	ENSG00000239732	15714	g.chr3:52257538C>A	defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			82			82	-1.911856	KEEP	3	1	0.25	21	25	3	1	0.25	6.846818	21	25	0.066667	1	0	0	0	0	1	0	0	0	--	--		0	A			TLR9_uc003ddb.2_Missense_Mutation_p.C362F	169	GBM-19-5947-TP	p.C265F	C	GCACTCCATGCAGGGGTTGGG	NM_017442	NP_059138	52257538	Q9NR96	TLR9_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	1428	-	A	A			Missense_Mutation	265			LRR 8.|Extracellular (Potential).			
TLX3	30012	broad.mit.edu	GRCh37	5	170736674	170736674	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5411-01	TCGA-06-5411-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296921.5:c.305C>T	p.Pro102Leu	p.P102L	ENST00000296921	NM_021025.2	102	cCg/cTg	0			1			T	P/L	uc003mbf.2	protein_coding	YES	CCDS34288.1			305/876	T		BCL11B		T-ALL				central_nervous_system(1)	1	c.(304-306)CCG>CTG			hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF154,Low_complexity_(Seg):seg	T-cell leukemia homeobox 3				ENSP00000296921		3-Jan									COSM3410139	3-Jan	.		ENST00000296921	Transcript	1			nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000164438	g.chr5:170736674C>T	13532			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=TLX3_HUMAN&rb=1&re=166&var=P102L	NA	getma.org/?cm=var&var=hg19,5,170736674,C,T&fts=all	P102L	--	--	1																																		uc003mbe.1_5'Flank	1	1		benign(0.285)	p.P102L	NM_021025	NP_066305		deleterious(0.03)	1	TLX3_HUMAN	TLX3	HGNC	O43711	TLX3_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)				1	387	+	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	UPI000013E3AA	102					SNV	TLX3,missense_variant,p.Pro102Leu,ENST00000296921,NM_021025.2;	uc003mbf.2	c.305C>T	387/1493	2	2			c.305C>T	T		BCL11B		T-ALL	5	SNP	c.(304-306)CCG>CTG	29	29			central_nervous_system(1)	1	Broad	T-cell leukemia homeobox 3			170736674		0.701	ENSG00000164438	15717	g.chr5:170736674C>T		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	Esophageal Squamous(33;43 807 3116 3348 30094)		30	Esophageal Squamous(33;43 807 3116 3348 30094)		30	20.316053	KEEP	4	3	-1	7	11	4	3	-1	21.248571	7	11	0.291667	1	0	0	0	0	1	0	0	0	--	--		0	T			uc003mbe.1_5'Flank	94	GBM-06-5411-TP	p.P102L	C	GCCGTGCCACCGCCTCTGCCA	NM_021025	NP_066305	170736674	O43711	TLX3_HUMAN	0	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		1	387	+	T	T	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Missense_Mutation	102						
TM2D1	83941	broad.mit.edu	GRCh37	1	62190731	62190731	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0875-01	TCGA-06-0875-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371180.2:c.248G>T	p.Gly83Val	p.G83V	ENST00000371180	NM_032027.2	83	gGt/gTt	0			1			A	G/V	uc001czz.1	protein_coding					62/624									ovary(1)	1	c.(61-63)GGT>GTT			Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM	beta-amyloid binding protein precursor				ENSP00000294613		7-Jan	8.27E-06					1.53E-05			rs757751061,COSM3400937,COSM3400938	7-Jan	.		ENST00000294613	Transcript			apoptosis			ENSG00000162604	g.chr1:62190731C>A	24142			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=TM2D1_HUMAN&rb=1&re=116&var=G21V	NA	getma.org/?cm=var&var=hg19,1,62190731,C,A&fts=all	G21V	--	--	1																																			0,1,1			benign(0.026)	p.G21V	NM_032027	NP_114416		tolerated_low_confidence(0.17)	0,1,1	TM2D1_HUMAN	TM2D1	HGNC	Q9BX74	TM2D1_HUMAN					1	365	-			UPI000006D36C	21					SNV	TM2D1,missense_variant,p.Gly21Val,ENST00000371177,;TM2D1,missense_variant,p.Gly21Val,ENST00000294613,;TM2D1,missense_variant,p.Gly83Val,ENST00000371180,NM_032027.2;TM2D1,missense_variant,p.Gly21Val,ENST00000606498,;TM2D1,missense_variant,p.Gly19Val,ENST00000488206,;TM2D1,missense_variant,p.Gly4Val,ENST00000468586,;TM2D1,missense_variant,p.Gly21Val,ENST00000496465,;TM2D1,non_coding_transcript_exon_variant,,ENST00000371178,;TM2D1,upstream_gene_variant,,ENST00000494926,;	uc001czz.1	c.62G>T	365/1250	1	1			c.62G>T						1	SNP	c.(61-63)GGT>GTT	64	64			ovary(1)	1	Broad	beta-amyloid binding protein precursor			62190731		0.657	ENSG00000162604	15718	g.chr1:62190731C>A	apoptosis									131.702801	KEEP	22	26	0.541666667	36	29	22	26	0.541666667	132.347542	36	29	0.412371	1	0	0	0	0	1	0	0	0	--	--		0	A				71	GBM-06-0875-TP	p.G21V	C	CCACAGGACACCAACGAGTCT	NM_032027	NP_114416	62190731	Q9BX74	TM2D1_HUMAN	0			1	365	-	A	A			Missense_Mutation	21						
TM2D1	0	broad.mit.edu	GRCh37	1	62190705	62190705	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-16-0846-01	TCGA-16-0846-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294613.5:c.88A>T	p.Thr30Ser	p.T30S	ENST00000294613		30	Aca/Tca	0			1			A	T/S	uc001czz.1	protein_coding					88/624									ovary(1)	1	c.(88-90)ACA>TCA			Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM	beta-amyloid binding protein precursor				ENSP00000294613		7-Jan									COSM3400935,COSM3400936	7-Jan	.		ENST00000294613	Transcript			apoptosis			ENSG00000162604	g.chr1:62190705T>A	24142			MODERATE		0.755	neutral	getma.org/?cm=msa&ty=f&p=TM2D1_HUMAN&rb=1&re=116&var=T30S	NA	getma.org/?cm=var&var=hg19,1,62190705,T,A&fts=all	T30S	--	--	1																																			1,1			benign(0.001)	p.T30S	NM_032027	NP_114416		tolerated(0.52)	1,1	TM2D1_HUMAN	TM2D1	HGNC	Q9BX74	TM2D1_HUMAN					1	391	-			UPI000006D36C	30					SNV	TM2D1,missense_variant,p.Thr30Ser,ENST00000371177,;TM2D1,missense_variant,p.Thr30Ser,ENST00000294613,;TM2D1,missense_variant,p.Thr92Ser,ENST00000371180,NM_032027.2;TM2D1,missense_variant,p.Thr30Ser,ENST00000606498,;TM2D1,missense_variant,p.Thr28Ser,ENST00000488206,;TM2D1,missense_variant,p.Thr13Ser,ENST00000468586,;TM2D1,missense_variant,p.Thr30Ser,ENST00000496465,;TM2D1,missense_variant,p.Thr7Ser,ENST00000494926,;TM2D1,non_coding_transcript_exon_variant,,ENST00000371178,;	uc001czz.1	c.88A>T	391/1250	2	2			c.88A>T						1	SNP	c.(88-90)ACA>TCA	32	32			ovary(1)	1	Broad	beta-amyloid binding protein precursor			62190705		0.647	ENSG00000162604	15718	g.chr1:62190705T>A	apoptosis									60.801218	KEEP	10	15	-1	27	28	10	15	-1	63.298655	27	28	0.306667	1	0	0	0	0	1	0	0	0	--	--		0	A				155	GBM-16-0846-TP	p.T30S	T	CAGGGTCCTGTAGTGACTGAG	NM_032027	NP_114416	62190705	Q9BX74	TM2D1_HUMAN	0			1	391	-	A	A			Missense_Mutation	30						
TM4SF1	0	broad.mit.edu	GRCh37	3	149093335	149093335	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-2638-01	TCGA-32-2638-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305366.3:c.308G>C	p.Gly103Ala	p.G103A	ENST00000305366	NM_014220.2	103	gGa/gCa	0			1			G	G/A	uc003exb.1	protein_coding	YES	CCDS3143.1			308/609										0	c.(307-309)GGA>GCA			Pfam_domain:PF05805,hmmpanther:PTHR14198,hmmpanther:PTHR14198:SF18,Transmembrane_helices:TMhelix	transmembrane 4 superfamily member 1				ENSP00000304277		5-Mar									COSM3408343	5-Mar	.		ENST00000305366	Transcript				integral to plasma membrane		ENSG00000169908	g.chr3:149093335C>G	11853			MODERATE		3.245	medium	getma.org/?cm=msa&ty=f&p=T4S1_HUMAN&rb=1&re=195&var=G103A	NA	getma.org/?cm=var&var=hg19,3,149093335,C,G&fts=all	G103A	--	--	1																																		TM4SF1_uc003exc.1_Missense_Mutation_p.G14A	1	1		possibly_damaging(0.583)	p.G103A	NM_014220	NP_055035		deleterious(0.02)	1	T4S1_HUMAN	TM4SF1	HGNC	P30408	T4S1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)				3	542	-			UPI0000044E0A	103			Helical; (Probable).		SNV	TM4SF1,missense_variant,p.Gly14Ala,ENST00000472441,;TM4SF1,missense_variant,p.Gly103Ala,ENST00000305366,NM_014220.2;TM4SF1-AS1,upstream_gene_variant,,ENST00000496491,;TM4SF1-AS1,upstream_gene_variant,,ENST00000484046,;TM4SF1,3_prime_UTR_variant,,ENST00000493298,;TM4SF1,intron_variant,,ENST00000493348,;	uc003exb.1	c.308G>C	626/1771	3	3			c.308G>C						3	SNP	c.(307-309)GGA>GCA	6	6				0	Broad	transmembrane 4 superfamily member 1			149093335		0.507	ENSG00000169908	15721	g.chr3:149093335C>G		integral to plasma membrane								91.716649	KEEP	17	13	-1	19	19	17	13	-1	91.776966	19	19	0.465517	1	0	0	0	0	1	0	0	0	--	--		0	G			TM4SF1_uc003exc.1_Missense_Mutation_p.G14A	242	GBM-32-2638-TP	p.G103A	C	GTAGCCAGATCCTGCAATTCC	NM_014220	NP_055035	149093335	P30408	T4S1_HUMAN	0	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		3	542	-	G	G			Missense_Mutation	103			Helical; (Probable).			
TM4SF18	116441	broad.mit.edu	GRCh37	3	149051122	149051122	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-0195-01	TCGA-06-0195-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296059.2:c.48G>T	p.Pro16=	p.P16=	ENST00000296059	NM_138786.3	16	ccG/ccT	0			1			A	P	uc003exa.2	protein_coding	YES	CCDS3142.1			48/606									ovary(1)	1	c.(46-48)CCG>CCT			Pfam_domain:PF05805,hmmpanther:PTHR14198,hmmpanther:PTHR14198:SF14,Transmembrane_helices:TMhelix	transmembrane 4 L six family member 18				ENSP00000296059		6-Feb									COSM3408342	6-Feb	.		ENST00000296059	Transcript				integral to membrane		ENSG00000163762	g.chr3:149051122C>A	25181			LOW								--	--	1																																			1	1			p.P16P	NM_138786	NP_620141			1	T4S18_HUMAN	TM4SF18	HGNC	Q96CE8	T4S18_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		C9J6Q4_HUMAN		2	185	-			UPI000006F129	16			Helical; (Potential).		SNV	TM4SF18,synonymous_variant,p.=,ENST00000296059,NM_138786.3;TM4SF18,synonymous_variant,p.=,ENST00000470080,NM_001184723.1;TM4SF18,synonymous_variant,p.=,ENST00000474754,;RP11-206M11.7,intron_variant,,ENST00000489011,;TM4SF18,non_coding_transcript_exon_variant,,ENST00000491182,;TM4SF18,upstream_gene_variant,,ENST00000468398,;	uc003exa.2	c.48G>T	314/3852	1	1			c.48G>T						3	SNP	c.(46-48)CCG>CCT	49	49			ovary(1)	1	Broad	transmembrane 4 L six family member 18			149051122		0.443	ENSG00000163762	15722	g.chr3:149051122C>A		integral to membrane								25.09417	KEEP	8	3	0.272727273	19	34	8	3	0.272727273	30.315956	19	34	0.189655	1	0	0	0	0	0	0	1	0	--	--		0	A				45	GBM-06-0195-TP	p.P16P	C	AAAGTGCAAGCGGAATCAGCA	NM_138786	NP_620141	149051122	Q96CE8	T4S18_HUMAN	0	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		2	185	-	A	A			Silent	16			Helical; (Potential).			
TM4SF19	116211	broad.mit.edu	GRCh37	3	196051173	196051173	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0189-01	TCGA-06-0189-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273695.3:c.418T>C	p.Tyr140His	p.Y140H	ENST00000273695	NM_138461.3	140	Tat/Cat	0			1			G	Y/H	uc003fwl.1	protein_coding	YES	CCDS3316.1			418/630										0	c.(418-420)TAT>CAT			Pfam_domain:PF05805,hmmpanther:PTHR14198,hmmpanther:PTHR14198:SF19	transmembrane 4 L six family member 19				ENSP00000273695		5-Apr									COSM3408549	5-Apr	.		ENST00000273695	Transcript				integral to membrane		ENSG00000145107	g.chr3:196051173A>G	25167			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=T4S19_HUMAN&rb=9&re=209&var=Y140H	NA	getma.org/?cm=var&var=hg19,3,196051173,A,G&fts=all	Y140H	--	--	1																																		TM4SF19_uc003fwj.2_RNA|uc003fwk.1_3'UTR|TM4SF19_uc010iad.1_Missense_Mutation_p.Y140H|TM4SF19_uc011btv.1_Missense_Mutation_p.Y114H	1	1		benign(0.144)	p.Y140H	NM_138461	NP_612470		deleterious(0.05)	1	T4S19_HUMAN	TM4SF19	HGNC	Q96DZ7	T4S19_HUMAN	Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)			4	543	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		UPI000013D9CC	140			Extracellular (Potential).		SNV	TM4SF19,missense_variant,p.Tyr140His,ENST00000446879,;TM4SF19,missense_variant,p.Tyr114His,ENST00000454715,NM_001204898.1;TM4SF19,missense_variant,p.Tyr140His,ENST00000273695,NM_138461.3,NM_001204897.1;TM4SF19,missense_variant,p.Tyr8His,ENST00000440822,;TM4SF19-AS1,non_coding_transcript_exon_variant,,ENST00000452051,;TM4SF19-AS1,downstream_gene_variant,,ENST00000444939,;TM4SF19-AS1,downstream_gene_variant,,ENST00000420226,;TM4SF19,missense_variant,p.Tyr140His,ENST00000442633,;	uc003fwl.1	c.418T>C	544/1022	3	3			c.418T>C						3	SNP	c.(418-420)TAT>CAT	15	15				0	Broad	transmembrane 4 L six family member 19			196051173		0.438	ENSG00000145107	15723	g.chr3:196051173A>G		integral to membrane								-0.050587	KEEP	1	6	-1	69	39	1	6	-1	19.027127	69	39	0.07	1	0	0	0	0	1	0	0	0	--	--		0	G			TM4SF19_uc003fwj.2_RNA|uc003fwk.1_3'UTR|TM4SF19_uc010iad.1_Missense_Mutation_p.Y140H|TM4SF19_uc011btv.1_Missense_Mutation_p.Y114H	42	GBM-06-0189-TP	p.Y140H	A	GGGTAACCATATTTCCAAGCT	NM_138461	NP_612470	196051173	Q96DZ7	T4S19_HUMAN	0	Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)	4	543	-	G	G	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Missense_Mutation	140			Extracellular (Potential).			
TM7SF2	7108		GRCh37	11	64882420	64882420	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000279263.7:c.759C>T	p.Asp253=	p.D253=	ENST00000279263	NM_003273.3	253	gaC/gaT	0																																																																																																																																																																																																																																												
TM9SF1	0	broad.mit.edu	GRCh37	14	24661549	24661549	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01	TCGA-32-2634-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261789.4:c.981G>A	p.Met327Ile	p.M327I	ENST00000261789	NM_006405.5	327	atG/atA	0			1			T	M/I	uc001wnb.1	protein_coding	YES	CCDS9617.1			981/1821									ovary(1)	1	c.(979-981)ATG>ATA			Pfam_domain:PF02990,hmmpanther:PTHR10766,hmmpanther:PTHR10766:SF14,Transmembrane_helices:TMhelix	transmembrane 9 superfamily member 1 isoform a				ENSP00000261789		6-Apr	8.24E-06	9.70E-05							rs759347812,COSM3401257	6-Apr	.		ENST00000261789	Transcript			autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		ENSG00000100926	g.chr14:24661549C>T	11864			MODERATE		0.465	neutral	getma.org/?cm=msa&ty=f&p=TM9S1_HUMAN&rb=57&re=564&var=M327I	NA	getma.org/?cm=var&var=hg19,14,24661549,C,T&fts=all	M327I	--	--	1																																		IPO4_uc001wmx.1_5'Flank|IPO4_uc001wmy.1_5'Flank|IPO4_uc010tnz.1_5'Flank|IPO4_uc001wmw.1_5'Flank|IPO4_uc001wmz.1_5'Flank|TM9SF1_uc010toa.1_Missense_Mutation_p.M240I|TM9SF1_uc001wna.1_RNA|TM9SF1_uc010tob.1_Missense_Mutation_p.M562I|TM9SF1_uc001wnc.2_Missense_Mutation_p.M327I|TM9SF1_uc001wnd.2_Missense_Mutation_p.M183I	0,1	1		benign(0.102)	p.M327I	NM_006405	NP_006396		deleterious(0.03)	0,1	TM9S1_HUMAN	TM9SF1	HGNC	O15321	TM9S1_HUMAN		GBM - Glioblastoma multiforme(265;0.0183)	G3V1B9_HUMAN,E9PS99_HUMAN,E9PQY7_HUMAN,E9PNW2_HUMAN,E9PL78_HUMAN,E9PJC4_HUMAN		4	1329	-			UPI000000CC18	327			Helical; (Potential).		SNV	TM9SF1,missense_variant,p.Met536Ile,ENST00000556387,;TM9SF1,missense_variant,p.Met536Ile,ENST00000530611,;TM9SF1,missense_variant,p.Met327Ile,ENST00000261789,NM_006405.5;TM9SF1,missense_variant,p.Met327Ile,ENST00000528669,;TM9SF1,missense_variant,p.Met327Ile,ENST00000396854,NM_001014842.1;TM9SF1,missense_variant,p.Met240Ile,ENST00000524835,;TM9SF1,intron_variant,,ENST00000532632,;IPO4,upstream_gene_variant,,ENST00000354464,NM_024658.3;TM9SF1,downstream_gene_variant,,ENST00000530468,;TM9SF1,downstream_gene_variant,,ENST00000528895,;TM9SF1,downstream_gene_variant,,ENST00000528010,;TM9SF1,downstream_gene_variant,,ENST00000525592,;TM9SF1,downstream_gene_variant,,ENST00000530563,;TM9SF1,missense_variant,p.Met327Ile,ENST00000529332,;TM9SF1,non_coding_transcript_exon_variant,,ENST00000531406,;RP11-468E2.2,upstream_gene_variant,,ENST00000561419,;IPO4,upstream_gene_variant,,ENST00000561090,;IPO4,upstream_gene_variant,,ENST00000560798,;IPO4,upstream_gene_variant,,ENST00000558780,;IPO4,upstream_gene_variant,,ENST00000559588,;IPO4,upstream_gene_variant,,ENST00000560155,;IPO4,upstream_gene_variant,,ENST00000558046,;IPO4,upstream_gene_variant,,ENST00000561199,;IPO4,upstream_gene_variant,,ENST00000559253,;IPO4,upstream_gene_variant,,ENST00000560222,;IPO4,upstream_gene_variant,,ENST00000560315,;IPO4,upstream_gene_variant,,ENST00000558193,;IPO4,upstream_gene_variant,,ENST00000558718,;IPO4,upstream_gene_variant,,ENST00000561034,;IPO4,upstream_gene_variant,,ENST00000557996,;IPO4,upstream_gene_variant,,ENST00000559635,;	uc001wnb.1	c.981G>A	1340/2452	1	1			c.981G>A						14	SNP	c.(979-981)ATG>ATA	7	7			ovary(1)	1	Broad	transmembrane 9 superfamily member 1 isoform a			24661549		0.537	ENSG00000100926	15732	g.chr14:24661549C>T	autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane								20.284851	KEEP	6	2	-1	14	12	6	2	-1	21.761309	14	12	0.266667	1	0	0	0	0	1	0	0	0	--	--		0	T			IPO4_uc001wmx.1_5'Flank|IPO4_uc001wmy.1_5'Flank|IPO4_uc010tnz.1_5'Flank|IPO4_uc001wmw.1_5'Flank|IPO4_uc001wmz.1_5'Flank|TM9SF1_uc010toa.1_Missense_Mutation_p.M240I|TM9SF1_uc001wna.1_RNA|TM9SF1_uc010tob.1_Missense_Mutation_p.M562I|TM9SF1_uc001wnc.2_Missense_Mutation_p.M327I|TM9SF1_uc001wnd.2_Missense_Mutation_p.M183I	241	GBM-32-2634-TP	p.M327I	C	CCAGCAGTGCCATGACAATAA	NM_006405	NP_006396	24661549	O15321	TM9S1_HUMAN	0		GBM - Glioblastoma multiforme(265;0.0183)	4	1329	-	T	T			Missense_Mutation	327			Helical; (Potential).			
TM9SF4	0	broad.mit.edu	GRCh37	20	30745712	30745712	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01	TCGA-27-2519-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398022.2:c.1445G>A	p.Arg482His	p.R482H	ENST00000398022	NM_014742.3	482	cGc/cAc	0			1			A	R/H	uc002wxj.2	protein_coding	YES	CCDS13196.2			1445/1929									central_nervous_system(1)|pancreas(1)	2	c.(1444-1446)CGC>CAC			hmmpanther:PTHR10766,hmmpanther:PTHR10766:SF34,Pfam_domain:PF02990	transmembrane 9 superfamily protein member 4				ENSP00000381104		14/18									COSM3405016,COSM3405015	14/18	.		ENST00000398022	Transcript				integral to membrane		ENSG00000101337	g.chr20:30745712G>A	30797			MODERATE		3.26	medium	getma.org/?cm=msa&ty=f&p=TM9S4_HUMAN&rb=54&re=600&var=R482H	NA	getma.org/?cm=var&var=hg19,20,30745712,G,A&fts=all	R482H	--	--	1																																		TM9SF4_uc010zts.1_Missense_Mutation_p.R389H|TM9SF4_uc002wxk.2_Missense_Mutation_p.R465H|TM9SF4_uc010gdz.2_Missense_Mutation_p.R361H	1,1	1		probably_damaging(0.909)	p.R482H	NM_014742	NP_055557		deleterious(0.01)	1,1	TM9S4_HUMAN	TM9SF4	HGNC	Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		B4DH88_HUMAN		14	1680	+			UPI0000206163	482					SNV	TM9SF4,missense_variant,p.Arg465His,ENST00000217315,;TM9SF4,missense_variant,p.Arg482His,ENST00000398022,NM_014742.3;TM9SF4,upstream_gene_variant,,ENST00000495749,;TM9SF4,upstream_gene_variant,,ENST00000479591,;	uc002wxj.2	c.1445G>A	1680/3978	2	2			c.1445G>A						20	SNP	c.(1444-1446)CGC>CAC	37	37			central_nervous_system(1)|pancreas(1)	2	Broad	transmembrane 9 superfamily protein member 4			30745712		0.587	ENSG00000101337	15735	g.chr20:30745712G>A		integral to membrane								108.778164	KEEP	33	38	-1	111	107	33	38	-1	118.841985	111	107	0.251397	1	0	0	0	0	1	0	0	0	--	--		0	A			TM9SF4_uc010zts.1_Missense_Mutation_p.R389H|TM9SF4_uc002wxk.2_Missense_Mutation_p.R465H|TM9SF4_uc010gdz.2_Missense_Mutation_p.R361H	199	GBM-27-2519-TP	p.R482H	G	AACCCTGTGCGCACCAACCAG	NM_014742	NP_055557	30745712	Q92544	TM9S4_HUMAN	0	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		14	1680	+	A	A			Missense_Mutation	482						
TMA16	0	broad.mit.edu	GRCh37	4	164415798	164415798	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T			TCGA-12-3649-01	TCGA-12-3649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358572.5:c.-156C>T		*52*	ENST00000358572	NM_018352.2			0			1			T		uc003iqq.3	protein_coding	YES	CCDS43278.1			-/612										0	c.(-157--153)AACGC>AATGC				hypothetical protein LOC55319				ENSP00000351380		7-Jan										7-Jan	.		ENST00000358572	Transcript						ENSG00000198498	g.chr4:164415798C>T	25638			MODIFIER								--	--	1																																				1				NM_018352	NP_060822				TMA16_HUMAN	TMA16	HGNC	Q96EY4	CD043_HUMAN			D6RA57_HUMAN		1	126	+			UPI0000457298						SNV	TMA16,5_prime_UTR_variant,,ENST00000358572,NM_018352.2;TMA16,intron_variant,,ENST00000509657,;TMA16,upstream_gene_variant,,ENST00000513272,;TMA16,upstream_gene_variant,,ENST00000513134,;TMA16,upstream_gene_variant,,ENST00000508268,;TMA16,upstream_gene_variant,,ENST00000511562,;TMA16,upstream_gene_variant,,ENST00000508652,;	uc003iqq.3	c.-155C>T	186/1978	2	2			c.-155C>T						4	SNP	c.(-157--153)AACGC>AATGC	21	21				0	Broad	hypothetical protein LOC55319			164415798		0.632	ENSG00000198498	2225	g.chr4:164415798C>T										31.621398	KEEP	6	5	-1	10	3	6	5	-1	31.630977	10	3	0.478261	1	0	0	0	0	0	0	0	0	--	--		0	T				125	GBM-12-3649-TP		C	TTTAGAGAAACGCACTCGCCT	NM_018352	NP_060822	164415798	Q96EY4	CD043_HUMAN	0			1	126	+	T	T			Translation_Start_Site							
TMBIM4	51643	broad.mit.edu	GRCh37	12	66547227	66547227	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A			TCGA-06-2569-01	TCGA-06-2569-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358230.3:c.99C>T		p.X33_splice	ENST00000358230	NM_016056.2	33	gcC/gcT	0	A:0.0006	A:0	1	A:0.0014		A	A	uc001stc.2	protein_coding	YES	CCDS41805.1			99/717									ovary(1)|central_nervous_system(1)	2	c.(97-99)GCC>GCT			hmmpanther:PTHR23291:SF34,hmmpanther:PTHR23291,Pfam_domain:PF01027	transmembrane BAX inhibitor motif containing 4		A:0	A:0.0017	ENSP00000350965	A:0.002	7-Feb	0.00218	0.00021	0.000263		0.00547	0.00319	0.00788	0.000307	rs184358735,COSM3398996	7-Feb	common_variant		ENST00000358230	Transcript		A:0.0006		integral to membrane	protein binding	ENSG00000155957	g.chr12:66547227G>A	24257			LOW								--	--	1																																		LLPH_uc010ssx.1_RNA|TMBIM4_uc001std.2_Intron|TMBIM4_uc009zqr.2_Silent_p.T80T|TMBIM4_uc001ste.2_RNA|TMBIM4_uc001stf.2_Silent_p.A33A|TMBIM4_uc009zqs.2_Silent_p.A33A	0,1	1			p.A33A	NM_016056	NP_057140	A:0		0,1	LFG4_HUMAN	TMBIM4	HGNC	Q9HC24	TMBI4_HUMAN		GBM - Glioblastoma multiforme(28;0.0745)	G3V1R8_HUMAN		2	175	-			UPI00001FC6E2	33					SNV	TMBIM4,splice_region_variant,p.=,ENST00000358230,NM_016056.2;TMBIM4,splice_region_variant,,ENST00000544599,;TMBIM4,splice_region_variant,p.=,ENST00000286424,NM_001282606.1;TMBIM4,splice_region_variant,p.=,ENST00000556010,;TMBIM4,splice_region_variant,p.=,ENST00000398033,;TMBIM4,intron_variant,,ENST00000542724,;TMBIM4,splice_region_variant,,ENST00000545407,;TMBIM4,splice_region_variant,p.=,ENST00000539652,;TMBIM4,splice_region_variant,,ENST00000534930,;TMBIM4,intron_variant,,ENST00000545504,;	uc001stc.2	c.99C>T	220/2952	1	1			c.99C>T						12	SNP	c.(97-99)GCC>GCT	64	64			ovary(1)|central_nervous_system(1)	2	Broad	transmembrane BAX inhibitor motif containing 4			66547227		0.289	ENSG00000155957	15737	g.chr12:66547227G>A		integral to membrane	protein binding							301.327615	KEEP	35	55	-1	26	33	35	55	-1	302.551363	26	33	0.6	1	0	0	0	0	0	0	1	0	--	--		0	A			LLPH_uc010ssx.1_RNA|TMBIM4_uc001std.2_Intron|TMBIM4_uc009zqr.2_Silent_p.T80T|TMBIM4_uc001ste.2_RNA|TMBIM4_uc001stf.2_Silent_p.A33A|TMBIM4_uc009zqs.2_Silent_p.A33A	90	GBM-06-2569-TP	p.A33A	G	TTCTCAGAAAGGCTAAAAGAG	NM_016056	NP_057140	66547227	Q9HC24	TMBI4_HUMAN	0		GBM - Glioblastoma multiforme(28;0.0745)	2	175	-	A	A			Silent	33						
TMBIM4	0	broad.mit.edu	GRCh37	12	66531936	66531937	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-06-6701-01	TCGA-06-6701-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358230.3:c.520dupT	p.Tyr174LeufsTer2	p.Y174Lfs*2	ENST00000358230	NM_016056.2	174	tat/tTat	0			1			A	Y/LX	uc001stc.2	protein_coding	YES	CCDS41805.1			520-521/717									ovary(1)|central_nervous_system(1)	2	c.(520-522)TATfs			Transmembrane_helices:TMhelix,hmmpanther:PTHR23291:SF34,hmmpanther:PTHR23291,Pfam_domain:PF01027	transmembrane BAX inhibitor motif containing 4				ENSP00000350965		7-Jul									rs762169222	7-Jul	.		ENST00000358230	Transcript				integral to membrane	protein binding	ENSG00000155957	g.chr12:66531936_66531937insA	24257			HIGH								--	--	1																																		LLPH_uc010ssx.1_Intron|TMBIM4_uc001std.2_Frame_Shift_Ins_p.Y143fs|TMBIM4_uc009zqr.2_Frame_Shift_Ins_p.Y221fs|TMBIM4_uc001ste.2_RNA|TMBIM4_uc001stf.2_Frame_Shift_Ins_p.L162fs|TMBIM4_uc009zqs.2_Frame_Shift_Ins_p.F158fs		1			p.Y174fs	NM_016056	NP_057140				LFG4_HUMAN	TMBIM4	HGNC	Q9HC24	TMBI4_HUMAN		GBM - Glioblastoma multiforme(28;0.0745)	G3V1R8_HUMAN		7	596_597	-			UPI00001FC6E2	174					insertion	TMBIM4,frameshift_variant,p.Tyr174LeufsTer2,ENST00000358230,NM_016056.2;TMBIM4,frameshift_variant,p.Tyr221LeufsTer2,ENST00000286424,NM_001282606.1;TMBIM4,frameshift_variant,p.Tyr143LeufsTer2,ENST00000542724,;TMBIM4,frameshift_variant,p.Ile159TyrfsTer66,ENST00000398033,;TMBIM4,5_prime_UTR_variant,,ENST00000544599,;TMBIM4,intron_variant,,ENST00000556010,;RP11-745O10.2,downstream_gene_variant,,ENST00000510317,;TMBIM4,3_prime_UTR_variant,,ENST00000545407,;TMBIM4,3_prime_UTR_variant,,ENST00000545504,;TMBIM4,non_coding_transcript_exon_variant,,ENST00000538217,;TMBIM4,intron_variant,,ENST00000539652,;TMBIM4,downstream_gene_variant,,ENST00000534930,;	uc001stc.2	c.520_521insT	641-642/2952	5	5			c.520_521insT						12	INS	c.(520-522)TATfs	12	12			ovary(1)|central_nervous_system(1)	2	Broad	transmembrane BAX inhibitor motif containing 4			66531937		0.351	ENSG00000155957	15737	g.chr12:66531936_66531937insA		integral to membrane	protein binding																				0.13	1	0	0	1	1	0	0	0	0	--	--		0	A			LLPH_uc010ssx.1_Intron|TMBIM4_uc001std.2_Frame_Shift_Ins_p.Y143fs|TMBIM4_uc009zqr.2_Frame_Shift_Ins_p.Y221fs|TMBIM4_uc001ste.2_RNA|TMBIM4_uc001stf.2_Frame_Shift_Ins_p.L162fs|TMBIM4_uc009zqs.2_Frame_Shift_Ins_p.F158fs	115	GBM-06-6701-TP	p.Y174fs	-	TATCTCACTATAAAAAAAAAAC	NM_016056	NP_057140	66531936	Q9HC24	TMBI4_HUMAN	0		GBM - Glioblastoma multiforme(28;0.0745)	7	596_597	-	A	A			Frame_Shift_Ins	174						
TMC1	117531	broad.mit.edu	GRCh37	9	75387401	75387401	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs111839361		TCGA-06-0875-01	TCGA-06-0875-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297784.5:c.814A>T	p.Arg272Trp	p.R272W	ENST00000297784	NM_138691.2	272	Agg/Tgg	0			1			T	R/W	uc004aiz.1	protein_coding	YES	CCDS6643.1			814/2283									ovary(1)	1	c.(814-816)AGG>TGG			hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF18,Transmembrane_helices:TMhelix	transmembrane channel-like 1				ENSP00000297784		13/24									COSM2152032	13/24	.		ENST00000297784	Transcript	1		sensory perception of sound	integral to membrane		ENSG00000165091	g.chr9:75387401A>T	16513			MODERATE		3.035	medium	getma.org/?cm=msa&ty=f&p=TMC1_HUMAN&rb=201&re=400&var=R272W	NA	getma.org/?cm=var&var=hg19,9,75387401,A,T&fts=all	R272W	--	--	1																																		TMC1_uc010moz.1_Missense_Mutation_p.R230W|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Missense_Mutation_p.R126W|TMC1_uc010mpa.1_Missense_Mutation_p.R126W	1	1		probably_damaging(0.997)	p.R272W	NM_138691	NP_619636		deleterious(0)	1	TMC1_HUMAN	TMC1	HGNC	Q8TDI8	TMC1_HUMAN					13	1354	+			UPI0000161FA9	272			Extracellular (Potential).		SNV	TMC1,missense_variant,p.Arg272Trp,ENST00000297784,NM_138691.2;TMC1,missense_variant,p.Arg272Trp,ENST00000340019,;TMC1,missense_variant,p.Arg272Trp,ENST00000396237,;	uc004aiz.1	c.814A>T	1354/3201	1	1			c.814A>T						9	SNP	c.(814-816)AGG>TGG	8	8			ovary(1)	1	Broad	transmembrane channel-like 1			75387401		0.398	ENSG00000165091	15739	g.chr9:75387401A>T	sensory perception of sound	integral to membrane		Pancreas(75;173 1345 14232 34245 43413)			Pancreas(75;173 1345 14232 34245 43413)			572.224996	KEEP	94	76	-1	38	26	94	76	-1	582.436733	38	26	0.724444	1	0	0	0	0	1	0	0	0	--	--		0	T			TMC1_uc010moz.1_Missense_Mutation_p.R230W|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Missense_Mutation_p.R126W|TMC1_uc010mpa.1_Missense_Mutation_p.R126W	71	GBM-06-0875-TP	p.R272W	A	GATGAATTTCAGGTTGCCGCT	NM_138691	NP_619636	75387401	Q8TDI8	TMC1_HUMAN	0			13	1354	+	T	T			Missense_Mutation	272			Extracellular (Potential).			
TMC1	0	broad.mit.edu	GRCh37	9	75406910	75406910	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297784.5:c.1333C>T	p.Arg445Cys	p.R445C	ENST00000297784	NM_138691.2	445	Cgc/Tgc	0	T:0		1			T	R/C	uc004aiz.1	protein_coding	YES	CCDS6643.1			1333/2283						likely_pathogenic			ovary(1)	1	c.(1333-1335)CGC>TGC			hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF18,Transmembrane_helices:TMhelix	transmembrane channel-like 1			T:0.0001	ENSP00000297784		16/24	8.24E-05			0.000347		0.000105			rs372710475,COSM2154745	16/24	.		ENST00000297784	Transcript	1		sensory perception of sound	integral to membrane		ENSG00000165091	g.chr9:75406910C>T	16513			MODERATE		2.71	medium	getma.org/?cm=msa&ty=f&p=TMC1_HUMAN&rb=401&re=514&var=R445C	NA	getma.org/?cm=var&var=hg19,9,75406910,C,T&fts=all	R445C	--	--	1																																		TMC1_uc010moz.1_Missense_Mutation_p.R403C|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Missense_Mutation_p.R299C|TMC1_uc010mpa.1_Missense_Mutation_p.R299C	1,1	1		possibly_damaging(0.88)	p.R445C	NM_138691	NP_619636		deleterious(0)	0,1	TMC1_HUMAN	TMC1	HGNC	Q8TDI8	TMC1_HUMAN					16	1873	+			UPI0000161FA9	445			Helical; (Potential).		SNV	TMC1,missense_variant,p.Arg445Cys,ENST00000297784,NM_138691.2;TMC1,missense_variant,p.Arg445Cys,ENST00000340019,;TMC1,missense_variant,p.Arg445Cys,ENST00000396237,;TMC1,upstream_gene_variant,,ENST00000486417,;	uc004aiz.1	c.1333C>T	1873/3201	2	2			c.1333C>T						9	SNP	c.(1333-1335)CGC>TGC	46	46			ovary(1)	1	Broad	transmembrane channel-like 1			75406910		0.393	ENSG00000165091	15739	g.chr9:75406910C>T	sensory perception of sound	integral to membrane		Pancreas(75;173 1345 14232 34245 43413)			Pancreas(75;173 1345 14232 34245 43413)			340.27872	KEEP	78	46	-1	148	94	78	46	-1	347.583871	148	94	0.345714	1	0	0	0	0	1	0	0	0	--	--		0	T			TMC1_uc010moz.1_Missense_Mutation_p.R403C|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Missense_Mutation_p.R299C|TMC1_uc010mpa.1_Missense_Mutation_p.R299C	138	GBM-14-0813-TP	p.R445C	C	GCTACTGGGACGCATTTTTGC	NM_138691	NP_619636	75406910	Q8TDI8	TMC1_HUMAN	0			16	1873	+	T	T			Missense_Mutation	445			Helical; (Potential).			
TMC1	0	broad.mit.edu	GRCh37	9	75441788	75441789	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-27-1835-01	TCGA-27-1835-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297784.5:c.2012dupA	p.Asn671LysfsTer2	p.N671Kfs*2	ENST00000297784	NM_138691.2	669	-/A	0			1			A	-/X	uc004aiz.1	protein_coding	YES	CCDS6643.1			2007-2008/2283									ovary(1)	1	c.(2005-2010)GGCAAAfs			hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF18	transmembrane channel-like 1				ENSP00000297784		21/24										21/24	.		ENST00000297784	Transcript	1		sensory perception of sound	integral to membrane		ENSG00000165091	g.chr9:75441788_75441789insA	16513	5		HIGH								--	--	1																																		TMC1_uc010moz.1_Frame_Shift_Ins_p.G627fs|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Frame_Shift_Ins_p.G523fs|TMC1_uc010mpa.1_Frame_Shift_Ins_p.G523fs		1			p.G669fs	NM_138691	NP_619636				TMC1_HUMAN	TMC1	HGNC	Q8TDI8	TMC1_HUMAN					21	2547_2548	+			UPI0000161FA9	669_670			Extracellular (Potential).		insertion	TMC1,frameshift_variant,p.Asn671LysfsTer2,ENST00000297784,NM_138691.2;TMC1,frameshift_variant,p.Asn671LysfsTer2,ENST00000340019,;TMC1,frameshift_variant,p.Asn671LysfsTer2,ENST00000396237,;TMC1,non_coding_transcript_exon_variant,,ENST00000486417,;TMC1,non_coding_transcript_exon_variant,,ENST00000469455,;	uc004aiz.1	c.2007_2008insA	2547-2548/3201	5	5			c.2007_2008insA						9	INS	c.(2005-2010)GGCAAAfs	1	1			ovary(1)	1	Broad	transmembrane channel-like 1			75441789		0.411	ENSG00000165091	15739	g.chr9:75441788_75441789insA	sensory perception of sound	integral to membrane		Pancreas(75;173 1345 14232 34245 43413)			Pancreas(75;173 1345 14232 34245 43413)																0.31	1	0	0	1	1	0	0	0	0	--	--		0	A			TMC1_uc010moz.1_Frame_Shift_Ins_p.G627fs|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Frame_Shift_Ins_p.G523fs|TMC1_uc010mpa.1_Frame_Shift_Ins_p.G523fs	194	GBM-27-1835-TP	p.G669fs	-	CCCCCAGTGGCAAAAATAGAAT	NM_138691	NP_619636	75441788	Q8TDI8	TMC1_HUMAN	0			21	2547_2548	+	A	A			Frame_Shift_Ins	669_670			Extracellular (Potential).			
TMC1	0	broad.mit.edu	GRCh37	9	75445373	75445373	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6192-01	TCGA-76-6192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297784.5:c.2136C>T	p.Ala712=	p.A712=	ENST00000297784	NM_138691.2	712	gcC/gcT	0			1			T	A	uc004aiz.1	protein_coding	YES	CCDS6643.1			2136/2283									ovary(1)	1	c.(2134-2136)GCC>GCT			hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF18,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	transmembrane channel-like 1				ENSP00000297784		22/24									COSM3413721	22/24	.		ENST00000297784	Transcript	1		sensory perception of sound	integral to membrane		ENSG00000165091	g.chr9:75445373C>T	16513			LOW								--	--	1																																		TMC1_uc010moz.1_Silent_p.A670A|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Silent_p.A566A|TMC1_uc010mpa.1_Silent_p.A566A	1	1			p.A712A	NM_138691	NP_619636			1	TMC1_HUMAN	TMC1	HGNC	Q8TDI8	TMC1_HUMAN					22	2676	+			UPI0000161FA9	712			Helical; (Potential).		SNV	TMC1,synonymous_variant,p.=,ENST00000297784,NM_138691.2;TMC1,synonymous_variant,p.=,ENST00000340019,;TMC1,synonymous_variant,p.=,ENST00000396237,;TMC1,non_coding_transcript_exon_variant,,ENST00000486417,;TMC1,non_coding_transcript_exon_variant,,ENST00000469455,;	uc004aiz.1	c.2136C>T	2676/3201	2	2			c.2136C>T						9	SNP	c.(2134-2136)GCC>GCT	17	17			ovary(1)	1	Broad	transmembrane channel-like 1			75445373		0.284	ENSG00000165091	15739	g.chr9:75445373C>T	sensory perception of sound	integral to membrane		Pancreas(75;173 1345 14232 34245 43413)			Pancreas(75;173 1345 14232 34245 43413)			12.890369	KEEP	0	7	-1	19	27	0	7	-1	19.147661	19	27	0.14	1	0	0	0	0	0	0	1	0	--	--		0	T			TMC1_uc010moz.1_Silent_p.A670A|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Silent_p.A566A|TMC1_uc010mpa.1_Silent_p.A566A	275	GBM-76-6192-TP	p.A712A	C	TTAGTTTGGCCATCTATTATC	NM_138691	NP_619636	75445373	Q8TDI8	TMC1_HUMAN	0			22	2676	+	T	T			Silent	712			Helical; (Potential).			
TMC1	117531		GRCh37	9	75435855	75435855	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000297784.5:c.1861G>A	p.Val621Ile	p.V621I	ENST00000297784	NM_138691.2	621	Gtt/Att	0																																																																																																																																																																																																																																												
TMC2	117532		GRCh37	20	2616589	2616589	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000358864.1:c.2324T>A	p.Leu775Gln	p.L775Q	ENST00000358864	NM_080751.2	775	cTg/cAg	0																																																																																																																																																																																																																																												
TMC3	0	broad.mit.edu	GRCh37	15	81628948	81628948	+	splice_donor_variant	Splice_Site	SNP	A	A	G			TCGA-27-2527-01	TCGA-27-2527-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359440.5:c.2203+2T>C		p.X735_splice	ENST00000359440	NM_001080532.1			0			1			G		uc002bgo.1	protein_coding	YES	CCDS45324.1			2203/3303									ovary(1)|liver(1)	2	c.e20+1				transmembrane channel-like 3				ENSP00000352413											COSM3401958		.		ENST00000359440	Transcript				integral to membrane		ENSG00000188869	g.chr15:81628948A>G	22995			HIGH	20/21							--	--	1																																		TMC3_uc010blr.1_Splice_Site	1	1			p.A735_splice	NM_001080532	NP_001074001			1	TMC3_HUMAN	TMC3	HGNC	Q7Z5M5	TMC3_HUMAN					20	2203	-			UPI00006C154A						SNV	TMC3,splice_donor_variant,,ENST00000558726,;TMC3,splice_donor_variant,,ENST00000359440,NM_001080532.1;RP11-761I4.3,intron_variant,,ENST00000559781,;RP11-761I4.3,intron_variant,,ENST00000560851,;RP11-761I4.3,intron_variant,,ENST00000560973,;TMC3,downstream_gene_variant,,ENST00000559982,;	uc002bgo.1	c.2203_splice	-/4641	5	4			c.2203_splice						15	SNP	c.e20+1	31	31			ovary(1)|liver(1)	2	Broad	transmembrane channel-like 3			81628948		0.214	ENSG00000188869	15741	g.chr15:81628948A>G		integral to membrane								89.320131	KEEP	22	19	-1	117	129	22	19	-1	119.967988	117	129	0.145669	1	0	0	0	0	0	0	0	1	--	--		0	G			TMC3_uc010blr.1_Splice_Site	204	GBM-27-2527-TP	p.A735_splice	A	GGAAATACTTACCTTCTACCA	NM_001080532	NP_001074001	81628948	Q7Z5M5	TMC3_HUMAN	0			20	2203	-	G	G			Splice_Site							
TMC3	0	broad.mit.edu	GRCh37	15	81625404	81625404	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-74-6573-01	TCGA-74-6573-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359440.5:c.2659T>G	p.Tyr887Asp	p.Y887D	ENST00000359440	NM_001080532.1	887	Tac/Gac	0			1			C	Y/D	uc002bgo.1	protein_coding	YES	CCDS45324.1			2659/3303									ovary(1)|liver(1)	2	c.(2659-2661)TAC>GAC			hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF35	transmembrane channel-like 3				ENSP00000352413		22/22									COSM3401956	22/22	.		ENST00000359440	Transcript				integral to membrane		ENSG00000188869	g.chr15:81625404A>C	22995			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=TMC3_HUMAN&rb=815&re=1014&var=Y887D	NA	getma.org/?cm=var&var=hg19,15,81625404,A,C&fts=all	Y887D	--	--	1																																		TMC3_uc010blr.1_RNA	1	1		possibly_damaging(0.707)	p.Y887D	NM_001080532	NP_001074001		deleterious_low_confidence(0.01)	1	TMC3_HUMAN	TMC3	HGNC	Q7Z5M5	TMC3_HUMAN					22	2659	-			UPI00006C154A	887			Cytoplasmic (Potential).		SNV	TMC3,missense_variant,p.Tyr888Asp,ENST00000558726,;TMC3,missense_variant,p.Tyr887Asp,ENST00000359440,NM_001080532.1;RP11-761I4.3,intron_variant,,ENST00000559781,;RP11-761I4.3,intron_variant,,ENST00000560851,;RP11-761I4.3,intron_variant,,ENST00000560973,;TMC3,downstream_gene_variant,,ENST00000559982,;	uc002bgo.1	c.2659T>G	2795/4641	3	3			c.2659T>G						15	SNP	c.(2659-2661)TAC>GAC	15	15			ovary(1)|liver(1)	2	Broad	transmembrane channel-like 3			81625404		0.473	ENSG00000188869	15741	g.chr15:81625404A>C		integral to membrane								193.094661	KEEP	37	24	-1	48	33	37	24	-1	193.692096	48	33	0.427481	1	0	0	0	0	1	0	0	0	--	--		0	C			TMC3_uc010blr.1_RNA	260	GBM-74-6573-TP	p.Y887D	A	ATGACATAGTATCTGGGGGCG	NM_001080532	NP_001074001	81625404	Q7Z5M5	TMC3_HUMAN	0			22	2659	-	C	C			Missense_Mutation	887			Cytoplasmic (Potential).			
TMC3	0	broad.mit.edu	GRCh37	15	81627093	81627093	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4926-01	TCGA-76-4926-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359440.5:c.2427C>T	p.Val809=	p.V809=	ENST00000359440	NM_001080532.1	809	gtC/gtT	0			1			A	V	uc002bgo.1	protein_coding	YES	CCDS45324.1			2427/3303									ovary(1)|liver(1)	2	c.(2425-2427)GTC>GTT			hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF35	transmembrane channel-like 3				ENSP00000352413		21/22									COSM3401957	21/22	.		ENST00000359440	Transcript				integral to membrane		ENSG00000188869	g.chr15:81627093G>A	22995			LOW								--	--	1																																		TMC3_uc010blr.1_RNA	1	1			p.V809V	NM_001080532	NP_001074001			1	TMC3_HUMAN	TMC3	HGNC	Q7Z5M5	TMC3_HUMAN					21	2427	-			UPI00006C154A	809			Cytoplasmic (Potential).		SNV	TMC3,synonymous_variant,p.=,ENST00000558726,;TMC3,synonymous_variant,p.=,ENST00000359440,NM_001080532.1;RP11-761I4.3,intron_variant,,ENST00000559781,;RP11-761I4.3,intron_variant,,ENST00000560851,;RP11-761I4.3,intron_variant,,ENST00000560973,;TMC3,downstream_gene_variant,,ENST00000559982,;	uc002bgo.1	c.2427C>T	2563/4641	2	2			c.2427C>T						15	SNP	c.(2425-2427)GTC>GTT	18	18			ovary(1)|liver(1)	2	Broad	transmembrane channel-like 3			81627093		0.572	ENSG00000188869	15741	g.chr15:81627093G>A		integral to membrane								87.600329	KEEP	12	19	-1	26	27	12	19	-1	88.672084	26	27	0.378049	1	0	0	0	0	0	0	1	0	--	--		0	A			TMC3_uc010blr.1_RNA	266	GBM-76-4926-TP	p.V809V	G	TGGATTTGGGGACCCCAGGGA	NM_001080532	NP_001074001	81627093	Q7Z5M5	TMC3_HUMAN	0			21	2427	-	A	A			Silent	809			Cytoplasmic (Potential).			
TMC4	147798	broad.mit.edu	GRCh37	19	54667515	54667515	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0210-01	TCGA-06-0210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376591.4:c.1236G>T	p.Lys412Asn	p.K412N	ENST00000376591	NM_001145303.1	412	aaG/aaT	0			1			A	K/N	uc010erf.2	protein_coding	YES	CCDS46174.1			1236/2139									pancreas(1)	1	c.(1234-1236)AAG>AAT			Transmembrane_helices:TMhelix,hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF36	transmembrane channel-like 4 isoform 1				ENSP00000365776		15-Aug									COSM2150703	15-Aug	.		ENST00000376591	Transcript				integral to membrane		ENSG00000167608	g.chr19:54667515C>A	22998			MODERATE		1.32	low	getma.org/?cm=msa&ty=f&p=TMC4_HUMAN&rb=401&re=474&var=K412N	NA	getma.org/?cm=var&var=hg19,19,54667515,C,A&fts=all	K412N	--	--	1																																OREG0003641	type=REGULATORY REGION|Gene=AK124406|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	TMC4_uc002qdn.2_Missense_Mutation_p.A103S|TMC4_uc002qdo.2_Missense_Mutation_p.K406N	1	1		benign(0.004)	p.K412N	NM_001145303	NP_001138775		tolerated(0.21)	1	TMC4_HUMAN	TMC4	HGNC	Q7Z404	TMC4_HUMAN			C9JFU4_HUMAN		8	1368	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		UPI000040C55F	412			Helical; (Potential).		SNV	TMC4,missense_variant,p.Lys412Asn,ENST00000376591,NM_001145303.1,NM_144686.2;TMC4,missense_variant,p.Lys406Asn,ENST00000301187,;LENG1,upstream_gene_variant,,ENST00000222224,NM_024316.1;TMC4,upstream_gene_variant,,ENST00000416963,;TMC4,downstream_gene_variant,,ENST00000446291,;TMC4,intron_variant,,ENST00000479750,;TMC4,downstream_gene_variant,,ENST00000476013,;TMC4,non_coding_transcript_exon_variant,,ENST00000465790,;TMC4,upstream_gene_variant,,ENST00000468343,;TMC4,downstream_gene_variant,,ENST00000497518,;TMC4,upstream_gene_variant,,ENST00000449860,;TMC4,upstream_gene_variant,,ENST00000494594,;TMC4,upstream_gene_variant,,ENST00000495398,;	uc010erf.2	c.1236G>T	1368/2412	1	1			c.1236G>T						19	SNP	c.(1234-1236)AAG>AAT	55	55			pancreas(1)	1	Broad	transmembrane channel-like 4 isoform 1			54667515		0.562	ENSG00000167608	15742	g.chr19:54667515C>A		integral to membrane								83.00351	KEEP	26	19	0.422222222	75	104	26	19	0.422222222	100.963717	75	104	0.194175	1	0	0	0	0	1	0	0	0	--	--		0	A	OREG0003641	type=REGULATORY REGION|Gene=AK124406|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	TMC4_uc002qdn.2_Missense_Mutation_p.A103S|TMC4_uc002qdo.2_Missense_Mutation_p.K406N	47	GBM-06-0210-TP	p.K412N	C	GAGCAATGAGCTTGAACACGG	NM_001145303	NP_001138775	54667515	Q7Z404	TMC4_HUMAN	0			8	1368	-	A	A	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		Missense_Mutation	412			Helical; (Potential).			
TMC5	79838	broad.mit.edu	GRCh37	16	19451842	19451842	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01	TCGA-06-0174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396229.2:c.482C>T	p.Pro161Leu	p.P161L	ENST00000396229	NM_001105248.1	161	cCg/cTg	0			1			T	P/L	uc002dgc.3	protein_coding	YES	CCDS45431.1			482/3021									skin(1)	1	c.(481-483)CCG>CTG			hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF5	transmembrane channel-like 5 isoform a				ENSP00000379531		22-Mar	8.27E-06							6.07E-05	rs763397362,COSM3402122	22-Mar	.		ENST00000396229	Transcript				integral to membrane		ENSG00000103534	g.chr16:19451842C>T	22999			MODERATE		2.25	medium	getma.org/?cm=msa&ty=f&p=TMC5_HUMAN&rb=102&re=199&var=P161L	NA	getma.org/?cm=var&var=hg19,16,19451842,C,T&fts=all	P161L	--	--	1																																		TMC5_uc010vaq.1_Missense_Mutation_p.P161L|TMC5_uc002dgb.3_Missense_Mutation_p.P161L|TMC5_uc010var.1_Missense_Mutation_p.P161L	0,1	1		possibly_damaging(0.676)	p.P161L	NM_001105248	NP_001098718		deleterious_low_confidence(0)	0,1	TMC5_HUMAN	TMC5	HGNC	Q6UXY8	TMC5_HUMAN					3	1231	+			UPI00001FEF87	161			Extracellular (Potential).		SNV	TMC5,missense_variant,p.Pro161Leu,ENST00000396229,NM_001105248.1;TMC5,missense_variant,p.Pro161Leu,ENST00000542583,NM_001261841.1;TMC5,missense_variant,p.Pro161Leu,ENST00000381414,NM_001105249.1;TMC5,missense_variant,p.Pro161Leu,ENST00000541464,;	uc002dgc.3	c.482C>T	1231/4917	1	1			c.482C>T						16	SNP	c.(481-483)CCG>CTG	1	1			skin(1)	1	Broad	transmembrane channel-like 5 isoform a			19451842		0.478	ENSG00000103534	15743	g.chr16:19451842C>T		integral to membrane								454.140132	KEEP	70	94	-1	111	137	70	94	-1	457.364059	111	137	0.398892	1	0	0	0	0	1	0	0	0	--	--		0	T			TMC5_uc010vaq.1_Missense_Mutation_p.P161L|TMC5_uc002dgb.3_Missense_Mutation_p.P161L|TMC5_uc010var.1_Missense_Mutation_p.P161L	37	GBM-06-0174-TP	p.P161L	C	TCCTTAGAACCGGACTACCCT	NM_001105248	NP_001098718	19451842	Q6UXY8	TMC5_HUMAN	0			3	1231	+	T	T			Missense_Mutation	161			Extracellular (Potential).			
TMC5	0	broad.mit.edu	GRCh37	16	19477522	19477522	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01	TCGA-32-4208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396229.2:c.1604G>A	p.Cys535Tyr	p.C535Y	ENST00000396229	NM_001105248.1	535	tGc/tAc	0			1			A	C/Y	uc002dgc.3	protein_coding	YES	CCDS45431.1			1604/3021									skin(1)	1	c.(1603-1605)TGC>TAC			Transmembrane_helices:TMhelix,hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF5	transmembrane channel-like 5 isoform a				ENSP00000379531		22-Sep									COSM3402124,COSM3402123	22-Sep	.		ENST00000396229	Transcript				integral to membrane		ENSG00000103534	g.chr16:19477522G>A	22999			MODERATE		-0.2	neutral	getma.org/?cm=msa&ty=f&p=TMC5_HUMAN&rb=400&re=599&var=C535Y	NA	getma.org/?cm=var&var=hg19,16,19477522,G,A&fts=all	C535Y	--	--	1																																		TMC5_uc010vaq.1_Missense_Mutation_p.C535Y|TMC5_uc002dgb.3_Missense_Mutation_p.C535Y|TMC5_uc010var.1_Missense_Mutation_p.C535Y|TMC5_uc002dgd.1_Missense_Mutation_p.C289Y|TMC5_uc002dge.3_Missense_Mutation_p.C289Y|TMC5_uc002dgf.3_Missense_Mutation_p.C218Y|TMC5_uc002dgg.3_Missense_Mutation_p.C176Y	1,1	1		benign(0)	p.C535Y	NM_001105248	NP_001098718		tolerated(1)	1,1	TMC5_HUMAN	TMC5	HGNC	Q6UXY8	TMC5_HUMAN					9	2353	+			UPI00001FEF87	535			Helical; (Potential).		SNV	TMC5,missense_variant,p.Cys535Tyr,ENST00000396229,NM_001105248.1;TMC5,missense_variant,p.Cys535Tyr,ENST00000542583,NM_001261841.1;TMC5,missense_variant,p.Cys535Tyr,ENST00000381414,NM_001105249.1;TMC5,missense_variant,p.Cys289Tyr,ENST00000219821,NM_024780.4;TMC5,missense_variant,p.Cys535Tyr,ENST00000541464,;TMC5,missense_variant,p.Cys176Tyr,ENST00000561503,;TMC5,missense_variant,p.Cys218Tyr,ENST00000564959,;TMC5,non_coding_transcript_exon_variant,,ENST00000567478,;	uc002dgc.3	c.1604G>A	2353/4917	1	1			c.1604G>A						16	SNP	c.(1603-1605)TGC>TAC	50	50			skin(1)	1	Broad	transmembrane channel-like 5 isoform a			19477522		0.458	ENSG00000103534	15743	g.chr16:19477522G>A		integral to membrane								42.379647	KEEP	12	8	-1	40	24	12	8	-1	46.881434	40	24	0.246753	1	0	0	0	0	1	0	0	0	--	--		0	A			TMC5_uc010vaq.1_Missense_Mutation_p.C535Y|TMC5_uc002dgb.3_Missense_Mutation_p.C535Y|TMC5_uc010var.1_Missense_Mutation_p.C535Y|TMC5_uc002dgd.1_Missense_Mutation_p.C289Y|TMC5_uc002dge.3_Missense_Mutation_p.C289Y|TMC5_uc002dgf.3_Missense_Mutation_p.C218Y|TMC5_uc002dgg.3_Missense_Mutation_p.C176Y	243	GBM-32-4208-TP	p.C535Y	G	ATCGGAGCATGCTTGACCACC	NM_001105248	NP_001098718	19477522	Q6UXY8	TMC5_HUMAN	0			9	2353	+	A	A			Missense_Mutation	535			Helical; (Potential).			
TMC6	11322	broad.mit.edu	GRCh37	17	76120076	76120076	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0158-01	TCGA-06-0158-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000590602.1:c.1076T>G	p.Val359Gly	p.V359G	ENST00000590602		359	gTg/gGg	0			1			C	V/G	uc002juj.1	protein_coding		CCDS32748.1			1076/2418										0	c.(1075-1077)GTG>GGG			hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF4,Transmembrane_helices:TMhelix	transmembrane channel-like 6				ENSP00000313408		20-Sep									COSM2150147	20-Sep	.	Epidermodysplasia_Verruciformis_Familial_Clustering_of	ENST00000322914	Transcript	1			endoplasmic reticulum membrane|integral to membrane		ENSG00000141524	g.chr17:76120076A>C	18021			MODERATE		2.61	medium	getma.org/?cm=msa&ty=f&p=TMC6_HUMAN&rb=201&re=400&var=V359G	NA	getma.org/?cm=var&var=hg19,17,76120076,A,C&fts=all	V359G	--	--	1																																		TMC6_uc002jui.1_5'Flank|TMC6_uc010dhf.1_Missense_Mutation_p.V192G|TMC6_uc002juk.2_Missense_Mutation_p.V359G|TMC6_uc010dhg.1_Missense_Mutation_p.V359G|TMC6_uc002jul.1_Missense_Mutation_p.V359G|TMC6_uc002jum.3_Missense_Mutation_p.V150G|TMC6_uc002jun.3_Missense_Mutation_p.V359G|TMC6_uc002juo.2_Missense_Mutation_p.V132G	1			probably_damaging(0.98)	p.V359G	NM_007267	NP_009198		deleterious(0)	1	TMC6_HUMAN	TMC6	HGNC	Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		Q96I77_HUMAN,Q7L2M4_HUMAN,K7ERH0_HUMAN,K7ENM6_HUMAN,K7ENC4_HUMAN		8	1202	-			UPI000013D819	359			Helical; (Potential).		SNV	TMC6,missense_variant,p.Val359Gly,ENST00000590602,;TMC6,missense_variant,p.Val359Gly,ENST00000392467,;TMC6,missense_variant,p.Val359Gly,ENST00000322914,NM_007267.6;TMC6,missense_variant,p.Val132Gly,ENST00000589553,;TMC6,missense_variant,p.Val359Gly,ENST00000306591,;TMC6,5_prime_UTR_variant,,ENST00000322933,NM_001127198.1;TMC6,upstream_gene_variant,,ENST00000591436,;TMC6,downstream_gene_variant,,ENST00000589271,;TMC6,downstream_gene_variant,,ENST00000592063,;TMC6,downstream_gene_variant,,ENST00000592594,;TMC6,upstream_gene_variant,,ENST00000592076,;TMC6,upstream_gene_variant,,ENST00000590934,;TMC6,non_coding_transcript_exon_variant,,ENST00000593044,;TMC6,non_coding_transcript_exon_variant,,ENST00000588087,;TMC6,non_coding_transcript_exon_variant,,ENST00000585849,;TMC6,downstream_gene_variant,,ENST00000586271,;TMC6,downstream_gene_variant,,ENST00000588792,;TMC6,downstream_gene_variant,,ENST00000586126,;TMC6,downstream_gene_variant,,ENST00000591594,;TMC6,downstream_gene_variant,,ENST00000586697,;TMC6,downstream_gene_variant,,ENST00000590162,;TMC6,upstream_gene_variant,,ENST00000591756,;	uc002juj.1	c.1076T>G	1217/2786	3	3			c.1076T>G						17	SNP	c.(1075-1077)GTG>GGG	53	53				0	Broad	transmembrane channel-like 6			76120076	Epidermodysplasia_Verruciformis_Familial_Clustering_of	0.428	ENSG00000141524	15744	g.chr17:76120076A>C		endoplasmic reticulum membrane|integral to membrane								142.084203	KEEP	24	24	-1	33	35	24	24	-1	142.957664	33	35	0.4	1	0	0	0	0	1	0	0	0	--	--		0	C			TMC6_uc002jui.1_5'Flank|TMC6_uc010dhf.1_Missense_Mutation_p.V192G|TMC6_uc002juk.2_Missense_Mutation_p.V359G|TMC6_uc010dhg.1_Missense_Mutation_p.V359G|TMC6_uc002jul.1_Missense_Mutation_p.V359G|TMC6_uc002jum.3_Missense_Mutation_p.V150G|TMC6_uc002jun.3_Missense_Mutation_p.V359G|TMC6_uc002juo.2_Missense_Mutation_p.V132G	29	GBM-06-0158-TP	p.V359G	A	TTACCTGTACACCAGGGTGAT	NM_007267	NP_009198	76120076	Q7Z403	TMC6_HUMAN	0	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		8	1202	-	C	C			Missense_Mutation	359			Helical; (Potential).			
TMC7	0	broad.mit.edu	GRCh37	16	19073157	19073157	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-32-4209-01	TCGA-32-4209-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304381.5:c.2164A>T	p.Arg722Trp	p.R722W	ENST00000304381	NM_024847.3	722	Agg/Tgg	0			1			T	R/W	uc002dfq.2	protein_coding	YES	CCDS10573.1			2164/2172									skin(2)|ovary(1)	3	c.(2164-2166)AGG>TGG			hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF9	transmembrane channel-like 7 isoform a				ENSP00000304710		16/16									COSM3402120	16/16	.		ENST00000304381	Transcript				integral to membrane		ENSG00000170537	g.chr16:19073157A>T	23000			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=TMC7_HUMAN&rb=598&re=723&var=R722W	NA	getma.org/?cm=var&var=hg19,16,19073157,A,T&fts=all	R722W	--	--	1																																		TMC7_uc010vap.1_Missense_Mutation_p.R612W	1	1		probably_damaging(0.952)	p.R722W	NM_024847	NP_079123		deleterious_low_confidence(0)	1	TMC7_HUMAN	TMC7	HGNC	Q7Z402	TMC7_HUMAN			E7ERB6_HUMAN		16	2294	+			UPI00001AEDAD	722			Cytoplasmic (Potential).		SNV	TMC7,missense_variant,p.Arg612Trp,ENST00000421369,NM_001160364.1;TMC7,missense_variant,p.Arg722Trp,ENST00000304381,NM_024847.3;TMC7,downstream_gene_variant,,ENST00000569532,;RP11-626G11.1,upstream_gene_variant,,ENST00000565802,;RP11-626G11.5,downstream_gene_variant,,ENST00000576433,;RP11-626G11.5,downstream_gene_variant,,ENST00000567047,;RP11-626G11.5,downstream_gene_variant,,ENST00000568971,;RP11-626G11.5,downstream_gene_variant,,ENST00000571934,;	uc002dfq.2	c.2164A>T	2294/3640	2	2			c.2164A>T						16	SNP	c.(2164-2166)AGG>TGG	29	29			skin(2)|ovary(1)	3	Broad	transmembrane channel-like 7 isoform a			19073157		0.418	ENSG00000170537	15745	g.chr16:19073157A>T		integral to membrane								105.538942	KEEP	26	21	-1	65	57	26	21	-1	111.621012	65	57	0.28169	1	0	0	0	0	1	0	0	0	--	--		0	T			TMC7_uc010vap.1_Missense_Mutation_p.R612W	244	GBM-32-4209-TP	p.R722W	A	AAGGGACATGAGGAACTAACT	NM_024847	NP_079123	19073157	Q7Z402	TMC7_HUMAN	0			16	2294	+	T	T			Missense_Mutation	722			Cytoplasmic (Potential).			
TMC8	147138		GRCh37	17	76128876	76128876	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000318430.5:c.456G>A	p.Gln152=	p.Q152=	ENST00000318430	NM_152468.4	152	caG/caA	0																																																																																																																																																																																																																																												
TMCC3	57458	broad.mit.edu	GRCh37	12	94975965	94975965	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0141-01	TCGA-06-0141-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261226.4:c.428T>C	p.Ile143Thr	p.I143T	ENST00000261226	NM_020698.2	143	aTc/aCc	0			1			G	I/T	uc001tdj.2	protein_coding	YES	CCDS31877.1			428/1434									ovary(1)|skin(1)	2	c.(427-429)ATC>ACC			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF10267,hmmpanther:PTHR17613,hmmpanther:PTHR17613:SF8	transmembrane and coiled-coil domain family 3				ENSP00000261226		4-Feb									COSM3399187	4-Feb	.		ENST00000261226	Transcript				integral to membrane		ENSG00000057704	g.chr12:94975965A>G	29199			MODERATE		0.755	neutral	getma.org/?cm=msa&ty=f&p=TMCC3_HUMAN&rb=63&re=466&var=I143T	NA	getma.org/?cm=var&var=hg19,12,94975965,A,G&fts=all	I143T	--	--	1																																		TMCC3_uc001tdi.2_Missense_Mutation_p.I112T	1	1		benign(0.013)	p.I143T	NM_020698	NP_065749		tolerated(0.09)	1	TMCC3_HUMAN	TMCC3	HGNC	Q9ULS5	TMCC3_HUMAN			G3V207_HUMAN,F8VQF2_HUMAN		2	546	-			UPI00001FB2DD	143			Potential.		SNV	TMCC3,missense_variant,p.Ile143Thr,ENST00000261226,NM_020698.2;TMCC3,missense_variant,p.Ile112Thr,ENST00000551457,;TMCC3,missense_variant,p.Ile112Thr,ENST00000548918,;	uc001tdj.2	c.428T>C	560/5877	3	3			c.428T>C						12	SNP	c.(427-429)ATC>ACC	58	58			ovary(1)|skin(1)	2	Broad	transmembrane and coiled-coil domain family 3			94975965		0.458	ENSG00000057704	15749	g.chr12:94975965A>G		integral to membrane								-17.905006	KEEP	5	4	-1	99	61	5	4	-1	17.477628	99	61	0.044025	1	0	0	0	0	1	0	0	0	--	--		0	G			TMCC3_uc001tdi.2_Missense_Mutation_p.I112T	21	GBM-06-0141-TP	p.I143T	A	ATTCTGCTCGATCTCTCTGAG	NM_020698	NP_065749	94975965	Q9ULS5	TMCC3_HUMAN	0			2	546	-	G	G			Missense_Mutation	143			Potential.			
TMCO4	255104	broad.mit.edu	GRCh37	1	20027271	20027271	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01	TCGA-06-0185-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294543.6:c.1372G>A	p.Gly458Ser	p.G458S	ENST00000294543	NM_181719.4	458	Ggc/Agc	0		T:0	1	T:0		T	G/S	uc001bcn.2	protein_coding	YES	CCDS198.1			1372/1905										0	c.(1372-1374)GGC>AGC			Pfam_domain:PF05277,hmmpanther:PTHR17920,Superfamily_domains:SSF53474	transmembrane and coiled-coil domains 4		T:0.002		ENSP00000294543	T:0	14/16	0.000165		8.64E-05	0.00197	0.000151	1.50E-05			rs201810750,COSM2126116	14/16	common_variant		ENST00000294543	Transcript		T:0.0004		integral to membrane		ENSG00000162542	g.chr1:20027271C>T	27393			MODERATE		3.04	medium	getma.org/?cm=msa&ty=f&p=TMCO4_HUMAN&rb=185&re=521&var=G458S	NA	getma.org/?cm=var&var=hg19,1,20027271,C,T&fts=all	G458S	--	--	1																																		TMCO4_uc001bcm.2_Missense_Mutation_p.G289S|TMCO4_uc001bco.1_Missense_Mutation_p.G458S|TMCO4_uc001bcp.1_Missense_Mutation_p.G418S	0,1	1		probably_damaging(0.992)	p.G458S	NM_181719	NP_859070	T:0	deleterious(0)	0,1	TMCO4_HUMAN	TMCO4	HGNC	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	Q6ZSC6_HUMAN		14	1614	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	UPI0000197EC6	458					SNV	TMCO4,missense_variant,p.Gly458Ser,ENST00000294543,NM_181719.4;TMCO4,missense_variant,p.Gly418Ser,ENST00000375122,;TMCO4,missense_variant,p.Gly458Ser,ENST00000375127,;TMCO4,non_coding_transcript_exon_variant,,ENST00000489814,;TMCO4,non_coding_transcript_exon_variant,,ENST00000494342,;	uc001bcn.2	c.1372G>A	1614/2974	2	2			c.1372G>A						1	SNP	c.(1372-1374)GGC>AGC	20	20				0	Broad	transmembrane and coiled-coil domains 4			20027271		0.433	ENSG00000162542	15753	g.chr1:20027271C>T		integral to membrane								-30.236188	KEEP	1	3	-1	103	115	1	3	-1	6.911141	103	115	0.026667	1	0	0	0	0	1	0	0	0	--	--		0	T			TMCO4_uc001bcm.2_Missense_Mutation_p.G289S|TMCO4_uc001bco.1_Missense_Mutation_p.G458S|TMCO4_uc001bcp.1_Missense_Mutation_p.G418S	40	GBM-06-0185-TP	p.G458S	C	CTGCAGTAGCCGTTGATGATC	NM_181719	NP_859070	20027271	Q5TGY1	TMCO4_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	14	1614	-	T	T		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	Missense_Mutation	458						
TMCO5A	0	broad.mit.edu	GRCh37	15	38233922	38233922	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-1986-01	TCGA-32-1986-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319669.4:c.495C>T	p.Leu165=	p.L165=	ENST00000319669	NM_152453.2	165	ctC/ctT	0			1			T	L	uc001zjw.2	protein_coding	YES	CCDS10046.1			495/867									central_nervous_system(1)	1	c.(493-495)CTC>CTT			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF14992,hmmpanther:PTHR22422,hmmpanther:PTHR22422:SF4	transmembrane and coiled-coil domains 5A				ENSP00000327234		11-Jul									COSM3401692	11-Jul	.		ENST00000319669	Transcript				integral to membrane		ENSG00000166069	g.chr15:38233922C>T	28558			LOW								--	--	1																																		TMCO5A_uc001zjv.1_Silent_p.L165L|TMCO5A_uc010bbc.1_Silent_p.L165L	1	1			p.L165L	NM_152453	NP_689666			1	TMC5A_HUMAN	TMCO5A	HGNC	Q8N6Q1	TMC5A_HUMAN			H0YLW5_HUMAN,H0YLN2_HUMAN,H0YLD3_HUMAN,H0YL40_HUMAN		7	598	+			UPI00001BBFD2	165			Potential.		SNV	TMCO5A,synonymous_variant,p.=,ENST00000558158,;TMCO5A,synonymous_variant,p.=,ENST00000559502,;TMCO5A,synonymous_variant,p.=,ENST00000319669,NM_152453.2;TMCO5A,synonymous_variant,p.=,ENST00000540944,;TMCO5A,downstream_gene_variant,,ENST00000558625,;TMCO5A,downstream_gene_variant,,ENST00000560841,;TMCO5A,downstream_gene_variant,,ENST00000558148,;TMCO5A,synonymous_variant,p.=,ENST00000560653,;TMCO5A,non_coding_transcript_exon_variant,,ENST00000559813,;	uc001zjw.2	c.495C>T	597/1274	2	2			c.495C>T						15	SNP	c.(493-495)CTC>CTT	24	24			central_nervous_system(1)	1	Broad	transmembrane and coiled-coil domains 5A			38233922		0.363	ENSG00000166069	15754	g.chr15:38233922C>T		integral to membrane								142.808962	KEEP	26	27	-1	45	50	26	27	-1	145.483959	45	50	0.348485	1	0	0	0	0	0	0	1	0	--	--		0	T			TMCO5A_uc001zjv.1_Silent_p.L165L|TMCO5A_uc010bbc.1_Silent_p.L165L	233	GBM-32-1986-TP	p.L165L	C	ATCAAGCCCTCTACATAAAGG	NM_152453	NP_689666	38233922	Q8N6Q1	TMC5A_HUMAN	0			7	598	+	T	T			Silent	165			Potential.			
TMCO5A	0	broad.mit.edu	GRCh37	15	38239874	38239874	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-2638-01	TCGA-32-2638-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319669.4:c.645G>C	p.Lys215Asn	p.K215N	ENST00000319669	NM_152453.2	215	aaG/aaC	0		A:0.0008	1	A:0		C	K/N	uc001zjw.2	protein_coding	YES	CCDS10046.1			645/867						uncertain_significance			central_nervous_system(1)	1	c.(643-645)AAG>AAC			Pfam_domain:PF14992,hmmpanther:PTHR22422,hmmpanther:PTHR22422:SF4	transmembrane and coiled-coil domains 5A		A:0		ENSP00000327234	A:0	11-Oct									rs193920912,COSM1180146	11-Oct	.		ENST00000319669	Transcript		A:0.0002		integral to membrane		ENSG00000166069	g.chr15:38239874G>C	28558			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=TMC5A_HUMAN&rb=151&re=287&var=K215N	NA	getma.org/?cm=var&var=hg19,15,38239874,G,C&fts=all	K215N	--	--	1																																		TMCO5A_uc001zjv.1_Missense_Mutation_p.K215N	1,1	1		benign(0.022)	p.K215N	NM_152453	NP_689666	A:0	tolerated(0.06)	0,1	TMC5A_HUMAN	TMCO5A	HGNC	Q8N6Q1	TMC5A_HUMAN			H0YLW5_HUMAN,H0YLN2_HUMAN,H0YLD3_HUMAN,H0YL40_HUMAN		10	748	+			UPI00001BBFD2	215					SNV	TMCO5A,missense_variant,p.Lys215Asn,ENST00000559502,;TMCO5A,missense_variant,p.Lys215Asn,ENST00000319669,NM_152453.2;TMCO5A,missense_variant,p.Lys215Asn,ENST00000540944,;TMCO5A,downstream_gene_variant,,ENST00000558158,;TMCO5A,3_prime_UTR_variant,,ENST00000560653,;	uc001zjw.2	c.645G>C	747/1274	3	3			c.645G>C						15	SNP	c.(643-645)AAG>AAC	62	62			central_nervous_system(1)	1	Broad	transmembrane and coiled-coil domains 5A			38239874		0.318	ENSG00000166069	15754	g.chr15:38239874G>C		integral to membrane								24.160021	KEEP	10	7	-1	62	62	10	7	-1	41.016774	62	62	0.118644	1	0	0	0	0	1	0	0	0	--	--		0	C			TMCO5A_uc001zjv.1_Missense_Mutation_p.K215N	242	GBM-32-2638-TP	p.K215N	G	CTACCCAAAAGACAGCAAGAT	NM_152453	NP_689666	38239874	Q8N6Q1	TMC5A_HUMAN	0			10	748	+	C	C			Missense_Mutation	215						
TMCO5A	145942		GRCh37	15	38228595	38228595	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000319669.4:c.71C>T	p.Thr24Met	p.T24M	ENST00000319669	NM_152453.2	24	aCg/aTg	0																																																																																																																																																																																																																																												
TMED5	0	broad.mit.edu	GRCh37	1	93620253	93620256	+	frameshift_variant	Frame_Shift_Del	DEL	CAAA	CAAA	-			TCGA-19-2629-01	TCGA-19-2629-01	CAAA	CAAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370282.3:c.661_664delTTTG	p.Phe221LysfsTer13	p.F221Kfs*13	ENST00000370282	NM_016040.4	221	TTTGaa/aa	0			1			-	FE/X	uc001dpn.2	protein_coding	YES	CCDS743.1			661-664/690									ovary(1)	1	c.(661-666)TTTGAAfs			Pfam_domain:PF01105,hmmpanther:PTHR22811,hmmpanther:PTHR22811:SF41	transmembrane emp24 protein transport domain				ENSP00000359305		4-Apr										4-Apr	.		ENST00000370282	Transcript			transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane		ENSG00000117500	g.chr1:93620253_93620256delCAAA	24251			HIGH								--	--	1																																		TMED5_uc001dpo.2_3'UTR|TMED5_uc001dpp.2_RNA		1			p.F221fs	NM_016040	NP_057124				TMED5_HUMAN	TMED5	HGNC	Q9Y3A6	TMED5_HUMAN		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)			4	1108_1111	-		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)	UPI00000377FB	221_222			Cytoplasmic (Potential).		deletion	TMED5,frameshift_variant,p.Phe221LysfsTer13,ENST00000370282,NM_016040.4;TMED5,3_prime_UTR_variant,,ENST00000479918,NM_001167830.1;TMED5,downstream_gene_variant,,ENST00000370280,;TMED5,non_coding_transcript_exon_variant,,ENST00000483033,;TMED5,3_prime_UTR_variant,,ENST00000370290,;	uc001dpn.2	c.661_664delTTTG	1147-1150/6104	5	5			c.661_664delTTTG						1	DEL	c.(661-666)TTTGAAfs	32	32			ovary(1)	1	Broad	transmembrane emp24 protein transport domain			93620256		0.348	ENSG00000117500	15762	g.chr1:93620253_93620256delCAAA	transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane																					0.38	1	1	0	1	0	0	0	0	0	--	--		0	-			TMED5_uc001dpo.2_3'UTR|TMED5_uc001dpp.2_RNA	166	GBM-19-2629-TP	p.F221fs	CAAA	CTCTTATCTTCAAACAGACTCTTC	NM_016040	NP_057124	93620253	Q9Y3A6	TMED5_HUMAN	0		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)	4	1108_1111	-	-	-		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)	Frame_Shift_Del	221_222			Cytoplasmic (Potential).			
TMEFF2	0	broad.mit.edu	GRCh37	2	193049126	193049126	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-19-1790-01	TCGA-19-1790-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000272771.5:c.366A>G	p.Lys122=	p.K122=	ENST00000272771	NM_016192.2	122	aaA/aaG	0			1			C	K	uc002utc.2	protein_coding	YES	CCDS2314.1			366/1125									lung(2)|pancreas(1)|breast(1)|skin(1)	5	c.(364-366)AAA>AAG			Superfamily_domains:SSF100895,SMART_domains:SM00280,Pfam_domain:PF07648,Gene3D:3.30.60.30,hmmpanther:PTHR10574,PROSITE_profiles:PS51465	transmembrane protein with EGF-like and two				ENSP00000272771		10-Mar									COSM3407439,COSM3407440	10-Mar	.		ENST00000272771	Transcript				extracellular region|integral to membrane		ENSG00000144339	g.chr2:193049126T>C	11867			LOW								--	--	1																																		TMEFF2_uc002utd.1_Silent_p.K122K	1,1	1			p.K122K	NM_016192	NP_057276			1,1	TEFF2_HUMAN	TMEFF2	HGNC	Q9UIK5	TEFF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0835)				3	760	-			UPI0000048F19	122			Kazal-like 1.|Extracellular (Potential).		SNV	TMEFF2,synonymous_variant,p.=,ENST00000409056,;TMEFF2,synonymous_variant,p.=,ENST00000392314,;TMEFF2,synonymous_variant,p.=,ENST00000272771,NM_016192.2;	uc002utc.2	c.366A>G	1551/2604	3	3			c.366A>G						2	SNP	c.(364-366)AAA>AAG	1	1			lung(2)|pancreas(1)|breast(1)|skin(1)	5	Broad	transmembrane protein with EGF-like and two			193049126		0.473	ENSG00000144339	15769	g.chr2:193049126T>C		extracellular region|integral to membrane		Pancreas(50;1277 1381 28487 47072)			Pancreas(50;1277 1381 28487 47072)			37.774675	KEEP	7	9	-1	35	38	7	9	-1	45.941359	35	38	0.178571	1	0	0	0	0	0	0	1	0	--	--		0	C			TMEFF2_uc002utd.1_Silent_p.K122K	160	GBM-19-1790-TP	p.K122K	T	CACTCTGCTGTTTGCATGCAG	NM_016192	NP_057276	193049126	Q9UIK5	TEFF2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.0835)		3	760	-	C	C			Silent	122			Kazal-like 1.|Extracellular (Potential).			
TMEM102	284114	broad.mit.edu	GRCh37	17	7340213	7340213	+	synonymous_variant	Silent	SNP	T	T	A			TCGA-06-0158-01	TCGA-06-0158-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323206.1:c.915T>A	p.Ala305=	p.A305=	ENST00000323206	NM_178518.2	305	gcT/gcA	0			1			A	A	uc002ggx.1	protein_coding	YES	CCDS11104.1			915/1527										0	c.(913-915)GCT>GCA			hmmpanther:PTHR10656,hmmpanther:PTHR10656:SF11	transmembrane protein 102				ENSP00000315387		3-Mar									COSM2150096	3-Mar	.		ENST00000323206	Transcript			regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding	ENSG00000181284	g.chr17:7340213T>A	26722			LOW								--	--	1																																		FGF11_uc010vtw.1_Intron|TMEM102_uc002ggy.1_Silent_p.A305A|FGF11_uc010cmh.1_5'Flank|FGF11_uc010cmi.2_5'Flank|FGF11_uc002ggz.2_5'Flank	1	1			p.A305A	NM_178518	NP_848613			1	TM102_HUMAN	TMEM102	HGNC	Q8N9M5	TM102_HUMAN					3	1188	+		Prostate(122;0.173)	UPI000000DB5A	305			Cytoplasmic (Potential).		SNV	TMEM102,synonymous_variant,p.=,ENST00000323206,NM_178518.2;TMEM102,synonymous_variant,p.=,ENST00000396568,;FGF11,upstream_gene_variant,,ENST00000293829,NM_004112.2;FGF11,upstream_gene_variant,,ENST00000572907,;FGF11,upstream_gene_variant,,ENST00000575082,;FGF11,upstream_gene_variant,,ENST00000575398,;FGF11,upstream_gene_variant,,ENST00000575235,;RP11-104H15.9,intron_variant,,ENST00000570444,;RP11-104H15.8,downstream_gene_variant,,ENST00000576615,;RP11-104H15.7,intron_variant,,ENST00000575310,;RP11-104H15.10,upstream_gene_variant,,ENST00000575331,;FGF11,upstream_gene_variant,,ENST00000576328,;	uc002ggx.1	c.915T>A	1188/1973	2	2			c.915T>A						17	SNP	c.(913-915)GCT>GCA	36	36				0	Broad	transmembrane protein 102			7340213		0.721	ENSG00000181284	15772	g.chr17:7340213T>A	regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding							83.531337	KEEP	19	12	-1	31	25	19	12	-1	84.726109	31	25	0.37037	1	0	0	0	0	0	0	1	0	--	--		0	A			FGF11_uc010vtw.1_Intron|TMEM102_uc002ggy.1_Silent_p.A305A|FGF11_uc010cmh.1_5'Flank|FGF11_uc010cmi.2_5'Flank|FGF11_uc002ggz.2_5'Flank	29	GBM-06-0158-TP	p.A305A	T	TCCTCCTGGCTACCCCTGAGC	NM_178518	NP_848613	7340213	Q8N9M5	TM102_HUMAN	0			3	1188	+	A	A		Prostate(122;0.173)	Silent	305			Cytoplasmic (Potential).			
TMEM106A	113277		GRCh37	17	41365143	41365143	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000331615.3:c.83G>A	p.Ser28Asn	p.S28N	ENST00000331615	NM_145041.1	28	aGc/aAc	0																																																																																																																																																																																																																																												
TMEM109	0	broad.mit.edu	GRCh37	11	60687272	60687272	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs139328208		TCGA-27-1833-01	TCGA-27-1833-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000227525.3:c.107G>A	p.Arg36His	p.R36H	ENST00000227525	NM_024092.2	36	cGt/cAt	0	A:0	A:0	1	A:0.0014		A	R/H	uc001nqg.2	protein_coding	YES	CCDS7996.1			107/732										0	c.(106-108)CGT>CAT			hmmpanther:PTHR14550,hmmpanther:PTHR14550:SF2	transmembrane protein 109 precursor		A:0	A:0.0002	ENSP00000227525	A:0	4-Feb	8.24E-05			0.000347		4.50E-05		0.000242	rs139328208,COSM2036631	4-Feb	.		ENST00000227525	Transcript		A:0.0002		integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane		ENSG00000110108	g.chr11:60687272G>A	28771			MODERATE		-1.43	neutral	getma.org/?cm=msa&ty=f&p=TM109_HUMAN&rb=1&re=241&var=R36H	NA	getma.org/?cm=var&var=hg19,11,60687272,G,A&fts=all	R36H	--	--	1																																		TMEM109_uc001nqh.2_Missense_Mutation_p.R36H	0,1	1		benign(0)	p.R36H	NM_024092	NP_076997	A:0	tolerated(1)	0,1	TM109_HUMAN	TMEM109	HGNC	Q9BVC6	TM109_HUMAN					2	485	+			UPI0000072CF3	36					SNV	TMEM109,missense_variant,p.Arg36His,ENST00000227525,NM_024092.2;TMEM109,missense_variant,p.Arg36His,ENST00000536171,;TMEM132A,upstream_gene_variant,,ENST00000005286,NM_178031.2,NM_017870.3;TMEM132A,upstream_gene_variant,,ENST00000453848,;TMEM132A,upstream_gene_variant,,ENST00000544065,;RP11-881M11.4,intron_variant,,ENST00000543907,;TMEM132A,upstream_gene_variant,,ENST00000543732,;TMEM109,upstream_gene_variant,,ENST00000540280,;TMEM132A,upstream_gene_variant,,ENST00000540276,;TMEM132A,upstream_gene_variant,,ENST00000537065,;	uc001nqg.2	c.107G>A	510/2413	2	2			c.107G>A						11	SNP	c.(106-108)CGT>CAT	20	20				0	Broad	transmembrane protein 109 precursor			60687272		0.547	ENSG00000110108	15779	g.chr11:60687272G>A		integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane								219.924329	KEEP	40	44	-1	70	81	40	44	-1	223.307549	70	81	0.364929	1	0	0	0	0	1	0	0	0	--	--		0	A			TMEM109_uc001nqh.2_Missense_Mutation_p.R36H	192	GBM-27-1833-TP	p.R36H	G	GCCCAGTCCCGTCGAGACTTT	NM_024092	NP_076997	60687272	Q9BVC6	TM109_HUMAN	0			2	485	+	A	A			Missense_Mutation	36						
TMEM109	79073		GRCh37	11	60687316	60687316	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000227525.3:c.151G>C	p.Val51Leu	p.V51L	ENST00000227525	NM_024092.2	51	Gtt/Ctt	0																																																																																																																																																																																																																																												
TMEM115	0	broad.mit.edu	GRCh37	3	50396188	50396190	+	inframe_deletion	In_Frame_Del	DEL	AGA	AGA	-			TCGA-19-2629-01	TCGA-19-2629-01	AGA	AGA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266025.3:c.305_307delTCT	p.Phe102del	p.F102del	ENST00000266025	NM_007024.4	102	tTCTca/tca	0			1			-	FS/S	uc003dan.1	protein_coding	YES	CCDS2828.1			305-307/1056										0	c.(304-309)TTCTCA>TCA			Transmembrane_helices:TMhelix,Superfamily_domains:SSF144091,Pfam_domain:PF08551,hmmpanther:PTHR13377	PL6 protein				ENSP00000266025		2-Jan	8.24E-06							6.06E-05	rs762270049	2-Jan	.		ENST00000266025	Transcript			negative regulation of cell proliferation	Golgi apparatus|integral to membrane|nucleus		ENSG00000126062	g.chr3:50396188_50396190delAGA	30055			MODERATE								--	--	1																																				1			p.F102del	NM_007024	NP_008955				TM115_HUMAN	TMEM115	HGNC	Q12893	TM115_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)			1	750_752	-			UPI0000131B9A	102			Helical; (Potential).		deletion	TMEM115,inframe_deletion,p.Phe102del,ENST00000266025,NM_007024.4;XXcos-LUCA11.5,intron_variant,,ENST00000606589,;CACNA2D2,downstream_gene_variant,,ENST00000435965,;CACNA2D2,downstream_gene_variant,,ENST00000395083,;CACNA2D2,downstream_gene_variant,,ENST00000266039,;CACNA2D2,downstream_gene_variant,,ENST00000423994,NM_001174051.1;CACNA2D2,downstream_gene_variant,,ENST00000429770,NM_006030.2,NM_001005505.1;CACNA2D2,downstream_gene_variant,,ENST00000360963,;CACNA2D2,downstream_gene_variant,,ENST00000424201,;CYB561D2,downstream_gene_variant,,ENST00000418577,;CYB561D2,downstream_gene_variant,,ENST00000425346,;CYB561D2,downstream_gene_variant,,ENST00000232508,NM_007022.3;CYB561D2,downstream_gene_variant,,ENST00000424512,;CYB561D2,downstream_gene_variant,,ENST00000490926,;CACNA2D2,downstream_gene_variant,,ENST00000483620,;	uc003dan.1	c.305_307delTCT	852-854/2197	5	5			c.305_307delTCT						3	DEL	c.(304-309)TTCTCA>TCA	59	59				0	Broad	PL6 protein			50396190		0.601	ENSG00000126062	15783	g.chr3:50396188_50396190delAGA	negative regulation of cell proliferation	Golgi apparatus|integral to membrane|nucleus																					0.1	1	1	0	1	0	0	0	0	0	--	--		0	-				166	GBM-19-2629-TP	p.F102del	AGA	TTCACCACTGAGAAGAAGATGAG	NM_007024	NP_008955	50396188	Q12893	TM115_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	1	750_752	-	-	-			In_Frame_Del	102			Helical; (Potential).			
TMEM120B	144404		GRCh37	12	122209423	122209423	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000449592.2:c.647G>A	p.Arg216His	p.R216H	ENST00000449592	NM_001080825.2	216	cGc/cAc	0																																																																																																																																																																																																																																												
TMEM123	114908	broad.mit.edu	GRCh37	11	102272678	102272678	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-02-2470-01	TCGA-02-2470-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398136.2:c.417T>C	p.Ser139=	p.S139=	ENST00000398136	NM_052932.2	139	agT/agC	0			1			G	S	uc001pha.2	protein_coding	YES	CCDS41702.1			417/627									breast(2)	2	c.(415-417)AGT>AGC			hmmpanther:PTHR11337,hmmpanther:PTHR11337:SF10,Low_complexity_(Seg):seg	transmembrane protein 123 precursor				ENSP00000381204		5-Mar									COSM3397355	5-Mar	.		ENST00000398136	Transcript			oncosis	external side of plasma membrane|integral to membrane	receptor activity	ENSG00000152558	g.chr11:102272678A>G	30138			LOW								--	--	1																																		TMEM123_uc009yxc.2_Silent_p.S120S	1	1			p.S139S	NM_052932	NP_443164			1	PORIM_HUMAN	TMEM123	HGNC	Q8N131	PORIM_HUMAN	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)	E9PKT4_HUMAN,E9PJW0_HUMAN		3	838	-	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	UPI0000035980	139			Thr-rich.|Extracellular (Potential).		SNV	TMEM123,synonymous_variant,p.=,ENST00000398136,NM_052932.2;TMEM123,synonymous_variant,p.=,ENST00000361236,;TMEM123,synonymous_variant,p.=,ENST00000532161,;TMEM123,synonymous_variant,p.=,ENST00000528969,;TMEM123,downstream_gene_variant,,ENST00000531103,;TMEM123,downstream_gene_variant,,ENST00000526676,;TMEM123,non_coding_transcript_exon_variant,,ENST00000525577,;TMEM123,non_coding_transcript_exon_variant,,ENST00000529492,;	uc001pha.2	c.417T>C	838/3579	3	3			c.417T>C						11	SNP	c.(415-417)AGT>AGC	64	64			breast(2)	2	Broad	transmembrane protein 123 precursor			102272678		0.363	ENSG00000152558	15789	g.chr11:102272678A>G	oncosis	external side of plasma membrane|integral to membrane	receptor activity			67			67	-73.282121	KEEP	1	3	-1	211	136	1	3	-1	8.084539	211	136	0.013289	1	0	0	0	0	0	0	1	0	--	--		0	G			TMEM123_uc009yxc.2_Silent_p.S120S	5	GBM-02-2470-TP	p.S139S	A	ATGTCACTGAACTATTGTGGG	NM_052932	NP_443164	102272678	Q8N131	PORIM_HUMAN	0	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)	3	838	-	G	G	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Silent	139			Thr-rich.|Extracellular (Potential).			
TMEM126B	0	broad.mit.edu	GRCh37	11	85342819	85342819	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-2629-01	TCGA-19-2629-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358867.6:c.170T>C	p.Ile57Thr	p.I57T	ENST00000358867	NM_018480.4	57	aTa/aCa	0			1			C	I/T	uc001pao.2	protein_coding	YES	CCDS8267.2			170/693										0	c.(79-81)ATA>ACA			Pfam_domain:PF07114,hmmpanther:PTHR16296,hmmpanther:PTHR16296:SF3	transmembrane protein 126B				ENSP00000351737		5-Feb									COSM3398175,COSM3398174	5-Feb	.		ENST00000358867	Transcript				integral to membrane		ENSG00000171204	g.chr11:85342819T>C	30883			MODERATE		2.24	medium	getma.org/?cm=msa&ty=f&p=T126B_HUMAN&rb=45&re=229&var=I57T	NA	getma.org/?cm=var&var=hg19,11,85342819,T,C&fts=all	I57T	--	--	1																																		TMEM126B_uc001pan.1_Missense_Mutation_p.I27T|TMEM126B_uc001pap.2_Missense_Mutation_p.I27T|TMEM126B_uc001paq.1_Missense_Mutation_p.I27T	1,1	1		probably_damaging(0.932)	p.I27T	NM_018480	NP_060950		deleterious(0)	1,1	T126B_HUMAN	TMEM126B	HGNC	Q8IUX1	T126B_HUMAN					3	332	+		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	UPI00003D5F21	57					SNV	TMEM126B,missense_variant,p.Ile57Thr,ENST00000534341,;TMEM126B,missense_variant,p.Ile27Thr,ENST00000393375,NM_001193538.2,NM_001256546.1;TMEM126B,missense_variant,p.Ile57Thr,ENST00000358867,NM_018480.4;TMEM126B,intron_variant,,ENST00000531274,;DLG2,upstream_gene_variant,,ENST00000376104,NM_001142699.1;DLG2,upstream_gene_variant,,ENST00000472545,;DLG2,upstream_gene_variant,,ENST00000526147,;TMEM126B,3_prime_UTR_variant,,ENST00000528361,;TMEM126B,3_prime_UTR_variant,,ENST00000529197,;TMEM126B,3_prime_UTR_variant,,ENST00000531477,;TMEM126B,3_prime_UTR_variant,,ENST00000530783,;TMEM126B,3_prime_UTR_variant,,ENST00000531718,;TMEM126B,3_prime_UTR_variant,,ENST00000530901,;TMEM126B,intron_variant,,ENST00000526822,NM_001256547.1;	uc001pao.2	c.80T>C	193/989	3	3			c.80T>C						11	SNP	c.(79-81)ATA>ACA	12	12				0	Broad	transmembrane protein 126B			85342819		0.353	ENSG00000171204	15792	g.chr11:85342819T>C		integral to membrane								-5.89898	KEEP	3	2	-1	51	44	3	2	-1	13.35253	51	44	0.054348	1	0	0	0	0	1	0	0	0	--	--		0	C			TMEM126B_uc001pan.1_Missense_Mutation_p.I27T|TMEM126B_uc001pap.2_Missense_Mutation_p.I27T|TMEM126B_uc001paq.1_Missense_Mutation_p.I27T	166	GBM-19-2629-TP	p.I27T	T	ATAGAAATCATAGAAAAAAAT	NM_018480	NP_060950	85342819	Q8IUX1	T126B_HUMAN	0			3	332	+	C	C		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	Missense_Mutation	57						
TMEM131	23505		GRCh37	2	98427639	98427639	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000186436.5:c.1920del	p.Lys640AsnfsTer2	p.K640Nfs*2	ENST00000186436	NM_015348.1	640	aaA/aa	0																																																																																																																																																																																																																																												
TMEM132B	114795	broad.mit.edu	GRCh37	12	126004117	126004117	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0174-01	TCGA-06-0174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299308.3:c.1224C>T	p.Val408=	p.V408=	ENST00000299308	NM_052907.2	408	gtC/gtT	0			1			T	V	uc001uhe.1	protein_coding	YES	CCDS41859.1			1224/3237									skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	c.(1222-1224)GTC>GTT			hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF5	transmembrane protein 132B				ENSP00000299308		9-Apr									COSM3398511	9-Apr	.		ENST00000299308	Transcript				integral to membrane		ENSG00000139364	g.chr12:126004117C>T	29397			LOW								--	--	1																																			1	1			p.V408V	NM_052907	NP_443139			1	T132B_HUMAN	TMEM132B	HGNC	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)			4	1232	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		UPI00006BFF58	408			Extracellular (Potential).		SNV	TMEM132B,synonymous_variant,p.=,ENST00000299308,NM_052907.2;TMEM132B,non_coding_transcript_exon_variant,,ENST00000534945,;	uc001uhe.1	c.1224C>T	1232/10906	1	1			c.1224C>T						12	SNP	c.(1222-1224)GTC>GTT	12	12			skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	Broad	transmembrane protein 132B			126004117		0.532	ENSG00000139364	15798	g.chr12:126004117C>T		integral to membrane								250.037272	KEEP	48	38	-1	45	49	48	38	-1	250.071261	45	49	0.484472	1	0	0	0	0	0	0	1	0	--	--		0	T				37	GBM-06-0174-TP	p.V408V	C	AGCTGGTCGTCTCCGAGATCT	NM_052907	NP_443139	126004117	Q14DG7	T132B_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	4	1232	+	T	T	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Silent	408			Extracellular (Potential).			
TMEM132B	114795	broad.mit.edu	GRCh37	12	125834741	125834741	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0877-01	TCGA-06-0877-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299308.3:c.796C>G	p.Pro266Ala	p.P266A	ENST00000299308	NM_052907.2	266	Cca/Gca	0			1			G	P/A	uc001uhe.1	protein_coding	YES	CCDS41859.1			796/3237									skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	c.(796-798)CCA>GCA			hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF5	transmembrane protein 132B				ENSP00000299308		9-Feb	8.27E-06							6.06E-05	rs747981993,COSM2152175	9-Feb	.		ENST00000299308	Transcript				integral to membrane		ENSG00000139364	g.chr12:125834741C>G	29397			MODERATE		1.495	low	getma.org/?cm=msa&ty=f&p=T132B_HUMAN&rb=13&re=1076&var=P266A	NA	getma.org/?cm=var&var=hg19,12,125834741,C,G&fts=all	P266A	--	--	1																																			0,1	1		possibly_damaging(0.641)	p.P266A	NM_052907	NP_443139		tolerated(0.19)	0,1	T132B_HUMAN	TMEM132B	HGNC	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)			2	804	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		UPI00006BFF58	266			Extracellular (Potential).		SNV	TMEM132B,missense_variant,p.Pro266Ala,ENST00000299308,NM_052907.2;TMEM132B,downstream_gene_variant,,ENST00000418253,;TMEM132B,downstream_gene_variant,,ENST00000535330,;TMEM132B,non_coding_transcript_exon_variant,,ENST00000534945,;	uc001uhe.1	c.796C>G	804/10906	3	3			c.796C>G						12	SNP	c.(796-798)CCA>GCA	50	50			skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	Broad	transmembrane protein 132B			125834741		0.577	ENSG00000139364	15798	g.chr12:125834741C>G		integral to membrane								496.00307	KEEP	92	89	-1	97	110	92	89	-1	496.346444	97	110	0.467033	1	0	0	0	0	1	0	0	0	--	--		0	G				73	GBM-06-0877-TP	p.P266A	C	GGTGGTCTACCCAACCCAAGA	NM_052907	NP_443139	125834741	Q14DG7	T132B_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	2	804	+	G	G	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Missense_Mutation	266			Extracellular (Potential).			
TMEM132B	0	broad.mit.edu	GRCh37	12	126138636	126138636	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6700-01	TCGA-06-6700-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299308.3:c.2617C>T	p.Pro873Ser	p.P873S	ENST00000299308	NM_052907.2	873	Ccc/Tcc	0			1			T	P/S	uc001uhe.1	protein_coding	YES	CCDS41859.1			2617/3237									skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	c.(2617-2619)CCC>TCC			hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF5	transmembrane protein 132B				ENSP00000299308		9-Sep									COSM3398513	9-Sep	.		ENST00000299308	Transcript				integral to membrane		ENSG00000139364	g.chr12:126138636C>T	29397			MODERATE		1.965	medium	getma.org/?cm=msa&ty=f&p=T132B_HUMAN&rb=13&re=1076&var=P873S	NA	getma.org/?cm=var&var=hg19,12,126138636,C,T&fts=all	P873S	--	--	1																																		TMEM132B_uc001uhf.1_Missense_Mutation_p.P385S	1	1		probably_damaging(0.999)	p.P873S	NM_052907	NP_443139		deleterious(0)	1	T132B_HUMAN	TMEM132B	HGNC	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)			9	2625	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		UPI00006BFF58	873			Extracellular (Potential).		SNV	TMEM132B,missense_variant,p.Pro873Ser,ENST00000299308,NM_052907.2;TMEM132B,missense_variant,p.Pro385Ser,ENST00000535886,NM_001286219.1;	uc001uhe.1	c.2617C>T	2625/10906	2	2			c.2617C>T						12	SNP	c.(2617-2619)CCC>TCC	26	26			skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	Broad	transmembrane protein 132B			126138636		0.507	ENSG00000139364	15798	g.chr12:126138636C>T		integral to membrane								43.875349	KEEP	9	8	-1	16	27	9	8	-1	46.339731	16	27	0.280702	1	0	0	0	0	1	0	0	0	--	--		0	T			TMEM132B_uc001uhf.1_Missense_Mutation_p.P385S	114	GBM-06-6700-TP	p.P873S	C	TACAAGCTTCCCCACTCAAGG	NM_052907	NP_443139	126138636	Q14DG7	T132B_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2625	+	T	T	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Missense_Mutation	873			Extracellular (Potential).			
TMEM132B	0	broad.mit.edu	GRCh37	12	126138507	126138507	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-14-0871-01	TCGA-14-0871-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299308.3:c.2488G>T	p.Glu830Ter	p.E830*	ENST00000299308	NM_052907.2	830	Gaa/Taa	0			1			T	E/*	uc001uhe.1	protein_coding	YES	CCDS41859.1			2488/3237									skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	c.(2488-2490)GAA>TAA			hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF5	transmembrane protein 132B				ENSP00000299308		9-Sep									COSM3398512	9-Sep	.		ENST00000299308	Transcript				integral to membrane		ENSG00000139364	g.chr12:126138507G>T	29397			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,12,126138507,G,T&fts=all	E830*	--	--	1																																		TMEM132B_uc001uhf.1_Nonsense_Mutation_p.E342*	1	1			p.E830*	NM_052907	NP_443139			1	T132B_HUMAN	TMEM132B	HGNC	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)			9	2496	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		UPI00006BFF58	830			Extracellular (Potential).		SNV	TMEM132B,stop_gained,p.Glu830Ter,ENST00000299308,NM_052907.2;TMEM132B,stop_gained,p.Glu342Ter,ENST00000535886,NM_001286219.1;	uc001uhe.1	c.2488G>T	2496/10906	5	2			c.2488G>T						12	SNP	c.(2488-2490)GAA>TAA	32	32			skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	Broad	transmembrane protein 132B			126138507		0.488	ENSG00000139364	15798	g.chr12:126138507G>T		integral to membrane								44.346088	KEEP	9	11	0.45	44	38	9	11	0.45	51.319317	44	38	0.215054	1	0	0	0	0	0	1	0	0	--	--		0	T			TMEM132B_uc001uhf.1_Nonsense_Mutation_p.E342*	141	GBM-14-0871-TP	p.E830*	G	AGCAGTCCAGGAATGGTTCCA	NM_052907	NP_443139	126138507	Q14DG7	T132B_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2496	+	T	T	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Nonsense_Mutation	830			Extracellular (Potential).			
TMEM132B	0	broad.mit.edu	GRCh37	12	125834519	125834519	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01	TCGA-32-1970-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299308.3:c.574G>A	p.Glu192Lys	p.E192K	ENST00000299308	NM_052907.2	192	Gag/Aag	0			1			A	E/K	uc001uhe.1	protein_coding	YES	CCDS41859.1			574/3237									skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	c.(574-576)GAG>AAG			hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF5	transmembrane protein 132B				ENSP00000299308		9-Feb									COSM3398510	9-Feb	.		ENST00000299308	Transcript				integral to membrane		ENSG00000139364	g.chr12:125834519G>A	29397			MODERATE		1.24	low	getma.org/?cm=msa&ty=f&p=T132B_HUMAN&rb=13&re=1076&var=E192K	NA	getma.org/?cm=var&var=hg19,12,125834519,G,A&fts=all	E192K	--	--	1																																			1	1		benign(0.176)	p.E192K	NM_052907	NP_443139		deleterious(0.04)	1	T132B_HUMAN	TMEM132B	HGNC	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)			2	582	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		UPI00006BFF58	192			Extracellular (Potential).		SNV	TMEM132B,missense_variant,p.Glu192Lys,ENST00000299308,NM_052907.2;TMEM132B,non_coding_transcript_exon_variant,,ENST00000418253,;TMEM132B,downstream_gene_variant,,ENST00000535330,;TMEM132B,non_coding_transcript_exon_variant,,ENST00000534945,;	uc001uhe.1	c.574G>A	582/10906	1	1			c.574G>A						12	SNP	c.(574-576)GAG>AAG	59	59			skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	Broad	transmembrane protein 132B			125834519		0.632	ENSG00000139364	15798	g.chr12:125834519G>A		integral to membrane								97.388948	KEEP	14	23	-1	47	29	14	23	-1	99.97254	47	29	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	A				228	GBM-32-1970-TP	p.E192K	G	GCTGCTGCCCGAGTGGTTCAG	NM_052907	NP_443139	125834519	Q14DG7	T132B_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	2	582	+	A	A	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Missense_Mutation	192			Extracellular (Potential).			
TMEM132D	121256	broad.mit.edu	GRCh37	12	129694197	129694197	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0152-01	TCGA-06-0152-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000422113.2:c.1311C>T	p.Ile437=	p.I437=	ENST00000422113	NM_133448.2	437	atC/atT	0			1			A	I	uc009zyl.1	protein_coding	YES	CCDS9266.1			1311/3300									ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	c.(1309-1311)ATC>ATT			hmmpanther:PTHR13388	transmembrane protein 132D precursor				ENSP00000408581		9-May									COSM2149847	9-May	.		ENST00000422113	Transcript				integral to membrane		ENSG00000151952	g.chr12:129694197G>A	29411			LOW								--	--	1																																			1	1			p.I437I	NM_133448	NP_597705			1	T132D_HUMAN	TMEM132D	HGNC	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)			5	1639	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	UPI000023759C	437			Extracellular (Potential).		SNV	TMEM132D,synonymous_variant,p.=,ENST00000422113,NM_133448.2;RP11-669N7.3,non_coding_transcript_exon_variant,,ENST00000542578,;	uc009zyl.1	c.1311C>T	1638/5776	1	1			c.1311C>T						12	SNP	c.(1309-1311)ATC>ATT	52	52			ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	Broad	transmembrane protein 132D precursor			129694197		0.617	ENSG00000151952	15799	g.chr12:129694197G>A		integral to membrane								129.739598	KEEP	24	28	-1	43	37	24	28	-1	131.107519	43	37	0.384615	1	0	0	0	0	0	0	1	0	--	--		0	A				25	GBM-06-0152-TP	p.I437I	G	CTGTGTTCAGGATTTCTGCCT	NM_133448	NP_597705	129694197	Q14C87	T132D_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	5	1639	-	A	A	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	Silent	437			Extracellular (Potential).			
TMEM132D	121256	broad.mit.edu	GRCh37	12	130184923	130184923	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0173-01	TCGA-06-0173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000422113.2:c.400C>G	p.Leu134Val	p.L134V	ENST00000422113	NM_133448.2	134	Ctg/Gtg	0			1			C	L/V	uc009zyl.1	protein_coding	YES	CCDS9266.1			400/3300									ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	c.(400-402)CTG>GTG			hmmpanther:PTHR13388	transmembrane protein 132D precursor				ENSP00000408581		9-Feb									COSM2150383	9-Feb	.		ENST00000422113	Transcript				integral to membrane		ENSG00000151952	g.chr12:130184923G>C	29411			MODERATE		1.17	low	getma.org/?cm=msa&ty=f&p=T132D_HUMAN&rb=25&re=1097&var=L134V	NA	getma.org/?cm=var&var=hg19,12,130184923,G,C&fts=all	L134V	--	--	1																																			1	1		benign(0.018)	p.L134V	NM_133448	NP_597705		tolerated(0.23)	1	T132D_HUMAN	TMEM132D	HGNC	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)			2	728	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	UPI000023759C	134			Extracellular (Potential).		SNV	TMEM132D,missense_variant,p.Leu134Val,ENST00000422113,NM_133448.2;RP11-174M13.2,upstream_gene_variant,,ENST00000544036,;	uc009zyl.1	c.400C>G	727/5776	3	3			c.400C>G						12	SNP	c.(400-402)CTG>GTG	52	52			ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	Broad	transmembrane protein 132D precursor			130184923		0.537	ENSG00000151952	15799	g.chr12:130184923G>C		integral to membrane								66.125052	KEEP	10	14	-1	22	23	10	14	-1	67.279456	22	23	0.354839	1	0	0	0	0	1	0	0	0	--	--		0	C				36	GBM-06-0173-TP	p.L134V	G	TTGTCCCGCAGGATGTGGGCT	NM_133448	NP_597705	130184923	Q14C87	T132D_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	728	-	C	C	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	Missense_Mutation	134			Extracellular (Potential).			
TMEM132D	121256	broad.mit.edu	GRCh37	12	129558525	129558525	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2562-01	TCGA-06-2562-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000422113.2:c.3195C>T	p.Ile1065=	p.I1065=	ENST00000422113	NM_133448.2	1065	atC/atT	0			1			A	I	uc009zyl.1	protein_coding	YES	CCDS9266.1			3195/3300									ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	c.(3193-3195)ATC>ATT			hmmpanther:PTHR13388	transmembrane protein 132D precursor				ENSP00000408581		9-Sep	6.59E-05					9.01E-05		0.000124	rs776600445,COSM936925,COSM3398517	9-Sep	.		ENST00000422113	Transcript				integral to membrane		ENSG00000151952	g.chr12:129558525G>A	29411			LOW								--	--	1																																		TMEM132D_uc001uia.2_Silent_p.I603I	0,1,1	1			p.I1065I	NM_133448	NP_597705			0,1,1	T132D_HUMAN	TMEM132D	HGNC	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)			9	3523	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	UPI000023759C	1065			Cytoplasmic (Potential).		SNV	TMEM132D,synonymous_variant,p.=,ENST00000422113,NM_133448.2;TMEM132D,synonymous_variant,p.=,ENST00000389441,;	uc009zyl.1	c.3195C>T	3522/5776	2	2			c.3195C>T						12	SNP	c.(3193-3195)ATC>ATT	46	46			ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	Broad	transmembrane protein 132D precursor			129558525		0.517	ENSG00000151952	15799	g.chr12:129558525G>A		integral to membrane								323.2836	KEEP	51	66	-1	105	119	51	66	-1	329.416408	105	119	0.350482	1	0	0	0	0	0	0	1	0	--	--		0	A			TMEM132D_uc001uia.2_Silent_p.I603I	85	GBM-06-2562-TP	p.I1065I	G	TACTCATCACGATGGAGTTCC	NM_133448	NP_597705	129558525	Q14C87	T132D_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	3523	-	A	A	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	Silent	1065			Cytoplasmic (Potential).			
TMEM132D	121256	broad.mit.edu	GRCh37	12	130184469	130184469	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01	TCGA-06-2563-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000422113.2:c.854G>A	p.Arg285His	p.R285H	ENST00000422113	NM_133448.2	285	cGt/cAt	0			1			T	R/H	uc009zyl.1	protein_coding	YES	CCDS9266.1			854/3300									ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	c.(853-855)CGT>CAT			hmmpanther:PTHR13388	transmembrane protein 132D precursor				ENSP00000408581		9-Feb	1.65E-05	0.000193							rs751041490,COSM1360056	9-Feb	.		ENST00000422113	Transcript				integral to membrane		ENSG00000151952	g.chr12:130184469C>T	29411			MODERATE		2.3	medium	getma.org/?cm=msa&ty=f&p=T132D_HUMAN&rb=25&re=1097&var=R285H	NA	getma.org/?cm=var&var=hg19,12,130184469,C,T&fts=all	R285H	--	--	1																																			0,1	1		benign(0.073)	p.R285H	NM_133448	NP_597705		deleterious(0.05)	0,1	T132D_HUMAN	TMEM132D	HGNC	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)			2	1182	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	UPI000023759C	285			Extracellular (Potential).		SNV	TMEM132D,missense_variant,p.Arg285His,ENST00000422113,NM_133448.2;RP11-174M13.2,upstream_gene_variant,,ENST00000544036,;	uc009zyl.1	c.854G>A	1181/5776	2	2			c.854G>A						12	SNP	c.(853-855)CGT>CAT	22	22			ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	Broad	transmembrane protein 132D precursor			130184469		0.522	ENSG00000151952	15799	g.chr12:130184469C>T		integral to membrane								90.410898	KEEP	21	13	-1	33	15	21	13	-1	90.713943	33	15	0.430556	1	0	0	0	0	1	0	0	0	--	--		0	T				86	GBM-06-2563-TP	p.R285H	C	GTTGTCCAGACGCAGTTCTCT	NM_133448	NP_597705	130184469	Q14C87	T132D_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	1182	-	T	T	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	Missense_Mutation	285			Extracellular (Potential).			
TMEM132D	121256	broad.mit.edu	GRCh37	12	130015732	130015732	+	synonymous_variant	Silent	SNP	G	G	A	rs147002439		TCGA-06-5415-01	TCGA-06-5415-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000422113.2:c.987C>T	p.Gly329=	p.G329=	ENST00000422113	NM_133448.2	329	ggC/ggT	0	A:0	A:0	1	A:0		A	G	uc009zyl.1	protein_coding	YES	CCDS9266.1			987/3300									ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	c.(985-987)GGC>GGT			hmmpanther:PTHR13388	transmembrane protein 132D precursor		A:0.001	A:0.0001	ENSP00000408581	A:0	9-Mar	6.59E-05			0.000231		1.51E-05		0.000322	rs147002439,COSM2153227	9-Mar	.		ENST00000422113	Transcript		A:0.0004		integral to membrane		ENSG00000151952	g.chr12:130015732G>A	29411			LOW								--	--	1																																			0,1	1			p.G329G	NM_133448	NP_597705	A:0.001		0,1	T132D_HUMAN	TMEM132D	HGNC	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)			3	1315	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	UPI000023759C	329			Extracellular (Potential).		SNV	TMEM132D,synonymous_variant,p.=,ENST00000422113,NM_133448.2;	uc009zyl.1	c.987C>T	1314/5776	1	1			c.987C>T						12	SNP	c.(985-987)GGC>GGT	63	63			ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	Broad	transmembrane protein 132D precursor			130015732		0.557	ENSG00000151952	15799	g.chr12:130015732G>A		integral to membrane								171.046934	KEEP	34	31	-1	10	18	34	31	-1	173.166451	10	18	0.670732	1	0	0	0	0	0	0	1	0	--	--		0	A				98	GBM-06-5415-TP	p.G329G	G	TGATGTTCACGCCTTTCTTCA	NM_133448	NP_597705	130015732	Q14C87	T132D_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	3	1315	-	A	A	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	Silent	329			Extracellular (Potential).			
TMEM132D	0	broad.mit.edu	GRCh37	12	130185158	130185158	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-1395-01	TCGA-14-1395-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000422113.2:c.165C>T	p.Asn55=	p.N55=	ENST00000422113	NM_133448.2	55	aaC/aaT	0			1			A	N	uc009zyl.1	protein_coding	YES	CCDS9266.1			165/3300								p.N55T(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	c.(163-165)AAC>AAT			hmmpanther:PTHR13388	transmembrane protein 132D precursor				ENSP00000408581		9-Feb	4.12E-05							0.000303	rs763982639,COSM1159564	9-Feb	.		ENST00000422113	Transcript				integral to membrane		ENSG00000151952	g.chr12:130185158G>A	29411			LOW								--	--	1																																			0,1	1			p.N55N	NM_133448	NP_597705			0,1	T132D_HUMAN	TMEM132D	HGNC	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)			2	493	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	UPI000023759C	55			Extracellular (Potential).		SNV	TMEM132D,synonymous_variant,p.=,ENST00000422113,NM_133448.2;RP11-174M13.2,upstream_gene_variant,,ENST00000544036,;	uc009zyl.1	c.165C>T	492/5776	2	2			c.165C>T						12	SNP	c.(163-165)AAC>AAT	25	25		p.N55T(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	Broad	transmembrane protein 132D precursor			130185158		0.547	ENSG00000151952	15799	g.chr12:130185158G>A		integral to membrane								60.067347	KEEP	13	10	-1	10	18	13	10	-1	60.183309	10	18	0.446809	1	0	0	0	0	0	0	1	0	--	--		0	A				144	GBM-14-1395-TP	p.N55N	G	AGACGTCCGCGTTGTTGATGT	NM_133448	NP_597705	130185158	Q14C87	T132D_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	493	-	A	A	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	Silent	55			Extracellular (Potential).			
TMEM132D	0	broad.mit.edu	GRCh37	12	129559351	129559351	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01	TCGA-19-5952-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000422113.2:c.2369C>T	p.Thr790Met	p.T790M	ENST00000422113	NM_133448.2	790	aCg/aTg	0		A:0	1	A:0		A	T/M	uc009zyl.1	protein_coding	YES	CCDS9266.1			2369/3300									ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	c.(2368-2370)ACG>ATG			hmmpanther:PTHR13388	transmembrane protein 132D precursor		A:0		ENSP00000408581	A:0	9-Sep	7.41E-05		8.64E-05	0.000116		1.50E-05		0.000363	rs542438666,COSM2156701,COSM3398521	9-Sep	.		ENST00000422113	Transcript		A:0.0002		integral to membrane		ENSG00000151952	g.chr12:129559351G>A	29411			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=T132D_HUMAN&rb=25&re=1097&var=T790M	NA	getma.org/?cm=var&var=hg19,12,129559351,G,A&fts=all	T790M	--	--	1																																		TMEM132D_uc001uia.2_Missense_Mutation_p.T328M	0,1,1	1		possibly_damaging(0.62)	p.T790M	NM_133448	NP_597705	A:0.001	tolerated(0.24)	0,1,1	T132D_HUMAN	TMEM132D	HGNC	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)			9	2697	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	UPI000023759C	790			Extracellular (Potential).		SNV	TMEM132D,missense_variant,p.Thr790Met,ENST00000422113,NM_133448.2;TMEM132D,missense_variant,p.Thr328Met,ENST00000389441,;	uc009zyl.1	c.2369C>T	2696/5776	1	1			c.2369C>T						12	SNP	c.(2368-2370)ACG>ATG	59	59			ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	Broad	transmembrane protein 132D precursor			129559351		0.483	ENSG00000151952	15799	g.chr12:129559351G>A		integral to membrane								156.07458	KEEP	26	35	-1	42	73	26	35	-1	160.00758	42	73	0.335366	1	0	0	0	0	1	0	0	0	--	--		0	A			TMEM132D_uc001uia.2_Missense_Mutation_p.T328M	172	GBM-19-5952-TP	p.T790M	G	GATGTTTGCCGTTCCAACAGC	NM_133448	NP_597705	129559351	Q14C87	T132D_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	2697	-	A	A	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	Missense_Mutation	790			Extracellular (Potential).			
TMEM132D	0	broad.mit.edu	GRCh37	12	129694161	129694161	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5215-01	TCGA-28-5215-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000422113.2:c.1347C>T	p.Ala449=	p.A449=	ENST00000422113	NM_133448.2	449	gcC/gcT	0		A:0.0008	1	A:0		A	A	uc009zyl.1	protein_coding	YES	CCDS9266.1			1347/3300								p.A449V(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	c.(1345-1347)GCC>GCT			Low_complexity_(Seg):seg,hmmpanther:PTHR13388	transmembrane protein 132D precursor		A:0		ENSP00000408581	A:0	9-May	3.29E-05	9.62E-05				1.50E-05	0.0011	6.06E-05	rs189348668,COSM3398524	9-May	.		ENST00000422113	Transcript		A:0.0002		integral to membrane		ENSG00000151952	g.chr12:129694161G>A	29411			LOW								--	--	1																																			0,1	1			p.A449A	NM_133448	NP_597705	A:0		0,1	T132D_HUMAN	TMEM132D	HGNC	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)			5	1675	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	UPI000023759C	449			Extracellular (Potential).		SNV	TMEM132D,synonymous_variant,p.=,ENST00000422113,NM_133448.2;RP11-669N7.3,non_coding_transcript_exon_variant,,ENST00000542578,;	uc009zyl.1	c.1347C>T	1674/5776	2	2			c.1347C>T						12	SNP	c.(1345-1347)GCC>GCT	39	39		p.A449V(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	Broad	transmembrane protein 132D precursor			129694161		0.572	ENSG00000151952	15799	g.chr12:129694161G>A		integral to membrane								31.090937	KEEP	8	13	-1	52	50	8	13	-1	40.724487	52	50	0.18	1	0	0	0	0	0	0	1	0	--	--		0	A				222	GBM-28-5215-TP	p.A449A	G	TCACCGGGACGGCCACCGTCT	NM_133448	NP_597705	129694161	Q14C87	T132D_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	5	1675	-	A	A	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	Silent	449			Extracellular (Potential).			
TMEM132D	0	broad.mit.edu	GRCh37	12	129558604	129558604	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01	TCGA-41-3393-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000422113.2:c.3116C>T	p.Thr1039Ile	p.T1039I	ENST00000422113	NM_133448.2	1039	aCc/aTc	0			1			A	T/I	uc009zyl.1	protein_coding	YES	CCDS9266.1			3116/3300									ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	c.(3115-3117)ACC>ATC			hmmpanther:PTHR13388	transmembrane protein 132D precursor				ENSP00000408581		9-Sep									COSM3398518,COSM3398519	9-Sep	.		ENST00000422113	Transcript				integral to membrane		ENSG00000151952	g.chr12:129558604G>A	29411			MODERATE		2.835	medium	getma.org/?cm=msa&ty=f&p=T132D_HUMAN&rb=25&re=1097&var=T1039I	NA	getma.org/?cm=var&var=hg19,12,129558604,G,A&fts=all	T1039I	--	--	1																																		TMEM132D_uc001uia.2_Missense_Mutation_p.T577I	1,1	1		probably_damaging(0.949)	p.T1039I	NM_133448	NP_597705		deleterious(0.01)	1,1	T132D_HUMAN	TMEM132D	HGNC	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)			9	3444	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	UPI000023759C	1039			Cytoplasmic (Potential).		SNV	TMEM132D,missense_variant,p.Thr1039Ile,ENST00000422113,NM_133448.2;TMEM132D,missense_variant,p.Thr577Ile,ENST00000389441,;	uc009zyl.1	c.3116C>T	3443/5776	2	2			c.3116C>T						12	SNP	c.(3115-3117)ACC>ATC	18	18			ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	Broad	transmembrane protein 132D precursor			129558604		0.488	ENSG00000151952	15799	g.chr12:129558604G>A		integral to membrane								-36.623627	KEEP	4	5	-1	118	116	4	5	-1	15.282469	118	116	0.039648	1	0	0	0	0	1	0	0	0	--	--		0	A			TMEM132D_uc001uia.2_Missense_Mutation_p.T577I	255	GBM-41-3393-TP	p.T1039I	G	CCTTTTTGAGGTAGGGGATGT	NM_133448	NP_597705	129558604	Q14C87	T132D_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	3444	-	A	A	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	Missense_Mutation	1039			Cytoplasmic (Potential).			
TMEM132D	121256		GRCh37	12	129563144	129563144	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000422113.2:c.2050C>T	p.Pro684Ser	p.P684S	ENST00000422113	NM_133448.2	684	Cca/Tca	0																																																																																																																																																																																																																																												
TMEM132E	0	broad.mit.edu	GRCh37	17	32956104	32956104	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01	TCGA-28-5208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321639.5:c.949C>T	p.Arg317Trp	p.R317W	ENST00000321639	NM_207313.1	317	Cgg/Tgg	0	T:0		1			T	R/W	uc002hif.2	protein_coding	YES	CCDS11283.1			949/2955									central_nervous_system(1)	1	c.(949-951)CGG>TGG			hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF7	transmembrane protein 132E precursor			T:0.0001	ENSP00000316532		10-May	1.65E-05				0.000151	1.52E-05			rs371393529,COSM460370	10-May	.		ENST00000321639	Transcript				integral to membrane		ENSG00000181291	g.chr17:32956104C>T	26991			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=T132E_HUMAN&rb=16&re=982&var=R317W	NA	getma.org/?cm=var&var=hg19,17,32956104,C,T&fts=all	R317W	--	--	1																																			0,1	1		probably_damaging(0.982)	p.R317W	NM_207313	NP_997196		deleterious(0)	0,1	T132E_HUMAN	TMEM132E	HGNC	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)			5	1277	+			UPI000035960F	317			Extracellular (Potential).		SNV	TMEM132E,missense_variant,p.Arg317Trp,ENST00000321639,NM_207313.1;	uc002hif.2	c.949C>T	1277/4369	1	1			c.949C>T						17	SNP	c.(949-951)CGG>TGG	11	11			central_nervous_system(1)	1	Broad	transmembrane protein 132E precursor			32956104		0.612	ENSG00000181291	15800	g.chr17:32956104C>T		integral to membrane								160.77585	KEEP	45	55	-1	64	66	45	55	-1	161.499214	64	66	0.421053	1	0	0	0	0	1	0	0	0	--	--		0	T				217	GBM-28-5208-TP	p.R317W	C	GTCAGTCAAGCGGAGGATCAT	NM_207313	NP_997196	32956104	Q6IEE7	T132E_HUMAN	0		BRCA - Breast invasive adenocarcinoma(366;0.231)	5	1277	+	T	T			Missense_Mutation	317			Extracellular (Potential).			
TMEM132E	124842		GRCh37	17	32953325	32953325	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000321639.5:c.247C>A	p.Gln83Lys	p.Q83K	ENST00000321639	NM_207313.1	83	Cag/Aag	0																																																																																																																																																																																																																																												
TMEM143	0	broad.mit.edu	GRCh37	19	48845929	48845929	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01	TCGA-19-5955-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000293261.3:c.833G>A	p.Arg278His	p.R278H	ENST00000293261	NM_018273.2	278	cGc/cAc	0			1			T	R/H	uc002pix.1	protein_coding	YES	CCDS12716.1			833/1380										0	c.(832-834)CGC>CAC			hmmpanther:PTHR16095:SF10,hmmpanther:PTHR16095,Pfam_domain:PF12576	transmembrane protein 143				ENSP00000293261		8-Jun									COSM1229557	8-Jun	.		ENST00000293261	Transcript				integral to membrane|mitochondrion		ENSG00000161558	g.chr19:48845929C>T	25603			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=TM143_HUMAN&rb=230&re=352&var=R278H	NA	getma.org/?cm=var&var=hg19,19,48845929,C,T&fts=all	R278H	--	--	1																																		TMEM143_uc002piw.1_Intron|TMEM143_uc002piy.1_Missense_Mutation_p.R243H|TMEM143_uc010xzn.1_Missense_Mutation_p.R213H|TMEM143_uc010elw.1_Missense_Mutation_p.R178H|TMEM143_uc010xzo.1_Missense_Mutation_p.R68H	1	1		possibly_damaging(0.773)	p.R278H	NM_018273	NP_060743		deleterious(0.01)	1	TM143_HUMAN	TMEM143	HGNC	Q96AN5	TM143_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)	M0QZ02_HUMAN		6	842	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)	UPI0000070A27	278					SNV	TMEM143,missense_variant,p.Arg278His,ENST00000293261,NM_018273.2;TMEM143,missense_variant,p.Arg243His,ENST00000435956,;TMEM143,missense_variant,p.Arg178His,ENST00000377431,;TMEM143,missense_variant,p.Arg213His,ENST00000436660,;TMEM143,missense_variant,p.Arg168His,ENST00000541566,;TMEM143,downstream_gene_variant,,ENST00000601522,;TMEM143,downstream_gene_variant,,ENST00000598926,;TMEM143,downstream_gene_variant,,ENST00000598258,;TMEM143,non_coding_transcript_exon_variant,,ENST00000600816,;TMEM143,downstream_gene_variant,,ENST00000595720,;TMEM143,downstream_gene_variant,,ENST00000601332,;TMEM143,downstream_gene_variant,,ENST00000597370,;TMEM143,downstream_gene_variant,,ENST00000599220,;	uc002pix.1	c.833G>A	1150/2560	2	2			c.833G>A						19	SNP	c.(832-834)CGC>CAC	34	34				0	Broad	transmembrane protein 143			48845929		0.637	ENSG00000161558	15809	g.chr19:48845929C>T		integral to membrane|mitochondrion								26.604272	KEEP	5	9	-1	31	46	5	9	-1	34.357299	31	46	0.177215	1	0	0	0	0	1	0	0	0	--	--		0	T			TMEM143_uc002piw.1_Intron|TMEM143_uc002piy.1_Missense_Mutation_p.R243H|TMEM143_uc010xzn.1_Missense_Mutation_p.R213H|TMEM143_uc010elw.1_Missense_Mutation_p.R178H|TMEM143_uc010xzo.1_Missense_Mutation_p.R68H	175	GBM-19-5955-TP	p.R278H	C	GAGCAGGGCGCGCTGCAGGGT	NM_018273	NP_060743	48845929	Q96AN5	TM143_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)	6	842	-	T	T		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)	Missense_Mutation	278						
TMEM144	55314	broad.mit.edu	GRCh37	4	159136389	159136389	+	synonymous_variant	Silent	SNP	C	C	G	rs149733307		TCGA-06-0750-01	TCGA-06-0750-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296529.6:c.156C>G	p.Ala52=	p.A52=	ENST00000296529	NM_018342.4	52	gcC/gcG	0			1			G	A	uc003ipx.2	protein_coding	YES	CCDS3799.1			156/1038										0	c.(154-156)GCC>GCG			Transmembrane_helices:TMhelix,hmmpanther:PTHR16119:SF12,hmmpanther:PTHR16119,Pfam_domain:PF07857	transmembrane protein 144				ENSP00000296529		13-Apr									COSM2151933	13-Apr	.		ENST00000296529	Transcript				integral to membrane		ENSG00000164124	g.chr4:159136389C>G	25633			LOW								--	--	1																																		TMEM144_uc010iqi.2_RNA	1	1			p.A52A	NM_018342	NP_060812			1	TM144_HUMAN	TMEM144	HGNC	Q7Z5S9	TM144_HUMAN		COAD - Colon adenocarcinoma(41;0.0539)	D6RDN8_HUMAN,D6RDF9_HUMAN,D6RCA2_HUMAN,D6RAX5_HUMAN,D6R9U5_HUMAN,D6R9I0_HUMAN		4	676	+	all_hematologic(180;0.24)	Renal(120;0.0854)	UPI0000140BEC	52			Helical; (Potential).		SNV	TMEM144,synonymous_variant,p.=,ENST00000514558,;TMEM144,synonymous_variant,p.=,ENST00000296529,NM_018342.4;TMEM144,synonymous_variant,p.=,ENST00000508243,;TMEM144,synonymous_variant,p.=,ENST00000505189,;TMEM144,synonymous_variant,p.=,ENST00000512481,;TMEM144,synonymous_variant,p.=,ENST00000502698,;TMEM144,synonymous_variant,p.=,ENST00000504569,;TMEM144,synonymous_variant,p.=,ENST00000505049,;TMEM144,synonymous_variant,p.=,ENST00000503200,;TMEM144,synonymous_variant,p.=,ENST00000514971,;TMEM144,downstream_gene_variant,,ENST00000509278,;TMEM144,downstream_gene_variant,,ENST00000511038,;TMEM144,downstream_gene_variant,,ENST00000513744,;TMEM144,downstream_gene_variant,,ENST00000514346,;TMEM144,synonymous_variant,p.=,ENST00000511532,;	uc003ipx.2	c.156C>G	676/3442	3	3			c.156C>G						4	SNP	c.(154-156)GCC>GCG	5	5				0	Broad	transmembrane protein 144			159136389		0.383	ENSG00000164124	15810	g.chr4:159136389C>G		integral to membrane								149.972306	KEEP	37	23	-1	71	46	37	23	-1	153.613273	71	46	0.335526	1	0	0	0	0	0	0	1	0	--	--		0	G			TMEM144_uc010iqi.2_RNA	70	GBM-06-0750-TP	p.A52A	C	GGTTGGTTGCCTTGGTTGTCA	NM_018342	NP_060812	159136389	Q7Z5S9	TM144_HUMAN	0		COAD - Colon adenocarcinoma(41;0.0539)	4	676	+	G	G	all_hematologic(180;0.24)	Renal(120;0.0854)	Silent	52			Helical; (Potential).			
TMEM14E	0	broad.mit.edu	GRCh37	3	152058532	152058532	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-28-5219-01	TCGA-28-5219-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408960.3:c.162T>C	p.Ser54=	p.S54=	ENST00000408960	NM_001123228.1	54	tcT/tcC	0			1			G	S	uc010hvo.2	protein_coding	YES	CCDS43161.1			162/378										0	c.(160-162)TCT>TCC			Pfam_domain:PF03647,hmmpanther:PTHR12668,hmmpanther:PTHR12668:SF4	transmembrane protein 14E				ENSP00000386163		1-Jan									COSM3408358,COSM3408359	1-Jan	.		ENST00000408960	Transcript				integral to membrane		ENSG00000221962	g.chr3:152058532A>G	34386			LOW								--	--	1																																		MBNL1_uc003ezh.2_Intron|MBNL1_uc003ezi.2_Intron|MBNL1_uc003ezj.2_Intron|MBNL1_uc003ezm.2_Intron|MBNL1_uc003ezl.2_Intron|MBNL1_uc003ezp.2_Intron|MBNL1_uc003ezn.2_Intron|MBNL1_uc003ezo.2_Intron	1,1	1			p.S54S	NM_001123228	NP_001116700			1,1	TM14E_HUMAN	TMEM14E	HGNC	Q6UXP3	TM14E_HUMAN					1	248	-			UPI00001D6969	54					SNV	TMEM14E,synonymous_variant,p.=,ENST00000408960,NM_001123228.1;MBNL1,intron_variant,,ENST00000282486,;MBNL1,intron_variant,,ENST00000282488,;MBNL1,intron_variant,,ENST00000355460,NM_207292.1;MBNL1,intron_variant,,ENST00000324210,NM_021038.3;MBNL1,intron_variant,,ENST00000498502,;MBNL1,intron_variant,,ENST00000357472,NM_207297.1;MBNL1,intron_variant,,ENST00000324196,NM_207296.1;MBNL1,intron_variant,,ENST00000545754,NM_207295.1;MBNL1,intron_variant,,ENST00000463374,NM_207293.1;MBNL1,intron_variant,,ENST00000485910,NM_207294.1;MBNL1,intron_variant,,ENST00000493459,;MBNL1,intron_variant,,ENST00000492948,;MBNL1,intron_variant,,ENST00000485509,;MBNL1,intron_variant,,ENST00000464596,;MBNL1,intron_variant,,ENST00000465907,;MBNL1,intron_variant,,ENST00000460591,;MBNL1,intron_variant,,ENST00000459747,;MBNL1,intron_variant,,ENST00000495875,;	uc010hvo.2	c.162T>C	248/1296	3	3			c.162T>C						3	SNP	c.(160-162)TCT>TCC	9	9				0	Broad	transmembrane protein 14E			152058532		0.453	ENSG00000221962	15818	g.chr3:152058532A>G		integral to membrane								93.202333	KEEP	17	14	-1	47	41	17	14	-1	98.649684	47	41	0.267857	1	0	0	0	0	0	0	1	0	--	--		0	G			MBNL1_uc003ezh.2_Intron|MBNL1_uc003ezi.2_Intron|MBNL1_uc003ezj.2_Intron|MBNL1_uc003ezm.2_Intron|MBNL1_uc003ezl.2_Intron|MBNL1_uc003ezp.2_Intron|MBNL1_uc003ezn.2_Intron|MBNL1_uc003ezo.2_Intron	225	GBM-28-5219-TP	p.S54S	A	GTGATGGCTGAGAAGCATCCA	NM_001123228	NP_001116700	152058532	Q6UXP3	TM14E_HUMAN	0			1	248	-	G	G			Silent	54						
TMEM150B	0	broad.mit.edu	GRCh37	19	55828201	55828201	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01	TCGA-19-5955-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326652.4:c.458C>T	p.Pro153Leu	p.P153L	ENST00000326652	NM_001282011.1	153	cCc/cTc	0			1			A	P/L	uc010esw.1	protein_coding	YES	CCDS42629.1			458/702										0	c.(457-459)CCC>CTC			Pfam_domain:PF10277,hmmpanther:PTHR21324,hmmpanther:PTHR21324:SF3,Transmembrane_helices:TMhelix	transmembrane protein 150B precursor				ENSP00000320757		8-Jul									COSM3404642	8-Jul	.		ENST00000326652	Transcript				integral to membrane		ENSG00000180061	g.chr19:55828201G>A	34415			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=T150B_HUMAN&rb=4&re=206&var=P153L	NA	getma.org/?cm=var&var=hg19,19,55828201,G,A&fts=all	P153L	--	--	1																																		TMEM150B_uc010yfu.1_Missense_Mutation_p.P153L|TMEM150B_uc010yfv.1_RNA|TMEM150B_uc010yfw.1_RNA	1	1		benign(0.075)	p.P153L	NM_001085488	NP_001078957		tolerated(0.11)	1	T150B_HUMAN	TMEM150B	HGNC	A6NC51	T150B_HUMAN			K7EM00_HUMAN,K7EKL2_HUMAN		7	631	-			UPI00001AF4D4	153			Cytoplasmic (Potential).		SNV	TMEM150B,missense_variant,p.Pro153Leu,ENST00000326652,NM_001282011.1;TMEM150B,missense_variant,p.Pro153Leu,ENST00000438693,NM_001085488.1;TMEM150B,missense_variant,p.Pro108Leu,ENST00000585918,;BRSK1,downstream_gene_variant,,ENST00000309383,NM_032430.1;BRSK1,downstream_gene_variant,,ENST00000590333,;BRSK1,downstream_gene_variant,,ENST00000326848,;TMEM150B,downstream_gene_variant,,ENST00000591570,;CTD-2105E13.14,upstream_gene_variant,,ENST00000596786,;TMEM150B,3_prime_UTR_variant,,ENST00000586609,;TMEM150B,3_prime_UTR_variant,,ENST00000592603,;TMEM150B,3_prime_UTR_variant,,ENST00000592731,;TMEM150B,downstream_gene_variant,,ENST00000592891,;	uc010esw.1	c.458C>T	641/943	2	2			c.458C>T						19	SNP	c.(457-459)CCC>CTC	28	28				0	Broad	transmembrane protein 150B precursor			55828201		0.617	ENSG00000180061	15820	g.chr19:55828201G>A		integral to membrane								9.790392	KEEP	1	4	-1	8	6	1	4	-1	10.880699	8	6	0.235294	1	0	0	0	0	1	0	0	0	--	--		0	A			TMEM150B_uc010yfu.1_Missense_Mutation_p.P153L|TMEM150B_uc010yfv.1_RNA|TMEM150B_uc010yfw.1_RNA	175	GBM-19-5955-TP	p.P153L	G	CAGGCGGAGGGGCCCAATCCA	NM_001085488	NP_001078957	55828201	A6NC51	T150B_HUMAN	0			7	631	-	A	A			Missense_Mutation	153			Cytoplasmic (Potential).			
TMEM150C	0	broad.mit.edu	GRCh37	4	83417295	83417295	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-28-2513-01	TCGA-28-2513-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449862.2:c.289C>A	p.Pro97Thr	p.P97T	ENST00000449862	NM_001080506.1	97	Ccg/Acg	0			1			T	P/T	uc003hmy.1	protein_coding		CCDS47087.1			289/750									ovary(1)	1	c.(289-291)CCG>ACG			Pfam_domain:PF10277,hmmpanther:PTHR21324,hmmpanther:PTHR21324:SF7,Transmembrane_helices:TMhelix	transmembrane protein 150C				ENSP00000403438		8-Jun									COSM3409578	8-Jun	.		ENST00000449862	Transcript				integral to membrane		ENSG00000249242	g.chr4:83417295G>T	37263			MODERATE		1.295	low	getma.org/?cm=msa&ty=f&p=T150C_HUMAN&rb=8&re=218&var=P97T	NA	getma.org/?cm=var&var=hg19,4,83417295,G,T&fts=all	P97T	--	--	1																																		TMEM150C_uc011ccj.1_Missense_Mutation_p.P127T	1			probably_damaging(0.951)	p.P97T	NM_001080506	NP_001073975		tolerated(0.07)	1	T150C_HUMAN	TMEM150C	HGNC	B9EJG8	T150C_HUMAN			D6RDW6_HUMAN		6	367	-			UPI000020B0D7	97					SNV	TMEM150C,missense_variant,p.Pro97Thr,ENST00000515780,;TMEM150C,missense_variant,p.Pro97Thr,ENST00000449862,NM_001080506.1;TMEM150C,missense_variant,p.Pro97Thr,ENST00000508701,;RP11-791G16.2,non_coding_transcript_exon_variant,,ENST00000488045,;RP11-791G16.2,upstream_gene_variant,,ENST00000471756,;RPL7AP26,upstream_gene_variant,,ENST00000488538,;	uc003hmy.1	c.289C>A	608/1990	1	1			c.289C>A						4	SNP	c.(289-291)CCG>ACG	5	5			ovary(1)	1	Broad	transmembrane protein 150C			83417295		0.418	ENSG00000249242	15821	g.chr4:83417295G>T		integral to membrane								33.789681	KEEP	10	11	0.476190476	55	55	10	11	0.476190476	45.605508	55	55	0.163636	1	0	0	0	0	1	0	0	0	--	--		0	T			TMEM150C_uc011ccj.1_Missense_Mutation_p.P127T	213	GBM-28-2513-TP	p.P97T	G	TTCAGCCACGGGTTTAAAACC	NM_001080506	NP_001073975	83417295	B9EJG8	T150C_HUMAN	0			6	367	-	T	T			Missense_Mutation	97						
TMEM161A	0	broad.mit.edu	GRCh37	19	19243312	19243312	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01	TCGA-12-0616-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000162044.9:c.292C>T	p.Arg98Cys	p.R98C	ENST00000162044	NM_017814.2	98	Cgc/Tgc	0		A:0	1	A:0		A	R/C	uc002nlg.2	protein_coding	YES	CCDS12393.1			292/1440									breast(2)	2	c.(292-294)CGC>TGC			Pfam_domain:PF10268,hmmpanther:PTHR13624:SF4,hmmpanther:PTHR13624	transmembrane protein 161A precursor		A:0		ENSP00000162044	A:0.001	12-May	1.65E-05		8.65E-05		0.000151				rs201715053,COSM3403981	12-May	.		ENST00000162044	Transcript		A:0.0002	cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane		ENSG00000064545	g.chr19:19243312G>A	26020			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=T161A_HUMAN&rb=2&re=479&var=R98C	NA	getma.org/?cm=var&var=hg19,19,19243312,G,A&fts=all	R98C	--	--	1																																		TMEM161A_uc010eca.2_RNA|TMEM161A_uc002nlh.2_Intron|TMEM161A_uc002nli.2_Intron|TMEM161A_uc002nlj.2_5'UTR	0,1	1		benign(0.066)	p.R98C	NM_017814	NP_060284	A:0	deleterious(0.04)	0,1	T161A_HUMAN	TMEM161A	HGNC	Q9NX61	T161A_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)		K7EQE7_HUMAN,K7EQ34_HUMAN		5	322	-			UPI00000373EF	98			Extracellular (Potential).		SNV	TMEM161A,missense_variant,p.Arg98Cys,ENST00000162044,NM_017814.2;TMEM161A,missense_variant,p.Arg81Cys,ENST00000587096,;TMEM161A,missense_variant,p.Arg81Cys,ENST00000587915,;TMEM161A,5_prime_UTR_variant,,ENST00000592369,;TMEM161A,intron_variant,,ENST00000450333,NM_001256766.1;TMEM161A,intron_variant,,ENST00000587583,;TMEM161A,upstream_gene_variant,,ENST00000587925,;TMEM161A,downstream_gene_variant,,ENST00000592147,;TMEM161A,missense_variant,p.Arg98Cys,ENST00000587985,;TMEM161A,3_prime_UTR_variant,,ENST00000590216,;TMEM161A,non_coding_transcript_exon_variant,,ENST00000587406,;TMEM161A,non_coding_transcript_exon_variant,,ENST00000589448,;TMEM161A,upstream_gene_variant,,ENST00000591031,;TMEM161A,downstream_gene_variant,,ENST00000586357,;	uc002nlg.2	c.292C>T	357/1820	1	1			c.292C>T						19	SNP	c.(292-294)CGC>TGC	62	62			breast(2)	2	Broad	transmembrane protein 161A precursor			19243312		0.582	ENSG00000064545	15827	g.chr19:19243312G>A	cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane								-24.593277	KEEP	3	4	-1	89	92	3	4	-1	12.17573	89	92	0.037736	1	0	0	0	0	1	0	0	0	--	--		0	A			TMEM161A_uc010eca.2_RNA|TMEM161A_uc002nlh.2_Intron|TMEM161A_uc002nli.2_Intron|TMEM161A_uc002nlj.2_5'UTR	118	GBM-12-0616-TP	p.R98C	G	AGGAAGAAGCGCAGGACTGTG	NM_017814	NP_060284	19243312	Q9NX61	T161A_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)		5	322	-	A	A			Missense_Mutation	98			Extracellular (Potential).			
TMEM161B	153396		GRCh37	5	87516531	87516531	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000296595.6:c.295C>G	p.His99Asp	p.H99D	ENST00000296595	NM_153354.3	99	Cat/Gat	0																																																																																																																																																																																																																																												
TMEM163	81615		GRCh37	2	135470799	135470799	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000281924.6:c.293T>C	p.Val98Ala	p.V98A	ENST00000281924	NM_030923.4	98	gTc/gCc	0																																																																																																																																																																																																																																												
TMEM174	134288	broad.mit.edu	GRCh37	5	72469988	72469988	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01	TCGA-06-0192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296776.5:c.728G>A	p.Arg243His	p.R243H	ENST00000296776	NM_153217.2	243	cGc/cAc	0			1			A	R/H	uc010izc.2	protein_coding	YES	CCDS4018.1			728/732									ovary(1)	1	c.(727-729)CGC>CAC			hmmpanther:PTHR31020	transmembrane protein 174				ENSP00000296776		2-Feb	1.65E-05					1.50E-05		6.07E-05	rs779212422,COSM2150665	2-Feb	.		ENST00000296776	Transcript				integral to membrane		ENSG00000164325	g.chr5:72469988G>A	28187			MODERATE		2.075	medium	getma.org/?cm=msa&ty=f&p=TM174_HUMAN&rb=148&re=243&var=R243H	NA	getma.org/?cm=var&var=hg19,5,72469988,G,A&fts=all	R243H	--	--	1																																			0,1	1		benign(0.011)	p.R243H	NM_153217	NP_694949		tolerated_low_confidence(0.14)	0,1	TM174_HUMAN	TMEM174	HGNC	Q8WUU8	TM174_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)			2	776	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	UPI0000037779	243					SNV	TMEM174,missense_variant,p.Arg243His,ENST00000296776,NM_153217.2;TMEM174,intron_variant,,ENST00000511737,;	uc010izc.2	c.728G>A	777/1759	2	2			c.728G>A						5	SNP	c.(727-729)CGC>CAC	44	44			ovary(1)	1	Broad	transmembrane protein 174			72469988		0.478	ENSG00000164325	15841	g.chr5:72469988G>A		integral to membrane								137.150892	KEEP	31	22	-1	45	45	31	22	-1	138.934345	45	45	0.377778	1	0	0	0	0	1	0	0	0	--	--		0	A				44	GBM-06-0192-TP	p.R243H	G	TCTCTCCCTCGCTAGAGGCTA	NM_153217	NP_694949	72469988	Q8WUU8	TM174_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)	2	776	+	A	A		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	Missense_Mutation	243						
TMEM174	0	broad.mit.edu	GRCh37	5	72469396	72469396	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs34059261	byFrequency	TCGA-27-2527-01	TCGA-27-2527-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296776.5:c.326C>T	p.Pro109Leu	p.P109L	ENST00000296776	NM_153217.2	109	cCg/cTg	0	T:0.0007	A:0	1	A:0		T	P/L	uc010izc.2	protein_coding	YES	CCDS4018.1			326/732									ovary(1)	1	c.(325-327)CCG>CTG			hmmpanther:PTHR31020,Pfam_domain:PF15029	transmembrane protein 174		A:0	T:0	ENSP00000296776	A:0	2-Jan	4.12E-05	0.000288				3.00E-05			rs34059261,COSM3410398	2-Jan	.		ENST00000296776	Transcript		A:0.0002		integral to membrane		ENSG00000164325	g.chr5:72469396C>T	28187			MODERATE		-0.46	neutral	getma.org/?cm=msa&ty=f&p=TM174_HUMAN&rb=1&re=147&var=P109L	NA	getma.org/?cm=var&var=hg19,5,72469396,C,T&fts=all	P109L	--	--	1																																			0,1	1		benign(0.001)	p.P109L	NM_153217	NP_694949	A:0.001	tolerated(0.36)	0,1	TM174_HUMAN	TMEM174	HGNC	Q8WUU8	TM174_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)			1	374	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	UPI0000037779	109					SNV	TMEM174,missense_variant,p.Pro109Leu,ENST00000296776,NM_153217.2;TMEM174,non_coding_transcript_exon_variant,,ENST00000511737,;	uc010izc.2	c.326C>T	375/1759	2	2			c.326C>T						5	SNP	c.(325-327)CCG>CTG	42	42			ovary(1)	1	Broad	transmembrane protein 174			72469396		0.527	ENSG00000164325	15841	g.chr5:72469396C>T		integral to membrane								53.086326	KEEP	17	14	-1	95	94	17	14	-1	76.375475	95	94	0.147959	1	0	0	0	0	1	0	0	0	--	--		0	T				204	GBM-27-2527-TP	p.P109L	C	GAAAGGGTCCCGGACTCGGAA	NM_153217	NP_694949	72469396	Q8WUU8	TM174_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)	1	374	+	T	T		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	Missense_Mutation	109						
TMEM174	0	broad.mit.edu	GRCh37	5	72469563	72469563	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs138671212		TCGA-74-6573-01	TCGA-74-6573-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296776.5:c.493G>A	p.Gly165Ser	p.G165S	ENST00000296776	NM_153217.2	165	Ggc/Agc	0	A:0.0005	A:0.0008	1	A:0		A	G/S	uc010izc.2	protein_coding	YES	CCDS4018.1			493/732									ovary(1)	1	c.(493-495)GGC>AGC			hmmpanther:PTHR31020,Pfam_domain:PF15029	transmembrane protein 174		A:0	A:0	ENSP00000296776	A:0	2-Jan	6.59E-05	0.000481				3.00E-05		6.06E-05	rs138671212,COSM450032	2-Jan	common_variant		ENST00000296776	Transcript		A:0.0002		integral to membrane		ENSG00000164325	g.chr5:72469563G>A	28187			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=TM174_HUMAN&rb=148&re=243&var=G165S	NA	getma.org/?cm=var&var=hg19,5,72469563,G,A&fts=all	G165S	--	--	1																																			0,1	1		benign(0.11)	p.G165S	NM_153217	NP_694949	A:0	tolerated(0.26)	0,1	TM174_HUMAN	TMEM174	HGNC	Q8WUU8	TM174_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)			1	541	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	UPI0000037779	165					SNV	TMEM174,missense_variant,p.Gly165Ser,ENST00000296776,NM_153217.2;TMEM174,intron_variant,,ENST00000511737,;	uc010izc.2	c.493G>A	542/1759	1	1			c.493G>A						5	SNP	c.(493-495)GGC>AGC	53	53			ovary(1)	1	Broad	transmembrane protein 174			72469563		0.547	ENSG00000164325	15841	g.chr5:72469563G>A		integral to membrane								-10.271109	KEEP	2	2	-1	41	48	2	2	-1	6.691384	41	48	0.050633	1	0	0	0	0	1	0	0	0	--	--		0	A				260	GBM-74-6573-TP	p.G165S	G	GAGCCCCTGCGGCCTCATAAC	NM_153217	NP_694949	72469563	Q8WUU8	TM174_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)	1	541	+	A	A		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	Missense_Mutation	165						
TMEM18	0	broad.mit.edu	GRCh37	2	669581	669581	+	stop_retained_variant	Silent	SNP	C	C	T			TCGA-26-5133-01	TCGA-26-5133-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281017.3:c.422G>A	p.Ter141=	p.*141=	ENST00000281017	NM_152834.2	141	tGa/tAa	0			1			T	*	uc002qwl.2	protein_coding	YES	CCDS33141.1			422/423									ovary(1)	1	c.(421-423)TGA>TAA				transmembrane protein 18				ENSP00000281017		5-May									COSM2156948,COSM3407934	5-May	.		ENST00000281017	Transcript			cell migration	integral to membrane|nuclear membrane		ENSG00000151353	g.chr2:669581C>T	25257			LOW								--	--	1																																		TMEM18_uc002qwk.2_RNA	1,1	1			p.*141*	NM_152834	NP_690047			1,1	TMM18_HUMAN	TMEM18	HGNC	Q96B42	TMM18_HUMAN		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)			5	516	-	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)	UPI0000208A7D	141					SNV	TMEM18,stop_retained_variant,p.=,ENST00000281017,NM_152834.2;TMEM18,stop_retained_variant,p.=,ENST00000355654,;TMEM18,stop_retained_variant,p.=,ENST00000405941,;TMEM18,3_prime_UTR_variant,,ENST00000432667,;TMEM18,non_coding_transcript_exon_variant,,ENST00000477202,;TMEM18,non_coding_transcript_exon_variant,,ENST00000497508,;	uc002qwl.2	c.422G>A	516/2762	2	2			c.422G>A						2	SNP	c.(421-423)TGA>TAA	22	22			ovary(1)	1	Broad	transmembrane protein 18			669581		0.448	ENSG00000151353	15849	g.chr2:669581C>T	cell migration	integral to membrane|nuclear membrane								302.770076	KEEP	49	53	-1	36	38	49	53	-1	303.991539	36	38	0.590643	1	0	0	0	0	0	0	1	0	--	--		0	T			TMEM18_uc002qwk.2_RNA	182	GBM-26-5133-TP	p.*141*	C	TGCTGCCCCTCAGTCttcttt	NM_152834	NP_690047	669581	Q96B42	TMM18_HUMAN	0		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)	5	516	-	T	T	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)	Silent	141						
TMEM182	130827	broad.mit.edu	GRCh37	2	103379127	103379133	+	frameshift_variant	Frame_Shift_Del	DEL	ATTTGGA	ATTTGGA	-			TCGA-06-0878-01	TCGA-06-0878-01	ATTTGGA	ATTTGGA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000412401.2:c.215_221del	p.Ile72SerfsTer24	p.I72Sfs*24	ENST00000412401	NM_144632.3	72	ATTTGGAag/ag	0			1			-	IWK/X	uc010fjb.2	protein_coding	YES	CCDS2064.1			214-220/690										0	c.(214-222)ATTTGGAAGfs			Pfam_domain:PF13903,hmmpanther:PTHR32012	transmembrane protein 182 precursor				ENSP00000394178		5-Feb										5-Feb	.		ENST00000412401	Transcript				integral to membrane		ENSG00000170417	g.chr2:103379127_103379133delATTTGGA	26391	1		HIGH								--	--	1																																		TMEM182_uc002tcc.3_Frame_Shift_Del_p.I29fs|TMEM182_uc002tcd.3_5'UTR		1			p.I72fs	NM_144632	NP_653233				TM182_HUMAN	TMEM182	HGNC	Q6ZP80	TM182_HUMAN					2	401_407	+			UPI0000366F4E	72_74			Extracellular (Potential).		deletion	TMEM182,frameshift_variant,p.Ile72SerfsTer24,ENST00000412401,NM_144632.3;TMEM182,frameshift_variant,p.Ile29SerfsTer24,ENST00000409173,;TMEM182,frameshift_variant,p.Ile29SerfsTer24,ENST00000454536,;TMEM182,5_prime_UTR_variant,,ENST00000409528,;TMEM182,non_coding_transcript_exon_variant,,ENST00000486293,;TMEM182,non_coding_transcript_exon_variant,,ENST00000469971,;TMEM182,non_coding_transcript_exon_variant,,ENST00000488134,;	uc010fjb.2	c.214_220delATTTGGA	419-425/3593	5	5			c.214_220delATTTGGA						2	DEL	c.(214-222)ATTTGGAAGfs	29	29				0	Broad	transmembrane protein 182 precursor			103379133		0.362	ENSG00000170417	15852	g.chr2:103379127_103379133delATTTGGA		integral to membrane																					0.09	1	1	0	1	0	0	0	0	0	--	--		0	-			TMEM182_uc002tcc.3_Frame_Shift_Del_p.I29fs|TMEM182_uc002tcd.3_5'UTR	74	GBM-06-0878-TP	p.I72fs	ATTTGGA	TGACTCCAATATTTGGAAGTTCTGGTA	NM_144632	NP_653233	103379127	Q6ZP80	TM182_HUMAN	0			2	401_407	+	-	-			Frame_Shift_Del	72_74			Extracellular (Potential).			
TMEM184A	202915	broad.mit.edu	GRCh37	7	1588261	1588261	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0171-01	TCGA-06-0171-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297477.5:c.708C>T	p.Tyr236=	p.Y236=	ENST00000297477	NM_001097620.1	236	taC/taT	0		A:0	1	A:0		A	Y	uc003skv.3	protein_coding	YES	CCDS43537.1			708/1242										0	c.(706-708)TAC>TAT			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR23423,hmmpanther:PTHR23423:SF20,Pfam_domain:PF03619	transmembrane protein 184A		A:0		ENSP00000297477	A:0	9-Jul	0.000445		0.000173			0.000136	0.00223	0.00248	rs532306357,COSM2150354	9-Jul	common_variant		ENST00000297477	Transcript		A:0.0002		integral to membrane		ENSG00000164855	g.chr7:1588261G>A	28797			LOW								--	--	1																																		TMEM184A_uc003skt.3_Silent_p.Y215Y|TMEM184A_uc003skw.3_Silent_p.Y41Y	0,1	1			p.Y236Y	NM_001097620	NP_001091089	A:0.001		0,1	T184A_HUMAN	TMEM184A	HGNC	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	C9JKG9_HUMAN,C9JDD9_HUMAN,C9J4I0_HUMAN		7	1025	-		Ovarian(82;0.0253)	UPI000013E413	236			Helical; (Potential).		SNV	TMEM184A,synonymous_variant,p.=,ENST00000297477,NM_001097620.1;TMEM184A,downstream_gene_variant,,ENST00000319010,;TMEM184A,downstream_gene_variant,,ENST00000441933,;TMEM184A,downstream_gene_variant,,ENST00000431208,;TMEM184A,downstream_gene_variant,,ENST00000414730,;TMEM184A,upstream_gene_variant,,ENST00000449955,;TMEM184A,upstream_gene_variant,,ENST00000421996,;TMEM184A,3_prime_UTR_variant,,ENST00000319018,;TMEM184A,non_coding_transcript_exon_variant,,ENST00000468535,;TMEM184A,downstream_gene_variant,,ENST00000474813,;TMEM184A,downstream_gene_variant,,ENST00000421923,;	uc003skv.3	c.708C>T	1025/6276	1	1			c.708C>T						7	SNP	c.(706-708)TAC>TAT	54	54				0	Broad	transmembrane protein 184A			1588261		0.607	ENSG00000164855	15855	g.chr7:1588261G>A		integral to membrane								109.35542	KEEP	21	31	-1	67	82	21	31	-1	119.639755	67	82	0.251366	1	0	0	0	0	0	0	1	0	--	--		0	A			TMEM184A_uc003skt.3_Silent_p.Y215Y|TMEM184A_uc003skw.3_Silent_p.Y41Y	35	GBM-06-0171-TP	p.Y236Y	G	GGAACAGGGCGTAGAGGGCGA	NM_001097620	NP_001091089	1588261	Q6ZMB5	T184A_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	7	1025	-	A	A		Ovarian(82;0.0253)	Silent	236			Helical; (Potential).			
TMEM184B	0	broad.mit.edu	GRCh37	22	38617546	38617546	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01	TCGA-28-2502-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361684.4:c.1154G>A	p.Arg385His	p.R385H	ENST00000361684	NM_001195071.1	385	cGc/cAc	0			1			T	R/H	uc003avf.1	protein_coding		CCDS13969.2			1154/1224										0	c.(1153-1155)CGC>CAC			hmmpanther:PTHR23423:SF20,hmmpanther:PTHR23423	transmembrane protein 184B				ENSP00000354441		9-Sep									COSM3405668	9-Sep	.		ENST00000361684	Transcript				integral to membrane		ENSG00000198792	g.chr22:38617546C>T	1310			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=T184B_HUMAN&rb=320&re=407&var=R385H	NA	getma.org/?cm=var&var=hg19,22,38617546,C,T&fts=all	R385H	--	--	1																																		TMEM184B_uc003avg.1_Missense_Mutation_p.R385H|TMEM184B_uc003avh.1_Missense_Mutation_p.R319H	1			benign(0.003)	p.R385H	NM_012264	NP_036396		tolerated(0.07)	1	T184B_HUMAN	TMEM184B	HGNC	Q9Y519	T184B_HUMAN			Q6AHY5_HUMAN,B0QY30_HUMAN		9	1378	-	Melanoma(58;0.045)		UPI00001A92F8	385					SNV	TMEM184B,missense_variant,p.Arg385His,ENST00000361906,NM_001195072.1,NM_012264.4;TMEM184B,missense_variant,p.Arg385His,ENST00000361684,NM_001195071.1;TMEM184B,non_coding_transcript_exon_variant,,ENST00000504337,;TMEM184B,downstream_gene_variant,,ENST00000464059,;TMEM184B,3_prime_UTR_variant,,ENST00000436674,;TMEM184B,downstream_gene_variant,,ENST00000488844,;AL021977.1,upstream_gene_variant,,ENST00000541788,;	uc003avf.1	c.1154G>A	1378/3593	2	2			c.1154G>A						22	SNP	c.(1153-1155)CGC>CAC	21	21				0	Broad	transmembrane protein 184B			38617546		0.652	ENSG00000198792	15856	g.chr22:38617546C>T		integral to membrane								6.655357	KEEP	4	4	-1	19	25	4	4	-1	10.723954	19	25	0.147059	1	0	0	0	0	1	0	0	0	--	--		0	T			TMEM184B_uc003avg.1_Missense_Mutation_p.R385H|TMEM184B_uc003avh.1_Missense_Mutation_p.R319H	210	GBM-28-2502-TP	p.R385H	C	GCTGTGGGAGCGGGAGAGGCC	NM_012264	NP_036396	38617546	Q9Y519	T184B_HUMAN	0			9	1378	-	T	T	Melanoma(58;0.045)		Missense_Mutation	385						
TMEM184C	55751		GRCh37	4	148545074	148545074	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000296582.3:c.213A>G	p.Leu71=	p.L71=	ENST00000296582	NM_018241.2	71	ttA/ttG	0																																																																																																																																																																																																																																												
TMEM186	25880	broad.mit.edu	GRCh37	16	8890029	8890029	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5408-01	TCGA-06-5408-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333050.6:c.422G>A	p.Arg141Gln	p.R141Q	ENST00000333050	NM_015421.3	141	cGg/cAg	0		T:0	1	T:0		T	R/Q	uc002cze.2	protein_coding	YES	CCDS10535.1			422/642									ovary(1)	1	c.(421-423)CGG>CAG			Pfam_domain:PF14640,hmmpanther:PTHR13603	transmembrane protein 186		T:0		ENSP00000331640	T:0	2-Feb	0.000428							0.00315	rs563605311,COSM3402542	2-Feb	common_variant		ENST00000333050	Transcript		T:0.0006		integral to membrane|mitochondrion		ENSG00000184857	g.chr16:8890029C>T	24530			MODERATE		2.25	medium	getma.org/?cm=msa&ty=f&p=TM186_HUMAN&rb=2&re=205&var=R141Q	NA	getma.org/?cm=var&var=hg19,16,8890029,C,T&fts=all	R141Q	--	--	1																																		PMM2_uc002czf.3_5'Flank|PMM2_uc010uyf.1_5'Flank|PMM2_uc010uyg.1_5'Flank|PMM2_uc010uyh.1_5'Flank|PMM2_uc010buj.2_5'Flank|PMM2_uc010uyi.1_5'Flank|PMM2_uc010uye.1_5'Flank	0,1	1		benign(0.392)	p.R141Q	NM_015421	NP_056236	T:0.0031	deleterious(0.03)	0,1	TM186_HUMAN	TMEM186	HGNC	Q96B77	TM186_HUMAN					2	456	-			UPI000007107C	141					SNV	TMEM186,missense_variant,p.Arg141Gln,ENST00000333050,NM_015421.3;PMM2,intron_variant,,ENST00000566983,;PMM2,upstream_gene_variant,,ENST00000268261,NM_000303.2;PMM2,upstream_gene_variant,,ENST00000539622,;PMM2,upstream_gene_variant,,ENST00000537352,;PMM2,upstream_gene_variant,,ENST00000569958,;TMEM186,intron_variant,,ENST00000564869,;PMM2,downstream_gene_variant,,ENST00000565837,;PMM2,upstream_gene_variant,,ENST00000566540,;PMM2,upstream_gene_variant,,ENST00000564030,;PMM2,upstream_gene_variant,,ENST00000570076,;PMM2,upstream_gene_variant,,ENST00000566604,;PMM2,upstream_gene_variant,,ENST00000562318,;PMM2,upstream_gene_variant,,ENST00000565221,;PMM2,upstream_gene_variant,,ENST00000562448,;PMM2,upstream_gene_variant,,ENST00000570134,;PMM2,upstream_gene_variant,,ENST00000564069,;PMM2,upstream_gene_variant,,ENST00000568602,;PMM2,upstream_gene_variant,,ENST00000566196,;PMM2,upstream_gene_variant,,ENST00000565896,;	uc002cze.2	c.422G>A	456/1448	2	2			c.422G>A						16	SNP	c.(421-423)CGG>CAG	33	33			ovary(1)	1	Broad	transmembrane protein 186			8890029		0.557	ENSG00000184857	15859	g.chr16:8890029C>T		integral to membrane|mitochondrion								125.002887	KEEP	15	26	-1	26	37	15	26	-1	125.394438	26	37	0.430108	1	0	0	0	0	1	0	0	0	--	--		0	T			PMM2_uc002czf.3_5'Flank|PMM2_uc010uyf.1_5'Flank|PMM2_uc010uyg.1_5'Flank|PMM2_uc010uyh.1_5'Flank|PMM2_uc010buj.2_5'Flank|PMM2_uc010uyi.1_5'Flank|PMM2_uc010uye.1_5'Flank	92	GBM-06-5408-TP	p.R141Q	C	ATGGGCCACCCGCAGCATGGT	NM_015421	NP_056236	8890029	Q96B77	TM186_HUMAN	0			2	456	-	T	T			Missense_Mutation	141						
TMEM19	0	broad.mit.edu	GRCh37	12	72092727	72092727	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01	TCGA-12-0615-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266673.5:c.685G>A	p.Gly229Ser	p.G229S	ENST00000266673	NM_018279.3	229	Ggt/Agt	0			1			A	G/S	uc001sws.2	protein_coding	YES	CCDS9002.1			685/1011										0	c.(685-687)GGT>AGT			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR13353:SF5,hmmpanther:PTHR13353,Pfam_domain:PF01940	transmembrane protein 19				ENSP00000266673		6-May									COSM2153483,COSM2153484	6-May	.		ENST00000266673	Transcript				integral to membrane		ENSG00000139291	g.chr12:72092727G>A	25605			MODERATE		3.83	high	getma.org/?cm=msa&ty=f&p=TMM19_HUMAN&rb=57&re=325&var=G229S	NA	getma.org/?cm=var&var=hg19,12,72092727,G,A&fts=all	G229S	--	--	1																																		TMEM19_uc001swr.1_Missense_Mutation_p.G215S|TMEM19_uc009zru.1_RNA	1,1	1		probably_damaging(0.982)	p.G229S	NM_018279	NP_060749		deleterious(0)	1,1	TMM19_HUMAN	TMEM19	HGNC	Q96HH6	TMM19_HUMAN		GBM - Glioblastoma multiforme(134;0.044)	F8VS20_HUMAN,F8VRE8_HUMAN		5	1268	+		Breast(359;0.0889)	UPI000006EFAF	229			Helical; (Potential).		SNV	TMEM19,missense_variant,p.Gly229Ser,ENST00000266673,NM_018279.3;TMEM19,missense_variant,p.Gly229Ser,ENST00000549735,;TMEM19,missense_variant,p.Gly128Ser,ENST00000546677,;TMEM19,missense_variant,p.Gly45Ser,ENST00000550787,;TMEM19,missense_variant,p.Gly73Ser,ENST00000546795,;TMEM19,downstream_gene_variant,,ENST00000550524,;RP11-293I14.2,3_prime_UTR_variant,,ENST00000548802,;	uc001sws.2	c.685G>A	1279/4666	2	2			c.685G>A						12	SNP	c.(685-687)GGT>AGT	25	25				0	Broad	transmembrane protein 19			72092727		0.443	ENSG00000139291	15864	g.chr12:72092727G>A		integral to membrane								260.670627	KEEP	49	53	-1	84	84	49	53	-1	263.65979	84	84	0.37931	1	0	0	0	0	1	0	0	0	--	--		0	A			TMEM19_uc001swr.1_Missense_Mutation_p.G215S|TMEM19_uc009zru.1_RNA	117	GBM-12-0615-TP	p.G229S	G	CAGTCTCCTTGGTGGTACCTT	NM_018279	NP_060749	72092727	Q96HH6	TMM19_HUMAN	0		GBM - Glioblastoma multiforme(134;0.044)	5	1268	+	A	A		Breast(359;0.0889)	Missense_Mutation	229			Helical; (Potential).			
TMEM196	0	broad.mit.edu	GRCh37	7	19765216	19765216	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01	TCGA-27-1831-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000405764.3:c.380G>A	p.Arg127Gln	p.R127Q	ENST00000405764	NM_152774.3	127	cGa/cAa	0			1			T	R/Q	uc011jyg.1	protein_coding	YES	CCDS34607.2			380/519										0	c.(379-381)CGA>CAA			Transmembrane_helices:TMhelix	transmembrane protein 196				ENSP00000384234		4-Mar									COSM3411892,COSM3411891,COSM3411893	4-Mar	.		ENST00000405764	Transcript				integral to membrane		ENSG00000173452	g.chr7:19765216C>T	22431			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=TM196_HUMAN&rb=1&re=174&var=R133Q	NA	getma.org/?cm=var&var=hg19,7,19765216,C,T&fts=all	R133Q	--	--	1																																		TMEM196_uc003sur.2_RNA	1,1,1	1		unknown(0)	p.R127Q	NM_152774	NP_689987		deleterious(0.03)	1,1,1	TM196_HUMAN	TMEM196	HGNC	Q5HYL7	TM196_HUMAN					3	465	-			UPI00005A9078	133					SNV	TMEM196,missense_variant,p.Arg127Gln,ENST00000405844,;TMEM196,missense_variant,p.Arg127Gln,ENST00000405764,NM_152774.3;TMEM196,missense_variant,p.Arg59Gln,ENST00000422233,;TMEM196,missense_variant,p.Arg59Gln,ENST00000433641,;TMEM196,missense_variant,p.Arg59Gln,ENST00000493519,;	uc011jyg.1	c.380G>A	1077/3975	1	1			c.380G>A						7	SNP	c.(379-381)CGA>CAA	1	1				0	Broad	transmembrane protein 196			19765216		0.498	ENSG00000173452	15869	g.chr7:19765216C>T		integral to membrane								73.657089	KEEP	13	21	-1	52	69	13	21	-1	84.228945	52	69	0.216783	1	0	0	0	0	1	0	0	0	--	--		0	T			TMEM196_uc003sur.2_RNA	190	GBM-27-1831-TP	p.R127Q	C	ACTGGCTAGTCGACAAGTGAG	NM_152774	NP_689987	19765216	Q5HYL7	TM196_HUMAN	0			3	465	-	T	T			Missense_Mutation	133						
TMEM198	130612	broad.mit.edu	GRCh37	2	220414057	220414057	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0875-01	TCGA-06-0875-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344458.2:c.926A>G	p.Asn309Ser	p.N309S	ENST00000344458		309	aAt/aGt	0		G:0	1	G:0		G	N/S	uc002vme.2	protein_coding	YES	CCDS33385.1			926/1083									ovary(1)	1	c.(925-927)AAT>AGT			hmmpanther:PTHR31247,hmmpanther:PTHR31247:SF2	transmembrane protein 198		G:0		ENSP00000343507	G:0	6-May	8.24E-05		0.000174	0.000116		3.05E-05		0.000305	rs564632806,COSM2152005,COSM2152004	6-May	.		ENST00000344458	Transcript		G:0.0002		integral to membrane		ENSG00000188760	g.chr2:220414057A>G	33704			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TM198_HUMAN&rb=238&re=360&var=N309S	NA	getma.org/?cm=var&var=hg19,2,220414057,A,G&fts=all	N309S	--	--	1																																		TMEM198_uc002vmf.2_Missense_Mutation_p.N309S|hsa-mir-3132|MI0014152_5'Flank	0,1,1	1		benign(0.11)	p.N309S	NM_001005209	NP_001005209	G:0.001	tolerated(0.51)	0,1,1	TM198_HUMAN	TMEM198	HGNC	Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	C9JXI5_HUMAN,B4DYC9_HUMAN,B3KVR4_HUMAN		5	1511	+		Renal(207;0.0376)	UPI0000160257	309					SNV	TMEM198,missense_variant,p.Asn309Ser,ENST00000344458,;TMEM198,missense_variant,p.Asn309Ser,ENST00000373883,NM_001005209.1;OBSL1,downstream_gene_variant,,ENST00000404537,NM_015311.2;OBSL1,downstream_gene_variant,,ENST00000265318,;OBSL1,downstream_gene_variant,,ENST00000373876,;TMEM198,downstream_gene_variant,,ENST00000421791,;TMEM198,downstream_gene_variant,,ENST00000451952,;MIR3132,upstream_gene_variant,,ENST00000581997,;RP11-256I23.1,upstream_gene_variant,,ENST00000596829,;OBSL1,downstream_gene_variant,,ENST00000465149,;OBSL1,downstream_gene_variant,,ENST00000489804,;OBSL1,downstream_gene_variant,,ENST00000462534,;OBSL1,downstream_gene_variant,,ENST00000596474,;	uc002vme.2	c.926A>G	1511/2393	3	3			c.926A>G						2	SNP	c.(925-927)AAT>AGT	58	58			ovary(1)	1	Broad	transmembrane protein 198			220414057		0.627	ENSG00000188760	15870	g.chr2:220414057A>G		integral to membrane								128.133875	KEEP	17	23	-1	31	35	17	23	-1	129.127615	31	35	0.391753	1	0	0	0	0	1	0	0	0	--	--		0	G			TMEM198_uc002vmf.2_Missense_Mutation_p.N309S|hsa-mir-3132|MI0014152_5'Flank	71	GBM-06-0875-TP	p.N309S	A	AAACGCTTCAATGGAGACGTC	NM_001005209	NP_001005209	220414057	Q66K66	TM198_HUMAN	0		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	5	1511	+	G	G		Renal(207;0.0376)	Missense_Mutation	309						
TMEM2	0	broad.mit.edu	GRCh37	9	74305126	74305126	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0875-01	TCGA-06-0875-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377044.4:c.3733G>A	p.Val1245Ile	p.V1245I	ENST00000377044	NM_013390.2	1245	Gtc/Atc	0			1			T	V/I	uc011lsa.1	protein_coding	YES	CCDS6638.1			3733/4152									ovary(2)	2	c.(3733-3735)GTC>ATC			hmmpanther:PTHR15535,hmmpanther:PTHR15535:SF17	transmembrane protein 2 isoform a				ENSP00000366243		22/24									COSM2152047	22/24	.		ENST00000377044	Transcript				integral to membrane		ENSG00000135048	g.chr9:74305126C>T	11869			MODERATE		-0.65	neutral	getma.org/?cm=msa&ty=f&p=TMEM2_HUMAN&rb=1046&re=1245&var=V1245I	NA	getma.org/?cm=var&var=hg19,9,74305126,C,T&fts=all	V1245I	--	--	1																																		TMEM2_uc011lrz.1_Missense_Mutation_p.V238I|TMEM2_uc010mos.2_Missense_Mutation_p.V1182I|TMEM2_uc011lsb.1_RNA|TMEM2_uc004aik.2_Missense_Mutation_p.V79I	1	1		benign(0.002)	p.V1245I	NM_013390	NP_037522		tolerated(1)	1	TMEM2_HUMAN	TMEM2	HGNC	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	F5H6B2_HUMAN,B4E1B9_HUMAN,B3KNL9_HUMAN		22	4273	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	UPI0000071E8D	1245					SNV	TMEM2,missense_variant,p.Val1245Ile,ENST00000377044,NM_013390.2,NM_001135820.1;TMEM2,missense_variant,p.Val1182Ile,ENST00000377066,;TMEM2,missense_variant,p.Val238Ile,ENST00000396272,;TMEM2,3_prime_UTR_variant,,ENST00000542935,;TMEM2,non_coding_transcript_exon_variant,,ENST00000377057,;TMEM2,upstream_gene_variant,,ENST00000538669,;	uc011lsa.1	c.3733G>A	4273/6523	1	1			c.3733G>A						9	SNP	c.(3733-3735)GTC>ATC	5	5			ovary(2)	2	Broad	transmembrane protein 2 isoform a			74305126		0.453	ENSG00000135048	15872	g.chr9:74305126C>T		integral to membrane								99.854457	KEEP	9	25	-1	37	33	9	25	-1	101.804275	37	33	0.347368	1	0	0	0	0	1	0	0	0	--	--		0	T			TMEM2_uc011lrz.1_Missense_Mutation_p.V238I|TMEM2_uc010mos.2_Missense_Mutation_p.V1182I|TMEM2_uc011lsb.1_RNA|TMEM2_uc004aik.2_Missense_Mutation_p.V79I	71	GBM-06-0875-TP	p.V1245I	C	AGGAGGAGGACGCCTGCACTT	NM_013390	NP_037522	74305126	Q9UHN6	TMEM2_HUMAN	0		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	22	4273	-	T	T		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	Missense_Mutation	1245						
TMEM2	0	broad.mit.edu	GRCh37	9	74345061	74345061	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01	TCGA-12-0615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377044.4:c.1882G>A	p.Gly628Ser	p.G628S	ENST00000377044	NM_013390.2	628	Ggt/Agt	0			1			T	G/S	uc011lsa.1	protein_coding	YES	CCDS6638.1			1882/4152									ovary(2)	2	c.(1882-1884)GGT>AGT			Low_complexity_(Seg):seg,hmmpanther:PTHR15535,hmmpanther:PTHR15535:SF17	transmembrane protein 2 isoform a				ENSP00000366243		24-Sep									COSM2153486	24-Sep	.		ENST00000377044	Transcript				integral to membrane		ENSG00000135048	g.chr9:74345061C>T	11869			MODERATE		1.63	low	getma.org/?cm=msa&ty=f&p=TMEM2_HUMAN&rb=446&re=645&var=G628S	NA	getma.org/?cm=var&var=hg19,9,74345061,C,T&fts=all	G628S	--	--	1																																		TMEM2_uc010mos.2_Missense_Mutation_p.G565S|TMEM2_uc011lsb.1_RNA	1	1		possibly_damaging(0.766)	p.G628S	NM_013390	NP_037522		tolerated(0.05)	1	TMEM2_HUMAN	TMEM2	HGNC	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	F5H6B2_HUMAN,B4E1B9_HUMAN,B3KNL9_HUMAN		9	2422	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	UPI0000071E8D	628					SNV	TMEM2,missense_variant,p.Gly628Ser,ENST00000377044,NM_013390.2,NM_001135820.1;TMEM2,missense_variant,p.Gly565Ser,ENST00000377066,;TMEM2,3_prime_UTR_variant,,ENST00000542935,;TMEM2,downstream_gene_variant,,ENST00000546219,;	uc011lsa.1	c.1882G>A	2422/6523	2	2			c.1882G>A						9	SNP	c.(1882-1884)GGT>AGT	29	29			ovary(2)	2	Broad	transmembrane protein 2 isoform a			74345061		0.458	ENSG00000135048	15872	g.chr9:74345061C>T		integral to membrane								254.823427	KEEP	40	55	-1	53	78	40	55	-1	256.385187	53	78	0.406863	1	0	0	0	0	1	0	0	0	--	--		0	T			TMEM2_uc010mos.2_Missense_Mutation_p.G565S|TMEM2_uc011lsb.1_RNA	117	GBM-12-0615-TP	p.G628S	C	AGGAGAGTACCCGGCTTGGTG	NM_013390	NP_037522	74345061	Q9UHN6	TMEM2_HUMAN	0		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	9	2422	-	T	T		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	Missense_Mutation	628						
TMEM2	0	broad.mit.edu	GRCh37	9	74324239	74324239	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs147272925	byFrequency;by1000genomes	TCGA-27-2521-01	TCGA-27-2521-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377044.4:c.2921G>A	p.Arg974His	p.R974H	ENST00000377044	NM_013390.2	974	cGc/cAc	0	T:0.005	T:0.003	1	T:0		T	R/H	uc011lsa.1	protein_coding	YES	CCDS6638.1			2921/4152									ovary(2)	2	c.(2920-2922)CGC>CAC			hmmpanther:PTHR15535,hmmpanther:PTHR15535:SF17	transmembrane protein 2 isoform a		T:0	T:0	ENSP00000366243	T:0	17/24	0.000609	0.00615	8.64E-05	0.000116		0.00012			rs147272925,COSM3413718	17/24	common_variant		ENST00000377044	Transcript		T:0.0008		integral to membrane		ENSG00000135048	g.chr9:74324239C>T	11869			MODERATE		2.52	medium	getma.org/?cm=msa&ty=f&p=TMEM2_HUMAN&rb=846&re=1045&var=R974H	NA	getma.org/?cm=var&var=hg19,9,74324239,C,T&fts=all	R974H	--	--	1																																		TMEM2_uc010mos.2_Missense_Mutation_p.R911H|TMEM2_uc011lsb.1_RNA	0,1	1		benign(0.055)	p.R974H	NM_013390	NP_037522	T:0	deleterious(0.03)	0,1	TMEM2_HUMAN	TMEM2	HGNC	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	F5H6B2_HUMAN,B4E1B9_HUMAN,B3KNL9_HUMAN		17	3461	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	UPI0000071E8D	974					SNV	TMEM2,missense_variant,p.Arg974His,ENST00000377044,NM_013390.2,NM_001135820.1;TMEM2,missense_variant,p.Arg911His,ENST00000377066,;TMEM2,missense_variant,p.Arg3His,ENST00000377055,;TMEM2,missense_variant,p.Arg75His,ENST00000377043,;TMEM2,upstream_gene_variant,,ENST00000396272,;TMEM2,3_prime_UTR_variant,,ENST00000542935,;TMEM2,non_coding_transcript_exon_variant,,ENST00000537329,;TMEM2,upstream_gene_variant,,ENST00000474495,;	uc011lsa.1	c.2921G>A	3461/6523	1	1			c.2921G>A						9	SNP	c.(2920-2922)CGC>CAC	7	7			ovary(2)	2	Broad	transmembrane protein 2 isoform a			74324239		0.448	ENSG00000135048	15872	g.chr9:74324239C>T		integral to membrane								190.696684	KEEP	32	32	-1	14	24	32	32	-1	192.247093	14	24	0.635417	1	0	0	0	0	1	0	0	0	--	--		0	T			TMEM2_uc010mos.2_Missense_Mutation_p.R911H|TMEM2_uc011lsb.1_RNA	200	GBM-27-2521-TP	p.R974H	C	GCTTGGATGGCGGATCAGGTA	NM_013390	NP_037522	74324239	Q9UHN6	TMEM2_HUMAN	0		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	17	3461	-	T	T		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	Missense_Mutation	974						
TMEM2			GRCh37	9	74319626	74319626	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000377044.4:c.3079C>T	p.Gln1027Ter	p.Q1027*	ENST00000377044	NM_013390.2	1027	Cag/Tag	0																																																																																																																																																																																																																																												
TMEM200A	114801	broad.mit.edu	GRCh37	6	130762663	130762663	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs140251464		TCGA-06-0879-01	TCGA-06-0879-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392429.1:c.1096G>A	p.Gly366Arg	p.G366R	ENST00000392429	NM_052913.2	366	Gga/Aga	0	A:0.0002	A:0	1	A:0		A	G/R	uc003qca.2	protein_coding		CCDS5140.1			1096/1476									ovary(1)	1	c.(1096-1098)GGA>AGA			hmmpanther:PTHR31815,hmmpanther:PTHR31815:SF0	transmembrane protein 200A		A:0	A:0	ENSP00000296978	A:0	3-Mar	8.24E-06						0.0011		rs140251464,COSM2152279,COSM2152278	3-Mar	.		ENST00000296978	Transcript		A:0.0002		integral to membrane		ENSG00000164484	g.chr6:130762663G>A	21075			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=T200A_HUMAN&rb=309&re=372&var=G366R	NA	getma.org/?cm=var&var=hg19,6,130762663,G,A&fts=all	G366R	--	--	1																																		TMEM200A_uc010kfh.2_Missense_Mutation_p.G366R|TMEM200A_uc010kfi.2_Missense_Mutation_p.G366R|TMEM200A_uc003qcb.2_Missense_Mutation_p.G366R	0,1,1			probably_damaging(0.999)	p.G366R	NM_052913	NP_443145	A:0.001	deleterious(0.03)	0,1,1	T200A_HUMAN	TMEM200A	HGNC	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	B4DG12_HUMAN,A8K2A1_HUMAN		3	1967	+			UPI000000DA85	366			Cytoplasmic (Potential).		SNV	TMEM200A,missense_variant,p.Gly366Arg,ENST00000392429,NM_052913.2;TMEM200A,missense_variant,p.Gly366Arg,ENST00000296978,NM_001258277.1,NM_001258276.1,NM_001258278.1;TMEM200A,missense_variant,p.Gly366Arg,ENST00000545622,;	uc003qca.2	c.1096G>A	1967/3512	2	2			c.1096G>A						6	SNP	c.(1096-1098)GGA>AGA	30	30			ovary(1)	1	Broad	transmembrane protein 200A			130762663		0.522	ENSG00000164484	15874	g.chr6:130762663G>A		integral to membrane			p.G366R(SKUT1-Tumor)	66		p.G366R(SKUT1-Tumor)	66	114.502993	KEEP	23	20	-1	39	40	23	20	-1	116.276177	39	40	0.359223	1	0	0	0	0	1	0	0	0	--	--		0	A			TMEM200A_uc010kfh.2_Missense_Mutation_p.G366R|TMEM200A_uc010kfi.2_Missense_Mutation_p.G366R|TMEM200A_uc003qcb.2_Missense_Mutation_p.G366R	75	GBM-06-0879-TP	p.G366R	G	TATGGCTCTCGGACCTGGGGC	NM_052913	NP_443145	130762663	Q86VY9	T200A_HUMAN	0		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	3	1967	+	A	A			Missense_Mutation	366			Cytoplasmic (Potential).			
TMEM200A	0	broad.mit.edu	GRCh37	6	130762228	130762228	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-41-2573-01	TCGA-41-2573-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296978.3:c.661C>T	p.Arg221Ter	p.R221*	ENST00000296978	NM_001258277.1	221	Cga/Tga	0	T:0		1			T	R/*	uc003qca.2	protein_coding		CCDS5140.1			661/1476						not_provided			ovary(1)	1	c.(661-663)CGA>TGA			hmmpanther:PTHR31815,hmmpanther:PTHR31815:SF0	transmembrane protein 200A			T:0.0001	ENSP00000296978		3-Mar									rs267600806,COSM1073210,COSM1073209	3-Mar	.		ENST00000296978	Transcript				integral to membrane		ENSG00000164484	g.chr6:130762228C>T	21075			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,6,130762228,C,T&fts=all	R221*	--	--	1																																		TMEM200A_uc010kfh.2_Nonsense_Mutation_p.R221*|TMEM200A_uc010kfi.2_Nonsense_Mutation_p.R221*|TMEM200A_uc003qcb.2_Nonsense_Mutation_p.R221*	1,1,1				p.R221*	NM_052913	NP_443145			0,1,1	T200A_HUMAN	TMEM200A	HGNC	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	B4DG12_HUMAN,A8K2A1_HUMAN		3	1532	+			UPI000000DA85	221			Cytoplasmic (Potential).		SNV	TMEM200A,stop_gained,p.Arg221Ter,ENST00000392429,NM_052913.2;TMEM200A,stop_gained,p.Arg221Ter,ENST00000296978,NM_001258277.1,NM_001258276.1,NM_001258278.1;TMEM200A,stop_gained,p.Arg221Ter,ENST00000545622,;	uc003qca.2	c.661C>T	1532/3512	5	1			c.661C>T						6	SNP	c.(661-663)CGA>TGA	4	4			ovary(1)	1	Broad	transmembrane protein 200A			130762228		0.478	ENSG00000164484	15874	g.chr6:130762228C>T		integral to membrane				66			66	55.482503	KEEP	9	13	-1	25	22	9	13	-1	57.763779	25	22	0.30303	1	0	0	0	0	0	1	0	0	--	--		0	T			TMEM200A_uc010kfh.2_Nonsense_Mutation_p.R221*|TMEM200A_uc010kfi.2_Nonsense_Mutation_p.R221*|TMEM200A_uc003qcb.2_Nonsense_Mutation_p.R221*	252	GBM-41-2573-TP	p.R221*	C	GAGCAGTTTTCGAATGGACAG	NM_052913	NP_443145	130762228	Q86VY9	T200A_HUMAN	0		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	3	1532	+	T	T			Nonsense_Mutation	221			Cytoplasmic (Potential).			
TMEM207	0	broad.mit.edu	GRCh37	3	190147491	190147491	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-15-0742-01	TCGA-15-0742-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354905.2:c.334G>C	p.Gly112Arg	p.G112R	ENST00000354905	NM_207316.1	112	Gga/Cga	0			1			G	G/R	uc003fsj.2	protein_coding	YES	CCDS3297.1			334/441										0	c.(334-336)GGA>CGA				transmembrane protein 207 precursor				ENSP00000346981		5-May									COSM3408521	5-May	.		ENST00000354905	Transcript				integral to membrane		ENSG00000198398	g.chr3:190147491C>G	33705			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=TM207_HUMAN&rb=1&re=145&var=G112R	NA	getma.org/?cm=var&var=hg19,3,190147491,C,G&fts=all	G112R	--	--	1																																			1	1		benign(0.399)	p.G112R	NM_207316	NP_997199		tolerated(0.26)	1	TM207_HUMAN	TMEM207	HGNC	Q6UWW9	TM207_HUMAN	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)			5	401	-	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		UPI0000048F12	112					SNV	TMEM207,missense_variant,p.Gly112Arg,ENST00000354905,NM_207316.1;	uc003fsj.2	c.334G>C	401/1448	3	3			c.334G>C						3	SNP	c.(334-336)GGA>CGA	55	55				0	Broad	transmembrane protein 207 precursor			190147491		0.428	ENSG00000198398	15882	g.chr3:190147491C>G		integral to membrane								264.744309	KEEP	54	44	-1	46	49	54	44	-1	264.749858	46	49	0.493671	1	0	0	0	0	1	0	0	0	--	--		0	G				153	GBM-15-0742-TP	p.G112R	C	AGGTGAATTCCAACAGTTGGA	NM_207316	NP_997199	190147491	Q6UWW9	TM207_HUMAN	0	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)	5	401	-	G	G	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Missense_Mutation	112						
TMEM208	0	broad.mit.edu	GRCh37	16	67261781	67261781	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-4210-01	TCGA-32-4210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304800.9:c.49G>C	p.Glu17Gln	p.E17Q	ENST00000304800	NM_014187.3	17	Gaa/Caa	0			1			C	E/Q	uc002esi.2	protein_coding	YES	CCDS45511.1			49/522										0	c.(49-51)GAA>CAA			Pfam_domain:PF05620,hmmpanther:PTHR13505,hmmpanther:PTHR13505:SF7	HSPC171 protein				ENSP00000305892		6-Feb									COSM3402413	6-Feb	.		ENST00000304800	Transcript				integral to membrane		ENSG00000168701	g.chr16:67261781G>C	25015			MODERATE		1.8	low	getma.org/?cm=msa&ty=f&p=TM208_HUMAN&rb=7&re=171&var=E17Q	NA	getma.org/?cm=var&var=hg19,16,67261781,G,C&fts=all	E17Q	--	--	1																																		LRRC29_uc002ese.2_5'Flank|LRRC29_uc002esf.2_5'Flank|LRRC29_uc002esg.2_5'Flank|LRRC29_uc010vjg.1_5'Flank|TMEM208_uc002esj.2_RNA	1	1		probably_damaging(0.961)	p.E17Q	NM_014187	NP_054906		deleterious(0.03)	1	TM208_HUMAN	TMEM208	HGNC	Q9BTX3	TM208_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	J3KRY7_HUMAN		2	155	+		Ovarian(137;0.0563)	UPI000006D32F	17					SNV	TMEM208,missense_variant,p.Glu17Gln,ENST00000565201,;TMEM208,missense_variant,p.Glu17Gln,ENST00000304800,NM_014187.3;TMEM208,5_prime_UTR_variant,,ENST00000563953,;FHOD1,downstream_gene_variant,,ENST00000258201,NM_013241.2;LRRC29,upstream_gene_variant,,ENST00000393992,NM_012163.2;LRRC29,upstream_gene_variant,,ENST00000409509,;LRRC29,upstream_gene_variant,,ENST00000341546,NM_001004055.1;LRRC29,upstream_gene_variant,,ENST00000447579,;LRRC29,upstream_gene_variant,,ENST00000433915,;LRRC29,upstream_gene_variant,,ENST00000424285,;AC040160.1,upstream_gene_variant,,ENST00000454102,;LRRC29,upstream_gene_variant,,ENST00000462169,;LRRC29,upstream_gene_variant,,ENST00000485549,;TMEM208,upstream_gene_variant,,ENST00000563426,;TMEM208,missense_variant,p.Glu17Gln,ENST00000562235,;TMEM208,3_prime_UTR_variant,,ENST00000564087,;TMEM208,non_coding_transcript_exon_variant,,ENST00000563168,;TMEM208,non_coding_transcript_exon_variant,,ENST00000567193,;TMEM208,non_coding_transcript_exon_variant,,ENST00000566486,;TMEM208,non_coding_transcript_exon_variant,,ENST00000561586,;FHOD1,downstream_gene_variant,,ENST00000567752,;FHOD1,downstream_gene_variant,,ENST00000569888,;FHOD1,downstream_gene_variant,,ENST00000567561,;FHOD1,downstream_gene_variant,,ENST00000569085,;FHOD1,downstream_gene_variant,,ENST00000566006,;TMEM208,upstream_gene_variant,,ENST00000563271,;FHOD1,downstream_gene_variant,,ENST00000567509,;TMEM208,upstream_gene_variant,,ENST00000564649,;	uc002esi.2	c.49G>C	155/793	3	3			c.49G>C						16	SNP	c.(49-51)GAA>CAA	6	6				0	Broad	HSPC171 protein			67261781		0.532	ENSG00000168701	15883	g.chr16:67261781G>C		integral to membrane								65.881609	KEEP	14	6	-1	8	5	14	6	-1	66.162922	8	5	0.607143	1	0	0	0	0	1	0	0	0	--	--		0	C			LRRC29_uc002ese.2_5'Flank|LRRC29_uc002esf.2_5'Flank|LRRC29_uc002esg.2_5'Flank|LRRC29_uc010vjg.1_5'Flank|TMEM208_uc002esj.2_RNA	245	GBM-32-4210-TP	p.E17Q	G	GCAGATATTTGAAGAGAACAG	NM_014187	NP_054906	67261781	Q9BTX3	TM208_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	2	155	+	C	C		Ovarian(137;0.0563)	Missense_Mutation	17						
TMEM209	0	broad.mit.edu	GRCh37	7	129843871	129843871	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-32-4213-01	TCGA-32-4213-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397622.2:c.83T>G	p.Val28Gly	p.V28G	ENST00000397622	NM_032842.3	28	gTg/gGg	0			1			C	V/G	uc003vpn.2	protein_coding	YES	CCDS47712.1			83/1686									ovary(2)|large_intestine(1)	3	c.(82-84)GTG>GGG			Pfam_domain:PF09786,hmmpanther:PTHR21780,hmmpanther:PTHR21780:SF0,Transmembrane_helices:TMhelix	transmembrane protein 209				ENSP00000380747		15-Feb									COSM3748353	15-Feb	.		ENST00000397622	Transcript				integral to membrane		ENSG00000146842	g.chr7:129843871A>C	21898			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=TM209_HUMAN&rb=7&re=561&var=V28G	NA	getma.org/?cm=var&var=hg19,7,129843871,A,C&fts=all	V28G	--	--	1																																		TMEM209_uc010lmc.1_Missense_Mutation_p.V28G|TMEM209_uc003vpo.2_Missense_Mutation_p.V28G	1	1		probably_damaging(0.999)	p.V28G	NM_032842	NP_116231		deleterious(0.01)	1	TM209_HUMAN	TMEM209	HGNC	Q96SK2	TM209_HUMAN			C9J5K4_HUMAN		2	206	-	Melanoma(18;0.0435)		UPI000020FAA2	28			Helical; (Potential).		SNV	TMEM209,missense_variant,p.Val28Gly,ENST00000397622,NM_032842.3;TMEM209,missense_variant,p.Val27Gly,ENST00000462753,;TMEM209,missense_variant,p.Val27Gly,ENST00000336804,;TMEM209,missense_variant,p.Val28Gly,ENST00000473456,;TMEM209,missense_variant,p.Val27Gly,ENST00000471077,;TMEM209,missense_variant,p.Val71Gly,ENST00000471985,;SSMEM1,upstream_gene_variant,,ENST00000297819,NM_145268.3;RP11-775D22.3,intron_variant,,ENST00000483283,;	uc003vpn.2	c.83T>G	206/3545	3	3			c.83T>G						7	SNP	c.(82-84)GTG>GGG	15	15			ovary(2)|large_intestine(1)	3	Broad	transmembrane protein 209			129843871		0.408	ENSG00000146842	15884	g.chr7:129843871A>C		integral to membrane								-0.067756	KEEP	3	0	-1	17	22	3	0	-1	6.578578	17	22	0.060606	1	0	0	0	0	1	0	0	0	--	--		0	C			TMEM209_uc010lmc.1_Missense_Mutation_p.V28G|TMEM209_uc003vpo.2_Missense_Mutation_p.V28G	247	GBM-32-4213-TP	p.V28G	A	GGCTAAGACCACTTTCCTAGC	NM_032842	NP_116231	129843871	Q96SK2	TM209_HUMAN	0			2	206	-	C	C	Melanoma(18;0.0435)		Missense_Mutation	28			Helical; (Potential).			
TMEM214	0	broad.mit.edu	GRCh37	2	27258019	27258019	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-19-2629-01	TCGA-19-2629-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000238788.9:c.368T>A	p.Leu123Gln	p.L123Q	ENST00000238788	NM_017727.4	123	cTg/cAg	0			1			A	L/Q	uc002ria.3	protein_coding	YES	CCDS42664.1			368/2070										0	c.(367-369)CTG>CAG			hmmpanther:PTHR13448	transmembrane protein 214 isoform 1				ENSP00000238788		17-Mar									COSM2156305	17-Mar	.		ENST00000238788	Transcript				integral to membrane	protein binding	ENSG00000119777	g.chr2:27258019T>A	25983			MODERATE		2.005	medium	getma.org/?cm=msa&ty=f&p=TM214_HUMAN&rb=1&re=200&var=L123Q	NA	getma.org/?cm=var&var=hg19,2,27258019,T,A&fts=all	L123Q	--	--	1																																		TMEM214_uc010yle.1_RNA|TMEM214_uc002rib.3_Missense_Mutation_p.L123Q	1	1		possibly_damaging(0.902)	p.L123Q	NM_017727	NP_060197		deleterious(0)	1	TM214_HUMAN	TMEM214	HGNC	Q6NUQ4	TM214_HUMAN			B2RD07_HUMAN		3	478	+			UPI00003FF926	123					SNV	TMEM214,missense_variant,p.Leu123Gln,ENST00000238788,NM_017727.4;TMEM214,missense_variant,p.Leu123Gln,ENST00000404032,NM_001083590.1;TMEM214,upstream_gene_variant,,ENST00000444135,;TMEM214,upstream_gene_variant,,ENST00000425720,;TMEM214,missense_variant,p.Leu123Gln,ENST00000321326,;TMEM214,non_coding_transcript_exon_variant,,ENST00000495312,;TMEM214,upstream_gene_variant,,ENST00000460665,;TMEM214,upstream_gene_variant,,ENST00000435172,;TMEM214,upstream_gene_variant,,ENST00000475258,;TMEM214,upstream_gene_variant,,ENST00000469445,;TMEM214,upstream_gene_variant,,ENST00000434544,;TMEM214,downstream_gene_variant,,ENST00000478980,;TMEM214,upstream_gene_variant,,ENST00000460904,;	uc002ria.3	c.368T>A	430/2990	2	2			c.368T>A						2	SNP	c.(367-369)CTG>CAG	48	48				0	Broad	transmembrane protein 214 isoform 1			27258019		0.537	ENSG00000119777	15887	g.chr2:27258019T>A		integral to membrane	protein binding							114.60052	KEEP	25	16	-1	16	23	25	16	-1	114.603619	16	23	0.507042	1	0	0	0	0	1	0	0	0	--	--		0	A			TMEM214_uc010yle.1_RNA|TMEM214_uc002rib.3_Missense_Mutation_p.L123Q	166	GBM-19-2629-TP	p.L123Q	T	GTGGCAGACCTGCAGAAGGAA	NM_017727	NP_060197	27258019	Q6NUQ4	TM214_HUMAN	0			3	478	+	A	A			Missense_Mutation	123						
TMEM214	0	broad.mit.edu	GRCh37	2	27263616	27263616	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-41-2575-01	TCGA-41-2575-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000238788.9:c.1981A>T	p.Ser661Cys	p.S661C	ENST00000238788	NM_017727.4	661	Agt/Tgt	0			1			T	S/C	uc002ria.3	protein_coding	YES	CCDS42664.1			1981/2070										0	c.(1981-1983)AGT>TGT			hmmpanther:PTHR13448,Pfam_domain:PF10151	transmembrane protein 214 isoform 1				ENSP00000238788		17/17									COSM3407783	17/17	.		ENST00000238788	Transcript				integral to membrane	protein binding	ENSG00000119777	g.chr2:27263616A>T	25983			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=TM214_HUMAN&rb=217&re=685&var=S661C	NA	getma.org/?cm=var&var=hg19,2,27263616,A,T&fts=all	S661C	--	--	1																																		TMEM214_uc010yle.1_RNA|TMEM214_uc002rib.3_Missense_Mutation_p.S616C	1	1		probably_damaging(0.993)	p.S661C	NM_017727	NP_060197		tolerated(0.12)	1	TM214_HUMAN	TMEM214	HGNC	Q6NUQ4	TM214_HUMAN			B2RD07_HUMAN		17	2091	+			UPI00003FF926	661					SNV	TMEM214,missense_variant,p.Ser661Cys,ENST00000238788,NM_017727.4;TMEM214,missense_variant,p.Ser616Cys,ENST00000404032,NM_001083590.1;TMEM214,downstream_gene_variant,,ENST00000444135,;TMEM214,downstream_gene_variant,,ENST00000425720,;AGBL5,upstream_gene_variant,,ENST00000421915,;TMEM214,missense_variant,p.Ser661Cys,ENST00000321326,;TMEM214,3_prime_UTR_variant,,ENST00000434544,;TMEM214,non_coding_transcript_exon_variant,,ENST00000460665,;TMEM214,non_coding_transcript_exon_variant,,ENST00000469445,;TMEM214,downstream_gene_variant,,ENST00000435172,;TMEM214,downstream_gene_variant,,ENST00000475258,;TMEM214,downstream_gene_variant,,ENST00000460904,;	uc002ria.3	c.1981A>T	2043/2990	2	2			c.1981A>T						2	SNP	c.(1981-1983)AGT>TGT	28	28				0	Broad	transmembrane protein 214 isoform 1			27263616		0.532	ENSG00000119777	15887	g.chr2:27263616A>T		integral to membrane	protein binding							119.515677	KEEP	24	16	-1	43	36	24	16	-1	122.194831	43	36	0.336283	1	0	0	0	0	1	0	0	0	--	--		0	T			TMEM214_uc010yle.1_RNA|TMEM214_uc002rib.3_Missense_Mutation_p.S616C	253	GBM-41-2575-TP	p.S661C	A	GACACAGCTCAGTGAGGCTGT	NM_017727	NP_060197	27263616	Q6NUQ4	TM214_HUMAN	0			17	2091	+	T	T			Missense_Mutation	661						
TMEM215	0	broad.mit.edu	GRCh37	9	32784817	32784817	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342743.5:c.636C>T	p.Asn212=	p.N212=	ENST00000342743	NM_212558.2	212	aaC/aaT	0			1			T	N	uc003zri.3	protein_coding	YES	CCDS6530.1			636/708										0	c.(634-636)AAC>AAT			hmmpanther:PTHR31922	transmembrane protein 215				ENSP00000345468		2-Feb									COSM3413600	2-Feb	.		ENST00000342743	Transcript				integral to membrane		ENSG00000188133	g.chr9:32784817C>T	33816			LOW								--	--	1																																			1	1			p.N212N	NM_212558	NP_997723			1	TM215_HUMAN	TMEM215	HGNC	Q68D42	TM215_HUMAN					2	1001	+			UPI0000049371	212					SNV	TMEM215,synonymous_variant,p.=,ENST00000342743,NM_212558.2;	uc003zri.3	c.636C>T	1001/3581	2	2			c.636C>T						9	SNP	c.(634-636)AAC>AAT	25	25				0	Broad	transmembrane protein 215			32784817		0.493	ENSG00000188133	15888	g.chr9:32784817C>T		integral to membrane								216.816765	KEEP	48	46	-1	78	85	48	46	-1	220.397094	78	85	0.366812	1	0	0	0	0	0	0	1	0	--	--		0	T				131	GBM-12-5301-TP	p.N212N	C	ACAAGCAGAACAGCCCGTATG	NM_212558	NP_997723	32784817	Q68D42	TM215_HUMAN	0			2	1001	+	T	T			Silent	212						
TMEM219	0	broad.mit.edu	GRCh37	16	29979390	29979390	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-1970-01	TCGA-32-1970-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000279396.6:c.400A>G	p.Thr134Ala	p.T134A	ENST00000279396	NM_001083613.1	134	Aca/Gca	0			1			G	T/A	uc002duw.2	protein_coding		CCDS42145.1			400/723										0	c.(400-402)ACA>GCA			hmmpanther:PTHR16002,hmmpanther:PTHR16002:SF2,Pfam_domain:PF14940	transmembrane protein 219				ENSP00000279396		6-Apr									COSM3402261	6-Apr	.		ENST00000279396	Transcript				integral to membrane		ENSG00000149932	g.chr16:29979390A>G	25201			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=TM219_HUMAN&rb=1&re=238&var=T134A	NA	getma.org/?cm=var&var=hg19,16,29979390,A,G&fts=all	T134A	--	--	1																																		uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TMEM219_uc002duy.2_Missense_Mutation_p.T134A|TMEM219_uc010bzk.1_Missense_Mutation_p.T134A|TMEM219_uc002duz.2_Missense_Mutation_p.T134A|TMEM219_uc010bzl.1_RNA	1			benign(0.002)	p.T134A	NM_194280	NP_919256		tolerated(0.28)	1	TM219_HUMAN	TMEM219	HGNC	Q86XT9	TM219_HUMAN			R4GNJ4_HUMAN		4	567	+			UPI000004F67E	134					SNV	TMEM219,missense_variant,p.Thr134Ala,ENST00000566848,;TMEM219,missense_variant,p.Thr134Ala,ENST00000561899,;TMEM219,missense_variant,p.Thr134Ala,ENST00000414689,;TMEM219,missense_variant,p.Thr134Ala,ENST00000279396,NM_001083613.1,NM_194280.3;TMEM219,missense_variant,p.Thr79Ala,ENST00000569445,;TMEM219,missense_variant,p.Thr134Ala,ENST00000575829,;TMEM219,missense_variant,p.Thr134Ala,ENST00000602948,;TMEM219,intron_variant,,ENST00000569481,;TMEM219,missense_variant,p.Thr125Ala,ENST00000570255,;	uc002duw.2	c.400A>G	540/999	4	4			c.400A>G						16	SNP	c.(400-402)ACA>GCA	26	26				0	Broad	transmembrane protein 219			29979390		0.527	ENSG00000149932	15892	g.chr16:29979390A>G		integral to membrane								93.763173	KEEP	33	22	-1	128	117	33	22	-1	120.493891	128	117	0.182143	1	0	0	0	0	1	0	0	0	--	--		0	G			uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TMEM219_uc002duy.2_Missense_Mutation_p.T134A|TMEM219_uc010bzk.1_Missense_Mutation_p.T134A|TMEM219_uc002duz.2_Missense_Mutation_p.T134A|TMEM219_uc010bzl.1_RNA	228	GBM-32-1970-TP	p.T134A	A	CAGGGTGACCACAGAAAGGAC	NM_194280	NP_919256	29979390	Q86XT9	TM219_HUMAN	0			4	567	+	G	G			Missense_Mutation	134						
TMEM220	388335	broad.mit.edu	GRCh37	17	10628403	10628403	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0216-01	TCGA-06-0216-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341871.3:c.212C>T	p.Thr71Met	p.T71M	ENST00000341871	NM_001004313.1	71	aCg/aTg	0		A:0	1	A:0		A	T/M	uc002gmx.2	protein_coding	YES	CCDS32567.1			212/483										0	c.(211-213)ACG>ATG			Transmembrane_helices:TMhelix,Pfam_domain:PF15071	transmembrane protein 220		A:0.001		ENSP00000339830	A:0	6-Apr	2.47E-05			0.000116		3.00E-05			rs201706506,COSM1128827	6-Apr	.		ENST00000341871	Transcript		A:0.0002		integral to membrane		ENSG00000187824	g.chr17:10628403G>A	33757			MODERATE		0.205	neutral	getma.org/?cm=msa&ty=f&p=TM220_HUMAN&rb=1&re=159&var=T71M	NA	getma.org/?cm=var&var=hg19,17,10628403,G,A&fts=all	T71M	--	--	1																																		TMEM220_uc002gmy.2_Missense_Mutation_p.T61M	0,1	1		benign(0.002)	p.T71M	NM_001004313	NP_001004313	A:0	tolerated(0.13)	0,1	TM220_HUMAN	TMEM220	HGNC	Q6QAJ8	TM220_HUMAN					4	690	-			UPI00001D79BC	71			Helical; (Potential).		SNV	TMEM220,missense_variant,p.Thr71Met,ENST00000341871,NM_001004313.1;TMEM220,missense_variant,p.Thr61Met,ENST00000455996,;TMEM220,missense_variant,p.Thr61Met,ENST00000578345,;TMEM220,missense_variant,p.Thr17Met,ENST00000580787,;TMEM220,missense_variant,p.Thr12Met,ENST00000581949,;CTC-297N7.5,upstream_gene_variant,,ENST00000583343,;CTC-297N7.5,upstream_gene_variant,,ENST00000583012,;CTC-297N7.5,upstream_gene_variant,,ENST00000579114,;CTC-297N7.5,upstream_gene_variant,,ENST00000581366,;CTC-297N7.5,upstream_gene_variant,,ENST00000580899,;CTC-297N7.5,upstream_gene_variant,,ENST00000584714,;CTC-297N7.5,upstream_gene_variant,,ENST00000583115,;TMEM220,non_coding_transcript_exon_variant,,ENST00000580186,;	uc002gmx.2	c.212C>T	677/3106	2	2			c.212C>T						17	SNP	c.(211-213)ACG>ATG	22	22				0	Broad	transmembrane protein 220			10628403		0.448	ENSG00000187824	15894	g.chr17:10628403G>A		integral to membrane								-16.485333	KEEP	2	2	-1	64	41	2	2	-1	6.33257	64	41	0.04	1	0	0	0	0	1	0	0	0	--	--		0	A			TMEM220_uc002gmy.2_Missense_Mutation_p.T61M	51	GBM-06-0216-TP	p.T71M	G	AGCCCACACCGTACAAAAGAG	NM_001004313	NP_001004313	10628403	Q6QAJ8	TM220_HUMAN	0			4	690	-	A	A			Missense_Mutation	71			Helical; (Potential).			
TMEM229A	730130		GRCh37	7	123672457	123672462	+	inframe_deletion	In_Frame_Del	DEL	GCTGCT	GCTGCT	-			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000455783.1:c.596_601del	p.Gln199_Gln200del	p.Q199_Q200del	ENST00000455783	NM_001136002.1	199	cAGCAGCgg/cgg	0																																																																																																																																																																																																																																												
TMEM229B	161145	broad.mit.edu	GRCh37	14	67940502	67940502	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01	TCGA-06-5413-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357461.2:c.139G>A	p.Val47Met	p.V47M	ENST00000357461	NM_182526.2	47	Gtg/Atg	0			1			T	V/M	uc001xjk.2	protein_coding	YES	CCDS9783.1			139/504									central_nervous_system(1)	1	c.(139-141)GTG>ATG			Transmembrane_helices:TMhelix,hmmpanther:PTHR31746,Pfam_domain:PF06541	transmembrane protein 229B				ENSP00000350050		3-Mar									COSM3401421	3-Mar	.		ENST00000357461	Transcript				integral to membrane		ENSG00000198133	g.chr14:67940502C>T	20130			MODERATE		2.075	medium	getma.org/?cm=msa&ty=f&p=T229B_HUMAN&rb=11&re=147&var=V47M	NA	getma.org/?cm=var&var=hg19,14,67940502,C,T&fts=all	V47M	--	--	1																																		TMEM229B_uc001xjj.1_RNA	1	1		probably_damaging(0.968)	p.V47M	NM_182526	NP_872332		tolerated(0.07)	1	T229B_HUMAN	TMEM229B	HGNC	Q8NBD8	T229B_HUMAN			G3V5K9_HUMAN,G3V528_HUMAN,G3V4W3_HUMAN,G3V2T8_HUMAN		3	549	-			UPI000006FC83	47			Helical; (Potential).		SNV	TMEM229B,missense_variant,p.Val47Met,ENST00000357461,NM_182526.2;TMEM229B,missense_variant,p.Val47Met,ENST00000557006,;TMEM229B,missense_variant,p.Val47Met,ENST00000557779,;TMEM229B,missense_variant,p.Val47Met,ENST00000554278,;TMEM229B,missense_variant,p.Val47Met,ENST00000554480,;TMEM229B,missense_variant,p.Val47Met,ENST00000555994,;TMEM229B,missense_variant,p.Val47Met,ENST00000555638,;	uc001xjk.2	c.139G>A	549/4068	2	2			c.139G>A						14	SNP	c.(139-141)GTG>ATG	45	45			central_nervous_system(1)	1	Broad	transmembrane protein 229B			67940502		0.617	ENSG00000198133	15898	g.chr14:67940502C>T		integral to membrane								-3.312979	KEEP	1	2	-1	33	26	1	2	-1	6.532991	33	26	0.061224	1	0	0	0	0	1	0	0	0	--	--		0	T			TMEM229B_uc001xjj.1_RNA	96	GBM-06-5413-TP	p.V47M	C	AGGGCCCACACGCTCGTGACC	NM_182526	NP_872332	67940502	Q8NBD8	T229B_HUMAN	0			3	549	-	T	T			Missense_Mutation	47			Helical; (Potential).			
TMEM229B	0	broad.mit.edu	GRCh37	14	67940157	67940157	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01	TCGA-19-5950-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357461.2:c.484G>A	p.Gly162Ser	p.G162S	ENST00000357461	NM_182526.2	162	Ggc/Agc	0			1			T	G/S	uc001xjk.2	protein_coding	YES	CCDS9783.1			484/504									central_nervous_system(1)	1	c.(484-486)GGC>AGC				transmembrane protein 229B				ENSP00000350050		3-Mar									COSM2156541	3-Mar	.		ENST00000357461	Transcript				integral to membrane		ENSG00000198133	g.chr14:67940157C>T	20130			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=T229B_HUMAN&rb=118&re=167&var=G162S	NA	getma.org/?cm=var&var=hg19,14,67940157,C,T&fts=all	G162S	--	--	1																																		TMEM229B_uc001xjj.1_RNA	1	1		probably_damaging(0.997)	p.G162S	NM_182526	NP_872332		tolerated_low_confidence(0.05)	1	T229B_HUMAN	TMEM229B	HGNC	Q8NBD8	T229B_HUMAN			G3V5K9_HUMAN,G3V528_HUMAN,G3V4W3_HUMAN,G3V2T8_HUMAN		3	894	-			UPI000006FC83	162			Cytoplasmic (Potential).		SNV	TMEM229B,missense_variant,p.Gly162Ser,ENST00000357461,NM_182526.2;TMEM229B,missense_variant,p.Gly162Ser,ENST00000557006,;TMEM229B,downstream_gene_variant,,ENST00000557779,;TMEM229B,downstream_gene_variant,,ENST00000554278,;TMEM229B,downstream_gene_variant,,ENST00000554480,;TMEM229B,downstream_gene_variant,,ENST00000555994,;TMEM229B,missense_variant,p.Gly162Ser,ENST00000555638,;	uc001xjk.2	c.484G>A	894/4068	1	1			c.484G>A						14	SNP	c.(484-486)GGC>AGC	13	13			central_nervous_system(1)	1	Broad	transmembrane protein 229B			67940157		0.632	ENSG00000198133	15898	g.chr14:67940157C>T		integral to membrane								76.837336	KEEP	17	15	-1	38	37	17	15	-1	80.777882	38	37	0.284211	1	0	0	0	0	1	0	0	0	--	--		0	T			TMEM229B_uc001xjj.1_RNA	170	GBM-19-5950-TP	p.G162S	C	TTGACATGGCCGTTGGCCAGG	NM_182526	NP_872332	67940157	Q8NBD8	T229B_HUMAN	0			3	894	-	T	T			Missense_Mutation	162			Cytoplasmic (Potential).			
TMEM229B	161145		GRCh37	14	67940183	67940183	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000357461.2:c.458C>T	p.Pro153Leu	p.P153L	ENST00000357461	NM_182526.2	153	cCc/cTc	0																																																																																																																																																																																																																																												
TMEM241	85019	broad.mit.edu	GRCh37	18	20979531	20979531	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0648-01	TCGA-06-0648-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000383233.3:c.278T>A	p.Leu93Gln	p.L93Q	ENST00000383233	NM_032933.4	93	cTg/cAg	0			1			T	L/Q	uc002kuf.2	protein_coding	YES	CCDS11876.2			278/891										0	c.(277-279)CTG>CAG			hmmpanther:PTHR11132:SF29,hmmpanther:PTHR11132	hypothetical protein LOC85019				ENSP00000372720		15-Apr									COSM3403466,COSM3403467	15-Apr	.		ENST00000383233	Transcript				integral to membrane		ENSG00000134490	g.chr18:20979531A>T	31723			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=TM241_HUMAN&rb=1&re=200&var=L93Q	NA	getma.org/?cm=var&var=hg19,18,20979531,A,T&fts=all	L93Q	--	--	1																																		C18orf45_uc010xaq.1_Intron|C18orf45_uc010xar.1_RNA|C18orf45_uc002kug.2_RNA|C18orf45_uc002kuh.2_RNA	1,1	1		probably_damaging(0.998)	p.L93Q	NM_032933	NP_116322		deleterious(0.02)	1,1	TM241_HUMAN	TMEM241	HGNC	Q24JQ0	CR045_HUMAN					4	387	-	all_cancers(21;0.000238)|all_epithelial(16;5.29e-06)|Lung NSC(20;0.00925)|Colorectal(14;0.0202)|all_lung(20;0.0255)|Ovarian(20;0.127)		UPI000022A6E0	93			Helical; (Potential).		SNV	TMEM241,missense_variant,p.Leu93Gln,ENST00000383233,NM_032933.4;TMEM241,missense_variant,p.Leu93Gln,ENST00000542162,;TMEM241,missense_variant,p.Leu93Gln,ENST00000578520,;TMEM241,missense_variant,p.Leu93Gln,ENST00000582336,;TMEM241,missense_variant,p.Leu67Gln,ENST00000399707,;TMEM241,intron_variant,,ENST00000450466,;TMEM241,missense_variant,p.Leu93Gln,ENST00000473688,;TMEM241,missense_variant,p.Leu67Gln,ENST00000477053,;TMEM241,splice_region_variant,p.=,ENST00000482411,;TMEM241,splice_region_variant,p.=,ENST00000577531,;TMEM241,intron_variant,,ENST00000581444,;TMEM241,intron_variant,,ENST00000460322,;TMEM241,intron_variant,,ENST00000497608,;TMEM241,intron_variant,,ENST00000580025,;	uc002kuf.2	c.278T>A	331/2934	2	2			c.278T>A						18	SNP	c.(277-279)CTG>CAG	30	30				0	Broad	hypothetical protein LOC85019			20979531		0.443	ENSG00000134490	1861	g.chr18:20979531A>T		integral to membrane								11.853529	KEEP	5	4	-1	30	30	5	4	-1	19.929416	30	30	0.131148	1	0	0	0	0	1	0	0	0	--	--		0	T			C18orf45_uc010xaq.1_Intron|C18orf45_uc010xar.1_RNA|C18orf45_uc002kug.2_RNA|C18orf45_uc002kuh.2_RNA	61	GBM-06-0648-TP	p.L93Q	A	AATACTTACCAGTCTGGACAA	NM_032933	NP_116322	20979531	Q24JQ0	CR045_HUMAN	0			4	387	-	T	T	all_cancers(21;0.000238)|all_epithelial(16;5.29e-06)|Lung NSC(20;0.00925)|Colorectal(14;0.0202)|all_lung(20;0.0255)|Ovarian(20;0.127)		Missense_Mutation	93			Helical; (Potential).			
TMEM241	0	broad.mit.edu	GRCh37	18	20889650	20889650	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2624-01	TCGA-19-2624-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000383233.3:c.824C>T	p.Thr275Met	p.T275M	ENST00000383233	NM_032933.4	275	aCg/aTg	0			1			A	T/M	uc002kuf.2	protein_coding	YES	CCDS11876.2			824/891										0	c.(823-825)ACG>ATG			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	hypothetical protein LOC85019				ENSP00000372720		14/15	0.000174		0.00121		0.000151	1.50E-05		0.000303	rs778244273,COSM2156259	14/15	common_variant		ENST00000383233	Transcript				integral to membrane		ENSG00000134490	g.chr18:20889650G>A	31723			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=TM241_HUMAN&rb=201&re=296&var=T275M	NA	getma.org/?cm=var&var=hg19,18,20889650,G,A&fts=all	T275M	--	--	1																																		C18orf45_uc010xaq.1_RNA|C18orf45_uc010xar.1_RNA|C18orf45_uc002kug.2_RNA|C18orf45_uc002kuh.2_RNA|C18orf45_uc002kue.2_RNA	0,1	1		benign(0.002)	p.T275M	NM_032933	NP_116322		tolerated(0.11)	0,1	TM241_HUMAN	TMEM241	HGNC	Q24JQ0	CR045_HUMAN					14	933	-	all_cancers(21;0.000238)|all_epithelial(16;5.29e-06)|Lung NSC(20;0.00925)|Colorectal(14;0.0202)|all_lung(20;0.0255)|Ovarian(20;0.127)		UPI000022A6E0	275			Helical; (Potential).		SNV	TMEM241,missense_variant,p.Thr275Met,ENST00000383233,NM_032933.4;TMEM241,missense_variant,p.Thr154Met,ENST00000450466,;TMEM241,3_prime_UTR_variant,,ENST00000542162,;TMEM241,non_coding_transcript_exon_variant,,ENST00000475185,;TMEM241,non_coding_transcript_exon_variant,,ENST00000578790,;TMEM241,non_coding_transcript_exon_variant,,ENST00000577448,;TMEM241,3_prime_UTR_variant,,ENST00000473688,;TMEM241,3_prime_UTR_variant,,ENST00000477053,;TMEM241,3_prime_UTR_variant,,ENST00000581444,;TMEM241,3_prime_UTR_variant,,ENST00000460322,;TMEM241,non_coding_transcript_exon_variant,,ENST00000583048,;	uc002kuf.2	c.824C>T	877/2934	1	1			c.824C>T						18	SNP	c.(823-825)ACG>ATG	64	64				0	Broad	hypothetical protein LOC85019			20889650		0.403	ENSG00000134490	1861	g.chr18:20889650G>A		integral to membrane								151.879236	KEEP	31	28	-1	54	58	31	28	-1	155.154277	54	58	0.342282	1	0	0	0	0	1	0	0	0	--	--		0	A			C18orf45_uc010xaq.1_RNA|C18orf45_uc010xar.1_RNA|C18orf45_uc002kug.2_RNA|C18orf45_uc002kuh.2_RNA|C18orf45_uc002kue.2_RNA	164	GBM-19-2624-TP	p.T275M	G	TTACCATCCCGTGGTTGCACT	NM_032933	NP_116322	20889650	Q24JQ0	CR045_HUMAN	0			14	933	-	A	A	all_cancers(21;0.000238)|all_epithelial(16;5.29e-06)|Lung NSC(20;0.00925)|Colorectal(14;0.0202)|all_lung(20;0.0255)|Ovarian(20;0.127)		Missense_Mutation	275			Helical; (Potential).			
TMEM245	23731		GRCh37	9	111822726	111822726	+	stop_gained	Nonsense_Mutation	SNP	T	T	A			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000374586.3:c.1630A>T	p.Lys544Ter	p.K544*	ENST00000374586	NM_032012.3	544	Aaa/Taa	0																																																																																																																																																																																																																																												
TMEM246	84302	broad.mit.edu	GRCh37	9	104238682	104238682	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0648-01	TCGA-06-0648-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374851.1:c.693C>T	p.Arg231=	p.R231=	ENST00000374851		231	cgC/cgT	0			1			A	R	uc004bbm.2	protein_coding		CCDS6757.1			693/1212										0	c.(691-693)CGC>CGT			hmmpanther:PTHR31410,hmmpanther:PTHR31410:SF1	hypothetical protein LOC84302				ENSP00000363980		3-Mar									COSM2151390	3-Mar	.		ENST00000374847	Transcript				integral to membrane		ENSG00000165152	g.chr9:104238682G>A	28180			LOW								--	--	1																																		uc004bbl.1_5'Flank	1				p.R231R	NM_032342	NP_115718			1	TM246_HUMAN	TMEM246	HGNC	Q9BRR3	CI125_HUMAN					2	1015	-		Acute lymphoblastic leukemia(62;0.0527)	UPI000006D08E	231					SNV	TMEM246,synonymous_variant,p.=,ENST00000374851,;TMEM246,synonymous_variant,p.=,ENST00000374848,NM_032342.1;TMEM246,synonymous_variant,p.=,ENST00000374847,;RP11-490D19.6,intron_variant,,ENST00000450109,;RP11-490D19.6,intron_variant,,ENST00000425734,;RP11-490D19.6,intron_variant,,ENST00000431507,;RP11-490D19.6,intron_variant,,ENST00000424154,;	uc004bbm.2	c.693C>T	994/4223	2	2			c.693C>T						9	SNP	c.(691-693)CGC>CGT	41	41				0	Broad	hypothetical protein LOC84302			104238682		0.542	ENSG00000165152	2406	g.chr9:104238682G>A		integral to membrane								131.241247	KEEP	24	23	-1	46	36	24	23	-1	132.700044	46	36	0.381356	1	0	0	0	0	0	0	1	0	--	--		0	A			uc004bbl.1_5'Flank	61	GBM-06-0648-TP	p.R231R	G	GCTCAGAGAAGCGAGCCCGCA	NM_032342	NP_115718	104238682	Q9BRR3	CI125_HUMAN	0			2	1015	-	A	A		Acute lymphoblastic leukemia(62;0.0527)	Silent	231						
TMEM246	0	broad.mit.edu	GRCh37	9	104239089	104239089	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-1823-01	TCGA-14-1823-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374847.1:c.286G>T	p.Ala96Ser	p.A96S	ENST00000374847		96	Gcc/Tcc	0			1			A	A/S	uc004bbm.2	protein_coding		CCDS6757.1			286/1212										0	c.(286-288)GCC>TCC			hmmpanther:PTHR31410,hmmpanther:PTHR31410:SF1	hypothetical protein LOC84302				ENSP00000363980		3-Mar									COSM3413202	3-Mar	.		ENST00000374847	Transcript				integral to membrane		ENSG00000165152	g.chr9:104239089C>A	28180			MODERATE		-0.69	neutral	getma.org/?cm=msa&ty=f&p=TM246_HUMAN&rb=1&re=200&var=A96S	NA	getma.org/?cm=var&var=hg19,9,104239089,C,A&fts=all	A96S	--	--	1																																		uc004bbl.1_5'Flank	1			benign(0.004)	p.A96S	NM_032342	NP_115718		tolerated(0.78)	1	TM246_HUMAN	TMEM246	HGNC	Q9BRR3	CI125_HUMAN					2	608	-		Acute lymphoblastic leukemia(62;0.0527)	UPI000006D08E	96					SNV	TMEM246,missense_variant,p.Ala96Ser,ENST00000374851,;TMEM246,missense_variant,p.Ala96Ser,ENST00000374848,NM_032342.1;TMEM246,missense_variant,p.Ala96Ser,ENST00000374847,;RP11-490D19.6,intron_variant,,ENST00000450109,;RP11-490D19.6,intron_variant,,ENST00000425734,;RP11-490D19.6,intron_variant,,ENST00000431507,;RP11-490D19.6,intron_variant,,ENST00000424154,;	uc004bbm.2	c.286G>T	587/4223	2	2			c.286G>T						9	SNP	c.(286-288)GCC>TCC	29	29				0	Broad	hypothetical protein LOC84302			104239089		0.592	ENSG00000165152	2406	g.chr9:104239089C>A		integral to membrane								5.782766	KEEP	3	8	0.727272727	49	24	3	8	0.727272727	14.953867	49	24	0.112903	1	0	0	0	0	1	0	0	0	--	--		0	A			uc004bbl.1_5'Flank	147	GBM-14-1823-TP	p.A96S	C	CGGGGGGTGGCCTGCCAGACA	NM_032342	NP_115718	104239089	Q9BRR3	CI125_HUMAN	0			2	608	-	A	A		Acute lymphoblastic leukemia(62;0.0527)	Missense_Mutation	96						
TMEM25	84866		GRCh37	11	118403822	118403822	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000313236.5:c.573C>T	p.Thr191=	p.T191=	ENST00000313236	NM_032780.3	191	acC/acT	0																																																																																																																																																																																																																																												
LYSET	0	broad.mit.edu	GRCh37	14	93651787	93651787	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-27-1835-01	TCGA-27-1835-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000415050.2:c.55T>A	p.Ser19Thr	p.S19T	ENST00000415050	NM_001098621.1	19	Tct/Act	0			1			A	S/T	uc010auo.2	protein_coding	YES	CCDS45158.1			55/510										0	c.(55-57)TCT>ACT			hmmpanther:PTHR31925,hmmpanther:PTHR31925:SF1	hypothetical protein LOC26175 isoform 1				ENSP00000388431		2-Jan									COSM3401528	2-Jan	.		ENST00000415050	Transcript				integral to membrane		ENSG00000153485	g.chr14:93651787T>A	20218			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=CN109_HUMAN&rb=1&re=161&var=S13T	NA	getma.org/?cm=var&var=hg19,14,93651787,T,A&fts=all	S13T	--	--	1																																		MOAP1_uc001ybj.2_5'Flank|C14orf109_uc001ybk.3_Intron	1	1		benign(0.04)	p.S19T	NM_001098621	NP_001092091		tolerated_low_confidence(0.36)	1	TM251_HUMAN	TMEM251	HGNC	Q8N6I4	CN109_HUMAN		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)			1	413	+		all_cancers(154;0.11)|Acute lymphoblastic leukemia(33;0.0488)	UPI00001C1F72	13					SNV	TMEM251,missense_variant,p.Ser19Thr,ENST00000415050,NM_001098621.1;TMEM251,intron_variant,,ENST00000283534,NM_015676.1;RP11-371E8.4,intron_variant,,ENST00000557574,;MOAP1,upstream_gene_variant,,ENST00000556883,;MOAP1,upstream_gene_variant,,ENST00000298894,NM_022151.4;RP11-371E8.4,intron_variant,,ENST00000557048,;RP11-371E8.4,intron_variant,,ENST00000554824,;	uc010auo.2	c.55T>A	430/1303	2	2			c.55T>A						14	SNP	c.(55-57)TCT>ACT	32	32				0	Broad	hypothetical protein LOC26175 isoform 1			93651787		0.502	ENSG00000153485	1702	g.chr14:93651787T>A		integral to membrane								255.618739	KEEP	57	48	-1	67	95	57	48	-1	258.373883	67	95	0.383621	1	0	0	0	0	1	0	0	0	--	--		0	A			MOAP1_uc001ybj.2_5'Flank|C14orf109_uc001ybk.3_Intron	194	GBM-27-1835-TP	p.S19T	T	GCTGAGTGACTCTTTAACGCT	NM_001098621	NP_001092091	93651787	Q8N6I4	CN109_HUMAN	0		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)	1	413	+	A	A		all_cancers(154;0.11)|Acute lymphoblastic leukemia(33;0.0488)	Missense_Mutation	13						
TMEM255A	0	broad.mit.edu	GRCh37	X	119410875	119410875	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-19-5951-01	TCGA-19-5951-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309720.5:c.612C>A	p.Tyr204Ter	p.Y204*	ENST00000309720	NM_017938.3	204	taC/taA	0			1			T	Y/*	uc004eso.3	protein_coding	YES	CCDS14597.1			612/1050									lung(1)|breast(1)	2	c.(610-612)TAC>TAA			Pfam_domain:PF14967	hypothetical protein LOC55026 isoform 1				ENSP00000310110		10-Aug									COSM2156671	10-Aug	.		ENST00000309720	Transcript				integral to membrane		ENSG00000125355	g.chrX:119410875G>T	26086			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,X,119410875,G,T&fts=all	Y204*	--	--	1																																		FAM70A_uc004esp.3_Nonsense_Mutation_p.Y180*|FAM70A_uc010nqo.2_Intron	1	1			p.Y204*	NM_017938	NP_060408			1	T255A_HUMAN	TMEM255A	HGNC	Q5JRV8	FA70A_HUMAN					8	839	-			UPI0000246DA1	204					SNV	TMEM255A,stop_gained,p.Tyr180Ter,ENST00000371369,NM_001104544.1;TMEM255A,stop_gained,p.Tyr204Ter,ENST00000309720,NM_017938.3;TMEM255A,stop_gained,p.Tyr40Ter,ENST00000371352,;TMEM255A,intron_variant,,ENST00000440464,NM_001104545.1;TMEM255A,intron_variant,,ENST00000519908,;RP11-45J1.1,downstream_gene_variant,,ENST00000439244,;	uc004eso.3	c.612C>A	736/3394	5	1			c.612C>A						23	SNP	c.(610-612)TAC>TAA	10	10			lung(1)|breast(1)	2	Broad	hypothetical protein LOC55026 isoform 1			119410875		0.582	ENSG00000125355	5509	g.chrX:119410875G>T		integral to membrane								262.742682	KEEP	41	48	0.460674157	39	66	41	48	0.460674157	262.827405	39	66	0.47561	1	0	0	0	0	0	1	0	0	--	--		0	T			FAM70A_uc004esp.3_Nonsense_Mutation_p.Y180*|FAM70A_uc010nqo.2_Intron	171	GBM-19-5951-TP	p.Y204*	G	CGATGTATTCGTAGTACCCAC	NM_017938	NP_060408	119410875	Q5JRV8	FA70A_HUMAN	0			8	839	-	T	T			Nonsense_Mutation	204						
TMEM256-PLSCR3	100529211	broad.mit.edu	GRCh37	17	7296587	7296587	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0879-01	TCGA-06-0879-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000535512.1:c.383G>A	p.Arg128His	p.R128H	ENST00000535512		128	cGt/cAt	0			1			T	R/H	uc002ggm.1	protein_coding	YES	CCDS42253.1			383/888										0	c.(382-384)CGT>CAT			Pfam_domain:PF03803,hmmpanther:PTHR23248,hmmpanther:PTHR23248:SF8	phospholipid scramblase 3				ENSP00000438547		11-Aug									COSM3403206,COSM3403207	11-Aug	.		ENST00000535512	Transcript			phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding	ENSG00000187838	g.chr17:7296587C>T	49186			MODERATE		2.665	medium	getma.org/?cm=msa&ty=f&p=PLS3_HUMAN&rb=62&re=284&var=R128H	NA	getma.org/?cm=var&var=hg19,17,7296587,C,T&fts=all	R128H	--	--	1																																		PLSCR3_uc002ggl.2_Missense_Mutation_p.R128H|PLSCR3_uc002ggq.1_Intron|PLSCR3_uc002ggn.1_Missense_Mutation_p.R128H|PLSCR3_uc002ggo.1_Missense_Mutation_p.R128H|PLSCR3_uc002ggp.1_Intron|PLSCR3_uc002ggr.1_Missense_Mutation_p.R128H|PLSCR3_uc010cmg.1_Missense_Mutation_p.R128H	1,1	1		probably_damaging(0.997)	p.R128H	NM_020360	NP_065093		deleterious(0)	1,1	PLS3_HUMAN	TMEM256-PLSCR3	HGNC	Q9NRY6	PLS3_HUMAN			I3L4F5_HUMAN		5	592	-		Prostate(122;0.173)	UPI000006FF67	128			Cytoplasmic (By similarity).		SNV	TMEM256-PLSCR3,missense_variant,p.Arg128His,ENST00000535512,;TMEM256-PLSCR3,missense_variant,p.Arg128His,ENST00000574401,NM_020360.3;TMEM256-PLSCR3,missense_variant,p.Arg128His,ENST00000576201,;TMEM256-PLSCR3,missense_variant,p.Arg128His,ENST00000324822,NM_001201576.1;TMEM256-PLSCR3,missense_variant,p.Arg128His,ENST00000576362,;TMEM256-PLSCR3,missense_variant,p.Arg38His,ENST00000575434,;TMEM256-PLSCR3,5_prime_UTR_variant,,ENST00000571802,;TMEM256-PLSCR3,intron_variant,,ENST00000571078,;TMEM256-PLSCR3,intron_variant,,ENST00000573213,;TNK1,downstream_gene_variant,,ENST00000570896,;TNK1,downstream_gene_variant,,ENST00000576812,NM_001251902.1;TNK1,downstream_gene_variant,,ENST00000311668,NM_003985.4;TNK1,downstream_gene_variant,,ENST00000576716,;C17orf61-PLSCR3,3_prime_UTR_variant,,ENST00000573331,;C17orf61-PLSCR3,3_prime_UTR_variant,,ENST00000570600,;TMEM256-PLSCR3,non_coding_transcript_exon_variant,,ENST00000571541,;TMEM256-PLSCR3,non_coding_transcript_exon_variant,,ENST00000573774,;TMEM256-PLSCR3,intron_variant,,ENST00000573070,;TMEM256-PLSCR3,intron_variant,,ENST00000575543,;C17orf61-PLSCR3,intron_variant,,ENST00000571125,;C17orf61-PLSCR3,downstream_gene_variant,,ENST00000570569,;	uc002ggm.1	c.383G>A	1401/2557	1	1			c.383G>A						17	SNP	c.(382-384)CGT>CAT	15	15				0	Broad	phospholipid scramblase 3			7296587		0.716	ENSG00000187838	11913	g.chr17:7296587C>T	phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding							11.164142	KEEP	5	3	-1	11	20	5	3	-1	12.30153	11	20	0.25	1	0	0	0	0	1	0	0	0	--	--		0	T			PLSCR3_uc002ggl.2_Missense_Mutation_p.R128H|PLSCR3_uc002ggq.1_Intron|PLSCR3_uc002ggn.1_Missense_Mutation_p.R128H|PLSCR3_uc002ggo.1_Missense_Mutation_p.R128H|PLSCR3_uc002ggp.1_Intron|PLSCR3_uc002ggr.1_Missense_Mutation_p.R128H|PLSCR3_uc010cmg.1_Missense_Mutation_p.R128H	75	GBM-06-0879-TP	p.R128H	C	ACAGCACAGACGGGCGCAGCA	NM_020360	NP_065093	7296587	Q9NRY6	PLS3_HUMAN	0			5	592	-	T	T		Prostate(122;0.173)	Missense_Mutation	128			Cytoplasmic (By similarity).			
TMEM260	0	broad.mit.edu	GRCh37	14	57075891	57075891	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-4157-01	TCGA-14-4157-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261556.6:c.704A>G	p.His235Arg	p.H235R	ENST00000261556	NM_017799.3	235	cAc/cGc	0			1			G	H/R	uc001xcm.2	protein_coding	YES	CCDS9727.2			704/2124									breast(1)|central_nervous_system(1)	2	c.(703-705)CAC>CGC			hmmpanther:PTHR16214,Transmembrane_helices:TMhelix	hypothetical protein LOC54916				ENSP00000261556		16-Jun									COSM3401358	16-Jun	.		ENST00000261556	Transcript				integral to membrane		ENSG00000070269	g.chr14:57075891A>G	20185			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=CN101_HUMAN&rb=219&re=418&var=H235R	NA	getma.org/?cm=var&var=hg19,14,57075891,A,G&fts=all	H235R	--	--	1																																		C14orf101_uc001xcj.2_RNA|C14orf101_uc001xck.2_Missense_Mutation_p.H235R|C14orf101_uc010aot.1_Missense_Mutation_p.H235R|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_5'UTR	1	1		benign(0.019)	p.H235R	NM_017799	NP_060269		deleterious(0)	1	TM260_HUMAN	TMEM260	HGNC	Q9NX78	CN101_HUMAN		OV - Ovarian serous cystadenocarcinoma(311;0.226)	G3V4Y3_HUMAN,B3KN73_HUMAN		6	826	+			UPI00001FD5D2	235			Helical; (Potential).		SNV	TMEM260,missense_variant,p.His235Arg,ENST00000261556,NM_017799.3;TMEM260,missense_variant,p.His235Arg,ENST00000538838,;TMEM260,5_prime_UTR_variant,,ENST00000536419,;TMEM260,upstream_gene_variant,,ENST00000553335,;TMEM260,missense_variant,p.His79Arg,ENST00000556422,;TMEM260,missense_variant,p.His235Arg,ENST00000539559,;TMEM260,missense_variant,p.His12Arg,ENST00000555905,;TMEM260,3_prime_UTR_variant,,ENST00000555497,;TMEM260,3_prime_UTR_variant,,ENST00000556929,;TMEM260,non_coding_transcript_exon_variant,,ENST00000557657,;TMEM260,non_coding_transcript_exon_variant,,ENST00000557626,;TMEM260,non_coding_transcript_exon_variant,,ENST00000556079,;	uc001xcm.2	c.704A>G	826/4264	4	4			c.704A>G						14	SNP	c.(703-705)CAC>CGC	17	17			breast(1)|central_nervous_system(1)	2	Broad	hypothetical protein LOC54916			57075891		0.488	ENSG00000070269	1697	g.chr14:57075891A>G		integral to membrane								942.193045	KEEP	139	170	-1	182	213	139	170	-1	944.143424	182	213	0.44	1	0	0	0	0	1	0	0	0	--	--		0	G			C14orf101_uc001xcj.2_RNA|C14orf101_uc001xck.2_Missense_Mutation_p.H235R|C14orf101_uc010aot.1_Missense_Mutation_p.H235R|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_5'UTR	152	GBM-14-4157-TP	p.H235R	A	CCCTATGTCCACCTTCCCATC	NM_017799	NP_060269	57075891	Q9NX78	CN101_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(311;0.226)	6	826	+	G	G			Missense_Mutation	235			Helical; (Potential).			
TMEM38A	0	broad.mit.edu	GRCh37	19	16790904	16790904	+	synonymous_variant	Silent	SNP	C	C	T	rs144587502		TCGA-12-3650-01	TCGA-12-3650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000187762.2:c.234C>T	p.Ile78=	p.I78=	ENST00000187762	NM_024074.1	78	atC/atT	0	T:0		1			T	I	uc002nes.2	protein_coding	YES	CCDS12349.1			234/900									central_nervous_system(2)|ovary(1)	3	c.(232-234)ATC>ATT			Pfam_domain:PF05197,hmmpanther:PTHR12454,hmmpanther:PTHR12454:SF3	transmembrane protein 38A			T:0.0001	ENSP00000187762		6-Feb	4.12E-05	9.73E-05				6.03E-05			rs144587502,COSM3403893	6-Feb	.		ENST00000187762	Transcript				integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	ENSG00000072954	g.chr19:16790904C>T	28462			LOW								--	--	1																																			0,1	1			p.I78I	NM_024074	NP_076979			0,1	TM38A_HUMAN	TMEM38A	HGNC	Q9H6F2	TM38A_HUMAN					2	325	+			UPI000006E0B9	78			Cytoplasmic (Potential).		SNV	TMEM38A,synonymous_variant,p.=,ENST00000187762,NM_024074.1;TMEM38A,synonymous_variant,p.=,ENST00000599479,;TMEM38A,non_coding_transcript_exon_variant,,ENST00000595452,;	uc002nes.2	c.234C>T	325/2649	2	2			c.234C>T						19	SNP	c.(232-234)ATC>ATT	21	21			central_nervous_system(2)|ovary(1)	3	Broad	transmembrane protein 38A			16790904		0.602	ENSG00000072954	15909	g.chr19:16790904C>T		integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity							78.030616	KEEP	24	11	-1	59	44	24	11	-1	84.64801	59	44	0.252101	1	0	0	0	0	0	0	1	0	--	--		0	T				126	GBM-12-3650-TP	p.I78I	C	AGCCACTGATCGATTACTTCA	NM_024074	NP_076979	16790904	Q9H6F2	TM38A_HUMAN	0			2	325	+	T	T			Silent	78			Cytoplasmic (Potential).			
TMEM41B	440026	broad.mit.edu	GRCh37	11	9305021	9305021	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0238-01	TCGA-06-0238-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000528080.1:c.826T>C	p.Ser276Pro	p.S276P	ENST00000528080	NM_015012.3	276	Tct/Cct	0			1			G	S/P	uc001mhm.2	nonsense_mediated_decay		CCDS31424.1			826/876										0	c.(826-828)TCT>CCT			Transmembrane_helices:TMhelix,hmmpanther:PTHR12677,hmmpanther:PTHR12677:SF15	transmembrane protein 41B isoform 1				ENSP00000299596		8-Jul									COSM3398209	8-Jul	.		ENST00000299596	Transcript				integral to membrane		ENSG00000166471	g.chr11:9305021A>G	28948			MODERATE		2.16	medium	getma.org/?cm=msa&ty=f&p=TM41B_HUMAN&rb=251&re=291&var=S276P	NA	getma.org/?cm=var&var=hg19,11,9305021,A,G&fts=all	S276P	--	--	1																																		TMEM41B_uc001mhn.1_Missense_Mutation_p.S276P	1			possibly_damaging(0.5)	p.S276P	NM_015012	NP_055827		deleterious(0.03)	1	TM41B_HUMAN	TMEM41B	HGNC	Q5BJD5	TM41B_HUMAN		all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)			7	1134	-			UPI00001C1EF6	276			Helical; (Potential).		SNV	TMEM41B,missense_variant,p.Ser276Pro,ENST00000528080,NM_015012.3;TMEM41B,downstream_gene_variant,,ENST00000527813,;TMEM41B,missense_variant,p.Ser276Pro,ENST00000299596,;TMEM41B,3_prime_UTR_variant,,ENST00000524543,;TMEM41B,non_coding_transcript_exon_variant,,ENST00000533867,;	uc001mhm.2	c.826T>C	952/1443	3	3			c.826T>C						11	SNP	c.(826-828)TCT>CCT	14	14				0	Broad	transmembrane protein 41B isoform 1			9305021		0.358	ENSG00000166471	15915	g.chr11:9305021A>G		integral to membrane								5.297925	KEEP	3	3	-1	31	30	3	3	-1	15.165092	31	30	0.098361	1	0	0	0	0	1	0	0	0	--	--		0	G			TMEM41B_uc001mhn.1_Missense_Mutation_p.S276P	55	GBM-06-0238-TP	p.S276P	A	GGCAGAATAGAAAGAACAGCC	NM_015012	NP_055827	9305021	Q5BJD5	TM41B_HUMAN	0		all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)	7	1134	-	G	G			Missense_Mutation	276			Helical; (Potential).			
TMEM44	0	broad.mit.edu	GRCh37	3	194325157	194325157	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-26-5133-01	TCGA-26-5133-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392432.2:c.1176delC	p.Arg393GlyfsTer53	p.R393Gfs*53	ENST00000392432	NM_001166305.1	392	acC/ac	0			1			-	T/X	uc010hzn.2	protein_coding	YES	CCDS54699.1			1176/1428										0	c.(1174-1176)ACCfs			hmmpanther:PTHR16201,hmmpanther:PTHR16201:SF33	transmembrane protein 44 isoform b				ENSP00000376227		11-Oct										11-Oct	.		ENST00000392432	Transcript				integral to membrane		ENSG00000145014	g.chr3:194325157delG	25120			HIGH								--	--	1																																		TMEM44_uc010hzm.2_Frame_Shift_Del_p.P76fs|TMEM44_uc003fuc.2_Frame_Shift_Del_p.T77fs|TMEM44_uc003fue.2_Frame_Shift_Del_p.T345fs|TMEM44_uc003fud.2_Frame_Shift_Del_p.T345fs|TMEM44_uc003fuf.2_Frame_Shift_Del_p.P344fs|TMEM44_uc011bsv.1_Frame_Shift_Del_p.T345fs|TMEM44_uc003fuh.1_RNA		1			p.T392fs	NM_001011655	NP_001011655				TMM44_HUMAN	TMEM44	HGNC	Q2T9K0	TMM44_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)	Q96I73_HUMAN		10	1345	-	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		UPI00015E0940	392			Cytoplasmic (Potential).		deletion	TMEM44,frameshift_variant,p.Arg393GlyfsTer53,ENST00000392432,NM_001166305.1;TMEM44,frameshift_variant,p.Arg346GlyfsTer54,ENST00000273580,NM_138399.4;TMEM44,frameshift_variant,p.Arg346GlyfsTer53,ENST00000347147,NM_001011655.2,NM_001166306.1;TMEM44,frameshift_variant,p.Pro344GlnfsTer5,ENST00000381975,;TMEM44,frameshift_variant,p.Arg346GlyfsTer53,ENST00000473092,;TMEM44,frameshift_variant,p.Arg104GlyfsTer54,ENST00000432352,;TMEM44,frameshift_variant,p.Arg179GlyfsTer53,ENST00000452358,;TMEM44,frameshift_variant,p.Pro76GlnfsTer5,ENST00000429560,;TMEM44,non_coding_transcript_exon_variant,,ENST00000467284,;TMEM44,3_prime_UTR_variant,,ENST00000419280,;TMEM44,non_coding_transcript_exon_variant,,ENST00000477651,;	uc010hzn.2	c.1176delC	1382/2490	5	5			c.1176delC						3	DEL	c.(1174-1176)ACCfs	25	25				0	Broad	transmembrane protein 44 isoform b			194325157		0.597	ENSG00000145014	15918	g.chr3:194325157delG		integral to membrane																					0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			TMEM44_uc010hzm.2_Frame_Shift_Del_p.P76fs|TMEM44_uc003fuc.2_Frame_Shift_Del_p.T77fs|TMEM44_uc003fue.2_Frame_Shift_Del_p.T345fs|TMEM44_uc003fud.2_Frame_Shift_Del_p.T345fs|TMEM44_uc003fuf.2_Frame_Shift_Del_p.P344fs|TMEM44_uc011bsv.1_Frame_Shift_Del_p.T345fs|TMEM44_uc003fuh.1_RNA	182	GBM-26-5133-TP	p.T392fs	G	CTGGCAGCCTGGTGGCACTGC	NM_001011655	NP_001011655	194325157	Q2T9K0	TMM44_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)	10	1345	-	-	-	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		Frame_Shift_Del	392			Cytoplasmic (Potential).			
TMEM52	339456	broad.mit.edu	GRCh37	1	1849551	1849551	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310991.3:c.400G>T	p.Gly134Trp	p.G134W	ENST00000310991	NM_178545.3	134	Ggg/Tgg	0			1			A	G/W	uc001aij.2	protein_coding	YES	CCDS35.1			400/630										0	c.(400-402)GGG>TGG			Pfam_domain:PF14979	transmembrane protein 52 precursor				ENSP00000311122		5-May									COSM3400091,COSM3400092	5-May	.		ENST00000310991	Transcript				integral to membrane		ENSG00000178821	g.chr1:1849551C>A	27916			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=TMM52_HUMAN&rb=17&re=207&var=G134W	NA	getma.org/?cm=var&var=hg19,1,1849551,C,A&fts=all	G134W	--	--	1																																		TMEM52_uc001aii.2_Missense_Mutation_p.G119W	1,1	1		probably_damaging(0.997)	p.G134W	NM_178545	NP_848640		tolerated(0.18)	1,1	TMM52_HUMAN	TMEM52	HGNC	Q8NDY8	TMM52_HUMAN		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	R4GMU3_HUMAN		5	436	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	UPI00000728B5	134					SNV	TMEM52,missense_variant,p.Gly119Trp,ENST00000378602,;TMEM52,missense_variant,p.Gly134Trp,ENST00000310991,NM_178545.3;TMEM52,intron_variant,,ENST00000378598,;C1orf222,downstream_gene_variant,,ENST00000493964,;CALML6,downstream_gene_variant,,ENST00000307786,NM_138705.2;CALML6,downstream_gene_variant,,ENST00000378604,;TMEM52,downstream_gene_variant,,ENST00000416272,;CALML6,downstream_gene_variant,,ENST00000462293,;TMEM52,3_prime_UTR_variant,,ENST00000470931,;TMEM52,non_coding_transcript_exon_variant,,ENST00000602604,;C1orf222,downstream_gene_variant,,ENST00000464311,;C1orf222,downstream_gene_variant,,ENST00000412120,;CALML6,downstream_gene_variant,,ENST00000482402,;	uc001aij.2	c.400G>T	408/929	1	1			c.400G>T						1	SNP	c.(400-402)GGG>TGG	63	63				0	Broad	transmembrane protein 52 precursor			1849551		0.637	ENSG00000178821	15928	g.chr1:1849551C>A		integral to membrane								-12.943105	KEEP	3	3	0.5	66	43	3	3	0.5	7.085288	66	43	0.060606	1	0	0	0	0	1	0	0	0	--	--		0	A			TMEM52_uc001aii.2_Missense_Mutation_p.G119W	62	GBM-06-0649-TP	p.G134W	C	TCCAGCTCCCCAAAGGGCAGG	NM_178545	NP_848640	1849551	Q8NDY8	TMM52_HUMAN	0		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	5	436	-	A	A	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	Missense_Mutation	134						
TMEM57	0	broad.mit.edu	GRCh37	1	25784890	25784890	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01	TCGA-19-5955-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374343.4:c.661G>A	p.Gly221Arg	p.G221R	ENST00000374343	NM_018202.4	221	Gga/Aga	0			1			A	G/R	uc001bkk.2	protein_coding	YES	CCDS30638.1			661/1995										0	c.(661-663)GGA>AGA			Low_complexity_(Seg):seg,hmmpanther:PTHR13289:SF4,hmmpanther:PTHR13289,Pfam_domain:PF09726	transmembrane protein 57				ENSP00000363463		11-Jun									COSM3400634	11-Jun	.		ENST00000374343	Transcript				axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		ENSG00000204178	g.chr1:25784890G>A	25572			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=MACOI_HUMAN&rb=2&re=662&var=G221R	NA	getma.org/?cm=var&var=hg19,1,25784890,G,A&fts=all	G221R	--	--	1																																		TMEM57_uc009vru.2_Intron|TMEM57_uc009vrv.2_Intron|TMEM57_uc009vrt.2_RNA	1	1		possibly_damaging(0.826)	p.G221R	NM_018202	NP_060672		tolerated(0.13)	1	MACOI_HUMAN	TMEM57	HGNC	Q8N5G2	MACOI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)	Q9H5V1_HUMAN		6	863	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)	UPI000004A074	221					SNV	TMEM57,missense_variant,p.Gly221Arg,ENST00000374343,NM_018202.4;TMEM57,intron_variant,,ENST00000399766,NM_001282564.1;TMEM57,intron_variant,,ENST00000399763,;TMEM57,non_coding_transcript_exon_variant,,ENST00000470035,;	uc001bkk.2	c.661G>A	840/3917	2	2			c.661G>A						1	SNP	c.(661-663)GGA>AGA	29	29				0	Broad	transmembrane protein 57			25784890		0.378	ENSG00000204178	15934	g.chr1:25784890G>A		axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part								106.959577	KEEP	31	29	-1	145	151	31	29	-1	141.683976	145	151	0.159236	1	0	0	0	0	1	0	0	0	--	--		0	A			TMEM57_uc009vru.2_Intron|TMEM57_uc009vrv.2_Intron|TMEM57_uc009vrt.2_RNA	175	GBM-19-5955-TP	p.G221R	G	AGCAGCCAAAGGATTACCTGA	NM_018202	NP_060672	25784890	Q8N5G2	MACOI_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)	6	863	+	A	A		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)	Missense_Mutation	221						
TMEM59L	25789	broad.mit.edu	GRCh37	19	18731283	18731283	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0126-01	TCGA-06-0126-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000600490.1:c.966G>A	p.Pro322=	p.P322=	ENST00000600490		322	ccG/ccA	0			1			A	P	uc002njy.3	protein_coding		CCDS12383.1			966/1029									ovary(2)|skin(2)	4	c.(964-966)CCG>CCA				brain-specific membrane-anchored protein				ENSP00000262817		8-Aug									COSM2149423	8-Aug	.		ENST00000262817	Transcript				Golgi membrane|integral to membrane|membrane fraction		ENSG00000105696	g.chr19:18731283G>A	13237			LOW								--	--	1																																			1				p.P322P	NM_012109	NP_036241			1	TM59L_HUMAN	TMEM59L	HGNC	Q9UK28	TM59L_HUMAN					8	1053	+			UPI0000034024	322					SNV	TMEM59L,synonymous_variant,p.=,ENST00000600490,;TMEM59L,synonymous_variant,p.=,ENST00000262817,NM_012109.2;TMEM59L,downstream_gene_variant,,ENST00000594709,;TMEM59L,non_coding_transcript_exon_variant,,ENST00000598660,;TMEM59L,downstream_gene_variant,,ENST00000594859,;	uc002njy.3	c.966G>A	1053/1611	1	1			c.966G>A						19	SNP	c.(964-966)CCG>CCA	62	62			ovary(2)|skin(2)	4	Broad	brain-specific membrane-anchored protein			18731283		0.642	ENSG00000105696	15936	g.chr19:18731283G>A		Golgi membrane|integral to membrane|membrane fraction								142.481405	KEEP	17	45	-1	67	67	17	45	-1	146.621191	67	67	0.326923	1	0	0	0	0	0	0	1	0	--	--		0	A				13	GBM-06-0126-TP	p.P322P	G	ACCCGCCGCCGTCCCACGCCT	NM_012109	NP_036241	18731283	Q9UK28	TM59L_HUMAN	0			8	1053	+	A	A			Silent	322						
TMEM59L	0	broad.mit.edu	GRCh37	19	18724803	18724803	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01	TCGA-32-2495-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262817.3:c.293C>T	p.Ala98Val	p.A98V	ENST00000262817	NM_012109.2	98	gCc/gTc	0			1			T	A/V	uc002njy.3	protein_coding		CCDS12383.1			293/1029									ovary(2)|skin(2)	4	c.(292-294)GCC>GTC			Pfam_domain:PF12280	brain-specific membrane-anchored protein				ENSP00000262817		8-Feb									COSM3403965	8-Feb	.		ENST00000262817	Transcript				Golgi membrane|integral to membrane|membrane fraction		ENSG00000105696	g.chr19:18724803C>T	13237			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=TM59L_HUMAN&rb=79&re=284&var=A98V	NA	getma.org/?cm=var&var=hg19,19,18724803,C,T&fts=all	A98V	--	--	1																																		TMEM59L_uc010ebu.1_Missense_Mutation_p.A98V	1			benign(0.257)	p.A98V	NM_012109	NP_036241		tolerated(0.18)	1	TM59L_HUMAN	TMEM59L	HGNC	Q9UK28	TM59L_HUMAN					2	380	+			UPI0000034024	98					SNV	TMEM59L,missense_variant,p.Ala98Val,ENST00000600490,;TMEM59L,missense_variant,p.Ala98Val,ENST00000262817,NM_012109.2;TMEM59L,upstream_gene_variant,,ENST00000594709,;TMEM59L,non_coding_transcript_exon_variant,,ENST00000598660,;TMEM59L,non_coding_transcript_exon_variant,,ENST00000594859,;	uc002njy.3	c.293C>T	380/1611	2	2			c.293C>T						19	SNP	c.(292-294)GCC>GTC	19	19			ovary(2)|skin(2)	4	Broad	brain-specific membrane-anchored protein			18724803		0.652	ENSG00000105696	15936	g.chr19:18724803C>T		Golgi membrane|integral to membrane|membrane fraction								-16.728464	KEEP	1	3	-1	49	67	1	3	-1	7.439331	49	67	0.038095	1	0	0	0	0	1	0	0	0	--	--		0	T			TMEM59L_uc010ebu.1_Missense_Mutation_p.A98V	237	GBM-32-2495-TP	p.A98V	C	AAGCCCAATGCCACCCAAACT	NM_012109	NP_036241	18724803	Q9UK28	TM59L_HUMAN	0			2	380	+	T	T			Missense_Mutation	98						
TMEM61	0	broad.mit.edu	GRCh37	1	55457654	55457654	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01	TCGA-28-5208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371268.3:c.511G>A	p.Ala171Thr	p.A171T	ENST00000371268	NM_182532.1	171	Gcc/Acc	0			1			A	A/T	uc001cyd.2	protein_coding	YES	CCDS601.1			511/633										0	c.(511-513)GCC>ACC			Pfam_domain:PF15105	transmembrane protein 61				ENSP00000360315		3-Mar	2.47E-05					3.00E-05		6.06E-05	rs527691651,COSM1343555	3-Mar	.		ENST00000371268	Transcript				integral to membrane		ENSG00000143001	g.chr1:55457654G>A	27296			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TMM61_HUMAN&rb=2&re=208&var=A171T	NA	getma.org/?cm=var&var=hg19,1,55457654,G,A&fts=all	A171T	--	--	1																																			0,1	1		benign(0.037)	p.A171T	NM_182532	NP_872338		tolerated(0.35)	0,1	TMM61_HUMAN	TMEM61	HGNC	Q8N0U2	TMM61_HUMAN					3	785	+			UPI00000361F8	171					SNV	TMEM61,missense_variant,p.Ala171Thr,ENST00000371268,NM_182532.1;RP11-12C17.2,non_coding_transcript_exon_variant,,ENST00000436960,;	uc001cyd.2	c.511G>A	785/1097	1	1			c.511G>A						1	SNP	c.(511-513)GCC>ACC	51	51				0	Broad	transmembrane protein 61			55457654		0.642	ENSG00000143001	15938	g.chr1:55457654G>A		integral to membrane								319.421298	KEEP	64	51	-1	80	74	64	51	-1	320.435738	80	74	0.432432	1	0	0	0	0	1	0	0	0	--	--		0	A				217	GBM-28-5208-TP	p.A171T	G	CACCCAGCCCGCCTGGCCTCC	NM_182532	NP_872338	55457654	Q8N0U2	TMM61_HUMAN	0			3	785	+	A	A			Missense_Mutation	171						
TMEM62	0	broad.mit.edu	GRCh37	15	43476674	43476674	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs146146981	byFrequency	TCGA-74-6573-01	TCGA-74-6573-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260403.2:c.1822C>T	p.Arg608Trp	p.R608W	ENST00000260403	NM_024956.3	608	Cgg/Tgg	0	T:0.0005	T:0	1	T:0		T	R/W	uc001zqr.2	protein_coding	YES	CCDS32210.1			1822/1932									ovary(1)|breast(1)	2	c.(1822-1824)CGG>TGG			Transmembrane_helices:TMhelix,hmmpanther:PTHR14795	transmembrane protein 62		T:0	T:0	ENSP00000260403	T:0	14/14	3.29E-05	0.000192				1.50E-05		6.06E-05	rs146146981,COSM3401740	14/14	.		ENST00000260403	Transcript		T:0.0002		integral to membrane		ENSG00000137842	g.chr15:43476674C>T	26269			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=TMM62_HUMAN&rb=435&re=634&var=R608W	NA	getma.org/?cm=var&var=hg19,15,43476674,C,T&fts=all	R608W	--	--	1																																		TMEM62_uc010bda.2_Missense_Mutation_p.R443W|TMEM62_uc001zqt.2_Missense_Mutation_p.R177W|CCNDBP1_uc001zqu.2_5'Flank|CCNDBP1_uc001zqv.2_5'Flank|CCNDBP1_uc010bdc.2_5'Flank|CCNDBP1_uc010bdb.2_5'Flank|CCNDBP1_uc010udl.1_5'Flank|CCNDBP1_uc001zqw.2_5'Flank|CCNDBP1_uc001zqx.2_5'Flank|CCNDBP1_uc010bdd.2_5'Flank|CCNDBP1_uc001zqy.2_5'Flank	0,1	1		probably_damaging(0.957)	p.R608W	NM_024956	NP_079232	T:0.001	deleterious(0)	0,1	TMM62_HUMAN	TMEM62	HGNC	Q0P6H9	TMM62_HUMAN		GBM - Glioblastoma multiforme(94;4.23e-07)	H3BTT1_HUMAN,H3BPV2_HUMAN		14	2101	+		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	UPI00004443FD	608			Helical; (Potential).		SNV	TMEM62,missense_variant,p.Arg608Trp,ENST00000260403,NM_024956.3;TMEM62,missense_variant,p.Arg505Trp,ENST00000564494,;CCNDBP1,upstream_gene_variant,,ENST00000300213,NM_012142.4;CCNDBP1,upstream_gene_variant,,ENST00000356633,;RP11-473C18.3,splice_region_variant,,ENST00000565685,;EPB42,intron_variant,,ENST00000563128,;TMEM62,downstream_gene_variant,,ENST00000569369,;EPB42,upstream_gene_variant,,ENST00000570199,;TMEM62,non_coding_transcript_exon_variant,,ENST00000563859,;CCNDBP1,upstream_gene_variant,,ENST00000566882,;CCNDBP1,upstream_gene_variant,,ENST00000568936,;CCNDBP1,upstream_gene_variant,,ENST00000564630,;CCNDBP1,upstream_gene_variant,,ENST00000565296,;CCNDBP1,upstream_gene_variant,,ENST00000566515,;CCNDBP1,upstream_gene_variant,,ENST00000444658,;CCNDBP1,upstream_gene_variant,,ENST00000563065,;CCNDBP1,upstream_gene_variant,,ENST00000568507,;CCNDBP1,upstream_gene_variant,,ENST00000569745,;CCNDBP1,upstream_gene_variant,,ENST00000567690,;TMEM62,downstream_gene_variant,,ENST00000566122,;CCNDBP1,upstream_gene_variant,,ENST00000562553,;CCNDBP1,upstream_gene_variant,,ENST00000567434,;CCNDBP1,upstream_gene_variant,,ENST00000566833,;	uc001zqr.2	c.1822C>T	2101/2771	1	1			c.1822C>T						15	SNP	c.(1822-1824)CGG>TGG	9	9			ovary(1)|breast(1)	2	Broad	transmembrane protein 62			43476674		0.448	ENSG00000137842	15939	g.chr15:43476674C>T		integral to membrane								-59.439381	KEEP	4	2	-1	160	124	4	2	-1	7.785481	160	124	0.019305	1	0	0	0	0	1	0	0	0	--	--		0	T			TMEM62_uc010bda.2_Missense_Mutation_p.R443W|TMEM62_uc001zqt.2_Missense_Mutation_p.R177W|CCNDBP1_uc001zqu.2_5'Flank|CCNDBP1_uc001zqv.2_5'Flank|CCNDBP1_uc010bdc.2_5'Flank|CCNDBP1_uc010bdb.2_5'Flank|CCNDBP1_uc010udl.1_5'Flank|CCNDBP1_uc001zqw.2_5'Flank|CCNDBP1_uc001zqx.2_5'Flank|CCNDBP1_uc010bdd.2_5'Flank|CCNDBP1_uc001zqy.2_5'Flank	260	GBM-74-6573-TP	p.R608W	C	CTCCCCTTTGCGGACCTGGTT	NM_024956	NP_079232	43476674	Q0P6H9	TMM62_HUMAN	0		GBM - Glioblastoma multiforme(94;4.23e-07)	14	2101	+	T	T		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	Missense_Mutation	608			Helical; (Potential).			
TMEM63B	55362	broad.mit.edu	GRCh37	6	44107303	44107303	+	synonymous_variant	Silent	SNP	C	C	T	rs145356402		TCGA-06-5414-01	TCGA-06-5414-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259746.9:c.507C>T	p.Ser169=	p.S169=	ENST00000259746		169	tcC/tcT	0	T:0		1			T	S	uc003owr.2	protein_coding	YES	CCDS34461.1			507/2499								p.S169S(1)	pancreas(2)|central_nervous_system(1)	3	c.(505-507)TCC>TCT			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Pfam_domain:PF13967,hmmpanther:PTHR13018:SF38,hmmpanther:PTHR13018	transmembrane protein 63B			T:0.0001	ENSP00000259746		24-Jul	2.47E-05					4.50E-05			rs145356402,COSM84979	24-Jul	.		ENST00000259746	Transcript				integral to membrane	nucleotide binding|protein binding	ENSG00000137216	g.chr6:44107303C>T	17735			LOW								--	--	1																																		TMEM63B_uc003owq.1_Silent_p.S169S|TMEM63B_uc010jyy.1_Silent_p.S72S|TMEM63B_uc003ows.2_Silent_p.S72S|TMEM63B_uc010jyz.2_5'Flank	0,1	1			p.S169S	NM_018426	NP_060896			0,1	TM63B_HUMAN	TMEM63B	HGNC	Q5T3F8	TM63B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		E9PNG1_HUMAN		7	571	+	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		UPI000020DDEE	169			Helical; (Potential).		SNV	TMEM63B,synonymous_variant,p.=,ENST00000259746,;TMEM63B,synonymous_variant,p.=,ENST00000323267,NM_018426.1;TMEM63B,synonymous_variant,p.=,ENST00000371893,;TMEM63B,synonymous_variant,p.=,ENST00000532634,;TMEM63B,non_coding_transcript_exon_variant,,ENST00000527188,;TMEM63B,non_coding_transcript_exon_variant,,ENST00000534326,;TMEM63B,non_coding_transcript_exon_variant,,ENST00000525294,;TMEM63B,non_coding_transcript_exon_variant,,ENST00000525873,;TMEM63B,intron_variant,,ENST00000497371,;TMEM63B,upstream_gene_variant,,ENST00000533121,;	uc003owr.2	c.507C>T	690/3318	2	2			c.507C>T						6	SNP	c.(505-507)TCC>TCT	21	21		p.S169S(1)	pancreas(2)|central_nervous_system(1)	3	Broad	transmembrane protein 63B			44107303		0.627	ENSG00000137216	15941	g.chr6:44107303C>T		integral to membrane	nucleotide binding|protein binding							143.773244	KEEP	21	26	-1	33	22	21	26	-1	143.854192	33	22	0.46875	1	0	0	0	0	0	0	1	0	--	--		0	T			TMEM63B_uc003owq.1_Silent_p.S169S|TMEM63B_uc010jyy.1_Silent_p.S72S|TMEM63B_uc003ows.2_Silent_p.S72S|TMEM63B_uc010jyz.2_5'Flank	97	GBM-06-5414-TP	p.S169S	C	GCGTCCTCTCCGTAGGCATCG	NM_018426	NP_060896	44107303	Q5T3F8	TM63B_HUMAN	0	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		7	571	+	T	T	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Silent	169			Helical; (Potential).			
TMEM63B	0	broad.mit.edu	GRCh37	6	44122464	44122464	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259746.9:c.2343G>A	p.Val781=	p.V781=	ENST00000259746		781	gtG/gtA	0			1			A	V	uc003owr.2	protein_coding	YES	CCDS34461.1			2343/2499									pancreas(2)|central_nervous_system(1)	3	c.(2341-2343)GTG>GTA			hmmpanther:PTHR13018:SF38,hmmpanther:PTHR13018	transmembrane protein 63B				ENSP00000259746		24/24									COSM3411134	24/24	.		ENST00000259746	Transcript				integral to membrane	nucleotide binding|protein binding	ENSG00000137216	g.chr6:44122464G>A	17735			LOW								--	--	1																																		TMEM63B_uc003ows.2_Silent_p.V684V|TMEM63B_uc010jyz.2_RNA	1	1			p.V781V	NM_018426	NP_060896			1	TM63B_HUMAN	TMEM63B	HGNC	Q5T3F8	TM63B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		E9PNG1_HUMAN		24	2407	+	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		UPI000020DDEE	781					SNV	TMEM63B,synonymous_variant,p.=,ENST00000259746,;TMEM63B,synonymous_variant,p.=,ENST00000323267,NM_018426.1;TMEM63B,synonymous_variant,p.=,ENST00000371893,;CAPN11,upstream_gene_variant,,ENST00000398776,NM_007058.3;CAPN11,upstream_gene_variant,,ENST00000542245,;CAPN11,upstream_gene_variant,,ENST00000532171,;TMEM63B,3_prime_UTR_variant,,ENST00000533121,;CAPN11,upstream_gene_variant,,ENST00000526118,;	uc003owr.2	c.2343G>A	2526/3318	2	2			c.2343G>A						6	SNP	c.(2341-2343)GTG>GTA	25	25			pancreas(2)|central_nervous_system(1)	3	Broad	transmembrane protein 63B			44122464		0.607	ENSG00000137216	15941	g.chr6:44122464G>A		integral to membrane	nucleotide binding|protein binding							147.978804	KEEP	34	20	-1	47	48	34	20	-1	150.461955	47	48	0.359155	1	0	0	0	0	0	0	1	0	--	--		0	A			TMEM63B_uc003ows.2_Silent_p.V684V|TMEM63B_uc010jyz.2_RNA	249	GBM-32-5222-TP	p.V781V	G	ACTCAGAGGTGGACGGGGATG	NM_018426	NP_060896	44122464	Q5T3F8	TM63B_HUMAN	0	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		24	2407	+	A	A	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Silent	781						
TMEM67	91147	broad.mit.edu	GRCh37	8	94767177	94767178	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-06-2557-01	TCGA-06-2557-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000453321.3:c.37dup	p.Val13GlyfsTer44	p.V13Gfs*44	ENST00000453321	NM_153704.5	12	gcg/gcGg	0			1			G	A/AX	uc011lgk.1	protein_coding	YES	CCDS6258.2			35-36/2988									ovary(2)	2	c.(34-36)GCGfs			hmmpanther:PTHR21274,hmmpanther:PTHR21274:SF0,Cleavage_site_(Signalp):SignalP-TM,Transmembrane_helices:TMhelix	meckelin isoform 1				ENSP00000389998		28-Jan									COSM1724674,COSM1724673	28-Jan	.		ENST00000453321	Transcript	1		cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	ENSG00000164953	g.chr8:94767177_94767178insG	28396	2		HIGH								--	--	1																																		TMEM67_uc010mau.2_Frame_Shift_Ins_p.A12fs|TMEM67_uc010mav.2_Frame_Shift_Ins_p.A12fs|TMEM67_uc010mat.1_Intron|TMEM67_uc010maw.2_Frame_Shift_Ins_p.A12fs|TMEM67_uc003yga.3_Intron	1,1	1			p.A12fs	NM_153704	NP_714915			1,1	MKS3_HUMAN	TMEM67	HGNC	Q5HYA8	MKS3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00896)		E5RG10_HUMAN,C9JRQ8_HUMAN		1	106_107	+	Breast(36;4.14e-07)		UPI0000D624E9	12			Helical; (Potential).		insertion	TMEM67,frameshift_variant,p.Val13GlyfsTer44,ENST00000453321,NM_153704.5;TMEM67,frameshift_variant,p.Val13GlyfsTer44,ENST00000453906,;TMEM67,frameshift_variant,p.Val11GlyfsTer44,ENST00000521517,;TMEM67,intron_variant,,ENST00000409623,NM_001142301.1;TMEM67,intron_variant,,ENST00000452276,;TMEM67,intron_variant,,ENST00000518319,;TMEM67,intron_variant,,ENST00000498673,;TMEM67,frameshift_variant,p.Val3GlyfsTer44,ENST00000323130,;TMEM67,frameshift_variant,p.Val13GlyfsTer44,ENST00000455946,;TMEM67,frameshift_variant,p.Val13GlyfsTer44,ENST00000521222,;TMEM67,frameshift_variant,p.Val12GlyfsTer44,ENST00000521065,;TMEM67,non_coding_transcript_exon_variant,,ENST00000474944,;TMEM67,non_coding_transcript_exon_variant,,ENST00000481620,;TMEM67,non_coding_transcript_exon_variant,,ENST00000475305,;	uc011lgk.1	c.35_36insG	93-94/4651	5	5			c.35_36insG						8	INS	c.(34-36)GCGfs	14	14			ovary(2)	2	Broad	meckelin isoform 1			94767178		0.653	ENSG00000164953	15946	g.chr8:94767177_94767178insG	cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding																				0.04	1	0	0	1	1	0	0	0	0	--	--		0	G			TMEM67_uc010mau.2_Frame_Shift_Ins_p.A12fs|TMEM67_uc010mav.2_Frame_Shift_Ins_p.A12fs|TMEM67_uc010mat.1_Intron|TMEM67_uc010maw.2_Frame_Shift_Ins_p.A12fs|TMEM67_uc003yga.3_Intron	81	GBM-06-2557-TP	p.A12fs	-	GTGGCAATGGCGGTTTGGTCCC	NM_153704	NP_714915	94767177	Q5HYA8	MKS3_HUMAN	0	BRCA - Breast invasive adenocarcinoma(8;0.00896)		1	106_107	+	G	G	Breast(36;4.14e-07)		Frame_Shift_Ins	12			Helical; (Potential).			
TMEM69	0	broad.mit.edu	GRCh37	1	46159245	46159245	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-6701-01	TCGA-06-6701-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372025.4:c.412T>C	p.Ser138Pro	p.S138P	ENST00000372025	NM_016486.3	138	Tct/Cct	0			1			C	S/P	uc001cor.1	protein_coding	YES	CCDS41325.1			412/744									ovary(1)	1	c.(412-414)TCT>CCT			Transmembrane_helices:TMhelix,hmmpanther:PTHR15887,Pfam_domain:PF11911	transmembrane protein 69				ENSP00000361095		3-Mar									COSM3400840	3-Mar	.		ENST00000372025	Transcript				integral to membrane		ENSG00000159596	g.chr1:46159245T>C	28035			MODERATE		2.98	medium	getma.org/?cm=msa&ty=f&p=TMM69_HUMAN&rb=91&re=232&var=S138P	NA	getma.org/?cm=var&var=hg19,1,46159245,T,C&fts=all	S138P	--	--	1																																			1	1		possibly_damaging(0.697)	p.S138P	NM_016486	NP_057570		deleterious(0)	1	TMM69_HUMAN	TMEM69	HGNC	Q5SWH9	TMM69_HUMAN					3	608	+	Acute lymphoblastic leukemia(166;0.155)		UPI0000370C39	138			Helical; (Potential).		SNV	TMEM69,missense_variant,p.Ser138Pro,ENST00000372025,NM_016486.3;IPP,downstream_gene_variant,,ENST00000359942,NM_001145349.1;RP11-767N6.7,downstream_gene_variant,,ENST00000430643,;TMEM69,non_coding_transcript_exon_variant,,ENST00000496366,;IPP,downstream_gene_variant,,ENST00000495072,;IPP,downstream_gene_variant,,ENST00000461718,;	uc001cor.1	c.412T>C	1569/2439	4	4			c.412T>C						1	SNP	c.(412-414)TCT>CCT	48	48			ovary(1)	1	Broad	transmembrane protein 69			46159245		0.443	ENSG00000159596	15948	g.chr1:46159245T>C		integral to membrane								33.940759	KEEP	16	5	-1	81	62	16	5	-1	54.077654	81	62	0.127517	1	0	0	0	0	1	0	0	0	--	--		0	C				115	GBM-06-6701-TP	p.S138P	T	CAGTTTCCTATCTTTCTTGGG	NM_016486	NP_057570	46159245	Q5SWH9	TMM69_HUMAN	0			3	608	+	C	C	Acute lymphoblastic leukemia(166;0.155)		Missense_Mutation	138			Helical; (Potential).			
TMEM70	54968	broad.mit.edu	GRCh37	8	74893724	74893724	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0649-01	TCGA-06-0649-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312184.5:c.651A>C	p.Lys217Asn	p.K217N	ENST00000312184	NM_001040613.2	217	aaA/aaC	0			1			C	K/N	uc003yab.2	protein_coding	YES	CCDS6215.1			651/783									ovary(1)	1	c.(649-651)AAA>AAC			Pfam_domain:PF06979,hmmpanther:PTHR13281,hmmpanther:PTHR13281:SF0	transmembrane protein 70 isoform a				ENSP00000312599		3-Mar									COSM3413111	3-Mar	.		ENST00000312184	Transcript	1		mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane		ENSG00000175606	g.chr8:74893724A>C	26050			MODERATE		2.36	medium	getma.org/?cm=msa&ty=f&p=TMM70_HUMAN&rb=106&re=240&var=K217N	NA	getma.org/?cm=var&var=hg19,8,74893724,A,C&fts=all	K217N	--	--	1																																		TMEM70_uc003yac.2_3'UTR	1	1		probably_damaging(0.995)	p.K217N	NM_017866	NP_060336		deleterious(0)	1	TMM70_HUMAN	TMEM70	HGNC	Q9BUB7	TMM70_HUMAN	Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)		L0R5D5_HUMAN		3	738	+	Breast(64;0.0311)		UPI00001BBFAB	217					SNV	TMEM70,missense_variant,p.Lys217Asn,ENST00000312184,NM_001040613.2,NM_017866.5;TMEM70,downstream_gene_variant,,ENST00000517439,;Y_RNA,upstream_gene_variant,,ENST00000365350,;TMEM70,downstream_gene_variant,,ENST00000523794,;TMEM70,downstream_gene_variant,,ENST00000520167,;TMEM70,3_prime_UTR_variant,,ENST00000416961,;TMEM70,downstream_gene_variant,,ENST00000517614,;TMEM70,downstream_gene_variant,,ENST00000519551,;RP11-367E12.4,upstream_gene_variant,,ENST00000517767,;RPS20P21,upstream_gene_variant,,ENST00000466859,;	uc003yab.2	c.651A>C	724/2018	3	3			c.651A>C						8	SNP	c.(649-651)AAA>AAC	62	62			ovary(1)	1	Broad	transmembrane protein 70 isoform a			74893724		0.343	ENSG00000175606	15949	g.chr8:74893724A>C	mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane								-17.385683	KEEP	4	1	-1	76	58	4	1	-1	12.204034	76	58	0.03876	1	0	0	0	0	1	0	0	0	--	--		0	C			TMEM70_uc003yac.2_3'UTR	62	GBM-06-0649-TP	p.K217N	A	CTAAAACAAAATCACTGTTAG	NM_017866	NP_060336	74893724	Q9BUB7	TMM70_HUMAN	0	Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)		3	738	+	C	C	Breast(64;0.0311)		Missense_Mutation	217						
TMEM70	0	broad.mit.edu	GRCh37	8	74888704	74888704	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-32-4211-01	TCGA-32-4211-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312184.5:c.188delT	p.Leu63ProfsTer20	p.L63Pfs*20	ENST00000312184	NM_001040613.2	63	cTc/cc	0			1			-	L/X	uc003yab.2	protein_coding	YES	CCDS6215.1			188/783									ovary(1)	1	c.(187-189)CTCfs			hmmpanther:PTHR13281,hmmpanther:PTHR13281:SF0,Low_complexity_(Seg):seg	transmembrane protein 70 isoform a				ENSP00000312599		3-Jan										3-Jan	.		ENST00000312184	Transcript	1		mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane		ENSG00000175606	g.chr8:74888704delT	26050			HIGH								--	--	1																																		TMEM70_uc003yac.2_Frame_Shift_Del_p.L63fs		1			p.L63fs	NM_017866	NP_060336				TMM70_HUMAN	TMEM70	HGNC	Q9BUB7	TMM70_HUMAN	Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)		L0R5D5_HUMAN		1	275	+	Breast(64;0.0311)		UPI00001BBFAB	63					deletion	TMEM70,frameshift_variant,p.Leu63ProfsTer20,ENST00000312184,NM_001040613.2,NM_017866.5;TMEM70,frameshift_variant,p.Leu63ProfsTer20,ENST00000517439,;TCEB1,upstream_gene_variant,,ENST00000602840,;TCEB1,upstream_gene_variant,,ENST00000518127,NM_001204857.1,NM_001204862.1,NM_001204860.1,NM_001204859.1,NM_001204858.1;TCEB1,upstream_gene_variant,,ENST00000520242,NM_005648.3;TCEB1,upstream_gene_variant,,ENST00000520210,NM_001204864.1,NM_001204863.1;TCEB1,upstream_gene_variant,,ENST00000522337,;TCEB1,upstream_gene_variant,,ENST00000523815,NM_001204861.1;TCEB1,upstream_gene_variant,,ENST00000284811,;TCEB1,upstream_gene_variant,,ENST00000519082,;Y_RNA,downstream_gene_variant,,ENST00000365350,;TMEM70,non_coding_transcript_exon_variant,,ENST00000523794,;TMEM70,intron_variant,,ENST00000520167,;TMEM70,frameshift_variant,p.Leu63ProfsTer20,ENST00000416961,;TMEM70,non_coding_transcript_exon_variant,,ENST00000517614,;TMEM70,upstream_gene_variant,,ENST00000519551,;	uc003yab.2	c.188delT	261/2018	5	5			c.188delT						8	DEL	c.(187-189)CTCfs	57	57			ovary(1)	1	Broad	transmembrane protein 70 isoform a			74888704		0.766	ENSG00000175606	15949	g.chr8:74888704delT	mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane																					0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			TMEM70_uc003yac.2_Frame_Shift_Del_p.L63fs	246	GBM-32-4211-TP	p.L63fs	T	GCGCGCCTTCTCCGGCGTCCG	NM_017866	NP_060336	74888704	Q9BUB7	TMM70_HUMAN	0	Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)		1	275	+	-	-	Breast(64;0.0311)		Frame_Shift_Del	63						
TMEM79	84283	broad.mit.edu	GRCh37	1	156255048	156255048	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01	TCGA-06-0241-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000405535.2:c.31G>A	p.Glu11Lys	p.E11K	ENST00000405535	NM_032323.2	11	Gaa/Aaa	0			1			A	E/K	uc010phi.1	protein_coding		CCDS1138.1			31/1185									central_nervous_system(1)	1	c.(31-33)GAA>AAA			hmmpanther:PTHR31004,hmmpanther:PTHR31004:SF0	transmembrane protein 79				ENSP00000295694		4-Feb									COSM2151122,COSM3399806	4-Feb	.		ENST00000295694	Transcript				integral to membrane		ENSG00000163472	g.chr1:156255048G>A	28196			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=TMM79_HUMAN&rb=1&re=200&var=E11K	NA	getma.org/?cm=var&var=hg19,1,156255048,G,A&fts=all	E11K	--	--	1																																		SMG5_uc001foc.3_5'Flank|TMEM79_uc001fod.2_5'UTR|TMEM79_uc009wrw.2_Missense_Mutation_p.E11K	1,1			benign(0.438)	p.E11K	NM_032323	NP_115699		deleterious_low_confidence(0.01)	1,1	TMM79_HUMAN	TMEM79	HGNC	Q9BSE2	TMM79_HUMAN					2	227	+	Hepatocellular(266;0.158)		UPI000006F977	11					SNV	TMEM79,missense_variant,p.Glu11Lys,ENST00000405535,NM_032323.2;TMEM79,missense_variant,p.Glu11Lys,ENST00000295694,;TMEM79,missense_variant,p.Glu11Lys,ENST00000357501,;TMEM79,missense_variant,p.Glu11Lys,ENST00000456810,;SMG5,upstream_gene_variant,,ENST00000361813,NM_015327.2;SMG5,upstream_gene_variant,,ENST00000368267,;TMEM79,non_coding_transcript_exon_variant,,ENST00000495881,;TMEM79,non_coding_transcript_exon_variant,,ENST00000463670,;TMEM79,upstream_gene_variant,,ENST00000485135,;C1orf85,downstream_gene_variant,,ENST00000497831,;C1orf85,downstream_gene_variant,,ENST00000461597,;	uc010phi.1	c.31G>A	192/2191	2	2			c.31G>A						1	SNP	c.(31-33)GAA>AAA	43	43			central_nervous_system(1)	1	Broad	transmembrane protein 79			156255048		0.597	ENSG00000163472	15953	g.chr1:156255048G>A		integral to membrane								131.645602	KEEP	21	27	-1	43	43	21	27	-1	132.836811	43	43	0.391304	1	0	0	0	0	1	0	0	0	--	--		0	A			SMG5_uc001foc.3_5'Flank|TMEM79_uc001fod.2_5'UTR|TMEM79_uc009wrw.2_Missense_Mutation_p.E11K	57	GBM-06-0241-TP	p.E11K	G	GGCCCTACTGGAAGTGAAGAG	NM_032323	NP_115699	156255048	Q9BSE2	TMM79_HUMAN	0			2	227	+	A	A	Hepatocellular(266;0.158)		Missense_Mutation	11						
TMEM87B	84910		GRCh37	2	112865416	112865416	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000283206.4:c.1576G>A	p.Val526Ile	p.V526I	ENST00000283206	NM_032824.2	526	Gta/Ata	0																																																																																																																																																																																																																																												
TMF1	7110	broad.mit.edu	GRCh37	3	69075241	69075241	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-2559-01	TCGA-06-2559-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398559.2:c.2765A>G	p.Lys922Arg	p.K922R	ENST00000398559		922	aAg/aGg	0			1			C	K/R	uc003dnn.2	protein_coding	YES	CCDS43105.1			2765/3282										0	c.(2764-2766)AAG>AGG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF285	TATA element modulatory factor 1				ENSP00000381567		14/17									COSM3408872	14/17	.		ENST00000398559	Transcript			regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	ENSG00000144747	g.chr3:69075241T>C	11870			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=TMF1_HUMAN&rb=816&re=967&var=K922R	NA	getma.org/?cm=var&var=hg19,3,69075241,T,C&fts=all	K922R	--	--	1																																		TMF1_uc011bfx.1_Missense_Mutation_p.K925R	1	1		benign(0.016)	p.K922R	NM_007114	NP_009045		tolerated(0.32)	1	TMF1_HUMAN	TMF1	HGNC	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)			14	3012	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	UPI000013D9A7	922			Potential.		SNV	TMF1,missense_variant,p.Lys925Arg,ENST00000543976,NM_007114.2;TMF1,missense_variant,p.Lys922Arg,ENST00000398559,;CTD-2013N24.2,intron_variant,,ENST00000482368,;CTD-2013N24.2,intron_variant,,ENST00000597366,;CTD-2013N24.2,intron_variant,,ENST00000595925,;CTD-2013N24.2,intron_variant,,ENST00000597950,;CTD-2013N24.2,intron_variant,,ENST00000598783,;CTD-2013N24.2,intron_variant,,ENST00000596732,;CTD-2013N24.2,intron_variant,,ENST00000601735,;CTD-2013N24.2,intron_variant,,ENST00000599467,;CTD-2013N24.2,intron_variant,,ENST00000601511,;CTD-2013N24.2,intron_variant,,ENST00000596523,;TMF1,non_coding_transcript_exon_variant,,ENST00000489370,;TMF1,3_prime_UTR_variant,,ENST00000488010,;	uc003dnn.2	c.2765A>G	2982/6849	3	3			c.2765A>G						3	SNP	c.(2764-2766)AAG>AGG	51	51				0	Broad	TATA element modulatory factor 1			69075241		0.393	ENSG00000144747	15978	g.chr3:69075241T>C	regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity							-3.528788	KEEP	5	2	-1	48	47	5	2	-1	15.076649	48	47	0.06383	1	0	0	0	0	1	0	0	0	--	--		0	C			TMF1_uc011bfx.1_Missense_Mutation_p.K925R	83	GBM-06-2559-TP	p.K922R	T	AGAAAATGGCTTGCGTTCCTT	NM_007114	NP_009045	69075241	P82094	TMF1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	14	3012	-	C	C		Lung NSC(201;0.0193)|Prostate(884;0.174)	Missense_Mutation	922			Potential.			
TMF1	7110	broad.mit.edu	GRCh37	3	69097037	69097037	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398559.2:c.819G>A	p.Ala273=	p.A273=	ENST00000398559		273	gcG/gcA	0			1			T	A	uc003dnn.2	protein_coding	YES	CCDS43105.1			819/3282										0	c.(817-819)GCG>GCA			hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF285,Low_complexity_(Seg):seg	TATA element modulatory factor 1				ENSP00000381567		17-Feb	6.62E-05							0.000486	rs749655632,COSM1048264	17-Feb	common_variant		ENST00000398559	Transcript			regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	ENSG00000144747	g.chr3:69097037C>T	11870			LOW								--	--	1																																		TMF1_uc011bfx.1_Silent_p.A273A	0,1	1			p.A273A	NM_007114	NP_009045			0,1	TMF1_HUMAN	TMF1	HGNC	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)			2	1066	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	UPI000013D9A7	273					SNV	TMF1,synonymous_variant,p.=,ENST00000543976,NM_007114.2;TMF1,synonymous_variant,p.=,ENST00000398559,;MIR3136,downstream_gene_variant,,ENST00000583498,;CTD-2013N24.2,intron_variant,,ENST00000482368,;CTD-2013N24.2,intron_variant,,ENST00000595925,;CTD-2013N24.2,intron_variant,,ENST00000597950,;CTD-2013N24.2,intron_variant,,ENST00000598783,;CTD-2013N24.2,intron_variant,,ENST00000596732,;CTD-2013N24.2,intron_variant,,ENST00000601735,;CTD-2013N24.2,intron_variant,,ENST00000596274,;CTD-2013N24.2,intron_variant,,ENST00000596523,;TMF1,synonymous_variant,p.=,ENST00000488010,;TMF1,upstream_gene_variant,,ENST00000477872,;	uc003dnn.2	c.819G>A	1036/6849	1	1			c.819G>A						3	SNP	c.(817-819)GCG>GCA	2	2				0	Broad	TATA element modulatory factor 1			69097037		0.398	ENSG00000144747	15978	g.chr3:69097037C>T	regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity							145.251214	KEEP	20	23	-1	5	10	20	23	-1	148.314397	5	10	0.741379	1	0	0	0	0	0	0	1	0	--	--		0	T			TMF1_uc011bfx.1_Silent_p.A273A	102	GBM-06-5858-TP	p.A273A	C	GTCTCGAGCTCGCTGAGCTCT	NM_007114	NP_009045	69097037	P82094	TMF1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	2	1066	-	T	T		Lung NSC(201;0.0193)|Prostate(884;0.174)	Silent	273						
TMF1	7110		GRCh37	3	69097485	69097485	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000398559.2:c.371G>A	p.Arg124Gln	p.R124Q	ENST00000398559		124	cGa/cAa	0																																																																																																																																																																																																																																												
TMIGD2	0	broad.mit.edu	GRCh37	19	4298041	4298042	+	frameshift_variant	Frame_Shift_Del	DEL	TA	TA	-			TCGA-19-2629-01	TCGA-19-2629-01	TA	TA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301272.2:c.347_348delTA	p.Val116GlyfsTer4	p.V116Gfs*4	ENST00000301272	NM_144615.2	116	gTA/g	0			1			-	V/X	uc002lzx.1	protein_coding	YES	CCDS12126.1			347-348/849										0	c.(346-348)GTAfs			PROSITE_profiles:PS50835,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	transmembrane and immunoglobulin domain				ENSP00000301272		5-Feb										5-Feb	.		ENST00000301272	Transcript				integral to membrane		ENSG00000167664	g.chr19:4298041_4298042delTA	28324			HIGH								--	--	1																																		TMIGD2_uc010dtv.1_Frame_Shift_Del_p.V116fs		1			p.V116fs	NM_144615	NP_653216				TMIG2_HUMAN	TMIGD2	HGNC	Q96BF3	TMIG2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)			2	393_394	-			UPI000013E6F4	116			Extracellular (Potential).|Ig-like.		deletion	TMIGD2,frameshift_variant,p.Val116GlyfsTer4,ENST00000301272,NM_144615.2,NM_001169126.1;TMIGD2,frameshift_variant,p.Val116GlyfsTer4,ENST00000595645,;TMIGD2,intron_variant,,ENST00000600114,;TMIGD2,intron_variant,,ENST00000600349,;	uc002lzx.1	c.347_348delTA	393-394/1262	5	5			c.347_348delTA						19	DEL	c.(346-348)GTAfs	1	1				0	Broad	transmembrane and immunoglobulin domain			4298042		0.653	ENSG00000167664	15981	g.chr19:4298041_4298042delTA		integral to membrane																					0.26	1	1	0	1	0	0	0	0	0	--	--		0	-			TMIGD2_uc010dtv.1_Frame_Shift_Del_p.V116fs	166	GBM-19-2629-TP	p.V116fs	TA	CAGGAATCTCTACGGCCGCCCA	NM_144615	NP_653216	4298041	Q96BF3	TMIG2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	2	393_394	-	-	-			Frame_Shift_Del	116			Extracellular (Potential).|Ig-like.			
TMOD1	0	broad.mit.edu	GRCh37	9	100353675	100353675	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1825-01	TCGA-14-1825-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259365.4:c.973C>T	p.Arg325Trp	p.R325W	ENST00000259365	NM_003275.3	325	Cgg/Tgg	0			1			T	R/W	uc004axk.1	protein_coding	YES	CCDS6726.1			973/1080										0	c.(973-975)CGG>TGG			Gene3D:3.80.10.10,hmmpanther:PTHR10901,hmmpanther:PTHR10901:SF8,Superfamily_domains:SSF52047	tropomodulin 1				ENSP00000259365		10-Sep	8.24E-06	9.62E-05							rs759182804,COSM3413190	10-Sep	.		ENST00000259365	Transcript			muscle filament sliding	cytosol	actin binding	ENSG00000136842	g.chr9:100353675C>T	11871			MODERATE		3.02	medium	getma.org/?cm=msa&ty=f&p=TMOD1_HUMAN&rb=145&re=344&var=R325W	getma.org/pdb.php?prot=TMOD1_HUMAN&from=145&to=344&var=R325W	getma.org/?cm=var&var=hg19,9,100353675,C,T&fts=all	R325W	--	--	1																																		TMOD1_uc004axl.1_Missense_Mutation_p.R325W	0,1	1		possibly_damaging(0.882)	p.R325W	NM_003275	NP_003266		deleterious(0)	0,1	TMOD1_HUMAN	TMOD1	HGNC	P28289	TMOD1_HUMAN		STAD - Stomach adenocarcinoma(157;0.105)			9	1186	+		Acute lymphoblastic leukemia(62;0.154)	UPI000013707E	325					SNV	TMOD1,missense_variant,p.Arg325Trp,ENST00000259365,NM_003275.3;TMOD1,missense_variant,p.Arg325Trp,ENST00000395211,NM_001166116.1;TMOD1,missense_variant,p.Arg198Trp,ENST00000375175,;	uc004axk.1	c.973C>T	1186/3343	1	1			c.973C>T						9	SNP	c.(973-975)CGG>TGG	3	3				0	Broad	tropomodulin 1			100353675		0.512	ENSG00000136842	15983	g.chr9:100353675C>T	muscle filament sliding	cytosol	actin binding							-25.504756	KEEP	1	4	-1	76	85	1	4	-1	7.86538	76	85	0.029197	1	0	0	0	0	1	0	0	0	--	--		0	T			TMOD1_uc004axl.1_Missense_Mutation_p.R325W	148	GBM-14-1825-TP	p.R325W	C	GCAAGGACCCCGGCTTCGGGC	NM_003275	NP_003266	100353675	P28289	TMOD1_HUMAN	0		STAD - Stomach adenocarcinoma(157;0.105)	9	1186	+	T	T		Acute lymphoblastic leukemia(62;0.154)	Missense_Mutation	325						
TMOD2	0	broad.mit.edu	GRCh37	15	52075020	52075020	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-4932-01	TCGA-76-4932-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000249700.4:c.727G>C	p.Ala243Pro	p.A243P	ENST00000249700	NM_001142885.1	243	Gcc/Ccc	0			1			C	A/P	uc002abk.2	protein_coding	YES	CCDS10144.1			727/1056									ovary(2)	2	c.(727-729)GCC>CCC			hmmpanther:PTHR10901:SF17,hmmpanther:PTHR10901,Gene3D:3.80.10.10,Superfamily_domains:SSF52047	neuronal tropomodulin isoform a				ENSP00000249700		10-Jul									COSM3401815	10-Jul	.		ENST00000249700	Transcript			nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	ENSG00000128872	g.chr15:52075020G>C	11872			MODERATE		4.07	high	getma.org/?cm=msa&ty=f&p=TMOD2_HUMAN&rb=148&re=347&var=A243P	getma.org/pdb.php?prot=TMOD2_HUMAN&from=148&to=347&var=A243P	getma.org/?cm=var&var=hg19,15,52075020,G,C&fts=all	A243P	--	--	1																																		TMOD2_uc002abl.3_Intron|TMOD2_uc010bfb.2_Missense_Mutation_p.A199P	1	1		probably_damaging(0.995)	p.A243P	NM_014548	NP_055363		deleterious(0)	1	TMOD2_HUMAN	TMOD2	HGNC	Q9NZR1	TMOD2_HUMAN		all cancers(107;0.00435)	G5EA42_HUMAN		7	948	+			UPI0000137080	243					SNV	TMOD2,missense_variant,p.Ala243Pro,ENST00000249700,NM_001142885.1,NM_014548.3;TMOD2,missense_variant,p.Ala199Pro,ENST00000539962,;TMOD2,intron_variant,,ENST00000435126,;TMOD2,missense_variant,p.Ala2Pro,ENST00000561407,;TMOD2,non_coding_transcript_exon_variant,,ENST00000561300,;TMOD2,intron_variant,,ENST00000560576,;	uc002abk.2	c.727G>C	948/9191	3	3			c.727G>C						15	SNP	c.(727-729)GCC>CCC	13	13			ovary(2)	2	Broad	neuronal tropomodulin isoform a			52075020		0.398	ENSG00000128872	15984	g.chr15:52075020G>C	nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding							351.146579	KEEP	44	59	-1	72	76	44	59	-1	352.191618	72	76	0.427313	1	0	0	0	0	1	0	0	0	--	--		0	C			TMOD2_uc002abl.3_Intron|TMOD2_uc010bfb.2_Missense_Mutation_p.A199P	271	GBM-76-4932-TP	p.A243P	G	TGACCCTGTGGCCATTGTGAG	NM_014548	NP_055363	52075020	Q9NZR1	TMOD2_HUMAN	0		all cancers(107;0.00435)	7	948	+	C	C			Missense_Mutation	243						
TMOD3	29766	broad.mit.edu	GRCh37	15	52155124	52155124	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0211-01	TCGA-06-0211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308580.7:c.43C>A	p.Leu15Ile	p.L15I	ENST00000308580	NM_014547.4	15	Ctt/Att	0			1			A	L/I	uc002abm.2	protein_coding	YES	CCDS10145.1			43/1059									ovary(1)	1	c.(43-45)CTT>ATT			Low_complexity_(Seg):seg,Pfam_domain:PF03250,hmmpanther:PTHR10901:SF15,hmmpanther:PTHR10901	tropomodulin 3 (ubiquitous)				ENSP00000308753		10-Feb									COSM2150748	10-Feb	.		ENST00000308580	Transcript				cytoplasm|cytoskeleton	actin binding|tropomyosin binding	ENSG00000138594	g.chr15:52155124C>A	11873			MODERATE		-0.785	neutral	getma.org/?cm=msa&ty=f&p=TMOD3_HUMAN&rb=1&re=147&var=L15I	NA	getma.org/?cm=var&var=hg19,15,52155124,C,A&fts=all	L15I	--	--	1																																			1	1		benign(0.162)	p.L15I	NM_014547	NP_055362		tolerated(1)	1	TMOD3_HUMAN	TMOD3	HGNC	Q9NYL9	TMOD3_HUMAN		all cancers(107;0.00194)	H0YNU8_HUMAN,H0YNJ8_HUMAN		2	262	+			UPI0000137082	15					SNV	TMOD3,missense_variant,p.Leu15Ile,ENST00000308580,NM_014547.4;TMOD3,missense_variant,p.Leu15Ile,ENST00000544199,;TMOD3,missense_variant,p.Leu15Ile,ENST00000558455,;RP11-56B16.1,upstream_gene_variant,,ENST00000560291,;	uc002abm.2	c.43C>A	324/4668	2	2			c.43C>A						15	SNP	c.(43-45)CTT>ATT	29	29			ovary(1)	1	Broad	tropomodulin 3 (ubiquitous)			52155124		0.443	ENSG00000138594	15985	g.chr15:52155124C>A		cytoplasm|cytoskeleton	actin binding|tropomyosin binding	Colon(122;1837 2251 18387 22826)			Colon(122;1837 2251 18387 22826)			192.271468	KEEP	37	36	0.493150685	52	37	37	36	0.493150685	192.615488	52	37	0.447552	1	0	0	0	0	1	0	0	0	--	--		0	A				48	GBM-06-0211-TP	p.L15I	C	GTACAAAGACCTTGATGAAGA	NM_014547	NP_055362	52155124	Q9NYL9	TMOD3_HUMAN	0		all cancers(107;0.00194)	2	262	+	A	A			Missense_Mutation	15						
TMPPE	643853	broad.mit.edu	GRCh37	3	33134390	33134390	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-2559-01	TCGA-06-2559-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342462.4:c.1298G>T	p.Gly433Val	p.G433V	ENST00000342462	NM_001039770.2	433	gGg/gTg	0			1			A	G/V	uc003cfk.2	protein_coding	YES	CCDS33732.1			1298/1362										0	c.(1297-1299)GGG>GTG			hmmpanther:PTHR31302,hmmpanther:PTHR31302:SF0,Superfamily_domains:SSF56300	transmembrane protein with				ENSP00000343398		2-Feb									COSM2152668	2-Feb	.		ENST00000342462	Transcript				integral to membrane	metal ion binding	ENSG00000188167	g.chr3:33134390C>A	33865			MODERATE		2.6	medium	getma.org/?cm=msa&ty=f&p=TMPPE_HUMAN&rb=396&re=453&var=G433V	NA	getma.org/?cm=var&var=hg19,3,33134390,C,A&fts=all	G433V	--	--	1																																		GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Missense_Mutation_p.G296V	1	1		probably_damaging(0.997)	p.G433V	NM_001039770	NP_001034859		deleterious(0)	1	TMPPE_HUMAN	TMPPE	HGNC	Q6ZT21	TMPPE_HUMAN					2	1489	-			UPI000022BF97	433					SNV	TMPPE,missense_variant,p.Gly433Val,ENST00000342462,NM_001039770.2;TMPPE,missense_variant,p.Gly296Val,ENST00000416695,NM_001136238.1;GLB1,intron_variant,,ENST00000307363,NM_000404.2;GLB1,intron_variant,,ENST00000445488,;GLB1,intron_variant,,ENST00000399402,NM_001079811.1;GLB1,intron_variant,,ENST00000307377,NM_001135602.1;GLB1,intron_variant,,ENST00000440656,;GLB1,intron_variant,,ENST00000415454,;GLB1,intron_variant,,ENST00000436768,;GLB1,intron_variant,,ENST00000450835,;GLB1,intron_variant,,ENST00000498537,;GLB1,intron_variant,,ENST00000464355,;GLB1,intron_variant,,ENST00000485698,;GLB1,intron_variant,,ENST00000482097,;GLB1,intron_variant,,ENST00000438227,;	uc003cfk.2	c.1298G>T	1489/3962	2	2			c.1298G>T						3	SNP	c.(1297-1299)GGG>GTG	48	48				0	Broad	transmembrane protein with			33134390		0.592	ENSG00000188167	15988	g.chr3:33134390C>A		integral to membrane	metal ion binding							73.49169	KEEP	12	13	0.52	22	16	12	13	0.52	73.68594	22	16	0.436364	1	0	0	0	0	1	0	0	0	--	--		0	A			GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Missense_Mutation_p.G296V	83	GBM-06-2559-TP	p.G433V	C	CATGGGTATCCCGTAGTAGGC	NM_001039770	NP_001034859	33134390	Q6ZT21	TMPPE_HUMAN	0			2	1489	-	A	A			Missense_Mutation	433						
TMPRSS11A	339967	broad.mit.edu	GRCh37	4	68784796	68784796	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0128-01	TCGA-06-0128-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334830.7:c.856A>C	p.Thr286Pro	p.T286P	ENST00000334830		286	Acc/Ccc	0			1			G	T/P	uc003hdr.1	protein_coding	YES	CCDS3519.1			856/1266									skin(1)	1	c.(856-858)ACC>CCC			Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF037941,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF37,SMART_domains:SM00020,Superfamily_domains:SSF50494	transmembrane protease, serine 11A isoform 1				ENSP00000334611		10-Aug									COSM3748272	10-Aug	.		ENST00000334830	Transcript			cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	ENSG00000187054	g.chr4:68784796T>G	27954			MODERATE		0.035	neutral	getma.org/?cm=msa&ty=f&p=TM11A_HUMAN&rb=190&re=415&var=T286P	getma.org/pdb.php?prot=TM11A_HUMAN&from=190&to=415&var=T286P	getma.org/?cm=var&var=hg19,4,68784796,T,G&fts=all	T286P	--	--	1																																		LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.T283P	1	1		benign(0.019)	p.T286P	NM_182606	NP_872412		tolerated(0.28)	1	TM11A_HUMAN	TMPRSS11A	HGNC	Q6ZMR5	TM11A_HUMAN					8	977	-			UPI0000457217	286			Peptidase S1.|Extracellular (Potential).		SNV	TMPRSS11A,missense_variant,p.Thr282Pro,ENST00000508048,;TMPRSS11A,missense_variant,p.Thr286Pro,ENST00000334830,;TMPRSS11A,missense_variant,p.Thr283Pro,ENST00000396188,NM_182606.3,NM_001114387.1;TMPRSS11A,missense_variant,p.Thr250Pro,ENST00000513536,;UBA6-AS1,intron_variant,,ENST00000500538,;	uc003hdr.1	c.856A>C	1603/3054	4	4			c.856A>C						4	SNP	c.(856-858)ACC>CCC	21	21			skin(1)	1	Broad	transmembrane protease, serine 11A isoform 1			68784796		0.433	ENSG00000187054	15989	g.chr4:68784796T>G	cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	NSCLC(26;2 894 10941 14480 22546)			NSCLC(26;2 894 10941 14480 22546)			42.970756	KEEP	12	17	-1	105	95	12	17	-1	73.166446	105	95	0.124424	1	0	0	0	0	1	0	0	0	--	--		0	G			LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.T283P	14	GBM-06-0128-TP	p.T286P	T	TCCGAAAAGGTGACTCTGGAA	NM_182606	NP_872412	68784796	Q6ZMR5	TM11A_HUMAN	0			8	977	-	G	G			Missense_Mutation	286			Peptidase S1.|Extracellular (Potential).			
TMPRSS11A	339967	broad.mit.edu	GRCh37	4	68784698	68784698	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0188-01	TCGA-06-0188-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334830.7:c.954del	p.Tyr319MetfsTer14	p.Y319Mfs*14	ENST00000334830		318	taC/ta	0			1			-	Y/X	uc003hdr.1	protein_coding	YES	CCDS3519.1			954/1266									skin(1)	1	c.(952-954)TACfs			Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF037941,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF37,SMART_domains:SM00020,Superfamily_domains:SSF50494	transmembrane protease, serine 11A isoform 1				ENSP00000334611		10-Aug									COSM2150586	10-Aug	.		ENST00000334830	Transcript			cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	ENSG00000187054	g.chr4:68784698delG	27954			HIGH								--	--	1																																		LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Frame_Shift_Del_p.Y315fs	1	1			p.Y318fs	NM_182606	NP_872412			1	TM11A_HUMAN	TMPRSS11A	HGNC	Q6ZMR5	TM11A_HUMAN					8	1075	-			UPI0000457217	318			Peptidase S1.|Extracellular (Potential).		deletion	TMPRSS11A,frameshift_variant,p.Tyr315MetfsTer14,ENST00000508048,;TMPRSS11A,frameshift_variant,p.Tyr319MetfsTer14,ENST00000334830,;TMPRSS11A,frameshift_variant,p.Tyr316MetfsTer14,ENST00000396188,NM_182606.3,NM_001114387.1;TMPRSS11A,frameshift_variant,p.Tyr283MetfsTer14,ENST00000513536,;UBA6-AS1,intron_variant,,ENST00000500538,;	uc003hdr.1	c.954delC	1701/3054	5	5			c.954delC						4	DEL	c.(952-954)TACfs	46	46			skin(1)	1	Broad	transmembrane protease, serine 11A isoform 1			68784698		0.453	ENSG00000187054	15989	g.chr4:68784698delG	cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	NSCLC(26;2 894 10941 14480 22546)			NSCLC(26;2 894 10941 14480 22546)																0.42	1	1	0	1	0	0	0	0	0	--	--		0	-			LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Frame_Shift_Del_p.Y315fs	41	GBM-06-0188-TP	p.Y318fs	G	CACCACCATAGTAAAGTGCTC	NM_182606	NP_872412	68784698	Q6ZMR5	TM11A_HUMAN	0			8	1075	-	-	-			Frame_Shift_Del	318			Peptidase S1.|Extracellular (Potential).			
TMPRSS11F	389208	broad.mit.edu	GRCh37	4	68964683	68964683	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs140054355	byFrequency	TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356291.2:c.85C>T	p.Arg29Trp	p.R29W	ENST00000356291	NM_207407.2	29	Cgg/Tgg	0	A:0.0002	A:0.0008	1	A:0.0029		A	R/W	uc003hdt.1	protein_coding	YES	CCDS3520.1			85/1317									ovary(1)	1	c.(85-87)CGG>TGG			hmmpanther:PTHR24256:SF64,hmmpanther:PTHR24256,PIRSF_domain:PIRSF037941	transmembrane protease, serine 11F		A:0	A:0.0009	ENSP00000348639	A:0.002	10-Feb	0.000947	0.000481	0.00131	0.000116	0.000303	0.00116		0.000909	rs140054355,COSM3409412	10-Feb	common_variant		ENST00000356291	Transcript		A:0.0010	proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	ENSG00000198092	g.chr4:68964683G>A	29994			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TM11F_HUMAN&rb=5&re=42&var=R29W	NA	getma.org/?cm=var&var=hg19,4,68964683,G,A&fts=all	R29W	--	--	1																																			0,1	1		possibly_damaging(0.849)	p.R29W	NM_207407	NP_997290	A:0	deleterious(0.02)	0,1	TM11F_HUMAN	TMPRSS11F	HGNC	Q6ZWK6	TM11F_HUMAN					2	134	-			UPI0000251DE7	29			Cytoplasmic (Potential).		SNV	TMPRSS11F,missense_variant,p.Arg29Trp,ENST00000356291,NM_207407.2;	uc003hdt.1	c.85C>T	145/2088	2	2			c.85C>T						4	SNP	c.(85-87)CGG>TGG	41	41			ovary(1)	1	Broad	transmembrane protease, serine 11F			68964683		0.378	ENSG00000198092	15993	g.chr4:68964683G>A	proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity							172.429371	KEEP	24	29	-1	10	9	24	29	-1	176.170356	10	9	0.742857	1	0	0	0	0	1	0	0	0	--	--		0	A				102	GBM-06-5858-TP	p.R29W	G	AGAGCTAGCCGTACTGAGTCC	NM_207407	NP_997290	68964683	Q6ZWK6	TM11F_HUMAN	0			2	134	-	A	A			Missense_Mutation	29			Cytoplasmic (Potential).			
TMPRSS11F	0	broad.mit.edu	GRCh37	4	68934340	68934340	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-5959-01	TCGA-19-5959-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356291.2:c.751T>C	p.Trp251Arg	p.W251R	ENST00000356291	NM_207407.2	251	Tgg/Cgg	0			1			G	W/R	uc003hdt.1	protein_coding	YES	CCDS3520.1			751/1317									ovary(1)	1	c.(751-753)TGG>CGG			PROSITE_profiles:PS50240,hmmpanther:PTHR24256:SF64,hmmpanther:PTHR24256,Pfam_domain:PF00089,Gene3D:2.40.10.10,PIRSF_domain:PIRSF037941,SMART_domains:SM00020,Superfamily_domains:SSF50494	transmembrane protease, serine 11F				ENSP00000348639		10-Jul									COSM3409411	10-Jul	.		ENST00000356291	Transcript			proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	ENSG00000198092	g.chr4:68934340A>G	29994			MODERATE		-1.515	neutral	getma.org/?cm=msa&ty=f&p=TM11F_HUMAN&rb=206&re=432&var=W251R	getma.org/pdb.php?prot=TM11F_HUMAN&from=206&to=432&var=W251R	getma.org/?cm=var&var=hg19,4,68934340,A,G&fts=all	W251R	--	--	1																																		LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron	1	1		benign(0.002)	p.W251R	NM_207407	NP_997290		tolerated(1)	1	TM11F_HUMAN	TMPRSS11F	HGNC	Q6ZWK6	TM11F_HUMAN					7	800	-			UPI0000251DE7	251			Peptidase S1.|Extracellular (Potential).		SNV	TMPRSS11F,missense_variant,p.Trp251Arg,ENST00000356291,NM_207407.2;UBA6-AS1,intron_variant,,ENST00000500538,;UBA6-AS1,intron_variant,,ENST00000511571,;UBA6-AS1,intron_variant,,ENST00000499180,;	uc003hdt.1	c.751T>C	811/2088	3	3			c.751T>C						4	SNP	c.(751-753)TGG>CGG	61	61			ovary(1)	1	Broad	transmembrane protease, serine 11F			68934340		0.522	ENSG00000198092	15993	g.chr4:68934340A>G	proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity							58.594025	KEEP	10	11	-1	10	12	10	11	-1	58.594025	10	12	0.5	1	0	0	0	0	1	0	0	0	--	--		0	G			LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron	177	GBM-19-5959-TP	p.W251R	A	ACTTACTTCCAAAAGCAGTGA	NM_207407	NP_997290	68934340	Q6ZWK6	TM11F_HUMAN	0			7	800	-	G	G			Missense_Mutation	251			Peptidase S1.|Extracellular (Potential).			
TMPRSS13	0	broad.mit.edu	GRCh37	11	117789400	117789400	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01	TCGA-76-4928-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000524993.1:c.175G>A	p.Ala59Thr	p.A59T	ENST00000524993	NM_001077263.2	59	Gca/Aca	0			1			T	A/T	uc001prs.1	protein_coding	YES	CCDS41721.1			175/1704									pancreas(1)	1	c.(175-177)GCA>ACA			PIRSF_domain:PIRSF037935	transmembrane protease, serine 13				ENSP00000434279		13-Feb									COSM3397436,COSM3397437	13-Feb	.		ENST00000524993	Transcript			proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	ENSG00000137747	g.chr11:117789400C>T	29808			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=TMPSD_HUMAN&rb=1&re=104&var=A59T	NA	getma.org/?cm=var&var=hg19,11,117789400,C,T&fts=all	A59T	--	--	1																																		TMPRSS13_uc009yzr.1_5'UTR|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.1_Missense_Mutation_p.A59T	1,1	1		possibly_damaging(0.682)	p.A59T	NM_001077263	NP_001070731		tolerated_low_confidence(0.12)	1,1		TMPRSS13	HGNC	Q9BYE2	TMPSD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)	Q1RMF8_HUMAN,E9PRA0_HUMAN		2	268	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	UPI0000E5923F	59			4 X 5 AA repeats of T-P-P-G-R.|1-8.|12 X 5 AA repeats of A-S-P-A-[GLQR].|Cytoplasmic (Potential).|Ala-rich.		SNV	TMPRSS13,missense_variant,p.Ala59Thr,ENST00000528626,NM_001206789.1;TMPRSS13,missense_variant,p.Ala59Thr,ENST00000526090,NM_001206790.1;TMPRSS13,missense_variant,p.Ala59Thr,ENST00000445164,;TMPRSS13,missense_variant,p.Ala59Thr,ENST00000430170,NM_001244995.1;TMPRSS13,missense_variant,p.Ala59Thr,ENST00000524993,NM_001077263.2;TMPRSS13,non_coding_transcript_exon_variant,,ENST00000525794,;TMPRSS13,intron_variant,,ENST00000528135,;	uc001prs.1	c.175G>A	233/1950	1	1			c.175G>A						11	SNP	c.(175-177)GCA>ACA	5	5			pancreas(1)	1	Broad	transmembrane protease, serine 13			117789400		0.697	ENSG00000137747	15995	g.chr11:117789400C>T	proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity							48.084635	KEEP	11	14	-1	49	36	11	14	-1	53.461766	49	36	0.244444	1	0	0	0	0	1	0	0	0	--	--		0	T			TMPRSS13_uc009yzr.1_5'UTR|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.1_Missense_Mutation_p.A59T	268	GBM-76-4928-TP	p.A59T	C	GCTGGAGATGCCTGGGCTGGA	NM_001077263	NP_001070731	117789400	Q9BYE2	TMPSD_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)	2	268	-	T	T	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	Missense_Mutation	59			4 X 5 AA repeats of T-P-P-G-R.|1-8.|12 X 5 AA repeats of A-S-P-A-[GLQR].|Cytoplasmic (Potential).|Ala-rich.			
TMPRSS15	5651	broad.mit.edu	GRCh37	21	19744570	19744570	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0645-01	TCGA-06-0645-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284885.3:c.604T>A	p.Leu202Ile	p.L202I	ENST00000284885	NM_002772.2	202	Tta/Ata	0			1			T	L/I	uc002ykw.2	protein_coding	YES	CCDS13571.1			604/3060									ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8	c.(604-606)TTA>ATA			PROSITE_profiles:PS50068,PROSITE_patterns:PS01209,Gene3D:4.10.400.10,SMART_domains:SM00192,Superfamily_domains:SSF57424	enterokinase precursor				ENSP00000284885		25-Jun									COSM2151260	25-Jun	.		ENST00000284885	Transcript	1		proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	ENSG00000154646	g.chr21:19744570A>T	9490			MODERATE		2.92	medium	getma.org/?cm=msa&ty=f&p=ENTK_HUMAN&rb=182&re=223&var=L202I	getma.org/pdb.php?prot=ENTK_HUMAN&from=182&to=223&var=L202I	getma.org/?cm=var&var=hg19,21,19744570,A,T&fts=all	L202I	--	--	1																																			1	1		benign(0.272)	p.L202I	NM_002772	NP_002763		tolerated(0.13)	1	ENTK_HUMAN	TMPRSS15	HGNC	P98073	ENTK_HUMAN			Q9NR95_HUMAN		6	635	-			UPI000013DDBE	202			Extracellular (Potential).|LDL-receptor class A 1.		SNV	TMPRSS15,missense_variant,p.Leu202Ile,ENST00000284885,NM_002772.2;TMPRSS15,missense_variant,p.Leu172Ile,ENST00000422787,;TMPRSS15,5_prime_UTR_variant,,ENST00000474775,;	uc002ykw.2	c.604T>A	638/3947	1	1			c.604T>A						21	SNP	c.(604-606)TTA>ATA	16	16			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8	Broad	enterokinase precursor			19744570		0.383	ENSG00000154646	15996	g.chr21:19744570A>T	proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity							48.725698	KEEP	10	14	-1	44	35	10	14	-1	54.586879	44	35	0.233333	1	0	0	0	0	1	0	0	0	--	--		0	T				59	GBM-06-0645-TP	p.L202I	A	TCACAAAATAAATCAGCTTTT	NM_002772	NP_002763	19744570	P98073	ENTK_HUMAN	0			6	635	-	T	T			Missense_Mutation	202			Extracellular (Potential).|LDL-receptor class A 1.			
TMPRSS15	0	broad.mit.edu	GRCh37	21	19651292	19651292	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-19-2631-01	TCGA-19-2631-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284885.3:c.2753T>A	p.Val918Asp	p.V918D	ENST00000284885	NM_002772.2	918	gTt/gAt	0			1			T	V/D	uc002ykw.2	protein_coding	YES	CCDS13571.1			2753/3060									ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8	c.(2752-2754)GTT>GAT			PROSITE_profiles:PS50240,hmmpanther:PTHR24256:SF93,hmmpanther:PTHR24256,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	enterokinase precursor				ENSP00000284885		23/25									COSM3405325	23/25	.		ENST00000284885	Transcript	1		proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	ENSG00000154646	g.chr21:19651292A>T	9490			MODERATE		1.14	low	getma.org/?cm=msa&ty=f&p=ENTK_HUMAN&rb=785&re=1014&var=V918D	getma.org/pdb.php?prot=ENTK_HUMAN&from=785&to=1014&var=V918D	getma.org/?cm=var&var=hg19,21,19651292,A,T&fts=all	V918D	--	--	1																																			1	1		benign(0.001)	p.V918D	NM_002772	NP_002763		tolerated(0.49)	1	ENTK_HUMAN	TMPRSS15	HGNC	P98073	ENTK_HUMAN			Q9NR95_HUMAN		23	2784	-			UPI000013DDBE	918			Extracellular (Potential).|Peptidase S1.		SNV	TMPRSS15,missense_variant,p.Val918Asp,ENST00000284885,NM_002772.2;	uc002ykw.2	c.2753T>A	2787/3947	2	2			c.2753T>A						21	SNP	c.(2752-2754)GTT>GAT	24	24			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8	Broad	enterokinase precursor			19651292		0.328	ENSG00000154646	15996	g.chr21:19651292A>T	proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity							16.84468	KEEP	4	2	-1	8	4	4	2	-1	17.168984	8	4	0.352941	1	0	0	0	0	1	0	0	0	--	--		0	T				167	GBM-19-2631-TP	p.V918D	A	TTGATATACAACCGTCCCCCA	NM_002772	NP_002763	19651292	P98073	ENTK_HUMAN	0			23	2784	-	T	T			Missense_Mutation	918			Extracellular (Potential).|Peptidase S1.			
TMPRSS15	0	broad.mit.edu	GRCh37	21	19713765	19713765	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-28-5219-01	TCGA-28-5219-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284885.3:c.1529C>G	p.Pro510Arg	p.P510R	ENST00000284885	NM_002772.2	510	cCa/cGa	0		A:0	1	A:0		C	P/R	uc002ykw.2	protein_coding	YES	CCDS13571.1			1529/3060									ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8	c.(1528-1530)CCA>CGA			Low_complexity_(Seg):seg,hmmpanther:PTHR24256:SF93,hmmpanther:PTHR24256	enterokinase precursor		A:0		ENSP00000284885	A:0	13/25	4.94E-05					8.99E-05			rs202066879,COSM3405327	13/25	.		ENST00000284885	Transcript	1	A:0.0004	proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	ENSG00000154646	g.chr21:19713765G>C	9490			MODERATE		2.295	medium	getma.org/?cm=msa&ty=f&p=ENTK_HUMAN&rb=475&re=553&var=P510R	NA	getma.org/?cm=var&var=hg19,21,19713765,G,C&fts=all	P510R	--	--	1																																			0,1	1		probably_damaging(1)	p.P510R	NM_002772	NP_002763	A:0.002	deleterious(0)	0,1	ENTK_HUMAN	TMPRSS15	HGNC	P98073	ENTK_HUMAN			Q9NR95_HUMAN		13	1560	-			UPI000013DDBE	510			Extracellular (Potential).		SNV	TMPRSS15,missense_variant,p.Pro510Arg,ENST00000284885,NM_002772.2;	uc002ykw.2	c.1529C>G	1563/3947	4	4			c.1529C>G						21	SNP	c.(1528-1530)CCA>CGA	45	45			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8	Broad	enterokinase precursor			19713765		0.328	ENSG00000154646	15996	g.chr21:19713765G>C	proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity							382.956078	KEEP	41	72	-1	32	27	41	72	-1	386.623892	32	27	0.66242	1	0	0	0	0	1	0	0	0	--	--		0	C				225	GBM-28-5219-TP	p.P510R	G	CACCAAAGTTGGTTCTGGATA	NM_002772	NP_002763	19713765	P98073	ENTK_HUMAN	0			13	1560	-	C	C			Missense_Mutation	510			Extracellular (Potential).			
TMPRSS15	0	broad.mit.edu	GRCh37	21	19698772	19698772	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-4925-01	TCGA-76-4925-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284885.3:c.1898C>A	p.Thr633Asn	p.T633N	ENST00000284885	NM_002772.2	633	aCt/aAt	0			1			T	T/N	uc002ykw.2	protein_coding	YES	CCDS13571.1			1898/3060									ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8	c.(1897-1899)ACT>AAT			PROSITE_profiles:PS01180,hmmpanther:PTHR24256:SF93,hmmpanther:PTHR24256,SMART_domains:SM00042,Superfamily_domains:SSF49854	enterokinase precursor				ENSP00000284885		16/25									COSM3405326	16/25	.		ENST00000284885	Transcript	1		proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	ENSG00000154646	g.chr21:19698772G>T	9490			MODERATE		2.64	medium	getma.org/?cm=msa&ty=f&p=ENTK_HUMAN&rb=524&re=634&var=T633N	getma.org/pdb.php?prot=ENTK_HUMAN&from=524&to=634&var=T633N	getma.org/?cm=var&var=hg19,21,19698772,G,T&fts=all	T633N	--	--	1																																			1	1		possibly_damaging(0.616)	p.T633N	NM_002772	NP_002763		deleterious(0)	1	ENTK_HUMAN	TMPRSS15	HGNC	P98073	ENTK_HUMAN			Q9NR95_HUMAN		16	1929	-			UPI000013DDBE	633			Extracellular (Potential).|CUB 2.		SNV	TMPRSS15,missense_variant,p.Thr633Asn,ENST00000284885,NM_002772.2;	uc002ykw.2	c.1898C>A	1932/3947	1	1			c.1898C>A						21	SNP	c.(1897-1899)ACT>AAT	16	16			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8	Broad	enterokinase precursor			19698772		0.438	ENSG00000154646	15996	g.chr21:19698772G>T	proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity							-30.083305	KEEP	4	3	0.571428571	96	96	4	3	0.571428571	10.434583	96	96	0.02994	1	0	0	0	0	1	0	0	0	--	--		0	T				265	GBM-76-4925-TP	p.T633N	G	GTGATAGCCAGTAGTAAAGTT	NM_002772	NP_002763	19698772	P98073	ENTK_HUMAN	0			16	1929	-	T	T			Missense_Mutation	633			Extracellular (Potential).|CUB 2.			
TMPRSS15	5651		GRCh37	21	19687506	19687506	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000284885.3:c.1989C>T	p.Asp663=	p.D663=	ENST00000284885	NM_002772.2	663	gaC/gaT	0																																																																																																																																																																																																																																												
TMPRSS15	5651		GRCh37	21	19642347	19642347	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000284885.3:c.2999G>A	p.Arg1000His	p.R1000H	ENST00000284885	NM_002772.2	1000	cGc/cAc	0																																																																																																																																																																																																																																												
TMPRSS2	7113	broad.mit.edu	GRCh37	21	42842599	42842599	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01	TCGA-06-0169-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398585.3:c.1258G>A	p.Gly420Arg	p.G420R	ENST00000398585	NM_001135099.1	420	Ggg/Agg	0			1			T	G/R	uc002yzj.2	protein_coding		CCDS33564.1			1147/1479	T		ERG|ETV1|ETV4|ETV5		prostate		TMPRSS2/ERG(2499)|TMPRSS2/ETV1(24)		prostate(2523)|central_nervous_system(1)	2524	c.(1147-1149)GGG>AGG			Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF94,SMART_domains:SM00020,Superfamily_domains:SSF50494	transmembrane protease, serine 2 isoform 2				ENSP00000330330		14-Nov	8.24E-06							6.11E-05	rs755712060,COSM2150260,COSM2150261	14-Nov	.		ENST00000332149	Transcript			proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	ENSG00000184012	g.chr21:42842599C>T	11876			MODERATE		4.235	high	getma.org/?cm=msa&ty=f&p=TMPS2_HUMAN&rb=256&re=484&var=G383R	getma.org/pdb.php?prot=TMPS2_HUMAN&from=256&to=484&var=G383R	getma.org/?cm=var&var=hg19,21,42842599,C,T&fts=all	G383R	--	--	1																																		TMPRSS2_uc010gor.2_Missense_Mutation_p.G420R|TMPRSS2_uc010gos.1_Missense_Mutation_p.G383R	0,1,1			probably_damaging(1)	p.G383R	NM_005656	NP_005647		deleterious(0)	0,1,1	TMPS2_HUMAN	TMPRSS2	HGNC	O15393	TMPS2_HUMAN			C9JKZ3_HUMAN,C9JB05_HUMAN		11	1281	-		Prostate(19;4.48e-07)|all_epithelial(19;0.031)	UPI0000049921	383			Peptidase S1.|Extracellular (Potential).		SNV	TMPRSS2,missense_variant,p.Gly420Arg,ENST00000398585,NM_001135099.1;TMPRSS2,missense_variant,p.Gly383Arg,ENST00000332149,NM_005656.3;TMPRSS2,missense_variant,p.Gly383Arg,ENST00000454499,;TMPRSS2,missense_variant,p.Gly383Arg,ENST00000458356,;TMPRSS2,downstream_gene_variant,,ENST00000424093,;TMPRSS2,upstream_gene_variant,,ENST00000488556,;TMPRSS2,upstream_gene_variant,,ENST00000469395,;	uc002yzj.2	c.1147G>A	1282/3205	2	2			c.1147G>A	T		ERG|ETV1|ETV4|ETV5		prostate	21	SNP	c.(1147-1149)GGG>AGG	34	34	TMPRSS2/ERG(2499)|TMPRSS2/ETV1(24)		prostate(2523)|central_nervous_system(1)	2524	Broad	transmembrane protease, serine 2 isoform 2			42842599		0.488	ENSG00000184012	15997	g.chr21:42842599C>T	proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			848			848	29.804846	KEEP	6	7	-1	21	17	6	7	-1	32.130039	21	17	0.255814	1	0	0	0	0	1	0	0	0	--	--		0	T			TMPRSS2_uc010gor.2_Missense_Mutation_p.G420R|TMPRSS2_uc010gos.1_Missense_Mutation_p.G383R	34	GBM-06-0169-TP	p.G383R	C	GCCCCCCACCCGGAAATCCAG	NM_005656	NP_005647	42842599	O15393	TMPS2_HUMAN	0			11	1281	-	T	T		Prostate(19;4.48e-07)|all_epithelial(19;0.031)	Missense_Mutation	383			Peptidase S1.|Extracellular (Potential).			
TMPRSS4	0	broad.mit.edu	GRCh37	11	117985881	117985881	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-5299-01	TCGA-12-5299-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000437212.3:c.1038G>A	p.Ala346=	p.A346=	ENST00000437212		346	gcG/gcA	0			1			A	A	uc010rxo.1	protein_coding	YES	CCDS31684.1			1038/1314									large_intestine(1)|central_nervous_system(1)	2	c.(1036-1038)GCG>GCA			Superfamily_domains:SSF50494,SMART_domains:SM00020,Pfam_domain:PF00089,Gene3D:2.40.10.10,hmmpanther:PTHR24275:SF50,PROSITE_profiles:PS50240,hmmpanther:PTHR24275	transmembrane protease, serine 4 isoform 1				ENSP00000416037		13-Nov	5.77E-05			0.00027				0.000393	rs764161015,COSM3397440	13-Nov	.		ENST00000437212	Transcript	1		proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	ENSG00000137648	g.chr11:117985881G>A	11878			LOW								--	--	1																																		TMPRSS4_uc010rxp.1_Silent_p.A341A|TMPRSS4_uc010rxq.1_Silent_p.A199A|TMPRSS4_uc010rxr.1_Silent_p.A321A|TMPRSS4_uc010rxs.1_Silent_p.A306A|TMPRSS4_uc009yzu.2_Intron|TMPRSS4_uc010rxt.1_Silent_p.A321A	0,1	1			p.A346A	NM_019894	NP_063947			0,1	TMPS4_HUMAN	TMPRSS4	HGNC	Q9NRS4	TMPS4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)			11	1329	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)	UPI00001FA467	346			Extracellular (Potential).|Peptidase S1.		SNV	TMPRSS4,synonymous_variant,p.=,ENST00000534111,NM_019894.3,NM_001173551.1,NM_001083947.1;TMPRSS4,synonymous_variant,p.=,ENST00000437212,;TMPRSS4,synonymous_variant,p.=,ENST00000522824,;TMPRSS4,synonymous_variant,p.=,ENST00000523251,NM_001173552.1;TMPRSS4,synonymous_variant,p.=,ENST00000522307,;TMPRSS4,intron_variant,,ENST00000524218,;TMPRSS4,downstream_gene_variant,,ENST00000522151,;TMPRSS4,intron_variant,,ENST00000518413,;TMPRSS4,3_prime_UTR_variant,,ENST00000517483,;TMPRSS4,non_coding_transcript_exon_variant,,ENST00000528118,;TMPRSS4,non_coding_transcript_exon_variant,,ENST00000523770,;TMPRSS4,intron_variant,,ENST00000519236,;TMPRSS4,downstream_gene_variant,,ENST00000518610,;	uc010rxo.1	c.1038G>A	1252/2074	2	2			c.1038G>A						11	SNP	c.(1036-1038)GCG>GCA	30	30			large_intestine(1)|central_nervous_system(1)	2	Broad	transmembrane protease, serine 4 isoform 1			117985881		0.552	ENSG00000137648	15999	g.chr11:117985881G>A	proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity							42.14238	KEEP	10	7	-1	10	7	10	7	-1	42.14238	10	7	0.5	1	0	0	0	0	0	0	1	0	--	--		0	A			TMPRSS4_uc010rxp.1_Silent_p.A341A|TMPRSS4_uc010rxq.1_Silent_p.A199A|TMPRSS4_uc010rxr.1_Silent_p.A321A|TMPRSS4_uc010rxs.1_Silent_p.A306A|TMPRSS4_uc009yzu.2_Intron|TMPRSS4_uc010rxt.1_Silent_p.A321A	130	GBM-12-5299-TP	p.A346A	G	TGCTGCAGGCGTCAGTCCAGG	NM_019894	NP_063947	117985881	Q9NRS4	TMPS4_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)	11	1329	+	A	A	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)	Silent	346			Extracellular (Potential).|Peptidase S1.			
TMPRSS4	0	broad.mit.edu	GRCh37	11	117985881	117985881	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0789-01	TCGA-14-0789-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000437212.3:c.1038G>A	p.Ala346=	p.A346=	ENST00000437212		346	gcG/gcA	0			1			A	A	uc010rxo.1	protein_coding	YES	CCDS31684.1			1038/1314									large_intestine(1)|central_nervous_system(1)	2	c.(1036-1038)GCG>GCA			Superfamily_domains:SSF50494,SMART_domains:SM00020,Pfam_domain:PF00089,Gene3D:2.40.10.10,hmmpanther:PTHR24275:SF50,PROSITE_profiles:PS50240,hmmpanther:PTHR24275	transmembrane protease, serine 4 isoform 1				ENSP00000416037		13-Nov	5.77E-05			0.00027				0.000393	rs764161015,COSM3397440	13-Nov	.		ENST00000437212	Transcript	1		proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	ENSG00000137648	g.chr11:117985881G>A	11878			LOW								--	--	1																																		TMPRSS4_uc010rxp.1_Silent_p.A341A|TMPRSS4_uc010rxq.1_Silent_p.A199A|TMPRSS4_uc010rxr.1_Silent_p.A321A|TMPRSS4_uc010rxs.1_Silent_p.A306A|TMPRSS4_uc009yzu.2_Intron|TMPRSS4_uc010rxt.1_Silent_p.A321A	0,1	1			p.A346A	NM_019894	NP_063947			0,1	TMPS4_HUMAN	TMPRSS4	HGNC	Q9NRS4	TMPS4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)			11	1329	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)	UPI00001FA467	346			Extracellular (Potential).|Peptidase S1.		SNV	TMPRSS4,synonymous_variant,p.=,ENST00000534111,NM_019894.3,NM_001173551.1,NM_001083947.1;TMPRSS4,synonymous_variant,p.=,ENST00000437212,;TMPRSS4,synonymous_variant,p.=,ENST00000522824,;TMPRSS4,synonymous_variant,p.=,ENST00000523251,NM_001173552.1;TMPRSS4,synonymous_variant,p.=,ENST00000522307,;TMPRSS4,intron_variant,,ENST00000524218,;TMPRSS4,downstream_gene_variant,,ENST00000522151,;TMPRSS4,intron_variant,,ENST00000518413,;TMPRSS4,3_prime_UTR_variant,,ENST00000517483,;TMPRSS4,non_coding_transcript_exon_variant,,ENST00000528118,;TMPRSS4,non_coding_transcript_exon_variant,,ENST00000523770,;TMPRSS4,intron_variant,,ENST00000519236,;TMPRSS4,downstream_gene_variant,,ENST00000518610,;	uc010rxo.1	c.1038G>A	1252/2074	2	2			c.1038G>A						11	SNP	c.(1036-1038)GCG>GCA	30	30			large_intestine(1)|central_nervous_system(1)	2	Broad	transmembrane protease, serine 4 isoform 1			117985881		0.552	ENSG00000137648	15999	g.chr11:117985881G>A	proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity							20.288096	KEEP	3	5	-1	12	10	3	5	-1	21.442184	12	10	0.285714	1	0	0	0	0	0	0	1	0	--	--		0	A			TMPRSS4_uc010rxp.1_Silent_p.A341A|TMPRSS4_uc010rxq.1_Silent_p.A199A|TMPRSS4_uc010rxr.1_Silent_p.A321A|TMPRSS4_uc010rxs.1_Silent_p.A306A|TMPRSS4_uc009yzu.2_Intron|TMPRSS4_uc010rxt.1_Silent_p.A321A	136	GBM-14-0789-TP	p.A346A	G	TGCTGCAGGCGTCAGTCCAGG	NM_019894	NP_063947	117985881	Q9NRS4	TMPS4_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)	11	1329	+	A	A	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)	Silent	346			Extracellular (Potential).|Peptidase S1.			
TMPRSS4	0	broad.mit.edu	GRCh37	11	117985628	117985628	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2638-01	TCGA-32-2638-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000437212.3:c.995C>T	p.Thr332Met	p.T332M	ENST00000437212		332	aCg/aTg	0	T:0		1			T	T/M	uc010rxo.1	protein_coding	YES	CCDS31684.1			995/1314									large_intestine(1)|central_nervous_system(1)	2	c.(994-996)ACG>ATG			Superfamily_domains:SSF50494,SMART_domains:SM00020,Pfam_domain:PF00089,Gene3D:2.40.10.10,hmmpanther:PTHR24275:SF50,PROSITE_profiles:PS50240,hmmpanther:PTHR24275	transmembrane protease, serine 4 isoform 1			T:0.0003	ENSP00000416037		13-Oct	4.95E-05		0.000449			8.62E-05			rs201401144,COSM3397439	13-Oct	common_variant		ENST00000437212	Transcript	1		proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	ENSG00000137648	g.chr11:117985628C>T	11878			MODERATE		2.51	medium	getma.org/?cm=msa&ty=f&p=TMPS4_HUMAN&rb=205&re=429&var=T332M	getma.org/pdb.php?prot=TMPS4_HUMAN&from=205&to=429&var=T332M	getma.org/?cm=var&var=hg19,11,117985628,C,T&fts=all	T332M	--	--	1																																		TMPRSS4_uc010rxp.1_Missense_Mutation_p.T327M|TMPRSS4_uc010rxq.1_Missense_Mutation_p.T185M|TMPRSS4_uc010rxr.1_Missense_Mutation_p.T307M|TMPRSS4_uc010rxs.1_Missense_Mutation_p.T292M|TMPRSS4_uc009yzu.2_RNA|TMPRSS4_uc010rxt.1_Missense_Mutation_p.T307M	0,1	1		possibly_damaging(0.727)	p.T332M	NM_019894	NP_063947		deleterious(0.04)	0,1	TMPS4_HUMAN	TMPRSS4	HGNC	Q9NRS4	TMPS4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)			10	1286	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)	UPI00001FA467	332			Extracellular (Potential).|Peptidase S1.		SNV	TMPRSS4,missense_variant,p.Thr330Met,ENST00000534111,NM_019894.3,NM_001173551.1,NM_001083947.1;TMPRSS4,missense_variant,p.Thr332Met,ENST00000437212,;TMPRSS4,missense_variant,p.Thr327Met,ENST00000522824,;TMPRSS4,missense_variant,p.Thr292Met,ENST00000523251,NM_001173552.1;TMPRSS4,missense_variant,p.Thr185Met,ENST00000522307,;TMPRSS4,intron_variant,,ENST00000524218,;TMPRSS4,downstream_gene_variant,,ENST00000522151,;TMPRSS4,non_coding_transcript_exon_variant,,ENST00000518413,;TMPRSS4,missense_variant,p.Thr330Met,ENST00000519236,;TMPRSS4,3_prime_UTR_variant,,ENST00000517483,;TMPRSS4,non_coding_transcript_exon_variant,,ENST00000528118,;TMPRSS4,non_coding_transcript_exon_variant,,ENST00000523770,;TMPRSS4,non_coding_transcript_exon_variant,,ENST00000518610,;	uc010rxo.1	c.995C>T	1209/2074	1	1			c.995C>T						11	SNP	c.(994-996)ACG>ATG	5	5			large_intestine(1)|central_nervous_system(1)	2	Broad	transmembrane protease, serine 4 isoform 1			117985628		0.572	ENSG00000137648	15999	g.chr11:117985628C>T	proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity							10.994679	KEEP	4	0	-1	5	7	4	0	-1	11.571262	5	7	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	T			TMPRSS4_uc010rxp.1_Missense_Mutation_p.T327M|TMPRSS4_uc010rxq.1_Missense_Mutation_p.T185M|TMPRSS4_uc010rxr.1_Missense_Mutation_p.T307M|TMPRSS4_uc010rxs.1_Missense_Mutation_p.T292M|TMPRSS4_uc009yzu.2_RNA|TMPRSS4_uc010rxt.1_Missense_Mutation_p.T307M	242	GBM-32-2638-TP	p.T332M	C	TGGGGCTTTACGAAGCAGAAT	NM_019894	NP_063947	117985628	Q9NRS4	TMPS4_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)	10	1286	+	T	T	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)	Missense_Mutation	332			Extracellular (Potential).|Peptidase S1.			
TMPRSS6	164656	broad.mit.edu	GRCh37	22	37482392	37482392	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0878-01	TCGA-06-0878-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000346753.3:c.931G>A	p.Val311Ile	p.V311I	ENST00000346753	NM_153609.2	311	Gtc/Atc	0			1			T	V/I	uc003aqs.1	protein_coding	YES	CCDS13941.1			931/2436									breast(4)|ovary(1)|skin(1)	6	c.(931-933)GTC>ATC			PIRSF_domain:PIRSF037135,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF96,Superfamily_domains:SSF49854	transmembrane protease, serine 6				ENSP00000334962		18-Aug									COSM2152261,COSM3405649,COSM2152262	18-Aug	.		ENST00000346753	Transcript	1		angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	ENSG00000187045	g.chr22:37482392C>T	16517			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=TMPS6_HUMAN&rb=213&re=336&var=V311I	NA	getma.org/?cm=var&var=hg19,22,37482392,C,T&fts=all	V311I	--	--	1																																		TMPRSS6_uc003aqt.1_Missense_Mutation_p.V302I|TMPRSS6_uc003aqu.2_Missense_Mutation_p.V302I	1,1,1	1		benign(0.15)	p.V311I	NM_153609	NP_705837		deleterious(0.04)	1,1,1	TMPS6_HUMAN	TMPRSS6	HGNC	Q8IU80	TMPS6_HUMAN			B0QYB6_HUMAN		8	1045	-			UPI00000747C8	311			CUB 1.|Extracellular (Potential).		SNV	TMPRSS6,missense_variant,p.Val302Ile,ENST00000381792,;TMPRSS6,missense_variant,p.Val311Ile,ENST00000346753,NM_153609.2;TMPRSS6,missense_variant,p.Val302Ile,ENST00000406856,;TMPRSS6,missense_variant,p.Val302Ile,ENST00000406725,;TMPRSS6,missense_variant,p.Val311Ile,ENST00000442782,;TMPRSS6,upstream_gene_variant,,ENST00000429068,;RP5-1170K4.7,downstream_gene_variant,,ENST00000414203,;	uc003aqs.1	c.931G>A	1048/3194	2	2			c.931G>A						22	SNP	c.(931-933)GTC>ATC	18	18			breast(4)|ovary(1)|skin(1)	6	Broad	transmembrane protease, serine 6			37482392		0.667	ENSG00000187045	16001	g.chr22:37482392C>T	angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity							24.798415	KEEP	2	6	-1	1	2	2	6	-1	25.949896	1	2	0.888889	1	0	0	0	0	1	0	0	0	--	--		0	T			TMPRSS6_uc003aqt.1_Missense_Mutation_p.V302I|TMPRSS6_uc003aqu.2_Missense_Mutation_p.V302I	74	GBM-06-0878-TP	p.V311I	C	TTCTTCCAGACGACCGCCATG	NM_153609	NP_705837	37482392	Q8IU80	TMPS6_HUMAN	0			8	1045	-	T	T			Missense_Mutation	311			CUB 1.|Extracellular (Potential).			
TMPRSS6	164656	broad.mit.edu	GRCh37	22	37491997	37491997	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01	TCGA-06-5415-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000346753.3:c.565G>A	p.Val189Ile	p.V189I	ENST00000346753	NM_153609.2	189	Gtc/Atc	0			1			T	V/I	uc003aqs.1	protein_coding	YES	CCDS13941.1			565/2436									breast(4)|ovary(1)|skin(1)	6	c.(565-567)GTC>ATC			PIRSF_domain:PIRSF037135,PROSITE_profiles:PS50024,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF96	transmembrane protease, serine 6				ENSP00000334962		18-May	2.47E-05		0.000173			1.50E-05			rs771121196,COSM3405650,COSM3405651,COSM3405652	18-May	.		ENST00000346753	Transcript	1		angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	ENSG00000187045	g.chr22:37491997C>T	16517			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TMPS6_HUMAN&rb=187&re=386&var=V189I	NA	getma.org/?cm=var&var=hg19,22,37491997,C,T&fts=all	V189I	--	--	1																																		TMPRSS6_uc003aqt.1_Missense_Mutation_p.V180I|TMPRSS6_uc003aqu.2_Missense_Mutation_p.V180I	0,1,1,1	1		benign(0.003)	p.V189I	NM_153609	NP_705837		tolerated(0.2)	0,1,1,1	TMPS6_HUMAN	TMPRSS6	HGNC	Q8IU80	TMPS6_HUMAN			B0QYB6_HUMAN		5	679	-			UPI00000747C8	189			Extracellular (Potential).		SNV	TMPRSS6,missense_variant,p.Val180Ile,ENST00000381792,;TMPRSS6,missense_variant,p.Val189Ile,ENST00000346753,NM_153609.2;TMPRSS6,missense_variant,p.Val180Ile,ENST00000406856,;TMPRSS6,missense_variant,p.Val180Ile,ENST00000406725,;TMPRSS6,missense_variant,p.Val189Ile,ENST00000442782,;TMPRSS6,downstream_gene_variant,,ENST00000423761,;	uc003aqs.1	c.565G>A	682/3194	1	1			c.565G>A						22	SNP	c.(565-567)GTC>ATC	4	4			breast(4)|ovary(1)|skin(1)	6	Broad	transmembrane protease, serine 6			37491997		0.642	ENSG00000187045	16001	g.chr22:37491997C>T	angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity							16.950905	KEEP	7	6	-1	43	39	7	6	-1	24.136776	43	39	0.15625	1	0	0	0	0	1	0	0	0	--	--		0	T			TMPRSS6_uc003aqt.1_Missense_Mutation_p.V180I|TMPRSS6_uc003aqu.2_Missense_Mutation_p.V180I	98	GBM-06-5415-TP	p.V189I	C	CTGTAGGGGACGGCAGCCGAG	NM_153609	NP_705837	37491997	Q8IU80	TMPS6_HUMAN	0			5	679	-	T	T			Missense_Mutation	189			Extracellular (Potential).			
TMPRSS6	0	broad.mit.edu	GRCh37	22	37492125	37492125	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-19-2629-01	TCGA-19-2629-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000346753.3:c.437delG	p.Gly146AspfsTer19	p.G146Dfs*19	ENST00000346753	NM_153609.2	146	gGa/ga	0			1			-	G/X	uc003aqs.1	protein_coding	YES	CCDS13941.1			437/2436									breast(4)|ovary(1)|skin(1)	6	c.(436-438)GGAfs			Superfamily_domains:0047452,Pfam_domain:PF01390,PIRSF_domain:PIRSF037135,PROSITE_profiles:PS50024,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF96	transmembrane protease, serine 6				ENSP00000334962		18-May									COSM2156324,COSM2156325	18-May	.		ENST00000346753	Transcript	1		angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	ENSG00000187045	g.chr22:37492125delC	16517			HIGH								--	--	1																																		TMPRSS6_uc003aqt.1_Frame_Shift_Del_p.G137fs|TMPRSS6_uc003aqu.2_Frame_Shift_Del_p.G137fs	1,1	1			p.G146fs	NM_153609	NP_705837			1,1	TMPS6_HUMAN	TMPRSS6	HGNC	Q8IU80	TMPS6_HUMAN			B0QYB6_HUMAN		5	551	-			UPI00000747C8	146			Extracellular (Potential).		deletion	TMPRSS6,frameshift_variant,p.Gly137AspfsTer19,ENST00000381792,;TMPRSS6,frameshift_variant,p.Gly146AspfsTer19,ENST00000346753,NM_153609.2;TMPRSS6,frameshift_variant,p.Gly137AspfsTer19,ENST00000406856,;TMPRSS6,frameshift_variant,p.Gly137AspfsTer19,ENST00000406725,;TMPRSS6,frameshift_variant,p.Gly146AspfsTer19,ENST00000442782,;TMPRSS6,frameshift_variant,p.Gly137AspfsTer?,ENST00000423761,;	uc003aqs.1	c.437delG	554/3194	5	5			c.437delG						22	DEL	c.(436-438)GGAfs	7	7			breast(4)|ovary(1)|skin(1)	6	Broad	transmembrane protease, serine 6			37492125		0.567	ENSG00000187045	16001	g.chr22:37492125delC	angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity																				0.48	1	1	0	1	0	0	0	0	0	--	--		0	-			TMPRSS6_uc003aqt.1_Frame_Shift_Del_p.G137fs|TMPRSS6_uc003aqu.2_Frame_Shift_Del_p.G137fs	166	GBM-19-2629-TP	p.G146fs	C	GGTGAGGGGTCCCTCCCTAAG	NM_153609	NP_705837	37492125	Q8IU80	TMPS6_HUMAN	0			5	551	-	-	-			Frame_Shift_Del	146			Extracellular (Potential).			
TMPRSS6	0	broad.mit.edu	GRCh37	22	37482392	37482392	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5139-01	TCGA-26-5139-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000346753.3:c.931G>A	p.Val311Ile	p.V311I	ENST00000346753	NM_153609.2	311	Gtc/Atc	0			1			T	V/I	uc003aqs.1	protein_coding	YES	CCDS13941.1			931/2436									breast(4)|ovary(1)|skin(1)	6	c.(931-933)GTC>ATC			PIRSF_domain:PIRSF037135,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF96,Superfamily_domains:SSF49854	transmembrane protease, serine 6				ENSP00000334962		18-Aug									COSM2152261,COSM3405649,COSM2152262	18-Aug	.		ENST00000346753	Transcript	1		angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	ENSG00000187045	g.chr22:37482392C>T	16517			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=TMPS6_HUMAN&rb=213&re=336&var=V311I	NA	getma.org/?cm=var&var=hg19,22,37482392,C,T&fts=all	V311I	--	--	1																																		TMPRSS6_uc003aqt.1_Missense_Mutation_p.V302I|TMPRSS6_uc003aqu.2_Missense_Mutation_p.V302I	1,1,1	1		benign(0.15)	p.V311I	NM_153609	NP_705837		deleterious(0.04)	1,1,1	TMPS6_HUMAN	TMPRSS6	HGNC	Q8IU80	TMPS6_HUMAN			B0QYB6_HUMAN		8	1045	-			UPI00000747C8	311			CUB 1.|Extracellular (Potential).		SNV	TMPRSS6,missense_variant,p.Val302Ile,ENST00000381792,;TMPRSS6,missense_variant,p.Val311Ile,ENST00000346753,NM_153609.2;TMPRSS6,missense_variant,p.Val302Ile,ENST00000406856,;TMPRSS6,missense_variant,p.Val302Ile,ENST00000406725,;TMPRSS6,missense_variant,p.Val311Ile,ENST00000442782,;TMPRSS6,upstream_gene_variant,,ENST00000429068,;RP5-1170K4.7,downstream_gene_variant,,ENST00000414203,;	uc003aqs.1	c.931G>A	1048/3194	2	2			c.931G>A						22	SNP	c.(931-933)GTC>ATC	18	18			breast(4)|ovary(1)|skin(1)	6	Broad	transmembrane protease, serine 6			37482392		0.667	ENSG00000187045	16001	g.chr22:37482392C>T	angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity							23.795889	KEEP	6	6	-1	11	11	6	6	-1	23.806438	11	11	0.478261	1	0	0	0	0	1	0	0	0	--	--		0	T			TMPRSS6_uc003aqt.1_Missense_Mutation_p.V302I|TMPRSS6_uc003aqu.2_Missense_Mutation_p.V302I	186	GBM-26-5139-TP	p.V311I	C	TTCTTCCAGACGACCGCCATG	NM_153609	NP_705837	37482392	Q8IU80	TMPS6_HUMAN	0			8	1045	-	T	T			Missense_Mutation	311			CUB 1.|Extracellular (Potential).			
TMPRSS6	0	broad.mit.edu	GRCh37	22	37469590	37469590	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1832-01	TCGA-27-1832-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000346753.3:c.1564G>A	p.Glu522Lys	p.E522K	ENST00000346753	NM_153609.2	522	Gaa/Aaa	0			1			T	E/K	uc003aqs.1	protein_coding	YES	CCDS13941.1			1564/2436						pathogenic			breast(4)|ovary(1)|skin(1)	6	c.(1564-1566)GAA>AAA			Gene3D:4.10.400.10,Pfam_domain:PF00057,PIRSF_domain:PIRSF037135,PROSITE_profiles:PS50068,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF96,SMART_domains:SM00192,Superfamily_domains:SSF57424	transmembrane protease, serine 6				ENSP00000334962		13/18	1.65E-05					3.00E-05			rs387907018,COSM3150117,COSM3405646	13/18	.		ENST00000346753	Transcript	1		angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	ENSG00000187045	g.chr22:37469590C>T	16517			MODERATE		4.24	high	getma.org/?cm=msa&ty=f&p=TMPS6_HUMAN&rb=490&re=525&var=E522K	getma.org/pdb.php?prot=TMPS6_HUMAN&from=490&to=525&var=E522K	getma.org/?cm=var&var=hg19,22,37469590,C,T&fts=all	E522K	--	--	1																																		TMPRSS6_uc003aqt.1_Missense_Mutation_p.E513K	1,1,1	1		probably_damaging(0.973)	p.E522K	NM_153609	NP_705837		deleterious(0)	0,1,1	TMPS6_HUMAN	TMPRSS6	HGNC	Q8IU80	TMPS6_HUMAN			B0QYB6_HUMAN		13	1678	-			UPI00000747C8	522			LDL-receptor class A 2.|Extracellular (Potential).		SNV	TMPRSS6,missense_variant,p.Glu513Lys,ENST00000381792,;TMPRSS6,missense_variant,p.Glu522Lys,ENST00000346753,NM_153609.2;TMPRSS6,missense_variant,p.Glu513Lys,ENST00000406856,;TMPRSS6,missense_variant,p.Glu513Lys,ENST00000406725,;	uc003aqs.1	c.1564G>A	1681/3194	2	2			c.1564G>A						22	SNP	c.(1564-1566)GAA>AAA	22	22			breast(4)|ovary(1)|skin(1)	6	Broad	transmembrane protease, serine 6			37469590		0.552	ENSG00000187045	16001	g.chr22:37469590C>T	angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity							105.750836	KEEP	29	21	-1	61	49	29	21	-1	110.908329	61	49	0.294118	1	0	0	0	0	1	0	0	0	--	--		0	T			TMPRSS6_uc003aqt.1_Missense_Mutation_p.E513K	191	GBM-27-1832-TP	p.E522K	C	CACTGCTCTTCGTCGCTGCCG	NM_153609	NP_705837	37469590	Q8IU80	TMPS6_HUMAN	0			13	1678	-	T	T			Missense_Mutation	522			LDL-receptor class A 2.|Extracellular (Potential).			
TMPRSS6	0	broad.mit.edu	GRCh37	22	37470715	37470715	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01	TCGA-76-4928-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000346753.3:c.1403G>A	p.Gly468Glu	p.G468E	ENST00000346753	NM_153609.2	468	gGa/gAa	0			1			T	G/E	uc003aqs.1	protein_coding	YES	CCDS13941.1			1403/2436									breast(4)|ovary(1)|skin(1)	6	c.(1402-1404)GGA>GAA			Gene3D:4.10.400.10,PIRSF_domain:PIRSF037135,PROSITE_profiles:PS50068,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF96,SMART_domains:SM00192,Superfamily_domains:SSF57424	transmembrane protease, serine 6				ENSP00000334962		18-Dec									COSM3405647,COSM3405648	18-Dec	.		ENST00000346753	Transcript	1		angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	ENSG00000187045	g.chr22:37470715C>T	16517			MODERATE		1.925	medium	getma.org/?cm=msa&ty=f&p=TMPS6_HUMAN&rb=457&re=489&var=G468E	NA	getma.org/?cm=var&var=hg19,22,37470715,C,T&fts=all	G468E	--	--	1																																		TMPRSS6_uc003aqt.1_Missense_Mutation_p.G459E	1,1	1		probably_damaging(1)	p.G468E	NM_153609	NP_705837		deleterious(0)	1,1	TMPS6_HUMAN	TMPRSS6	HGNC	Q8IU80	TMPS6_HUMAN			B0QYB6_HUMAN		12	1517	-			UPI00000747C8	468			LDL-receptor class A 1.|Extracellular (Potential).		SNV	TMPRSS6,missense_variant,p.Gly459Glu,ENST00000381792,;TMPRSS6,missense_variant,p.Gly468Glu,ENST00000346753,NM_153609.2;TMPRSS6,missense_variant,p.Gly459Glu,ENST00000406856,;TMPRSS6,missense_variant,p.Gly459Glu,ENST00000406725,;	uc003aqs.1	c.1403G>A	1520/3194	2	2			c.1403G>A						22	SNP	c.(1402-1404)GGA>GAA	22	22			breast(4)|ovary(1)|skin(1)	6	Broad	transmembrane protease, serine 6			37470715		0.632	ENSG00000187045	16001	g.chr22:37470715C>T	angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity							30.358689	KEEP	11	4	-1	24	29	11	4	-1	34.40565	24	29	0.224138	1	0	0	0	0	1	0	0	0	--	--		0	T			TMPRSS6_uc003aqt.1_Missense_Mutation_p.G459E	268	GBM-76-4928-TP	p.G468E	C	GACACAGAGTCCATTCACAGA	NM_153609	NP_705837	37470715	Q8IU80	TMPS6_HUMAN	0			12	1517	-	T	T			Missense_Mutation	468			LDL-receptor class A 1.|Extracellular (Potential).			
TMPRSS7	344805	broad.mit.edu	GRCh37	3	111766626	111766626	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-06-2569-01	TCGA-06-2569-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000419127.1:c.393T>G	p.Ser131=	p.S131=	ENST00000419127	NM_001042575.2	131	tcT/tcG	0			1			G	S	uc010hqb.2	protein_coding					771/2532									ovary(1)|kidney(1)	2	c.(391-393)TCT>TCG			Gene3D:2.60.120.290,PROSITE_profiles:PS01180,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF17,SMART_domains:SM00042,Superfamily_domains:SSF49854	transmembrane protease, serine 7				ENSP00000398236		18-Jul									COSM3408124	18-Jul	.		ENST00000452346	Transcript			proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	ENSG00000176040	g.chr3:111766626T>G	30846			LOW								--	--	1																																		TMPRSS7_uc011bhr.1_5'UTR	1				p.S131S	NM_001042575	NP_001036040			1	TMPS7_HUMAN	TMPRSS7	HGNC	Q7RTY8	TMPS7_HUMAN					5	563	+			UPI0000049845	257			Extracellular (Potential).|CUB 1.		SNV	TMPRSS7,synonymous_variant,p.=,ENST00000452346,;TMPRSS7,synonymous_variant,p.=,ENST00000419127,NM_001042575.2;TMPRSS7,synonymous_variant,p.=,ENST00000460599,;TMPRSS7,3_prime_UTR_variant,,ENST00000435737,;	uc010hqb.2	c.393T>G	774/2616	3	3			c.393T>G						3	SNP	c.(391-393)TCT>TCG	11	11			ovary(1)|kidney(1)	2	Broad	transmembrane protease, serine 7			111766626		0.448	ENSG00000176040	16002	g.chr3:111766626T>G	proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity							135.393144	KEEP	21	26	-1	3	4	21	26	-1	141.738527	3	4	0.87234	1	0	0	0	0	0	0	1	0	--	--		0	G			TMPRSS7_uc011bhr.1_5'UTR	90	GBM-06-2569-TP	p.S131S	T	AGCATCTGTCTCTCCACTACC	NM_001042575	NP_001036040	111766626	Q7RTY8	TMPS7_HUMAN	0			5	563	+	G	G			Silent	257			Extracellular (Potential).|CUB 1.			
TMPRSS7	0	broad.mit.edu	GRCh37	3	111769547	111769547	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-5204-01	TCGA-28-5204-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000452346.2:c.1120A>G	p.Ile374Val	p.I374V	ENST00000452346		374	Atc/Gtc	0			1			G	I/V	uc010hqb.2	protein_coding					1120/2532									ovary(1)|kidney(1)	2	c.(742-744)ATC>GTC			Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF17,Superfamily_domains:SSF49854	transmembrane protease, serine 7				ENSP00000398236		18-Sep	8.28E-06					1.50E-05			rs757209497,COSM3408126,COSM3408125	18-Sep	.		ENST00000452346	Transcript			proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	ENSG00000176040	g.chr3:111769547A>G	30846			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=TMPS7_HUMAN&rb=365&re=475&var=I374V	NA	getma.org/?cm=var&var=hg19,3,111769547,A,G&fts=all	I374V	--	--	1																																		TMPRSS7_uc011bhr.1_Missense_Mutation_p.I103V	0,1,1			benign(0.04)	p.I248V	NM_001042575	NP_001036040		tolerated(0.28)	0,1,1	TMPS7_HUMAN	TMPRSS7	HGNC	Q7RTY8	TMPS7_HUMAN					7	912	+			UPI0000049845	374			Extracellular (Potential).|CUB 2.		SNV	TMPRSS7,missense_variant,p.Ile374Val,ENST00000452346,;TMPRSS7,missense_variant,p.Ile248Val,ENST00000419127,NM_001042575.2;TMPRSS7,downstream_gene_variant,,ENST00000460599,;TMPRSS7,3_prime_UTR_variant,,ENST00000435737,;	uc010hqb.2	c.742A>G	1123/2616	3	3			c.742A>G						3	SNP	c.(742-744)ATC>GTC	49	49			ovary(1)|kidney(1)	2	Broad	transmembrane protease, serine 7			111769547		0.403	ENSG00000176040	16002	g.chr3:111769547A>G	proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity							759.701908	KEEP	148	143	-1	200	233	148	143	-1	763.807269	200	233	0.411074	1	0	0	0	0	1	0	0	0	--	--		0	G			TMPRSS7_uc011bhr.1_Missense_Mutation_p.I103V	215	GBM-28-5204-TP	p.I248V	A	GGTCAAAGACATCACTGGCTT	NM_001042575	NP_001036040	111769547	Q7RTY8	TMPS7_HUMAN	0			7	912	+	G	G			Missense_Mutation	374			Extracellular (Potential).|CUB 2.			
TMSB15A	11013		GRCh37	X	101770022	101770022	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000289373.4:c.70G>A	p.Glu24Lys	p.E24K	ENST00000289373	NM_021992.2	24	Gaa/Aaa	0																																																																																																																																																																																																																																												
TMTC1	83857	broad.mit.edu	GRCh37	12	29669420	29669420	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A			TCGA-06-0747-01	TCGA-06-0747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000539277.1:c.2170-1G>T		p.X724_splice	ENST00000539277	NM_001193451.1	724		0			1			A		uc001rjb.2	protein_coding	YES	CCDS53772.1			2170/2649										0	c.e15-1				transmembrane and tetratricopeptide repeat				ENSP00000442046											COSM3398653		.		ENST00000539277	Transcript				integral to membrane	binding	ENSG00000133687	g.chr12:29669420C>A	24099			HIGH	14/17							--	--	1																																		TMTC1_uc001riz.2_Splice_Site_p.A373_splice|TMTC1_uc001rja.2_Splice_Site_p.A460_splice|TMTC1_uc001riy.2_Splice_Site_p.A69_splice	1	1			p.A616_splice	NM_175861	NP_787057			1	TMTC1_HUMAN	TMTC1	HGNC	Q8IUR5	TMTC1_HUMAN			B3KVW1_HUMAN		15	2320	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		UPI0001DD37FA						SNV	TMTC1,splice_acceptor_variant,,ENST00000256062,NM_175861.3;TMTC1,splice_acceptor_variant,,ENST00000551659,;TMTC1,splice_acceptor_variant,,ENST00000552618,;TMTC1,splice_acceptor_variant,,ENST00000539277,NM_001193451.1;RP11-310I24.1,upstream_gene_variant,,ENST00000549070,;TMTC1,splice_acceptor_variant,,ENST00000319685,;TMTC1,splice_acceptor_variant,,ENST00000552925,;	uc001rjb.2	c.1846_splice	-/2758	5	2			c.1846_splice						12	SNP	c.e15-1	29	29				0	Broad	transmembrane and tetratricopeptide repeat			29669420		0.453	ENSG00000133687	16010	g.chr12:29669420C>A		integral to membrane	binding							-7.28981	KEEP	2	3	0.6	50	43	2	3	0.6	10.307276	50	43	0.05814	1	0	0	0	0	0	0	0	1	--	--		0	A			TMTC1_uc001riz.2_Splice_Site_p.A373_splice|TMTC1_uc001rja.2_Splice_Site_p.A460_splice|TMTC1_uc001riy.2_Splice_Site_p.A69_splice	68	GBM-06-0747-TP	p.A616_splice	C	AAACCTGAGCCTACAAAACCA	NM_175861	NP_787057	29669420	Q8IUR5	TMTC1_HUMAN	0			15	2320	-	A	A	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		Splice_Site							
TMTC2	0	broad.mit.edu	GRCh37	12	83251229	83251229	+	stop_gained	Nonsense_Mutation	SNP	C	C	G			TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321196.3:c.524C>G	p.Ser175Ter	p.S175*	ENST00000321196	NM_152588.1	175	tCa/tGa	0			1			G	S/*	uc001szt.2	protein_coding	YES	CCDS9025.1			524/2511									ovary(2)	2	c.(523-525)TCA>TGA			Transmembrane_helices:TMhelix,hmmpanther:PTHR23083:SF390,hmmpanther:PTHR23083,Pfam_domain:PF13231	transmembrane and tetratricopeptide repeat				ENSP00000322300		12-Feb									COSM3399137	12-Feb	.		ENST00000321196	Transcript				endoplasmic reticulum|integral to membrane	binding	ENSG00000179104	g.chr12:83251229C>G	25440			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,12,83251229,C,G&fts=all	S175*	--	--	1																																		TMTC2_uc001szr.1_Nonsense_Mutation_p.S175*|TMTC2_uc001szs.1_Nonsense_Mutation_p.S175*|TMTC2_uc010suk.1_Intron	1	1			p.S175*	NM_152588	NP_689801			1	TMTC2_HUMAN	TMTC2	HGNC	Q8N394	TMTC2_HUMAN					2	956	+			UPI0000073F0F	175			Helical; (Potential).		SNV	TMTC2,stop_gained,p.Ser169Ter,ENST00000549919,;TMTC2,stop_gained,p.Ser175Ter,ENST00000321196,NM_152588.1;TMTC2,stop_gained,p.Ser175Ter,ENST00000548305,;TMTC2,non_coding_transcript_exon_variant,,ENST00000551915,;TMTC2,intron_variant,,ENST00000546590,;	uc001szt.2	c.524C>G	1231/5681	5	4			c.524C>G						12	SNP	c.(523-525)TCA>TGA	29	29			ovary(2)	2	Broad	transmembrane and tetratricopeptide repeat			83251229		0.507	ENSG00000179104	16011	g.chr12:83251229C>G		endoplasmic reticulum|integral to membrane	binding							-122.005387	KEEP	9	14	-1	317	419	9	14	-1	48.488946	317	419	0.031073	1	0	0	0	0	0	1	0	0	--	--		0	G			TMTC2_uc001szr.1_Nonsense_Mutation_p.S175*|TMTC2_uc001szs.1_Nonsense_Mutation_p.S175*|TMTC2_uc010suk.1_Intron	246	GBM-32-4211-TP	p.S175*	C	TTCCTGGGGTCAGGACTGTGC	NM_152588	NP_689801	83251229	Q8N394	TMTC2_HUMAN	0			2	956	+	G	G			Nonsense_Mutation	175			Helical; (Potential).			
TMTC2	0	broad.mit.edu	GRCh37	12	83251308	83251308	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321196.3:c.603C>G	p.Val201=	p.V201=	ENST00000321196	NM_152588.1	201	gtC/gtG	0			1			G	V	uc001szt.2	protein_coding	YES	CCDS9025.1			603/2511									ovary(2)	2	c.(601-603)GTC>GTG			Transmembrane_helices:TMhelix,hmmpanther:PTHR23083:SF390,hmmpanther:PTHR23083,Pfam_domain:PF13231	transmembrane and tetratricopeptide repeat				ENSP00000322300		12-Feb									COSM3399138	12-Feb	.		ENST00000321196	Transcript				endoplasmic reticulum|integral to membrane	binding	ENSG00000179104	g.chr12:83251308C>G	25440			LOW								--	--	1																																		TMTC2_uc001szr.1_Silent_p.V201V|TMTC2_uc001szs.1_Silent_p.V201V|TMTC2_uc010suk.1_Intron	1	1			p.V201V	NM_152588	NP_689801			1	TMTC2_HUMAN	TMTC2	HGNC	Q8N394	TMTC2_HUMAN					2	1035	+			UPI0000073F0F	201			Helical; (Potential).		SNV	TMTC2,synonymous_variant,p.=,ENST00000549919,;TMTC2,synonymous_variant,p.=,ENST00000321196,NM_152588.1;TMTC2,synonymous_variant,p.=,ENST00000548305,;TMTC2,non_coding_transcript_exon_variant,,ENST00000551915,;TMTC2,intron_variant,,ENST00000546590,;	uc001szt.2	c.603C>G	1310/5681	3	3			c.603C>G						12	SNP	c.(601-603)GTC>GTG	9	9			ovary(2)	2	Broad	transmembrane and tetratricopeptide repeat			83251308		0.443	ENSG00000179104	16011	g.chr12:83251308C>G		endoplasmic reticulum|integral to membrane	binding							-158.57857	KEEP	11	16	-1	438	534	11	16	-1	50.141322	438	534	0.02515	1	0	0	0	0	0	0	1	0	--	--		0	G			TMTC2_uc001szr.1_Silent_p.V201V|TMTC2_uc001szs.1_Silent_p.V201V|TMTC2_uc010suk.1_Intron	246	GBM-32-4211-TP	p.V201V	C	TTTATGATGTCTTTGTCTTTC	NM_152588	NP_689801	83251308	Q8N394	TMTC2_HUMAN	0			2	1035	+	G	G			Silent	201			Helical; (Potential).			
TMTC2	0	broad.mit.edu	GRCh37	12	83251314	83251314	+	synonymous_variant	Silent	SNP	C	C	G	rs138847027		TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321196.3:c.609C>G	p.Val203=	p.V203=	ENST00000321196	NM_152588.1	203	gtC/gtG	0	T:0		1			G	V	uc001szt.2	protein_coding	YES	CCDS9025.1			609/2511									ovary(2)	2	c.(607-609)GTC>GTG			Transmembrane_helices:TMhelix,hmmpanther:PTHR23083:SF390,hmmpanther:PTHR23083,Pfam_domain:PF13231	transmembrane and tetratricopeptide repeat			T:0.0005	ENSP00000322300		12-Feb	1.65E-05					3.04E-05			rs138847027,COSM3399139	12-Feb	.		ENST00000321196	Transcript				endoplasmic reticulum|integral to membrane	binding	ENSG00000179104	g.chr12:83251314C>G	25440			LOW								--	--	1																																		TMTC2_uc001szr.1_Silent_p.V203V|TMTC2_uc001szs.1_Silent_p.V203V|TMTC2_uc010suk.1_Intron	0,1	1			p.V203V	NM_152588	NP_689801			0,1	TMTC2_HUMAN	TMTC2	HGNC	Q8N394	TMTC2_HUMAN					2	1041	+			UPI0000073F0F	203			Helical; (Potential).		SNV	TMTC2,synonymous_variant,p.=,ENST00000549919,;TMTC2,synonymous_variant,p.=,ENST00000321196,NM_152588.1;TMTC2,synonymous_variant,p.=,ENST00000548305,;TMTC2,non_coding_transcript_exon_variant,,ENST00000551915,;TMTC2,intron_variant,,ENST00000546590,;	uc001szt.2	c.609C>G	1316/5681	3	3			c.609C>G						12	SNP	c.(607-609)GTC>GTG	1	1			ovary(2)	2	Broad	transmembrane and tetratricopeptide repeat			83251314		0.428	ENSG00000179104	16011	g.chr12:83251314C>G		endoplasmic reticulum|integral to membrane	binding							-159.388519	KEEP	10	17	-1	433	528	10	17	-1	48.482726	433	528	0.02524	1	0	0	0	0	0	0	1	0	--	--		0	G			TMTC2_uc001szr.1_Silent_p.V203V|TMTC2_uc001szs.1_Silent_p.V203V|TMTC2_uc010suk.1_Intron	246	GBM-32-4211-TP	p.V203V	C	ATGTCTTTGTCTTTCACAGGC	NM_152588	NP_689801	83251314	Q8N394	TMTC2_HUMAN	0			2	1041	+	G	G			Silent	203			Helical; (Potential).			
TMTC2	0	broad.mit.edu	GRCh37	12	83289748	83289748	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01	TCGA-76-4935-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321196.3:c.806G>A	p.Arg269His	p.R269H	ENST00000321196	NM_152588.1	269	cGc/cAc	0		A:0	1	A:0.0014		A	R/H	uc001szt.2	protein_coding	YES	CCDS9025.1			806/2511									ovary(2)	2	c.(805-807)CGC>CAC			hmmpanther:PTHR23083:SF390,hmmpanther:PTHR23083,Pfam_domain:PF08409	transmembrane and tetratricopeptide repeat		A:0		ENSP00000322300	A:0	12-Mar	3.29E-05		0.000173		0.000151			6.06E-05	rs559369404,COSM3399141	12-Mar	.		ENST00000321196	Transcript		A:0.0002		endoplasmic reticulum|integral to membrane	binding	ENSG00000179104	g.chr12:83289748G>A	25440			MODERATE		3.565	high	getma.org/?cm=msa&ty=f&p=TMTC2_HUMAN&rb=245&re=324&var=R269H	NA	getma.org/?cm=var&var=hg19,12,83289748,G,A&fts=all	R269H	--	--	1																																		TMTC2_uc001szr.1_Missense_Mutation_p.R269H|TMTC2_uc001szs.1_Missense_Mutation_p.R269H|TMTC2_uc010suk.1_Missense_Mutation_p.R24H	0,1	1		probably_damaging(1)	p.R269H	NM_152588	NP_689801	A:0	deleterious(0)	0,1	TMTC2_HUMAN	TMTC2	HGNC	Q8N394	TMTC2_HUMAN					3	1238	+			UPI0000073F0F	269					SNV	TMTC2,missense_variant,p.Arg263His,ENST00000549919,;TMTC2,missense_variant,p.Arg269His,ENST00000321196,NM_152588.1;TMTC2,missense_variant,p.Arg269His,ENST00000548305,;TMTC2,3_prime_UTR_variant,,ENST00000546590,;TMTC2,non_coding_transcript_exon_variant,,ENST00000551915,;	uc001szt.2	c.806G>A	1513/5681	1	1			c.806G>A						12	SNP	c.(805-807)CGC>CAC	56	56			ovary(2)	2	Broad	transmembrane and tetratricopeptide repeat			83289748		0.527	ENSG00000179104	16011	g.chr12:83289748G>A		endoplasmic reticulum|integral to membrane	binding							-57.168262	KEEP	4	1	-1	147	117	4	1	-1	7.658067	147	117	0.01992	1	0	0	0	0	1	0	0	0	--	--		0	A			TMTC2_uc001szr.1_Missense_Mutation_p.R269H|TMTC2_uc001szs.1_Missense_Mutation_p.R269H|TMTC2_uc010suk.1_Missense_Mutation_p.R24H	273	GBM-76-4935-TP	p.R269H	G	CTCCTCACCCGCACTCTCACC	NM_152588	NP_689801	83289748	Q8N394	TMTC2_HUMAN	0			3	1238	+	A	A			Missense_Mutation	269						
TMTC3	0	broad.mit.edu	GRCh37	12	88566417	88566417	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-12-5301-01	TCGA-12-5301-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000266712.6:c.1101delT	p.Pro368GlnfsTer22	p.P368Qfs*22	ENST00000266712	NM_181783.3	365	cTt/ct	0	-:0.0042		1			-	L/X	uc001tau.2	protein_coding	YES	CCDS9032.1			1094/2745									skin(1)	1	c.(1093-1095)CTTfs			hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF384,Transmembrane_helices:TMhelix	transmembrane and tetratricopeptide repeat			-:0.0023	ENSP00000266712		14-Aug	1.65E-05					1.50E-05		6.08E-05	rs751346733,COSM1364725	14-Aug	.		ENST00000266712	Transcript				integral to membrane	binding	ENSG00000139324	g.chr12:88566417delT	26899	7		HIGH								--	--	1																																		TMTC3_uc009zsm.2_RNA	0,1	1			p.L365fs	NM_181783	NP_861448			0,1	TMTC3_HUMAN	TMTC3	HGNC	Q6ZXV5	TMTC3_HUMAN			F8W044_HUMAN		8	1314	+			UPI000004D255	365			Helical; (Potential).		deletion	TMTC3,frameshift_variant,p.Pro368GlnfsTer22,ENST00000266712,NM_181783.3;TMTC3,frameshift_variant,p.Pro368GlnfsTer22,ENST00000547034,;	uc001tau.2	c.1094delT	1314/7203	5	5			c.1094delT						12	DEL	c.(1093-1095)CTTfs	28	28			skin(1)	1	Broad	transmembrane and tetratricopeptide repeat			88566417		0.303	ENSG00000139324	16012	g.chr12:88566417delT		integral to membrane	binding																				0.02	1	1	0	1	0	0	0	0	0	--	--		0	-			TMTC3_uc009zsm.2_RNA	131	GBM-12-5301-TP	p.L365fs	T	GCATCGAACCTTTTTTTTCCA	NM_181783	NP_861448	88566417	Q6ZXV5	TMTC3_HUMAN	0			8	1314	+	-	-			Frame_Shift_Del	365			Helical; (Potential).			
TMTC4	84899	broad.mit.edu	GRCh37	13	101315357	101315357	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0211-01	TCGA-06-0211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342624.5:c.413C>T	p.Ser138Phe	p.S138F	ENST00000342624	NM_032813.2	138	tCt/tTt	0			1			A	S/F	uc001vou.2	protein_coding		CCDS41904.1			356/2226									ovary(2)|breast(1)	3	c.(355-357)TCT>TTT			Transmembrane_helices:TMhelix,hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF374	transmembrane and tetratricopeptide repeat				ENSP00000365408		18-Apr									COSM2150791	18-Apr	.		ENST00000376234	Transcript				integral to membrane	binding	ENSG00000125247	g.chr13:101315357G>A	25904			MODERATE		2.11	medium	getma.org/?cm=msa&ty=f&p=TMTC4_HUMAN&rb=1&re=200&var=S119F	NA	getma.org/?cm=var&var=hg19,13,101315357,G,A&fts=all	S119F	--	--	1																																		TMTC4_uc001vot.2_Missense_Mutation_p.S138F|TMTC4_uc010tja.1_Intron	1			possibly_damaging(0.738)	p.S119F	NM_001079669	NP_001073137		deleterious(0)	1	TMTC4_HUMAN	TMTC4	HGNC	Q5T4D3	TMTC4_HUMAN					4	516	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		UPI00005A9257	119			Helical; (Potential).		SNV	TMTC4,missense_variant,p.Ser138Phe,ENST00000342624,NM_032813.2;TMTC4,missense_variant,p.Ser119Phe,ENST00000376234,NM_001079669.1;TMTC4,intron_variant,,ENST00000328767,NM_001286453.1;TMTC4,downstream_gene_variant,,ENST00000440120,;	uc001vou.2	c.356C>T	546/3483	2	2			c.356C>T						13	SNP	c.(355-357)TCT>TTT	47	47			ovary(2)|breast(1)	3	Broad	transmembrane and tetratricopeptide repeat			101315357		0.602	ENSG00000125247	16013	g.chr13:101315357G>A		integral to membrane	binding							152.411439	KEEP	30	31	-1	55	62	30	31	-1	155.544542	55	62	0.346667	1	0	0	0	0	1	0	0	0	--	--		0	A			TMTC4_uc001vot.2_Missense_Mutation_p.S138F|TMTC4_uc010tja.1_Intron	48	GBM-06-0211-TP	p.S119F	G	CATGAGGACAGAGATGCCACT	NM_001079669	NP_001073137	101315357	Q5T4D3	TMTC4_HUMAN	0			4	516	-	A	A	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		Missense_Mutation	119			Helical; (Potential).			
TMX3	54495	broad.mit.edu	GRCh37	18	66377374	66377374	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01	TCGA-06-0158-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299608.2:c.149C>T	p.Ala50Val	p.A50V	ENST00000299608	NM_019022.3	50	gCg/gTg	0			1			A	A/V	uc002lkf.2	protein_coding	YES	CCDS32840.1			149/1365									skin(1)	1	c.(148-150)GCG>GTG			PROSITE_profiles:PS51352,hmmpanther:PTHR18929,hmmpanther:PTHR18929:SF62,PROSITE_patterns:PS00194,Pfam_domain:PF00085,Gene3D:3.40.30.10,Superfamily_domains:SSF52833,Prints_domain:PR00421	thioredoxin domain containing 10 precursor				ENSP00000299608		16-Apr	4.12E-05			0.000135		1.81E-05		7.18E-05	rs781009052,COSM3145231	16-Apr	.		ENST00000299608	Transcript			cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	ENSG00000166479	g.chr18:66377374G>A	24718			MODERATE		3.6	high	getma.org/?cm=msa&ty=f&p=TMX3_HUMAN&rb=27&re=129&var=A50V	getma.org/pdb.php?prot=TMX3_HUMAN&from=27&to=129&var=A50V	getma.org/?cm=var&var=hg19,18,66377374,G,A&fts=all	A50V	--	--	1																																		TMX3_uc010xez.1_5'UTR|TMX3_uc010xfa.1_Missense_Mutation_p.A50V|TMX3_uc002lkg.3_Missense_Mutation_p.A50V	0,1	1		probably_damaging(1)	p.A50V	NM_019022	NP_061895		deleterious(0)	0,1	TMX3_HUMAN	TMX3	HGNC	Q96JJ7	TMX3_HUMAN					4	284	-			UPI000004A093	50			Thioredoxin.|Lumenal (Potential).		SNV	TMX3,missense_variant,p.Ala50Val,ENST00000299608,NM_019022.3;TMX3,missense_variant,p.Ala50Val,ENST00000562706,;TMX3,missense_variant,p.Ala50Val,ENST00000443099,;TMX3,missense_variant,p.Ala50Val,ENST00000544714,;TMX3,missense_variant,p.Ala50Val,ENST00000564631,;TMX3,missense_variant,p.Ala50Val,ENST00000569053,;TMX3,missense_variant,p.Ala50Val,ENST00000565918,;TMX3,missense_variant,p.Ala30Val,ENST00000569982,;TMX3,intron_variant,,ENST00000564008,;	uc002lkf.2	c.149C>T	466/4927	1	1			c.149C>T						18	SNP	c.(148-150)GCG>GTG	64	64			skin(1)	1	Broad	thioredoxin domain containing 10 precursor			66377374		0.323	ENSG00000166479	16018	g.chr18:66377374G>A	cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity							2.271887	KEEP	3	1	-1	17	21	3	1	-1	8.411406	17	21	0.102564	1	0	0	0	0	1	0	0	0	--	--		0	A			TMX3_uc010xez.1_5'UTR|TMX3_uc010xfa.1_Missense_Mutation_p.A50V|TMX3_uc002lkg.3_Missense_Mutation_p.A50V	29	GBM-06-0158-TP	p.A50V	G	ACACCATGGCGCATAAAACTT	NM_019022	NP_061895	66377374	Q96JJ7	TMX3_HUMAN	0			4	284	-	A	A			Missense_Mutation	50			Thioredoxin.|Lumenal (Potential).			
TNC	0	broad.mit.edu	GRCh37	9	117783441	117783441	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0688-01	TCGA-12-0688-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000350763.4:c.6601G>A	p.Ala2201Thr	p.A2201T	ENST00000350763	NM_002160.3	2201	Gca/Aca	0			1			T	A/T	uc004bjj.3	protein_coding	YES	CCDS6811.1			6601/6606									central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7	c.(6601-6603)GCA>ACA				tenascin C precursor				ENSP00000265131		28/28									COSM3413295	28/28	.		ENST00000350763	Transcript	1		cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	ENSG00000041982	g.chr9:117783441C>T	5318			MODERATE		0.2	neutral	getma.org/?cm=msa&ty=f&p=TENA_HUMAN&rb=2160&re=2201&var=A2201T	NA	getma.org/?cm=var&var=hg19,9,117783441,C,T&fts=all	A2201T	--	--	1																																		TNC_uc010mvf.2_Missense_Mutation_p.A1928T	1	1		possibly_damaging(0.488)	p.A2201T	NM_002160	NP_002151		deleterious(0)	1	TENA_HUMAN	TNC	HGNC	P24821	TENA_HUMAN			F5H5D6_HUMAN		28	6963	-			UPI000013D5BD	2201					SNV	TNC,missense_variant,p.Ala2201Thr,ENST00000350763,NM_002160.3;TNC,missense_variant,p.Ala2019Thr,ENST00000341037,;TNC,missense_variant,p.Ala1837Thr,ENST00000340094,;TNC,missense_variant,p.Ala1928Thr,ENST00000423613,;TNC,missense_variant,p.Ala1746Thr,ENST00000535648,;TNC,missense_variant,p.Ala1655Thr,ENST00000346706,;TNC,missense_variant,p.Ala1564Thr,ENST00000345230,;TNC,missense_variant,p.Ala1838Thr,ENST00000542877,;TNC,missense_variant,p.Ala1564Thr,ENST00000537320,;	uc004bjj.3	c.6601G>A	7013/7641	1	1			c.6601G>A						9	SNP	c.(6601-6603)GCA>ACA	9	9			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7	Broad	tenascin C precursor			117783441		0.502	ENSG00000041982	16020	g.chr9:117783441C>T	cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding							-8.863777	KEEP	3	2	-1	48	31	3	2	-1	7.213118	48	31	0.052632	1	0	0	0	0	1	0	0	0	--	--		0	T			TNC_uc010mvf.2_Missense_Mutation_p.A1928T	121	GBM-12-0688-TP	p.A2201T	C	GGAATTTATGCCCGTTTGCGC	NM_002160	NP_002151	117783441	P24821	TENA_HUMAN	0			28	6963	-	T	T			Missense_Mutation	2201						
TNC	3371		GRCh37	9	117844148	117844148	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0151-01	TCGA-06-0151-01																				ENST00000350763.4:c.2307G>A	p.Arg769=	p.R769=	ENST00000350763	NM_002160.3	769	cgG/cgA	0																																																																																																																																																																																																																																												
TNFAIP1	0	broad.mit.edu	GRCh37	17	26666722	26666722	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000226225.2:c.175G>A	p.Gly59Arg	p.G59R	ENST00000226225	NM_021137.4	59	Ggg/Agg	0			1			A	G/R	uc002hax.1	protein_coding	YES	CCDS11227.1			175/951										0	c.(175-177)GGG>AGG			Gene3D:3.30.710.10,Pfam_domain:PF02214,PROSITE_profiles:PS50097,hmmpanther:PTHR11145,hmmpanther:PTHR11145:SF17,SMART_domains:SM00225,Superfamily_domains:SSF54695	tumor necrosis factor, alpha-induced protein 1				ENSP00000226225		7-Feb									COSM3402682	7-Feb	.		ENST00000226225	Transcript			apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity	ENSG00000109079	g.chr17:26666722G>A	11894			MODERATE		2.795	medium	getma.org/?cm=msa&ty=f&p=BACD2_HUMAN&rb=30&re=120&var=G59R	getma.org/pdb.php?prot=BACD2_HUMAN&from=30&to=120&var=G59R	getma.org/?cm=var&var=hg19,17,26666722,G,A&fts=all	G59R	--	--	1																																		TNFAIP1_uc002hay.2_Missense_Mutation_p.G59R|TNFAIP1_uc010waf.1_Intron	1	1		possibly_damaging(0.887)	p.G59R	NM_021137	NP_066960		deleterious(0.02)	1	BACD2_HUMAN	TNFAIP1	HGNC	Q13829	BACD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	J3QSD4_HUMAN,J3QS43_HUMAN,B7Z6M4_HUMAN		2	194	+	all_lung(13;0.000294)|Lung NSC(42;0.000964)		UPI00001370D5	59			BTB.		SNV	TNFAIP1,missense_variant,p.Gly59Arg,ENST00000226225,NM_021137.4;TNFAIP1,missense_variant,p.Gly59Arg,ENST00000582302,;TNFAIP1,missense_variant,p.Gly59Arg,ENST00000578158,;TNFAIP1,intron_variant,,ENST00000544907,;IFT20,upstream_gene_variant,,ENST00000585089,NM_001267774.1;IFT20,upstream_gene_variant,,ENST00000357896,NM_174887.3;IFT20,upstream_gene_variant,,ENST00000585313,NM_001267775.1;IFT20,upstream_gene_variant,,ENST00000578122,;IFT20,upstream_gene_variant,,ENST00000578985,;IFT20,upstream_gene_variant,,ENST00000395418,NM_001267776.1;IFT20,upstream_gene_variant,,ENST00000579419,NM_001267777.1;IFT20,upstream_gene_variant,,ENST00000577498,;TNFAIP1,upstream_gene_variant,,ENST00000577535,;TNFAIP1,intron_variant,,ENST00000583213,;IFT20,upstream_gene_variant,,ENST00000582797,;IFT20,upstream_gene_variant,,ENST00000578547,;IFT20,upstream_gene_variant,,ENST00000322326,;IFT20,upstream_gene_variant,,ENST00000580357,;IFT20,upstream_gene_variant,,ENST00000580991,;	uc002hax.1	c.175G>A	442/3627	2	2			c.175G>A						17	SNP	c.(175-177)GGG>AGG	20	20				0	Broad	tumor necrosis factor, alpha-induced protein 1			26666722		0.617	ENSG00000109079	16022	g.chr17:26666722G>A	apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity							88.684197	KEEP	23	19	-1	23	18	23	19	-1	88.688275	23	18	0.491228	1	0	0	0	0	1	0	0	0	--	--		0	A			TNFAIP1_uc002hay.2_Missense_Mutation_p.G59R|TNFAIP1_uc010waf.1_Intron	177	GBM-19-5959-TP	p.G59R	G	CATGTTCAGTGGGCGCATGGA	NM_021137	NP_066960	26666722	Q13829	BACD2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	2	194	+	A	A	all_lung(13;0.000294)|Lung NSC(42;0.000964)		Missense_Mutation	59			BTB.			
TNFAIP8	0	broad.mit.edu	GRCh37	5	118728680	118728680	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-4932-01	TCGA-76-4932-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000503646.1:c.201G>T	p.Glu67Asp	p.E67D	ENST00000503646	NM_001286813.1	67	gaG/gaT	0			1			T	E/D	uc003ksh.2	protein_coding		CCDS47258.1			201/597									ovary(1)	1	c.(199-201)GAG>GAT			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF05527,hmmpanther:PTHR12757,hmmpanther:PTHR12757:SF3	tumor necrosis factor, alpha-induced protein 8				ENSP00000421848		3-Mar									COSM3409675	3-Mar	.		ENST00000503646	Transcript			anti-apoptosis|apoptosis|negative regulation of anti-apoptosis	cytoplasm	caspase inhibitor activity|protein binding	ENSG00000145779	g.chr5:118728680G>T	17260			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=TFIP8_HUMAN&rb=13&re=198&var=E67D	getma.org/pdb.php?prot=TFIP8_HUMAN&from=13&to=198&var=E67D	getma.org/?cm=var&var=hg19,5,118728680,G,T&fts=all	E67D	--	--	1																																		TNFAIP8_uc003ksf.1_Intron|TNFAIP8_uc003ksg.2_Missense_Mutation_p.E57D|TNFAIP8_uc011cwf.1_Missense_Mutation_p.E61D|TNFAIP8_uc003ksi.2_Missense_Mutation_p.E67D	1			benign(0.028)	p.E67D	NM_014350	NP_055165		tolerated(0.07)	1	TFIP8_HUMAN	TNFAIP8	HGNC	O95379	TFIP8_HUMAN		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)	E5RIJ3_HUMAN		3	889	+		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)	UPI000006EB3E	67			Potential.		SNV	TNFAIP8,missense_variant,p.Glu67Asp,ENST00000504771,NM_014350.3;TNFAIP8,missense_variant,p.Glu67Asp,ENST00000503646,NM_001286813.1;TNFAIP8,missense_variant,p.Glu79Asp,ENST00000513374,NM_001286814.1;TNFAIP8,missense_variant,p.Glu57Asp,ENST00000274456,NM_001077654.2;TNFAIP8,missense_variant,p.Glu69Asp,ENST00000504642,;TNFAIP8,missense_variant,p.Glu35Asp,ENST00000388882,;TNFAIP8,3_prime_UTR_variant,,ENST00000415806,;	uc003ksh.2	c.201G>T	889/2502	1	1			c.201G>T						5	SNP	c.(199-201)GAG>GAT	7	7			ovary(1)	1	Broad	tumor necrosis factor, alpha-induced protein 8			118728680		0.443	ENSG00000145779	16026	g.chr5:118728680G>T	anti-apoptosis|apoptosis|negative regulation of anti-apoptosis	cytoplasm	caspase inhibitor activity|protein binding							52.243139	KEEP	9	11	0.45	13	12	9	11	0.45	52.330496	13	12	0.45	1	0	0	0	0	1	0	0	0	--	--		0	T			TNFAIP8_uc003ksf.1_Intron|TNFAIP8_uc003ksg.2_Missense_Mutation_p.E57D|TNFAIP8_uc011cwf.1_Missense_Mutation_p.E61D|TNFAIP8_uc003ksi.2_Missense_Mutation_p.E67D	271	GBM-76-4932-TP	p.E67D	G	ACAAGAAGGAGGCAGAGAAGA	NM_014350	NP_055165	118728680	O95379	TFIP8_HUMAN	0		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)	3	889	+	T	T		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)	Missense_Mutation	67			Potential.			
TNFRSF10C	8794		GRCh37	8	22972207	22972207	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000356864.3:c.204G>A	p.Pro68=	p.P68=	ENST00000356864	NM_003841.3	68	ccG/ccA	0																																																																																																																																																																																																																																												
TNFRSF11A	8792	broad.mit.edu	GRCh37	18	60025550	60025550	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000586569.1:c.497C>T	p.Thr166Met	p.T166M	ENST00000586569	NM_001278268.1	166	aCg/aTg	0	T:0		1			T	T/M	uc002lin.2	protein_coding	YES	CCDS11980.1			497/1851									breast(2)|lung(1)	3	c.(496-498)ACG>ATG			Gene3D:2.10.50.10,hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF29,SMART_domains:SM00208,Superfamily_domains:SSF57586	tumor necrosis factor receptor superfamily,			T:0.0001	ENSP00000465500		10-May	5.77E-05					6.00E-05		0.000182	rs376096275,COSM2149110	10-May	.	Paget_Disease_of_Bone	ENST00000586569	Transcript	1		adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	ENSG00000141655	g.chr18:60025550C>T	11908			MODERATE		2.44	medium	getma.org/?cm=msa&ty=f&p=TNR11_HUMAN&rb=69&re=214&var=T166M	getma.org/pdb.php?prot=TNR11_HUMAN&from=69&to=214&var=T166M	getma.org/?cm=var&var=hg19,18,60025550,C,T&fts=all	T166M	--	--	1																																		TNFRSF11A_uc010dpv.2_Missense_Mutation_p.T166M	0,1	1		benign(0.277)	p.T166M	NM_003839	NP_003830		deleterious(0.05)	0,1	TNR11_HUMAN	TNFRSF11A	HGNC	Q9Y6Q6	TNR11_HUMAN			N0GVH0_HUMAN		5	535	+		Colorectal(73;0.188)	UPI000003BC8A	166			TNFR-Cys 4.|Extracellular (Potential).		SNV	TNFRSF11A,missense_variant,p.Thr166Met,ENST00000586569,NM_001278268.1,NM_003839.3,NM_001270949.1;TNFRSF11A,missense_variant,p.Thr166Met,ENST00000269485,NM_001270951.1,NM_001270950.1;TNFRSF11A,non_coding_transcript_exon_variant,,ENST00000587697,;	uc002lin.2	c.497C>T	535/8138	2	2			c.497C>T						18	SNP	c.(496-498)ACG>ATG	32	32			breast(2)|lung(1)	3	Broad	tumor necrosis factor receptor superfamily,			60025550	Paget_Disease_of_Bone	0.448	ENSG00000141655	16034	g.chr18:60025550C>T	adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity							138.746756	KEEP	29	28	-1	89	90	29	28	-1	149.301323	89	90	0.262136	1	0	0	0	0	1	0	0	0	--	--		0	T			TNFRSF11A_uc010dpv.2_Missense_Mutation_p.T166M	5	GBM-02-2470-TP	p.T166M	C	TTTTCCTCCACGGACAAATGC	NM_003839	NP_003830	60025550	Q9Y6Q6	TNR11_HUMAN	0			5	535	+	T	T		Colorectal(73;0.188)	Missense_Mutation	166			TNFR-Cys 4.|Extracellular (Potential).			
TNFRSF11A	0	broad.mit.edu	GRCh37	18	60036664	60036664	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5960-01	TCGA-19-5960-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000586569.1:c.1514C>T	p.Ala505Val	p.A505V	ENST00000586569	NM_001278268.1	505	gCg/gTg	0			1			T	A/V	uc002lin.2	protein_coding	YES	CCDS11980.1			1514/1851									breast(2)|lung(1)	3	c.(1513-1515)GCG>GTG			hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF29,Low_complexity_(Seg):seg	tumor necrosis factor receptor superfamily,				ENSP00000465500		10-Sep	1.69E-05					3.19E-05			rs761595131,COSM3403601	10-Sep	.	Paget_Disease_of_Bone	ENST00000586569	Transcript	1		adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	ENSG00000141655	g.chr18:60036664C>T	11908			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TNR11_HUMAN&rb=215&re=614&var=A505V	NA	getma.org/?cm=var&var=hg19,18,60036664,C,T&fts=all	A505V	--	--	1																																		TNFRSF11A_uc010dpv.2_Intron	0,1	1		benign(0.007)	p.A505V	NM_003839	NP_003830		tolerated(0.16)	0,1	TNR11_HUMAN	TNFRSF11A	HGNC	Q9Y6Q6	TNR11_HUMAN			N0GVH0_HUMAN		9	1552	+		Colorectal(73;0.188)	UPI000003BC8A	505			Cytoplasmic (Potential).		SNV	TNFRSF11A,missense_variant,p.Ala505Val,ENST00000586569,NM_001278268.1,NM_003839.3,NM_001270949.1;TNFRSF11A,intron_variant,,ENST00000269485,NM_001270951.1,NM_001270950.1;RP11-640A1.3,downstream_gene_variant,,ENST00000589084,;	uc002lin.2	c.1514C>T	1552/8138	1	1			c.1514C>T						18	SNP	c.(1513-1515)GCG>GTG	15	15			breast(2)|lung(1)	3	Broad	tumor necrosis factor receptor superfamily,			60036664	Paget_Disease_of_Bone	0.632	ENSG00000141655	16034	g.chr18:60036664C>T	adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity							117.424332	KEEP	19	20	-1	1	7	19	20	-1	122.076804	1	7	0.837209	1	0	0	0	0	1	0	0	0	--	--		0	T			TNFRSF11A_uc010dpv.2_Intron	178	GBM-19-5960-TP	p.A505V	C	CCAAGCTCAGCGAGGGCAGGT	NM_003839	NP_003830	60036664	Q9Y6Q6	TNR11_HUMAN	0			9	1552	+	T	T		Colorectal(73;0.188)	Missense_Mutation	505			Cytoplasmic (Potential).			
TNFRSF11A	0	broad.mit.edu	GRCh37	18	60021766	60021766	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	rs139968917		TCGA-27-2523-01	TCGA-27-2523-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000586569.1:c.426G>A	p.Pro142=	p.P142=	ENST00000586569	NM_001278268.1	142	ccG/ccA	0	C:0.0002	C:0	1	C:0		A	P	uc002lin.2	protein_coding	YES	CCDS11980.1			426/1851									breast(2)|lung(1)	3	c.(424-426)CCG>CCA			Gene3D:2.10.50.10,hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF29,SMART_domains:SM00208,Superfamily_domains:SSF57586	tumor necrosis factor receptor superfamily,		C:0	C:0	ENSP00000465500	C:0.001	10-Apr	4.97E-05			0.000613		1.62E-05			rs139968917,COSM3403599	10-Apr	common_variant	Paget_Disease_of_Bone	ENST00000586569	Transcript	1	C:0.0002	adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	ENSG00000141655	g.chr18:60021766G>A	11908			LOW								--	--	1																																		TNFRSF11A_uc010dpv.2_Silent_p.P142P	0,1	1			p.P142P	NM_003839	NP_003830	C:0		0,1	TNR11_HUMAN	TNFRSF11A	HGNC	Q9Y6Q6	TNR11_HUMAN			N0GVH0_HUMAN		4	464	+		Colorectal(73;0.188)	UPI000003BC8A	142			Extracellular (Potential).|TNFR-Cys 3.		SNV	TNFRSF11A,splice_region_variant,p.=,ENST00000586569,NM_001278268.1,NM_003839.3,NM_001270949.1;TNFRSF11A,splice_region_variant,p.=,ENST00000269485,NM_001270951.1,NM_001270950.1;TNFRSF11A,upstream_gene_variant,,ENST00000587697,;	uc002lin.2	c.426G>A	464/8138	2	2			c.426G>A						18	SNP	c.(424-426)CCG>CCA	45	45			breast(2)|lung(1)	3	Broad	tumor necrosis factor receptor superfamily,			60021766	Paget_Disease_of_Bone	0.647	ENSG00000141655	16034	g.chr18:60021766G>A	adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity							87.540799	KEEP	20	17	-1	29	27	20	17	-1	88.194556	29	27	0.4	1	0	0	0	0	0	0	1	0	--	--		0	A			TNFRSF11A_uc010dpv.2_Silent_p.P142P	201	GBM-27-2523-TP	p.P142P	G	CCCAGCACCCGTGTACGGGTT	NM_003839	NP_003830	60021766	Q9Y6Q6	TNR11_HUMAN	0			4	464	+	A	A		Colorectal(73;0.188)	Silent	142			Extracellular (Potential).|TNFR-Cys 3.			
TNFRSF11A	0	broad.mit.edu	GRCh37	18	60017106	60017106	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000586569.1:c.219G>A	p.Pro73=	p.P73=	ENST00000586569	NM_001278268.1	73	ccG/ccA	0			1			A	P	uc002lin.2	protein_coding	YES	CCDS11980.1			219/1851									breast(2)|lung(1)	3	c.(217-219)CCG>CCA			Gene3D:2.10.50.10,hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF29,SMART_domains:SM00208,Superfamily_domains:SSF57586	tumor necrosis factor receptor superfamily,				ENSP00000465500		10-Mar	4.12E-05			0.000462				6.06E-05	rs780909910,COSM460107	10-Mar	common_variant	Paget_Disease_of_Bone	ENST00000586569	Transcript	1		adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	ENSG00000141655	g.chr18:60017106G>A	11908			LOW								--	--	1																																		TNFRSF11A_uc010dpv.2_Silent_p.P73P	0,1	1			p.P73P	NM_003839	NP_003830			0,1	TNR11_HUMAN	TNFRSF11A	HGNC	Q9Y6Q6	TNR11_HUMAN			N0GVH0_HUMAN		3	257	+		Colorectal(73;0.188)	UPI000003BC8A	73			TNFR-Cys 2.|Extracellular (Potential).		SNV	TNFRSF11A,synonymous_variant,p.=,ENST00000586569,NM_001278268.1,NM_003839.3,NM_001270949.1;TNFRSF11A,synonymous_variant,p.=,ENST00000269485,NM_001270951.1,NM_001270950.1;	uc002lin.2	c.219G>A	257/8138	1	1			c.219G>A						18	SNP	c.(217-219)CCG>CCA	52	52			breast(2)|lung(1)	3	Broad	tumor necrosis factor receptor superfamily,			60017106	Paget_Disease_of_Bone	0.418	ENSG00000141655	16034	g.chr18:60017106G>A	adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity							238.752145	KEEP	38	49	-1	118	99	38	49	-1	249.500308	118	99	0.292857	1	0	0	0	0	0	0	1	0	--	--		0	A			TNFRSF11A_uc010dpv.2_Silent_p.P73P	240	GBM-32-2632-TP	p.P73P	G	CCTGTGGCCCGGATGAATACT	NM_003839	NP_003830	60017106	Q9Y6Q6	TNR11_HUMAN	0			3	257	+	A	A		Colorectal(73;0.188)	Silent	73			TNFR-Cys 2.|Extracellular (Potential).			
TNFRSF19	55504		GRCh37	13	24233260	24233260	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000382258.4:c.517G>A	p.Val173Ile	p.V173I	ENST00000382258	NM_018647.3	173	Gtt/Att	0																																																																																																																																																																																																																																												
TNFRSF1A	0	broad.mit.edu	GRCh37	12	6442637	6442637	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-4934-01	TCGA-76-4934-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000162749.2:c.368C>A	p.Thr123Asn	p.T123N	ENST00000162749	NM_001065.3	123	aCc/aAc	0			1			T	T/N	uc001qnu.2	protein_coding	YES	CCDS8542.1			368/1368									lung(2)|skin(1)	3	c.(367-369)ACC>AAC			Gene3D:2.10.50.10,Pfam_domain:PF00020,PROSITE_patterns:PS00652,PROSITE_profiles:PS50050,hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF110,SMART_domains:SM00208,Superfamily_domains:SSF57586	tumor necrosis factor receptor 1 precursor				ENSP00000162749		10-Apr									COSM3398983	10-Apr	.		ENST00000162749	Transcript	1		apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity	ENSG00000067182	g.chr12:6442637G>T	11916			MODERATE		2.69	medium	getma.org/?cm=msa&ty=f&p=TNR1A_HUMAN&rb=84&re=125&var=T123N	getma.org/pdb.php?prot=TNR1A_HUMAN&from=84&to=125&var=T123N	getma.org/?cm=var&var=hg19,12,6442637,G,T&fts=all	T123N	--	--	1																																		TNFRSF1A_uc001qnt.2_Missense_Mutation_p.T15N|TNFRSF1A_uc010sey.1_Intron|TNFRSF1A_uc010sez.1_Missense_Mutation_p.T15N|TNFRSF1A_uc009zek.2_Missense_Mutation_p.T80N|TNFRSF1A_uc010sfa.1_Missense_Mutation_p.T123N	1	1		probably_damaging(1)	p.T123N	NM_001065	NP_001056		deleterious(0)	1	TNR1A_HUMAN	TNFRSF1A	HGNC	P19438	TNR1A_HUMAN			J9PH39_HUMAN,F5H4T5_HUMAN		4	649	-			UPI000002CE11	123			TNFR-Cys 2.|Extracellular (Potential).		SNV	TNFRSF1A,missense_variant,p.Thr123Asn,ENST00000162749,NM_001065.3;TNFRSF1A,missense_variant,p.Thr80Asn,ENST00000540022,;TNFRSF1A,missense_variant,p.Thr123Asn,ENST00000366159,;TNFRSF1A,missense_variant,p.Thr123Asn,ENST00000539372,;TNFRSF1A,missense_variant,p.Thr123Asn,ENST00000440083,;TNFRSF1A,missense_variant,p.Thr114Asn,ENST00000536194,;PLEKHG6,downstream_gene_variant,,ENST00000449001,NM_001144857.1;PLEKHG6,downstream_gene_variant,,ENST00000396988,NM_001144856.1;PLEKHG6,downstream_gene_variant,,ENST00000011684,NM_018173.3;PLEKHG6,downstream_gene_variant,,ENST00000304581,;TNFRSF1A,non_coding_transcript_exon_variant,,ENST00000437813,;TNFRSF1A,upstream_gene_variant,,ENST00000543359,;TNFRSF1A,upstream_gene_variant,,ENST00000535038,;TNFRSF1A,downstream_gene_variant,,ENST00000535958,;TNFRSF1A,downstream_gene_variant,,ENST00000538363,;TNFRSF1A,upstream_gene_variant,,ENST00000537842,;TNFRSF1A,missense_variant,p.Pro72Thr,ENST00000534885,;TNFRSF1A,intron_variant,,ENST00000543995,;TNFRSF1A,intron_variant,,ENST00000543048,;TNFRSF1A,upstream_gene_variant,,ENST00000536717,;	uc001qnu.2	c.368C>A	668/2223	2	2			c.368C>A						12	SNP	c.(367-369)ACC>AAC	44	44			lung(2)|skin(1)	3	Broad	tumor necrosis factor receptor 1 precursor			6442637		0.552	ENSG00000067182	16043	g.chr12:6442637G>T	apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			109			109	95.96338	KEEP	16	19	0.457142857	24	30	16	19	0.457142857	96.72276	24	30	0.39759	1	0	0	0	0	1	0	0	0	--	--		0	T			TNFRSF1A_uc001qnt.2_Missense_Mutation_p.T15N|TNFRSF1A_uc010sey.1_Intron|TNFRSF1A_uc010sez.1_Missense_Mutation_p.T15N|TNFRSF1A_uc009zek.2_Missense_Mutation_p.T80N|TNFRSF1A_uc010sfa.1_Missense_Mutation_p.T123N	272	GBM-76-4934-TP	p.T123N	G	GCCACACACGGTGTCCCGGTC	NM_001065	NP_001056	6442637	P19438	TNR1A_HUMAN	0			4	649	-	T	T			Missense_Mutation	123			TNFR-Cys 2.|Extracellular (Potential).			
TNFRSF4	7293	broad.mit.edu	GRCh37	1	1149465	1149465	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01	TCGA-06-0174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379236.3:c.43G>A	p.Ala15Thr	p.A15T	ENST00000379236	NM_003327.3	15	Gct/Act	0			1			T	A/T	uc001ade.2	protein_coding	YES	CCDS11.1			43/834										0	c.(43-45)GCT>ACT			hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF12,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	tumor necrosis factor receptor superfamily,				ENSP00000368538		7-Jan									COSM3399555	7-Jan	.		ENST00000379236	Transcript			immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity	ENSG00000186827	g.chr1:1149465C>T	11918			MODERATE		1.75	low	getma.org/?cm=msa&ty=f&p=TNR4_HUMAN&rb=1&re=30&var=A15T	NA	getma.org/?cm=var&var=hg19,1,1149465,C,T&fts=all	A15T	--	--	1																																		TNFRSF4_uc001adf.2_5'UTR	1	1		unknown(0)	p.A15T	NM_003327	NP_003318		deleterious(0.01)	1	TNR4_HUMAN	TNFRSF4	HGNC	P43489	TNR4_HUMAN		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)			1	48	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	UPI00001370E5	15					SNV	TNFRSF4,missense_variant,p.Ala15Thr,ENST00000379236,NM_003327.3;SDF4,downstream_gene_variant,,ENST00000263741,NM_016176.3,NM_016547.2;SDF4,downstream_gene_variant,,ENST00000360001,;SDF4,downstream_gene_variant,,ENST00000403997,;TNFRSF4,upstream_gene_variant,,ENST00000453580,;TNFRSF4,non_coding_transcript_exon_variant,,ENST00000497869,;SDF4,downstream_gene_variant,,ENST00000494748,;SDF4,downstream_gene_variant,,ENST00000478938,;SDF4,downstream_gene_variant,,ENST00000465727,;	uc001ade.2	c.43G>A	48/1068	1	1			c.43G>A						1	SNP	c.(43-45)GCT>ACT	6	6				0	Broad	tumor necrosis factor receptor superfamily,			1149465		0.692	ENSG00000186827	16047	g.chr1:1149465C>T	immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			139			139	29.362513	KEEP	6	4	-1	2	4	6	4	-1	29.589146	2	4	0.625	1	0	0	0	0	1	0	0	0	--	--		0	T			TNFRSF4_uc001adf.2_5'UTR	37	GBM-06-0174-TP	p.A15T	C	AGGAGCAGAGCCGCACACGGC	NM_003327	NP_003318	1149465	P43489	TNR4_HUMAN	0		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	1	48	-	T	T	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	Missense_Mutation	15						
TNFRSF4	0	broad.mit.edu	GRCh37	1	1149428	1149428	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-3915-01	TCGA-41-3915-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379236.3:c.80C>T	p.Thr27Met	p.T27M	ENST00000379236	NM_003327.3	27	aCg/aTg	0			1			A	T/M	uc001ade.2	protein_coding	YES	CCDS11.1			80/834										0	c.(79-81)ACG>ATG			hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF12,Cleavage_site_(Signalp):SignalP-noTM	tumor necrosis factor receptor superfamily,				ENSP00000368538		7-Jan	8.31E-06								rs775900244,COSM3399554	7-Jan	.		ENST00000379236	Transcript			immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity	ENSG00000186827	g.chr1:1149428G>A	11918			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TNR4_HUMAN&rb=1&re=30&var=T27M	NA	getma.org/?cm=var&var=hg19,1,1149428,G,A&fts=all	T27M	--	--	1																																		TNFRSF4_uc001adf.2_Translation_Start_Site	0,1	1		benign(0.212)	p.T27M	NM_003327	NP_003318		deleterious(0.01)	0,1	TNR4_HUMAN	TNFRSF4	HGNC	P43489	TNR4_HUMAN		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)			1	85	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	UPI00001370E5	27					SNV	TNFRSF4,missense_variant,p.Thr27Met,ENST00000379236,NM_003327.3;SDF4,downstream_gene_variant,,ENST00000263741,NM_016176.3,NM_016547.2;SDF4,downstream_gene_variant,,ENST00000360001,;SDF4,downstream_gene_variant,,ENST00000403997,;TNFRSF4,upstream_gene_variant,,ENST00000453580,;TNFRSF4,non_coding_transcript_exon_variant,,ENST00000497869,;SDF4,downstream_gene_variant,,ENST00000494748,;SDF4,downstream_gene_variant,,ENST00000478938,;SDF4,downstream_gene_variant,,ENST00000465727,;	uc001ade.2	c.80C>T	85/1068	1	1			c.80C>T						1	SNP	c.(79-81)ACG>ATG	54	54				0	Broad	tumor necrosis factor receptor superfamily,			1149428		0.726	ENSG00000186827	16047	g.chr1:1149428G>A	immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			139			139	13.571936	KEEP	3	3	-1	3	4	3	3	-1	13.64488	3	4	0.416667	1	0	0	0	0	1	0	0	0	--	--		0	A			TNFRSF4_uc001adf.2_Translation_Start_Site	256	GBM-41-3915-TP	p.T27M	G	GTGGAGCCCCGTCACGGTGCT	NM_003327	NP_003318	1149428	P43489	TNR4_HUMAN	0		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	1	85	-	A	A	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	Missense_Mutation	27						
TNFRSF4	0	broad.mit.edu	GRCh37	1	1147004	1147004	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379236.3:c.765G>A	p.Gly255=	p.G255=	ENST00000379236	NM_003327.3	255	ggG/ggA	0			1			T	G	uc001ade.2	protein_coding	YES	CCDS11.1			765/834										0	c.(763-765)GGG>GGA			Prints_domain:PR01921,hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF12	tumor necrosis factor receptor superfamily,				ENSP00000368538		7-Jul									COSM3399553	7-Jul	.		ENST00000379236	Transcript			immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity	ENSG00000186827	g.chr1:1147004C>T	11918			LOW								--	--	1																																		TNFRSF4_uc001adf.2_Silent_p.G285G	1	1			p.G255G	NM_003327	NP_003318			1	TNR4_HUMAN	TNFRSF4	HGNC	P43489	TNR4_HUMAN		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)			7	770	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	UPI00001370E5	255			Cytoplasmic (Potential).		SNV	TNFRSF4,splice_region_variant,p.=,ENST00000379236,NM_003327.3;TNFRSF18,upstream_gene_variant,,ENST00000379268,NM_004195.2,NM_148902.1;TNFRSF4,downstream_gene_variant,,ENST00000453580,;TNFRSF4,non_coding_transcript_exon_variant,,ENST00000497869,;	uc001ade.2	c.765G>A	770/1068	2	2			c.765G>A						1	SNP	c.(763-765)GGG>GGA	33	33				0	Broad	tumor necrosis factor receptor superfamily,			1147004		0.677	ENSG00000186827	16047	g.chr1:1147004C>T	immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			139			139	26.90444	KEEP	10	4	-1	18	21	10	4	-1	29.404171	18	21	0.25	1	0	0	0	0	0	0	1	0	--	--		0	T			TNFRSF4_uc001adf.2_Silent_p.G285G	269	GBM-76-4929-TP	p.G255G	C	AACTGCCTCCCCCTGGGGAGG	NM_003327	NP_003318	1147004	P43489	TNR4_HUMAN	0		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	7	770	-	T	T	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	Silent	255			Cytoplasmic (Potential).			
TNFRSF8	0	broad.mit.edu	GRCh37	1	12170201	12170201	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-12-0821-01	TCGA-12-0821-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263932.2:c.616T>A	p.Ser206Thr	p.S206T	ENST00000263932	NM_001243.3	206	Tct/Act	0			1			A	S/T	uc001atq.2	protein_coding	YES	CCDS144.1			616/1788									skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	5	c.(616-618)TCT>ACT			hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF85	tumor necrosis factor receptor superfamily,				ENSP00000263932		15-Jun									COSM3399617	15-Jun	.		ENST00000263932	Transcript			cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		ENSG00000120949	g.chr1:12170201T>A	11923			MODERATE		1.43	low	getma.org/?cm=msa&ty=f&p=TNR8_HUMAN&rb=107&re=243&var=S206T	NA	getma.org/?cm=var&var=hg19,1,12170201,T,A&fts=all	S206T	--	--	1																																		TNFRSF8_uc010obc.1_Missense_Mutation_p.S95T	1	1		possibly_damaging(0.858)	p.S206T	NM_001243	NP_001234		tolerated(0.07)	1		TNFRSF8	HGNC	P28908	TNR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	A5D8T4_HUMAN		6	838	+	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	UPI000013D48C	206			Extracellular (Potential).|TNFR-Cys 4.		SNV	TNFRSF8,missense_variant,p.Ser206Thr,ENST00000263932,NM_001243.3;TNFRSF8,missense_variant,p.Ser95Thr,ENST00000417814,NM_001281430.1;TNFRSF8,3_prime_UTR_variant,,ENST00000514649,;	uc001atq.2	c.616T>A	838/3686	2	2			c.616T>A						1	SNP	c.(616-618)TCT>ACT	22	22			skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	5	Broad	tumor necrosis factor receptor superfamily,			12170201		0.632	ENSG00000120949	16049	g.chr1:12170201T>A	cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				756			756	-5.680179	KEEP	6	6	-1	94	69	6	6	-1	15.781849	94	69	0.070796	1	0	0	0	0	1	0	0	0	--	--		0	A			TNFRSF8_uc010obc.1_Missense_Mutation_p.S95T	123	GBM-12-0821-TP	p.S206T	T	GGAAGCTGCTTCTAAACTGAC	NM_001243	NP_001234	12170201	P28908	TNR8_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	6	838	+	A	A	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	206			Extracellular (Potential).|TNFR-Cys 4.			
TNFRSF8	943		GRCh37	1	12172043	12172043	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000263932.2:c.765C>T	p.Arg255=	p.R255=	ENST00000263932	NM_001243.3	255	cgC/cgT	0																																																																																																																																																																																																																																												
TNFRSF9	0	broad.mit.edu	GRCh37	1	7998781	7998781	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-5954-01	TCGA-19-5954-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377507.3:c.208G>T	p.Gly70Cys	p.G70C	ENST00000377507	NM_001561.5	70	Ggt/Tgt	0			1			A	G/C	uc001aot.2	protein_coding	YES	CCDS92.1			208/768									large_intestine(1)|lung(1)|ovary(1)|skin(1)	4	c.(208-210)GGT>TGT			PROSITE_profiles:PS50050,hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF97,Pfam_domain:PF00020,Gene3D:2.10.50.10,SMART_domains:SM00208,Superfamily_domains:SSF57184	tumor necrosis factor receptor superfamily,				ENSP00000366729		8-Mar									COSM464979	8-Mar	.		ENST00000377507	Transcript			induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	ENSG00000049249	g.chr1:7998781C>A	11924			MODERATE		1.495	low	getma.org/?cm=msa&ty=f&p=TNR9_HUMAN&rb=48&re=86&var=G70C	NA	getma.org/?cm=var&var=hg19,1,7998781,C,A&fts=all	G70C	--	--	1																																			1	1		probably_damaging(1)	p.G70C	NM_001561	NP_001552		deleterious(0)	1	TNR9_HUMAN	TNFRSF9	HGNC	Q07011	TNR9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)			3	336	-	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	UPI00001370F1	70			TNFR-Cys 2.|Extracellular (Potential).		SNV	TNFRSF9,missense_variant,p.Gly70Cys,ENST00000377507,NM_001561.5;TNFRSF9,upstream_gene_variant,,ENST00000474475,;TNFRSF9,upstream_gene_variant,,ENST00000492571,;RP5-892F13.2,upstream_gene_variant,,ENST00000603760,;	uc001aot.2	c.208G>T	375/1923	1	1			c.208G>T						1	SNP	c.(208-210)GGT>TGT	61	61			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4	Broad	tumor necrosis factor receptor superfamily,			7998781		0.398	ENSG00000049249	16050	g.chr1:7998781C>A	induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			106			106	158.09094	KEEP	38	31	0.449275362	65	72	38	31	0.449275362	163.812794	65	72	0.313514	1	0	0	0	0	1	0	0	0	--	--		0	A				174	GBM-19-5954-TP	p.G70C	C	GAACTCATACCTTTACACTGC	NM_001561	NP_001552	7998781	Q07011	TNR9_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)	3	336	-	A	A	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	70			TNFR-Cys 2.|Extracellular (Potential).			
TNFSF10	0	broad.mit.edu	GRCh37	3	172232698	172232698	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-4208-01	TCGA-32-4208-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000241261.2:c.223A>G	p.Ser75Gly	p.S75G	ENST00000241261	NM_003810.3	75	Agc/Ggc	0			1			C	S/G	uc003fid.2	protein_coding	YES	CCDS3219.1			223/846									skin(4)|lung(1)	5	c.(223-225)AGC>GGC			PIRSF_domain:PIRSF038013,hmmpanther:PTHR11471,hmmpanther:PTHR11471:SF27	tumor necrosis factor (ligand) superfamily,				ENSP00000241261		5-Feb	8.24E-06							6.06E-05	rs755583625,COSM3408437	5-Feb	.		ENST00000241261	Transcript			activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding	ENSG00000121858	g.chr3:172232698T>C	11925			MODERATE		1.525	low	getma.org/?cm=msa&ty=f&p=TNF10_HUMAN&rb=1&re=151&var=S75G	NA	getma.org/?cm=var&var=hg19,3,172232698,T,C&fts=all	S75G	--	--	1																																		TNFSF10_uc003fie.2_Missense_Mutation_p.S75G	0,1	1		benign(0.071)	p.S75G	NM_003810	NP_003801		deleterious(0.02)	0,1	TNF10_HUMAN	TNFSF10	HGNC	P50591	TNF10_HUMAN	Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		Q6IBA9_HUMAN		2	318	-	Ovarian(172;0.00197)|Breast(254;0.158)		UPI0000001629	75			Extracellular (Potential).		SNV	TNFSF10,missense_variant,p.Ser75Gly,ENST00000241261,NM_003810.3;TNFSF10,missense_variant,p.Ser75Gly,ENST00000420541,NM_001190942.1;TNFSF10,missense_variant,p.Ser51Gly,ENST00000430881,;TNFSF10,non_coding_transcript_exon_variant,,ENST00000494851,;TNFSF10,non_coding_transcript_exon_variant,,ENST00000472804,;TNFSF10,downstream_gene_variant,,ENST00000466777,;	uc003fid.2	c.223A>G	346/1953	3	3			c.223A>G						3	SNP	c.(223-225)AGC>GGC	51	51			skin(4)|lung(1)	5	Broad	tumor necrosis factor (ligand) superfamily,			172232698		0.498	ENSG00000121858	16051	g.chr3:172232698T>C	activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			52			52	301.461948	KEEP	49	50	-1	68	73	49	50	-1	302.929726	68	73	0.413333	1	0	0	0	0	1	0	0	0	--	--		0	C			TNFSF10_uc003fie.2_Missense_Mutation_p.S75G	243	GBM-32-4208-TP	p.S75G	T	CAGCAGGGGCTGTTCATACTC	NM_003810	NP_003801	172232698	P50591	TNF10_HUMAN	0	Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		2	318	-	C	C	Ovarian(172;0.00197)|Breast(254;0.158)		Missense_Mutation	75			Extracellular (Potential).			
TNFSF10	0	broad.mit.edu	GRCh37	3	172241153	172241153	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-41-3392-01	TCGA-41-3392-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000241261.2:c.22G>T	p.Gly8Trp	p.G8W	ENST00000241261	NM_003810.3	8	Ggg/Tgg	0			1			A	G/W	uc003fid.2	protein_coding	YES	CCDS3219.1			22/846									skin(4)|lung(1)	5	c.(22-24)GGG>TGG			PIRSF_domain:PIRSF038013,hmmpanther:PTHR11471,hmmpanther:PTHR11471:SF27	tumor necrosis factor (ligand) superfamily,				ENSP00000241261		5-Jan									COSM3408438	5-Jan	.		ENST00000241261	Transcript			activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding	ENSG00000121858	g.chr3:172241153C>A	11925			MODERATE		2.095	medium	getma.org/?cm=msa&ty=f&p=TNF10_HUMAN&rb=1&re=151&var=G8W	NA	getma.org/?cm=var&var=hg19,3,172241153,C,A&fts=all	G8W	--	--	1																																		TNFSF10_uc003fie.2_Missense_Mutation_p.G8W|TNFSF10_uc010hwu.1_RNA	1	1		probably_damaging(0.935)	p.G8W	NM_003810	NP_003801		deleterious_low_confidence(0)	1	TNF10_HUMAN	TNFSF10	HGNC	P50591	TNF10_HUMAN	Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		Q6IBA9_HUMAN		1	117	-	Ovarian(172;0.00197)|Breast(254;0.158)		UPI0000001629	8			Cytoplasmic (Potential).		SNV	TNFSF10,missense_variant,p.Gly8Trp,ENST00000241261,NM_003810.3;TNFSF10,missense_variant,p.Gly8Trp,ENST00000420541,NM_001190942.1;TNFSF10,non_coding_transcript_exon_variant,,ENST00000466777,;TNFSF10,non_coding_transcript_exon_variant,,ENST00000494851,;TNFSF10,non_coding_transcript_exon_variant,,ENST00000472804,;TNFSF10,upstream_gene_variant,,ENST00000430881,;AC007919.18,downstream_gene_variant,,ENST00000429380,;	uc003fid.2	c.22G>T	145/1953	1	1			c.22G>T						3	SNP	c.(22-24)GGG>TGG	55	55			skin(4)|lung(1)	5	Broad	tumor necrosis factor (ligand) superfamily,			172241153		0.527	ENSG00000121858	16051	g.chr3:172241153C>A	activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			52			52	99.721045	KEEP	21	23	0.522727273	56	37	21	23	0.522727273	103.436339	56	37	0.31405	1	0	0	0	0	1	0	0	0	--	--		0	A			TNFSF10_uc003fie.2_Missense_Mutation_p.G8W|TNFSF10_uc010hwu.1_RNA	254	GBM-41-3392-TP	p.G8W	C	CTGGGTCCCCCCTGGACCTCC	NM_003810	NP_003801	172241153	P50591	TNF10_HUMAN	0	Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		1	117	-	A	A	Ovarian(172;0.00197)|Breast(254;0.158)		Missense_Mutation	8			Cytoplasmic (Potential).			
TNFSF11	8600	broad.mit.edu	GRCh37	13	43180986	43180986	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-0033-01	TCGA-02-0033-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000239849.6:c.886C>T	p.Pro296Ser	p.P296S	ENST00000239849		296	Ccc/Tcc	0			1			T	P/S	uc001uyu.2	protein_coding		CCDS9385.1			667/735										0	c.(886-888)CCC>TCC			Superfamily_domains:SSF49842,SMART_domains:SM00207,Gene3D:2.60.120.40,Pfam_domain:PF00229,hmmpanther:PTHR11471:SF3,hmmpanther:PTHR11471,PROSITE_profiles:PS50049	tumor necrosis factor ligand superfamily, member				ENSP00000381775		5-May									COSM2148964	5-May	.		ENST00000398795	Transcript	1		immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding	ENSG00000120659	g.chr13:43180986C>T	11926			MODERATE		0.99	low	getma.org/?cm=msa&ty=f&p=TNF11_HUMAN&rb=185&re=313&var=P296S	getma.org/pdb.php?prot=TNF11_HUMAN&from=185&to=313&var=P296S	getma.org/?cm=var&var=hg19,13,43180986,C,T&fts=all	P296S	--	--	1																																		TNFSF11_uc001uyt.2_Missense_Mutation_p.P223S	1			possibly_damaging(0.636)	p.P296S	NM_003701	NP_003692		tolerated(0.08)	1	TNF11_HUMAN	TNFSF11	HGNC	O14788	TNF11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	Q54A98_HUMAN		5	1035	+		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	UPI000000103A	296			Extracellular (Potential).		SNV	TNFSF11,missense_variant,p.Pro223Ser,ENST00000398795,NM_003701.3;TNFSF11,missense_variant,p.Pro296Ser,ENST00000239849,;TNFSF11,missense_variant,p.Pro223Ser,ENST00000405262,;TNFSF11,missense_variant,p.Pro223Ser,ENST00000358545,NM_033012.3;TNFSF11,missense_variant,p.Pro223Ser,ENST00000544862,;	uc001uyu.2	c.886C>T	1035/2198	2	2			c.886C>T						13	SNP	c.(886-888)CCC>TCC	21	21				0	Broad	tumor necrosis factor ligand superfamily, member			43180986		0.418	ENSG00000120659	16052	g.chr13:43180986C>T	immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding			113			113	178.47857	KEEP	29	39	-1	82	91	29	39	-1	186.919766	82	91	0.291667	1	0	0	0	0	1	0	0	0	--	--		0	T			TNFSF11_uc001uyt.2_Missense_Mutation_p.P223S	2	GBM-02-0033-TP	p.P296S	C	GGTCTCCAACCCCTCCTTACT	NM_003701	NP_003692	43180986	O14788	TNF11_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	5	1035	+	T	T		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	Missense_Mutation	296			Extracellular (Potential).			
TNFSF11	0	broad.mit.edu	GRCh37	13	43175077	43175077	+	synonymous_variant	Silent	SNP	T	T	A			TCGA-26-6174-01	TCGA-26-6174-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398795.2:c.273T>A	p.Pro91=	p.P91=	ENST00000398795	NM_003701.3	91	ccT/ccA	0			1			A	P	uc001uyu.2	protein_coding		CCDS9385.1			273/735										0	c.(490-492)CCT>CCA			Superfamily_domains:SSF49842,SMART_domains:SM00207,Gene3D:2.60.120.40,hmmpanther:PTHR11471:SF3,hmmpanther:PTHR11471	tumor necrosis factor ligand superfamily, member				ENSP00000381775		5-Apr									COSM3399374	5-Apr	.		ENST00000398795	Transcript	1		immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding	ENSG00000120659	g.chr13:43175077T>A	11926			LOW								--	--	1																																		TNFSF11_uc001uyt.2_Silent_p.P91P	1				p.P164P	NM_003701	NP_003692			1	TNF11_HUMAN	TNFSF11	HGNC	O14788	TNF11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	Q54A98_HUMAN		4	641	+		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	UPI000000103A	164			Extracellular (Potential).		SNV	TNFSF11,synonymous_variant,p.=,ENST00000398795,NM_003701.3;TNFSF11,synonymous_variant,p.=,ENST00000239849,;TNFSF11,synonymous_variant,p.=,ENST00000405262,;TNFSF11,synonymous_variant,p.=,ENST00000358545,NM_033012.3;TNFSF11,synonymous_variant,p.=,ENST00000544862,;	uc001uyu.2	c.492T>A	641/2198	2	2			c.492T>A						13	SNP	c.(490-492)CCT>CCA	45	45				0	Broad	tumor necrosis factor ligand superfamily, member			43175077		0.428	ENSG00000120659	16052	g.chr13:43175077T>A	immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding			113			113	29.535861	KEEP	9	13	-1	46	49	9	13	-1	39.653189	46	49	0.166667	1	0	0	0	0	0	0	1	0	--	--		0	A			TNFSF11_uc001uyt.2_Silent_p.P91P	188	GBM-26-6174-TP	p.P164P	T	AAGCTCAGCCTTTTGCTCATC	NM_003701	NP_003692	43175077	O14788	TNF11_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	4	641	+	A	A		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	Silent	164			Extracellular (Potential).			
TNFSF14	0	broad.mit.edu	GRCh37	19	6669978	6669978	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-12-0692-01	TCGA-12-0692-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000599359.1:c.103G>T	p.Val35Leu	p.V35L	ENST00000599359		35	Gtg/Ttg	0			1			A	V/L	uc002mfk.1	protein_coding	YES	CCDS12171.1			103/723									skin(1)	1	c.(103-105)GTG>TTG			hmmpanther:PTHR11471,hmmpanther:PTHR11471:SF22	tumor necrosis factor ligand superfamily, member				ENSP00000469049		5-Feb									COSM3404753	5-Feb	.		ENST00000599359	Transcript			cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	ENSG00000125735	g.chr19:6669978C>A	11930			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TNF14_HUMAN&rb=3&re=69&var=V35L	NA	getma.org/?cm=var&var=hg19,19,6669978,C,A&fts=all	V35L	--	--	1																																		TNFSF14_uc002mfj.1_Missense_Mutation_p.V35L	1	1		benign(0.001)	p.V35L	NM_003807	NP_003798		tolerated(0.54)	1	TNF14_HUMAN	TNFSF14	HGNC	O43557	TNF14_HUMAN					2	485	-			UPI000013CBC2	35			Cytoplasmic (Potential).		SNV	TNFSF14,missense_variant,p.Val35Leu,ENST00000326176,NM_003807.3,NM_172014.2;TNFSF14,missense_variant,p.Val35Leu,ENST00000245912,;TNFSF14,missense_variant,p.Val35Leu,ENST00000599359,;	uc002mfk.1	c.103G>T	485/1476	2	2			c.103G>T						19	SNP	c.(103-105)GTG>TTG	41	41			skin(1)	1	Broad	tumor necrosis factor ligand superfamily, member			6669978		0.632	ENSG00000125735	16057	g.chr19:6669978C>A	cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding							-27.906503	KEEP	2	8	0.8	93	139	2	8	0.8	18.050148	93	139	0.043689	1	0	0	0	0	1	0	0	0	--	--		0	A			TNFSF14_uc002mfj.1_Missense_Mutation_p.V35L	122	GBM-12-0692-TP	p.V35L	C	ACCCGGGCCACACTGCACGAC	NM_003807	NP_003798	6669978	O43557	TNF14_HUMAN	0			2	485	-	A	A			Missense_Mutation	35			Cytoplasmic (Potential).			
TNFSF14	0	broad.mit.edu	GRCh37	19	6665273	6665273	+	synonymous_variant	Silent	SNP	G	G	A	rs147375196		TCGA-28-2514-01	TCGA-28-2514-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000599359.1:c.387C>T	p.His129=	p.H129=	ENST00000599359		129	caC/caT	0	A:0		1			A	H	uc002mfk.1	protein_coding	YES	CCDS12171.1			387/723									skin(1)	1	c.(385-387)CAC>CAT			Gene3D:2.60.120.40,Pfam_domain:PF00229,PROSITE_profiles:PS50049,hmmpanther:PTHR11471,hmmpanther:PTHR11471:SF22,SMART_domains:SM00207,Superfamily_domains:SSF49842	tumor necrosis factor ligand superfamily, member			A:0.0001	ENSP00000469049		5-May									rs147375196,COSM3404751	5-May	.		ENST00000599359	Transcript			cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	ENSG00000125735	g.chr19:6665273G>A	11930			LOW								--	--	1																																		TNFSF14_uc002mfj.1_Silent_p.H93H	0,1	1			p.H129H	NM_003807	NP_003798			0,1	TNF14_HUMAN	TNFSF14	HGNC	O43557	TNF14_HUMAN					5	769	-			UPI000013CBC2	129			Extracellular (Potential).		SNV	TNFSF14,synonymous_variant,p.=,ENST00000326176,NM_003807.3,NM_172014.2;TNFSF14,synonymous_variant,p.=,ENST00000245912,;TNFSF14,synonymous_variant,p.=,ENST00000599359,;	uc002mfk.1	c.387C>T	769/1476	2	2			c.387C>T						19	SNP	c.(385-387)CAC>CAT	39	39			skin(1)	1	Broad	tumor necrosis factor ligand superfamily, member			6665273		0.647	ENSG00000125735	16057	g.chr19:6665273G>A	cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding							41.944734	KEEP	10	9	-1	23	26	10	9	-1	44.957468	23	26	0.269841	1	0	0	0	0	0	0	1	0	--	--		0	A			TNFSF14_uc002mfj.1_Silent_p.H93H	214	GBM-28-2514-TP	p.H129H	G	GGGCCCCATCGTGGTAGCTGA	NM_003807	NP_003798	6665273	O43557	TNF14_HUMAN	0			5	769	-	A	A			Silent	129			Extracellular (Potential).			
TNFSF14	8740		GRCh37	19	6669943	6669943	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000599359.1:c.138G>A	p.Leu46=	p.L46=	ENST00000599359		46	ctG/ctA	0																																																																																																																																																																																																																																												
TNFSF18	0	broad.mit.edu	GRCh37	1	173010533	173010533	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4929-01	TCGA-76-4929-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000404377.3:c.574C>T	p.Leu192=	p.L192=	ENST00000404377	NM_005092.3	192	Cta/Tta	0		A:0	1	A:0		A	L	uc001giu.2	protein_coding	YES	CCDS1305.2			574/600									central_nervous_system(1)	1	c.(574-576)CTA>TTA			Gene3D:2.60.120.40,Pfam_domain:PF00229,hmmpanther:PTHR15267,hmmpanther:PTHR15267:SF0,Superfamily_domains:SSF49842	tumor necrosis factor (ligand) superfamily,		A:0		ENSP00000385470	A:0	3-Mar	8.24E-06							7.40E-05	rs545086841,COSM3400003,COSM3400002	3-Mar	.		ENST00000404377	Transcript		A:0.0002	anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	ENSG00000120337	g.chr1:173010533G>A	11932			LOW								--	--	1																																			0,1,1	1			p.L192L	NM_005092	NP_005083	A:0.001		0,1,1	TNF18_HUMAN	TNFSF18	HGNC	Q9UNG2	TNF18_HUMAN					3	575	-			UPI000153D776	192			Extracellular (Potential).		SNV	TNFSF18,synonymous_variant,p.=,ENST00000404377,NM_005092.3;TNFSF18,synonymous_variant,p.=,ENST00000239468,;RP1-15D23.2,intron_variant,,ENST00000432694,;	uc001giu.2	c.574C>T	575/2008	1	1			c.574C>T						1	SNP	c.(574-576)CTA>TTA	63	63			central_nervous_system(1)	1	Broad	tumor necrosis factor (ligand) superfamily,			173010533		0.418	ENSG00000120337	16059	g.chr1:173010533G>A	anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding							172.476202	KEEP	29	26	-1	43	39	29	26	-1	173.3863	43	39	0.409449	1	0	0	0	0	0	0	1	0	--	--		0	A				269	GBM-76-4929-TP	p.L192L	G	GGATTTGCTAGTAAAATGATA	NM_005092	NP_005083	173010533	Q9UNG2	TNF18_HUMAN	0			3	575	-	A	A			Silent	192			Extracellular (Potential).			
TNFSF18	8995		GRCh37	1	173010834	173010834	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000404377.3:c.273G>A	p.Trp91Ter	p.W91*	ENST00000404377	NM_005092.3	91	tgG/tgA	0																																																																																																																																																																																																																																												
TNFSF4	0	broad.mit.edu	GRCh37	1	173155865	173155865	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0618-01	TCGA-12-0618-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281834.3:c.342C>T	p.Asn114=	p.N114=	ENST00000281834	NM_003326.3	114	aaC/aaT	0			1			A	N	uc001giw.2	protein_coding	YES	CCDS1306.1			342/552									central_nervous_system(1)	1	c.(340-342)AAC>AAT			Pfam_domain:PF00229,hmmpanther:PTHR17534,hmmpanther:PTHR17534:SF4,SMART_domains:SM00207,Superfamily_domains:SSF49842	tumor necrosis factor (ligand) superfamily,				ENSP00000281834		3-Mar									COSM3400006	3-Mar	.		ENST00000281834	Transcript	1		acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity	ENSG00000117586	g.chr1:173155865G>A	11934			LOW								--	--	1																																		TNFSF4_uc001giv.2_Silent_p.N64N	1	1			p.N114N	NM_003326	NP_003317			1	TNFL4_HUMAN	TNFSF4	HGNC	P23510	TNFL4_HUMAN					3	498	-			UPI00001370A5	114			Extracellular (Potential).		SNV	TNFSF4,synonymous_variant,p.=,ENST00000281834,NM_003326.3;TNFSF4,synonymous_variant,p.=,ENST00000367718,;TNFSF4,downstream_gene_variant,,ENST00000488053,;	uc001giw.2	c.342C>T	479/3470	2	2			c.342C>T						1	SNP	c.(340-342)AAC>AAT	47	47			central_nervous_system(1)	1	Broad	tumor necrosis factor (ligand) superfamily,			173155865		0.468	ENSG00000117586	16060	g.chr1:173155865G>A	acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity							-17.337662	KEEP	5	8	-1	86	102	5	8	-1	21.345033	86	102	0.058201	1	0	0	0	0	0	0	1	0	--	--		0	A			TNFSF4_uc001giv.2_Silent_p.N64N	119	GBM-12-0618-TP	p.N114N	G	GAAGGCTAATGTTGACTTCCT	NM_003326	NP_003317	173155865	P23510	TNFL4_HUMAN	0			3	498	-	A	A			Silent	114			Extracellular (Potential).			
TNFSF8	944	broad.mit.edu	GRCh37	9	117666360	117666360	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs145748228		TCGA-06-2559-01	TCGA-06-2559-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000223795.2:c.556G>A	p.Val186Ile	p.V186I	ENST00000223795	NM_001244.3	186	Gta/Ata	0	T:0		1			T	V/I	uc004bji.1	protein_coding	YES	CCDS6810.1			556/705									lung(3)|skin(2)|ovary(1)	6	c.(556-558)GTA>ATA			Gene3D:2.60.120.40,Pfam_domain:PF00229,PIRSF_domain:PIRSF019548,PROSITE_profiles:PS50049,hmmpanther:PTHR32163,hmmpanther:PTHR32163:SF1,SMART_domains:SM00207,Superfamily_domains:SSF49842	tumor necrosis factor (ligand) superfamily,			T:0.0001	ENSP00000223795		4-Apr	4.12E-05					7.49E-05			rs145748228,COSM1314395	4-Apr	.		ENST00000223795	Transcript			cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	ENSG00000106952	g.chr9:117666360C>T	11938			MODERATE		-0.46	neutral	getma.org/?cm=msa&ty=f&p=TNFL8_HUMAN&rb=113&re=230&var=V186I	NA	getma.org/?cm=var&var=hg19,9,117666360,C,T&fts=all	V186I	--	--	1																																			0,1	1		benign(0.002)	p.V186I	NM_001244	NP_001235		tolerated(1)	0,1	TNFL8_HUMAN	TNFSF8	HGNC	P32971	TNFL8_HUMAN			Q52M88_HUMAN		4	743	-			UPI0000048FDE	186			Extracellular (Potential).		SNV	TNFSF8,missense_variant,p.Val186Ile,ENST00000223795,NM_001244.3;TNFSF8,intron_variant,,ENST00000474301,;	uc004bji.1	c.556G>A	670/1906	1	1			c.556G>A						9	SNP	c.(556-558)GTA>ATA	2	2			lung(3)|skin(2)|ovary(1)	6	Broad	tumor necrosis factor (ligand) superfamily,			117666360		0.418	ENSG00000106952	16061	g.chr9:117666360C>T	cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding							11.775974	KEEP	8	14	-1	111	116	8	14	-1	49.130355	111	116	0.093333	1	0	0	0	0	1	0	0	0	--	--		0	T				83	GBM-06-2559-TP	p.V186I	C	TTCTGGTATACGTGTTTCGTT	NM_001244	NP_001235	117666360	P32971	TNFL8_HUMAN	0			4	743	-	T	T			Missense_Mutation	186			Extracellular (Potential).			
TNFSF9	0	broad.mit.edu	GRCh37	19	6535006	6535006	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01	TCGA-06-6695-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245817.3:c.694G>A	p.Ala232Thr	p.A232T	ENST00000245817	NM_003811.3	232	Gcc/Acc	0			1			A	A/T	uc002mfh.2	protein_coding	YES	CCDS12169.1			694/765									central_nervous_system(1)	1	c.(694-696)GCC>ACC			Gene3D:2.60.120.40,Pfam_domain:PF00229,PROSITE_profiles:PS50049,hmmpanther:PTHR15153,hmmpanther:PTHR15153:SF0,SMART_domains:SM00207,Superfamily_domains:SSF49842	tumor necrosis factor (ligand) superfamily,				ENSP00000245817		3-Mar	0.000124	0.000117		0.000119		0.000198		7.04E-05	rs746585700,COSM3404750	3-Mar	.		ENST00000245817	Transcript			apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	ENSG00000125657	g.chr19:6535006G>A	11939			MODERATE		0.83	low	getma.org/?cm=msa&ty=f&p=TNFL9_HUMAN&rb=107&re=240&var=A232T	getma.org/pdb.php?prot=TNFL9_HUMAN&from=107&to=240&var=A232T	getma.org/?cm=var&var=hg19,19,6535006,G,A&fts=all	A232T	--	--	1																																			0,1	1		benign(0.405)	p.A232T	NM_003811	NP_003802		deleterious(0.04)	0,1	TNFL9_HUMAN	TNFSF9	HGNC	P41273	TNFL9_HUMAN					3	732	+			UPI00001370B7	232			Extracellular (Potential).		SNV	TNFSF9,missense_variant,p.Ala232Thr,ENST00000245817,NM_003811.3;	uc002mfh.2	c.694G>A	732/1657	2	2			c.694G>A						19	SNP	c.(694-696)GCC>ACC	40	40			central_nervous_system(1)	1	Broad	tumor necrosis factor (ligand) superfamily,			6535006		0.662	ENSG00000125657	16062	g.chr19:6535006G>A	apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding							35.834267	KEEP	7	9	-1	16	15	7	9	-1	36.995414	16	15	0.325581	1	0	0	0	0	1	0	0	0	--	--		0	A				110	GBM-06-6695-TP	p.A232T	G	TACCCAGGGCGCCACAGTCTT	NM_003811	NP_003802	6535006	P41273	TNFL9_HUMAN	0			3	732	+	A	A			Missense_Mutation	232			Extracellular (Potential).			
TNFSF9	0	broad.mit.edu	GRCh37	19	6535064	6535064	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245817.3:c.752C>T	p.Pro251Leu	p.P251L	ENST00000245817	NM_003811.3	251	cCg/cTg	0	T:0	T:0	1	T:0		T	P/L	uc002mfh.2	protein_coding	YES	CCDS12169.1			752/765									central_nervous_system(1)	1	c.(751-753)CCG>CTG			hmmpanther:PTHR15153,hmmpanther:PTHR15153:SF0	tumor necrosis factor (ligand) superfamily,		T:0.005	T:0.0001	ENSP00000245817	T:0	3-Mar	0.00034			0.00465		1.75E-05		0.000197	rs184642529,COSM2727791	3-Mar	common_variant		ENST00000245817	Transcript		T:0.0010	apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	ENSG00000125657	g.chr19:6535064C>T	11939			MODERATE		0.205	neutral	getma.org/?cm=msa&ty=f&p=TNFL9_HUMAN&rb=211&re=254&var=P251L	getma.org/pdb.php?prot=TNFL9_HUMAN&from=241&to=254&var=P251L	getma.org/?cm=var&var=hg19,19,6535064,C,T&fts=all	P251L	--	--	1																																			0,1	1		benign(0.001)	p.P251L	NM_003811	NP_003802	T:0	tolerated_low_confidence(0.43)	0,1	TNFL9_HUMAN	TNFSF9	HGNC	P41273	TNFL9_HUMAN					3	790	+			UPI00001370B7	251			Extracellular (Potential).		SNV	TNFSF9,missense_variant,p.Pro251Leu,ENST00000245817,NM_003811.3;	uc002mfh.2	c.752C>T	790/1657	1	1			c.752C>T						19	SNP	c.(751-753)CCG>CTG	5	5			central_nervous_system(1)	1	Broad	tumor necrosis factor (ligand) superfamily,			6535064		0.637	ENSG00000125657	16062	g.chr19:6535064C>T	apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding							42.185792	KEEP	11	7	-1	13	18	11	7	-1	43.243537	13	18	0.340426	1	0	0	0	0	1	0	0	0	--	--		0	T				131	GBM-12-5301-TP	p.P251L	C	CTCCCTTCACCGAGGTCGGAA	NM_003811	NP_003802	6535064	P41273	TNFL9_HUMAN	0			3	790	+	T	T			Missense_Mutation	251			Extracellular (Potential).			
TNFSF9	0	broad.mit.edu	GRCh37	19	6535006	6535006	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6282-01	TCGA-76-6282-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245817.3:c.694G>A	p.Ala232Thr	p.A232T	ENST00000245817	NM_003811.3	232	Gcc/Acc	0			1			A	A/T	uc002mfh.2	protein_coding	YES	CCDS12169.1			694/765									central_nervous_system(1)	1	c.(694-696)GCC>ACC			Gene3D:2.60.120.40,Pfam_domain:PF00229,PROSITE_profiles:PS50049,hmmpanther:PTHR15153,hmmpanther:PTHR15153:SF0,SMART_domains:SM00207,Superfamily_domains:SSF49842	tumor necrosis factor (ligand) superfamily,				ENSP00000245817		3-Mar	0.000124	0.000117		0.000119		0.000198		7.04E-05	rs746585700,COSM3404750	3-Mar	.		ENST00000245817	Transcript			apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	ENSG00000125657	g.chr19:6535006G>A	11939			MODERATE		0.83	low	getma.org/?cm=msa&ty=f&p=TNFL9_HUMAN&rb=107&re=240&var=A232T	getma.org/pdb.php?prot=TNFL9_HUMAN&from=107&to=240&var=A232T	getma.org/?cm=var&var=hg19,19,6535006,G,A&fts=all	A232T	--	--	1																																			0,1	1		benign(0.405)	p.A232T	NM_003811	NP_003802		deleterious(0.04)	0,1	TNFL9_HUMAN	TNFSF9	HGNC	P41273	TNFL9_HUMAN					3	732	+			UPI00001370B7	232			Extracellular (Potential).		SNV	TNFSF9,missense_variant,p.Ala232Thr,ENST00000245817,NM_003811.3;	uc002mfh.2	c.694G>A	732/1657	2	2			c.694G>A						19	SNP	c.(694-696)GCC>ACC	40	40			central_nervous_system(1)	1	Broad	tumor necrosis factor (ligand) superfamily,			6535006		0.662	ENSG00000125657	16062	g.chr19:6535006G>A	apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding							35.001576	KEEP	6	6	-1	8	10	6	6	-1	35.187748	8	10	0.413793	1	0	0	0	0	1	0	0	0	--	--		0	A				278	GBM-76-6282-TP	p.A232T	G	TACCCAGGGCGCCACAGTCTT	NM_003811	NP_003802	6535006	P41273	TNFL9_HUMAN	0			3	732	+	A	A			Missense_Mutation	232			Extracellular (Potential).			
TNIK	0	broad.mit.edu	GRCh37	3	170800078	170800078	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-87-5896-01	TCGA-87-5896-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000436636.2:c.3275A>C	p.Asp1092Ala	p.D1092A	ENST00000436636	NM_015028.2	1092	gAt/gCt	0			1			G	D/A	uc003fhh.2	protein_coding	YES	CCDS46956.1			3275/4083									ovary(4)|large_intestine(1)	5	c.(3274-3276)GAT>GCT			PROSITE_profiles:PS50219,hmmpanther:PTHR24361:SF196,hmmpanther:PTHR24361,Pfam_domain:PF00780,SMART_domains:SM00036	TRAF2 and NCK interacting kinase isoform 1				ENSP00000399511		27/33									COSM3408427,COSM3408426	27/33	.		ENST00000436636	Transcript			actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	ENSG00000154310	g.chr3:170800078T>G	30765			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=TNIK_HUMAN&rb=1051&re=1331&var=D1092A	NA	getma.org/?cm=var&var=hg19,3,170800078,T,G&fts=all	D1092A	--	--	1																																		TNIK_uc003fhi.2_Missense_Mutation_p.D1037A|TNIK_uc003fhj.2_Missense_Mutation_p.D1063A|TNIK_uc003fhk.2_Missense_Mutation_p.D1084A|TNIK_uc003fhl.2_Missense_Mutation_p.D1008A|TNIK_uc003fhm.2_Missense_Mutation_p.D1029A|TNIK_uc003fhn.2_Missense_Mutation_p.D1055A|TNIK_uc003fho.2_Missense_Mutation_p.D1000A|TNIK_uc003fhg.2_Missense_Mutation_p.D270A|TNIK_uc003fhp.2_Missense_Mutation_p.D24A	1,1	1		probably_damaging(0.963)	p.D1092A	NM_015028	NP_055843		deleterious(0.02)	1,1	TNIK_HUMAN	TNIK	HGNC	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)				27	3620	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		UPI000003ABDF	1092			CNH.		SNV	TNIK,missense_variant,p.Asp1092Ala,ENST00000436636,NM_015028.2;TNIK,missense_variant,p.Asp1070Ala,ENST00000369326,NM_001161560.1,NM_001161566.1,NM_001161562.1,NM_001161561.1;TNIK,missense_variant,p.Asp1044Ala,ENST00000538048,NM_001161564.1,NM_001161563.1;TNIK,missense_variant,p.Asp1008Ala,ENST00000341852,NM_001161565.1;TNIK,missense_variant,p.Asp1084Ala,ENST00000284483,;TNIK,missense_variant,p.Asp1063Ala,ENST00000357327,;TNIK,missense_variant,p.Asp1055Ala,ENST00000470834,;TNIK,missense_variant,p.Asp1037Ala,ENST00000488470,;TNIK,missense_variant,p.Asp1029Ala,ENST00000460047,;TNIK,missense_variant,p.Asp1000Ala,ENST00000475336,;TNIK,non_coding_transcript_exon_variant,,ENST00000496492,;TNIK,non_coding_transcript_exon_variant,,ENST00000484051,;TNIK,upstream_gene_variant,,ENST00000487846,;	uc003fhh.2	c.3275A>C	3620/6970	3	3			c.3275A>C						3	SNP	c.(3274-3276)GAT>GCT	5	5			ovary(4)|large_intestine(1)	5	Broad	TRAF2 and NCK interacting kinase isoform 1			170800078		0.483	ENSG00000154310	16063	g.chr3:170800078T>G	actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			743			743	21.615536	KEEP	4	3	-1	7	8	4	3	-1	22.133385	7	8	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	G			TNIK_uc003fhi.2_Missense_Mutation_p.D1037A|TNIK_uc003fhj.2_Missense_Mutation_p.D1063A|TNIK_uc003fhk.2_Missense_Mutation_p.D1084A|TNIK_uc003fhl.2_Missense_Mutation_p.D1008A|TNIK_uc003fhm.2_Missense_Mutation_p.D1029A|TNIK_uc003fhn.2_Missense_Mutation_p.D1055A|TNIK_uc003fho.2_Missense_Mutation_p.D1000A|TNIK_uc003fhg.2_Missense_Mutation_p.D270A|TNIK_uc003fhp.2_Missense_Mutation_p.D24A	291	GBM-87-5896-TP	p.D1092A	T	CTCTAGCACATCCATCTGCTG	NM_015028	NP_055843	170800078	Q9UKE5	TNIK_HUMAN	0	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		27	3620	-	G	G	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		Missense_Mutation	1092			CNH.			
TNIK	23043		GRCh37	3	170819385	170819385	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000436636.2:c.2444G>A	p.Arg815Gln	p.R815Q	ENST00000436636	NM_015028.2	815	cGg/cAg	0																																																																																																																																																																																																																																												
TNIP1	10318	broad.mit.edu	GRCh37	5	150422129	150422131	+	inframe_deletion	In_Frame_Del	DEL	AGG	AGG	-			TCGA-06-0171-01	TCGA-06-0171-01	AGG	AGG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389378.2:c.1104_1106del	p.Leu369del	p.L369del	ENST00000389378	NM_001252385.1	368	ctCCTg/ctg	0			1			-	LL/L	uc003ltf.2	protein_coding		CCDS34280.1			1104-1106/1911									ovary(1)|central_nervous_system(1)	2	c.(1102-1107)CTCCTG>CTG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31882,hmmpanther:PTHR31882:SF3	TNFAIP3 interacting protein 1				ENSP00000317891		18-Nov									COSM2150325	18-Nov	.		ENST00000315050	Transcript			defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding	ENSG00000145901	g.chr5:150422129_150422131delAGG	16903			MODERATE								--	--	1																																		TNIP1_uc010jhl.2_RNA|TNIP1_uc010jhm.2_In_Frame_Del_p.368_369LL>L|TNIP1_uc010jhn.2_In_Frame_Del_p.368_369LL>L|TNIP1_uc011dco.1_In_Frame_Del_p.368_369LL>L|TNIP1_uc003lth.2_RNA|TNIP1_uc003lti.2_In_Frame_Del_p.368_369LL>L|TNIP1_uc003ltg.2_In_Frame_Del_p.315_316LL>L|TNIP1_uc003ltj.2_In_Frame_Del_p.368_369LL>L|TNIP1_uc010jho.1_RNA|TNIP1_uc010jhq.1_In_Frame_Del_p.315_316LL>L|TNIP1_uc010jhp.1_In_Frame_Del_p.315_316LL>L|TNIP1_uc010jhr.1_In_Frame_Del_p.368_369LL>L|TNIP1_uc003ltk.2_In_Frame_Del_p.368_369LL>L	1				p.368_369LL>L	NM_006058	NP_006049			1	TNIP1_HUMAN	TNIP1	HGNC	Q15025	TNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		E7EWG2_HUMAN,E7EW68_HUMAN,E7EW15_HUMAN,B7Z5B0_HUMAN,A4F1X2_HUMAN,A4F1W8_HUMAN		11	1693_1695	-		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	UPI000000DCDC	368_369			Potential.|Interacts with Nef.		deletion	TNIP1,inframe_deletion,p.Leu369del,ENST00000389378,NM_001252385.1,NM_001258454.1,NM_006058.4,NM_001252393.1;TNIP1,inframe_deletion,p.Leu369del,ENST00000315050,NM_001252391.1;TNIP1,inframe_deletion,p.Leu369del,ENST00000523338,NM_001252392.1;TNIP1,inframe_deletion,p.Leu316del,ENST00000520931,NM_001252386.1;TNIP1,inframe_deletion,p.Leu369del,ENST00000521591,;TNIP1,inframe_deletion,p.Leu369del,ENST00000522226,NM_001252390.1;TNIP1,inframe_deletion,p.Leu369del,ENST00000518977,;TNIP1,inframe_deletion,p.Leu369del,ENST00000523200,NM_001258455.1;TNIP1,inframe_deletion,p.Leu369del,ENST00000524280,NM_001258456.1;TNIP1,downstream_gene_variant,,ENST00000522100,;TNIP1,upstream_gene_variant,,ENST00000517504,;TNIP1,intron_variant,,ENST00000521423,;TNIP1,inframe_deletion,p.Leu316del,ENST00000519339,;TNIP1,downstream_gene_variant,,ENST00000521782,;	uc003ltf.2	c.1104_1106delCCT	1214-1216/2785	5	5			c.1104_1106delCCT						5	DEL	c.(1102-1107)CTCCTG>CTG	4	4			ovary(1)|central_nervous_system(1)	2	Broad	TNFAIP3 interacting protein 1			150422131		0.542	ENSG00000145901	16064	g.chr5:150422129_150422131delAGG	defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding																				0.21	1	1	0	1	0	0	0	0	0	--	--		0	-			TNIP1_uc010jhl.2_RNA|TNIP1_uc010jhm.2_In_Frame_Del_p.368_369LL>L|TNIP1_uc010jhn.2_In_Frame_Del_p.368_369LL>L|TNIP1_uc011dco.1_In_Frame_Del_p.368_369LL>L|TNIP1_uc003lth.2_RNA|TNIP1_uc003lti.2_In_Frame_Del_p.368_369LL>L|TNIP1_uc003ltg.2_In_Frame_Del_p.315_316LL>L|TNIP1_uc003ltj.2_In_Frame_Del_p.368_369LL>L|TNIP1_uc010jho.1_RNA|TNIP1_uc010jhq.1_In_Frame_Del_p.315_316LL>L|TNIP1_uc010jhp.1_In_Frame_Del_p.315_316LL>L|TNIP1_uc010jhr.1_In_Frame_Del_p.368_369LL>L|TNIP1_uc003ltk.2_In_Frame_Del_p.368_369LL>L	35	GBM-06-0171-TP	p.368_369LL>L	AGG	GGACTTGGCCAGGAGGAGCTTGC	NM_006058	NP_006049	150422129	Q15025	TNIP1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	1693_1695	-	-	-		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	In_Frame_Del	368_369			Potential.|Interacts with Nef.			
TNIP3	79931	broad.mit.edu	GRCh37	4	122075742	122075742	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-2563-01	TCGA-06-2563-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000509841.1:c.687G>C	p.Lys229Asn	p.K229N	ENST00000509841	NM_001244764.1	229	aaG/aaC	0			1			G	K/N	uc010ing.2	protein_coding		CCDS3718.1			456/978									ovary(1)	1	c.(454-456)AAG>AAC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31882,hmmpanther:PTHR31882:SF2	TNFAIP3 interacting protein 3				ENSP00000057513		11-May									COSM2152862	11-May	.		ENST00000057513	Transcript						ENSG00000050730	g.chr4:122075742C>G	19315			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=TNIP3_HUMAN&rb=1&re=314&var=K152N	NA	getma.org/?cm=var&var=hg19,4,122075742,C,G&fts=all	K152N	--	--	1																																		TNIP3_uc010inh.2_Missense_Mutation_p.K152N|TNIP3_uc011cgj.1_Missense_Mutation_p.K210N|TNIP3_uc010ini.2_Missense_Mutation_p.K152N	1			probably_damaging(0.962)	p.K152N	NM_024873	NP_079149		deleterious(0.01)	1	TNIP3_HUMAN	TNIP3	HGNC	Q96KP6	TNIP3_HUMAN					5	652	-			UPI000013C569	152			Potential.		SNV	TNIP3,missense_variant,p.Lys152Asn,ENST00000454328,;TNIP3,missense_variant,p.Lys152Asn,ENST00000057513,NM_024873.5;TNIP3,missense_variant,p.Lys222Asn,ENST00000507879,NM_001128843.2;TNIP3,missense_variant,p.Lys229Asn,ENST00000509841,NM_001244764.1;TNIP3,upstream_gene_variant,,ENST00000511909,;TNIP3,non_coding_transcript_exon_variant,,ENST00000506753,;TNIP3,non_coding_transcript_exon_variant,,ENST00000515605,;	uc010ing.2	c.456G>C	671/2416	3	3			c.456G>C						4	SNP	c.(454-456)AAG>AAC	63	63			ovary(1)	1	Broad	TNFAIP3 interacting protein 3			122075742		0.343	ENSG00000050730	16066	g.chr4:122075742C>G										270.899646	KEEP	43	46	-1	67	51	43	46	-1	271.535798	67	51	0.436464	1	0	0	0	0	1	0	0	0	--	--		0	G			TNIP3_uc010inh.2_Missense_Mutation_p.K152N|TNIP3_uc011cgj.1_Missense_Mutation_p.K210N|TNIP3_uc010ini.2_Missense_Mutation_p.K152N	86	GBM-06-2563-TP	p.K152N	C	CGTAATGTTCCTTTTCCTTGT	NM_024873	NP_079149	122075742	Q96KP6	TNIP3_HUMAN	0			5	652	-	G	G			Missense_Mutation	152			Potential.			
TNIP3	0	broad.mit.edu	GRCh37	4	122085228	122085228	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs144762502	byFrequency	TCGA-28-5211-01	TCGA-28-5211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000057513.3:c.53C>T	p.Thr18Met	p.T18M	ENST00000057513	NM_024873.5	18	aCg/aTg	0	A:0.0009	A:0.0015	1	A:0		A	T/M	uc010ing.2	protein_coding		CCDS3718.1			53/978									ovary(1)	1	c.(52-54)ACG>ATG			hmmpanther:PTHR31882,hmmpanther:PTHR31882:SF2	TNFAIP3 interacting protein 3		A:0	A:0.0001	ENSP00000057513	A:0	11-Jan	0.000124	0.00125				1.50E-05		6.06E-05	rs144762502,COSM241967	11-Jan	common_variant		ENST00000057513	Transcript		A:0.0004				ENSG00000050730	g.chr4:122085228G>A	19315			MODERATE		0.665	neutral	getma.org/?cm=msa&ty=f&p=TNIP3_HUMAN&rb=1&re=314&var=T18M	NA	getma.org/?cm=var&var=hg19,4,122085228,G,A&fts=all	T18M	--	--	1																																		TNIP3_uc010inh.2_Missense_Mutation_p.T18M|TNIP3_uc011cgj.1_Missense_Mutation_p.T76M|TNIP3_uc010ini.2_Missense_Mutation_p.T18M	0,1			benign(0.071)	p.T18M	NM_024873	NP_079149	A:0	tolerated(0.1)	0,1	TNIP3_HUMAN	TNIP3	HGNC	Q96KP6	TNIP3_HUMAN					1	249	-			UPI000013C569	18					SNV	TNIP3,missense_variant,p.Thr18Met,ENST00000454328,;TNIP3,missense_variant,p.Thr18Met,ENST00000057513,NM_024873.5;TNIP3,missense_variant,p.Thr88Met,ENST00000507879,NM_001128843.2;TNIP3,missense_variant,p.Thr95Met,ENST00000509841,NM_001244764.1;TNIP3,non_coding_transcript_exon_variant,,ENST00000506753,;	uc010ing.2	c.53C>T	268/2416	2	2			c.53C>T						4	SNP	c.(52-54)ACG>ATG	35	35			ovary(1)	1	Broad	TNFAIP3 interacting protein 3			122085228		0.398	ENSG00000050730	16066	g.chr4:122085228G>A										0.521996	KEEP	7	5	-1	41	43	7	5	-1	12.167605	41	43	0.113924	1	0	0	0	0	1	0	0	0	--	--		0	A			TNIP3_uc010inh.2_Missense_Mutation_p.T18M|TNIP3_uc011cgj.1_Missense_Mutation_p.T76M|TNIP3_uc010ini.2_Missense_Mutation_p.T18M	219	GBM-28-5211-TP	p.T18M	G	TTTATGCTCCGTAGAACTTTC	NM_024873	NP_079149	122085228	Q96KP6	TNIP3_HUMAN	0			1	249	-	A	A			Missense_Mutation	18						
TNK2	10188	broad.mit.edu	GRCh37	3	195599202	195599203	+	frameshift_variant	Frame_Shift_Del	DEL	CT	CT	-			TCGA-06-2565-01	TCGA-06-2565-01	CT	CT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381916.2:c.1584_1585del	p.Gly529AlafsTer5	p.G529Afs*5	ENST00000381916	NM_001010938.1	528	acAGgg/acgg	0			1			-	TG/TX	uc003fvu.1	protein_coding		CCDS33928.1			1395-1396/3117									ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	c.(1393-1398)ACAGGGfs			Gene3D:1cf4B00,Pfam_domain:PF09027,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF66	tyrosine kinase, non-receptor, 2 isoform 1	Adenosine triphosphate(DB00171)			ENSP00000329425		15-Oct									COSM2153009,COSM2153008,COSM2153007	15-Oct	.		ENST00000333602	Transcript	1		positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	ENSG00000061938	g.chr3:195599202_195599203delCT	19297			HIGH								--	--	1																																		TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_5'UTR|TNK2_uc003fvs.1_Frame_Shift_Del_p.T497fs|TNK2_uc003fvt.1_Frame_Shift_Del_p.T528fs|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_Frame_Shift_Del_p.T295fs	1,1,1				p.T465fs	NM_005781	NP_005772			1,1,1	ACK1_HUMAN	TNK2	HGNC	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	C9JDG3_HUMAN		10	1938_1939	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	UPI000021D19E	465_466	Missing (in Ref. 4; AAH08884).		CRIB.		deletion	TNK2,frameshift_variant,p.Gly466AlafsTer5,ENST00000333602,NM_005781.4;TNK2,frameshift_variant,p.Gly466AlafsTer5,ENST00000392400,;TNK2,frameshift_variant,p.Gly498AlafsTer5,ENST00000428187,;TNK2,frameshift_variant,p.Gly529AlafsTer5,ENST00000381916,NM_001010938.1;TNK2,frameshift_variant,p.Gly18AlafsTer5,ENST00000416152,;TNK2,frameshift_variant,p.Gly466AlafsTer5,ENST00000316664,;TNK2,frameshift_variant,p.Gly76AlafsTer5,ENST00000424563,;TNK2,frameshift_variant,p.Gly111AlafsTer5,ENST00000411741,;TNK2,non_coding_transcript_exon_variant,,ENST00000478623,;TNK2,non_coding_transcript_exon_variant,,ENST00000486523,;TNK2,upstream_gene_variant,,ENST00000495247,;TNK2,frameshift_variant,p.Gly466AlafsTer5,ENST00000439230,;TNK2,non_coding_transcript_exon_variant,,ENST00000481865,;TNK2,non_coding_transcript_exon_variant,,ENST00000464041,;TNK2,non_coding_transcript_exon_variant,,ENST00000489628,;TNK2,non_coding_transcript_exon_variant,,ENST00000478715,;TNK2,non_coding_transcript_exon_variant,,ENST00000468680,;TNK2,upstream_gene_variant,,ENST00000420716,;	uc003fvu.1	c.1395_1396delAG	2013-2014/4552	5	5			c.1395_1396delAG						3	DEL	c.(1393-1398)ACAGGGfs	47	47			ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	Broad	tyrosine kinase, non-receptor, 2 isoform 1		Adenosine triphosphate(DB00171)	195599203		0.673	ENSG00000061938	16068	g.chr3:195599202_195599203delCT	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			288			288														0.69	1	1	0	1	0	0	0	0	0	--	--		0	-			TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_5'UTR|TNK2_uc003fvs.1_Frame_Shift_Del_p.T497fs|TNK2_uc003fvt.1_Frame_Shift_Del_p.T528fs|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_Frame_Shift_Del_p.T295fs	88	GBM-06-2565-TP	p.T465fs	CT	TCGCCATGCCCTGTGTGGATGA	NM_005781	NP_005772	195599202	Q07912	ACK1_HUMAN	0	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	10	1938_1939	-	-	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Frame_Shift_Del	465_466	Missing (in Ref. 4; AAH08884).		CRIB.			
TNK2	0	broad.mit.edu	GRCh37	3	195595228	195595229	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-12-0821-01	TCGA-12-0821-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333602.6:c.1895dupC	p.Pro633AlafsTer4	p.P633Afs*4	ENST00000333602	NM_005781.4	632	ccg/ccCg	0			1			G	P/PX	uc003fvu.1	protein_coding		CCDS33928.1			1895-1896/3117									ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	c.(1894-1896)CCGfs			hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF66	tyrosine kinase, non-receptor, 2 isoform 1	Adenosine triphosphate(DB00171)			ENSP00000329425		15-Dec									rs754299066	15-Dec	.		ENST00000333602	Transcript	1		positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	ENSG00000061938	g.chr3:195595228_195595229insG	19297			HIGH								--	--	1																																		TNK2_uc003fvq.1_Frame_Shift_Ins_p.P39fs|TNK2_uc003fvr.1_Frame_Shift_Ins_p.P157fs|TNK2_uc003fvs.1_Frame_Shift_Ins_p.P664fs|TNK2_uc003fvt.1_Frame_Shift_Ins_p.P710fs|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_3'UTR					p.P632fs	NM_005781	NP_005772				ACK1_HUMAN	TNK2	HGNC	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	C9JDG3_HUMAN		12	2438_2439	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	UPI000021D19E	632	Missing (in Ref. 4; AAH08884).		Required for interaction with SRC.|Required for interaction with NEDD4 (By similarity).|Pro-rich.		insertion	TNK2,frameshift_variant,p.Pro633AlafsTer4,ENST00000333602,NM_005781.4;TNK2,frameshift_variant,p.Pro633AlafsTer4,ENST00000392400,;TNK2,frameshift_variant,p.Pro665AlafsTer4,ENST00000428187,;TNK2,frameshift_variant,p.Pro711AlafsTer4,ENST00000381916,NM_001010938.1;TNK2,frameshift_variant,p.Pro200AlafsTer4,ENST00000416152,;TNK2,frameshift_variant,p.Pro243ProfsTer?,ENST00000424563,;TNK2,downstream_gene_variant,,ENST00000316664,;TNK2,downstream_gene_variant,,ENST00000411741,;TNK2,intron_variant,,ENST00000495247,;TNK2,downstream_gene_variant,,ENST00000478623,;TNK2,downstream_gene_variant,,ENST00000486523,;TNK2,3_prime_UTR_variant,,ENST00000439230,;TNK2,non_coding_transcript_exon_variant,,ENST00000481865,;TNK2,non_coding_transcript_exon_variant,,ENST00000464041,;TNK2,non_coding_transcript_exon_variant,,ENST00000420716,;TNK2,downstream_gene_variant,,ENST00000489628,;TNK2,downstream_gene_variant,,ENST00000478715,;TNK2,downstream_gene_variant,,ENST00000468680,;	uc003fvu.1	c.1895_1896insC	2513-2514/4552	5	5			c.1895_1896insC						3	INS	c.(1894-1896)CCGfs	13	13			ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	Broad	tyrosine kinase, non-receptor, 2 isoform 1		Adenosine triphosphate(DB00171)	195595229		0.728	ENSG00000061938	16068	g.chr3:195595228_195595229insG	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding		p.P664P(LS180-Tumor)	288		p.P664P(LS180-Tumor)	288														0.04	1	0	0	1	1	0	0	0	0	--	--		0	G			TNK2_uc003fvq.1_Frame_Shift_Ins_p.P39fs|TNK2_uc003fvr.1_Frame_Shift_Ins_p.P157fs|TNK2_uc003fvs.1_Frame_Shift_Ins_p.P664fs|TNK2_uc003fvt.1_Frame_Shift_Ins_p.P710fs|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_3'UTR	123	GBM-12-0821-TP	p.P632fs	-	CATAGGCGGGCGGGGGGGGCAG	NM_005781	NP_005772	195595228	Q07912	ACK1_HUMAN	0	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	12	2438_2439	-	G	G	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Frame_Shift_Ins	632	Missing (in Ref. 4; AAH08884).		Required for interaction with SRC.|Required for interaction with NEDD4 (By similarity).|Pro-rich.			
TNK2	0	broad.mit.edu	GRCh37	3	195611779	195611779	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333602.6:c.360C>G	p.Leu120=	p.L120=	ENST00000333602	NM_005781.4	120	ctC/ctG	0			1			C	L	uc003fvu.1	protein_coding		CCDS33928.1			360/3117									ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	c.(358-360)CTC>CTG			hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF66,Superfamily_domains:SSF56112	tyrosine kinase, non-receptor, 2 isoform 1	Adenosine triphosphate(DB00171)			ENSP00000329425		15-Apr									COSM3408544,COSM3408545,COSM3408543,COSM3408542	15-Apr	.		ENST00000333602	Transcript	1		positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	ENSG00000061938	g.chr3:195611779G>C	19297			LOW								--	--	1																																		TNK2_uc003fvs.1_Silent_p.L152L|TNK2_uc003fvt.1_Silent_p.L183L|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_5'UTR|TNK2_uc010hzx.1_Silent_p.L134L	1,1,1,1				p.L120L	NM_005781	NP_005772			1,1,1,1	ACK1_HUMAN	TNK2	HGNC	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	C9JDG3_HUMAN		4	903	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	UPI000021D19E	120					SNV	TNK2,synonymous_variant,p.=,ENST00000333602,NM_005781.4;TNK2,synonymous_variant,p.=,ENST00000392400,;TNK2,synonymous_variant,p.=,ENST00000428187,;TNK2,synonymous_variant,p.=,ENST00000381916,NM_001010938.1;TNK2,synonymous_variant,p.=,ENST00000316664,;TNK2,intron_variant,,ENST00000438207,;TNK2,downstream_gene_variant,,ENST00000433111,;TNK2,downstream_gene_variant,,ENST00000427576,;TNK2,non_coding_transcript_exon_variant,,ENST00000468819,;TNK2,intron_variant,,ENST00000486523,;TNK2,synonymous_variant,p.=,ENST00000439230,;TNK2,synonymous_variant,p.=,ENST00000430929,;TNK2,3_prime_UTR_variant,,ENST00000447060,;TNK2,non_coding_transcript_exon_variant,,ENST00000481865,;TNK2,non_coding_transcript_exon_variant,,ENST00000464041,;	uc003fvu.1	c.360C>G	978/4552	4	4			c.360C>G						3	SNP	c.(358-360)CTC>CTG	45	45			ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	Broad	tyrosine kinase, non-receptor, 2 isoform 1		Adenosine triphosphate(DB00171)	195611779		0.672	ENSG00000061938	16068	g.chr3:195611779G>C	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			288			288	-2.687762	KEEP	2	0	-1	30	35	2	0	-1	6.462567	30	35	0.047619	1	0	0	0	0	0	0	1	0	--	--		0	C			TNK2_uc003fvs.1_Silent_p.L152L|TNK2_uc003fvt.1_Silent_p.L183L|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_5'UTR|TNK2_uc010hzx.1_Silent_p.L134L	160	GBM-19-1790-TP	p.L120L	G	TCTCCCCAATGAGGCAGGTGA	NM_005781	NP_005772	195611779	Q07912	ACK1_HUMAN	0	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	4	903	-	C	C	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Silent	120						
TNK2	0	broad.mit.edu	GRCh37	3	195597005	195597006	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-32-1970-01	TCGA-32-1970-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333602.6:c.1522dupC	p.Gln508ProfsTer12	p.Q508Pfs*12	ENST00000333602	NM_005781.4	508	cag/cCag	0			1			G	Q/PX	uc003fvu.1	protein_coding		CCDS33928.1			1522-1523/3117									ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	c.(1522-1524)CAGfs			Pfam_domain:PF09027,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF66	tyrosine kinase, non-receptor, 2 isoform 1	Adenosine triphosphate(DB00171)			ENSP00000329425		15-Nov									rs754147115	15-Nov	.		ENST00000333602	Transcript	1		positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	ENSG00000061938	g.chr3:195597005_195597006insG	19297			HIGH								--	--	1																																		TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_Frame_Shift_Ins_p.Q18fs|TNK2_uc003fvs.1_Frame_Shift_Ins_p.Q540fs|TNK2_uc003fvt.1_Frame_Shift_Ins_p.Q571fs|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_Frame_Shift_Ins_p.Q338fs					p.Q508fs	NM_005781	NP_005772				ACK1_HUMAN	TNK2	HGNC	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	C9JDG3_HUMAN		11	2065_2066	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	UPI000021D19E	508	Missing (in Ref. 4; AAH08884).				insertion	TNK2,frameshift_variant,p.Gln508ProfsTer12,ENST00000333602,NM_005781.4;TNK2,frameshift_variant,p.Gln508ProfsTer12,ENST00000392400,;TNK2,frameshift_variant,p.Gln540ProfsTer12,ENST00000428187,;TNK2,frameshift_variant,p.Gln571ProfsTer27,ENST00000381916,NM_001010938.1;TNK2,frameshift_variant,p.Gln60ProfsTer27,ENST00000416152,;TNK2,frameshift_variant,p.Gln118ProfsTer12,ENST00000424563,;TNK2,frameshift_variant,p.Gln153ProfsTer12,ENST00000411741,;TNK2,downstream_gene_variant,,ENST00000316664,;TNK2,non_coding_transcript_exon_variant,,ENST00000478623,;TNK2,non_coding_transcript_exon_variant,,ENST00000495247,;TNK2,downstream_gene_variant,,ENST00000486523,;TNK2,3_prime_UTR_variant,,ENST00000439230,;TNK2,non_coding_transcript_exon_variant,,ENST00000481865,;TNK2,non_coding_transcript_exon_variant,,ENST00000464041,;TNK2,non_coding_transcript_exon_variant,,ENST00000489628,;TNK2,non_coding_transcript_exon_variant,,ENST00000478715,;TNK2,upstream_gene_variant,,ENST00000420716,;TNK2,downstream_gene_variant,,ENST00000468680,;	uc003fvu.1	c.1522_1523insC	2140-2141/4552	5	5			c.1522_1523insC						3	INS	c.(1522-1524)CAGfs	45	45			ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	Broad	tyrosine kinase, non-receptor, 2 isoform 1		Adenosine triphosphate(DB00171)	195597006		0.614	ENSG00000061938	16068	g.chr3:195597005_195597006insG	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			288			288														0.47	1	0	0	1	1	0	0	0	0	--	--		0	G			TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_Frame_Shift_Ins_p.Q18fs|TNK2_uc003fvs.1_Frame_Shift_Ins_p.Q540fs|TNK2_uc003fvt.1_Frame_Shift_Ins_p.Q571fs|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_Frame_Shift_Ins_p.Q338fs	228	GBM-32-1970-TP	p.Q508fs	-	TCCTAGATGCTGGGGGGGCCGG	NM_005781	NP_005772	195597005	Q07912	ACK1_HUMAN	0	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	11	2065_2066	-	G	G	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Frame_Shift_Ins	508	Missing (in Ref. 4; AAH08884).					
TNKS	0	broad.mit.edu	GRCh37	8	9565981	9565981	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-1836-01	TCGA-27-1836-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310430.6:c.1557G>A	p.Pro519=	p.P519=	ENST00000310430	NM_003747.2	519	ccG/ccA	0	T:0.0002	T:0	1	T:0.0014		A	P	uc003wss.2	protein_coding	YES	CCDS5974.1			1557/3984									lung(4)|ovary(2)|kidney(1)	7	c.(1555-1557)CCG>CCA			PROSITE_profiles:PS50297,hmmpanther:PTHR24180:SF3,hmmpanther:PTHR24180,Gene3D:1.25.40.20,Superfamily_domains:SSF48403	tankyrase, TRF1-interacting ankyrin-related		T:0	T:0	ENSP00000311579	T:0	27-Sep	2.47E-05			0.000231		1.50E-05			rs370231803,COSM3413172,COSM3413171	27-Sep	.		ENST00000310430	Transcript		T:0.0002	mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	ENSG00000173273	g.chr8:9565981G>A	11941			LOW								--	--	1																																		TNKS_uc011kwv.1_Silent_p.P519P|TNKS_uc011kww.1_Silent_p.P282P	0,1,1	1			p.P519P	NM_003747	NP_003738	T:0		0,1,1	TNKS1_HUMAN	TNKS	HGNC	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	Q59FX0_HUMAN,E7EQ52_HUMAN		9	1562	+			UPI000013F00D	519					SNV	TNKS,synonymous_variant,p.=,ENST00000310430,NM_003747.2;TNKS,synonymous_variant,p.=,ENST00000518281,;TNKS,synonymous_variant,p.=,ENST00000520408,;TNKS,downstream_gene_variant,,ENST00000518027,;TNKS,downstream_gene_variant,,ENST00000519392,;TNKS,downstream_gene_variant,,ENST00000517989,;	uc003wss.2	c.1557G>A	1583/9620	2	2			c.1557G>A						8	SNP	c.(1555-1557)CCG>CCA	44	44			lung(4)|ovary(2)|kidney(1)	7	Broad	tankyrase, TRF1-interacting ankyrin-related			9565981		0.328	ENSG00000173273	16069	g.chr8:9565981G>A	mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding							-69.813054	KEEP	3	5	-1	176	174	3	5	-1	9.753625	176	174	0.019544	1	0	0	0	0	0	0	1	0	--	--		0	A			TNKS_uc011kwv.1_Silent_p.P519P|TNKS_uc011kww.1_Silent_p.P282P	195	GBM-27-1836-TP	p.P519P	G	TCAAACAACCGCAGTCTCATG	NM_003747	NP_003738	9565981	O95271	TNKS1_HUMAN	0		COAD - Colon adenocarcinoma(149;0.0467)	9	1562	+	A	A			Silent	519						
TNKS	0	broad.mit.edu	GRCh37	8	9620738	9620738	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-5207-01	TCGA-28-5207-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310430.6:c.3356A>G	p.Gln1119Arg	p.Q1119R	ENST00000310430	NM_003747.2	1119	cAg/cGg	0			1			G	Q/R	uc003wss.2	protein_coding	YES	CCDS5974.1			3356/3984									lung(4)|ovary(2)|kidney(1)	7	c.(3355-3357)CAG>CGG			PROSITE_profiles:PS51059,hmmpanther:PTHR24180:SF3,hmmpanther:PTHR24180,Pfam_domain:PF00644,Gene3D:3.90.228.10,Superfamily_domains:SSF56399	tankyrase, TRF1-interacting ankyrin-related				ENSP00000311579		22/27	8.24E-06					1.53E-05			rs746655363,COSM3413180,COSM3413179	22/27	.		ENST00000310430	Transcript			mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	ENSG00000173273	g.chr8:9620738A>G	11941			MODERATE		0.74	neutral	getma.org/?cm=msa&ty=f&p=TNKS1_HUMAN&rb=1105&re=1286&var=Q1119R	getma.org/pdb.php?prot=TNKS1_HUMAN&from=1105&to=1286&var=Q1119R	getma.org/?cm=var&var=hg19,8,9620738,A,G&fts=all	Q1119R	--	--	1																																		TNKS_uc011kww.1_Missense_Mutation_p.Q882R	0,1,1	1		probably_damaging(0.961)	p.Q1119R	NM_003747	NP_003738		tolerated(0.85)	0,1,1	TNKS1_HUMAN	TNKS	HGNC	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	Q59FX0_HUMAN,E7EQ52_HUMAN		22	3361	+			UPI000013F00D	1119			PARP catalytic.		SNV	TNKS,missense_variant,p.Gln1119Arg,ENST00000310430,NM_003747.2;TNKS,missense_variant,p.Gln882Arg,ENST00000518281,;	uc003wss.2	c.3356A>G	3382/9620	3	3			c.3356A>G						8	SNP	c.(3355-3357)CAG>CGG	61	61			lung(4)|ovary(2)|kidney(1)	7	Broad	tankyrase, TRF1-interacting ankyrin-related			9620738		0.358	ENSG00000173273	16069	g.chr8:9620738A>G	mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding							-10.345923	KEEP	0	3	-1	34	50	0	3	-1	7.610272	34	50	0.038462	1	0	0	0	0	1	0	0	0	--	--		0	G			TNKS_uc011kww.1_Missense_Mutation_p.Q882R	216	GBM-28-5207-TP	p.Q1119R	A	AAAGAATATCAGTCAGTGGAA	NM_003747	NP_003738	9620738	O95271	TNKS1_HUMAN	0		COAD - Colon adenocarcinoma(149;0.0467)	22	3361	+	G	G			Missense_Mutation	1119			PARP catalytic.			
TNKS2	0	broad.mit.edu	GRCh37	10	93619322	93619322	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371627.4:c.3198C>A	p.Ser1066=	p.S1066=	ENST00000371627	NM_025235.3	1066	tcC/tcA	0			1			A	S	uc001khp.2	protein_coding	YES	CCDS7417.1			3198/3501								p.S1066F(1)	kidney(3)|skin(3)|ovary(1)|lung(1)	8	c.(3196-3198)TCC>TCA			PROSITE_profiles:PS51059,hmmpanther:PTHR24180,hmmpanther:PTHR24180:SF11,Gene3D:3.90.228.10,Pfam_domain:PF00644,Superfamily_domains:SSF56399	tankyrase, TRF1-interacting ankyrin-related				ENSP00000360689		25/27									COSM3397303	25/27	.		ENST00000371627	Transcript			positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	ENSG00000107854	g.chr10:93619322C>A	15677			LOW								--	--	1																																			1	1			p.S1066S	NM_025235	NP_079511			1	TNKS2_HUMAN	TNKS2	HGNC	Q9H2K2	TNKS2_HUMAN					25	3495	+		Colorectal(252;0.162)	UPI00000362BE	1066			PARP catalytic.		SNV	TNKS2,synonymous_variant,p.=,ENST00000371627,NM_025235.3;	uc001khp.2	c.3198C>A	3577/6157	2	2			c.3198C>A						10	SNP	c.(3196-3198)TCC>TCA	41	41		p.S1066F(1)	kidney(3)|skin(3)|ovary(1)|lung(1)	8	Broad	tankyrase, TRF1-interacting ankyrin-related			93619322		0.398	ENSG00000107854	16071	g.chr10:93619322C>A	positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			718			718	-25.022355	KEEP	3	1	0.25	73	63	3	1	0.25	6.650478	73	63	0.030534	1	0	0	0	0	0	0	1	0	--	--		0	A				229	GBM-32-1977-TP	p.S1066S	C	AAAACTCTTCCAAAAGCAATC	NM_025235	NP_079511	93619322	Q9H2K2	TNKS2_HUMAN	0			25	3495	+	A	A		Colorectal(252;0.162)	Silent	1066			PARP catalytic.			
TNKS2	0	broad.mit.edu	GRCh37	10	93579732	93579732	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01	TCGA-41-3393-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371627.4:c.670G>A	p.Val224Ile	p.V224I	ENST00000371627	NM_025235.3	224	Gta/Ata	0			1			A	V/I	uc001khp.2	protein_coding	YES	CCDS7417.1			670/3501									kidney(3)|skin(3)|ovary(1)|lung(1)	8	c.(670-672)GTA>ATA			PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24180,hmmpanther:PTHR24180:SF11,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	tankyrase, TRF1-interacting ankyrin-related				ENSP00000360689		27-Jun									COSM3397302	27-Jun	.		ENST00000371627	Transcript			positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	ENSG00000107854	g.chr10:93579732G>A	15677			MODERATE		0.665	neutral	getma.org/?cm=msa&ty=f&p=TNKS2_HUMAN&rb=215&re=307&var=V224I	getma.org/pdb.php?prot=TNKS2_HUMAN&from=215&to=307&var=V224I	getma.org/?cm=var&var=hg19,10,93579732,G,A&fts=all	V224I	--	--	1																																			1	1		benign(0.002)	p.V224I	NM_025235	NP_079511		tolerated(0.28)	1	TNKS2_HUMAN	TNKS2	HGNC	Q9H2K2	TNKS2_HUMAN					6	967	+		Colorectal(252;0.162)	UPI00000362BE	224			ANK 4.		SNV	TNKS2,missense_variant,p.Val224Ile,ENST00000371627,NM_025235.3;	uc001khp.2	c.670G>A	1049/6157	2	2			c.670G>A						10	SNP	c.(670-672)GTA>ATA	32	32			kidney(3)|skin(3)|ovary(1)|lung(1)	8	Broad	tankyrase, TRF1-interacting ankyrin-related			93579732		0.328	ENSG00000107854	16071	g.chr10:93579732G>A	positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			718			718	228.022286	KEEP	51	33	-1	92	61	51	33	-1	230.824603	92	61	0.372449	1	0	0	0	0	1	0	0	0	--	--		0	A				255	GBM-41-3393-TP	p.V224I	G	ATATAACAGAGTAAAGATTGT	NM_025235	NP_079511	93579732	Q9H2K2	TNKS2_HUMAN	0			6	967	+	A	A		Colorectal(252;0.162)	Missense_Mutation	224			ANK 4.			
TNN	63923	broad.mit.edu	GRCh37	1	175048687	175048687	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0210-01	TCGA-06-0210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000239462.4:c.628G>A	p.Gly210Ser	p.G210S	ENST00000239462	NM_022093.1	210	Ggc/Agc	0			1			A	G/S	uc001gkl.1	protein_coding	YES	CCDS30943.1			628/3900									large_intestine(5)|ovary(3)|central_nervous_system(1)	9	c.(628-630)GGC>AGC			Gene3D:2.10.25.10,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF167,SMART_domains:SM00181	tenascin N precursor				ENSP00000239462		19-Mar									COSM3400013	19-Mar	.		ENST00000239462	Transcript			cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		ENSG00000120332	g.chr1:175048687G>A	22942			MODERATE		4.39	high	getma.org/?cm=msa&ty=f&p=TENN_HUMAN&rb=199&re=229&var=G210S	NA	getma.org/?cm=var&var=hg19,1,175048687,G,A&fts=all	G210S	--	--	1																																		TNN_uc010pmx.1_Missense_Mutation_p.G210S	1	1		probably_damaging(0.959)	p.G210S	NM_022093	NP_071376		deleterious(0)	1	TENN_HUMAN	TNN	HGNC	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)			3	741	+		Breast(1374;0.000962)	UPI00001D7DA9	210			EGF-like 2.		SNV	TNN,missense_variant,p.Gly210Ser,ENST00000239462,NM_022093.1;	uc001gkl.1	c.628G>A	741/5008	2	2			c.628G>A						1	SNP	c.(628-630)GGC>AGC	28	28			large_intestine(5)|ovary(3)|central_nervous_system(1)	9	Broad	tenascin N precursor			175048687		0.701	ENSG00000120332	16073	g.chr1:175048687G>A	cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				470			470	13.072155	KEEP	2	4	-1	5	6	2	4	-1	13.323301	5	6	0.357143	1	0	0	0	0	1	0	0	0	--	--		0	A			TNN_uc010pmx.1_Missense_Mutation_p.G210S	47	GBM-06-0210-TP	p.G210S	G	CAGCGGACACGGCGAGTGCGT	NM_022093	NP_071376	175048687	Q9UQP3	TENN_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	3	741	+	A	A		Breast(1374;0.000962)	Missense_Mutation	210			EGF-like 2.			
TNN	0	broad.mit.edu	GRCh37	1	175067712	175067712	+	synonymous_variant	Silent	SNP	C	C	T	rs150075962	by1000genomes	TCGA-12-5301-01	TCGA-12-5301-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000239462.4:c.2100C>T	p.Ala700=	p.A700=	ENST00000239462	NM_022093.1	700	gcC/gcT	0		T:0	1	T:0		T	A	uc001gkl.1	protein_coding	YES	CCDS30943.1			2100/3900									large_intestine(5)|ovary(3)|central_nervous_system(1)	9	c.(2098-2100)GCC>GCT			Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF167,Superfamily_domains:SSF49265	tenascin N precursor		T:0.001		ENSP00000239462	T:0	19-Sep	0.000272	9.62E-05	0.000173	0.00324		1.50E-05		6.06E-05	rs200734177,COSM414307	19-Sep	common_variant		ENST00000239462	Transcript		T:0.0002	cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		ENSG00000120332	g.chr1:175067712C>T	22942			LOW								--	--	1																																		TNN_uc010pmx.1_Silent_p.A611A	0,1	1			p.A700A	NM_022093	NP_071376	T:0		0,1	TENN_HUMAN	TNN	HGNC	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)			9	2213	+		Breast(1374;0.000962)	UPI00001D7DA9	700			Fibronectin type-III 5.		SNV	TNN,synonymous_variant,p.=,ENST00000239462,NM_022093.1;	uc001gkl.1	c.2100C>T	2213/5008	1	1			c.2100C>T						1	SNP	c.(2098-2100)GCC>GCT	7	7			large_intestine(5)|ovary(3)|central_nervous_system(1)	9	Broad	tenascin N precursor			175067712		0.572	ENSG00000120332	16073	g.chr1:175067712C>T	cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix			p.A700A(JHOS2-Tumor)|p.A700A(RERFLCAD2-Tumor)	470		p.A700A(JHOS2-Tumor)|p.A700A(RERFLCAD2-Tumor)	470	169.291828	KEEP	30	39	-1	50	66	30	39	-1	171.192273	50	66	0.382166	1	0	0	0	0	0	0	1	0	--	--		0	T			TNN_uc010pmx.1_Silent_p.A611A	131	GBM-12-5301-TP	p.A700A	C	GCAAGAAGGCCGACACCAAGG	NM_022093	NP_071376	175067712	Q9UQP3	TENN_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	9	2213	+	T	T		Breast(1374;0.000962)	Silent	700			Fibronectin type-III 5.			
TNN	63923		GRCh37	1	175097757	175097757	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0151-01	TCGA-06-0151-01																				ENST00000239462.4:c.3205G>A	p.Asp1069Asn	p.D1069N	ENST00000239462	NM_022093.1	1069	Gac/Aac	0																																																																																																																																																																																																																																												
TNNC2	0	broad.mit.edu	GRCh37	20	44453472	44453472	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01	TCGA-76-4935-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372555.3:c.5C>T	p.Thr2Met	p.T2M	ENST00000372555	NM_003279.2	2	aCg/aTg	0			1			A	T/M	uc002xpr.2	protein_coding	YES	CCDS13375.1			5/483									upper_aerodigestive_tract(1)	1	c.(4-6)ACG>ATG			hmmpanther:PTHR23064,hmmpanther:PTHR23064:SF2	fast skeletal muscle troponin C				ENSP00000361636		6-Feb									COSM3405150	6-Feb	.		ENST00000372555	Transcript			muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium ion binding	ENSG00000101470	g.chr20:44453472G>A	11944			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=TNNC2_HUMAN&rb=1&re=30&var=T2M	getma.org/pdb.php?prot=TNNC2_HUMAN&from=1&to=30&var=T2M	getma.org/?cm=var&var=hg19,20,44453472,G,A&fts=all	T2M	--	--	1																																			1	1		probably_damaging(0.996)	p.T2M	NM_003279	NP_003270		deleterious(0)	1	TNNC2_HUMAN	TNNC2	HGNC	P02585	TNNC2_HUMAN			Q6FH92_HUMAN,C9J7T9_HUMAN		2	71	-		Myeloproliferative disorder(115;0.0122)	UPI000014A6DB	2	TD -> DT (in Ref. 6; AA sequence).				SNV	TNNC2,missense_variant,p.Thr2Met,ENST00000372555,NM_003279.2;TNNC2,splice_region_variant,,ENST00000372557,;	uc002xpr.2	c.5C>T	98/710	2	2			c.5C>T						20	SNP	c.(4-6)ACG>ATG	25	25			upper_aerodigestive_tract(1)	1	Broad	fast skeletal muscle troponin C			44453472		0.612	ENSG00000101470	16075	g.chr20:44453472G>A	muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium ion binding							358.810968	KEEP	52	91	-1	84	109	52	91	-1	360.050627	84	109	0.429078	1	0	0	0	0	1	0	0	0	--	--		0	A				273	GBM-76-4935-TP	p.T2M	G	CTGCTGGTCCGTCTGCAGGAG	NM_003279	NP_003270	44453472	P02585	TNNC2_HUMAN	0			2	71	-	A	A		Myeloproliferative disorder(115;0.0122)	Missense_Mutation	2	TD -> DT (in Ref. 6; AA sequence).					
TNNI3	7137		GRCh37	19	55665416	55665416	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000344887.5:c.531G>A	p.Lys177=	p.K177=	ENST00000344887	NM_000363.4	177	aaG/aaA	0																																																																																																																																																																																																																																												
TNNT1	0	broad.mit.edu	GRCh37	19	55645562	55645562	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-2494-01	TCGA-32-2494-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000588981.1:c.622G>C	p.Ala208Pro	p.A208P	ENST00000588981	NM_003283.4	208	Gcc/Ccc	0			1			G	A/P	uc002qjb.3	protein_coding	YES	CCDS12917.1			622/837									ovary(1)	1	c.(622-624)GCC>CCC			hmmpanther:PTHR11521:SF6,hmmpanther:PTHR11521,Gene3D:1.20.5.350,Superfamily_domains:SSF90250	troponin T1, skeletal, slow isoform a				ENSP00000467176		14-Dec									COSM475293	14-Dec	.		ENST00000588981	Transcript	1		muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding	ENSG00000105048	g.chr19:55645562C>G	11948			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TNNT1_HUMAN&rb=69&re=211&var=A208P	getma.org/pdb.php?prot=TNNT1_HUMAN&from=69&to=211&var=A208P	getma.org/?cm=var&var=hg19,19,55645562,C,G&fts=all	A208P	--	--	1																																		TNNT1_uc002qiz.3_Intron|TNNT1_uc002qja.3_Intron|TNNT1_uc002qjc.3_Intron|TNNT1_uc002qje.3_Intron|TNNT1_uc002qjd.3_Intron	1	1		benign(0.164)	p.A208P	NM_003283	NP_003274		tolerated_low_confidence(0.25)	1	TNNT1_HUMAN	TNNT1	HGNC	P13805	TNNT1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)	Q56R94_HUMAN,M0QZU8_HUMAN		12	711	-			UPI000016A37B	208					SNV	TNNT1,missense_variant,p.Ala208Pro,ENST00000588981,NM_003283.4;TNNT1,intron_variant,,ENST00000587465,;TNNT1,intron_variant,,ENST00000587758,;TNNT1,intron_variant,,ENST00000585321,;TNNT1,intron_variant,,ENST00000291901,NM_001126132.1;TNNT1,intron_variant,,ENST00000536926,;TNNT1,intron_variant,,ENST00000356783,NM_001126133.1;TNNT1,intron_variant,,ENST00000593194,;TNNT1,intron_variant,,ENST00000588426,;TNNT1,intron_variant,,ENST00000589745,;TNNT1,intron_variant,,ENST00000586649,;TNNT1,downstream_gene_variant,,ENST00000593046,;TNNT1,downstream_gene_variant,,ENST00000589226,;TNNT1,downstream_gene_variant,,ENST00000588147,;TNNT1,downstream_gene_variant,,ENST00000592920,;TNNT1,intron_variant,,ENST00000587089,;	uc002qjb.3	c.622G>C	827/1163	3	3			c.622G>C						19	SNP	c.(622-624)GCC>CCC	54	54			ovary(1)	1	Broad	troponin T1, skeletal, slow isoform a			55645562		0.448	ENSG00000105048	16080	g.chr19:55645562C>G	muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding							5.037944	KEEP	0	2	-1	8	6	0	2	-1	7.236286	8	6	0.125	1	0	0	0	0	1	0	0	0	--	--		0	G			TNNT1_uc002qiz.3_Intron|TNNT1_uc002qja.3_Intron|TNNT1_uc002qjc.3_Intron|TNNT1_uc002qje.3_Intron|TNNT1_uc002qjd.3_Intron	236	GBM-32-2494-TP	p.A208P	C	GGCAGCCAGGCAGACCGGGCC	NM_003283	NP_003274	55645562	P13805	TNNT1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)	12	711	-	G	G			Missense_Mutation	208						
TNNT1	7138		GRCh37	19	55648558	55648558	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000588981.1:c.524G>A	p.Arg175Gln	p.R175Q	ENST00000588981	NM_003283.4	175	cGg/cAg	0																																																																																																																																																																																																																																												
TNNT2	0	broad.mit.edu	GRCh37	1	201331099	201331101	+	inframe_deletion	In_Frame_Del	DEL	TCT	TCT	-	rs45578238;rs121964859		TCGA-19-2629-01	TCGA-19-2629-01	TCT	TCT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000236918.7:c.644_646delAGA	p.Lys215del	p.K215del	ENST00000236918		215	aAGAtt/att	0			1			-	KI/I	uc001gwf.2	protein_coding					644-646/882						pathogenic				0	c.(649-654)AAGATT>ATT			Gene3D:1.20.5.350,Pfam_domain:PF00992,hmmpanther:PTHR11521,hmmpanther:PTHR11521:SF5,Superfamily_domains:SSF90250	troponin T type 2, cardiac isoform 1				ENSP00000236918		15-Dec									rs45578238,COSM1337830	15-Dec	.		ENST00000236918	Transcript	1		ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding	ENSG00000118194	g.chr1:201331099_201331101delTCT	11949			MODERATE								--	--	1																																OREG0014076	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	TNNT2_uc009wzn.2_5'Flank|TNNT2_uc009wzo.2_5'Flank|TNNT2_uc009wzp.2_RNA|TNNT2_uc001gwg.2_In_Frame_Del_p.K207del|TNNT2_uc001gwh.2_In_Frame_Del_p.K204del|TNNT2_uc001gwi.2_In_Frame_Del_p.K177del|TNNT2_uc009wzr.2_In_Frame_Del_p.K148del	1,1				p.K217del	NM_000364	NP_000355			0,1		TNNT2	HGNC	P45379	TNNT2_HUMAN			Q8IZA1_HUMAN,F8W748_HUMAN,A9QLG2_HUMAN,A9QLG1_HUMAN		13	719_721	-			UPI00015E0CF8	220		Missing (in CMD1D).			deletion	TNNT2,inframe_deletion,p.Lys210del,ENST00000509001,NM_001276347.1;TNNT2,inframe_deletion,p.Lys219del,ENST00000458432,;TNNT2,inframe_deletion,p.Lys213del,ENST00000421663,;TNNT2,inframe_deletion,p.Lys207del,ENST00000367322,NM_001001431.2,NM_000364.3;TNNT2,inframe_deletion,p.Lys210del,ENST00000367318,NM_001001430.2,NM_001276345.1;TNNT2,inframe_deletion,p.Lys215del,ENST00000236918,;TNNT2,inframe_deletion,p.Lys210del,ENST00000367317,;TNNT2,inframe_deletion,p.Lys207del,ENST00000367315,;TNNT2,inframe_deletion,p.Lys205del,ENST00000360372,;TNNT2,inframe_deletion,p.Lys177del,ENST00000367320,NM_001276346.1;TNNT2,inframe_deletion,p.Lys204del,ENST00000438742,NM_001001432.2;TNNT2,downstream_gene_variant,,ENST00000455702,;TNNT2,downstream_gene_variant,,ENST00000422165,;TNNT2,downstream_gene_variant,,ENST00000412633,;TNNT2,non_coding_transcript_exon_variant,,ENST00000460780,;TNNT2,non_coding_transcript_exon_variant,,ENST00000479297,;TNNT2,non_coding_transcript_exon_variant,,ENST00000476888,;TNNT2,downstream_gene_variant,,ENST00000466570,;TNNT2,downstream_gene_variant,,ENST00000475686,;TNNT2,upstream_gene_variant,,ENST00000477035,;TNNT2,non_coding_transcript_exon_variant,,ENST00000491504,;TNNT2,non_coding_transcript_exon_variant,,ENST00000515042,;TNNT2,downstream_gene_variant,,ENST00000503459,;TNNT2,downstream_gene_variant,,ENST00000445079,;	uc001gwf.2	c.650_652delAGA	644-646/1078	5	5			c.650_652delAGA						1	DEL	c.(649-654)AAGATT>ATT	3	3				0	Broad	troponin T type 2, cardiac isoform 1			201331101		0.576	ENSG00000118194	16081	g.chr1:201331099_201331101delTCT	ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding																				0.04	1	1	0	1	0	0	0	0	0	--	--		0	-	OREG0014076	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	TNNT2_uc009wzn.2_5'Flank|TNNT2_uc009wzo.2_5'Flank|TNNT2_uc009wzp.2_RNA|TNNT2_uc001gwg.2_In_Frame_Del_p.K207del|TNNT2_uc001gwh.2_In_Frame_Del_p.K204del|TNNT2_uc001gwi.2_In_Frame_Del_p.K177del|TNNT2_uc009wzr.2_In_Frame_Del_p.K148del	166	GBM-19-2629-TP	p.K217del	TCT	TCAGCCAGAATCTTCTTCTTCTT	NM_000364	NP_000355	201331099	P45379	TNNT2_HUMAN	0			13	719_721	-	-	-			In_Frame_Del	220		Missing (in CMD1D).				
TNNT3	0	broad.mit.edu	GRCh37	11	1956149	1956149	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397301.1:c.714C>T	p.Asp238=	p.D238=	ENST00000397301		238	gaC/gaT	0			1			T	D	uc001luu.3	protein_coding					714/810									ovary(1)	1	c.(679-681)GAC>GAT			hmmpanther:PTHR11521,hmmpanther:PTHR11521:SF4,Gene3D:1.20.5.350,Superfamily_domains:SSF90250	troponin T3, skeletal, fast isoform 1				ENSP00000380468		15/17	4.12E-05					4.55E-05		0.000121	rs754208651,COSM3397604,COSM3397606,COSM3397605	15/17	.		ENST00000397301	Transcript	1		muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding	ENSG00000130595	g.chr11:1956149C>T	11950			LOW								--	--	1																																		TNNT3_uc001lun.2_Silent_p.D123D|TNNT3_uc001luw.3_Silent_p.D219D|TNNT3_uc001luo.3_Silent_p.D219D|TNNT3_uc001lup.3_Silent_p.D225D|TNNT3_uc001luq.3_Silent_p.D219D|TNNT3_uc001lur.2_Silent_p.D219D|TNNT3_uc010qxf.1_Silent_p.D225D|TNNT3_uc010qxg.1_Silent_p.D159D	0,1,1,1				p.D227D	NM_006757	NP_006748			0,1,1,1	TNNT3_HUMAN	TNNT3	HGNC	P45378	TNNT3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)	H2KMD7_HUMAN		14	893	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	UPI0000ED9058	238					SNV	TNNT3,splice_region_variant,p.=,ENST00000381558,;TNNT3,splice_region_variant,p.=,ENST00000381561,;TNNT3,splice_region_variant,p.=,ENST00000278317,NM_006757.3;TNNT3,splice_region_variant,p.=,ENST00000381548,;TNNT3,splice_region_variant,p.=,ENST00000360603,;TNNT3,splice_region_variant,p.=,ENST00000381549,NM_001042782.2;TNNT3,splice_region_variant,p.=,ENST00000381589,NM_001042781.2;TNNT3,splice_region_variant,p.=,ENST00000381579,NM_001042780.2;TNNT3,splice_region_variant,p.=,ENST00000381557,;TNNT3,splice_region_variant,p.=,ENST00000381563,;TNNT3,splice_region_variant,p.=,ENST00000397301,;TNNT3,splice_region_variant,p.=,ENST00000344578,;TNNT3,splice_region_variant,p.=,ENST00000397304,;TNNT3,splice_region_variant,p.=,ENST00000446240,;TNNT3,synonymous_variant,p.=,ENST00000453458,;TNNT3,non_coding_transcript_exon_variant,,ENST00000493234,;TNNT3,downstream_gene_variant,,ENST00000492075,;TNNT3,upstream_gene_variant,,ENST00000473100,;	uc001luu.3	c.681C>T	722/818	2	2			c.681C>T						11	SNP	c.(679-681)GAC>GAT	42	42			ovary(1)	1	Broad	troponin T3, skeletal, fast isoform 1			1956149		0.617	ENSG00000130595	16082	g.chr11:1956149C>T	muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding							-22.625753	KEEP	3	5	-1	66	94	3	5	-1	13.811783	66	94	0.042945	1	0	0	0	0	0	0	1	0	--	--		0	T			TNNT3_uc001lun.2_Silent_p.D123D|TNNT3_uc001luw.3_Silent_p.D219D|TNNT3_uc001luo.3_Silent_p.D219D|TNNT3_uc001lup.3_Silent_p.D225D|TNNT3_uc001luq.3_Silent_p.D219D|TNNT3_uc001lur.2_Silent_p.D219D|TNNT3_uc010qxf.1_Silent_p.D225D|TNNT3_uc010qxg.1_Silent_p.D159D	230	GBM-32-1979-TP	p.D227D	C	AGAAATATGACGTGAGTCCCG	NM_006757	NP_006748	1956149	P45378	TNNT3_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)	14	893	+	T	T		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	Silent	238						
TNPO2	0	broad.mit.edu	GRCh37	19	12813636	12813636	+	splice_donor_variant	Splice_Site	SNP	C	C	T			TCGA-06-6695-01	TCGA-06-6695-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000425528.1:c.2305+1G>A		p.X769_splice	ENST00000425528				0			1			T		uc002muo.2	protein_coding	YES	CCDS45991.1			2305/2694									ovary(1)	1	c.e20+1				transportin 2 (importin 3, karyopherin beta 2b)				ENSP00000407182											COSM3403781,COSM3403780		.		ENST00000425528	Transcript			intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	ENSG00000105576	g.chr19:12813636C>T	19998			HIGH	21/25							--	--	1																																		TNPO2_uc002mup.2_Splice_Site_p.A861_splice|TNPO2_uc002muq.2_Splice_Site_p.A769_splice|TNPO2_uc002mur.2_Splice_Site_p.A769_splice	1,1	1			p.G769_splice	NM_001136196	NP_001129668			1,1	TNPO2_HUMAN	TNPO2	HGNC	O14787	TNPO2_HUMAN			K7ESC1_HUMAN,K7ENW1_HUMAN,K7EMA3_HUMAN		20	2490	-			UPI000013F0EA						SNV	TNPO2,splice_donor_variant,,ENST00000425528,;TNPO2,splice_donor_variant,,ENST00000441499,NM_001136195.1;TNPO2,splice_donor_variant,,ENST00000450764,;TNPO2,splice_donor_variant,,ENST00000356861,NM_013433.4;TNPO2,splice_donor_variant,,ENST00000588216,;TNPO2,splice_donor_variant,,ENST00000592287,NM_001136196.1;TNPO2,splice_donor_variant,,ENST00000589149,;SNORD41,downstream_gene_variant,,ENST00000386967,NR_002751.1;TNPO2,splice_donor_variant,,ENST00000587155,;TNPO2,downstream_gene_variant,,ENST00000585886,;TNPO2,downstream_gene_variant,,ENST00000588491,;TNPO2,downstream_gene_variant,,ENST00000589572,;TNPO2,downstream_gene_variant,,ENST00000587068,;	uc002muo.2	c.2305_splice	-/5122	5	1			c.2305_splice						19	SNP	c.e20+1	10	10			ovary(1)	1	Broad	transportin 2 (importin 3, karyopherin beta 2b)			12813636		0.582	ENSG00000105576	16086	g.chr19:12813636C>T	intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity							152.865568	KEEP	33	32	-1	83	76	33	32	-1	159.726596	83	76	0.305419	1	0	0	0	0	0	0	0	1	--	--		0	T			TNPO2_uc002mup.2_Splice_Site_p.A861_splice|TNPO2_uc002muq.2_Splice_Site_p.A769_splice|TNPO2_uc002mur.2_Splice_Site_p.A769_splice	110	GBM-06-6695-TP	p.G769_splice	C	CAGGTGCCCACCTGTGTTTTC	NM_001136196	NP_001129668	12813636	O14787	TNPO2_HUMAN	0			20	2490	-	T	T			Splice_Site							
TNPO2	0	broad.mit.edu	GRCh37	19	12825902	12825902	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000425528.1:c.730C>T	p.Arg244Trp	p.R244W	ENST00000425528		244	Cgg/Tgg	0	A:0		1			A	R/W	uc002muo.2	protein_coding	YES	CCDS45991.1			730/2694									ovary(1)	1	c.(730-732)CGG>TGG			Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR10527:SF17,hmmpanther:PTHR10527	transportin 2 (importin 3, karyopherin beta 2b)			A:0.0001	ENSP00000407182		26-Sep									rs373758530,COSM3403785,COSM3403784	26-Sep	.		ENST00000425528	Transcript			intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	ENSG00000105576	g.chr19:12825902G>A	19998			MODERATE		3.045	medium	getma.org/?cm=msa&ty=f&p=TNPO2_HUMAN&rb=100&re=299&var=R244W	getma.org/pdb.php?prot=TNPO2_HUMAN&from=100&to=299&var=R244W	getma.org/?cm=var&var=hg19,19,12825902,G,A&fts=all	R244W	--	--	1																																		TNPO2_uc002mup.2_Missense_Mutation_p.R336W|TNPO2_uc002muq.2_Missense_Mutation_p.R244W|TNPO2_uc002mur.2_Missense_Mutation_p.R244W	0,1,1	1		possibly_damaging(0.596)	p.R244W	NM_001136196	NP_001129668		tolerated(0.05)	0,1,1	TNPO2_HUMAN	TNPO2	HGNC	O14787	TNPO2_HUMAN			K7ESC1_HUMAN,K7ENW1_HUMAN,K7EMA3_HUMAN		8	915	-			UPI000013F0EA	244			HEAT 3.		SNV	TNPO2,missense_variant,p.Arg244Trp,ENST00000425528,;TNPO2,missense_variant,p.Arg244Trp,ENST00000441499,NM_001136195.1;TNPO2,missense_variant,p.Arg244Trp,ENST00000450764,;TNPO2,missense_variant,p.Arg244Trp,ENST00000356861,NM_013433.4;TNPO2,missense_variant,p.Arg244Trp,ENST00000588216,;TNPO2,missense_variant,p.Arg244Trp,ENST00000592287,NM_001136196.1;TNPO2,downstream_gene_variant,,ENST00000590781,;TNPO2,downstream_gene_variant,,ENST00000589337,;TNPO2,intron_variant,,ENST00000589956,;TNPO2,missense_variant,p.Arg244Trp,ENST00000585886,;TNPO2,3_prime_UTR_variant,,ENST00000586775,;TNPO2,non_coding_transcript_exon_variant,,ENST00000588151,;TNPO2,downstream_gene_variant,,ENST00000587654,;TNPO2,downstream_gene_variant,,ENST00000588484,;	uc002muo.2	c.730C>T	1088/5122	1	1			c.730C>T						19	SNP	c.(730-732)CGG>TGG	64	64			ovary(1)	1	Broad	transportin 2 (importin 3, karyopherin beta 2b)			12825902		0.632	ENSG00000105576	16086	g.chr19:12825902G>A	intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity							-5.520611	KEEP	2	1	-1	31	29	2	1	-1	6.530108	31	29	0.052632	1	0	0	0	0	1	0	0	0	--	--		0	A			TNPO2_uc002mup.2_Missense_Mutation_p.R336W|TNPO2_uc002muq.2_Missense_Mutation_p.R244W|TNPO2_uc002mur.2_Missense_Mutation_p.R244W	197	GBM-27-1838-TP	p.R244W	G	CTGTCAATCCGCACTTCCAGA	NM_001136196	NP_001129668	12825902	O14787	TNPO2_HUMAN	0			8	915	-	A	A			Missense_Mutation	244			HEAT 3.			
TNPO3	0	broad.mit.edu	GRCh37	7	128612562	128612562	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2615-01	TCGA-32-2615-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265388.5:c.2348C>T	p.Ser783Phe	p.S783F	ENST00000265388		783	tCt/tTt	0			1			A	S/F	uc003vol.1	protein_coding	YES	CCDS5809.1			2348/2772									ovary(2)|skin(2)|lung(1)	5	c.(2347-2349)TCT>TTT			hmmpanther:PTHR12363,hmmpanther:PTHR12363:SF5,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	transportin 3				ENSP00000265388		19/23									COSM3411573,COSM3411574	19/23	.		ENST00000265388	Transcript	1		splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	ENSG00000064419	g.chr7:128612562G>A	17103			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TNPO3_HUMAN&rb=650&re=849&var=S783F	NA	getma.org/?cm=var&var=hg19,7,128612562,G,A&fts=all	S783F	--	--	1																																		TNPO3_uc010llx.1_Missense_Mutation_p.S194F|TNPO3_uc003vom.1_Missense_Mutation_p.S717F|TNPO3_uc010lly.1_Missense_Mutation_p.S817F|TNPO3_uc010llz.1_Missense_Mutation_p.S719F	1,1	1		benign(0.212)	p.S783F	NM_012470	NP_036602		deleterious(0)	1,1	TNPO3_HUMAN	TNPO3	HGNC	Q9Y5L0	TNPO3_HUMAN			E9PFH4_HUMAN,B3KMX1_HUMAN		19	2722	-			UPI0000072FAB	783					SNV	TNPO3,missense_variant,p.Ser817Phe,ENST00000393245,NM_012470.3;TNPO3,missense_variant,p.Ser717Phe,ENST00000482320,;TNPO3,missense_variant,p.Ser719Phe,ENST00000471234,NM_001191028.2;TNPO3,missense_variant,p.Ser783Phe,ENST00000265388,;TNPO3,missense_variant,p.Ser817Phe,ENST00000471166,;RN7SL306P,downstream_gene_variant,,ENST00000492941,;	uc003vol.1	c.2348C>T	2492/3245	2	2			c.2348C>T						7	SNP	c.(2347-2349)TCT>TTT	35	35			ovary(2)|skin(2)|lung(1)	5	Broad	transportin 3			128612562		0.478	ENSG00000064419	16087	g.chr7:128612562G>A	splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	Pancreas(147;583 2585 39696 52331)			Pancreas(147;583 2585 39696 52331)			12.539092	KEEP	6	8	-1	79	57	6	8	-1	34.412058	79	57	0.101449	1	0	0	0	0	1	0	0	0	--	--		0	A			TNPO3_uc010llx.1_Missense_Mutation_p.S194F|TNPO3_uc003vom.1_Missense_Mutation_p.S717F|TNPO3_uc010lly.1_Missense_Mutation_p.S817F|TNPO3_uc010llz.1_Missense_Mutation_p.S719F	239	GBM-32-2615-TP	p.S783F	G	CAGGGTAGTAGAGGCAATGGC	NM_012470	NP_036602	128612562	Q9Y5L0	TNPO3_HUMAN	0			19	2722	-	A	A			Missense_Mutation	783						
TNRC18	84629	broad.mit.edu	GRCh37	7	5417608	5417608	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0749-01	TCGA-06-0749-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000430969.1:c.2200C>T	p.Arg734Trp	p.R734W	ENST00000430969	NM_001080495.2	734	Cgg/Tgg	0			1			A	R/W	uc003soi.3	protein_coding	YES	CCDS47534.1			2200/8907										0	c.(2200-2202)CGG>TGG			hmmpanther:PTHR12505:SF21,hmmpanther:PTHR12505	trinucleotide repeat containing 18				ENSP00000395538		30-Jun	8.26E-06	0.000105							rs776348892,COSM3412162,COSM3412161	30-Jun	.		ENST00000430969	Transcript					DNA binding	ENSG00000182095	g.chr7:5417608G>A	11962			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=TNC18_HUMAN&rb=601&re=800&var=R734W	NA	getma.org/?cm=var&var=hg19,7,5417608,G,A&fts=all	R734W	--	--	1																																			0,1,1	1		probably_damaging(0.991)	p.R734W	NM_001080495	NP_001073964			0,1,1	TNC18_HUMAN	TNRC18	HGNC	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	H7C3U5_HUMAN,C9J9K1_HUMAN		6	2549	-		Ovarian(82;0.142)	UPI00016632FD	734					SNV	TNRC18,missense_variant,p.Arg734Trp,ENST00000399537,;TNRC18,missense_variant,p.Arg734Trp,ENST00000430969,NM_001080495.2;TNRC18,missense_variant,p.Arg136Trp,ENST00000413081,;	uc003soi.3	c.2200C>T	2549/10562	2	2			c.2200C>T						7	SNP	c.(2200-2202)CGG>TGG	33	33				0	Broad	trinucleotide repeat containing 18			5417608		0.682	ENSG00000182095	16089	g.chr7:5417608G>A			DNA binding							19.124518	KEEP	12	7	-1	41	64	12	7	-1	27.16767	41	64	0.15493	1	0	0	0	0	1	0	0	0	--	--		0	A				69	GBM-06-0749-TP	p.R734W	G	CGTTCCTCCCGGTGTCTGGCC	NM_001080495	NP_001073964	5417608	O15417	TNC18_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	6	2549	-	A	A		Ovarian(82;0.142)	Missense_Mutation	734						
TNRC18	0	broad.mit.edu	GRCh37	7	5354614	5354614	+	splice_donor_variant	Splice_Site	SNP	C	C	A			TCGA-26-1442-01	TCGA-26-1442-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000430969.1:c.7027+1G>T		p.X2343_splice	ENST00000430969	NM_001080495.2			0			1			A		uc003soi.3	protein_coding	YES	CCDS47534.1			7027/8907										0	c.e26+1				trinucleotide repeat containing 18				ENSP00000395538											COSM3412160,COSM3412159,COSM3412158		.		ENST00000430969	Transcript					DNA binding	ENSG00000182095	g.chr7:5354614C>A	11962			HIGH	26/29							--	--	1																																			1,1,1	1			p.D2343_splice	NM_001080495	NP_001073964			1,1,1	TNC18_HUMAN	TNRC18	HGNC	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	H7C3U5_HUMAN,C9J9K1_HUMAN		26	7376	-		Ovarian(82;0.142)	UPI00016632FD						SNV	TNRC18,splice_donor_variant,,ENST00000430969,NM_001080495.2;TNRC18,splice_donor_variant,,ENST00000328270,;TNRC18,missense_variant,p.Gly2343Val,ENST00000399537,;	uc003soi.3	c.7027_splice	-/10562	5	2			c.7027_splice						7	SNP	c.e26+1	17	17				0	Broad	trinucleotide repeat containing 18			5354614		0.672	ENSG00000182095	16089	g.chr7:5354614C>A			DNA binding							17.54683	KEEP	2	5	0.714285714	5	3	2	5	0.714285714	17.609272	5	3	0.428571	1	0	0	0	0	0	0	0	1	--	--		0	A				180	GBM-26-1442-TP	p.D2343_splice	C	GGCCAACCTACCACCCTTGGC	NM_001080495	NP_001073964	5354614	O15417	TNC18_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	26	7376	-	A	A		Ovarian(82;0.142)	Splice_Site							
TNRC6A	0	broad.mit.edu	GRCh37	16	24807240	24807240	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-27-2518-01	TCGA-27-2518-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395799.3:c.3547delA	p.Arg1183GlyfsTer7	p.R1183Gfs*7	ENST00000395799	NM_014494.2	1181	Aaa/aa	0			1			-	K/X	uc002dmm.2	protein_coding	YES	CCDS10624.2			3541/5889									ovary(2)	2	c.(3541-3543)AAAfs			Pfam_domain:PF10427,hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF28,Low_complexity_(Seg):seg	trinucleotide repeat containing 6A				ENSP00000379144		25-Sep									COSM1376920	25-Sep	.		ENST00000395799	Transcript			negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	ENSG00000090905	g.chr16:24807240delA	11969	6		HIGH								--	--	1																																		TNRC6A_uc010bxs.2_Frame_Shift_Del_p.K928fs|TNRC6A_uc010vcc.1_Frame_Shift_Del_p.K928fs|TNRC6A_uc002dmn.2_Frame_Shift_Del_p.K928fs|TNRC6A_uc002dmo.2_Frame_Shift_Del_p.K869fs	1	1			p.K1181fs	NM_014494	NP_055309			1	TNR6A_HUMAN	TNRC6A	HGNC	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	G8JLL8_HUMAN		9	3655	+			UPI000059D33E	1181			Sufficient for interaction with EIF2C1 and EIF2C4.		deletion	TNRC6A,frameshift_variant,p.Arg1183GlyfsTer7,ENST00000395799,NM_014494.2;TNRC6A,frameshift_variant,p.Arg1183GlyfsTer7,ENST00000315183,;TNRC6A,frameshift_variant,p.Arg176GlyfsTer7,ENST00000450465,;TNRC6A,3_prime_UTR_variant,,ENST00000491718,;TNRC6A,non_coding_transcript_exon_variant,,ENST00000568903,;TNRC6A,non_coding_transcript_exon_variant,,ENST00000561726,;TNRC6A,non_coding_transcript_exon_variant,,ENST00000567232,;TNRC6A,upstream_gene_variant,,ENST00000568806,;	uc002dmm.2	c.3541delA	3670/8438	5	5			c.3541delA						16	DEL	c.(3541-3543)AAAfs	15	15			ovary(2)	2	Broad	trinucleotide repeat containing 6A			24807240		0.224	ENSG00000090905	16090	g.chr16:24807240delA	negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding																				0.02	1	1	0	1	0	0	0	0	0	--	--		0	-			TNRC6A_uc010bxs.2_Frame_Shift_Del_p.K928fs|TNRC6A_uc010vcc.1_Frame_Shift_Del_p.K928fs|TNRC6A_uc002dmn.2_Frame_Shift_Del_p.K928fs|TNRC6A_uc002dmo.2_Frame_Shift_Del_p.K869fs	198	GBM-27-2518-TP	p.K1181fs	A	TCTGAGTGGCAAAAAAAGGAG	NM_014494	NP_055309	24807240	Q8NDV7	TNR6A_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0394)	9	3655	+	-	-			Frame_Shift_Del	1181			Sufficient for interaction with EIF2C1 and EIF2C4.			
TNRC6C	57690	broad.mit.edu	GRCh37	17	76082938	76082938	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335749.4:c.3557C>T	p.Ala1186Val	p.A1186V	ENST00000335749	NM_001142640.1	1186	gCg/gTg	0			1			T	A/V	uc002jud.2	protein_coding		CCDS45798.1			3566/5073									ovary(1)|central_nervous_system(1)	2	c.(3565-3567)GCG>GTG			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF12938,hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF9	trinucleotide repeat containing 6C isoform 2				ENSP00000301624		13/20	8.25E-06		8.66E-05						rs763651945,COSM273366,COSM3403303	13/20	.		ENST00000301624	Transcript			gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	ENSG00000078687	g.chr17:76082938C>T	29318			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=TNR6C_HUMAN&rb=991&re=1251&var=A1189V	NA	getma.org/?cm=var&var=hg19,17,76082938,C,T&fts=all	A1189V	--	--	1																																		TNRC6C_uc002juf.2_Missense_Mutation_p.A1186V	0,1,1			probably_damaging(0.995)	p.A1189V	NM_018996	NP_061869		deleterious(0.01)	0,1,1	TNR6C_HUMAN	TNRC6C	HGNC	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		K7ELY5_HUMAN,K7EKN9_HUMAN		14	4166	+			UPI00001B5D28	1189			Potential.		SNV	TNRC6C,missense_variant,p.Ala1186Val,ENST00000335749,NM_001142640.1;TNRC6C,missense_variant,p.Ala1189Val,ENST00000301624,NM_018996.3;TNRC6C,missense_variant,p.Ala1186Val,ENST00000588847,;TNRC6C,missense_variant,p.Ala1189Val,ENST00000588061,;TNRC6C,missense_variant,p.Ala1189Val,ENST00000541771,;TNRC6C,missense_variant,p.Ala1186Val,ENST00000544502,;TNRC6C,upstream_gene_variant,,ENST00000592251,;	uc002jud.2	c.3566C>T	4135/9632	1	1			c.3566C>T						17	SNP	c.(3565-3567)GCG>GTG	7	7			ovary(1)|central_nervous_system(1)	2	Broad	trinucleotide repeat containing 6C isoform 2			76082938		0.592	ENSG00000078687	16092	g.chr17:76082938C>T	gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding							-44.878183	KEEP	4	2	-1	100	131	4	2	-1	7.094811	100	131	0.0199	1	0	0	0	0	1	0	0	0	--	--		0	T			TNRC6C_uc002juf.2_Missense_Mutation_p.A1186V	12	GBM-06-0125-TP	p.A1189V	C	TGCCAGGTTGCGCGCACAATC	NM_018996	NP_061869	76082938	Q9HCJ0	TNR6C_HUMAN	0	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		14	4166	+	T	T			Missense_Mutation	1189			Potential.			
TNRC6C	57690	broad.mit.edu	GRCh37	17	76089149	76089149	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0157-01	TCGA-06-0157-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335749.4:c.4097G>A	p.Arg1366His	p.R1366H	ENST00000335749	NM_001142640.1	1366	cGt/cAt	0			1			A	R/H	uc002jud.2	protein_coding		CCDS45798.1			4106/5073									ovary(1)|central_nervous_system(1)	2	c.(4105-4107)CGT>CAT			hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF9	trinucleotide repeat containing 6C isoform 2				ENSP00000301624		15/20	4.96E-05	0.000102	8.70E-05			4.50E-05		6.08E-05	rs781193694,COSM2150068,COSM2150067	15/20	.		ENST00000301624	Transcript			gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	ENSG00000078687	g.chr17:76089149G>A	29318			MODERATE		1.65	low	getma.org/?cm=msa&ty=f&p=TNR6C_HUMAN&rb=1252&re=1451&var=R1369H	NA	getma.org/?cm=var&var=hg19,17,76089149,G,A&fts=all	R1369H	--	--	1																																		TNRC6C_uc002juf.2_Missense_Mutation_p.R1366H	0,1,1			possibly_damaging(0.841)	p.R1369H	NM_018996	NP_061869		deleterious(0)	0,1,1	TNR6C_HUMAN	TNRC6C	HGNC	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		K7ELY5_HUMAN,K7EKN9_HUMAN		16	4706	+			UPI00001B5D28	1369					SNV	TNRC6C,missense_variant,p.Arg1366His,ENST00000335749,NM_001142640.1;TNRC6C,missense_variant,p.Arg1369His,ENST00000301624,NM_018996.3;TNRC6C,missense_variant,p.Arg1366His,ENST00000588847,;TNRC6C,missense_variant,p.Arg1369His,ENST00000588061,;TNRC6C,missense_variant,p.Arg1369His,ENST00000541771,;TNRC6C,missense_variant,p.Arg1366His,ENST00000544502,;TNRC6C,non_coding_transcript_exon_variant,,ENST00000592251,;	uc002jud.2	c.4106G>A	4675/9632	2	2			c.4106G>A						17	SNP	c.(4105-4107)CGT>CAT	48	48			ovary(1)|central_nervous_system(1)	2	Broad	trinucleotide repeat containing 6C isoform 2			76089149		0.502	ENSG00000078687	16092	g.chr17:76089149G>A	gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding							64.928452	KEEP	17	10	-1	16	29	17	10	-1	65.827496	16	29	0.370968	1	0	0	0	0	1	0	0	0	--	--		0	A			TNRC6C_uc002juf.2_Missense_Mutation_p.R1366H	28	GBM-06-0157-TP	p.R1369H	G	AGCTGGTCACGTGCCAAATCT	NM_018996	NP_061869	76089149	Q9HCJ0	TNR6C_HUMAN	0	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		16	4706	+	A	A			Missense_Mutation	1369						
TNRC6C	0	broad.mit.edu	GRCh37	17	76083173	76083173	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T			TCGA-28-5204-01	TCGA-28-5204-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301624.4:c.3801C>T	p.Leu1267=	p.L1267=	ENST00000301624	NM_018996.3	1267	ctC/ctT	0			1			T	L	uc002jud.2	protein_coding		CCDS45798.1			3801/5073									ovary(1)|central_nervous_system(1)	2	c.(3799-3801)CTC>CTT			hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF9	trinucleotide repeat containing 6C isoform 2				ENSP00000301624		13/20	2.48E-05		8.64E-05	0.000116				6.16E-05	rs748706744,COSM2745423,COSM2745422	13/20	.		ENST00000301624	Transcript			gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	ENSG00000078687	g.chr17:76083173C>T	29318			LOW								--	--	1																																		TNRC6C_uc002juf.2_Silent_p.L1264L	0,1,1				p.L1267L	NM_018996	NP_061869			0,1,1	TNR6C_HUMAN	TNRC6C	HGNC	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		K7ELY5_HUMAN,K7EKN9_HUMAN		14	4401	+			UPI00001B5D28	1267					SNV	TNRC6C,splice_region_variant,p.=,ENST00000335749,NM_001142640.1;TNRC6C,splice_region_variant,p.=,ENST00000301624,NM_018996.3;TNRC6C,splice_region_variant,p.=,ENST00000588847,;TNRC6C,splice_region_variant,p.=,ENST00000588061,;TNRC6C,splice_region_variant,p.=,ENST00000541771,;TNRC6C,splice_region_variant,p.=,ENST00000544502,;TNRC6C,upstream_gene_variant,,ENST00000592251,;	uc002jud.2	c.3801C>T	4370/9632	2	2			c.3801C>T						17	SNP	c.(3799-3801)CTC>CTT	25	25			ovary(1)|central_nervous_system(1)	2	Broad	trinucleotide repeat containing 6C isoform 2			76083173		0.572	ENSG00000078687	16092	g.chr17:76083173C>T	gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding							200.989835	KEEP	36	37	-1	45	34	36	37	-1	201.014506	45	34	0.486301	1	0	0	0	0	0	0	1	0	--	--		0	T			TNRC6C_uc002juf.2_Silent_p.L1264L	215	GBM-28-5204-TP	p.L1267L	C	CTTACCCTCTCGGTGAGTGTC	NM_018996	NP_061869	76083173	Q9HCJ0	TNR6C_HUMAN	0	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		14	4401	+	T	T			Silent	1267						
TNS1	7145	broad.mit.edu	GRCh37	2	218712554	218712554	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0188-01	TCGA-06-0188-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000171887.4:c.2311C>T	p.His771Tyr	p.H771Y	ENST00000171887	NM_022648.4	771	Cat/Tat	0			1			A	H/Y	uc002vgt.2	protein_coding	YES	CCDS2407.1			2311/5208									ovary(3)|breast(1)	4	c.(2311-2313)CAT>TAT			hmmpanther:PTHR12305,hmmpanther:PTHR12305:SF40	tensin				ENSP00000171887		17/33									COSM2150574	17/33	.		ENST00000171887	Transcript				cytoplasm|cytoskeleton|focal adhesion	actin binding	ENSG00000079308	g.chr2:218712554G>A	11973			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=TENS1_HUMAN&rb=707&re=906&var=H771Y	NA	getma.org/?cm=var&var=hg19,2,218712554,G,A&fts=all	H771Y	--	--	1																																		TNS1_uc002vgr.2_Missense_Mutation_p.H771Y|TNS1_uc002vgs.2_Missense_Mutation_p.H771Y|TNS1_uc010zjv.1_Missense_Mutation_p.H771Y|TNS1_uc010fvj.1_Missense_Mutation_p.H839Y|TNS1_uc010fvk.1_Missense_Mutation_p.H896Y|TNS1_uc010fvi.1_Missense_Mutation_p.H458Y	1	1		benign(0.136)	p.H771Y	NM_022648	NP_072174		tolerated(0.62)	1	TENS1_HUMAN	TNS1	HGNC	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	Q9UFN8_HUMAN,Q9H757_HUMAN,C9JZT0_HUMAN,C9JI43_HUMAN,C9JFT7_HUMAN		17	2709	-		Renal(207;0.0483)|Lung NSC(271;0.213)	UPI0000456EEB	771					SNV	TNS1,missense_variant,p.His771Tyr,ENST00000171887,NM_022648.4;TNS1,missense_variant,p.His771Tyr,ENST00000419504,;TNS1,missense_variant,p.His771Tyr,ENST00000430930,;TNS1,downstream_gene_variant,,ENST00000446903,;TNS1,downstream_gene_variant,,ENST00000413554,;TNS1,downstream_gene_variant,,ENST00000480665,;TNS1,downstream_gene_variant,,ENST00000479185,;	uc002vgt.2	c.2311C>T	2764/10331	1	1			c.2311C>T						2	SNP	c.(2311-2313)CAT>TAT	53	53			ovary(3)|breast(1)	4	Broad	tensin			218712554		0.607	ENSG00000079308	16093	g.chr2:218712554G>A		cytoplasm|cytoskeleton|focal adhesion	actin binding							76.268836	KEEP	19	12	-1	26	20	19	12	-1	76.785949	26	20	0.408451	1	0	0	0	0	1	0	0	0	--	--		0	A			TNS1_uc002vgr.2_Missense_Mutation_p.H771Y|TNS1_uc002vgs.2_Missense_Mutation_p.H771Y|TNS1_uc010zjv.1_Missense_Mutation_p.H771Y|TNS1_uc010fvj.1_Missense_Mutation_p.H839Y|TNS1_uc010fvk.1_Missense_Mutation_p.H896Y|TNS1_uc010fvi.1_Missense_Mutation_p.H458Y	41	GBM-06-0188-TP	p.H771Y	G	CCCAACGAATGCCCACTGGGG	NM_022648	NP_072174	218712554	Q9HBL0	TENS1_HUMAN	0		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	17	2709	-	A	A		Renal(207;0.0483)|Lung NSC(271;0.213)	Missense_Mutation	771						
TNS1	7145	broad.mit.edu	GRCh37	2	218749762	218749762	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-1804-01	TCGA-06-1804-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000171887.4:c.867C>A	p.Phe289Leu	p.F289L	ENST00000171887	NM_022648.4	289	ttC/ttA	0			1			T	F/L	uc002vgt.2	protein_coding	YES	CCDS2407.1			867/5208									ovary(3)|breast(1)	4	c.(865-867)TTC>TTA			PROSITE_profiles:PS51182,hmmpanther:PTHR12305,hmmpanther:PTHR12305:SF40,Gene3D:1d5rA02,Pfam_domain:PF10409,Superfamily_domains:SSF49562	tensin				ENSP00000171887		14/33									COSM2152461,COSM2152462	14/33	.		ENST00000171887	Transcript				cytoplasm|cytoskeleton|focal adhesion	actin binding	ENSG00000079308	g.chr2:218749762G>T	11973			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=TENS1_HUMAN&rb=179&re=306&var=F289L	NA	getma.org/?cm=var&var=hg19,2,218749762,G,T&fts=all	F289L	--	--	1																																		TNS1_uc002vgr.2_Missense_Mutation_p.F289L|TNS1_uc002vgs.2_Missense_Mutation_p.F289L|TNS1_uc010zjv.1_Missense_Mutation_p.F289L|TNS1_uc010fvj.1_Missense_Mutation_p.F357L|TNS1_uc010fvk.1_Missense_Mutation_p.F414L|TNS1_uc002vgu.3_Missense_Mutation_p.F320L|TNS1_uc010fvi.1_5'UTR	1,1	1		probably_damaging(0.997)	p.F289L	NM_022648	NP_072174		deleterious(0)	1,1	TENS1_HUMAN	TNS1	HGNC	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	Q9UFN8_HUMAN,Q9H757_HUMAN,C9JZT0_HUMAN,C9JI43_HUMAN,C9JFT7_HUMAN		14	1265	-		Renal(207;0.0483)|Lung NSC(271;0.213)	UPI0000456EEB	289			C2 tensin-type.		SNV	TNS1,missense_variant,p.Phe289Leu,ENST00000171887,NM_022648.4;TNS1,missense_variant,p.Phe289Leu,ENST00000419504,;TNS1,missense_variant,p.Phe289Leu,ENST00000430930,;TNS1,missense_variant,p.Phe414Leu,ENST00000446903,;TNS1,missense_variant,p.Phe320Leu,ENST00000310858,;TNS1,missense_variant,p.Phe357Leu,ENST00000413554,;TNS1,missense_variant,p.Phe65Leu,ENST00000453356,;TNS1,non_coding_transcript_exon_variant,,ENST00000479185,;	uc002vgt.2	c.867C>A	1320/10331	2	2			c.867C>A						2	SNP	c.(865-867)TTC>TTA	43	43			ovary(3)|breast(1)	4	Broad	tensin			218749762		0.572	ENSG00000079308	16093	g.chr2:218749762G>T		cytoplasm|cytoskeleton|focal adhesion	actin binding							124.401543	KEEP	20	28	0.416666667	25	44	20	28	0.416666667	125.153433	25	44	0.409524	1	0	0	0	0	1	0	0	0	--	--		0	T			TNS1_uc002vgr.2_Missense_Mutation_p.F289L|TNS1_uc002vgs.2_Missense_Mutation_p.F289L|TNS1_uc010zjv.1_Missense_Mutation_p.F289L|TNS1_uc010fvj.1_Missense_Mutation_p.F357L|TNS1_uc010fvk.1_Missense_Mutation_p.F414L|TNS1_uc002vgu.3_Missense_Mutation_p.F320L|TNS1_uc010fvi.1_5'UTR	79	GBM-06-1804-TP	p.F289L	G	GCGCACCTTTGAAAGCATCAT	NM_022648	NP_072174	218749762	Q9HBL0	TENS1_HUMAN	0		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	14	1265	-	T	T		Renal(207;0.0483)|Lung NSC(271;0.213)	Missense_Mutation	289			C2 tensin-type.			
TNS1	0	broad.mit.edu	GRCh37	2	218713141	218713141	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs147452506		TCGA-76-4927-01	TCGA-76-4927-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000171887.4:c.1724C>T	p.Thr575Met	p.T575M	ENST00000171887	NM_022648.4	575	aCg/aTg	0	A:0.0002		1			A	T/M	uc002vgt.2	protein_coding	YES	CCDS2407.1			1724/5208									ovary(3)|breast(1)	4	c.(1723-1725)ACG>ATG			hmmpanther:PTHR12305,hmmpanther:PTHR12305:SF40	tensin			A:0	ENSP00000171887		17/33	4.12E-05	0.000101	0.000174			3.15E-05			rs147452506,COSM3407563,COSM3407564	17/33	.		ENST00000171887	Transcript				cytoplasm|cytoskeleton|focal adhesion	actin binding	ENSG00000079308	g.chr2:218713141G>A	11973			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TENS1_HUMAN&rb=507&re=706&var=T575M	NA	getma.org/?cm=var&var=hg19,2,218713141,G,A&fts=all	T575M	--	--	1																																		TNS1_uc002vgr.2_Missense_Mutation_p.T575M|TNS1_uc002vgs.2_Missense_Mutation_p.T575M|TNS1_uc010zjv.1_Missense_Mutation_p.T575M|TNS1_uc010fvj.1_Missense_Mutation_p.T643M|TNS1_uc010fvk.1_Missense_Mutation_p.T700M|TNS1_uc010fvi.1_Missense_Mutation_p.T262M	0,1,1	1		benign(0.002)	p.T575M	NM_022648	NP_072174		tolerated(0.14)	0,1,1	TENS1_HUMAN	TNS1	HGNC	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	Q9UFN8_HUMAN,Q9H757_HUMAN,C9JZT0_HUMAN,C9JI43_HUMAN,C9JFT7_HUMAN		17	2122	-		Renal(207;0.0483)|Lung NSC(271;0.213)	UPI0000456EEB	575					SNV	TNS1,missense_variant,p.Thr575Met,ENST00000171887,NM_022648.4;TNS1,missense_variant,p.Thr575Met,ENST00000419504,;TNS1,missense_variant,p.Thr575Met,ENST00000430930,;TNS1,missense_variant,p.Thr700Met,ENST00000446903,;TNS1,downstream_gene_variant,,ENST00000413554,;TNS1,downstream_gene_variant,,ENST00000480665,;TNS1,non_coding_transcript_exon_variant,,ENST00000479185,;	uc002vgt.2	c.1724C>T	2177/10331	2	2			c.1724C>T						2	SNP	c.(1723-1725)ACG>ATG	30	30			ovary(3)|breast(1)	4	Broad	tensin			218713141		0.667	ENSG00000079308	16093	g.chr2:218713141G>A		cytoplasm|cytoskeleton|focal adhesion	actin binding							-21.497033	KEEP	2	2	-1	70	67	2	2	-1	6.439903	70	67	0.033898	1	0	0	0	0	1	0	0	0	--	--		0	A			TNS1_uc002vgr.2_Missense_Mutation_p.T575M|TNS1_uc002vgs.2_Missense_Mutation_p.T575M|TNS1_uc010zjv.1_Missense_Mutation_p.T575M|TNS1_uc010fvj.1_Missense_Mutation_p.T643M|TNS1_uc010fvk.1_Missense_Mutation_p.T700M|TNS1_uc010fvi.1_Missense_Mutation_p.T262M	267	GBM-76-4927-TP	p.T575M	G	CATGGGGGCCGTGTGGCCAGC	NM_022648	NP_072174	218713141	Q9HBL0	TENS1_HUMAN	0		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	17	2122	-	A	A		Renal(207;0.0483)|Lung NSC(271;0.213)	Missense_Mutation	575						
TNS3	64759	broad.mit.edu	GRCh37	7	47440469	47440469	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01	TCGA-06-2564-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398879.1:c.766G>A	p.Val256Ile	p.V256I	ENST00000398879		256	Gtc/Atc	0	T:0.0002	T:0	1	T:0.0014		T	V/I	uc003tnv.2	protein_coding		CCDS5506.2			766/4338									ovary(4)	4	c.(766-768)GTC>ATC			Gene3D:1d5rA02,Pfam_domain:PF10409,PROSITE_profiles:PS51182,hmmpanther:PTHR12305,hmmpanther:PTHR12305:SF41,Superfamily_domains:SSF49562	tensin 3		T:0	T:0	ENSP00000312143	T:0	14/31	4.13E-05		0.000346			1.50E-05			rs183514866,COSM2152974	14/31	.		ENST00000311160	Transcript		T:0.0002		focal adhesion	protein binding	ENSG00000136205	g.chr7:47440469C>T	21616			MODERATE		1.64	low	getma.org/?cm=msa&ty=f&p=TENS3_HUMAN&rb=173&re=300&var=V256I	getma.org/pdb.php?prot=TENS3_HUMAN&from=173&to=300&var=V256I	getma.org/?cm=var&var=hg19,7,47440469,C,T&fts=all	V256I	--	--	1																																		TNS3_uc003tnw.2_Missense_Mutation_p.V256I|TNS3_uc010kyo.1_3'UTR	0,1			benign(0.179)	p.V256I	NM_022748	NP_073585	T:0	deleterious(0.04)	0,1	TENS3_HUMAN	TNS3	HGNC	Q68CZ2	TENS3_HUMAN			C9JWN9_HUMAN,C9JTD0_HUMAN		14	1133	-			UPI00001AE9DA	256			C2 tensin-type.		SNV	TNS3,missense_variant,p.Val256Ile,ENST00000398879,;TNS3,missense_variant,p.Val256Ile,ENST00000311160,NM_022748.11;TNS3,missense_variant,p.Val359Ile,ENST00000457718,;TNS3,missense_variant,p.Val345Ile,ENST00000450444,;TNS3,intron_variant,,ENST00000355730,;TNS3,downstream_gene_variant,,ENST00000442536,;TNS3,downstream_gene_variant,,ENST00000458317,;TNS3,non_coding_transcript_exon_variant,,ENST00000469470,;TNS3,upstream_gene_variant,,ENST00000485555,;	uc003tnv.2	c.766G>A	1124/7618	2	2			c.766G>A						7	SNP	c.(766-768)GTC>ATC	17	17			ovary(4)	4	Broad	tensin 3			47440469		0.567	ENSG00000136205	16094	g.chr7:47440469C>T		focal adhesion	protein binding							102.847141	KEEP	22	29	-1	85	94	22	29	-1	115.918492	85	94	0.227979	1	0	0	0	0	1	0	0	0	--	--		0	T			TNS3_uc003tnw.2_Missense_Mutation_p.V256I|TNS3_uc010kyo.1_3'UTR	87	GBM-06-2564-TP	p.V256I	C	CGGAAAATGACGTCACGGGTG	NM_022748	NP_073585	47440469	Q68CZ2	TENS3_HUMAN	0			14	1133	-	T	T			Missense_Mutation	256			C2 tensin-type.			
TNS3	0	broad.mit.edu	GRCh37	7	47408183	47408183	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311160.9:c.2060C>T	p.Ser687Phe	p.S687F	ENST00000311160	NM_022748.11	687	tCc/tTc	0			1			A	S/F	uc003tnv.2	protein_coding		CCDS5506.2			2060/4338									ovary(4)	4	c.(2059-2061)TCC>TTC			hmmpanther:PTHR12305,hmmpanther:PTHR12305:SF41	tensin 3				ENSP00000312143		17/31									COSM2156107	17/31	.		ENST00000311160	Transcript				focal adhesion	protein binding	ENSG00000136205	g.chr7:47408183G>A	21616			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=TENS3_HUMAN&rb=501&re=700&var=S687F	NA	getma.org/?cm=var&var=hg19,7,47408183,G,A&fts=all	S687F	--	--	1																																		TNS3_uc003tnw.2_Missense_Mutation_p.S687F	1			benign(0.006)	p.S687F	NM_022748	NP_073585		tolerated(0.71)	1	TENS3_HUMAN	TNS3	HGNC	Q68CZ2	TENS3_HUMAN			C9JWN9_HUMAN,C9JTD0_HUMAN		17	2427	-			UPI00001AE9DA	687					SNV	TNS3,missense_variant,p.Ser687Phe,ENST00000398879,;TNS3,missense_variant,p.Ser687Phe,ENST00000311160,NM_022748.11;TNS3,missense_variant,p.Ser447Phe,ENST00000355730,;TNS3,missense_variant,p.Ser790Phe,ENST00000457718,;TNS3,downstream_gene_variant,,ENST00000450444,;TNS3,downstream_gene_variant,,ENST00000469470,;	uc003tnv.2	c.2060C>T	2418/7618	2	2			c.2060C>T						7	SNP	c.(2059-2061)TCC>TTC	39	39			ovary(4)	4	Broad	tensin 3			47408183		0.622	ENSG00000136205	16094	g.chr7:47408183G>A		focal adhesion	protein binding							289.993644	KEEP	72	88	-1	216	319	72	88	-1	332.892312	216	319	0.215652	1	0	0	0	0	1	0	0	0	--	--		0	A			TNS3_uc003tnw.2_Missense_Mutation_p.S687F	160	GBM-19-1790-TP	p.S687F	G	CGAGCCTGGGGAGGGGCCTGT	NM_022748	NP_073585	47408183	Q68CZ2	TENS3_HUMAN	0			17	2427	-	A	A			Missense_Mutation	687						
TNXB	0	broad.mit.edu	GRCh37	6	32012858	32012858	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6282-01	TCGA-76-6282-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000451343.1:c.139A>G	p.Thr47Ala	p.T47A	ENST00000451343	NM_032470.3	47	Acc/Gcc	0			1			C	T/A	uc003nzl.2	protein_coding	YES	CCDS4736.1			139/2022										0	c.(10846-10848)ACC>GCC			Superfamily_domains:SSF49265,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR19143:SF190,hmmpanther:PTHR19143,PROSITE_profiles:PS50853	tenascin XB isoform 1 precursor				ENSP00000407685		13-Jan									COSM3410967,COSM3410969,COSM3410968	13-Jan	.		ENST00000451343	Transcript	1		actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	ENSG00000168477	g.chr6:32012858T>C	11976			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=TENXA_HUMAN&rb=45&re=125&var=T106A	getma.org/pdb.php?prot=TENXA_HUMAN&from=45&to=125&var=T106A	getma.org/?cm=var&var=hg19,6,32012858,T,C&fts=all	T106A	--	--	1																																		TNXB_uc003nzg.1_Missense_Mutation_p.T47A|TNXB_uc003nzh.1_Missense_Mutation_p.T85A	1,1,1	1		probably_damaging(0.997)	p.T3616A	NM_019105	NP_061978		tolerated(0.05)	1,1,1	TENX_HUMAN	TNXB	HGNC	P22105	TENX_HUMAN			B6RHJ5_HUMAN		32	11048	-			UPI0000000E8E	3663			Fibronectin type-III 28.		SNV	TNXB,missense_variant,p.Thr3618Ala,ENST00000375244,;TNXB,missense_variant,p.Thr3616Ala,ENST00000375247,NM_019105.6;TNXB,missense_variant,p.Thr47Ala,ENST00000451343,NM_032470.3;CYP21A2,downstream_gene_variant,,ENST00000418967,NM_000500.7;CYP21A2,downstream_gene_variant,,ENST00000435122,NM_001128590.3;TNXB,non_coding_transcript_exon_variant,,ENST00000490077,;CYP21A2,downstream_gene_variant,,ENST00000479074,;CYP21A2,downstream_gene_variant,,ENST00000479730,;CYP21A2,downstream_gene_variant,,ENST00000486063,;CYP21A2,downstream_gene_variant,,ENST00000483041,;TNXB,upstream_gene_variant,,ENST00000498094,;	uc003nzl.2	c.10846A>G	1048/3125	4	4			c.10846A>G						6	SNP	c.(10846-10848)ACC>GCC	47	47				0	Broad	tenascin XB isoform 1 precursor			32012858		0.642	ENSG00000168477	16096	g.chr6:32012858T>C	actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding							8.38985	KEEP	3	1	-1	12	9	3	1	-1	10.695749	12	9	0.173913	1	0	0	0	0	1	0	0	0	--	--		0	C			TNXB_uc003nzg.1_Missense_Mutation_p.T47A|TNXB_uc003nzh.1_Missense_Mutation_p.T85A	278	GBM-76-6282-TP	p.T3616A	T	CTGTAGGGGGTGCTGGGCTCC	NM_019105	NP_061978	32012858	P22105	TENX_HUMAN	0			32	11048	-	C	C			Missense_Mutation	3663			Fibronectin type-III 28.			
TOE1	114034	broad.mit.edu	GRCh37	1	45808763	45808764	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0174-01	TCGA-06-0174-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372090.5:c.924dup	p.Cys309ValfsTer14	p.C309Vfs*14	ENST00000372090	NM_025077.3	308	tgg/tGgg	0			1			G	W/WX	uc009vxq.2	protein_coding	YES	CCDS521.1			922-923/1533									central_nervous_system(1)	1	c.(922-924)TGGfs			Pfam_domain:PF00642,Pfam_domain:PF04857,PROSITE_profiles:PS50103,hmmpanther:PTHR15092,hmmpanther:PTHR15092:SF24,Superfamily_domains:SSF53098	target of EGR1, member 1 (nuclear)				ENSP00000361162		8-Aug	5.77E-05	9.70E-05	8.64E-05	0.000116	0.000304	3.01E-05			rs759002572	8-Aug	.		ENST00000372090	Transcript				nuclear speck|nucleolus	nucleic acid binding|zinc ion binding	ENSG00000132773	g.chr1:45808763_45808764insG	15954	2		HIGH								--	--	1																																		MUTYH_uc001cnj.2_5'Flank|MUTYH_uc001cni.2_5'Flank|MUTYH_uc001cnh.2_5'Flank|MUTYH_uc001cno.2_5'Flank|MUTYH_uc001cnk.2_5'Flank|MUTYH_uc010oll.1_5'Flank|MUTYH_uc001cnm.2_5'Flank|MUTYH_uc001cnl.2_5'Flank|MUTYH_uc009vxp.2_5'Flank|MUTYH_uc001cnn.2_5'Flank|TOE1_uc001cnq.3_RNA|TOE1_uc010olm.1_Frame_Shift_Ins_p.W228fs|TOE1_uc001cnr.3_RNA		1			p.W308fs	NM_025077	NP_079353				TOE1_HUMAN	TOE1	HGNC	Q96GM8	TOE1_HUMAN			B3KSC7_HUMAN		8	1505_1506	+	Acute lymphoblastic leukemia(166;0.155)		UPI00000382DE	308			C3H1-type.		insertion	TOE1,frameshift_variant,p.Cys309ValfsTer14,ENST00000372090,NM_025077.3;TOE1,frameshift_variant,p.Cys229ValfsTer14,ENST00000539779,;TESK2,downstream_gene_variant,,ENST00000372086,NM_007170.2;TESK2,downstream_gene_variant,,ENST00000341771,;TESK2,downstream_gene_variant,,ENST00000372084,;TESK2,downstream_gene_variant,,ENST00000538496,;MUTYH,upstream_gene_variant,,ENST00000450313,NM_012222.2,NM_001128425.1;MUTYH,upstream_gene_variant,,ENST00000372115,NM_001048171.1;MUTYH,upstream_gene_variant,,ENST00000372098,;MUTYH,upstream_gene_variant,,ENST00000372104,;MUTYH,upstream_gene_variant,,ENST00000372110,;MUTYH,upstream_gene_variant,,ENST00000372100,;MUTYH,upstream_gene_variant,,ENST00000355498,NM_001048172.1,NM_001048173.1;MUTYH,upstream_gene_variant,,ENST00000354383,;MUTYH,upstream_gene_variant,,ENST00000448481,;MUTYH,upstream_gene_variant,,ENST00000456914,NM_001048174.1;MUTYH,upstream_gene_variant,,ENST00000528013,;MUTYH,upstream_gene_variant,,ENST00000529984,;MUTYH,upstream_gene_variant,,ENST00000528332,;MUTYH,upstream_gene_variant,,ENST00000435155,;MUTYH,upstream_gene_variant,,ENST00000483127,;MUTYH,upstream_gene_variant,,ENST00000412971,;MUTYH,upstream_gene_variant,,ENST00000488731,;MUTYH,upstream_gene_variant,,ENST00000531105,;TOE1,non_coding_transcript_exon_variant,,ENST00000495703,;TESK2,downstream_gene_variant,,ENST00000486676,;TOE1,downstream_gene_variant,,ENST00000471337,;TOE1,downstream_gene_variant,,ENST00000477731,;TOE1,downstream_gene_variant,,ENST00000460057,;MUTYH,upstream_gene_variant,,ENST00000481571,;MUTYH,upstream_gene_variant,,ENST00000475516,;MUTYH,upstream_gene_variant,,ENST00000483642,;MUTYH,upstream_gene_variant,,ENST00000481139,;MUTYH,upstream_gene_variant,,ENST00000492494,;MUTYH,upstream_gene_variant,,ENST00000467940,;MUTYH,upstream_gene_variant,,ENST00000479746,;MUTYH,upstream_gene_variant,,ENST00000461495,;MUTYH,upstream_gene_variant,,ENST00000476789,;MUTYH,upstream_gene_variant,,ENST00000470256,;MUTYH,upstream_gene_variant,,ENST00000462387,;MUTYH,upstream_gene_variant,,ENST00000485484,;MUTYH,upstream_gene_variant,,ENST00000534453,;MUTYH,upstream_gene_variant,,ENST00000525160,;MUTYH,upstream_gene_variant,,ENST00000474703,;	uc009vxq.2	c.922_923insG	1505-1506/2389	5	5			c.922_923insG						1	INS	c.(922-924)TGGfs	8	8			central_nervous_system(1)	1	Broad	target of EGR1, member 1 (nuclear)			45808764		0.569	ENSG00000132773	16099	g.chr1:45808763_45808764insG		nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			28			28														0.02	1	0	0	1	1	0	0	0	0	--	--		0	G			MUTYH_uc001cnj.2_5'Flank|MUTYH_uc001cni.2_5'Flank|MUTYH_uc001cnh.2_5'Flank|MUTYH_uc001cno.2_5'Flank|MUTYH_uc001cnk.2_5'Flank|MUTYH_uc010oll.1_5'Flank|MUTYH_uc001cnm.2_5'Flank|MUTYH_uc001cnl.2_5'Flank|MUTYH_uc009vxp.2_5'Flank|MUTYH_uc001cnn.2_5'Flank|TOE1_uc001cnq.3_RNA|TOE1_uc010olm.1_Frame_Shift_Ins_p.W228fs|TOE1_uc001cnr.3_RNA	37	GBM-06-0174-TP	p.W308fs	-	GGCTTATGGCTGGTGCCCCCTG	NM_025077	NP_079353	45808763	Q96GM8	TOE1_HUMAN	0			8	1505_1506	+	G	G	Acute lymphoblastic leukemia(166;0.155)		Frame_Shift_Ins	308			C3H1-type.			
TOE1	0	broad.mit.edu	GRCh37	1	45807217	45807217	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-76-4925-01	TCGA-76-4925-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372090.5:c.309C>G	p.Ala103=	p.A103=	ENST00000372090	NM_025077.3	103	gcC/gcG	0			1			G	A	uc009vxq.2	protein_coding	YES	CCDS521.1			309/1533									central_nervous_system(1)	1	c.(307-309)GCC>GCG			Gene3D:3.30.420.10,Pfam_domain:PF04857,hmmpanther:PTHR15092,hmmpanther:PTHR15092:SF24,Superfamily_domains:SSF53098	target of EGR1, member 1 (nuclear)				ENSP00000361162		8-Apr									COSM2157452	8-Apr	.		ENST00000372090	Transcript				nuclear speck|nucleolus	nucleic acid binding|zinc ion binding	ENSG00000132773	g.chr1:45807217C>G	15954			LOW								--	--	1																																		MUTYH_uc001cnf.2_5'Flank|MUTYH_uc009vxo.2_5'Flank|MUTYH_uc001cng.2_5'Flank|MUTYH_uc001cnj.2_5'Flank|MUTYH_uc001cni.2_5'Flank|MUTYH_uc001cnh.2_5'Flank|MUTYH_uc001cno.2_5'Flank|MUTYH_uc001cnk.2_5'Flank|MUTYH_uc010oll.1_5'Flank|MUTYH_uc001cnm.2_5'Flank|MUTYH_uc001cnl.2_5'Flank|MUTYH_uc009vxp.2_5'Flank|MUTYH_uc001cnn.2_5'Flank|TOE1_uc001cnq.3_RNA|TOE1_uc010olm.1_Intron|TOE1_uc010oln.1_Silent_p.A109A|TOE1_uc001cnr.3_RNA	1	1			p.A103A	NM_025077	NP_079353			1	TOE1_HUMAN	TOE1	HGNC	Q96GM8	TOE1_HUMAN			B3KSC7_HUMAN		4	892	+	Acute lymphoblastic leukemia(166;0.155)		UPI00000382DE	103					SNV	TOE1,synonymous_variant,p.=,ENST00000372090,NM_025077.3;TOE1,intron_variant,,ENST00000539779,;TESK2,downstream_gene_variant,,ENST00000372086,NM_007170.2;TESK2,downstream_gene_variant,,ENST00000341771,;TESK2,downstream_gene_variant,,ENST00000372084,;TESK2,downstream_gene_variant,,ENST00000538496,;MUTYH,upstream_gene_variant,,ENST00000450313,NM_012222.2,NM_001128425.1;MUTYH,upstream_gene_variant,,ENST00000372115,NM_001048171.1;MUTYH,upstream_gene_variant,,ENST00000372098,;MUTYH,upstream_gene_variant,,ENST00000372104,;MUTYH,upstream_gene_variant,,ENST00000372110,;MUTYH,upstream_gene_variant,,ENST00000372100,;MUTYH,upstream_gene_variant,,ENST00000355498,NM_001048172.1,NM_001048173.1;MUTYH,upstream_gene_variant,,ENST00000354383,;MUTYH,upstream_gene_variant,,ENST00000448481,;MUTYH,upstream_gene_variant,,ENST00000456914,NM_001048174.1;MUTYH,upstream_gene_variant,,ENST00000528013,;MUTYH,upstream_gene_variant,,ENST00000528332,;MUTYH,upstream_gene_variant,,ENST00000529984,;MUTYH,upstream_gene_variant,,ENST00000435155,;MUTYH,upstream_gene_variant,,ENST00000483127,;MUTYH,upstream_gene_variant,,ENST00000412971,;MUTYH,upstream_gene_variant,,ENST00000488731,;MUTYH,upstream_gene_variant,,ENST00000531105,;TOE1,non_coding_transcript_exon_variant,,ENST00000495703,;TOE1,non_coding_transcript_exon_variant,,ENST00000471337,;TOE1,non_coding_transcript_exon_variant,,ENST00000477731,;TOE1,intron_variant,,ENST00000460057,;TESK2,downstream_gene_variant,,ENST00000486676,;MUTYH,upstream_gene_variant,,ENST00000481571,;MUTYH,upstream_gene_variant,,ENST00000475516,;MUTYH,upstream_gene_variant,,ENST00000483642,;MUTYH,upstream_gene_variant,,ENST00000481139,;MUTYH,upstream_gene_variant,,ENST00000492494,;MUTYH,upstream_gene_variant,,ENST00000467940,;MUTYH,upstream_gene_variant,,ENST00000479746,;MUTYH,upstream_gene_variant,,ENST00000461495,;MUTYH,upstream_gene_variant,,ENST00000476789,;MUTYH,upstream_gene_variant,,ENST00000470256,;MUTYH,upstream_gene_variant,,ENST00000462387,;MUTYH,upstream_gene_variant,,ENST00000485484,;MUTYH,upstream_gene_variant,,ENST00000534453,;MUTYH,upstream_gene_variant,,ENST00000525160,;MUTYH,upstream_gene_variant,,ENST00000474703,;	uc009vxq.2	c.309C>G	892/2389	4	4			c.309C>G						1	SNP	c.(307-309)GCC>GCG	22	22			central_nervous_system(1)	1	Broad	target of EGR1, member 1 (nuclear)			45807217		0.562	ENSG00000132773	16099	g.chr1:45807217C>G		nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			28			28	96.737698	KEEP	12	20	-1	20	26	12	20	-1	96.89754	20	26	0.447761	1	0	0	0	0	0	0	1	0	--	--		0	G			MUTYH_uc001cnf.2_5'Flank|MUTYH_uc009vxo.2_5'Flank|MUTYH_uc001cng.2_5'Flank|MUTYH_uc001cnj.2_5'Flank|MUTYH_uc001cni.2_5'Flank|MUTYH_uc001cnh.2_5'Flank|MUTYH_uc001cno.2_5'Flank|MUTYH_uc001cnk.2_5'Flank|MUTYH_uc010oll.1_5'Flank|MUTYH_uc001cnm.2_5'Flank|MUTYH_uc001cnl.2_5'Flank|MUTYH_uc009vxp.2_5'Flank|MUTYH_uc001cnn.2_5'Flank|TOE1_uc001cnq.3_RNA|TOE1_uc010olm.1_Intron|TOE1_uc010oln.1_Silent_p.A109A|TOE1_uc001cnr.3_RNA	265	GBM-76-4925-TP	p.A103A	C	TGGGCCTCGCCTGCTTCAAGC	NM_025077	NP_079353	45807217	Q96GM8	TOE1_HUMAN	0			4	892	+	G	G	Acute lymphoblastic leukemia(166;0.155)		Silent	103						
TOMM40L	84134	broad.mit.edu	GRCh37	1	161198259	161198259	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01	TCGA-06-0192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367988.3:c.649G>A	p.Ala217Thr	p.A217T	ENST00000367988	NM_032174.4	217	Gcc/Acc	0			1			A	A/T	uc001fzd.2	protein_coding		CCDS1227.1			649/927									large_intestine(1)	1	c.(649-651)GCC>ACC			Gene3D:2.40.160.10,Pfam_domain:PF01459,hmmpanther:PTHR10802,hmmpanther:PTHR10802:SF0	translocase of outer mitochondrial membrane 40				ENSP00000356966		9-Jul									COSM3399915	9-Jul	.		ENST00000367987	Transcript			protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity	ENSG00000158882	g.chr1:161198259G>A	25756			MODERATE		1.975	medium	getma.org/?cm=msa&ty=f&p=TM40L_HUMAN&rb=26&re=302&var=A217T	NA	getma.org/?cm=var&var=hg19,1,161198259,G,A&fts=all	A217T	--	--	1																																		TOMM40L_uc010pkl.1_Missense_Mutation_p.A183T|TOMM40L_uc009wue.2_Missense_Mutation_p.A99T|TOMM40L_uc009wuf.1_RNA|TOMM40L_uc001fze.2_Missense_Mutation_p.A217T	1			probably_damaging(0.965)	p.A217T	NM_032174	NP_115550		tolerated(0.08)	1	TM40L_HUMAN	TOMM40L	HGNC	Q969M1	TM40L_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)				8	878	+	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		UPI000006F917	217					SNV	TOMM40L,missense_variant,p.Ala217Thr,ENST00000367988,NM_032174.4;TOMM40L,missense_variant,p.Ala217Thr,ENST00000367987,;TOMM40L,missense_variant,p.Ala183Thr,ENST00000545897,NM_001286373.1;NR1I3,downstream_gene_variant,,ENST00000367983,;NR1I3,downstream_gene_variant,,ENST00000506209,;NR1I3,downstream_gene_variant,,ENST00000367980,NM_001077481.2,NM_001077469.2,NM_005122.4,NM_001077478.2,NM_001077480.2,NM_001077482.2;NR1I3,downstream_gene_variant,,ENST00000367982,;NR1I3,downstream_gene_variant,,ENST00000515621,;NR1I3,downstream_gene_variant,,ENST00000428574,;NR1I3,downstream_gene_variant,,ENST00000442691,;NR1I3,downstream_gene_variant,,ENST00000515452,;NR1I3,downstream_gene_variant,,ENST00000367981,NM_001077472.2;NR1I3,downstream_gene_variant,,ENST00000367979,;NR1I3,downstream_gene_variant,,ENST00000367985,;NR1I3,downstream_gene_variant,,ENST00000511676,NM_001077479.2;NR1I3,downstream_gene_variant,,ENST00000367984,NM_001077471.2;NR1I3,downstream_gene_variant,,ENST00000412844,NM_001077473.2;NR1I3,downstream_gene_variant,,ENST00000505005,NM_001077474.2;NR1I3,downstream_gene_variant,,ENST00000508740,NM_001077476.2;NR1I3,downstream_gene_variant,,ENST00000437437,NM_001077477.2;NR1I3,downstream_gene_variant,,ENST00000504010,NM_001077470.2;NR1I3,downstream_gene_variant,,ENST00000512372,NM_001077475.2;NR1I3,downstream_gene_variant,,ENST00000502985,;NR1I3,downstream_gene_variant,,ENST00000508387,;NR1I3,downstream_gene_variant,,ENST00000511944,;APOA2,upstream_gene_variant,,ENST00000464492,;NR1I3,downstream_gene_variant,,ENST00000511748,;APOA2,upstream_gene_variant,,ENST00000367990,NM_001643.1;APOA2,upstream_gene_variant,,ENST00000463273,;APOA2,upstream_gene_variant,,ENST00000468465,;APOA2,upstream_gene_variant,,ENST00000470459,;APOA2,upstream_gene_variant,,ENST00000463812,;APOA2,upstream_gene_variant,,ENST00000469730,;MIR5187,downstream_gene_variant,,ENST00000583479,;TOMM40L,non_coding_transcript_exon_variant,,ENST00000474486,;TOMM40L,non_coding_transcript_exon_variant,,ENST00000492482,;TOMM40L,non_coding_transcript_exon_variant,,ENST00000470426,;TOMM40L,non_coding_transcript_exon_variant,,ENST00000475793,;TOMM40L,non_coding_transcript_exon_variant,,ENST00000468803,;NR1I3,downstream_gene_variant,,ENST00000479324,;TOMM40L,downstream_gene_variant,,ENST00000465512,;NR1I3,downstream_gene_variant,,ENST00000488651,;NR1I3,downstream_gene_variant,,ENST00000503547,;NR1I3,downstream_gene_variant,,ENST00000464422,;NR1I3,downstream_gene_variant,,ENST00000506018,;APOA2,upstream_gene_variant,,ENST00000481413,;NR1I3,downstream_gene_variant,,ENST00000502848,;NR1I3,downstream_gene_variant,,ENST00000512340,;NR1I3,downstream_gene_variant,,ENST00000505944,;NR1I3,downstream_gene_variant,,ENST00000510951,;NR1I3,downstream_gene_variant,,ENST00000507215,;	uc001fzd.2	c.649G>A	835/2636	2	2			c.649G>A						1	SNP	c.(649-651)GCC>ACC	33	33			large_intestine(1)	1	Broad	translocase of outer mitochondrial membrane 40			161198259		0.488	ENSG00000158882	16109	g.chr1:161198259G>A	protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity							24.594203	KEEP	8	6	-1	53	39	8	6	-1	33.673285	53	39	0.164706	1	0	0	0	0	1	0	0	0	--	--		0	A			TOMM40L_uc010pkl.1_Missense_Mutation_p.A183T|TOMM40L_uc009wue.2_Missense_Mutation_p.A99T|TOMM40L_uc009wuf.1_RNA|TOMM40L_uc001fze.2_Missense_Mutation_p.A217T	44	GBM-06-0192-TP	p.A217T	G	ATCAGGCGGGGCCCATGCAAG	NM_032174	NP_115550	161198259	Q969M1	TM40L_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.00376)		8	878	+	A	A	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		Missense_Mutation	217						
TOMM40L	0	broad.mit.edu	GRCh37	1	161197734	161197734	+	missense_variant	Missense_Mutation	SNP	A	A	C	rs146096318	by1000genomes	TCGA-76-6192-01	TCGA-76-6192-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367987.1:c.439A>C	p.Thr147Pro	p.T147P	ENST00000367987		147	Aca/Cca	0			1			C	T/P	uc001fzd.2	protein_coding		CCDS1227.1			439/927									large_intestine(1)	1	c.(439-441)ACA>CCA			Gene3D:2.40.160.10,Pfam_domain:PF01459,hmmpanther:PTHR10802,hmmpanther:PTHR10802:SF0	translocase of outer mitochondrial membrane 40				ENSP00000356966		9-May	0.0176	0.0337	0.00366	0.00489	0.0509	0.0199	0.0314	0.000424	rs79389182,COSM3747802	9-May	common_variant		ENST00000367987	Transcript			protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity	ENSG00000158882	g.chr1:161197734A>C	25756			MODERATE		2.74	medium	getma.org/?cm=msa&ty=f&p=TM40L_HUMAN&rb=26&re=302&var=T147P	NA	getma.org/?cm=var&var=hg19,1,161197734,A,C&fts=all	T147P	--	--	1																																OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	TOMM40L_uc010pkk.1_RNA|TOMM40L_uc010pkl.1_Missense_Mutation_p.T113P|TOMM40L_uc009wue.2_Missense_Mutation_p.T29P|TOMM40L_uc009wuf.1_RNA|TOMM40L_uc001fze.2_Missense_Mutation_p.T147P	0,1			probably_damaging(0.99)	p.T147P	NM_032174	NP_115550		deleterious(0)	0,1	TM40L_HUMAN	TOMM40L	HGNC	Q969M1	TM40L_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)				6	668	+	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		UPI000006F917	147					SNV	TOMM40L,missense_variant,p.Thr147Pro,ENST00000367988,NM_032174.4;TOMM40L,missense_variant,p.Thr147Pro,ENST00000367987,;TOMM40L,missense_variant,p.Thr113Pro,ENST00000545897,NM_001286373.1;NR1I3,downstream_gene_variant,,ENST00000367983,;NR1I3,downstream_gene_variant,,ENST00000506209,;NR1I3,downstream_gene_variant,,ENST00000367980,NM_001077481.2,NM_001077469.2,NM_005122.4,NM_001077478.2,NM_001077480.2,NM_001077482.2;NR1I3,downstream_gene_variant,,ENST00000367982,;NR1I3,downstream_gene_variant,,ENST00000515621,;NR1I3,downstream_gene_variant,,ENST00000428574,;NR1I3,downstream_gene_variant,,ENST00000442691,;NR1I3,downstream_gene_variant,,ENST00000515452,;NR1I3,downstream_gene_variant,,ENST00000367981,NM_001077472.2;NR1I3,downstream_gene_variant,,ENST00000367979,;NR1I3,downstream_gene_variant,,ENST00000367985,;NR1I3,downstream_gene_variant,,ENST00000511676,NM_001077479.2;NR1I3,downstream_gene_variant,,ENST00000367984,NM_001077471.2;NR1I3,downstream_gene_variant,,ENST00000412844,NM_001077473.2;NR1I3,downstream_gene_variant,,ENST00000505005,NM_001077474.2;NR1I3,downstream_gene_variant,,ENST00000508740,NM_001077476.2;NR1I3,downstream_gene_variant,,ENST00000437437,NM_001077477.2;NR1I3,downstream_gene_variant,,ENST00000504010,NM_001077470.2;NR1I3,downstream_gene_variant,,ENST00000512372,NM_001077475.2;NR1I3,downstream_gene_variant,,ENST00000502985,;NR1I3,downstream_gene_variant,,ENST00000508387,;NR1I3,downstream_gene_variant,,ENST00000511944,;APOA2,upstream_gene_variant,,ENST00000464492,;NR1I3,downstream_gene_variant,,ENST00000511748,;APOA2,upstream_gene_variant,,ENST00000367990,NM_001643.1;APOA2,upstream_gene_variant,,ENST00000463273,;APOA2,upstream_gene_variant,,ENST00000468465,;APOA2,upstream_gene_variant,,ENST00000470459,;APOA2,upstream_gene_variant,,ENST00000463812,;APOA2,upstream_gene_variant,,ENST00000469730,;APOA2,upstream_gene_variant,,ENST00000491350,;MIR5187,downstream_gene_variant,,ENST00000583479,;TOMM40L,non_coding_transcript_exon_variant,,ENST00000474486,;TOMM40L,non_coding_transcript_exon_variant,,ENST00000492482,;TOMM40L,non_coding_transcript_exon_variant,,ENST00000470426,;TOMM40L,non_coding_transcript_exon_variant,,ENST00000465512,;TOMM40L,non_coding_transcript_exon_variant,,ENST00000468803,;NR1I3,downstream_gene_variant,,ENST00000479324,;NR1I3,downstream_gene_variant,,ENST00000488651,;NR1I3,downstream_gene_variant,,ENST00000503547,;TOMM40L,upstream_gene_variant,,ENST00000475793,;NR1I3,downstream_gene_variant,,ENST00000464422,;NR1I3,downstream_gene_variant,,ENST00000506018,;APOA2,upstream_gene_variant,,ENST00000481413,;NR1I3,downstream_gene_variant,,ENST00000502848,;NR1I3,downstream_gene_variant,,ENST00000512340,;NR1I3,downstream_gene_variant,,ENST00000505944,;NR1I3,downstream_gene_variant,,ENST00000510951,;APOA2,upstream_gene_variant,,ENST00000481511,;NR1I3,downstream_gene_variant,,ENST00000507215,;	uc001fzd.2	c.439A>C	625/2636	3	3			c.439A>C						1	SNP	c.(439-441)ACA>CCA	11	11			large_intestine(1)	1	Broad	translocase of outer mitochondrial membrane 40			161197734		0.522	ENSG00000158882	16109	g.chr1:161197734A>C	protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity							4.083232	KEEP	2	5	-1	9	13	2	5	-1	6.4115	9	13	0.173913	1	0	0	0	0	1	0	0	0	--	--		0	C	OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	TOMM40L_uc010pkk.1_RNA|TOMM40L_uc010pkl.1_Missense_Mutation_p.T113P|TOMM40L_uc009wue.2_Missense_Mutation_p.T29P|TOMM40L_uc009wuf.1_RNA|TOMM40L_uc001fze.2_Missense_Mutation_p.T147P	275	GBM-76-6192-TP	p.T147P	A	AGATGACTACACAGCCACTCT	NM_032174	NP_115550	161197734	Q969M1	TM40L_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.00376)		6	668	+	C	C	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		Missense_Mutation	147						
TOMM70A	0	broad.mit.edu	GRCh37	3	100105109	100105109	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-2483-01	TCGA-02-2483-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284320.5:c.578G>A	p.Arg193His	p.R193H	ENST00000284320	NM_014820.4	193	cGt/cAt	0			1			T	R/H	uc003dtw.2	protein_coding	YES	CCDS33807.1			578/1827									ovary(1)	1	c.(577-579)CGT>CAT			Gene3D:1.25.40.10,PROSITE_profiles:PS50293,hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF178,SMART_domains:SM00028,Superfamily_domains:SSF48452	translocase of outer mitochondrial membrane 70				ENSP00000284320		12-Mar									COSM2149148	12-Mar	.		ENST00000284320	Transcript			protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	ENSG00000154174	g.chr3:100105109C>T	11985			MODERATE		2.87	medium	getma.org/?cm=msa&ty=f&p=TOM70_HUMAN&rb=187&re=364&var=R193H	NA	getma.org/?cm=var&var=hg19,3,100105109,C,T&fts=all	R193H	--	--	1																																			1	1		probably_damaging(0.943)	p.R193H	NM_014820	NP_055635		deleterious(0)	1	TOM70_HUMAN	TOMM70A	HGNC	O94826	TOM70_HUMAN			B4DZ87_HUMAN,B3KQK5_HUMAN,B3KQK0_HUMAN		3	1010	-			UPI0000000C55	193			Cytoplasmic (Potential).		SNV	TOMM70A,missense_variant,p.Arg193His,ENST00000284320,NM_014820.4;TOMM70A,upstream_gene_variant,,ENST00000492171,;	uc003dtw.2	c.578G>A	1027/4409	2	2			c.578G>A						3	SNP	c.(577-579)CGT>CAT	35	35			ovary(1)	1	Broad	translocase of outer mitochondrial membrane 70			100105109		0.323	ENSG00000154174	16112	g.chr3:100105109C>T	protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity							124.442476	KEEP	21	26	-1	60	57	21	26	-1	130.477857	60	57	0.289474	1	0	0	0	0	1	0	0	0	--	--		0	T				6	GBM-02-2483-TP	p.R193H	C	GGCTTTTGCACGTCTAAAGAG	NM_014820	NP_055635	100105109	O94826	TOM70_HUMAN	0			3	1010	-	T	T			Missense_Mutation	193			Cytoplasmic (Potential).			
TONSL	0	broad.mit.edu	GRCh37	8	145662013	145662013	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0786-01	TCGA-14-0786-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409379.3:c.1942G>A	p.Asp648Asn	p.D648N	ENST00000409379	NM_013432.4	648	Gac/Aac	0			1			T	D/N	uc011llg.1	protein_coding	YES	CCDS34968.2			1942/4137										0	c.(1942-1944)GAC>AAC			hmmpanther:PTHR24139:SF31,hmmpanther:PTHR24139,Gene3D:1.25.40.20	NF-kappa-B inhibitor-like protein 2				ENSP00000386239		16/26									COSM3412864,COSM3412863	16/26	.		ENST00000409379	Transcript			cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	ENSG00000160949	g.chr8:145662013C>T	7801			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=TONSL_HUMAN&rb=630&re=689&var=D648N	NA	getma.org/?cm=var&var=hg19,8,145662013,C,T&fts=all	D648N	--	--	1																																		uc011llh.1_Intron	1,1	1		probably_damaging(0.929)	p.D648N	NM_013432	NP_038460		deleterious(0.01)	1,1	TONSL_HUMAN	TONSL	HGNC	Q96HA7	TONSL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)				16	1957	-	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		UPI0000424A3B	648					SNV	TONSL,missense_variant,p.Asp648Asn,ENST00000409379,NM_013432.4;AC084125.4,intron_variant,,ENST00000544423,;AC084125.4,upstream_gene_variant,,ENST00000442850,;TONSL,non_coding_transcript_exon_variant,,ENST00000497613,;	uc011llg.1	c.1942G>A	1972/4502	2	2			c.1942G>A						8	SNP	c.(1942-1944)GAC>AAC	43	43				0	Broad	NF-kappa-B inhibitor-like protein 2			145662013		0.682	ENSG00000160949	10194	g.chr8:145662013C>T	cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity							72.226656	KEEP	12	22	-1	28	28	12	22	-1	73.147645	28	28	0.376812	1	0	0	0	0	1	0	0	0	--	--		0	T			uc011llh.1_Intron	134	GBM-14-0786-TP	p.D648N	C	AGGTCCAGGTCCCTGCGGTAC	NM_013432	NP_038460	145662013	Q96HA7	TONSL_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		16	1957	-	T	T	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	648						
TONSL	4796		GRCh37	8	145654644	145654644	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000409379.3:c.4019del	p.Cys1340SerfsTer53	p.C1340Sfs*53	ENST00000409379	NM_013432.4	1340	tGc/tc	0																																																																																																																																																																																																																																												
TOP1	0	broad.mit.edu	GRCh37	20	39726941	39726941	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-4068-01	TCGA-19-4068-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361337.2:c.939G>A	p.Thr313=	p.T313=	ENST00000361337	NM_003286.2	313	acG/acA	0	A:0.0002		1			A	T	uc002xjl.2	protein_coding	YES	CCDS13312.1			939/2298	T		NUP98		AML*				breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7	c.(937-939)ACG>ACA			Gene3D:1oisA01,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF02919,hmmpanther:PTHR10290,hmmpanther:PTHR10290:SF1,Superfamily_domains:SSF56741	DNA topoisomerase I	Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)		A:0	ENSP00000354522		21-Nov	2.47E-05	9.64E-05				3.00E-05			rs369208633,COSM3405074	21-Nov	.		ENST00000361337	Transcript			DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding	ENSG00000198900	g.chr20:39726941G>A	11986			LOW								--	--	1																																			0,1	1			p.T313T	NM_003286	NP_003277			0,1	TOP1_HUMAN	TOP1	HGNC	P11387	TOP1_HUMAN			Q9BVT2_HUMAN		11	1185	+		Myeloproliferative disorder(115;0.00878)	UPI000004F0B1	313					SNV	TOP1,synonymous_variant,p.=,ENST00000361337,NM_003286.2;RP1-1J6.2,downstream_gene_variant,,ENST00000454626,;	uc002xjl.2	c.939G>A	1189/3738	2	2			c.939G>A	T		NUP98		AML*	20	SNP	c.(937-939)ACG>ACA	46	46			breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7	Broad	DNA topoisomerase I		Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	39726941		0.368	ENSG00000198900	16113	g.chr20:39726941G>A	DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			252			252	-41.769872	KEEP	2	2	-1	91	120	2	2	-1	6.995841	91	120	0.021053	1	0	0	0	0	0	0	1	0	--	--		0	A				168	GBM-19-4068-TP	p.T313T	G	AAGCCCAGACGGAAGCTCGGA	NM_003286	NP_003277	39726941	P11387	TOP1_HUMAN	0			11	1185	+	A	A		Myeloproliferative disorder(115;0.00878)	Silent	313						
TOP1	0	broad.mit.edu	GRCh37	20	39704846	39704848	+	inframe_deletion	In_Frame_Del	DEL	AGG	AGG	-			TCGA-26-5132-01	TCGA-26-5132-01	AGG	AGG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361337.2:c.193_195delGAG	p.Glu65del	p.E65del	ENST00000361337	NM_003286.2	64	aAGGag/aag	0			1			-	KE/K	uc002xjl.2	protein_coding	YES	CCDS13312.1			191-193/2298	T		NUP98		AML*				breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7	c.(190-195)AAGGAG>AAG			hmmpanther:PTHR10290,hmmpanther:PTHR10290:SF1,Low_complexity_(Seg):seg	DNA topoisomerase I	Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)			ENSP00000354522		21-Apr									COSM2156927	21-Apr	.		ENST00000361337	Transcript			DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding	ENSG00000198900	g.chr20:39704846_39704848delAGG	11986	2		MODERATE								--	--	1																																		TOP1_uc010gge.1_RNA	1	1			p.E65del	NM_003286	NP_003277			1	TOP1_HUMAN	TOP1	HGNC	P11387	TOP1_HUMAN			Q9BVT2_HUMAN		4	437_439	+		Myeloproliferative disorder(115;0.00878)	UPI000004F0B1	65			Lys-rich.		deletion	TOP1,inframe_deletion,p.Glu65del,ENST00000361337,NM_003286.2;	uc002xjl.2	c.191_193delAGG	441-443/3738	5	5			c.191_193delAGG	T		NUP98		AML*	20	DEL	c.(190-195)AAGGAG>AAG	46	46			breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7	Broad	DNA topoisomerase I		Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	39704848		0.207	ENSG00000198900	16113	g.chr20:39704846_39704848delAGG	DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			252			252														0.39	1	1	0	1	0	0	0	0	0	--	--		0	-			TOP1_uc010gge.1_RNA	181	GBM-26-5132-TP	p.E65del	AGG	cacaaagagaaggagaagaccaa	NM_003286	NP_003277	39704846	P11387	TOP1_HUMAN	0			4	437_439	+	-	-		Myeloproliferative disorder(115;0.00878)	In_Frame_Del	65			Lys-rich.			
TOP3A	0	broad.mit.edu	GRCh37	17	18210245	18210246	+	frameshift_variant	Frame_Shift_Del	DEL	TC	TC	-			TCGA-14-1034-01	TCGA-14-1034-01	TC	TC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321105.5:c.349_350delGA	p.Glu117AsnfsTer2	p.E117Nfs*2	ENST00000321105	NM_004618.3	117	GAa/a	0			1			-	E/X	uc002gsx.1	protein_coding	YES	CCDS11194.1			349-350/3006									skin(3)	3	c.(349-351)GAAfs			PROSITE_profiles:PS50880,hmmpanther:PTHR11390,hmmpanther:PTHR11390:SF23,Pfam_domain:PF01751,Gene3D:3.40.50.140,SMART_domains:SM00493,Superfamily_domains:SSF56712	topoisomerase (DNA) III alpha				ENSP00000321636		19-Apr									COSM2155224	19-Apr	.		ENST00000321105	Transcript			DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	ENSG00000177302	g.chr17:18210245_18210246delTC	11992			HIGH								--	--	1																																		TOP3A_uc002gsw.1_5'UTR|TOP3A_uc010vxs.1_Frame_Shift_Del_p.E15fs|TOP3A_uc010cqa.1_RNA	1	1			p.E117fs	NM_004618	NP_004609			1	TOP3A_HUMAN	TOP3A	HGNC	Q13472	TOP3A_HUMAN			B4DSJ0_HUMAN,A8K398_HUMAN		4	578_579	-			UPI00001371A0	117			Toprim.		deletion	TOP3A,frameshift_variant,p.Glu117AsnfsTer2,ENST00000321105,NM_004618.3;TOP3A,frameshift_variant,p.Glu22AsnfsTer2,ENST00000542570,;TOP3A,frameshift_variant,p.Glu92AsnfsTer2,ENST00000580095,;TOP3A,non_coding_transcript_exon_variant,,ENST00000584669,;TOP3A,downstream_gene_variant,,ENST00000582230,;TOP3A,downstream_gene_variant,,ENST00000584887,;TOP3A,frameshift_variant,p.Lys130IlefsTer?,ENST00000461127,;TOP3A,3_prime_UTR_variant,,ENST00000584582,;TOP3A,3_prime_UTR_variant,,ENST00000582981,;TOP3A,non_coding_transcript_exon_variant,,ENST00000469739,;TOP3A,non_coding_transcript_exon_variant,,ENST00000472959,;TOP3A,non_coding_transcript_exon_variant,,ENST00000583328,;TOP3A,upstream_gene_variant,,ENST00000583804,;TOP3A,upstream_gene_variant,,ENST00000581536,;TOP3A,downstream_gene_variant,,ENST00000585031,;TOP3A,downstream_gene_variant,,ENST00000580713,;RPL7AP65,upstream_gene_variant,,ENST00000418183,;	uc002gsx.1	c.349_350delGA	564-565/4056	5	5			c.349_350delGA						17	DEL	c.(349-351)GAAfs	21	21			skin(3)	3	Broad	topoisomerase (DNA) III alpha			18210246		0.426	ENSG00000177302	16117	g.chr17:18210245_18210246delTC	DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding																				0.32	1	1	0	1	0	0	0	0	0	--	--		0	-			TOP3A_uc002gsw.1_5'UTR|TOP3A_uc010vxs.1_Frame_Shift_Del_p.E15fs|TOP3A_uc010cqa.1_RNA	142	GBM-14-1034-TP	p.E117fs	TC	CTTTTCAATTTCTGCTTCAAAG	NM_004618	NP_004609	18210245	Q13472	TOP3A_HUMAN	0			4	578_579	-	-	-			Frame_Shift_Del	117			Toprim.			
TOP3B	0	broad.mit.edu	GRCh37	22	22317253	22317253	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-2491-01	TCGA-32-2491-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357179.5:c.1217G>T	p.Trp406Leu	p.W406L	ENST00000357179	NM_001282113.1	406	tGg/tTg	0			1			A	W/L	uc002zvs.2	protein_coding		CCDS13797.1			1217/2589									kidney(1)	1	c.(1216-1218)TGG>TTG			Gene3D:2.70.20.10,Pfam_domain:PF01131,hmmpanther:PTHR11390,hmmpanther:PTHR11390:SF20,SMART_domains:SM00437,Superfamily_domains:SSF56712	topoisomerase (DNA) III beta				ENSP00000349705		18-Dec									COSM3405538,COSM3405537,COSM3405539	18-Dec	.		ENST00000357179	Transcript			DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding	ENSG00000100038	g.chr22:22317253C>A	11993			MODERATE		2.25	medium	getma.org/?cm=msa&ty=f&p=TOP3B_HUMAN&rb=169&re=583&var=W406L	getma.org/pdb.php?prot=TOP3B_HUMAN&from=169&to=583&var=W406L	getma.org/?cm=var&var=hg19,22,22317253,C,A&fts=all	W406L	--	--	1																																		TOP3B_uc010gtm.1_5'UTR|TOP3B_uc002zvr.2_Missense_Mutation_p.W131L|TOP3B_uc010gtl.2_Missense_Mutation_p.W406L|TOP3B_uc002zvt.3_Missense_Mutation_p.W406L	1,1,1			benign(0.118)	p.W406L	NM_003935	NP_003926		deleterious(0.04)	1,1,1	TOP3B_HUMAN	TOP3B	HGNC	O95985	TOP3B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	C9JTQ7_HUMAN,C9JT00_HUMAN,C9JKE2_HUMAN,C9JHR0_HUMAN,C9JEQ1_HUMAN,C9JEI7_HUMAN,C9J9X4_HUMAN		12	1652	-	Colorectal(54;0.105)		UPI00001371A1	406					SNV	TOP3B,missense_variant,p.Trp406Leu,ENST00000398793,NM_003935.3;TOP3B,missense_variant,p.Trp201Leu,ENST00000457270,;TOP3B,missense_variant,p.Trp406Leu,ENST00000357179,NM_001282113.1,NM_001282112.1;TOP3B,missense_variant,p.Trp135Leu,ENST00000413067,;TOP3B,3_prime_UTR_variant,,ENST00000444502,;TOP3B,3_prime_UTR_variant,,ENST00000457179,;TOP3B,3_prime_UTR_variant,,ENST00000436282,;TOP3B,non_coding_transcript_exon_variant,,ENST00000470338,;	uc002zvs.2	c.1217G>T	1402/2863	2	2			c.1217G>T						22	SNP	c.(1216-1218)TGG>TTG	41	41			kidney(1)	1	Broad	topoisomerase (DNA) III beta			22317253		0.617	ENSG00000100038	16118	g.chr22:22317253C>A	DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding							-0.906489	KEEP	3	0	-1	19	29	3	0	-1	6.506485	19	29	0.075	1	0	0	0	0	1	0	0	0	--	--		0	A			TOP3B_uc010gtm.1_5'UTR|TOP3B_uc002zvr.2_Missense_Mutation_p.W131L|TOP3B_uc010gtl.2_Missense_Mutation_p.W406L|TOP3B_uc002zvt.3_Missense_Mutation_p.W406L	235	GBM-32-2491-TP	p.W406L	C	ATAGAGCCGCCACGCGTCACC	NM_003935	NP_003926	22317253	O95985	TOP3B_HUMAN	0		READ - Rectum adenocarcinoma(21;0.145)	12	1652	-	A	A	Colorectal(54;0.105)		Missense_Mutation	406						
TOPORS	0	broad.mit.edu	GRCh37	9	32543467	32543467	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-26-6174-01	TCGA-26-6174-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360538.2:c.1056A>G	p.Ile352Met	p.I352M	ENST00000360538	NM_005802.4	352	atA/atG	0			1			C	I/M	uc003zrb.2	protein_coding	YES	CCDS6527.1			1056/3138									ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5	c.(1054-1056)ATA>ATG			hmmpanther:PTHR12456:SF12,hmmpanther:PTHR12456	topoisomerase I binding, arginine/serine-rich				ENSP00000353735		3-Mar									COSM3413589	3-Mar	.		ENST00000360538	Transcript	1		DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000197579	g.chr9:32543467T>C	21653			MODERATE		1.76	low	getma.org/?cm=msa&ty=f&p=TOPRS_HUMAN&rb=155&re=386&var=I352M	NA	getma.org/?cm=var&var=hg19,9,32543467,T,C&fts=all	I352M	--	--	1																																		TOPORS_uc003zrc.2_Missense_Mutation_p.I285M	1	1		possibly_damaging(0.84)	p.I352M	NM_005802	NP_005793		deleterious(0.01)	1	TOPRS_HUMAN	TOPORS	HGNC	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)			3	1223	-			UPI000006F223	352			Required for DNA-binding.		SNV	TOPORS,missense_variant,p.Ile352Met,ENST00000360538,NM_005802.4;TOPORS,missense_variant,p.Ile287Met,ENST00000379858,NM_001195622.1;AL353671.2,upstream_gene_variant,,ENST00000359975,;AL353671.1,downstream_gene_variant,,ENST00000366355,;	uc003zrb.2	c.1056A>G	1173/4098	3	3			c.1056A>G						9	SNP	c.(1054-1056)ATA>ATG	8	8			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5	Broad	topoisomerase I binding, arginine/serine-rich			32543467		0.398	ENSG00000197579	16120	g.chr9:32543467T>C	DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding							76.172578	KEEP	11	12	-1	14	14	11	12	-1	76.335222	14	14	0.4375	1	0	0	0	0	1	0	0	0	--	--		0	C			TOPORS_uc003zrc.2_Missense_Mutation_p.I285M	188	GBM-26-6174-TP	p.I352M	T	TAAATTCATGTATAAAATGCT	NM_005802	NP_005793	32543467	Q9NS56	TOPRS_HUMAN	0	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	1223	-	C	C			Missense_Mutation	352			Required for DNA-binding.			
TOR1A	0	broad.mit.edu	GRCh37	9	132585088	132585088	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-2629-01	TCGA-19-2629-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000351698.4:c.216G>A	p.Gln72=	p.Q72=	ENST00000351698	NM_000113.2	72	caG/caA	0			1			T	Q	uc004byl.2	protein_coding	YES	CCDS6930.1			216/999									central_nervous_system(1)	1	c.(214-216)CAG>CAA			Gene3D:3.40.50.300,Pfam_domain:PF06309,PIRSF_domain:PIRSF038079,hmmpanther:PTHR10760,hmmpanther:PTHR10760:SF13,Superfamily_domains:SSF52540	torsin A precursor				ENSP00000345719		5-Feb									COSM3328530	5-Feb	.		ENST00000351698	Transcript	1		chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding	ENSG00000136827	g.chr9:132585088C>T	3098			LOW								--	--	1																																		TOR1A_uc004bym.2_RNA|TOR1A_uc004byn.2_Silent_p.Q72Q	1	1			p.Q72Q	NM_000113	NP_000104			1	TOR1A_HUMAN	TOR1A	HGNC	O14656	TOR1A_HUMAN			B4DGM9_HUMAN		2	293	-		Ovarian(14;0.00556)	UPI00001370F5	72					SNV	TOR1A,synonymous_variant,p.=,ENST00000351698,NM_000113.2;C9orf78,downstream_gene_variant,,ENST00000372447,NM_016520.2;TOR1A,non_coding_transcript_exon_variant,,ENST00000473084,;TOR1A,non_coding_transcript_exon_variant,,ENST00000473604,;TOR1A,upstream_gene_variant,,ENST00000474192,;	uc004byl.2	c.216G>A	265/2076	1	1			c.216G>A						9	SNP	c.(214-216)CAG>CAA	5	5			central_nervous_system(1)	1	Broad	torsin A precursor			132585088		0.483	ENSG00000136827	16121	g.chr9:132585088C>T	chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding							-30.411968	KEEP	0	3	-1	79	68	0	3	-1	6.311207	79	68	0.020979	1	0	0	0	0	0	0	1	0	--	--		0	T			TOR1A_uc004bym.2_RNA|TOR1A_uc004byn.2_Silent_p.Q72Q	166	GBM-19-2629-TP	p.Q72Q	C	TTGCAAGATGCTGTCCAAAGA	NM_000113	NP_000104	132585088	O14656	TOR1A_HUMAN	0			2	293	-	T	T		Ovarian(14;0.00556)	Silent	72						
TOR1AIP1	26092		GRCh37	1	179886766	179886766	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000606911.2:c.1144C>T	p.Gln382Ter	p.Q382*	ENST00000606911		382	Caa/Taa	0																																																																																																																																																																																																																																												
TOX2	84969	broad.mit.edu	GRCh37	20	42695486	42695486	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0122-01	TCGA-06-0122-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341197.4:c.1473C>G	p.Ile491Met	p.I491M	ENST00000341197	NM_001098797.1	491	atC/atG	0			1			G	I/M	uc002xlf.3	protein_coding		CCDS42875.1			1419/1467									ovary(1)	1	c.(1417-1419)ATC>ATG			hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF171	TOX high mobility group box family member 2				ENSP00000350849		8-Jul									COSM3405099,COSM3405100,COSM3405101	8-Jul	.		ENST00000358131	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	ENSG00000124191	g.chr20:42695486C>G	16095			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=TOX2_HUMAN&rb=306&re=488&var=I473M	NA	getma.org/?cm=var&var=hg19,20,42695486,C,G&fts=all	I473M	--	--	1																																		TOX2_uc010ggo.2_Missense_Mutation_p.I491M|TOX2_uc002xle.3_Missense_Mutation_p.I449M|TOX2_uc010ggp.2_Missense_Mutation_p.I449M|TOX2_uc002xlg.2_Missense_Mutation_p.I290M|TOX2_uc010zwk.1_Missense_Mutation_p.I369M	1,1,1			benign(0.054)	p.I473M	NM_001098798	NP_001092268		deleterious_low_confidence(0.05)	1,1,1	TOX2_HUMAN	TOX2	HGNC	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)				7	1436	+		Myeloproliferative disorder(115;0.00452)	UPI00001285F3	473					SNV	TOX2,stop_gained,p.Ser98Ter,ENST00000413823,;TOX2,missense_variant,p.Ile473Met,ENST00000358131,NM_001098798.1;TOX2,missense_variant,p.Ile449Met,ENST00000372999,NM_032883.2;TOX2,missense_variant,p.Ile491Met,ENST00000341197,NM_001098797.1;TOX2,missense_variant,p.Ile449Met,ENST00000423191,NM_001098796.1;TOX2,non_coding_transcript_exon_variant,,ENST00000435864,;	uc002xlf.3	c.1419C>G	1627/2605	4	4			c.1419C>G						20	SNP	c.(1417-1419)ATC>ATG	25	25			ovary(1)	1	Broad	TOX high mobility group box family member 2			42695486		0.647	ENSG00000124191	16128	g.chr20:42695486C>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding							-33.042125	KEEP	0	4	-1	86	90	0	4	-1	8.147571	86	90	0.02439	1	0	0	0	0	1	0	0	0	--	--		0	G			TOX2_uc010ggo.2_Missense_Mutation_p.I491M|TOX2_uc002xle.3_Missense_Mutation_p.I449M|TOX2_uc010ggp.2_Missense_Mutation_p.I449M|TOX2_uc002xlg.2_Missense_Mutation_p.I290M|TOX2_uc010zwk.1_Missense_Mutation_p.I369M	10	GBM-06-0122-TP	p.I473M	C	AGTGTGGCATCAGCACCTGCA	NM_001098798	NP_001092268	42695486	Q96NM4	TOX2_HUMAN	0	COAD - Colon adenocarcinoma(18;0.00189)		7	1436	+	G	G		Myeloproliferative disorder(115;0.00452)	Missense_Mutation	473						
TP53	7157	broad.mit.edu	GRCh37	17	7577094	7577094	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-02-0003-01	TCGA-02-0003-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.844C>T	p.Arg282Trp	p.R282W	ENST00000269305	NM_001126112.2	282	Cgg/Tgg	0			1			A	R/W	uc002gim.2	protein_coding	YES	CCDS11118.1		111	844/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	likely_benign,pathogenic		p.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(844-846)CGG>TGG		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-Aug									rs28934574,TP53_g.13824C>T,COSM10704,COSM99925,COSM3378339,COSM1636702	11-Aug	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7577094G>A	11998			MODERATE		3.075	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=R282W	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=R282W	getma.org/?cm=var&var=hg19,17,7577094,G,A&fts=all	R282W	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W	1,0,1,1,1,1	1	251,056,602,540,450,000,000,000	probably_damaging(0.997)	p.R282W	NM_001126112	NP_001119584		deleterious(0)	0,0,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		8	1038	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	282		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Arg282Trp,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Arg282Trp,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Arg282Trp,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Arg282Trp,ENST00000445888,;TP53,missense_variant,p.Arg282Trp,ENST00000359597,;TP53,missense_variant,p.Arg150Trp,ENST00000509690,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,downstream_gene_variant,,ENST00000505014,;	uc002gim.2	c.844C>T	1034/2579	1	1		111	c.844C>T	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(844-846)CGG>TGG	55	55		p.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7577094	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.557	ENSG00000141510	16131	g.chr17:7577094G>A	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.R282G(NCIH510-Tumor)|p.R282W(HUPT3-Tumor)|p.V274fs(SCC9-Tumor)|p.R282W(CAL29-Tumor)|p.R282W(EFE184-Tumor)|p.R282W(OVKATE-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.R282G(NCIH510-Tumor)|p.R282W(HUPT3-Tumor)|p.V274fs(SCC9-Tumor)|p.R282W(CAL29-Tumor)|p.R282W(EFE184-Tumor)|p.R282W(OVKATE-Tumor)	690	137.483326	KEEP	25	23	-1	27	33	25	23	-1	138.02019	27	33	0.423077	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	A			TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W	1	GBM-02-0003-TP	p.R282W	G	TCTGTGCGCCGGTCTCTCCCA	NM_001126112	NP_001119584	7577094	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1038	-	A	A		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	282		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	7157	broad.mit.edu	GRCh37	17	7578396	7578396	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-02-0003-01	TCGA-02-0003-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.534C>A	p.His178Gln	p.H178Q	ENST00000269305	NM_001126112.2	178	caC/caA	0			1			T	H/Q	uc002gim.2	protein_coding	YES	CCDS11118.1		111	534/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.H178fs*69(13)|p.P177_C182delPHHERC(8)|p.H179Y(8)|p.H178Y(8)|p.0?(7)|p.H178P(6)|p.H178fs*3(5)|p.H178Q(5)|p.H178D(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.H178N(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H178H(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.R175_H178>X(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.H178_H179>QY(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.H178del(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H178L(1)|p.R174fs*3(1)|p.E171fs*61(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(532-534)CAC>CAA		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-May									TP53_g.12522C>A,COSM11998,COSM1559479,COSM1559480,COSM1559482,COSM2148896,COSM1559481	11-May	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7578396G>T	11998			MODERATE		2.105	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=H178Q	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=H178Q	getma.org/?cm=var&var=hg19,17,7578396,G,T&fts=all	H178Q	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Missense_Mutation_p.H178Q|TP53_uc002gih.2_Missense_Mutation_p.H178Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H46Q|TP53_uc010cng.1_Missense_Mutation_p.H46Q|TP53_uc002gii.1_Missense_Mutation_p.H46Q|TP53_uc010cnh.1_Missense_Mutation_p.H178Q|TP53_uc010cni.1_Missense_Mutation_p.H178Q|TP53_uc002gij.2_Missense_Mutation_p.H178Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H85Q|TP53_uc002gio.2_Missense_Mutation_p.H46Q|TP53_uc010vug.1_Missense_Mutation_p.H139Q	0,1,1,1,1,1,1	1		probably_damaging(1)	p.H178Q	NM_001126112	NP_001119584		deleterious(0)	0,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		5	728	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	178		H -> L (in a sporadic cancer; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> HPHP (in a Burkitt lymphoma).|H -> D (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.His178Gln,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.His178Gln,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.His178Gln,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.His178Gln,ENST00000445888,;TP53,missense_variant,p.His178Gln,ENST00000359597,;TP53,missense_variant,p.His178Gln,ENST00000413465,;TP53,missense_variant,p.His46Gln,ENST00000509690,;TP53,missense_variant,p.His85Gln,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,non_coding_transcript_exon_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	uc002gim.2	c.534C>A	724/2579	2	2		111	c.534C>A	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(532-534)CAC>CAA	28	28		p.H178fs*69(13)|p.P177_C182delPHHERC(8)|p.H179Y(8)|p.H178Y(8)|p.0?(7)|p.H178P(6)|p.H178fs*3(5)|p.H178Q(5)|p.H178D(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.H178N(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H178H(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.R175_H178>X(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.H178_H179>QY(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.H178del(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H178L(1)|p.R174fs*3(1)|p.E171fs*61(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7578396	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.642	ENSG00000141510	16131	g.chr17:7578396G>T	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.R174fs(THP1-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.R174fs(THP1-Tumor)	690	123.671792	KEEP	24	26	0.48	32	50	24	26	0.48	125.154042	32	50	0.37931	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	T			TP53_uc002gig.1_Missense_Mutation_p.H178Q|TP53_uc002gih.2_Missense_Mutation_p.H178Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H46Q|TP53_uc010cng.1_Missense_Mutation_p.H46Q|TP53_uc002gii.1_Missense_Mutation_p.H46Q|TP53_uc010cnh.1_Missense_Mutation_p.H178Q|TP53_uc010cni.1_Missense_Mutation_p.H178Q|TP53_uc002gij.2_Missense_Mutation_p.H178Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H85Q|TP53_uc002gio.2_Missense_Mutation_p.H46Q|TP53_uc010vug.1_Missense_Mutation_p.H139Q	1	GBM-02-0003-TP	p.H178Q	G	AGCGCTCATGGTGGGGGCAGC	NM_001126112	NP_001119584	7578396	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	728	-	T	T		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	178		H -> L (in a sporadic cancer; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> HPHP (in a Burkitt lymphoma).|H -> D (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	7157	broad.mit.edu	GRCh37	17	7578550	7578550	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-02-2485-01	TCGA-02-2485-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.380C>A	p.Ser127Tyr	p.S127Y	ENST00000269305	NM_001126112.2	127	tCc/tAc	0			1			T	S/Y	uc002gim.2	protein_coding	YES	CCDS11118.1		111	380/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.S127F(18)|p.S127Y(8)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.S127P(3)|p.S127T(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127S(1)|p.S127C(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S127fs*43(1)|p.S127fs*42(1)|p.Y126fs*18(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(379-381)TCC>TAC		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-May									TP53_g.12368C>A,COSM43970,COSM3403294,COSM3403297,COSM3403296,COSM3403295,COSM3403298	11-May	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7578550G>T	11998			MODERATE		3.17	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=S127Y	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=S127Y	getma.org/?cm=var&var=hg19,17,7578550,G,T&fts=all	S127Y	-0.46	neutral	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Missense_Mutation_p.S127Y|TP53_uc002gih.2_Missense_Mutation_p.S127Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.S127Y|TP53_uc010cni.1_Missense_Mutation_p.S127Y|TP53_uc002gij.2_Missense_Mutation_p.S127Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.S34Y|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.S88Y	0,1,1,1,1,1,1	1		probably_damaging(1)	p.S127Y	NM_001126112	NP_001119584		deleterious(0)	0,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		5	574	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	127		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Ser127Tyr,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Ser127Tyr,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Ser127Tyr,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Ser127Tyr,ENST00000445888,;TP53,missense_variant,p.Ser127Tyr,ENST00000359597,;TP53,missense_variant,p.Ser127Tyr,ENST00000413465,;TP53,missense_variant,p.Ser127Tyr,ENST00000508793,;TP53,missense_variant,p.Ser127Tyr,ENST00000503591,;TP53,missense_variant,p.Ser34Tyr,ENST00000514944,;TP53,5_prime_UTR_variant,,ENST00000509690,;TP53,intron_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	uc002gim.2	c.380C>A	570/2579	2	2		111	c.380C>A	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(379-381)TCC>TAC	46	46		p.S127F(18)|p.S127Y(8)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.S127P(3)|p.S127T(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127S(1)|p.S127C(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S127fs*43(1)|p.S127fs*42(1)|p.Y126fs*18(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7578550	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.552	ENSG00000141510	16131	g.chr17:7578550G>T	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	(CORL279-Tumor)|p.S127F(SNU410-Tumor)	690	Pancreas(47;798 1329 9957 10801)	(CORL279-Tumor)|p.S127F(SNU410-Tumor)	690	58.2078	KEEP	11	10	0.523809524	12	11	11	10	0.523809524	58.22748	12	11	0.47619	1	0	0	0	0	1	0	0	0	-0.46	neutral	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	T			TP53_uc002gig.1_Missense_Mutation_p.S127Y|TP53_uc002gih.2_Missense_Mutation_p.S127Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.S127Y|TP53_uc010cni.1_Missense_Mutation_p.S127Y|TP53_uc002gij.2_Missense_Mutation_p.S127Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.S34Y|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.S88Y	7	GBM-02-2485-TP	p.S127Y	G	GAGGGCAGGGGAGTACTGTAG	NM_001126112	NP_001119584	7578550	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	574	-	T	T		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	127		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	7157	broad.mit.edu	GRCh37	17	7576910	7576910	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0128-01	TCGA-06-0128-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.936del	p.Ser313AlafsTer32	p.S313Afs*32	ENST00000269305	NM_001126112.2	312	acC/ac	0			1			-	T/X	uc002gim.2	protein_coding	YES	CCDS11118.1		111	936/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.0?(7)|p.T312S(4)|p.?(2)|p.T312T(2)|p.S313fs*24(2)|p.T312fs*25(1)|p.T312fs*33(1)|p.L308fs*15(1)|p.L308fs*31(1)|p.T312A(1)|p.S313fs*32(1)|p.T312I(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(934-936)ACCfs		Other_conserved_DNA_damage_response_genes	hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6	tumor protein p53 isoform a				ENSP00000269305		11-Sep									TP53_g.14008del,COSM45392,COSM2149481,COSM2149482	11-Sep	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7576910delG	11998			HIGH								--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Del_p.T312fs|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_Frame_Shift_Del_p.T180fs|TP53_uc010cng.1_Frame_Shift_Del_p.T180fs|TP53_uc002gii.1_Frame_Shift_Del_p.T180fs|TP53_uc010cnh.1_Frame_Shift_Del_p.T312fs|TP53_uc010cni.1_Frame_Shift_Del_p.T312fs|TP53_uc002gij.2_Frame_Shift_Del_p.T312fs	0,1,1,1	1			p.T312fs	NM_001126112	NP_001119584			0,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		9	1130	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	312		T -> I (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).	Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.		deletion	TP53,frameshift_variant,p.Ser313AlafsTer38,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,frameshift_variant,p.Ser313AlafsTer30,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,frameshift_variant,p.Ser313AlafsTer32,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,frameshift_variant,p.Ser313AlafsTer32,ENST00000445888,;TP53,frameshift_variant,p.Ser313AlafsTer39,ENST00000359597,;TP53,frameshift_variant,p.Ser181AlafsTer?,ENST00000509690,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,downstream_gene_variant,,ENST00000505014,;	uc002gim.2	c.936delC	1126/2579	5	5		111	c.936delC	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	DEL	c.(934-936)ACCfs	14	14		p.0?(7)|p.T312S(4)|p.?(2)|p.T312T(2)|p.S313fs*24(2)|p.T312fs*25(1)|p.T312fs*33(1)|p.L308fs*15(1)|p.L308fs*31(1)|p.T312A(1)|p.S313fs*32(1)|p.T312I(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7576910	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.488	ENSG00000141510	16131	g.chr17:7576910delG	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)		690	Pancreas(47;798 1329 9957 10801)		690														0.78	1	1	0	1	0	0	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	-			TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Del_p.T312fs|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_Frame_Shift_Del_p.T180fs|TP53_uc010cng.1_Frame_Shift_Del_p.T180fs|TP53_uc002gii.1_Frame_Shift_Del_p.T180fs|TP53_uc010cnh.1_Frame_Shift_Del_p.T312fs|TP53_uc010cni.1_Frame_Shift_Del_p.T312fs|TP53_uc002gij.2_Frame_Shift_Del_p.T312fs	14	GBM-06-0128-TP	p.T312fs	G	GAGAGGAGCTGGTGTTGTTGG	NM_001126112	NP_001119584	7576910	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1130	-	-	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Frame_Shift_Del	312		T -> I (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).	Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.			
TP53	7157	broad.mit.edu	GRCh37	17	7578457	7578457	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0130-01	TCGA-06-0130-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.473G>A	p.Arg158His	p.R158H	ENST00000269305	NM_001126112.2	158	cGc/cAc	0			1			T	R/H	uc002gim.2	protein_coding	YES	CCDS11118.1		111	473/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	pathogenic		p.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(472-474)CGC>CAC		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-May	8.24E-06					1.50E-05			rs587782144,TP53_g.12461G>A,COSM10690,COSM220779,COSM220778,COSM220780,COSM3378357,COSM1640853,COSM220781	11-May	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7578457C>T	11998			MODERATE		2.375	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=R158H	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=R158H	getma.org/?cm=var&var=hg19,17,7578457,C,T&fts=all	R158H	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Missense_Mutation_p.R158H|TP53_uc002gih.2_Missense_Mutation_p.R158H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26H|TP53_uc010cng.1_Missense_Mutation_p.R26H|TP53_uc002gii.1_Missense_Mutation_p.R26H|TP53_uc010cnh.1_Missense_Mutation_p.R158H|TP53_uc010cni.1_Missense_Mutation_p.R158H|TP53_uc002gij.2_Missense_Mutation_p.R158H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65H|TP53_uc002gio.2_Missense_Mutation_p.R26H|TP53_uc010vug.1_Missense_Mutation_p.R119H	1,0,1,1,1,1,1,1,1	1		benign(0.438)	p.R158H	NM_001126112	NP_001119584		tolerated(0.1)	0,0,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		5	667	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	158		R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Arg158His,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Arg158His,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Arg158His,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Arg158His,ENST00000445888,;TP53,missense_variant,p.Arg158His,ENST00000359597,;TP53,missense_variant,p.Arg158His,ENST00000413465,;TP53,missense_variant,p.Arg26His,ENST00000509690,;TP53,missense_variant,p.Arg158His,ENST00000508793,;TP53,missense_variant,p.Arg65His,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	uc002gim.2	c.473G>A	663/2579	1	1		111	c.473G>A	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(472-474)CGC>CAC	12	12		p.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7578457	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.627	ENSG00000141510	16131	g.chr17:7578457C>T	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.R158H(MOLT16-Tumor)|p.R158L(NCIH747-Tumor)|p.R158P(NCIH2110-Tumor)|p.R158L(NCIH661-Tumor)|p.R158L(NCIH441-Tumor)|p.R158H(ST486-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.R158H(MOLT16-Tumor)|p.R158L(NCIH747-Tumor)|p.R158P(NCIH2110-Tumor)|p.R158L(NCIH661-Tumor)|p.R158L(NCIH441-Tumor)|p.R158H(ST486-Tumor)	690	64.170053	KEEP	15	15	-1	27	31	15	15	-1	66.884067	27	31	0.303797	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	T			TP53_uc002gig.1_Missense_Mutation_p.R158H|TP53_uc002gih.2_Missense_Mutation_p.R158H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26H|TP53_uc010cng.1_Missense_Mutation_p.R26H|TP53_uc002gii.1_Missense_Mutation_p.R26H|TP53_uc010cnh.1_Missense_Mutation_p.R158H|TP53_uc010cni.1_Missense_Mutation_p.R158H|TP53_uc002gij.2_Missense_Mutation_p.R158H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65H|TP53_uc002gio.2_Missense_Mutation_p.R26H|TP53_uc010vug.1_Missense_Mutation_p.R119H	16	GBM-06-0130-TP	p.R158H	C	GGCCATGGCGCGGACGCGGGT	NM_001126112	NP_001119584	7578457	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	667	-	T	T		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	158		R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	7157	broad.mit.edu	GRCh37	17	7578457	7578457	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0184-01	TCGA-06-0184-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.473G>A	p.Arg158His	p.R158H	ENST00000269305	NM_001126112.2	158	cGc/cAc	0			1			T	R/H	uc002gim.2	protein_coding	YES	CCDS11118.1		111	473/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	pathogenic		p.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(472-474)CGC>CAC		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-May	8.24E-06					1.50E-05			rs587782144,TP53_g.12461G>A,COSM10690,COSM220779,COSM220778,COSM220780,COSM3378357,COSM1640853,COSM220781	11-May	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7578457C>T	11998			MODERATE		2.375	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=R158H	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=R158H	getma.org/?cm=var&var=hg19,17,7578457,C,T&fts=all	R158H	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Missense_Mutation_p.R158H|TP53_uc002gih.2_Missense_Mutation_p.R158H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26H|TP53_uc010cng.1_Missense_Mutation_p.R26H|TP53_uc002gii.1_Missense_Mutation_p.R26H|TP53_uc010cnh.1_Missense_Mutation_p.R158H|TP53_uc010cni.1_Missense_Mutation_p.R158H|TP53_uc002gij.2_Missense_Mutation_p.R158H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65H|TP53_uc002gio.2_Missense_Mutation_p.R26H|TP53_uc010vug.1_Missense_Mutation_p.R119H	1,0,1,1,1,1,1,1,1	1		benign(0.438)	p.R158H	NM_001126112	NP_001119584		tolerated(0.1)	0,0,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		5	667	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	158		R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Arg158His,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Arg158His,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Arg158His,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Arg158His,ENST00000445888,;TP53,missense_variant,p.Arg158His,ENST00000359597,;TP53,missense_variant,p.Arg158His,ENST00000413465,;TP53,missense_variant,p.Arg26His,ENST00000509690,;TP53,missense_variant,p.Arg158His,ENST00000508793,;TP53,missense_variant,p.Arg65His,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	uc002gim.2	c.473G>A	663/2579	1	1		111	c.473G>A	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(472-474)CGC>CAC	12	12		p.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7578457	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.627	ENSG00000141510	16131	g.chr17:7578457C>T	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.R158H(MOLT16-Tumor)|p.R158L(NCIH747-Tumor)|p.R158P(NCIH2110-Tumor)|p.R158L(NCIH661-Tumor)|p.R158L(NCIH441-Tumor)|p.R158H(ST486-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.R158H(MOLT16-Tumor)|p.R158L(NCIH747-Tumor)|p.R158P(NCIH2110-Tumor)|p.R158L(NCIH661-Tumor)|p.R158L(NCIH441-Tumor)|p.R158H(ST486-Tumor)	690	97.42588	KEEP	19	21	-1	38	31	19	21	-1	99.007443	38	31	0.361702	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	T			TP53_uc002gig.1_Missense_Mutation_p.R158H|TP53_uc002gih.2_Missense_Mutation_p.R158H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26H|TP53_uc010cng.1_Missense_Mutation_p.R26H|TP53_uc002gii.1_Missense_Mutation_p.R26H|TP53_uc010cnh.1_Missense_Mutation_p.R158H|TP53_uc010cni.1_Missense_Mutation_p.R158H|TP53_uc002gij.2_Missense_Mutation_p.R158H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65H|TP53_uc002gio.2_Missense_Mutation_p.R26H|TP53_uc010vug.1_Missense_Mutation_p.R119H	39	GBM-06-0184-TP	p.R158H	C	GGCCATGGCGCGGACGCGGGT	NM_001126112	NP_001119584	7578457	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	667	-	T	T		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	158		R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	7157	broad.mit.edu	GRCh37	17	7578406	7578406	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-06-0189-01	TCGA-06-0189-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.524G>A	p.Arg175His	p.R175H	ENST00000269305	NM_001126112.2	175	cGc/cAc	0			1			T	R/H	uc002gim.2	protein_coding	YES	CCDS11118.1	R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	111	524/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	pathogenic		p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(523-525)CGC>CAC		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-May									rs28934578,TP53_g.12512G>A,COSM10648,COSM99914,COSM99022,COSM99023,COSM3355994,COSM1640851,COSM99024	11-May	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7578406C>T	11998			MODERATE		3.345	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=R175H	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=R175H	getma.org/?cm=var&var=hg19,17,7578406,C,T&fts=all	R175H	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	1,0,1,1,1,1,1,1,1	1	25,105,660,212,642,000,000,000,000,000,000	benign(0.308)	p.R175H	NM_001126112	NP_001119584		tolerated(0.11)	1,0,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		5	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	175		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Arg175His,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Arg175His,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Arg175His,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Arg175His,ENST00000445888,;TP53,missense_variant,p.Arg175His,ENST00000359597,;TP53,missense_variant,p.Arg175His,ENST00000413465,;TP53,missense_variant,p.Arg43His,ENST00000509690,;TP53,missense_variant,p.Arg82His,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,non_coding_transcript_exon_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	uc002gim.2	c.524G>A	714/2579	2	2	R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	111	c.524G>A	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(523-525)CGC>CAC	45	45		p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7578406	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.652	ENSG00000141510	16131	g.chr17:7578406C>T	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.R175L(LS123-Tumor)|p.R175L(VMRCLCD-Tumor)|p.R175L(DETROIT562-Tumor)|p.R175L(KMS26-Tumor)|p.R175L(KLE-Tumor)|p.R175L(SNU245-Tumor)|p.R175L(SKBR3-Tumor)|p.R175L(RKN-Tumor)|p.R174fs(THP1-Tumor)|p.R175L(HCC1395-Tumor)|p.R175L(VMCUB1-Tumor)|p.R175L(RT11284-Tumor)|p.R175L(AU565-Tumor)|p.R175L(SKUT1-Tumor)|p.R175L(HS571.T-Tumor)|p.R175L(HUCCT1-Tumor)|p.R175L(TYKNU-Tumor)|p.R175L(LMSU-Tumor)|p.R175L(CAL33-Tumor)|p.R175L(SNU1197-Tumor)|p.R175L(NCIH196-Tumor)|p.R175H(HCC44-Tumor)|p.R175L(OPM2-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.R175L(LS123-Tumor)|p.R175L(VMRCLCD-Tumor)|p.R175L(DETROIT562-Tumor)|p.R175L(KMS26-Tumor)|p.R175L(KLE-Tumor)|p.R175L(SNU245-Tumor)|p.R175L(SKBR3-Tumor)|p.R175L(RKN-Tumor)|p.R174fs(THP1-Tumor)|p.R175L(HCC1395-Tumor)|p.R175L(VMCUB1-Tumor)|p.R175L(RT11284-Tumor)|p.R175L(AU565-Tumor)|p.R175L(SKUT1-Tumor)|p.R175L(HS571.T-Tumor)|p.R175L(HUCCT1-Tumor)|p.R175L(TYKNU-Tumor)|p.R175L(LMSU-Tumor)|p.R175L(CAL33-Tumor)|p.R175L(SNU1197-Tumor)|p.R175L(NCIH196-Tumor)|p.R175H(HCC44-Tumor)|p.R175L(OPM2-Tumor)	690	0.726102	KEEP	6	5	-1	68	64	6	5	-1	21.576509	68	64	0.084034	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	T			TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	42	GBM-06-0189-TP	p.R175H	C	GTGGGGGCAGCGCCTCACAAC	NM_001126112	NP_001119584	7578406	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	718	-	T	T		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	175		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	7157	broad.mit.edu	GRCh37	17	7577142	7577142	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01	TCGA-06-0195-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.796G>A	p.Gly266Arg	p.G266R	ENST00000269305	NM_001126112.2	266	Gga/Aga	0			1			T	G/R	uc002gim.2	protein_coding	YES	CCDS11118.1		111	796/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.G266E(45)|p.G266R(42)|p.G266V(31)|p.G266*(12)|p.0?(7)|p.G266fs*79(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266G(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(796-798)GGA>AGA		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-Aug									TP53_g.13776G>A,COSM10794,COSM1559475,COSM3388175,COSM1645293	11-Aug	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7577142C>T	11998			MODERATE		3.3	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=G266R	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=G266R	getma.org/?cm=var&var=hg19,17,7577142,C,T&fts=all	G266R	0	neutral	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.G266R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G134R|TP53_uc010cng.1_Missense_Mutation_p.G134R|TP53_uc002gii.1_Missense_Mutation_p.G134R|TP53_uc010cnh.1_Missense_Mutation_p.G266R|TP53_uc010cni.1_Missense_Mutation_p.G266R|TP53_uc002gij.2_Missense_Mutation_p.G266R	0,1,1,1,1	1		probably_damaging(0.999)	p.G266R	NM_001126112	NP_001119584		deleterious(0.03)	0,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		8	990	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	266		G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> A (in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Gly266Arg,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Gly266Arg,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Gly266Arg,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Gly266Arg,ENST00000445888,;TP53,missense_variant,p.Gly266Arg,ENST00000359597,;TP53,missense_variant,p.Gly134Arg,ENST00000509690,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,downstream_gene_variant,,ENST00000505014,;	uc002gim.2	c.796G>A	986/2579	2	2		111	c.796G>A	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(796-798)GGA>AGA	28	28		p.G266E(45)|p.G266R(42)|p.G266V(31)|p.G266*(12)|p.0?(7)|p.G266fs*79(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266G(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7577142	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.517	ENSG00000141510	16131	g.chr17:7577142C>T	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.G266R(NCO2-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.G266R(NCO2-Tumor)	690	75.295093	KEEP	7	18	-1	11	16	7	18	-1	75.312631	11	16	0.48	1	0	0	0	0	1	0	0	0	0	neutral	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	T			TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.G266R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G134R|TP53_uc010cng.1_Missense_Mutation_p.G134R|TP53_uc002gii.1_Missense_Mutation_p.G134R|TP53_uc010cnh.1_Missense_Mutation_p.G266R|TP53_uc010cni.1_Missense_Mutation_p.G266R|TP53_uc002gij.2_Missense_Mutation_p.G266R	45	GBM-06-0195-TP	p.G266R	C	CTGTTCCGTCCCAGTAGATTA	NM_001126112	NP_001119584	7577142	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	990	-	T	T		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	266		G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> A (in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	7157	broad.mit.edu	GRCh37	17	7578512	7578513	+	frameshift_variant	Frame_Shift_Del	DEL	TC	TC	-			TCGA-06-0221-01	TCGA-06-0221-01	TC	TC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.417_418del	p.Lys139AsnfsTer9	p.K139Nfs*9	ENST00000269305	NM_001126112.2	139	aaGAcc/aacc	0			1			-	KT/NX	uc002gim.2	protein_coding	YES	CCDS11118.1		111	417-418/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.K139N(8)|p.K139K(7)|p.0?(7)|p.K139fs*31(4)|p.K139fs*9(3)|p.K139Q(2)|p.K139R(2)|p.K139E(2)|p.N131fs*27(2)|p.K139*(2)|p.K139T(1)|p.L137_W146del10(1)|p.K139fs*4(1)|p.F134_T140>S(1)|p.T140fs*9(1)|p.A138_V143delAKTCPV(1)|p.K139fs*11(1)|p.K139fs*10(1)|p.A138_P142delAKTCP(1)|p.T140fs*30(1)|p.Q136_K139delQLAK(1)|p.K139_C141>N(1)|p.C135_T140delCQLAKT(1)|p.K139fs*29(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(415-420)AAGACCfs		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-May									TP53_g.12405_12406del,COSM35650,COSM2151006,COSM2151008,COSM2151010,COSM2151007,COSM2151009	11-May	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7578512_7578513delTC	11998			HIGH								--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Frame_Shift_Del_p.K139fs|TP53_uc002gih.2_Frame_Shift_Del_p.K139fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.K7fs|TP53_uc010cng.1_Frame_Shift_Del_p.K7fs|TP53_uc002gii.1_Frame_Shift_Del_p.K7fs|TP53_uc010cnh.1_Frame_Shift_Del_p.K139fs|TP53_uc010cni.1_Frame_Shift_Del_p.K139fs|TP53_uc002gij.2_Frame_Shift_Del_p.K139fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.K46fs|TP53_uc002gio.2_Frame_Shift_Del_p.K7fs|TP53_uc010vug.1_Frame_Shift_Del_p.K100fs	0,1,1,1,1,1,1	1			p.K139fs	NM_001126112	NP_001119584			0,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		5	611_612	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	139_140		T -> S (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> N (in a sporadic cancer; somatic mutation).|T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		deletion	TP53,frameshift_variant,p.Lys139AsnfsTer9,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,frameshift_variant,p.Lys139AsnfsTer9,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,frameshift_variant,p.Lys139AsnfsTer9,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,frameshift_variant,p.Lys139AsnfsTer9,ENST00000445888,;TP53,frameshift_variant,p.Lys139AsnfsTer9,ENST00000359597,;TP53,frameshift_variant,p.Lys139AsnfsTer9,ENST00000413465,;TP53,frameshift_variant,p.Lys7AsnfsTer9,ENST00000509690,;TP53,frameshift_variant,p.Lys139AsnfsTer9,ENST00000508793,;TP53,frameshift_variant,p.Lys132AsnfsTer9,ENST00000604348,;TP53,frameshift_variant,p.Lys46AsnfsTer9,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	uc002gim.2	c.417_418delGA	607-608/2579	5	5		111	c.417_418delGA	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	DEL	c.(415-420)AAGACCfs	34	34		p.K139N(8)|p.K139K(7)|p.0?(7)|p.K139fs*31(4)|p.K139fs*9(3)|p.K139Q(2)|p.K139R(2)|p.K139E(2)|p.N131fs*27(2)|p.K139*(2)|p.K139T(1)|p.L137_W146del10(1)|p.K139fs*4(1)|p.F134_T140>S(1)|p.T140fs*9(1)|p.A138_V143delAKTCPV(1)|p.K139fs*11(1)|p.K139fs*10(1)|p.A138_P142delAKTCP(1)|p.T140fs*30(1)|p.Q136_K139delQLAK(1)|p.K139_C141>N(1)|p.C135_T140delCQLAKT(1)|p.K139fs*29(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7578513	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.564	ENSG00000141510	16131	g.chr17:7578512_7578513delTC	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.K139fs(HCC1438-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.K139fs(HCC1438-Tumor)	690														0.82	1	1	0	1	0	0	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	-			TP53_uc002gig.1_Frame_Shift_Del_p.K139fs|TP53_uc002gih.2_Frame_Shift_Del_p.K139fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.K7fs|TP53_uc010cng.1_Frame_Shift_Del_p.K7fs|TP53_uc002gii.1_Frame_Shift_Del_p.K7fs|TP53_uc010cnh.1_Frame_Shift_Del_p.K139fs|TP53_uc010cni.1_Frame_Shift_Del_p.K139fs|TP53_uc002gij.2_Frame_Shift_Del_p.K139fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.K46fs|TP53_uc002gio.2_Frame_Shift_Del_p.K7fs|TP53_uc010vug.1_Frame_Shift_Del_p.K100fs	53	GBM-06-0221-TP	p.K139fs	TC	ACAGGGCAGGTCTTGGCCAGTT	NM_001126112	NP_001119584	7578512	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	611_612	-	-	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Frame_Shift_Del	139_140		T -> S (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> N (in a sporadic cancer; somatic mutation).|T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	7157	broad.mit.edu	GRCh37	17	7578265	7578265	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0237-01	TCGA-06-0237-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.584T>C	p.Ile195Thr	p.I195T	ENST00000269305	NM_001126112.2	195	aTc/aCc	0			1			G	I/T	uc002gim.2	protein_coding	YES	CCDS11118.1		111	584/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.I195T(61)|p.I195F(16)|p.I195N(12)|p.0?(7)|p.I195S(4)|p.A189_V197delAPPQHLIRV(4)|p.I195fs*14(3)|p.I195fs*52(3)|p.K164_P219del(1)|p.I195L(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.I195fs*12(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(583-585)ATC>ACC		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-Jun									rs760043106,TP53_g.12653T>C,COSM11089,COSM116924,COSM116921,COSM116922,COSM3421936,COSM1645297,COSM116923	11-Jun	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7578265A>G	11998			MODERATE		3.08	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=I195T	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=I195T	getma.org/?cm=var&var=hg19,17,7578265,A,G&fts=all	I195T	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Missense_Mutation_p.I195T|TP53_uc002gih.2_Missense_Mutation_p.I195T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.I63T|TP53_uc010cng.1_Missense_Mutation_p.I63T|TP53_uc002gii.1_Missense_Mutation_p.I63T|TP53_uc010cnh.1_Missense_Mutation_p.I195T|TP53_uc010cni.1_Missense_Mutation_p.I195T|TP53_uc002gij.2_Missense_Mutation_p.I195T|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.I102T|TP53_uc002gio.2_Missense_Mutation_p.I63T|TP53_uc010vug.1_Missense_Mutation_p.I156T	0,0,1,1,1,1,1,1,1	1		probably_damaging(1)	p.I195T	NM_001126112	NP_001119584		deleterious(0)	0,0,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		6	778	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	195		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|I -> N (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Ile195Thr,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Ile195Thr,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Ile195Thr,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Ile195Thr,ENST00000445888,;TP53,missense_variant,p.Ile195Thr,ENST00000359597,;TP53,missense_variant,p.Ile195Thr,ENST00000413465,;TP53,missense_variant,p.Ile63Thr,ENST00000509690,;TP53,missense_variant,p.Ile102Thr,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,intron_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	uc002gim.2	c.584T>C	774/2579	3	3		111	c.584T>C	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(583-585)ATC>ACC	50	50		p.I195T(61)|p.I195F(16)|p.I195N(12)|p.0?(7)|p.I195S(4)|p.A189_V197delAPPQHLIRV(4)|p.I195fs*14(3)|p.I195fs*52(3)|p.K164_P219del(1)|p.I195L(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.I195fs*12(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7578265	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.552	ENSG00000141510	16131	g.chr17:7578265A>G	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.I195S(SNU1077-Tumor)|p.I195T(KYSE180-Tumor)|p.H193fs(59M-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.I195S(SNU1077-Tumor)|p.I195T(KYSE180-Tumor)|p.H193fs(59M-Tumor)	690	141.049387	KEEP	17	27	-1	26	31	17	27	-1	141.287511	26	31	0.445652	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	G			TP53_uc002gig.1_Missense_Mutation_p.I195T|TP53_uc002gih.2_Missense_Mutation_p.I195T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.I63T|TP53_uc010cng.1_Missense_Mutation_p.I63T|TP53_uc002gii.1_Missense_Mutation_p.I63T|TP53_uc010cnh.1_Missense_Mutation_p.I195T|TP53_uc010cni.1_Missense_Mutation_p.I195T|TP53_uc002gij.2_Missense_Mutation_p.I195T|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.I102T|TP53_uc002gio.2_Missense_Mutation_p.I63T|TP53_uc010vug.1_Missense_Mutation_p.I156T	54	GBM-06-0237-TP	p.I195T	A	TTCCACTCGGATAAGATGCTG	NM_001126112	NP_001119584	7578265	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	778	-	G	G		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	195		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|I -> N (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	7157	broad.mit.edu	GRCh37	17	7577558	7577566	+	inframe_deletion	In_Frame_Del	DEL	GGAACTGTT	GGAACTGTT	-	rs28934573		TCGA-06-0238-01	TCGA-06-0238-01	GGAACTGTT	GGAACTGTT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.715_723del	p.Asn239_Ser241del	p.N239_S241del	ENST00000269305	NM_001126112.2	239	AACAGTTCC/-	0			1			-	NSS/-	uc002gim.2	protein_coding	YES	CCDS11118.1		111	715-723/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.S241F(73)|p.N239D(31)|p.S241C(24)|p.N239S(19)|p.C242fs*5(15)|p.S240G(14)|p.N239fs*25(12)|p.S240R(8)|p.S241fs*6(8)|p.0?(7)|p.S241Y(7)|p.N239Y(6)|p.S241A(6)|p.S240I(6)|p.N239K(6)|p.S241del(5)|p.S241T(5)|p.N239T(4)|p.N239_C242delNSSC(3)|p.S240C(3)|p.S241S(3)|p.S241P(3)|p.N239_S240insX(2)|p.N239fs*8(2)|p.S240S(2)|p.S240T(2)|p.S240fs*7(2)|p.N239_S240delNS(2)|p.S241fs*22(2)|p.C242fs*20(1)|p.C242fs*23(1)|p.Y236_M243delYMCNSSCM(1)|p.N239fs*1(1)|p.N239_S240insN(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.C238_M246delCNSSCMGGM(1)|p.S240P(1)|p.S241_C242insX(1)|p.M237_N239delMCN(1)|p.S240fs*23(1)|p.N239fs*26(1)|p.C238fs*21(1)|p.N239N(1)|p.H233fs*6(1)|p.S241fs*7(1)|p.S240fs*26(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241fs*23(1)|p.S241_G245delSCMGG(1)|p.N239fs*0(1)|p.C238_N239insX(1)|p.N239_C242del(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(715-723)AACAGTTCCdel		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,PROSITE_patterns:PS00348,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-Jul										11-Jul	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7577558_7577566delGGAACTGTT	11998			MODERATE								--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_In_Frame_Del_p.NSS239del|TP53_uc002gih.2_In_Frame_Del_p.NSS239del|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_In_Frame_Del_p.NSS107del|TP53_uc010cng.1_In_Frame_Del_p.NSS107del|TP53_uc002gii.1_In_Frame_Del_p.NSS107del|TP53_uc010cnh.1_In_Frame_Del_p.NSS239del|TP53_uc010cni.1_In_Frame_Del_p.NSS239del|TP53_uc002gij.2_In_Frame_Del_p.NSS239del|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_In_Frame_Del_p.NSS146del|TP53_uc002gio.2_In_Frame_Del_p.NSS107del		1			p.NSS239del	NM_001126112	NP_001119584				P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		7	909_917	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	239_241		S -> A (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		deletion	TP53,inframe_deletion,p.Asn239_Ser241del,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,inframe_deletion,p.Asn239_Ser241del,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,inframe_deletion,p.Asn239_Ser241del,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,inframe_deletion,p.Asn239_Ser241del,ENST00000445888,;TP53,inframe_deletion,p.Asn239_Ser241del,ENST00000359597,;TP53,inframe_deletion,p.Asn239_Ser241del,ENST00000413465,;TP53,inframe_deletion,p.Asn107_Ser109del,ENST00000509690,;TP53,inframe_deletion,p.Asn146_Ser148del,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,downstream_gene_variant,,ENST00000505014,;	uc002gim.2	c.715_723delAACAGTTCC	905-913/2579	5	5		111	c.715_723delAACAGTTCC	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	DEL	c.(715-723)AACAGTTCCdel	60	60		p.S241F(73)|p.N239D(31)|p.S241C(24)|p.N239S(19)|p.C242fs*5(15)|p.S240G(14)|p.N239fs*25(12)|p.S240R(8)|p.S241fs*6(8)|p.0?(7)|p.S241Y(7)|p.N239Y(6)|p.S241A(6)|p.S240I(6)|p.N239K(6)|p.S241del(5)|p.S241T(5)|p.N239T(4)|p.N239_C242delNSSC(3)|p.S240C(3)|p.S241S(3)|p.S241P(3)|p.N239_S240insX(2)|p.N239fs*8(2)|p.S240S(2)|p.S240T(2)|p.S240fs*7(2)|p.N239_S240delNS(2)|p.S241fs*22(2)|p.C242fs*20(1)|p.C242fs*23(1)|p.Y236_M243delYMCNSSCM(1)|p.N239fs*1(1)|p.N239_S240insN(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.C238_M246delCNSSCMGGM(1)|p.S240P(1)|p.S241_C242insX(1)|p.M237_N239delMCN(1)|p.S240fs*23(1)|p.N239fs*26(1)|p.C238fs*21(1)|p.N239N(1)|p.H233fs*6(1)|p.S241fs*7(1)|p.S240fs*26(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241fs*23(1)|p.S241_G245delSCMGG(1)|p.N239fs*0(1)|p.C238_N239insX(1)|p.N239_C242del(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7577566	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.574	ENSG00000141510	16131	g.chr17:7577558_7577566delGGAACTGTT	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.S241Y(DMS53-Tumor)|p.N239D(SNU475-Tumor)|p.N239D(ST486-Tumor)|p.N239D(HUH6-Tumor)|p.S241Y(KMM1-Tumor)|p.S241Y(KALS1-Tumor)|p.S241C(EVSAT-Tumor)|p.S241C(BFTC909-Tumor)|p.S241Y(HCC78-Tumor)|p.S241Y(ES2-Tumor)|p.S241Y(HCT15-Tumor)|p.S240R(NCIH2023-Tumor)|p.C238fs(SW1417-Tumor)|p.S241F(HEC251-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.S241Y(DMS53-Tumor)|p.N239D(SNU475-Tumor)|p.N239D(ST486-Tumor)|p.N239D(HUH6-Tumor)|p.S241Y(KMM1-Tumor)|p.S241Y(KALS1-Tumor)|p.S241C(EVSAT-Tumor)|p.S241C(BFTC909-Tumor)|p.S241Y(HCC78-Tumor)|p.S241Y(ES2-Tumor)|p.S241Y(HCT15-Tumor)|p.S240R(NCIH2023-Tumor)|p.C238fs(SW1417-Tumor)|p.S241F(HEC251-Tumor)	690														0.41	1	1	0	1	0	0	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	-			TP53_uc002gig.1_In_Frame_Del_p.NSS239del|TP53_uc002gih.2_In_Frame_Del_p.NSS239del|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_In_Frame_Del_p.NSS107del|TP53_uc010cng.1_In_Frame_Del_p.NSS107del|TP53_uc002gii.1_In_Frame_Del_p.NSS107del|TP53_uc010cnh.1_In_Frame_Del_p.NSS239del|TP53_uc010cni.1_In_Frame_Del_p.NSS239del|TP53_uc002gij.2_In_Frame_Del_p.NSS239del|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_In_Frame_Del_p.NSS146del|TP53_uc002gio.2_In_Frame_Del_p.NSS107del	55	GBM-06-0238-TP	p.NSS239del	GGAACTGTT	CGCCCATGCAGGAACTGTTACACATGTAG	NM_001126112	NP_001119584	7577558	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	909_917	-	-	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	In_Frame_Del	239_241		S -> A (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).			
TP53	7157	broad.mit.edu	GRCh37	17	7578394	7578394	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0743-01	TCGA-06-0743-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.536A>G	p.His179Arg	p.H179R	ENST00000269305	NM_001126112.2	179	cAt/cGt	0			1			C	H/R	uc002gim.2	protein_coding	YES	CCDS11118.1		111	536/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.H179R(99)|p.H179Y(74)|p.H179L(31)|p.H179Q(17)|p.H179N(13)|p.H179D(10)|p.P177_C182delPHHERC(8)|p.0?(7)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.R175_E180delRCPHHE(3)|p.H179fs*68(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(535-537)CAT>CGT		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-May									TP53_g.12524A>G,COSM10889,COSM214223,COSM214222,COSM214224,COSM3396280,COSM1645241,COSM214225	11-May	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7578394T>C	11998			MODERATE		3.315	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=H179R	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=H179R	getma.org/?cm=var&var=hg19,17,7578394,T,C&fts=all	H179R	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.2_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.1_Missense_Mutation_p.H140R	0,1,1,1,1,1,1,1	1		probably_damaging(1)	p.H179R	NM_001126112	NP_001119584		deleterious(0)	0,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		5	730	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	179		H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	SNV	TP53,missense_variant,p.His179Arg,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.His179Arg,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.His179Arg,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.His179Arg,ENST00000445888,;TP53,missense_variant,p.His179Arg,ENST00000359597,;TP53,missense_variant,p.His179Arg,ENST00000413465,;TP53,missense_variant,p.His47Arg,ENST00000509690,;TP53,missense_variant,p.His86Arg,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,non_coding_transcript_exon_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	uc002gim.2	c.536A>G	726/2579	4	4		111	c.536A>G	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(535-537)CAT>CGT	35	35		p.H179R(99)|p.H179Y(74)|p.H179L(31)|p.H179Q(17)|p.H179N(13)|p.H179D(10)|p.P177_C182delPHHERC(8)|p.0?(7)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.R175_E180delRCPHHE(3)|p.H179fs*68(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7578394	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.642	ENSG00000141510	16131	g.chr17:7578394T>C	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.H179R(HS729-Tumor)|p.H179R(NCIH1568-Tumor)|p.H179R(YAPC-Tumor)|p.R174fs(THP1-Tumor)|p.H179R(KM12-Tumor)|p.H179R(KYSE450-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.H179R(HS729-Tumor)|p.H179R(NCIH1568-Tumor)|p.H179R(YAPC-Tumor)|p.R174fs(THP1-Tumor)|p.H179R(KM12-Tumor)|p.H179R(KYSE450-Tumor)	690	81.80037	KEEP	15	18	-1	30	36	15	18	-1	84.04603	30	36	0.325301	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	C			TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.2_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.1_Missense_Mutation_p.H140R	65	GBM-06-0743-TP	p.H179R	T	GCAGCGCTCATGGTGGGGGCA	NM_001126112	NP_001119584	7578394	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	730	-	C	C		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	179		H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.		
TP53	7157	broad.mit.edu	GRCh37	17	7578394	7578394	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0744-01	TCGA-06-0744-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.536A>G	p.His179Arg	p.H179R	ENST00000269305	NM_001126112.2	179	cAt/cGt	0			1			C	H/R	uc002gim.2	protein_coding	YES	CCDS11118.1		111	536/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.H179R(99)|p.H179Y(74)|p.H179L(31)|p.H179Q(17)|p.H179N(13)|p.H179D(10)|p.P177_C182delPHHERC(8)|p.0?(7)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.R175_E180delRCPHHE(3)|p.H179fs*68(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(535-537)CAT>CGT		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-May									TP53_g.12524A>G,COSM10889,COSM214223,COSM214222,COSM214224,COSM3396280,COSM1645241,COSM214225	11-May	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7578394T>C	11998			MODERATE		3.315	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=H179R	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=H179R	getma.org/?cm=var&var=hg19,17,7578394,T,C&fts=all	H179R	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.2_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.1_Missense_Mutation_p.H140R	0,1,1,1,1,1,1,1	1		probably_damaging(1)	p.H179R	NM_001126112	NP_001119584		deleterious(0)	0,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		5	730	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	179		H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	SNV	TP53,missense_variant,p.His179Arg,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.His179Arg,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.His179Arg,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.His179Arg,ENST00000445888,;TP53,missense_variant,p.His179Arg,ENST00000359597,;TP53,missense_variant,p.His179Arg,ENST00000413465,;TP53,missense_variant,p.His47Arg,ENST00000509690,;TP53,missense_variant,p.His86Arg,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,non_coding_transcript_exon_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	uc002gim.2	c.536A>G	726/2579	4	4		111	c.536A>G	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(535-537)CAT>CGT	35	35		p.H179R(99)|p.H179Y(74)|p.H179L(31)|p.H179Q(17)|p.H179N(13)|p.H179D(10)|p.P177_C182delPHHERC(8)|p.0?(7)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.R175_E180delRCPHHE(3)|p.H179fs*68(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7578394	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.642	ENSG00000141510	16131	g.chr17:7578394T>C	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.H179R(HS729-Tumor)|p.H179R(NCIH1568-Tumor)|p.H179R(YAPC-Tumor)|p.R174fs(THP1-Tumor)|p.H179R(KM12-Tumor)|p.H179R(KYSE450-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.H179R(HS729-Tumor)|p.H179R(NCIH1568-Tumor)|p.H179R(YAPC-Tumor)|p.R174fs(THP1-Tumor)|p.H179R(KM12-Tumor)|p.H179R(KYSE450-Tumor)	690	133.06813	KEEP	27	22	-1	27	24	27	22	-1	133.078547	27	24	0.488095	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	C			TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.2_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.1_Missense_Mutation_p.H140R	66	GBM-06-0744-TP	p.H179R	T	GCAGCGCTCATGGTGGGGGCA	NM_001126112	NP_001119584	7578394	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	730	-	C	C		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	179		H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.		
TP53	7157	broad.mit.edu	GRCh37	17	7577094	7577094	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-06-0875-01	TCGA-06-0875-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.844C>T	p.Arg282Trp	p.R282W	ENST00000269305	NM_001126112.2	282	Cgg/Tgg	0			1			A	R/W	uc002gim.2	protein_coding	YES	CCDS11118.1		111	844/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	likely_benign,pathogenic		p.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(844-846)CGG>TGG		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-Aug									rs28934574,TP53_g.13824C>T,COSM10704,COSM99925,COSM3378339,COSM1636702	11-Aug	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7577094G>A	11998			MODERATE		3.075	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=R282W	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=R282W	getma.org/?cm=var&var=hg19,17,7577094,G,A&fts=all	R282W	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W	1,0,1,1,1,1	1	251,056,602,540,450,000,000,000	probably_damaging(0.997)	p.R282W	NM_001126112	NP_001119584		deleterious(0)	0,0,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		8	1038	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	282		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Arg282Trp,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Arg282Trp,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Arg282Trp,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Arg282Trp,ENST00000445888,;TP53,missense_variant,p.Arg282Trp,ENST00000359597,;TP53,missense_variant,p.Arg150Trp,ENST00000509690,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,downstream_gene_variant,,ENST00000505014,;	uc002gim.2	c.844C>T	1034/2579	1	1		111	c.844C>T	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(844-846)CGG>TGG	55	55		p.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7577094	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.557	ENSG00000141510	16131	g.chr17:7577094G>A	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.R282G(NCIH510-Tumor)|p.R282W(HUPT3-Tumor)|p.V274fs(SCC9-Tumor)|p.R282W(CAL29-Tumor)|p.R282W(EFE184-Tumor)|p.R282W(OVKATE-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.R282G(NCIH510-Tumor)|p.R282W(HUPT3-Tumor)|p.V274fs(SCC9-Tumor)|p.R282W(CAL29-Tumor)|p.R282W(EFE184-Tumor)|p.R282W(OVKATE-Tumor)	690	123.43687	KEEP	15	23	-1	17	7	15	23	-1	123.884994	17	7	0.59322	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	A			TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W	71	GBM-06-0875-TP	p.R282W	G	TCTGTGCGCCGGTCTCTCCCA	NM_001126112	NP_001119584	7577094	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1038	-	A	A		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	282		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	7157	broad.mit.edu	GRCh37	17	7577539	7577539	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-06-0876-01	TCGA-06-0876-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.742C>T	p.Arg248Trp	p.R248W	ENST00000269305	NM_001126112.2	248	Cgg/Tgg	0			1			A	R/W	uc002gim.2	protein_coding	YES	CCDS11118.1	R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO680N_OESOPHAGUS)|R248W(SW837_LARGE_INTESTINE)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(RD_SOFT_TISSUE)|R248W(VCAP_PROSTATE)|R248W(JIMT1_BREAST)|R248W(GCT_SOFT_TISSUE)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(786O_KIDNEY)|R248W(COLO320_LARGE_INTESTINE)|R248W(LXF289_LUNG)|R248W(LUDLU1_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(HCC2157_BREAST)	111	742/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	pathogenic		p.R248Q(516)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(742-744)CGG>TGG		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,PROSITE_patterns:PS00348,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-Jul									rs121912651,TP53_g.13379C>T,COSM10656,COSM120007,COSM120005,COSM3388183,COSM1640831,COSM120006	11-Jul	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7577539G>A	11998			MODERATE		3.315	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=R248W	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=R248W	getma.org/?cm=var&var=hg19,17,7577539,G,A&fts=all	R248W	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.2_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W	1,0,1,1,1,1,1,1	1		probably_damaging(1)	p.R248W	NM_001126112	NP_001119584		deleterious(0)	0,0,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		7	936	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	248		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Arg248Trp,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Arg248Trp,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Arg248Trp,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Arg248Trp,ENST00000445888,;TP53,missense_variant,p.Arg248Trp,ENST00000359597,;TP53,missense_variant,p.Arg248Trp,ENST00000413465,;TP53,missense_variant,p.Arg116Trp,ENST00000509690,;TP53,missense_variant,p.Arg155Trp,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,downstream_gene_variant,,ENST00000505014,;	uc002gim.2	c.742C>T	932/2579	2	2	R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO680N_OESOPHAGUS)|R248W(SW837_LARGE_INTESTINE)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(RD_SOFT_TISSUE)|R248W(VCAP_PROSTATE)|R248W(JIMT1_BREAST)|R248W(GCT_SOFT_TISSUE)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(786O_KIDNEY)|R248W(COLO320_LARGE_INTESTINE)|R248W(LXF289_LUNG)|R248W(LUDLU1_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(HCC2157_BREAST)	111	c.742C>T	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(742-744)CGG>TGG	45	45		p.R248Q(516)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7577539	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.577	ENSG00000141510	16131	g.chr17:7577539G>A	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.R248W(SW837-Tumor)|p.R248W(786O-Tumor)|p.R248W(LUDLU1-Tumor)|p.R248W(VCAP-Tumor)|p.R248*(DB-Tumor)|p.R248W(MIAPACA2-Tumor)|p.R248W(HCC2157-Tumor)|p.R248W(LXF289-Tumor)|p.R248G(8505C-Tumor)|p.R248A(SF126-Tumor)|p.R248W(SET2-Tumor)|p.R248W(KO52-Tumor)|p.R248W(SNU1040-Tumor)|p.R248W(GCT-Tumor)|p.R248W(JIMT1-Tumor)|p.R248W(COLO320-Tumor)|p.R248W(CAS1-Tumor)|p.R248W(NCIH2106-Tumor)|p.R248W(SNUC5-Tumor)|p.R248W(COLO680N-Tumor)|p.R248W(RD-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.R248W(SW837-Tumor)|p.R248W(786O-Tumor)|p.R248W(LUDLU1-Tumor)|p.R248W(VCAP-Tumor)|p.R248*(DB-Tumor)|p.R248W(MIAPACA2-Tumor)|p.R248W(HCC2157-Tumor)|p.R248W(LXF289-Tumor)|p.R248G(8505C-Tumor)|p.R248A(SF126-Tumor)|p.R248W(SET2-Tumor)|p.R248W(KO52-Tumor)|p.R248W(SNU1040-Tumor)|p.R248W(GCT-Tumor)|p.R248W(JIMT1-Tumor)|p.R248W(COLO320-Tumor)|p.R248W(CAS1-Tumor)|p.R248W(NCIH2106-Tumor)|p.R248W(SNUC5-Tumor)|p.R248W(COLO680N-Tumor)|p.R248W(RD-Tumor)	690	77.140044	KEEP	21	8	-1	31	19	21	8	-1	78.253874	31	19	0.366197	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	A			TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.2_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W	72	GBM-06-0876-TP	p.R248W	G	ATGGGCCTCCGGTTCATGCCG	NM_001126112	NP_001119584	7577539	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	936	-	A	A		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	248		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).			
TP53	7157	broad.mit.edu	GRCh37	17	7577097	7577097	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-2558-01	TCGA-06-2558-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.841G>C	p.Asp281His	p.D281H	ENST00000269305	NM_001126112.2	281	Gac/Cac	0			1			G	D/H	uc002gim.2	protein_coding	YES	CCDS11118.1		111	841/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.D281E(25)|p.D281H(19)|p.D281N(18)|p.D281G(10)|p.0?(7)|p.D281Y(6)|p.D281D(5)|p.D281V(3)|p.D281fs*63(2)|p.?(2)|p.R280_D281delRD(2)|p.D281A(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281_R282delDR(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(841-843)GAC>CAC		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-Aug									TP53_g.13821G>C,COSM10943,COSM1158315,COSM3388352,COSM2152580	11-Aug	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7577097C>G	11998			MODERATE		3.33	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=D281H	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=D281H	getma.org/?cm=var&var=hg19,17,7577097,C,G&fts=all	D281H	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.D281H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.D149H|TP53_uc010cng.1_Missense_Mutation_p.D149H|TP53_uc002gii.1_Missense_Mutation_p.D149H|TP53_uc010cnh.1_Missense_Mutation_p.D281H|TP53_uc010cni.1_Missense_Mutation_p.D281H|TP53_uc002gij.2_Missense_Mutation_p.D281H	0,1,1,1,1	1		probably_damaging(0.998)	p.D281H	NM_001126112	NP_001119584		tolerated(0.07)	0,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		8	1035	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	281		D -> Y (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> A (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Asp281His,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Asp281His,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Asp281His,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Asp281His,ENST00000445888,;TP53,missense_variant,p.Asp281His,ENST00000359597,;TP53,missense_variant,p.Asp149His,ENST00000509690,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,downstream_gene_variant,,ENST00000505014,;	uc002gim.2	c.841G>C	1031/2579	3	3		111	c.841G>C	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(841-843)GAC>CAC	11	11		p.D281E(25)|p.D281H(19)|p.D281N(18)|p.D281G(10)|p.0?(7)|p.D281Y(6)|p.D281D(5)|p.D281V(3)|p.D281fs*63(2)|p.?(2)|p.R280_D281delRD(2)|p.D281A(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281_R282delDR(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7577097	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.547	ENSG00000141510	16131	g.chr17:7577097C>G	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.D281Y(KURAMOCHI-Tumor)|p.V274fs(SCC9-Tumor)|p.D281N(SNU201-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.D281Y(KURAMOCHI-Tumor)|p.V274fs(SCC9-Tumor)|p.D281N(SNU201-Tumor)	690	121.36511	KEEP	20	18	-1	8	12	20	18	-1	122.452186	8	12	0.653846	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	G			TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.D281H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.D149H|TP53_uc010cng.1_Missense_Mutation_p.D149H|TP53_uc002gii.1_Missense_Mutation_p.D149H|TP53_uc010cnh.1_Missense_Mutation_p.D281H|TP53_uc010cni.1_Missense_Mutation_p.D281H|TP53_uc002gij.2_Missense_Mutation_p.D281H	82	GBM-06-2558-TP	p.D281H	C	GTGCGCCGGTCTCTCCCAGGA	NM_001126112	NP_001119584	7577097	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1035	-	G	G		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	281		D -> Y (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> A (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	7157	broad.mit.edu	GRCh37	17	7578280	7578280	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01	TCGA-06-2559-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.569C>T	p.Pro190Leu	p.P190L	ENST00000269305	NM_001126112.2	190	cCt/cTt	0			1			A	P/L	uc002gim.2	protein_coding	YES	CCDS11118.1		111	569/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.P190L(21)|p.P190fs*57(8)|p.0?(7)|p.P190del(6)|p.P190S(6)|p.P190T(4)|p.A189_V197delAPPQHLIRV(4)|p.G187fs*16(2)|p.P190A(2)|p.P190R(2)|p.K164_P219del(1)|p.P58fs*>33(1)|p.A189_Q192>E(1)|p.P191fs*18(1)|p.P190fs*19(1)|p.D186_P191delDGLAPP(1)|p.?(1)|p.A189fs*53(1)|p.P190H(1)|p.P190P(1)|p.L188_P191del(1)|p.P97fs*57(1)|p.A189_P190>X(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(568-570)CCT>CTT		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-Jun									TP53_g.12638C>T,COSM43657,COSM1386772,COSM1386773,COSM1386775,COSM3356968,COSM2152692,COSM1386774	11-Jun	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7578280G>A	11998			MODERATE		2.085	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=P190L	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=P190L	getma.org/?cm=var&var=hg19,17,7578280,G,A&fts=all	P190L	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Missense_Mutation_p.P190L|TP53_uc002gih.2_Missense_Mutation_p.P190L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P58L|TP53_uc010cng.1_Missense_Mutation_p.P58L|TP53_uc002gii.1_Missense_Mutation_p.P58L|TP53_uc010cnh.1_Missense_Mutation_p.P190L|TP53_uc010cni.1_Missense_Mutation_p.P190L|TP53_uc002gij.2_Missense_Mutation_p.P190L|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.P97L|TP53_uc002gio.2_Missense_Mutation_p.P58L|TP53_uc010vug.1_Missense_Mutation_p.P151L	0,1,1,1,1,1,1,1	1		possibly_damaging(0.812)	p.P190L	NM_001126112	NP_001119584		deleterious(0.05)	0,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		6	763	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	190		P -> R (in sporadic cancers; somatic mutation).|P -> H (in a sporadic cancer; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Pro190Leu,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Pro190Leu,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Pro190Leu,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Pro190Leu,ENST00000445888,;TP53,missense_variant,p.Pro190Leu,ENST00000359597,;TP53,missense_variant,p.Pro190Leu,ENST00000413465,;TP53,missense_variant,p.Pro58Leu,ENST00000509690,;TP53,missense_variant,p.Pro97Leu,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,intron_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	uc002gim.2	c.569C>T	759/2579	1	1		111	c.569C>T	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(568-570)CCT>CTT	51	51		p.P190L(21)|p.P190fs*57(8)|p.0?(7)|p.P190del(6)|p.P190S(6)|p.P190T(4)|p.A189_V197delAPPQHLIRV(4)|p.G187fs*16(2)|p.P190A(2)|p.P190R(2)|p.K164_P219del(1)|p.P58fs*>33(1)|p.A189_Q192>E(1)|p.P191fs*18(1)|p.P190fs*19(1)|p.D186_P191delDGLAPP(1)|p.?(1)|p.A189fs*53(1)|p.P190H(1)|p.P190P(1)|p.L188_P191del(1)|p.P97fs*57(1)|p.A189_P190>X(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7578280	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.552	ENSG00000141510	16131	g.chr17:7578280G>A	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.PPQH190del(JHH5-Tumor)|p.P190L(SNU1033-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.PPQH190del(JHH5-Tumor)|p.P190L(SNU1033-Tumor)	690	112.040766	KEEP	17	20	-1	19	27	17	20	-1	112.146887	19	27	0.459459	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	A			TP53_uc002gig.1_Missense_Mutation_p.P190L|TP53_uc002gih.2_Missense_Mutation_p.P190L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P58L|TP53_uc010cng.1_Missense_Mutation_p.P58L|TP53_uc002gii.1_Missense_Mutation_p.P58L|TP53_uc010cnh.1_Missense_Mutation_p.P190L|TP53_uc010cni.1_Missense_Mutation_p.P190L|TP53_uc002gij.2_Missense_Mutation_p.P190L|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.P97L|TP53_uc002gio.2_Missense_Mutation_p.P58L|TP53_uc010vug.1_Missense_Mutation_p.P151L	83	GBM-06-2559-TP	p.P190L	G	ATGCTGAGGAGGGGCCAGACC	NM_001126112	NP_001119584	7578280	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	763	-	A	A		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	190		P -> R (in sporadic cancers; somatic mutation).|P -> H (in a sporadic cancer; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	7157	broad.mit.edu	GRCh37	17	7578466	7578466	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-2559-01	TCGA-06-2559-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.464C>A	p.Thr155Asn	p.T155N	ENST00000269305	NM_001126112.2	155	aCc/aAc	0			1			T	T/N	uc002gim.2	protein_coding	YES	CCDS11118.1		111	464/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.T155N(19)|p.T155P(14)|p.T155I(10)|p.0?(7)|p.T155A(7)|p.T155T(5)|p.P152fs*14(3)|p.G154fs*14(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.T155S(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.T155fs*26(1)|p.T155fs*25(1)|p.R156_A161del(1)|p.D148_T155delDSTPPPGT(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.T155fs*15(1)|p.R156fs*25(1)|p.T155_R156delTR(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(463-465)ACC>AAC		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-May									TP53_g.12452C>A,COSM11218,COSM213311,COSM213310,COSM213312,COSM3403277,COSM2152706,COSM213313	11-May	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7578466G>T	11998			MODERATE		2.33	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=T155N	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=T155N	getma.org/?cm=var&var=hg19,17,7578466,G,T&fts=all	T155N	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Missense_Mutation_p.T155N|TP53_uc002gih.2_Missense_Mutation_p.T155N|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.T23N|TP53_uc010cng.1_Missense_Mutation_p.T23N|TP53_uc002gii.1_Missense_Mutation_p.T23N|TP53_uc010cnh.1_Missense_Mutation_p.T155N|TP53_uc010cni.1_Missense_Mutation_p.T155N|TP53_uc002gij.2_Missense_Mutation_p.T155N|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.T62N|TP53_uc002gio.2_Missense_Mutation_p.T23N|TP53_uc010vug.1_Missense_Mutation_p.T116N	0,1,1,1,1,1,1,1	1		possibly_damaging(0.731)	p.T155N	NM_001126112	NP_001119584		deleterious(0.01)	0,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		5	658	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	155		T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Thr155Asn,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Thr155Asn,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Thr155Asn,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Thr155Asn,ENST00000445888,;TP53,missense_variant,p.Thr155Asn,ENST00000359597,;TP53,missense_variant,p.Thr155Asn,ENST00000413465,;TP53,missense_variant,p.Thr23Asn,ENST00000509690,;TP53,missense_variant,p.Thr155Asn,ENST00000508793,;TP53,missense_variant,p.Thr62Asn,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	uc002gim.2	c.464C>A	654/2579	2	2		111	c.464C>A	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(463-465)ACC>AAC	43	43		p.T155N(19)|p.T155P(14)|p.T155I(10)|p.0?(7)|p.T155A(7)|p.T155T(5)|p.P152fs*14(3)|p.G154fs*14(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.T155S(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.T155fs*26(1)|p.T155fs*25(1)|p.R156_A161del(1)|p.D148_T155delDSTPPPGT(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.T155fs*15(1)|p.R156fs*25(1)|p.T155_R156delTR(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7578466	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.612	ENSG00000141510	16131	g.chr17:7578466G>T	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.P152fs(RH41-Tumor)|p.T155N(NCIH524-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.P152fs(RH41-Tumor)|p.T155N(NCIH524-Tumor)	690	109.257782	KEEP	25	16	0.609756098	24	31	25	16	0.609756098	109.743904	24	31	0.420455	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	T			TP53_uc002gig.1_Missense_Mutation_p.T155N|TP53_uc002gih.2_Missense_Mutation_p.T155N|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.T23N|TP53_uc010cng.1_Missense_Mutation_p.T23N|TP53_uc002gii.1_Missense_Mutation_p.T23N|TP53_uc010cnh.1_Missense_Mutation_p.T155N|TP53_uc010cni.1_Missense_Mutation_p.T155N|TP53_uc002gij.2_Missense_Mutation_p.T155N|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.T62N|TP53_uc002gio.2_Missense_Mutation_p.T23N|TP53_uc010vug.1_Missense_Mutation_p.T116N	83	GBM-06-2559-TP	p.T155N	G	GCGGACGCGGGTGCCGGGCGG	NM_001126112	NP_001119584	7578466	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	658	-	T	T		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	155		T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	7157	broad.mit.edu	GRCh37	17	7578541	7578541	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-2563-01	TCGA-06-2563-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.389T>C	p.Leu130Pro	p.L130P	ENST00000269305	NM_001126112.2	130	cTc/cCc	0			1			G	L/P	uc002gim.2	protein_coding	YES	CCDS11118.1		111	389/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.L130V(11)|p.L130F(7)|p.L130R(7)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.L130L(4)|p.L130H(3)|p.Y126_N131delYSPALN(3)|p.L130fs*19(2)|p.N131fs*27(2)|p.L130fs*41(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.A129_L130insXX(1)|p.A129_N131delALN(1)|p.L130P(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.L130fs*39(1)|p.L130fs*16(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.L130fs*40(1)|p.S127fs*36(1)|p.L130del(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(388-390)CTC>CCC		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-May									TP53_g.12377T>C,COSM45481,COSM2152865,COSM2152867,COSM3403292,COSM2152866,COSM2152868	11-May	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7578541A>G	11998			MODERATE		3.195	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=L130P	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=L130P	getma.org/?cm=var&var=hg19,17,7578541,A,G&fts=all	L130P	2.975	medium	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Missense_Mutation_p.L130P|TP53_uc002gih.2_Missense_Mutation_p.L130P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.L130P|TP53_uc010cni.1_Missense_Mutation_p.L130P|TP53_uc002gij.2_Missense_Mutation_p.L130P|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.L37P|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.L91P	0,1,1,1,1,1,1	1		probably_damaging(1)	p.L130P	NM_001126112	NP_001119584		deleterious(0)	0,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		5	583	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	130		L -> H (in sporadic cancers; somatic mutation).|L -> F (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Leu130Pro,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Leu130Pro,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Leu130Pro,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Leu130Pro,ENST00000445888,;TP53,missense_variant,p.Leu130Pro,ENST00000359597,;TP53,missense_variant,p.Leu130Pro,ENST00000413465,;TP53,missense_variant,p.Leu130Pro,ENST00000508793,;TP53,missense_variant,p.Leu37Pro,ENST00000514944,;TP53,splice_region_variant,,ENST00000604348,;TP53,5_prime_UTR_variant,,ENST00000509690,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	uc002gim.2	c.389T>C	579/2579	3	3		111	c.389T>C	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(388-390)CTC>CCC	13	13		p.L130V(11)|p.L130F(7)|p.L130R(7)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.L130L(4)|p.L130H(3)|p.Y126_N131delYSPALN(3)|p.L130fs*19(2)|p.N131fs*27(2)|p.L130fs*41(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.A129_L130insXX(1)|p.A129_N131delALN(1)|p.L130P(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.L130fs*39(1)|p.L130fs*16(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.L130fs*40(1)|p.S127fs*36(1)|p.L130del(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7578541	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.557	ENSG00000141510	16131	g.chr17:7578541A>G	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)		690	Pancreas(47;798 1329 9957 10801)		690	55.791733	KEEP	9	7	-1	11	18	9	7	-1	56.224141	11	18	0.390244	1	0	0	0	0	1	0	0	0	2.975	medium	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	G			TP53_uc002gig.1_Missense_Mutation_p.L130P|TP53_uc002gih.2_Missense_Mutation_p.L130P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.L130P|TP53_uc010cni.1_Missense_Mutation_p.L130P|TP53_uc002gij.2_Missense_Mutation_p.L130P|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.L37P|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.L91P	86	GBM-06-2563-TP	p.L130P	A	CATCTTGTTGAGGGCAGGGGA	NM_001126112	NP_001119584	7578541	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	583	-	G	G		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	130		L -> H (in sporadic cancers; somatic mutation).|L -> F (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	7157	broad.mit.edu	GRCh37	17	7577127	7577127	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01	TCGA-06-2567-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.811G>A	p.Glu271Lys	p.E271K	ENST00000269305	NM_001126112.2	271	Gag/Aag	0			1			T	E/K	uc002gim.2	protein_coding	YES	CCDS11118.1		111	811/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.E271K(22)|p.E271*(14)|p.0?(7)|p.E271V(5)|p.E271Q(3)|p.E271G(3)|p.E271D(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.E271E(2)|p.E271fs*73(1)|p.E258fs*71(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.E271P(1)|p.E271del(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(811-813)GAG>AAG		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-Aug									TP53_g.13791G>A,COSM10719,COSM254988,COSM3403256,COSM1646807	11-Aug	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7577127C>T	11998			MODERATE		2.65	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=E271K	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=E271K	getma.org/?cm=var&var=hg19,17,7577127,C,T&fts=all	E271K	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E271K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E139K|TP53_uc010cng.1_Missense_Mutation_p.E139K|TP53_uc002gii.1_Missense_Mutation_p.E139K|TP53_uc010cnh.1_Missense_Mutation_p.E271K|TP53_uc010cni.1_Missense_Mutation_p.E271K|TP53_uc002gij.2_Missense_Mutation_p.E271K	0,1,1,1,1	1		probably_damaging(0.999)	p.E271K	NM_001126112	NP_001119584		deleterious(0)	0,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		8	1005	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	271		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> A (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Glu271Lys,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Glu271Lys,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Glu271Lys,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Glu271Lys,ENST00000445888,;TP53,missense_variant,p.Glu271Lys,ENST00000359597,;TP53,missense_variant,p.Glu139Lys,ENST00000509690,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,downstream_gene_variant,,ENST00000505014,;	uc002gim.2	c.811G>A	1001/2579	2	2		111	c.811G>A	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(811-813)GAG>AAG	25	25		p.E271K(22)|p.E271*(14)|p.0?(7)|p.E271V(5)|p.E271Q(3)|p.E271G(3)|p.E271D(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.E271E(2)|p.E271fs*73(1)|p.E258fs*71(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.E271P(1)|p.E271del(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7577127	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.537	ENSG00000141510	16131	g.chr17:7577127C>T	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.E271K(HUH28-Tumor)|p.F270fs(EFM192A-Tumor)|p.E271K(J82-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.E271K(HUH28-Tumor)|p.F270fs(EFM192A-Tumor)|p.E271K(J82-Tumor)	690	31.255293	KEEP	8	6	-1	18	20	8	6	-1	33.693147	18	20	0.265306	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	T			TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E271K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E139K|TP53_uc010cng.1_Missense_Mutation_p.E139K|TP53_uc002gii.1_Missense_Mutation_p.E139K|TP53_uc010cnh.1_Missense_Mutation_p.E271K|TP53_uc010cni.1_Missense_Mutation_p.E271K|TP53_uc002gij.2_Missense_Mutation_p.E271K	89	GBM-06-2567-TP	p.E271K	C	ACACGCACCTCAAAGCTGTTC	NM_001126112	NP_001119584	7577127	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1005	-	T	T		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	271		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> A (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	7157	broad.mit.edu	GRCh37	17	7578263	7578263	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-2567-01	TCGA-06-2567-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.586C>T	p.Arg196Ter	p.R196*	ENST00000269305	NM_001126112.2	196	Cga/Tga	0			1			A	R/*	uc002gim.2	protein_coding	YES	CCDS11118.1		111	586/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	pathogenic		p.R196*(125)|p.R196P(12)|p.0?(7)|p.R196R(5)|p.R196fs*51(4)|p.A189_V197delAPPQHLIRV(4)|p.R196Q(3)|p.K164_P219del(1)|p.R196L(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.R64*(1)|p.I195fs*12(1)|p.R103*(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(586-588)CGA>TGA		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-Jun									rs397516435,TP53_g.12655C>T,COSM10705,COSM99668,COSM99665,COSM99666,COSM3378446,COSM1640847,COSM99667	11-Jun	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7578263G>A	11998			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,17,7578263,G,A&fts=all	R196*	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.2_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.1_Nonsense_Mutation_p.R157*	1,0,1,1,1,1,1,1,1	1			p.R196*	NM_001126112	NP_001119584			0,0,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		6	780	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	196		R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,stop_gained,p.Arg196Ter,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,stop_gained,p.Arg196Ter,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,stop_gained,p.Arg196Ter,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,stop_gained,p.Arg196Ter,ENST00000445888,;TP53,stop_gained,p.Arg196Ter,ENST00000359597,;TP53,stop_gained,p.Arg196Ter,ENST00000413465,;TP53,stop_gained,p.Arg64Ter,ENST00000509690,;TP53,stop_gained,p.Arg103Ter,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,intron_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	uc002gim.2	c.586C>T	776/2579	5	2		111	c.586C>T	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(586-588)CGA>TGA	17	17		p.R196*(125)|p.R196P(12)|p.0?(7)|p.R196R(5)|p.R196fs*51(4)|p.A189_V197delAPPQHLIRV(4)|p.R196Q(3)|p.K164_P219del(1)|p.R196L(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.R64*(1)|p.I195fs*12(1)|p.R103*(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7578263	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.552	ENSG00000141510	16131	g.chr17:7578263G>A	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.R196*(P31FUJ-Tumor)|p.R196*(CALU6-Tumor)|p.R196*(HUT78-Tumor)|p.H193fs(59M-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.R196*(P31FUJ-Tumor)|p.R196*(CALU6-Tumor)|p.R196*(HUT78-Tumor)|p.H193fs(59M-Tumor)	690	114.574857	KEEP	19	21	-1	30	36	19	21	-1	115.990105	30	36	0.371134	1	0	0	0	0	0	1	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	A			TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.2_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.1_Nonsense_Mutation_p.R157*	89	GBM-06-2567-TP	p.R196*	G	CCTTCCACTCGGATAAGATGC	NM_001126112	NP_001119584	7578263	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	780	-	A	A		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Nonsense_Mutation	196		R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	7157	broad.mit.edu	GRCh37	17	7578456	7578467	+	inframe_deletion	In_Frame_Del	DEL	GCGGACGCGGGT	GCGGACGCGGGT	-	rs139200646;rs121912654		TCGA-06-2569-01	TCGA-06-2569-01	GCGGACGCGGGT	GCGGACGCGGGT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.463_474del	p.Thr155_Arg158del	p.T155_R158del	ENST00000269305	NM_001126112.2	155	ACCCGCGTCCGC/-	0			1			-	TRVR/-	uc002gim.2	protein_coding	YES	CCDS11118.1		111	463-474/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.V157F(139)|p.R158H(58)|p.R158L(55)|p.R156P(24)|p.T155N(19)|p.R158C(17)|p.T155P(14)|p.T155I(10)|p.V157I(10)|p.R156H(10)|p.R158G(10)|p.R158P(9)|p.V157D(8)|p.R156fs*14(8)|p.T155A(7)|p.V157G(7)|p.0?(7)|p.V157L(6)|p.R158R(6)|p.V157V(5)|p.T155T(5)|p.R158fs*12(5)|p.P152fs*14(4)|p.R158_A159insX(4)|p.V157fs*13(3)|p.R156R(3)|p.R156S(3)|p.R156fs*25(3)|p.R156L(3)|p.R156G(3)|p.T155S(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.G154fs*14(2)|p.R158fs*11(2)|p.R156C(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.A159fs*11(1)|p.R65L(1)|p.D148fs*23(1)|p.V157A(1)|p.A159fs*21(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.T155fs*25(1)|p.R156_A161del(1)|p.D148_T155delDSTPPPGT(1)|p.G154_R156delGTR(1)|p.V157_M160delVRAM(1)|p.R156fs*12(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.R158_A159insXX(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156del(1)|p.T155fs*15(1)|p.T155_R156delTR(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*25(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.R158fs*8(1)|p.T155fs*26(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(463-474)ACCCGCGTCCGCdel		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-May									TP53_g.12451_12462del	11-May	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7578456_7578467delGCGGACGCGGGT	11998			MODERATE								--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_In_Frame_Del_p.TRVR155del|TP53_uc002gih.2_In_Frame_Del_p.TRVR155del|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_In_Frame_Del_p.TRVR23del|TP53_uc010cng.1_In_Frame_Del_p.TRVR23del|TP53_uc002gii.1_In_Frame_Del_p.TRVR23del|TP53_uc010cnh.1_In_Frame_Del_p.TRVR155del|TP53_uc010cni.1_In_Frame_Del_p.TRVR155del|TP53_uc002gij.2_In_Frame_Del_p.TRVR155del|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_In_Frame_Del_p.TRVR62del|TP53_uc002gio.2_In_Frame_Del_p.TRVR23del|TP53_uc010vug.1_In_Frame_Del_p.TRVR116del		1			p.TRVR155del	NM_001126112	NP_001119584				P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		5	657_668	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	155_158		R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		deletion	TP53,inframe_deletion,p.Thr155_Arg158del,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,inframe_deletion,p.Thr155_Arg158del,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,inframe_deletion,p.Thr155_Arg158del,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,inframe_deletion,p.Thr155_Arg158del,ENST00000445888,;TP53,inframe_deletion,p.Thr155_Arg158del,ENST00000359597,;TP53,inframe_deletion,p.Thr155_Arg158del,ENST00000413465,;TP53,inframe_deletion,p.Thr23_Arg26del,ENST00000509690,;TP53,inframe_deletion,p.Thr155_Arg158del,ENST00000508793,;TP53,inframe_deletion,p.Thr62_Arg65del,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	uc002gim.2	c.463_474delACCCGCGTCCGC	653-664/2579	5	5		111	c.463_474delACCCGCGTCCGC	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	DEL	c.(463-474)ACCCGCGTCCGCdel	41	41		p.V157F(139)|p.R158H(58)|p.R158L(55)|p.R156P(24)|p.T155N(19)|p.R158C(17)|p.T155P(14)|p.T155I(10)|p.V157I(10)|p.R156H(10)|p.R158G(10)|p.R158P(9)|p.V157D(8)|p.R156fs*14(8)|p.T155A(7)|p.V157G(7)|p.0?(7)|p.V157L(6)|p.R158R(6)|p.V157V(5)|p.T155T(5)|p.R158fs*12(5)|p.P152fs*14(4)|p.R158_A159insX(4)|p.V157fs*13(3)|p.R156R(3)|p.R156S(3)|p.R156fs*25(3)|p.R156L(3)|p.R156G(3)|p.T155S(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.G154fs*14(2)|p.R158fs*11(2)|p.R156C(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.A159fs*11(1)|p.R65L(1)|p.D148fs*23(1)|p.V157A(1)|p.A159fs*21(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.T155fs*25(1)|p.R156_A161del(1)|p.D148_T155delDSTPPPGT(1)|p.G154_R156delGTR(1)|p.V157_M160delVRAM(1)|p.R156fs*12(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.R158_A159insXX(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156del(1)|p.T155fs*15(1)|p.T155_R156delTR(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*25(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.R158fs*8(1)|p.T155fs*26(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7578467	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.623	ENSG00000141510	16131	g.chr17:7578456_7578467delGCGGACGCGGGT	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.V157F(NCIH1781-Tumor)|p.T155N(NCIH524-Tumor)|p.T155P(DMS153-Tumor)|p.R158H(MOLT16-Tumor)|p.R158L(NCIH747-Tumor)|p.R156P(HTK-Tumor)|p.V157F(DMS454-Tumor)|p.V157F(HS578T-Tumor)|p.R158P(NCIH2110-Tumor)|p.V157F(NCIH2196-Tumor)|p.R158L(NCIH661-Tumor)|p.R158G(SNU1105-Tumor)|p.R156P(HOS-Tumor)|p.R158L(NCIH441-Tumor)|p.V157F(VMRCLCP-Tumor)|p.P152fs(RH41-Tumor)|p.V157F(NCIH2066-Tumor)|p.V157F(NCIH2087-Tumor)|p.R158G(NCIH2170-Tumor)|p.R158H(ST486-Tumor)|p.V157F(CORL88-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.V157F(NCIH1781-Tumor)|p.T155N(NCIH524-Tumor)|p.T155P(DMS153-Tumor)|p.R158H(MOLT16-Tumor)|p.R158L(NCIH747-Tumor)|p.R156P(HTK-Tumor)|p.V157F(DMS454-Tumor)|p.V157F(HS578T-Tumor)|p.R158P(NCIH2110-Tumor)|p.V157F(NCIH2196-Tumor)|p.R158L(NCIH661-Tumor)|p.R158G(SNU1105-Tumor)|p.R156P(HOS-Tumor)|p.R158L(NCIH441-Tumor)|p.V157F(VMRCLCP-Tumor)|p.P152fs(RH41-Tumor)|p.V157F(NCIH2066-Tumor)|p.V157F(NCIH2087-Tumor)|p.R158G(NCIH2170-Tumor)|p.R158H(ST486-Tumor)|p.V157F(CORL88-Tumor)	690														0.75	1	1	0	1	0	0	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	-			TP53_uc002gig.1_In_Frame_Del_p.TRVR155del|TP53_uc002gih.2_In_Frame_Del_p.TRVR155del|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_In_Frame_Del_p.TRVR23del|TP53_uc010cng.1_In_Frame_Del_p.TRVR23del|TP53_uc002gii.1_In_Frame_Del_p.TRVR23del|TP53_uc010cnh.1_In_Frame_Del_p.TRVR155del|TP53_uc010cni.1_In_Frame_Del_p.TRVR155del|TP53_uc002gij.2_In_Frame_Del_p.TRVR155del|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_In_Frame_Del_p.TRVR62del|TP53_uc002gio.2_In_Frame_Del_p.TRVR23del|TP53_uc010vug.1_In_Frame_Del_p.TRVR116del	90	GBM-06-2569-TP	p.TRVR155del	GCGGACGCGGGT	TGGCCATGGCGCGGACGCGGGTGCCGGGCGGG	NM_001126112	NP_001119584	7578456	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	657_668	-	-	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	In_Frame_Del	155_158		R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	7157	broad.mit.edu	GRCh37	17	7578263	7578263	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-5417-01	TCGA-06-5417-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.586C>T	p.Arg196Ter	p.R196*	ENST00000269305	NM_001126112.2	196	Cga/Tga	0			1			A	R/*	uc002gim.2	protein_coding	YES	CCDS11118.1		111	586/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	pathogenic		p.R196*(125)|p.R196P(12)|p.0?(7)|p.R196R(5)|p.R196fs*51(4)|p.A189_V197delAPPQHLIRV(4)|p.R196Q(3)|p.K164_P219del(1)|p.R196L(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.R64*(1)|p.I195fs*12(1)|p.R103*(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(586-588)CGA>TGA		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-Jun									rs397516435,TP53_g.12655C>T,COSM10705,COSM99668,COSM99665,COSM99666,COSM3378446,COSM1640847,COSM99667	11-Jun	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7578263G>A	11998			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,17,7578263,G,A&fts=all	R196*	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.2_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.1_Nonsense_Mutation_p.R157*	1,0,1,1,1,1,1,1,1	1			p.R196*	NM_001126112	NP_001119584			0,0,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		6	780	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	196		R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,stop_gained,p.Arg196Ter,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,stop_gained,p.Arg196Ter,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,stop_gained,p.Arg196Ter,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,stop_gained,p.Arg196Ter,ENST00000445888,;TP53,stop_gained,p.Arg196Ter,ENST00000359597,;TP53,stop_gained,p.Arg196Ter,ENST00000413465,;TP53,stop_gained,p.Arg64Ter,ENST00000509690,;TP53,stop_gained,p.Arg103Ter,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,intron_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	uc002gim.2	c.586C>T	776/2579	5	2		111	c.586C>T	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(586-588)CGA>TGA	17	17		p.R196*(125)|p.R196P(12)|p.0?(7)|p.R196R(5)|p.R196fs*51(4)|p.A189_V197delAPPQHLIRV(4)|p.R196Q(3)|p.K164_P219del(1)|p.R196L(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.R64*(1)|p.I195fs*12(1)|p.R103*(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7578263	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.552	ENSG00000141510	16131	g.chr17:7578263G>A	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.R196*(P31FUJ-Tumor)|p.R196*(CALU6-Tumor)|p.R196*(HUT78-Tumor)|p.H193fs(59M-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.R196*(P31FUJ-Tumor)|p.R196*(CALU6-Tumor)|p.R196*(HUT78-Tumor)|p.H193fs(59M-Tumor)	690	144.007126	KEEP	18	29	-1	14	27	18	29	-1	144.18123	14	27	0.55	1	0	0	0	0	0	1	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	A			TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.2_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.1_Nonsense_Mutation_p.R157*	99	GBM-06-5417-TP	p.R196*	G	CCTTCCACTCGGATAAGATGC	NM_001126112	NP_001119584	7578263	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	780	-	A	A		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Nonsense_Mutation	196		R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	7157	broad.mit.edu	GRCh37	17	7577517	7577517	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-5417-01	TCGA-06-5417-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.764T>G	p.Ile255Ser	p.I255S	ENST00000269305	NM_001126112.2	255	aTc/aGc	0			1			C	I/S	uc002gim.2	protein_coding	YES	CCDS11118.1		111	764/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.I255F(16)|p.0?(7)|p.I255T(7)|p.I255del(7)|p.I255S(7)|p.I255N(7)|p.I255fs*90(4)|p.I255fs*9(3)|p.I255V(3)|p.T253_I255del(2)|p.I255I(2)|p.I255fs*8(1)|p.?(1)|p.I254fs*7(1)|p.I255M(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(763-765)ATC>AGC		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-Jul									TP53_g.13401T>G,COSM10788,COSM437488,COSM437489,COSM3403258,COSM1637748	11-Jul	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7577517A>C	11998			MODERATE		2.25	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=I255S	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=I255S	getma.org/?cm=var&var=hg19,17,7577517,A,C&fts=all	I255S	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Missense_Mutation_p.I255S|TP53_uc002gih.2_Missense_Mutation_p.I255S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.I123S|TP53_uc010cng.1_Missense_Mutation_p.I123S|TP53_uc002gii.1_Missense_Mutation_p.I123S|TP53_uc010cnh.1_Missense_Mutation_p.I255S|TP53_uc010cni.1_Missense_Mutation_p.I255S|TP53_uc002gij.2_Missense_Mutation_p.I255S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.I162S|TP53_uc002gio.2_Missense_Mutation_p.I123S	0,1,1,1,1,1	1		probably_damaging(0.999)	p.I255S	NM_001126112	NP_001119584		deleterious(0)	0,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		7	958	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	255		I -> T (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> F (in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Ile255Ser,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Ile255Ser,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Ile255Ser,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Ile255Ser,ENST00000445888,;TP53,missense_variant,p.Ile255Ser,ENST00000359597,;TP53,missense_variant,p.Ile255Ser,ENST00000413465,;TP53,missense_variant,p.Ile123Ser,ENST00000509690,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,downstream_gene_variant,,ENST00000505014,;	uc002gim.2	c.764T>G	954/2579	3	3		111	c.764T>G	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(763-765)ATC>AGC	62	62		p.I255F(16)|p.0?(7)|p.I255T(7)|p.I255del(7)|p.I255S(7)|p.I255N(7)|p.I255fs*90(4)|p.I255fs*9(3)|p.I255V(3)|p.T253_I255del(2)|p.I255I(2)|p.I255fs*8(1)|p.?(1)|p.I254fs*7(1)|p.I255M(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7577517	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.582	ENSG00000141510	16131	g.chr17:7577517A>C	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.I255S(SW579-Tumor)|p.I255S(CGTHW1-Tumor)|p.I255N(PANC10.05-Tumor)|p.I255T(HUPT4-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.I255S(SW579-Tumor)|p.I255S(CGTHW1-Tumor)|p.I255N(PANC10.05-Tumor)|p.I255T(HUPT4-Tumor)	690	135.239207	KEEP	19	25	-1	10	21	19	25	-1	135.443079	10	21	0.558824	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	C			TP53_uc002gig.1_Missense_Mutation_p.I255S|TP53_uc002gih.2_Missense_Mutation_p.I255S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.I123S|TP53_uc010cng.1_Missense_Mutation_p.I123S|TP53_uc002gii.1_Missense_Mutation_p.I123S|TP53_uc010cnh.1_Missense_Mutation_p.I255S|TP53_uc010cni.1_Missense_Mutation_p.I255S|TP53_uc002gij.2_Missense_Mutation_p.I255S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.I162S|TP53_uc002gio.2_Missense_Mutation_p.I123S	99	GBM-06-5417-TP	p.I255S	A	TTCCAGTGTGATGATGGTGAG	NM_001126112	NP_001119584	7577517	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	958	-	C	C		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	255		I -> T (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> F (in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	7157	broad.mit.edu	GRCh37	17	7578406	7578406	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.524G>A	p.Arg175His	p.R175H	ENST00000269305	NM_001126112.2	175	cGc/cAc	0			1			T	R/H	uc002gim.2	protein_coding	YES	CCDS11118.1	R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	111	524/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	pathogenic		p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(523-525)CGC>CAC		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-May									rs28934578,TP53_g.12512G>A,COSM10648,COSM99914,COSM99022,COSM99023,COSM3355994,COSM1640851,COSM99024	11-May	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7578406C>T	11998			MODERATE		3.345	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=R175H	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=R175H	getma.org/?cm=var&var=hg19,17,7578406,C,T&fts=all	R175H	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	1,0,1,1,1,1,1,1,1	1	25,105,660,212,642,000,000,000,000,000,000	benign(0.308)	p.R175H	NM_001126112	NP_001119584		tolerated(0.11)	1,0,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		5	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	175		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Arg175His,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Arg175His,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Arg175His,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Arg175His,ENST00000445888,;TP53,missense_variant,p.Arg175His,ENST00000359597,;TP53,missense_variant,p.Arg175His,ENST00000413465,;TP53,missense_variant,p.Arg43His,ENST00000509690,;TP53,missense_variant,p.Arg82His,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,non_coding_transcript_exon_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	uc002gim.2	c.524G>A	714/2579	2	2	R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	111	c.524G>A	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(523-525)CGC>CAC	45	45		p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7578406	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.652	ENSG00000141510	16131	g.chr17:7578406C>T	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.R175L(LS123-Tumor)|p.R175L(VMRCLCD-Tumor)|p.R175L(DETROIT562-Tumor)|p.R175L(KMS26-Tumor)|p.R175L(KLE-Tumor)|p.R175L(SNU245-Tumor)|p.R175L(SKBR3-Tumor)|p.R175L(RKN-Tumor)|p.R174fs(THP1-Tumor)|p.R175L(HCC1395-Tumor)|p.R175L(VMCUB1-Tumor)|p.R175L(RT11284-Tumor)|p.R175L(AU565-Tumor)|p.R175L(SKUT1-Tumor)|p.R175L(HS571.T-Tumor)|p.R175L(HUCCT1-Tumor)|p.R175L(TYKNU-Tumor)|p.R175L(LMSU-Tumor)|p.R175L(CAL33-Tumor)|p.R175L(SNU1197-Tumor)|p.R175L(NCIH196-Tumor)|p.R175H(HCC44-Tumor)|p.R175L(OPM2-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.R175L(LS123-Tumor)|p.R175L(VMRCLCD-Tumor)|p.R175L(DETROIT562-Tumor)|p.R175L(KMS26-Tumor)|p.R175L(KLE-Tumor)|p.R175L(SNU245-Tumor)|p.R175L(SKBR3-Tumor)|p.R175L(RKN-Tumor)|p.R174fs(THP1-Tumor)|p.R175L(HCC1395-Tumor)|p.R175L(VMCUB1-Tumor)|p.R175L(RT11284-Tumor)|p.R175L(AU565-Tumor)|p.R175L(SKUT1-Tumor)|p.R175L(HS571.T-Tumor)|p.R175L(HUCCT1-Tumor)|p.R175L(TYKNU-Tumor)|p.R175L(LMSU-Tumor)|p.R175L(CAL33-Tumor)|p.R175L(SNU1197-Tumor)|p.R175L(NCIH196-Tumor)|p.R175H(HCC44-Tumor)|p.R175L(OPM2-Tumor)	690	170.065376	KEEP	30	26	-1	12	13	30	26	-1	172.641941	12	13	0.692308	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	T			TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	102	GBM-06-5858-TP	p.R175H	C	GTGGGGGCAGCGCCTCACAAC	NM_001126112	NP_001119584	7578406	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	718	-	T	T		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	175		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	0	broad.mit.edu	GRCh37	17	7578406	7578406	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-06-6698-01	TCGA-06-6698-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.524G>A	p.Arg175His	p.R175H	ENST00000269305	NM_001126112.2	175	cGc/cAc	0			1			T	R/H	uc002gim.2	protein_coding	YES	CCDS11118.1	R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	111	524/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	pathogenic		p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(523-525)CGC>CAC		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-May									rs28934578,TP53_g.12512G>A,COSM10648,COSM99914,COSM99022,COSM99023,COSM3355994,COSM1640851,COSM99024	11-May	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7578406C>T	11998			MODERATE		3.345	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=R175H	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=R175H	getma.org/?cm=var&var=hg19,17,7578406,C,T&fts=all	R175H	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	1,0,1,1,1,1,1,1,1	1	25,105,660,212,642,000,000,000,000,000,000	benign(0.308)	p.R175H	NM_001126112	NP_001119584		tolerated(0.11)	1,0,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		5	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	175		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Arg175His,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Arg175His,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Arg175His,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Arg175His,ENST00000445888,;TP53,missense_variant,p.Arg175His,ENST00000359597,;TP53,missense_variant,p.Arg175His,ENST00000413465,;TP53,missense_variant,p.Arg43His,ENST00000509690,;TP53,missense_variant,p.Arg82His,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,non_coding_transcript_exon_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	uc002gim.2	c.524G>A	714/2579	2	2	R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	111	c.524G>A	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(523-525)CGC>CAC	45	45		p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7578406	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.652	ENSG00000141510	16131	g.chr17:7578406C>T	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.R175L(LS123-Tumor)|p.R175L(VMRCLCD-Tumor)|p.R175L(DETROIT562-Tumor)|p.R175L(KMS26-Tumor)|p.R175L(KLE-Tumor)|p.R175L(SNU245-Tumor)|p.R175L(SKBR3-Tumor)|p.R175L(RKN-Tumor)|p.R174fs(THP1-Tumor)|p.R175L(HCC1395-Tumor)|p.R175L(VMCUB1-Tumor)|p.R175L(RT11284-Tumor)|p.R175L(AU565-Tumor)|p.R175L(SKUT1-Tumor)|p.R175L(HS571.T-Tumor)|p.R175L(HUCCT1-Tumor)|p.R175L(TYKNU-Tumor)|p.R175L(LMSU-Tumor)|p.R175L(CAL33-Tumor)|p.R175L(SNU1197-Tumor)|p.R175L(NCIH196-Tumor)|p.R175H(HCC44-Tumor)|p.R175L(OPM2-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.R175L(LS123-Tumor)|p.R175L(VMRCLCD-Tumor)|p.R175L(DETROIT562-Tumor)|p.R175L(KMS26-Tumor)|p.R175L(KLE-Tumor)|p.R175L(SNU245-Tumor)|p.R175L(SKBR3-Tumor)|p.R175L(RKN-Tumor)|p.R174fs(THP1-Tumor)|p.R175L(HCC1395-Tumor)|p.R175L(VMCUB1-Tumor)|p.R175L(RT11284-Tumor)|p.R175L(AU565-Tumor)|p.R175L(SKUT1-Tumor)|p.R175L(HS571.T-Tumor)|p.R175L(HUCCT1-Tumor)|p.R175L(TYKNU-Tumor)|p.R175L(LMSU-Tumor)|p.R175L(CAL33-Tumor)|p.R175L(SNU1197-Tumor)|p.R175L(NCIH196-Tumor)|p.R175H(HCC44-Tumor)|p.R175L(OPM2-Tumor)	690	173.695949	KEEP	31	31	-1	13	8	31	31	-1	178.322057	13	8	0.76	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	T			TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	112	GBM-06-6698-TP	p.R175H	C	GTGGGGGCAGCGCCTCACAAC	NM_001126112	NP_001119584	7578406	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	718	-	T	T		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	175		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	0	broad.mit.edu	GRCh37	17	7578440	7578440	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-12-0619-01	TCGA-12-0619-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.490A>G	p.Lys164Glu	p.K164E	ENST00000269305	NM_001126112.2	164	Aag/Gag	0			1			C	K/E	uc002gim.2	protein_coding	YES	CCDS11118.1		111	490/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.K164E(12)|p.K164*(9)|p.0?(7)|p.K164N(6)|p.K164M(4)|p.K164K(2)|p.K164fs*5(2)|p.K164Q(2)|p.K164fs*6(2)|p.K164fs*3(2)|p.K164T(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.K164_Q165insXXX(1)|p.K164fs*17(1)|p.K164R(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(490-492)AAG>GAG		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-May									TP53_g.12478A>G,COSM10762,COSM707872,COSM707873,COSM707875,COSM3820721,COSM2153638,COSM707874	11-May	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7578440T>C	11998			MODERATE		1.915	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=K164E	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=K164E	getma.org/?cm=var&var=hg19,17,7578440,T,C&fts=all	K164E	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Missense_Mutation_p.K164E|TP53_uc002gih.2_Missense_Mutation_p.K164E|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.K32E|TP53_uc010cng.1_Missense_Mutation_p.K32E|TP53_uc002gii.1_Missense_Mutation_p.K32E|TP53_uc010cnh.1_Missense_Mutation_p.K164E|TP53_uc010cni.1_Missense_Mutation_p.K164E|TP53_uc002gij.2_Missense_Mutation_p.K164E|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.K71E|TP53_uc002gio.2_Missense_Mutation_p.K32E|TP53_uc010vug.1_Missense_Mutation_p.K125E	0,1,1,1,1,1,1,1	1		probably_damaging(0.999)	p.K164E	NM_001126112	NP_001119584		deleterious(0)	0,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		5	684	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	164		K -> E (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Lys164Glu,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Lys164Glu,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Lys164Glu,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Lys164Glu,ENST00000445888,;TP53,missense_variant,p.Lys164Glu,ENST00000359597,;TP53,missense_variant,p.Lys164Glu,ENST00000413465,;TP53,missense_variant,p.Lys32Glu,ENST00000509690,;TP53,missense_variant,p.Lys164Glu,ENST00000508793,;TP53,missense_variant,p.Lys71Glu,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	uc002gim.2	c.490A>G	680/2579	4	4		111	c.490A>G	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(490-492)AAG>GAG	44	44		p.K164E(12)|p.K164*(9)|p.0?(7)|p.K164N(6)|p.K164M(4)|p.K164K(2)|p.K164fs*5(2)|p.K164Q(2)|p.K164fs*6(2)|p.K164fs*3(2)|p.K164T(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.K164_Q165insXXX(1)|p.K164fs*17(1)|p.K164R(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7578440	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.627	ENSG00000141510	16131	g.chr17:7578440T>C	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.K164*(SNU387-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.K164*(SNU387-Tumor)	690	133.244186	KEEP	26	21	-1	7	12	26	21	-1	135.171829	7	12	0.696429	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	C			TP53_uc002gig.1_Missense_Mutation_p.K164E|TP53_uc002gih.2_Missense_Mutation_p.K164E|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.K32E|TP53_uc010cng.1_Missense_Mutation_p.K32E|TP53_uc002gii.1_Missense_Mutation_p.K32E|TP53_uc010cnh.1_Missense_Mutation_p.K164E|TP53_uc010cni.1_Missense_Mutation_p.K164E|TP53_uc002gij.2_Missense_Mutation_p.K164E|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.K71E|TP53_uc002gio.2_Missense_Mutation_p.K32E|TP53_uc010vug.1_Missense_Mutation_p.K125E	120	GBM-12-0619-TP	p.K164E	T	TGTGACTGCTTGTAGATGGCC	NM_001126112	NP_001119584	7578440	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	684	-	C	C		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	164		K -> E (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	0	broad.mit.edu	GRCh37	17	7577094	7577094	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-14-0813-01	TCGA-14-0813-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.844C>T	p.Arg282Trp	p.R282W	ENST00000269305	NM_001126112.2	282	Cgg/Tgg	0			1			A	R/W	uc002gim.2	protein_coding	YES	CCDS11118.1		111	844/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	likely_benign,pathogenic		p.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(844-846)CGG>TGG		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-Aug									rs28934574,TP53_g.13824C>T,COSM10704,COSM99925,COSM3378339,COSM1636702	11-Aug	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7577094G>A	11998			MODERATE		3.075	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=R282W	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=R282W	getma.org/?cm=var&var=hg19,17,7577094,G,A&fts=all	R282W	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W	1,0,1,1,1,1	1	251,056,602,540,450,000,000,000	probably_damaging(0.997)	p.R282W	NM_001126112	NP_001119584		deleterious(0)	0,0,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		8	1038	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	282		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Arg282Trp,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Arg282Trp,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Arg282Trp,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Arg282Trp,ENST00000445888,;TP53,missense_variant,p.Arg282Trp,ENST00000359597,;TP53,missense_variant,p.Arg150Trp,ENST00000509690,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,downstream_gene_variant,,ENST00000505014,;	uc002gim.2	c.844C>T	1034/2579	1	1		111	c.844C>T	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(844-846)CGG>TGG	55	55		p.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7577094	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.557	ENSG00000141510	16131	g.chr17:7577094G>A	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.R282G(NCIH510-Tumor)|p.R282W(HUPT3-Tumor)|p.V274fs(SCC9-Tumor)|p.R282W(CAL29-Tumor)|p.R282W(EFE184-Tumor)|p.R282W(OVKATE-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.R282G(NCIH510-Tumor)|p.R282W(HUPT3-Tumor)|p.V274fs(SCC9-Tumor)|p.R282W(CAL29-Tumor)|p.R282W(EFE184-Tumor)|p.R282W(OVKATE-Tumor)	690	83.272846	KEEP	25	8	-1	35	23	25	8	-1	85.21571	35	23	0.337349	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	A			TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W	138	GBM-14-0813-TP	p.R282W	G	TCTGTGCGCCGGTCTCTCCCA	NM_001126112	NP_001119584	7577094	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1038	-	A	A		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	282		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	0	broad.mit.edu	GRCh37	17	7578211	7578214	+	frameshift_variant	Frame_Shift_Del	DEL	CGAA	CGAA	-			TCGA-14-0813-01	TCGA-14-0813-01	CGAA	CGAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.635_638delTTCG	p.Phe212TyrfsTer34	p.F212Yfs*34	ENST00000269305	NM_001126112.2	212	tTTCGa/ta	0			1			-	FR/X	uc002gim.2	protein_coding	YES	CCDS11118.1		111	635-638/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.R213*(186)|p.R213L(25)|p.R213Q(22)|p.F212fs*3(7)|p.0?(7)|p.R213P(5)|p.F212L(3)|p.R213fs*34(3)|p.F212I(2)|p.R81*(2)|p.F212S(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.T211_F212insX(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.F212fs*4(1)|p.R213>L(1)|p.F212Y(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(634-639)TTTCGAfs		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-Jun										11-Jun	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7578211_7578214delCGAA	11998			HIGH								--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Frame_Shift_Del_p.F212fs|TP53_uc002gih.2_Frame_Shift_Del_p.F212fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.F80fs|TP53_uc010cng.1_Frame_Shift_Del_p.F80fs|TP53_uc002gii.1_Frame_Shift_Del_p.F80fs|TP53_uc010cnh.1_Frame_Shift_Del_p.F212fs|TP53_uc010cni.1_Frame_Shift_Del_p.F212fs|TP53_uc002gij.2_Frame_Shift_Del_p.F212fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.F119fs|TP53_uc002gio.2_Frame_Shift_Del_p.F80fs|TP53_uc010vug.1_Frame_Shift_Del_p.F173fs		1			p.F212fs	NM_001126112	NP_001119584				P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		6	829_832	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	212_213		R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		deletion	TP53,frameshift_variant,p.Phe212TyrfsTer34,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,frameshift_variant,p.Phe212TyrfsTer34,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,frameshift_variant,p.Phe212TyrfsTer34,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,frameshift_variant,p.Phe212TyrfsTer34,ENST00000445888,;TP53,frameshift_variant,p.Phe212TyrfsTer34,ENST00000359597,;TP53,frameshift_variant,p.Phe212TyrfsTer34,ENST00000413465,;TP53,frameshift_variant,p.Phe80TyrfsTer34,ENST00000509690,;TP53,frameshift_variant,p.Phe119TyrfsTer34,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,intron_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	uc002gim.2	c.635_638delTTCG	825-828/2579	5	5		111	c.635_638delTTCG	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	DEL	c.(634-639)TTTCGAfs	20	20		p.R213*(186)|p.R213L(25)|p.R213Q(22)|p.F212fs*3(7)|p.0?(7)|p.R213P(5)|p.F212L(3)|p.R213fs*34(3)|p.F212I(2)|p.R81*(2)|p.F212S(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.T211_F212insX(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.F212fs*4(1)|p.R213>L(1)|p.F212Y(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7578214	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.534	ENSG00000141510	16131	g.chr17:7578211_7578214delCGAA	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.R213L(HT55-Tumor)|p.R213Q(AN3CA-Tumor)|p.R213*(DMS114-Tumor)|p.R213*(MOLT13-Tumor)|p.R213*(SUPT11-Tumor)|p.R213Q(RAJI-Tumor)|p.R213Q(U138MG-Tumor)|p.R213*(HEC251-Tumor)|p.R213*(TC71-Tumor)|p.R213*(SNU81-Tumor)|p.R213*(IPC298-Tumor)|p.R213*(RERFGC1B-Tumor)|p.R213*(TE14-Tumor)|p.R213*(HT115-Tumor)|p.R213*(ESS1-Tumor)|p.R213*(JHOM1-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.R213L(HT55-Tumor)|p.R213Q(AN3CA-Tumor)|p.R213*(DMS114-Tumor)|p.R213*(MOLT13-Tumor)|p.R213*(SUPT11-Tumor)|p.R213Q(RAJI-Tumor)|p.R213Q(U138MG-Tumor)|p.R213*(HEC251-Tumor)|p.R213*(TC71-Tumor)|p.R213*(SNU81-Tumor)|p.R213*(IPC298-Tumor)|p.R213*(RERFGC1B-Tumor)|p.R213*(TE14-Tumor)|p.R213*(HT115-Tumor)|p.R213*(ESS1-Tumor)|p.R213*(JHOM1-Tumor)	690														0.27	1	1	0	1	0	0	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	-			TP53_uc002gig.1_Frame_Shift_Del_p.F212fs|TP53_uc002gih.2_Frame_Shift_Del_p.F212fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.F80fs|TP53_uc010cng.1_Frame_Shift_Del_p.F80fs|TP53_uc002gii.1_Frame_Shift_Del_p.F80fs|TP53_uc010cnh.1_Frame_Shift_Del_p.F212fs|TP53_uc010cni.1_Frame_Shift_Del_p.F212fs|TP53_uc002gij.2_Frame_Shift_Del_p.F212fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.F119fs|TP53_uc002gio.2_Frame_Shift_Del_p.F80fs|TP53_uc010vug.1_Frame_Shift_Del_p.F173fs	138	GBM-14-0813-TP	p.F212fs	CGAA	CACACTATGTCGAAAAGTGTTTCT	NM_001126112	NP_001119584	7578211	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	829_832	-	-	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Frame_Shift_Del	212_213		R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	0	broad.mit.edu	GRCh37	17	7578264	7578268	+	frameshift_variant	Frame_Shift_Del	DEL	GATAA	GATAA	-			TCGA-14-0817-01	TCGA-14-0817-01	GATAA	GATAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.581_585delTTATC	p.Leu194ProfsTer13	p.L194Pfs*13	ENST00000269305	NM_001126112.2	194	cTTATC/c	0			1			-	LI/X	uc002gim.2	protein_coding	YES	CCDS11118.1		111	581-585/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.I195T(61)|p.L194R(31)|p.L194F(16)|p.I195F(16)|p.I195N(12)|p.L194P(8)|p.R196*(7)|p.0?(7)|p.L194H(5)|p.L194L(4)|p.I195S(4)|p.A189_V197delAPPQHLIRV(4)|p.I195fs*14(3)|p.P191fs*53(2)|p.L194fs*15(2)|p.I195fs*52(2)|p.K164_P219del(1)|p.L194V(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.I195fs*12(1)|p.I195L(1)|p.I195fs*50(1)|p.L194fs*14(1)|p.L194fs*52(1)|p.?(1)|p.I195_G199delIRVEG(1)|p.A189fs*53(1)|p.L194I(1)|p.H193_I195>AP(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(580-585)CTTATCfs		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-Jun										11-Jun	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7578264_7578268delGATAA	11998			HIGH								--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Frame_Shift_Del_p.L194fs|TP53_uc002gih.2_Frame_Shift_Del_p.L194fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.L62fs|TP53_uc010cng.1_Frame_Shift_Del_p.L62fs|TP53_uc002gii.1_Frame_Shift_Del_p.L62fs|TP53_uc010cnh.1_Frame_Shift_Del_p.L194fs|TP53_uc010cni.1_Frame_Shift_Del_p.L194fs|TP53_uc002gij.2_Frame_Shift_Del_p.L194fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.L101fs|TP53_uc002gio.2_Frame_Shift_Del_p.L62fs|TP53_uc010vug.1_Frame_Shift_Del_p.L155fs		1			p.L194fs	NM_001126112	NP_001119584				P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		6	775_779	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	194_195		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|I -> N (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		deletion	TP53,frameshift_variant,p.Leu194ProfsTer13,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,frameshift_variant,p.Leu194ProfsTer13,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,frameshift_variant,p.Leu194ProfsTer13,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,frameshift_variant,p.Leu194ProfsTer13,ENST00000445888,;TP53,frameshift_variant,p.Leu194ProfsTer13,ENST00000359597,;TP53,frameshift_variant,p.Leu194ProfsTer13,ENST00000413465,;TP53,frameshift_variant,p.Leu62ProfsTer13,ENST00000509690,;TP53,frameshift_variant,p.Leu101ProfsTer13,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,intron_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	uc002gim.2	c.581_585delTTATC	771-775/2579	5	5		111	c.581_585delTTATC	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	DEL	c.(580-585)CTTATCfs	8	8		p.I195T(61)|p.L194R(31)|p.L194F(16)|p.I195F(16)|p.I195N(12)|p.L194P(8)|p.R196*(7)|p.0?(7)|p.L194H(5)|p.L194L(4)|p.I195S(4)|p.A189_V197delAPPQHLIRV(4)|p.I195fs*14(3)|p.P191fs*53(2)|p.L194fs*15(2)|p.I195fs*52(2)|p.K164_P219del(1)|p.L194V(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.I195fs*12(1)|p.I195L(1)|p.I195fs*50(1)|p.L194fs*14(1)|p.L194fs*52(1)|p.?(1)|p.I195_G199delIRVEG(1)|p.A189fs*53(1)|p.L194I(1)|p.H193_I195>AP(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7578268	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.551	ENSG00000141510	16131	g.chr17:7578264_7578268delGATAA	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.L194R(GSS-Tumor)|p.I195S(SNU1077-Tumor)|p.I195T(KYSE180-Tumor)|p.I195F(COV318-Tumor)|p.H193fs(59M-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.L194R(GSS-Tumor)|p.I195S(SNU1077-Tumor)|p.I195T(KYSE180-Tumor)|p.I195F(COV318-Tumor)|p.H193fs(59M-Tumor)	690														0.69	1	1	0	1	0	0	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	-			TP53_uc002gig.1_Frame_Shift_Del_p.L194fs|TP53_uc002gih.2_Frame_Shift_Del_p.L194fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.L62fs|TP53_uc010cng.1_Frame_Shift_Del_p.L62fs|TP53_uc002gii.1_Frame_Shift_Del_p.L62fs|TP53_uc010cnh.1_Frame_Shift_Del_p.L194fs|TP53_uc010cni.1_Frame_Shift_Del_p.L194fs|TP53_uc002gij.2_Frame_Shift_Del_p.L194fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.L101fs|TP53_uc002gio.2_Frame_Shift_Del_p.L62fs|TP53_uc010vug.1_Frame_Shift_Del_p.L155fs	139	GBM-14-0817-TP	p.L194fs	GATAA	CTTCCACTCGGATAAGATGCTGAGG	NM_001126112	NP_001119584	7578264	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	775_779	-	-	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Frame_Shift_Del	194_195		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|I -> N (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	0	broad.mit.edu	GRCh37	17	7577035	7577036	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	rs72661120		TCGA-14-0871-01	TCGA-14-0871-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.902dupC	p.Gly302ArgfsTer4	p.G302Rfs*4	ENST00000269305	NM_001126112.2	301	cca/ccCa	0			1			G	P/PX	uc002gim.2	protein_coding	YES	CCDS11118.1		111	902-903/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.P301fs*44(9)|p.0?(7)|p.G302fs*4(4)|p.?(3)|p.P301fs*5(3)|p.P301S(3)|p.P301_S303delPGS(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.P301Q(1)|p.P301P(1)|p.P301fs*45(1)|p.P301T(1)|p.G293fs*1(1)|p.P301L(1)|p.P301A(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(901-903)CCAfs		Other_conserved_DNA_damage_response_genes	hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6	tumor protein p53 isoform a				ENSP00000269305		11-Aug										11-Aug	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7577035_7577036insG	11998			HIGH								--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Ins_p.P301fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Ins_p.P169fs|TP53_uc010cng.1_Frame_Shift_Ins_p.P169fs|TP53_uc002gii.1_Frame_Shift_Ins_p.P169fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.P301fs|TP53_uc010cni.1_Frame_Shift_Ins_p.P301fs|TP53_uc002gij.2_Frame_Shift_Ins_p.P301fs		1			p.P301fs	NM_001126112	NP_001119584				P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		8	1096_1097	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	301		P -> T (in a sporadic cancer; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).	Interaction with HIPK1 (By similarity).|Interaction with CARM1.		insertion	TP53,frameshift_variant,p.Gly302ArgfsTer4,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,frameshift_variant,p.Gly302ArgfsTer4,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,frameshift_variant,p.Gly302ArgfsTer4,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,frameshift_variant,p.Gly302ArgfsTer4,ENST00000445888,;TP53,frameshift_variant,p.Gly302ArgfsTer4,ENST00000359597,;TP53,frameshift_variant,p.Gly170ArgfsTer4,ENST00000509690,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,downstream_gene_variant,,ENST00000505014,;	uc002gim.2	c.902_903insC	1092-1093/2579	5	5		111	c.902_903insC	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	INS	c.(901-903)CCAfs	24	24		p.P301fs*44(9)|p.0?(7)|p.G302fs*4(4)|p.?(3)|p.P301fs*5(3)|p.P301S(3)|p.P301_S303delPGS(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.P301Q(1)|p.P301P(1)|p.P301fs*45(1)|p.P301T(1)|p.G293fs*1(1)|p.P301L(1)|p.P301A(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7577036	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.559	ENSG00000141510	16131	g.chr17:7577035_7577036insG	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.P301fs(KCL22-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.P301fs(KCL22-Tumor)	690														0.84	1	0	0	1	1	0	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	G			TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Ins_p.P301fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Ins_p.P169fs|TP53_uc010cng.1_Frame_Shift_Ins_p.P169fs|TP53_uc002gii.1_Frame_Shift_Ins_p.P169fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.P301fs|TP53_uc010cni.1_Frame_Shift_Ins_p.P301fs|TP53_uc002gij.2_Frame_Shift_Ins_p.P301fs	141	GBM-14-0871-TP	p.P301fs	-	TAGTGCTCCCTGGGGGCAGCTC	NM_001126112	NP_001119584	7577035	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1096_1097	-	G	G		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Frame_Shift_Ins	301		P -> T (in a sporadic cancer; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).	Interaction with HIPK1 (By similarity).|Interaction with CARM1.			
TP53	0	broad.mit.edu	GRCh37	17	7577094	7577094	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-14-1825-01	TCGA-14-1825-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.844C>T	p.Arg282Trp	p.R282W	ENST00000269305	NM_001126112.2	282	Cgg/Tgg	0			1			A	R/W	uc002gim.2	protein_coding	YES	CCDS11118.1		111	844/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	likely_benign,pathogenic		p.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(844-846)CGG>TGG		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-Aug									rs28934574,TP53_g.13824C>T,COSM10704,COSM99925,COSM3378339,COSM1636702	11-Aug	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7577094G>A	11998			MODERATE		3.075	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=R282W	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=R282W	getma.org/?cm=var&var=hg19,17,7577094,G,A&fts=all	R282W	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W	1,0,1,1,1,1	1	251,056,602,540,450,000,000,000	probably_damaging(0.997)	p.R282W	NM_001126112	NP_001119584		deleterious(0)	0,0,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		8	1038	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	282		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Arg282Trp,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Arg282Trp,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Arg282Trp,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Arg282Trp,ENST00000445888,;TP53,missense_variant,p.Arg282Trp,ENST00000359597,;TP53,missense_variant,p.Arg150Trp,ENST00000509690,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,downstream_gene_variant,,ENST00000505014,;	uc002gim.2	c.844C>T	1034/2579	1	1		111	c.844C>T	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(844-846)CGG>TGG	55	55		p.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7577094	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.557	ENSG00000141510	16131	g.chr17:7577094G>A	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.R282G(NCIH510-Tumor)|p.R282W(HUPT3-Tumor)|p.V274fs(SCC9-Tumor)|p.R282W(CAL29-Tumor)|p.R282W(EFE184-Tumor)|p.R282W(OVKATE-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.R282G(NCIH510-Tumor)|p.R282W(HUPT3-Tumor)|p.V274fs(SCC9-Tumor)|p.R282W(CAL29-Tumor)|p.R282W(EFE184-Tumor)|p.R282W(OVKATE-Tumor)	690	66.531131	KEEP	13	16	-1	22	22	13	16	-1	68.030423	22	22	0.338462	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	A			TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W	148	GBM-14-1825-TP	p.R282W	G	TCTGTGCGCCGGTCTCTCCCA	NM_001126112	NP_001119584	7577094	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1038	-	A	A		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	282		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	0	broad.mit.edu	GRCh37	17	7578263	7578263	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-14-1825-01	TCGA-14-1825-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.586C>T	p.Arg196Ter	p.R196*	ENST00000269305	NM_001126112.2	196	Cga/Tga	0			1			A	R/*	uc002gim.2	protein_coding	YES	CCDS11118.1		111	586/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	pathogenic		p.R196*(125)|p.R196P(12)|p.0?(7)|p.R196R(5)|p.R196fs*51(4)|p.A189_V197delAPPQHLIRV(4)|p.R196Q(3)|p.K164_P219del(1)|p.R196L(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.R64*(1)|p.I195fs*12(1)|p.R103*(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(586-588)CGA>TGA		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-Jun									rs397516435,TP53_g.12655C>T,COSM10705,COSM99668,COSM99665,COSM99666,COSM3378446,COSM1640847,COSM99667	11-Jun	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7578263G>A	11998			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,17,7578263,G,A&fts=all	R196*	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.2_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.1_Nonsense_Mutation_p.R157*	1,0,1,1,1,1,1,1,1	1			p.R196*	NM_001126112	NP_001119584			0,0,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		6	780	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	196		R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,stop_gained,p.Arg196Ter,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,stop_gained,p.Arg196Ter,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,stop_gained,p.Arg196Ter,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,stop_gained,p.Arg196Ter,ENST00000445888,;TP53,stop_gained,p.Arg196Ter,ENST00000359597,;TP53,stop_gained,p.Arg196Ter,ENST00000413465,;TP53,stop_gained,p.Arg64Ter,ENST00000509690,;TP53,stop_gained,p.Arg103Ter,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,intron_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	uc002gim.2	c.586C>T	776/2579	5	2		111	c.586C>T	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(586-588)CGA>TGA	17	17		p.R196*(125)|p.R196P(12)|p.0?(7)|p.R196R(5)|p.R196fs*51(4)|p.A189_V197delAPPQHLIRV(4)|p.R196Q(3)|p.K164_P219del(1)|p.R196L(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.R64*(1)|p.I195fs*12(1)|p.R103*(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7578263	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.552	ENSG00000141510	16131	g.chr17:7578263G>A	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.R196*(P31FUJ-Tumor)|p.R196*(CALU6-Tumor)|p.R196*(HUT78-Tumor)|p.H193fs(59M-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.R196*(P31FUJ-Tumor)|p.R196*(CALU6-Tumor)|p.R196*(HUT78-Tumor)|p.H193fs(59M-Tumor)	690	118.295775	KEEP	20	20	-1	28	15	20	20	-1	118.321902	28	15	0.48	1	0	0	0	0	0	1	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	A			TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.2_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.1_Nonsense_Mutation_p.R157*	148	GBM-14-1825-TP	p.R196*	G	CCTTCCACTCGGATAAGATGC	NM_001126112	NP_001119584	7578263	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	780	-	A	A		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Nonsense_Mutation	196		R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	0	broad.mit.edu	GRCh37	17	7578406	7578406	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-14-4157-01	TCGA-14-4157-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.524G>A	p.Arg175His	p.R175H	ENST00000269305	NM_001126112.2	175	cGc/cAc	0			1			T	R/H	uc002gim.2	protein_coding	YES	CCDS11118.1	R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	111	524/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	pathogenic		p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(523-525)CGC>CAC		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-May									rs28934578,TP53_g.12512G>A,COSM10648,COSM99914,COSM99022,COSM99023,COSM3355994,COSM1640851,COSM99024	11-May	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7578406C>T	11998			MODERATE		3.345	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=R175H	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=R175H	getma.org/?cm=var&var=hg19,17,7578406,C,T&fts=all	R175H	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	1,0,1,1,1,1,1,1,1	1	25,105,660,212,642,000,000,000,000,000,000	benign(0.308)	p.R175H	NM_001126112	NP_001119584		tolerated(0.11)	1,0,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		5	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	175		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Arg175His,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Arg175His,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Arg175His,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Arg175His,ENST00000445888,;TP53,missense_variant,p.Arg175His,ENST00000359597,;TP53,missense_variant,p.Arg175His,ENST00000413465,;TP53,missense_variant,p.Arg43His,ENST00000509690,;TP53,missense_variant,p.Arg82His,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,non_coding_transcript_exon_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	uc002gim.2	c.524G>A	714/2579	2	2	R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	111	c.524G>A	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(523-525)CGC>CAC	45	45		p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7578406	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.652	ENSG00000141510	16131	g.chr17:7578406C>T	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.R175L(LS123-Tumor)|p.R175L(VMRCLCD-Tumor)|p.R175L(DETROIT562-Tumor)|p.R175L(KMS26-Tumor)|p.R175L(KLE-Tumor)|p.R175L(SNU245-Tumor)|p.R175L(SKBR3-Tumor)|p.R175L(RKN-Tumor)|p.R174fs(THP1-Tumor)|p.R175L(HCC1395-Tumor)|p.R175L(VMCUB1-Tumor)|p.R175L(RT11284-Tumor)|p.R175L(AU565-Tumor)|p.R175L(SKUT1-Tumor)|p.R175L(HS571.T-Tumor)|p.R175L(HUCCT1-Tumor)|p.R175L(TYKNU-Tumor)|p.R175L(LMSU-Tumor)|p.R175L(CAL33-Tumor)|p.R175L(SNU1197-Tumor)|p.R175L(NCIH196-Tumor)|p.R175H(HCC44-Tumor)|p.R175L(OPM2-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.R175L(LS123-Tumor)|p.R175L(VMRCLCD-Tumor)|p.R175L(DETROIT562-Tumor)|p.R175L(KMS26-Tumor)|p.R175L(KLE-Tumor)|p.R175L(SNU245-Tumor)|p.R175L(SKBR3-Tumor)|p.R175L(RKN-Tumor)|p.R174fs(THP1-Tumor)|p.R175L(HCC1395-Tumor)|p.R175L(VMCUB1-Tumor)|p.R175L(RT11284-Tumor)|p.R175L(AU565-Tumor)|p.R175L(SKUT1-Tumor)|p.R175L(HS571.T-Tumor)|p.R175L(HUCCT1-Tumor)|p.R175L(TYKNU-Tumor)|p.R175L(LMSU-Tumor)|p.R175L(CAL33-Tumor)|p.R175L(SNU1197-Tumor)|p.R175L(NCIH196-Tumor)|p.R175H(HCC44-Tumor)|p.R175L(OPM2-Tumor)	690	93.970235	KEEP	17	19	-1	18	15	17	19	-1	94.058944	18	15	0.540984	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	T			TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	152	GBM-14-4157-TP	p.R175H	C	GTGGGGGCAGCGCCTCACAAC	NM_001126112	NP_001119584	7578406	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	718	-	T	T		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	175		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	0	broad.mit.edu	GRCh37	17	7577539	7577539	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-15-1444-01	TCGA-15-1444-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.742C>T	p.Arg248Trp	p.R248W	ENST00000269305	NM_001126112.2	248	Cgg/Tgg	0			1			A	R/W	uc002gim.2	protein_coding	YES	CCDS11118.1	R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO680N_OESOPHAGUS)|R248W(SW837_LARGE_INTESTINE)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(RD_SOFT_TISSUE)|R248W(VCAP_PROSTATE)|R248W(JIMT1_BREAST)|R248W(GCT_SOFT_TISSUE)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(786O_KIDNEY)|R248W(COLO320_LARGE_INTESTINE)|R248W(LXF289_LUNG)|R248W(LUDLU1_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(HCC2157_BREAST)	111	742/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	pathogenic		p.R248Q(516)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(742-744)CGG>TGG		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,PROSITE_patterns:PS00348,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-Jul									rs121912651,TP53_g.13379C>T,COSM10656,COSM120007,COSM120005,COSM3388183,COSM1640831,COSM120006	11-Jul	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7577539G>A	11998			MODERATE		3.315	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=R248W	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=R248W	getma.org/?cm=var&var=hg19,17,7577539,G,A&fts=all	R248W	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.2_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W	1,0,1,1,1,1,1,1	1		probably_damaging(1)	p.R248W	NM_001126112	NP_001119584		deleterious(0)	0,0,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		7	936	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	248		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Arg248Trp,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Arg248Trp,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Arg248Trp,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Arg248Trp,ENST00000445888,;TP53,missense_variant,p.Arg248Trp,ENST00000359597,;TP53,missense_variant,p.Arg248Trp,ENST00000413465,;TP53,missense_variant,p.Arg116Trp,ENST00000509690,;TP53,missense_variant,p.Arg155Trp,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,downstream_gene_variant,,ENST00000505014,;	uc002gim.2	c.742C>T	932/2579	2	2	R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO680N_OESOPHAGUS)|R248W(SW837_LARGE_INTESTINE)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(RD_SOFT_TISSUE)|R248W(VCAP_PROSTATE)|R248W(JIMT1_BREAST)|R248W(GCT_SOFT_TISSUE)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(786O_KIDNEY)|R248W(COLO320_LARGE_INTESTINE)|R248W(LXF289_LUNG)|R248W(LUDLU1_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(HCC2157_BREAST)	111	c.742C>T	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(742-744)CGG>TGG	45	45		p.R248Q(516)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7577539	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.577	ENSG00000141510	16131	g.chr17:7577539G>A	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.R248W(SW837-Tumor)|p.R248W(786O-Tumor)|p.R248W(LUDLU1-Tumor)|p.R248W(VCAP-Tumor)|p.R248*(DB-Tumor)|p.R248W(MIAPACA2-Tumor)|p.R248W(HCC2157-Tumor)|p.R248W(LXF289-Tumor)|p.R248G(8505C-Tumor)|p.R248A(SF126-Tumor)|p.R248W(SET2-Tumor)|p.R248W(KO52-Tumor)|p.R248W(SNU1040-Tumor)|p.R248W(GCT-Tumor)|p.R248W(JIMT1-Tumor)|p.R248W(COLO320-Tumor)|p.R248W(CAS1-Tumor)|p.R248W(NCIH2106-Tumor)|p.R248W(SNUC5-Tumor)|p.R248W(COLO680N-Tumor)|p.R248W(RD-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.R248W(SW837-Tumor)|p.R248W(786O-Tumor)|p.R248W(LUDLU1-Tumor)|p.R248W(VCAP-Tumor)|p.R248*(DB-Tumor)|p.R248W(MIAPACA2-Tumor)|p.R248W(HCC2157-Tumor)|p.R248W(LXF289-Tumor)|p.R248G(8505C-Tumor)|p.R248A(SF126-Tumor)|p.R248W(SET2-Tumor)|p.R248W(KO52-Tumor)|p.R248W(SNU1040-Tumor)|p.R248W(GCT-Tumor)|p.R248W(JIMT1-Tumor)|p.R248W(COLO320-Tumor)|p.R248W(CAS1-Tumor)|p.R248W(NCIH2106-Tumor)|p.R248W(SNUC5-Tumor)|p.R248W(COLO680N-Tumor)|p.R248W(RD-Tumor)	690	134.779548	KEEP	26	25	-1	23	26	26	25	-1	134.824206	23	26	0.525641	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	A			TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.2_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W	154	GBM-15-1444-TP	p.R248W	G	ATGGGCCTCCGGTTCATGCCG	NM_001126112	NP_001119584	7577539	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	936	-	A	A		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	248		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).			
TP53	0	broad.mit.edu	GRCh37	17	7578395	7578395	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01	TCGA-16-0846-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.535C>T	p.His179Tyr	p.H179Y	ENST00000269305	NM_001126112.2	179	Cat/Tat	0			1			A	H/Y	uc002gim.2	protein_coding	YES	CCDS11118.1		111	535/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	pathogenic		p.H179R(99)|p.H179Y(74)|p.H179L(31)|p.H179Q(17)|p.H179N(13)|p.H179D(10)|p.P177_C182delPHHERC(8)|p.0?(7)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.R175_E180delRCPHHE(3)|p.H179fs*68(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(535-537)CAT>TAT		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-May									rs587780070,TP53_g.12523C>T,COSM10768,COSM129848,COSM129849,COSM129851,COSM3388203,COSM1709730,COSM129850	11-May	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7578395G>A	11998			MODERATE		2.97	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=H179Y	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=H179Y	getma.org/?cm=var&var=hg19,17,7578395,G,A&fts=all	H179Y	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Missense_Mutation_p.H179Y|TP53_uc002gih.2_Missense_Mutation_p.H179Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47Y|TP53_uc010cng.1_Missense_Mutation_p.H47Y|TP53_uc002gii.1_Missense_Mutation_p.H47Y|TP53_uc010cnh.1_Missense_Mutation_p.H179Y|TP53_uc010cni.1_Missense_Mutation_p.H179Y|TP53_uc002gij.2_Missense_Mutation_p.H179Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86Y|TP53_uc002gio.2_Missense_Mutation_p.H47Y|TP53_uc010vug.1_Missense_Mutation_p.H140Y	1,0,1,1,1,1,1,1,1	1		probably_damaging(1)	p.H179Y	NM_001126112	NP_001119584		deleterious(0)	0,0,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		5	729	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	179		H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	SNV	TP53,missense_variant,p.His179Tyr,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.His179Tyr,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.His179Tyr,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.His179Tyr,ENST00000445888,;TP53,missense_variant,p.His179Tyr,ENST00000359597,;TP53,missense_variant,p.His179Tyr,ENST00000413465,;TP53,missense_variant,p.His47Tyr,ENST00000509690,;TP53,missense_variant,p.His86Tyr,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,non_coding_transcript_exon_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	uc002gim.2	c.535C>T	725/2579	2	2		111	c.535C>T	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(535-537)CAT>TAT	42	42		p.H179R(99)|p.H179Y(74)|p.H179L(31)|p.H179Q(17)|p.H179N(13)|p.H179D(10)|p.P177_C182delPHHERC(8)|p.0?(7)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.R175_E180delRCPHHE(3)|p.H179fs*68(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7578395	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.642	ENSG00000141510	16131	g.chr17:7578395G>A	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.R174fs(THP1-Tumor)|p.H179D(FUOV1-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.R174fs(THP1-Tumor)|p.H179D(FUOV1-Tumor)	690	113.681411	KEEP	26	17	-1	18	15	26	17	-1	114.188191	18	15	0.596774	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	A			TP53_uc002gig.1_Missense_Mutation_p.H179Y|TP53_uc002gih.2_Missense_Mutation_p.H179Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47Y|TP53_uc010cng.1_Missense_Mutation_p.H47Y|TP53_uc002gii.1_Missense_Mutation_p.H47Y|TP53_uc010cnh.1_Missense_Mutation_p.H179Y|TP53_uc010cni.1_Missense_Mutation_p.H179Y|TP53_uc002gij.2_Missense_Mutation_p.H179Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86Y|TP53_uc002gio.2_Missense_Mutation_p.H47Y|TP53_uc010vug.1_Missense_Mutation_p.H140Y	155	GBM-16-0846-TP	p.H179Y	G	CAGCGCTCATGGTGGGGGCAG	NM_001126112	NP_001119584	7578395	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	729	-	A	A		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	179		H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.		
TP53	0	broad.mit.edu	GRCh37	17	7578235	7578235	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-2625-01	TCGA-19-2625-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.614A>G	p.Tyr205Cys	p.Y205C	ENST00000269305	NM_001126112.2	205	tAt/tGt	0			1			C	Y/C	uc002gim.2	protein_coding	YES	CCDS11118.1		111	614/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.Y205C(55)|p.Y205D(13)|p.Y205S(11)|p.Y205F(8)|p.0?(7)|p.Y205H(5)|p.Y205*(4)|p.Y205N(2)|p.K164_P219del(1)|p.Y205fs*42(1)|p.Y112C(1)|p.Y205fs*43(1)|p.E204fs*39(1)|p.Y73C(1)|p.E204_N210delEYLDDRN(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(613-615)TAT>TGT		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-Jun									TP53_g.12683A>G,COSM43947,COSM99633,COSM99630,COSM99631,COSM3378351,COSM1649393,COSM99632	11-Jun	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7578235T>C	11998			MODERATE		2.99	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=Y205C	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=Y205C	getma.org/?cm=var&var=hg19,17,7578235,T,C&fts=all	Y205C	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Missense_Mutation_p.Y205C|TP53_uc002gih.2_Missense_Mutation_p.Y205C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y73C|TP53_uc010cng.1_Missense_Mutation_p.Y73C|TP53_uc002gii.1_Missense_Mutation_p.Y73C|TP53_uc010cnh.1_Missense_Mutation_p.Y205C|TP53_uc010cni.1_Missense_Mutation_p.Y205C|TP53_uc002gij.2_Missense_Mutation_p.Y205C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y112C|TP53_uc002gio.2_Missense_Mutation_p.Y73C|TP53_uc010vug.1_Missense_Mutation_p.Y166C	0,1,1,1,1,1,1,1	1		probably_damaging(0.99)	p.Y205C	NM_001126112	NP_001119584		deleterious(0)	0,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		6	808	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	205		Y -> N (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> C (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Tyr205Cys,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Tyr205Cys,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Tyr205Cys,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Tyr205Cys,ENST00000445888,;TP53,missense_variant,p.Tyr205Cys,ENST00000359597,;TP53,missense_variant,p.Tyr205Cys,ENST00000413465,;TP53,missense_variant,p.Tyr73Cys,ENST00000509690,;TP53,missense_variant,p.Tyr112Cys,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,intron_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	uc002gim.2	c.614A>G	804/2579	3	3		111	c.614A>G	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(613-615)TAT>TGT	14	14		p.Y205C(55)|p.Y205D(13)|p.Y205S(11)|p.Y205F(8)|p.0?(7)|p.Y205H(5)|p.Y205*(4)|p.Y205N(2)|p.K164_P219del(1)|p.Y205fs*42(1)|p.Y112C(1)|p.Y205fs*43(1)|p.E204fs*39(1)|p.Y73C(1)|p.E204_N210delEYLDDRN(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7578235	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.542	ENSG00000141510	16131	g.chr17:7578235T>C	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.Y205S(OCIAML2-Tumor)|p.Y205C(SJRH30-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.Y205S(OCIAML2-Tumor)|p.Y205C(SJRH30-Tumor)	690	85.950607	KEEP	11	18	-1	37	34	11	18	-1	88.988613	37	34	0.303371	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	C			TP53_uc002gig.1_Missense_Mutation_p.Y205C|TP53_uc002gih.2_Missense_Mutation_p.Y205C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y73C|TP53_uc010cng.1_Missense_Mutation_p.Y73C|TP53_uc002gii.1_Missense_Mutation_p.Y73C|TP53_uc010cnh.1_Missense_Mutation_p.Y205C|TP53_uc010cni.1_Missense_Mutation_p.Y205C|TP53_uc002gij.2_Missense_Mutation_p.Y205C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y112C|TP53_uc002gio.2_Missense_Mutation_p.Y73C|TP53_uc010vug.1_Missense_Mutation_p.Y166C	165	GBM-19-2625-TP	p.Y205C	T	GTCATCCAAATACTCCACACG	NM_001126112	NP_001119584	7578235	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	808	-	C	C		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	205		Y -> N (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> C (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	0	broad.mit.edu	GRCh37	17	7578555	7578555	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T			TCGA-19-2629-01	TCGA-19-2629-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.376-1G>A		p.X126_splice	ENST00000269305	NM_001126112.2			0			1			T		uc002gim.2	protein_coding	YES	CCDS11118.1		111	376/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.?(31)|p.0?(7)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.e5-1		Other_conserved_DNA_damage_response_genes		tumor protein p53 isoform a				ENSP00000269305											TP53_g.12363G>A,COSM21572,COSM6900,COSM218537,COSM218536,COSM3378369,COSM2156353,COSM218538		.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7578555C>T	11998			HIGH	10-Apr							--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Splice_Site_p.Y126_splice|TP53_uc002gih.2_Splice_Site_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Splice_Site_p.Y126_splice|TP53_uc010cni.1_Splice_Site_p.Y126_splice|TP53_uc002gij.2_Splice_Site_p.Y126_splice|TP53_uc010cnj.1_Splice_Site|TP53_uc002gin.2_Splice_Site_p.Y33_splice|TP53_uc002gio.2_Splice_Site|TP53_uc010vug.1_Splice_Site_p.Y87_splice	0,1,1,1,1,1,1,1	1			p.Y126_splice	NM_001126112	NP_001119584			0,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		5	570	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67						SNV	TP53,splice_acceptor_variant,,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,splice_acceptor_variant,,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,splice_acceptor_variant,,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,splice_acceptor_variant,,ENST00000445888,;TP53,splice_acceptor_variant,,ENST00000359597,;TP53,splice_acceptor_variant,,ENST00000413465,;TP53,splice_acceptor_variant,,ENST00000509690,;TP53,splice_acceptor_variant,,ENST00000508793,;TP53,splice_acceptor_variant,,ENST00000503591,;TP53,splice_acceptor_variant,,ENST00000514944,;TP53,intron_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,splice_acceptor_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;	uc002gim.2	c.376_splice	-/2579	5	2		111	c.376_splice	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.e5-1	36	36		p.?(31)|p.0?(7)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7578555	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.552	ENSG00000141510	16131	g.chr17:7578555C>T	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	(F36P-Tumor)|(BICR56-Tumor)|(OVCAR8-Tumor)|(BECKER-Tumor)|(CORL279-Tumor)|(SNU201-Tumor)	690	Pancreas(47;798 1329 9957 10801)	(F36P-Tumor)|(BICR56-Tumor)|(OVCAR8-Tumor)|(BECKER-Tumor)|(CORL279-Tumor)|(SNU201-Tumor)	690	67.83436	KEEP	5	14	-1	7	4	5	14	-1	68.304262	7	4	0.633333	1	0	0	0	0	0	0	0	1	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	T			TP53_uc002gig.1_Splice_Site_p.Y126_splice|TP53_uc002gih.2_Splice_Site_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Splice_Site_p.Y126_splice|TP53_uc010cni.1_Splice_Site_p.Y126_splice|TP53_uc002gij.2_Splice_Site_p.Y126_splice|TP53_uc010cnj.1_Splice_Site|TP53_uc002gin.2_Splice_Site_p.Y33_splice|TP53_uc002gio.2_Splice_Site|TP53_uc010vug.1_Splice_Site_p.Y87_splice	166	GBM-19-2629-TP	p.Y126_splice	C	CAGGGGAGTACTGTAGGAAGA	NM_001126112	NP_001119584	7578555	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	570	-	T	T		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Splice_Site							
TP53	0	broad.mit.edu	GRCh37	17	7577121	7577121	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-26-1442-01	TCGA-26-1442-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.817C>T	p.Arg273Cys	p.R273C	ENST00000269305	NM_001126112.2	273	Cgt/Tgt	0			1			A	R/C	uc002gim.2	protein_coding	YES	CCDS11118.1	R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	817/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	uncertain_significance,pathogenic		p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(817-819)CGT>TGT		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-Aug									rs121913343,TP53_g.13797C>T,COSM10659,COSM99933,COSM3355991,COSM1645518	11-Aug	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7577121G>A	11998			MODERATE		3.145	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=R273C	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=R273C	getma.org/?cm=var&var=hg19,17,7577121,G,A&fts=all	R273C	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C	1,0,1,1,1,1	1		probably_damaging(0.998)	p.R273C	NM_001126112	NP_001119584		deleterious(0)	0,0,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		8	1011	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	273		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Arg273Cys,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Arg273Cys,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Arg273Cys,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Arg273Cys,ENST00000445888,;TP53,missense_variant,p.Arg273Cys,ENST00000359597,;TP53,missense_variant,p.Arg141Cys,ENST00000509690,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,downstream_gene_variant,,ENST00000505014,;	uc002gim.2	c.817C>T	1007/2579	1	1	R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	c.817C>T	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(817-819)CGT>TGT	62	62		p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7577121	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.542	ENSG00000141510	16131	g.chr17:7577121G>A	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.R273C(SUDHL4-Tumor)|p.R273C(EFO27-Tumor)|p.R273C(SH10TC-Tumor)|p.R273C(TGBC11TKB-Tumor)|p.R273C(KARPAS299-Tumor)|p.R273C(SW1710-Tumor)|p.R273Y(SNUC2A-Tumor)|p.R273C(TT2609C02-Tumor)|p.R273Y(PF382-Tumor)|p.R273Y(SW1783-Tumor)|p.R273C(RPMI8402-Tumor)|p.R273C(BL70-Tumor)|p.R273C(8305C-Tumor)|p.R273C(SW1088-Tumor)|p.R273C(NCIH1048-Tumor)|p.R273C(SNU1196-Tumor)|p.R273C(CL14-Tumor)|p.R273C(SJRH30-Tumor)|p.R273C(MFE319-Tumor)|p.R273C(PANC02.13-Tumor)|p.R273C(8MGBA-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.R273C(SUDHL4-Tumor)|p.R273C(EFO27-Tumor)|p.R273C(SH10TC-Tumor)|p.R273C(TGBC11TKB-Tumor)|p.R273C(KARPAS299-Tumor)|p.R273C(SW1710-Tumor)|p.R273Y(SNUC2A-Tumor)|p.R273C(TT2609C02-Tumor)|p.R273Y(PF382-Tumor)|p.R273Y(SW1783-Tumor)|p.R273C(RPMI8402-Tumor)|p.R273C(BL70-Tumor)|p.R273C(8305C-Tumor)|p.R273C(SW1088-Tumor)|p.R273C(NCIH1048-Tumor)|p.R273C(SNU1196-Tumor)|p.R273C(CL14-Tumor)|p.R273C(SJRH30-Tumor)|p.R273C(MFE319-Tumor)|p.R273C(PANC02.13-Tumor)|p.R273C(8MGBA-Tumor)	690	48.729597	KEEP	9	8	-1	8	4	9	8	-1	48.943245	8	4	0.592593	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	A			TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C	180	GBM-26-1442-TP	p.R273C	G	GCACAAACACGCACCTCAAAG	NM_001126112	NP_001119584	7577121	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1011	-	A	A		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	273		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	0	broad.mit.edu	GRCh37	17	7577580	7577580	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-26-5133-01	TCGA-26-5133-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.701A>G	p.Tyr234Cys	p.Y234C	ENST00000269305	NM_001126112.2	234	tAc/tGc	0			1			C	Y/C	uc002gim.2	protein_coding	YES	CCDS11118.1		111	701/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	pathogenic		p.Y234C(70)|p.Y234H(13)|p.Y234N(11)|p.0?(7)|p.Y234S(6)|p.Y234*(4)|p.Y234D(3)|p.Y234del(3)|p.Y234fs*2(1)|p.V225fs*23(1)|p.Y234fs*6(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.Y234R(1)|p.Y234Y(1)|p.H233_C242del10(1)|p.D228fs*12(1)|p.Y234F(1)|p.I232_Y236delIHYNY(1)|p.Y141S(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234_N235insX(1)|p.I232fs*5(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(700-702)TAC>TGC		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-Jul									rs587780073,TP53_g.13338A>G,COSM10725,COSM165073,COSM165072,COSM3388193,COSM1646849,COSM165074	11-Jul	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7577580T>C	11998			MODERATE		2.93	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=Y234C	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=Y234C	getma.org/?cm=var&var=hg19,17,7577580,T,C&fts=all	Y234C	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Missense_Mutation_p.Y234C|TP53_uc002gih.2_Missense_Mutation_p.Y234C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y102C|TP53_uc010cng.1_Missense_Mutation_p.Y102C|TP53_uc002gii.1_Missense_Mutation_p.Y102C|TP53_uc010cnh.1_Missense_Mutation_p.Y234C|TP53_uc010cni.1_Missense_Mutation_p.Y234C|TP53_uc002gij.2_Missense_Mutation_p.Y234C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y141C|TP53_uc002gio.2_Missense_Mutation_p.Y102C	1,0,1,1,1,1,1,1	1		probably_damaging(0.992)	p.Y234C	NM_001126112	NP_001119584		deleterious(0)	0,0,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		7	895	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	234		Y -> F (in a sporadic cancer; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Tyr234Cys,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Tyr234Cys,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Tyr234Cys,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Tyr234Cys,ENST00000445888,;TP53,missense_variant,p.Tyr234Cys,ENST00000359597,;TP53,missense_variant,p.Tyr234Cys,ENST00000413465,;TP53,missense_variant,p.Tyr102Cys,ENST00000509690,;TP53,missense_variant,p.Tyr141Cys,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,non_coding_transcript_exon_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,downstream_gene_variant,,ENST00000505014,;	uc002gim.2	c.701A>G	891/2579	4	4		111	c.701A>G	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(700-702)TAC>TGC	42	42		p.Y234C(70)|p.Y234H(13)|p.Y234N(11)|p.0?(7)|p.Y234S(6)|p.Y234*(4)|p.Y234D(3)|p.Y234del(3)|p.Y234fs*2(1)|p.V225fs*23(1)|p.Y234fs*6(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.Y234R(1)|p.Y234Y(1)|p.H233_C242del10(1)|p.D228fs*12(1)|p.Y234F(1)|p.I232_Y236delIHYNY(1)|p.Y141S(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234_N235insX(1)|p.I232fs*5(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7577580	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.572	ENSG00000141510	16131	g.chr17:7577580T>C	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.I232fs(HDMYZ-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.I232fs(HDMYZ-Tumor)	690	176.062713	KEEP	15	35	-1	5	5	15	35	-1	181.796044	5	5	0.843137	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	C			TP53_uc002gig.1_Missense_Mutation_p.Y234C|TP53_uc002gih.2_Missense_Mutation_p.Y234C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y102C|TP53_uc010cng.1_Missense_Mutation_p.Y102C|TP53_uc002gii.1_Missense_Mutation_p.Y102C|TP53_uc010cnh.1_Missense_Mutation_p.Y234C|TP53_uc010cni.1_Missense_Mutation_p.Y234C|TP53_uc002gij.2_Missense_Mutation_p.Y234C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y141C|TP53_uc002gio.2_Missense_Mutation_p.Y102C	182	GBM-26-5133-TP	p.Y234C	T	CATGTAGTTGTAGTGGATGGT	NM_001126112	NP_001119584	7577580	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	895	-	C	C		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	234		Y -> F (in a sporadic cancer; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	0	broad.mit.edu	GRCh37	17	7578534	7578534	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-26-5136-01	TCGA-26-5136-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.396G>T	p.Lys132Asn	p.K132N	ENST00000269305	NM_001126112.2	132	aaG/aaT	0			1			A	K/N	uc002gim.2	protein_coding	YES	CCDS11118.1		111	396/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.K132N(40)|p.K132R(32)|p.K132E(19)|p.K132Q(13)|p.K132M(9)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.K132T(4)|p.K132*(2)|p.N131fs*27(2)|p.K132fs*38(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.M133fs*16(1)|p.V73fs*9(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.K132_A138delKMFCQLA(1)|p.S127fs*36(1)|p.K132K(1)|p.K132W(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(394-396)AAG>AAT		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-May									TP53_g.12384G>T,COSM10991,COSM213187,COSM213186,COSM3403291,COSM2157115,COSM213188	11-May	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7578534C>A	11998			MODERATE		3.24	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=K132N	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=K132N	getma.org/?cm=var&var=hg19,17,7578534,C,A&fts=all	K132N	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Missense_Mutation_p.K132N|TP53_uc002gih.2_Missense_Mutation_p.K132N|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.K132N|TP53_uc010cni.1_Missense_Mutation_p.K132N|TP53_uc002gij.2_Missense_Mutation_p.K132N|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.K39N|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.K93N	0,1,1,1,1,1,1	1		probably_damaging(1)	p.K132N	NM_001126112	NP_001119584		deleterious(0)	0,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		5	590	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	132		K -> T (in sporadic cancers; somatic mutation).|KM -> NL (in a sporadic cancer; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> R (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> Q (in sporadic cancers; somatic mutation).|K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,splice_acceptor_variant,,ENST00000604348,;TP53,missense_variant,p.Lys132Asn,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Lys132Asn,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Lys132Asn,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Lys132Asn,ENST00000445888,;TP53,missense_variant,p.Lys132Asn,ENST00000359597,;TP53,missense_variant,p.Lys132Asn,ENST00000413465,;TP53,missense_variant,p.Lys132Asn,ENST00000508793,;TP53,missense_variant,p.Lys39Asn,ENST00000514944,;TP53,5_prime_UTR_variant,,ENST00000509690,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	uc002gim.2	c.396G>T	586/2579	2	2		111	c.396G>T	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(394-396)AAG>AAT	39	39		p.K132N(40)|p.K132R(32)|p.K132E(19)|p.K132Q(13)|p.K132M(9)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.K132T(4)|p.K132*(2)|p.N131fs*27(2)|p.K132fs*38(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.M133fs*16(1)|p.V73fs*9(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.K132_A138delKMFCQLA(1)|p.S127fs*36(1)|p.K132K(1)|p.K132W(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7578534	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.562	ENSG00000141510	16131	g.chr17:7578534C>A	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.K132N(EJM-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.K132N(EJM-Tumor)	690	160.551212	KEEP	41	20	0.327868852	8	7	41	20	0.327868852	165.406044	8	7	0.784615	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	A			TP53_uc002gig.1_Missense_Mutation_p.K132N|TP53_uc002gih.2_Missense_Mutation_p.K132N|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.K132N|TP53_uc010cni.1_Missense_Mutation_p.K132N|TP53_uc002gij.2_Missense_Mutation_p.K132N|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.K39N|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.K93N	185	GBM-26-5136-TP	p.K132N	C	GGCAAAACATCTTGTTGAGGG	NM_001126112	NP_001119584	7578534	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	590	-	A	A		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	132		K -> T (in sporadic cancers; somatic mutation).|KM -> NL (in a sporadic cancer; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> R (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> Q (in sporadic cancers; somatic mutation).|K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	0	broad.mit.edu	GRCh37	17	7578217	7578217	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1836-01	TCGA-27-1836-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.632C>T	p.Thr211Ile	p.T211I	ENST00000269305	NM_001126112.2	211	aCt/aTt	0			1			A	T/I	uc002gim.2	protein_coding	YES	CCDS11118.1		111	632/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.T211T(9)|p.T211I(7)|p.0?(7)|p.T211N(4)|p.T211fs*4(3)|p.R209fs*35(2)|p.T211A(2)|p.T211fs*36(2)|p.T211fs*5(2)|p.D208fs*1(1)|p.T211_F212insX(1)|p.R209_R213delRNTFR(1)|p.D207_R213delDDRNTFR(1)|p.T211fs*28(1)|p.T211_S215delTFRHS(1)|p.K164_P219del(1)|p.D207_V216del10(1)|p.T211P(1)|p.T211S(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(631-633)ACT>ATT		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-Jun									TP53_g.12701C>T,COSM43939,COSM1386676,COSM1386677,COSM1386679,COSM3403266,COSM2744750,COSM1386678	11-Jun	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7578217G>A	11998			MODERATE		2.955	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=T211I	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=T211I	getma.org/?cm=var&var=hg19,17,7578217,G,A&fts=all	T211I	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Missense_Mutation_p.T211I|TP53_uc002gih.2_Missense_Mutation_p.T211I|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.T79I|TP53_uc010cng.1_Missense_Mutation_p.T79I|TP53_uc002gii.1_Missense_Mutation_p.T79I|TP53_uc010cnh.1_Missense_Mutation_p.T211I|TP53_uc010cni.1_Missense_Mutation_p.T211I|TP53_uc002gij.2_Missense_Mutation_p.T211I|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.T118I|TP53_uc002gio.2_Missense_Mutation_p.T79I|TP53_uc010vug.1_Missense_Mutation_p.T172I	0,1,1,1,1,1,1,1	1		probably_damaging(0.96)	p.T211I	NM_001126112	NP_001119584		deleterious(0.02)	0,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		6	826	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	211		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> N (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Thr211Ile,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Thr211Ile,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Thr211Ile,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Thr211Ile,ENST00000445888,;TP53,missense_variant,p.Thr211Ile,ENST00000359597,;TP53,missense_variant,p.Thr211Ile,ENST00000413465,;TP53,missense_variant,p.Thr79Ile,ENST00000509690,;TP53,missense_variant,p.Thr118Ile,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,intron_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	uc002gim.2	c.632C>T	822/2579	1	1		111	c.632C>T	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(631-633)ACT>ATT	56	56		p.T211T(9)|p.T211I(7)|p.0?(7)|p.T211N(4)|p.T211fs*4(3)|p.R209fs*35(2)|p.T211A(2)|p.T211fs*36(2)|p.T211fs*5(2)|p.D208fs*1(1)|p.T211_F212insX(1)|p.R209_R213delRNTFR(1)|p.D207_R213delDDRNTFR(1)|p.T211fs*28(1)|p.T211_S215delTFRHS(1)|p.K164_P219del(1)|p.D207_V216del10(1)|p.T211P(1)|p.T211S(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7578217	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.532	ENSG00000141510	16131	g.chr17:7578217G>A	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.T211I(42MGBA-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.T211I(42MGBA-Tumor)	690	54.059566	KEEP	9	13	-1	38	35	9	13	-1	59.139709	38	35	0.240964	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	A			TP53_uc002gig.1_Missense_Mutation_p.T211I|TP53_uc002gih.2_Missense_Mutation_p.T211I|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.T79I|TP53_uc010cng.1_Missense_Mutation_p.T79I|TP53_uc002gii.1_Missense_Mutation_p.T79I|TP53_uc010cnh.1_Missense_Mutation_p.T211I|TP53_uc010cni.1_Missense_Mutation_p.T211I|TP53_uc002gij.2_Missense_Mutation_p.T211I|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.T118I|TP53_uc002gio.2_Missense_Mutation_p.T79I|TP53_uc010vug.1_Missense_Mutation_p.T172I	195	GBM-27-1836-TP	p.T211I	G	ATGTCGAAAAGTGTTTCTGTC	NM_001126112	NP_001119584	7578217	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	826	-	A	A		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	211		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> N (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	0	broad.mit.edu	GRCh37	17	7577114	7577114	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01	TCGA-27-1838-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.824G>A	p.Cys275Tyr	p.C275Y	ENST00000269305	NM_001126112.2	275	tGt/tAt	0			1			T	C/Y	uc002gim.2	protein_coding	YES	CCDS11118.1		111	824/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.C275Y(44)|p.C275F(34)|p.C275G(7)|p.C275W(7)|p.0?(7)|p.C275R(6)|p.C275C(4)|p.C275fs*70(2)|p.C275fs*31(2)|p.?(2)|p.C275S(2)|p.R273_C275delRVC(1)|p.C275_A276ins10(1)|p.V274_P278del(1)|p.C275*(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275fs*20(1)|p.A276fs*29(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(823-825)TGT>TAT		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-Aug									TP53_g.13804G>A,COSM10893,COSM165084,COSM3403255,COSM2744531	11-Aug	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7577114C>T	11998			MODERATE		3.34	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=C275Y	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=C275Y	getma.org/?cm=var&var=hg19,17,7577114,C,T&fts=all	C275Y	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.C275Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C143Y|TP53_uc010cng.1_Missense_Mutation_p.C143Y|TP53_uc002gii.1_Missense_Mutation_p.C143Y|TP53_uc010cnh.1_Missense_Mutation_p.C275Y|TP53_uc010cni.1_Missense_Mutation_p.C275Y|TP53_uc002gij.2_Missense_Mutation_p.C275Y	0,1,1,1,1	1		probably_damaging(0.994)	p.C275Y	NM_001126112	NP_001119584		deleterious(0)	0,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		8	1018	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	275		C -> S (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Cys275Tyr,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Cys275Tyr,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Cys275Tyr,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Cys275Tyr,ENST00000445888,;TP53,missense_variant,p.Cys275Tyr,ENST00000359597,;TP53,missense_variant,p.Cys143Tyr,ENST00000509690,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,downstream_gene_variant,,ENST00000505014,;	uc002gim.2	c.824G>A	1014/2579	2	2		111	c.824G>A	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(823-825)TGT>TAT	46	46		p.C275Y(44)|p.C275F(34)|p.C275G(7)|p.C275W(7)|p.0?(7)|p.C275R(6)|p.C275C(4)|p.C275fs*70(2)|p.C275fs*31(2)|p.?(2)|p.C275S(2)|p.R273_C275delRVC(1)|p.C275_A276ins10(1)|p.V274_P278del(1)|p.C275*(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275fs*20(1)|p.A276fs*29(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7577114	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.552	ENSG00000141510	16131	g.chr17:7577114C>T	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.C275Y(GI1-Tumor)|p.C275F(CHAGOK1-Tumor)|p.V274fs(SCC9-Tumor)|p.C275F(JHOM2B-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.C275Y(GI1-Tumor)|p.C275F(CHAGOK1-Tumor)|p.V274fs(SCC9-Tumor)|p.C275F(JHOM2B-Tumor)	690	88.546844	KEEP	13	18	-1	15	14	13	18	-1	88.580831	15	14	0.526316	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	T			TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.C275Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C143Y|TP53_uc010cng.1_Missense_Mutation_p.C143Y|TP53_uc002gii.1_Missense_Mutation_p.C143Y|TP53_uc010cnh.1_Missense_Mutation_p.C275Y|TP53_uc010cni.1_Missense_Mutation_p.C275Y|TP53_uc002gij.2_Missense_Mutation_p.C275Y	197	GBM-27-1838-TP	p.C275Y	C	AGGACAGGCACAAACACGCAC	NM_001126112	NP_001119584	7577114	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1018	-	T	T		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	275		C -> S (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	0	broad.mit.edu	GRCh37	17	7577610	7577610	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C			TCGA-27-1838-01	TCGA-27-1838-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.673-2A>G		p.X225_splice	ENST00000269305	NM_001126112.2			0			1			C		uc002gim.2	protein_coding	YES	CCDS11118.1		111	673/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.?(22)|p.0?(7)|p.V225fs*24(1)|p.E224_V225insXX(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.e7-1		Other_conserved_DNA_damage_response_genes		tumor protein p53 isoform a				ENSP00000269305											TP53_g.13308A>G,COSM6908,COSM25225,COSM119001,COSM118999,COSM3742466,COSM1649397,COSM119000		.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7577610T>C	11998			HIGH	10-Jun							--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Splice_Site_p.V225_splice|TP53_uc002gih.2_Splice_Site_p.V225_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_p.V93_splice|TP53_uc010cng.1_Splice_Site_p.V93_splice|TP53_uc002gii.1_Splice_Site_p.V93_splice|TP53_uc010cnh.1_Splice_Site_p.V225_splice|TP53_uc010cni.1_Splice_Site_p.V225_splice|TP53_uc002gij.2_Splice_Site_p.V225_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron	0,1,1,1,1,1,1,1	1			p.V225_splice	NM_001126112	NP_001119584			0,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		7	867	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67						SNV	TP53,splice_acceptor_variant,,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,splice_acceptor_variant,,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,splice_acceptor_variant,,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,splice_acceptor_variant,,ENST00000445888,;TP53,splice_acceptor_variant,,ENST00000359597,;TP53,splice_acceptor_variant,,ENST00000413465,;TP53,splice_acceptor_variant,,ENST00000509690,;TP53,splice_acceptor_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,splice_acceptor_variant,,ENST00000574684,;TP53,splice_acceptor_variant,,ENST00000510385,;TP53,splice_acceptor_variant,,ENST00000504290,;TP53,splice_acceptor_variant,,ENST00000504937,;TP53,downstream_gene_variant,,ENST00000505014,;	uc002gim.2	c.673_splice	-/2579	5	3		111	c.673_splice	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.e7-1	54	54		p.?(22)|p.0?(7)|p.V225fs*24(1)|p.E224_V225insXX(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7577610	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.483	ENSG00000141510	16131	g.chr17:7577610T>C	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	(MHHES1-Tumor)|(TF1-Tumor)|(NCIH1092-Tumor)|(HCC1599-Tumor)|(NCIH209-Tumor)|(OCIM1-Tumor)|(KYSE30-Tumor)|(NCIH1650-Tumor)	690	Pancreas(47;798 1329 9957 10801)	(MHHES1-Tumor)|(TF1-Tumor)|(NCIH1092-Tumor)|(HCC1599-Tumor)|(NCIH209-Tumor)|(OCIM1-Tumor)|(KYSE30-Tumor)|(NCIH1650-Tumor)	690	58.937226	KEEP	6	14	-1	19	18	6	14	-1	60.140693	19	18	0.339623	1	0	0	0	0	0	0	0	1	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	C			TP53_uc002gig.1_Splice_Site_p.V225_splice|TP53_uc002gih.2_Splice_Site_p.V225_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_p.V93_splice|TP53_uc010cng.1_Splice_Site_p.V93_splice|TP53_uc002gii.1_Splice_Site_p.V93_splice|TP53_uc010cnh.1_Splice_Site_p.V225_splice|TP53_uc010cni.1_Splice_Site_p.V225_splice|TP53_uc002gij.2_Splice_Site_p.V225_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron	197	GBM-27-1838-TP	p.V225_splice	T	AGAGCCAACCTAGGAGATAAC	NM_001126112	NP_001119584	7577610	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	867	-	C	C		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Splice_Site							
TP53	0	broad.mit.edu	GRCh37	17	7577094	7577094	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs28934574		TCGA-27-2519-01	TCGA-27-2519-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.844delC	p.Arg282GlyfsTer63	p.R282Gfs*63	ENST00000269305	NM_001126112.2	282	Cgg/gg	0			1			-	R/X	uc002gim.2	protein_coding	YES	CCDS11118.1		111	844/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(844-846)CGGfs		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-Aug									TP53_g.13824del,COSM43813	11-Aug	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7577094delG	11998			HIGH								--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Del_p.R282fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.R150fs|TP53_uc010cng.1_Frame_Shift_Del_p.R150fs|TP53_uc002gii.1_Frame_Shift_Del_p.R150fs|TP53_uc010cnh.1_Frame_Shift_Del_p.R282fs|TP53_uc010cni.1_Frame_Shift_Del_p.R282fs|TP53_uc002gij.2_Frame_Shift_Del_p.R282fs	0,1	1			p.R282fs	NM_001126112	NP_001119584			0,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		8	1038	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	282		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		deletion	TP53,frameshift_variant,p.Arg282GlyfsTer69,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,frameshift_variant,p.Arg282GlyfsTer61,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,frameshift_variant,p.Arg282GlyfsTer63,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,frameshift_variant,p.Arg282GlyfsTer63,ENST00000445888,;TP53,frameshift_variant,p.Arg282GlyfsTer70,ENST00000359597,;TP53,frameshift_variant,p.Arg150GlyfsTer?,ENST00000509690,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,downstream_gene_variant,,ENST00000505014,;	uc002gim.2	c.844delC	1034/2579	5	5		111	c.844delC	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	DEL	c.(844-846)CGGfs	55	55		p.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7577094	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.557	ENSG00000141510	16131	g.chr17:7577094delG	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.R282G(NCIH510-Tumor)|p.R282W(HUPT3-Tumor)|p.V274fs(SCC9-Tumor)|p.R282W(CAL29-Tumor)|p.R282W(EFE184-Tumor)|p.R282W(OVKATE-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.R282G(NCIH510-Tumor)|p.R282W(HUPT3-Tumor)|p.V274fs(SCC9-Tumor)|p.R282W(CAL29-Tumor)|p.R282W(EFE184-Tumor)|p.R282W(OVKATE-Tumor)	690														0.62	1	1	0	1	0	0	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	-			TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Del_p.R282fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.R150fs|TP53_uc010cng.1_Frame_Shift_Del_p.R150fs|TP53_uc002gii.1_Frame_Shift_Del_p.R150fs|TP53_uc010cnh.1_Frame_Shift_Del_p.R282fs|TP53_uc010cni.1_Frame_Shift_Del_p.R282fs|TP53_uc002gij.2_Frame_Shift_Del_p.R282fs	199	GBM-27-2519-TP	p.R282fs	G	TCTGTGCGCCGGTCTCTCCCA	NM_001126112	NP_001119584	7577094	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1038	-	-	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Frame_Shift_Del	282		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	0	broad.mit.edu	GRCh37	17	7577149	7577149	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-27-2521-01	TCGA-27-2521-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.789delT	p.Leu264TyrfsTer81	p.L264Yfs*81	ENST00000269305	NM_001126112.2	263	aaT/aa	0			1			-	N/X	uc002gim.2	protein_coding	YES	CCDS11118.1		111	789/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.0?(7)|p.N263fs*82(3)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.N263D(2)|p.N263I(2)|p.G262_S269delGNLLGRNS(2)|p.N263H(2)|p.E258fs*71(1)|p.S261_L264>R(1)|p.N263fs*84(1)|p.N263K(1)|p.G262fs*2(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(787-789)AATfs		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-Aug									TP53_g.13769del	11-Aug	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7577149delA	11998			HIGH								--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Del_p.N263fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.N131fs|TP53_uc010cng.1_Frame_Shift_Del_p.N131fs|TP53_uc002gii.1_Frame_Shift_Del_p.N131fs|TP53_uc010cnh.1_Frame_Shift_Del_p.N263fs|TP53_uc010cni.1_Frame_Shift_Del_p.N263fs|TP53_uc002gij.2_Frame_Shift_Del_p.N263fs		1			p.N263fs	NM_001126112	NP_001119584				P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		8	983	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	263		GN -> PD (in a sporadic cancer; somatic mutation).|N -> S (in a sporadic cancer; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> D (in sporadic cancers; somatic mutation).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		deletion	TP53,frameshift_variant,p.Leu264TyrfsTer87,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,frameshift_variant,p.Leu264TyrfsTer79,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,frameshift_variant,p.Leu264TyrfsTer81,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,frameshift_variant,p.Leu264TyrfsTer81,ENST00000445888,;TP53,frameshift_variant,p.Leu264TyrfsTer88,ENST00000359597,;TP53,frameshift_variant,p.Leu132TyrfsTer?,ENST00000509690,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,downstream_gene_variant,,ENST00000505014,;	uc002gim.2	c.789delT	979/2579	5	5		111	c.789delT	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	DEL	c.(787-789)AATfs	14	14		p.0?(7)|p.N263fs*82(3)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.N263D(2)|p.N263I(2)|p.G262_S269delGNLLGRNS(2)|p.N263H(2)|p.E258fs*71(1)|p.S261_L264>R(1)|p.N263fs*84(1)|p.N263K(1)|p.G262fs*2(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7577149	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.517	ENSG00000141510	16131	g.chr17:7577149delA	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)		690	Pancreas(47;798 1329 9957 10801)		690														0.95	1	1	0	1	0	0	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	-			TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Del_p.N263fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.N131fs|TP53_uc010cng.1_Frame_Shift_Del_p.N131fs|TP53_uc002gii.1_Frame_Shift_Del_p.N131fs|TP53_uc010cnh.1_Frame_Shift_Del_p.N263fs|TP53_uc010cni.1_Frame_Shift_Del_p.N263fs|TP53_uc002gij.2_Frame_Shift_Del_p.N263fs	200	GBM-27-2521-TP	p.N263fs	A	GTCCCAGTAGATTACCACTAC	NM_001126112	NP_001119584	7577149	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	983	-	-	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Frame_Shift_Del	263		GN -> PD (in a sporadic cancer; somatic mutation).|N -> S (in a sporadic cancer; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> D (in sporadic cancers; somatic mutation).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	0	broad.mit.edu	GRCh37	17	7577141	7577141	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-28-5207-01	TCGA-28-5207-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.797G>T	p.Gly266Val	p.G266V	ENST00000269305	NM_001126112.2	266	gGa/gTa	0			1			A	G/V	uc002gim.2	protein_coding	YES	CCDS11118.1		111	797/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.G266E(45)|p.G266R(42)|p.G266V(32)|p.G266*(12)|p.0?(7)|p.G266fs*79(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266G(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(796-798)GGA>GTA		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-Aug									TP53_g.13777G>T,COSM10958,COSM99952,COSM3388173,COSM1646803	11-Aug	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7577141C>A	11998			MODERATE		3.3	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=G266V	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=G266V	getma.org/?cm=var&var=hg19,17,7577141,C,A&fts=all	G266V	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.G266V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G134V|TP53_uc010cng.1_Missense_Mutation_p.G134V|TP53_uc002gii.1_Missense_Mutation_p.G134V|TP53_uc010cnh.1_Missense_Mutation_p.G266V|TP53_uc010cni.1_Missense_Mutation_p.G266V|TP53_uc002gij.2_Missense_Mutation_p.G266V	0,1,1,1,1	1		probably_damaging(0.999)	p.G266V	NM_001126112	NP_001119584		deleterious(0)	0,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		8	991	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	266		G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> A (in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Gly266Val,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Gly266Val,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Gly266Val,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Gly266Val,ENST00000445888,;TP53,missense_variant,p.Gly266Val,ENST00000359597,;TP53,missense_variant,p.Gly134Val,ENST00000509690,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,downstream_gene_variant,,ENST00000505014,;	uc002gim.2	c.797G>T	987/2579	2	2		111	c.797G>T	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(796-798)GGA>GTA	34	34		p.G266E(45)|p.G266R(42)|p.G266V(32)|p.G266*(12)|p.0?(7)|p.G266fs*79(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266G(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7577141	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.517	ENSG00000141510	16131	g.chr17:7577141C>A	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.G266E(DAUDI-Tumor)|p.G266E(MDAMB435S-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.G266E(DAUDI-Tumor)|p.G266E(MDAMB435S-Tumor)	690	41.714577	KEEP	7	8	0.533333333	10	14	7	8	0.533333333	42.083807	10	14	0.394737	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	A			TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.G266V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G134V|TP53_uc010cng.1_Missense_Mutation_p.G134V|TP53_uc002gii.1_Missense_Mutation_p.G134V|TP53_uc010cnh.1_Missense_Mutation_p.G266V|TP53_uc010cni.1_Missense_Mutation_p.G266V|TP53_uc002gij.2_Missense_Mutation_p.G266V	216	GBM-28-5207-TP	p.G266V	C	GCTGTTCCGTCCCAGTAGATT	NM_001126112	NP_001119584	7577141	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	991	-	A	A		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	266		G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> A (in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	0	broad.mit.edu	GRCh37	17	7577535	7577535	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-28-5216-01	TCGA-28-5216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.746G>T	p.Arg249Met	p.R249M	ENST00000269305	NM_001126112.2	249	aGg/aTg	0			1			A	R/M	uc002gim.2	protein_coding	YES	CCDS11118.1		111	746/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.R249S(303)|p.R249M(25)|p.R249G(24)|p.R249W(23)|p.R249T(16)|p.R249K(14)|p.0?(7)|p.R249R(6)|p.R249fs*96(6)|p.M246_P250delMNRRP(2)|p.R249fs*14(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R249_P250>SS(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*19(1)|p.R249_T256delRPILTIIT(1)|p.R249fs*15(1)|p.R249_I251delRPI(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(745-747)AGG>ATG		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,PROSITE_patterns:PS00348,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-Jul									TP53_g.13383G>T,COSM43871,COSM326724,COSM326723,COSM3388182,COSM1649403	11-Jul	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7577535C>A	11998			MODERATE		3.3	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=R249M	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=R249M	getma.org/?cm=var&var=hg19,17,7577535,C,A&fts=all	R249M	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Missense_Mutation_p.R249M|TP53_uc002gih.2_Missense_Mutation_p.R249M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R117M|TP53_uc010cng.1_Missense_Mutation_p.R117M|TP53_uc002gii.1_Missense_Mutation_p.R117M|TP53_uc010cnh.1_Missense_Mutation_p.R249M|TP53_uc010cni.1_Missense_Mutation_p.R249M|TP53_uc002gij.2_Missense_Mutation_p.R249M|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R156M|TP53_uc002gio.2_Missense_Mutation_p.R117M	0,1,1,1,1,1	1		probably_damaging(0.993)	p.R249M	NM_001126112	NP_001119584		deleterious(0)	0,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		7	940	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	249		R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> I (in a sporadic cancer; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Arg249Met,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Arg249Met,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Arg249Met,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Arg249Met,ENST00000445888,;TP53,missense_variant,p.Arg249Met,ENST00000359597,;TP53,missense_variant,p.Arg249Met,ENST00000413465,;TP53,missense_variant,p.Arg117Met,ENST00000509690,;TP53,incomplete_terminal_codon_variant,p.=,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,downstream_gene_variant,,ENST00000505014,;	uc002gim.2	c.746G>T	936/2579	1	1		111	c.746G>T	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(745-747)AGG>ATG	64	64		p.R249S(303)|p.R249M(25)|p.R249G(24)|p.R249W(23)|p.R249T(16)|p.R249K(14)|p.0?(7)|p.R249R(6)|p.R249fs*96(6)|p.M246_P250delMNRRP(2)|p.R249fs*14(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R249_P250>SS(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*19(1)|p.R249_T256delRPILTIIT(1)|p.R249fs*15(1)|p.R249_I251delRPI(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7577535	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.567	ENSG00000141510	16131	g.chr17:7577535C>A	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)		690	Pancreas(47;798 1329 9957 10801)		690	140.997894	KEEP	32	22	0.407407407	9	6	32	22	0.407407407	144.715465	9	6	0.762712	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	A			TP53_uc002gig.1_Missense_Mutation_p.R249M|TP53_uc002gih.2_Missense_Mutation_p.R249M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R117M|TP53_uc010cng.1_Missense_Mutation_p.R117M|TP53_uc002gii.1_Missense_Mutation_p.R117M|TP53_uc010cnh.1_Missense_Mutation_p.R249M|TP53_uc010cni.1_Missense_Mutation_p.R249M|TP53_uc002gij.2_Missense_Mutation_p.R249M|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R156M|TP53_uc002gio.2_Missense_Mutation_p.R117M	223	GBM-28-5216-TP	p.R249M	C	GAGGATGGGCCTCCGGTTCAT	NM_001126112	NP_001119584	7577535	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	940	-	A	A		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	249		R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> I (in a sporadic cancer; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	0	broad.mit.edu	GRCh37	17	7579699	7579699	+	splice_donor_variant	Splice_Site	SNP	C	C	T			TCGA-28-5219-01	TCGA-28-5219-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.96+1G>A		p.X32_splice	ENST00000269305	NM_001126112.2			0			1			T		uc002gim.2	protein_coding	YES	CCDS11118.1		111	96/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.0?(7)|p.?(2)|p.S33fs*10(1)|p.P13fs*18(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.e3+1		Other_conserved_DNA_damage_response_genes		tumor protein p53 isoform a				ENSP00000269305											TP53_g.11219G>A,COSM44435,COSM131538,COSM131539,COSM3403302,COSM3403301,COSM131540		.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7579699C>T	11998			HIGH	10-Mar							--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Splice_Site_p.L32_splice|TP53_uc002gih.2_Splice_Site_p.L32_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Splice_Site_p.L32_splice|TP53_uc010cni.1_Splice_Site_p.L32_splice|TP53_uc002gij.2_Splice_Site_p.L32_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Splice_Site_p.L32_splice|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Splice_Site|TP53_uc010cnk.1_Splice_Site_p.L47_splice	0,1,1,1,1,1,1	1			p.L32_splice	NM_001126112	NP_001119584			0,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		3	290	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67						SNV	TP53,splice_donor_variant,,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,splice_donor_variant,,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,splice_donor_variant,,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,splice_donor_variant,,ENST00000445888,;TP53,splice_donor_variant,,ENST00000359597,;TP53,splice_donor_variant,,ENST00000413465,;TP53,splice_donor_variant,,ENST00000508793,;TP53,splice_donor_variant,,ENST00000604348,;TP53,splice_donor_variant,,ENST00000503591,;TP53,splice_donor_variant,,ENST00000514944,;TP53,intron_variant,,ENST00000509690,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,splice_donor_variant,,ENST00000505014,;TP53,upstream_gene_variant,,ENST00000510385,;TP53,upstream_gene_variant,,ENST00000504290,;TP53,upstream_gene_variant,,ENST00000504937,;	uc002gim.2	c.96_splice	-/2579	5	2		111	c.96_splice	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.e3+1	32	32		p.0?(7)|p.?(2)|p.S33fs*10(1)|p.P13fs*18(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7579699	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.383	ENSG00000141510	16131	g.chr17:7579699C>T	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)		690	Pancreas(47;798 1329 9957 10801)		690	203.477421	KEEP	34	33	-1	17	14	34	33	-1	206.135204	17	14	0.681319	1	0	0	0	0	0	0	0	1	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	T			TP53_uc002gig.1_Splice_Site_p.L32_splice|TP53_uc002gih.2_Splice_Site_p.L32_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Splice_Site_p.L32_splice|TP53_uc010cni.1_Splice_Site_p.L32_splice|TP53_uc002gij.2_Splice_Site_p.L32_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Splice_Site_p.L32_splice|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Splice_Site|TP53_uc010cnk.1_Splice_Site_p.L47_splice	225	GBM-28-5219-TP	p.L32_splice	C	CTTGTCCTTACCAGAACGTTG	NM_001126112	NP_001119584	7579699	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	3	290	-	T	T		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Splice_Site							
TP53	0	broad.mit.edu	GRCh37	17	7577138	7577138	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-1970-01	TCGA-32-1970-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.800G>C	p.Arg267Pro	p.R267P	ENST00000269305	NM_001126112.2	267	cGg/cCg	0			1			G	R/P	uc002gim.2	protein_coding	YES	CCDS11118.1		111	800/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.R267W(20)|p.R267P(13)|p.0?(7)|p.R267Q(7)|p.R267R(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.R267fs*78(1)|p.N268fs*77(1)|p.L265_K305del41(1)|p.R267G(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.R267L(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(799-801)CGG>CCG		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-Aug									TP53_g.13780G>C,COSM11392,COSM707909,COSM3403257,COSM1646804	11-Aug	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7577138C>G	11998			MODERATE		3.145	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=R267P	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=R267P	getma.org/?cm=var&var=hg19,17,7577138,C,G&fts=all	R267P	0.55	neutral	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R267P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R135P|TP53_uc010cng.1_Missense_Mutation_p.R135P|TP53_uc002gii.1_Missense_Mutation_p.R135P|TP53_uc010cnh.1_Missense_Mutation_p.R267P|TP53_uc010cni.1_Missense_Mutation_p.R267P|TP53_uc002gij.2_Missense_Mutation_p.R267P	0,1,1,1,1	1		probably_damaging(0.997)	p.R267P	NM_001126112	NP_001119584		deleterious(0)	0,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		8	994	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	267		R -> H (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Arg267Pro,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Arg267Pro,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Arg267Pro,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Arg267Pro,ENST00000445888,;TP53,missense_variant,p.Arg267Pro,ENST00000359597,;TP53,missense_variant,p.Arg135Pro,ENST00000509690,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,downstream_gene_variant,,ENST00000505014,;	uc002gim.2	c.800G>C	990/2579	4	4		111	c.800G>C	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(799-801)CGG>CCG	18	18		p.R267W(20)|p.R267P(13)|p.0?(7)|p.R267Q(7)|p.R267R(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.R267fs*78(1)|p.N268fs*77(1)|p.L265_K305del41(1)|p.R267G(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.R267L(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7577138	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.527	ENSG00000141510	16131	g.chr17:7577138C>G	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.R267P(NCIH1437-Tumor)|p.R267P(JHH7-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.R267P(NCIH1437-Tumor)|p.R267P(JHH7-Tumor)	690	95.096725	KEEP	13	14	-1	3	1	13	14	-1	98.775485	3	1	0.862069	1	0	0	0	0	1	0	0	0	0.55	neutral	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	G			TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R267P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R135P|TP53_uc010cng.1_Missense_Mutation_p.R135P|TP53_uc002gii.1_Missense_Mutation_p.R135P|TP53_uc010cnh.1_Missense_Mutation_p.R267P|TP53_uc010cni.1_Missense_Mutation_p.R267P|TP53_uc002gij.2_Missense_Mutation_p.R267P	228	GBM-32-1970-TP	p.R267P	C	AAAGCTGTTCCGTCCCAGTAG	NM_001126112	NP_001119584	7577138	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	994	-	G	G		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	267		R -> H (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	0	broad.mit.edu	GRCh37	17	7577568	7577568	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-2491-01	TCGA-32-2491-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.713G>T	p.Cys238Phe	p.C238F	ENST00000269305	NM_001126112.2	238	tGt/tTt	0			1			A	C/F	uc002gim.2	protein_coding	YES	CCDS11118.1		111	713/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.C238Y(47)|p.C238F(34)|p.C238S(18)|p.C238R(14)|p.0?(7)|p.C238*(4)|p.C238W(2)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.C238fs*9(1)|p.M237_N239delMCN(1)|p.C238fs*21(1)|p.C238del(1)|p.C238G(1)|p.C238C(1)|p.M237fs*1(1)|p.C145F(1)|p.H233fs*6(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.M237_C238insX(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(712-714)TGT>TTT		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,PROSITE_patterns:PS00348,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-Jul									TP53_g.13350G>T,COSM43778,COSM99626,COSM99624,COSM3403263,COSM2744631,COSM99625	11-Jul	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7577568C>A	11998			MODERATE		3.365	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=C238F	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=C238F	getma.org/?cm=var&var=hg19,17,7577568,C,A&fts=all	C238F	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Missense_Mutation_p.C238F|TP53_uc002gih.2_Missense_Mutation_p.C238F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C106F|TP53_uc010cng.1_Missense_Mutation_p.C106F|TP53_uc002gii.1_Missense_Mutation_p.C106F|TP53_uc010cnh.1_Missense_Mutation_p.C238F|TP53_uc010cni.1_Missense_Mutation_p.C238F|TP53_uc002gij.2_Missense_Mutation_p.C238F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C145F|TP53_uc002gio.2_Missense_Mutation_p.C106F	0,1,1,1,1,1,1	1		probably_damaging(1)	p.C238F	NM_001126112	NP_001119584		deleterious(0)	0,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		7	907	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	238		C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	SNV	TP53,missense_variant,p.Cys238Phe,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Cys238Phe,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Cys238Phe,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Cys238Phe,ENST00000445888,;TP53,missense_variant,p.Cys238Phe,ENST00000359597,;TP53,missense_variant,p.Cys238Phe,ENST00000413465,;TP53,missense_variant,p.Cys106Phe,ENST00000509690,;TP53,missense_variant,p.Cys145Phe,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,downstream_gene_variant,,ENST00000505014,;	uc002gim.2	c.713G>T	903/2579	1	1		111	c.713G>T	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(712-714)TGT>TTT	55	55		p.C238Y(47)|p.C238F(34)|p.C238S(18)|p.C238R(14)|p.0?(7)|p.C238*(4)|p.C238W(2)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.C238fs*9(1)|p.M237_N239delMCN(1)|p.C238fs*21(1)|p.C238del(1)|p.C238G(1)|p.C238C(1)|p.M237fs*1(1)|p.C145F(1)|p.H233fs*6(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.M237_C238insX(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7577568	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.572	ENSG00000141510	16131	g.chr17:7577568C>A	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.C238S(LN18-Tumor)|p.C238Y(MC116-Tumor)|p.C238S(MOLM16-Tumor)|p.C238S(SNU626-Tumor)|p.C238fs(SW1417-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.C238S(LN18-Tumor)|p.C238Y(MC116-Tumor)|p.C238S(MOLM16-Tumor)|p.C238S(SNU626-Tumor)|p.C238fs(SW1417-Tumor)	690	118.634948	KEEP	19	29	0.604166667	42	25	19	29	0.604166667	119.174407	42	25	0.417582	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	A			TP53_uc002gig.1_Missense_Mutation_p.C238F|TP53_uc002gih.2_Missense_Mutation_p.C238F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C106F|TP53_uc010cng.1_Missense_Mutation_p.C106F|TP53_uc002gii.1_Missense_Mutation_p.C106F|TP53_uc010cnh.1_Missense_Mutation_p.C238F|TP53_uc010cni.1_Missense_Mutation_p.C238F|TP53_uc002gij.2_Missense_Mutation_p.C238F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C145F|TP53_uc002gio.2_Missense_Mutation_p.C106F	235	GBM-32-2491-TP	p.C238F	C	GGAACTGTTACACATGTAGTT	NM_001126112	NP_001119584	7577568	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	907	-	A	A		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	238		C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.		
TP53	0	broad.mit.edu	GRCh37	17	7577520	7577520	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-32-2634-01	TCGA-32-2634-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.761T>G	p.Ile254Ser	p.I254S	ENST00000269305	NM_001126112.2	254	aTc/aGc	0			1			C	I/S	uc002gim.2	protein_coding	YES	CCDS11118.1		111	761/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.0?(7)|p.I254F(7)|p.I254S(5)|p.I254fs*10(5)|p.I254V(4)|p.I254T(3)|p.L252_I254delLTI(3)|p.I254N(3)|p.I254D(3)|p.T253_I255del(2)|p.I254del(2)|p.I254I(1)|p.?(1)|p.I254fs*7(1)|p.I254fs*91(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(760-762)ATC>AGC		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-Jul									TP53_g.13398T>G,COSM45035,COSM1230106,COSM1230107,COSM3403259,COSM2744574	11-Jul	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7577520A>C	11998			MODERATE		2.685	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=I254S	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=I254S	getma.org/?cm=var&var=hg19,17,7577520,A,C&fts=all	I254S	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Missense_Mutation_p.I254S|TP53_uc002gih.2_Missense_Mutation_p.I254S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.I122S|TP53_uc010cng.1_Missense_Mutation_p.I122S|TP53_uc002gii.1_Missense_Mutation_p.I122S|TP53_uc010cnh.1_Missense_Mutation_p.I254S|TP53_uc010cni.1_Missense_Mutation_p.I254S|TP53_uc002gij.2_Missense_Mutation_p.I254S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.I161S|TP53_uc002gio.2_Missense_Mutation_p.I122S	0,1,1,1,1,1	1		probably_damaging(1)	p.I254S	NM_001126112	NP_001119584		deleterious(0)	0,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		7	955	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	254		I -> L (in a sporadic cancer; somatic mutation).|I -> D (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|I -> F (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).|I -> M (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Ile254Ser,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Ile254Ser,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Ile254Ser,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Ile254Ser,ENST00000445888,;TP53,missense_variant,p.Ile254Ser,ENST00000359597,;TP53,missense_variant,p.Ile254Ser,ENST00000413465,;TP53,missense_variant,p.Ile122Ser,ENST00000509690,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,downstream_gene_variant,,ENST00000505014,;	uc002gim.2	c.761T>G	951/2579	3	3		111	c.761T>G	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(760-762)ATC>AGC	64	64		p.0?(7)|p.I254F(7)|p.I254S(5)|p.I254fs*10(5)|p.I254V(4)|p.I254T(3)|p.L252_I254delLTI(3)|p.I254N(3)|p.I254D(3)|p.T253_I255del(2)|p.I254del(2)|p.I254I(1)|p.?(1)|p.I254fs*7(1)|p.I254fs*91(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7577520	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.587	ENSG00000141510	16131	g.chr17:7577520A>C	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)		690	Pancreas(47;798 1329 9957 10801)		690	167.707708	KEEP	25	29	-1	8	5	25	29	-1	172.517987	8	5	0.803571	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	C			TP53_uc002gig.1_Missense_Mutation_p.I254S|TP53_uc002gih.2_Missense_Mutation_p.I254S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.I122S|TP53_uc010cng.1_Missense_Mutation_p.I122S|TP53_uc002gii.1_Missense_Mutation_p.I122S|TP53_uc010cnh.1_Missense_Mutation_p.I254S|TP53_uc010cni.1_Missense_Mutation_p.I254S|TP53_uc002gij.2_Missense_Mutation_p.I254S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.I161S|TP53_uc002gio.2_Missense_Mutation_p.I122S	241	GBM-32-2634-TP	p.I254S	A	CAGTGTGATGATGGTGAGGAT	NM_001126112	NP_001119584	7577520	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	955	-	C	C		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	254		I -> L (in a sporadic cancer; somatic mutation).|I -> D (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|I -> F (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).|I -> M (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	0	broad.mit.edu	GRCh37	17	7578406	7578406	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-32-4208-01	TCGA-32-4208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.524G>A	p.Arg175His	p.R175H	ENST00000269305	NM_001126112.2	175	cGc/cAc	0			1			T	R/H	uc002gim.2	protein_coding	YES	CCDS11118.1	R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	111	524/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	pathogenic		p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(523-525)CGC>CAC		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-May									rs28934578,TP53_g.12512G>A,COSM10648,COSM99914,COSM99022,COSM99023,COSM3355994,COSM1640851,COSM99024	11-May	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7578406C>T	11998			MODERATE		3.345	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=R175H	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=R175H	getma.org/?cm=var&var=hg19,17,7578406,C,T&fts=all	R175H	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	1,0,1,1,1,1,1,1,1	1	25,105,660,212,642,000,000,000,000,000,000	benign(0.308)	p.R175H	NM_001126112	NP_001119584		tolerated(0.11)	1,0,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		5	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	175		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Arg175His,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Arg175His,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Arg175His,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Arg175His,ENST00000445888,;TP53,missense_variant,p.Arg175His,ENST00000359597,;TP53,missense_variant,p.Arg175His,ENST00000413465,;TP53,missense_variant,p.Arg43His,ENST00000509690,;TP53,missense_variant,p.Arg82His,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,non_coding_transcript_exon_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	uc002gim.2	c.524G>A	714/2579	2	2	R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	111	c.524G>A	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(523-525)CGC>CAC	45	45		p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7578406	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.652	ENSG00000141510	16131	g.chr17:7578406C>T	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.R175L(LS123-Tumor)|p.R175L(VMRCLCD-Tumor)|p.R175L(DETROIT562-Tumor)|p.R175L(KMS26-Tumor)|p.R175L(KLE-Tumor)|p.R175L(SNU245-Tumor)|p.R175L(SKBR3-Tumor)|p.R175L(RKN-Tumor)|p.R174fs(THP1-Tumor)|p.R175L(HCC1395-Tumor)|p.R175L(VMCUB1-Tumor)|p.R175L(RT11284-Tumor)|p.R175L(AU565-Tumor)|p.R175L(SKUT1-Tumor)|p.R175L(HS571.T-Tumor)|p.R175L(HUCCT1-Tumor)|p.R175L(TYKNU-Tumor)|p.R175L(LMSU-Tumor)|p.R175L(CAL33-Tumor)|p.R175L(SNU1197-Tumor)|p.R175L(NCIH196-Tumor)|p.R175H(HCC44-Tumor)|p.R175L(OPM2-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.R175L(LS123-Tumor)|p.R175L(VMRCLCD-Tumor)|p.R175L(DETROIT562-Tumor)|p.R175L(KMS26-Tumor)|p.R175L(KLE-Tumor)|p.R175L(SNU245-Tumor)|p.R175L(SKBR3-Tumor)|p.R175L(RKN-Tumor)|p.R174fs(THP1-Tumor)|p.R175L(HCC1395-Tumor)|p.R175L(VMCUB1-Tumor)|p.R175L(RT11284-Tumor)|p.R175L(AU565-Tumor)|p.R175L(SKUT1-Tumor)|p.R175L(HS571.T-Tumor)|p.R175L(HUCCT1-Tumor)|p.R175L(TYKNU-Tumor)|p.R175L(LMSU-Tumor)|p.R175L(CAL33-Tumor)|p.R175L(SNU1197-Tumor)|p.R175L(NCIH196-Tumor)|p.R175H(HCC44-Tumor)|p.R175L(OPM2-Tumor)	690	168.782115	KEEP	29	32	-1	2	4	29	32	-1	178.374664	2	4	0.9	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	T			TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	243	GBM-32-4208-TP	p.R175H	C	GTGGGGGCAGCGCCTCACAAC	NM_001126112	NP_001119584	7578406	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	718	-	T	T		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	175		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	0	broad.mit.edu	GRCh37	17	7577544	7577544	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-32-4210-01	TCGA-32-4210-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.737T>G	p.Met246Arg	p.M246R	ENST00000269305	NM_001126112.2	246	aTg/aGg	0			1			C	M/R	uc002gim.2	protein_coding	YES	CCDS11118.1		111	737/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	pathogenic		p.M246V(28)|p.M246I(24)|p.M246R(10)|p.M246K(8)|p.0?(7)|p.M246T(6)|p.M246L(2)|p.M246fs*1(2)|p.M246_P250delMNRRP(2)|p.G244fs*17(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(736-738)ATG>AGG		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,PROSITE_patterns:PS00348,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-Jul									rs587780074,TP53_g.13374T>G,COSM11376,COSM1579895,COSM1579896,COSM3403261,COSM2744604,COSM1579897	11-Jul	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7577544A>C	11998			MODERATE		2.92	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=M246R	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=M246R	getma.org/?cm=var&var=hg19,17,7577544,A,C&fts=all	M246R	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Missense_Mutation_p.M246R|TP53_uc002gih.2_Missense_Mutation_p.M246R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.M114R|TP53_uc010cng.1_Missense_Mutation_p.M114R|TP53_uc002gii.1_Missense_Mutation_p.M114R|TP53_uc010cnh.1_Missense_Mutation_p.M246R|TP53_uc010cni.1_Missense_Mutation_p.M246R|TP53_uc002gij.2_Missense_Mutation_p.M246R|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.M153R|TP53_uc002gio.2_Missense_Mutation_p.M114R	1,0,1,1,1,1,1,1	1		probably_damaging(1)	p.M246R	NM_001126112	NP_001119584		deleterious(0)	0,0,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		7	931	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	246		M -> R (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> I (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Met246Arg,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Met246Arg,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Met246Arg,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Met246Arg,ENST00000445888,;TP53,missense_variant,p.Met246Arg,ENST00000359597,;TP53,missense_variant,p.Met246Arg,ENST00000413465,;TP53,missense_variant,p.Met114Arg,ENST00000509690,;TP53,missense_variant,p.Met153Arg,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,downstream_gene_variant,,ENST00000505014,;	uc002gim.2	c.737T>G	927/2579	4	4		111	c.737T>G	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(736-738)ATG>AGG	47	47		p.M246V(28)|p.M246I(24)|p.M246R(10)|p.M246K(8)|p.0?(7)|p.M246T(6)|p.M246L(2)|p.M246fs*1(2)|p.M246_P250delMNRRP(2)|p.G244fs*17(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7577544	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.572	ENSG00000141510	16131	g.chr17:7577544A>C	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.M246R(SKNFI-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.M246R(SKNFI-Tumor)	690	217.363642	KEEP	26	39	-1	10	6	26	39	-1	223.856747	10	6	0.820896	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	C			TP53_uc002gig.1_Missense_Mutation_p.M246R|TP53_uc002gih.2_Missense_Mutation_p.M246R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.M114R|TP53_uc010cng.1_Missense_Mutation_p.M114R|TP53_uc002gii.1_Missense_Mutation_p.M114R|TP53_uc010cnh.1_Missense_Mutation_p.M246R|TP53_uc010cni.1_Missense_Mutation_p.M246R|TP53_uc002gij.2_Missense_Mutation_p.M246R|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.M153R|TP53_uc002gio.2_Missense_Mutation_p.M114R	245	GBM-32-4210-TP	p.M246R	A	CCTCCGGTTCATGCCGCCCAT	NM_001126112	NP_001119584	7577544	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	931	-	C	C		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	246		M -> R (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> I (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).			
TP53	0	broad.mit.edu	GRCh37	17	7577609	7577609	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G			TCGA-41-2575-01	TCGA-41-2575-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.673-1G>C		p.X225_splice	ENST00000269305	NM_001126112.2			0			1			G		uc002gim.2	protein_coding	YES	CCDS11118.1		111	673/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.?(12)|p.0?(7)|p.V225fs*24(1)|p.E224_V225insXX(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.e7-1		Other_conserved_DNA_damage_response_genes		tumor protein p53 isoform a				ENSP00000269305											TP53_g.13309G>C,COSM45675,COSM562645,COSM562646,COSM3403264,COSM1649398,COSM562647		.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7577609C>G	11998			HIGH	10-Jun							--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Splice_Site_p.V225_splice|TP53_uc002gih.2_Splice_Site_p.V225_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_p.V93_splice|TP53_uc010cng.1_Splice_Site_p.V93_splice|TP53_uc002gii.1_Splice_Site_p.V93_splice|TP53_uc010cnh.1_Splice_Site_p.V225_splice|TP53_uc010cni.1_Splice_Site_p.V225_splice|TP53_uc002gij.2_Splice_Site_p.V225_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron	0,1,1,1,1,1,1	1			p.V225_splice	NM_001126112	NP_001119584			0,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		7	867	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67						SNV	TP53,splice_acceptor_variant,,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,splice_acceptor_variant,,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,splice_acceptor_variant,,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,splice_acceptor_variant,,ENST00000445888,;TP53,splice_acceptor_variant,,ENST00000359597,;TP53,splice_acceptor_variant,,ENST00000413465,;TP53,splice_acceptor_variant,,ENST00000509690,;TP53,splice_acceptor_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,splice_acceptor_variant,,ENST00000574684,;TP53,splice_acceptor_variant,,ENST00000510385,;TP53,splice_acceptor_variant,,ENST00000504290,;TP53,splice_acceptor_variant,,ENST00000504937,;TP53,downstream_gene_variant,,ENST00000505014,;	uc002gim.2	c.673_splice	-/2579	5	4		111	c.673_splice	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.e7-1	24	24		p.?(12)|p.0?(7)|p.V225fs*24(1)|p.E224_V225insXX(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7577609	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.488	ENSG00000141510	16131	g.chr17:7577609C>G	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	(FADU-Tumor)	690	Pancreas(47;798 1329 9957 10801)	(FADU-Tumor)	690	164.988076	KEEP	25	22	-1	16	17	25	22	-1	165.390491	16	17	0.576923	1	0	0	0	0	0	0	0	1	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	G			TP53_uc002gig.1_Splice_Site_p.V225_splice|TP53_uc002gih.2_Splice_Site_p.V225_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_p.V93_splice|TP53_uc010cng.1_Splice_Site_p.V93_splice|TP53_uc002gii.1_Splice_Site_p.V93_splice|TP53_uc010cnh.1_Splice_Site_p.V225_splice|TP53_uc010cni.1_Splice_Site_p.V225_splice|TP53_uc002gij.2_Splice_Site_p.V225_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron	253	GBM-41-2575-TP	p.V225_splice	C	CAGAGCCAACCTAGGAGATAA	NM_001126112	NP_001119584	7577609	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	867	-	G	G		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Splice_Site							
TP53	0	broad.mit.edu	GRCh37	17	7578555	7578555	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T			TCGA-41-5651-01	TCGA-41-5651-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.376-1G>A		p.X126_splice	ENST00000269305	NM_001126112.2			0			1			T		uc002gim.2	protein_coding	YES	CCDS11118.1		111	376/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.?(31)|p.0?(7)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.e5-1		Other_conserved_DNA_damage_response_genes		tumor protein p53 isoform a				ENSP00000269305											TP53_g.12363G>A,COSM21572,COSM6900,COSM218537,COSM218536,COSM3378369,COSM2156353,COSM218538		.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7578555C>T	11998			HIGH	10-Apr							--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Splice_Site_p.Y126_splice|TP53_uc002gih.2_Splice_Site_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Splice_Site_p.Y126_splice|TP53_uc010cni.1_Splice_Site_p.Y126_splice|TP53_uc002gij.2_Splice_Site_p.Y126_splice|TP53_uc010cnj.1_Splice_Site|TP53_uc002gin.2_Splice_Site_p.Y33_splice|TP53_uc002gio.2_Splice_Site|TP53_uc010vug.1_Splice_Site_p.Y87_splice	0,1,1,1,1,1,1,1	1			p.Y126_splice	NM_001126112	NP_001119584			0,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		5	570	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67						SNV	TP53,splice_acceptor_variant,,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,splice_acceptor_variant,,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,splice_acceptor_variant,,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,splice_acceptor_variant,,ENST00000445888,;TP53,splice_acceptor_variant,,ENST00000359597,;TP53,splice_acceptor_variant,,ENST00000413465,;TP53,splice_acceptor_variant,,ENST00000509690,;TP53,splice_acceptor_variant,,ENST00000508793,;TP53,splice_acceptor_variant,,ENST00000503591,;TP53,splice_acceptor_variant,,ENST00000514944,;TP53,intron_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,splice_acceptor_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;	uc002gim.2	c.376_splice	-/2579	5	2		111	c.376_splice	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.e5-1	36	36		p.?(31)|p.0?(7)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7578555	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.552	ENSG00000141510	16131	g.chr17:7578555C>T	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	(F36P-Tumor)|(BICR56-Tumor)|(OVCAR8-Tumor)|(BECKER-Tumor)|(CORL279-Tumor)|(SNU201-Tumor)	690	Pancreas(47;798 1329 9957 10801)	(F36P-Tumor)|(BICR56-Tumor)|(OVCAR8-Tumor)|(BECKER-Tumor)|(CORL279-Tumor)|(SNU201-Tumor)	690	45.507666	KEEP	7	7	-1	1	0	7	7	-1	47.634487	1	0	0.928571	1	0	0	0	0	0	0	0	1	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	T			TP53_uc002gig.1_Splice_Site_p.Y126_splice|TP53_uc002gih.2_Splice_Site_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Splice_Site_p.Y126_splice|TP53_uc010cni.1_Splice_Site_p.Y126_splice|TP53_uc002gij.2_Splice_Site_p.Y126_splice|TP53_uc010cnj.1_Splice_Site|TP53_uc002gin.2_Splice_Site_p.Y33_splice|TP53_uc002gio.2_Splice_Site|TP53_uc010vug.1_Splice_Site_p.Y87_splice	258	GBM-41-5651-TP	p.Y126_splice	C	CAGGGGAGTACTGTAGGAAGA	NM_001126112	NP_001119584	7578555	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	570	-	T	T		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Splice_Site							
TP53	0	broad.mit.edu	GRCh37	17	7578211	7578211	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6573-01	TCGA-74-6573-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.638G>A	p.Arg213Gln	p.R213Q	ENST00000269305	NM_001126112.2	213	cGa/cAa	0			1			T	R/Q	uc002gim.2	protein_coding	YES	CCDS11118.1		111	638/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	not_provided,pathogenic		p.R213*(182)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(637-639)CGA>CAA		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-Jun									rs587778720,TP53_g.12707G>A,COSM10735,COSM131466,COSM131467,COSM131469,COSM3403265,COSM1726594,COSM131468	11-Jun	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7578211C>T	11998			MODERATE		3.315	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=R213Q	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=R213Q	getma.org/?cm=var&var=hg19,17,7578211,C,T&fts=all	R213Q	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Missense_Mutation_p.R213Q|TP53_uc002gih.2_Missense_Mutation_p.R213Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R81Q|TP53_uc010cng.1_Missense_Mutation_p.R81Q|TP53_uc002gii.1_Missense_Mutation_p.R81Q|TP53_uc010cnh.1_Missense_Mutation_p.R213Q|TP53_uc010cni.1_Missense_Mutation_p.R213Q|TP53_uc002gij.2_Missense_Mutation_p.R213Q|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.R120Q|TP53_uc002gio.2_Missense_Mutation_p.R81Q|TP53_uc010vug.1_Missense_Mutation_p.R174Q	1,0,1,1,1,1,1,1,1	1		probably_damaging(1)	p.R213Q	NM_001126112	NP_001119584		deleterious(0)	0,0,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		6	832	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	213		R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Arg213Gln,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Arg213Gln,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Arg213Gln,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Arg213Gln,ENST00000445888,;TP53,missense_variant,p.Arg213Gln,ENST00000359597,;TP53,missense_variant,p.Arg213Gln,ENST00000413465,;TP53,missense_variant,p.Arg81Gln,ENST00000509690,;TP53,missense_variant,p.Arg120Gln,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,intron_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	uc002gim.2	c.638G>A	828/2579	2	2		111	c.638G>A	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(637-639)CGA>CAA	20	20		p.R213*(182)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7578211	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.532	ENSG00000141510	16131	g.chr17:7578211C>T	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.R213L(HT55-Tumor)|p.R213Q(AN3CA-Tumor)|p.R213Q(RAJI-Tumor)|p.R213Q(U138MG-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.R213L(HT55-Tumor)|p.R213Q(AN3CA-Tumor)|p.R213Q(RAJI-Tumor)|p.R213Q(U138MG-Tumor)	690	136.375655	KEEP	24	23	-1	3	8	24	23	-1	140.972093	3	8	0.807692	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	T			TP53_uc002gig.1_Missense_Mutation_p.R213Q|TP53_uc002gih.2_Missense_Mutation_p.R213Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R81Q|TP53_uc010cng.1_Missense_Mutation_p.R81Q|TP53_uc002gii.1_Missense_Mutation_p.R81Q|TP53_uc010cnh.1_Missense_Mutation_p.R213Q|TP53_uc010cni.1_Missense_Mutation_p.R213Q|TP53_uc002gij.2_Missense_Mutation_p.R213Q|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.R120Q|TP53_uc002gio.2_Missense_Mutation_p.R81Q|TP53_uc010vug.1_Missense_Mutation_p.R174Q	260	GBM-74-6573-TP	p.R213Q	C	CACACTATGTCGAAAAGTGTT	NM_001126112	NP_001119584	7578211	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	832	-	T	T		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	213		R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	0	broad.mit.edu	GRCh37	17	7577535	7577535	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-4925-01	TCGA-76-4925-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.746G>C	p.Arg249Thr	p.R249T	ENST00000269305	NM_001126112.2	249	aGg/aCg	0			1			G	R/T	uc002gim.2	protein_coding	YES	CCDS11118.1		111	746/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.R249S(303)|p.R249M(25)|p.R249G(24)|p.R249W(23)|p.R249T(16)|p.R249K(14)|p.0?(7)|p.R249R(6)|p.R249fs*96(6)|p.M246_P250delMNRRP(2)|p.R249fs*14(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R249_P250>SS(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*19(1)|p.R249_T256delRPILTIIT(1)|p.R249fs*15(1)|p.R249_I251delRPI(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(745-747)AGG>ACG		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,PROSITE_patterns:PS00348,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-Jul									TP53_g.13383G>C,COSM43665,COSM375642,COSM375643,COSM3403260,COSM1728798	11-Jul	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7577535C>G	11998			MODERATE		2.755	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=R249T	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=R249T	getma.org/?cm=var&var=hg19,17,7577535,C,G&fts=all	R249T	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Missense_Mutation_p.R249T|TP53_uc002gih.2_Missense_Mutation_p.R249T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R117T|TP53_uc010cng.1_Missense_Mutation_p.R117T|TP53_uc002gii.1_Missense_Mutation_p.R117T|TP53_uc010cnh.1_Missense_Mutation_p.R249T|TP53_uc010cni.1_Missense_Mutation_p.R249T|TP53_uc002gij.2_Missense_Mutation_p.R249T|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R156T|TP53_uc002gio.2_Missense_Mutation_p.R117T	0,1,1,1,1,1	1		probably_damaging(0.994)	p.R249T	NM_001126112	NP_001119584		deleterious(0)	0,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		7	940	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	249		R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> I (in a sporadic cancer; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Arg249Thr,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Arg249Thr,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Arg249Thr,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Arg249Thr,ENST00000445888,;TP53,missense_variant,p.Arg249Thr,ENST00000359597,;TP53,missense_variant,p.Arg249Thr,ENST00000413465,;TP53,missense_variant,p.Arg117Thr,ENST00000509690,;TP53,incomplete_terminal_codon_variant,p.=,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,downstream_gene_variant,,ENST00000505014,;	uc002gim.2	c.746G>C	936/2579	3	3		111	c.746G>C	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(745-747)AGG>ACG	64	64		p.R249S(303)|p.R249M(25)|p.R249G(24)|p.R249W(23)|p.R249T(16)|p.R249K(14)|p.0?(7)|p.R249R(6)|p.R249fs*96(6)|p.M246_P250delMNRRP(2)|p.R249fs*14(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R249_P250>SS(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*19(1)|p.R249_T256delRPILTIIT(1)|p.R249fs*15(1)|p.R249_I251delRPI(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7577535	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.567	ENSG00000141510	16131	g.chr17:7577535C>G	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)		690	Pancreas(47;798 1329 9957 10801)		690	97.183708	KEEP	13	22	-1	7	11	13	22	-1	98.166475	7	11	0.659091	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	G			TP53_uc002gig.1_Missense_Mutation_p.R249T|TP53_uc002gih.2_Missense_Mutation_p.R249T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R117T|TP53_uc010cng.1_Missense_Mutation_p.R117T|TP53_uc002gii.1_Missense_Mutation_p.R117T|TP53_uc010cnh.1_Missense_Mutation_p.R249T|TP53_uc010cni.1_Missense_Mutation_p.R249T|TP53_uc002gij.2_Missense_Mutation_p.R249T|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R156T|TP53_uc002gio.2_Missense_Mutation_p.R117T	265	GBM-76-4925-TP	p.R249T	C	GAGGATGGGCCTCCGGTTCAT	NM_001126112	NP_001119584	7577535	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	940	-	G	G		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	249		R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> I (in a sporadic cancer; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	0	broad.mit.edu	GRCh37	17	7574003	7574003	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-76-4929-01	TCGA-76-4929-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.1024C>T	p.Arg342Ter	p.R342*	ENST00000269305	NM_001126112.2	342	Cga/Tga	0			1			A	R/*	uc002gim.2	protein_coding	YES	CCDS11118.1		111	1024/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	pathogenic		p.R342*(49)|p.0?(7)|p.R342fs*3(5)|p.R342P(3)|p.R342Q(2)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(1024-1026)CGA>TGA		Other_conserved_DNA_damage_response_genes	Gene3D:1olgA00,Pfam_domain:PF07710,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF47719	tumor protein p53 isoform a				ENSP00000269305		11-Oct									rs730882029,TP53_g.16915C>T,COSM11073,COSM99721	11-Oct	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7574003G>A	11998			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,17,7574003,G,A&fts=all	R342*	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.R210*|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.R342*	1,0,1,1	1			p.R342*	NM_001126112	NP_001119584			0,0,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		10	1218	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	342		R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> L (in a sporadic cancer; somatic mutation).	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Nuclear export signal.|Interaction with HIPK2.		SNV	TP53,stop_gained,p.Arg342Ter,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,stop_gained,p.Arg342Ter,ENST00000445888,;TP53,3_prime_UTR_variant,,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,3_prime_UTR_variant,,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,intron_variant,,ENST00000359597,;TP53,intron_variant,,ENST00000413465,;TP53,intron_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000509690,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,downstream_gene_variant,,ENST00000505014,;	uc002gim.2	c.1024C>T	1214/2579	5	2		111	c.1024C>T	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(1024-1026)CGA>TGA	21	21		p.R342*(49)|p.0?(7)|p.R342fs*3(5)|p.R342P(3)|p.R342Q(2)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7574003	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.498	ENSG00000141510	16131	g.chr17:7574003G>A	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.R342*(KNS42-Tumor)|p.R342*(OVSAHO-Tumor)|p.R342*(TEN-Tumor)|p.R342*(UACC893-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.R342*(KNS42-Tumor)|p.R342*(OVSAHO-Tumor)|p.R342*(TEN-Tumor)|p.R342*(UACC893-Tumor)	690	98.979718	KEEP	17	17	-1	17	11	17	17	-1	99.044205	17	11	0.537037	1	0	0	0	0	0	1	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	A			TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.R210*|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.R342*	269	GBM-76-4929-TP	p.R342*	G	TTCAGCTCTCGGAACATCTCG	NM_001126112	NP_001119584	7574003	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1218	-	A	A		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Nonsense_Mutation	342		R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> L (in a sporadic cancer; somatic mutation).	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Nuclear export signal.|Interaction with HIPK2.			
TP53	0	broad.mit.edu	GRCh37	17	7578476	7578476	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4929-01	TCGA-76-4929-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.454C>T	p.Pro152Ser	p.P152S	ENST00000269305	NM_001126112.2	152	Ccg/Tcg	0			1			A	P/S	uc002gim.2	protein_coding	YES	CCDS11118.1		111	454/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.P152L(57)|p.P152S(21)|p.P152fs*18(17)|p.P152T(7)|p.0?(7)|p.P152fs*29(5)|p.P152P(5)|p.P152Q(4)|p.P152fs*14(4)|p.P152fs*28(3)|p.P152R(3)|p.T150fs*16(3)|p.P152A(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.P152_P153insXXX(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(454-456)CCG>TCG		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-May	8.24E-06					1.50E-05			rs767328513,TP53_g.12442C>T,COSM43582,COSM3403278,COSM3403281,COSM3403283,COSM3403280,COSM3403279,COSM3403282	11-May	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7578476G>A	11998			MODERATE		3.24	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=P152S	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=P152S	getma.org/?cm=var&var=hg19,17,7578476,G,A&fts=all	P152S	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Missense_Mutation_p.P152S|TP53_uc002gih.2_Missense_Mutation_p.P152S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P20S|TP53_uc010cng.1_Missense_Mutation_p.P20S|TP53_uc002gii.1_Missense_Mutation_p.P20S|TP53_uc010cnh.1_Missense_Mutation_p.P152S|TP53_uc010cni.1_Missense_Mutation_p.P152S|TP53_uc002gij.2_Missense_Mutation_p.P152S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.P59S|TP53_uc002gio.2_Missense_Mutation_p.P20S|TP53_uc010vug.1_Missense_Mutation_p.P113S	0,0,1,1,1,1,1,1,1	1		probably_damaging(0.997)	p.P152S	NM_001126112	NP_001119584		deleterious(0)	0,0,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		5	648	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	152		P -> R (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Pro152Ser,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Pro152Ser,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Pro152Ser,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Pro152Ser,ENST00000445888,;TP53,missense_variant,p.Pro152Ser,ENST00000359597,;TP53,missense_variant,p.Pro152Ser,ENST00000413465,;TP53,missense_variant,p.Pro20Ser,ENST00000509690,;TP53,missense_variant,p.Pro152Ser,ENST00000508793,;TP53,missense_variant,p.Pro59Ser,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	uc002gim.2	c.454C>T	644/2579	1	1		111	c.454C>T	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(454-456)CCG>TCG	59	59		p.P152L(57)|p.P152S(21)|p.P152fs*18(17)|p.P152T(7)|p.0?(7)|p.P152fs*29(5)|p.P152P(5)|p.P152Q(4)|p.P152fs*14(4)|p.P152fs*28(3)|p.P152R(3)|p.T150fs*16(3)|p.P152A(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.P152_P153insXXX(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7578476	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.607	ENSG00000141510	16131	g.chr17:7578476G>A	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.P152fs(RH41-Tumor)|p.P152S(UMUC1-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.P152fs(RH41-Tumor)|p.P152S(UMUC1-Tumor)	690	116.875168	KEEP	22	20	-1	25	29	22	20	-1	117.294987	25	29	0.425287	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	A			TP53_uc002gig.1_Missense_Mutation_p.P152S|TP53_uc002gih.2_Missense_Mutation_p.P152S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P20S|TP53_uc010cng.1_Missense_Mutation_p.P20S|TP53_uc002gii.1_Missense_Mutation_p.P20S|TP53_uc010cnh.1_Missense_Mutation_p.P152S|TP53_uc010cni.1_Missense_Mutation_p.P152S|TP53_uc002gij.2_Missense_Mutation_p.P152S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.P59S|TP53_uc002gio.2_Missense_Mutation_p.P20S|TP53_uc010vug.1_Missense_Mutation_p.P113S	269	GBM-76-4929-TP	p.P152S	G	GTGCCGGGCGGGGGTGTGGAA	NM_001126112	NP_001119584	7578476	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	648	-	A	A		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	152		P -> R (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	0	broad.mit.edu	GRCh37	17	7578466	7578466	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-6193-01	TCGA-76-6193-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.464C>A	p.Thr155Asn	p.T155N	ENST00000269305	NM_001126112.2	155	aCc/aAc	0			1			T	T/N	uc002gim.2	protein_coding	YES	CCDS11118.1		111	464/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.T155N(19)|p.T155P(14)|p.T155I(10)|p.0?(7)|p.T155A(7)|p.T155T(5)|p.P152fs*14(3)|p.G154fs*14(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.T155S(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.T155fs*26(1)|p.T155fs*25(1)|p.R156_A161del(1)|p.D148_T155delDSTPPPGT(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.T155fs*15(1)|p.R156fs*25(1)|p.T155_R156delTR(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(463-465)ACC>AAC		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-May									TP53_g.12452C>A,COSM11218,COSM213311,COSM213310,COSM213312,COSM3403277,COSM2152706,COSM213313	11-May	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7578466G>T	11998			MODERATE		2.33	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=T155N	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=T155N	getma.org/?cm=var&var=hg19,17,7578466,G,T&fts=all	T155N	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Missense_Mutation_p.T155N|TP53_uc002gih.2_Missense_Mutation_p.T155N|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.T23N|TP53_uc010cng.1_Missense_Mutation_p.T23N|TP53_uc002gii.1_Missense_Mutation_p.T23N|TP53_uc010cnh.1_Missense_Mutation_p.T155N|TP53_uc010cni.1_Missense_Mutation_p.T155N|TP53_uc002gij.2_Missense_Mutation_p.T155N|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.T62N|TP53_uc002gio.2_Missense_Mutation_p.T23N|TP53_uc010vug.1_Missense_Mutation_p.T116N	0,1,1,1,1,1,1,1	1		possibly_damaging(0.731)	p.T155N	NM_001126112	NP_001119584		deleterious(0.01)	0,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		5	658	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	155		T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Thr155Asn,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Thr155Asn,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Thr155Asn,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Thr155Asn,ENST00000445888,;TP53,missense_variant,p.Thr155Asn,ENST00000359597,;TP53,missense_variant,p.Thr155Asn,ENST00000413465,;TP53,missense_variant,p.Thr23Asn,ENST00000509690,;TP53,missense_variant,p.Thr155Asn,ENST00000508793,;TP53,missense_variant,p.Thr62Asn,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	uc002gim.2	c.464C>A	654/2579	2	2		111	c.464C>A	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(463-465)ACC>AAC	43	43		p.T155N(19)|p.T155P(14)|p.T155I(10)|p.0?(7)|p.T155A(7)|p.T155T(5)|p.P152fs*14(3)|p.G154fs*14(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.T155S(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.T155fs*26(1)|p.T155fs*25(1)|p.R156_A161del(1)|p.D148_T155delDSTPPPGT(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.T155fs*15(1)|p.R156fs*25(1)|p.T155_R156delTR(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7578466	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.612	ENSG00000141510	16131	g.chr17:7578466G>T	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.P152fs(RH41-Tumor)|p.T155N(NCIH524-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.P152fs(RH41-Tumor)|p.T155N(NCIH524-Tumor)	690	29.948114	KEEP	13	4	0.764705882	23	31	13	4	0.764705882	34.004092	23	31	0.224138	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	T			TP53_uc002gig.1_Missense_Mutation_p.T155N|TP53_uc002gih.2_Missense_Mutation_p.T155N|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.T23N|TP53_uc010cng.1_Missense_Mutation_p.T23N|TP53_uc002gii.1_Missense_Mutation_p.T23N|TP53_uc010cnh.1_Missense_Mutation_p.T155N|TP53_uc010cni.1_Missense_Mutation_p.T155N|TP53_uc002gij.2_Missense_Mutation_p.T155N|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.T62N|TP53_uc002gio.2_Missense_Mutation_p.T23N|TP53_uc010vug.1_Missense_Mutation_p.T116N	276	GBM-76-6193-TP	p.T155N	G	GCGGACGCGGGTGCCGGGCGG	NM_001126112	NP_001119584	7578466	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	658	-	T	T		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	155		T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	0	broad.mit.edu	GRCh37	17	7577551	7577551	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01	TCGA-76-6193-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.730G>A	p.Gly244Ser	p.G244S	ENST00000269305	NM_001126112.2	244	Ggc/Agc	0			1			T	G/S	uc002gim.2	protein_coding	YES	CCDS11118.1		111	730/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types			p.G244C(36)|p.G244S(35)|p.G244D(32)|p.G244V(14)|p.G244G(13)|p.G244A(9)|p.0?(7)|p.G244fs*3(5)|p.G244R(3)|p.M243_G244>IC(1)|p.G244E(1)|p.G244fs*19(1)|p.G151C(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.C238_M246delCNSSCMGGM(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(730-732)GGC>AGC		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,PROSITE_patterns:PS00348,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-Jul									TP53_g.13367G>A,COSM10941,COSM984898,COSM984900,COSM3355992,COSM1716873,COSM984901	11-Jul	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7577551C>T	11998			MODERATE		2.25	medium	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=G244S	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=G244S	getma.org/?cm=var&var=hg19,17,7577551,C,T&fts=all	G244S	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Missense_Mutation_p.G244S|TP53_uc002gih.2_Missense_Mutation_p.G244S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G112S|TP53_uc010cng.1_Missense_Mutation_p.G112S|TP53_uc002gii.1_Missense_Mutation_p.G112S|TP53_uc010cnh.1_Missense_Mutation_p.G244S|TP53_uc010cni.1_Missense_Mutation_p.G244S|TP53_uc002gij.2_Missense_Mutation_p.G244S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G151S|TP53_uc002gio.2_Missense_Mutation_p.G112S	0,1,1,1,1,1,1	1		probably_damaging(1)	p.G244S	NM_001126112	NP_001119584		deleterious(0)	0,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		7	924	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	244		G -> A (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Gly244Ser,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Gly244Ser,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Gly244Ser,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Gly244Ser,ENST00000445888,;TP53,missense_variant,p.Gly244Ser,ENST00000359597,;TP53,missense_variant,p.Gly244Ser,ENST00000413465,;TP53,missense_variant,p.Gly112Ser,ENST00000509690,;TP53,missense_variant,p.Gly151Ser,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,downstream_gene_variant,,ENST00000505014,;	uc002gim.2	c.730G>A	920/2579	2	2		111	c.730G>A	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(730-732)GGC>AGC	29	29		p.G244C(36)|p.G244S(35)|p.G244D(32)|p.G244V(14)|p.G244G(13)|p.G244A(9)|p.0?(7)|p.G244fs*3(5)|p.G244R(3)|p.M243_G244>IC(1)|p.G244E(1)|p.G244fs*19(1)|p.G151C(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.C238_M246delCNSSCMGGM(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7577551	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.582	ENSG00000141510	16131	g.chr17:7577551C>T	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.G244C(NCIH1836-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.G244C(NCIH1836-Tumor)	690	29.427903	KEEP	9	4	-1	25	17	9	4	-1	32.088605	25	17	0.244444	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	T			TP53_uc002gig.1_Missense_Mutation_p.G244S|TP53_uc002gih.2_Missense_Mutation_p.G244S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G112S|TP53_uc010cng.1_Missense_Mutation_p.G112S|TP53_uc002gii.1_Missense_Mutation_p.G112S|TP53_uc010cnh.1_Missense_Mutation_p.G244S|TP53_uc010cni.1_Missense_Mutation_p.G244S|TP53_uc002gij.2_Missense_Mutation_p.G244S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G151S|TP53_uc002gio.2_Missense_Mutation_p.G112S	276	GBM-76-6193-TP	p.G244S	C	TTCATGCCGCCCATGCAGGAA	NM_001126112	NP_001119584	7577551	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	924	-	T	T		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	244		G -> A (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).			
TP53	0	broad.mit.edu	GRCh37	17	7578464	7578464	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6193-01	TCGA-76-6193-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269305.4:c.466C>T	p.Arg156Cys	p.R156C	ENST00000269305	NM_001126112.2	156	Cgc/Tgc	0			1			A	R/C	uc002gim.2	protein_coding	YES	CCDS11118.1		111	466/1182	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	uncertain_significance		p.R156P(24)|p.R156H(10)|p.R156fs*14(8)|p.0?(7)|p.R156S(3)|p.R156R(3)|p.R156fs*25(3)|p.P152fs*14(3)|p.R156G(3)|p.R156L(3)|p.G154fs*14(2)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.R156C(2)|p.T155_R156delTR(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156del(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.G154_R156delGTR(1)|p.R156fs*20(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	c.(466-468)CGC>TGC		Other_conserved_DNA_damage_response_genes	Gene3D:2.60.40.720,Pfam_domain:PF00870,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417	tumor protein p53 isoform a				ENSP00000269305		11-May									rs563378859,TP53_g.12454C>T,COSM46124,COSM3403271,COSM3403274,COSM3403276,COSM3403273,COSM3403272,COSM3403275	11-May	.	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	ENST00000269305	Transcript	1		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	ENSG00000141510	g.chr17:7578464G>A	11998			MODERATE		1.345	low	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=R156C	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=R156C	getma.org/?cm=var&var=hg19,17,7578464,G,A&fts=all	R156C	--	--	1				HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																														TP53_uc002gig.1_Missense_Mutation_p.R156C|TP53_uc002gih.2_Missense_Mutation_p.R156C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R24C|TP53_uc010cng.1_Missense_Mutation_p.R24C|TP53_uc002gii.1_Missense_Mutation_p.R24C|TP53_uc010cnh.1_Missense_Mutation_p.R156C|TP53_uc010cni.1_Missense_Mutation_p.R156C|TP53_uc002gij.2_Missense_Mutation_p.R156C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R63C|TP53_uc002gio.2_Missense_Mutation_p.R24C|TP53_uc010vug.1_Missense_Mutation_p.R117C	1,0,1,1,1,1,1,1,1	1		benign(0.402)	p.R156C	NM_001126112	NP_001119584		tolerated(0.19)	0,0,1,1,1,1,1,1,1	P53_HUMAN	TP53	HGNC	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN		5	660	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	UPI000002ED67	156		R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		SNV	TP53,missense_variant,p.Arg156Cys,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Arg156Cys,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Arg156Cys,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Arg156Cys,ENST00000445888,;TP53,missense_variant,p.Arg156Cys,ENST00000359597,;TP53,missense_variant,p.Arg156Cys,ENST00000413465,;TP53,missense_variant,p.Arg24Cys,ENST00000509690,;TP53,missense_variant,p.Arg156Cys,ENST00000508793,;TP53,missense_variant,p.Arg63Cys,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	uc002gim.2	c.466C>T	656/2579	1	1		111	c.466C>T	Mis|N|F			breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	17	SNP	c.(466-468)CGC>TGC	63	63		p.R156P(24)|p.R156H(10)|p.R156fs*14(8)|p.0?(7)|p.R156S(3)|p.R156R(3)|p.R156fs*25(3)|p.P152fs*14(3)|p.R156G(3)|p.R156L(3)|p.G154fs*14(2)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.R156C(2)|p.T155_R156delTR(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156del(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.G154_R156delGTR(1)|p.R156fs*20(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	Broad	tumor protein p53 isoform a	Other_conserved_DNA_damage_response_genes		7578464	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	0.612	ENSG00000141510	16131	g.chr17:7578464G>A	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	Pancreas(47;798 1329 9957 10801)	p.P152fs(RH41-Tumor)	690	Pancreas(47;798 1329 9957 10801)	p.P152fs(RH41-Tumor)	690	31.343538	KEEP	13	4	-1	24	31	13	4	-1	35.592425	24	31	0.220339	1	0	0	0	0	1	0	0	0	--	--	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	0	A			TP53_uc002gig.1_Missense_Mutation_p.R156C|TP53_uc002gih.2_Missense_Mutation_p.R156C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R24C|TP53_uc010cng.1_Missense_Mutation_p.R24C|TP53_uc002gii.1_Missense_Mutation_p.R24C|TP53_uc010cnh.1_Missense_Mutation_p.R156C|TP53_uc010cni.1_Missense_Mutation_p.R156C|TP53_uc002gij.2_Missense_Mutation_p.R156C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R63C|TP53_uc002gio.2_Missense_Mutation_p.R24C|TP53_uc010vug.1_Missense_Mutation_p.R117C	276	GBM-76-6193-TP	p.R156C	G	GCGCGGACGCGGGTGCCGGGC	NM_001126112	NP_001119584	7578464	P04637	P53_HUMAN	0		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	660	-	A	A		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Missense_Mutation	156		R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).			
TP53	7157		GRCh37	17	7577568	7577568	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000269305.4:c.713G>T	p.Cys238Phe	p.C238F	ENST00000269305	NM_001126112.2	238	tGt/tTt	0																																																																																																																																																																																																																																												
TP53	7157		GRCh37	17	7578457	7578457	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000269305.4:c.473G>A	p.Arg158His	p.R158H	ENST00000269305	NM_001126112.2	158	cGc/cAc	0																																																																																																																																																																																																																																												
TP53	7157		GRCh37	17	7572986	7572986	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000269305.4:c.1123C>A	p.Gln375Lys	p.Q375K	ENST00000269305	NM_001126112.2	375	Cag/Aag	0																																																																																																																																																																																																																																												
TP53	7157		GRCh37	17	7577580	7577580	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000269305.4:c.701A>G	p.Tyr234Cys	p.Y234C	ENST00000269305	NM_001126112.2	234	tAc/tGc	0																																																																																																																																																																																																																																												
TP53	7157		GRCh37	17	7578518	7578518	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000269305.4:c.412G>A	p.Ala138Thr	p.A138T	ENST00000269305	NM_001126112.2	138	Gcc/Acc	0																																																																																																																																																																																																																																												
TP53	7157		GRCh37	17	7577538	7577538	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000269305.4:c.743G>T	p.Arg248Leu	p.R248L	ENST00000269305	NM_001126112.2	248	cGg/cTg	0																																																																																																																																																																																																																																												
TP53	7157		GRCh37	17	7577539	7577539	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000269305.4:c.742C>T	p.Arg248Trp	p.R248W	ENST00000269305	NM_001126112.2	248	Cgg/Tgg	0																																																																																																																																																																																																																																												
TP53BP1	7158	broad.mit.edu	GRCh37	15	43773221	43773221	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G			TCGA-06-0185-01	TCGA-06-0185-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382044.4:c.372-1G>C		p.X124_splice	ENST00000382044	NM_001141980.1	124		0			1			G		uc001zrs.2	protein_coding		CCDS10096.1			357/5919									ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7	c.e5-1		Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes		tumor protein p53 binding protein 1 isoform 3				ENSP00000263801											COSM3401744		.		ENST00000263801	Transcript			double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	ENSG00000067369	g.chr15:43773221C>G	11999			HIGH	27-Apr							--	--	1																																		TP53BP1_uc010udp.1_Splice_Site_p.S119_splice|TP53BP1_uc001zrq.3_Splice_Site_p.S124_splice|TP53BP1_uc001zrr.3_Splice_Site_p.S124_splice|TP53BP1_uc010udq.1_Splice_Site_p.S124_splice	1				p.S119_splice	NM_005657	NP_005648			1	TP53B_HUMAN	TP53BP1	HGNC	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	B3KVT9_HUMAN		5	505	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	UPI0000131031						SNV	TP53BP1,splice_acceptor_variant,,ENST00000263801,NM_005657.2;TP53BP1,splice_acceptor_variant,,ENST00000382044,NM_001141980.1,NM_001141979.1;TP53BP1,splice_acceptor_variant,,ENST00000450115,;TP53BP1,splice_acceptor_variant,,ENST00000382039,;TP53BP1,splice_acceptor_variant,,ENST00000413546,;TP53BP1,splice_acceptor_variant,,ENST00000572085,;	uc001zrs.2	c.357_splice	-/6346	5	4			c.357_splice						15	SNP	c.e5-1	20	20			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7	Broad	tumor protein p53 binding protein 1 isoform 3	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes		43773221		0.333	ENSG00000067369	16133	g.chr15:43773221C>G	double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			421			421	67.082376	KEEP	14	18	-1	75	58	14	18	-1	81.563981	75	58	0.173611	1	0	0	0	0	0	0	0	1	--	--		0	G			TP53BP1_uc010udp.1_Splice_Site_p.S119_splice|TP53BP1_uc001zrq.3_Splice_Site_p.S124_splice|TP53BP1_uc001zrr.3_Splice_Site_p.S124_splice|TP53BP1_uc010udq.1_Splice_Site_p.S124_splice	40	GBM-06-0185-TP	p.S119_splice	C	TCCCAGAACACTACACAGCAG	NM_005657	NP_005648	43773221	Q12888	TP53B_HUMAN	0		GBM - Glioblastoma multiforme(94;1.59e-06)	5	505	-	G	G		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	Splice_Site							
TP53BP1	7158	broad.mit.edu	GRCh37	15	43748820	43748820	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0939-01	TCGA-06-0939-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382044.4:c.1986G>A	p.Glu662=	p.E662=	ENST00000382044	NM_001141980.1	662	gaG/gaA	0			1			T	E	uc001zrs.2	protein_coding		CCDS10096.1			1971/5919									ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7	c.(1969-1971)GAG>GAA		Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	hmmpanther:PTHR15321,Low_complexity_(Seg):seg	tumor protein p53 binding protein 1 isoform 3				ENSP00000263801		28-Dec									COSM2152386	28-Dec	.		ENST00000263801	Transcript			double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	ENSG00000067369	g.chr15:43748820C>T	11999			LOW								--	--	1																																		TP53BP1_uc010udp.1_Silent_p.E657E|TP53BP1_uc001zrq.3_Silent_p.E662E|TP53BP1_uc001zrr.3_Silent_p.E662E|TP53BP1_uc010udq.1_Silent_p.E662E	1				p.E657E	NM_005657	NP_005648			1	TP53B_HUMAN	TP53BP1	HGNC	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	B3KVT9_HUMAN		12	2119	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	UPI0000131031	657					SNV	TP53BP1,synonymous_variant,p.=,ENST00000263801,NM_005657.2;TP53BP1,synonymous_variant,p.=,ENST00000382044,NM_001141980.1,NM_001141979.1;TP53BP1,synonymous_variant,p.=,ENST00000450115,;TP53BP1,synonymous_variant,p.=,ENST00000382039,;TP53BP1,synonymous_variant,p.=,ENST00000413546,;TP53BP1,upstream_gene_variant,,ENST00000605155,;TP53BP1,upstream_gene_variant,,ENST00000414758,;TP53BP1,non_coding_transcript_exon_variant,,ENST00000572085,;TP53BP1,upstream_gene_variant,,ENST00000411772,;TP53BP1,upstream_gene_variant,,ENST00000480860,;	uc001zrs.2	c.1971G>A	2224/6346	1	1			c.1971G>A						15	SNP	c.(1969-1971)GAG>GAA	4	4			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7	Broad	tumor protein p53 binding protein 1 isoform 3	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes		43748820		0.483	ENSG00000067369	16133	g.chr15:43748820C>T	double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			421			421	221.19013	KEEP	36	54	-1	87	129	36	54	-1	231.526736	87	129	0.287938	1	0	0	0	0	0	0	1	0	--	--		0	T			TP53BP1_uc010udp.1_Silent_p.E657E|TP53BP1_uc001zrq.3_Silent_p.E662E|TP53BP1_uc001zrr.3_Silent_p.E662E|TP53BP1_uc010udq.1_Silent_p.E662E	78	GBM-06-0939-TP	p.E657E	C	CTGAAGACCCCTCCTCTGGAT	NM_005657	NP_005648	43748820	Q12888	TP53B_HUMAN	0		GBM - Glioblastoma multiforme(94;1.59e-06)	12	2119	-	T	T		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	Silent	657						
TP53I13	0	broad.mit.edu	GRCh37	17	27899699	27899699	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301057.7:c.1053C>T	p.Ser351=	p.S351=	ENST00000301057	NM_138349.2	351	agC/agT	0			1			T	S	uc002hee.2	protein_coding	YES	CCDS42289.1			1053/1182										0	c.(1051-1053)AGC>AGT				tumor protein p53 inducible protein 13				ENSP00000301057		7-Jun									COSM3402710	7-Jun	.		ENST00000301057	Transcript				cytoplasm|integral to membrane|plasma membrane		ENSG00000167543	g.chr17:27899699C>T	25102			LOW								--	--	1																																			1	1			p.S351S	NM_138349	NP_612358			1	P5I13_HUMAN	TP53I13	HGNC	Q8NBR0	P5I13_HUMAN		READ - Rectum adenocarcinoma(3;0.236)	K7ERH9_HUMAN,K7ELD4_HUMAN,K7EKX3_HUMAN,K7EJC6_HUMAN,J3KSX2_HUMAN		6	1091	+			UPI000003B08D	351			Cytoplasmic (Potential).		SNV	TP53I13,synonymous_variant,p.=,ENST00000301057,NM_138349.2;TP53I13,intron_variant,,ENST00000378818,;GIT1,downstream_gene_variant,,ENST00000225394,NM_014030.3;GIT1,downstream_gene_variant,,ENST00000394869,NM_001085454.1;GIT1,downstream_gene_variant,,ENST00000581348,;GIT1,downstream_gene_variant,,ENST00000579937,;TP53I13,downstream_gene_variant,,ENST00000578749,;TP53I13,downstream_gene_variant,,ENST00000581411,;TP53I13,downstream_gene_variant,,ENST00000580183,;TP53I13,downstream_gene_variant,,ENST00000582829,;TP53I13,downstream_gene_variant,,ENST00000583940,;GIT1,downstream_gene_variant,,ENST00000585148,;GIT1,downstream_gene_variant,,ENST00000578266,;RP11-68I3.2,intron_variant,,ENST00000581474,;RP11-68I3.4,downstream_gene_variant,,ENST00000579050,;TP53I13,downstream_gene_variant,,ENST00000578073,;TP53I13,non_coding_transcript_exon_variant,,ENST00000579674,;GIT1,downstream_gene_variant,,ENST00000473217,;GIT1,downstream_gene_variant,,ENST00000578670,;GIT1,downstream_gene_variant,,ENST00000491377,;TP53I13,downstream_gene_variant,,ENST00000577934,;GIT1,downstream_gene_variant,,ENST00000581925,;GIT1,downstream_gene_variant,,ENST00000586574,;TP53I13,downstream_gene_variant,,ENST00000580132,;	uc002hee.2	c.1053C>T	1168/1530	1	1			c.1053C>T						17	SNP	c.(1051-1053)AGC>AGT	6	6				0	Broad	tumor protein p53 inducible protein 13			27899699		0.701	ENSG00000167543	16136	g.chr17:27899699C>T		cytoplasm|integral to membrane|plasma membrane								6.546592	KEEP	0	3	-1	1	7	0	3	-1	7.000749	1	7	0.25	1	0	0	0	0	0	0	1	0	--	--		0	T				246	GBM-32-4211-TP	p.S351S	C	CAGCGGACAGCCAGGACACAG	NM_138349	NP_612358	27899699	Q8NBR0	P5I13_HUMAN	0		READ - Rectum adenocarcinoma(3;0.236)	6	1091	+	T	T			Silent	351			Cytoplasmic (Potential).			
TP53INP1	0	broad.mit.edu	GRCh37	8	95952365	95952365	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-6698-01	TCGA-06-6698-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342697.4:c.196T>C	p.Phe66Leu	p.F66L	ENST00000342697	NM_033285.3	66	Ttt/Ctt	0			1			G	F/L	uc003yhg.2	protein_coding	YES	CCDS6265.1			196/723										0	c.(196-198)TTT>CTT			Pfam_domain:PF14839,hmmpanther:PTHR31671,hmmpanther:PTHR31671:SF0	tumor protein p53 inducible nuclear protein 1				ENSP00000344215		4-Mar									COSM3413176,COSM3413177	4-Mar	.		ENST00000342697	Transcript			apoptosis	PML body		ENSG00000164938	g.chr8:95952365A>G	18022			MODERATE		1.265	low	getma.org/?cm=msa&ty=f&p=T53I1_HUMAN&rb=1&re=156&var=F66L	NA	getma.org/?cm=var&var=hg19,8,95952365,A,G&fts=all	F66L	--	--	1																																		C8orf38_uc003yhe.1_Intron|C8orf38_uc003yhf.2_Intron|TP53INP1_uc003yhh.2_Missense_Mutation_p.F66L	1,1	1		benign(0.261)	p.F66L	NM_033285	NP_150601		tolerated(0.31)	1,1	T53I1_HUMAN	TP53INP1	HGNC	Q96A56	T53I1_HUMAN					3	580	-	Breast(36;8.75e-07)		UPI00000725F8	66					SNV	TP53INP1,missense_variant,p.Phe66Leu,ENST00000342697,NM_033285.3;TP53INP1,missense_variant,p.Phe66Leu,ENST00000448464,NM_001135733.1;TP53INP1,missense_variant,p.Phe66Leu,ENST00000378776,;NDUFAF6,intron_variant,,ENST00000396113,;NDUFAF6,intron_variant,,ENST00000523378,;NDUFAF6,intron_variant,,ENST00000519136,;	uc003yhg.2	c.196T>C	604/5638	3	3			c.196T>C						8	SNP	c.(196-198)TTT>CTT	7	7				0	Broad	tumor protein p53 inducible nuclear protein 1			95952365		0.463	ENSG00000164938	16138	g.chr8:95952365A>G	apoptosis	PML body								-7.723735	KEEP	2	2	-1	36	38	2	2	-1	7.865363	36	38	0.054795	1	0	0	0	0	1	0	0	0	--	--		0	G			C8orf38_uc003yhe.1_Intron|C8orf38_uc003yhf.2_Intron|TP53INP1_uc003yhh.2_Missense_Mutation_p.F66L	112	GBM-06-6698-TP	p.F66L	A	AAACAGGAAAAGACTGAAGGG	NM_033285	NP_150601	95952365	Q96A56	T53I1_HUMAN	0			3	580	-	G	G	Breast(36;8.75e-07)		Missense_Mutation	66						
TP53RK	112858	broad.mit.edu	GRCh37	20	45315631	45315631	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-06-5412-01	TCGA-06-5412-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372114.3:c.523G>T	p.Glu175Ter	p.E175*	ENST00000372114	NM_033550.3	175	Gaa/Taa	0			1			A	E/*	uc002xsk.2	protein_coding	YES	CCDS13401.1			523/762										0	c.(523-525)GAA>TAA			Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF06293,TIGRFAM_domain:TIGR03724,Gene3D:1.10.510.10,hmmpanther:PTHR12209,PROSITE_profiles:PS50011	p53-related protein kinase				ENSP00000361186		2-Feb									COSM3405164	2-Feb	.		ENST00000372114	Transcript			lipopolysaccharide biosynthetic process	membrane|nucleus	ATP binding|p53 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000172315	g.chr20:45315631C>A	16197			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,20,45315631,C,A&fts=all	E175*	--	--	1																																		SLC13A3_uc002xsg.1_5'Flank|SLC13A3_uc010gho.1_5'Flank|TP53RK_uc002xsj.2_3'UTR	1	1			p.E175*	NM_033550	NP_291028			1	PRPK_HUMAN	TP53RK	HGNC	Q96S44	PRPK_HUMAN					2	746	-		Myeloproliferative disorder(115;0.0122)	UPI0000035B7A	175			Protein kinase.		SNV	TP53RK,stop_gained,p.Glu175Ter,ENST00000372114,NM_033550.3;TP53RK,3_prime_UTR_variant,,ENST00000372102,;RP1-28H20.3,upstream_gene_variant,,ENST00000606362,;	uc002xsk.2	c.523G>T	888/3515	5	1			c.523G>T						20	SNP	c.(523-525)GAA>TAA	59	59				0	Broad	p53-related protein kinase			45315631		0.498	ENSG00000172315	16140	g.chr20:45315631C>A	lipopolysaccharide biosynthetic process	membrane|nucleus	ATP binding|p53 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			20			20	21.176443	KEEP	8	11	0.578947368	58	66	8	11	0.578947368	38.901498	58	66	0.128788	1	0	0	0	0	0	1	0	0	--	--		0	A			SLC13A3_uc002xsg.1_5'Flank|SLC13A3_uc010gho.1_5'Flank|TP53RK_uc002xsj.2_3'UTR	95	GBM-06-5412-TP	p.E175*	C	TTCAGCTGTTCCAGGGGGGGT	NM_033550	NP_291028	45315631	Q96S44	PRPK_HUMAN	0			2	746	-	A	A		Myeloproliferative disorder(115;0.0122)	Nonsense_Mutation	175			Protein kinase.			
TP63	0	broad.mit.edu	GRCh37	3	189607256	189607256	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-19-2629-01	TCGA-19-2629-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264731.3:c.1635A>G	p.Thr545=	p.T545=	ENST00000264731	NM_003722.4	545	acA/acG	0			1			G	T	uc003fry.2	protein_coding	YES	CCDS3293.1			1635/2043									skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	c.(1633-1635)ACA>ACG			hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF8,Gene3D:1.10.150.50,Pfam_domain:PF07647,SMART_domains:SM00454,Superfamily_domains:SSF47769	tumor protein p63 isoform 1				ENSP00000264731		14-Dec									COSM3408518,COSM3408519	14-Dec	.	Hay-Wells_syndrome	ENST00000264731	Transcript	1		anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000073282	g.chr3:189607256A>G	15979			LOW								--	--	1				HNSCC(45;0.13)																														TP63_uc003frz.2_Silent_p.T545T|TP63_uc010hzc.1_Intron|TP63_uc003fsc.2_Silent_p.T451T|TP63_uc003fsd.2_Silent_p.T451T|TP63_uc010hzd.1_Silent_p.T366T	1,1	1			p.T545T	NM_003722	NP_003713			1,1	P63_HUMAN	TP63	HGNC	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)			12	1724	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		UPI0000073CF2	545			SAM.		SNV	TP63,synonymous_variant,p.=,ENST00000264731,NM_003722.4,NM_001114978.1;TP63,synonymous_variant,p.=,ENST00000354600,NM_001114981.1,NM_001114980.1;TP63,synonymous_variant,p.=,ENST00000382063,;TP63,synonymous_variant,p.=,ENST00000440651,;TP63,synonymous_variant,p.=,ENST00000456148,;TP63,synonymous_variant,p.=,ENST00000392460,;TP63,synonymous_variant,p.=,ENST00000449992,;TP63,synonymous_variant,p.=,ENST00000392463,;TP63,intron_variant,,ENST00000320472,;TP63,intron_variant,,ENST00000392461,;	uc003fry.2	c.1635A>G	1724/4909	3	3			c.1635A>G						3	SNP	c.(1633-1635)ACA>ACG	64	64			skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	Broad	tumor protein p63 isoform 1			189607256	Hay-Wells_syndrome	0.597	ENSG00000073282	16142	g.chr3:189607256A>G	anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			423			423	-22.683473	KEEP	2	2	-1	58	78	2	2	-1	6.475468	58	78	0.025641	1	0	0	0	0	0	0	1	0	--	--	HNSCC(45;0.13)	0	G			TP63_uc003frz.2_Silent_p.T545T|TP63_uc010hzc.1_Intron|TP63_uc003fsc.2_Silent_p.T451T|TP63_uc003fsd.2_Silent_p.T451T|TP63_uc010hzd.1_Silent_p.T366T	166	GBM-19-2629-TP	p.T545T	A	CGTATCCCACAGATTGCAGCA	NM_003722	NP_003713	189607256	Q9H3D4	P63_HUMAN	0	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	12	1724	+	G	G	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Silent	545			SAM.			
TP63	0	broad.mit.edu	GRCh37	3	189587160	189587160	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5960-01	TCGA-19-5960-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264731.3:c.1177C>T	p.Arg393Ter	p.R393*	ENST00000264731	NM_003722.4	393	Cga/Tga	0			1			T	R/*	uc003fry.2	protein_coding	YES	CCDS3293.1			1177/2043									skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	c.(1177-1179)CGA>TGA			hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF8,Gene3D:1olgA00,Pfam_domain:PF07710,Superfamily_domains:SSF47719	tumor protein p63 isoform 1				ENSP00000264731		14-Sep									COSM3408513,COSM3408514,COSM3408515	14-Sep	.	Hay-Wells_syndrome	ENST00000264731	Transcript	1		anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000073282	g.chr3:189587160C>T	15979			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,3,189587160,C,T&fts=all	R393*	--	--	1				HNSCC(45;0.13)																														TP63_uc003frx.2_Nonsense_Mutation_p.R393*|TP63_uc003frz.2_Nonsense_Mutation_p.R393*|TP63_uc010hzc.1_Nonsense_Mutation_p.R393*|TP63_uc003fsa.2_Nonsense_Mutation_p.R299*|TP63_uc003fsb.2_Nonsense_Mutation_p.R299*|TP63_uc003fsc.2_Nonsense_Mutation_p.R299*|TP63_uc003fsd.2_Nonsense_Mutation_p.R299*|TP63_uc010hzd.1_Nonsense_Mutation_p.R214*|TP63_uc003fse.1_Nonsense_Mutation_p.R270*	1,1,1	1			p.R393*	NM_003722	NP_003713			1,1,1	P63_HUMAN	TP63	HGNC	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)			9	1266	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		UPI0000073CF2	393					SNV	TP63,stop_gained,p.Arg393Ter,ENST00000264731,NM_003722.4,NM_001114978.1;TP63,stop_gained,p.Arg299Ter,ENST00000354600,NM_001114981.1,NM_001114980.1;TP63,stop_gained,p.Arg308Ter,ENST00000382063,;TP63,stop_gained,p.Arg393Ter,ENST00000418709,NM_001114979.1;TP63,stop_gained,p.Arg299Ter,ENST00000437221,NM_001114982.1;TP63,stop_gained,p.Arg393Ter,ENST00000320472,;TP63,stop_gained,p.Arg389Ter,ENST00000440651,;TP63,stop_gained,p.Arg295Ter,ENST00000456148,;TP63,stop_gained,p.Arg393Ter,ENST00000392460,;TP63,stop_gained,p.Arg214Ter,ENST00000449992,;TP63,stop_gained,p.Arg299Ter,ENST00000392463,;TP63,stop_gained,p.Arg299Ter,ENST00000392461,;TP63,non_coding_transcript_exon_variant,,ENST00000460036,;	uc003fry.2	c.1177C>T	1266/4909	5	1			c.1177C>T						3	SNP	c.(1177-1179)CGA>TGA	7	7			skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	Broad	tumor protein p63 isoform 1			189587160	Hay-Wells_syndrome	0.413	ENSG00000073282	16142	g.chr3:189587160C>T	anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			423			423	35.517155	KEEP	7	11	-1	4	10	7	11	-1	35.517155	4	10	0.5	1	0	0	0	0	0	1	0	0	--	--	HNSCC(45;0.13)	0	T			TP63_uc003frx.2_Nonsense_Mutation_p.R393*|TP63_uc003frz.2_Nonsense_Mutation_p.R393*|TP63_uc010hzc.1_Nonsense_Mutation_p.R393*|TP63_uc003fsa.2_Nonsense_Mutation_p.R299*|TP63_uc003fsb.2_Nonsense_Mutation_p.R299*|TP63_uc003fsc.2_Nonsense_Mutation_p.R299*|TP63_uc003fsd.2_Nonsense_Mutation_p.R299*|TP63_uc010hzd.1_Nonsense_Mutation_p.R214*|TP63_uc003fse.1_Nonsense_Mutation_p.R270*	178	GBM-19-5960-TP	p.R393*	C	CATCAAGAAACGAAGATCCCC	NM_003722	NP_003713	189587160	Q9H3D4	P63_HUMAN	0	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	9	1266	+	T	T	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Nonsense_Mutation	393						
TP63	0	broad.mit.edu	GRCh37	3	189604307	189604307	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264731.3:c.1474C>T	p.Pro492Ser	p.P492S	ENST00000264731	NM_003722.4	492	Cct/Tct	0			1			T	P/S	uc003fry.2	protein_coding	YES	CCDS3293.1			1474/2043									skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	c.(1474-1476)CCT>TCT			hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF8	tumor protein p63 isoform 1				ENSP00000264731		14-Nov									COSM3408516,COSM3408517	14-Nov	.	Hay-Wells_syndrome	ENST00000264731	Transcript	1		anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000073282	g.chr3:189604307C>T	15979			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=P63_HUMAN&rb=433&re=540&var=P492S	NA	getma.org/?cm=var&var=hg19,3,189604307,C,T&fts=all	P492S	--	--	1				HNSCC(45;0.13)																														TP63_uc003frz.2_Missense_Mutation_p.P492S|TP63_uc010hzc.1_Missense_Mutation_p.P492S|TP63_uc003fsc.2_Missense_Mutation_p.P398S|TP63_uc003fsd.2_Missense_Mutation_p.P398S|TP63_uc010hzd.1_Missense_Mutation_p.P313S	1,1	1		possibly_damaging(0.617)	p.P492S	NM_003722	NP_003713		deleterious(0.04)	1,1	P63_HUMAN	TP63	HGNC	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)			11	1563	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		UPI0000073CF2	492					SNV	TP63,missense_variant,p.Pro492Ser,ENST00000264731,NM_003722.4,NM_001114978.1;TP63,missense_variant,p.Pro398Ser,ENST00000354600,NM_001114981.1,NM_001114980.1;TP63,missense_variant,p.Pro407Ser,ENST00000382063,;TP63,missense_variant,p.Pro492Ser,ENST00000320472,;TP63,missense_variant,p.Pro488Ser,ENST00000440651,;TP63,missense_variant,p.Pro394Ser,ENST00000456148,;TP63,missense_variant,p.Pro492Ser,ENST00000392460,;TP63,missense_variant,p.Pro313Ser,ENST00000449992,;TP63,missense_variant,p.Pro398Ser,ENST00000392463,;TP63,missense_variant,p.Pro398Ser,ENST00000392461,;	uc003fry.2	c.1474C>T	1563/4909	1	1			c.1474C>T						3	SNP	c.(1474-1476)CCT>TCT	14	14			skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	Broad	tumor protein p63 isoform 1			189604307	Hay-Wells_syndrome	0.498	ENSG00000073282	16142	g.chr3:189604307C>T	anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			423			423	53.33039	KEEP	13	12	-1	55	55	13	12	-1	62.372298	55	55	0.208696	1	0	0	0	0	1	0	0	0	--	--	HNSCC(45;0.13)	0	T			TP63_uc003frz.2_Missense_Mutation_p.P492S|TP63_uc010hzc.1_Missense_Mutation_p.P492S|TP63_uc003fsc.2_Missense_Mutation_p.P398S|TP63_uc003fsd.2_Missense_Mutation_p.P398S|TP63_uc010hzd.1_Missense_Mutation_p.P313S	229	GBM-32-1977-TP	p.P492S	C	CGCCCTCACTCCTACAACCAT	NM_003722	NP_003713	189604307	Q9H3D4	P63_HUMAN	0	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	11	1563	+	T	T	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Missense_Mutation	492						
TP63	8626		GRCh37	3	189582022	189582022	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000264731.3:c.581A>C	p.Tyr194Ser	p.Y194S	ENST00000264731	NM_003722.4	194	tAt/tCt	0																																																																																																																																																																																																																																												
TPCN1	53373	broad.mit.edu	GRCh37	12	113724880	113724880	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01	TCGA-06-0195-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000550785.1:c.1831C>T	p.Arg611Cys	p.R611C	ENST00000550785	NM_001143819.1	611	Cgc/Tgc	0			1			T	R/C	uc001tuw.2	protein_coding		CCDS31908.1			1615/2451									skin(2)|ovary(1)	3	c.(1615-1617)CGC>TGC			Low_complexity_(Seg):seg,hmmpanther:PTHR10037:SF201,hmmpanther:PTHR10037,Gene3D:1.20.120.350,Pfam_domain:PF00520,Superfamily_domains:SSF81324	two pore segment channel 1 isoform 2				ENSP00000335300		19/28	8.24E-06							6.07E-05	rs755945359,COSM3398376,COSM3398375	19/28	.		ENST00000335509	Transcript				endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	ENSG00000186815	g.chr12:113724880C>T	18182			MODERATE		3.57	high	getma.org/?cm=msa&ty=f&p=TPC1_HUMAN&rb=477&re=686&var=R539C	getma.org/pdb.php?prot=TPC1_HUMAN&from=477&to=686&var=R539C	getma.org/?cm=var&var=hg19,12,113724880,C,T&fts=all	R539C	--	--	1																																		TPCN1_uc001tux.2_Missense_Mutation_p.R611C|TPCN1_uc010syt.1_Missense_Mutation_p.R471C	0,1,1			probably_damaging(1)	p.R539C	NM_017901	NP_060371		deleterious(0)	0,1,1	TPC1_HUMAN	TPCN1	HGNC	Q9ULQ1	TPC1_HUMAN			F8W1L6_HUMAN,F8W1G4_HUMAN,F8VV93_HUMAN,F8VR74_HUMAN,B7Z3R2_HUMAN		19	1912	+			UPI0000041252	539			Helical; Name=S4 of repeat II; (Potential).		SNV	TPCN1,missense_variant,p.Arg611Cys,ENST00000550785,NM_001143819.1;TPCN1,missense_variant,p.Arg539Cys,ENST00000335509,NM_017901.4;TPCN1,missense_variant,p.Arg611Cys,ENST00000541517,;TPCN1,missense_variant,p.Arg471Cys,ENST00000392569,;TPCN1,downstream_gene_variant,,ENST00000546781,;TPCN1,missense_variant,p.Arg74Cys,ENST00000547955,;TPCN1,non_coding_transcript_exon_variant,,ENST00000552077,;TPCN1,non_coding_transcript_exon_variant,,ENST00000551127,;TPCN1,non_coding_transcript_exon_variant,,ENST00000428632,;TPCN1,non_coding_transcript_exon_variant,,ENST00000550543,;TPCN1,upstream_gene_variant,,ENST00000546907,;	uc001tuw.2	c.1615C>T	1929/5274	2	2			c.1615C>T						12	SNP	c.(1615-1617)CGC>TGC	26	26			skin(2)|ovary(1)	3	Broad	two pore segment channel 1 isoform 2			113724880		0.617	ENSG00000186815	16145	g.chr12:113724880C>T		endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity							-32.606516	KEEP	1	4	-1	86	82	1	4	-1	6.820264	86	82	0.025316	1	0	0	0	0	1	0	0	0	--	--		0	T			TPCN1_uc001tux.2_Missense_Mutation_p.R611C|TPCN1_uc010syt.1_Missense_Mutation_p.R471C	45	GBM-06-0195-TP	p.R539C	C	CGTGGTCCTGCGCCCCCTCCA	NM_017901	NP_060371	113724880	Q9ULQ1	TPC1_HUMAN	0			19	1912	+	T	T			Missense_Mutation	539			Helical; Name=S4 of repeat II; (Potential).			
TPCN1	0	broad.mit.edu	GRCh37	12	113730818	113730818	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-14-0813-01	TCGA-14-0813-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335509.6:c.2193G>C	p.Arg731=	p.R731=	ENST00000335509	NM_017901.4	731	cgG/cgC	0			1			C	R	uc001tuw.2	protein_coding		CCDS31908.1			2193/2451									skin(2)|ovary(1)	3	c.(2191-2193)CGG>CGC			hmmpanther:PTHR10037:SF201,hmmpanther:PTHR10037	two pore segment channel 1 isoform 2				ENSP00000335300		26/28									COSM2154751,COSM2154750	26/28	.		ENST00000335509	Transcript				endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	ENSG00000186815	g.chr12:113730818G>C	18182			LOW								--	--	1																																		TPCN1_uc001tux.2_Silent_p.R803R|TPCN1_uc010syu.1_5'Flank	1,1				p.R731R	NM_017901	NP_060371			1,1	TPC1_HUMAN	TPCN1	HGNC	Q9ULQ1	TPC1_HUMAN			F8W1L6_HUMAN,F8W1G4_HUMAN,F8VV93_HUMAN,F8VR74_HUMAN,B7Z3R2_HUMAN		26	2490	+			UPI0000041252	731			Cytoplasmic (Potential).		SNV	TPCN1,synonymous_variant,p.=,ENST00000550785,NM_001143819.1;TPCN1,synonymous_variant,p.=,ENST00000335509,NM_017901.4;TPCN1,synonymous_variant,p.=,ENST00000541517,;TPCN1,synonymous_variant,p.=,ENST00000392569,;TPCN1,upstream_gene_variant,,ENST00000546787,;TPCN1,non_coding_transcript_exon_variant,,ENST00000552077,;TPCN1,non_coding_transcript_exon_variant,,ENST00000551127,;TPCN1,downstream_gene_variant,,ENST00000428632,;TPCN1,downstream_gene_variant,,ENST00000547955,;TPCN1,downstream_gene_variant,,ENST00000546907,;	uc001tuw.2	c.2193G>C	2507/5274	4	4			c.2193G>C						12	SNP	c.(2191-2193)CGG>CGC	35	35			skin(2)|ovary(1)	3	Broad	two pore segment channel 1 isoform 2			113730818		0.617	ENSG00000186815	16145	g.chr12:113730818G>C		endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity							88.461008	KEEP	16	19	-1	36	36	16	19	-1	91.341708	36	36	0.32	1	0	0	0	0	0	0	1	0	--	--		0	C			TPCN1_uc001tux.2_Silent_p.R803R|TPCN1_uc010syu.1_5'Flank	138	GBM-14-0813-TP	p.R731R	G	GGGAGGCACGGGGGGCCTCCT	NM_017901	NP_060371	113730818	Q9ULQ1	TPC1_HUMAN	0			26	2490	+	C	C			Silent	731			Cytoplasmic (Potential).			
TPCN2	219931		GRCh37	11	68854047	68854047	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000294309.3:c.2060A>G	p.Asn687Ser	p.N687S	ENST00000294309	NM_139075.3	687	aAc/aGc	0																																																																																																																																																																																																																																												
TPD52	0	broad.mit.edu	GRCh37	8	80954870	80954870	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5960-01	TCGA-19-5960-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379097.3:c.540G>A	p.Lys180=	p.K180=	ENST00000379097	NM_001025252.1	180	aaG/aaA	0			1			T	K	uc003ybr.1	protein_coding	YES	CCDS34912.1			540/675									ovary(1)	1	c.(538-540)AAG>AAA			Pfam_domain:PF04201,hmmpanther:PTHR19307,hmmpanther:PTHR19307:SF12	tumor protein D52 isoform 1				ENSP00000368391		6-May									COSM3413128,COSM3413129	6-May	.		ENST00000379097	Transcript			anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity	ENSG00000076554	g.chr8:80954870C>T	12005			LOW								--	--	1																																		TPD52_uc010lzr.2_RNA|TPD52_uc010lzs.1_RNA|TPD52_uc003ybs.1_Silent_p.K163K|TPD52_uc003ybt.1_Silent_p.K140K|TPD52_uc003ybq.1_RNA|TPD52_uc003ybu.1_RNA	1,1	1			p.K180K	NM_001025252	NP_001020423			1,1	TPD52_HUMAN	TPD52	HGNC	P55327	TPD52_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)				5	862	-	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	UPI000000D76B	180					SNV	TPD52,synonymous_variant,p.=,ENST00000379096,NM_005079.2,NM_001287144.1;TPD52,synonymous_variant,p.=,ENST00000518937,NM_001025253.1;TPD52,synonymous_variant,p.=,ENST00000520527,;TPD52,synonymous_variant,p.=,ENST00000448733,;TPD52,synonymous_variant,p.=,ENST00000517427,;TPD52,synonymous_variant,p.=,ENST00000379097,NM_001025252.1;TPD52,synonymous_variant,p.=,ENST00000519303,;TPD52,synonymous_variant,p.=,ENST00000537855,;TPD52,non_coding_transcript_exon_variant,,ENST00000523395,;TPD52,non_coding_transcript_exon_variant,,ENST00000520877,;TPD52,3_prime_UTR_variant,,ENST00000517462,;TPD52,3_prime_UTR_variant,,ENST00000521354,;TPD52,3_prime_UTR_variant,,ENST00000521241,;TPD52,3_prime_UTR_variant,,ENST00000518517,;TPD52,non_coding_transcript_exon_variant,,ENST00000523193,;TPD52,non_coding_transcript_exon_variant,,ENST00000523319,;TPD52,non_coding_transcript_exon_variant,,ENST00000521618,;TPD52,non_coding_transcript_exon_variant,,ENST00000517445,;TPD52,non_coding_transcript_exon_variant,,ENST00000524194,;TPD52,downstream_gene_variant,,ENST00000523753,;	uc003ybr.1	c.540G>A	903/2563	2	2			c.540G>A						8	SNP	c.(538-540)AAG>AAA	41	41			ovary(1)	1	Broad	tumor protein D52 isoform 1			80954870		0.308	ENSG00000076554	16147	g.chr8:80954870C>T	anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity							71.560441	KEEP	15	12	-1	24	23	15	12	-1	72.591483	24	23	0.360656	1	0	0	0	0	0	0	1	0	--	--		0	T			TPD52_uc010lzr.2_RNA|TPD52_uc010lzs.1_RNA|TPD52_uc003ybs.1_Silent_p.K163K|TPD52_uc003ybt.1_Silent_p.K140K|TPD52_uc003ybq.1_RNA|TPD52_uc003ybu.1_RNA	178	GBM-19-5960-TP	p.K180K	C	AGTTTTCGACCTTTTCTTCAA	NM_001025252	NP_001020423	80954870	P55327	TPD52_HUMAN	0	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)		5	862	-	T	T	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	Silent	180						
TPD52L1	0	broad.mit.edu	GRCh37	6	125541243	125541243	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6285-01	TCGA-76-6285-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000534000.1:c.39G>A	p.Pro13=	p.P13=	ENST00000534000	NM_003287.2	13	ccG/ccA	0	A:0.0005		1			A	P	uc003pzu.1	protein_coding	YES	CCDS5130.1			39/615										0	c.(37-39)CCG>CCA			Pfam_domain:PF04201,hmmpanther:PTHR19307,hmmpanther:PTHR19307:SF8	tumor protein D52-like 1 isoform 1			A:0	ENSP00000434142		7-Feb	4.12E-05	9.61E-05	0.000261			1.50E-05			rs368146966,COSM3171620	7-Feb	.		ENST00000534000	Transcript			DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity	ENSG00000111907	g.chr6:125541243G>A	12006			LOW								--	--	1																																		TPD52L1_uc003pzv.1_Silent_p.P13P|TPD52L1_uc003pzw.1_Silent_p.P13P|TPD52L1_uc003pzx.1_5'UTR|TPD52L1_uc003pzy.1_5'UTR|TPD52L1_uc003pzz.1_5'UTR	0,1	1			p.P13P	NM_003287	NP_003278			0,1	TPD53_HUMAN	TPD52L1	HGNC	Q16890	TPD53_HUMAN	LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)	F6V707_HUMAN,E9PNQ9_HUMAN		2	258	+			UPI0000136B40	13					SNV	TPD52L1,synonymous_variant,p.=,ENST00000534000,NM_003287.2;TPD52L1,synonymous_variant,p.=,ENST00000368388,NM_001003397.1;TPD52L1,synonymous_variant,p.=,ENST00000304877,;TPD52L1,synonymous_variant,p.=,ENST00000368402,NM_001003396.1;TPD52L1,synonymous_variant,p.=,ENST00000527711,;TPD52L1,synonymous_variant,p.=,ENST00000528193,;TPD52L1,5_prime_UTR_variant,,ENST00000392482,;TPD52L1,5_prime_UTR_variant,,ENST00000532429,NM_001003395.1;TPD52L1,5_prime_UTR_variant,,ENST00000524679,;TPD52L1,5_prime_UTR_variant,,ENST00000534199,;TPD52L1,5_prime_UTR_variant,,ENST00000534368,;HDDC2,non_coding_transcript_exon_variant,,ENST00000608456,;TPD52L1,non_coding_transcript_exon_variant,,ENST00000532978,;TPD52L1,non_coding_transcript_exon_variant,,ENST00000392483,;HDDC2,downstream_gene_variant,,ENST00000609477,;	uc003pzu.1	c.39G>A	335/2356	2	2			c.39G>A						6	SNP	c.(37-39)CCG>CCA	35	35				0	Broad	tumor protein D52-like 1 isoform 1			125541243		0.348	ENSG00000111907	16148	g.chr6:125541243G>A	DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity							143.306193	KEEP	17	29	-1	2	6	17	29	-1	149.096433	2	6	0.854167	1	0	0	0	0	0	0	1	0	--	--		0	A			TPD52L1_uc003pzv.1_Silent_p.P13P|TPD52L1_uc003pzw.1_Silent_p.P13P|TPD52L1_uc003pzx.1_5'UTR|TPD52L1_uc003pzy.1_5'UTR|TPD52L1_uc003pzz.1_5'UTR	280	GBM-76-6285-TP	p.P13P	G	AGACTGAACCGTTGCAAGGAA	NM_003287	NP_003278	125541243	Q16890	TPD53_HUMAN	0	LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)	2	258	+	A	A			Silent	13						
TPH1	0	broad.mit.edu	GRCh37	11	18047154	18047154	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs145855109	byFrequency	TCGA-41-3392-01	TCGA-41-3392-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000250018.2:c.898G>A	p.Ala300Thr	p.A300T	ENST00000250018	NM_004179.2	300	Gct/Act	0	T:0	T:0	1	T:0		T	A/T	uc001mnp.2	protein_coding	YES	CCDS7829.1			898/1335										0	c.(898-900)GCT>ACT			PROSITE_profiles:PS51410,hmmpanther:PTHR11473,hmmpanther:PTHR11473:SF23,TIGRFAM_domain:TIGR01270,Pfam_domain:PF00351,Gene3D:1.10.800.10,PIRSF_domain:PIRSF000336,Superfamily_domains:SSF56534,Prints_domain:PR00372	tryptophan hydroxylase 1	L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	T:0	T:0.0007	ENSP00000250018	T:0	10-Jul	0.0007	9.62E-05	0.00026			0.000495		0.00291	rs145855109,COSM2154781,COSM3397592	10-Jul	common_variant		ENST00000250018	Transcript		T:0.0004	aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	ENSG00000129167	g.chr11:18047154C>T	12008			MODERATE		3.28	medium	getma.org/?cm=msa&ty=f&p=TPH1_HUMAN&rb=106&re=437&var=A300T	getma.org/pdb.php?prot=TPH1_HUMAN&from=106&to=437&var=A300T	getma.org/?cm=var&var=hg19,11,18047154,C,T&fts=all	A300T	--	--	1																																		TPH1_uc009yhe.2_RNA	0,1,1	1		benign(0.075)	p.A300T	NM_004179	NP_004170	T:0.002	deleterious(0.04)	0,1,1	TPH1_HUMAN	TPH1	HGNC	P17752	TPH1_HUMAN			B3VS10_HUMAN,B3VS05_HUMAN,B3VS00_HUMAN,B3VRZ5_HUMAN,B3VRZ0_HUMAN,B3VRY5_HUMAN,B3VRY0_HUMAN,B3VRX5_HUMAN,B3VRX0_HUMAN,B3VRW5_HUMAN		7	924	-			UPI000013CC9C	300					SNV	TPH1,missense_variant,p.Ala300Thr,ENST00000250018,NM_004179.2;TPH1,missense_variant,p.Ala300Thr,ENST00000341556,;TPH1,downstream_gene_variant,,ENST00000528338,;RP1-59M18.2,upstream_gene_variant,,ENST00000525523,;TPH1,upstream_gene_variant,,ENST00000525406,;TPH1,3_prime_UTR_variant,,ENST00000417164,;	uc001mnp.2	c.898G>A	1461/5325	2	2			c.898G>A						11	SNP	c.(898-900)GCT>ACT	24	24				0	Broad	tryptophan hydroxylase 1		L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	18047154		0.438	ENSG00000129167	16151	g.chr11:18047154C>T	aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			206			206	0.491391	KEEP	10	4	-1	87	71	10	4	-1	25.636707	87	71	0.083916	1	0	0	0	0	1	0	0	0	--	--		0	T			TPH1_uc009yhe.2_RNA	254	GBM-41-3392-TP	p.A300T	C	TCCTCTGAAGCGCCAAGAGAA	NM_004179	NP_004170	18047154	P17752	TPH1_HUMAN	0			7	924	-	T	T			Missense_Mutation	300						
TPH1	0	broad.mit.edu	GRCh37	11	18051095	18051095	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4926-01	TCGA-76-4926-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000250018.2:c.434G>A	p.Arg145Gln	p.R145Q	ENST00000250018	NM_004179.2	145	cGa/cAa	0			1			T	R/Q	uc001mnp.2	protein_coding	YES	CCDS7829.1			434/1335										0	c.(433-435)CGA>CAA			PROSITE_profiles:PS51410,hmmpanther:PTHR11473,hmmpanther:PTHR11473:SF23,TIGRFAM_domain:TIGR01270,Pfam_domain:PF00351,Gene3D:1.10.800.10,PIRSF_domain:PIRSF000336,Superfamily_domains:SSF56534,Prints_domain:PR00372	tryptophan hydroxylase 1	L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)			ENSP00000250018		10-Apr	4.12E-05					7.55E-05			rs754612963,COSM925556,COSM3397593	10-Apr	.		ENST00000250018	Transcript			aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	ENSG00000129167	g.chr11:18051095C>T	12008			MODERATE		4.05	high	getma.org/?cm=msa&ty=f&p=TPH1_HUMAN&rb=106&re=437&var=R145Q	getma.org/pdb.php?prot=TPH1_HUMAN&from=106&to=437&var=R145Q	getma.org/?cm=var&var=hg19,11,18051095,C,T&fts=all	R145Q	--	--	1																																		TPH1_uc009yhe.2_RNA	0,1,1	1		probably_damaging(1)	p.R145Q	NM_004179	NP_004170		deleterious(0)	0,1,1	TPH1_HUMAN	TPH1	HGNC	P17752	TPH1_HUMAN			B3VS10_HUMAN,B3VS05_HUMAN,B3VS00_HUMAN,B3VRZ5_HUMAN,B3VRZ0_HUMAN,B3VRY5_HUMAN,B3VRY0_HUMAN,B3VRX5_HUMAN,B3VRX0_HUMAN,B3VRW5_HUMAN		4	460	-			UPI000013CC9C	145					SNV	TPH1,missense_variant,p.Arg145Gln,ENST00000250018,NM_004179.2;TPH1,missense_variant,p.Arg145Gln,ENST00000341556,;TPH1,missense_variant,p.Arg155Gln,ENST00000528338,;TPH1,missense_variant,p.Arg145Gln,ENST00000417164,;	uc001mnp.2	c.434G>A	997/5325	2	2			c.434G>A						11	SNP	c.(433-435)CGA>CAA	48	48				0	Broad	tryptophan hydroxylase 1		L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	18051095		0.264	ENSG00000129167	16151	g.chr11:18051095C>T	aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity		p.R145Q(TCCPAN2-Tumor)	206		p.R145Q(TCCPAN2-Tumor)	206	116.363323	KEEP	33	38	-1	121	141	33	38	-1	137.576028	121	141	0.206767	1	0	0	0	0	1	0	0	0	--	--		0	T			TPH1_uc009yhe.2_RNA	266	GBM-76-4926-TP	p.R145Q	C	AAAATACTTTCGACGTTTACG	NM_004179	NP_004170	18051095	P17752	TPH1_HUMAN	0			4	460	-	T	T			Missense_Mutation	145						
TPM3	7170	broad.mit.edu	GRCh37	1	154148652	154148652	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01	TCGA-02-0003-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368530.2:c.316C>T	p.Arg106Cys	p.R106C	ENST00000368530	NM_152263.3	106	Cgc/Tgc	0			1			A	R/C	uc001fec.1	protein_coding	YES	CCDS41403.1			316/858	T		NTRK1|ALK		papillary thyroid|ALCL		TPM3/ALK(33)		haematopoietic_and_lymphoid_tissue(22)|soft_tissue(11)|skin(1)	34	c.(316-318)CGC>TGC			Gene3D:1.20.5.340,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00261,hmmpanther:PTHR19269,hmmpanther:PTHR19269:SF41,Superfamily_domains:SSF57997	tropomyosin 3 isoform 1				ENSP00000357516		10-Mar									COSM2148924,COSM2148923,COSM2148925	10-Mar	.		ENST00000368530	Transcript	1		cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding	ENSG00000143549	g.chr1:154148652G>A	12012			MODERATE		3.69	high	getma.org/?cm=msa&ty=f&p=TPM3_HUMAN&rb=48&re=284&var=R105C	getma.org/pdb.php?prot=TPM3_HUMAN&from=48&to=284&var=R105C	getma.org/?cm=var&var=hg19,1,154148652,G,A&fts=all	R105C	--	--	1																																		TPM3_uc010pei.1_Intron|TPM3_uc001fdy.1_Missense_Mutation_p.R69C|TPM3_uc001fdz.1_Missense_Mutation_p.R69C|TPM3_uc001fea.1_Missense_Mutation_p.R69C|TPM3_uc001feb.1_Missense_Mutation_p.R69C|TPM3_uc010pej.1_Intron|TPM3_uc009wor.2_Intron|TPM3_uc001fed.1_Missense_Mutation_p.R69C	1,1,1	1		probably_damaging(1)	p.R106C	NM_152263	NP_689476		deleterious(0)	1,1,1	TPM3_HUMAN	TPM3	HGNC	P06753	TPM3_HUMAN			Q5VU62_HUMAN,D6RGJ6_HUMAN		3	431	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		UPI000013D90D	105			By similarity.		SNV	TPM3,missense_variant,p.Arg69Cys,ENST00000368533,NM_153649.3,NM_001278188.1,NM_001278190.1,NM_001043352.1;TPM3,missense_variant,p.Arg69Cys,ENST00000330188,NM_001043353.1,NM_001043351.1;TPM3,missense_variant,p.Arg69Cys,ENST00000341485,;TPM3,missense_variant,p.Arg44Cys,ENST00000341372,;TPM3,missense_variant,p.Arg69Cys,ENST00000328159,NM_001278189.1;TPM3,missense_variant,p.Arg106Cys,ENST00000368530,NM_152263.3;TPM3,missense_variant,p.Arg106Cys,ENST00000271850,;TPM3,missense_variant,p.Arg69Cys,ENST00000368531,;TPM3,missense_variant,p.Arg69Cys,ENST00000323144,;TPM3,5_prime_UTR_variant,,ENST00000302206,NM_001278191.1;TPM3,non_coding_transcript_exon_variant,,ENST00000312970,;TPM3,non_coding_transcript_exon_variant,,ENST00000368527,;TPM3,intron_variant,,ENST00000469717,;TPM3,missense_variant,p.Arg69Cys,ENST00000509601,;TPM3,non_coding_transcript_exon_variant,,ENST00000473036,;TPM3,non_coding_transcript_exon_variant,,ENST00000505010,;TPM3,intron_variant,,ENST00000509409,;TPM3,upstream_gene_variant,,ENST00000368545,;	uc001fec.1	c.316C>T	509/1523	2	2			c.316C>T	T		NTRK1|ALK		papillary thyroid|ALCL	1	SNP	c.(316-318)CGC>TGC	21	21	TPM3/ALK(33)		haematopoietic_and_lymphoid_tissue(22)|soft_tissue(11)|skin(1)	34	Broad	tropomyosin 3 isoform 1			154148652		0.527	ENSG00000143549	16157	g.chr1:154148652G>A	cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding			241			241	332.157866	KEEP	61	66	-1	84	64	61	66	-1	332.314844	84	64	0.473077	1	0	0	0	0	1	0	0	0	--	--		0	A			TPM3_uc010pei.1_Intron|TPM3_uc001fdy.1_Missense_Mutation_p.R69C|TPM3_uc001fdz.1_Missense_Mutation_p.R69C|TPM3_uc001fea.1_Missense_Mutation_p.R69C|TPM3_uc001feb.1_Missense_Mutation_p.R69C|TPM3_uc010pej.1_Intron|TPM3_uc009wor.2_Intron|TPM3_uc001fed.1_Missense_Mutation_p.R69C	1	GBM-02-0003-TP	p.R106C	G	GTGGCCAGGCGCTCCTGAGCA	NM_152263	NP_689476	154148652	P06753	TPM3_HUMAN	0			3	431	-	A	A	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		Missense_Mutation	105			By similarity.			
TPO	7173	broad.mit.edu	GRCh37	2	1488428	1488428	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01	TCGA-02-2470-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345913.4:c.1399G>A	p.Val467Met	p.V467M	ENST00000345913	NM_000547.5	467	Gtg/Atg	0	A:0	A:0	1	A:0		A	V/M	uc002qww.2	protein_coding		CCDS1643.1			1399/2802									ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	c.(1399-1401)GTG>ATG			Gene3D:1.10.640.10,Pfam_domain:PF03098,PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF60,Superfamily_domains:SSF48113	thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	A:0	A:0.0001	ENSP00000329869	A:0	17-Sep	0.000115					0.000105		0.000424	rs373267637,COSM2149113,COSM3406920	17-Sep	common_variant		ENST00000329066	Transcript	1	A:0.0002	cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	ENSG00000115705	g.chr2:1488428G>A	12015			MODERATE		0.93	low	getma.org/?cm=msa&ty=f&p=PERT_HUMAN&rb=151&re=709&var=V467M	getma.org/pdb.php?prot=PERT_HUMAN&from=151&to=709&var=V467M	getma.org/?cm=var&var=hg19,2,1488428,G,A&fts=all	V467M	--	--	1																																		TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.V467M|TPO_uc002qwr.2_Missense_Mutation_p.V467M|TPO_uc002qwx.2_Missense_Mutation_p.V467M|TPO_uc010yio.1_Missense_Mutation_p.V294M|TPO_uc010yip.1_Missense_Mutation_p.V467M|TPO_uc002qwy.1_Translation_Start_Site|TPO_uc002qwz.2_RNA	0,1,1			possibly_damaging(0.523)	p.V467M	NM_000547	NP_000538	A:0.001	tolerated(0.29)	0,1,1	PERT_HUMAN	TPO	HGNC	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Q53QT2_HUMAN,C9J511_HUMAN		9	1490	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	UPI000013D480	467			Extracellular (Potential).		SNV	TPO,missense_variant,p.Val396Met,ENST00000422464,;TPO,missense_variant,p.Val467Met,ENST00000345913,NM_000547.5;TPO,missense_variant,p.Val467Met,ENST00000329066,NM_001206744.1;TPO,missense_variant,p.Val467Met,ENST00000337415,;TPO,missense_variant,p.Val467Met,ENST00000346956,NM_175721.3;TPO,missense_variant,p.Val467Met,ENST00000382201,NM_001206745.1,NM_175719.3;TPO,missense_variant,p.Val294Met,ENST00000349624,;TPO,missense_variant,p.Val294Met,ENST00000382198,NM_175722.3;TPO,upstream_gene_variant,,ENST00000446278,;TPO,upstream_gene_variant,,ENST00000469607,;TPO,non_coding_transcript_exon_variant,,ENST00000497517,;TPO,upstream_gene_variant,,ENST00000462973,;	uc002qww.2	c.1399G>A	1482/3138	2	2			c.1399G>A						2	SNP	c.(1399-1401)GTG>ATG	33	33			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	Broad	thyroid peroxidase isoform a		Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	1488428		0.587	ENSG00000115705	16160	g.chr2:1488428G>A	cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			723			723	47.990785	KEEP	12	8	-1	31	31	12	8	-1	52.308071	31	31	0.25	1	0	0	0	0	1	0	0	0	--	--		0	A			TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.V467M|TPO_uc002qwr.2_Missense_Mutation_p.V467M|TPO_uc002qwx.2_Missense_Mutation_p.V467M|TPO_uc010yio.1_Missense_Mutation_p.V294M|TPO_uc010yip.1_Missense_Mutation_p.V467M|TPO_uc002qwy.1_Translation_Start_Site|TPO_uc002qwz.2_RNA	5	GBM-02-2470-TP	p.V467M	G	CCAGCAGTACGTGGGTCCCTA	NM_000547	NP_000538	1488428	P07202	PERT_HUMAN	0		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	9	1490	+	A	A	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	Missense_Mutation	467			Extracellular (Potential).			
TPO	0	broad.mit.edu	GRCh37	2	1544411	1544411	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-1982-01	TCGA-32-1982-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329066.4:c.2664C>T	p.Gly888=	p.G888=	ENST00000329066	NM_001206744.1	888	ggC/ggT	0			1			T	G	uc002qww.2	protein_coding		CCDS1643.1			2664/2802									ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	c.(2662-2664)GGC>GGT				thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)			ENSP00000329869		16/17	2.47E-05					3.04E-05		6.06E-05	rs753589249,COSM165095	16/17	.		ENST00000329066	Transcript	1		cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	ENSG00000115705	g.chr2:1544411C>T	12015			LOW								--	--	1																																		TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Silent_p.G831G|TPO_uc002qwr.2_Silent_p.G888G|TPO_uc002qwx.2_Silent_p.G831G|TPO_uc010yio.1_Silent_p.G715G|TPO_uc010yip.1_Silent_p.G844G|TPO_uc002qwy.1_Silent_p.G184G|TPO_uc002qwz.2_Intron	0,1				p.G888G	NM_000547	NP_000538			0,1	PERT_HUMAN	TPO	HGNC	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Q53QT2_HUMAN,C9J511_HUMAN		16	2755	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	UPI000013D480	888			Cytoplasmic (Potential).		SNV	TPO,synonymous_variant,p.=,ENST00000422464,;TPO,synonymous_variant,p.=,ENST00000345913,NM_000547.5;TPO,synonymous_variant,p.=,ENST00000329066,NM_001206744.1;TPO,synonymous_variant,p.=,ENST00000346956,NM_175721.3;TPO,synonymous_variant,p.=,ENST00000382201,NM_001206745.1,NM_175719.3;TPO,synonymous_variant,p.=,ENST00000349624,;TPO,synonymous_variant,p.=,ENST00000382198,NM_175722.3;TPO,synonymous_variant,p.=,ENST00000469607,;TPO,synonymous_variant,p.=,ENST00000425083,;TPO,intron_variant,,ENST00000337415,;TPO,intron_variant,,ENST00000446278,;TPO,intron_variant,,ENST00000497517,;TPO,intron_variant,,ENST00000479902,;	uc002qww.2	c.2664C>T	2747/3138	2	2			c.2664C>T						2	SNP	c.(2662-2664)GGC>GGT	35	35			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	Broad	thyroid peroxidase isoform a		Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	1544411		0.642	ENSG00000115705	16160	g.chr2:1544411C>T	cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			723			723	36.181491	KEEP	7	11	-1	27	45	7	11	-1	42.655707	27	45	0.207317	1	0	0	0	0	0	0	1	0	--	--		0	T			TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Silent_p.G831G|TPO_uc002qwr.2_Silent_p.G888G|TPO_uc002qwx.2_Silent_p.G831G|TPO_uc010yio.1_Silent_p.G715G|TPO_uc010yip.1_Silent_p.G844G|TPO_uc002qwy.1_Silent_p.G184G|TPO_uc002qwz.2_Intron	232	GBM-32-1982-TP	p.G888G	C	CGGAGACAGGCGGAGGAACTC	NM_000547	NP_000538	1544411	P07202	PERT_HUMAN	0		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	16	2755	+	T	T	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	Silent	888			Cytoplasmic (Potential).			
TPO	0	broad.mit.edu	GRCh37	2	1480946	1480946	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2615-01	TCGA-32-2615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329066.4:c.908C>T	p.Ala303Val	p.A303V	ENST00000329066	NM_001206744.1	303	gCg/gTg	0			1			T	A/V	uc002qww.2	protein_coding		CCDS1643.1			908/2802									ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	c.(907-909)GCG>GTG			Pfam_domain:PF03098,PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF60,Superfamily_domains:SSF48113	thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)			ENSP00000329869		17-Aug									COSM3296000,COSM3748094	17-Aug	.		ENST00000329066	Transcript	1		cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	ENSG00000115705	g.chr2:1480946C>T	12015			MODERATE		0.955	low	getma.org/?cm=msa&ty=f&p=PERT_HUMAN&rb=151&re=709&var=A303V	getma.org/pdb.php?prot=PERT_HUMAN&from=151&to=709&var=A303V	getma.org/?cm=var&var=hg19,2,1480946,C,T&fts=all	A303V	--	--	1																																		TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.A303V|TPO_uc002qwr.2_Missense_Mutation_p.A303V|TPO_uc002qwx.2_Missense_Mutation_p.A303V|TPO_uc010yio.1_Intron|TPO_uc010yip.1_Missense_Mutation_p.A303V	1,1			benign(0.076)	p.A303V	NM_000547	NP_000538		tolerated(0.2)	1,1	PERT_HUMAN	TPO	HGNC	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Q53QT2_HUMAN,C9J511_HUMAN		8	999	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	UPI000013D480	303			Extracellular (Potential).		SNV	TPO,missense_variant,p.Ala232Val,ENST00000422464,;TPO,missense_variant,p.Ala303Val,ENST00000345913,NM_000547.5;TPO,missense_variant,p.Ala303Val,ENST00000329066,NM_001206744.1;TPO,missense_variant,p.Ala303Val,ENST00000337415,;TPO,missense_variant,p.Ala303Val,ENST00000346956,NM_175721.3;TPO,missense_variant,p.Ala303Val,ENST00000382201,NM_001206745.1,NM_175719.3;TPO,intron_variant,,ENST00000349624,;TPO,intron_variant,,ENST00000382198,NM_175722.3;TPO,intron_variant,,ENST00000497517,;	uc002qww.2	c.908C>T	991/3138	1	1			c.908C>T						2	SNP	c.(907-909)GCG>GTG	4	4			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	Broad	thyroid peroxidase isoform a		Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	1480946		0.706	ENSG00000115705	16160	g.chr2:1480946C>T	cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			723			723	12.368564	KEEP	3	3	-1	6	5	3	3	-1	12.442166	6	5	0.416667	1	0	0	0	0	1	0	0	0	--	--		0	T			TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.A303V|TPO_uc002qwr.2_Missense_Mutation_p.A303V|TPO_uc002qwx.2_Missense_Mutation_p.A303V|TPO_uc010yio.1_Intron|TPO_uc010yip.1_Missense_Mutation_p.A303V	239	GBM-32-2615-TP	p.A303V	C	GACCAAGGCGCGCTCTTTGGG	NM_000547	NP_000538	1480946	P07202	PERT_HUMAN	0		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	8	999	+	T	T	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	Missense_Mutation	303			Extracellular (Potential).			
TPO	0	broad.mit.edu	GRCh37	2	1457495	1457495	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs139312937		TCGA-76-4926-01	TCGA-76-4926-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329066.4:c.512C>T	p.Thr171Met	p.T171M	ENST00000329066	NM_001206744.1	171	aCg/aTg	0	T:0		1			T	T/M	uc002qww.2	protein_coding		CCDS1643.1			512/2802									ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	c.(511-513)ACG>ATG			Gene3D:1.10.640.10,Pfam_domain:PF03098,PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF60,Superfamily_domains:SSF48113	thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)		T:0.0001	ENSP00000329869		17-Jun	1.65E-05					3.01E-05			rs139312937,COSM170005,COSM3406918	17-Jun	.		ENST00000329066	Transcript	1		cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	ENSG00000115705	g.chr2:1457495C>T	12015			MODERATE		2.15	medium	getma.org/?cm=msa&ty=f&p=PERT_HUMAN&rb=151&re=709&var=T171M	getma.org/pdb.php?prot=PERT_HUMAN&from=151&to=709&var=T171M	getma.org/?cm=var&var=hg19,2,1457495,C,T&fts=all	T171M	--	--	1																																		TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.T171M|TPO_uc002qwr.2_Missense_Mutation_p.T171M|TPO_uc002qwx.2_Missense_Mutation_p.T171M|TPO_uc010yio.1_Missense_Mutation_p.T171M|TPO_uc010yip.1_Missense_Mutation_p.T171M	0,1,1			possibly_damaging(0.875)	p.T171M	NM_000547	NP_000538		deleterious(0.03)	0,1,1	PERT_HUMAN	TPO	HGNC	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Q53QT2_HUMAN,C9J511_HUMAN		6	603	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	UPI000013D480	171			Extracellular (Potential).		SNV	TPO,missense_variant,p.Thr100Met,ENST00000422464,;TPO,missense_variant,p.Thr171Met,ENST00000345913,NM_000547.5;TPO,missense_variant,p.Thr171Met,ENST00000329066,NM_001206744.1;TPO,missense_variant,p.Thr171Met,ENST00000337415,;TPO,missense_variant,p.Thr171Met,ENST00000346956,NM_175721.3;TPO,missense_variant,p.Thr171Met,ENST00000382201,NM_001206745.1,NM_175719.3;TPO,missense_variant,p.Thr171Met,ENST00000349624,;TPO,missense_variant,p.Thr171Met,ENST00000382198,NM_175722.3;TPO,missense_variant,p.Thr171Met,ENST00000423320,;TPO,intron_variant,,ENST00000497517,;	uc002qww.2	c.512C>T	595/3138	1	1			c.512C>T						2	SNP	c.(511-513)ACG>ATG	2	2			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	Broad	thyroid peroxidase isoform a		Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	1457495		0.587	ENSG00000115705	16160	g.chr2:1457495C>T	cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			723			723	292.954656	KEEP	67	61	-1	95	129	67	61	-1	297.424483	95	129	0.371336	1	0	0	0	0	1	0	0	0	--	--		0	T			TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.T171M|TPO_uc002qwr.2_Missense_Mutation_p.T171M|TPO_uc002qwx.2_Missense_Mutation_p.T171M|TPO_uc010yio.1_Missense_Mutation_p.T171M|TPO_uc010yip.1_Missense_Mutation_p.T171M	266	GBM-76-4926-TP	p.T171M	C	GCCTCCAACACGGCCCTGGCA	NM_000547	NP_000538	1457495	P07202	PERT_HUMAN	0		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	6	603	+	T	T	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	Missense_Mutation	171			Extracellular (Potential).			
TPR	0	broad.mit.edu	GRCh37	1	186310460	186310460	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-27-1837-01	TCGA-27-1837-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367478.4:c.3812T>C	p.Val1271Ala	p.V1271A	ENST00000367478	NM_003292.2	1271	gTa/gCa	0			1			G	V/A	uc001grv.2	protein_coding	YES	CCDS41446.1			3812/7092	T		NTRK1		papillary thyroid				ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7	c.(3811-3813)GTA>GCA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18898	nuclear pore complex-associated protein TPR				ENSP00000356448		28/51									COSM3400114	28/51	.		ENST00000367478	Transcript	1		carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	ENSG00000047410	g.chr1:186310460A>G	12017			MODERATE		-0.935	neutral	getma.org/?cm=msa&ty=f&p=TPR_HUMAN&rb=1242&re=1271&var=V1271A	NA	getma.org/?cm=var&var=hg19,1,186310460,A,G&fts=all	V1271A	--	--	1																																			1	1		benign(0.027)	p.V1271A	NM_003292	NP_003283			1	TPR_HUMAN	TPR	HGNC	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	Q9UE33_HUMAN		28	4109	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	UPI000046FCF4	1271			Potential.		SNV	TPR,missense_variant,p.Val1271Ala,ENST00000367478,NM_003292.2;TPR,non_coding_transcript_exon_variant,,ENST00000481347,;	uc001grv.2	c.3812T>C	4109/9708	3	3			c.3812T>C	T		NTRK1		papillary thyroid	1	SNP	c.(3811-3813)GTA>GCA	63	63			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7	Broad	nuclear pore complex-associated protein TPR			186310460		0.343	ENSG00000047410	16166	g.chr1:186310460A>G	carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			1949			1949	211.239773	KEEP	27	40	-1	40	51	27	40	-1	212.151103	40	51	0.416107	1	0	0	0	0	1	0	0	0	--	--		0	G				196	GBM-27-1837-TP	p.V1271A	A	CTCCATAACTACATTCATTGT	NM_003292	NP_003283	186310460	P12270	TPR_HUMAN	0		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	28	4109	-	G	G		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	Missense_Mutation	1271			Potential.			
TPRG1	0	broad.mit.edu	GRCh37	3	189038544	189038544	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-76-6192-01	TCGA-76-6192-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345063.3:c.763A>T	p.Met255Leu	p.M255L	ENST00000345063	NM_198485.3	255	Atg/Ttg	0			1			T	M/L	uc003frv.1	protein_coding	YES	CCDS3292.1			763/828										0	c.(763-765)ATG>TTG			hmmpanther:PTHR31108,hmmpanther:PTHR31108:SF2	tumor protein p63 regulated 1				ENSP00000341031		6-Jun									COSM3408502	6-Jun	.		ENST00000345063	Transcript						ENSG00000188001	g.chr3:189038544A>T	24759			MODERATE		2.275	medium	getma.org/?cm=msa&ty=f&p=TPRG1_HUMAN&rb=175&re=275&var=M255L	NA	getma.org/?cm=var&var=hg19,3,189038544,A,T&fts=all	M255L	--	--	1																																		TPRG1_uc003frw.1_Missense_Mutation_p.M255L	1	1		benign(0.014)	p.M255L	NM_198485	NP_940887		deleterious(0.03)	1	TPRG1_HUMAN	TPRG1	HGNC	Q6ZUI0	TPRG1_HUMAN	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)	C9JDW1_HUMAN		11	1990	+	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	UPI00001C08BF	255					SNV	TPRG1,missense_variant,p.Met255Leu,ENST00000345063,NM_198485.3;TPRG1,missense_variant,p.Met255Leu,ENST00000433971,;TPRG1,downstream_gene_variant,,ENST00000485836,;	uc003frv.1	c.763A>T	930/5479	2	2			c.763A>T						3	SNP	c.(763-765)ATG>TTG	48	48				0	Broad	tumor protein p63 regulated 1			189038544		0.433	ENSG00000188001	16168	g.chr3:189038544A>T										7.448199	KEEP	3	2	-1	22	13	3	2	-1	12.462476	22	13	0.131579	1	0	0	0	0	1	0	0	0	--	--		0	T			TPRG1_uc003frw.1_Missense_Mutation_p.M255L	275	GBM-76-6192-TP	p.M255L	A	CACAGGGCTGATGTCATTCAT	NM_198485	NP_940887	189038544	Q6ZUI0	TPRG1_HUMAN	0	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)	11	1990	+	T	T	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Missense_Mutation	255						
TPRG1L	0	broad.mit.edu	GRCh37	1	3545150	3545150	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01	TCGA-41-4097-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378344.2:c.802G>A	p.Gly268Ser	p.G268S	ENST00000378344	NM_182752.3	268	Ggc/Agc	0			1			A	G/S	uc001akm.2	protein_coding	YES	CCDS47.1			802/819										0	c.(802-804)GGC>AGC			hmmpanther:PTHR31108:SF3,hmmpanther:PTHR31108	tumor protein p63 regulated 1-like				ENSP00000367595		5-May									COSM3400710	5-May	.		ENST00000378344	Transcript				cell junction|synaptic vesicle		ENSG00000158109	g.chr1:3545150G>A	27007			MODERATE		2.26	medium	getma.org/?cm=msa&ty=f&p=TPRGL_HUMAN&rb=172&re=272&var=G268S	NA	getma.org/?cm=var&var=hg19,1,3545150,G,A&fts=all	G268S	--	--	1																																		TPRG1L_uc009vlj.2_Missense_Mutation_p.G209S	1	1		possibly_damaging(0.893)	p.G268S	NM_182752	NP_877429		deleterious(0.05)	1	TPRGL_HUMAN	TPRG1L	HGNC	Q5T0D9	TPRGL_HUMAN		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)			5	883	+	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	UPI000014067B	268					SNV	TPRG1L,missense_variant,p.Gly268Ser,ENST00000378344,NM_182752.3;TPRG1L,missense_variant,p.Gly209Ser,ENST00000344579,;WRAP73,downstream_gene_variant,,ENST00000378322,;WRAP73,downstream_gene_variant,,ENST00000270708,NM_017818.3;WRAP73,downstream_gene_variant,,ENST00000424367,;RP11-46F15.2,upstream_gene_variant,,ENST00000435049,;WRAP73,downstream_gene_variant,,ENST00000471223,;WRAP73,downstream_gene_variant,,ENST00000497940,;WRAP73,downstream_gene_variant,,ENST00000469643,;	uc001akm.2	c.802G>A	873/2414	1	1			c.802G>A						1	SNP	c.(802-804)GGC>AGC	64	64				0	Broad	tumor protein p63 regulated 1-like			3545150		0.612	ENSG00000158109	16169	g.chr1:3545150G>A		cell junction|synaptic vesicle								1.232333	KEEP	2	1	-1	12	24	2	1	-1	7.551901	12	24	0.083333	1	0	0	0	0	1	0	0	0	--	--		0	A			TPRG1L_uc009vlj.2_Missense_Mutation_p.G209S	257	GBM-41-4097-TP	p.G268S	G	CATGACCAGGGGCAAAATAGG	NM_182752	NP_877429	3545150	Q5T0D9	TPRGL_HUMAN	0		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)	5	883	+	A	A	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	Missense_Mutation	268						
TPRN	0	broad.mit.edu	GRCh37	9	140086667	140086667	+	intron_variant	Intron	SNP	C	C	T			TCGA-41-3393-01	TCGA-41-3393-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409012.4:c.2074-41G>A		*692*	ENST00000409012	NM_001128228.2			0			1			T		uc004clt.2	protein_coding	YES	CCDS56594.1			-/2136										0	c.(1933-1935)CGG>CAG				hypothetical protein LOC286262 isoform 2				ENSP00000387100			8.24E-06					1.52E-05			rs752497825,COSM3413484		.		ENST00000409012	Transcript	1		sensory perception of sound	stereocilium		ENSG00000176058	g.chr9:140086667C>T	26894			MODIFIER	3-Mar							--	--	1																																		TPRN_uc004clu.2_Intron	0,1	1			p.R645Q	NM_173691	NP_775962			0,1	TPRN_HUMAN	TPRN	HGNC	Q4KMQ1	TPRN_HUMAN			Q86WR5_HUMAN		3	1934	-			UPI0001722188	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					SNV	TPRN,missense_variant,p.Arg645Gln,ENST00000321773,;TPRN,missense_variant,p.Arg504Gln,ENST00000333046,;TPRN,intron_variant,,ENST00000409012,NM_001128228.2;ANAPC2,upstream_gene_variant,,ENST00000323927,NM_013366.3;SSNA1,downstream_gene_variant,,ENST00000322310,NM_003731.2;SSNA1,downstream_gene_variant,,ENST00000459860,;SSNA1,downstream_gene_variant,,ENST00000464553,;SSNA1,downstream_gene_variant,,ENST00000463511,;TPRN,downstream_gene_variant,,ENST00000541945,;TPRN,intron_variant,,ENST00000477345,;	uc004clt.2	c.1934G>A	-/2718	2	2			c.1934G>A						9	SNP	c.(1933-1935)CGG>CAG	33	33				0	Broad	hypothetical protein LOC286262 isoform 2			140086667		0.662	ENSG00000176058	16171	g.chr9:140086667C>T	sensory perception of sound	stereocilium								95.233622	KEEP	17	21	-1	49	61	17	21	-1	101.593138	49	61	0.272059	1	0	0	0	0	1	0	0	0	--	--		0	T			TPRN_uc004clu.2_Intron	255	GBM-41-3393-TP	p.R645Q	C	TGGGCTCGCCCGGGTGTCAGA	NM_173691	NP_775962	140086667	Q4KMQ1	TPRN_HUMAN	0			3	1934	-	T	T			Missense_Mutation	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						
TPSAB1	0	broad.mit.edu	GRCh37	16	1291199	1291199	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-6391-01	TCGA-06-6391-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338844.3:c.107A>G	p.Glu36Gly	p.E36G	ENST00000338844	NM_003294.3	36	gAg/gGg	0			1			G	E/G	uc002ckz.2	protein_coding	YES	CCDS10431.1			107/828										0	c.(106-108)GAG>GGG			PROSITE_profiles:PS50240,hmmpanther:PTHR24268,hmmpanther:PTHR24268:SF98,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494	tryptase alpha/beta 1 precursor				ENSP00000343577		6-Mar										6-Mar	.		ENST00000338844	Transcript			defense response|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	ENSG00000172236	g.chr16:1291199A>G	12019			MODERATE		2.46	medium	getma.org/?cm=msa&ty=f&p=TRYB1_HUMAN&rb=31&re=267&var=E36G	getma.org/pdb.php?prot=TRYB1_HUMAN&from=31&to=267&var=E36G	getma.org/?cm=var&var=hg19,16,1291199,A,G&fts=all	E36G	--	--	1																																		TPSAB1_uc010uux.1_5'UTR		1		probably_damaging(0.953)	p.E36G	NM_003294	NP_003285		tolerated(0.06)		TRYB2_HUMAN,TRYB1_HUMAN	TPSAB1	HGNC	Q15661	TRYB1_HUMAN					3	159	+		Hepatocellular(780;0.00369)	UPI0000137302	36			Peptidase S1.		SNV	TPSAB1,missense_variant,p.Glu43Gly,ENST00000461509,;TPSAB1,missense_variant,p.Glu36Gly,ENST00000338844,NM_003294.3;TPSAB1,upstream_gene_variant,,ENST00000561736,;TPSAB1,non_coding_transcript_exon_variant,,ENST00000562432,;	uc002ckz.2	c.107A>G	140/1175	4	4			c.107A>G						16	SNP	c.(106-108)GAG>GGG	22	22				0	Broad	tryptase alpha/beta 1 precursor			1291199		0.711	ENSG00000172236	16173	g.chr16:1291199A>G	defense response|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity							45.637151	KEEP	13	8	-1	31	39	13	8	-1	50.405946	31	39	0.232877	1	0	0	0	0	1	0	0	0	--	--		0	G			TPSAB1_uc010uux.1_5'UTR	107	GBM-06-6391-TP	p.E36G	A	GGGGGTCAGGAGGCCCCCAGG	NM_003294	NP_003285	1291199	Q15661	TRYB1_HUMAN	0			3	159	+	G	G		Hepatocellular(780;0.00369)	Missense_Mutation	36			Peptidase S1.			
TPSD1	0	broad.mit.edu	GRCh37	16	1306608	1306608	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000211076.3:c.174C>T	p.Arg58=	p.R58=	ENST00000211076	NM_012217.2	58	cgC/cgT	0			1			T	R	uc002clb.1	protein_coding	YES	CCDS10432.1			174/729										0	c.(172-174)CGC>CGT			PROSITE_profiles:PS50240,hmmpanther:PTHR24268,hmmpanther:PTHR24268:SF96,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494	tryptase delta 1 precursor				ENSP00000211076		5-Feb	8.24E-06					1.52E-05			rs778229260,COSM3402078	5-Feb	.		ENST00000211076	Transcript			proteolysis	extracellular region	serine-type endopeptidase activity	ENSG00000095917	g.chr16:1306608C>T	14118			LOW								--	--	1																																		TPSD1_uc010brm.1_5'UTR	0,1	1			p.R58R	NM_012217	NP_036349			0,1	TRYD_HUMAN	TPSD1	HGNC	Q9BZJ3	TRYD_HUMAN					2	183	+		Hepatocellular(780;0.00369)	UPI000007066B	58			Peptidase S1.		SNV	TPSD1,synonymous_variant,p.=,ENST00000211076,NM_012217.2;TPSD1,synonymous_variant,p.=,ENST00000397534,;PRSS29P,downstream_gene_variant,,ENST00000568091,;PRSS29P,downstream_gene_variant,,ENST00000440800,;RP11-616M22.5,upstream_gene_variant,,ENST00000566997,;	uc002clb.1	c.174C>T	322/963	1	1			c.174C>T						16	SNP	c.(172-174)CGC>CGT	8	8				0	Broad	tryptase delta 1 precursor			1306608		0.697	ENSG00000095917	16175	g.chr16:1306608C>T	proteolysis	extracellular region	serine-type endopeptidase activity							158.752561	KEEP	31	42	-1	54	57	31	42	-1	160.023077	54	57	0.403846	1	0	0	0	0	0	0	1	0	--	--		0	T			TPSD1_uc010brm.1_5'UTR	131	GBM-12-5301-TP	p.R58R	C	TGAGAGTCCGCGGCCCATACT	NM_012217	NP_036349	1306608	Q9BZJ3	TRYD_HUMAN	0			2	183	+	T	T		Hepatocellular(780;0.00369)	Silent	58			Peptidase S1.			
TPST1	8460	broad.mit.edu	GRCh37	7	65751542	65751542	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01	TCGA-06-0155-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000304842.5:c.890G>A	p.Gly297Glu	p.G297E	ENST00000304842	NM_003596.3	297	gGa/gAa	0			1			A	G/E	uc003tuw.2	protein_coding	YES	CCDS5533.1			890/1113										0	c.(889-891)GGA>GAA			hmmpanther:PTHR12788,hmmpanther:PTHR12788:SF4,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	tyrosylprotein sulfotransferase 1				ENSP00000302413		6-Mar									COSM2149966	6-Mar	.		ENST00000304842	Transcript			inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	ENSG00000169902	g.chr7:65751542G>A	12020			MODERATE		-1.78	neutral	getma.org/?cm=msa&ty=f&p=TPST1_HUMAN&rb=265&re=370&var=G297E	getma.org/pdb.php?prot=TPST1_HUMAN&from=265&to=370&var=G297E	getma.org/?cm=var&var=hg19,7,65751542,G,A&fts=all	G297E	--	--	1																																		TPST1_uc010kzy.2_RNA|TPST1_uc010kzz.2_Missense_Mutation_p.G297E|TPST1_uc010laa.2_Missense_Mutation_p.G297E	1	1		benign(0)	p.G297E	NM_003596	NP_003587		tolerated(1)	1	TPST1_HUMAN	TPST1	HGNC	O60507	TPST1_HUMAN			Q75ML6_HUMAN,Q75M96_HUMAN,C9K0F3_HUMAN,C9J3I4_HUMAN		3	1242	+			UPI0000000CD1	297			Lumenal (Potential).		SNV	TPST1,missense_variant,p.Gly297Glu,ENST00000304842,NM_003596.3;TPST1,non_coding_transcript_exon_variant,,ENST00000480281,;	uc003tuw.2	c.890G>A	1315/2116	2	2			c.890G>A						7	SNP	c.(889-891)GGA>GAA	21	21				0	Broad	tyrosylprotein sulfotransferase 1			65751542		0.368	ENSG00000169902	16177	g.chr7:65751542G>A	inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity							105.126435	KEEP	22	26	-1	65	70	22	26	-1	113.178207	65	70	0.25974	1	0	0	0	0	1	0	0	0	--	--		0	A			TPST1_uc010kzy.2_RNA|TPST1_uc010kzz.2_Missense_Mutation_p.G297E|TPST1_uc010laa.2_Missense_Mutation_p.G297E	27	GBM-06-0155-TP	p.G297E	G	GTCAATGTAGGAGCTCTATCA	NM_003596	NP_003587	65751542	O60507	TPST1_HUMAN	0			3	1242	+	A	A			Missense_Mutation	297			Lumenal (Potential).			
TPST2	8459		GRCh37	22	26937392	26937392	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000338754.4:c.205C>T	p.Pro69Ser	p.P69S	ENST00000338754	NM_003595.3	69	Ccg/Tcg	0																																																																																																																																																																																																																																												
TPTE	7179		GRCh37	21	10969096	10969096	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000361285.4:c.152G>A	p.Arg51Gln	p.R51Q	ENST00000361285	NM_199261.2	51	cGg/cAg	0																																																																																																																																																																																																																																												
TPTE	7179		GRCh37	21	10906911	10906911	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000361285.4:c.1650C>T	p.Ser550=	p.S550=	ENST00000361285	NM_199261.2	550	tcC/tcT	0																																																																																																																																																																																																																																												
TPTE2	93492	broad.mit.edu	GRCh37	13	20041405	20041405	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-02-0047-01	TCGA-02-0047-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400230.2:c.472T>G	p.Tyr158Asp	p.Y158D	ENST00000400230		158	Tac/Gac	0			1			C	Y/D	uc001umd.2	protein_coding	YES	CCDS45014.1			472/1569										0	c.(472-474)TAC>GAC			Transmembrane_helices:TMhelix,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	TPTE and PTEN homologous inositol lipid				ENSP00000383089		20-Jul									COSM2149024	20-Jul	.		ENST00000400230	Transcript				endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000132958	g.chr13:20041405A>C	17299			MODERATE		2.395	medium	getma.org/?cm=msa&ty=f&p=TPTE2_HUMAN&rb=111&re=216&var=Y158D	NA	getma.org/?cm=var&var=hg19,13,20041405,A,C&fts=all	Y158D	--	--	1																																		TPTE2_uc009zzk.2_Intron|TPTE2_uc009zzl.2_Intron|TPTE2_uc001ume.2_Intron|TPTE2_uc009zzm.2_Intron|TPTE2_uc010tcm.1_RNA	1	1		possibly_damaging(0.568)	p.Y158D	NM_199254	NP_954863		deleterious(0.01)	1	TPTE2_HUMAN	TPTE2	HGNC	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)			8	683	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	UPI000040738D	158			Helical; (Potential).		SNV	TPTE2,missense_variant,p.Tyr158Asp,ENST00000400230,;TPTE2,missense_variant,p.Tyr158Asp,ENST00000382977,NM_199254.2;TPTE2,intron_variant,,ENST00000382978,;TPTE2,intron_variant,,ENST00000382975,;TPTE2,intron_variant,,ENST00000400103,NM_001141968.1;TPTE2,intron_variant,,ENST00000255310,;TPTE2,intron_variant,,ENST00000390680,NM_130785.3;TPTE2,intron_variant,,ENST00000457266,;TPTE2,intron_variant,,ENST00000462409,;	uc001umd.2	c.472T>G	517/1793	4	4			c.472T>G						13	SNP	c.(472-474)TAC>GAC	48	48				0	Broad	TPTE and PTEN homologous inositol lipid			20041405		0.294	ENSG00000132958	16181	g.chr13:20041405A>C		endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity							112.177983	KEEP	14	22	-1	29	44	14	22	-1	114.055831	29	44	0.347826	1	0	0	0	0	1	0	0	0	--	--		0	C			TPTE2_uc009zzk.2_Intron|TPTE2_uc009zzl.2_Intron|TPTE2_uc001ume.2_Intron|TPTE2_uc009zzm.2_Intron|TPTE2_uc010tcm.1_RNA	3	GBM-02-0047-TP	p.Y158D	A	AAAAAAATGTAAATGACATCA	NM_199254	NP_954863	20041405	Q6XPS3	TPTE2_HUMAN	0		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	8	683	-	C	C		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	Missense_Mutation	158			Helical; (Potential).			
TPTE2	93492	broad.mit.edu	GRCh37	13	20039688	20039688	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400230.2:c.529C>T	p.Arg177Ter	p.R177*	ENST00000400230		177	Cga/Tga	0		A:0	1	A:0		A	R/*	uc001umd.2	protein_coding	YES	CCDS45014.1			529/1569										0	c.(529-531)CGA>TGA			Low_complexity_(Seg):seg,hmmpanther:PTHR12305,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	TPTE and PTEN homologous inositol lipid		A:0.001		ENSP00000383089	A:0	20-Aug	3.30E-05			0.000244				6.60E-05	rs538397448,COSM2150468,COSM2150467	20-Aug	.		ENST00000400230	Transcript		A:0.0002		endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000132958	g.chr13:20039688G>A	17299			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,13,20039688,G,A&fts=all	R177*	--	--	1																																		TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Nonsense_Mutation_p.R66*|TPTE2_uc001ume.2_Nonsense_Mutation_p.R100*|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA	0,1,1	1			p.R177*	NM_199254	NP_954863	A:0		0,1,1	TPTE2_HUMAN	TPTE2	HGNC	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)			9	740	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	UPI000040738D	177					SNV	TPTE2,stop_gained,p.Arg177Ter,ENST00000400230,;TPTE2,stop_gained,p.Arg177Ter,ENST00000382977,NM_199254.2;TPTE2,stop_gained,p.Arg137Ter,ENST00000382978,;TPTE2,stop_gained,p.Arg137Ter,ENST00000382975,;TPTE2,stop_gained,p.Arg66Ter,ENST00000400103,NM_001141968.1;TPTE2,stop_gained,p.Arg100Ter,ENST00000255310,;TPTE2,stop_gained,p.Arg100Ter,ENST00000390680,NM_130785.3;TPTE2,stop_gained,p.Arg66Ter,ENST00000457266,;TPTE2,stop_gained,p.Arg46Ter,ENST00000462409,;	uc001umd.2	c.529C>T	574/1793	5	2			c.529C>T						13	SNP	c.(529-531)CGA>TGA	47	47				0	Broad	TPTE and PTEN homologous inositol lipid			20039688		0.289	ENSG00000132958	16181	g.chr13:20039688G>A		endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity							77.96433	KEEP	11	14	-1	17	18	11	14	-1	78.328174	17	18	0.416667	1	0	0	0	0	0	1	0	0	--	--		0	A			TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Nonsense_Mutation_p.R66*|TPTE2_uc001ume.2_Nonsense_Mutation_p.R100*|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA	39	GBM-06-0184-TP	p.R177*	G	CGTAGAAGTCGAACTAAATGT	NM_199254	NP_954863	20039688	Q6XPS3	TPTE2_HUMAN	0		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	9	740	-	A	A		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	Nonsense_Mutation	177						
TPTE2	93492	broad.mit.edu	GRCh37	13	20039688	20039688	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0743-01	TCGA-06-0743-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400230.2:c.529C>T	p.Arg177Ter	p.R177*	ENST00000400230		177	Cga/Tga	0		A:0	1	A:0		A	R/*	uc001umd.2	protein_coding	YES	CCDS45014.1			529/1569										0	c.(529-531)CGA>TGA			Low_complexity_(Seg):seg,hmmpanther:PTHR12305,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	TPTE and PTEN homologous inositol lipid		A:0.001		ENSP00000383089	A:0	20-Aug	3.30E-05			0.000244				6.60E-05	rs538397448,COSM2150468,COSM2150467	20-Aug	.		ENST00000400230	Transcript		A:0.0002		endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000132958	g.chr13:20039688G>A	17299			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,13,20039688,G,A&fts=all	R177*	--	--	1																																		TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Nonsense_Mutation_p.R66*|TPTE2_uc001ume.2_Nonsense_Mutation_p.R100*|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA	0,1,1	1			p.R177*	NM_199254	NP_954863	A:0		0,1,1	TPTE2_HUMAN	TPTE2	HGNC	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)			9	740	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	UPI000040738D	177					SNV	TPTE2,stop_gained,p.Arg177Ter,ENST00000400230,;TPTE2,stop_gained,p.Arg177Ter,ENST00000382977,NM_199254.2;TPTE2,stop_gained,p.Arg137Ter,ENST00000382978,;TPTE2,stop_gained,p.Arg137Ter,ENST00000382975,;TPTE2,stop_gained,p.Arg66Ter,ENST00000400103,NM_001141968.1;TPTE2,stop_gained,p.Arg100Ter,ENST00000255310,;TPTE2,stop_gained,p.Arg100Ter,ENST00000390680,NM_130785.3;TPTE2,stop_gained,p.Arg66Ter,ENST00000457266,;TPTE2,stop_gained,p.Arg46Ter,ENST00000462409,;	uc001umd.2	c.529C>T	574/1793	5	2			c.529C>T						13	SNP	c.(529-531)CGA>TGA	47	47				0	Broad	TPTE and PTEN homologous inositol lipid			20039688		0.289	ENSG00000132958	16181	g.chr13:20039688G>A		endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity							50.960618	KEEP	8	10	-1	16	15	8	10	-1	51.860689	16	15	0.354167	1	0	0	0	0	0	1	0	0	--	--		0	A			TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Nonsense_Mutation_p.R66*|TPTE2_uc001ume.2_Nonsense_Mutation_p.R100*|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA	65	GBM-06-0743-TP	p.R177*	G	CGTAGAAGTCGAACTAAATGT	NM_199254	NP_954863	20039688	Q6XPS3	TPTE2_HUMAN	0		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	9	740	-	A	A		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	Nonsense_Mutation	177						
TPTE2	93492	broad.mit.edu	GRCh37	13	20039439	20039439	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs146223410		TCGA-06-5417-01	TCGA-06-5417-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400230.2:c.632G>A	p.Arg211Gln	p.R211Q	ENST00000400230		211	cGa/cAa	0	T:0.0011	T:0.0015	1	T:0		T	R/Q	uc001umd.2	protein_coding	YES	CCDS45014.1			632/1569										0	c.(631-633)CGA>CAA			Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51181,hmmpanther:PTHR12305,Gene3D:3.90.190.10	TPTE and PTEN homologous inositol lipid		T:0	T:0	ENSP00000383089	T:0	20-Sep	0.000165	0.00183				1.50E-05			rs146223410,COSM226285,COSM3399263	20-Sep	common_variant		ENST00000400230	Transcript		T:0.0004		endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000132958	g.chr13:20039439C>T	17299			MODERATE		2.39	medium	getma.org/?cm=msa&ty=f&p=TPTE2_HUMAN&rb=111&re=216&var=R211Q	NA	getma.org/?cm=var&var=hg19,13,20039439,C,T&fts=all	R211Q	--	--	1																																		TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.R100Q|TPTE2_uc001ume.2_Missense_Mutation_p.R134Q|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA	0,1,1	1		possibly_damaging(0.672)	p.R211Q	NM_199254	NP_954863	T:0	deleterious(0.04)	0,1,1	TPTE2_HUMAN	TPTE2	HGNC	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)			10	843	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	UPI000040738D	211			Phosphatase tensin-type.		SNV	TPTE2,missense_variant,p.Arg211Gln,ENST00000400230,;TPTE2,missense_variant,p.Arg211Gln,ENST00000382977,NM_199254.2;TPTE2,missense_variant,p.Arg171Gln,ENST00000382978,;TPTE2,missense_variant,p.Arg171Gln,ENST00000382975,;TPTE2,missense_variant,p.Arg100Gln,ENST00000400103,NM_001141968.1;TPTE2,missense_variant,p.Arg134Gln,ENST00000255310,;TPTE2,missense_variant,p.Arg134Gln,ENST00000390680,NM_130785.3;TPTE2,missense_variant,p.Arg100Gln,ENST00000457266,;TPTE2,missense_variant,p.Arg80Gln,ENST00000462409,;	uc001umd.2	c.632G>A	677/1793	1	1			c.632G>A						13	SNP	c.(631-633)CGA>CAA	7	7				0	Broad	TPTE and PTEN homologous inositol lipid			20039439		0.308	ENSG00000132958	16181	g.chr13:20039439C>T		endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity							-41.809305	KEEP	4	1	-1	127	113	4	1	-1	8.535636	127	113	0.024876	1	0	0	0	0	1	0	0	0	--	--		0	T			TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.R100Q|TPTE2_uc001ume.2_Missense_Mutation_p.R134Q|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA	99	GBM-06-5417-TP	p.R211Q	C	CCTTGTGTATCGCCTTTTGTT	NM_199254	NP_954863	20039439	Q6XPS3	TPTE2_HUMAN	0		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	10	843	-	T	T		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	Missense_Mutation	211			Phosphatase tensin-type.			
TPTE2	93492	broad.mit.edu	GRCh37	13	20067042	20067042	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400230.2:c.67C>T	p.Pro23Ser	p.P23S	ENST00000400230		23	Cca/Tca	0			1			A	P/S	uc001umd.2	protein_coding	YES	CCDS45014.1			67/1569										0	c.(67-69)CCA>TCA				TPTE and PTEN homologous inositol lipid				ENSP00000383089		20-Mar									COSM695873,COSM695872	20-Mar	.		ENST00000400230	Transcript				endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000132958	g.chr13:20067042G>A	17299			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=TPTE2_HUMAN&rb=1&re=110&var=P23S	NA	getma.org/?cm=var&var=hg19,13,20067042,G,A&fts=all	P23S	--	--	1																																		TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.P23S|TPTE2_uc001ume.2_Missense_Mutation_p.P23S|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA	1,1	1		benign(0.003)	p.P23S	NM_199254	NP_954863		tolerated_low_confidence(0.52)	1,1	TPTE2_HUMAN	TPTE2	HGNC	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)			4	278	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	UPI000040738D	23					SNV	TPTE2,missense_variant,p.Pro23Ser,ENST00000400230,;TPTE2,missense_variant,p.Pro23Ser,ENST00000382977,NM_199254.2;TPTE2,missense_variant,p.Pro23Ser,ENST00000382978,;TPTE2,missense_variant,p.Pro23Ser,ENST00000382975,;TPTE2,missense_variant,p.Pro23Ser,ENST00000400103,NM_001141968.1;TPTE2,missense_variant,p.Pro23Ser,ENST00000255310,;TPTE2,missense_variant,p.Pro23Ser,ENST00000390680,NM_130785.3;TPTE2,missense_variant,p.Pro23Ser,ENST00000457266,;TPTE2,missense_variant,p.Pro23Ser,ENST00000462409,;	uc001umd.2	c.67C>T	112/1793	1	1			c.67C>T						13	SNP	c.(67-69)CCA>TCA	52	52				0	Broad	TPTE and PTEN homologous inositol lipid			20067042		0.353	ENSG00000132958	16181	g.chr13:20067042G>A		endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity							257.023429	KEEP	30	52	-1	39	41	30	52	-1	257.024853	39	41	0.503356	1	0	0	0	0	1	0	0	0	--	--		0	A			TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.P23S|TPTE2_uc001ume.2_Missense_Mutation_p.P23S|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA	102	GBM-06-5858-TP	p.P23S	G	CTTGTGTGTGGGCTAGAGGAT	NM_199254	NP_954863	20067042	Q6XPS3	TPTE2_HUMAN	0		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	4	278	-	A	A		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	Missense_Mutation	23						
TPTE2	93492	broad.mit.edu	GRCh37	13	20039678	20039678	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6390-01	TCGA-06-6390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400230.2:c.539G>A	p.Arg180Gln	p.R180Q	ENST00000400230		180	cGa/cAa	0		T:0	1	T:0		T	R/Q	uc001umd.2	protein_coding	YES	CCDS45014.1			539/1569										0	c.(538-540)CGA>CAA			Low_complexity_(Seg):seg,hmmpanther:PTHR12305,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	TPTE and PTEN homologous inositol lipid		T:0.001		ENSP00000383089	T:0	20-Aug	8.24E-06							6.39E-05	rs555974519,COSM2153453,COSM2153452	20-Aug	.		ENST00000400230	Transcript		T:0.0004		endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000132958	g.chr13:20039678C>T	17299			MODERATE		2.845	medium	getma.org/?cm=msa&ty=f&p=TPTE2_HUMAN&rb=111&re=216&var=R180Q	NA	getma.org/?cm=var&var=hg19,13,20039678,C,T&fts=all	R180Q	--	--	1																																		TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.R69Q|TPTE2_uc001ume.2_Missense_Mutation_p.R103Q|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA	0,1,1	1		probably_damaging(0.997)	p.R180Q	NM_199254	NP_954863	T:0.001	deleterious(0.01)	0,1,1	TPTE2_HUMAN	TPTE2	HGNC	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)			9	750	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	UPI000040738D	180					SNV	TPTE2,missense_variant,p.Arg180Gln,ENST00000400230,;TPTE2,missense_variant,p.Arg180Gln,ENST00000382977,NM_199254.2;TPTE2,missense_variant,p.Arg140Gln,ENST00000382978,;TPTE2,missense_variant,p.Arg140Gln,ENST00000382975,;TPTE2,missense_variant,p.Arg69Gln,ENST00000400103,NM_001141968.1;TPTE2,missense_variant,p.Arg103Gln,ENST00000255310,;TPTE2,missense_variant,p.Arg103Gln,ENST00000390680,NM_130785.3;TPTE2,missense_variant,p.Arg69Gln,ENST00000457266,;TPTE2,missense_variant,p.Arg49Gln,ENST00000462409,;	uc001umd.2	c.539G>A	584/1793	2	2			c.539G>A						13	SNP	c.(538-540)CGA>CAA	28	28				0	Broad	TPTE and PTEN homologous inositol lipid			20039678		0.303	ENSG00000132958	16181	g.chr13:20039678C>T		endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity							28.216125	KEEP	5	6	-1	17	14	5	6	-1	29.876386	17	14	0.282051	1	0	0	0	0	1	0	0	0	--	--		0	T			TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.R69Q|TPTE2_uc001ume.2_Missense_Mutation_p.R103Q|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA	106	GBM-06-6390-TP	p.R180Q	C	AATAATAAGTCGTAGAAGTCG	NM_199254	NP_954863	20039678	Q6XPS3	TPTE2_HUMAN	0		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	9	750	-	T	T		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	Missense_Mutation	180						
TPTE2	0	broad.mit.edu	GRCh37	13	20039688	20039688	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-76-4934-01	TCGA-76-4934-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400230.2:c.529C>T	p.Arg177Ter	p.R177*	ENST00000400230		177	Cga/Tga	0		A:0	1	A:0		A	R/*	uc001umd.2	protein_coding	YES	CCDS45014.1			529/1569										0	c.(529-531)CGA>TGA			Low_complexity_(Seg):seg,hmmpanther:PTHR12305,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324	TPTE and PTEN homologous inositol lipid		A:0.001		ENSP00000383089	A:0	20-Aug	3.30E-05			0.000244				6.60E-05	rs538397448,COSM2150468,COSM2150467	20-Aug	.		ENST00000400230	Transcript		A:0.0002		endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	ENSG00000132958	g.chr13:20039688G>A	17299			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,13,20039688,G,A&fts=all	R177*	--	--	1																																		TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Nonsense_Mutation_p.R66*|TPTE2_uc001ume.2_Nonsense_Mutation_p.R100*|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA	0,1,1	1			p.R177*	NM_199254	NP_954863	A:0		0,1,1	TPTE2_HUMAN	TPTE2	HGNC	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)			9	740	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	UPI000040738D	177					SNV	TPTE2,stop_gained,p.Arg177Ter,ENST00000400230,;TPTE2,stop_gained,p.Arg177Ter,ENST00000382977,NM_199254.2;TPTE2,stop_gained,p.Arg137Ter,ENST00000382978,;TPTE2,stop_gained,p.Arg137Ter,ENST00000382975,;TPTE2,stop_gained,p.Arg66Ter,ENST00000400103,NM_001141968.1;TPTE2,stop_gained,p.Arg100Ter,ENST00000255310,;TPTE2,stop_gained,p.Arg100Ter,ENST00000390680,NM_130785.3;TPTE2,stop_gained,p.Arg66Ter,ENST00000457266,;TPTE2,stop_gained,p.Arg46Ter,ENST00000462409,;	uc001umd.2	c.529C>T	574/1793	5	2			c.529C>T						13	SNP	c.(529-531)CGA>TGA	47	47				0	Broad	TPTE and PTEN homologous inositol lipid			20039688		0.289	ENSG00000132958	16181	g.chr13:20039688G>A		endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity							43.648585	KEEP	13	7	-1	19	36	13	7	-1	47.683988	19	36	0.246377	1	0	0	0	0	0	1	0	0	--	--		0	A			TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Nonsense_Mutation_p.R66*|TPTE2_uc001ume.2_Nonsense_Mutation_p.R100*|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA	272	GBM-76-4934-TP	p.R177*	G	CGTAGAAGTCGAACTAAATGT	NM_199254	NP_954863	20039688	Q6XPS3	TPTE2_HUMAN	0		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	9	740	-	A	A		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	Nonsense_Mutation	177						
TPX2	22974	broad.mit.edu	GRCh37	20	30371716	30371716	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-5415-01	TCGA-06-5415-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300403.6:c.1405G>T	p.Asp469Tyr	p.D469Y	ENST00000300403	NM_012112.4	469	Gat/Tat	0			1			T	D/Y	uc002wwp.1	protein_coding	YES	CCDS13190.1			1405/2244									large_intestine(1)|ovary(1)	2	c.(1405-1407)GAT>TAT			hmmpanther:PTHR14326,hmmpanther:PTHR14326:SF9,Pfam_domain:PF12214	TPX2, microtubule-associated protein homolog				ENSP00000300403		18-Dec									COSM2153221	18-Dec	.		ENST00000300403	Transcript			activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	ENSG00000088325	g.chr20:30371716G>T	1249			MODERATE		2.08	medium	getma.org/?cm=msa&ty=f&p=TPX2_HUMAN&rb=360&re=542&var=D469Y	NA	getma.org/?cm=var&var=hg19,20,30371716,G,T&fts=all	D469Y	--	--	1																																		TPX2_uc010gdv.1_Missense_Mutation_p.D505Y	1	1		probably_damaging(0.997)	p.D469Y	NM_012112	NP_036244		deleterious(0)	1	TPX2_HUMAN	TPX2	HGNC	Q9ULW0	TPX2_HUMAN	Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)		Q96FC3_HUMAN,Q643R0_HUMAN,B3KM90_HUMAN		12	2103	+			UPI00000015BB	469					SNV	TPX2,missense_variant,p.Asp505Tyr,ENST00000340513,;TPX2,missense_variant,p.Asp469Tyr,ENST00000300403,NM_012112.4;	uc002wwp.1	c.1405G>T	1933/3497	1	1			c.1405G>T						20	SNP	c.(1405-1407)GAT>TAT	8	8			large_intestine(1)|ovary(1)	2	Broad	TPX2, microtubule-associated protein homolog			30371716		0.333	ENSG00000088325	16182	g.chr20:30371716G>T	activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding							93.582654	KEEP	22	20	0.523809524	41	63	22	20	0.523809524	99.226471	41	63	0.283582	1	0	0	0	0	1	0	0	0	--	--		0	T			TPX2_uc010gdv.1_Missense_Mutation_p.D505Y	98	GBM-06-5415-TP	p.D469Y	G	GATTTTGGAAGATGTTGTGGT	NM_012112	NP_036244	30371716	Q9ULW0	TPX2_HUMAN	0	Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)		12	2103	+	T	T			Missense_Mutation	469						
TPX2	22974		GRCh37	20	30347914	30347914	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000300403.6:c.161T>C	p.Leu54Pro	p.L54P	ENST00000300403	NM_012112.4	54	cTt/cCt	0																																																																																																																																																																																																																																												
TRABD2A	129293	broad.mit.edu	GRCh37	2	85051153	85051153	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01	TCGA-06-0744-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335459.5:c.1111C>T	p.Arg371Trp	p.R371W	ENST00000335459	NM_001080824.2	371	Cgg/Tgg	0			1			A	R/W	uc010ysl.1	protein_coding		CCDS62946.1			1258/1518									ovary(1)	1	c.(1258-1260)CGG>TGG			Low_complexity_(Seg):seg,hmmpanther:PTHR31120:SF4,hmmpanther:PTHR31120	hypothetical protein LOC129293 precursor				ENSP00000387075		7-Jun									COSM1409751,COSM1409750	7-Jun	.		ENST00000409520	Transcript				integral to membrane		ENSG00000186854	g.chr2:85051153G>A	27013			MODERATE								--	--	1																																		C2orf89_uc002sou.3_Missense_Mutation_p.R371W	1,1			possibly_damaging(0.724)	p.R420W	NM_001080824	NP_001074293		deleterious(0.04)	1,1	TIKI1_HUMAN	TRABD2A	HGNC	Q86V40	CB089_HUMAN					6	1347	-			UPI000016012F	420			Extracellular (Potential).		SNV	TRABD2A,missense_variant,p.Arg371Trp,ENST00000335459,NM_001080824.2;TRABD2A,missense_variant,p.Arg420Trp,ENST00000409520,NM_001277053.1;DNAH6,downstream_gene_variant,,ENST00000389394,NM_001370.1;DNAH6,downstream_gene_variant,,ENST00000237449,;TRABD2A,non_coding_transcript_exon_variant,,ENST00000479944,;TRABD2A,non_coding_transcript_exon_variant,,ENST00000496500,;	uc010ysl.1	c.1258C>T	1301/1809	1	1			c.1258C>T						2	SNP	c.(1258-1260)CGG>TGG	55	55			ovary(1)	1	Broad	hypothetical protein LOC129293 precursor			85051153		0.667	ENSG00000186854	2159	g.chr2:85051153G>A		integral to membrane								18.447849	KEEP	6	4	-1	7	7	6	4	-1	18.578759	7	7	0.4	1	0	0	0	0	1	0	0	0	--	--		0	A			C2orf89_uc002sou.3_Missense_Mutation_p.R371W	66	GBM-06-0744-TP	p.R420W	G	CGCTTCTTCCGGAACCTCTGT	NM_001080824	NP_001074293	85051153	Q86V40	CB089_HUMAN	0			6	1347	-	A	A			Missense_Mutation	420			Extracellular (Potential).			
TRABD2A	0	broad.mit.edu	GRCh37	2	85051138	85051138	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01	TCGA-27-2519-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409520.2:c.1273C>T	p.Arg425Trp	p.R425W	ENST00000409520	NM_001277053.1	425	Cgg/Tgg	0			1			A	R/W	uc010ysl.1	protein_coding		CCDS62946.1			1273/1518									ovary(1)	1	c.(1273-1275)CGG>TGG			Low_complexity_(Seg):seg,hmmpanther:PTHR31120:SF4,hmmpanther:PTHR31120	hypothetical protein LOC129293 precursor				ENSP00000387075		7-Jun	1.65E-05					3.03E-05			rs202220791,COSM3408012,COSM3408011	7-Jun	.		ENST00000409520	Transcript				integral to membrane		ENSG00000186854	g.chr2:85051138G>A	27013			MODERATE								--	--	1																																		C2orf89_uc002sou.3_Missense_Mutation_p.R376W	0,1,1			benign(0.007)	p.R425W	NM_001080824	NP_001074293		tolerated(0.06)	0,1,1	TIKI1_HUMAN	TRABD2A	HGNC	Q86V40	CB089_HUMAN					6	1362	-			UPI000016012F	425			Extracellular (Potential).		SNV	TRABD2A,missense_variant,p.Arg376Trp,ENST00000335459,NM_001080824.2;TRABD2A,missense_variant,p.Arg425Trp,ENST00000409520,NM_001277053.1;DNAH6,downstream_gene_variant,,ENST00000389394,NM_001370.1;DNAH6,downstream_gene_variant,,ENST00000237449,;TRABD2A,non_coding_transcript_exon_variant,,ENST00000479944,;TRABD2A,non_coding_transcript_exon_variant,,ENST00000496500,;	uc010ysl.1	c.1273C>T	1316/1809	2	2			c.1273C>T						2	SNP	c.(1273-1275)CGG>TGG	36	36			ovary(1)	1	Broad	hypothetical protein LOC129293 precursor			85051138		0.652	ENSG00000186854	2159	g.chr2:85051138G>A		integral to membrane								25.235627	KEEP	5	7	-1	15	12	5	7	-1	26.104049	15	12	0.322581	1	0	0	0	0	1	0	0	0	--	--		0	A			C2orf89_uc002sou.3_Missense_Mutation_p.R376W	199	GBM-27-2519-TP	p.R425W	G	CGCTGTGACCGCCTCCGCTTC	NM_001080824	NP_001074293	85051138	Q86V40	CB089_HUMAN	0			6	1362	-	A	A			Missense_Mutation	425			Extracellular (Potential).			
TRABD2A	129293		GRCh37	2	85051303	85051303	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000335459.5:c.961C>T	p.Arg321Trp	p.R321W	ENST00000335459	NM_001080824.2	321	Cgg/Tgg	0																																																																																																																																																																																																																																												
TRAF2	0	broad.mit.edu	GRCh37	9	139818449	139818449	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5960-01	TCGA-19-5960-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000247668.2:c.1284G>A	p.Gln428=	p.Q428=	ENST00000247668	NM_021138.3	428	caG/caA	0			1			A	Q	uc010nbu.2	protein_coding	YES	CCDS7013.1			1284/1506									ovary(1)|lung(1)|breast(1)|skin(1)	4	c.(1282-1284)CAG>CAA			Gene3D:2.60.210.10,Pfam_domain:PF00917,PIRSF_domain:PIRSF015614,PROSITE_profiles:PS50144,hmmpanther:PTHR10131,hmmpanther:PTHR10131:SF21,SMART_domains:SM00061,Superfamily_domains:SSF49599	TNF receptor-associated factor 2				ENSP00000247668		11-Oct									COSM3413475,COSM3413476	11-Oct	.		ENST00000247668	Transcript			activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000127191	g.chr9:139818449G>A	12032			LOW								--	--	1																																		TRAF2_uc004cjv.2_Silent_p.Q428Q|TRAF2_uc011mek.1_Silent_p.Q417Q|TRAF2_uc010nbw.2_Silent_p.Q403Q	1,1	1			p.Q428Q	NM_021138	NP_066961			1,1	TRAF2_HUMAN	TRAF2	HGNC	Q12933	TRAF2_HUMAN	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)	B1AMY1_HUMAN,B1AMX8_HUMAN,B1AMX7_HUMAN		11	1457	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	UPI0000001612	428			MATH.		SNV	TRAF2,synonymous_variant,p.=,ENST00000359662,;TRAF2,synonymous_variant,p.=,ENST00000247668,NM_021138.3;TRAF2,synonymous_variant,p.=,ENST00000536468,;TRAF2,downstream_gene_variant,,ENST00000482854,;TRAF2,downstream_gene_variant,,ENST00000466107,;	uc010nbu.2	c.1284G>A	1336/2264	2	2			c.1284G>A						9	SNP	c.(1282-1284)CAG>CAA	22	22			ovary(1)|lung(1)|breast(1)|skin(1)	4	Broad	TNF receptor-associated factor 2			139818449		0.647	ENSG00000127191	16188	g.chr9:139818449G>A	activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			212			212	41.84272	KEEP	6	11	-1	9	12	6	11	-1	42.074204	9	12	0.411765	1	0	0	0	0	0	0	1	0	--	--		0	A			TRAF2_uc004cjv.2_Silent_p.Q428Q|TRAF2_uc011mek.1_Silent_p.Q417Q|TRAF2_uc010nbw.2_Silent_p.Q403Q	178	GBM-19-5960-TP	p.Q428Q	G	CCTTCAACCAGAAGGTGAGGC	NM_021138	NP_066961	139818449	Q12933	TRAF2_HUMAN	0	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)	11	1457	+	A	A	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	Silent	428			MATH.			
TRAF3IP2	0	broad.mit.edu	GRCh37	6	111912560	111912560	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-27-1833-01	TCGA-27-1833-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340026.6:c.757T>C	p.Tyr253His	p.Y253H	ENST00000340026		253	Tat/Cat	0			1			G	Y/H	uc011ebc.1	protein_coding					757/1725									ovary(2)|central_nervous_system(1)	3	c.(730-732)TAT>CAT				TRAF3 interacting protein 2 isoform 2				ENSP00000345984		10-Mar									COSM3410535	10-Mar	.		ENST00000340026	Transcript	1		intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		ENSG00000056972	g.chr6:111912560A>G	1343			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=CIKS_HUMAN&rb=6&re=396&var=Y253H	NA	getma.org/?cm=var&var=hg19,6,111912560,A,G&fts=all	Y253H	--	--	1																																		TRAF3IP2_uc003pvg.2_Missense_Mutation_p.Y244H|TRAF3IP2_uc003pvf.2_Missense_Mutation_p.Y244H|TRAF3IP2_uc010kdw.2_Missense_Mutation_p.Y244H|TRAF3IP2_uc010kdx.2_Missense_Mutation_p.Y244H	1			benign(0.033)	p.Y244H	NM_147686	NP_679211		tolerated(0.29)	1	CIKS_HUMAN	TRAF3IP2	HGNC	O43734	CIKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)			3	1345	-		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)	UPI000013DDEF	253					SNV	TRAF3IP2,missense_variant,p.Tyr244His,ENST00000368761,NM_001164281.2,NM_147686.3;TRAF3IP2,missense_variant,p.Tyr253His,ENST00000340026,;TRAF3IP2,missense_variant,p.Tyr244His,ENST00000359831,;TRAF3IP2,5_prime_UTR_variant,,ENST00000392556,;TRAF3IP2-AS1,intron_variant,,ENST00000532353,;TRAF3IP2-AS1,downstream_gene_variant,,ENST00000442928,;TRAF3IP2-AS1,downstream_gene_variant,,ENST00000607066,;TRAF3IP2,non_coding_transcript_exon_variant,,ENST00000532708,;TRAF3IP2,non_coding_transcript_exon_variant,,ENST00000528599,;	uc011ebc.1	c.730T>C	1352/2785	3	3			c.730T>C						6	SNP	c.(730-732)TAT>CAT	64	64			ovary(2)|central_nervous_system(1)	3	Broad	TRAF3 interacting protein 2 isoform 2			111912560		0.572	ENSG00000056972	16191	g.chr6:111912560A>G	intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular								125.720661	KEEP	22	20	-1	39	43	22	20	-1	128.902315	39	43	0.324786	1	0	0	0	0	1	0	0	0	--	--		0	G			TRAF3IP2_uc003pvg.2_Missense_Mutation_p.Y244H|TRAF3IP2_uc003pvf.2_Missense_Mutation_p.Y244H|TRAF3IP2_uc010kdw.2_Missense_Mutation_p.Y244H|TRAF3IP2_uc010kdx.2_Missense_Mutation_p.Y244H	192	GBM-27-1833-TP	p.Y244H	A	CATGCTGGATACCTCTGAGGT	NM_147686	NP_679211	111912560	O43734	CIKS_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)	3	1345	-	G	G		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)	Missense_Mutation	253						
TRAF3IP3	0	broad.mit.edu	GRCh37	1	209954760	209954760	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-19-2620-01	TCGA-19-2620-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367024.1:c.1520A>T	p.His507Leu	p.H507L	ENST00000367024		507	cAc/cTc	0			1			T	H/L	uc001hho.2	protein_coding	YES	CCDS1490.2			1520/1656									large_intestine(1)|ovary(1)	2	c.(1519-1521)CAC>CTC			hmmpanther:PTHR18889,hmmpanther:PTHR18889:SF10,Superfamily_domains:SSF57997	TRAF3-interacting JNK-activating modulator				ENSP00000355991		16/17									COSM3400270	16/17	.		ENST00000367024	Transcript				integral to membrane	protein binding	ENSG00000009790	g.chr1:209954760A>T	30766			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=T3JAM_HUMAN&rb=381&re=550&var=H507L	NA	getma.org/?cm=var&var=hg19,1,209954760,A,T&fts=all	H507L	--	--	1																																		TRAF3IP3_uc001hhn.2_Missense_Mutation_p.H487L|TRAF3IP3_uc009xcr.2_Missense_Mutation_p.H507L	1	1		benign(0.004)	p.H507L	NM_025228	NP_079504		deleterious(0.03)	1	T3JAM_HUMAN	TRAF3IP3	HGNC	Q9Y228	T3JAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.045)	C9JXB3_HUMAN,C9J0C0_HUMAN		16	1810	+			UPI00005190E1	507			Cytoplasmic (Potential).		SNV	TRAF3IP3,missense_variant,p.His507Leu,ENST00000367024,;TRAF3IP3,missense_variant,p.His507Leu,ENST00000367025,NM_025228.2;TRAF3IP3,missense_variant,p.His487Leu,ENST00000367026,;TRAF3IP3,missense_variant,p.His487Leu,ENST00000010338,;TRAF3IP3,intron_variant,,ENST00000477431,;IRF6,downstream_gene_variant,,ENST00000367021,NM_006147.3;TRAF3IP3,downstream_gene_variant,,ENST00000400959,;C1orf74,downstream_gene_variant,,ENST00000294811,NM_152485.2;TRAF3IP3,downstream_gene_variant,,ENST00000367023,NM_001287754.1;TRAF3IP3,downstream_gene_variant,,ENST00000487271,;TRAF3IP3,non_coding_transcript_exon_variant,,ENST00000467830,;TRAF3IP3,intron_variant,,ENST00000480569,;TRAF3IP3,downstream_gene_variant,,ENST00000488702,;TRAF3IP3,3_prime_UTR_variant,,ENST00000471368,;TRAF3IP3,non_coding_transcript_exon_variant,,ENST00000460314,;TRAF3IP3,downstream_gene_variant,,ENST00000476050,;TRAF3IP3,downstream_gene_variant,,ENST00000478359,;TRAF3IP3,downstream_gene_variant,,ENST00000474496,;	uc001hho.2	c.1520A>T	2036/2331	2	2			c.1520A>T						1	SNP	c.(1519-1521)CAC>CTC	34	34			large_intestine(1)|ovary(1)	2	Broad	TRAF3-interacting JNK-activating modulator			209954760		0.512	ENSG00000009790	16192	g.chr1:209954760A>T		integral to membrane	protein binding							31.237292	KEEP	11	6	-1	53	47	11	6	-1	42.694086	53	47	0.156863	1	0	0	0	0	1	0	0	0	--	--		0	T			TRAF3IP3_uc001hhn.2_Missense_Mutation_p.H487L|TRAF3IP3_uc009xcr.2_Missense_Mutation_p.H507L	162	GBM-19-2620-TP	p.H507L	A	AAGCTGCAGCACTGTCGAGAA	NM_025228	NP_079504	209954760	Q9Y228	T3JAM_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.045)	16	1810	+	T	T			Missense_Mutation	507			Cytoplasmic (Potential).			
TRAF6	7189	broad.mit.edu	GRCh37	11	36518817	36518817	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A			TCGA-06-0190-01	TCGA-06-0190-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000526995.1:c.448-1G>T		p.X150_splice	ENST00000526995	NM_004620.3	150		0			1			A		uc001mwr.1	protein_coding		CCDS7901.1			448/1569									ovary(1)	1	c.e5-1				TNF receptor-associated factor 6				ENSP00000337853											COSM3397655		.		ENST00000348124	Transcript	1		activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000175104	g.chr11:36518817C>A	12036			HIGH	7-Apr							--	--	1																																		TRAF6_uc001mws.1_Splice_Site_p.D150_splice	1				p.D150_splice	NM_145803	NP_665802			1	TRAF6_HUMAN	TRAF6	HGNC	Q9Y4K3	TRAF6_HUMAN					5	788	-	all_lung(20;0.211)	all_hematologic(20;0.107)	UPI000000D924						SNV	TRAF6,splice_acceptor_variant,,ENST00000526995,NM_004620.3;TRAF6,splice_acceptor_variant,,ENST00000348124,NM_145803.2;TRAF6,upstream_gene_variant,,ENST00000529150,;	uc001mwr.1	c.448_splice	-/2558	5	2			c.448_splice						11	SNP	c.e5-1	26	26			ovary(1)	1	Broad	TNF receptor-associated factor 6			36518817		0.363	ENSG00000175104	16195	g.chr11:36518817C>A	activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			148			148	-15.79303	KEEP	2	2	0.5	45	60	2	2	0.5	6.747264	45	60	0.040404	1	0	0	0	0	0	0	0	1	--	--		0	A			TRAF6_uc001mws.1_Splice_Site_p.D150_splice	43	GBM-06-0190-TP	p.D150_splice	C	CTTGATGATCCTATAATTAAA	NM_145803	NP_665802	36518817	Q9Y4K3	TRAF6_HUMAN	0			5	788	-	A	A	all_lung(20;0.211)	all_hematologic(20;0.107)	Splice_Site							
TRAIP	0	broad.mit.edu	GRCh37	3	49869443	49869443	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-28-5211-01	TCGA-28-5211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331456.2:c.943G>T	p.Asp315Tyr	p.D315Y	ENST00000331456	NM_005879.2	315	Gat/Tat	0			1			A	D/Y	uc003cxs.1	protein_coding	YES	CCDS2806.1			943/1410									lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6	c.(943-945)GAT>TAT			hmmpanther:PTHR22937,hmmpanther:PTHR22937:SF6	TRAF interacting protein				ENSP00000328203		15-Nov									COSM3408752	15-Nov	.		ENST00000331456	Transcript			cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding	ENSG00000183763	g.chr3:49869443C>A	30764			MODERATE		2.005	medium	getma.org/?cm=msa&ty=f&p=TRAIP_HUMAN&rb=81&re=468&var=D315Y	NA	getma.org/?cm=var&var=hg19,3,49869443,C,A&fts=all	D315Y	--	--	1																																		TRAIP_uc010hla.1_Missense_Mutation_p.D216Y	1	1		probably_damaging(0.954)	p.D315Y	NM_005879	NP_005870		deleterious(0)	1	TRAIP_HUMAN	TRAIP	HGNC	Q9BWF2	TRAIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	A4UCT7_HUMAN		11	1049	-			UPI000006FE67	315			Interaction with CYLD.		SNV	TRAIP,missense_variant,p.Asp315Tyr,ENST00000331456,NM_005879.2;TRAIP,missense_variant,p.Asp160Tyr,ENST00000469027,;TRAIP,non_coding_transcript_exon_variant,,ENST00000475495,;TRAIP,intron_variant,,ENST00000473195,;TRAIP,upstream_gene_variant,,ENST00000491060,;	uc003cxs.1	c.943G>T	1057/2026	2	2			c.943G>T						3	SNP	c.(943-945)GAT>TAT	43	43			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6	Broad	TRAF interacting protein			49869443		0.542	ENSG00000183763	16198	g.chr3:49869443C>A	cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding							33.840528	KEEP	11	12	0.52173913	35	53	11	12	0.52173913	40.189455	35	53	0.234694	1	0	0	0	0	1	0	0	0	--	--		0	A			TRAIP_uc010hla.1_Missense_Mutation_p.D216Y	219	GBM-28-5211-TP	p.D315Y	C	GCATTGAGATCAATATCATCA	NM_005879	NP_005870	49869443	Q9BWF2	TRAIP_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	11	1049	-	A	A			Missense_Mutation	315			Interaction with CYLD.			
TRAK1	0	broad.mit.edu	GRCh37	3	42242442	42242442	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5960-01	TCGA-19-5960-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327628.5:c.1323C>T	p.Cys441=	p.C441=	ENST00000327628	NM_001042646.2	441	tgC/tgT	0	T:0		1			T	C	uc003cky.2	protein_coding	YES	CCDS43072.1			1323/2862									ovary(1)	1	c.(1321-1323)TGC>TGT			Pfam_domain:PF12448,hmmpanther:PTHR15751,hmmpanther:PTHR15751:SF11	OGT(O-Glc-NAc transferase)-interacting protein			T:0.0001	ENSP00000328998		16-Dec	3.29E-05		8.64E-05			4.50E-05			rs368017667,COSM3408666,COSM3408667,COSM3408668	16-Dec	.		ENST00000327628	Transcript			endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		ENSG00000182606	g.chr3:42242442C>T	29947			LOW								--	--	1																																		TRAK1_uc011azh.1_Silent_p.C441C|TRAK1_uc011azi.1_Silent_p.C441C|TRAK1_uc003ckz.3_Silent_p.C367C|TRAK1_uc011azj.1_Silent_p.C367C|TRAK1_uc003cla.2_Silent_p.C383C	0,1,1,1	1			p.C441C	NM_001042646	NP_001036111			0,1,1,1	TRAK1_HUMAN	TRAK1	HGNC	Q9UPV9	TRAK1_HUMAN					12	1539	+			UPI0000139F52	441			Interaction with HGS.		SNV	TRAK1,synonymous_variant,p.=,ENST00000327628,NM_001042646.2;TRAK1,synonymous_variant,p.=,ENST00000396175,;TRAK1,synonymous_variant,p.=,ENST00000341421,NM_014965.4,NM_001265608.1;TRAK1,synonymous_variant,p.=,ENST00000449246,NM_001265610.1,NM_001265609.1;TRAK1,synonymous_variant,p.=,ENST00000427771,;TRAK1,non_coding_transcript_exon_variant,,ENST00000487159,;TRAK1,non_coding_transcript_exon_variant,,ENST00000484786,;	uc003cky.2	c.1323C>T	1723/5293	2	2			c.1323C>T						3	SNP	c.(1321-1323)TGC>TGT	30	30			ovary(1)	1	Broad	OGT(O-Glc-NAc transferase)-interacting protein			42242442		0.582	ENSG00000182606	16199	g.chr3:42242442C>T	endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		GBM(44;195 884 22595 31865 41850)			GBM(44;195 884 22595 31865 41850)			170.653567	KEEP	29	37	-1	37	46	29	37	-1	171.022368	37	46	0.442748	1	0	0	0	0	0	0	1	0	--	--		0	T			TRAK1_uc011azh.1_Silent_p.C441C|TRAK1_uc011azi.1_Silent_p.C441C|TRAK1_uc003ckz.3_Silent_p.C367C|TRAK1_uc011azj.1_Silent_p.C367C|TRAK1_uc003cla.2_Silent_p.C383C	178	GBM-19-5960-TP	p.C441C	C	TGTCCAGCTGCGTCAGCACCC	NM_001042646	NP_001036111	42242442	Q9UPV9	TRAK1_HUMAN	0			12	1539	+	T	T			Silent	441			Interaction with HGS.			
TRAK1	0	broad.mit.edu	GRCh37	3	42242538	42242538	+	synonymous_variant	Silent	SNP	C	C	T	rs143049389	byFrequency	TCGA-28-2513-01	TCGA-28-2513-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327628.5:c.1419C>T	p.Ala473=	p.A473=	ENST00000327628	NM_001042646.2	473	gcC/gcT	0	T:0.0009	T:0.0008	1	T:0.0014		T	A	uc003cky.2	protein_coding	YES	CCDS43072.1			1419/2862									ovary(1)	1	c.(1417-1419)GCC>GCT			Pfam_domain:PF12448,hmmpanther:PTHR15751,hmmpanther:PTHR15751:SF11	OGT(O-Glc-NAc transferase)-interacting protein		T:0	T:0.006	ENSP00000328998	T:0.004	16-Dec	0.0046	0.0015	0.00182	0.000116	0.00424	0.00616	0.00331	0.00503	rs143049389,COSM3748240,COSM3748241,COSM3748242	16-Dec	common_variant		ENST00000327628	Transcript		T:0.0018	endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		ENSG00000182606	g.chr3:42242538C>T	29947			LOW								--	--	1																																		TRAK1_uc011azh.1_Silent_p.A473A|TRAK1_uc011azi.1_Silent_p.A473A|TRAK1_uc003ckz.3_Silent_p.A399A|TRAK1_uc011azj.1_Silent_p.A399A|TRAK1_uc003cla.2_Silent_p.A415A	0,1,1,1	1			p.A473A	NM_001042646	NP_001036111	T:0.0031		0,1,1,1	TRAK1_HUMAN	TRAK1	HGNC	Q9UPV9	TRAK1_HUMAN					12	1635	+			UPI0000139F52	473			Interaction with HGS.		SNV	TRAK1,synonymous_variant,p.=,ENST00000327628,NM_001042646.2;TRAK1,synonymous_variant,p.=,ENST00000396175,;TRAK1,synonymous_variant,p.=,ENST00000341421,NM_014965.4,NM_001265608.1;TRAK1,synonymous_variant,p.=,ENST00000449246,NM_001265610.1,NM_001265609.1;TRAK1,synonymous_variant,p.=,ENST00000427771,;TRAK1,non_coding_transcript_exon_variant,,ENST00000487159,;TRAK1,non_coding_transcript_exon_variant,,ENST00000484786,;	uc003cky.2	c.1419C>T	1819/5293	2	2			c.1419C>T						3	SNP	c.(1417-1419)GCC>GCT	21	21			ovary(1)	1	Broad	OGT(O-Glc-NAc transferase)-interacting protein			42242538		0.542	ENSG00000182606	16199	g.chr3:42242538C>T	endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		GBM(44;195 884 22595 31865 41850)			GBM(44;195 884 22595 31865 41850)			16.33913	KEEP	6	7	-1	55	42	6	7	-1	30.008803	55	42	0.122449	1	0	0	0	0	0	0	1	0	--	--		0	T			TRAK1_uc011azh.1_Silent_p.A473A|TRAK1_uc011azi.1_Silent_p.A473A|TRAK1_uc003ckz.3_Silent_p.A399A|TRAK1_uc011azj.1_Silent_p.A399A|TRAK1_uc003cla.2_Silent_p.A415A	213	GBM-28-2513-TP	p.A473A	C	CAGAGGCAGCCGACCTGGGGT	NM_001042646	NP_001036111	42242538	Q9UPV9	TRAK1_HUMAN	0			12	1635	+	T	T			Silent	473			Interaction with HGS.			
TRAK1	0	broad.mit.edu	GRCh37	3	42261046	42261046	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327628.5:c.2024G>A	p.Arg675His	p.R675H	ENST00000327628	NM_001042646.2	675	cGc/cAc	0			1			A	R/H	uc003cky.2	protein_coding	YES	CCDS43072.1			2024/2862									ovary(1)	1	c.(2023-2025)CGC>CAC			hmmpanther:PTHR15751,hmmpanther:PTHR15751:SF11	OGT(O-Glc-NAc transferase)-interacting protein				ENSP00000328998		15/16									COSM3408669,COSM3408670	15/16	.		ENST00000327628	Transcript			endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		ENSG00000182606	g.chr3:42261046G>A	29947			MODERATE		1.975	medium	getma.org/?cm=msa&ty=f&p=TRAK1_HUMAN&rb=584&re=682&var=R675H	NA	getma.org/?cm=var&var=hg19,3,42261046,G,A&fts=all	R675H	--	--	1																																		TRAK1_uc011azi.1_Missense_Mutation_p.R654H	1,1	1		probably_damaging(0.996)	p.R675H	NM_001042646	NP_001036111		deleterious(0.04)	1,1	TRAK1_HUMAN	TRAK1	HGNC	Q9UPV9	TRAK1_HUMAN					15	2240	+			UPI0000139F52	675					SNV	TRAK1,missense_variant,p.Arg675His,ENST00000327628,NM_001042646.2;TRAK1,missense_variant,p.Arg617His,ENST00000396175,;RNU4-78P,upstream_gene_variant,,ENST00000410940,;TRAK1,non_coding_transcript_exon_variant,,ENST00000487159,;	uc003cky.2	c.2024G>A	2424/5293	2	2			c.2024G>A						3	SNP	c.(2023-2025)CGC>CAC	47	47			ovary(1)	1	Broad	OGT(O-Glc-NAc transferase)-interacting protein			42261046		0.552	ENSG00000182606	16199	g.chr3:42261046G>A	endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		GBM(44;195 884 22595 31865 41850)			GBM(44;195 884 22595 31865 41850)			-84.857222	KEEP	4	9	-1	252	215	4	9	-1	16.896915	252	215	0.026764	1	0	0	0	0	1	0	0	0	--	--		0	A			TRAK1_uc011azi.1_Missense_Mutation_p.R654H	249	GBM-32-5222-TP	p.R675H	G	ACCACCTGTCGCATCCTGCAT	NM_001042646	NP_001036111	42261046	Q9UPV9	TRAK1_HUMAN	0			15	2240	+	A	A			Missense_Mutation	675						
TRAK1	0	broad.mit.edu	GRCh37	3	42167078	42167078	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6191-01	TCGA-76-6191-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327628.5:c.258G>A	p.Glu86=	p.E86=	ENST00000327628	NM_001042646.2	86	gaG/gaA	0			1			A	E	uc003cky.2	protein_coding	YES	CCDS43072.1			258/2862									ovary(1)	1	c.(256-258)GAG>GAA			Pfam_domain:PF04849,hmmpanther:PTHR15751,hmmpanther:PTHR15751:SF11	OGT(O-Glc-NAc transferase)-interacting protein				ENSP00000328998		16-Feb										16-Feb	.		ENST00000327628	Transcript			endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		ENSG00000182606	g.chr3:42167078G>A	29947			LOW								--	--	1																																		TRAK1_uc011azh.1_Silent_p.E86E|TRAK1_uc011azi.1_Silent_p.E86E		1			p.E86E	NM_001042646	NP_001036111				TRAK1_HUMAN	TRAK1	HGNC	Q9UPV9	TRAK1_HUMAN					2	474	+			UPI0000139F52	86			HAP1 N-terminal.		SNV	TRAK1,synonymous_variant,p.=,ENST00000327628,NM_001042646.2;TRAK1,non_coding_transcript_exon_variant,,ENST00000487159,;TRAK1,non_coding_transcript_exon_variant,,ENST00000484786,;	uc003cky.2	c.258G>A	658/5293	1	1			c.258G>A						3	SNP	c.(256-258)GAG>GAA	60	60			ovary(1)	1	Broad	OGT(O-Glc-NAc transferase)-interacting protein			42167078		0.443	ENSG00000182606	16199	g.chr3:42167078G>A	endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		GBM(44;195 884 22595 31865 41850)			GBM(44;195 884 22595 31865 41850)			124.653571	KEEP	17	30	-1	20	38	17	30	-1	124.938234	20	38	0.44086	1	0	0	0	0	0	0	1	0	--	--		0	A			TRAK1_uc011azh.1_Silent_p.E86E|TRAK1_uc011azi.1_Silent_p.E86E	274	GBM-76-6191-TP	p.E86E	G	TCACAACCGAGCAAATTGAAG	NM_001042646	NP_001036111	42167078	Q9UPV9	TRAK1_HUMAN	0			2	474	+	A	A			Silent	86			HAP1 N-terminal.			
TRAK2	66008	broad.mit.edu	GRCh37	2	202252532	202252532	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5408-01	TCGA-06-5408-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332624.3:c.1590C>T	p.Ser530=	p.S530=	ENST00000332624	NM_015049.2	530	agC/agT	0			1			A	S	uc002uyb.3	protein_coding	YES	CCDS2347.1			1590/2745										0	c.(1588-1590)AGC>AGT			Pfam_domain:PF12448,hmmpanther:PTHR15751,hmmpanther:PTHR15751:SF13	trafficking protein, kinesin binding 2				ENSP00000328875		13/16									COSM3407479	13/16	.		ENST00000332624	Transcript				early endosome|plasma membrane	GABA receptor binding	ENSG00000115993	g.chr2:202252532G>A	13206			LOW								--	--	1																																			1	1			p.S530S	NM_015049	NP_055864			1	TRAK2_HUMAN	TRAK2	HGNC	O60296	TRAK2_HUMAN			Q53TT7_HUMAN,Q53RS6_HUMAN		13	2036	-			UPI0000125022	530	Missing (in Ref. 2).				SNV	TRAK2,synonymous_variant,p.=,ENST00000332624,NM_015049.2;STRADB,upstream_gene_variant,,ENST00000458269,;	uc002uyb.3	c.1590C>T	2019/6510	1	1			c.1590C>T						2	SNP	c.(1588-1590)AGC>AGT	52	52				0	Broad	trafficking protein, kinesin binding 2			202252532		0.512	ENSG00000115993	16200	g.chr2:202252532G>A		early endosome|plasma membrane	GABA receptor binding							-21.225369	KEEP	3	3	-1	63	87	3	3	-1	11.525694	63	87	0.041379	1	0	0	0	0	0	0	1	0	--	--		0	A				92	GBM-06-5408-TP	p.S530S	G	GAGAGGCAAGGCTCTCTGTCG	NM_015049	NP_055864	202252532	O60296	TRAK2_HUMAN	0			13	2036	-	A	A			Silent	530	Missing (in Ref. 2).					
TRAK2	0	broad.mit.edu	GRCh37	2	202250994	202250994	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-32-2494-01	TCGA-32-2494-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332624.3:c.1910C>A	p.Pro637Gln	p.P637Q	ENST00000332624	NM_015049.2	637	cCa/cAa	0			1			T	P/Q	uc002uyb.3	protein_coding	YES	CCDS2347.1			1910/2745										0	c.(1909-1911)CCA>CAA			hmmpanther:PTHR15751,hmmpanther:PTHR15751:SF13	trafficking protein, kinesin binding 2				ENSP00000328875		14/16									COSM719788	14/16	.		ENST00000332624	Transcript				early endosome|plasma membrane	GABA receptor binding	ENSG00000115993	g.chr2:202250994G>T	13206			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=TRAK2_HUMAN&rb=568&re=684&var=P637Q	NA	getma.org/?cm=var&var=hg19,2,202250994,G,T&fts=all	P637Q	--	--	1																																			1	1		benign(0.022)	p.P637Q	NM_015049	NP_055864		deleterious(0.02)	1	TRAK2_HUMAN	TRAK2	HGNC	O60296	TRAK2_HUMAN			Q53TT7_HUMAN,Q53RS6_HUMAN		14	2356	-			UPI0000125022	637	Missing (in Ref. 2).				SNV	TRAK2,missense_variant,p.Pro637Gln,ENST00000332624,NM_015049.2;STRADB,upstream_gene_variant,,ENST00000458269,;	uc002uyb.3	c.1910C>A	2339/6510	2	2			c.1910C>A						2	SNP	c.(1909-1911)CCA>CAA	22	22				0	Broad	trafficking protein, kinesin binding 2			202250994		0.418	ENSG00000115993	16200	g.chr2:202250994G>T		early endosome|plasma membrane	GABA receptor binding							-24.984384	KEEP	1	2	0.333333333	69	104	1	2	0.333333333	6.779197	69	104	0.02381	1	0	0	0	0	1	0	0	0	--	--		0	T				236	GBM-32-2494-TP	p.P637Q	G	CCCTGTTACTGGCTTGGATGT	NM_015049	NP_055864	202250994	O60296	TRAK2_HUMAN	0			14	2356	-	T	T			Missense_Mutation	637	Missing (in Ref. 2).					
TRAK2	66008		GRCh37	2	202272228	202272229	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	-			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000332624.3:c.183_184del	p.Phe62SerfsTer3	p.F62Sfs*3	ENST00000332624	NM_015049.2	61	ctCTtt/cttt	0																																																																																																																																																																																																																																												
TRAM1	0	broad.mit.edu	GRCh37	8	71510232	71510256	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	TCGCCTGTTAATTTTCTAAAAATAA	TCGCCTGTTAATTTTCTAAAAATAA	-			TCGA-28-5220-01	TCGA-28-5220-01	TCGCCTGTTAATTTTCTAAAAATAA	TCGCCTGTTAATTTTCTAAAAATAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262213.2:c.310-10_324delTTATTTTTAGAAAATTAACAGGCGA		p.X104_splice	ENST00000262213	NM_014294.5			0			1			-		uc003xyo.1	protein_coding	YES	CCDS6207.1			?-324/1125									ovary(1)	1	c.e4-1				translocation associated membrane protein 1				ENSP00000262213		11-Apr										11-Apr	.		ENST00000262213	Transcript			cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	ENSG00000067167	g.chr8:71510232_71510256delTCGCCTGTTAATTTTCTAAAAATAA	20568			HIGH	10-Mar							--	--	1																																		TRAM1_uc011lfc.1_Splice_Site_p.K73_splice		1			p.K104_splice	NM_014294	NP_055109				TRAM1_HUMAN	TRAM1	HGNC	Q15629	TRAM1_HUMAN	Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)		G3XAN4_HUMAN,Q6FHL3_HUMAN,B4E0K2_HUMAN		4	480	-			UPI0000001C66						deletion	TRAM1,splice_acceptor_variant,,ENST00000521425,;TRAM1,splice_acceptor_variant,,ENST00000262213,NM_014294.5;TRAM1,splice_acceptor_variant,,ENST00000536748,;TRAM1,splice_acceptor_variant,,ENST00000518678,;TRAM1,splice_acceptor_variant,,ENST00000521049,;TRAM1,splice_acceptor_variant,,ENST00000520700,;	uc003xyo.1	c.310_splice	?-494/2785	5	5			c.310_splice						8	DEL	c.e4-1	1	1			ovary(1)	1	Broad	translocation associated membrane protein 1			71510256		0.302	ENSG00000067167	16201	g.chr8:71510232_71510256delTCGCCTGTTAATTTTCTAAAAATAA	cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	Ovarian(85;984 1334 5116 12432 40638)			Ovarian(85;984 1334 5116 12432 40638)																0.17	1	1	0	1	0	0	0	0	1	--	--		0	-			TRAM1_uc011lfc.1_Splice_Site_p.K73_splice	226	GBM-28-5220-TP	p.K104_splice	TCGCCTGTTAATTTTCTAAAAATAA	AGAAGTGCATTCGCCTGTTAATTTTCTAAAAATAAAAACAGCCAT	NM_014294	NP_055109	71510232	Q15629	TRAM1_HUMAN	0	Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)		4	480	-	-	-			Splice_Site							
TRAM1L1	0	broad.mit.edu	GRCh37	4	118005603	118005603	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-5950-01	TCGA-19-5950-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310754.4:c.947T>C	p.Ile316Thr	p.I316T	ENST00000310754	NM_152402.2	316	aTt/aCt	0			1			G	I/T	uc003ibv.3	protein_coding	YES	CCDS3707.1			947/1110									central_nervous_system(1)	1	c.(946-948)ATT>ACT			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50922,hmmpanther:PTHR12371:SF9,hmmpanther:PTHR12371,PIRSF_domain:PIRSF005449,SMART_domains:SM00724	translocation associated membrane protein 1-like				ENSP00000309402		1-Jan									COSM2156550	1-Jan	.		ENST00000310754	Transcript			protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		ENSG00000174599	g.chr4:118005603A>G	28371			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=TR1L1_HUMAN&rb=118&re=322&var=I316T	NA	getma.org/?cm=var&var=hg19,4,118005603,A,G&fts=all	I316T	--	--	1																																			1	1		benign(0.113)	p.I316T	NM_152402	NP_689615		deleterious(0.04)	1	TR1L1_HUMAN	TRAM1L1	HGNC	Q8N609	TR1L1_HUMAN					1	1134	-			UPI000013F075	316			Helical; (Potential).|TLC.		SNV	TRAM1L1,missense_variant,p.Ile316Thr,ENST00000310754,NM_152402.2;	uc003ibv.3	c.947T>C	1134/2019	3	3			c.947T>C						4	SNP	c.(946-948)ATT>ACT	2	2			central_nervous_system(1)	1	Broad	translocation associated membrane protein 1-like			118005603		0.408	ENSG00000174599	16202	g.chr4:118005603A>G	protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane								228.830883	KEEP	30	46	-1	58	74	30	46	-1	231.751734	58	74	0.367021	1	0	0	0	0	1	0	0	0	--	--		0	G				170	GBM-19-5950-TP	p.I316T	A	CCAGAGAGTAATTAAGTTCCA	NM_152402	NP_689615	118005603	Q8N609	TR1L1_HUMAN	0			1	1134	-	G	G			Missense_Mutation	316			Helical; (Potential).|TLC.			
TRAM1L1	0	broad.mit.edu	GRCh37	4	118005491	118005491	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-32-1979-01	TCGA-32-1979-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310754.4:c.1059A>C	p.Glu353Asp	p.E353D	ENST00000310754	NM_152402.2	353	gaA/gaC	0			1			G	E/D	uc003ibv.3	protein_coding	YES	CCDS3707.1			1059/1110									central_nervous_system(1)	1	c.(1057-1059)GAA>GAC			hmmpanther:PTHR12371:SF9,hmmpanther:PTHR12371,PIRSF_domain:PIRSF005449	translocation associated membrane protein 1-like				ENSP00000309402		1-Jan									COSM3409021	1-Jan	.		ENST00000310754	Transcript			protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		ENSG00000174599	g.chr4:118005491T>G	28371			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TR1L1_HUMAN&rb=323&re=369&var=E353D	NA	getma.org/?cm=var&var=hg19,4,118005491,T,G&fts=all	E353D	--	--	1																																			1	1		benign(0.002)	p.E353D	NM_152402	NP_689615		tolerated(0.6)	1	TR1L1_HUMAN	TRAM1L1	HGNC	Q8N609	TR1L1_HUMAN					1	1246	-			UPI000013F075	353			Cytoplasmic (Potential).		SNV	TRAM1L1,missense_variant,p.Glu353Asp,ENST00000310754,NM_152402.2;	uc003ibv.3	c.1059A>C	1246/2019	3	3			c.1059A>C						4	SNP	c.(1057-1059)GAA>GAC	5	5			central_nervous_system(1)	1	Broad	translocation associated membrane protein 1-like			118005491		0.393	ENSG00000174599	16202	g.chr4:118005491T>G	protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane								198.23567	KEEP	30	34	-1	56	75	30	34	-1	202.480416	56	75	0.337017	1	0	0	0	0	1	0	0	0	--	--		0	G				230	GBM-32-1979-TP	p.E353D	T	TATTTGAAGTTTCCACTCCCA	NM_152402	NP_689615	118005491	Q8N609	TR1L1_HUMAN	0			1	1246	-	G	G			Missense_Mutation	353			Cytoplasmic (Potential).			
TRANK1	0	broad.mit.edu	GRCh37	3	36874402	36874402	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000429976.2:c.6540G>A	p.Ser2180=	p.S2180=	ENST00000429976		2180	tcG/tcA	0			1			T	S	uc003cgj.2	protein_coding	YES	CCDS46789.2			6540/8778									ovary(1)|central_nervous_system(1)	2	c.(4888-4890)TCG>TCA			hmmpanther:PTHR21529:SF5,hmmpanther:PTHR21529	lupus brain antigen 1				ENSP00000416168		21/23									COSM3408611,COSM3408610,COSM3408609	21/23	.		ENST00000429976	Transcript			DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	ENSG00000168016	g.chr3:36874402C>T	29011			LOW								--	--	1																																			1,1,1	1			p.S1630S	NM_014831	NP_055646			1,1,1	TRNK1_HUMAN	TRANK1	HGNC	O15050	TRNK1_HUMAN			B7WP88_HUMAN		12	5192	-			UPI00017BE82B	2180					SNV	TRANK1,synonymous_variant,p.=,ENST00000429976,;TRANK1,synonymous_variant,p.=,ENST00000301807,NM_014831.2;TRANK1,synonymous_variant,p.=,ENST00000428977,;	uc003cgj.2	c.4890G>A	6788/10481	2	2			c.4890G>A						3	SNP	c.(4888-4890)TCG>TCA	28	28			ovary(1)|central_nervous_system(1)	2	Broad	lupus brain antigen 1			36874402		0.378	ENSG00000168016	16204	g.chr3:36874402C>T	DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding							89.296318	KEEP	14	19	-1	21	11	14	19	-1	89.310285	21	11	0.516129	1	0	0	0	0	0	0	1	0	--	--		0	T				131	GBM-12-5301-TP	p.S1630S	C	AGTTCATTTTCGACTGAACTA	NM_014831	NP_055646	36874402	O15050	TRNK1_HUMAN	0			12	5192	-	T	T			Silent	2180						
TRANK1	0	broad.mit.edu	GRCh37	3	36898731	36898731	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01	TCGA-76-4928-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000429976.2:c.2350G>A	p.Asp784Asn	p.D784N	ENST00000429976		784	Gac/Aac	0			1			T	D/N	uc003cgj.2	protein_coding	YES	CCDS46789.2			2350/8778									ovary(1)|central_nervous_system(1)	2	c.(700-702)GAC>AAC			hmmpanther:PTHR21529:SF5,hmmpanther:PTHR21529	lupus brain antigen 1				ENSP00000416168		23-Dec									COSM3408614,COSM3408613,COSM3408612	23-Dec	.		ENST00000429976	Transcript			DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	ENSG00000168016	g.chr3:36898731C>T	29011			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=TRNK1_HUMAN&rb=601&re=800&var=D784N	NA	getma.org/?cm=var&var=hg19,3,36898731,C,T&fts=all	D784N	--	--	1																																			1,1,1	1		possibly_damaging(0.77)	p.D234N	NM_014831	NP_055646		deleterious(0)	1,1,1	TRNK1_HUMAN	TRANK1	HGNC	O15050	TRNK1_HUMAN			B7WP88_HUMAN		3	1002	-			UPI00017BE82B	784					SNV	TRANK1,missense_variant,p.Asp234Asn,ENST00000301807,NM_014831.2;TRANK1,missense_variant,p.Asp784Asn,ENST00000429976,;TRANK1,missense_variant,p.Asp234Asn,ENST00000428977,;TRANK1,downstream_gene_variant,,ENST00000513141,;	uc003cgj.2	c.700G>A	2598/10481	2	2			c.700G>A						3	SNP	c.(700-702)GAC>AAC	29	29			ovary(1)|central_nervous_system(1)	2	Broad	lupus brain antigen 1			36898731		0.502	ENSG00000168016	16204	g.chr3:36898731C>T	DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding							323.534597	KEEP	67	82	-1	238	225	67	82	-1	354.589696	238	225	0.249077	1	0	0	0	0	1	0	0	0	--	--		0	T				268	GBM-76-4928-TP	p.D234N	C	TTATCGAAGTCCTGGAGGCAG	NM_014831	NP_055646	36898731	O15050	TRNK1_HUMAN	0			3	1002	-	T	T			Missense_Mutation	784						
TRAPPC10	7109	broad.mit.edu	GRCh37	21	45472274	45472275	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	rs149217788	byFrequency	TCGA-06-0185-01	TCGA-06-0185-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000291574.4:c.407dup	p.Asn136LysfsTer18	p.N136Kfs*18	ENST00000291574	NM_003274.4	133	-/A	0			1			A	-/X	uc002zea.2	protein_coding	YES	CCDS13704.1			399-400/3780									ovary(1)|skin(1)	2	c.(397-402)AAGAAAfs			hmmpanther:PTHR13251	trafficking protein particle complex 10				ENSP00000291574		23-Apr										23-Apr	.		ENST00000291574	Transcript			vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	ENSG00000160218	g.chr21:45472274_45472275insA	11868	8		HIGH								--	--	1																																		TRAPPC10_uc010gpo.2_5'UTR|TRAPPC10_uc002zdz.2_Frame_Shift_Ins_p.K133fs		1			p.K133fs	NM_003274	NP_003265				TPC10_HUMAN	TRAPPC10	HGNC	P48553	TPC10_HUMAN			Q76NH5_HUMAN		4	568_569	+			UPI0000129E26	133_134					insertion	TRAPPC10,frameshift_variant,p.Asn136LysfsTer18,ENST00000291574,NM_003274.4;TRAPPC10,frameshift_variant,p.Asn136LysfsTer18,ENST00000380221,;TRAPPC10,frameshift_variant,p.Asn136LysfsTer18,ENST00000422875,;	uc002zea.2	c.399_400insA	574-575/6976	5	5			c.399_400insA						21	INS	c.(397-402)AAGAAAfs	11	11			ovary(1)|skin(1)	2	Broad	trafficking protein particle complex 10			45472275		0.356	ENSG00000160218	16207	g.chr21:45472274_45472275insA	vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity																				0.04	1	0	0	1	1	0	0	0	0	--	--		0	A			TRAPPC10_uc010gpo.2_5'UTR|TRAPPC10_uc002zdz.2_Frame_Shift_Ins_p.K133fs	40	GBM-06-0185-TP	p.K133fs	-	ATGATGCCAAGAAAAAAAACAA	NM_003274	NP_003265	45472274	P48553	TPC10_HUMAN	0			4	568_569	+	A	A			Frame_Shift_Ins	133_134						
TRAPPC10	0	broad.mit.edu	GRCh37	21	45472274	45472275	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	rs149217788	byFrequency	TCGA-27-1837-01	TCGA-27-1837-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000291574.4:c.407dupA	p.Asn136LysfsTer18	p.N136Kfs*18	ENST00000291574	NM_003274.4	133	-/A	0			1			A	-/X	uc002zea.2	protein_coding	YES	CCDS13704.1			399-400/3780									ovary(1)|skin(1)	2	c.(397-402)AAGAAAfs			hmmpanther:PTHR13251	trafficking protein particle complex 10				ENSP00000291574		23-Apr										23-Apr	.		ENST00000291574	Transcript			vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	ENSG00000160218	g.chr21:45472274_45472275insA	11868	8		HIGH								--	--	1																																		TRAPPC10_uc010gpo.2_5'UTR|TRAPPC10_uc002zdz.2_Frame_Shift_Ins_p.K133fs		1			p.K133fs	NM_003274	NP_003265				TPC10_HUMAN	TRAPPC10	HGNC	P48553	TPC10_HUMAN			Q76NH5_HUMAN		4	568_569	+			UPI0000129E26	133_134					insertion	TRAPPC10,frameshift_variant,p.Asn136LysfsTer18,ENST00000291574,NM_003274.4;TRAPPC10,frameshift_variant,p.Asn136LysfsTer18,ENST00000380221,;TRAPPC10,frameshift_variant,p.Asn136LysfsTer18,ENST00000422875,;	uc002zea.2	c.399_400insA	574-575/6976	5	5			c.399_400insA						21	INS	c.(397-402)AAGAAAfs	11	11			ovary(1)|skin(1)	2	Broad	trafficking protein particle complex 10			45472275		0.356	ENSG00000160218	16207	g.chr21:45472274_45472275insA	vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity																				0.03	1	0	0	1	1	0	0	0	0	--	--		0	A			TRAPPC10_uc010gpo.2_5'UTR|TRAPPC10_uc002zdz.2_Frame_Shift_Ins_p.K133fs	196	GBM-27-1837-TP	p.K133fs	-	ATGATGCCAAGAAAAAAAACAA	NM_003274	NP_003265	45472274	P48553	TPC10_HUMAN	0			4	568_569	+	A	A			Frame_Shift_Ins	133_134						
TRAPPC10	0	broad.mit.edu	GRCh37	21	45503036	45503036	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-32-4213-01	TCGA-32-4213-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000291574.4:c.2091A>G	p.Arg697=	p.R697=	ENST00000291574	NM_003274.4	697	agA/agG	0			1			G	R	uc002zea.2	protein_coding	YES	CCDS13704.1			2091/3780									ovary(1)|skin(1)	2	c.(2089-2091)AGA>AGG			hmmpanther:PTHR13251	trafficking protein particle complex 10				ENSP00000291574		14/23									COSM3405434	14/23	.		ENST00000291574	Transcript			vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	ENSG00000160218	g.chr21:45503036A>G	11868			LOW								--	--	1																																		TRAPPC10_uc010gpo.2_Silent_p.R408R|TRAPPC10_uc011afa.1_Silent_p.R116R	1	1			p.R697R	NM_003274	NP_003265			1	TPC10_HUMAN	TRAPPC10	HGNC	P48553	TPC10_HUMAN			Q76NH5_HUMAN		14	2260	+			UPI0000129E26	697					SNV	TRAPPC10,synonymous_variant,p.=,ENST00000291574,NM_003274.4;TRAPPC10,3_prime_UTR_variant,,ENST00000422875,;TRAPPC10,upstream_gene_variant,,ENST00000459741,;TRAPPC10,downstream_gene_variant,,ENST00000461889,;TRAPPC10,downstream_gene_variant,,ENST00000481460,;	uc002zea.2	c.2091A>G	2266/6976	3	3			c.2091A>G						21	SNP	c.(2089-2091)AGA>AGG	9	9			ovary(1)|skin(1)	2	Broad	trafficking protein particle complex 10			45503036		0.547	ENSG00000160218	16207	g.chr21:45503036A>G	vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity							170.189485	KEEP	25	29	-1	40	65	25	29	-1	173.821985	40	65	0.335526	1	0	0	0	0	0	0	1	0	--	--		0	G			TRAPPC10_uc010gpo.2_Silent_p.R408R|TRAPPC10_uc011afa.1_Silent_p.R116R	247	GBM-32-4213-TP	p.R697R	A	TTATCTGCAGAAACGTCCACA	NM_003274	NP_003265	45503036	P48553	TPC10_HUMAN	0			14	2260	+	G	G			Silent	697						
TRAPPC10	7109		GRCh37	21	45513965	45513965	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000291574.4:c.3019G>A	p.Val1007Met	p.V1007M	ENST00000291574	NM_003274.4	1007	Gtg/Atg	0																																																																																																																																																																																																																																												
TRAPPC12	51112	broad.mit.edu	GRCh37	2	3392024	3392024	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0213-01	TCGA-06-0213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324266.5:c.630C>T	p.Phe210=	p.F210=	ENST00000324266	NM_016030.5	210	ttC/ttT	0			1			T	F	uc002qxm.1	protein_coding	YES	CCDS1652.1			630/2208									ovary(2)|breast(1)|pancreas(1)	4	c.(628-630)TTC>TTT			hmmpanther:PTHR21581:SF1,hmmpanther:PTHR21581	tetratricopeptide repeat domain 15				ENSP00000324318		12-Feb	6.63E-05							0.000495	rs771806325,COSM3407840	12-Feb	common_variant		ENST00000324266	Transcript					binding	ENSG00000171853	g.chr2:3392024C>T	24284			LOW								--	--	1																																		TTC15_uc002qxn.1_Silent_p.F210F|TTC15_uc010ewm.1_Silent_p.F210F|TTC15_uc002qxl.1_Silent_p.F210F	0,1	1			p.F210F	NM_016030	NP_057114			0,1	TPC12_HUMAN	TRAPPC12	HGNC	Q8WVT3	TTC15_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)	Q53S18_HUMAN,Q53QD4_HUMAN		2	836	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)	UPI000014132D	210					SNV	TRAPPC12,synonymous_variant,p.=,ENST00000324266,NM_016030.5;TRAPPC12,synonymous_variant,p.=,ENST00000382110,;TRAPPC12,upstream_gene_variant,,ENST00000441983,;TRAPPC12,synonymous_variant,p.=,ENST00000411973,;TRAPPC12,non_coding_transcript_exon_variant,,ENST00000482645,;TRAPPC12,upstream_gene_variant,,ENST00000457845,;	uc002qxm.1	c.630C>T	825/2508	2	2			c.630C>T						2	SNP	c.(628-630)TTC>TTT	47	47			ovary(2)|breast(1)|pancreas(1)	4	Broad	tetratricopeptide repeat domain 15			3392024		0.587	ENSG00000171853	16432	g.chr2:3392024C>T			binding							1.060288	KEEP	6	2	-1	40	30	6	2	-1	13.557754	40	30	0.093333	1	0	0	0	0	0	0	1	0	--	--		0	T			TTC15_uc002qxn.1_Silent_p.F210F|TTC15_uc010ewm.1_Silent_p.F210F|TTC15_uc002qxl.1_Silent_p.F210F	49	GBM-06-0213-TP	p.F210F	C	GCACGTTCTTCGGAGACACGG	NM_016030	NP_057114	3392024	Q8WVT3	TTC15_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)	2	836	+	T	T	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)	Silent	210						
TRAPPC12	0	broad.mit.edu	GRCh37	2	3392072	3392072	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-87-5896-01	TCGA-87-5896-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324266.5:c.678C>T	p.Ser226=	p.S226=	ENST00000324266	NM_016030.5	226	tcC/tcT	0			1			T	S	uc002qxm.1	protein_coding	YES	CCDS1652.1			678/2208									ovary(2)|breast(1)|pancreas(1)	4	c.(676-678)TCC>TCT			Low_complexity_(Seg):seg,hmmpanther:PTHR21581:SF1,hmmpanther:PTHR21581	tetratricopeptide repeat domain 15				ENSP00000324318		12-Feb									COSM3407841	12-Feb	.		ENST00000324266	Transcript					binding	ENSG00000171853	g.chr2:3392072C>T	24284			LOW								--	--	1																																		TTC15_uc002qxn.1_Silent_p.S226S|TTC15_uc010ewm.1_Silent_p.S226S|TTC15_uc002qxl.1_Silent_p.S226S	1	1			p.S226S	NM_016030	NP_057114			1	TPC12_HUMAN	TRAPPC12	HGNC	Q8WVT3	TTC15_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)	Q53S18_HUMAN,Q53QD4_HUMAN		2	884	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)	UPI000014132D	226					SNV	TRAPPC12,synonymous_variant,p.=,ENST00000324266,NM_016030.5;TRAPPC12,synonymous_variant,p.=,ENST00000382110,;TRAPPC12,upstream_gene_variant,,ENST00000441983,;TRAPPC12,synonymous_variant,p.=,ENST00000411973,;TRAPPC12,non_coding_transcript_exon_variant,,ENST00000482645,;TRAPPC12,upstream_gene_variant,,ENST00000457845,;	uc002qxm.1	c.678C>T	873/2508	2	2			c.678C>T						2	SNP	c.(676-678)TCC>TCT	33	33			ovary(2)|breast(1)|pancreas(1)	4	Broad	tetratricopeptide repeat domain 15			3392072		0.547	ENSG00000171853	16432	g.chr2:3392072C>T			binding							32.845382	KEEP	6	8	-1	6	14	6	8	-1	33.063957	6	14	0.4	1	0	0	0	0	0	0	1	0	--	--		0	T			TTC15_uc002qxn.1_Silent_p.S226S|TTC15_uc010ewm.1_Silent_p.S226S|TTC15_uc002qxl.1_Silent_p.S226S	291	GBM-87-5896-TP	p.S226S	C	TCTTCGACTCCTTTACTACCT	NM_016030	NP_057114	3392072	Q8WVT3	TTC15_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)	2	884	+	T	T	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)	Silent	226						
TRAPPC8	0	broad.mit.edu	GRCh37	18	29496353	29496353	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-19-2631-01	TCGA-19-2631-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283351.4:c.499delT	p.Ser167HisfsTer33	p.S167Hfs*33	ENST00000283351	NM_014939.3	167	Tca/ca	0			1			-	S/X	uc002kxc.3	protein_coding	YES	CCDS11901.1			499/4308										0	c.(499-501)TCAfs			hmmpanther:PTHR12975,hmmpanther:PTHR12975:SF6,Pfam_domain:PF12739	hypothetical protein LOC22878				ENSP00000283351		29-Apr									COSM2156401	29-Apr	.		ENST00000283351	Transcript			ER to Golgi vesicle-mediated transport	cis-Golgi network		ENSG00000153339	g.chr18:29496353delA	29169			HIGH								--	--	1																																		KIAA1012_uc002kxb.3_Frame_Shift_Del_p.S113fs|KIAA1012_uc002kxd.3_RNA|KIAA1012_uc002kxe.2_Frame_Shift_Del_p.S167fs	1	1			p.S167fs	NM_014939	NP_055754			1	TPPC8_HUMAN	TRAPPC8	HGNC	Q9Y2L5	TPPC8_HUMAN			J3QQJ5_HUMAN,J3QKL6_HUMAN		4	863	-			UPI0000052E22	167					deletion	TRAPPC8,frameshift_variant,p.Ser167HisfsTer33,ENST00000283351,NM_014939.3;TRAPPC8,frameshift_variant,p.Ser113HisfsTer33,ENST00000582539,;TRAPPC8,frameshift_variant,p.Ser167HisfsTer33,ENST00000582513,;TRAPPC8,frameshift_variant,p.Ser142HisfsTer33,ENST00000578658,;TRAPPC8,frameshift_variant,p.Ser167HisfsTer33,ENST00000580104,;	uc002kxc.3	c.499delT	835/6226	5	5			c.499delT						18	DEL	c.(499-501)TCAfs	50	50				0	Broad	hypothetical protein LOC22878			29496353		0.348	ENSG00000153339	8065	g.chr18:29496353delA	ER to Golgi vesicle-mediated transport	cis-Golgi network																					0.44	1	1	0	1	0	0	0	0	0	--	--		0	-			KIAA1012_uc002kxb.3_Frame_Shift_Del_p.S113fs|KIAA1012_uc002kxd.3_RNA|KIAA1012_uc002kxe.2_Frame_Shift_Del_p.S167fs	167	GBM-19-2631-TP	p.S167fs	A	TGTTCTTGTGACAACTTTGAA	NM_014939	NP_055754	29496353	Q9Y2L5	TPPC8_HUMAN	0			4	863	-	-	-			Frame_Shift_Del	167						
TRAPPC8	0	broad.mit.edu	GRCh37	18	29435678	29435678	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-41-2573-01	TCGA-41-2573-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283351.4:c.3281A>G	p.Glu1094Gly	p.E1094G	ENST00000283351	NM_014939.3	1094	gAa/gGa	0			1			C	E/G	uc002kxc.3	protein_coding	YES	CCDS11901.1			3281/4308										0	c.(3280-3282)GAA>GGA			hmmpanther:PTHR12975,hmmpanther:PTHR12975:SF6,Pfam_domain:PF12739	hypothetical protein LOC22878				ENSP00000283351		21/29									COSM3403520	21/29	.		ENST00000283351	Transcript			ER to Golgi vesicle-mediated transport	cis-Golgi network		ENSG00000153339	g.chr18:29435678T>C	29169			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=TPPC8_HUMAN&rb=1008&re=1416&var=E1094G	NA	getma.org/?cm=var&var=hg19,18,29435678,T,C&fts=all	E1094G	--	--	1																																		KIAA1012_uc002kxb.3_Missense_Mutation_p.E1040G|KIAA1012_uc002kxd.3_RNA	1	1		benign(0.01)	p.E1094G	NM_014939	NP_055754		tolerated(0.1)	1	TPPC8_HUMAN	TRAPPC8	HGNC	Q9Y2L5	TPPC8_HUMAN			J3QQJ5_HUMAN,J3QKL6_HUMAN		21	3645	-			UPI0000052E22	1094					SNV	TRAPPC8,missense_variant,p.Glu1094Gly,ENST00000283351,NM_014939.3;TRAPPC8,missense_variant,p.Glu1040Gly,ENST00000582539,;TRAPPC8,3_prime_UTR_variant,,ENST00000580104,;TRAPPC8,upstream_gene_variant,,ENST00000578886,;	uc002kxc.3	c.3281A>G	3617/6226	3	3			c.3281A>G						18	SNP	c.(3280-3282)GAA>GGA	63	63				0	Broad	hypothetical protein LOC22878			29435678		0.353	ENSG00000153339	8065	g.chr18:29435678T>C	ER to Golgi vesicle-mediated transport	cis-Golgi network								-49.667996	KEEP	3	0	-1	126	111	3	0	-1	6.412438	126	111	0.014354	1	0	0	0	0	1	0	0	0	--	--		0	C			KIAA1012_uc002kxb.3_Missense_Mutation_p.E1040G|KIAA1012_uc002kxd.3_RNA	252	GBM-41-2573-TP	p.E1094G	T	TCTGCCTTCTTCATTTTCAAG	NM_014939	NP_055754	29435678	Q9Y2L5	TPPC8_HUMAN	0			21	3645	-	C	C			Missense_Mutation	1094						
TRAPPC9	0	broad.mit.edu	GRCh37	8	141310662	141310662	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-28-5214-01	TCGA-28-5214-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000438773.2:c.1674A>G	p.Lys558=	p.K558=	ENST00000438773	NM_001160372.1	558	aaA/aaG	0			1			C	K	uc003yvj.2	protein_coding		CCDS55278.1			1674/3447									skin(2)	2	c.(1672-1674)AAA>AAG			Pfam_domain:PF08626,hmmpanther:PTHR21512,hmmpanther:PTHR21512:SF11	trafficking protein particle complex 9 isoform				ENSP00000405060		23-Nov									COSM3412782	23-Nov	.		ENST00000438773	Transcript	1		cell differentiation	endoplasmic reticulum|Golgi apparatus		ENSG00000167632	g.chr8:141310662T>C	30832			LOW								--	--	1																																		TRAPPC9_uc003yvh.2_Silent_p.K656K|TRAPPC9_uc003yvi.1_Silent_p.K549K	1				p.K558K	NM_001160372	NP_001153844			1	TPPC9_HUMAN	TRAPPC9	HGNC	Q96Q05	TPPC9_HUMAN					11	1808	-			UPI00001A46C7	558					SNV	TRAPPC9,synonymous_variant,p.=,ENST00000389328,NM_031466.5;TRAPPC9,synonymous_variant,p.=,ENST00000438773,NM_001160372.1;TRAPPC9,synonymous_variant,p.=,ENST00000389327,;TRAPPC9,synonymous_variant,p.=,ENST00000520857,;TRAPPC9,non_coding_transcript_exon_variant,,ENST00000521167,;	uc003yvj.2	c.1674A>G	1808/4297	3	3			c.1674A>G						8	SNP	c.(1672-1674)AAA>AAG	13	13			skin(2)	2	Broad	trafficking protein particle complex 9 isoform			141310662		0.443	ENSG00000167632	16215	g.chr8:141310662T>C	cell differentiation	endoplasmic reticulum|Golgi apparatus								-63.95168	KEEP	3	1	-1	151	147	3	1	-1	8.858247	151	147	0.014706	1	0	0	0	0	0	0	1	0	--	--		0	C			TRAPPC9_uc003yvh.2_Silent_p.K656K|TRAPPC9_uc003yvi.1_Silent_p.K549K	221	GBM-28-5214-TP	p.K558K	T	CCAGCAAGCTTTTCATTTTGT	NM_001160372	NP_001153844	141310662	Q96Q05	TPPC9_HUMAN	0			11	1808	-	C	C			Silent	558						
TRAPPC9	0	broad.mit.edu	GRCh37	8	141461384	141461384	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-4210-01	TCGA-32-4210-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000438773.2:c.89A>G	p.Asn30Ser	p.N30S	ENST00000438773	NM_001160372.1	30	aAc/aGc	0		C:0	1	C:0		C	N/S	uc003yvj.2	protein_coding		CCDS55278.1			89/3447									skin(2)	2	c.(88-90)AAC>AGC			Pfam_domain:PF08626,hmmpanther:PTHR21512,hmmpanther:PTHR21512:SF11	trafficking protein particle complex 9 isoform		C:0		ENSP00000405060	C:0.001	23-Feb	8.24E-06					1.54E-05			rs561185313,COSM3412783	23-Feb	.		ENST00000438773	Transcript	1	C:0.0002	cell differentiation	endoplasmic reticulum|Golgi apparatus		ENSG00000167632	g.chr8:141461384T>C	30832			MODERATE		0.095	neutral	getma.org/?cm=msa&ty=f&p=TPPC9_HUMAN&rb=1&re=1108&var=N30S	NA	getma.org/?cm=var&var=hg19,8,141461384,T,C&fts=all	N30S	--	--	1																																		TRAPPC9_uc003yvh.2_Missense_Mutation_p.N128S|TRAPPC9_uc003yvi.1_Missense_Mutation_p.N30S	0,1			probably_damaging(0.987)	p.N30S	NM_001160372	NP_001153844	C:0	tolerated(1)	0,1	TPPC9_HUMAN	TRAPPC9	HGNC	Q96Q05	TPPC9_HUMAN					2	223	-			UPI00001A46C7	30					SNV	TRAPPC9,missense_variant,p.Asn128Ser,ENST00000389328,NM_031466.5;TRAPPC9,missense_variant,p.Asn30Ser,ENST00000438773,NM_001160372.1;TRAPPC9,missense_variant,p.Asn30Ser,ENST00000389327,;TRAPPC9,upstream_gene_variant,,ENST00000520857,;	uc003yvj.2	c.89A>G	223/4297	3	3			c.89A>G						8	SNP	c.(88-90)AAC>AGC	1	1			skin(2)	2	Broad	trafficking protein particle complex 9 isoform			141461384		0.567	ENSG00000167632	16215	g.chr8:141461384T>C	cell differentiation	endoplasmic reticulum|Golgi apparatus								182.754534	KEEP	25	44	-1	25	38	25	44	-1	182.76349	25	38	0.510204	1	0	0	0	0	1	0	0	0	--	--		0	C			TRAPPC9_uc003yvh.2_Missense_Mutation_p.N128S|TRAPPC9_uc003yvi.1_Missense_Mutation_p.N30S	245	GBM-32-4210-TP	p.N30S	T	CCTGAAGAAGTTCTCCTCGGA	NM_001160372	NP_001153844	141461384	Q96Q05	TPPC9_HUMAN	0			2	223	-	C	C			Missense_Mutation	30						
TRAT1	50852	broad.mit.edu	GRCh37	3	108568057	108568057	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0219-01	TCGA-06-0219-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295756.6:c.259G>T	p.Glu87Ter	p.E87*	ENST00000295756	NM_016388.2	87	Gag/Tag	0			1			T	E/*	uc003dxi.1	protein_coding	YES	CCDS33813.1			259/561									skin(1)	1	c.(259-261)GAG>TAG			Pfam_domain:PF15330,hmmpanther:PTHR15951	T-cell receptor interacting molecule				ENSP00000295756		6-May									COSM2150954	6-May	.		ENST00000295756	Transcript			cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	ENSG00000163519	g.chr3:108568057G>T	30698			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,3,108568057,G,T&fts=all	E87*	--	--	1																																		TRAT1_uc010hpx.1_Nonsense_Mutation_p.E50*	1	1			p.E87*	NM_016388	NP_057472			1	TRAT1_HUMAN	TRAT1	HGNC	Q6PIZ9	TRAT1_HUMAN					5	403	+			UPI00001147D3	87			Cytoplasmic (Potential).		SNV	TRAT1,stop_gained,p.Glu87Ter,ENST00000295756,NM_016388.2;TRAT1,stop_gained,p.Glu50Ter,ENST00000426646,;TRAT1,downstream_gene_variant,,ENST00000493604,;TRAT1,downstream_gene_variant,,ENST00000484927,;	uc003dxi.1	c.259G>T	489/1919	5	2			c.259G>T						3	SNP	c.(259-261)GAG>TAG	28	28			skin(1)	1	Broad	T-cell receptor interacting molecule			108568057		0.353	ENSG00000163519	16216	g.chr3:108568057G>T	cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity							77.433387	KEEP	20	16	0.555555556	52	29	20	16	0.555555556	80.938983	52	29	0.298969	1	0	0	0	0	0	1	0	0	--	--		0	T			TRAT1_uc010hpx.1_Nonsense_Mutation_p.E50*	52	GBM-06-0219-TP	p.E87*	G	AGCCCGACCAGAGAAATCTGT	NM_016388	NP_057472	108568057	Q6PIZ9	TRAT1_HUMAN	0			5	403	+	T	T			Nonsense_Mutation	87			Cytoplasmic (Potential).			
TRAT1	0	broad.mit.edu	GRCh37	3	108572525	108572525	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01	TCGA-19-5955-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295756.6:c.362G>A	p.Arg121His	p.R121H	ENST00000295756	NM_016388.2	121	cGt/cAt	0		A:0	1	A:0		A	R/H	uc003dxi.1	protein_coding	YES	CCDS33813.1			362/561									skin(1)	1	c.(361-363)CGT>CAT			Pfam_domain:PF15330,hmmpanther:PTHR15951	T-cell receptor interacting molecule		A:0		ENSP00000295756	A:0	6-Jun	7.41E-05	9.64E-05						0.000485	rs567522133,COSM1036108	6-Jun	common_variant		ENST00000295756	Transcript		A:0.0006	cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	ENSG00000163519	g.chr3:108572525G>A	30698			MODERATE		0.68	neutral	getma.org/?cm=msa&ty=f&p=TRAT1_HUMAN&rb=15&re=184&var=R121H	NA	getma.org/?cm=var&var=hg19,3,108572525,G,A&fts=all	R121H	--	--	1																																		TRAT1_uc010hpx.1_Missense_Mutation_p.R84H	0,1	1		benign(0.016)	p.R121H	NM_016388	NP_057472	A:0.0031	tolerated(0.6)	0,1	TRAT1_HUMAN	TRAT1	HGNC	Q6PIZ9	TRAT1_HUMAN					6	506	+			UPI00001147D3	121			Cytoplasmic (Potential).		SNV	TRAT1,missense_variant,p.Arg121His,ENST00000295756,NM_016388.2;TRAT1,missense_variant,p.Arg84His,ENST00000426646,;	uc003dxi.1	c.362G>A	592/1919	1	1			c.362G>A						3	SNP	c.(361-363)CGT>CAT	52	52			skin(1)	1	Broad	T-cell receptor interacting molecule			108572525		0.423	ENSG00000163519	16216	g.chr3:108572525G>A	cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity							27.629977	KEEP	6	10	-1	41	51	6	10	-1	39.775732	41	51	0.152381	1	0	0	0	0	1	0	0	0	--	--		0	A			TRAT1_uc010hpx.1_Missense_Mutation_p.R84H	175	GBM-19-5955-TP	p.R121H	G	AAGGGGAAGCGTAGAAAGCCC	NM_016388	NP_057472	108572525	Q6PIZ9	TRAT1_HUMAN	0			6	506	+	A	A			Missense_Mutation	121			Cytoplasmic (Potential).			
TRAT1	0	broad.mit.edu	GRCh37	3	108572602	108572602	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs142175794	byFrequency	TCGA-28-2509-01	TCGA-28-2509-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295756.6:c.439G>A	p.Val147Ile	p.V147I	ENST00000295756	NM_016388.2	147	Gtt/Att	0	A:0.002	A:0.0008	1	A:0		A	V/I	uc003dxi.1	protein_coding	YES	CCDS33813.1			439/561									skin(1)	1	c.(439-441)GTT>ATT			hmmpanther:PTHR15951	T-cell receptor interacting molecule		A:0	A:0	ENSP00000295756	A:0	6-Jun	0.000165	0.00125	8.65E-05	0.000116		6.00E-05		6.06E-05	rs142175794,COSM3391952	6-Jun	common_variant		ENST00000295756	Transcript		A:0.0002	cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	ENSG00000163519	g.chr3:108572602G>A	30698			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=TRAT1_HUMAN&rb=15&re=184&var=V147I	NA	getma.org/?cm=var&var=hg19,3,108572602,G,A&fts=all	V147I	--	--	1																																		TRAT1_uc010hpx.1_Missense_Mutation_p.V110I	0,1	1		benign(0.001)	p.V147I	NM_016388	NP_057472	A:0	tolerated(0.53)	0,1	TRAT1_HUMAN	TRAT1	HGNC	Q6PIZ9	TRAT1_HUMAN					6	583	+			UPI00001147D3	147			Cytoplasmic (Potential).		SNV	TRAT1,missense_variant,p.Val147Ile,ENST00000295756,NM_016388.2;TRAT1,missense_variant,p.Val110Ile,ENST00000426646,;	uc003dxi.1	c.439G>A	669/1919	2	2			c.439G>A						3	SNP	c.(439-441)GTT>ATT	44	44			skin(1)	1	Broad	T-cell receptor interacting molecule			108572602		0.458	ENSG00000163519	16216	g.chr3:108572602G>A	cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity							135.890802	KEEP	21	27	-1	38	57	21	27	-1	139.107391	38	57	0.338129	1	0	0	0	0	1	0	0	0	--	--		0	A			TRAT1_uc010hpx.1_Missense_Mutation_p.V110I	211	GBM-28-2509-TP	p.V147I	G	AGATGCCAGCGTTTCTAAGAC	NM_016388	NP_057472	108572602	Q6PIZ9	TRAT1_HUMAN	0			6	583	+	A	A			Missense_Mutation	147			Cytoplasmic (Potential).			
TREH	0	broad.mit.edu	GRCh37	11	118530175	118530175	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-4928-01	TCGA-76-4928-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264029.4:c.1336A>G	p.Thr446Ala	p.T446A	ENST00000264029	NM_007180.2	446	Act/Gct	0			1			C	T/A	uc001pty.1	protein_coding	YES				1336/1749									pancreas(1)	1	c.(1336-1338)ACT>GCT			Pfam_domain:PF01204,hmmpanther:PTHR23403,hmmpanther:PTHR23403:SF1,Superfamily_domains:SSF48208	trehalase precursor				ENSP00000264029		16-Dec									COSM3397455,COSM3397456	16-Dec	.		ENST00000264029	Transcript	1		polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity	ENSG00000118094	g.chr11:118530175T>C	12266			MODERATE								--	--	1																																OREG0021385	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	TREH_uc009zaj.1_Missense_Mutation_p.T415A|TREH_uc001ptz.1_Missense_Mutation_p.T323A	1,1	1		benign(0.032)	p.T446A	NM_007180	NP_009111		tolerated(0.41)	1,1	TREA_HUMAN	TREH	HGNC	O43280	TREA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)			12	1381	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)	UPI00001AE89B	446					SNV	TREH,missense_variant,p.Thr446Ala,ENST00000529101,;TREH,missense_variant,p.Thr446Ala,ENST00000264029,NM_007180.2;TREH,missense_variant,p.Thr323Ala,ENST00000530256,;TREH,missense_variant,p.Thr415Ala,ENST00000525958,;TREH,missense_variant,p.Thr415Ala,ENST00000397925,;PHLDB1,downstream_gene_variant,,ENST00000361417,NM_015157.3;PHLDB1,downstream_gene_variant,,ENST00000356063,NM_001144759.2,NM_001144758.2;PHLDB1,downstream_gene_variant,,ENST00000527898,;PHLDB1,downstream_gene_variant,,ENST00000524713,;PHLDB1,downstream_gene_variant,,ENST00000534672,;PHLDB1,downstream_gene_variant,,ENST00000534140,;PHLDB1,downstream_gene_variant,,ENST00000530994,;PHLDB1,downstream_gene_variant,,ENST00000528823,;PHLDB1,downstream_gene_variant,,ENST00000528594,;PHLDB1,downstream_gene_variant,,ENST00000532517,;PHLDB1,downstream_gene_variant,,ENST00000525698,;PHLDB1,downstream_gene_variant,,ENST00000526537,;TREH,downstream_gene_variant,,ENST00000531295,;TREH,downstream_gene_variant,,ENST00000527558,;	uc001pty.1	c.1336A>G	1381/1851	3	3			c.1336A>G						11	SNP	c.(1336-1338)ACT>GCT	55	55			pancreas(1)	1	Broad	trehalase precursor			118530175		0.617	ENSG00000118094	16219	g.chr11:118530175T>C	polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity							7.988209	KEEP	3	2	-1	7	9	3	2	-1	9.269981	7	9	0.222222	1	0	0	0	0	1	0	0	0	--	--		0	C	OREG0021385	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	TREH_uc009zaj.1_Missense_Mutation_p.T415A|TREH_uc001ptz.1_Missense_Mutation_p.T323A	268	GBM-76-4928-TP	p.T446A	T	TACTGGTAAGTCAGGATCCGG	NM_007180	NP_009111	118530175	O43280	TREA_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)	12	1381	-	C	C	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)	Missense_Mutation	446						
TREM1	0	broad.mit.edu	GRCh37	6	41254356	41254356	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-81-5910-01	TCGA-81-5910-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000244709.4:c.38T>C	p.Leu13Pro	p.L13P	ENST00000244709	NM_018643.3	13	cTc/cCc	0			1			G	L/P	uc003oqf.1	protein_coding	YES	CCDS4854.1			38/705									breast(1)	1	c.(37-39)CTC>CCC			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR19357:SF1,hmmpanther:PTHR19357	triggering receptor expressed on myeloid cells 1	Glutathione(DB00143)			ENSP00000244709		4-Jan									COSM3748342	4-Jan	.		ENST00000244709	Transcript			blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity	ENSG00000124731	g.chr6:41254356A>G	17760			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=TREM1_HUMAN&rb=1&re=49&var=L13P	NA	getma.org/?cm=var&var=hg19,6,41254356,A,G&fts=all	L13P	--	--	1																																		TREM1_uc003oqg.1_Missense_Mutation_p.L13P	1	1		possibly_damaging(0.621)	p.L13P	NM_018643	NP_061113		deleterious(0)	1	TREM1_HUMAN	TREM1	HGNC	Q9NP99	TREM1_HUMAN			Q38L15_HUMAN		1	102	-	Ovarian(28;0.0327)|Colorectal(47;0.196)		UPI0000047FA9	13					SNV	TREM1,missense_variant,p.Leu13Pro,ENST00000591620,NM_001242589.1;TREM1,missense_variant,p.Leu13Pro,ENST00000244709,NM_018643.3;TREM1,missense_variant,p.Leu13Pro,ENST00000334475,NM_001242590.1;TREM1,missense_variant,p.Leu13Pro,ENST00000589614,;TREM1,non_coding_transcript_exon_variant,,ENST00000586287,;TREM1,upstream_gene_variant,,ENST00000589882,;	uc003oqf.1	c.38T>C	102/1690	4	4			c.38T>C						6	SNP	c.(37-39)CTC>CCC	18	18			breast(1)	1	Broad	triggering receptor expressed on myeloid cells 1		Glutathione(DB00143)	41254356		0.587	ENSG00000124731	16220	g.chr6:41254356A>G	blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity							-9.136784	KEEP	2	2	-1	35	51	2	2	-1	7.117902	35	51	0.041667	1	0	0	0	0	1	0	0	0	--	--		0	G			TREM1_uc003oqg.1_Missense_Mutation_p.L13P	289	GBM-81-5910-TP	p.L13P	A	TGAGACAAAGAGCATCCACAG	NM_018643	NP_061113	41254356	Q9NP99	TREM1_HUMAN	0			1	102	-	G	G	Ovarian(28;0.0327)|Colorectal(47;0.196)		Missense_Mutation	13						
TREML1	0	broad.mit.edu	GRCh37	6	41121571	41121571	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01	TCGA-41-5651-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000426005.2:c.301G>A	p.Glu101Lys	p.E101K	ENST00000426005	NM_178174.3	101	Gag/Aag	0	T:0.0002		1			T	E/K	uc011duc.1	protein_coding	YES	CCDS4851.1			301/936									breast(1)	1	c.(301-303)GAG>AAG			Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR11860,hmmpanther:PTHR11860:SF35,Superfamily_domains:SSF48726	triggering receptor expressed on myeloid			T:0	ENSP00000402855		6-Feb	8.24E-06							6.06E-05	rs370662718,COSM3411095	6-Feb	.		ENST00000426005	Transcript			calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity	ENSG00000161911	g.chr6:41121571C>T	20434			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=TRML1_HUMAN&rb=17&re=122&var=E101K	getma.org/pdb.php?prot=TRML1_HUMAN&from=17&to=122&var=E101K	getma.org/?cm=var&var=hg19,6,41121571,C,T&fts=all	E101K	--	--	1																																		TREML1_uc003opx.2_Missense_Mutation_p.E101K|TREML1_uc011dud.1_Intron	0,1	1		benign(0.43)	p.E101K	NM_178174	NP_835468		tolerated(0.07)	0,1	TRML1_HUMAN	TREML1	HGNC	Q86YW5	TRML1_HUMAN					2	345	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		UPI0000074451	101			Ig-like V-type.|Extracellular (Potential).		SNV	TREML1,missense_variant,p.Glu101Lys,ENST00000373127,NM_001271807.1;TREML1,missense_variant,p.Glu101Lys,ENST00000426005,NM_178174.3;TREML1,intron_variant,,ENST00000437044,NM_001271808.1;TREM2,downstream_gene_variant,,ENST00000373113,NM_018965.3;TREM2,downstream_gene_variant,,ENST00000373122,;TREM2,downstream_gene_variant,,ENST00000338469,NM_001271821.1;TREML1,upstream_gene_variant,,ENST00000590581,;	uc011duc.1	c.301G>A	345/981	2	2			c.301G>A						6	SNP	c.(301-303)GAG>AAG	18	18			breast(1)	1	Broad	triggering receptor expressed on myeloid			41121571		0.602	ENSG00000161911	16222	g.chr6:41121571C>T	calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity							70.032591	KEEP	17	11	-1	17	23	17	11	-1	70.230529	17	23	0.433962	1	0	0	0	0	1	0	0	0	--	--		0	T			TREML1_uc003opx.2_Missense_Mutation_p.E101K|TREML1_uc011dud.1_Intron	258	GBM-41-5651-TP	p.E101K	C	CAGCCATACTCGCCAGCATCC	NM_178174	NP_835468	41121571	Q86YW5	TRML1_HUMAN	0			2	345	-	T	T	Ovarian(28;0.0418)|Colorectal(47;0.196)		Missense_Mutation	101			Ig-like V-type.|Extracellular (Potential).			
TREML2	79865	broad.mit.edu	GRCh37	6	41162491	41162491	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01	TCGA-02-0047-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000483722.1:c.457C>T	p.Pro153Ser	p.P153S	ENST00000483722	NM_024807.2	153	Cct/Tct	0			1			A	P/S	uc010jxm.1	protein_coding	YES	CCDS4853.2			457/966									ovary(1)|central_nervous_system(1)	2	c.(457-459)CCT>TCT			hmmpanther:PTHR16423,hmmpanther:PTHR16423:SF3	triggering receptor expressed on myeloid				ENSP00000418767		5-Mar									COSM3411097	5-Mar	.		ENST00000483722	Transcript			T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	ENSG00000112195	g.chr6:41162491G>A	21092			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=TRML2_HUMAN&rb=125&re=321&var=P153S	NA	getma.org/?cm=var&var=hg19,6,41162491,G,A&fts=all	P153S	--	--	1																																			1	1		benign(0.178)	p.P153S	NM_024807	NP_079083		tolerated(0.06)	1	TRML2_HUMAN	TREML2	HGNC	Q5T2D2	TRML2_HUMAN					3	636	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		UPI0000074452	153			Extracellular (Potential).		SNV	TREML2,missense_variant,p.Pro153Ser,ENST00000483722,NM_024807.2;	uc010jxm.1	c.457C>T	643/3302	1	1			c.457C>T						6	SNP	c.(457-459)CCT>TCT	59	59			ovary(1)|central_nervous_system(1)	2	Broad	triggering receptor expressed on myeloid			41162491		0.542	ENSG00000112195	16223	g.chr6:41162491G>A	T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity							54.769509	KEEP	15	18	-1	32	28	15	18	-1	57.501954	32	28	0.289855	1	0	0	0	0	1	0	0	0	--	--		0	A				3	GBM-02-0047-TP	p.P153S	G	CCTGAGGTAGGGGCTTGGCCA	NM_024807	NP_079083	41162491	Q5T2D2	TRML2_HUMAN	0			3	636	-	A	A	Ovarian(28;0.0418)|Colorectal(47;0.196)		Missense_Mutation	153			Extracellular (Potential).			
TREML2	79865	broad.mit.edu	GRCh37	6	41166083	41166083	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-2557-01	TCGA-06-2557-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000483722.1:c.140A>G	p.Lys47Arg	p.K47R	ENST00000483722	NM_024807.2	47	aAa/aGa	0			1			C	K/R	uc010jxm.1	protein_coding	YES	CCDS4853.2			140/966									ovary(1)|central_nervous_system(1)	2	c.(139-141)AAA>AGA			Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR16423,hmmpanther:PTHR16423:SF3,Superfamily_domains:SSF48726	triggering receptor expressed on myeloid				ENSP00000418767		5-Feb									COSM2152541	5-Feb	.		ENST00000483722	Transcript			T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	ENSG00000112195	g.chr6:41166083T>C	21092			MODERATE		0.485	neutral	getma.org/?cm=msa&ty=f&p=TRML2_HUMAN&rb=16&re=124&var=K47R	getma.org/pdb.php?prot=TRML2_HUMAN&from=16&to=124&var=K47R	getma.org/?cm=var&var=hg19,6,41166083,T,C&fts=all	K47R	--	--	1																																			1	1		benign(0.046)	p.K47R	NM_024807	NP_079083		tolerated(0.42)	1	TRML2_HUMAN	TREML2	HGNC	Q5T2D2	TRML2_HUMAN					2	319	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		UPI0000074452	47			Ig-like V-type.|Extracellular (Potential).		SNV	TREML2,missense_variant,p.Lys47Arg,ENST00000483722,NM_024807.2;	uc010jxm.1	c.140A>G	326/3302	4	4			c.140A>G						6	SNP	c.(139-141)AAA>AGA	33	33			ovary(1)|central_nervous_system(1)	2	Broad	triggering receptor expressed on myeloid			41166083		0.537	ENSG00000112195	16223	g.chr6:41166083T>C	T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity							357.078665	KEEP	58	60	-1	120	98	58	60	-1	362.760985	120	98	0.353333	1	0	0	0	0	1	0	0	0	--	--		0	C				81	GBM-06-2557-TP	p.K47R	T	CACGCGGTTTTTGTAGCCCTT	NM_024807	NP_079083	41166083	Q5T2D2	TRML2_HUMAN	0			2	319	-	C	C	Ovarian(28;0.0418)|Colorectal(47;0.196)		Missense_Mutation	47			Ig-like V-type.|Extracellular (Potential).			
TREML2	0	broad.mit.edu	GRCh37	6	41166020	41166020	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01	TCGA-12-1597-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000483722.1:c.203C>T	p.Ala68Val	p.A68V	ENST00000483722	NM_024807.2	68	gCc/gTc	0			1			A	A/V	uc010jxm.1	protein_coding	YES	CCDS4853.2			203/966									ovary(1)|central_nervous_system(1)	2	c.(202-204)GCC>GTC			Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR16423,hmmpanther:PTHR16423:SF3,Superfamily_domains:SSF48726	triggering receptor expressed on myeloid				ENSP00000418767		5-Feb									COSM3411098	5-Feb	.		ENST00000483722	Transcript			T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	ENSG00000112195	g.chr6:41166020G>A	21092			MODERATE		0.205	neutral	getma.org/?cm=msa&ty=f&p=TRML2_HUMAN&rb=16&re=124&var=A68V	getma.org/pdb.php?prot=TRML2_HUMAN&from=16&to=124&var=A68V	getma.org/?cm=var&var=hg19,6,41166020,G,A&fts=all	A68V	--	--	1																																			1	1		benign(0.016)	p.A68V	NM_024807	NP_079083		tolerated(0.16)	1	TRML2_HUMAN	TREML2	HGNC	Q5T2D2	TRML2_HUMAN					2	382	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		UPI0000074452	68			Ig-like V-type.|Extracellular (Potential).		SNV	TREML2,missense_variant,p.Ala68Val,ENST00000483722,NM_024807.2;	uc010jxm.1	c.203C>T	389/3302	2	2			c.203C>T						6	SNP	c.(202-204)GCC>GTC	21	21			ovary(1)|central_nervous_system(1)	2	Broad	triggering receptor expressed on myeloid			41166020		0.572	ENSG00000112195	16223	g.chr6:41166020G>A	T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity							-46.022752	KEEP	5	0	-1	135	95	5	0	-1	7.061726	135	95	0.019512	1	0	0	0	0	1	0	0	0	--	--		0	A				124	GBM-12-1597-TP	p.A68V	G	CCAGACTCGGGCAAAGCCAGG	NM_024807	NP_079083	41166020	Q5T2D2	TRML2_HUMAN	0			2	382	-	A	A	Ovarian(28;0.0418)|Colorectal(47;0.196)		Missense_Mutation	68			Ig-like V-type.|Extracellular (Potential).			
TREML2	79865		GRCh37	6	41166078	41166078	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000483722.1:c.145C>T	p.Arg49Cys	p.R49C	ENST00000483722	NM_024807.2	49	Cgc/Tgc	0																																																																																																																																																																																																																																												
TREML4	0	broad.mit.edu	GRCh37	6	41196175	41196175	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01	TCGA-16-1045-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341495.2:c.10G>A	p.Gly4Ser	p.G4S	ENST00000341495	NM_198153.2	4	Ggt/Agt	0			1			A	G/S	uc003oqc.2	protein_coding	YES	CCDS34446.1			10/603									breast(1)	1	c.(10-12)GGT>AGT			hmmpanther:PTHR16423:SF1,hmmpanther:PTHR16423,Cleavage_site_(Signalp):SignalP-noTM	triggering receptor expressed on myeloid				ENSP00000342570		6-Jan									COSM3411099	6-Jan	.		ENST00000341495	Transcript				extracellular region		ENSG00000188056	g.chr6:41196175G>A	30807			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TRML4_HUMAN&rb=1&re=46&var=G4S	NA	getma.org/?cm=var&var=hg19,6,41196175,G,A&fts=all	G4S	--	--	1																																		TREML4_uc003oqd.2_5'Flank	1	1		benign(0.011)	p.G4S	NM_198153	NP_937796		tolerated_low_confidence(0.17)	1	TRML4_HUMAN	TREML4	HGNC	Q6UXN2	TRML4_HUMAN					1	114	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		UPI00001D696F	4					SNV	TREML4,missense_variant,p.Gly4Ser,ENST00000341495,NM_198153.2;TREML4,missense_variant,p.Gly4Ser,ENST00000448827,;TREML4,upstream_gene_variant,,ENST00000461240,;	uc003oqc.2	c.10G>A	114/2070	1	1			c.10G>A						6	SNP	c.(10-12)GGT>AGT	52	52			breast(1)	1	Broad	triggering receptor expressed on myeloid			41196175		0.597	ENSG00000188056	16224	g.chr6:41196175G>A		extracellular region								20.177878	KEEP	4	5	-1	10	15	4	5	-1	21.042778	10	15	0.307692	1	0	0	0	0	1	0	0	0	--	--		0	A			TREML4_uc003oqd.2_5'Flank	157	GBM-16-1045-TP	p.G4S	G	AATGGCCTGGGGTGGGGTCCA	NM_198153	NP_937796	41196175	Q6UXN2	TRML4_HUMAN	0			1	114	+	A	A	Ovarian(28;0.0327)|Colorectal(47;0.196)		Missense_Mutation	4						
TRERF1	55809		GRCh37	6	42231242	42231242	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000372922.4:c.1700C>T	p.Pro567Leu	p.P567L	ENST00000372922	NM_033502.2	567	cCg/cTg	0																																																																																																																																																																																																																																												
TREX2	0	broad.mit.edu	GRCh37	X	152710600	152710600	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01	TCGA-26-5136-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334497.2:c.418G>A	p.Val140Met	p.V140M	ENST00000334497		140	Gtg/Atg	0			1			T	V/M	uc010nue.1	protein_coding					418/840									large_intestine(1)	1	c.(415-417)GTG>ATG		Editing_and_processing_nucleases	hmmpanther:PTHR13058,hmmpanther:PTHR13058:SF13,Gene3D:3.30.420.10,Pfam_domain:PF00929,SMART_domains:SM00479,Superfamily_domains:SSF53098	three prime repair exonuclease 2				ENSP00000334993		11-Nov	2.49E-05			0.000266		4.37E-05			rs782119886,COSM1117283,COSM1117282	11-Nov	.		ENST00000334497	Transcript			DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding	ENSG00000183479	g.chrX:152710600C>T	12270			MODERATE		2.62	medium	getma.org/?cm=msa&ty=f&p=TREX2_HUMAN&rb=54&re=244&var=V140M	getma.org/pdb.php?prot=TREX2_HUMAN&from=54&to=244&var=V140M	getma.org/?cm=var&var=hg19,X,152710600,C,T&fts=all	V140M	--	--	1																																		TREX2_uc010nud.1_Missense_Mutation_p.V97M|TREX2_uc011myp.1_Missense_Mutation_p.V97M|HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA	0,1,1			probably_damaging(0.925)	p.V139M	NM_080701	NP_542432		deleterious(0.01)	0,1,1	TREX2_HUMAN	TREX2	HGNC	Q9BQ50	TREX2_HUMAN					3	531	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		UPI000006ECFE	140					SNV	TREX2,missense_variant,p.Val97Met,ENST00000330912,;TREX2,missense_variant,p.Val97Met,ENST00000338525,;TREX2,missense_variant,p.Val140Met,ENST00000334497,;TREX2,missense_variant,p.Val140Met,ENST00000370232,;TREX2,missense_variant,p.Val97Met,ENST00000370231,NM_080701.3;TREX2,missense_variant,p.Val139Met,ENST00000414588,;TREX2,missense_variant,p.Val97Met,ENST00000393862,;TREX2,missense_variant,p.Val140Met,ENST00000402951,;HAUS7,downstream_gene_variant,,ENST00000421080,;HAUS7,downstream_gene_variant,,ENST00000370211,NM_017518.7;HAUS7,downstream_gene_variant,,ENST00000370212,;HAUS7,downstream_gene_variant,,ENST00000435662,;HAUS7,downstream_gene_variant,,ENST00000484394,;HAUS7,downstream_gene_variant,,ENST00000491286,;HAUS7,downstream_gene_variant,,ENST00000437046,;HAUS7,downstream_gene_variant,,ENST00000460898,;	uc010nue.1	c.415G>A	1560/1982	2	2			c.415G>A						23	SNP	c.(415-417)GTG>ATG	32	32			large_intestine(1)	1	Broad	three prime repair exonuclease 2	Editing_and_processing_nucleases		152710600		0.657	ENSG00000183479	16227	g.chrX:152710600C>T	DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding							30.55431	KEEP	5	8	-1	12	23	5	8	-1	32.353997	12	23	0.288889	1	0	0	0	0	1	0	0	0	--	--		0	T			TREX2_uc010nud.1_Missense_Mutation_p.V97M|TREX2_uc011myp.1_Missense_Mutation_p.V97M|HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA	185	GBM-26-5136-TP	p.V139M	C	GTCCGCACCACGGCGCCATCA	NM_080701	NP_542432	152710600	Q9BQ50	TREX2_HUMAN	0			3	531	-	T	T	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	140						
TRH	0	broad.mit.edu	GRCh37	3	129696024	129696024	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01	TCGA-76-6285-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302649.3:c.694C>T	p.Arg232Trp	p.R232W	ENST00000302649	NM_007117.4	232	Cgg/Tgg	0			1			T	R/W	uc003enc.2	protein_coding	YES	CCDS3066.1			694/729									ovary(1)	1	c.(694-696)CGG>TGG			PIRSF_domain:PIRSF001795,hmmpanther:PTHR17530,hmmpanther:PTHR17530:SF2	thyrotropin-releasing hormone				ENSP00000303452		3-Mar	2.53E-05		8.77E-05			1.63E-05			rs752218511,COSM3408220	3-Mar	.		ENST00000302649	Transcript	1		cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	ENSG00000170893	g.chr3:129696024C>T	12298			MODERATE		0.85	low	getma.org/?cm=msa&ty=f&p=TRH_HUMAN&rb=211&re=242&var=R232W	NA	getma.org/?cm=var&var=hg19,3,129696024,C,T&fts=all	R232W	--	--	1																																			0,1	1		benign(0.022)	p.R232W	NM_007117	NP_009048		deleterious(0.03)	0,1	TRH_HUMAN	TRH	HGNC	P20396	TRH_HUMAN					3	1255	+			UPI0000136F2B	232					SNV	TRH,missense_variant,p.Arg232Trp,ENST00000302649,NM_007117.4;TRH,missense_variant,p.Arg228Trp,ENST00000507066,;	uc003enc.2	c.694C>T	1221/1978	1	1			c.694C>T						3	SNP	c.(694-696)CGG>TGG	4	4			ovary(1)	1	Broad	thyrotropin-releasing hormone			129696024		0.622	ENSG00000170893	16228	g.chr3:129696024C>T	cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	Esophageal Squamous(60;321 1330 17401 41911)			Esophageal Squamous(60;321 1330 17401 41911)			61.740366	KEEP	14	9	-1	11	15	14	9	-1	61.761597	11	15	0.477273	1	0	0	0	0	1	0	0	0	--	--		0	T				280	GBM-76-6285-TP	p.R232W	C	CCCTGGTCGGCGGGCAGCCTG	NM_007117	NP_009048	129696024	P20396	TRH_HUMAN	0			3	1255	+	T	T			Missense_Mutation	232						
TRHDE	0	broad.mit.edu	GRCh37	12	73046870	73046870	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01	TCGA-14-1395-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261180.4:c.2783G>A	p.Arg928Gln	p.R928Q	ENST00000261180	NM_013381.2	928	cGa/cAa	0			1			A	R/Q	uc001sxa.2	protein_coding	YES	CCDS9004.1			2783/3075									ovary(2)|skin(1)	3	c.(2782-2784)CGA>CAA			Pfam_domain:PF11838,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF40	thyrotropin-releasing hormone degrading enzyme				ENSP00000261180		17/19	8.24E-06					1.50E-05			rs771688480,COSM1513174	17/19	.		ENST00000261180	Transcript			cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	ENSG00000072657	g.chr12:73046870G>A	30748			MODERATE		0.965	low	getma.org/?cm=msa&ty=f&p=TRHDE_HUMAN&rb=678&re=1004&var=R928Q	getma.org/pdb.php?prot=TRHDE_HUMAN&from=678&to=1004&var=R928Q	getma.org/?cm=var&var=hg19,12,73046870,G,A&fts=all	R928Q	--	--	1																																			0,1	1		benign(0.32)	p.R928Q	NM_013381	NP_037513		tolerated(0.09)	0,1	TRHDE_HUMAN	TRHDE	HGNC	Q9UKU6	TRHDE_HUMAN					17	2813	+			UPI0000136D52	928			Extracellular (Potential).		SNV	TRHDE,missense_variant,p.Arg928Gln,ENST00000261180,NM_013381.2;	uc001sxa.2	c.2783G>A	2879/5618	2	2			c.2783G>A						12	SNP	c.(2782-2784)CGA>CAA	48	48			ovary(2)|skin(1)	3	Broad	thyrotropin-releasing hormone degrading enzyme			73046870		0.353	ENSG00000072657	16229	g.chr12:73046870G>A	cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding							64.533872	KEEP	9	15	-1	25	16	9	15	-1	65.471894	25	16	0.366667	1	0	0	0	0	1	0	0	0	--	--		0	A				144	GBM-14-1395-TP	p.R928Q	G	CATGTAGCTCGAAATCCACAT	NM_013381	NP_037513	73046870	Q9UKU6	TRHDE_HUMAN	0			17	2813	+	A	A			Missense_Mutation	928			Extracellular (Potential).			
TRHDE	0	broad.mit.edu	GRCh37	12	73015443	73015443	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-2554-01	TCGA-14-2554-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261180.4:c.2452A>G	p.Ile818Val	p.I818V	ENST00000261180	NM_013381.2	818	Ata/Gta	0			1			G	I/V	uc001sxa.2	protein_coding	YES	CCDS9004.1			2452/3075									ovary(2)|skin(1)	3	c.(2452-2454)ATA>GTA			Pfam_domain:PF11838,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF40	thyrotropin-releasing hormone degrading enzyme				ENSP00000261180		15/19									COSM3399082	15/19	.		ENST00000261180	Transcript			cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	ENSG00000072657	g.chr12:73015443A>G	30748			MODERATE		1.26	low	getma.org/?cm=msa&ty=f&p=TRHDE_HUMAN&rb=678&re=1004&var=I818V	getma.org/pdb.php?prot=TRHDE_HUMAN&from=678&to=1004&var=I818V	getma.org/?cm=var&var=hg19,12,73015443,A,G&fts=all	I818V	--	--	1																																			1	1		possibly_damaging(0.509)	p.I818V	NM_013381	NP_037513		tolerated(0.08)	1	TRHDE_HUMAN	TRHDE	HGNC	Q9UKU6	TRHDE_HUMAN					15	2482	+			UPI0000136D52	818			Extracellular (Potential).		SNV	TRHDE,missense_variant,p.Ile818Val,ENST00000261180,NM_013381.2;TRHDE,downstream_gene_variant,,ENST00000549138,;TRHDE,downstream_gene_variant,,ENST00000549922,;	uc001sxa.2	c.2452A>G	2548/5618	3	3			c.2452A>G						12	SNP	c.(2452-2454)ATA>GTA	56	56			ovary(2)|skin(1)	3	Broad	thyrotropin-releasing hormone degrading enzyme			73015443		0.363	ENSG00000072657	16229	g.chr12:73015443A>G	cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding							280.380107	KEEP	43	38	-1	17	41	43	38	-1	281.306667	17	41	0.592	1	0	0	0	0	1	0	0	0	--	--		0	G				150	GBM-14-2554-TP	p.I818V	A	TAGAGAAGTTATAATGCTGGC	NM_013381	NP_037513	73015443	Q9UKU6	TRHDE_HUMAN	0			15	2482	+	G	G			Missense_Mutation	818			Extracellular (Potential).			
TRHDE	0	broad.mit.edu	GRCh37	12	73056901	73056901	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2523-01	TCGA-27-2523-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261180.4:c.3001G>A	p.Glu1001Lys	p.E1001K	ENST00000261180	NM_013381.2	1001	Gaa/Aaa	0			1			A	E/K	uc001sxa.2	protein_coding	YES	CCDS9004.1			3001/3075									ovary(2)|skin(1)	3	c.(3001-3003)GAA>AAA			hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF40	thyrotropin-releasing hormone degrading enzyme				ENSP00000261180		19/19									COSM1737419	19/19	.		ENST00000261180	Transcript			cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	ENSG00000072657	g.chr12:73056901G>A	30748			MODERATE		-0.06	neutral	getma.org/?cm=msa&ty=f&p=TRHDE_HUMAN&rb=678&re=1004&var=E1001K	getma.org/pdb.php?prot=TRHDE_HUMAN&from=678&to=1004&var=E1001K	getma.org/?cm=var&var=hg19,12,73056901,G,A&fts=all	E1001K	--	--	1																																			1	1		benign(0.037)	p.E1001K	NM_013381	NP_037513		tolerated(1)	1	TRHDE_HUMAN	TRHDE	HGNC	Q9UKU6	TRHDE_HUMAN					19	3031	+			UPI0000136D52	1001			Extracellular (Potential).		SNV	TRHDE,missense_variant,p.Glu1001Lys,ENST00000261180,NM_013381.2;	uc001sxa.2	c.3001G>A	3097/5618	1	1			c.3001G>A						12	SNP	c.(3001-3003)GAA>AAA	55	55			ovary(2)|skin(1)	3	Broad	thyrotropin-releasing hormone degrading enzyme			73056901		0.373	ENSG00000072657	16229	g.chr12:73056901G>A	cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding							201.084912	KEEP	29	44	-1	47	30	29	44	-1	201.172261	47	30	0.528455	1	0	0	0	0	1	0	0	0	--	--		0	A				201	GBM-27-2523-TP	p.E1001K	G	GGAAACTGTCGAAGCCAATGT	NM_013381	NP_037513	73056901	Q9UKU6	TRHDE_HUMAN	0			19	3031	+	A	A			Missense_Mutation	1001			Extracellular (Potential).			
TRHDE	0	broad.mit.edu	GRCh37	12	72771778	72771778	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-32-2632-01	TCGA-32-2632-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261180.4:c.1057C>T	p.Arg353Ter	p.R353*	ENST00000261180	NM_013381.2	353	Cga/Tga	0			1			T	R/*	uc001sxa.2	protein_coding	YES	CCDS9004.1			1057/3075									ovary(2)|skin(1)	3	c.(1057-1059)CGA>TGA			Superfamily_domains:SSF55486,Pfam_domain:PF01433,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF40	thyrotropin-releasing hormone degrading enzyme				ENSP00000261180		19-Mar	8.24E-06					1.63E-05			rs770977159,COSM195385	19-Mar	.		ENST00000261180	Transcript			cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	ENSG00000072657	g.chr12:72771778C>T	30748			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,12,72771778,C,T&fts=all	R353*	--	--	1																																			0,1	1			p.R353*	NM_013381	NP_037513			0,1	TRHDE_HUMAN	TRHDE	HGNC	Q9UKU6	TRHDE_HUMAN					3	1087	+			UPI0000136D52	353			Extracellular (Potential).		SNV	TRHDE,stop_gained,p.Arg353Ter,ENST00000261180,NM_013381.2;TRHDE,intron_variant,,ENST00000547300,;TRHDE,non_coding_transcript_exon_variant,,ENST00000548156,;	uc001sxa.2	c.1057C>T	1153/5618	5	2			c.1057C>T						12	SNP	c.(1057-1059)CGA>TGA	45	45			ovary(2)|skin(1)	3	Broad	thyrotropin-releasing hormone degrading enzyme			72771778		0.308	ENSG00000072657	16229	g.chr12:72771778C>T	cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding							42.944459	KEEP	10	7	-1	25	22	10	7	-1	45.794752	25	22	0.274194	1	0	0	0	0	0	1	0	0	--	--		0	T				240	GBM-32-2632-TP	p.R353*	C	taattaGGTACGATTATATGC	NM_013381	NP_037513	72771778	Q9UKU6	TRHDE_HUMAN	0			3	1087	+	T	T			Nonsense_Mutation	353			Extracellular (Potential).			
TRHDE	29953		GRCh37	12	73014949	73014949	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000261180.4:c.2396T>A	p.Phe799Tyr	p.F799Y	ENST00000261180	NM_013381.2	799	tTt/tAt	0																																																																																																																																																																																																																																												
TRHDE	29953		GRCh37	12	72666636	72666636	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000261180.4:c.78A>G	p.Arg26=	p.R26=	ENST00000261180	NM_013381.2	26	cgA/cgG	0																																																																																																																																																																																																																																												
TRHDE	29953		GRCh37	12	72667155	72667155	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000261180.4:c.597G>A	p.Ala199=	p.A199=	ENST00000261180	NM_013381.2	199	gcG/gcA	0																																																																																																																																																																																																																																												
TRHR	0	broad.mit.edu	GRCh37	8	110131345	110131345	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311762.2:c.858G>A	p.Val286=	p.V286=	ENST00000311762	NM_003301.5	286	gtG/gtA	0			1			A	V	uc003ymz.3	protein_coding		CCDS6311.1			858/1197									skin(2)|lung(1)	3	c.(856-858)GTG>GTA			PROSITE_profiles:PS50262,hmmpanther:PTHR24243:SF115,hmmpanther:PTHR24243,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237	thyrotropin-releasing hormone receptor				ENSP00000309818		2-Feb									COSM3412676	2-Feb	.		ENST00000311762	Transcript	1			integral to plasma membrane	thyrotropin-releasing hormone receptor activity	ENSG00000174417	g.chr8:110131345G>A	12299			LOW								--	--	1																																			1				p.V286V	NM_003301	NP_003292			1	TRFR_HUMAN	TRHR	HGNC	P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)				2	874	+			UPI0000050437	286			Helical; Name=6; (Potential).		SNV	TRHR,synonymous_variant,p.=,ENST00000518632,;TRHR,synonymous_variant,p.=,ENST00000311762,NM_003301.5;	uc003ymz.3	c.858G>A	947/1415	2	2			c.858G>A						8	SNP	c.(856-858)GTG>GTA	43	43			skin(2)|lung(1)	3	Broad	thyrotropin-releasing hormone receptor			110131345		0.418	ENSG00000174417	16230	g.chr8:110131345G>A		integral to plasma membrane	thyrotropin-releasing hormone receptor activity							-90.568565	KEEP	8	20	-1	291	354	8	20	-1	46.138758	291	354	0.042693	1	0	0	0	0	0	0	1	0	--	--		0	A				160	GBM-19-1790-TP	p.V286V	G	GGACTCTAGTGGTTGTCAACT	NM_003301	NP_003292	110131345	P34981	TRFR_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		2	874	+	A	A			Silent	286			Helical; Name=6; (Potential).			
TRIB2	0	broad.mit.edu	GRCh37	2	12858629	12858629	+	synonymous_variant	Silent	SNP	T	T	C	rs144421263	byFrequency	TCGA-12-0618-01	TCGA-12-0618-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000155926.4:c.196T>C	p.Leu66=	p.L66=	ENST00000155926	NM_021643.3	66	Ttg/Ctg	0	C:0.0005	C:0.0008	1	C:0		C	L	uc002rbv.3	protein_coding	YES	CCDS1683.1			196/1032									stomach(1)	1	c.(196-198)TTG>CTG			PROSITE_profiles:PS50011,hmmpanther:PTHR22961,hmmpanther:PTHR22961:SF11,Gene3D:3.30.200.20,Superfamily_domains:SSF56112	tribbles homolog 2		C:0	C:0.0006	ENSP00000155926	C:0	3-Jan	0.00014	0.000192				0.00021		6.06E-05	rs144421263,COSM3406848	3-Jan	.		ENST00000155926	Transcript		C:0.0002	negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	ENSG00000071575	g.chr2:12858629T>C	30809			LOW								--	--	1																																OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	TRIB2_uc010yjp.1_Intron	0,1	1			p.L66L	NM_021643	NP_067675	C:0		0,1	TRIB2_HUMAN	TRIB2	HGNC	Q92519	TRIB2_HUMAN			F8WA18_HUMAN		1	1632	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		UPI0000051C55	66			Protein kinase.		SNV	TRIB2,synonymous_variant,p.=,ENST00000155926,NM_021643.3;TRIB2,synonymous_variant,p.=,ENST00000405331,;TRIB2,intron_variant,,ENST00000381465,;RP11-333O1.1,downstream_gene_variant,,ENST00000569860,;TRIB2,downstream_gene_variant,,ENST00000483034,;	uc002rbv.3	c.196T>C	1615/4391	3	3			c.196T>C						2	SNP	c.(196-198)TTG>CTG	52	52			stomach(1)	1	Broad	tribbles homolog 2			12858629		0.577	ENSG00000071575	16233	g.chr2:12858629T>C	negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			61			61	-36.490263	KEEP	1	2	-1	88	86	1	2	-1	6.623208	88	86	0.018182	1	0	0	0	0	0	0	1	0	--	--		0	C	OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	TRIB2_uc010yjp.1_Intron	119	GBM-12-0618-TP	p.L66L	T	GAAATACTTATTGTTGGAACC	NM_021643	NP_067675	12858629	Q92519	TRIB2_HUMAN	0			1	1632	+	C	C	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		Silent	66			Protein kinase.			
TRIM10	0	broad.mit.edu	GRCh37	6	30121907	30121907	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01	TCGA-28-2502-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449742.2:c.1285C>T	p.Arg429Trp	p.R429W	ENST00000449742	NM_006778.3	429	Cgg/Tgg	0			1			A	R/W	uc003npo.3	protein_coding	YES	CCDS34375.1			1285/1446										0	c.(1285-1287)CGG>TGG			PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF44,hmmpanther:PTHR24103,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899,Prints_domain:PR01407	tripartite motif-containing 10 isoform 1				ENSP00000397073		7-Jul	2.54E-05							0.000185	rs748972009,COSM3410894,COSM3410895	7-Jul	.		ENST00000449742	Transcript				cytoplasm	zinc ion binding	ENSG00000204613	g.chr6:30121907G>A	10072			MODERATE		2.985	medium	getma.org/?cm=msa&ty=f&p=TRI10_HUMAN&rb=362&re=480&var=R429W	getma.org/pdb.php?prot=TRI10_HUMAN&from=362&to=480&var=R429W	getma.org/?cm=var&var=hg19,6,30121907,G,A&fts=all	R429W	--	--	1																																		TRIM10_uc003npn.2_Intron	0,1,1	1		possibly_damaging(0.904)	p.R429W	NM_006778	NP_006769		tolerated(0.05)	0,1,1	TRI10_HUMAN	TRIM10	HGNC	Q9UDY6	TRI10_HUMAN					7	1361	-			UPI000000D736	429			B30.2/SPRY.		SNV	TRIM10,missense_variant,p.Arg429Trp,ENST00000449742,NM_006778.3;TRIM10,intron_variant,,ENST00000376704,NM_052828.2;	uc003npo.3	c.1285C>T	1361/3546	1	1			c.1285C>T						6	SNP	c.(1285-1287)CGG>TGG	49	49				0	Broad	tripartite motif-containing 10 isoform 1			30121907		0.642	ENSG00000204613	16236	g.chr6:30121907G>A		cytoplasm	zinc ion binding							6.21167	KEEP	3	3	-1	16	37	3	3	-1	14.037172	16	37	0.113208	1	0	0	0	0	1	0	0	0	--	--		0	A			TRIM10_uc003npn.2_Intron	210	GBM-28-2502-TP	p.R429W	G	CTCACCTGCCGGGGCTGCTCC	NM_006778	NP_006769	30121907	Q9UDY6	TRI10_HUMAN	0			7	1361	-	A	A			Missense_Mutation	429			B30.2/SPRY.			
TRIM10	0	broad.mit.edu	GRCh37	6	30126240	30126240	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01	TCGA-32-2495-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449742.2:c.692G>A	p.Arg231Gln	p.R231Q	ENST00000449742	NM_006778.3	231	cGg/cAg	0			1			T	R/Q	uc003npo.3	protein_coding	YES	CCDS34375.1			692/1446										0	c.(691-693)CGG>CAG			hmmpanther:PTHR24103:SF44,hmmpanther:PTHR24103	tripartite motif-containing 10 isoform 1				ENSP00000397073		7-Mar	1.69E-05	0.000109				1.58E-05			rs769895582,COSM3410896,COSM3410898,COSM3410897	7-Mar	.		ENST00000449742	Transcript				cytoplasm	zinc ion binding	ENSG00000204613	g.chr6:30126240C>T	10072			MODERATE		1.81	low	getma.org/?cm=msa&ty=f&p=TRI10_HUMAN&rb=136&re=311&var=R231Q	NA	getma.org/?cm=var&var=hg19,6,30126240,C,T&fts=all	R231Q	--	--	1																																		TRIM10_uc003npn.2_Missense_Mutation_p.R231Q	0,1,1,1	1		probably_damaging(0.997)	p.R231Q	NM_006778	NP_006769		deleterious(0.04)	0,1,1,1	TRI10_HUMAN	TRIM10	HGNC	Q9UDY6	TRI10_HUMAN					3	768	-			UPI000000D736	231					SNV	TRIM10,missense_variant,p.Arg231Gln,ENST00000449742,NM_006778.3;TRIM10,missense_variant,p.Arg231Gln,ENST00000376704,NM_052828.2;TRIM15,upstream_gene_variant,,ENST00000376694,NM_033229.2;	uc003npo.3	c.692G>A	768/3546	2	2			c.692G>A						6	SNP	c.(691-693)CGG>CAG	35	35				0	Broad	tripartite motif-containing 10 isoform 1			30126240		0.542	ENSG00000204613	16236	g.chr6:30126240C>T		cytoplasm	zinc ion binding							1560.433804	KEEP	209	260	-1	61	62	209	260	-1	1605.765897	61	62	0.797101	1	0	0	0	0	1	0	0	0	--	--		0	T			TRIM10_uc003npn.2_Missense_Mutation_p.R231Q	237	GBM-32-2495-TP	p.R231Q	C	AGCACTAAACCGGCAGATCTC	NM_006778	NP_006769	30126240	Q9UDY6	TRI10_HUMAN	0			3	768	-	T	T			Missense_Mutation	231						
TRIM10	0	broad.mit.edu	GRCh37	6	30126364	30126364	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01	TCGA-41-5651-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449742.2:c.568G>A	p.Ala190Thr	p.A190T	ENST00000449742	NM_006778.3	190	Gca/Aca	0			1			T	A/T	uc003npo.3	protein_coding	YES	CCDS34375.1			568/1446										0	c.(568-570)GCA>ACA			hmmpanther:PTHR24103:SF44,hmmpanther:PTHR24103	tripartite motif-containing 10 isoform 1				ENSP00000397073		7-Mar									COSM3410899,COSM3410900,COSM247973	7-Mar	.		ENST00000449742	Transcript				cytoplasm	zinc ion binding	ENSG00000204613	g.chr6:30126364C>T	10072			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=TRI10_HUMAN&rb=136&re=311&var=A190T	NA	getma.org/?cm=var&var=hg19,6,30126364,C,T&fts=all	A190T	--	--	1																																		TRIM10_uc003npn.2_Missense_Mutation_p.A190T	1,1,1	1		benign(0.005)	p.A190T	NM_006778	NP_006769		tolerated(0.39)	1,1,1	TRI10_HUMAN	TRIM10	HGNC	Q9UDY6	TRI10_HUMAN					3	644	-			UPI000000D736	190					SNV	TRIM10,missense_variant,p.Ala190Thr,ENST00000449742,NM_006778.3;TRIM10,missense_variant,p.Ala190Thr,ENST00000376704,NM_052828.2;TRIM15,upstream_gene_variant,,ENST00000376694,NM_033229.2;	uc003npo.3	c.568G>A	644/3546	2	2			c.568G>A						6	SNP	c.(568-570)GCA>ACA	28	28				0	Broad	tripartite motif-containing 10 isoform 1			30126364		0.512	ENSG00000204613	16236	g.chr6:30126364C>T		cytoplasm	zinc ion binding							-58.601072	KEEP	4	1	-1	114	167	4	1	-1	8.57963	114	167	0.019305	1	0	0	0	0	1	0	0	0	--	--		0	T			TRIM10_uc003npn.2_Missense_Mutation_p.A190T	258	GBM-41-5651-TP	p.A190T	C	CTCAGGTGTGCGAACTCAGAA	NM_006778	NP_006769	30126364	Q9UDY6	TRI10_HUMAN	0			3	644	-	T	T			Missense_Mutation	190						
TRIM11	0	broad.mit.edu	GRCh37	1	228582635	228582635	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2634-01	TCGA-32-2634-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284551.6:c.1178C>T	p.Ala393Val	p.A393V	ENST00000284551	NM_145214.2	393	gCc/gTc	0			1			A	A/V	uc001hss.2	protein_coding	YES	CCDS31048.1			1178/1407									lung(3)|ovary(1)	4	c.(1177-1179)GCC>GTC			Low_complexity_(Seg):seg,PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF254,hmmpanther:PTHR24103,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899	tripartite motif-containing 11				ENSP00000284551		6-Jun									COSM3400443	6-Jun	.		ENST00000284551	Transcript			response to virus	cytoplasm|nucleus	protein binding|zinc ion binding	ENSG00000154370	g.chr1:228582635G>A	16281			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=TRI11_HUMAN&rb=339&re=458&var=A393V	getma.org/pdb.php?prot=TRI11_HUMAN&from=339&to=458&var=A393V	getma.org/?cm=var&var=hg19,1,228582635,G,A&fts=all	A393V	--	--	1																																		TRIM11_uc010pvx.1_Missense_Mutation_p.A392V	1	1		benign(0.297)	p.A393V	NM_145214	NP_660215		tolerated(0.09)	1	TRI11_HUMAN	TRIM11	HGNC	Q96F44	TRI11_HUMAN					6	1433	-		Prostate(94;0.0724)	UPI000005340A	393			B30.2/SPRY.		SNV	TRIM11,missense_variant,p.Ala268Val,ENST00000493030,;TRIM11,missense_variant,p.Ala393Val,ENST00000284551,NM_145214.2;TRIM11,missense_variant,p.Ala192Val,ENST00000602582,;TRIM11,downstream_gene_variant,,ENST00000366699,;TRIM11,downstream_gene_variant,,ENST00000602308,;RP11-245P10.8,intron_variant,,ENST00000602963,;TRIM11,non_coding_transcript_exon_variant,,ENST00000460651,;TRIM11,downstream_gene_variant,,ENST00000475775,;	uc001hss.2	c.1178C>T	1457/2715	2	2			c.1178C>T						1	SNP	c.(1177-1179)GCC>GTC	25	25			lung(3)|ovary(1)	4	Broad	tripartite motif-containing 11			228582635		0.597	ENSG00000154370	16237	g.chr1:228582635G>A	response to virus	cytoplasm|nucleus	protein binding|zinc ion binding							172.554761	KEEP	32	34	-1	40	40	32	34	-1	172.878587	40	40	0.446154	1	0	0	0	0	1	0	0	0	--	--		0	A			TRIM11_uc010pvx.1_Missense_Mutation_p.A392V	241	GBM-32-2634-TP	p.A393V	G	TGGAGCCAAGGCCCGTTCCGA	NM_145214	NP_660215	228582635	Q96F44	TRI11_HUMAN	0			6	1433	-	A	A		Prostate(94;0.0724)	Missense_Mutation	393			B30.2/SPRY.			
TRIM14	0	broad.mit.edu	GRCh37	9	100857227	100857227	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149392923		TCGA-26-5136-01	TCGA-26-5136-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341469.2:c.622G>A	p.Val208Ile	p.V208I	ENST00000341469	NM_014788.2	208	Gtc/Atc	0	T:0.0002		1			T	V/I	uc004ayd.2	protein_coding	YES	CCDS6734.1			622/1329									central_nervous_system(1)	1	c.(622-624)GTC>ATC			hmmpanther:PTHR24103:SF35,hmmpanther:PTHR24103	tripartite motif protein TRIM14 isoform alpha			T:0.0003	ENSP00000344208		6-Apr	0.000148	0.000192		0.000116	0.000151	0.000165	0.00221	6.06E-05	rs149392923,COSM1103095	6-Apr	.		ENST00000341469	Transcript				cytoplasm|intracellular	zinc ion binding	ENSG00000106785	g.chr9:100857227C>T	16283			MODERATE		1.32	low	getma.org/?cm=msa&ty=f&p=TRI14_HUMAN&rb=62&re=261&var=V208I	NA	getma.org/?cm=var&var=hg19,9,100857227,C,T&fts=all	V208I	--	--	1																																		TRIM14_uc004ayf.1_Missense_Mutation_p.V115I|TRIM14_uc011luz.1_5'Flank|TRIM14_uc011lva.1_5'Flank|TRIM14_uc004ayg.1_Missense_Mutation_p.V208I|TRIM14_uc004ayh.1_Missense_Mutation_p.V208I|TRIM14_uc004ayi.1_Missense_Mutation_p.V208I|TRIM14_uc004ayj.1_Missense_Mutation_p.V115I	0,1	1		benign(0.003)	p.V208I	NM_033220	NP_150089		tolerated(0.48)	0,1	TRI14_HUMAN	TRIM14	HGNC	Q14142	TRI14_HUMAN					4	640	-		Acute lymphoblastic leukemia(62;0.0559)	UPI0000137065	208					SNV	TRIM14,missense_variant,p.Val208Ile,ENST00000341469,NM_014788.2;TRIM14,missense_variant,p.Val208Ile,ENST00000375098,NM_033220.1;TRIM14,missense_variant,p.Val208Ile,ENST00000342043,NM_033219.1;TRIM14,upstream_gene_variant,,ENST00000538344,;TRIM14,non_coding_transcript_exon_variant,,ENST00000478401,;TRIM14,3_prime_UTR_variant,,ENST00000475147,;	uc004ayd.2	c.622G>A	632/4454	2	2			c.622G>A						9	SNP	c.(622-624)GTC>ATC	18	18			central_nervous_system(1)	1	Broad	tripartite motif protein TRIM14 isoform alpha			100857227		0.582	ENSG00000106785	16239	g.chr9:100857227C>T		cytoplasm|intracellular	zinc ion binding	Colon(14;460 597 13826 51781)			Colon(14;460 597 13826 51781)			-43.163676	KEEP	1	3	-1	113	104	1	3	-1	6.470847	113	104	0.020725	1	0	0	0	0	1	0	0	0	--	--		0	T			TRIM14_uc004ayf.1_Missense_Mutation_p.V115I|TRIM14_uc011luz.1_5'Flank|TRIM14_uc011lva.1_5'Flank|TRIM14_uc004ayg.1_Missense_Mutation_p.V208I|TRIM14_uc004ayh.1_Missense_Mutation_p.V208I|TRIM14_uc004ayi.1_Missense_Mutation_p.V208I|TRIM14_uc004ayj.1_Missense_Mutation_p.V115I	185	GBM-26-5136-TP	p.V208I	C	AAGCTCTTGACGGGCTCAAAG	NM_033220	NP_150089	100857227	Q14142	TRI14_HUMAN	0			4	640	-	T	T		Acute lymphoblastic leukemia(62;0.0559)	Missense_Mutation	208						
TRIM15	0	broad.mit.edu	GRCh37	6	30131441	30131441	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T			TCGA-26-5134-01	TCGA-26-5134-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376694.4:c.-21C>T		*7*	ENST00000376694	NM_033229.2			0			1			T		uc010jrx.2	protein_coding	YES	CCDS4677.1			-/1398										0	c.(-22--18)GACGG>GATGG				tripartite motif protein 15				ENSP00000365884		7-Jan										7-Jan	.		ENST00000376694	Transcript			mesodermal cell fate determination	intracellular	zinc ion binding	ENSG00000204610	g.chr6:30131441C>T	16284			MODIFIER								--	--	1																																		TRIM10_uc003npn.2_5'Flank|TRIM10_uc003npo.3_5'Flank		1				NM_033229	NP_150232				TRI15_HUMAN	TRIM15	HGNC	Q9C019	TRI15_HUMAN			Q5SRL0_HUMAN		1	459	+			UPI0000137066						SNV	TRIM15,5_prime_UTR_variant,,ENST00000376694,NM_033229.2;TRIM10,upstream_gene_variant,,ENST00000449742,NM_006778.3;TRIM10,upstream_gene_variant,,ENST00000376704,NM_052828.2;TRIM15,upstream_gene_variant,,ENST00000433744,;TRIM15,upstream_gene_variant,,ENST00000376688,;	uc010jrx.2	c.-20C>T	449/2214	1	1			c.-20C>T						6	SNP	c.(-22--18)GACGG>GATGG	8	8				0	Broad	tripartite motif protein 15			30131441		0.602	ENSG00000204610	16240	g.chr6:30131441C>T	mesodermal cell fate determination	intracellular	zinc ion binding							35.090704	KEEP	6	13	-1	18	20	6	13	-1	36.887683	18	20	0.3	1	0	0	0	0	0	0	0	0	--	--		0	T			TRIM10_uc003npn.2_5'Flank|TRIM10_uc003npo.3_5'Flank	183	GBM-26-5134-TP		C	CCGGAGTGGACGGGCTGGGGA	NM_033229	NP_150232	30131441	Q9C019	TRI15_HUMAN	0			1	459	+	T	T			Translation_Start_Site							
TRIM2	23321		GRCh37	4	154215581	154215581	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000338700.5:c.730G>A	p.Val244Met	p.V244M	ENST00000338700	NM_015271.3	244	Gtg/Atg	0																																																																																																																																																																																																																																												
TRIM21	0	broad.mit.edu	GRCh37	11	4409705	4409705	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-14-3476-01	TCGA-14-3476-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254436.7:c.560delA	p.Asn187ThrfsTer22	p.N187Tfs*22	ENST00000254436	NM_003141.3	187	aAc/ac	0			1			-	N/X	uc001lyy.1	protein_coding	YES	CCDS44525.1			560/1428									ovary(3)|lung(1)	4	c.(559-561)AACfs			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24103:SF46,hmmpanther:PTHR24103	tripartite motif protein 21				ENSP00000254436		7-Apr										7-Apr	.		ENST00000254436	Transcript			cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000132109	g.chr11:4409705delT	11312			HIGH								--	--	1																																				1			p.N187fs	NM_003141	NP_003132				RO52_HUMAN	TRIM21	HGNC	P19474	RO52_HUMAN		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)			4	673	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	UPI000013450B	187			Potential.		deletion	TRIM21,frameshift_variant,p.Asn187ThrfsTer22,ENST00000254436,NM_003141.3;TRIM21,frameshift_variant,p.Asn187ThrfsTer22,ENST00000543625,;TRIM21,upstream_gene_variant,,ENST00000533692,;	uc001lyy.1	c.560delA	673/1924	5	5			c.560delA						11	DEL	c.(559-561)AACfs	28	28			ovary(3)|lung(1)	4	Broad	tripartite motif protein 21			4409705		0.483	ENSG00000132109	16245	g.chr11:4409705delT	cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding																				0.01	1	1	0	1	0	0	0	0	0	--	--		0	-				151	GBM-14-3476-TP	p.N187fs	T	AACCAGGAAGTTTTTTTGCTG	NM_003141	NP_003132	4409705	P19474	RO52_HUMAN	0		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)	4	673	-	-	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	Frame_Shift_Del	187			Potential.			
TRIM21	0	broad.mit.edu	GRCh37	11	4406616	4406616	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01	TCGA-76-6192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254436.7:c.1327C>T	p.Arg443Trp	p.R443W	ENST00000254436	NM_003141.3	443	Cgg/Tgg	0			1			A	R/W	uc001lyy.1	protein_coding	YES	CCDS44525.1			1327/1428									ovary(3)|lung(1)	4	c.(1327-1329)CGG>TGG			PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF46,hmmpanther:PTHR24103,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899,Prints_domain:PR01407	tripartite motif protein 21				ENSP00000254436		7-Jul	2.48E-05				0.000153	3.04E-05			rs777735629,COSM3397681,COSM3397680	7-Jul	.		ENST00000254436	Transcript			cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000132109	g.chr11:4406616G>A	11312			MODERATE		1.6	low	getma.org/?cm=msa&ty=f&p=RO52_HUMAN&rb=339&re=466&var=R443W	getma.org/pdb.php?prot=RO52_HUMAN&from=339&to=466&var=R443W	getma.org/?cm=var&var=hg19,11,4406616,G,A&fts=all	R443W	--	--	1																																			0,1,1	1		probably_damaging(1)	p.R443W	NM_003141	NP_003132		tolerated(0.18)	0,1,1	RO52_HUMAN	TRIM21	HGNC	P19474	RO52_HUMAN		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)			7	1440	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	UPI000013450B	443			B30.2/SPRY.		SNV	TRIM21,missense_variant,p.Arg443Trp,ENST00000254436,NM_003141.3;TRIM21,missense_variant,p.Arg443Trp,ENST00000543625,;TRIM21,synonymous_variant,p.=,ENST00000533692,;	uc001lyy.1	c.1327C>T	1440/1924	2	2			c.1327C>T						11	SNP	c.(1327-1329)CGG>TGG	20	20			ovary(3)|lung(1)	4	Broad	tripartite motif protein 21			4406616		0.488	ENSG00000132109	16245	g.chr11:4406616G>A	cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding							1.098717	KEEP	0	3	-1	23	11	0	3	-1	6.667546	23	11	0.090909	1	0	0	0	0	1	0	0	0	--	--		0	A				275	GBM-76-6192-TP	p.R443W	G	AAGAAGGGCCGCAGAGGTCCT	NM_003141	NP_003132	4406616	P19474	RO52_HUMAN	0		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)	7	1440	-	A	A		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	Missense_Mutation	443			B30.2/SPRY.			
TRIM21	6737		GRCh37	11	4410895	4410895	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000254436.7:c.493G>T	p.Ala165Ser	p.A165S	ENST00000254436	NM_003141.3	165	Gca/Tca	0																																																																																																																																																																																																																																												
TRIM22	0	broad.mit.edu	GRCh37	11	5730417	5730417	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2638-01	TCGA-32-2638-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379965.3:c.1036G>A	p.Gly346Ser	p.G346S	ENST00000379965	NM_001199573.1	346	Ggc/Agc	0	A:0		1			A	G/S	uc001mbr.2	protein_coding	YES	CCDS41612.1			1036/1497										0	c.(1036-1038)GGC>AGC			PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF265,Superfamily_domains:SSF49899,Prints_domain:PR01407	tripartite motif-containing 22			A:0.0001	ENSP00000369299		8-Aug	8.28E-06					1.50E-05			rs371728648,COSM3397878	8-Aug	.		ENST00000379965	Transcript			immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	ENSG00000132274	g.chr11:5730417G>A	16379			MODERATE		3.015	medium	getma.org/?cm=msa&ty=f&p=TRI22_HUMAN&rb=283&re=498&var=G346S	getma.org/pdb.php?prot=TRI22_HUMAN&from=283&to=498&var=G346S	getma.org/?cm=var&var=hg19,11,5730417,G,A&fts=all	G346S	--	--	1																																		TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|TRIM22_uc009yes.2_Missense_Mutation_p.G342S|TRIM22_uc010qzm.1_Missense_Mutation_p.G174S|TRIM22_uc009yeu.2_Missense_Mutation_p.G157S|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	0,1	1		possibly_damaging(0.872)	p.G346S	NM_006074	NP_006065		deleterious(0.01)	0,1	TRI22_HUMAN	TRIM22	HGNC	Q8IYM9	TRI22_HUMAN		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)	C9JIU5_HUMAN,C9J060_HUMAN		8	1313	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	UPI0000074222	346			B30.2/SPRY.		SNV	TRIM22,missense_variant,p.Gly346Ser,ENST00000379965,NM_001199573.1,NM_006074.4;TRIM5,intron_variant,,ENST00000380027,;TRIM22,intron_variant,,ENST00000444844,;TRIM22,intron_variant,,ENST00000429063,;TRIM5,intron_variant,,ENST00000412903,;TRIM22,intron_variant,,ENST00000450670,;TRIM22,downstream_gene_variant,,ENST00000454828,;TRIM22,non_coding_transcript_exon_variant,,ENST00000480395,;TRIM22,non_coding_transcript_exon_variant,,ENST00000493494,;TRIM22,downstream_gene_variant,,ENST00000414897,;	uc001mbr.2	c.1036G>A	1313/2989	2	2			c.1036G>A						11	SNP	c.(1036-1038)GGC>AGC	19	19				0	Broad	tripartite motif-containing 22			5730417		0.408	ENSG00000132274	16246	g.chr11:5730417G>A	immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	GBM(104;491 2336 5222)			GBM(104;491 2336 5222)			116.105107	KEEP	25	20	-1	65	32	25	20	-1	119.082553	65	32	0.336	1	0	0	0	0	1	0	0	0	--	--		0	A			TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|TRIM22_uc009yes.2_Missense_Mutation_p.G342S|TRIM22_uc010qzm.1_Missense_Mutation_p.G174S|TRIM22_uc009yeu.2_Missense_Mutation_p.G157S|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	242	GBM-32-2638-TP	p.G346S	G	TGGTGTCTTCGGCTGCCAATA	NM_006074	NP_006065	5730417	Q8IYM9	TRI22_HUMAN	0		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)	8	1313	+	A	A		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	Missense_Mutation	346			B30.2/SPRY.			
TRIM23	373	broad.mit.edu	GRCh37	5	64887666	64887666	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs150920611		TCGA-06-0219-01	TCGA-06-0219-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000231524.9:c.1655T>C	p.Met552Thr	p.M552T	ENST00000231524	NM_001656.3	552	aTg/aCg	0	G:0.0002		1			G	M/T	uc003jty.2	protein_coding	YES	CCDS3987.1			1655/1725									ovary(3)|lung(1)	4	c.(1654-1656)ATG>ACG			Gene3D:3.40.50.300,Pfam_domain:PF00025,PROSITE_profiles:PS51417,hmmpanther:PTHR11711,hmmpanther:PTHR11711:SF131,SMART_domains:SM00175,SMART_domains:SM00177,SMART_domains:SM00178,Superfamily_domains:SSF52540	ADP-ribosylation factor domain protein 1 isoform			G:0	ENSP00000231524		11-Nov	8.24E-06	9.63E-05							rs150920611,COSM2150966,COSM3410342	11-Nov	.		ENST00000231524	Transcript			interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000113595	g.chr5:64887666A>G	660			MODERATE		-0.85	neutral	getma.org/?cm=msa&ty=f&p=TRI23_HUMAN&rb=391&re=565&var=M552T	getma.org/pdb.php?prot=TRI23_HUMAN&from=391&to=565&var=M552T	getma.org/?cm=var&var=hg19,5,64887666,A,G&fts=all	M552T	--	--	1																																		TRIM23_uc003jtw.2_Intron|TRIM23_uc003jtx.2_Intron	0,1,1	1		benign(0)	p.M552T	NM_001656	NP_001647		tolerated(0.65)	0,1,1	TRI23_HUMAN	TRIM23	HGNC	P36406	TRI23_HUMAN		Lung(70;0.00473)	D6R9E9_HUMAN		11	1741	-		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)	UPI0000125DB3	552			ARF-like.		SNV	TRIM23,missense_variant,p.Met552Thr,ENST00000231524,NM_001656.3;TRIM23,splice_region_variant,,ENST00000381018,NM_033227.2;TRIM23,intron_variant,,ENST00000274327,NM_033228.2;PPWD1,downstream_gene_variant,,ENST00000261308,NM_001278927.1,NM_015342.3;PPWD1,downstream_gene_variant,,ENST00000535264,NM_001278926.1;PPWD1,downstream_gene_variant,,ENST00000538977,NM_001278929.1;PPWD1,downstream_gene_variant,,ENST00000510930,;PPWD1,downstream_gene_variant,,ENST00000511908,;PPWD1,downstream_gene_variant,,ENST00000513773,;	uc003jty.2	c.1655T>C	2027/4186	4	4			c.1655T>C						5	SNP	c.(1654-1656)ATG>ACG	24	24			ovary(3)|lung(1)	4	Broad	ADP-ribosylation factor domain protein 1 isoform			64887666		0.458	ENSG00000113595	16247	g.chr5:64887666A>G	interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding							141.132701	KEEP	28	27	-1	51	54	28	27	-1	144.026308	51	54	0.347518	1	0	0	0	0	1	0	0	0	--	--		0	G			TRIM23_uc003jtw.2_Intron|TRIM23_uc003jtx.2_Intron	52	GBM-06-0219-TP	p.M552T	A	ATACAGTCCCATACCACTTCG	NM_001656	NP_001647	64887666	P36406	TRI23_HUMAN	0		Lung(70;0.00473)	11	1741	-	G	G		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)	Missense_Mutation	552			ARF-like.			
TRIM24	8805	broad.mit.edu	GRCh37	7	138235836	138235836	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0171-01	TCGA-06-0171-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343526.4:c.1172G>A	p.Arg391His	p.R391H	ENST00000343526		391	cGt/cAt	0			1			A	R/H	uc003vuc.2	protein_coding	YES	CCDS5847.1			1172/3153								p.R391H(1)	central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8	c.(1171-1173)CGT>CAT			hmmpanther:PTHR24103:SF136,hmmpanther:PTHR24103,SMART_domains:SM00502	transcriptional intermediary factor 1 alpha				ENSP00000340507		19-Aug	8.24E-06					1.50E-05			rs770786278,COSM2150337,COSM35821,COSM2150338	19-Aug	.		ENST00000343526	Transcript	1		cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000122779	g.chr7:138235836G>A	11812			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=TIF1A_HUMAN&rb=260&re=459&var=R391H	NA	getma.org/?cm=var&var=hg19,7,138235836,G,A&fts=all	R391H	--	--	1																																		TRIM24_uc003vub.2_Missense_Mutation_p.R391H	0,1,1,1	1		possibly_damaging(0.635)	p.R391H	NM_015905	NP_056989		deleterious(0)	0,1,1,1	TIF1A_HUMAN	TRIM24	HGNC	O15164	TIF1A_HUMAN			B4DYZ9_HUMAN		8	1387	+			UPI00000012CB	391					SNV	TRIM24,missense_variant,p.Arg391His,ENST00000343526,;TRIM24,missense_variant,p.Arg391His,ENST00000415680,NM_015905.2,NM_003852.3;TRIM24,non_coding_transcript_exon_variant,,ENST00000497516,;TRIM24,upstream_gene_variant,,ENST00000493595,;	uc003vuc.2	c.1172G>A	1387/8410	1	1			c.1172G>A						7	SNP	c.(1171-1173)CGT>CAT	58	58		p.R391H(1)	central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8	Broad	transcriptional intermediary factor 1 alpha			138235836		0.398	ENSG00000122779	16248	g.chr7:138235836G>A	cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)		258	Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)		258	158.940792	KEEP	31	37	-1	97	70	31	37	-1	167.994343	97	70	0.280952	1	0	0	0	0	1	0	0	0	--	--		0	A			TRIM24_uc003vub.2_Missense_Mutation_p.R391H	35	GBM-06-0171-TP	p.R391H	G	CACCTCCTTCGTGCAAGGTGT	NM_015905	NP_056989	138235836	O15164	TIF1A_HUMAN	0			8	1387	+	A	A			Missense_Mutation	391						
TRIM26	0	broad.mit.edu	GRCh37	6	30153775	30153775	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-41-2572-01	TCGA-41-2572-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000454678.2:c.1498G>T	p.Val500Leu	p.V500L	ENST00000454678	NM_003449.4	500	Gtg/Ttg	0			1			A	V/L	uc003npr.2	protein_coding	YES	CCDS4678.1			1498/1620									ovary(2)|lung(1)	3	c.(1498-1500)GTG>TTG			PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF277,hmmpanther:PTHR24103,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899,Prints_domain:PR01407	tripartite motif-containing 26				ENSP00000410446		10-Oct									COSM3410903,COSM3410902	10-Oct	.		ENST00000454678	Transcript					DNA binding|zinc ion binding	ENSG00000234127	g.chr6:30153775C>A	12962			MODERATE		1.225	low	getma.org/?cm=msa&ty=f&p=TRI26_HUMAN&rb=423&re=538&var=V500L	getma.org/pdb.php?prot=TRI26_HUMAN&from=423&to=538&var=V500L	getma.org/?cm=var&var=hg19,6,30153775,C,A&fts=all	V500L	--	--	1																																		TRIM26_uc003nps.2_Missense_Mutation_p.V500L|TRIM26_uc010jry.2_Missense_Mutation_p.V230L|TRIM26_uc003npt.2_Missense_Mutation_p.V500L	1,1	1		unknown(0)	p.V500L	NM_003449	NP_003440		deleterious(0)	1,1	TRI26_HUMAN	TRIM26	HGNC	Q12899	TRI26_HUMAN			Q5SPU2_HUMAN,A2AE50_HUMAN,A2AE48_HUMAN		9	1707	-			UPI0000001C20	500			B30.2/SPRY.		SNV	TRIM26,missense_variant,p.Val500Leu,ENST00000454678,NM_003449.4;TRIM26,missense_variant,p.Val500Leu,ENST00000453195,NM_001242783.1;TRIM26,missense_variant,p.Val500Leu,ENST00000437089,;TRIM26,non_coding_transcript_exon_variant,,ENST00000480999,;PAIP1P1,downstream_gene_variant,,ENST00000446875,;	uc003npr.2	c.1498G>T	1935/3478	1	1			c.1498G>T						6	SNP	c.(1498-1500)GTG>TTG	56	56			ovary(2)|lung(1)	3	Broad	tripartite motif-containing 26			30153775		0.627	ENSG00000234127	16250	g.chr6:30153775C>A			DNA binding|zinc ion binding							-1.912756	KEEP	2	1	0.333333333	22	25	2	1	0.333333333	7.931508	22	25	0.061224	1	0	0	0	0	1	0	0	0	--	--		0	A			TRIM26_uc003nps.2_Missense_Mutation_p.V500L|TRIM26_uc010jry.2_Missense_Mutation_p.V230L|TRIM26_uc003npt.2_Missense_Mutation_p.V500L	251	GBM-41-2572-TP	p.V500L	C	GTGAAAGTCACGGTGCCCCCT	NM_003449	NP_003440	30153775	Q12899	TRI26_HUMAN	0			9	1707	-	A	A			Missense_Mutation	500			B30.2/SPRY.			
TRIM29	23650	broad.mit.edu	GRCh37	11	120008709	120008709	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01	TCGA-06-0195-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341846.5:c.31G>A	p.Gly11Arg	p.G11R	ENST00000341846	NM_012101.3	11	Ggg/Agg	0			1			T	G/R	uc001pwz.2	protein_coding	YES	CCDS8428.1			31/1767									ovary(1)|breast(1)|kidney(1)|skin(1)	4	c.(31-33)GGG>AGG				tripartite motif protein TRIM29				ENSP00000343129		9-Jan									COSM2107183	9-Jan	.		ENST00000341846	Transcript			transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000137699	g.chr11:120008709C>T	17274			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=TRI29_HUMAN&rb=1&re=139&var=G11R	NA	getma.org/?cm=var&var=hg19,11,120008709,C,T&fts=all	G11R	--	--	1																																		TRIM29_uc001pxa.2_RNA	1	1		possibly_damaging(0.872)	p.G11R	NM_012101	NP_036233		deleterious_low_confidence(0)	1	TRI29_HUMAN	TRIM29	HGNC	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	E9PM74_HUMAN,E9PLI4_HUMAN,E9PJ94_HUMAN,E9PIQ2_HUMAN,E9PI31_HUMAN,B7Z5V8_HUMAN		1	155	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	UPI0000073FDE	11					SNV	TRIM29,missense_variant,p.Gly11Arg,ENST00000341846,NM_012101.3;TRIM29,missense_variant,p.Gly11Arg,ENST00000532833,;TRIM29,missense_variant,p.Gly11Arg,ENST00000529495,;TRIM29,missense_variant,p.Gly11Arg,ENST00000529040,;TRIM29,missense_variant,p.Gly11Arg,ENST00000529011,;TRIM29,missense_variant,p.Gly11Arg,ENST00000475051,;	uc001pwz.2	c.31G>A	453/3328	1	1			c.31G>A						11	SNP	c.(31-33)GGG>AGG	7	7			ovary(1)|breast(1)|kidney(1)|skin(1)	4	Broad	tripartite motif protein TRIM29			120008709		0.632	ENSG00000137699	16253	g.chr11:120008709C>T	transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							-5.107859	KEEP	9	11	-1	119	110	9	11	-1	34.069315	119	110	0.072115	1	0	0	0	0	1	0	0	0	--	--		0	T			TRIM29_uc001pxa.2_RNA	45	GBM-06-0195-TP	p.G11R	C	GGGCTCGACCCGTTGCTCCTG	NM_012101	NP_036233	120008709	Q14134	TRI29_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	1	155	-	T	T		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	Missense_Mutation	11						
TRIM29	23650	broad.mit.edu	GRCh37	11	120008271	120008271	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0211-01	TCGA-06-0211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341846.5:c.469G>A	p.Asp157Asn	p.D157N	ENST00000341846	NM_012101.3	157	Gac/Aac	0			1			T	D/N	uc001pwz.2	protein_coding	YES	CCDS8428.1			469/1767									ovary(1)|breast(1)|kidney(1)|skin(1)	4	c.(469-471)GAC>AAC				tripartite motif protein TRIM29				ENSP00000343129		9-Jan	8.24E-06					1.54E-05			rs769401812,COSM2150730	9-Jan	.		ENST00000341846	Transcript			transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000137699	g.chr11:120008271C>T	17274			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=TRI29_HUMAN&rb=140&re=219&var=D157N	getma.org/pdb.php?prot=TRI29_HUMAN&from=140&to=219&var=D157N	getma.org/?cm=var&var=hg19,11,120008271,C,T&fts=all	D157N	--	--	1																																		TRIM29_uc001pxa.2_RNA	0,1	1		benign(0.007)	p.D157N	NM_012101	NP_036233		tolerated(0.37)	0,1	TRI29_HUMAN	TRIM29	HGNC	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	E9PM74_HUMAN,E9PLI4_HUMAN,E9PJ94_HUMAN,E9PIQ2_HUMAN,E9PI31_HUMAN,B7Z5V8_HUMAN		1	593	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	UPI0000073FDE	157					SNV	TRIM29,missense_variant,p.Asp157Asn,ENST00000341846,NM_012101.3;TRIM29,downstream_gene_variant,,ENST00000532833,;TRIM29,downstream_gene_variant,,ENST00000529495,;TRIM29,downstream_gene_variant,,ENST00000529040,;TRIM29,downstream_gene_variant,,ENST00000529011,;TRIM29,missense_variant,p.Arg106Gln,ENST00000475051,;	uc001pwz.2	c.469G>A	891/3328	2	2			c.469G>A						11	SNP	c.(469-471)GAC>AAC	17	17			ovary(1)|breast(1)|kidney(1)|skin(1)	4	Broad	tripartite motif protein TRIM29			120008271		0.642	ENSG00000137699	16253	g.chr11:120008271C>T	transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							211.339984	KEEP	46	44	-1	66	50	46	44	-1	212.064655	66	50	0.430233	1	0	0	0	0	1	0	0	0	--	--		0	T			TRIM29_uc001pxa.2_RNA	48	GBM-06-0211-TP	p.D157N	C	AGGCCCGTGTCGGCCCGGGGG	NM_012101	NP_036233	120008271	Q14134	TRI29_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	1	593	-	T	T		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	Missense_Mutation	157						
TRIM3	0	broad.mit.edu	GRCh37	11	6470405	6470405	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-15-0742-01	TCGA-15-0742-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000345851.3:c.2088C>G	p.Phe696Leu	p.F696L	ENST00000345851	NM_033278.3	696	ttC/ttG	0			1			C	F/L	uc001mdh.2	protein_coding		CCDS7764.1			2088/2235									central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1)	5	c.(2086-2088)TTC>TTG			PROSITE_profiles:PS51125,hmmpanther:PTHR24103:SF1,hmmpanther:PTHR24103,Gene3D:2.120.10.30,Pfam_domain:PF01436,Superfamily_domains:SSF101898	tripartite motif-containing 3				ENSP00000340797		12-Dec									COSM3398033	12-Dec	.		ENST00000345851	Transcript			nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	ENSG00000110171	g.chr11:6470405G>C	10064			MODERATE		2.19	medium	getma.org/?cm=msa&ty=f&p=TRIM3_HUMAN&rb=649&re=716&var=F696L	getma.org/pdb.php?prot=TRIM3_HUMAN&from=669&to=696&var=F696L	getma.org/?cm=var&var=hg19,11,6470405,G,C&fts=all	F696L	--	--	1																																		TRIM3_uc001mdi.2_Missense_Mutation_p.F696L|TRIM3_uc010raj.1_Missense_Mutation_p.F577L|TRIM3_uc009yfd.2_Missense_Mutation_p.F696L	1			benign(0.093)	p.F696L	NM_006458	NP_006449		deleterious(0.01)	1	TRIM3_HUMAN	TRIM3	HGNC	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	E9PMW5_HUMAN,E9PMK8_HUMAN,D3DQT3_HUMAN,B3KV53_HUMAN		13	2475	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	UPI000013C8BA	696			NHL 5.		SNV	TRIM3,missense_variant,p.Phe696Leu,ENST00000525074,NM_001248006.1;TRIM3,missense_variant,p.Phe696Leu,ENST00000359518,NM_006458.3;TRIM3,missense_variant,p.Phe696Leu,ENST00000345851,NM_033278.3;TRIM3,missense_variant,p.Phe618Leu,ENST00000537602,;TRIM3,missense_variant,p.Phe577Leu,ENST00000536344,NM_001248007.1;TRIM3,downstream_gene_variant,,ENST00000526845,;TRIM3,downstream_gene_variant,,ENST00000530724,;TRIM3,non_coding_transcript_exon_variant,,ENST00000532542,;TRIM3,non_coding_transcript_exon_variant,,ENST00000533064,;TRIM3,non_coding_transcript_exon_variant,,ENST00000533309,;	uc001mdh.2	c.2088C>G	2319/2879	4	4			c.2088C>G						11	SNP	c.(2086-2088)TTC>TTG	33	33			central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1)	5	Broad	tripartite motif-containing 3			6470405		0.562	ENSG00000110171	16254	g.chr11:6470405G>C	nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	Melanoma(6;5 510 1540 25169 29084)			Melanoma(6;5 510 1540 25169 29084)			-15.956791	KEEP	1	2	-1	47	56	1	2	-1	6.850094	47	56	0.031579	1	0	0	0	0	1	0	0	0	--	--		0	C			TRIM3_uc001mdi.2_Missense_Mutation_p.F696L|TRIM3_uc010raj.1_Missense_Mutation_p.F577L|TRIM3_uc009yfd.2_Missense_Mutation_p.F696L	153	GBM-15-0742-TP	p.F696L	G	CAGAGCTGTCGAATACCTGGG	NM_006458	NP_006449	6470405	O75382	TRIM3_HUMAN	0		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	13	2475	-	C	C		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	Missense_Mutation	696			NHL 5.			
TRIM32	22954	broad.mit.edu	GRCh37	9	119461599	119461599	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0128-01	TCGA-06-0128-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000450136.1:c.1578C>T	p.Thr526=	p.T526=	ENST00000450136	NM_012210.3	526	acC/acT	0			1			T	T	uc004bjx.2	protein_coding		CCDS6817.1			1578/1962								p.T526T(1)	central_nervous_system(2)|kidney(1)	3	c.(1576-1578)ACC>ACT			Gene3D:2.120.10.30,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF308,Superfamily_domains:SSF101898	tripartite motif-containing 32				ENSP00000363095		2-Feb	1.65E-05			0.000231					rs778620127,COSM35597	2-Feb	.	Bardet-Biedl_syndrome	ENST00000373983	Transcript	1		fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000119401	g.chr9:119461599C>T	16380			LOW								--	--	1																																		ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Silent_p.T526T	0,1				p.T526T	NM_001099679	NP_001093149			0,1	TRI32_HUMAN	TRIM32	HGNC	Q13049	TRI32_HUMAN			Q5JVY0_HUMAN		2	1736	+			UPI000012CDB9	526					SNV	TRIM32,synonymous_variant,p.=,ENST00000450136,NM_012210.3,NM_001099679.1;TRIM32,synonymous_variant,p.=,ENST00000373983,;ASTN2,intron_variant,,ENST00000313400,;ASTN2,intron_variant,,ENST00000373996,;ASTN2,intron_variant,,ENST00000361209,NM_014010.4;ASTN2,intron_variant,,ENST00000361477,;ASTN2,intron_variant,,ENST00000373986,;TRIM32,downstream_gene_variant,,ENST00000411410,;	uc004bjx.2	c.1578C>T	1708/3688	2	2			c.1578C>T						9	SNP	c.(1576-1578)ACC>ACT	48	48		p.T526T(1)	central_nervous_system(2)|kidney(1)	3	Broad	tripartite motif-containing 32			119461599	Bardet-Biedl_syndrome	0.542	ENSG00000119401	16256	g.chr9:119461599C>T	fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	Esophageal Squamous(92;212 1916 19711 26951)			Esophageal Squamous(92;212 1916 19711 26951)			97.573613	KEEP	16	16	-1	25	43	16	16	-1	99.569575	25	43	0.344086	1	0	0	0	0	0	0	1	0	--	--		0	T			ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Silent_p.T526T	14	GBM-06-0128-TP	p.T526T	C	CTGAGGGCACCGTCTACTTCA	NM_001099679	NP_001093149	119461599	Q13049	TRI32_HUMAN	0			2	1736	+	T	T			Silent	526						
TRIM33	0	broad.mit.edu	GRCh37	1	114969900	114969900	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01	TCGA-26-5135-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358465.2:c.1319G>A	p.Arg440His	p.R440H	ENST00000358465	NM_015906.3	440	cGt/cAt	0			1			T	R/H	uc001eew.2	protein_coding	YES	CCDS872.1			1319/3384	T		RET		papillary thyroid				lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	c.(1318-1320)CGT>CAT			hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF118,SMART_domains:SM00502	tripartite motif-containing 33 protein isoform				ENSP00000351250		20-Aug	8.24E-06					1.50E-05			rs755058963,COSM2157079,COSM2157078	20-Aug	.		ENST00000358465	Transcript	1		negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	ENSG00000197323	g.chr1:114969900C>T	16290			MODERATE		1.01	low	getma.org/?cm=msa&ty=f&p=TRI33_HUMAN&rb=313&re=512&var=R440H	NA	getma.org/?cm=var&var=hg19,1,114969900,C,T&fts=all	R440H	-0.55	neutral	1																																		TRIM33_uc010owr.1_Missense_Mutation_p.R48H|TRIM33_uc010ows.1_Missense_Mutation_p.R48H|TRIM33_uc001eex.2_Missense_Mutation_p.R440H	0,1,1	1		benign(0.022)	p.R440H	NM_015906	NP_056990		tolerated(0.32)	0,1,1	TRI33_HUMAN	TRIM33	HGNC	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)			8	1403	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	UPI000013D8CD	440					SNV	TRIM33,missense_variant,p.Arg440His,ENST00000358465,NM_015906.3;TRIM33,missense_variant,p.Arg440His,ENST00000369543,NM_033020.2;TRIM33,missense_variant,p.Arg48His,ENST00000450349,;TRIM33,missense_variant,p.Arg177His,ENST00000448034,;	uc001eew.2	c.1319G>A	1403/8339	2	2			c.1319G>A	T		RET		papillary thyroid	1	SNP	c.(1318-1320)CGT>CAT	29	29			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	Broad	tripartite motif-containing 33 protein isoform			114969900		0.353	ENSG00000197323	16257	g.chr1:114969900C>T	negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			377			377	230.479206	KEEP	48	41	-1	69	67	48	41	-1	232.493292	69	67	0.393035	1	0	0	0	0	1	0	0	0	-0.55	neutral		0	T			TRIM33_uc010owr.1_Missense_Mutation_p.R48H|TRIM33_uc010ows.1_Missense_Mutation_p.R48H|TRIM33_uc001eex.2_Missense_Mutation_p.R440H	184	GBM-26-5135-TP	p.R440H	C	CAAAATATGACGCAACTGGAA	NM_015906	NP_056990	114969900	Q9UPN9	TRI33_HUMAN	0		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	8	1403	-	T	T	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	Missense_Mutation	440						
TRIM38	10475	broad.mit.edu	GRCh37	6	25966964	25966964	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0158-01	TCGA-06-0158-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357085.3:c.214C>T	p.Arg72Ter	p.R72*	ENST00000357085	NM_006355.3	72	Cga/Tga	0		T:0	1	T:0		T	R/*	uc003nfm.2	protein_coding	YES	CCDS4568.1			214/1398										0	c.(214-216)CGA>TGA			hmmpanther:PTHR24103:SF47,hmmpanther:PTHR24103,Gene3D:3.30.40.10,Superfamily_domains:SSF57850	tripartite motif-containing 38		T:0.001		ENSP00000349596	T:0	8-Mar									rs557556364,COSM2150131	8-Mar	.		ENST00000357085	Transcript		T:0.0002	positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding	ENSG00000112343	g.chr6:25966964C>T	10059			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,6,25966964,C,T&fts=all	R72*	--	--	1																																		TRIM38_uc003nfn.2_Nonsense_Mutation_p.R72*	0,1	1			p.R72*	NM_006355	NP_006346	T:0		0,1	TRI38_HUMAN	TRIM38	HGNC	O00635	TRI38_HUMAN					3	649	+			UPI000013431A	72					SNV	TRIM38,stop_gained,p.Arg72Ter,ENST00000357085,NM_006355.3;TRIM38,stop_gained,p.Arg72Ter,ENST00000349458,;	uc003nfm.2	c.214C>T	690/5343	5	2			c.214C>T						6	SNP	c.(214-216)CGA>TGA	29	29				0	Broad	tripartite motif-containing 38			25966964		0.498	ENSG00000112343	16262	g.chr6:25966964C>T	positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding							85.696498	KEEP	19	13	-1	31	38	19	13	-1	88.633201	31	38	0.316327	1	0	0	0	0	0	1	0	0	--	--		0	T			TRIM38_uc003nfn.2_Nonsense_Mutation_p.R72*	29	GBM-06-0158-TP	p.R72*	C	GGATAGCCTCCGACCCAACAA	NM_006355	NP_006346	25966964	O00635	TRI38_HUMAN	0			3	649	+	T	T			Nonsense_Mutation	72						
TRIM4	0	broad.mit.edu	GRCh37	7	99516656	99516656	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-1829-01	TCGA-14-1829-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355947.2:c.369C>T	p.Ile123=	p.I123=	ENST00000355947	NM_033017.3	123	atC/atT	0			1			A	I	uc003usd.2	protein_coding	YES	CCDS5679.1			369/1503									ovary(1)|kidney(1)	2	c.(367-369)ATC>ATT			PROSITE_profiles:PS50119,hmmpanther:PTHR24103:SF91,hmmpanther:PTHR24103,Pfam_domain:PF00643,Gene3D:1freA00,SMART_domains:SM00336,Superfamily_domains:SSF57845	tripartite motif protein TRIM4 isoform alpha				ENSP00000348216		7-Jan									COSM3412568,COSM3412569	7-Jan	.		ENST00000355947	Transcript			protein trimerization	cytoplasm|plasma membrane	zinc ion binding	ENSG00000146833	g.chr7:99516656G>A	16275			LOW								--	--	1																																		TRIM4_uc003use.2_Silent_p.I123I|TRIM4_uc011kjc.1_5'UTR|TRIM4_uc003usf.2_Silent_p.I123I	1,1	1			p.I123I	NM_033017	NP_148977			1,1	TRIM4_HUMAN	TRIM4	HGNC	Q9C037	TRIM4_HUMAN			B4DEC5_HUMAN		1	499	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)	UPI000013DA79	123			B box-type.		SNV	TRIM4,synonymous_variant,p.=,ENST00000355947,NM_033017.3;TRIM4,synonymous_variant,p.=,ENST00000349062,NM_033091.2;TRIM4,synonymous_variant,p.=,ENST00000354241,;TRIM4,synonymous_variant,p.=,ENST00000447480,;GJC3,downstream_gene_variant,,ENST00000312891,NM_181538.2;	uc003usd.2	c.369C>T	499/3383	2	2			c.369C>T						7	SNP	c.(367-369)ATC>ATT	21	21			ovary(1)|kidney(1)	2	Broad	tripartite motif protein TRIM4 isoform alpha			99516656		0.612	ENSG00000146833	16264	g.chr7:99516656G>A	protein trimerization	cytoplasm|plasma membrane	zinc ion binding							13.733241	KEEP	4	2	-1	9	5	4	2	-1	14.312532	9	5	0.315789	1	0	0	0	0	0	0	1	0	--	--		0	A			TRIM4_uc003use.2_Silent_p.I123I|TRIM4_uc011kjc.1_5'UTR|TRIM4_uc003usf.2_Silent_p.I123I	149	GBM-14-1829-TP	p.I123I	G	AGGCCTCGTCGATGGGTGCCA	NM_033017	NP_148977	99516656	Q9C037	TRIM4_HUMAN	0			1	499	-	A	A	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)	Silent	123			B box-type.			
TRIM4	89122		GRCh37	7	99516919	99516919	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000355947.2:c.106C>A	p.Leu36Met	p.L36M	ENST00000355947	NM_033017.3	36	Ctg/Atg	0																																																																																																																																																																																																																																												
TRIM40	135644	broad.mit.edu	GRCh37	6	30114887	30114887	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0744-01	TCGA-06-0744-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307859.4:c.480G>A	p.Ala160=	p.A160=	ENST00000307859		160	gcG/gcA	0			1			A	A	uc003npk.2	protein_coding		CCDS69069.1			567/777									ovary(1)	1	c.(565-567)GCG>GCA			hmmpanther:PTHR24103:SF241,hmmpanther:PTHR24103	tripartite motif-containing 40				ENSP00000365914		5-Mar	1.65E-05					3.00E-05			rs759209501,COSM2151601,COSM3410893	5-Mar	.		ENST00000376724	Transcript				intracellular	zinc ion binding	ENSG00000204614	g.chr6:30114887G>A	18736			LOW								--	--	1																																		TRIM40_uc003npm.2_Silent_p.A160A	0,1,1				p.A189A	NM_138700	NP_619645			0,1,1	TRI40_HUMAN	TRIM40	HGNC	Q6P9F5	TRI40_HUMAN					4	953	+			UPI00002132D2	189					SNV	TRIM40,synonymous_variant,p.=,ENST00000396581,NM_001286633.1;TRIM40,synonymous_variant,p.=,ENST00000376724,NM_138700.3;TRIM40,synonymous_variant,p.=,ENST00000307859,;TRIM10,downstream_gene_variant,,ENST00000449742,NM_006778.3;TRIM10,downstream_gene_variant,,ENST00000376704,NM_052828.2;	uc003npk.2	c.567G>A	871/2004	2	2			c.567G>A						6	SNP	c.(565-567)GCG>GCA	33	33			ovary(1)	1	Broad	tripartite motif-containing 40			30114887		0.597	ENSG00000204614	16265	g.chr6:30114887G>A		intracellular	zinc ion binding							80.371695	KEEP	14	13	-1	12	20	14	13	-1	80.408574	12	20	0.471698	1	0	0	0	0	0	0	1	0	--	--		0	A			TRIM40_uc003npm.2_Silent_p.A160A	66	GBM-06-0744-TP	p.A189A	G	CAGCAGAAGCGGCCAGAATCC	NM_138700	NP_619645	30114887	Q6P9F5	TRI40_HUMAN	0			4	953	+	A	A			Silent	189						
TRIM41	0	broad.mit.edu	GRCh37	5	180651777	180651777	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01	TCGA-19-4068-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315073.5:c.778G>A	p.Val260Met	p.V260M	ENST00000315073	NM_033549.4	260	Gtg/Atg	0			1			A	V/M	uc003mne.1	protein_coding	YES	CCDS4466.1			778/1893										0	c.(778-780)GTG>ATG			Gene3D:1freA00,Pfam_domain:PF00643,PROSITE_profiles:PS50119,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF286,SMART_domains:SM00336,Superfamily_domains:SSF57845	tripartite motif-containing 41 isoform 1				ENSP00000320869		6-Jan	1.65E-05		0.000173						rs776938769,COSM2156503,COSM2156504	6-Jan	.		ENST00000315073	Transcript				cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	ENSG00000146063	g.chr5:180651777G>A	19013			MODERATE		1.56	low	getma.org/?cm=msa&ty=f&p=TRI41_HUMAN&rb=222&re=263&var=V260M	getma.org/pdb.php?prot=TRI41_HUMAN&from=222&to=263&var=V260M	getma.org/?cm=var&var=hg19,5,180651777,G,A&fts=all	V260M	--	--	1																																		uc003mnb.1_Missense_Mutation_p.R39C|TRIM41_uc003mnc.1_Missense_Mutation_p.V260M|TRIM41_uc003mnd.1_Missense_Mutation_p.V260M|TRIM41_uc003mnf.1_RNA	0,1,1	1		probably_damaging(0.997)	p.V260M	NM_033549	NP_291027		deleterious(0)	0,1,1	TRI41_HUMAN	TRIM41	HGNC	Q8WV44	TRI41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		D6REK2_HUMAN		1	1472	+	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	UPI00001B248B	260			B box-type.		SNV	TRIM41,missense_variant,p.Val260Met,ENST00000315073,NM_033549.4;TRIM41,missense_variant,p.Val260Met,ENST00000351937,NM_201627.2;TRIM41,intron_variant,,ENST00000515499,;MIR4638,upstream_gene_variant,,ENST00000581158,;CTC-338M12.7,non_coding_transcript_exon_variant,,ENST00000499096,;TRIM41,missense_variant,p.Val241Met,ENST00000503114,;TRIM41,non_coding_transcript_exon_variant,,ENST00000515834,;TRIM41,non_coding_transcript_exon_variant,,ENST00000515223,;TRIM41,non_coding_transcript_exon_variant,,ENST00000508930,;	uc003mne.1	c.778G>A	1488/3637	2	2			c.778G>A						5	SNP	c.(778-780)GTG>ATG	23	23				0	Broad	tripartite motif-containing 41 isoform 1			180651777		0.552	ENSG00000146063	16266	g.chr5:180651777G>A		cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding							129.042468	KEEP	31	33	-1	45	64	31	33	-1	131.415894	45	64	0.354331	1	0	0	0	0	1	0	0	0	--	--		0	A			uc003mnb.1_Missense_Mutation_p.R39C|TRIM41_uc003mnc.1_Missense_Mutation_p.V260M|TRIM41_uc003mnd.1_Missense_Mutation_p.V260M|TRIM41_uc003mnf.1_RNA	168	GBM-19-4068-TP	p.V260M	G	ACAGCACAGCGTGGTGCCATT	NM_033549	NP_291027	180651777	Q8WV44	TRI41_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	1472	+	A	A	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Missense_Mutation	260			B box-type.			
TRIM42	287015	broad.mit.edu	GRCh37	3	140397090	140397090	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs116143762	by1000genomes	TCGA-06-0747-01	TCGA-06-0747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286349.3:c.19G>A	p.Val7Ile	p.V7I	ENST00000286349	NM_152616.4	7	Gtt/Att	0	A:0.0002		1			A	V/I	uc003eto.1	protein_coding	YES	CCDS3113.1			19/2172									lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7	c.(19-21)GTT>ATT			Low_complexity_(Seg):seg	tripartite motif-containing 42			A:0	ENSP00000286349		5-Jan	6.59E-05			0.000231			0.00111	0.000307	rs116143762,COSM2151863	5-Jan	.		ENST00000286349	Transcript				intracellular	zinc ion binding	ENSG00000155890	g.chr3:140397090G>A	19014			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=TRI42_HUMAN&rb=1&re=99&var=V7I	NA	getma.org/?cm=var&var=hg19,3,140397090,G,A&fts=all	V7I	--	--	1																																			0,1	1		unknown(0)	p.V7I	NM_152616	NP_689829		tolerated_low_confidence(0.33)	0,1	TRI42_HUMAN	TRIM42	HGNC	Q8IWZ5	TRI42_HUMAN					1	210	+			UPI00001AEAE0	7			Cys-rich.		SNV	TRIM42,missense_variant,p.Val7Ile,ENST00000286349,NM_152616.4;	uc003eto.1	c.19G>A	210/2539	1	1			c.19G>A						3	SNP	c.(19-21)GTT>ATT	64	64			lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7	Broad	tripartite motif-containing 42			140397090		0.507	ENSG00000155890	16267	g.chr3:140397090G>A		intracellular	zinc ion binding			261			261	481.022014	KEEP	95	74	-1	112	86	95	74	-1	481.629891	112	86	0.454545	1	0	0	0	0	1	0	0	0	--	--		0	A				68	GBM-06-0747-TP	p.V7I	G	TGCTATGTGCGTTTGCTGTCC	NM_152616	NP_689829	140397090	Q8IWZ5	TRI42_HUMAN	0			1	210	+	A	A			Missense_Mutation	7			Cys-rich.			
TRIM42	0	broad.mit.edu	GRCh37	3	140397352	140397352	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286349.3:c.281G>A	p.Arg94His	p.R94H	ENST00000286349	NM_152616.4	94	cGc/cAc	0	A:0.0002		1			A	R/H	uc003eto.1	protein_coding	YES	CCDS3113.1			281/2172									lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7	c.(280-282)CGC>CAC				tripartite motif-containing 42			A:0	ENSP00000286349		5-Jan	1.65E-05	0.000102						6.06E-05	rs201174770,COSM3408287	5-Jan	.		ENST00000286349	Transcript				intracellular	zinc ion binding	ENSG00000155890	g.chr3:140397352G>A	19014			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TRI42_HUMAN&rb=1&re=99&var=R94H	NA	getma.org/?cm=var&var=hg19,3,140397352,G,A&fts=all	R94H	--	--	1																																			0,1	1		benign(0.027)	p.R94H	NM_152616	NP_689829		tolerated(0.05)	0,1	TRI42_HUMAN	TRIM42	HGNC	Q8IWZ5	TRI42_HUMAN					1	472	+			UPI00001AEAE0	94			Cys-rich.		SNV	TRIM42,missense_variant,p.Arg94His,ENST00000286349,NM_152616.4;	uc003eto.1	c.281G>A	472/2539	1	1			c.281G>A						3	SNP	c.(280-282)CGC>CAC	60	60			lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7	Broad	tripartite motif-containing 42			140397352		0.557	ENSG00000155890	16267	g.chr3:140397352G>A		intracellular	zinc ion binding		p.R94H(NCCSTCK140-Tumor)	261		p.R94H(NCCSTCK140-Tumor)	261	6.582175	KEEP	5	5	-1	23	17	5	5	-1	10.257249	23	17	0.137931	1	0	0	0	0	1	0	0	0	--	--		0	A				235	GBM-32-2491-TP	p.R94H	G	TATGAGAGCCGCTGCTGCCGC	NM_152616	NP_689829	140397352	Q8IWZ5	TRI42_HUMAN	0			1	472	+	A	A			Missense_Mutation	94			Cys-rich.			
TRIM43	129868	broad.mit.edu	GRCh37	2	96262159	96262159	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs149986492		TCGA-06-0152-01	TCGA-06-0152-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000272395.2:c.717A>T	p.Lys239Asn	p.K239N	ENST00000272395	NM_138800.1	239	aaA/aaT	0			1			T	K/N	uc002suv.2	protein_coding	YES	CCDS2015.1			717/1341									ovary(1)	1	c.(715-717)AAA>AAT			hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF276	tripartite motif-containing 43				ENSP00000272395		7-Apr									COSM2149849,COSM2149850	7-Apr	.		ENST00000272395	Transcript				intracellular	zinc ion binding	ENSG00000144015	g.chr2:96262159A>T	19015			MODERATE		2.22	medium	getma.org/?cm=msa&ty=f&p=TRI43_HUMAN&rb=58&re=257&var=K239N	NA	getma.org/?cm=var&var=hg19,2,96262159,A,T&fts=all	K239N	--	--	1																																			1,1	1		probably_damaging(0.937)	p.K239N	NM_138800	NP_620155		deleterious(0.01)	1,1	TRI43_HUMAN	TRIM43	HGNC	Q96BQ3	TRI43_HUMAN					4	853	+			UPI000006E7BB	239					SNV	TRIM43,missense_variant,p.Lys239Asn,ENST00000272395,NM_138800.1,NM_001164464.1;	uc002suv.2	c.717A>T	853/1682	1	1			c.717A>T						2	SNP	c.(715-717)AAA>AAT	16	16			ovary(1)	1	Broad	tripartite motif-containing 43			96262159		0.413	ENSG00000144015	16268	g.chr2:96262159A>T		intracellular	zinc ion binding							39.302147	KEEP	10	6	-1	3	8	10	6	-1	39.341739	3	8	0.545455	1	0	0	0	0	1	0	0	0	--	--		0	T				25	GBM-06-0152-TP	p.K239N	A	TGTGTCATAAACCAGATGTGG	NM_138800	NP_620155	96262159	Q96BQ3	TRI43_HUMAN	0			4	853	+	T	T			Missense_Mutation	239						
TRIM45	0	broad.mit.edu	GRCh37	1	117663350	117663350	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256649.4:c.474C>T	p.Cys158=	p.C158=	ENST00000256649	NM_025188.3	158	tgC/tgT	0			1			A	C	uc001egz.2	protein_coding	YES	CCDS893.1			474/1743									central_nervous_system(1)	1	c.(472-474)TGC>TGT			Pfam_domain:PF00643,PROSITE_profiles:PS50119,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF244,SMART_domains:SM00336	tripartite motif-containing 45 isoform 1				ENSP00000256649		6-Jan									COSM3399584	6-Jan	.		ENST00000256649	Transcript				cytoplasm|nucleus	zinc ion binding	ENSG00000134253	g.chr1:117663350G>A	19018			LOW								--	--	1																																		TRIM45_uc009whe.2_Silent_p.C158C|TRIM45_uc001eha.2_Silent_p.C54C	1	1			p.C158C	NM_025188	NP_079464			1	TRI45_HUMAN	TRIM45	HGNC	Q9H8W5	TRI45_HUMAN		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)	S4R407_HUMAN		1	1062	-	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)	UPI000013CF1E	158			B box-type 1.		SNV	TRIM45,synonymous_variant,p.=,ENST00000256649,NM_025188.3;TRIM45,synonymous_variant,p.=,ENST00000369464,NM_001145635.1;TRIM45,synonymous_variant,p.=,ENST00000369461,;TRIM45,synonymous_variant,p.=,ENST00000485032,;	uc001egz.2	c.474C>T	1001/3515	2	2			c.474C>T						1	SNP	c.(472-474)TGC>TGT	33	33			central_nervous_system(1)	1	Broad	tripartite motif-containing 45 isoform 1			117663350		0.527	ENSG00000134253	16270	g.chr1:117663350G>A		cytoplasm|nucleus	zinc ion binding							-31.334978	KEEP	0	6	-1	94	84	0	6	-1	7.251288	94	84	0.025806	1	0	0	0	0	0	0	1	0	--	--		0	A			TRIM45_uc009whe.2_Silent_p.C158C|TRIM45_uc001eha.2_Silent_p.C54C	220	GBM-28-5213-TP	p.C158C	G	GAGCCTGGCAGCAGAAGTGGC	NM_025188	NP_079464	117663350	Q9H8W5	TRI45_HUMAN	0		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)	1	1062	-	A	A	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)	Silent	158			B box-type 1.			
TRIM46	80128	broad.mit.edu	GRCh37	1	155150608	155150608	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2569-01	TCGA-06-2569-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334634.4:c.1040G>A	p.Ser347Asn	p.S347N	ENST00000334634	NM_001282378.1	347	aGc/aAc	0			1			A	S/N	uc001fhs.1	protein_coding	YES	CCDS1097.1			1040/2280									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(1039-1041)AGC>AAC			hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF27	tripartite motif-containing 46				ENSP00000334657		10-Jun									COSM3399794	10-Jun	.		ENST00000334634	Transcript				intracellular	zinc ion binding	ENSG00000163462	g.chr1:155150608G>A	19019			MODERATE		0.41	neutral	getma.org/?cm=msa&ty=f&p=TRI46_HUMAN&rb=264&re=463&var=S347N	NA	getma.org/?cm=var&var=hg19,1,155150608,G,A&fts=all	S347N	--	--	1																																		RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Missense_Mutation_p.S347N|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.S221N|TRIM46_uc001fhu.1_Missense_Mutation_p.S324N|TRIM46_uc009wpg.1_Missense_Mutation_p.S334N|TRIM46_uc001fhv.3_Missense_Mutation_p.S334N|TRIM46_uc001fhw.1_RNA	1	1		benign(0.001)	p.S347N	NM_025058	NP_079334		tolerated(0.39)	1	TRI46_HUMAN	TRIM46	HGNC	Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		F5GYK0_HUMAN		6	1123	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		UPI000022B316	347			Potential.		SNV	TRIM46,missense_variant,p.Ser347Asn,ENST00000392451,;TRIM46,missense_variant,p.Ser324Asn,ENST00000368382,NM_001256600.1,NM_001256599.1,NM_025058.4,NM_001256601.1;TRIM46,missense_variant,p.Ser347Asn,ENST00000334634,NM_001282378.1,NM_001256601.1;TRIM46,missense_variant,p.Ser347Asn,ENST00000368383,;TRIM46,missense_variant,p.Ser221Asn,ENST00000545012,;TRIM46,missense_variant,p.Ser347Asn,ENST00000368385,NM_001282379.1;TRIM46,missense_variant,p.Ser354Asn,ENST00000543729,;RP11-201K10.3,intron_variant,,ENST00000473363,;KRTCAP2,upstream_gene_variant,,ENST00000295682,NM_173852.3;TRIM46,non_coding_transcript_exon_variant,,ENST00000468878,;TRIM46,non_coding_transcript_exon_variant,,ENST00000474430,;TRIM46,non_coding_transcript_exon_variant,,ENST00000464760,;KRTCAP2,upstream_gene_variant,,ENST00000490672,;KRTCAP2,upstream_gene_variant,,ENST00000487350,;KRTCAP2,upstream_gene_variant,,ENST00000491084,;KRTCAP2,upstream_gene_variant,,ENST00000471891,;KRTCAP2,upstream_gene_variant,,ENST00000497317,;KRTCAP2,upstream_gene_variant,,ENST00000492892,;KRTCAP2,upstream_gene_variant,,ENST00000482246,;KRTCAP2,upstream_gene_variant,,ENST00000461136,;	uc001fhs.1	c.1040G>A	1040/3061	2	2			c.1040G>A						1	SNP	c.(1039-1041)AGC>AAC	45	45			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	tripartite motif-containing 46			155150608		0.622	ENSG00000163462	16271	g.chr1:155150608G>A		intracellular	zinc ion binding							83.120856	KEEP	18	16	-1	18	42	18	16	-1	84.034532	18	42	0.384615	1	0	0	0	0	1	0	0	0	--	--		0	A			RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Missense_Mutation_p.S347N|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.S221N|TRIM46_uc001fhu.1_Missense_Mutation_p.S324N|TRIM46_uc009wpg.1_Missense_Mutation_p.S334N|TRIM46_uc001fhv.3_Missense_Mutation_p.S334N|TRIM46_uc001fhw.1_RNA	90	GBM-06-2569-TP	p.S347N	G	GCCCGTCTCAGCGCCCAGATC	NM_025058	NP_079334	155150608	Q7Z4K8	TRI46_HUMAN	0	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		6	1123	+	A	A	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Missense_Mutation	347			Potential.			
TRIM49	57093	broad.mit.edu	GRCh37	11	89531694	89531694	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2564-01	TCGA-06-2564-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329758.1:c.963C>T	p.Phe321=	p.F321=	ENST00000329758	NM_020358.2	321	ttC/ttT	0			1			A	F	uc001pdb.2	protein_coding	YES	CCDS8287.1			963/1359										0	c.(961-963)TTC>TTT			PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF268,hmmpanther:PTHR24103,Superfamily_domains:SSF49899	ring finger protein 18				ENSP00000327604		8-Aug									COSM2152930	8-Aug	.		ENST00000329758	Transcript				intracellular	zinc ion binding	ENSG00000168930	g.chr11:89531694G>A	13431			LOW								--	--	1																																			1	1			p.F321F	NM_020358	NP_065091			1	TRI49_HUMAN	TRIM49	HGNC	P0CI25	TRI49_HUMAN			I1YAQ5_HUMAN		8	1292	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	UPI000013431B	321			B30.2/SPRY.		SNV	TRIM49,synonymous_variant,p.=,ENST00000329758,NM_020358.2;TRIM49,synonymous_variant,p.=,ENST00000532501,;	uc001pdb.2	c.963C>T	1292/2163	2	2			c.963C>T						11	SNP	c.(961-963)TTC>TTT	17	17				0	Broad	ring finger protein 18			89531694		0.418	ENSG00000168930	16274	g.chr11:89531694G>A		intracellular	zinc ion binding							27.831586	KEEP	19	5	-1	48	44	19	5	-1	33.894928	48	44	0.191176	1	0	0	0	0	0	0	1	0	--	--		0	A				87	GBM-06-2564-TP	p.F321F	G	GTGTTGCAGTGAAATAGGGTA	NM_020358	NP_065091	89531694	P0CI25	TRI49_HUMAN	0			8	1292	-	A	A		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	Silent	321			B30.2/SPRY.			
TRIM49	0	broad.mit.edu	GRCh37	11	89531775	89531775	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-14-1395-01	TCGA-14-1395-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329758.1:c.882A>G	p.Glu294=	p.E294=	ENST00000329758	NM_020358.2	294	gaA/gaG	0			1			C	E	uc001pdb.2	protein_coding	YES	CCDS8287.1			882/1359										0	c.(880-882)GAA>GAG			PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF268,hmmpanther:PTHR24103,Superfamily_domains:SSF49899,Prints_domain:PR01407	ring finger protein 18				ENSP00000327604		8-Aug	8.29E-06					1.56E-05			rs751337512,COSM3398188	8-Aug	.		ENST00000329758	Transcript				intracellular	zinc ion binding	ENSG00000168930	g.chr11:89531775T>C	13431			LOW								--	--	1																																			0,1	1			p.E294E	NM_020358	NP_065091			0,1	TRI49_HUMAN	TRIM49	HGNC	P0CI25	TRI49_HUMAN			I1YAQ5_HUMAN		8	1211	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	UPI000013431B	294			B30.2/SPRY.		SNV	TRIM49,synonymous_variant,p.=,ENST00000329758,NM_020358.2;TRIM49,synonymous_variant,p.=,ENST00000532501,;	uc001pdb.2	c.882A>G	1211/2163	4	4			c.882A>G						11	SNP	c.(880-882)GAA>GAG	35	35				0	Broad	ring finger protein 18			89531775		0.313	ENSG00000168930	16274	g.chr11:89531775T>C		intracellular	zinc ion binding							35.748158	KEEP	7	6	-1	20	32	7	6	-1	40.578393	20	32	0.209677	1	0	0	0	0	0	0	1	0	--	--		0	C				144	GBM-14-1395-TP	p.E294E	T	TGTTGGCTTCTTCATGATGCA	NM_020358	NP_065091	89531775	P0CI25	TRI49_HUMAN	0			8	1211	-	C	C		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	Silent	294			B30.2/SPRY.			
TRIM49	0	broad.mit.edu	GRCh37	11	89531467	89531467	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-26-5136-01	TCGA-26-5136-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329758.1:c.1190T>A	p.Leu397His	p.L397H	ENST00000329758	NM_020358.2	397	cTt/cAt	0			1			T	L/H	uc001pdb.2	protein_coding	YES	CCDS8287.1			1190/1359										0	c.(1189-1191)CTT>CAT			PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF268,hmmpanther:PTHR24103,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899	ring finger protein 18				ENSP00000327604		8-Aug									COSM2157119	8-Aug	.		ENST00000329758	Transcript				intracellular	zinc ion binding	ENSG00000168930	g.chr11:89531467A>T	13431			MODERATE		2.31	medium	getma.org/?cm=msa&ty=f&p=TRI49_HUMAN&rb=338&re=451&var=L397H	getma.org/pdb.php?prot=TRI49_HUMAN&from=338&to=451&var=L397H	getma.org/?cm=var&var=hg19,11,89531467,A,T&fts=all	L397H	--	--	1																																			1	1		probably_damaging(0.964)	p.L397H	NM_020358	NP_065091		deleterious(0)	1	TRI49_HUMAN	TRIM49	HGNC	P0CI25	TRI49_HUMAN			I1YAQ5_HUMAN		8	1519	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	UPI000013431B	397			B30.2/SPRY.		SNV	TRIM49,missense_variant,p.Leu397His,ENST00000329758,NM_020358.2;TRIM49,missense_variant,p.Leu320His,ENST00000532501,;	uc001pdb.2	c.1190T>A	1519/2163	2	2			c.1190T>A						11	SNP	c.(1189-1191)CTT>CAT	48	48				0	Broad	ring finger protein 18			89531467		0.428	ENSG00000168930	16274	g.chr11:89531467A>T		intracellular	zinc ion binding							127.239744	KEEP	26	48	-1	108	131	26	48	-1	131.8306	108	131	0.315789	1	0	0	0	0	1	0	0	0	--	--		0	T				185	GBM-26-5136-TP	p.L397H	A	TTGCAGCATAAGTGGGGAGGT	NM_020358	NP_065091	89531467	P0CI25	TRI49_HUMAN	0			8	1519	-	T	T		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	Missense_Mutation	397			B30.2/SPRY.			
TRIM5	0	broad.mit.edu	GRCh37	11	5699638	5699638	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-16-1045-01	TCGA-16-1045-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380034.3:c.540C>T	p.Asn180=	p.N180=	ENST00000380034	NM_033034.2	180	aaC/aaT	0		A:0	1	A:0		A	N	uc001mbm.1	protein_coding	YES	CCDS31393.1			540/1482									ovary(1)	1	c.(538-540)AAC>AAT			hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF49	tripartite motif protein TRIM5 isoform alpha		A:0.001		ENSP00000369373	A:0	8-Apr	2.47E-05			0.000233				8.61E-05	rs182373551,COSM3397872,COSM3397871,COSM3397873	8-Apr	.		ENST00000380034	Transcript		A:0.0002	interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	ENSG00000132256	g.chr11:5699638G>A	16276			LOW								--	--	1																																		TRIM5_uc001mbq.1_Silent_p.N180N|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Silent_p.N180N|TRIM5_uc001mbo.2_Silent_p.N180N|TRIM5_uc001mbp.2_Silent_p.N180N	0,1,1,1	1			p.N180N	NM_033034	NP_149023	A:0		0,1,1,1	TRIM5_HUMAN	TRIM5	HGNC	Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	L7REZ6_HUMAN,L7RET5_HUMAN,E7EQQ5_HUMAN,D8L201_HUMAN,C9JWN8_HUMAN		4	797	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	UPI00000717A7	180			Potential.		SNV	TRIM5,synonymous_variant,p.=,ENST00000305836,;TRIM5,synonymous_variant,p.=,ENST00000396847,;TRIM5,synonymous_variant,p.=,ENST00000380034,NM_033034.2,NM_033092.2;TRIM5,synonymous_variant,p.=,ENST00000380027,;TRIM5,synonymous_variant,p.=,ENST00000396855,NM_033093.2;TRIM5,synonymous_variant,p.=,ENST00000396853,;TRIM5,synonymous_variant,p.=,ENST00000412903,;TRIM5,synonymous_variant,p.=,ENST00000438025,;TRIM5,downstream_gene_variant,,ENST00000419850,;TRIM5,non_coding_transcript_exon_variant,,ENST00000483835,;TRIM5,non_coding_transcript_exon_variant,,ENST00000492086,;TRIM5,non_coding_transcript_exon_variant,,ENST00000465634,;TRIM5,synonymous_variant,p.=,ENST00000433961,;TRIM5,non_coding_transcript_exon_variant,,ENST00000487241,;	uc001mbm.1	c.540C>T	797/2991	2	2			c.540C>T						11	SNP	c.(538-540)AAC>AAT	44	44			ovary(1)	1	Broad	tripartite motif protein TRIM5 isoform alpha			5699638		0.473	ENSG00000132256	16275	g.chr11:5699638G>A	interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding							101.541241	KEEP	34	21	-1	84	117	34	21	-1	119.973613	84	117	0.201794	1	0	0	0	0	0	0	1	0	--	--		0	A			TRIM5_uc001mbq.1_Silent_p.N180N|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Silent_p.N180N|TRIM5_uc001mbo.2_Silent_p.N180N|TRIM5_uc001mbp.2_Silent_p.N180N	157	GBM-16-1045-TP	p.N180N	G	CTGCCAAGACGTTGGTTTTGT	NM_033034	NP_149023	5699638	Q9C035	TRIM5_HUMAN	0		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	4	797	-	A	A		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	Silent	180			Potential.			
TRIM50	0	broad.mit.edu	GRCh37	7	72734159	72734159	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01	TCGA-26-5136-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333149.2:c.482G>A	p.Arg161Gln	p.R161Q	ENST00000333149	NM_001281450.1	161	cGg/cAg	0		T:0	1	T:0		T	R/Q	uc010lbd.1	protein_coding	YES	CCDS34654.1			482/1464									skin(1)	1	c.(481-483)CGG>CAG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF231	tripartite motif protein 50A		T:0.001		ENSP00000327994	T:0	7-Mar									rs184647228,COSM2157132,COSM2157131	7-Mar	.		ENST00000333149	Transcript		T:0.0002		cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding	ENSG00000146755	g.chr7:72734159C>T	19017			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=TRI50_HUMAN&rb=126&re=295&var=R161Q	NA	getma.org/?cm=var&var=hg19,7,72734159,C,T&fts=all	R161Q	--	--	1																																		FKBP6_uc003twz.2_Intron|TRIM50_uc003txy.1_Missense_Mutation_p.R161Q|TRIM50_uc003txz.1_Missense_Mutation_p.R161Q	0,1,1	1		possibly_damaging(0.605)	p.R161Q	NM_178125	NP_835226	T:0	tolerated(0.19)	0,1,1	TRI50_HUMAN	TRIM50	HGNC	Q86XT4	TRI50_HUMAN					3	607	-			UPI000015FD8F	161			Potential.		SNV	TRIM50,missense_variant,p.Arg161Gln,ENST00000333149,NM_001281450.1,NM_178125.3;TRIM50,missense_variant,p.Arg161Gln,ENST00000453152,NM_001281451.1;TRIM50,downstream_gene_variant,,ENST00000493498,;TRIM50,upstream_gene_variant,,ENST00000488217,;RP11-483G21.3,downstream_gene_variant,,ENST00000417100,;	uc010lbd.1	c.482G>A	683/2047	2	2			c.482G>A						7	SNP	c.(481-483)CGG>CAG	46	46			skin(1)	1	Broad	tripartite motif protein 50A			72734159		0.562	ENSG00000146755	16276	g.chr7:72734159C>T		cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding							282.084974	KEEP	56	72	-1	190	210	56	72	-1	309.689284	190	210	0.24115	1	0	0	0	0	1	0	0	0	--	--		0	T			FKBP6_uc003twz.2_Intron|TRIM50_uc003txy.1_Missense_Mutation_p.R161Q|TRIM50_uc003txz.1_Missense_Mutation_p.R161Q	185	GBM-26-5136-TP	p.R161Q	C	GATTCGGGTCCGGTTGTTCAC	NM_178125	NP_835226	72734159	Q86XT4	TRI50_HUMAN	0			3	607	-	T	T			Missense_Mutation	161			Potential.			
TRIM51	84767	broad.mit.edu	GRCh37	11	55653041	55653041	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0879-01	TCGA-06-0879-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449290.2:c.137C>T	p.Thr46Met	p.T46M	ENST00000449290	NM_032681.3	46	aCg/aTg	0			1			T	T/M	uc010rip.1	protein_coding	YES				137/1359										0	c.(136-138)ACG>ATG			Gene3D:3.30.40.10,Pfam_domain:PF15227,PROSITE_profiles:PS50089,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF302,SMART_domains:SM00184,Superfamily_domains:SSF57850	SPRY domain containing 5				ENSP00000395086		7-Feb									COSM928133	7-Feb	.		ENST00000449290	Transcript				intracellular	zinc ion binding	ENSG00000124900	g.chr11:55653041C>T	19023			MODERATE		1.865	low	getma.org/?cm=msa&ty=f&p=SPRY5_HUMAN&rb=11&re=57&var=T46M	getma.org/pdb.php?prot=SPRY5_HUMAN&from=11&to=57&var=T46M	getma.org/?cm=var&var=hg19,11,55653041,C,T&fts=all	T46M	--	--	1																																		SPRYD5_uc010riq.1_5'Flank	1	1		benign(0.006)	p.T46M	NM_032681	NP_116070		tolerated(0.27)	1	TRI51_HUMAN	TRIM51	HGNC	Q9BSJ1	SPRY5_HUMAN			I1YAQ1_HUMAN		2	229	+		all_epithelial(135;0.226)	UPI0000DFFA1E	46			RING-type.		SNV	TRIM51,missense_variant,p.Thr46Met,ENST00000449290,NM_032681.3;TRIM51,upstream_gene_variant,,ENST00000244891,;RP11-738O11.9,downstream_gene_variant,,ENST00000533247,;	uc010rip.1	c.137C>T	229/1629	1	1			c.137C>T						11	SNP	c.(136-138)ACG>ATG	15	15				0	Broad	SPRY domain containing 5			55653041		0.493	ENSG00000124900	14879	g.chr11:55653041C>T		intracellular	zinc ion binding							66.003054	KEEP	10	16	-1	24	29	10	16	-1	68.221662	24	29	0.315068	1	0	0	0	0	1	0	0	0	--	--		0	T			SPRYD5_uc010riq.1_5'Flank	75	GBM-06-0879-TP	p.T46M	C	TGGCAAGACACGGCAGTTCTT	NM_032681	NP_116070	55653041	Q9BSJ1	SPRY5_HUMAN	0			2	229	+	T	T		all_epithelial(135;0.226)	Missense_Mutation	46			RING-type.			
TRIM51	84767	broad.mit.edu	GRCh37	11	55652963	55652963	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs2063276	by1000genomes	TCGA-06-2569-01	TCGA-06-2569-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449290.2:c.59A>G	p.Asn20Ser	p.N20S	ENST00000449290	NM_032681.3	20	aAc/aGc	0	G:0.6481	G:0.6452	1	G:0.683		G	N/S	uc010rip.1	protein_coding	YES				59/1359										0	c.(58-60)AAC>AGC			Gene3D:3.30.40.10,Pfam_domain:PF15227,PROSITE_profiles:PS50089,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF302,SMART_domains:SM00184,Superfamily_domains:SSF57850	SPRY domain containing 5		G:0.7649	G:0.6209	ENSP00000395086	G:0.6153	7-Feb	0.657	0.653	0.741	0.775	0.642	0.623	0.629	0.697	rs2063276,COSM3747882	7-Feb	common_variant		ENST00000449290	Transcript		A:0.3183		intracellular	zinc ion binding	ENSG00000124900	g.chr11:55652963A>G	19023			MODERATE		0.395	neutral	getma.org/?cm=msa&ty=f&p=SPRY5_HUMAN&rb=11&re=57&var=N20S	getma.org/pdb.php?prot=SPRY5_HUMAN&from=11&to=57&var=N20S	getma.org/?cm=var&var=hg19,11,55652963,A,G&fts=all	N20S	--	--	1																																		SPRYD5_uc010riq.1_5'Flank	0,1	1		possibly_damaging(0.731)	p.N20S	NM_032681	NP_116070	G:0.7127	tolerated(0.09)	0,1	TRI51_HUMAN	TRIM51	HGNC	Q9BSJ1	SPRY5_HUMAN			I1YAQ1_HUMAN		2	151	+		all_epithelial(135;0.226)	UPI0000DFFA1E	20			RING-type.		SNV	TRIM51,missense_variant,p.Asn20Ser,ENST00000449290,NM_032681.3;TRIM51,upstream_gene_variant,,ENST00000244891,;RP11-738O11.9,downstream_gene_variant,,ENST00000533247,;	uc010rip.1	c.59A>G	151/1629	4	4			c.59A>G						11	SNP	c.(58-60)AAC>AGC	30	30				0	Broad	SPRY domain containing 5			55652963		0.502	ENSG00000124900	14879	g.chr11:55652963A>G		intracellular	zinc ion binding							-6.157073	KEEP	3	1	-1	43	37	3	1	-1	10.735737	43	37	0.050633	1	0	0	0	0	1	0	0	0	--	--		0	G			SPRYD5_uc010riq.1_5'Flank	90	GBM-06-2569-TP	p.N20S	A	ATCTGCATGAACTACTTCCTA	NM_032681	NP_116070	55652963	Q9BSJ1	SPRY5_HUMAN	0			2	151	+	G	G		all_epithelial(135;0.226)	Missense_Mutation	20			RING-type.			
TRIM51	0	broad.mit.edu	GRCh37	11	55653609	55653610	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-12-0618-01	TCGA-12-0618-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449290.2:c.430dupA	p.Met144AsnfsTer10	p.M144Nfs*10	ENST00000449290	NM_032681.3	141	cta/ctAa	0			1			A	L/LX	uc010rip.1	protein_coding	YES				422-423/1359										0	c.(421-423)CTAfs			hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF302,Low_complexity_(Seg):seg,Superfamily_domains:SSF57845	SPRY domain containing 5				ENSP00000395086		7-Mar									rs764176285	7-Mar	.		ENST00000449290	Transcript				intracellular	zinc ion binding	ENSG00000124900	g.chr11:55653609_55653610insA	19023	8		HIGH								--	--	1																																		SPRYD5_uc010riq.1_5'UTR		1			p.L141fs	NM_032681	NP_116070				TRI51_HUMAN	TRIM51	HGNC	Q9BSJ1	SPRY5_HUMAN			I1YAQ1_HUMAN		3	514_515	+		all_epithelial(135;0.226)	UPI0000DFFA1E	141					insertion	TRIM51,frameshift_variant,p.Met144AsnfsTer10,ENST00000449290,NM_032681.3;TRIM51,5_prime_UTR_variant,p.Met1?,ENST00000244891,;RP11-738O11.9,downstream_gene_variant,,ENST00000533247,;	uc010rip.1	c.422_423insA	514-515/1629	5	5			c.422_423insA						11	INS	c.(421-423)CTAfs	61	61				0	Broad	SPRY domain containing 5			55653610		0.401	ENSG00000124900	14879	g.chr11:55653609_55653610insA		intracellular	zinc ion binding																				0.37	1	0	0	1	1	0	0	0	0	--	--		0	A			SPRYD5_uc010riq.1_5'UTR	119	GBM-12-0618-TP	p.L141fs	-	GAGGAGCTCCTAAAAAAAATGC	NM_032681	NP_116070	55653609	Q9BSJ1	SPRY5_HUMAN	0			3	514_515	+	A	A		all_epithelial(135;0.226)	Frame_Shift_Ins	141						
TRIM51	0	broad.mit.edu	GRCh37	11	55655591	55655591	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-16-0846-01	TCGA-16-0846-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449290.2:c.591C>A	p.His197Gln	p.H197Q	ENST00000449290	NM_032681.3	197	caC/caA	0			1			A	H/Q	uc010rip.1	protein_coding	YES				591/1359										0	c.(589-591)CAC>CAA			hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF302,Low_complexity_(Seg):seg	SPRY domain containing 5				ENSP00000395086		7-Apr									COSM326561,COSM326562	7-Apr	.		ENST00000449290	Transcript				intracellular	zinc ion binding	ENSG00000124900	g.chr11:55655591C>A	19023			MODERATE		2.245	medium	getma.org/?cm=msa&ty=f&p=SPRY5_HUMAN&rb=130&re=329&var=H197Q	NA	getma.org/?cm=var&var=hg19,11,55655591,C,A&fts=all	H197Q	--	--	1																																		SPRYD5_uc010riq.1_Missense_Mutation_p.H54Q	1,1	1		benign(0.04)	p.H197Q	NM_032681	NP_116070		deleterious(0.01)	1,1	TRI51_HUMAN	TRIM51	HGNC	Q9BSJ1	SPRY5_HUMAN			I1YAQ1_HUMAN		4	683	+		all_epithelial(135;0.226)	UPI0000DFFA1E	197					SNV	TRIM51,missense_variant,p.His197Gln,ENST00000449290,NM_032681.3;TRIM51,missense_variant,p.His54Gln,ENST00000244891,;	uc010rip.1	c.591C>A	683/1629	1	1			c.591C>A						11	SNP	c.(589-591)CAC>CAA	51	51				0	Broad	SPRY domain containing 5			55655591		0.423	ENSG00000124900	14879	g.chr11:55655591C>A		intracellular	zinc ion binding							24.694906	KEEP	4	7	0.636363636	25	26	4	7	0.636363636	29.297787	25	26	0.2	1	0	0	0	0	1	0	0	0	--	--		0	A			SPRYD5_uc010riq.1_Missense_Mutation_p.H54Q	155	GBM-16-0846-TP	p.H197Q	C	AGCAACATCACTTGGAAAGGC	NM_032681	NP_116070	55655591	Q9BSJ1	SPRY5_HUMAN	0			4	683	+	A	A		all_epithelial(135;0.226)	Missense_Mutation	197						
TRIM51	0	broad.mit.edu	GRCh37	11	55655555	55655555	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-4928-01	TCGA-76-4928-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000449290.2:c.555G>T	p.Lys185Asn	p.K185N	ENST00000449290	NM_032681.3	185	aaG/aaT	0			1			T	K/N	uc010rip.1	protein_coding	YES				555/1359										0	c.(553-555)AAG>AAT			hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF302	SPRY domain containing 5				ENSP00000395086		7-Apr									COSM3397802,COSM3397803	7-Apr	.		ENST00000449290	Transcript				intracellular	zinc ion binding	ENSG00000124900	g.chr11:55655555G>T	19023			MODERATE		3.3	medium	getma.org/?cm=msa&ty=f&p=SPRY5_HUMAN&rb=130&re=329&var=K185N	NA	getma.org/?cm=var&var=hg19,11,55655555,G,T&fts=all	K185N	--	--	1																																		SPRYD5_uc010riq.1_Missense_Mutation_p.K42N	1,1	1		possibly_damaging(0.468)	p.K185N	NM_032681	NP_116070		deleterious(0.02)	1,1	TRI51_HUMAN	TRIM51	HGNC	Q9BSJ1	SPRY5_HUMAN			I1YAQ1_HUMAN		4	647	+		all_epithelial(135;0.226)	UPI0000DFFA1E	185					SNV	TRIM51,missense_variant,p.Lys185Asn,ENST00000449290,NM_032681.3;TRIM51,missense_variant,p.Lys42Asn,ENST00000244891,;	uc010rip.1	c.555G>T	647/1629	2	2			c.555G>T						11	SNP	c.(553-555)AAG>AAT	48	48				0	Broad	SPRY domain containing 5			55655555		0.398	ENSG00000124900	14879	g.chr11:55655555G>T		intracellular	zinc ion binding							16.705008	KEEP	9	8	0.529411765	59	61	9	8	0.529411765	28.135716	59	61	0.141304	1	0	0	0	0	1	0	0	0	--	--		0	T			SPRYD5_uc010riq.1_Missense_Mutation_p.K42N	268	GBM-76-4928-TP	p.K185N	G	AATATCAGAAGATGCCTGCAT	NM_032681	NP_116070	55655555	Q9BSJ1	SPRY5_HUMAN	0			4	647	+	T	T		all_epithelial(135;0.226)	Missense_Mutation	185						
TRIM51	84767		GRCh37	11	55653246	55653246	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000449290.2:c.342G>A	p.Pro114=	p.P114=	ENST00000449290	NM_032681.3	114	ccG/ccA	0																																																																																																																																																																																																																																												
TRIM52	84851	broad.mit.edu	GRCh37	5	180687305	180687305	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0237-01	TCGA-06-0237-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327767.4:c.510C>T	p.His170=	p.H170=	ENST00000327767	NM_032765.2	170	caC/caT	0			1			A	H	uc003mnp.2	protein_coding	YES	CCDS4467.1			510/894										0	c.(508-510)CAC>CAT			hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF286,Low_complexity_(Seg):seg,SMART_domains:SM00184	tripartite motif-containing 52				ENSP00000332152		2-Jan									COSM3410202	2-Jan	.		ENST00000327767	Transcript				intracellular	zinc ion binding	ENSG00000183718	g.chr5:180687305G>A	19024			LOW								--	--	1																																		uc003mnq.2_5'Flank	1	1			p.H170H	NM_032765	NP_116154			1	TRI52_HUMAN	TRIM52	HGNC	Q96A61	TRI52_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)	L0CQ38_HUMAN		1	815	-	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	UPI0000072D52	170					SNV	TRIM52,synonymous_variant,p.=,ENST00000327767,NM_032765.2;AC008443.1,downstream_gene_variant,,ENST00000599439,;CTC-338M12.4,intron_variant,,ENST00000511331,;CTC-338M12.4,downstream_gene_variant,,ENST00000505151,;TRIM52-AS1,upstream_gene_variant,,ENST00000514146,;CTC-338M12.4,downstream_gene_variant,,ENST00000506340,;TRIM52-AS1,upstream_gene_variant,,ENST00000507434,;CTC-338M12.4,downstream_gene_variant,,ENST00000417281,;TRIM52-AS1,upstream_gene_variant,,ENST00000509252,;TRIM52-AS1,upstream_gene_variant,,ENST00000433265,;TRIM52,non_coding_transcript_exon_variant,,ENST00000514805,;TRIM52,non_coding_transcript_exon_variant,,ENST00000503005,;TRIM52,upstream_gene_variant,,ENST00000513146,;TRIM52,upstream_gene_variant,,ENST00000510796,;	uc003mnp.2	c.510C>T	815/3467	1	1			c.510C>T						5	SNP	c.(508-510)CAC>CAT	64	64				0	Broad	tripartite motif-containing 52			180687305		0.537	ENSG00000183718	16277	g.chr5:180687305G>A		intracellular	zinc ion binding							-46.635041	KEEP	9	2	-1	140	135	9	2	-1	15.492162	140	135	0.034221	1	0	0	0	0	0	0	1	0	--	--		0	A			uc003mnq.2_5'Flank	54	GBM-06-0237-TP	p.H170H	G	AAGGAGGCGGGTGGATGTCAG	NM_032765	NP_116154	180687305	Q96A61	TRI52_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)	1	815	-	A	A	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Silent	170						
TRIM55	84675	broad.mit.edu	GRCh37	8	67062093	67062093	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0152-01	TCGA-06-0152-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315962.4:c.817G>T	p.Glu273Ter	p.E273*	ENST00000315962	NM_184085.1	273	Gaa/Taa	0			1			T	E/*	uc003xvv.2	protein_coding	YES	CCDS6184.1			817/1647									skin(3)|ovary(1)|central_nervous_system(1)	5	c.(817-819)GAA>TAA			PROSITE_profiles:PS51262,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF318	tripartite motif-containing 55 isoform 1				ENSP00000323913		10-May									COSM2149838,COSM2149839	10-May	.		ENST00000315962	Transcript				cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	ENSG00000147573	g.chr8:67062093G>T	14215			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,8,67062093,G,T&fts=all	E273*	--	--	1																																		TRIM55_uc003xvu.2_Nonsense_Mutation_p.E273*|TRIM55_uc003xvw.2_Nonsense_Mutation_p.E273*|TRIM55_uc003xvx.2_Intron	1,1	1			p.E273*	NM_184085	NP_908973			1,1	TRI55_HUMAN	TRIM55	HGNC	Q9BYV6	TRI55_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)				5	1043	+		Lung NSC(129;0.138)|all_lung(136;0.221)	UPI00001CE3B7	273			COS.		SNV	TRIM55,stop_gained,p.Glu273Ter,ENST00000315962,NM_184085.1;TRIM55,stop_gained,p.Glu273Ter,ENST00000353317,NM_184086.1;TRIM55,stop_gained,p.Glu273Ter,ENST00000276573,NM_033058.2;TRIM55,intron_variant,,ENST00000350034,NM_184087.1;TRIM55,upstream_gene_variant,,ENST00000517647,;	uc003xvv.2	c.817G>T	1190/2912	5	2			c.817G>T						8	SNP	c.(817-819)GAA>TAA	40	40			skin(3)|ovary(1)|central_nervous_system(1)	5	Broad	tripartite motif-containing 55 isoform 1			67062093		0.378	ENSG00000147573	16279	g.chr8:67062093G>T		cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding							139.079053	KEEP	25	33	0.431034483	37	31	25	33	0.431034483	139.370517	37	31	0.444444	1	0	0	0	0	0	1	0	0	--	--		0	T			TRIM55_uc003xvu.2_Nonsense_Mutation_p.E273*|TRIM55_uc003xvw.2_Nonsense_Mutation_p.E273*|TRIM55_uc003xvx.2_Intron	25	GBM-06-0152-TP	p.E273*	G	GGATGAGCCAGAAATGGCAGT	NM_184085	NP_908973	67062093	Q9BYV6	TRI55_HUMAN	0	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		5	1043	+	T	T		Lung NSC(129;0.138)|all_lung(136;0.221)	Nonsense_Mutation	273			COS.			
TRIM55	0	broad.mit.edu	GRCh37	8	67040581	67040581	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-27-2519-01	TCGA-27-2519-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315962.4:c.211G>T	p.Ala71Ser	p.A71S	ENST00000315962	NM_184085.1	71	Gca/Tca	0			1			T	A/S	uc003xvv.2	protein_coding	YES	CCDS6184.1			211/1647									skin(3)|ovary(1)|central_nervous_system(1)	5	c.(211-213)GCA>TCA			Gene3D:3.30.40.10,Pfam_domain:PF13923,PROSITE_profiles:PS50089,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF318,SMART_domains:SM00184,Superfamily_domains:SSF57850	tripartite motif-containing 55 isoform 1				ENSP00000323913		10-Feb									COSM3413086,COSM3413087	10-Feb	.		ENST00000315962	Transcript				cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	ENSG00000147573	g.chr8:67040581G>T	14215			MODERATE		-0.235	neutral	getma.org/?cm=msa&ty=f&p=TRI55_HUMAN&rb=22&re=83&var=A71S	getma.org/pdb.php?prot=TRI55_HUMAN&from=22&to=83&var=A71S	getma.org/?cm=var&var=hg19,8,67040581,G,T&fts=all	A71S	--	--	1																																		TRIM55_uc003xvu.2_Missense_Mutation_p.A71S|TRIM55_uc003xvw.2_Missense_Mutation_p.A71S|TRIM55_uc003xvx.2_Missense_Mutation_p.A71S	1,1	1		benign(0.145)	p.A71S	NM_184085	NP_908973		tolerated(0.42)	1,1	TRI55_HUMAN	TRIM55	HGNC	Q9BYV6	TRI55_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)				2	437	+		Lung NSC(129;0.138)|all_lung(136;0.221)	UPI00001CE3B7	71					SNV	TRIM55,missense_variant,p.Ala71Ser,ENST00000315962,NM_184085.1;TRIM55,missense_variant,p.Ala71Ser,ENST00000353317,NM_184086.1;TRIM55,missense_variant,p.Ala71Ser,ENST00000276573,NM_033058.2;TRIM55,missense_variant,p.Ala71Ser,ENST00000350034,NM_184087.1;	uc003xvv.2	c.211G>T	584/2912	2	2			c.211G>T						8	SNP	c.(211-213)GCA>TCA	18	18			skin(3)|ovary(1)|central_nervous_system(1)	5	Broad	tripartite motif-containing 55 isoform 1			67040581		0.493	ENSG00000147573	16279	g.chr8:67040581G>T		cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding							-55.573758	KEEP	2	6	0.25	140	141	2	6	0.25	10.993044	140	141	0.026119	1	0	0	0	0	1	0	0	0	--	--		0	T			TRIM55_uc003xvu.2_Missense_Mutation_p.A71S|TRIM55_uc003xvw.2_Missense_Mutation_p.A71S|TRIM55_uc003xvx.2_Missense_Mutation_p.A71S	199	GBM-27-2519-TP	p.A71S	G	TACCACCATGGCATCAGGGGG	NM_184085	NP_908973	67040581	Q9BYV6	TRI55_HUMAN	0	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		2	437	+	T	T		Lung NSC(129;0.138)|all_lung(136;0.221)	Missense_Mutation	71						
TRIM56	81844		GRCh37	7	100730794	100730794	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000306085.6:c.201C>T	p.Pro67=	p.P67=	ENST00000306085	NM_030961.1	67	ccC/ccT	0																																																																																																																																																																																																																																												
TRIM58	25893		GRCh37	1	248039229	248039229	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000366481.3:c.899C>T	p.Ala300Val	p.A300V	ENST00000366481	NM_015431.3	300	gCg/gTg	0																																																																																																																																																																																																																																												
TRIM59	286827	broad.mit.edu	GRCh37	3	160156161	160156161	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01	TCGA-06-0185-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309784.4:c.811G>A	p.Glu271Lys	p.E271K	ENST00000309784	NM_173084.2	271	Gag/Aag	0			1			T	E/K	uc003fdm.2	protein_coding	YES	CCDS3190.1			811/1212										0	c.(811-813)GAG>AAG			hmmpanther:PTHR24098,hmmpanther:PTHR24098:SF6	tripartite motif-containing 59				ENSP00000311219		3-Mar									COSM2150499	3-Mar	.		ENST00000309784	Transcript				integral to membrane|intracellular	zinc ion binding	ENSG00000213186	g.chr3:160156161C>T	30834			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=TRI59_HUMAN&rb=151&re=401&var=E271K	NA	getma.org/?cm=var&var=hg19,3,160156161,C,T&fts=all	E271K	--	--	1																																		IFT80_uc003fda.2_RNA	1	1		benign(0.002)	p.E271K	NM_173084	NP_775107		tolerated(0.27)	1	TRI59_HUMAN	TRIM59	HGNC	Q8IWR1	TRI59_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		C9JE08_HUMAN,C9J9F0_HUMAN,C9J614_HUMAN,C9IZE0_HUMAN		3	1006	-			UPI0000074490	271					SNV	TRIM59,missense_variant,p.Glu271Lys,ENST00000543469,;TRIM59,missense_variant,p.Glu271Lys,ENST00000309784,NM_173084.2;SMC4,downstream_gene_variant,,ENST00000357388,NM_001002800.1;SMC4,downstream_gene_variant,,ENST00000344722,NM_005496.3;SMC4,downstream_gene_variant,,ENST00000462787,;SMC4,downstream_gene_variant,,ENST00000360111,;SMC4,downstream_gene_variant,,ENST00000469762,;TRIM59,downstream_gene_variant,,ENST00000479460,;TRIM59,downstream_gene_variant,,ENST00000496222,;TRIM59,downstream_gene_variant,,ENST00000468542,;TRIM59,downstream_gene_variant,,ENST00000494486,;TRIM59,downstream_gene_variant,,ENST00000471155,;TRIM59,downstream_gene_variant,,ENST00000471396,;RP11-432B6.3,missense_variant,p.Glu271Lys,ENST00000483754,;SMC4,downstream_gene_variant,,ENST00000462668,;	uc003fdm.2	c.811G>A	997/3867	2	2			c.811G>A						3	SNP	c.(811-813)GAG>AAG	39	39				0	Broad	tripartite motif-containing 59			160156161		0.363	ENSG00000213186	16282	g.chr3:160156161C>T		integral to membrane|intracellular	zinc ion binding							319.103995	KEEP	63	60	-1	99	81	63	60	-1	321.087314	99	81	0.40942	1	0	0	0	0	1	0	0	0	--	--		0	T			IFT80_uc003fda.2_RNA	40	GBM-06-0185-TP	p.E271K	C	GGTTGAACCTCAGGAAGTGGT	NM_173084	NP_775107	160156161	Q8IWR1	TRI59_HUMAN	0	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		3	1006	-	T	T			Missense_Mutation	271						
TRIM6	0	broad.mit.edu	GRCh37	11	5631406	5631406	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278302.5:c.805G>A	p.Ala269Thr	p.A269T	ENST00000278302	NM_058166.4	269	Gct/Act	0			1			A	A/T	uc001mbf.2	protein_coding		CCDS31390.1			805/1467									ovary(1)	1	c.(889-891)GCT>ACT			hmmpanther:PTHR24103:SF290,hmmpanther:PTHR24103	tripartite motif-containing 6 and tripartite				ENSP00000278302		8-Jun									COSM3397851,COSM3397850	8-Jun	.		ENST00000278302	Transcript				intracellular	zinc ion binding	ENSG00000121236	g.chr11:5631406G>A	16277			MODERATE		0.87	low	getma.org/?cm=msa&ty=f&p=TRIM6_HUMAN&rb=134&re=333&var=A269T	NA	getma.org/?cm=var&var=hg19,11,5631406,G,A&fts=all	A269T	--	--	1																																		HBG2_uc001mak.1_Intron|TRIM6_uc009yeo.1_Missense_Mutation_p.A243T|TRIM6_uc010qzj.1_Missense_Mutation_p.A94T|TRIM6_uc001mbc.1_Missense_Mutation_p.A269T|TRIM6_uc001mbe.2_Missense_Mutation_p.A94T|TRIM6_uc010qzk.1_Missense_Mutation_p.A94T|TRIM6_uc010qzl.1_Missense_Mutation_p.A94T|TRIM6_uc001mbd.2_Missense_Mutation_p.A297T|TRIM6_uc001mbg.1_Missense_Mutation_p.A94T|TRIM6_uc009yep.1_Missense_Mutation_p.A94T	1,1			benign(0.004)	p.A297T	NM_001003819	NP_001003819		tolerated(1)	1,1	TRIM6_HUMAN	TRIM6	HGNC	B2RNG4	B2RNG4_HUMAN		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	C9JNQ0_HUMAN		6	1133	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	UPI00001373F4	297					SNV	TRIM6,missense_variant,p.Ala297Thr,ENST00000380097,NM_001003818.2,NM_001198644.1,NM_001198645.1;TRIM6-TRIM34,missense_variant,p.Ala297Thr,ENST00000354852,NM_001003819.3;TRIM6,missense_variant,p.Ala269Thr,ENST00000278302,NM_058166.4,NM_001198645.1;TRIM6,missense_variant,p.Ala94Thr,ENST00000445329,NM_001198645.1;TRIM6,missense_variant,p.Ala243Thr,ENST00000380107,;TRIM6,missense_variant,p.Ala94Thr,ENST00000507320,;TRIM6,missense_variant,p.Ala94Thr,ENST00000506134,;TRIM6,missense_variant,p.Ala94Thr,ENST00000515022,;TRIM6,missense_variant,p.Ala94Thr,ENST00000424369,;HBG2,intron_variant,,ENST00000380259,;AC015691.13,intron_variant,,ENST00000394793,;TRIM6,non_coding_transcript_exon_variant,,ENST00000481603,;TRIM6,non_coding_transcript_exon_variant,,ENST00000511284,;TRIM6,non_coding_transcript_exon_variant,,ENST00000469187,;	uc001mbf.2	c.889G>A	945/3217	1	1			c.889G>A						11	SNP	c.(889-891)GCT>ACT	54	54			ovary(1)	1	Broad	tripartite motif-containing 6 and tripartite			5631406		0.517	ENSG00000121236	16284	g.chr11:5631406G>A		intracellular	zinc ion binding							76.26712	KEEP	14	15	-1	26	35	14	15	-1	78.357948	26	35	0.324675	1	0	0	0	0	1	0	0	0	--	--		0	A			HBG2_uc001mak.1_Intron|TRIM6_uc009yeo.1_Missense_Mutation_p.A243T|TRIM6_uc010qzj.1_Missense_Mutation_p.A94T|TRIM6_uc001mbc.1_Missense_Mutation_p.A269T|TRIM6_uc001mbe.2_Missense_Mutation_p.A94T|TRIM6_uc010qzk.1_Missense_Mutation_p.A94T|TRIM6_uc010qzl.1_Missense_Mutation_p.A94T|TRIM6_uc001mbd.2_Missense_Mutation_p.A297T|TRIM6_uc001mbg.1_Missense_Mutation_p.A94T|TRIM6_uc009yep.1_Missense_Mutation_p.A94T	125	GBM-12-3649-TP	p.A297T	G	GAAGCCAGAAGCTCTCCCTAC	NM_001003819	NP_001003819	5631406	B2RNG4	B2RNG4_HUMAN	0		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	6	1133	+	A	A		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	Missense_Mutation	297						
TRIM6	0	broad.mit.edu	GRCh37	11	5625849	5625849	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278302.5:c.509C>A	p.Thr170Lys	p.T170K	ENST00000278302	NM_058166.4	170	aCa/aAa	0			1			A	T/K	uc001mbf.2	protein_coding		CCDS31390.1			509/1467									ovary(1)	1	c.(592-594)ACA>AAA			hmmpanther:PTHR24103:SF290,hmmpanther:PTHR24103	tripartite motif-containing 6 and tripartite				ENSP00000278302		8-Mar									COSM3747884,COSM3747883	8-Mar	.		ENST00000278302	Transcript				intracellular	zinc ion binding	ENSG00000121236	g.chr11:5625849C>A	16277			MODERATE		2.08	medium	getma.org/?cm=msa&ty=f&p=TRIM6_HUMAN&rb=134&re=333&var=T170K	NA	getma.org/?cm=var&var=hg19,11,5625849,C,A&fts=all	T170K	--	--	1																																		HBG2_uc001mak.1_Intron|TRIM6_uc009yeo.1_Missense_Mutation_p.T144K|TRIM6_uc010qzj.1_5'UTR|TRIM6_uc001mbc.1_Missense_Mutation_p.T170K|TRIM6_uc001mbe.2_5'UTR|TRIM6_uc010qzk.1_5'UTR|TRIM6_uc010qzl.1_Intron|TRIM6_uc001mbd.2_Missense_Mutation_p.T198K|TRIM6_uc001mbg.1_5'Flank|TRIM6_uc009yep.1_5'Flank	1,1			benign(0.055)	p.T198K	NM_001003819	NP_001003819		deleterious(0.02)	1,1	TRIM6_HUMAN	TRIM6	HGNC	B2RNG4	B2RNG4_HUMAN		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	C9JNQ0_HUMAN		3	837	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	UPI00001373F4	198					SNV	TRIM6,missense_variant,p.Thr198Lys,ENST00000380097,NM_001003818.2,NM_001198644.1,NM_001198645.1;TRIM6-TRIM34,missense_variant,p.Thr198Lys,ENST00000354852,NM_001003819.3;TRIM6,missense_variant,p.Thr170Lys,ENST00000278302,NM_058166.4,NM_001198645.1;TRIM6,missense_variant,p.Thr144Lys,ENST00000380107,;TRIM6,5_prime_UTR_variant,,ENST00000445329,NM_001198645.1;TRIM6,5_prime_UTR_variant,,ENST00000507320,;TRIM6,5_prime_UTR_variant,,ENST00000506134,;TRIM6,5_prime_UTR_variant,,ENST00000424369,;HBG2,intron_variant,,ENST00000380259,;TRIM6,intron_variant,,ENST00000515022,;AC015691.13,intron_variant,,ENST00000394793,;TRIM6,intron_variant,,ENST00000511284,;TRIM6,upstream_gene_variant,,ENST00000481603,;TRIM6,upstream_gene_variant,,ENST00000469187,;	uc001mbf.2	c.593C>A	649/3217	1	1			c.593C>A						11	SNP	c.(592-594)ACA>AAA	50	50			ovary(1)	1	Broad	tripartite motif-containing 6 and tripartite			5625849		0.468	ENSG00000121236	16284	g.chr11:5625849C>A		intracellular	zinc ion binding							254.399384	KEEP	39	50	0.561797753	51	56	39	50	0.561797753	254.743979	51	56	0.453552	1	0	0	0	0	1	0	0	0	--	--		0	A			HBG2_uc001mak.1_Intron|TRIM6_uc009yeo.1_Missense_Mutation_p.T144K|TRIM6_uc010qzj.1_5'UTR|TRIM6_uc001mbc.1_Missense_Mutation_p.T170K|TRIM6_uc001mbe.2_5'UTR|TRIM6_uc010qzk.1_5'UTR|TRIM6_uc010qzl.1_Intron|TRIM6_uc001mbd.2_Missense_Mutation_p.T198K|TRIM6_uc001mbg.1_5'Flank|TRIM6_uc009yep.1_5'Flank	218	GBM-28-5209-TP	p.T198K	C	GAGAAGAAAACATCCTGGAAG	NM_001003819	NP_001003819	5625849	B2RNG4	B2RNG4_HUMAN	0		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	3	837	+	A	A		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	Missense_Mutation	198						
TRIM6-TRIM34	0	broad.mit.edu	GRCh37	11	5656037	5656037	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-26-1442-01	TCGA-26-1442-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354852.5:c.1758G>T	p.Glu586Asp	p.E586D	ENST00000354852	NM_001003819.3	586	gaG/gaT	0			1			T	E/D	uc001mbf.2	protein_coding	YES	CCDS31388.1			1758/2529									ovary(1)	1	c.(1756-1758)GAG>GAT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24103:SF51,hmmpanther:PTHR24103	tripartite motif-containing 6 and tripartite				ENSP00000346916		14-Oct									COSM3397865,COSM3397864	14-Oct	.		ENST00000354852	Transcript				intracellular	zinc ion binding	ENSG00000258588	g.chr11:5656037G>T	33440			MODERATE		1.635	low	getma.org/?cm=msa&ty=f&p=TRI34_HUMAN&rb=134&re=333&var=E232D	NA	getma.org/?cm=var&var=hg19,11,5656037,G,T&fts=all	E232D	--	--	1																																		HBG2_uc001mak.1_Intron|TRIM34_uc001mbh.2_Missense_Mutation_p.E232D|TRIM34_uc009yeq.2_5'UTR|TRIM34_uc001mbi.2_Missense_Mutation_p.E232D|TRIM34_uc001mbj.2_Missense_Mutation_p.E232D	1,1	1		benign(0.225)	p.E586D	NM_001003819	NP_001003819		tolerated(0.47)	1,1		TRIM6-TRIM34	HGNC	B2RNG4	B2RNG4_HUMAN		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	C9JNQ0_HUMAN,B2RNG4_HUMAN		10	2002	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	UPI000041A254	586					SNV	TRIM6-TRIM34,missense_variant,p.Glu586Asp,ENST00000354852,NM_001003819.3;TRIM34,missense_variant,p.Glu232Asp,ENST00000514226,NM_001003827.1;TRIM34,missense_variant,p.Glu232Asp,ENST00000429814,NM_021616.5;TRIM6-TRIM34,missense_variant,p.Glu232Asp,ENST00000457787,;HBG2,intron_variant,,ENST00000380259,;TRIM34,upstream_gene_variant,,ENST00000495668,;TRIM34,non_coding_transcript_exon_variant,,ENST00000491385,;	uc001mbf.2	c.1758G>T	1931/3391	2	2			c.1758G>T						11	SNP	c.(1756-1758)GAG>GAT	25	25			ovary(1)	1	Broad	tripartite motif-containing 6 and tripartite			5656037		0.488	ENSG00000258588	16284	g.chr11:5656037G>T		intracellular	zinc ion binding							3.671159	KEEP	2	2	0.5	21	20	2	2	0.5	9.306219	21	20	0.108108	1	0	0	0	0	1	0	0	0	--	--		0	T			HBG2_uc001mak.1_Intron|TRIM34_uc001mbh.2_Missense_Mutation_p.E232D|TRIM34_uc009yeq.2_5'UTR|TRIM34_uc001mbi.2_Missense_Mutation_p.E232D|TRIM34_uc001mbj.2_Missense_Mutation_p.E232D	180	GBM-26-1442-TP	p.E586D	G	TGGTGAGAGAGCTCATCTCAG	NM_001003819	NP_001003819	5656037	B2RNG4	B2RNG4_HUMAN	0		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	10	2002	+	T	T		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	Missense_Mutation	586						
TRIM62	55223	broad.mit.edu	GRCh37	1	33625475	33625475	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5408-01	TCGA-06-5408-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000291416.5:c.575G>A	p.Arg192His	p.R192H	ENST00000291416	NM_018207.2	192	cGc/cAc	0			1			T	R/H	uc001bxb.2	protein_coding	YES	CCDS376.1			575/1428										0	c.(574-576)CGC>CAC			hmmpanther:PTHR24103:SF30,hmmpanther:PTHR24103	tripartite motif-containing 62				ENSP00000291416		5-Mar	8.24E-06							6.06E-05	rs762636288,COSM3400690	5-Mar	.		ENST00000291416	Transcript				intracellular	zinc ion binding	ENSG00000116525	g.chr1:33625475C>T	25574			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=TRI62_HUMAN&rb=129&re=296&var=R192H	NA	getma.org/?cm=var&var=hg19,1,33625475,C,T&fts=all	R192H	--	--	1																																			0,1	1		possibly_damaging(0.639)	p.R192H	NM_018207	NP_060677		deleterious(0)	0,1	TRI62_HUMAN	TRIM62	HGNC	Q9BVG3	TRI62_HUMAN					3	1213	-		Myeloproliferative disorder(586;0.0393)	UPI000004E050	192			Potential.		SNV	TRIM62,missense_variant,p.Arg192His,ENST00000291416,NM_018207.2;TRIM62,missense_variant,p.Arg71His,ENST00000543586,;TRIM62,non_coding_transcript_exon_variant,,ENST00000485148,;	uc001bxb.2	c.575G>A	809/3437	2	2			c.575G>A						1	SNP	c.(574-576)CGC>CAC	32	32				0	Broad	tripartite motif-containing 62			33625475		0.652	ENSG00000116525	16287	g.chr1:33625475C>T		intracellular	zinc ion binding							114.622096	KEEP	25	22	-1	42	43	25	22	-1	116.254481	42	43	0.371681	1	0	0	0	0	1	0	0	0	--	--		0	T				92	GBM-06-5408-TP	p.R192H	C	GGCCTTCTGGCGTTCACGCAG	NM_018207	NP_060677	33625475	Q9BVG3	TRI62_HUMAN	0			3	1213	-	T	T		Myeloproliferative disorder(586;0.0393)	Missense_Mutation	192			Potential.			
TRIM62	0	broad.mit.edu	GRCh37	1	33646782	33646782	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-14-1829-01	TCGA-14-1829-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000291416.5:c.252C>G	p.Leu84=	p.L84=	ENST00000291416	NM_018207.2	84	ctC/ctG	0			1			C	L	uc001bxb.2	protein_coding	YES	CCDS376.1			252/1428										0	c.(250-252)CTC>CTG			hmmpanther:PTHR24103:SF30,hmmpanther:PTHR24103	tripartite motif-containing 62				ENSP00000291416		5-Jan									COSM3400691	5-Jan	.		ENST00000291416	Transcript				intracellular	zinc ion binding	ENSG00000116525	g.chr1:33646782G>C	25574			LOW								--	--	1																																			1	1			p.L84L	NM_018207	NP_060677			1	TRI62_HUMAN	TRIM62	HGNC	Q9BVG3	TRI62_HUMAN					1	890	-		Myeloproliferative disorder(586;0.0393)	UPI000004E050	84					SNV	TRIM62,synonymous_variant,p.=,ENST00000291416,NM_018207.2;TRIM62,upstream_gene_variant,,ENST00000543586,;TRIM62,non_coding_transcript_exon_variant,,ENST00000485148,;TRIM62,downstream_gene_variant,,ENST00000486583,;	uc001bxb.2	c.252C>G	486/3437	4	4			c.252C>G						1	SNP	c.(250-252)CTC>CTG	47	47				0	Broad	tripartite motif-containing 62			33646782		0.701	ENSG00000116525	16287	g.chr1:33646782G>C		intracellular	zinc ion binding							16.167485	KEEP	3	3	-1	5	9	3	3	-1	16.967022	5	9	0.277778	1	0	0	0	0	0	0	1	0	--	--		0	C				149	GBM-14-1829-TP	p.L84L	G	GGCGCGCGTTGAGGATGGCGT	NM_018207	NP_060677	33646782	Q9BVG3	TRI62_HUMAN	0			1	890	-	C	C		Myeloproliferative disorder(586;0.0393)	Silent	84						
TRIM65	0	broad.mit.edu	GRCh37	17	73887344	73887344	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01	TCGA-32-2495-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269383.3:c.1070G>A	p.Arg357His	p.R357H	ENST00000269383	NM_173547.3	357	cGt/cAt	0			1			T	R/H	uc002jpx.2	protein_coding	YES	CCDS11732.1			1070/1554										0	c.(1069-1071)CGT>CAT			PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF321,hmmpanther:PTHR24103,Superfamily_domains:SSF49899	tripartite motif-containing 65				ENSP00000269383		6-Jun	2.48E-05							0.000183	rs748483118,COSM3403223	6-Jun	.		ENST00000269383	Transcript				intracellular	zinc ion binding	ENSG00000141569	g.chr17:73887344C>T	27316			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=TRI65_HUMAN&rb=313&re=506&var=R357H	getma.org/pdb.php?prot=TRI65_HUMAN&from=313&to=506&var=R357H	getma.org/?cm=var&var=hg19,17,73887344,C,T&fts=all	R357H	--	--	1																																			0,1	1		benign(0.003)	p.R357H	NM_173547	NP_775818		tolerated(0.56)	0,1	TRI65_HUMAN	TRIM65	HGNC	Q6PJ69	TRI65_HUMAN	Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)				6	1106	-			UPI000015FC8E	357			B30.2/SPRY.		SNV	TRIM65,missense_variant,p.Arg357His,ENST00000269383,NM_173547.3,NM_001256124.1;TRIM65,missense_variant,p.Arg209His,ENST00000543309,;TRIM65,3_prime_UTR_variant,,ENST00000540128,;TRIM65,intron_variant,,ENST00000591668,;TRIM65,intron_variant,,ENST00000592642,;TRIM65,downstream_gene_variant,,ENST00000540812,;	uc002jpx.2	c.1070G>A	1136/3439	1	1			c.1070G>A						17	SNP	c.(1069-1071)CGT>CAT	14	14				0	Broad	tripartite motif-containing 65			73887344		0.627	ENSG00000141569	16289	g.chr17:73887344C>T		intracellular	zinc ion binding							44.95045	KEEP	13	10	-1	39	31	13	10	-1	47.32547	39	31	0.288136	1	0	0	0	0	1	0	0	0	--	--		0	T				237	GBM-32-2495-TP	p.R357H	C	CCGGGACTGACGACAGTGCTT	NM_173547	NP_775818	73887344	Q6PJ69	TRI65_HUMAN	0	Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		6	1106	-	T	T			Missense_Mutation	357			B30.2/SPRY.			
TRIM7	0	broad.mit.edu	GRCh37	5	180622296	180622296	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-12-0615-01	TCGA-12-0615-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274773.7:c.1406T>C	p.Val469Ala	p.V469A	ENST00000274773	NM_203293.2	469	gTg/gCg	0			1			G	V/A	uc003mmz.1	protein_coding	YES	CCDS4462.1			1406/1536									ovary(2)|skin(1)	3	c.(1405-1407)GTG>GCG			Pfam_domain:PF00622,Prints_domain:PR01407,PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF221,SMART_domains:SM00449,Superfamily_domains:SSF49899	tripartite motif-containing 7 isoform 1				ENSP00000274773		7-Jul									COSM3410198,COSM3410199	7-Jul	.		ENST00000274773	Transcript				cytoplasm|nucleus	zinc ion binding	ENSG00000146054	g.chr5:180622296A>G	16278			MODERATE		-2.26	neutral	getma.org/?cm=msa&ty=f&p=TRIM7_HUMAN&rb=394&re=509&var=V469A	getma.org/pdb.php?prot=TRIM7_HUMAN&from=394&to=509&var=V469A	getma.org/?cm=var&var=hg19,5,180622296,A,G&fts=all	V469A	--	--	1																																		TRIM7_uc003mmv.1_Missense_Mutation_p.V287A|TRIM7_uc003mmw.1_Missense_Mutation_p.V261A|TRIM7_uc003mmx.1_Missense_Mutation_p.V261A|TRIM7_uc003mmy.1_Missense_Mutation_p.V261A	1,1	1		benign(0.032)	p.V469A	NM_203293	NP_976038		tolerated(1)	1,1	TRIM7_HUMAN	TRIM7	HGNC	Q9C029	TRIM7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)			7	1473	-	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	UPI000006D24A	469			B30.2/SPRY.		SNV	TRIM7,missense_variant,p.Val261Ala,ENST00000393315,NM_203296.1;TRIM7,missense_variant,p.Val469Ala,ENST00000274773,NM_203293.2;TRIM7,missense_variant,p.Val261Ala,ENST00000361809,NM_203294.1;TRIM7,missense_variant,p.Val287Ala,ENST00000393319,NM_203297.1;TRIM7,missense_variant,p.Val261Ala,ENST00000422067,NM_203295.1;CTC-338M12.2,upstream_gene_variant,,ENST00000513771,;CTC-338M12.6,upstream_gene_variant,,ENST00000511517,;CTC-338M12.6,upstream_gene_variant,,ENST00000509080,;CTC-338M12.6,upstream_gene_variant,,ENST00000502812,;CTC-338M12.6,upstream_gene_variant,,ENST00000512508,;CTC-338M12.5,downstream_gene_variant,,ENST00000508877,;CTC-338M12.6,upstream_gene_variant,,ENST00000419707,;CTC-338M12.5,downstream_gene_variant,,ENST00000514487,;TRIM7,non_coding_transcript_exon_variant,,ENST00000504241,;	uc003mmz.1	c.1406T>C	1468/2840	4	4			c.1406T>C						5	SNP	c.(1405-1407)GTG>GCG	32	32			ovary(2)|skin(1)	3	Broad	tripartite motif-containing 7 isoform 1			180622296		0.672	ENSG00000146054	16293	g.chr5:180622296A>G		cytoplasm|nucleus	zinc ion binding	Esophageal Squamous(128;2258 2308 35507 48647)			Esophageal Squamous(128;2258 2308 35507 48647)			8.722291	KEEP	1	2	-1	2	7	1	2	-1	9.233032	2	7	0.272727	1	0	0	0	0	1	0	0	0	--	--		0	G			TRIM7_uc003mmv.1_Missense_Mutation_p.V287A|TRIM7_uc003mmw.1_Missense_Mutation_p.V261A|TRIM7_uc003mmx.1_Missense_Mutation_p.V261A|TRIM7_uc003mmy.1_Missense_Mutation_p.V261A	117	GBM-12-0615-TP	p.V469A	A	CACGGCTCCCACCTCCAGGTC	NM_203293	NP_976038	180622296	Q9C029	TRIM7_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)	7	1473	-	G	G	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Missense_Mutation	469			B30.2/SPRY.			
TRIM7	0	broad.mit.edu	GRCh37	5	180625194	180625194	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-41-2575-01	TCGA-41-2575-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274773.7:c.1013A>T	p.Lys338Ile	p.K338I	ENST00000274773	NM_203293.2	338	aAa/aTa	0			1			A	K/I	uc003mmz.1	protein_coding	YES	CCDS4462.1			1013/1536									ovary(2)|skin(1)	3	c.(1012-1014)AAA>ATA			PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF221,Low_complexity_(Seg):seg	tripartite motif-containing 7 isoform 1				ENSP00000274773		7-Jun									COSM3410200,COSM3410201	7-Jun	.		ENST00000274773	Transcript				cytoplasm|nucleus	zinc ion binding	ENSG00000146054	g.chr5:180625194T>A	16278			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=TRIM7_HUMAN&rb=324&re=511&var=K338I	getma.org/pdb.php?prot=TRIM7_HUMAN&from=324&to=511&var=K338I	getma.org/?cm=var&var=hg19,5,180625194,T,A&fts=all	K338I	--	--	1																																		TRIM7_uc003mmv.1_Missense_Mutation_p.K156I|TRIM7_uc003mmw.1_Missense_Mutation_p.K130I|TRIM7_uc003mmx.1_Missense_Mutation_p.K130I|TRIM7_uc003mmy.1_Missense_Mutation_p.K130I	1,1	1		possibly_damaging(0.643)	p.K338I	NM_203293	NP_976038		deleterious(0.05)	1,1	TRIM7_HUMAN	TRIM7	HGNC	Q9C029	TRIM7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)			6	1080	-	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	UPI000006D24A	338			B30.2/SPRY.		SNV	TRIM7,missense_variant,p.Lys130Ile,ENST00000393315,NM_203296.1;TRIM7,missense_variant,p.Lys338Ile,ENST00000274773,NM_203293.2;TRIM7,missense_variant,p.Lys130Ile,ENST00000361809,NM_203294.1;TRIM7,missense_variant,p.Lys156Ile,ENST00000393319,NM_203297.1;TRIM7,missense_variant,p.Lys130Ile,ENST00000422067,NM_203295.1;TRIM7,downstream_gene_variant,,ENST00000334421,NM_033342.3;CTC-338M12.6,intron_variant,,ENST00000512508,;CTC-338M12.6,upstream_gene_variant,,ENST00000511517,;CTC-338M12.6,upstream_gene_variant,,ENST00000514784,;CTC-338M12.6,upstream_gene_variant,,ENST00000509080,;CTC-338M12.6,upstream_gene_variant,,ENST00000502812,;CTC-338M12.5,downstream_gene_variant,,ENST00000508877,;CTC-338M12.6,upstream_gene_variant,,ENST00000419707,;CTC-338M12.5,downstream_gene_variant,,ENST00000514487,;TRIM7,non_coding_transcript_exon_variant,,ENST00000504241,;TRIM7,downstream_gene_variant,,ENST00000509199,;	uc003mmz.1	c.1013A>T	1075/2840	2	2			c.1013A>T						5	SNP	c.(1012-1014)AAA>ATA	45	45			ovary(2)|skin(1)	3	Broad	tripartite motif-containing 7 isoform 1			180625194		0.517	ENSG00000146054	16293	g.chr5:180625194T>A		cytoplasm|nucleus	zinc ion binding	Esophageal Squamous(128;2258 2308 35507 48647)			Esophageal Squamous(128;2258 2308 35507 48647)			7.35037	KEEP	3	3	-1	20	16	3	3	-1	11.653867	20	16	0.142857	1	0	0	0	0	1	0	0	0	--	--		0	A			TRIM7_uc003mmv.1_Missense_Mutation_p.K156I|TRIM7_uc003mmw.1_Missense_Mutation_p.K130I|TRIM7_uc003mmx.1_Missense_Mutation_p.K130I|TRIM7_uc003mmy.1_Missense_Mutation_p.K130I	253	GBM-41-2575-TP	p.K338I	T	TTTCTCCTCTTTCTCCAGCTC	NM_203293	NP_976038	180625194	Q9C029	TRIM7_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)	6	1080	-	A	A	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Missense_Mutation	338			B30.2/SPRY.			
TRIM71	131405	broad.mit.edu	GRCh37	3	32933041	32933041	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01	TCGA-06-0174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000383763.5:c.2345G>A	p.Arg782His	p.R782H	ENST00000383763	NM_001039111.1	782	cGc/cAc	0	A:0		1			A	R/H	uc003cff.2	protein_coding	YES	CCDS43060.1			2345/2607									ovary(2)|large_intestine(1)	3	c.(2344-2346)CGC>CAC			Superfamily_domains:SSF101898,Gene3D:2.120.10.30,hmmpanther:PTHR24103:SF281,hmmpanther:PTHR24103,PROSITE_profiles:PS51125	tripartite motif-containing 71			A:0.0001	ENSP00000373272		4-Apr	3.31E-05					6.03E-05			rs373870640,COSM3408600	4-Apr	.		ENST00000383763	Transcript			multicellular organismal development	cytoplasm	zinc ion binding	ENSG00000206557	g.chr3:32933041G>A	32669			MODERATE		1.615	low	getma.org/?cm=msa&ty=f&p=LIN41_HUMAN&rb=745&re=823&var=R782H	getma.org/pdb.php?prot=LIN41_HUMAN&from=775&to=793&var=R782H	getma.org/?cm=var&var=hg19,3,32933041,G,A&fts=all	R782H	--	--	1																																			0,1	1		benign(0.082)	p.R782H	NM_001039111	NP_001034200		deleterious(0.05)	0,1	LIN41_HUMAN	TRIM71	HGNC	Q2Q1W2	LIN41_HUMAN					4	2408	+			UPI000067CB89	782			NHL 5.		SNV	TRIM71,missense_variant,p.Arg782His,ENST00000383763,NM_001039111.1;	uc003cff.2	c.2345G>A	2408/8685	2	2			c.2345G>A						3	SNP	c.(2344-2346)CGC>CAC	34	34			ovary(2)|large_intestine(1)	3	Broad	tripartite motif-containing 71			32933041		0.617	ENSG00000206557	16294	g.chr3:32933041G>A	multicellular organismal development	cytoplasm	zinc ion binding							110.533657	KEEP	16	24	-1	36	26	16	24	-1	110.946955	36	26	0.426966	1	0	0	0	0	1	0	0	0	--	--		0	A				37	GBM-06-0174-TP	p.R782H	G	CAGTCGGCACGCTTTCTGGGC	NM_001039111	NP_001034200	32933041	Q2Q1W2	LIN41_HUMAN	0			4	2408	+	A	A			Missense_Mutation	782			NHL 5.			
TRIM71	131405	broad.mit.edu	GRCh37	3	32859692	32859692	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0195-01	TCGA-06-0195-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000383763.5:c.120G>A	p.Thr40=	p.T40=	ENST00000383763	NM_001039111.1	40	acG/acA	0			1			A	T	uc003cff.2	protein_coding	YES	CCDS43060.1			120/2607									ovary(2)|large_intestine(1)	3	c.(118-120)ACG>ACA			Low_complexity_(Seg):seg,SMART_domains:SM00184,hmmpanther:PTHR24103:SF281,hmmpanther:PTHR24103,PROSITE_profiles:PS50089	tripartite motif-containing 71				ENSP00000373272		4-Jan									COSM3408597	4-Jan	.		ENST00000383763	Transcript			multicellular organismal development	cytoplasm	zinc ion binding	ENSG00000206557	g.chr3:32859692G>A	32669			LOW								--	--	1																																			1	1			p.T40T	NM_001039111	NP_001034200			1	LIN41_HUMAN	TRIM71	HGNC	Q2Q1W2	LIN41_HUMAN					1	183	+			UPI000067CB89	40			RING-type.|Ser-rich.		SNV	TRIM71,synonymous_variant,p.=,ENST00000383763,NM_001039111.1;	uc003cff.2	c.120G>A	183/8685	2	2			c.120G>A						3	SNP	c.(118-120)ACG>ACA	35	35			ovary(2)|large_intestine(1)	3	Broad	tripartite motif-containing 71			32859692		0.532	ENSG00000206557	16294	g.chr3:32859692G>A	multicellular organismal development	cytoplasm	zinc ion binding							25.835599	KEEP	3	7	-1	11	16	3	7	-1	26.979507	11	16	0.30303	1	0	0	0	0	0	0	1	0	--	--		0	A				45	GBM-06-0195-TP	p.T40T	G	AGACGTCCACGTCGTcggggg	NM_001039111	NP_001034200	32859692	Q2Q1W2	LIN41_HUMAN	0			1	183	+	A	A			Silent	40			RING-type.|Ser-rich.			
TRIM71	0	broad.mit.edu	GRCh37	3	32915463	32915463	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5954-01	TCGA-19-5954-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000383763.5:c.1006C>T	p.Arg336Ter	p.R336*	ENST00000383763	NM_001039111.1	336	Cga/Tga	0			1			T	R/*	uc003cff.2	protein_coding	YES	CCDS43060.1			1006/2607								p.R336fs*6(1)	ovary(2)|large_intestine(1)	3	c.(1006-1008)CGA>TGA			hmmpanther:PTHR24103:SF281,hmmpanther:PTHR24103	tripartite motif-containing 71				ENSP00000373272		4-Feb									COSM2156762	4-Feb	.		ENST00000383763	Transcript			multicellular organismal development	cytoplasm	zinc ion binding	ENSG00000206557	g.chr3:32915463C>T	32669			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,3,32915463,C,T&fts=all	R336*	--	--	1																																			1	1			p.R336*	NM_001039111	NP_001034200			1	LIN41_HUMAN	TRIM71	HGNC	Q2Q1W2	LIN41_HUMAN					2	1069	+			UPI000067CB89	336					SNV	TRIM71,stop_gained,p.Arg336Ter,ENST00000383763,NM_001039111.1;	uc003cff.2	c.1006C>T	1069/8685	5	2			c.1006C>T						3	SNP	c.(1006-1008)CGA>TGA	34	34		p.R336fs*6(1)	ovary(2)|large_intestine(1)	3	Broad	tripartite motif-containing 71			32915463		0.612	ENSG00000206557	16294	g.chr3:32915463C>T	multicellular organismal development	cytoplasm	zinc ion binding							82.507378	KEEP	15	19	-1	50	56	15	19	-1	89.870969	50	56	0.253731	1	0	0	0	0	0	1	0	0	--	--		0	T				174	GBM-19-5954-TP	p.R336*	C	CCAGCAGGGACGACAGGCAAT	NM_001039111	NP_001034200	32915463	Q2Q1W2	LIN41_HUMAN	0			2	1069	+	T	T			Nonsense_Mutation	336						
TRIM71	0	broad.mit.edu	GRCh37	3	32932739	32932739	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000383763.5:c.2043G>A	p.Thr681=	p.T681=	ENST00000383763	NM_001039111.1	681	acG/acA	0			1			A	T	uc003cff.2	protein_coding	YES	CCDS43060.1			2043/2607									ovary(2)|large_intestine(1)	3	c.(2041-2043)ACG>ACA			Superfamily_domains:SSF101898,Gene3D:2.120.10.30,hmmpanther:PTHR24103:SF281,hmmpanther:PTHR24103,PROSITE_profiles:PS51125	tripartite motif-containing 71				ENSP00000373272		4-Apr	4.95E-05		0.000173	0.000465					rs761536522,COSM3408599	4-Apr	common_variant		ENST00000383763	Transcript			multicellular organismal development	cytoplasm	zinc ion binding	ENSG00000206557	g.chr3:32932739G>A	32669			LOW								--	--	1																																			0,1	1			p.T681T	NM_001039111	NP_001034200			0,1	LIN41_HUMAN	TRIM71	HGNC	Q2Q1W2	LIN41_HUMAN					4	2106	+			UPI000067CB89	681			NHL 2.		SNV	TRIM71,synonymous_variant,p.=,ENST00000383763,NM_001039111.1;	uc003cff.2	c.2043G>A	2106/8685	2	2			c.2043G>A						3	SNP	c.(2041-2043)ACG>ACA	41	41			ovary(2)|large_intestine(1)	3	Broad	tripartite motif-containing 71			32932739		0.582	ENSG00000206557	16294	g.chr3:32932739G>A	multicellular organismal development	cytoplasm	zinc ion binding							155.621495	KEEP	22	32	-1	29	41	22	32	-1	155.8529	29	41	0.451327	1	0	0	0	0	0	0	1	0	--	--		0	A				197	GBM-27-1838-TP	p.T681T	G	AGATCTTCACGTTCGAGGGCC	NM_001039111	NP_001034200	32932739	Q2Q1W2	LIN41_HUMAN	0			4	2106	+	A	A			Silent	681			NHL 2.			
TRIM71	0	broad.mit.edu	GRCh37	3	32933302	32933302	+	stop_retained_variant	Silent	SNP	A	A	G			TCGA-28-5215-01	TCGA-28-5215-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000383763.5:c.2606A>G	p.Ter869=	p.*869=	ENST00000383763	NM_001039111.1	869	tAa/tGa	0			1			G	*	uc003cff.2	protein_coding	YES	CCDS43060.1			2606/2607									ovary(2)|large_intestine(1)	3	c.(2605-2607)TAA>TGA				tripartite motif-containing 71				ENSP00000373272		4-Apr									COSM3408601	4-Apr	.		ENST00000383763	Transcript			multicellular organismal development	cytoplasm	zinc ion binding	ENSG00000206557	g.chr3:32933302A>G	32669			LOW								--	--	1																																			1	1			p.*869*	NM_001039111	NP_001034200			1	LIN41_HUMAN	TRIM71	HGNC	Q2Q1W2	LIN41_HUMAN					4	2669	+			UPI000067CB89	869					SNV	TRIM71,stop_retained_variant,p.=,ENST00000383763,NM_001039111.1;	uc003cff.2	c.2606A>G	2669/8685	3	3			c.2606A>G						3	SNP	c.(2605-2607)TAA>TGA	64	64			ovary(2)|large_intestine(1)	3	Broad	tripartite motif-containing 71			32933302		0.408	ENSG00000206557	16294	g.chr3:32933302A>G	multicellular organismal development	cytoplasm	zinc ion binding							251.51332	KEEP	45	48	-1	104	83	45	48	-1	259.154148	104	83	0.313008	1	0	0	0	0	0	0	1	0	--	--		0	G				222	GBM-28-5215-TP	p.*869*	A	CTCGTCTTCTAATTGCATTTC	NM_001039111	NP_001034200	32933302	Q2Q1W2	LIN41_HUMAN	0			4	2669	+	G	G			Silent	869						
TRIM71	131405		GRCh37	3	32859711	32859711	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000383763.5:c.139G>A	p.Gly47Arg	p.G47R	ENST00000383763	NM_001039111.1	47	Ggg/Agg	0																																																																																																																																																																																																																																												
TRIM73	0	broad.mit.edu	GRCh37	7	75028495	75028495	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2629-01	TCGA-19-2629-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323819.3:c.278G>A	p.Arg93Gln	p.R93Q	ENST00000323819	NM_198924.3	93	cGg/cAg	0			1			A	R/Q	uc003udc.1	protein_coding	YES	CCDS34665.1			278/753										0	c.(277-279)CGG>CAG			Gene3D:1freA00,Pfam_domain:PF00643,PROSITE_profiles:PS50119,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF295,SMART_domains:SM00336,Superfamily_domains:SSF57845	tripartite motif-containing 73				ENSP00000318615		5-Feb									COSM3412292,COSM3412293	5-Feb	.		ENST00000323819	Transcript				intracellular	zinc ion binding	ENSG00000178809	g.chr7:75028495G>A	18162			MODERATE		-0.265	neutral	getma.org/?cm=msa&ty=f&p=TRI73_HUMAN&rb=84&re=125&var=R93Q	getma.org/pdb.php?prot=TRI73_HUMAN&from=84&to=125&var=R93Q	getma.org/?cm=var&var=hg19,7,75028495,G,A&fts=all	R93Q	--	--	1																																		TRIM74_uc010ldc.2_Missense_Mutation_p.R93Q|TRIM74_uc010ldd.2_Missense_Mutation_p.R93Q	1,1	1		benign(0.037)	p.R93Q	NM_198924	NP_944606		tolerated(0.48)	1,1	TRI73_HUMAN	TRIM73	HGNC	Q86UV6	TRI74_HUMAN			C9JQH3_HUMAN		2	478	+			UPI0000192111	93			B box-type.		SNV	TRIM73,missense_variant,p.Arg93Gln,ENST00000323819,NM_198924.3;TRIM73,missense_variant,p.Arg93Gln,ENST00000430211,;TRIM73,missense_variant,p.Arg93Gln,ENST00000447409,;TRIM73,missense_variant,p.Arg93Gln,ENST00000437796,;TRIM73,5_prime_UTR_variant,,ENST00000450434,;STAG3L1,downstream_gene_variant,,ENST00000402225,;AC006014.8,upstream_gene_variant,,ENST00000275590,;STAG3L1,downstream_gene_variant,,ENST00000404291,;TRIM73,downstream_gene_variant,,ENST00000463766,;TRIM73,upstream_gene_variant,,ENST00000483979,;AC006014.8,upstream_gene_variant,,ENST00000416371,;	uc003udc.1	c.278G>A	478/1350	2	2			c.278G>A						7	SNP	c.(277-279)CGG>CAG	36	36				0	Broad	tripartite motif-containing 73			75028495		0.667	ENSG00000178809	16297	g.chr7:75028495G>A		intracellular	zinc ion binding							-10.151619	KEEP	1	3	-1	79	53	1	3	-1	6.585765	79	53	0.040541	1	0	0	0	0	1	0	0	0	--	--		0	A			TRIM74_uc010ldc.2_Missense_Mutation_p.R93Q|TRIM74_uc010ldd.2_Missense_Mutation_p.R93Q	166	GBM-19-2629-TP	p.R93Q	G	GTGCACCACCGGAACCCGCTC	NM_198924	NP_944606	75028495	Q86UV6	TRI74_HUMAN	0			2	478	+	A	A			Missense_Mutation	93			B box-type.			
TRIM8	0	broad.mit.edu	GRCh37	10	104404874	104404874	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01	TCGA-14-1450-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302424.7:c.500G>A	p.Cys167Tyr	p.C167Y	ENST00000302424	NM_030912.2	167	tGc/tAc	0			1			A	C/Y	uc001kvz.2	protein_coding	YES	CCDS31274.1			500/1656									ovary(1)	1	c.(499-501)TGC>TAC			hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF114,Gene3D:1freA00,Superfamily_domains:SSF57845	tripartite motif-containing 8				ENSP00000302120		6-Jan									COSM3396888	6-Jan	.		ENST00000302424	Transcript				cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding	ENSG00000171206	g.chr10:104404874G>A	15579			MODERATE		3.385	medium	getma.org/?cm=msa&ty=f&p=TRIM8_HUMAN&rb=56&re=186&var=C167Y	NA	getma.org/?cm=var&var=hg19,10,104404874,G,A&fts=all	C167Y	--	--	1																																			1	1		probably_damaging(0.997)	p.C167Y	NM_030912	NP_112174		deleterious(0)	1	TRIM8_HUMAN	TRIM8	HGNC	Q9BZR9	TRIM8_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Q5JSM3_HUMAN		1	623	+		Colorectal(252;0.122)	UPI0000134321	167			B box-type 2.		SNV	TRIM8,missense_variant,p.Cys167Tyr,ENST00000302424,NM_030912.2;TRIM8,missense_variant,p.Cys78Tyr,ENST00000462202,;RP11-47A8.5,upstream_gene_variant,,ENST00000607967,;TRIM8,upstream_gene_variant,,ENST00000487927,;	uc001kvz.2	c.500G>A	622/2831	2	2			c.500G>A						10	SNP	c.(499-501)TGC>TAC	34	34			ovary(1)	1	Broad	tripartite motif-containing 8			104404874		0.652	ENSG00000171206	16298	g.chr10:104404874G>A		cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding							28.116955	KEEP	4	8	-1	9	6	4	8	-1	28.153714	9	6	0.458333	1	0	0	0	0	1	0	0	0	--	--		0	A				145	GBM-14-1450-TP	p.C167Y	G	TGCCAGTACTGCTGCTACTAC	NM_030912	NP_112174	104404874	Q9BZR9	TRIM8_HUMAN	0		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	1	623	+	A	A		Colorectal(252;0.122)	Missense_Mutation	167			B box-type 2.			
TRIML1	339976	broad.mit.edu	GRCh37	4	189068289	189068289	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0173-01	TCGA-06-0173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332517.3:c.1170G>T	p.Trp390Cys	p.W390C	ENST00000332517	NM_178556.3	390	tgG/tgT	0			1			T	W/C	uc003izm.1	protein_coding	YES	CCDS3851.1			1170/1407									ovary(1)|pancreas(1)|breast(1)|skin(1)	4	c.(1168-1170)TGG>TGT			Pfam_domain:PF00622,PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF291,SMART_domains:SM00449,Superfamily_domains:SSF49899	tripartite motif family-like 1				ENSP00000327738		6-Jun									COSM2150429	6-Jun	.		ENST00000332517	Transcript			multicellular organismal development		ligase activity|zinc ion binding	ENSG00000184108	g.chr4:189068289G>T	26698			MODERATE		1.52	low	getma.org/?cm=msa&ty=f&p=TRIML_HUMAN&rb=338&re=456&var=W390C	getma.org/pdb.php?prot=TRIML_HUMAN&from=338&to=456&var=W390C	getma.org/?cm=var&var=hg19,4,189068289,G,T&fts=all	W390C	--	--	1																																		TRIML1_uc003izn.1_Missense_Mutation_p.W114C	1	1		probably_damaging(1)	p.W390C	NM_178556	NP_848651		deleterious(0)	1	TRIML_HUMAN	TRIML1	HGNC	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)			6	1285	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	UPI000006FC8A	390			B30.2/SPRY.		SNV	TRIML1,missense_variant,p.Trp390Cys,ENST00000332517,NM_178556.3;RP11-366H4.3,upstream_gene_variant,,ENST00000501322,;TRIML1,non_coding_transcript_exon_variant,,ENST00000507581,;TRIML1,non_coding_transcript_exon_variant,,ENST00000512233,;	uc003izm.1	c.1170G>T	1310/1797	1	1			c.1170G>T						4	SNP	c.(1168-1170)TGG>TGT	1	1			ovary(1)|pancreas(1)|breast(1)|skin(1)	4	Broad	tripartite motif family-like 1			189068289		0.488	ENSG00000184108	16300	g.chr4:189068289G>T	multicellular organismal development		ligase activity|zinc ion binding	Melanoma(31;213 1036 16579 23968 32372)			Melanoma(31;213 1036 16579 23968 32372)			250.03956	KEEP	47	47	0.5	66	62	47	47	0.5	250.961621	66	62	0.427136	1	0	0	0	0	1	0	0	0	--	--		0	T			TRIML1_uc003izn.1_Missense_Mutation_p.W114C	36	GBM-06-0173-TP	p.W390C	G	ACAGCCTCTGGGTCTCGTCAC	NM_178556	NP_848651	189068289	Q8N9V2	TRIML_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	6	1285	+	T	T		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	Missense_Mutation	390			B30.2/SPRY.			
TRIML1	339976	broad.mit.edu	GRCh37	4	189068102	189068102	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs147254109		TCGA-06-5859-01	TCGA-06-5859-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332517.3:c.983C>T	p.Ala328Val	p.A328V	ENST00000332517	NM_178556.3	328	gCg/gTg	0	T:0.0005	T:0.0008	1	T:0		T	A/V	uc003izm.1	protein_coding	YES	CCDS3851.1			983/1407									ovary(1)|pancreas(1)|breast(1)|skin(1)	4	c.(982-984)GCG>GTG			Pfam_domain:PF13765,Prints_domain:PR01407,PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF291,SMART_domains:SM00589,Superfamily_domains:SSF49899	tripartite motif family-like 1		T:0	T:0	ENSP00000327738	T:0	6-Jun	3.33E-05	0.000294							rs147254109,COSM209202	6-Jun	.		ENST00000332517	Transcript		T:0.0002	multicellular organismal development		ligase activity|zinc ion binding	ENSG00000184108	g.chr4:189068102C>T	26698			MODERATE		1.315	low	getma.org/?cm=msa&ty=f&p=TRIML_HUMAN&rb=288&re=336&var=A328V	getma.org/pdb.php?prot=TRIML_HUMAN&from=288&to=336&var=A328V	getma.org/?cm=var&var=hg19,4,189068102,C,T&fts=all	A328V	--	--	1																																		TRIML1_uc003izn.1_Missense_Mutation_p.A52V	0,1	1		probably_damaging(0.999)	p.A328V	NM_178556	NP_848651	T:0	tolerated(0.18)	0,1	TRIML_HUMAN	TRIML1	HGNC	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)			6	1098	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	UPI000006FC8A	328			B30.2/SPRY.		SNV	TRIML1,missense_variant,p.Ala328Val,ENST00000332517,NM_178556.3;RP11-366H4.3,upstream_gene_variant,,ENST00000501322,;TRIML1,non_coding_transcript_exon_variant,,ENST00000507581,;TRIML1,non_coding_transcript_exon_variant,,ENST00000512233,;	uc003izm.1	c.983C>T	1123/1797	2	2			c.983C>T						4	SNP	c.(982-984)GCG>GTG	26	26			ovary(1)|pancreas(1)|breast(1)|skin(1)	4	Broad	tripartite motif family-like 1			189068102		0.537	ENSG00000184108	16300	g.chr4:189068102C>T	multicellular organismal development		ligase activity|zinc ion binding	Melanoma(31;213 1036 16579 23968 32372)			Melanoma(31;213 1036 16579 23968 32372)			154.34096	KEEP	23	34	-1	22	21	23	34	-1	154.491307	22	21	0.543478	1	0	0	0	0	1	0	0	0	--	--		0	T			TRIML1_uc003izn.1_Missense_Mutation_p.A52V	103	GBM-06-5859-TP	p.A328V	C	GACCAGTCTGCGACTGTGCTG	NM_178556	NP_848651	189068102	Q8N9V2	TRIML_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	6	1098	+	T	T		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	Missense_Mutation	328			B30.2/SPRY.			
TRIML1	0	broad.mit.edu	GRCh37	4	189060967	189060967	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0692-01	TCGA-12-0692-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332517.3:c.255G>A	p.Val85=	p.V85=	ENST00000332517	NM_178556.3	85	gtG/gtA	0			1			A	V	uc003izm.1	protein_coding	YES	CCDS3851.1			255/1407									ovary(1)|pancreas(1)|breast(1)|skin(1)	4	c.(253-255)GTG>GTA			hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF291,Superfamily_domains:SSF57850	tripartite motif family-like 1				ENSP00000327738		6-Jan									COSM3409215	6-Jan	.		ENST00000332517	Transcript			multicellular organismal development		ligase activity|zinc ion binding	ENSG00000184108	g.chr4:189060967G>A	26698			LOW								--	--	1																																			1	1			p.V85V	NM_178556	NP_848651			1	TRIML_HUMAN	TRIML1	HGNC	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)			1	370	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	UPI000006FC8A	85					SNV	TRIML1,synonymous_variant,p.=,ENST00000332517,NM_178556.3;RP11-366H4.3,downstream_gene_variant,,ENST00000501322,;TRIML1,upstream_gene_variant,,ENST00000507581,;TRIML1,upstream_gene_variant,,ENST00000512233,;	uc003izm.1	c.255G>A	395/1797	2	2			c.255G>A						4	SNP	c.(253-255)GTG>GTA	48	48			ovary(1)|pancreas(1)|breast(1)|skin(1)	4	Broad	tripartite motif family-like 1			189060967		0.652	ENSG00000184108	16300	g.chr4:189060967G>A	multicellular organismal development		ligase activity|zinc ion binding	Melanoma(31;213 1036 16579 23968 32372)			Melanoma(31;213 1036 16579 23968 32372)			4.814571	KEEP	4	5	-1	56	43	4	5	-1	19.450639	56	43	0.098901	1	0	0	0	0	0	0	1	0	--	--		0	A				122	GBM-12-0692-TP	p.V85V	G	GGTCCCAGGTGCTGCAGAGCG	NM_178556	NP_848651	189060967	Q8N9V2	TRIML_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	1	370	+	A	A		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	Silent	85						
TRIML1	0	broad.mit.edu	GRCh37	4	189063477	189063477	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-12-5295-01	TCGA-12-5295-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332517.3:c.576G>C	p.Glu192Asp	p.E192D	ENST00000332517	NM_178556.3	192	gaG/gaC	0			1			C	E/D	uc003izm.1	protein_coding	YES	CCDS3851.1			576/1407									ovary(1)|pancreas(1)|breast(1)|skin(1)	4	c.(574-576)GAG>GAC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF291,Low_complexity_(Seg):seg	tripartite motif family-like 1				ENSP00000327738		6-Mar									COSM3409216	6-Mar	.		ENST00000332517	Transcript			multicellular organismal development		ligase activity|zinc ion binding	ENSG00000184108	g.chr4:189063477G>C	26698			MODERATE		3.35	medium	getma.org/?cm=msa&ty=f&p=TRIML_HUMAN&rb=135&re=223&var=E192D	NA	getma.org/?cm=var&var=hg19,4,189063477,G,C&fts=all	E192D	--	--	1																																		TRIML1_uc003izn.1_5'Flank	1	1		probably_damaging(0.99)	p.E192D	NM_178556	NP_848651		deleterious(0.01)	1	TRIML_HUMAN	TRIML1	HGNC	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)			3	691	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	UPI000006FC8A	192			Potential.		SNV	TRIML1,missense_variant,p.Glu192Asp,ENST00000332517,NM_178556.3;RP11-366H4.3,intron_variant,,ENST00000501322,;TRIML1,upstream_gene_variant,,ENST00000507581,;TRIML1,upstream_gene_variant,,ENST00000512233,;	uc003izm.1	c.576G>C	716/1797	3	3			c.576G>C						4	SNP	c.(574-576)GAG>GAC	1	1			ovary(1)|pancreas(1)|breast(1)|skin(1)	4	Broad	tripartite motif family-like 1			189063477		0.388	ENSG00000184108	16300	g.chr4:189063477G>C	multicellular organismal development		ligase activity|zinc ion binding	Melanoma(31;213 1036 16579 23968 32372)			Melanoma(31;213 1036 16579 23968 32372)			69.693639	KEEP	8	18	-1	23	35	8	18	-1	72.483	23	35	0.298701	1	0	0	0	0	1	0	0	0	--	--		0	C			TRIML1_uc003izn.1_5'Flank	129	GBM-12-5295-TP	p.E192D	G	TGAAGGAAGAGGAGCAGCTGC	NM_178556	NP_848651	189063477	Q8N9V2	TRIML_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	3	691	+	C	C		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	Missense_Mutation	192			Potential.			
TRIML1	0	broad.mit.edu	GRCh37	4	189068417	189068417	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01	TCGA-41-4097-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332517.3:c.1298C>T	p.Pro433Leu	p.P433L	ENST00000332517	NM_178556.3	433	cCg/cTg	0			1			T	P/L	uc003izm.1	protein_coding	YES	CCDS3851.1			1298/1407									ovary(1)|pancreas(1)|breast(1)|skin(1)	4	c.(1297-1299)CCG>CTG			Pfam_domain:PF00622,Prints_domain:PR01407,PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF291,SMART_domains:SM00449,Superfamily_domains:SSF49899	tripartite motif family-like 1				ENSP00000327738		6-Jun	2.47E-05					1.55E-05		0.000164	rs747832657,COSM2155058	6-Jun	.		ENST00000332517	Transcript			multicellular organismal development		ligase activity|zinc ion binding	ENSG00000184108	g.chr4:189068417C>T	26698			MODERATE		1.175	low	getma.org/?cm=msa&ty=f&p=TRIML_HUMAN&rb=338&re=456&var=P433L	getma.org/pdb.php?prot=TRIML_HUMAN&from=338&to=456&var=P433L	getma.org/?cm=var&var=hg19,4,189068417,C,T&fts=all	P433L	--	--	1																																		TRIML1_uc003izn.1_Missense_Mutation_p.P157L	0,1	1		probably_damaging(1)	p.P433L	NM_178556	NP_848651		tolerated(0.14)	0,1	TRIML_HUMAN	TRIML1	HGNC	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)			6	1413	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	UPI000006FC8A	433			B30.2/SPRY.		SNV	TRIML1,missense_variant,p.Pro433Leu,ENST00000332517,NM_178556.3;RP11-366H4.3,upstream_gene_variant,,ENST00000501322,;TRIML1,non_coding_transcript_exon_variant,,ENST00000507581,;TRIML1,non_coding_transcript_exon_variant,,ENST00000512233,;	uc003izm.1	c.1298C>T	1438/1797	1	1			c.1298C>T						4	SNP	c.(1297-1299)CCG>CTG	1	1			ovary(1)|pancreas(1)|breast(1)|skin(1)	4	Broad	tripartite motif family-like 1			189068417		0.522	ENSG00000184108	16300	g.chr4:189068417C>T	multicellular organismal development		ligase activity|zinc ion binding	Melanoma(31;213 1036 16579 23968 32372)			Melanoma(31;213 1036 16579 23968 32372)			155.021256	KEEP	30	36	-1	88	96	30	36	-1	166.048301	88	96	0.262673	1	0	0	0	0	1	0	0	0	--	--		0	T			TRIML1_uc003izn.1_Missense_Mutation_p.P157L	257	GBM-41-4097-TP	p.P433L	C	TACAGCTTCCCGCAGGCTTCT	NM_178556	NP_848651	189068417	Q8N9V2	TRIML_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	6	1413	+	T	T		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	Missense_Mutation	433			B30.2/SPRY.			
TRIML2	205860	broad.mit.edu	GRCh37	4	189012897	189012897	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0171-01	TCGA-06-0171-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000512729.1:c.794G>T	p.Arg265Met	p.R265M	ENST00000512729	NM_173553.1	265	aGg/aTg	0			1			A	R/M	uc003izl.2	protein_coding	YES	CCDS3850.1			794/1164									central_nervous_system(2)	2	c.(793-795)AGG>ATG			PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF267,hmmpanther:PTHR24103,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899	tripartite motif family-like 2				ENSP00000422581		7-Jul									COSM2150336	7-Jul	.		ENST00000512729	Transcript					ligase activity	ENSG00000179046	g.chr4:189012897C>A	26378			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=TRIMM_HUMAN&rb=251&re=368&var=R265M	getma.org/pdb.php?prot=TRIMM_HUMAN&from=251&to=368&var=R265M	getma.org/?cm=var&var=hg19,4,189012897,C,A&fts=all	R265M	--	--	1																																		TRIML2_uc003izj.1_Missense_Mutation_p.R93M|TRIML2_uc003izk.1_Missense_Mutation_p.R73M|TRIML2_uc011cle.1_Missense_Mutation_p.R340M	1	1		possibly_damaging(0.814)	p.R265M	NM_173553	NP_775824		deleterious(0.01)	1	TRIMM_HUMAN	TRIML2	HGNC	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)			7	830	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	UPI000007300A	265			B30.2/SPRY.		SNV	TRIML2,missense_variant,p.Arg265Met,ENST00000512729,NM_173553.1;TRIML2,missense_variant,p.Arg290Met,ENST00000326754,;TRIML2,3_prime_UTR_variant,,ENST00000503141,;TRIML2,3_prime_UTR_variant,,ENST00000503475,;	uc003izl.2	c.794G>T	1169/1639	2	2			c.794G>T						4	SNP	c.(793-795)AGG>ATG	48	48			central_nervous_system(2)	2	Broad	tripartite motif family-like 2			189012897		0.602	ENSG00000179046	16301	g.chr4:189012897C>A			ligase activity							317.548655	KEEP	64	70	0.52238806	117	162	64	70	0.52238806	327.971778	117	162	0.321526	1	0	0	0	0	1	0	0	0	--	--		0	A			TRIML2_uc003izj.1_Missense_Mutation_p.R93M|TRIML2_uc003izk.1_Missense_Mutation_p.R73M|TRIML2_uc011cle.1_Missense_Mutation_p.R340M	35	GBM-06-0171-TP	p.R265M	C	CACTTGCCACCTGGTTGCCTT	NM_173553	NP_775824	189012897	Q8N7C3	TRIMM_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	7	830	-	A	A		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	Missense_Mutation	265			B30.2/SPRY.			
TRIML2	0	broad.mit.edu	GRCh37	4	189018255	189018255	+	synonymous_variant	Silent	SNP	G	G	A	rs144128750		TCGA-76-4935-01	TCGA-76-4935-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000512729.1:c.555C>T	p.Cys185=	p.C185=	ENST00000512729	NM_173553.1	185	tgC/tgT	0	A:0		1			A	C	uc003izl.2	protein_coding	YES	CCDS3850.1			555/1164									central_nervous_system(2)	2	c.(553-555)TGC>TGT			PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF267,hmmpanther:PTHR24103	tripartite motif family-like 2			A:0.0002	ENSP00000422581		7-Jun	2.47E-05	9.61E-05				3.00E-05			rs144128750,COSM3409214	7-Jun	.		ENST00000512729	Transcript					ligase activity	ENSG00000179046	g.chr4:189018255G>A	26378			LOW								--	--	1																																		TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc011cle.1_Silent_p.C260C	0,1	1			p.C185C	NM_173553	NP_775824			0,1	TRIMM_HUMAN	TRIML2	HGNC	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)			6	591	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	UPI000007300A	185			B30.2/SPRY.		SNV	TRIML2,synonymous_variant,p.=,ENST00000512729,NM_173553.1;TRIML2,synonymous_variant,p.=,ENST00000326754,;TRIML2,downstream_gene_variant,,ENST00000536972,;TRIML2,3_prime_UTR_variant,,ENST00000503141,;TRIML2,3_prime_UTR_variant,,ENST00000503475,;TRIML2,downstream_gene_variant,,ENST00000511771,;	uc003izl.2	c.555C>T	930/1639	2	2			c.555C>T						4	SNP	c.(553-555)TGC>TGT	37	37			central_nervous_system(2)	2	Broad	tripartite motif family-like 2			189018255		0.493	ENSG00000179046	16301	g.chr4:189018255G>A			ligase activity							-40.3938	KEEP	3	2	-1	92	117	3	2	-1	6.843888	92	117	0.021622	1	0	0	0	0	0	0	1	0	--	--		0	A			TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc011cle.1_Silent_p.C260C	273	GBM-76-4935-TP	p.C185C	G	CTCTTATGTGGCATAAACTCA	NM_173553	NP_775824	189018255	Q8N7C3	TRIMM_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	6	591	-	A	A		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	Silent	185			B30.2/SPRY.			
TRIO	0	broad.mit.edu	GRCh37	5	14389446	14389446	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-6192-01	TCGA-76-6192-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344204.4:c.3997A>G	p.Ile1333Val	p.I1333V	ENST00000344204	NM_007118.2	1333	Att/Gtt	0			1			G	I/V	uc003jff.2	protein_coding	YES	CCDS3883.1			3997/9294									skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	c.(3997-3999)ATT>GTT			Gene3D:1.20.900.10,Pfam_domain:PF00621,PROSITE_profiles:PS50010,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF104,SMART_domains:SM00325,Superfamily_domains:SSF48065	triple functional domain (PTPRF interacting)				ENSP00000339299		25/57	1.65E-05							0.000126	rs770762103,COSM3409964	25/57	.		ENST00000344204	Transcript	1		apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	ENSG00000038382	g.chr5:14389446A>G	12303			MODERATE		1.13	low	getma.org/?cm=msa&ty=f&p=TRIO_HUMAN&rb=1296&re=1466&var=I1333V	getma.org/pdb.php?prot=TRIO_HUMAN&from=1296&to=1466&var=I1333V	getma.org/?cm=var&var=hg19,5,14389446,A,G&fts=all	I1333V	--	--	1																																		TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.I1284V|TRIO_uc003jfh.1_Missense_Mutation_p.I982V	0,1	1		benign(0.063)	p.I1333V	NM_007118	NP_009049			0,1	TRIO_HUMAN	TRIO	HGNC	O75962	TRIO_HUMAN					25	4003	+	Lung NSC(4;0.000742)		UPI000034ECE6	1333			DH 1.		SNV	TRIO,missense_variant,p.Ile1333Val,ENST00000344204,NM_007118.2;TRIO,missense_variant,p.Ile1333Val,ENST00000537187,;TRIO,missense_variant,p.Ile1066Val,ENST00000513206,;TRIO,missense_variant,p.Ile1284Val,ENST00000509967,;TRIO,missense_variant,p.Ile1274Val,ENST00000512070,;TRIO,non_coding_transcript_exon_variant,,ENST00000515144,;TRIO,non_coding_transcript_exon_variant,,ENST00000502490,;TRIO,downstream_gene_variant,,ENST00000510757,;	uc003jff.2	c.3997A>G	4021/11100	3	3			c.3997A>G						5	SNP	c.(3997-3999)ATT>GTT	13	13			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Broad	triple functional domain (PTPRF interacting)			14389446		0.408	ENSG00000038382	16302	g.chr5:14389446A>G	apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			1300			1300	20.178416	KEEP	4	5	-1	14	24	4	5	-1	23.124614	14	24	0.210526	1	0	0	0	0	1	0	0	0	--	--		0	G			TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.I1284V|TRIO_uc003jfh.1_Missense_Mutation_p.I982V	275	GBM-76-6192-TP	p.I1333V	A	TCCACCTGGCATTGTAAACAA	NM_007118	NP_009049	14389446	O75962	TRIO_HUMAN	0			25	4003	+	G	G	Lung NSC(4;0.000742)		Missense_Mutation	1333			DH 1.			
TRIOBP	11078	broad.mit.edu	GRCh37	22	38119624	38119624	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-1804-01	TCGA-06-1804-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000406386.3:c.1061C>A	p.Pro354His	p.P354H	ENST00000406386	NM_001039141.2	354	cCc/cAc	0		A:0	1	A:0		A	P/H	uc003atr.2	protein_coding	YES	CCDS43015.1			1061/7098									central_nervous_system(1)	1	c.(1060-1062)CCC>CAC				TRIO and F-actin binding protein isoform 6		A:0.001		ENSP00000384312	A:0	24-Jul									rs559855483,COSM2152487	24-Jul	.		ENST00000406386	Transcript	1	A:0.0002	actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	ENSG00000100106	g.chr22:38119624C>A	17009			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=TARA_HUMAN&rb=341&re=979&var=P354H	NA	getma.org/?cm=var&var=hg19,22,38119624,C,A&fts=all	P354H	--	--	1																																		TRIOBP_uc003atu.2_Missense_Mutation_p.P182H|TRIOBP_uc003atq.1_Missense_Mutation_p.P354H|TRIOBP_uc003ats.1_Missense_Mutation_p.P182H	0,1	1		benign(0.073)	p.P354H	NM_001039141	NP_001034230	A:0	deleterious_low_confidence(0.01)	0,1	TARA_HUMAN	TRIOBP	HGNC	Q9H2D6	TARA_HUMAN			F6WYE2_HUMAN,F6WMF4_HUMAN		7	1332	+	Melanoma(58;0.0574)		UPI000067CB88	354					SNV	TRIOBP,missense_variant,p.Pro354His,ENST00000406386,NM_001039141.2;NOL12,3_prime_UTR_variant,,ENST00000455236,;TRIOBP,3_prime_UTR_variant,,ENST00000344404,;TRIOBP,non_coding_transcript_exon_variant,,ENST00000492485,;	uc003atr.2	c.1061C>A	1316/10129	2	2			c.1061C>A						22	SNP	c.(1060-1062)CCC>CAC	42	42			central_nervous_system(1)	1	Broad	TRIO and F-actin binding protein isoform 6			38119624		0.577	ENSG00000100106	16303	g.chr22:38119624C>A	actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding							311.823442	KEEP	53	56	0.513761468	21	48	53	56	0.513761468	313.660681	21	48	0.613497	1	0	0	0	0	1	0	0	0	--	--		0	A			TRIOBP_uc003atu.2_Missense_Mutation_p.P182H|TRIOBP_uc003atq.1_Missense_Mutation_p.P354H|TRIOBP_uc003ats.1_Missense_Mutation_p.P182H	79	GBM-06-1804-TP	p.P354H	C	CTGGATAACCCCAGAACCTCT	NM_001039141	NP_001034230	38119624	Q9H2D6	TARA_HUMAN	0			7	1332	+	A	A	Melanoma(58;0.0574)		Missense_Mutation	354						
TRIOBP	0	broad.mit.edu	GRCh37	22	38120676	38120676	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01	TCGA-76-4934-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000406386.3:c.2113G>A	p.Asp705Asn	p.D705N	ENST00000406386	NM_001039141.2	705	Gat/Aat	0			1			A	D/N	uc003atr.2	protein_coding	YES	CCDS43015.1			2113/7098									central_nervous_system(1)	1	c.(2113-2115)GAT>AAT				TRIO and F-actin binding protein isoform 6				ENSP00000384312		24-Jul									rs761994874,COSM1034043	24-Jul	.		ENST00000406386	Transcript	1		actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	ENSG00000100106	g.chr22:38120676G>A	17009			MODERATE		-0.805	neutral	getma.org/?cm=msa&ty=f&p=TARA_HUMAN&rb=341&re=979&var=D705N	NA	getma.org/?cm=var&var=hg19,22,38120676,G,A&fts=all	D705N	--	--	1																																		TRIOBP_uc003atu.2_Missense_Mutation_p.D533N|TRIOBP_uc003atq.1_Missense_Mutation_p.D705N|TRIOBP_uc003ats.1_Missense_Mutation_p.D533N	0,1	1		benign(0)	p.D705N	NM_001039141	NP_001034230		tolerated_low_confidence(1)	0,1	TARA_HUMAN	TRIOBP	HGNC	Q9H2D6	TARA_HUMAN			F6WYE2_HUMAN,F6WMF4_HUMAN		7	2384	+	Melanoma(58;0.0574)		UPI000067CB88	705					SNV	TRIOBP,missense_variant,p.Asp705Asn,ENST00000406386,NM_001039141.2;NOL12,3_prime_UTR_variant,,ENST00000455236,;TRIOBP,3_prime_UTR_variant,,ENST00000344404,;TRIOBP,non_coding_transcript_exon_variant,,ENST00000492485,;	uc003atr.2	c.2113G>A	2368/10129	2	2			c.2113G>A						22	SNP	c.(2113-2115)GAT>AAT	20	20			central_nervous_system(1)	1	Broad	TRIO and F-actin binding protein isoform 6			38120676		0.582	ENSG00000100106	16303	g.chr22:38120676G>A	actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding							-19.517451	KEEP	1	5	-1	59	76	1	5	-1	7.5609	59	76	0.04878	1	0	0	0	0	1	0	0	0	--	--		0	A			TRIOBP_uc003atu.2_Missense_Mutation_p.D533N|TRIOBP_uc003atq.1_Missense_Mutation_p.D705N|TRIOBP_uc003ats.1_Missense_Mutation_p.D533N	272	GBM-76-4934-TP	p.D705N	G	CCAACGGGACGATCCCAGAGC	NM_001039141	NP_001034230	38120676	Q9H2D6	TARA_HUMAN	0			7	2384	+	A	A	Melanoma(58;0.0574)		Missense_Mutation	705						
TRIOBP	0	broad.mit.edu	GRCh37	22	38119882	38119884	+	inframe_deletion	In_Frame_Del	DEL	CCT	CCT	-			TCGA-76-4934-01	TCGA-76-4934-01	CCT	CCT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000406386.3:c.1323_1325delCTC	p.Ser442del	p.S442del	ENST00000406386	NM_001039141.2	440	gCCTcc/gcc	0	-:0.0022		1			-	AS/A	uc003atr.2	protein_coding	YES	CCDS43015.1			1319-1321/7098									central_nervous_system(1)	1	c.(1318-1323)GCCTCC>GCC				TRIO and F-actin binding protein isoform 6			-:0.0013	ENSP00000384312		24-Jul	3.31E-05					1.50E-05		0.000182	rs761571221	24-Jul	.		ENST00000406386	Transcript	1		actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	ENSG00000100106	g.chr22:38119882_38119884delCCT	17009	4		MODERATE								--	--	1																																		TRIOBP_uc003atu.2_In_Frame_Del_p.S270del|TRIOBP_uc003atq.1_In_Frame_Del_p.S442del|TRIOBP_uc003ats.1_In_Frame_Del_p.S270del		1			p.S442del	NM_001039141	NP_001034230				TARA_HUMAN	TRIOBP	HGNC	Q9H2D6	TARA_HUMAN			F6WYE2_HUMAN,F6WMF4_HUMAN		7	1590_1592	+	Melanoma(58;0.0574)		UPI000067CB88	442					deletion	TRIOBP,inframe_deletion,p.Ser442del,ENST00000406386,NM_001039141.2;NOL12,3_prime_UTR_variant,,ENST00000455236,;TRIOBP,3_prime_UTR_variant,,ENST00000344404,;TRIOBP,non_coding_transcript_exon_variant,,ENST00000492485,;	uc003atr.2	c.1319_1321delCCT	1574-1576/10129	5	5			c.1319_1321delCCT						22	DEL	c.(1318-1323)GCCTCC>GCC	38	38			central_nervous_system(1)	1	Broad	TRIO and F-actin binding protein isoform 6			38119884		0.601	ENSG00000100106	16303	g.chr22:38119882_38119884delCCT	actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding																				0.06	1	1	0	1	0	0	0	0	0	--	--		0	-			TRIOBP_uc003atu.2_In_Frame_Del_p.S270del|TRIOBP_uc003atq.1_In_Frame_Del_p.S442del|TRIOBP_uc003ats.1_In_Frame_Del_p.S270del	272	GBM-76-4934-TP	p.S442del	CCT	AATCCCAGAGCCTCCTCTCCCAG	NM_001039141	NP_001034230	38119882	Q9H2D6	TARA_HUMAN	0			7	1590_1592	+	-	-	Melanoma(58;0.0574)		In_Frame_Del	442						
TRIP11	0	broad.mit.edu	GRCh37	14	92470681	92470681	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0789-01	TCGA-14-0789-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267622.4:c.3639G>A	p.Lys1213=	p.K1213=	ENST00000267622	NM_004239.3	1213	aaG/aaA	0			1			T	K	uc001xzy.2	protein_coding	YES	CCDS9899.1			3639/5940	T		PDGFRB		AML			p.K1213N(1)	ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13	c.(3637-3639)AAG>AAA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18921,hmmpanther:PTHR18921:SF2	thyroid hormone receptor interactor 11				ENSP00000267622		21-Nov									COSM1371574	21-Nov	.		ENST00000267622	Transcript	1		transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	ENSG00000100815	g.chr14:92470681C>T	12305			LOW								--	--	1																																		TRIP11_uc010auf.1_Silent_p.K949K	1	1			p.K1213K	NM_004239	NP_004230			1	TRIPB_HUMAN	TRIP11	HGNC	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	G3V4R7_HUMAN		11	4427	-			UPI000013D767	1213			Potential.		SNV	TRIP11,synonymous_variant,p.=,ENST00000267622,NM_004239.3;TRIP11,synonymous_variant,p.=,ENST00000554357,;TRIP11,upstream_gene_variant,,ENST00000557017,;	uc001xzy.2	c.3639G>A	4013/9996	2	2			c.3639G>A	T		PDGFRB		AML	14	SNP	c.(3637-3639)AAG>AAA	48	48		p.K1213N(1)	ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13	Broad	thyroid hormone receptor interactor 11			92470681		0.428	ENSG00000100815	16305	g.chr14:92470681C>T	transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	Ovarian(84;609 1888 9852 42686)	p.K949N(HCC38-Tumor)	1481	Ovarian(84;609 1888 9852 42686)	p.K949N(HCC38-Tumor)	1481	86.481166	KEEP	23	12	-1	67	45	23	12	-1	94.740882	67	45	0.244604	1	0	0	0	0	0	0	1	0	--	--		0	T			TRIP11_uc010auf.1_Silent_p.K949K	136	GBM-14-0789-TP	p.K1213K	C	GCTGTTTTAACTTGTCACGTT	NM_004239	NP_004230	92470681	Q15643	TRIPB_HUMAN	0		COAD - Colon adenocarcinoma(157;0.223)	11	4427	-	T	T			Silent	1213			Potential.			
TRIP12	9320	broad.mit.edu	GRCh37	2	230724206	230724206	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2558-01	TCGA-06-2558-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283943.5:c.183G>A	p.Gly61=	p.G61=	ENST00000283943	NM_004238.1	61	ggG/ggA	0			1			T	G	uc002vpw.1	protein_coding	YES	CCDS33391.1			183/5979									ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9	c.(181-183)GGG>GGA			hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF73	thyroid hormone receptor interactor 12				ENSP00000283943		Mar-41									COSM2152598,COSM3407642	Mar-41	.		ENST00000283943	Transcript			protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	ENSG00000153827	g.chr2:230724206C>T	12306			LOW								--	--	1																																		TRIP12_uc002vpx.1_Silent_p.G103G|TRIP12_uc002vpy.1_Intron|TRIP12_uc010zlz.1_RNA|TRIP12_uc010fxh.1_Silent_p.G61G	1,1	1			p.G61G	NM_004238	NP_004229			1,1	TRIPC_HUMAN	TRIP12	HGNC	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	Q57Z94_HUMAN,F8W9P3_HUMAN,C9JSX9_HUMAN,C9JLJ5_HUMAN		3	292	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	UPI000013739D	61					SNV	TRIP12,synonymous_variant,p.=,ENST00000283943,NM_004238.1;TRIP12,synonymous_variant,p.=,ENST00000389044,NM_001284214.1;TRIP12,synonymous_variant,p.=,ENST00000543084,;TRIP12,synonymous_variant,p.=,ENST00000409677,;TRIP12,synonymous_variant,p.=,ENST00000430954,;TRIP12,synonymous_variant,p.=,ENST00000435716,;TRIP12,synonymous_variant,p.=,ENST00000428959,;TRIP12,synonymous_variant,p.=,ENST00000343290,;TRIP12,intron_variant,,ENST00000389045,NM_001284216.1;TRIP12,upstream_gene_variant,,ENST00000453485,;TRIP12,non_coding_transcript_exon_variant,,ENST00000479037,;	uc002vpw.1	c.183G>A	362/9874	1	1			c.183G>A						2	SNP	c.(181-183)GGG>GGA	4	4			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9	Broad	thyroid hormone receptor interactor 12			230724206		0.453	ENSG00000153827	16306	g.chr2:230724206C>T	protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity							462.404157	KEEP	82	108	-1	141	187	82	108	-1	469.754438	141	187	0.363229	1	0	0	0	0	0	0	1	0	--	--		0	T			TRIP12_uc002vpx.1_Silent_p.G103G|TRIP12_uc002vpy.1_Intron|TRIP12_uc010zlz.1_RNA|TRIP12_uc010fxh.1_Silent_p.G61G	82	GBM-06-2558-TP	p.G61G	C	TAGGCACCTGCCCCGTTTTTT	NM_004238	NP_004229	230724206	Q14669	TRIPC_HUMAN	0		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	3	292	-	T	T		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	Silent	61						
TRIP12	9320	broad.mit.edu	GRCh37	2	230663714	230663714	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-2563-01	TCGA-06-2563-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283943.5:c.3134T>G	p.Leu1045Trp	p.L1045W	ENST00000283943	NM_004238.1	1045	tTg/tGg	0			1			C	L/W	uc002vpw.1	protein_coding	YES	CCDS33391.1			3134/5979									ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9	c.(3133-3135)TTG>TGG			hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF73	thyroid hormone receptor interactor 12				ENSP00000283943		22/41									COSM2152864	22/41	.		ENST00000283943	Transcript			protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	ENSG00000153827	g.chr2:230663714A>C	12306			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=TRIPC_HUMAN&rb=945&re=1627&var=L1045W	NA	getma.org/?cm=var&var=hg19,2,230663714,A,C&fts=all	L1045W	--	--	1																																		TRIP12_uc002vpx.1_Missense_Mutation_p.L1093W|TRIP12_uc002vpy.1_Missense_Mutation_p.L775W|TRIP12_uc010zlz.1_RNA	1	1		probably_damaging(0.962)	p.L1045W	NM_004238	NP_004229		deleterious(0)	1	TRIPC_HUMAN	TRIP12	HGNC	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	Q57Z94_HUMAN,F8W9P3_HUMAN,C9JSX9_HUMAN,C9JLJ5_HUMAN		22	3243	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	UPI000013739D	1045					SNV	TRIP12,missense_variant,p.Leu1045Trp,ENST00000283943,NM_004238.1;TRIP12,missense_variant,p.Leu1093Trp,ENST00000389044,NM_001284214.1;TRIP12,missense_variant,p.Leu775Trp,ENST00000389045,NM_001284216.1;TRIP12,3_prime_UTR_variant,,ENST00000543084,;TRIP12,downstream_gene_variant,,ENST00000487178,;TRIP12,upstream_gene_variant,,ENST00000461189,;	uc002vpw.1	c.3134T>G	3313/9874	4	4			c.3134T>G						2	SNP	c.(3133-3135)TTG>TGG	34	34			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9	Broad	thyroid hormone receptor interactor 12			230663714		0.448	ENSG00000153827	16306	g.chr2:230663714A>C	protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity							90.878932	KEEP	31	36	-1	79	65	31	36	-1	103.288199	79	65	0.208861	1	0	0	0	0	1	0	0	0	--	--		0	C			TRIP12_uc002vpx.1_Missense_Mutation_p.L1093W|TRIP12_uc002vpy.1_Missense_Mutation_p.L775W|TRIP12_uc010zlz.1_RNA	86	GBM-06-2563-TP	p.L1045W	A	TTTTGGATTCAAGCTTGCCAG	NM_004238	NP_004229	230663714	Q14669	TRIPC_HUMAN	0		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	22	3243	-	C	C		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	Missense_Mutation	1045						
TRIP12	9320	broad.mit.edu	GRCh37	2	230663734	230663734	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-2563-01	TCGA-06-2563-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283943.5:c.3114A>G	p.Lys1038=	p.K1038=	ENST00000283943	NM_004238.1	1038	aaA/aaG	0			1			C	K	uc002vpw.1	protein_coding	YES	CCDS33391.1			3114/5979									ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9	c.(3112-3114)AAA>AAG			hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF73,Low_complexity_(Seg):seg	thyroid hormone receptor interactor 12				ENSP00000283943		22/41									COSM2152861	22/41	.		ENST00000283943	Transcript			protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	ENSG00000153827	g.chr2:230663734T>C	12306			LOW								--	--	1																																		TRIP12_uc002vpx.1_Silent_p.K1086K|TRIP12_uc002vpy.1_Silent_p.K768K|TRIP12_uc010zlz.1_RNA	1	1			p.K1038K	NM_004238	NP_004229			1	TRIPC_HUMAN	TRIP12	HGNC	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	Q57Z94_HUMAN,F8W9P3_HUMAN,C9JSX9_HUMAN,C9JLJ5_HUMAN		22	3223	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	UPI000013739D	1038					SNV	TRIP12,synonymous_variant,p.=,ENST00000283943,NM_004238.1;TRIP12,synonymous_variant,p.=,ENST00000389044,NM_001284214.1;TRIP12,synonymous_variant,p.=,ENST00000389045,NM_001284216.1;TRIP12,3_prime_UTR_variant,,ENST00000543084,;TRIP12,downstream_gene_variant,,ENST00000487178,;TRIP12,upstream_gene_variant,,ENST00000461189,;	uc002vpw.1	c.3114A>G	3293/9874	3	3			c.3114A>G						2	SNP	c.(3112-3114)AAA>AAG	64	64			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9	Broad	thyroid hormone receptor interactor 12			230663734		0.398	ENSG00000153827	16306	g.chr2:230663734T>C	protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity							100.263715	KEEP	35	37	-1	71	69	35	37	-1	112.67952	71	69	0.21118	1	0	0	0	0	0	0	1	0	--	--		0	C			TRIP12_uc002vpx.1_Silent_p.K1086K|TRIP12_uc002vpy.1_Silent_p.K768K|TRIP12_uc010zlz.1_RNA	86	GBM-06-2563-TP	p.K1038K	T	GGAAAGAAGATTTAGGTGACT	NM_004238	NP_004229	230663734	Q14669	TRIPC_HUMAN	0		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	22	3223	-	C	C		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	Silent	1038						
TRIP12	9320	broad.mit.edu	GRCh37	2	230663763	230663763	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-2563-01	TCGA-06-2563-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283943.5:c.3085A>G	p.Lys1029Glu	p.K1029E	ENST00000283943	NM_004238.1	1029	Aaa/Gaa	0			1			C	K/E	uc002vpw.1	protein_coding	YES	CCDS33391.1			3085/5979									ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9	c.(3085-3087)AAA>GAA			hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF73,Low_complexity_(Seg):seg	thyroid hormone receptor interactor 12				ENSP00000283943		22/41									COSM2152860	22/41	.		ENST00000283943	Transcript			protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	ENSG00000153827	g.chr2:230663763T>C	12306			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=TRIPC_HUMAN&rb=945&re=1627&var=K1029E	NA	getma.org/?cm=var&var=hg19,2,230663763,T,C&fts=all	K1029E	--	--	1																																		TRIP12_uc002vpx.1_Missense_Mutation_p.K1077E|TRIP12_uc002vpy.1_Missense_Mutation_p.K759E|TRIP12_uc010zlz.1_RNA	1	1		benign(0.444)	p.K1029E	NM_004238	NP_004229		tolerated(0.22)	1	TRIPC_HUMAN	TRIP12	HGNC	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	Q57Z94_HUMAN,F8W9P3_HUMAN,C9JSX9_HUMAN,C9JLJ5_HUMAN		22	3194	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	UPI000013739D	1029					SNV	TRIP12,missense_variant,p.Lys1029Glu,ENST00000283943,NM_004238.1;TRIP12,missense_variant,p.Lys1077Glu,ENST00000389044,NM_001284214.1;TRIP12,missense_variant,p.Lys759Glu,ENST00000389045,NM_001284216.1;TRIP12,splice_region_variant,,ENST00000543084,;TRIP12,downstream_gene_variant,,ENST00000487178,;TRIP12,upstream_gene_variant,,ENST00000461189,;	uc002vpw.1	c.3085A>G	3264/9874	3	3			c.3085A>G						2	SNP	c.(3085-3087)AAA>GAA	64	64			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9	Broad	thyroid hormone receptor interactor 12			230663763		0.343	ENSG00000153827	16306	g.chr2:230663763T>C	protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity							92.832616	KEEP	31	32	-1	43	60	31	32	-1	100.669511	43	60	0.235772	1	0	0	0	0	1	0	0	0	--	--		0	C			TRIP12_uc002vpx.1_Missense_Mutation_p.K1077E|TRIP12_uc002vpy.1_Missense_Mutation_p.K759E|TRIP12_uc010zlz.1_RNA	86	GBM-06-2563-TP	p.K1029E	T	GTGGGGCTTTTAGCTATGAAA	NM_004238	NP_004229	230663763	Q14669	TRIPC_HUMAN	0		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	22	3194	-	C	C		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	Missense_Mutation	1029						
TRIP12	9320		GRCh37	2	230683176	230683176	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000283943.5:c.1359A>G	p.Gln453=	p.Q453=	ENST00000283943	NM_004238.1	453	caA/caG	0																																																																																																																																																																																																																																												
TRIP6	7205	broad.mit.edu	GRCh37	7	100466151	100466151	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0882-01	TCGA-06-0882-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000200457.4:c.398C>T	p.Thr133Met	p.T133M	ENST00000200457	NM_003302.2	133	aCg/aTg	0		T:0	1	T:0		T	T/M	uc003uww.2	protein_coding	YES	CCDS5708.1			398/1431									central_nervous_system(2)	2	c.(397-399)ACG>ATG			hmmpanther:PTHR24212,hmmpanther:PTHR24212:SF7	thyroid receptor-interacting protein 6		T:0		ENSP00000200457	T:0	9-Apr	8.27E-05		8.73E-05			3.17E-05		0.00043	rs541670413,COSM3411388	9-Apr	common_variant		ENST00000200457	Transcript		T:0.0006	focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding	ENSG00000087077	g.chr7:100466151C>T	12311			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TRIP6_HUMAN&rb=1&re=200&var=T133M	NA	getma.org/?cm=var&var=hg19,7,100466151,C,T&fts=all	T133M	--	--	1																																		TRIP6_uc010lhk.1_RNA	0,1	1		benign(0.003)	p.T133M	NM_003302	NP_003293	T:0.0031	tolerated(0.15)	0,1	TRIP6_HUMAN	TRIP6	HGNC	Q15654	TRIP6_HUMAN			Q71V88_HUMAN		4	568	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		UPI00000012CD	133					SNV	TRIP6,missense_variant,p.Thr133Met,ENST00000200457,NM_003302.2;SLC12A9,downstream_gene_variant,,ENST00000354161,NM_020246.3;SLC12A9,downstream_gene_variant,,ENST00000540482,NM_001267812.1;SLC12A9,downstream_gene_variant,,ENST00000428758,;SLC12A9,downstream_gene_variant,,ENST00000415287,NM_001267814.1;SLC12A9,downstream_gene_variant,,ENST00000275729,;TRIP6,upstream_gene_variant,,ENST00000429658,;SLC12A9,downstream_gene_variant,,ENST00000482184,;TRIP6,3_prime_UTR_variant,,ENST00000417475,;TRIP6,3_prime_UTR_variant,,ENST00000437505,;TRIP6,non_coding_transcript_exon_variant,,ENST00000476870,;TRIP6,non_coding_transcript_exon_variant,,ENST00000463125,;SLC12A9,downstream_gene_variant,,ENST00000487651,;SLC12A9,downstream_gene_variant,,ENST00000467972,;SLC12A9,downstream_gene_variant,,ENST00000475687,;TRIP6,upstream_gene_variant,,ENST00000488670,;TRIP6,downstream_gene_variant,,ENST00000496260,;	uc003uww.2	c.398C>T	758/1942	2	2			c.398C>T						7	SNP	c.(397-399)ACG>ATG	46	46			central_nervous_system(2)	2	Broad	thyroid receptor-interacting protein 6			100466151		0.637	ENSG00000087077	16309	g.chr7:100466151C>T	focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding							25.8461	KEEP	17	13	-1	78	78	17	13	-1	41.26224	78	78	0.147287	1	0	0	0	0	1	0	0	0	--	--		0	T			TRIP6_uc010lhk.1_RNA	77	GBM-06-0882-TP	p.T133M	C	GCCTACCGCACGGGCTCCCTG	NM_003302	NP_003293	100466151	Q15654	TRIP6_HUMAN	0			4	568	+	T	T	Lung NSC(181;0.041)|all_lung(186;0.0581)		Missense_Mutation	133						
TRMT1	55621	broad.mit.edu	GRCh37	19	13216154	13216154	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000592062.1:c.1760G>A	p.Arg587Gln	p.R587Q	ENST00000592062		587	cGg/cAg	0			1			T	R/Q	uc002mwj.2	protein_coding		CCDS12293.1			1760/1980									ovary(1)|pancreas(1)	2	c.(1759-1761)CGG>CAG				tRNA methyltransferase 1 isoform 1				ENSP00000350352		16/17	1.65E-05		8.64E-05			1.51E-05			rs748672881,COSM3403806	16/17	.		ENST00000357720	Transcript					RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	ENSG00000104907	g.chr19:13216154C>T	25980			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=TRM1_HUMAN&rb=501&re=600&var=R587Q	NA	getma.org/?cm=var&var=hg19,19,13216154,C,T&fts=all	R587Q	--	--	1																																OREG0025289	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	LYL1_uc002mwi.2_5'Flank|TRMT1_uc010xmy.1_Missense_Mutation_p.R191Q|TRMT1_uc002mwk.2_Missense_Mutation_p.R558Q|TRMT1_uc002mwl.3_Missense_Mutation_p.R587Q|TRMT1_uc010xmz.1_3'UTR	0,1			benign(0.109)	p.R587Q	NM_017722	NP_060192		deleterious(0.04)	0,1	TRM1_HUMAN	TRMT1	HGNC	Q9NXH9	TRM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	K7EQY6_HUMAN,K7EJX9_HUMAN,B4E3A3_HUMAN,B4DHS5_HUMAN		15	2010	-			UPI0000000A02	587					SNV	TRMT1,missense_variant,p.Arg587Gln,ENST00000592062,;TRMT1,missense_variant,p.Arg587Gln,ENST00000437766,NM_017722.3;TRMT1,missense_variant,p.Arg558Gln,ENST00000221504,NM_001142554.1;TRMT1,missense_variant,p.Arg587Gln,ENST00000357720,NM_001136035.2;LYL1,upstream_gene_variant,,ENST00000264824,NM_005583.4;TRMT1,downstream_gene_variant,,ENST00000592814,;LYL1,upstream_gene_variant,,ENST00000590974,;TRMT1,downstream_gene_variant,,ENST00000587487,;TRMT1,non_coding_transcript_exon_variant,,ENST00000588511,;TRMT1,non_coding_transcript_exon_variant,,ENST00000593157,;LYL1,upstream_gene_variant,,ENST00000590120,;TRMT1,downstream_gene_variant,,ENST00000587633,;TRMT1,downstream_gene_variant,,ENST00000585435,;TRMT1,downstream_gene_variant,,ENST00000586830,;	uc002mwj.2	c.1760G>A	1889/2142	2	2			c.1760G>A						19	SNP	c.(1759-1761)CGG>CAG	40	40			ovary(1)|pancreas(1)	2	Broad	tRNA methyltransferase 1 isoform 1			13216154		0.622	ENSG00000104907	16311	g.chr19:13216154C>T			RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding							16.43936	KEEP	10	2	-1	41	52	10	2	-1	30.108301	41	52	0.122449	1	0	0	0	0	1	0	0	0	--	--		0	T	OREG0025289	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	LYL1_uc002mwi.2_5'Flank|TRMT1_uc010xmy.1_Missense_Mutation_p.R191Q|TRMT1_uc002mwk.2_Missense_Mutation_p.R558Q|TRMT1_uc002mwl.3_Missense_Mutation_p.R587Q|TRMT1_uc010xmz.1_3'UTR	102	GBM-06-5858-TP	p.R587Q	C	CGGCTCCTTCCGCTTGTTCTG	NM_017722	NP_060192	13216154	Q9NXH9	TRM1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	15	2010	-	T	T			Missense_Mutation	587						
TRMT13	54482	broad.mit.edu	GRCh37	1	100602642	100602643	+	splice_donor_variant	Splice_Site	INS	-	-	T			TCGA-06-6388-01	TCGA-06-6388-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370141.2:c.261+2dup		p.X87_splice	ENST00000370141	NM_019083.2	87		0			1			T		uc001dsv.2	protein_coding	YES	CCDS765.1			261/1446									ovary(1)	1	c.e3+1				coiled-coil domain containing 76				ENSP00000359160													.		ENST00000370141	Transcript			tRNA processing		metal ion binding|methyltransferase activity	ENSG00000122435	g.chr1:100602642_100602643insT	25502	1		HIGH	10-Mar							--	--	1																																		CCDC76_uc010ouf.1_Splice_Site|CCDC76_uc009wea.2_Splice_Site_p.P87_splice		1			p.P87_splice	NM_019083	NP_061956				TRM13_HUMAN	TRMT13	HGNC	Q9NUP7	TRM13_HUMAN		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)			3	280	+		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	UPI000013CAE6						insertion	TRMT13,splice_donor_variant,,ENST00000370141,NM_019083.2;TRMT13,splice_donor_variant,,ENST00000370139,;TRMT13,splice_donor_variant,,ENST00000370143,;SASS6,upstream_gene_variant,,ENST00000287482,NM_194292.1;SASS6,upstream_gene_variant,,ENST00000535161,;SASS6,upstream_gene_variant,,ENST00000462159,;TRMT13,splice_donor_variant,,ENST00000482437,;	uc001dsv.2	c.261_splice	-/3129	5	5			c.261_splice						1	INS	c.e3+1	40	40			ovary(1)	1	Broad	coiled-coil domain containing 76			100602643		0.238	ENSG00000122435	2799	g.chr1:100602642_100602643insT	tRNA processing		metal ion binding|methyltransferase activity																				0.42	1	0	0	1	1	0	0	0	1	--	--		0	T			CCDC76_uc010ouf.1_Splice_Site|CCDC76_uc009wea.2_Splice_Site_p.P87_splice	104	GBM-06-6388-TP	p.P87_splice	-	ACCAAAACCTGTAAGTGTTTGA	NM_019083	NP_061956	100602642	Q9NUP7	TRM13_HUMAN	0		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)	3	280	+	T	T		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	Splice_Site							
TRMT6	0	broad.mit.edu	GRCh37	20	5925484	5925485	+	frameshift_variant	Frame_Shift_Del	DEL	TA	TA	-			TCGA-12-0692-01	TCGA-12-0692-01	TA	TA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000203001.2:c.332_333delTA	p.Ile111LysfsTer9	p.I111Kfs*9	ENST00000203001	NM_001281467.1	111	aTA/a	0			1			-	I/X	uc002wmh.1	protein_coding	YES	CCDS13093.1			332-333/1494									pancreas(1)	1	c.(331-333)ATAfs			hmmpanther:PTHR12945,Pfam_domain:PF04189,PIRSF_domain:PIRSF038170	tRNA methyltransferase 6				ENSP00000203001		11-Mar									COSM2154277	11-Mar	.		ENST00000203001	Transcript			regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity	ENSG00000089195	g.chr20:5925484_5925485delTA	20900			HIGH								--	--	1																																		TRMT6_uc010zra.1_Intron|TRMT6_uc010gbn.1_Intron|TRMT6_uc010gbo.1_RNA	1	1			p.I111fs	NM_015939	NP_057023			1	TRM6_HUMAN	TRMT6	HGNC	Q9UJA5	TRM6_HUMAN			B4DUV6_HUMAN		3	454_455	-			UPI000006D9E4	111					deletion	TRMT6,frameshift_variant,p.Ile111LysfsTer9,ENST00000203001,NM_001281467.1,NM_015939.4;TRMT6,intron_variant,,ENST00000453074,;TRMT6,non_coding_transcript_exon_variant,,ENST00000473131,;TRMT6,non_coding_transcript_exon_variant,,ENST00000466974,;TRMT6,intron_variant,,ENST00000493972,;	uc002wmh.1	c.332_333delTA	463-464/2327	5	5			c.332_333delTA						20	DEL	c.(331-333)ATAfs	47	47			pancreas(1)	1	Broad	tRNA methyltransferase 6			5925485		0.342	ENSG00000089195	16318	g.chr20:5925484_5925485delTA	regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity																				0.3	1	1	0	1	0	0	0	0	0	--	--		0	-			TRMT6_uc010zra.1_Intron|TRMT6_uc010gbn.1_Intron|TRMT6_uc010gbo.1_RNA	122	GBM-12-0692-TP	p.I111fs	TA	TCAAAGCTTTTATGTCATCTTG	NM_015939	NP_057023	5925484	Q9UJA5	TRM6_HUMAN	0			3	454_455	-	-	-			Frame_Shift_Del	111						
TRPA1	8989	broad.mit.edu	GRCh37	8	72948651	72948651	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0124-01	TCGA-06-0124-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262209.4:c.2427G>T	p.Trp809Cys	p.W809C	ENST00000262209	NM_007332.2	809	tgG/tgT	0			1			A	W/C	uc003xza.2	protein_coding	YES	CCDS34908.1			2427/3360									ovary(4)|lung(1)|kidney(1)	6	c.(2425-2427)TGG>TGT			Pfam_domain:PF00520,hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF5,Transmembrane_helices:TMhelix	ankyrin-like protein 1	Menthol(DB00825)			ENSP00000262209		21/27									COSM2149327	21/27	.		ENST00000262209	Transcript	1			integral to plasma membrane		ENSG00000104321	g.chr8:72948651C>A	497			MODERATE		2.415	medium	getma.org/?cm=msa&ty=f&p=TRPA1_HUMAN&rb=766&re=960&var=W809C	NA	getma.org/?cm=var&var=hg19,8,72948651,C,A&fts=all	W809C	--	--	1																																		uc011lff.1_Intron|uc003xyy.2_Intron	1	1		probably_damaging(1)	p.W809C	NM_007332	NP_015628		deleterious(0)	1	TRPA1_HUMAN	TRPA1	HGNC	O75762	TRPA1_HUMAN	Epithelial(68;0.223)				21	2602	-			UPI000021081A	809			Helical; Name=3; (Potential).		SNV	TRPA1,missense_variant,p.Trp809Cys,ENST00000262209,NM_007332.2;TRPA1,missense_variant,p.Trp661Cys,ENST00000523582,;RP11-383H13.1,intron_variant,,ENST00000537896,;RP11-383H13.1,intron_variant,,ENST00000524152,;TRPA1,non_coding_transcript_exon_variant,,ENST00000519720,;RP11-383H13.1,intron_variant,,ENST00000457356,;RP11-383H13.1,intron_variant,,ENST00000518916,;RP11-383H13.1,intron_variant,,ENST00000512290,;RP11-383H13.1,intron_variant,,ENST00000519751,;RP11-383H13.1,intron_variant,,ENST00000522519,;RP11-383H13.1,intron_variant,,ENST00000519068,;TRPA1,downstream_gene_variant,,ENST00000522271,;	uc003xza.2	c.2427G>T	2635/5223	1	1			c.2427G>T						8	SNP	c.(2425-2427)TGG>TGT	58	58			ovary(4)|lung(1)|kidney(1)	6	Broad	ankyrin-like protein 1		Menthol(DB00825)	72948651		0.363	ENSG00000104321	16327	g.chr8:72948651C>A		integral to plasma membrane								58.299306	KEEP	16	8	0.333333333	35	23	16	8	0.333333333	61.085681	35	23	0.298701	1	0	0	0	0	1	0	0	0	--	--		0	A			uc011lff.1_Intron|uc003xyy.2_Intron	11	GBM-06-0124-TP	p.W809C	C	TGTAGATAATCCATTCAAGAA	NM_007332	NP_015628	72948651	O75762	TRPA1_HUMAN	0	Epithelial(68;0.223)		21	2602	-	A	A			Missense_Mutation	809			Helical; Name=3; (Potential).			
TRPA1	8989	broad.mit.edu	GRCh37	8	72938268	72938268	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0145-01	TCGA-06-0145-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262209.4:c.2978G>T	p.Trp993Leu	p.W993L	ENST00000262209	NM_007332.2	993	tGg/tTg	0			1			A	W/L	uc003xza.2	protein_coding	YES	CCDS34908.1			2978/3360									ovary(4)|lung(1)|kidney(1)	6	c.(2977-2979)TGG>TTG			hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF5	ankyrin-like protein 1	Menthol(DB00825)			ENSP00000262209		25/27									COSM2149785	25/27	.		ENST00000262209	Transcript	1			integral to plasma membrane		ENSG00000104321	g.chr8:72938268C>A	497			MODERATE		2.485	medium	getma.org/?cm=msa&ty=f&p=TRPA1_HUMAN&rb=961&re=1119&var=W993L	NA	getma.org/?cm=var&var=hg19,8,72938268,C,A&fts=all	W993L	--	--	1																																		uc011lff.1_Intron|uc003xyy.2_Intron	1	1		benign(0.33)	p.W993L	NM_007332	NP_015628		deleterious(0.01)	1	TRPA1_HUMAN	TRPA1	HGNC	O75762	TRPA1_HUMAN	Epithelial(68;0.223)				25	3153	-			UPI000021081A	993			Cytoplasmic (Potential).		SNV	TRPA1,missense_variant,p.Trp993Leu,ENST00000262209,NM_007332.2;TRPA1,missense_variant,p.Trp845Leu,ENST00000523582,;RP11-383H13.1,intron_variant,,ENST00000537896,;RP11-383H13.1,intron_variant,,ENST00000524152,;RP11-383H13.1,intron_variant,,ENST00000457356,;RP11-383H13.1,intron_variant,,ENST00000518916,;RP11-383H13.1,intron_variant,,ENST00000519751,;RP11-383H13.1,upstream_gene_variant,,ENST00000512290,;TRPA1,upstream_gene_variant,,ENST00000520596,;RP11-383H13.1,intron_variant,,ENST00000522519,;RP11-383H13.1,intron_variant,,ENST00000519068,;	uc003xza.2	c.2978G>T	3186/5223	2	2			c.2978G>T						8	SNP	c.(2977-2979)TGG>TTG	41	41			ovary(4)|lung(1)|kidney(1)	6	Broad	ankyrin-like protein 1		Menthol(DB00825)	72938268		0.363	ENSG00000104321	16327	g.chr8:72938268C>A		integral to plasma membrane								97.350718	KEEP	24	17	0.414634146	39	26	24	17	0.414634146	98.371634	39	26	0.383721	1	0	0	0	0	1	0	0	0	--	--		0	A			uc011lff.1_Intron|uc003xyy.2_Intron	23	GBM-06-0145-TP	p.W993L	C	GCGTAGAAACCAAAGTGGCAG	NM_007332	NP_015628	72938268	O75762	TRPA1_HUMAN	0	Epithelial(68;0.223)		25	3153	-	A	A			Missense_Mutation	993			Cytoplasmic (Potential).			
TRPA1	8989	broad.mit.edu	GRCh37	8	72948640	72948640	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01	TCGA-06-0158-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262209.4:c.2438C>T	p.Thr813Met	p.T813M	ENST00000262209	NM_007332.2	813	aCg/aTg	0		A:0	1	A:0		A	T/M	uc003xza.2	protein_coding	YES	CCDS34908.1			2438/3360									ovary(4)|lung(1)|kidney(1)	6	c.(2437-2439)ACG>ATG			Pfam_domain:PF00520,hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF5,Transmembrane_helices:TMhelix	ankyrin-like protein 1	Menthol(DB00825)	A:0		ENSP00000262209	A:0.001	21/27	4.12E-05					6.07E-05		6.10E-05	rs538354055,COSM2150142	21/27	.		ENST00000262209	Transcript	1	A:0.0002		integral to plasma membrane		ENSG00000104321	g.chr8:72948640G>A	497			MODERATE		2.24	medium	getma.org/?cm=msa&ty=f&p=TRPA1_HUMAN&rb=766&re=960&var=T813M	NA	getma.org/?cm=var&var=hg19,8,72948640,G,A&fts=all	T813M	--	--	1																																		uc011lff.1_Intron|uc003xyy.2_Intron	0,1	1		probably_damaging(1)	p.T813M	NM_007332	NP_015628	A:0	deleterious(0.03)	0,1	TRPA1_HUMAN	TRPA1	HGNC	O75762	TRPA1_HUMAN	Epithelial(68;0.223)				21	2613	-			UPI000021081A	813			Helical; Name=3; (Potential).		SNV	TRPA1,missense_variant,p.Thr813Met,ENST00000262209,NM_007332.2;TRPA1,missense_variant,p.Thr665Met,ENST00000523582,;RP11-383H13.1,intron_variant,,ENST00000537896,;RP11-383H13.1,intron_variant,,ENST00000524152,;TRPA1,non_coding_transcript_exon_variant,,ENST00000519720,;RP11-383H13.1,intron_variant,,ENST00000457356,;RP11-383H13.1,intron_variant,,ENST00000518916,;RP11-383H13.1,intron_variant,,ENST00000512290,;RP11-383H13.1,intron_variant,,ENST00000519751,;RP11-383H13.1,intron_variant,,ENST00000522519,;RP11-383H13.1,intron_variant,,ENST00000519068,;TRPA1,downstream_gene_variant,,ENST00000522271,;	uc003xza.2	c.2438C>T	2646/5223	2	2			c.2438C>T						8	SNP	c.(2437-2439)ACG>ATG	47	47			ovary(4)|lung(1)|kidney(1)	6	Broad	ankyrin-like protein 1		Menthol(DB00825)	72948640		0.363	ENSG00000104321	16327	g.chr8:72948640G>A		integral to plasma membrane								113.459911	KEEP	20	21	-1	37	50	20	21	-1	116.288459	37	50	0.336134	1	0	0	0	0	1	0	0	0	--	--		0	A			uc011lff.1_Intron|uc003xyy.2_Intron	29	GBM-06-0158-TP	p.T813M	G	GATGCCCGTCGTGTAGATAAT	NM_007332	NP_015628	72948640	O75762	TRPA1_HUMAN	0	Epithelial(68;0.223)		21	2613	-	A	A			Missense_Mutation	813			Helical; Name=3; (Potential).			
TRPA1	0	broad.mit.edu	GRCh37	8	72973980	72973980	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01	TCGA-16-0846-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262209.4:c.824C>T	p.Ala275Val	p.A275V	ENST00000262209	NM_007332.2	275	gCc/gTc	0			1			A	A/V	uc003xza.2	protein_coding	YES	CCDS34908.1			824/3360									ovary(4)|lung(1)|kidney(1)	6	c.(823-825)GCC>GTC			Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50297,hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF5,SMART_domains:SM00248,Superfamily_domains:SSF48403	ankyrin-like protein 1	Menthol(DB00825)			ENSP00000262209		27-Jul									COSM3413108	27-Jul	.		ENST00000262209	Transcript	1			integral to plasma membrane		ENSG00000104321	g.chr8:72973980G>A	497			MODERATE		2.915	medium	getma.org/?cm=msa&ty=f&p=TRPA1_HUMAN&rb=272&re=304&var=A275V	NA	getma.org/?cm=var&var=hg19,8,72973980,G,A&fts=all	A275V	--	--	1																																			1	1		possibly_damaging(0.903)	p.A275V	NM_007332	NP_015628		deleterious(0.05)	1	TRPA1_HUMAN	TRPA1	HGNC	O75762	TRPA1_HUMAN	Epithelial(68;0.223)				7	999	-			UPI000021081A	275			Cytoplasmic (Potential).|ANK 7.		SNV	TRPA1,missense_variant,p.Ala275Val,ENST00000262209,NM_007332.2;TRPA1,missense_variant,p.Ala127Val,ENST00000523582,;RP11-383H13.1,intron_variant,,ENST00000518916,;RP11-383H13.1,intron_variant,,ENST00000519068,;	uc003xza.2	c.824C>T	1032/5223	2	2			c.824C>T						8	SNP	c.(823-825)GCC>GTC	33	33			ovary(4)|lung(1)|kidney(1)	6	Broad	ankyrin-like protein 1		Menthol(DB00825)	72973980		0.393	ENSG00000104321	16327	g.chr8:72973980G>A		integral to plasma membrane								45.384752	KEEP	11	9	-1	34	25	11	9	-1	49.705351	34	25	0.25	1	0	0	0	0	1	0	0	0	--	--		0	A				155	GBM-16-0846-TP	p.A275V	G	AAAATGAATGGCTGTGCACCT	NM_007332	NP_015628	72973980	O75762	TRPA1_HUMAN	0	Epithelial(68;0.223)		7	999	-	A	A			Missense_Mutation	275			Cytoplasmic (Potential).|ANK 7.			
TRPA1	0	broad.mit.edu	GRCh37	8	72948586	72948586	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-32-4211-01	TCGA-32-4211-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262209.4:c.2492A>T	p.Gln831Leu	p.Q831L	ENST00000262209	NM_007332.2	831	cAg/cTg	0			1			A	Q/L	uc003xza.2	protein_coding	YES	CCDS34908.1			2492/3360									ovary(4)|lung(1)|kidney(1)	6	c.(2491-2493)CAG>CTG			Pfam_domain:PF00520,hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF5,Transmembrane_helices:TMhelix	ankyrin-like protein 1	Menthol(DB00825)			ENSP00000262209		21/27									COSM2157383	21/27	.		ENST00000262209	Transcript	1			integral to plasma membrane		ENSG00000104321	g.chr8:72948586T>A	497			MODERATE		2.6	medium	getma.org/?cm=msa&ty=f&p=TRPA1_HUMAN&rb=766&re=960&var=Q831L	NA	getma.org/?cm=var&var=hg19,8,72948586,T,A&fts=all	Q831L	--	--	1																																		uc011lff.1_Intron|uc003xyy.2_Intron	1	1		probably_damaging(0.999)	p.Q831L	NM_007332	NP_015628		deleterious(0)	1	TRPA1_HUMAN	TRPA1	HGNC	O75762	TRPA1_HUMAN	Epithelial(68;0.223)				21	2667	-			UPI000021081A	831			Helical; Name=4; (Potential).		SNV	TRPA1,missense_variant,p.Gln831Leu,ENST00000262209,NM_007332.2;TRPA1,missense_variant,p.Gln683Leu,ENST00000523582,;RP11-383H13.1,intron_variant,,ENST00000537896,;RP11-383H13.1,intron_variant,,ENST00000524152,;TRPA1,non_coding_transcript_exon_variant,,ENST00000519720,;RP11-383H13.1,intron_variant,,ENST00000457356,;RP11-383H13.1,intron_variant,,ENST00000518916,;RP11-383H13.1,intron_variant,,ENST00000512290,;RP11-383H13.1,intron_variant,,ENST00000519751,;RP11-383H13.1,intron_variant,,ENST00000522519,;RP11-383H13.1,intron_variant,,ENST00000519068,;TRPA1,downstream_gene_variant,,ENST00000522271,;	uc003xza.2	c.2492A>T	2700/5223	1	1			c.2492A>T						8	SNP	c.(2491-2493)CAG>CTG	60	60			ovary(4)|lung(1)|kidney(1)	6	Broad	ankyrin-like protein 1		Menthol(DB00825)	72948586		0.353	ENSG00000104321	16327	g.chr8:72948586T>A		integral to plasma membrane								47.546656	KEEP	4	11	-1	7	12	4	11	-1	47.655432	7	12	0.4375	1	0	0	0	0	1	0	0	0	--	--		0	A			uc011lff.1_Intron|uc003xyy.2_Intron	246	GBM-32-4211-TP	p.Q831L	T	ACATTGCCACTGCAGATGAGC	NM_007332	NP_015628	72948586	O75762	TRPA1_HUMAN	0	Epithelial(68;0.223)		21	2667	-	A	A			Missense_Mutation	831			Helical; Name=4; (Potential).			
TRPC1	7220	broad.mit.edu	GRCh37	3	142524983	142524983	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0645-01	TCGA-06-0645-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000476941.1:c.2288A>G	p.Glu763Gly	p.E763G	ENST00000476941	NM_001251845.1	763	gAa/gGa	0			1			G	E/G	uc003evc.2	protein_coding	YES	CCDS58856.1			2288/2382									ovary(2)	2	c.(2287-2289)GAA>GGA			hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF3,TIGRFAM_domain:TIGR00870	transient receptor potential cation channel,				ENSP00000419313		13/13									COSM3408299,COSM3408300	13/13	.		ENST00000476941	Transcript			axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	ENSG00000144935	g.chr3:142524983A>G	12333			MODERATE		2.72	medium	getma.org/?cm=msa&ty=f&p=TRPC1_HUMAN&rb=646&re=793&var=E763G	NA	getma.org/?cm=var&var=hg19,3,142524983,A,G&fts=all	E763G	--	--	1																																		TRPC1_uc003evb.2_Missense_Mutation_p.E729G	1,1	1		benign(0.166)	p.E763G	NM_003304	NP_003295		deleterious(0)	1,1	TRPC1_HUMAN	TRPC1	HGNC	P48995	TRPC1_HUMAN					13	2424	+			UPI00001374A4	763					SNV	TRPC1,missense_variant,p.Glu729Gly,ENST00000273482,NM_003304.4;TRPC1,missense_variant,p.Glu763Gly,ENST00000476941,NM_001251845.1;RNU7-47P,downstream_gene_variant,,ENST00000515978,;	uc003evc.2	c.2288A>G	2774/3061	3	3			c.2288A>G						3	SNP	c.(2287-2289)GAA>GGA	55	55			ovary(2)	2	Broad	transient receptor potential cation channel,			142524983		0.373	ENSG00000144935	16328	g.chr3:142524983A>G	axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity							-16.06208	KEEP	2	1	-1	51	55	2	1	-1	7.321673	51	55	0.030928	1	0	0	0	0	1	0	0	0	--	--		0	G			TRPC1_uc003evb.2_Missense_Mutation_p.E729G	59	GBM-06-0645-TP	p.E763G	A	AATCTAAACGAACTGCGCCAA	NM_003304	NP_003295	142524983	P48995	TRPC1_HUMAN	0			13	2424	+	G	G			Missense_Mutation	763						
TRPC3	7222	broad.mit.edu	GRCh37	4	122833104	122833104	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-5418-01	TCGA-06-5418-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379645.3:c.1486C>G	p.Pro496Ala	p.P496A	ENST00000379645	NM_001130698.1	496	Ccc/Gcc	0			1			C	P/A	uc003ieg.2	protein_coding	YES	CCDS47130.1			1486/2766									ovary(2)	2	c.(1486-1488)CCC>GCC			hmmpanther:PTHR10117:SF8,hmmpanther:PTHR10117,TIGRFAM_domain:TIGR00870	transient receptor potential cation channel,				ENSP00000368966		12-May									COSM2153345,COSM2153344	12-May	.		ENST00000379645	Transcript			axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	ENSG00000138741	g.chr4:122833104G>C	12335			MODERATE		1.285	low	getma.org/?cm=msa&ty=f&p=TRPC3_HUMAN&rb=245&re=426&var=P411A	NA	getma.org/?cm=var&var=hg19,4,122833104,G,C&fts=all	P411A	--	--	1																																		TRPC3_uc010inr.2_Missense_Mutation_p.P368A|TRPC3_uc003ief.2_Missense_Mutation_p.P423A|TRPC3_uc011cgl.1_Missense_Mutation_p.P160A	1,1	1		benign(0.019)	p.P496A	NM_001130698	NP_001124170		tolerated(0.1)	1,1	TRPC3_HUMAN	TRPC3	HGNC	Q13507	TRPC3_HUMAN			Q4W5P7_HUMAN,D6R902_HUMAN		5	1560	-			UPI00004C6F61	411			Cytoplasmic (Potential).		SNV	TRPC3,missense_variant,p.Pro423Ala,ENST00000264811,NM_003305.2;TRPC3,missense_variant,p.Pro496Ala,ENST00000379645,NM_001130698.1;TRPC3,missense_variant,p.Pro368Ala,ENST00000513531,;TRPC3,3_prime_UTR_variant,,ENST00000506449,;	uc003ieg.2	c.1486C>G	1560/3548	3	3			c.1486C>G						4	SNP	c.(1486-1488)CCC>GCC	16	16			ovary(2)	2	Broad	transient receptor potential cation channel,			122833104		0.423	ENSG00000138741	16329	g.chr4:122833104G>C	axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity							205.829612	KEEP	30	32	-1	68	51	30	32	-1	208.755836	68	51	0.357576	1	0	0	0	0	1	0	0	0	--	--		0	C			TRPC3_uc010inr.2_Missense_Mutation_p.P368A|TRPC3_uc003ief.2_Missense_Mutation_p.P423A|TRPC3_uc011cgl.1_Missense_Mutation_p.P160A	100	GBM-06-5418-TP	p.P496A	G	ATCTGTTTGGGATAGTCAGTA	NM_001130698	NP_001124170	122833104	Q13507	TRPC3_HUMAN	0			5	1560	-	C	C			Missense_Mutation	411			Cytoplasmic (Potential).			
TRPC4	7223	broad.mit.edu	GRCh37	13	38237609	38237609	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0168-01	TCGA-06-0168-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379681.3:c.1632G>A	p.Thr544=	p.T544=	ENST00000379681	NM_001135955.1	544	acG/acA	0		T:0	1	T:0		T	T	uc001uws.2	protein_coding		CCDS9365.1			1632/2934									ovary(3)|skin(2)|breast(1)	6	c.(1630-1632)ACG>ACA			hmmpanther:PTHR10117:SF25,hmmpanther:PTHR10117,TIGRFAM_domain:TIGR00870,Pfam_domain:PF00520	transient receptor potential cation channel,		T:0		ENSP00000369027	T:0	11-Jun	0.000214		8.66E-05			6.00E-05		0.00127	rs540496931,COSM2072926,COSM2072925	11-Jun	common_variant		ENST00000379705	Transcript		T:0.0002	axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	ENSG00000133107	g.chr13:38237609C>T	12336			LOW								--	--	1																																		TRPC4_uc010abv.2_Silent_p.T124T|TRPC4_uc001uwt.2_Silent_p.T544T|TRPC4_uc010tey.1_Silent_p.T544T|TRPC4_uc010abw.2_Silent_p.T371T|TRPC4_uc010abx.2_Silent_p.T544T|TRPC4_uc010aby.2_Silent_p.T544T	0,1,1				p.T544T	NM_016179	NP_057263	T:0.001		0,1,1	TRPC4_HUMAN	TRPC4	HGNC	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)			6	1867	-			UPI00001374B2	544			Extracellular (Potential).		SNV	TRPC4,synonymous_variant,p.=,ENST00000379705,;TRPC4,synonymous_variant,p.=,ENST00000379681,NM_001135955.1,NM_016179.2,NM_003306.1;TRPC4,synonymous_variant,p.=,ENST00000447043,;TRPC4,synonymous_variant,p.=,ENST00000358477,;TRPC4,synonymous_variant,p.=,ENST00000338947,NM_001135958.1;TRPC4,synonymous_variant,p.=,ENST00000355779,NM_001135957.1;TRPC4,synonymous_variant,p.=,ENST00000379673,NM_001135956.1;TRPC4,synonymous_variant,p.=,ENST00000379679,;TRPC4,intron_variant,,ENST00000426868,;TRPC4,non_coding_transcript_exon_variant,,ENST00000494529,;TRPC4,3_prime_UTR_variant,,ENST00000488717,;	uc001uws.2	c.1632G>A	2490/4059	2	2			c.1632G>A						13	SNP	c.(1630-1632)ACG>ACA	36	36			ovary(3)|skin(2)|breast(1)	6	Broad	transient receptor potential cation channel,			38237609		0.348	ENSG00000133107	16330	g.chr13:38237609C>T	axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity							127.194641	KEEP	23	22	-1	24	27	23	22	-1	127.258552	24	27	0.470588	1	0	0	0	0	0	0	1	0	--	--		0	T			TRPC4_uc010abv.2_Silent_p.T124T|TRPC4_uc001uwt.2_Silent_p.T544T|TRPC4_uc010tey.1_Silent_p.T544T|TRPC4_uc010abw.2_Silent_p.T371T|TRPC4_uc010abx.2_Silent_p.T544T|TRPC4_uc010aby.2_Silent_p.T544T	33	GBM-06-0168-TP	p.T544T	C	TTAACCCTTTCGTTTCTTCAT	NM_016179	NP_057263	38237609	Q9UBN4	TRPC4_HUMAN	0		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	6	1867	-	T	T			Silent	544			Extracellular (Potential).			
TRPC4	0	broad.mit.edu	GRCh37	13	38266163	38266163	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01	TCGA-28-5204-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379705.3:c.1207G>A	p.Glu403Lys	p.E403K	ENST00000379705		403	Gag/Aag	0		T:0.0008	1	T:0		T	E/K	uc001uws.2	protein_coding		CCDS9365.1			1207/2934									ovary(3)|skin(2)|breast(1)	6	c.(1207-1209)GAG>AAG			Transmembrane_helices:TMhelix,hmmpanther:PTHR10117:SF25,hmmpanther:PTHR10117,TIGRFAM_domain:TIGR00870	transient receptor potential cation channel,		T:0		ENSP00000369027	T:0	11-Apr	8.24E-06	9.61E-05							rs544186577,COSM947237,COSM947236	11-Apr	.		ENST00000379705	Transcript		T:0.0002	axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	ENSG00000133107	g.chr13:38266163C>T	12336			MODERATE		3.07	medium	getma.org/?cm=msa&ty=f&p=TRPC4_HUMAN&rb=239&re=403&var=E403K	NA	getma.org/?cm=var&var=hg19,13,38266163,C,T&fts=all	E403K	--	--	1																																		TRPC4_uc010abv.2_Intron|TRPC4_uc001uwt.2_Missense_Mutation_p.E403K|TRPC4_uc010tey.1_Missense_Mutation_p.E403K|TRPC4_uc010abw.2_Missense_Mutation_p.E230K|TRPC4_uc010abx.2_Missense_Mutation_p.E403K|TRPC4_uc010aby.2_Missense_Mutation_p.E403K	0,1,1			probably_damaging(0.994)	p.E403K	NM_016179	NP_057263	T:0	deleterious(0)	0,1,1	TRPC4_HUMAN	TRPC4	HGNC	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)			4	1442	-			UPI00001374B2	403			Cytoplasmic (Potential).		SNV	TRPC4,missense_variant,p.Glu403Lys,ENST00000379705,;TRPC4,missense_variant,p.Glu403Lys,ENST00000379681,NM_001135955.1,NM_016179.2,NM_003306.1;TRPC4,missense_variant,p.Glu403Lys,ENST00000447043,;TRPC4,missense_variant,p.Glu403Lys,ENST00000358477,;TRPC4,missense_variant,p.Glu230Lys,ENST00000338947,NM_001135958.1;TRPC4,missense_variant,p.Glu403Lys,ENST00000355779,NM_001135957.1;TRPC4,missense_variant,p.Glu403Lys,ENST00000379673,NM_001135956.1;TRPC4,missense_variant,p.Glu403Lys,ENST00000426868,;TRPC4,missense_variant,p.Glu230Lys,ENST00000379679,;TRPC4,intron_variant,,ENST00000488717,;	uc001uws.2	c.1207G>A	2065/4059	2	2			c.1207G>A						13	SNP	c.(1207-1209)GAG>AAG	25	25			ovary(3)|skin(2)|breast(1)	6	Broad	transient receptor potential cation channel,			38266163		0.438	ENSG00000133107	16330	g.chr13:38266163C>T	axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity							150.517561	KEEP	29	33	-1	41	54	29	33	-1	151.545996	41	54	0.406015	1	0	0	0	0	1	0	0	0	--	--		0	T			TRPC4_uc010abv.2_Intron|TRPC4_uc001uwt.2_Missense_Mutation_p.E403K|TRPC4_uc010tey.1_Missense_Mutation_p.E403K|TRPC4_uc010abw.2_Missense_Mutation_p.E230K|TRPC4_uc010abx.2_Missense_Mutation_p.E403K|TRPC4_uc010aby.2_Missense_Mutation_p.E403K	215	GBM-28-5204-TP	p.E403K	C	ATCATCCACTCGACGATGGTT	NM_016179	NP_057263	38266163	Q9UBN4	TRPC4_HUMAN	0		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	4	1442	-	T	T			Missense_Mutation	403			Cytoplasmic (Potential).			
TRPC4AP	0	broad.mit.edu	GRCh37	20	33591328	33591328	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs146813768		TCGA-14-1825-01	TCGA-14-1825-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252015.2:c.2141G>A	p.Arg714Gln	p.R714Q	ENST00000252015		714	cGg/cAg	0	T:0		1			T	R/Q	uc002xbk.2	protein_coding	YES	CCDS13246.1			2141/2394									central_nervous_system(1)|skin(1)	2	c.(2140-2142)CGG>CAG			Pfam_domain:PF12463,hmmpanther:PTHR31743,hmmpanther:PTHR31743:SF1	TRPC4-associated protein isoform a			T:0.0001	ENSP00000252015		18/19	1.65E-05					3.03E-05			rs146813768,COSM2758565	18/19	.		ENST00000252015	Transcript			protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding	ENSG00000100991	g.chr20:33591328C>T	16181			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=TP4AP_HUMAN&rb=407&re=718&var=R714Q	NA	getma.org/?cm=var&var=hg19,20,33591328,C,T&fts=all	R714Q	--	--	1																																		TRPC4AP_uc002xbj.2_RNA|TRPC4AP_uc010zuq.1_Missense_Mutation_p.R305Q|TRPC4AP_uc002xbl.2_Missense_Mutation_p.R706Q|TRPC4AP_uc010zur.1_Missense_Mutation_p.R675Q	0,1	1		benign(0.005)	p.R714Q	NM_015638	NP_056453		tolerated(0.16)	0,1	TP4AP_HUMAN	TRPC4AP	HGNC	Q8TEL6	TP4AP_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)				18	2175	-			UPI000004FADD	714					SNV	TRPC4AP,missense_variant,p.Arg714Gln,ENST00000252015,;TRPC4AP,missense_variant,p.Arg706Gln,ENST00000451813,NM_015638.2,NM_199368.1;TRPC4AP,missense_variant,p.Arg675Gln,ENST00000432634,;TRPC4AP,missense_variant,p.Arg316Gln,ENST00000539834,;MYH7B,downstream_gene_variant,,ENST00000262873,NM_020884.3;MYH7B,downstream_gene_variant,,ENST00000435272,;MYH7B,downstream_gene_variant,,ENST00000456649,;MYH7B,downstream_gene_variant,,ENST00000446156,;MYH7B,downstream_gene_variant,,ENST00000433934,;MYH7B,downstream_gene_variant,,ENST00000453028,;	uc002xbk.2	c.2141G>A	2231/3226	2	2			c.2141G>A						20	SNP	c.(2140-2142)CGG>CAG	26	26			central_nervous_system(1)|skin(1)	2	Broad	TRPC4-associated protein isoform a			33591328		0.612	ENSG00000100991	16331	g.chr20:33591328C>T	protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding							38.667955	KEEP	12	7	-1	22	6	12	7	-1	38.91393	22	6	0.40625	1	0	0	0	0	1	0	0	0	--	--		0	T			TRPC4AP_uc002xbj.2_RNA|TRPC4AP_uc010zuq.1_Missense_Mutation_p.R305Q|TRPC4AP_uc002xbl.2_Missense_Mutation_p.R706Q|TRPC4AP_uc010zur.1_Missense_Mutation_p.R675Q	148	GBM-14-1825-TP	p.R714Q	C	GTGCTCCATCCGCTGCAGCAG	NM_015638	NP_056453	33591328	Q8TEL6	TP4AP_HUMAN	0	BRCA - Breast invasive adenocarcinoma(18;0.00936)		18	2175	-	T	T			Missense_Mutation	714						
TRPC6	7225	broad.mit.edu	GRCh37	11	101347101	101347101	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344327.3:c.1675G>A	p.Asp559Asn	p.D559N	ENST00000344327	NM_004621.5	559	Gac/Aac	0			1			T	D/N	uc001pgk.3	protein_coding	YES	CCDS8311.1			1675/2796									skin(2)|ovary(1)|central_nervous_system(1)	4	c.(1675-1677)GAC>AAC			Pfam_domain:PF00520,Prints_domain:PR01647,hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF7,TIGRFAM_domain:TIGR00870	transient receptor potential cation channel,				ENSP00000340913		13-Jun									COSM3397350	13-Jun	.		ENST00000344327	Transcript	1		axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	ENSG00000137672	g.chr11:101347101C>T	12338			MODERATE		0.665	neutral	getma.org/?cm=msa&ty=f&p=TRPC6_HUMAN&rb=496&re=727&var=D559N	NA	getma.org/?cm=var&var=hg19,11,101347101,C,T&fts=all	D559N	--	--	1																																		TRPC6_uc009ywy.2_Missense_Mutation_p.D443N|TRPC6_uc009ywz.1_Missense_Mutation_p.D504N	1	1		benign(0.101)	p.D559N	NM_004621	NP_004612		tolerated(0.12)	1	TRPC6_HUMAN	TRPC6	HGNC	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	B3KNL3_HUMAN		6	2100	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	UPI00001374BA	559			Extracellular (Potential).		SNV	TRPC6,missense_variant,p.Asp559Asn,ENST00000344327,NM_004621.5;TRPC6,missense_variant,p.Asp504Asn,ENST00000360497,;TRPC6,missense_variant,p.Asp443Asn,ENST00000348423,;TRPC6,intron_variant,,ENST00000532133,;	uc001pgk.3	c.1675G>A	2100/4612	1	1			c.1675G>A						11	SNP	c.(1675-1677)GAC>AAC	3	3			skin(2)|ovary(1)|central_nervous_system(1)	4	Broad	transient receptor potential cation channel,			101347101		0.378	ENSG00000137672	16333	g.chr11:101347101C>T	axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	Colon(166;1315 1927 11094 12848 34731)			Colon(166;1315 1927 11094 12848 34731)			78.86147	KEEP	21	16	-1	55	56	21	16	-1	86.799959	55	56	0.24031	1	0	0	0	0	1	0	0	0	--	--		0	T			TRPC6_uc009ywy.2_Missense_Mutation_p.D443N|TRPC6_uc009ywz.1_Missense_Mutation_p.D504N	46	GBM-06-0209-TP	p.D559N	C	TCATTTGCGTCAATGATGCTC	NM_004621	NP_004612	101347101	Q9Y210	TRPC6_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;0.0442)	6	2100	-	T	T		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	Missense_Mutation	559			Extracellular (Potential).			
TRPC6	0	broad.mit.edu	GRCh37	11	101323804	101323804	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-28-2499-01	TCGA-28-2499-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344327.3:c.2678G>T	p.Ser893Ile	p.S893I	ENST00000344327	NM_004621.5	893	aGt/aTt	0			1			A	S/I	uc001pgk.3	protein_coding	YES	CCDS8311.1			2678/2796									skin(2)|ovary(1)|central_nervous_system(1)	4	c.(2677-2679)AGT>ATT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF7,TIGRFAM_domain:TIGR00870	transient receptor potential cation channel,				ENSP00000340913		13/13									COSM3397349	13/13	.		ENST00000344327	Transcript	1		axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	ENSG00000137672	g.chr11:101323804C>A	12338			MODERATE		2.63	medium	getma.org/?cm=msa&ty=f&p=TRPC6_HUMAN&rb=728&re=927&var=S893I	NA	getma.org/?cm=var&var=hg19,11,101323804,C,A&fts=all	S893I	--	--	1																																		TRPC6_uc009ywy.2_Missense_Mutation_p.S777I	1	1		probably_damaging(0.996)	p.S893I	NM_004621	NP_004612		deleterious(0)	1	TRPC6_HUMAN	TRPC6	HGNC	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	B3KNL3_HUMAN		13	3103	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	UPI00001374BA	893			Cytoplasmic (Potential).		SNV	TRPC6,missense_variant,p.Ser893Ile,ENST00000344327,NM_004621.5;TRPC6,missense_variant,p.Ser815Ile,ENST00000532133,;TRPC6,missense_variant,p.Ser838Ile,ENST00000360497,;TRPC6,missense_variant,p.Ser777Ile,ENST00000348423,;TRPC6,downstream_gene_variant,,ENST00000532184,;	uc001pgk.3	c.2678G>T	3103/4612	1	1			c.2678G>T						11	SNP	c.(2677-2679)AGT>ATT	56	56			skin(2)|ovary(1)|central_nervous_system(1)	4	Broad	transient receptor potential cation channel,			101323804		0.388	ENSG00000137672	16333	g.chr11:101323804C>A	axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	Colon(166;1315 1927 11094 12848 34731)			Colon(166;1315 1927 11094 12848 34731)			380.72807	KEEP	55	72	0.566929134	30	59	55	72	0.566929134	381.771518	30	59	0.577114	1	0	0	0	0	1	0	0	0	--	--		0	A			TRPC6_uc009ywy.2_Missense_Mutation_p.S777I	208	GBM-28-2499-TP	p.S893I	C	ATAGCGGAGACTTGAGATGTC	NM_004621	NP_004612	101323804	Q9Y210	TRPC6_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;0.0442)	13	3103	-	A	A		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	Missense_Mutation	893			Cytoplasmic (Potential).			
TRPC6	7225		GRCh37	11	101323720	101323720	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000344327.3:c.2762C>T	p.Ser921Phe	p.S921F	ENST00000344327	NM_004621.5	921	tCc/tTc	0																																																																																																																																																																																																																																												
TRPC7	57113	broad.mit.edu	GRCh37	5	135587388	135587388	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01	TCGA-06-0195-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000513104.1:c.1528G>A	p.Asp510Asn	p.D510N	ENST00000513104	NM_020389.2	510	Gac/Aac	0			1			T	D/N	uc003lbn.1	protein_coding	YES	CCDS47267.2			1528/2589										0	c.(1525-1527)GAC>AAC			TIGRFAM_domain:TIGR00870,Pfam_domain:PF00520,hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF9	transient receptor potential cation channel,				ENSP00000426070		12-Jun									COSM3409742,COSM3409743	12-Jun	.		ENST00000513104	Transcript			axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	ENSG00000069018	g.chr5:135587388C>T	20754			MODERATE		-1.04	neutral	getma.org/?cm=msa&ty=f&p=TRPC7_HUMAN&rb=441&re=672&var=D510N	NA	getma.org/?cm=var&var=hg19,5,135587388,C,T&fts=all	D510N	--	--	1																																		TRPC7_uc010jef.1_Missense_Mutation_p.D446N|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.D440N|TRPC7_uc010jei.1_Missense_Mutation_p.D385N|TRPC7_uc010jej.1_Missense_Mutation_p.D61N	1,1	1		benign(0.001)	p.D509N	NM_020389	NP_065122		tolerated(0.63)	1,1	TRPC7_HUMAN	TRPC7	HGNC	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)				5	1528	-			UPI000004F27A	510			Extracellular (Potential).		SNV	TRPC7,missense_variant,p.Asp510Asn,ENST00000513104,NM_020389.2;TRPC7,missense_variant,p.Asp449Asn,ENST00000355180,NM_001167577.1;TRPC7,missense_variant,p.Asp394Asn,ENST00000426057,NM_001167576.1;TRPC7,missense_variant,p.Asp455Asn,ENST00000502753,;TRPC7,missense_variant,p.Asp449Asn,ENST00000378459,;TRPC7,missense_variant,p.Asp394Asn,ENST00000352189,;TRPC7,3_prime_UTR_variant,,ENST00000503275,;TRPC7,3_prime_UTR_variant,,ENST00000514963,;	uc003lbn.1	c.1525G>A	1811/2987	2	2			c.1525G>A						5	SNP	c.(1525-1527)GAC>AAC	17	17				0	Broad	transient receptor potential cation channel,			135587388		0.602	ENSG00000069018	16334	g.chr5:135587388C>T	axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding							71.720633	KEEP	16	14	-1	25	33	16	14	-1	73.641166	25	33	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	T			TRPC7_uc010jef.1_Missense_Mutation_p.D446N|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.D440N|TRPC7_uc010jei.1_Missense_Mutation_p.D385N|TRPC7_uc010jej.1_Missense_Mutation_p.D61N	45	GBM-06-0195-TP	p.D509N	C	TGCAGCGTGTCGTCCTGCACG	NM_020389	NP_065122	135587388	Q9HCX4	TRPC7_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		5	1528	-	T	T			Missense_Mutation	510			Extracellular (Potential).			
TRPC7	57113	broad.mit.edu	GRCh37	5	135583350	135583350	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5415-01	TCGA-06-5415-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000513104.1:c.1653C>T	p.Ser551=	p.S551=	ENST00000513104	NM_020389.2	551	agC/agT	0		A:0.0008	1	A:0		A	S	uc003lbn.1	protein_coding	YES	CCDS47267.2			1653/2589										0	c.(1648-1650)AGC>AGT			TIGRFAM_domain:TIGR00870,Pfam_domain:PF00520,hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF9	transient receptor potential cation channel,		A:0		ENSP00000426070	A:0	12-Jul	1.65E-05	0.000204							rs575768183,COSM3409740,COSM3409741	12-Jul	.		ENST00000513104	Transcript		A:0.0002	axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	ENSG00000069018	g.chr5:135583350G>A	20754			LOW								--	--	1																																		TRPC7_uc010jef.1_Silent_p.S487S|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Silent_p.S481S|TRPC7_uc010jei.1_Silent_p.S426S|TRPC7_uc010jej.1_Silent_p.S102S	0,1,1	1			p.S550S	NM_020389	NP_065122	A:0		0,1,1	TRPC7_HUMAN	TRPC7	HGNC	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)				6	1653	-			UPI000004F27A	551			Helical; (Potential).		SNV	TRPC7,synonymous_variant,p.=,ENST00000513104,NM_020389.2;TRPC7,synonymous_variant,p.=,ENST00000355180,NM_001167577.1;TRPC7,synonymous_variant,p.=,ENST00000426057,NM_001167576.1;TRPC7,synonymous_variant,p.=,ENST00000502753,;TRPC7,synonymous_variant,p.=,ENST00000378459,;TRPC7,synonymous_variant,p.=,ENST00000352189,;TRPC7,3_prime_UTR_variant,,ENST00000503275,;TRPC7,3_prime_UTR_variant,,ENST00000514963,;	uc003lbn.1	c.1650C>T	1936/2987	2	2			c.1650C>T						5	SNP	c.(1648-1650)AGC>AGT	32	32				0	Broad	transient receptor potential cation channel,			135583350		0.502	ENSG00000069018	16334	g.chr5:135583350G>A	axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding							191.628262	KEEP	29	39	-1	43	41	29	39	-1	191.846393	43	41	0.458333	1	0	0	0	0	0	0	1	0	--	--		0	A			TRPC7_uc010jef.1_Silent_p.S487S|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Silent_p.S481S|TRPC7_uc010jei.1_Silent_p.S426S|TRPC7_uc010jej.1_Silent_p.S102S	98	GBM-06-5415-TP	p.S550S	G	TGCGAGAGAAGCTCAGCACGA	NM_020389	NP_065122	135583350	Q9HCX4	TRPC7_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		6	1653	-	A	A			Silent	551			Helical; (Potential).			
TRPC7	0	broad.mit.edu	GRCh37	5	135692836	135692836	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000513104.1:c.240C>T	p.Asn80=	p.N80=	ENST00000513104	NM_020389.2	80	aaC/aaT	0			1			A	N	uc003lbn.1	protein_coding	YES	CCDS47267.2			240/2589										0	c.(235-237)AAC>AAT			Superfamily_domains:SSF48403,SMART_domains:SM00248,TIGRFAM_domain:TIGR00870,Pfam_domain:PF12796,Gene3D:1.25.40.20,hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF9	transient receptor potential cation channel,				ENSP00000426070		12-Feb									COSM3409744,COSM3409745	12-Feb	.		ENST00000513104	Transcript			axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	ENSG00000069018	g.chr5:135692836G>A	20754			LOW								--	--	1																																		TRPC7_uc010jef.1_Silent_p.N71N|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Silent_p.N71N|TRPC7_uc010jei.1_Silent_p.N71N|TRPC7_uc010jej.1_Translation_Start_Site	1,1	1			p.N79N	NM_020389	NP_065122			1,1	TRPC7_HUMAN	TRPC7	HGNC	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)				1	240	-			UPI000004F27A	80			Cytoplasmic (Potential).|ANK 2.		SNV	TRPC7,synonymous_variant,p.=,ENST00000513104,NM_020389.2;TRPC7,synonymous_variant,p.=,ENST00000355180,NM_001167577.1;TRPC7,synonymous_variant,p.=,ENST00000426057,NM_001167576.1;TRPC7,synonymous_variant,p.=,ENST00000502753,;TRPC7,synonymous_variant,p.=,ENST00000378459,;TRPC7,synonymous_variant,p.=,ENST00000352189,;TRPC7,synonymous_variant,p.=,ENST00000503275,;TRPC7,synonymous_variant,p.=,ENST00000514963,;	uc003lbn.1	c.237C>T	523/2987	2	2			c.237C>T						5	SNP	c.(235-237)AAC>AAT	35	35				0	Broad	transient receptor potential cation channel,			135692836		0.607	ENSG00000069018	16334	g.chr5:135692836G>A	axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding							112.040151	KEEP	10	37	-1	52	59	10	37	-1	117.514999	52	59	0.294521	1	0	0	0	0	0	0	1	0	--	--		0	A			TRPC7_uc010jef.1_Silent_p.N71N|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Silent_p.N71N|TRPC7_uc010jei.1_Silent_p.N71N|TRPC7_uc010jej.1_Translation_Start_Site	142	GBM-14-1034-TP	p.N79N	G	GCTGCAGAGCGTTCTGCCCCA	NM_020389	NP_065122	135692836	Q9HCX4	TRPC7_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	240	-	A	A			Silent	80			Cytoplasmic (Potential).|ANK 2.			
TRPC7	0	broad.mit.edu	GRCh37	5	135692954	135692954	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01	TCGA-19-5952-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000513104.1:c.122C>T	p.Thr41Met	p.T41M	ENST00000513104	NM_020389.2	41	aCg/aTg	0			1			A	T/M	uc003lbn.1	protein_coding	YES	CCDS47267.2			122/2589										0	c.(118-120)ACG>ATG			TIGRFAM_domain:TIGR00870,hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF9	transient receptor potential cation channel,				ENSP00000426070		12-Feb									COSM3409746,COSM3409747	12-Feb	.		ENST00000513104	Transcript			axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	ENSG00000069018	g.chr5:135692954G>A	20754			MODERATE		1.525	low	getma.org/?cm=msa&ty=f&p=TRPC7_HUMAN&rb=1&re=48&var=T41M	NA	getma.org/?cm=var&var=hg19,5,135692954,G,A&fts=all	T41M	--	--	1																																		TRPC7_uc010jef.1_Missense_Mutation_p.T32M|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.T32M|TRPC7_uc010jei.1_Missense_Mutation_p.T32M|TRPC7_uc010jej.1_Translation_Start_Site	1,1	1		possibly_damaging(0.714)	p.T40M	NM_020389	NP_065122		deleterious(0)	1,1	TRPC7_HUMAN	TRPC7	HGNC	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)				1	122	-			UPI000004F27A	41			Cytoplasmic (Potential).		SNV	TRPC7,missense_variant,p.Thr41Met,ENST00000513104,NM_020389.2;TRPC7,missense_variant,p.Thr41Met,ENST00000355180,NM_001167577.1;TRPC7,missense_variant,p.Thr41Met,ENST00000426057,NM_001167576.1;TRPC7,missense_variant,p.Thr41Met,ENST00000502753,;TRPC7,missense_variant,p.Thr41Met,ENST00000378459,;TRPC7,missense_variant,p.Thr41Met,ENST00000352189,;TRPC7,missense_variant,p.Thr41Met,ENST00000503275,;TRPC7,missense_variant,p.Thr41Met,ENST00000514963,;	uc003lbn.1	c.119C>T	405/2987	2	2			c.119C>T						5	SNP	c.(118-120)ACG>ATG	43	43				0	Broad	transient receptor potential cation channel,			135692954		0.602	ENSG00000069018	16334	g.chr5:135692954G>A	axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding							176.926839	KEEP	46	28	-1	55	69	46	28	-1	180.128677	55	69	0.354651	1	0	0	0	0	1	0	0	0	--	--		0	A			TRPC7_uc010jef.1_Missense_Mutation_p.T32M|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.T32M|TRPC7_uc010jei.1_Missense_Mutation_p.T32M|TRPC7_uc010jej.1_Translation_Start_Site	172	GBM-19-5952-TP	p.T40M	G	CTCCTCGGGCGTCAGACTGGT	NM_020389	NP_065122	135692954	Q9HCX4	TRPC7_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	122	-	A	A			Missense_Mutation	41			Cytoplasmic (Potential).			
TRPC7	0	broad.mit.edu	GRCh37	5	135692416	135692416	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-26-1439-01	TCGA-26-1439-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000513104.1:c.660C>T	p.Asn220=	p.N220=	ENST00000513104	NM_020389.2	220	aaC/aaT	0			1			A	N	uc003lbn.1	protein_coding	YES	CCDS47267.2			660/2589										0	c.(655-657)AAC>AAT			TIGRFAM_domain:TIGR00870,Pfam_domain:PF08344,hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF9	transient receptor potential cation channel,				ENSP00000426070		12-Feb									COSM165178,COSM165177	12-Feb	.		ENST00000513104	Transcript			axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	ENSG00000069018	g.chr5:135692416G>A	20754			LOW								--	--	1																																		TRPC7_uc010jef.1_Silent_p.N211N|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Silent_p.N211N|TRPC7_uc010jei.1_Silent_p.N211N|TRPC7_uc010jej.1_Translation_Start_Site	1,1	1			p.N219N	NM_020389	NP_065122			1,1	TRPC7_HUMAN	TRPC7	HGNC	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)				1	660	-			UPI000004F27A	220			Cytoplasmic (Potential).		SNV	TRPC7,synonymous_variant,p.=,ENST00000513104,NM_020389.2;TRPC7,synonymous_variant,p.=,ENST00000355180,NM_001167577.1;TRPC7,synonymous_variant,p.=,ENST00000426057,NM_001167576.1;TRPC7,synonymous_variant,p.=,ENST00000502753,;TRPC7,synonymous_variant,p.=,ENST00000378459,;TRPC7,synonymous_variant,p.=,ENST00000352189,;TRPC7,synonymous_variant,p.=,ENST00000503275,;TRPC7,synonymous_variant,p.=,ENST00000514963,;	uc003lbn.1	c.657C>T	943/2987	1	1			c.657C>T						5	SNP	c.(655-657)AAC>AAT	55	55				0	Broad	transient receptor potential cation channel,			135692416		0.607	ENSG00000069018	16334	g.chr5:135692416G>A	axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding							77.898272	KEEP	21	10	-1	17	23	21	10	-1	78.07552	17	23	0.442623	1	0	0	0	0	0	0	1	0	--	--		0	A			TRPC7_uc010jef.1_Silent_p.N211N|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Silent_p.N211N|TRPC7_uc010jei.1_Silent_p.N211N|TRPC7_uc010jej.1_Translation_Start_Site	179	GBM-26-1439-TP	p.N219N	G	CTTTGTAGGCGTTCATGCGCG	NM_020389	NP_065122	135692416	Q9HCX4	TRPC7_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	660	-	A	A			Silent	220			Cytoplasmic (Potential).			
TRPC7	0	broad.mit.edu	GRCh37	5	135692995	135692995	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000513104.1:c.81G>A	p.Arg27=	p.R27=	ENST00000513104	NM_020389.2	27	cgG/cgA	0			1			T	R	uc003lbn.1	protein_coding	YES	CCDS47267.2			81/2589										0	c.(76-78)CGG>CGA			TIGRFAM_domain:TIGR00870,hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF9	transient receptor potential cation channel,				ENSP00000426070		12-Feb									COSM3409748,COSM3409749	12-Feb	.		ENST00000513104	Transcript			axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	ENSG00000069018	g.chr5:135692995C>T	20754			LOW								--	--	1																																		TRPC7_uc010jef.1_Silent_p.R18R|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Silent_p.R18R|TRPC7_uc010jei.1_Silent_p.R18R|TRPC7_uc010jej.1_5'UTR	1,1	1			p.R26R	NM_020389	NP_065122			1,1	TRPC7_HUMAN	TRPC7	HGNC	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)				1	81	-			UPI000004F27A	27			Cytoplasmic (Potential).		SNV	TRPC7,synonymous_variant,p.=,ENST00000513104,NM_020389.2;TRPC7,synonymous_variant,p.=,ENST00000355180,NM_001167577.1;TRPC7,synonymous_variant,p.=,ENST00000426057,NM_001167576.1;TRPC7,synonymous_variant,p.=,ENST00000502753,;TRPC7,synonymous_variant,p.=,ENST00000378459,;TRPC7,synonymous_variant,p.=,ENST00000352189,;TRPC7,synonymous_variant,p.=,ENST00000503275,;TRPC7,synonymous_variant,p.=,ENST00000514963,;	uc003lbn.1	c.78G>A	364/2987	1	1			c.78G>A						5	SNP	c.(76-78)CGG>CGA	11	11				0	Broad	transient receptor potential cation channel,			135692995		0.612	ENSG00000069018	16334	g.chr5:135692995C>T	axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding							307.378439	KEEP	57	47	-1	57	53	57	47	-1	307.382733	57	53	0.49505	1	0	0	0	0	0	0	1	0	--	--		0	T			TRPC7_uc010jef.1_Silent_p.R18R|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Silent_p.R18R|TRPC7_uc010jei.1_Silent_p.R18R|TRPC7_uc010jej.1_5'UTR	265	GBM-76-4925-TP	p.R26R	C	AGGCGGGACCCCGGATGGCCT	NM_020389	NP_065122	135692995	Q9HCX4	TRPC7_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	81	-	T	T			Silent	27			Cytoplasmic (Potential).			
TRPC7	57113		GRCh37	5	135693041	135693041	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000513104.1:c.35G>A	p.Arg12His	p.R12H	ENST00000513104	NM_020389.2	12	cGc/cAc	0																																																																																																																																																																																																																																												
TRPM1	4308	broad.mit.edu	GRCh37	15	31294188	31294188	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0745-01	TCGA-06-0745-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000542188.1:c.4766C>A	p.Ser1589Ter	p.S1589*	ENST00000542188	NM_001252020.1	1589	tCa/tAa	0			1			T	S/*	uc001zfm.2	protein_coding		CCDS10024.2			4649/4812									ovary(2)|pancreas(1)|skin(1)	4	c.(4648-4650)TCA>TAA			hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF13	transient receptor potential cation channel,				ENSP00000380897		27/27									COSM2151756	27/27	.		ENST00000397795	Transcript	1		cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	ENSG00000134160	g.chr15:31294188G>T	7146			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,15,31294188,G,T&fts=all	S1550*	--	--	1																																		TRPM1_uc010azy.2_Nonsense_Mutation_p.S1457*|TRPM1_uc001zfl.2_RNA	1				p.S1550*	NM_002420	NP_002411			1	TRPM1_HUMAN	TRPM1	HGNC	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	H0YKU7_HUMAN		27	4777	-		all_lung(180;1.92e-11)	UPI00001FE144	1550			Cytoplasmic (Potential).		SNV	TRPM1,stop_gained,p.Ser1589Ter,ENST00000542188,NM_001252020.1;TRPM1,stop_gained,p.Ser1550Ter,ENST00000397795,NM_002420.5;TRPM1,stop_gained,p.Ser1572Ter,ENST00000256552,NM_001252024.1;TRPM1,stop_gained,p.Ser1474Ter,ENST00000558768,;TRPM1,downstream_gene_variant,,ENST00000558445,;TRPM1,downstream_gene_variant,,ENST00000559177,;RP11-348B17.1,upstream_gene_variant,,ENST00000561299,;TRPM1,3_prime_UTR_variant,,ENST00000560801,;	uc001zfm.2	c.4649C>A	4763/5687	5	1			c.4649C>A						15	SNP	c.(4648-4650)TCA>TAA	3	3			ovary(2)|pancreas(1)|skin(1)	4	Broad	transient receptor potential cation channel,			31294188		0.428	ENSG00000134160	16335	g.chr15:31294188G>T	cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity							341.121528	KEEP	66	40	0.622641509	29	17	66	40	0.622641509	346.933573	29	17	0.709459	1	0	0	0	0	0	1	0	0	--	--		0	T			TRPM1_uc010azy.2_Nonsense_Mutation_p.S1457*|TRPM1_uc001zfl.2_RNA	67	GBM-06-0745-TP	p.S1550*	G	TAAACTTTTTGACCTGAGAGA	NM_002420	NP_002411	31294188	Q7Z4N2	TRPM1_HUMAN	0		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	27	4777	-	T	T		all_lung(180;1.92e-11)	Nonsense_Mutation	1550			Cytoplasmic (Potential).			
TRPM1	0	broad.mit.edu	GRCh37	15	31295059	31295059	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397795.2:c.3778C>T	p.Arg1260Trp	p.R1260W	ENST00000397795	NM_002420.5	1260	Cgg/Tgg	0	A:0.0002	A:0	1	A:0		A	R/W	uc001zfm.2	protein_coding		CCDS10024.2			3778/4812									ovary(2)|pancreas(1)|skin(1)	4	c.(3778-3780)CGG>TGG			hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF13	transient receptor potential cation channel,		A:0	A:0	ENSP00000380897	A:0	27/27	5.78E-05	0.000102				1.50E-05		0.000303	rs372226363,COSM165180	27/27	.		ENST00000397795	Transcript	1	A:0.0002	cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	ENSG00000134160	g.chr15:31295059G>A	7146			MODERATE		2.35	medium	getma.org/?cm=msa&ty=f&p=TRPM1_HUMAN&rb=1076&re=1275&var=R1260W	NA	getma.org/?cm=var&var=hg19,15,31295059,G,A&fts=all	R1260W	--	--	1																																		TRPM1_uc010azy.2_Missense_Mutation_p.R1167W|TRPM1_uc001zfl.2_RNA	0,1			probably_damaging(0.984)	p.R1260W	NM_002420	NP_002411	A:0.001	deleterious(0)	0,1	TRPM1_HUMAN	TRPM1	HGNC	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	H0YKU7_HUMAN		27	3906	-		all_lung(180;1.92e-11)	UPI00001FE144	1260			Cytoplasmic (Potential).		SNV	TRPM1,missense_variant,p.Arg1299Trp,ENST00000542188,NM_001252020.1;TRPM1,missense_variant,p.Arg1260Trp,ENST00000397795,NM_002420.5;TRPM1,missense_variant,p.Arg1282Trp,ENST00000256552,NM_001252024.1;TRPM1,missense_variant,p.Arg1184Trp,ENST00000558768,;TRPM1,missense_variant,p.Arg1260Trp,ENST00000558445,;TRPM1,missense_variant,p.Arg375Trp,ENST00000559177,;RP11-348B17.1,intron_variant,,ENST00000561299,;TRPM1,3_prime_UTR_variant,,ENST00000560801,;	uc001zfm.2	c.3778C>T	3892/5687	2	2			c.3778C>T						15	SNP	c.(3778-3780)CGG>TGG	24	24			ovary(2)|pancreas(1)|skin(1)	4	Broad	transient receptor potential cation channel,			31295059		0.473	ENSG00000134160	16335	g.chr15:31295059G>A	cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity							-10.676133	KEEP	2	5	-1	77	48	2	5	-1	15.231222	77	48	0.056	1	0	0	0	0	1	0	0	0	--	--		0	A			TRPM1_uc010azy.2_Missense_Mutation_p.R1167W|TRPM1_uc001zfl.2_RNA	162	GBM-19-2620-TP	p.R1260W	G	CTGCTTTGCCGGAGAAGATAC	NM_002420	NP_002411	31295059	Q7Z4N2	TRPM1_HUMAN	0		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	27	3906	-	A	A		all_lung(180;1.92e-11)	Missense_Mutation	1260			Cytoplasmic (Potential).			
TRPM1	4308		GRCh37	15	31360288	31360288	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000542188.1:c.338G>A	p.Arg113His	p.R113H	ENST00000542188	NM_001252020.1	113	cGt/cAt	0																																																																																																																																																																																																																																												
TRPM2	7226	broad.mit.edu	GRCh37	21	45825917	45825917	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0875-01	TCGA-06-0875-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397928.1:c.2787G>A	p.Arg929=	p.R929=	ENST00000397928	NM_003307.3	929	cgG/cgA	0			1			A	R	uc002zet.1	protein_coding		CCDS13710.1			2787/4512									ovary(1)|central_nervous_system(1)|pancreas(1)	3	c.(2785-2787)CGG>CGA			Pfam_domain:PF00520,hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF2	transient receptor potential cation channel,				ENSP00000300482		19/33									COSM2152040	19/33	.		ENST00000300482	Transcript				integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	ENSG00000142185	g.chr21:45825917G>A	12339			LOW								--	--	1																																		TRPM2_uc002zeu.1_Silent_p.R929R|TRPM2_uc002zew.1_Silent_p.R929R|TRPM2_uc010gpt.1_Silent_p.R929R|TRPM2_uc002zex.1_Silent_p.R715R|TRPM2_uc002zey.1_Silent_p.R442R	1				p.R929R	NM_003307	NP_003298			1	TRPM2_HUMAN	TRPM2	HGNC	O94759	TRPM2_HUMAN			C9JZQ8_HUMAN		19	3000	+			UPI0000169D60	929			Cytoplasmic (Potential).		SNV	TRPM2,synonymous_variant,p.=,ENST00000397928,NM_003307.3;TRPM2,synonymous_variant,p.=,ENST00000300482,;TRPM2,synonymous_variant,p.=,ENST00000300481,;TRPM2,synonymous_variant,p.=,ENST00000397932,;TRPM2,non_coding_transcript_exon_variant,,ENST00000498430,;	uc002zet.1	c.2787G>A	3000/5989	2	2			c.2787G>A						21	SNP	c.(2785-2787)CGG>CGA	28	28			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Broad	transient receptor potential cation channel,			45825917		0.627	ENSG00000142185	16336	g.chr21:45825917G>A		integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity							329.598908	KEEP	66	57	-1	90	65	66	57	-1	329.864903	90	65	0.463519	1	0	0	0	0	0	0	1	0	--	--		0	A			TRPM2_uc002zeu.1_Silent_p.R929R|TRPM2_uc002zew.1_Silent_p.R929R|TRPM2_uc010gpt.1_Silent_p.R929R|TRPM2_uc002zex.1_Silent_p.R715R|TRPM2_uc002zey.1_Silent_p.R442R	71	GBM-06-0875-TP	p.R929R	G	TTGTGAAGCGGATGGTAAGGG	NM_003307	NP_003298	45825917	O94759	TRPM2_HUMAN	0			19	3000	+	A	A			Silent	929			Cytoplasmic (Potential).			
TRPM2	7226	broad.mit.edu	GRCh37	21	45826547	45826547	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0882-01	TCGA-06-0882-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397928.1:c.2861C>A	p.Ala954Asp	p.A954D	ENST00000397928	NM_003307.3	954	gCc/gAc	0			1			A	A/D	uc002zet.1	protein_coding		CCDS13710.1			2861/4512									ovary(1)|central_nervous_system(1)|pancreas(1)	3	c.(2860-2862)GCC>GAC			Pfam_domain:PF00520,hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF2,Transmembrane_helices:TMhelix	transient receptor potential cation channel,				ENSP00000300482		20/33									COSM2152342	20/33	.		ENST00000300482	Transcript				integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	ENSG00000142185	g.chr21:45826547C>A	12339			MODERATE		3.085	medium	getma.org/?cm=msa&ty=f&p=TRPM2_HUMAN&rb=830&re=1048&var=A954D	NA	getma.org/?cm=var&var=hg19,21,45826547,C,A&fts=all	A954D	--	--	1																																		TRPM2_uc002zeu.1_Missense_Mutation_p.A954D|TRPM2_uc002zew.1_Missense_Mutation_p.A954D|TRPM2_uc010gpt.1_Missense_Mutation_p.A954D|TRPM2_uc002zex.1_Missense_Mutation_p.A740D|TRPM2_uc002zey.1_Missense_Mutation_p.A467D	1			probably_damaging(0.988)	p.A954D	NM_003307	NP_003298		deleterious(0)	1	TRPM2_HUMAN	TRPM2	HGNC	O94759	TRPM2_HUMAN			C9JZQ8_HUMAN		20	3074	+			UPI0000169D60	954			Helical; (Potential).		SNV	TRPM2,missense_variant,p.Ala954Asp,ENST00000397928,NM_003307.3;TRPM2,missense_variant,p.Ala954Asp,ENST00000300482,;TRPM2,missense_variant,p.Ala934Asp,ENST00000300481,;TRPM2,missense_variant,p.Ala954Asp,ENST00000397932,;TRPM2,non_coding_transcript_exon_variant,,ENST00000498430,;	uc002zet.1	c.2861C>A	3074/5989	1	1			c.2861C>A						21	SNP	c.(2860-2862)GCC>GAC	54	54			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Broad	transient receptor potential cation channel,			45826547		0.607	ENSG00000142185	16336	g.chr21:45826547C>A		integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity							14.542926	KEEP	7	1	0.125	16	11	7	1	0.125	15.116576	16	11	0.315789	1	0	0	0	0	1	0	0	0	--	--		0	A			TRPM2_uc002zeu.1_Missense_Mutation_p.A954D|TRPM2_uc002zew.1_Missense_Mutation_p.A954D|TRPM2_uc010gpt.1_Missense_Mutation_p.A954D|TRPM2_uc002zex.1_Missense_Mutation_p.A740D|TRPM2_uc002zey.1_Missense_Mutation_p.A467D	77	GBM-06-0882-TP	p.A954D	C	GCCAAGCAGGCCATCCTCATC	NM_003307	NP_003298	45826547	O94759	TRPM2_HUMAN	0			20	3074	+	A	A			Missense_Mutation	954			Helical; (Potential).			
TRPM2	7226	broad.mit.edu	GRCh37	21	45789188	45789188	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01	TCGA-06-2563-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397928.1:c.733G>A	p.Gly245Ser	p.G245S	ENST00000397928	NM_003307.3	245	Ggc/Agc	0			1			A	G/S	uc002zet.1	protein_coding		CCDS13710.1			733/4512									ovary(1)|central_nervous_system(1)|pancreas(1)	3	c.(733-735)GGC>AGC			Gene3D:3.40.50.450,hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF2	transient receptor potential cation channel,				ENSP00000300482		Jun-33	8.24E-06					1.54E-05			rs762836395,COSM2152851	Jun-33	.		ENST00000300482	Transcript				integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	ENSG00000142185	g.chr21:45789188G>A	12339			MODERATE		2.81	medium	getma.org/?cm=msa&ty=f&p=TRPM2_HUMAN&rb=201&re=400&var=G245S	NA	getma.org/?cm=var&var=hg19,21,45789188,G,A&fts=all	G245S	--	--	1																																		TRPM2_uc002zeu.1_Missense_Mutation_p.G245S|TRPM2_uc002zew.1_Missense_Mutation_p.G245S|TRPM2_uc010gpt.1_Missense_Mutation_p.G245S|TRPM2_uc002zex.1_Missense_Mutation_p.G31S	0,1			probably_damaging(1)	p.G245S	NM_003307	NP_003298		deleterious(0.02)	0,1	TRPM2_HUMAN	TRPM2	HGNC	O94759	TRPM2_HUMAN			C9JZQ8_HUMAN		6	946	+			UPI0000169D60	245			Cytoplasmic (Potential).		SNV	TRPM2,missense_variant,p.Gly245Ser,ENST00000397928,NM_003307.3;TRPM2,missense_variant,p.Gly245Ser,ENST00000300482,;TRPM2,missense_variant,p.Gly245Ser,ENST00000300481,;TRPM2,missense_variant,p.Gly245Ser,ENST00000397932,;TRPM2,downstream_gene_variant,,ENST00000431901,;TRPM2,non_coding_transcript_exon_variant,,ENST00000498430,;	uc002zet.1	c.733G>A	946/5989	2	2			c.733G>A						21	SNP	c.(733-735)GGC>AGC	21	21			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Broad	transient receptor potential cation channel,			45789188		0.667	ENSG00000142185	16336	g.chr21:45789188G>A		integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity							45.477649	KEEP	10	9	-1	18	11	10	9	-1	45.62751	18	11	0.432432	1	0	0	0	0	1	0	0	0	--	--		0	A			TRPM2_uc002zeu.1_Missense_Mutation_p.G245S|TRPM2_uc002zew.1_Missense_Mutation_p.G245S|TRPM2_uc010gpt.1_Missense_Mutation_p.G245S|TRPM2_uc002zex.1_Missense_Mutation_p.G31S	86	GBM-06-2563-TP	p.G245S	G	CGCCACCTGGGGCACTGTCCA	NM_003307	NP_003298	45789188	O94759	TRPM2_HUMAN	0			6	946	+	A	A			Missense_Mutation	245			Cytoplasmic (Potential).			
TRPM2	0	broad.mit.edu	GRCh37	21	45821664	45821664	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01	TCGA-14-1395-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300482.5:c.2422G>A	p.Ala808Thr	p.A808T	ENST00000300482		808	Gcc/Acc	0			1			A	A/T	uc002zet.1	protein_coding		CCDS13710.1			2422/4512									ovary(1)|central_nervous_system(1)|pancreas(1)	3	c.(2422-2424)GCC>ACC			hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF2,Transmembrane_helices:TMhelix	transient receptor potential cation channel,				ENSP00000300482		17/33	4.12E-05			0.000116		1.51E-05		0.000182	rs749888700,COSM1031269	17/33	.		ENST00000300482	Transcript				integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	ENSG00000142185	g.chr21:45821664G>A	12339			MODERATE		1.07	low	getma.org/?cm=msa&ty=f&p=TRPM2_HUMAN&rb=771&re=859&var=A808T	NA	getma.org/?cm=var&var=hg19,21,45821664,G,A&fts=all	A808T	--	--	1																																		TRPM2_uc002zeu.1_Missense_Mutation_p.A808T|TRPM2_uc002zew.1_Missense_Mutation_p.A808T|TRPM2_uc010gpt.1_Missense_Mutation_p.A808T|TRPM2_uc002zex.1_Missense_Mutation_p.A594T|TRPM2_uc002zey.1_Missense_Mutation_p.A321T	0,1			benign(0.01)	p.A808T	NM_003307	NP_003298		tolerated(0.21)	0,1	TRPM2_HUMAN	TRPM2	HGNC	O94759	TRPM2_HUMAN			C9JZQ8_HUMAN		17	2635	+			UPI0000169D60	808			Helical; (Potential).		SNV	TRPM2,missense_variant,p.Ala808Thr,ENST00000397928,NM_003307.3;TRPM2,missense_variant,p.Ala808Thr,ENST00000300482,;TRPM2,missense_variant,p.Ala788Thr,ENST00000300481,;TRPM2,missense_variant,p.Ala808Thr,ENST00000397932,;TRPM2,non_coding_transcript_exon_variant,,ENST00000498430,;	uc002zet.1	c.2422G>A	2635/5989	1	1			c.2422G>A						21	SNP	c.(2422-2424)GCC>ACC	55	55			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Broad	transient receptor potential cation channel,			45821664		0.632	ENSG00000142185	16336	g.chr21:45821664G>A		integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity							303.356579	KEEP	55	70	-1	77	63	55	70	-1	303.682306	77	63	0.459227	1	0	0	0	0	1	0	0	0	--	--		0	A			TRPM2_uc002zeu.1_Missense_Mutation_p.A808T|TRPM2_uc002zew.1_Missense_Mutation_p.A808T|TRPM2_uc010gpt.1_Missense_Mutation_p.A808T|TRPM2_uc002zex.1_Missense_Mutation_p.A594T|TRPM2_uc002zey.1_Missense_Mutation_p.A321T	144	GBM-14-1395-TP	p.A808T	G	CTCCTACTTCGCCTTCCTCTG	NM_003307	NP_003298	45821664	O94759	TRPM2_HUMAN	0			17	2635	+	A	A			Missense_Mutation	808			Helical; (Potential).			
TRPM2	0	broad.mit.edu	GRCh37	21	45798938	45798938	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-1747-01	TCGA-28-1747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300482.5:c.1073G>A	p.Arg358His	p.R358H	ENST00000300482		358	cGc/cAc	0			1			A	R/H	uc002zet.1	protein_coding		CCDS13710.1			1073/4512									ovary(1)|central_nervous_system(1)|pancreas(1)	3	c.(1072-1074)CGC>CAC			Gene3D:3.40.50.450,hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF2	transient receptor potential cation channel,				ENSP00000300482		Sep-33									COSM3405446	Sep-33	.		ENST00000300482	Transcript				integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	ENSG00000142185	g.chr21:45798938G>A	12339			MODERATE		3.265	medium	getma.org/?cm=msa&ty=f&p=TRPM2_HUMAN&rb=201&re=400&var=R358H	NA	getma.org/?cm=var&var=hg19,21,45798938,G,A&fts=all	R358H	--	--	1																																		TRPM2_uc002zeu.1_Missense_Mutation_p.R358H|TRPM2_uc002zew.1_Missense_Mutation_p.R358H|TRPM2_uc010gpt.1_Missense_Mutation_p.R358H|TRPM2_uc002zex.1_Missense_Mutation_p.R144H	1			probably_damaging(0.983)	p.R358H	NM_003307	NP_003298		deleterious(0)	1	TRPM2_HUMAN	TRPM2	HGNC	O94759	TRPM2_HUMAN			C9JZQ8_HUMAN		9	1286	+			UPI0000169D60	358			Cytoplasmic (Potential).		SNV	TRPM2,missense_variant,p.Arg358His,ENST00000397928,NM_003307.3;TRPM2,missense_variant,p.Arg358His,ENST00000300482,;TRPM2,missense_variant,p.Arg358His,ENST00000300481,;TRPM2,missense_variant,p.Arg358His,ENST00000397932,;TRPM2,non_coding_transcript_exon_variant,,ENST00000498430,;	uc002zet.1	c.1073G>A	1286/5989	2	2			c.1073G>A						21	SNP	c.(1072-1074)CGC>CAC	20	20			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Broad	transient receptor potential cation channel,			45798938		0.622	ENSG00000142185	16336	g.chr21:45798938G>A		integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity							77.624925	KEEP	18	19	-1	32	38	18	19	-1	79.358405	32	38	0.348837	1	0	0	0	0	1	0	0	0	--	--		0	A			TRPM2_uc002zeu.1_Missense_Mutation_p.R358H|TRPM2_uc002zew.1_Missense_Mutation_p.R358H|TRPM2_uc010gpt.1_Missense_Mutation_p.R358H|TRPM2_uc002zex.1_Missense_Mutation_p.R144H	206	GBM-28-1747-TP	p.R358H	G	GGCTCGGGCCGCGTGGCCGAC	NM_003307	NP_003298	45798938	O94759	TRPM2_HUMAN	0			9	1286	+	A	A			Missense_Mutation	358			Cytoplasmic (Potential).			
TRPM2	0	broad.mit.edu	GRCh37	21	45786659	45786659	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-28-5220-01	TCGA-28-5220-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300482.5:c.446C>G	p.Thr149Arg	p.T149R	ENST00000300482		149	aCg/aGg	0			1			G	T/R	uc002zet.1	protein_coding		CCDS13710.1			446/4512									ovary(1)|central_nervous_system(1)|pancreas(1)	3	c.(445-447)ACG>AGG			hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF2	transient receptor potential cation channel,				ENSP00000300482		May-33									COSM3405444	May-33	.		ENST00000300482	Transcript				integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	ENSG00000142185	g.chr21:45786659C>G	12339			MODERATE		3.105	medium	getma.org/?cm=msa&ty=f&p=TRPM2_HUMAN&rb=1&re=200&var=T149R	NA	getma.org/?cm=var&var=hg19,21,45786659,C,G&fts=all	T149R	--	--	1																																		TRPM2_uc002zeu.1_Missense_Mutation_p.T149R|TRPM2_uc002zew.1_Missense_Mutation_p.T149R|TRPM2_uc010gpt.1_Missense_Mutation_p.T149R|TRPM2_uc002zex.1_5'Flank	1			probably_damaging(1)	p.T149R	NM_003307	NP_003298		deleterious(0)	1	TRPM2_HUMAN	TRPM2	HGNC	O94759	TRPM2_HUMAN			C9JZQ8_HUMAN		5	659	+			UPI0000169D60	149			Cytoplasmic (Potential).		SNV	TRPM2,missense_variant,p.Thr149Arg,ENST00000397928,NM_003307.3;TRPM2,missense_variant,p.Thr149Arg,ENST00000300482,;TRPM2,missense_variant,p.Thr149Arg,ENST00000300481,;TRPM2,missense_variant,p.Thr149Arg,ENST00000397932,;TRPM2,downstream_gene_variant,,ENST00000431901,;TRPM2,upstream_gene_variant,,ENST00000498430,;	uc002zet.1	c.446C>G	659/5989	4	4			c.446C>G						21	SNP	c.(445-447)ACG>AGG	17	17			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Broad	transient receptor potential cation channel,			45786659		0.617	ENSG00000142185	16336	g.chr21:45786659C>G		integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity							220.038864	KEEP	45	33	-1	77	66	45	33	-1	223.749158	77	66	0.349462	1	0	0	0	0	1	0	0	0	--	--		0	G			TRPM2_uc002zeu.1_Missense_Mutation_p.T149R|TRPM2_uc002zew.1_Missense_Mutation_p.T149R|TRPM2_uc010gpt.1_Missense_Mutation_p.T149R|TRPM2_uc002zex.1_5'Flank	226	GBM-28-5220-TP	p.T149R	C	TCCCAGGACACGCCCTCCAGC	NM_003307	NP_003298	45786659	O94759	TRPM2_HUMAN	0			5	659	+	G	G			Missense_Mutation	149			Cytoplasmic (Potential).			
TRPM2	0	broad.mit.edu	GRCh37	21	45786765	45786765	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1977-01	TCGA-32-1977-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300482.5:c.552G>A	p.Pro184=	p.P184=	ENST00000300482		184	ccG/ccA	0			1			A	P	uc002zet.1	protein_coding		CCDS13710.1			552/4512									ovary(1)|central_nervous_system(1)|pancreas(1)	3	c.(550-552)CCG>CCA			hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF2	transient receptor potential cation channel,				ENSP00000300482		May-33									COSM3405445	May-33	.		ENST00000300482	Transcript				integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	ENSG00000142185	g.chr21:45786765G>A	12339			LOW								--	--	1																																		TRPM2_uc002zeu.1_Silent_p.P184P|TRPM2_uc002zew.1_Silent_p.P184P|TRPM2_uc010gpt.1_Silent_p.P184P|TRPM2_uc002zex.1_5'Flank	1				p.P184P	NM_003307	NP_003298			1	TRPM2_HUMAN	TRPM2	HGNC	O94759	TRPM2_HUMAN			C9JZQ8_HUMAN		5	765	+			UPI0000169D60	184			Cytoplasmic (Potential).		SNV	TRPM2,synonymous_variant,p.=,ENST00000397928,NM_003307.3;TRPM2,synonymous_variant,p.=,ENST00000300482,;TRPM2,synonymous_variant,p.=,ENST00000300481,;TRPM2,synonymous_variant,p.=,ENST00000397932,;TRPM2,downstream_gene_variant,,ENST00000431901,;TRPM2,upstream_gene_variant,,ENST00000498430,;	uc002zet.1	c.552G>A	765/5989	2	2			c.552G>A						21	SNP	c.(550-552)CCG>CCA	39	39			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Broad	transient receptor potential cation channel,			45786765		0.637	ENSG00000142185	16336	g.chr21:45786765G>A		integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity							41.87802	KEEP	12	12	-1	40	38	12	12	-1	47.664091	40	38	0.22619	1	0	0	0	0	0	0	1	0	--	--		0	A			TRPM2_uc002zeu.1_Silent_p.P184P|TRPM2_uc002zew.1_Silent_p.P184P|TRPM2_uc010gpt.1_Silent_p.P184P|TRPM2_uc002zex.1_5'Flank	229	GBM-32-1977-TP	p.P184P	G	ACATGAAGCCGCGGCTGAAGA	NM_003307	NP_003298	45786765	O94759	TRPM2_HUMAN	0			5	765	+	A	A			Silent	184			Cytoplasmic (Potential).			
TRPM2	7226		GRCh37	21	45817635	45817635	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000397928.1:c.1938G>C	p.Gln646His	p.Q646H	ENST00000397928	NM_003307.3	646	caG/caC	0																																																																																																																																																																																																																																												
TRPM3	80036	broad.mit.edu	GRCh37	9	73230918	73230918	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0221-01	TCGA-06-0221-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377110.3:c.2396T>A	p.Met799Lys	p.M799K	ENST00000377110		799	aTg/aAg	0			1			T	M/K	uc004aid.2	protein_coding	YES	CCDS43835.1			2396/5124									ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9	c.(2395-2397)ATG>AAG			hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF7	transient receptor potential cation channel,				ENSP00000366314		17/25									COSM3413713,COSM3413714,COSM3413712,COSM3413715	17/25	.		ENST00000377110	Transcript				integral to membrane	calcium channel activity	ENSG00000083067	g.chr9:73230918A>T	17992			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=TRPM3_HUMAN&rb=640&re=839&var=M824K	NA	getma.org/?cm=var&var=hg19,9,73230918,A,T&fts=all	M824K	--	--	1																																		TRPM3_uc004ahu.2_Missense_Mutation_p.M629K|TRPM3_uc004ahv.2_Missense_Mutation_p.M601K|TRPM3_uc004ahw.2_Missense_Mutation_p.M671K|TRPM3_uc004ahx.2_Missense_Mutation_p.M658K|TRPM3_uc004ahy.2_Missense_Mutation_p.M661K|TRPM3_uc004ahz.2_Missense_Mutation_p.M648K|TRPM3_uc004aia.2_Missense_Mutation_p.M646K|TRPM3_uc004aib.2_Missense_Mutation_p.M636K|TRPM3_uc004aic.2_Missense_Mutation_p.M799K	1,1,1,1	1		benign(0.344)	p.M799K	NM_001007471	NP_001007472		deleterious(0.01)	1,1,1,1	TRPM3_HUMAN	TRPM3	HGNC	Q9HCF6	TRPM3_HUMAN					17	2640	-			UPI0001596895	824			Extracellular (Potential).		SNV	TRPM3,missense_variant,p.Met799Lys,ENST00000377110,;TRPM3,missense_variant,p.Met671Lys,ENST00000377106,NM_020952.4,NM_206946.3;TRPM3,missense_variant,p.Met661Lys,ENST00000360823,NM_206944.3,NM_206947.3;TRPM3,missense_variant,p.Met658Lys,ENST00000377105,NM_206945.3,NM_024971.5;TRPM3,missense_variant,p.Met826Lys,ENST00000423814,;TRPM3,missense_variant,p.Met803Lys,ENST00000357533,;TRPM3,missense_variant,p.Met671Lys,ENST00000396292,;TRPM3,missense_variant,p.Met661Lys,ENST00000358082,;TRPM3,missense_variant,p.Met646Lys,ENST00000396285,;TRPM3,missense_variant,p.Met658Lys,ENST00000408909,;TRPM3,missense_variant,p.Met648Lys,ENST00000396280,;TRPM3,missense_variant,p.Met799Lys,ENST00000377111,NM_001007471.2;	uc004aid.2	c.2396T>A	2640/12258	1	1			c.2396T>A						9	SNP	c.(2395-2397)ATG>AAG	8	8			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9	Broad	transient receptor potential cation channel,			73230918		0.413	ENSG00000083067	16337	g.chr9:73230918A>T		integral to membrane	calcium channel activity							2.92514	KEEP	1	7	-1	65	34	1	7	-1	19.863271	65	34	0.083333	1	0	0	0	0	1	0	0	0	--	--		0	T			TRPM3_uc004ahu.2_Missense_Mutation_p.M629K|TRPM3_uc004ahv.2_Missense_Mutation_p.M601K|TRPM3_uc004ahw.2_Missense_Mutation_p.M671K|TRPM3_uc004ahx.2_Missense_Mutation_p.M658K|TRPM3_uc004ahy.2_Missense_Mutation_p.M661K|TRPM3_uc004ahz.2_Missense_Mutation_p.M648K|TRPM3_uc004aia.2_Missense_Mutation_p.M646K|TRPM3_uc004aib.2_Missense_Mutation_p.M636K|TRPM3_uc004aic.2_Missense_Mutation_p.M799K	53	GBM-06-0221-TP	p.M799K	A	GGCCTGAGACATATAGGGCAT	NM_001007471	NP_001007472	73230918	Q9HCF6	TRPM3_HUMAN	0			17	2640	-	T	T			Missense_Mutation	824			Extracellular (Potential).			
TRPM3	0	broad.mit.edu	GRCh37	9	73399100	73399100	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs141951214	byFrequency	TCGA-12-0688-01	TCGA-12-0688-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377110.3:c.1069G>A	p.Val357Met	p.V357M	ENST00000377110		357	Gtg/Atg	0	T:0.0011	T:0.0008	1	T:0		T	V/M	uc004aid.2	protein_coding	YES	CCDS43835.1			1069/5124									ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9	c.(1069-1071)GTG>ATG			hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF7	transient receptor potential cation channel,		T:0	T:0	ENSP00000366314	T:0	25-Jul	0.000115	0.00048				0.000135			rs141951214,COSM2153956,COSM2153957,COSM2153955,COSM2153958	25-Jul	common_variant		ENST00000377110	Transcript		T:0.0002		integral to membrane	calcium channel activity	ENSG00000083067	g.chr9:73399100C>T	17992			MODERATE		2.685	medium	getma.org/?cm=msa&ty=f&p=TRPM3_HUMAN&rb=240&re=439&var=V382M	NA	getma.org/?cm=var&var=hg19,9,73399100,C,T&fts=all	V382M	--	--	1																																		TRPM3_uc004ahu.2_Missense_Mutation_p.V187M|TRPM3_uc004ahv.2_Missense_Mutation_p.V187M|TRPM3_uc004ahw.2_Missense_Mutation_p.V229M|TRPM3_uc004ahx.2_Missense_Mutation_p.V204M|TRPM3_uc004ahy.2_Missense_Mutation_p.V229M|TRPM3_uc004ahz.2_Missense_Mutation_p.V204M|TRPM3_uc004aia.2_Missense_Mutation_p.V204M|TRPM3_uc004aib.2_Missense_Mutation_p.V204M|TRPM3_uc004aic.2_Missense_Mutation_p.V357M|TRPM3_uc010mor.2_Missense_Mutation_p.V357M|TRPM3_uc004aie.2_Missense_Mutation_p.V204M|TRPM3_uc004aif.2_Missense_Mutation_p.V229M|TRPM3_uc004aig.2_Missense_Mutation_p.V204M	0,1,1,1,1	1		possibly_damaging(0.903)	p.V357M	NM_001007471	NP_001007472	T:0	deleterious(0)	0,1,1,1,1	TRPM3_HUMAN	TRPM3	HGNC	Q9HCF6	TRPM3_HUMAN					7	1313	-			UPI0001596895	382			Cytoplasmic (Potential).		SNV	TRPM3,missense_variant,p.Val357Met,ENST00000377110,;TRPM3,missense_variant,p.Val229Met,ENST00000377106,NM_020952.4,NM_206946.3;TRPM3,missense_variant,p.Val229Met,ENST00000360823,NM_206944.3,NM_206947.3;TRPM3,missense_variant,p.Val204Met,ENST00000377105,NM_206945.3,NM_024971.5;TRPM3,missense_variant,p.Val384Met,ENST00000423814,;TRPM3,missense_variant,p.Val359Met,ENST00000357533,;TRPM3,missense_variant,p.Val229Met,ENST00000396292,;TRPM3,missense_variant,p.Val229Met,ENST00000358082,;TRPM3,missense_variant,p.Val204Met,ENST00000408909,;TRPM3,missense_variant,p.Val204Met,ENST00000396285,;TRPM3,missense_variant,p.Val204Met,ENST00000396280,;TRPM3,missense_variant,p.Val357Met,ENST00000377111,NM_001007471.2;TRPM3,missense_variant,p.Val229Met,ENST00000396283,;TRPM3,missense_variant,p.Val204Met,ENST00000377101,;TRPM3,missense_variant,p.Val204Met,ENST00000361823,NM_206948.2,NM_001007470.1;	uc004aid.2	c.1069G>A	1313/12258	1	1			c.1069G>A						9	SNP	c.(1069-1071)GTG>ATG	13	13			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9	Broad	transient receptor potential cation channel,			73399100		0.547	ENSG00000083067	16337	g.chr9:73399100C>T		integral to membrane	calcium channel activity							63.068236	KEEP	12	14	-1	36	40	12	14	-1	67.323825	36	40	0.269663	1	0	0	0	0	1	0	0	0	--	--		0	T			TRPM3_uc004ahu.2_Missense_Mutation_p.V187M|TRPM3_uc004ahv.2_Missense_Mutation_p.V187M|TRPM3_uc004ahw.2_Missense_Mutation_p.V229M|TRPM3_uc004ahx.2_Missense_Mutation_p.V204M|TRPM3_uc004ahy.2_Missense_Mutation_p.V229M|TRPM3_uc004ahz.2_Missense_Mutation_p.V204M|TRPM3_uc004aia.2_Missense_Mutation_p.V204M|TRPM3_uc004aib.2_Missense_Mutation_p.V204M|TRPM3_uc004aic.2_Missense_Mutation_p.V357M|TRPM3_uc010mor.2_Missense_Mutation_p.V357M|TRPM3_uc004aie.2_Missense_Mutation_p.V204M|TRPM3_uc004aif.2_Missense_Mutation_p.V229M|TRPM3_uc004aig.2_Missense_Mutation_p.V204M	121	GBM-12-0688-TP	p.V357M	C	ACCACTGGCACGGGAGGGGTG	NM_001007471	NP_001007472	73399100	Q9HCF6	TRPM3_HUMAN	0			7	1313	-	T	T			Missense_Mutation	382			Cytoplasmic (Potential).			
TRPM3	0	broad.mit.edu	GRCh37	9	73167906	73167906	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01	TCGA-19-2623-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377110.3:c.3392G>A	p.Arg1131Lys	p.R1131K	ENST00000377110		1131	aGg/aAg	0			1			T	R/K	uc004aid.2	protein_coding	YES	CCDS43835.1			3392/5124									ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9	c.(3391-3393)AGG>AAG			hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF7	transient receptor potential cation channel,				ENSP00000366314		23/25									COSM3413705,COSM3413706,COSM3413704,COSM3413707	23/25	.		ENST00000377110	Transcript				integral to membrane	calcium channel activity	ENSG00000083067	g.chr9:73167906C>T	17992			MODERATE		2.92	medium	getma.org/?cm=msa&ty=f&p=TRPM3_HUMAN&rb=1138&re=1337&var=R1156K	NA	getma.org/?cm=var&var=hg19,9,73167906,C,T&fts=all	R1156K	--	--	1																																		TRPM3_uc004ahu.2_Missense_Mutation_p.R973K|TRPM3_uc004ahv.2_Missense_Mutation_p.R933K|TRPM3_uc004ahw.2_Missense_Mutation_p.R1003K|TRPM3_uc004ahx.2_Missense_Mutation_p.R990K|TRPM3_uc004ahy.2_Missense_Mutation_p.R993K|TRPM3_uc004ahz.2_Missense_Mutation_p.R980K|TRPM3_uc004aia.2_Missense_Mutation_p.R978K|TRPM3_uc004aib.2_Missense_Mutation_p.R968K|TRPM3_uc004aic.2_Missense_Mutation_p.R1131K	1,1,1,1	1		probably_damaging(0.99)	p.R1131K	NM_001007471	NP_001007472		deleterious(0)	1,1,1,1	TRPM3_HUMAN	TRPM3	HGNC	Q9HCF6	TRPM3_HUMAN					23	3636	-			UPI0001596895	1156			Cytoplasmic (Potential).		SNV	TRPM3,missense_variant,p.Arg1131Lys,ENST00000377110,;TRPM3,missense_variant,p.Arg1003Lys,ENST00000377106,NM_020952.4,NM_206946.3;TRPM3,missense_variant,p.Arg993Lys,ENST00000360823,NM_206944.3,NM_206947.3;TRPM3,missense_variant,p.Arg990Lys,ENST00000377105,NM_206945.3,NM_024971.5;TRPM3,missense_variant,p.Arg1158Lys,ENST00000423814,;TRPM3,missense_variant,p.Arg1135Lys,ENST00000357533,;TRPM3,missense_variant,p.Arg1003Lys,ENST00000396292,;TRPM3,missense_variant,p.Arg993Lys,ENST00000358082,;TRPM3,missense_variant,p.Arg990Lys,ENST00000396285,;TRPM3,missense_variant,p.Arg990Lys,ENST00000408909,;TRPM3,missense_variant,p.Arg980Lys,ENST00000396280,;TRPM3,missense_variant,p.Arg1131Lys,ENST00000377111,NM_001007471.2;	uc004aid.2	c.3392G>A	3636/12258	1	1			c.3392G>A						9	SNP	c.(3391-3393)AGG>AAG	3	3			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9	Broad	transient receptor potential cation channel,			73167906		0.423	ENSG00000083067	16337	g.chr9:73167906C>T		integral to membrane	calcium channel activity							86.016279	KEEP	19	31	-1	139	134	19	31	-1	121.849698	139	134	0.14527	1	0	0	0	0	1	0	0	0	--	--		0	T			TRPM3_uc004ahu.2_Missense_Mutation_p.R973K|TRPM3_uc004ahv.2_Missense_Mutation_p.R933K|TRPM3_uc004ahw.2_Missense_Mutation_p.R1003K|TRPM3_uc004ahx.2_Missense_Mutation_p.R990K|TRPM3_uc004ahy.2_Missense_Mutation_p.R993K|TRPM3_uc004ahz.2_Missense_Mutation_p.R980K|TRPM3_uc004aia.2_Missense_Mutation_p.R978K|TRPM3_uc004aib.2_Missense_Mutation_p.R968K|TRPM3_uc004aic.2_Missense_Mutation_p.R1131K	163	GBM-19-2623-TP	p.R1131K	C	GAGCTGATACCTCTGAAACTT	NM_001007471	NP_001007472	73167906	Q9HCF6	TRPM3_HUMAN	0			23	3636	-	T	T			Missense_Mutation	1156			Cytoplasmic (Potential).			
TRPM4	54795	broad.mit.edu	GRCh37	19	49705399	49705400	+	splice_donor_variant	Splice_Site	INS	-	-	T			TCGA-06-0169-01	TCGA-06-0169-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252826.5:c.3131+2dup		p.X1044_splice	ENST00000252826	NM_017636.3	1044		0			1			T		uc002pmw.2	protein_coding	YES	CCDS33073.1			3131/3645									ovary(1)|central_nervous_system(1)	2	c.e20+1				transient receptor potential cation channel,				ENSP00000252826													.		ENST00000252826	Transcript	1		dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	ENSG00000130529	g.chr19:49705399_49705400insT	17993	1		HIGH	20/24							--	--	1																																		TRPM4_uc010emu.2_Splice_Site_p.S899_splice|TRPM4_uc010yak.1_Splice_Site_p.S508_splice|TRPM4_uc002pmx.2_Splice_Site_p.S870_splice|TRPM4_uc010emv.2_Splice_Site_p.S929_splice|TRPM4_uc010yal.1_Splice_Site_p.S690_splice|TRPM4_uc002pmy.2_Splice_Site_p.S386_splice		1			p.S1044_splice	NM_017636	NP_060106				TRPM4_HUMAN	TRPM4	HGNC	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)			20	3203	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	UPI0000070598						insertion	TRPM4,splice_donor_variant,,ENST00000252826,NM_017636.3;TRPM4,splice_donor_variant,,ENST00000427978,NM_001195227.1;TRPM4,splice_donor_variant,,ENST00000355712,;TRPM4,splice_donor_variant,,ENST00000596338,;TRPM4,splice_donor_variant,,ENST00000595519,;TRPM4,splice_donor_variant,,ENST00000598502,;TRPM4,splice_donor_variant,,ENST00000598697,;TRPM4,splice_donor_variant,,ENST00000595071,;	uc002pmw.2	c.3131_splice	-/4109	5	5			c.3131_splice						19	INS	c.e20+1	59	59			ovary(1)|central_nervous_system(1)	2	Broad	transient receptor potential cation channel,			49705400		0.55	ENSG00000130529	16338	g.chr19:49705399_49705400insT	dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding																				0.27	1	0	0	1	1	0	0	0	1	--	--		0	T			TRPM4_uc010emu.2_Splice_Site_p.S899_splice|TRPM4_uc010yak.1_Splice_Site_p.S508_splice|TRPM4_uc002pmx.2_Splice_Site_p.S870_splice|TRPM4_uc010emv.2_Splice_Site_p.S929_splice|TRPM4_uc010yal.1_Splice_Site_p.S690_splice|TRPM4_uc002pmy.2_Splice_Site_p.S386_splice	34	GBM-06-0169-TP	p.S1044_splice	-	CCATGTTCAGGTGAGGCCTGAC	NM_017636	NP_060106	49705399	Q8TD43	TRPM4_HUMAN	0		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	20	3203	+	T	T		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	Splice_Site							
TRPM4	54795	broad.mit.edu	GRCh37	19	49686170	49686170	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-1804-01	TCGA-06-1804-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252826.5:c.1599C>T	p.Phe533=	p.F533=	ENST00000252826	NM_017636.3	533	ttC/ttT	0			1			T	F	uc002pmw.2	protein_coding	YES	CCDS33073.1			1599/3645									ovary(1)|central_nervous_system(1)	2	c.(1597-1599)TTC>TTT			hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF6	transient receptor potential cation channel,				ENSP00000252826		25-Nov									COSM3404445	25-Nov	.		ENST00000252826	Transcript	1		dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	ENSG00000130529	g.chr19:49686170C>T	17993			LOW								--	--	1																																		TRPM4_uc010emu.2_Silent_p.F533F|TRPM4_uc010yak.1_Intron|TRPM4_uc002pmx.2_Silent_p.F359F|TRPM4_uc010emv.2_Silent_p.F418F|TRPM4_uc010yal.1_Silent_p.F179F|TRPM4_uc002pmy.2_5'UTR	1	1			p.F533F	NM_017636	NP_060106			1	TRPM4_HUMAN	TRPM4	HGNC	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)			11	1671	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	UPI0000070598	533			Cytoplasmic (Potential).		SNV	TRPM4,synonymous_variant,p.=,ENST00000252826,NM_017636.3;TRPM4,synonymous_variant,p.=,ENST00000427978,NM_001195227.1;TRPM4,synonymous_variant,p.=,ENST00000355712,;TRPM4,downstream_gene_variant,,ENST00000601347,;TRPM4,3_prime_UTR_variant,,ENST00000595519,;TRPM4,3_prime_UTR_variant,,ENST00000598697,;TRPM4,non_coding_transcript_exon_variant,,ENST00000596338,;TRPM4,non_coding_transcript_exon_variant,,ENST00000595071,;TRPM4,intron_variant,,ENST00000598502,;	uc002pmw.2	c.1599C>T	1725/4109	2	2			c.1599C>T						19	SNP	c.(1597-1599)TTC>TTT	21	21			ovary(1)|central_nervous_system(1)	2	Broad	transient receptor potential cation channel,			49686170		0.711	ENSG00000130529	16338	g.chr19:49686170C>T	dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding							13.039489	KEEP	5	1	-1	11	14	5	1	-1	15.344442	11	14	0.206897	1	0	0	0	0	0	0	1	0	--	--		0	T			TRPM4_uc010emu.2_Silent_p.F533F|TRPM4_uc010yak.1_Intron|TRPM4_uc002pmx.2_Silent_p.F359F|TRPM4_uc010emv.2_Silent_p.F418F|TRPM4_uc010yal.1_Silent_p.F179F|TRPM4_uc002pmy.2_5'UTR	79	GBM-06-1804-TP	p.F533F	C	GCCAGGGCTTCGGGGAGAGCG	NM_017636	NP_060106	49686170	Q8TD43	TRPM4_HUMAN	0		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	11	1671	+	T	T		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	Silent	533			Cytoplasmic (Potential).			
TRPM4	54795	broad.mit.edu	GRCh37	19	49671909	49671910	+	inframe_insertion	In_Frame_Ins	INS	-	-	GCA			TCGA-06-2557-01	TCGA-06-2557-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252826.5:c.713_715dup	p.Gly238_Thr239insSer	p.G238_T239insS	ENST00000252826	NM_017636.3	238	ggc/gGCAgc	0			1			GCA	G/GS	uc002pmw.2	protein_coding	YES	CCDS33073.1			712-713/3645									ovary(1)|central_nervous_system(1)	2	c.(712-714)GGC>GGCAGC			hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF6	transient receptor potential cation channel,				ENSP00000252826		25-Jun										25-Jun	.		ENST00000252826	Transcript	1		dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	ENSG00000130529	g.chr19:49671909_49671910insGCA	17993	3		MODERATE								--	--	1																																		TRPM4_uc010emu.2_In_Frame_Ins_p.238_239insS|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_In_Frame_Ins_p.64_65insS|TRPM4_uc010emv.2_In_Frame_Ins_p.123_124insS|TRPM4_uc010yal.1_5'UTR		1			p.238_239insS	NM_017636	NP_060106				TRPM4_HUMAN	TRPM4	HGNC	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)			6	784_785	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	UPI0000070598	238_239			Cytoplasmic (Potential).		insertion	TRPM4,inframe_insertion,p.Gly238_Thr239insSer,ENST00000252826,NM_017636.3;TRPM4,inframe_insertion,p.Gly238_Thr239insSer,ENST00000427978,NM_001195227.1;TRPM4,inframe_insertion,p.Gly123_Thr124insSer,ENST00000598691,;TRPM4,5_prime_UTR_variant,,ENST00000355712,;TRPM4,non_coding_transcript_exon_variant,,ENST00000601347,;TRPM4,inframe_insertion,p.Ala178dup,ENST00000598502,;TRPM4,inframe_insertion,p.Ala65dup,ENST00000598697,;TRPM4,3_prime_UTR_variant,,ENST00000595519,;TRPM4,non_coding_transcript_exon_variant,,ENST00000596338,;TRPM4,downstream_gene_variant,,ENST00000594568,;	uc002pmw.2	c.712_713insGCA	838-839/4109	5	5			c.712_713insGCA						19	INS	c.(712-714)GGC>GGCAGC	49	49			ovary(1)|central_nervous_system(1)	2	Broad	transient receptor potential cation channel,			49671910		0.658	ENSG00000130529	16338	g.chr19:49671909_49671910insGCA	dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding																				0.32	1	0	0	1	1	0	0	0	0	--	--		0	GCA			TRPM4_uc010emu.2_In_Frame_Ins_p.238_239insS|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_In_Frame_Ins_p.64_65insS|TRPM4_uc010emv.2_In_Frame_Ins_p.123_124insS|TRPM4_uc010yal.1_5'UTR	81	GBM-06-2557-TP	p.238_239insS	-	GGTGGACGACGGCACACACGGC	NM_017636	NP_060106	49671909	Q8TD43	TRPM4_HUMAN	0		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	6	784_785	+	GCA	GCA		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	In_Frame_Ins	238_239			Cytoplasmic (Potential).			
TRPM5	0	broad.mit.edu	GRCh37	11	2434731	2434731	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs149949624	byFrequency	TCGA-26-1442-01	TCGA-26-1442-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000155858.6:c.1978G>A	p.Val660Ile	p.V660I	ENST00000155858	NM_014555.3	660	Gtc/Atc	0	T:0.0005		1			T	V/I	uc001lwm.3	protein_coding	YES	CCDS31340.1			1978/3498									ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	c.(1978-1980)GTC>ATC			hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF5	transient receptor potential cation channel,			T:0.0003	ENSP00000155858		13/24	8.26E-05	0.000107			0.000189	0.00013			rs149949624,COSM2156903	13/24	.		ENST00000155858	Transcript				integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	ENSG00000070985	g.chr11:2434731C>T	14323			MODERATE		-1.245	neutral	getma.org/?cm=msa&ty=f&p=TRPM5_HUMAN&rb=601&re=800&var=V660I	NA	getma.org/?cm=var&var=hg19,11,2434731,C,T&fts=all	V660I	--	--	1																																		TRPM5_uc010qxl.1_Missense_Mutation_p.V660I|TRPM5_uc009ydn.2_Missense_Mutation_p.V662I	0,1	1		benign(0.002)	p.V660I	NM_014555	NP_055370		tolerated(1)	0,1	TRPM5_HUMAN	TRPM5	HGNC	Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)			13	1987	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	UPI000003B069	660			Helical; (Potential).		SNV	TRPM5,missense_variant,p.Val662Ile,ENST00000452833,;TRPM5,missense_variant,p.Val660Ile,ENST00000155858,NM_014555.3;TRPM5,missense_variant,p.Val654Ile,ENST00000533881,;TRPM5,missense_variant,p.Val660Ile,ENST00000533060,;TRPM5,missense_variant,p.Val660Ile,ENST00000528453,;	uc001lwm.3	c.1978G>A	1987/3929	2	2			c.1978G>A						11	SNP	c.(1978-1980)GTC>ATC	25	25			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Broad	transient receptor potential cation channel,			2434731		0.677	ENSG00000070985	16339	g.chr11:2434731C>T		integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	NSCLC(1;49 61 17205 18850 43201)			NSCLC(1;49 61 17205 18850 43201)			25.671934	KEEP	3	6	-1	7	12	3	6	-1	25.909155	7	12	0.391304	1	0	0	0	0	1	0	0	0	--	--		0	T			TRPM5_uc010qxl.1_Missense_Mutation_p.V660I|TRPM5_uc009ydn.2_Missense_Mutation_p.V662I	180	GBM-26-1442-TP	p.V660I	C	TTGGTATAGACGAGGGCGGGG	NM_014555	NP_055370	2434731	Q9NZQ8	TRPM5_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	13	1987	-	T	T		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	Missense_Mutation	660			Helical; (Potential).			
TRPM6	140803	broad.mit.edu	GRCh37	9	77377948	77377948	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0649-01	TCGA-06-0649-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360774.1:c.3639T>C	p.Asp1213=	p.D1213=	ENST00000360774	NM_017662.4	1213	gaT/gaC	0			1			G	D	uc004ajl.1	protein_coding	YES	CCDS6647.1			3639/6069									lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8	c.(3637-3639)GAT>GAC			hmmpanther:PTHR13800:SF15,hmmpanther:PTHR13800,Gene3D:3e7kA00	transient receptor potential cation channel,				ENSP00000354006		26/39									COSM2151431,COSM3413725,COSM2151430	26/39	.		ENST00000360774	Transcript	1		response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	ENSG00000119121	g.chr9:77377948A>G	17995			LOW								--	--	1																																		TRPM6_uc004ajk.1_Silent_p.D1208D|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Silent_p.D169D	1,1,1	1			p.D1213D	NM_017662	NP_060132			1,1,1	TRPM6_HUMAN	TRPM6	HGNC	Q9BX84	TRPM6_HUMAN					26	3877	-			UPI000006E041	1213			Cytoplasmic (Potential).		SNV	TRPM6,synonymous_variant,p.=,ENST00000451710,;TRPM6,synonymous_variant,p.=,ENST00000360774,NM_017662.4;TRPM6,synonymous_variant,p.=,ENST00000361255,NM_001177311.1;TRPM6,synonymous_variant,p.=,ENST00000449912,NM_001177310.1;TRPM6,synonymous_variant,p.=,ENST00000376864,;TRPM6,intron_variant,,ENST00000376872,;TRPM6,intron_variant,,ENST00000376871,;	uc004ajl.1	c.3639T>C	3877/8425	3	3			c.3639T>C						9	SNP	c.(3637-3639)GAT>GAC	2	2			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8	Broad	transient receptor potential cation channel,			77377948		0.463	ENSG00000119121	16340	g.chr9:77377948A>G	response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			879			879	79.723344	KEEP	20	13	-1	65	59	20	13	-1	90.248103	65	59	0.216783	1	0	0	0	0	0	0	1	0	--	--		0	G			TRPM6_uc004ajk.1_Silent_p.D1208D|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Silent_p.D169D	62	GBM-06-0649-TP	p.D1213D	A	GGGCAGAGAGATCCTGCAGGT	NM_017662	NP_060132	77377948	Q9BX84	TRPM6_HUMAN	0			26	3877	-	G	G			Silent	1213			Cytoplasmic (Potential).			
TRPM6	0	broad.mit.edu	GRCh37	9	77423011	77423011	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01	TCGA-28-5208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360774.1:c.1577G>A	p.Arg526His	p.R526H	ENST00000360774	NM_017662.4	526	cGc/cAc	0			1			T	R/H	uc004ajl.1	protein_coding	YES	CCDS6647.1			1577/6069									lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8	c.(1576-1578)CGC>CAC			hmmpanther:PTHR13800:SF15,hmmpanther:PTHR13800	transient receptor potential cation channel,				ENSP00000354006		14/39									COSM3413728,COSM3413726,COSM3413727	14/39	.		ENST00000360774	Transcript	1		response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	ENSG00000119121	g.chr9:77423011C>T	17995			MODERATE		2.23	medium	getma.org/?cm=msa&ty=f&p=TRPM6_HUMAN&rb=401&re=600&var=R526H	NA	getma.org/?cm=var&var=hg19,9,77423011,C,T&fts=all	R526H	--	--	1																																		TRPM6_uc004ajk.1_Missense_Mutation_p.R521H|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.R526H|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	1,1,1	1		possibly_damaging(0.902)	p.R526H	NM_017662	NP_060132		deleterious(0.01)	1,1,1	TRPM6_HUMAN	TRPM6	HGNC	Q9BX84	TRPM6_HUMAN					14	1815	-			UPI000006E041	526			Cytoplasmic (Potential).		SNV	TRPM6,missense_variant,p.Arg526His,ENST00000451710,;TRPM6,missense_variant,p.Arg526His,ENST00000360774,NM_017662.4;TRPM6,missense_variant,p.Arg521His,ENST00000361255,NM_001177311.1;TRPM6,missense_variant,p.Arg521His,ENST00000449912,NM_001177310.1;TRPM6,missense_variant,p.Arg526His,ENST00000376864,;TRPM6,missense_variant,p.Arg526His,ENST00000376872,;TRPM6,intron_variant,,ENST00000376871,;RP11-174B4.2,downstream_gene_variant,,ENST00000605848,;	uc004ajl.1	c.1577G>A	1815/8425	2	2			c.1577G>A						9	SNP	c.(1576-1578)CGC>CAC	25	25			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8	Broad	transient receptor potential cation channel,			77423011		0.388	ENSG00000119121	16340	g.chr9:77423011C>T	response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			879			879	291.739223	KEEP	53	58	-1	99	100	53	58	-1	297.383117	99	100	0.352542	1	0	0	0	0	1	0	0	0	--	--		0	T			TRPM6_uc004ajk.1_Missense_Mutation_p.R521H|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.R526H|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	217	GBM-28-5208-TP	p.R526H	C	GTAGTTGCTGCGATATGCTCT	NM_017662	NP_060132	77423011	Q9BX84	TRPM6_HUMAN	0			14	1815	-	T	T			Missense_Mutation	526			Cytoplasmic (Potential).			
TRPM7	0	broad.mit.edu	GRCh37	15	50935595	50935595	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-28-5216-01	TCGA-28-5216-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313478.7:c.477T>C	p.Gly159=	p.G159=	ENST00000313478	NM_017672.4	159	ggT/ggC	0			1			G	G	uc001zyt.3	protein_coding	YES	CCDS42035.1			477/5598									ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10	c.(475-477)GGT>GGC			hmmpanther:PTHR13800:SF8,hmmpanther:PTHR13800	transient receptor potential cation channel,				ENSP00000320239		May-39									COSM3401809	May-39	.		ENST00000313478	Transcript	1		cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	ENSG00000092439	g.chr15:50935595A>G	17994			LOW								--	--	1																																		TRPM7_uc010bew.1_Silent_p.G159G	1	1			p.G159G	NM_017672	NP_060142			1	TRPM7_HUMAN	TRPM7	HGNC	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)			5	741	-			UPI0000071CBA	159			Cytoplasmic (Potential).		SNV	TRPM7,synonymous_variant,p.=,ENST00000313478,NM_017672.4;TRPM7,synonymous_variant,p.=,ENST00000560955,;	uc001zyt.3	c.477T>C	759/7263	3	3			c.477T>C						15	SNP	c.(475-477)GGT>GGC	5	5			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10	Broad	transient receptor potential cation channel,			50935595		0.383	ENSG00000092439	16341	g.chr15:50935595A>G	cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			1796			1796	-63.155487	KEEP	2	5	-1	145	160	2	5	-1	6.870989	145	160	0.018657	1	0	0	0	0	0	0	1	0	--	--		0	G			TRPM7_uc010bew.1_Silent_p.G159G	223	GBM-28-5216-TP	p.G159G	A	CTTTAATAAGACCTTTTCCAA	NM_017672	NP_060142	50935595	Q96QT4	TRPM7_HUMAN	0		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	5	741	-	G	G			Silent	159			Cytoplasmic (Potential).			
TRPM8	79054	broad.mit.edu	GRCh37	2	234869620	234869620	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-0192-01	TCGA-06-0192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324695.4:c.1563C>A	p.Leu521=	p.L521=	ENST00000324695	NM_024080.4	521	ctC/ctA	0			1			A	L	uc002vvh.2	protein_coding	YES	CCDS33407.1			1563/3315									skin(4)	4	c.(1561-1563)CTC>CTA			hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF9	transient receptor potential cation channel,	Menthol(DB00825)			ENSP00000323926		26-Dec									COSM2150654	26-Dec	.		ENST00000324695	Transcript				integral to membrane		ENSG00000144481	g.chr2:234869620C>A	17961			LOW								--	--	1																																		TRPM8_uc010fyj.2_Silent_p.L209L	1	1			p.L521L	NM_024080	NP_076985			1	TRPM8_HUMAN	TRPM8	HGNC	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)			12	1603	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	UPI0000456F32	521			Cytoplasmic (Potential).		SNV	TRPM8,synonymous_variant,p.=,ENST00000324695,NM_024080.4;TRPM8,synonymous_variant,p.=,ENST00000433712,;TRPM8,3_prime_UTR_variant,,ENST00000444298,;TRPM8,downstream_gene_variant,,ENST00000487033,;	uc002vvh.2	c.1563C>A	1603/5621	2	2			c.1563C>A						2	SNP	c.(1561-1563)CTC>CTA	20	20			skin(4)	4	Broad	transient receptor potential cation channel,		Menthol(DB00825)	234869620		0.507	ENSG00000144481	16342	g.chr2:234869620C>A		integral to membrane				505			505	100.462294	KEEP	17	20	0.540540541	38	38	17	20	0.540540541	102.875086	38	38	0.339623	1	0	0	0	0	0	0	1	0	--	--		0	A			TRPM8_uc010fyj.2_Silent_p.L209L	44	GBM-06-0192-TP	p.L521L	C	ATGCCCTCCTCACGTTTGTCT	NM_024080	NP_076985	234869620	Q7Z2W7	TRPM8_HUMAN	0		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	12	1603	+	A	A		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	Silent	521			Cytoplasmic (Potential).			
TRPM8	79054	broad.mit.edu	GRCh37	2	234869493	234869493	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0649-01	TCGA-06-0649-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324695.4:c.1436A>G	p.Glu479Gly	p.E479G	ENST00000324695	NM_024080.4	479	gAg/gGg	0			1			G	E/G	uc002vvh.2	protein_coding	YES	CCDS33407.1			1436/3315									skin(4)	4	c.(1435-1437)GAG>GGG			hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF9	transient receptor potential cation channel,	Menthol(DB00825)			ENSP00000323926		26-Dec									COSM3407705	26-Dec	.		ENST00000324695	Transcript				integral to membrane		ENSG00000144481	g.chr2:234869493A>G	17961			MODERATE		2.62	medium	getma.org/?cm=msa&ty=f&p=TRPM8_HUMAN&rb=401&re=600&var=E479G	NA	getma.org/?cm=var&var=hg19,2,234869493,A,G&fts=all	E479G	--	--	1																																		TRPM8_uc010fyj.2_Missense_Mutation_p.E167G	1	1		probably_damaging(0.997)	p.E479G	NM_024080	NP_076985		deleterious(0)	1	TRPM8_HUMAN	TRPM8	HGNC	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)			12	1476	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	UPI0000456F32	479			Cytoplasmic (Potential).		SNV	TRPM8,missense_variant,p.Glu479Gly,ENST00000324695,NM_024080.4;TRPM8,missense_variant,p.Glu167Gly,ENST00000433712,;TRPM8,3_prime_UTR_variant,,ENST00000444298,;TRPM8,non_coding_transcript_exon_variant,,ENST00000487033,;	uc002vvh.2	c.1436A>G	1476/5621	3	3			c.1436A>G						2	SNP	c.(1435-1437)GAG>GGG	60	60			skin(4)	4	Broad	transient receptor potential cation channel,		Menthol(DB00825)	234869493		0.483	ENSG00000144481	16342	g.chr2:234869493A>G		integral to membrane				505			505	-12.57694	KEEP	4	5	-1	77	64	4	5	-1	16.369725	77	64	0.051471	1	0	0	0	0	1	0	0	0	--	--		0	G			TRPM8_uc010fyj.2_Missense_Mutation_p.E167G	62	GBM-06-0649-TP	p.E479G	A	CTCTTTCTGGAGAATGGCTTG	NM_024080	NP_076985	234869493	Q7Z2W7	TRPM8_HUMAN	0		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	12	1476	+	G	G		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	Missense_Mutation	479			Cytoplasmic (Potential).			
TRPM8	0	broad.mit.edu	GRCh37	2	234891861	234891861	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-2623-01	TCGA-19-2623-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324695.4:c.2754C>T	p.Asp918=	p.D918=	ENST00000324695	NM_024080.4	918	gaC/gaT	0			1			T	D	uc002vvh.2	protein_coding	YES	CCDS33407.1			2754/3315									skin(4)	4	c.(2752-2754)GAC>GAT			Pfam_domain:PF00520,hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF9	transient receptor potential cation channel,	Menthol(DB00825)			ENSP00000323926		20/26	1.65E-05			0.000116		1.50E-05			rs759772183,COSM3407706	20/26	.		ENST00000324695	Transcript				integral to membrane		ENSG00000144481	g.chr2:234891861C>T	17961			LOW								--	--	1																																		TRPM8_uc010fyj.2_Silent_p.D496D|TRPM8_uc010fyk.2_RNA	0,1	1			p.D918D	NM_024080	NP_076985			0,1	TRPM8_HUMAN	TRPM8	HGNC	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)			20	2794	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	UPI0000456F32	918			Extracellular (Potential).		SNV	TRPM8,synonymous_variant,p.=,ENST00000324695,NM_024080.4;TRPM8,synonymous_variant,p.=,ENST00000433712,;TRPM8,synonymous_variant,p.=,ENST00000456930,;TRPM8,non_coding_transcript_exon_variant,,ENST00000475044,;TRPM8,synonymous_variant,p.=,ENST00000439148,;TRPM8,3_prime_UTR_variant,,ENST00000444298,;TRPM8,non_coding_transcript_exon_variant,,ENST00000477103,;	uc002vvh.2	c.2754C>T	2794/5621	2	2			c.2754C>T						2	SNP	c.(2752-2754)GAC>GAT	25	25			skin(4)	4	Broad	transient receptor potential cation channel,		Menthol(DB00825)	234891861		0.592	ENSG00000144481	16342	g.chr2:234891861C>T		integral to membrane				505			505	63.259028	KEEP	15	10	-1	34	52	15	10	-1	68.709585	34	52	0.25	1	0	0	0	0	0	0	1	0	--	--		0	T			TRPM8_uc010fyj.2_Silent_p.D496D|TRPM8_uc010fyk.2_RNA	163	GBM-19-2623-TP	p.D918D	C	TGCCCAGTGACGTGGATGGTA	NM_024080	NP_076985	234891861	Q7Z2W7	TRPM8_HUMAN	0		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	20	2794	+	T	T		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	Silent	918			Extracellular (Potential).			
TRPS1	7227	broad.mit.edu	GRCh37	8	116616647	116616647	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0174-01	TCGA-06-0174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395715.3:c.1549G>C	p.Gly517Arg	p.G517R	ENST00000395715	NM_014112.2	517	Ggg/Cgg	0			1			G	G/R	uc003ynz.2	protein_coding					1510/3846									ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	c.(1510-1512)GGG>CGG			hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF6	zinc finger transcription factor TRPS1				ENSP00000220888		6-Mar									COSM3412703,COSM3412702	6-Mar	.	Langer-Giedion_syndrome	ENST00000220888	Transcript	1		negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000104447	g.chr8:116616647C>G	12340			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=TRPS1_HUMAN&rb=407&re=606&var=G504R	NA	getma.org/?cm=var&var=hg19,8,116616647,C,G&fts=all	G504R	--	--	1																																		TRPS1_uc011lhy.1_Missense_Mutation_p.G508R|TRPS1_uc003yny.2_Missense_Mutation_p.G517R|TRPS1_uc010mcy.2_Missense_Mutation_p.G504R	1,1			benign(0.265)	p.G504R	NM_014112	NP_054831		tolerated_low_confidence(0.08)	1,1	TRPS1_HUMAN	TRPS1	HGNC	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)				3	1969	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		UPI0000137646	504					SNV	TRPS1,missense_variant,p.Gly517Arg,ENST00000395715,NM_014112.2,NM_001282903.1;TRPS1,missense_variant,p.Gly504Arg,ENST00000220888,;TRPS1,missense_variant,p.Gly508Arg,ENST00000520276,NM_001282902.1;TRPS1,missense_variant,p.Gly504Arg,ENST00000519674,;TRPS1,intron_variant,,ENST00000519076,;TRPS1,intron_variant,,ENST00000517323,;	uc003ynz.2	c.1510G>C	1670/5480	4	4			c.1510G>C						8	SNP	c.(1510-1512)GGG>CGG	25	25			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	Broad	zinc finger transcription factor TRPS1			116616647	Langer-Giedion_syndrome	0.438	ENSG00000104447	16343	g.chr8:116616647C>G	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			312			312	120.920375	KEEP	29	28	-1	93	106	29	28	-1	138.160686	93	106	0.209091	1	0	0	0	0	1	0	0	0	--	--		0	G			TRPS1_uc011lhy.1_Missense_Mutation_p.G508R|TRPS1_uc003yny.2_Missense_Mutation_p.G517R|TRPS1_uc010mcy.2_Missense_Mutation_p.G504R	37	GBM-06-0174-TP	p.G504R	C	TTTTTAGCCCCACTCGAGCTC	NM_014112	NP_054831	116616647	Q9UHF7	TRPS1_HUMAN	0	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		3	1969	-	G	G	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Missense_Mutation	504						
TRPS1	0	broad.mit.edu	GRCh37	8	116632180	116632180	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000220888.5:c.106G>A	p.Glu36Lys	p.E36K	ENST00000220888		36	Gaa/Aaa	0			1			T	E/K	uc003ynz.2	protein_coding					106/3846									ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	c.(106-108)GAA>AAA			hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF6	zinc finger transcription factor TRPS1				ENSP00000220888		6-Feb									COSM3412705,COSM3412704	6-Feb	.	Langer-Giedion_syndrome	ENST00000220888	Transcript	1		negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000104447	g.chr8:116632180C>T	12340			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=TRPS1_HUMAN&rb=1&re=206&var=E36K	NA	getma.org/?cm=var&var=hg19,8,116632180,C,T&fts=all	E36K	--	--	1																																		TRPS1_uc011lhy.1_Missense_Mutation_p.E40K|TRPS1_uc003yny.2_Missense_Mutation_p.E49K|TRPS1_uc010mcy.2_Missense_Mutation_p.E36K	1,1			benign(0.05)	p.E36K	NM_014112	NP_054831		deleterious_low_confidence(0)	1,1	TRPS1_HUMAN	TRPS1	HGNC	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)				2	565	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		UPI0000137646	36					SNV	TRPS1,missense_variant,p.Glu49Lys,ENST00000395715,NM_014112.2,NM_001282903.1;TRPS1,missense_variant,p.Glu36Lys,ENST00000220888,;TRPS1,missense_variant,p.Glu40Lys,ENST00000520276,NM_001282902.1;TRPS1,missense_variant,p.Glu36Lys,ENST00000519076,;TRPS1,missense_variant,p.Glu36Lys,ENST00000519674,;TRPS1,missense_variant,p.Glu40Lys,ENST00000517323,;TRPS1,missense_variant,p.Glu49Lys,ENST00000519815,;TRPS1,missense_variant,p.Glu49Lys,ENST00000422939,;TRPS1,missense_variant,p.Glu49Lys,ENST00000395713,;TRPS1,downstream_gene_variant,,ENST00000451156,;	uc003ynz.2	c.106G>A	266/5480	1	1			c.106G>A						8	SNP	c.(106-108)GAA>AAA	10	10			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	Broad	zinc finger transcription factor TRPS1			116632180	Langer-Giedion_syndrome	0.448	ENSG00000104447	16343	g.chr8:116632180C>T	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			312			312	-4.993105	KEEP	3	2	-1	35	49	3	2	-1	10.696442	35	49	0.063291	1	0	0	0	0	1	0	0	0	--	--		0	T			TRPS1_uc011lhy.1_Missense_Mutation_p.E40K|TRPS1_uc003yny.2_Missense_Mutation_p.E49K|TRPS1_uc010mcy.2_Missense_Mutation_p.E36K	160	GBM-19-1790-TP	p.E36K	C	GCAGAAAATTCTTTGTTCTTT	NM_014112	NP_054831	116632180	Q9UHF7	TRPS1_HUMAN	0	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		2	565	-	T	T	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Missense_Mutation	36						
TRPS1	0	broad.mit.edu	GRCh37	8	116599737	116599737	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000220888.5:c.2152delG	p.Glu718AsnfsTer33	p.E718Nfs*33	ENST00000220888		718	Gaa/aa	0			1			-	E/X	uc003ynz.2	protein_coding					2152/3846									ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	c.(2152-2154)GAAfs			PROSITE_profiles:PS50157,hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF6	zinc finger transcription factor TRPS1				ENSP00000220888		6-Apr									COSM2156080,COSM2156079	6-Apr	.	Langer-Giedion_syndrome	ENST00000220888	Transcript	1		negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000104447	g.chr8:116599737delC	12340			HIGH								--	--	1																																		TRPS1_uc011lhy.1_Frame_Shift_Del_p.E722fs|TRPS1_uc003yny.2_Frame_Shift_Del_p.E731fs|TRPS1_uc010mcy.2_Frame_Shift_Del_p.E718fs	1,1				p.E718fs	NM_014112	NP_054831			1,1	TRPS1_HUMAN	TRPS1	HGNC	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)				4	2611	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		UPI0000137646	718			Mediates interaction with GLI3.		deletion	TRPS1,frameshift_variant,p.Glu731AsnfsTer33,ENST00000395715,NM_014112.2,NM_001282903.1;TRPS1,frameshift_variant,p.Glu718AsnfsTer33,ENST00000220888,;TRPS1,frameshift_variant,p.Glu722AsnfsTer33,ENST00000520276,NM_001282902.1;TRPS1,frameshift_variant,p.Glu472AsnfsTer33,ENST00000519076,;TRPS1,frameshift_variant,p.Glu718AsnfsTer33,ENST00000519674,;TRPS1,frameshift_variant,p.Glu522AsnfsTer33,ENST00000517323,;	uc003ynz.2	c.2152delG	2312/5480	5	5			c.2152delG						8	DEL	c.(2152-2154)GAAfs	20	20			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	Broad	zinc finger transcription factor TRPS1			116599737	Langer-Giedion_syndrome	0.507	ENSG00000104447	16343	g.chr8:116599737delC	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			312			312														0.25	1	1	0	1	0	0	0	0	0	--	--		0	-			TRPS1_uc011lhy.1_Frame_Shift_Del_p.E722fs|TRPS1_uc003yny.2_Frame_Shift_Del_p.E731fs|TRPS1_uc010mcy.2_Frame_Shift_Del_p.E718fs	160	GBM-19-1790-TP	p.E718fs	C	ATGTCCTGTTCCTGGCAGTGA	NM_014112	NP_054831	116599737	Q9UHF7	TRPS1_HUMAN	0	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		4	2611	-	-	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Frame_Shift_Del	718			Mediates interaction with GLI3.			
TRPS1	0	broad.mit.edu	GRCh37	8	116426785	116426785	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs145393309		TCGA-28-2513-01	TCGA-28-2513-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000220888.5:c.3312C>A	p.Phe1104Leu	p.F1104L	ENST00000220888		1104	ttC/ttA	0			1			T	F/L	uc003ynz.2	protein_coding					3312/3846								p.F1104F(1)	ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	c.(3310-3312)TTC>TTA			hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF6	zinc finger transcription factor TRPS1				ENSP00000220888		6-Jun									COSM3412698,COSM3412697	6-Jun	.	Langer-Giedion_syndrome	ENST00000220888	Transcript	1		negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000104447	g.chr8:116426785G>T	12340			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TRPS1_HUMAN&rb=931&re=1130&var=F1104L	NA	getma.org/?cm=var&var=hg19,8,116426785,G,T&fts=all	F1104L	--	--	1																																		TRPS1_uc011lhy.1_Missense_Mutation_p.F1108L|TRPS1_uc003yny.2_Missense_Mutation_p.F1117L|TRPS1_uc010mcy.2_Missense_Mutation_p.F1104L	1,1			probably_damaging(0.977)	p.F1104L	NM_014112	NP_054831		tolerated(0.95)	1,1	TRPS1_HUMAN	TRPS1	HGNC	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)				6	3771	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		UPI0000137646	1104			Mediates interaction with RNF4 (By similarity).		SNV	TRPS1,missense_variant,p.Phe1117Leu,ENST00000395715,NM_014112.2,NM_001282903.1;TRPS1,missense_variant,p.Phe1104Leu,ENST00000220888,;TRPS1,missense_variant,p.Phe1108Leu,ENST00000520276,NM_001282902.1;TRPS1,missense_variant,p.Phe858Leu,ENST00000519076,;TRPS1,missense_variant,p.Phe229Leu,ENST00000518018,;	uc003ynz.2	c.3312C>A	3472/5480	1	1			c.3312C>A						8	SNP	c.(3310-3312)TTC>TTA	7	7		p.F1104F(1)	ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	Broad	zinc finger transcription factor TRPS1			116426785	Langer-Giedion_syndrome	0.473	ENSG00000104447	16343	g.chr8:116426785G>T	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			312			312	33.784301	KEEP	7	14	0.333333333	42	45	7	14	0.333333333	42.995238	42	45	0.183673	1	0	0	0	0	1	0	0	0	--	--		0	T			TRPS1_uc011lhy.1_Missense_Mutation_p.F1108L|TRPS1_uc003yny.2_Missense_Mutation_p.F1117L|TRPS1_uc010mcy.2_Missense_Mutation_p.F1104L	213	GBM-28-2513-TP	p.F1104L	G	CTTCACTCTGGAAGTCATTAT	NM_014112	NP_054831	116426785	Q9UHF7	TRPS1_HUMAN	0	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		6	3771	-	T	T	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Missense_Mutation	1104			Mediates interaction with RNF4 (By similarity).			
TRPV1	7442	broad.mit.edu	GRCh37	17	3486725	3486725	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G			TCGA-06-0939-01	TCGA-06-0939-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000571088.1:c.1384-1G>C		p.X462_splice	ENST00000571088	NM_018727.5	462		0			1			G		uc010vrr.1	protein_coding		CCDS45576.1			1384/2520									ovary(1)	1	c.e8-1				transient receptor potential cation channel,	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)			ENSP00000382659											COSM3402797,COSM3402798,COSM3402796		.		ENST00000399756	Transcript			cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding	ENSG00000196689	g.chr17:3486725C>G	12716			HIGH	14-Jul							--	--	1																																		TRPV1_uc010vro.1_Splice_Site_p.P473_splice|TRPV1_uc010vrp.1_Splice_Site_p.P402_splice|TRPV1_uc010vrq.1_Splice_Site_p.P460_splice|TRPV1_uc010vrs.1_Splice_Site_p.P462_splice|TRPV1_uc010vrt.1_Splice_Site_p.P462_splice|TRPV1_uc010vru.1_Splice_Site_p.P462_splice	1,1,1				p.P462_splice	NM_080706	NP_542437			1,1,1	TRPV1_HUMAN	TRPV1	HGNC	Q8NER1	TRPV1_HUMAN		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Q8IZY9_HUMAN		8	1911	-			UPI00005B2E0C						SNV	TRPV1,splice_acceptor_variant,,ENST00000174621,;SHPK,splice_acceptor_variant,,ENST00000572705,NM_080704.3;TRPV1,splice_acceptor_variant,,ENST00000571088,NM_018727.5;TRPV1,splice_acceptor_variant,,ENST00000399759,NM_080705.3;TRPV1,splice_acceptor_variant,,ENST00000399756,NM_080706.3;TRPV1,splice_acceptor_variant,,ENST00000425167,;TRPV1,splice_acceptor_variant,,ENST00000576351,;TRPV1,splice_acceptor_variant,,ENST00000310522,;RP11-235E17.3,upstream_gene_variant,,ENST00000573568,;TRPV1,splice_acceptor_variant,,ENST00000574085,;SHPK,downstream_gene_variant,,ENST00000572919,;	uc010vrr.1	c.1384_splice	-/4068	5	4			c.1384_splice						17	SNP	c.e8-1	26	26			ovary(1)	1	Broad	transient receptor potential cation channel,		Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	3486725		0.473	ENSG00000196689	16345	g.chr17:3486725C>G	cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding	Melanoma(38;962 1762 15789)			Melanoma(38;962 1762 15789)			7.145119	KEEP	0	2	-1	4	3	0	2	-1	7.783869	4	3	0.222222	1	0	0	0	0	0	0	0	1	--	--		0	G			TRPV1_uc010vro.1_Splice_Site_p.P473_splice|TRPV1_uc010vrp.1_Splice_Site_p.P402_splice|TRPV1_uc010vrq.1_Splice_Site_p.P460_splice|TRPV1_uc010vrs.1_Splice_Site_p.P462_splice|TRPV1_uc010vrt.1_Splice_Site_p.P462_splice|TRPV1_uc010vru.1_Splice_Site_p.P462_splice	78	GBM-06-0939-TP	p.P462_splice	C	TAAAGGGAGGCTGTGAGATGC	NM_080706	NP_542437	3486725	Q8NER1	TRPV1_HUMAN	0		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	8	1911	-	G	G			Splice_Site							
TRPV1	0	broad.mit.edu	GRCh37	17	3493599	3493599	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01	TCGA-19-5951-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399756.4:c.692C>T	p.Ala231Val	p.A231V	ENST00000399756	NM_080706.3	231	gCg/gTg	0			1			A	A/V	uc010vrr.1	protein_coding		CCDS45576.1			692/2520									ovary(1)	1	c.(691-693)GCG>GTG			Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF17,Superfamily_domains:SSF48403,TIGRFAM_domain:TIGR00870	transient receptor potential cation channel,	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)			ENSP00000382659		15-Apr									COSM3402800,COSM3402801,COSM3402799	15-Apr	.		ENST00000399756	Transcript			cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding	ENSG00000196689	g.chr17:3493599G>A	12716			MODERATE		0.08	neutral	getma.org/?cm=msa&ty=f&p=TRPV1_HUMAN&rb=201&re=232&var=A231V	getma.org/pdb.php?prot=TRPV1_HUMAN&from=201&to=232&var=A231V	getma.org/?cm=var&var=hg19,17,3493599,G,A&fts=all	A231V	--	--	1																																		TRPV1_uc010vro.1_Missense_Mutation_p.A231V|TRPV1_uc010vrp.1_Missense_Mutation_p.A231V|TRPV1_uc010vrq.1_Missense_Mutation_p.A229V|TRPV1_uc010vrs.1_Missense_Mutation_p.A231V|TRPV1_uc010vrt.1_Missense_Mutation_p.A231V|TRPV1_uc010vru.1_Missense_Mutation_p.A231V	1,1,1			possibly_damaging(0.663)	p.A231V	NM_080706	NP_542437		deleterious(0.05)	1,1,1	TRPV1_HUMAN	TRPV1	HGNC	Q8NER1	TRPV1_HUMAN		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Q8IZY9_HUMAN		4	1219	-			UPI00005B2E0C	231			ANK 3.|Cytoplasmic (Potential).		SNV	TRPV1,missense_variant,p.Ala229Val,ENST00000174621,;SHPK,missense_variant,p.Ala231Val,ENST00000572705,NM_080704.3;TRPV1,missense_variant,p.Ala231Val,ENST00000571088,NM_018727.5;TRPV1,missense_variant,p.Ala231Val,ENST00000399759,NM_080705.3;TRPV1,missense_variant,p.Ala231Val,ENST00000399756,NM_080706.3;TRPV1,missense_variant,p.Ala231Val,ENST00000425167,;TRPV1,missense_variant,p.Ala231Val,ENST00000576351,;TRPV1,missense_variant,p.Ala231Val,ENST00000310522,;SHPK,3_prime_UTR_variant,,ENST00000572919,;TRPV1,non_coding_transcript_exon_variant,,ENST00000574085,;	uc010vrr.1	c.692C>T	1219/4068	2	2			c.692C>T						17	SNP	c.(691-693)GCG>GTG	22	22			ovary(1)	1	Broad	transient receptor potential cation channel,		Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	3493599		0.572	ENSG00000196689	16345	g.chr17:3493599G>A	cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding	Melanoma(38;962 1762 15789)			Melanoma(38;962 1762 15789)			-8.4632	KEEP	3	1	-1	29	56	3	1	-1	7.611168	29	56	0.052632	1	0	0	0	0	1	0	0	0	--	--		0	A			TRPV1_uc010vro.1_Missense_Mutation_p.A231V|TRPV1_uc010vrp.1_Missense_Mutation_p.A231V|TRPV1_uc010vrq.1_Missense_Mutation_p.A229V|TRPV1_uc010vrs.1_Missense_Mutation_p.A231V|TRPV1_uc010vrt.1_Missense_Mutation_p.A231V|TRPV1_uc010vru.1_Missense_Mutation_p.A231V	171	GBM-19-5951-TP	p.A231V	G	CCCATGGGCCGCAGCCTGGAC	NM_080706	NP_542437	3493599	Q8NER1	TRPV1_HUMAN	0		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	4	1219	-	A	A			Missense_Mutation	231			ANK 3.|Cytoplasmic (Potential).			
TRPV2	51393	broad.mit.edu	GRCh37	17	16321183	16321183	+	splice_donor_variant	Splice_Site	SNP	G	G	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338560.7:c.200+1G>A		p.X67_splice	ENST00000338560	NM_016113.4	67		0			1			A		uc002gpy.2	protein_coding	YES	CCDS32576.1			200/2295									ovary(1)	1	c.e2+1				transient receptor potential cation channel,				ENSP00000342222											COSM2152200		.		ENST00000338560	Transcript			sensory perception	integral to plasma membrane|melanosome	calcium channel activity	ENSG00000187688	g.chr17:16321183G>A	18082			HIGH	14-Feb							--	--	1																																		TRPV2_uc002gpz.2_Splice_Site	1	1			p.S67_splice	NM_016113	NP_057197			1	TRPV2_HUMAN	TRPV2	HGNC	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	J3QKR1_HUMAN		2	567	+			UPI0000032F4E						SNV	TRPV2,splice_donor_variant,,ENST00000338560,NM_016113.4;TRPV2,splice_donor_variant,,ENST00000577397,;TRPV2,upstream_gene_variant,,ENST00000455666,;RP11-138I1.2,upstream_gene_variant,,ENST00000580996,;	uc002gpy.2	c.200_splice	-/2808	5	2			c.200_splice						17	SNP	c.e2+1	23	23			ovary(1)	1	Broad	transient receptor potential cation channel,			16321183		0.617	ENSG00000187688	16346	g.chr17:16321183G>A	sensory perception	integral to plasma membrane|melanosome	calcium channel activity							43.815275	KEEP	4	11	-1	11	14	4	11	-1	44.270674	11	14	0.384615	1	0	0	0	0	0	0	0	1	--	--		0	A			TRPV2_uc002gpz.2_Splice_Site	73	GBM-06-0877-TP	p.S67_splice	G	CAGGTGCCAGGTGAGACAGCA	NM_016113	NP_057197	16321183	Q9Y5S1	TRPV2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	2	567	+	A	A			Splice_Site							
TRPV2	51393		GRCh37	17	16323552	16323552	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000338560.7:c.324G>A	p.Ser108=	p.S108=	ENST00000338560	NM_016113.4	108	tcG/tcA	0																																																																																																																																																																																																																																												
TRPV4	59341	broad.mit.edu	GRCh37	12	110236432	110236432	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0157-01	TCGA-06-0157-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000418703.2:c.1139C>T	p.Thr380Met	p.T380M	ENST00000418703	NM_001177431.1	380	aCg/aTg	0			1			A	T/M	uc001tpj.1	protein_coding		CCDS9134.1			1139/2616									ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	c.(1138-1140)ACG>ATG			Gene3D:1.25.40.20,PROSITE_profiles:PS50297,hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF4,SMART_domains:SM00248,Superfamily_domains:SSF48403,TIGRFAM_domain:TIGR00870	transient receptor potential cation channel,				ENSP00000261740		16-Jun	9.88E-05	0.000193				0.00012		0.000121	rs764949536,COSM1946672	16-Jun	.		ENST00000261740	Transcript	1		actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	ENSG00000111199	g.chr12:110236432G>A	18083			MODERATE		0.5	neutral	getma.org/?cm=msa&ty=f&p=TRPV4_HUMAN&rb=270&re=469&var=T380M	getma.org/pdb.php?prot=TRPV4_HUMAN&from=270&to=469&var=T380M	getma.org/?cm=var&var=hg19,12,110236432,G,A&fts=all	T380M	--	--	1																																		TRPV4_uc001tpg.1_Missense_Mutation_p.T346M|TRPV4_uc001tph.1_Missense_Mutation_p.T333M|TRPV4_uc001tpi.1_Missense_Mutation_p.T333M|TRPV4_uc001tpk.1_Missense_Mutation_p.T380M|TRPV4_uc001tpl.1_Missense_Mutation_p.T380M	0,1			benign(0.064)	p.T380M	NM_021625	NP_067638		deleterious(0.04)	0,1	TRPV4_HUMAN	TRPV4	HGNC	Q9HBA0	TRPV4_HUMAN			F5H6Q4_HUMAN		5	1234	-			UPI000003BB44	380			Cytoplasmic (Potential).|ANK 3.		SNV	TRPV4,missense_variant,p.Thr380Met,ENST00000418703,NM_001177431.1;TRPV4,missense_variant,p.Thr380Met,ENST00000261740,NM_021625.4;TRPV4,missense_variant,p.Thr333Met,ENST00000392719,;TRPV4,missense_variant,p.Thr380Met,ENST00000346520,;TRPV4,missense_variant,p.Thr346Met,ENST00000536838,;TRPV4,missense_variant,p.Thr333Met,ENST00000541794,NM_001177428.1;TRPV4,missense_variant,p.Thr380Met,ENST00000537083,NM_147204.2;TRPV4,missense_variant,p.Thr333Met,ENST00000544971,NM_001177433.1;TRPV4,missense_variant,p.Thr380Met,ENST00000538125,;	uc001tpj.1	c.1139C>T	1222/3233	2	2			c.1139C>T						12	SNP	c.(1138-1140)ACG>ATG	41	41			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	Broad	transient receptor potential cation channel,			110236432		0.612	ENSG00000111199	16348	g.chr12:110236432G>A	actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding							90.580699	KEEP	24	21	-1	28	28	24	21	-1	90.632693	28	28	0.470588	1	0	0	0	0	1	0	0	0	--	--		0	A			TRPV4_uc001tpg.1_Missense_Mutation_p.T346M|TRPV4_uc001tph.1_Missense_Mutation_p.T333M|TRPV4_uc001tpi.1_Missense_Mutation_p.T333M|TRPV4_uc001tpk.1_Missense_Mutation_p.T380M|TRPV4_uc001tpl.1_Missense_Mutation_p.T380M	28	GBM-06-0157-TP	p.T380M	G	AATCTTGCCCGTCTTGGCAGC	NM_021625	NP_067638	110236432	Q9HBA0	TRPV4_HUMAN	0			5	1234	-	A	A			Missense_Mutation	380			Cytoplasmic (Potential).|ANK 3.			
TRPV4	0	broad.mit.edu	GRCh37	12	110236625	110236625	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1832-01	TCGA-27-1832-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261740.2:c.946C>T	p.Arg316Cys	p.R316C	ENST00000261740	NM_021625.4	316	Cgc/Tgc	0			1			A	R/C	uc001tpj.1	protein_coding		CCDS9134.1			946/2616						pathogenic			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	c.(946-948)CGC>TGC			Gene3D:1.25.40.20,PROSITE_profiles:PS50297,hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF4,Superfamily_domains:SSF48403,TIGRFAM_domain:TIGR00870	transient receptor potential cation channel,				ENSP00000261740		16-Jun									rs267607145,COSM3398334	16-Jun	.		ENST00000261740	Transcript	1		actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	ENSG00000111199	g.chr12:110236625G>A	18083			MODERATE		1.135	low	getma.org/?cm=msa&ty=f&p=TRPV4_HUMAN&rb=270&re=469&var=R316C	getma.org/pdb.php?prot=TRPV4_HUMAN&from=270&to=469&var=R316C	getma.org/?cm=var&var=hg19,12,110236625,G,A&fts=all	R316C	--	--	1																																		TRPV4_uc001tpg.1_Missense_Mutation_p.R282C|TRPV4_uc001tph.1_Missense_Mutation_p.R269C|TRPV4_uc001tpi.1_Missense_Mutation_p.R269C|TRPV4_uc001tpk.1_Missense_Mutation_p.R316C|TRPV4_uc001tpl.1_Missense_Mutation_p.R316C	1,1			probably_damaging(0.976)	p.R316C	NM_021625	NP_067638		deleterious(0.01)	0,1	TRPV4_HUMAN	TRPV4	HGNC	Q9HBA0	TRPV4_HUMAN			F5H6Q4_HUMAN		5	1041	-			UPI000003BB44	316		R -> C (in CMT2C and SPSMA).	Cytoplasmic (Potential).		SNV	TRPV4,missense_variant,p.Arg316Cys,ENST00000418703,NM_001177431.1;TRPV4,missense_variant,p.Arg316Cys,ENST00000261740,NM_021625.4;TRPV4,missense_variant,p.Arg269Cys,ENST00000392719,;TRPV4,missense_variant,p.Arg316Cys,ENST00000346520,;TRPV4,missense_variant,p.Arg282Cys,ENST00000536838,;TRPV4,missense_variant,p.Arg269Cys,ENST00000541794,NM_001177428.1;TRPV4,missense_variant,p.Arg316Cys,ENST00000537083,NM_147204.2;TRPV4,missense_variant,p.Arg269Cys,ENST00000544971,NM_001177433.1;TRPV4,missense_variant,p.Arg316Cys,ENST00000538125,;	uc001tpj.1	c.946C>T	1029/3233	1	1			c.946C>T						12	SNP	c.(946-948)CGC>TGC	63	63			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	Broad	transient receptor potential cation channel,			110236625		0.612	ENSG00000111199	16348	g.chr12:110236625G>A	actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding							115.014256	KEEP	39	8	-1	68	39	39	8	-1	119.946063	68	39	0.306122	1	0	0	0	0	1	0	0	0	--	--		0	A			TRPV4_uc001tpg.1_Missense_Mutation_p.R282C|TRPV4_uc001tph.1_Missense_Mutation_p.R269C|TRPV4_uc001tpi.1_Missense_Mutation_p.R269C|TRPV4_uc001tpk.1_Missense_Mutation_p.R316C|TRPV4_uc001tpl.1_Missense_Mutation_p.R316C	191	GBM-27-1832-TP	p.R316C	G	GAGTCCTGGCGCCGCATGTCC	NM_021625	NP_067638	110236625	Q9HBA0	TRPV4_HUMAN	0			5	1041	-	A	A			Missense_Mutation	316		R -> C (in CMT2C and SPSMA).	Cytoplasmic (Potential).			
TRPV4	0	broad.mit.edu	GRCh37	12	110226433	110226433	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-2524-01	TCGA-27-2524-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261740.2:c.1980C>T	p.Cys660=	p.C660=	ENST00000261740	NM_021625.4	660	tgC/tgT	0			1			A	C	uc001tpj.1	protein_coding		CCDS9134.1			1980/2616									ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	c.(1978-1980)TGC>TGT			Pfam_domain:PF00520,Prints_domain:PR01769,hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF4,TIGRFAM_domain:TIGR00870	transient receptor potential cation channel,				ENSP00000261740		13/16									COSM248022	13/16	.		ENST00000261740	Transcript	1		actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	ENSG00000111199	g.chr12:110226433G>A	18083			LOW								--	--	1																																		TRPV4_uc001tpg.1_Silent_p.C626C|TRPV4_uc001tph.1_Silent_p.C613C|TRPV4_uc001tpi.1_Silent_p.C553C|TRPV4_uc001tpk.1_Silent_p.C660C|TRPV4_uc001tpl.1_Silent_p.C600C	1				p.C660C	NM_021625	NP_067638			1	TRPV4_HUMAN	TRPV4	HGNC	Q9HBA0	TRPV4_HUMAN			F5H6Q4_HUMAN		12	2075	-			UPI000003BB44	660					SNV	TRPV4,synonymous_variant,p.=,ENST00000418703,NM_001177431.1;TRPV4,synonymous_variant,p.=,ENST00000261740,NM_021625.4;TRPV4,synonymous_variant,p.=,ENST00000392719,;TRPV4,synonymous_variant,p.=,ENST00000346520,;TRPV4,synonymous_variant,p.=,ENST00000536838,;TRPV4,synonymous_variant,p.=,ENST00000541794,NM_001177428.1;TRPV4,synonymous_variant,p.=,ENST00000537083,NM_147204.2;TRPV4,synonymous_variant,p.=,ENST00000544971,NM_001177433.1;TRPV4,3_prime_UTR_variant,,ENST00000538125,;	uc001tpj.1	c.1980C>T	2063/3233	2	2			c.1980C>T						12	SNP	c.(1978-1980)TGC>TGT	23	23			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	Broad	transient receptor potential cation channel,			110226433		0.597	ENSG00000111199	16348	g.chr12:110226433G>A	actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding							-48.587273	KEEP	3	1	-1	119	106	3	1	-1	6.315743	119	106	0.018957	1	0	0	0	0	0	0	1	0	--	--		0	A			TRPV4_uc001tpg.1_Silent_p.C626C|TRPV4_uc001tph.1_Silent_p.C613C|TRPV4_uc001tpi.1_Silent_p.C553C|TRPV4_uc001tpk.1_Silent_p.C660C|TRPV4_uc001tpl.1_Silent_p.C600C	202	GBM-27-2524-TP	p.C660C	G	CGCTGTCACGGCACGAGGGGT	NM_021625	NP_067638	110226433	Q9HBA0	TRPV4_HUMAN	0			12	2075	-	A	A			Silent	660						
TRPV4	0	broad.mit.edu	GRCh37	12	110238470	110238470	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01	TCGA-27-2524-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261740.2:c.806G>A	p.Arg269His	p.R269H	ENST00000261740	NM_021625.4	269	cGt/cAt	0			1			T	R/H	uc001tpj.1	protein_coding		CCDS9134.1			806/2616						pathogenic			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	c.(805-807)CGT>CAT			Gene3D:1.25.40.20,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF4,Superfamily_domains:SSF48403,TIGRFAM_domain:TIGR00870	transient receptor potential cation channel,				ENSP00000261740		16-May									rs267607144,COSM3398335	16-May	.		ENST00000261740	Transcript	1		actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	ENSG00000111199	g.chr12:110238470C>T	18083			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=TRPV4_HUMAN&rb=237&re=269&var=R269H	getma.org/pdb.php?prot=TRPV4_HUMAN&from=237&to=269&var=R269H	getma.org/?cm=var&var=hg19,12,110238470,C,T&fts=all	R269H	--	--	1																																		TRPV4_uc001tpg.1_Missense_Mutation_p.R235H|TRPV4_uc001tph.1_Intron|TRPV4_uc001tpi.1_Intron|TRPV4_uc001tpk.1_Missense_Mutation_p.R269H|TRPV4_uc001tpl.1_Missense_Mutation_p.R269H	1,1			possibly_damaging(0.86)	p.R269H	NM_021625	NP_067638		tolerated(0.28)	0,1	TRPV4_HUMAN	TRPV4	HGNC	Q9HBA0	TRPV4_HUMAN			F5H6Q4_HUMAN		4	901	-			UPI000003BB44	269		R -> H (in CMT2C and DSMAC).|R -> C (in CMT2C).	Cytoplasmic (Potential).		SNV	TRPV4,missense_variant,p.Arg269His,ENST00000418703,NM_001177431.1;TRPV4,missense_variant,p.Arg269His,ENST00000261740,NM_021625.4;TRPV4,missense_variant,p.Arg269His,ENST00000346520,;TRPV4,missense_variant,p.Arg235His,ENST00000536838,;TRPV4,missense_variant,p.Arg269His,ENST00000537083,NM_147204.2;TRPV4,intron_variant,,ENST00000392719,;TRPV4,intron_variant,,ENST00000541794,NM_001177428.1;TRPV4,intron_variant,,ENST00000544971,NM_001177433.1;TRPV4,missense_variant,p.Arg269His,ENST00000538125,;	uc001tpj.1	c.806G>A	889/3233	2	2			c.806G>A						12	SNP	c.(805-807)CGT>CAT	25	25			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	Broad	transient receptor potential cation channel,			110238470		0.632	ENSG00000111199	16348	g.chr12:110238470C>T	actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding							139.727826	KEEP	22	29	-1	38	40	22	29	-1	140.682664	38	40	0.403361	1	0	0	0	0	1	0	0	0	--	--		0	T			TRPV4_uc001tpg.1_Missense_Mutation_p.R235H|TRPV4_uc001tph.1_Intron|TRPV4_uc001tpi.1_Intron|TRPV4_uc001tpk.1_Missense_Mutation_p.R269H|TRPV4_uc001tpl.1_Missense_Mutation_p.R269H	202	GBM-27-2524-TP	p.R269H	C	GAAGCGCCCACGGGCCTGGGC	NM_021625	NP_067638	110238470	Q9HBA0	TRPV4_HUMAN	0			4	901	-	T	T			Missense_Mutation	269		R -> H (in CMT2C and DSMAC).|R -> C (in CMT2C).	Cytoplasmic (Potential).			
TRPV5	56302	broad.mit.edu	GRCh37	7	142625890	142625890	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-2569-01	TCGA-06-2569-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265310.1:c.658C>A	p.Leu220Met	p.L220M	ENST00000265310	NM_019841.4	220	Ctg/Atg	0			1			T	L/M	uc003wby.1	protein_coding	YES	CCDS5875.1			658/2190									ovary(3)|central_nervous_system(2)|skin(1)	6	c.(658-660)CTG>ATG			PROSITE_profiles:PS50297,hmmpanther:PTHR10582:SF11,hmmpanther:PTHR10582,TIGRFAM_domain:TIGR00870,Gene3D:1.25.40.20,Superfamily_domains:SSF48403,Prints_domain:PR01765	transient receptor potential cation channel,				ENSP00000265310		15-Jun									COSM3411703	15-Jun	.		ENST00000265310	Transcript			protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	ENSG00000127412	g.chr7:142625890G>T	3145			MODERATE		1.99	medium	getma.org/?cm=msa&ty=f&p=TRPV5_HUMAN&rb=149&re=231&var=L220M	getma.org/pdb.php?prot=TRPV5_HUMAN&from=149&to=231&var=L220M	getma.org/?cm=var&var=hg19,7,142625890,G,T&fts=all	L220M	--	--	1																																		TRPV5_uc003wbz.2_Missense_Mutation_p.L220M	1	1		possibly_damaging(0.601)	p.L220M	NM_019841	NP_062815		tolerated(0.21)	1	TRPV5_HUMAN	TRPV5	HGNC	Q9NQA5	TRPV5_HUMAN			Q9H480_HUMAN		6	922	-	Melanoma(164;0.059)		UPI0000052B76	220			Cytoplasmic (Potential).		SNV	TRPV5,missense_variant,p.Leu220Met,ENST00000265310,NM_019841.4;TRPV5,missense_variant,p.Leu220Met,ENST00000442623,;TRPV5,missense_variant,p.Leu214Met,ENST00000439304,;	uc003wby.1	c.658C>A	1007/2952	1	1			c.658C>A						7	SNP	c.(658-660)CTG>ATG	10	10			ovary(3)|central_nervous_system(2)|skin(1)	6	Broad	transient receptor potential cation channel,			142625890		0.572	ENSG00000127412	16349	g.chr7:142625890G>T	protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity							-6.259916	KEEP	1	4	0.2	35	36	1	4	0.2	7.881626	35	36	0.057971	1	0	0	0	0	1	0	0	0	--	--		0	T			TRPV5_uc003wbz.2_Missense_Mutation_p.L220M	90	GBM-06-2569-TP	p.L220M	G	TCGTAGGACAGCAGCAGGTTG	NM_019841	NP_062815	142625890	Q9NQA5	TRPV5_HUMAN	0			6	922	-	T	T	Melanoma(164;0.059)		Missense_Mutation	220			Cytoplasmic (Potential).			
TRPV5	0	broad.mit.edu	GRCh37	7	142605705	142605705	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-14-0740-01	TCGA-14-0740-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265310.1:c.2165A>G	p.Asp722Gly	p.D722G	ENST00000265310	NM_019841.4	722	gAt/gGt	0			1			C	D/G	uc003wby.1	protein_coding	YES	CCDS5875.1			2165/2190									ovary(3)|central_nervous_system(2)|skin(1)	6	c.(2164-2166)GAT>GGT			hmmpanther:PTHR10582:SF11,hmmpanther:PTHR10582	transient receptor potential cation channel,				ENSP00000265310		15/15									COSM3411700	15/15	.		ENST00000265310	Transcript			protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	ENSG00000127412	g.chr7:142605705T>C	3145			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=TRPV5_HUMAN&rb=579&re=729&var=D722G	NA	getma.org/?cm=var&var=hg19,7,142605705,T,C&fts=all	D722G	--	--	1																																			1	1		benign(0.01)	p.D722G	NM_019841	NP_062815		tolerated(0.18)	1	TRPV5_HUMAN	TRPV5	HGNC	Q9NQA5	TRPV5_HUMAN			Q9H480_HUMAN		15	2429	-	Melanoma(164;0.059)		UPI0000052B76	722			Cytoplasmic (Potential).|Involved in Ca(2+)-dependent inactivation (By similarity).		SNV	TRPV5,missense_variant,p.Asp722Gly,ENST00000265310,NM_019841.4;TRPV5,missense_variant,p.Asp667Gly,ENST00000439304,;	uc003wby.1	c.2165A>G	2514/2952	3	3			c.2165A>G						7	SNP	c.(2164-2166)GAT>GGT	61	61			ovary(3)|central_nervous_system(2)|skin(1)	6	Broad	transient receptor potential cation channel,			142605705		0.567	ENSG00000127412	16349	g.chr7:142605705T>C	protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity							-11.030519	KEEP	3	1	-1	40	46	3	1	-1	6.911761	40	46	0.038462	1	0	0	0	0	1	0	0	0	--	--		0	C				132	GBM-14-0740-TP	p.D722G	T	CTCCTCTCCATCCCCCTCACT	NM_019841	NP_062815	142605705	Q9NQA5	TRPV5_HUMAN	0			15	2429	-	C	C	Melanoma(164;0.059)		Missense_Mutation	722			Cytoplasmic (Potential).|Involved in Ca(2+)-dependent inactivation (By similarity).			
TRPV5	0	broad.mit.edu	GRCh37	7	142622682	142622682	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265310.1:c.1064G>A	p.Arg355His	p.R355H	ENST00000265310	NM_019841.4	355	cGt/cAt	0	T:0.0005	T:0	1	T:0		T	R/H	uc003wby.1	protein_coding	YES	CCDS5875.1			1064/2190								p.R355L(1)|p.R355H(1)	ovary(3)|central_nervous_system(2)|skin(1)	6	c.(1063-1065)CGT>CAT			hmmpanther:PTHR10582:SF11,hmmpanther:PTHR10582,TIGRFAM_domain:TIGR00870,Prints_domain:PR01765	transient receptor potential cation channel,		T:0.001	T:0	ENSP00000265310	T:0	15-Aug	9.06E-05	0.000192	0.000259	0.000462		3.00E-05			rs200067461,COSM39756	15-Aug	common_variant		ENST00000265310	Transcript		T:0.0002	protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	ENSG00000127412	g.chr7:142622682C>T	3145			MODERATE		2.52	medium	getma.org/?cm=msa&ty=f&p=TRPV5_HUMAN&rb=232&re=385&var=R355H	NA	getma.org/?cm=var&var=hg19,7,142622682,C,T&fts=all	R355H	--	--	1																																		TRPV5_uc003wbz.2_Missense_Mutation_p.R355H	0,1	1		benign(0.057)	p.R355H	NM_019841	NP_062815	T:0	tolerated(0.43)	0,1	TRPV5_HUMAN	TRPV5	HGNC	Q9NQA5	TRPV5_HUMAN			Q9H480_HUMAN		8	1328	-	Melanoma(164;0.059)		UPI0000052B76	355			Extracellular (Potential).		SNV	TRPV5,missense_variant,p.Arg355His,ENST00000265310,NM_019841.4;TRPV5,missense_variant,p.Arg355His,ENST00000442623,;TRPV5,missense_variant,p.Arg300His,ENST00000439304,;	uc003wby.1	c.1064G>A	1413/2952	1	1			c.1064G>A						7	SNP	c.(1063-1065)CGT>CAT	6	6		p.R355L(1)|p.R355H(1)	ovary(3)|central_nervous_system(2)|skin(1)	6	Broad	transient receptor potential cation channel,			142622682		0.517	ENSG00000127412	16349	g.chr7:142622682C>T	protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity							57.182599	KEEP	18	11	-1	64	59	18	11	-1	66.855504	64	59	0.209677	1	0	0	0	0	1	0	0	0	--	--		0	T			TRPV5_uc003wbz.2_Missense_Mutation_p.R355H	139	GBM-14-0817-TP	p.R355H	C	GTTGCCACCACGAAACTTAAG	NM_019841	NP_062815	142622682	Q9NQA5	TRPV5_HUMAN	0			8	1328	-	T	T	Melanoma(164;0.059)		Missense_Mutation	355			Extracellular (Potential).			
TRPV5	0	broad.mit.edu	GRCh37	7	142625188	142625188	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265310.1:c.904C>T	p.Arg302Ter	p.R302*	ENST00000265310	NM_019841.4	302	Cga/Tga	0			1			A	R/*	uc003wby.1	protein_coding	YES	CCDS5875.1			904/2190								p.R302R(1)	ovary(3)|central_nervous_system(2)|skin(1)	6	c.(904-906)CGA>TGA			hmmpanther:PTHR10582:SF11,hmmpanther:PTHR10582,TIGRFAM_domain:TIGR00870,Prints_domain:PR01765	transient receptor potential cation channel,				ENSP00000265310		15-Jul									COSM2157503	15-Jul	.		ENST00000265310	Transcript			protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	ENSG00000127412	g.chr7:142625188G>A	3145			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,142625188,G,A&fts=all	R302*	--	--	1																																		TRPV5_uc003wbz.2_Nonsense_Mutation_p.R302*	1	1			p.R302*	NM_019841	NP_062815			1	TRPV5_HUMAN	TRPV5	HGNC	Q9NQA5	TRPV5_HUMAN			Q9H480_HUMAN		7	1168	-	Melanoma(164;0.059)		UPI0000052B76	302			Cytoplasmic (Potential).		SNV	TRPV5,stop_gained,p.Arg302Ter,ENST00000265310,NM_019841.4;TRPV5,stop_gained,p.Arg302Ter,ENST00000442623,;TRPV5,intron_variant,,ENST00000439304,;	uc003wby.1	c.904C>T	1253/2952	5	2			c.904C>T						7	SNP	c.(904-906)CGA>TGA	29	29		p.R302R(1)	ovary(3)|central_nervous_system(2)|skin(1)	6	Broad	transient receptor potential cation channel,			142625188		0.527	ENSG00000127412	16349	g.chr7:142625188G>A	protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity							190.320957	KEEP	40	39	-1	91	71	40	39	-1	197.186263	91	71	0.311927	1	0	0	0	0	0	1	0	0	--	--		0	A			TRPV5_uc003wbz.2_Nonsense_Mutation_p.R302*	265	GBM-76-4925-TP	p.R302*	G	CATACCTCTCGTTTATCAGAG	NM_019841	NP_062815	142625188	Q9NQA5	TRPV5_HUMAN	0			7	1168	-	A	A	Melanoma(164;0.059)		Nonsense_Mutation	302			Cytoplasmic (Potential).			
TRPV6	55503	broad.mit.edu	GRCh37	7	142573221	142573221	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0171-01	TCGA-06-0171-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359396.3:c.1122G>T	p.Gln374His	p.Q374H	ENST00000359396	NM_018646.4	374	caG/caT	0			1			A	Q/H	uc003wbx.1	protein_coding	YES	CCDS5874.1			1122/2178									ovary(2)	2	c.(1120-1122)CAG>CAT			TIGRFAM_domain:TIGR00870,hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF21	transient receptor potential cation channel,				ENSP00000352358		15-Aug									COSM2150334	15-Aug	.		ENST00000359396	Transcript			regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	ENSG00000165125	g.chr7:142573221C>A	14006			MODERATE		2.985	medium	getma.org/?cm=msa&ty=f&p=TRPV6_HUMAN&rb=266&re=390&var=Q374H	NA	getma.org/?cm=var&var=hg19,7,142573221,C,A&fts=all	Q374H	--	--	1																																		TRPV6_uc003wbw.1_Missense_Mutation_p.Q160H|TRPV6_uc010lou.1_Missense_Mutation_p.Q245H	1	1		benign(0.078)	p.Q374H	NM_018646	NP_061116		deleterious(0.01)	1	TRPV6_HUMAN	TRPV6	HGNC	Q9H1D0	TRPV6_HUMAN			Q9NXZ3_HUMAN,Q8NBV5_HUMAN,C9J9W0_HUMAN		8	1338	-	Melanoma(164;0.059)		UPI000000D91B	374			Extracellular (Potential).		SNV	TRPV6,missense_variant,p.Gln374His,ENST00000359396,NM_018646.4;TRPV6,splice_region_variant,,ENST00000436401,;EPHB6,downstream_gene_variant,,ENST00000392957,NM_004445.4,NM_001280794.1;EPHB6,downstream_gene_variant,,ENST00000442129,;EPHB6,downstream_gene_variant,,ENST00000411471,NM_001280795.1;TRPV6,downstream_gene_variant,,ENST00000431833,;RP11-114L10.2,upstream_gene_variant,,ENST00000438839,;EPHB6,downstream_gene_variant,,ENST00000476059,;TRPV6,splice_region_variant,,ENST00000487077,;TRPV6,splice_region_variant,,ENST00000485138,;TRPV6,splice_region_variant,,ENST00000463646,;EPHB6,downstream_gene_variant,,ENST00000466783,;EPHB6,downstream_gene_variant,,ENST00000425995,;EPHB6,downstream_gene_variant,,ENST00000422643,;EPHB6,downstream_gene_variant,,ENST00000486511,;TRPV6,downstream_gene_variant,,ENST00000489123,;TRPV6,downstream_gene_variant,,ENST00000474388,;EPHB6,downstream_gene_variant,,ENST00000471581,;	uc003wbx.1	c.1122G>T	1368/2928	2	2			c.1122G>T						7	SNP	c.(1120-1122)CAG>CAT	21	21			ovary(2)	2	Broad	transient receptor potential cation channel,			142573221		0.577	ENSG00000165125	16350	g.chr7:142573221C>A	regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding							92.964096	KEEP	24	14	0.368421053	60	50	24	14	0.368421053	99.21379	60	50	0.269231	1	0	0	0	0	1	0	0	0	--	--		0	A			TRPV6_uc003wbw.1_Missense_Mutation_p.Q160H|TRPV6_uc010lou.1_Missense_Mutation_p.Q245H	35	GBM-06-0171-TP	p.Q374H	C	AGGGTGTCACCTGAAGTAGCT	NM_018646	NP_061116	142573221	Q9H1D0	TRPV6_HUMAN	0			8	1338	-	A	A	Melanoma(164;0.059)		Missense_Mutation	374			Extracellular (Potential).			
TRPV6	55503	broad.mit.edu	GRCh37	7	142572331	142572331	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0686-01	TCGA-06-0686-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359396.3:c.1365del	p.Phe456LeufsTer20	p.F456Lfs*20	ENST00000359396	NM_018646.4	455	tcC/tc	0			1			-	S/X	uc003wbx.1	protein_coding	YES	CCDS5874.1			1365/2178									ovary(2)	2	c.(1363-1365)TCCfs			TIGRFAM_domain:TIGR00870,Pfam_domain:PF00520,hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF21	transient receptor potential cation channel,				ENSP00000352358		15-Nov									COSM2151569	15-Nov	.		ENST00000359396	Transcript			regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	ENSG00000165125	g.chr7:142572331delG	14006			HIGH								--	--	1																																		TRPV6_uc003wbw.1_Frame_Shift_Del_p.S241fs|TRPV6_uc010lou.1_Frame_Shift_Del_p.S326fs	1	1			p.S455fs	NM_018646	NP_061116			1	TRPV6_HUMAN	TRPV6	HGNC	Q9H1D0	TRPV6_HUMAN			Q9NXZ3_HUMAN,Q8NBV5_HUMAN,C9J9W0_HUMAN		11	1581	-	Melanoma(164;0.059)		UPI000000D91B	455			Helical; (Potential).		deletion	TRPV6,frameshift_variant,p.Phe456LeufsTer20,ENST00000359396,NM_018646.4;TRPV6,frameshift_variant,p.Phe79LeufsTer20,ENST00000436401,;EPHB6,downstream_gene_variant,,ENST00000392957,NM_004445.4,NM_001280794.1;EPHB6,downstream_gene_variant,,ENST00000442129,;EPHB6,downstream_gene_variant,,ENST00000411471,NM_001280795.1;TRPV6,downstream_gene_variant,,ENST00000431833,;RP11-114L10.2,upstream_gene_variant,,ENST00000438839,;EPHB6,downstream_gene_variant,,ENST00000476059,;TRPV6,non_coding_transcript_exon_variant,,ENST00000487077,;TRPV6,non_coding_transcript_exon_variant,,ENST00000485138,;TRPV6,non_coding_transcript_exon_variant,,ENST00000463646,;EPHB6,downstream_gene_variant,,ENST00000466783,;EPHB6,downstream_gene_variant,,ENST00000425995,;EPHB6,downstream_gene_variant,,ENST00000422643,;EPHB6,downstream_gene_variant,,ENST00000486511,;TRPV6,downstream_gene_variant,,ENST00000489123,;TRPV6,downstream_gene_variant,,ENST00000474388,;EPHB6,downstream_gene_variant,,ENST00000471581,;	uc003wbx.1	c.1365delC	1611/2928	5	5			c.1365delC						7	DEL	c.(1363-1365)TCCfs	64	64			ovary(2)	2	Broad	transient receptor potential cation channel,			142572331		0.592	ENSG00000165125	16350	g.chr7:142572331delG	regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding																				0.22	1	1	0	1	0	0	0	0	0	--	--		0	-			TRPV6_uc003wbw.1_Frame_Shift_Del_p.S241fs|TRPV6_uc010lou.1_Frame_Shift_Del_p.S326fs	64	GBM-06-0686-TP	p.S455fs	G	CGAGTGCAAAGGACATGGGTA	NM_018646	NP_061116	142572331	Q9H1D0	TRPV6_HUMAN	0			11	1581	-	-	-	Melanoma(164;0.059)		Frame_Shift_Del	455			Helical; (Potential).			
TRPV6	0	broad.mit.edu	GRCh37	7	142573411	142573411	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01	TCGA-12-1597-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359396.3:c.932C>T	p.Thr311Met	p.T311M	ENST00000359396	NM_018646.4	311	aCg/aTg	0			1			A	T/M	uc003wbx.1	protein_coding	YES	CCDS5874.1			932/2178									ovary(2)	2	c.(931-933)ACG>ATG			TIGRFAM_domain:TIGR00870,hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF21	transient receptor potential cation channel,				ENSP00000352358		15-Aug	1.65E-05					3.02E-05			rs777616496,COSM3411697	15-Aug	.		ENST00000359396	Transcript			regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	ENSG00000165125	g.chr7:142573411G>A	14006			MODERATE		3.08	medium	getma.org/?cm=msa&ty=f&p=TRPV6_HUMAN&rb=266&re=390&var=T311M	NA	getma.org/?cm=var&var=hg19,7,142573411,G,A&fts=all	T311M	--	--	1																																		TRPV6_uc003wbw.1_Missense_Mutation_p.T97M|TRPV6_uc010lou.1_Missense_Mutation_p.T182M	0,1	1		probably_damaging(0.993)	p.T311M	NM_018646	NP_061116		deleterious(0)	0,1	TRPV6_HUMAN	TRPV6	HGNC	Q9H1D0	TRPV6_HUMAN			Q9NXZ3_HUMAN,Q8NBV5_HUMAN,C9J9W0_HUMAN		8	1148	-	Melanoma(164;0.059)		UPI000000D91B	311			Cytoplasmic (Potential).		SNV	TRPV6,missense_variant,p.Thr311Met,ENST00000359396,NM_018646.4;TRPV6,intron_variant,,ENST00000436401,;EPHB6,downstream_gene_variant,,ENST00000392957,NM_004445.4,NM_001280794.1;EPHB6,downstream_gene_variant,,ENST00000442129,;EPHB6,downstream_gene_variant,,ENST00000411471,NM_001280795.1;TRPV6,downstream_gene_variant,,ENST00000431833,;RP11-114L10.2,upstream_gene_variant,,ENST00000438839,;EPHB6,downstream_gene_variant,,ENST00000476059,;TRPV6,non_coding_transcript_exon_variant,,ENST00000487077,;TRPV6,non_coding_transcript_exon_variant,,ENST00000485138,;TRPV6,non_coding_transcript_exon_variant,,ENST00000463646,;EPHB6,downstream_gene_variant,,ENST00000466783,;EPHB6,downstream_gene_variant,,ENST00000425995,;EPHB6,downstream_gene_variant,,ENST00000422643,;EPHB6,downstream_gene_variant,,ENST00000486511,;TRPV6,downstream_gene_variant,,ENST00000489123,;TRPV6,downstream_gene_variant,,ENST00000474388,;	uc003wbx.1	c.932C>T	1178/2928	1	1			c.932C>T						7	SNP	c.(931-933)ACG>ATG	59	59			ovary(2)	2	Broad	transient receptor potential cation channel,			142573411		0.592	ENSG00000165125	16350	g.chr7:142573411G>A	regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding							106.135619	KEEP	33	15	-1	59	62	33	15	-1	111.726883	59	62	0.295302	1	0	0	0	0	1	0	0	0	--	--		0	A			TRPV6_uc003wbw.1_Missense_Mutation_p.T97M|TRPV6_uc010lou.1_Missense_Mutation_p.T182M	124	GBM-12-1597-TP	p.T311M	G	CTTCACCGGCGTCTGGTCCAG	NM_018646	NP_061116	142573411	Q9H1D0	TRPV6_HUMAN	0			8	1148	-	A	A	Melanoma(164;0.059)		Missense_Mutation	311			Cytoplasmic (Potential).			
TRPV6	0	broad.mit.edu	GRCh37	7	142573429	142573429	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-3653-01	TCGA-12-3653-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359396.3:c.914G>A	p.Arg305His	p.R305H	ENST00000359396	NM_018646.4	305	cGc/cAc	0			1			T	R/H	uc003wbx.1	protein_coding	YES	CCDS5874.1			914/2178									ovary(2)	2	c.(913-915)CGC>CAC			Prints_domain:PR01765,TIGRFAM_domain:TIGR00870,hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF21	transient receptor potential cation channel,				ENSP00000352358		15-Aug	8.24E-06					1.52E-05			rs745408146,COSM1448776	15-Aug	.		ENST00000359396	Transcript			regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	ENSG00000165125	g.chr7:142573429C>T	14006			MODERATE		2.005	medium	getma.org/?cm=msa&ty=f&p=TRPV6_HUMAN&rb=266&re=390&var=R305H	NA	getma.org/?cm=var&var=hg19,7,142573429,C,T&fts=all	R305H	--	--	1																																		TRPV6_uc003wbw.1_Missense_Mutation_p.R91H|TRPV6_uc010lou.1_Missense_Mutation_p.R176H	0,1	1		benign(0.055)	p.R305H	NM_018646	NP_061116		tolerated(0.1)	0,1	TRPV6_HUMAN	TRPV6	HGNC	Q9H1D0	TRPV6_HUMAN			Q9NXZ3_HUMAN,Q8NBV5_HUMAN,C9J9W0_HUMAN		8	1130	-	Melanoma(164;0.059)		UPI000000D91B	305			Cytoplasmic (Potential).		SNV	TRPV6,missense_variant,p.Arg305His,ENST00000359396,NM_018646.4;TRPV6,intron_variant,,ENST00000436401,;EPHB6,downstream_gene_variant,,ENST00000392957,NM_004445.4,NM_001280794.1;EPHB6,downstream_gene_variant,,ENST00000442129,;EPHB6,downstream_gene_variant,,ENST00000411471,NM_001280795.1;TRPV6,downstream_gene_variant,,ENST00000431833,;RP11-114L10.2,upstream_gene_variant,,ENST00000438839,;EPHB6,downstream_gene_variant,,ENST00000476059,;TRPV6,non_coding_transcript_exon_variant,,ENST00000487077,;TRPV6,non_coding_transcript_exon_variant,,ENST00000485138,;TRPV6,non_coding_transcript_exon_variant,,ENST00000463646,;EPHB6,downstream_gene_variant,,ENST00000466783,;EPHB6,downstream_gene_variant,,ENST00000425995,;EPHB6,downstream_gene_variant,,ENST00000422643,;EPHB6,downstream_gene_variant,,ENST00000486511,;TRPV6,downstream_gene_variant,,ENST00000489123,;TRPV6,downstream_gene_variant,,ENST00000474388,;	uc003wbx.1	c.914G>A	1160/2928	2	2			c.914G>A						7	SNP	c.(913-915)CGC>CAC	24	24			ovary(2)	2	Broad	transient receptor potential cation channel,			142573429		0.607	ENSG00000165125	16350	g.chr7:142573429C>T	regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding							256.759663	KEEP	40	51	-1	61	66	40	51	-1	256.785672	61	66	0.485714	1	0	0	0	0	1	0	0	0	--	--		0	T			TRPV6_uc003wbw.1_Missense_Mutation_p.R91H|TRPV6_uc010lou.1_Missense_Mutation_p.R176H	128	GBM-12-3653-TP	p.R305H	C	CAGGATCTGGCGAGCCTGCAA	NM_018646	NP_061116	142573429	Q9H1D0	TRPV6_HUMAN	0			8	1130	-	T	T	Melanoma(164;0.059)		Missense_Mutation	305			Cytoplasmic (Potential).			
TRPV6	0	broad.mit.edu	GRCh37	7	142575732	142575732	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-27-1838-01	TCGA-27-1838-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359396.3:c.176A>G	p.Gln59Arg	p.Q59R	ENST00000359396	NM_018646.4	59	cAg/cGg	0			1			C	Q/R	uc003wbx.1	protein_coding	YES	CCDS5874.1			176/2178									ovary(2)	2	c.(175-177)CAG>CGG			Superfamily_domains:SSF48403,SMART_domains:SM00248,TIGRFAM_domain:TIGR00870,Pfam_domain:PF12796,Gene3D:1.25.40.20,hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF21,PROSITE_profiles:PS50297	transient receptor potential cation channel,				ENSP00000352358		15-Feb									COSM3411699	15-Feb	.		ENST00000359396	Transcript			regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	ENSG00000165125	g.chr7:142575732T>C	14006			MODERATE		0.815	low	getma.org/?cm=msa&ty=f&p=TRPV6_HUMAN&rb=49&re=147&var=Q59R	getma.org/pdb.php?prot=TRPV6_HUMAN&from=49&to=147&var=Q59R	getma.org/?cm=var&var=hg19,7,142575732,T,C&fts=all	Q59R	--	--	1																																		TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR	1	1		benign(0.002)	p.Q59R	NM_018646	NP_061116		tolerated(0.54)	1	TRPV6_HUMAN	TRPV6	HGNC	Q9H1D0	TRPV6_HUMAN			Q9NXZ3_HUMAN,Q8NBV5_HUMAN,C9J9W0_HUMAN		2	392	-	Melanoma(164;0.059)		UPI000000D91B	59			ANK 1.|Cytoplasmic (Potential).		SNV	TRPV6,missense_variant,p.Gln59Arg,ENST00000359396,NM_018646.4;TRPV6,5_prime_UTR_variant,,ENST00000431833,;TRPV6,intron_variant,,ENST00000436401,;RP11-114L10.2,intron_variant,,ENST00000438839,;TRPV6,non_coding_transcript_exon_variant,,ENST00000487077,;TRPV6,upstream_gene_variant,,ENST00000485138,;TRPV6,upstream_gene_variant,,ENST00000463646,;TRPV6,upstream_gene_variant,,ENST00000489123,;TRPV6,upstream_gene_variant,,ENST00000474388,;	uc003wbx.1	c.176A>G	422/2928	3	3			c.176A>G						7	SNP	c.(175-177)CAG>CGG	1	1			ovary(2)	2	Broad	transient receptor potential cation channel,			142575732		0.493	ENSG00000165125	16350	g.chr7:142575732T>C	regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding							36.024614	KEEP	22	24	-1	190	193	22	24	-1	91.799337	190	193	0.101983	1	0	0	0	0	1	0	0	0	--	--		0	C			TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR	197	GBM-27-1838-TP	p.Q59R	T	GTTCAGGGCCTGGACATCATT	NM_018646	NP_061116	142575732	Q9H1D0	TRPV6_HUMAN	0			2	392	-	C	C	Melanoma(164;0.059)		Missense_Mutation	59			ANK 1.|Cytoplasmic (Potential).			
TRPV6	0	broad.mit.edu	GRCh37	7	142572296	142572296	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-27-2519-01	TCGA-27-2519-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359396.3:c.1400A>T	p.Tyr467Phe	p.Y467F	ENST00000359396	NM_018646.4	467	tAc/tTc	0			1			A	Y/F	uc003wbx.1	protein_coding	YES	CCDS5874.1			1400/2178									ovary(2)	2	c.(1399-1401)TAC>TTC			Transmembrane_helices:TMhelix,TIGRFAM_domain:TIGR00870,Pfam_domain:PF00520,hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF21	transient receptor potential cation channel,				ENSP00000352358		15-Nov									COSM3411696	15-Nov	.		ENST00000359396	Transcript			regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	ENSG00000165125	g.chr7:142572296T>A	14006			MODERATE		1.78	low	getma.org/?cm=msa&ty=f&p=TRPV6_HUMAN&rb=391&re=578&var=Y467F	NA	getma.org/?cm=var&var=hg19,7,142572296,T,A&fts=all	Y467F	--	--	1																																		TRPV6_uc003wbw.1_Missense_Mutation_p.Y253F|TRPV6_uc010lou.1_Missense_Mutation_p.Y338F	1	1		probably_damaging(0.979)	p.Y467F	NM_018646	NP_061116		tolerated(0.14)	1	TRPV6_HUMAN	TRPV6	HGNC	Q9H1D0	TRPV6_HUMAN			Q9NXZ3_HUMAN,Q8NBV5_HUMAN,C9J9W0_HUMAN		11	1616	-	Melanoma(164;0.059)		UPI000000D91B	467			Helical; (Potential).		SNV	TRPV6,missense_variant,p.Tyr467Phe,ENST00000359396,NM_018646.4;TRPV6,missense_variant,p.Tyr90Phe,ENST00000436401,;EPHB6,downstream_gene_variant,,ENST00000392957,NM_004445.4,NM_001280794.1;EPHB6,downstream_gene_variant,,ENST00000442129,;EPHB6,downstream_gene_variant,,ENST00000411471,NM_001280795.1;TRPV6,downstream_gene_variant,,ENST00000431833,;RP11-114L10.2,upstream_gene_variant,,ENST00000438839,;EPHB6,downstream_gene_variant,,ENST00000476059,;TRPV6,non_coding_transcript_exon_variant,,ENST00000487077,;TRPV6,non_coding_transcript_exon_variant,,ENST00000485138,;TRPV6,non_coding_transcript_exon_variant,,ENST00000463646,;EPHB6,downstream_gene_variant,,ENST00000466783,;EPHB6,downstream_gene_variant,,ENST00000425995,;EPHB6,downstream_gene_variant,,ENST00000422643,;EPHB6,downstream_gene_variant,,ENST00000486511,;TRPV6,downstream_gene_variant,,ENST00000489123,;TRPV6,downstream_gene_variant,,ENST00000474388,;EPHB6,downstream_gene_variant,,ENST00000471581,;	uc003wbx.1	c.1400A>T	1646/2928	2	2			c.1400A>T						7	SNP	c.(1399-1401)TAC>TTC	25	25			ovary(2)	2	Broad	transient receptor potential cation channel,			142572296		0.577	ENSG00000165125	16350	g.chr7:142572296T>A	regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding							134.989016	KEEP	28	36	-1	86	120	28	36	-1	152.226486	86	120	0.228346	1	0	0	0	0	1	0	0	0	--	--		0	A			TRPV6_uc003wbw.1_Missense_Mutation_p.Y253F|TRPV6_uc010lou.1_Missense_Mutation_p.Y338F	199	GBM-27-2519-TP	p.Y467F	T	TCGGGCGAAGTACATGACGTT	NM_018646	NP_061116	142572296	Q9H1D0	TRPV6_HUMAN	0			11	1616	-	A	A	Melanoma(164;0.059)		Missense_Mutation	467			Helical; (Potential).			
TRPV6	0	broad.mit.edu	GRCh37	7	142575507	142575507	+	synonymous_variant	Silent	SNP	C	C	T	rs145875993		TCGA-32-2494-01	TCGA-32-2494-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359396.3:c.246G>A	p.Ala82=	p.A82=	ENST00000359396	NM_018646.4	82	gcG/gcA	0	T:0		1			T	A	uc003wbx.1	protein_coding	YES	CCDS5874.1			246/2178									ovary(2)	2	c.(244-246)GCG>GCA			Prints_domain:PR01415,Prints_domain:PR01765,Superfamily_domains:SSF48403,SMART_domains:SM00248,TIGRFAM_domain:TIGR00870,Pfam_domain:PF12796,Gene3D:1.25.40.20,hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF21,PROSITE_profiles:PS50297	transient receptor potential cation channel,			T:0.0001	ENSP00000352358		15-Mar	1.65E-05					1.50E-05		6.06E-05	rs145875993,COSM3411698	15-Mar	.		ENST00000359396	Transcript			regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	ENSG00000165125	g.chr7:142575507C>T	14006			LOW								--	--	1																																		TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR	0,1	1			p.A82A	NM_018646	NP_061116			0,1	TRPV6_HUMAN	TRPV6	HGNC	Q9H1D0	TRPV6_HUMAN			Q9NXZ3_HUMAN,Q8NBV5_HUMAN,C9J9W0_HUMAN		3	462	-	Melanoma(164;0.059)		UPI000000D91B	82			Cytoplasmic (Potential).|ANK 2.		SNV	TRPV6,synonymous_variant,p.=,ENST00000359396,NM_018646.4;TRPV6,synonymous_variant,p.=,ENST00000431833,;TRPV6,intron_variant,,ENST00000436401,;RP11-114L10.2,intron_variant,,ENST00000438839,;TRPV6,non_coding_transcript_exon_variant,,ENST00000487077,;TRPV6,non_coding_transcript_exon_variant,,ENST00000489123,;TRPV6,upstream_gene_variant,,ENST00000485138,;TRPV6,upstream_gene_variant,,ENST00000463646,;TRPV6,upstream_gene_variant,,ENST00000474388,;	uc003wbx.1	c.246G>A	492/2928	1	1			c.246G>A						7	SNP	c.(244-246)GCG>GCA	2	2			ovary(2)	2	Broad	transient receptor potential cation channel,			142575507		0.562	ENSG00000165125	16350	g.chr7:142575507C>T	regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding							179.964599	KEEP	40	49	-1	139	166	40	49	-1	202.673472	139	166	0.226586	1	0	0	0	0	0	0	1	0	--	--		0	T			TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR	236	GBM-32-2494-TP	p.A82A	C	CTATGTGTAGCGCTGTTTCCC	NM_018646	NP_061116	142575507	Q9H1D0	TRPV6_HUMAN	0			3	462	-	T	T	Melanoma(164;0.059)		Silent	82			Cytoplasmic (Potential).|ANK 2.			
TRPV6	55503		GRCh37	7	142570125	142570125	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000359396.3:c.1895G>A	p.Arg632Gln	p.R632Q	ENST00000359396	NM_018646.4	632	cGg/cAg	0																																																																																																																																																																																																																																												
TRRAP	8295	broad.mit.edu	GRCh37	7	98552870	98552870	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0646-01	TCGA-06-0646-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359863.4:c.5859G>A	p.Glu1953=	p.E1953=	ENST00000359863	NM_001244580.1	1953	gaG/gaA	0			1			A	E	uc003upp.2	protein_coding	YES	CCDS59066.1			5859/11580								p.E1935E(1)	ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	c.(5857-5859)GAG>GAA			hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF1,Superfamily_domains:SSF48371	transformation/transcription domain-associated				ENSP00000352925		40/72									COSM42986,COSM2151306	40/72	.		ENST00000359863	Transcript			histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	ENSG00000196367	g.chr7:98552870G>A	12347			LOW								--	--	1																																		TRRAP_uc011kis.1_Silent_p.E1935E|TRRAP_uc003upr.2_Silent_p.E1652E	1,1	1			p.E1953E	NM_003496	NP_003487			1,1	TRRAP_HUMAN	TRRAP	HGNC	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		C9K0N1_HUMAN		40	6068	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		UPI00004575B4	1953					SNV	TRRAP,synonymous_variant,p.=,ENST00000359863,NM_001244580.1;TRRAP,synonymous_variant,p.=,ENST00000355540,NM_003496.3;TRRAP,synonymous_variant,p.=,ENST00000446306,;TRRAP,synonymous_variant,p.=,ENST00000456197,;	uc003upp.2	c.5859G>A	6068/12677	1	1			c.5859G>A						7	SNP	c.(5857-5859)GAG>GAA	56	56		p.E1935E(1)	ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	Broad	transformation/transcription domain-associated			98552870		0.642	ENSG00000196367	16351	g.chr7:98552870G>A	histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			1847			1847	74.838942	KEEP	20	13	-1	49	52	20	13	-1	82.281409	49	52	0.237288	1	0	0	0	0	0	0	1	0	--	--		0	A			TRRAP_uc011kis.1_Silent_p.E1935E|TRRAP_uc003upr.2_Silent_p.E1652E	60	GBM-06-0646-TP	p.E1953E	G	TTGTGGAGGAGGGGCACACCG	NM_003496	NP_003487	98552870	Q9Y4A5	TRRAP_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.215)		40	6068	+	A	A	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		Silent	1953						
TRRAP	0	broad.mit.edu	GRCh37	7	98522846	98522846	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-12-0616-01	TCGA-12-0616-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359863.4:c.2935G>C	p.Asp979His	p.D979H	ENST00000359863	NM_001244580.1	979	Gac/Cac	0			1			C	D/H	uc003upp.2	protein_coding	YES	CCDS59066.1			2935/11580									ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	c.(2935-2937)GAC>CAC			hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF1	transformation/transcription domain-associated				ENSP00000352925		22/72									COSM3412539,COSM3412540	22/72	.		ENST00000359863	Transcript			histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	ENSG00000196367	g.chr7:98522846G>C	12347			MODERATE		2.555	medium	getma.org/?cm=msa&ty=f&p=TRRAP_HUMAN&rb=801&re=1000&var=D979H	NA	getma.org/?cm=var&var=hg19,7,98522846,G,C&fts=all	D979H	--	--	1																																		TRRAP_uc011kis.1_Missense_Mutation_p.D979H|TRRAP_uc003upr.2_Missense_Mutation_p.D671H	1,1	1		probably_damaging(0.987)	p.D979H	NM_003496	NP_003487			1,1	TRRAP_HUMAN	TRRAP	HGNC	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		C9K0N1_HUMAN		22	3144	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		UPI00004575B4	979					SNV	TRRAP,missense_variant,p.Asp979His,ENST00000359863,NM_001244580.1;TRRAP,missense_variant,p.Asp979His,ENST00000355540,NM_003496.3;TRRAP,missense_variant,p.Asp978His,ENST00000446306,;TRRAP,missense_variant,p.Asp694His,ENST00000456197,;	uc003upp.2	c.2935G>C	3144/12677	3	3			c.2935G>C						7	SNP	c.(2935-2937)GAC>CAC	11	11			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	Broad	transformation/transcription domain-associated			98522846		0.567	ENSG00000196367	16351	g.chr7:98522846G>C	histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			1847			1847	41.75113	KEEP	17	15	-1	139	134	17	15	-1	81.581187	139	134	0.105058	1	0	0	0	0	1	0	0	0	--	--		0	C			TRRAP_uc011kis.1_Missense_Mutation_p.D979H|TRRAP_uc003upr.2_Missense_Mutation_p.D671H	118	GBM-12-0616-TP	p.D979H	G	GAGCCTGGAGGACAACAAGCA	NM_003496	NP_003487	98522846	Q9Y4A5	TRRAP_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.215)		22	3144	+	C	C	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		Missense_Mutation	979						
TRRAP	0	broad.mit.edu	GRCh37	7	98588209	98588209	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-4157-01	TCGA-14-4157-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359863.4:c.9735G>A	p.Ser3245=	p.S3245=	ENST00000359863	NM_001244580.1	3245	tcG/tcA	0			1			A	S	uc003upp.2	protein_coding	YES	CCDS59066.1			9735/11580									ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	c.(9733-9735)TCG>TCA			PROSITE_profiles:PS51189,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF1	transformation/transcription domain-associated				ENSP00000352925		63/72	2.47E-05			0.000116		1.50E-05		6.08E-05	rs557915803,COSM3412549,COSM3412550	63/72	.		ENST00000359863	Transcript			histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	ENSG00000196367	g.chr7:98588209G>A	12347			LOW								--	--	1																																		TRRAP_uc011kis.1_Silent_p.S3216S|TRRAP_uc003upr.2_Silent_p.S2933S	0,1,1	1			p.S3245S	NM_003496	NP_003487			0,1,1	TRRAP_HUMAN	TRRAP	HGNC	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		C9K0N1_HUMAN		63	9944	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		UPI00004575B4	3245			FAT.		SNV	TRRAP,synonymous_variant,p.=,ENST00000359863,NM_001244580.1;TRRAP,synonymous_variant,p.=,ENST00000355540,NM_003496.3;TRRAP,synonymous_variant,p.=,ENST00000446306,;TRRAP,synonymous_variant,p.=,ENST00000456197,;	uc003upp.2	c.9735G>A	9944/12677	1	1			c.9735G>A						7	SNP	c.(9733-9735)TCG>TCA	61	61			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	Broad	transformation/transcription domain-associated			98588209		0.527	ENSG00000196367	16351	g.chr7:98588209G>A	histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			1847			1847	92.472447	KEEP	17	17	-1	38	45	17	17	-1	96.770713	38	45	0.290909	1	0	0	0	0	0	0	1	0	--	--		0	A			TRRAP_uc011kis.1_Silent_p.S3216S|TRRAP_uc003upr.2_Silent_p.S2933S	152	GBM-14-4157-TP	p.S3245S	G	TGGTTGGCTCGGAGGGAAAGC	NM_003496	NP_003487	98588209	Q9Y4A5	TRRAP_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.215)		63	9944	+	A	A	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		Silent	3245			FAT.			
TRRAP	0	broad.mit.edu	GRCh37	7	98580929	98580935	+	frameshift_variant	Frame_Shift_Del	DEL	AACGCAG	AACGCAG	-			TCGA-27-1833-01	TCGA-27-1833-01	AACGCAG	AACGCAG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359863.4:c.8848_8854delAACGCAG	p.Asn2950AlafsTer16	p.N2950Afs*16	ENST00000359863	NM_001244580.1	2950	AACGCAGgc/gc	0			1			-	NAG/X	uc003upp.2	protein_coding	YES	CCDS59066.1			8848-8854/11580									ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	c.(8848-8856)AACGCAGGCfs			Pfam_domain:PF02259,PROSITE_profiles:PS51189,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF1	transformation/transcription domain-associated				ENSP00000352925		59/72										59/72	.		ENST00000359863	Transcript			histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	ENSG00000196367	g.chr7:98580929_98580935delAACGCAG	12347			HIGH								--	--	1																																		TRRAP_uc011kis.1_Frame_Shift_Del_p.N2932fs|TRRAP_uc003upr.2_Frame_Shift_Del_p.N2649fs		1			p.N2950fs	NM_003496	NP_003487				TRRAP_HUMAN	TRRAP	HGNC	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		C9K0N1_HUMAN		59	9057_9063	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		UPI00004575B4	2950_2952			FAT.		deletion	TRRAP,frameshift_variant,p.Asn2950AlafsTer16,ENST00000359863,NM_001244580.1;TRRAP,frameshift_variant,p.Asn2932AlafsTer16,ENST00000355540,NM_003496.3;TRRAP,frameshift_variant,p.Asn2932AlafsTer16,ENST00000446306,;TRRAP,frameshift_variant,p.Asn2672AlafsTer16,ENST00000456197,;	uc003upp.2	c.8848_8854delAACGCAG	9057-9063/12677	5	5			c.8848_8854delAACGCAG						7	DEL	c.(8848-8856)AACGCAGGCfs	34	34			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	Broad	transformation/transcription domain-associated			98580935		0.522	ENSG00000196367	16351	g.chr7:98580929_98580935delAACGCAG	histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			1847			1847														0.22	1	1	0	1	0	0	0	0	0	--	--		0	-			TRRAP_uc011kis.1_Frame_Shift_Del_p.N2932fs|TRRAP_uc003upr.2_Frame_Shift_Del_p.N2649fs	192	GBM-27-1833-TP	p.N2950fs	AACGCAG	TGCACAAATCAACGCAGGCTTACAGCC	NM_003496	NP_003487	98580929	Q9Y4A5	TRRAP_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.215)		59	9057_9063	+	-	-	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		Frame_Shift_Del	2950_2952			FAT.			
TRRAP	0	broad.mit.edu	GRCh37	7	98554147	98554147	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-1834-01	TCGA-27-1834-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359863.4:c.6201C>T	p.Ala2067=	p.A2067=	ENST00000359863	NM_001244580.1	2067	gcC/gcT	0			1			T	A	uc003upp.2	protein_coding	YES	CCDS59066.1			6201/11580									ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	c.(6199-6201)GCC>GCT			hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF1	transformation/transcription domain-associated				ENSP00000352925		42/72									COSM3412543,COSM3412544	42/72	.		ENST00000359863	Transcript			histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	ENSG00000196367	g.chr7:98554147C>T	12347			LOW								--	--	1																																		TRRAP_uc011kis.1_Silent_p.A2049A|TRRAP_uc003upr.2_Silent_p.A1766A	1,1	1			p.A2067A	NM_003496	NP_003487			1,1	TRRAP_HUMAN	TRRAP	HGNC	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		C9K0N1_HUMAN		42	6410	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		UPI00004575B4	2067			Interaction with TP53.		SNV	TRRAP,synonymous_variant,p.=,ENST00000359863,NM_001244580.1;TRRAP,synonymous_variant,p.=,ENST00000355540,NM_003496.3;TRRAP,synonymous_variant,p.=,ENST00000446306,;TRRAP,synonymous_variant,p.=,ENST00000456197,;	uc003upp.2	c.6201C>T	6410/12677	2	2			c.6201C>T						7	SNP	c.(6199-6201)GCC>GCT	42	42			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	Broad	transformation/transcription domain-associated			98554147		0.512	ENSG00000196367	16351	g.chr7:98554147C>T	histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			1847			1847	-11.392389	KEEP	11	5	-1	120	124	11	5	-1	33.708765	120	124	0.068376	1	0	0	0	0	0	0	1	0	--	--		0	T			TRRAP_uc011kis.1_Silent_p.A2049A|TRRAP_uc003upr.2_Silent_p.A1766A	193	GBM-27-1834-TP	p.A2067A	C	CCACCGGAGCCATCAGTGCAG	NM_003496	NP_003487	98554147	Q9Y4A5	TRRAP_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.215)		42	6410	+	T	T	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		Silent	2067			Interaction with TP53.			
TRRAP	0	broad.mit.edu	GRCh37	7	98567836	98567836	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-1834-01	TCGA-27-1834-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359863.4:c.7593C>T	p.His2531=	p.H2531=	ENST00000359863	NM_001244580.1	2531	caC/caT	0			1			T	H	uc003upp.2	protein_coding	YES	CCDS59066.1			7593/11580									ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	c.(7591-7593)CAC>CAT			hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF1	transformation/transcription domain-associated				ENSP00000352925		51/72									COSM3412545,COSM3412546	51/72	.		ENST00000359863	Transcript			histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	ENSG00000196367	g.chr7:98567836C>T	12347			LOW								--	--	1																																		TRRAP_uc011kis.1_Silent_p.H2513H|TRRAP_uc003upr.2_Silent_p.H2230H	1,1	1			p.H2531H	NM_003496	NP_003487			1,1	TRRAP_HUMAN	TRRAP	HGNC	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		C9K0N1_HUMAN		51	7802	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		UPI00004575B4	2531					SNV	TRRAP,synonymous_variant,p.=,ENST00000359863,NM_001244580.1;TRRAP,synonymous_variant,p.=,ENST00000355540,NM_003496.3;TRRAP,synonymous_variant,p.=,ENST00000446306,;TRRAP,synonymous_variant,p.=,ENST00000456197,;	uc003upp.2	c.7593C>T	7802/12677	2	2			c.7593C>T						7	SNP	c.(7591-7593)CAC>CAT	21	21			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	Broad	transformation/transcription domain-associated			98567836		0.632	ENSG00000196367	16351	g.chr7:98567836C>T	histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			1847			1847	-7.385201	KEEP	4	6	-1	103	127	4	6	-1	16.503417	103	127	0.065574	1	0	0	0	0	0	0	1	0	--	--		0	T			TRRAP_uc011kis.1_Silent_p.H2513H|TRRAP_uc003upr.2_Silent_p.H2230H	193	GBM-27-1834-TP	p.H2531H	C	CCGATAGCCACGACCGTGCCG	NM_003496	NP_003487	98567836	Q9Y4A5	TRRAP_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.215)		51	7802	+	T	T	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		Silent	2531						
TRRAP	0	broad.mit.edu	GRCh37	7	98509724	98509724	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2524-01	TCGA-27-2524-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359863.4:c.2087G>A	p.Arg696His	p.R696H	ENST00000359863	NM_001244580.1	696	cGc/cAc	0	A:0		1			A	R/H	uc003upp.2	protein_coding	YES	CCDS59066.1			2087/11580									ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	c.(2086-2088)CGC>CAC			hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF1	transformation/transcription domain-associated			A:0.0001	ENSP00000352925		18/72	9.06E-05		8.64E-05			0.00015			rs200324989,COSM1673336,COSM1673337	18/72	.		ENST00000359863	Transcript			histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	ENSG00000196367	g.chr7:98509724G>A	12347			MODERATE		1.455	low	getma.org/?cm=msa&ty=f&p=TRRAP_HUMAN&rb=601&re=800&var=R696H	NA	getma.org/?cm=var&var=hg19,7,98509724,G,A&fts=all	R696H	--	--	1																																		TRRAP_uc011kis.1_Missense_Mutation_p.R696H|TRRAP_uc003upr.2_Missense_Mutation_p.R388H	0,1,1	1		benign(0.286)	p.R696H	NM_003496	NP_003487			0,1,1	TRRAP_HUMAN	TRRAP	HGNC	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		C9K0N1_HUMAN		18	2296	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		UPI00004575B4	696					SNV	TRRAP,missense_variant,p.Arg696His,ENST00000359863,NM_001244580.1;TRRAP,missense_variant,p.Arg696His,ENST00000355540,NM_003496.3;TRRAP,missense_variant,p.Arg695His,ENST00000446306,;TRRAP,missense_variant,p.Arg411His,ENST00000456197,;	uc003upp.2	c.2087G>A	2296/12677	1	1			c.2087G>A						7	SNP	c.(2086-2088)CGC>CAC	60	60			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	Broad	transformation/transcription domain-associated			98509724		0.468	ENSG00000196367	16351	g.chr7:98509724G>A	histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity		p.R696H(PC3-Tumor)	1847		p.R696H(PC3-Tumor)	1847	219.076105	KEEP	45	49	-1	153	139	45	49	-1	240.348512	153	139	0.246575	1	0	0	0	0	1	0	0	0	--	--		0	A			TRRAP_uc011kis.1_Missense_Mutation_p.R696H|TRRAP_uc003upr.2_Missense_Mutation_p.R388H	202	GBM-27-2524-TP	p.R696H	G	CTCCTTGATCGCCTGCCAGAA	NM_003496	NP_003487	98509724	Q9Y4A5	TRRAP_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.215)		18	2296	+	A	A	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		Missense_Mutation	696						
TRRAP	0	broad.mit.edu	GRCh37	7	98609721	98609721	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01	TCGA-28-5204-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359863.4:c.11323C>T	p.Arg3775Trp	p.R3775W	ENST00000359863	NM_001244580.1	3775	Cgg/Tgg	0			1			T	R/W	uc003upp.2	protein_coding	YES	CCDS59066.1			11323/11580									ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	c.(11323-11325)CGG>TGG			Gene3D:1.10.1070.11,Pfam_domain:PF00454,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF1,SMART_domains:SM00146,Superfamily_domains:SSF56112	transformation/transcription domain-associated				ENSP00000352925		72/72									COSM3412551,COSM3412552	72/72	.		ENST00000359863	Transcript			histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	ENSG00000196367	g.chr7:98609721C>T	12347			MODERATE		3.225	medium	getma.org/?cm=msa&ty=f&p=TRRAP_HUMAN&rb=3526&re=3783&var=R3775W	NA	getma.org/?cm=var&var=hg19,7,98609721,C,T&fts=all	R3775W	--	--	1																																		TRRAP_uc011kis.1_Missense_Mutation_p.R3746W|TRRAP_uc003upr.2_Missense_Mutation_p.R3481W|TRRAP_uc003ups.2_5'Flank	1,1	1		probably_damaging(0.999)	p.R3775W	NM_003496	NP_003487			1,1	TRRAP_HUMAN	TRRAP	HGNC	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		C9K0N1_HUMAN		72	11532	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		UPI00004575B4	3775			PI3K/PI4K.		SNV	TRRAP,missense_variant,p.Arg3775Trp,ENST00000359863,NM_001244580.1;TRRAP,missense_variant,p.Arg3746Trp,ENST00000355540,NM_003496.3;TRRAP,missense_variant,p.Arg3764Trp,ENST00000446306,;TRRAP,missense_variant,p.Arg3504Trp,ENST00000456197,;AC004893.11,upstream_gene_variant,,ENST00000360902,;	uc003upp.2	c.11323C>T	11532/12677	1	1			c.11323C>T						7	SNP	c.(11323-11325)CGG>TGG	7	7			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	Broad	transformation/transcription domain-associated			98609721		0.547	ENSG00000196367	16351	g.chr7:98609721C>T	histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			1847			1847	66.942379	KEEP	21	18	-1	76	81	21	18	-1	81.14629	76	81	0.192547	1	0	0	0	0	1	0	0	0	--	--		0	T			TRRAP_uc011kis.1_Missense_Mutation_p.R3746W|TRRAP_uc003upr.2_Missense_Mutation_p.R3481W|TRRAP_uc003ups.2_5'Flank	215	GBM-28-5204-TP	p.R3775W	C	AACGGTTCTCCGGGACGAGAT	NM_003496	NP_003487	98609721	Q9Y4A5	TRRAP_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.215)		72	11532	+	T	T	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		Missense_Mutation	3775			PI3K/PI4K.			
TSC1	7248	broad.mit.edu	GRCh37	9	135804224	135804224	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298552.3:c.36C>A	p.Ala12=	p.A12=	ENST00000298552	NM_001162426.1	12	gcC/gcA	0			1			T	A	uc004cca.2	protein_coding	YES	CCDS6956.1			36/3495	D|Mis|N|F|S			hamartoma|renal cell				p.A12A(1)	lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14	c.(34-36)GCC>GCA			Pfam_domain:PF04388,hmmpanther:PTHR15154	tuberous sclerosis 1 protein isoform 1				ENSP00000298552		23-Mar									COSM35404	23-Mar	.	Tuberous_Sclerosis	ENST00000298552	Transcript	1		activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	ENSG00000165699	g.chr9:135804224G>T	12362			LOW								--	--	1																																		TSC1_uc004ccb.3_Silent_p.A12A|TSC1_uc011mcq.1_Silent_p.A12A|TSC1_uc011mcr.1_Intron|TSC1_uc011mcs.1_5'UTR|TSC1_uc004ccc.1_Silent_p.A12A|TSC1_uc004ccd.2_Silent_p.A12A|TSC1_uc004cce.1_Silent_p.A12A	1	1			p.A12A	NM_000368	NP_000359			1	TSC1_HUMAN	TSC1	HGNC	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)			3	270	-			UPI000013773E	12					SNV	TSC1,synonymous_variant,p.=,ENST00000298552,NM_001162426.1,NM_001162427.1,NM_000368.4;TSC1,synonymous_variant,p.=,ENST00000440111,;TSC1,synonymous_variant,p.=,ENST00000545250,;TSC1,synonymous_variant,p.=,ENST00000403810,;TSC1,non_coding_transcript_exon_variant,,ENST00000475903,;TSC1,non_coding_transcript_exon_variant,,ENST00000490179,;TSC1,non_coding_transcript_exon_variant,,ENST00000493467,;	uc004cca.2	c.36C>A	258/8604	2	2			c.36C>A	D|Mis|N|F|S			hamartoma|renal cell		9	SNP	c.(34-36)GCC>GCA	35	35		p.A12A(1)	lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14	Broad	tuberous sclerosis 1 protein isoform 1			135804224	Tuberous_Sclerosis	0.502	ENSG00000165699	16355	g.chr9:135804224G>T	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding			536			536	91.896305	KEEP	21	18	0.538461538	47	65	21	18	0.538461538	98.081237	47	65	0.267717	1	0	0	0	0	0	0	1	0	--	--		0	T			TSC1_uc004ccb.3_Silent_p.A12A|TSC1_uc011mcq.1_Silent_p.A12A|TSC1_uc011mcr.1_Intron|TSC1_uc011mcs.1_5'UTR|TSC1_uc004ccc.1_Silent_p.A12A|TSC1_uc004ccd.2_Silent_p.A12A|TSC1_uc004cce.1_Silent_p.A12A	18	GBM-06-0137-TP	p.A12A	G	AGTCCAGCATGGCAAGAAGCT	NM_000368	NP_000359	135804224	Q92574	TSC1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	3	270	-	T	T			Silent	12						
TSC2	0	broad.mit.edu	GRCh37	16	2134267	2134267	+	missense_variant	Missense_Mutation	SNP	C	C	A	rs137854084		TCGA-32-1991-01	TCGA-32-1991-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000219476.3:c.4044C>A	p.His1348Gln	p.H1348Q	ENST00000219476	NM_000548.3	1348	caC/caA	0			1			A	H/Q	uc002con.2	protein_coding	YES	CCDS10458.1			4044/5424	D|Mis|N|F|S			hamartoma|renal cell					central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10	c.(4042-4044)CAC>CAA			hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF1	tuberous sclerosis 2 isoform 1				ENSP00000219476		34/42									COSM3402163,COSM3402164	34/42	.	Tuberous_Sclerosis	ENST00000219476	Transcript	1		cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	ENSG00000103197	g.chr16:2134267C>A	12363			MODERATE		-0.205	neutral	getma.org/?cm=msa&ty=f&p=TSC2_HUMAN&rb=1242&re=1444&var=H1348Q	NA	getma.org/?cm=var&var=hg19,16,2134267,C,A&fts=all	H1348Q	--	--	1																																		TSC2_uc010bsd.2_Missense_Mutation_p.H1325Q|TSC2_uc002coo.2_Missense_Mutation_p.H1281Q|TSC2_uc010uvv.1_Missense_Mutation_p.H1245Q|TSC2_uc010uvw.1_Missense_Mutation_p.H1233Q|TSC2_uc002cop.2_Missense_Mutation_p.H1104Q|TSC2_uc002coq.2_Missense_Mutation_p.H123Q|TSC2_uc002cor.2_Missense_Mutation_p.H49Q	1,1	1		benign(0.002)	p.H1348Q	NM_000548	NP_000539		tolerated_low_confidence(0.4)	1,1	TSC2_HUMAN	TSC2	HGNC	P49815	TSC2_HUMAN					34	4150	+		Hepatocellular(780;0.0202)	UPI000013C781	1348					SNV	TSC2,missense_variant,p.His1348Gln,ENST00000219476,NM_000548.3;TSC2,missense_variant,p.His1325Gln,ENST00000350773,NM_001114382.1;TSC2,missense_variant,p.His1305Gln,ENST00000353929,;TSC2,missense_variant,p.His1292Gln,ENST00000568454,;TSC2,missense_variant,p.His1281Gln,ENST00000401874,NM_001077183.1;TSC2,missense_variant,p.His1245Gln,ENST00000439673,;TSC2,missense_variant,p.His1233Gln,ENST00000382538,;TSC2,missense_variant,p.His76Gln,ENST00000569110,;PKD1,downstream_gene_variant,,ENST00000262304,NM_001009944.2;PKD1,downstream_gene_variant,,ENST00000423118,NM_000296.3;TSC2,downstream_gene_variant,,ENST00000568366,;TSC2,3_prime_UTR_variant,,ENST00000439117,;TSC2,non_coding_transcript_exon_variant,,ENST00000497886,;TSC2,non_coding_transcript_exon_variant,,ENST00000569930,;TSC2,downstream_gene_variant,,ENST00000471143,;TSC2,downstream_gene_variant,,ENST00000483020,;TSC2,downstream_gene_variant,,ENST00000561695,;	uc002con.2	c.4044C>A	4674/6156	2	2			c.4044C>A	D|Mis|N|F|S			hamartoma|renal cell		16	SNP	c.(4042-4044)CAC>CAA	28	28			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10	Broad	tuberous sclerosis 2 isoform 1			2134267	Tuberous_Sclerosis	0.657	ENSG00000103197	16356	g.chr16:2134267C>A	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			1098			1098	2.59959	KEEP	4	0	-1	11	21	4	0	-1	8.166322	11	21	0.090909	1	0	0	0	0	1	0	0	0	--	--		0	A			TSC2_uc010bsd.2_Missense_Mutation_p.H1325Q|TSC2_uc002coo.2_Missense_Mutation_p.H1281Q|TSC2_uc010uvv.1_Missense_Mutation_p.H1245Q|TSC2_uc010uvw.1_Missense_Mutation_p.H1233Q|TSC2_uc002cop.2_Missense_Mutation_p.H1104Q|TSC2_uc002coq.2_Missense_Mutation_p.H123Q|TSC2_uc002cor.2_Missense_Mutation_p.H49Q	234	GBM-32-1991-TP	p.H1348Q	C	AGTCGCTCCACGCGGAGGAGC	NM_000548	NP_000539	2134267	P49815	TSC2_HUMAN	0			34	4150	+	A	A		Hepatocellular(780;0.0202)	Missense_Mutation	1348						
TSC2	7249		GRCh37	16	2120552	2120552	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000219476.3:c.1812del	p.Pro605GlnfsTer93	p.P605Qfs*93	ENST00000219476	NM_000548.3	604	ctG/ct	0																																																																																																																																																																																																																																												
TSC22D1	8848		GRCh37	13	45148388	45148388	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000458659.2:c.1823C>A	p.Ser608Tyr	p.S608Y	ENST00000458659	NM_183422.3	608	tCt/tAt	0																																																																																																																																																																																																																																												
TSGA10IP	254187		GRCh37	11	65714723	65714723	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000532620.1:n.658C>T		p.*220*	ENST00000532620				0																																																																																																																																																																																																																																												
TSGA13	114960	broad.mit.edu	GRCh37	7	130365809	130365809	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01	TCGA-06-0219-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000456951.1:c.149G>A	p.Arg50Gln	p.R50Q	ENST00000456951		50	cGg/cAg	0		T:0	1	T:0		T	R/Q	uc003vqi.2	protein_coding		CCDS5824.1			149/828									ovary(2)	2	c.(148-150)CGG>CAG			Pfam_domain:PF14994	testis specific, 13		T:0		ENSP00000348996	T:0	8-Apr	3.29E-05			0.000116		1.50E-05		0.000121	rs571780213,COSM2150985	8-Apr	.		ENST00000356588	Transcript		T:0.0002				ENSG00000213265	g.chr7:130365809C>T	12369			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=TSG13_HUMAN&rb=9&re=219&var=R50Q	NA	getma.org/?cm=var&var=hg19,7,130365809,C,T&fts=all	R50Q	--	--	1																																		TSGA13_uc003vqj.2_Missense_Mutation_p.R50Q	0,1			benign(0.002)	p.R50Q	NM_052933	NP_443165	T:0.001	tolerated(0.62)	0,1	TSG13_HUMAN	TSGA13	HGNC	Q96PP4	TSG13_HUMAN			C9JVS7_HUMAN,C9JIG7_HUMAN		4	606	-	Melanoma(18;0.0435)		UPI0000073CFB	50					SNV	TSGA13,missense_variant,p.Arg50Gln,ENST00000456951,;TSGA13,missense_variant,p.Arg50Gln,ENST00000356588,NM_052933.2;TSGA13,missense_variant,p.Arg50Gln,ENST00000438346,;TSGA13,missense_variant,p.Arg50Gln,ENST00000443954,;	uc003vqi.2	c.149G>A	606/1372	1	1			c.149G>A						7	SNP	c.(148-150)CGG>CAG	3	3			ovary(2)	2	Broad	testis specific, 13			130365809		0.433	ENSG00000213265	16369	g.chr7:130365809C>T										114.768271	KEEP	27	20	-1	64	71	27	20	-1	122.287888	64	71	0.264901	1	0	0	0	0	1	0	0	0	--	--		0	T			TSGA13_uc003vqj.2_Missense_Mutation_p.R50Q	52	GBM-06-0219-TP	p.R50Q	C	TGTGTAATGCCGAAGGTTCTC	NM_052933	NP_443165	130365809	Q96PP4	TSG13_HUMAN	0			4	606	-	T	T	Melanoma(18;0.0435)		Missense_Mutation	50						
TSGA13	0	broad.mit.edu	GRCh37	7	130357671	130357671	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356588.3:c.433C>T	p.Arg145Cys	p.R145C	ENST00000356588	NM_052933.2	145	Cgc/Tgc	0			1			A	R/C	uc003vqi.2	protein_coding		CCDS5824.1			433/828									ovary(2)	2	c.(433-435)CGC>TGC			Pfam_domain:PF14994	testis specific, 13				ENSP00000348996		8-Jun	8.24E-06		8.66E-05						rs782318160,COSM2157499	8-Jun	.		ENST00000356588	Transcript						ENSG00000213265	g.chr7:130357671G>A	12369			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TSG13_HUMAN&rb=9&re=219&var=R145C	NA	getma.org/?cm=var&var=hg19,7,130357671,G,A&fts=all	R145C	--	--	1																																		TSGA13_uc003vqj.2_Missense_Mutation_p.R145C	0,1			benign(0.068)	p.R145C	NM_052933	NP_443165		tolerated(0.07)	0,1	TSG13_HUMAN	TSGA13	HGNC	Q96PP4	TSG13_HUMAN			C9JVS7_HUMAN,C9JIG7_HUMAN		6	890	-	Melanoma(18;0.0435)		UPI0000073CFB	145					SNV	TSGA13,missense_variant,p.Arg145Cys,ENST00000456951,;TSGA13,missense_variant,p.Arg145Cys,ENST00000356588,NM_052933.2;COPG2,upstream_gene_variant,,ENST00000445977,;COPG2,upstream_gene_variant,,ENST00000330992,;	uc003vqi.2	c.433C>T	890/1372	1	1			c.433C>T						7	SNP	c.(433-435)CGC>TGC	52	52			ovary(2)	2	Broad	testis specific, 13			130357671		0.473	ENSG00000213265	16369	g.chr7:130357671G>A										134.254405	KEEP	22	32	-1	60	67	22	32	-1	141.111386	60	67	0.284848	1	0	0	0	0	1	0	0	0	--	--		0	A			TSGA13_uc003vqj.2_Missense_Mutation_p.R145C	265	GBM-76-4925-TP	p.R145C	G	TGAGGCATGCGGGGCAGCCAG	NM_052933	NP_443165	130357671	Q96PP4	TSG13_HUMAN	0			6	890	-	A	A	Melanoma(18;0.0435)		Missense_Mutation	145						
TSHR	0	broad.mit.edu	GRCh37	14	81610025	81610025	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-5208-01	TCGA-28-5208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000541158.2:c.1623C>T	p.Ile541=	p.I541=	ENST00000541158		541	atC/atT	0			1			T	I	uc001xvd.1	protein_coding	YES	CCDS9872.1			1623/2295	Mis	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism		thyroid  adenoma	toxic thyroid adenoma				thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299	c.(1621-1623)ATC>ATT			Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24372,hmmpanther:PTHR24372:SF0,PROSITE_profiles:PS50262	thyroid stimulating hormone receptor isoform 1	Thyrotropin Alfa(DB00024)			ENSP00000441235		11-Nov									COSM3401490	11-Nov	.		ENST00000541158	Transcript	1		cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	ENSG00000165409	g.chr14:81610025C>T	12373			LOW								--	--	1																																			1	1			p.I541I	NM_000369	NP_000360			1		TSHR	HGNC	P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	Q0VAP8_HUMAN,F5GYU5_HUMAN		10	1779	+			UPI000013E4A2	541			Helical; Name=4; (Potential).		SNV	TSHR,synonymous_variant,p.=,ENST00000541158,;TSHR,synonymous_variant,p.=,ENST00000298171,NM_000369.2;RP11-114N19.3,intron_variant,,ENST00000557775,;	uc001xvd.1	c.1623C>T	1945/4566	2	2			c.1623C>T	Mis	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism		thyroid  adenoma	toxic thyroid adenoma	14	SNP	c.(1621-1623)ATC>ATT	41	41			thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299	Broad	thyroid stimulating hormone receptor isoform 1		Thyrotropin Alfa(DB00024)	81610025		0.587	ENSG00000165409	16372	g.chr14:81610025C>T	cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			868			868	254.305096	KEEP	34	55	-1	59	65	34	55	-1	255.598913	59	65	0.415459	1	0	0	0	0	0	0	1	0	--	--		0	T				217	GBM-28-5208-TP	p.I541I	C	CATGTGCCATCATGGTTGGGG	NM_000369	NP_000360	81610025	P16473	TSHR_HUMAN	0		BRCA - Breast invasive adenocarcinoma(234;0.0402)	10	1779	+	T	T			Silent	541			Helical; Name=4; (Potential).			
TSHZ2	128553	broad.mit.edu	GRCh37	20	51872260	51872260	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-0003-01	TCGA-02-0003-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371497.5:c.2263C>T	p.Arg755Cys	p.R755C	ENST00000371497	NM_173485.5	755	Cgc/Tgc	0			1			T	R/C	uc002xwo.2	protein_coding	YES	CCDS33490.1			2263/3105									ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6	c.(2263-2265)CGC>TGC			hmmpanther:PTHR12487:SF3,hmmpanther:PTHR12487	teashirt zinc finger homeobox 2				ENSP00000360552		3-Feb	8.24E-06					1.52E-05			rs779892655,COSM2148926	3-Feb	.		ENST00000371497	Transcript			multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000182463	g.chr20:51872260C>T	13010			MODERATE		2.08	medium	getma.org/?cm=msa&ty=f&p=TSH2_HUMAN&rb=620&re=819&var=R755C	NA	getma.org/?cm=var&var=hg19,20,51872260,C,T&fts=all	R755C	--	--	1																																			0,1	1		benign(0.004)	p.R755C	NM_173485	NP_775756		tolerated(0.06)	0,1	TSH2_HUMAN	TSHZ2	HGNC	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		S4R3C8_HUMAN		2	3219	+			UPI0000206747	755					SNV	TSHZ2,missense_variant,p.Arg755Cys,ENST00000371497,NM_173485.5,NM_001193421.1;TSHZ2,missense_variant,p.Arg752Cys,ENST00000603338,;TSHZ2,missense_variant,p.Arg752Cys,ENST00000329613,;RP4-678D15.1,downstream_gene_variant,,ENST00000606932,;TSHZ2,upstream_gene_variant,,ENST00000605656,;	uc002xwo.2	c.2263C>T	3150/12187	2	2			c.2263C>T						20	SNP	c.(2263-2265)CGC>TGC	21	21			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6	Broad	teashirt zinc finger homeobox 2			51872260		0.512	ENSG00000182463	16374	g.chr20:51872260C>T	multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							165.502452	KEEP	34	44	-1	45	70	34	44	-1	166.995969	45	70	0.396226	1	0	0	0	0	1	0	0	0	--	--		0	T				1	GBM-02-0003-TP	p.R755C	C	CGTGTCCAGGCGCTACCTGTT	NM_173485	NP_775756	51872260	Q9NRE2	TSH2_HUMAN	0	STAD - Stomach adenocarcinoma(23;0.1)		2	3219	+	T	T			Missense_Mutation	755						
TSHZ2	128553	broad.mit.edu	GRCh37	20	51871857	51871857	+	synonymous_variant	Silent	SNP	C	C	T	rs143642849		TCGA-06-0122-01	TCGA-06-0122-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371497.5:c.1860C>T	p.His620=	p.H620=	ENST00000371497	NM_173485.5	620	caC/caT	0	A:0.0002		1			T	H	uc002xwo.2	protein_coding	YES	CCDS33490.1			1860/3105									ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6	c.(1858-1860)CAC>CAT			hmmpanther:PTHR12487:SF3,hmmpanther:PTHR12487	teashirt zinc finger homeobox 2			A:0	ENSP00000360552		3-Feb	1.65E-05					3.01E-05			rs143642849,COSM2149196	3-Feb	.		ENST00000371497	Transcript			multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000182463	g.chr20:51871857C>T	13010			LOW								--	--	1																																			0,1	1			p.H620H	NM_173485	NP_775756			0,1	TSH2_HUMAN	TSHZ2	HGNC	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		S4R3C8_HUMAN		2	2816	+			UPI0000206747	620					SNV	TSHZ2,synonymous_variant,p.=,ENST00000371497,NM_173485.5,NM_001193421.1;TSHZ2,synonymous_variant,p.=,ENST00000603338,;TSHZ2,synonymous_variant,p.=,ENST00000329613,;RP4-678D15.1,downstream_gene_variant,,ENST00000606932,;TSHZ2,upstream_gene_variant,,ENST00000605656,;	uc002xwo.2	c.1860C>T	2747/12187	1	1			c.1860C>T						20	SNP	c.(1858-1860)CAC>CAT	8	8			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6	Broad	teashirt zinc finger homeobox 2			51871857		0.517	ENSG00000182463	16374	g.chr20:51871857C>T	multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							49.230594	KEEP	15	10	-1	43	59	15	10	-1	60.099012	43	59	0.193548	1	0	0	0	0	0	0	1	0	--	--		0	T				10	GBM-06-0122-TP	p.H620H	C	AAAGTCCCCACGAAGAGGCCT	NM_173485	NP_775756	51871857	Q9NRE2	TSH2_HUMAN	0	STAD - Stomach adenocarcinoma(23;0.1)		2	2816	+	T	T			Silent	620						
TSHZ2	128553	broad.mit.edu	GRCh37	20	51870755	51870755	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs141985599		TCGA-06-0650-01	TCGA-06-0650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371497.5:c.758C>T	p.Thr253Met	p.T253M	ENST00000371497	NM_173485.5	253	aCg/aTg	0	T:0.0005	T:0.0008	1	T:0		T	T/M	uc002xwo.2	protein_coding	YES	CCDS33490.1			758/3105									ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6	c.(757-759)ACG>ATG			hmmpanther:PTHR12487:SF3,hmmpanther:PTHR12487	teashirt zinc finger homeobox 2		T:0	T:0.0001	ENSP00000360552	T:0	3-Feb	5.77E-05	0.000481				3.00E-05			rs141985599,COSM2763403	3-Feb	common_variant		ENST00000371497	Transcript		T:0.0002	multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000182463	g.chr20:51870755C>T	13010			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TSH2_HUMAN&rb=252&re=315&var=T253M	getma.org/pdb.php?prot=TSH2_HUMAN&from=252&to=315&var=T253M	getma.org/?cm=var&var=hg19,20,51870755,C,T&fts=all	T253M	--	--	1																																			0,1	1		benign(0.413)	p.T253M	NM_173485	NP_775756	T:0	deleterious(0)	0,1	TSH2_HUMAN	TSHZ2	HGNC	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		S4R3C8_HUMAN		2	1714	+			UPI0000206747	253					SNV	TSHZ2,missense_variant,p.Thr253Met,ENST00000371497,NM_173485.5,NM_001193421.1;TSHZ2,missense_variant,p.Thr250Met,ENST00000603338,;TSHZ2,missense_variant,p.Thr250Met,ENST00000329613,;RP4-678D15.1,downstream_gene_variant,,ENST00000606932,;TSHZ2,upstream_gene_variant,,ENST00000605656,;	uc002xwo.2	c.758C>T	1645/12187	2	2			c.758C>T						20	SNP	c.(757-759)ACG>ATG	18	18			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6	Broad	teashirt zinc finger homeobox 2			51870755		0.488	ENSG00000182463	16374	g.chr20:51870755C>T	multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							10.555236	KEEP	4	5	-1	30	29	4	5	-1	19.106996	30	29	0.126984	1	0	0	0	0	1	0	0	0	--	--		0	T				63	GBM-06-0650-TP	p.T253M	C	CTCAGACCCACGAGCTATTCA	NM_173485	NP_775756	51870755	Q9NRE2	TSH2_HUMAN	0	STAD - Stomach adenocarcinoma(23;0.1)		2	1714	+	T	T			Missense_Mutation	253						
TSHZ2	0	broad.mit.edu	GRCh37	20	51870294	51870294	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6698-01	TCGA-06-6698-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371497.5:c.297C>T	p.Cys99=	p.C99=	ENST00000371497	NM_173485.5	99	tgC/tgT	0	T:0		1			T	C	uc002xwo.2	protein_coding	YES	CCDS33490.1			297/3105									ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6	c.(295-297)TGC>TGT			hmmpanther:PTHR12487:SF3,hmmpanther:PTHR12487	teashirt zinc finger homeobox 2			T:0.0001	ENSP00000360552		3-Feb	8.24E-06					1.50E-05			rs371445975,COSM3405212	3-Feb	.		ENST00000371497	Transcript			multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000182463	g.chr20:51870294C>T	13010			LOW								--	--	1																																			0,1	1			p.C99C	NM_173485	NP_775756			0,1	TSH2_HUMAN	TSHZ2	HGNC	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		S4R3C8_HUMAN		2	1253	+			UPI0000206747	99					SNV	TSHZ2,synonymous_variant,p.=,ENST00000371497,NM_173485.5,NM_001193421.1;TSHZ2,synonymous_variant,p.=,ENST00000603338,;TSHZ2,synonymous_variant,p.=,ENST00000329613,;RP4-678D15.1,downstream_gene_variant,,ENST00000606932,;TSHZ2,upstream_gene_variant,,ENST00000605656,;	uc002xwo.2	c.297C>T	1184/12187	2	2			c.297C>T						20	SNP	c.(295-297)TGC>TGT	32	32			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6	Broad	teashirt zinc finger homeobox 2			51870294		0.512	ENSG00000182463	16374	g.chr20:51870294C>T	multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							-17.92092	KEEP	3	2	-1	68	59	3	2	-1	8.890118	68	59	0.042017	1	0	0	0	0	0	0	1	0	--	--		0	T				112	GBM-06-6698-TP	p.C99C	C	AGAGTGTCTGCGGCAGAGATG	NM_173485	NP_775756	51870294	Q9NRE2	TSH2_HUMAN	0	STAD - Stomach adenocarcinoma(23;0.1)		2	1253	+	T	T			Silent	99						
TSHZ2	0	broad.mit.edu	GRCh37	20	51870661	51870661	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs141167641	by1000genomes	TCGA-12-0618-01	TCGA-12-0618-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371497.5:c.664G>A	p.Ala222Thr	p.A222T	ENST00000371497	NM_173485.5	222	Gcg/Acg	0		A:0	1	A:0		A	A/T	uc002xwo.2	protein_coding	YES	CCDS33490.1			664/3105								p.A222T(1)	ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6	c.(664-666)GCG>ACG			hmmpanther:PTHR12487:SF3,hmmpanther:PTHR12487,PROSITE_patterns:PS00028,SMART_domains:SM00355	teashirt zinc finger homeobox 2		A:0		ENSP00000360552	A:0.001	3-Feb	2.47E-05					1.50E-05		0.000121	rs141167641,COSM88698	3-Feb	.		ENST00000371497	Transcript		A:0.0008	multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000182463	g.chr20:51870661G>A	13010			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=TSH2_HUMAN&rb=192&re=261&var=A222T	getma.org/pdb.php?prot=TSH2_HUMAN&from=192&to=261&var=A222T	getma.org/?cm=var&var=hg19,20,51870661,G,A&fts=all	A222T	--	--	1																																			0,1	1		probably_damaging(0.999)	p.A222T	NM_173485	NP_775756	A:0.0031	deleterious(0)	0,1	TSH2_HUMAN	TSHZ2	HGNC	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		S4R3C8_HUMAN		2	1620	+			UPI0000206747	222			C2H2-type 1.		SNV	TSHZ2,missense_variant,p.Ala222Thr,ENST00000371497,NM_173485.5,NM_001193421.1;TSHZ2,missense_variant,p.Ala219Thr,ENST00000603338,;TSHZ2,missense_variant,p.Ala219Thr,ENST00000329613,;RP4-678D15.1,downstream_gene_variant,,ENST00000606932,;TSHZ2,upstream_gene_variant,,ENST00000605656,;	uc002xwo.2	c.664G>A	1551/12187	2	2			c.664G>A						20	SNP	c.(664-666)GCG>ACG	25	25		p.A222T(1)	ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6	Broad	teashirt zinc finger homeobox 2			51870661		0.562	ENSG00000182463	16374	g.chr20:51870661G>A	multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							74.297125	KEEP	16	20	-1	23	36	16	20	-1	75.928972	23	36	0.346154	1	0	0	0	0	1	0	0	0	--	--		0	A				119	GBM-12-0618-TP	p.A222T	G	ACAGTGCAGCGCGGCCTATGA	NM_173485	NP_775756	51870661	Q9NRE2	TSH2_HUMAN	0	STAD - Stomach adenocarcinoma(23;0.1)		2	1620	+	A	A			Missense_Mutation	222			C2H2-type 1.			
TSHZ2	0	broad.mit.edu	GRCh37	20	51870964	51870964	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371497.5:c.967C>T	p.Arg323Cys	p.R323C	ENST00000371497	NM_173485.5	323	Cgc/Tgc	0	T:0		1			T	R/C	uc002xwo.2	protein_coding	YES	CCDS33490.1			967/3105									ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6	c.(967-969)CGC>TGC			hmmpanther:PTHR12487:SF3,hmmpanther:PTHR12487	teashirt zinc finger homeobox 2			T:0.0001	ENSP00000360552		3-Feb	1.65E-05					3.00E-05			rs368152415,COSM1172727	3-Feb	.		ENST00000371497	Transcript			multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000182463	g.chr20:51870964C>T	13010			MODERATE		1.975	medium	getma.org/?cm=msa&ty=f&p=TSH2_HUMAN&rb=316&re=367&var=R323C	NA	getma.org/?cm=var&var=hg19,20,51870964,C,T&fts=all	R323C	--	--	1																																			0,1	1		probably_damaging(0.998)	p.R323C	NM_173485	NP_775756		deleterious(0)	0,1	TSH2_HUMAN	TSHZ2	HGNC	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		S4R3C8_HUMAN		2	1923	+			UPI0000206747	323					SNV	TSHZ2,missense_variant,p.Arg323Cys,ENST00000371497,NM_173485.5,NM_001193421.1;TSHZ2,missense_variant,p.Arg320Cys,ENST00000603338,;TSHZ2,missense_variant,p.Arg320Cys,ENST00000329613,;RP4-678D15.1,downstream_gene_variant,,ENST00000606932,;TSHZ2,upstream_gene_variant,,ENST00000605656,;	uc002xwo.2	c.967C>T	1854/12187	2	2			c.967C>T						20	SNP	c.(967-969)CGC>TGC	24	24			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6	Broad	teashirt zinc finger homeobox 2			51870964		0.453	ENSG00000182463	16374	g.chr20:51870964C>T	multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							-54.414985	KEEP	3	2	-1	134	117	3	2	-1	7.260841	134	117	0.020833	1	0	0	0	0	1	0	0	0	--	--		0	T				122	GBM-12-0692-TP	p.R323C	C	GGCTAAGAAACGCGTTTTTGA	NM_173485	NP_775756	51870964	Q9NRE2	TSH2_HUMAN	0	STAD - Stomach adenocarcinoma(23;0.1)		2	1923	+	T	T			Missense_Mutation	323						
TSHZ2	0	broad.mit.edu	GRCh37	20	51870661	51870661	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs141167641	by1000genomes	TCGA-19-1390-01	TCGA-19-1390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371497.5:c.664G>A	p.Ala222Thr	p.A222T	ENST00000371497	NM_173485.5	222	Gcg/Acg	0		A:0	1	A:0		A	A/T	uc002xwo.2	protein_coding	YES	CCDS33490.1			664/3105								p.A222T(1)	ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6	c.(664-666)GCG>ACG			hmmpanther:PTHR12487:SF3,hmmpanther:PTHR12487,PROSITE_patterns:PS00028,SMART_domains:SM00355	teashirt zinc finger homeobox 2		A:0		ENSP00000360552	A:0.001	3-Feb	2.47E-05					1.50E-05		0.000121	rs141167641,COSM88698	3-Feb	.		ENST00000371497	Transcript		A:0.0008	multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000182463	g.chr20:51870661G>A	13010			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=TSH2_HUMAN&rb=192&re=261&var=A222T	getma.org/pdb.php?prot=TSH2_HUMAN&from=192&to=261&var=A222T	getma.org/?cm=var&var=hg19,20,51870661,G,A&fts=all	A222T	--	--	1																																			0,1	1		probably_damaging(0.999)	p.A222T	NM_173485	NP_775756	A:0.0031	deleterious(0)	0,1	TSH2_HUMAN	TSHZ2	HGNC	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		S4R3C8_HUMAN		2	1620	+			UPI0000206747	222			C2H2-type 1.		SNV	TSHZ2,missense_variant,p.Ala222Thr,ENST00000371497,NM_173485.5,NM_001193421.1;TSHZ2,missense_variant,p.Ala219Thr,ENST00000603338,;TSHZ2,missense_variant,p.Ala219Thr,ENST00000329613,;RP4-678D15.1,downstream_gene_variant,,ENST00000606932,;TSHZ2,upstream_gene_variant,,ENST00000605656,;	uc002xwo.2	c.664G>A	1551/12187	2	2			c.664G>A						20	SNP	c.(664-666)GCG>ACG	25	25		p.A222T(1)	ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6	Broad	teashirt zinc finger homeobox 2			51870661		0.562	ENSG00000182463	16374	g.chr20:51870661G>A	multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							12.600362	KEEP	1	6	-1	21	24	1	6	-1	18.15239	21	24	0.148936	1	0	0	0	0	1	0	0	0	--	--		0	A				159	GBM-19-1390-TP	p.A222T	G	ACAGTGCAGCGCGGCCTATGA	NM_173485	NP_775756	51870661	Q9NRE2	TSH2_HUMAN	0	STAD - Stomach adenocarcinoma(23;0.1)		2	1620	+	A	A			Missense_Mutation	222			C2H2-type 1.			
TSHZ2	0	broad.mit.edu	GRCh37	20	51870967	51870967	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs138844500	byFrequency	TCGA-76-6192-01	TCGA-76-6192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371497.5:c.970G>A	p.Val324Ile	p.V324I	ENST00000371497	NM_173485.5	324	Gtt/Att	0	A:0	A:0	1	A:0		A	V/I	uc002xwo.2	protein_coding	YES	CCDS33490.1			970/3105									ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6	c.(970-972)GTT>ATT			hmmpanther:PTHR12487:SF3,hmmpanther:PTHR12487	teashirt zinc finger homeobox 2		A:0	A:0.0006	ENSP00000360552	A:0.001	3-Feb	0.000255	0.000293				0.00042			rs138844500,COSM304844	3-Feb	common_variant		ENST00000371497	Transcript		A:0.0002	multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000182463	g.chr20:51870967G>A	13010			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=TSH2_HUMAN&rb=316&re=367&var=V324I	NA	getma.org/?cm=var&var=hg19,20,51870967,G,A&fts=all	V324I	--	--	1																																			0,1	1		benign(0.006)	p.V324I	NM_173485	NP_775756	A:0	tolerated(0.05)	0,1	TSH2_HUMAN	TSHZ2	HGNC	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		S4R3C8_HUMAN		2	1926	+			UPI0000206747	324					SNV	TSHZ2,missense_variant,p.Val324Ile,ENST00000371497,NM_173485.5,NM_001193421.1;TSHZ2,missense_variant,p.Val321Ile,ENST00000603338,;TSHZ2,missense_variant,p.Val321Ile,ENST00000329613,;RP4-678D15.1,downstream_gene_variant,,ENST00000606932,;TSHZ2,upstream_gene_variant,,ENST00000605656,;	uc002xwo.2	c.970G>A	1857/12187	2	2			c.970G>A						20	SNP	c.(970-972)GTT>ATT	42	42			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6	Broad	teashirt zinc finger homeobox 2			51870967		0.458	ENSG00000182463	16374	g.chr20:51870967G>A	multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							28.446196	KEEP	4	11	-1	32	28	4	11	-1	34.290912	32	28	0.19403	1	0	0	0	0	1	0	0	0	--	--		0	A				275	GBM-76-6192-TP	p.V324I	G	TAAGAAACGCGTTTTTGATGT	NM_173485	NP_775756	51870967	Q9NRE2	TSH2_HUMAN	0	STAD - Stomach adenocarcinoma(23;0.1)		2	1926	+	A	A			Missense_Mutation	324						
TSHZ2	128553		GRCh37	20	51870661	51870661	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000371497.5:c.664G>A	p.Ala222Thr	p.A222T	ENST00000371497	NM_173485.5	222	Gcg/Acg	0																																																																																																																																																																																																																																												
TSHZ3	0	broad.mit.edu	GRCh37	19	31769684	31769685	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-16-0846-01	TCGA-16-0846-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000240587.4:c.1014_1015insA	p.Gly339ArgfsTer26	p.G339Rfs*26	ENST00000240587	NM_020856.2	338	-/A	0			1			T	-/X	uc002nsy.3	protein_coding	YES	CCDS12421.2			1014-1015/3246									ovary(4)|skin(2)|pancreas(1)|lung(1)	8	c.(1012-1017)GGTGGAfs			hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF5	zinc finger protein 537				ENSP00000240587		2-Feb										2-Feb	.		ENST00000240587	Transcript			negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000121297	g.chr19:31769684_31769685insT	30700			HIGH								--	--	1																																				1			p.G338fs	NM_020856	NP_065907				TSH3_HUMAN	TSHZ3	HGNC	Q63HK5	TSH3_HUMAN			A1L0U7_HUMAN		2	1079_1080	-	Esophageal squamous(110;0.226)		UPI0000202000	338_339					insertion	TSHZ3,frameshift_variant,p.Gly339ArgfsTer26,ENST00000240587,NM_020856.2;TSHZ3,downstream_gene_variant,,ENST00000560707,;	uc002nsy.3	c.1014_1015insA	1342-1343/5176	5	5			c.1014_1015insA						19	INS	c.(1012-1017)GGTGGAfs	65	65			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Broad	zinc finger protein 537			31769685		0.564	ENSG00000121297	16375	g.chr19:31769684_31769685insT	negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding																				0.11	1	0	0	1	1	0	0	0	0	--	--		0	T				155	GBM-16-0846-TP	p.G338fs	-	TTGGGGGTTCCACCTGTGGAAT	NM_020856	NP_065907	31769684	Q63HK5	TSH3_HUMAN	0			2	1079_1080	-	T	T	Esophageal squamous(110;0.226)		Frame_Shift_Ins	338_339						
TSKS	60385	broad.mit.edu	GRCh37	19	50243103	50243103	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs141726866	byFrequency	TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000246801.3:c.1709C>T	p.Thr570Met	p.T570M	ENST00000246801	NM_021733.1	570	aCg/aTg	0	A:0.0002		1			A	T/M	uc002ppm.2	protein_coding	YES	CCDS12780.1			1709/1779									large_intestine(1)|skin(1)	2	c.(1708-1710)ACG>ATG			Low_complexity_(Seg):seg,hmmpanther:PTHR14351:SF1,hmmpanther:PTHR14351,Pfam_domain:PF15358	testis-specific kinase substrate			A:0.0003	ENSP00000246801		11-Nov	0.000148	9.61E-05	8.64E-05			0.000225		6.12E-05	rs141726866,COSM1737131,COSM3404463	11-Nov	.		ENST00000246801	Transcript					protein binding	ENSG00000126467	g.chr19:50243103G>A	30719			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=TSKS_HUMAN&rb=1&re=591&var=T570M	NA	getma.org/?cm=var&var=hg19,19,50243103,G,A&fts=all	T570M	--	--	1																																			0,1,1	1		benign(0.103)	p.T570M	NM_021733	NP_068379		deleterious_low_confidence(0.04)	0,1,1	TSKS_HUMAN	TSKS	HGNC	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)			11	1720	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	UPI000007272E	570					SNV	TSKS,missense_variant,p.Thr570Met,ENST00000246801,NM_021733.1;TSKS,missense_variant,p.Thr370Met,ENST00000358830,;TSKS,non_coding_transcript_exon_variant,,ENST00000599325,;	uc002ppm.2	c.1709C>T	1792/1883	2	2			c.1709C>T						19	SNP	c.(1708-1710)ACG>ATG	42	42			large_intestine(1)|skin(1)	2	Broad	testis-specific kinase substrate			50243103		0.562	ENSG00000126467	16376	g.chr19:50243103G>A			protein binding							321.221111	KEEP	49	55	-1	12	25	49	55	-1	328.082856	12	25	0.740458	1	0	0	0	0	1	0	0	0	--	--		0	A				102	GBM-06-5858-TP	p.T570M	G	CATTGTTCCCGTGGACCCCTC	NM_021733	NP_068379	50243103	Q9UJT2	TSKS_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	11	1720	-	A	A		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	Missense_Mutation	570						
TSKS	0	broad.mit.edu	GRCh37	19	50243159	50243159	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0789-01	TCGA-14-0789-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000246801.3:c.1653C>T	p.His551=	p.H551=	ENST00000246801	NM_021733.1	551	caC/caT	0			1			A	H	uc002ppm.2	protein_coding	YES	CCDS12780.1			1653/1779									large_intestine(1)|skin(1)	2	c.(1651-1653)CAC>CAT			hmmpanther:PTHR14351:SF1,hmmpanther:PTHR14351,Pfam_domain:PF15358	testis-specific kinase substrate				ENSP00000246801		11-Nov									COSM3404464,COSM3404465	11-Nov	.		ENST00000246801	Transcript					protein binding	ENSG00000126467	g.chr19:50243159G>A	30719			LOW								--	--	1																																			1,1	1			p.H551H	NM_021733	NP_068379			1,1	TSKS_HUMAN	TSKS	HGNC	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)			11	1664	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	UPI000007272E	551					SNV	TSKS,synonymous_variant,p.=,ENST00000246801,NM_021733.1;TSKS,synonymous_variant,p.=,ENST00000358830,;TSKS,non_coding_transcript_exon_variant,,ENST00000599325,;	uc002ppm.2	c.1653C>T	1736/1883	2	2			c.1653C>T						19	SNP	c.(1651-1653)CAC>CAT	36	36			large_intestine(1)|skin(1)	2	Broad	testis-specific kinase substrate			50243159		0.592	ENSG00000126467	16376	g.chr19:50243159G>A			protein binding							95.765713	KEEP	29	20	-1	122	93	29	20	-1	117.738925	122	93	0.191057	1	0	0	0	0	0	0	1	0	--	--		0	A				136	GBM-14-0789-TP	p.H551H	G	ACATCTTCAAGTGTAGATGGT	NM_021733	NP_068379	50243159	Q9UJT2	TSKS_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	11	1664	-	A	A		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	Silent	551						
TSKU	25987	broad.mit.edu	GRCh37	11	76506917	76506917	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-02-0033-01	TCGA-02-0033-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000527881.1:c.257T>G	p.Leu86Trp	p.L86W	ENST00000527881		86	tTg/tGg	0			1			G	L/W	uc001oxt.2	protein_coding		CCDS8246.1			257/1062										0	c.(256-258)TTG>TGG			Gene3D:3.80.10.10,Pfam_domain:PF13855,Prints_domain:PR00019,PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF244,SMART_domains:SM00369,Superfamily_domains:SSF52058	tsukushin precursor				ENSP00000332668		2-Feb									COSM3398143	2-Feb	.		ENST00000333090	Transcript				extracellular region		ENSG00000182704	g.chr11:76506917T>G	28850			MODERATE		3.95	high	getma.org/?cm=msa&ty=f&p=TSK_HUMAN&rb=84&re=143&var=L86W	getma.org/pdb.php?prot=TSK_HUMAN&from=84&to=143&var=L86W	getma.org/?cm=var&var=hg19,11,76506917,T,G&fts=all	L86W	--	--	1																																			1			probably_damaging(1)	p.L86W	NM_015516	NP_056331		deleterious(0)	1	TSK_HUMAN	TSKU	HGNC	Q8WUA8	TSK_HUMAN			E9PN12_HUMAN,E9PLG7_HUMAN		2	429	+	Ovarian(111;0.112)		UPI000006E7B7	86			LRR 2.		SNV	TSKU,missense_variant,p.Leu86Trp,ENST00000527881,;TSKU,missense_variant,p.Leu86Trp,ENST00000333090,NM_015516.3,NM_001258210.1;TSKU,missense_variant,p.Leu86Trp,ENST00000533752,;TSKU,missense_variant,p.Leu86Trp,ENST00000525167,;RP11-21L23.2,upstream_gene_variant,,ENST00000566747,;	uc001oxt.2	c.257T>G	431/2712	4	4			c.257T>G						11	SNP	c.(256-258)TTG>TGG	22	22				0	Broad	tsukushin precursor			76506917		0.632	ENSG00000182704	16377	g.chr11:76506917T>G		extracellular region								22.915094	KEEP	8	9	-1	25	35	8	9	-1	29.232886	25	35	0.166667	1	0	0	0	0	1	0	0	0	--	--		0	G				2	GBM-02-0033-TP	p.L86W	T	TACACGACGTTGGCTGGCCTG	NM_015516	NP_056331	76506917	Q8WUA8	TSK_HUMAN	0			2	429	+	G	G	Ovarian(111;0.112)		Missense_Mutation	86			LRR 2.			
TSNARE1	0	broad.mit.edu	GRCh37	8	143425640	143425640	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-2509-01	TCGA-28-2509-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000524325.1:c.432C>T	p.His144=	p.H144=	ENST00000524325		144	caC/caT	0			1			A	H	uc003ywk.2	protein_coding					432/1539										0	c.(430-432)CAC>CAT			Pfam_domain:PF13873	t-SNARE domain containing 1				ENSP00000428763		14-Apr									COSM3412793	14-Apr	.		ENST00000524325	Transcript			vesicle-mediated transport	integral to membrane		ENSG00000171045	g.chr8:143425640G>A	26437			LOW								--	--	1																																		TSNARE1_uc011lju.1_Silent_p.H144H|TSNARE1_uc003ywj.2_Silent_p.H144H|TSNARE1_uc003ywl.3_Intron	1				p.H144H	NM_145003	NP_659440			1		TSNARE1	HGNC	Q96NA8	TSNA1_HUMAN			E5RHW3_HUMAN,B7ZLB0_HUMAN		4	550	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		UPI000189A725	144					SNV	TSNARE1,synonymous_variant,p.=,ENST00000524325,;TSNARE1,synonymous_variant,p.=,ENST00000307180,NM_145003.3;TSNARE1,synonymous_variant,p.=,ENST00000520166,;TSNARE1,synonymous_variant,p.=,ENST00000520462,;TSNARE1,intron_variant,,ENST00000519651,;TSNARE1,downstream_gene_variant,,ENST00000518720,;	uc003ywk.2	c.432C>T	608/1960	1	1			c.432C>T						8	SNP	c.(430-432)CAC>CAT	64	64				0	Broad	t-SNARE domain containing 1			143425640		0.667	ENSG00000171045	16380	g.chr8:143425640G>A	vesicle-mediated transport	integral to membrane								61.768967	KEEP	11	13	-1	15	15	11	13	-1	61.812648	15	15	0.466667	1	0	0	0	0	0	0	1	0	--	--		0	A			TSNARE1_uc011lju.1_Silent_p.H144H|TSNARE1_uc003ywj.2_Silent_p.H144H|TSNARE1_uc003ywl.3_Intron	211	GBM-28-2509-TP	p.H144H	G	ACAGCAGCTGGTGGTGCTTGC	NM_145003	NP_659440	143425640	Q96NA8	TSNA1_HUMAN	0			4	550	-	A	A	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		Silent	144						
TSNARE1	0	broad.mit.edu	GRCh37	8	143310871	143310871	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-1982-01	TCGA-32-1982-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000524325.1:c.1513A>G	p.Ile505Val	p.I505V	ENST00000524325		505	Atc/Gtc	0			1			C	I/V	uc003ywk.2	protein_coding					1513/1539										0	c.(1516-1518)ATC>GTC			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR19957:SF38,hmmpanther:PTHR19957	t-SNARE domain containing 1				ENSP00000428763		13/14									COSM3412792	13/14	.		ENST00000524325	Transcript			vesicle-mediated transport	integral to membrane		ENSG00000171045	g.chr8:143310871T>C	26437			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=TSNA1_HUMAN&rb=484&re=513&var=I506V	NA	getma.org/?cm=var&var=hg19,8,143310871,T,C&fts=all	I506V	--	--	1																																		TSNARE1_uc011lju.1_Missense_Mutation_p.I505V|TSNARE1_uc003ywj.2_Missense_Mutation_p.I507V	1			benign(0)	p.I506V	NM_145003	NP_659440		tolerated_low_confidence(0.11)	1		TSNARE1	HGNC	Q96NA8	TSNA1_HUMAN			E5RHW3_HUMAN,B7ZLB0_HUMAN		13	1634	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		UPI000189A725	506			Poly-Ile.|Helical; (Potential).		SNV	TSNARE1,missense_variant,p.Ile505Val,ENST00000524325,;TSNARE1,missense_variant,p.Ile506Val,ENST00000307180,NM_145003.3;TSNARE1,missense_variant,p.Ile506Val,ENST00000520166,;	uc003ywk.2	c.1516A>G	1689/1960	4	4			c.1516A>G						8	SNP	c.(1516-1518)ATC>GTC	43	43				0	Broad	t-SNARE domain containing 1			143310871		0.423	ENSG00000171045	16380	g.chr8:143310871T>C	vesicle-mediated transport	integral to membrane								56.5502	KEEP	10	12	-1	20	26	10	12	-1	57.979067	20	26	0.33871	1	0	0	0	0	1	0	0	0	--	--		0	C			TSNARE1_uc011lju.1_Missense_Mutation_p.I505V|TSNARE1_uc003ywj.2_Missense_Mutation_p.I507V	232	GBM-32-1982-TP	p.I506V	T	GTGGCGATGATGATGATGATG	NM_145003	NP_659440	143310871	Q96NA8	TSNA1_HUMAN	0			13	1634	-	C	C	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	506			Poly-Ile.|Helical; (Potential).			
TSPAN16	0	broad.mit.edu	GRCh37	19	11411902	11411902	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0821-01	TCGA-12-0821-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316737.1:c.368C>T	p.Thr123Ile	p.T123I	ENST00000316737	NM_012466.2	123	aCc/aTc	0			1			T	T/I	uc002mqv.1	protein_coding	YES	CCDS12256.1			368/738									skin(1)	1	c.(367-369)ACC>ATC			hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF29,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419	transmembrane 4 superfamily member 16				ENSP00000319486		7-Apr									COSM3403755	7-Apr	.		ENST00000316737	Transcript				integral to membrane		ENSG00000130167	g.chr19:11411902C>T	30725			MODERATE		-0.55	neutral	getma.org/?cm=msa&ty=f&p=TSN16_HUMAN&rb=10&re=233&var=T123I	NA	getma.org/?cm=var&var=hg19,19,11411902,C,T&fts=all	T123I	--	--	1																																		TSPAN16_uc002mqu.1_RNA|uc002mqw.1_RNA	1	1		benign(0.026)	p.T123I	NM_012466	NP_036598		tolerated(0.24)	1	TSN16_HUMAN	TSPAN16	HGNC	Q9UKR8	TSN16_HUMAN					4	518	+			UPI000013706E	123			Cytoplasmic (Potential).		SNV	TSPAN16,missense_variant,p.Thr123Ile,ENST00000316737,NM_012466.2;TSPAN16,missense_variant,p.Thr123Ile,ENST00000590327,NM_001282509.1;TSPAN16,missense_variant,p.Thr98Ile,ENST00000592955,NM_001282510.1;CTC-510F12.4,non_coding_transcript_exon_variant,,ENST00000586356,;CTC-510F12.4,non_coding_transcript_exon_variant,,ENST00000585801,;TSPAN16,missense_variant,p.Thr123Ile,ENST00000337994,;	uc002mqv.1	c.368C>T	518/1040	2	2			c.368C>T						19	SNP	c.(367-369)ACC>ATC	47	47			skin(1)	1	Broad	transmembrane 4 superfamily member 16			11411902		0.498	ENSG00000130167	16390	g.chr19:11411902C>T		integral to membrane								167.481143	KEEP	52	14	-1	70	33	52	14	-1	169.328294	70	33	0.383117	1	0	0	0	0	1	0	0	0	--	--		0	T			TSPAN16_uc002mqu.1_RNA|uc002mqw.1_RNA	123	GBM-12-0821-TP	p.T123I	C	TTGGAACACACCTTCGTGACC	NM_012466	NP_036598	11411902	Q9UKR8	TSN16_HUMAN	0			4	518	+	T	T			Missense_Mutation	123			Cytoplasmic (Potential).			
TSPAN16	0	broad.mit.edu	GRCh37	19	11408879	11408879	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs138340787		TCGA-28-2499-01	TCGA-28-2499-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316737.1:c.131C>T	p.Thr44Met	p.T44M	ENST00000316737	NM_012466.2	44	aCg/aTg	0			1			T	T/M	uc002mqv.1	protein_coding	YES	CCDS12256.1			131/738									skin(1)	1	c.(130-132)ACG>ATG			hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF29,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419	transmembrane 4 superfamily member 16				ENSP00000319486		7-Feb	8.24E-06	9.61E-05							rs768255025,COSM3403754	7-Feb	.		ENST00000316737	Transcript				integral to membrane		ENSG00000130167	g.chr19:11408879C>T	30725			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=TSN16_HUMAN&rb=10&re=233&var=T44M	NA	getma.org/?cm=var&var=hg19,19,11408879,C,T&fts=all	T44M	--	--	1																																		TSPAN16_uc002mqu.1_RNA	0,1	1		probably_damaging(0.994)	p.T44M	NM_012466	NP_036598		tolerated(0.09)	0,1	TSN16_HUMAN	TSPAN16	HGNC	Q9UKR8	TSN16_HUMAN					2	281	+			UPI000013706E	44			Helical; (Potential).		SNV	TSPAN16,missense_variant,p.Thr44Met,ENST00000316737,NM_012466.2;TSPAN16,missense_variant,p.Thr44Met,ENST00000590327,NM_001282509.1;TSPAN16,missense_variant,p.Thr44Met,ENST00000592955,NM_001282510.1;CTC-510F12.4,downstream_gene_variant,,ENST00000586356,;CTC-510F12.4,downstream_gene_variant,,ENST00000585801,;TSPAN16,missense_variant,p.Thr44Met,ENST00000337994,;	uc002mqv.1	c.131C>T	281/1040	2	2			c.131C>T						19	SNP	c.(130-132)ACG>ATG	19	19			skin(1)	1	Broad	transmembrane 4 superfamily member 16			11408879		0.532	ENSG00000130167	16390	g.chr19:11408879C>T		integral to membrane								-21.645881	KEEP	3	3	-1	73	81	3	3	-1	11.126293	73	81	0.041379	1	0	0	0	0	1	0	0	0	--	--		0	T			TSPAN16_uc002mqu.1_RNA	208	GBM-28-2499-TP	p.T44M	C	GCCTCTCTGACGAATGTCCTC	NM_012466	NP_036598	11408879	Q9UKR8	TSN16_HUMAN	0			2	281	+	T	T			Missense_Mutation	44			Helical; (Potential).			
TSPAN17	26262	broad.mit.edu	GRCh37	5	176078841	176078841	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310032.8:c.225G>A	p.Ser75=	p.S75=	ENST00000310032	NM_012171.2	75	tcG/tcA	0			1			A	S	uc003met.2	protein_coding	YES	CCDS34298.1			225/999										0	c.(223-225)TCG>TCA			Pfam_domain:PF00335,Prints_domain:PR00259,PROSITE_patterns:PS00421,hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF64,Transmembrane_helices:TMhelix	transmembrane 4 superfamily member 17 isoform a				ENSP00000309036		9-Mar									COSM3410158	9-Mar	.		ENST00000310032	Transcript				integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	ENSG00000048140	g.chr5:176078841G>A	13594			LOW								--	--	1																																		TSPAN17_uc003mes.3_Intron|TSPAN17_uc003meu.2_Silent_p.S75S|TSPAN17_uc003mev.2_Silent_p.S75S|TSPAN17_uc003mew.2_Silent_p.S75S	1	1			p.S75S	NM_012171	NP_036303			1		TSPAN17	HGNC	Q96FV3	TSN17_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		J3KNG2_HUMAN		3	454	+	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	UPI00004542F1	75			Helical; (Potential).		SNV	TSPAN17,synonymous_variant,p.=,ENST00000405525,NM_001006616.2;TSPAN17,synonymous_variant,p.=,ENST00000310032,NM_012171.2,NM_130465.4;TSPAN17,synonymous_variant,p.=,ENST00000508164,;TSPAN17,synonymous_variant,p.=,ENST00000515708,;TSPAN17,synonymous_variant,p.=,ENST00000503045,;TSPAN17,synonymous_variant,p.=,ENST00000504168,;TSPAN17,intron_variant,,ENST00000298564,;TSPAN17,intron_variant,,ENST00000507471,;TSPAN17,3_prime_UTR_variant,,ENST00000503030,;TSPAN17,non_coding_transcript_exon_variant,,ENST00000514705,;	uc003met.2	c.225G>A	454/2550	2	2			c.225G>A						5	SNP	c.(223-225)TCG>TCA	43	43				0	Broad	transmembrane 4 superfamily member 17 isoform a			176078841		0.612	ENSG00000048140	16391	g.chr5:176078841G>A		integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity							324.662432	KEEP	51	48	-1	17	17	51	48	-1	332.475678	17	17	0.766667	1	0	0	0	0	0	0	1	0	--	--		0	A			TSPAN17_uc003mes.3_Intron|TSPAN17_uc003meu.2_Silent_p.S75S|TSPAN17_uc003mev.2_Silent_p.S75S|TSPAN17_uc003mew.2_Silent_p.S75S	102	GBM-06-5858-TP	p.S75S	G	GCGTCATGTCGGTGCTGGGCT	NM_012171	NP_036303	176078841	Q96FV3	TSN17_HUMAN	0	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	454	+	A	A	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Silent	75			Helical; (Potential).			
TSPAN19	0	broad.mit.edu	GRCh37	12	85411285	85411285	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-6701-01	TCGA-06-6701-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000532498.2:c.544A>T	p.Thr182Ser	p.T182S	ENST00000532498	NM_001100917.1	182	Act/Tct	0			1			A	T/S	uc009zsj.2	protein_coding	YES	CCDS44949.1			544/747									ovary(1)	1	c.(544-546)ACT>TCT			hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF211,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,Superfamily_domains:0037997	tetraspanin 19				ENSP00000433816		9-Jul									COSM3399145	9-Jul	.		ENST00000532498	Transcript				integral to membrane		ENSG00000231738	g.chr12:85411285T>A	31886			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=TSN19_HUMAN&rb=9&re=240&var=T182S	NA	getma.org/?cm=var&var=hg19,12,85411285,T,A&fts=all	T182S	--	--	1																																			1	1		benign(0.191)	p.T182S	NM_001100917	NP_001094387		tolerated(0.55)	1	TSN19_HUMAN	TSPAN19	HGNC	P0C672	TSN19_HUMAN			F8VZ36_HUMAN		7	645	-			UPI000003F7BD	182					SNV	TSPAN19,missense_variant,p.Thr182Ser,ENST00000532498,NM_001100917.1;TSPAN19,missense_variant,p.Thr31Ser,ENST00000525452,;TSPAN19,downstream_gene_variant,,ENST00000547403,;TSPAN19,3_prime_UTR_variant,,ENST00000433494,;TSPAN19,non_coding_transcript_exon_variant,,ENST00000532628,;TSPAN19,downstream_gene_variant,,ENST00000552392,;TSPAN19,upstream_gene_variant,,ENST00000529820,;	uc009zsj.2	c.544A>T	625/998	2	2			c.544A>T						12	SNP	c.(544-546)ACT>TCT	34	34			ovary(1)	1	Broad	tetraspanin 19			85411285		0.343	ENSG00000231738	16393	g.chr12:85411285T>A		integral to membrane								27.144423	KEEP	3	7	-1	11	8	3	7	-1	27.290172	11	8	0.416667	1	0	0	0	0	1	0	0	0	--	--		0	A				115	GBM-06-6701-TP	p.T182S	T	TTTCTTAAAGTTGACTTTGTG	NM_001100917	NP_001094387	85411285	P0C672	TSN19_HUMAN	0			7	645	-	A	A			Missense_Mutation	182						
TSPAN31	6302	broad.mit.edu	GRCh37	12	58140433	58140433	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0238-01	TCGA-06-0238-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000257910.3:c.374G>A	p.Arg125Lys	p.R125K	ENST00000257910	NM_005981.3	125	aGa/aAa	0			1			A	R/K	uc001spt.2	protein_coding	YES	CCDS8952.1			374/633										0	c.(373-375)AGA>AAA			PIRSF_domain:PIRSF002419,Pfam_domain:PF00335,hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF3	sarcoma amplified sequence				ENSP00000257910		6-Apr									COSM3398947	6-Apr	.		ENST00000257910	Transcript			positive regulation of cell proliferation	integral to plasma membrane|membrane fraction		ENSG00000135452	g.chr12:58140433G>A	10539			MODERATE		-0.25	neutral	getma.org/?cm=msa&ty=f&p=TSN31_HUMAN&rb=8&re=199&var=R125K	NA	getma.org/?cm=var&var=hg19,12,58140433,G,A&fts=all	R125K	--	--	1																																		TSPAN31_uc009zqb.2_Intron|TSPAN31_uc010ssa.1_Missense_Mutation_p.R47K	1	1		benign(0.002)	p.R125K	NM_005981	NP_005972		tolerated(0.86)	1	TSN31_HUMAN	TSPAN31	HGNC	Q12999	TSN31_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		F8VW54_HUMAN,F8VVF8_HUMAN,B4DFJ7_HUMAN		4	528	+	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		UPI000013557C	125			Extracellular (Potential).		SNV	TSPAN31,missense_variant,p.Arg125Lys,ENST00000257910,NM_005981.3;TSPAN31,missense_variant,p.Arg47Lys,ENST00000552816,;TSPAN31,missense_variant,p.Arg47Lys,ENST00000548167,;TSPAN31,missense_variant,p.Arg42Lys,ENST00000547472,;TSPAN31,intron_variant,,ENST00000547992,;AGAP2,upstream_gene_variant,,ENST00000257897,NM_014770.3;CDK4,downstream_gene_variant,,ENST00000257904,NM_000075.3;CDK4,downstream_gene_variant,,ENST00000312990,;CDK4,downstream_gene_variant,,ENST00000540325,;CDK4,downstream_gene_variant,,ENST00000547281,;CDK4,downstream_gene_variant,,ENST00000546489,;CDK4,downstream_gene_variant,,ENST00000551800,;CDK4,downstream_gene_variant,,ENST00000552254,;CDK4,downstream_gene_variant,,ENST00000552388,;CDK4,downstream_gene_variant,,ENST00000549606,;CDK4,downstream_gene_variant,,ENST00000552862,;TSPAN31,non_coding_transcript_exon_variant,,ENST00000553221,;CDK4,downstream_gene_variant,,ENST00000551888,;TSPAN31,downstream_gene_variant,,ENST00000550528,;TSPAN31,downstream_gene_variant,,ENST00000548093,;TSPAN31,downstream_gene_variant,,ENST00000547311,;TSPAN31,3_prime_UTR_variant,,ENST00000549052,;TSPAN31,3_prime_UTR_variant,,ENST00000553089,;TSPAN31,non_coding_transcript_exon_variant,,ENST00000550791,;TSPAN31,non_coding_transcript_exon_variant,,ENST00000546993,;CDK4,downstream_gene_variant,,ENST00000551706,;CDK4,downstream_gene_variant,,ENST00000553237,;CDK4,downstream_gene_variant,,ENST00000550419,;TSPAN31,upstream_gene_variant,,ENST00000546922,;CDK4,downstream_gene_variant,,ENST00000552713,;	uc001spt.2	c.374G>A	648/1849	2	2			c.374G>A						12	SNP	c.(373-375)AGA>AAA	41	41				0	Broad	sarcoma amplified sequence			58140433		0.448	ENSG00000135452	16396	g.chr12:58140433G>A	positive regulation of cell proliferation	integral to plasma membrane|membrane fraction								-162.406261	KEEP	18	12	-1	491	476	18	12	-1	54.716403	491	476	0.030134	1	0	0	0	0	1	0	0	0	--	--		0	A			TSPAN31_uc009zqb.2_Intron|TSPAN31_uc010ssa.1_Missense_Mutation_p.R47K	55	GBM-06-0238-TP	p.R125K	G	GAACTGGAAAGAAGTTTTGAT	NM_005981	NP_005972	58140433	Q12999	TSN31_HUMAN	0	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		4	528	+	A	A	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		Missense_Mutation	125			Extracellular (Potential).			
TSPAN32	0	broad.mit.edu	GRCh37	11	2334954	2334954	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs138129469		TCGA-76-6191-01	TCGA-76-6191-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000182290.4:c.425G>A	p.Arg142Gln	p.R142Q	ENST00000182290	NM_139022.2	142	cGg/cAg	0	A:0.0002		1			A	R/Q	uc001lvy.1	protein_coding	YES	CCDS7733.1			425/963									central_nervous_system(1)	1	c.(424-426)CGG>CAG			hmmpanther:PTHR19282:SF197,hmmpanther:PTHR19282,Gene3D:1g8qA00,Pfam_domain:PF00335,Superfamily_domains:0037997	tumor-suppressing subtransferable candidate 6			A:0.0003	ENSP00000182290		10-May	0.000338	0.000508				0.000835		0.000184	rs138129469	10-May	common_variant		ENST00000182290	Transcript			cell-cell signaling	integral to membrane		ENSG00000064201	g.chr11:2334954G>A	13410			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=TSN32_HUMAN&rb=9&re=228&var=R142Q	NA	getma.org/?cm=var&var=hg19,11,2334954,G,A&fts=all	R142Q	--	--	1																																		TSPAN32_uc001lvx.1_Intron|TSPAN32_uc009ydk.1_Missense_Mutation_p.R152Q|TSPAN32_uc010qxk.1_Missense_Mutation_p.R177Q|TSPAN32_uc009ydl.1_RNA|TSPAN32_uc001lvz.1_Missense_Mutation_p.R112Q|TSPAN32_uc001lwb.1_Missense_Mutation_p.R112Q|TSPAN32_uc001lwc.1_Missense_Mutation_p.R87Q|TSPAN32_uc001lwd.1_5'Flank		1		benign(0.004)	p.R142Q	NM_139022	NP_620591		tolerated(0.36)		TSN32_HUMAN	TSPAN32	HGNC	Q96QS1	TSN32_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)			5	562	+		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)	UPI000013198B	142					SNV	TSPAN32,missense_variant,p.Arg142Gln,ENST00000182290,NM_139022.2;TSPAN32,missense_variant,p.Arg131Gln,ENST00000451520,;TSPAN32,missense_variant,p.Arg142Gln,ENST00000381121,;TSPAN32,missense_variant,p.Arg87Gln,ENST00000381117,;TSPAN32,non_coding_transcript_exon_variant,,ENST00000483227,;TSPAN32,non_coding_transcript_exon_variant,,ENST00000479508,;TSPAN32,intron_variant,,ENST00000484523,;TSPAN32,upstream_gene_variant,,ENST00000486011,;TSPAN32,missense_variant,p.Arg142Gln,ENST00000446063,;TSPAN32,non_coding_transcript_exon_variant,,ENST00000493924,;TSPAN32,non_coding_transcript_exon_variant,,ENST00000498313,;TSPAN32,non_coding_transcript_exon_variant,,ENST00000484104,;TSPAN32,non_coding_transcript_exon_variant,,ENST00000493948,;TSPAN32,intron_variant,,ENST00000461200,;TSPAN32,intron_variant,,ENST00000339046,;TSPAN32,downstream_gene_variant,,ENST00000437313,;	uc001lvy.1	c.425G>A	562/1318	1	1			c.425G>A						11	SNP	c.(424-426)CGG>CAG	54	54			central_nervous_system(1)	1	Broad	tumor-suppressing subtransferable candidate 6			2334954		0.647	ENSG00000064201	16397	g.chr11:2334954G>A	cell-cell signaling	integral to membrane								14.672181	KEEP	5	0	-1	5	6	5	0	-1	14.92336	5	6	0.357143	1	0	0	0	0	1	0	0	0	--	--		0	A			TSPAN32_uc001lvx.1_Intron|TSPAN32_uc009ydk.1_Missense_Mutation_p.R152Q|TSPAN32_uc010qxk.1_Missense_Mutation_p.R177Q|TSPAN32_uc009ydl.1_RNA|TSPAN32_uc001lvz.1_Missense_Mutation_p.R112Q|TSPAN32_uc001lwb.1_Missense_Mutation_p.R112Q|TSPAN32_uc001lwc.1_Missense_Mutation_p.R87Q|TSPAN32_uc001lwd.1_5'Flank	274	GBM-76-6191-TP	p.R142Q	G	TCCCACGTCCGGCGGCAGGAG	NM_139022	NP_620591	2334954	Q96QS1	TSN32_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	5	562	+	A	A		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)	Missense_Mutation	142						
TSPAN4	0	broad.mit.edu	GRCh37	11	866600	866600	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-19-1390-01	TCGA-19-1390-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397397.2:c.687A>G	p.Gln229=	p.Q229=	ENST00000397397	NM_003271.4	229	caA/caG	0			1			G	Q	uc001lsd.1	protein_coding		CCDS7721.1			687/717									breast(1)	1	c.(685-687)CAA>CAG			hmmpanther:PTHR19282:SF40,hmmpanther:PTHR19282,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,Prints_domain:PR00259	tetraspanin 4 isoform a				ENSP00000380552		9-Sep									COSM3398179	9-Sep	.		ENST00000397397	Transcript			protein complex assembly	integral to plasma membrane		ENSG00000214063	g.chr11:866600A>G	11859			LOW								--	--	1																																		TSPAN4_uc001lse.1_Silent_p.Q165Q|TSPAN4_uc001lsf.1_Silent_p.Q229Q|TSPAN4_uc001lsg.1_Silent_p.Q229Q|TSPAN4_uc001lsh.1_Silent_p.Q229Q|TSPAN4_uc001lsi.1_Silent_p.Q229Q|TSPAN4_uc001lsj.1_Silent_p.Q229Q	1				p.Q229Q	NM_003271	NP_003262			1	TSN4_HUMAN	TSPAN4	HGNC	O14817	TSN4_HUMAN		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	E9PSH3_HUMAN,E9PPX8_HUMAN,E9PMX4_HUMAN,A8MVV6_HUMAN		9	896	+		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	UPI000013683F	229			Cytoplasmic (Potential).		SNV	TSPAN4,synonymous_variant,p.=,ENST00000397404,NM_001025237.1;TSPAN4,synonymous_variant,p.=,ENST00000397408,NM_001025236.1,NM_001025235.1;TSPAN4,synonymous_variant,p.=,ENST00000397406,NM_001025234.1;TSPAN4,synonymous_variant,p.=,ENST00000397397,NM_003271.4;TSPAN4,synonymous_variant,p.=,ENST00000409531,;TSPAN4,synonymous_variant,p.=,ENST00000397396,NM_001025239.1;TSPAN4,synonymous_variant,p.=,ENST00000409543,;TSPAN4,synonymous_variant,p.=,ENST00000397411,NM_001025238.1;TSPAN4,synonymous_variant,p.=,ENST00000346501,;TSPAN4,synonymous_variant,p.=,ENST00000525201,;CHID1,downstream_gene_variant,,ENST00000449825,NM_001142675.1;CHID1,downstream_gene_variant,,ENST00000323578,NM_023947.3;CHID1,downstream_gene_variant,,ENST00000454838,NM_001142676.1;CHID1,downstream_gene_variant,,ENST00000323541,;CHID1,downstream_gene_variant,,ENST00000336845,;CHID1,downstream_gene_variant,,ENST00000436108,NM_001142674.1;CHID1,downstream_gene_variant,,ENST00000528581,;CHID1,downstream_gene_variant,,ENST00000429789,NM_001142677.1;TSPAN4,downstream_gene_variant,,ENST00000527644,;TSPAN4,downstream_gene_variant,,ENST00000525334,;TSPAN4,downstream_gene_variant,,ENST00000530404,;CHID1,downstream_gene_variant,,ENST00000529539,;TSPAN4,downstream_gene_variant,,ENST00000532375,;CHID1,downstream_gene_variant,,ENST00000526714,;TSPAN4,non_coding_transcript_exon_variant,,ENST00000468468,;TSPAN4,non_coding_transcript_exon_variant,,ENST00000464987,;TSPAN4,non_coding_transcript_exon_variant,,ENST00000494815,;CHID1,downstream_gene_variant,,ENST00000534207,;TSPAN4,downstream_gene_variant,,ENST00000529566,;CHID1,downstream_gene_variant,,ENST00000532909,;CHID1,downstream_gene_variant,,ENST00000524538,;TSPAN4,downstream_gene_variant,,ENST00000526055,;TSPAN4,downstream_gene_variant,,ENST00000524895,;CHID1,downstream_gene_variant,,ENST00000528521,;	uc001lsd.1	c.687A>G	912/1423	3	3			c.687A>G						11	SNP	c.(685-687)CAA>CAG	55	55			breast(1)	1	Broad	tetraspanin 4 isoform a			866600		0.642	ENSG00000214063	16399	g.chr11:866600A>G	protein complex assembly	integral to plasma membrane								24.282864	KEEP	5	5	-1	17	17	5	5	-1	26.64688	17	17	0.228571	1	0	0	0	0	0	0	1	0	--	--		0	G			TSPAN4_uc001lse.1_Silent_p.Q165Q|TSPAN4_uc001lsf.1_Silent_p.Q229Q|TSPAN4_uc001lsg.1_Silent_p.Q229Q|TSPAN4_uc001lsh.1_Silent_p.Q229Q|TSPAN4_uc001lsi.1_Silent_p.Q229Q|TSPAN4_uc001lsj.1_Silent_p.Q229Q	159	GBM-19-1390-TP	p.Q229Q	A	TGTACTGCCAAGTGGTCAAGG	NM_003271	NP_003262	866600	O14817	TSN4_HUMAN	0		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	9	896	+	G	G		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Silent	229			Cytoplasmic (Potential).			
TSPAN8	0	broad.mit.edu	GRCh37	12	71523126	71523126	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-32-5222-01	TCGA-32-5222-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000247829.3:c.645A>G	p.Gly215=	p.G215=	ENST00000247829	NM_004616.2	215	ggA/ggG	0			1			C	G	uc009zrt.1	protein_coding		CCDS8999.1			645/714									skin(2)|lung(1)|central_nervous_system(1)	4	c.(643-645)GGA>GGG			Transmembrane_helices:TMhelix,hmmpanther:PTHR19282:SF33,hmmpanther:PTHR19282,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,Prints_domain:PR00259	transmembrane 4 superfamily member 3				ENSP00000247829		9-Aug									COSM3399072	9-Aug	.		ENST00000247829	Transcript			protein glycosylation	integral to membrane|lysosome	signal transducer activity	ENSG00000127324	g.chr12:71523126T>C	11855			LOW								--	--	1																																		TSPAN8_uc001swk.1_Silent_p.G215G|TSPAN8_uc001swj.1_Silent_p.G215G	1				p.G215G	NM_004616	NP_004607			1	TSN8_HUMAN	TSPAN8	HGNC	P19075	TSN8_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)				7	807	-			UPI000003EE40	215			Helical; (Potential).		SNV	TSPAN8,synonymous_variant,p.=,ENST00000393330,;TSPAN8,synonymous_variant,p.=,ENST00000247829,NM_004616.2;TSPAN8,synonymous_variant,p.=,ENST00000546561,;TSPAN8,synonymous_variant,p.=,ENST00000552128,;	uc009zrt.1	c.645A>G	924/1227	3	3			c.645A>G						12	SNP	c.(643-645)GGA>GGG	51	51			skin(2)|lung(1)|central_nervous_system(1)	4	Broad	transmembrane 4 superfamily member 3			71523126		0.274	ENSG00000127324	16403	g.chr12:71523126T>C	protein glycosylation	integral to membrane|lysosome	signal transducer activity			6			6	134.18244	KEEP	15	33	-1	68	70	15	33	-1	142.17435	68	70	0.264151	1	0	0	0	0	0	0	1	0	--	--		0	C			TSPAN8_uc001swk.1_Silent_p.G215G|TSPAN8_uc001swj.1_Silent_p.G215G	249	GBM-32-5222-TP	p.G215G	T	TAACTGCCAGTCCAAATGATA	NM_004616	NP_004607	71523126	P19075	TSN8_HUMAN	0	LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)		7	807	-	C	C			Silent	215			Helical; (Potential).			
TSPAN9	10867	broad.mit.edu	GRCh37	12	3387673	3387673	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0132-01	TCGA-06-0132-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000011898.5:c.150G>A	p.Ser50=	p.S50=	ENST00000011898	NM_006675.4	50	tcG/tcA	0			1			A	S	uc001qlp.2	protein_coding	YES	CCDS8520.1			150/720									ovary(1)	1	c.(148-150)TCG>TCA			Prints_domain:PR00259,PIRSF_domain:PIRSF002419,Pfam_domain:PF00335,hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF41	tetraspanin 9				ENSP00000011898		9-Apr									COSM3398682	9-Apr	.		ENST00000011898	Transcript				integral to plasma membrane|membrane fraction		ENSG00000011105	g.chr12:3387673G>A	21640			LOW								--	--	1																																			1	1			p.S50S	NM_006675	NP_006666			1	TSN9_HUMAN	TSPAN9	HGNC	O75954	TSN9_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)				4	297	+			UPI000004F1F1	50			Extracellular (Potential).		SNV	TSPAN9,synonymous_variant,p.=,ENST00000011898,NM_006675.4;TSPAN9,synonymous_variant,p.=,ENST00000537971,NM_001168320.1;TSPAN9,synonymous_variant,p.=,ENST00000407263,;TSPAN9,non_coding_transcript_exon_variant,,ENST00000492305,;TSPAN9,non_coding_transcript_exon_variant,,ENST00000431374,;TSPAN9,3_prime_UTR_variant,,ENST00000444315,;	uc001qlp.2	c.150G>A	311/4323	1	1			c.150G>A						12	SNP	c.(148-150)TCG>TCA	62	62			ovary(1)	1	Broad	tetraspanin 9			3387673		0.597	ENSG00000011105	16404	g.chr12:3387673G>A		integral to plasma membrane|membrane fraction								-22.918643	KEEP	4	10	-1	132	112	4	10	-1	25.057355	132	112	0.059322	1	0	0	0	0	0	0	1	0	--	--		0	A				17	GBM-06-0132-TP	p.S50S	G	GCTTCCCTTCGTTGTCTGCAG	NM_006675	NP_006666	3387673	O75954	TSN9_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)		4	297	+	A	A			Silent	50			Extracellular (Potential).			
TSPAN9	10867	broad.mit.edu	GRCh37	12	3388164	3388164	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0744-01	TCGA-06-0744-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000011898.5:c.262A>G	p.Ile88Val	p.I88V	ENST00000011898	NM_006675.4	88	Atc/Gtc	0			1			G	I/V	uc001qlp.2	protein_coding	YES	CCDS8520.1			262/720									ovary(1)	1	c.(262-264)ATC>GTC			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Prints_domain:PR00259,PIRSF_domain:PIRSF002419,Pfam_domain:PF00335,hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF41	tetraspanin 9				ENSP00000011898		9-May									COSM2151637	9-May	.		ENST00000011898	Transcript				integral to plasma membrane|membrane fraction		ENSG00000011105	g.chr12:3388164A>G	21640			MODERATE		0.77	neutral	getma.org/?cm=msa&ty=f&p=TSN9_HUMAN&rb=8&re=230&var=I88V	NA	getma.org/?cm=var&var=hg19,12,3388164,A,G&fts=all	I88V	--	--	1																																			1	1		benign(0.007)	p.I88V	NM_006675	NP_006666		tolerated(0.67)	1	TSN9_HUMAN	TSPAN9	HGNC	O75954	TSN9_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)				5	409	+			UPI000004F1F1	88			Helical; (Potential).		SNV	TSPAN9,missense_variant,p.Ile88Val,ENST00000011898,NM_006675.4;TSPAN9,missense_variant,p.Ile88Val,ENST00000537971,NM_001168320.1;TSPAN9,missense_variant,p.Ile88Val,ENST00000407263,;TSPAN9,non_coding_transcript_exon_variant,,ENST00000492305,;TSPAN9,non_coding_transcript_exon_variant,,ENST00000431374,;TSPAN9,3_prime_UTR_variant,,ENST00000444315,;	uc001qlp.2	c.262A>G	423/4323	4	4			c.262A>G						12	SNP	c.(262-264)ATC>GTC	18	18			ovary(1)	1	Broad	tetraspanin 9			3388164		0.552	ENSG00000011105	16404	g.chr12:3388164A>G		integral to plasma membrane|membrane fraction								114.188658	KEEP	25	16	-1	31	24	25	16	-1	114.553109	31	24	0.431818	1	0	0	0	0	1	0	0	0	--	--		0	G				66	GBM-06-0744-TP	p.I88V	A	CCAGTTTTTCATCGTCCTGTT	NM_006675	NP_006666	3388164	O75954	TSN9_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)		5	409	+	G	G			Missense_Mutation	88			Helical; (Potential).			
TSPEAR	54084	broad.mit.edu	GRCh37	21	45948429	45948429	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323084.4:c.828G>A	p.Pro276=	p.P276=	ENST00000323084	NM_001272037.1	276	ccG/ccA	0	T:0.0002		1			T	P	uc002zfe.1	protein_coding	YES	CCDS13712.1			828/2010										0	c.(826-828)CCG>CCA			hmmpanther:PTHR15261	chromosome 21 open reading frame 29 precursor			T:0	ENSP00000321987		12-Jun	5.77E-05	0.000289				6.01E-05			rs371022077,COSM1307878	12-Jun	.		ENST00000323084	Transcript	1		cell adhesion	extracellular region	structural molecule activity	ENSG00000175894	g.chr21:45948429C>T	1268			LOW								--	--	1																																		C21orf29_uc010gpv.1_Silent_p.P208P	0,1	1			p.P276P	NM_144991	NP_659428			0,1	TSEAR_HUMAN	TSPEAR	HGNC	Q8WU66	TSEAR_HUMAN					6	894	-			UPI0000137746	276					SNV	TSPEAR,synonymous_variant,p.=,ENST00000323084,NM_001272037.1,NM_144991.2;TSPEAR,synonymous_variant,p.=,ENST00000397916,;C21orf90,downstream_gene_variant,,ENST00000465978,;	uc002zfe.1	c.828G>A	894/3967	2	2			c.828G>A						21	SNP	c.(826-828)CCG>CCA	33	33				0	Broad	chromosome 21 open reading frame 29 precursor			45948429		0.577	ENSG00000175894	2080	g.chr21:45948429C>T	cell adhesion	extracellular region	structural molecule activity							130.784963	KEEP	17	28	-1	39	28	17	28	-1	131.744454	39	28	0.4	1	0	0	0	0	0	0	1	0	--	--		0	T			C21orf29_uc010gpv.1_Silent_p.P208P	23	GBM-06-0145-TP	p.P276P	C	CCTCGGTACACGGTGGCTGGG	NM_144991	NP_659428	45948429	Q8WU66	TSEAR_HUMAN	0			6	894	-	T	T			Silent	276						
TSPEAR	0	broad.mit.edu	GRCh37	21	45949800	45949800	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-1390-01	TCGA-19-1390-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323084.4:c.671A>G	p.Asp224Gly	p.D224G	ENST00000323084	NM_001272037.1	224	gAc/gGc	0			1			C	D/G	uc002zfe.1	protein_coding	YES	CCDS13712.1			671/2010										0	c.(670-672)GAC>GGC			Superfamily_domains:SSF49899,hmmpanther:PTHR15261	chromosome 21 open reading frame 29 precursor				ENSP00000321987		12-May									COSM3405451	12-May	.		ENST00000323084	Transcript	1		cell adhesion	extracellular region	structural molecule activity	ENSG00000175894	g.chr21:45949800T>C	1268			MODERATE		2.455	medium	getma.org/?cm=msa&ty=f&p=TSEAR_HUMAN&rb=28&re=237&var=D224G	NA	getma.org/?cm=var&var=hg19,21,45949800,T,C&fts=all	D224G	--	--	1																																		C21orf29_uc010gpv.1_Missense_Mutation_p.D156G	1	1		probably_damaging(0.931)	p.D224G	NM_144991	NP_659428		deleterious(0.01)	1	TSEAR_HUMAN	TSPEAR	HGNC	Q8WU66	TSEAR_HUMAN					5	737	-			UPI0000137746	224					SNV	TSPEAR,missense_variant,p.Asp224Gly,ENST00000323084,NM_001272037.1,NM_144991.2;TSPEAR,missense_variant,p.Asp156Gly,ENST00000397916,;C21orf90,downstream_gene_variant,,ENST00000465978,;	uc002zfe.1	c.671A>G	737/3967	4	4			c.671A>G						21	SNP	c.(670-672)GAC>GGC	42	42				0	Broad	chromosome 21 open reading frame 29 precursor			45949800		0.677	ENSG00000175894	2080	g.chr21:45949800T>C	cell adhesion	extracellular region	structural molecule activity							65.791556	KEEP	10	11	-1	13	17	10	11	-1	66.018961	13	17	0.425532	1	0	0	0	0	1	0	0	0	--	--		0	C			C21orf29_uc010gpv.1_Missense_Mutation_p.D156G	159	GBM-19-1390-TP	p.D224G	T	TGGGGTGGCGTCTGAGCCCGG	NM_144991	NP_659428	45949800	Q8WU66	TSEAR_HUMAN	0			5	737	-	C	C			Missense_Mutation	224						
TSPEAR	0	broad.mit.edu	GRCh37	21	45945664	45945664	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-4211-01	TCGA-32-4211-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323084.4:c.1208T>C	p.Ile403Thr	p.I403T	ENST00000323084	NM_001272037.1	403	aTt/aCt	0			1			G	I/T	uc002zfe.1	protein_coding	YES	CCDS13712.1			1208/2010										0	c.(1207-1209)ATT>ACT			Pfam_domain:PF03736,hmmpanther:PTHR15261,PROSITE_profiles:PS50912	chromosome 21 open reading frame 29 precursor				ENSP00000321987		12-Aug	8.24E-06							6.06E-05	rs782802752,COSM3405449	12-Aug	.		ENST00000323084	Transcript	1		cell adhesion	extracellular region	structural molecule activity	ENSG00000175894	g.chr21:45945664A>G	1268			MODERATE		2.365	medium	getma.org/?cm=msa&ty=f&p=TSEAR_HUMAN&rb=359&re=408&var=I403T	NA	getma.org/?cm=var&var=hg19,21,45945664,A,G&fts=all	I403T	--	--	1																																		C21orf29_uc010gpv.1_Missense_Mutation_p.I335T	0,1	1		probably_damaging(0.995)	p.I403T	NM_144991	NP_659428		deleterious(0)	0,1	TSEAR_HUMAN	TSPEAR	HGNC	Q8WU66	TSEAR_HUMAN					8	1274	-			UPI0000137746	403			EAR 2.		SNV	TSPEAR,missense_variant,p.Ile403Thr,ENST00000323084,NM_001272037.1,NM_144991.2;TSPEAR,missense_variant,p.Ile335Thr,ENST00000397916,;C21orf90,downstream_gene_variant,,ENST00000354333,;C21orf90,intron_variant,,ENST00000465978,;	uc002zfe.1	c.1208T>C	1274/3967	4	4			c.1208T>C						21	SNP	c.(1207-1209)ATT>ACT	21	21				0	Broad	chromosome 21 open reading frame 29 precursor			45945664		0.522	ENSG00000175894	2080	g.chr21:45945664A>G	cell adhesion	extracellular region	structural molecule activity							-115.105811	KEEP	4	6	-1	244	321	4	6	-1	14.074877	244	321	0.014523	1	0	0	0	0	1	0	0	0	--	--		0	G			C21orf29_uc010gpv.1_Missense_Mutation_p.I335T	246	GBM-32-4211-TP	p.I403T	A	CCATTTGTAAATGACAGAGAA	NM_144991	NP_659428	45945664	Q8WU66	TSEAR_HUMAN	0			8	1274	-	G	G			Missense_Mutation	403			EAR 2.			
TSPEAR	0	broad.mit.edu	GRCh37	21	45948411	45948411	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323084.4:c.846C>T	p.Asp282=	p.D282=	ENST00000323084	NM_001272037.1	282	gaC/gaT	0			1			A	D	uc002zfe.1	protein_coding	YES	CCDS13712.1			846/2010										0	c.(844-846)GAC>GAT			hmmpanther:PTHR15261	chromosome 21 open reading frame 29 precursor				ENSP00000321987		12-Jun									COSM3405450	12-Jun	.		ENST00000323084	Transcript	1		cell adhesion	extracellular region	structural molecule activity	ENSG00000175894	g.chr21:45948411G>A	1268			LOW								--	--	1																																		C21orf29_uc010gpv.1_Silent_p.D214D	1	1			p.D282D	NM_144991	NP_659428			1	TSEAR_HUMAN	TSPEAR	HGNC	Q8WU66	TSEAR_HUMAN					6	912	-			UPI0000137746	282					SNV	TSPEAR,synonymous_variant,p.=,ENST00000323084,NM_001272037.1,NM_144991.2;TSPEAR,synonymous_variant,p.=,ENST00000397916,;C21orf90,downstream_gene_variant,,ENST00000465978,;	uc002zfe.1	c.846C>T	912/3967	2	2			c.846C>T						21	SNP	c.(844-846)GAC>GAT	26	26				0	Broad	chromosome 21 open reading frame 29 precursor			45948411		0.607	ENSG00000175894	2080	g.chr21:45948411G>A	cell adhesion	extracellular region	structural molecule activity							165.039072	KEEP	26	36	-1	44	56	26	36	-1	166.410989	44	56	0.398693	1	0	0	0	0	0	0	1	0	--	--		0	A			C21orf29_uc010gpv.1_Silent_p.D214D	271	GBM-76-4932-TP	p.D282D	G	AGAACTGGGCGTCTTCCACCT	NM_144991	NP_659428	45948411	Q8WU66	TSEAR_HUMAN	0			6	912	-	A	A			Silent	282						
TSPEAR	54084		GRCh37	21	45948429	45948429	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000323084.4:c.828G>A	p.Pro276=	p.P276=	ENST00000323084	NM_001272037.1	276	ccG/ccA	0																																																																																																																																																																																																																																												
TSPEAR	54084		GRCh37	21	45919792	45919792	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000323084.4:c.1884G>A	p.Ala628=	p.A628=	ENST00000323084	NM_001272037.1	628	gcG/gcA	0																																																																																																																																																																																																																																												
TSPYL6	388951	broad.mit.edu	GRCh37	2	54483145	54483145	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-06-0158-01	TCGA-06-0158-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317802.7:c.144G>C	p.Val48=	p.V48=	ENST00000317802	NM_001003937.2	48	gtG/gtC	0			1			G	V	uc002rxr.2	protein_coding	YES	CCDS42682.1			144/1233										0	c.(142-144)GTG>GTC				TSPY-like 6				ENSP00000417919		1-Jan									COSM3407912	1-Jan	.		ENST00000317802	Transcript			nucleosome assembly	nucleus		ENSG00000178021	g.chr2:54483145C>G	14521			LOW								--	--	1																																		ACYP2_uc002rxq.3_Intron	1	1			p.V48V	NM_001003937	NP_001003937			1	TSYL6_HUMAN	TSPYL6	HGNC	Q8N831	TSYL6_HUMAN					1	265	-			UPI000006CF77	48					SNV	TSPYL6,synonymous_variant,p.=,ENST00000317802,NM_001003937.2;ACYP2,intron_variant,,ENST00000394666,NM_138448.3;ACYP2,intron_variant,,ENST00000607452,;ACYP2,intron_variant,,ENST00000303536,;ACYP2,intron_variant,,ENST00000606865,;ACYP2,intron_variant,,ENST00000494922,;	uc002rxr.2	c.144G>C	265/3095	4	4			c.144G>C						2	SNP	c.(142-144)GTG>GTC	29	29				0	Broad	TSPY-like 6			54483145		0.607	ENSG00000178021	16413	g.chr2:54483145C>G	nucleosome assembly	nucleus								212.786754	KEEP	44	30	-1	64	64	44	30	-1	215.187472	64	64	0.372781	1	0	0	0	0	0	0	1	0	--	--		0	G			ACYP2_uc002rxq.3_Intron	29	GBM-06-0158-TP	p.V48V	C	GCGGTGGGAACACGATTGGCT	NM_001003937	NP_001003937	54483145	Q8N831	TSYL6_HUMAN	0			1	265	-	G	G			Silent	48						
TSR2	0	broad.mit.edu	GRCh37	X	54467162	54467162	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01	TCGA-41-3393-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375151.4:c.121G>A	p.Glu41Lys	p.E41K	ENST00000375151	NM_058163.1	41	Gag/Aag	0			1			A	E/K	uc004dte.2	protein_coding	YES	CCDS14358.1			121/576										0	c.(121-123)GAG>AAG			hmmpanther:PTHR21250:SF0,hmmpanther:PTHR21250,Pfam_domain:PF10273	TSR2, 20S rRNA accumulation, homolog				ENSP00000364293		5-Feb									COSM3406490	5-Feb	.		ENST00000375151	Transcript	1		rRNA processing		protein binding	ENSG00000158526	g.chrX:54467162G>A	25455			MODERATE		2.515	medium	getma.org/?cm=msa&ty=f&p=TSR2_HUMAN&rb=11&re=92&var=E41K	NA	getma.org/?cm=var&var=hg19,X,54467162,G,A&fts=all	E41K	--	--	1																																		TSR2_uc004dtf.2_Intron	1	1		probably_damaging(0.997)	p.E41K	NM_058163	NP_477511		deleterious(0.01)	1	TSR2_HUMAN	TSR2	HGNC	Q969E8	TSR2_HUMAN					2	123	+			UPI0000039EBD	41					SNV	TSR2,missense_variant,p.Glu41Lys,ENST00000375151,NM_058163.1;FGD1,downstream_gene_variant,,ENST00000375135,NM_004463.2;	uc004dte.2	c.121G>A	142/1534	2	2			c.121G>A						23	SNP	c.(121-123)GAG>AAG	28	28				0	Broad	TSR2, 20S rRNA accumulation, homolog			54467162		0.607	ENSG00000158526	16415	g.chrX:54467162G>A	rRNA processing		protein binding							58.575097	KEEP	10	21	-1	42	40	10	21	-1	61.525182	42	40	0.294872	1	0	0	0	0	1	0	0	0	--	--		0	A			TSR2_uc004dtf.2_Intron	255	GBM-41-3393-TP	p.E41K	G	GCACAGCCAGGAGAAGGCCAA	NM_058163	NP_477511	54467162	Q969E8	TSR2_HUMAN	0			2	123	+	A	A			Missense_Mutation	41						
TSSC1	0	broad.mit.edu	GRCh37	2	3193249	3193249	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2619-01	TCGA-19-2619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382125.4:c.1020C>T	p.Ile340=	p.I340=	ENST00000382125	NM_003310.2	340	atC/atT	0			1			A	I	uc002qxj.2	protein_coding	YES	CCDS1651.1			1020/1164										0	c.(1018-1020)ATC>ATT			Superfamily_domains:0049172,SMART_domains:SM00320,Gene3D:2.130.10.10,Pfam_domain:PF00400,hmmpanther:PTHR14205:SF15,hmmpanther:PTHR14205	tumor suppressing subtransferable candidate 1				ENSP00000371559		9-Sep	8.33E-06					4.01E-05			rs764941167,COSM3407824	9-Sep	.		ENST00000382125	Transcript					protein binding	ENSG00000032389	g.chr2:3193249G>A	12383			LOW								--	--	1																																		TSSC1_uc002qxi.2_RNA	0,1	1			p.I340I	NM_003310	NP_003301			0,1	TSSC1_HUMAN	TSSC1	HGNC	Q53HC9	TSSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)			9	1213	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)	UPI000006DFE1	340					SNV	TSSC1,synonymous_variant,p.=,ENST00000398659,;TSSC1,synonymous_variant,p.=,ENST00000382125,NM_003310.2;TSSC1,downstream_gene_variant,,ENST00000441271,;TSSC1,non_coding_transcript_exon_variant,,ENST00000478754,;TSSC1,downstream_gene_variant,,ENST00000463662,;TSSC1,3_prime_UTR_variant,,ENST00000455162,;TSSC1,non_coding_transcript_exon_variant,,ENST00000496433,;TSSC1,downstream_gene_variant,,ENST00000435721,;TSSC1,downstream_gene_variant,,ENST00000482570,;	uc002qxj.2	c.1020C>T	1213/1766	2	2			c.1020C>T						2	SNP	c.(1018-1020)ATC>ATT	48	48				0	Broad	tumor suppressing subtransferable candidate 1			3193249		0.657	ENSG00000032389	16416	g.chr2:3193249G>A			protein binding	Colon(140;1261 1762 4183 34270 49743)			Colon(140;1261 1762 4183 34270 49743)			12.198094	KEEP	2	3	-1	2	4	2	3	-1	12.285524	2	4	0.4	1	0	0	0	0	0	0	1	0	--	--		0	A			TSSC1_uc002qxi.2_RNA	161	GBM-19-2619-TP	p.I340I	G	CGTAGGTGGCGATCACGTTGT	NM_003310	NP_003301	3193249	Q53HC9	TSSC1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)	9	1213	-	A	A	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)	Silent	340						
TSSK1B	0	broad.mit.edu	GRCh37	5	112769636	112769636	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01	TCGA-12-3649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000390666.3:c.901G>A	p.Glu301Lys	p.E301K	ENST00000390666	NM_032028.3	301	Gaa/Aaa	0	T:0	T:0	1	T:0		T	E/K	uc003kqm.2	protein_coding	YES	CCDS4112.1			901/1104									ovary(2)|skin(2)|stomach(1)	5	c.(901-903)GAA>AAA			hmmpanther:PTHR24343:SF76,hmmpanther:PTHR24343,Gene3D:1.10.510.10	testis-specific serine kinase 1		T:0	T:0.0001	ENSP00000375081	T:0	1-Jan	0.000116	0.000102		0.000116		6.02E-05		0.000488	rs371461523,COSM1059725,COSM1059724	1-Jan	common_variant		ENST00000390666	Transcript		T:0.0002	cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	ENSG00000212122	g.chr5:112769636C>T	14968			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TSSK1_HUMAN&rb=273&re=367&var=E301K	NA	getma.org/?cm=var&var=hg19,5,112769636,C,T&fts=all	E301K	--	--	1																																		MCC_uc003kql.3_Intron	0,1,1	1		benign(0.003)	p.E301K	NM_032028	NP_114417	T:0.001	tolerated_low_confidence(0.25)	0,1,1	TSSK1_HUMAN	TSSK1B	HGNC	Q9BXA7	TSSK1_HUMAN		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)	A0ZT98_HUMAN		1	1093	-		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)	UPI000003C96E	301					SNV	TSSK1B,missense_variant,p.Glu301Lys,ENST00000390666,NM_032028.3;MCC,intron_variant,,ENST00000408903,NM_001085377.1;CTD-2201G3.1,non_coding_transcript_exon_variant,,ENST00000416046,;CTD-2201G3.1,non_coding_transcript_exon_variant,,ENST00000383058,;CTD-2201G3.1,upstream_gene_variant,,ENST00000510381,;	uc003kqm.2	c.901G>A	1093/2478	2	2			c.901G>A						5	SNP	c.(901-903)GAA>AAA	28	28			ovary(2)|skin(2)|stomach(1)	5	Broad	testis-specific serine kinase 1			112769636		0.622	ENSG00000212122	16418	g.chr5:112769636C>T	cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			32			32	25.831507	KEEP	9	2	-1	21	15	9	2	-1	28.280713	21	15	0.243902	1	0	0	0	0	1	0	0	0	--	--		0	T			MCC_uc003kql.3_Intron	125	GBM-12-3649-TP	p.E301K	C	GAGCCAGGTTCGGGGGTCCAC	NM_032028	NP_114417	112769636	Q9BXA7	TSSK1_HUMAN	0		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)	1	1093	-	T	T		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)	Missense_Mutation	301						
TSSK2	23617	broad.mit.edu	GRCh37	22	19119833	19119833	+	synonymous_variant	Silent	SNP	C	C	T	rs150037057		TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399635.2:c.921C>T	p.Pro307=	p.P307=	ENST00000399635	NM_053006.4	307	ccC/ccT	0	T:0	T:0	1	T:0		T	P	uc002zow.2	protein_coding	YES	CCDS13755.1			921/1077									stomach(1)	1	c.(919-921)CCC>CCT			Gene3D:1.10.510.10	testis-specific serine kinase 2		T:0.001	T:0.0001	ENSP00000382544	T:0	1-Jan	3.30E-05			0.000117		1.55E-05		0.000121	rs150037057,COSM3405506	1-Jan	.		ENST00000399635	Transcript		T:0.0004	cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	ENSG00000206203	g.chr22:19119833C>T	11401			LOW								--	--	1																																		DGCR14_uc002zot.2_3'UTR|DGCR14_uc002zou.2_3'UTR|DGCR14_uc002zov.2_RNA	0,1	1			p.P307P	NM_053006	NP_443732	T:0.001		0,1	TSSK2_HUMAN	TSSK2	HGNC	Q96PF2	TSSK2_HUMAN			A0ZT99_HUMAN		1	1513	+	Colorectal(54;0.0993)		UPI000004FD58	307					SNV	TSSK2,synonymous_variant,p.=,ENST00000399635,NM_053006.4;DGCR14,3_prime_UTR_variant,,ENST00000252137,NM_022719.2;AC004471.10,upstream_gene_variant,,ENST00000609936,;DGCR14,downstream_gene_variant,,ENST00000472073,;DGCR14,downstream_gene_variant,,ENST00000434568,;	uc002zow.2	c.921C>T	1513/1814	2	2			c.921C>T						22	SNP	c.(919-921)CCC>CCT	32	32			stomach(1)	1	Broad	testis-specific serine kinase 2			19119833		0.637	ENSG00000206203	16419	g.chr22:19119833C>T	cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			13			13	119.507167	KEEP	18	23	-1	13	8	18	23	-1	121.180746	13	8	0.685185	1	0	0	0	0	0	0	1	0	--	--		0	T			DGCR14_uc002zot.2_3'UTR|DGCR14_uc002zou.2_3'UTR|DGCR14_uc002zov.2_RNA	102	GBM-06-5858-TP	p.P307P	C	GCTTGAGGCCCGACCACCGGC	NM_053006	NP_443732	19119833	Q96PF2	TSSK2_HUMAN	0			1	1513	+	T	T	Colorectal(54;0.0993)		Silent	307						
TSSK3	0	broad.mit.edu	GRCh37	1	32828323	32828323	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-19-5950-01	TCGA-19-5950-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373534.3:c.21C>A	p.Ser7=	p.S7=	ENST00000373534	NM_052841.3	7	tcC/tcA	0			1			A	S	uc001bvf.2	protein_coding	YES	CCDS362.1			21/807									stomach(1)	1	c.(19-21)TCC>TCA			Gene3D:3.30.200.20,hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF74,Superfamily_domains:SSF56112	testis-specific serine kinase 3				ENSP00000362634		2-Jan									COSM2156576	2-Jan	.		ENST00000373534	Transcript			cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	ENSG00000162526	g.chr1:32828323C>A	15473			LOW								--	--	1																																		uc001bve.1_RNA	1	1			p.S7S	NM_052841	NP_443073			1	TSSK3_HUMAN	TSSK3	HGNC	Q96PN8	TSSK3_HUMAN			I3L1X4_HUMAN		1	462	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)	UPI000004466F	7					SNV	TSSK3,synonymous_variant,p.=,ENST00000373534,NM_052841.3;TSSK3,intron_variant,,ENST00000574315,;BSDC1,downstream_gene_variant,,ENST00000341071,;BSDC1,downstream_gene_variant,,ENST00000455895,NM_018045.6,NM_001143888.1;BSDC1,downstream_gene_variant,,ENST00000413080,;BSDC1,downstream_gene_variant,,ENST00000446293,;BSDC1,downstream_gene_variant,,ENST00000419121,NM_001143889.1;BSDC1,downstream_gene_variant,,ENST00000526031,NM_001143890.1;FAM229A,upstream_gene_variant,,ENST00000432622,NM_001167676.1;FAM229A,upstream_gene_variant,,ENST00000428500,;FAM229A,intron_variant,,ENST00000415596,;FAM229A,non_coding_transcript_exon_variant,,ENST00000416512,;BSDC1,downstream_gene_variant,,ENST00000444377,;	uc001bvf.2	c.21C>A	526/1368	1	1			c.21C>A						1	SNP	c.(19-21)TCC>TCA	51	51			stomach(1)	1	Broad	testis-specific serine kinase 3			32828323		0.502	ENSG00000162526	16420	g.chr1:32828323C>A	cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			55			55	114.676517	KEEP	21	23	0.522727273	27	28	21	23	0.522727273	115.36455	27	28	0.406593	1	0	0	0	0	0	0	1	0	--	--		0	A			uc001bve.1_RNA	170	GBM-19-5950-TP	p.S7S	C	TTCTGCTCTCCAATGGGTACC	NM_052841	NP_443073	32828323	Q96PN8	TSSK3_HUMAN	0			1	462	+	A	A		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)	Silent	7						
TTBK1	0	broad.mit.edu	GRCh37	6	43222352	43222352	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259750.4:c.539C>T	p.Ala180Val	p.A180V	ENST00000259750	NM_032538.1	180	gCc/gTc	0			1			T	A/V	uc003ouq.1	protein_coding	YES	CCDS34455.1			539/3966									lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9	c.(538-540)GCC>GTC			Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR11909:SF92,hmmpanther:PTHR11909,PROSITE_profiles:PS50011	tau tubulin kinase 1				ENSP00000259750		15-Jun									COSM3411114	15-Jun	.		ENST00000259750	Transcript				cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	ENSG00000146216	g.chr6:43222352C>T	19140			MODERATE		2.655	medium	getma.org/?cm=msa&ty=f&p=TTBK1_HUMAN&rb=34&re=300&var=A180V	getma.org/pdb.php?prot=TTBK1_HUMAN&from=34&to=300&var=A180V	getma.org/?cm=var&var=hg19,6,43222352,C,T&fts=all	A180V	--	--	1																																			1	1		possibly_damaging(0.895)	p.A180V	NM_032538	NP_115927			1	TTBK1_HUMAN	TTBK1	HGNC	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)				6	818	+			UPI000041512B	180			Protein kinase.		SNV	TTBK1,missense_variant,p.Ala180Val,ENST00000259750,NM_032538.1;TTBK1,missense_variant,p.Ala129Val,ENST00000304139,;	uc003ouq.1	c.539C>T	622/6932	2	2			c.539C>T						6	SNP	c.(538-540)GCC>GTC	24	24			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9	Broad	tau tubulin kinase 1			43222352		0.652	ENSG00000146216	16426	g.chr6:43222352C>T		cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			85			85	-32.5219	KEEP	5	1	-1	88	99	5	1	-1	8.234934	88	99	0.029762	1	0	0	0	0	1	0	0	0	--	--		0	T				218	GBM-28-5209-TP	p.A180V	C	TTCGGGCTGGCCCGGCAGTAC	NM_032538	NP_115927	43222352	Q5TCY1	TTBK1_HUMAN	0	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		6	818	+	T	T			Missense_Mutation	180			Protein kinase.			
TTBK2	146057	broad.mit.edu	GRCh37	15	43038437	43038437	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0192-01	TCGA-06-0192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267890.6:c.3291C>T	p.Val1097=	p.V1097=	ENST00000267890	NM_173500.3	1097	gtC/gtT	0			1			A	V	uc001zqo.2	protein_coding	YES	CCDS42029.1			3291/3735									ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1)	7	c.(3289-3291)GTC>GTT				tau tubulin kinase 2				ENSP00000267890		15/15	8.28E-06					1.52E-05			rs774600774,COSM2150678	15/15	.		ENST00000267890	Transcript	1		cell death		ATP binding|protein serine/threonine kinase activity	ENSG00000128881	g.chr15:43038437G>A	19141			LOW								--	--	1																																		TTBK2_uc010bcy.2_Silent_p.V1028V|uc001zqn.2_5'Flank	0,1	1			p.V1097V	NM_173500	NP_775771			0,1	TTBK2_HUMAN	TTBK2	HGNC	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	H3BTY5_HUMAN		15	3730	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	UPI0000043542	1097					SNV	TTBK2,synonymous_variant,p.=,ENST00000267890,NM_173500.3;CTD-2036P10.3,downstream_gene_variant,,ENST00000500850,;CTD-2036P10.3,downstream_gene_variant,,ENST00000567456,;	uc001zqo.2	c.3291C>T	3400/10905	2	2			c.3291C>T						15	SNP	c.(3289-3291)GTC>GTT	35	35			ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1)	7	Broad	tau tubulin kinase 2			43038437		0.393	ENSG00000128881	16427	g.chr15:43038437G>A	cell death		ATP binding|protein serine/threonine kinase activity			253			253	51.403446	KEEP	12	9	-1	24	18	12	9	-1	52.933352	24	18	0.327586	1	0	0	0	0	0	0	1	0	--	--		0	A			TTBK2_uc010bcy.2_Silent_p.V1028V|uc001zqn.2_5'Flank	44	GBM-06-0192-TP	p.V1097V	G	TACTCCCTAGGACTTTATATC	NM_173500	NP_775771	43038437	Q6IQ55	TTBK2_HUMAN	0		GBM - Glioblastoma multiforme(94;3.23e-07)	15	3730	-	A	A		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	Silent	1097						
TTC12	54970	broad.mit.edu	GRCh37	11	113233171	113233171	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01	TCGA-06-0213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000529221.1:c.1663G>A	p.Val555Ile	p.V555I	ENST00000529221	NM_017868.3	555	Gtt/Att	0			1			A	V/I	uc001pnu.2	protein_coding	YES	CCDS8360.2			1663/2118									pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	c.(1663-1665)GTT>ATT			hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF319,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	tetratricopeptide repeat domain 12				ENSP00000433757		19/22									COSM2150875,COSM3397415	19/22	.		ENST00000529221	Transcript					binding	ENSG00000149292	g.chr11:113233171G>A	23700			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=TTC12_HUMAN&rb=408&re=607&var=V555I	NA	getma.org/?cm=var&var=hg19,11,113233171,G,A&fts=all	V555I	--	--	1																																		TTC12_uc001pnv.2_Missense_Mutation_p.V561I|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Missense_Mutation_p.V405I	1,1	1		benign(0.033)	p.V555I	NM_017868	NP_060338		tolerated(0.15)	1,1	TTC12_HUMAN	TTC12	HGNC	Q9H892	TTC12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)	E9PIS6_HUMAN,C9JYU1_HUMAN,C9JPY5_HUMAN,C9J1D2_HUMAN,A8K8G6_HUMAN		19	1768	+		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	UPI000013F914	555					SNV	TTC12,missense_variant,p.Val555Ile,ENST00000393020,;TTC12,missense_variant,p.Val555Ile,ENST00000529221,NM_017868.3;TTC12,missense_variant,p.Val555Ile,ENST00000314756,;TTC12,missense_variant,p.Val561Ile,ENST00000483239,;TTC12,downstream_gene_variant,,ENST00000478125,;TTC12,upstream_gene_variant,,ENST00000480233,;TTC12,missense_variant,p.Val555Ile,ENST00000494714,;TTC12,3_prime_UTR_variant,,ENST00000464224,;TTC12,downstream_gene_variant,,ENST00000527362,;TTC12,upstream_gene_variant,,ENST00000496311,;TTC12,upstream_gene_variant,,ENST00000462711,;	uc001pnu.2	c.1663G>A	1768/2315	2	2			c.1663G>A						11	SNP	c.(1663-1665)GTT>ATT	29	29			pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Broad	tetratricopeptide repeat domain 12			113233171		0.428	ENSG00000149292	16429	g.chr11:113233171G>A			binding							56.213789	KEEP	22	7	-1	52	53	22	7	-1	63.167003	52	53	0.233645	1	0	0	0	0	1	0	0	0	--	--		0	A			TTC12_uc001pnv.2_Missense_Mutation_p.V561I|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Missense_Mutation_p.V405I	49	GBM-06-0213-TP	p.V555I	G	TCTGAAAATTGTTGAGGAGGC	NM_017868	NP_060338	113233171	Q9H892	TTC12_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)	19	1768	+	A	A		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	Missense_Mutation	555						
TTC13	79573	broad.mit.edu	GRCh37	1	231059600	231059600	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0876-01	TCGA-06-0876-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366661.4:c.1801del	p.Ile601LeufsTer3	p.I601Lfs*3	ENST00000366661	NM_024525.4	601	Att/tt	0			1			-	I/X	uc001huf.3	protein_coding	YES	CCDS1588.1			1801/2583									ovary(1)|skin(1)	2	c.(1801-1803)ATTfs			hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF363	tetratricopeptide repeat domain 13 isoform a				ENSP00000355621		15/23									COSM2152098	15/23	.		ENST00000366661	Transcript					binding	ENSG00000143643	g.chr1:231059600delT	26204			HIGH								--	--	1																																		TTC13_uc009xfi.2_Frame_Shift_Del_p.I548fs|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Frame_Shift_Del_p.I548fs|TTC13_uc009xfk.1_Frame_Shift_Del_p.I491fs	1	1			p.I601fs	NM_024525	NP_078801			1	TTC13_HUMAN	TTC13	HGNC	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	Q9H659_HUMAN,Q69YR0_HUMAN		15	1832	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	UPI000013D91C	601					deletion	TTC13,frameshift_variant,p.Ile601LeufsTer3,ENST00000366661,NM_024525.4;TTC13,frameshift_variant,p.Ile548LeufsTer3,ENST00000414259,;TTC13,frameshift_variant,p.Ile548LeufsTer3,ENST00000366662,NM_001122835.2;TTC13,frameshift_variant,p.Ile35LeufsTer3,ENST00000486879,;TTC13,upstream_gene_variant,,ENST00000471302,;	uc001huf.3	c.1801delA	1809/3253	5	5			c.1801delA						1	DEL	c.(1801-1803)ATTfs	53	53			ovary(1)|skin(1)	2	Broad	tetratricopeptide repeat domain 13 isoform a			231059600		0.438	ENSG00000143643	16430	g.chr1:231059600delT			binding																				0.4	1	1	0	1	0	0	0	0	0	--	--		0	-			TTC13_uc009xfi.2_Frame_Shift_Del_p.I548fs|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Frame_Shift_Del_p.I548fs|TTC13_uc009xfk.1_Frame_Shift_Del_p.I491fs	72	GBM-06-0876-TP	p.I601fs	T	ATTAAATTAATGTGGTTGTTA	NM_024525	NP_078801	231059600	Q8NBP0	TTC13_HUMAN	0		COAD - Colon adenocarcinoma(196;0.243)	15	1832	-	-	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	Frame_Shift_Del	601						
TTC14	151613		GRCh37	3	180321035	180321035	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000296015.4:c.410G>A	p.Arg137Gln	p.R137Q	ENST00000296015	NM_133462.3	137	cGg/cAg	0																																																																																																																																																																																																																																												
TTC16	158248	broad.mit.edu	GRCh37	9	130489287	130489287	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-0649-01	TCGA-06-0649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373289.3:c.1464G>T	p.Ser488=	p.S488=	ENST00000373289	NM_144965.1	488	tcG/tcT	0			1			T	S	uc004brq.1	protein_coding	YES	CCDS6875.1			1464/2622										0	c.(1462-1464)TCG>TCT			hmmpanther:PTHR23083:SF395,hmmpanther:PTHR23083	tetratricopeptide repeat domain 16				ENSP00000362386		14-Nov									COSM3413350	14-Nov	.		ENST00000373289	Transcript					binding	ENSG00000167094	g.chr9:130489287G>T	26536			LOW								--	--	1																																		PTRH1_uc011mah.1_5'Flank|TTC16_uc011mai.1_Silent_p.S475S|TTC16_uc004brr.1_Intron|TTC16_uc010mxn.1_Silent_p.S84S	1	1			p.S488S	NM_144965	NP_659402			1	TTC16_HUMAN	TTC16	HGNC	Q8NEE8	TTC16_HUMAN					11	1531	+			UPI000006FE14	488					SNV	TTC16,synonymous_variant,p.=,ENST00000373289,NM_144965.1;PTRH1,upstream_gene_variant,,ENST00000419060,;TOR2A,downstream_gene_variant,,ENST00000373281,NM_130459.3;TOR2A,downstream_gene_variant,,ENST00000458505,NM_001252021.1,NM_001252018.1,NM_001134431.2;TTC16,downstream_gene_variant,,ENST00000393748,;TOR2A,downstream_gene_variant,,ENST00000373284,NM_001085347.2;TOR2A,downstream_gene_variant,,ENST00000336067,NM_001134430.2;TTC16,non_coding_transcript_exon_variant,,ENST00000489226,;TTC16,non_coding_transcript_exon_variant,,ENST00000488285,;TOR2A,downstream_gene_variant,,ENST00000472723,;TOR2A,downstream_gene_variant,,ENST00000463577,;TOR2A,downstream_gene_variant,,ENST00000496460,;PTRH1,upstream_gene_variant,,ENST00000429848,;TOR2A,downstream_gene_variant,,ENST00000463256,;TOR2A,downstream_gene_variant,,ENST00000494135,;	uc004brq.1	c.1464G>T	1544/2897	2	2			c.1464G>T						9	SNP	c.(1462-1464)TCG>TCT	40	40				0	Broad	tetratricopeptide repeat domain 16			130489287		0.642	ENSG00000167094	16433	g.chr9:130489287G>T			binding							99.833021	KEEP	30	26	0.535714286	83	69	30	26	0.535714286	108.309424	83	69	0.268571	1	0	0	0	0	0	0	1	0	--	--		0	T			PTRH1_uc011mah.1_5'Flank|TTC16_uc011mai.1_Silent_p.S475S|TTC16_uc004brr.1_Intron|TTC16_uc010mxn.1_Silent_p.S84S	62	GBM-06-0649-TP	p.S488S	G	CGGGCATGTCGGTGGAGGAGG	NM_144965	NP_659402	130489287	Q8NEE8	TTC16_HUMAN	0			11	1531	+	T	T			Silent	488						
TTC17	55761	broad.mit.edu	GRCh37	11	43411222	43411222	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-5413-01	TCGA-06-5413-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000039989.4:c.270A>C	p.Lys90Asn	p.K90N	ENST00000039989	NM_018259.5	90	aaA/aaC	0			1			C	K/N	uc001mxi.2	protein_coding	YES	CCDS31466.1			270/3426									ovary(5)	5	c.(268-270)AAA>AAC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16091	tetratricopeptide repeat domain 17				ENSP00000039989		24-Mar									COSM2153187,COSM3397676	24-Mar	.		ENST00000039989	Transcript					binding	ENSG00000052841	g.chr11:43411222A>C	25596			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=TTC17_HUMAN&rb=1&re=200&var=K90N	NA	getma.org/?cm=var&var=hg19,11,43411222,A,C&fts=all	K90N	--	--	1																																		TTC17_uc001mxh.2_Missense_Mutation_p.K90N|TTC17_uc010rfj.1_Missense_Mutation_p.K33N	1,1	1		probably_damaging(0.996)	p.K90N	NM_018259	NP_060729		tolerated(0.14)	1,1	TTC17_HUMAN	TTC17	HGNC	Q96AE7	TTC17_HUMAN					3	284	+			UPI000006E6C7	90					SNV	TTC17,missense_variant,p.Lys90Asn,ENST00000039989,NM_018259.5;TTC17,missense_variant,p.Lys90Asn,ENST00000299240,;RP11-484D2.5,upstream_gene_variant,,ENST00000530042,;RP11-484D2.4,upstream_gene_variant,,ENST00000394183,;TTC17,3_prime_UTR_variant,,ENST00000534347,;TTC17,non_coding_transcript_exon_variant,,ENST00000530469,;	uc001mxi.2	c.270A>C	284/4469	4	4			c.270A>C						11	SNP	c.(268-270)AAA>AAC	36	36			ovary(5)	5	Broad	tetratricopeptide repeat domain 17			43411222		0.393	ENSG00000052841	16434	g.chr11:43411222A>C			binding							105.997936	KEEP	11	23	-1	25	32	11	23	-1	107.224113	25	32	0.375	1	0	0	0	0	1	0	0	0	--	--		0	C			TTC17_uc001mxh.2_Missense_Mutation_p.K90N|TTC17_uc010rfj.1_Missense_Mutation_p.K33N	96	GBM-06-5413-TP	p.K90N	A	TTGCTCAAAAAATTCACATAG	NM_018259	NP_060729	43411222	Q96AE7	TTC17_HUMAN	0			3	284	+	C	C			Missense_Mutation	90						
TTC17	0	broad.mit.edu	GRCh37	11	43464880	43464880	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000039989.4:c.2257G>A	p.Val753Met	p.V753M	ENST00000039989	NM_018259.5	753	Gtg/Atg	0			1			A	V/M	uc001mxi.2	protein_coding	YES	CCDS31466.1			2257/3426									ovary(5)	5	c.(2257-2259)GTG>ATG			hmmpanther:PTHR16091	tetratricopeptide repeat domain 17				ENSP00000039989		17/24									COSM3397677,COSM3397678	17/24	.		ENST00000039989	Transcript					binding	ENSG00000052841	g.chr11:43464880G>A	25596			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=TTC17_HUMAN&rb=721&re=920&var=V753M	NA	getma.org/?cm=var&var=hg19,11,43464880,G,A&fts=all	V753M	--	--	1																																		TTC17_uc001mxh.2_Missense_Mutation_p.V810M|TTC17_uc010rfj.1_Missense_Mutation_p.V753M|TTC17_uc001mxj.2_Missense_Mutation_p.V580M	1,1	1		possibly_damaging(0.793)	p.V753M	NM_018259	NP_060729		tolerated(0.13)	1,1	TTC17_HUMAN	TTC17	HGNC	Q96AE7	TTC17_HUMAN					17	2271	+			UPI000006E6C7	753					SNV	TTC17,missense_variant,p.Val753Met,ENST00000039989,NM_018259.5;TTC17,missense_variant,p.Val810Met,ENST00000299240,;TTC17,non_coding_transcript_exon_variant,,ENST00000526774,;TTC17,non_coding_transcript_exon_variant,,ENST00000534417,;TTC17,upstream_gene_variant,,ENST00000525135,;	uc001mxi.2	c.2257G>A	2271/4469	1	1			c.2257G>A						11	SNP	c.(2257-2259)GTG>ATG	61	61			ovary(5)	5	Broad	tetratricopeptide repeat domain 17			43464880		0.308	ENSG00000052841	16434	g.chr11:43464880G>A			binding							75.992239	KEEP	18	12	-1	38	33	18	12	-1	78.780052	38	33	0.310345	1	0	0	0	0	1	0	0	0	--	--		0	A			TTC17_uc001mxh.2_Missense_Mutation_p.V810M|TTC17_uc010rfj.1_Missense_Mutation_p.V753M|TTC17_uc001mxj.2_Missense_Mutation_p.V580M	240	GBM-32-2632-TP	p.V753M	G	TTCAGGTACGGTGGTTGAGGA	NM_018259	NP_060729	43464880	Q96AE7	TTC17_HUMAN	0			17	2271	+	A	A			Missense_Mutation	753						
TTC18	0	broad.mit.edu	GRCh37	10	75051125	75051125	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs141991496		TCGA-06-5408-01	TCGA-06-5408-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310715.3:c.2308C>T	p.Arg770Trp	p.R770W	ENST00000310715	NM_145170.3	770	Cgg/Tgg	0	A:0		1			A	R/W	uc009xrc.2	protein_coding	YES	CCDS7324.3			2308/3366									ovary(2)|central_nervous_system(1)	3	c.(2308-2310)CGG>TGG			hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF361,SMART_domains:SM00028	tetratricopeptide repeat domain 18			A:0.0002	ENSP00000310829		20/28	1.65E-05					1.50E-05		6.06E-05	rs141991496,COSM3397238	20/28	.		ENST00000310715	Transcript					binding	ENSG00000156042	g.chr10:75051125G>A	30726			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=TTC18_HUMAN&rb=723&re=922&var=R770W	NA	getma.org/?cm=var&var=hg19,10,75051125,G,A&fts=all	R770W	--	--	1																																		TTC18_uc001jty.2_Missense_Mutation_p.R770W|TTC18_uc001jtv.3_Translation_Start_Site|TTC18_uc001jtw.3_Translation_Start_Site|TTC18_uc001jtx.2_Missense_Mutation_p.R151W	0,1	1		benign(0)	p.R770W	NM_145170	NP_660153		deleterious(0.02)	0,1		TTC18	HGNC	Q5T0N1	TTC18_HUMAN					20	2429	-	Prostate(51;0.0119)		UPI00001AEF7A	770					SNV	TTC18,missense_variant,p.Arg770Trp,ENST00000310715,NM_145170.3;TTC18,missense_variant,p.Arg770Trp,ENST00000401621,;TTC18,missense_variant,p.Arg239Trp,ENST00000355577,;TTC18,missense_variant,p.Arg770Trp,ENST00000394865,;TTC18,missense_variant,p.Arg177Trp,ENST00000433268,;TTC18,intron_variant,,ENST00000340329,;TTC18,non_coding_transcript_exon_variant,,ENST00000493787,;TTC18,non_coding_transcript_exon_variant,,ENST00000495161,;TTC18,non_coding_transcript_exon_variant,,ENST00000462684,;	uc009xrc.2	c.2308C>T	2429/3703	2	2			c.2308C>T						10	SNP	c.(2308-2310)CGG>TGG	43	43			ovary(2)|central_nervous_system(1)	3	Broad	tetratricopeptide repeat domain 18			75051125		0.423	ENSG00000156042	16435	g.chr10:75051125G>A			binding							128.52598	KEEP	18	25	-1	10	10	18	25	-1	130.677644	10	10	0.709091	1	0	0	0	0	1	0	0	0	--	--		0	A			TTC18_uc001jty.2_Missense_Mutation_p.R770W|TTC18_uc001jtv.3_Translation_Start_Site|TTC18_uc001jtw.3_Translation_Start_Site|TTC18_uc001jtx.2_Missense_Mutation_p.R151W	92	GBM-06-5408-TP	p.R770W	G	TGAAGCATCCGTGCCTGAAGC	NM_145170	NP_660153	75051125	Q5T0N1	TTC18_HUMAN	0			20	2429	-	A	A	Prostate(51;0.0119)		Missense_Mutation	770						
TTC21A	199223	broad.mit.edu	GRCh37	3	39152446	39152446	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000431162.2:c.373C>T	p.Arg125Cys	p.R125C	ENST00000431162		125	Cgc/Tgc	0			1			T	R/C	uc003cjc.2	protein_coding	YES	CCDS46800.1			373/3963									ovary(1)	1	c.(373-375)CGC>TGC			Gene3D:1.25.40.10,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR14699,hmmpanther:PTHR14699:SF2,SMART_domains:SM00028,Superfamily_domains:SSF48452	tetratricopeptide repeat domain 21A isoform 2				ENSP00000398211		29-Apr	9.93E-05			0.000697				0.000364	rs781132950,COSM2987356	29-Apr	common_variant		ENST00000431162	Transcript					binding	ENSG00000168026	g.chr3:39152446C>T	30761			MODERATE		1.35	low	getma.org/?cm=msa&ty=f&p=TT21A_HUMAN&rb=1&re=200&var=R125C	NA	getma.org/?cm=var&var=hg19,3,39152446,C,T&fts=all	R125C	--	--	1																																		TTC21A_uc003cja.2_Missense_Mutation_p.R125C|TTC21A_uc010hho.1_Missense_Mutation_p.R88C|TTC21A_uc003cjb.2_Intron|TTC21A_uc003cje.2_Missense_Mutation_p.R125C|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.R125C	0,1	1		benign(0.008)	p.R125C	NM_145755	NP_665698		deleterious(0.02)	0,1	TT21A_HUMAN	TTC21A	HGNC	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)			4	550	+			UPI00015D46B9	125			TPR 2.		SNV	TTC21A,missense_variant,p.Arg125Cys,ENST00000301819,NM_145755.2;TTC21A,missense_variant,p.Arg125Cys,ENST00000431162,;TTC21A,missense_variant,p.Arg125Cys,ENST00000440121,NM_001105513.2;GORASP1,upstream_gene_variant,,ENST00000319283,NM_031899.3;GORASP1,upstream_gene_variant,,ENST00000422110,NM_001278790.1;GORASP1,upstream_gene_variant,,ENST00000479927,NM_001278789.1;GORASP1,upstream_gene_variant,,ENST00000441081,;GORASP1,upstream_gene_variant,,ENST00000437458,;GORASP1,upstream_gene_variant,,ENST00000411813,;GORASP1,upstream_gene_variant,,ENST00000427459,;GORASP1,upstream_gene_variant,,ENST00000416741,;GORASP1,upstream_gene_variant,,ENST00000493938,;GORASP1,upstream_gene_variant,,ENST00000493751,;TTC21A,missense_variant,p.Arg125Cys,ENST00000430597,;TTC21A,3_prime_UTR_variant,,ENST00000425163,;TTC21A,non_coding_transcript_exon_variant,,ENST00000479954,;TTC21A,non_coding_transcript_exon_variant,,ENST00000459702,;TTC21A,intron_variant,,ENST00000493337,;TTC21A,intron_variant,,ENST00000431559,;GORASP1,upstream_gene_variant,,ENST00000441302,;GORASP1,upstream_gene_variant,,ENST00000452389,;GORASP1,upstream_gene_variant,,ENST00000453680,;GORASP1,upstream_gene_variant,,ENST00000431601,;GORASP1,upstream_gene_variant,,ENST00000470910,;TTC21A,downstream_gene_variant,,ENST00000490036,;GORASP1,upstream_gene_variant,,ENST00000493851,;GORASP1,upstream_gene_variant,,ENST00000473827,;GORASP1,upstream_gene_variant,,ENST00000413243,;GORASP1,upstream_gene_variant,,ENST00000466443,;GORASP1,upstream_gene_variant,,ENST00000488479,;GORASP1,upstream_gene_variant,,ENST00000469471,;GORASP1,upstream_gene_variant,,ENST00000492064,;	uc003cjc.2	c.373C>T	507/4209	2	2			c.373C>T						3	SNP	c.(373-375)CGC>TGC	43	43			ovary(1)	1	Broad	tetratricopeptide repeat domain 21A isoform 2			39152446		0.502	ENSG00000168026	16437	g.chr3:39152446C>T			binding							151.052476	KEEP	19	29	-1	5	10	19	29	-1	154.413774	5	10	0.754386	1	0	0	0	0	1	0	0	0	--	--		0	T			TTC21A_uc003cja.2_Missense_Mutation_p.R125C|TTC21A_uc010hho.1_Missense_Mutation_p.R88C|TTC21A_uc003cjb.2_Intron|TTC21A_uc003cje.2_Missense_Mutation_p.R125C|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.R125C	102	GBM-06-5858-TP	p.R125C	C	GCTCATAGGCCGCCATGACAA	NM_145755	NP_665698	39152446	Q8NDW8	TT21A_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	4	550	+	T	T			Missense_Mutation	125			TPR 2.			
TTC22	55001		GRCh37	1	55266546	55266546	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000371276.4:c.291G>A	p.Pro97=	p.P97=	ENST00000371276	NM_001114108.1	97	ccG/ccA	0																																																																																																																																																																																																																																												
TTC24	0	broad.mit.edu	GRCh37	1	156554756	156554756	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01	TCGA-32-4719-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368236.3:c.1339G>A	p.Val447Ile	p.V447I	ENST00000368236	NM_001105669.2	447	Gtc/Atc	0			1			A	V/I	uc009wsc.1	protein_coding	YES	CCDS53379.1			1339/1749									pancreas(1)	1	c.(499-501)GTC>ATC				tetratricopeptide repeat domain 24				ENSP00000357219		11-Jul									rs770901255,COSM3399812	11-Jul	.		ENST00000368236	Transcript					binding	ENSG00000187862	g.chr1:156554756G>A	32348			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=TTC24_HUMAN&rb=386&re=582&var=V447I	NA	getma.org/?cm=var&var=hg19,1,156554756,G,A&fts=all	V447I	--	--	1																																			0,1	1		benign(0.036)	p.V167I	NM_001105669	NP_001099139		deleterious(0.01)	0,1	TTC24_HUMAN	TTC24	HGNC	A2A3L6	TTC24_HUMAN					5	639	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		UPI0000418EC1	447					SNV	TTC24,missense_variant,p.Val447Ile,ENST00000368236,NM_001105669.2;TTC24,missense_variant,p.Val447Ile,ENST00000368237,;AL365181.1,downstream_gene_variant,,ENST00000581084,;TTC24,non_coding_transcript_exon_variant,,ENST00000478081,;TTC24,non_coding_transcript_exon_variant,,ENST00000413282,;TTC24,non_coding_transcript_exon_variant,,ENST00000495690,;TTC24,non_coding_transcript_exon_variant,,ENST00000462049,;	uc009wsc.1	c.499G>A	1375/2005	1	1			c.499G>A						1	SNP	c.(499-501)GTC>ATC	59	59			pancreas(1)	1	Broad	tetratricopeptide repeat domain 24			156554756		0.642	ENSG00000187862	16442	g.chr1:156554756G>A			binding							19.119708	KEEP	5	5	-1	5	7	5	5	-1	19.235812	5	7	0.411765	1	0	0	0	0	1	0	0	0	--	--		0	A				248	GBM-32-4719-TP	p.V167I	G	CACAGCAGGTGTCCAGCACAG	NM_001105669	NP_001099139	156554756	A2A3L6	TTC24_HUMAN	0			5	639	+	A	A	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		Missense_Mutation	447						
TTC26	79989	broad.mit.edu	GRCh37	7	138854079	138854079	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-2562-01	TCGA-06-2562-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000464848.1:c.1050A>G	p.Gly350=	p.G350=	ENST00000464848	NM_001287513.1	350	ggA/ggG	0			1			G	G	uc003vus.2	protein_coding	YES	CCDS5852.1			1050/1665									ovary(1)	1	c.(1048-1050)GGA>GGG			hmmpanther:PTHR14781,hmmpanther:PTHR14781:SF0,Gene3D:1.25.40.10	tetratricopeptide repeat domain 26 isoform 1				ENSP00000419279		18-Dec									COSM2152771	18-Dec	.		ENST00000464848	Transcript					binding	ENSG00000105948	g.chr7:138854079A>G	21882			LOW								--	--	1																																		TTC26_uc011kqn.1_Silent_p.G350G|TTC26_uc011kqo.1_Silent_p.G319G|TTC26_uc011kqp.1_Silent_p.G245G|TTC26_uc003vut.2_Silent_p.G210G|TTC26_uc011kqq.1_Silent_p.G219G	1	1			p.G350G	NM_024926	NP_079202			1	TTC26_HUMAN	TTC26	HGNC	A0AVF1	TTC26_HUMAN			B7Z1H0_HUMAN		12	1164	+			UPI000020FBAD	350					SNV	TTC26,synonymous_variant,p.=,ENST00000464848,NM_001287513.1;TTC26,synonymous_variant,p.=,ENST00000430935,NM_024926.2,NM_001144920.1;TTC26,synonymous_variant,p.=,ENST00000343187,NM_001144923.1;TTC26,synonymous_variant,p.=,ENST00000478836,;TTC26,synonymous_variant,p.=,ENST00000495038,;TTC26,downstream_gene_variant,,ENST00000481482,;TTC26,3_prime_UTR_variant,,ENST00000476296,;RP11-365F18.3,downstream_gene_variant,,ENST00000489759,;	uc003vus.2	c.1050A>G	1130/4299	3	3			c.1050A>G						7	SNP	c.(1048-1050)GGA>GGG	6	6			ovary(1)	1	Broad	tetratricopeptide repeat domain 26 isoform 1			138854079		0.368	ENSG00000105948	16444	g.chr7:138854079A>G			binding							146.804554	KEEP	36	26	-1	102	74	36	26	-1	156.866556	102	74	0.261538	1	0	0	0	0	0	0	1	0	--	--		0	G			TTC26_uc011kqn.1_Silent_p.G350G|TTC26_uc011kqo.1_Silent_p.G319G|TTC26_uc011kqp.1_Silent_p.G245G|TTC26_uc003vut.2_Silent_p.G210G|TTC26_uc011kqq.1_Silent_p.G219G	85	GBM-06-2562-TP	p.G350G	A	AGTTGGTGGGAGGATCAGCTA	NM_024926	NP_079202	138854079	A0AVF1	TTC26_HUMAN	0			12	1164	+	G	G			Silent	350						
TTC27	0	broad.mit.edu	GRCh37	2	33036261	33036261	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-26-1442-01	TCGA-26-1442-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317907.4:c.2169G>C	p.Gln723His	p.Q723H	ENST00000317907	NM_017735.4	723	caG/caC	0			1			C	Q/H	uc002rom.2	protein_coding	YES	CCDS33176.1			2169/2532									central_nervous_system(1)	1	c.(2167-2169)CAG>CAC			hmmpanther:PTHR16193,Gene3D:1.25.40.10,Superfamily_domains:SSF48452	tetratricopeptide repeat domain 27				ENSP00000313953		17/20									COSM3407836	17/20	.		ENST00000317907	Transcript					protein binding	ENSG00000018699	g.chr2:33036261G>C	25986			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=TTC27_HUMAN&rb=627&re=826&var=Q723H	NA	getma.org/?cm=var&var=hg19,2,33036261,G,C&fts=all	Q723H	--	--	1																																		TTC27_uc010ymx.1_Missense_Mutation_p.Q673H|TTC27_uc002ron.2_RNA	1	1		benign(0.004)	p.Q723H	NM_017735	NP_060205		tolerated(0.21)	1	TTC27_HUMAN	TTC27	HGNC	Q6P3X3	TTC27_HUMAN			C9JVS4_HUMAN,B4DRC7_HUMAN		17	2400	+			UPI0000208226	723					SNV	TTC27,missense_variant,p.Gln723His,ENST00000317907,NM_017735.4,NM_001193509.1;TTC27,3_prime_UTR_variant,,ENST00000428527,;	uc002rom.2	c.2169G>C	2400/2876	3	3			c.2169G>C						2	SNP	c.(2167-2169)CAG>CAC	6	6			central_nervous_system(1)	1	Broad	tetratricopeptide repeat domain 27			33036261		0.428	ENSG00000018699	16445	g.chr2:33036261G>C			protein binding							9.189065	KEEP	2	2	-1	13	10	2	2	-1	11.936385	13	10	0.16	1	0	0	0	0	1	0	0	0	--	--		0	C			TTC27_uc010ymx.1_Missense_Mutation_p.Q673H|TTC27_uc002ron.2_RNA	180	GBM-26-1442-TP	p.Q723H	G	GAAATGGGCAGAGTGAAAAGC	NM_017735	NP_060205	33036261	Q6P3X3	TTC27_HUMAN	0			17	2400	+	C	C			Missense_Mutation	723						
TTC29	0	broad.mit.edu	GRCh37	4	147824706	147824706	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325106.4:c.576C>T	p.Tyr192=	p.Y192=	ENST00000325106	NM_031956.2	192	taC/taT	0			1			A	Y	uc003ikw.3	protein_coding	YES	CCDS47141.1			576/1428										0	c.(574-576)TAC>TAT			PROSITE_profiles:PS50293,hmmpanther:PTHR10098,Gene3D:1.25.40.10,Pfam_domain:PF07719,SMART_domains:SM00028	tetratricopeptide repeat domain 29				ENSP00000316740		13-Jun	2.48E-05					4.66E-05			rs777478027,COSM3409079,COSM3409078	13-Jun	.		ENST00000325106	Transcript					binding	ENSG00000137473	g.chr4:147824706G>A	29936			LOW								--	--	1																																		TTC29_uc010ipc.2_RNA|TTC29_uc003ikx.3_Silent_p.Y218Y|TTC29_uc010ipd.1_Silent_p.Y192Y	0,1,1	1			p.Y192Y	NM_031956	NP_114162			0,1,1	TTC29_HUMAN	TTC29	HGNC	Q8NA56	TTC29_HUMAN			D6RJF6_HUMAN		6	803	-	all_hematologic(180;0.151)		UPI00001AE7CF	192			TPR 1.		SNV	TTC29,synonymous_variant,p.=,ENST00000513335,;TTC29,synonymous_variant,p.=,ENST00000325106,NM_031956.2;TTC29,synonymous_variant,p.=,ENST00000504425,;TTC29,synonymous_variant,p.=,ENST00000398886,;TTC29,synonymous_variant,p.=,ENST00000508306,;	uc003ikw.3	c.576C>T	803/1785	1	1			c.576C>T						4	SNP	c.(574-576)TAC>TAT	53	53				0	Broad	tetratricopeptide repeat domain 29			147824706		0.458	ENSG00000137473	16446	g.chr4:147824706G>A			binding							40.322386	KEEP	6	11	-1	18	25	6	11	-1	42.551954	18	25	0.283019	1	0	0	0	0	0	0	1	0	--	--		0	A			TTC29_uc010ipc.2_RNA|TTC29_uc003ikx.3_Silent_p.Y218Y|TTC29_uc010ipd.1_Silent_p.Y192Y	190	GBM-27-1831-TP	p.Y192Y	G	CATCTTCCTCGTAGAGAAGAC	NM_031956	NP_114162	147824706	Q8NA56	TTC29_HUMAN	0			6	803	-	A	A	all_hematologic(180;0.151)		Silent	192			TPR 1.			
TTC30A	0	broad.mit.edu	GRCh37	2	178482747	178482747	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6191-01	TCGA-76-6191-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355689.5:c.683G>A	p.Gly228Asp	p.G228D	ENST00000355689	NM_152275.3	228	gGc/gAc	0			1			T	G/D	uc002ulo.2	protein_coding	YES	CCDS2276.1			683/1998										0	c.(682-684)GGC>GAC			hmmpanther:PTHR20931,hmmpanther:PTHR20931:SF3	tetratricopeptide repeat domain 30A				ENSP00000347915		1-Jan										1-Jan	.		ENST00000355689	Transcript			cell projection organization	cilium	binding	ENSG00000197557	g.chr2:178482747C>T	25853			MODERATE		3.27	medium	getma.org/?cm=msa&ty=f&p=TT30A_HUMAN&rb=218&re=417&var=G228D	NA	getma.org/?cm=var&var=hg19,2,178482747,C,T&fts=all	G228D	--	--	1																																				1		probably_damaging(0.988)	p.G228D	NM_152275	NP_689488		deleterious(0)		TT30A_HUMAN	TTC30A	HGNC	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)				1	948	-			UPI0000209161	228					SNV	TTC30A,missense_variant,p.Gly228Asp,ENST00000355689,NM_152275.3;AC073834.3,intron_variant,,ENST00000357045,;	uc002ulo.2	c.683G>A	948/5975	2	2			c.683G>A						2	SNP	c.(682-684)GGC>GAC	47	47				0	Broad	tetratricopeptide repeat domain 30A			178482747		0.527	ENSG00000197557	16448	g.chr2:178482747C>T	cell projection organization	cilium	binding							-4.251127	KEEP	1	3	-1	34	27	1	3	-1	8.5146	34	27	0.0625	1	0	0	0	0	1	0	0	0	--	--		0	T				274	GBM-76-6191-TP	p.G228D	C	GGTGGTCATGCCCACACCTAG	NM_152275	NP_689488	178482747	Q86WT1	TT30A_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		1	948	-	T	T			Missense_Mutation	228						
TTC30A	92104		GRCh37	2	178481798	178481798	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000355689.5:c.1632C>T	p.Cys544=	p.C544=	ENST00000355689	NM_152275.3	544	tgC/tgT	0																																																																																																																																																																																																																																												
TTC31	0	broad.mit.edu	GRCh37	2	74718780	74718780	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-6701-01	TCGA-06-6701-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000233623.5:c.857A>T	p.Gln286Leu	p.Q286L	ENST00000233623	NM_022492.4	286	cAg/cTg	0			1			T	Q/L	uc002slt.2	protein_coding	YES	CCDS42701.1			857/1560										0	c.(856-858)CAG>CTG			hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF314,Low_complexity_(Seg):seg	tetratricopeptide repeat domain 31				ENSP00000233623		13-Aug									COSM3407987	13-Aug	.		ENST00000233623	Transcript					binding	ENSG00000115282	g.chr2:74718780A>T	25759			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TTC31_HUMAN&rb=201&re=302&var=Q286L	NA	getma.org/?cm=var&var=hg19,2,74718780,A,T&fts=all	Q286L	--	--	1																																		TTC31_uc002sls.2_Missense_Mutation_p.Q215L|TTC31_uc010yrv.1_Intron|TTC31_uc002slu.2_Missense_Mutation_p.Q142L	1	1		benign(0.005)	p.Q286L	NM_022492	NP_071937		deleterious(0.04)	1	TTC31_HUMAN	TTC31	HGNC	Q49AM3	TTC31_HUMAN			G5E9H3_HUMAN		8	880	+			UPI0000D611C0	286					SNV	TTC31,missense_variant,p.Gln286Leu,ENST00000410003,;TTC31,missense_variant,p.Gln286Leu,ENST00000233623,NM_022492.4;TTC31,missense_variant,p.Gln24Leu,ENST00000414247,;TTC31,intron_variant,,ENST00000442235,;TTC31,downstream_gene_variant,,ENST00000463189,;TTC31,3_prime_UTR_variant,,ENST00000424122,;TTC31,3_prime_UTR_variant,,ENST00000449459,;TTC31,non_coding_transcript_exon_variant,,ENST00000489152,;TTC31,non_coding_transcript_exon_variant,,ENST00000491252,;TTC31,non_coding_transcript_exon_variant,,ENST00000464241,;TTC31,non_coding_transcript_exon_variant,,ENST00000487623,;TTC31,downstream_gene_variant,,ENST00000459957,;	uc002slt.2	c.857A>T	864/3235	2	2			c.857A>T						2	SNP	c.(856-858)CAG>CTG	30	30				0	Broad	tetratricopeptide repeat domain 31			74718780		0.597	ENSG00000115282	16450	g.chr2:74718780A>T			binding							43.014471	KEEP	8	11	-1	20	18	8	11	-1	44.478629	20	18	0.327273	1	0	0	0	0	1	0	0	0	--	--		0	T			TTC31_uc002sls.2_Missense_Mutation_p.Q215L|TTC31_uc010yrv.1_Intron|TTC31_uc002slu.2_Missense_Mutation_p.Q142L	115	GBM-06-6701-TP	p.Q286L	A	GAGAGGCCCCAGCAGAGTCCA	NM_022492	NP_071937	74718780	Q49AM3	TTC31_HUMAN	0			8	880	+	T	T			Missense_Mutation	286						
TTC31	0	broad.mit.edu	GRCh37	2	74710499	74710499	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01	TCGA-41-3392-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000233623.5:c.91C>T	p.Leu31Phe	p.L31F	ENST00000233623	NM_022492.4	31	Ctt/Ttt	0			1			T	L/F	uc002slt.2	protein_coding	YES	CCDS42701.1			91/1560										0	c.(91-93)CTT>TTT				tetratricopeptide repeat domain 31				ENSP00000233623		13-Feb	1.65E-05		0.000173						rs753089585,COSM3407986	13-Feb	.		ENST00000233623	Transcript					binding	ENSG00000115282	g.chr2:74710499C>T	25759			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=TTC31_HUMAN&rb=1&re=200&var=L31F	NA	getma.org/?cm=var&var=hg19,2,74710499,C,T&fts=all	L31F	--	--	1																																OREG0014719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	TTC31_uc002sls.2_5'UTR|TTC31_uc010yrv.1_5'UTR|TTC31_uc002slu.2_5'UTR|CCDC142_uc002slo.2_5'Flank|CCDC142_uc002slq.2_5'Flank|CCDC142_uc002slr.2_5'Flank|CCDC142_uc002slp.2_5'Flank	0,1	1		probably_damaging(0.916)	p.L31F	NM_022492	NP_071937		tolerated_low_confidence(0.13)	0,1	TTC31_HUMAN	TTC31	HGNC	Q49AM3	TTC31_HUMAN			G5E9H3_HUMAN		2	114	+			UPI0000D611C0	31					SNV	TTC31,missense_variant,p.Leu31Phe,ENST00000410003,;TTC31,missense_variant,p.Leu31Phe,ENST00000233623,NM_022492.4;TTC31,5_prime_UTR_variant,,ENST00000442235,;CCDC142,upstream_gene_variant,,ENST00000393965,NM_032779.3;CCDC142,upstream_gene_variant,,ENST00000290418,;TTC31,non_coding_transcript_exon_variant,,ENST00000463189,;CCDC142,non_coding_transcript_exon_variant,,ENST00000474681,;CCDC142,upstream_gene_variant,,ENST00000471713,;TTC31,missense_variant,p.Leu31Phe,ENST00000424122,;TTC31,missense_variant,p.Leu31Phe,ENST00000449459,;TTC31,non_coding_transcript_exon_variant,,ENST00000489152,;TTC31,non_coding_transcript_exon_variant,,ENST00000491252,;TTC31,non_coding_transcript_exon_variant,,ENST00000464241,;TTC31,non_coding_transcript_exon_variant,,ENST00000459957,;TTC31,non_coding_transcript_exon_variant,,ENST00000463704,;CCDC142,upstream_gene_variant,,ENST00000454193,;CCDC142,upstream_gene_variant,,ENST00000497232,;CCDC142,upstream_gene_variant,,ENST00000472962,;	uc002slt.2	c.91C>T	98/3235	1	1			c.91C>T						2	SNP	c.(91-93)CTT>TTT	5	5				0	Broad	tetratricopeptide repeat domain 31			74710499		0.582	ENSG00000115282	16450	g.chr2:74710499C>T			binding							81.565011	KEEP	14	20	-1	62	52	14	20	-1	88.261599	62	52	0.254098	1	0	0	0	0	1	0	0	0	--	--		0	T	OREG0014719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	TTC31_uc002sls.2_5'UTR|TTC31_uc010yrv.1_5'UTR|TTC31_uc002slu.2_5'UTR|CCDC142_uc002slo.2_5'Flank|CCDC142_uc002slq.2_5'Flank|CCDC142_uc002slr.2_5'Flank|CCDC142_uc002slp.2_5'Flank	254	GBM-41-3392-TP	p.L31F	C	TGCACCCAAACTTTGCAAGGA	NM_022492	NP_071937	74710499	Q49AM3	TTC31_HUMAN	0			2	114	+	T	T			Missense_Mutation	31						
TTC37	9652	broad.mit.edu	GRCh37	5	94856458	94856458	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0648-01	TCGA-06-0648-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358746.2:c.2076C>T	p.Ala692=	p.A692=	ENST00000358746	NM_014639.3	692	gcC/gcT	0	A:0		1			A	A	uc003klb.2	protein_coding	YES	CCDS4072.1			2076/4695									ovary(3)|pancreas(1)	4	c.(2074-2076)GCC>GCT			hmmpanther:PTHR15704,Gene3D:1.25.40.10	tetratricopeptide repeat domain 37			A:0.0001	ENSP00000351596		20/43	0.000124	9.84E-05	8.79E-05			0.000166	0.00221		rs200525903,COSM3410485	20/43	.		ENST00000358746	Transcript	1				binding	ENSG00000198677	g.chr5:94856458G>A	23639			LOW								--	--	1																																			0,1	1			p.A692A	NM_014639	NP_055454			0,1	TTC37_HUMAN	TTC37	HGNC	Q6PGP7	TTC37_HUMAN			D6RDA0_HUMAN		20	2346	-			UPI00000709BD	692			TPR 12.		SNV	TTC37,synonymous_variant,p.=,ENST00000358746,NM_014639.3;TTC37,downstream_gene_variant,,ENST00000514952,;RNU6-308P,upstream_gene_variant,,ENST00000390957,;TTC37,non_coding_transcript_exon_variant,,ENST00000507805,;TTC37,upstream_gene_variant,,ENST00000506007,;TTC37,upstream_gene_variant,,ENST00000508181,;TTC37,downstream_gene_variant,,ENST00000513232,;TTC37,downstream_gene_variant,,ENST00000505578,;	uc003klb.2	c.2076C>T	2375/5706	1	1			c.2076C>T						5	SNP	c.(2074-2076)GCC>GCT	52	52			ovary(3)|pancreas(1)	4	Broad	tetratricopeptide repeat domain 37			94856458		0.284	ENSG00000198677	16455	g.chr5:94856458G>A			binding							-16.794293	KEEP	2	2	-1	57	72	2	2	-1	8.566522	57	72	0.036697	1	0	0	0	0	0	0	1	0	--	--		0	A				61	GBM-06-0648-TP	p.A692A	G	TGTAGTCTACGGCTTTTCCAT	NM_014639	NP_055454	94856458	Q6PGP7	TTC37_HUMAN	0			20	2346	-	A	A			Silent	692			TPR 12.			
TTC39A	0	broad.mit.edu	GRCh37	1	51768762	51768762	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0616-01	TCGA-12-0616-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000447632.2:c.865G>A	p.Val289Met	p.V289M	ENST00000447632		289	Gtg/Atg	0			1			T	V/M	uc001csl.2	protein_coding					865/1842									skin(1)	1	c.(865-867)GTG>ATG			Pfam_domain:PF10300,hmmpanther:PTHR31859,hmmpanther:PTHR31859:SF3	tetratricopeptide repeat domain 39A isoform 2				ENSP00000393952		18-Sep	8.28E-06								rs777724015,COSM3400865,COSM3400864,COSM3400866	18-Sep	.		ENST00000447632	Transcript					binding	ENSG00000085831	g.chr1:51768762C>T	18657			MODERATE		1.14	low	getma.org/?cm=msa&ty=f&p=TT39A_HUMAN&rb=171&re=518&var=V289M	NA	getma.org/?cm=var&var=hg19,1,51768762,C,T&fts=all	V289M	--	--	1																																		TTC39A_uc001csk.2_Missense_Mutation_p.V254M|TTC39A_uc010ond.1_Missense_Mutation_p.V226M|TTC39A_uc010one.1_Missense_Mutation_p.V253M|TTC39A_uc010onf.1_Missense_Mutation_p.V257M|TTC39A_uc001csn.2_Missense_Mutation_p.V288M|TTC39A_uc001cso.1_Missense_Mutation_p.V285M|TTC39A_uc009vyy.1_Missense_Mutation_p.V226M	0,1,1,1			possibly_damaging(0.891)	p.V289M	NM_001080494	NP_001073963		deleterious(0.02)	0,1,1,1	TT39A_HUMAN	TTC39A	HGNC	Q5SRH9	TT39A_HUMAN			U5GXS1_HUMAN,E9PQ33_HUMAN,E9PHX9_HUMAN		9	970	-			UPI000046FE6B	289					SNV	TTC39A,missense_variant,p.Val285Met,ENST00000262676,;TTC39A,missense_variant,p.Val289Met,ENST00000447632,;TTC39A,missense_variant,p.Val257Met,ENST00000413473,NM_001144832.1;TTC39A,missense_variant,p.Val226Met,ENST00000262675,;TTC39A,missense_variant,p.Val253Met,ENST00000451380,;TTC39A,missense_variant,p.Val254Met,ENST00000371750,NM_001080494.2;TTC39A,missense_variant,p.Val288Met,ENST00000371747,;TTC39A,missense_variant,p.Val253Met,ENST00000439482,;TTC39A,missense_variant,p.Val226Met,ENST00000411642,;TTC39A,missense_variant,p.Val226Met,ENST00000422925,;TTC39A,downstream_gene_variant,,ENST00000380849,;TTC39A,non_coding_transcript_exon_variant,,ENST00000431927,;TTC39A,non_coding_transcript_exon_variant,,ENST00000524442,;	uc001csl.2	c.865G>A	914/2790	1	1			c.865G>A						1	SNP	c.(865-867)GTG>ATG	7	7			skin(1)	1	Broad	tetratricopeptide repeat domain 39A isoform 2			51768762		0.627	ENSG00000085831	16457	g.chr1:51768762C>T			binding							24.097314	KEEP	4	5	-1	7	4	4	5	-1	24.110208	7	4	0.470588	1	0	0	0	0	1	0	0	0	--	--		0	T			TTC39A_uc001csk.2_Missense_Mutation_p.V254M|TTC39A_uc010ond.1_Missense_Mutation_p.V226M|TTC39A_uc010one.1_Missense_Mutation_p.V253M|TTC39A_uc010onf.1_Missense_Mutation_p.V257M|TTC39A_uc001csn.2_Missense_Mutation_p.V288M|TTC39A_uc001cso.1_Missense_Mutation_p.V285M|TTC39A_uc009vyy.1_Missense_Mutation_p.V226M	118	GBM-12-0616-TP	p.V289M	C	CTACCGAGCACGAAGGTGAGG	NM_001080494	NP_001073963	51768762	Q5SRH9	TT39A_HUMAN	0			9	970	-	T	T			Missense_Mutation	289						
TTC39B	158219		GRCh37	9	15214139	15214139	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	C			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000512701.2:c.480C>G		p.X160_splice	ENST00000512701		160	ccC/ccG	0																																																																																																																																																																																																																																												
TTC4	7268		GRCh37	1	55207175	55207175	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000371281.3:c.1153C>G	p.Gln385Glu	p.Q385E	ENST00000371281	NM_004623.4	385	Cag/Gag	0																																																																																																																																																																																																																																												
TTC5	0	broad.mit.edu	GRCh37	14	20767565	20767565	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01	TCGA-76-4928-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258821.3:c.439C>T	p.Arg147Cys	p.R147C	ENST00000258821	NM_138376.2	147	Cgt/Tgt	0			1			A	R/C	uc001vwt.2	protein_coding	YES	CCDS9546.1			439/1323									ovary(1)	1	c.(439-441)CGT>TGT			hmmpanther:PTHR26312:SF69,hmmpanther:PTHR26312,Gene3D:1.25.40.10	tetratricopeptide repeat domain 5				ENSP00000258821		10-Apr									COSM3401195	10-Apr	.		ENST00000258821	Transcript			DNA repair	cytoplasm|nucleus	binding	ENSG00000136319	g.chr14:20767565G>A	19274			MODERATE		2.74	medium	getma.org/?cm=msa&ty=f&p=TTC5_HUMAN&rb=134&re=223&var=R147C	getma.org/pdb.php?prot=TTC5_HUMAN&from=134&to=223&var=R147C	getma.org/?cm=var&var=hg19,14,20767565,G,A&fts=all	R147C	--	--	1																																		TTC5_uc001vwu.2_Missense_Mutation_p.R4C	1	1		probably_damaging(0.999)	p.R147C	NM_138376	NP_612385		deleterious(0)	1	TTC5_HUMAN	TTC5	HGNC	Q8N0Z6	TTC5_HUMAN	Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)			4	496	-	all_cancers(95;0.00092)		UPI000013D00B	147					SNV	TTC5,splice_acceptor_variant,,ENST00000423949,;TTC5,missense_variant,p.Arg147Cys,ENST00000258821,NM_138376.2;TTC5,downstream_gene_variant,,ENST00000553828,;TTC5,missense_variant,p.Ser124Leu,ENST00000383029,;TTC5,non_coding_transcript_exon_variant,,ENST00000554157,;TTC5,downstream_gene_variant,,ENST00000557379,;	uc001vwt.2	c.439C>T	496/4779	1	1			c.439C>T						14	SNP	c.(439-441)CGT>TGT	54	54			ovary(1)	1	Broad	tetratricopeptide repeat domain 5			20767565		0.493	ENSG00000136319	16461	g.chr14:20767565G>A	DNA repair	cytoplasm|nucleus	binding							41.07073	KEEP	13	12	-1	51	58	13	12	-1	53.014001	51	58	0.178862	1	0	0	0	0	1	0	0	0	--	--		0	A			TTC5_uc001vwu.2_Missense_Mutation_p.R4C	268	GBM-76-4928-TP	p.R147C	G	CGCAGCTGACGAAGCACCATT	NM_138376	NP_612385	20767565	Q8N0Z6	TTC5_HUMAN	0	Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)	4	496	-	A	A	all_cancers(95;0.00092)		Missense_Mutation	147						
TTC5	91875		GRCh37	14	20760171	20760171	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000258821.3:c.1174C>T	p.Arg392Trp	p.R392W	ENST00000258821	NM_138376.2	392	Cgg/Tgg	0																																																																																																																																																																																																																																												
TTC7A	57217		GRCh37	2	47206005	47206005	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000319190.5:c.723A>G	p.Glu241=	p.E241=	ENST00000319190	NM_020458.2	241	gaA/gaG	0																																																																																																																																																																																																																																												
TTC8	123016	broad.mit.edu	GRCh37	14	89336533	89336533	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0124-01	TCGA-06-0124-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380656.2:c.1040G>T	p.Arg347Leu	p.R347L	ENST00000380656	NM_144596.2	347	cGg/cTg	0			1			T	R/L	uc010ath.2	protein_coding	YES	CCDS32137.1			1040/1548										0	c.(1087-1089)CGG>CTG			Superfamily_domains:SSF48452,SMART_domains:SM00028,Pfam_domain:PF13429,Gene3D:1.25.40.10,hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF39,PROSITE_profiles:PS50293,PROSITE_profiles:PS50005	tetratricopeptide repeat domain 8 isoform B				ENSP00000370031		15-Nov									COSM2149306,COSM3401507	15-Nov	.	Bardet-Biedl_syndrome	ENST00000380656	Transcript	1		cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	ENSG00000165533	g.chr14:89336533G>T	20087			MODERATE		2.28	medium	getma.org/?cm=msa&ty=f&p=TTC8_HUMAN&rb=352&re=386&var=R373L	NA	getma.org/?cm=var&var=hg19,14,89336533,G,T&fts=all	R373L	--	--	1																																		TTC8_uc001xxl.2_Missense_Mutation_p.R108L|TTC8_uc010ati.2_Missense_Mutation_p.R149L|TTC8_uc001xxm.2_Missense_Mutation_p.R307L|TTC8_uc010atj.2_Missense_Mutation_p.R82L|TTC8_uc001xxi.2_Missense_Mutation_p.R347L|TTC8_uc001xxj.2_Missense_Mutation_p.R337L|TTC8_uc001xxk.2_Missense_Mutation_p.R307L	1,1	1		benign(0.058)	p.R363L	NM_198309	NP_938051		tolerated(0.11)	1,1	TTC8_HUMAN	TTC8	HGNC	Q8TAM2	TTC8_HUMAN			B3KSL8_HUMAN		11	1222	+			UPI0000447156	373			TPR 5.		SNV	TTC8,missense_variant,p.Arg363Leu,ENST00000338104,NM_001288781.1;TTC8,missense_variant,p.Arg337Leu,ENST00000345383,NM_198309.2;TTC8,missense_variant,p.Arg347Leu,ENST00000380656,NM_144596.2;TTC8,missense_variant,p.Arg108Leu,ENST00000536576,NM_001288783.1;TTC8,missense_variant,p.Arg307Leu,ENST00000346301,NM_198310.2;TTC8,missense_variant,p.Arg297Leu,ENST00000554686,;TTC8,missense_variant,p.Arg149Leu,ENST00000358622,;TTC8,missense_variant,p.Arg82Leu,ENST00000354441,;TTC8,missense_variant,p.Arg136Leu,ENST00000557580,;TTC8,3_prime_UTR_variant,,ENST00000555057,NM_001288782.1;	uc010ath.2	c.1088G>T	1086/2171	1	1			c.1088G>T						14	SNP	c.(1087-1089)CGG>CTG	7	7				0	Broad	tetratricopeptide repeat domain 8 isoform B			89336533	Bardet-Biedl_syndrome	0.358	ENSG00000165533	16464	g.chr14:89336533G>T	cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding							191.479166	KEEP	44	39	0.530120482	127	81	44	39	0.530120482	203.085855	127	81	0.27381	1	0	0	0	0	1	0	0	0	--	--		0	T			TTC8_uc001xxl.2_Missense_Mutation_p.R108L|TTC8_uc010ati.2_Missense_Mutation_p.R149L|TTC8_uc001xxm.2_Missense_Mutation_p.R307L|TTC8_uc010atj.2_Missense_Mutation_p.R82L|TTC8_uc001xxi.2_Missense_Mutation_p.R347L|TTC8_uc001xxj.2_Missense_Mutation_p.R337L|TTC8_uc001xxk.2_Missense_Mutation_p.R307L	11	GBM-06-0124-TP	p.R363L	G	ATAGCTCTCCGGTTTTACAGG	NM_198309	NP_938051	89336533	Q8TAM2	TTC8_HUMAN	0			11	1222	+	T	T			Missense_Mutation	373			TPR 5.			
TTF2	8458	broad.mit.edu	GRCh37	1	117603105	117603105	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2557-01	TCGA-06-2557-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369466.4:c.57C>T	p.Val19=	p.V19=	ENST00000369466	NM_003594.3	19	gtC/gtT	0			1			T	V	uc001egy.2	protein_coding	YES	CCDS892.1			57/3489									ovary(1)	1	c.(55-57)GTC>GTT			Pfam_domain:PF06839	transcription termination factor, RNA polymerase				ENSP00000358478		23-Feb									COSM2152566	23-Feb	.		ENST00000369466	Transcript			mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	ENSG00000116830	g.chr1:117603105C>T	12398			LOW								--	--	1																																		TTF2_uc001egx.1_Silent_p.V19V	1	1			p.V19V	NM_003594	NP_003585			1	TTF2_HUMAN	TTF2	HGNC	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)			2	77	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	UPI000013CCE7	19					SNV	TTF2,synonymous_variant,p.=,ENST00000369466,NM_003594.3;RP11-27K13.3,upstream_gene_variant,,ENST00000445523,;TTF2,non_coding_transcript_exon_variant,,ENST00000470935,;	uc001egy.2	c.57C>T	101/9462	1	1			c.57C>T						1	SNP	c.(55-57)GTC>GTT	14	14			ovary(1)	1	Broad	transcription termination factor, RNA polymerase			117603105		0.582	ENSG00000116830	16469	g.chr1:117603105C>T	mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding							135.62225	KEEP	28	22	-1	35	40	28	22	-1	136.709423	35	40	0.396552	1	0	0	0	0	0	0	1	0	--	--		0	T			TTF2_uc001egx.1_Silent_p.V19V	81	GBM-06-2557-TP	p.V19V	C	AGACCGGCGTCCGCGATGGCC	NM_003594	NP_003585	117603105	Q9UNY4	TTF2_HUMAN	0		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	2	77	+	T	T	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	Silent	19						
TTF2	0	broad.mit.edu	GRCh37	1	117618058	117618058	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2620-01	TCGA-19-2620-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369466.4:c.852G>A	p.Glu284=	p.E284=	ENST00000369466	NM_003594.3	284	gaG/gaA	0			1			A	E	uc001egy.2	protein_coding	YES	CCDS892.1			852/3489									ovary(1)	1	c.(850-852)GAG>GAA			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF573	transcription termination factor, RNA polymerase				ENSP00000358478		23-May									COSM3399582	23-May	.		ENST00000369466	Transcript			mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	ENSG00000116830	g.chr1:117618058G>A	12398			LOW								--	--	1																																		TTF2_uc001egx.1_Silent_p.E284E	1	1			p.E284E	NM_003594	NP_003585			1	TTF2_HUMAN	TTF2	HGNC	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)			5	872	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	UPI000013CCE7	284					SNV	TTF2,synonymous_variant,p.=,ENST00000369466,NM_003594.3;TTF2,non_coding_transcript_exon_variant,,ENST00000470935,;TTF2,non_coding_transcript_exon_variant,,ENST00000469638,;	uc001egy.2	c.852G>A	896/9462	1	1			c.852G>A						1	SNP	c.(850-852)GAG>GAA	59	59			ovary(1)	1	Broad	transcription termination factor, RNA polymerase			117618058		0.522	ENSG00000116830	16469	g.chr1:117618058G>A	mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding							108.674266	KEEP	17	26	-1	51	68	17	26	-1	116.34019	51	68	0.267516	1	0	0	0	0	0	0	1	0	--	--		0	A			TTF2_uc001egx.1_Silent_p.E284E	162	GBM-19-2620-TP	p.E284E	G	TCAACAAGGAGTACACGAACT	NM_003594	NP_003585	117618058	Q9UNY4	TTF2_HUMAN	0		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	5	872	+	A	A	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	Silent	284						
TTF2	0	broad.mit.edu	GRCh37	1	117638845	117638845	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01	TCGA-28-5208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369466.4:c.3110C>T	p.Ala1037Val	p.A1037V	ENST00000369466	NM_003594.3	1037	gCc/gTc	0			1			T	A/V	uc001egy.2	protein_coding	YES	CCDS892.1			3110/3489									ovary(1)	1	c.(3109-3111)GCC>GTC			Gene3D:3.40.50.300,Pfam_domain:PF00271,PROSITE_profiles:PS51194,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF573,SMART_domains:SM00490,Superfamily_domains:SSF52540	transcription termination factor, RNA polymerase				ENSP00000358478		20/23									COSM3399583	20/23	.		ENST00000369466	Transcript			mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	ENSG00000116830	g.chr1:117638845C>T	12398			MODERATE		-0.235	neutral	getma.org/?cm=msa&ty=f&p=TTF2_HUMAN&rb=1027&re=1106&var=A1037V	getma.org/pdb.php?prot=TTF2_HUMAN&from=1027&to=1106&var=A1037V	getma.org/?cm=var&var=hg19,1,117638845,C,T&fts=all	A1037V	--	--	1																																			1	1		benign(0.411)	p.A1037V	NM_003594	NP_003585		tolerated(0.06)	1	TTF2_HUMAN	TTF2	HGNC	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)			20	3130	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	UPI000013CCE7	1037			Helicase C-terminal.		SNV	TTF2,missense_variant,p.Ala1037Val,ENST00000369466,NM_003594.3;TTF2,missense_variant,p.Ala18Val,ENST00000427271,;MIR942,downstream_gene_variant,,ENST00000401111,;TTF2,non_coding_transcript_exon_variant,,ENST00000492682,;TTF2,non_coding_transcript_exon_variant,,ENST00000463696,;TTF2,upstream_gene_variant,,ENST00000480701,;	uc001egy.2	c.3110C>T	3154/9462	2	2			c.3110C>T						1	SNP	c.(3109-3111)GCC>GTC	43	43			ovary(1)	1	Broad	transcription termination factor, RNA polymerase			117638845		0.458	ENSG00000116830	16469	g.chr1:117638845C>T	mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding							-33.849052	KEEP	1	3	-1	92	86	1	3	-1	7.350449	92	86	0.02439	1	0	0	0	0	1	0	0	0	--	--		0	T				217	GBM-28-5208-TP	p.A1037V	C	CTGACTTATGCCACCATCGAT	NM_003594	NP_003585	117638845	Q9UNY4	TTF2_HUMAN	0		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	20	3130	+	T	T	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	Missense_Mutation	1037			Helicase C-terminal.			
TTK	7272	broad.mit.edu	GRCh37	6	80746263	80746263	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0747-01	TCGA-06-0747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369798.2:c.1996G>C	p.Gly666Arg	p.G666R	ENST00000369798	NM_003318.4	666	Ggg/Cgg	0			1			C	G/R	uc003pjc.2	protein_coding	YES	CCDS4993.1			1996/2574									ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11	c.(1996-1998)GGG>CGG			PROSITE_profiles:PS50011,hmmpanther:PTHR22974:SF21,hmmpanther:PTHR22974,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112	TTK protein kinase				ENSP00000358813		17/22									COSM3411305,COSM3411304	17/22	.		ENST00000369798	Transcript			mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000112742	g.chr6:80746263G>C	12401			MODERATE		3.95	high	getma.org/?cm=msa&ty=f&p=TTK_HUMAN&rb=525&re=791&var=G666R	getma.org/pdb.php?prot=TTK_HUMAN&from=525&to=791&var=G666R	getma.org/?cm=var&var=hg19,6,80746263,G,C&fts=all	G666R	--	--	1																																		TTK_uc003pjb.3_Missense_Mutation_p.G665R	1,1	1		probably_damaging(1)	p.G666R	NM_003318	NP_003309		deleterious(0)	1,1	TTK_HUMAN	TTK	HGNC	P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	D6RIC6_HUMAN,D6RF82_HUMAN,D6REX1_HUMAN		17	2070	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	UPI0000073C7B	666			Protein kinase.		SNV	TTK,missense_variant,p.Gly665Arg,ENST00000509894,;TTK,missense_variant,p.Gly665Arg,ENST00000230510,;TTK,missense_variant,p.Gly666Arg,ENST00000369798,NM_003318.4,NM_001166691.1;TTK,upstream_gene_variant,,ENST00000504590,;	uc003pjc.2	c.1996G>C	2107/3010	3	3			c.1996G>C						6	SNP	c.(1996-1998)GGG>CGG	1	1			ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11	Broad	TTK protein kinase			80746263		0.323	ENSG00000112742	16470	g.chr6:80746263G>C	mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			471			471	-1.920654	KEEP	5	2	-1	53	29	5	2	-1	13.445719	53	29	0.073171	1	0	0	0	0	1	0	0	0	--	--		0	C			TTK_uc003pjb.3_Missense_Mutation_p.G665R	68	GBM-06-0747-TP	p.G666R	G	AATTGATTTTGGGATTGCAAA	NM_003318	NP_003309	80746263	P33981	TTK_HUMAN	0		BRCA - Breast invasive adenocarcinoma(397;0.0321)	17	2070	+	C	C		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	Missense_Mutation	666			Protein kinase.			
TTLL10	0	broad.mit.edu	GRCh37	1	1120451	1120451	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-1439-01	TCGA-26-1439-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379289.1:c.1363C>T	p.Arg455Trp	p.R455W	ENST00000379289	NM_001130045.1	455	Cgg/Tgg	0			1			T	R/W	uc001acy.2	protein_coding		CCDS44036.1			1363/2022									large_intestine(1)	1	c.(1363-1365)CGG>TGG			PROSITE_profiles:PS51221,hmmpanther:PTHR12241:SF72,hmmpanther:PTHR12241,Pfam_domain:PF03133	tubulin tyrosine ligase-like family, member 10				ENSP00000368591		13/16	1.65E-05	9.81E-05				1.53E-05			rs771656051,COSM2119533,COSM2119532	13/16	.		ENST00000379289	Transcript			protein modification process		ATP binding|tubulin-tyrosine ligase activity	ENSG00000162571	g.chr1:1120451C>T	26693			MODERATE		1.09	low	getma.org/?cm=msa&ty=f&p=TTL10_HUMAN&rb=211&re=548&var=R455W	getma.org/pdb.php?prot=TTL10_HUMAN&from=211&to=548&var=R455W	getma.org/?cm=var&var=hg19,1,1120451,C,T&fts=all	R455W	--	--	1																																		TTLL10_uc010nyg.1_Missense_Mutation_p.R455W|TTLL10_uc001acz.1_Missense_Mutation_p.R382W	0,1,1			probably_damaging(0.981)	p.R455W	NM_001130045	NP_001123517		deleterious(0)	0,1,1	TTL10_HUMAN	TTLL10	HGNC	Q6ZVT0	TTL10_HUMAN		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)			13	1514	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	UPI0000205ADB	455			TTL.		SNV	TTLL10,missense_variant,p.Arg455Trp,ENST00000379290,;TTLL10,missense_variant,p.Arg455Trp,ENST00000379289,NM_001130045.1;TTLL10,missense_variant,p.Arg382Trp,ENST00000379288,NM_153254.2;TTLL10,missense_variant,p.Arg13Trp,ENST00000486379,;TTLL10,downstream_gene_variant,,ENST00000460998,;TTLL10,downstream_gene_variant,,ENST00000514695,;	uc001acy.2	c.1363C>T	1514/2259	2	2			c.1363C>T						1	SNP	c.(1363-1365)CGG>TGG	32	32			large_intestine(1)	1	Broad	tubulin tyrosine ligase-like family, member 10			1120451		0.612	ENSG00000162571	16473	g.chr1:1120451C>T	protein modification process		ATP binding|tubulin-tyrosine ligase activity							-2.988283	KEEP	4	2	-1	43	51	4	2	-1	13.956707	43	51	0.068182	1	0	0	0	0	1	0	0	0	--	--		0	T			TTLL10_uc010nyg.1_Missense_Mutation_p.R455W|TTLL10_uc001acz.1_Missense_Mutation_p.R382W	179	GBM-26-1439-TP	p.R455W	C	CTGGAAGGCCCGGGGCCTCGC	NM_001130045	NP_001123517	1120451	Q6ZVT0	TTL10_HUMAN	0		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	13	1514	+	T	T	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	Missense_Mutation	455			TTL.			
TTLL11	158135	broad.mit.edu	GRCh37	9	124751932	124751932	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5411-01	TCGA-06-5411-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321582.5:c.1081G>A	p.Ala361Thr	p.A361T	ENST00000321582	NM_001139442.1	361	Gca/Aca	0			1			T	A/T	uc004blt.1	protein_coding	YES	CCDS48012.1			1081/2403										0	c.(1081-1083)GCA>ACA			Pfam_domain:PF03133,PROSITE_profiles:PS51221,hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF95,Superfamily_domains:SSF56059	tubulin tyrosine ligase-like family, member 11				ENSP00000321346		9-Apr									COSM2153138,COSM2153137	9-Apr	.		ENST00000321582	Transcript			protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	ENSG00000175764	g.chr9:124751932C>T	18113			MODERATE		0.195	neutral	getma.org/?cm=msa&ty=f&p=TTL11_HUMAN&rb=263&re=515&var=A361T	getma.org/pdb.php?prot=TTL11_HUMAN&from=263&to=515&var=A361T	getma.org/?cm=var&var=hg19,9,124751932,C,T&fts=all	A361T	--	--	1																																		TTLL11_uc011lyl.1_Missense_Mutation_p.A361T|TTLL11_uc004blr.2_RNA|TTLL11_uc011lym.1_Missense_Mutation_p.A38T|TTLL11_uc004blu.1_3'UTR	1,1	1		benign(0.005)	p.A361T	NM_194252	NP_919228		tolerated(0.62)	1,1		TTLL11	HGNC	Q8NHH1	TTL11_HUMAN			F8W6M1_HUMAN		4	1269	-			UPI0000E0BF7B	361			TTL.		SNV	TTLL11,missense_variant,p.Ala361Thr,ENST00000321582,NM_001139442.1;TTLL11,missense_variant,p.Ala361Thr,ENST00000373776,NM_194252.2;TTLL11,non_coding_transcript_exon_variant,,ENST00000474723,;TTLL11,non_coding_transcript_exon_variant,,ENST00000487468,;TTLL11,intron_variant,,ENST00000373778,;	uc004blt.1	c.1081G>A	1269/3250	2	2			c.1081G>A						9	SNP	c.(1081-1083)GCA>ACA	43	43				0	Broad	tubulin tyrosine ligase-like family, member 11			124751932		0.517	ENSG00000175764	16474	g.chr9:124751932C>T	protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity							135.61567	KEEP	29	31	-1	48	89	29	31	-1	143.431926	48	89	0.282609	1	0	0	0	0	1	0	0	0	--	--		0	T			TTLL11_uc011lyl.1_Missense_Mutation_p.A361T|TTLL11_uc004blr.2_RNA|TTLL11_uc011lym.1_Missense_Mutation_p.A38T|TTLL11_uc004blu.1_3'UTR	94	GBM-06-5411-TP	p.A361T	C	AGGGTCCCTGCCAGGCGGATG	NM_194252	NP_919228	124751932	Q8NHH1	TTL11_HUMAN	0			4	1269	-	T	T			Missense_Mutation	361			TTL.			
TTLL11	158135	broad.mit.edu	GRCh37	9	124794081	124794081	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-5411-01	TCGA-06-5411-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321582.5:c.884A>T	p.Gln295Leu	p.Q295L	ENST00000321582	NM_001139442.1	295	cAg/cTg	0			1			A	Q/L	uc004blt.1	protein_coding	YES	CCDS48012.1			884/2403										0	c.(883-885)CAG>CTG			Pfam_domain:PF03133,PROSITE_profiles:PS51221,hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF95	tubulin tyrosine ligase-like family, member 11				ENSP00000321346		9-Mar									COSM2153154,COSM2153153	9-Mar	.		ENST00000321582	Transcript			protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	ENSG00000175764	g.chr9:124794081T>A	18113			MODERATE		1.34	low	getma.org/?cm=msa&ty=f&p=TTL11_HUMAN&rb=263&re=515&var=Q295L	getma.org/pdb.php?prot=TTL11_HUMAN&from=263&to=515&var=Q295L	getma.org/?cm=var&var=hg19,9,124794081,T,A&fts=all	Q295L	--	--	1																																		TTLL11_uc011lyl.1_Missense_Mutation_p.Q295L|TTLL11_uc004blr.2_Intron|TTLL11_uc011lym.1_Intron|TTLL11_uc004blu.1_Intron	1,1	1		possibly_damaging(0.84)	p.Q295L	NM_194252	NP_919228		tolerated(0.16)	1,1		TTLL11	HGNC	Q8NHH1	TTL11_HUMAN			F8W6M1_HUMAN		3	1072	-			UPI0000E0BF7B	295			TTL.		SNV	TTLL11,missense_variant,p.Gln295Leu,ENST00000321582,NM_001139442.1;TTLL11,missense_variant,p.Gln295Leu,ENST00000373776,NM_194252.2;TTLL11,non_coding_transcript_exon_variant,,ENST00000373778,;TTLL11,intron_variant,,ENST00000474723,;TTLL11,intron_variant,,ENST00000487468,;	uc004blt.1	c.884A>T	1072/3250	2	2			c.884A>T						9	SNP	c.(883-885)CAG>CTG	32	32				0	Broad	tubulin tyrosine ligase-like family, member 11			124794081		0.507	ENSG00000175764	16474	g.chr9:124794081T>A	protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity							87.585177	KEEP	10	25	-1	35	42	10	25	-1	90.802848	35	42	0.31	1	0	0	0	0	1	0	0	0	--	--		0	A			TTLL11_uc011lyl.1_Missense_Mutation_p.Q295L|TTLL11_uc004blr.2_Intron|TTLL11_uc011lym.1_Intron|TTLL11_uc004blu.1_Intron	94	GBM-06-5411-TP	p.Q295L	T	AAAGAGATTCTGCATGGTTCT	NM_194252	NP_919228	124794081	Q8NHH1	TTL11_HUMAN	0			3	1072	-	A	A			Missense_Mutation	295			TTL.			
TTLL12	23170	broad.mit.edu	GRCh37	22	43570225	43570225	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-01	TCGA-06-0190-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216129.6:c.1219C>T	p.Arg407Trp	p.R407W	ENST00000216129	NM_015140.3	407	Cgg/Tgg	0			1			A	R/W	uc003bdq.2	protein_coding	YES	CCDS14047.1			1219/1935									central_nervous_system(1)	1	c.(1219-1221)CGG>TGG			PROSITE_profiles:PS51221,hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF13,Pfam_domain:PF03133	tubulin tyrosine ligase-like family, member 12				ENSP00000216129		14-Aug	8.24E-06					1.55E-05			rs763918205,COSM3405701	14-Aug	.		ENST00000216129	Transcript			protein modification process		tubulin-tyrosine ligase activity	ENSG00000100304	g.chr22:43570225G>A	28974			MODERATE		3.165	medium	getma.org/?cm=msa&ty=f&p=TTL12_HUMAN&rb=346&re=642&var=R407W	getma.org/pdb.php?prot=TTL12_HUMAN&from=346&to=642&var=R407W	getma.org/?cm=var&var=hg19,22,43570225,G,A&fts=all	R407W	--	--	1																																		TTLL12_uc003bdr.1_Missense_Mutation_p.R407W	0,1	1		probably_damaging(0.999)	p.R407W	NM_015140	NP_055955		deleterious(0)	0,1	TTL12_HUMAN	TTLL12	HGNC	Q14166	TTL12_HUMAN					8	1251	-		Ovarian(80;0.221)|Glioma(61;0.222)	UPI000013938D	407			TTL.		SNV	TTLL12,missense_variant,p.Arg407Trp,ENST00000216129,NM_015140.3;TTLL12,upstream_gene_variant,,ENST00000494035,;TTLL12,downstream_gene_variant,,ENST00000484118,;TTLL12,upstream_gene_variant,,ENST00000484711,;	uc003bdq.2	c.1219C>T	1283/3385	2	2			c.1219C>T						22	SNP	c.(1219-1221)CGG>TGG	44	44			central_nervous_system(1)	1	Broad	tubulin tyrosine ligase-like family, member 12			43570225		0.667	ENSG00000100304	16475	g.chr22:43570225G>A	protein modification process		tubulin-tyrosine ligase activity							207.241903	KEEP	39	49	-1	120	121	39	49	-1	219.168263	120	121	0.284211	1	0	0	0	0	1	0	0	0	--	--		0	A			TTLL12_uc003bdr.1_Missense_Mutation_p.R407W	43	GBM-06-0190-TP	p.R407W	G	CACCTTTCCCGCTGCTGGAAG	NM_015140	NP_055955	43570225	Q14166	TTL12_HUMAN	0			8	1251	-	A	A		Ovarian(80;0.221)|Glioma(61;0.222)	Missense_Mutation	407			TTL.			
TTLL2	0	broad.mit.edu	GRCh37	6	167754816	167754816	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-12-0692-01	TCGA-12-0692-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000239587.5:c.1428G>C	p.Val476=	p.V476=	ENST00000239587	NM_031949.4	476	gtG/gtC	0			1			C	V	uc003qvs.1	protein_coding	YES	CCDS5301.1			1428/1779									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(1426-1428)GTG>GTC			hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF90	tubulin tyrosine ligase-like family, member 2				ENSP00000239587		3-Mar	8.24E-06	9.73E-05							rs768472898,COSM2154320	3-Mar	.		ENST00000239587	Transcript			protein modification process		ATP binding|tubulin-tyrosine ligase activity	ENSG00000120440	g.chr6:167754816G>C	21211			LOW								--	--	1																																		TTLL2_uc011egr.1_RNA	0,1	1			p.V476V	NM_031949	NP_114155			0,1	TTLL2_HUMAN	TTLL2	HGNC	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)			3	1516	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	UPI00001A3A8B	476					SNV	TTLL2,synonymous_variant,p.=,ENST00000239587,NM_031949.4;TTLL2,synonymous_variant,p.=,ENST00000515138,;TTLL2,downstream_gene_variant,,ENST00000512917,;	uc003qvs.1	c.1428G>C	1516/2075	3	3			c.1428G>C						6	SNP	c.(1426-1428)GTG>GTC	55	55			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	tubulin tyrosine ligase-like family, member 2			167754816		0.512	ENSG00000120440	16477	g.chr6:167754816G>C	protein modification process		ATP binding|tubulin-tyrosine ligase activity							115.134566	KEEP	20	21	-1	52	46	20	21	-1	119.635312	52	46	0.298387	1	0	0	0	0	0	0	1	0	--	--		0	C			TTLL2_uc011egr.1_RNA	122	GBM-12-0692-TP	p.V476V	G	AGAAAGCTGTGAGTGTGCGTC	NM_031949	NP_114155	167754816	Q9BWV7	TTLL2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	1516	+	C	C		Breast(66;7.8e-06)|Ovarian(120;0.024)	Silent	476						
TTLL2	0	broad.mit.edu	GRCh37	6	167754158	167754158	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs34053826		TCGA-32-4211-01	TCGA-32-4211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000239587.5:c.770G>A	p.Arg257His	p.R257H	ENST00000239587	NM_031949.4	257	cGc/cAc	0	A:0.0002		1			A	R/H	uc003qvs.1	protein_coding	YES	CCDS5301.1			770/1779									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(769-771)CGC>CAC			PROSITE_profiles:PS51221,hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF90,Pfam_domain:PF03133,Superfamily_domains:SSF56059	tubulin tyrosine ligase-like family, member 2			A:0	ENSP00000239587		3-Mar	4.94E-05	0.000193				5.99E-05			rs34053826,COSM3410788	3-Mar	.		ENST00000239587	Transcript			protein modification process		ATP binding|tubulin-tyrosine ligase activity	ENSG00000120440	g.chr6:167754158G>A	21211			MODERATE		4.39	high	getma.org/?cm=msa&ty=f&p=TTLL2_HUMAN&rb=131&re=423&var=R257H	getma.org/pdb.php?prot=TTLL2_HUMAN&from=131&to=423&var=R257H	getma.org/?cm=var&var=hg19,6,167754158,G,A&fts=all	R257H	--	--	1																																		TTLL2_uc011egr.1_RNA	0,1	1		benign(0.244)	p.R257H	NM_031949	NP_114155		deleterious(0.05)	0,1	TTLL2_HUMAN	TTLL2	HGNC	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)			3	858	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	UPI00001A3A8B	257			TTL.		SNV	TTLL2,missense_variant,p.Arg257His,ENST00000239587,NM_031949.4;TTLL2,missense_variant,p.Arg257His,ENST00000515138,;TTLL2,downstream_gene_variant,,ENST00000512917,;	uc003qvs.1	c.770G>A	858/2075	2	2			c.770G>A						6	SNP	c.(769-771)CGC>CAC	38	38			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	tubulin tyrosine ligase-like family, member 2			167754158		0.358	ENSG00000120440	16477	g.chr6:167754158G>A	protein modification process		ATP binding|tubulin-tyrosine ligase activity							-8.764537	KEEP	10	12	-1	154	158	10	12	-1	49.231621	154	158	0.071661	1	0	0	0	0	1	0	0	0	--	--		0	A			TTLL2_uc011egr.1_RNA	246	GBM-32-4211-TP	p.R257H	G	TGTGATCTCCGCATCTATGTT	NM_031949	NP_114155	167754158	Q9BWV7	TTLL2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	858	+	A	A		Breast(66;7.8e-06)|Ovarian(120;0.024)	Missense_Mutation	257			TTL.			
TTLL7	79739	broad.mit.edu	GRCh37	1	84408356	84408356	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-06-5417-01	TCGA-06-5417-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260505.8:c.513T>A	p.Ser171=	p.S171=	ENST00000260505	NM_024686.4	171	tcT/tcA	0			1			T	S	uc001djc.2	protein_coding	YES	CCDS690.2			513/2664									ovary(1)	1	c.(511-513)TCT>TCA			PROSITE_profiles:PS51221,hmmpanther:PTHR12241:SF11,hmmpanther:PTHR12241,Pfam_domain:PF03133,Superfamily_domains:SSF56059	tubulin tyrosine ligase-like family, member 7				ENSP00000260505		21-Jul									COSM2153306	21-Jul	.		ENST00000260505	Transcript			cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	ENSG00000137941	g.chr1:84408356A>T	26242			LOW								--	--	1																																		TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_Intron|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_RNA	1	1			p.S171S	NM_024686	NP_078962			1	TTLL7_HUMAN	TTLL7	HGNC	Q6ZT98	TTLL7_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)			7	909	-			UPI000020391D	171			TTL.		SNV	TTLL7,synonymous_variant,p.=,ENST00000260505,NM_024686.4;TTLL7,non_coding_transcript_exon_variant,,ENST00000477524,;TTLL7,non_coding_transcript_exon_variant,,ENST00000472688,;TTLL7,intron_variant,,ENST00000488014,;TTLL7,intron_variant,,ENST00000482783,;TTLL7,synonymous_variant,p.=,ENST00000480174,;TTLL7,synonymous_variant,p.=,ENST00000485638,;TTLL7,intron_variant,,ENST00000474957,;	uc001djc.2	c.513T>A	891/7976	2	2			c.513T>A						1	SNP	c.(511-513)TCT>TCA	30	30			ovary(1)	1	Broad	tubulin tyrosine ligase-like family, member 7			84408356		0.269	ENSG00000137941	16482	g.chr1:84408356A>T	cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity							85.25806	KEEP	10	21	-1	32	14	10	21	-1	85.778845	32	14	0.408451	1	0	0	0	0	0	0	1	0	--	--		0	T			TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_Intron|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_RNA	99	GBM-06-5417-TP	p.S171S	A	TTCTTATCAAAGAAATCCTAT	NM_024686	NP_078962	84408356	Q6ZT98	TTLL7_HUMAN	0		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	7	909	-	T	T			Silent	171			TTL.			
TTN	7273	broad.mit.edu	GRCh37	2	179476875	179476875	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0122-01	TCGA-06-0122-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589042.1:c.50263C>G	p.Pro16755Ala	p.P16755A	ENST00000589042	NM_001267550.1	16755	Ccc/Gcc	0			1			C	P/A	uc010zfg.1	protein_coding					45340/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(42559-42561)CCC>GCC			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265	titin isoform N2-A				ENSP00000465570		217/313									COSM3407265,COSM3407264,COSM3407261,COSM3407263,COSM3407262	217/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179476875G>C	12403			MODERATE		2.78	medium	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=15112&re=15197&var=P15114A	getma.org/pdb.php?prot=TITIN_HUMAN&from=15112&to=15197&var=P15114A	getma.org/?cm=var&var=hg19,2,179476875,G,C&fts=all	P15114A	--	--	1																																		uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P7882A|TTN_uc010zfi.1_Missense_Mutation_p.P7815A|TTN_uc010zfj.1_Missense_Mutation_p.P7690A	1,1,1,1,1				p.P14187A	NM_133378	NP_596869			1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		216	42783	-			UPI00025287CD	15114					SNV	TTN,missense_variant,p.Pro16755Ala,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Pro15114Ala,ENST00000591111,;TTN,missense_variant,p.Pro14187Ala,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Pro7882Ala,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Pro7815Ala,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Pro7690Ala,ENST00000460472,NM_003319.4;RP11-171I2.4,upstream_gene_variant,,ENST00000605334,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000589830,;	uc010zfg.1	c.42559C>G	45565/104301	4	4			c.42559C>G						2	SNP	c.(42559-42561)CCC>GCC	45	45			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179476875		0.418	ENSG00000155657	16485	g.chr2:179476875G>C			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	33.943659	KEEP	8	4	-1	12	6	8	4	-1	34.342137	12	6	0.37037	1	0	0	0	0	1	0	0	0	--	--		0	C			uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P7882A|TTN_uc010zfi.1_Missense_Mutation_p.P7815A|TTN_uc010zfj.1_Missense_Mutation_p.P7690A	10	GBM-06-0122-TP	p.P14187A	G	AGGGCGTAGGGTGGTCCAGGA	NM_133378	NP_596869	179476875	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		216	42783	-	C	C			Missense_Mutation	15114						
TTN	7273	broad.mit.edu	GRCh37	2	179597777	179597777	+	synonymous_variant	Silent	SNP	G	G	A	rs72648936		TCGA-06-0122-01	TCGA-06-0122-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589042.1:c.16126C>T	p.Leu5376=	p.L5376=	ENST00000589042	NM_001267550.1	5376	Ctg/Ttg	0	A:0		1			A	L	uc010zfg.1	protein_coding					15175/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(12394-12396)CTG>TTG			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	titin isoform N2-A			A:0.0001	ENSP00000465570		53/313	2.48E-05					4.54E-05			rs72648936,COSM3407335,COSM3407336	53/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179597777G>A	12403			LOW								--	--	1																																		TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.L793L	0,1,1				p.L4132L	NM_133378	NP_596869			0,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		52	12618	-			UPI00025287CD	5059					SNV	TTN,synonymous_variant,p.=,ENST00000589042,NM_001267550.1;TTN,synonymous_variant,p.=,ENST00000591111,;TTN,synonymous_variant,p.=,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,intron_variant,,ENST00000342175,NM_133437.3;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000582847,;TTN-AS1,intron_variant,,ENST00000585451,;	uc010zfg.1	c.12394C>T	15400/104301	2	2			c.12394C>T						2	SNP	c.(12394-12396)CTG>TTG	30	30			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179597777		0.468	ENSG00000155657	16485	g.chr2:179597777G>A			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity		p.L4132V(SNGM-Tumor)	8722		p.L4132V(SNGM-Tumor)	8722	35.556574	KEEP	5	9	-1	19	11	5	9	-1	36.778589	19	11	0.317073	1	0	0	0	0	0	0	1	0	--	--		0	A			TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.L793L	10	GBM-06-0122-TP	p.L4132L	G	TTGCAGTCCAGTCTGCAGGTA	NM_133378	NP_596869	179597777	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		52	12618	-	A	A			Silent	5059						
TTN	7273	broad.mit.edu	GRCh37	2	179599243	179599243	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01	TCGA-06-0122-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589042.1:c.15308C>T	p.Pro5103Leu	p.P5103L	ENST00000589042	NM_001267550.1	5103	cCa/cTa	0			1			A	P/L	uc010zfg.1	protein_coding					14357/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(11575-11577)CCA>CTA			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	titin isoform N2-A				ENSP00000465570		50/313									COSM3407339,COSM3407340	50/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179599243G>A	12403			MODERATE		2.64	medium	getma.org/?cm=msa&ty=f&p=D3DPG0_HUMAN&rb=4758&re=4845&var=P4786L	getma.org/pdb.php?prot=D3DPG0_HUMAN&from=4758&to=4845&var=P4786L	getma.org/?cm=var&var=hg19,2,179599243,G,A&fts=all	P4786L	--	--	1																																		TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P520L	1,1				p.P3859L	NM_133378	NP_596869			1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		49	11800	-			UPI00025287CD	4786					SNV	TTN,missense_variant,p.Pro5103Leu,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Pro4786Leu,ENST00000591111,;TTN,missense_variant,p.Pro3859Leu,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,intron_variant,,ENST00000342175,NM_133437.3;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000582847,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,upstream_gene_variant,,ENST00000590773,;	uc010zfg.1	c.11576C>T	14582/104301	1	1			c.11576C>T						2	SNP	c.(11575-11577)CCA>CTA	55	55			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179599243		0.393	ENSG00000155657	16485	g.chr2:179599243G>A			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	110.120232	KEEP	28	14	-1	57	39	28	14	-1	114.480819	57	39	0.308271	1	0	0	0	0	1	0	0	0	--	--		0	A			TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P520L	10	GBM-06-0122-TP	p.P3859L	G	AATTTCAAATGGTCCAGTGCC	NM_133378	NP_596869	179599243	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		49	11800	-	A	A			Missense_Mutation	4786						
TTN	7273	broad.mit.edu	GRCh37	2	179528601	179528601	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0128-01	TCGA-06-0128-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589042.1:c.36393C>T	p.Arg12131=	p.R12131=	ENST00000589042	NM_001267550.1	12131	cgC/cgT	0			1			A		uc010zfk.1	protein_coding					-/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(829-831)CGC>CGT				SubName: Full=Titin; Flags: Fragment;				ENSP00000465570			5.03E-05	0.000114				4.74E-05		0.000121	rs555029471,COSM1647240		.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179528601G>A	12403			MODIFIER	153/312							--	--	1																																		TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron	0,1				p.R277R					0,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		15	1379	-			UPI00025287CD	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					SNV	TTN,synonymous_variant,p.=,ENST00000589042,NM_001267550.1;TTN,synonymous_variant,p.=,ENST00000425332,;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,intron_variant,,ENST00000342175,NM_133437.3;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000414766,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;	uc010zfk.1	c.831C>T	-/104301	1	1			c.831C>T						2	SNP	c.(829-831)CGC>CGT	62	62			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	SubName: Full=Titin; Flags: Fragment;			179528601		0.423	ENSG00000155657	16485	g.chr2:179528601G>A			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	-93.5639	KEEP	6	3	-1	239	242	6	3	-1	13.021009	239	242	0.019465	1	0	0	0	0	0	0	1	0	--	--		0	A			TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron	14	GBM-06-0128-TP	p.R277R	G	CTTTCTCTTCGCGGATAACCT			179528601	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		15	1379	-	A	A			Silent	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						
TTN	7273	broad.mit.edu	GRCh37	2	179575886	179575886	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0128-01	TCGA-06-0128-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589042.1:c.28077T>G	p.Asn9359Lys	p.N9359K	ENST00000589042	NM_001267550.1	9359	aaT/aaG	0			1			C	N/K	uc010zfg.1	protein_coding					27126/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(24343-24345)AAT>AAG			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	titin isoform N2-A				ENSP00000465570		95/313									COSM3407326,COSM3407327	95/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179575886A>C	12403			MODERATE		-0.4	neutral	getma.org/?cm=msa&ty=f&p=D3DPG0_HUMAN&rb=8984&re=9073&var=N9042K	getma.org/pdb.php?prot=D3DPG0_HUMAN&from=8984&to=9073&var=N9042K	getma.org/?cm=var&var=hg19,2,179575886,A,C&fts=all	N9042K	--	--	1																																		TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.N4776K	1,1				p.N8115K	NM_133378	NP_596869			1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		94	24569	-			UPI00025287CD	9042					SNV	TTN,missense_variant,p.Asn9359Lys,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Asn9042Lys,ENST00000591111,;TTN,missense_variant,p.Asn8115Lys,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,intron_variant,,ENST00000342175,NM_133437.3;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;	uc010zfg.1	c.24345T>G	27351/104301	4	4			c.24345T>G						2	SNP	c.(24343-24345)AAT>AAG	36	36			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179575886		0.448	ENSG00000155657	16485	g.chr2:179575886A>C			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	21.401274	KEEP	11	13	-1	168	123	11	13	-1	68.264558	168	123	0.087912	1	0	0	0	0	1	0	0	0	--	--		0	C			TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.N4776K	14	GBM-06-0128-TP	p.N8115K	A	TTTTAAAAATATTGAGTGTGG	NM_133378	NP_596869	179575886	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		94	24569	-	C	C			Missense_Mutation	9042						
TTN	7273	broad.mit.edu	GRCh37	2	179458768	179458768	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0130-01	TCGA-06-0130-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589042.1:c.58352G>A	p.Arg19451His	p.R19451H	ENST00000589042	NM_001267550.1	19451	cGt/cAt	0			1			T	R/H	uc010zfg.1	protein_coding					53429/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(50647-50649)CGT>CAT			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	titin isoform N2-A				ENSP00000465570		247/313	8.27E-06	0.000102							rs760068789,COSM3407250,COSM3407249,COSM3407246,COSM3407248,COSM3407247	247/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179458768C>T	12403			MODERATE		2.465	medium	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=17750&re=17835&var=R17810H	getma.org/pdb.php?prot=TITIN_HUMAN&from=17750&to=17835&var=R17810H	getma.org/?cm=var&var=hg19,2,179458768,C,T&fts=all	R17810H	--	--	1																																		uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R10578H|TTN_uc010zfi.1_Missense_Mutation_p.R10511H|TTN_uc010zfj.1_Missense_Mutation_p.R10386H	0,1,1,1,1,1				p.R16883H	NM_133378	NP_596869			0,1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		246	50872	-			UPI00025287CD	17810					SNV	TTN,missense_variant,p.Arg19451His,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Arg17810His,ENST00000591111,;TTN,missense_variant,p.Arg16883His,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Arg10578His,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Arg10511His,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Arg10386His,ENST00000460472,NM_003319.4;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,downstream_gene_variant,,ENST00000590743,;TTN-AS1,upstream_gene_variant,,ENST00000589830,;	uc010zfg.1	c.50648G>A	53654/104301	1	1			c.50648G>A						2	SNP	c.(50647-50649)CGT>CAT	1	1			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179458768		0.418	ENSG00000155657	16485	g.chr2:179458768C>T			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	140.483525	KEEP	26	32	-1	73	90	26	32	-1	151.139411	73	90	0.259804	1	0	0	0	0	1	0	0	0	--	--		0	T			uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R10578H|TTN_uc010zfi.1_Missense_Mutation_p.R10511H|TTN_uc010zfj.1_Missense_Mutation_p.R10386H	16	GBM-06-0130-TP	p.R16883H	C	GGAATCTGAACGTTTGGCCTT	NM_133378	NP_596869	179458768	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		246	50872	-	T	T			Missense_Mutation	17810						
TTN	7273	broad.mit.edu	GRCh37	2	179497473	179497473	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589042.1:c.43260C>T	p.Phe14420=	p.F14420=	ENST00000589042	NM_001267550.1	14420	ttC/ttT	0	A:0.0005	A:0.0015	1	A:0		A	F	uc010zfg.1	protein_coding					38337/103053						benign			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(35554-35556)TTC>TTT			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	titin isoform N2-A		A:0.003	A:0	ENSP00000465570	A:0	185/313	9.93E-05	0.000615		0.000352		4.50E-05			rs372382546	185/313	common_variant		ENST00000591111	Transcript	1	A:0.0010			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179497473G>A	12403			LOW								--	--	1																																		TTN_uc010zfh.1_Silent_p.F5547F|TTN_uc010zfi.1_Silent_p.F5480F|TTN_uc010zfj.1_Silent_p.F5355F	1				p.F11852F	NM_133378	NP_596869	A:0			TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		184	35780	-			UPI00025287CD	12779					SNV	TTN,synonymous_variant,p.=,ENST00000589042,NM_001267550.1;TTN,synonymous_variant,p.=,ENST00000591111,;TTN,synonymous_variant,p.=,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,synonymous_variant,p.=,ENST00000342175,NM_133437.3;TTN,synonymous_variant,p.=,ENST00000359218,NM_133432.3;TTN,synonymous_variant,p.=,ENST00000460472,NM_003319.4;TTN,downstream_gene_variant,,ENST00000414766,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,upstream_gene_variant,,ENST00000431752,;TTN-AS1,downstream_gene_variant,,ENST00000589907,;TTN-AS1,upstream_gene_variant,,ENST00000418062,;	uc010zfg.1	c.35556C>T	38562/104301	2	2			c.35556C>T						2	SNP	c.(35554-35556)TTC>TTT	17	17			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179497473		0.428	ENSG00000155657	16485	g.chr2:179497473G>A			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	297.531784	KEEP	56	44	-1	79	67	56	44	-1	299.235547	79	67	0.409283	1	0	0	0	0	0	0	1	0	--	--		0	A			TTN_uc010zfh.1_Silent_p.F5547F|TTN_uc010zfi.1_Silent_p.F5480F|TTN_uc010zfj.1_Silent_p.F5355F	18	GBM-06-0137-TP	p.F11852F	G	CATCTTTCTCGAAGACTTTAA	NM_133378	NP_596869	179497473	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		184	35780	-	A	A			Silent	12779						
TTN	7273	broad.mit.edu	GRCh37	2	179469622	179469622	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589042.1:c.54194G>A	p.Arg18065His	p.R18065H	ENST00000589042	NM_001267550.1	18065	cGc/cAc	0	T:0.0003		1			T	R/H	uc010zfg.1	protein_coding					49271/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(46489-46491)CGC>CAC			Gene3D:2.60.40.10,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,Superfamily_domains:SSF48726,Superfamily_domains:SSF49265	titin isoform N2-A			T:0	ENSP00000465570		231/313	9.11E-05	0.000102		0.000238		0.000121			rs375895183	231/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179469622C>T	12403			MODERATE		2.455	medium	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=16392&re=16455&var=R16424H	NA	getma.org/?cm=var&var=hg19,2,179469622,C,T&fts=all	R16424H	--	--	1																																		uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R9192H|TTN_uc010zfi.1_Missense_Mutation_p.R9125H|TTN_uc010zfj.1_Missense_Mutation_p.R9000H					p.R15497H	NM_133378	NP_596869				TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		230	46714	-			UPI00025287CD	16424					SNV	TTN,missense_variant,p.Arg18065His,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Arg16424His,ENST00000591111,;TTN,missense_variant,p.Arg15497His,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Arg9192His,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Arg9125His,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Arg9000His,ENST00000460472,NM_003319.4;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,downstream_gene_variant,,ENST00000586452,;	uc010zfg.1	c.46490G>A	49496/104301	2	2			c.46490G>A						2	SNP	c.(46489-46491)CGC>CAC	28	28			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179469622		0.418	ENSG00000155657	16485	g.chr2:179469622C>T			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	138.283304	KEEP	25	24	-1	29	25	25	24	-1	138.303462	29	25	0.484848	1	0	0	0	0	1	0	0	0	--	--		0	T			uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R9192H|TTN_uc010zfi.1_Missense_Mutation_p.R9125H|TTN_uc010zfj.1_Missense_Mutation_p.R9000H	23	GBM-06-0145-TP	p.R15497H	C	TGGGGATGGGCGGTCTGGAAA	NM_133378	NP_596869	179469622	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		230	46714	-	T	T			Missense_Mutation	16424						
TTN	7273	broad.mit.edu	GRCh37	2	179437058	179437058	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0155-01	TCGA-06-0155-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589042.1:c.73801A>G	p.Ile24601Val	p.I24601V	ENST00000589042	NM_001267550.1	24601	Att/Gtt	0			1			C	I/V	uc010zfg.1	protein_coding					68878/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(66097-66099)ATT>GTT			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265	titin isoform N2-A				ENSP00000465570		276/313									COSM3407164,COSM3407163,COSM3407160,COSM3407162,COSM3407161	276/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179437058T>C	12403			MODERATE		0.195	neutral	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=22880&re=22964&var=I22960V	getma.org/pdb.php?prot=TITIN_HUMAN&from=22880&to=22964&var=I22960V	getma.org/?cm=var&var=hg19,2,179437058,T,C&fts=all	I22960V	--	--	1																																		uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I15728V|TTN_uc010zfi.1_Missense_Mutation_p.I15661V|TTN_uc010zfj.1_Missense_Mutation_p.I15536V	1,1,1,1,1				p.I22033V	NM_133378	NP_596869			1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		275	66321	-			UPI00025287CD	22960					SNV	TTN,missense_variant,p.Ile24601Val,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Ile22960Val,ENST00000591111,;TTN,missense_variant,p.Ile22033Val,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Ile15728Val,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Ile15661Val,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Ile15536Val,ENST00000460472,NM_003319.4;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000438095,;RP11-171I2.5,upstream_gene_variant,,ENST00000604215,;	uc010zfg.1	c.66097A>G	69103/104301	4	4			c.66097A>G						2	SNP	c.(66097-66099)ATT>GTT	35	35			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179437058		0.448	ENSG00000155657	16485	g.chr2:179437058T>C			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	115.531598	KEEP	20	21	-1	38	26	20	21	-1	116.442525	38	26	0.395833	1	0	0	0	0	1	0	0	0	--	--		0	C			uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I15728V|TTN_uc010zfi.1_Missense_Mutation_p.I15661V|TTN_uc010zfj.1_Missense_Mutation_p.I15536V	27	GBM-06-0155-TP	p.I22033V	T	GGCAGCCCAATGCCATATTCA	NM_133378	NP_596869	179437058	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	66321	-	C	C			Missense_Mutation	22960						
TTN	7273	broad.mit.edu	GRCh37	2	179542633	179542633	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0157-01	TCGA-06-0157-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589042.1:c.34006C>T	p.Arg11336Cys	p.R11336C	ENST00000589042	NM_001267550.1	11336	Cgt/Tgt	0			1			A	R/C	uc010zfg.1	protein_coding					33055/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(30274-30276)CGT>TGT			hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,Low_complexity_(Seg):seg	titin isoform N2-A				ENSP00000465570		144/313	1.66E-05					3.03E-05			rs763380355,COSM1591349,COSM1012678	144/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179542633G>A	12403			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=A2TKE6_HUMAN&rb=125&re=234&var=R133C	NA	getma.org/?cm=var&var=hg19,2,179542633,G,A&fts=all	R133C	--	--	1																																		TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R6753C|TTN_uc010fre.1_Intron|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA	0,1,1				p.R10092C	NM_133378	NP_596869			0,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		143	30498	-			UPI00025287CD	11019					SNV	TTN,missense_variant,p.Arg11336Cys,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Arg11019Cys,ENST00000591111,;TTN,missense_variant,p.Arg10092Cys,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,intron_variant,,ENST00000342175,NM_133437.3;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000414766,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;	uc010zfg.1	c.30274C>T	33280/104301	2	2			c.30274C>T						2	SNP	c.(30274-30276)CGT>TGT	21	21			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179542633		0.363	ENSG00000155657	16485	g.chr2:179542633G>A			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	13.857395	KEEP	14	3	-1	53	59	14	3	-1	31.214843	53	59	0.116667	1	0	0	0	0	1	0	0	0	--	--		0	A			TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R6753C|TTN_uc010fre.1_Intron|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA	28	GBM-06-0157-TP	p.R10092C	G	ACTGGTTCACGTTTCTTTGGC	NM_133378	NP_596869	179542633	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		143	30498	-	A	A			Missense_Mutation	11019						
TTN	7273	broad.mit.edu	GRCh37	2	179542567	179542567	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0171-01	TCGA-06-0171-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589042.1:c.34072del	p.Val11358PhefsTer110	p.V11358Ffs*110	ENST00000589042	NM_001267550.1	11358	Gtt/tt	0			1			-	V/X	uc010zfg.1	protein_coding					33121/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(30340-30342)GTTfs			hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,Low_complexity_(Seg):seg	titin isoform N2-A				ENSP00000465570		144/313										144/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179542567delC	12403			HIGH								--	--	1																																		TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Frame_Shift_Del_p.V6775fs|TTN_uc010fre.1_Intron|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA					p.V10114fs	NM_133378	NP_596869				TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		143	30564	-			UPI00025287CD	11041					deletion	TTN,frameshift_variant,p.Val11358PhefsTer110,ENST00000589042,NM_001267550.1;TTN,frameshift_variant,p.Val11041PhefsTer81,ENST00000591111,;TTN,frameshift_variant,p.Val10114PhefsTer81,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,intron_variant,,ENST00000342175,NM_133437.3;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000414766,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;	uc010zfg.1	c.30340delG	33346/104301	5	5			c.30340delG						2	DEL	c.(30340-30342)GTTfs	29	29			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179542567		0.413	ENSG00000155657	16485	g.chr2:179542567delC			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722														0.3	1	1	0	1	0	0	0	0	0	--	--		0	-			TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Frame_Shift_Del_p.V6775fs|TTN_uc010fre.1_Intron|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA	35	GBM-06-0171-TP	p.V10114fs	C	TCTTCAGGAACAATTTCTTCT	NM_133378	NP_596869	179542567	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		143	30564	-	-	-			Frame_Shift_Del	11041						
TTN	7273	broad.mit.edu	GRCh37	2	179498764	179498764	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0188-01	TCGA-06-0188-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589042.1:c.42462A>G	p.Lys14154=	p.K14154=	ENST00000589042	NM_001267550.1	14154	aaA/aaG	0			1			C	K	uc010zfg.1	protein_coding					37539/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(34756-34758)AAA>AAG			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00409,Superfamily_domains:SSF48726	titin isoform N2-A				ENSP00000465570		181/313									COSM3407303,COSM3407302,COSM3407299,COSM3407301,COSM3407300	181/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179498764T>C	12403			LOW								--	--	1																																		TTN_uc010zfh.1_Silent_p.K5281K|TTN_uc010zfi.1_Silent_p.K5214K|TTN_uc010zfj.1_Silent_p.K5089K	1,1,1,1,1				p.K11586K	NM_133378	NP_596869			1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		180	34982	-			UPI00025287CD	12513					SNV	TTN,synonymous_variant,p.=,ENST00000589042,NM_001267550.1;TTN,synonymous_variant,p.=,ENST00000591111,;TTN,synonymous_variant,p.=,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,synonymous_variant,p.=,ENST00000342175,NM_133437.3;TTN,synonymous_variant,p.=,ENST00000359218,NM_133432.3;TTN,synonymous_variant,p.=,ENST00000460472,NM_003319.4;TTN,downstream_gene_variant,,ENST00000414766,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,upstream_gene_variant,,ENST00000431752,;TTN-AS1,downstream_gene_variant,,ENST00000589907,;TTN-AS1,upstream_gene_variant,,ENST00000418062,;	uc010zfg.1	c.34758A>G	37764/104301	3	3			c.34758A>G						2	SNP	c.(34756-34758)AAA>AAG	51	51			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179498764		0.358	ENSG00000155657	16485	g.chr2:179498764T>C			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	331.997445	KEEP	54	38	-1	47	67	54	38	-1	332.478558	47	67	0.447761	1	0	0	0	0	0	0	1	0	--	--		0	C			TTN_uc010zfh.1_Silent_p.K5281K|TTN_uc010zfi.1_Silent_p.K5214K|TTN_uc010zfj.1_Silent_p.K5089K	41	GBM-06-0188-TP	p.K11586K	T	TTTCACCTTCTTTTACTGTTT	NM_133378	NP_596869	179498764	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		180	34982	-	C	C			Silent	12513						
TTN	7273	broad.mit.edu	GRCh37	2	179589211	179589211	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01	TCGA-06-0195-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589042.1:c.20891C>T	p.Thr6964Met	p.T6964M	ENST00000589042	NM_001267550.1	6964	aCg/aTg	0			1			A	T/M	uc010zfg.1	protein_coding					19940/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(17158-17160)ACG>ATG			Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	titin isoform N2-A				ENSP00000465570		70/313	4.96E-05							0.00037	rs765257439,COSM1645239,COSM1645240	70/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179589211G>A	12403			MODERATE		1.925	medium	getma.org/?cm=msa&ty=f&p=D3DPG0_HUMAN&rb=6631&re=6720&var=T6647M	getma.org/pdb.php?prot=D3DPG0_HUMAN&from=6631&to=6720&var=T6647M	getma.org/?cm=var&var=hg19,2,179589211,G,A&fts=all	T6647M	--	--	1																																		TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T2381M	0,1,1				p.T5720M	NM_133378	NP_596869			0,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		69	17383	-			UPI00025287CD	6647					SNV	TTN,missense_variant,p.Thr6964Met,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Thr6647Met,ENST00000591111,;TTN,missense_variant,p.Thr5720Met,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,intron_variant,,ENST00000342175,NM_133437.3;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000460472,NM_003319.4;RP11-171I2.1,non_coding_transcript_exon_variant,,ENST00000590024,;TTN-AS1,intron_variant,,ENST00000585451,;	uc010zfg.1	c.17159C>T	20165/104301	2	2			c.17159C>T						2	SNP	c.(17158-17160)ACG>ATG	46	46			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179589211		0.478	ENSG00000155657	16485	g.chr2:179589211G>A			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	73.564327	KEEP	19	11	-1	17	23	19	11	-1	74.071407	17	23	0.403226	1	0	0	0	0	1	0	0	0	--	--		0	A			TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T2381M	45	GBM-06-0195-TP	p.T5720M	G	CAGAGTGCACGTTTCTCCTAC	NM_133378	NP_596869	179589211	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		69	17383	-	A	A			Missense_Mutation	6647						
TTN	7273	broad.mit.edu	GRCh37	2	179637967	179637967	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0195-01	TCGA-06-0195-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589042.1:c.7724G>T	p.Ser2575Ile	p.S2575I	ENST00000589042	NM_001267550.1	2575	aGt/aTt	0			1			A	S/I	uc010zfg.1	protein_coding					7724/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(7723-7725)AGT>ATT			Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00409,Superfamily_domains:SSF48726	titin isoform N2-A				ENSP00000465570		33/313									COSM3407353,COSM3407352,COSM3407349,COSM3407351,COSM3407350,COSM3407354	33/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179637967C>A	12403			MODERATE		2.675	medium	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=2533&re=2617&var=S2575I	getma.org/pdb.php?prot=TITIN_HUMAN&from=2533&to=2617&var=S2575I	getma.org/?cm=var&var=hg19,2,179637967,C,A&fts=all	S2575I	--	--	1																																		TTN_uc010zfh.1_Missense_Mutation_p.S2529I|TTN_uc010zfi.1_Missense_Mutation_p.S2529I|TTN_uc010zfj.1_Missense_Mutation_p.S2529I|TTN_uc002unb.2_Missense_Mutation_p.S2575I	1,1,1,1,1,1				p.S2575I	NM_133378	NP_596869			1,1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		33	7948	-			UPI00025287CD	2575					SNV	TTN,missense_variant,p.Ser2575Ile,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Ser2575Ile,ENST00000591111,;TTN,missense_variant,p.Ser2575Ile,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Ser2529Ile,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Ser2529Ile,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Ser2529Ile,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Ser2575Ile,ENST00000360870,NM_133379.4;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000584485,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000610005,;RP11-88L24.4,upstream_gene_variant,,ENST00000582038,;	uc010zfg.1	c.7724G>T	7949/104301	2	2			c.7724G>T						2	SNP	c.(7723-7725)AGT>ATT	25	25			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179637967		0.353	ENSG00000155657	16485	g.chr2:179637967C>A			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	53.895599	KEEP	12	10	0.454545455	20	29	12	10	0.454545455	56.560003	20	29	0.287879	1	0	0	0	0	1	0	0	0	--	--		0	A			TTN_uc010zfh.1_Missense_Mutation_p.S2529I|TTN_uc010zfi.1_Missense_Mutation_p.S2529I|TTN_uc010zfj.1_Missense_Mutation_p.S2529I|TTN_uc002unb.2_Missense_Mutation_p.S2575I	45	GBM-06-0195-TP	p.S2575I	C	ATATTTAGAACTGGGCTTGAT	NM_133378	NP_596869	179637967	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		33	7948	-	A	A			Missense_Mutation	2575						
TTN	7273	broad.mit.edu	GRCh37	2	179431071	179431071	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589042.1:c.79788C>T	p.Ser26596=	p.S26596=	ENST00000589042	NM_001267550.1	26596	tcC/tcT	0			1			A	S	uc010zfg.1	protein_coding					74865/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(72082-72084)TCC>TCT			PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6	titin isoform N2-A				ENSP00000465570		276/313	3.31E-05		0.000173	0.000116		1.50E-05			rs777989882,COSM1402110,COSM1402109,COSM1402106,COSM1402108,COSM1402107	276/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179431071G>A	12403			LOW								--	--	1																																		uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.S17723S|TTN_uc010zfi.1_Silent_p.S17656S|TTN_uc010zfj.1_Silent_p.S17531S	0,1,1,1,1,1				p.S24028S	NM_133378	NP_596869			0,1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		275	72308	-			UPI00025287CD	24955					SNV	TTN,synonymous_variant,p.=,ENST00000589042,NM_001267550.1;TTN,synonymous_variant,p.=,ENST00000591111,;TTN,synonymous_variant,p.=,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,synonymous_variant,p.=,ENST00000342175,NM_133437.3;TTN,synonymous_variant,p.=,ENST00000359218,NM_133432.3;TTN,synonymous_variant,p.=,ENST00000460472,NM_003319.4;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000438095,;	uc010zfg.1	c.72084C>T	75090/104301	1	1			c.72084C>T						2	SNP	c.(72082-72084)TCC>TCT	64	64			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179431071		0.453	ENSG00000155657	16485	g.chr2:179431071G>A			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	153.313048	KEEP	29	37	-1	131	136	29	37	-1	177.216372	131	136	0.205387	1	0	0	0	0	0	0	1	0	--	--		0	A			uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.S17723S|TTN_uc010zfi.1_Silent_p.S17656S|TTN_uc010zfj.1_Silent_p.S17531S	46	GBM-06-0209-TP	p.S24028S	G	TTCTTAATTCGGAGTCAAGGT	NM_133378	NP_596869	179431071	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	72308	-	A	A			Silent	24955						
TTN	7273	broad.mit.edu	GRCh37	2	179556814	179556814	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0648-01	TCGA-06-0648-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589042.1:c.31691C>A	p.Pro10564His	p.P10564H	ENST00000589042	NM_001267550.1	10564	cCc/cAc	0			1			T	P/H	uc010zfg.1	protein_coding					30740/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(27958-27960)CCC>CAC			hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,Low_complexity_(Seg):seg	titin isoform N2-A				ENSP00000465570		119/313									COSM3407314,COSM3407315	119/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179556814G>T	12403			MODERATE		2.85	medium	getma.org/?cm=msa&ty=f&p=D3DPG0_HUMAN&rb=10212&re=10266&var=P10247H	NA	getma.org/?cm=var&var=hg19,2,179556814,G,T&fts=all	P10247H	--	--	1																																		TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P5981H|TTN_uc010fre.1_Missense_Mutation_p.P431H	1,1				p.P9320H	NM_133378	NP_596869			1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		118	28183	-			UPI00025287CD	10247					SNV	TTN,missense_variant,p.Pro10564His,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Pro10247His,ENST00000591111,;TTN,missense_variant,p.Pro9320His,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Pro442His,ENST00000414766,;TTN,intron_variant,,ENST00000342175,NM_133437.3;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;	uc010zfg.1	c.27959C>A	30965/104301	2	2			c.27959C>A						2	SNP	c.(27958-27960)CCC>CAC	44	44			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179556814		0.433	ENSG00000155657	16485	g.chr2:179556814G>T			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	100.885461	KEEP	13	26	0.333333333	25	29	13	26	0.333333333	101.507692	25	29	0.405063	1	0	0	0	0	1	0	0	0	--	--		0	T			TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P5981H|TTN_uc010fre.1_Missense_Mutation_p.P431H	61	GBM-06-0648-TP	p.P9320H	G	GGGTTTCTTGGGAACCTCAGG	NM_133378	NP_596869	179556814	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		118	28183	-	T	T			Missense_Mutation	10247						
TTN	7273	broad.mit.edu	GRCh37	2	179569962	179569962	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0648-01	TCGA-06-0648-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589042.1:c.29543G>A	p.Arg9848Gln	p.R9848Q	ENST00000589042	NM_001267550.1	9848	cGa/cAa	0			1			T	R/Q	uc010zfg.1	protein_coding					28592/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(25810-25812)CGA>CAA			hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6	titin isoform N2-A				ENSP00000465570		101/313	3.31E-05		8.67E-05	0.000232		1.50E-05			rs773444238,COSM3407318,COSM3407319	101/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179569962C>T	12403			MODERATE		2.565	medium	getma.org/?cm=msa&ty=f&p=D3DPG0_HUMAN&rb=9472&re=9582&var=R9531Q	getma.org/pdb.php?prot=D3DPG0_HUMAN&from=9472&to=9582&var=R9531Q	getma.org/?cm=var&var=hg19,2,179569962,C,T&fts=all	R9531Q	--	--	1																																		TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R5265Q	0,1,1				p.R8604Q	NM_133378	NP_596869			0,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		100	26035	-			UPI00025287CD	9531					SNV	TTN,missense_variant,p.Arg9848Gln,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Arg9531Gln,ENST00000591111,;TTN,missense_variant,p.Arg8604Gln,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,intron_variant,,ENST00000342175,NM_133437.3;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,upstream_gene_variant,,ENST00000414766,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;	uc010zfg.1	c.25811G>A	28817/104301	2	2			c.25811G>A						2	SNP	c.(25810-25812)CGA>CAA	43	43			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179569962		0.383	ENSG00000155657	16485	g.chr2:179569962C>T			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	198.129615	KEEP	36	32	-1	56	43	36	32	-1	198.97772	56	43	0.418919	1	0	0	0	0	1	0	0	0	--	--		0	T			TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R5265Q	61	GBM-06-0648-TP	p.R8604Q	C	AAGAAGACCTCGGAAGTCAGT	NM_133378	NP_596869	179569962	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		100	26035	-	T	T			Missense_Mutation	9531						
TTN	7273	broad.mit.edu	GRCh37	2	179569359	179569359	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0686-01	TCGA-06-0686-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589042.1:c.29840T>G	p.Phe9947Cys	p.F9947C	ENST00000589042	NM_001267550.1	9947	tTt/tGt	0			1			C	F/C	uc010zfg.1	protein_coding					28889/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(26107-26109)TTT>TGT			Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00409,Superfamily_domains:SSF48726	titin isoform N2-A				ENSP00000465570		103/313									COSM3407316,COSM3407317	103/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179569359A>C	12403			MODERATE		1.52	low	getma.org/?cm=msa&ty=f&p=D3DPG0_HUMAN&rb=9583&re=9669&var=F9630C	getma.org/pdb.php?prot=D3DPG0_HUMAN&from=9583&to=9669&var=F9630C	getma.org/?cm=var&var=hg19,2,179569359,A,C&fts=all	F9630C	--	--	1																																		TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.F5364C	1,1				p.F8703C	NM_133378	NP_596869			1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		102	26332	-			UPI00025287CD	9630					SNV	TTN,missense_variant,p.Phe9947Cys,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Phe9630Cys,ENST00000591111,;TTN,missense_variant,p.Phe8703Cys,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,intron_variant,,ENST00000342175,NM_133437.3;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,upstream_gene_variant,,ENST00000414766,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;	uc010zfg.1	c.26108T>G	29114/104301	3	3			c.26108T>G						2	SNP	c.(26107-26109)TTT>TGT	1	1			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179569359		0.368	ENSG00000155657	16485	g.chr2:179569359A>C			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	72.409756	KEEP	15	5	-1	11	8	15	5	-1	72.433463	11	8	0.526316	1	0	0	0	0	1	0	0	0	--	--		0	C			TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.F5364C	64	GBM-06-0686-TP	p.F8703C	A	GCTTATTTCAAATTTATCACT	NM_133378	NP_596869	179569359	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		102	26332	-	C	C			Missense_Mutation	9630						
TTN	7273	broad.mit.edu	GRCh37	2	179553840	179553840	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589042.1:c.32035G>A	p.Val10679Ile	p.V10679I	ENST00000589042	NM_001267550.1	10679	Gtc/Atc	0	T:0		1			T	V/I	uc010zfg.1	protein_coding					31084/103053						uncertain_significance			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(28303-28305)GTC>ATC			hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,Low_complexity_(Seg):seg	titin isoform N2-A			T:0.0001	ENSP00000465570		123/313	4.14E-05		8.65E-05			6.00E-05			rs369932282,COSM3407312,COSM3407313	123/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179553840C>T	12403			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=D3DPG0_HUMAN&rb=10322&re=10502&var=V10362I	NA	getma.org/?cm=var&var=hg19,2,179553840,C,T&fts=all	V10362I	--	--	1																																		TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V6096I|TTN_uc010fre.1_Missense_Mutation_p.V546I	1,1,1				p.V9435I	NM_133378	NP_596869			0,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		122	28527	-			UPI00025287CD	10362					SNV	TTN,missense_variant,p.Val10679Ile,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Val10362Ile,ENST00000591111,;TTN,missense_variant,p.Val9435Ile,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Val557Ile,ENST00000414766,;TTN,intron_variant,,ENST00000342175,NM_133437.3;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;	uc010zfg.1	c.28303G>A	31309/104301	2	2			c.28303G>A						2	SNP	c.(28303-28305)GTC>ATC	29	29			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179553840		0.428	ENSG00000155657	16485	g.chr2:179553840C>T			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	55.346474	KEEP	12	13	-1	29	37	12	13	-1	59.091069	29	37	0.269231	1	0	0	0	0	1	0	0	0	--	--		0	T			TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V6096I|TTN_uc010fre.1_Missense_Mutation_p.V546I	65	GBM-06-0743-TP	p.V9435I	C	TCCTCTGGGACGGGTTTCTTA	NM_133378	NP_596869	179553840	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		122	28527	-	T	T			Missense_Mutation	10362						
TTN	7273	broad.mit.edu	GRCh37	2	179412923	179412923	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01	TCGA-06-0744-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589042.1:c.93430C>T	p.Arg31144Trp	p.R31144W	ENST00000589042	NM_001267550.1	31144	Cgg/Tgg	0			1			A	R/W	uc010zfg.1	protein_coding					88507/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(85726-85728)CGG>TGG			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265	titin isoform N2-A				ENSP00000465570		289/313									COSM3407114,COSM3407113,COSM3407110,COSM3407112,COSM3407111	289/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179412923G>A	12403			MODERATE		2.755	medium	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=29474&re=29557&var=R29503W	getma.org/pdb.php?prot=TITIN_HUMAN&from=29474&to=29557&var=R29503W	getma.org/?cm=var&var=hg19,2,179412923,G,A&fts=all	R29503W	--	--	1																																		uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R22271W|TTN_uc010zfi.1_Missense_Mutation_p.R22204W|TTN_uc010zfj.1_Missense_Mutation_p.R22079W	1,1,1,1,1				p.R28576W	NM_133378	NP_596869			1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		288	85950	-			UPI00025287CD	29503					SNV	TTN,missense_variant,p.Arg31144Trp,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Arg29503Trp,ENST00000591111,;TTN,missense_variant,p.Arg28576Trp,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Arg22271Trp,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Arg22204Trp,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Arg22079Trp,ENST00000460472,NM_003319.4;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000438095,;RP11-65L3.2,upstream_gene_variant,,ENST00000603415,;TTN-AS1,downstream_gene_variant,,ENST00000590040,;	uc010zfg.1	c.85726C>T	88732/104301	1	1			c.85726C>T						2	SNP	c.(85726-85728)CGG>TGG	63	63			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179412923		0.493	ENSG00000155657	16485	g.chr2:179412923G>A			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	262.675709	KEEP	69	52	-1	81	69	69	52	-1	263.095985	81	69	0.449198	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R22271W|TTN_uc010zfi.1_Missense_Mutation_p.R22204W|TTN_uc010zfj.1_Missense_Mutation_p.R22079W	66	GBM-06-0744-TP	p.R28576W	G	CCAGTGATCCGGCTGCCTCCA	NM_133378	NP_596869	179412923	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		288	85950	-	A	A			Missense_Mutation	29503						
TTN	7273	broad.mit.edu	GRCh37	2	179542530	179542530	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0747-01	TCGA-06-0747-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589042.1:c.34109T>C	p.Val11370Ala	p.V11370A	ENST00000589042	NM_001267550.1	11370	gTt/gCt	0			1			G	V/A	uc010zfg.1	protein_coding					33158/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(30376-30378)GTT>GCT			hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,Low_complexity_(Seg):seg	titin isoform N2-A				ENSP00000465570		144/313									COSM3407308,COSM3407309	144/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179542530A>G	12403			MODERATE								--	--	1																																		TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V6787A|TTN_uc010fre.1_Intron|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA	1,1				p.V10126A	NM_133378	NP_596869			1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		143	30601	-			UPI00025287CD	11053					SNV	TTN,missense_variant,p.Val11370Ala,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Val11053Ala,ENST00000591111,;TTN,missense_variant,p.Val10126Ala,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,intron_variant,,ENST00000342175,NM_133437.3;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000414766,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;	uc010zfg.1	c.30377T>C	33383/104301	3	3			c.30377T>C						2	SNP	c.(30376-30378)GTT>GCT	62	62			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179542530		0.448	ENSG00000155657	16485	g.chr2:179542530A>G			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	314.467099	KEEP	52	50	-1	101	49	52	50	-1	315.622863	101	49	0.422018	1	0	0	0	0	1	0	0	0	--	--		0	G			TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V6787A|TTN_uc010fre.1_Intron|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA	68	GBM-06-0747-TP	p.V10126A	A	CTCAGGTAGAACTTCCTCTTC	NM_133378	NP_596869	179542530	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		143	30601	-	G	G			Missense_Mutation	11053						
TTN	7273	broad.mit.edu	GRCh37	2	179634524	179634524	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0879-01	TCGA-06-0879-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589042.1:c.8784G>T	p.Lys2928Asn	p.K2928N	ENST00000589042	NM_001267550.1	2928	aaG/aaT	0			1			A	K/N	uc010zfg.1	protein_coding					8784/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(8782-8784)AAG>AAT			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00409,Superfamily_domains:SSF48726	titin isoform N2-A				ENSP00000465570		37/313									COSM1013057,COSM1013056,COSM1591516,COSM1013055,COSM1013053,COSM1013058	37/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179634524C>A	12403			MODERATE		0.86	low	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=2882&re=2967&var=K2928N	getma.org/pdb.php?prot=TITIN_HUMAN&from=2882&to=2967&var=K2928N	getma.org/?cm=var&var=hg19,2,179634524,C,A&fts=all	K2928N	--	--	1																																		TTN_uc010zfh.1_Missense_Mutation_p.K2882N|TTN_uc010zfi.1_Missense_Mutation_p.K2882N|TTN_uc010zfj.1_Missense_Mutation_p.K2882N|TTN_uc002unb.2_Missense_Mutation_p.K2928N	1,1,1,1,1,1				p.K2928N	NM_133378	NP_596869			1,1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		37	9008	-			UPI00025287CD	2928					SNV	TTN,missense_variant,p.Lys2928Asn,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Lys2928Asn,ENST00000591111,;TTN,missense_variant,p.Lys2928Asn,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Lys2882Asn,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Lys2882Asn,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Lys2882Asn,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Lys2928Asn,ENST00000360870,NM_133379.4;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000610005,;TTN-AS1,upstream_gene_variant,,ENST00000584485,;	uc010zfg.1	c.8784G>T	9009/104301	1	1			c.8784G>T						2	SNP	c.(8782-8784)AAG>AAT	51	51			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179634524		0.458	ENSG00000155657	16485	g.chr2:179634524C>A			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	352.589391	KEEP	78	78	0.5	173	155	78	78	0.5	364.127356	173	155	0.320988	1	0	0	0	0	1	0	0	0	--	--		0	A			TTN_uc010zfh.1_Missense_Mutation_p.K2882N|TTN_uc010zfi.1_Missense_Mutation_p.K2882N|TTN_uc010zfj.1_Missense_Mutation_p.K2882N|TTN_uc002unb.2_Missense_Mutation_p.K2928N	75	GBM-06-0879-TP	p.K2928N	C	GCACAACTATCTTGAACTTTT	NM_133378	NP_596869	179634524	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		37	9008	-	A	A			Missense_Mutation	2928						
TTN	7273	broad.mit.edu	GRCh37	2	179438641	179438641	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0881-01	TCGA-06-0881-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589042.1:c.72218C>G	p.Thr24073Arg	p.T24073R	ENST00000589042	NM_001267550.1	24073	aCa/aGa	0			1			C	T/R	uc010zfg.1	protein_coding					67295/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(64513-64515)ACA>AGA			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	titin isoform N2-A				ENSP00000465570		276/313	3.31E-05							0.000244	rs753519331,COSM3407174,COSM3407173,COSM3407170,COSM3407172,COSM3407171	276/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179438641G>C	12403			MODERATE		0.99	low	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=22388&re=22478&var=T22432R	getma.org/pdb.php?prot=TITIN_HUMAN&from=22388&to=22478&var=T22432R	getma.org/?cm=var&var=hg19,2,179438641,G,C&fts=all	T22432R	--	--	1																																		uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T15200R|TTN_uc010zfi.1_Missense_Mutation_p.T15133R|TTN_uc010zfj.1_Missense_Mutation_p.T15008R	0,1,1,1,1,1				p.T21505R	NM_133378	NP_596869			0,1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		275	64738	-			UPI00025287CD	22432					SNV	TTN,missense_variant,p.Thr24073Arg,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Thr22432Arg,ENST00000591111,;TTN,missense_variant,p.Thr21505Arg,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Thr15200Arg,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Thr15133Arg,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Thr15008Arg,ENST00000460472,NM_003319.4;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000438095,;RP11-171I2.2,upstream_gene_variant,,ENST00000603521,;RP11-171I2.5,upstream_gene_variant,,ENST00000604215,;	uc010zfg.1	c.64514C>G	67520/104301	4	4			c.64514C>G						2	SNP	c.(64513-64515)ACA>AGA	48	48			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179438641		0.413	ENSG00000155657	16485	g.chr2:179438641G>C			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	-6.099268	KEEP	4	1	-1	47	40	4	1	-1	12.605644	47	40	0.055556	1	0	0	0	0	1	0	0	0	--	--		0	C			uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T15200R|TTN_uc010zfi.1_Missense_Mutation_p.T15133R|TTN_uc010zfj.1_Missense_Mutation_p.T15008R	76	GBM-06-0881-TP	p.T21505R	G	TAACTTTGCTGTGCCTTCCAG	NM_133378	NP_596869	179438641	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	64738	-	C	C			Missense_Mutation	22432						
TTN	7273	broad.mit.edu	GRCh37	2	179615121	179615121	+	intron_variant	Intron	SNP	A	A	G			TCGA-06-0881-01	TCGA-06-0881-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589042.1:c.11311+2730T>C		p.*3771*	ENST00000589042	NM_001267550.1			0			1			G		uc002unb.2	protein_coding					-/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(12004-12006)ACT>ACC				titin isoform novex-3				ENSP00000465570											COSM3407348		.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179615121A>G	12403			MODIFIER	45/312							--	--	1																																		TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	1				p.T4002T	NM_133379	NP_596870			1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		46	12230	-			UPI00025287CD	9818					SNV	TTN,synonymous_variant,p.=,ENST00000360870,NM_133379.4;TTN,intron_variant,,ENST00000589042,NM_001267550.1;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,intron_variant,,ENST00000342175,NM_133437.3;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000578746,;TTN-AS1,intron_variant,,ENST00000590773,;	uc002unb.2	c.12006T>C	-/104301	3	3			c.12006T>C						2	SNP	c.(12004-12006)ACT>ACC	4	4			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform novex-3			179615121		0.333	ENSG00000155657	16485	g.chr2:179615121A>G			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	-35.494399	KEEP	4	2	-1	124	65	4	2	-1	11.360259	124	65	0.026455	1	0	0	0	0	0	0	1	0	--	--		0	G			TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	76	GBM-06-0881-TP	p.T4002T	A	CAGATGAAAGAGTTAATATTG	NM_133379	NP_596870	179615121	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12230	-	G	G			Silent	9818						
TTN	7273	broad.mit.edu	GRCh37	2	179647637	179647637	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0881-01	TCGA-06-0881-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589042.1:c.2996G>A	p.Arg999His	p.R999H	ENST00000589042	NM_001267550.1	999	cGt/cAt	0	T:0		1			T	R/H	uc010zfg.1	protein_coding					2996/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(2995-2997)CGT>CAT			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	titin isoform N2-A			T:0.0001	ENSP00000465570		18/313	1.65E-05					1.50E-05	0.0011		rs371757623,COSM3407365,COSM3407364,COSM3407361,COSM3407363,COSM3407362,COSM3407366	18/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179647637C>T	12403			MODERATE		1.08	low	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=943&re=1032&var=R999H	getma.org/pdb.php?prot=TITIN_HUMAN&from=943&to=1032&var=R999H	getma.org/?cm=var&var=hg19,2,179647637,C,T&fts=all	R999H	--	--	1																																		TTN_uc010zfh.1_Missense_Mutation_p.R953H|TTN_uc010zfi.1_Missense_Mutation_p.R953H|TTN_uc010zfj.1_Missense_Mutation_p.R953H|TTN_uc002unb.2_Missense_Mutation_p.R999H	0,1,1,1,1,1,1				p.R999H	NM_133378	NP_596869			0,1,1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		18	3220	-			UPI00025287CD	999					SNV	TTN,missense_variant,p.Arg999His,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Arg999His,ENST00000591111,;TTN,missense_variant,p.Arg999His,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Arg953His,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Arg953His,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Arg953His,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Arg999His,ENST00000360870,NM_133379.4;TTN,downstream_gene_variant,,ENST00000436599,;RP11-88L24.4,downstream_gene_variant,,ENST00000582038,;	uc010zfg.1	c.2996G>A	3221/104301	2	2			c.2996G>A						2	SNP	c.(2995-2997)CGT>CAT	20	20			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179647637		0.493	ENSG00000155657	16485	g.chr2:179647637C>T			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	-9.947856	KEEP	5	6	-1	93	56	5	6	-1	19.871321	93	56	0.060811	1	0	0	0	0	1	0	0	0	--	--		0	T			TTN_uc010zfh.1_Missense_Mutation_p.R953H|TTN_uc010zfi.1_Missense_Mutation_p.R953H|TTN_uc010zfj.1_Missense_Mutation_p.R953H|TTN_uc002unb.2_Missense_Mutation_p.R999H	76	GBM-06-0881-TP	p.R999H	C	AATCATAAGACGAGCAATTCC	NM_133378	NP_596869	179647637	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		18	3220	-	T	T			Missense_Mutation	999						
TTN	7273	broad.mit.edu	GRCh37	2	179463526	179463526	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0882-01	TCGA-06-0882-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589042.1:c.56911G>A	p.Val18971Met	p.V18971M	ENST00000589042	NM_001267550.1	18971	Gtg/Atg	0	T:0		1			T	V/M	uc010zfg.1	protein_coding					51988/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(49207-49209)GTG>ATG			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265	titin isoform N2-A			T:0.0002	ENSP00000465570		241/313	5.79E-05	0.000102				7.51E-05		6.06E-05	rs373153121,COSM441755,COSM441754,COSM1482352,COSM441753,COSM441752	241/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179463526C>T	12403			MODERATE		1.075	low	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=17245&re=17334&var=V17330M	getma.org/pdb.php?prot=TITIN_HUMAN&from=17245&to=17334&var=V17330M	getma.org/?cm=var&var=hg19,2,179463526,C,T&fts=all	V17330M	--	--	1																																		uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V10098M|TTN_uc010zfi.1_Missense_Mutation_p.V10031M|TTN_uc010zfj.1_Missense_Mutation_p.V9906M	0,1,1,1,1,1				p.V16403M	NM_133378	NP_596869			0,1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		240	49431	-			UPI00025287CD	17330					SNV	TTN,missense_variant,p.Val18971Met,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Val17330Met,ENST00000591111,;TTN,missense_variant,p.Val16403Met,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Val10098Met,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Val10031Met,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Val9906Met,ENST00000460472,NM_003319.4;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,upstream_gene_variant,,ENST00000589487,;TTN-AS1,downstream_gene_variant,,ENST00000592689,;TTN-AS1,downstream_gene_variant,,ENST00000590932,;TTN-AS1,downstream_gene_variant,,ENST00000591332,;	uc010zfg.1	c.49207G>A	52213/104301	2	2			c.49207G>A						2	SNP	c.(49207-49209)GTG>ATG	32	32			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179463526		0.428	ENSG00000155657	16485	g.chr2:179463526C>T			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	152.513103	KEEP	38	43	-1	170	109	38	43	-1	171.920467	170	109	0.231293	1	0	0	0	0	1	0	0	0	--	--		0	T			uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V10098M|TTN_uc010zfi.1_Missense_Mutation_p.V10031M|TTN_uc010zfj.1_Missense_Mutation_p.V9906M	77	GBM-06-0882-TP	p.V16403M	C	GCTGGACCCACGCCAGCAGCA	NM_133378	NP_596869	179463526	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		240	49431	-	T	T			Missense_Mutation	17330						
TTN	7273	broad.mit.edu	GRCh37	2	179544077	179544077	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01	TCGA-06-0939-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589042.1:c.33731C>T	p.Pro11244Leu	p.P11244L	ENST00000589042	NM_001267550.1	11244	cCg/cTg	0			1			A	P/L	uc010zfg.1	protein_coding					32780/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(29998-30000)CCG>CTG			Pfam_domain:PF02818,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,Low_complexity_(Seg):seg	titin isoform N2-A				ENSP00000465570		140/313	9.11E-05							0.000667	rs760545521,COSM2904287,COSM2904288	140/313	common_variant		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179544077G>A	12403			MODERATE		2.98	medium	getma.org/?cm=msa&ty=f&p=A2TKE6_HUMAN&rb=21&re=88&var=P41L	NA	getma.org/?cm=var&var=hg19,2,179544077,G,A&fts=all	P41L	--	--	1																																		TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6661L|TTN_uc010fre.1_Intron|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA	0,1,1				p.P10000L	NM_133378	NP_596869			0,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		139	30223	-			UPI00025287CD	10927					SNV	TTN,missense_variant,p.Pro11244Leu,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Pro10927Leu,ENST00000591111,;TTN,missense_variant,p.Pro10000Leu,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,intron_variant,,ENST00000342175,NM_133437.3;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000414766,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;	uc010zfg.1	c.29999C>T	33005/104301	2	2			c.29999C>T						2	SNP	c.(29998-30000)CCG>CTG	35	35			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179544077		0.413	ENSG00000155657	16485	g.chr2:179544077G>A			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	77.854661	KEEP	25	12	-1	45	57	25	12	-1	83.351138	45	57	0.261682	1	0	0	0	0	1	0	0	0	--	--		0	A			TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6661L|TTN_uc010fre.1_Intron|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA	78	GBM-06-0939-TP	p.P10000L	G	TTTTGCTGGCGGAGGCTTCTC	NM_133378	NP_596869	179544077	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		139	30223	-	A	A			Missense_Mutation	10927						
TTN	7273	broad.mit.edu	GRCh37	2	179399105	179399108	+	frameshift_variant	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-06-0939-01	TCGA-06-0939-01	TCTT	TCTT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589042.1:c.102234_102237del	p.Arg34079SerfsTer9	p.R34079Sfs*9	ENST00000589042	NM_001267550.1	34078	gaAAGA/ga	0			1			-	ER/X	uc010zfg.1	protein_coding					97311-97314/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(94528-94533)GAAAGAfs			Gene3D:1.10.510.10,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,Superfamily_domains:SSF56112	titin isoform N2-A				ENSP00000465570		308/313									rs754731686	308/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179399105_179399108delTCTT	12403			HIGH								--	--	1																																		uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Frame_Shift_Del_p.E25205fs|TTN_uc010zfi.1_Frame_Shift_Del_p.E25138fs|TTN_uc010zfj.1_Frame_Shift_Del_p.E25013fs					p.E31510fs	NM_133378	NP_596869				TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		307	94754_94757	-			UPI00025287CD	32437_32438					deletion	TTN,frameshift_variant,p.Arg34079SerfsTer9,ENST00000589042,NM_001267550.1;TTN,frameshift_variant,p.Arg32438SerfsTer9,ENST00000591111,;TTN,frameshift_variant,p.Arg31511SerfsTer9,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,frameshift_variant,p.Arg25206SerfsTer9,ENST00000342175,NM_133437.3;TTN,frameshift_variant,p.Arg25139SerfsTer9,ENST00000359218,NM_133432.3;TTN,frameshift_variant,p.Arg25014SerfsTer9,ENST00000460472,NM_003319.4;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000589434,;TTN-AS1,intron_variant,,ENST00000431259,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000590040,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000442329,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000588257,;TTN-AS1,intron_variant,,ENST00000589391,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000591466,;TTN-AS1,intron_variant,,ENST00000585358,;TTN-AS1,intron_variant,,ENST00000585487,;TTN-AS1,intron_variant,,ENST00000592182,;TTN-AS1,intron_variant,,ENST00000591867,;TTN-AS1,intron_variant,,ENST00000588244,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000450692,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000588804,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589842,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000588716,;TTN-AS1,intron_variant,,ENST00000592836,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,downstream_gene_variant,,ENST00000587944,;TTN-AS1,downstream_gene_variant,,ENST00000585625,;TTN-AS1,downstream_gene_variant,,ENST00000587568,;TTN-AS1,downstream_gene_variant,,ENST00000604571,;TTN-AS1,downstream_gene_variant,,ENST00000589355,;TTN-AS1,upstream_gene_variant,,ENST00000415561,;	uc010zfg.1	c.94530_94533delAAGA	97536-97539/104301	5	5			c.94530_94533delAAGA						2	DEL	c.(94528-94533)GAAAGAfs	29	29			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179399108		0.461	ENSG00000155657	16485	g.chr2:179399105_179399108delTCTT			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722														0.21	1	1	0	1	0	0	0	0	0	--	--		0	-			uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Frame_Shift_Del_p.E25205fs|TTN_uc010zfi.1_Frame_Shift_Del_p.E25138fs|TTN_uc010zfj.1_Frame_Shift_Del_p.E25013fs	78	GBM-06-0939-TP	p.E31510fs	TCTT	TAGTACTGACTCTTTCTATCTTCT	NM_133378	NP_596869	179399105	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	94754_94757	-	-	-			Frame_Shift_Del	32437_32438						
TTN	7273	broad.mit.edu	GRCh37	2	179446906	179446906	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-2562-01	TCGA-06-2562-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589042.1:c.66190A>G	p.Ile22064Val	p.I22064V	ENST00000589042	NM_001267550.1	22064	Att/Gtt	0			1			C	I/V	uc010zfg.1	protein_coding					61267/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(58486-58488)ATT>GTT			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265	titin isoform N2-A				ENSP00000465570		265/313									COSM3407190,COSM3407189,COSM3407186,COSM3407188,COSM3407187	265/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179446906T>C	12403			MODERATE		-0.315	neutral	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=20418&re=20501&var=I20423V	getma.org/pdb.php?prot=TITIN_HUMAN&from=20418&to=20501&var=I20423V	getma.org/?cm=var&var=hg19,2,179446906,T,C&fts=all	I20423V	--	--	1																																		uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I13191V|TTN_uc010zfi.1_Missense_Mutation_p.I13124V|TTN_uc010zfj.1_Missense_Mutation_p.I12999V	1,1,1,1,1				p.I19496V	NM_133378	NP_596869			1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		264	58710	-			UPI00025287CD	20423					SNV	TTN,missense_variant,p.Ile22064Val,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Ile20423Val,ENST00000591111,;TTN,missense_variant,p.Ile19496Val,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Ile13191Val,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Ile13124Val,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Ile12999Val,ENST00000460472,NM_003319.4;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000438095,;RP11-171I2.2,downstream_gene_variant,,ENST00000603521,;TTN-AS1,upstream_gene_variant,,ENST00000590743,;TTN-AS1,upstream_gene_variant,,ENST00000589907,;RP11-171I2.5,downstream_gene_variant,,ENST00000604215,;	uc010zfg.1	c.58486A>G	61492/104301	3	3			c.58486A>G						2	SNP	c.(58486-58488)ATT>GTT	1	1			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179446906		0.418	ENSG00000155657	16485	g.chr2:179446906T>C			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity		p.I19496F(BXPC3-Tumor)	8722		p.I19496F(BXPC3-Tumor)	8722	245.874694	KEEP	43	26	-1	49	67	43	26	-1	247.68758	49	67	0.390805	1	0	0	0	0	1	0	0	0	--	--		0	C			uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I13191V|TTN_uc010zfi.1_Missense_Mutation_p.I13124V|TTN_uc010zfj.1_Missense_Mutation_p.I12999V	85	GBM-06-2562-TP	p.I19496V	T	ATGTTGCTAATAACAGGAGGA	NM_133378	NP_596869	179446906	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		264	58710	-	C	C			Missense_Mutation	20423						
TTN	7273	broad.mit.edu	GRCh37	2	179419816	179419816	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01	TCGA-06-2564-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589042.1:c.88370C>T	p.Ser29457Phe	p.S29457F	ENST00000589042	NM_001267550.1	29457	tCt/tTt	0			1			A	S/F	uc010zfg.1	protein_coding					83447/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(80665-80667)TCT>TTT			Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	titin isoform N2-A				ENSP00000465570		281/313									COSM2897609,COSM2897608,COSM2897605,COSM2897607,COSM2897606	281/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179419816G>A	12403			MODERATE		2.495	medium	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=27803&re=27889&var=S27816F	getma.org/pdb.php?prot=TITIN_HUMAN&from=27803&to=27889&var=S27816F	getma.org/?cm=var&var=hg19,2,179419816,G,A&fts=all	S27816F	--	--	1																																		uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S20584F|TTN_uc010zfi.1_Missense_Mutation_p.S20517F|TTN_uc010zfj.1_Missense_Mutation_p.S20392F	1,1,1,1,1				p.S26889F	NM_133378	NP_596869			1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		280	80890	-			UPI00025287CD	27816					SNV	TTN,missense_variant,p.Ser29457Phe,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Ser27816Phe,ENST00000591111,;TTN,missense_variant,p.Ser26889Phe,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Ser20584Phe,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Ser20517Phe,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Ser20392Phe,ENST00000460472,NM_003319.4;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000438095,;RP11-65L3.2,downstream_gene_variant,,ENST00000603415,;	uc010zfg.1	c.80666C>T	83672/104301	2	2			c.80666C>T						2	SNP	c.(80665-80667)TCT>TTT	45	45			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179419816		0.373	ENSG00000155657	16485	g.chr2:179419816G>A			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	119.997891	KEEP	21	26	-1	32	39	21	26	-1	121.424985	32	39	0.375	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S20584F|TTN_uc010zfi.1_Missense_Mutation_p.S20517F|TTN_uc010zfj.1_Missense_Mutation_p.S20392F	87	GBM-06-2564-TP	p.S26889F	G	GAGCTTCACAGATGTACCTGC	NM_133378	NP_596869	179419816	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		280	80890	-	A	A			Missense_Mutation	27816						
TTN	7273	broad.mit.edu	GRCh37	2	179647077	179647077	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5413-01	TCGA-06-5413-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589042.1:c.3242C>T	p.Ala1081Val	p.A1081V	ENST00000589042	NM_001267550.1	1081	gCg/gTg	0		A:0	1	A:0		A	A/V	uc010zfg.1	protein_coding					3242/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(3241-3243)GCG>GTG			Gene3D:2.60.40.10,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6	titin isoform N2-A		A:0.001		ENSP00000465570	A:0	20/313	3.29E-05			0.000464					rs528216574,COSM1664831,COSM1664830,COSM1664827,COSM1664829,COSM1664828,COSM1664832	20/313	common_variant		ENST00000591111	Transcript	1	A:0.0002			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179647077G>A	12403			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=1033&re=1081&var=A1081V	NA	getma.org/?cm=var&var=hg19,2,179647077,G,A&fts=all	A1081V	--	--	1																																		TTN_uc010zfh.1_Missense_Mutation_p.A1035V|TTN_uc010zfi.1_Missense_Mutation_p.A1035V|TTN_uc010zfj.1_Missense_Mutation_p.A1035V|TTN_uc002unb.2_Missense_Mutation_p.A1081V	0,1,1,1,1,1,1				p.A1081V	NM_133378	NP_596869	A:0		0,1,1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		20	3466	-			UPI00025287CD	1081					SNV	TTN,missense_variant,p.Ala1081Val,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Ala1081Val,ENST00000591111,;TTN,missense_variant,p.Ala1081Val,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Ala1035Val,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Ala1035Val,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Ala1035Val,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Ala1081Val,ENST00000360870,NM_133379.4;TTN,downstream_gene_variant,,ENST00000436599,;RP11-88L24.4,downstream_gene_variant,,ENST00000582038,;	uc010zfg.1	c.3242C>T	3467/104301	1	1			c.3242C>T						2	SNP	c.(3241-3243)GCG>GTG	58	58			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179647077		0.502	ENSG00000155657	16485	g.chr2:179647077G>A			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	61.393229	KEEP	11	11	-1	17	14	11	11	-1	61.6047	17	14	0.428571	1	0	0	0	0	1	0	0	0	--	--		0	A			TTN_uc010zfh.1_Missense_Mutation_p.A1035V|TTN_uc010zfi.1_Missense_Mutation_p.A1035V|TTN_uc010zfj.1_Missense_Mutation_p.A1035V|TTN_uc002unb.2_Missense_Mutation_p.A1081V	96	GBM-06-5413-TP	p.A1081V	G	AAAGTAAGGCGCGGCAGGTTC	NM_133378	NP_596869	179647077	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		20	3466	-	A	A			Missense_Mutation	1081						
TTN	7273	broad.mit.edu	GRCh37	2	179396884	179396884	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000589042.1:c.104458G>A	p.Glu34820Lys	p.E34820K	ENST00000589042	NM_001267550.1	34820	Gaa/Aaa	0			1			T	E/K	uc010zfg.1	protein_coding					99535/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(96754-96756)GAA>AAA			hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,Low_complexity_(Seg):seg	titin isoform N2-A				ENSP00000465570		308/313	4.96E-05	0.000102		0.000234		1.51E-05	0.00111	6.07E-05	rs766062367,COSM224845,COSM224846,COSM2895742,COSM224844,COSM224847	308/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179396884C>T	12403			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=33071&re=33270&var=E33179K	NA	getma.org/?cm=var&var=hg19,2,179396884,C,T&fts=all	E33179K	--	--	1																																		uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E25947K|TTN_uc010zfi.1_Missense_Mutation_p.E25880K|TTN_uc010zfj.1_Missense_Mutation_p.E25755K|TTN_uc002umq.2_5'Flank	0,1,1,1,1,1				p.E32252K	NM_133378	NP_596869			0,1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		307	96978	-			UPI00025287CD	33179					SNV	TTN,missense_variant,p.Glu34820Lys,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Glu33179Lys,ENST00000591111,;TTN,missense_variant,p.Glu32252Lys,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Glu25947Lys,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Glu25880Lys,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Glu25755Lys,ENST00000460472,NM_003319.4;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000589434,;TTN-AS1,intron_variant,,ENST00000431259,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000590040,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000442329,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000588257,;TTN-AS1,intron_variant,,ENST00000589391,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000591466,;TTN-AS1,intron_variant,,ENST00000585358,;TTN-AS1,intron_variant,,ENST00000585487,;TTN-AS1,intron_variant,,ENST00000592182,;TTN-AS1,intron_variant,,ENST00000591867,;TTN-AS1,intron_variant,,ENST00000588244,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000450692,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000588804,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589842,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000588716,;TTN-AS1,intron_variant,,ENST00000592836,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,downstream_gene_variant,,ENST00000587944,;TTN-AS1,downstream_gene_variant,,ENST00000585625,;TTN-AS1,downstream_gene_variant,,ENST00000587568,;TTN-AS1,downstream_gene_variant,,ENST00000604571,;TTN-AS1,downstream_gene_variant,,ENST00000592161,;TTN-AS1,downstream_gene_variant,,ENST00000589355,;TTN-AS1,downstream_gene_variant,,ENST00000587576,;	uc010zfg.1	c.96754G>A	99760/104301	1	1			c.96754G>A						2	SNP	c.(96754-96756)GAA>AAA	11	11			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179396884		0.413	ENSG00000155657	16485	g.chr2:179396884C>T			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity		p.E32252K(SNU283-Tumor)	8722		p.E32252K(SNU283-Tumor)	8722	107.517406	KEEP	17	16	-1	8	6	17	16	-1	109.565418	8	6	0.727273	1	0	0	0	0	1	0	0	0	--	--		0	T			uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E25947K|TTN_uc010zfi.1_Missense_Mutation_p.E25880K|TTN_uc010zfj.1_Missense_Mutation_p.E25755K|TTN_uc002umq.2_5'Flank	102	GBM-06-5858-TP	p.E32252K	C	TTTGAGATTTCGTATTCTTCC	NM_133378	NP_596869	179396884	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	96978	-	T	T			Missense_Mutation	33179						
TTN	0	broad.mit.edu	GRCh37	2	179454762	179454762	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01	TCGA-12-1597-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.56767G>A	p.Val18923Ile	p.V18923I	ENST00000591111		18923	Gtt/Att	0			1			T	V/I	uc010zfg.1	protein_coding					56767/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(53986-53988)GTT>ATT			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00409,Superfamily_domains:SSF48726	titin isoform N2-A				ENSP00000465570		254/313	8.28E-06					1.50E-05			rs761270633,COSM3407220,COSM3407219,COSM3407216,COSM3407218,COSM3407217	254/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179454762C>T	12403			MODERATE		1.95	medium	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=18838&re=18925&var=V18923I	getma.org/pdb.php?prot=TITIN_HUMAN&from=18838&to=18925&var=V18923I	getma.org/?cm=var&var=hg19,2,179454762,C,T&fts=all	V18923I	--	--	1																																		uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V11691I|TTN_uc010zfi.1_Missense_Mutation_p.V11624I|TTN_uc010zfj.1_Missense_Mutation_p.V11499I	0,1,1,1,1,1				p.V17996I	NM_133378	NP_596869			0,1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		253	54210	-			UPI00025287CD	18923					SNV	TTN,missense_variant,p.Val20564Ile,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Val18923Ile,ENST00000591111,;TTN,missense_variant,p.Val17996Ile,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Val11691Ile,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Val11624Ile,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Val11499Ile,ENST00000460472,NM_003319.4;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000590743,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,upstream_gene_variant,,ENST00000589234,;	uc010zfg.1	c.53986G>A	56992/104301	1	1			c.53986G>A						2	SNP	c.(53986-53988)GTT>ATT	11	11			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179454762		0.428	ENSG00000155657	16485	g.chr2:179454762C>T			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	150.672004	KEEP	25	29	-1	48	43	25	29	-1	152.701829	48	43	0.371429	1	0	0	0	0	1	0	0	0	--	--		0	T			uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V11691I|TTN_uc010zfi.1_Missense_Mutation_p.V11624I|TTN_uc010zfj.1_Missense_Mutation_p.V11499I	124	GBM-12-1597-TP	p.V17996I	C	AGGACGTTAACGATGGCTGAA	NM_133378	NP_596869	179454762	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		253	54210	-	T	T			Missense_Mutation	18923						
TTN	0	broad.mit.edu	GRCh37	2	179584862	179584862	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-12-1597-01	TCGA-12-1597-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.22556T>C	p.Ile7519Thr	p.I7519T	ENST00000591111		7519	aTc/aCc	0			1			G	I/T	uc010zfg.1	protein_coding					22556/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(19774-19776)ATC>ACC			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	titin isoform N2-A				ENSP00000465570		79/313									COSM3407328,COSM3407329	79/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179584862A>G	12403			MODERATE		2.285	medium	getma.org/?cm=msa&ty=f&p=D3DPG0_HUMAN&rb=7478&re=7568&var=I7519T	getma.org/pdb.php?prot=D3DPG0_HUMAN&from=7478&to=7568&var=I7519T	getma.org/?cm=var&var=hg19,2,179584862,A,G&fts=all	I7519T	--	--	1																																		TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I3253T	1,1				p.I6592T	NM_133378	NP_596869			1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		78	19999	-			UPI00025287CD	7519					SNV	TTN,missense_variant,p.Ile7836Thr,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Ile7519Thr,ENST00000591111,;TTN,missense_variant,p.Ile6592Thr,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,intron_variant,,ENST00000342175,NM_133437.3;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN-AS1,intron_variant,,ENST00000585451,;RP11-171I2.1,upstream_gene_variant,,ENST00000590024,;	uc010zfg.1	c.19775T>C	22781/104301	3	3			c.19775T>C						2	SNP	c.(19774-19776)ATC>ACC	50	50			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179584862		0.448	ENSG00000155657	16485	g.chr2:179584862A>G			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	199.590906	KEEP	32	34	-1	40	32	32	34	-1	199.804572	40	32	0.455285	1	0	0	0	0	1	0	0	0	--	--		0	G			TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I3253T	124	GBM-12-1597-TP	p.I6592T	A	ACTCTCTCTGATGACTTCACC	NM_133378	NP_596869	179584862	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		78	19999	-	G	G			Missense_Mutation	7519						
TTN	0	broad.mit.edu	GRCh37	2	179528769	179528769	+	intron_variant	Intron	SNP	T	T	G			TCGA-14-0813-01	TCGA-14-0813-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.34265-5248A>C		*11422*	ENST00000591111				0			1			G		uc010zfk.1	protein_coding					-/103053								p.R256_K260>K(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(775-777)AAA>CAA				SubName: Full=Titin; Flags: Fragment;				ENSP00000465570											COSM3407307		.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179528769T>G	12403			MODIFIER	153/312							--	--	1																																		TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron	1				p.K259Q					1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		14	1323	-			UPI00025287CD	11471					SNV	TTN,missense_variant,p.Lys12113Gln,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Lys177Gln,ENST00000425332,;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,intron_variant,,ENST00000342175,NM_133437.3;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000414766,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;	uc010zfk.1	c.775A>C	-/104301	3	3			c.775A>C						2	SNP	c.(775-777)AAA>CAA	1	1		p.R256_K260>K(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	SubName: Full=Titin; Flags: Fragment;			179528769		0.388	ENSG00000155657	16485	g.chr2:179528769T>G			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	7.715211	KEEP	9	3	-1	56	51	9	3	-1	25.49904	56	51	0.093458	1	0	0	0	0	1	0	0	0	--	--		0	G			TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron	138	GBM-14-0813-TP	p.K259Q	T	TCAGGCTTTTTAGGAGGCACC			179528769	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		14	1323	-	G	G			Missense_Mutation	11471						
TTN	0	broad.mit.edu	GRCh37	2	179474032	179474032	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.47082C>T	p.Arg15694=	p.R15694=	ENST00000591111		15694	cgC/cgT	0			1			A	R	uc010zfg.1	protein_coding					47082/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(44299-44301)CGC>CGT			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	titin isoform N2-A				ENSP00000465570		223/313									COSM1402826,COSM1402825,COSM1402822,COSM1402824,COSM1402823	223/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179474032G>A	12403			LOW								--	--	1																																		uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.R8462R|TTN_uc010zfi.1_Silent_p.R8395R|TTN_uc010zfj.1_Silent_p.R8270R	1,1,1,1,1				p.R14767R	NM_133378	NP_596869			1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		222	44525	-			UPI00025287CD	15694					SNV	TTN,synonymous_variant,p.=,ENST00000589042,NM_001267550.1;TTN,synonymous_variant,p.=,ENST00000591111,;TTN,synonymous_variant,p.=,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,synonymous_variant,p.=,ENST00000342175,NM_133437.3;TTN,synonymous_variant,p.=,ENST00000359218,NM_133432.3;TTN,synonymous_variant,p.=,ENST00000460472,NM_003319.4;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,downstream_gene_variant,,ENST00000419746,;TTN-AS1,downstream_gene_variant,,ENST00000586452,;	uc010zfg.1	c.44301C>T	47307/104301	2	2			c.44301C>T						2	SNP	c.(44299-44301)CGC>CGT	25	25			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179474032		0.458	ENSG00000155657	16485	g.chr2:179474032G>A			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	63.605209	KEEP	14	11	-1	33	18	14	11	-1	65.301049	33	18	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	A			uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.R8462R|TTN_uc010zfi.1_Silent_p.R8395R|TTN_uc010zfj.1_Silent_p.R8270R	142	GBM-14-1034-TP	p.R14767R	G	AATCTCGGACGCGTAGCTGAG	NM_133378	NP_596869	179474032	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		222	44525	-	A	A			Silent	15694						
TTN	0	broad.mit.edu	GRCh37	2	179454479	179454479	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01	TCGA-14-1823-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.57050C>T	p.Thr19017Ile	p.T19017I	ENST00000591111		19017	aCt/aTt	0			1			A	T/I	uc010zfg.1	protein_coding					57050/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(54268-54270)ACT>ATT			Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,Superfamily_domains:SSF49265	titin isoform N2-A				ENSP00000465570		254/313									COSM3407215,COSM3407214,COSM3407211,COSM3407213,COSM3407212	254/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179454479G>A	12403			MODERATE		1.185	low	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=18929&re=19019&var=T19017I	getma.org/pdb.php?prot=TITIN_HUMAN&from=18929&to=19019&var=T19017I	getma.org/?cm=var&var=hg19,2,179454479,G,A&fts=all	T19017I	--	--	1																																		uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T11785I|TTN_uc010zfi.1_Missense_Mutation_p.T11718I|TTN_uc010zfj.1_Missense_Mutation_p.T11593I	1,1,1,1,1				p.T18090I	NM_133378	NP_596869			1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		253	54493	-			UPI00025287CD	19017					SNV	TTN,missense_variant,p.Thr20658Ile,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Thr19017Ile,ENST00000591111,;TTN,missense_variant,p.Thr18090Ile,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Thr11785Ile,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Thr11718Ile,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Thr11593Ile,ENST00000460472,NM_003319.4;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000590743,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,downstream_gene_variant,,ENST00000586707,;TTN-AS1,downstream_gene_variant,,ENST00000592600,;TTN-AS1,upstream_gene_variant,,ENST00000589234,;TTN-AS1,downstream_gene_variant,,ENST00000586831,;	uc010zfg.1	c.54269C>T	57275/104301	2	2			c.54269C>T						2	SNP	c.(54268-54270)ACT>ATT	45	45			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179454479		0.413	ENSG00000155657	16485	g.chr2:179454479G>A			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	121.061046	KEEP	40	27	-1	192	138	40	27	-1	159.438737	192	138	0.165746	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T11785I|TTN_uc010zfi.1_Missense_Mutation_p.T11718I|TTN_uc010zfj.1_Missense_Mutation_p.T11593I	147	GBM-14-1823-TP	p.T18090I	G	CAGAATGGGAGTTTTTGTTTC	NM_133378	NP_596869	179454479	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		253	54493	-	A	A			Missense_Mutation	19017						
TTN	0	broad.mit.edu	GRCh37	2	179572434	179572434	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-2554-01	TCGA-14-2554-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.27909G>T	p.Arg9303Ser	p.R9303S	ENST00000591111		9303	agG/agT	0			1			A	R/S	uc010zfg.1	protein_coding					27909/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(25126-25128)AGG>AGT			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	titin isoform N2-A				ENSP00000465570		98/313									COSM3407322,COSM3407323	98/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179572434C>A	12403			MODERATE		0.15	neutral	getma.org/?cm=msa&ty=f&p=D3DPG0_HUMAN&rb=9273&re=9362&var=R9303S	getma.org/pdb.php?prot=D3DPG0_HUMAN&from=9273&to=9362&var=R9303S	getma.org/?cm=var&var=hg19,2,179572434,C,A&fts=all	R9303S	--	--	1																																		TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R5037S	1,1				p.R8376S	NM_133378	NP_596869			1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		97	25352	-			UPI00025287CD	9303					SNV	TTN,missense_variant,p.Arg9620Ser,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Arg9303Ser,ENST00000591111,;TTN,missense_variant,p.Arg8376Ser,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,intron_variant,,ENST00000342175,NM_133437.3;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;	uc010zfg.1	c.25128G>T	28134/104301	2	2			c.25128G>T						2	SNP	c.(25126-25128)AGG>AGT	21	21			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179572434		0.498	ENSG00000155657	16485	g.chr2:179572434C>A			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	95.0559	KEEP	22	29	0.568627451	48	48	22	29	0.568627451	97.842367	48	48	0.330275	1	0	0	0	0	1	0	0	0	--	--		0	A			TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R5037S	150	GBM-14-2554-TP	p.R8376S	C	ACCACTGGATCCTAATTGGCT	NM_133378	NP_596869	179572434	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		97	25352	-	A	A			Missense_Mutation	9303						
TTN	0	broad.mit.edu	GRCh37	2	179613920	179613920	+	intron_variant	Intron	SNP	C	C	A			TCGA-14-3476-01	TCGA-14-3476-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.10360+3931G>T		*3454*	ENST00000591111				0			1			A		uc002unb.2	protein_coding					-/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(13207-13209)GGT>TGT				titin isoform novex-3				ENSP00000465570											COSM3407347		.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179613920C>A	12403			MODIFIER	45/312	0.345	neutral	getma.org/?cm=msa&ty=f&p=Q7Z3B7_HUMAN&rb=17&re=164&var=G62C	NA	getma.org/?cm=var&var=hg19,2,179613920,C,A&fts=all	G62C	--	--	1																																		TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	1				p.G4403C	NM_133379	NP_596870			1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		46	13431	-			UPI00025287CD	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					SNV	TTN,missense_variant,p.Gly4403Cys,ENST00000360870,NM_133379.4;TTN,intron_variant,,ENST00000589042,NM_001267550.1;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,intron_variant,,ENST00000342175,NM_133437.3;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000578746,;TTN-AS1,intron_variant,,ENST00000590773,;	uc002unb.2	c.13207G>T	-/104301	2	2			c.13207G>T						2	SNP	c.(13207-13209)GGT>TGT	35	35			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform novex-3			179613920		0.328	ENSG00000155657	16485	g.chr2:179613920C>A			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	77.391438	KEEP	13	18	0.580645161	40	49	13	18	0.580645161	83.347984	40	49	0.26087	1	0	0	0	0	1	0	0	0	--	--		0	A			TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	151	GBM-14-3476-TP	p.G4403C	C	TCTGATCTACCAAGTTTTCCA	NM_133379	NP_596870	179613920	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	13431	-	A	A			Missense_Mutation	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						
TTN	0	broad.mit.edu	GRCh37	2	179442852	179442852	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-0861-01	TCGA-16-0861-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.63467C>T	p.Pro21156Leu	p.P21156L	ENST00000591111		21156	cCg/cTg	0			1			A	P/L	uc010zfg.1	protein_coding					63467/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(60685-60687)CCG>CTG			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265	titin isoform N2-A				ENSP00000465570		272/313									COSM2900089,COSM2900088,COSM2900085,COSM2900087,COSM2900086	272/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179442852G>A	12403			MODERATE		0.87	low	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=21104&re=21189&var=P21156L	getma.org/pdb.php?prot=TITIN_HUMAN&from=21104&to=21189&var=P21156L	getma.org/?cm=var&var=hg19,2,179442852,G,A&fts=all	P21156L	--	--	1																																		uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P13924L|TTN_uc010zfi.1_Missense_Mutation_p.P13857L|TTN_uc010zfj.1_Missense_Mutation_p.P13732L|uc002umv.1_5'Flank	1,1,1,1,1				p.P20229L	NM_133378	NP_596869			1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		271	60910	-			UPI00025287CD	21156					SNV	TTN,missense_variant,p.Pro22797Leu,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Pro21156Leu,ENST00000591111,;TTN,missense_variant,p.Pro20229Leu,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Pro13924Leu,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Pro13857Leu,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Pro13732Leu,ENST00000460472,NM_003319.4;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000438095,;RP11-171I2.2,upstream_gene_variant,,ENST00000603521,;RP11-171I2.5,downstream_gene_variant,,ENST00000604215,;	uc010zfg.1	c.60686C>T	63692/104301	1	1			c.60686C>T						2	SNP	c.(60685-60687)CCG>CTG	52	52			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179442852		0.418	ENSG00000155657	16485	g.chr2:179442852G>A			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity		p.P20229L(NALM6-Tumor)|p.P20229L(MOLT13-Tumor)	8722		p.P20229L(NALM6-Tumor)|p.P20229L(MOLT13-Tumor)	8722	224.289238	KEEP	46	31	-1	60	62	46	31	-1	226.212899	60	62	0.39011	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P13924L|TTN_uc010zfi.1_Missense_Mutation_p.P13857L|TTN_uc010zfj.1_Missense_Mutation_p.P13732L|uc002umv.1_5'Flank	156	GBM-16-0861-TP	p.P20229L	G	CATCCTTATCGGAGTCTTGTT	NM_133378	NP_596869	179442852	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		271	60910	-	A	A			Missense_Mutation	21156						
TTN	0	broad.mit.edu	GRCh37	2	179500424	179500424	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-16-1045-01	TCGA-16-1045-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.36704delT	p.Leu12235ArgfsTer2	p.L12235Rfs*2	ENST00000591111		12235	cTg/cg	0			1			-	L/X	uc010zfg.1	protein_coding					36704/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(33922-33924)CTGfs			hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,Superfamily_domains:SSF48726	titin isoform N2-A				ENSP00000465570		177/313										177/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179500424delA	12403			HIGH								--	--	1																																		TTN_uc010zfh.1_Frame_Shift_Del_p.L5003fs|TTN_uc010zfi.1_Frame_Shift_Del_p.L4936fs|TTN_uc010zfj.1_Frame_Shift_Del_p.L4811fs					p.L11308fs	NM_133378	NP_596869				TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		176	34147	-			UPI00025287CD	12235					deletion	TTN,frameshift_variant,p.Leu13876ArgfsTer2,ENST00000589042,NM_001267550.1;TTN,frameshift_variant,p.Leu12235ArgfsTer2,ENST00000591111,;TTN,frameshift_variant,p.Leu11308ArgfsTer2,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,frameshift_variant,p.Leu5003ArgfsTer2,ENST00000342175,NM_133437.3;TTN,frameshift_variant,p.Leu4936ArgfsTer2,ENST00000359218,NM_133432.3;TTN,frameshift_variant,p.Leu4811ArgfsTer2,ENST00000460472,NM_003319.4;TTN,downstream_gene_variant,,ENST00000414766,;TTN,downstream_gene_variant,,ENST00000446966,;TTN,downstream_gene_variant,,ENST00000426232,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,upstream_gene_variant,,ENST00000431752,;TTN-AS1,downstream_gene_variant,,ENST00000589907,;TTN-AS1,upstream_gene_variant,,ENST00000418062,;	uc010zfg.1	c.33923delT	36929/104301	5	5			c.33923delT						2	DEL	c.(33922-33924)CTGfs	35	35			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179500424		0.353	ENSG00000155657	16485	g.chr2:179500424delA			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722														0.26	1	1	0	1	0	0	0	0	0	--	--		0	-			TTN_uc010zfh.1_Frame_Shift_Del_p.L5003fs|TTN_uc010zfi.1_Frame_Shift_Del_p.L4936fs|TTN_uc010zfj.1_Frame_Shift_Del_p.L4811fs	157	GBM-16-1045-TP	p.L11308fs	A	AGGTTTCACCAGCCAATCTCT	NM_133378	NP_596869	179500424	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		176	34147	-	-	-			Frame_Shift_Del	12235						
TTN	0	broad.mit.edu	GRCh37	2	179431720	179431720	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-1390-01	TCGA-19-1390-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.74216T>C	p.Met24739Thr	p.M24739T	ENST00000591111		24739	aTg/aCg	0			1			G	M/T	uc010zfg.1	protein_coding					74216/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(71434-71436)ATG>ACG			Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,Superfamily_domains:SSF49265	titin isoform N2-A				ENSP00000465570		276/313									COSM3407159,COSM3407158,COSM3407155,COSM3407157,COSM3407156	276/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179431720A>G	12403			MODERATE		0.53	neutral	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=24703&re=24776&var=M24739T	getma.org/pdb.php?prot=TITIN_HUMAN&from=24733&to=24746&var=M24739T	getma.org/?cm=var&var=hg19,2,179431720,A,G&fts=all	M24739T	--	--	1																																		uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.M17507T|TTN_uc010zfi.1_Missense_Mutation_p.M17440T|TTN_uc010zfj.1_Missense_Mutation_p.M17315T	1,1,1,1,1				p.M23812T	NM_133378	NP_596869			1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		275	71659	-			UPI00025287CD	24739					SNV	TTN,missense_variant,p.Met26380Thr,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Met24739Thr,ENST00000591111,;TTN,missense_variant,p.Met23812Thr,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Met17507Thr,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Met17440Thr,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Met17315Thr,ENST00000460472,NM_003319.4;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000438095,;	uc010zfg.1	c.71435T>C	74441/104301	3	3			c.71435T>C						2	SNP	c.(71434-71436)ATG>ACG	16	16			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179431720		0.403	ENSG00000155657	16485	g.chr2:179431720A>G			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	162.714433	KEEP	34	26	-1	62	64	34	26	-1	167.301997	62	64	0.327586	1	0	0	0	0	1	0	0	0	--	--		0	G			uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.M17507T|TTN_uc010zfi.1_Missense_Mutation_p.M17440T|TTN_uc010zfj.1_Missense_Mutation_p.M17315T	159	GBM-19-1390-TP	p.M23812T	A	TGGATTTTTCATTAGTACTGG	NM_133378	NP_596869	179431720	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	71659	-	G	G			Missense_Mutation	24739						
TTN	0	broad.mit.edu	GRCh37	2	179579856	179579856	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.25106G>A	p.Gly8369Asp	p.G8369D	ENST00000591111		8369	gGc/gAc	0			1			T	G/D	uc010zfg.1	protein_coding					25106/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(22324-22326)GGC>GAC			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	titin isoform N2-A				ENSP00000465570		88/313									COSM1142217,COSM1649669	88/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179579856C>T	12403			MODERATE		0.765	neutral	getma.org/?cm=msa&ty=f&p=D3DPG0_HUMAN&rb=8326&re=8415&var=G8369D	getma.org/pdb.php?prot=D3DPG0_HUMAN&from=8326&to=8415&var=G8369D	getma.org/?cm=var&var=hg19,2,179579856,C,T&fts=all	G8369D	--	--	1																																		TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G4103D	1,1				p.G7442D	NM_133378	NP_596869			1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		87	22549	-			UPI00025287CD	8369					SNV	TTN,missense_variant,p.Gly8686Asp,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Gly8369Asp,ENST00000591111,;TTN,missense_variant,p.Gly7442Asp,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,intron_variant,,ENST00000342175,NM_133437.3;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,downstream_gene_variant,,ENST00000592630,;TTN-AS1,downstream_gene_variant,,ENST00000431752,;TTN-AS1,downstream_gene_variant,,ENST00000589830,;	uc010zfg.1	c.22325G>A	25331/104301	1	1			c.22325G>A						2	SNP	c.(22324-22326)GGC>GAC	5	5			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179579856		0.443	ENSG00000155657	16485	g.chr2:179579856C>T			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity		p.G7442D(C2BBE1-Tumor)	8722		p.G7442D(C2BBE1-Tumor)	8722	-65.758283	KEEP	3	4	-1	180	150	3	4	-1	10.542695	180	150	0.02027	1	0	0	0	0	1	0	0	0	--	--		0	T			TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G4103D	159	GBM-19-1390-TP	p.G7442D	C	GTACTTCTTGCCGCTCCTAAG	NM_133378	NP_596869	179579856	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		87	22549	-	T	T			Missense_Mutation	8369						
TTN	0	broad.mit.edu	GRCh37	2	179407009	179407009	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.92551G>C	p.Glu30851Gln	p.E30851Q	ENST00000591111		30851	Gag/Cag	0			1			G	E/Q	uc010zfg.1	protein_coding					92551/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(89770-89772)GAG>CAG			PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6	titin isoform N2-A				ENSP00000465570		299/313									COSM3407099,COSM3407098,COSM3407095,COSM3407097,COSM3407096	299/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179407009C>G	12403			MODERATE		1.195	low	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=30759&re=30853&var=E30851Q	getma.org/pdb.php?prot=TITIN_HUMAN&from=30759&to=30853&var=E30851Q	getma.org/?cm=var&var=hg19,2,179407009,C,G&fts=all	E30851Q	--	--	1																																		uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E23619Q|TTN_uc010zfi.1_Missense_Mutation_p.E23552Q|TTN_uc010zfj.1_Missense_Mutation_p.E23427Q	1,1,1,1,1				p.E29924Q	NM_133378	NP_596869			1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		298	89994	-			UPI00025287CD	30851					SNV	TTN,missense_variant,p.Glu32492Gln,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Glu30851Gln,ENST00000591111,;TTN,missense_variant,p.Glu29924Gln,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Glu23619Gln,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Glu23552Gln,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Glu23427Gln,ENST00000460472,NM_003319.4;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000419746,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000590040,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000592689,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000586831,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000590932,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,downstream_gene_variant,,ENST00000589434,;TTN-AS1,downstream_gene_variant,,ENST00000431259,;TTN-AS1,downstream_gene_variant,,ENST00000589391,;TTN-AS1,downstream_gene_variant,,ENST00000591466,;TTN-AS1,downstream_gene_variant,,ENST00000585358,;TTN-AS1,downstream_gene_variant,,ENST00000585487,;TTN-AS1,downstream_gene_variant,,ENST00000592182,;TTN-AS1,downstream_gene_variant,,ENST00000591867,;TTN-AS1,downstream_gene_variant,,ENST00000588244,;TTN-AS1,downstream_gene_variant,,ENST00000450692,;TTN-AS1,downstream_gene_variant,,ENST00000588804,;RP11-65L3.4,downstream_gene_variant,,ENST00000604692,;TTN-AS1,downstream_gene_variant,,ENST00000588716,;TTN-AS1,downstream_gene_variant,,ENST00000592836,;TTN-AS1,downstream_gene_variant,,ENST00000415561,;	uc010zfg.1	c.89770G>C	92776/104301	3	3			c.89770G>C						2	SNP	c.(89770-89772)GAG>CAG	57	57			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179407009		0.463	ENSG00000155657	16485	g.chr2:179407009C>G			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	5.845053	KEEP	2	0	-1	6	2	2	0	-1	6.48388	6	2	0.222222	1	0	0	0	0	1	0	0	0	--	--		0	G			uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E23619Q|TTN_uc010zfi.1_Missense_Mutation_p.E23552Q|TTN_uc010zfj.1_Missense_Mutation_p.E23427Q	160	GBM-19-1790-TP	p.E29924Q	C	CTGCGACACTCTATGACCTCA	NM_133378	NP_596869	179407009	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		298	89994	-	G	G			Missense_Mutation	30851						
TTN	0	broad.mit.edu	GRCh37	2	179634616	179634616	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	rs78680811		TCGA-19-1790-01	TCGA-19-1790-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.8692delA	p.Thr2898LeufsTer18	p.T2898Lfs*18	ENST00000591111		2898	Act/ct	0			1			-	T/X	uc010zfg.1	protein_coding					8692/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(8692-8694)ACTfs			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00409,Superfamily_domains:SSF48726	titin isoform N2-A				ENSP00000465570		37/313										37/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179634616delT	12403			HIGH								--	--	1																																		TTN_uc010zfh.1_Frame_Shift_Del_p.T2852fs|TTN_uc010zfi.1_Frame_Shift_Del_p.T2852fs|TTN_uc010zfj.1_Frame_Shift_Del_p.T2852fs|TTN_uc002unb.2_Frame_Shift_Del_p.T2898fs					p.T2898fs	NM_133378	NP_596869				TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		37	8916	-			UPI00025287CD	2898					deletion	TTN,frameshift_variant,p.Thr2898LeufsTer18,ENST00000589042,NM_001267550.1;TTN,frameshift_variant,p.Thr2898LeufsTer18,ENST00000591111,;TTN,frameshift_variant,p.Thr2898LeufsTer18,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,frameshift_variant,p.Thr2852LeufsTer18,ENST00000342175,NM_133437.3;TTN,frameshift_variant,p.Thr2852LeufsTer18,ENST00000359218,NM_133432.3;TTN,frameshift_variant,p.Thr2852LeufsTer18,ENST00000460472,NM_003319.4;TTN,frameshift_variant,p.Thr2898LeufsTer18,ENST00000360870,NM_133379.4;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000610005,;TTN-AS1,upstream_gene_variant,,ENST00000584485,;	uc010zfg.1	c.8692delA	8917/104301	5	5			c.8692delA						2	DEL	c.(8692-8694)ACTfs	18	18			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179634616		0.368	ENSG00000155657	16485	g.chr2:179634616delT			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722														0.31	1	1	0	1	0	0	0	0	0	--	--		0	-			TTN_uc010zfh.1_Frame_Shift_Del_p.T2852fs|TTN_uc010zfi.1_Frame_Shift_Del_p.T2852fs|TTN_uc010zfj.1_Frame_Shift_Del_p.T2852fs|TTN_uc002unb.2_Frame_Shift_Del_p.T2898fs	160	GBM-19-1790-TP	p.T2898fs	T	AAAGAGGCAGTTTTGGTCTCA	NM_133378	NP_596869	179634616	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		37	8916	-	-	-			Frame_Shift_Del	2898						
TTN	0	broad.mit.edu	GRCh37	2	179442793	179442793	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2624-01	TCGA-19-2624-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.63526C>T	p.Arg21176Ter	p.R21176*	ENST00000591111		21176	Cga/Tga	0	T:0	T:0	1	T:0		A	R/*	uc010zfg.1	protein_coding					63526/103053						likely_pathogenic			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(60745-60747)CGA>TGA			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265	titin isoform N2-A		T:0	T:0.0001	ENSP00000465570	T:0.001	272/313									rs371678190,COSM441687,COSM441686,COSM1134120,COSM441685,COSM441684	272/313	.		ENST00000591111	Transcript	1	T:0.0002			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179442793G>A	12403			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,179442793,G,A&fts=all	R21176*	--	--	1																																		uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.R13944*|TTN_uc010zfi.1_Nonsense_Mutation_p.R13877*|TTN_uc010zfj.1_Nonsense_Mutation_p.R13752*|uc002umv.1_5'Flank	1,1,1,1,1,1				p.R20249*	NM_133378	NP_596869	T:0		0,1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		271	60969	-			UPI00025287CD	21176					SNV	TTN,stop_gained,p.Arg22817Ter,ENST00000589042,NM_001267550.1;TTN,stop_gained,p.Arg21176Ter,ENST00000591111,;TTN,stop_gained,p.Arg20249Ter,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,stop_gained,p.Arg13944Ter,ENST00000342175,NM_133437.3;TTN,stop_gained,p.Arg13877Ter,ENST00000359218,NM_133432.3;TTN,stop_gained,p.Arg13752Ter,ENST00000460472,NM_003319.4;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000438095,;RP11-171I2.2,upstream_gene_variant,,ENST00000603521,;RP11-171I2.5,downstream_gene_variant,,ENST00000604215,;	uc010zfg.1	c.60745C>T	63751/104301	5	2			c.60745C>T						2	SNP	c.(60745-60747)CGA>TGA	45	45			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179442793		0.423	ENSG00000155657	16485	g.chr2:179442793G>A			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity		p.R20249*(SNU685-Tumor)|p.R20249R(SUDHL4-Tumor)	8722		p.R20249*(SNU685-Tumor)|p.R20249R(SUDHL4-Tumor)	8722	-12.091615	KEEP	2	4	-1	52	47	2	4	-1	9.838313	52	47	0.04902	1	0	0	0	0	0	1	0	0	--	--		0	A			uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.R13944*|TTN_uc010zfi.1_Nonsense_Mutation_p.R13877*|TTN_uc010zfj.1_Nonsense_Mutation_p.R13752*|uc002umv.1_5'Flank	164	GBM-19-2624-TP	p.R20249*	G	GCCATAACTCGGAATTCATAT	NM_133378	NP_596869	179442793	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		271	60969	-	A	A			Nonsense_Mutation	21176						
TTN	0	broad.mit.edu	GRCh37	2	179548796	179548796	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5952-01	TCGA-19-5952-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.31785G>A	p.Pro10595=	p.P10595=	ENST00000591111		10595	ccG/ccA	0	A:0		1			T	P	uc010zfg.1	protein_coding					31785/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(29002-29004)CCG>CCA			Pfam_domain:PF02818,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6	titin isoform N2-A			A:0.0001	ENSP00000465570		131/313	2.48E-05					4.51E-05			rs368838709,COSM1591342,COSM1012685	131/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179548796C>T	12403			LOW								--	--	1																																		TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.P6329P|TTN_uc010fre.1_Intron	0,1,1				p.P9668P	NM_133378	NP_596869			0,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		130	29228	-			UPI00025287CD	10595					SNV	TTN,synonymous_variant,p.=,ENST00000589042,NM_001267550.1;TTN,synonymous_variant,p.=,ENST00000591111,;TTN,synonymous_variant,p.=,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,intron_variant,,ENST00000342175,NM_133437.3;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000414766,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;	uc010zfg.1	c.29004G>A	32010/104301	1	1			c.29004G>A						2	SNP	c.(29002-29004)CCG>CCA	11	11			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179548796		0.368	ENSG00000155657	16485	g.chr2:179548796C>T			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	50.223734	KEEP	6	13	-1	25	34	6	13	-1	52.975416	25	34	0.28125	1	0	0	0	0	0	0	1	0	--	--		0	T			TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.P6329P|TTN_uc010fre.1_Intron	172	GBM-19-5952-TP	p.P9668P	C	CAGCTCTCTTCGGTTCCTCTG	NM_133378	NP_596869	179548796	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		130	29228	-	T	T			Silent	10595						
TTN	0	broad.mit.edu	GRCh37	2	179666963	179666963	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01	TCGA-19-5955-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.197C>T	p.Thr66Met	p.T66M	ENST00000591111		66	aCg/aTg	0	A:0		1			A	T/M	uc002und.2	protein_coding					197/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(196-198)ACG>ATG			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.			A:0.0001	ENSP00000465570		3/313	5.77E-05				0.000454	5.99E-05			rs372755739,COSM2709775,COSM2709774,COSM2709771,COSM2709773,COSM2709772,COSM2709776	3/313	common_variant		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179666963G>A	12403			MODERATE		2.08	medium	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=6&re=97&var=T66M	getma.org/pdb.php?prot=TITIN_HUMAN&from=6&to=97&var=T66M	getma.org/?cm=var&var=hg19,2,179666963,G,A&fts=all	T66M	--	--	1																																		TTN_uc010zfg.1_Missense_Mutation_p.T66M|TTN_uc010zfh.1_Missense_Mutation_p.T66M|TTN_uc010zfi.1_Missense_Mutation_p.T66M|TTN_uc010zfj.1_Missense_Mutation_p.T66M|TTN_uc002unb.2_Missense_Mutation_p.T66M	0,1,1,1,1,1,1				p.T66M					0,1,1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		3	422	-			UPI00025287CD	66					SNV	TTN,missense_variant,p.Thr66Met,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Thr66Met,ENST00000591111,;TTN,missense_variant,p.Thr66Met,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Thr66Met,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Thr66Met,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Thr66Met,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Thr66Met,ENST00000360870,NM_133379.4;TTN,downstream_gene_variant,,ENST00000412264,;TTN,non_coding_transcript_exon_variant,,ENST00000470257,;	uc002und.2	c.197C>T	422/104301	2	2			c.197C>T						2	SNP	c.(196-198)ACG>ATG	46	46			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.			179666963		0.547	ENSG00000155657	16485	g.chr2:179666963G>A			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	44.939874	KEEP	5	17	-1	36	49	5	17	-1	52.316023	36	49	0.214286	1	0	0	0	0	1	0	0	0	--	--		0	A			TTN_uc010zfg.1_Missense_Mutation_p.T66M|TTN_uc010zfh.1_Missense_Mutation_p.T66M|TTN_uc010zfi.1_Missense_Mutation_p.T66M|TTN_uc010zfj.1_Missense_Mutation_p.T66M|TTN_uc002unb.2_Missense_Mutation_p.T66M	175	GBM-19-5955-TP	p.T66M	G	GGCGGGGATCGTCAGTTTAGC			179666963	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		3	422	-	A	A			Missense_Mutation	66						
TTN	0	broad.mit.edu	GRCh37	2	179605482	179605482	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-19-5958-01	TCGA-19-5958-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.11527A>T	p.Thr3843Ser	p.T3843S	ENST00000591111		3843	Acc/Tcc	0			1			A	T/S	uc010zfh.1	protein_coding					11527/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(11965-11967)ACC>TCC			hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6	titin isoform novex-2				ENSP00000465570		46/313									COSM3407344,COSM3407343,COSM3407342	46/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179605482T>A	12403			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=D3DPF9_HUMAN&rb=3666&re=3865&var=T3797S	NA	getma.org/?cm=var&var=hg19,2,179605482,T,A&fts=all	T3797S	--	--	1																																		TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.T3922S|TTN_uc010zfj.1_Missense_Mutation_p.T3797S|TTN_uc002umz.1_Intron	1,1,1				p.T3989S	NM_133437	NP_597681			1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		46	12189	-			UPI00025287CD	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					SNV	TTN,missense_variant,p.Thr4160Ser,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Thr3843Ser,ENST00000591111,;TTN,missense_variant,p.Thr3989Ser,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Thr3922Ser,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Thr3797Ser,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,downstream_gene_variant,,ENST00000360870,NM_133379.4;TTN-AS1,intron_variant,,ENST00000582847,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000590773,;TTN-AS1,upstream_gene_variant,,ENST00000578746,;	uc010zfh.1	c.11965A>T	11752/104301	2	2			c.11965A>T						2	SNP	c.(11965-11967)ACC>TCC	32	32			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform novex-2			179605482		0.453	ENSG00000155657	16485	g.chr2:179605482T>A			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	110.956181	KEEP	14	28	-1	56	40	14	28	-1	114.688271	56	40	0.31746	1	0	0	0	0	1	0	0	0	--	--		0	A			TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.T3922S|TTN_uc010zfj.1_Missense_Mutation_p.T3797S|TTN_uc002umz.1_Intron	176	GBM-19-5958-TP	p.T3989S	T	TTGGAGAAGGTTTTCTGGGAC	NM_133437	NP_597681	179605482	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12189	-	A	A			Missense_Mutation	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						
TTN	0	broad.mit.edu	GRCh37	2	179442111	179442111	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.64028C>T	p.Ala21343Val	p.A21343V	ENST00000591111		21343	gCa/gTa	0			1			A	A/V	uc010zfg.1	protein_coding					64028/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(61246-61248)GCA>GTA			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	titin isoform N2-A				ENSP00000465570		274/313									COSM3407184,COSM3407183,COSM3407180,COSM3407182,COSM3407181	274/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179442111G>A	12403			MODERATE		1.295	low	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=21309&re=21396&var=A21343V	getma.org/pdb.php?prot=TITIN_HUMAN&from=21309&to=21396&var=A21343V	getma.org/?cm=var&var=hg19,2,179442111,G,A&fts=all	A21343V	--	--	1																																		uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A14111V|TTN_uc010zfi.1_Missense_Mutation_p.A14044V|TTN_uc010zfj.1_Missense_Mutation_p.A13919V|uc002umv.1_5'Flank	1,1,1,1,1				p.A20416V	NM_133378	NP_596869			1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		273	61471	-			UPI00025287CD	21343					SNV	TTN,missense_variant,p.Ala22984Val,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Ala21343Val,ENST00000591111,;TTN,missense_variant,p.Ala20416Val,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Ala14111Val,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Ala14044Val,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Ala13919Val,ENST00000460472,NM_003319.4;RP11-171I2.5,non_coding_transcript_exon_variant,,ENST00000604215,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000438095,;RP11-171I2.2,upstream_gene_variant,,ENST00000603521,;	uc010zfg.1	c.61247C>T	64253/104301	1	1			c.61247C>T						2	SNP	c.(61246-61248)GCA>GTA	55	55			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179442111		0.403	ENSG00000155657	16485	g.chr2:179442111G>A			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	51.006711	KEEP	16	6	-1	17	19	16	6	-1	52.052939	17	19	0.351852	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A14111V|TTN_uc010zfi.1_Missense_Mutation_p.A14044V|TTN_uc010zfj.1_Missense_Mutation_p.A13919V|uc002umv.1_5'Flank	177	GBM-19-5959-TP	p.A20416V	G	GTCTTTTCCTGCCTTGGACCA	NM_133378	NP_596869	179442111	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		273	61471	-	A	A			Missense_Mutation	21343						
TTN	0	broad.mit.edu	GRCh37	2	179432795	179432795	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5960-01	TCGA-19-5960-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.73141G>A	p.Val24381Ile	p.V24381I	ENST00000591111		24381	Gtc/Atc	0	T:0.0003	T:0.0008	1	T:0		T	V/I	uc010zfg.1	protein_coding					73141/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(70360-70362)GTC>ATC			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265	titin isoform N2-A		T:0	T:0	ENSP00000465570	T:0	276/313	5.79E-05	0.000306	8.71E-05			4.51E-05			rs374764110,COSM1011185,COSM1011184,COSM1591119,COSM1011183,COSM1011181	276/313	.		ENST00000591111	Transcript	1	T:0.0002			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179432795C>T	12403			MODERATE		-0.485	neutral	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=24351&re=24436&var=V24381I	getma.org/pdb.php?prot=TITIN_HUMAN&from=24351&to=24436&var=V24381I	getma.org/?cm=var&var=hg19,2,179432795,C,T&fts=all	V24381I	--	--	1																																		uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V17149I|TTN_uc010zfi.1_Missense_Mutation_p.V17082I|TTN_uc010zfj.1_Missense_Mutation_p.V16957I	0,1,1,1,1,1				p.V23454I	NM_133378	NP_596869	T:0		0,1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		275	70584	-			UPI00025287CD	24381					SNV	TTN,missense_variant,p.Val26022Ile,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Val24381Ile,ENST00000591111,;TTN,missense_variant,p.Val23454Ile,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Val17149Ile,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Val17082Ile,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Val16957Ile,ENST00000460472,NM_003319.4;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000438095,;	uc010zfg.1	c.70360G>A	73366/104301	1	1			c.70360G>A						2	SNP	c.(70360-70362)GTC>ATC	13	13			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179432795		0.443	ENSG00000155657	16485	g.chr2:179432795C>T			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	92.946468	KEEP	12	20	-1	15	15	12	20	-1	92.950081	15	15	0.508475	1	0	0	0	0	1	0	0	0	--	--		0	T			uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V17149I|TTN_uc010zfi.1_Missense_Mutation_p.V17082I|TTN_uc010zfj.1_Missense_Mutation_p.V16957I	178	GBM-19-5960-TP	p.V23454I	C	TAACCTATGACGGGGCTTCCA	NM_133378	NP_596869	179432795	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	70584	-	T	T			Missense_Mutation	24381						
TTN	0	broad.mit.edu	GRCh37	2	179483009	179483009	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-26-6174-01	TCGA-26-6174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.42253G>T	p.Val14085Phe	p.V14085F	ENST00000591111		14085	Gtt/Ttt	0			1			A	V/F	uc010zfg.1	protein_coding					42253/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(39472-39474)GTT>TTT			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265	titin isoform N2-A				ENSP00000465570		202/313									COSM3407275,COSM3407274,COSM3407271,COSM3407273,COSM3407272	202/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179483009C>A	12403			MODERATE		1.715	low	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=14018&re=14103&var=V14085F	getma.org/pdb.php?prot=TITIN_HUMAN&from=14018&to=14103&var=V14085F	getma.org/?cm=var&var=hg19,2,179483009,C,A&fts=all	V14085F	--	--	1																																		TTN_uc010zfh.1_Missense_Mutation_p.V6853F|TTN_uc010zfi.1_Missense_Mutation_p.V6786F|TTN_uc010zfj.1_Missense_Mutation_p.V6661F	1,1,1,1,1				p.V13158F	NM_133378	NP_596869			1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		201	39696	-			UPI00025287CD	14085					SNV	TTN,missense_variant,p.Val15726Phe,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Val14085Phe,ENST00000591111,;TTN,missense_variant,p.Val13158Phe,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Val6853Phe,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Val6786Phe,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Val6661Phe,ENST00000460472,NM_003319.4;RP11-171I2.4,downstream_gene_variant,,ENST00000605334,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,upstream_gene_variant,,ENST00000604956,;TTN-AS1,downstream_gene_variant,,ENST00000589234,;	uc010zfg.1	c.39472G>T	42478/104301	2	2			c.39472G>T						2	SNP	c.(39472-39474)GTT>TTT	44	44			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179483009		0.458	ENSG00000155657	16485	g.chr2:179483009C>A			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	109.271856	KEEP	20	26	0.565217391	83	72	20	26	0.565217391	121.124956	83	72	0.238095	1	0	0	0	0	1	0	0	0	--	--		0	A			TTN_uc010zfh.1_Missense_Mutation_p.V6853F|TTN_uc010zfi.1_Missense_Mutation_p.V6786F|TTN_uc010zfj.1_Missense_Mutation_p.V6661F	188	GBM-26-6174-TP	p.V13158F	C	AGGTACTCAACTCCTCCTTTC	NM_133378	NP_596869	179483009	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		201	39696	-	A	A			Missense_Mutation	14085						
TTN	0	broad.mit.edu	GRCh37	2	179650718	179650718	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01	TCGA-26-6174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.2227G>A	p.Ala743Thr	p.A743T	ENST00000591111		743	Gcc/Acc	0	T:0		1			T	A/T	uc010zfg.1	protein_coding					2227/103053						uncertain_significance			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(2227-2229)GCC>ACC			hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6	titin isoform N2-A			T:0.0001	ENSP00000465570		14/313	8.24E-06					1.50E-05			rs370728359,COSM418981,COSM418980,COSM1133613,COSM418979,COSM418978,COSM418982	14/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179650718C>T	12403			MODERATE		0.46	neutral	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=686&re=885&var=A743T	NA	getma.org/?cm=var&var=hg19,2,179650718,C,T&fts=all	A743T	--	--	1																																		TTN_uc010zfh.1_Missense_Mutation_p.A697T|TTN_uc010zfi.1_Missense_Mutation_p.A697T|TTN_uc010zfj.1_Missense_Mutation_p.A697T|TTN_uc002unb.2_Missense_Mutation_p.A743T|TTN_uc010frg.1_Missense_Mutation_p.A325T	1,1,1,1,1,1,1				p.A743T	NM_133378	NP_596869			0,1,1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		14	2451	-			UPI00025287CD	743					SNV	TTN,missense_variant,p.Ala743Thr,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Ala743Thr,ENST00000591111,;TTN,missense_variant,p.Ala743Thr,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Ala697Thr,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Ala697Thr,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Ala697Thr,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Ala743Thr,ENST00000360870,NM_133379.4;TTN,downstream_gene_variant,,ENST00000436599,;	uc010zfg.1	c.2227G>A	2452/104301	1	1			c.2227G>A						2	SNP	c.(2227-2229)GCC>ACC	2	2			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179650718		0.547	ENSG00000155657	16485	g.chr2:179650718C>T			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity		p.A743T(YD8-Tumor)	8722		p.A743T(YD8-Tumor)	8722	31.424832	KEEP	6	9	-1	27	24	6	9	-1	35.145275	27	24	0.237288	1	0	0	0	0	1	0	0	0	--	--		0	T			TTN_uc010zfh.1_Missense_Mutation_p.A697T|TTN_uc010zfi.1_Missense_Mutation_p.A697T|TTN_uc010zfj.1_Missense_Mutation_p.A697T|TTN_uc002unb.2_Missense_Mutation_p.A743T|TTN_uc010frg.1_Missense_Mutation_p.A325T	188	GBM-26-6174-TP	p.A743T	C	ACCTTTGCGGCGGAAATGCGT	NM_133378	NP_596869	179650718	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		14	2451	-	T	T			Missense_Mutation	743						
TTN	0	broad.mit.edu	GRCh37	2	179462736	179462736	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-27-1830-01	TCGA-27-1830-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.52238A>T	p.Lys17413Met	p.K17413M	ENST00000591111		17413	aAg/aTg	0			1			A	K/M	uc010zfg.1	protein_coding					52238/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(49456-49458)AAG>ATG			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265	titin isoform N2-A				ENSP00000465570		243/313									COSM3407255,COSM3407254,COSM3407251,COSM3407253,COSM3407252	243/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179462736T>A	12403			MODERATE		2.33	medium	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=17349&re=17434&var=K17413M	getma.org/pdb.php?prot=TITIN_HUMAN&from=17349&to=17434&var=K17413M	getma.org/?cm=var&var=hg19,2,179462736,T,A&fts=all	K17413M	--	--	1																																		uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K10181M|TTN_uc010zfi.1_Missense_Mutation_p.K10114M|TTN_uc010zfj.1_Missense_Mutation_p.K9989M	1,1,1,1,1				p.K16486M	NM_133378	NP_596869			1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		242	49681	-			UPI00025287CD	17413					SNV	TTN,missense_variant,p.Lys19054Met,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Lys17413Met,ENST00000591111,;TTN,missense_variant,p.Lys16486Met,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Lys10181Met,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Lys10114Met,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Lys9989Met,ENST00000460472,NM_003319.4;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,upstream_gene_variant,,ENST00000589487,;TTN-AS1,downstream_gene_variant,,ENST00000592689,;TTN-AS1,downstream_gene_variant,,ENST00000590932,;TTN-AS1,downstream_gene_variant,,ENST00000591332,;	uc010zfg.1	c.49457A>T	52463/104301	1	1			c.49457A>T						2	SNP	c.(49456-49458)AAG>ATG	51	51			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179462736		0.383	ENSG00000155657	16485	g.chr2:179462736T>A			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	28.652404	KEEP	22	17	-1	162	162	22	17	-1	78.027629	162	162	0.102236	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K10181M|TTN_uc010zfi.1_Missense_Mutation_p.K10114M|TTN_uc010zfj.1_Missense_Mutation_p.K9989M	189	GBM-27-1830-TP	p.K16486M	T	TGCTCCTTCCTTTAATCCTGT	NM_133378	NP_596869	179462736	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		242	49681	-	A	A			Missense_Mutation	17413						
TTN	0	broad.mit.edu	GRCh37	2	179431526	179431526	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.74410C>T	p.Arg24804Cys	p.R24804C	ENST00000591111		24804	Cgt/Tgt	0			1			A	R/C	uc010zfg.1	protein_coding					74410/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(71629-71631)CGT>TGT			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265	titin isoform N2-A				ENSP00000465570		276/313	1.66E-05					1.50E-05		6.06E-05	rs780658084,COSM3407154,COSM3407153,COSM3407150,COSM3407152,COSM3407151	276/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179431526G>A	12403			MODERATE		2.515	medium	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=24747&re=24832&var=R24804C	getma.org/pdb.php?prot=TITIN_HUMAN&from=24747&to=24832&var=R24804C	getma.org/?cm=var&var=hg19,2,179431526,G,A&fts=all	R24804C	--	--	1																																		uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R17572C|TTN_uc010zfi.1_Missense_Mutation_p.R17505C|TTN_uc010zfj.1_Missense_Mutation_p.R17380C	0,1,1,1,1,1				p.R23877C	NM_133378	NP_596869			0,1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		275	71853	-			UPI00025287CD	24804					SNV	TTN,missense_variant,p.Arg26445Cys,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Arg24804Cys,ENST00000591111,;TTN,missense_variant,p.Arg23877Cys,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Arg17572Cys,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Arg17505Cys,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Arg17380Cys,ENST00000460472,NM_003319.4;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000438095,;	uc010zfg.1	c.71629C>T	74635/104301	1	1			c.71629C>T						2	SNP	c.(71629-71631)CGT>TGT	51	51			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179431526		0.408	ENSG00000155657	16485	g.chr2:179431526G>A			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	-35.278972	KEEP	2	3	-1	106	85	2	3	-1	7.835178	106	85	0.028409	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R17572C|TTN_uc010zfi.1_Missense_Mutation_p.R17505C|TTN_uc010zfj.1_Missense_Mutation_p.R17380C	197	GBM-27-1838-TP	p.R23877C	G	ACTCTTAGACGCAAATCTGTA	NM_133378	NP_596869	179431526	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	71853	-	A	A			Missense_Mutation	24804						
TTN	0	broad.mit.edu	GRCh37	2	179571370	179571370	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01	TCGA-27-2523-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.28280G>A	p.Arg9427His	p.R9427H	ENST00000591111		9427	cGt/cAt	0			1			T	R/H	uc010zfg.1	protein_coding					28280/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(25498-25500)CGT>CAT			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	titin isoform N2-A				ENSP00000465570		100/313									rs760305440,COSM3407320,COSM3407321	100/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179571370C>T	12403			MODERATE		1.745	low	getma.org/?cm=msa&ty=f&p=D3DPG0_HUMAN&rb=9381&re=9471&var=R9427H	getma.org/pdb.php?prot=D3DPG0_HUMAN&from=9381&to=9471&var=R9427H	getma.org/?cm=var&var=hg19,2,179571370,C,T&fts=all	R9427H	--	--	1																																		TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R5161H	0,1,1				p.R8500H	NM_133378	NP_596869			0,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		99	25723	-			UPI00025287CD	9427					SNV	TTN,missense_variant,p.Arg9744His,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Arg9427His,ENST00000591111,;TTN,missense_variant,p.Arg8500His,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,intron_variant,,ENST00000342175,NM_133437.3;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,upstream_gene_variant,,ENST00000414766,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;	uc010zfg.1	c.25499G>A	28505/104301	1	1			c.25499G>A						2	SNP	c.(25498-25500)CGT>CAT	3	3			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179571370		0.443	ENSG00000155657	16485	g.chr2:179571370C>T			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	428.511184	KEEP	67	85	-1	99	80	67	85	-1	428.741282	99	80	0.470395	1	0	0	0	0	1	0	0	0	--	--		0	T			TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R5161H	201	GBM-27-2523-TP	p.R8500H	C	GATGAAAACACGACCTCCTTG	NM_133378	NP_596869	179571370	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		99	25723	-	T	T			Missense_Mutation	9427						
TTN	0	broad.mit.edu	GRCh37	2	179437646	179437646	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.68290G>A	p.Glu22764Lys	p.E22764K	ENST00000591111		22764	Gaa/Aaa	0			1			T	E/K	uc010zfg.1	protein_coding					68290/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(65509-65511)GAA>AAA			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265	titin isoform N2-A				ENSP00000465570		276/313	8.27E-06		8.74E-05						rs764485436,COSM2899481,COSM2899480,COSM2899477,COSM2899479,COSM2899478	276/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179437646C>T	12403			MODERATE		1.075	low	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=22684&re=22770&var=E22764K	getma.org/pdb.php?prot=TITIN_HUMAN&from=22684&to=22770&var=E22764K	getma.org/?cm=var&var=hg19,2,179437646,C,T&fts=all	E22764K	--	--	1																																		uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E15532K|TTN_uc010zfi.1_Missense_Mutation_p.E15465K|TTN_uc010zfj.1_Missense_Mutation_p.E15340K	0,1,1,1,1,1				p.E21837K	NM_133378	NP_596869			0,1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		275	65733	-			UPI00025287CD	22764					SNV	TTN,missense_variant,p.Glu24405Lys,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Glu22764Lys,ENST00000591111,;TTN,missense_variant,p.Glu21837Lys,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Glu15532Lys,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Glu15465Lys,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Glu15340Lys,ENST00000460472,NM_003319.4;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000438095,;RP11-171I2.5,upstream_gene_variant,,ENST00000604215,;	uc010zfg.1	c.65509G>A	68515/104301	2	2			c.65509G>A						2	SNP	c.(65509-65511)GAA>AAA	26	26			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179437646		0.488	ENSG00000155657	16485	g.chr2:179437646C>T			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity		p.E21837K(MEWO-Tumor)	8722		p.E21837K(MEWO-Tumor)	8722	89.62715	KEEP	16	14	-1	29	27	16	14	-1	90.925131	29	27	0.365854	1	0	0	0	0	1	0	0	0	--	--		0	T			uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E15532K|TTN_uc010zfi.1_Missense_Mutation_p.E15465K|TTN_uc010zfj.1_Missense_Mutation_p.E15340K	207	GBM-28-1753-TP	p.E21837K	C	CCAAGTCCTTCGGAATTCATG	NM_133378	NP_596869	179437646	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	65733	-	T	T			Missense_Mutation	22764						
TTN	0	broad.mit.edu	GRCh37	2	179469893	179469893	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-28-2513-01	TCGA-28-2513-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.49088A>C	p.Glu16363Ala	p.E16363A	ENST00000591111		16363	gAa/gCa	0			1			G	E/A	uc010zfg.1	protein_coding					49088/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(46306-46308)GAA>GCA			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	titin isoform N2-A				ENSP00000465570		230/313									COSM3407260,COSM3407259,COSM3407256,COSM3407258,COSM3407257	230/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179469893T>G	12403			MODERATE		0.47	neutral	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=16327&re=16421&var=E16363A	getma.org/pdb.php?prot=TITIN_HUMAN&from=16327&to=16421&var=E16363A	getma.org/?cm=var&var=hg19,2,179469893,T,G&fts=all	E16363A	--	--	1																																		uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E9131A|TTN_uc010zfi.1_Missense_Mutation_p.E9064A|TTN_uc010zfj.1_Missense_Mutation_p.E8939A	1,1,1,1,1				p.E15436A	NM_133378	NP_596869			1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		229	46531	-			UPI00025287CD	16363					SNV	TTN,missense_variant,p.Glu18004Ala,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Glu16363Ala,ENST00000591111,;TTN,missense_variant,p.Glu15436Ala,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Glu9131Ala,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Glu9064Ala,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Glu8939Ala,ENST00000460472,NM_003319.4;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,downstream_gene_variant,,ENST00000586452,;	uc010zfg.1	c.46307A>C	49313/104301	4	4			c.46307A>C						2	SNP	c.(46306-46308)GAA>GCA	18	18			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179469893		0.468	ENSG00000155657	16485	g.chr2:179469893T>G			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	80.23374	KEEP	17	13	-1	51	55	17	13	-1	89.75307	51	55	0.217054	1	0	0	0	0	1	0	0	0	--	--		0	G			uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E9131A|TTN_uc010zfi.1_Missense_Mutation_p.E9064A|TTN_uc010zfj.1_Missense_Mutation_p.E8939A	213	GBM-28-2513-TP	p.E15436A	T	AATTACAGTTTCATTTTTGGA	NM_133378	NP_596869	179469893	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		229	46531	-	G	G			Missense_Mutation	16363						
TTN	0	broad.mit.edu	GRCh37	2	179448473	179448473	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5204-01	TCGA-28-5204-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.60513C>T	p.His20171=	p.H20171=	ENST00000591111		20171	caC/caT	0			1			A	H	uc010zfg.1	protein_coding					60513/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(57730-57732)CAC>CAT			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265	titin isoform N2-A				ENSP00000465570		262/313									COSM3407195,COSM3407194,COSM3407191,COSM3407193,COSM3407192	262/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179448473G>A	12403			LOW								--	--	1																																		uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.H12939H|TTN_uc010zfi.1_Silent_p.H12872H|TTN_uc010zfj.1_Silent_p.H12747H	1,1,1,1,1				p.H19244H	NM_133378	NP_596869			1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		261	57956	-			UPI00025287CD	20171					SNV	TTN,synonymous_variant,p.=,ENST00000589042,NM_001267550.1;TTN,synonymous_variant,p.=,ENST00000591111,;TTN,synonymous_variant,p.=,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,synonymous_variant,p.=,ENST00000342175,NM_133437.3;TTN,synonymous_variant,p.=,ENST00000359218,NM_133432.3;TTN,synonymous_variant,p.=,ENST00000460472,NM_003319.4;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000419746,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000591332,;RP11-171I2.2,downstream_gene_variant,,ENST00000603521,;TTN-AS1,upstream_gene_variant,,ENST00000590743,;TTN-AS1,upstream_gene_variant,,ENST00000589907,;TTN-AS1,downstream_gene_variant,,ENST00000438095,;	uc010zfg.1	c.57732C>T	60738/104301	2	2			c.57732C>T						2	SNP	c.(57730-57732)CAC>CAT	44	44			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179448473		0.463	ENSG00000155657	16485	g.chr2:179448473G>A			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	77.314807	KEEP	21	7	-1	24	10	21	7	-1	77.407452	24	10	0.457627	1	0	0	0	0	0	0	1	0	--	--		0	A			uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.H12939H|TTN_uc010zfi.1_Silent_p.H12872H|TTN_uc010zfj.1_Silent_p.H12747H	215	GBM-28-5204-TP	p.H19244H	G	GGGGAATCTGGTGAGGTGCAG	NM_133378	NP_596869	179448473	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		261	57956	-	A	A			Silent	20171						
TTN	0	broad.mit.edu	GRCh37	2	179631234	179631234	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5209-01	TCGA-28-5209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.9577C>T	p.Arg3193Ter	p.R3193*	ENST00000591111		3193	Cga/Tga	0			1			A	R/*	uc010zfg.1	protein_coding					9577/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(9577-9579)CGA>TGA			Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00409,Superfamily_domains:SSF48726	titin isoform N2-A				ENSP00000465570		41/313	8.24E-06				0.000151				rs746115846,COSM208642,COSM208643,COSM1136524,COSM208640,COSM208644,COSM208641	41/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179631234G>A	12403			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,179631234,G,A&fts=all	R3193*	--	--	1																																		TTN_uc010zfh.1_Nonsense_Mutation_p.R3147*|TTN_uc010zfi.1_Nonsense_Mutation_p.R3147*|TTN_uc010zfj.1_Nonsense_Mutation_p.R3147*|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Nonsense_Mutation_p.R3193*	0,1,1,1,1,1,1				p.R3193*	NM_133378	NP_596869			0,1,1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		41	9801	-			UPI00025287CD	3193					SNV	TTN,stop_gained,p.Arg3193Ter,ENST00000589042,NM_001267550.1;TTN,stop_gained,p.Arg3193Ter,ENST00000591111,;TTN,stop_gained,p.Arg3193Ter,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,stop_gained,p.Arg3147Ter,ENST00000342175,NM_133437.3;TTN,stop_gained,p.Arg3147Ter,ENST00000359218,NM_133432.3;TTN,stop_gained,p.Arg3147Ter,ENST00000460472,NM_003319.4;TTN,stop_gained,p.Arg3193Ter,ENST00000360870,NM_133379.4;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000610005,;TTN-AS1,downstream_gene_variant,,ENST00000578746,;	uc010zfg.1	c.9577C>T	9802/104301	5	2			c.9577C>T						2	SNP	c.(9577-9579)CGA>TGA	18	18			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179631234		0.423	ENSG00000155657	16485	g.chr2:179631234G>A			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	259.462724	KEEP	44	46	-1	61	69	44	46	-1	260.796684	61	69	0.415094	1	0	0	0	0	0	1	0	0	--	--		0	A			TTN_uc010zfh.1_Nonsense_Mutation_p.R3147*|TTN_uc010zfi.1_Nonsense_Mutation_p.R3147*|TTN_uc010zfj.1_Nonsense_Mutation_p.R3147*|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Nonsense_Mutation_p.R3193*	218	GBM-28-5209-TP	p.R3193*	G	TATTTGTGTCGTTCTTGAACT	NM_133378	NP_596869	179631234	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		41	9801	-	A	A			Nonsense_Mutation	3193						
TTN	0	broad.mit.edu	GRCh37	2	179410767	179410767	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-5213-01	TCGA-28-5213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.90273G>A	p.Pro30091=	p.P30091=	ENST00000591111		30091	ccG/ccA	0			1			T	P	uc010zfg.1	protein_coding					90273/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(87490-87492)CCG>CCA			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265	titin isoform N2-A				ENSP00000465570		293/313	3.31E-05	0.000102				4.51E-05			rs752309744,COSM3407104,COSM3407103,COSM3407100,COSM3407102,COSM3407101	293/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179410767C>T	12403			LOW								--	--	1																																		uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.P22859P|TTN_uc010zfi.1_Silent_p.P22792P|TTN_uc010zfj.1_Silent_p.P22667P	0,1,1,1,1,1				p.P29164P	NM_133378	NP_596869			0,1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		292	87716	-			UPI00025287CD	30091					SNV	TTN,synonymous_variant,p.=,ENST00000589042,NM_001267550.1;TTN,synonymous_variant,p.=,ENST00000591111,;TTN,synonymous_variant,p.=,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,synonymous_variant,p.=,ENST00000342175,NM_133437.3;TTN,synonymous_variant,p.=,ENST00000359218,NM_133432.3;TTN,synonymous_variant,p.=,ENST00000460472,NM_003319.4;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000438095,;RP11-65L3.2,upstream_gene_variant,,ENST00000603415,;TTN-AS1,downstream_gene_variant,,ENST00000590040,;RP11-65L3.4,downstream_gene_variant,,ENST00000604692,;	uc010zfg.1	c.87492G>A	90498/104301	2	2			c.87492G>A						2	SNP	c.(87490-87492)CCG>CCA	21	21			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179410767		0.527	ENSG00000155657	16485	g.chr2:179410767C>T			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	64.933226	KEEP	9	20	-1	46	53	9	20	-1	73.877565	46	53	0.222222	1	0	0	0	0	0	0	1	0	--	--		0	T			uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.P22859P|TTN_uc010zfi.1_Silent_p.P22792P|TTN_uc010zfj.1_Silent_p.P22667P	220	GBM-28-5213-TP	p.P29164P	C	CGTCTTCCTGCGGAAGGCTCC	NM_133378	NP_596869	179410767	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		292	87716	-	T	T			Silent	30091						
TTN	0	broad.mit.edu	GRCh37	2	179496000	179496000	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-28-5216-01	TCGA-28-5216-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.38852T>G	p.Leu12951Arg	p.L12951R	ENST00000591111		12951	cTt/cGt	0			1			C	L/R	uc010zfg.1	protein_coding					38852/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(36070-36072)CTT>CGT			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00409,Superfamily_domains:SSF48726	titin isoform N2-A				ENSP00000465570		187/313									COSM3407293,COSM3407292,COSM3407289,COSM3407291,COSM3407290	187/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179496000A>C	12403			MODERATE		3.615	high	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=12945&re=13027&var=L12951R	getma.org/pdb.php?prot=TITIN_HUMAN&from=12945&to=13027&var=L12951R	getma.org/?cm=var&var=hg19,2,179496000,A,C&fts=all	L12951R	--	--	1																																		TTN_uc010zfh.1_Missense_Mutation_p.L5719R|TTN_uc010zfi.1_Missense_Mutation_p.L5652R|TTN_uc010zfj.1_Missense_Mutation_p.L5527R	1,1,1,1,1				p.L12024R	NM_133378	NP_596869			1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		186	36295	-			UPI00025287CD	12951					SNV	TTN,missense_variant,p.Leu14592Arg,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Leu12951Arg,ENST00000591111,;TTN,missense_variant,p.Leu12024Arg,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Leu5719Arg,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Leu5652Arg,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Leu5527Arg,ENST00000460472,NM_003319.4;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000589830,;	uc010zfg.1	c.36071T>G	39077/104301	3	3			c.36071T>G						2	SNP	c.(36070-36072)CTT>CGT	64	64			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179496000		0.348	ENSG00000155657	16485	g.chr2:179496000A>C			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	30.974801	KEEP	9	4	-1	25	14	9	4	-1	33.880163	25	14	0.244898	1	0	0	0	0	1	0	0	0	--	--		0	C			TTN_uc010zfh.1_Missense_Mutation_p.L5719R|TTN_uc010zfi.1_Missense_Mutation_p.L5652R|TTN_uc010zfj.1_Missense_Mutation_p.L5527R	223	GBM-28-5216-TP	p.L12024R	A	ATAATCTTGAAGTTTTCCTGT	NM_133378	NP_596869	179496000	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		186	36295	-	C	C			Missense_Mutation	12951						
TTN	0	broad.mit.edu	GRCh37	2	179466465	179466465	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-28-5219-01	TCGA-28-5219-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.50429G>T	p.Arg16810Leu	p.R16810L	ENST00000591111		16810	cGa/cTa	0			1			A	R/L	uc010zfg.1	protein_coding					50429/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(47647-47649)CGA>CTA			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00409,Superfamily_domains:SSF48726	titin isoform N2-A				ENSP00000465570		236/313									COSM1530034,COSM1530033,COSM1530030,COSM1530032,COSM1530031	236/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179466465C>A	12403			MODERATE		1.435	low	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=16741&re=16835&var=R16810L	getma.org/pdb.php?prot=TITIN_HUMAN&from=16741&to=16835&var=R16810L	getma.org/?cm=var&var=hg19,2,179466465,C,A&fts=all	R16810L	--	--	1																																		uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R9578L|TTN_uc010zfi.1_Missense_Mutation_p.R9511L|TTN_uc010zfj.1_Missense_Mutation_p.R9386L	1,1,1,1,1				p.R15883L	NM_133378	NP_596869			1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		235	47872	-			UPI00025287CD	16810					SNV	TTN,missense_variant,p.Arg18451Leu,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Arg16810Leu,ENST00000591111,;TTN,missense_variant,p.Arg15883Leu,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Arg9578Leu,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Arg9511Leu,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Arg9386Leu,ENST00000460472,NM_003319.4;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,downstream_gene_variant,,ENST00000592689,;TTN-AS1,downstream_gene_variant,,ENST00000590932,;TTN-AS1,downstream_gene_variant,,ENST00000591332,;	uc010zfg.1	c.47648G>T	50654/104301	1	1			c.47648G>T						2	SNP	c.(47647-47649)CGA>CTA	52	52			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179466465		0.363	ENSG00000155657	16485	g.chr2:179466465C>A			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	171.837651	KEEP	31	32	0.507936508	62	76	31	32	0.507936508	177.299837	62	76	0.319149	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R9578L|TTN_uc010zfi.1_Missense_Mutation_p.R9511L|TTN_uc010zfj.1_Missense_Mutation_p.R9386L	225	GBM-28-5219-TP	p.R15883L	C	TGTATGAGATCGTTTACACTC	NM_133378	NP_596869	179466465	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		235	47872	-	A	A			Missense_Mutation	16810						
TTN	0	broad.mit.edu	GRCh37	2	179598493	179598493	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-1970-01	TCGA-32-1970-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.14672T>C	p.Ile4891Thr	p.I4891T	ENST00000591111		4891	aTc/aCc	0			1			G	I/T	uc010zfg.1	protein_coding					14672/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(11890-11892)ATC>ACC			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	titin isoform N2-A				ENSP00000465570		51/313									COSM3407337,COSM3407338	51/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179598493A>G	12403			MODERATE		2.92	medium	getma.org/?cm=msa&ty=f&p=D3DPG0_HUMAN&rb=4851&re=4940&var=I4891T	getma.org/pdb.php?prot=D3DPG0_HUMAN&from=4851&to=4940&var=I4891T	getma.org/?cm=var&var=hg19,2,179598493,A,G&fts=all	I4891T	--	--	1																																		TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I625T	1,1				p.I3964T	NM_133378	NP_596869			1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		50	12115	-			UPI00025287CD	4891					SNV	TTN,missense_variant,p.Ile5208Thr,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Ile4891Thr,ENST00000591111,;TTN,missense_variant,p.Ile3964Thr,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,intron_variant,,ENST00000342175,NM_133437.3;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000582847,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,upstream_gene_variant,,ENST00000590773,;	uc010zfg.1	c.11891T>C	14897/104301	3	3			c.11891T>C						2	SNP	c.(11890-11892)ATC>ACC	63	63			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179598493		0.448	ENSG00000155657	16485	g.chr2:179598493A>G			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	-62.896463	KEEP	5	2	-1	152	173	5	2	-1	11.991201	152	173	0.020619	1	0	0	0	0	1	0	0	0	--	--		0	G			TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I625T	228	GBM-32-1970-TP	p.I3964T	A	GTCTTCTCTGATGACCTCTTG	NM_133378	NP_596869	179598493	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		50	12115	-	G	G			Missense_Mutation	4891						
TTN	0	broad.mit.edu	GRCh37	2	179640164	179640164	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-1980-01	TCGA-32-1980-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.6427G>C	p.Ala2143Pro	p.A2143P	ENST00000591111		2143	Gct/Cct	0			1			G	A/P	uc010zfg.1	protein_coding					6427/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(6427-6429)GCT>CCT			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00409,Superfamily_domains:SSF48726	titin isoform N2-A				ENSP00000465570		28/313									COSM3407359,COSM3407358,COSM3407355,COSM3407357,COSM3407356,COSM3407360	28/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179640164C>G	12403			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=2078&re=2168&var=A2143P	getma.org/pdb.php?prot=TITIN_HUMAN&from=2078&to=2168&var=A2143P	getma.org/?cm=var&var=hg19,2,179640164,C,G&fts=all	A2143P	--	--	1																																		TTN_uc010zfh.1_Missense_Mutation_p.A2097P|TTN_uc010zfi.1_Missense_Mutation_p.A2097P|TTN_uc010zfj.1_Missense_Mutation_p.A2097P|TTN_uc002unb.2_Missense_Mutation_p.A2143P|uc002unc.1_5'Flank	1,1,1,1,1,1				p.A2143P	NM_133378	NP_596869			1,1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		28	6651	-			UPI00025287CD	2143					SNV	TTN,missense_variant,p.Ala2143Pro,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Ala2143Pro,ENST00000591111,;TTN,missense_variant,p.Ala2143Pro,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Ala2097Pro,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Ala2097Pro,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Ala2097Pro,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Ala2143Pro,ENST00000360870,NM_133379.4;RP11-88L24.4,upstream_gene_variant,,ENST00000582038,;TTN-AS1,downstream_gene_variant,,ENST00000585451,;TTN-AS1,downstream_gene_variant,,ENST00000584485,;TTN-AS1,downstream_gene_variant,,ENST00000610005,;	uc010zfg.1	c.6427G>C	6652/104301	4	4			c.6427G>C						2	SNP	c.(6427-6429)GCT>CCT	21	21			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179640164		0.443	ENSG00000155657	16485	g.chr2:179640164C>G			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	5.306127	KEEP	1	2	-1	6	20	1	2	-1	8.847919	6	20	0.12	1	0	0	0	0	1	0	0	0	--	--		0	G			TTN_uc010zfh.1_Missense_Mutation_p.A2097P|TTN_uc010zfi.1_Missense_Mutation_p.A2097P|TTN_uc010zfj.1_Missense_Mutation_p.A2097P|TTN_uc002unb.2_Missense_Mutation_p.A2143P|uc002unc.1_5'Flank	231	GBM-32-1980-TP	p.A2143P	C	GAGTCCTCAGCAGTCACATCT	NM_133378	NP_596869	179640164	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	6651	-	G	G			Missense_Mutation	2143						
TTN	0	broad.mit.edu	GRCh37	2	179457195	179457195	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-32-1982-01	TCGA-32-1982-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.54614A>C	p.Asn18205Thr	p.N18205T	ENST00000591111		18205	aAt/aCt	0			1			G	N/T	uc010zfg.1	protein_coding					54614/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(51832-51834)AAT>ACT			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	titin isoform N2-A				ENSP00000465570		251/313									COSM3407235,COSM3407234,COSM3407231,COSM3407233,COSM3407232	251/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179457195T>G	12403			MODERATE		1.58	low	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=18149&re=18233&var=N18205T	getma.org/pdb.php?prot=TITIN_HUMAN&from=18149&to=18233&var=N18205T	getma.org/?cm=var&var=hg19,2,179457195,T,G&fts=all	N18205T	--	--	1																																		uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N10973T|TTN_uc010zfi.1_Missense_Mutation_p.N10906T|TTN_uc010zfj.1_Missense_Mutation_p.N10781T	1,1,1,1,1				p.N17278T	NM_133378	NP_596869			1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		250	52057	-			UPI00025287CD	18205					SNV	TTN,missense_variant,p.Asn19846Thr,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Asn18205Thr,ENST00000591111,;TTN,missense_variant,p.Asn17278Thr,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Asn10973Thr,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Asn10906Thr,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Asn10781Thr,ENST00000460472,NM_003319.4;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,downstream_gene_variant,,ENST00000590743,;	uc010zfg.1	c.51833A>C	54839/104301	4	4			c.51833A>C						2	SNP	c.(51832-51834)AAT>ACT	26	26			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179457195		0.378	ENSG00000155657	16485	g.chr2:179457195T>G			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	407.596588	KEEP	67	63	-1	174	149	67	63	-1	423.480282	174	149	0.295775	1	0	0	0	0	1	0	0	0	--	--		0	G			uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N10973T|TTN_uc010zfi.1_Missense_Mutation_p.N10906T|TTN_uc010zfj.1_Missense_Mutation_p.N10781T	232	GBM-32-1982-TP	p.N17278T	T	ATGGGCAGCATTACGAATTTC	NM_133378	NP_596869	179457195	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		250	52057	-	G	G			Missense_Mutation	18205						
TTN	0	broad.mit.edu	GRCh37	2	179476881	179476881	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01	TCGA-32-1982-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.45334G>A	p.Gly15112Arg	p.G15112R	ENST00000591111		15112	Gga/Aga	0			1			T	G/R	uc010zfg.1	protein_coding					45334/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(42553-42555)GGA>AGA			Gene3D:2.60.40.10,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265	titin isoform N2-A				ENSP00000465570		217/313									COSM3407270,COSM3407269,COSM3407266,COSM3407268,COSM3407267	217/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179476881C>T	12403			MODERATE		3.07	medium	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=15112&re=15197&var=G15112R	getma.org/pdb.php?prot=TITIN_HUMAN&from=15112&to=15197&var=G15112R	getma.org/?cm=var&var=hg19,2,179476881,C,T&fts=all	G15112R	--	--	1																																		uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G7880R|TTN_uc010zfi.1_Missense_Mutation_p.G7813R|TTN_uc010zfj.1_Missense_Mutation_p.G7688R	1,1,1,1,1				p.G14185R	NM_133378	NP_596869			1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		216	42777	-			UPI00025287CD	15112					SNV	TTN,missense_variant,p.Gly16753Arg,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Gly15112Arg,ENST00000591111,;TTN,missense_variant,p.Gly14185Arg,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Gly7880Arg,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Gly7813Arg,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Gly7688Arg,ENST00000460472,NM_003319.4;RP11-171I2.4,upstream_gene_variant,,ENST00000605334,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000589830,;	uc010zfg.1	c.42553G>A	45559/104301	1	1			c.42553G>A						2	SNP	c.(42553-42555)GGA>AGA	16	16			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179476881		0.428	ENSG00000155657	16485	g.chr2:179476881C>T			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	40.10427	KEEP	7	8	-1	19	16	7	8	-1	41.748232	19	16	0.306122	1	0	0	0	0	1	0	0	0	--	--		0	T			uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G7880R|TTN_uc010zfi.1_Missense_Mutation_p.G7813R|TTN_uc010zfj.1_Missense_Mutation_p.G7688R	232	GBM-32-1982-TP	p.G14185R	C	TAGGGTGGTCCAGGAGTGGCT	NM_133378	NP_596869	179476881	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		216	42777	-	T	T			Missense_Mutation	15112						
TTN	0	broad.mit.edu	GRCh37	2	179453519	179453519	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-2632-01	TCGA-32-2632-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.58010A>G	p.Glu19337Gly	p.E19337G	ENST00000591111		19337	gAa/gGa	0			1			C	E/G	uc010zfg.1	protein_coding					58010/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(55228-55230)GAA>GGA			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265	titin isoform N2-A				ENSP00000465570		254/313									COSM3407210,COSM3407209,COSM3407206,COSM3407208,COSM3407207	254/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179453519T>C	12403			MODERATE		0.67	neutral	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=19324&re=19409&var=E19337G	getma.org/pdb.php?prot=TITIN_HUMAN&from=19324&to=19409&var=E19337G	getma.org/?cm=var&var=hg19,2,179453519,T,C&fts=all	E19337G	--	--	1																																		uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E12105G|TTN_uc010zfi.1_Missense_Mutation_p.E12038G|TTN_uc010zfj.1_Missense_Mutation_p.E11913G	1,1,1,1,1				p.E18410G	NM_133378	NP_596869			1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		253	55453	-			UPI00025287CD	19337					SNV	TTN,missense_variant,p.Glu20978Gly,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Glu19337Gly,ENST00000591111,;TTN,missense_variant,p.Glu18410Gly,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Glu12105Gly,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Glu12038Gly,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Glu11913Gly,ENST00000460472,NM_003319.4;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000590743,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,downstream_gene_variant,,ENST00000586707,;TTN-AS1,downstream_gene_variant,,ENST00000592600,;TTN-AS1,upstream_gene_variant,,ENST00000589234,;TTN-AS1,downstream_gene_variant,,ENST00000586831,;	uc010zfg.1	c.55229A>G	58235/104301	3	3			c.55229A>G						2	SNP	c.(55228-55230)GAA>GGA	63	63			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179453519		0.438	ENSG00000155657	16485	g.chr2:179453519T>C			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	185.118732	KEEP	31	24	-1	39	25	31	24	-1	185.31238	39	25	0.455357	1	0	0	0	0	1	0	0	0	--	--		0	C			uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E12105G|TTN_uc010zfi.1_Missense_Mutation_p.E12038G|TTN_uc010zfj.1_Missense_Mutation_p.E11913G	240	GBM-32-2632-TP	p.E18410G	T	AGTCATCTCTTCTTTGCTTAC	NM_133378	NP_596869	179453519	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		253	55453	-	C	C			Missense_Mutation	19337						
TTN	0	broad.mit.edu	GRCh37	2	179522849	179522849	+	intron_variant	Intron	SNP	T	T	A			TCGA-32-2632-01	TCGA-32-2632-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.34354+583A>T		*11452*	ENST00000591111				0			1			A		uc010zfk.1	protein_coding					-/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(2023-2025)ATT>TTT				SubName: Full=Titin; Flags: Fragment;				ENSP00000465570											COSM3407306		.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179522849T>A	12403			MODIFIER	154/312							--	--	1																																		TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron	1				p.I675F					1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		29	2571	-			UPI00025287CD	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					SNV	TTN,missense_variant,p.Ile12583Phe,ENST00000589042,NM_001267550.1;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,intron_variant,,ENST00000342175,NM_133437.3;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000414766,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000589830,;	uc010zfk.1	c.2023A>T	-/104301	2	2			c.2023A>T						2	SNP	c.(2023-2025)ATT>TTT	27	27			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	SubName: Full=Titin; Flags: Fragment;			179522849		0.413	ENSG00000155657	16485	g.chr2:179522849T>A			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	78.99916	KEEP	24	17	-1	78	54	24	17	-1	84.285123	78	54	0.27027	1	0	0	0	0	1	0	0	0	--	--		0	A			TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron	240	GBM-32-2632-TP	p.I675F	T	GCCACGGGAATTTCTTTTTCT			179522849	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		29	2571	-	A	A			Missense_Mutation	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						
TTN	0	broad.mit.edu	GRCh37	2	179483569	179483569	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-32-4210-01	TCGA-32-4210-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.41785A>T	p.Ile13929Phe	p.I13929F	ENST00000591111		13929	Atc/Ttc	0			1			A	I/F	uc010zfg.1	protein_coding					41785/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(39004-39006)ATC>TTC			Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,Superfamily_domains:SSF48726	titin isoform N2-A				ENSP00000465570		201/313									COSM3407280,COSM3407279,COSM3407276,COSM3407278,COSM3407277	201/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179483569T>A	12403			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=13927&re=14013&var=I13929F	getma.org/pdb.php?prot=TITIN_HUMAN&from=13927&to=14013&var=I13929F	getma.org/?cm=var&var=hg19,2,179483569,T,A&fts=all	I13929F	--	--	1																																		TTN_uc010zfh.1_Missense_Mutation_p.I6697F|TTN_uc010zfi.1_Missense_Mutation_p.I6630F|TTN_uc010zfj.1_Missense_Mutation_p.I6505F	1,1,1,1,1				p.I13002F	NM_133378	NP_596869			1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		200	39228	-			UPI00025287CD	13929					SNV	TTN,missense_variant,p.Ile15570Phe,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Ile13929Phe,ENST00000591111,;TTN,missense_variant,p.Ile13002Phe,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Ile6697Phe,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Ile6630Phe,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Ile6505Phe,ENST00000460472,NM_003319.4;RP11-171I2.4,downstream_gene_variant,,ENST00000605334,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,upstream_gene_variant,,ENST00000604956,;TTN-AS1,downstream_gene_variant,,ENST00000589234,;	uc010zfg.1	c.39004A>T	42010/104301	2	2			c.39004A>T						2	SNP	c.(39004-39006)ATC>TTC	21	21			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179483569		0.408	ENSG00000155657	16485	g.chr2:179483569T>A			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	35.296375	KEEP	10	4	-1	5	11	10	4	-1	35.368937	5	11	0.444444	1	0	0	0	0	1	0	0	0	--	--		0	A			TTN_uc010zfh.1_Missense_Mutation_p.I6697F|TTN_uc010zfi.1_Missense_Mutation_p.I6630F|TTN_uc010zfj.1_Missense_Mutation_p.I6505F	245	GBM-32-4210-TP	p.I13002F	T	GCTGTCTTGATTTTTGGTGCA	NM_133378	NP_596869	179483569	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		200	39228	-	A	A			Missense_Mutation	13929						
TTN	0	broad.mit.edu	GRCh37	2	179485012	179485012	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-4210-01	TCGA-32-4210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.41313C>T	p.Cys13771=	p.C13771=	ENST00000591111		13771	tgC/tgT	0	A:0		1			A	C	uc010zfg.1	protein_coding					41313/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(38530-38532)TGC>TGT			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	titin isoform N2-A			A:0.0001	ENSP00000465570		198/313	8.29E-06					1.56E-05			rs368200299,COSM3407285,COSM3407284,COSM3407281,COSM3407283,COSM3407282	198/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179485012G>A	12403			LOW								--	--	1																																		TTN_uc010zfh.1_Silent_p.C6539C|TTN_uc010zfi.1_Silent_p.C6472C|TTN_uc010zfj.1_Silent_p.C6347C	0,1,1,1,1,1				p.C12844C	NM_133378	NP_596869			0,1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		197	38756	-			UPI00025287CD	13771					SNV	TTN,synonymous_variant,p.=,ENST00000589042,NM_001267550.1;TTN,synonymous_variant,p.=,ENST00000591111,;TTN,synonymous_variant,p.=,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,synonymous_variant,p.=,ENST00000342175,NM_133437.3;TTN,synonymous_variant,p.=,ENST00000359218,NM_133432.3;TTN,synonymous_variant,p.=,ENST00000460472,NM_003319.4;RP11-171I2.4,downstream_gene_variant,,ENST00000605334,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,downstream_gene_variant,,ENST00000456053,;TTN-AS1,downstream_gene_variant,,ENST00000604956,;TTN-AS1,downstream_gene_variant,,ENST00000592750,;	uc010zfg.1	c.38532C>T	41538/104301	2	2			c.38532C>T						2	SNP	c.(38530-38532)TGC>TGT	45	45			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179485012		0.418	ENSG00000155657	16485	g.chr2:179485012G>A			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	-40.584291	KEEP	3	2	-1	106	93	3	2	-1	9.352634	106	93	0.020619	1	0	0	0	0	0	0	1	0	--	--		0	A			TTN_uc010zfh.1_Silent_p.C6539C|TTN_uc010zfi.1_Silent_p.C6472C|TTN_uc010zfj.1_Silent_p.C6347C	245	GBM-32-4210-TP	p.C12844C	G	TGGAGAGCTGGCAGGAGAAGA	NM_133378	NP_596869	179485012	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		197	38756	-	A	A			Silent	13771						
TTN	0	broad.mit.edu	GRCh37	2	179413171	179413171	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01	TCGA-32-4213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.88259G>A	p.Arg29420His	p.R29420H	ENST00000591111		29420	cGt/cAt	0			1			T	R/H	uc010zfg.1	protein_coding					88259/103053						uncertain_significance			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(85477-85479)CGT>CAT			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265	titin isoform N2-A				ENSP00000465570		289/313	2.48E-05	0.000102				3.00E-05			rs727504923,COSM3407119,COSM3407118,COSM3407115,COSM3407117,COSM3407116	289/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179413171C>T	12403			MODERATE		2.225	medium	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=29377&re=29461&var=R29420H	getma.org/pdb.php?prot=TITIN_HUMAN&from=29377&to=29461&var=R29420H	getma.org/?cm=var&var=hg19,2,179413171,C,T&fts=all	R29420H	--	--	1																																		uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R22188H|TTN_uc010zfi.1_Missense_Mutation_p.R22121H|TTN_uc010zfj.1_Missense_Mutation_p.R21996H	1,1,1,1,1,1				p.R28493H	NM_133378	NP_596869			0,1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		288	85702	-			UPI00025287CD	29420					SNV	TTN,missense_variant,p.Arg31061His,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Arg29420His,ENST00000591111,;TTN,missense_variant,p.Arg28493His,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Arg22188His,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Arg22121His,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Arg21996His,ENST00000460472,NM_003319.4;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000438095,;RP11-65L3.2,upstream_gene_variant,,ENST00000603415,;	uc010zfg.1	c.85478G>A	88484/104301	2	2			c.85478G>A						2	SNP	c.(85477-85479)CGT>CAT	35	35			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179413171		0.498	ENSG00000155657	16485	g.chr2:179413171C>T			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	387.297894	KEEP	66	87	-1	140	207	66	87	-1	401.415121	140	207	0.314534	1	0	0	0	0	1	0	0	0	--	--		0	T			uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R22188H|TTN_uc010zfi.1_Missense_Mutation_p.R22121H|TTN_uc010zfj.1_Missense_Mutation_p.R21996H	247	GBM-32-4213-TP	p.R28493H	C	CTGCCAACTACGGCGACTTGC	NM_133378	NP_596869	179413171	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		288	85702	-	T	T			Missense_Mutation	29420						
TTN	0	broad.mit.edu	GRCh37	2	179606204	179606204	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-32-4719-01	TCGA-32-4719-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.10805C>A	p.Thr3602Asn	p.T3602N	ENST00000591111		3602	aCt/aAt	0			1			T	T/N	uc010zfh.1	protein_coding					10805/103053						uncertain_significance			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(11242-11244)ACT>AAT			hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6	titin isoform novex-2				ENSP00000465570		46/313	2.48E-05					4.50E-05			rs727503661,COSM2707564,COSM2707563,COSM2707562	46/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179606204G>T	12403			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=D3DPF9_HUMAN&rb=3517&re=3604&var=T3556N	NA	getma.org/?cm=var&var=hg19,2,179606204,G,T&fts=all	T3556N	--	--	1																																		TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.T3681N|TTN_uc010zfj.1_Missense_Mutation_p.T3556N|TTN_uc002umz.1_Intron	1,1,1,1				p.T3748N	NM_133437	NP_597681			0,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		46	11467	-			UPI00025287CD	3721					SNV	TTN,missense_variant,p.Thr3919Asn,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Thr3602Asn,ENST00000591111,;TTN,missense_variant,p.Thr3748Asn,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Thr3681Asn,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Thr3556Asn,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,downstream_gene_variant,,ENST00000360870,NM_133379.4;TTN-AS1,intron_variant,,ENST00000582847,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000590773,;TTN-AS1,upstream_gene_variant,,ENST00000578746,;	uc010zfh.1	c.11243C>A	11030/104301	1	1			c.11243C>A						2	SNP	c.(11242-11244)ACT>AAT	3	3			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform novex-2			179606204		0.428	ENSG00000155657	16485	g.chr2:179606204G>T			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity		p.T3748N(RS411-Tumor)	8722		p.T3748N(RS411-Tumor)	8722	460.417735	KEEP	71	92	0.435582822	74	131	71	92	0.435582822	462.061224	74	131	0.424699	1	0	0	0	0	1	0	0	0	--	--		0	T			TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.T3681N|TTN_uc010zfj.1_Missense_Mutation_p.T3556N|TTN_uc002umz.1_Intron	248	GBM-32-4719-TP	p.T3748N	G	TTCTGTTTCAGTGTCTTTGTG	NM_133437	NP_597681	179606204	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11467	-	T	T			Missense_Mutation	3721						
TTN	0	broad.mit.edu	GRCh37	2	179610717	179610717	+	intron_variant	Intron	SNP	C	C	T			TCGA-41-3392-01	TCGA-41-3392-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.10361-4069G>A		*3454*	ENST00000591111				0			1			T		uc002unb.2	protein_coding					-/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(16408-16410)ATG>ATA				titin isoform novex-3				ENSP00000465570											COSM3407346		.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179610717C>T	12403			MODIFIER	45/312	-0.805	neutral	getma.org/?cm=msa&ty=f&p=Q8N237_HUMAN&rb=661&re=751&var=M751I	getma.org/pdb.php?prot=Q8N237_HUMAN&from=661&to=751&var=M751I	getma.org/?cm=var&var=hg19,2,179610717,C,T&fts=all	M751I	--	--	1																																		TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	1				p.M5470I	NM_133379	NP_596870			1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		46	16634	-			UPI00025287CD	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					SNV	TTN,missense_variant,p.Met5470Ile,ENST00000360870,NM_133379.4;TTN,intron_variant,,ENST00000589042,NM_001267550.1;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,intron_variant,,ENST00000342175,NM_133437.3;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000578746,;TTN-AS1,intron_variant,,ENST00000590773,;TTN-AS1,downstream_gene_variant,,ENST00000582847,;	uc002unb.2	c.16410G>A	-/104301	1	1			c.16410G>A						2	SNP	c.(16408-16410)ATG>ATA	3	3			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform novex-3			179610717		0.398	ENSG00000155657	16485	g.chr2:179610717C>T			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			8722			8722	-21.404668	KEEP	8	7	-1	147	133	8	7	-1	32.791159	147	133	0.057034	1	0	0	0	0	1	0	0	0	--	--		0	T			TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	254	GBM-41-3392-TP	p.M5470I	C	CAGAATCTCCCATGGTGAGGA	NM_133379	NP_596870	179610717	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	16634	-	T	T			Missense_Mutation	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						
TTN	0	broad.mit.edu	GRCh37	2	179392028	179392028	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01	TCGA-41-4097-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.102764C>T	p.Pro34255Leu	p.P34255L	ENST00000591111		34255	cCg/cTg	0			1			A	P/L	uc010zfg.1	protein_coding					102764/103053									ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(99982-99984)CCG>CTG			Gene3D:2.60.40.10,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6	titin isoform N2-A				ENSP00000465570		313/313	8.28E-06					1.58E-05			rs767565621,COSM1269073,COSM1269072,COSM1269069,COSM1269071,COSM1269070	313/313	.		ENST00000591111	Transcript	1				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179392028G>A	12403			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=34151&re=34255&var=P34255L	NA	getma.org/?cm=var&var=hg19,2,179392028,G,A&fts=all	P34255L	--	--	1																																		uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P27023L|TTN_uc010zfi.1_Missense_Mutation_p.P26956L|TTN_uc010zfj.1_Missense_Mutation_p.P26831L|TTN_uc002umq.2_Missense_Mutation_p.P244L	0,1,1,1,1,1				p.P33328L	NM_133378	NP_596869			0,1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		312	100207	-			UPI00025287CD	34255					SNV	TTN,missense_variant,p.Pro35896Leu,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Pro34255Leu,ENST00000591111,;TTN,missense_variant,p.Pro33328Leu,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Pro27023Leu,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Pro26956Leu,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Pro26831Leu,ENST00000460472,NM_003319.4;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000592161,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000587576,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000589434,;TTN-AS1,intron_variant,,ENST00000431259,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000585625,;TTN-AS1,intron_variant,,ENST00000590040,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000442329,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000585487,;TTN-AS1,intron_variant,,ENST00000588804,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000587568,;TTN-AS1,intron_variant,,ENST00000604571,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,upstream_gene_variant,,ENST00000587944,;TTN-AS1,upstream_gene_variant,,ENST00000586452,;TTN-AS1,upstream_gene_variant,,ENST00000588257,;TTN-AS1,upstream_gene_variant,,ENST00000589391,;TTN-AS1,upstream_gene_variant,,ENST00000592689,;TTN-AS1,upstream_gene_variant,,ENST00000591466,;TTN-AS1,upstream_gene_variant,,ENST00000585358,;TTN-AS1,upstream_gene_variant,,ENST00000592182,;TTN-AS1,upstream_gene_variant,,ENST00000591867,;TTN-AS1,upstream_gene_variant,,ENST00000588244,;TTN-AS1,upstream_gene_variant,,ENST00000590807,;TTN-AS1,upstream_gene_variant,,ENST00000450692,;TTN-AS1,upstream_gene_variant,,ENST00000586831,;TTN-AS1,upstream_gene_variant,,ENST00000589842,;TTN-AS1,upstream_gene_variant,,ENST00000588716,;TTN-AS1,upstream_gene_variant,,ENST00000592836,;TTN-AS1,upstream_gene_variant,,ENST00000589355,;	uc010zfg.1	c.99983C>T	102989/104301	2	2			c.99983C>T						2	SNP	c.(99982-99984)CCG>CTG	32	32			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179392028		0.378	ENSG00000155657	16485	g.chr2:179392028G>A			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity		p.P27023L(HEC6-Tumor)	8722		p.P27023L(HEC6-Tumor)	8722	1.498925	KEEP	2	1	-1	12	25	2	1	-1	7.848678	12	25	0.083333	1	0	0	0	0	1	0	0	0	--	--		0	A			uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P27023L|TTN_uc010zfi.1_Missense_Mutation_p.P26956L|TTN_uc010zfj.1_Missense_Mutation_p.P26831L|TTN_uc002umq.2_Missense_Mutation_p.P244L	257	GBM-41-4097-TP	p.P33328L	G	AATTTTAGGCGGAATTCCTTT	NM_133378	NP_596869	179392028	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		312	100207	-	A	A			Missense_Mutation	34255						
TTN	0	broad.mit.edu	GRCh37	2	179498195	179498195	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-81-5910-01	TCGA-81-5910-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000591111.1:c.37968C>T	p.Gly12656=	p.G12656=	ENST00000591111		12656	ggC/ggT	0		A:0.0008	1	A:0		A	G	uc010zfg.1	protein_coding					37968/103053						likely_benign			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	c.(35185-35187)GGC>GGT			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	titin isoform N2-A		A:0		ENSP00000465570	A:0	182/313	1.66E-05	0.000204							rs550471556,COSM1403122,COSM1403121,COSM1403118,COSM1403120,COSM1403119	182/313	.		ENST00000591111	Transcript	1	A:0.0002			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	ENSG00000155657	g.chr2:179498195G>A	12403			LOW								--	--	1																																		TTN_uc010zfh.1_Silent_p.G5424G|TTN_uc010zfi.1_Silent_p.G5357G|TTN_uc010zfj.1_Silent_p.G5232G	1,1,1,1,1,1				p.G11729G	NM_133378	NP_596869	A:0		0,1,1,1,1,1	TITIN_HUMAN	TTN	HGNC	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		C9JQJ2_HUMAN		181	35411	-			UPI00025287CD	12656					SNV	TTN,synonymous_variant,p.=,ENST00000589042,NM_001267550.1;TTN,synonymous_variant,p.=,ENST00000591111,;TTN,synonymous_variant,p.=,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,synonymous_variant,p.=,ENST00000342175,NM_133437.3;TTN,synonymous_variant,p.=,ENST00000359218,NM_133432.3;TTN,synonymous_variant,p.=,ENST00000460472,NM_003319.4;TTN,downstream_gene_variant,,ENST00000414766,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,upstream_gene_variant,,ENST00000431752,;TTN-AS1,downstream_gene_variant,,ENST00000589907,;TTN-AS1,upstream_gene_variant,,ENST00000418062,;	uc010zfg.1	c.35187C>T	38193/104301	1	1			c.35187C>T						2	SNP	c.(35185-35187)GGC>GGT	64	64			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153	Broad	titin isoform N2-A			179498195		0.428	ENSG00000155657	16485	g.chr2:179498195G>A			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity		p.G11729G(NCIH2110-Tumor)	8722		p.G11729G(NCIH2110-Tumor)	8722	99.165649	KEEP	10	26	-1	7	19	10	26	-1	99.473902	7	19	0.578947	1	0	0	0	0	0	0	1	0	--	--		0	A			TTN_uc010zfh.1_Silent_p.G5424G|TTN_uc010zfi.1_Silent_p.G5357G|TTN_uc010zfj.1_Silent_p.G5232G	289	GBM-81-5910-TP	p.G11729G	G	ACACATATTCGCCTTTATCTT	NM_133378	NP_596869	179498195	Q8WZ42	TITIN_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		181	35411	-	A	A			Silent	12656						
TTN	7273		GRCh37	2	179463526	179463526	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000589042.1:c.56911G>A	p.Val18971Met	p.V18971M	ENST00000589042	NM_001267550.1	18971	Gtg/Atg	0																																																																																																																																																																																																																																												
TTN	7273		GRCh37	2	179599471	179599471	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000589042.1:c.15180C>T	p.Val5060=	p.V5060=	ENST00000589042	NM_001267550.1	5060	gtC/gtT	0																																																																																																																																																																																																																																												
TTN	7273		GRCh37	2	179542438	179542438	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000589042.1:c.34201G>A	p.Glu11401Lys	p.E11401K	ENST00000589042	NM_001267550.1	11401	Gaa/Aaa	0																																																																																																																																																																																																																																												
TTN	7273		GRCh37	2	179639038	179639038	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000589042.1:c.6953G>A	p.Arg2318His	p.R2318H	ENST00000589042	NM_001267550.1	2318	cGt/cAt	0																																																																																																																																																																																																																																												
TTN	7273		GRCh37	2	179633437	179633437	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-28-2510-01	TCGA-28-2510-01																				ENST00000589042.1:c.9126T>C	p.Ala3042=	p.A3042=	ENST00000589042	NM_001267550.1	3042	gcT/gcC	0																																																																																																																																																																																																																																												
TTN	7273		GRCh37	2	179417389	179417389	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000589042.1:c.90238G>A	p.Ala30080Thr	p.A30080T	ENST00000589042	NM_001267550.1	30080	Gct/Act	0																																																																																																																																																																																																																																												
TTN	7273		GRCh37	2	179448529	179448529	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000589042.1:c.65380G>A	p.Val21794Ile	p.V21794I	ENST00000589042	NM_001267550.1	21794	Gta/Ata	0																																																																																																																																																																																																																																												
TTN	7273		GRCh37	2	179515501	179515501	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000589042.1:c.39686G>C	p.Arg13229Thr	p.R13229T	ENST00000589042	NM_001267550.1	13229	aGa/aCa	0																																																																																																																																																																																																																																												
TTN	7273		GRCh37	2	179542390	179542392	+	inframe_deletion	In_Frame_Del	DEL	CTT	CTT	-			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000589042.1:c.34247_34249del	p.Glu11416del	p.E11416del	ENST00000589042	NM_001267550.1	11416	gAAGtc/gtc	0																																																																																																																																																																																																																																												
TTN	7273		GRCh37	2	179458769	179458769	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000589042.1:c.58351C>T	p.Arg19451Cys	p.R19451C	ENST00000589042	NM_001267550.1	19451	Cgt/Tgt	0																																																																																																																																																																																																																																												
TTN	7273		GRCh37	2	179594237	179594237	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000589042.1:c.18646G>A	p.Val6216Met	p.V6216M	ENST00000589042	NM_001267550.1	6216	Gtg/Atg	0																																																																																																																																																																																																																																												
TTN	7273		GRCh37	2	179395245	179395245	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000589042.1:c.106097G>T	p.Gly35366Val	p.G35366V	ENST00000589042	NM_001267550.1	35366	gGa/gTa	0																																																																																																																																																																																																																																												
TTN	7273		GRCh37	2	179485027	179485027	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000589042.1:c.46221C>T	p.Asp15407=	p.D15407=	ENST00000589042	NM_001267550.1	15407	gaC/gaT	0																																																																																																																																																																																																																																												
TTN	7273		GRCh37	2	179496982	179496982	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000589042.1:c.43639G>A	p.Glu14547Lys	p.E14547K	ENST00000589042	NM_001267550.1	14547	Gaa/Aaa	0																																																																																																																																																																																																																																												
TTN	7273		GRCh37	2	179497281	179497281	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000589042.1:c.43452G>A	p.Lys14484=	p.K14484=	ENST00000589042	NM_001267550.1	14484	aaG/aaA	0																																																																																																																																																																																																																																												
TTN	7273		GRCh37	2	179647563	179647563	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000589042.1:c.3070G>A	p.Val1024Ile	p.V1024I	ENST00000589042	NM_001267550.1	1024	Gtc/Atc	0																																																																																																																																																																																																																																												
TTPA	0	broad.mit.edu	GRCh37	8	63985639	63985639	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-12-1597-01	TCGA-12-1597-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260116.4:c.213A>G	p.Lys71=	p.K71=	ENST00000260116	NM_000370.3	71	aaA/aaG	0			1			C	K	uc003xux.1	protein_coding	YES	CCDS6178.1			213/837										0	c.(211-213)AAA>AAG			Gene3D:1.10.8.20,Pfam_domain:PF03765,Prints_domain:PR00180,hmmpanther:PTHR23324,hmmpanther:PTHR23324:SF52,SMART_domains:SM01100,Superfamily_domains:SSF46938	tocopherol (alpha) transfer protein	Vitamin E(DB00163)			ENSP00000260116		5-Feb									COSM3413083	5-Feb	.		ENST00000260116	Transcript	1		lipid metabolic process		transporter activity|vitamin E binding	ENSG00000137561	g.chr8:63985639T>C	12404			LOW								--	--	1																																			1	1			p.K71K	NM_000370	NP_000361			1	TTPA_HUMAN	TTPA	HGNC	P49638	TTPA_HUMAN					2	245	-	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)	UPI00001377AC	71					SNV	TTPA,synonymous_variant,p.=,ENST00000260116,NM_000370.3;TTPA,intron_variant,,ENST00000521138,;	uc003xux.1	c.213A>G	245/2338	3	3			c.213A>G						8	SNP	c.(211-213)AAA>AAG	50	50				0	Broad	tocopherol (alpha) transfer protein		Vitamin E(DB00163)	63985639		0.338	ENSG00000137561	16486	g.chr8:63985639T>C	lipid metabolic process		transporter activity|vitamin E binding							-1.479891	KEEP	4	2	-1	34	48	4	2	-1	14.193355	34	48	0.063291	1	0	0	0	0	0	0	1	0	--	--		0	C				124	GBM-12-1597-TP	p.K71K	T	TATAATAGTTTTTTAGTAACT	NM_000370	NP_000361	63985639	P49638	TTPA_HUMAN	0			2	245	-	C	C	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)	Silent	71						
TTPAL	79183		GRCh37	20	43115268	43115268	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000372904.3:c.672T>C	p.His224=	p.H224=	ENST00000372904	NM_024331.4	224	caT/caC	0																																																																																																																																																																																																																																												
TTPAL	79183		GRCh37	20	43118147	43118147	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000372904.3:c.994C>T	p.Arg332Ter	p.R332*	ENST00000372904	NM_024331.4	332	Cga/Tga	0																																																																																																																																																																																																																																												
TTYH1	0	broad.mit.edu	GRCh37	19	54947301	54947304	+	frameshift_variant	Frame_Shift_Del	DEL	TCTA	TCTA	-			TCGA-12-0619-01	TCGA-12-0619-01	TCTA	TCTA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376530.3:c.1348_1351delATCT	p.Ile450GlufsTer26	p.I450Efs*26	ENST00000376530	NM_001201461.1	449	TCTAtc/tc	0			1			-	SI/X	uc002qfq.2	protein_coding		CCDS12893.1			1345-1348/1353										0	c.(1345-1350)TCTATCfs			hmmpanther:PTHR12424,hmmpanther:PTHR12424:SF5	tweety 1 isoform 1				ENSP00000365713		13/14	8.24E-06			0.000116					rs768973830	13/14	.		ENST00000376530	Transcript			cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity	ENSG00000167614	g.chr19:54947301_54947304delTCTA	13476	3		HIGH								--	--	1																																		TTYH1_uc010yey.1_3'UTR|TTYH1_uc002qfr.2_Frame_Shift_Del_p.R433fs|TTYH1_uc002qft.2_Frame_Shift_Del_p.S450fs					p.S449fs	NM_020659	NP_065710				TTYH1_HUMAN	TTYH1	HGNC	Q9H313	TTYH1_HUMAN		GBM - Glioblastoma multiforme(193;0.0767)			13	1437_1440	+	Ovarian(34;0.19)		UPI0000072B1A	449_450			Cytoplasmic (Potential).		deletion	TTYH1,frameshift_variant,p.Ile451Glu,ENST00000301194,;TTYH1,frameshift_variant,p.Ile450Glu,ENST00000376530,NM_001201461.1,NM_020659.3;TTYH1,frameshift_variant,p.Glu436ProfsTer34,ENST00000376531,NM_001005367.2;TTYH1,3_prime_UTR_variant,,ENST00000391739,;AC008746.12,downstream_gene_variant,,ENST00000599382,;CTD-2587H19.3,downstream_gene_variant,,ENST00000597355,;AC008746.3,upstream_gene_variant,,ENST00000457113,;CTD-2587H19.2,downstream_gene_variant,,ENST00000596631,;TTYH1,non_coding_transcript_exon_variant,,ENST00000489425,;TTYH1,non_coding_transcript_exon_variant,,ENST00000492920,;TTYH1,non_coding_transcript_exon_variant,,ENST00000476863,;TTYH1,non_coding_transcript_exon_variant,,ENST00000467939,;TTYH1,non_coding_transcript_exon_variant,,ENST00000487134,;TTYH1,downstream_gene_variant,,ENST00000472198,;	uc002qfq.2	c.1345_1348delTCTA	1448-1451/1885	5	5			c.1345_1348delTCTA						19	DEL	c.(1345-1350)TCTATCfs	1	1				0	Broad	tweety 1 isoform 1			54947304		0.632	ENSG00000167614	16489	g.chr19:54947301_54947304delTCTA	cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity																				0.37	1	1	0	1	0	0	0	0	0	--	--		0	-			TTYH1_uc010yey.1_3'UTR|TTYH1_uc002qfr.2_Frame_Shift_Del_p.R433fs|TTYH1_uc002qft.2_Frame_Shift_Del_p.S450fs	120	GBM-12-0619-TP	p.S449fs	TCTA	GTGGCAGTCGTCTATCTGAGCCCC	NM_020659	NP_065710	54947301	Q9H313	TTYH1_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0767)	13	1437_1440	+	-	-	Ovarian(34;0.19)		Frame_Shift_Del	449_450			Cytoplasmic (Potential).			
TTYH1	0	broad.mit.edu	GRCh37	19	54930375	54930375	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-12-3652-01	TCGA-12-3652-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376530.3:c.200T>C	p.Ile67Thr	p.I67T	ENST00000376530	NM_001201461.1	67	aTc/aCc	0			1			C	I/T	uc002qfq.2	protein_coding		CCDS12893.1			200/1353										0	c.(199-201)ATC>ACC			Pfam_domain:PF04906,hmmpanther:PTHR12424,hmmpanther:PTHR12424:SF5,Transmembrane_helices:TMhelix	tweety 1 isoform 1				ENSP00000365713		14-Feb									COSM3404595,COSM3404594	14-Feb	.		ENST00000376530	Transcript			cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity	ENSG00000167614	g.chr19:54930375T>C	13476			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=TTYH1_HUMAN&rb=26&re=435&var=I67T	NA	getma.org/?cm=var&var=hg19,19,54930375,T,C&fts=all	I67T	--	--	1																																		TTYH1_uc010yey.1_Missense_Mutation_p.I116T|TTYH1_uc002qfr.2_Missense_Mutation_p.I67T|TTYH1_uc002qft.2_Missense_Mutation_p.I67T|TTYH1_uc002qfu.1_5'UTR	1,1			probably_damaging(0.925)	p.I67T	NM_020659	NP_065710		deleterious(0.04)	1,1	TTYH1_HUMAN	TTYH1	HGNC	Q9H313	TTYH1_HUMAN		GBM - Glioblastoma multiforme(193;0.0767)			2	292	+	Ovarian(34;0.19)		UPI0000072B1A	67			Cytoplasmic (Potential).		SNV	TTYH1,missense_variant,p.Ile67Thr,ENST00000301194,;TTYH1,missense_variant,p.Ile67Thr,ENST00000376530,NM_001201461.1,NM_020659.3;TTYH1,missense_variant,p.Ile67Thr,ENST00000376531,NM_001005367.2;TTYH1,missense_variant,p.Ile116Thr,ENST00000391739,;TTYH1,missense_variant,p.Ile116Thr,ENST00000445095,;TTYH1,missense_variant,p.Ile63Thr,ENST00000423529,;TTYH1,non_coding_transcript_exon_variant,,ENST00000462769,;TTYH1,non_coding_transcript_exon_variant,,ENST00000478036,;TTYH1,non_coding_transcript_exon_variant,,ENST00000462757,;TTYH1,upstream_gene_variant,,ENST00000476757,;TTYH1,upstream_gene_variant,,ENST00000461302,;TTYH1,missense_variant,p.Ile3Thr,ENST00000472198,;TTYH1,missense_variant,p.Ile67Thr,ENST00000425969,;TTYH1,non_coding_transcript_exon_variant,,ENST00000487134,;	uc002qfq.2	c.200T>C	303/1885	4	4			c.200T>C						19	SNP	c.(199-201)ATC>ACC	38	38				0	Broad	tweety 1 isoform 1			54930375		0.682	ENSG00000167614	16489	g.chr19:54930375T>C	cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity							104.724565	KEEP	24	25	-1	62	67	24	25	-1	112.457824	62	67	0.263158	1	0	0	0	0	1	0	0	0	--	--		0	C			TTYH1_uc010yey.1_Missense_Mutation_p.I116T|TTYH1_uc002qfr.2_Missense_Mutation_p.I67T|TTYH1_uc002qft.2_Missense_Mutation_p.I67T|TTYH1_uc002qfu.1_5'UTR	127	GBM-12-3652-TP	p.I67T	T	GTCTACCTCATCCGCTTCTGC	NM_020659	NP_065710	54930375	Q9H313	TTYH1_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0767)	2	292	+	C	C	Ovarian(34;0.19)		Missense_Mutation	67			Cytoplasmic (Potential).			
TTYH3	0	broad.mit.edu	GRCh37	7	2687687	2687687	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-5959-01	TCGA-19-5959-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258796.7:c.721G>T	p.Gly241Trp	p.G241W	ENST00000258796	NM_025250.2	241	Ggg/Tgg	0			1			T	G/W	uc003smp.2	protein_coding	YES	CCDS34588.1			721/1572										0	c.(721-723)GGG>TGG			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR12424,hmmpanther:PTHR12424:SF4,Pfam_domain:PF04906	tweety 3				ENSP00000258796		14-May									COSM3411954,COSM3411955	14-May	.		ENST00000258796	Transcript				chloride channel complex|plasma membrane	chloride channel activity	ENSG00000136295	g.chr7:2687687G>T	22222			MODERATE		2.2	medium	getma.org/?cm=msa&ty=f&p=TTYH3_HUMAN&rb=25&re=430&var=G241W	NA	getma.org/?cm=var&var=hg19,7,2687687,G,T&fts=all	G241W	--	--	1																																		TTYH3_uc010ksn.2_Intron|TTYH3_uc003smq.2_Missense_Mutation_p.G70W	1,1	1		probably_damaging(0.999)	p.G241W	NM_025250	NP_079526		tolerated(0.07)	1,1	TTYH3_HUMAN	TTYH3	HGNC	Q9C0H2	TTYH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)			5	908	+		Ovarian(82;0.0112)	UPI000020E9F9	241			Helical; Name=4; (Potential).		SNV	TTYH3,missense_variant,p.Gly241Trp,ENST00000258796,NM_025250.2;TTYH3,missense_variant,p.Gly70Trp,ENST00000403167,;TTYH3,intron_variant,,ENST00000407643,;TTYH3,downstream_gene_variant,,ENST00000400376,;TTYH3,non_coding_transcript_exon_variant,,ENST00000477439,;TTYH3,upstream_gene_variant,,ENST00000498454,;	uc003smp.2	c.721G>T	926/4840	2	2			c.721G>T						7	SNP	c.(721-723)GGG>TGG	28	28				0	Broad	tweety 3			2687687		0.662	ENSG00000136295	16491	g.chr7:2687687G>T		chloride channel complex|plasma membrane	chloride channel activity							75.6135	KEEP	15	15	0.5	28	35	15	15	0.5	77.770266	28	35	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	T			TTYH3_uc010ksn.2_Intron|TTYH3_uc003smq.2_Missense_Mutation_p.G70W	177	GBM-19-5959-TP	p.G241W	G	CATCCTGGTGGGGTGAGTCTG	NM_025250	NP_079526	2687687	Q9C0H2	TTYH3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)	5	908	+	T	T		Ovarian(82;0.0112)	Missense_Mutation	241			Helical; Name=4; (Potential).			
TUBA1A	0	broad.mit.edu	GRCh37	12	49578914	49578914	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1837-01	TCGA-27-1837-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295766.5:c.1235G>A	p.Gly412Glu	p.G412E	ENST00000295766	NM_001270399.1	412	gGg/gAg	0			1			T	G/E	uc009zlf.2	protein_coding		CCDS58227.1			1235/1356										0	c.(1234-1236)GGG>GAG			Gene3D:1.10.287.600,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF65,Superfamily_domains:SSF55307	tubulin, alpha 1a				ENSP00000439020		4-Apr									COSM3398780	4-Apr	.		ENST00000295766	Transcript	1		'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity	ENSG00000167552	g.chr12:49578914C>T	20766			MODERATE		4.065	high	getma.org/?cm=msa&ty=f&p=TBA1A_HUMAN&rb=394&re=451&var=G412E	getma.org/pdb.php?prot=TBA1A_HUMAN&from=394&to=451&var=G412E	getma.org/?cm=var&var=hg19,12,49578914,C,T&fts=all	G412E	--	--	1																																		TUBA1B_uc001rto.2_Intron|TUBA1A_uc001rtp.2_Missense_Mutation_p.G412E|TUBA1A_uc001rtq.2_Missense_Mutation_p.G259E|TUBA1A_uc001rtr.2_Missense_Mutation_p.G259E|TUBA1A_uc009zlg.2_Missense_Mutation_p.G259E	1			probably_damaging(0.993)	p.G412E	NM_006009	NP_006000		deleterious_low_confidence(0)	1	TBA1A_HUMAN	TUBA1A	HGNC	Q71U36	TBA1A_HUMAN			F8VXZ7_HUMAN,F8VX09_HUMAN,F8VWV9_HUMAN,F8VRZ4_HUMAN,F8VRK0_HUMAN,F8VQQ4_HUMAN		4	1507	-			UPI0000000DB2	412					SNV	TUBA1A,missense_variant,p.Gly412Glu,ENST00000301071,NM_006009.3,NM_001270400.1;TUBA1A,missense_variant,p.Gly412Glu,ENST00000295766,NM_001270399.1;TUBA1A,missense_variant,p.Gly377Glu,ENST00000550767,;TUBA1A,downstream_gene_variant,,ENST00000546918,;TUBA1A,downstream_gene_variant,,ENST00000547939,;TUBA1A,downstream_gene_variant,,ENST00000550811,;TUBA1A,downstream_gene_variant,,ENST00000552924,;TUBA1C,upstream_gene_variant,,ENST00000549554,;TUBA1A,downstream_gene_variant,,ENST00000550254,;TUBA1A,downstream_gene_variant,,ENST00000548363,;	uc009zlf.2	c.1235G>A	1715/1887	1	1			c.1235G>A						12	SNP	c.(1234-1236)GGG>GAG	1	1				0	Broad	tubulin, alpha 1a			49578914		0.547	ENSG00000167552	16493	g.chr12:49578914C>T	'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity	Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)			Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)			243.04462	KEEP	47	56	-1	65	71	47	56	-1	243.575386	65	71	0.445545	1	0	0	0	0	1	0	0	0	--	--		0	T			TUBA1B_uc001rto.2_Intron|TUBA1A_uc001rtp.2_Missense_Mutation_p.G412E|TUBA1A_uc001rtq.2_Missense_Mutation_p.G259E|TUBA1A_uc001rtr.2_Missense_Mutation_p.G259E|TUBA1A_uc009zlg.2_Missense_Mutation_p.G259E	196	GBM-27-1837-TP	p.G412E	C	TTCCTCCATCCCCTCCCCAAC	NM_006009	NP_006000	49578914	Q71U36	TBA1A_HUMAN	0			4	1507	-	T	T			Missense_Mutation	412						
TUBA3C	0	broad.mit.edu	GRCh37	13	19752399	19752399	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01	TCGA-14-1450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400113.3:c.362G>A	p.Arg121Gln	p.R121Q	ENST00000400113	NM_006001.2	121	cGg/cAg	0			1			T	R/Q	uc009zzj.2	protein_coding	YES	CCDS9284.1			362/1353									ovary(3)|skin(2)	5	c.(361-363)CGG>CAG			hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF65,Pfam_domain:PF00091,Gene3D:3.40.50.1440,SMART_domains:SM00864,Superfamily_domains:SSF52490,Prints_domain:PR01161,Prints_domain:PR01162	tubulin, alpha 3c				ENSP00000382982		5-Mar	1.65E-05	9.61E-05	8.64E-05						rs778228340,COSM3399262	5-Mar	.		ENST00000400113	Transcript			'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	ENSG00000198033	g.chr13:19752399C>T	12408			MODERATE								--	--	1																																			0,1	1		benign(0.01)	p.R121Q	NM_006001	NP_005992		tolerated_low_confidence(0.08)	0,1	TBA3C_HUMAN	TUBA3C	HGNC	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	Q1ZYQ1_HUMAN,F8VXZ7_HUMAN		3	411	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	UPI0000027DB1	121					SNV	TUBA3C,missense_variant,p.Arg121Gln,ENST00000400113,NM_006001.2;RP11-408E5.4,upstream_gene_variant,,ENST00000382988,;	uc009zzj.2	c.362G>A	467/1551	2	2			c.362G>A						13	SNP	c.(361-363)CGG>CAG	33	33			ovary(3)|skin(2)	5	Broad	tubulin, alpha 3c			19752399		0.522	ENSG00000198033	16496	g.chr13:19752399C>T	'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity							186.630742	KEEP	37	42	-1	80	86	37	42	-1	191.90098	80	86	0.330097	1	0	0	0	0	1	0	0	0	--	--		0	T				145	GBM-14-1450-TP	p.R121Q	C	TTTGCGGATCCGGTCCAGGAC	NM_006001	NP_005992	19752399	Q13748	TBA3C_HUMAN	0		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	3	411	-	T	T		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	Missense_Mutation	121						
TUBA3C	0	broad.mit.edu	GRCh37	13	19752451	19752451	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs145210942		TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400113.3:c.310G>A	p.Ala104Thr	p.A104T	ENST00000400113	NM_006001.2	104	Gcc/Acc	0	T:0	T:0.0008	1	T:0		T	A/T	uc009zzj.2	protein_coding	YES	CCDS9284.1			310/1353									ovary(3)|skin(2)	5	c.(310-312)GCC>ACC			hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF65,Pfam_domain:PF00091,Gene3D:3.40.50.1440,SMART_domains:SM00864,Superfamily_domains:SSF52490,Prints_domain:PR01161	tubulin, alpha 3c		T:0	T:0.0003	ENSP00000382982	T:0	5-Mar	0.000222	9.61E-05				0.000345		0.000182	rs145210942,COSM1477106	5-Mar	.		ENST00000400113	Transcript		T:0.0002	'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	ENSG00000198033	g.chr13:19752451C>T	12408			MODERATE								--	--	1																																			0,1	1		possibly_damaging(0.516)	p.A104T	NM_006001	NP_005992	T:0	deleterious_low_confidence(0.01)	0,1	TBA3C_HUMAN	TUBA3C	HGNC	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	Q1ZYQ1_HUMAN,F8VXZ7_HUMAN		3	359	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	UPI0000027DB1	104					SNV	TUBA3C,missense_variant,p.Ala104Thr,ENST00000400113,NM_006001.2;RP11-408E5.4,upstream_gene_variant,,ENST00000382988,;	uc009zzj.2	c.310G>A	415/1551	2	2			c.310G>A						13	SNP	c.(310-312)GCC>ACC	42	42			ovary(3)|skin(2)	5	Broad	tubulin, alpha 3c			19752451		0.532	ENSG00000198033	16496	g.chr13:19752451C>T	'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity							313.497749	KEEP	62	53	-1	69	73	62	53	-1	314.20168	69	73	0.442149	1	0	0	0	0	1	0	0	0	--	--		0	T				218	GBM-28-5209-TP	p.A104T	C	TGGCCTCTGGCGTAATTATTG	NM_006001	NP_005992	19752451	Q13748	TBA3C_HUMAN	0		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	3	359	-	T	T		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	Missense_Mutation	104						
TUBA3C	7278		GRCh37	13	19751438	19751438	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000400113.3:c.685C>T	p.Arg229Cys	p.R229C	ENST00000400113	NM_006001.2	229	Cgc/Tgc	0																																																																																																																																																																																																																																												
TUBA3D	113457	broad.mit.edu	GRCh37	2	132238322	132238322	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321253.6:c.1056G>T	p.Lys352Asn	p.K352N	ENST00000321253	NM_080386.3	352	aaG/aaT	0			1			T	K/N	uc002tsu.3	protein_coding	YES	CCDS33290.1			1056/1353										0	c.(1054-1056)AAG>AAT			Gene3D:3.30.1330.20,Pfam_domain:PF03953,Prints_domain:PR01162,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF65,SMART_domains:SM00865,Superfamily_domains:SSF55307	tubulin, alpha 3d				ENSP00000326042		5-Apr									COSM3406872	5-Apr	.		ENST00000321253	Transcript			'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	ENSG00000075886	g.chr2:132238322G>T	24071			MODERATE		4.755	high	getma.org/?cm=msa&ty=f&p=TBA3C_HUMAN&rb=263&re=393&var=K352N	getma.org/pdb.php?prot=TBA3C_HUMAN&from=263&to=393&var=K352N	getma.org/?cm=var&var=hg19,2,132238322,G,T&fts=all	K352N	--	--	1																																			1	1		probably_damaging(1)	p.K352N	NM_080386	NP_525125		deleterious_low_confidence(0)	1	TBA3C_HUMAN	TUBA3D	HGNC	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	Q1ZYQ1_HUMAN,F8VXZ7_HUMAN		4	1163	+			UPI0000027DB1	352					SNV	TUBA3D,missense_variant,p.Lys352Asn,ENST00000321253,NM_080386.3;MZT2A,downstream_gene_variant,,ENST00000309451,NM_001085365.1;TUBA3D,downstream_gene_variant,,ENST00000409047,;MZT2A,downstream_gene_variant,,ENST00000410036,;MZT2A,intron_variant,,ENST00000445782,;MZT2A,intron_variant,,ENST00000427024,;	uc002tsu.3	c.1056G>T	1163/1546	2	2			c.1056G>T						2	SNP	c.(1054-1056)AAG>AAT	29	29				0	Broad	tubulin, alpha 3d			132238322		0.552	ENSG00000075886	16497	g.chr2:132238322G>T	'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	Ovarian(137;2059 2432 35543 39401)			Ovarian(137;2059 2432 35543 39401)			-11.67267	KEEP	2	2	0.5	49	48	2	2	0.5	7.195369	49	48	0.046512	1	0	0	0	0	1	0	0	0	--	--		0	T				102	GBM-06-5858-TP	p.K352N	G	CTGGATTTAAGGTATGACTGG	NM_080386	NP_525125	132238322	Q13748	TBA3C_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.13)	4	1163	+	T	T			Missense_Mutation	352						
TUBA3D	0	broad.mit.edu	GRCh37	2	132237806	132237806	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-16-0861-01	TCGA-16-0861-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321253.6:c.540C>T	p.Ala180=	p.A180=	ENST00000321253	NM_080386.3	180	gcC/gcT	0		T:0	1	T:0		T	A	uc002tsu.3	protein_coding	YES	CCDS33290.1			540/1353										0	c.(538-540)GCC>GCT			Gene3D:3.40.50.1440,Pfam_domain:PF00091,Prints_domain:PR01161,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF65,SMART_domains:SM00864,Superfamily_domains:SSF52490	tubulin, alpha 3d		T:0		ENSP00000326042	T:0	5-Apr	6.59E-05	9.61E-05	8.64E-05			3.00E-05		0.000242	rs544741714,COSM3406871	5-Apr	.		ENST00000321253	Transcript		T:0.0002	'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	ENSG00000075886	g.chr2:132237806C>T	24071			LOW								--	--	1																																			0,1	1			p.A180A	NM_080386	NP_525125	T:0.001		0,1	TBA3C_HUMAN	TUBA3D	HGNC	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	Q1ZYQ1_HUMAN,F8VXZ7_HUMAN		4	647	+			UPI0000027DB1	180					SNV	TUBA3D,synonymous_variant,p.=,ENST00000321253,NM_080386.3;MZT2A,downstream_gene_variant,,ENST00000309451,NM_001085365.1;TUBA3D,non_coding_transcript_exon_variant,,ENST00000409047,;MZT2A,downstream_gene_variant,,ENST00000410036,;MZT2A,intron_variant,,ENST00000445782,;MZT2A,intron_variant,,ENST00000427024,;	uc002tsu.3	c.540C>T	647/1546	2	2			c.540C>T						2	SNP	c.(538-540)GCC>GCT	22	22				0	Broad	tubulin, alpha 3d			132237806		0.547	ENSG00000075886	16497	g.chr2:132237806C>T	'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	Ovarian(137;2059 2432 35543 39401)			Ovarian(137;2059 2432 35543 39401)			267.311968	KEEP	62	60	-1	159	222	62	60	-1	288.156695	159	222	0.255208	1	0	0	0	0	0	0	1	0	--	--		0	T				156	GBM-16-0861-TP	p.A180A	C	TCTCCACAGCCGTGGTGGAGC	NM_080386	NP_525125	132237806	Q13748	TBA3C_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.13)	4	647	+	T	T			Silent	180						
TUBA3D	0	broad.mit.edu	GRCh37	2	132238151	132238151	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5954-01	TCGA-19-5954-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321253.6:c.885C>T	p.Cys295=	p.C295=	ENST00000321253	NM_080386.3	295	tgC/tgT	0			1			T	C	uc002tsu.3	protein_coding	YES	CCDS33290.1			885/1353										0	c.(883-885)TGC>TGT			Gene3D:3.30.1330.20,Pfam_domain:PF03953,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF65,SMART_domains:SM00865,Superfamily_domains:SSF55307	tubulin, alpha 3d				ENSP00000326042		5-Apr									COSM2156711	5-Apr	.		ENST00000321253	Transcript			'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	ENSG00000075886	g.chr2:132238151C>T	24071			LOW								--	--	1																																			1	1			p.C295C	NM_080386	NP_525125			1	TBA3C_HUMAN	TUBA3D	HGNC	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	Q1ZYQ1_HUMAN,F8VXZ7_HUMAN		4	992	+			UPI0000027DB1	295					SNV	TUBA3D,synonymous_variant,p.=,ENST00000321253,NM_080386.3;MZT2A,downstream_gene_variant,,ENST00000309451,NM_001085365.1;TUBA3D,downstream_gene_variant,,ENST00000409047,;MZT2A,downstream_gene_variant,,ENST00000410036,;MZT2A,intron_variant,,ENST00000445782,;MZT2A,intron_variant,,ENST00000427024,;	uc002tsu.3	c.885C>T	992/1546	2	2			c.885C>T						2	SNP	c.(883-885)TGC>TGT	35	35				0	Broad	tubulin, alpha 3d			132238151		0.597	ENSG00000075886	16497	g.chr2:132238151C>T	'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	Ovarian(137;2059 2432 35543 39401)			Ovarian(137;2059 2432 35543 39401)			208.235598	KEEP	47	31	-1	35	34	47	31	-1	208.510381	35	34	0.552632	1	0	0	0	0	0	0	1	0	--	--		0	T				174	GBM-19-5954-TP	p.C295C	C	CCAATGCCTGCTTCGAGCCAG	NM_080386	NP_525125	132238151	Q13748	TBA3C_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.13)	4	992	+	T	T			Silent	295						
TUBA4A	7277	broad.mit.edu	GRCh37	2	220116339	220116339	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-02-0047-01	TCGA-02-0047-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000248437.4:c.323A>G	p.Tyr108Cys	p.Y108C	ENST00000248437	NM_006000.2	108	tAt/tGt	0			1			C	Y/C	uc002vkt.1	protein_coding	YES	CCDS2438.1			323/1347									ovary(3)	3	c.(322-324)TAT>TGT			Gene3D:3.40.50.1440,Pfam_domain:PF00091,Prints_domain:PR01161,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF75,SMART_domains:SM00864,Superfamily_domains:SSF52490	tubulin, alpha 4a				ENSP00000248437		4-Mar									COSM3044803,COSM3044804	4-Mar	.		ENST00000248437	Transcript			'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	ENSG00000127824	g.chr2:220116339T>C	12407			MODERATE		3.905	high	getma.org/?cm=msa&ty=f&p=TBA4A_HUMAN&rb=3&re=226&var=Y108C	getma.org/pdb.php?prot=TBA4A_HUMAN&from=3&to=226&var=Y108C	getma.org/?cm=var&var=hg19,2,220116339,T,C&fts=all	Y108C	0	neutral	1																																		TUBA4A_uc010zkz.1_Missense_Mutation_p.Y93C|TUBA4B_uc002vku.2_5'Flank|TUBA4B_uc002vkv.1_5'Flank	1,1	1		benign(0.262)	p.Y108C	NM_006000	NP_005991		deleterious_low_confidence(0.02)	1,1	TBA4A_HUMAN	TUBA4A	HGNC	P68366	TBA4A_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	C9JQ00_HUMAN,C9JEV8_HUMAN,C9JDS9_HUMAN,A8MUB1_HUMAN		3	381	-		Renal(207;0.0474)	UPI0000004129	108					SNV	TUBA4A,missense_variant,p.Tyr93Cys,ENST00000392088,NM_001278552.1;TUBA4A,missense_variant,p.Tyr108Cys,ENST00000248437,NM_006000.2;TUBA4A,missense_variant,p.Tyr93Cys,ENST00000427737,;TUBA4A,missense_variant,p.Tyr131Cys,ENST00000456818,;TUBA4A,missense_variant,p.Tyr93Cys,ENST00000447205,;TUBA4A,missense_variant,p.Tyr110Cys,ENST00000425551,;TUBA4A,intron_variant,,ENST00000398989,;STK16,downstream_gene_variant,,ENST00000409638,NM_001008910.2;STK16,downstream_gene_variant,,ENST00000396738,;STK16,downstream_gene_variant,,ENST00000409260,;STK16,downstream_gene_variant,,ENST00000409743,;STK16,downstream_gene_variant,,ENST00000409516,;TUBA4A,non_coding_transcript_exon_variant,,ENST00000498660,;TUBA4B,upstream_gene_variant,,ENST00000490341,;TUBA4B,upstream_gene_variant,,ENST00000485041,;TUBA4B,upstream_gene_variant,,ENST00000473885,;STK16,downstream_gene_variant,,ENST00000486813,;TUBA4A,non_coding_transcript_exon_variant,,ENST00000462806,;TUBA4A,non_coding_transcript_exon_variant,,ENST00000475683,;STK16,downstream_gene_variant,,ENST00000496443,;STK16,downstream_gene_variant,,ENST00000478018,;STK16,downstream_gene_variant,,ENST00000475696,;STK16,downstream_gene_variant,,ENST00000496800,;STK16,downstream_gene_variant,,ENST00000475342,;STK16,downstream_gene_variant,,ENST00000461417,;	uc002vkt.1	c.323A>G	497/2162	3	3			c.323A>G						2	SNP	c.(322-324)TAT>TGT	59	59			ovary(3)	3	Broad	tubulin, alpha 4a			220116339		0.532	ENSG00000127824	16499	g.chr2:220116339T>C	'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity							9.8473	KEEP	6	5	-1	55	64	6	5	-1	29.214922	55	64	0.094017	1	0	0	0	0	1	0	0	0	0	neutral		0	C			TUBA4A_uc010zkz.1_Missense_Mutation_p.Y93C|TUBA4B_uc002vku.2_5'Flank|TUBA4B_uc002vkv.1_5'Flank	3	GBM-02-0047-TP	p.Y108C	T	GCCAATGGTATAGTGACCACG	NM_006000	NP_005991	220116339	P68366	TBA4A_HUMAN	0		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	381	-	C	C		Renal(207;0.0474)	Missense_Mutation	108						
TUBB	203068	broad.mit.edu	GRCh37	6	30690337	30690337	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0881-01	TCGA-06-0881-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327892.8:c.81A>G	p.Glu27=	p.E27=	ENST00000327892	NM_178014.2	27	gaA/gaG	0			1			G	E	uc003nrl.2	protein_coding	YES	CCDS4687.1			81/1335									ovary(1)	1	c.(79-81)GAA>GAG			Gene3D:3.40.50.1440,Pfam_domain:PF00091,Prints_domain:PR01161,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF61,Superfamily_domains:SSF52490	tubulin, beta	Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)			ENSP00000339001		4-Feb									COSM3410920	4-Feb	.		ENST00000327892	Transcript	1		cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding	ENSG00000196230	g.chr6:30690337A>G	20778			LOW								--	--	1																																		TUBB_uc003nrk.1_Silent_p.E27E|TUBB_uc011dmq.1_5'UTR	1	1			p.E27E	NM_178014	NP_821133			1	TBB5_HUMAN	TUBB	HGNC	P07437	TBB5_HUMAN			Q9BUU9_HUMAN,Q96B85_HUMAN,Q6P602_HUMAN,Q5SU16_HUMAN,Q5ST81_HUMAN,A4UCU2_HUMAN		2	208	+			UPI0000001229	27					SNV	TUBB,synonymous_variant,p.=,ENST00000396389,;TUBB,synonymous_variant,p.=,ENST00000327892,NM_178014.2;TUBB,synonymous_variant,p.=,ENST00000435534,;TUBB,5_prime_UTR_variant,,ENST00000396384,;TUBB,5_prime_UTR_variant,,ENST00000330914,;MDC1,upstream_gene_variant,,ENST00000376406,NM_014641.2;MDC1,upstream_gene_variant,,ENST00000376405,;XXbac-BPG252P9.9,downstream_gene_variant,,ENST00000607476,;	uc003nrl.2	c.81A>G	387/2670	3	3			c.81A>G						6	SNP	c.(79-81)GAA>GAG	1	1			ovary(1)	1	Broad	tubulin, beta		Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	30690337		0.552	ENSG00000196230	16502	g.chr6:30690337A>G	cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding							0.055684	KEEP	1	3	-1	26	29	1	3	-1	10.919843	26	29	0.070175	1	0	0	0	0	0	0	1	0	--	--		0	G			TUBB_uc003nrk.1_Silent_p.E27E|TUBB_uc011dmq.1_5'UTR	76	GBM-06-0881-TP	p.E27E	A	TCAGTGATGAACATGGCATCG	NM_178014	NP_821133	30690337	P07437	TBB5_HUMAN	0			2	208	+	G	G			Silent	27						
TUBB1	81027	broad.mit.edu	GRCh37	20	57599544	57599544	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2562-01	TCGA-06-2562-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000217133.1:c.1062C>T	p.Cys354=	p.C354=	ENST00000217133	NM_030773.3	354	tgC/tgT	0			1			T	C	uc002yak.2	protein_coding	YES	CCDS13475.1			1062/1356									ovary(1)	1	c.(1060-1062)TGC>TGT			hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF74,Gene3D:3.30.1330.20,Pfam_domain:PF03953,SMART_domains:SM00865,Superfamily_domains:SSF55307,Prints_domain:PR01163	beta tubulin 1, class VI	Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)			ENSP00000217133		4-Apr	4.12E-05		8.65E-05	0.000347				6.06E-05	rs775221566,COSM1412748	4-Apr	.		ENST00000217133	Transcript	1		'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	ENSG00000101162	g.chr20:57599544C>T	16257			LOW								--	--	1																																			0,1	1			p.C354C	NM_030773	NP_110400			0,1	TBB1_HUMAN	TUBB1	HGNC	Q9H4B7	TBB1_HUMAN	Colorectal(105;0.109)				4	1331	+	all_lung(29;0.00711)		UPI0000071B14	354					SNV	TUBB1,synonymous_variant,p.=,ENST00000217133,NM_030773.3;ATP5E,downstream_gene_variant,,ENST00000243997,NM_006886.3;ATP5E,downstream_gene_variant,,ENST00000395659,;ATP5E,downstream_gene_variant,,ENST00000395663,;	uc002yak.2	c.1062C>T	1331/3496	2	2			c.1062C>T						20	SNP	c.(1060-1062)TGC>TGT	21	21			ovary(1)	1	Broad	beta tubulin 1, class VI		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	57599544		0.567	ENSG00000101162	16503	g.chr20:57599544C>T	'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity							70.22691	KEEP	13	18	-1	33	45	13	18	-1	74.331088	33	45	0.28125	1	0	0	0	0	0	0	1	0	--	--		0	T				85	GBM-06-2562-TP	p.C354C	C	TGGCTGTCTGCGACATCCCGC	NM_030773	NP_110400	57599544	Q9H4B7	TBB1_HUMAN	0	Colorectal(105;0.109)		4	1331	+	T	T	all_lung(29;0.00711)		Silent	354						
TUBB4A	10382	broad.mit.edu	GRCh37	19	6502176	6502176	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-0155-01	TCGA-06-0155-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264071.2:c.48C>A	p.Ile16=	p.I16=	ENST00000264071		16	atC/atA	0			1			T	I	uc002mfg.1	protein_coding	YES	CCDS12168.1			48/1335									ovary(2)	2	c.(46-48)ATC>ATA			Gene3D:3.40.50.1440,Pfam_domain:PF00091,Prints_domain:PR01161,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF58,Superfamily_domains:SSF52490	tubulin, beta 4				ENSP00000264071		4-Jan									COSM3404747	4-Jan	.		ENST00000264071	Transcript	1		'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	ENSG00000104833	g.chr19:6502176G>T	20774			LOW								--	--	1																																		TUBB4_uc002mff.1_5'UTR	1	1			p.I16I	NM_006087	NP_006078			1	TBB4A_HUMAN	TUBB4A	HGNC	P04350	TBB4_HUMAN		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)	M0R1I1_HUMAN,M0QY85_HUMAN		1	155	-		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)	UPI000005FC27	16					SNV	TUBB4A,synonymous_variant,p.=,ENST00000264071,;TUBB4A,synonymous_variant,p.=,ENST00000540257,NM_006087.2;TUBB4A,synonymous_variant,p.=,ENST00000597686,;TUBB4A,synonymous_variant,p.=,ENST00000594075,;TUBB4A,synonymous_variant,p.=,ENST00000598006,;TUBB4A,synonymous_variant,p.=,ENST00000598635,;TUBB4A,synonymous_variant,p.=,ENST00000594276,;TUBB4A,synonymous_variant,p.=,ENST00000596926,;TUBB4A,synonymous_variant,p.=,ENST00000601640,;TUBB4A,synonymous_variant,p.=,ENST00000600216,;TUBB4A,intron_variant,,ENST00000601152,;TUBB4A,upstream_gene_variant,,ENST00000596291,;TUBB4A,synonymous_variant,p.=,ENST00000595324,;TUBB4A,synonymous_variant,p.=,ENST00000594290,;	uc002mfg.1	c.48C>A	420/2552	1	1			c.48C>A						19	SNP	c.(46-48)ATC>ATA	11	11			ovary(2)	2	Broad	tubulin, beta 4			6502176		0.547	ENSG00000104833	16508	g.chr19:6502176G>T	'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity							8.622437	KEEP	2	2	0.5	2	5	2	2	0.5	8.843624	2	5	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	T			TUBB4_uc002mff.1_5'UTR	27	GBM-06-0155-TP	p.I16I	G	CCTTGGCCCCGATCTGGTTGC	NM_006087	NP_006078	6502176	P04350	TBB4_HUMAN	0		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)	1	155	-	T	T		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)	Silent	16						
TUBB4A	10382	broad.mit.edu	GRCh37	19	6495886	6495886	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5418-01	TCGA-06-5418-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264071.2:c.624C>T	p.Tyr208=	p.Y208=	ENST00000264071		208	taC/taT	0			1			A	Y	uc002mfg.1	protein_coding	YES	CCDS12168.1			624/1335									ovary(2)	2	c.(622-624)TAC>TAT			Gene3D:3.40.50.1440,Pfam_domain:PF00091,Prints_domain:PR01161,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF58,SMART_domains:SM00864,Superfamily_domains:SSF52490	tubulin, beta 4				ENSP00000264071		4-Apr	0.000156		8.64E-05			1.50E-05		0.00103	rs199666595,COSM2153371	4-Apr	common_variant		ENST00000264071	Transcript	1		'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	ENSG00000104833	g.chr19:6495886G>A	20774			LOW								--	--	1																																		TUBB4_uc002mff.1_Silent_p.Y136Y|MIR220B_hsa-mir-220b|MI0005529_5'Flank	0,1	1			p.Y208Y	NM_006087	NP_006078			0,1	TBB4A_HUMAN	TUBB4A	HGNC	P04350	TBB4_HUMAN		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)	M0R1I1_HUMAN,M0QY85_HUMAN		4	731	-		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)	UPI000005FC27	208					SNV	TUBB4A,synonymous_variant,p.=,ENST00000264071,;TUBB4A,synonymous_variant,p.=,ENST00000540257,NM_006087.2;TUBB4A,synonymous_variant,p.=,ENST00000594075,;TUBB4A,synonymous_variant,p.=,ENST00000594276,;TUBB4A,synonymous_variant,p.=,ENST00000600216,;TUBB4A,downstream_gene_variant,,ENST00000597686,;TUBB4A,downstream_gene_variant,,ENST00000601152,;TUBB4A,downstream_gene_variant,,ENST00000598006,;TUBB4A,downstream_gene_variant,,ENST00000598635,;TUBB4A,downstream_gene_variant,,ENST00000596926,;TUBB4A,downstream_gene_variant,,ENST00000596291,;TUBB4A,downstream_gene_variant,,ENST00000601640,;CTD-2396E7.10,downstream_gene_variant,,ENST00000596027,;CTD-2396E7.9,downstream_gene_variant,,ENST00000599292,;TUBB4A,downstream_gene_variant,,ENST00000595324,;TUBB4A,downstream_gene_variant,,ENST00000594290,;	uc002mfg.1	c.624C>T	996/2552	1	1			c.624C>T						19	SNP	c.(622-624)TAC>TAT	50	50			ovary(2)	2	Broad	tubulin, beta 4			6495886		0.612	ENSG00000104833	16508	g.chr19:6495886G>A	'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity							175.542807	KEEP	39	33	-1	69	75	39	33	-1	180.187352	69	75	0.338308	1	0	0	0	0	0	0	1	0	--	--		0	A			TUBB4_uc002mff.1_Silent_p.Y136Y|MIR220B_hsa-mir-220b|MI0005529_5'Flank	100	GBM-06-5418-TP	p.Y208Y	G	AACAGATGTCGTAGAGTGCCT	NM_006087	NP_006078	6495886	P04350	TBB4_HUMAN	0		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)	4	731	-	A	A		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)	Silent	208						
TUBB4A	0	broad.mit.edu	GRCh37	19	6495656	6495656	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-3653-01	TCGA-12-3653-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264071.2:c.854C>T	p.Thr285Met	p.T285M	ENST00000264071		285	aCg/aTg	0			1			A	T/M	uc002mfg.1	protein_coding	YES	CCDS12168.1			854/1335									ovary(2)	2	c.(853-855)ACG>ATG			Gene3D:3.30.1330.20,Pfam_domain:PF03953,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF58,SMART_domains:SM00865,Superfamily_domains:SSF55307	tubulin, beta 4				ENSP00000264071		4-Apr									COSM2727752	4-Apr	.		ENST00000264071	Transcript	1		'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	ENSG00000104833	g.chr19:6495656G>A	20774			MODERATE		3.37	medium	getma.org/?cm=msa&ty=f&p=TBB4A_HUMAN&rb=201&re=400&var=T285M	getma.org/pdb.php?prot=TBB4A_HUMAN&from=201&to=400&var=T285M	getma.org/?cm=var&var=hg19,19,6495656,G,A&fts=all	T285M	--	--	1																																		TUBB4_uc002mff.1_Missense_Mutation_p.T213M|MIR220B_hsa-mir-220b|MI0005529_5'Flank	1	1		probably_damaging(0.929)	p.T285M	NM_006087	NP_006078		deleterious_low_confidence(0.02)	1	TBB4A_HUMAN	TUBB4A	HGNC	P04350	TBB4_HUMAN		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)	M0R1I1_HUMAN,M0QY85_HUMAN		4	961	-		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)	UPI000005FC27	285					SNV	TUBB4A,missense_variant,p.Thr285Met,ENST00000264071,;TUBB4A,missense_variant,p.Thr285Met,ENST00000540257,NM_006087.2;TUBB4A,downstream_gene_variant,,ENST00000597686,;TUBB4A,downstream_gene_variant,,ENST00000601152,;TUBB4A,downstream_gene_variant,,ENST00000594075,;TUBB4A,downstream_gene_variant,,ENST00000598635,;TUBB4A,downstream_gene_variant,,ENST00000598006,;TUBB4A,downstream_gene_variant,,ENST00000594276,;TUBB4A,downstream_gene_variant,,ENST00000596926,;TUBB4A,downstream_gene_variant,,ENST00000596291,;TUBB4A,downstream_gene_variant,,ENST00000601640,;TUBB4A,downstream_gene_variant,,ENST00000600216,;CTD-2396E7.10,downstream_gene_variant,,ENST00000596027,;CTD-2396E7.9,downstream_gene_variant,,ENST00000599292,;TUBB4A,downstream_gene_variant,,ENST00000595324,;TUBB4A,downstream_gene_variant,,ENST00000594290,;	uc002mfg.1	c.854C>T	1226/2552	2	2			c.854C>T						19	SNP	c.(853-855)ACG>ATG	24	24			ovary(2)	2	Broad	tubulin, beta 4			6495656		0.672	ENSG00000104833	16508	g.chr19:6495656G>A	'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity							143.199005	KEEP	35	31	-1	53	42	35	31	-1	144.69053	53	42	0.386364	1	0	0	0	0	1	0	0	0	--	--		0	A			TUBB4_uc002mff.1_Missense_Mutation_p.T213M|MIR220B_hsa-mir-220b|MI0005529_5'Flank	128	GBM-12-3653-TP	p.T285M	G	CTCGGGCACCGTCAGGGCCCG	NM_006087	NP_006078	6495656	P04350	TBB4_HUMAN	0		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)	4	961	-	A	A		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)	Missense_Mutation	285						
TUBB4A	0	broad.mit.edu	GRCh37	19	6495585	6495585	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-1747-01	TCGA-28-1747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264071.2:c.925C>T	p.Arg309Cys	p.R309C	ENST00000264071		309	Cgc/Tgc	0			1			A	R/C	uc002mfg.1	protein_coding	YES	CCDS12168.1			925/1335									ovary(2)	2	c.(925-927)CGC>TGC			Gene3D:3.30.1330.20,Pfam_domain:PF03953,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF58,SMART_domains:SM00865,Superfamily_domains:SSF55307	tubulin, beta 4				ENSP00000264071		4-Apr									COSM1002957	4-Apr	.		ENST00000264071	Transcript	1		'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	ENSG00000104833	g.chr19:6495585G>A	20774			MODERATE		3.565	high	getma.org/?cm=msa&ty=f&p=TBB4A_HUMAN&rb=201&re=400&var=R309C	getma.org/pdb.php?prot=TBB4A_HUMAN&from=201&to=400&var=R309C	getma.org/?cm=var&var=hg19,19,6495585,G,A&fts=all	R309C	--	--	1																																		TUBB4_uc002mff.1_Missense_Mutation_p.R237C|MIR220B_hsa-mir-220b|MI0005529_5'Flank	1	1		benign(0.358)	p.R309C	NM_006087	NP_006078		deleterious_low_confidence(0.02)	1	TBB4A_HUMAN	TUBB4A	HGNC	P04350	TBB4_HUMAN		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)	M0R1I1_HUMAN,M0QY85_HUMAN		4	1032	-		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)	UPI000005FC27	309					SNV	TUBB4A,missense_variant,p.Arg309Cys,ENST00000264071,;TUBB4A,missense_variant,p.Arg309Cys,ENST00000540257,NM_006087.2;TUBB4A,downstream_gene_variant,,ENST00000597686,;TUBB4A,downstream_gene_variant,,ENST00000601152,;TUBB4A,downstream_gene_variant,,ENST00000594075,;TUBB4A,downstream_gene_variant,,ENST00000598635,;TUBB4A,downstream_gene_variant,,ENST00000598006,;TUBB4A,downstream_gene_variant,,ENST00000594276,;TUBB4A,downstream_gene_variant,,ENST00000596926,;TUBB4A,downstream_gene_variant,,ENST00000596291,;TUBB4A,downstream_gene_variant,,ENST00000601640,;TUBB4A,downstream_gene_variant,,ENST00000600216,;CTD-2396E7.10,downstream_gene_variant,,ENST00000596027,;CTD-2396E7.9,downstream_gene_variant,,ENST00000599292,;TUBB4A,downstream_gene_variant,,ENST00000595324,;TUBB4A,downstream_gene_variant,,ENST00000594290,;	uc002mfg.1	c.925C>T	1297/2552	2	2			c.925C>T						19	SNP	c.(925-927)CGC>TGC	21	21			ovary(2)	2	Broad	tubulin, beta 4			6495585		0.662	ENSG00000104833	16508	g.chr19:6495585G>A	'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity							73.261355	KEEP	34	14	-1	64	34	34	14	-1	77.299103	64	34	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	A			TUBB4_uc002mff.1_Missense_Mutation_p.R237C|MIR220B_hsa-mir-220b|MI0005529_5'Flank	206	GBM-28-1747-TP	p.R309C	G	GTCAGGTAGCGGCCGTGGCGC	NM_006087	NP_006078	6495585	P04350	TBB4_HUMAN	0		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)	4	1032	-	A	A		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)	Missense_Mutation	309						
TUBB4A	10382		GRCh37	19	6495224	6495224	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000264071.2:c.1286C>T	p.Thr429Met	p.T429M	ENST00000264071		429	aCg/aTg	0																																																																																																																																																																																																																																												
TUBB4A	10382		GRCh37	19	6495601	6495601	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000264071.2:c.909C>T	p.Cys303=	p.C303=	ENST00000264071		303	tgC/tgT	0																																																																																																																																																																																																																																												
TUBB4B	10383		GRCh37	9	140137057	140137057	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000340384.4:c.387C>T	p.Cys129=	p.C129=	ENST00000340384	NM_006088.5	129	tgC/tgT	0																																																																																																																																																																																																																																												
TUBB7P	56604	broad.mit.edu	GRCh37	4	190904151	190904152	+	non_coding_transcript_exon_variant	RNA	INS	-	-	G			TCGA-06-0174-01	TCGA-06-0174-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428444.2:n.831dup		p.*277*	ENST00000428444				0			1			G		uc011clg.1	unprocessed_pseudogene	YES														0	c.(826-831)GGCAGCfs				tubulin, beta polypeptide 4, member Q						4-Apr									TMP_ESP_4_190904152_190904151	4-Apr	.		ENST00000428444	Transcript			'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	ENSG00000251297	g.chr4:190904151_190904152insG	12413			MODIFIER								--	--	1																																				1			p.G276fs	NM_020040	NP_064424					TUBB7P	HGNC	Q99867	TBB4Q_HUMAN		all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)			4	831_832	-		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		277_278					insertion	TUBB7P,non_coding_transcript_exon_variant,,ENST00000428444,;AF146191.8,downstream_gene_variant,,ENST00000604941,;	uc011clg.1	c.828_829insC	831-832/1305	5	5			c.828_829insC						4	INS	c.(826-831)GGCAGCfs	25	25				0	Broad	tubulin, beta polypeptide 4, member Q			190904152		0.614	ENSG00000251297	16509	g.chr4:190904151_190904152insG	'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity																				0.31	1	0	0	1	1	0	0	0	0	--	--		0	G				37	GBM-06-0174-TP	p.G276fs	-	TACTGCTGGCTGCCCCGGCTGG	NM_020040	NP_064424	190904151	Q99867	TBB4Q_HUMAN	0		all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)	4	831_832	-	G	G		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	Frame_Shift_Ins	277_278						
TUBB7P	0	broad.mit.edu	GRCh37	4	190904404	190904404	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C			TCGA-26-5139-01	TCGA-26-5139-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428444.2:n.579A>G		*193*	ENST00000428444				0			1			C		uc011clg.1	unprocessed_pseudogene	YES														0	c.(574-576)ATA>ATG				tubulin, beta polypeptide 4, member Q						4-Apr									COSM3409220	4-Apr	.		ENST00000428444	Transcript			'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	ENSG00000251297	g.chr4:190904404T>C	12413			MODIFIER								--	--	1																																			1	1			p.I192M	NM_020040	NP_064424			1		TUBB7P	HGNC	Q99867	TBB4Q_HUMAN		all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)			4	579	-		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		193					SNV	TUBB7P,non_coding_transcript_exon_variant,,ENST00000428444,;AF146191.8,downstream_gene_variant,,ENST00000604941,;	uc011clg.1	c.576A>G	579/1305	3	3			c.576A>G						4	SNP	c.(574-576)ATA>ATG	4	4				0	Broad	tubulin, beta polypeptide 4, member Q			190904404		0.507	ENSG00000251297	16509	g.chr4:190904404T>C	'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity							-31.895991	KEEP	3	0	-1	138	119	3	0	-1	6.55701	138	119	0.020134	1	0	0	0	0	1	0	0	0	--	--		0	C				186	GBM-26-5139-TP	p.I192M	T	CTGCGTTTTCTATGAGCTGGT	NM_020040	NP_064424	190904404	Q99867	TBB4Q_HUMAN	0		all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)	4	579	-	C	C		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	Missense_Mutation	193						
TUBB7P	0	broad.mit.edu	GRCh37	4	190903815	190903815	+	non_coding_transcript_exon_variant,non_coding_transcript_variant	RNA	SNP	G	G	A	rs17799221		TCGA-28-2513-01	TCGA-28-2513-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000428444.2:n.1168C>T		*390*	ENST00000428444				0			1			A		uc011clg.1	unprocessed_pseudogene	YES														0	c.(1165-1167)CGC>TGC				tubulin, beta polypeptide 4, member Q						4-Apr	2.47E-05	0.000194						6.06E-05	rs17799221,COSM3409219	4-Apr	.		ENST00000428444	Transcript			'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	ENSG00000251297	g.chr4:190903815G>A	12413			MODIFIER								--	--	1																																			0,1	1			p.R389C	NM_020040	NP_064424			0,1		TUBB7P	HGNC	Q99867	TBB4Q_HUMAN		all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)			4	1168	-		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		390					SNV	TUBB7P,non_coding_transcript_exon_variant,,ENST00000428444,;AF146191.8,downstream_gene_variant,,ENST00000604941,;	uc011clg.1	c.1165C>T	1168/1305	2	2			c.1165C>T						4	SNP	c.(1165-1167)CGC>TGC	35	35				0	Broad	tubulin, beta polypeptide 4, member Q			190903815		0.547	ENSG00000251297	16509	g.chr4:190903815G>A	'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity							42.413766	KEEP	17	18	-1	119	125	17	18	-1	75.796268	119	125	0.130952	1	0	0	0	0	1	0	0	0	--	--		0	A				213	GBM-28-2513-TP	p.R389C	G	AAGGCCTTGCGCCTGAACGTT	NM_020040	NP_064424	190903815	Q99867	TBB4Q_HUMAN	0		all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)	4	1168	-	A	A		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	Missense_Mutation	390						
TUBB8P7	197331		GRCh37	16	90161618	90161618	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000564451.1:n.971C>T		p.*324*	ENST00000564451				0																																																																																																																																																																																																																																												
TUBB8P7	197331		GRCh37	16	90160836	90160836	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000564451.1:n.787C>T		p.*263*	ENST00000564451				0																																																																																																																																																																																																																																												
TUBB8P7	197331		GRCh37	16	90161578	90161578	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000564451.1:n.931G>A		p.*311*	ENST00000564451				0																																																																																																																																																																																																																																												
TUBBP5	643224		GRCh37	9	141070969	141070969	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000508529.2:n.587A>G		p.*196*	ENST00000508529				0																																																																																																																																																																																																																																												
TUBBP5	643224		GRCh37	9	141070064	141070064	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000508529.2:n.177G>A		p.*59*	ENST00000508529				0																																																																																																																																																																																																																																												
TUBG1	7283		GRCh37	17	40766362	40766362	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000251413.3:c.928G>C	p.Asp310His	p.D310H	ENST00000251413	NM_001070.4	310	Gac/Cac	0																																																																																																																																																																																																																																												
TUBG2	0	broad.mit.edu	GRCh37	17	40817702	40817702	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-0871-01	TCGA-14-0871-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251412.7:c.700A>G	p.Thr234Ala	p.T234A	ENST00000251412	NM_016437.2	234	Acc/Gcc	0			1			G	T/A	uc010wgr.1	protein_coding	YES	CCDS32658.1			700/1356									ovary(1)	1	c.(700-702)ACC>GCC			hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF79,Gene3D:3.40.50.1440,SMART_domains:SM00864,Superfamily_domains:SSF52490	tubulin, gamma 2				ENSP00000251412		11-Aug									COSM3402909	11-Aug	.		ENST00000251412	Transcript			G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity	ENSG00000037042	g.chr17:40817702A>G	12419			MODERATE		1.53	low	getma.org/?cm=msa&ty=f&p=TBG2_HUMAN&rb=228&re=263&var=T234A	getma.org/pdb.php?prot=TBG2_HUMAN&from=228&to=263&var=T234A	getma.org/?cm=var&var=hg19,17,40817702,A,G&fts=all	T234A	--	--	1																																		TUBG2_uc002iaq.2_Missense_Mutation_p.T76A|TUBG2_uc002iar.2_Missense_Mutation_p.T81A|TUBG2_uc002ias.2_Missense_Mutation_p.T76A|TUBG2_uc002iap.2_Missense_Mutation_p.T81A	1	1		benign(0.012)	p.T234A	NM_016437	NP_057521		tolerated(0.09)	1	TBG2_HUMAN	TUBG2	HGNC	Q9NRH3	TBG2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.141)			8	956	+		Breast(137;0.00116)	UPI0000136A5C	234					SNV	TUBG2,missense_variant,p.Thr234Ala,ENST00000251412,NM_016437.2;PLEKHH3,downstream_gene_variant,,ENST00000293349,;PLEKHH3,downstream_gene_variant,,ENST00000591022,NM_024927.4;PLEKHH3,downstream_gene_variant,,ENST00000412503,;PLEKHH3,downstream_gene_variant,,ENST00000456950,;TUBG2,non_coding_transcript_exon_variant,,ENST00000588870,;PLEKHH3,downstream_gene_variant,,ENST00000591490,;PLEKHH3,downstream_gene_variant,,ENST00000591196,;TUBG2,downstream_gene_variant,,ENST00000590396,;PLEKHH3,downstream_gene_variant,,ENST00000591476,;	uc010wgr.1	c.700A>G	899/1761	3	3			c.700A>G						17	SNP	c.(700-702)ACC>GCC	49	49			ovary(1)	1	Broad	tubulin, gamma 2			40817702		0.637	ENSG00000037042	16515	g.chr17:40817702A>G	G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity							56.347937	KEEP	11	19	-1	50	61	11	19	-1	66.251311	50	61	0.210937	1	0	0	0	0	1	0	0	0	--	--		0	G			TUBG2_uc002iaq.2_Missense_Mutation_p.T76A|TUBG2_uc002iar.2_Missense_Mutation_p.T81A|TUBG2_uc002ias.2_Missense_Mutation_p.T76A|TUBG2_uc002iap.2_Missense_Mutation_p.T81A	141	GBM-14-0871-TP	p.T234A	A	CCAGGTGTCCACCATCATGTC	NM_016437	NP_057521	40817702	Q9NRH3	TBG2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(366;0.141)	8	956	+	G	G		Breast(137;0.00116)	Missense_Mutation	234						
TUBGCP3	0	broad.mit.edu	GRCh37	13	113181294	113181294	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-19-1790-01	TCGA-19-1790-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261965.3:c.1517T>A	p.Met506Lys	p.M506K	ENST00000261965	NM_006322.4	506	aTg/aAg	0			1			T	M/K	uc001vse.1	protein_coding	YES	CCDS9525.1			1517/2724									central_nervous_system(1)	1	c.(1516-1518)ATG>AAG			Pfam_domain:PF04130,hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF14	tubulin, gamma complex associated protein 3				ENSP00000261965		13/22									COSM2156075	13/22	.		ENST00000261965	Transcript			G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	ENSG00000126216	g.chr13:113181294A>T	18598			MODERATE		-0.895	neutral	getma.org/?cm=msa&ty=f&p=GCP3_HUMAN&rb=253&re=763&var=M506K	getma.org/pdb.php?prot=GCP3_HUMAN&from=253&to=763&var=M506K	getma.org/?cm=var&var=hg19,13,113181294,A,T&fts=all	M506K	--	--	1																																		TUBGCP3_uc010tjq.1_Missense_Mutation_p.M496K|TUBGCP3_uc001vsf.2_Missense_Mutation_p.M506K	1	1		benign(0)	p.M506K	NM_006322	NP_006313		tolerated(0.29)	1	GCP3_HUMAN	TUBGCP3	HGNC	Q96CW5	GCP3_HUMAN					13	1704	-	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		UPI000000DB88	506					SNV	TUBGCP3,missense_variant,p.Met506Lys,ENST00000261965,NM_006322.4;TUBGCP3,missense_variant,p.Met506Lys,ENST00000375669,NM_001286278.1;TUBGCP3,non_coding_transcript_exon_variant,,ENST00000462580,;	uc001vse.1	c.1517T>A	1704/3893	2	2			c.1517T>A						13	SNP	c.(1516-1518)ATG>AAG	47	47			central_nervous_system(1)	1	Broad	tubulin, gamma complex associated protein 3			113181294		0.318	ENSG00000126216	16517	g.chr13:113181294A>T	G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton							128.128395	KEEP	23	33	-1	62	90	23	33	-1	136.573423	62	90	0.263473	1	0	0	0	0	1	0	0	0	--	--		0	T			TUBGCP3_uc010tjq.1_Missense_Mutation_p.M496K|TUBGCP3_uc001vsf.2_Missense_Mutation_p.M506K	160	GBM-19-1790-TP	p.M506K	A	CACAGCTATCATCTTTGTAGT	NM_006322	NP_006313	113181294	Q96CW5	GCP3_HUMAN	0			13	1704	-	T	T	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		Missense_Mutation	506						
TUBGCP3	10426		GRCh37	13	113176787	113176787	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000261965.3:c.1592A>G	p.Gln531Arg	p.Q531R	ENST00000261965	NM_006322.4	531	cAg/cGg	0																																																																																																																																																																																																																																												
TUBGCP5	0	broad.mit.edu	GRCh37	15	22835924	22835924	+	missense_variant	Missense_Mutation	SNP	G	G	T	rs143778036		TCGA-26-1442-01	TCGA-26-1442-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283645.4:c.155G>T	p.Arg52Leu	p.R52L	ENST00000283645	NM_052903.4	52	cGt/cTt	0	A:0.0002	A:0	1	A:0.0029		T	R/L	uc001yur.3	protein_coding	YES	CCDS10008.1			155/3075									skin(1)	1	c.(154-156)CGT>CTT			hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF33	tubulin, gamma complex associated protein 5		A:0	A:0	ENSP00000283645	A:0	23-Feb	6.59E-05	0.000193				7.50E-05			rs143778036,COSM3747968	23-Feb	.		ENST00000283645	Transcript		A:0.0004	G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	ENSG00000153575	g.chr15:22835924G>T	18600			MODERATE		2.485	medium	getma.org/?cm=msa&ty=f&p=GCP5_HUMAN&rb=1&re=200&var=R52L	NA	getma.org/?cm=var&var=hg19,15,22835924,G,T&fts=all	R52L	--	--	1																																		TUBGCP5_uc001yuq.2_Missense_Mutation_p.R52L	0,1	1		possibly_damaging(0.605)	p.R52L	NM_052903	NP_443135	A:0	deleterious(0)	0,1	GCP5_HUMAN	TUBGCP5	HGNC	Q96RT8	GCP5_HUMAN		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)			2	285	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	UPI000012B2EE	52					SNV	TUBGCP5,missense_variant,p.Arg52Leu,ENST00000283645,NM_052903.4;TUBGCP5,missense_variant,p.Arg52Leu,ENST00000453949,NM_001102610.1;TUBGCP5,upstream_gene_variant,,ENST00000558664,;	uc001yur.3	c.155G>T	285/3849	1	1			c.155G>T						15	SNP	c.(154-156)CGT>CTT	5	5			skin(1)	1	Broad	tubulin, gamma complex associated protein 5			22835924		0.368	ENSG00000153575	16519	g.chr15:22835924G>T	G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding							-19.629212	KEEP	6	6	0.5	62	87	6	6	0.5	6.793686	62	87	0.072993	1	0	0	0	0	1	0	0	0	--	--		0	T			TUBGCP5_uc001yuq.2_Missense_Mutation_p.R52L	180	GBM-26-1442-TP	p.R52L	G	AGATTTCATCGTTTCTTGGAT	NM_052903	NP_443135	22835924	Q96RT8	GCP5_HUMAN	0		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)	2	285	+	T	T		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	Missense_Mutation	52						
TUBGCP5	0	broad.mit.edu	GRCh37	15	22868917	22868917	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-27-1838-01	TCGA-27-1838-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283645.4:c.2789A>G	p.His930Arg	p.H930R	ENST00000283645	NM_052903.4	930	cAc/cGc	0			1			G	H/R	uc001yur.3	protein_coding	YES	CCDS10008.1			2789/3075									skin(1)	1	c.(2788-2790)CAC>CGC			hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF33,Pfam_domain:PF04130	tubulin, gamma complex associated protein 5				ENSP00000283645		20/23									COSM3401626	20/23	.		ENST00000283645	Transcript			G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	ENSG00000153575	g.chr15:22868917A>G	18600			MODERATE		2.275	medium	getma.org/?cm=msa&ty=f&p=GCP5_HUMAN&rb=273&re=942&var=H930R	NA	getma.org/?cm=var&var=hg19,15,22868917,A,G&fts=all	H930R	--	--	1																																		TUBGCP5_uc001yuq.2_Missense_Mutation_p.H930R	1	1		probably_damaging(0.996)	p.H930R	NM_052903	NP_443135		deleterious(0)	1	GCP5_HUMAN	TUBGCP5	HGNC	Q96RT8	GCP5_HUMAN		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)			20	2919	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	UPI000012B2EE	930					SNV	TUBGCP5,missense_variant,p.His930Arg,ENST00000283645,NM_052903.4;TUBGCP5,missense_variant,p.His930Arg,ENST00000453949,NM_001102610.1;TUBGCP5,downstream_gene_variant,,ENST00000561214,;TUBGCP5,non_coding_transcript_exon_variant,,ENST00000558915,;TUBGCP5,downstream_gene_variant,,ENST00000559534,;	uc001yur.3	c.2789A>G	2919/3849	4	4			c.2789A>G						15	SNP	c.(2788-2790)CAC>CGC	18	18			skin(1)	1	Broad	tubulin, gamma complex associated protein 5			22868917		0.453	ENSG00000153575	16519	g.chr15:22868917A>G	G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding							-1.811797	KEEP	4	6	-1	66	51	4	6	-1	20.156067	66	51	0.07563	1	0	0	0	0	1	0	0	0	--	--		0	G			TUBGCP5_uc001yuq.2_Missense_Mutation_p.H930R	197	GBM-27-1838-TP	p.H930R	A	ATTAAAATTCACTATAGGTAT	NM_052903	NP_443135	22868917	Q96RT8	GCP5_HUMAN	0		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)	20	2919	+	G	G		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	Missense_Mutation	930						
TULP1	0	broad.mit.edu	GRCh37	6	35477607	35477607	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-2629-01	TCGA-19-2629-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000229771.6:c.598A>G	p.Lys200Glu	p.K200E	ENST00000229771	NM_003322.3	200	Aaa/Gaa	0			1			C	K/E	uc003okv.3	protein_coding	YES	CCDS4807.1			598/1629									ovary(2)|central_nervous_system(1)	3	c.(598-600)AAA>GAA			hmmpanther:PTHR16517,hmmpanther:PTHR16517:SF12	tubby like protein 1				ENSP00000229771		15-Jun									COSM3411030	15-Jun	.		ENST00000229771	Transcript	1		dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	ENSG00000112041	g.chr6:35477607T>C	12423			MODERATE		1.795	low	getma.org/?cm=msa&ty=f&p=TULP1_HUMAN&rb=1&re=275&var=K200E	NA	getma.org/?cm=var&var=hg19,6,35477607,T,C&fts=all	K200E	--	--	1																																		TULP1_uc003okw.3_Missense_Mutation_p.K147E	1	1		benign(0.059)	p.K200E	NM_003322	NP_003313		tolerated(0.09)	1	TULP1_HUMAN	TULP1	HGNC	O00294	TULP1_HUMAN			Q0QD38_HUMAN		6	610	-			UPI000045742A	200					SNV	TULP1,missense_variant,p.Lys200Glu,ENST00000229771,NM_003322.3;TULP1,missense_variant,p.Lys147Glu,ENST00000322263,;TULP1,missense_variant,p.Lys152Glu,ENST00000428978,;TULP1,intron_variant,,ENST00000373892,;TULP1,downstream_gene_variant,,ENST00000448446,;TULP1,upstream_gene_variant,,ENST00000496434,;	uc003okv.3	c.598A>G	678/2162	4	4			c.598A>G						6	SNP	c.(598-600)AAA>GAA	42	42			ovary(2)|central_nervous_system(1)	3	Broad	tubby like protein 1			35477607		0.592	ENSG00000112041	16523	g.chr6:35477607T>C	dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	GBM(55;1027 1091 11115 23439)			GBM(55;1027 1091 11115 23439)			71.456167	KEEP	27	18	-1	148	139	27	18	-1	110.639861	148	139	0.131757	1	0	0	0	0	1	0	0	0	--	--		0	C			TULP1_uc003okw.3_Missense_Mutation_p.K147E	166	GBM-19-2629-TP	p.K200E	T	GGCTCACCTTTCTTCTTGGTC	NM_003322	NP_003313	35477607	O00294	TULP1_HUMAN	0			6	610	-	C	C			Missense_Mutation	200						
TULP2	0	broad.mit.edu	GRCh37	19	49398651	49398651	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0618-01	TCGA-12-0618-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221399.3:c.321C>T	p.Arg107=	p.R107=	ENST00000221399	NM_003323.2	107	cgC/cgT	0			1			A	R	uc002pkz.2	protein_coding	YES	CCDS12739.1			321/1563									ovary(1)|kidney(1)|skin(1)	3	c.(319-321)CGC>CGT			hmmpanther:PTHR16517:SF24,hmmpanther:PTHR16517	tubby like protein 2				ENSP00000221399		13-May									COSM3404434	13-May	.		ENST00000221399	Transcript			visual perception	cytoplasm|extracellular region		ENSG00000104804	g.chr19:49398651G>A	12424			LOW								--	--	1																																			1	1			p.R107R	NM_003323	NP_003314			1	TULP2_HUMAN	TULP2	HGNC	O00295	TULP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)	E5RHR0_HUMAN		5	472	-		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	UPI0000071877	107					SNV	TULP2,synonymous_variant,p.=,ENST00000221399,NM_003323.2;TULP2,synonymous_variant,p.=,ENST00000522945,;TULP2,synonymous_variant,p.=,ENST00000520977,;TULP2,intron_variant,,ENST00000518572,;NUCB1,upstream_gene_variant,,ENST00000405315,NM_006184.5;NUCB1,upstream_gene_variant,,ENST00000407032,;NUCB1,upstream_gene_variant,,ENST00000452087,;NUCB1,upstream_gene_variant,,ENST00000411700,;NUCB1,upstream_gene_variant,,ENST00000485798,;TULP2,non_coding_transcript_exon_variant,,ENST00000522229,;NUCB1,upstream_gene_variant,,ENST00000443560,;	uc002pkz.2	c.321C>T	466/1754	2	2			c.321C>T						19	SNP	c.(319-321)CGC>CGT	17	17			ovary(1)|kidney(1)|skin(1)	3	Broad	tubby like protein 2			49398651		0.488	ENSG00000104804	16524	g.chr19:49398651G>A	visual perception	cytoplasm|extracellular region								-27.614765	KEEP	4	6	-1	108	101	4	6	-1	12.388805	108	101	0.044444	1	0	0	0	0	0	0	1	0	--	--		0	A				119	GBM-12-0618-TP	p.R107R	G	TCGGGAGGCCGCGCTCGCCCC	NM_003323	NP_003314	49398651	O00295	TULP2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)	5	472	-	A	A		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	Silent	107						
TUSC3	7991	broad.mit.edu	GRCh37	8	15519787	15519787	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-06-5414-01	TCGA-06-5414-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000503731.1:c.690T>G	p.Gly230=	p.G230=	ENST00000503731	NM_006765.3	230	ggT/ggG	0			1			G	G	uc003wwt.2	protein_coding	YES	CCDS5994.1			690/1047									ovary(2)|central_nervous_system(1)	3	c.(688-690)GGT>GGG			Transmembrane_helices:TMhelix,hmmpanther:PTHR12692:SF1,hmmpanther:PTHR12692,Pfam_domain:PF04756	tumor suppressor candidate 3 isoform a				ENSP00000424544		11-May									COSM3412878,COSM3412877	11-May	.		ENST00000503731	Transcript	1		cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		ENSG00000104723	g.chr8:15519787T>G	30242			LOW								--	--	1																																		TUSC3_uc003wwr.2_Silent_p.G230G|TUSC3_uc003wws.2_Silent_p.G230G|TUSC3_uc003wwu.2_Silent_p.G230G|TUSC3_uc003wwv.2_Silent_p.G230G|TUSC3_uc003www.2_Silent_p.G230G|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Silent_p.G230G	1,1	1			p.G230G	NM_006765	NP_006756			1,1	TUSC3_HUMAN	TUSC3	HGNC	Q13454	TUSC3_HUMAN		Colorectal(111;0.113)	Q6Q320_HUMAN		5	900	+			UPI000012FC21	230			Helical; (Potential).		SNV	TUSC3,synonymous_variant,p.=,ENST00000382020,NM_178234.2;TUSC3,synonymous_variant,p.=,ENST00000506802,;TUSC3,synonymous_variant,p.=,ENST00000503731,NM_006765.3;TUSC3,synonymous_variant,p.=,ENST00000509380,;TUSC3,synonymous_variant,p.=,ENST00000511783,;TUSC3,non_coding_transcript_exon_variant,,ENST00000503191,;TUSC3,non_coding_transcript_exon_variant,,ENST00000507400,;TUSC3,synonymous_variant,p.=,ENST00000515859,;TUSC3,synonymous_variant,p.=,ENST00000510836,;	uc003wwt.2	c.690T>G	838/1498	3	3			c.690T>G						8	SNP	c.(688-690)GGT>GGG	15	15			ovary(2)|central_nervous_system(1)	3	Broad	tumor suppressor candidate 3 isoform a			15519787		0.368	ENSG00000104723	16528	g.chr8:15519787T>G	cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex								319.815068	KEEP	56	55	-1	114	113	56	55	-1	326.770467	114	113	0.334495	1	0	0	0	0	0	0	1	0	--	--		0	G			TUSC3_uc003wwr.2_Silent_p.G230G|TUSC3_uc003wws.2_Silent_p.G230G|TUSC3_uc003wwu.2_Silent_p.G230G|TUSC3_uc003wwv.2_Silent_p.G230G|TUSC3_uc003www.2_Silent_p.G230G|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Silent_p.G230G	97	GBM-06-5414-TP	p.G230G	T	ACAAGACTGGTTGGGCCATGG	NM_006765	NP_006756	15519787	Q13454	TUSC3_HUMAN	0		Colorectal(111;0.113)	5	900	+	G	G			Silent	230			Helical; (Potential).			
TUSC3	7991		GRCh37	8	15531274	15531274	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000503731.1:c.727A>G	p.Thr243Ala	p.T243A	ENST00000503731	NM_006765.3	243	Act/Gct	0																																																																																																																																																																																																																																												
TUT1	64852	broad.mit.edu	GRCh37	11	62343579	62343579	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5417-01	TCGA-06-5417-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308436.7:c.1726C>T	p.Pro576Ser	p.P576S	ENST00000308436	NM_022830.2	576	Ccc/Tcc	0			1			A	P/S	uc001nto.2	protein_coding					1612/2625									central_nervous_system(1)|skin(1)	2	c.(1726-1728)CCC>TCC			hmmpanther:PTHR12271:SF11,hmmpanther:PTHR12271,Pfam_domain:PF03828,Superfamily_domains:SSF81631	terminal uridylyl transferase 1, U6				ENSP00000419607		9-Sep									COSM2153294,COSM2153293	9-Sep	.		ENST00000476907	Transcript			mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding	ENSG00000149016	g.chr11:62343579G>A	26184			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=STPAP_HUMAN&rb=490&re=549&var=P538S	NA	getma.org/?cm=var&var=hg19,11,62343579,G,A&fts=all	P538S	--	--	1																																		EEF1G_uc001ntm.1_5'Flank|EEF1G_uc010rlw.1_5'Flank|TUT1_uc001ntp.1_Missense_Mutation_p.P72S	1,1			probably_damaging(0.935)	p.P576S	NM_022830	NP_073741		deleterious(0.04)	1,1	STPAP_HUMAN	TUT1	HGNC	Q9H6E5	STPAP_HUMAN			C9JBX0_HUMAN		9	1764	-			UPI000013DB68	538			PAP-associated.		SNV	TUT1,missense_variant,p.Pro538Ser,ENST00000476907,;TUT1,missense_variant,p.Pro576Ser,ENST00000308436,NM_022830.2;EEF1G,upstream_gene_variant,,ENST00000378019,;EEF1G,upstream_gene_variant,,ENST00000329251,NM_001404.4;TUT1,downstream_gene_variant,,ENST00000278279,;EEF1G,upstream_gene_variant,,ENST00000532986,;EEF1G,upstream_gene_variant,,ENST00000524420,;TUT1,non_coding_transcript_exon_variant,,ENST00000469480,;MIR3654,intron_variant,,ENST00000496634,;MIR3654,intron_variant,,ENST00000526409,;MIR3654,intron_variant,,ENST00000534745,;EEF1G,upstream_gene_variant,,ENST00000525340,;TUT1,downstream_gene_variant,,ENST00000463241,;	uc001nto.2	c.1726C>T	2304/3363	1	1			c.1726C>T						11	SNP	c.(1726-1728)CCC>TCC	64	64			central_nervous_system(1)|skin(1)	2	Broad	terminal uridylyl transferase 1, U6			62343579		0.637	ENSG00000149016	16530	g.chr11:62343579G>A	mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding							69.60761	KEEP	12	11	-1	18	26	12	11	-1	70.721851	18	26	0.359375	1	0	0	0	0	1	0	0	0	--	--		0	A			EEF1G_uc001ntm.1_5'Flank|EEF1G_uc010rlw.1_5'Flank|TUT1_uc001ntp.1_Missense_Mutation_p.P72S	99	GBM-06-5417-TP	p.P576S	G	AGATTCAGGGGGCCAAGGCGC	NM_022830	NP_073741	62343579	Q9H6E5	STPAP_HUMAN	0			9	1764	-	A	A			Missense_Mutation	538			PAP-associated.			
TUT1	64852		GRCh37	11	62342988	62342988	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000308436.7:c.2317C>T	p.Leu773=	p.L773=	ENST00000308436	NM_022830.2	773	Ctg/Ttg	0																																																																																																																																																																																																																																												
TVP23B	51030	broad.mit.edu	GRCh37	17	18708852	18708852	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	rs2589696		TCGA-06-0882-01	TCGA-06-0882-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307767.8:c.592-2A>G		p.X198_splice	ENST00000307767	NM_016078.4	198		0			1			G		uc002gum.2	protein_coding	YES	CCDS42274.1			592/618										0	c.e7-2				hypothetical protein LOC51030				ENSP00000305654											rs2589696,COSM3402651		.		ENST00000307767	Transcript				integral to membrane		ENSG00000171928	g.chr17:18708852A>G	20399			HIGH	6-Jun							--	--	1																																		FAM18B_uc002gun.2_Splice_Site_p.N134_splice	0,1	1			p.N198_splice	NM_016078	NP_057162			0,1	TV23B_HUMAN	TVP23B	HGNC	Q9NYZ1	F18B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.0872)|READ - Rectum adenocarcinoma(1115;0.0967)	K7ENL4_HUMAN,J3QL63_HUMAN,I3L376_HUMAN		7	617	+			UPI00000713C4						SNV	TVP23B,splice_acceptor_variant,,ENST00000476139,;TVP23B,splice_acceptor_variant,,ENST00000307767,NM_016078.4;TVP23B,splice_acceptor_variant,,ENST00000581733,;TVP23B,downstream_gene_variant,,ENST00000574226,;TVP23B,downstream_gene_variant,,ENST00000575261,;CTD-2145A24.3,downstream_gene_variant,,ENST00000584957,;TVP23B,splice_acceptor_variant,,ENST00000482741,;TVP23B,splice_acceptor_variant,,ENST00000574294,;TVP23B,splice_acceptor_variant,,ENST00000571018,;	uc002gum.2	c.592_splice	-/2064	5	3			c.592_splice						17	SNP	c.e7-2	50	50				0	Broad	hypothetical protein LOC51030			18708852		0.368	ENSG00000171928	5428	g.chr17:18708852A>G		integral to membrane								-25.180916	KEEP	3	1	-1	88	59	3	1	-1	6.866671	88	59	0.023622	1	0	0	0	0	0	0	0	1	--	--		0	G			FAM18B_uc002gun.2_Splice_Site_p.N134_splice	77	GBM-06-0882-TP	p.N198_splice	A	TGTCTTTTGCAGAACACTGGA	NM_016078	NP_057162	18708852	Q9NYZ1	F18B1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (53;0.0872)|READ - Rectum adenocarcinoma(1115;0.0967)	7	617	+	G	G			Splice_Site							
TWF1	0	broad.mit.edu	GRCh37	12	44200088	44200100	+	5_prime_UTR_variant	5'UTR	DEL	GCCAGCGGCCCCG	GCCAGCGGCCCCG	-			TCGA-12-0821-01	TCGA-12-0821-01	GCCAGCGGCCCCG	GCCAGCGGCCCCG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395510.2:c.-52_-40delCGGGGCCGCTGGC		*18*	ENST00000395510	NM_001242397.1			0	-:0.0022	-:0.003	1	-:0		-		uc001rob.2	protein_coding		CCDS31780.2			-/1053									stomach(1)	1	c.(49-63)GCCGGGGCCGCTGGCfs				twinfilin 1		-:0	-:0.0041	ENSP00000378886	-:0.001	9-Jan	0.00156	0.00294				0.00459	0.00877	0.00411	rs528164053	9-Jan	common_variant		ENST00000395510	Transcript		-:0.0026		actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity	ENSG00000151239	g.chr12:44200088_44200100delGCCAGCGGCCCCG	9620			MODIFIER								--	--	1																																		TWF1_uc001rnz.2_5'Flank|TWF1_uc001roa.2_Frame_Shift_Del_p.A17fs|TWF1_uc001roc.2_5'UTR					p.A17fs	NM_002822	NP_002813	-:0.0082			TWF1_HUMAN	TWF1	HGNC	Q12792	TWF1_HUMAN		GBM - Glioblastoma multiforme(48;0.0474)			1	79_91	-	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)	UPI000000DA18	Error:Variant_position_missing_in_Q12792_after_alignment					deletion	TWF1,frameshift_variant,p.Gly18AlafsTer9,ENST00000325127,;TWF1,5_prime_UTR_variant,,ENST00000395510,NM_001242397.1,NM_002822.4;TWF1,5_prime_UTR_variant,,ENST00000552521,;TWF1,5_prime_UTR_variant,,ENST00000546662,;TWF1,5_prime_UTR_variant,,ENST00000546506,;TWF1,5_prime_UTR_variant,,ENST00000548403,;TWF1,upstream_gene_variant,,ENST00000548315,;TWF1,upstream_gene_variant,,ENST00000547564,;TWF1,5_prime_UTR_variant,,ENST00000550371,;TWF1,upstream_gene_variant,,ENST00000547459,;TWF1,upstream_gene_variant,,ENST00000547961,;	uc001rob.2	c.51_63delCGGGGCCGCTGGC	79-91/3045	5	5			c.51_63delCGGGGCCGCTGGC						12	DEL	c.(49-63)GCCGGGGCCGCTGGCfs	55	55			stomach(1)	1	Broad	twinfilin 1			44200100		0.54	ENSG00000151239	16531	g.chr12:44200088_44200100delGCCAGCGGCCCCG		actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity			111			111														0.32	1	1	0	1	0	0	0	0	0	--	--		0	-			TWF1_uc001rnz.2_5'Flank|TWF1_uc001roa.2_Frame_Shift_Del_p.A17fs|TWF1_uc001roc.2_5'UTR	123	GBM-12-0821-TP	p.A17fs	GCCAGCGGCCCCG	GCTGAGTGCAGCCAgcggccccggccggcggcc	NM_002822	NP_002813	44200088	Q12792	TWF1_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0474)	1	79_91	-	-	-	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)	Frame_Shift_Del	Error:Variant_position_missing_in_Q12792_after_alignment						
TXK	0	broad.mit.edu	GRCh37	4	48106929	48106929	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-6391-01	TCGA-06-6391-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264316.4:c.490T>C	p.Leu164=	p.L164=	ENST00000264316	NM_003328.2	164	Ttg/Ctg	0			1			G	L	uc003gxx.3	protein_coding	YES	CCDS3480.1			490/1584										0	c.(490-492)TTG>CTG			Prints_domain:PR00401,Superfamily_domains:SSF55550,SMART_domains:SM00252,Gene3D:3.30.505.10,Pfam_domain:PF00017,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF159,PROSITE_profiles:PS50001	TXK tyrosine kinase				ENSP00000264316		15-Jun										15-Jun	.		ENST00000264316	Transcript				cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	ENSG00000074966	g.chr4:48106929A>G	12434			LOW								--	--	1																																		TXK_uc003gxy.1_Silent_p.L164L		1			p.L164L	NM_003328	NP_003319				TXK_HUMAN	TXK	HGNC	P42681	TXK_HUMAN			Q6LD14_HUMAN,Q6LD13_HUMAN,D6RA14_HUMAN		6	576	-			UPI000013D4F9	164			SH2.		SNV	TXK,synonymous_variant,p.=,ENST00000264316,NM_003328.2;RNU6-838P,downstream_gene_variant,,ENST00000363399,;RNU6-868P,downstream_gene_variant,,ENST00000517241,;TXK,non_coding_transcript_exon_variant,,ENST00000510457,;	uc003gxx.3	c.490T>C	576/2914	3	3			c.490T>C						4	SNP	c.(490-492)TTG>CTG	59	59				0	Broad	TXK tyrosine kinase			48106929		0.244	ENSG00000074966	16536	g.chr4:48106929A>G		cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			451			451	31.255549	KEEP	7	6	-1	32	41	7	6	-1	38.617796	32	41	0.169014	1	0	0	0	0	0	0	1	0	--	--		0	G			TXK_uc003gxy.1_Silent_p.L164L	107	GBM-06-6391-TP	p.L164L	A	TCTTGTCTCAATAGATGTTCT	NM_003328	NP_003319	48106929	P42681	TXK_HUMAN	0			6	576	-	G	G			Silent	164			SH2.			
TXK	0	broad.mit.edu	GRCh37	4	48069656	48069656	+	stop_lost	Nonstop_Mutation	SNP	A	A	T			TCGA-19-5959-01	TCGA-19-5959-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264316.4:c.1582T>A	p.Ter528ArgextTer37	p.*528Rext*37	ENST00000264316	NM_003328.2	528	Tga/Aga	0			1			T	*/R	uc003gxx.3	protein_coding	YES	CCDS3480.1			1582/1584										0	c.(1582-1584)TGA>AGA				TXK tyrosine kinase				ENSP00000264316		15/15									COSM3409334	15/15	.		ENST00000264316	Transcript				cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	ENSG00000074966	g.chr4:48069656A>T	12434			HIGH								--	--	1																																		TXK_uc010igj.2_RNA|TXK_uc011bzj.1_Nonstop_Mutation_p.*215R	1	1			p.*528R	NM_003328	NP_003319			1	TXK_HUMAN	TXK	HGNC	P42681	TXK_HUMAN			Q6LD14_HUMAN,Q6LD13_HUMAN,D6RA14_HUMAN		15	1668	-			UPI000013D4F9	528					SNV	TXK,stop_lost,p.Ter528ArgextTer37,ENST00000264316,NM_003328.2;TXK,stop_lost,p.Ter183ArgextTer37,ENST00000507351,;TXK,3_prime_UTR_variant,,ENST00000514937,;TXK,3_prime_UTR_variant,,ENST00000509681,;	uc003gxx.3	c.1582T>A	1668/2914	5	1			c.1582T>A						4	SNP	c.(1582-1584)TGA>AGA	11	11				0	Broad	TXK tyrosine kinase			48069656		0.483	ENSG00000074966	16536	g.chr4:48069656A>T		cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			451			451	213.936057	KEEP	39	38	-1	50	48	39	38	-1	214.302058	50	48	0.446667	1	0	0	0	0	0	0	0	0	--	--		0	T			TXK_uc010igj.2_RNA|TXK_uc011bzj.1_Nonstop_Mutation_p.*215R	177	GBM-19-5959-TP	p.*528R	A	GTTTCCGGTCACCAGGTTTCC	NM_003328	NP_003319	48069656	P42681	TXK_HUMAN	0			15	1668	-	T	T			Nonstop_Mutation	528						
TXLNA	200081		GRCh37	1	32650218	32650218	+	splice_donor_variant	Splice_Site	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000373609.1:c.597+1G>A		p.X199_splice	ENST00000373609		199		0																																																																																																																																																																																																																																												
TXNDC15	0	broad.mit.edu	GRCh37	5	134223439	134223439	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-2631-01	TCGA-19-2631-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358387.4:c.158A>G	p.Gln53Arg	p.Q53R	ENST00000358387	NM_024715.3	53	cAg/cGg	0			1			G	Q/R	uc003lac.1	protein_coding	YES	CCDS4180.1			158/1083									ovary(1)|breast(1)	2	c.(157-159)CAG>CGG			hmmpanther:PTHR14684:SF1,hmmpanther:PTHR14684	disulfide isomerase precursor				ENSP00000351157		5-Feb	3.29E-05				0.000605				rs749391066,COSM3409738	5-Feb	common_variant		ENST00000358387	Transcript			cell redox homeostasis	integral to membrane		ENSG00000113621	g.chr5:134223439A>G	20652			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=TXD15_HUMAN&rb=45&re=143&var=Q53R	NA	getma.org/?cm=var&var=hg19,5,134223439,A,G&fts=all	Q53R	--	--	1																																		TXNDC15_uc010jdy.1_Intron|TXNDC15_uc011cxv.1_RNA	0,1	1		benign(0.059)	p.Q53R	NM_024715	NP_078991		tolerated_low_confidence(0.12)	0,1	TXD15_HUMAN	TXNDC15	HGNC	Q96J42	TXD15_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)				2	816	+			UPI00000359EE	53			Extracellular (Potential).		SNV	TXNDC15,missense_variant,p.Gln53Arg,ENST00000358387,NM_024715.3;TXNDC15,missense_variant,p.Gln30Arg,ENST00000546290,;TXNDC15,missense_variant,p.Gln37Arg,ENST00000508779,;TXNDC15,missense_variant,p.Gln36Arg,ENST00000508810,;TXNDC15,missense_variant,p.Gln51Arg,ENST00000506916,;TXNDC15,upstream_gene_variant,,ENST00000506350,;TXNDC15,synonymous_variant,p.=,ENST00000507024,;TXNDC15,intron_variant,,ENST00000511070,;TXNDC15,upstream_gene_variant,,ENST00000505174,;	uc003lac.1	c.158A>G	783/3548	3	3			c.158A>G						5	SNP	c.(157-159)CAG>CGG	64	64			ovary(1)|breast(1)	2	Broad	disulfide isomerase precursor			134223439		0.567	ENSG00000113621	16544	g.chr5:134223439A>G	cell redox homeostasis	integral to membrane								-12.248729	KEEP	1	2	-1	51	44	1	2	-1	7.980576	51	44	0.034884	1	0	0	0	0	1	0	0	0	--	--		0	G			TXNDC15_uc010jdy.1_Intron|TXNDC15_uc011cxv.1_RNA	167	GBM-19-2631-TP	p.Q53R	A	CACCCTCTCCAGGTGGGGGCT	NM_024715	NP_078991	134223439	Q96J42	TXD15_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	816	+	G	G			Missense_Mutation	53			Extracellular (Potential).			
TXNDC2	0	broad.mit.edu	GRCh37	18	9886894	9886894	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs146821851		TCGA-26-5136-01	TCGA-26-5136-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306084.6:c.418A>G	p.Lys140Glu	p.K140E	ENST00000306084	NM_001098529.1	140	Aaa/Gaa	0			1			G	K/E	uc002koi.3	protein_coding	YES	CCDS42414.1			418/1662									ovary(1)|pancreas(1)	2	c.(418-420)AAA>GAA			Pfam_domain:PF03157	thioredoxin domain-containing 2 isoform 2				ENSP00000304908		2-Feb									COSM417786,COSM417785	2-Feb	.		ENST00000306084	Transcript			cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	ENSG00000168454	g.chr18:9886894A>G	16470			MODERATE		1.095	low	getma.org/?cm=msa&ty=f&p=TXND2_HUMAN&rb=75&re=424&var=K140E	NA	getma.org/?cm=var&var=hg19,18,9886894,A,G&fts=all	K140E	--	--	1																																		TXNDC2_uc010wzq.1_RNA|TXNDC2_uc002koh.3_Missense_Mutation_p.K73E	1,1	1		benign(0.042)	p.K140E	NM_001098529	NP_001091999		tolerated(0.21)	1,1	TXND2_HUMAN	TXNDC2	HGNC	Q86VQ3	TXND2_HUMAN			F5H6S7_HUMAN		2	867	+			UPI000013EAE7	140			2.|22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		SNV	TXNDC2,missense_variant,p.Lys73Glu,ENST00000357775,NM_032243.5;TXNDC2,missense_variant,p.Lys140Glu,ENST00000306084,NM_001098529.1;TXNDC2,missense_variant,p.Lys73Glu,ENST00000536353,;TXNDC2,missense_variant,p.Lys73Glu,ENST00000584255,;TXNDC2,non_coding_transcript_exon_variant,,ENST00000426718,;	uc002koi.3	c.418A>G	617/1873	3	3			c.418A>G						18	SNP	c.(418-420)AAA>GAA	64	64			ovary(1)|pancreas(1)	2	Broad	thioredoxin domain-containing 2 isoform 2			9886894		0.547	ENSG00000168454	16547	g.chr18:9886894A>G	cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity							-82.468704	KEEP	1	4	-1	136	222	1	4	-1	8.08918	136	222	0.014837	1	0	0	0	0	1	0	0	0	--	--		0	G			TXNDC2_uc010wzq.1_RNA|TXNDC2_uc002koh.3_Missense_Mutation_p.K73E	185	GBM-26-5136-TP	p.K140E	A	GTCCTCAGAAAAAGCCATCCA	NM_001098529	NP_001091999	9886894	Q86VQ3	TXND2_HUMAN	0			2	867	+	G	G			Missense_Mutation	140			2.|22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.			
TXNDC2	84203		GRCh37	18	9887074	9887074	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000306084.6:c.598G>A	p.Glu200Lys	p.E200K	ENST00000306084	NM_001098529.1	200	Gaa/Aaa	0																																																																																																																																																																																																																																												
TXNIP	10628	broad.mit.edu	GRCh37	1	145440909	145440909	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2564-01	TCGA-06-2564-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369317.4:c.996C>T	p.Pro332=	p.P332=	ENST00000369317	NM_006472.4	332	ccC/ccT	0			1			T	P	uc001enn.3	protein_coding	YES	CCDS913.1			996/1176									ovary(2)	2	c.(994-996)CCC>CCT			hmmpanther:PTHR11188,hmmpanther:PTHR11188:SF14,Superfamily_domains:SSF81296	thioredoxin interacting protein				ENSP00000358323		8-Jul									COSM2152958	8-Jul	.		ENST00000369317	Transcript			cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	ENSG00000117289	g.chr1:145440909C>T	16952			LOW								--	--	1																																		NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Silent_p.P277P	1	1			p.P332P	NM_006472	NP_006463			1	TXNIP_HUMAN	TXNIP	HGNC	Q9H3M7	TXNIP_HUMAN			B4DVM7_HUMAN		7	1337	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		UPI0000072AFB	332					SNV	TXNIP,synonymous_variant,p.=,ENST00000369317,NM_006472.4;TXNIP,synonymous_variant,p.=,ENST00000425134,;TXNIP,intron_variant,,ENST00000475171,;TXNIP,non_coding_transcript_exon_variant,,ENST00000488537,;TXNIP,non_coding_transcript_exon_variant,,ENST00000486597,;	uc001enn.3	c.996C>T	1330/2927	1	1			c.996C>T						1	SNP	c.(994-996)CCC>CCT	12	12			ovary(2)	2	Broad	thioredoxin interacting protein			145440909		0.443	ENSG00000117289	16553	g.chr1:145440909C>T	cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding							235.273806	KEEP	49	43	-1	124	119	49	43	-1	248.390039	124	119	0.275862	1	0	0	0	0	0	0	1	0	--	--		0	T			NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Silent_p.P277P	87	GBM-06-2564-TP	p.P332P	C	TAGCTCCTCCCTGCTATATGG	NM_006472	NP_006463	145440909	Q9H3M7	TXNIP_HUMAN	0			7	1337	+	T	T	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Silent	332						
TXNIP	0	broad.mit.edu	GRCh37	1	145440100	145440100	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0740-01	TCGA-14-0740-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369317.4:c.534G>A	p.Val178=	p.V178=	ENST00000369317	NM_006472.4	178	gtG/gtA	0			1			A	V	uc001enn.3	protein_coding	YES	CCDS913.1			534/1176									ovary(2)	2	c.(532-534)GTG>GTA			Pfam_domain:PF02752,hmmpanther:PTHR11188,hmmpanther:PTHR11188:SF14,SMART_domains:SM01017,Superfamily_domains:SSF81296	thioredoxin interacting protein				ENSP00000358323		8-Apr									COSM3399666	8-Apr	.		ENST00000369317	Transcript			cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	ENSG00000117289	g.chr1:145440100G>A	16952			LOW								--	--	1																																		NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Silent_p.V123V	1	1			p.V178V	NM_006472	NP_006463			1	TXNIP_HUMAN	TXNIP	HGNC	Q9H3M7	TXNIP_HUMAN			B4DVM7_HUMAN		4	875	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		UPI0000072AFB	178					SNV	TXNIP,synonymous_variant,p.=,ENST00000369317,NM_006472.4;TXNIP,synonymous_variant,p.=,ENST00000425134,;TXNIP,intron_variant,,ENST00000475171,;TXNIP,non_coding_transcript_exon_variant,,ENST00000488537,;TXNIP,upstream_gene_variant,,ENST00000486597,;	uc001enn.3	c.534G>A	868/2927	1	1			c.534G>A						1	SNP	c.(532-534)GTG>GTA	56	56			ovary(2)	2	Broad	thioredoxin interacting protein			145440100		0.433	ENSG00000117289	16553	g.chr1:145440100G>A	cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding							165.202697	KEEP	48	37	-1	99	116	48	37	-1	177.006399	99	116	0.275862	1	0	0	0	0	0	0	1	0	--	--		0	A			NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Silent_p.V123V	132	GBM-14-0740-TP	p.V178V	G	ATGGGCGGGTGTCTGTCTCTG	NM_006472	NP_006463	145440100	Q9H3M7	TXNIP_HUMAN	0			4	875	+	A	A	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Silent	178						
TXNIP	0	broad.mit.edu	GRCh37	1	145439907	145439907	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-4213-01	TCGA-32-4213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369317.4:c.453C>T	p.Val151=	p.V151=	ENST00000369317	NM_006472.4	151	gtC/gtT	0			1			T	V	uc001enn.3	protein_coding	YES	CCDS913.1			453/1176									ovary(2)	2	c.(451-453)GTC>GTT			Pfam_domain:PF00339,hmmpanther:PTHR11188,hmmpanther:PTHR11188:SF14,Superfamily_domains:SSF81296	thioredoxin interacting protein				ENSP00000358323		8-Mar									rs782806656,COSM3399665	8-Mar	.		ENST00000369317	Transcript			cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	ENSG00000117289	g.chr1:145439907C>T	16952			LOW								--	--	1																																		NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Silent_p.V96V	0,1	1			p.V151V	NM_006472	NP_006463			0,1	TXNIP_HUMAN	TXNIP	HGNC	Q9H3M7	TXNIP_HUMAN			B4DVM7_HUMAN		3	794	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		UPI0000072AFB	151					SNV	TXNIP,synonymous_variant,p.=,ENST00000369317,NM_006472.4;TXNIP,synonymous_variant,p.=,ENST00000425134,;TXNIP,intron_variant,,ENST00000475171,;TXNIP,non_coding_transcript_exon_variant,,ENST00000488537,;TXNIP,upstream_gene_variant,,ENST00000486597,;	uc001enn.3	c.453C>T	787/2927	1	1			c.453C>T						1	SNP	c.(451-453)GTC>GTT	11	11			ovary(2)	2	Broad	thioredoxin interacting protein			145439907		0.433	ENSG00000117289	16553	g.chr1:145439907C>T	cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding							136.744722	KEEP	41	29	-1	98	139	41	29	-1	154.783685	98	139	0.227273	1	0	0	0	0	0	0	1	0	--	--		0	T			NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Silent_p.V96V	247	GBM-32-4213-TP	p.V151V	C	TGGTGGATGTCAATACCCCTG	NM_006472	NP_006463	145439907	Q9H3M7	TXNIP_HUMAN	0			3	794	+	T	T	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Silent	151						
TXNIP	10628		GRCh37	1	145439050	145439050	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000369317.4:c.248C>A	p.Thr83Lys	p.T83K	ENST00000369317	NM_006472.4	83	aCa/aAa	0																																																																																																																																																																																																																																												
TXNRD1	7296	broad.mit.edu	GRCh37	12	104714974	104714974	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000525566.1:c.1095C>T	p.Asp365=	p.D365=	ENST00000525566	NM_001093771.2	365	gaC/gaT	0	A:0.0081		1			T	D	uc010swk.1	protein_coding	YES	CCDS53820.1			1095/1950										0	c.(1093-1095)GAC>GAT			Prints_domain:PR00411,Superfamily_domains:SSF51905,Gene3D:3.50.50.60,TIGRFAM_domain:TIGR01438,Pfam_domain:PF00070,Pfam_domain:PF07992,hmmpanther:PTHR22912,hmmpanther:PTHR22912:SF129	thioredoxin reductase 1 isoform 3			A:0	ENSP00000434516		17-Oct	4.14E-05					1.50E-05		0.000242	rs201777096,COSM3398274,COSM3398273,COSM3398272	17-Oct	.		ENST00000525566	Transcript		T:0.0004	cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	ENSG00000198431	g.chr12:104714974C>T	12437			LOW								--	--	1																																		TXNRD1_uc010swl.1_Silent_p.D215D|TXNRD1_uc010swm.1_Silent_p.D267D|TXNRD1_uc010swn.1_Silent_p.D215D|TXNRD1_uc010swo.1_Silent_p.D215D|TXNRD1_uc010swp.1_Silent_p.D177D|TXNRD1_uc010swq.1_Silent_p.D265D|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Silent_p.D281D	0,1,1,1	1			p.D365D	NM_001093771	NP_001087240			0,1,1,1	TRXR1_HUMAN	TXNRD1	HGNC	Q16881	TRXR1_HUMAN			F5H780_HUMAN,E9PRI8_HUMAN,E9PQI3_HUMAN,E9PLT3_HUMAN,E9PKI4_HUMAN,E9PKD3_HUMAN,B7Z904_HUMAN,B2R5P6_HUMAN		10	1117	+			UPI00015294EE	365	D -> N (in Ref. 3; AAC69621).				SNV	TXNRD1,synonymous_variant,p.=,ENST00000526691,NM_001261445.1,NM_003330.3;TXNRD1,synonymous_variant,p.=,ENST00000503506,NM_182729.2,NM_001261446.1,NM_182743.2;TXNRD1,synonymous_variant,p.=,ENST00000388854,;TXNRD1,synonymous_variant,p.=,ENST00000378070,;TXNRD1,synonymous_variant,p.=,ENST00000525566,NM_001093771.2;TXNRD1,synonymous_variant,p.=,ENST00000429002,;TXNRD1,synonymous_variant,p.=,ENST00000526390,;TXNRD1,synonymous_variant,p.=,ENST00000354940,NM_182742.2;TXNRD1,synonymous_variant,p.=,ENST00000427956,;TXNRD1,synonymous_variant,p.=,ENST00000397736,;TXNRD1,synonymous_variant,p.=,ENST00000540716,;TXNRD1,synonymous_variant,p.=,ENST00000529546,;TXNRD1,synonymous_variant,p.=,ENST00000524698,;TXNRD1,synonymous_variant,p.=,ENST00000542918,;TXNRD1,synonymous_variant,p.=,ENST00000526950,;TXNRD1,intron_variant,,ENST00000529751,;TXNRD1,downstream_gene_variant,,ENST00000527335,;TXNRD1,downstream_gene_variant,,ENST00000526580,;TXNRD1,synonymous_variant,p.=,ENST00000527688,;	uc010swk.1	c.1095C>T	1119/3836	1	1			c.1095C>T						12	SNP	c.(1093-1095)GAC>GAT	4	4				0	Broad	thioredoxin reductase 1 isoform 3			104714974		0.448	ENSG00000198431	16557	g.chr12:104714974C>T	cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	Ovarian(139;555 1836 9186 9946 10884)			Ovarian(139;555 1836 9186 9946 10884)			540.633879	KEEP	90	88	-1	35	27	90	88	-1	552.912005	35	27	0.75	1	0	0	0	0	0	0	1	0	--	--		0	T			TXNRD1_uc010swl.1_Silent_p.D215D|TXNRD1_uc010swm.1_Silent_p.D267D|TXNRD1_uc010swn.1_Silent_p.D215D|TXNRD1_uc010swo.1_Silent_p.D215D|TXNRD1_uc010swp.1_Silent_p.D177D|TXNRD1_uc010swq.1_Silent_p.D265D|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Silent_p.D281D	102	GBM-06-5858-TP	p.D365D	C	TTGGTTTAGACGTCACTGTTA	NM_001093771	NP_001087240	104714974	Q16881	TRXR1_HUMAN	0			10	1117	+	T	T			Silent	365	D -> N (in Ref. 3; AAC69621).					
TXNRD1	0	broad.mit.edu	GRCh37	12	104705084	104705084	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01	TCGA-76-4926-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000525566.1:c.431G>A	p.Arg144Lys	p.R144K	ENST00000525566	NM_001093771.2	144	aGa/aAa	0			1			A	R/K	uc010swk.1	protein_coding	YES	CCDS53820.1			431/1950										0	c.(430-432)AGA>AAA			Superfamily_domains:SSF52833,Gene3D:3.40.30.10,hmmpanther:PTHR22912,hmmpanther:PTHR22912:SF129,PROSITE_profiles:PS51354	thioredoxin reductase 1 isoform 3				ENSP00000434516		17-May									COSM3398271,COSM3398270	17-May	.		ENST00000525566	Transcript			cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	ENSG00000198431	g.chr12:104705084G>A	12437			MODERATE		-0.395	neutral	getma.org/?cm=msa&ty=f&p=TRXR1_HUMAN&rb=56&re=156&var=R144K	getma.org/pdb.php?prot=TRXR1_HUMAN&from=56&to=156&var=R144K	getma.org/?cm=var&var=hg19,12,104705084,G,A&fts=all	R144K	--	--	1																																		TXNRD1_uc010swl.1_5'UTR|TXNRD1_uc010swm.1_Missense_Mutation_p.R46K|TXNRD1_uc010swn.1_5'UTR|TXNRD1_uc010swo.1_5'UTR|TXNRD1_uc010swp.1_Intron|TXNRD1_uc010swq.1_Missense_Mutation_p.R44K|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Missense_Mutation_p.R60K|TXNRD1_uc001tko.1_RNA|TXNRD1_uc001tkp.1_RNA|TXNRD1_uc001tkv.1_RNA	1,1	1		benign(0.001)	p.R144K	NM_001093771	NP_001087240		tolerated(1)	1,1	TRXR1_HUMAN	TXNRD1	HGNC	Q16881	TRXR1_HUMAN			F5H780_HUMAN,E9PRI8_HUMAN,E9PQI3_HUMAN,E9PLT3_HUMAN,E9PKI4_HUMAN,E9PKD3_HUMAN,B7Z904_HUMAN,B2R5P6_HUMAN		5	453	+			UPI00015294EE	144			Glutaredoxin.		SNV	TXNRD1,missense_variant,p.Arg46Lys,ENST00000526691,NM_001261445.1,NM_003330.3;TXNRD1,missense_variant,p.Arg46Lys,ENST00000388854,;TXNRD1,missense_variant,p.Arg93Lys,ENST00000378070,;TXNRD1,missense_variant,p.Arg144Lys,ENST00000525566,NM_001093771.2;TXNRD1,missense_variant,p.Arg144Lys,ENST00000429002,;TXNRD1,missense_variant,p.Arg38Lys,ENST00000526390,;TXNRD1,missense_variant,p.Arg109Lys,ENST00000427956,;TXNRD1,missense_variant,p.Arg38Lys,ENST00000397736,;TXNRD1,missense_variant,p.Arg44Lys,ENST00000542918,;TXNRD1,missense_variant,p.Arg63Lys,ENST00000526950,;TXNRD1,missense_variant,p.Arg38Lys,ENST00000531691,;TXNRD1,missense_variant,p.Arg63Lys,ENST00000528079,;TXNRD1,5_prime_UTR_variant,,ENST00000503506,NM_182729.2,NM_001261446.1,NM_182743.2;TXNRD1,5_prime_UTR_variant,,ENST00000354940,NM_182742.2;TXNRD1,5_prime_UTR_variant,,ENST00000524698,;TXNRD1,5_prime_UTR_variant,,ENST00000527335,;TXNRD1,5_prime_UTR_variant,,ENST00000529784,;TXNRD1,5_prime_UTR_variant,,ENST00000526266,;TXNRD1,5_prime_UTR_variant,,ENST00000531689,;TXNRD1,5_prime_UTR_variant,,ENST00000526580,;TXNRD1,intron_variant,,ENST00000540716,;TXNRD1,intron_variant,,ENST00000529546,;TXNRD1,intron_variant,,ENST00000529751,;TXNRD1,5_prime_UTR_variant,,ENST00000527688,;	uc010swk.1	c.431G>A	455/3836	2	2			c.431G>A						12	SNP	c.(430-432)AGA>AAA	41	41				0	Broad	thioredoxin reductase 1 isoform 3			104705084		0.373	ENSG00000198431	16557	g.chr12:104705084G>A	cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	Ovarian(139;555 1836 9186 9946 10884)			Ovarian(139;555 1836 9186 9946 10884)			40.163094	KEEP	7	6	-1	8	18	7	6	-1	41.000361	8	18	0.342105	1	0	0	0	0	1	0	0	0	--	--		0	A			TXNRD1_uc010swl.1_5'UTR|TXNRD1_uc010swm.1_Missense_Mutation_p.R46K|TXNRD1_uc010swn.1_5'UTR|TXNRD1_uc010swo.1_5'UTR|TXNRD1_uc010swp.1_Intron|TXNRD1_uc010swq.1_Missense_Mutation_p.R44K|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Missense_Mutation_p.R60K|TXNRD1_uc001tko.1_RNA|TXNRD1_uc001tkp.1_RNA|TXNRD1_uc001tkv.1_RNA	266	GBM-76-4926-TP	p.R144K	G	CAGGAGGGCAGACTTCAAAAG	NM_001093771	NP_001087240	104705084	Q16881	TRXR1_HUMAN	0			5	453	+	A	A			Missense_Mutation	144			Glutaredoxin.			
TXNRD1	0	broad.mit.edu	GRCh37	12	104721416	104721416	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4927-01	TCGA-76-4927-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000525566.1:c.1509G>A	p.Leu503=	p.L503=	ENST00000525566	NM_001093771.2	503	ctG/ctA	0			1			A	L	uc010swk.1	protein_coding	YES	CCDS53820.1			1509/1950										0	c.(1507-1509)CTG>CTA			Superfamily_domains:SSF51905,Gene3D:3.50.50.60,TIGRFAM_domain:TIGR01438,hmmpanther:PTHR22912,hmmpanther:PTHR22912:SF129	thioredoxin reductase 1 isoform 3				ENSP00000434516		13/17									COSM3398277,COSM3398276,COSM3398275	13/17	.		ENST00000525566	Transcript			cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	ENSG00000198431	g.chr12:104721416G>A	12437			LOW								--	--	1																																		TXNRD1_uc010swl.1_Silent_p.L353L|TXNRD1_uc010swm.1_Silent_p.L405L|TXNRD1_uc010swn.1_Silent_p.L353L|TXNRD1_uc010swo.1_Silent_p.L353L|TXNRD1_uc010swp.1_Silent_p.L315L|TXNRD1_uc010swq.1_Silent_p.L403L|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Silent_p.L419L	1,1,1	1			p.L503L	NM_001093771	NP_001087240			1,1,1	TRXR1_HUMAN	TXNRD1	HGNC	Q16881	TRXR1_HUMAN			F5H780_HUMAN,E9PRI8_HUMAN,E9PQI3_HUMAN,E9PLT3_HUMAN,E9PKI4_HUMAN,E9PKD3_HUMAN,B7Z904_HUMAN,B2R5P6_HUMAN		13	1531	+			UPI00015294EE	503					SNV	TXNRD1,synonymous_variant,p.=,ENST00000526691,NM_001261445.1,NM_003330.3;TXNRD1,synonymous_variant,p.=,ENST00000503506,NM_182729.2,NM_001261446.1,NM_182743.2;TXNRD1,synonymous_variant,p.=,ENST00000388854,;TXNRD1,synonymous_variant,p.=,ENST00000378070,;TXNRD1,synonymous_variant,p.=,ENST00000525566,NM_001093771.2;TXNRD1,synonymous_variant,p.=,ENST00000429002,;TXNRD1,synonymous_variant,p.=,ENST00000526390,;TXNRD1,synonymous_variant,p.=,ENST00000354940,NM_182742.2;TXNRD1,synonymous_variant,p.=,ENST00000427956,;TXNRD1,synonymous_variant,p.=,ENST00000397736,;TXNRD1,synonymous_variant,p.=,ENST00000540716,;TXNRD1,synonymous_variant,p.=,ENST00000529546,;TXNRD1,synonymous_variant,p.=,ENST00000524698,;TXNRD1,synonymous_variant,p.=,ENST00000542918,;TXNRD1,synonymous_variant,p.=,ENST00000526950,;TXNRD1,downstream_gene_variant,,ENST00000529751,;TXNRD1,synonymous_variant,p.=,ENST00000527688,;	uc010swk.1	c.1509G>A	1533/3836	2	2			c.1509G>A						12	SNP	c.(1507-1509)CTG>CTA	47	47				0	Broad	thioredoxin reductase 1 isoform 3			104721416		0.473	ENSG00000198431	16557	g.chr12:104721416G>A	cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	Ovarian(139;555 1836 9186 9946 10884)			Ovarian(139;555 1836 9186 9946 10884)			48.327556	KEEP	9	11	-1	18	27	9	11	-1	49.915087	18	27	0.321429	1	0	0	0	0	0	0	1	0	--	--		0	A			TXNRD1_uc010swl.1_Silent_p.L353L|TXNRD1_uc010swm.1_Silent_p.L405L|TXNRD1_uc010swn.1_Silent_p.L353L|TXNRD1_uc010swo.1_Silent_p.L353L|TXNRD1_uc010swp.1_Silent_p.L315L|TXNRD1_uc010swq.1_Silent_p.L403L|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Silent_p.L419L	267	GBM-76-4927-TP	p.L503L	G	GAAGATTGCTGGCTCAGAGGC	NM_001093771	NP_001087240	104721416	Q16881	TRXR1_HUMAN	0			13	1531	+	A	A			Silent	503						
TXNRD2	10587	broad.mit.edu	GRCh37	22	19870868	19870868	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01	TCGA-06-0173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000400521.1:c.1066G>A	p.Ala356Thr	p.A356T	ENST00000400521	NM_006440.3	356	Gcc/Acc	0		T:0	1	T:0		T	A/T	uc011ahc.1	protein_coding	YES	CCDS42981.1			1066/1575									ovary(2)	2	c.(1066-1068)GCC>ACC			hmmpanther:PTHR22912,hmmpanther:PTHR22912:SF101,Pfam_domain:PF07992,Gene3D:3.50.50.60,TIGRFAM_domain:TIGR01438,Superfamily_domains:SSF51905,Prints_domain:PR00411,Prints_domain:PR00368	thioredoxin reductase 2 precursor		T:0		ENSP00000383365	T:0	18-Dec	4.96E-05			0.000116				0.000242	rs576244023,COSM2150362	18-Dec	.		ENST00000400521	Transcript	1	T:0.0008	cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity	ENSG00000184470	g.chr22:19870868C>T	18155			MODERATE		4.495	high	getma.org/?cm=msa&ty=f&p=TRXR2_HUMAN&rb=41&re=365&var=A356T	getma.org/pdb.php?prot=TRXR2_HUMAN&from=41&to=365&var=A356T	getma.org/?cm=var&var=hg19,22,19870868,C,T&fts=all	A356T	--	--	1																																		TXNRD2_uc002zql.1_Missense_Mutation_p.A110T|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Missense_Mutation_p.A355T|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqq.1_5'Flank	0,1	1		probably_damaging(0.987)	p.A356T	NM_006440	NP_006431	T:0.0041	deleterious(0)	0,1	TRXR2_HUMAN	TXNRD2	HGNC	Q9NNW7	TRXR2_HUMAN					12	1099	-	Colorectal(54;0.0993)		UPI0000167BDD	356					SNV	TXNRD2,missense_variant,p.Ala355Thr,ENST00000400519,;TXNRD2,missense_variant,p.Ala355Thr,ENST00000535882,;TXNRD2,missense_variant,p.Ala326Thr,ENST00000400518,;TXNRD2,missense_variant,p.Ala356Thr,ENST00000400521,NM_006440.3;TXNRD2,missense_variant,p.Ala326Thr,ENST00000542719,;TXNRD2,non_coding_transcript_exon_variant,,ENST00000474308,;TXNRD2,upstream_gene_variant,,ENST00000462330,;TXNRD2,upstream_gene_variant,,ENST00000485358,;TXNRD2,upstream_gene_variant,,ENST00000462843,;TXNRD2,missense_variant,p.Ala333Thr,ENST00000400525,;TXNRD2,non_coding_transcript_exon_variant,,ENST00000487165,;TXNRD2,non_coding_transcript_exon_variant,,ENST00000494454,;TXNRD2,upstream_gene_variant,,ENST00000495655,;AC000078.5,upstream_gene_variant,,ENST00000420617,;	uc011ahc.1	c.1066G>A	1073/1933	1	1			c.1066G>A						22	SNP	c.(1066-1068)GCC>ACC	16	16			ovary(2)	2	Broad	thioredoxin reductase 2 precursor			19870868		0.647	ENSG00000184470	16558	g.chr22:19870868C>T	cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity							163.934813	KEEP	28	39	-1	33	36	28	39	-1	163.980003	33	36	0.479339	1	0	0	0	0	1	0	0	0	--	--		0	T			TXNRD2_uc002zql.1_Missense_Mutation_p.A110T|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Missense_Mutation_p.A355T|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqq.1_5'Flank	36	GBM-06-0173-TP	p.A356T	C	TCACCAATGGCGTAGATGTGG	NM_006440	NP_006431	19870868	Q9NNW7	TRXR2_HUMAN	0			12	1099	-	T	T	Colorectal(54;0.0993)		Missense_Mutation	356						
TYK2	0	broad.mit.edu	GRCh37	19	10463654	10463654	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5134-01	TCGA-26-5134-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264818.6:c.3148G>A	p.Glu1050Lys	p.E1050K	ENST00000264818		1050	Gaa/Aaa	0			1			T	E/K	uc002moc.3	protein_coding		CCDS12236.1			3148/3564									lung(5)|large_intestine(2)|ovary(1)|breast(1)	9	c.(3148-3150)GAA>AAA			PROSITE_profiles:PS50011,hmmpanther:PTHR24418:SF68,hmmpanther:PTHR24418,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00219,PIRSF_domain:PIRSF000636,Superfamily_domains:SSF56112	tyrosine kinase 2				ENSP00000264818		20/23									COSM2156983	20/23	.		ENST00000264818	Transcript	1		intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	ENSG00000105397	g.chr19:10463654C>T	12440			MODERATE		0.6	neutral	getma.org/?cm=msa&ty=f&p=TYK2_HUMAN&rb=897&re=1169&var=E1050K	getma.org/pdb.php?prot=TYK2_HUMAN&from=897&to=1169&var=E1050K	getma.org/?cm=var&var=hg19,19,10463654,C,T&fts=all	E1050K	--	--	1																																		TYK2_uc010dxe.2_Missense_Mutation_p.E865K	1			possibly_damaging(0.594)	p.E1050K	NM_003331	NP_003322		deleterious(0.04)	1	TYK2_HUMAN	TYK2	HGNC	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		E9PQM4_HUMAN,E9PQL2_HUMAN,E9PM19_HUMAN		22	3526	-			UPI000013D573	1050			Protein kinase 2.		SNV	TYK2,missense_variant,p.Glu1050Lys,ENST00000525621,NM_003331.4;TYK2,missense_variant,p.Glu1050Lys,ENST00000264818,;TYK2,missense_variant,p.Glu865Lys,ENST00000524462,;TYK2,missense_variant,p.Glu73Lys,ENST00000529739,;TYK2,intron_variant,,ENST00000530560,;TYK2,downstream_gene_variant,,ENST00000529370,;TYK2,upstream_gene_variant,,ENST00000525976,;TYK2,non_coding_transcript_exon_variant,,ENST00000592137,;TYK2,intron_variant,,ENST00000529422,;TYK2,missense_variant,p.Arg109Gln,ENST00000527481,;TYK2,non_coding_transcript_exon_variant,,ENST00000530220,;TYK2,downstream_gene_variant,,ENST00000533334,;TYK2,downstream_gene_variant,,ENST00000529412,;TYK2,downstream_gene_variant,,ENST00000534228,;TYK2,upstream_gene_variant,,ENST00000524470,;	uc002moc.3	c.3148G>A	3148/3865	2	2			c.3148G>A						19	SNP	c.(3148-3150)GAA>AAA	45	45			lung(5)|large_intestine(2)|ovary(1)|breast(1)	9	Broad	tyrosine kinase 2			10463654		0.652	ENSG00000105397	16560	g.chr19:10463654C>T	intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			414			414	73.054919	KEEP	16	12	-1	25	21	16	12	-1	74.062	25	21	0.371429	1	0	0	0	0	1	0	0	0	--	--		0	T			TYK2_uc010dxe.2_Missense_Mutation_p.E865K	183	GBM-26-5134-TP	p.E1050K	C	TCGTGGCCTTCGGGCACGGCC	NM_003331	NP_003322	10463654	P29597	TYK2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		22	3526	-	T	T			Missense_Mutation	1050			Protein kinase 2.			
TYR	0	broad.mit.edu	GRCh37	11	88911588	88911588	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-1390-01	TCGA-19-1390-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263321.5:c.467A>G	p.Tyr156Cys	p.Y156C	ENST00000263321	NM_000372.4	156	tAt/tGt	0			1			G	Y/C	uc001pcs.2	protein_coding	YES	CCDS8284.1			467/1590									ovary(2)|central_nervous_system(1)	3	c.(466-468)TAT>TGT			Gene3D:1.10.1280.10,hmmpanther:PTHR11474,hmmpanther:PTHR11474:SF16,Superfamily_domains:SSF48056	tyrosinase precursor	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)			ENSP00000263321		5-Jan									COSM2222330	5-Jan	.	Oculocutaneous_Albinism	ENST00000263321	Transcript	1		eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	ENSG00000077498	g.chr11:88911588A>G	12442			MODERATE		3.235	medium	getma.org/?cm=msa&ty=f&p=TYRO_HUMAN&rb=1&re=169&var=Y156C	NA	getma.org/?cm=var&var=hg19,11,88911588,A,G&fts=all	Y156C	--	--	1																																			1	1		possibly_damaging(0.897)	p.Y156C	NM_000372	NP_000363		deleterious(0.01)	1	TYRO_HUMAN	TYR	HGNC	P14679	TYRO_HUMAN			Q9UMA2_HUMAN,Q9UMA1_HUMAN,L8B082_HUMAN		1	549	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	UPI000004441A	156			Lumenal, melanosome (Potential).		SNV	TYR,missense_variant,p.Tyr156Cys,ENST00000263321,NM_000372.4;TYR,non_coding_transcript_exon_variant,,ENST00000526139,;	uc001pcs.2	c.467A>G	969/2485	3	3			c.467A>G						11	SNP	c.(466-468)TAT>TGT	57	57			ovary(2)|central_nervous_system(1)	3	Broad	tyrosinase precursor		Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	88911588	Oculocutaneous_Albinism	0.408	ENSG00000077498	16563	g.chr11:88911588A>G	eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity							156.711121	KEEP	30	22	-1	68	59	30	22	-1	163.850307	68	59	0.284884	1	0	0	0	0	1	0	0	0	--	--		0	G				159	GBM-19-1390-TP	p.Y156C	A	ATAGGGACCTATGGCCAAATG	NM_000372	NP_000363	88911588	P14679	TYRO_HUMAN	0			1	549	+	G	G		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	Missense_Mutation	156			Lumenal, melanosome (Potential).			
TYRO3	0	broad.mit.edu	GRCh37	15	41859568	41859568	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-27-2527-01	TCGA-27-2527-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263798.3:c.794C>A	p.Ala265Asp	p.A265D	ENST00000263798	NM_006293.3	265	gCc/gAc	0			1			A	A/D	uc001zof.1	protein_coding	YES	CCDS10080.1			794/2673								p.A265G(1)	ovary(3)|lung(2)|central_nervous_system(1)	6	c.(793-795)GCC>GAC			PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF279,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265	TYRO3 protein tyrosine kinase precursor				ENSP00000263798		19-Jul									COSM3747973,COSM3747972	19-Jul	.		ENST00000263798	Transcript				integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	ENSG00000092445	g.chr15:41859568C>A	12446			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=TYRO3_HUMAN&rb=226&re=310&var=A265D	getma.org/pdb.php?prot=TYRO3_HUMAN&from=226&to=310&var=A265D	getma.org/?cm=var&var=hg19,15,41859568,C,A&fts=all	A265D	--	--	1																																			1,1	1		benign(0.356)	p.A265D	NM_006293	NP_006284		tolerated(0.05)	1,1	TYRO3_HUMAN	TYRO3	HGNC	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	Q8N6J3_HUMAN,H0YNK6_HUMAN,B4DIA4_HUMAN		7	1018	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	UPI000013788A	265			Fibronectin type-III 1.|Extracellular (Potential).		SNV	TYRO3,missense_variant,p.Ala265Asp,ENST00000263798,NM_006293.3;TYRO3,missense_variant,p.Ala220Asp,ENST00000559066,;TYRO3,upstream_gene_variant,,ENST00000568343,;TYRO3,non_coding_transcript_exon_variant,,ENST00000560227,;TYRO3,upstream_gene_variant,,ENST00000560162,;TYRO3,upstream_gene_variant,,ENST00000559851,;TYRO3,upstream_gene_variant,,ENST00000559815,;	uc001zof.1	c.794C>A	1018/3949	2	2			c.794C>A						15	SNP	c.(793-795)GCC>GAC	48	48		p.A265G(1)	ovary(3)|lung(2)|central_nervous_system(1)	6	Broad	TYRO3 protein tyrosine kinase precursor			41859568		0.557	ENSG00000092445	16564	g.chr15:41859568C>A		integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			1052			1052	-42.493312	KEEP	6	4	0.4	121	136	6	4	0.4	7.563954	121	136	0.041096	1	0	0	0	0	1	0	0	0	--	--		0	A				204	GBM-27-2527-TP	p.A265D	C	GTGACACAGGCCCCAGGAGGC	NM_006293	NP_006284	41859568	Q06418	TYRO3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	7	1018	+	A	A		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	Missense_Mutation	265			Fibronectin type-III 1.|Extracellular (Potential).			
TYRP1	0	broad.mit.edu	GRCh37	9	12702411	12702414	+	frameshift_variant	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-15-1444-01	TCGA-15-1444-01	ACAA	ACAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388918.5:c.1057_1060delAACA	p.Asn353ValfsTer31	p.N353Vfs*31	ENST00000388918	NM_000550.2	352	ACAAac/ac	0			1			-	TN/X	uc003zkv.3	protein_coding	YES	CCDS34990.1			1054-1057/1614									lung(1)	1	c.(1054-1059)ACAAACfs			hmmpanther:PTHR11474,hmmpanther:PTHR11474:SF3,Gene3D:1.10.1280.10,Pfam_domain:PF00264,Superfamily_domains:SSF48056	tyrosinase-related protein 1 precursor				ENSP00000373570		8-May	8.24E-05			0.000352		4.57E-05		0.000246	rs752724988,COSM166262	8-May	.	Oculocutaneous_Albinism	ENST00000388918	Transcript	1		melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	ENSG00000107165	g.chr9:12702411_12702414delACAA	12450	3		HIGH								--	--	1																																			0,1	1			p.T352fs	NM_000550	NP_000541			0,1	TYRP1_HUMAN	TYRP1	HGNC	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	C9JZ52_HUMAN,B4DNE6_HUMAN		5	1232_1235	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)	UPI0000039DCA	352_353			Lumenal, melanosome (Potential).		deletion	TYRP1,frameshift_variant,p.Asn353ValfsTer31,ENST00000388918,NM_000550.2;TYRP1,frameshift_variant,p.Asn63ValfsTer30,ENST00000381137,;TYRP1,frameshift_variant,p.Asn63ValfsTer31,ENST00000381136,;RP11-3L8.3,intron_variant,,ENST00000417638,;TYRP1,non_coding_transcript_exon_variant,,ENST00000381142,;TYRP1,non_coding_transcript_exon_variant,,ENST00000470909,;	uc003zkv.3	c.1054_1057delACAA	1183-1186/2851	5	5			c.1054_1057delACAA						9	DEL	c.(1054-1059)ACAAACfs	11	11			lung(1)	1	Broad	tyrosinase-related protein 1 precursor			12702414	Oculocutaneous_Albinism	0.387	ENSG00000107165	16566	g.chr9:12702411_12702414delACAA	melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity																				0.47	1	1	0	1	0	0	0	0	0	--	--		0	-				154	GBM-15-1444-TP	p.T352fs	ACAA	TTCCAACTCTACAAACAGTTTCCG	NM_000550	NP_000541	12702411	P17643	TYRP1_HUMAN	0		GBM - Glioblastoma multiforme(50;9.85e-06)	5	1232_1235	+	-	-		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)	Frame_Shift_Del	352_353			Lumenal, melanosome (Potential).			
TYRP1	0	broad.mit.edu	GRCh37	9	12702411	12702414	+	frameshift_variant	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-27-1837-01	TCGA-27-1837-01	ACAA	ACAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000388918.5:c.1057_1060delAACA	p.Asn353ValfsTer31	p.N353Vfs*31	ENST00000388918	NM_000550.2	352	ACAAac/ac	0			1			-	TN/X	uc003zkv.3	protein_coding	YES	CCDS34990.1			1054-1057/1614									lung(1)	1	c.(1054-1059)ACAAACfs			hmmpanther:PTHR11474,hmmpanther:PTHR11474:SF3,Gene3D:1.10.1280.10,Pfam_domain:PF00264,Superfamily_domains:SSF48056	tyrosinase-related protein 1 precursor				ENSP00000373570		8-May	8.24E-05			0.000352		4.57E-05		0.000246	rs752724988,COSM166262	8-May	.	Oculocutaneous_Albinism	ENST00000388918	Transcript	1		melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	ENSG00000107165	g.chr9:12702411_12702414delACAA	12450	3		HIGH								--	--	1																																			0,1	1			p.T352fs	NM_000550	NP_000541			0,1	TYRP1_HUMAN	TYRP1	HGNC	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	C9JZ52_HUMAN,B4DNE6_HUMAN		5	1232_1235	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)	UPI0000039DCA	352_353			Lumenal, melanosome (Potential).		deletion	TYRP1,frameshift_variant,p.Asn353ValfsTer31,ENST00000388918,NM_000550.2;TYRP1,frameshift_variant,p.Asn63ValfsTer30,ENST00000381137,;TYRP1,frameshift_variant,p.Asn63ValfsTer31,ENST00000381136,;RP11-3L8.3,intron_variant,,ENST00000417638,;TYRP1,non_coding_transcript_exon_variant,,ENST00000381142,;TYRP1,non_coding_transcript_exon_variant,,ENST00000470909,;	uc003zkv.3	c.1054_1057delACAA	1183-1186/2851	5	5			c.1054_1057delACAA						9	DEL	c.(1054-1059)ACAAACfs	11	11			lung(1)	1	Broad	tyrosinase-related protein 1 precursor			12702414	Oculocutaneous_Albinism	0.387	ENSG00000107165	16566	g.chr9:12702411_12702414delACAA	melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity																				0.4	1	1	0	1	0	0	0	0	0	--	--		0	-				196	GBM-27-1837-TP	p.T352fs	ACAA	TTCCAACTCTACAAACAGTTTCCG	NM_000550	NP_000541	12702411	P17643	TYRP1_HUMAN	0		GBM - Glioblastoma multiforme(50;9.85e-06)	5	1232_1235	+	-	-		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)	Frame_Shift_Del	352_353			Lumenal, melanosome (Potential).			
TYSND1	219743	broad.mit.edu	GRCh37	10	71905207	71905207	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000287078.6:c.1136C>T	p.Ala379Val	p.A379V	ENST00000287078	NM_173555.3	379	gCc/gTc	0			1			A	A/V	uc001jqr.2	protein_coding	YES	CCDS31213.1			1136/1701									large_intestine(1)	1	c.(1135-1137)GCC>GTC			Gene3D:2.40.10.10,Pfam_domain:PF13365,PIRSF_domain:PIRSF037989,hmmpanther:PTHR21004,hmmpanther:PTHR21004:SF0,Superfamily_domains:SSF50494	trypsin domain containing 1 isoform a				ENSP00000287078		4-Jan									COSM2149334	4-Jan	.		ENST00000287078	Transcript			proteolysis	peroxisome	serine-type endopeptidase activity	ENSG00000156521	g.chr10:71905207G>A	28531			MODERATE		0.39	neutral	getma.org/?cm=msa&ty=f&p=TYSD1_HUMAN&rb=357&re=496&var=A379V	getma.org/pdb.php?prot=TYSD1_HUMAN&from=357&to=496&var=A379V	getma.org/?cm=var&var=hg19,10,71905207,G,A&fts=all	A379V	--	--	1																																		TYSND1_uc001jqq.2_Intron|TYSND1_uc001jqs.2_Missense_Mutation_p.A379V|TYSND1_uc001jqt.2_Intron	1	1		benign(0.186)	p.A379V	NM_173555	NP_775826		tolerated(0.48)	1	TYSD1_HUMAN	TYSND1	HGNC	Q2T9J0	TYSD1_HUMAN					1	1290	-			UPI0000160C9B	379			Serine protease.		SNV	TYSND1,missense_variant,p.Ala379Val,ENST00000287078,NM_173555.3;TYSND1,missense_variant,p.Ala379Val,ENST00000335494,NM_001040273.2;SAR1A,downstream_gene_variant,,ENST00000373242,NM_001142648.1;SAR1A,downstream_gene_variant,,ENST00000373238,;SAR1A,downstream_gene_variant,,ENST00000373241,NM_020150.4;SAR1A,downstream_gene_variant,,ENST00000431664,;TYSND1,intron_variant,,ENST00000479086,;TYSND1,upstream_gene_variant,,ENST00000494143,;	uc001jqr.2	c.1136C>T	1136/3644	1	1			c.1136C>T						10	SNP	c.(1135-1137)GCC>GTC	59	59			large_intestine(1)	1	Broad	trypsin domain containing 1 isoform a			71905207		0.647	ENSG00000156521	16567	g.chr10:71905207G>A	proteolysis	peroxisome	serine-type endopeptidase activity							24.553079	KEEP	5	2	-1	0	1	5	2	-1	24.792368	0	1	0.875	1	0	0	0	0	1	0	0	0	--	--		0	A			TYSND1_uc001jqq.2_Intron|TYSND1_uc001jqs.2_Missense_Mutation_p.A379V|TYSND1_uc001jqt.2_Intron	12	GBM-06-0125-TP	p.A379V	G	CAGGACCCTGGCTGCTTCCCG	NM_173555	NP_775826	71905207	Q2T9J0	TYSD1_HUMAN	0			1	1290	-	A	A			Missense_Mutation	379			Serine protease.			
TYSND1	0	broad.mit.edu	GRCh37	10	71905229	71905229	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01	TCGA-32-4213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000287078.6:c.1114C>T	p.His372Tyr	p.H372Y	ENST00000287078	NM_173555.3	372	Cac/Tac	0			1			A	H/Y	uc001jqr.2	protein_coding	YES	CCDS31213.1			1114/1701									large_intestine(1)	1	c.(1114-1116)CAC>TAC			Gene3D:2.40.10.10,Pfam_domain:PF13365,PIRSF_domain:PIRSF037989,hmmpanther:PTHR21004,hmmpanther:PTHR21004:SF0,Superfamily_domains:SSF50494	trypsin domain containing 1 isoform a				ENSP00000287078		4-Jan									COSM3397221	4-Jan	.		ENST00000287078	Transcript			proteolysis	peroxisome	serine-type endopeptidase activity	ENSG00000156521	g.chr10:71905229G>A	28531			MODERATE		3.615	high	getma.org/?cm=msa&ty=f&p=TYSD1_HUMAN&rb=357&re=496&var=H372Y	getma.org/pdb.php?prot=TYSD1_HUMAN&from=357&to=496&var=H372Y	getma.org/?cm=var&var=hg19,10,71905229,G,A&fts=all	H372Y	--	--	1																																		TYSND1_uc001jqq.2_Intron|TYSND1_uc001jqs.2_Missense_Mutation_p.H372Y|TYSND1_uc001jqt.2_Intron	1	1		probably_damaging(1)	p.H372Y	NM_173555	NP_775826		deleterious(0)	1	TYSD1_HUMAN	TYSND1	HGNC	Q2T9J0	TYSD1_HUMAN					1	1268	-			UPI0000160C9B	372			Serine protease.	Charge relay system (By similarity).	SNV	TYSND1,missense_variant,p.His372Tyr,ENST00000287078,NM_173555.3;TYSND1,missense_variant,p.His372Tyr,ENST00000335494,NM_001040273.2;SAR1A,downstream_gene_variant,,ENST00000373242,NM_001142648.1;SAR1A,downstream_gene_variant,,ENST00000373238,;SAR1A,downstream_gene_variant,,ENST00000373241,NM_020150.4;SAR1A,downstream_gene_variant,,ENST00000431664,;TYSND1,intron_variant,,ENST00000479086,;TYSND1,upstream_gene_variant,,ENST00000494143,;	uc001jqr.2	c.1114C>T	1114/3644	2	2			c.1114C>T						10	SNP	c.(1114-1116)CAC>TAC	25	25			large_intestine(1)	1	Broad	trypsin domain containing 1 isoform a			71905229		0.677	ENSG00000156521	16567	g.chr10:71905229G>A	proteolysis	peroxisome	serine-type endopeptidase activity							21.025905	KEEP	5	3	-1	4	1	5	3	-1	21.098569	4	1	0.583333	1	0	0	0	0	1	0	0	0	--	--		0	A			TYSND1_uc001jqq.2_Intron|TYSND1_uc001jqs.2_Missense_Mutation_p.H372Y|TYSND1_uc001jqt.2_Intron	247	GBM-32-4213-TP	p.H372Y	G	GGGGACACGTGCCGACAGGTC	NM_173555	NP_775826	71905229	Q2T9J0	TYSD1_HUMAN	0			1	1268	-	A	A			Missense_Mutation	372			Serine protease.	Charge relay system (By similarity).		
TYW1	55253	broad.mit.edu	GRCh37	7	66482862	66482862	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-2565-01	TCGA-06-2565-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359626.5:c.593G>A	p.Trp198Ter	p.W198*	ENST00000359626	NM_018264.3	198	tGg/tAg	0			1			A	W/*	uc003tvn.2	protein_coding	YES	CCDS5538.1			593/2199									skin(1)	1	c.(592-594)TGG>TAG			Gene3D:3.40.50.360,Pfam_domain:PF00258,Prints_domain:PR00369,PROSITE_profiles:PS50902,hmmpanther:PTHR13930,hmmpanther:PTHR13930:SF0,Superfamily_domains:SSF52218	radical S-adenosyl methionine and flavodoxin				ENSP00000352645		16-Jun									COSM2153035	16-Jun	.		ENST00000359626	Transcript			tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	ENSG00000198874	g.chr7:66482862G>A	25598			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,66482862,G,A&fts=all	W198*	--	--	1																																		TYW1_uc010lai.2_RNA	1	1			p.W198*	NM_018264	NP_060734			1	TYW1_HUMAN	TYW1	HGNC	Q9NV66	TYW1_HUMAN			B4DW16_HUMAN		6	742	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	UPI00003674A9	198			FMN (By similarity).|Flavodoxin-like.		SNV	TYW1,stop_gained,p.Trp198Ter,ENST00000359626,NM_018264.3;TYW1,stop_gained,p.Trp133Ter,ENST00000442959,;TYW1,stop_gained,p.Trp198Ter,ENST00000361660,;	uc003tvn.2	c.593G>A	757/3348	5	2			c.593G>A						7	SNP	c.(592-594)TGG>TAG	44	44			skin(1)	1	Broad	radical S-adenosyl methionine and flavodoxin			66482862		0.512	ENSG00000198874	16568	g.chr7:66482862G>A	tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			1			1	183.570853	KEEP	33	36	-1	37	33	33	36	-1	183.570853	37	33	0.5	1	0	0	0	0	0	1	0	0	--	--		0	A			TYW1_uc010lai.2_RNA	88	GBM-06-2565-TP	p.W198*	G	GTTGACAAGTGGCTCTGGATG	NM_018264	NP_060734	66482862	Q9NV66	TYW1_HUMAN	0			6	742	+	A	A		Lung NSC(55;0.0846)|all_lung(88;0.183)	Nonsense_Mutation	198			FMN (By similarity).|Flavodoxin-like.			
U2SURP	0	broad.mit.edu	GRCh37	3	142741859	142741859	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-1829-01	TCGA-14-1829-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000473835.2:c.1183A>G	p.Asn395Asp	p.N395D	ENST00000473835	NM_001080415.1	395	Aat/Gat	0			1			G	N/D	uc003evh.1	protein_coding	YES	CCDS46928.1			1183/3090										0	c.(1183-1185)AAT>GAT			hmmpanther:PTHR23140	U2-associated SR140 protein				ENSP00000418563		28-Dec									COSM3408305	28-Dec	.		ENST00000473835	Transcript			RNA processing	nucleus	nucleotide binding|RNA binding	ENSG00000163714	g.chr3:142741859A>G	30855			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=SR140_HUMAN&rb=350&re=426&var=N395D	NA	getma.org/?cm=var&var=hg19,3,142741859,A,G&fts=all	N395D	--	--	1																																		SR140_uc003evi.1_5'UTR|SR140_uc011bnj.1_Missense_Mutation_p.N395D|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Missense_Mutation_p.N394D|SR140_uc003evl.1_5'Flank	1	1		benign(0.005)	p.N395D	NM_001080415	NP_001073884		tolerated(0.68)	1	SR140_HUMAN	U2SURP	HGNC	O15042	SR140_HUMAN			C9JDJ7_HUMAN,C9JB80_HUMAN,C9J5L1_HUMAN		12	1282	+			UPI0000160746	395			Pro-rich.		SNV	U2SURP,missense_variant,p.Asn395Asp,ENST00000473835,NM_001080415.1;U2SURP,missense_variant,p.Asn394Asp,ENST00000493598,;U2SURP,5_prime_UTR_variant,,ENST00000397933,;U2SURP,upstream_gene_variant,,ENST00000480029,;U2SURP,missense_variant,p.Asn397Asp,ENST00000463563,;U2SURP,missense_variant,p.Asn395Asp,ENST00000488497,;U2SURP,non_coding_transcript_exon_variant,,ENST00000461591,;U2SURP,non_coding_transcript_exon_variant,,ENST00000488587,;U2SURP,upstream_gene_variant,,ENST00000472373,;U2SURP,downstream_gene_variant,,ENST00000470400,;	uc003evh.1	c.1183A>G	1273/7276	4	4			c.1183A>G						3	SNP	c.(1183-1185)AAT>GAT	21	21				0	Broad	U2-associated SR140 protein			142741859		0.418	ENSG00000163714	14899	g.chr3:142741859A>G	RNA processing	nucleus	nucleotide binding|RNA binding	Colon(87;897 1320 15089 19747 35974)			Colon(87;897 1320 15089 19747 35974)			42.761673	KEEP	10	5	-1	13	17	10	5	-1	43.980776	13	17	0.317073	1	0	0	0	0	1	0	0	0	--	--		0	G			SR140_uc003evi.1_5'UTR|SR140_uc011bnj.1_Missense_Mutation_p.N395D|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Missense_Mutation_p.N394D|SR140_uc003evl.1_5'Flank	149	GBM-14-1829-TP	p.N395D	A	AAAAAACCCTAATGCTCCTAT	NM_001080415	NP_001073884	142741859	O15042	SR140_HUMAN	0			12	1282	+	G	G			Missense_Mutation	395			Pro-rich.			
U2SURP	0	broad.mit.edu	GRCh37	3	142773820	142773820	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5947-01	TCGA-19-5947-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000473835.2:c.2810G>A	p.Arg937His	p.R937H	ENST00000473835	NM_001080415.1	937	cGc/cAc	0			1			A	R/H	uc003evh.1	protein_coding	YES	CCDS46928.1			2810/3090										0	c.(2809-2811)CGC>CAC			hmmpanther:PTHR23140,Low_complexity_(Seg):seg	U2-associated SR140 protein				ENSP00000418563		27/28									COSM3408306	27/28	.		ENST00000473835	Transcript			RNA processing	nucleus	nucleotide binding|RNA binding	ENSG00000163714	g.chr3:142773820G>A	30855			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=SR140_HUMAN&rb=888&re=1029&var=R937H	NA	getma.org/?cm=var&var=hg19,3,142773820,G,A&fts=all	R937H	--	--	1																																		SR140_uc003evi.1_Missense_Mutation_p.R528H|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Missense_Mutation_p.R936H	1	1		unknown(0)	p.R937H	NM_001080415	NP_001073884		tolerated(0.12)	1	SR140_HUMAN	U2SURP	HGNC	O15042	SR140_HUMAN			C9JDJ7_HUMAN,C9JB80_HUMAN,C9J5L1_HUMAN		27	2909	+			UPI0000160746	937			Arg/Ser-rich.		SNV	U2SURP,missense_variant,p.Arg528His,ENST00000397933,;U2SURP,missense_variant,p.Arg937His,ENST00000473835,NM_001080415.1;U2SURP,missense_variant,p.Arg936His,ENST00000493598,;U2SURP,intron_variant,,ENST00000467348,;U2SURP,downstream_gene_variant,,ENST00000480029,;U2SURP,3_prime_UTR_variant,,ENST00000463563,;U2SURP,3_prime_UTR_variant,,ENST00000488497,;	uc003evh.1	c.2810G>A	2900/7276	2	2			c.2810G>A						3	SNP	c.(2809-2811)CGC>CAC	29	29				0	Broad	U2-associated SR140 protein			142773820		0.478	ENSG00000163714	14899	g.chr3:142773820G>A	RNA processing	nucleus	nucleotide binding|RNA binding	Colon(87;897 1320 15089 19747 35974)			Colon(87;897 1320 15089 19747 35974)			9.893438	KEEP	3	1	-1	7	9	3	1	-1	10.981391	7	9	0.235294	1	0	0	0	0	1	0	0	0	--	--		0	A			SR140_uc003evi.1_Missense_Mutation_p.R528H|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Missense_Mutation_p.R936H	169	GBM-19-5947-TP	p.R937H	G	AGCCCATCTCGCAGTAGCAGT	NM_001080415	NP_001073884	142773820	O15042	SR140_HUMAN	0			27	2909	+	A	A			Missense_Mutation	937			Arg/Ser-rich.			
U2SURP	0	broad.mit.edu	GRCh37	3	142731118	142731118	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-26-5133-01	TCGA-26-5133-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000473835.2:c.145A>G	p.Ser49Gly	p.S49G	ENST00000473835	NM_001080415.1	49	Agc/Ggc	0			1			G	S/G	uc003evh.1	protein_coding	YES	CCDS46928.1			145/3090										0	c.(145-147)AGC>GGC				U2-associated SR140 protein				ENSP00000418563		28-Mar									COSM3408303	28-Mar	.		ENST00000473835	Transcript			RNA processing	nucleus	nucleotide binding|RNA binding	ENSG00000163714	g.chr3:142731118A>G	30855			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=SR140_HUMAN&rb=1&re=70&var=S49G	NA	getma.org/?cm=var&var=hg19,3,142731118,A,G&fts=all	S49G	--	--	1																																		SR140_uc003evi.1_5'UTR|SR140_uc011bnj.1_Missense_Mutation_p.S49G|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Missense_Mutation_p.S49G	1	1		benign(0.004)	p.S49G	NM_001080415	NP_001073884		tolerated_low_confidence(0.27)	1	SR140_HUMAN	U2SURP	HGNC	O15042	SR140_HUMAN			C9JDJ7_HUMAN,C9JB80_HUMAN,C9J5L1_HUMAN		3	244	+			UPI0000160746	49					SNV	U2SURP,missense_variant,p.Ser49Gly,ENST00000473835,NM_001080415.1;U2SURP,missense_variant,p.Ser49Gly,ENST00000493598,;U2SURP,missense_variant,p.Ser29Gly,ENST00000600150,;U2SURP,missense_variant,p.Ser49Gly,ENST00000493782,;U2SURP,missense_variant,p.Ser19Gly,ENST00000465175,;U2SURP,5_prime_UTR_variant,,ENST00000397933,;U2SURP,missense_variant,p.Ser51Gly,ENST00000463563,;U2SURP,missense_variant,p.Ser49Gly,ENST00000488497,;U2SURP,missense_variant,p.Ser48Gly,ENST00000485374,;U2SURP,non_coding_transcript_exon_variant,,ENST00000461591,;U2SURP,non_coding_transcript_exon_variant,,ENST00000470400,;U2SURP,non_coding_transcript_exon_variant,,ENST00000491827,;U2SURP,upstream_gene_variant,,ENST00000488587,;	uc003evh.1	c.145A>G	235/7276	3	3			c.145A>G						3	SNP	c.(145-147)AGC>GGC	61	61				0	Broad	U2-associated SR140 protein			142731118		0.388	ENSG00000163714	14899	g.chr3:142731118A>G	RNA processing	nucleus	nucleotide binding|RNA binding	Colon(87;897 1320 15089 19747 35974)			Colon(87;897 1320 15089 19747 35974)			123.576201	KEEP	12	25	-1	21	22	12	25	-1	123.625442	21	22	0.471429	1	0	0	0	0	1	0	0	0	--	--		0	G			SR140_uc003evi.1_5'UTR|SR140_uc011bnj.1_Missense_Mutation_p.S49G|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Missense_Mutation_p.S49G	182	GBM-26-5133-TP	p.S49G	A	ACGACCTAAGAGCCCAAGAAA	NM_001080415	NP_001073884	142731118	O15042	SR140_HUMAN	0			3	244	+	G	G			Missense_Mutation	49						
UACA	0	broad.mit.edu	GRCh37	15	70957092	70957092	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-14-3476-01	TCGA-14-3476-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322954.6:c.4022T>A	p.Leu1341His	p.L1341H	ENST00000322954	NM_018003.2	1341	cTc/cAc	0			1			T	L/H	uc002asr.2	protein_coding	YES	CCDS10235.1			4022/4251									ovary(2)|pancreas(1)|skin(1)	4	c.(4021-4023)CTC>CAC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24196,hmmpanther:PTHR24196:SF1,PROSITE_profiles:PS50192	uveal autoantigen with coiled-coil domains and				ENSP00000314556		17/19									COSM3401894,COSM3401893	17/19	.		ENST00000322954	Transcript				cytoskeleton|extracellular region		ENSG00000137831	g.chr15:70957092A>T	15947			MODERATE		2.36	medium	getma.org/?cm=msa&ty=f&p=UACA_HUMAN&rb=886&re=1374&var=L1341H	NA	getma.org/?cm=var&var=hg19,15,70957092,A,T&fts=all	L1341H	--	--	1																																		UACA_uc010uke.1_Missense_Mutation_p.L1232H|UACA_uc002asq.2_Missense_Mutation_p.L1328H	1,1	1		probably_damaging(0.993)	p.L1341H	NM_018003	NP_060473		deleterious(0)	1,1	UACA_HUMAN	UACA	HGNC	Q9BZF9	UACA_HUMAN					17	4126	-			UPI000006DCF3	1341			Potential.		SNV	UACA,missense_variant,p.Leu1341His,ENST00000322954,NM_018003.2;UACA,missense_variant,p.Leu1328His,ENST00000379983,NM_001008224.1;UACA,missense_variant,p.Leu1326His,ENST00000560441,;UACA,missense_variant,p.Leu1232His,ENST00000539319,;UACA,downstream_gene_variant,,ENST00000558758,;UACA,non_coding_transcript_exon_variant,,ENST00000560831,;UACA,upstream_gene_variant,,ENST00000559206,;UACA,downstream_gene_variant,,ENST00000559290,;	uc002asr.2	c.4022T>A	4208/6939	2	2			c.4022T>A						15	SNP	c.(4021-4023)CTC>CAC	32	32			ovary(2)|pancreas(1)|skin(1)	4	Broad	uveal autoantigen with coiled-coil domains and			70957092		0.433	ENSG00000137831	16573	g.chr15:70957092A>T		cytoskeleton|extracellular region								120.324587	KEEP	20	25	-1	24	30	20	25	-1	120.485012	24	30	0.453488	1	0	0	0	0	1	0	0	0	--	--		0	T			UACA_uc010uke.1_Missense_Mutation_p.L1232H|UACA_uc002asq.2_Missense_Mutation_p.L1328H	151	GBM-14-3476-TP	p.L1341H	A	TGTGTAGGTGAGTTGGGAAAG	NM_018003	NP_060473	70957092	Q9BZF9	UACA_HUMAN	0			17	4126	-	T	T			Missense_Mutation	1341			Potential.			
UACA	0	broad.mit.edu	GRCh37	15	70970467	70970467	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs145715387		TCGA-19-2623-01	TCGA-19-2623-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322954.6:c.970G>A	p.Val324Ile	p.V324I	ENST00000322954	NM_018003.2	324	Gtc/Atc	0			1			T	V/I	uc002asr.2	protein_coding	YES	CCDS10235.1			970/4251									ovary(2)|pancreas(1)|skin(1)	4	c.(970-972)GTC>ATC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24196,hmmpanther:PTHR24196:SF1	uveal autoantigen with coiled-coil domains and				ENSP00000314556		19-Nov									COSM3401898,COSM3401897	19-Nov	.		ENST00000322954	Transcript				cytoskeleton|extracellular region		ENSG00000137831	g.chr15:70970467C>T	15947			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=UACA_HUMAN&rb=275&re=884&var=V324I	NA	getma.org/?cm=var&var=hg19,15,70970467,C,T&fts=all	V324I	--	--	1																																		UACA_uc010uke.1_Missense_Mutation_p.V215I|UACA_uc002asq.2_Missense_Mutation_p.V311I|UACA_uc010bin.1_Missense_Mutation_p.V310I	1,1	1		benign(0.021)	p.V324I	NM_018003	NP_060473		tolerated(0.34)	1,1	UACA_HUMAN	UACA	HGNC	Q9BZF9	UACA_HUMAN					11	1074	-			UPI000006DCF3	324			Potential.		SNV	UACA,missense_variant,p.Val324Ile,ENST00000322954,NM_018003.2;UACA,missense_variant,p.Val311Ile,ENST00000379983,NM_001008224.1;UACA,missense_variant,p.Val311Ile,ENST00000560441,;UACA,missense_variant,p.Val215Ile,ENST00000539319,;UACA,missense_variant,p.Val311Ile,ENST00000558758,;UACA,downstream_gene_variant,,ENST00000559183,;UACA,non_coding_transcript_exon_variant,,ENST00000560523,;UACA,non_coding_transcript_exon_variant,,ENST00000558308,;UACA,non_coding_transcript_exon_variant,,ENST00000559156,;UACA,non_coding_transcript_exon_variant,,ENST00000560951,;	uc002asr.2	c.970G>A	1156/6939	2	2			c.970G>A						15	SNP	c.(970-972)GTC>ATC	21	21			ovary(2)|pancreas(1)|skin(1)	4	Broad	uveal autoantigen with coiled-coil domains and			70970467		0.284	ENSG00000137831	16573	g.chr15:70970467C>T		cytoskeleton|extracellular region								55.123383	KEEP	11	15	-1	62	45	11	15	-1	65.582778	62	45	0.196721	1	0	0	0	0	1	0	0	0	--	--		0	T			UACA_uc010uke.1_Missense_Mutation_p.V215I|UACA_uc002asq.2_Missense_Mutation_p.V311I|UACA_uc010bin.1_Missense_Mutation_p.V310I	163	GBM-19-2623-TP	p.V324I	C	AAACCATTGACTTTATCCAAA	NM_018003	NP_060473	70970467	Q9BZF9	UACA_HUMAN	0			11	1074	-	T	T			Missense_Mutation	324			Potential.			
UACA	55075		GRCh37	15	70959297	70959297	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000322954.6:c.3726C>G	p.Ser1242Arg	p.S1242R	ENST00000322954	NM_018003.2	1242	agC/agG	0																																																																																																																																																																																																																																												
UBA1	0	broad.mit.edu	GRCh37	X	47069360	47069360	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-26-5136-01	TCGA-26-5136-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335972.6:c.2037G>C	p.Leu679=	p.L679=	ENST00000335972	NM_003334.3	679	ctG/ctC	0			1			C	L	uc004dhj.3	protein_coding	YES	CCDS14275.1			2037/3177									ovary(1)	1	c.(2035-2037)CTG>CTC			Gene3D:1y8qD02,hmmpanther:PTHR10953,hmmpanther:PTHR10953:SF136,Superfamily_domains:SSF69572,TIGRFAM_domain:TIGR01408	ubiquitin-activating enzyme E1				ENSP00000338413		18/26									COSM2157121,COSM2157122	18/26	.		ENST00000335972	Transcript	1		cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	ENSG00000130985	g.chrX:47069360G>C	12469			LOW								--	--	1																																		UBA1_uc004dhk.3_Silent_p.L679L|UBA1_uc004dhm.2_Silent_p.L127L	1,1	1			p.L679L	NM_153280	NP_695012			1,1	UBA1_HUMAN	UBA1	HGNC	P22314	UBA1_HUMAN			Q712V1_HUMAN,Q5JRR9_HUMAN,B4DDE4_HUMAN		18	2188	+			UPI0000137946	679					SNV	UBA1,synonymous_variant,p.=,ENST00000335972,NM_003334.3;UBA1,synonymous_variant,p.=,ENST00000377351,NM_153280.2;UBA1,synonymous_variant,p.=,ENST00000377269,;INE1,downstream_gene_variant,,ENST00000456273,;UBA1,downstream_gene_variant,,ENST00000490869,;	uc004dhj.3	c.2037G>C	2220/3559	3	3			c.2037G>C						23	SNP	c.(2035-2037)CTG>CTC	12	12			ovary(1)	1	Broad	ubiquitin-activating enzyme E1			47069360		0.607	ENSG00000130985	16576	g.chrX:47069360G>C	cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity							232.126711	KEEP	56	52	-1	81	102	56	52	-1	234.182727	81	102	0.390863	1	0	0	0	0	0	0	1	0	--	--		0	C			UBA1_uc004dhk.3_Silent_p.L679L|UBA1_uc004dhm.2_Silent_p.L127L	185	GBM-26-5136-TP	p.L679L	G	CACTGCGGCTGGCAGGCACTC	NM_153280	NP_695012	47069360	P22314	UBA1_HUMAN	0			18	2188	+	C	C			Silent	679						
UBA3	9039		GRCh37	3	69120763	69120763	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000361055.4:c.270G>A	p.Leu90=	p.L90=	ENST00000361055	NM_003968.3	90	ttG/ttA	0																																																																																																																																																																																																																																												
UBA5	0	broad.mit.edu	GRCh37	3	132390695	132390695	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-41-3393-01	TCGA-41-3393-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356232.4:c.654T>C	p.Leu218=	p.L218=	ENST00000356232	NM_024818.3	218	ctT/ctC	0			1			C	L	uc003epa.3	protein_coding	YES	CCDS3076.1			654/1215									kidney(1)	1	c.(652-654)CTT>CTC			Superfamily_domains:SSF69572,Gene3D:3.40.50.720,hmmpanther:PTHR10953,hmmpanther:PTHR10953:SF9	ubiquitin-activating enzyme 5 isoform 1				ENSP00000348565		12-Jul									COSM3408246	12-Jul	.		ENST00000356232	Transcript			protein ufmylation	aggresome|cytoplasm|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity	ENSG00000081307	g.chr3:132390695T>C	23230			LOW								--	--	1																																		NPHP3_uc003eoz.1_Intron|UBA5_uc010htr.2_Silent_p.L162L|UBA5_uc010htt.2_Silent_p.L218L|UBA5_uc003epb.3_Silent_p.L162L	1	1			p.L218L	NM_024818	NP_079094			1	UBA5_HUMAN	UBA5	HGNC	Q9GZZ9	UBA5_HUMAN			E7EQ61_HUMAN,C9J5W5_HUMAN,C9J0F6_HUMAN		7	896	+			UPI0000037C4F	218					SNV	UBA5,synonymous_variant,p.=,ENST00000356232,NM_024818.3;UBA5,synonymous_variant,p.=,ENST00000494238,;UBA5,synonymous_variant,p.=,ENST00000264991,NM_198329.2;UBA5,synonymous_variant,p.=,ENST00000493720,;UBA5,synonymous_variant,p.=,ENST00000473651,;UBA5,downstream_gene_variant,,ENST00000468022,;UBA5,downstream_gene_variant,,ENST00000464068,;UBA5,downstream_gene_variant,,ENST00000489361,;UBA5,non_coding_transcript_exon_variant,,ENST00000468227,;UBA5,non_coding_transcript_exon_variant,,ENST00000469158,;NPHP3,intron_variant,,ENST00000471702,;UBA5,downstream_gene_variant,,ENST00000505777,;UBA5,upstream_gene_variant,,ENST00000494112,;	uc003epa.3	c.654T>C	1726/3705	3	3			c.654T>C						3	SNP	c.(652-654)CTT>CTC	62	62			kidney(1)	1	Broad	ubiquitin-activating enzyme 5 isoform 1			132390695		0.368	ENSG00000081307	16579	g.chr3:132390695T>C	protein ufmylation	aggresome|cytoplasm|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity							-51.698776	KEEP	0	5	-1	126	132	0	5	-1	8.46087	126	132	0.017467	1	0	0	0	0	0	0	1	0	--	--		0	C			NPHP3_uc003eoz.1_Intron|UBA5_uc010htr.2_Silent_p.L162L|UBA5_uc010htt.2_Silent_p.L218L|UBA5_uc003epb.3_Silent_p.L162L	255	GBM-41-3393-TP	p.L218L	T	ATATACAGCTTATAATTCCTG	NM_024818	NP_079094	132390695	Q9GZZ9	UBA5_HUMAN	0			7	896	+	C	C			Silent	218						
UBA52	0	broad.mit.edu	GRCh37	19	18684505	18684505	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000430157.2:c.137C>T	p.Ala46Val	p.A46V	ENST00000430157	NM_003333.3	46	gCc/gTc	0			1			T	A/V	uc002njr.2	protein_coding		CCDS12382.1			137/387										0	c.(136-138)GCC>GTC			PROSITE_profiles:PS50053,hmmpanther:PTHR10666,PROSITE_patterns:PS00299,Gene3D:3.10.20.90,Pfam_domain:PF00240,SMART_domains:SM00213,Superfamily_domains:SSF54236,Prints_domain:PR00348	ubiquitin and ribosomal protein L40 precursor				ENSP00000396910		5-Mar									COSM3403964	5-Mar	.		ENST00000430157	Transcript			activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome	ENSG00000221983	g.chr19:18684505C>T	12458			MODERATE		2.27	medium	getma.org/?cm=msa&ty=f&p=RL40_HUMAN&rb=6&re=74&var=A46V	getma.org/pdb.php?prot=RL40_HUMAN&from=6&to=74&var=A46V	getma.org/?cm=var&var=hg19,19,18684505,C,T&fts=all	A46V	--	--	1																																		UBA52_uc002njs.2_Missense_Mutation_p.A46V|UBA52_uc002njt.2_Missense_Mutation_p.A46V	1			benign(0.003)	p.A46V	NM_001033930	NP_001029102		tolerated(0.14)	1	RL40_HUMAN	UBA52	HGNC	P62987	RL40_HUMAN			Q3MIH3_HUMAN,M0R1V7_HUMAN,J3QSA3_HUMAN,F5GZ39_HUMAN,A8CGI2_HUMAN		3	251	+			UPI0000021092	46			Ubiquitin-like.		SNV	UBA52,missense_variant,p.Ala46Val,ENST00000442744,NM_001033930.1;UBA52,missense_variant,p.Ala46Val,ENST00000599256,;UBA52,missense_variant,p.Ala46Val,ENST00000595683,;UBA52,missense_variant,p.Ala46Val,ENST00000596273,;UBA52,missense_variant,p.Ala46Val,ENST00000595158,;UBA52,missense_variant,p.Ala46Val,ENST00000599551,;UBA52,missense_variant,p.Ala46Val,ENST00000599595,;UBA52,missense_variant,p.Ala46Val,ENST00000598780,;UBA52,missense_variant,p.Ala46Val,ENST00000430157,NM_003333.3;UBA52,missense_variant,p.Ala46Val,ENST00000596304,;UBA52,missense_variant,p.Ala46Val,ENST00000597451,;UBA52,missense_variant,p.Ala28Val,ENST00000596272,;UBA52,missense_variant,p.Ala21Val,ENST00000594527,;KXD1,downstream_gene_variant,,ENST00000602094,;KXD1,downstream_gene_variant,,ENST00000540691,NM_001171948.1;KXD1,downstream_gene_variant,,ENST00000539106,NM_001171949.1;KXD1,downstream_gene_variant,,ENST00000222307,NM_024069.3;KXD1,downstream_gene_variant,,ENST00000601630,;KXD1,downstream_gene_variant,,ENST00000595073,;KXD1,downstream_gene_variant,,ENST00000599319,;KXD1,downstream_gene_variant,,ENST00000600099,;AC005253.4,upstream_gene_variant,,ENST00000593791,;CRLF1,intron_variant,,ENST00000594325,;UBA52,non_coding_transcript_exon_variant,,ENST00000598814,;KXD1,downstream_gene_variant,,ENST00000600654,;	uc002njr.2	c.137C>T	231/572	2	2			c.137C>T						19	SNP	c.(136-138)GCC>GTC	21	21				0	Broad	ubiquitin and ribosomal protein L40 precursor			18684505		0.597	ENSG00000221983	16580	g.chr19:18684505C>T	activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome							-50.018931	KEEP	5	2	-1	116	154	5	2	-1	7.014843	116	154	0.022321	1	0	0	0	0	1	0	0	0	--	--		0	T			UBA52_uc002njs.2_Missense_Mutation_p.A46V|UBA52_uc002njt.2_Missense_Mutation_p.A46V	218	GBM-28-5209-TP	p.A46V	C	CTGATATTTGCCGGCAAACAG	NM_001033930	NP_001029102	18684505	P62987	RL40_HUMAN	0			3	251	+	T	T			Missense_Mutation	46			Ubiquitin-like.			
UBA6	0	broad.mit.edu	GRCh37	4	68543331	68543331	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T			TCGA-32-4210-01	TCGA-32-4210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322244.5:c.463C>A	p.Gln155Lys	p.Q155K	ENST00000322244	NM_018227.5	155	Cag/Aag	0			1			T	Q/K	uc003hdg.3	protein_coding	YES	CCDS3516.1			463/3159										0	c.(463-465)CAG>AAG			hmmpanther:PTHR10953,hmmpanther:PTHR10953:SF141,Gene3D:3.40.50.720,TIGRFAM_domain:TIGR01408,Pfam_domain:PF00899,Superfamily_domains:SSF69572	ubiquitin-activating enzyme E1-like 2				ENSP00000313454		Jun-33									COSM3409409	Jun-33	.		ENST00000322244	Transcript			protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	ENSG00000033178	g.chr4:68543331G>T	25581			MODERATE		2.06	medium	getma.org/?cm=msa&ty=f&p=UBA6_HUMAN&rb=60&re=198&var=Q155K	getma.org/pdb.php?prot=UBA6_HUMAN&from=60&to=198&var=Q155K	getma.org/?cm=var&var=hg19,4,68543331,G,T&fts=all	Q155K	--	--	1																																		UBA6_uc003hdi.2_Missense_Mutation_p.Q155K|UBA6_uc003hdj.2_Missense_Mutation_p.Q155K	1	1		benign(0.309)	p.Q155K	NM_018227	NP_060697		tolerated(0.11)	1	UBA6_HUMAN	UBA6	HGNC	A0AVT1	UBA6_HUMAN			B3KSS1_HUMAN		6	515	-			UPI000004A4F7	155					SNV	UBA6,missense_variant,p.Gln155Lys,ENST00000322244,NM_018227.5;UBA6,missense_variant,p.Gln155Lys,ENST00000420827,;UBA6,splice_region_variant,,ENST00000429659,;UBA6,downstream_gene_variant,,ENST00000506571,;	uc003hdg.3	c.463C>A	523/9564	1	1			c.463C>A						4	SNP	c.(463-465)CAG>AAG	5	5				0	Broad	ubiquitin-activating enzyme E1-like 2			68543331		0.308	ENSG00000033178	16581	g.chr4:68543331G>T	protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding							159.079751	KEEP	30	34	0.46875	72	58	30	34	0.46875	164.004187	72	58	0.324022	1	0	0	0	0	1	0	0	0	--	--		0	T			UBA6_uc003hdi.2_Missense_Mutation_p.Q155K|UBA6_uc003hdj.2_Missense_Mutation_p.Q155K	245	GBM-32-4210-TP	p.Q155K	G	GTACTAACCTGGTATTTATCT	NM_018227	NP_060697	68543331	A0AVT1	UBA6_HUMAN	0			6	515	-	T	T			Missense_Mutation	155						
UBA7	7318	broad.mit.edu	GRCh37	3	49847050	49847050	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6390-01	TCGA-06-6390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333486.3:c.2013G>A	p.Ala671=	p.A671=	ENST00000333486	NM_003335.2	671	gcG/gcA	0			1			T	A	uc003cxr.2	protein_coding	YES	CCDS2805.1			2013/3039									ovary(1)|pancreas(1)	2	c.(2011-2013)GCG>GCA			Gene3D:1y8qD02,Prints_domain:PR01849,hmmpanther:PTHR10953,hmmpanther:PTHR10953:SF143,Superfamily_domains:SSF69572,TIGRFAM_domain:TIGR01408	ubiquitin-like modifier activating enzyme 7				ENSP00000333266		16/24	3.29E-05	9.62E-05		0.000116		1.50E-05		6.06E-05	rs766026076,COSM2153429	16/24	.		ENST00000333486	Transcript			ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	ENSG00000182179	g.chr3:49847050C>T	12471			LOW								--	--	1																																			0,1	1			p.A671A	NM_003335	NP_003326			0,1	UBA7_HUMAN	UBA7	HGNC	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)			16	2184	-			UPI000006E3F8	671					SNV	UBA7,synonymous_variant,p.=,ENST00000333486,NM_003335.2;FAM212A,downstream_gene_variant,,ENST00000333323,NM_203370.1;MIR5193,upstream_gene_variant,,ENST00000584510,;UBA7,downstream_gene_variant,,ENST00000494212,;UBA7,non_coding_transcript_exon_variant,,ENST00000483751,;UBA7,non_coding_transcript_exon_variant,,ENST00000488536,;UBA7,non_coding_transcript_exon_variant,,ENST00000478875,;UBA7,non_coding_transcript_exon_variant,,ENST00000473992,;UBA7,downstream_gene_variant,,ENST00000460703,;UBA7,downstream_gene_variant,,ENST00000478688,;UBA7,upstream_gene_variant,,ENST00000497908,;UBA7,downstream_gene_variant,,ENST00000460516,;UBA7,downstream_gene_variant,,ENST00000489826,;	uc003cxr.2	c.2013G>A	2172/3299	1	1			c.2013G>A						3	SNP	c.(2011-2013)GCG>GCA	4	4			ovary(1)|pancreas(1)	2	Broad	ubiquitin-like modifier activating enzyme 7			49847050		0.547	ENSG00000182179	16582	g.chr3:49847050C>T	ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity							77.690444	KEEP	17	20	-1	72	78	17	20	-1	93.388316	72	78	0.196721	1	0	0	0	0	0	0	1	0	--	--		0	T				106	GBM-06-6390-TP	p.A671A	C	CAAGAGCCCACGCCACACAGT	NM_003335	NP_003326	49847050	P41226	UBA7_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	16	2184	-	T	T			Silent	671						
UBA7	7318		GRCh37	3	49849871	49849871	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01	TCGA-28-2501-01																				ENST00000333486.3:c.664G>A	p.Asp222Asn	p.D222N	ENST00000333486	NM_003335.2	222	Gac/Aac	0																																																																																																																																																																																																																																												
UBAP1	0	broad.mit.edu	GRCh37	9	34234331	34234331	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-12-5295-01	TCGA-12-5295-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297661.4:c.153delA	p.Val52TyrfsTer39	p.V52Yfs*39	ENST00000297661	NM_016525.4	51	gAa/ga	0			1			-	E/X	uc003ztx.2	protein_coding		CCDS6550.1			152/1509										0	c.(151-153)GAAfs			PROSITE_profiles:PS51497,hmmpanther:PTHR15960,hmmpanther:PTHR15960:SF2	ubiquitin associated protein 1				ENSP00000297661		7-Mar										7-Mar	.		ENST00000297661	Transcript				cytoplasm		ENSG00000165006	g.chr9:34234331delA	12461	1		HIGH								--	--	1																																		UBAP1_uc010mka.1_Intron|UBAP1_uc003zty.2_Frame_Shift_Del_p.E51fs|UBAP1_uc011loi.1_Intron|UBAP1_uc011loj.1_Frame_Shift_Del_p.E115fs|KIF24_uc010mkb.2_Intron|UBAP1_uc003ztz.2_Frame_Shift_Del_p.E51fs					p.E51fs	NM_016525	NP_057609				UBAP1_HUMAN	UBAP1	HGNC	Q9NZ09	UBAP1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00272)				3	387	+			UPI0000073E7F	51			UMA.		deletion	UBAP1,frameshift_variant,p.Val52TyrfsTer39,ENST00000536252,NM_001171203.2;UBAP1,frameshift_variant,p.Val52TyrfsTer39,ENST00000540348,NM_001171204.2;UBAP1,frameshift_variant,p.Val52TyrfsTer39,ENST00000297661,NM_016525.4;UBAP1,frameshift_variant,p.Val116TyrfsTer39,ENST00000545103,NM_001171201.1;UBAP1,frameshift_variant,p.Val52TyrfsTer39,ENST00000359544,;UBAP1,frameshift_variant,p.Val52TyrfsTer39,ENST00000379186,;UBAP1,intron_variant,,ENST00000543944,NM_001171202.1;	uc003ztx.2	c.152delA	387/2735	5	5			c.152delA						9	DEL	c.(151-153)GAAfs	4	4				0	Broad	ubiquitin associated protein 1			34234331		0.318	ENSG00000165006	16585	g.chr9:34234331delA		cytoplasm		NSCLC(109;1074 1634 14978 20375 39620)			NSCLC(109;1074 1634 14978 20375 39620)																0.29	1	1	0	1	0	0	0	0	0	--	--		0	-			UBAP1_uc010mka.1_Intron|UBAP1_uc003zty.2_Frame_Shift_Del_p.E51fs|UBAP1_uc011loi.1_Intron|UBAP1_uc011loj.1_Frame_Shift_Del_p.E115fs|KIF24_uc010mkb.2_Intron|UBAP1_uc003ztz.2_Frame_Shift_Del_p.E51fs	129	GBM-12-5295-TP	p.E51fs	A	GTTGTCAGAGAAGTACAGGTA	NM_016525	NP_057609	34234331	Q9NZ09	UBAP1_HUMAN	0	LUSC - Lung squamous cell carcinoma(29;0.00272)		3	387	+	-	-			Frame_Shift_Del	51			UMA.			
UBAP2	55833	broad.mit.edu	GRCh37	9	33923830	33923830	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0211-01	TCGA-06-0211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379238.1:c.2759G>A	p.Gly920Asp	p.G920D	ENST00000379238		920	gGc/gAc	0			1			T	G/D	uc003ztq.1	protein_coding		CCDS6547.1			2759/3360									ovary(3)	3	c.(2758-2760)GGC>GAC			hmmpanther:PTHR16308,hmmpanther:PTHR16308:SF17	ubiquitin associated protein 2				ENSP00000354039		24/29									COSM3413618	24/29	.		ENST00000360802	Transcript						ENSG00000137073	g.chr9:33923830C>T	14185			MODERATE		2.565	medium	getma.org/?cm=msa&ty=f&p=UBAP2_HUMAN&rb=745&re=944&var=G920D	NA	getma.org/?cm=var&var=hg19,9,33923830,C,T&fts=all	G920D	--	--	1																																		UBAP2_uc011loc.1_Missense_Mutation_p.G829D|UBAP2_uc011lod.1_Missense_Mutation_p.G653D|UBAP2_uc011loe.1_Missense_Mutation_p.G675D|UBAP2_uc011lof.1_Missense_Mutation_p.G845D|UBAP2_uc003ztn.1_Missense_Mutation_p.G159D|UBAP2_uc003zto.1_Missense_Mutation_p.G159D|UBAP2_uc003ztp.1_Missense_Mutation_p.G159D	1			unknown(0)	p.G920D	NM_018449	NP_060919		deleterious(0)	1	UBAP2_HUMAN	UBAP2	HGNC	Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	Q5JV03_HUMAN		24	2872	-			UPI0000140784	920					SNV	UBAP2,missense_variant,p.Gly920Asp,ENST00000379238,;UBAP2,missense_variant,p.Gly920Asp,ENST00000360802,NM_018449.2;UBAP2,missense_variant,p.Gly920Asp,ENST00000449054,;UBAP2,missense_variant,p.Gly653Asp,ENST00000379239,NM_001282529.1;UBAP2,missense_variant,p.Gly675Asp,ENST00000539807,;UBAP2,missense_variant,p.Gly159Asp,ENST00000379235,;UBE2R2,downstream_gene_variant,,ENST00000263228,NM_017811.3;UBAP2,downstream_gene_variant,,ENST00000418786,;UBAP2,non_coding_transcript_exon_variant,,ENST00000474372,;UBAP2,downstream_gene_variant,,ENST00000488443,;	uc003ztq.1	c.2759G>A	2872/4284	2	2			c.2759G>A						9	SNP	c.(2758-2760)GGC>GAC	47	47			ovary(3)	3	Broad	ubiquitin associated protein 2			33923830		0.567	ENSG00000137073	16586	g.chr9:33923830C>T										-25.009974	KEEP	2	2	-1	76	70	2	2	-1	7.220505	76	70	0.030075	1	0	0	0	0	1	0	0	0	--	--		0	T			UBAP2_uc011loc.1_Missense_Mutation_p.G829D|UBAP2_uc011lod.1_Missense_Mutation_p.G653D|UBAP2_uc011loe.1_Missense_Mutation_p.G675D|UBAP2_uc011lof.1_Missense_Mutation_p.G845D|UBAP2_uc003ztn.1_Missense_Mutation_p.G159D|UBAP2_uc003zto.1_Missense_Mutation_p.G159D|UBAP2_uc003ztp.1_Missense_Mutation_p.G159D	48	GBM-06-0211-TP	p.G920D	C	ACTGGGCATGCCTGTGTAGTA	NM_018449	NP_060919	33923830	Q5T6F2	UBAP2_HUMAN	0	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	24	2872	-	T	T			Missense_Mutation	920						
UBAP2L	0	broad.mit.edu	GRCh37	1	154207187	154207187	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01	TCGA-76-4927-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361546.2:c.400C>T	p.Arg134Cys	p.R134C	ENST00000361546		134	Cgt/Tgt	0			1			T	R/C	uc001fep.3	protein_coding		CCDS1063.1			400/3264									ovary(1)|central_nervous_system(1)	2	c.(400-402)CGT>TGT			hmmpanther:PTHR16308,hmmpanther:PTHR16308:SF18,Low_complexity_(Seg):seg	ubiquitin associated protein 2-like isoform a				ENSP00000355343		26-Apr									COSM2208677,COSM3399776,COSM2208678	26-Apr	.		ENST00000361546	Transcript			binding of sperm to zona pellucida		protein binding	ENSG00000143569	g.chr1:154207187C>T	29877			MODERATE		2.165	medium	getma.org/?cm=msa&ty=f&p=UBP2L_HUMAN&rb=1&re=200&var=R134C	NA	getma.org/?cm=var&var=hg19,1,154207187,C,T&fts=all	R134C	--	--	1																																		UBAP2L_uc009wot.2_Missense_Mutation_p.R134C|UBAP2L_uc010pek.1_Missense_Mutation_p.R133C|UBAP2L_uc010pel.1_Missense_Mutation_p.R133C|UBAP2L_uc001fen.1_Missense_Mutation_p.R133C|UBAP2L_uc010pem.1_Missense_Mutation_p.R133C|UBAP2L_uc010pen.1_Missense_Mutation_p.R37C	1,1,1			unknown(0)	p.R134C	NM_014847	NP_055662		deleterious(0)	1,1,1	UBP2L_HUMAN	UBAP2L	HGNC	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		Q5VU81_HUMAN,Q5VU80_HUMAN,Q5VU78_HUMAN		5	567	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		UPI000013E257	134					SNV	UBAP2L,missense_variant,p.Arg134Cys,ENST00000428931,NM_014847.3;UBAP2L,missense_variant,p.Arg134Cys,ENST00000361546,;UBAP2L,missense_variant,p.Arg134Cys,ENST00000271877,NM_001287816.1;UBAP2L,missense_variant,p.Arg134Cys,ENST00000343815,NM_001127320.1,NM_001287815.1;UBAP2L,missense_variant,p.Arg134Cys,ENST00000368504,;UBAP2L,missense_variant,p.Arg134Cys,ENST00000412596,;UBAP2L,missense_variant,p.Arg134Cys,ENST00000437652,;UBAP2L,missense_variant,p.Arg134Cys,ENST00000456325,;UBAP2L,missense_variant,p.Arg134Cys,ENST00000441890,;	uc001fep.3	c.400C>T	442/3864	2	2			c.400C>T						1	SNP	c.(400-402)CGT>TGT	17	17			ovary(1)|central_nervous_system(1)	2	Broad	ubiquitin associated protein 2-like isoform a			154207187		0.552	ENSG00000143569	16587	g.chr1:154207187C>T	binding of sperm to zona pellucida		protein binding							27.040316	KEEP	7	5	-1	18	12	7	5	-1	28.844253	18	12	0.275	1	0	0	0	0	1	0	0	0	--	--		0	T			UBAP2L_uc009wot.2_Missense_Mutation_p.R134C|UBAP2L_uc010pek.1_Missense_Mutation_p.R133C|UBAP2L_uc010pel.1_Missense_Mutation_p.R133C|UBAP2L_uc001fen.1_Missense_Mutation_p.R133C|UBAP2L_uc010pem.1_Missense_Mutation_p.R133C|UBAP2L_uc010pen.1_Missense_Mutation_p.R37C	267	GBM-76-4927-TP	p.R134C	C	TAGTCGGCGACGTGGTGGGCC	NM_014847	NP_055662	154207187	Q14157	UBP2L_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.185)		5	567	+	T	T	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		Missense_Mutation	134						
UBAP2L	0	broad.mit.edu	GRCh37	1	154242707	154242707	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01	TCGA-76-4928-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361546.2:c.3200C>T	p.Ser1067Phe	p.S1067F	ENST00000361546		1067	tCc/tTc	0			1			T	S/F	uc001fep.3	protein_coding		CCDS1063.1			3200/3264									ovary(1)|central_nervous_system(1)	2	c.(3199-3201)TCC>TTC			hmmpanther:PTHR16308,hmmpanther:PTHR16308:SF18,Low_complexity_(Seg):seg	ubiquitin associated protein 2-like isoform a				ENSP00000355343		26/26									COSM3399777,COSM3399778	26/26	.		ENST00000361546	Transcript			binding of sperm to zona pellucida		protein binding	ENSG00000143569	g.chr1:154242707C>T	29877			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=UBP2L_HUMAN&rb=927&re=1087&var=S1067F	NA	getma.org/?cm=var&var=hg19,1,154242707,C,T&fts=all	S1067F	--	--	1																																		UBAP2L_uc010pel.1_Intron|UBAP2L_uc001feq.2_Intron|UBAP2L_uc001fer.2_Missense_Mutation_p.S280F|HAX1_uc001fet.2_5'Flank|HAX1_uc001fes.2_5'Flank|HAX1_uc010peo.1_5'Flank|HAX1_uc009wou.2_5'Flank|HAX1_uc009wov.2_5'Flank	1,1			probably_damaging(0.991)	p.S1067F	NM_014847	NP_055662		deleterious(0)	1,1	UBP2L_HUMAN	UBAP2L	HGNC	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		Q5VU81_HUMAN,Q5VU80_HUMAN,Q5VU78_HUMAN		27	3367	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		UPI000013E257	1067					SNV	UBAP2L,missense_variant,p.Ser1067Phe,ENST00000428931,NM_014847.3;UBAP2L,missense_variant,p.Ser1067Phe,ENST00000361546,;UBAP2L,missense_variant,p.Ser363Phe,ENST00000428595,;UBAP2L,intron_variant,,ENST00000271877,NM_001287816.1;UBAP2L,intron_variant,,ENST00000433615,;HAX1,upstream_gene_variant,,ENST00000328703,NM_006118.3;HAX1,upstream_gene_variant,,ENST00000483970,;HAX1,upstream_gene_variant,,ENST00000457918,NM_001018837.1;HAX1,upstream_gene_variant,,ENST00000435087,;HAX1,upstream_gene_variant,,ENST00000532105,;UBAP2L,intron_variant,,ENST00000493867,;UBAP2L,downstream_gene_variant,,ENST00000484819,;HAX1,upstream_gene_variant,,ENST00000531435,;HAX1,upstream_gene_variant,,ENST00000471326,;HAX1,upstream_gene_variant,,ENST00000477780,;HAX1,upstream_gene_variant,,ENST00000447768,;HAX1,upstream_gene_variant,,ENST00000492550,;HAX1,upstream_gene_variant,,ENST00000459914,;	uc001fep.3	c.3200C>T	3242/3864	1	1			c.3200C>T						1	SNP	c.(3199-3201)TCC>TTC	9	9			ovary(1)|central_nervous_system(1)	2	Broad	ubiquitin associated protein 2-like isoform a			154242707		0.562	ENSG00000143569	16587	g.chr1:154242707C>T	binding of sperm to zona pellucida		protein binding							-7.874404	KEEP	7	7	-1	94	123	7	7	-1	26.31507	94	123	0.071823	1	0	0	0	0	1	0	0	0	--	--		0	T			UBAP2L_uc010pel.1_Intron|UBAP2L_uc001feq.2_Intron|UBAP2L_uc001fer.2_Missense_Mutation_p.S280F|HAX1_uc001fet.2_5'Flank|HAX1_uc001fes.2_5'Flank|HAX1_uc010peo.1_5'Flank|HAX1_uc009wou.2_5'Flank|HAX1_uc009wov.2_5'Flank	268	GBM-76-4928-TP	p.S1067F	C	CAGACCAGCTCCATCCCGCAG	NM_014847	NP_055662	154242707	Q14157	UBP2L_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.185)		27	3367	+	T	T	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		Missense_Mutation	1067						
UBASH3A	53347	broad.mit.edu	GRCh37	21	43867265	43867265	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319294.6:c.1947C>T	p.Asn649=	p.N649=	ENST00000319294	NM_018961.3	649	aaC/aaT	0		T:0	1	T:0		T	N	uc002zbe.2	protein_coding	YES	CCDS13687.1			1947/1986									ovary(3)	3	c.(1945-1947)AAC>AAT			hmmpanther:PTHR16469,hmmpanther:PTHR16469:SF7,Gene3D:3.40.50.1240	ubiquitin associated and SH3 domain containing,		T:0		ENSP00000317327	T:0	15/15	4.94E-05					4.50E-05		0.000182	rs529202353,COSM3405430	15/15	.		ENST00000319294	Transcript		T:0.0002		cytosol|nucleus		ENSG00000160185	g.chr21:43867265C>T	12462			LOW								--	--	1																																		UBASH3A_uc002zbf.2_Silent_p.N611N|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_3'UTR	0,1	1			p.N649N	NM_018961	NP_061834	T:0.001		0,1	UBS3A_HUMAN	UBASH3A	HGNC	P57075	UBS3A_HUMAN					15	1983	+			UPI0000137941	649			Phosphatase-like.		SNV	UBASH3A,synonymous_variant,p.=,ENST00000319294,NM_018961.3;UBASH3A,synonymous_variant,p.=,ENST00000291535,NM_001001895.2;UBASH3A,3_prime_UTR_variant,,ENST00000398367,NM_001243467.1;UBASH3A,non_coding_transcript_exon_variant,,ENST00000473381,;	uc002zbe.2	c.1947C>T	1978/2504	1	1			c.1947C>T						21	SNP	c.(1945-1947)AAC>AAT	4	4			ovary(3)	3	Broad	ubiquitin associated and SH3 domain containing,			43867265		0.527	ENSG00000160185	16588	g.chr21:43867265C>T		cytosol|nucleus								-50.53047	KEEP	4	2	-1	109	145	4	2	-1	7.665828	109	145	0.02193	1	0	0	0	0	0	0	1	0	--	--		0	T			UBASH3A_uc002zbf.2_Silent_p.N611N|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_3'UTR	65	GBM-06-0743-TP	p.N649N	C	ACGGGGCGAACGCAGCATTTA	NM_018961	NP_061834	43867265	P57075	UBS3A_HUMAN	0			15	1983	+	T	T			Silent	649			Phosphatase-like.			
UBASH3B	84959	broad.mit.edu	GRCh37	11	122653798	122653798	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0173-01	TCGA-06-0173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000284273.5:c.639G>A	p.Val213=	p.V213=	ENST00000284273	NM_032873.4	213	gtG/gtA	0			1			A	V	uc001pyi.3	protein_coding	YES	CCDS31694.1			639/1950									central_nervous_system(1)	1	c.(637-639)GTG>GTA			Gene3D:3.90.1140.10,hmmpanther:PTHR16469,hmmpanther:PTHR16469:SF24	ubiquitin associated and SH3 domain containing,				ENSP00000284273		14-May									COSM2150426	14-May	.		ENST00000284273	Transcript				cytoplasm|nucleus	protein tyrosine phosphatase activity	ENSG00000154127	g.chr11:122653798G>A	29884			LOW								--	--	1																																			1	1			p.V213V	NM_032873	NP_116262			1	UBS3B_HUMAN	UBASH3B	HGNC	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)			5	999	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	UPI0000047471	213					SNV	UBASH3B,synonymous_variant,p.=,ENST00000284273,NM_032873.4;UBASH3B,downstream_gene_variant,,ENST00000526386,;UBASH3B,non_coding_transcript_exon_variant,,ENST00000526493,;UBASH3B,non_coding_transcript_exon_variant,,ENST00000530917,;UBASH3B,non_coding_transcript_exon_variant,,ENST00000529998,;UBASH3B,downstream_gene_variant,,ENST00000533451,;	uc001pyi.3	c.639G>A	1014/6912	2	2			c.639G>A						11	SNP	c.(637-639)GTG>GTA	41	41			central_nervous_system(1)	1	Broad	ubiquitin associated and SH3 domain containing,			122653798		0.473	ENSG00000154127	16589	g.chr11:122653798G>A		cytoplasm|nucleus	protein tyrosine phosphatase activity							436.451341	KEEP	86	82	-1	122	112	86	82	-1	438.255575	122	112	0.423729	1	0	0	0	0	0	0	1	0	--	--		0	A				36	GBM-06-0173-TP	p.V213V	G	AGCTACATGTGACCCTGGCTT	NM_032873	NP_116262	122653798	Q8TF42	UBS3B_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	5	999	+	A	A		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	Silent	213						
UBB	0	broad.mit.edu	GRCh37	17	16285788	16285788	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-3649-01	TCGA-12-3649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302182.3:c.567C>T	p.Pro189=	p.P189=	ENST00000302182	NM_001281720.1	189	ccC/ccT	0			1			T	P	uc002gpx.2	protein_coding	YES	CCDS11177.1			567/690									skin(3)	3	c.(565-567)CCC>CCT			Gene3D:3.10.20.90,Pfam_domain:PF00240,PROSITE_patterns:PS00299,PROSITE_profiles:PS50053,hmmpanther:PTHR10666,SMART_domains:SM00213,Superfamily_domains:SSF54236	ubiquitin B precursor				ENSP00000304697		2-Feb	4.12E-05	9.68E-05				3.00E-05		6.06E-05	rs759167895,COSM417179	2-Feb	.		ENST00000302182	Transcript			activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	ENSG00000170315	g.chr17:16285788C>T	12463			LOW								--	--	1																																		UBB_uc010vwe.1_Silent_p.P113P	0,1	1			p.P189P	NM_018955	NP_061828			0,1	UBB_HUMAN	UBB	HGNC	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	Q5U5U6_HUMAN,M0R1V7_HUMAN,J3QSA3_HUMAN,J3QS39_HUMAN,J3QKN0_HUMAN,F5H747_HUMAN,F5H6Q2_HUMAN,F5H388_HUMAN,F5H2Z3_HUMAN,F5H265_HUMAN,F5GZ39_HUMAN,F5GYU3_HUMAN,B4DV12_HUMAN,A8CGI2_HUMAN		2	705	+			UPI0000002146	189			Ubiquitin-like 3.		SNV	UBB,synonymous_variant,p.=,ENST00000302182,NM_001281720.1,NM_018955.3;UBB,synonymous_variant,p.=,ENST00000395837,NM_001281720.1,NM_001281718.1;UBB,synonymous_variant,p.=,ENST00000395839,NM_001281720.1,NM_001281719.1;UBB,synonymous_variant,p.=,ENST00000577640,;UBB,synonymous_variant,p.=,ENST00000535788,;UBB,downstream_gene_variant,,ENST00000578706,;UBB,downstream_gene_variant,,ENST00000577958,;RP11-138I1.4,non_coding_transcript_exon_variant,,ENST00000583934,;UBB,non_coding_transcript_exon_variant,,ENST00000578649,;	uc002gpx.2	c.567C>T	959/1225	1	1			c.567C>T						17	SNP	c.(565-567)CCC>CCT	12	12			skin(3)	3	Broad	ubiquitin B precursor			16285788		0.552	ENSG00000170315	16590	g.chr17:16285788C>T	activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	Melanoma(163;1126 3406 34901)			Melanoma(163;1126 3406 34901)			-12.117302	KEEP	3	0	-1	44	56	3	0	-1	6.945973	44	56	0.036585	1	0	0	0	0	0	0	1	0	--	--		0	T			UBB_uc010vwe.1_Silent_p.P113P	125	GBM-12-3649-TP	p.P189P	C	AAGGCATCCCCCCCGACCAGC	NM_018955	NP_061828	16285788	P0CG47	UBB_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	705	+	T	T			Silent	189			Ubiquitin-like 3.			
UBBP4	23666		GRCh37	17	21731144	21731144	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000578713.1:c.446T>G	p.Leu149Arg	p.L149R	ENST00000578713		149	cTg/cGg	0																																																																																																																																																																																																																																												
UBD	10537		GRCh37	6	29523710	29523710	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000377050.4:c.445G>A	p.Gly149Ser	p.G149S	ENST00000377050	NM_006398.3	149	Ggc/Agc	0																																																																																																																																																																																																																																												
UBE2M	0	broad.mit.edu	GRCh37	19	59067682	59067682	+	splice_donor_variant	Splice_Site	SNP	C	C	T			TCGA-28-5204-01	TCGA-28-5204-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000253023.3:c.411+1G>A		p.X137_splice	ENST00000253023	NM_003969.3			0			1			T		uc002qtl.3	protein_coding	YES	CCDS12987.1			411/552									ovary(1)|pancreas(1)	2	c.e5+1				ubiquitin-conjugating enzyme E2M				ENSP00000253023											COSM3404733		.		ENST00000253023	Transcript			protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity	ENSG00000130725	g.chr19:59067682C>T	12491			HIGH	5-May							--	--	1																																		CHMP2A_uc002qti.2_5'Flank|CHMP2A_uc002qtj.2_5'Flank|CHMP2A_uc002qtk.2_5'Flank|LOC100131691_uc002qtm.2_5'Flank	1	1			p.L137_splice	NM_003969	NP_003960			1	UBC12_HUMAN	UBE2M	HGNC	P61081	UBC12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	M0QX69_HUMAN		5	1006	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	UPI0000020ECC						SNV	UBE2M,splice_donor_variant,,ENST00000253023,NM_003969.3;UBE2M,splice_donor_variant,,ENST00000595957,;UBE2M,missense_variant,p.Val79Met,ENST00000596985,;CHMP2A,upstream_gene_variant,,ENST00000600118,;CHMP2A,upstream_gene_variant,,ENST00000312547,NM_014453.2;CHMP2A,upstream_gene_variant,,ENST00000601220,NM_198426.1;CHMP2A,upstream_gene_variant,,ENST00000600006,;CHMP2A,upstream_gene_variant,,ENST00000596708,;CHMP2A,upstream_gene_variant,,ENST00000597848,;AC016629.8,upstream_gene_variant,,ENST00000600534,;AC016629.8,upstream_gene_variant,,ENST00000593642,;AC016629.8,upstream_gene_variant,,ENST00000600726,;CHMP2A,upstream_gene_variant,,ENST00000597209,;CHMP2A,upstream_gene_variant,,ENST00000600804,;UBE2M,downstream_gene_variant,,ENST00000599829,;UBE2M,downstream_gene_variant,,ENST00000593801,;	uc002qtl.3	c.411_splice	-/1508	5	2			c.411_splice						19	SNP	c.e5+1	30	30			ovary(1)|pancreas(1)	2	Broad	ubiquitin-conjugating enzyme E2M			59067682		0.552	ENSG00000130725	16614	g.chr19:59067682C>T	protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity							222.847365	KEEP	34	60	-1	56	80	34	60	-1	224.082797	56	80	0.414508	1	0	0	0	0	0	0	0	1	--	--		0	T			CHMP2A_uc002qti.2_5'Flank|CHMP2A_uc002qtj.2_5'Flank|CHMP2A_uc002qtk.2_5'Flank|LOC100131691_uc002qtm.2_5'Flank	215	GBM-28-5204-TP	p.L137_splice	C	TTCCTACTCACCAAGAAGAGA	NM_003969	NP_003960	59067682	P61081	UBC12_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	5	1006	-	T	T		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	Splice_Site							
UBE2NL	389898	broad.mit.edu	GRCh37	X	142967366	142967366	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01	TCGA-06-0649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370494.1:c.164G>A	p.Arg55His	p.R55H	ENST00000370494	NM_001012989.1	55	cGt/cAt	0			1			A	R/H	uc004fca.2	protein_coding	YES	CCDS35420.1			164/462										0	c.(163-165)CGT>CAT			PROSITE_profiles:PS50127,hmmpanther:PTHR24067,hmmpanther:PTHR24067:SF79,Pfam_domain:PF00179,Gene3D:3.10.110.10,SMART_domains:SM00212,Superfamily_domains:SSF54495	ubiquitin-conjugating enzyme E2N-like				ENSP00000359525		1-Jan	2.47E-05					4.17E-05			rs781838711,COSM267711	1-Jan	.		ENST00000370494	Transcript					acid-amino acid ligase activity	ENSG00000102069	g.chrX:142967366G>A	31710			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=UE2NL_HUMAN&rb=7&re=145&var=R55H	getma.org/pdb.php?prot=UE2NL_HUMAN&from=7&to=145&var=R55H	getma.org/?cm=var&var=hg19,X,142967366,G,A&fts=all	R55H	--	--	1																																			0,1	1		benign(0.027)	p.R55H	NM_001012989	NP_001013007		deleterious(0)	0,1	UE2NL_HUMAN	UBE2NL	HGNC	Q5JXB2	UE2NL_HUMAN					1	194	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI0000070C39	55					SNV	UBE2NL,missense_variant,p.Arg55His,ENST00000370494,NM_001012989.1;	uc004fca.2	c.164G>A	194/1183	1	1			c.164G>A						23	SNP	c.(163-165)CGT>CAT	61	61				0	Broad	ubiquitin-conjugating enzyme E2N-like			142967366		0.418	ENSG00000102069	16616	g.chrX:142967366G>A			acid-amino acid ligase activity							138.533335	KEEP	36	43	-1	125	87	36	43	-1	150.18731	125	87	0.276265	1	0	0	0	0	1	0	0	0	--	--		0	A				62	GBM-06-0649-TP	p.R55H	G	ACTTTTAAACGTGAACTATTA	NM_001012989	NP_001013007	142967366	Q5JXB2	UE2NL_HUMAN	0			1	194	+	A	A	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	55						
UBE2NL	389898	broad.mit.edu	GRCh37	X	142967428	142967428	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0649-01	TCGA-06-0649-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370494.1:c.226A>G	p.Ile76Val	p.I76V	ENST00000370494	NM_001012989.1	76	Att/Gtt	0			1			G	I/V	uc004fca.2	protein_coding	YES	CCDS35420.1			226/462										0	c.(226-228)ATT>GTT			PROSITE_profiles:PS50127,hmmpanther:PTHR24067,hmmpanther:PTHR24067:SF79,Pfam_domain:PF00179,Gene3D:3.10.110.10,SMART_domains:SM00212,Superfamily_domains:SSF54495	ubiquitin-conjugating enzyme E2N-like				ENSP00000359525		1-Jan									COSM2151468	1-Jan	.		ENST00000370494	Transcript					acid-amino acid ligase activity	ENSG00000102069	g.chrX:142967428A>G	31710			MODERATE		2.225	medium	getma.org/?cm=msa&ty=f&p=UE2NL_HUMAN&rb=7&re=145&var=I76V	getma.org/pdb.php?prot=UE2NL_HUMAN&from=7&to=145&var=I76V	getma.org/?cm=var&var=hg19,X,142967428,A,G&fts=all	I76V	--	--	1																																			1	1		benign(0.12)	p.I76V	NM_001012989	NP_001013007		tolerated(0.12)	1	UE2NL_HUMAN	UBE2NL	HGNC	Q5JXB2	UE2NL_HUMAN					1	256	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI0000070C39	76					SNV	UBE2NL,missense_variant,p.Ile76Val,ENST00000370494,NM_001012989.1;	uc004fca.2	c.226A>G	256/1183	4	4			c.226A>G						23	SNP	c.(226-228)ATT>GTT	18	18				0	Broad	ubiquitin-conjugating enzyme E2N-like			142967428		0.408	ENSG00000102069	16616	g.chrX:142967428A>G			acid-amino acid ligase activity							183.431439	KEEP	34	32	-1	80	69	34	32	-1	190.776142	80	69	0.29902	1	0	0	0	0	1	0	0	0	--	--		0	G				62	GBM-06-0649-TP	p.I76V	A	CATGACCAAAATTTATCATCC	NM_001012989	NP_001013007	142967428	Q5JXB2	UE2NL_HUMAN	0			1	256	+	G	G	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	76						
UBE2NL	0	broad.mit.edu	GRCh37	X	142967486	142967487	+	missense_variant	Missense_Mutation	DNP	AG	AG	TA			TCGA-14-0871-01	TCGA-14-0871-01	AG	AG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370494.1:c.284_285delAGinsTA	p.Lys95Ile	p.K95I	ENST00000370494	NM_001012989.1	95	aAG/aTA	0			1			TA	K/I	uc004fca.2	protein_coding	YES	CCDS35420.1			284-285/462										0	c.(283-285)AAG>ATA			PROSITE_profiles:PS50127,hmmpanther:PTHR24067,hmmpanther:PTHR24067:SF79,Pfam_domain:PF00179,Gene3D:3.10.110.10,SMART_domains:SM00212,Superfamily_domains:SSF54495	ubiquitin-conjugating enzyme E2N-like				ENSP00000359525		1-Jan										1-Jan	.		ENST00000370494	Transcript					acid-amino acid ligase activity	ENSG00000102069	g.chrX:142967486_142967487AG>TA	31710			MODERATE								--	--	1																																				1		possibly_damaging(0.847)	p.K95I	NM_001012989	NP_001013007		deleterious(0)		UE2NL_HUMAN	UBE2NL	HGNC	Q5JXB2	UE2NL_HUMAN					1	314_315	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI0000070C39	95					substitution	UBE2NL,missense_variant,p.Lys95Ile,ENST00000370494,NM_001012989.1;	uc004fca.2	c.284_285AG>TA	314-315/1183	1	1			c.284_285AG>TA						23	DNP	c.(283-285)AAG>ATA	14	14				0	Broad	ubiquitin-conjugating enzyme E2N-like			142967487		0.421	ENSG00000102069	16616	g.chrX:142967486_142967487AG>TA			acid-amino acid ligase activity							479.860742	KEEP	0	0	-1	0	0	0	0	-1	496.742973	0	0	0.95302	1	0	0	0	0	1	0	0	0	--	--		0	TA				141	GBM-14-0871-TP	p.K95I	AG	TTGAAAGATAAGTGGTCCCCAG	NM_001012989	NP_001013007	142967486	Q5JXB2	UE2NL_HUMAN	0			1	314_315	+	TA	TA	Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	95						
UBE2NL	0	broad.mit.edu	GRCh37	X	142967295	142967295	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5947-01	TCGA-19-5947-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370494.1:c.93C>T	p.Asn31=	p.N31=	ENST00000370494	NM_001012989.1	31	aaC/aaT	0			1			T	N	uc004fca.2	protein_coding	YES	CCDS35420.1			93/462										0	c.(91-93)AAC>AAT			PROSITE_profiles:PS50127,hmmpanther:PTHR24067,hmmpanther:PTHR24067:SF79,Pfam_domain:PF00179,Gene3D:3.10.110.10,SMART_domains:SM00212,Superfamily_domains:SSF54495	ubiquitin-conjugating enzyme E2N-like				ENSP00000359525		1-Jan	1.65E-05					2.09E-05			rs782717601,COSM2156517	1-Jan	.		ENST00000370494	Transcript					acid-amino acid ligase activity	ENSG00000102069	g.chrX:142967295C>T	31710			LOW								--	--	1																																			0,1	1			p.N31N	NM_001012989	NP_001013007			0,1	UE2NL_HUMAN	UBE2NL	HGNC	Q5JXB2	UE2NL_HUMAN					1	123	+	Acute lymphoblastic leukemia(192;6.56e-05)		UPI0000070C39	31					SNV	UBE2NL,synonymous_variant,p.=,ENST00000370494,NM_001012989.1;	uc004fca.2	c.93C>T	123/1183	1	1			c.93C>T						23	SNP	c.(91-93)AAC>AAT	14	14				0	Broad	ubiquitin-conjugating enzyme E2N-like			142967295		0.493	ENSG00000102069	16616	g.chrX:142967295C>T			acid-amino acid ligase activity							164.283122	KEEP	21	44	-1	48	57	21	44	-1	166.161938	48	57	0.381579	1	0	0	0	0	0	0	1	0	--	--		0	T				169	GBM-19-5947-TP	p.N31N	C	ATGAAAGCAACGCCCGTTATT	NM_001012989	NP_001013007	142967295	Q5JXB2	UE2NL_HUMAN	0			1	123	+	T	T	Acute lymphoblastic leukemia(192;6.56e-05)		Silent	31						
UBE2O	63893	broad.mit.edu	GRCh37	17	74395033	74395033	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319380.7:c.1668C>T	p.Asp556=	p.D556=	ENST00000319380	NM_022066.3	556	gaC/gaT	0		A:0.0015	1	A:0		A	D	uc002jrm.3	protein_coding	YES	CCDS32742.1			1668/3879									breast(2)|skin(2)|lung(1)	5	c.(1666-1668)GAC>GAT				ubiquitin-conjugating enzyme E2O		A:0		ENSP00000323687	A:0	18-Oct	8.24E-06	9.62E-05							rs184947149,COSM3403235,COSM3403236	18-Oct	.		ENST00000319380	Transcript		A:0.0004			ATP binding|ubiquitin-protein ligase activity	ENSG00000175931	g.chr17:74395033G>A	29554			LOW								--	--	1																																		UBE2O_uc002jrn.3_Silent_p.D556D|UBE2O_uc002jrl.3_Silent_p.D159D	0,1,1	1			p.D556D	NM_022066	NP_071349	A:0		0,1,1	UBE2O_HUMAN	UBE2O	HGNC	Q9C0C9	UBE2O_HUMAN					10	1733	-			UPI000020032F	556					SNV	UBE2O,synonymous_variant,p.=,ENST00000319380,NM_022066.3;UBE2O,synonymous_variant,p.=,ENST00000587127,;UBE2O,downstream_gene_variant,,ENST00000590658,;UBE2O,non_coding_transcript_exon_variant,,ENST00000587581,;UBE2O,non_coding_transcript_exon_variant,,ENST00000586409,;UBE2O,downstream_gene_variant,,ENST00000586505,;	uc002jrm.3	c.1668C>T	1733/5436	2	2			c.1668C>T						17	SNP	c.(1666-1668)GAC>GAT	20	20			breast(2)|skin(2)|lung(1)	5	Broad	ubiquitin-conjugating enzyme E2O			74395033		0.627	ENSG00000175931	16617	g.chr17:74395033G>A			ATP binding|ubiquitin-protein ligase activity			583			583	406.201861	KEEP	59	76	-1	18	17	59	76	-1	419.371339	18	17	0.803922	1	0	0	0	0	0	0	1	0	--	--		0	A			UBE2O_uc002jrn.3_Silent_p.D556D|UBE2O_uc002jrl.3_Silent_p.D159D	102	GBM-06-5858-TP	p.D556D	G	GCCACATCACGTCGGCTGAGG	NM_022066	NP_071349	74395033	Q9C0C9	UBE2O_HUMAN	0			10	1733	-	A	A			Silent	556						
UBE2U	0	broad.mit.edu	GRCh37	1	64707415	64707418	+	splice_donor_variant,coding_sequence_variant	Splice_Site	DEL	AAGT	AAGT	-			TCGA-32-2638-01	TCGA-32-2638-01	AAGT	AAGT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371076.3:c.677+2_677+5delTAAG		p.X226_splice	ENST00000371076	NM_152489.1	226		0			1			-		uc001dbn.1	protein_coding	YES	CCDS627.1			676-?/681										0	c.e8+1				ubiquitin-conjugating enzyme E2U (putative)				ENSP00000360116		9-Aug										9-Aug	.		ENST00000371076	Transcript					ATP binding|protein binding|ubiquitin-protein ligase activity	ENSG00000177414	g.chr1:64707415_64707418delAAGT	28559	3		HIGH	8-Aug							--	--	1																																				1			p.K226_splice	NM_152489	NP_689702				UBE2U_HUMAN	UBE2U	HGNC	Q5VVX9	UBE2U_HUMAN					8	921	+			UPI000006E065						deletion	UBE2U,splice_donor_variant,,ENST00000371077,;UBE2U,splice_donor_variant,,ENST00000371076,NM_152489.1;UBE2U,splice_donor_variant,,ENST00000608020,;UBE2U,splice_donor_variant,,ENST00000608956,;UBE2U,splice_donor_variant,,ENST00000464349,;	uc001dbn.1	c.677_splice	920-?/1136	5	5			c.677_splice						1	DEL	c.e8+1	55	55				0	Broad	ubiquitin-conjugating enzyme E2U (putative)			64707418		0.304	ENSG00000177414	16623	g.chr1:64707415_64707418delAAGT			ATP binding|protein binding|ubiquitin-protein ligase activity																				0.23	1	1	0	1	0	0	0	0	1	--	--		0	-				242	GBM-32-2638-TP	p.K226_splice	AAGT	ATGGAATTTAAAGTAAGAAATATG	NM_152489	NP_689702	64707415	Q5VVX9	UBE2U_HUMAN	0			8	921	+	-	-			Splice_Site							
UBE2W	0	broad.mit.edu	GRCh37	8	74722708	74722709	+	splice_donor_variant,coding_sequence_variant,NMD_transcript_variant	Splice_Site	DNP	CC	CC	AA			TCGA-14-1034-01	TCGA-14-1034-01	CC	CC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358757.5:c.366_366+1delGGinsTT		p.X122_splice	ENST00000358757		122		0			1			AA		uc003xzv.2	protein_coding					366-?/456										0	c.e4+1				ubiquitin-conjugating enzyme E2W (putative)				ENSP00000473561		6-Apr										6-Apr	.		ENST00000602593	Transcript			protein K11-linked ubiquitination|protein monoubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity	ENSG00000104343	g.chr8:74722708_74722709CC>AA	25616			HIGH	5-Apr							--	--	1																																		UBE2W_uc003xzt.2_Splice_Site_p.K122_splice|UBE2W_uc003xzu.2_Splice_Site_p.K133_splice|UBE2W_uc003xzw.2_Splice_Site					p.K122_splice	NM_018299	NP_060769				UBE2W_HUMAN	UBE2W	HGNC	Q96B02	UBE2W_HUMAN	Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)				4	419	-	Breast(64;0.0311)		UPI0000037726						substitution	UBE2W,splice_donor_variant,,ENST00000517608,NM_018299.4;UBE2W,splice_donor_variant,,ENST00000602969,;UBE2W,splice_donor_variant,,ENST00000602593,;UBE2W,splice_donor_variant,,ENST00000419880,NM_001001481.2;UBE2W,splice_donor_variant,,ENST00000453587,NM_001271015.1;UBE2W,splice_donor_variant,,ENST00000523278,;UBE2W,splice_donor_variant,,ENST00000422906,;RP11-463D19.2,splice_donor_variant,,ENST00000358757,;UBE2W,splice_donor_variant,,ENST00000519277,;UBE2W,splice_donor_variant,,ENST00000519255,;	uc003xzv.2	c.366_splice	419-?/4004	5	1			c.366_splice						8	DNP	c.e4+1	50	50				0	Broad	ubiquitin-conjugating enzyme E2W (putative)			74722709		0.327	ENSG00000104343	16626	g.chr8:74722708_74722709CC>AA	protein K11-linked ubiquitination|protein monoubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity	Pancreas(14;490 592 20090 21022 23311)			Pancreas(14;490 592 20090 21022 23311)			29.021529	KEEP	0	0	-1	0	0	0	0	-1	42.789938	0	0	0.142857	1	0	0	0	0	0	0	0	1	--	--		0	AA			UBE2W_uc003xzt.2_Splice_Site_p.K122_splice|UBE2W_uc003xzu.2_Splice_Site_p.K133_splice|UBE2W_uc003xzw.2_Splice_Site	142	GBM-14-1034-TP	p.K122_splice	CC	AAAAGTCTTACCTTTTCCTTGC	NM_018299	NP_060769	74722708	Q96B02	UBE2W_HUMAN	0	Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)		4	419	-	AA	AA	Breast(64;0.0311)		Splice_Site							
UBE3B	0	broad.mit.edu	GRCh37	12	109921388	109921388	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342494.3:c.32G>A	p.Trp11Ter	p.W11*	ENST00000342494	NM_130466.3	11	tGg/tAg	0			1			A	W/*	uc001top.2	protein_coding	YES	CCDS9129.1			32/3207									ovary(2)|lung(2)	4	c.(31-33)TGG>TAG			hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF303	ubiquitin protein ligase E3B				ENSP00000340596		28-Mar									COSM3398329,COSM3398330,COSM3398331	28-Mar	.		ENST00000342494	Transcript	1		protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	ENSG00000151148	g.chr12:109921388G>A	13478			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,12,109921388,G,A&fts=all	W11*	--	--	1																																		UBE3B_uc001toq.2_Nonsense_Mutation_p.W11*|UBE3B_uc001tol.1_Nonsense_Mutation_p.W11*|UBE3B_uc001tom.2_Nonsense_Mutation_p.W11*|UBE3B_uc001ton.2_Nonsense_Mutation_p.W11*|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Nonsense_Mutation_p.W11*|UBE3B_uc001tor.2_Nonsense_Mutation_p.W11*	1,1,1	1			p.W11*	NM_130466	NP_569733			1,1,1	UBE3B_HUMAN	UBE3B	HGNC	Q7Z3V4	UBE3B_HUMAN			F5H5T5_HUMAN		3	635	+			UPI000013DC3B	11					SNV	UBE3B,stop_gained,p.Trp11Ter,ENST00000342494,NM_130466.3;UBE3B,stop_gained,p.Trp11Ter,ENST00000434735,NM_183415.2;UBE3B,stop_gained,p.Trp11Ter,ENST00000537063,;UBE3B,stop_gained,p.Trp11Ter,ENST00000539599,;UBE3B,stop_gained,p.Trp11Ter,ENST00000280774,;UBE3B,stop_gained,p.Trp11Ter,ENST00000540230,;UBE3B,stop_gained,p.Trp11Ter,ENST00000340074,NM_001270449.1;UBE3B,stop_gained,p.Trp11Ter,ENST00000536398,NM_001270450.1,NM_001270451.1;UBE3B,stop_gained,p.Trp11Ter,ENST00000449510,;UBE3B,non_coding_transcript_exon_variant,,ENST00000539843,;	uc001top.2	c.32G>A	627/5722	5	1			c.32G>A						12	SNP	c.(31-33)TGG>TAG	55	55			ovary(2)|lung(2)	4	Broad	ubiquitin protein ligase E3B			109921388		0.512	ENSG00000151148	16629	g.chr12:109921388G>A	protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			668			668	140.318122	KEEP	37	27	-1	108	115	37	27	-1	158.392793	108	115	0.228464	1	0	0	0	0	0	1	0	0	--	--		0	A			UBE3B_uc001toq.2_Nonsense_Mutation_p.W11*|UBE3B_uc001tol.1_Nonsense_Mutation_p.W11*|UBE3B_uc001tom.2_Nonsense_Mutation_p.W11*|UBE3B_uc001ton.2_Nonsense_Mutation_p.W11*|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Nonsense_Mutation_p.W11*|UBE3B_uc001tor.2_Nonsense_Mutation_p.W11*	220	GBM-28-5213-TP	p.W11*	G	TCGAGAGCATGGTTCATCGAT	NM_130466	NP_569733	109921388	Q7Z3V4	UBE3B_HUMAN	0			3	635	+	A	A			Nonsense_Mutation	11						
UBE3C	9690	broad.mit.edu	GRCh37	7	157046771	157046771	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs142140245		TCGA-06-1804-01	TCGA-06-1804-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000348165.5:c.2818C>T	p.Arg940Cys	p.R940C	ENST00000348165	NM_014671.2	940	Cgc/Tgc	0	T:0		1			T	R/C	uc010lqs.2	protein_coding	YES	CCDS34789.1			2818/3252									ovary(2)|lung(2)|large_intestine(1)	5	c.(2818-2820)CGC>TGC			Pfam_domain:PF00632,PROSITE_profiles:PS50237,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF85,SMART_domains:SM00119,Superfamily_domains:SSF56204	ubiquitin protein ligase E3C			T:0.0001	ENSP00000309198		20/23	8.24E-06					1.50E-05			rs142140245,COSM2152499	20/23	.		ENST00000348165	Transcript			protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	ENSG00000009335	g.chr7:157046771C>T	16803			MODERATE		2.805	medium	getma.org/?cm=msa&ty=f&p=UBE3C_HUMAN&rb=778&re=1083&var=R940C	getma.org/pdb.php?prot=UBE3C_HUMAN&from=778&to=1083&var=R940C	getma.org/?cm=var&var=hg19,7,157046771,C,T&fts=all	R940C	--	--	1																																		UBE3C_uc003wni.3_Missense_Mutation_p.R303C	0,1	1		probably_damaging(0.946)	p.R940C	NM_014671	NP_055486		deleterious(0)	0,1	UBE3C_HUMAN	UBE3C	HGNC	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)			20	3130	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	UPI000020E72A	940			HECT.		SNV	UBE3C,missense_variant,p.Arg940Cys,ENST00000348165,NM_014671.2;UBE3C,non_coding_transcript_exon_variant,,ENST00000470408,;UBE3C,upstream_gene_variant,,ENST00000474153,;	uc010lqs.2	c.2818C>T	3178/5229	2	2			c.2818C>T						7	SNP	c.(2818-2820)CGC>TGC	33	33			ovary(2)|lung(2)|large_intestine(1)	5	Broad	ubiquitin protein ligase E3C			157046771		0.562	ENSG00000009335	16630	g.chr7:157046771C>T	protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity							102.929153	KEEP	16	19	-1	14	15	16	19	-1	102.943779	14	15	0.516667	1	0	0	0	0	1	0	0	0	--	--		0	T			UBE3C_uc003wni.3_Missense_Mutation_p.R303C	79	GBM-06-1804-TP	p.R940C	C	CCTGGCTTTCCGCCAGGGCCT	NM_014671	NP_055486	157046771	Q15386	UBE3C_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	20	3130	+	T	T		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	Missense_Mutation	940			HECT.			
UBE3C	9690	broad.mit.edu	GRCh37	7	157046788	157046788	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-5413-01	TCGA-06-5413-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000348165.5:c.2835T>C	p.Asn945=	p.N945=	ENST00000348165	NM_014671.2	945	aaT/aaC	0			1			C	N	uc010lqs.2	protein_coding	YES	CCDS34789.1			2835/3252									ovary(2)|lung(2)|large_intestine(1)	5	c.(2833-2835)AAT>AAC			Pfam_domain:PF00632,PROSITE_profiles:PS50237,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF85,SMART_domains:SM00119,Superfamily_domains:SSF56204	ubiquitin protein ligase E3C				ENSP00000309198		20/23									COSM2153191	20/23	.		ENST00000348165	Transcript			protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	ENSG00000009335	g.chr7:157046788T>C	16803			LOW								--	--	1																																		UBE3C_uc003wni.3_Silent_p.N308N	1	1			p.N945N	NM_014671	NP_055486			1	UBE3C_HUMAN	UBE3C	HGNC	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)			20	3147	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	UPI000020E72A	945			HECT.		SNV	UBE3C,synonymous_variant,p.=,ENST00000348165,NM_014671.2;UBE3C,non_coding_transcript_exon_variant,,ENST00000470408,;UBE3C,upstream_gene_variant,,ENST00000474153,;	uc010lqs.2	c.2835T>C	3195/5229	3	3			c.2835T>C						7	SNP	c.(2833-2835)AAT>AAC	7	7			ovary(2)|lung(2)|large_intestine(1)	5	Broad	ubiquitin protein ligase E3C			157046788		0.562	ENSG00000009335	16630	g.chr7:157046788T>C	protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity							40.951878	KEEP	8	12	-1	27	38	8	12	-1	45.483484	27	38	0.246753	1	0	0	0	0	0	0	1	0	--	--		0	C			UBE3C_uc003wni.3_Silent_p.N308N	96	GBM-06-5413-TP	p.N945N	T	GCCTTGCCAATGTCGTCAGCC	NM_014671	NP_055486	157046788	Q15386	UBE3C_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	20	3147	+	C	C		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	Silent	945			HECT.			
UBE3C	0	broad.mit.edu	GRCh37	7	157041143	157041143	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000348165.5:c.2563G>A	p.Asp855Asn	p.D855N	ENST00000348165	NM_014671.2	855	Gac/Aac	0			1			A	D/N	uc010lqs.2	protein_coding	YES	CCDS34789.1			2563/3252									ovary(2)|lung(2)|large_intestine(1)	5	c.(2563-2565)GAC>AAC			Gene3D:1c4zA02,Pfam_domain:PF00632,PROSITE_profiles:PS50237,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF85,SMART_domains:SM00119,Superfamily_domains:SSF56204	ubiquitin protein ligase E3C				ENSP00000309198		19/23									COSM3411867	19/23	.		ENST00000348165	Transcript			protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	ENSG00000009335	g.chr7:157041143G>A	16803			MODERATE		0.6	neutral	getma.org/?cm=msa&ty=f&p=UBE3C_HUMAN&rb=778&re=1083&var=D855N	getma.org/pdb.php?prot=UBE3C_HUMAN&from=778&to=1083&var=D855N	getma.org/?cm=var&var=hg19,7,157041143,G,A&fts=all	D855N	--	--	1																																		UBE3C_uc003wni.3_Missense_Mutation_p.D218N	1	1		possibly_damaging(0.451)	p.D855N	NM_014671	NP_055486		deleterious(0)	1	UBE3C_HUMAN	UBE3C	HGNC	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)			19	2875	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	UPI000020E72A	855			HECT.		SNV	UBE3C,missense_variant,p.Asp855Asn,ENST00000348165,NM_014671.2;UBE3C,non_coding_transcript_exon_variant,,ENST00000470408,;UBE3C,non_coding_transcript_exon_variant,,ENST00000494532,;	uc010lqs.2	c.2563G>A	2923/5229	1	1			c.2563G>A						7	SNP	c.(2563-2565)GAC>AAC	52	52			ovary(2)|lung(2)|large_intestine(1)	5	Broad	ubiquitin protein ligase E3C			157041143		0.502	ENSG00000009335	16630	g.chr7:157041143G>A	protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity							238.85568	KEEP	47	59	-1	140	189	47	59	-1	263.47427	140	189	0.242647	1	0	0	0	0	1	0	0	0	--	--		0	A			UBE3C_uc003wni.3_Missense_Mutation_p.D218N	190	GBM-27-1831-TP	p.D855N	G	TGCCGACGTGGACATTCACCA	NM_014671	NP_055486	157041143	Q15386	UBE3C_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	19	2875	+	A	A		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	Missense_Mutation	855			HECT.			
UBE3C	0	broad.mit.edu	GRCh37	7	157041080	157041081	+	inframe_insertion	In_Frame_Ins	INS	-	-	TGG			TCGA-27-2526-01	TCGA-27-2526-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000348165.5:c.2504_2506dupTGG	p.Val835dup	p.V835dup	ENST00000348165	NM_014671.2	834	ctg/cTGGtg	0			1			TGG	L/LV	uc010lqs.2	protein_coding	YES	CCDS34789.1			2500-2501/3252									ovary(2)|lung(2)|large_intestine(1)	5	c.(2500-2502)CTG>CTGGTG			Pfam_domain:PF00632,PROSITE_profiles:PS50237,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF85,SMART_domains:SM00119,Superfamily_domains:SSF56204	ubiquitin protein ligase E3C				ENSP00000309198		19/23										19/23	.		ENST00000348165	Transcript			protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	ENSG00000009335	g.chr7:157041080_157041081insTGG	16803	6		MODERATE								--	--	1																																		UBE3C_uc003wni.3_In_Frame_Ins_p.198_199insV		1			p.835_836insV	NM_014671	NP_055486				UBE3C_HUMAN	UBE3C	HGNC	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)			19	2812_2813	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	UPI000020E72A	835_836			HECT.		insertion	UBE3C,inframe_insertion,p.Val835dup,ENST00000348165,NM_014671.2;UBE3C,non_coding_transcript_exon_variant,,ENST00000470408,;UBE3C,non_coding_transcript_exon_variant,,ENST00000494532,;	uc010lqs.2	c.2500_2501insTGG	2860-2861/5229	5	5			c.2500_2501insTGG						7	INS	c.(2500-2502)CTG>CTGGTG	11	11			ovary(2)|lung(2)|large_intestine(1)	5	Broad	ubiquitin protein ligase E3C			157041081		0.47	ENSG00000009335	16630	g.chr7:157041080_157041081insTGG	protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity																				0.14	1	0	0	1	1	0	0	0	0	--	--		0	TGG			UBE3C_uc003wni.3_In_Frame_Ins_p.198_199insV	203	GBM-27-2526-TP	p.835_836insV	-	TGAGAACATGCTGGTGGAGCTG	NM_014671	NP_055486	157041080	Q15386	UBE3C_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	19	2812_2813	+	TGG	TGG		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	In_Frame_Ins	835_836			HECT.			
UBE3C	0	broad.mit.edu	GRCh37	7	157000142	157000142	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-5219-01	TCGA-28-5219-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000348165.5:c.1469T>C	p.Phe490Ser	p.F490S	ENST00000348165	NM_014671.2	490	tTt/tCt	0			1			C	F/S	uc010lqs.2	protein_coding	YES	CCDS34789.1			1469/3252									ovary(2)|lung(2)|large_intestine(1)	5	c.(1468-1470)TTT>TCT			hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF85	ubiquitin protein ligase E3C				ENSP00000309198		23-Dec									COSM3411866	23-Dec	.		ENST00000348165	Transcript			protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	ENSG00000009335	g.chr7:157000142T>C	16803			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=UBE3C_HUMAN&rb=67&re=657&var=F490S	NA	getma.org/?cm=var&var=hg19,7,157000142,T,C&fts=all	F490S	--	--	1																																		UBE3C_uc003wng.2_Missense_Mutation_p.F490S	1	1		benign(0.001)	p.F490S	NM_014671	NP_055486		tolerated(0.84)	1	UBE3C_HUMAN	UBE3C	HGNC	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)			12	1781	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	UPI000020E72A	490					SNV	UBE3C,missense_variant,p.Phe490Ser,ENST00000348165,NM_014671.2;UBE3C,upstream_gene_variant,,ENST00000469336,;	uc010lqs.2	c.1469T>C	1829/5229	3	3			c.1469T>C						7	SNP	c.(1468-1470)TTT>TCT	15	15			ovary(2)|lung(2)|large_intestine(1)	5	Broad	ubiquitin protein ligase E3C			157000142		0.358	ENSG00000009335	16630	g.chr7:157000142T>C	protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity							-98.653019	KEEP	7	5	-1	297	276	7	5	-1	26.677353	297	276	0.024096	1	0	0	0	0	1	0	0	0	--	--		0	C			UBE3C_uc003wng.2_Missense_Mutation_p.F490S	225	GBM-28-5219-TP	p.F490S	T	CCTATGTCTTTTGAAGATTCT	NM_014671	NP_055486	157000142	Q15386	UBE3C_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	12	1781	+	C	C		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	Missense_Mutation	490						
UBE3C	0	broad.mit.edu	GRCh37	7	156963055	156963055	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01	TCGA-41-5651-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000348165.5:c.253G>A	p.Ala85Thr	p.A85T	ENST00000348165	NM_014671.2	85	Gct/Act	0			1			A	A/T	uc010lqs.2	protein_coding	YES	CCDS34789.1			253/3252									ovary(2)|lung(2)|large_intestine(1)	5	c.(253-255)GCT>ACT			hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF85	ubiquitin protein ligase E3C				ENSP00000309198		23-Apr	8.24E-06					1.50E-05			rs771252696,COSM3411864	23-Apr	.		ENST00000348165	Transcript			protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	ENSG00000009335	g.chr7:156963055G>A	16803			MODERATE		-0.49	neutral	getma.org/?cm=msa&ty=f&p=UBE3C_HUMAN&rb=67&re=657&var=A85T	NA	getma.org/?cm=var&var=hg19,7,156963055,G,A&fts=all	A85T	--	--	1																																		UBE3C_uc003wnf.2_Missense_Mutation_p.A42T|UBE3C_uc003wng.2_Missense_Mutation_p.A85T	0,1	1		benign(0)	p.A85T	NM_014671	NP_055486		tolerated(0.7)	0,1	UBE3C_HUMAN	UBE3C	HGNC	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)			4	565	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	UPI000020E72A	85					SNV	UBE3C,missense_variant,p.Ala85Thr,ENST00000348165,NM_014671.2;UBE3C,missense_variant,p.Ala42Thr,ENST00000389103,;UBE3C,3_prime_UTR_variant,,ENST00000430750,;	uc010lqs.2	c.253G>A	613/5229	2	2			c.253G>A						7	SNP	c.(253-255)GCT>ACT	28	28			ovary(2)|lung(2)|large_intestine(1)	5	Broad	ubiquitin protein ligase E3C			156963055		0.398	ENSG00000009335	16630	g.chr7:156963055G>A	protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity							173.349017	KEEP	31	38	-1	64	66	31	38	-1	176.337425	64	66	0.36	1	0	0	0	0	1	0	0	0	--	--		0	A			UBE3C_uc003wnf.2_Missense_Mutation_p.A42T|UBE3C_uc003wng.2_Missense_Mutation_p.A85T	258	GBM-41-5651-TP	p.A85T	G	GTCCGGGGGCGCTTTTCCCAT	NM_014671	NP_055486	156963055	Q15386	UBE3C_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	4	565	+	A	A		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	Missense_Mutation	85						
UBE3D	90025	broad.mit.edu	GRCh37	6	83728822	83728822	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0238-01	TCGA-06-0238-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369747.3:c.880del	p.Glu294AsnfsTer3	p.E294Nfs*3	ENST00000369747	NM_198920.1	294	Gaa/aa	0			1			-	E/X	uc003pjp.2	protein_coding	YES	CCDS34491.1			880/1170									ovary(1)	1	c.(880-882)GAAfs			hmmpanther:PTHR31531,hmmpanther:PTHR31531:SF2,Pfam_domain:PF09814	ubiquitin-conjugating enzyme E2C binding				ENSP00000358762		10-Aug									COSM2151085	10-Aug	.		ENST00000369747	Transcript				cytoplasm	ligase activity	ENSG00000118420	g.chr6:83728822delC	21381			HIGH								--	--	1																																		UBE2CBP_uc011dyx.1_RNA|UBE2CBP_uc003pjq.2_Frame_Shift_Del_p.E84fs	1	1			p.E294fs	NM_198920	NP_944602			1	UBE3D_HUMAN	UBE3D	HGNC	Q7Z6J8	UB2CB_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0944)	D6RHY9_HUMAN		8	988	-		all_cancers(76;0.000374)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0548)	UPI0000160DBE	294					deletion	UBE3D,frameshift_variant,p.Glu294AsnfsTer3,ENST00000369747,NM_198920.1;UBE3D,frameshift_variant,p.=,ENST00000509102,;UBE3D,3_prime_UTR_variant,,ENST00000369746,;UBE3D,3_prime_UTR_variant,,ENST00000237186,;UBE3D,3_prime_UTR_variant,,ENST00000430071,;	uc003pjp.2	c.880delG	1003/1917	5	5			c.880delG						6	DEL	c.(880-882)GAAfs	50	50			ovary(1)	1	Broad	ubiquitin-conjugating enzyme E2C binding			83728822		0.353	ENSG00000118420	16596	g.chr6:83728822delC		cytoplasm	ligase activity																				0.4	1	1	0	1	0	0	0	0	0	--	--		0	-			UBE2CBP_uc011dyx.1_RNA|UBE2CBP_uc003pjq.2_Frame_Shift_Del_p.E84fs	55	GBM-06-0238-TP	p.E294fs	C	CTCAAAGATTCAATCACCAAA	NM_198920	NP_944602	83728822	Q7Z6J8	UB2CB_HUMAN	0		BRCA - Breast invasive adenocarcinoma(397;0.0944)	8	988	-	-	-		all_cancers(76;0.000374)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0548)	Frame_Shift_Del	294						
UBE4A	0	broad.mit.edu	GRCh37	11	118255613	118255613	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-76-6282-01	TCGA-76-6282-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252108.3:c.2365A>T	p.Asn789Tyr	p.N789Y	ENST00000252108	NM_001204077.1	789	Aac/Tac	0			1			T	N/Y	uc001psw.2	protein_coding		CCDS55790.1			2365/3201									ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5	c.(2365-2367)AAC>TAC			Low_complexity_(Seg):seg,hmmpanther:PTHR13931:SF2,hmmpanther:PTHR13931,Pfam_domain:PF10408	ubiquitination factor E4A				ENSP00000252108		15/20									COSM3397444	15/20	.		ENST00000252108	Transcript			ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	ENSG00000110344	g.chr11:118255613A>T	12499			MODERATE		2.47	medium	getma.org/?cm=msa&ty=f&p=UBE4A_HUMAN&rb=330&re=973&var=N789Y	getma.org/pdb.php?prot=UBE4A_HUMAN&from=330&to=973&var=N789Y	getma.org/?cm=var&var=hg19,11,118255613,A,T&fts=all	N789Y	--	--	1																																		UBE4A_uc001psv.2_Missense_Mutation_p.N796Y	1			probably_damaging(1)	p.N789Y	NM_004788	NP_004779		deleterious(0)	1	UBE4A_HUMAN	UBE4A	HGNC	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	B7Z7P0_HUMAN		15	2494	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	UPI00001FA485	789					SNV	UBE4A,missense_variant,p.Asn789Tyr,ENST00000252108,NM_001204077.1,NM_004788.3;UBE4A,missense_variant,p.Asn796Tyr,ENST00000431736,;UBE4A,missense_variant,p.Asn261Tyr,ENST00000545354,;	uc001psw.2	c.2365A>T	2496/6103	1	1			c.2365A>T						11	SNP	c.(2365-2367)AAC>TAC	2	2			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5	Broad	ubiquitination factor E4A			118255613		0.373	ENSG00000110344	16631	g.chr11:118255613A>T	ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding							66.090622	KEEP	12	20	-1	55	64	12	20	-1	75.475773	55	64	0.223881	1	0	0	0	0	1	0	0	0	--	--		0	T			UBE4A_uc001psv.2_Missense_Mutation_p.N796Y	278	GBM-76-6282-TP	p.N789Y	A	CCGCTTTCTTAACCTGCTAAT	NM_004788	NP_004779	118255613	Q14139	UBE4A_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	15	2494	+	T	T	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	Missense_Mutation	789						
UBE4B	10277	broad.mit.edu	GRCh37	1	10192468	10192468	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-06-0644-01	TCGA-06-0644-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343090.6:c.1953C>G	p.Gly651=	p.G651=	ENST00000343090	NM_001105562.2	651	ggC/ggG	0			1			G	G	uc001aqs.3	protein_coding	YES	CCDS41245.1			1953/3909									ovary(2)|skin(2)	4	c.(1951-1953)GGC>GGG			Pfam_domain:PF10408,hmmpanther:PTHR13931,hmmpanther:PTHR13931:SF13	ubiquitination factor E4B isoform 1				ENSP00000343001		15/28									COSM2151204,COSM2151203,COSM3399491	15/28	.		ENST00000343090	Transcript			apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	ENSG00000130939	g.chr1:10192468C>G	12500			LOW								--	--	1																																		UBE4B_uc001aqr.3_Silent_p.G522G|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Silent_p.G106G|UBE4B_uc001aqt.1_5'UTR	1,1,1	1			p.G651G	NM_001105562	NP_001099032			1,1,1	UBE4B_HUMAN	UBE4B	HGNC	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)			15	2666	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	UPI0000137944	651					SNV	UBE4B,synonymous_variant,p.=,ENST00000377157,NM_006048.4;UBE4B,synonymous_variant,p.=,ENST00000343090,NM_001105562.2;UBE4B,synonymous_variant,p.=,ENST00000253251,;UBE4B,synonymous_variant,p.=,ENST00000470736,;UBE4B,non_coding_transcript_exon_variant,,ENST00000475795,;UBE4B,non_coding_transcript_exon_variant,,ENST00000466379,;	uc001aqs.3	c.1953C>G	2028/5267	3	3			c.1953C>G						1	SNP	c.(1951-1953)GGC>GGG	8	8			ovary(2)|skin(2)	4	Broad	ubiquitination factor E4B isoform 1			10192468		0.373	ENSG00000130939	16632	g.chr1:10192468C>G	apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding							40.413085	KEEP	11	8	-1	26	38	11	8	-1	45.468888	26	38	0.212121	1	0	0	0	0	0	0	1	0	--	--		0	G			UBE4B_uc001aqr.3_Silent_p.G522G|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Silent_p.G106G|UBE4B_uc001aqt.1_5'UTR	58	GBM-06-0644-TP	p.G651G	C	TGTTAAATGGCGAAACCCGTG	NM_001105562	NP_001099032	10192468	O95155	UBE4B_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	15	2666	+	G	G		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	Silent	651						
UBE4B	0	broad.mit.edu	GRCh37	1	10221285	10221285	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-41-3392-01	TCGA-41-3392-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000343090.6:c.3139C>T	p.Arg1047Ter	p.R1047*	ENST00000343090	NM_001105562.2	1047	Cga/Tga	0			1			T	R/*	uc001aqs.3	protein_coding	YES	CCDS41245.1			3139/3909									ovary(2)|skin(2)	4	c.(3139-3141)CGA>TGA			Pfam_domain:PF10408,hmmpanther:PTHR13931,hmmpanther:PTHR13931:SF13	ubiquitination factor E4B isoform 1				ENSP00000343001		23/28									COSM220489,COSM3399492,COSM3399493	23/28	.		ENST00000343090	Transcript			apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	ENSG00000130939	g.chr1:10221285C>T	12500			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,10221285,C,T&fts=all	R1047*	--	--	1																																		UBE4B_uc001aqr.3_Nonsense_Mutation_p.R918*|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Nonsense_Mutation_p.R502*	1,1,1	1			p.R1047*	NM_001105562	NP_001099032			1,1,1	UBE4B_HUMAN	UBE4B	HGNC	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)			23	3852	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	UPI0000137944	1047					SNV	UBE4B,stop_gained,p.Arg802Ter,ENST00000377157,NM_006048.4;UBE4B,stop_gained,p.Arg1047Ter,ENST00000343090,NM_001105562.2;UBE4B,stop_gained,p.Arg918Ter,ENST00000253251,;RNU6-828P,upstream_gene_variant,,ENST00000364876,;UBE4B,stop_gained,p.Arg73Ter,ENST00000488228,;	uc001aqs.3	c.3139C>T	3214/5267	5	2			c.3139C>T						1	SNP	c.(3139-3141)CGA>TGA	35	35			ovary(2)|skin(2)	4	Broad	ubiquitination factor E4B isoform 1			10221285		0.493	ENSG00000130939	16632	g.chr1:10221285C>T	apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding							94.481583	KEEP	19	19	-1	50	37	19	19	-1	98.845468	50	37	0.29661	1	0	0	0	0	0	1	0	0	--	--		0	T			UBE4B_uc001aqr.3_Nonsense_Mutation_p.R918*|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Nonsense_Mutation_p.R502*	254	GBM-41-3392-TP	p.R1047*	C	GTCTCTGAAGCGAATCCATGA	NM_001105562	NP_001099032	10221285	O95155	UBE4B_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	23	3852	+	T	T		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	Nonsense_Mutation	1047						
UBFD1	0	broad.mit.edu	GRCh37	16	23570883	23570883	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-2619-01	TCGA-19-2619-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395878.3:c.450C>T	p.Ile150=	p.I150=	ENST00000395878	NM_019116.2	150	atC/atT	0			1			T	I	uc002dlv.2	protein_coding	YES	CCDS10613.2			450/930										0	c.(448-450)ATC>ATT			Gene3D:3.10.20.90,Pfam_domain:PF00240,PROSITE_profiles:PS50053,hmmpanther:PTHR16470,SMART_domains:SM00213,Superfamily_domains:SSF54236	ubiquitin-binding protein homolog				ENSP00000379217		7-Mar									COSM2156142,COSM3402195	7-Mar	.		ENST00000395878	Transcript						ENSG00000103353	g.chr16:23570883C>T	30565			LOW								--	--	1																																		EARS2_uc002dls.3_5'Flank|EARS2_uc002dlt.3_5'Flank|EARS2_uc002dlu.2_5'Flank	1,1	1			p.I150I	NM_019116	NP_061989			1,1	UBFD1_HUMAN	UBFD1	HGNC	O14562	UBFD1_HUMAN		GBM - Glioblastoma multiforme(48;0.0331)	H3BRL3_HUMAN,B3KW52_HUMAN		3	652	+			UPI00001FF0A3	150			Ubiquitin-like.		SNV	UBFD1,synonymous_variant,p.=,ENST00000395878,NM_019116.2;UBFD1,synonymous_variant,p.=,ENST00000567212,;UBFD1,synonymous_variant,p.=,ENST00000219638,;UBFD1,synonymous_variant,p.=,ENST00000567264,;EARS2,upstream_gene_variant,,ENST00000449606,NM_001083614.1;EARS2,upstream_gene_variant,,ENST00000563459,;EARS2,upstream_gene_variant,,ENST00000564501,;EARS2,upstream_gene_variant,,ENST00000563232,;UBFD1,non_coding_transcript_exon_variant,,ENST00000571064,;UBFD1,upstream_gene_variant,,ENST00000563366,;EARS2,upstream_gene_variant,,ENST00000564461,;UBFD1,upstream_gene_variant,,ENST00000564106,;EARS2,upstream_gene_variant,,ENST00000561859,;UBFD1,non_coding_transcript_exon_variant,,ENST00000569919,;UBFD1,upstream_gene_variant,,ENST00000565634,;EARS2,upstream_gene_variant,,ENST00000564668,;UBFD1,downstream_gene_variant,,ENST00000566669,;EARS2,upstream_gene_variant,,ENST00000564997,;EARS2,upstream_gene_variant,,ENST00000562799,;EARS2,upstream_gene_variant,,ENST00000563499,;EARS2,upstream_gene_variant,,ENST00000562581,;	uc002dlv.2	c.450C>T	831/5110	1	1			c.450C>T						16	SNP	c.(448-450)ATC>ATT	5	5				0	Broad	ubiquitin-binding protein homolog			23570883		0.502	ENSG00000103353	16633	g.chr16:23570883C>T				Melanoma(22;290 1069 22358 48158)			Melanoma(22;290 1069 22358 48158)			80.305131	KEEP	18	13	-1	24	23	18	13	-1	81.493781	24	23	0.364865	1	0	0	0	0	0	0	1	0	--	--		0	T			EARS2_uc002dls.3_5'Flank|EARS2_uc002dlt.3_5'Flank|EARS2_uc002dlu.2_5'Flank	161	GBM-19-2619-TP	p.I150I	C	GGGCCAAGATCATGGTGGTTG	NM_019116	NP_061989	23570883	O14562	UBFD1_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0331)	3	652	+	T	T			Silent	150			Ubiquitin-like.			
UBIAD1	0	broad.mit.edu	GRCh37	1	11334002	11334002	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-14-1829-01	TCGA-14-1829-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376810.5:c.414C>G	p.Leu138=	p.L138=	ENST00000376810	NM_013319.2	138	ctC/ctG	0			1			G	L	uc001asg.2	protein_coding	YES	CCDS129.1			414/1017										0	c.(412-414)CTC>CTG			Pfam_domain:PF01040,PIRSF_domain:PIRSF005355,hmmpanther:PTHR13929,hmmpanther:PTHR13929:SF5,Transmembrane_helices:TMhelix	UbiA prenyltransferase domain containing 1				ENSP00000366006		2-Jan									COSM3399542	2-Jan	.		ENST00000376810	Transcript	1		menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity	ENSG00000120942	g.chr1:11334002C>G	30791			LOW								--	--	1																																			1	1			p.L138L	NM_013319	NP_037451			1	UBIA1_HUMAN	UBIAD1	HGNC	Q9Y5Z9	UBIA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)			1	748	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	UPI0000073E35	138			Helical; (Potential).		SNV	UBIAD1,synonymous_variant,p.=,ENST00000376810,NM_013319.2;UBIAD1,synonymous_variant,p.=,ENST00000483738,;UBIAD1,synonymous_variant,p.=,ENST00000376804,;UBIAD1,synonymous_variant,p.=,ENST00000486588,;UBE2V2P3,downstream_gene_variant,,ENST00000433562,;	uc001asg.2	c.414C>G	740/3646	3	3			c.414C>G						1	SNP	c.(412-414)CTC>CTG	14	14				0	Broad	UbiA prenyltransferase domain containing 1			11334002		0.537	ENSG00000120942	16634	g.chr1:11334002C>G	menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity							107.905877	KEEP	23	14	-1	43	50	23	14	-1	111.90744	43	50	0.300885	1	0	0	0	0	0	0	1	0	--	--		0	G				149	GBM-14-1829-TP	p.L138L	C	GAGTCTTCCTCTACACGTTGG	NM_013319	NP_037451	11334002	Q9Y5Z9	UBIA1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)	1	748	+	G	G	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	Silent	138			Helical; (Potential).			
UBN1	29855	broad.mit.edu	GRCh37	16	4909917	4909917	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396658.4:c.619G>A	p.Asp207Asn	p.D207N	ENST00000396658	NM_016936.3	207	Gac/Aac	0			1			A	D/N	uc002cyb.2	protein_coding		CCDS10525.1			619/3405									skin(2)	2	c.(619-621)GAC>AAC			hmmpanther:PTHR16426,hmmpanther:PTHR16426:SF14,Low_complexity_(Seg):seg	ubinuclein 1				ENSP00000262376		18-Jun									COSM2152130	18-Jun	.		ENST00000262376	Transcript			chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000118900	g.chr16:4909917G>A	12506			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=UBN1_HUMAN&rb=187&re=352&var=D207N	NA	getma.org/?cm=var&var=hg19,16,4909917,G,A&fts=all	D207N	--	--	1																																		UBN1_uc010uxw.1_Missense_Mutation_p.D207N|UBN1_uc002cyc.2_Missense_Mutation_p.D207N	1			probably_damaging(0.998)	p.D207N	NM_001079514	NP_001072982		deleterious(0.02)	1	UBN1_HUMAN	UBN1	HGNC	Q9NPG3	UBN1_HUMAN			K7EQR1_HUMAN		6	958	+			UPI0000071469	207			Lys-rich.		SNV	UBN1,missense_variant,p.Asp207Asn,ENST00000396658,NM_016936.3;UBN1,missense_variant,p.Asp207Asn,ENST00000262376,NM_001079514.1;UBN1,missense_variant,p.Asp207Asn,ENST00000545171,NM_001288656.1;UBN1,missense_variant,p.Asp207Asn,ENST00000590769,;UBN1,downstream_gene_variant,,ENST00000592120,;UBN1,upstream_gene_variant,,ENST00000585857,;UBN1,3_prime_UTR_variant,,ENST00000587027,;	uc002cyb.2	c.619G>A	1238/6252	2	2			c.619G>A						16	SNP	c.(619-621)GAC>AAC	47	47			skin(2)	2	Broad	ubinuclein 1			4909917		0.443	ENSG00000118900	16641	g.chr16:4909917G>A	chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity							99.95834	KEEP	20	20	-1	30	25	20	20	-1	100.493899	30	25	0.4125	1	0	0	0	0	1	0	0	0	--	--		0	A			UBN1_uc010uxw.1_Missense_Mutation_p.D207N|UBN1_uc002cyc.2_Missense_Mutation_p.D207N	73	GBM-06-0877-TP	p.D207N	G	GAAAAAAGATGACACTTATGA	NM_001079514	NP_001072982	4909917	Q9NPG3	UBN1_HUMAN	0			6	958	+	A	A			Missense_Mutation	207			Lys-rich.			
UBN2	254048	broad.mit.edu	GRCh37	7	138969015	138969015	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-2559-01	TCGA-06-2559-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000473989.3:c.3364C>A	p.Gln1122Lys	p.Q1122K	ENST00000473989	NM_173569.3	1122	Cag/Aag	0			1			A	Q/K	uc011kqr.1	protein_coding	YES	CCDS43655.2			3364/4044									ovary(1)|skin(1)	2	c.(3364-3366)CAG>AAG			hmmpanther:PTHR16426,hmmpanther:PTHR16426:SF15	ubinuclein 2				ENSP00000418648		15/18									COSM3411645	15/18	.		ENST00000473989	Transcript						ENSG00000157741	g.chr7:138969015C>A	21931			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=UBN2_HUMAN&rb=791&re=1346&var=Q1122K	NA	getma.org/?cm=var&var=hg19,7,138969015,C,A&fts=all	Q1122K	--	--	1																																			1	1		benign(0.218)	p.Q1122K	NM_173569	NP_775840		deleterious_low_confidence(0.05)	1	UBN2_HUMAN	UBN2	HGNC	Q6ZU65	UBN2_HUMAN			C9J6Y5_HUMAN		15	3364	+			UPI00001D74DF	1122			Ser-rich.		SNV	UBN2,missense_variant,p.Gln1122Lys,ENST00000473989,NM_173569.3;UBN2,missense_variant,p.Gln1039Lys,ENST00000288561,;	uc011kqr.1	c.3364C>A	3364/14444	2	2			c.3364C>A						7	SNP	c.(3364-3366)CAG>AAG	45	45			ovary(1)|skin(1)	2	Broad	ubinuclein 2			138969015		0.498	ENSG00000157741	16642	g.chr7:138969015C>A										-30.746138	KEEP	3	1	0.25	75	102	3	1	0.25	7.560295	75	102	0.025974	1	0	0	0	0	1	0	0	0	--	--		0	A				83	GBM-06-2559-TP	p.Q1122K	C	CATCAGCAGACAGTCTCCCAC	NM_173569	NP_775840	138969015	Q6ZU65	UBN2_HUMAN	0			15	3364	+	A	A			Missense_Mutation	1122			Ser-rich.			
UBN2	254048	broad.mit.edu	GRCh37	7	138978177	138978177	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5408-01	TCGA-06-5408-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000473989.3:c.3869C>T	p.Thr1290Ile	p.T1290I	ENST00000473989	NM_173569.3	1290	aCc/aTc	0			1			T	T/I	uc011kqr.1	protein_coding	YES	CCDS43655.2			3869/4044									ovary(1)|skin(1)	2	c.(3868-3870)ACC>ATC			Low_complexity_(Seg):seg,hmmpanther:PTHR16426,hmmpanther:PTHR16426:SF15	ubinuclein 2				ENSP00000418648		16/18									COSM3411646	16/18	.		ENST00000473989	Transcript						ENSG00000157741	g.chr7:138978177C>T	21931			MODERATE		1.355	low	getma.org/?cm=msa&ty=f&p=UBN2_HUMAN&rb=791&re=1346&var=T1290I	NA	getma.org/?cm=var&var=hg19,7,138978177,C,T&fts=all	T1290I	--	--	1																																			1	1		probably_damaging(0.996)	p.T1290I	NM_173569	NP_775840		deleterious_low_confidence(0)	1	UBN2_HUMAN	UBN2	HGNC	Q6ZU65	UBN2_HUMAN			C9J6Y5_HUMAN		16	3869	+			UPI00001D74DF	1290					SNV	UBN2,missense_variant,p.Thr1290Ile,ENST00000473989,NM_173569.3;UBN2,missense_variant,p.Thr1207Ile,ENST00000288561,;UBN2,upstream_gene_variant,,ENST00000609762,;	uc011kqr.1	c.3869C>T	3869/14444	2	2			c.3869C>T						7	SNP	c.(3868-3870)ACC>ATC	47	47			ovary(1)|skin(1)	2	Broad	ubinuclein 2			138978177		0.502	ENSG00000157741	16642	g.chr7:138978177C>T										101.864738	KEEP	19	23	-1	37	52	19	23	-1	104.774134	37	52	0.327273	1	0	0	0	0	1	0	0	0	--	--		0	T				92	GBM-06-5408-TP	p.T1290I	C	TCGGGATCTACCTCAGCCGCT	NM_173569	NP_775840	138978177	Q6ZU65	UBN2_HUMAN	0			16	3869	+	T	T			Missense_Mutation	1290						
UBP1	7342		GRCh37	3	33454282	33454282	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000283629.3:c.380A>G	p.Gln127Arg	p.Q127R	ENST00000283629	NM_014517.4	127	cAa/cGa	0																																																																																																																																																																																																																																												
UBQLN2	29978	broad.mit.edu	GRCh37	X	56592046	56592046	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0241-01	TCGA-06-0241-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338222.5:c.1740C>T	p.Val580=	p.V580=	ENST00000338222	NM_013444.3	580	gtC/gtT	0			1			T	V	uc004dus.2	protein_coding	YES	CCDS14374.1			1740/1875									ovary(1)|skin(1)	2	c.(1738-1740)GTC>GTT			Superfamily_domains:SSF46934,Gene3D:1.10.8.10,hmmpanther:PTHR10677,hmmpanther:PTHR10677:SF5	ubiquilin 2				ENSP00000345195		1-Jan									COSM2151183	1-Jan	.		ENST00000338222	Transcript	1			cytoplasm|nucleus|plasma membrane	binding	ENSG00000188021	g.chrX:56592046C>T	12509			LOW								--	--	1																																		UBQLN2_uc011moq.1_Silent_p.V468V	1	1			p.V580V	NM_013444	NP_038472			1	UBQL2_HUMAN	UBQLN2	HGNC	Q9UHD9	UBQL2_HUMAN					1	1975	+			UPI000004A059	580					SNV	UBQLN2,synonymous_variant,p.=,ENST00000338222,NM_013444.3;	uc004dus.2	c.1740C>T	2021/3418	2	2			c.1740C>T						23	SNP	c.(1738-1740)GTC>GTT	18	18			ovary(1)|skin(1)	2	Broad	ubiquilin 2			56592046		0.512	ENSG00000188021	16646	g.chrX:56592046C>T		cytoplasm|nucleus|plasma membrane	binding	Esophageal Squamous(104;218 1492 6022 10838 28884)			Esophageal Squamous(104;218 1492 6022 10838 28884)			77.114608	KEEP	19	18	-1	22	23	19	18	-1	77.207301	22	23	0.457627	1	0	0	0	0	0	0	1	0	--	--		0	T			UBQLN2_uc011moq.1_Silent_p.V468V	57	GBM-06-0241-TP	p.V580V	C	ATCCAGAAGTCAGATTTCAGC	NM_013444	NP_038472	56592046	Q9UHD9	UBQL2_HUMAN	0			1	1975	+	T	T			Silent	580						
UBQLN2	29978		GRCh37	X	56590893	56590893	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000338222.5:c.587C>T	p.Ser196Leu	p.S196L	ENST00000338222	NM_013444.3	196	tCg/tTg	0																																																																																																																																																																																																																																												
UBQLN3	50613	broad.mit.edu	GRCh37	11	5529867	5529867	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0686-01	TCGA-06-0686-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311659.4:c.922T>A	p.Ser308Thr	p.S308T	ENST00000311659	NM_017481.2	308	Tcc/Acc	0			1			T	S/T	uc001may.1	protein_coding	YES	CCDS7758.1			922/1968									ovary(3)	3	c.(922-924)TCC>ACC			hmmpanther:PTHR10677,hmmpanther:PTHR10677:SF4	ubiquilin 3				ENSP00000347997		2-Feb									COSM3397774	2-Feb	.		ENST00000311659	Transcript						ENSG00000175520	g.chr11:5529867A>T	12510			MODERATE		2.05	medium	getma.org/?cm=msa&ty=f&p=UBQL3_HUMAN&rb=295&re=494&var=S308T	NA	getma.org/?cm=var&var=hg19,11,5529867,A,T&fts=all	S308T	--	--	1																																		HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank	1	1		benign(0.029)	p.S308T	NM_017481	NP_059509		tolerated(0.26)	1	UBQL3_HUMAN	UBQLN3	HGNC	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	C9IYQ4_HUMAN		2	1008	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	UPI000006E3A0	308					SNV	UBQLN3,missense_variant,p.Ser308Thr,ENST00000311659,NM_017481.2;HBG2,intron_variant,,ENST00000380259,;HBE1,upstream_gene_variant,,ENST00000380237,;UBQLN3,downstream_gene_variant,,ENST00000445998,;HBG2,upstream_gene_variant,,ENST00000380252,;HBE1,upstream_gene_variant,,ENST00000396895,;AC104389.28,upstream_gene_variant,,ENST00000415970,;AC104389.28,upstream_gene_variant,,ENST00000418729,;AC104389.28,upstream_gene_variant,,ENST00000420465,;AC104389.28,upstream_gene_variant,,ENST00000420726,;	uc001may.1	c.922T>A	1070/2407	2	2			c.922T>A						11	SNP	c.(922-924)TCC>ACC	28	28			ovary(3)	3	Broad	ubiquilin 3			5529867		0.517	ENSG00000175520	16647	g.chr11:5529867A>T				Ovarian(72;684 1260 12332 41642 52180)			Ovarian(72;684 1260 12332 41642 52180)			-17.043232	KEEP	6	1	-1	82	46	6	1	-1	10.958386	82	46	0.046875	1	0	0	0	0	1	0	0	0	--	--		0	T			HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank	64	GBM-06-0686-TP	p.S308T	A	CCATGTGTGGAAGTCCAGGGG	NM_017481	NP_059509	5529867	Q9H347	UBQL3_HUMAN	0		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1008	-	T	T		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	Missense_Mutation	308						
UBQLN3	0	broad.mit.edu	GRCh37	11	5529360	5529360	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-4068-01	TCGA-19-4068-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311659.4:c.1429C>T	p.Leu477=	p.L477=	ENST00000311659	NM_017481.2	477	Ctg/Ttg	0			1			A	L	uc001may.1	protein_coding	YES	CCDS7758.1			1429/1968									ovary(3)	3	c.(1429-1431)CTG>TTG			hmmpanther:PTHR10677,hmmpanther:PTHR10677:SF4	ubiquilin 3				ENSP00000347997		2-Feb									COSM2156459	2-Feb	.		ENST00000311659	Transcript						ENSG00000175520	g.chr11:5529360G>A	12510			LOW								--	--	1																																		HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank	1	1			p.L477L	NM_017481	NP_059509			1	UBQL3_HUMAN	UBQLN3	HGNC	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	C9IYQ4_HUMAN		2	1515	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	UPI000006E3A0	477					SNV	UBQLN3,synonymous_variant,p.=,ENST00000311659,NM_017481.2;HBG2,intron_variant,,ENST00000380259,;HBE1,upstream_gene_variant,,ENST00000380237,;UBQLN3,downstream_gene_variant,,ENST00000445998,;HBG2,upstream_gene_variant,,ENST00000380252,;HBE1,upstream_gene_variant,,ENST00000396895,;AC104389.28,upstream_gene_variant,,ENST00000415970,;AC104389.28,upstream_gene_variant,,ENST00000418729,;AC104389.28,upstream_gene_variant,,ENST00000420465,;AC104389.28,upstream_gene_variant,,ENST00000420726,;	uc001may.1	c.1429C>T	1577/2407	1	1			c.1429C>T						11	SNP	c.(1429-1431)CTG>TTG	60	60			ovary(3)	3	Broad	ubiquilin 3			5529360		0.552	ENSG00000175520	16647	g.chr11:5529360G>A				Ovarian(72;684 1260 12332 41642 52180)			Ovarian(72;684 1260 12332 41642 52180)			132.88312	KEEP	20	37	-1	55	43	20	37	-1	135.746652	55	43	0.345588	1	0	0	0	0	0	0	1	0	--	--		0	A			HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank	168	GBM-19-4068-TP	p.L477L	G	GGGGATGGCAGCCAGGGAGGC	NM_017481	NP_059509	5529360	Q9H347	UBQL3_HUMAN	0		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1515	-	A	A		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	Silent	477						
UBQLN3	0	broad.mit.edu	GRCh37	11	5529918	5529920	+	inframe_deletion	In_Frame_Del	DEL	TGG	TGG	-	rs2234451	byFrequency;by1000genomes	TCGA-26-5135-01	TCGA-26-5135-01	TGG	TGG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311659.4:c.869_871delCCA	p.Thr290del	p.T290del	ENST00000311659	NM_017481.2	290	aCCAgc/agc	0			1			-	TS/S	uc001may.1	protein_coding	YES	CCDS7758.1			869-871/1968									ovary(3)	3	c.(868-873)ACCAGC>AGC			Low_complexity_(Seg):seg,hmmpanther:PTHR10677,hmmpanther:PTHR10677:SF4	ubiquilin 3				ENSP00000347997		2-Feb	0.000272	0.000385	8.64E-05	0.000347	0.000302	0.000195		0.000304	rs752675976,COSM1724855	2-Feb	.		ENST00000311659	Transcript						ENSG00000175520	g.chr11:5529918_5529920delTGG	12510			MODERATE								--	--	1																																		HBG2_uc001mak.1_Intron	0,1	1			p.T290del	NM_017481	NP_059509			0,1	UBQL3_HUMAN	UBQLN3	HGNC	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	C9IYQ4_HUMAN		2	955_957	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	UPI000006E3A0	290					deletion	UBQLN3,inframe_deletion,p.Thr290del,ENST00000311659,NM_017481.2;HBG2,intron_variant,,ENST00000380259,;HBE1,upstream_gene_variant,,ENST00000380237,;UBQLN3,downstream_gene_variant,,ENST00000445998,;HBG2,upstream_gene_variant,,ENST00000380252,;HBE1,upstream_gene_variant,,ENST00000396895,;AC104389.28,upstream_gene_variant,,ENST00000415970,;AC104389.28,upstream_gene_variant,,ENST00000418729,;AC104389.28,upstream_gene_variant,,ENST00000420465,;AC104389.28,upstream_gene_variant,,ENST00000420726,;	uc001may.1	c.869_871delCCA	1017-1019/2407	5	5			c.869_871delCCA						11	DEL	c.(868-873)ACCAGC>AGC	29	29			ovary(3)	3	Broad	ubiquilin 3			5529920		0.537	ENSG00000175520	16647	g.chr11:5529918_5529920delTGG				Ovarian(72;684 1260 12332 41642 52180)			Ovarian(72;684 1260 12332 41642 52180)																0.02	1	1	0	1	0	0	0	0	0	--	--		0	-			HBG2_uc001mak.1_Intron	184	GBM-26-5135-TP	p.T290del	TGG	GAAGGTTGGCTGGTGGTGGTGGT	NM_017481	NP_059509	5529918	Q9H347	UBQL3_HUMAN	0		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	955_957	-	-	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	In_Frame_Del	290						
UBQLN3	0	broad.mit.edu	GRCh37	11	5529018	5529018	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311659.4:c.1771C>T	p.Leu591Phe	p.L591F	ENST00000311659	NM_017481.2	591	Ctt/Ttt	0			1			A	L/F	uc001may.1	protein_coding	YES	CCDS7758.1			1771/1968									ovary(3)	3	c.(1771-1773)CTT>TTT			hmmpanther:PTHR10677,hmmpanther:PTHR10677:SF4	ubiquilin 3				ENSP00000347997		2-Feb									COSM3397773	2-Feb	.		ENST00000311659	Transcript						ENSG00000175520	g.chr11:5529018G>A	12510			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=UBQL3_HUMAN&rb=495&re=616&var=L591F	NA	getma.org/?cm=var&var=hg19,11,5529018,G,A&fts=all	L591F	--	--	1																																		HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank	1	1		benign(0.126)	p.L591F	NM_017481	NP_059509		tolerated(0.75)	1	UBQL3_HUMAN	UBQLN3	HGNC	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	C9IYQ4_HUMAN		2	1857	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	UPI000006E3A0	591					SNV	UBQLN3,missense_variant,p.Leu591Phe,ENST00000311659,NM_017481.2;HBG2,intron_variant,,ENST00000380259,;HBE1,upstream_gene_variant,,ENST00000380237,;UBQLN3,downstream_gene_variant,,ENST00000445998,;HBG2,upstream_gene_variant,,ENST00000380252,;HBE1,upstream_gene_variant,,ENST00000396895,;AC104389.28,upstream_gene_variant,,ENST00000415970,;AC104389.28,upstream_gene_variant,,ENST00000418729,;AC104389.28,upstream_gene_variant,,ENST00000420465,;AC104389.28,upstream_gene_variant,,ENST00000420726,;	uc001may.1	c.1771C>T	1919/2407	1	1			c.1771C>T						11	SNP	c.(1771-1773)CTT>TTT	61	61			ovary(3)	3	Broad	ubiquilin 3			5529018		0.527	ENSG00000175520	16647	g.chr11:5529018G>A				Ovarian(72;684 1260 12332 41642 52180)			Ovarian(72;684 1260 12332 41642 52180)			110.039464	KEEP	22	24	-1	85	82	22	24	-1	124.037702	85	82	0.21875	1	0	0	0	0	1	0	0	0	--	--		0	A			HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank	249	GBM-32-5222-TP	p.L591F	G	GGAGGGGAAAGGAAGCCCAGC	NM_017481	NP_059509	5529018	Q9H347	UBQL3_HUMAN	0		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1857	-	A	A		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	Missense_Mutation	591						
UBQLN4	0	broad.mit.edu	GRCh37	1	156011962	156011962	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-19-2619-01	TCGA-19-2619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368309.3:c.1332C>G	p.Leu444=	p.L444=	ENST00000368309	NM_020131.3	444	ctC/ctG	0			1			C	L	uc001fna.2	protein_coding	YES	CCDS1127.1			1332/1806									pancreas(1)|skin(1)	2	c.(1330-1332)CTC>CTG			hmmpanther:PTHR10677,hmmpanther:PTHR10677:SF20,Low_complexity_(Seg):seg,SMART_domains:SM00727	ataxin-1 ubiquitin-like interacting protein				ENSP00000357292		11-Aug	8.24E-06		8.65E-05						rs755389474,COSM2156145	11-Aug	.		ENST00000368309	Transcript				cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding	ENSG00000160803	g.chr1:156011962G>C	1237			LOW								--	--	1																																		UBQLN4_uc010pgx.1_Silent_p.L424L	0,1	1			p.L444L	NM_020131	NP_064516			0,1	UBQL4_HUMAN	UBQLN4	HGNC	Q9NRR5	UBQL4_HUMAN					8	1356	-	Hepatocellular(266;0.133)|all_neural(408;0.195)		UPI000013E0AB	444					SNV	UBQLN4,synonymous_variant,p.=,ENST00000368309,NM_020131.3;UBQLN4,non_coding_transcript_exon_variant,,ENST00000459954,;	uc001fna.2	c.1332C>G	1425/3576	4	4			c.1332C>G						1	SNP	c.(1330-1332)CTC>CTG	35	35			pancreas(1)|skin(1)	2	Broad	ataxin-1 ubiquitin-like interacting protein			156011962		0.617	ENSG00000160803	16648	g.chr1:156011962G>C		cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding							65.064745	KEEP	25	26	-1	138	139	25	26	-1	95.514796	138	139	0.133047	1	0	0	0	0	0	0	1	0	--	--		0	C			UBQLN4_uc010pgx.1_Silent_p.L424L	161	GBM-19-2619-TP	p.L444L	G	GGAAGACTGGGAGCTGCAGGC	NM_020131	NP_064516	156011962	Q9NRR5	UBQL4_HUMAN	0			8	1356	-	C	C	Hepatocellular(266;0.133)|all_neural(408;0.195)		Silent	444						
UBQLN4	0	broad.mit.edu	GRCh37	1	156021545	156021545	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-19-2619-01	TCGA-19-2619-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368309.3:c.212G>C	p.Gly71Ala	p.G71A	ENST00000368309	NM_020131.3	71	gGa/gCa	0			1			G	G/A	uc001fna.2	protein_coding	YES	CCDS1127.1			212/1806									pancreas(1)|skin(1)	2	c.(211-213)GGA>GCA			Gene3D:3.10.20.90,Pfam_domain:PF00240,PROSITE_profiles:PS50053,hmmpanther:PTHR10677,hmmpanther:PTHR10677:SF20,SMART_domains:SM00213,Superfamily_domains:SSF54236	ataxin-1 ubiquitin-like interacting protein				ENSP00000357292		11-Feb									COSM2156139	11-Feb	.		ENST00000368309	Transcript				cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding	ENSG00000160803	g.chr1:156021545C>G	1237			MODERATE		2.02	medium	getma.org/?cm=msa&ty=f&p=UBQL4_HUMAN&rb=18&re=85&var=G71A	getma.org/pdb.php?prot=UBQL4_HUMAN&from=18&to=85&var=G71A	getma.org/?cm=var&var=hg19,1,156021545,C,G&fts=all	G71A	--	--	1																																		UBQLN4_uc010pgx.1_Missense_Mutation_p.G71A|ROBLD3_uc001fnb.3_5'Flank|ROBLD3_uc010pgy.1_5'Flank	1	1		unknown(0)	p.G71A	NM_020131	NP_064516		deleterious(0)	1	UBQL4_HUMAN	UBQLN4	HGNC	Q9NRR5	UBQL4_HUMAN					2	236	-	Hepatocellular(266;0.133)|all_neural(408;0.195)		UPI000013E0AB	71			Ubiquitin-like.		SNV	UBQLN4,missense_variant,p.Gly71Ala,ENST00000368309,NM_020131.3;LAMTOR2,upstream_gene_variant,,ENST00000368305,NM_014017.3;LAMTOR2,upstream_gene_variant,,ENST00000368302,;LAMTOR2,upstream_gene_variant,,ENST00000368304,NM_001145264.1;UBQLN4,non_coding_transcript_exon_variant,,ENST00000472638,;LAMTOR2,upstream_gene_variant,,ENST00000489664,;LAMTOR2,upstream_gene_variant,,ENST00000487106,;LAMTOR2,upstream_gene_variant,,ENST00000463371,;	uc001fna.2	c.212G>C	305/3576	3	3			c.212G>C						1	SNP	c.(211-213)GGA>GCA	51	51			pancreas(1)|skin(1)	2	Broad	ataxin-1 ubiquitin-like interacting protein			156021545		0.537	ENSG00000160803	16648	g.chr1:156021545C>G		cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding							384.25671	KEEP	63	56	-1	84	58	63	56	-1	384.565954	84	58	0.460526	1	0	0	0	0	1	0	0	0	--	--		0	G			UBQLN4_uc010pgx.1_Missense_Mutation_p.G71A|ROBLD3_uc001fnb.3_5'Flank|ROBLD3_uc010pgy.1_5'Flank	161	GBM-19-2619-TP	p.G71A	C	GTCCTTGATTCCGTGCTGGTT	NM_020131	NP_064516	156021545	Q9NRR5	UBQL4_HUMAN	0			2	236	-	G	G	Hepatocellular(266;0.133)|all_neural(408;0.195)		Missense_Mutation	71			Ubiquitin-like.			
UBR1	197131	broad.mit.edu	GRCh37	15	43317593	43317593	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-6390-01	TCGA-06-6390-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290650.4:c.2570A>G	p.Glu857Gly	p.E857G	ENST00000290650	NM_174916.2	857	gAa/gGa	0			1			C	E/G	uc001zqq.2	protein_coding	YES	CCDS10091.1			2570/5250									lung(1)	1	c.(2569-2571)GAA>GGA			hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF27	ubiquitin protein ligase E3 component n-recognin				ENSP00000290650		24/47									COSM2153434	24/47	.		ENST00000290650	Transcript	1		cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	ENSG00000159459	g.chr15:43317593T>C	16808			MODERATE		1.905	medium	getma.org/?cm=msa&ty=f&p=UBR1_HUMAN&rb=703&re=902&var=E857G	NA	getma.org/?cm=var&var=hg19,15,43317593,T,C&fts=all	E857G	--	--	1																																		UBR1_uc010udk.1_Missense_Mutation_p.E857G	1	1		benign(0.21)	p.E857G	NM_174916	NP_777576		tolerated(0.12)	1	UBR1_HUMAN	UBR1	HGNC	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)			24	2636	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	UPI0000074467	857					SNV	UBR1,missense_variant,p.Glu857Gly,ENST00000290650,NM_174916.2;UBR1,missense_variant,p.Glu47Gly,ENST00000569243,;UBR1,3_prime_UTR_variant,,ENST00000382177,;UBR1,missense_variant,p.Glu57Gly,ENST00000564540,;UBR1,3_prime_UTR_variant,,ENST00000569066,;UBR1,non_coding_transcript_exon_variant,,ENST00000546274,;	uc001zqq.2	c.2570A>G	2649/7761	4	4			c.2570A>G						15	SNP	c.(2569-2571)GAA>GGA	45	45			lung(1)	1	Broad	ubiquitin protein ligase E3 component n-recognin			43317593		0.299	ENSG00000159459	16650	g.chr15:43317593T>C	cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding							43.500663	KEEP	0	14	-1	7	15	0	14	-1	43.936316	7	15	0.375	1	0	0	0	0	1	0	0	0	--	--		0	C			UBR1_uc010udk.1_Missense_Mutation_p.E857G	106	GBM-06-6390-TP	p.E857G	T	ATCTTTGTTTTCTTGTTTTCT	NM_174916	NP_777576	43317593	Q8IWV7	UBR1_HUMAN	0		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	24	2636	-	C	C		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	Missense_Mutation	857						
UBR1	0	broad.mit.edu	GRCh37	15	43269028	43269028	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-87-5896-01	TCGA-87-5896-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290650.4:c.4256A>T	p.Asp1419Val	p.D1419V	ENST00000290650	NM_174916.2	1419	gAt/gTt	0			1			A	D/V	uc001zqq.2	protein_coding	YES	CCDS10091.1			4256/5250									lung(1)	1	c.(4255-4257)GAT>GTT			hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF27	ubiquitin protein ligase E3 component n-recognin				ENSP00000290650		39/47									COSM3401739	39/47	.		ENST00000290650	Transcript	1		cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	ENSG00000159459	g.chr15:43269028T>A	16808			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=UBR1_HUMAN&rb=1303&re=1502&var=D1419V	NA	getma.org/?cm=var&var=hg19,15,43269028,T,A&fts=all	D1419V	--	--	1																																			1	1		benign(0.166)	p.D1419V	NM_174916	NP_777576		deleterious(0.02)	1	UBR1_HUMAN	UBR1	HGNC	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)			39	4322	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	UPI0000074467	1419					SNV	UBR1,missense_variant,p.Asp1419Val,ENST00000290650,NM_174916.2;UBR1,3_prime_UTR_variant,,ENST00000382177,;	uc001zqq.2	c.4256A>T	4335/7761	2	2			c.4256A>T						15	SNP	c.(4255-4257)GAT>GTT	38	38			lung(1)	1	Broad	ubiquitin protein ligase E3 component n-recognin			43269028		0.388	ENSG00000159459	16650	g.chr15:43269028T>A	cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding							48.561201	KEEP	6	12	-1	16	11	6	12	-1	49.060068	16	11	0.386364	1	0	0	0	0	1	0	0	0	--	--		0	A				291	GBM-87-5896-TP	p.D1419V	T	AACAGGGTCATCCCAATACAA	NM_174916	NP_777576	43269028	Q8IWV7	UBR1_HUMAN	0		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	39	4322	-	A	A		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	Missense_Mutation	1419						
UBR3	130507	broad.mit.edu	GRCh37	2	170929938	170929940	+	inframe_deletion,splice_region_variant	In_Frame_Del	DEL	GAA	GAA	-			TCGA-06-2559-01	TCGA-06-2559-01	GAA	GAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000418381.1:c.5029_5031del	p.Glu1677del	p.E1677del	ENST00000418381	NM_172070.3	1674	GAA/-	0			1			-	E/-	uc010zdi.1	protein_coding					5020-5022/5667										0	c.(5020-5022)GAAdel			hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF25	E3 ubiquitin-protein ligase UBR3				ENSP00000272793		36/39	1.65E-05					1.50E-05		6.06E-05	rs756945286,COSM2152685,COSM2152686	36/39	.		ENST00000272793	Transcript			sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	ENSG00000144357	g.chr2:170929938_170929940delGAA	30467	9		MODERATE								--	--	1																																		UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_In_Frame_Del_p.E498del|UBR3_uc002uft.3_In_Frame_Del_p.E534del|UBR3_uc010zdj.1_In_Frame_Del_p.E368del|UBR3_uc002ufu.3_In_Frame_Del_p.E183del	0,1,1				p.E1677del	NM_172070	NP_742067			0,1,1	UBR3_HUMAN	UBR3	HGNC	Q6ZT12	UBR3_HUMAN			Q68DC1_HUMAN		36	5020_5022	+			UPI00015FA088	1677					deletion	UBR3,inframe_deletion,p.Glu1677del,ENST00000272793,;UBR3,inframe_deletion,p.Glu1677del,ENST00000418381,NM_172070.3;UBR3,inframe_deletion,p.Glu739del,ENST00000392632,;UBR3,inframe_deletion,p.Glu498del,ENST00000392631,;UBR3,inframe_deletion,p.Glu377del,ENST00000439681,;UBR3,splice_region_variant,,ENST00000474426,;UBR3,splice_region_variant,,ENST00000444475,;UBR3,3_prime_UTR_variant,,ENST00000430321,;AC092641.2,downstream_gene_variant,,ENST00000440229,;	uc010zdi.1	c.5020_5022delGAA	5070-5072/8005	5	5			c.5020_5022delGAA						2	DEL	c.(5020-5022)GAAdel	25	25				0	Broad	E3 ubiquitin-protein ligase UBR3			170929940		0.379	ENSG00000144357	16652	g.chr2:170929938_170929940delGAA	sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding																				0.32	1	1	0	1	0	0	0	0	0	--	--		0	-			UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_In_Frame_Del_p.E498del|UBR3_uc002uft.3_In_Frame_Del_p.E534del|UBR3_uc010zdj.1_In_Frame_Del_p.E368del|UBR3_uc002ufu.3_In_Frame_Del_p.E183del	83	GBM-06-2559-TP	p.E1677del	GAA	TGTCTAAAAGGAAGAAGAAGAAT	NM_172070	NP_742067	170929938	Q6ZT12	UBR3_HUMAN	0			36	5020_5022	+	-	-			In_Frame_Del	1677						
UBR4	23352	broad.mit.edu	GRCh37	1	19492180	19492180	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01	TCGA-06-0122-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375254.3:c.4181G>A	p.Arg1394His	p.R1394H	ENST00000375254	NM_020765.2	1394	cGt/cAt	0			1			T	R/H	uc001bbi.2	protein_coding	YES	CCDS189.1			4181/15552								p.R1394H(2)	kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25	c.(4180-4182)CGT>CAT			hmmpanther:PTHR21725,Superfamily_domains:SSF48371	retinoblastoma-associated factor 600				ENSP00000364403		30/106	3.29E-05		0.000173			3.00E-05			rs756549939,COSM30415,COSM3400138	30/106	.		ENST00000375254	Transcript			interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000127481	g.chr1:19492180C>T	30313			MODERATE		1.24	low	getma.org/?cm=msa&ty=f&p=UBR4_HUMAN&rb=27&re=1659&var=R1394H	NA	getma.org/?cm=var&var=hg19,1,19492180,C,T&fts=all	R1394H	--	--	1																																		UBR4_uc001bbm.1_Missense_Mutation_p.R605H	0,1,1	1		probably_damaging(0.975)	p.R1394H	NM_020765	NP_065816			0,1,1	UBR4_HUMAN	UBR4	HGNC	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	Q96HY5_HUMAN		30	4185	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	UPI000021276F	1394		R -> H (in a breast cancer sample; somatic mutation).			SNV	UBR4,missense_variant,p.Arg1394His,ENST00000375267,;UBR4,missense_variant,p.Arg1394His,ENST00000375254,NM_020765.2;UBR4,missense_variant,p.Arg1394His,ENST00000375217,;UBR4,missense_variant,p.Arg1394His,ENST00000375226,;UBR4,missense_variant,p.Arg104His,ENST00000417040,;UBR4,non_coding_transcript_exon_variant,,ENST00000419533,;	uc001bbi.2	c.4181G>A	4209/15906	2	2			c.4181G>A						1	SNP	c.(4180-4182)CGT>CAT	17	17		p.R1394H(2)	kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25	Broad	retinoblastoma-associated factor 600			19492180		0.433	ENSG00000127481	16653	g.chr1:19492180C>T	interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding							63.525544	KEEP	12	12	-1	24	14	12	12	-1	64.009856	24	14	0.4	1	0	0	0	0	1	0	0	0	--	--		0	T			UBR4_uc001bbm.1_Missense_Mutation_p.R605H	10	GBM-06-0122-TP	p.R1394H	C	CATAGCTTTACGAGCCTGGCT	NM_020765	NP_065816	19492180	Q5T4S7	UBR4_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	30	4185	-	T	T		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	Missense_Mutation	1394		R -> H (in a breast cancer sample; somatic mutation).				
UBR4	0	broad.mit.edu	GRCh37	1	19484449	19484449	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01	TCGA-12-1597-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375254.3:c.5620C>T	p.Arg1874Trp	p.R1874W	ENST00000375254	NM_020765.2	1874	Cgg/Tgg	0			1			A	R/W	uc001bbi.2	protein_coding	YES	CCDS189.1			5620/15552									kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25	c.(5620-5622)CGG>TGG			hmmpanther:PTHR21725	retinoblastoma-associated factor 600				ENSP00000364403		40/106	8.24E-06		8.64E-05						rs746129496,COSM3400137,COSM3400136	40/106	.		ENST00000375254	Transcript			interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000127481	g.chr1:19484449G>A	30313			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=UBR4_HUMAN&rb=1731&re=1930&var=R1874W	NA	getma.org/?cm=var&var=hg19,1,19484449,G,A&fts=all	R1874W	--	--	1																																		UBR4_uc001bbl.1_5'Flank|UBR4_uc001bbm.1_Missense_Mutation_p.R1085W	0,1,1	1		probably_damaging(0.995)	p.R1874W	NM_020765	NP_065816			0,1,1	UBR4_HUMAN	UBR4	HGNC	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	Q96HY5_HUMAN		40	5624	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	UPI000021276F	1874					SNV	UBR4,missense_variant,p.Arg1874Trp,ENST00000375267,;UBR4,missense_variant,p.Arg1874Trp,ENST00000375254,NM_020765.2;UBR4,missense_variant,p.Arg1874Trp,ENST00000375217,;UBR4,missense_variant,p.Arg1874Trp,ENST00000375226,;UBR4,missense_variant,p.Arg584Trp,ENST00000417040,;UBR4,upstream_gene_variant,,ENST00000497018,;UBR4,non_coding_transcript_exon_variant,,ENST00000419533,;	uc001bbi.2	c.5620C>T	5648/15906	2	2			c.5620C>T						1	SNP	c.(5620-5622)CGG>TGG	24	24			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25	Broad	retinoblastoma-associated factor 600			19484449		0.537	ENSG00000127481	16653	g.chr1:19484449G>A	interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding							-36.58951	KEEP	1	4	-1	109	102	1	4	-1	8.827572	109	102	0.027174	1	0	0	0	0	1	0	0	0	--	--		0	A			UBR4_uc001bbl.1_5'Flank|UBR4_uc001bbm.1_Missense_Mutation_p.R1085W	124	GBM-12-1597-TP	p.R1874W	G	TAATTCATCCGCACATTCTCA	NM_020765	NP_065816	19484449	Q5T4S7	UBR4_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	40	5624	-	A	A		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	Missense_Mutation	1874						
UBR4	0	broad.mit.edu	GRCh37	1	19504071	19504071	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-26-6173-01	TCGA-26-6173-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375254.3:c.2521A>G	p.Ser841Gly	p.S841G	ENST00000375254	NM_020765.2	841	Agc/Ggc	0			1			C	S/G	uc001bbi.2	protein_coding	YES	CCDS189.1			2521/15552									kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25	c.(2521-2523)AGC>GGC			hmmpanther:PTHR21725,Superfamily_domains:SSF48371	retinoblastoma-associated factor 600				ENSP00000364403		19/106									COSM3747820,COSM3747819	19/106	.		ENST00000375254	Transcript			interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000127481	g.chr1:19504071T>C	30313			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=UBR4_HUMAN&rb=27&re=1659&var=S841G	NA	getma.org/?cm=var&var=hg19,1,19504071,T,C&fts=all	S841G	--	--	1																																		UBR4_uc001bbm.1_Missense_Mutation_p.S52G	1,1	1		benign(0.008)	p.S841G	NM_020765	NP_065816			1,1	UBR4_HUMAN	UBR4	HGNC	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	Q96HY5_HUMAN		19	2525	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	UPI000021276F	841					SNV	UBR4,missense_variant,p.Ser841Gly,ENST00000375267,;UBR4,missense_variant,p.Ser841Gly,ENST00000375254,NM_020765.2;UBR4,missense_variant,p.Ser841Gly,ENST00000375217,;UBR4,missense_variant,p.Ser841Gly,ENST00000375226,;UBR4,non_coding_transcript_exon_variant,,ENST00000419533,;	uc001bbi.2	c.2521A>G	2549/15906	3	3			c.2521A>G						1	SNP	c.(2521-2523)AGC>GGC	56	56			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25	Broad	retinoblastoma-associated factor 600			19504071		0.507	ENSG00000127481	16653	g.chr1:19504071T>C	interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding							-29.187401	KEEP	0	3	-1	72	75	0	3	-1	6.349036	72	75	0.021583	1	0	0	0	0	1	0	0	0	--	--		0	C			UBR4_uc001bbm.1_Missense_Mutation_p.S52G	187	GBM-26-6173-TP	p.S841G	T	ATGTTGACGCTCAACTCCTGG	NM_020765	NP_065816	19504071	Q5T4S7	UBR4_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	19	2525	-	C	C		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	Missense_Mutation	841						
UBR4	0	broad.mit.edu	GRCh37	1	19451182	19451182	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G			TCGA-28-5215-01	TCGA-28-5215-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375254.3:c.9441T>C	p.Gly3147=	p.G3147=	ENST00000375254	NM_020765.2	3147	ggT/ggC	0			1			G	G	uc001bbi.2	protein_coding	YES	CCDS189.1			9441/15552									kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25	c.(9439-9441)GGT>GGC			hmmpanther:PTHR21725	retinoblastoma-associated factor 600				ENSP00000364403		65/106									COSM3400135,COSM3400134	65/106	.		ENST00000375254	Transcript			interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000127481	g.chr1:19451182A>G	30313			LOW								--	--	1																																		UBR4_uc001bbk.1_Silent_p.G794G	1,1	1			p.G3147G	NM_020765	NP_065816			1,1	UBR4_HUMAN	UBR4	HGNC	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	Q96HY5_HUMAN		65	9445	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	UPI000021276F	3147					SNV	UBR4,splice_region_variant,p.=,ENST00000375267,;UBR4,splice_region_variant,p.=,ENST00000375254,NM_020765.2;UBR4,splice_region_variant,p.=,ENST00000375217,;UBR4,splice_region_variant,p.=,ENST00000375226,;UBR4,splice_region_variant,p.=,ENST00000417040,;UBR4,splice_region_variant,p.=,ENST00000425413,;UBR4,splice_region_variant,,ENST00000475973,;	uc001bbi.2	c.9441T>C	9469/15906	3	3			c.9441T>C						1	SNP	c.(9439-9441)GGT>GGC	63	63			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25	Broad	retinoblastoma-associated factor 600			19451182		0.413	ENSG00000127481	16653	g.chr1:19451182A>G	interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding							-36.795181	KEEP	2	2	-1	81	117	2	2	-1	6.615038	81	117	0.018072	1	0	0	0	0	0	0	1	0	--	--		0	G			UBR4_uc001bbk.1_Silent_p.G794G	222	GBM-28-5215-TP	p.G3147G	A	CAGCAGCATGACCCTGGGAGA	NM_020765	NP_065816	19451182	Q5T4S7	UBR4_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	65	9445	-	G	G		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	Silent	3147						
UBR5	51366	broad.mit.edu	GRCh37	8	103282370	103282370	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-02-0003-01	TCGA-02-0003-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000520539.1:c.7127G>T	p.Arg2376Ile	p.R2376I	ENST00000520539	NM_015902.5	2376	aGa/aTa	0			1			A	R/I	uc003ykr.1	protein_coding	YES	CCDS34933.1			7127/8400									lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	c.(7126-7128)AGA>ATA			hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF77,Superfamily_domains:SSF63570	ubiquitin protein ligase E3 component n-recognin				ENSP00000429084		50/59									COSM3412614	50/59	.		ENST00000520539	Transcript			cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	ENSG00000104517	g.chr8:103282370C>A	16806			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=UBR5_HUMAN&rb=2376&re=2449&var=R2376I	NA	getma.org/?cm=var&var=hg19,8,103282370,C,A&fts=all	R2376I	--	--	1																																		UBR5_uc003yks.1_Missense_Mutation_p.R2376I|UBR5_uc003ykq.2_5'Flank	1	1		probably_damaging(0.953)	p.R2376I	NM_015902	NP_056986		tolerated(0.39)	1	UBR5_HUMAN	UBR5	HGNC	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		Q49A65_HUMAN,E5RFK7_HUMAN,B3KML2_HUMAN		50	7160	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		UPI0000129BCB	2376					SNV	UBR5,missense_variant,p.Arg2376Ile,ENST00000520539,NM_015902.5;UBR5,missense_variant,p.Arg2376Ile,ENST00000220959,NM_001282873.1;UBR5,missense_variant,p.Arg2370Ile,ENST00000521922,;UBR5,missense_variant,p.Arg105Ile,ENST00000518205,;UBR5,downstream_gene_variant,,ENST00000521566,;UBR5,upstream_gene_variant,,ENST00000521767,;UBR5,upstream_gene_variant,,ENST00000521312,;	uc003ykr.1	c.7127G>T	7734/10297	1	1			c.7127G>T						8	SNP	c.(7126-7128)AGA>ATA	51	51			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	Broad	ubiquitin protein ligase E3 component n-recognin			103282370		0.438	ENSG00000104517	16654	g.chr8:103282370C>A	cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	Ovarian(131;96 1741 5634 7352 27489)		1024	Ovarian(131;96 1741 5634 7352 27489)		1024	-45.317703	KEEP	3	3	0.5	111	121	3	3	0.5	7.646955	111	121	0.02381	1	0	0	0	0	1	0	0	0	--	--		0	A			UBR5_uc003yks.1_Missense_Mutation_p.R2376I|UBR5_uc003ykq.2_5'Flank	1	GBM-02-0003-TP	p.R2376I	C	AGAGGCTGGTCTAAAGGGCCT	NM_015902	NP_056986	103282370	O95071	UBR5_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		50	7160	-	A	A	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		Missense_Mutation	2376						
UBR5	0	broad.mit.edu	GRCh37	8	103289358	103289358	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-1831-01	TCGA-27-1831-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000520539.1:c.6351G>A	p.Arg2117=	p.R2117=	ENST00000520539	NM_015902.5	2117	cgG/cgA	0			1			T	R	uc003ykr.1	protein_coding	YES	CCDS34933.1			6351/8400									lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	c.(6349-6351)CGG>CGA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF77	ubiquitin protein ligase E3 component n-recognin				ENSP00000429084		45/59									COSM248189	45/59	.		ENST00000520539	Transcript			cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	ENSG00000104517	g.chr8:103289358C>T	16806			LOW								--	--	1																																		UBR5_uc003yks.1_Silent_p.R2117R	1	1			p.R2117R	NM_015902	NP_056986			1	UBR5_HUMAN	UBR5	HGNC	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		Q49A65_HUMAN,E5RFK7_HUMAN,B3KML2_HUMAN		45	6384	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		UPI0000129BCB	2117					SNV	UBR5,synonymous_variant,p.=,ENST00000520539,NM_015902.5;UBR5,synonymous_variant,p.=,ENST00000220959,NM_001282873.1;UBR5,synonymous_variant,p.=,ENST00000521922,;UBR5,upstream_gene_variant,,ENST00000518205,;UBR5,upstream_gene_variant,,ENST00000521566,;	uc003ykr.1	c.6351G>A	6958/10297	1	1			c.6351G>A						8	SNP	c.(6349-6351)CGG>CGA	6	6			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	Broad	ubiquitin protein ligase E3 component n-recognin			103289358		0.378	ENSG00000104517	16654	g.chr8:103289358C>T	cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	Ovarian(131;96 1741 5634 7352 27489)		1024	Ovarian(131;96 1741 5634 7352 27489)		1024	-46.852781	KEEP	2	2	-1	97	131	2	2	-1	6.557096	97	131	0.019417	1	0	0	0	0	0	0	1	0	--	--		0	T			UBR5_uc003yks.1_Silent_p.R2117R	190	GBM-27-1831-TP	p.R2117R	C	CTTTTTTTTGCCGGTTTTGCA	NM_015902	NP_056986	103289358	O95071	UBR5_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		45	6384	-	T	T	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		Silent	2117						
UBR5	0	broad.mit.edu	GRCh37	8	103297923	103297923	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-2495-01	TCGA-32-2495-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000520539.1:c.5302G>C	p.Ala1768Pro	p.A1768P	ENST00000520539	NM_015902.5	1768	Gct/Cct	0			1			G	A/P	uc003ykr.1	protein_coding	YES	CCDS34933.1			5302/8400									lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	c.(5302-5304)GCT>CCT			hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF77,Low_complexity_(Seg):seg	ubiquitin protein ligase E3 component n-recognin				ENSP00000429084		39/59									COSM3412615	39/59	.		ENST00000520539	Transcript			cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	ENSG00000104517	g.chr8:103297923C>G	16806			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=UBR5_HUMAN&rb=1649&re=1848&var=A1768P	NA	getma.org/?cm=var&var=hg19,8,103297923,C,G&fts=all	A1768P	--	--	1																																		UBR5_uc003yks.1_Missense_Mutation_p.A1768P	1	1		probably_damaging(0.991)	p.A1768P	NM_015902	NP_056986		tolerated(0.35)	1	UBR5_HUMAN	UBR5	HGNC	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		Q49A65_HUMAN,E5RFK7_HUMAN,B3KML2_HUMAN		39	5335	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		UPI0000129BCB	1768			Poly-Ala.		SNV	UBR5,missense_variant,p.Ala1768Pro,ENST00000520539,NM_015902.5;UBR5,missense_variant,p.Ala1768Pro,ENST00000220959,NM_001282873.1;UBR5,missense_variant,p.Ala1762Pro,ENST00000521922,;UBR5,downstream_gene_variant,,ENST00000519528,;	uc003ykr.1	c.5302G>C	5909/10297	3	3			c.5302G>C						8	SNP	c.(5302-5304)GCT>CCT	1	1			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	Broad	ubiquitin protein ligase E3 component n-recognin			103297923		0.468	ENSG00000104517	16654	g.chr8:103297923C>G	cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	Ovarian(131;96 1741 5634 7352 27489)		1024	Ovarian(131;96 1741 5634 7352 27489)		1024	121.385537	KEEP	21	21	-1	31	36	21	21	-1	122.252079	31	36	0.395604	1	0	0	0	0	1	0	0	0	--	--		0	G			UBR5_uc003yks.1_Missense_Mutation_p.A1768P	237	GBM-32-2495-TP	p.A1768P	C	GCTTCCAAAGCAGCTGCTGCA	NM_015902	NP_056986	103297923	O95071	UBR5_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		39	5335	-	G	G	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		Missense_Mutation	1768			Poly-Ala.			
UBR5	51366		GRCh37	8	103340098	103340099	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000520539.1:c.1352dup	p.Leu451PhefsTer7	p.L451Ffs*7	ENST00000520539	NM_015902.5	451	tta/ttTa	0																																																																																																																																																																																																																																												
UBTF	7343		GRCh37	17	42284949	42284949	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000302904.4:c.2042A>G	p.Asp681Gly	p.D681G	ENST00000302904		681	gAt/gGt	0																																																																																																																																																																																																																																												
UBXN6	0	broad.mit.edu	GRCh37	19	4454085	4454085	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-14-1450-01	TCGA-14-1450-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301281.6:c.89delA	p.Lys30ArgfsTer31	p.K30Rfs*31	ENST00000301281	NM_025241.2	30	aAg/ag	0			1			-	K/X	uc002man.1	protein_coding	YES	CCDS12129.1			89/1326										0	c.(88-90)AAGfs			hmmpanther:PTHR23153,hmmpanther:PTHR23153:SF35	UBX domain protein 6				ENSP00000301281		11-Feb										11-Feb	.		ENST00000301281	Transcript				microtubule organizing center|nucleus	protein binding	ENSG00000167671	g.chr19:4454085delT	14928			HIGH								--	--	1																																		UBXN6_uc010dty.1_5'UTR|UBXN6_uc002mam.1_5'UTR		1			p.K30fs	NM_025241	NP_079517				UBXN6_HUMAN	UBXN6	HGNC	Q9BZV1	UBXN6_HUMAN					2	185	-			UPI000004EF28	30					deletion	UBXN6,frameshift_variant,p.Lys30ArgfsTer31,ENST00000301281,NM_025241.2;UBXN6,frameshift_variant,p.Lys3ArgfsTer31,ENST00000591919,;UBXN6,frameshift_variant,p.Lys6ArgfsTer31,ENST00000592515,;UBXN6,5_prime_UTR_variant,,ENST00000394765,NM_001171091.1;CTB-50L17.16,downstream_gene_variant,,ENST00000591414,;CTB-50L17.16,downstream_gene_variant,,ENST00000590989,;CTB-50L17.9,intron_variant,,ENST00000592034,;UBXN6,upstream_gene_variant,,ENST00000588238,;UBXN6,upstream_gene_variant,,ENST00000592358,;	uc002man.1	c.89delA	214/1943	5	5			c.89delA						19	DEL	c.(88-90)AAGfs	29	29				0	Broad	UBX domain protein 6			4454085		0.667	ENSG00000167671	16665	g.chr19:4454085delT		microtubule organizing center|nucleus	protein binding																				0.02	1	1	0	1	0	0	0	0	0	--	--		0	-			UBXN6_uc010dty.1_5'UTR|UBXN6_uc002mam.1_5'UTR	145	GBM-14-1450-TP	p.K30fs	T	TTTGTGGGCCTTTTCCCTGGG	NM_025241	NP_079517	4454085	Q9BZV1	UBXN6_HUMAN	0			2	185	-	-	-			Frame_Shift_Del	30						
UBXN8	0	broad.mit.edu	GRCh37	8	30609013	30609013	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	C			TCGA-76-4927-01	TCGA-76-4927-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265616.5:n.206A>C		*69*	ENST00000265616				0			1			C		uc003xii.2	processed_transcript															0	c.(187-189)AAA>AAC				reproduction 8						9-Feb									COSM3412973	9-Feb	.		ENST00000265616	Transcript			single fertilization			ENSG00000104691	g.chr8:30609013A>C	30307			MODIFIER		1.52	low	getma.org/?cm=msa&ty=f&p=UBXN8_HUMAN&rb=1&re=185&var=K63N	NA	getma.org/?cm=var&var=hg19,8,30609013,A,C&fts=all	K63N	--	--	1																																		UBXN8_uc010lvi.2_Intron|UBXN8_uc011lbb.1_RNA|UBXN8_uc003xij.2_RNA	1				p.K63N	NM_005671	NP_005662			1		UBXN8	HGNC	O00124	UBXN8_HUMAN					2	206	+				63					SNV	UBXN8,non_coding_transcript_exon_variant,,ENST00000519246,;UBXN8,non_coding_transcript_exon_variant,,ENST00000517341,;UBXN8,non_coding_transcript_exon_variant,,ENST00000265616,;UBXN8,non_coding_transcript_exon_variant,,ENST00000341403,;UBXN8,non_coding_transcript_exon_variant,,ENST00000523607,;UBXN8,non_coding_transcript_exon_variant,,ENST00000522735,;UBXN8,non_coding_transcript_exon_variant,,ENST00000522968,;UBXN8,non_coding_transcript_exon_variant,,ENST00000518059,;UBXN8,intron_variant,,ENST00000380154,;UBXN8,intron_variant,,ENST00000518239,;UBXN8,upstream_gene_variant,,ENST00000521598,;RP11-465K4.4,downstream_gene_variant,,ENST00000603871,;	uc003xii.2	c.189A>C	206/1439	3	3			c.189A>C						8	SNP	c.(187-189)AAA>AAC	14	14				0	Broad	reproduction 8			30609013		0.338	ENSG00000104691	16667	g.chr8:30609013A>C	single fertilization			Colon(169;855 1943 17895 39459 47884)			Colon(169;855 1943 17895 39459 47884)			52.649011	KEEP	12	9	-1	24	35	12	9	-1	55.336203	24	35	0.278689	1	0	0	0	0	1	0	0	0	--	--		0	C			UBXN8_uc010lvi.2_Intron|UBXN8_uc011lbb.1_RNA|UBXN8_uc003xij.2_RNA	267	GBM-76-4927-TP	p.K63N	A	ACTCATTTAAATCTCCCCAAG	NM_005671	NP_005662	30609013	O00124	UBXN8_HUMAN	0			2	206	+	C	C			Missense_Mutation	63						
UCHL3	0	broad.mit.edu	GRCh37	13	76134909	76134909	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-32-1977-01	TCGA-32-1977-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377595.3:c.75A>T	p.Leu25=	p.L25=	ENST00000377595	NM_006002.4	25	ctA/ctT	0			1			T	L	uc001vjq.2	protein_coding	YES	CCDS9453.1			75/693										0	c.(73-75)CTA>CTT			Gene3D:3.40.532.10,Pfam_domain:PF01088,Prints_domain:PR00707,hmmpanther:PTHR10589,hmmpanther:PTHR10589:SF24,Superfamily_domains:SSF54001	ubiquitin carboxyl-terminal esterase L3				ENSP00000366819		9-Mar									COSM3399445	9-Mar	.		ENST00000377595	Transcript			ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity	ENSG00000118939	g.chr13:76134909A>T	12515			LOW								--	--	1																																		UCHL3_uc001vjr.2_5'UTR	1	1			p.L25L	NM_006002	NP_005993			1	UCHL3_HUMAN	UCHL3	HGNC	P15374	UCHL3_HUMAN		GBM - Glioblastoma multiforme(99;0.0125)			3	105	+			UPI000004D00E	25					SNV	UCHL3,synonymous_variant,p.=,ENST00000377595,NM_006002.4,NM_001270952.1;RP11-29G8.3,non_coding_transcript_exon_variant,,ENST00000563635,;UCHL3,non_coding_transcript_exon_variant,,ENST00000471792,;	uc001vjq.2	c.75A>T	105/844	1	1			c.75A>T						13	SNP	c.(73-75)CTA>CTT	1	1				0	Broad	ubiquitin carboxyl-terminal esterase L3			76134909		0.333	ENSG00000118939	16669	g.chr13:76134909A>T	ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity							44.647084	KEEP	12	9	-1	35	40	12	9	-1	51.431192	35	40	0.217391	1	0	0	0	0	0	0	1	0	--	--		0	T			UCHL3_uc001vjr.2_5'UTR	229	GBM-32-1977-TP	p.L25L	A	AATTAGGTCTACATCCTAACT	NM_006002	NP_005993	76134909	P15374	UCHL3_HUMAN	0		GBM - Glioblastoma multiforme(99;0.0125)	3	105	+	T	T			Silent	25						
UCK1	0	broad.mit.edu	GRCh37	9	134400596	134400596	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-3476-01	TCGA-14-3476-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372215.4:c.665T>C	p.Leu222Pro	p.L222P	ENST00000372215	NM_031432.2	222	cTg/cCg	0			1			G	L/P	uc004cay.2	protein_coding		CCDS6944.1			665/834										0	c.(664-666)CTG>CCG			Gene3D:3.40.50.300,hmmpanther:PTHR10285,hmmpanther:PTHR10285:SF66,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00235	uridine-cytidine kinase 1 isoform a				ENSP00000361289		7-Jul									COSM3413399,COSM3413398	7-Jul	.		ENST00000372215	Transcript			pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity	ENSG00000130717	g.chr9:134400596A>G	14859			MODERATE								--	--	1																																		UCK1_uc010mzk.2_Missense_Mutation_p.L213P|UCK1_uc004cba.2_Silent_p.P190P|UCK1_uc004caz.2_RNA	1,1			probably_damaging(0.994)	p.L222P	NM_031432	NP_113620		deleterious(0)	1,1	UCK1_HUMAN	UCK1	HGNC	Q9HA47	UCK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)			7	766	-			UPI000004B291	222					SNV	UCK1,missense_variant,p.Leu222Pro,ENST00000372215,NM_031432.2,NM_001261450.1,NM_001261451.1;UCK1,missense_variant,p.Leu227Pro,ENST00000372211,;UCK1,missense_variant,p.Leu213Pro,ENST00000372210,;UCK1,synonymous_variant,p.=,ENST00000372208,NM_001135954.1;POMT1,downstream_gene_variant,,ENST00000423007,NM_001136113.1;POMT1,downstream_gene_variant,,ENST00000372228,NM_007171.3;POMT1,downstream_gene_variant,,ENST00000402686,NM_001077365.1;POMT1,downstream_gene_variant,,ENST00000341012,NM_001077366.1;POMT1,downstream_gene_variant,,ENST00000404875,NM_001136114.1;POMT1,downstream_gene_variant,,ENST00000354713,;POMT1,downstream_gene_variant,,ENST00000419118,;POMT1,downstream_gene_variant,,ENST00000372220,;POMT1,downstream_gene_variant,,ENST00000541219,;RP11-334J6.6,upstream_gene_variant,,ENST00000415423,;UCK1,non_coding_transcript_exon_variant,,ENST00000494584,;UCK1,non_coding_transcript_exon_variant,,ENST00000484876,;POMT1,downstream_gene_variant,,ENST00000485278,;POMT1,downstream_gene_variant,,ENST00000494883,;UCK1,downstream_gene_variant,,ENST00000459858,;POMT1,downstream_gene_variant,,ENST00000467848,;UCK1,downstream_gene_variant,,ENST00000482398,;UCK1,3_prime_UTR_variant,,ENST00000491309,;	uc004cay.2	c.665T>C	759/2167	4	4			c.665T>C						9	SNP	c.(664-666)CTG>CCG	19	19				0	Broad	uridine-cytidine kinase 1 isoform a			134400596		0.597	ENSG00000130717	16671	g.chr9:134400596A>G	pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity	Melanoma(42;523 1129 28385 43975 48113)			Melanoma(42;523 1129 28385 43975 48113)			-14.956	KEEP	1	3	-1	44	55	1	3	-1	6.426053	44	55	0.033333	1	0	0	0	0	1	0	0	0	--	--		0	G			UCK1_uc010mzk.2_Missense_Mutation_p.L213P|UCK1_uc004cba.2_Silent_p.P190P|UCK1_uc004caz.2_RNA	151	GBM-14-3476-TP	p.L222P	A	CTGCACGATCAGGTTGATGGC	NM_031432	NP_113620	134400596	Q9HA47	UCK1_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)	7	766	-	G	G			Missense_Mutation	222						
UEVLD	0	broad.mit.edu	GRCh37	11	18554017	18554017	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-12-0821-01	TCGA-12-0821-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396197.3:c.1266T>C	p.Asn422=	p.N422=	ENST00000396197	NM_001040697.2	422	aaT/aaC	0			1			G	N	uc001mot.2	protein_coding	YES	CCDS41624.1			1266/1416										0	c.(1264-1266)AAT>AAC			hmmpanther:PTHR23306,hmmpanther:PTHR23306:SF18,Gene3D:3.90.110.10,Pfam_domain:PF02866,Superfamily_domains:SSF56327	ubiquitin-conjugating enzyme E2-like isoform a				ENSP00000379500		12-Dec									COSM3397599	12-Dec	.		ENST00000396197	Transcript			cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	ENSG00000151116	g.chr11:18554017A>G	30866			LOW								--	--	1																																		UEVLD_uc001mou.2_3'UTR|UEVLD_uc010rde.1_Silent_p.N292N|UEVLD_uc010rdf.1_Silent_p.N400N|UEVLD_uc010rdg.1_Silent_p.N292N|UEVLD_uc001mov.2_3'UTR	1	1			p.N422N	NM_001040697	NP_001035787			1	UEVLD_HUMAN	UEVLD	HGNC	Q8IX04	UEVLD_HUMAN			B4DWH4_HUMAN,B4DIA9_HUMAN		12	1346	-			UPI00001AF2D2	422					SNV	UEVLD,synonymous_variant,p.=,ENST00000396197,NM_001040697.2,NM_001261384.1;UEVLD,synonymous_variant,p.=,ENST00000379387,NM_001261382.1;UEVLD,3_prime_UTR_variant,,ENST00000543987,NM_018314.4;UEVLD,3_prime_UTR_variant,,ENST00000535484,NM_001261385.1;UEVLD,3_prime_UTR_variant,,ENST00000320750,NM_001261383.1;UEVLD,3_prime_UTR_variant,,ENST00000541984,NM_001261386.1;UEVLD,non_coding_transcript_exon_variant,,ENST00000540666,;UEVLD,3_prime_UTR_variant,,ENST00000396196,;UEVLD,non_coding_transcript_exon_variant,,ENST00000539569,;	uc001mot.2	c.1266T>C	1295/4156	3	3			c.1266T>C						11	SNP	c.(1264-1266)AAT>AAC	14	14				0	Broad	ubiquitin-conjugating enzyme E2-like isoform a			18554017		0.313	ENSG00000151116	16681	g.chr11:18554017A>G	cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor							134.293517	KEEP	25	20	-1	41	17	25	20	-1	134.582175	41	17	0.43956	1	0	0	0	0	0	0	1	0	--	--		0	G			UEVLD_uc001mou.2_3'UTR|UEVLD_uc010rde.1_Silent_p.N292N|UEVLD_uc010rdf.1_Silent_p.N400N|UEVLD_uc010rdg.1_Silent_p.N292N|UEVLD_uc001mov.2_3'UTR	123	GBM-12-0821-TP	p.N422N	A	ACACTTCACTATTTATATCAT	NM_001040697	NP_001035787	18554017	Q8IX04	UEVLD_HUMAN	0			12	1346	-	G	G			Silent	422						
UEVLD	0	broad.mit.edu	GRCh37	11	18587922	18587922	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396197.3:c.465G>C	p.Leu155Phe	p.L155F	ENST00000396197	NM_001040697.2	155	ttG/ttC	0			1			G	L/F	uc001mot.2	protein_coding	YES	CCDS41624.1			465/1416										0	c.(463-465)TTG>TTC			hmmpanther:PTHR23306,hmmpanther:PTHR23306:SF18	ubiquitin-conjugating enzyme E2-like isoform a				ENSP00000379500		12-May									COSM3397601,COSM3397600	12-May	.		ENST00000396197	Transcript			cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	ENSG00000151116	g.chr11:18587922C>G	30866			MODERATE		1.955	medium	getma.org/?cm=msa&ty=f&p=UEVLD_HUMAN&rb=142&re=182&var=L155F	NA	getma.org/?cm=var&var=hg19,11,18587922,C,G&fts=all	L155F	--	--	1																																		UEVLD_uc001mou.2_Missense_Mutation_p.L155F|UEVLD_uc010rde.1_Missense_Mutation_p.L25F|UEVLD_uc010rdf.1_Missense_Mutation_p.L133F|UEVLD_uc010rdg.1_Missense_Mutation_p.L25F|UEVLD_uc001mov.2_Missense_Mutation_p.L133F|UEVLD_uc010rdh.1_Missense_Mutation_p.L155F	1,1	1		possibly_damaging(0.585)	p.L155F	NM_001040697	NP_001035787		tolerated(0.08)	1,1	UEVLD_HUMAN	UEVLD	HGNC	Q8IX04	UEVLD_HUMAN			B4DWH4_HUMAN,B4DIA9_HUMAN		5	545	-			UPI00001AF2D2	155					SNV	UEVLD,missense_variant,p.Leu155Phe,ENST00000396197,NM_001040697.2,NM_001261384.1;UEVLD,missense_variant,p.Leu155Phe,ENST00000543987,NM_018314.4;UEVLD,missense_variant,p.Leu117Phe,ENST00000535484,NM_001261385.1;UEVLD,missense_variant,p.Leu133Phe,ENST00000379387,NM_001261382.1;UEVLD,missense_variant,p.Leu133Phe,ENST00000320750,NM_001261383.1;UEVLD,missense_variant,p.Leu155Phe,ENST00000300038,;UEVLD,intron_variant,,ENST00000541984,NM_001261386.1;UEVLD,non_coding_transcript_exon_variant,,ENST00000540666,;UEVLD,non_coding_transcript_exon_variant,,ENST00000540917,;UEVLD,downstream_gene_variant,,ENST00000490736,;UEVLD,3_prime_UTR_variant,,ENST00000396196,;UEVLD,downstream_gene_variant,,ENST00000535340,;	uc001mot.2	c.465G>C	494/4156	4	4			c.465G>C						11	SNP	c.(463-465)TTG>TTC	32	32				0	Broad	ubiquitin-conjugating enzyme E2-like isoform a			18587922		0.368	ENSG00000151116	16681	g.chr11:18587922C>G	cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor							46.637035	KEEP	10	15	-1	42	50	10	15	-1	53.246951	42	50	0.223404	1	0	0	0	0	1	0	0	0	--	--		0	G			UEVLD_uc001mou.2_Missense_Mutation_p.L155F|UEVLD_uc010rde.1_Missense_Mutation_p.L25F|UEVLD_uc010rdf.1_Missense_Mutation_p.L133F|UEVLD_uc010rdg.1_Missense_Mutation_p.L25F|UEVLD_uc001mov.2_Missense_Mutation_p.L133F|UEVLD_uc010rdh.1_Missense_Mutation_p.L155F	229	GBM-32-1977-TP	p.L155F	C	TATAGGCTAGCAAGTCTACCT	NM_001040697	NP_001035787	18587922	Q8IX04	UEVLD_HUMAN	0			5	545	-	G	G			Missense_Mutation	155						
UFSP2	55325	broad.mit.edu	GRCh37	4	186334930	186334930	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0174-01	TCGA-06-0174-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264689.6:c.781A>G	p.Ile261Val	p.I261V	ENST00000264689	NM_018359.3	261	Att/Gtt	0			1			C	I/V	uc003ixo.2	protein_coding	YES	CCDS3842.1			781/1410										0	c.(781-783)ATT>GTT			hmmpanther:PTHR13226,hmmpanther:PTHR13226:SF9	UFM1-specific peptidase 2				ENSP00000264689		12-Jul									COSM3409198	12-Jul	.		ENST00000264689	Transcript				endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity	ENSG00000109775	g.chr4:186334930T>C	25640			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=UFSP2_HUMAN&rb=201&re=275&var=I261V	getma.org/pdb.php?prot=UFSP2_HUMAN&from=201&to=275&var=I261V	getma.org/?cm=var&var=hg19,4,186334930,T,C&fts=all	I261V	--	--	1																																		UFSP2_uc003ixn.2_Missense_Mutation_p.I151V|UFSP2_uc003ixq.2_Missense_Mutation_p.I151V|UFSP2_uc003ixp.2_RNA	1	1		benign(0.005)	p.I261V	NM_018359	NP_060829		deleterious(0.03)	1	UFSP2_HUMAN	UFSP2	HGNC	Q9NUQ7	UFSP2_HUMAN		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)	D6RA67_HUMAN		7	898	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	UPI000020B7C0	261					SNV	UFSP2,missense_variant,p.Ile261Val,ENST00000264689,NM_018359.3;UFSP2,missense_variant,p.Ile175Val,ENST00000511485,;UFSP2,upstream_gene_variant,,ENST00000509180,;UFSP2,downstream_gene_variant,,ENST00000505357,;Y_RNA,downstream_gene_variant,,ENST00000384502,;UFSP2,downstream_gene_variant,,ENST00000502282,;UFSP2,missense_variant,p.Ile261Val,ENST00000510755,;UFSP2,3_prime_UTR_variant,,ENST00000514247,;UFSP2,downstream_gene_variant,,ENST00000502428,;	uc003ixo.2	c.781A>G	898/1630	3	3			c.781A>G						4	SNP	c.(781-783)ATT>GTT	51	51				0	Broad	UFM1-specific peptidase 2			186334930		0.363	ENSG00000109775	16686	g.chr4:186334930T>C		endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity							374.414614	KEEP	67	72	-1	65	75	67	72	-1	374.447851	65	75	0.487288	1	0	0	0	0	1	0	0	0	--	--		0	C			UFSP2_uc003ixn.2_Missense_Mutation_p.I151V|UFSP2_uc003ixq.2_Missense_Mutation_p.I151V|UFSP2_uc003ixp.2_RNA	37	GBM-06-0174-TP	p.I261V	T	GGATTTCTAATGTAACCATCT	NM_018359	NP_060829	186334930	Q9NUQ7	UFSP2_HUMAN	0		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)	7	898	-	C	C		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	Missense_Mutation	261						
UGDH	0	broad.mit.edu	GRCh37	4	39515752	39515753	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-26-1439-01	TCGA-26-1439-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316423.6:c.214dupT	p.Ser72PhefsTer5	p.S72Ffs*5	ENST00000316423	NM_001184701.1	72	tct/tTct	0			1			A	S/FX	uc003guk.1	protein_coding	YES	CCDS3455.1			214-215/1485									large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4	c.(214-216)TCTfs			Superfamily_domains:SSF51735,PIRSF_domain:PIRSF500133,PIRSF_domain:PIRSF000124,TIGRFAM_domain:TIGR03026,Gene3D:3.40.50.720,Pfam_domain:PF03721,hmmpanther:PTHR11374,hmmpanther:PTHR11374:SF3	UDP-glucose dehydrogenase	NADH(DB00157)			ENSP00000319501		12-Mar									rs773744261,COSM1429638	12-Mar	.		ENST00000316423	Transcript			glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	ENSG00000109814	g.chr4:39515752_39515753insA	12525			HIGH								--	--	1																																		UGDH_uc011byp.1_5'UTR|UGDH_uc003gul.1_Frame_Shift_Ins_p.S72fs	0,1	1			p.S72fs	NM_003359	NP_003350			0,1	UGDH_HUMAN	UGDH	HGNC	O60701	UGDH_HUMAN			Q9NY20_HUMAN,Q9NQ83_HUMAN,Q9NQ82_HUMAN,Q9NQ81_HUMAN,E7ETF4_HUMAN,E7ER95_HUMAN,E7ER83_HUMAN,D6RHF4_HUMAN		3	530_531	-			UPI0000001075	72					insertion	UGDH,frameshift_variant,p.Ser72PhefsTer5,ENST00000316423,NM_001184701.1,NM_003359.3;UGDH,frameshift_variant,p.Ser72PhefsTer5,ENST00000506179,;UGDH,frameshift_variant,p.Ser72PhefsTer5,ENST00000501493,NM_001184700.1;UGDH,frameshift_variant,p.Ser85PhefsTer5,ENST00000515021,;UGDH,frameshift_variant,p.Ser72PhefsTer5,ENST00000509391,;UGDH,frameshift_variant,p.Ser72PhefsTer5,ENST00000514106,;UGDH,frameshift_variant,p.Ser72PhefsTer5,ENST00000505698,;UGDH,5_prime_UTR_variant,,ENST00000507089,;UGDH,non_coding_transcript_exon_variant,,ENST00000515398,;UGDH,3_prime_UTR_variant,,ENST00000503779,;UGDH,3_prime_UTR_variant,,ENST00000510881,;	uc003guk.1	c.214_215insT	557-558/3216	5	5			c.214_215insT						4	INS	c.(214-216)TCTfs	1	1			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4	Broad	UDP-glucose dehydrogenase		NADH(DB00157)	39515753		0.297	ENSG00000109814	16688	g.chr4:39515752_39515753insA	glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity																				0.03	1	0	0	1	1	0	0	0	0	--	--		0	A			UGDH_uc011byp.1_5'UTR|UGDH_uc003gul.1_Frame_Shift_Ins_p.S72fs	179	GBM-26-1439-TP	p.S72fs	-	AATATTGGTAGAAAAAAAAAGA	NM_003359	NP_003350	39515752	O60701	UGDH_HUMAN	0			3	530_531	-	A	A			Frame_Shift_Ins	72						
UGGT1	0	broad.mit.edu	GRCh37	2	128944331	128944331	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-27-2523-01	TCGA-27-2523-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259253.6:c.4434G>A	p.Trp1478Ter	p.W1478*	ENST00000259253	NM_020120.3	1478	tgG/tgA	0			1			A	W/*	uc002tps.2	protein_coding	YES	CCDS2154.1			4434/4668									ovary(1)	1	c.(4432-4434)TGG>TGA			Gene3D:3.90.550.10,hmmpanther:PTHR11226,hmmpanther:PTHR11226:SF3,Superfamily_domains:SSF53448	UDP-glucose ceramide glucosyltransferase-like 1				ENSP00000259253		39/41									COSM3406851	39/41	.		ENST00000259253	Transcript			'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	ENSG00000136731	g.chr2:128944331G>A	15663			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,128944331,G,A&fts=all	W1478*	--	--	1																																		UGGT1_uc002tpr.2_Nonsense_Mutation_p.W1454*	1	1			p.W1478*	NM_020120	NP_064505			1	UGGG1_HUMAN	UGGT1	HGNC	Q9NYU2	UGGG1_HUMAN					39	4612	+			UPI00000707D8	1478			Glucosyltransferase (By similarity).		SNV	UGGT1,stop_gained,p.Trp1454Ter,ENST00000375990,;UGGT1,stop_gained,p.Trp1478Ter,ENST00000259253,NM_020120.3;UGGT1,stop_gained,p.Trp54Ter,ENST00000418197,;UGGT1,upstream_gene_variant,,ENST00000465836,;UGGT1,3_prime_UTR_variant,,ENST00000376723,;	uc002tps.2	c.4434G>A	4481/10650	5	2			c.4434G>A						2	SNP	c.(4432-4434)TGG>TGA	44	44			ovary(1)	1	Broad	UDP-glucose ceramide glucosyltransferase-like 1			128944331		0.413	ENSG00000136731	16689	g.chr2:128944331G>A	'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding							441.567518	KEEP	96	73	-1	91	85	96	73	-1	441.640628	91	85	0.483221	1	0	0	0	0	0	1	0	0	--	--		0	A			UGGT1_uc002tpr.2_Nonsense_Mutation_p.W1454*	201	GBM-27-2523-TP	p.W1478*	G	GTGAAACGTGGTGTGATGACG	NM_020120	NP_064505	128944331	Q9NYU2	UGGG1_HUMAN	0			39	4612	+	A	A			Nonsense_Mutation	1478			Glucosyltransferase (By similarity).			
UGGT1	0	broad.mit.edu	GRCh37	2	128935427	128935427	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2528-01	TCGA-27-2528-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000259253.6:c.3646G>A	p.Val1216Met	p.V1216M	ENST00000259253	NM_020120.3	1216	Gtg/Atg	0			1			A	V/M	uc002tps.2	protein_coding	YES	CCDS2154.1			3646/4668									ovary(1)	1	c.(3646-3648)GTG>ATG			hmmpanther:PTHR11226,hmmpanther:PTHR11226:SF3	UDP-glucose ceramide glucosyltransferase-like 1				ENSP00000259253		33/41	8.24E-06					1.51E-05			rs755677543,COSM3406850	33/41	.		ENST00000259253	Transcript			'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	ENSG00000136731	g.chr2:128935427G>A	15663			MODERATE		-1.155	neutral	getma.org/?cm=msa&ty=f&p=UGGG1_HUMAN&rb=1151&re=1350&var=V1216M	NA	getma.org/?cm=var&var=hg19,2,128935427,G,A&fts=all	V1216M	--	--	1																																		UGGT1_uc002tpr.2_Missense_Mutation_p.V1192M	0,1	1		benign(0.002)	p.V1216M	NM_020120	NP_064505		tolerated(0.39)	0,1	UGGG1_HUMAN	UGGT1	HGNC	Q9NYU2	UGGG1_HUMAN					33	3824	+			UPI00000707D8	1216					SNV	UGGT1,missense_variant,p.Val1192Met,ENST00000375990,;UGGT1,missense_variant,p.Val1216Met,ENST00000259253,NM_020120.3;UGGT1,upstream_gene_variant,,ENST00000418197,;UGGT1,3_prime_UTR_variant,,ENST00000376723,;	uc002tps.2	c.3646G>A	3693/10650	2	2			c.3646G>A						2	SNP	c.(3646-3648)GTG>ATG	34	34			ovary(1)	1	Broad	UDP-glucose ceramide glucosyltransferase-like 1			128935427		0.398	ENSG00000136731	16689	g.chr2:128935427G>A	'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding							207.117046	KEEP	40	51	-1	85	106	40	51	-1	215.057486	85	106	0.308642	1	0	0	0	0	1	0	0	0	--	--		0	A			UGGT1_uc002tpr.2_Missense_Mutation_p.V1192M	205	GBM-27-2528-TP	p.V1216M	G	GGCAGATATGGTGAACGAAGA	NM_020120	NP_064505	128935427	Q9NYU2	UGGG1_HUMAN	0			33	3824	+	A	A			Missense_Mutation	1216						
UGGT2	0	broad.mit.edu	GRCh37	13	96530054	96530054	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-26-5136-01	TCGA-26-5136-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376747.3:c.3285A>G	p.Gln1095=	p.Q1095=	ENST00000376747	NM_020121.3	1095	caA/caG	0			1			C	Q	uc001vmt.2	protein_coding	YES	CCDS9480.1			3285/4551									ovary(2)|central_nervous_system(1)	3	c.(3283-3285)CAA>CAG			Pfam_domain:PF06427,hmmpanther:PTHR11226,hmmpanther:PTHR11226:SF1	UDP-glucose ceramide glucosyltransferase-like 2				ENSP00000365938		28/39	4.12E-05			0.000347		3.00E-05			rs776189841,COSM2157127	28/39	.		ENST00000376747	Transcript			post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	ENSG00000102595	g.chr13:96530054T>C	15664			LOW								--	--	1																																		UGGT2_uc001vmu.1_Silent_p.Q182Q	0,1	1			p.Q1095Q	NM_020121	NP_064506			0,1	UGGG2_HUMAN	UGGT2	HGNC	Q9NYU1	UGGG2_HUMAN					28	3455	-			UPI00001FC9AA	1095					SNV	UGGT2,synonymous_variant,p.=,ENST00000376747,NM_020121.3;UGGT2,non_coding_transcript_exon_variant,,ENST00000491509,;UGGT2,upstream_gene_variant,,ENST00000476866,;UGGT2,non_coding_transcript_exon_variant,,ENST00000463054,;	uc001vmt.2	c.3285A>G	3356/4832	3	3			c.3285A>G						13	SNP	c.(3283-3285)CAA>CAG	4	4			ovary(2)|central_nervous_system(1)	3	Broad	UDP-glucose ceramide glucosyltransferase-like 2			96530054		0.403	ENSG00000102595	16690	g.chr13:96530054T>C	post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity							483.662945	KEEP	62	70	-1	17	34	62	70	-1	492.455551	17	34	0.739645	1	0	0	0	0	0	0	1	0	--	--		0	C			UGGT2_uc001vmu.1_Silent_p.Q182Q	185	GBM-26-5136-TP	p.Q1095Q	T	TATCAAAGCATTGTCCTTCCA	NM_020121	NP_064506	96530054	Q9NYU1	UGGG2_HUMAN	0			28	3455	-	C	C			Silent	1095						
UGGT2	0	broad.mit.edu	GRCh37	13	96648323	96648323	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-41-2571-01	TCGA-41-2571-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376747.3:c.824A>T	p.Lys275Ile	p.K275I	ENST00000376747	NM_020121.3	275	aAa/aTa	0			1			A	K/I	uc001vmt.2	protein_coding	YES	CCDS9480.1			824/4551									ovary(2)|central_nervous_system(1)	3	c.(823-825)AAA>ATA			hmmpanther:PTHR11226,hmmpanther:PTHR11226:SF1	UDP-glucose ceramide glucosyltransferase-like 2				ENSP00000365938		Jul-39									COSM3399471,COSM3399472	Jul-39	.		ENST00000376747	Transcript			post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	ENSG00000102595	g.chr13:96648323T>A	15664			MODERATE		2.005	medium	getma.org/?cm=msa&ty=f&p=UGGG2_HUMAN&rb=201&re=400&var=K275I	NA	getma.org/?cm=var&var=hg19,13,96648323,T,A&fts=all	K275I	--	--	1																																		UGGT2_uc010afo.2_RNA|UGGT2_uc001vmv.2_Missense_Mutation_p.K275I|UGGT2_uc010afp.2_Missense_Mutation_p.K275I	1,1	1		possibly_damaging(0.646)	p.K275I	NM_020121	NP_064506		deleterious(0.04)	1,1	UGGG2_HUMAN	UGGT2	HGNC	Q9NYU1	UGGG2_HUMAN					7	994	-			UPI00001FC9AA	275					SNV	UGGT2,missense_variant,p.Lys275Ile,ENST00000376747,NM_020121.3;UGGT2,missense_variant,p.Lys275Ile,ENST00000376712,;UGGT2,missense_variant,p.Lys275Ile,ENST00000397618,;UGGT2,missense_variant,p.Lys275Ile,ENST00000376714,;UGGT2,non_coding_transcript_exon_variant,,ENST00000467305,;UGGT2,non_coding_transcript_exon_variant,,ENST00000461329,;UGGT2,non_coding_transcript_exon_variant,,ENST00000465196,;	uc001vmt.2	c.824A>T	895/4832	1	1			c.824A>T						13	SNP	c.(823-825)AAA>ATA	49	49			ovary(2)|central_nervous_system(1)	3	Broad	UDP-glucose ceramide glucosyltransferase-like 2			96648323		0.313	ENSG00000102595	16690	g.chr13:96648323T>A	post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity							-40.038426	KEEP	3	5	-1	118	115	3	5	-1	10.484358	118	115	0.028986	1	0	0	0	0	1	0	0	0	--	--		0	A			UGGT2_uc010afo.2_RNA|UGGT2_uc001vmv.2_Missense_Mutation_p.K275I|UGGT2_uc010afp.2_Missense_Mutation_p.K275I	250	GBM-41-2571-TP	p.K275I	T	TTACTTTAGTTTCCCAAAGAG	NM_020121	NP_064506	96648323	Q9NYU1	UGGG2_HUMAN	0			7	994	-	A	A			Missense_Mutation	275						
UGGT2	55757		GRCh37	13	96578002	96578002	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000376747.3:c.2227C>T	p.Leu743Phe	p.L743F	ENST00000376747	NM_020121.3	743	Ctc/Ttc	0																																																																																																																																																																																																																																												
UGT1A1	54658	broad.mit.edu	GRCh37	2	234669059	234669059	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305208.5:c.126C>T	p.Ser42=	p.S42=	ENST00000305208	NM_000463.2	42	agC/agT	0			1			T		uc002vvb.2	protein_coding		CCDS33402.1			-/1593									central_nervous_system(1)|skin(1)	2	c.(124-126)AGC>AGT				UDP glycosyltransferase 1 family, polypeptide A1	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)			ENSP00000362549											COSM3407692,COSM3407693		.		ENST00000373450	Transcript	1		bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	ENSG00000241635	g.chr2:234669059C>T	12540			MODIFIER	4-Jan							--	--	1																																		UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Silent_p.S42S	1,1				p.S42S	NM_000463	NP_000454			1,1	UD18_HUMAN	UGT1A8	HGNC	P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Q5DSZ6_HUMAN		1	141	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	UPI0000072F75	42					SNV	UGT1A8,synonymous_variant,p.=,ENST00000360418,;UGT1A1,synonymous_variant,p.=,ENST00000305208,NM_000463.2;UGT1A8,synonymous_variant,p.=,ENST00000608383,;UGT1A6,intron_variant,,ENST00000305139,NM_001072.3;UGT1A9,intron_variant,,ENST00000354728,;UGT1A10,intron_variant,,ENST00000344644,NM_019075.2;UGT1A8,intron_variant,,ENST00000373450,NM_019076.4;UGT1A4,intron_variant,,ENST00000373409,NM_007120.2;UGT1A8,intron_variant,,ENST00000609637,NM_021027.2;UGT1A3,intron_variant,,ENST00000482026,;UGT1A8,intron_variant,,ENST00000609767,NM_019093.2;UGT1A8,intron_variant,,ENST00000608381,NM_019078.1;UGT1A5,intron_variant,,ENST00000373414,;UGT1A7,intron_variant,,ENST00000373426,NM_019077.2;UGT1A10,intron_variant,,ENST00000373445,;UGT1A6,intron_variant,,ENST00000373424,NM_205862.1;UGT1A6,intron_variant,,ENST00000406651,;UGT1A6,downstream_gene_variant,,ENST00000480628,;UGT1A4,intron_variant,,ENST00000450233,;UGT1A6,intron_variant,,ENST00000446481,;UGT1A6,intron_variant,,ENST00000484784,;	uc002vvb.2	c.126C>T	-/2407	2	2			c.126C>T						2	SNP	c.(124-126)AGC>AGT	44	44			central_nervous_system(1)|skin(1)	2	Broad	UDP glycosyltransferase 1 family, polypeptide A1		Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	234669059		0.577	ENSG00000241635	16692	g.chr2:234669059C>T	bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding							6.174686	KEEP	6	1	-1	20	25	6	1	-1	10.460408	20	25	0.142857	1	0	0	0	0	0	0	1	0	--	--		0	T			UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Silent_p.S42S	46	GBM-06-0209-TP	p.S42S	C	ACTGGCTGAGCATGCTTGGGG	NM_000463	NP_000454	234669059	P22309	UD11_HUMAN	0		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	1	141	+	T	T		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	Silent	42						
UGT1A1	54658	broad.mit.edu	GRCh37	2	234669074	234669074	+	synonymous_variant	Silent	SNP	C	C	T	rs34526305	byFrequency;by1000genomes	TCGA-06-0209-01	TCGA-06-0209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305208.5:c.141C>T	p.Ile47=	p.I47=	ENST00000305208	NM_000463.2	47	atC/atT	0	T:0.0005	T:0.0008	1	T:0.0014		T		uc002vvb.2	protein_coding		CCDS33402.1			-/1593						uncertain_significance			central_nervous_system(1)|skin(1)	2	c.(139-141)ATC>ATT				UDP glycosyltransferase 1 family, polypeptide A1	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	T:0	T:0.0023	ENSP00000362549	T:0.003		0.00236	0.000482	0.00139		0.000151	0.00347	0.00331	0.00182	rs34526305,COSM210439,COSM3407694		common_variant		ENST00000373450	Transcript	1	T:0.0010	bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	ENSG00000241635	g.chr2:234669074C>T	12540			MODIFIER	4-Jan							--	--	1																																		UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Silent_p.I47I	1,1,1				p.I47I	NM_000463	NP_000454	T:0		0,1,1	UD18_HUMAN	UGT1A8	HGNC	P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Q5DSZ6_HUMAN		1	156	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	UPI0000072F75	47					SNV	UGT1A8,synonymous_variant,p.=,ENST00000360418,;UGT1A1,synonymous_variant,p.=,ENST00000305208,NM_000463.2;UGT1A8,synonymous_variant,p.=,ENST00000608383,;UGT1A6,intron_variant,,ENST00000305139,NM_001072.3;UGT1A9,intron_variant,,ENST00000354728,;UGT1A10,intron_variant,,ENST00000344644,NM_019075.2;UGT1A8,intron_variant,,ENST00000373450,NM_019076.4;UGT1A4,intron_variant,,ENST00000373409,NM_007120.2;UGT1A8,intron_variant,,ENST00000609637,NM_021027.2;UGT1A3,intron_variant,,ENST00000482026,;UGT1A8,intron_variant,,ENST00000609767,NM_019093.2;UGT1A8,intron_variant,,ENST00000608381,NM_019078.1;UGT1A5,intron_variant,,ENST00000373414,;UGT1A7,intron_variant,,ENST00000373426,NM_019077.2;UGT1A10,intron_variant,,ENST00000373445,;UGT1A6,intron_variant,,ENST00000373424,NM_205862.1;UGT1A6,intron_variant,,ENST00000406651,;UGT1A6,downstream_gene_variant,,ENST00000480628,;UGT1A4,intron_variant,,ENST00000450233,;UGT1A6,intron_variant,,ENST00000446481,;UGT1A6,intron_variant,,ENST00000484784,;	uc002vvb.2	c.141C>T	-/2407	1	1			c.141C>T						2	SNP	c.(139-141)ATC>ATT	5	5			central_nervous_system(1)|skin(1)	2	Broad	UDP glycosyltransferase 1 family, polypeptide A1		Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	234669074		0.567	ENSG00000241635	16692	g.chr2:234669074C>T	bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding							7.97799	KEEP	7	2	-1	32	33	7	2	-1	16.902528	32	33	0.114754	1	0	0	0	0	0	0	1	0	--	--		0	T			UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Silent_p.I47I	46	GBM-06-0209-TP	p.I47I	C	TTGGGGCCATCCAGCAGCTGC	NM_000463	NP_000454	234669074	P22309	UD11_HUMAN	0		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	1	156	+	T	T		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	Silent	47						
UGT1A10	0	broad.mit.edu	GRCh37	2	234545195	234545195	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0789-01	TCGA-14-0789-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344644.5:c.27C>T	p.Pro9=	p.P9=	ENST00000344644	NM_019075.2	9	ccC/ccT	0			1			T	P	uc002vur.2	protein_coding	YES	CCDS33403.1			27/1593									ovary(2)|skin(1)	3	c.(25-27)CCC>CCT			Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM	UDP glycosyltransferase 1 family, polypeptide				ENSP00000343838		5-Jan									COSM3407685	5-Jan	.		ENST00000344644	Transcript			flavone metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding	ENSG00000242515	g.chr2:234545195C>T	12531			LOW								--	--	1																																		UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Silent_p.P9P	1	1			p.P9P	NM_019075	NP_061948			1	UD110_HUMAN	UGT1A10	HGNC	Q9HAW8	UD110_HUMAN		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Q5DT02_HUMAN,Q13406_HUMAN		1	73	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	UPI000006D7E8	9	MARAGWTSPVPLCVCLLLTCGFA -> MAPRRVDQPRSFMC VSTADLWLC (in Ref. 1).				SNV	UGT1A10,synonymous_variant,p.=,ENST00000344644,NM_019075.2;UGT1A10,synonymous_variant,p.=,ENST00000373445,;UGT1A8,intron_variant,,ENST00000373450,NM_019076.4;	uc002vur.2	c.27C>T	96/2408	2	2			c.27C>T						2	SNP	c.(25-27)CCC>CCT	37	37			ovary(2)|skin(1)	3	Broad	UDP glycosyltransferase 1 family, polypeptide			234545195		0.572	ENSG00000242515	16693	g.chr2:234545195C>T	flavone metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding							99.388834	KEEP	32	9	-1	81	51	32	9	-1	107.841218	81	51	0.251656	1	0	0	0	0	0	0	1	0	--	--		0	T			UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Silent_p.P9P	136	GBM-14-0789-TP	p.P9P	C	GGACCAGCCCCGTTCCTTTAT	NM_019075	NP_061948	234545195	Q9HAW8	UD110_HUMAN	0		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	73	+	T	T		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	Silent	9	MARAGWTSPVPLCVCLLLTCGFA -> MAPRRVDQPRSFMC VSTADLWLC (in Ref. 1).					
UGT1A10	0	broad.mit.edu	GRCh37	2	234545533	234545533	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs145610800		TCGA-19-5959-01	TCGA-19-5959-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344644.5:c.365C>T	p.Ser122Leu	p.S122L	ENST00000344644	NM_019075.2	122	tCg/tTg	0	T:0.0002		1			T	S/L	uc002vur.2	protein_coding	YES	CCDS33403.1			365/1593									ovary(2)|skin(1)	3	c.(364-366)TCG>TTG			Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF138,Low_complexity_(Seg):seg,Superfamily_domains:SSF53756	UDP glycosyltransferase 1 family, polypeptide			T:0	ENSP00000343838		5-Jan	2.47E-05	0.000291							rs145610800,COSM3407686	5-Jan	.		ENST00000344644	Transcript			flavone metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding	ENSG00000242515	g.chr2:234545533C>T	12531			MODERATE		1.12	low	getma.org/?cm=msa&ty=f&p=UD110_HUMAN&rb=26&re=521&var=S122L	NA	getma.org/?cm=var&var=hg19,2,234545533,C,T&fts=all	S122L	--	--	1																																		UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Missense_Mutation_p.S122L	0,1	1		benign(0.156)	p.S122L	NM_019075	NP_061948		tolerated(0.14)	0,1	UD110_HUMAN	UGT1A10	HGNC	Q9HAW8	UD110_HUMAN		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Q5DT02_HUMAN,Q13406_HUMAN		1	411	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	UPI000006D7E8	122					SNV	UGT1A10,missense_variant,p.Ser122Leu,ENST00000344644,NM_019075.2;UGT1A10,missense_variant,p.Ser122Leu,ENST00000373445,;UGT1A8,intron_variant,,ENST00000373450,NM_019076.4;	uc002vur.2	c.365C>T	434/2408	2	2			c.365C>T						2	SNP	c.(364-366)TCG>TTG	28	28			ovary(2)|skin(1)	3	Broad	UDP glycosyltransferase 1 family, polypeptide			234545533		0.363	ENSG00000242515	16693	g.chr2:234545533C>T	flavone metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding							168.296495	KEEP	27	36	-1	38	53	27	36	-1	169.165767	38	53	0.413534	1	0	0	0	0	1	0	0	0	--	--		0	T			UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Missense_Mutation_p.S122L	177	GBM-19-5959-TP	p.S122L	C	TTATTTTTTTCGCATTGCAGG	NM_019075	NP_061948	234545533	Q9HAW8	UD110_HUMAN	0		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	411	+	T	T		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	Missense_Mutation	122						
UGT1A4	54657		GRCh37	2	234628246	234628246	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000373409.3:c.780C>T	p.Asp260=	p.D260=	ENST00000373409	NM_007120.2	260	gaC/gaT	0																																																																																																																																																																																																																																												
UGT1A5	54579	broad.mit.edu	GRCh37	2	234621856	234621856	+	synonymous_variant	Silent	SNP	C	C	T	rs17874940		TCGA-06-0145-01	TCGA-06-0145-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373414.3:c.219C>T	p.Asn73=	p.N73=	ENST00000373414		73	aaC/aaT	0			1			T	N	uc002vuw.2	protein_coding	YES	CCDS33404.1			219/1605									skin(1)	1	c.(217-219)AAC>AAT			Superfamily_domains:SSF53756,Pfam_domain:PF00201,hmmpanther:PTHR11926:SF166,hmmpanther:PTHR11926	UDP glycosyltransferase 1 family, polypeptide A5				ENSP00000362513		5-Jan									COSM2149727	5-Jan	.		ENST00000373414	Transcript			xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	ENSG00000240224	g.chr2:234621856C>T	12537			LOW								--	--	1																																		UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Silent_p.N73N	1	1			p.N73N	NM_019078	NP_061951			1	UD15_HUMAN	UGT1A5	HGNC	P35504	UD15_HUMAN		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)	Q5QTE5_HUMAN,Q5DSZ9_HUMAN		1	219	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)	UPI0000001043	73					SNV	UGT1A5,synonymous_variant,p.=,ENST00000373414,;UGT1A8,synonymous_variant,p.=,ENST00000608381,NM_019078.1;UGT1A6,intron_variant,,ENST00000305139,NM_001072.3;UGT1A9,intron_variant,,ENST00000354728,;UGT1A10,intron_variant,,ENST00000344644,NM_019075.2;UGT1A8,intron_variant,,ENST00000373450,NM_019076.4;UGT1A8,intron_variant,,ENST00000609637,NM_021027.2;UGT1A7,intron_variant,,ENST00000373426,NM_019077.2;UGT1A10,intron_variant,,ENST00000373445,;UGT1A6,intron_variant,,ENST00000373424,NM_205862.1;UGT1A6,intron_variant,,ENST00000406651,;AC114812.8,upstream_gene_variant,,ENST00000439336,;UGT1A6,intron_variant,,ENST00000480628,;UGT1A6,intron_variant,,ENST00000478062,;UGT1A6,intron_variant,,ENST00000446481,;UGT1A6,intron_variant,,ENST00000484784,;	uc002vuw.2	c.219C>T	219/2345	1	1			c.219C>T						2	SNP	c.(217-219)AAC>AAT	1	1			skin(1)	1	Broad	UDP glycosyltransferase 1 family, polypeptide A5			234621856		0.512	ENSG00000240224	16696	g.chr2:234621856C>T	xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity							137.52504	KEEP	26	26	-1	51	50	26	26	-1	140.42209	51	50	0.347518	1	0	0	0	0	0	0	1	0	--	--		0	T			UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Silent_p.N73N	23	GBM-06-0145-TP	p.N73N	C	AAGAAGAGAACTTTTTCACCC	NM_019078	NP_061951	234621856	P35504	UD15_HUMAN	0		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)	1	219	+	T	T		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)	Silent	73						
UGT1A5	0	broad.mit.edu	GRCh37	2	234621782	234621782	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs41270755	byFrequency	TCGA-32-1979-01	TCGA-32-1979-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373414.3:c.145C>T	p.Arg49Trp	p.R49W	ENST00000373414		49	Cgg/Tgg	0	T:0.0002	T:0	1	T:0.0029		T	R/W	uc002vuw.2	protein_coding	YES	CCDS33404.1			145/1605									skin(1)	1	c.(145-147)CGG>TGG			Superfamily_domains:SSF53756,Pfam_domain:PF00201,hmmpanther:PTHR11926:SF166,hmmpanther:PTHR11926	UDP glycosyltransferase 1 family, polypeptide A5		T:0	T:0.0023	ENSP00000362513	T:0.003	5-Jan	0.00089	9.61E-05	0.000519			0.0015		6.06E-05	rs41270755,COSM3407690	5-Jan	common_variant		ENST00000373414	Transcript		T:0.0010	xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	ENSG00000240224	g.chr2:234621782C>T	12537			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=UD15_HUMAN&rb=29&re=525&var=R49W	NA	getma.org/?cm=var&var=hg19,2,234621782,C,T&fts=all	R49W	--	--	1																																		UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Missense_Mutation_p.R49W	0,1	1	19572200	possibly_damaging(0.883)	p.R49W	NM_019078	NP_061951	T:0	deleterious(0.01)	0,1	UD15_HUMAN	UGT1A5	HGNC	P35504	UD15_HUMAN		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)	Q5QTE5_HUMAN,Q5DSZ9_HUMAN		1	145	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)	UPI0000001043	49					SNV	UGT1A5,missense_variant,p.Arg49Trp,ENST00000373414,;UGT1A8,missense_variant,p.Arg49Trp,ENST00000608381,NM_019078.1;UGT1A6,intron_variant,,ENST00000305139,NM_001072.3;UGT1A9,intron_variant,,ENST00000354728,;UGT1A10,intron_variant,,ENST00000344644,NM_019075.2;UGT1A8,intron_variant,,ENST00000373450,NM_019076.4;UGT1A8,intron_variant,,ENST00000609637,NM_021027.2;UGT1A7,intron_variant,,ENST00000373426,NM_019077.2;UGT1A10,intron_variant,,ENST00000373445,;UGT1A6,intron_variant,,ENST00000373424,NM_205862.1;UGT1A6,intron_variant,,ENST00000406651,;AC114812.8,upstream_gene_variant,,ENST00000439336,;UGT1A6,intron_variant,,ENST00000480628,;UGT1A6,intron_variant,,ENST00000478062,;UGT1A6,intron_variant,,ENST00000446481,;UGT1A6,intron_variant,,ENST00000484784,;	uc002vuw.2	c.145C>T	145/2345	2	2			c.145C>T						2	SNP	c.(145-147)CGG>TGG	33	33			skin(1)	1	Broad	UDP glycosyltransferase 1 family, polypeptide A5			234621782		0.582	ENSG00000240224	16696	g.chr2:234621782C>T	xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity							61.935447	KEEP	7	16	-1	17	19	7	16	-1	62.498934	17	19	0.392857	1	0	0	0	0	1	0	0	0	--	--		0	T			UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Missense_Mutation_p.R49W	230	GBM-32-1979-TP	p.R49W	C	GGAGGCCTTGCGGGACCTCCA	NM_019078	NP_061951	234621782	P35504	UD15_HUMAN	0		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)	1	145	+	T	T		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)	Missense_Mutation	49						
UGT1A6	54578	broad.mit.edu	GRCh37	2	234602272	234602272	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0122-01	TCGA-06-0122-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305139.6:c.622C>T	p.Arg208Ter	p.R208*	ENST00000305139	NM_001072.3	208	Cga/Tga	0		T:0.0008	1	T:0		T	R/*	uc002vuv.3	protein_coding	YES	CCDS2507.1			622/1599										0	c.(622-624)CGA>TGA			Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF170,Superfamily_domains:SSF53756	UDP glycosyltransferase 1 family, polypeptide A6		T:0		ENSP00000303174	T:0	5-Jan	9.88E-05	0.000192						0.000606	rs571650145,COSM2149224	5-Jan	common_variant		ENST00000305139	Transcript		T:0.0002	xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	ENSG00000167165	g.chr2:234602272C>T	12538			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,234602272,C,T&fts=all	R208*	--	--	1																																		UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Nonsense_Mutation_p.R208*	0,1	1			p.R208*	NM_001072	NP_001063	T:0		0,1	UD16_HUMAN	UGT1A6	HGNC	P19224	UD16_HUMAN		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Q5DSZ8_HUMAN,H7C5F8_HUMAN,C9JMY5_HUMAN		1	761	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)	UPI000007021F	208					SNV	UGT1A6,stop_gained,p.Arg208Ter,ENST00000305139,NM_001072.3;UGT1A9,intron_variant,,ENST00000354728,;UGT1A10,intron_variant,,ENST00000344644,NM_019075.2;UGT1A8,intron_variant,,ENST00000373450,NM_019076.4;UGT1A8,intron_variant,,ENST00000609637,NM_021027.2;UGT1A7,intron_variant,,ENST00000373426,NM_019077.2;UGT1A10,intron_variant,,ENST00000373445,;UGT1A6,intron_variant,,ENST00000373424,NM_205862.1;UGT1A7,downstream_gene_variant,,ENST00000485022,;UGT1A6,upstream_gene_variant,,ENST00000406651,;UGT1A6,downstream_gene_variant,,ENST00000441351,;AC114812.8,non_coding_transcript_exon_variant,,ENST00000439336,;UGT1A6,intron_variant,,ENST00000480628,;UGT1A6,upstream_gene_variant,,ENST00000478062,;UGT1A6,intron_variant,,ENST00000446481,;UGT1A6,upstream_gene_variant,,ENST00000484784,;	uc002vuv.3	c.622C>T	761/2479	5	1			c.622C>T						2	SNP	c.(622-624)CGA>TGA	7	7				0	Broad	UDP glycosyltransferase 1 family, polypeptide A6			234602272		0.448	ENSG00000167165	16697	g.chr2:234602272C>T	xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity							226.203283	KEEP	47	34	-1	80	56	47	34	-1	228.410171	80	56	0.38806	1	0	0	0	0	0	1	0	0	--	--		0	T			UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Nonsense_Mutation_p.R208*	10	GBM-06-0122-TP	p.R208*	C	TTTTTCCCAACGAGTGGCCAA	NM_001072	NP_001063	234602272	P19224	UD16_HUMAN	0		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	1	761	+	T	T		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)	Nonsense_Mutation	208						
UGT1A9	0	broad.mit.edu	GRCh37	2	234581022	234581022	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01	TCGA-14-3476-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354728.4:c.442G>A	p.Asp148Asn	p.D148N	ENST00000354728		148	Gat/Aat	0			1			A	D/N	uc002vus.2	protein_coding	YES	CCDS2505.1			442/1593									ovary(3)|breast(1)|skin(1)	5	c.(442-444)GAT>AAT			hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF138,Pfam_domain:PF00201,Superfamily_domains:SSF53756	UDP glycosyltransferase 1 family, polypeptide A9	Entacapone(DB00494)|Etodolac(DB00749)|Indomethacin(DB00328)|Irinotecan(DB00762)|Mycophenolic acid(DB01024)|Oxyphenonium(DB00219)|Propofol(DB00818)|Sorafenib(DB00398)			ENSP00000346768		5-Jan									rs767982435,COSM210433	5-Jan	.		ENST00000354728	Transcript			drug metabolic process|flavone metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding	ENSG00000241119	g.chr2:234581022G>A	12541			MODERATE		3.48	medium	getma.org/?cm=msa&ty=f&p=UD19_HUMAN&rb=26&re=521&var=D148N	NA	getma.org/?cm=var&var=hg19,2,234581022,G,A&fts=all	D148N	--	--	1																																		UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Missense_Mutation_p.D148N	0,1	1		probably_damaging(0.999)	p.D148N	NM_021027	NP_066307		deleterious(0.01)	0,1	UD19_HUMAN	UGT1A9	HGNC	O60656	UD19_HUMAN		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Q5DSZ5_HUMAN,Q53E75_HUMAN,A9UKF4_HUMAN		1	479	+		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)	UPI0000044213	148					SNV	UGT1A9,missense_variant,p.Asp148Asn,ENST00000354728,;UGT1A8,missense_variant,p.Asp148Asn,ENST00000609637,NM_021027.2;UGT1A10,intron_variant,,ENST00000344644,NM_019075.2;UGT1A8,intron_variant,,ENST00000373450,NM_019076.4;UGT1A10,intron_variant,,ENST00000373445,;	uc002vus.2	c.442G>A	524/2416	1	1			c.442G>A						2	SNP	c.(442-444)GAT>AAT	64	64			ovary(3)|breast(1)|skin(1)	5	Broad	UDP glycosyltransferase 1 family, polypeptide A9		Entacapone(DB00494)|Etodolac(DB00749)|Indomethacin(DB00328)|Irinotecan(DB00762)|Mycophenolic acid(DB01024)|Oxyphenonium(DB00219)|Propofol(DB00818)|Sorafenib(DB00398)	234581022		0.373	ENSG00000241119	16700	g.chr2:234581022G>A	drug metabolic process|flavone metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding							-48.90287	KEEP	1	5	-1	139	117	1	5	-1	8.390246	139	117	0.022222	1	0	0	0	0	1	0	0	0	--	--		0	A			UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Missense_Mutation_p.D148N	151	GBM-14-3476-TP	p.D148N	G	AGTGTTTCTCGATCCTTTTGA	NM_021027	NP_066307	234581022	O60656	UD19_HUMAN	0		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	1	479	+	A	A		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)	Missense_Mutation	148						
UGT2A1	0	broad.mit.edu	GRCh37	4	70455276	70455276	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5219-01	TCGA-28-5219-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000503640.1:c.1398G>A	p.Met466Ile	p.M466I	ENST00000503640	NM_006798.3	466	atG/atA	0			1			T	M/I	uc003hem.3	protein_coding	YES	CCDS3529.1			1398/1584									ovary(1)	1	c.(1396-1398)ATG>ATA			Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF116,Superfamily_domains:SSF53756	UDP glucuronosyltransferase 2 family,				ENSP00000424478		6-Jun									COSM3409438,COSM3409437	6-Jun	.		ENST00000503640	Transcript			detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity	ENSG00000173610	g.chr4:70455276C>T	12542			MODERATE		0.995	low	getma.org/?cm=msa&ty=f&p=UD2A1_HUMAN&rb=21&re=524&var=M466I	NA	getma.org/?cm=var&var=hg19,4,70455276,C,T&fts=all	M466I	--	--	1																																		UGT2A1_uc011caq.1_Missense_Mutation_p.M632I|UGT2A1_uc010ihu.2_Missense_Mutation_p.M466I|UGT2A1_uc010iht.2_Missense_Mutation_p.M422I|UGT2A1_uc010ihs.2_Missense_Mutation_p.M467I	1,1	1		benign(0.344)	p.M466I	NM_006798	NP_006789		deleterious(0.01)	1,1	UD2A1_HUMAN	UGT2A1	HGNC	Q9Y4X1	UD2A1_HUMAN			D6RHF3_HUMAN		6	1461	-			UPI000013DE58	466			Extracellular (Potential).		SNV	UGT2A1,missense_variant,p.Met466Ile,ENST00000503640,NM_006798.3;UGT2A2,missense_variant,p.Met475Ile,ENST00000457664,NM_001105677.2;UGT2A1,missense_variant,p.Met422Ile,ENST00000512704,;UGT2A1,missense_variant,p.Met632Ile,ENST00000514019,NM_001252274.1;UGT2A1,missense_variant,p.Met466Ile,ENST00000286604,NM_001252275.1;UGT2A2,missense_variant,p.Met476Ile,ENST00000604629,;UGT2A2,missense_variant,p.Met432Ile,ENST00000604021,;UGT2A1,downstream_gene_variant,,ENST00000502343,;RP11-401E5.2,upstream_gene_variant,,ENST00000506662,;	uc003hem.3	c.1398G>A	1454/2595	2	2			c.1398G>A						4	SNP	c.(1396-1398)ATG>ATA	45	45			ovary(1)	1	Broad	UDP glucuronosyltransferase 2 family,			70455276		0.478	ENSG00000173610	16701	g.chr4:70455276C>T	detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity							151.874237	KEEP	31	42	-1	120	98	31	42	-1	167.118583	120	98	0.25	1	0	0	0	0	1	0	0	0	--	--		0	T			UGT2A1_uc011caq.1_Missense_Mutation_p.M632I|UGT2A1_uc010ihu.2_Missense_Mutation_p.M466I|UGT2A1_uc010iht.2_Missense_Mutation_p.M422I|UGT2A1_uc010ihs.2_Missense_Mutation_p.M467I	225	GBM-28-5219-TP	p.M466I	C	CTTTGTGGCGCATGACAAACT	NM_006798	NP_006789	70455276	Q9Y4X1	UD2A1_HUMAN	0			6	1461	-	T	T			Missense_Mutation	466			Extracellular (Potential).			
UGT2A1	0	broad.mit.edu	GRCh37	4	70513056	70513056	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-2495-01	TCGA-32-2495-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000503640.1:c.307A>G	p.Thr103Ala	p.T103A	ENST00000503640	NM_006798.3	103	Acc/Gcc	0			1			C	T/A	uc003hem.3	protein_coding	YES	CCDS3529.1			307/1584									ovary(1)	1	c.(307-309)ACC>GCC			Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF116,Superfamily_domains:SSF53756	UDP glucuronosyltransferase 2 family,				ENSP00000424478		6-Jan									COSM3409439	6-Jan	.		ENST00000503640	Transcript			detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity	ENSG00000173610	g.chr4:70513056T>C	12542			MODERATE		1.165	low	getma.org/?cm=msa&ty=f&p=UD2A1_HUMAN&rb=21&re=524&var=T103A	NA	getma.org/?cm=var&var=hg19,4,70513056,T,C&fts=all	T103A	--	--	1																																		UGT2A1_uc011caq.1_Missense_Mutation_p.T103A|UGT2A1_uc010ihu.2_Missense_Mutation_p.T103A|UGT2A1_uc010iht.2_Missense_Mutation_p.T103A	1	1		benign(0.081)	p.T103A	NM_006798	NP_006789		tolerated(0.16)	1	UD2A1_HUMAN	UGT2A1	HGNC	Q9Y4X1	UD2A1_HUMAN			D6RHF3_HUMAN		1	370	-			UPI000013DE58	103			Extracellular (Potential).		SNV	UGT2A1,missense_variant,p.Thr103Ala,ENST00000503640,NM_006798.3;UGT2A1,missense_variant,p.Thr103Ala,ENST00000512704,;UGT2A1,missense_variant,p.Thr103Ala,ENST00000514019,NM_001252274.1;UGT2A1,missense_variant,p.Thr103Ala,ENST00000286604,NM_001252275.1;UGT2A1,missense_variant,p.Thr103Ala,ENST00000505512,;	uc003hem.3	c.307A>G	363/2595	3	3			c.307A>G						4	SNP	c.(307-309)ACC>GCC	1	1			ovary(1)	1	Broad	UDP glucuronosyltransferase 2 family,			70513056		0.408	ENSG00000173610	16701	g.chr4:70513056T>C	detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity							157.126972	KEEP	18	32	-1	42	31	18	32	-1	157.770463	42	31	0.418182	1	0	0	0	0	1	0	0	0	--	--		0	C			UGT2A1_uc011caq.1_Missense_Mutation_p.T103A|UGT2A1_uc010ihu.2_Missense_Mutation_p.T103A|UGT2A1_uc010iht.2_Missense_Mutation_p.T103A	237	GBM-32-2495-TP	p.T103A	T	CTCCAAATGGTTGAAGGAGAT	NM_006798	NP_006789	70513056	Q9Y4X1	UD2A1_HUMAN	0			1	370	-	C	C			Missense_Mutation	103			Extracellular (Potential).			
UGT2A2	574537	broad.mit.edu	GRCh37	4	70455275	70455275	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000457664.2:c.1426C>T	p.Arg476Cys	p.R476C	ENST00000457664	NM_001105677.2	476	Cgc/Tgc	0			1			A	R/C	uc003hem.3	protein_coding	YES	CCDS3529.1			1399/1584									ovary(1)	1	c.(1399-1401)CGC>TGC			Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF116,Superfamily_domains:SSF53756	UDP glucuronosyltransferase 2 family,				ENSP00000424478		6-Jun	4.94E-05			0.000462		3.00E-05			rs767856867,COSM2149756,COSM2149755	6-Jun	common_variant		ENST00000503640	Transcript			detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity	ENSG00000173610	g.chr4:70455275G>A	12542			MODERATE		2.68	medium	getma.org/?cm=msa&ty=f&p=UD2A1_HUMAN&rb=21&re=524&var=R467C	NA	getma.org/?cm=var&var=hg19,4,70455275,G,A&fts=all	R467C	--	--	1																																		UGT2A1_uc011caq.1_Missense_Mutation_p.R633C|UGT2A1_uc010ihu.2_Missense_Mutation_p.R467C|UGT2A1_uc010iht.2_Missense_Mutation_p.R423C|UGT2A1_uc010ihs.2_Missense_Mutation_p.R468C	0,1,1	1		benign(0.262)	p.R467C	NM_006798	NP_006789		deleterious(0.01)	0,1,1	UD2A1_HUMAN	UGT2A1	HGNC	Q9Y4X1	UD2A1_HUMAN			D6RHF3_HUMAN		6	1462	-			UPI000013DE58	467			Extracellular (Potential).		SNV	UGT2A1,missense_variant,p.Arg467Cys,ENST00000503640,NM_006798.3;UGT2A2,missense_variant,p.Arg476Cys,ENST00000457664,NM_001105677.2;UGT2A1,missense_variant,p.Arg423Cys,ENST00000512704,;UGT2A1,missense_variant,p.Arg633Cys,ENST00000514019,NM_001252274.1;UGT2A1,missense_variant,p.Arg467Cys,ENST00000286604,NM_001252275.1;UGT2A2,missense_variant,p.Arg477Cys,ENST00000604629,;UGT2A2,missense_variant,p.Arg433Cys,ENST00000604021,;UGT2A1,downstream_gene_variant,,ENST00000502343,;RP11-401E5.2,upstream_gene_variant,,ENST00000506662,;	uc003hem.3	c.1399C>T	1455/2595	1	1			c.1399C>T						4	SNP	c.(1399-1401)CGC>TGC	55	55			ovary(1)	1	Broad	UDP glucuronosyltransferase 2 family,			70455275		0.478	ENSG00000173610	16701	g.chr4:70455275G>A	detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity							206.258255	KEEP	45	30	-1	62	70	45	30	-1	209.185004	62	70	0.369231	1	0	0	0	0	1	0	0	0	--	--		0	A			UGT2A1_uc011caq.1_Missense_Mutation_p.R633C|UGT2A1_uc010ihu.2_Missense_Mutation_p.R467C|UGT2A1_uc010iht.2_Missense_Mutation_p.R423C|UGT2A1_uc010ihs.2_Missense_Mutation_p.R468C	23	GBM-06-0145-TP	p.R467C	G	CCTTTGTGGCGCATGACAAAC	NM_006798	NP_006789	70455275	Q9Y4X1	UD2A1_HUMAN	0			6	1462	-	A	A			Missense_Mutation	467			Extracellular (Potential).			
UGT2A2	574537		GRCh37	4	70455172	70455172	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000457664.2:c.1529C>T	p.Thr510Met	p.T510M	ENST00000457664	NM_001105677.2	510	aCg/aTg	0																																																																																																																																																																																																																																												
UGT2A3	0	broad.mit.edu	GRCh37	4	69796959	69796959	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C			TCGA-14-1823-01	TCGA-14-1823-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251566.4:c.998T>G	p.Val333Gly	p.V333G	ENST00000251566	NM_024743.3	333	gTg/gGg	0			1			C	V/G	uc003hef.2	protein_coding	YES	CCDS3525.1			998/1584									ovary(1)|skin(1)	2	c.(997-999)GTG>GGG			Superfamily_domains:SSF53756,Gene3D:3.40.50.2000,Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF130	UDP glucuronosyltransferase 2 family,				ENSP00000251566		6-Apr									COSM3409423	6-Apr	.		ENST00000251566	Transcript				integral to membrane	glucuronosyltransferase activity	ENSG00000135220	g.chr4:69796959A>C	28528			MODERATE		3.84	high	getma.org/?cm=msa&ty=f&p=UD2A3_HUMAN&rb=24&re=525&var=V333G	getma.org/pdb.php?prot=UD2A3_HUMAN&from=24&to=525&var=V333G	getma.org/?cm=var&var=hg19,4,69796959,A,C&fts=all	V333G	--	--	1																																		UGT2A3_uc010ihp.1_RNA	1	1		probably_damaging(1)	p.V333G	NM_024743	NP_079019		deleterious(0)	1	UD2A3_HUMAN	UGT2A3	HGNC	Q6UWM9	UD2A3_HUMAN			F5GY78_HUMAN		4	1029	-			UPI000004E644	333			Extracellular (Potential).		SNV	UGT2A3,missense_variant,p.Val333Gly,ENST00000251566,NM_024743.3;UGT2A3,missense_variant,p.Val44Gly,ENST00000420231,;UGT2A3,splice_region_variant,,ENST00000503012,;	uc003hef.2	c.998T>G	1029/2965	4	4			c.998T>G						4	SNP	c.(997-999)GTG>GGG	33	33			ovary(1)|skin(1)	2	Broad	UDP glucuronosyltransferase 2 family,			69796959		0.373	ENSG00000135220	16703	g.chr4:69796959A>C		integral to membrane	glucuronosyltransferase activity							25.655756	KEEP	6	3	-1	15	16	6	3	-1	28.433348	15	16	0.225	1	0	0	0	0	1	0	0	0	--	--		0	C			UGT2A3_uc010ihp.1_RNA	147	GBM-14-1823-TP	p.V333G	A	CCTCCATAACACCTACGGAAG	NM_024743	NP_079019	69796959	Q6UWM9	UD2A3_HUMAN	0			4	1029	-	C	C			Missense_Mutation	333			Extracellular (Potential).			
UGT2A3	0	broad.mit.edu	GRCh37	4	69798344	69798344	+	splice_donor_variant	Splice_Site	SNP	A	A	G			TCGA-19-2629-01	TCGA-19-2629-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251566.4:c.996+2T>C		p.X332_splice	ENST00000251566	NM_024743.3			0			1			G		uc003hef.2	protein_coding	YES	CCDS3525.1			996/1584									ovary(1)|skin(1)	2	c.e3+1				UDP glucuronosyltransferase 2 family,				ENSP00000251566											COSM3409424		.		ENST00000251566	Transcript				integral to membrane	glucuronosyltransferase activity	ENSG00000135220	g.chr4:69798344A>G	28528			HIGH	5-Mar							--	--	1																																		UGT2A3_uc010ihp.1_Splice_Site	1	1			p.K332_splice	NM_024743	NP_079019			1	UD2A3_HUMAN	UGT2A3	HGNC	Q6UWM9	UD2A3_HUMAN			F5GY78_HUMAN		3	1027	-			UPI000004E644						SNV	UGT2A3,splice_donor_variant,,ENST00000251566,NM_024743.3;UGT2A3,splice_donor_variant,,ENST00000420231,;UGT2A3,splice_donor_variant,,ENST00000503012,;	uc003hef.2	c.996_splice	-/2965	5	4			c.996_splice						4	SNP	c.e3+1	17	17			ovary(1)|skin(1)	2	Broad	UDP glucuronosyltransferase 2 family,			69798344		0.398	ENSG00000135220	16703	g.chr4:69798344A>G		integral to membrane	glucuronosyltransferase activity							-9.149146	KEEP	13	8	-1	155	137	13	8	-1	47.278894	155	137	0.060714	1	0	0	0	0	0	0	0	1	--	--		0	G			UGT2A3_uc010ihp.1_Splice_Site	166	GBM-19-2629-TP	p.K332_splice	A	GGTTTTACTGACCTTCTGTGG	NM_024743	NP_079019	69798344	Q6UWM9	UD2A3_HUMAN	0			3	1027	-	G	G			Splice_Site							
UGT2A3	0	broad.mit.edu	GRCh37	4	69798434	69798434	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-6450-01	TCGA-28-6450-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251566.4:c.908T>C	p.Val303Ala	p.V303A	ENST00000251566	NM_024743.3	303	gTg/gCg	0			1			G	V/A	uc003hef.2	protein_coding	YES	CCDS3525.1			908/1584									ovary(1)|skin(1)	2	c.(907-909)GTG>GCG			Superfamily_domains:SSF53756,Gene3D:3.40.50.2000,Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF130	UDP glucuronosyltransferase 2 family,				ENSP00000251566		6-Mar									COSM3409425	6-Mar	.		ENST00000251566	Transcript				integral to membrane	glucuronosyltransferase activity	ENSG00000135220	g.chr4:69798434A>G	28528			MODERATE		3.44	medium	getma.org/?cm=msa&ty=f&p=UD2A3_HUMAN&rb=24&re=525&var=V303A	getma.org/pdb.php?prot=UD2A3_HUMAN&from=24&to=525&var=V303A	getma.org/?cm=var&var=hg19,4,69798434,A,G&fts=all	V303A	--	--	1																																		UGT2A3_uc010ihp.1_RNA	1	1		probably_damaging(0.955)	p.V303A	NM_024743	NP_079019		deleterious(0)	1	UD2A3_HUMAN	UGT2A3	HGNC	Q6UWM9	UD2A3_HUMAN			F5GY78_HUMAN		3	939	-			UPI000004E644	303			Extracellular (Potential).		SNV	UGT2A3,missense_variant,p.Val303Ala,ENST00000251566,NM_024743.3;UGT2A3,missense_variant,p.Val14Ala,ENST00000420231,;UGT2A3,3_prime_UTR_variant,,ENST00000503012,;	uc003hef.2	c.908T>C	939/2965	4	4			c.908T>C						4	SNP	c.(907-909)GTG>GCG	29	29			ovary(1)|skin(1)	2	Broad	UDP glucuronosyltransferase 2 family,			69798434		0.363	ENSG00000135220	16703	g.chr4:69798434A>G		integral to membrane	glucuronosyltransferase activity							154.468935	KEEP	25	31	-1	56	81	25	31	-1	160.684322	56	81	0.298246	1	0	0	0	0	1	0	0	0	--	--		0	G			UGT2A3_uc010ihp.1_RNA	227	GBM-28-6450-TP	p.V303A	A	AGAAAACACCACAATACCATC	NM_024743	NP_079019	69798434	Q6UWM9	UD2A3_HUMAN	0			3	939	-	G	G			Missense_Mutation	303			Extracellular (Potential).			
UGT2A3	0	broad.mit.edu	GRCh37	4	69795704	69795704	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-41-2573-01	TCGA-41-2573-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000251566.4:c.1411G>T	p.Ala471Ser	p.A471S	ENST00000251566	NM_024743.3	471	Gcc/Tcc	0			1			A	A/S	uc003hef.2	protein_coding	YES	CCDS3525.1			1411/1584									ovary(1)|skin(1)	2	c.(1411-1413)GCC>TCC			Superfamily_domains:SSF53756,Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF130	UDP glucuronosyltransferase 2 family,				ENSP00000251566		6-Jun									COSM3409422	6-Jun	.		ENST00000251566	Transcript				integral to membrane	glucuronosyltransferase activity	ENSG00000135220	g.chr4:69795704C>A	28528			MODERATE		3.44	medium	getma.org/?cm=msa&ty=f&p=UD2A3_HUMAN&rb=24&re=525&var=A471S	NA	getma.org/?cm=var&var=hg19,4,69795704,C,A&fts=all	A471S	--	--	1																																		UGT2A3_uc010ihp.1_RNA	1	1		probably_damaging(0.991)	p.A471S	NM_024743	NP_079019		deleterious(0)	1	UD2A3_HUMAN	UGT2A3	HGNC	Q6UWM9	UD2A3_HUMAN			F5GY78_HUMAN		6	1442	-			UPI000004E644	471			Extracellular (Potential).		SNV	UGT2A3,missense_variant,p.Ala471Ser,ENST00000251566,NM_024743.3;UGT2A3,missense_variant,p.Ala182Ser,ENST00000420231,;UGT2A3,3_prime_UTR_variant,,ENST00000503012,;	uc003hef.2	c.1411G>T	1442/2965	1	1			c.1411G>T						4	SNP	c.(1411-1413)GCC>TCC	51	51			ovary(1)|skin(1)	2	Broad	UDP glucuronosyltransferase 2 family,			69795704		0.488	ENSG00000135220	16703	g.chr4:69795704C>A		integral to membrane	glucuronosyltransferase activity							182.181185	KEEP	35	28	0.444444444	42	38	35	28	0.444444444	182.458299	42	38	0.451128	1	0	0	0	0	1	0	0	0	--	--		0	A			UGT2A3_uc010ihp.1_RNA	252	GBM-41-2573-TP	p.A471S	C	AGGTGCTTGGCTCCTTTGTGG	NM_024743	NP_079019	69795704	Q6UWM9	UD2A3_HUMAN	0			6	1442	-	A	A			Missense_Mutation	471			Extracellular (Potential).			
UGT2A3	79799		GRCh37	4	69817091	69817091	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000251566.4:c.388T>C	p.Tyr130His	p.Y130H	ENST00000251566	NM_024743.3	130	Tac/Cac	0																																																																																																																																																																																																																																												
UGT2B10	7365	broad.mit.edu	GRCh37	4	69696459	69696459	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-06-0877-01	TCGA-06-0877-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265403.7:c.1449C>G	p.Thr483=	p.T483=	ENST00000265403	NM_001075.4	483	acC/acG	0			1			G	T	uc003hee.2	protein_coding	YES				1449/1587									skin(3)|ovary(2)	5	c.(1447-1449)ACC>ACG			Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF124	UDP glucuronosyltransferase 2B10 isoform 1				ENSP00000265403		6-Jun									COSM3409419,COSM3409418	6-Jun	.		ENST00000265403	Transcript			lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	ENSG00000109181	g.chr4:69696459C>G	12544			LOW								--	--	1																																		UGT2B10_uc011cam.1_Silent_p.T399T	1,1	1			p.T483T	NM_001075	NP_001066			1,1	UDB10_HUMAN	UGT2B10	HGNC	P36537	UDB10_HUMAN					6	1474	+			UPI0000137A96	483					SNV	UGT2B10,synonymous_variant,p.=,ENST00000265403,NM_001075.4;UGT2B10,synonymous_variant,p.=,ENST00000458688,NM_001144767.1;RP11-468N14.3,downstream_gene_variant,,ENST00000512503,;	uc003hee.2	c.1449C>G	1476/1931	3	3			c.1449C>G						4	SNP	c.(1447-1449)ACC>ACG	5	5			skin(3)|ovary(2)	5	Broad	UDP glucuronosyltransferase 2B10 isoform 1			69696459		0.483	ENSG00000109181	16704	g.chr4:69696459C>G	lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	Melanoma(133;755 1763 25578 26334 46021)			Melanoma(133;755 1763 25578 26334 46021)			259.28456	KEEP	52	49	-1	108	106	52	49	-1	267.478571	108	106	0.31769	1	0	0	0	0	0	0	1	0	--	--		0	G			UGT2B10_uc011cam.1_Silent_p.T399T	73	GBM-06-0877-TP	p.T483T	C	ACAACCTCACCTGGTTCCAGT	NM_001075	NP_001066	69696459	P36537	UDB10_HUMAN	0			6	1474	+	G	G			Silent	483						
UGT2B10	0	broad.mit.edu	GRCh37	4	69696492	69696492	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-26-5136-01	TCGA-26-5136-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265403.7:c.1482G>T	p.Gly494=	p.G494=	ENST00000265403	NM_001075.4	494	ggG/ggT	0			1			T	G	uc003hee.2	protein_coding	YES				1482/1587									skin(3)|ovary(2)	5	c.(1480-1482)GGG>GGT			Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF124,Transmembrane_helices:TMhelix	UDP glucuronosyltransferase 2B10 isoform 1				ENSP00000265403		6-Jun									COSM3409421,COSM3409420	6-Jun	.		ENST00000265403	Transcript			lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	ENSG00000109181	g.chr4:69696492G>T	12544			LOW								--	--	1																																		UGT2B10_uc011cam.1_Silent_p.G410G	1,1	1			p.G494G	NM_001075	NP_001066			1,1	UDB10_HUMAN	UGT2B10	HGNC	P36537	UDB10_HUMAN					6	1507	+			UPI0000137A96	494			Helical; (Potential).		SNV	UGT2B10,synonymous_variant,p.=,ENST00000265403,NM_001075.4;UGT2B10,synonymous_variant,p.=,ENST00000458688,NM_001144767.1;RP11-468N14.3,downstream_gene_variant,,ENST00000512503,;	uc003hee.2	c.1482G>T	1509/1931	1	1			c.1482G>T						4	SNP	c.(1480-1482)GGG>GGT	3	3			skin(3)|ovary(2)	5	Broad	UDP glucuronosyltransferase 2B10 isoform 1			69696492		0.458	ENSG00000109181	16704	g.chr4:69696492G>T	lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	Melanoma(133;755 1763 25578 26334 46021)			Melanoma(133;755 1763 25578 26334 46021)			327.583253	KEEP	57	65	0.467213115	117	99	57	65	0.467213115	331.395489	117	99	0.375887	1	0	0	0	0	0	0	1	0	--	--		0	T			UGT2B10_uc011cam.1_Silent_p.G410G	185	GBM-26-5136-TP	p.G494G	G	ATGTGATTGGGTTCCTGCTGG	NM_001075	NP_001066	69696492	P36537	UDB10_HUMAN	0			6	1507	+	T	T			Silent	494			Helical; (Potential).			
UGT2B10	0	broad.mit.edu	GRCh37	4	69681966	69681966	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-27-1836-01	TCGA-27-1836-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265403.7:c.229C>A	p.Pro77Thr	p.P77T	ENST00000265403	NM_001075.4	77	Cct/Act	0			1			A	P/T	uc003hee.2	protein_coding	YES				229/1587									skin(3)|ovary(2)	5	c.(229-231)CCT>ACT			Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF124,Superfamily_domains:SSF53756	UDP glucuronosyltransferase 2B10 isoform 1				ENSP00000265403		6-Jan									COSM3409417,COSM3409416	6-Jan	.		ENST00000265403	Transcript			lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	ENSG00000109181	g.chr4:69681966C>A	12544			MODERATE		1.73	low	getma.org/?cm=msa&ty=f&p=UDB10_HUMAN&rb=23&re=525&var=P77T	NA	getma.org/?cm=var&var=hg19,4,69681966,C,A&fts=all	P77T	--	--	1																																		UGT2B10_uc011cam.1_Missense_Mutation_p.P77T	1,1	1		possibly_damaging(0.517)	p.P77T	NM_001075	NP_001066		deleterious(0.05)	1,1	UDB10_HUMAN	UGT2B10	HGNC	P36537	UDB10_HUMAN					1	254	+			UPI0000137A96	77					SNV	UGT2B10,missense_variant,p.Pro77Thr,ENST00000265403,NM_001075.4;UGT2B10,missense_variant,p.Pro77Thr,ENST00000458688,NM_001144767.1;RP11-468N14.1,downstream_gene_variant,,ENST00000507455,;	uc003hee.2	c.229C>A	256/1931	2	2			c.229C>A						4	SNP	c.(229-231)CCT>ACT	32	32			skin(3)|ovary(2)	5	Broad	UDP glucuronosyltransferase 2B10 isoform 1			69681966		0.348	ENSG00000109181	16704	g.chr4:69681966C>A	lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	Melanoma(133;755 1763 25578 26334 46021)			Melanoma(133;755 1763 25578 26334 46021)			216.558348	KEEP	38	39	0.506493506	61	68	38	39	0.506493506	219.175807	61	68	0.378109	1	0	0	0	0	1	0	0	0	--	--		0	A			UGT2B10_uc011cam.1_Missense_Mutation_p.P77T	195	GBM-27-1836-TP	p.P77T	C	TGAAGTTTATCCTACATCTTT	NM_001075	NP_001066	69681966	P36537	UDB10_HUMAN	0			1	254	+	A	A			Missense_Mutation	77						
UGT2B11	10720	broad.mit.edu	GRCh37	4	70079996	70079996	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0188-01	TCGA-06-0188-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000446444.1:c.445T>C	p.Phe149Leu	p.F149L	ENST00000446444	NM_001073.1	149	Ttt/Ctt	0			1			G	F/L	uc003heh.2	protein_coding	YES	CCDS3527.1			445/1590									ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3	c.(445-447)TTT>CTT			Gene3D:3.40.50.2000,Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF142,Superfamily_domains:SSF53756	UDP glucuronosyltransferase 2 family,				ENSP00000387683		6-Jan									COSM2150565	6-Jan	.		ENST00000446444	Transcript			estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	ENSG00000213759	g.chr4:70079996A>G	12545			MODERATE		-1.04	neutral	getma.org/?cm=msa&ty=f&p=UDB11_HUMAN&rb=24&re=526&var=F149L	getma.org/pdb.php?prot=UDB11_HUMAN&from=24&to=526&var=F149L	getma.org/?cm=var&var=hg19,4,70079996,A,G&fts=all	F149L	--	--	1																																		uc003hei.1_Intron	1	1		benign(0.008)	p.F149L	NM_001073	NP_001064		tolerated(1)	1	UDB11_HUMAN	UGT2B11	HGNC	O75310	UDB11_HUMAN			Q4W5B9_HUMAN		1	454	-			UPI0000137A97	149					SNV	UGT2B11,missense_variant,p.Phe149Leu,ENST00000446444,NM_001073.1;RP11-704M14.1,intron_variant,,ENST00000505646,;RP11-704M14.1,intron_variant,,ENST00000504301,;RP11-704M14.2,downstream_gene_variant,,ENST00000514003,;	uc003heh.2	c.445T>C	454/2088	3	3			c.445T>C						4	SNP	c.(445-447)TTT>CTT	1	1			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3	Broad	UDP glucuronosyltransferase 2 family,			70079996		0.383	ENSG00000213759	16705	g.chr4:70079996A>G	estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity							273.439442	KEEP	45	40	-1	46	55	45	40	-1	273.908701	46	55	0.443114	1	0	0	0	0	1	0	0	0	--	--		0	G			uc003hei.1_Intron	41	GBM-06-0188-TP	p.F149L	A	GCATCTGCAAAAACGATGTCA	NM_001073	NP_001064	70079996	O75310	UDB11_HUMAN	0			1	454	-	G	G			Missense_Mutation	149						
UGT2B15	0	broad.mit.edu	GRCh37	4	69536075	69536075	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-28-5214-01	TCGA-28-5214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338206.5:c.262G>T	p.Asp88Tyr	p.D88Y	ENST00000338206	NM_001076.3	88	Gat/Tat	0			1			A	D/Y	uc011cal.1	protein_coding	YES	CCDS3524.1			262/1593										0	c.(262-264)GAT>TAT			Superfamily_domains:SSF53756,Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF178	UDP glycosyltransferase 2B15 precursor				ENSP00000341045		6-Jan									COSM3409415	6-Jan	.		ENST00000338206	Transcript			steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	ENSG00000196620	g.chr4:69536075C>A	12546			MODERATE		1.395	low	getma.org/?cm=msa&ty=f&p=UDB15_HUMAN&rb=24&re=527&var=D88Y	NA	getma.org/?cm=var&var=hg19,4,69536075,C,A&fts=all	D88Y	--	--	1																																			1	1		benign(0.021)	p.D88Y	NM_001076	NP_001067		tolerated(0.13)	1	UDB15_HUMAN	UGT2B15	HGNC	P54855	UDB15_HUMAN					1	300	-			UPI000045721A	88					SNV	UGT2B15,missense_variant,p.Asp88Tyr,ENST00000338206,NM_001076.3;	uc011cal.1	c.262G>T	272/2077	1	1			c.262G>T						4	SNP	c.(262-264)GAT>TAT	60	60				0	Broad	UDP glycosyltransferase 2B15 precursor			69536075		0.294	ENSG00000196620	16706	g.chr4:69536075C>A	steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity							294.913443	KEEP	59	53	0.473214286	100	80	59	53	0.473214286	298.037308	100	80	0.387097	1	0	0	0	0	1	0	0	0	--	--		0	A				221	GBM-28-5214-TP	p.D88Y	C	AGAAGAGAATCTTCCAAATAA	NM_001076	NP_001067	69536075	P54855	UDB15_HUMAN	0			1	300	-	A	A			Missense_Mutation	88						
UGT2B28	54490	broad.mit.edu	GRCh37	4	70156391	70156391	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-02-0003-01	TCGA-02-0003-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335568.5:c.1172T>C	p.Val391Ala	p.V391A	ENST00000335568	NM_053039.1	391	gTa/gCa	0		C:0	1	C:0		C	V/A	uc003hej.2	protein_coding	YES	CCDS3528.1			1172/1590									skin(1)	1	c.(1171-1173)GTA>GCA			Gene3D:3.40.50.2000,Pfam_domain:PF00201,PROSITE_patterns:PS00375,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF142,Superfamily_domains:SSF53756	UDP glucuronosyltransferase 2 family,	Flunitrazepam(DB01544)	C:0		ENSP00000334276	C:0.001	6-May	3.39E-05					6.19E-05			rs569133364,COSM3409430	6-May	.		ENST00000335568	Transcript		C:0.0002	xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	ENSG00000135226	g.chr4:70156391T>C	13479			MODERATE		3.62	high	getma.org/?cm=msa&ty=f&p=UDB28_HUMAN&rb=24&re=526&var=V391A	getma.org/pdb.php?prot=UDB28_HUMAN&from=24&to=526&var=V391A	getma.org/?cm=var&var=hg19,4,70156391,T,C&fts=all	V391A	--	--	1																																		UGT2B28_uc010ihr.2_Intron	0,1	1		probably_damaging(0.977)	p.V391A	NM_053039	NP_444267	C:0	deleterious(0)	0,1	UDB28_HUMAN	UGT2B28	HGNC	Q9BY64	UDB28_HUMAN					5	1174	+			UPI0000137A9F	391					SNV	UGT2B28,missense_variant,p.Val391Ala,ENST00000335568,NM_053039.1;UGT2B28,intron_variant,,ENST00000511240,NM_001207004.1;	uc003hej.2	c.1172T>C	1174/1833	3	3			c.1172T>C						4	SNP	c.(1171-1173)GTA>GCA	5	5			skin(1)	1	Broad	UDP glucuronosyltransferase 2 family,		Flunitrazepam(DB01544)	70156391		0.448	ENSG00000135226	16708	g.chr4:70156391T>C	xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity							38.12236	KEEP	28	46	-1	202	210	28	46	-1	104.398331	202	210	0.092965	1	0	0	0	0	1	0	0	0	--	--		0	C			UGT2B28_uc010ihr.2_Intron	1	GBM-02-0003-TP	p.V391A	T	ATCCCTATGGTAGGCATTCCA	NM_053039	NP_444267	70156391	Q9BY64	UDB28_HUMAN	0			5	1174	+	C	C			Missense_Mutation	391						
UGT2B28	54490	broad.mit.edu	GRCh37	4	70148376	70148376	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0126-01	TCGA-06-0126-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335568.5:c.866C>A	p.Pro289His	p.P289H	ENST00000335568	NM_053039.1	289	cCt/cAt	0			1			A	P/H	uc003hej.2	protein_coding	YES	CCDS3528.1			866/1590									skin(1)	1	c.(865-867)CCT>CAT			Gene3D:3.40.50.2000,Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF142,Superfamily_domains:SSF53756	UDP glucuronosyltransferase 2 family,	Flunitrazepam(DB01544)			ENSP00000334276		6-Feb									COSM2149422	6-Feb	.		ENST00000335568	Transcript			xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	ENSG00000135226	g.chr4:70148376C>A	13479			MODERATE		4.055	high	getma.org/?cm=msa&ty=f&p=UDB28_HUMAN&rb=24&re=526&var=P289H	getma.org/pdb.php?prot=UDB28_HUMAN&from=24&to=526&var=P289H	getma.org/?cm=var&var=hg19,4,70148376,C,A&fts=all	P289H	--	--	1																																		UGT2B28_uc010ihr.2_Missense_Mutation_p.P289H	1	1		benign(0.138)	p.P289H	NM_053039	NP_444267		deleterious(0.02)	1	UDB28_HUMAN	UGT2B28	HGNC	Q9BY64	UDB28_HUMAN					2	868	+			UPI0000137A9F	289					SNV	UGT2B28,missense_variant,p.Pro289His,ENST00000335568,NM_053039.1;UGT2B28,missense_variant,p.Pro289His,ENST00000511240,NM_001207004.1;	uc003hej.2	c.866C>A	868/1833	2	2			c.866C>A						4	SNP	c.(865-867)CCT>CAT	29	29			skin(1)	1	Broad	UDP glucuronosyltransferase 2 family,		Flunitrazepam(DB01544)	70148376		0.383	ENSG00000135226	16708	g.chr4:70148376C>A	xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity							282.085995	KEEP	64	63	0.496062992	112	88	64	63	0.496062992	284.995275	112	88	0.383673	1	0	0	0	0	1	0	0	0	--	--		0	A			UGT2B28_uc010ihr.2_Missense_Mutation_p.P289H	13	GBM-06-0126-TP	p.P289H	C	AAACCCCTACCTAAGGTAAAC	NM_053039	NP_444267	70148376	Q9BY64	UDB28_HUMAN	0			2	868	+	A	A			Missense_Mutation	289						
UGT2B28	54490	broad.mit.edu	GRCh37	4	70156481	70156481	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01	TCGA-06-0188-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335568.5:c.1262C>T	p.Ser421Leu	p.S421L	ENST00000335568	NM_053039.1	421	tCg/tTg	0	T:0.0002	T:0	1	T:0		T	S/L	uc003hej.2	protein_coding	YES	CCDS3528.1			1262/1590									skin(1)	1	c.(1261-1263)TCG>TTG			Gene3D:3.40.50.2000,Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF142,Superfamily_domains:SSF53756	UDP glucuronosyltransferase 2 family,	Flunitrazepam(DB01544)	T:0.001	T:0	ENSP00000334276	T:0	6-May	2.54E-05	0.000105		0.000119		1.54E-05			rs371664274,COSM734896	6-May	.		ENST00000335568	Transcript		T:0.0002	xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	ENSG00000135226	g.chr4:70156481C>T	13479			MODERATE		3.385	medium	getma.org/?cm=msa&ty=f&p=UDB28_HUMAN&rb=24&re=526&var=S421L	getma.org/pdb.php?prot=UDB28_HUMAN&from=24&to=526&var=S421L	getma.org/?cm=var&var=hg19,4,70156481,C,T&fts=all	S421L	--	--	1																																		UGT2B28_uc010ihr.2_Intron	0,1	1		probably_damaging(0.929)	p.S421L	NM_053039	NP_444267	T:0	deleterious(0)	0,1	UDB28_HUMAN	UGT2B28	HGNC	Q9BY64	UDB28_HUMAN					5	1264	+			UPI0000137A9F	421					SNV	UGT2B28,missense_variant,p.Ser421Leu,ENST00000335568,NM_053039.1;UGT2B28,intron_variant,,ENST00000511240,NM_001207004.1;	uc003hej.2	c.1262C>T	1264/1833	2	2			c.1262C>T						4	SNP	c.(1261-1263)TCG>TTG	34	34			skin(1)	1	Broad	UDP glucuronosyltransferase 2 family,		Flunitrazepam(DB01544)	70156481		0.423	ENSG00000135226	16708	g.chr4:70156481C>T	xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity							240.990932	KEEP	56	57	-1	116	107	56	57	-1	244.320821	116	107	0.369369	1	0	0	0	0	1	0	0	0	--	--		0	T			UGT2B28_uc010ihr.2_Intron	41	GBM-06-0188-TP	p.S421L	C	CACACAATGTCGAGTACAGAC	NM_053039	NP_444267	70156481	Q9BY64	UDB28_HUMAN	0			5	1264	+	T	T			Missense_Mutation	421						
UGT2B28	0	broad.mit.edu	GRCh37	4	70148376	70148376	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-27-1837-01	TCGA-27-1837-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335568.5:c.866C>A	p.Pro289His	p.P289H	ENST00000335568	NM_053039.1	289	cCt/cAt	0			1			A	P/H	uc003hej.2	protein_coding	YES	CCDS3528.1			866/1590									skin(1)	1	c.(865-867)CCT>CAT			Gene3D:3.40.50.2000,Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF142,Superfamily_domains:SSF53756	UDP glucuronosyltransferase 2 family,	Flunitrazepam(DB01544)			ENSP00000334276		6-Feb									COSM2149422	6-Feb	.		ENST00000335568	Transcript			xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	ENSG00000135226	g.chr4:70148376C>A	13479			MODERATE		4.055	high	getma.org/?cm=msa&ty=f&p=UDB28_HUMAN&rb=24&re=526&var=P289H	getma.org/pdb.php?prot=UDB28_HUMAN&from=24&to=526&var=P289H	getma.org/?cm=var&var=hg19,4,70148376,C,A&fts=all	P289H	--	--	1																																		UGT2B28_uc010ihr.2_Missense_Mutation_p.P289H	1	1		benign(0.138)	p.P289H	NM_053039	NP_444267		deleterious(0.02)	1	UDB28_HUMAN	UGT2B28	HGNC	Q9BY64	UDB28_HUMAN					2	868	+			UPI0000137A9F	289					SNV	UGT2B28,missense_variant,p.Pro289His,ENST00000335568,NM_053039.1;UGT2B28,missense_variant,p.Pro289His,ENST00000511240,NM_001207004.1;	uc003hej.2	c.866C>A	868/1833	2	2			c.866C>A						4	SNP	c.(865-867)CCT>CAT	29	29			skin(1)	1	Broad	UDP glucuronosyltransferase 2 family,		Flunitrazepam(DB01544)	70148376		0.383	ENSG00000135226	16708	g.chr4:70148376C>A	xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity							182.921019	KEEP	39	46	0.541176471	75	71	39	46	0.541176471	184.555402	75	71	0.396552	1	0	0	0	0	1	0	0	0	--	--		0	A			UGT2B28_uc010ihr.2_Missense_Mutation_p.P289H	196	GBM-27-1837-TP	p.P289H	C	AAACCCCTACCTAAGGTAAAC	NM_053039	NP_444267	70148376	Q9BY64	UDB28_HUMAN	0			2	868	+	A	A			Missense_Mutation	289						
UGT2B28	0	broad.mit.edu	GRCh37	4	70160416	70160416	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-32-1977-01	TCGA-32-1977-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335568.5:c.1479G>T	p.Val493=	p.V493=	ENST00000335568	NM_053039.1	493	gtG/gtT	0			1			T	V	uc003hej.2	protein_coding	YES	CCDS3528.1			1479/1590									skin(1)	1	c.(1477-1479)GTG>GTT			Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF142	UDP glucuronosyltransferase 2 family,	Flunitrazepam(DB01544)			ENSP00000334276		6-Jun	8.50E-06			0.000119					rs775380271,COSM3409431	6-Jun	.		ENST00000335568	Transcript			xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	ENSG00000135226	g.chr4:70160416G>T	13479			LOW								--	--	1																																		UGT2B28_uc010ihr.2_3'UTR	0,1	1			p.V493V	NM_053039	NP_444267			0,1	UDB28_HUMAN	UGT2B28	HGNC	Q9BY64	UDB28_HUMAN					6	1481	+			UPI0000137A9F	493					SNV	UGT2B28,synonymous_variant,p.=,ENST00000335568,NM_053039.1;UGT2B28,3_prime_UTR_variant,,ENST00000511240,NM_001207004.1;	uc003hej.2	c.1479G>T	1481/1833	2	2			c.1479G>T						4	SNP	c.(1477-1479)GTG>GTT	35	35			skin(1)	1	Broad	UDP glucuronosyltransferase 2 family,		Flunitrazepam(DB01544)	70160416		0.463	ENSG00000135226	16708	g.chr4:70160416G>T	xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity							61.95139	KEEP	23	14	0.621621622	74	108	23	14	0.621621622	78.91238	74	108	0.183333	1	0	0	0	0	0	0	1	0	--	--		0	T			UGT2B28_uc010ihr.2_3'UTR	229	GBM-32-1977-TP	p.V493V	G	CTTTGGATGTGATTGGGTTTC	NM_053039	NP_444267	70160416	Q9BY64	UDB28_HUMAN	0			6	1481	+	T	T			Silent	493						
UGT2B28	0	broad.mit.edu	GRCh37	4	70160487	70160487	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335568.5:c.1550G>A	p.Trp517Ter	p.W517*	ENST00000335568	NM_053039.1	517	tGg/tAg	0			1			A	W/*	uc003hej.2	protein_coding	YES	CCDS3528.1			1550/1590									skin(1)	1	c.(1549-1551)TGG>TAG			Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF142,Transmembrane_helices:TMhelix	UDP glucuronosyltransferase 2 family,	Flunitrazepam(DB01544)			ENSP00000334276		6-Jun									COSM3409432	6-Jun	.		ENST00000335568	Transcript			xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	ENSG00000135226	g.chr4:70160487G>A	13479			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,4,70160487,G,A&fts=all	W517*	--	--	1																																		UGT2B28_uc010ihr.2_3'UTR	1	1			p.W517*	NM_053039	NP_444267			1	UDB28_HUMAN	UGT2B28	HGNC	Q9BY64	UDB28_HUMAN					6	1552	+			UPI0000137A9F	517			Helical; (Potential).		SNV	UGT2B28,stop_gained,p.Trp517Ter,ENST00000335568,NM_053039.1;UGT2B28,3_prime_UTR_variant,,ENST00000511240,NM_001207004.1;	uc003hej.2	c.1550G>A	1552/1833	5	1			c.1550G>A						4	SNP	c.(1549-1551)TGG>TAG	60	60			skin(1)	1	Broad	UDP glucuronosyltransferase 2 family,		Flunitrazepam(DB01544)	70160487		0.413	ENSG00000135226	16708	g.chr4:70160487G>A	xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity							21.320502	KEEP	6	1	-1	8	4	6	1	-1	21.515355	8	4	0.388889	1	0	0	0	0	0	1	0	0	--	--		0	A			UGT2B28_uc010ihr.2_3'UTR	230	GBM-32-1979-TP	p.W517*	G	TTTTGTTTCTGGAAGTTTGCT	NM_053039	NP_444267	70160487	Q9BY64	UDB28_HUMAN	0			6	1552	+	A	A			Nonsense_Mutation	517			Helical; (Potential).			
UGT2B4	7363	broad.mit.edu	GRCh37	4	70361103	70361103	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-06-0157-01	TCGA-06-0157-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305107.6:c.477G>C	p.Leu159=	p.L159=	ENST00000305107	NM_021139.2	159	ctG/ctC	0			1			G	L	uc003hek.3	protein_coding	YES	CCDS43234.1			477/1587									skin(2)	2	c.(475-477)CTG>CTC			Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF123,Superfamily_domains:SSF53756	UDP glucuronosyltransferase 2B4 precursor				ENSP00000305221		6-Jan	8.24E-06					1.50E-05			rs745701769,COSM2150043	6-Jan	.		ENST00000305107	Transcript			estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	ENSG00000156096	g.chr4:70361103C>G	12553			LOW								--	--	1																																		UGT2B4_uc011cap.1_Silent_p.L23L|UGT2B4_uc003hel.3_Silent_p.L159L	0,1	1			p.L159L	NM_021139	NP_066962			0,1	UD2B4_HUMAN	UGT2B4	HGNC	P06133	UD2B4_HUMAN			D6RGY0_HUMAN		1	524	-			UPI000000087F	159					SNV	UGT2B4,synonymous_variant,p.=,ENST00000305107,NM_021139.2;UGT2B4,synonymous_variant,p.=,ENST00000381096,;UGT2B4,synonymous_variant,p.=,ENST00000512583,;UGT2B4,downstream_gene_variant,,ENST00000510114,;UGT2B4,splice_region_variant,,ENST00000506580,;UGT2B4,non_coding_transcript_exon_variant,,ENST00000502655,;UGT2B4,intron_variant,,ENST00000503836,;	uc003hek.3	c.477G>C	524/2103	3	3			c.477G>C						4	SNP	c.(475-477)CTG>CTC	57	57			skin(2)	2	Broad	UDP glucuronosyltransferase 2B4 precursor			70361103		0.428	ENSG00000156096	16709	g.chr4:70361103C>G	estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity							69.88566	KEEP	11	10	-1	13	24	11	10	-1	70.785323	13	24	0.363636	1	0	0	0	0	0	0	1	0	--	--		0	G			UGT2B4_uc011cap.1_Silent_p.L23L|UGT2B4_uc003hel.3_Silent_p.L159L	28	GBM-06-0157-TP	p.L159L	C	ACTCGGCCAGCAGCTCACCAA	NM_021139	NP_066962	70361103	P06133	UD2B4_HUMAN	0			1	524	-	G	G			Silent	159						
UGT2B4	7363	broad.mit.edu	GRCh37	4	70361046	70361046	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0211-01	TCGA-06-0211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305107.6:c.534C>T	p.Tyr178=	p.Y178=	ENST00000305107	NM_021139.2	178	taC/taT	0	A:0.0002		1			A	Y	uc003hek.3	protein_coding	YES	CCDS43234.1			534/1587									skin(2)	2	c.(532-534)TAC>TAT			Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF123,Superfamily_domains:SSF53756	UDP glucuronosyltransferase 2B4 precursor			A:0	ENSP00000305221		6-Jan	5.77E-05		8.70E-05			9.02E-05			rs370531105,COSM1430705	6-Jan	.		ENST00000305107	Transcript			estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	ENSG00000156096	g.chr4:70361046G>A	12553			LOW								--	--	1																																		UGT2B4_uc011cap.1_Silent_p.Y42Y|UGT2B4_uc003hel.3_Silent_p.Y178Y	0,1	1			p.Y178Y	NM_021139	NP_066962			0,1	UD2B4_HUMAN	UGT2B4	HGNC	P06133	UD2B4_HUMAN			D6RGY0_HUMAN		1	581	-			UPI000000087F	178					SNV	UGT2B4,synonymous_variant,p.=,ENST00000305107,NM_021139.2;UGT2B4,synonymous_variant,p.=,ENST00000381096,;UGT2B4,synonymous_variant,p.=,ENST00000512583,;UGT2B4,downstream_gene_variant,,ENST00000510114,;UGT2B4,non_coding_transcript_exon_variant,,ENST00000502655,;UGT2B4,intron_variant,,ENST00000506580,;UGT2B4,intron_variant,,ENST00000503836,;	uc003hek.3	c.534C>T	581/2103	2	2			c.534C>T						4	SNP	c.(532-534)TAC>TAT	29	29			skin(2)	2	Broad	UDP glucuronosyltransferase 2B4 precursor			70361046		0.453	ENSG00000156096	16709	g.chr4:70361046G>A	estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity							155.056867	KEEP	29	30	-1	34	38	29	30	-1	155.366501	34	38	0.445378	1	0	0	0	0	0	0	1	0	--	--		0	A			UGT2B4_uc011cap.1_Silent_p.Y42Y|UGT2B4_uc003hel.3_Silent_p.Y178Y	48	GBM-06-0211-TP	p.Y178Y	G	TTTCAATTGCGTAGCCAGGAG	NM_021139	NP_066962	70361046	P06133	UD2B4_HUMAN	0			1	581	-	A	A			Silent	178						
UGT2B4	0	broad.mit.edu	GRCh37	4	70361563	70361563	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01	TCGA-19-2623-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305107.6:c.17C>T	p.Thr6Ile	p.T6I	ENST00000305107	NM_021139.2	6	aCt/aTt	0			1			A	T/I	uc003hek.3	protein_coding	YES	CCDS43234.1			17/1587									skin(2)	2	c.(16-18)ACT>ATT			PROSITE_profiles:PS51257,Cleavage_site_(Signalp):SignalP-noTM	UDP glucuronosyltransferase 2B4 precursor				ENSP00000305221		6-Jan									COSM3409435	6-Jan	.		ENST00000305107	Transcript			estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	ENSG00000156096	g.chr4:70361563G>A	12553			MODERATE		-0.09	neutral	getma.org/?cm=msa&ty=f&p=UD2B4_HUMAN&rb=1&re=53&var=T6I	NA	getma.org/?cm=var&var=hg19,4,70361563,G,A&fts=all	T6I	--	--	1																																		UGT2B4_uc011cap.1_Intron|UGT2B4_uc003hel.3_Missense_Mutation_p.T6I	1	1		benign(0.001)	p.T6I	NM_021139	NP_066962		tolerated(1)	1	UD2B4_HUMAN	UGT2B4	HGNC	P06133	UD2B4_HUMAN			D6RGY0_HUMAN		1	64	-			UPI000000087F	6					SNV	UGT2B4,missense_variant,p.Thr6Ile,ENST00000305107,NM_021139.2;UGT2B4,missense_variant,p.Thr6Ile,ENST00000512583,;UGT2B4,missense_variant,p.Thr6Ile,ENST00000510114,;UGT2B4,intron_variant,,ENST00000381096,;UGT2B4,non_coding_transcript_exon_variant,,ENST00000506580,;UGT2B4,intron_variant,,ENST00000502655,;UGT2B4,intron_variant,,ENST00000503836,;	uc003hek.3	c.17C>T	64/2103	1	1			c.17C>T						4	SNP	c.(16-18)ACT>ATT	64	64			skin(2)	2	Broad	UDP glucuronosyltransferase 2B4 precursor			70361563		0.443	ENSG00000156096	16709	g.chr4:70361563G>A	estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity							295.226693	KEEP	57	54	-1	111	130	57	54	-1	305.252022	111	130	0.313846	1	0	0	0	0	1	0	0	0	--	--		0	A			UGT2B4_uc011cap.1_Intron|UGT2B4_uc003hel.3_Missense_Mutation_p.T6I	163	GBM-19-2623-TP	p.T6I	G	AAGAGCTGAAGTCCATTTCAT	NM_021139	NP_066962	70361563	P06133	UD2B4_HUMAN	0			1	64	-	A	A			Missense_Mutation	6						
UGT2B4	7363		GRCh37	4	70346533	70346533	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000305107.6:c.1406G>A	p.Arg469His	p.R469H	ENST00000305107	NM_021139.2	469	cGc/cAc	0																																																																																																																																																																																																																																												
UGT2B7	7364	broad.mit.edu	GRCh37	4	69962448	69962448	+	synonymous_variant	Silent	SNP	C	C	T	rs151180306		TCGA-06-0154-01	TCGA-06-0154-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305231.7:c.210C>T	p.Ser70=	p.S70=	ENST00000305231	NM_001074.2	70	tcC/tcT	0	T:0.0009		1			T	S	uc003heg.3	protein_coding	YES	CCDS3526.1			210/1590									ovary(1)|skin(1)	2	c.(208-210)TCC>TCT			Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF123,Superfamily_domains:SSF53756	UDP glucuronosyltransferase 2B7 precursor			T:0	ENSP00000304811		6-Jan	0.000132	0.000393				0.000135		0.000182	rs151180306,COSM2149944	6-Jan	.		ENST00000305231	Transcript			lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	ENSG00000171234	g.chr4:69962448C>T	12554			LOW								--	--	1																																		UGT2B7_uc010ihq.2_Silent_p.S70S	0,1	1			p.S70S	NM_001074	NP_001065			0,1	UD2B7_HUMAN	UGT2B7	HGNC	P16662	UD2B7_HUMAN			Q9HCT7_HUMAN,Q5QKR3_HUMAN,D6RH08_HUMAN		1	256	+			UPI00000015EC	70					SNV	UGT2B7,synonymous_variant,p.=,ENST00000305231,NM_001074.2;UGT2B7,synonymous_variant,p.=,ENST00000508661,;UGT2B7,intron_variant,,ENST00000502942,;UGT2B7,intron_variant,,ENST00000509763,;	uc003heg.3	c.210C>T	256/1887	2	2			c.210C>T						4	SNP	c.(208-210)TCC>TCT	29	29			ovary(1)|skin(1)	2	Broad	UDP glucuronosyltransferase 2B7 precursor			69962448		0.373	ENSG00000171234	16710	g.chr4:69962448C>T	lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity							148.138495	KEEP	32	25	-1	79	63	32	25	-1	156.412418	79	63	0.278075	1	0	0	0	0	0	0	1	0	--	--		0	T			UGT2B7_uc010ihq.2_Silent_p.S70S	26	GBM-06-0154-TP	p.S70S	C	ACAACTCATCCGCTCTTAAAA	NM_001074	NP_001065	69962448	P16662	UD2B7_HUMAN	0			1	256	+	T	T			Silent	70						
UGT2B7	7364	broad.mit.edu	GRCh37	4	69962642	69962642	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-0649-01	TCGA-06-0649-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305231.7:c.404A>T	p.Lys135Ile	p.K135I	ENST00000305231	NM_001074.2	135	aAa/aTa	0			1			T	K/I	uc003heg.3	protein_coding	YES	CCDS3526.1			404/1590									ovary(1)|skin(1)	2	c.(403-405)AAA>ATA			Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF123,Superfamily_domains:SSF53756	UDP glucuronosyltransferase 2B7 precursor				ENSP00000304811		6-Jan									COSM2151470	6-Jan	.		ENST00000305231	Transcript			lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	ENSG00000171234	g.chr4:69962642A>T	12554			MODERATE		3.11	medium	getma.org/?cm=msa&ty=f&p=UD2B7_HUMAN&rb=24&re=526&var=K135I	NA	getma.org/?cm=var&var=hg19,4,69962642,A,T&fts=all	K135I	--	--	1																																		UGT2B7_uc010ihq.2_Missense_Mutation_p.K135I	1	1		probably_damaging(0.913)	p.K135I	NM_001074	NP_001065		deleterious(0.03)	1	UD2B7_HUMAN	UGT2B7	HGNC	P16662	UD2B7_HUMAN			Q9HCT7_HUMAN,Q5QKR3_HUMAN,D6RH08_HUMAN		1	450	+			UPI00000015EC	135					SNV	UGT2B7,missense_variant,p.Lys135Ile,ENST00000305231,NM_001074.2;UGT2B7,missense_variant,p.Lys135Ile,ENST00000508661,;UGT2B7,intron_variant,,ENST00000502942,;UGT2B7,intron_variant,,ENST00000509763,;	uc003heg.3	c.404A>T	450/1887	1	1			c.404A>T						4	SNP	c.(403-405)AAA>ATA	13	13			ovary(1)|skin(1)	2	Broad	UDP glucuronosyltransferase 2B7 precursor			69962642		0.313	ENSG00000171234	16710	g.chr4:69962642A>T	lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity							59.988544	KEEP	23	8	-1	35	36	23	8	-1	63.577995	35	36	0.3	1	0	0	0	0	1	0	0	0	--	--		0	T			UGT2B7_uc010ihq.2_Missense_Mutation_p.K135I	62	GBM-06-0649-TP	p.K135I	A	TCAAATAAGAAATTTATGAAA	NM_001074	NP_001065	69962642	P16662	UD2B7_HUMAN	0			1	450	+	T	T			Missense_Mutation	135						
UGT2B7	7364	broad.mit.edu	GRCh37	4	69973993	69973993	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5418-01	TCGA-06-5418-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305231.7:c.1263G>A	p.Ser421=	p.S421=	ENST00000305231	NM_001074.2	421	tcG/tcA	0			1			A	S	uc003heg.3	protein_coding	YES	CCDS3526.1			1263/1590									ovary(1)|skin(1)	2	c.(1261-1263)TCG>TCA			Gene3D:3.40.50.2000,Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF123,Superfamily_domains:SSF53756	UDP glucuronosyltransferase 2B7 precursor				ENSP00000304811		6-May	1.65E-05					1.50E-05		6.06E-05	rs775763044,COSM2153360	6-May	.		ENST00000305231	Transcript			lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	ENSG00000171234	g.chr4:69973993G>A	12554			LOW								--	--	1																																		UGT2B7_uc010ihq.2_Intron	0,1	1			p.S421S	NM_001074	NP_001065			0,1	UD2B7_HUMAN	UGT2B7	HGNC	P16662	UD2B7_HUMAN			Q9HCT7_HUMAN,Q5QKR3_HUMAN,D6RH08_HUMAN		5	1309	+			UPI00000015EC	421					SNV	UGT2B7,synonymous_variant,p.=,ENST00000305231,NM_001074.2;UGT2B7,intron_variant,,ENST00000508661,;UGT2B7,downstream_gene_variant,,ENST00000502942,;UGT2B7,intron_variant,,ENST00000509763,;	uc003heg.3	c.1263G>A	1309/1887	1	1			c.1263G>A						4	SNP	c.(1261-1263)TCG>TCA	63	63			ovary(1)|skin(1)	2	Broad	UDP glucuronosyltransferase 2B7 precursor			69973993		0.423	ENSG00000171234	16710	g.chr4:69973993G>A	lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity							215.273823	KEEP	40	51	-1	97	82	40	51	-1	220.905452	97	82	0.334764	1	0	0	0	0	0	0	1	0	--	--		0	A			UGT2B7_uc010ihq.2_Intron	100	GBM-06-5418-TP	p.S421S	G	ACACAATGTCGAGTACAGACT	NM_001074	NP_001065	69973993	P16662	UD2B7_HUMAN	0			5	1309	+	A	A			Silent	421						
UGT2B7	7364		GRCh37	4	69978432	69978432	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000305231.7:c.1568C>G	p.Ala523Gly	p.A523G	ENST00000305231	NM_001074.2	523	gCa/gGa	0																																																																																																																																																																																																																																												
UGT3A1	0	broad.mit.edu	GRCh37	5	35955903	35955903	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01	TCGA-26-5135-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274278.3:c.1139G>A	p.Arg380His	p.R380H	ENST00000274278	NM_152404.3	380	cGt/cAt	0	T:0		1			T	R/H	uc003jjv.1	protein_coding	YES	CCDS3913.1			1139/1572									ovary(2)|central_nervous_system(1)	3	c.(1138-1140)CGT>CAT			Gene3D:3.40.50.2000,Pfam_domain:PF00201,PROSITE_patterns:PS00375,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF154,Superfamily_domains:SSF53756	UDP glycosyltransferase 3 family, polypeptide A1			T:0.0001	ENSP00000274278		7-Jun	4.94E-05		8.64E-05	0.000231		4.50E-05			rs375679556,COSM2157074	7-Jun	.		ENST00000274278	Transcript				integral to membrane	glucuronosyltransferase activity	ENSG00000145626	g.chr5:35955903C>T	26625			MODERATE		-1.02	neutral	getma.org/?cm=msa&ty=f&p=UD3A1_HUMAN&rb=23&re=521&var=R380H	getma.org/pdb.php?prot=UD3A1_HUMAN&from=23&to=521&var=R380H	getma.org/?cm=var&var=hg19,5,35955903,C,T&fts=all	R380H	--	--	1																																		UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.R380H|UGT3A1_uc011cor.1_Missense_Mutation_p.R346H	0,1	1		benign(0.001)	p.R380H	NM_152404	NP_689617		tolerated(0.43)	0,1	UD3A1_HUMAN	UGT3A1	HGNC	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		A8K444_HUMAN		6	1296	-	all_lung(31;0.000197)		UPI000003C38B	380			Extracellular (Potential).		SNV	UGT3A1,missense_variant,p.Arg380His,ENST00000274278,NM_152404.3;UGT3A1,missense_variant,p.Arg380His,ENST00000503189,;UGT3A1,missense_variant,p.Arg346His,ENST00000507113,;UGT3A1,downstream_gene_variant,,ENST00000333811,NM_001171873.1;UGT3A1,non_coding_transcript_exon_variant,,ENST00000513233,;UGT3A1,3_prime_UTR_variant,,ENST00000515801,;	uc003jjv.1	c.1139G>A	1497/5122	2	2			c.1139G>A						5	SNP	c.(1138-1140)CGT>CAT	42	42			ovary(2)|central_nervous_system(1)	3	Broad	UDP glycosyltransferase 3 family, polypeptide A1			35955903		0.493	ENSG00000145626	16711	g.chr5:35955903C>T		integral to membrane	glucuronosyltransferase activity							232.944401	KEEP	53	41	-1	75	79	53	41	-1	235.369726	75	79	0.387097	1	0	0	0	0	1	0	0	0	--	--		0	T			UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.R380H|UGT3A1_uc011cor.1_Missense_Mutation_p.R346H	184	GBM-26-5135-TP	p.R380H	C	CACACCATGACGGATGGCCTC	NM_152404	NP_689617	35955903	Q6NUS8	UD3A1_HUMAN	0	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		6	1296	-	T	T	all_lung(31;0.000197)		Missense_Mutation	380			Extracellular (Potential).			
UGT3A1	133688		GRCh37	5	35988627	35988627	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000274278.3:c.121C>T	p.Arg41Trp	p.R41W	ENST00000274278	NM_152404.3	41	Cgg/Tgg	0																																																																																																																																																																																																																																												
UGT3A2	167127	broad.mit.edu	GRCh37	5	36035828	36035828	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs138640717		TCGA-06-0125-01	TCGA-06-0125-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282507.3:c.1544G>A	p.Arg515His	p.R515H	ENST00000282507	NM_174914.3	515	cGt/cAt	0	T:0.0002	T:0.0008	1	T:0		T	R/H	uc003jjz.1	protein_coding	YES	CCDS3914.1			1544/1572								p.R515H(2)	ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6	c.(1543-1545)CGT>CAT			hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF121	UDP glycosyltransferase 3 family, polypeptide A2		T:0	T:0	ENSP00000282507	T:0	7-Jul	7.41E-05	0.00029				9.01E-05			rs138640717,COSM33002	7-Jul	.		ENST00000282507	Transcript		T:0.0002		integral to membrane	glucuronosyltransferase activity	ENSG00000168671	g.chr5:36035828C>T	27266			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=UD3A2_HUMAN&rb=23&re=519&var=R515H	NA	getma.org/?cm=var&var=hg19,5,36035828,C,T&fts=all	R515H	--	--	1																																		UGT3A2_uc011cos.1_Missense_Mutation_p.R481H|UGT3A2_uc011cot.1_Missense_Mutation_p.R213H	0,1	1		possibly_damaging(0.475)	p.R515H	NM_174914	NP_777574	T:0	tolerated(0.24)	0,1	UD3A2_HUMAN	UGT3A2	HGNC	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		F5H377_HUMAN,D6RDU1_HUMAN		7	1637	-	all_lung(31;0.000179)		UPI000013DCE8	515		R -> H (in a colorectal cancer sample; somatic mutation).	Cytoplasmic (Potential).		SNV	UGT3A2,missense_variant,p.Arg515His,ENST00000282507,NM_174914.3;UGT3A2,missense_variant,p.Arg481His,ENST00000513300,NM_001168316.1;UGT3A2,missense_variant,p.Arg213His,ENST00000545528,;UGT3A2,downstream_gene_variant,,ENST00000504954,;UGT3A2,3_prime_UTR_variant,,ENST00000504685,;	uc003jjz.1	c.1544G>A	1646/2355	1	1			c.1544G>A						5	SNP	c.(1543-1545)CGT>CAT	7	7		p.R515H(2)	ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6	Broad	UDP glycosyltransferase 3 family, polypeptide A2			36035828		0.577	ENSG00000168671	16712	g.chr5:36035828C>T		integral to membrane	glucuronosyltransferase activity							38.336994	KEEP	8	8	-1	14	15	8	8	-1	39.49671	14	15	0.325581	1	0	0	0	0	1	0	0	0	--	--		0	T			UGT3A2_uc011cos.1_Missense_Mutation_p.R481H|UGT3A2_uc011cot.1_Missense_Mutation_p.R213H	12	GBM-06-0125-TP	p.R515H	C	TCTGGCCCCACGCAGCCACCA	NM_174914	NP_777574	36035828	Q3SY77	UD3A2_HUMAN	0	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1637	-	T	T	all_lung(31;0.000179)		Missense_Mutation	515		R -> H (in a colorectal cancer sample; somatic mutation).	Cytoplasmic (Potential).			
UGT3A2	167127	broad.mit.edu	GRCh37	5	36035966	36035966	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282507.3:c.1406C>T	p.Thr469Met	p.T469M	ENST00000282507	NM_174914.3	469	aCg/aTg	0	A:0.0005		1			A	T/M	uc003jjz.1	protein_coding	YES	CCDS3914.1			1406/1572									ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6	c.(1405-1407)ACG>ATG			hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF121,Pfam_domain:PF00201	UDP glycosyltransferase 3 family, polypeptide A2			A:0	ENSP00000282507		7-Jul	0.000115	0.000388	0.00026	0.000463		4.51E-05			rs199567567,COSM1486731	7-Jul	common_variant		ENST00000282507	Transcript				integral to membrane	glucuronosyltransferase activity	ENSG00000168671	g.chr5:36035966G>A	27266			MODERATE		1.385	low	getma.org/?cm=msa&ty=f&p=UD3A2_HUMAN&rb=23&re=519&var=T469M	NA	getma.org/?cm=var&var=hg19,5,36035966,G,A&fts=all	T469M	--	--	1																																		UGT3A2_uc011cos.1_Missense_Mutation_p.T435M|UGT3A2_uc011cot.1_Missense_Mutation_p.T167M	0,1	1		benign(0.017)	p.T469M	NM_174914	NP_777574		deleterious(0.03)	0,1	UD3A2_HUMAN	UGT3A2	HGNC	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		F5H377_HUMAN,D6RDU1_HUMAN		7	1499	-	all_lung(31;0.000179)		UPI000013DCE8	469			Extracellular (Potential).		SNV	UGT3A2,missense_variant,p.Thr469Met,ENST00000282507,NM_174914.3;UGT3A2,missense_variant,p.Thr435Met,ENST00000513300,NM_001168316.1;UGT3A2,missense_variant,p.Thr167Met,ENST00000545528,;UGT3A2,downstream_gene_variant,,ENST00000504954,;UGT3A2,3_prime_UTR_variant,,ENST00000504685,;	uc003jjz.1	c.1406C>T	1508/2355	1	1			c.1406C>T						5	SNP	c.(1405-1407)ACG>ATG	49	49			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6	Broad	UDP glycosyltransferase 3 family, polypeptide A2			36035966		0.627	ENSG00000168671	16712	g.chr5:36035966G>A		integral to membrane	glucuronosyltransferase activity							54.041198	KEEP	10	10	-1	10	19	10	10	-1	54.434663	10	19	0.4	1	0	0	0	0	1	0	0	0	--	--		0	A			UGT3A2_uc011cos.1_Missense_Mutation_p.T435M|UGT3A2_uc011cot.1_Missense_Mutation_p.T167M	18	GBM-06-0137-TP	p.T469M	G	CTTGAGGTGCGTCGCGCCCCC	NM_174914	NP_777574	36035966	Q3SY77	UD3A2_HUMAN	0	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1499	-	A	A	all_lung(31;0.000179)		Missense_Mutation	469			Extracellular (Potential).			
UGT3A2	0	broad.mit.edu	GRCh37	5	36035914	36035914	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-2528-01	TCGA-27-2528-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282507.3:c.1458C>T	p.Leu486=	p.L486=	ENST00000282507	NM_174914.3	486	ctC/ctT	0			1			A	L	uc003jjz.1	protein_coding	YES	CCDS3914.1			1458/1572									ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6	c.(1456-1458)CTC>CTT			Low_complexity_(Seg):seg,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF121,Pfam_domain:PF00201	UDP glycosyltransferase 3 family, polypeptide A2				ENSP00000282507		7-Jul	1.65E-05		8.66E-05			1.50E-05			rs762343800,COSM3410246	7-Jul	.		ENST00000282507	Transcript				integral to membrane	glucuronosyltransferase activity	ENSG00000168671	g.chr5:36035914G>A	27266			LOW								--	--	1																																		UGT3A2_uc011cos.1_Silent_p.L452L|UGT3A2_uc011cot.1_Silent_p.L184L	0,1	1			p.L486L	NM_174914	NP_777574			0,1	UD3A2_HUMAN	UGT3A2	HGNC	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		F5H377_HUMAN,D6RDU1_HUMAN		7	1551	-	all_lung(31;0.000179)		UPI000013DCE8	486	L -> F (in Ref. 1; AAQ88782).		Helical; (Potential).		SNV	UGT3A2,synonymous_variant,p.=,ENST00000282507,NM_174914.3;UGT3A2,synonymous_variant,p.=,ENST00000513300,NM_001168316.1;UGT3A2,synonymous_variant,p.=,ENST00000545528,;UGT3A2,downstream_gene_variant,,ENST00000504954,;UGT3A2,3_prime_UTR_variant,,ENST00000504685,;	uc003jjz.1	c.1458C>T	1560/2355	2	2			c.1458C>T						5	SNP	c.(1456-1458)CTC>CTT	18	18			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6	Broad	UDP glycosyltransferase 3 family, polypeptide A2			36035914		0.612	ENSG00000168671	16712	g.chr5:36035914G>A		integral to membrane	glucuronosyltransferase activity							95.949719	KEEP	14	17	-1	16	22	14	17	-1	95.980496	16	22	0.47619	1	0	0	0	0	0	0	1	0	--	--		0	A			UGT3A2_uc011cos.1_Silent_p.L452L|UGT3A2_uc011cot.1_Silent_p.L184L	205	GBM-27-2528-TP	p.L486L	G	CAAAAACGTCGAGCAGGTACT	NM_174914	NP_777574	36035914	Q3SY77	UD3A2_HUMAN	0	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1551	-	A	A	all_lung(31;0.000179)		Silent	486	L -> F (in Ref. 1; AAQ88782).		Helical; (Potential).			
UGT3A2	0	broad.mit.edu	GRCh37	5	36036029	36036029	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282507.3:c.1343C>T	p.Pro448Leu	p.P448L	ENST00000282507	NM_174914.3	448	cCg/cTg	0			1			A	P/L	uc003jjz.1	protein_coding	YES	CCDS3914.1			1343/1572									ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6	c.(1342-1344)CCG>CTG			hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF121,Pfam_domain:PF00201,Superfamily_domains:SSF53756	UDP glycosyltransferase 3 family, polypeptide A2				ENSP00000282507		7-Jul	8.24E-06					1.52E-05			rs772287712,COSM3410248	7-Jul	.		ENST00000282507	Transcript				integral to membrane	glucuronosyltransferase activity	ENSG00000168671	g.chr5:36036029G>A	27266			MODERATE		3.235	medium	getma.org/?cm=msa&ty=f&p=UD3A2_HUMAN&rb=23&re=519&var=P448L	getma.org/pdb.php?prot=UD3A2_HUMAN&from=23&to=519&var=P448L	getma.org/?cm=var&var=hg19,5,36036029,G,A&fts=all	P448L	--	--	1																																		UGT3A2_uc011cos.1_Missense_Mutation_p.P414L|UGT3A2_uc011cot.1_Missense_Mutation_p.P146L	0,1	1		probably_damaging(1)	p.P448L	NM_174914	NP_777574		deleterious(0)	0,1	UD3A2_HUMAN	UGT3A2	HGNC	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		F5H377_HUMAN,D6RDU1_HUMAN		7	1436	-	all_lung(31;0.000179)		UPI000013DCE8	448			Extracellular (Potential).		SNV	UGT3A2,missense_variant,p.Pro448Leu,ENST00000282507,NM_174914.3;UGT3A2,missense_variant,p.Pro414Leu,ENST00000513300,NM_001168316.1;UGT3A2,missense_variant,p.Pro146Leu,ENST00000545528,;UGT3A2,downstream_gene_variant,,ENST00000504954,;UGT3A2,3_prime_UTR_variant,,ENST00000504685,;	uc003jjz.1	c.1343C>T	1445/2355	2	2			c.1343C>T						5	SNP	c.(1342-1344)CCG>CTG	17	17			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6	Broad	UDP glycosyltransferase 3 family, polypeptide A2			36036029		0.597	ENSG00000168671	16712	g.chr5:36036029G>A		integral to membrane	glucuronosyltransferase activity							17.578337	KEEP	11	2	-1	21	17	11	2	-1	20.926116	21	17	0.2	1	0	0	0	0	1	0	0	0	--	--		0	A			UGT3A2_uc011cos.1_Missense_Mutation_p.P414L|UGT3A2_uc011cot.1_Missense_Mutation_p.P146L	230	GBM-32-1979-TP	p.P448L	G	GGGGCTGAGCGGGTGGGAGCG	NM_174914	NP_777574	36036029	Q3SY77	UD3A2_HUMAN	0	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1436	-	A	A	all_lung(31;0.000179)		Missense_Mutation	448			Extracellular (Potential).			
UGT8	0	broad.mit.edu	GRCh37	4	115544445	115544445	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-6700-01	TCGA-06-6700-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310836.6:c.409G>C	p.Val137Leu	p.V137L	ENST00000310836	NM_001128174.1	137	Gtg/Ctg	0			1			C	V/L	uc003ibs.2	protein_coding	YES	CCDS3705.1			409/1626									ovary(1)|skin(1)	2	c.(409-411)GTG>CTG			Gene3D:3.40.50.2000,Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF169,Superfamily_domains:SSF53756	UDP-galactose-ceramide galactosyltransferase 8				ENSP00000311648		6-Feb									COSM3409014	6-Feb	.		ENST00000310836	Transcript			central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	ENSG00000174607	g.chr4:115544445G>C	12555			MODERATE		0.715	neutral	getma.org/?cm=msa&ty=f&p=CGT_HUMAN&rb=21&re=510&var=V137L	NA	getma.org/?cm=var&var=hg19,4,115544445,G,C&fts=all	V137L	--	--	1																																		UGT8_uc003ibt.2_Missense_Mutation_p.V137L|UGT8_uc011cge.1_RNA	1	1		probably_damaging(0.936)	p.V137L	NM_001128174	NP_001121646		deleterious(0.03)	1	CGT_HUMAN	UGT8	HGNC	Q16880	CGT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000632)	D6RFW2_HUMAN		2	931	+		Ovarian(17;0.156)	UPI000013F094	137					SNV	UGT8,missense_variant,p.Val137Leu,ENST00000310836,NM_001128174.1;UGT8,missense_variant,p.Val137Leu,ENST00000394511,NM_003360.3;UGT8,missense_variant,p.Val137Leu,ENST00000507710,;	uc003ibs.2	c.409G>C	931/4084	3	3			c.409G>C						4	SNP	c.(409-411)GTG>CTG	1	1			ovary(1)|skin(1)	2	Broad	UDP-galactose-ceramide galactosyltransferase 8			115544445		0.438	ENSG00000174607	16713	g.chr4:115544445G>C	central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity							69.943562	KEEP	12	14	-1	41	56	12	14	-1	77.417001	41	56	0.224299	1	0	0	0	0	1	0	0	0	--	--		0	C			UGT8_uc003ibt.2_Missense_Mutation_p.V137L|UGT8_uc011cge.1_RNA	114	GBM-06-6700-TP	p.V137L	G	CCTGCTGCTGGTGGACCCTAA	NM_001128174	NP_001121646	115544445	Q16880	CGT_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;0.000632)	2	931	+	C	C		Ovarian(17;0.156)	Missense_Mutation	137						
UHMK1	0	broad.mit.edu	GRCh37	1	162492275	162492275	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-26-6174-01	TCGA-26-6174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000489294.1:c.1195G>C	p.Val399Leu	p.V399L	ENST00000489294	NM_175866.4	399	Gtt/Ctt	0			1			C	V/L	uc001gcc.1	protein_coding	YES	CCDS1239.1			1195/1260										0	c.(1195-1197)GTT>CTT			Gene3D:3.30.70.330,Pfam_domain:PF13893,PROSITE_profiles:PS50102,hmmpanther:PTHR23139,hmmpanther:PTHR23139:SF14,SMART_domains:SM00360,Superfamily_domains:SSF54928	kinase interacting stathmin				ENSP00000420270		8-Aug									COSM3399931	8-Aug	.		ENST00000489294	Transcript			cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding	ENSG00000152332	g.chr1:162492275G>C	19683			MODERATE		1.615	low	getma.org/?cm=msa&ty=f&p=UHMK1_HUMAN&rb=347&re=404&var=V399L	getma.org/pdb.php?prot=UHMK1_HUMAN&from=347&to=404&var=V399L	getma.org/?cm=var&var=hg19,1,162492275,G,C&fts=all	V399L	--	--	1																																		UHMK1_uc001gcb.1_Missense_Mutation_p.V325L|UHMK1_uc009wuu.1_3'UTR|uc001gcd.2_5'Flank	1	1		probably_damaging(0.997)	p.V399L	NM_175866	NP_787062		deleterious(0)	1	UHMK1_HUMAN	UHMK1	HGNC	Q8TAS1	UHMK1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)				8	1331	+	all_hematologic(112;0.115)		UPI000000DCCA	399			RRM.		SNV	UHMK1,missense_variant,p.Val399Leu,ENST00000489294,NM_175866.4;UHMK1,missense_variant,p.Val325Leu,ENST00000545294,NM_001184763.1;UHMK1,3_prime_UTR_variant,,ENST00000538489,NM_144624.2;UHMK1,non_coding_transcript_exon_variant,,ENST00000282169,;	uc001gcc.1	c.1195G>C	1353/8478	4	4			c.1195G>C						1	SNP	c.(1195-1197)GTT>CTT	48	48				0	Broad	kinase interacting stathmin			162492275		0.423	ENSG00000152332	16714	g.chr1:162492275G>C	cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding			266			266	52.711789	KEEP	5	14	-1	30	36	5	14	-1	57.52143	30	36	0.236842	1	0	0	0	0	1	0	0	0	--	--		0	C			UHMK1_uc001gcb.1_Missense_Mutation_p.V325L|UHMK1_uc009wuu.1_3'UTR|uc001gcd.2_5'Flank	188	GBM-26-6174-TP	p.V399L	G	TGGGAAGTTTGTTGTGGCTAC	NM_175866	NP_787062	162492275	Q8TAS1	UHMK1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(70;0.126)		8	1331	+	C	C	all_hematologic(112;0.115)		Missense_Mutation	399			RRM.			
UHRF1BP1	54887	broad.mit.edu	GRCh37	6	34838669	34838669	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000192788.5:c.3757C>T	p.His1253Tyr	p.H1253Y	ENST00000192788	NM_017754.3	1253	Cac/Tac	0			1			T	H/Y	uc003oju.3	protein_coding	YES	CCDS43455.1			3757/4323									ovary(3)	3	c.(3757-3759)CAC>TAC			hmmpanther:PTHR22774:SF14,hmmpanther:PTHR22774	ICBP90 binding protein 1				ENSP00000192788		18/21									COSM2151803	18/21	.		ENST00000192788	Transcript						ENSG00000065060	g.chr6:34838669C>T	21216			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=URFB1_HUMAN&rb=1103&re=1302&var=H1253Y	NA	getma.org/?cm=var&var=hg19,6,34838669,C,T&fts=all	H1253Y	--	--	1																																		UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	1	1		benign(0.002)	p.H1253Y	NM_017754	NP_060224		tolerated(0.21)	1	URFB1_HUMAN	UHRF1BP1	HGNC	Q6BDS2	URFB1_HUMAN					18	3991	+			UPI00001B654C	1253					SNV	UHRF1BP1,missense_variant,p.His1253Tyr,ENST00000192788,NM_017754.3;UHRF1BP1,missense_variant,p.His1253Tyr,ENST00000452449,;	uc003oju.3	c.3757C>T	3928/9570	1	1			c.3757C>T						6	SNP	c.(3757-3759)CAC>TAC	4	4			ovary(3)	3	Broad	ICBP90 binding protein 1			34838669		0.428	ENSG00000065060	16716	g.chr6:34838669C>T										118.202547	KEEP	37	19	-1	44	30	37	19	-1	118.658053	44	30	0.427083	1	0	0	0	0	1	0	0	0	--	--		0	T			UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	68	GBM-06-0747-TP	p.H1253Y	C	GAAGACTGGCCACATCAGGCC	NM_017754	NP_060224	34838669	Q6BDS2	URFB1_HUMAN	0			18	3991	+	T	T			Missense_Mutation	1253						
UHRF1BP1	54887	broad.mit.edu	GRCh37	6	34827265	34827265	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2559-01	TCGA-06-2559-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000192788.5:c.3132G>A	p.Val1044=	p.V1044=	ENST00000192788	NM_017754.3	1044	gtG/gtA	0			1			A	V	uc003oju.3	protein_coding	YES	CCDS43455.1			3132/4323									ovary(3)	3	c.(3130-3132)GTG>GTA			hmmpanther:PTHR22774:SF14,hmmpanther:PTHR22774	ICBP90 binding protein 1				ENSP00000192788		14/21									COSM2152709	14/21	.		ENST00000192788	Transcript						ENSG00000065060	g.chr6:34827265G>A	21216			LOW								--	--	1																																		UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	1	1			p.V1044V	NM_017754	NP_060224			1	URFB1_HUMAN	UHRF1BP1	HGNC	Q6BDS2	URFB1_HUMAN					14	3366	+			UPI00001B654C	1044					SNV	UHRF1BP1,synonymous_variant,p.=,ENST00000192788,NM_017754.3;UHRF1BP1,synonymous_variant,p.=,ENST00000452449,;	uc003oju.3	c.3132G>A	3303/9570	2	2			c.3132G>A						6	SNP	c.(3130-3132)GTG>GTA	41	41			ovary(3)	3	Broad	ICBP90 binding protein 1			34827265		0.517	ENSG00000065060	16716	g.chr6:34827265G>A										219.733748	KEEP	31	50	-1	61	74	31	50	-1	222.349484	61	74	0.380952	1	0	0	0	0	0	0	1	0	--	--		0	A			UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	83	GBM-06-2559-TP	p.V1044V	G	AGGAAGCTGTGTCCCTGACTA	NM_017754	NP_060224	34827265	Q6BDS2	URFB1_HUMAN	0			14	3366	+	A	A			Silent	1044						
UHRF1BP1L	23074	broad.mit.edu	GRCh37	12	100478382	100478382	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-2565-01	TCGA-06-2565-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000279907.7:c.1160G>C	p.Gly387Ala	p.G387A	ENST00000279907	NM_015054.1	387	gGa/gCa	0			1			G	G/A	uc001tgq.2	protein_coding	YES	CCDS31882.1			1160/4395									ovary(2)	2	c.(1159-1161)GGA>GCA			hmmpanther:PTHR22774:SF13,hmmpanther:PTHR22774	UHRF1 (ICBP90) binding protein 1-like isoform a				ENSP00000279907		21-Oct									COSM2152998,COSM2152997	21-Oct	.		ENST00000279907	Transcript						ENSG00000111647	g.chr12:100478382C>G	29102			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=UH1BL_HUMAN&rb=301&re=500&var=G387A	NA	getma.org/?cm=var&var=hg19,12,100478382,C,G&fts=all	G387A	--	--	1																																		UHRF1BP1L_uc001tgr.2_Missense_Mutation_p.G387A|UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.G37A	1,1	1		benign(0.146)	p.G387A	NM_015054	NP_055869		tolerated(0.71)	1,1	UH1BL_HUMAN	UHRF1BP1L	HGNC	A0JNW5	UH1BL_HUMAN			F8W665_HUMAN,F8VWX2_HUMAN		10	1389	-			UPI0000160563	387					SNV	UHRF1BP1L,missense_variant,p.Gly387Ala,ENST00000279907,NM_015054.1;UHRF1BP1L,missense_variant,p.Gly37Ala,ENST00000545232,;UHRF1BP1L,missense_variant,p.Gly387Ala,ENST00000356828,NM_001006947.1;UHRF1BP1L,missense_variant,p.Gly37Ala,ENST00000551973,;UHRF1BP1L,missense_variant,p.Gly37Ala,ENST00000551980,;UHRF1BP1L,intron_variant,,ENST00000550544,;UHRF1BP1L,intron_variant,,ENST00000548045,;	uc001tgq.2	c.1160G>C	1373/5168	3	3			c.1160G>C						12	SNP	c.(1159-1161)GGA>GCA	6	6			ovary(2)	2	Broad	UHRF1 (ICBP90) binding protein 1-like isoform a			100478382		0.353	ENSG00000111647	16717	g.chr12:100478382C>G										245.57641	KEEP	42	35	-1	63	63	42	35	-1	248.337426	63	63	0.371728	1	0	0	0	0	1	0	0	0	--	--		0	G			UHRF1BP1L_uc001tgr.2_Missense_Mutation_p.G387A|UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.G37A	88	GBM-06-2565-TP	p.G387A	C	ATTGGCCCATCCATTTTTTGT	NM_015054	NP_055869	100478382	A0JNW5	UH1BL_HUMAN	0			10	1389	-	G	G			Missense_Mutation	387						
BLTP3B	0	broad.mit.edu	GRCh37	12	100491231	100491231	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01	TCGA-12-0618-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000279907.7:c.581C>T	p.Ala194Val	p.A194V	ENST00000279907	NM_015054.1	194	gCc/gTc	0			1			A	A/V	uc001tgq.2	protein_coding	YES	CCDS31882.1			581/4395									ovary(2)	2	c.(580-582)GCC>GTC			hmmpanther:PTHR22774:SF13,hmmpanther:PTHR22774	UHRF1 (ICBP90) binding protein 1-like isoform a				ENSP00000279907		21-Jun									COSM3398237,COSM3398236	21-Jun	.		ENST00000279907	Transcript						ENSG00000111647	g.chr12:100491231G>A	29102			MODERATE		1.9	low	getma.org/?cm=msa&ty=f&p=UH1BL_HUMAN&rb=101&re=300&var=A194V	NA	getma.org/?cm=var&var=hg19,12,100491231,G,A&fts=all	A194V	--	--	1																																		UHRF1BP1L_uc001tgr.2_Missense_Mutation_p.A194V	1,1	1		probably_damaging(0.995)	p.A194V	NM_015054	NP_055869		deleterious(0)	1,1	UH1BL_HUMAN	UHRF1BP1L	HGNC	A0JNW5	UH1BL_HUMAN			F8W665_HUMAN,F8VWX2_HUMAN		6	810	-			UPI0000160563	194					SNV	UHRF1BP1L,missense_variant,p.Ala194Val,ENST00000279907,NM_015054.1;UHRF1BP1L,missense_variant,p.Ala194Val,ENST00000356828,NM_001006947.1;UHRF1BP1L,upstream_gene_variant,,ENST00000545232,;UHRF1BP1L,upstream_gene_variant,,ENST00000551973,;UHRF1BP1L,upstream_gene_variant,,ENST00000550544,;UHRF1BP1L,upstream_gene_variant,,ENST00000551980,;UHRF1BP1L,upstream_gene_variant,,ENST00000548045,;	uc001tgq.2	c.581C>T	794/5168	2	2			c.581C>T						12	SNP	c.(580-582)GCC>GTC	25	25			ovary(2)	2	Broad	UHRF1 (ICBP90) binding protein 1-like isoform a			100491231		0.353	ENSG00000111647	16717	g.chr12:100491231G>A										-25.326799	KEEP	2	3	-1	65	90	2	3	-1	8.8535	65	90	0.034483	1	0	0	0	0	1	0	0	0	--	--		0	A			UHRF1BP1L_uc001tgr.2_Missense_Mutation_p.A194V	119	GBM-12-0618-TP	p.A194V	G	ACTTTGGGTGGCATCTGCCTC	NM_015054	NP_055869	100491231	A0JNW5	UH1BL_HUMAN	0			6	810	-	A	A			Missense_Mutation	194						
BLTP3B	0	broad.mit.edu	GRCh37	12	100453163	100453163	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-14-0790-01	TCGA-14-0790-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000279907.7:c.1892A>G	p.Lys631Arg	p.K631R	ENST00000279907	NM_015054.1	631	aAa/aGa	0			1			C	K/R	uc001tgq.2	protein_coding	YES	CCDS31882.1			1892/4395									ovary(2)	2	c.(1891-1893)AAA>AGA			hmmpanther:PTHR22774:SF13,hmmpanther:PTHR22774	UHRF1 (ICBP90) binding protein 1-like isoform a				ENSP00000279907		14/21									COSM3398235	14/21	.		ENST00000279907	Transcript						ENSG00000111647	g.chr12:100453163T>C	29102			MODERATE		1.78	low	getma.org/?cm=msa&ty=f&p=UH1BL_HUMAN&rb=501&re=700&var=K631R	NA	getma.org/?cm=var&var=hg19,12,100453163,T,C&fts=all	K631R	--	--	1																																		UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.K281R	1	1		possibly_damaging(0.901)	p.K631R	NM_015054	NP_055869		tolerated(0.15)	1	UH1BL_HUMAN	UHRF1BP1L	HGNC	A0JNW5	UH1BL_HUMAN			F8W665_HUMAN,F8VWX2_HUMAN		14	2121	-			UPI0000160563	631					SNV	UHRF1BP1L,missense_variant,p.Lys631Arg,ENST00000279907,NM_015054.1;UHRF1BP1L,missense_variant,p.Lys281Arg,ENST00000545232,;	uc001tgq.2	c.1892A>G	2105/5168	4	4			c.1892A>G						12	SNP	c.(1891-1893)AAA>AGA	34	34			ovary(2)	2	Broad	UHRF1 (ICBP90) binding protein 1-like isoform a			100453163		0.353	ENSG00000111647	16717	g.chr12:100453163T>C										32.659285	KEEP	9	17	-1	118	101	9	17	-1	68.392484	118	101	0.10177	1	0	0	0	0	1	0	0	0	--	--		0	C			UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.K281R	137	GBM-14-0790-TP	p.K631R	T	ATCACAATCTTTAAAGTCTTG	NM_015054	NP_055869	100453163	A0JNW5	UH1BL_HUMAN	0			14	2121	-	C	C			Missense_Mutation	631						
BLTP3B	0	broad.mit.edu	GRCh37	12	100451481	100451482	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	-			TCGA-28-2509-01	TCGA-28-2509-01	AG	AG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000279907.7:c.3291_3292delCT	p.Val1099PhefsTer3	p.V1099Ffs*3	ENST00000279907	NM_015054.1	1097	ctCTgt/ctgt	0			1			-	LC/LX	uc001tgq.2	protein_coding	YES	CCDS31882.1			3291-3292/4395									ovary(2)	2	c.(3289-3294)CTCTGTfs			hmmpanther:PTHR22774:SF13,hmmpanther:PTHR22774	UHRF1 (ICBP90) binding protein 1-like isoform a				ENSP00000279907		15/21										15/21	.		ENST00000279907	Transcript						ENSG00000111647	g.chr12:100451481_100451482delAG	29102			HIGH								--	--	1																																		UHRF1BP1L_uc001tgp.2_Frame_Shift_Del_p.L747fs		1			p.L1097fs	NM_015054	NP_055869				UH1BL_HUMAN	UHRF1BP1L	HGNC	A0JNW5	UH1BL_HUMAN			F8W665_HUMAN,F8VWX2_HUMAN		15	3520_3521	-			UPI0000160563	1097_1098					deletion	UHRF1BP1L,frameshift_variant,p.Val1099PhefsTer3,ENST00000279907,NM_015054.1;UHRF1BP1L,frameshift_variant,p.Val749PhefsTer3,ENST00000545232,;	uc001tgq.2	c.3291_3292delCT	3504-3505/5168	5	5			c.3291_3292delCT						12	DEL	c.(3289-3294)CTCTGTfs	44	44			ovary(2)	2	Broad	UHRF1 (ICBP90) binding protein 1-like isoform a			100451482		0.332	ENSG00000111647	16717	g.chr12:100451481_100451482delAG																							0.12	1	1	0	1	0	0	0	0	0	--	--		0	-			UHRF1BP1L_uc001tgp.2_Frame_Shift_Del_p.L747fs	211	GBM-28-2509-TP	p.L1097fs	AG	TAAGAAACACAGAGAGGAGCCA	NM_015054	NP_055869	100451481	A0JNW5	UH1BL_HUMAN	0			15	3520_3521	-	-	-			Frame_Shift_Del	1097_1098						
UHRF1BP1L	23074		GRCh37	12	100433500	100433500	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000279907.7:c.4149C>T	p.Thr1383=	p.T1383=	ENST00000279907	NM_015054.1	1383	acC/acT	0																																																																																																																																																																																																																																												
UHRF2	0	broad.mit.edu	GRCh37	9	6413501	6413501	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-1753-01	TCGA-28-1753-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000276893.5:c.11A>G	p.Gln4Arg	p.Q4R	ENST00000276893	NM_152896.2	4	cAg/cGg	0			1			G	Q/R	uc003zjy.2	protein_coding	YES	CCDS6469.1			9-Nov									large_intestine(2)|ovary(1)	3	c.(10-12)CAG>CGG			PROSITE_profiles:PS50053,hmmpanther:PTHR14140,hmmpanther:PTHR14140:SF3,Gene3D:3.10.20.90,SMART_domains:SM00213,Superfamily_domains:SSF54236	ubiquitin-like with PHD and ring finger domains				ENSP00000276893		16-Jan									COSM3413686	16-Jan	.		ENST00000276893	Transcript			cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	ENSG00000147854	g.chr9:6413501A>G	12557			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=UHRF2_HUMAN&rb=1&re=78&var=Q4R	getma.org/pdb.php?prot=UHRF2_HUMAN&from=1&to=78&var=Q4R	getma.org/?cm=var&var=hg19,9,6413501,A,G&fts=all	Q4R	--	--	1																																		UHRF2_uc003zjz.2_RNA	1	1		benign(0.138)	p.Q4R	NM_152896	NP_690856		tolerated(0.07)	1	UHRF2_HUMAN	UHRF2	HGNC	Q96PU4	UHRF2_HUMAN		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)			1	351	+		Acute lymphoblastic leukemia(23;0.158)	UPI000006E524	4			Ubiquitin-like.		SNV	UHRF2,missense_variant,p.Gln4Arg,ENST00000276893,NM_152896.2;UHRF2,missense_variant,p.Gln4Arg,ENST00000381373,;RP11-307L3.4,downstream_gene_variant,,ENST00000411561,;UHRF2,non_coding_transcript_exon_variant,,ENST00000469298,;UHRF2,upstream_gene_variant,,ENST00000481049,;UHRF2,upstream_gene_variant,,ENST00000461236,;UHRF2,missense_variant,p.Gln4Arg,ENST00000468435,;	uc003zjy.2	c.11A>G	179/3452	3	3			c.11A>G						9	SNP	c.(10-12)CAG>CGG	16	16			large_intestine(2)|ovary(1)	3	Broad	ubiquitin-like with PHD and ring finger domains			6413501		0.512	ENSG00000147854	16718	g.chr9:6413501A>G	cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding							40.49451	KEEP	8	12	-1	17	38	8	12	-1	42.90057	17	38	0.277778	1	0	0	0	0	1	0	0	0	--	--		0	G			UHRF2_uc003zjz.2_RNA	207	GBM-28-1753-TP	p.Q4R	A	ATGTGGATACAGGTTCGCACC	NM_152896	NP_690856	6413501	Q96PU4	UHRF2_HUMAN	0		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)	1	351	+	G	G		Acute lymphoblastic leukemia(23;0.158)	Missense_Mutation	4			Ubiquitin-like.			
ULBP1	80329		GRCh37	6	150290460	150290460	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000229708.3:c.589T>G	p.Phe197Val	p.F197V	ENST00000229708	NM_025218.2	197	Ttt/Gtt	0																																																																																																																																																																																																																																												
ULK2	0	broad.mit.edu	GRCh37	17	19705231	19705231	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2528-01	TCGA-27-2528-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361658.2:c.1300G>A	p.Ala434Thr	p.A434T	ENST00000361658	NM_001142610.1	434	Gca/Aca	0			1			T	A/T	uc002gwm.3	protein_coding		CCDS11213.1			1300/3111									skin(2)|large_intestine(1)|stomach(1)	4	c.(1300-1302)GCA>ACA			PIRSF_domain:PIRSF000580,hmmpanther:PTHR24348,hmmpanther:PTHR24348:SF18	unc-51-like kinase 2				ENSP00000354877		16/28									COSM3402661,COSM3402662	16/28	.		ENST00000361658	Transcript			signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	ENSG00000083290	g.chr17:19705231C>T	13480			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=ULK2_HUMAN&rb=298&re=815&var=A434T	NA	getma.org/?cm=var&var=hg19,17,19705231,C,T&fts=all	A434T	--	--	1																																		ULK2_uc002gwn.2_Missense_Mutation_p.A434T	1,1			benign(0.003)	p.A434T	NM_001142610	NP_001136082		tolerated(0.46)	1,1	ULK2_HUMAN	ULK2	HGNC	Q8IYT8	ULK2_HUMAN					16	1809	-	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)		UPI000013D19B	434					SNV	ULK2,missense_variant,p.Ala434Thr,ENST00000395544,NM_014683.3;ULK2,missense_variant,p.Ala434Thr,ENST00000361658,NM_001142610.1;ULK2,non_coding_transcript_exon_variant,,ENST00000580130,;ULK2,downstream_gene_variant,,ENST00000574854,;	uc002gwm.3	c.1300G>A	1819/3908	2	2			c.1300G>A						17	SNP	c.(1300-1302)GCA>ACA	29	29			skin(2)|large_intestine(1)|stomach(1)	4	Broad	unc-51-like kinase 2			19705231		0.468	ENSG00000083290	16724	g.chr17:19705231C>T	signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			475			475	361.948056	KEEP	73	73	-1	118	133	73	73	-1	368.179562	118	133	0.361413	1	0	0	0	0	1	0	0	0	--	--		0	T			ULK2_uc002gwn.2_Missense_Mutation_p.A434T	205	GBM-27-2528-TP	p.A434T	C	CGTACCACTGCAGATCTGAAA	NM_001142610	NP_001136082	19705231	Q8IYT8	ULK2_HUMAN	0			16	1809	-	T	T	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)		Missense_Mutation	434						
ULK4	54986	broad.mit.edu	GRCh37	3	41953077	41953077	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0152-01	TCGA-06-0152-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301831.4:c.971A>C	p.Lys324Thr	p.K324T	ENST00000301831	NM_017886.2	324	aAa/aCa	0			1			G	K/T	uc003ckv.3	protein_coding	YES	CCDS43071.1			971/3828										0	c.(970-972)AAA>ACA			hmmpanther:PTHR22983,hmmpanther:PTHR22983:SF14,Gene3D:1.10.510.10	unc-51-like kinase 4				ENSP00000301831		Oct-37									COSM2149852,COSM2149851	Oct-37	.		ENST00000301831	Transcript					ATP binding|protein serine/threonine kinase activity	ENSG00000168038	g.chr3:41953077T>G	15784			MODERATE		1.4	low	getma.org/?cm=msa&ty=f&p=ULK4_HUMAN&rb=281&re=351&var=K324T	NA	getma.org/?cm=var&var=hg19,3,41953077,T,G&fts=all	K324T	--	--	1																																		ULK4_uc003ckw.2_Missense_Mutation_p.K324T|ULK4_uc003ckx.1_Missense_Mutation_p.K324T	1,1	1		benign(0.004)	p.K324T	NM_017886	NP_060356		tolerated(0.33)	1,1	ULK4_HUMAN	ULK4	HGNC	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	B3KSE5_HUMAN		10	1172	-			UPI0000E8267C	324					SNV	ULK4,missense_variant,p.Lys324Thr,ENST00000301831,NM_017886.2;ULK4,missense_variant,p.Lys324Thr,ENST00000420927,;ULK4,non_coding_transcript_exon_variant,,ENST00000481226,;ULK4,non_coding_transcript_exon_variant,,ENST00000484323,;	uc003ckv.3	c.971A>C	1434/4613	4	4			c.971A>C						3	SNP	c.(970-972)AAA>ACA	29	29				0	Broad	unc-51-like kinase 4			41953077		0.413	ENSG00000168038	16726	g.chr3:41953077T>G			ATP binding|protein serine/threonine kinase activity			538			538	119.286614	KEEP	23	18	-1	64	53	23	18	-1	126.542645	64	53	0.263889	1	0	0	0	0	1	0	0	0	--	--		0	G			ULK4_uc003ckw.2_Missense_Mutation_p.K324T|ULK4_uc003ckx.1_Missense_Mutation_p.K324T	25	GBM-06-0152-TP	p.K324T	T	CTTGTGCCCTTTTGCTTGTCT	NM_017886	NP_060356	41953077	Q96C45	ULK4_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.214)	10	1172	-	G	G			Missense_Mutation	324						
UMOD	7369	broad.mit.edu	GRCh37	16	20357449	20357449	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01	TCGA-06-0878-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000570689.1:c.1181C>T	p.Thr394Met	p.T394M	ENST00000570689		394	aCg/aTg	0		A:0	1	A:0		A	T/M	uc002dgz.2	protein_coding		CCDS10583.1			1181/1923									ovary(1)|skin(1)	2	c.(1180-1182)ACG>ATG			PROSITE_profiles:PS51034,hmmpanther:PTHR22962:SF12,hmmpanther:PTHR22962,Pfam_domain:PF00100,SMART_domains:SM00241,Prints_domain:PR00023	uromodulin precursor		A:0.001		ENSP00000306279	A:0	11-May	4.12E-05			0.00058					rs532447307,COSM271708,COSM2129634	11-May	common_variant		ENST00000302509	Transcript	1	A:0.0002	cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	ENSG00000169344	g.chr16:20357449G>A	12559			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=UROM_HUMAN&rb=334&re=585&var=T394M	NA	getma.org/?cm=var&var=hg19,16,20357449,G,A&fts=all	T394M	--	--	1																																		UMOD_uc002dha.2_Missense_Mutation_p.T394M|UMOD_uc002dhb.2_Missense_Mutation_p.T427M	0,1,1			benign(0.082)	p.T394M	NM_003361	NP_003352	A:0	tolerated(0.18)	0,1,1	UROM_HUMAN	UMOD	HGNC	P07911	UROM_HUMAN			Q8NHW8_HUMAN,I3L4Y6_HUMAN,I3L4B0_HUMAN,I3L2J2_HUMAN,I3L1M3_HUMAN,I3L1A9_HUMAN,B3KXM9_HUMAN		5	1310	-			UPI0000137E1A	394			ZP.		SNV	UMOD,missense_variant,p.Thr427Met,ENST00000396134,NM_001278614.1;UMOD,missense_variant,p.Thr443Met,ENST00000396138,NM_003361.3,NM_001008389.2;UMOD,missense_variant,p.Thr427Met,ENST00000424589,;UMOD,missense_variant,p.Thr394Met,ENST00000570689,;UMOD,missense_variant,p.Thr394Met,ENST00000396142,;UMOD,missense_variant,p.Thr394Met,ENST00000302509,;UMOD,downstream_gene_variant,,ENST00000574195,;UMOD,downstream_gene_variant,,ENST00000571174,;UMOD,downstream_gene_variant,,ENST00000577168,;UMOD,downstream_gene_variant,,ENST00000570972,;UMOD,downstream_gene_variant,,ENST00000573567,;UMOD,downstream_gene_variant,,ENST00000576546,;UMOD,downstream_gene_variant,,ENST00000570757,;UMOD,downstream_gene_variant,,ENST00000576688,;UMOD,upstream_gene_variant,,ENST00000570331,;	uc002dgz.2	c.1181C>T	1247/2251	1	1			c.1181C>T						16	SNP	c.(1180-1182)ACG>ATG	57	57			ovary(1)|skin(1)	2	Broad	uromodulin precursor			20357449		0.398	ENSG00000169344	16727	g.chr16:20357449G>A	cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding							130.344364	KEEP	27	19	-1	21	32	27	19	-1	130.405	21	32	0.47191	1	0	0	0	0	1	0	0	0	--	--		0	A			UMOD_uc002dha.2_Missense_Mutation_p.T394M|UMOD_uc002dhb.2_Missense_Mutation_p.T427M	74	GBM-06-0878-TP	p.T394M	G	AGGACGTACCGTCAACACTGT	NM_003361	NP_003352	20357449	P07911	UROM_HUMAN	0			5	1310	-	A	A			Missense_Mutation	394			ZP.			
UMOD	0	broad.mit.edu	GRCh37	16	20359594	20359594	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-2631-01	TCGA-19-2631-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302509.4:c.924G>A	p.Ser308=	p.S308=	ENST00000302509		308	tcG/tcA	0			1			T	S	uc002dgz.2	protein_coding		CCDS10583.1			924/1923									ovary(1)|skin(1)	2	c.(922-924)TCG>TCA			hmmpanther:PTHR22962:SF12,hmmpanther:PTHR22962	uromodulin precursor				ENSP00000306279		11-Apr									COSM2156431,COSM2156432	11-Apr	.		ENST00000302509	Transcript	1		cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	ENSG00000169344	g.chr16:20359594C>T	12559			LOW								--	--	1																																		UMOD_uc002dha.2_Silent_p.S308S|UMOD_uc002dhb.2_Silent_p.S341S	1,1				p.S308S	NM_003361	NP_003352			1,1	UROM_HUMAN	UMOD	HGNC	P07911	UROM_HUMAN			Q8NHW8_HUMAN,I3L4Y6_HUMAN,I3L4B0_HUMAN,I3L2J2_HUMAN,I3L1M3_HUMAN,I3L1A9_HUMAN,B3KXM9_HUMAN		4	1053	-			UPI0000137E1A	308					SNV	UMOD,synonymous_variant,p.=,ENST00000396134,NM_001278614.1;UMOD,synonymous_variant,p.=,ENST00000396138,NM_003361.3,NM_001008389.2;UMOD,synonymous_variant,p.=,ENST00000424589,;UMOD,synonymous_variant,p.=,ENST00000570689,;UMOD,synonymous_variant,p.=,ENST00000396142,;UMOD,synonymous_variant,p.=,ENST00000302509,;UMOD,downstream_gene_variant,,ENST00000574195,;UMOD,downstream_gene_variant,,ENST00000571174,;UMOD,downstream_gene_variant,,ENST00000577168,;UMOD,downstream_gene_variant,,ENST00000570972,;UMOD,downstream_gene_variant,,ENST00000573567,;UMOD,downstream_gene_variant,,ENST00000576546,;UMOD,downstream_gene_variant,,ENST00000570757,;UMOD,downstream_gene_variant,,ENST00000576688,;	uc002dgz.2	c.924G>A	990/2251	2	2			c.924G>A						16	SNP	c.(922-924)TCG>TCA	29	29			ovary(1)|skin(1)	2	Broad	uromodulin precursor			20359594		0.552	ENSG00000169344	16727	g.chr16:20359594C>T	cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding							219.495409	KEEP	42	66	-1	75	119	42	66	-1	222.876787	75	119	0.362745	1	0	0	0	0	0	0	1	0	--	--		0	T			UMOD_uc002dha.2_Silent_p.S308S|UMOD_uc002dhb.2_Silent_p.S341S	167	GBM-19-2631-TP	p.S308S	C	TGCCATTATTCGATTTGCAGT	NM_003361	NP_003352	20359594	P07911	UROM_HUMAN	0			4	1053	-	T	T			Silent	308						
UMOD	0	broad.mit.edu	GRCh37	16	20357616	20357616	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-28-5216-01	TCGA-28-5216-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302509.4:c.1014T>A	p.Asn338Lys	p.N338K	ENST00000302509		338	aaT/aaA	0			1			T	N/K	uc002dgz.2	protein_coding		CCDS10583.1			1014/1923									ovary(1)|skin(1)	2	c.(1012-1014)AAT>AAA			PROSITE_profiles:PS51034,hmmpanther:PTHR22962:SF12,hmmpanther:PTHR22962,Pfam_domain:PF00100,SMART_domains:SM00241	uromodulin precursor				ENSP00000306279		11-May									COSM3402133,COSM3402134	11-May	.		ENST00000302509	Transcript	1		cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	ENSG00000169344	g.chr16:20357616A>T	12559			MODERATE		0.935	low	getma.org/?cm=msa&ty=f&p=UROM_HUMAN&rb=334&re=585&var=N338K	NA	getma.org/?cm=var&var=hg19,16,20357616,A,T&fts=all	N338K	--	--	1																																		UMOD_uc002dha.2_Missense_Mutation_p.N338K|UMOD_uc002dhb.2_Missense_Mutation_p.N371K	1,1			possibly_damaging(0.608)	p.N338K	NM_003361	NP_003352		tolerated(0.32)	1,1	UROM_HUMAN	UMOD	HGNC	P07911	UROM_HUMAN			Q8NHW8_HUMAN,I3L4Y6_HUMAN,I3L4B0_HUMAN,I3L2J2_HUMAN,I3L1M3_HUMAN,I3L1A9_HUMAN,B3KXM9_HUMAN		5	1143	-			UPI0000137E1A	338			ZP.		SNV	UMOD,missense_variant,p.Asn371Lys,ENST00000396134,NM_001278614.1;UMOD,missense_variant,p.Asn387Lys,ENST00000396138,NM_003361.3,NM_001008389.2;UMOD,missense_variant,p.Asn371Lys,ENST00000424589,;UMOD,missense_variant,p.Asn338Lys,ENST00000570689,;UMOD,missense_variant,p.Asn338Lys,ENST00000396142,;UMOD,missense_variant,p.Asn338Lys,ENST00000302509,;UMOD,downstream_gene_variant,,ENST00000574195,;UMOD,downstream_gene_variant,,ENST00000571174,;UMOD,downstream_gene_variant,,ENST00000577168,;UMOD,downstream_gene_variant,,ENST00000570972,;UMOD,downstream_gene_variant,,ENST00000573567,;UMOD,downstream_gene_variant,,ENST00000576546,;UMOD,downstream_gene_variant,,ENST00000570757,;UMOD,downstream_gene_variant,,ENST00000576688,;UMOD,upstream_gene_variant,,ENST00000570331,;	uc002dgz.2	c.1014T>A	1080/2251	1	1			c.1014T>A						16	SNP	c.(1012-1014)AAT>AAA	1	1			ovary(1)|skin(1)	2	Broad	uromodulin precursor			20357616		0.557	ENSG00000169344	16727	g.chr16:20357616A>T	cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding							85.086874	KEEP	24	19	-1	53	54	24	19	-1	91.424891	53	54	0.258333	1	0	0	0	0	1	0	0	0	--	--		0	T			UMOD_uc002dha.2_Missense_Mutation_p.N338K|UMOD_uc002dhb.2_Missense_Mutation_p.N371K	223	GBM-28-5216-TP	p.N338K	A	CCTTCATGTCATTGGCCCCAC	NM_003361	NP_003352	20357616	P07911	UROM_HUMAN	0			5	1143	-	T	T			Missense_Mutation	338			ZP.			
UMODL1	89766	broad.mit.edu	GRCh37	21	43524017	43524017	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0188-01	TCGA-06-0188-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408989.2:c.1339C>T	p.Arg447Ter	p.R447*	ENST00000408989	NM_173568.3	447	Cga/Tga	0			1			T	R/*	uc002zaf.1	protein_coding		CCDS42936.1			1339/3957									ovary(2)|skin(1)	3	c.(1339-1341)CGA>TGA			Pfam_domain:PF01390,PROSITE_profiles:PS50024,hmmpanther:PTHR22962,hmmpanther:PTHR22962:SF135	uromodulin-like 1 isoform 1 precursor				ENSP00000386147		23-Sep	8.24E-06			0.000116					rs776622476,COSM2150595,COSM2150596,COSM2150594,COSM2150593	23-Sep	.		ENST00000408910	Transcript				cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	ENSG00000177398	g.chr21:43524017C>T	12560			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,21,43524017,C,T&fts=all	R447*	--	--	1																																		UMODL1_uc002zad.1_Nonsense_Mutation_p.R375*|UMODL1_uc002zae.1_Nonsense_Mutation_p.R375*|UMODL1_uc002zag.1_Nonsense_Mutation_p.R447*|UMODL1_uc010gow.1_Nonsense_Mutation_p.R239*|UMODL1_uc002zai.1_Nonsense_Mutation_p.R98*|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_Nonsense_Mutation_p.R98*|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Nonsense_Mutation_p.R192*|C21orf128_uc002zak.2_Silent_p.S72S	0,1,1,1,1				p.R447*	NM_001004416	NP_001004416			0,1,1,1,1	UROL1_HUMAN	UMODL1	HGNC	Q5DID0	UROL1_HUMAN			Q6L9N9_HUMAN		9	1339	+			UPI00006C2192	447		R -> Q.	Extracellular (Potential).|SEA 1.		SNV	UMODL1,stop_gained,p.Arg375Ter,ENST00000400424,NM_001199528.2;UMODL1,stop_gained,p.Arg375Ter,ENST00000400427,NM_001199527.1;UMODL1,stop_gained,p.Arg447Ter,ENST00000408989,NM_173568.3;UMODL1,stop_gained,p.Arg447Ter,ENST00000408910,NM_001004416.2;C21orf128,synonymous_variant,p.=,ENST00000329015,;UMODL1,3_prime_UTR_variant,,ENST00000491559,;UMODL1,3_prime_UTR_variant,,ENST00000466434,;UMODL1,3_prime_UTR_variant,,ENST00000400421,;UMODL1,3_prime_UTR_variant,,ENST00000468982,;UMODL1,3_prime_UTR_variant,,ENST00000485357,;UMODL1,3_prime_UTR_variant,,ENST00000497243,;	uc002zaf.1	c.1339C>T	1339/4878	5	2			c.1339C>T						21	SNP	c.(1339-1341)CGA>TGA	24	24			ovary(2)|skin(1)	3	Broad	uromodulin-like 1 isoform 1 precursor			43524017		0.562	ENSG00000177398	16728	g.chr21:43524017C>T		cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)			Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)			143.453851	KEEP	22	37	-1	66	61	22	37	-1	148.873686	66	61	0.303797	1	0	0	0	0	0	1	0	0	--	--		0	T			UMODL1_uc002zad.1_Nonsense_Mutation_p.R375*|UMODL1_uc002zae.1_Nonsense_Mutation_p.R375*|UMODL1_uc002zag.1_Nonsense_Mutation_p.R447*|UMODL1_uc010gow.1_Nonsense_Mutation_p.R239*|UMODL1_uc002zai.1_Nonsense_Mutation_p.R98*|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_Nonsense_Mutation_p.R98*|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Nonsense_Mutation_p.R192*|C21orf128_uc002zak.2_Silent_p.S72S	41	GBM-06-0188-TP	p.R447*	C	TGACTTGTACCGAAGTGGGAA	NM_001004416	NP_001004416	43524017	Q5DID0	UROL1_HUMAN	0			9	1339	+	T	T			Nonsense_Mutation	447		R -> Q.	Extracellular (Potential).|SEA 1.			
UMODL1	89766	broad.mit.edu	GRCh37	21	43522316	43522316	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0749-01	TCGA-06-0749-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408989.2:c.1227C>A	p.His409Gln	p.H409Q	ENST00000408989	NM_173568.3	409	caC/caA	0			1			A	H/Q	uc002zaf.1	protein_coding		CCDS42936.1			1227/3957									ovary(2)|skin(1)	3	c.(1225-1227)CAC>CAA			Pfam_domain:PF01390,PROSITE_profiles:PS50024,hmmpanther:PTHR22962,hmmpanther:PTHR22962:SF135	uromodulin-like 1 isoform 1 precursor				ENSP00000386147		23-Aug	8.27E-06							6.06E-05	rs754877661,COSM2151881,COSM2151880	23-Aug	.		ENST00000408910	Transcript				cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	ENSG00000177398	g.chr21:43522316C>A	12560			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=UROL1_HUMAN&rb=395&re=501&var=H409Q	NA	getma.org/?cm=var&var=hg19,21,43522316,C,A&fts=all	H409Q	--	--	1																																		UMODL1_uc002zad.1_Missense_Mutation_p.H337Q|UMODL1_uc002zae.1_Missense_Mutation_p.H337Q|UMODL1_uc002zag.1_Missense_Mutation_p.H409Q|UMODL1_uc010gow.1_Missense_Mutation_p.H201Q|UMODL1_uc002zai.1_Missense_Mutation_p.H60Q|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_Missense_Mutation_p.H60Q|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Missense_Mutation_p.H154Q|C21orf128_uc002zak.2_3'UTR	0,1,1			benign(0.044)	p.H409Q	NM_001004416	NP_001004416		tolerated(0.18)	0,1,1	UROL1_HUMAN	UMODL1	HGNC	Q5DID0	UROL1_HUMAN			Q6L9N9_HUMAN		8	1227	+			UPI00006C2192	409			Extracellular (Potential).|SEA 1.		SNV	UMODL1,missense_variant,p.His337Gln,ENST00000400424,NM_001199528.2;UMODL1,missense_variant,p.His337Gln,ENST00000400427,NM_001199527.1;UMODL1,missense_variant,p.His409Gln,ENST00000408989,NM_173568.3;UMODL1,missense_variant,p.His409Gln,ENST00000408910,NM_001004416.2;C21orf128,3_prime_UTR_variant,,ENST00000329015,;UMODL1,3_prime_UTR_variant,,ENST00000491559,;UMODL1,3_prime_UTR_variant,,ENST00000466434,;UMODL1,3_prime_UTR_variant,,ENST00000400421,;UMODL1,3_prime_UTR_variant,,ENST00000468982,;UMODL1,3_prime_UTR_variant,,ENST00000485357,;UMODL1,3_prime_UTR_variant,,ENST00000497243,;	uc002zaf.1	c.1227C>A	1227/4878	2	2			c.1227C>A						21	SNP	c.(1225-1227)CAC>CAA	27	27			ovary(2)|skin(1)	3	Broad	uromodulin-like 1 isoform 1 precursor			43522316		0.428	ENSG00000177398	16728	g.chr21:43522316C>A		cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)			Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)			52.114201	KEEP	9	15	0.625	48	44	9	15	0.625	60.902995	48	44	0.2	1	0	0	0	0	1	0	0	0	--	--		0	A			UMODL1_uc002zad.1_Missense_Mutation_p.H337Q|UMODL1_uc002zae.1_Missense_Mutation_p.H337Q|UMODL1_uc002zag.1_Missense_Mutation_p.H409Q|UMODL1_uc010gow.1_Missense_Mutation_p.H201Q|UMODL1_uc002zai.1_Missense_Mutation_p.H60Q|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_Missense_Mutation_p.H60Q|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Missense_Mutation_p.H154Q|C21orf128_uc002zak.2_3'UTR	69	GBM-06-0749-TP	p.H409Q	C	TTGTAAACCACAACCTGACGG	NM_001004416	NP_001004416	43522316	Q5DID0	UROL1_HUMAN	0			8	1227	+	A	A			Missense_Mutation	409			Extracellular (Potential).|SEA 1.			
UMODL1	89766	broad.mit.edu	GRCh37	21	43539379	43539379	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2565-01	TCGA-06-2565-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408989.2:c.3018C>T	p.Thr1006=	p.T1006=	ENST00000408989	NM_173568.3	1006	acC/acT	0			1			T	T	uc002zaf.1	protein_coding		CCDS42936.1			2634/3957									ovary(2)|skin(1)	3	c.(2632-2634)ACC>ACT			PROSITE_profiles:PS50024,hmmpanther:PTHR22962,hmmpanther:PTHR22962:SF135	uromodulin-like 1 isoform 1 precursor				ENSP00000386147		15/23	6.60E-05			0.000116		0.000105			rs757010125,COSM2153022,COSM2153021	15/23	.		ENST00000408910	Transcript				cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	ENSG00000177398	g.chr21:43539379C>T	12560			LOW								--	--	1																																		UMODL1_uc002zad.1_Silent_p.T806T|UMODL1_uc002zae.1_Silent_p.T934T|UMODL1_uc002zag.1_Silent_p.T1006T|UMODL1_uc002zal.1_5'Flank	0,1,1				p.T878T	NM_001004416	NP_001004416			0,1,1	UROL1_HUMAN	UMODL1	HGNC	Q5DID0	UROL1_HUMAN			Q6L9N9_HUMAN		15	2634	+			UPI00006C2192	878			Extracellular (Potential).|SEA 2.		SNV	UMODL1,synonymous_variant,p.=,ENST00000400424,NM_001199528.2;UMODL1,synonymous_variant,p.=,ENST00000400427,NM_001199527.1;UMODL1,synonymous_variant,p.=,ENST00000408989,NM_173568.3;UMODL1,synonymous_variant,p.=,ENST00000408910,NM_001004416.2;UMODL1,upstream_gene_variant,,ENST00000400423,;UMODL1,downstream_gene_variant,,ENST00000475047,;UMODL1,upstream_gene_variant,,ENST00000484174,;	uc002zaf.1	c.2634C>T	2634/4878	1	1			c.2634C>T						21	SNP	c.(2632-2634)ACC>ACT	12	12			ovary(2)|skin(1)	3	Broad	uromodulin-like 1 isoform 1 precursor			43539379		0.567	ENSG00000177398	16728	g.chr21:43539379C>T		cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)			Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)			408.778789	KEEP	73	89	-1	241	254	73	89	-1	440.803498	241	254	0.255499	1	0	0	0	0	0	0	1	0	--	--		0	T			UMODL1_uc002zad.1_Silent_p.T806T|UMODL1_uc002zae.1_Silent_p.T934T|UMODL1_uc002zag.1_Silent_p.T1006T|UMODL1_uc002zal.1_5'Flank	88	GBM-06-2565-TP	p.T878T	C	CATTTCTCACCGCCTTCCAGA	NM_001004416	NP_001004416	43539379	Q5DID0	UROL1_HUMAN	0			15	2634	+	T	T			Silent	878			Extracellular (Potential).|SEA 2.			
UMODL1	0	broad.mit.edu	GRCh37	21	43496188	43496188	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-12-3652-01	TCGA-12-3652-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408910.2:c.151G>C	p.Val51Leu	p.V51L	ENST00000408910	NM_001004416.2	51	Gtg/Ctg	0			1			C	V/L	uc002zaf.1	protein_coding		CCDS42936.1			151/3957									ovary(2)|skin(1)	3	c.(151-153)GTG>CTG			Pfam_domain:PF07546,PROSITE_profiles:PS51041,hmmpanther:PTHR22962,hmmpanther:PTHR22962:SF135	uromodulin-like 1 isoform 1 precursor				ENSP00000386147		23-Feb									COSM3405405	23-Feb	.		ENST00000408910	Transcript				cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	ENSG00000177398	g.chr21:43496188G>C	12560			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=UROL1_HUMAN&rb=33&re=101&var=V51L	NA	getma.org/?cm=var&var=hg19,21,43496188,G,C&fts=all	V51L	--	--	1																																		UMODL1_uc002zad.1_5'UTR|UMODL1_uc002zae.1_5'UTR|UMODL1_uc002zag.1_Missense_Mutation_p.V51L|uc002zah.1_RNA	1			possibly_damaging(0.531)	p.V51L	NM_001004416	NP_001004416		tolerated(0.19)	1	UROL1_HUMAN	UMODL1	HGNC	Q5DID0	UROL1_HUMAN			Q6L9N9_HUMAN		2	151	+			UPI00006C2192	51			Extracellular (Potential).|EMI.		SNV	UMODL1,missense_variant,p.Val51Leu,ENST00000408989,NM_173568.3;UMODL1,missense_variant,p.Val51Leu,ENST00000408910,NM_001004416.2;UMODL1,5_prime_UTR_variant,,ENST00000400424,NM_001199528.2;UMODL1,5_prime_UTR_variant,,ENST00000400427,NM_001199527.1;	uc002zaf.1	c.151G>C	151/4878	4	4			c.151G>C						21	SNP	c.(151-153)GTG>CTG	42	42			ovary(2)|skin(1)	3	Broad	uromodulin-like 1 isoform 1 precursor			43496188		0.587	ENSG00000177398	16728	g.chr21:43496188G>C		cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)			Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)			317.518827	KEEP	57	42	-1	73	67	57	42	-1	318.96303	73	67	0.412844	1	0	0	0	0	1	0	0	0	--	--		0	C			UMODL1_uc002zad.1_5'UTR|UMODL1_uc002zae.1_5'UTR|UMODL1_uc002zag.1_Missense_Mutation_p.V51L|uc002zah.1_RNA	127	GBM-12-3652-TP	p.V51L	G	GGTGGAGGCCGTGCAGACGTC	NM_001004416	NP_001004416	43496188	Q5DID0	UROL1_HUMAN	0			2	151	+	C	C			Missense_Mutation	51			Extracellular (Potential).|EMI.			
UMODL1	89766		GRCh37	21	43519223	43519223	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0151-01	TCGA-06-0151-01																				ENST00000408989.2:c.1119G>A	p.Leu373=	p.L373=	ENST00000408989	NM_173568.3	373	ctG/ctA	0																																																																																																																																																																																																																																												
UMODL1	89766		GRCh37	21	43524008	43524008	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000408989.2:c.1330G>C	p.Asp444His	p.D444H	ENST00000408989	NM_173568.3	444	Gac/Cac	0																																																																																																																																																																																																																																												
UNC13B	0	broad.mit.edu	GRCh37	9	35386179	35386179	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-4208-01	TCGA-32-4208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378495.3:c.2736C>T	p.Ser912=	p.S912=	ENST00000378495	NM_006377.3	912	agC/agT	0			1			T	S	uc003zwq.2	protein_coding	YES	CCDS6579.1			2736/4776									ovary(3)|large_intestine(1)|skin(1)	5	c.(2734-2736)AGC>AGT			hmmpanther:PTHR10480	UNC13 (C. elegans)-like				ENSP00000367756		23/39									COSM3413638,COSM3413639	23/39	.		ENST00000378495	Transcript			excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	ENSG00000198722	g.chr9:35386179C>T	12566			LOW								--	--	1																																		UNC13B_uc003zwr.2_Silent_p.S912S	1,1	1			p.S912S	NM_006377	NP_006368			1,1	UN13B_HUMAN	UNC13B	HGNC	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)				23	3028	+	all_epithelial(49;0.212)		UPI0000211336	912					SNV	UNC13B,synonymous_variant,p.=,ENST00000378495,NM_006377.3;UNC13B,synonymous_variant,p.=,ENST00000396787,;UNC13B,synonymous_variant,p.=,ENST00000378496,;	uc003zwq.2	c.2736C>T	2958/6303	2	2			c.2736C>T						9	SNP	c.(2734-2736)AGC>AGT	18	18			ovary(3)|large_intestine(1)|skin(1)	5	Broad	UNC13 (C. elegans)-like			35386179		0.483	ENSG00000198722	16733	g.chr9:35386179C>T	excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity							-38.472417	KEEP	0	3	-1	91	101	0	3	-1	7.256143	91	101	0.017241	1	0	0	0	0	0	0	1	0	--	--		0	T			UNC13B_uc003zwr.2_Silent_p.S912S	243	GBM-32-4208-TP	p.S912S	C	AACTGCAAAGCCCTCCAAGAG	NM_006377	NP_006368	35386179	O14795	UN13B_HUMAN	0	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		23	3028	+	T	T	all_epithelial(49;0.212)		Silent	912						
UNC13C	440279	broad.mit.edu	GRCh37	15	54305644	54305644	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0650-01	TCGA-06-0650-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260323.11:c.544C>T	p.Arg182Ter	p.R182*	ENST00000260323	NM_001080534.1	182	Cga/Tga	0			1			T	R/*	uc002ack.2	protein_coding	YES	CCDS45264.1			544/6645									ovary(5)|pancreas(2)	7	c.(544-546)CGA>TGA			hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2,Low_complexity_(Seg):seg	unc-13 homolog C				ENSP00000260323		Jan-32	8.27E-06							6.08E-05	rs779280629,COSM2217757,COSM2217758,COSM3401825	Jan-32	.		ENST00000260323	Transcript			exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	ENSG00000137766	g.chr15:54305644C>T	23149			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,15,54305644,C,T&fts=all	R182*	--	--	1																																			0,1,1,1	1			p.R182*	NM_001080534	NP_001074003			0,1,1,1	UN13C_HUMAN	UNC13C	HGNC	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	H3BRP8_HUMAN		1	544	+			UPI0000DD82AB	182					SNV	UNC13C,stop_gained,p.Arg182Ter,ENST00000545554,;UNC13C,stop_gained,p.Arg182Ter,ENST00000537900,;UNC13C,stop_gained,p.Arg182Ter,ENST00000260323,NM_001080534.1;	uc002ack.2	c.544C>T	544/8131	5	2			c.544C>T						15	SNP	c.(544-546)CGA>TGA	35	35			ovary(5)|pancreas(2)	7	Broad	unc-13 homolog C			54305644		0.458	ENSG00000137766	16734	g.chr15:54305644C>T	exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			2691			2691	-14.658585	KEEP	2	3	-1	65	55	2	3	-1	10.401622	65	55	0.044248	1	0	0	0	0	0	1	0	0	--	--		0	T				63	GBM-06-0650-TP	p.R182*	C	GGGAGCTTTACGAAAACTGAG	NM_001080534	NP_001074003	54305644	Q8NB66	UN13C_HUMAN	0		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	544	+	T	T			Nonsense_Mutation	182						
UNC13C	0	broad.mit.edu	GRCh37	15	54624283	54624283	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-12-0821-01	TCGA-12-0821-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260323.11:c.4468T>A	p.Leu1490Met	p.L1490M	ENST00000260323	NM_001080534.1	1490	Ttg/Atg	0			1			A	L/M	uc002ack.2	protein_coding	YES	CCDS45264.1			4468/6645									ovary(5)|pancreas(2)	7	c.(4468-4470)TTG>ATG			hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2	unc-13 homolog C				ENSP00000260323		14/32									COSM3401830,COSM3401831,COSM3401832	14/32	.		ENST00000260323	Transcript			exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	ENSG00000137766	g.chr15:54624283T>A	23149			MODERATE		2.615	medium	getma.org/?cm=msa&ty=f&p=UN13C_HUMAN&rb=1314&re=1513&var=L1490M	NA	getma.org/?cm=var&var=hg19,15,54624283,T,A&fts=all	L1490M	--	--	1																																		UNC13C_uc002acl.2_Missense_Mutation_p.L320M	1,1,1	1		probably_damaging(0.999)	p.L1490M	NM_001080534	NP_001074003		deleterious_low_confidence(0)	1,1,1	UN13C_HUMAN	UNC13C	HGNC	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	H3BRP8_HUMAN		13	4468	+			UPI0000DD82AB	1490					SNV	UNC13C,missense_variant,p.Leu1490Met,ENST00000545554,;UNC13C,missense_variant,p.Leu1488Met,ENST00000537900,;UNC13C,missense_variant,p.Leu1490Met,ENST00000260323,NM_001080534.1;UNC13C,non_coding_transcript_exon_variant,,ENST00000561210,;	uc002ack.2	c.4468T>A	4468/8131	1	1			c.4468T>A						15	SNP	c.(4468-4470)TTG>ATG	58	58			ovary(5)|pancreas(2)	7	Broad	unc-13 homolog C			54624283		0.313	ENSG00000137766	16734	g.chr15:54624283T>A	exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			2691			2691	31.455097	KEEP	6	7	-1	1	3	6	7	-1	32.0325	1	3	0.714286	1	0	0	0	0	1	0	0	0	--	--		0	A			UNC13C_uc002acl.2_Missense_Mutation_p.L320M	123	GBM-12-0821-TP	p.L1490M	T	ACATAACTCTTTGAGGATTGA	NM_001080534	NP_001074003	54624283	Q8NB66	UN13C_HUMAN	0		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	13	4468	+	A	A			Missense_Mutation	1490						
UNC13C	0	broad.mit.edu	GRCh37	15	54556392	54556392	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01	TCGA-16-0846-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260323.11:c.3475G>A	p.Gly1159Ser	p.G1159S	ENST00000260323	NM_001080534.1	1159	Ggt/Agt	0			1			A	G/S	uc002ack.2	protein_coding	YES	CCDS45264.1			3475/6645									ovary(5)|pancreas(2)	7	c.(3475-3477)GGT>AGT			hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2	unc-13 homolog C				ENSP00000260323		Aug-32									COSM3401827,COSM3401828,COSM3401829	Aug-32	.		ENST00000260323	Transcript			exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	ENSG00000137766	g.chr15:54556392G>A	23149			MODERATE		2.75	medium	getma.org/?cm=msa&ty=f&p=UN13C_HUMAN&rb=1151&re=1221&var=G1159S	NA	getma.org/?cm=var&var=hg19,15,54556392,G,A&fts=all	G1159S	--	--	1																																		UNC13C_uc002acl.2_5'UTR	1,1,1	1		probably_damaging(1)	p.G1159S	NM_001080534	NP_001074003		deleterious_low_confidence(0.02)	1,1,1	UN13C_HUMAN	UNC13C	HGNC	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	H3BRP8_HUMAN		7	3475	+			UPI0000DD82AB	1159					SNV	UNC13C,missense_variant,p.Gly1159Ser,ENST00000545554,;UNC13C,missense_variant,p.Gly1157Ser,ENST00000537900,;UNC13C,missense_variant,p.Gly1159Ser,ENST00000260323,NM_001080534.1;UNC13C,non_coding_transcript_exon_variant,,ENST00000561210,;	uc002ack.2	c.3475G>A	3475/8131	1	1			c.3475G>A						15	SNP	c.(3475-3477)GGT>AGT	51	51			ovary(5)|pancreas(2)	7	Broad	unc-13 homolog C			54556392		0.398	ENSG00000137766	16734	g.chr15:54556392G>A	exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			2691			2691	18.650999	KEEP	3	3	-1	5	0	3	3	-1	18.738233	5	0	0.6	1	0	0	0	0	1	0	0	0	--	--		0	A			UNC13C_uc002acl.2_5'UTR	155	GBM-16-0846-TP	p.G1159S	G	TTCTAAACATGGTGCCGAAGA	NM_001080534	NP_001074003	54556392	Q8NB66	UN13C_HUMAN	0		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	7	3475	+	A	A			Missense_Mutation	1159						
UNC13C	440279		GRCh37	15	54786821	54786821	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000260323.11:c.4949G>A	p.Arg1650Gln	p.R1650Q	ENST00000260323	NM_001080534.1	1650	cGg/cAg	0																																																																																																																																																																																																																																												
UNC13D	201294	broad.mit.edu	GRCh37	17	73827417	73827417	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0184-01	TCGA-06-0184-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000207549.4:c.2460G>A	p.Leu820=	p.L820=	ENST00000207549	NM_199242.2	820	ctG/ctA	0			1			T	L	uc002jpp.2	protein_coding	YES	CCDS11730.1			2460/3273									upper_aerodigestive_tract(1)|skin(1)	2	c.(2458-2460)CTG>CTA			Low_complexity_(Seg):seg,Pfam_domain:PF10540,hmmpanther:PTHR15015:SF20,hmmpanther:PTHR15015,PROSITE_profiles:PS51259	unc-13 homolog D				ENSP00000207549		26/32									COSM2150446	26/32	.	Familial_Hemophagocytic_Lymphohistiocytosis	ENST00000207549	Transcript	1		positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	ENSG00000092929	g.chr17:73827417C>T	23147			LOW								--	--	1																																		UNC13D_uc010wsk.1_Silent_p.L820L|UNC13D_uc002jpq.1_3'UTR	1	1			p.L820L	NM_199242	NP_954712			1	UN13D_HUMAN	UNC13D	HGNC	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		K7EIH3_HUMAN		26	2840	-			UPI000015FC91	820			MHD2.		SNV	UNC13D,synonymous_variant,p.=,ENST00000207549,NM_199242.2;UNC13D,synonymous_variant,p.=,ENST00000412096,;UNC13D,upstream_gene_variant,,ENST00000589670,;UNC13D,downstream_gene_variant,,ENST00000586147,;UNC13D,non_coding_transcript_exon_variant,,ENST00000586930,;UNC13D,non_coding_transcript_exon_variant,,ENST00000591563,;UNC13D,downstream_gene_variant,,ENST00000587105,;UNC13D,upstream_gene_variant,,ENST00000590856,;UNC13D,downstream_gene_variant,,ENST00000591616,;UNC13D,upstream_gene_variant,,ENST00000586519,;	uc002jpp.2	c.2460G>A	2840/4393	2	2			c.2460G>A						17	SNP	c.(2458-2460)CTG>CTA	29	29			upper_aerodigestive_tract(1)|skin(1)	2	Broad	unc-13 homolog D			73827417	Familial_Hemophagocytic_Lymphohistiocytosis	0.667	ENSG00000092929	16735	g.chr17:73827417C>T	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding							57.151131	KEEP	18	8	-1	15	16	18	8	-1	57.433465	15	16	0.42	1	0	0	0	0	0	0	1	0	--	--		0	T			UNC13D_uc010wsk.1_Silent_p.L820L|UNC13D_uc002jpq.1_3'UTR	39	GBM-06-0184-TP	p.L820L	C	GGGTCCAGAGCAGGGTCAGGA	NM_199242	NP_954712	73827417	Q70J99	UN13D_HUMAN	0	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		26	2840	-	T	T			Silent	820			MHD2.			
UNC45A	0	broad.mit.edu	GRCh37	15	91488293	91488293	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-0871-01	TCGA-14-0871-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000418476.2:c.1199A>G	p.Lys400Arg	p.K400R	ENST00000418476	NM_018671.3	400	aAg/aGg	0			1			G	K/R	uc002bqg.2	protein_coding	YES	CCDS10367.1			1199/2835									ovary(2)	2	c.(1198-1200)AAG>AGG			hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF275,Pfam_domain:PF11701	smooth muscle cell associated protein-1 isoform				ENSP00000407487		20-Sep									rs750902834,COSM3402019	20-Sep	.		ENST00000418476	Transcript			cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding	ENSG00000140553	g.chr15:91488293A>G	30594			MODERATE		0.565	neutral	getma.org/?cm=msa&ty=f&p=UN45A_HUMAN&rb=287&re=505&var=K400R	getma.org/pdb.php?prot=UN45A_HUMAN&from=287&to=505&var=K400R	getma.org/?cm=var&var=hg19,15,91488293,A,G&fts=all	K400R	--	--	1																																		UNC45A_uc002bqd.2_Missense_Mutation_p.K385R|UNC45A_uc010uqr.1_5'Flank	0,1	1		benign(0.002)	p.K400R	NM_018671	NP_061141		tolerated(0.6)	0,1	UN45A_HUMAN	UNC45A	HGNC	Q9H3U1	UN45A_HUMAN	Lung(145;0.189)				9	1539	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		UPI000000D953	400					SNV	UNC45A,missense_variant,p.Lys385Arg,ENST00000394275,NM_001039675.1;UNC45A,missense_variant,p.Lys400Arg,ENST00000418476,NM_018671.3;UNC45A,downstream_gene_variant,,ENST00000553671,;UNC45A,splice_region_variant,,ENST00000554481,;UNC45A,intron_variant,,ENST00000556704,;UNC45A,upstream_gene_variant,,ENST00000487875,;UNC45A,upstream_gene_variant,,ENST00000471780,;UNC45A,downstream_gene_variant,,ENST00000557212,;UNC45A,downstream_gene_variant,,ENST00000486253,;	uc002bqg.2	c.1199A>G	1239/3252	4	4			c.1199A>G						15	SNP	c.(1198-1200)AAG>AGG	21	21			ovary(2)	2	Broad	smooth muscle cell associated protein-1 isoform			91488293		0.478	ENSG00000140553	16736	g.chr15:91488293A>G	cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding							-10.018022	KEEP	2	3	-1	66	46	2	3	-1	12.579314	66	46	0.048077	1	0	0	0	0	1	0	0	0	--	--		0	G			UNC45A_uc002bqd.2_Missense_Mutation_p.K385R|UNC45A_uc010uqr.1_5'Flank	141	GBM-14-0871-TP	p.K400R	A	AACTACATCAAGTAAGGAAGT	NM_018671	NP_061141	91488293	Q9H3U1	UN45A_HUMAN	0	Lung(145;0.189)		9	1539	+	G	G	Lung NSC(78;0.0771)|all_lung(78;0.137)		Missense_Mutation	400						
UNC45B	146862		GRCh37	17	33491149	33491149	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000268876.5:c.1115G>A	p.Arg372His	p.R372H	ENST00000268876	NM_173167.2	372	cGc/cAc	0																																																																																																																																																																																																																																												
UNC5A	90249	broad.mit.edu	GRCh37	5	176304269	176304269	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0185-01	TCGA-06-0185-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329542.4:c.1455G>A	p.Pro485=	p.P485=	ENST00000329542	NM_133369.2	485	ccG/ccA	0			1			A	P	uc003mey.2	protein_coding	YES	CCDS34299.1			1455/2529									skin(1)	1	c.(1453-1455)CCG>CCA			SMART_domains:SM00218,Pfam_domain:PF00791,hmmpanther:PTHR12582:SF4,hmmpanther:PTHR12582,PROSITE_profiles:PS51145	netrin receptor Unc5h1 precursor				ENSP00000332737		15-Sep	9.89E-05				0.000151	6.12E-05		0.000428	rs779076146,COSM2150522,COSM3410161	15-Sep	common_variant		ENST00000329542	Transcript			apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		ENSG00000113763	g.chr5:176304269G>A	12567			LOW								--	--	1																																			0,1,1	1			p.P485P	NM_133369	NP_588610			0,1,1	UNC5A_HUMAN	UNC5A	HGNC	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)				9	1647	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	UPI0000047F37	485			ZU5.|Cytoplasmic (Potential).		SNV	UNC5A,synonymous_variant,p.=,ENST00000329542,NM_133369.2;UNC5A,synonymous_variant,p.=,ENST00000261961,;HK3,downstream_gene_variant,,ENST00000292432,NM_002115.2;UNC5A,downstream_gene_variant,,ENST00000509580,;HK3,downstream_gene_variant,,ENST00000514058,;HK3,downstream_gene_variant,,ENST00000506834,;UNC5A,downstream_gene_variant,,ENST00000513890,;HK3,downstream_gene_variant,,ENST00000514666,;	uc003mey.2	c.1455G>A	1729/3812	1	1			c.1455G>A						5	SNP	c.(1453-1455)CCG>CCA	62	62			skin(1)	1	Broad	netrin receptor Unc5h1 precursor			176304269		0.652	ENSG00000113763	16739	g.chr5:176304269G>A	apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane								60.152442	KEEP	21	15	-1	54	30	21	15	-1	61.703063	54	30	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	A				40	GBM-06-0185-TP	p.P485P	G	TGCACAAGCCGGAAGACGTGA	NM_133369	NP_588610	176304269	Q6ZN44	UNC5A_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1647	+	A	A	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Silent	485			ZU5.|Cytoplasmic (Potential).			
UNC5A	0	broad.mit.edu	GRCh37	5	176301280	176301280	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-4928-01	TCGA-76-4928-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329542.4:c.1091T>C	p.Leu364Pro	p.L364P	ENST00000329542	NM_133369.2	364	cTc/cCc	0			1			C	L/P	uc003mey.2	protein_coding	YES	CCDS34299.1			1091/2529									skin(1)	1	c.(1090-1092)CTC>CCC			hmmpanther:PTHR12582:SF4,hmmpanther:PTHR12582	netrin receptor Unc5h1 precursor				ENSP00000332737		15-Aug									COSM3748295,COSM3748296	15-Aug	.		ENST00000329542	Transcript			apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		ENSG00000113763	g.chr5:176301280T>C	12567			MODERATE		2.16	medium	getma.org/?cm=msa&ty=f&p=UNC5A_HUMAN&rb=240&re=438&var=L364P	NA	getma.org/?cm=var&var=hg19,5,176301280,T,C&fts=all	L364P	--	--	1																																		UNC5A_uc010jkg.1_Missense_Mutation_p.L324P	1,1	1		probably_damaging(0.999)	p.L364P	NM_133369	NP_588610		deleterious(0.03)	1,1	UNC5A_HUMAN	UNC5A	HGNC	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)				8	1283	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	UPI0000047F37	364			Cytoplasmic (Potential).		SNV	UNC5A,missense_variant,p.Leu364Pro,ENST00000329542,NM_133369.2;UNC5A,missense_variant,p.Leu324Pro,ENST00000261961,;UNC5A,downstream_gene_variant,,ENST00000509580,;UNC5A,3_prime_UTR_variant,,ENST00000513890,;	uc003mey.2	c.1091T>C	1365/3812	3	3			c.1091T>C						5	SNP	c.(1090-1092)CTC>CCC	61	61			skin(1)	1	Broad	netrin receptor Unc5h1 precursor			176301280		0.642	ENSG00000113763	16739	g.chr5:176301280T>C	apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane								-20.490614	KEEP	2	3	-1	62	76	2	3	-1	9.709273	62	76	0.031746	1	0	0	0	0	1	0	0	0	--	--		0	C			UNC5A_uc010jkg.1_Missense_Mutation_p.L324P	268	GBM-76-4928-TP	p.L364P	T	CCCCATCTGCTCACCATCCAG	NM_133369	NP_588610	176301280	Q6ZN44	UNC5A_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1283	+	C	C	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Missense_Mutation	364			Cytoplasmic (Potential).			
UNC5C	8633	broad.mit.edu	GRCh37	4	96199412	96199412	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01	TCGA-06-1804-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000453304.1:c.592G>A	p.Glu198Lys	p.E198K	ENST00000453304	NM_003728.3	198	Gag/Aag	0			1			T	E/K	uc003htp.1	protein_coding	YES	CCDS3643.1			592/2796									ovary(3)|pancreas(1)	4	c.(592-594)GAG>AAG			Superfamily_domains:SSF48726,SMART_domains:SM00408,SMART_domains:SM00409,Pfam_domain:PF07679,Gene3D:2.60.40.10,hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF7,PROSITE_profiles:PS50835	unc5C precursor				ENSP00000406022		16-Apr									COSM1310395	16-Apr	.		ENST00000453304	Transcript			apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	ENSG00000182168	g.chr4:96199412C>T	12569			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=UNC5C_HUMAN&rb=167&re=257&var=E198K	getma.org/pdb.php?prot=UNC5C_HUMAN&from=167&to=257&var=E198K	getma.org/?cm=var&var=hg19,4,96199412,C,T&fts=all	E198K	--	--	1																																		UNC5C_uc010ilc.1_Missense_Mutation_p.E198K|UNC5C_uc003htq.2_Missense_Mutation_p.E198K	1	1		possibly_damaging(0.791)	p.E198K	NM_003728	NP_003719		deleterious(0.01)	1	UNC5C_HUMAN	UNC5C	HGNC	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	Q4W5H4_HUMAN		4	746	-		Hepatocellular(203;0.114)	UPI000004E6A5	198			Extracellular (Potential).|Ig-like C2-type.		SNV	UNC5C,missense_variant,p.Glu198Lys,ENST00000453304,NM_003728.3;UNC5C,missense_variant,p.Glu198Lys,ENST00000513796,;UNC5C,missense_variant,p.Glu198Lys,ENST00000506749,;UNC5C,missense_variant,p.Glu198Lys,ENST00000504962,;	uc003htp.1	c.592G>A	941/9875	1	1			c.592G>A						4	SNP	c.(592-594)GAG>AAG	12	12			ovary(3)|pancreas(1)	4	Broad	unc5C precursor			96199412		0.453	ENSG00000182168	16741	g.chr4:96199412C>T	apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity							47.122909	KEEP	11	6	-1	10	9	11	6	-1	47.129971	10	9	0.483871	1	0	0	0	0	1	0	0	0	--	--		0	T			UNC5C_uc010ilc.1_Missense_Mutation_p.E198K|UNC5C_uc003htq.2_Missense_Mutation_p.E198K	79	GBM-06-1804-TP	p.E198K	C	TTATTCACCTCAGCCACTGGG	NM_003728	NP_003719	96199412	O95185	UNC5C_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	4	746	-	T	T		Hepatocellular(203;0.114)	Missense_Mutation	198			Extracellular (Potential).|Ig-like C2-type.			
UNC5C	0	broad.mit.edu	GRCh37	4	96256705	96256705	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-28-5209-01	TCGA-28-5209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000453304.1:c.202C>G	p.Pro68Ala	p.P68A	ENST00000453304	NM_003728.3	68	Cct/Gct	0			1			C	P/A	uc003htp.1	protein_coding	YES	CCDS3643.1			202/2796									ovary(3)|pancreas(1)	4	c.(202-204)CCT>GCT			Superfamily_domains:SSF48726,Gene3D:2.60.40.10,hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF7	unc5C precursor				ENSP00000406022		16-Feb									COSM3409634	16-Feb	.		ENST00000453304	Transcript			apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	ENSG00000182168	g.chr4:96256705G>C	12569			MODERATE		3.16	medium	getma.org/?cm=msa&ty=f&p=UNC5C_HUMAN&rb=62&re=159&var=P68A	NA	getma.org/?cm=var&var=hg19,4,96256705,G,C&fts=all	P68A	--	--	1																																		UNC5C_uc010ilc.1_Missense_Mutation_p.P68A|UNC5C_uc003htq.2_Missense_Mutation_p.P68A	1	1		probably_damaging(0.987)	p.P68A	NM_003728	NP_003719		deleterious(0)	1	UNC5C_HUMAN	UNC5C	HGNC	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	Q4W5H4_HUMAN		2	356	-		Hepatocellular(203;0.114)	UPI000004E6A5	68			Extracellular (Potential).|Ig-like.		SNV	UNC5C,missense_variant,p.Pro68Ala,ENST00000453304,NM_003728.3;UNC5C,missense_variant,p.Pro68Ala,ENST00000513796,;UNC5C,missense_variant,p.Pro68Ala,ENST00000506749,;UNC5C,missense_variant,p.Pro68Ala,ENST00000504962,;	uc003htp.1	c.202C>G	551/9875	4	4			c.202C>G						4	SNP	c.(202-204)CCT>GCT	45	45			ovary(3)|pancreas(1)	4	Broad	unc5C precursor			96256705		0.418	ENSG00000182168	16741	g.chr4:96256705G>C	apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity							-29.508411	KEEP	2	1	-1	77	73	2	1	-1	6.919551	77	73	0.021127	1	0	0	0	0	1	0	0	0	--	--		0	C			UNC5C_uc010ilc.1_Missense_Mutation_p.P68A|UNC5C_uc003htq.2_Missense_Mutation_p.P68A	218	GBM-28-5209-TP	p.P68A	G	GCTTCTTCAGGCTCAATAAGG	NM_003728	NP_003719	96256705	O95185	UNC5C_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	2	356	-	C	C		Hepatocellular(203;0.114)	Missense_Mutation	68			Extracellular (Potential).|Ig-like.			
UNC5C	0	broad.mit.edu	GRCh37	4	96090460	96090460	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2638-01	TCGA-32-2638-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000453304.1:c.2721C>T	p.Ser907=	p.S907=	ENST00000453304	NM_003728.3	907	agC/agT	0			1			A	S	uc003htp.1	protein_coding	YES	CCDS3643.1			2721/2796									ovary(3)|pancreas(1)	4	c.(2719-2721)AGC>AGT			Superfamily_domains:SSF47986,SMART_domains:SM00005,Gene3D:1.10.533.10,Pfam_domain:PF00531,hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF7	unc5C precursor				ENSP00000406022		16/16									COSM3409632	16/16	.		ENST00000453304	Transcript			apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	ENSG00000182168	g.chr4:96090460G>A	12569			LOW								--	--	1																																		uc003hto.2_5'Flank	1	1			p.S907S	NM_003728	NP_003719			1	UNC5C_HUMAN	UNC5C	HGNC	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	Q4W5H4_HUMAN		16	2875	-		Hepatocellular(203;0.114)	UPI000004E6A5	907			Cytoplasmic (Potential).|Death.		SNV	UNC5C,synonymous_variant,p.=,ENST00000453304,NM_003728.3;	uc003htp.1	c.2721C>T	3070/9875	2	2			c.2721C>T						4	SNP	c.(2719-2721)AGC>AGT	36	36			ovary(3)|pancreas(1)	4	Broad	unc5C precursor			96090460		0.483	ENSG00000182168	16741	g.chr4:96090460G>A	apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity							214.187916	KEEP	48	32	-1	64	44	48	32	-1	214.911405	64	44	0.431034	1	0	0	0	0	0	0	1	0	--	--		0	A			uc003hto.2_5'Flank	242	GBM-32-2638-TP	p.S907S	G	CTGCCAGCATGCTCAGGTTTC	NM_003728	NP_003719	96090460	O95185	UNC5C_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	16	2875	-	A	A		Hepatocellular(203;0.114)	Silent	907			Cytoplasmic (Potential).|Death.			
UNC5CL	222643	broad.mit.edu	GRCh37	6	40996138	40996138	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0648-01	TCGA-06-0648-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000244565.3:c.1531G>A	p.Gly511Ser	p.G511S	ENST00000244565	NM_173561.2	511	Ggc/Agc	0			1			T	G/S	uc003opi.2	protein_coding	YES	CCDS4847.1			1531/1557									ovary(2)	2	c.(1531-1533)GGC>AGC			hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF39	unc-5 homolog C-like				ENSP00000244565		9-Sep									COSM3411092	9-Sep	.		ENST00000244565	Transcript			signal transduction	cytoplasm|integral to membrane		ENSG00000124602	g.chr6:40996138C>T	21203			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=UN5CL_HUMAN&rb=462&re=518&var=G511S	NA	getma.org/?cm=var&var=hg19,6,40996138,C,T&fts=all	G511S	--	--	1																																OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1	1		benign(0.009)	p.G511S	NM_173561	NP_775832		tolerated_low_confidence(0.09)	1	UN5CL_HUMAN	UNC5CL	HGNC	Q8IV45	UN5CL_HUMAN			H8YHX0_HUMAN		9	1620	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		UPI00001609DB	511			Cytoplasmic (Potential).		SNV	UNC5CL,missense_variant,p.Gly511Ser,ENST00000244565,NM_173561.2;UNC5CL,missense_variant,p.Gly511Ser,ENST00000373164,;UNC5CL,non_coding_transcript_exon_variant,,ENST00000470102,;	uc003opi.2	c.1531G>A	1620/2986	1	1			c.1531G>A						6	SNP	c.(1531-1533)GGC>AGC	13	13			ovary(2)	2	Broad	unc-5 homolog C-like			40996138		0.687	ENSG00000124602	16742	g.chr6:40996138C>T	signal transduction	cytoplasm|integral to membrane								18.743129	KEEP	1	6	-1	7	6	1	6	-1	19.316587	7	6	0.315789	1	0	0	0	0	1	0	0	0	--	--		0	T	OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		61	GBM-06-0648-TP	p.G511S	C	AGCTCCAGGCCCTGGTTATCC	NM_173561	NP_775832	40996138	Q8IV45	UN5CL_HUMAN	0			9	1620	-	T	T	Ovarian(28;0.0418)|Colorectal(47;0.196)		Missense_Mutation	511			Cytoplasmic (Potential).			
UNC5CL	222643		GRCh37	6	40996200	40996200	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000244565.3:c.1469A>G	p.Tyr490Cys	p.Y490C	ENST00000244565	NM_173561.2	490	tAc/tGc	0																																																																																																																																																																																																																																												
UNC5D	0	broad.mit.edu	GRCh37	8	35407016	35407016	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-12-0692-01	TCGA-12-0692-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000404895.2:c.310G>C	p.Asp104His	p.D104H	ENST00000404895	NM_080872.2	104	Gac/Cac	0			1			C	D/H	uc003xjr.1	protein_coding	YES	CCDS6093.2			310/2862									upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6	c.(310-312)GAC>CAC			Gene3D:2.60.40.10,hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF5,Superfamily_domains:SSF48726	unc-5 homolog D precursor				ENSP00000385143		17-Feb									COSM3412986,COSM3412985	17-Feb	.		ENST00000404895	Transcript			apoptosis|axon guidance	integral to membrane	receptor activity	ENSG00000156687	g.chr8:35407016G>C	18634			MODERATE		3.165	medium	getma.org/?cm=msa&ty=f&p=UNC5D_HUMAN&rb=54&re=151&var=D104H	getma.org/pdb.php?prot=UNC5D_HUMAN&from=54&to=151&var=D104H	getma.org/?cm=var&var=hg19,8,35407016,G,C&fts=all	D104H	--	--	1																																		UNC5D_uc003xjs.1_Missense_Mutation_p.D99H	1,1	1		probably_damaging(0.965)	p.D104H	NM_080872	NP_543148		deleterious(0)	1,1	UNC5D_HUMAN	UNC5D	HGNC	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)			2	638	+			UPI00001D6915	104			Extracellular (Potential).|Ig-like.		SNV	UNC5D,missense_variant,p.Asp104His,ENST00000287272,;UNC5D,missense_variant,p.Asp99His,ENST00000453357,;UNC5D,missense_variant,p.Asp104His,ENST00000416672,;UNC5D,missense_variant,p.Asp104His,ENST00000404895,NM_080872.2;UNC5D,missense_variant,p.Asp104His,ENST00000420357,;	uc003xjr.1	c.310G>C	638/3252	3	3			c.310G>C						8	SNP	c.(310-312)GAC>CAC	4	4			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6	Broad	unc-5 homolog D precursor			35407016		0.522	ENSG00000156687	16743	g.chr8:35407016G>C	apoptosis|axon guidance	integral to membrane	receptor activity							5.166047	KEEP	1	3	-1	23	19	1	3	-1	12.329662	23	19	0.093023	1	0	0	0	0	1	0	0	0	--	--		0	C			UNC5D_uc003xjs.1_Missense_Mutation_p.D99H	122	GBM-12-0692-TP	p.D104H	G	AGAGACTCTGGACGAGAGCTC	NM_080872	NP_543148	35407016	Q6UXZ4	UNC5D_HUMAN	0		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	2	638	+	C	C			Missense_Mutation	104			Extracellular (Potential).|Ig-like.			
UNC79	57578	broad.mit.edu	GRCh37	14	94173118	94173118	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0122-01	TCGA-06-0122-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256339.4:c.7245G>C	p.Arg2415Ser	p.R2415S	ENST00000256339	NM_020818.3	2415	agG/agC	0			1			C	R/S	uc001ybv.1	protein_coding					7776/7908									ovary(10)|skin(4)|large_intestine(3)	17	c.(7309-7311)AGG>AGC			hmmpanther:PTHR21696,hmmpanther:PTHR21696:SF1	hypothetical protein LOC57578				ENSP00000376858		50/50									COSM2149225,COSM2149226	50/50	.		ENST00000393151	Transcript				integral to membrane		ENSG00000133958	g.chr14:94173118G>C	19966			MODERATE		0.755	neutral	getma.org/?cm=msa&ty=f&p=UNC79_HUMAN&rb=2001&re=2634&var=R2592S	NA	getma.org/?cm=var&var=hg19,14,94173118,G,C&fts=all	R2592S	--	--	1																																		KIAA1409_uc001ybs.1_Missense_Mutation_p.R2415S	1,1			benign(0.167)	p.R2437S	NM_020818	NP_065869		deleterious(0.04)	1,1	UNC79_HUMAN	UNC79	HGNC	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)			48	7394	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	UPI00021CF3DC	2592					SNV	UNC79,missense_variant,p.Arg2614Ser,ENST00000553484,;UNC79,missense_variant,p.Arg2553Ser,ENST00000555664,;UNC79,missense_variant,p.Arg2415Ser,ENST00000256339,NM_020818.3;UNC79,missense_variant,p.Arg2592Ser,ENST00000393151,;UNC79,non_coding_transcript_exon_variant,,ENST00000554549,;	uc001ybv.1	c.7311G>C	7776/7908	4	4			c.7311G>C						14	SNP	c.(7309-7311)AGG>AGC	45	45			ovary(10)|skin(4)|large_intestine(3)	17	Broad	hypothetical protein LOC57578			94173118		0.567	ENSG00000133958	8091	g.chr14:94173118G>C		integral to membrane				1186			1186	39.052154	KEEP	15	5	-1	38	36	15	5	-1	45.750662	38	36	0.2	1	0	0	0	0	1	0	0	0	--	--		0	C			KIAA1409_uc001ybs.1_Missense_Mutation_p.R2415S	10	GBM-06-0122-TP	p.R2437S	G	ACAGCCTAAGGACGCTGCCGG	NM_020818	NP_065869	94173118	Q9P2D8	UNC79_HUMAN	0		Epithelial(152;0.188)	48	7394	+	C	C		all_cancers(154;0.0354)|all_epithelial(191;0.216)	Missense_Mutation	2592						
UNC79	57578	broad.mit.edu	GRCh37	14	94173139	94173139	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0122-01	TCGA-06-0122-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256339.4:c.7266G>C	p.Gln2422His	p.Q2422H	ENST00000256339	NM_020818.3	2422	caG/caC	0			1			C	Q/H	uc001ybv.1	protein_coding					7797/7908									ovary(10)|skin(4)|large_intestine(3)	17	c.(7330-7332)CAG>CAC			hmmpanther:PTHR21696,hmmpanther:PTHR21696:SF1	hypothetical protein LOC57578				ENSP00000376858		50/50									COSM2149217,COSM2149218	50/50	.		ENST00000393151	Transcript				integral to membrane		ENSG00000133958	g.chr14:94173139G>C	19966			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=UNC79_HUMAN&rb=2001&re=2634&var=Q2599H	NA	getma.org/?cm=var&var=hg19,14,94173139,G,C&fts=all	Q2599H	--	--	1																																		KIAA1409_uc001ybs.1_Missense_Mutation_p.Q2422H	1,1			probably_damaging(0.978)	p.Q2444H	NM_020818	NP_065869		tolerated(0.11)	1,1	UNC79_HUMAN	UNC79	HGNC	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)			48	7415	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	UPI00021CF3DC	2599					SNV	UNC79,missense_variant,p.Gln2621His,ENST00000553484,;UNC79,missense_variant,p.Gln2560His,ENST00000555664,;UNC79,missense_variant,p.Gln2422His,ENST00000256339,NM_020818.3;UNC79,missense_variant,p.Gln2599His,ENST00000393151,;UNC79,non_coding_transcript_exon_variant,,ENST00000554549,;	uc001ybv.1	c.7332G>C	7797/7908	3	3			c.7332G>C						14	SNP	c.(7330-7332)CAG>CAC	57	57			ovary(10)|skin(4)|large_intestine(3)	17	Broad	hypothetical protein LOC57578			94173139		0.577	ENSG00000133958	8091	g.chr14:94173139G>C		integral to membrane				1186			1186	49.510542	KEEP	15	7	-1	39	29	15	7	-1	54.321116	39	29	0.236842	1	0	0	0	0	1	0	0	0	--	--		0	C			KIAA1409_uc001ybs.1_Missense_Mutation_p.Q2422H	10	GBM-06-0122-TP	p.Q2444H	G	GCTCGGGCCAGAGCAGTGCTG	NM_020818	NP_065869	94173139	Q9P2D8	UNC79_HUMAN	0		Epithelial(152;0.188)	48	7415	+	C	C		all_cancers(154;0.0354)|all_epithelial(191;0.216)	Missense_Mutation	2599						
UNC79	0	broad.mit.edu	GRCh37	14	94103593	94103593	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6700-01	TCGA-06-6700-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393151.2:c.5865C>T	p.Asn1955=	p.N1955=	ENST00000393151		1955	aaC/aaT	0			1			T	N	uc001ybv.1	protein_coding					5865/7908									ovary(10)|skin(4)|large_intestine(3)	17	c.(5398-5400)AAC>AAT			hmmpanther:PTHR21696,hmmpanther:PTHR21696:SF1	hypothetical protein LOC57578				ENSP00000376858		33/50	4.12E-05		8.67E-05			6.01E-05			rs745532875,COSM3401533,COSM3401534	33/50	.		ENST00000393151	Transcript				integral to membrane		ENSG00000133958	g.chr14:94103593C>T	19966			LOW								--	--	1																																		KIAA1409_uc001ybs.1_Silent_p.N1778N	0,1,1				p.N1800N	NM_020818	NP_065869			0,1,1	UNC79_HUMAN	UNC79	HGNC	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)			31	5483	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	UPI00021CF3DC	1955					SNV	UNC79,synonymous_variant,p.=,ENST00000553484,;UNC79,synonymous_variant,p.=,ENST00000555664,;UNC79,synonymous_variant,p.=,ENST00000256339,NM_020818.3;UNC79,synonymous_variant,p.=,ENST00000393151,;	uc001ybv.1	c.5400C>T	5865/7908	1	1			c.5400C>T						14	SNP	c.(5398-5400)AAC>AAT	5	5			ovary(10)|skin(4)|large_intestine(3)	17	Broad	hypothetical protein LOC57578			94103593		0.005	ENSG00000133958	8091	g.chr14:94103593C>T		integral to membrane				1186			1186	-0.740991	KEEP	4	4	-1	52	44	4	4	-1	15.398662	52	44	0.078652	1	0	0	0	0	0	0	1	0	--	--		0	T			KIAA1409_uc001ybs.1_Silent_p.N1778N	114	GBM-06-6700-TP	p.N1800N	C	gccagtgtaacgtgccaacgt	NM_020818	NP_065869	94103593	Q9P2D8	UNC79_HUMAN	0		Epithelial(152;0.188)	31	5483	+	T	T		all_cancers(154;0.0354)|all_epithelial(191;0.216)	Silent	1955						
UNC79	0	broad.mit.edu	GRCh37	14	94041533	94041533	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-19-2619-01	TCGA-19-2619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393151.2:c.2200G>C	p.Ala734Pro	p.A734P	ENST00000393151		734	Gca/Cca	0			1			C	A/P	uc001ybv.1	protein_coding					2200/7908									ovary(10)|skin(4)|large_intestine(3)	17	c.(1669-1671)GCA>CCA			hmmpanther:PTHR21696,hmmpanther:PTHR21696:SF1	hypothetical protein LOC57578				ENSP00000376858		17/50									COSM2156126,COSM2156127	17/50	.		ENST00000393151	Transcript				integral to membrane		ENSG00000133958	g.chr14:94041533G>C	19966			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=UNC79_HUMAN&rb=1&re=939&var=A734P	NA	getma.org/?cm=var&var=hg19,14,94041533,G,C&fts=all	A734P	--	--	1																																		KIAA1409_uc001ybs.1_Missense_Mutation_p.A557P	1,1			possibly_damaging(0.51)	p.A557P	NM_020818	NP_065869		tolerated(0.39)	1,1	UNC79_HUMAN	UNC79	HGNC	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)			14	1752	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	UPI00021CF3DC	734					SNV	UNC79,missense_variant,p.Ala734Pro,ENST00000553484,;UNC79,missense_variant,p.Ala734Pro,ENST00000555664,;UNC79,missense_variant,p.Ala557Pro,ENST00000256339,NM_020818.3;UNC79,missense_variant,p.Ala734Pro,ENST00000393151,;	uc001ybv.1	c.1669G>C	2200/7908	3	3			c.1669G>C						14	SNP	c.(1669-1671)GCA>CCA	8	8			ovary(10)|skin(4)|large_intestine(3)	17	Broad	hypothetical protein LOC57578			94041533		0.373	ENSG00000133958	8091	g.chr14:94041533G>C		integral to membrane				1186			1186	75.174402	KEEP	12	14	-1	28	32	12	14	-1	77.201303	28	32	0.324324	1	0	0	0	0	1	0	0	0	--	--		0	C			KIAA1409_uc001ybs.1_Missense_Mutation_p.A557P	161	GBM-19-2619-TP	p.A557P	G	AGGGAACCTTGCATCTCGAAG	NM_020818	NP_065869	94041533	Q9P2D8	UNC79_HUMAN	0		Epithelial(152;0.188)	14	1752	+	C	C		all_cancers(154;0.0354)|all_epithelial(191;0.216)	Missense_Mutation	734						
UNC79	0	broad.mit.edu	GRCh37	14	94109960	94109960	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-2518-01	TCGA-27-2518-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393151.2:c.6078C>T	p.Ala2026=	p.A2026=	ENST00000393151		2026	gcC/gcT	0			1			T	A	uc001ybv.1	protein_coding					6078/7908									ovary(10)|skin(4)|large_intestine(3)	17	c.(5611-5613)GCC>GCT			hmmpanther:PTHR21696,hmmpanther:PTHR21696:SF1,Superfamily_domains:SSF48371	hypothetical protein LOC57578				ENSP00000376858		35/50									COSM3401535,COSM3401536	35/50	.		ENST00000393151	Transcript				integral to membrane		ENSG00000133958	g.chr14:94109960C>T	19966			LOW								--	--	1																																		KIAA1409_uc001ybs.1_Silent_p.A1849A	1,1				p.A1871A	NM_020818	NP_065869			1,1	UNC79_HUMAN	UNC79	HGNC	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)			33	5696	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	UPI00021CF3DC	2026					SNV	UNC79,synonymous_variant,p.=,ENST00000553484,;UNC79,synonymous_variant,p.=,ENST00000555664,;UNC79,synonymous_variant,p.=,ENST00000256339,NM_020818.3;UNC79,synonymous_variant,p.=,ENST00000393151,;	uc001ybv.1	c.5613C>T	6078/7908	2	2			c.5613C>T						14	SNP	c.(5611-5613)GCC>GCT	22	22			ovary(10)|skin(4)|large_intestine(3)	17	Broad	hypothetical protein LOC57578			94109960		0.498	ENSG00000133958	8091	g.chr14:94109960C>T		integral to membrane				1186			1186	-37.459248	KEEP	1	3	-1	87	102	1	3	-1	8.094312	87	102	0.022346	1	0	0	0	0	0	0	1	0	--	--		0	T			KIAA1409_uc001ybs.1_Silent_p.A1849A	198	GBM-27-2518-TP	p.A1871A	C	TTGGGCTAGCCATCGTGGTCC	NM_020818	NP_065869	94109960	Q9P2D8	UNC79_HUMAN	0		Epithelial(152;0.188)	33	5696	+	T	T		all_cancers(154;0.0354)|all_epithelial(191;0.216)	Silent	2026						
UNC93A	0	broad.mit.edu	GRCh37	6	167709567	167709567	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01	TCGA-28-2502-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000230256.3:c.317C>T	p.Pro106Leu	p.P106L	ENST00000230256	NM_018974.3	106	cCg/cTg	0		T:0	1	T:0		T	P/L	uc003qvq.2	protein_coding	YES	CCDS5300.1			317/1374										0	c.(316-318)CCG>CTG			Transmembrane_helices:TMhelix,hmmpanther:PTHR19444,hmmpanther:PTHR19444:SF14,Pfam_domain:PF05978,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473	unc-93 homolog A isoform 1		T:0.001		ENSP00000230256	T:0	8-Mar	7.41E-05	0.000192	0.000432	0.000116				6.06E-05	rs202053224,COSM3410786	8-Mar	common_variant		ENST00000230256	Transcript		T:0.0002		integral to membrane|plasma membrane		ENSG00000112494	g.chr6:167709567C>T	12570			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=UN93A_HUMAN&rb=11&re=168&var=P106L	NA	getma.org/?cm=var&var=hg19,6,167709567,C,T&fts=all	P106L	--	--	1																																		UNC93A_uc003qvr.2_Missense_Mutation_p.P106L	0,1	1		possibly_damaging(0.751)	p.P106L	NM_018974	NP_061847	T:0	deleterious(0.02)	0,1	UN93A_HUMAN	UNC93A	HGNC	Q86WB7	UN93A_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	D6RFH7_HUMAN		3	492	+		Breast(66;7.62e-05)|Ovarian(120;0.105)	UPI0000062351	106			Helical; (Potential).		SNV	UNC93A,missense_variant,p.Pro106Leu,ENST00000230256,NM_018974.3;UNC93A,missense_variant,p.Pro106Leu,ENST00000366829,NM_001143947.1;UNC93A,missense_variant,p.Pro106Leu,ENST00000503433,;UNC93A,non_coding_transcript_exon_variant,,ENST00000366830,;UNC93A,non_coding_transcript_exon_variant,,ENST00000504706,;	uc003qvq.2	c.317C>T	492/2116	1	1			c.317C>T						6	SNP	c.(316-318)CCG>CTG	10	10				0	Broad	unc-93 homolog A isoform 1			167709567		0.557	ENSG00000112494	16744	g.chr6:167709567C>T		integral to membrane|plasma membrane								102.413156	KEEP	25	22	-1	70	79	25	22	-1	112.253473	70	79	0.245509	1	0	0	0	0	1	0	0	0	--	--		0	T			UNC93A_uc003qvr.2_Missense_Mutation_p.P106L	210	GBM-28-2502-TP	p.P106L	C	GGGGCCGCCCCGCTGTGGTCT	NM_018974	NP_061847	167709567	Q86WB7	UN93A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	492	+	T	T		Breast(66;7.62e-05)|Ovarian(120;0.105)	Missense_Mutation	106			Helical; (Potential).			
UNC93B1	0	broad.mit.edu	GRCh37	11	67765220	67765220	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0781-01	TCGA-14-0781-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000227471.2:c.831G>A	p.Arg277=	p.R277=	ENST00000227471	NM_030930.2	277	cgG/cgA	0			1			T	R	uc001omw.1	protein_coding	YES				831/1791										0	c.(829-831)CGG>CGA			hmmpanther:PTHR19444:SF3,hmmpanther:PTHR19444	unc-93 homolog B1				ENSP00000227471		12-Jul									COSM3398083	12-Jul	.		ENST00000227471	Transcript	1		innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome		ENSG00000110057	g.chr11:67765220C>T	13481			LOW								--	--	1																																			1	1			p.R277R	NM_030930	NP_112192			1	UN93B_HUMAN	UNC93B1	HGNC	Q9H1C4	UN93B_HUMAN			E9PNE5_HUMAN		7	911	-			UPI000013C8B8	277					SNV	UNC93B1,synonymous_variant,p.=,ENST00000227471,NM_030930.2;UNC93B1,downstream_gene_variant,,ENST00000528423,;UNC93B1,non_coding_transcript_exon_variant,,ENST00000530331,;UNC93B1,non_coding_transcript_exon_variant,,ENST00000533966,;UNC93B1,non_coding_transcript_exon_variant,,ENST00000525743,;UNC93B1,downstream_gene_variant,,ENST00000533424,;UNC93B1,downstream_gene_variant,,ENST00000528096,;UNC93B1,downstream_gene_variant,,ENST00000524455,;UNC93B1,downstream_gene_variant,,ENST00000530138,;UNC93B1,downstream_gene_variant,,ENST00000531152,;UNC93B1,upstream_gene_variant,,ENST00000525368,;	uc001omw.1	c.831G>A	911/2313	2	2			c.831G>A						11	SNP	c.(829-831)CGG>CGA	29	29				0	Broad	unc-93 homolog B1			67765220		0.652	ENSG00000110057	16745	g.chr11:67765220C>T	innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome								-1.810052	KEEP	1	2	-1	13	32	1	2	-1	6.409078	13	32	0.069767	1	0	0	0	0	0	0	1	0	--	--		0	T				133	GBM-14-0781-TP	p.R277R	C	GCGGGAGCGTCCGCAGAACCG	NM_030930	NP_112192	67765220	Q9H1C4	UN93B_HUMAN	0			7	911	-	T	T			Silent	277						
UNKL	64718	broad.mit.edu	GRCh37	16	1417320	1417320	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01	TCGA-06-1804-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389221.4:c.1810G>A	p.Glu604Lys	p.E604K	ENST00000389221	NM_001193388.3	604	Gag/Aag	0			1			T	E/K	uc010brn.1	protein_coding	YES				1810/2043										0	c.(940-942)GAG>AAG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14493:SF37,hmmpanther:PTHR14493	SubName: Full=Putative ubiquitin-protein ligase;          EC=6.3.2.19; Flags: Fragment;				ENSP00000373873		14/15									COSM3402082,COSM3402083	14/15	.		ENST00000389221	Transcript				cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding	ENSG00000059145	g.chr16:1417320C>T	14184			MODERATE		2.545	medium	getma.org/?cm=msa&ty=f&p=UNKL_HUMAN&rb=510&re=634&var=E604K	NA	getma.org/?cm=var&var=hg19,16,1417320,C,T&fts=all	E604K	--	--	1																																		UNKL_uc002cln.2_Missense_Mutation_p.E106K|UNKL_uc002clo.2_Missense_Mutation_p.E103K|UNKL_uc002clp.2_Missense_Mutation_p.E106K	1,1	1		benign(0.333)	p.E314K				deleterious(0)	1,1	UNKL_HUMAN	UNKL	HGNC	Q9H9P5	UNKL_HUMAN			D6RA68_HUMAN		8	958	-		Hepatocellular(780;0.0893)	UPI0001AE676E	604			Potential.		SNV	UNKL,missense_variant,p.Glu604Lys,ENST00000389221,NM_001193388.3;UNKL,missense_variant,p.Glu103Lys,ENST00000248104,NM_001276414.1;UNKL,missense_variant,p.Glu106Lys,ENST00000403703,;UNKL,missense_variant,p.Glu103Lys,ENST00000391893,;UNKL,missense_variant,p.Glu607Lys,ENST00000508903,;UNKL,missense_variant,p.Glu106Lys,ENST00000397464,NM_001193389.1;UNKL,missense_variant,p.Glu106Lys,ENST00000402641,;GNPTG,downstream_gene_variant,,ENST00000204679,NM_032520.4;UNKL,downstream_gene_variant,,ENST00000513783,;UNKL,downstream_gene_variant,,ENST00000515195,;UNKL,upstream_gene_variant,,ENST00000562537,;UNKL,non_coding_transcript_exon_variant,,ENST00000511095,;GNPTG,downstream_gene_variant,,ENST00000527076,;GNPTG,downstream_gene_variant,,ENST00000527168,;GNPTG,downstream_gene_variant,,ENST00000529957,;	uc010brn.1	c.940G>A	1810/5078	2	2			c.940G>A						16	SNP	c.(940-942)GAG>AAG	37	37				0	Broad	SubName: Full=Putative ubiquitin-protein ligase;          EC=6.3.2.19; Flags: Fragment;			1417320		0.667	ENSG00000059145	16748	g.chr16:1417320C>T		cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding							22.225396	KEEP	6	2	-1	4	3	6	2	-1	22.24206	4	3	0.538462	1	0	0	0	0	1	0	0	0	--	--		0	T			UNKL_uc002cln.2_Missense_Mutation_p.E106K|UNKL_uc002clo.2_Missense_Mutation_p.E103K|UNKL_uc002clp.2_Missense_Mutation_p.E106K	79	GBM-06-1804-TP	p.E314K	C	TCCTTGGCCTCCTGCGCCTCT			1417320	Q9H9P5	UNKL_HUMAN	0			8	958	-	T	T		Hepatocellular(780;0.0893)	Missense_Mutation	604			Potential.			
UNKL	0	broad.mit.edu	GRCh37	16	1449391	1449391	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01	TCGA-16-1045-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389221.4:c.718C>T	p.Arg240Trp	p.R240W	ENST00000389221	NM_001193388.3	240	Cgg/Tgg	0			1			A	R/W	uc010bro.1	protein_coding	YES				718/2043										0	c.(718-720)CGG>TGG			Low_complexity_(Seg):seg,hmmpanther:PTHR14493:SF37,hmmpanther:PTHR14493	unkempt homolog (Drosophila)-like isoform 2				ENSP00000373873		15-May	1.66E-05					4.59E-05			rs780500079,COSM3402086,COSM3402085,COSM3402087	15-May	.		ENST00000389221	Transcript				cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding	ENSG00000059145	g.chr16:1449391G>A	14184			MODERATE		2.955	medium	getma.org/?cm=msa&ty=f&p=UNKL_HUMAN&rb=201&re=284&var=R240W	NA	getma.org/?cm=var&var=hg19,16,1449391,G,A&fts=all	R240W	--	--	1																																		UNKL_uc002clq.2_Missense_Mutation_p.R240W	0,1,1,1	1		probably_damaging(0.96)	p.R240W	NM_001037125	NP_001032202		deleterious(0)	0,1,1,1	UNKL_HUMAN	UNKL	HGNC	Q9H9P5	UNKL_HUMAN			D6RA68_HUMAN		5	726	-		Hepatocellular(780;0.0893)	UPI0001AE676E	240					SNV	UNKL,missense_variant,p.Arg240Trp,ENST00000389221,NM_001193388.3;UNKL,missense_variant,p.Arg240Trp,ENST00000508903,;UNKL,missense_variant,p.Arg343Trp,ENST00000397462,;UNKL,missense_variant,p.Arg240Trp,ENST00000301712,NM_001037125.3;UNKL,downstream_gene_variant,,ENST00000503648,;UNKL,downstream_gene_variant,,ENST00000561783,;UNKL,3_prime_UTR_variant,,ENST00000382757,;UNKL,non_coding_transcript_exon_variant,,ENST00000502438,;UNKL,non_coding_transcript_exon_variant,,ENST00000509981,;UNKL,downstream_gene_variant,,ENST00000566707,;	uc010bro.1	c.718C>T	718/5078	2	2			c.718C>T						16	SNP	c.(718-720)CGG>TGG	27	27				0	Broad	unkempt homolog (Drosophila)-like isoform 2			1449391		0.701	ENSG00000059145	16748	g.chr16:1449391G>A		cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding							6.115876	KEEP	6	1	-1	11	9	6	1	-1	7.578958	11	9	0.1875	1	0	0	0	0	1	0	0	0	--	--		0	A			UNKL_uc002clq.2_Missense_Mutation_p.R240W	157	GBM-16-1045-TP	p.R240W	G	TGGAACCGCCGGGGGTTGCGC	NM_001037125	NP_001032202	1449391	Q9H9P5	UNKL_HUMAN	0			5	726	-	A	A		Hepatocellular(780;0.0893)	Missense_Mutation	240						
UPF1	0	broad.mit.edu	GRCh37	19	18976409	18976409	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs139317612		TCGA-19-2623-01	TCGA-19-2623-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000599848.1:c.3092G>A	p.Arg1031His	p.R1031H	ENST00000599848		1031	cGc/cAc	0			1			A	R/H	uc002nkg.2	protein_coding					3092/3390									ovary(1)|central_nervous_system(1)	2	c.(3091-3093)CGC>CAC			Low_complexity_(Seg):seg,hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF340	regulator of nonsense transcripts 1				ENSP00000470142		22/24									COSM3403973,COSM3403974	22/24	.		ENST00000599848	Transcript			cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding	ENSG00000005007	g.chr19:18976409G>A	9962			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=RENT1_HUMAN&rb=889&re=1088&var=R1031H	NA	getma.org/?cm=var&var=hg19,19,18976409,G,A&fts=all	R1031H	--	--	1																																		UPF1_uc002nkf.2_Missense_Mutation_p.R1020H|UPF1_uc002nkh.2_Missense_Mutation_p.R275H	1,1			benign(0.151)	p.R1031H	NM_002911	NP_002902		tolerated(0.37)	1,1	RENT1_HUMAN	UPF1	HGNC	Q92900	RENT1_HUMAN			B3KY55_HUMAN		22	3367	+			UPI00001344ED	1031					SNV	UPF1,missense_variant,p.Arg1020His,ENST00000262803,NM_002911.3;UPF1,missense_variant,p.Arg1031His,ENST00000599848,;CERS1,downstream_gene_variant,,ENST00000427170,NM_021267.3,NM_001492.4;GDF1,downstream_gene_variant,,ENST00000247005,;UPF1,non_coding_transcript_exon_variant,,ENST00000596842,;UPF1,non_coding_transcript_exon_variant,,ENST00000600689,;	uc002nkg.2	c.3092G>A	3301/5311	1	1			c.3092G>A						19	SNP	c.(3091-3093)CGC>CAC	62	62			ovary(1)|central_nervous_system(1)	2	Broad	regulator of nonsense transcripts 1			18976409		0.642	ENSG00000005007	16750	g.chr19:18976409G>A	cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding							178.851951	KEEP	32	29	-1	54	61	32	29	-1	182.153539	54	61	0.352601	1	0	0	0	0	1	0	0	0	--	--		0	A			UPF1_uc002nkf.2_Missense_Mutation_p.R1020H|UPF1_uc002nkh.2_Missense_Mutation_p.R275H	163	GBM-19-2623-TP	p.R1031H	G	CGTGGGGGACGCCAGAAGAAC	NM_002911	NP_002902	18976409	Q92900	RENT1_HUMAN	0			22	3367	+	A	A			Missense_Mutation	1031						
UPF1	0	broad.mit.edu	GRCh37	19	18968250	18968250	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000599848.1:c.2123G>A	p.Arg708His	p.R708H	ENST00000599848		708	cGc/cAc	0			1			A	R/H	uc002nkg.2	protein_coding					2123/3390									ovary(1)|central_nervous_system(1)	2	c.(2122-2124)CGC>CAC			hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF340,Gene3D:3.40.50.300,Pfam_domain:PF13087,Superfamily_domains:SSF52540	regulator of nonsense transcripts 1				ENSP00000470142		15/24									COSM3403971,COSM3403972	15/24	.		ENST00000599848	Transcript			cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding	ENSG00000005007	g.chr19:18968250G>A	9962			MODERATE		2.345	medium	getma.org/?cm=msa&ty=f&p=RENT1_HUMAN&rb=691&re=888&var=R708H	getma.org/pdb.php?prot=RENT1_HUMAN&from=691&to=888&var=R708H	getma.org/?cm=var&var=hg19,19,18968250,G,A&fts=all	R708H	--	--	1																																		UPF1_uc002nkf.2_Missense_Mutation_p.R697H|UPF1_uc002nkh.2_5'Flank	1,1			probably_damaging(0.997)	p.R708H	NM_002911	NP_002902		deleterious(0)	1,1	RENT1_HUMAN	UPF1	HGNC	Q92900	RENT1_HUMAN			B3KY55_HUMAN		15	2398	+			UPI00001344ED	708					SNV	UPF1,missense_variant,p.Arg697His,ENST00000262803,NM_002911.3;UPF1,missense_variant,p.Arg708His,ENST00000599848,;UPF1,upstream_gene_variant,,ENST00000596842,;UPF1,downstream_gene_variant,,ENST00000594243,;UPF1,downstream_gene_variant,,ENST00000601689,;	uc002nkg.2	c.2123G>A	2332/5311	2	2			c.2123G>A						19	SNP	c.(2122-2124)CGC>CAC	33	33			ovary(1)|central_nervous_system(1)	2	Broad	regulator of nonsense transcripts 1			18968250		0.642	ENSG00000005007	16750	g.chr19:18968250G>A	cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding							40.123035	KEEP	8	9	-1	25	21	8	9	-1	42.251528	25	21	0.290909	1	0	0	0	0	1	0	0	0	--	--		0	A			UPF1_uc002nkf.2_Missense_Mutation_p.R697H|UPF1_uc002nkh.2_5'Flank	230	GBM-32-1979-TP	p.R708H	G	CGGCCCATCCGCCTGCAGGTC	NM_002911	NP_002902	18968250	Q92900	RENT1_HUMAN	0			15	2398	+	A	A			Missense_Mutation	708						
UPF3B	65109		GRCh37	X	118975081	118975084	+	frameshift_variant	Frame_Shift_Del	DEL	TCTG	TCTG	-			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000276201.2:c.762_765del	p.Asp254GlufsTer8	p.D254Efs*8	ENST00000276201	NM_080632.2	254	gaCAGA/ga	0																																																																																																																																																																																																																																												
UPK1A	0	broad.mit.edu	GRCh37	19	36159540	36159540	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs111275297		TCGA-41-3393-01	TCGA-41-3393-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000222275.2:c.269G>A	p.Arg90Gln	p.R90Q	ENST00000222275	NM_007000.3	90	cGg/cAg	0	A:0.0002	A:0.0008	1	A:0		A	R/Q	uc002oaw.2	protein_coding	YES	CCDS12470.1			269/777										0	c.(268-270)CGG>CAG			hmmpanther:PTHR19282:SF25,hmmpanther:PTHR19282,Pfam_domain:PF00335,Prints_domain:PR00259	uroplakin 1A		A:0	A:0.0001	ENSP00000222275	A:0	7-Feb	4.12E-05	0.000223		0.000135		3.43E-05			rs111275297,COSM3404136	7-Feb	.		ENST00000222275	Transcript		A:0.0002	epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity	ENSG00000105668	g.chr19:36159540G>A	12577			MODERATE		1.955	medium	getma.org/?cm=msa&ty=f&p=UPK1A_HUMAN&rb=15&re=257&var=R90Q	NA	getma.org/?cm=var&var=hg19,19,36159540,G,A&fts=all	R90Q	--	--	1																																		UPK1A_uc010eeh.2_Missense_Mutation_p.R90Q|uc002oax.1_Missense_Mutation_p.R3W	0,1	1		probably_damaging(1)	p.R90Q	NM_007000	NP_008931	A:0	deleterious(0)	0,1	UPK1A_HUMAN	UPK1A	HGNC	O00322	UPK1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)				2	269	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		UPI0000137CD9	90			Cytoplasmic (Potential).		SNV	UPK1A,missense_variant,p.Arg90Gln,ENST00000222275,NM_007000.3;UPK1A,missense_variant,p.Arg90Gln,ENST00000379013,NM_001281443.1;UPK1A-AS1,non_coding_transcript_exon_variant,,ENST00000443196,;RN7SL765P,downstream_gene_variant,,ENST00000580260,;	uc002oaw.2	c.269G>A	269/1223	1	1			c.269G>A						19	SNP	c.(268-270)CGG>CAG	61	61				0	Broad	uroplakin 1A			36159540		0.592	ENSG00000105668	16754	g.chr19:36159540G>A	epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity							26.432535	KEEP	6	9	-1	24	26	6	9	-1	29.621759	24	26	0.222222	1	0	0	0	0	1	0	0	0	--	--		0	A			UPK1A_uc010eeh.2_Missense_Mutation_p.R90Q|uc002oax.1_Missense_Mutation_p.R3W	255	GBM-41-3393-TP	p.R90Q	G	TGCCGCCGCCGGTCCATGGTC	NM_007000	NP_008931	36159540	O00322	UPK1A_HUMAN	0	LUSC - Lung squamous cell carcinoma(66;0.0515)		2	269	+	A	A	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		Missense_Mutation	90			Cytoplasmic (Potential).			
UPP1	0	broad.mit.edu	GRCh37	7	48146585	48146585	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-14-1823-01	TCGA-14-1823-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331803.4:c.552G>T	p.Lys184Asn	p.K184N	ENST00000331803	NM_001287426.1	184	aaG/aaT	0			1			T	K/N	uc003toj.2	protein_coding	YES	CCDS5507.1			552/933										0	c.(550-552)AAG>AAT			hmmpanther:PTHR21234,hmmpanther:PTHR21234:SF15,Gene3D:3.40.50.1580,Pfam_domain:PF01048,TIGRFAM_domain:TIGR01719,Superfamily_domains:SSF53167	uridine phosphorylase 1				ENSP00000330032		10-Aug									COSM3412115	10-Aug	.		ENST00000331803	Transcript			nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity	ENSG00000183696	g.chr7:48146585G>T	12576			MODERATE		1.35	low	getma.org/?cm=msa&ty=f&p=UPP1_HUMAN&rb=54&re=304&var=K184N	getma.org/pdb.php?prot=UPP1_HUMAN&from=54&to=304&var=K184N	getma.org/?cm=var&var=hg19,7,48146585,G,T&fts=all	K184N	--	--	1																																		UPP1_uc003tok.2_Missense_Mutation_p.K184N|UPP1_uc003tol.2_Missense_Mutation_p.K184N|UPP1_uc011kch.1_5'UTR|UPP1_uc003ton.2_Missense_Mutation_p.K47N|UPP1_uc003too.2_Missense_Mutation_p.K47N	1	1		benign(0.031)	p.K184N	NM_181597	NP_853628		tolerated(0.08)	1	UPP1_HUMAN	UPP1	HGNC	Q16831	UPP1_HUMAN			C9K0J2_HUMAN,C9JIP2_HUMAN,C9J486_HUMAN		8	1081	+			UPI0000137AC5	184					SNV	UPP1,missense_variant,p.Lys184Asn,ENST00000331803,NM_001287426.1;UPP1,missense_variant,p.Lys184Asn,ENST00000341253,NM_181597.1;UPP1,missense_variant,p.Lys184Asn,ENST00000395564,NM_003364.2;UPP1,missense_variant,p.Lys47Asn,ENST00000429491,;UPP1,downstream_gene_variant,,ENST00000436673,;UPP1,downstream_gene_variant,,ENST00000416681,;UPP1,non_coding_transcript_exon_variant,,ENST00000482015,;UPP1,3_prime_UTR_variant,,ENST00000457596,NM_001287428.1;UPP1,3_prime_UTR_variant,,ENST00000395560,NM_001287429.1;UPP1,3_prime_UTR_variant,,ENST00000444999,;UPP1,3_prime_UTR_variant,,ENST00000417464,;UPP1,non_coding_transcript_exon_variant,,ENST00000495446,;UPP1,downstream_gene_variant,,ENST00000421046,;	uc003toj.2	c.552G>T	1175/1932	2	2			c.552G>T						7	SNP	c.(550-552)AAG>AAT	32	32				0	Broad	uridine phosphorylase 1			48146585		0.537	ENSG00000183696	16759	g.chr7:48146585G>T	nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity							15.899915	KEEP	19	11	0.633333333	174	104	19	11	0.633333333	61.1651	174	104	0.099291	1	0	0	0	0	1	0	0	0	--	--		0	T			UPP1_uc003tok.2_Missense_Mutation_p.K184N|UPP1_uc003tol.2_Missense_Mutation_p.K184N|UPP1_uc011kch.1_5'UTR|UPP1_uc003ton.2_Missense_Mutation_p.K47N|UPP1_uc003too.2_Missense_Mutation_p.K47N	147	GBM-14-1823-TP	p.K184N	G	ACCTTAACAAGAAGCTGGTGC	NM_181597	NP_853628	48146585	Q16831	UPP1_HUMAN	0			8	1081	+	T	T			Missense_Mutation	184						
UPP2	151531	broad.mit.edu	GRCh37	2	158971751	158971751	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000605860.1:c.490G>A	p.Gly164Arg	p.G164R	ENST00000605860		164	Ggg/Agg	0			1			A	G/R	uc002tzp.2	protein_coding		CCDS2207.1			319/954										0	c.(319-321)GGG>AGG			Gene3D:3.40.50.1580,Pfam_domain:PF01048,hmmpanther:PTHR21234,hmmpanther:PTHR21234:SF13,Superfamily_domains:SSF53167,TIGRFAM_domain:TIGR01719	uridine phosphorylase 2 isoform a				ENSP00000005756		7-Mar	8.24E-06					1.50E-05			rs773369298,COSM3406962,COSM3406961	7-Mar	.		ENST00000005756	Transcript			nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity	ENSG00000007001	g.chr2:158971751G>A	23061			MODERATE		3.165	medium	getma.org/?cm=msa&ty=f&p=UPP2_HUMAN&rb=60&re=310&var=G107R	getma.org/pdb.php?prot=UPP2_HUMAN&from=60&to=310&var=G107R	getma.org/?cm=var&var=hg19,2,158971751,G,A&fts=all	G107R	--	--	1																																		UPP2_uc002tzo.2_Missense_Mutation_p.G164R	0,1,1			probably_damaging(0.996)	p.G107R	NM_173355	NP_775491		deleterious(0)	0,1,1	UPP2_HUMAN	UPP2	HGNC	O95045	UPP2_HUMAN					3	513	+			UPI0000073C90	107					SNV	UPP2,missense_variant,p.Gly164Arg,ENST00000605860,;UPP2,missense_variant,p.Gly164Arg,ENST00000409859,NM_001135098.1;UPP2,missense_variant,p.Gly107Arg,ENST00000005756,NM_173355.3;UPP2,intron_variant,,ENST00000460456,;	uc002tzp.2	c.319G>A	513/2224	1	1			c.319G>A						2	SNP	c.(319-321)GGG>AGG	64	64				0	Broad	uridine phosphorylase 2 isoform a			158971751		0.438	ENSG00000007001	16760	g.chr2:158971751G>A	nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity							75.750081	KEEP	11	21	-1	44	44	11	21	-1	81.251091	44	44	0.261682	1	0	0	0	0	1	0	0	0	--	--		0	A			UPP2_uc002tzo.2_Missense_Mutation_p.G164R	46	GBM-06-0209-TP	p.G107R	G	GTACAAAACCGGGCCTGTGCT	NM_173355	NP_775491	158971751	O95045	UPP2_HUMAN	0			3	513	+	A	A			Missense_Mutation	107						
UQCRC1	0	broad.mit.edu	GRCh37	3	48641675	48641675	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-26-5134-01	TCGA-26-5134-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000203407.5:c.617A>G	p.Glu206Gly	p.E206G	ENST00000203407	NM_003365.2	206	gAg/gGg	0			1			C	E/G	uc003cub.1	protein_coding	YES	CCDS2774.1			617/1443										0	c.(616-618)GAG>GGG			Gene3D:3.30.830.10,hmmpanther:PTHR11851,hmmpanther:PTHR11851:SF116,Superfamily_domains:SSF63411	ubiquinol-cytochrome c reductase core protein I	Atovaquone(DB01117)			ENSP00000203407		13-May									COSM2156984	13-May	.		ENST00000203407	Transcript			aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding	ENSG00000010256	g.chr3:48641675T>C	12585			MODERATE		2.415	medium	getma.org/?cm=msa&ty=f&p=QCR1_HUMAN&rb=176&re=239&var=E206G	getma.org/pdb.php?prot=QCR1_HUMAN&from=206&to=209&var=E206G	getma.org/?cm=var&var=hg19,3,48641675,T,C&fts=all	E206G	--	--	1																																		UQCRC1_uc003cua.1_Missense_Mutation_p.E91G|UQCRC1_uc003cuc.1_Missense_Mutation_p.E206G|UQCRC1_uc003cud.1_Missense_Mutation_p.E206G	1	1		benign(0)	p.E206G	NM_003365	NP_003356		deleterious(0.02)	1	QCR1_HUMAN	UQCRC1	HGNC	P31930	QCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	B4DZB9_HUMAN		5	662	-			UPI000006DFD4	206					SNV	UQCRC1,missense_variant,p.Glu206Gly,ENST00000203407,NM_003365.2;UQCRC1,3_prime_UTR_variant,,ENST00000415995,;UQCRC1,3_prime_UTR_variant,,ENST00000412343,;UQCRC1,non_coding_transcript_exon_variant,,ENST00000467690,;UQCRC1,non_coding_transcript_exon_variant,,ENST00000472438,;UQCRC1,upstream_gene_variant,,ENST00000480561,;UQCRC1,upstream_gene_variant,,ENST00000471189,;UQCRC1,downstream_gene_variant,,ENST00000463708,;UQCRC1,upstream_gene_variant,,ENST00000460105,;	uc003cub.1	c.617A>G	1034/1985	3	3			c.617A>G						3	SNP	c.(616-618)GAG>GGG	16	16				0	Broad	ubiquinol-cytochrome c reductase core protein I		Atovaquone(DB01117)	48641675		0.552	ENSG00000010256	16766	g.chr3:48641675T>C	aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding	NSCLC(81;1112 1427 27031 32409 45529)			NSCLC(81;1112 1427 27031 32409 45529)			364.537154	KEEP	49	75	-1	85	99	49	75	-1	367.110383	85	99	0.394737	1	0	0	0	0	1	0	0	0	--	--		0	C			UQCRC1_uc003cua.1_Missense_Mutation_p.E91G|UQCRC1_uc003cuc.1_Missense_Mutation_p.E206G|UQCRC1_uc003cud.1_Missense_Mutation_p.E206G	183	GBM-26-5134-TP	p.E206G	T	CCTGACATTCTCACTGGGCCC	NM_003365	NP_003356	48641675	P31930	QCR1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	5	662	-	C	C			Missense_Mutation	206						
UQCRQ	27089	broad.mit.edu	GRCh37	5	132202700	132202701	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0238-01	TCGA-06-0238-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378670.3:c.130dup	p.Glu44GlyfsTer22	p.E44Gfs*22	ENST00000378670	NM_014402.4	43	cgg/cGgg	0			1			G	R/RX	uc003kya.1	protein_coding		CCDS34237.1			127-128/249										0	c.(127-129)CGGfs			hmmpanther:PTHR12119,Gene3D:1.20.5.210,Pfam_domain:PF02939,Superfamily_domains:SSF81508	ubiquinol-cytochrome c reductase, complex III				ENSP00000367934		2-Jan										2-Jan	.		ENST00000378665	Transcript	1		respiratory electron transport chain	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity	ENSG00000164405	g.chr5:132202700_132202701insG	29594	3		HIGH								--	--	1																																		GDF9_uc003kxz.1_5'Flank|GDF9_uc011cxj.1_5'Flank					p.R43fs	NM_014402	NP_055217				QCR8_HUMAN	UQCRQ	HGNC	O14949	QCR8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)				2	201_202	+		all_cancers(142;0.105)|Breast(839;0.198)	UPI000015D476	43					insertion	UQCRQ,frameshift_variant,p.Glu44GlyfsTer22,ENST00000378670,NM_014402.4;UQCRQ,frameshift_variant,p.Glu44GlyfsTer22,ENST00000378665,;UQCRQ,frameshift_variant,p.Glu44GlyfsTer22,ENST00000378667,;GDF9,upstream_gene_variant,,ENST00000378673,NM_001288828.1,NM_001288825.1;GDF9,upstream_gene_variant,,ENST00000296875,NM_005260.3;UQCRQ,intron_variant,,ENST00000496429,;GDF9,upstream_gene_variant,,ENST00000464378,;GDF9,upstream_gene_variant,,ENST00000472320,;UQCRQ,non_coding_transcript_exon_variant,,ENST00000498309,;UQCRQ,non_coding_transcript_exon_variant,,ENST00000480372,;	uc003kya.1	c.127_128insG	363-364/586	5	5			c.127_128insG						5	INS	c.(127-129)CGGfs	47	47				0	Broad	ubiquinol-cytochrome c reductase, complex III			132202701		0.629	ENSG00000164405	16771	g.chr5:132202700_132202701insG	respiratory electron transport chain	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity																				0.31	1	0	0	1	1	0	0	0	0	--	--		0	G			GDF9_uc003kxz.1_5'Flank|GDF9_uc011cxj.1_5'Flank	55	GBM-06-0238-TP	p.R43fs	-	GCGCCGCATTCGGGAGTCTTTC	NM_014402	NP_055217	132202700	O14949	QCR8_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	201_202	+	G	G		all_cancers(142;0.105)|Breast(839;0.198)	Frame_Shift_Ins	43						
URB2	9816		GRCh37	1	229772130	229772130	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000258243.2:c.1770C>A	p.Thr590=	p.T590=	ENST00000258243	NM_014777.2	590	acC/acA	0																																																																																																																																																																																																																																												
URGCP	0	broad.mit.edu	GRCh37	7	43917037	43917037	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-14-1829-01	TCGA-14-1829-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000453200.1:c.2025C>G	p.Val675=	p.V675=	ENST00000453200		675	gtC/gtG	0			1			C	V	uc003tiw.2	protein_coding	YES	CCDS47578.1			2025/2796									ovary(2)|liver(1)|skin(1)	4	c.(2023-2025)GTC>GTG			hmmpanther:PTHR22796,Gene3D:3.40.50.300	up-regulated gene 4 isoform 3				ENSP00000396918		6-Jun									COSM3412064,COSM3412063	6-Jun	.		ENST00000453200	Transcript			cell cycle	centrosome|nucleus	GTP binding	ENSG00000106608	g.chr7:43917037G>C	30890			LOW								--	--	1																																		URGCP_uc003tiu.2_Silent_p.V632V|URGCP_uc003tiv.2_Silent_p.V600V|URGCP_uc003tix.2_Silent_p.V666V|URGCP_uc003tiy.2_Silent_p.V632V|URGCP_uc003tiz.2_Silent_p.V632V|URGCP_uc011kbj.1_Silent_p.V632V	1,1	1			p.V675V	NM_001077663	NP_001071131			1,1	URGCP_HUMAN	URGCP	HGNC	Q8TCY9	URGCP_HUMAN			C9JKA8_HUMAN,C9J0W2_HUMAN		6	2082	-			UPI000020EE9D	675					SNV	URGCP,synonymous_variant,p.=,ENST00000336086,;URGCP,synonymous_variant,p.=,ENST00000453200,;URGCP,synonymous_variant,p.=,ENST00000223341,;URGCP,synonymous_variant,p.=,ENST00000443736,NM_001077663.1;URGCP,synonymous_variant,p.=,ENST00000402306,NM_017920.3;URGCP,synonymous_variant,p.=,ENST00000447717,;URGCP-MRPS24,intron_variant,,ENST00000603700,NM_001204871.1;URGCP,downstream_gene_variant,,ENST00000426198,NM_001077664.1;URGCP,downstream_gene_variant,,ENST00000455877,;URGCP,downstream_gene_variant,,ENST00000446958,;URGCP,non_coding_transcript_exon_variant,,ENST00000497914,;URGCP,downstream_gene_variant,,ENST00000439702,;URGCP,downstream_gene_variant,,ENST00000467410,;URGCP,downstream_gene_variant,,ENST00000474376,;	uc003tiw.2	c.2025C>G	2519/4042	3	3			c.2025C>G						7	SNP	c.(2023-2025)GTC>GTG	3	3			ovary(2)|liver(1)|skin(1)	4	Broad	up-regulated gene 4 isoform 3			43917037		0.642	ENSG00000106608	16773	g.chr7:43917037G>C	cell cycle	centrosome|nucleus	GTP binding							87.664081	KEEP	11	19	-1	47	49	11	19	-1	94.576875	47	49	0.245763	1	0	0	0	0	0	0	1	0	--	--		0	C			URGCP_uc003tiu.2_Silent_p.V632V|URGCP_uc003tiv.2_Silent_p.V600V|URGCP_uc003tix.2_Silent_p.V666V|URGCP_uc003tiy.2_Silent_p.V632V|URGCP_uc003tiz.2_Silent_p.V632V|URGCP_uc011kbj.1_Silent_p.V632V	149	GBM-14-1829-TP	p.V675V	G	GGAGCCCTGTGACCCAGCGGA	NM_001077663	NP_001071131	43917037	Q8TCY9	URGCP_HUMAN	0			6	2082	-	C	C			Silent	675						
URGCP	0	broad.mit.edu	GRCh37	7	43917123	43917123	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-14-1829-01	TCGA-14-1829-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000453200.1:c.1939C>A	p.Pro647Thr	p.P647T	ENST00000453200		647	Cca/Aca	0			1			T	P/T	uc003tiw.2	protein_coding	YES	CCDS47578.1			1939/2796									ovary(2)|liver(1)|skin(1)	4	c.(1939-1941)CCA>ACA			Low_complexity_(Seg):seg,hmmpanther:PTHR22796	up-regulated gene 4 isoform 3				ENSP00000396918		6-Jun									COSM3412066,COSM3412065	6-Jun	.		ENST00000453200	Transcript			cell cycle	centrosome|nucleus	GTP binding	ENSG00000106608	g.chr7:43917123G>T	30890			MODERATE		2.66	medium	getma.org/?cm=msa&ty=f&p=URGCP_HUMAN&rb=4&re=929&var=P647T	NA	getma.org/?cm=var&var=hg19,7,43917123,G,T&fts=all	P647T	--	--	1																																		URGCP_uc003tiu.2_Missense_Mutation_p.P604T|URGCP_uc003tiv.2_Missense_Mutation_p.P572T|URGCP_uc003tix.2_Missense_Mutation_p.P638T|URGCP_uc003tiy.2_Missense_Mutation_p.P604T|URGCP_uc003tiz.2_Missense_Mutation_p.P604T|URGCP_uc011kbj.1_Missense_Mutation_p.P604T	1,1	1		probably_damaging(0.911)	p.P647T	NM_001077663	NP_001071131		deleterious(0)	1,1	URGCP_HUMAN	URGCP	HGNC	Q8TCY9	URGCP_HUMAN			C9JKA8_HUMAN,C9J0W2_HUMAN		6	1996	-			UPI000020EE9D	647					SNV	URGCP,missense_variant,p.Pro604Thr,ENST00000336086,;URGCP,missense_variant,p.Pro647Thr,ENST00000453200,;URGCP,missense_variant,p.Pro604Thr,ENST00000223341,;URGCP,missense_variant,p.Pro604Thr,ENST00000443736,NM_001077663.1;URGCP,missense_variant,p.Pro638Thr,ENST00000402306,NM_017920.3;URGCP,missense_variant,p.Pro604Thr,ENST00000447717,;URGCP-MRPS24,intron_variant,,ENST00000603700,NM_001204871.1;URGCP,downstream_gene_variant,,ENST00000426198,NM_001077664.1;URGCP,downstream_gene_variant,,ENST00000455877,;URGCP,downstream_gene_variant,,ENST00000446958,;URGCP,non_coding_transcript_exon_variant,,ENST00000497914,;URGCP,downstream_gene_variant,,ENST00000439702,;URGCP,downstream_gene_variant,,ENST00000467410,;URGCP,downstream_gene_variant,,ENST00000474376,;	uc003tiw.2	c.1939C>A	2433/4042	1	1			c.1939C>A						7	SNP	c.(1939-1941)CCA>ACA	4	4			ovary(2)|liver(1)|skin(1)	4	Broad	up-regulated gene 4 isoform 3			43917123		0.622	ENSG00000106608	16773	g.chr7:43917123G>T	cell cycle	centrosome|nucleus	GTP binding							59.000657	KEEP	14	17	0.451612903	32	26	14	17	0.451612903	60.456069	32	26	0.343284	1	0	0	0	0	1	0	0	0	--	--		0	T			URGCP_uc003tiu.2_Missense_Mutation_p.P604T|URGCP_uc003tiv.2_Missense_Mutation_p.P572T|URGCP_uc003tix.2_Missense_Mutation_p.P638T|URGCP_uc003tiy.2_Missense_Mutation_p.P604T|URGCP_uc003tiz.2_Missense_Mutation_p.P604T|URGCP_uc011kbj.1_Missense_Mutation_p.P604T	149	GBM-14-1829-TP	p.P647T	G	GCCAAGCCTGGGAAGTGGGCA	NM_001077663	NP_001071131	43917123	Q8TCY9	URGCP_HUMAN	0			6	1996	-	T	T			Missense_Mutation	647						
URGCP	0	broad.mit.edu	GRCh37	7	43918034	43918034	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-14-1829-01	TCGA-14-1829-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000453200.1:c.1028C>G	p.Ser343Cys	p.S343C	ENST00000453200		343	tCt/tGt	0			1			C	S/C	uc003tiw.2	protein_coding	YES	CCDS47578.1			1028/2796									ovary(2)|liver(1)|skin(1)	4	c.(1027-1029)TCT>TGT			hmmpanther:PTHR22796	up-regulated gene 4 isoform 3				ENSP00000396918		6-Jun									COSM3412070,COSM3412069	6-Jun	.		ENST00000453200	Transcript			cell cycle	centrosome|nucleus	GTP binding	ENSG00000106608	g.chr7:43918034G>C	30890			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=URGCP_HUMAN&rb=4&re=929&var=S343C	NA	getma.org/?cm=var&var=hg19,7,43918034,G,C&fts=all	S343C	--	--	1																																		URGCP_uc003tiu.2_Missense_Mutation_p.S300C|URGCP_uc003tiv.2_Missense_Mutation_p.S268C|URGCP_uc003tix.2_Missense_Mutation_p.S334C|URGCP_uc003tiy.2_Missense_Mutation_p.S300C|URGCP_uc003tiz.2_Missense_Mutation_p.S300C|URGCP_uc011kbj.1_Missense_Mutation_p.S300C	1,1	1		probably_damaging(0.999)	p.S343C	NM_001077663	NP_001071131		deleterious(0.01)	1,1	URGCP_HUMAN	URGCP	HGNC	Q8TCY9	URGCP_HUMAN			C9JKA8_HUMAN,C9J0W2_HUMAN		6	1085	-			UPI000020EE9D	343					SNV	URGCP,missense_variant,p.Ser300Cys,ENST00000336086,;URGCP,missense_variant,p.Ser343Cys,ENST00000453200,;URGCP,missense_variant,p.Ser300Cys,ENST00000223341,;URGCP,missense_variant,p.Ser300Cys,ENST00000443736,NM_001077663.1;URGCP,missense_variant,p.Ser334Cys,ENST00000402306,NM_017920.3;URGCP,missense_variant,p.Ser300Cys,ENST00000447717,;URGCP-MRPS24,intron_variant,,ENST00000603700,NM_001204871.1;URGCP,downstream_gene_variant,,ENST00000426198,NM_001077664.1;URGCP,downstream_gene_variant,,ENST00000455877,;URGCP,downstream_gene_variant,,ENST00000446958,;URGCP,non_coding_transcript_exon_variant,,ENST00000497914,;URGCP,downstream_gene_variant,,ENST00000439702,;URGCP,downstream_gene_variant,,ENST00000467410,;URGCP,downstream_gene_variant,,ENST00000474376,;	uc003tiw.2	c.1028C>G	1522/4042	4	4			c.1028C>G						7	SNP	c.(1027-1029)TCT>TGT	41	41			ovary(2)|liver(1)|skin(1)	4	Broad	up-regulated gene 4 isoform 3			43918034		0.458	ENSG00000106608	16773	g.chr7:43918034G>C	cell cycle	centrosome|nucleus	GTP binding							119.935695	KEEP	26	30	-1	103	91	26	30	-1	135.302429	103	91	0.211055	1	0	0	0	0	1	0	0	0	--	--		0	C			URGCP_uc003tiu.2_Missense_Mutation_p.S300C|URGCP_uc003tiv.2_Missense_Mutation_p.S268C|URGCP_uc003tix.2_Missense_Mutation_p.S334C|URGCP_uc003tiy.2_Missense_Mutation_p.S300C|URGCP_uc003tiz.2_Missense_Mutation_p.S300C|URGCP_uc011kbj.1_Missense_Mutation_p.S300C	149	GBM-14-1829-TP	p.S343C	G	CAGCCAGTGAGACCCGATGTC	NM_001077663	NP_001071131	43918034	Q8TCY9	URGCP_HUMAN	0			6	1085	-	C	C			Missense_Mutation	343						
URGCP	0	broad.mit.edu	GRCh37	7	43918768	43918768	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-14-1829-01	TCGA-14-1829-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000453200.1:c.294C>G	p.Ile98Met	p.I98M	ENST00000453200		98	atC/atG	0			1			C	I/M	uc003tiw.2	protein_coding	YES	CCDS47578.1			294/2796									ovary(2)|liver(1)|skin(1)	4	c.(292-294)ATC>ATG			hmmpanther:PTHR22796	up-regulated gene 4 isoform 3				ENSP00000396918		6-Jun									COSM3412072,COSM3412071	6-Jun	.		ENST00000453200	Transcript			cell cycle	centrosome|nucleus	GTP binding	ENSG00000106608	g.chr7:43918768G>C	30890			MODERATE		2.365	medium	getma.org/?cm=msa&ty=f&p=URGCP_HUMAN&rb=4&re=929&var=I98M	NA	getma.org/?cm=var&var=hg19,7,43918768,G,C&fts=all	I98M	--	--	1																																		URGCP_uc003tiu.2_Missense_Mutation_p.I55M|URGCP_uc003tiv.2_Missense_Mutation_p.I23M|URGCP_uc003tix.2_Missense_Mutation_p.I89M|URGCP_uc003tiy.2_Missense_Mutation_p.I55M|URGCP_uc003tiz.2_Missense_Mutation_p.I55M|URGCP_uc011kbj.1_Missense_Mutation_p.I55M	1,1	1		probably_damaging(0.999)	p.I98M	NM_001077663	NP_001071131		deleterious(0)	1,1	URGCP_HUMAN	URGCP	HGNC	Q8TCY9	URGCP_HUMAN			C9JKA8_HUMAN,C9J0W2_HUMAN		6	351	-			UPI000020EE9D	98					SNV	URGCP,missense_variant,p.Ile55Met,ENST00000336086,;URGCP,missense_variant,p.Ile98Met,ENST00000453200,;URGCP,missense_variant,p.Ile55Met,ENST00000223341,;URGCP,missense_variant,p.Ile55Met,ENST00000443736,NM_001077663.1;URGCP,missense_variant,p.Ile89Met,ENST00000402306,NM_017920.3;URGCP,missense_variant,p.Ile55Met,ENST00000447717,;URGCP,missense_variant,p.Ile55Met,ENST00000426198,NM_001077664.1;URGCP,missense_variant,p.Ile55Met,ENST00000455877,;URGCP-MRPS24,intron_variant,,ENST00000603700,NM_001204871.1;URGCP,downstream_gene_variant,,ENST00000446958,;URGCP,non_coding_transcript_exon_variant,,ENST00000497914,;URGCP,3_prime_UTR_variant,,ENST00000439702,;URGCP,non_coding_transcript_exon_variant,,ENST00000467410,;URGCP,non_coding_transcript_exon_variant,,ENST00000474376,;	uc003tiw.2	c.294C>G	788/4042	3	3			c.294C>G						7	SNP	c.(292-294)ATC>ATG	7	7			ovary(2)|liver(1)|skin(1)	4	Broad	up-regulated gene 4 isoform 3			43918768		0.507	ENSG00000106608	16773	g.chr7:43918768G>C	cell cycle	centrosome|nucleus	GTP binding							124.685889	KEEP	26	20	-1	84	81	26	20	-1	140.293545	84	81	0.213592	1	0	0	0	0	1	0	0	0	--	--		0	C			URGCP_uc003tiu.2_Missense_Mutation_p.I55M|URGCP_uc003tiv.2_Missense_Mutation_p.I23M|URGCP_uc003tix.2_Missense_Mutation_p.I89M|URGCP_uc003tiy.2_Missense_Mutation_p.I55M|URGCP_uc003tiz.2_Missense_Mutation_p.I55M|URGCP_uc011kbj.1_Missense_Mutation_p.I55M	149	GBM-14-1829-TP	p.I98M	G	TGTCAAAACTGATCTGCAGAG	NM_001077663	NP_001071131	43918768	Q8TCY9	URGCP_HUMAN	0			6	351	-	C	C			Missense_Mutation	98						
URGCP	0	broad.mit.edu	GRCh37	7	43917540	43917540	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000453200.1:c.1522G>A	p.Glu508Lys	p.E508K	ENST00000453200		508	Gag/Aag	0			1			T	E/K	uc003tiw.2	protein_coding	YES	CCDS47578.1			1522/2796									ovary(2)|liver(1)|skin(1)	4	c.(1522-1524)GAG>AAG			hmmpanther:PTHR22796	up-regulated gene 4 isoform 3				ENSP00000396918		6-Jun									COSM3412068,COSM3412067	6-Jun	.		ENST00000453200	Transcript			cell cycle	centrosome|nucleus	GTP binding	ENSG00000106608	g.chr7:43917540C>T	30890			MODERATE		2.375	medium	getma.org/?cm=msa&ty=f&p=URGCP_HUMAN&rb=4&re=929&var=E508K	NA	getma.org/?cm=var&var=hg19,7,43917540,C,T&fts=all	E508K	--	--	1																																		URGCP_uc003tiu.2_Missense_Mutation_p.E465K|URGCP_uc003tiv.2_Missense_Mutation_p.E433K|URGCP_uc003tix.2_Missense_Mutation_p.E499K|URGCP_uc003tiy.2_Missense_Mutation_p.E465K|URGCP_uc003tiz.2_Missense_Mutation_p.E465K|URGCP_uc011kbj.1_Missense_Mutation_p.E465K	1,1	1		probably_damaging(0.94)	p.E508K	NM_001077663	NP_001071131		deleterious(0.02)	1,1	URGCP_HUMAN	URGCP	HGNC	Q8TCY9	URGCP_HUMAN			C9JKA8_HUMAN,C9J0W2_HUMAN		6	1579	-			UPI000020EE9D	508					SNV	URGCP,missense_variant,p.Glu465Lys,ENST00000336086,;URGCP,missense_variant,p.Glu508Lys,ENST00000453200,;URGCP,missense_variant,p.Glu465Lys,ENST00000223341,;URGCP,missense_variant,p.Glu465Lys,ENST00000443736,NM_001077663.1;URGCP,missense_variant,p.Glu499Lys,ENST00000402306,NM_017920.3;URGCP,missense_variant,p.Glu465Lys,ENST00000447717,;URGCP-MRPS24,intron_variant,,ENST00000603700,NM_001204871.1;URGCP,downstream_gene_variant,,ENST00000426198,NM_001077664.1;URGCP,downstream_gene_variant,,ENST00000455877,;URGCP,downstream_gene_variant,,ENST00000446958,;URGCP,non_coding_transcript_exon_variant,,ENST00000497914,;URGCP,downstream_gene_variant,,ENST00000439702,;URGCP,downstream_gene_variant,,ENST00000467410,;URGCP,downstream_gene_variant,,ENST00000474376,;	uc003tiw.2	c.1522G>A	2016/4042	2	2			c.1522G>A						7	SNP	c.(1522-1524)GAG>AAG	26	26			ovary(2)|liver(1)|skin(1)	4	Broad	up-regulated gene 4 isoform 3			43917540		0.607	ENSG00000106608	16773	g.chr7:43917540C>T	cell cycle	centrosome|nucleus	GTP binding							45.821306	KEEP	14	12	-1	69	67	14	12	-1	62.482328	69	67	0.162338	1	0	0	0	0	1	0	0	0	--	--		0	T			URGCP_uc003tiu.2_Missense_Mutation_p.E465K|URGCP_uc003tiv.2_Missense_Mutation_p.E433K|URGCP_uc003tix.2_Missense_Mutation_p.E499K|URGCP_uc003tiy.2_Missense_Mutation_p.E465K|URGCP_uc003tiz.2_Missense_Mutation_p.E465K|URGCP_uc011kbj.1_Missense_Mutation_p.E465K	159	GBM-19-1390-TP	p.E508K	C	AACTCCTTCTCCACTTGGGCT	NM_001077663	NP_001071131	43917540	Q8TCY9	URGCP_HUMAN	0			6	1579	-	T	T			Missense_Mutation	508						
UROC1	131669	broad.mit.edu	GRCh37	3	126236443	126236443	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0219-01	TCGA-06-0219-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000383579.3:c.120G>A	p.Glu40=	p.E40=	ENST00000383579	NM_001165974.1	40	gaG/gaA	0			1			T	E	uc003eiz.1	protein_coding		CCDS3038.1			120/2031									ovary(1)	1	c.(118-120)GAG>GAA			hmmpanther:PTHR12216:SF3,hmmpanther:PTHR12216	urocanase domain containing 1 isoform 1				ENSP00000290868		20-Jan									COSM2150951,COSM2150950	20-Jan	.		ENST00000290868	Transcript	1		histidine catabolic process	cytosol	urocanate hydratase activity	ENSG00000159650	g.chr3:126236443C>T	26444			LOW								--	--	1																																		UROC1_uc010hsi.1_Silent_p.E40E	1,1				p.E40E	NM_144639	NP_653240			1,1	HUTU_HUMAN	UROC1	HGNC	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)			1	152	-			UPI000012CEC2	40					SNV	UROC1,synonymous_variant,p.=,ENST00000290868,NM_144639.2;UROC1,synonymous_variant,p.=,ENST00000383579,NM_001165974.1;	uc003eiz.1	c.120G>A	174/3149	1	1			c.120G>A						3	SNP	c.(118-120)GAG>GAA	5	5			ovary(1)	1	Broad	urocanase domain containing 1 isoform 1			126236443		0.677	ENSG00000159650	16775	g.chr3:126236443C>T	histidine catabolic process	cytosol	urocanate hydratase activity							74.481733	KEEP	11	17	-1	24	24	11	17	-1	75.5617	24	24	0.363636	1	0	0	0	0	0	0	1	0	--	--		0	T			UROC1_uc010hsi.1_Silent_p.E40E	52	GBM-06-0219-TP	p.E40E	C	TTACCTGTTTCTCCACAGGGC	NM_144639	NP_653240	126236443	Q96N76	HUTU_HUMAN	0		GBM - Glioblastoma multiforme(114;0.17)	1	152	-	T	T			Silent	40						
UROC1	131669	broad.mit.edu	GRCh37	3	126219669	126219669	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0744-01	TCGA-06-0744-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000383579.3:c.1194C>G	p.Asp398Glu	p.D398E	ENST00000383579	NM_001165974.1	398	gaC/gaG	0			1			C	D/E	uc003eiz.1	protein_coding		CCDS3038.1			1014/2031									ovary(1)	1	c.(1012-1014)GAC>GAG			HAMAP:MF_00577,hmmpanther:PTHR12216:SF3,hmmpanther:PTHR12216,Gene3D:1x87B01,Pfam_domain:PF01175,PIRSF_domain:PIRSF001423,Superfamily_domains:SSF111326	urocanase domain containing 1 isoform 1				ENSP00000290868		20-Nov									COSM2151616,COSM2151615	20-Nov	.		ENST00000290868	Transcript	1		histidine catabolic process	cytosol	urocanate hydratase activity	ENSG00000159650	g.chr3:126219669G>C	26444			MODERATE		1.555	low	getma.org/?cm=msa&ty=f&p=HUTU_HUMAN&rb=84&re=662&var=D338E	getma.org/pdb.php?prot=HUTU_HUMAN&from=84&to=662&var=D338E	getma.org/?cm=var&var=hg19,3,126219669,G,C&fts=all	D338E	--	--	1																																		UROC1_uc010hsi.1_Missense_Mutation_p.D398E	1,1			benign(0.012)	p.D338E	NM_144639	NP_653240		tolerated(0.33)	1,1	HUTU_HUMAN	UROC1	HGNC	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)			11	1046	-			UPI000012CEC2	338					SNV	UROC1,missense_variant,p.Asp338Glu,ENST00000290868,NM_144639.2;UROC1,missense_variant,p.Asp398Glu,ENST00000383579,NM_001165974.1;	uc003eiz.1	c.1014C>G	1068/3149	3	3			c.1014C>G						3	SNP	c.(1012-1014)GAC>GAG	50	50			ovary(1)	1	Broad	urocanase domain containing 1 isoform 1			126219669		0.632	ENSG00000159650	16775	g.chr3:126219669G>C	histidine catabolic process	cytosol	urocanate hydratase activity							115.605941	KEEP	21	20	-1	34	27	21	20	-1	116.852655	34	27	0.376344	1	0	0	0	0	1	0	0	0	--	--		0	C			UROC1_uc010hsi.1_Missense_Mutation_p.D398E	66	GBM-06-0744-TP	p.D338E	G	CTGACCCCAGGTCCACCAAGC	NM_144639	NP_653240	126219669	Q96N76	HUTU_HUMAN	0		GBM - Glioblastoma multiforme(114;0.17)	11	1046	-	C	C			Missense_Mutation	338						
USE1	55850	broad.mit.edu	GRCh37	19	17329200	17329200	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5410-01	TCGA-06-5410-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263897.5:c.422C>T	p.Thr141Ile	p.T141I	ENST00000263897	NM_018467.3	141	aCt/aTt	0			1			T	T/I	uc002nfo.2	protein_coding	YES	CCDS46011.1			422/780										0	c.(421-423)ACT>ATT			Pfam_domain:PF09753,hmmpanther:PTHR13050	unconventional SNARE in the ER 1 homolog				ENSP00000263897		8-Jun									COSM3403912	8-Jun	.		ENST00000263897	Transcript			lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding	ENSG00000053501	g.chr19:17329200C>T	30882			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=USE1_HUMAN&rb=4&re=255&var=T141I	NA	getma.org/?cm=var&var=hg19,19,17329200,C,T&fts=all	T141I	--	--	1																																		USE1_uc002nfn.2_3'UTR|USE1_uc010eal.1_Missense_Mutation_p.T141I	1	1		benign(0.003)	p.T141I	NM_018467	NP_060937		tolerated(0.3)	1	USE1_HUMAN	USE1	HGNC	Q9NZ43	USE1_HUMAN			M0QYT5_HUMAN		6	482	+			UPI000013F66C	141			Cytoplasmic (Potential).		SNV	USE1,missense_variant,p.Thr141Ile,ENST00000445667,;USE1,missense_variant,p.Thr141Ile,ENST00000263897,NM_018467.3;USE1,missense_variant,p.Thr141Ile,ENST00000596136,;USE1,missense_variant,p.Thr141Ile,ENST00000379776,;USE1,missense_variant,p.Thr100Ile,ENST00000593597,;USE1,3_prime_UTR_variant,,ENST00000595101,;MYO9B,downstream_gene_variant,,ENST00000598419,;USE1,splice_region_variant,,ENST00000600970,;USE1,splice_region_variant,,ENST00000594724,;USE1,downstream_gene_variant,,ENST00000594399,;USE1,downstream_gene_variant,,ENST00000601592,;USE1,downstream_gene_variant,,ENST00000601662,;	uc002nfo.2	c.422C>T	469/843	2	2			c.422C>T						19	SNP	c.(421-423)ACT>ATT	46	46				0	Broad	unconventional SNARE in the ER 1 homolog			17329200		0.582	ENSG00000053501	16778	g.chr19:17329200C>T	lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding							0.260069	KEEP	1	3	-1	31	25	1	3	-1	8.994852	31	25	0.081633	1	0	0	0	0	1	0	0	0	--	--		0	T			USE1_uc002nfn.2_3'UTR|USE1_uc010eal.1_Missense_Mutation_p.T141I	93	GBM-06-5410-TP	p.T141I	C	AGGAAGAGAACGTGAGTGTCT	NM_018467	NP_060937	17329200	Q9NZ43	USE1_HUMAN	0			6	482	+	T	T			Missense_Mutation	141			Cytoplasmic (Potential).			
USE1	0	broad.mit.edu	GRCh37	19	17330166	17330166	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-4213-01	TCGA-32-4213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263897.5:c.567C>T	p.Ala189=	p.A189=	ENST00000263897	NM_018467.3	189	gcC/gcT	0			1			T	A	uc002nfo.2	protein_coding	YES	CCDS46011.1			567/780										0	c.(565-567)GCC>GCT			Pfam_domain:PF09753,hmmpanther:PTHR13050	unconventional SNARE in the ER 1 homolog				ENSP00000263897		8-Jul	8.52E-06							0.000113	rs369161038,COSM992719	8-Jul	.		ENST00000263897	Transcript			lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding	ENSG00000053501	g.chr19:17330166C>T	30882			LOW								--	--	1																																		USE1_uc010eal.1_Intron	0,1	1			p.A189A	NM_018467	NP_060937			0,1	USE1_HUMAN	USE1	HGNC	Q9NZ43	USE1_HUMAN			M0QYT5_HUMAN		7	627	+			UPI000013F66C	189			Cytoplasmic (Potential).|Potential.		SNV	USE1,synonymous_variant,p.=,ENST00000445667,;USE1,synonymous_variant,p.=,ENST00000263897,NM_018467.3;USE1,synonymous_variant,p.=,ENST00000593597,;USE1,intron_variant,,ENST00000596136,;USE1,intron_variant,,ENST00000379776,;USE1,downstream_gene_variant,,ENST00000595101,;MYO9B,downstream_gene_variant,,ENST00000598419,;USE1,3_prime_UTR_variant,,ENST00000600970,;USE1,3_prime_UTR_variant,,ENST00000594724,;USE1,downstream_gene_variant,,ENST00000594399,;USE1,downstream_gene_variant,,ENST00000601592,;USE1,downstream_gene_variant,,ENST00000601662,;	uc002nfo.2	c.567C>T	614/843	2	2			c.567C>T						19	SNP	c.(565-567)GCC>GCT	42	42				0	Broad	unconventional SNARE in the ER 1 homolog			17330166		0.303	ENSG00000053501	16778	g.chr19:17330166C>T	lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding							6.017252	KEEP	0	3	-1	3	10	0	3	-1	7.479822	3	10	0.1875	1	0	0	0	0	0	0	1	0	--	--		0	T			USE1_uc010eal.1_Intron	247	GBM-32-4213-TP	p.A189A	C	ATACCCTGGCCGcccagagtg	NM_018467	NP_060937	17330166	Q9NZ43	USE1_HUMAN	0			7	627	+	T	T			Silent	189			Cytoplasmic (Potential).|Potential.			
USH1C	10083		GRCh37	11	17519716	17519716	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000005226.7:c.2483A>G	p.Gln828Arg	p.Q828R	ENST00000005226	NM_153676.3	828	cAg/cGg	0																																																																																																																																																																																																																																												
USH1G	124590	broad.mit.edu	GRCh37	17	72916074	72916074	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0152-01	TCGA-06-0152-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319642.1:c.857C>T	p.Ala286Val	p.A286V	ENST00000319642	NM_173477.2	286	gCc/gTc	0			1			A	A/V	uc002jme.1	protein_coding	YES	CCDS32725.1			857/1386									skin(2)	2	c.(856-858)GCC>GTC				Usher syndrome 1G protein				ENSP00000320076		3-Feb									COSM2149829	3-Feb	.		ENST00000319642	Transcript	1		equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		ENSG00000182040	g.chr17:72916074G>A	16356			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=USH1G_HUMAN&rb=250&re=319&var=A286V	NA	getma.org/?cm=var&var=hg19,17,72916074,G,A&fts=all	A286V	--	--	1																																		USH1G_uc010wro.1_Missense_Mutation_p.A183V	1	1		probably_damaging(0.996)	p.A286V	NM_173477	NP_775748		tolerated(0.48)	1	USH1G_HUMAN	USH1G	HGNC	Q495M9	USH1G_HUMAN					2	1040	-	all_lung(278;0.172)|Lung NSC(278;0.207)		UPI00001BC010	286					SNV	USH1G,missense_variant,p.Ala286Val,ENST00000319642,NM_173477.2,NM_001282489.1;OTOP2,upstream_gene_variant,,ENST00000331427,NM_178160.2;OTOP2,upstream_gene_variant,,ENST00000580223,;USH1G,3_prime_UTR_variant,,ENST00000579243,;OTOP2,upstream_gene_variant,,ENST00000584711,;	uc002jme.1	c.857C>T	1040/3561	2	2			c.857C>T						17	SNP	c.(856-858)GCC>GTC	32	32			skin(2)	2	Broad	Usher syndrome 1G protein			72916074		0.687	ENSG00000182040	16782	g.chr17:72916074G>A	equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton								20.118983	KEEP	6	12	-1	48	28	6	12	-1	24.926208	48	28	0.188679	1	0	0	0	0	1	0	0	0	--	--		0	A			USH1G_uc010wro.1_Missense_Mutation_p.A183V	25	GBM-06-0152-TP	p.A286V	G	CGCCAGCGTGGCACGGGAGAC	NM_173477	NP_775748	72916074	Q495M9	USH1G_HUMAN	0			2	1040	-	A	A	all_lung(278;0.172)|Lung NSC(278;0.207)		Missense_Mutation	286						
USH1G	0	broad.mit.edu	GRCh37	17	72916669	72916669	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319642.1:c.262G>A	p.Gly88Arg	p.G88R	ENST00000319642	NM_173477.2	88	Gga/Aga	0	T:0.0002		1			T	G/R	uc002jme.1	protein_coding	YES	CCDS32725.1			262/1386									skin(2)	2	c.(262-264)GGA>AGA			PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24161,hmmpanther:PTHR24161:SF6,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403	Usher syndrome 1G protein			T:0	ENSP00000320076		3-Feb									rs368407264,COSM2978233	3-Feb	.		ENST00000319642	Transcript	1		equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		ENSG00000182040	g.chr17:72916669C>T	16356			MODERATE		2.735	medium	getma.org/?cm=msa&ty=f&p=USH1G_HUMAN&rb=37&re=128&var=G88R	getma.org/pdb.php?prot=USH1G_HUMAN&from=37&to=128&var=G88R	getma.org/?cm=var&var=hg19,17,72916669,C,T&fts=all	G88R	--	--	1																																		USH1G_uc010wro.1_5'UTR	0,1	1		probably_damaging(1)	p.G88R	NM_173477	NP_775748		deleterious(0)	0,1	USH1G_HUMAN	USH1G	HGNC	Q495M9	USH1G_HUMAN					2	445	-	all_lung(278;0.172)|Lung NSC(278;0.207)		UPI00001BC010	88			ANK 2.		SNV	USH1G,missense_variant,p.Gly88Arg,ENST00000319642,NM_173477.2,NM_001282489.1;OTOP2,upstream_gene_variant,,ENST00000331427,NM_178160.2;OTOP2,upstream_gene_variant,,ENST00000580223,;USH1G,missense_variant,p.Arg70Gln,ENST00000579243,;OTOP2,upstream_gene_variant,,ENST00000584711,;	uc002jme.1	c.262G>A	445/3561	2	2			c.262G>A						17	SNP	c.(262-264)GGA>AGA	46	46			skin(2)	2	Broad	Usher syndrome 1G protein			72916669		0.602	ENSG00000182040	16782	g.chr17:72916669C>T	equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton								73.329506	KEEP	15	15	-1	52	52	15	15	-1	80.805238	52	52	0.239669	1	0	0	0	0	1	0	0	0	--	--		0	T			USH1G_uc010wro.1_5'UTR	207	GBM-28-1753-TP	p.G88R	C	ATGTTGGCTCCGAAGGACACC	NM_173477	NP_775748	72916669	Q495M9	USH1G_HUMAN	0			2	445	-	T	T	all_lung(278;0.172)|Lung NSC(278;0.207)		Missense_Mutation	88			ANK 2.			
USH2A	7399	broad.mit.edu	GRCh37	1	216052218	216052218	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0129-01	TCGA-06-0129-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307340.3:c.8446A>C	p.Thr2816Pro	p.T2816P	ENST00000307340	NM_206933.2	2816	Act/Cct	0			1			G	T/P	uc001hku.1	protein_coding	YES	CCDS31025.1			8446/15609									ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	c.(8446-8448)ACT>CCT			Superfamily_domains:SSF49265,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	usherin isoform B				ENSP00000305941		42/72									COSM2149524,COSM3747824	42/72	.		ENST00000307340	Transcript	1		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	ENSG00000042781	g.chr1:216052218T>G	12601			MODERATE		3.505	high	getma.org/?cm=msa&ty=f&p=USH2A_HUMAN&rb=2774&re=2851&var=T2816P	NA	getma.org/?cm=var&var=hg19,1,216052218,T,G&fts=all	T2816P	--	--	1				HNSCC(13;0.011)																															1,1	1		probably_damaging(1)	p.T2816P	NM_206933	NP_996816			1,1	USH2A_HUMAN	USH2A	HGNC	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)			42	8833	-			UPI000034E5B6	2816			Extracellular (Potential).		SNV	USH2A,missense_variant,p.Thr2816Pro,ENST00000366943,;USH2A,missense_variant,p.Thr2816Pro,ENST00000307340,NM_206933.2;	uc001hku.1	c.8446A>C	8833/18883	3	3			c.8446A>C						1	SNP	c.(8446-8448)ACT>CCT	1	1			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	Broad	usherin isoform B			216052218		0.458	ENSG00000042781	16783	g.chr1:216052218T>G	maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding							227.556683	KEEP	30	44	-1	51	43	30	44	-1	227.90896	51	43	0.448718	1	0	0	0	0	1	0	0	0	--	--	HNSCC(13;0.011)	0	G				15	GBM-06-0129-TP	p.T2816P	T	GTGGGGTGAGTGGTAACATAG	NM_206933	NP_996816	216052218	O75445	USH2A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	42	8833	-	G	G			Missense_Mutation	2816			Extracellular (Potential).			
USH2A	7399	broad.mit.edu	GRCh37	1	215814045	215814045	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0168-01	TCGA-06-0168-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307340.3:c.14823C>T	p.Asp4941=	p.D4941=	ENST00000307340	NM_206933.2	4941	gaC/gaT	0			1			A	D	uc001hku.1	protein_coding	YES	CCDS31025.1			14823/15609									ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	c.(14821-14823)GAC>GAT			hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170	usherin isoform B				ENSP00000305941		68/72									COSM2150212,COSM3400293	68/72	.		ENST00000307340	Transcript	1		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	ENSG00000042781	g.chr1:215814045G>A	12601			LOW								--	--	1				HNSCC(13;0.011)																															1,1	1			p.D4941D	NM_206933	NP_996816			1,1	USH2A_HUMAN	USH2A	HGNC	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)			68	15210	-			UPI000034E5B6	4941			Fibronectin type-III 35.|Extracellular (Potential).		SNV	USH2A,synonymous_variant,p.=,ENST00000366943,;USH2A,synonymous_variant,p.=,ENST00000307340,NM_206933.2;	uc001hku.1	c.14823C>T	15210/18883	2	2			c.14823C>T						1	SNP	c.(14821-14823)GAC>GAT	45	45			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	Broad	usherin isoform B			215814045		0.507	ENSG00000042781	16783	g.chr1:215814045G>A	maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding							176.873176	KEEP	38	35	-1	43	52	38	35	-1	177.440471	43	52	0.431655	1	0	0	0	0	0	0	1	0	--	--	HNSCC(13;0.011)	0	A				33	GBM-06-0168-TP	p.D4941D	G	ACAAATTGCTGTCCACCGAAA	NM_206933	NP_996816	215814045	O75445	USH2A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	68	15210	-	A	A			Silent	4941			Fibronectin type-III 35.|Extracellular (Potential).			
USH2A	7399	broad.mit.edu	GRCh37	1	216143995	216143995	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs151057466	by1000genomes	TCGA-06-0214-01	TCGA-06-0214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307340.3:c.6929C>T	p.Thr2310Met	p.T2310M	ENST00000307340	NM_206933.2	2310	aCg/aTg	0	A:0.0002	A:0.0008	1	A:0.0014		A	T/M	uc001hku.1	protein_coding	YES	CCDS31025.1			6929/15609									ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	c.(6928-6930)ACG>ATG			Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	usherin isoform B		A:0	A:0	ENSP00000305941	A:0.001	36/72	8.24E-05	0.000192	8.73E-05	0.000463		4.50E-05			rs151057466,COSM146082,COSM3400309	36/72	common_variant		ENST00000307340	Transcript	1	A:0.0006	maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	ENSG00000042781	g.chr1:216143995G>A	12601			MODERATE		3.82	high	getma.org/?cm=msa&ty=f&p=USH2A_HUMAN&rb=2241&re=2325&var=T2310M	getma.org/pdb.php?prot=USH2A_HUMAN&from=2241&to=2325&var=T2310M	getma.org/?cm=var&var=hg19,1,216143995,G,A&fts=all	T2310M	--	--	1				HNSCC(13;0.011)																															0,1,1	1		probably_damaging(0.969)	p.T2310M	NM_206933	NP_996816	A:0		0,1,1	USH2A_HUMAN	USH2A	HGNC	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)			36	7316	-			UPI000034E5B6	2310			Fibronectin type-III 9.|Extracellular (Potential).		SNV	USH2A,missense_variant,p.Thr2310Met,ENST00000366943,;USH2A,missense_variant,p.Thr2310Met,ENST00000307340,NM_206933.2;	uc001hku.1	c.6929C>T	7316/18883	2	2			c.6929C>T						1	SNP	c.(6928-6930)ACG>ATG	45	45			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	Broad	usherin isoform B			216143995		0.408	ENSG00000042781	16783	g.chr1:216143995G>A	maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding							136.21655	KEEP	28	25	-1	69	50	28	25	-1	141.014815	69	50	0.314103	1	0	0	0	0	1	0	0	0	--	--	HNSCC(13;0.011)	0	A				50	GBM-06-0214-TP	p.T2310M	G	ACCTTTGGCCGTGCATGCTTG	NM_206933	NP_996816	216143995	O75445	USH2A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	36	7316	-	A	A			Missense_Mutation	2310			Fibronectin type-III 9.|Extracellular (Potential).			
USH2A	7399	broad.mit.edu	GRCh37	1	215933077	215933077	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0237-01	TCGA-06-0237-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307340.3:c.11156G>A	p.Arg3719His	p.R3719H	ENST00000307340	NM_206933.2	3719	cGt/cAt	0			1			T	R/H	uc001hku.1	protein_coding	YES	CCDS31025.1			11156/15609						likely_pathogenic			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	c.(11155-11157)CGT>CAT			Superfamily_domains:SSF49265,Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	usherin isoform B				ENSP00000305941		57/72	5.77E-05	0.000192	0.00026	0.000116				6.06E-05	rs527236139,COSM1338822,COSM3400301	57/72	.		ENST00000307340	Transcript	1		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	ENSG00000042781	g.chr1:215933077C>T	12601			MODERATE		2.3	medium	getma.org/?cm=msa&ty=f&p=USH2A_HUMAN&rb=3677&re=3767&var=R3719H	getma.org/pdb.php?prot=USH2A_HUMAN&from=3677&to=3767&var=R3719H	getma.org/?cm=var&var=hg19,1,215933077,C,T&fts=all	R3719H	--	--	1				HNSCC(13;0.011)																															1,1,1	1		probably_damaging(0.991)	p.R3719H	NM_206933	NP_996816			0,1,1	USH2A_HUMAN	USH2A	HGNC	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)			57	11543	-			UPI000034E5B6	3719			Fibronectin type-III 22.|Extracellular (Potential).		SNV	USH2A,missense_variant,p.Arg3719His,ENST00000366943,;USH2A,missense_variant,p.Arg3719His,ENST00000307340,NM_206933.2;	uc001hku.1	c.11156G>A	11543/18883	1	1			c.11156G>A						1	SNP	c.(11155-11157)CGT>CAT	8	8			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	Broad	usherin isoform B			215933077		0.408	ENSG00000042781	16783	g.chr1:215933077C>T	maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding							235.279935	KEEP	43	37	-1	63	44	43	37	-1	235.785955	63	44	0.44186	1	0	0	0	0	1	0	0	0	--	--	HNSCC(13;0.011)	0	T				54	GBM-06-0237-TP	p.R3719H	C	GTTTCCATTACGACTCAATTG	NM_206933	NP_996816	215933077	O75445	USH2A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	57	11543	-	T	T			Missense_Mutation	3719			Fibronectin type-III 22.|Extracellular (Potential).			
USH2A	7399	broad.mit.edu	GRCh37	1	216595737	216595737	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T			TCGA-06-0686-01	TCGA-06-0686-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307340.3:c.-59G>A		p.*20*	ENST00000307340	NM_206933.2			0		T:0.0008	1	T:0		T		uc001hku.1	protein_coding	YES	CCDS31025.1			-/15609									ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	c.(-60--56)GCGTG>GCATG				usherin isoform B		T:0		ENSP00000305941	T:0	Feb-72									rs539639539	Feb-72	.		ENST00000307340	Transcript	1	T:0.0002	maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	ENSG00000042781	g.chr1:216595737C>T	12601			MODIFIER								--	--	1				HNSCC(13;0.011)																														USH2A_uc001hkv.2_Translation_Start_Site		1				NM_206933	NP_996816	T:0			USH2A_HUMAN	USH2A	HGNC	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)			2	329	-			UPI000034E5B6						SNV	USH2A,5_prime_UTR_variant,,ENST00000366943,;USH2A,5_prime_UTR_variant,,ENST00000307340,NM_206933.2;USH2A,5_prime_UTR_variant,,ENST00000366942,NM_007123.5;	uc001hku.1	c.-58G>A	329/18883	2	2			c.-58G>A						1	SNP	c.(-60--56)GCGTG>GCATG	20	20			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	Broad	usherin isoform B			216595737		0.408	ENSG00000042781	16783	g.chr1:216595737C>T	maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding							40.774616	KEEP	4	10	-1	9	7	4	10	-1	40.841635	9	7	0.448276	1	0	0	0	0	0	0	0	0	--	--	HNSCC(13;0.011)	0	T			USH2A_uc001hkv.2_Translation_Start_Site	64	GBM-06-0686-TP		C	ATCAGGCCCACGCCACTTGCC	NM_206933	NP_996816	216595737	O75445	USH2A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	2	329	-	T	T			Translation_Start_Site							
USH2A	7399	broad.mit.edu	GRCh37	1	215933077	215933077	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01	TCGA-06-5415-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307340.3:c.11156G>A	p.Arg3719His	p.R3719H	ENST00000307340	NM_206933.2	3719	cGt/cAt	0			1			T	R/H	uc001hku.1	protein_coding	YES	CCDS31025.1			11156/15609						likely_pathogenic			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	c.(11155-11157)CGT>CAT			Superfamily_domains:SSF49265,Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	usherin isoform B				ENSP00000305941		57/72	5.77E-05	0.000192	0.00026	0.000116				6.06E-05	rs527236139,COSM1338822,COSM3400301	57/72	.		ENST00000307340	Transcript	1		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	ENSG00000042781	g.chr1:215933077C>T	12601			MODERATE		2.3	medium	getma.org/?cm=msa&ty=f&p=USH2A_HUMAN&rb=3677&re=3767&var=R3719H	getma.org/pdb.php?prot=USH2A_HUMAN&from=3677&to=3767&var=R3719H	getma.org/?cm=var&var=hg19,1,215933077,C,T&fts=all	R3719H	--	--	1				HNSCC(13;0.011)																															1,1,1	1		probably_damaging(0.991)	p.R3719H	NM_206933	NP_996816			0,1,1	USH2A_HUMAN	USH2A	HGNC	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)			57	11543	-			UPI000034E5B6	3719			Fibronectin type-III 22.|Extracellular (Potential).		SNV	USH2A,missense_variant,p.Arg3719His,ENST00000366943,;USH2A,missense_variant,p.Arg3719His,ENST00000307340,NM_206933.2;	uc001hku.1	c.11156G>A	11543/18883	1	1			c.11156G>A						1	SNP	c.(11155-11157)CGT>CAT	8	8			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	Broad	usherin isoform B			215933077		0.408	ENSG00000042781	16783	g.chr1:215933077C>T	maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding							184.520787	KEEP	28	40	-1	43	53	28	40	-1	185.721646	43	53	0.405229	1	0	0	0	0	1	0	0	0	--	--	HNSCC(13;0.011)	0	T				98	GBM-06-5415-TP	p.R3719H	C	GTTTCCATTACGACTCAATTG	NM_206933	NP_996816	215933077	O75445	USH2A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	57	11543	-	T	T			Missense_Mutation	3719			Fibronectin type-III 22.|Extracellular (Potential).			
USH2A	7399	broad.mit.edu	GRCh37	1	215799138	215799138	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-6388-01	TCGA-06-6388-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307340.3:c.15594A>G	p.Thr5198=	p.T5198=	ENST00000307340	NM_206933.2	5198	acA/acG	0			1			C	T	uc001hku.1	protein_coding	YES	CCDS31025.1			15594/15609									ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	c.(15592-15594)ACA>ACG				usherin isoform B				ENSP00000305941		72/72									COSM3400291,COSM3400292	72/72	.		ENST00000307340	Transcript	1		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	ENSG00000042781	g.chr1:215799138T>C	12601			LOW								--	--	1				HNSCC(13;0.011)																															1,1	1			p.T5198T	NM_206933	NP_996816			1,1	USH2A_HUMAN	USH2A	HGNC	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)			72	15981	-			UPI000034E5B6	5198			Cytoplasmic (Potential).		SNV	USH2A,synonymous_variant,p.=,ENST00000366943,;USH2A,synonymous_variant,p.=,ENST00000307340,NM_206933.2;KCTD3,downstream_gene_variant,,ENST00000259154,NM_016121.3;SNORD116,downstream_gene_variant,,ENST00000365628,;KCTD3,downstream_gene_variant,,ENST00000495537,;	uc001hku.1	c.15594A>G	15981/18883	4	4			c.15594A>G						1	SNP	c.(15592-15594)ACA>ACG	36	36			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	Broad	usherin isoform B			215799138		0.463	ENSG00000042781	16783	g.chr1:215799138T>C	maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding							-7.32926	KEEP	2	1	-1	35	39	2	1	-1	6.397001	35	39	0.047619	1	0	0	0	0	0	0	1	0	--	--	HNSCC(13;0.011)	0	C				104	GBM-06-6388-TP	p.T5198T	T	GGTGGGTGTCTGTGAATGTGG	NM_206933	NP_996816	215799138	O75445	USH2A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	72	15981	-	C	C			Silent	5198			Cytoplasmic (Potential).			
USH2A	0	broad.mit.edu	GRCh37	1	216138718	216138718	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01	TCGA-14-3476-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307340.3:c.7061G>A	p.Arg2354His	p.R2354H	ENST00000307340	NM_206933.2	2354	cGc/cAc	0		T:0	1	T:0		T	R/H	uc001hku.1	protein_coding	YES	CCDS31025.1			7061/15609									ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	c.(7060-7062)CGC>CAC			Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	usherin isoform B		T:0		ENSP00000305941	T:0.001	37/72	4.94E-05		8.69E-05			7.49E-05			rs201386640,COSM173287,COSM3400308	37/72	.		ENST00000307340	Transcript	1	T:0.0002	maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	ENSG00000042781	g.chr1:216138718C>T	12601			MODERATE		-1.32	neutral	getma.org/?cm=msa&ty=f&p=USH2A_HUMAN&rb=2328&re=2432&var=R2354H	NA	getma.org/?cm=var&var=hg19,1,216138718,C,T&fts=all	R2354H	--	--	1				HNSCC(13;0.011)																															0,1,1	1		benign(0.001)	p.R2354H	NM_206933	NP_996816	T:0		0,1,1	USH2A_HUMAN	USH2A	HGNC	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)			37	7448	-			UPI000034E5B6	2354		R -> H (in USH2A).	Extracellular (Potential).|Fibronectin type-III 10.		SNV	USH2A,missense_variant,p.Arg2354His,ENST00000366943,;USH2A,missense_variant,p.Arg2354His,ENST00000307340,NM_206933.2;	uc001hku.1	c.7061G>A	7448/18883	2	2			c.7061G>A						1	SNP	c.(7060-7062)CGC>CAC	30	30			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	Broad	usherin isoform B			216138718		0.403	ENSG00000042781	16783	g.chr1:216138718C>T	maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding							176.858803	KEEP	37	42	-1	112	119	37	42	-1	188.641516	112	119	0.272727	1	0	0	0	0	1	0	0	0	--	--	HNSCC(13;0.011)	0	T				151	GBM-14-3476-TP	p.R2354H	C	TCCATTAGGGCGAAAAGGTGC	NM_206933	NP_996816	216138718	O75445	USH2A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	37	7448	-	T	T			Missense_Mutation	2354		R -> H (in USH2A).	Extracellular (Potential).|Fibronectin type-III 10.			
USH2A	0	broad.mit.edu	GRCh37	1	216348801	216348801	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-26-1442-01	TCGA-26-1442-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307340.3:c.4420C>G	p.Leu1474Val	p.L1474V	ENST00000307340	NM_206933.2	1474	Ctg/Gtg	0			1			C	L/V	uc001hku.1	protein_coding	YES	CCDS31025.1			4420/15609									ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	c.(4420-4422)CTG>GTG			Low_complexity_(Seg):seg,Superfamily_domains:SSF49265,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	usherin isoform B				ENSP00000305941		21/72									COSM3400312,COSM3400313,COSM3400314	21/72	.		ENST00000307340	Transcript	1		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	ENSG00000042781	g.chr1:216348801G>C	12601			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=USH2A_HUMAN&rb=1458&re=1547&var=L1474V	NA	getma.org/?cm=var&var=hg19,1,216348801,G,C&fts=all	L1474V	--	--	1				HNSCC(13;0.011)																														USH2A_uc001hkv.2_Missense_Mutation_p.L1474V	1,1,1	1		benign(0.002)	p.L1474V	NM_206933	NP_996816			1,1,1	USH2A_HUMAN	USH2A	HGNC	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)			21	4807	-			UPI000034E5B6	1474			Extracellular (Potential).		SNV	USH2A,missense_variant,p.Leu1474Val,ENST00000366943,;USH2A,missense_variant,p.Leu1474Val,ENST00000307340,NM_206933.2;USH2A,missense_variant,p.Leu1474Val,ENST00000366942,NM_007123.5;	uc001hku.1	c.4420C>G	4807/18883	3	3			c.4420C>G						1	SNP	c.(4420-4422)CTG>GTG	4	4			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	Broad	usherin isoform B			216348801		0.403	ENSG00000042781	16783	g.chr1:216348801G>C	maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding							6.811043	KEEP	1	2	-1	15	7	1	2	-1	9.16002	15	7	0.15	1	0	0	0	0	1	0	0	0	--	--	HNSCC(13;0.011)	0	C			USH2A_uc001hkv.2_Missense_Mutation_p.L1474V	180	GBM-26-1442-TP	p.L1474V	G	CCTTTAACCAGAGGTGGCCTC	NM_206933	NP_996816	216348801	O75445	USH2A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	21	4807	-	C	C			Missense_Mutation	1474			Extracellular (Potential).			
USH2A	0	broad.mit.edu	GRCh37	1	215853692	215853692	+	synonymous_variant	Silent	SNP	G	G	A	rs55921307	byFrequency	TCGA-28-2513-01	TCGA-28-2513-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307340.3:c.12093C>T	p.Tyr4031=	p.Y4031=	ENST00000307340	NM_206933.2	4031	taC/taT	0	A:0.0009	A:0	1	A:0.0029		A	Y	uc001hku.1	protein_coding	YES	CCDS31025.1			12093/15609						benign			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	c.(12091-12093)TAC>TAT			Superfamily_domains:SSF49265,Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	usherin isoform B		A:0	A:0.004	ENSP00000305941	A:0.002	62/72	0.00294	0.000391	0.00217	0.000116	0.000454	0.00462	0.00551	0.000666	rs55921307,COSM3400297,COSM3400298	62/72	common_variant		ENST00000307340	Transcript	1	A:0.0008	maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	ENSG00000042781	g.chr1:215853692G>A	12601			LOW								--	--	1				HNSCC(13;0.011)																															1,1,1	1			p.Y4031Y	NM_206933	NP_996816	A:0		0,1,1	USH2A_HUMAN	USH2A	HGNC	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)			62	12480	-			UPI000034E5B6	4031			Fibronectin type-III 25.|Extracellular (Potential).		SNV	USH2A,synonymous_variant,p.=,ENST00000366943,;USH2A,synonymous_variant,p.=,ENST00000307340,NM_206933.2;	uc001hku.1	c.12093C>T	12480/18883	2	2			c.12093C>T						1	SNP	c.(12091-12093)TAC>TAT	45	45			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	Broad	usherin isoform B			215853692		0.388	ENSG00000042781	16783	g.chr1:215853692G>A	maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding							9.279255	KEEP	9	19	-1	127	131	9	19	-1	50.872	127	131	0.089796	1	0	0	0	0	0	0	1	0	--	--	HNSCC(13;0.011)	0	A				213	GBM-28-2513-TP	p.Y4031Y	G	GTTCTAACCCGTACAGGTGGG	NM_206933	NP_996816	215853692	O75445	USH2A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	62	12480	-	A	A			Silent	4031			Fibronectin type-III 25.|Extracellular (Potential).			
USH2A	0	broad.mit.edu	GRCh37	1	216465647	216465647	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-28-5207-01	TCGA-28-5207-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307340.3:c.1710C>G	p.Phe570Leu	p.F570L	ENST00000307340	NM_206933.2	570	ttC/ttG	0			1			C	F/L	uc001hku.1	protein_coding	YES	CCDS31025.1			1710/15609									ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	c.(1708-1710)TTC>TTG			SMART_domains:SM00180,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50027	usherin isoform B				ENSP00000305941		Oct-72									COSM2157324,COSM3400320,COSM3400321	Oct-72	.		ENST00000307340	Transcript	1		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	ENSG00000042781	g.chr1:216465647G>C	12601			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=USH2A_HUMAN&rb=518&re=574&var=F570L	getma.org/pdb.php?prot=USH2A_HUMAN&from=518&to=574&var=F570L	getma.org/?cm=var&var=hg19,1,216465647,G,C&fts=all	F570L	--	--	1				HNSCC(13;0.011)																														USH2A_uc001hkv.2_Missense_Mutation_p.F570L	1,1,1	1		benign(0.023)	p.F570L	NM_206933	NP_996816			1,1,1	USH2A_HUMAN	USH2A	HGNC	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)			10	2097	-			UPI000034E5B6	570			Laminin EGF-like 1.|Extracellular (Potential).		SNV	USH2A,missense_variant,p.Phe570Leu,ENST00000366943,;USH2A,missense_variant,p.Phe570Leu,ENST00000307340,NM_206933.2;USH2A,missense_variant,p.Phe570Leu,ENST00000366942,NM_007123.5;	uc001hku.1	c.1710C>G	2097/18883	3	3			c.1710C>G						1	SNP	c.(1708-1710)TTC>TTG	59	59			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	Broad	usherin isoform B			216465647		0.413	ENSG00000042781	16783	g.chr1:216465647G>C	maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding							155.366165	KEEP	22	22	-1	36	47	22	22	-1	157.779452	36	47	0.352	1	0	0	0	0	1	0	0	0	--	--	HNSCC(13;0.011)	0	C			USH2A_uc001hkv.2_Missense_Mutation_p.F570L	216	GBM-28-5207-TP	p.F570L	G	GTTTACAATTGAAAGCGTAAA	NM_206933	NP_996816	216465647	O75445	USH2A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	10	2097	-	C	C			Missense_Mutation	570			Laminin EGF-like 1.|Extracellular (Potential).			
USH2A	0	broad.mit.edu	GRCh37	1	216595382	216595382	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5211-01	TCGA-28-5211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307340.3:c.297C>T	p.Ala99=	p.A99=	ENST00000307340	NM_206933.2	99	gcC/gcT	0			1			A	A	uc001hku.1	protein_coding	YES	CCDS31025.1			297/15609								p.A99V(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	c.(295-297)GCC>GCT			hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170	usherin isoform B				ENSP00000305941		Feb-72									COSM3400325,COSM3400326,COSM3400327	Feb-72	.		ENST00000307340	Transcript	1		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	ENSG00000042781	g.chr1:216595382G>A	12601			LOW								--	--	1				HNSCC(13;0.011)																														USH2A_uc001hkv.2_Silent_p.A99A	1,1,1	1			p.A99A	NM_206933	NP_996816			1,1,1	USH2A_HUMAN	USH2A	HGNC	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)			2	684	-			UPI000034E5B6	99			Extracellular (Potential).		SNV	USH2A,synonymous_variant,p.=,ENST00000366943,;USH2A,synonymous_variant,p.=,ENST00000307340,NM_206933.2;USH2A,synonymous_variant,p.=,ENST00000366942,NM_007123.5;	uc001hku.1	c.297C>T	684/18883	2	2			c.297C>T						1	SNP	c.(295-297)GCC>GCT	27	27		p.A99V(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	Broad	usherin isoform B			216595382		0.453	ENSG00000042781	16783	g.chr1:216595382G>A	maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding							-3.514415	KEEP	0	4	-1	25	30	0	4	-1	7.061568	25	30	0.071429	1	0	0	0	0	0	0	1	0	--	--	HNSCC(13;0.011)	0	A			USH2A_uc001hkv.2_Silent_p.A99A	219	GBM-28-5211-TP	p.A99A	G	CTGAGAAAAGGGCAGTGTAGG	NM_206933	NP_996816	216595382	O75445	USH2A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	2	684	-	A	A			Silent	99			Extracellular (Potential).			
USH2A	0	broad.mit.edu	GRCh37	1	216061963	216061963	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-5214-01	TCGA-28-5214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307340.3:c.8028G>A	p.Pro2676=	p.P2676=	ENST00000307340	NM_206933.2	2676	ccG/ccA	0			1			T	P	uc001hku.1	protein_coding	YES	CCDS31025.1			8028/15609									ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	c.(8026-8028)CCG>CCA			SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	usherin isoform B				ENSP00000305941		41/72	2.47E-05					4.50E-05			rs766443785,COSM3400306,COSM3400307	41/72	.		ENST00000307340	Transcript	1		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	ENSG00000042781	g.chr1:216061963C>T	12601			LOW								--	--	1				HNSCC(13;0.011)																															0,1,1	1			p.P2676P	NM_206933	NP_996816			0,1,1	USH2A_HUMAN	USH2A	HGNC	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)			41	8415	-			UPI000034E5B6	2676			Extracellular (Potential).|Fibronectin type-III 13.		SNV	USH2A,synonymous_variant,p.=,ENST00000366943,;USH2A,synonymous_variant,p.=,ENST00000307340,NM_206933.2;RP5-1111A8.3,intron_variant,,ENST00000414995,;	uc001hku.1	c.8028G>A	8415/18883	1	1			c.8028G>A						1	SNP	c.(8026-8028)CCG>CCA	1	1			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	Broad	usherin isoform B			216061963		0.468	ENSG00000042781	16783	g.chr1:216061963C>T	maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding							219.796816	KEEP	36	41	-1	54	44	36	41	-1	220.310102	54	44	0.441176	1	0	0	0	0	0	0	1	0	--	--	HNSCC(13;0.011)	0	T				221	GBM-28-5214-TP	p.P2676P	C	AATGACTCCTCGGGAGAGTCA	NM_206933	NP_996816	216061963	O75445	USH2A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	41	8415	-	T	T			Silent	2676			Extracellular (Potential).|Fibronectin type-III 13.			
USH2A	0	broad.mit.edu	GRCh37	1	216371751	216371751	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307340.3:c.3987G>T	p.Leu1329Phe	p.L1329F	ENST00000307340	NM_206933.2	1329	ttG/ttT	0			1			A	L/F	uc001hku.1	protein_coding	YES	CCDS31025.1			3987/15609									ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	c.(3985-3987)TTG>TTT			Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	usherin isoform B				ENSP00000305941		18/72	8.24E-06								rs768796239,COSM3747825,COSM3747826,COSM3747827	18/72	.		ENST00000307340	Transcript	1		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	ENSG00000042781	g.chr1:216371751C>A	12601			MODERATE		3.945	high	getma.org/?cm=msa&ty=f&p=USH2A_HUMAN&rb=1243&re=1351&var=L1329F	getma.org/pdb.php?prot=USH2A_HUMAN&from=1243&to=1351&var=L1329F	getma.org/?cm=var&var=hg19,1,216371751,C,A&fts=all	L1329F	--	--	1				HNSCC(13;0.011)																														USH2A_uc001hkv.2_Missense_Mutation_p.L1329F	0,1,1,1	1		probably_damaging(0.999)	p.L1329F	NM_206933	NP_996816			0,1,1,1	USH2A_HUMAN	USH2A	HGNC	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)			18	4374	-			UPI000034E5B6	1329			Fibronectin type-III 3.|Extracellular (Potential).		SNV	USH2A,missense_variant,p.Leu1329Phe,ENST00000366943,;USH2A,missense_variant,p.Leu1329Phe,ENST00000307340,NM_206933.2;USH2A,missense_variant,p.Leu1329Phe,ENST00000366942,NM_007123.5;RP5-1099E6.3,intron_variant,,ENST00000420867,;MRPS18BP1,downstream_gene_variant,,ENST00000414228,;	uc001hku.1	c.3987G>T	4374/18883	2	2			c.3987G>T						1	SNP	c.(3985-3987)TTG>TTT	43	43			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	Broad	usherin isoform B			216371751		0.443	ENSG00000042781	16783	g.chr1:216371751C>A	maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding							-36.21533	KEEP	10	7	0.411764706	125	93	10	7	0.411764706	6.842263	125	93	0.033149	1	0	0	0	0	1	0	0	0	--	--	HNSCC(13;0.011)	0	A			USH2A_uc001hkv.2_Missense_Mutation_p.L1329F	229	GBM-32-1977-TP	p.L1329F	C	TGTATGGCTCCAAGCCAGTGA	NM_206933	NP_996816	216371751	O75445	USH2A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	18	4374	-	A	A			Missense_Mutation	1329			Fibronectin type-III 3.|Extracellular (Potential).			
USH2A	0	broad.mit.edu	GRCh37	1	215820917	215820917	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-1980-01	TCGA-32-1980-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307340.3:c.14738A>G	p.Asn4913Ser	p.N4913S	ENST00000307340	NM_206933.2	4913	aAc/aGc	0			1			C	N/S	uc001hku.1	protein_coding	YES	CCDS31025.1			14738/15609									ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	c.(14737-14739)AAC>AGC			Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	usherin isoform B				ENSP00000305941		67/72									COSM3400294,COSM3400295	67/72	.		ENST00000307340	Transcript	1		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	ENSG00000042781	g.chr1:215820917T>C	12601			MODERATE		2.855	medium	getma.org/?cm=msa&ty=f&p=USH2A_HUMAN&rb=4827&re=4922&var=N4913S	getma.org/pdb.php?prot=USH2A_HUMAN&from=4827&to=4922&var=N4913S	getma.org/?cm=var&var=hg19,1,215820917,T,C&fts=all	N4913S	--	--	1				HNSCC(13;0.011)																															1,1	1		probably_damaging(0.913)	p.N4913S	NM_206933	NP_996816			1,1	USH2A_HUMAN	USH2A	HGNC	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)			67	15125	-			UPI000034E5B6	4913			Extracellular (Potential).|Fibronectin type-III 34.		SNV	USH2A,missense_variant,p.Asn4913Ser,ENST00000366943,;USH2A,missense_variant,p.Asn4913Ser,ENST00000307340,NM_206933.2;	uc001hku.1	c.14738A>G	15125/18883	3	3			c.14738A>G						1	SNP	c.(14737-14739)AAC>AGC	59	59			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	Broad	usherin isoform B			215820917		0.478	ENSG00000042781	16783	g.chr1:215820917T>C	maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding							-4.510798	KEEP	1	3	-1	23	39	1	3	-1	7.740394	23	39	0.065574	1	0	0	0	0	1	0	0	0	--	--	HNSCC(13;0.011)	0	C				231	GBM-32-1980-TP	p.N4913S	T	GCCCACCTCGTTGTGTGCCAC	NM_206933	NP_996816	215820917	O75445	USH2A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	67	15125	-	C	C			Missense_Mutation	4913			Extracellular (Potential).|Fibronectin type-III 34.			
USH2A	0	broad.mit.edu	GRCh37	1	216052106	216052106	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-1986-01	TCGA-32-1986-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307340.3:c.8558G>T	p.Arg2853Ile	p.R2853I	ENST00000307340	NM_206933.2	2853	aGa/aTa	0			1			A	R/I	uc001hku.1	protein_coding	YES	CCDS31025.1			8558/15609									ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	c.(8557-8559)AGA>ATA			Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	usherin isoform B				ENSP00000305941		42/72									COSM3400304,COSM3400305	42/72	.		ENST00000307340	Transcript	1		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	ENSG00000042781	g.chr1:216052106C>A	12601			MODERATE		2.28	medium	getma.org/?cm=msa&ty=f&p=USH2A_HUMAN&rb=2822&re=2914&var=R2853I	NA	getma.org/?cm=var&var=hg19,1,216052106,C,A&fts=all	R2853I	--	--	1				HNSCC(13;0.011)																															1,1	1		probably_damaging(0.998)	p.R2853I	NM_206933	NP_996816			1,1	USH2A_HUMAN	USH2A	HGNC	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)			42	8945	-			UPI000034E5B6	2853			Extracellular (Potential).|Fibronectin type-III 15.		SNV	USH2A,missense_variant,p.Arg2853Ile,ENST00000366943,;USH2A,missense_variant,p.Arg2853Ile,ENST00000307340,NM_206933.2;	uc001hku.1	c.8558G>T	8945/18883	2	2			c.8558G>T						1	SNP	c.(8557-8559)AGA>ATA	33	33			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	Broad	usherin isoform B			216052106		0.393	ENSG00000042781	16783	g.chr1:216052106C>A	maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding							-5.907111	KEEP	2	1	0.333333333	25	37	2	1	0.333333333	6.408031	25	37	0.051724	1	0	0	0	0	1	0	0	0	--	--	HNSCC(13;0.011)	0	A				233	GBM-32-1986-TP	p.R2853I	C	CTTCTCTTACCTCAAATTAGG	NM_206933	NP_996816	216052106	O75445	USH2A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	42	8945	-	A	A			Missense_Mutation	2853			Extracellular (Potential).|Fibronectin type-III 15.			
USH2A	0	broad.mit.edu	GRCh37	1	216595556	216595556	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2638-01	TCGA-32-2638-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307340.3:c.123G>A	p.Glu41=	p.E41=	ENST00000307340	NM_206933.2	41	gaG/gaA	0			1			T	E	uc001hku.1	protein_coding	YES	CCDS31025.1			123/15609									ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	c.(121-123)GAG>GAA			hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170	usherin isoform B				ENSP00000305941		Feb-72									COSM3400328,COSM3400329,COSM3400330	Feb-72	.		ENST00000307340	Transcript	1		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	ENSG00000042781	g.chr1:216595556C>T	12601			LOW								--	--	1				HNSCC(13;0.011)																														USH2A_uc001hkv.2_Silent_p.E41E	1,1,1	1			p.E41E	NM_206933	NP_996816			1,1,1	USH2A_HUMAN	USH2A	HGNC	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)			2	510	-			UPI000034E5B6	41			Extracellular (Potential).		SNV	USH2A,synonymous_variant,p.=,ENST00000366943,;USH2A,synonymous_variant,p.=,ENST00000307340,NM_206933.2;USH2A,synonymous_variant,p.=,ENST00000366942,NM_007123.5;	uc001hku.1	c.123G>A	510/18883	2	2			c.123G>A						1	SNP	c.(121-123)GAG>GAA	34	34			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	Broad	usherin isoform B			216595556		0.473	ENSG00000042781	16783	g.chr1:216595556C>T	maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding							90.830917	KEEP	17	19	-1	38	23	17	19	-1	92.339021	38	23	0.357143	1	0	0	0	0	0	0	1	0	--	--	HNSCC(13;0.011)	0	T			USH2A_uc001hkv.2_Silent_p.E41E	242	GBM-32-2638-TP	p.E41E	C	CTCCCACGTTCTCCAGCCTTG	NM_206933	NP_996816	216595556	O75445	USH2A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	2	510	-	T	T			Silent	41			Extracellular (Potential).			
USH2A	0	broad.mit.edu	GRCh37	1	215848824	215848824	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307340.3:c.12429G>A	p.Ser4143=	p.S4143=	ENST00000307340	NM_206933.2	4143	tcG/tcA	0			1			T	S	uc001hku.1	protein_coding	YES	CCDS31025.1			12429/15609									ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	c.(12427-12429)TCG>TCA			Superfamily_domains:SSF49265,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853	usherin isoform B				ENSP00000305941		63/72	0.000107		0.000958	0.000117		1.51E-05			rs766310214,COSM209889,COSM3400296	63/72	common_variant		ENST00000307340	Transcript	1		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	ENSG00000042781	g.chr1:215848824C>T	12601			LOW								--	--	1				HNSCC(13;0.011)																															0,1,1	1			p.S4143S	NM_206933	NP_996816			0,1,1	USH2A_HUMAN	USH2A	HGNC	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)			63	12816	-			UPI000034E5B6	4143			Fibronectin type-III 26.|Extracellular (Potential).		SNV	USH2A,synonymous_variant,p.=,ENST00000366943,;USH2A,synonymous_variant,p.=,ENST00000307340,NM_206933.2;	uc001hku.1	c.12429G>A	12816/18883	1	1			c.12429G>A						1	SNP	c.(12427-12429)TCG>TCA	1	1			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	Broad	usherin isoform B			215848824		0.572	ENSG00000042781	16783	g.chr1:215848824C>T	maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding							74.00084	KEEP	13	15	-1	39	31	13	15	-1	76.924514	39	31	0.306818	1	0	0	0	0	0	0	1	0	--	--	HNSCC(13;0.011)	0	T				246	GBM-32-4211-TP	p.S4143S	C	GCTGAGGCGCCGAGTGTGCAC	NM_206933	NP_996816	215848824	O75445	USH2A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	12816	-	T	T			Silent	4143			Fibronectin type-III 26.|Extracellular (Potential).			
USH2A	0	broad.mit.edu	GRCh37	1	216256823	216256823	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-5222-01	TCGA-32-5222-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307340.3:c.5273A>G	p.Asn1758Ser	p.N1758S	ENST00000307340	NM_206933.2	1758	aAc/aGc	0			1			C	N/S	uc001hku.1	protein_coding	YES	CCDS31025.1			5273/15609									ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	c.(5272-5274)AAC>AGC			Superfamily_domains:SSF49899,SMART_domains:SM00282,Pfam_domain:PF02210,Gene3D:2.60.120.200,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50025	usherin isoform B				ENSP00000305941		26/72	8.24E-06							6.06E-05	rs767820497,COSM3400310,COSM3400311	26/72	.		ENST00000307340	Transcript	1		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	ENSG00000042781	g.chr1:216256823T>C	12601			MODERATE		0.995	low	getma.org/?cm=msa&ty=f&p=USH2A_HUMAN&rb=1744&re=1871&var=N1758S	getma.org/pdb.php?prot=USH2A_HUMAN&from=1744&to=1871&var=N1758S	getma.org/?cm=var&var=hg19,1,216256823,T,C&fts=all	N1758S	--	--	1				HNSCC(13;0.011)																															0,1,1	1		benign(0.113)	p.N1758S	NM_206933	NP_996816			0,1,1	USH2A_HUMAN	USH2A	HGNC	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)			26	5660	-			UPI000034E5B6	1758			Laminin G-like 2.|Extracellular (Potential).		SNV	USH2A,missense_variant,p.Asn1758Ser,ENST00000366943,;USH2A,missense_variant,p.Asn1758Ser,ENST00000307340,NM_206933.2;RP11-22M7.2,intron_variant,,ENST00000446411,;RP11-22M7.2,intron_variant,,ENST00000430890,;RP11-22M7.2,intron_variant,,ENST00000442606,;RP11-22M7.2,intron_variant,,ENST00000445619,;USH2A,non_coding_transcript_exon_variant,,ENST00000481786,;USH2A,non_coding_transcript_exon_variant,,ENST00000463147,;	uc001hku.1	c.5273A>G	5660/18883	3	3			c.5273A>G						1	SNP	c.(5272-5274)AAC>AGC	64	64			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	Broad	usherin isoform B			216256823		0.303	ENSG00000042781	16783	g.chr1:216256823T>C	maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding							361.915666	KEEP	61	66	-1	170	192	61	66	-1	384.239348	170	192	0.260465	1	0	0	0	0	1	0	0	0	--	--	HNSCC(13;0.011)	0	C				249	GBM-32-5222-TP	p.N1758S	T	TCCATCTTTGTTATAAACGAA	NM_206933	NP_996816	216256823	O75445	USH2A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	26	5660	-	C	C			Missense_Mutation	1758			Laminin G-like 2.|Extracellular (Potential).			
USH2A	0	broad.mit.edu	GRCh37	1	216419959	216419959	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs146916397	byFrequency	TCGA-81-5910-01	TCGA-81-5910-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307340.3:c.2777G>A	p.Arg926His	p.R926H	ENST00000307340	NM_206933.2	926	cGt/cAt	0	T:0		1			T	R/H	uc001hku.1	protein_coding	YES	CCDS31025.1			2777/15609						uncertain_significance			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	c.(2776-2778)CGT>CAT			Superfamily_domains:SSF57196,SMART_domains:SM00180,Pfam_domain:PF00053,Gene3D:2.10.25.10,PROSITE_patterns:PS01248,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50027	usherin isoform B			T:0.0001	ENSP00000305941		13/72	3.29E-05		8.65E-05			4.50E-05			rs146916397,COSM3400317,COSM3400318,COSM3400319	13/72	.		ENST00000307340	Transcript	1		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	ENSG00000042781	g.chr1:216419959C>T	12601			MODERATE		1.4	low	getma.org/?cm=msa&ty=f&p=USH2A_HUMAN&rb=900&re=948&var=R926H	getma.org/pdb.php?prot=USH2A_HUMAN&from=900&to=948&var=R926H	getma.org/?cm=var&var=hg19,1,216419959,C,T&fts=all	R926H	--	--	1				HNSCC(13;0.011)																														USH2A_uc001hkv.2_Missense_Mutation_p.R926H	1,1,1,1	1		benign(0.344)	p.R926H	NM_206933	NP_996816			0,1,1,1	USH2A_HUMAN	USH2A	HGNC	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)			13	3164	-			UPI000034E5B6	926			Laminin EGF-like 8.|Extracellular (Potential).		SNV	USH2A,missense_variant,p.Arg926His,ENST00000366943,;USH2A,missense_variant,p.Arg926His,ENST00000307340,NM_206933.2;USH2A,missense_variant,p.Arg926His,ENST00000366942,NM_007123.5;	uc001hku.1	c.2777G>A	3164/18883	2	2			c.2777G>A						1	SNP	c.(2776-2778)CGT>CAT	21	21			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	Broad	usherin isoform B			216419959		0.423	ENSG00000042781	16783	g.chr1:216419959C>T	maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding							113.531157	KEEP	13	31	-1	26	43	13	31	-1	114.611798	26	43	0.387755	1	0	0	0	0	1	0	0	0	--	--	HNSCC(13;0.011)	0	T			USH2A_uc001hkv.2_Missense_Mutation_p.R926H	289	GBM-81-5910-TP	p.R926H	C	TCTTCCTTGACGATTAGGCAC	NM_206933	NP_996816	216419959	O75445	USH2A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	13	3164	-	T	T			Missense_Mutation	926			Laminin EGF-like 8.|Extracellular (Potential).			
USH2A	7399		GRCh37	1	216498789	216498789	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000307340.3:c.1001G>A	p.Arg334Gln	p.R334Q	ENST00000307340	NM_206933.2	334	cGg/cAg	0																																																																																																																																																																																																																																												
USH2A	7399		GRCh37	1	215848243	215848243	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000307340.3:c.13010C>T	p.Thr4337Met	p.T4337M	ENST00000307340	NM_206933.2	4337	aCg/aTg	0																																																																																																																																																																																																																																												
USH2A	7399		GRCh37	1	216538373	216538373	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000307340.3:c.706C>T	p.Pro236Ser	p.P236S	ENST00000307340	NM_206933.2	236	Cct/Tct	0																																																																																																																																																																																																																																												
USH2A	7399		GRCh37	1	215931985	215931985	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000307340.3:c.11341A>G	p.Ile3781Val	p.I3781V	ENST00000307340	NM_206933.2	3781	Atc/Gtc	0																																																																																																																																																																																																																																												
USHBP1	83878	broad.mit.edu	GRCh37	19	17362437	17362437	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6390-01	TCGA-06-6390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252597.3:c.1876C>T	p.Arg626Trp	p.R626W	ENST00000252597	NM_031941.3	626	Cgg/Tgg	0			1			A	R/W	uc002nfs.1	protein_coding	YES	CCDS12353.1			1876/2112									ovary(1)	1	c.(1876-1878)CGG>TGG			hmmpanther:PTHR23347,hmmpanther:PTHR23347:SF5	Usher syndrome 1C binding protein 1				ENSP00000252597		13-Dec	5.77E-05	0.000385		0.000116		1.50E-05		6.06E-05	rs759256700,COSM992729	13-Dec	.		ENST00000252597	Transcript					PDZ domain binding	ENSG00000130307	g.chr19:17362437G>A	24058			MODERATE		1.78	low	getma.org/?cm=msa&ty=f&p=USBP1_HUMAN&rb=565&re=703&var=R626W	NA	getma.org/?cm=var&var=hg19,19,17362437,G,A&fts=all	R626W	--	--	1																																		USHBP1_uc002nfr.1_Missense_Mutation_p.R252W|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.R562W	0,1	1		possibly_damaging(0.852)	p.R626W	NM_031941	NP_114147		deleterious(0)	0,1	USBP1_HUMAN	USHBP1	HGNC	Q8N6Y0	USBP1_HUMAN			M0R3B1_HUMAN,M0R172_HUMAN		12	1989	-			UPI000006F7A8	626			Potential.		SNV	USHBP1,missense_variant,p.Arg626Trp,ENST00000252597,NM_031941.3;USHBP1,missense_variant,p.Arg562Trp,ENST00000431146,;AC010646.3,5_prime_UTR_variant,,ENST00000594059,;USHBP1,3_prime_UTR_variant,,ENST00000597928,;USHBP1,3_prime_UTR_variant,,ENST00000324554,;	uc002nfs.1	c.1876C>T	2050/3335	2	2			c.1876C>T						19	SNP	c.(1876-1878)CGG>TGG	38	38			ovary(1)	1	Broad	Usher syndrome 1C binding protein 1			17362437		0.607	ENSG00000130307	16784	g.chr19:17362437G>A			PDZ domain binding							-20.660833	KEEP	3	7	-1	91	100	3	7	-1	17.437883	91	100	0.050562	1	0	0	0	0	1	0	0	0	--	--		0	A			USHBP1_uc002nfr.1_Missense_Mutation_p.R252W|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.R562W	106	GBM-06-6390-TP	p.R626W	G	CTCTGAGACCGTCTGGCTCGC	NM_031941	NP_114147	17362437	Q8N6Y0	USBP1_HUMAN	0			12	1989	-	A	A			Missense_Mutation	626			Potential.			
USHBP1	0	broad.mit.edu	GRCh37	19	17366376	17366376	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01	TCGA-12-0615-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252597.3:c.1510C>T	p.Arg504Trp	p.R504W	ENST00000252597	NM_031941.3	504	Cgg/Tgg	0			1			A	R/W	uc002nfs.1	protein_coding	YES	CCDS12353.1			1510/2112									ovary(1)	1	c.(1510-1512)CGG>TGG			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23347,hmmpanther:PTHR23347:SF5,Low_complexity_(Seg):seg	Usher syndrome 1C binding protein 1				ENSP00000252597		13-Oct									COSM3403913	13-Oct	.		ENST00000252597	Transcript					PDZ domain binding	ENSG00000130307	g.chr19:17366376G>A	24058			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=USBP1_HUMAN&rb=365&re=564&var=R504W	NA	getma.org/?cm=var&var=hg19,19,17366376,G,A&fts=all	R504W	--	--	1																																		USHBP1_uc002nfr.1_Missense_Mutation_p.R130W|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.R440W	1	1		possibly_damaging(0.902)	p.R504W	NM_031941	NP_114147		deleterious(0)	1	USBP1_HUMAN	USHBP1	HGNC	Q8N6Y0	USBP1_HUMAN			M0R3B1_HUMAN,M0R172_HUMAN		10	1623	-			UPI000006F7A8	504			Potential.		SNV	USHBP1,missense_variant,p.Arg504Trp,ENST00000252597,NM_031941.3;USHBP1,missense_variant,p.Arg440Trp,ENST00000431146,;AC010646.3,upstream_gene_variant,,ENST00000594059,;USHBP1,3_prime_UTR_variant,,ENST00000597928,;USHBP1,3_prime_UTR_variant,,ENST00000324554,;	uc002nfs.1	c.1510C>T	1684/3335	2	2			c.1510C>T						19	SNP	c.(1510-1512)CGG>TGG	46	46			ovary(1)	1	Broad	Usher syndrome 1C binding protein 1			17366376		0.647	ENSG00000130307	16784	g.chr19:17366376G>A			PDZ domain binding							6.020636	KEEP	1	2	-1	26	16	1	2	-1	7.911245	26	16	0.166667	1	0	0	0	0	1	0	0	0	--	--		0	A			USHBP1_uc002nfr.1_Missense_Mutation_p.R130W|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.R440W	117	GBM-12-0615-TP	p.R504W	G	TTCTCACGCCGCACCAGCTGC	NM_031941	NP_114147	17366376	Q8N6Y0	USBP1_HUMAN	0			10	1623	-	A	A			Missense_Mutation	504			Potential.			
USHBP1	0	broad.mit.edu	GRCh37	19	17361108	17361108	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-3915-01	TCGA-41-3915-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252597.3:c.2038G>A	p.Glu680Lys	p.E680K	ENST00000252597	NM_031941.3	680	Gaa/Aaa	0			1			T	E/K	uc002nfs.1	protein_coding	YES	CCDS12353.1			2038/2112									ovary(1)	1	c.(2038-2040)GAA>AAA			hmmpanther:PTHR23347,hmmpanther:PTHR23347:SF5,Low_complexity_(Seg):seg	Usher syndrome 1C binding protein 1				ENSP00000252597		13/13	0.000107		8.79E-05	0.000117	0.000651	6.22E-05	0.00118	6.10E-05	rs756523964,COSM3748045	13/13	common_variant		ENST00000252597	Transcript					PDZ domain binding	ENSG00000130307	g.chr19:17361108C>T	24058			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=USBP1_HUMAN&rb=565&re=703&var=E680K	NA	getma.org/?cm=var&var=hg19,19,17361108,C,T&fts=all	E680K	--	--	1																																		USHBP1_uc002nfr.1_Missense_Mutation_p.E306K|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.E616K	0,1	1		possibly_damaging(0.466)	p.E680K	NM_031941	NP_114147		tolerated(0.17)	0,1	USBP1_HUMAN	USHBP1	HGNC	Q8N6Y0	USBP1_HUMAN			M0R3B1_HUMAN,M0R172_HUMAN		13	2151	-			UPI000006F7A8	680			Potential.		SNV	USHBP1,missense_variant,p.Glu680Lys,ENST00000252597,NM_031941.3;USHBP1,missense_variant,p.Glu616Lys,ENST00000431146,;AC010646.3,intron_variant,,ENST00000594059,;NR2F6,upstream_gene_variant,,ENST00000291442,NM_005234.3;USHBP1,3_prime_UTR_variant,,ENST00000597928,;USHBP1,3_prime_UTR_variant,,ENST00000324554,;	uc002nfs.1	c.2038G>A	2212/3335	1	1			c.2038G>A						19	SNP	c.(2038-2040)GAA>AAA	3	3			ovary(1)	1	Broad	Usher syndrome 1C binding protein 1			17361108		0.657	ENSG00000130307	16784	g.chr19:17361108C>T			PDZ domain binding							2.475175	KEEP	4	9	-1	19	37	4	9	-1	6.659346	19	37	0.129032	1	0	0	0	0	1	0	0	0	--	--		0	T			USHBP1_uc002nfr.1_Missense_Mutation_p.E306K|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.E616K	256	GBM-41-3915-TP	p.E680K	C	GCAGTGGCTTCGAGCACCGCC	NM_031941	NP_114147	17361108	Q8N6Y0	USBP1_HUMAN	0			13	2151	-	T	T			Missense_Mutation	680			Potential.			
USHBP1	0	broad.mit.edu	GRCh37	19	17375061	17375061	+	synonymous_variant	Silent	SNP	A	A	C			TCGA-76-4927-01	TCGA-76-4927-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252597.3:c.48T>G	p.Ala16=	p.A16=	ENST00000252597	NM_031941.3	16	gcT/gcG	0			1			C	A	uc002nfs.1	protein_coding	YES	CCDS12353.1			48/2112									ovary(1)	1	c.(46-48)GCT>GCG			hmmpanther:PTHR23347,hmmpanther:PTHR23347:SF5,Low_complexity_(Seg):seg	Usher syndrome 1C binding protein 1				ENSP00000252597		13-Feb									COSM3403914	13-Feb	.		ENST00000252597	Transcript					PDZ domain binding	ENSG00000130307	g.chr19:17375061A>C	24058			LOW								--	--	1																																		USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.L2R|USHBP1_uc010eam.1_5'UTR	1	1			p.A16A	NM_031941	NP_114147			1	USBP1_HUMAN	USHBP1	HGNC	Q8N6Y0	USBP1_HUMAN			M0R3B1_HUMAN,M0R172_HUMAN		2	161	-			UPI000006F7A8	16					SNV	USHBP1,missense_variant,p.Leu2Arg,ENST00000431146,;USHBP1,synonymous_variant,p.=,ENST00000252597,NM_031941.3;USHBP1,synonymous_variant,p.=,ENST00000594190,;USHBP1,synonymous_variant,p.=,ENST00000598309,;BABAM1,upstream_gene_variant,,ENST00000359435,NM_001033549.1;BABAM1,upstream_gene_variant,,ENST00000598188,NM_001288756.1;BABAM1,upstream_gene_variant,,ENST00000447614,;BABAM1,upstream_gene_variant,,ENST00000601043,NM_014173.2;BABAM1,upstream_gene_variant,,ENST00000595632,NM_001288757.1;BABAM1,upstream_gene_variant,,ENST00000602066,;BABAM1,upstream_gene_variant,,ENST00000601938,;BABAM1,upstream_gene_variant,,ENST00000599474,;BABAM1,upstream_gene_variant,,ENST00000596335,;BABAM1,upstream_gene_variant,,ENST00000601436,;BABAM1,upstream_gene_variant,,ENST00000599057,;BABAM1,upstream_gene_variant,,ENST00000598567,;USHBP1,non_coding_transcript_exon_variant,,ENST00000598570,;USHBP1,non_coding_transcript_exon_variant,,ENST00000595993,;BABAM1,upstream_gene_variant,,ENST00000448635,;USHBP1,synonymous_variant,p.=,ENST00000597928,;USHBP1,synonymous_variant,p.=,ENST00000324554,;USHBP1,non_coding_transcript_exon_variant,,ENST00000600286,;USHBP1,non_coding_transcript_exon_variant,,ENST00000596436,;BABAM1,upstream_gene_variant,,ENST00000595393,;CTD-2278I10.6,upstream_gene_variant,,ENST00000596542,;BABAM1,upstream_gene_variant,,ENST00000594247,;BABAM1,upstream_gene_variant,,ENST00000601171,;	uc002nfs.1	c.48T>G	222/3335	4	4			c.48T>G						19	SNP	c.(46-48)GCT>GCG	45	45			ovary(1)	1	Broad	Usher syndrome 1C binding protein 1			17375061		0.647	ENSG00000130307	16784	g.chr19:17375061A>C			PDZ domain binding							27.619912	KEEP	6	13	-1	38	43	6	13	-1	35.616184	38	43	0.186047	1	0	0	0	0	0	0	1	0	--	--		0	C			USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.L2R|USHBP1_uc010eam.1_5'UTR	267	GBM-76-4927-TP	p.A16A	A	TTACGGGTGGAGCATGCCTCC	NM_031941	NP_114147	17375061	Q8N6Y0	USBP1_HUMAN	0			2	161	-	C	C			Silent	16						
USP11	8237	broad.mit.edu	GRCh37	X	47102906	47102906	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-02-0055-01	TCGA-02-0055-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000218348.3:c.1824C>T	p.Tyr608=	p.Y608=	ENST00000218348	NM_004651.3	608	taC/taT	0			1			T	Y	uc004dhp.2	protein_coding	YES	CCDS14277.1			1824/2892									ovary(1)|lung(1)|central_nervous_system(1)	3	c.(1822-1824)TAC>TAT			Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF403	ubiquitin specific peptidase 11				ENSP00000218348		13/21	1.65E-05							9.93E-05	rs762232804,COSM2149069	13/21	.		ENST00000218348	Transcript			protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	ENSG00000102226	g.chrX:47102906C>T	12609			LOW								--	--	1																																		USP11_uc004dhq.2_Silent_p.Y335Y	0,1	1			p.Y608Y	NM_004651	NP_004642			0,1	UBP11_HUMAN	USP11	HGNC	P51784	UBP11_HUMAN			Q6P453_HUMAN,Q5JXD3_HUMAN,G5E9A6_HUMAN,B4DGK3_HUMAN,B3KP28_HUMAN		13	1824	+			UPI0000161434	608					SNV	USP11,synonymous_variant,p.=,ENST00000377107,;USP11,synonymous_variant,p.=,ENST00000218348,NM_004651.3;USP11,downstream_gene_variant,,ENST00000377078,;USP11,downstream_gene_variant,,ENST00000377080,;USP11,non_coding_transcript_exon_variant,,ENST00000469080,;USP11,non_coding_transcript_exon_variant,,ENST00000488848,;USP11,non_coding_transcript_exon_variant,,ENST00000480104,;USP11,downstream_gene_variant,,ENST00000478596,;USP11,upstream_gene_variant,,ENST00000497179,;USP11,upstream_gene_variant,,ENST00000467378,;USP11,downstream_gene_variant,,ENST00000489111,;USP11,downstream_gene_variant,,ENST00000489030,;	uc004dhp.2	c.1824C>T	1824/3289	2	2			c.1824C>T						23	SNP	c.(1822-1824)TAC>TAT	45	45			ovary(1)|lung(1)|central_nervous_system(1)	3	Broad	ubiquitin specific peptidase 11			47102906		0.592	ENSG00000102226	16789	g.chrX:47102906C>T	protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity							120.214637	KEEP	22	31	-1	78	68	22	31	-1	129.237689	78	68	0.265193	1	0	0	0	0	0	0	1	0	--	--		0	T			USP11_uc004dhq.2_Silent_p.Y335Y	4	GBM-02-0055-TP	p.Y608Y	C	ACTCCTACTACGGCCTGATGC	NM_004651	NP_004642	47102906	P51784	UBP11_HUMAN	0			13	1824	+	T	T			Silent	608						
USP12	0	broad.mit.edu	GRCh37	13	27664021	27664021	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282344.6:c.733C>T	p.Arg245Trp	p.R245W	ENST00000282344	NM_182488.3	245	Cgg/Tgg	0			1			A	R/W	uc001uqy.2	protein_coding	YES	CCDS31952.1			733/1113									lung(1)	1	c.(733-735)CGG>TGG			Gene3D:1nbfA02,Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR24619,hmmpanther:PTHR24619:SF120,Superfamily_domains:SSF54001	ubiquitin thiolesterase 12				ENSP00000282344		9-Jun	1.65E-05					3.08E-05			rs759422176,COSM432258	9-Jun	.		ENST00000282344	Transcript			protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	ENSG00000152484	g.chr13:27664021G>A	20485			MODERATE		3.56	high	getma.org/?cm=msa&ty=f&p=UBP12_HUMAN&rb=36&re=366&var=R245W	getma.org/pdb.php?prot=UBP12_HUMAN&from=36&to=366&var=R245W	getma.org/?cm=var&var=hg19,13,27664021,G,A&fts=all	R245W	--	--	1																																			0,1	1		possibly_damaging(0.7)	p.R245W	NM_182488	NP_872294		deleterious(0)	0,1	UBP12_HUMAN	USP12	HGNC	O75317	UBP12_HUMAN		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			6	986	-		Lung SC(185;0.0161)	UPI0000198DEE	245					SNV	USP12,missense_variant,p.Arg245Trp,ENST00000282344,NM_182488.3;	uc001uqy.2	c.733C>T	990/4497	2	2			c.733C>T						13	SNP	c.(733-735)CGG>TGG	25	25			lung(1)	1	Broad	ubiquitin thiolesterase 12			27664021		0.353	ENSG00000152484	16790	g.chr13:27664021G>A	protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	Ovarian(37;808 911 7590 44442 44991)			Ovarian(37;808 911 7590 44442 44991)			97.285699	KEEP	20	18	-1	41	43	20	18	-1	101.069149	41	43	0.307018	1	0	0	0	0	1	0	0	0	--	--		0	A				249	GBM-32-5222-TP	p.R245W	G	TAAAATTACCGTTTGTGTGCT	NM_182488	NP_872294	27664021	O75317	UBP12_HUMAN	0		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)	6	986	-	A	A		Lung SC(185;0.0161)	Missense_Mutation	245						
USP15	9958	broad.mit.edu	GRCh37	12	62785633	62785634	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-06-5418-01	TCGA-06-5418-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000280377.5:c.2278dup	p.Arg760LysfsTer4	p.R760Kfs*4	ENST00000280377	NM_001252078.1	757	-/A	0			1			A	-/X	uc001src.1	protein_coding	YES	CCDS58251.1			2271-2272/2946									ovary(2)|lung(1)	3	c.(2269-2274)TTGAAAfs			PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF387,hmmpanther:PTHR24006,Pfam_domain:PF00443	ubiquitin specific peptidase 15				ENSP00000280377		17/22										17/22	.		ENST00000280377	Transcript			protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	ENSG00000135655	g.chr12:62785633_62785634insA	12613	7		HIGH								--	--	1																																		USP15_uc001srb.1_Frame_Shift_Ins_p.L728fs		1			p.L757fs	NM_006313	NP_006304				UBP15_HUMAN	USP15	HGNC	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	F8VZG8_HUMAN,F8VVY7_HUMAN		17	2280_2281	+			UPI00001379F8	757_758					insertion	USP15,frameshift_variant,p.Arg760LysfsTer4,ENST00000280377,NM_001252078.1;USP15,frameshift_variant,p.Arg731LysfsTer4,ENST00000353364,NM_006313.2;USP15,frameshift_variant,p.Arg735LysfsTer4,ENST00000393654,;USP15,upstream_gene_variant,,ENST00000549415,;USP15,upstream_gene_variant,,ENST00000552346,;USP15,downstream_gene_variant,,ENST00000549268,;USP15,upstream_gene_variant,,ENST00000548620,;	uc001src.1	c.2271_2272insA	2329-2330/4748	5	5			c.2271_2272insA						12	INS	c.(2269-2274)TTGAAAfs	18	18			ovary(2)|lung(1)	3	Broad	ubiquitin specific peptidase 15			62785634		0.277	ENSG00000135655	16793	g.chr12:62785633_62785634insA	protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	Melanoma(181;615 2041 39364 49691 50001)			Melanoma(181;615 2041 39364 49691 50001)																0.29	1	0	0	1	1	0	0	0	0	--	--		0	A			USP15_uc001srb.1_Frame_Shift_Ins_p.L728fs	100	GBM-06-5418-TP	p.L757fs	-	ATCCTGATTTGAAAAAAAGATA	NM_006313	NP_006304	62785633	Q9Y4E8	UBP15_HUMAN	0	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	17	2280_2281	+	A	A			Frame_Shift_Ins	757_758						
USP15	9958	broad.mit.edu	GRCh37	12	62778015	62778015	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-6390-01	TCGA-06-6390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000280377.5:c.1405C>G	p.Pro469Ala	p.P469A	ENST00000280377	NM_001252078.1	469	Ccc/Gcc	0			1			G	P/A	uc001src.1	protein_coding	YES	CCDS58251.1			1405/2946									ovary(2)|lung(1)	3	c.(1405-1407)CCC>GCC			PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF387,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001	ubiquitin specific peptidase 15				ENSP00000280377		22-Nov									COSM2153450	22-Nov	.		ENST00000280377	Transcript			protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	ENSG00000135655	g.chr12:62778015C>G	12613			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=UBP15_HUMAN&rb=286&re=930&var=P469A	getma.org/pdb.php?prot=UBP15_HUMAN&from=286&to=930&var=P469A	getma.org/?cm=var&var=hg19,12,62778015,C,G&fts=all	P469A	--	--	1																																		USP15_uc001srb.1_Missense_Mutation_p.P440A	1	1		probably_damaging(0.999)	p.P469A	NM_006313	NP_006304		deleterious(0)	1	UBP15_HUMAN	USP15	HGNC	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	F8VZG8_HUMAN,F8VVY7_HUMAN		11	1414	+			UPI00001379F8	469					SNV	USP15,missense_variant,p.Pro469Ala,ENST00000280377,NM_001252078.1;USP15,missense_variant,p.Pro440Ala,ENST00000353364,NM_006313.2;USP15,missense_variant,p.Pro444Ala,ENST00000393654,;USP15,downstream_gene_variant,,ENST00000547317,;USP15,non_coding_transcript_exon_variant,,ENST00000549268,;	uc001src.1	c.1405C>G	1463/4748	3	3			c.1405C>G						12	SNP	c.(1405-1407)CCC>GCC	16	16			ovary(2)|lung(1)	3	Broad	ubiquitin specific peptidase 15			62778015		0.338	ENSG00000135655	16793	g.chr12:62778015C>G	protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	Melanoma(181;615 2041 39364 49691 50001)			Melanoma(181;615 2041 39364 49691 50001)			248.434192	KEEP	40	35	-1	32	39	40	35	-1	248.440952	32	39	0.507576	1	0	0	0	0	1	0	0	0	--	--		0	G			USP15_uc001srb.1_Missense_Mutation_p.P440A	106	GBM-06-6390-TP	p.P469A	C	ACTTCCATTGCCCATGAAAAA	NM_006313	NP_006304	62778015	Q9Y4E8	UBP15_HUMAN	0	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	11	1414	+	G	G			Missense_Mutation	469						
USP15	0	broad.mit.edu	GRCh37	12	62777954	62777954	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-14-0786-01	TCGA-14-0786-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000280377.5:c.1344T>C	p.Cys448=	p.C448=	ENST00000280377	NM_001252078.1	448	tgT/tgC	0			1			C	C	uc001src.1	protein_coding	YES	CCDS58251.1			1344/2946									ovary(2)|lung(1)	3	c.(1342-1344)TGT>TGC			PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF387,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001	ubiquitin specific peptidase 15				ENSP00000280377		22-Nov									COSM3398974,COSM3398975	22-Nov	.		ENST00000280377	Transcript			protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	ENSG00000135655	g.chr12:62777954T>C	12613			LOW								--	--	1																																		USP15_uc001srb.1_Silent_p.C419C	1,1	1			p.C448C	NM_006313	NP_006304			1,1	UBP15_HUMAN	USP15	HGNC	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	F8VZG8_HUMAN,F8VVY7_HUMAN		11	1353	+			UPI00001379F8	448					SNV	USP15,synonymous_variant,p.=,ENST00000280377,NM_001252078.1;USP15,synonymous_variant,p.=,ENST00000353364,NM_006313.2;USP15,synonymous_variant,p.=,ENST00000393654,;USP15,downstream_gene_variant,,ENST00000547317,;USP15,non_coding_transcript_exon_variant,,ENST00000549268,;	uc001src.1	c.1344T>C	1402/4748	3	3			c.1344T>C						12	SNP	c.(1342-1344)TGT>TGC	2	2			ovary(2)|lung(1)	3	Broad	ubiquitin specific peptidase 15			62777954		0.358	ENSG00000135655	16793	g.chr12:62777954T>C	protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	Melanoma(181;615 2041 39364 49691 50001)			Melanoma(181;615 2041 39364 49691 50001)			202.324712	KEEP	31	30	-1	35	48	31	30	-1	202.852422	35	48	0.432836	1	0	0	0	0	0	0	1	0	--	--		0	C			USP15_uc001srb.1_Silent_p.C419C	134	GBM-14-0786-TP	p.C448C	T	CTTTAGTTTGTCCTGAGTGTG	NM_006313	NP_006304	62777954	Q9Y4E8	UBP15_HUMAN	0	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	11	1353	+	C	C			Silent	448						
USP16	0	broad.mit.edu	GRCh37	21	30409731	30409731	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334352.4:c.583G>A	p.Val195Met	p.V195M	ENST00000334352	NM_001032410.1	195	Gtg/Atg	0	A:0		1			A	V/M	uc002ymy.2	protein_coding	YES	CCDS13583.1			583/2472									ovary(2)|breast(1)|pancreas(1)	4	c.(583-585)GTG>ATG			hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF420	ubiquitin specific protease 16 isoform a			A:0.0001	ENSP00000334808		19-Jul	0.000156		8.65E-05			0.00027			rs199586396,COSM3405334	19-Jul	.		ENST00000334352	Transcript			cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	ENSG00000156256	g.chr21:30409731G>A	12614			MODERATE		2.01	medium	getma.org/?cm=msa&ty=f&p=UBP16_HUMAN&rb=193&re=819&var=V195M	getma.org/pdb.php?prot=UBP16_HUMAN&from=193&to=819&var=V195M	getma.org/?cm=var&var=hg19,21,30409731,G,A&fts=all	V195M	--	--	1																																		USP16_uc002ymx.2_Missense_Mutation_p.V194M|USP16_uc002ymw.2_Missense_Mutation_p.V195M|USP16_uc011acm.1_Missense_Mutation_p.V180M|USP16_uc011acn.1_Intron|USP16_uc011aco.1_5'Flank	0,1	1		possibly_damaging(0.647)	p.V195M	NM_006447	NP_006438		deleterious(0.01)	0,1	UBP16_HUMAN	USP16	HGNC	Q9Y5T5	UBP16_HUMAN			H9KVB6_HUMAN		6	785	+			UPI00001379FA	195					SNV	USP16,missense_variant,p.Val195Met,ENST00000334352,NM_001032410.1;USP16,missense_variant,p.Val195Met,ENST00000399976,NM_006447.2;USP16,missense_variant,p.Val194Met,ENST00000399975,NM_001001992.1;USP16,intron_variant,,ENST00000535828,;USP16,downstream_gene_variant,,ENST00000399973,;USP16,non_coding_transcript_exon_variant,,ENST00000474835,;	uc002ymy.2	c.583G>A	814/3004	2	2			c.583G>A						21	SNP	c.(583-585)GTG>ATG	42	42			ovary(2)|breast(1)|pancreas(1)	4	Broad	ubiquitin specific protease 16 isoform a			30409731		0.348	ENSG00000156256	16794	g.chr21:30409731G>A	cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	Melanoma(92;625 1444 27493 34101 44971)			Melanoma(92;625 1444 27493 34101 44971)			156.680732	KEEP	30	35	-1	36	41	30	35	-1	156.827026	36	41	0.46281	1	0	0	0	0	1	0	0	0	--	--		0	A			USP16_uc002ymx.2_Missense_Mutation_p.V194M|USP16_uc002ymw.2_Missense_Mutation_p.V195M|USP16_uc011acm.1_Missense_Mutation_p.V180M|USP16_uc011acn.1_Intron|USP16_uc011aco.1_5'Flank	131	GBM-12-5301-TP	p.V195M	G	CCAAATAACCGTGAAAGGACT	NM_006447	NP_006438	30409731	Q9Y5T5	UBP16_HUMAN	0			6	785	+	A	A			Missense_Mutation	195						
USP2	9099	broad.mit.edu	GRCh37	11	119229846	119229846	+	splice_acceptor_variant	Splice_Site	DEL	T	T	-			TCGA-06-5414-01	TCGA-06-5414-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000260187.2:c.1062-2del		p.X354_splice	ENST00000260187	NM_004205.4	354		0			1			-		uc001pwm.3	protein_coding	YES	CCDS8422.1			1062/1818									ovary(2)|urinary_tract(1)|skin(1)	4	c.e6-1				ubiquitin specific peptidase 2 isoform a				ENSP00000260187													.		ENST00000260187	Transcript			cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	ENSG00000036672	g.chr11:119229846delT	12618			HIGH	12-May							--	--	1																																		USP2_uc001pwl.3_Splice_Site_p.N145_splice|USP2_uc001pwn.3_Splice_Site_p.N111_splice		1			p.N354_splice	NM_004205	NP_004196				UBP2_HUMAN	USP2	HGNC	O75604	UBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)	E9PSH6_HUMAN,E9PJ34_HUMAN,B7Z7C2_HUMAN		6	1357	-		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)	UPI00001379D8						deletion	USP2,splice_acceptor_variant,,ENST00000260187,NM_004205.4;USP2,splice_acceptor_variant,,ENST00000455332,NM_001243759.1;USP2,splice_acceptor_variant,,ENST00000525735,NM_171997.2;USP2,splice_acceptor_variant,,ENST00000532613,;USP2,non_coding_transcript_exon_variant,,ENST00000525189,;	uc001pwm.3	c.1062_splice	-/3732	5	5			c.1062_splice						11	DEL	c.e6-1	42	42			ovary(2)|urinary_tract(1)|skin(1)	4	Broad	ubiquitin specific peptidase 2 isoform a			119229846		0.527	ENSG00000036672	16798	g.chr11:119229846delT	cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity																				0.34	1	1	0	1	0	0	0	0	1	--	--		0	-			USP2_uc001pwl.3_Splice_Site_p.N145_splice|USP2_uc001pwn.3_Splice_Site_p.N111_splice	97	GBM-06-5414-TP	p.N354_splice	T	TCCTGCTGACTGAACCCAAAG	NM_004205	NP_004196	119229846	O75604	UBP2_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)	6	1357	-	-	-		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)	Splice_Site							
USP20	0	broad.mit.edu	GRCh37	9	132625554	132625555	+	frameshift_variant	Frame_Shift_Del	DEL	TC	TC	-			TCGA-14-0817-01	TCGA-14-0817-01	TC	TC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315480.4:c.590_591delCT	p.Ser197Ter	p.S197*	ENST00000315480		196	gTC/g	0			1			-	V/X	uc004bys.2	protein_coding	YES	CCDS43892.1			587-588/2745									lung(1)|breast(1)	2	c.(586-588)GTCfs			PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF402,Pfam_domain:PF00443,Superfamily_domains:SSF54001	ubiquitin specific protease 20				ENSP00000313811		25-Sep										25-Sep	.		ENST00000315480	Transcript			endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	ENSG00000136878	g.chr9:132625554_132625555delTC	12619	3		HIGH								--	--	1																																		USP20_uc004byr.2_Frame_Shift_Del_p.V196fs|USP20_uc004byt.1_Frame_Shift_Del_p.V196fs		1			p.V196fs	NM_001110303	NP_001103773				UBP20_HUMAN	USP20	HGNC	Q9Y2K6	UBP20_HUMAN			Q9UQN9_HUMAN		9	798_799	+		Ovarian(14;0.00556)	UPI000013D050	196					deletion	USP20,frameshift_variant,p.Ser197Ter,ENST00000315480,;USP20,frameshift_variant,p.Ser197Ter,ENST00000358355,NM_001008563.4;USP20,frameshift_variant,p.Ser197Ter,ENST00000372429,NM_006676.7,NM_001110303.3;USP20,downstream_gene_variant,,ENST00000494971,;	uc004bys.2	c.587_588delTC	745-746/4458	5	5			c.587_588delTC						9	DEL	c.(586-588)GTCfs	63	63			lung(1)|breast(1)	2	Broad	ubiquitin specific protease 20			132625555		0.569	ENSG00000136878	16799	g.chr9:132625554_132625555delTC	endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding																				0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			USP20_uc004byr.2_Frame_Shift_Del_p.V196fs|USP20_uc004byt.1_Frame_Shift_Del_p.V196fs	139	GBM-14-0817-TP	p.V196fs	TC	CAGAAGCTGGTCTCTGAGGTCT	NM_001110303	NP_001103773	132625554	Q9Y2K6	UBP20_HUMAN	0			9	798_799	+	-	-		Ovarian(14;0.00556)	Frame_Shift_Del	196						
USP22	0	broad.mit.edu	GRCh37	17	20924447	20924447	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-32-1977-01	TCGA-32-1977-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261497.4:c.397C>A	p.Arg133=	p.R133=	ENST00000261497	NM_015276.1	133	Cga/Aga	0			1			T	R	uc002gym.3	protein_coding	YES	CCDS42285.1			397/1578									lung(1)	1	c.(397-399)CGA>AGA			Gene3D:3.30.40.10,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF347	ubiquitin thiolesterase 22				ENSP00000261497		13-Mar									COSM3402663	13-Mar	.		ENST00000261497	Transcript			cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	ENSG00000124422	g.chr17:20924447G>T	12621			LOW								--	--	1																																		USP22_uc002gyn.3_Silent_p.R121R|USP22_uc002gyl.3_Silent_p.R28R	1	1			p.R133R	NM_015276	NP_056091			1	UBP22_HUMAN	USP22	HGNC	Q9UPT9	UBP22_HUMAN			Q9NSJ7_HUMAN,K7ESK0_HUMAN,K7ERX6_HUMAN		3	601	-			UPI00001C1FC6	133					SNV	USP22,synonymous_variant,p.=,ENST00000261497,NM_015276.1;USP22,synonymous_variant,p.=,ENST00000537526,;USP22,synonymous_variant,p.=,ENST00000476111,;USP22,synonymous_variant,p.=,ENST00000584538,;USP22,upstream_gene_variant,,ENST00000582335,;USP22,intron_variant,,ENST00000455117,;USP22,upstream_gene_variant,,ENST00000577610,;USP22,3_prime_UTR_variant,,ENST00000579645,;USP22,non_coding_transcript_exon_variant,,ENST00000578446,;	uc002gym.3	c.397C>A	601/5216	2	2			c.397C>A						17	SNP	c.(397-399)CGA>AGA	43	43			lung(1)	1	Broad	ubiquitin thiolesterase 22			20924447		0.478	ENSG00000124422	16801	g.chr17:20924447G>T	cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding							-16.449913	KEEP	0	4	-1	62	54	0	4	-1	6.356946	62	54	0.031579	1	0	0	0	0	0	0	1	0	--	--		0	T			USP22_uc002gyn.3_Silent_p.R121R|USP22_uc002gyl.3_Silent_p.R28R	229	GBM-32-1977-TP	p.R133R	G	CAAGCTTTTCGCTGCTCCTCC	NM_015276	NP_056091	20924447	Q9UPT9	UBP22_HUMAN	0			3	601	-	T	T			Silent	133						
USP22	0	broad.mit.edu	GRCh37	17	20931977	20931977	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01	TCGA-41-2572-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261497.4:c.182G>A	p.Cys61Tyr	p.C61Y	ENST00000261497	NM_015276.1	61	tGt/tAt	0			1			T	C/Y	uc002gym.3	protein_coding	YES	CCDS42285.1			182/1578									lung(1)	1	c.(181-183)TGT>TAT			Gene3D:3.30.40.10,PROSITE_profiles:PS50271,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF347,Superfamily_domains:SSF57850	ubiquitin thiolesterase 22				ENSP00000261497		13-Feb									COSM1159213	13-Feb	.		ENST00000261497	Transcript			cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	ENSG00000124422	g.chr17:20931977C>T	12621			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=UBP22_HUMAN&rb=1&re=62&var=C61Y	NA	getma.org/?cm=var&var=hg19,17,20931977,C,T&fts=all	C61Y	--	--	1																																		USP22_uc002gyn.3_Missense_Mutation_p.C49Y|USP22_uc002gyl.3_5'UTR	1	1		possibly_damaging(0.474)	p.C61Y	NM_015276	NP_056091		deleterious(0.01)	1	UBP22_HUMAN	USP22	HGNC	Q9UPT9	UBP22_HUMAN			Q9NSJ7_HUMAN,K7ESK0_HUMAN,K7ERX6_HUMAN		2	386	-			UPI00001C1FC6	61			UBP-type.		SNV	USP22,missense_variant,p.Cys61Tyr,ENST00000261497,NM_015276.1;USP22,missense_variant,p.Cys49Tyr,ENST00000537526,;USP22,5_prime_UTR_variant,,ENST00000476111,;USP22,5_prime_UTR_variant,,ENST00000584538,;USP22,non_coding_transcript_exon_variant,,ENST00000455117,;USP22,missense_variant,p.Val151Ile,ENST00000579645,;	uc002gym.3	c.182G>A	386/5216	2	2			c.182G>A						17	SNP	c.(181-183)TGT>TAT	30	30			lung(1)	1	Broad	ubiquitin thiolesterase 22			20931977		0.517	ENSG00000124422	16801	g.chr17:20931977C>T	cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding							53.986521	KEEP	8	12	-1	12	19	8	12	-1	54.215017	12	19	0.425532	1	0	0	0	0	1	0	0	0	--	--		0	T			USP22_uc002gyn.3_Missense_Mutation_p.C49Y|USP22_uc002gyl.3_5'UTR	251	GBM-41-2572-TP	p.C61Y	C	ATGGCAGATACAGGACTTGGC	NM_015276	NP_056091	20931977	Q9UPT9	UBP22_HUMAN	0			2	386	-	T	T			Missense_Mutation	61			UBP-type.			
USP26	0	broad.mit.edu	GRCh37	X	132160788	132160788	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-27-1838-01	TCGA-27-1838-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370832.1:c.1461delT	p.Phe487LeufsTer40	p.F487Lfs*40	ENST00000370832	NM_031907.1	487	ttT/tt	0			1			-	F/X	uc010nrm.1	protein_coding		CCDS14635.1			1461/2742								p.G488fs*6(2)|p.F487fs*7(1)	lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	c.(1459-1461)TTTfs			PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF379,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001	ubiquitin-specific protease 26				ENSP00000359869		1-Jan	0.000173					4.18E-05			rs761320003,COSM1465695	1-Jan	.		ENST00000370832	Transcript			protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	ENSG00000134588	g.chrX:132160788delA	13485			HIGH								--	--	1																																		USP26_uc011mvf.1_Frame_Shift_Del_p.F487fs	0,1				p.F487fs	NM_031907	NP_114113			0,1	UBP26_HUMAN	USP26	HGNC	Q9BXU7	UBP26_HUMAN					6	1931	-	Acute lymphoblastic leukemia(192;0.000127)		UPI00000421FD	487					deletion	USP26,frameshift_variant,p.Phe487LeufsTer40,ENST00000511190,NM_031907.1;USP26,frameshift_variant,p.Phe487LeufsTer40,ENST00000370832,NM_031907.1;USP26,frameshift_variant,p.Phe487LeufsTer40,ENST00000406273,NM_031907.1;	uc010nrm.1	c.1461delT	1513/3642	5	5			c.1461delT						23	DEL	c.(1459-1461)TTTfs	30	30		p.G488fs*6(2)|p.F487fs*7(1)	lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Broad	ubiquitin-specific protease 26			132160788		0.383	ENSG00000134588	16804	g.chrX:132160788delA	protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	NSCLC(104;342 1621 36940 47097 52632)			NSCLC(104;342 1621 36940 47097 52632)																0.01	1	1	0	1	0	0	0	0	0	--	--		0	-			USP26_uc011mvf.1_Frame_Shift_Del_p.F487fs	197	GBM-27-1838-TP	p.F487fs	A	CTTCTGCTCCAAAAAAAAGAT	NM_031907	NP_114113	132160788	Q9BXU7	UBP26_HUMAN	0			6	1931	-	-	-	Acute lymphoblastic leukemia(192;0.000127)		Frame_Shift_Del	487						
USP26	0	broad.mit.edu	GRCh37	X	132161937	132161937	+	synonymous_variant	Silent	SNP	G	G	A	rs142413133	byFrequency	TCGA-41-3393-01	TCGA-41-3393-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370832.1:c.312C>T	p.Asn104=	p.N104=	ENST00000370832	NM_031907.1	104	aaC/aaT	0	A:0.0021	A:0.0045	1	A:0		A	N	uc010nrm.1	protein_coding		CCDS14635.1			312/2742									lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	c.(310-312)AAC>AAT			hmmpanther:PTHR24006:SF379,hmmpanther:PTHR24006	ubiquitin-specific protease 26		A:0	A:0	ENSP00000359869	A:0	1-Jan	0.00033	0.00283	0.000436	0.000756				0.000104	rs142413133,COSM3405977	1-Jan	common_variant		ENST00000370832	Transcript		A:0.0016	protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	ENSG00000134588	g.chrX:132161937G>A	13485			LOW								--	--	1																																		USP26_uc011mvf.1_Silent_p.N104N	0,1				p.N104N	NM_031907	NP_114113	A:0		0,1	UBP26_HUMAN	USP26	HGNC	Q9BXU7	UBP26_HUMAN					6	782	-	Acute lymphoblastic leukemia(192;0.000127)		UPI00000421FD	104					SNV	USP26,synonymous_variant,p.=,ENST00000511190,NM_031907.1;USP26,synonymous_variant,p.=,ENST00000370832,NM_031907.1;USP26,synonymous_variant,p.=,ENST00000406273,NM_031907.1;	uc010nrm.1	c.312C>T	364/3642	1	1			c.312C>T						23	SNP	c.(310-312)AAC>AAT	53	53			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Broad	ubiquitin-specific protease 26			132161937		0.383	ENSG00000134588	16804	g.chrX:132161937G>A	protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	NSCLC(104;342 1621 36940 47097 52632)			NSCLC(104;342 1621 36940 47097 52632)			124.992829	KEEP	22	34	-1	82	103	22	34	-1	137.168672	82	103	0.247619	1	0	0	0	0	0	0	1	0	--	--		0	A			USP26_uc011mvf.1_Silent_p.N104N	255	GBM-41-3393-TP	p.N104N	G	GCTGAACCTCGTTTTGATGAA	NM_031907	NP_114113	132161937	Q9BXU7	UBP26_HUMAN	0			6	782	-	A	A	Acute lymphoblastic leukemia(192;0.000127)		Silent	104						
USP26	83844		GRCh37	X	132161219	132161219	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000511190.1:c.1030C>T	p.Arg344Trp	p.R344W	ENST00000511190	NM_031907.1	344	Cgg/Tgg	0																																																																																																																																																																																																																																												
USP28	57646	broad.mit.edu	GRCh37	11	113677209	113677209	+	splice_donor_variant	Splice_Site	SNP	A	A	G			TCGA-06-0209-01	TCGA-06-0209-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000003302.4:c.2400+2T>C		p.X800_splice	ENST00000003302	NM_020886.2	800		0			1			G		uc001poh.2	protein_coding	YES	CCDS31680.1			2400/3234									lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7	c.e19+1				ubiquitin specific protease 28				ENSP00000003302											COSM3397419		.		ENST00000003302	Transcript			cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	ENSG00000048028	g.chr11:113677209A>G	12625			HIGH	19/24							--	--	1																																		USP28_uc001pog.2_Intron|USP28_uc010rwy.1_Intron|USP28_uc001poi.2_Intron	1	1			p.K800_splice	NM_020886	NP_065937			1	UBP28_HUMAN	USP28	HGNC	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	Q96SV4_HUMAN		19	2433	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	UPI0000137A00						SNV	USP28,splice_donor_variant,,ENST00000003302,NM_020886.2;USP28,splice_donor_variant,,ENST00000538224,;USP28,intron_variant,,ENST00000260188,;USP28,intron_variant,,ENST00000544967,;USP28,intron_variant,,ENST00000545540,;USP28,intron_variant,,ENST00000540438,;USP28,upstream_gene_variant,,ENST00000544272,;	uc001poh.2	c.2400_splice	-/4669	5	3			c.2400_splice						11	SNP	c.e19+1	13	13			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7	Broad	ubiquitin specific protease 28			113677209		0.398	ENSG00000048028	16805	g.chr11:113677209A>G	cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)			Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)			2.061269	KEEP	2	3	-1	31	25	2	3	-1	11.585401	31	25	0.076923	1	0	0	0	0	0	0	0	1	--	--		0	G			USP28_uc001pog.2_Intron|USP28_uc010rwy.1_Intron|USP28_uc001poi.2_Intron	46	GBM-06-0209-TP	p.K800_splice	A	AAACAGAGATACCTTAATCAG	NM_020886	NP_065937	113677209	Q96RU2	UBP28_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	19	2433	-	G	G		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	Splice_Site							
USP28	0	broad.mit.edu	GRCh37	11	113688486	113688486	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-27-1832-01	TCGA-27-1832-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000003302.4:c.1357A>G	p.Ser453Gly	p.S453G	ENST00000003302	NM_020886.2	453	Agt/Ggt	0			1			C	S/G	uc001poh.2	protein_coding	YES	CCDS31680.1			1357/3234									lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7	c.(1357-1359)AGT>GGT			PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF110,hmmpanther:PTHR24006,Pfam_domain:PF00443	ubiquitin specific protease 28				ENSP00000003302		13/25									COSM3397420	13/25	.		ENST00000003302	Transcript			cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	ENSG00000048028	g.chr11:113688486T>C	12625			MODERATE		2.325	medium	getma.org/?cm=msa&ty=f&p=UBP28_HUMAN&rb=159&re=647&var=S453G	NA	getma.org/?cm=var&var=hg19,11,113688486,T,C&fts=all	S453G	--	--	1																																		USP28_uc001pog.2_Missense_Mutation_p.S161G|USP28_uc010rwy.1_Missense_Mutation_p.S328G|USP28_uc001poi.2_Intron|USP28_uc001poj.3_Missense_Mutation_p.S453G	1	1		possibly_damaging(0.507)	p.S453G	NM_020886	NP_065937		deleterious(0.01)	1	UBP28_HUMAN	USP28	HGNC	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	Q96SV4_HUMAN		13	1390	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	UPI0000137A00	453					SNV	USP28,missense_variant,p.Ser453Gly,ENST00000003302,NM_020886.2;USP28,missense_variant,p.Ser453Gly,ENST00000260188,;USP28,missense_variant,p.Ser161Gly,ENST00000544967,;USP28,missense_variant,p.Ser328Gly,ENST00000545540,;USP28,missense_variant,p.Ser453Gly,ENST00000537706,;USP28,intron_variant,,ENST00000538475,;RP11-667M19.10,upstream_gene_variant,,ENST00000399123,;USP28,3_prime_UTR_variant,,ENST00000535607,;USP28,intron_variant,,ENST00000540438,;USP28,intron_variant,,ENST00000545608,;USP28,downstream_gene_variant,,ENST00000537490,;RP11-667M19.9,downstream_gene_variant,,ENST00000536944,;	uc001poh.2	c.1357A>G	1426/4669	3	3			c.1357A>G						11	SNP	c.(1357-1359)AGT>GGT	51	51			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7	Broad	ubiquitin specific protease 28			113688486		0.463	ENSG00000048028	16805	g.chr11:113688486T>C	cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)			Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)			203.539577	KEEP	38	28	-1	66	65	38	28	-1	207.772304	66	65	0.340426	1	0	0	0	0	1	0	0	0	--	--		0	C			USP28_uc001pog.2_Missense_Mutation_p.S161G|USP28_uc010rwy.1_Missense_Mutation_p.S328G|USP28_uc001poi.2_Intron|USP28_uc001poj.3_Missense_Mutation_p.S453G	191	GBM-27-1832-TP	p.S453G	T	GGTTTTGTACTAGCAAATTCA	NM_020886	NP_065937	113688486	Q96RU2	UBP28_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	13	1390	-	C	C		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	Missense_Mutation	453						
USP28	0	broad.mit.edu	GRCh37	11	113672259	113672259	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01	TCGA-28-2509-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000003302.4:c.3004G>A	p.Ala1002Thr	p.A1002T	ENST00000003302	NM_020886.2	1002	Gcc/Acc	0			1			T	A/T	uc001poh.2	protein_coding	YES	CCDS31680.1			3004/3234									lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7	c.(3004-3006)GCC>ACC			hmmpanther:PTHR24006:SF110,hmmpanther:PTHR24006	ubiquitin specific protease 28				ENSP00000003302		24/25									COSM2103496	24/25	.		ENST00000003302	Transcript			cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	ENSG00000048028	g.chr11:113672259C>T	12625			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=UBP28_HUMAN&rb=901&re=1075&var=A1002T	NA	getma.org/?cm=var&var=hg19,11,113672259,C,T&fts=all	A1002T	--	--	1																																		USP28_uc001pog.2_Missense_Mutation_p.A678T|USP28_uc010rwy.1_Missense_Mutation_p.A845T|USP28_uc001poi.2_Missense_Mutation_p.A325T	1	1		probably_damaging(0.977)	p.A1002T	NM_020886	NP_065937		tolerated(0.06)	1	UBP28_HUMAN	USP28	HGNC	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	Q96SV4_HUMAN		24	3037	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	UPI0000137A00	1002					SNV	USP28,missense_variant,p.Ala1002Thr,ENST00000003302,NM_020886.2;USP28,missense_variant,p.Ala970Thr,ENST00000260188,;USP28,missense_variant,p.Ala678Thr,ENST00000544967,;USP28,missense_variant,p.Ala845Thr,ENST00000545540,;USP28,downstream_gene_variant,,ENST00000538224,;USP28,3_prime_UTR_variant,,ENST00000540438,;USP28,non_coding_transcript_exon_variant,,ENST00000544272,;	uc001poh.2	c.3004G>A	3073/4669	2	2			c.3004G>A						11	SNP	c.(3004-3006)GCC>ACC	26	26			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7	Broad	ubiquitin specific protease 28			113672259		0.393	ENSG00000048028	16805	g.chr11:113672259C>T	cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)			Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)			96.334625	KEEP	18	23	-1	36	53	18	23	-1	100.402618	36	53	0.305785	1	0	0	0	0	1	0	0	0	--	--		0	T			USP28_uc001pog.2_Missense_Mutation_p.A678T|USP28_uc010rwy.1_Missense_Mutation_p.A845T|USP28_uc001poi.2_Missense_Mutation_p.A325T	211	GBM-28-2509-TP	p.A1002T	C	ACCTCAATGGCATCCAGATCA	NM_020886	NP_065937	113672259	Q96RU2	UBP28_HUMAN	0		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	24	3037	-	T	T		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	Missense_Mutation	1002						
USP29	0	broad.mit.edu	GRCh37	19	57641754	57641754	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-14-0813-01	TCGA-14-0813-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254181.4:c.1711T>A	p.Ser571Thr	p.S571T	ENST00000254181	NM_020903.2	571	Tct/Act	0			1			A	S/T	uc002qny.2	protein_coding	YES	CCDS33124.1			1711/2769									lung(6)|ovary(2)|breast(2)|pancreas(1)	11	c.(1711-1713)TCT>ACT			PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF390,hmmpanther:PTHR24006,Pfam_domain:PF00443	ubiquitin specific peptidase 29				ENSP00000254181		4-Apr									COSM2154755	4-Apr	.		ENST00000254181	Transcript			protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	ENSG00000131864	g.chr19:57641754T>A	18563			MODERATE		1.83	low	getma.org/?cm=msa&ty=f&p=UBP29_HUMAN&rb=282&re=882&var=S571T	NA	getma.org/?cm=var&var=hg19,19,57641754,T,A&fts=all	S571T	--	--	1																																			1	1		probably_damaging(0.998)	p.S571T	NM_020903	NP_065954		tolerated(0.06)	1	UBP29_HUMAN	USP29	HGNC	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	M0QZL0_HUMAN,A1L447_HUMAN		4	2067	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	UPI0000137A01	571					SNV	USP29,missense_variant,p.Ser571Thr,ENST00000254181,NM_020903.2;USP29,missense_variant,p.Ser571Thr,ENST00000598197,;ZIM3,downstream_gene_variant,,ENST00000269834,NM_052882.1;USP29,downstream_gene_variant,,ENST00000600940,;USP29,downstream_gene_variant,,ENST00000600020,;U3,downstream_gene_variant,,ENST00000516874,;	uc002qny.2	c.1711T>A	2165/3705	2	2			c.1711T>A						19	SNP	c.(1711-1713)TCT>ACT	32	32			lung(6)|ovary(2)|breast(2)|pancreas(1)	11	Broad	ubiquitin specific peptidase 29			57641754		0.468	ENSG00000131864	16806	g.chr19:57641754T>A	protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity							134.924799	KEEP	28	30	-1	80	80	28	30	-1	145.532051	80	80	0.263158	1	0	0	0	0	1	0	0	0	--	--		0	A				138	GBM-14-0813-TP	p.S571T	T	GGAGATGATTTCTGAGATCAA	NM_020903	NP_065954	57641754	Q9HBJ7	UBP29_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	2067	+	A	A		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	Missense_Mutation	571						
USP29	0	broad.mit.edu	GRCh37	19	57641232	57641232	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-2629-01	TCGA-19-2629-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254181.4:c.1189A>G	p.Thr397Ala	p.T397A	ENST00000254181	NM_020903.2	397	Act/Gct	0			1			G	T/A	uc002qny.2	protein_coding	YES	CCDS33124.1			1189/2769									lung(6)|ovary(2)|breast(2)|pancreas(1)	11	c.(1189-1191)ACT>GCT			Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF390,hmmpanther:PTHR24006,Pfam_domain:PF00443	ubiquitin specific peptidase 29				ENSP00000254181		4-Apr									COSM3404699	4-Apr	.		ENST00000254181	Transcript			protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	ENSG00000131864	g.chr19:57641232A>G	18563			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=UBP29_HUMAN&rb=282&re=882&var=T397A	getma.org/pdb.php?prot=UBP29_HUMAN&from=282&to=882&var=T397A	getma.org/?cm=var&var=hg19,19,57641232,A,G&fts=all	T397A	--	--	1																																			1	1		benign(0.334)	p.T397A	NM_020903	NP_065954		tolerated(0.09)	1	UBP29_HUMAN	USP29	HGNC	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	M0QZL0_HUMAN,A1L447_HUMAN		4	1545	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	UPI0000137A01	397					SNV	USP29,missense_variant,p.Thr397Ala,ENST00000254181,NM_020903.2;USP29,missense_variant,p.Thr397Ala,ENST00000598197,;ZIM3,downstream_gene_variant,,ENST00000269834,NM_052882.1;USP29,downstream_gene_variant,,ENST00000600940,;USP29,downstream_gene_variant,,ENST00000600020,;U3,downstream_gene_variant,,ENST00000516874,;	uc002qny.2	c.1189A>G	1643/3705	3	3			c.1189A>G						19	SNP	c.(1189-1191)ACT>GCT	63	63			lung(6)|ovary(2)|breast(2)|pancreas(1)	11	Broad	ubiquitin specific peptidase 29			57641232		0.383	ENSG00000131864	16806	g.chr19:57641232A>G	protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity							43.912708	KEEP	9	8	-1	48	42	9	8	-1	55.320938	48	42	0.161905	1	0	0	0	0	1	0	0	0	--	--		0	G				166	GBM-19-2629-TP	p.T397A	A	CACTTTGAATACTGGGAAAGA	NM_020903	NP_065954	57641232	Q9HBJ7	UBP29_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1545	+	G	G		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	Missense_Mutation	397						
USP30	84749		GRCh37	12	109509449	109509449	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000257548.5:c.513G>A	p.Ser171=	p.S171=	ENST00000257548	NM_032663.3	171	tcG/tcA	0																																																																																																																																																																																																																																												
USP32	0	broad.mit.edu	GRCh37	17	58258719	58258719	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs17405739	by1000genomes	TCGA-27-2524-01	TCGA-27-2524-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300896.4:c.4514G>A	p.Arg1505His	p.R1505H	ENST00000300896	NM_032582.3	1505	cGt/cAt	0		T:0.0008	1	T:0		T	R/H	uc002iyo.1	protein_coding	YES	CCDS32697.1			4514/4815									lung(2)|breast(2)|large_intestine(1)	5	c.(4513-4515)CGT>CAT			Pfam_domain:PF00443,hmmpanther:PTHR24006:SF392,hmmpanther:PTHR24006,PROSITE_profiles:PS50235	ubiquitin specific protease 32		T:0		ENSP00000300896	T:0	32/34	8.24E-06					1.50E-05			rs17405739,COSM3403074	32/34	.		ENST00000300896	Transcript		T:0.0002	protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	ENSG00000170832	g.chr17:58258719C>T	19143			MODERATE		0	NA	NA	NA	getma.org/?cm=var&var=hg19,17,58258719,C,T&fts=all	H151H	--	--	1																																		USP32_uc002iyn.1_Missense_Mutation_p.R1175H	0,1	1		benign(0)	p.R1505H	NM_032582	NP_115971	T:0	tolerated_low_confidence(0.22)	0,1	UBP32_HUMAN	USP32	HGNC	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		Q86WP5_HUMAN,Q6IRT0_HUMAN,Q4VC15_HUMAN,K7EQL6_HUMAN		32	4800	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		UPI0000047AF8	1505					SNV	USP32,missense_variant,p.Arg1505His,ENST00000300896,NM_032582.3;USP32,missense_variant,p.Arg1175His,ENST00000592339,;USP32,missense_variant,p.Arg106His,ENST00000593071,;USP32,downstream_gene_variant,,ENST00000586238,;	uc002iyo.1	c.4514G>A	4709/5171	1	1			c.4514G>A						17	SNP	c.(4513-4515)CGT>CAT	1	1			lung(2)|breast(2)|large_intestine(1)	5	Broad	ubiquitin specific protease 32			58258719		0.383	ENSG00000170832	16810	g.chr17:58258719C>T	protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity							196.687841	KEEP	47	38	-1	89	79	47	38	-1	203.629675	89	79	0.312217	1	0	0	0	0	1	0	0	0	--	--		0	T			USP32_uc002iyn.1_Missense_Mutation_p.R1175H	202	GBM-27-2524-TP	p.R1505H	C	AGGCTTAATACGAGTATCTTC	NM_032582	NP_115971	58258719	Q8NFA0	UBP32_HUMAN	0	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		32	4800	-	T	T	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Missense_Mutation	1505						
USP34	9736	broad.mit.edu	GRCh37	2	61515873	61515873	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0221-01	TCGA-06-0221-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398571.2:c.4688G>A	p.Gly1563Asp	p.G1563D	ENST00000398571	NM_014709.3	1563	gGc/gAc	0			1			T	G/D	uc002sbe.2	protein_coding	YES	CCDS42686.1			4688/10641									ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19	c.(4687-4689)GGC>GAC			hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF97	ubiquitin specific protease 34				ENSP00000381577		34/80									COSM3407925	34/80	.		ENST00000398571	Transcript			positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	ENSG00000115464	g.chr2:61515873C>T	20066			MODERATE		0.755	neutral	getma.org/?cm=msa&ty=f&p=UBP34_HUMAN&rb=1401&re=1600&var=G1563D	NA	getma.org/?cm=var&var=hg19,2,61515873,C,T&fts=all	G1563D	--	--	1																																			1	1		benign(0.008)	p.G1563D	NM_014709	NP_055524		tolerated(0.09)	1	UBP34_HUMAN	USP34	HGNC	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)				34	4710	-			UPI0000410E09	1563					SNV	USP34,missense_variant,p.Gly1563Asp,ENST00000398571,NM_014709.3;USP34,intron_variant,,ENST00000472706,;	uc002sbe.2	c.4688G>A	4765/11357	2	2			c.4688G>A						2	SNP	c.(4687-4689)GGC>GAC	36	36			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19	Broad	ubiquitin specific protease 34			61515873		0.418	ENSG00000115464	16812	g.chr2:61515873C>T	positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity							-37.666821	KEEP	3	2	-1	107	89	3	2	-1	6.740113	107	89	0.022857	1	0	0	0	0	1	0	0	0	--	--		0	T				53	GBM-06-0221-TP	p.G1563D	C	CCTTGATTTGCCAGGCCAGGT	NM_014709	NP_055524	61515873	Q70CQ2	UBP34_HUMAN	0	Epithelial(17;0.229)		34	4710	-	T	T			Missense_Mutation	1563						
USP35	57558	broad.mit.edu	GRCh37	11	77921415	77921416	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0221-01	TCGA-06-0221-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000529308.1:c.2516dup	p.Gly840TrpfsTer7	p.G840Wfs*7	ENST00000529308	NM_020798.2	838	-/G	0			1			G	-/X	uc009yva.1	protein_coding	YES	CCDS41693.1			2514-2515/3057									lung(2)|ovary(1)	3	c.(2512-2517)GCTGGTfs			Low_complexity_(Seg):seg,PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF343,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001	ubiquitin specific protease 35				ENSP00000431876		11-Oct										11-Oct	.		ENST00000529308	Transcript			ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	ENSG00000118369	g.chr11:77921415_77921416insG	20061	2		HIGH								--	--	1																																		USP35_uc001oze.2_Frame_Shift_Ins_p.A594fs|USP35_uc001ozc.2_Frame_Shift_Ins_p.A406fs|USP35_uc010rsp.1_Frame_Shift_Ins_p.A270fs|USP35_uc001ozd.2_Frame_Shift_Ins_p.A449fs|USP35_uc001ozf.2_Frame_Shift_Ins_p.A569fs		1			p.A838fs	NM_020798	NP_065849				UBP35_HUMAN	USP35	HGNC	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		E9PRM2_HUMAN,E9PK78_HUMAN		10	2760_2761	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		UPI0000456553	838_839					insertion	USP35,frameshift_variant,p.Gly840TrpfsTer7,ENST00000529308,NM_020798.2;USP35,frameshift_variant,p.Gly571TrpfsTer7,ENST00000526425,;USP35,frameshift_variant,p.Gly426TrpfsTer7,ENST00000441408,;USP35,frameshift_variant,p.Gly408TrpfsTer7,ENST00000530267,;GAB2,downstream_gene_variant,,ENST00000361507,NM_080491.2;GAB2,downstream_gene_variant,,ENST00000340149,NM_012296.3;USP35,downstream_gene_variant,,ENST00000528910,;USP35,non_coding_transcript_exon_variant,,ENST00000530535,;USP35,3_prime_UTR_variant,,ENST00000530546,;USP35,downstream_gene_variant,,ENST00000530521,;	uc009yva.1	c.2514_2515insG	2775-2776/4216	5	5			c.2514_2515insG						11	INS	c.(2512-2517)GCTGGTfs	52	52			lung(2)|ovary(1)	3	Broad	ubiquitin specific protease 35			77921416		0.634	ENSG00000118369	16813	g.chr11:77921415_77921416insG	ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity																				0.02	1	0	0	1	1	0	0	0	0	--	--		0	G			USP35_uc001oze.2_Frame_Shift_Ins_p.A594fs|USP35_uc001ozc.2_Frame_Shift_Ins_p.A406fs|USP35_uc010rsp.1_Frame_Shift_Ins_p.A270fs|USP35_uc001ozd.2_Frame_Shift_Ins_p.A449fs|USP35_uc001ozf.2_Frame_Shift_Ins_p.A569fs	53	GBM-06-0221-TP	p.A838fs	-	TGCCACTGGCTGGTGGCCGTGG	NM_020798	NP_065849	77921415	Q9P2H5	UBP35_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		10	2760_2761	+	G	G	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		Frame_Shift_Ins	838_839						
USP35	0	broad.mit.edu	GRCh37	11	77921629	77921629	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-76-4925-01	TCGA-76-4925-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000529308.1:c.2728A>C	p.Thr910Pro	p.T910P	ENST00000529308	NM_020798.2	910	Acc/Ccc	0			1			C	T/P	uc009yva.1	protein_coding	YES	CCDS41693.1			2728/3057									lung(2)|ovary(1)	3	c.(2728-2730)ACC>CCC			Low_complexity_(Seg):seg,PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF343,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001	ubiquitin specific protease 35				ENSP00000431876		11-Oct									COSM2157519,COSM2157518	11-Oct	.		ENST00000529308	Transcript			ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	ENSG00000118369	g.chr11:77921629A>C	20061			MODERATE		1.635	low	getma.org/?cm=msa&ty=f&p=UBP35_HUMAN&rb=438&re=923&var=T910P	getma.org/pdb.php?prot=UBP35_HUMAN&from=438&to=923&var=T910P	getma.org/?cm=var&var=hg19,11,77921629,A,C&fts=all	T910P	--	--	1																																		USP35_uc001oze.2_Missense_Mutation_p.T666P|USP35_uc001ozc.2_Missense_Mutation_p.T478P|USP35_uc010rsp.1_Missense_Mutation_p.T342P|USP35_uc001ozd.2_Missense_Mutation_p.T521P|USP35_uc001ozf.2_Missense_Mutation_p.T641P	1,1	1		probably_damaging(1)	p.T910P	NM_020798	NP_065849		deleterious(0)	1,1	UBP35_HUMAN	USP35	HGNC	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		E9PRM2_HUMAN,E9PK78_HUMAN		10	2974	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		UPI0000456553	910					SNV	USP35,missense_variant,p.Thr910Pro,ENST00000529308,NM_020798.2;USP35,missense_variant,p.Thr641Pro,ENST00000526425,;USP35,missense_variant,p.Thr496Pro,ENST00000441408,;USP35,missense_variant,p.Thr478Pro,ENST00000530267,;GAB2,downstream_gene_variant,,ENST00000361507,NM_080491.2;GAB2,downstream_gene_variant,,ENST00000340149,NM_012296.3;USP35,downstream_gene_variant,,ENST00000528910,;USP35,non_coding_transcript_exon_variant,,ENST00000530535,;USP35,3_prime_UTR_variant,,ENST00000530546,;USP35,downstream_gene_variant,,ENST00000530521,;	uc009yva.1	c.2728A>C	2989/4216	3	3			c.2728A>C						11	SNP	c.(2728-2730)ACC>CCC	7	7			lung(2)|ovary(1)	3	Broad	ubiquitin specific protease 35			77921629		0.572	ENSG00000118369	16813	g.chr11:77921629A>C	ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity							546.703974	KEEP	84	94	-1	92	84	84	94	-1	546.759199	92	84	0.485342	1	0	0	0	0	1	0	0	0	--	--		0	C			USP35_uc001oze.2_Missense_Mutation_p.T666P|USP35_uc001ozc.2_Missense_Mutation_p.T478P|USP35_uc010rsp.1_Missense_Mutation_p.T342P|USP35_uc001ozd.2_Missense_Mutation_p.T521P|USP35_uc001ozf.2_Missense_Mutation_p.T641P	265	GBM-76-4925-TP	p.T910P	A	CAGCAACGTCACCTCCTTCTT	NM_020798	NP_065849	77921629	Q9P2H5	UBP35_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		10	2974	+	C	C	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		Missense_Mutation	910						
USP42	0	broad.mit.edu	GRCh37	7	6183728	6183728	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1829-01	TCGA-14-1829-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306177.5:c.891G>A	p.Met297Ile	p.M297I	ENST00000306177	NM_032172.2	297	atG/atA	0			1			A	M/I	uc011jwo.1	protein_coding	YES	CCDS47535.1			891/3951									skin(2)|ovary(1)|pancreas(1)|breast(1)	5	c.(889-891)ATG>ATA			Gene3D:1nbfA02,Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF405,Superfamily_domains:SSF54001	ubiquitin specific peptidase 42				ENSP00000301962		18-Sep									COSM3412222,COSM3412221	18-Sep	.		ENST00000306177	Transcript			cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	ENSG00000106346	g.chr7:6183728G>A	20068			MODERATE		1.575	low	getma.org/?cm=msa&ty=f&p=UBP42_HUMAN&rb=108&re=409&var=M297I	getma.org/pdb.php?prot=UBP42_HUMAN&from=108&to=409&var=M297I	getma.org/?cm=var&var=hg19,7,6183728,G,A&fts=all	M297I	--	--	1																																		USP42_uc011jwn.1_Missense_Mutation_p.M142I|USP42_uc010kth.1_Missense_Mutation_p.M230I|USP42_uc011jwp.1_Missense_Mutation_p.M297I|USP42_uc011jwq.1_Missense_Mutation_p.M104I|USP42_uc011jwr.1_Missense_Mutation_p.M142I	1,1	1		probably_damaging(0.991)	p.M297I	NM_032172	NP_115548		deleterious(0)	1,1	UBP42_HUMAN	USP42	HGNC	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	E5RJP3_HUMAN,C9JPC9_HUMAN		9	1014	+		Ovarian(82;0.0423)	UPI0000416754	297					SNV	USP42,missense_variant,p.Met297Ile,ENST00000306177,NM_032172.2;USP42,missense_variant,p.Met143Ile,ENST00000426246,;USP42,missense_variant,p.Met230Ile,ENST00000465073,;USP42,3_prime_UTR_variant,,ENST00000521713,;USP42,3_prime_UTR_variant,,ENST00000404008,;USP42,non_coding_transcript_exon_variant,,ENST00000479544,;	uc011jwo.1	c.891G>A	1049/5155	2	2			c.891G>A						7	SNP	c.(889-891)ATG>ATA	30	30			skin(2)|ovary(1)|pancreas(1)|breast(1)	5	Broad	ubiquitin specific peptidase 42			6183728		0.333	ENSG00000106346	16820	g.chr7:6183728G>A	cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity							32.04673	KEEP	11	2	-1	21	22	11	2	-1	35.180162	21	22	0.245283	1	0	0	0	0	1	0	0	0	--	--		0	A			USP42_uc011jwn.1_Missense_Mutation_p.M142I|USP42_uc010kth.1_Missense_Mutation_p.M230I|USP42_uc011jwp.1_Missense_Mutation_p.M297I|USP42_uc011jwq.1_Missense_Mutation_p.M104I|USP42_uc011jwr.1_Missense_Mutation_p.M142I	149	GBM-14-1829-TP	p.M297I	G	GTAAAAAGATGGTTCCAGCTT	NM_032172	NP_115548	6183728	Q9H9J4	UBP42_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	9	1014	+	A	A		Ovarian(82;0.0423)	Missense_Mutation	297						
USP42	0	broad.mit.edu	GRCh37	7	6189342	6189342	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-6191-01	TCGA-76-6191-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306177.5:c.1515G>T	p.Trp505Cys	p.W505C	ENST00000306177	NM_032172.2	505	tgG/tgT	0			1			T	W/C	uc011jwo.1	protein_coding	YES	CCDS47535.1			1515/3951									skin(2)|ovary(1)|pancreas(1)|breast(1)	5	c.(1513-1515)TGG>TGT			hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF405	ubiquitin specific peptidase 42				ENSP00000301962		13/18										13/18	.		ENST00000306177	Transcript			cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	ENSG00000106346	g.chr7:6189342G>T	20068			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=UBP42_HUMAN&rb=410&re=609&var=W505C	NA	getma.org/?cm=var&var=hg19,7,6189342,G,T&fts=all	W505C	--	--	1																																		USP42_uc010kth.1_Missense_Mutation_p.W438C|USP42_uc011jwp.1_Missense_Mutation_p.W505C|USP42_uc011jwq.1_Missense_Mutation_p.W312C|USP42_uc011jwr.1_Missense_Mutation_p.W350C		1		probably_damaging(0.999)	p.W505C	NM_032172	NP_115548		deleterious(0)		UBP42_HUMAN	USP42	HGNC	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	E5RJP3_HUMAN,C9JPC9_HUMAN		13	1638	+		Ovarian(82;0.0423)	UPI0000416754	505					SNV	USP42,missense_variant,p.Trp505Cys,ENST00000306177,NM_032172.2;USP42,missense_variant,p.Trp351Cys,ENST00000426246,;USP42,missense_variant,p.Trp438Cys,ENST00000465073,;USP42,3_prime_UTR_variant,,ENST00000521713,;USP42,non_coding_transcript_exon_variant,,ENST00000479544,;USP42,downstream_gene_variant,,ENST00000404008,;	uc011jwo.1	c.1515G>T	1673/5155	2	2			c.1515G>T						7	SNP	c.(1513-1515)TGG>TGT	37	37			skin(2)|ovary(1)|pancreas(1)|breast(1)	5	Broad	ubiquitin specific peptidase 42			6189342		0.443	ENSG00000106346	16820	g.chr7:6189342G>T	cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity							123.807964	KEEP	20	26	0.434782609	35	65	20	26	0.434782609	127.594717	35	65	0.323529	1	0	0	0	0	1	0	0	0	--	--		0	T			USP42_uc010kth.1_Missense_Mutation_p.W438C|USP42_uc011jwp.1_Missense_Mutation_p.W505C|USP42_uc011jwq.1_Missense_Mutation_p.W312C|USP42_uc011jwr.1_Missense_Mutation_p.W350C	274	GBM-76-6191-TP	p.W505C	G	TCCAAAACTGGTCAGTTAATA	NM_032172	NP_115548	6189342	Q9H9J4	UBP42_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	13	1638	+	T	T		Ovarian(82;0.0423)	Missense_Mutation	505						
USP45	0	broad.mit.edu	GRCh37	6	99930669	99930669	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327681.6:c.805C>T	p.Pro269Ser	p.P269S	ENST00000327681	NM_001080481.1	269	Cca/Tca	0			1			A	P/S	uc003ppx.2	protein_coding	YES	CCDS34501.1			805/2445									ovary(1)|breast(1)	2	c.(805-807)CCA>TCA			Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF346,Superfamily_domains:SSF54001	ubiquitin specific peptidase 45				ENSP00000333376		18-Aug									COSM2155225	18-Aug	.		ENST00000327681	Transcript			ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	ENSG00000123552	g.chr6:99930669G>A	20080			MODERATE		0.675	neutral	getma.org/?cm=msa&ty=f&p=UBP45_HUMAN&rb=187&re=810&var=P269S	getma.org/pdb.php?prot=UBP45_HUMAN&from=187&to=810&var=P269S	getma.org/?cm=var&var=hg19,6,99930669,G,A&fts=all	P269S	--	--	1																																		USP45_uc003ppw.2_Intron|USP45_uc003ppy.2_RNA|USP45_uc010kcq.1_Missense_Mutation_p.P269S|USP45_uc003ppz.2_Missense_Mutation_p.P269S|USP45_uc003pqa.2_Missense_Mutation_p.P269S	1	1		possibly_damaging(0.562)	p.P269S	NM_001080481	NP_001073950		tolerated(0.08)	1	UBP45_HUMAN	USP45	HGNC	Q70EL2	UBP45_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0718)	F5H1L5_HUMAN,D6RE98_HUMAN		8	1338	-		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)	UPI0000253B80	269					SNV	USP45,missense_variant,p.Pro269Ser,ENST00000327681,NM_001080481.1;USP45,missense_variant,p.Pro269Ser,ENST00000500704,;USP45,missense_variant,p.Pro269Ser,ENST00000369233,;USP45,missense_variant,p.Pro269Ser,ENST00000472914,;USP45,missense_variant,p.Pro269Ser,ENST00000329966,;USP45,missense_variant,p.Pro25Ser,ENST00000511403,;USP45,intron_variant,,ENST00000392738,;USP45,missense_variant,p.Pro269Ser,ENST00000506871,;USP45,missense_variant,p.Pro113Ser,ENST00000507717,;USP45,intron_variant,,ENST00000496518,;	uc003ppx.2	c.805C>T	1338/6255	2	2			c.805C>T						6	SNP	c.(805-807)CCA>TCA	20	20			ovary(1)|breast(1)	2	Broad	ubiquitin specific peptidase 45			99930669		0.378	ENSG00000123552	16823	g.chr6:99930669G>A	ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding							142.435748	KEEP	24	30	-1	73	46	24	30	-1	147.184017	73	46	0.319018	1	0	0	0	0	1	0	0	0	--	--		0	A			USP45_uc003ppw.2_Intron|USP45_uc003ppy.2_RNA|USP45_uc010kcq.1_Missense_Mutation_p.P269S|USP45_uc003ppz.2_Missense_Mutation_p.P269S|USP45_uc003pqa.2_Missense_Mutation_p.P269S	142	GBM-14-1034-TP	p.P269S	G	GGAGAAAGTGGTCCTTTTTCA	NM_001080481	NP_001073950	99930669	Q70EL2	UBP45_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.0718)	8	1338	-	A	A		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)	Missense_Mutation	269						
USP46	0	broad.mit.edu	GRCh37	4	53468067	53468067	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-27-1835-01	TCGA-27-1835-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000441222.3:c.876G>C	p.Leu292=	p.L292=	ENST00000441222	NM_022832.3	292	ctG/ctC	0			1			G	L	uc003gzn.2	protein_coding	YES	CCDS47053.1			876/1101									ovary(1)	1	c.(874-876)CTG>CTC			Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR24619,hmmpanther:PTHR24619:SF120,Superfamily_domains:SSF54001	ubiquitin specific peptidase 46 isoform 1				ENSP00000407818		9-Jul									COSM3409352	9-Jul	.		ENST00000441222	Transcript			behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	ENSG00000109189	g.chr4:53468067C>G	20075			LOW								--	--	1																																		USP46_uc003gzm.3_Silent_p.L285L|USP46_uc011bzr.1_Silent_p.L269L|USP46_uc011bzs.1_Silent_p.L176L	1	1			p.L292L	NM_022832	NP_073743			1	UBP46_HUMAN	USP46	HGNC	P62068	UBP46_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0295)				7	1061	-			UPI0000006C18	292					SNV	USP46,synonymous_variant,p.=,ENST00000441222,NM_022832.3,NM_001286767.1;USP46,synonymous_variant,p.=,ENST00000451218,;USP46,synonymous_variant,p.=,ENST00000508499,NM_001134223.1;USP46,3_prime_UTR_variant,,ENST00000503060,;USP46,3_prime_UTR_variant,,ENST00000514536,;	uc003gzn.2	c.876G>C	1061/7954	4	4			c.876G>C						4	SNP	c.(874-876)CTG>CTC	29	29			ovary(1)	1	Broad	ubiquitin specific peptidase 46 isoform 1			53468067		0.537	ENSG00000109189	16824	g.chr4:53468067C>G	behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity							82.753133	KEEP	17	15	-1	27	25	17	15	-1	83.350158	27	25	0.402778	1	0	0	0	0	0	0	1	0	--	--		0	G			USP46_uc003gzm.3_Silent_p.L285L|USP46_uc011bzr.1_Silent_p.L269L|USP46_uc011bzs.1_Silent_p.L176L	194	GBM-27-1835-TP	p.L292L	C	ACATGCGGTCCAGGTTCACTG	NM_022832	NP_073743	53468067	P62068	UBP46_HUMAN	0	LUSC - Lung squamous cell carcinoma(32;0.0295)		7	1061	-	G	G			Silent	292						
USP47	0	broad.mit.edu	GRCh37	11	11969542	11969542	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01	TCGA-32-2495-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399455.2:c.3202C>T	p.His1068Tyr	p.H1068Y	ENST00000399455		1068	Cat/Tat	0			1			T	H/Y	uc001mjs.2	protein_coding					3202/4128									ovary(1)|skin(1)	2	c.(3142-3144)CAT>TAT				ubiquitin specific protease 47				ENSP00000382382		22/29									COSM3397475,COSM3397474	22/29	.		ENST00000399455	Transcript			base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	ENSG00000170242	g.chr11:11969542C>T	20076			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=UBP47_HUMAN&rb=1048&re=1373&var=H1068Y	NA	getma.org/?cm=var&var=hg19,11,11969542,C,T&fts=all	H1068Y	--	--	1																																		USP47_uc001mjr.2_Missense_Mutation_p.H980Y|USP47_uc009ygi.2_5'Flank	1,1			benign(0.05)	p.H1048Y	NM_017944	NP_060414		tolerated(0.37)	1,1	UBP47_HUMAN	USP47	HGNC	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)			21	3905	+			UPI0001E88E94	1068					SNV	USP47,missense_variant,p.His980Tyr,ENST00000339865,NM_017944.3;USP47,missense_variant,p.His1068Tyr,ENST00000399455,;USP47,missense_variant,p.His1048Tyr,ENST00000527733,NM_001282659.1;USP47,5_prime_UTR_variant,,ENST00000539466,;USP47,non_coding_transcript_exon_variant,,ENST00000530041,;USP47,upstream_gene_variant,,ENST00000305481,;USP47,non_coding_transcript_exon_variant,,ENST00000531513,;USP47,upstream_gene_variant,,ENST00000529813,;USP47,downstream_gene_variant,,ENST00000525078,;USP47,upstream_gene_variant,,ENST00000530369,;	uc001mjs.2	c.3142C>T	3322/7396	2	2			c.3142C>T						11	SNP	c.(3142-3144)CAT>TAT	48	48			ovary(1)|skin(1)	2	Broad	ubiquitin specific protease 47			11969542		0.398	ENSG00000170242	16825	g.chr11:11969542C>T	base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding							224.324128	KEEP	59	41	-1	110	100	59	41	-1	232.244839	110	100	0.318519	1	0	0	0	0	1	0	0	0	--	--		0	T			USP47_uc001mjr.2_Missense_Mutation_p.H980Y|USP47_uc009ygi.2_5'Flank	237	GBM-32-2495-TP	p.H1048Y	C	TTTCAAACAACATTTAGAGCC	NM_017944	NP_060414	11969542	Q96K76	UBP47_HUMAN	0		Epithelial(150;0.000339)	21	3905	+	T	T			Missense_Mutation	1068						
USP49	25862	broad.mit.edu	GRCh37	6	41774357	41774357	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-01	TCGA-06-0190-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373006.1:c.365C>T	p.Ser122Leu	p.S122L	ENST00000373006	NM_018561.3	122	tCg/tTg	0			1			A	S/L	uc003ori.2	protein_coding		CCDS69111.1			365/2067									ovary(1)|central_nervous_system(1)	2	c.(364-366)TCG>TTG			hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF422	ubiquitin thioesterase 49				ENSP00000362100		5-Jan									COSM3411104,COSM3411105	5-Jan	.		ENST00000373009	Transcript			ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	ENSG00000164663	g.chr6:41774357G>A	20078			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=UBP49_HUMAN&rb=89&re=249&var=S122L	NA	getma.org/?cm=var&var=hg19,6,41774357,G,A&fts=all	S122L	--	--	1																																			1,1			benign(0)	p.S122L	NM_018561	NP_061031		tolerated(0.61)	1,1	UBP49_HUMAN	USP49	HGNC	Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		A6PVU2_HUMAN		4	587	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		UPI000020DCE0	122					SNV	USP49,missense_variant,p.Ser122Leu,ENST00000394253,NM_001286554.1;USP49,missense_variant,p.Ser122Leu,ENST00000373006,NM_018561.3;USP49,missense_variant,p.Ser122Leu,ENST00000297229,;USP49,missense_variant,p.Ser122Leu,ENST00000373010,;USP49,missense_variant,p.Ser122Leu,ENST00000373009,;USP49,downstream_gene_variant,,ENST00000423567,;USP49,downstream_gene_variant,,ENST00000437061,;USP49,upstream_gene_variant,,ENST00000448078,;	uc003ori.2	c.365C>T	365/2067	2	2			c.365C>T						6	SNP	c.(364-366)TCG>TTG	29	29			ovary(1)|central_nervous_system(1)	2	Broad	ubiquitin thioesterase 49			41774357		0.692	ENSG00000164663	16827	g.chr6:41774357G>A	ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding							46.763491	KEEP	9	11	-1	11	26	9	11	-1	47.175813	11	26	0.395349	1	0	0	0	0	1	0	0	0	--	--		0	A				43	GBM-06-0190-TP	p.S122L	G	GTCCTCACCCGAAGCCATGGA	NM_018561	NP_061031	41774357	Q70CQ1	UBP49_HUMAN	0	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		4	587	-	A	A	Ovarian(28;0.0919)|Colorectal(47;0.121)		Missense_Mutation	122						
USP50	373509	broad.mit.edu	GRCh37	15	50838708	50838708	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0192-01	TCGA-06-0192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000532404.1:c.15G>A	p.Pro5=	p.P5=	ENST00000532404	NM_203494.4	5	ccG/ccA	0			1			T	P	uc001zyq.3	protein_coding	YES	CCDS53944.1			15/1005									lung(1)|breast(1)	2	c.(13-15)CCG>CCA				ubiquitin specific protease 50				ENSP00000434676		7-Jan	4.14E-05	0.000102		0.000348		1.50E-05			rs755371001,COSM3401808	7-Jan	.		ENST00000532404	Transcript			ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	ENSG00000170236	g.chr15:50838708C>T	20079			LOW								--	--	1																																			0,1	1			p.P5P	NM_203494	NP_987090			0,1		USP50	HGNC	E9PP86	E9PP86_HUMAN		all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)	E9PP86_HUMAN		1	195	-			UPI0001CB7F8F	5					SNV	USP50,synonymous_variant,p.=,ENST00000532404,NM_203494.4;USP50,non_coding_transcript_exon_variant,,ENST00000530218,;USP50,synonymous_variant,p.=,ENST00000559105,;	uc001zyq.3	c.15G>A	189/1386	2	2			c.15G>A						15	SNP	c.(13-15)CCG>CCA	48	48			lung(1)|breast(1)	2	Broad	ubiquitin specific protease 50			50838708		0.453	ENSG00000170236	16829	g.chr15:50838708C>T	ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity							21.484638	KEEP	11	4	-1	57	42	11	4	-1	32.610199	57	42	0.148936	1	0	0	0	0	0	0	1	0	--	--		0	T				44	GBM-06-0192-TP	p.P5P	C	CAGGGAGAGACGGCTGAGAAG	NM_203494	NP_987090	50838708	E9PP86	E9PP86_HUMAN	0		all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)	1	195	-	T	T			Silent	5						
USP51	0	broad.mit.edu	GRCh37	X	55513943	55513943	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01	TCGA-19-2631-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000500968.3:c.1430C>T	p.Pro477Leu	p.P477L	ENST00000500968	NM_201286.3	477	cCc/cTc	0			1			A	P/L	uc004dun.1	protein_coding	YES	CCDS14370.1			1430/2136									ovary(1)|lung(1)|breast(1)	3	c.(1429-1431)CCC>CTC			Superfamily_domains:SSF54001,Pfam_domain:PF00443,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF398,PROSITE_profiles:PS50235	ubiquitin specific protease 51				ENSP00000423333		2-Feb									COSM3406499	2-Feb	.		ENST00000500968	Transcript			ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	ENSG00000247746	g.chrX:55513943G>A	23086			MODERATE		1.77	low	getma.org/?cm=msa&ty=f&p=UBP51_HUMAN&rb=360&re=703&var=P477L	getma.org/pdb.php?prot=UBP51_HUMAN&from=360&to=703&var=P477L	getma.org/?cm=var&var=hg19,X,55513943,G,A&fts=all	P477L	--	--	1																																		USP51_uc011moo.1_Missense_Mutation_p.P181L	1	1		benign(0.003)	p.P477L	NM_201286	NP_958443		deleterious(0.03)	1	UBP51_HUMAN	USP51	HGNC	Q70EK9	UBP51_HUMAN					2	1509	-			UPI0000232F07	477					SNV	USP51,missense_variant,p.Pro477Leu,ENST00000500968,NM_201286.3;USP51,non_coding_transcript_exon_variant,,ENST00000586165,;	uc004dun.1	c.1430C>T	1513/4407	1	1			c.1430C>T						23	SNP	c.(1429-1431)CCC>CTC	55	55			ovary(1)|lung(1)|breast(1)	3	Broad	ubiquitin specific protease 51			55513943		0.478	ENSG00000247746	16830	g.chrX:55513943G>A	ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding							-66.739497	KEEP	6	7	-1	213	221	6	7	-1	22.802968	213	221	0.032086	1	0	0	0	0	1	0	0	0	--	--		0	A			USP51_uc011moo.1_Missense_Mutation_p.P181L	167	GBM-19-2631-TP	p.P477L	G	ACAGCAGTTGGGGTTATTGGC	NM_201286	NP_958443	55513943	Q70EK9	UBP51_HUMAN	0			2	1509	-	A	A			Missense_Mutation	477						
USP51	0	broad.mit.edu	GRCh37	X	55514642	55514642	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6285-01	TCGA-76-6285-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000500968.3:c.731A>G	p.Asn244Ser	p.N244S	ENST00000500968	NM_201286.3	244	aAc/aGc	0			1			C	N/S	uc004dun.1	protein_coding	YES	CCDS14370.1			731/2136									ovary(1)|lung(1)|breast(1)	3	c.(730-732)AAC>AGC			Superfamily_domains:SSF57850,Gene3D:3.30.40.10,Pfam_domain:PF02148,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF398,PROSITE_profiles:PS50271	ubiquitin specific protease 51				ENSP00000423333		2-Feb									COSM3406500	2-Feb	.		ENST00000500968	Transcript			ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	ENSG00000247746	g.chrX:55514642T>C	23086			MODERATE		0.4	neutral	getma.org/?cm=msa&ty=f&p=UBP51_HUMAN&rb=236&re=297&var=N244S	NA	getma.org/?cm=var&var=hg19,X,55514642,T,C&fts=all	N244S	--	--	1																																		USP51_uc011moo.1_Intron	1	1		benign(0.433)	p.N244S	NM_201286	NP_958443		tolerated(0.29)	1	UBP51_HUMAN	USP51	HGNC	Q70EK9	UBP51_HUMAN					2	810	-			UPI0000232F07	244			UBP-type.		SNV	USP51,missense_variant,p.Asn244Ser,ENST00000500968,NM_201286.3;USP51,intron_variant,,ENST00000586165,;	uc004dun.1	c.731A>G	814/4407	3	3			c.731A>G						23	SNP	c.(730-732)AAC>AGC	5	5			ovary(1)|lung(1)|breast(1)	3	Broad	ubiquitin specific protease 51			55514642		0.448	ENSG00000247746	16830	g.chrX:55514642T>C	ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding							155.059897	KEEP	17	27	-1	2	4	17	27	-1	161.540441	2	4	0.886364	1	0	0	0	0	1	0	0	0	--	--		0	C			USP51_uc011moo.1_Intron	280	GBM-76-6285-TP	p.N244S	T	GTGGAGTCTGTTCATATGGGT	NM_201286	NP_958443	55514642	Q70EK9	UBP51_HUMAN	0			2	810	-	C	C			Missense_Mutation	244			UBP-type.			
USP53	0	broad.mit.edu	GRCh37	4	120213685	120213686	+	frameshift_variant	Frame_Shift_Del	DEL	CT	CT	-			TCGA-19-2629-01	TCGA-19-2629-01	CT	CT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274030.6:c.2543_2544delCT	p.Ser848CysfsTer9	p.S848Cfs*9	ENST00000274030	NM_019050.2	847	aaCTct/aact	0			1			-	NS/NX	uc003ics.3	protein_coding		CCDS43265.1			2541-2542/3222									ovary(1)|breast(1)|kidney(1)|skin(1)	4	c.(2539-2544)AACTCTfs			hmmpanther:PTHR22975,hmmpanther:PTHR22975:SF6	ubiquitin specific protease 53				ENSP00000274030		19/19										19/19	.		ENST00000274030	Transcript			ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	ENSG00000145390	g.chr4:120213685_120213686delCT	29255	2		HIGH								--	--	1																																		USP53_uc003icr.3_Frame_Shift_Del_p.N847fs|USP53_uc003icu.3_Frame_Shift_Del_p.N470fs					p.N847fs	NM_019050	NP_061923				UBP53_HUMAN	USP53	HGNC	Q70EK8	UBP53_HUMAN					18	3607_3608	+			UPI0000251D9D	847_848					deletion	USP53,frameshift_variant,p.Ser848CysfsTer9,ENST00000450251,;USP53,frameshift_variant,p.Ser848CysfsTer9,ENST00000274030,NM_019050.2;C4orf3,downstream_gene_variant,,ENST00000399075,NM_001170330.1;USP53,3_prime_UTR_variant,,ENST00000509769,;	uc003ics.3	c.2541_2542delCT	3720-3721/5936	5	5			c.2541_2542delCT						4	DEL	c.(2539-2544)AACTCTfs	52	52			ovary(1)|breast(1)|kidney(1)|skin(1)	4	Broad	ubiquitin specific protease 53			120213686		0.391	ENSG00000145390	16831	g.chr4:120213685_120213686delCT	ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity																				0.21	1	1	0	1	0	0	0	0	0	--	--		0	-			USP53_uc003icr.3_Frame_Shift_Del_p.N847fs|USP53_uc003icu.3_Frame_Shift_Del_p.N470fs	166	GBM-19-2629-TP	p.N847fs	CT	ACGTTGATAACTCTGCTTCTGG	NM_019050	NP_061923	120213685	Q70EK8	UBP53_HUMAN	0			18	3607_3608	+	-	-			Frame_Shift_Del	847_848						
USP6	9098	broad.mit.edu	GRCh37	17	5042663	5042663	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0646-01	TCGA-06-0646-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000574788.1:c.1192C>T	p.Arg398Trp	p.R398W	ENST00000574788		398	Cgg/Tgg	0		T:0	1	T:0		T	R/W	uc002gau.1	protein_coding		CCDS11069.2			1192/4221	T		COL1A1|CDH11|ZNF9|OMD		aneurysmal bone cysts				skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5	c.(1192-1194)CGG>TGG			hmmpanther:PTHR24006:SF380,hmmpanther:PTHR24006	ubiquitin specific protease 6		T:0		ENSP00000250066	T:0	14/30	2.47E-05	9.92E-05				1.52E-05		6.06E-05	rs577155682,COSM3403010,COSM3403008,COSM3403009	14/30	.		ENST00000250066	Transcript		T:0.0002	protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	ENSG00000129204	g.chr17:5042663C>T	12629			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=UBP6_HUMAN&rb=371&re=449&var=R398W	NA	getma.org/?cm=var&var=hg19,17,5042663,C,T&fts=all	R398W	--	--	1																																		USP6_uc002gav.1_Missense_Mutation_p.R398W|USP6_uc010ckz.1_Missense_Mutation_p.R81W|uc002gbd.2_5'Flank	0,1,1,1			possibly_damaging(0.689)	p.R398W	NM_004505	NP_004496	T:0.001	tolerated_low_confidence(0.13)	0,1,1,1	UBP6_HUMAN	USP6	HGNC	P35125	UBP6_HUMAN			Q6U210_HUMAN		22	3422	+			UPI000006226F	398					SNV	USP6,missense_variant,p.Arg398Trp,ENST00000574788,;USP6,missense_variant,p.Arg398Trp,ENST00000332776,;USP6,missense_variant,p.Arg81Trp,ENST00000304328,;USP6,missense_variant,p.Arg398Trp,ENST00000250066,NM_004505.2;USP6,missense_variant,p.Arg398Trp,ENST00000572949,;USP6,3_prime_UTR_variant,,ENST00000575709,;USP6,downstream_gene_variant,,ENST00000357482,;	uc002gau.1	c.1192C>T	2891/7976	1	1			c.1192C>T	T		COL1A1|CDH11|ZNF9|OMD		aneurysmal bone cysts	17	SNP	c.(1192-1194)CGG>TGG	7	7			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5	Broad	ubiquitin specific protease 6			5042663		0.657	ENSG00000129204	16833	g.chr17:5042663C>T	protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			464			464	10.936133	KEEP	2	8	-1	36	39	2	8	-1	20.58027	36	39	0.126761	1	0	0	0	0	1	0	0	0	--	--		0	T			USP6_uc002gav.1_Missense_Mutation_p.R398W|USP6_uc010ckz.1_Missense_Mutation_p.R81W|uc002gbd.2_5'Flank	60	GBM-06-0646-TP	p.R398W	C	CCAGTTCCAGCGGCCCATTTG	NM_004505	NP_004496	5042663	P35125	UBP6_HUMAN	0			22	3422	+	T	T			Missense_Mutation	398						
USP6	0	broad.mit.edu	GRCh37	17	5037198	5037198	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01	TCGA-28-5207-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000250066.6:c.401G>A	p.Gly134Asp	p.G134D	ENST00000250066	NM_004505.2	134	gGc/gAc	0			1			A	G/D	uc002gau.1	protein_coding		CCDS11069.2			401/4221	T		COL1A1|CDH11|ZNF9|OMD		aneurysmal bone cysts				skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5	c.(400-402)GGC>GAC			PROSITE_profiles:PS50086,hmmpanther:PTHR24006:SF380,hmmpanther:PTHR24006,Pfam_domain:PF00566,Gene3D:2qq8A02,SMART_domains:SM00164,Superfamily_domains:SSF47923	ubiquitin specific protease 6				ENSP00000250066		30-Jul	8.24E-06					1.50E-05			rs778685597,COSM3403005,COSM3403004	30-Jul	.		ENST00000250066	Transcript			protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	ENSG00000129204	g.chr17:5037198G>A	12629			MODERATE		1.81	low	getma.org/?cm=msa&ty=f&p=UBP6_HUMAN&rb=103&re=312&var=G134D	getma.org/pdb.php?prot=UBP6_HUMAN&from=103&to=312&var=G134D	getma.org/?cm=var&var=hg19,17,5037198,G,A&fts=all	G134D	--	--	1																																		USP6_uc002gav.1_Missense_Mutation_p.G134D|USP6_uc010ckz.1_5'UTR|USP6_uc002gaw.2_Missense_Mutation_p.G195D|uc002gay.1_5'Flank|uc002gba.2_5'Flank|uc002gbb.2_5'Flank	0,1,1			probably_damaging(0.982)	p.G134D	NM_004505	NP_004496		deleterious_low_confidence(0)	0,1,1	UBP6_HUMAN	USP6	HGNC	P35125	UBP6_HUMAN			Q6U210_HUMAN		15	2631	+			UPI000006226F	134			Rab-GAP TBC.		SNV	USP6,missense_variant,p.Gly134Asp,ENST00000574788,;USP6,missense_variant,p.Gly134Asp,ENST00000332776,;USP6,missense_variant,p.Gly134Asp,ENST00000250066,NM_004505.2;USP6,5_prime_UTR_variant,,ENST00000304328,;USP6,downstream_gene_variant,,ENST00000572429,;USP6,missense_variant,p.Gly134Asp,ENST00000575709,;USP6,missense_variant,p.Gly134Asp,ENST00000572949,;USP6,non_coding_transcript_exon_variant,,ENST00000357482,;	uc002gau.1	c.401G>A	2100/7976	2	2			c.401G>A	T		COL1A1|CDH11|ZNF9|OMD		aneurysmal bone cysts	17	SNP	c.(400-402)GGC>GAC	35	35			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5	Broad	ubiquitin specific protease 6			5037198		0.552	ENSG00000129204	16833	g.chr17:5037198G>A	protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			464			464	30.457831	KEEP	16	17	-1	125	132	16	17	-1	66.16819	125	132	0.119522	1	0	0	0	0	1	0	0	0	--	--		0	A			USP6_uc002gav.1_Missense_Mutation_p.G134D|USP6_uc010ckz.1_5'UTR|USP6_uc002gaw.2_Missense_Mutation_p.G195D|uc002gay.1_5'Flank|uc002gba.2_5'Flank|uc002gbb.2_5'Flank	216	GBM-28-5207-TP	p.G134D	G	AAGGAGAGGGGCAAGAGGTCA	NM_004505	NP_004496	5037198	P35125	UBP6_HUMAN	0			15	2631	+	A	A			Missense_Mutation	134			Rab-GAP TBC.			
USP6	0	broad.mit.edu	GRCh37	17	5042870	5042870	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-41-2573-01	TCGA-41-2573-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000250066.6:c.1399T>A	p.Trp467Arg	p.W467R	ENST00000250066	NM_004505.2	467	Tgg/Agg	0			1			A	W/R	uc002gau.1	protein_coding		CCDS11069.2			1399/4221	T		COL1A1|CDH11|ZNF9|OMD		aneurysmal bone cysts				skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5	c.(1399-1401)TGG>AGG			hmmpanther:PTHR24006:SF380,hmmpanther:PTHR24006	ubiquitin specific protease 6				ENSP00000250066		14/30									COSM3403013,COSM3403011,COSM3403012	14/30	.		ENST00000250066	Transcript			protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	ENSG00000129204	g.chr17:5042870T>A	12629			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=UBP6_HUMAN&rb=451&re=489&var=W467R	NA	getma.org/?cm=var&var=hg19,17,5042870,T,A&fts=all	W467R	--	--	1																																		USP6_uc002gav.1_Missense_Mutation_p.W467R|USP6_uc010ckz.1_Missense_Mutation_p.W150R|uc002gbd.2_5'Flank	1,1,1			possibly_damaging(0.608)	p.W467R	NM_004505	NP_004496		deleterious_low_confidence(0)	1,1,1	UBP6_HUMAN	USP6	HGNC	P35125	UBP6_HUMAN			Q6U210_HUMAN		22	3629	+			UPI000006226F	467					SNV	USP6,missense_variant,p.Trp467Arg,ENST00000574788,;USP6,missense_variant,p.Trp467Arg,ENST00000332776,;USP6,missense_variant,p.Trp150Arg,ENST00000304328,;USP6,missense_variant,p.Trp467Arg,ENST00000250066,NM_004505.2;USP6,missense_variant,p.Trp467Arg,ENST00000572949,;USP6,3_prime_UTR_variant,,ENST00000575709,;USP6,downstream_gene_variant,,ENST00000357482,;	uc002gau.1	c.1399T>A	3098/7976	2	2			c.1399T>A	T		COL1A1|CDH11|ZNF9|OMD		aneurysmal bone cysts	17	SNP	c.(1399-1401)TGG>AGG	21	21			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5	Broad	ubiquitin specific protease 6			5042870		0.617	ENSG00000129204	16833	g.chr17:5042870T>A	protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			464			464	188.869839	KEEP	26	33	-1	14	13	26	33	-1	191.380637	14	13	0.682353	1	0	0	0	0	1	0	0	0	--	--		0	A			USP6_uc002gav.1_Missense_Mutation_p.W467R|USP6_uc010ckz.1_Missense_Mutation_p.W150R|uc002gbd.2_5'Flank	252	GBM-41-2573-TP	p.W467R	T	AGGGGGCCCTTGGTTCCCCCA	NM_004505	NP_004496	5042870	P35125	UBP6_HUMAN	0			22	3629	+	A	A			Missense_Mutation	467						
USP6	0	broad.mit.edu	GRCh37	17	5037255	5037255	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs138849740	byFrequency	TCGA-76-4935-01	TCGA-76-4935-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000250066.6:c.458G>A	p.Arg153Gln	p.R153Q	ENST00000250066	NM_004505.2	153	cGg/cAg	0	A:0.0011	A:0.0023	1	A:0		A	R/Q	uc002gau.1	protein_coding		CCDS11069.2			458/4221	T		COL1A1|CDH11|ZNF9|OMD		aneurysmal bone cysts				skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5	c.(457-459)CGG>CAG			PROSITE_profiles:PS50086,hmmpanther:PTHR24006:SF380,hmmpanther:PTHR24006,Pfam_domain:PF00566,Gene3D:2qq8A02,SMART_domains:SM00164,Superfamily_domains:SSF47923	ubiquitin specific protease 6		A:0	A:0	ENSP00000250066	A:0	30-Jul	7.41E-05	0.000769	8.64E-05						rs138849740,COSM3403007,COSM3403006	30-Jul	common_variant		ENST00000250066	Transcript		A:0.0006	protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	ENSG00000129204	g.chr17:5037255G>A	12629			MODERATE		1.795	low	getma.org/?cm=msa&ty=f&p=UBP6_HUMAN&rb=103&re=312&var=R153Q	getma.org/pdb.php?prot=UBP6_HUMAN&from=103&to=312&var=R153Q	getma.org/?cm=var&var=hg19,17,5037255,G,A&fts=all	R153Q	--	--	1																																		USP6_uc002gav.1_Missense_Mutation_p.R153Q|USP6_uc010ckz.1_5'UTR|USP6_uc002gaw.2_Missense_Mutation_p.R214Q|uc002gay.1_5'Flank|uc002gba.2_5'Flank|uc002gbb.2_5'Flank	0,1,1			possibly_damaging(0.553)	p.R153Q	NM_004505	NP_004496	A:0	tolerated_low_confidence(0.22)	0,1,1	UBP6_HUMAN	USP6	HGNC	P35125	UBP6_HUMAN			Q6U210_HUMAN		15	2688	+			UPI000006226F	153			Rab-GAP TBC.		SNV	USP6,missense_variant,p.Arg153Gln,ENST00000574788,;USP6,missense_variant,p.Arg153Gln,ENST00000332776,;USP6,missense_variant,p.Arg153Gln,ENST00000250066,NM_004505.2;USP6,5_prime_UTR_variant,,ENST00000304328,;USP6,downstream_gene_variant,,ENST00000572429,;USP6,missense_variant,p.Arg153Gln,ENST00000575709,;USP6,missense_variant,p.Arg153Gln,ENST00000572949,;USP6,non_coding_transcript_exon_variant,,ENST00000357482,;	uc002gau.1	c.458G>A	2157/7976	2	2			c.458G>A	T		COL1A1|CDH11|ZNF9|OMD		aneurysmal bone cysts	17	SNP	c.(457-459)CGG>CAG	38	38			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5	Broad	ubiquitin specific protease 6			5037255		0.562	ENSG00000129204	16833	g.chr17:5037255G>A	protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			464			464	173.989307	KEEP	30	30	-1	48	55	30	30	-1	175.842607	48	55	0.37931	1	0	0	0	0	1	0	0	0	--	--		0	A			USP6_uc002gav.1_Missense_Mutation_p.R153Q|USP6_uc010ckz.1_5'UTR|USP6_uc002gaw.2_Missense_Mutation_p.R214Q|uc002gay.1_5'Flank|uc002gba.2_5'Flank|uc002gbb.2_5'Flank	273	GBM-76-4935-TP	p.R153Q	G	ACGACTCTCCGGAACCATGTC	NM_004505	NP_004496	5037255	P35125	UBP6_HUMAN	0			15	2688	+	A	A			Missense_Mutation	153			Rab-GAP TBC.			
USP6NL	9712	broad.mit.edu	GRCh37	10	11505268	11505268	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0155-01	TCGA-06-0155-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000277575.5:c.1710C>T	p.Asn570=	p.N570=	ENST00000277575	NM_001080491.2	570	aaC/aaT	0			1			A	N	uc001ikt.3	protein_coding		CCDS53492.1			1659/2487										0	c.(1657-1659)AAC>AAT			hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF193	USP6 N-terminal like isoform 1				ENSP00000476462		15/15	2.48E-05		8.66E-05			3.01E-05			rs779869414,COSM180863	15/15	.		ENST00000609104	Transcript				intracellular	Rab GTPase activator activity	ENSG00000148429	g.chr10:11505268G>A	16858			LOW								--	--	1																																		USP6NL_uc001iks.1_Silent_p.N570N	0,1				p.N553N	NM_014688	NP_055503			0,1		USP6NL	HGNC	Q92738	US6NL_HUMAN					15	1980	-			UPI000000DA06	553					SNV	USP6NL,synonymous_variant,p.=,ENST00000609104,NM_014688.2;USP6NL,synonymous_variant,p.=,ENST00000379237,;USP6NL,synonymous_variant,p.=,ENST00000277575,NM_001080491.2;	uc001ikt.3	c.1659C>T	2054/11377	1	1			c.1659C>T						10	SNP	c.(1657-1659)AAC>AAT	58	58				0	Broad	USP6 N-terminal like isoform 1			11505268		0.662	ENSG00000148429	16834	g.chr10:11505268G>A		intracellular	Rab GTPase activator activity							194.711683	KEEP	35	34	-1	6	16	35	34	-1	199.250737	6	16	0.75	1	0	0	0	0	0	0	1	0	--	--		0	A			USP6NL_uc001iks.1_Silent_p.N570N	27	GBM-06-0155-TP	p.N553N	G	GGCCTGGCACGTTGTCGTACT	NM_014688	NP_055503	11505268	Q92738	US6NL_HUMAN	0			15	1980	-	A	A			Silent	553						
USP7	7874		GRCh37	16	8998407	8998407	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000344836.4:c.1589C>T	p.Ala530Val	p.A530V	ENST00000344836	NM_003470.2	530	gCg/gTg	0																																																																																																																																																																																																																																												
USP8	9101		GRCh37	15	50788098	50788098	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000433963.1:c.2712T>C	p.Phe904=	p.F904=	ENST00000433963	NM_001128611.1	904	ttT/ttC	0																																																																																																																																																																																																																																												
USP9X	8239	broad.mit.edu	GRCh37	X	41075440	41075440	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-02-0047-01	TCGA-02-0047-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324545.8:c.5620C>T	p.Gln1874Ter	p.Q1874*	ENST00000324545	NM_001039590.2	1874	Caa/Taa	0			1			T	Q/*	uc004dfb.2	protein_coding	YES	CCDS43930.1			5620/7713									lung(3)|breast(2)|ovary(1)	6	c.(5620-5622)CAA>TAA			Superfamily_domains:SSF54001,Pfam_domain:PF00443,PROSITE_patterns:PS00973,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF359,PROSITE_profiles:PS50235	ubiquitin specific protease 9, X-linked isoform				ENSP00000316357		35/45									COSM2149004,COSM2149003	35/45	.		ENST00000324545	Transcript	1		BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	ENSG00000124486	g.chrX:41075440C>T	12632			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,X,41075440,C,T&fts=all	Q1874*	--	--	1																																		USP9X_uc004dfc.2_Nonsense_Mutation_p.Q1874*	1,1	1			p.Q1874*	NM_001039590	NP_001034679			1,1	USP9X_HUMAN	USP9X	HGNC	Q93008	USP9X_HUMAN					35	6253	+			UPI00001AF419	1874					SNV	USP9X,stop_gained,p.Gln1874Ter,ENST00000324545,NM_001039590.2,NM_001039591.2;USP9X,stop_gained,p.Gln1874Ter,ENST00000378308,;	uc004dfb.2	c.5620C>T	6253/12401	5	1			c.5620C>T						23	SNP	c.(5620-5622)CAA>TAA	1	1			lung(3)|breast(2)|ovary(1)	6	Broad	ubiquitin specific protease 9, X-linked isoform			41075440		0.443	ENSG00000124486	16837	g.chrX:41075440C>T	BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	Ovarian(172;1807 2695 35459 49286)			Ovarian(172;1807 2695 35459 49286)			137.485457	KEEP	27	21	-1	12	14	27	21	-1	138.741383	12	14	0.642857	1	0	0	0	0	0	1	0	0	--	--		0	T			USP9X_uc004dfc.2_Nonsense_Mutation_p.Q1874*	3	GBM-02-0047-TP	p.Q1874*	C	ACACAGTGGTCAAGCGAGTGG	NM_001039590	NP_001034679	41075440	Q93008	USP9X_HUMAN	0			35	6253	+	T	T			Nonsense_Mutation	1874						
USP9X	8239	broad.mit.edu	GRCh37	X	41075424	41075424	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5412-01	TCGA-06-5412-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324545.8:c.5604G>A	p.Val1868=	p.V1868=	ENST00000324545	NM_001039590.2	1868	gtG/gtA	0			1			A	V	uc004dfb.2	protein_coding	YES	CCDS43930.1			5604/7713									lung(3)|breast(2)|ovary(1)	6	c.(5602-5604)GTG>GTA			Superfamily_domains:SSF54001,Pfam_domain:PF00443,PROSITE_patterns:PS00973,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF359,PROSITE_profiles:PS50235	ubiquitin specific protease 9, X-linked isoform				ENSP00000316357		35/45	8.24E-06					2.08E-05			rs753567750,COSM3406371,COSM3406370	35/45	.		ENST00000324545	Transcript	1		BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	ENSG00000124486	g.chrX:41075424G>A	12632			LOW								--	--	1																																		USP9X_uc004dfc.2_Silent_p.V1868V	0,1,1	1			p.V1868V	NM_001039590	NP_001034679			0,1,1	USP9X_HUMAN	USP9X	HGNC	Q93008	USP9X_HUMAN					35	6237	+			UPI00001AF419	1868					SNV	USP9X,synonymous_variant,p.=,ENST00000324545,NM_001039590.2,NM_001039591.2;USP9X,synonymous_variant,p.=,ENST00000378308,;	uc004dfb.2	c.5604G>A	6237/12401	1	1			c.5604G>A						23	SNP	c.(5602-5604)GTG>GTA	61	61			lung(3)|breast(2)|ovary(1)	6	Broad	ubiquitin specific protease 9, X-linked isoform			41075424		0.448	ENSG00000124486	16837	g.chrX:41075424G>A	BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	Ovarian(172;1807 2695 35459 49286)			Ovarian(172;1807 2695 35459 49286)			-4.830473	KEEP	4	8	-1	59	82	4	8	-1	20.304409	59	82	0.074074	1	0	0	0	0	0	0	1	0	--	--		0	A			USP9X_uc004dfc.2_Silent_p.V1868V	95	GBM-06-5412-TP	p.V1868V	G	TTGTGGGTGTGCTCGTACACA	NM_001039590	NP_001034679	41075424	Q93008	USP9X_HUMAN	0			35	6237	+	A	A			Silent	1868						
USP9X	0	broad.mit.edu	GRCh37	X	41075579	41075579	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-27-1838-01	TCGA-27-1838-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324545.8:c.5759G>C	p.Cys1920Ser	p.C1920S	ENST00000324545	NM_001039590.2	1920	tGt/tCt	0			1			C	C/S	uc004dfb.2	protein_coding	YES	CCDS43930.1			5759/7713									lung(3)|breast(2)|ovary(1)	6	c.(5758-5760)TGT>TCT			Superfamily_domains:SSF54001,Pfam_domain:PF00443,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF359,PROSITE_profiles:PS50235	ubiquitin specific protease 9, X-linked isoform				ENSP00000316357		35/45									COSM3406373,COSM3406372	35/45	.		ENST00000324545	Transcript	1		BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	ENSG00000124486	g.chrX:41075579G>C	12632			MODERATE		2.085	medium	getma.org/?cm=msa&ty=f&p=USP9X_HUMAN&rb=1554&re=1953&var=C1920S	getma.org/pdb.php?prot=USP9X_HUMAN&from=1554&to=1953&var=C1920S	getma.org/?cm=var&var=hg19,X,41075579,G,C&fts=all	C1920S	--	--	1																																		USP9X_uc004dfc.2_Missense_Mutation_p.C1920S	1,1	1		probably_damaging(0.99)	p.C1920S	NM_001039590	NP_001034679		deleterious(0.03)	1,1	USP9X_HUMAN	USP9X	HGNC	Q93008	USP9X_HUMAN					35	6392	+			UPI00001AF419	1920					SNV	USP9X,missense_variant,p.Cys1920Ser,ENST00000324545,NM_001039590.2,NM_001039591.2;USP9X,missense_variant,p.Cys1920Ser,ENST00000378308,;	uc004dfb.2	c.5759G>C	6392/12401	3	3			c.5759G>C						23	SNP	c.(5758-5760)TGT>TCT	61	61			lung(3)|breast(2)|ovary(1)	6	Broad	ubiquitin specific protease 9, X-linked isoform			41075579		0.388	ENSG00000124486	16837	g.chrX:41075579G>C	BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	Ovarian(172;1807 2695 35459 49286)			Ovarian(172;1807 2695 35459 49286)			8.544752	KEEP	10	14	-1	153	148	10	14	-1	63.860063	153	148	0.078689	1	0	0	0	0	1	0	0	0	--	--		0	C			USP9X_uc004dfc.2_Missense_Mutation_p.C1920S	197	GBM-27-1838-TP	p.C1920S	G	AAAAACCAGTGTTTTGGTGGA	NM_001039590	NP_001034679	41075579	Q93008	USP9X_HUMAN	0			35	6392	+	C	C			Missense_Mutation	1920						
USPL1	0	broad.mit.edu	GRCh37	13	31232152	31232152	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-76-4932-01	TCGA-76-4932-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255304.4:c.1938A>G	p.Gln646=	p.Q646=	ENST00000255304	NM_005800.4	646	caA/caG	0			1			G	Q	uc001utc.2	protein_coding	YES	CCDS9336.1			1938/3279									pancreas(2)|skin(1)	3	c.(1936-1938)CAA>CAG			hmmpanther:PTHR15294,Pfam_domain:PF15509	ubiquitin specific peptidase like 1				ENSP00000255304		9-Sep									COSM3399331	9-Sep	.		ENST00000255304	Transcript			ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	ENSG00000132952	g.chr13:31232152A>G	20294			LOW								--	--	1																																		USPL1_uc001utd.2_Silent_p.Q317Q|USPL1_uc001ute.1_Silent_p.Q317Q	1	1			p.Q646Q	NM_005800	NP_005791			1	USPL1_HUMAN	USPL1	HGNC	Q5W0Q7	USPL1_HUMAN		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)			9	2370	+		Lung SC(185;0.0257)|Breast(139;0.203)	UPI000013CEA3	646					SNV	USPL1,synonymous_variant,p.=,ENST00000255304,NM_005800.4;	uc001utc.2	c.1938A>G	2280/3814	3	3			c.1938A>G						13	SNP	c.(1936-1938)CAA>CAG	6	6			pancreas(2)|skin(1)	3	Broad	ubiquitin specific peptidase like 1			31232152		0.343	ENSG00000132952	16839	g.chr13:31232152A>G	ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	Ovarian(60;318 1180 1554 28110 31601)			Ovarian(60;318 1180 1554 28110 31601)			155.410891	KEEP	18	29	-1	34	49	18	29	-1	157.430346	34	49	0.365079	1	0	0	0	0	0	0	1	0	--	--		0	G			USPL1_uc001utd.2_Silent_p.Q317Q|USPL1_uc001ute.1_Silent_p.Q317Q	271	GBM-76-4932-TP	p.Q646Q	A	AGCTTATTCAAGACCAATTTG	NM_005800	NP_005791	31232152	Q5W0Q7	USPL1_HUMAN	0		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)	9	2370	+	G	G		Lung SC(185;0.0257)|Breast(139;0.203)	Silent	646						
UST	0	broad.mit.edu	GRCh37	6	149342488	149342488	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5204-01	TCGA-28-5204-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367463.4:c.808G>A	p.Ala270Thr	p.A270T	ENST00000367463	NM_005715.2	270	Gca/Aca	0			1			A	A/T	uc003qmg.2	protein_coding	YES	CCDS5213.1			808/1221									ovary(2)	2	c.(808-810)GCA>ACA			hmmpanther:PTHR12129:SF11,hmmpanther:PTHR12129,Pfam_domain:PF03567	uronyl-2-sulfotransferase				ENSP00000356433		8-Jul									COSM3410652	8-Jul	.		ENST00000367463	Transcript			protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity	ENSG00000111962	g.chr6:149342488G>A	17223			MODERATE		2.81	medium	getma.org/?cm=msa&ty=f&p=UST_HUMAN&rb=97&re=358&var=A270T	getma.org/pdb.php?prot=UST_HUMAN&from=97&to=358&var=A270T	getma.org/?cm=var&var=hg19,6,149342488,G,A&fts=all	A270T	--	--	1																																			1	1		probably_damaging(0.992)	p.A270T	NM_005715	NP_005706		deleterious(0)	1	UST_HUMAN	UST	HGNC	Q9Y2C2	UST_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)			7	1104	+		Ovarian(120;0.0907)	UPI000006EF6A	270			Lumenal (Potential).		SNV	UST,missense_variant,p.Ala270Thr,ENST00000367463,NM_005715.2;	uc003qmg.2	c.808G>A	911/4198	1	1			c.808G>A						6	SNP	c.(808-810)GCA>ACA	63	63			ovary(2)	2	Broad	uronyl-2-sulfotransferase			149342488		0.388	ENSG00000111962	16840	g.chr6:149342488G>A	protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity							-3.720885	KEEP	2	1	-1	28	21	2	1	-1	6.952221	28	21	0.057692	1	0	0	0	0	1	0	0	0	--	--		0	A				215	GBM-28-5204-TP	p.A270T	G	CCTTGAGAGAGCAAAGCTGAA	NM_005715	NP_005706	149342488	Q9Y2C2	UST_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)	7	1104	+	A	A		Ovarian(120;0.0907)	Missense_Mutation	270			Lumenal (Potential).			
UTP15	0	broad.mit.edu	GRCh37	5	72866479	72866480	+	stop_gained	Nonsense_Mutation	DNP	GG	GG	TA			TCGA-76-4926-01	TCGA-76-4926-01	GG	GG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296792.4:c.616_617delGGinsTA	p.Gly206Ter	p.G206*	ENST00000296792	NM_032175.2	206	GGg/TAg	0			1			TA	G/*	uc003kcw.1	protein_coding	YES	CCDS34186.1			616-617/1557										0	c.(616-618)GGG>TAG			Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50294,hmmpanther:PTHR19924,SMART_domains:SM00320,Superfamily_domains:SSF50978	UTP15, U3 small nucleolar ribonucleoprotein,				ENSP00000296792		13-Jun										13-Jun	.		ENST00000296792	Transcript			rRNA processing	cytoplasm|nucleolus		ENSG00000164338	g.chr5:72866479_72866480GG>TA	25758			HIGH								--	--	1																																		UTP15_uc011cso.1_Nonsense_Mutation_p.G187*|UTP15_uc011csp.1_Nonsense_Mutation_p.G16*|UTP15_uc010ize.1_Nonsense_Mutation_p.G206*		1			p.G206*	NM_032175	NP_115551				UTP15_HUMAN	UTP15	HGNC	Q8TED0	UTP15_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)	D6RF65_HUMAN,B4DU75_HUMAN		6	839_840	+		Lung NSC(167;0.00405)|Ovarian(174;0.0129)	UPI000020CADC	206			WD 5.		substitution	UTP15,stop_gained,p.Gly206Ter,ENST00000296792,NM_032175.2;UTP15,stop_gained,p.Gly16Ter,ENST00000543251,NM_001284431.1;UTP15,stop_gained,p.Gly233Ter,ENST00000509005,;UTP15,stop_gained,p.Gly187Ter,ENST00000508491,NM_001284430.1;ANKRA2,upstream_gene_variant,,ENST00000296785,NM_023039.4;UTP15,downstream_gene_variant,,ENST00000513824,;UTP15,downstream_gene_variant,,ENST00000508686,;ANKRA2,upstream_gene_variant,,ENST00000515804,;UTP15,upstream_gene_variant,,ENST00000512550,;UTP15,downstream_gene_variant,,ENST00000510478,;	uc003kcw.1	c.616_617GG>TA	871-872/3687	5	2			c.616_617GG>TA						5	DNP	c.(616-618)GGG>TAG	21	21				0	Broad	UTP15, U3 small nucleolar ribonucleoprotein,			72866480		0.401	ENSG00000164338	16844	g.chr5:72866479_72866480GG>TA	rRNA processing	cytoplasm|nucleolus								264.377121	KEEP	0	0	-1	0	0	0	0	-1	265.950922	0	0	0.412766	1	0	0	0	0	0	1	0	0	--	--		0	TA			UTP15_uc011cso.1_Nonsense_Mutation_p.G187*|UTP15_uc011csp.1_Nonsense_Mutation_p.G16*|UTP15_uc010ize.1_Nonsense_Mutation_p.G206*	266	GBM-76-4926-TP	p.G206*	GG	CGTTGAGCATGGGCAGCCAGTG	NM_032175	NP_115551	72866479	Q8TED0	UTP15_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)	6	839_840	+	TA	TA		Lung NSC(167;0.00405)|Ovarian(174;0.0129)	Nonsense_Mutation	206			WD 5.			
UTP15	84135		GRCh37	5	72864347	72864347	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000296792.4:c.286G>A	p.Val96Met	p.V96M	ENST00000296792	NM_032175.2	96	Gtg/Atg	0																																																																																																																																																																																																																																												
UTRN	7402	broad.mit.edu	GRCh37	6	144809879	144809879	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0648-01	TCGA-06-0648-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367545.3:c.4043T>A	p.Val1348Asp	p.V1348D	ENST00000367545	NM_007124.2	1348	gTc/gAc	0			1			A	V/D	uc003qkt.2	protein_coding	YES	CCDS34547.1			4043/10302									ovary(4)|pancreas(1)	5	c.(4042-4044)GTC>GAC			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915:SF225,hmmpanther:PTHR11915,PIRSF_domain:PIRSF002341	utrophin				ENSP00000356515		29/74									COSM3410639	29/74	.		ENST00000367545	Transcript			muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	ENSG00000152818	g.chr6:144809879T>A	12635			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=UTRO_HUMAN&rb=1231&re=1430&var=V1348D	NA	getma.org/?cm=var&var=hg19,6,144809879,T,A&fts=all	V1348D	--	--	1																																			1	1		probably_damaging(0.934)	p.V1348D	NM_007124	NP_009055		tolerated(0.1)	1	UTRO_HUMAN	UTRN	HGNC	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	Q6LBS5_HUMAN,Q5SYY2_HUMAN,Q5JT45_HUMAN		29	4135	+		Ovarian(120;0.218)	UPI00003673F1	1348			Interaction with SYNM.		SNV	UTRN,missense_variant,p.Val1348Asp,ENST00000367545,NM_007124.2;	uc003qkt.2	c.4043T>A	4043/12339	2	2			c.4043T>A						6	SNP	c.(4042-4044)GTC>GAC	32	32			ovary(4)|pancreas(1)	5	Broad	utrophin			144809879		0.483	ENSG00000152818	16850	g.chr6:144809879T>A	muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding							15.91285	KEEP	3	8	-1	37	24	3	8	-1	23.585653	37	24	0.151515	1	0	0	0	0	1	0	0	0	--	--		0	A				61	GBM-06-0648-TP	p.V1348D	T	ATGCTTCAAGTCTTGCAAGAG	NM_007124	NP_009055	144809879	P46939	UTRO_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	29	4135	+	A	A		Ovarian(120;0.218)	Missense_Mutation	1348			Interaction with SYNM.			
UTRN	0	broad.mit.edu	GRCh37	6	145115044	145115044	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-12-0616-01	TCGA-12-0616-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367545.3:c.8995A>G	p.Ile2999Val	p.I2999V	ENST00000367545	NM_007124.2	2999	Atc/Gtc	0			1			G	I/V	uc003qkt.2	protein_coding	YES	CCDS34547.1			8995/10302									ovary(4)|pancreas(1)	5	c.(8995-8997)ATC>GTC			hmmpanther:PTHR11915:SF225,hmmpanther:PTHR11915,Gene3D:1.10.238.10,Pfam_domain:PF09069,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF47473	utrophin				ENSP00000356515		62/74									COSM3410642,COSM3410643	62/74	.		ENST00000367545	Transcript			muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	ENSG00000152818	g.chr6:145115044A>G	12635			MODERATE		0.92	low	getma.org/?cm=msa&ty=f&p=UTRO_HUMAN&rb=2968&re=3059&var=I2999V	getma.org/pdb.php?prot=UTRO_HUMAN&from=2968&to=3059&var=I2999V	getma.org/?cm=var&var=hg19,6,145115044,A,G&fts=all	I2999V	--	--	1																																			1,1	1		possibly_damaging(0.868)	p.I2999V	NM_007124	NP_009055		tolerated(0.09)	1,1	UTRO_HUMAN	UTRN	HGNC	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	Q6LBS5_HUMAN,Q5SYY2_HUMAN,Q5JT45_HUMAN		62	9087	+		Ovarian(120;0.218)	UPI00003673F1	2999			Interaction with SYNM.		SNV	UTRN,missense_variant,p.Ile2999Val,ENST00000367545,NM_007124.2;UTRN,missense_variant,p.Ile554Val,ENST00000367526,;UTRN,missense_variant,p.Ile43Val,ENST00000367524,;UTRN,upstream_gene_variant,,ENST00000417142,;UTRN,upstream_gene_variant,,ENST00000432686,;	uc003qkt.2	c.8995A>G	8995/12339	3	3			c.8995A>G						6	SNP	c.(8995-8997)ATC>GTC	13	13			ovary(4)|pancreas(1)	5	Broad	utrophin			145115044		0.498	ENSG00000152818	16850	g.chr6:145115044A>G	muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding							-8.573573	KEEP	5	3	-1	60	73	5	3	-1	17.328851	60	73	0.056	1	0	0	0	0	1	0	0	0	--	--		0	G				118	GBM-12-0616-TP	p.I2999V	A	TCATGATGCCATCCAGATCCC	NM_007124	NP_009055	145115044	P46939	UTRO_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	62	9087	+	G	G		Ovarian(120;0.218)	Missense_Mutation	2999			Interaction with SYNM.			
UTRN	0	broad.mit.edu	GRCh37	6	144757266	144757266	+	missense_variant	Missense_Mutation	SNP	A	A	T	rs150684617		TCGA-14-0740-01	TCGA-14-0740-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367545.3:c.1051A>T	p.Thr351Ser	p.T351S	ENST00000367545	NM_007124.2	351	Acc/Tcc	0	T:0		1			T	T/S	uc003qkt.2	protein_coding	YES	CCDS34547.1			1051/10302									ovary(4)|pancreas(1)	5	c.(1051-1053)ACC>TCC			hmmpanther:PTHR11915:SF225,hmmpanther:PTHR11915,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966	utrophin			T:0.0003	ENSP00000356515		Sep-74	0.000107					0.000196			rs150684617,COSM3410638	Sep-74	.		ENST00000367545	Transcript			muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	ENSG00000152818	g.chr6:144757266A>T	12635			MODERATE		2.115	medium	getma.org/?cm=msa&ty=f&p=UTRO_HUMAN&rb=309&re=417&var=T351S	getma.org/pdb.php?prot=UTRO_HUMAN&from=309&to=417&var=T351S	getma.org/?cm=var&var=hg19,6,144757266,A,T&fts=all	T351S	--	--	1																																		UTRN_uc010khq.1_Missense_Mutation_p.T351S	0,1	1		possibly_damaging(0.839)	p.T351S	NM_007124	NP_009055		deleterious(0)	0,1	UTRO_HUMAN	UTRN	HGNC	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	Q6LBS5_HUMAN,Q5SYY2_HUMAN,Q5JT45_HUMAN		9	1143	+		Ovarian(120;0.218)	UPI00003673F1	351			Interaction with SYNM.|Spectrin 2.		SNV	UTRN,missense_variant,p.Thr351Ser,ENST00000367545,NM_007124.2;	uc003qkt.2	c.1051A>T	1051/12339	2	2			c.1051A>T						6	SNP	c.(1051-1053)ACC>TCC	24	24			ovary(4)|pancreas(1)	5	Broad	utrophin			144757266		0.453	ENSG00000152818	16850	g.chr6:144757266A>T	muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding							30.221001	KEEP	9	6	-1	29	34	9	6	-1	36.276838	29	34	0.197183	1	0	0	0	0	1	0	0	0	--	--		0	T			UTRN_uc010khq.1_Missense_Mutation_p.T351S	132	GBM-14-0740-TP	p.T351S	A	CCAGTTTGCAACCCATGAAGT	NM_007124	NP_009055	144757266	P46939	UTRO_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	9	1143	+	T	T		Ovarian(120;0.218)	Missense_Mutation	351			Interaction with SYNM.|Spectrin 2.			
UTRN	0	broad.mit.edu	GRCh37	6	145103130	145103130	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01	TCGA-19-1790-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367545.3:c.8705T>C	p.Leu2902Pro	p.L2902P	ENST00000367545	NM_007124.2	2902	cTc/cCc	0			1			C	L/P	uc003qkt.2	protein_coding	YES	CCDS34547.1			8705/10302									ovary(4)|pancreas(1)	5	c.(8704-8706)CTC>CCC			hmmpanther:PTHR11915:SF225,hmmpanther:PTHR11915,Gene3D:1.10.238.10,Pfam_domain:PF09068,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF47473	utrophin				ENSP00000356515		60/74									COSM3410640,COSM3410641	60/74	.		ENST00000367545	Transcript			muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	ENSG00000152818	g.chr6:145103130T>C	12635			MODERATE		2.195	medium	getma.org/?cm=msa&ty=f&p=UTRO_HUMAN&rb=2844&re=2964&var=L2902P	getma.org/pdb.php?prot=UTRO_HUMAN&from=2844&to=2964&var=L2902P	getma.org/?cm=var&var=hg19,6,145103130,T,C&fts=all	L2902P	--	--	1																																			1,1	1		probably_damaging(0.962)	p.L2902P	NM_007124	NP_009055		deleterious(0)	1,1	UTRO_HUMAN	UTRN	HGNC	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	Q6LBS5_HUMAN,Q5SYY2_HUMAN,Q5JT45_HUMAN		60	8797	+		Ovarian(120;0.218)	UPI00003673F1	2902			Interaction with SYNM.		SNV	UTRN,missense_variant,p.Leu2902Pro,ENST00000367545,NM_007124.2;UTRN,missense_variant,p.Leu457Pro,ENST00000367526,;	uc003qkt.2	c.8705T>C	8705/12339	3	3			c.8705T>C						6	SNP	c.(8704-8706)CTC>CCC	4	4			ovary(4)|pancreas(1)	5	Broad	utrophin			145103130		0.403	ENSG00000152818	16850	g.chr6:145103130T>C	muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding							-13.355554	KEEP	3	0	-1	41	52	3	0	-1	6.375553	41	52	0.035714	1	0	0	0	0	1	0	0	0	--	--		0	C				160	GBM-19-1790-TP	p.L2902P	T	GACCAGCTCCTCAGTGTTCCA	NM_007124	NP_009055	145103130	P46939	UTRO_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	60	8797	+	C	C		Ovarian(120;0.218)	Missense_Mutation	2902			Interaction with SYNM.			
UVRAG	7405	broad.mit.edu	GRCh37	11	75590966	75590966	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01	TCGA-02-2485-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356136.3:c.314G>A	p.Arg105His	p.R105H	ENST00000356136	NM_003369.3	105	cGt/cAt	0	A:0.0002		1			A	R/H	uc001oxc.2	protein_coding	YES	CCDS8241.1			314/2100									skin(4)|lung(2)	6	c.(313-315)CGT>CAT			hmmpanther:PTHR15157,hmmpanther:PTHR15157:SF5,SMART_domains:SM00239,Superfamily_domains:SSF49562	UV radiation resistance associated			A:0	ENSP00000348455		15-Apr	0.000115	0.000384	0.000864						rs200253982,COSM3398138	15-Apr	common_variant		ENST00000356136	Transcript			DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	ENSG00000198382	g.chr11:75590966G>A	12640			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=UVRAG_HUMAN&rb=44&re=123&var=R105H	NA	getma.org/?cm=var&var=hg19,11,75590966,G,A&fts=all	R105H	--	--	1																																		UVRAG_uc010rrw.1_Missense_Mutation_p.R4H	0,1	1		benign(0.022)	p.R105H	NM_003369	NP_003360		tolerated(0.53)	0,1	UVRAG_HUMAN	UVRAG	HGNC	Q9P2Y5	UVRAG_HUMAN			E9PR71_HUMAN,E9PK00_HUMAN,B3KTC1_HUMAN		4	555	+			UPI0000137F03	105			C2.		SNV	UVRAG,missense_variant,p.Arg105His,ENST00000356136,NM_003369.3;UVRAG,missense_variant,p.Arg4His,ENST00000528420,;UVRAG,missense_variant,p.Arg4His,ENST00000528264,;	uc001oxc.2	c.314G>A	555/4123	2	2			c.314G>A						11	SNP	c.(313-315)CGT>CAT	32	32			skin(4)|lung(2)	6	Broad	UV radiation resistance associated			75590966		0.423	ENSG00000198382	16855	g.chr11:75590966G>A	DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding							585.219404	KEEP	105	105	-1	158	185	105	105	-1	590.094649	158	185	0.394366	1	0	0	0	0	1	0	0	0	--	--		0	A			UVRAG_uc010rrw.1_Missense_Mutation_p.R4H	7	GBM-02-2485-TP	p.R105H	G	ATGCCAGACCGTCTTGATACA	NM_003369	NP_003360	75590966	Q9P2Y5	UVRAG_HUMAN	0			4	555	+	A	A			Missense_Mutation	105			C2.			
UVRAG	0	broad.mit.edu	GRCh37	11	75852116	75852116	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-28-5215-01	TCGA-28-5215-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356136.3:c.1759G>T	p.Glu587Ter	p.E587*	ENST00000356136	NM_003369.3	587	Gaa/Taa	0			1			T	E/*	uc001oxc.2	protein_coding	YES	CCDS8241.1			1759/2100									skin(4)|lung(2)	6	c.(1759-1761)GAA>TAA			hmmpanther:PTHR15157,hmmpanther:PTHR15157:SF5	UV radiation resistance associated				ENSP00000348455		15/15									COSM3398139	15/15	.		ENST00000356136	Transcript			DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	ENSG00000198382	g.chr11:75852116G>T	12640			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,11,75852116,G,T&fts=all	E587*	--	--	1																																		UVRAG_uc010rrw.1_Nonsense_Mutation_p.E486*|UVRAG_uc001oxd.2_Nonsense_Mutation_p.E215*|UVRAG_uc010rrx.1_Nonsense_Mutation_p.E215*|UVRAG_uc010rry.1_Nonsense_Mutation_p.E143*	1	1			p.E587*	NM_003369	NP_003360			1	UVRAG_HUMAN	UVRAG	HGNC	Q9P2Y5	UVRAG_HUMAN			E9PR71_HUMAN,E9PK00_HUMAN,B3KTC1_HUMAN		15	2000	+			UPI0000137F03	587					SNV	UVRAG,stop_gained,p.Glu587Ter,ENST00000356136,NM_003369.3;UVRAG,stop_gained,p.Glu215Ter,ENST00000531818,;UVRAG,stop_gained,p.Glu486Ter,ENST00000528420,;UVRAG,stop_gained,p.Glu215Ter,ENST00000532130,;UVRAG,stop_gained,p.Glu215Ter,ENST00000533454,;UVRAG,stop_gained,p.Glu215Ter,ENST00000539288,;UVRAG,stop_gained,p.Glu143Ter,ENST00000538870,;CTD-2011F17.2,upstream_gene_variant,,ENST00000529298,;UVRAG,3_prime_UTR_variant,,ENST00000525183,;	uc001oxc.2	c.1759G>T	2000/4123	5	2			c.1759G>T						11	SNP	c.(1759-1761)GAA>TAA	18	18			skin(4)|lung(2)	6	Broad	UV radiation resistance associated			75852116		0.577	ENSG00000198382	16855	g.chr11:75852116G>T	DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding							-3.684403	KEEP	4	4	0.5	48	56	4	4	0.5	13.549419	48	56	0.082474	1	0	0	0	0	0	1	0	0	--	--		0	T			UVRAG_uc010rrw.1_Nonsense_Mutation_p.E486*|UVRAG_uc001oxd.2_Nonsense_Mutation_p.E215*|UVRAG_uc010rrx.1_Nonsense_Mutation_p.E215*|UVRAG_uc010rry.1_Nonsense_Mutation_p.E143*	222	GBM-28-5215-TP	p.E587*	G	AGAACAAGGAGAAGCCCTCTC	NM_003369	NP_003360	75852116	Q9P2Y5	UVRAG_HUMAN	0			15	2000	+	T	T			Nonsense_Mutation	587						
UXS1	80146	broad.mit.edu	GRCh37	2	106761696	106761696	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0189-01	TCGA-06-0189-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283148.7:c.422A>G	p.Glu141Gly	p.E141G	ENST00000283148	NM_001253875.1	141	gAg/gGg	0			1			C	E/G	uc002tdm.2	protein_coding		CCDS46378.1			407/1263									ovary(2)	2	c.(406-408)GAG>GGG			hmmpanther:PTHR10366:SF35,hmmpanther:PTHR10366,Pfam_domain:PF01370,Gene3D:3.40.50.720,Superfamily_domains:SSF51735	UDP-glucuronate decarboxylase 1				ENSP00000387019		15-Jun									COSM2150619,COSM2150618	15-Jun	.		ENST00000409501	Transcript			cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity	ENSG00000115652	g.chr2:106761696T>C	17729			MODERATE		0.4	neutral	getma.org/?cm=msa&ty=f&p=UXS1_HUMAN&rb=91&re=324&var=E136G	getma.org/pdb.php?prot=UXS1_HUMAN&from=91&to=324&var=E136G	getma.org/?cm=var&var=hg19,2,106761696,T,C&fts=all	E136G	--	--	1																																		UXS1_uc002tdn.2_Missense_Mutation_p.E141G|UXS1_uc002tdo.2_Missense_Mutation_p.E79G|UXS1_uc010ywh.1_Intron	1,1			benign(0.071)	p.E136G	NM_025076	NP_079352		deleterious(0.01)	1,1	UXS1_HUMAN	UXS1	HGNC	Q8NBZ7	UXS1_HUMAN			Q8ND26_HUMAN,C9JW33_HUMAN,C9JFU6_HUMAN,C9JCB7_HUMAN,C9J3T9_HUMAN,B3KV61_HUMAN		6	505	-			UPI0000047828	136			NAD.|Lumenal (Potential).		SNV	UXS1,missense_variant,p.Glu141Gly,ENST00000283148,NM_001253875.1,NM_025076.4;UXS1,missense_variant,p.Glu79Gly,ENST00000540130,;UXS1,missense_variant,p.Glu136Gly,ENST00000409501,;UXS1,missense_variant,p.Glu79Gly,ENST00000457835,;UXS1,5_prime_UTR_variant,,ENST00000444193,;UXS1,intron_variant,,ENST00000428048,;UXS1,intron_variant,,ENST00000416298,;UXS1,intron_variant,,ENST00000441952,;UXS1,non_coding_transcript_exon_variant,,ENST00000479621,;UXS1,non_coding_transcript_exon_variant,,ENST00000479774,;UXS1,downstream_gene_variant,,ENST00000483426,;	uc002tdm.2	c.407A>G	465/1839	3	3			c.407A>G						2	SNP	c.(406-408)GAG>GGG	58	58			ovary(2)	2	Broad	UDP-glucuronate decarboxylase 1			106761696		0.512	ENSG00000115652	16856	g.chr2:106761696T>C	cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity							56.247407	KEEP	11	13	-1	53	36	11	13	-1	64.008287	53	36	0.206186	1	0	0	0	0	1	0	0	0	--	--		0	C			UXS1_uc002tdn.2_Missense_Mutation_p.E141G|UXS1_uc002tdo.2_Missense_Mutation_p.E79G|UXS1_uc010ywh.1_Intron	42	GBM-06-0189-TP	p.E136G	T	CTCGAAGTTCTCATGTCCGAT	NM_025076	NP_079352	106761696	Q8NBZ7	UXS1_HUMAN	0			6	505	-	C	C			Missense_Mutation	136			NAD.|Lumenal (Potential).			
VAMP3	9341	broad.mit.edu	GRCh37	1	7838212	7838214	+	inframe_deletion	In_Frame_Del	DEL	TCA	TCA	-			TCGA-06-5418-01	TCGA-06-5418-01	TCA	TCA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000054666.6:c.280_282del	p.Ile94del	p.I94del	ENST00000054666	NM_004781.3	89	tTCAtc/ttc	0			1			-	FI/F	uc001aol.2	protein_coding	YES	CCDS88.1			266-268/303										0	c.(265-270)TTCATC>TTC			Gene3D:2kogA00,Pfam_domain:PF00957,PIRSF_domain:PIRSF005409,Prints_domain:PR00219,hmmpanther:PTHR21136,hmmpanther:PTHR21136:SF78,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix	vesicle-associated membrane protein 3				ENSP00000054666		5-Apr									rs752706951,COSM1163683	5-Apr	.		ENST00000054666	Transcript			cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding	ENSG00000049245	g.chr1:7838212_7838214delTCA	12644	14		MODERATE								--	--	1																																			0,1	1			p.I94del	NM_004781	NP_004772			0,1	VAMP3_HUMAN	VAMP3	HGNC	Q15836	VAMP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	Q6FGG2_HUMAN,K7EKX0_HUMAN		4	381_383	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	UPI00001380F2	94			Helical; Anchor for type IV membrane protein; (Potential).		deletion	VAMP3,inframe_deletion,p.Ile94del,ENST00000054666,NM_004781.3;VAMP3,inframe_deletion,p.Ile66del,ENST00000470357,;RP3-467L1.6,downstream_gene_variant,,ENST00000602406,;VAMP3,non_coding_transcript_exon_variant,,ENST00000487194,;	uc001aol.2	c.266_268delTCA	381-383/2205	5	5			c.266_268delTCA						1	DEL	c.(265-270)TTCATC>TTC	49	49				0	Broad	vesicle-associated membrane protein 3			7838214		0.365	ENSG00000049245	16861	g.chr1:7838212_7838214delTCA	cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding																				0.02	1	1	0	1	0	0	0	0	0	--	--		0	-				100	GBM-06-5418-TP	p.I94del	TCA	CTGGTTATCTTCATCATCATCAT	NM_004781	NP_004772	7838212	Q15836	VAMP3_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	4	381_383	+	-	-	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	In_Frame_Del	94			Helical; Anchor for type IV membrane protein; (Potential).			
VAMP5	0	broad.mit.edu	GRCh37	2	85818867	85818867	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01	TCGA-26-5135-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306384.4:c.23G>A	p.Arg8Gln	p.R8Q	ENST00000306384	NM_006634.2	8	cGg/cAg	0			1			A	R/Q	uc002spu.1	protein_coding	YES	CCDS1980.1			23/351										0	c.(22-24)CGG>CAG			PROSITE_profiles:PS50892,hmmpanther:PTHR21136:SF82,hmmpanther:PTHR21136,Pfam_domain:PF00957,Gene3D:2kogA00,PIRSF_domain:PIRSF005409,Superfamily_domains:SSF58038	vesicle-associated membrane protein 5				ENSP00000305647		3-Feb	2.47E-05	9.61E-05				3.00E-05			rs769759669,COSM2157081	3-Feb	.		ENST00000306384	Transcript			cell differentiation|vesicle-mediated transport	endomembrane system		ENSG00000168899	g.chr2:85818867G>A	12646			MODERATE		-0.06	neutral	getma.org/?cm=msa&ty=f&p=VAMP5_HUMAN&rb=3&re=90&var=R8Q	getma.org/pdb.php?prot=VAMP5_HUMAN&from=3&to=90&var=R8Q	getma.org/?cm=var&var=hg19,2,85818867,G,A&fts=all	R8Q	--	--	1																																			0,1	1		benign(0.098)	p.R8Q	NM_006634	NP_006625		tolerated(0.69)	0,1	VAMP5_HUMAN	VAMP5	HGNC	O95183	VAMP5_HUMAN			Q6FG93_HUMAN		2	106	+			UPI00001380F4	8			v-SNARE coiled-coil homology.|Cytoplasmic (Potential).		SNV	VAMP5,missense_variant,p.Arg8Gln,ENST00000306384,NM_006634.2;RNF181,upstream_gene_variant,,ENST00000441634,;RNF181,upstream_gene_variant,,ENST00000306368,NM_016494.3;RNF181,upstream_gene_variant,,ENST00000456023,;RNF181,upstream_gene_variant,,ENST00000414390,;VAMP5,non_coding_transcript_exon_variant,,ENST00000462451,;RNF181,upstream_gene_variant,,ENST00000461845,;RNF181,upstream_gene_variant,,ENST00000443647,;	uc002spu.1	c.23G>A	106/689	1	1			c.23G>A						2	SNP	c.(22-24)CGG>CAG	61	61				0	Broad	vesicle-associated membrane protein 5			85818867		0.602	ENSG00000168899	16863	g.chr2:85818867G>A	cell differentiation|vesicle-mediated transport	endomembrane system								162.066425	KEEP	26	34	-1	55	68	26	34	-1	164.276716	55	68	0.370861	1	0	0	0	0	1	0	0	0	--	--		0	A				184	GBM-26-5135-TP	p.R8Q	G	GAGTTGGAGCGGTGCCAGCAG	NM_006634	NP_006625	85818867	O95183	VAMP5_HUMAN	0			2	106	+	A	A			Missense_Mutation	8			v-SNARE coiled-coil homology.|Cytoplasmic (Potential).			
VANGL1	81839	broad.mit.edu	GRCh37	1	116226676	116226676	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355485.2:c.1058G>A	p.Arg353Gln	p.R353Q	ENST00000355485	NM_001172411.1	353	cGa/cAa	0			1			A	R/Q	uc001efv.1	protein_coding		CCDS883.1			1058/1575									central_nervous_system(1)	1	c.(1057-1059)CGA>CAA			Low_complexity_(Seg):seg,hmmpanther:PTHR20886:SF8,hmmpanther:PTHR20886,Pfam_domain:PF06638,PIRSF_domain:PIRSF007991	vang-like 1				ENSP00000310800		8-Jun	8.24E-06	9.61E-05							rs770589524,COSM3399572	8-Jun	.		ENST00000310260	Transcript	1		multicellular organismal development	integral to membrane	protein binding	ENSG00000173218	g.chr1:116226676G>A	15512			MODERATE		3.07	medium	getma.org/?cm=msa&ty=f&p=VANG1_HUMAN&rb=23&re=524&var=R353Q	NA	getma.org/?cm=var&var=hg19,1,116226676,G,A&fts=all	R353Q	--	--	1																																		VANGL1_uc009wgy.1_Missense_Mutation_p.R351Q	0,1			probably_damaging(0.953)	p.R353Q	NM_138959	NP_620409		deleterious(0)	0,1	VANG1_HUMAN	VANGL1	HGNC	Q8TAA9	VANG1_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)			6	1329	+	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)	UPI0000070B72	353			Cytoplasmic (Potential).		SNV	VANGL1,missense_variant,p.Arg353Gln,ENST00000355485,NM_001172411.1,NM_138959.2;VANGL1,missense_variant,p.Arg351Gln,ENST00000369510,;VANGL1,missense_variant,p.Arg353Gln,ENST00000310260,NM_001172412.1;VANGL1,missense_variant,p.Arg353Gln,ENST00000369509,;VANGL1,non_coding_transcript_exon_variant,,ENST00000474344,;VANGL1,non_coding_transcript_exon_variant,,ENST00000478369,;	uc001efv.1	c.1058G>A	1273/2265	1	1			c.1058G>A						1	SNP	c.(1057-1059)CGA>CAA	60	60			central_nervous_system(1)	1	Broad	vang-like 1			116226676		0.438	ENSG00000173218	16865	g.chr1:116226676G>A	multicellular organismal development	integral to membrane	protein binding							157.511013	KEEP	26	27	-1	9	13	26	27	-1	161.260553	9	13	0.758065	1	0	0	0	0	1	0	0	0	--	--		0	A			VANGL1_uc009wgy.1_Missense_Mutation_p.R351Q	102	GBM-06-5858-TP	p.R353Q	G	CATGAACGGCGAGTAAAGAAG	NM_138959	NP_620409	116226676	Q8TAA9	VANG1_HUMAN	0		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	6	1329	+	A	A	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)	Missense_Mutation	353			Cytoplasmic (Potential).			
VARS	0	broad.mit.edu	GRCh37	6	31746760	31746760	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-6700-01	TCGA-06-6700-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375663.3:c.3710A>G	p.Glu1237Gly	p.E1237G	ENST00000375663	NM_006295.2	1237	gAg/gGg	0			1			C	E/G	uc003nxe.2	protein_coding	YES	CCDS34412.1			3710/3795									upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	c.(3709-3711)GAG>GGG			TIGRFAM_domain:TIGR00422,hmmpanther:PTHR11946,hmmpanther:PTHR11946:SF54,HAMAP:MF_02004,Coiled-coils_(Ncoils):Coil	valyl-tRNA synthetase	L-Valine(DB00161)			ENSP00000364815		29/30									COSM3410947	29/30	.		ENST00000375663	Transcript			translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	ENSG00000204394	g.chr6:31746760T>C	12651			MODERATE		2.11	medium	getma.org/?cm=msa&ty=f&p=SYVC_HUMAN&rb=1140&re=1264&var=E1237G	NA	getma.org/?cm=var&var=hg19,6,31746760,T,C&fts=all	E1237G	--	--	1																																		C6orf27_uc011dog.1_5'Flank|C6orf27_uc003nxd.2_5'Flank|C6orf27_uc011doh.1_5'Flank|VARS_uc003nxf.1_Missense_Mutation_p.E174G	1	1		benign(0.014)	p.E1237G	NM_006295	NP_006286		tolerated(0.05)	1	SYVC_HUMAN	VARS	HGNC	P26640	SYVC_HUMAN			A2ABF4_HUMAN		29	4133	-			UPI00001366EA	1237					SNV	VARS,missense_variant,p.Glu1237Gly,ENST00000375663,NM_006295.2;VWA7,upstream_gene_variant,,ENST00000375686,NM_025258.2;VWA7,upstream_gene_variant,,ENST00000375688,;VWA7,upstream_gene_variant,,ENST00000447450,;VARS,downstream_gene_variant,,ENST00000444930,;VARS,downstream_gene_variant,,ENST00000428445,;Y_RNA,upstream_gene_variant,,ENST00000364685,;VWA7,upstream_gene_variant,,ENST00000467576,;VARS,downstream_gene_variant,,ENST00000482996,;VWA7,upstream_gene_variant,,ENST00000497645,;VARS,downstream_gene_variant,,ENST00000483275,;VARS,upstream_gene_variant,,ENST00000470953,;VARS,downstream_gene_variant,,ENST00000474643,;VARS,downstream_gene_variant,,ENST00000461874,;VARS,downstream_gene_variant,,ENST00000459667,;VARS,downstream_gene_variant,,ENST00000461328,;VARS,downstream_gene_variant,,ENST00000463184,;VARS,downstream_gene_variant,,ENST00000479051,;	uc003nxe.2	c.3710A>G	4151/4312	3	3			c.3710A>G						6	SNP	c.(3709-3711)GAG>GGG	9	9			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	Broad	valyl-tRNA synthetase		L-Valine(DB00161)	31746760		0.562	ENSG00000204394	16869	g.chr6:31746760T>C	translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity							48.775633	KEEP	7	13	-1	28	18	7	13	-1	51.239749	28	18	0.280702	1	0	0	0	0	1	0	0	0	--	--		0	C			C6orf27_uc011dog.1_5'Flank|C6orf27_uc003nxd.2_5'Flank|C6orf27_uc011doh.1_5'Flank|VARS_uc003nxf.1_Missense_Mutation_p.E174G	114	GBM-06-6700-TP	p.E1237G	T	TTCATCTGCCTCCTGGACTTC	NM_006295	NP_006286	31746760	P26640	SYVC_HUMAN	0			29	4133	-	C	C			Missense_Mutation	1237						
VARS	0	broad.mit.edu	GRCh37	6	31749730	31749730	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T			TCGA-14-1034-01	TCGA-14-1034-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375663.3:c.2242-1G>A		p.X748_splice	ENST00000375663	NM_006295.2			0			1			T		uc003nxe.2	protein_coding	YES	CCDS34412.1			2242/3795									upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	c.e19-1				valyl-tRNA synthetase	L-Valine(DB00161)			ENSP00000364815											COSM3410948		.		ENST00000375663	Transcript			translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	ENSG00000204394	g.chr6:31749730C>T	12651			HIGH	18/29							--	--	1																																		VARS_uc003nxf.1_5'Flank|VARS_uc011doi.1_Splice_Site	1	1			p.D748_splice	NM_006295	NP_006286			1	SYVC_HUMAN	VARS	HGNC	P26640	SYVC_HUMAN			A2ABF4_HUMAN		19	2665	-			UPI00001366EA						SNV	VARS,splice_acceptor_variant,,ENST00000375663,NM_006295.2;VARS,splice_acceptor_variant,,ENST00000444930,;VARS,splice_acceptor_variant,,ENST00000428445,;VWA7,upstream_gene_variant,,ENST00000375686,NM_025258.2;VWA7,upstream_gene_variant,,ENST00000375688,;VWA7,upstream_gene_variant,,ENST00000447450,;Y_RNA,upstream_gene_variant,,ENST00000364685,;VARS,splice_acceptor_variant,,ENST00000482996,;VARS,splice_acceptor_variant,,ENST00000483275,;VWA7,upstream_gene_variant,,ENST00000467576,;VARS,upstream_gene_variant,,ENST00000470953,;VARS,splice_acceptor_variant,,ENST00000474643,;VARS,splice_acceptor_variant,,ENST00000461874,;VARS,downstream_gene_variant,,ENST00000495010,;VARS,upstream_gene_variant,,ENST00000459667,;VARS,downstream_gene_variant,,ENST00000461328,;VARS,downstream_gene_variant,,ENST00000489979,;VARS,upstream_gene_variant,,ENST00000463184,;VARS,upstream_gene_variant,,ENST00000479051,;	uc003nxe.2	c.2242_splice	-/4312	5	2			c.2242_splice						6	SNP	c.e19-1	40	40			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	Broad	valyl-tRNA synthetase		L-Valine(DB00161)	31749730		0.632	ENSG00000204394	16869	g.chr6:31749730C>T	translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity							6.670188	KEEP	4	3	-1	98	97	4	3	-1	17.859514	98	97	0.1	1	0	0	0	0	0	0	0	1	--	--		0	T			VARS_uc003nxf.1_5'Flank|VARS_uc011doi.1_Splice_Site	142	GBM-14-1034-TP	p.D748_splice	C	CATCAGGGTCCTGCCACAGGT	NM_006295	NP_006286	31749730	P26640	SYVC_HUMAN	0			19	2665	-	T	T			Splice_Site							
VARS2	57176	broad.mit.edu	GRCh37	6	30893483	30893483	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-5417-01	TCGA-06-5417-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000541562.1:c.3038A>G	p.Tyr1013Cys	p.Y1013C	ENST00000541562	NM_001167734.1	1013	tAc/tGc	0			1			G	Y/C	uc003nsc.1	protein_coding		CCDS34387.1			2948/3192									ovary(3)|central_nervous_system(1)	4	c.(2947-2949)TAC>TGC			hmmpanther:PTHR11946,hmmpanther:PTHR11946:SF71,Superfamily_domains:SSF47323	valyl-tRNA synthetase 2, mitochondrial				ENSP00000316092		27/29									COSM2153317	27/29	.		ENST00000321897	Transcript	1		valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	ENSG00000137411	g.chr6:30893483A>G	21642			MODERATE		2.08	medium	getma.org/?cm=msa&ty=f&p=SYVM_HUMAN&rb=932&re=1063&var=Y983C	NA	getma.org/?cm=var&var=hg19,6,30893483,A,G&fts=all	Y983C	--	--	1																																		VARS2_uc011dmx.1_Missense_Mutation_p.Y983C|VARS2_uc011dmy.1_Missense_Mutation_p.Y843C|VARS2_uc011dmz.1_Missense_Mutation_p.Y1013C|VARS2_uc011dna.1_Missense_Mutation_p.Y981C|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_Missense_Mutation_p.Y421C|VARS2_uc010jsg.1_Missense_Mutation_p.Y355C|VARS2_uc010jsh.1_Missense_Mutation_p.Y127C	1			possibly_damaging(0.566)	p.Y983C	NM_020442	NP_065175		deleterious(0.01)	1	SYVM_HUMAN	VARS2	HGNC	Q5ST30	SYVM_HUMAN			B7ZCJ6_HUMAN,A2ABL6_HUMAN		27	3580	+			UPI0000253B83	983					SNV	VARS2,missense_variant,p.Tyr983Cys,ENST00000321897,;VARS2,missense_variant,p.Tyr1013Cys,ENST00000541562,NM_001167734.1;VARS2,missense_variant,p.Tyr983Cys,ENST00000416670,NM_020442.4;VARS2,missense_variant,p.Tyr843Cys,ENST00000542001,NM_001167733.1;VARS2,non_coding_transcript_exon_variant,,ENST00000476162,;VARS2,non_coding_transcript_exon_variant,,ENST00000477288,;VARS2,non_coding_transcript_exon_variant,,ENST00000469358,;VARS2,non_coding_transcript_exon_variant,,ENST00000473916,;VARS2,downstream_gene_variant,,ENST00000477052,;	uc003nsc.1	c.2948A>G	3580/4073	3	3			c.2948A>G						6	SNP	c.(2947-2949)TAC>TGC	3	3			ovary(3)|central_nervous_system(1)	4	Broad	valyl-tRNA synthetase 2, mitochondrial			30893483		0.647	ENSG00000137411	16870	g.chr6:30893483A>G	valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity							67.251175	KEEP	9	11	-1	9	15	9	11	-1	67.273793	9	15	0.473684	1	0	0	0	0	1	0	0	0	--	--		0	G			VARS2_uc011dmx.1_Missense_Mutation_p.Y983C|VARS2_uc011dmy.1_Missense_Mutation_p.Y843C|VARS2_uc011dmz.1_Missense_Mutation_p.Y1013C|VARS2_uc011dna.1_Missense_Mutation_p.Y981C|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_Missense_Mutation_p.Y421C|VARS2_uc010jsg.1_Missense_Mutation_p.Y355C|VARS2_uc010jsh.1_Missense_Mutation_p.Y127C	99	GBM-06-5417-TP	p.Y983C	A	GCTCAAGTCTACATGGAGCTG	NM_020442	NP_065175	30893483	Q5ST30	SYVM_HUMAN	0			27	3580	+	G	G			Missense_Mutation	983						
VARS2	0	broad.mit.edu	GRCh37	6	30883807	30883807	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-27-2518-01	TCGA-27-2518-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321897.5:c.556G>T	p.Ala186Ser	p.A186S	ENST00000321897		186	Gca/Tca	0			1			T	A/S	uc003nsc.1	protein_coding		CCDS34387.1			556/3192									ovary(3)|central_nervous_system(1)	4	c.(556-558)GCA>TCA			hmmpanther:PTHR11946,hmmpanther:PTHR11946:SF71,Pfam_domain:PF00133,TIGRFAM_domain:TIGR00422,Gene3D:3.40.50.620,Superfamily_domains:SSF52374	valyl-tRNA synthetase 2, mitochondrial				ENSP00000316092		29-May									COSM2157275	29-May	.		ENST00000321897	Transcript	1		valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	ENSG00000137411	g.chr6:30883807G>T	21642			MODERATE		3.165	medium	getma.org/?cm=msa&ty=f&p=SYVM_HUMAN&rb=112&re=735&var=A186S	getma.org/pdb.php?prot=SYVM_HUMAN&from=112&to=735&var=A186S	getma.org/?cm=var&var=hg19,6,30883807,G,T&fts=all	A186S	--	--	1																																		VARS2_uc003nsd.2_Missense_Mutation_p.A186S|VARS2_uc011dmx.1_Missense_Mutation_p.A186S|VARS2_uc011dmy.1_Missense_Mutation_p.A46S|VARS2_uc011dmz.1_Missense_Mutation_p.A216S|VARS2_uc011dna.1_Missense_Mutation_p.A186S|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_5'Flank	1			probably_damaging(0.988)	p.A186S	NM_020442	NP_065175		deleterious(0)	1	SYVM_HUMAN	VARS2	HGNC	Q5ST30	SYVM_HUMAN			B7ZCJ6_HUMAN,A2ABL6_HUMAN		5	1188	+			UPI0000253B83	186					SNV	VARS2,missense_variant,p.Ala186Ser,ENST00000321897,;VARS2,missense_variant,p.Ala216Ser,ENST00000541562,NM_001167734.1;VARS2,missense_variant,p.Ala186Ser,ENST00000416670,NM_020442.4;VARS2,missense_variant,p.Ala46Ser,ENST00000542001,NM_001167733.1;VARS2,missense_variant,p.Ala186Ser,ENST00000428017,;GTF2H4,downstream_gene_variant,,ENST00000259895,NM_001517.4;GTF2H4,downstream_gene_variant,,ENST00000376316,;GTF2H4,downstream_gene_variant,,ENST00000539324,;VARS2,downstream_gene_variant,,ENST00000421263,;VARS2,non_coding_transcript_exon_variant,,ENST00000467717,;VARS2,upstream_gene_variant,,ENST00000476162,;VARS2,non_coding_transcript_exon_variant,,ENST00000477288,;VARS2,upstream_gene_variant,,ENST00000469358,;GTF2H4,downstream_gene_variant,,ENST00000487746,;GTF2H4,downstream_gene_variant,,ENST00000483318,;VARS2,upstream_gene_variant,,ENST00000490699,;GTF2H4,downstream_gene_variant,,ENST00000475845,;	uc003nsc.1	c.556G>T	1188/4073	2	2			c.556G>T						6	SNP	c.(556-558)GCA>TCA	47	47			ovary(3)|central_nervous_system(1)	4	Broad	valyl-tRNA synthetase 2, mitochondrial			30883807		0.478	ENSG00000137411	16870	g.chr6:30883807G>T	valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity							350.862683	KEEP	77	70	0.523809524	155	167	77	70	0.523809524	364.369387	155	167	0.308252	1	0	0	0	0	1	0	0	0	--	--		0	T			VARS2_uc003nsd.2_Missense_Mutation_p.A186S|VARS2_uc011dmx.1_Missense_Mutation_p.A186S|VARS2_uc011dmy.1_Missense_Mutation_p.A46S|VARS2_uc011dmz.1_Missense_Mutation_p.A216S|VARS2_uc011dna.1_Missense_Mutation_p.A186S|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_5'Flank	198	GBM-27-2518-TP	p.A186S	G	TTCAGATCATGCAGGAATTGC	NM_020442	NP_065175	30883807	Q5ST30	SYVM_HUMAN	0			5	1188	+	T	T			Missense_Mutation	186						
VASP	7408	broad.mit.edu	GRCh37	19	46027874	46027874	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-2564-01	TCGA-06-2564-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000245932.6:c.1003A>G	p.Thr335Ala	p.T335A	ENST00000245932	NM_003370.3	335	Acg/Gcg	0			1			G	T/A	uc002pcg.2	protein_coding	YES	CCDS33051.1			1003/1143										0	c.(1003-1005)ACG>GCG			hmmpanther:PTHR11202:SF12,hmmpanther:PTHR11202,PIRSF_domain:PIRSF038010	vasodilator-stimulated phosphoprotein				ENSP00000245932		13-Nov									COSM3404384	13-Nov	.		ENST00000245932	Transcript			axon guidance|cell junction assembly|T cell receptor signaling pathway	actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane	actin binding|profilin binding|SH3 domain binding	ENSG00000125753	g.chr19:46027874A>G	12652			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=VASP_HUMAN&rb=281&re=369&var=T335A	NA	getma.org/?cm=var&var=hg19,19,46027874,A,G&fts=all	T335A	--	--	1																																		VASP_uc010eki.2_Missense_Mutation_p.T169A|VASP_uc002pci.2_Missense_Mutation_p.T321A	1	1		benign(0.014)	p.T335A	NM_003370	NP_003361		tolerated(0.48)	1	VASP_HUMAN	VASP	HGNC	P50552	VASP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)	K7ENR7_HUMAN		11	1345	+		Ovarian(192;0.051)|all_neural(266;0.112)	UPI0000001C69	335			EVH2.		SNV	VASP,missense_variant,p.Thr335Ala,ENST00000245932,NM_003370.3;OPA3,downstream_gene_variant,,ENST00000323060,NM_001017989.2;VASP,downstream_gene_variant,,ENST00000592139,;VASP,downstream_gene_variant,,ENST00000590603,;VASP,downstream_gene_variant,,ENST00000586619,;VASP,missense_variant,p.Thr104Ala,ENST00000588482,;VASP,3_prime_UTR_variant,,ENST00000586014,;VASP,non_coding_transcript_exon_variant,,ENST00000588273,;VASP,downstream_gene_variant,,ENST00000588463,;VASP,downstream_gene_variant,,ENST00000590459,;VASP,upstream_gene_variant,,ENST00000587444,;	uc002pcg.2	c.1003A>G	1359/2305	4	4			c.1003A>G						19	SNP	c.(1003-1005)ACG>GCG	21	21				0	Broad	vasodilator-stimulated phosphoprotein			46027874		0.498	ENSG00000125753	16874	g.chr19:46027874A>G	axon guidance|cell junction assembly|T cell receptor signaling pathway	actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane	actin binding|profilin binding|SH3 domain binding							-14.116837	KEEP	2	4	-1	56	66	2	4	-1	10.723444	56	66	0.044643	1	0	0	0	0	1	0	0	0	--	--		0	G			VASP_uc010eki.2_Missense_Mutation_p.T169A|VASP_uc002pci.2_Missense_Mutation_p.T321A	87	GBM-06-2564-TP	p.T335A	A	CCAACCCTGCACGCCCAGCTC	NM_003370	NP_003361	46027874	P50552	VASP_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)	11	1345	+	G	G		Ovarian(192;0.051)|all_neural(266;0.112)	Missense_Mutation	335			EVH2.			
VAT1	0	broad.mit.edu	GRCh37	17	41168349	41168349	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-2491-01	TCGA-32-2491-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355653.3:c.1073T>C	p.Ile358Thr	p.I358T	ENST00000355653	NM_006373.3	358	aTt/aCt	0			1			G	I/T	uc002icm.1	protein_coding	YES	CCDS11451.1			1073/1182										0	c.(1072-1074)ATT>ACT			hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF470,SMART_domains:SM00829	vesicle amine transport protein 1				ENSP00000347872		6-May									COSM3402919	6-May	.		ENST00000355653	Transcript				cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding	ENSG00000108828	g.chr17:41168349A>G	16919			MODERATE		3.455	medium	getma.org/?cm=msa&ty=f&p=VAT1_HUMAN&rb=342&re=393&var=I358T	getma.org/pdb.php?prot=VAT1_HUMAN&from=342&to=393&var=I358T	getma.org/?cm=var&var=hg19,17,41168349,A,G&fts=all	I358T	--	--	1																																		VAT1_uc010cyw.1_Missense_Mutation_p.I224T|VAT1_uc010whk.1_Missense_Mutation_p.I290T	1	1		probably_damaging(0.971)	p.I358T	NM_006373	NP_006364		deleterious(0)	1	VAT1_HUMAN	VAT1	HGNC	Q99536	VAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	K7ERT7_HUMAN,K7ER81_HUMAN,K7ENX2_HUMAN,B3KUF8_HUMAN,B0AZP7_HUMAN		5	1193	-		Breast(137;0.000717)	UPI000006DA93	358					SNV	VAT1,missense_variant,p.Ile358Thr,ENST00000355653,NM_006373.3;VAT1,missense_variant,p.Ile290Thr,ENST00000587173,;VAT1,missense_variant,p.Ile224Thr,ENST00000420567,;VAT1,missense_variant,p.Ile106Thr,ENST00000587147,;IFI35,downstream_gene_variant,,ENST00000415816,NM_005533.4;IFI35,downstream_gene_variant,,ENST00000438323,;VAT1,downstream_gene_variant,,ENST00000590924,;VAT1,downstream_gene_variant,,ENST00000587062,;VAT1,downstream_gene_variant,,ENST00000589709,;VAT1,downstream_gene_variant,,ENST00000589828,;IFI35,downstream_gene_variant,,ENST00000536969,;IFI35,downstream_gene_variant,,ENST00000246911,;IFI35,downstream_gene_variant,,ENST00000396722,;IFI35,downstream_gene_variant,,ENST00000546325,;VAT1,upstream_gene_variant,,ENST00000592388,;IFI35,downstream_gene_variant,,ENST00000538473,;IFI35,downstream_gene_variant,,ENST00000534876,;	uc002icm.1	c.1073T>C	1169/2734	4	4			c.1073T>C						17	SNP	c.(1072-1074)ATT>ACT	21	21				0	Broad	vesicle amine transport protein 1			41168349		0.607	ENSG00000108828	16875	g.chr17:41168349A>G		cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding							73.421241	KEEP	16	10	-1	21	38	16	10	-1	76.591866	21	38	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	G			VAT1_uc010cyw.1_Missense_Mutation_p.I224T|VAT1_uc010whk.1_Missense_Mutation_p.I290T	235	GBM-32-2491-TP	p.I358T	A	GACTGAGTCAATGTGGGGCTT	NM_006373	NP_006364	41168349	Q99536	VAT1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(366;0.156)	5	1193	-	G	G		Breast(137;0.000717)	Missense_Mutation	358						
VAV1	7409	broad.mit.edu	GRCh37	19	6772889	6772889	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-2563-01	TCGA-06-2563-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000602142.1:c.71C>A	p.Thr24Asn	p.T24N	ENST00000602142	NM_005428.3	24	aCc/aAc	0			1			A	T/N	uc002mfu.1	protein_coding	YES	CCDS12174.1			71/2538									lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16	c.(70-72)ACC>AAC			Gene3D:1.10.418.10,Pfam_domain:PF11971,PROSITE_profiles:PS50021,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF112,SMART_domains:SM00033,Superfamily_domains:SSF47576	vav 1 guanine nucleotide exchange factor				ENSP00000472929		27-Jan									COSM2152911,COSM3404759	27-Jan	.		ENST00000602142	Transcript			apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	ENSG00000141968	g.chr19:6772889C>A	12657			MODERATE		1.605	low	getma.org/?cm=msa&ty=f&p=VAV_HUMAN&rb=4&re=119&var=T24N	getma.org/pdb.php?prot=VAV_HUMAN&from=4&to=119&var=T24N	getma.org/?cm=var&var=hg19,19,6772889,C,A&fts=all	T24N	--	--	1																																		VAV1_uc010xjh.1_Missense_Mutation_p.T24N|VAV1_uc010dva.1_Missense_Mutation_p.T24N	1,1	1		probably_damaging(0.977)	p.T24N	NM_005428	NP_005419		tolerated(0.08)	1,1	VAV_HUMAN	VAV1	HGNC	P15498	VAV_HUMAN					1	168	+			UPI0000138213	24			CH.		SNV	VAV1,missense_variant,p.Thr24Asn,ENST00000304076,NM_001258206.1;VAV1,missense_variant,p.Thr24Asn,ENST00000596764,NM_001258207.1;VAV1,missense_variant,p.Thr24Asn,ENST00000602142,NM_005428.3;VAV1,upstream_gene_variant,,ENST00000539284,;	uc002mfu.1	c.71C>A	153/2620	2	2			c.71C>A						19	SNP	c.(70-72)ACC>AAC	47	47			lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16	Broad	vav 1 guanine nucleotide exchange factor			6772889		0.662	ENSG00000141968	16877	g.chr19:6772889C>A	apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			494			494	45.10678	KEEP	7	15	0.681818182	26	44	7	15	0.681818182	51.048183	26	44	0.219512	1	0	0	0	0	1	0	0	0	--	--		0	A			VAV1_uc010xjh.1_Missense_Mutation_p.T24N|VAV1_uc010dva.1_Missense_Mutation_p.T24N	86	GBM-06-2563-TP	p.T24N	C	CACCGCGTGACCTGGGATGGG	NM_005428	NP_005419	6772889	P15498	VAV_HUMAN	0			1	168	+	A	A			Missense_Mutation	24			CH.			
VAV1	0	broad.mit.edu	GRCh37	19	6843162	6843162	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-12-3653-01	TCGA-12-3653-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000602142.1:c.1997T>C	p.Leu666Pro	p.L666P	ENST00000602142	NM_005428.3	666	cTg/cCg	0			1			C	L/P	uc002mfu.1	protein_coding	YES	CCDS12174.1			1997/2538									lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16	c.(1996-1998)CTG>CCG			Gene3D:3.30.505.10,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF112,Superfamily_domains:SSF55550	vav 1 guanine nucleotide exchange factor				ENSP00000472929		22/27									COSM3404763,COSM3404764	22/27	.		ENST00000602142	Transcript			apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	ENSG00000141968	g.chr19:6843162T>C	12657			MODERATE		1.84	low	getma.org/?cm=msa&ty=f&p=VAV_HUMAN&rb=623&re=700&var=L666P	getma.org/pdb.php?prot=VAV_HUMAN&from=653&to=670&var=L666P	getma.org/?cm=var&var=hg19,19,6843162,T,C&fts=all	L666P	--	--	1																																		VAV1_uc010xjh.1_Missense_Mutation_p.L634P|VAV1_uc010dva.1_Missense_Mutation_p.L644P|VAV1_uc002mfv.1_Missense_Mutation_p.L611P	1,1	1		possibly_damaging(0.745)	p.L666P	NM_005428	NP_005419		deleterious(0.01)	1,1	VAV_HUMAN	VAV1	HGNC	P15498	VAV_HUMAN					22	2094	+			UPI0000138213	666					SNV	VAV1,missense_variant,p.Leu644Pro,ENST00000304076,NM_001258206.1;VAV1,missense_variant,p.Leu634Pro,ENST00000596764,NM_001258207.1;VAV1,missense_variant,p.Leu611Pro,ENST00000599806,;VAV1,missense_variant,p.Leu666Pro,ENST00000602142,NM_005428.3;VAV1,missense_variant,p.Leu569Pro,ENST00000539284,;	uc002mfu.1	c.1997T>C	2079/2620	4	4			c.1997T>C						19	SNP	c.(1996-1998)CTG>CCG	46	46			lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16	Broad	vav 1 guanine nucleotide exchange factor			6843162		0.468	ENSG00000141968	16877	g.chr19:6843162T>C	apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			494			494	-72.11365	KEEP	2	5	-1	202	147	2	5	-1	9.205741	202	147	0.016287	1	0	0	0	0	1	0	0	0	--	--		0	C			VAV1_uc010xjh.1_Missense_Mutation_p.L634P|VAV1_uc010dva.1_Missense_Mutation_p.L644P|VAV1_uc002mfv.1_Missense_Mutation_p.L611P	128	GBM-12-3653-TP	p.L666P	T	CCTCAGGACCTGTCTGTTCAT	NM_005428	NP_005419	6843162	P15498	VAV_HUMAN	0			22	2094	+	C	C			Missense_Mutation	666						
VAV1	0	broad.mit.edu	GRCh37	19	6828653	6828653	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-2575-01	TCGA-41-2575-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000602142.1:c.1113C>T	p.Asn371=	p.N371=	ENST00000602142	NM_005428.3	371	aaC/aaT	0			1			T	N	uc002mfu.1	protein_coding	YES	CCDS12174.1			1113/2538									lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16	c.(1111-1113)AAC>AAT			Gene3D:1.20.900.10,Pfam_domain:PF00621,PROSITE_profiles:PS50010,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF112,SMART_domains:SM00325,Superfamily_domains:SSF48065	vav 1 guanine nucleotide exchange factor				ENSP00000472929		27-Dec									COSM3404760,COSM3404761	27-Dec	.		ENST00000602142	Transcript			apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	ENSG00000141968	g.chr19:6828653C>T	12657			LOW								--	--	1																																		VAV1_uc010xjh.1_Silent_p.N339N|VAV1_uc010dva.1_Silent_p.N371N|VAV1_uc002mfv.1_Silent_p.N316N	1,1	1			p.N371N	NM_005428	NP_005419			1,1	VAV_HUMAN	VAV1	HGNC	P15498	VAV_HUMAN					12	1210	+			UPI0000138213	371			DH.		SNV	VAV1,synonymous_variant,p.=,ENST00000304076,NM_001258206.1;VAV1,synonymous_variant,p.=,ENST00000596764,NM_001258207.1;VAV1,synonymous_variant,p.=,ENST00000599806,;VAV1,synonymous_variant,p.=,ENST00000602142,NM_005428.3;VAV1,synonymous_variant,p.=,ENST00000539284,;VAV1,non_coding_transcript_exon_variant,,ENST00000601452,;VAV1,non_coding_transcript_exon_variant,,ENST00000600396,;VAV1,non_coding_transcript_exon_variant,,ENST00000597967,;VAV1,downstream_gene_variant,,ENST00000594082,;	uc002mfu.1	c.1113C>T	1195/2620	1	1			c.1113C>T						19	SNP	c.(1111-1113)AAC>AAT	8	8			lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16	Broad	vav 1 guanine nucleotide exchange factor			6828653		0.637	ENSG00000141968	16877	g.chr19:6828653C>T	apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			494			494	382.463066	KEEP	88	68	-1	131	118	88	68	-1	386.05374	131	118	0.390671	1	0	0	0	0	0	0	1	0	--	--		0	T			VAV1_uc010xjh.1_Silent_p.N339N|VAV1_uc010dva.1_Silent_p.N371N|VAV1_uc002mfv.1_Silent_p.N316N	253	GBM-41-2575-TP	p.N371N	C	AGTGCGTGAACGAGGTCAAGC	NM_005428	NP_005419	6828653	P15498	VAV_HUMAN	0			12	1210	+	T	T			Silent	371			DH.			
VAV1	7409		GRCh37	19	6854017	6854017	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000602142.1:c.2392C>T	p.Arg798Ter	p.R798*	ENST00000602142	NM_005428.3	798	Cga/Tga	0																																																																																																																																																																																																																																												
VAV1	7409		GRCh37	19	6828671	6828671	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000602142.1:c.1131C>T	p.Asn377=	p.N377=	ENST00000602142	NM_005428.3	377	aaC/aaT	0																																																																																																																																																																																																																																												
VAV2	7410	broad.mit.edu	GRCh37	9	136653541	136653541	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01	TCGA-06-0174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371850.3:c.1342G>A	p.Glu448Lys	p.E448K	ENST00000371850	NM_001134398.1	448	Gag/Aag	0			1			T	E/K	uc004ces.2	protein_coding	YES	CCDS48053.1			1342/2637									central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8	c.(1342-1344)GAG>AAG			PROSITE_profiles:PS50003,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF95,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729	vav 2 guanine nucleotide exchange factor isoform				ENSP00000360916		15/30									COSM3413430,COSM3413429	15/30	.		ENST00000371850	Transcript			angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	ENSG00000160293	g.chr9:136653541C>T	12658			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=VAV2_HUMAN&rb=406&re=512&var=E448K	getma.org/pdb.php?prot=VAV2_HUMAN&from=406&to=512&var=E448K	getma.org/?cm=var&var=hg19,9,136653541,C,T&fts=all	E448K	--	--	1																																		VAV2_uc004cer.2_Missense_Mutation_p.E443K|VAV2_uc004cet.1_5'UTR	1,1	1		possibly_damaging(0.472)	p.E448K	NM_001134398	NP_001127870		deleterious(0.01)	1,1	VAV2_HUMAN	VAV2	HGNC	P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)			15	1388	-			UPI000013E06E	448			PH.		SNV	VAV2,missense_variant,p.Glu443Lys,ENST00000371851,;VAV2,missense_variant,p.Glu448Lys,ENST00000371850,NM_001134398.1;VAV2,missense_variant,p.Glu443Lys,ENST00000406606,NM_003371.3;	uc004ces.2	c.1342G>A	1374/4837	2	2			c.1342G>A						9	SNP	c.(1342-1344)GAG>AAG	26	26			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8	Broad	vav 2 guanine nucleotide exchange factor isoform			136653541		0.592	ENSG00000160293	16878	g.chr9:136653541C>T	angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity							210.992158	KEEP	36	34	-1	43	42	36	34	-1	211.047217	43	42	0.478873	1	0	0	0	0	1	0	0	0	--	--		0	T			VAV2_uc004cer.2_Missense_Mutation_p.E443K|VAV2_uc004cet.1_5'UTR	37	GBM-06-0174-TP	p.E448K	C	TCGATGATCTCCTTGAGCTCG	NM_001134398	NP_001127870	136653541	P52735	VAV2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	15	1388	-	T	T			Missense_Mutation	448			PH.			
VAV2	0	broad.mit.edu	GRCh37	9	136656960	136656960	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01	TCGA-32-4719-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371850.3:c.1133G>A	p.Arg378Gln	p.R378Q	ENST00000371850	NM_001134398.1	378	cGg/cAg	0			1			T	R/Q	uc004ces.2	protein_coding	YES	CCDS48053.1			1133/2637									central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8	c.(1132-1134)CGG>CAG			hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF95,Gene3D:1.20.900.10,Superfamily_domains:SSF48065	vav 2 guanine nucleotide exchange factor isoform				ENSP00000360916		13/30	8.24E-06					1.50E-05			rs752765700,COSM3413432,COSM3413431	13/30	.		ENST00000371850	Transcript			angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	ENSG00000160293	g.chr9:136656960C>T	12658			MODERATE		2.395	medium	getma.org/?cm=msa&ty=f&p=VAV2_HUMAN&rb=376&re=405&var=R378Q	getma.org/pdb.php?prot=VAV2_HUMAN&from=376&to=405&var=R378Q	getma.org/?cm=var&var=hg19,9,136656960,C,T&fts=all	R378Q	--	--	1																																		VAV2_uc004cer.2_Missense_Mutation_p.R373Q|VAV2_uc004cet.1_5'Flank	0,1,1	1		possibly_damaging(0.452)	p.R378Q	NM_001134398	NP_001127870		deleterious(0.02)	0,1,1	VAV2_HUMAN	VAV2	HGNC	P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)			13	1179	-			UPI000013E06E	378					SNV	VAV2,missense_variant,p.Arg373Gln,ENST00000371851,;VAV2,missense_variant,p.Arg378Gln,ENST00000371850,NM_001134398.1;VAV2,missense_variant,p.Arg373Gln,ENST00000406606,NM_003371.3;	uc004ces.2	c.1133G>A	1165/4837	1	1			c.1133G>A						9	SNP	c.(1132-1134)CGG>CAG	15	15			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8	Broad	vav 2 guanine nucleotide exchange factor isoform			136656960		0.488	ENSG00000160293	16878	g.chr9:136656960C>T	angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity							-11.881818	KEEP	7	4	-1	85	97	7	4	-1	21.132813	85	97	0.060976	1	0	0	0	0	1	0	0	0	--	--		0	T			VAV2_uc004cer.2_Missense_Mutation_p.R373Q|VAV2_uc004cet.1_5'Flank	248	GBM-32-4719-TP	p.R378Q	C	CTCCTTGTCCCGTTTAACTTC	NM_001134398	NP_001127870	136656960	P52735	VAV2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	13	1179	-	T	T			Missense_Mutation	378						
VAV3	0	broad.mit.edu	GRCh37	1	108417540	108417540	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-16-0861-01	TCGA-16-0861-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370056.4:c.304G>T	p.Val102Phe	p.V102F	ENST00000370056	NM_006113.4	102	Gtt/Ttt	0			1			A	V/F	uc001dvk.1	protein_coding	YES	CCDS785.1			304/2544									ovary(5)|lung(2)|breast(2)	9	c.(304-306)GTT>TTT			PROSITE_profiles:PS50021,hmmpanther:PTHR22826:SF97,hmmpanther:PTHR22826,Pfam_domain:PF11971,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576,Prints_domain:PR00888	vav 3 guanine nucleotide exchange factor isoform				ENSP00000359073		27-Feb									COSM3399511	27-Feb	.		ENST00000370056	Transcript			angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	ENSG00000134215	g.chr1:108417540C>A	12659			MODERATE		2.245	medium	getma.org/?cm=msa&ty=f&p=VAV3_HUMAN&rb=4&re=119&var=V102F	getma.org/pdb.php?prot=VAV3_HUMAN&from=4&to=119&var=V102F	getma.org/?cm=var&var=hg19,1,108417540,C,A&fts=all	V102F	--	--	1																																		VAV3_uc010ouw.1_Missense_Mutation_p.V102F|VAV3_uc001dvl.1_5'UTR|VAV3_uc010oux.1_Missense_Mutation_p.V102F	1	1		probably_damaging(0.961)	p.V102F	NM_006113	NP_006104		deleterious(0)	1	VAV3_HUMAN	VAV3	HGNC	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	F5GXH7_HUMAN		2	358	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	UPI0000138212	102			CH.		SNV	VAV3,missense_variant,p.Val102Phe,ENST00000370056,NM_006113.4;VAV3,missense_variant,p.Val102Phe,ENST00000527011,;VAV3,missense_variant,p.Val97Phe,ENST00000490388,;VAV3,missense_variant,p.Val37Phe,ENST00000371846,;VAV3,non_coding_transcript_exon_variant,,ENST00000469325,;VAV3,non_coding_transcript_exon_variant,,ENST00000530671,;	uc001dvk.1	c.304G>T	579/4990	2	2			c.304G>T						1	SNP	c.(304-306)GTT>TTT	45	45			ovary(5)|lung(2)|breast(2)	9	Broad	vav 3 guanine nucleotide exchange factor isoform			108417540		0.358	ENSG00000134215	16879	g.chr1:108417540C>A	angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity							104.49226	KEEP	18	21	0.538461538	28	43	18	21	0.538461538	106.593359	28	43	0.346535	1	0	0	0	0	1	0	0	0	--	--		0	A			VAV3_uc010ouw.1_Missense_Mutation_p.V102F|VAV3_uc001dvl.1_5'UTR|VAV3_uc010oux.1_Missense_Mutation_p.V102F	156	GBM-16-0861-TP	p.V102F	C	AAGTCACGAACATCAAACAAG	NM_006113	NP_006104	108417540	Q9UKW4	VAV3_HUMAN	0		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	2	358	-	A	A		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	Missense_Mutation	102			CH.			
VAX2	0	broad.mit.edu	GRCh37	2	71160172	71160172	+	synonymous_variant	Silent	SNP	G	G	A	rs144443163	byFrequency	TCGA-26-1439-01	TCGA-26-1439-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000234392.2:c.711G>A	p.Ala237=	p.A237=	ENST00000234392	NM_012476.2	237	gcG/gcA	0	A:0.0023	A:0.0015	1	A:0		A	A	uc002shh.2	protein_coding	YES	CCDS1911.1			711/873										0	c.(709-711)GCG>GCA			Low_complexity_(Seg):seg,hmmpanther:PTHR24339,hmmpanther:PTHR24339:SF23	ventral anterior homeobox 2		A:0	A:0	ENSP00000234392	A:0	3-Mar	0.000214	0.00202	0.000175	0.00035					rs144443163,COSM2156850	3-Mar	common_variant		ENST00000234392	Transcript		A:0.0004	ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000116035	g.chr2:71160172G>A	12661			LOW								--	--	1																																		ATP6V1B1_uc002shi.1_5'Flank|ATP6V1B1_uc002shj.2_5'Flank|ATP6V1B1_uc010fdv.2_5'Flank|ATP6V1B1_uc010fdw.2_5'Flank	0,1	1			p.A237A	NM_012476	NP_036608	A:0		0,1	VAX2_HUMAN	VAX2	HGNC	Q9UIW0	VAX2_HUMAN			F1T0K5_HUMAN		3	743	+			UPI0000138215	237					SNV	VAX2,synonymous_variant,p.=,ENST00000234392,NM_012476.2;ATP6V1B1,upstream_gene_variant,,ENST00000234396,NM_001692.3;ATP6V1B1,upstream_gene_variant,,ENST00000412314,;snoU13,upstream_gene_variant,,ENST00000459218,;ATP6V1B1,upstream_gene_variant,,ENST00000432367,;	uc002shh.2	c.711G>A	743/1147	2	2			c.711G>A						2	SNP	c.(709-711)GCG>GCA	25	25				0	Broad	ventral anterior homeobox 2			71160172		0.692	ENSG00000116035	16881	g.chr2:71160172G>A	ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							25.368416	KEEP	6	8	-1	18	29	6	8	-1	29.397108	18	29	0.218182	1	0	0	0	0	0	0	1	0	--	--		0	A			ATP6V1B1_uc002shi.1_5'Flank|ATP6V1B1_uc002shj.2_5'Flank|ATP6V1B1_uc010fdv.2_5'Flank|ATP6V1B1_uc010fdw.2_5'Flank	179	GBM-26-1439-TP	p.A237A	G	CGGCCTCAGCGTCCCCCCCAC	NM_012476	NP_036608	71160172	Q9UIW0	VAX2_HUMAN	0			3	743	+	A	A			Silent	237						
VCAM1	7412	broad.mit.edu	GRCh37	1	101197065	101197066	+	frameshift_variant	Frame_Shift_Del	DEL	TA	TA	-			TCGA-06-0124-01	TCGA-06-0124-01	TA	TA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294728.2:c.1517_1518del	p.Tyr506CysfsTer46	p.Y506Cfs*46	ENST00000294728	NM_001078.3	506	TAt/t	0			1			-	Y/X	uc001dti.2	protein_coding	YES	CCDS773.1			1516-1517/2220									central_nervous_system(1)	1	c.(1516-1518)TATfs			Gene3D:2.60.40.10,Pfam_domain:PF05790,hmmpanther:PTHR10489,Superfamily_domains:SSF48726	vascular cell adhesion molecule 1 isoform a	Carvedilol(DB01136)			ENSP00000294728		9-Jun									COSM2149294	9-Jun	.		ENST00000294728	Transcript			heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	ENSG00000162692	g.chr1:101197065_101197066delTA	12663	1		HIGH								--	--	1																																		VCAM1_uc001dtj.2_Frame_Shift_Del_p.Y414fs|VCAM1_uc010ouj.1_Frame_Shift_Del_p.Y444fs	1	1			p.Y506fs	NM_001078	NP_001069			1	VCAM1_HUMAN	VCAM1	HGNC	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Q68DC4_HUMAN,G0ZI12_HUMAN,G0ZFQ0_HUMAN,F8UV74_HUMAN,F8UU18_HUMAN,F2YYR6_HUMAN		6	1636_1637	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	UPI0000000E06	506			Ig-like C2-type 5.|Extracellular (Potential).		deletion	VCAM1,frameshift_variant,p.Tyr506CysfsTer46,ENST00000294728,NM_001078.3;VCAM1,frameshift_variant,p.Tyr414CysfsTer46,ENST00000347652,NM_080682.2;VCAM1,frameshift_variant,p.Tyr444CysfsTer46,ENST00000370119,NM_001199834.1;VCAM1,intron_variant,,ENST00000370115,;VCAM1,upstream_gene_variant,,ENST00000603679,;	uc001dti.2	c.1516_1517delTA	1617-1618/3083	5	5			c.1516_1517delTA						1	DEL	c.(1516-1518)TATfs	8	8			central_nervous_system(1)	1	Broad	vascular cell adhesion molecule 1 isoform a		Carvedilol(DB01136)	101197066		0.366	ENSG00000162692	16883	g.chr1:101197065_101197066delTA	heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding																				0.26	1	1	0	1	0	0	0	0	0	--	--		0	-			VCAM1_uc001dtj.2_Frame_Shift_Del_p.Y414fs|VCAM1_uc010ouj.1_Frame_Shift_Del_p.Y444fs	11	GBM-06-0124-TP	p.Y506fs	TA	GCAAACACTTTATGTCAATGGT	NM_001078	NP_001069	101197065	P19320	VCAM1_HUMAN	0		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	6	1636_1637	+	-	-		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	Frame_Shift_Del	506			Ig-like C2-type 5.|Extracellular (Potential).			
VCAN	1462	broad.mit.edu	GRCh37	5	82808046	82808046	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0124-01	TCGA-06-0124-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265077.3:c.873T>A	p.Phe291Leu	p.F291L	ENST00000265077	NM_004385.4	291	ttT/ttA	0			1			A	F/L	uc003kii.3	protein_coding	YES	CCDS4060.1			873/10191									ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16	c.(871-873)TTT>TTA			Superfamily_domains:SSF56436,SMART_domains:SM00445,Pfam_domain:PF00193,Gene3D:3.10.100.10,PROSITE_patterns:PS01241,hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804,PROSITE_profiles:PS50963	versican isoform 1 precursor				ENSP00000265077		15-Jun									COSM2149270	15-Jun	.		ENST00000265077	Transcript	1		cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	ENSG00000038427	g.chr5:82808046T>A	2464			MODERATE		-0.1	neutral	getma.org/?cm=msa&ty=f&p=CSPG2_HUMAN&rb=250&re=346&var=F291L	getma.org/pdb.php?prot=CSPG2_HUMAN&from=250&to=346&var=F291L	getma.org/?cm=var&var=hg19,5,82808046,T,A&fts=all	F291L	--	--	1																																		VCAN_uc003kij.3_Missense_Mutation_p.F291L|VCAN_uc010jau.2_Missense_Mutation_p.F291L|VCAN_uc003kik.3_Missense_Mutation_p.F291L|VCAN_uc003kih.3_Missense_Mutation_p.F291L	1	1		possibly_damaging(0.824)	p.F291L	NM_004385	NP_004376		tolerated(0.06)	1	CSPG2_HUMAN	VCAN	HGNC	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)			6	1229	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	UPI000013178B	291			Link 2.		SNV	VCAN,missense_variant,p.Phe291Leu,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Phe291Leu,ENST00000343200,NM_001126336.2,NM_001164097.1;VCAN,missense_variant,p.Phe291Leu,ENST00000342785,NM_001164098.1;VCAN,missense_variant,p.Phe243Leu,ENST00000512590,;VCAN,missense_variant,p.Phe291Leu,ENST00000513960,;VCAN,missense_variant,p.Phe291Leu,ENST00000502527,;VCAN,missense_variant,p.Phe291Leu,ENST00000513984,;VCAN,non_coding_transcript_exon_variant,,ENST00000515397,;	uc003kii.3	c.873T>A	1438/12625	2	2			c.873T>A						5	SNP	c.(871-873)TTT>TTA	20	20			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16	Broad	versican isoform 1 precursor			82808046		0.602	ENSG00000038427	16884	g.chr5:82808046T>A	cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding							63.431815	KEEP	18	8	-1	27	21	18	8	-1	64.811392	27	21	0.34375	1	0	0	0	0	1	0	0	0	--	--		0	A			VCAN_uc003kij.3_Missense_Mutation_p.F291L|VCAN_uc010jau.2_Missense_Mutation_p.F291L|VCAN_uc003kik.3_Missense_Mutation_p.F291L|VCAN_uc003kih.3_Missense_Mutation_p.F291L	11	GBM-06-0124-TP	p.F291L	T	GGAACGGCTTTGACCAGTGCG	NM_004385	NP_004376	82808046	P13611	CSPG2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	6	1229	+	A	A		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	Missense_Mutation	291			Link 2.			
VCAN	0	broad.mit.edu	GRCh37	5	82815367	82815367	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-12-0615-01	TCGA-12-0615-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265077.3:c.1242T>C	p.Ala414=	p.A414=	ENST00000265077	NM_004385.4	414	gcT/gcC	0			1			C	A	uc003kii.3	protein_coding	YES	CCDS4060.1			1242/10191									ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16	c.(1240-1242)GCT>GCC			hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804	versican isoform 1 precursor				ENSP00000265077		15-Jul									COSM3410452	15-Jul	.		ENST00000265077	Transcript	1		cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	ENSG00000038427	g.chr5:82815367T>C	2464			LOW								--	--	1																																		VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.A414A|VCAN_uc003kik.3_Intron	1	1			p.A414A	NM_004385	NP_004376			1	CSPG2_HUMAN	VCAN	HGNC	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)			7	1598	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	UPI000013178B	414			GAG-alpha (glucosaminoglycan attachment domain).		SNV	VCAN,synonymous_variant,p.=,ENST00000265077,NM_004385.4;VCAN,synonymous_variant,p.=,ENST00000342785,NM_001164098.1;VCAN,synonymous_variant,p.=,ENST00000512590,;VCAN,intron_variant,,ENST00000343200,NM_001126336.2,NM_001164097.1;VCAN,intron_variant,,ENST00000513960,;VCAN,intron_variant,,ENST00000502527,;VCAN,intron_variant,,ENST00000515397,;	uc003kii.3	c.1242T>C	1807/12625	3	3			c.1242T>C						5	SNP	c.(1240-1242)GCT>GCC	1	1			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16	Broad	versican isoform 1 precursor			82815367		0.463	ENSG00000038427	16884	g.chr5:82815367T>C	cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding							-26.289874	KEEP	2	1	-1	70	68	2	1	-1	7.215153	70	68	0.022727	1	0	0	0	0	0	0	1	0	--	--		0	C			VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.A414A|VCAN_uc003kik.3_Intron	117	GBM-12-0615-TP	p.A414A	T	AACCTCAGGCTATCACAGATA	NM_004385	NP_004376	82815367	P13611	CSPG2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	1598	+	C	C		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	Silent	414			GAG-alpha (glucosaminoglycan attachment domain).			
VCAN	0	broad.mit.edu	GRCh37	5	82849273	82849273	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs145625752		TCGA-14-0787-01	TCGA-14-0787-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265077.3:c.9584G>A	p.Arg3195Gln	p.R3195Q	ENST00000265077	NM_004385.4	3195	cGg/cAg	0	A:0.0002		1			A	R/Q	uc003kii.3	protein_coding	YES	CCDS4060.1			9584/10191									ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16	c.(9583-9585)CGG>CAG			Superfamily_domains:SSF56436,SMART_domains:SM00034,Pfam_domain:PF00059,Gene3D:3.10.100.10,hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804,PROSITE_profiles:PS50041	versican isoform 1 precursor			A:0	ENSP00000265077		15-Nov	8.24E-06	9.61E-05							rs145625752,COSM3139778	15-Nov	.		ENST00000265077	Transcript	1		cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	ENSG00000038427	g.chr5:82849273G>A	2464			MODERATE		0.02	neutral	getma.org/?cm=msa&ty=f&p=CSPG2_HUMAN&rb=3186&re=3291&var=R3195Q	getma.org/pdb.php?prot=CSPG2_HUMAN&from=3186&to=3291&var=R3195Q	getma.org/?cm=var&var=hg19,5,82849273,G,A&fts=all	R3195Q	--	--	1																																		VCAN_uc003kij.3_Missense_Mutation_p.R2208Q|VCAN_uc010jau.2_Missense_Mutation_p.R1441Q|VCAN_uc003kik.3_Missense_Mutation_p.R454Q|VCAN_uc003kil.3_Missense_Mutation_p.R1859Q	0,1	1		possibly_damaging(0.573)	p.R3195Q	NM_004385	NP_004376		deleterious(0)	0,1	CSPG2_HUMAN	VCAN	HGNC	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)			11	9940	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	UPI000013178B	3195			C-type lectin.		SNV	VCAN,missense_variant,p.Arg3195Gln,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Arg2208Gln,ENST00000343200,NM_001126336.2,NM_001164097.1;VCAN,missense_variant,p.Arg1441Gln,ENST00000342785,NM_001164098.1;VCAN,missense_variant,p.Arg1393Gln,ENST00000512590,;VCAN,missense_variant,p.Arg454Gln,ENST00000502527,;VCAN-AS1,intron_variant,,ENST00000513899,;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,non_coding_transcript_exon_variant,,ENST00000507162,;VCAN,non_coding_transcript_exon_variant,,ENST00000505615,;	uc003kii.3	c.9584G>A	10149/12625	2	2			c.9584G>A						5	SNP	c.(9583-9585)CGG>CAG	35	35			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16	Broad	versican isoform 1 precursor			82849273		0.473	ENSG00000038427	16884	g.chr5:82849273G>A	cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding							42.745992	KEEP	22	14	-1	130	139	22	14	-1	81.710535	130	139	0.115672	1	0	0	0	0	1	0	0	0	--	--		0	A			VCAN_uc003kij.3_Missense_Mutation_p.R2208Q|VCAN_uc010jau.2_Missense_Mutation_p.R1441Q|VCAN_uc003kik.3_Missense_Mutation_p.R454Q|VCAN_uc003kil.3_Missense_Mutation_p.R1859Q	135	GBM-14-0787-TP	p.R3195Q	G	GCAGCTGAACGGGAATGCCGT	NM_004385	NP_004376	82849273	P13611	CSPG2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	11	9940	+	A	A		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	Missense_Mutation	3195			C-type lectin.			
VCAN	1462		GRCh37	5	82816676	82816676	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000265077.3:c.2551G>A	p.Ala851Thr	p.A851T	ENST00000265077	NM_004385.4	851	Gca/Aca	0																																																																																																																																																																																																																																												
VCL	0	broad.mit.edu	GRCh37	10	75849002	75849002	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-32-1977-01	TCGA-32-1977-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000211998.4:c.1071T>C	p.Ser357=	p.S357=	ENST00000211998	NM_014000.2	357	tcT/tcC	0			1			C	S	uc001jwd.2	protein_coding	YES	CCDS7341.1			1071/3405							VCL/ALK(4)		kidney(4)|ovary(1)|central_nervous_system(1)	6	c.(1069-1071)TCT>TCC			hmmpanther:PTHR18914:SF22,hmmpanther:PTHR18914,Pfam_domain:PF01044,Superfamily_domains:SSF47220	vinculin isoform meta-VCL				ENSP00000211998		22-Sep									COSM3397249	22-Sep	.		ENST00000211998	Transcript	1		adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity	ENSG00000035403	g.chr10:75849002T>C	12665			LOW								--	--	1																																		VCL_uc009xrr.2_Silent_p.S106S|VCL_uc010qky.1_Silent_p.S264S|VCL_uc001jwe.2_Silent_p.S357S|VCL_uc010qkz.1_Intron	1	1			p.S357S	NM_014000	NP_054706			1	VINC_HUMAN	VCL	HGNC	P18206	VINC_HUMAN			Q5JQ13_HUMAN		9	1165	+	Prostate(51;0.0112)		UPI0000167B54	357			1.|N-terminal globular head.|3 X 112 AA tandem repeats.		SNV	VCL,synonymous_variant,p.=,ENST00000211998,NM_014000.2;VCL,synonymous_variant,p.=,ENST00000372755,NM_003373.3;VCL,synonymous_variant,p.=,ENST00000436396,;VCL,intron_variant,,ENST00000417648,;VCL,intron_variant,,ENST00000478896,;	uc001jwd.2	c.1071T>C	1165/5482	3	3			c.1071T>C						10	SNP	c.(1069-1071)TCT>TCC	1	1	VCL/ALK(4)		kidney(4)|ovary(1)|central_nervous_system(1)	6	Broad	vinculin isoform meta-VCL			75849002		0.488	ENSG00000035403	16885	g.chr10:75849002T>C	adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity							-4.491417	KEEP	2	0	-1	26	23	2	0	-1	6.344068	26	23	0.041667	1	0	0	0	0	0	0	1	0	--	--		0	C			VCL_uc009xrr.2_Silent_p.S106S|VCL_uc010qky.1_Silent_p.S264S|VCL_uc001jwe.2_Silent_p.S357S|VCL_uc010qkz.1_Intron	229	GBM-32-1977-TP	p.S357S	T	AGCAGGTATCTCAGGGTCTGG	NM_014000	NP_054706	75849002	P18206	VINC_HUMAN	0			9	1165	+	C	C	Prostate(51;0.0112)		Silent	357			1.|N-terminal globular head.|3 X 112 AA tandem repeats.			
VCP	7415	broad.mit.edu	GRCh37	9	35059646	35059647	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0124-01	TCGA-06-0124-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358901.6:c.1847dup	p.Asn616LysfsTer12	p.N616Kfs*12	ENST00000358901	NM_007126.3	616	aat/aaAt	0			1			T	N/KX	uc003zvy.2	protein_coding	YES	CCDS6573.1			1847-1848/2421									upper_aerodigestive_tract(1)	1	c.(1846-1848)AATfs			Gene3D:3.40.50.300,Pfam_domain:PF00004,hmmpanther:PTHR23077,hmmpanther:PTHR23077:SF69,SMART_domains:SM00382,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR01243	valosin-containing protein				ENSP00000351777		14/17									rs751290466	14/17	.		ENST00000358901	Transcript	1		activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	ENSG00000165280	g.chr9:35059646_35059647insT	12666			HIGH								--	--	1																																		VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_Frame_Shift_Ins_p.N285fs|VCP_uc010mki.1_Frame_Shift_Ins_p.N571fs		1			p.N616fs	NM_007126	NP_009057				TERA_HUMAN	VCP	HGNC	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		Q9NTC4_HUMAN,Q96IF9_HUMAN,Q0IIN5_HUMAN,C9JUP7_HUMAN,C9IZA5_HUMAN		14	2236_2237	-			UPI000005FB2E	616					insertion	VCP,frameshift_variant,p.Asn616LysfsTer12,ENST00000358901,NM_007126.3;VCP,downstream_gene_variant,,ENST00000448530,;VCP,non_coding_transcript_exon_variant,,ENST00000493886,;VCP,non_coding_transcript_exon_variant,,ENST00000479300,;VCP,downstream_gene_variant,,ENST00000480327,;VCP,upstream_gene_variant,,ENST00000466100,;	uc003zvy.2	c.1847_1848insA	2743-2744/4370	5	5			c.1847_1848insA						9	INS	c.(1846-1848)AATfs	6	6			upper_aerodigestive_tract(1)	1	Broad	valosin-containing protein			35059647		0.515	ENSG00000165280	16886	g.chr9:35059646_35059647insT	activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding																				0.07	1	0	0	1	1	0	0	0	0	--	--		0	T			VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_Frame_Shift_Ins_p.N285fs|VCP_uc010mki.1_Frame_Shift_Ins_p.N571fs	11	GBM-06-0124-TP	p.N616fs	-	TGATGAACACATTTTTTTTTGT	NM_007126	NP_009057	35059646	P55072	TERA_HUMAN	0	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		14	2236_2237	-	T	T			Frame_Shift_Ins	616						
VCPIP1	0	broad.mit.edu	GRCh37	8	67546807	67546807	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-12-0615-01	TCGA-12-0615-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310421.4:c.3598G>T	p.Glu1200Ter	p.E1200*	ENST00000310421	NM_025054.4	1200	Gag/Tag	0			1			A	E/*	uc003xwn.2	protein_coding	YES	CCDS6192.1			3598/3669									lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8	c.(3598-3600)GAG>TAG			hmmpanther:PTHR14843,hmmpanther:PTHR14843:SF1	valosin containing protein (p97)/p47 complex				ENSP00000309031		3-Mar									COSM2153480	3-Mar	.		ENST00000310421	Transcript			protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	ENSG00000175073	g.chr8:67546807C>A	30897			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,8,67546807,C,A&fts=all	E1200*	--	--	1																																			1	1			p.E1200*	NM_025054	NP_079330			1	VCIP1_HUMAN	VCPIP1	HGNC	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)				3	3857	-		Lung NSC(129;0.142)|all_lung(136;0.227)	UPI00001D3EF3	1200					SNV	VCPIP1,stop_gained,p.Glu1200Ter,ENST00000310421,NM_025054.4;	uc003xwn.2	c.3598G>T	3857/9942	5	1			c.3598G>T						8	SNP	c.(3598-3600)GAG>TAG	54	54			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8	Broad	valosin containing protein (p97)/p47 complex			67546807		0.428	ENSG00000175073	16887	g.chr8:67546807C>A	protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	NSCLC(179;265 2915 6144 43644)		91	NSCLC(179;265 2915 6144 43644)		91	327.280571	KEEP	58	59	0.504273504	82	80	58	59	0.504273504	328.212347	82	80	0.435294	1	0	0	0	0	0	1	0	0	--	--		0	A				117	GBM-12-0615-TP	p.E1200*	C	TCAAGCTCCTCCACGGAATTT	NM_025054	NP_079330	67546807	Q96JH7	VCIP1_HUMAN	0	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		3	3857	-	A	A		Lung NSC(129;0.142)|all_lung(136;0.227)	Nonsense_Mutation	1200						
VCX2	51480	broad.mit.edu	GRCh37	X	8138151	8138151	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-1804-01	TCGA-06-1804-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317103.4:c.342G>A	p.Leu114=	p.L114=	ENST00000317103	NM_016378.2	114	ctG/ctA	0	T:0.0005		1			T	L	uc004csb.2	protein_coding	YES	CCDS35200.1			342/420										0	c.(340-342)CTG>CTA			Low_complexity_(Seg):seg,hmmpanther:PTHR15251,hmmpanther:PTHR15251:SF0,Pfam_domain:PF15231	variable charge, X-linked 2			T:0	ENSP00000321309		3-Mar									rs202165418,COSM3406622	3-Mar	.		ENST00000317103	Transcript						ENSG00000177504	g.chrX:8138151C>T	18158			LOW								--	--	1																																			0,1	1			p.L114L	NM_016378	NP_057462			0,1	VCX2_HUMAN	VCX2	HGNC	Q9H322	VCX2_HUMAN					3	649	-		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	UPI00001AF181	114			2.|2 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.		SNV	VCX2,synonymous_variant,p.=,ENST00000317103,NM_016378.2;	uc004csb.2	c.342G>A	649/811	2	2			c.342G>A						23	SNP	c.(340-342)CTG>CTA	47	47				0	Broad	variable charge, X-linked 2			8138151		0.642	ENSG00000177504	16889	g.chrX:8138151C>T										-29.137581	KEEP	5	3	-1	123	89	5	3	-1	12.769879	123	89	0.038462	1	0	0	0	0	0	0	1	0	--	--		0	T				79	GBM-06-1804-TP	p.L114L	C	TCTCCTGACTCAGTGGTTCTT	NM_016378	NP_057462	8138151	Q9H322	VCX2_HUMAN	0			3	649	-	T	T		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	Silent	114			2.|2 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.			
VCX3B	425054	broad.mit.edu	GRCh37	X	8433593	8433593	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-5412-01	TCGA-06-5412-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381032.1:c.102G>C	p.Lys34Asn	p.K34N	ENST00000381032	NM_001001888.3	34	aaG/aaC	0			1			C	K/N	uc010ndo.2	protein_coding	YES	CCDS48077.2			102/741										0	c.(100-102)AAG>AAC			Low_complexity_(Seg):seg,hmmpanther:PTHR15251,hmmpanther:PTHR15251:SF0,Pfam_domain:PF15231	variable charge, X-linked 3B				ENSP00000370420		3-Feb									COSM3406632,COSM3406633	3-Feb	.		ENST00000381032	Transcript				nucleolus		ENSG00000205642	g.chrX:8433593G>C	31838			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=Q3SXR8_HUMAN&rb=1&re=123&var=K34N	NA	getma.org/?cm=var&var=hg19,X,8433593,G,C&fts=all	K34N	--	--	1																																		VCX3B_uc011mht.1_Missense_Mutation_p.K34N|VCX3B_uc004csd.1_Missense_Mutation_p.K34N	1,1	1		unknown(0)	p.K34N	NM_001001888	NP_001001888		tolerated_low_confidence(0.15)	1,1		VCX3B	HGNC	Q9H321	VCX3B_HUMAN			C9JS46_HUMAN		2	409	+			UPI000057A469	34					SNV	VCX3B,missense_variant,p.Lys34Asn,ENST00000381032,NM_001001888.3;VCX3B,missense_variant,p.Lys34Asn,ENST00000453306,;VCX3B,missense_variant,p.Lys34Asn,ENST00000444481,;VCX3B,missense_variant,p.Lys34Asn,ENST00000440654,;VCX3B,missense_variant,p.Lys34Asn,ENST00000381029,;	uc010ndo.2	c.102G>C	409/1171	4	4			c.102G>C						23	SNP	c.(100-102)AAG>AAC	45	45				0	Broad	variable charge, X-linked 3B			8433593		0.632	ENSG00000205642	16891	g.chrX:8433593G>C		nucleolus								6.461379	KEEP	8	10	-1	157	169	8	10	-1	32.08435	157	169	0.1	1	0	0	0	0	1	0	0	0	--	--		0	C			VCX3B_uc011mht.1_Missense_Mutation_p.K34N|VCX3B_uc004csd.1_Missense_Mutation_p.K34N	95	GBM-06-5412-TP	p.K34N	G	CGAAGAAGAAGGTGAGTGACC	NM_001001888	NP_001001888	8433593	Q9H321	VCX3B_HUMAN	0			2	409	+	C	C			Missense_Mutation	34						
VCX3B	0	broad.mit.edu	GRCh37	X	8433516	8433516	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000381032.1:c.25G>T	p.Gly9Ter	p.G9*	ENST00000381032	NM_001001888.3	9	Gga/Tga	0			1			T	G/*	uc010ndo.2	protein_coding	YES	CCDS48077.2			25/741										0	c.(25-27)GGA>TGA			hmmpanther:PTHR15251,hmmpanther:PTHR15251:SF0,Pfam_domain:PF15231	variable charge, X-linked 3B				ENSP00000370420		3-Feb									COSM3406630,COSM3406631	3-Feb	.		ENST00000381032	Transcript				nucleolus		ENSG00000205642	g.chrX:8433516G>T	31838			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,X,8433516,G,T&fts=all	G9*	--	--	1																																		VCX3B_uc011mht.1_Nonsense_Mutation_p.G9*|VCX3B_uc004csd.1_Nonsense_Mutation_p.G9*	1,1	1			p.G9*	NM_001001888	NP_001001888			1,1		VCX3B	HGNC	Q9H321	VCX3B_HUMAN			C9JS46_HUMAN		2	332	+			UPI000057A469	9					SNV	VCX3B,stop_gained,p.Gly9Ter,ENST00000381032,NM_001001888.3;VCX3B,stop_gained,p.Gly9Ter,ENST00000453306,;VCX3B,stop_gained,p.Gly9Ter,ENST00000444481,;VCX3B,stop_gained,p.Gly9Ter,ENST00000440654,;VCX3B,stop_gained,p.Gly9Ter,ENST00000381029,;	uc010ndo.2	c.25G>T	332/1171	5	2			c.25G>T						23	SNP	c.(25-27)GGA>TGA	26	26				0	Broad	variable charge, X-linked 3B			8433516		0.607	ENSG00000205642	16891	g.chrX:8433516G>T		nucleolus								95.019968	KEEP	25	21	0.543478261	65	61	25	21	0.543478261	96.820522	65	61	0.354167	1	0	0	0	0	0	1	0	0	--	--		0	T			VCX3B_uc011mht.1_Nonsense_Mutation_p.G9*|VCX3B_uc004csd.1_Nonsense_Mutation_p.G9*	160	GBM-19-1790-TP	p.G9*	G	GAGAGCCTCGGGACCTCCGGC	NM_001001888	NP_001001888	8433516	Q9H321	VCX3B_HUMAN	0			2	332	+	T	T			Nonsense_Mutation	9						
VDAC1	0	broad.mit.edu	GRCh37	5	133326760	133326760	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2499-01	TCGA-28-2499-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265333.3:c.203G>A	p.Gly68Asp	p.G68D	ENST00000265333	NM_003374.2	68	gGc/gAc	0			1			T	G/D	uc003kyp.1	protein_coding	YES	CCDS4168.1			203/852										0	c.(202-204)GGC>GAC			hmmpanther:PTHR11743:SF13,hmmpanther:PTHR11743,Pfam_domain:PF01459,Gene3D:2.40.160.10,Prints_domain:PR00185	voltage-dependent anion channel 1	Dihydroxyaluminium(DB01375)			ENSP00000265333		9-Apr									COSM3409735	9-Apr	.		ENST00000265333	Transcript			apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity	ENSG00000213585	g.chr5:133326760C>T	12669			MODERATE		3.28	medium	getma.org/?cm=msa&ty=f&p=VDAC1_HUMAN&rb=3&re=276&var=G68D	getma.org/pdb.php?prot=VDAC1_HUMAN&from=3&to=276&var=G68D	getma.org/?cm=var&var=hg19,5,133326760,C,T&fts=all	G68D	--	--	1																																		VDAC1_uc003kyq.1_Missense_Mutation_p.G68D|VDAC1_uc003kyr.1_Missense_Mutation_p.G68D	1	1		probably_damaging(0.986)	p.G68D	NM_003374	NP_003365		deleterious(0)	1	VDAC1_HUMAN	VDAC1	HGNC	P21796	VDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		C9JI87_HUMAN		4	302	-			UPI000004C7D8	68					SNV	VDAC1,missense_variant,p.Gly68Asp,ENST00000265333,NM_003374.2;VDAC1,missense_variant,p.Gly68Asp,ENST00000395047,;VDAC1,missense_variant,p.Gly68Asp,ENST00000395044,;VDAC1,missense_variant,p.Gly68Asp,ENST00000425992,;VDAC1,non_coding_transcript_exon_variant,,ENST00000466080,;	uc003kyp.1	c.203G>A	448/1953	2	2			c.203G>A						5	SNP	c.(202-204)GGC>GAC	24	24				0	Broad	voltage-dependent anion channel 1		Dihydroxyaluminium(DB01375)	133326760		0.463	ENSG00000213585	16892	g.chr5:133326760C>T	apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity	NSCLC(127;1776 1806 35523 41489 48154)		247	NSCLC(127;1776 1806 35523 41489 48154)		247	-74.205553	KEEP	3	3	-1	174	156	3	3	-1	9.053591	174	156	0.01875	1	0	0	0	0	1	0	0	0	--	--		0	T			VDAC1_uc003kyq.1_Missense_Mutation_p.G68D|VDAC1_uc003kyr.1_Missense_Mutation_p.G68D	208	GBM-28-2499-TP	p.G68D	C	AAACGTCAGGCCGTACTCAGT	NM_003374	NP_003365	133326760	P21796	VDAC1_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		4	302	-	T	T			Missense_Mutation	68						
VEGFA	0	broad.mit.edu	GRCh37	6	43748479	43748479	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	rs45533131		TCGA-14-0789-01	TCGA-14-0789-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000523873.1:c.433C>T	p.Arg145Ter	p.R145*	ENST00000523873		145	Cga/Tga	0			1			T	R/*	uc003owh.2	protein_coding		CCDS55010.1			433/699									ovary(1)|breast(1)	2	c.(973-975)CGA>TGA			Low_complexity_(Seg):seg,hmmpanther:PTHR12025,hmmpanther:PTHR12025:SF5	vascular endothelial growth factor A isoform a	Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)			ENSP00000430479		8-Jun	8.24E-06					1.50E-05			rs45533131,COSM248279	8-Jun	.		ENST00000523873	Transcript	1		basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding	ENSG00000112715	g.chr6:43748479C>T	12680			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,6,43748479,C,T&fts=all	R145*	--	--	1																																		VEGFA_uc003owd.2_Intron|VEGFA_uc003owf.2_Nonsense_Mutation_p.R325*|VEGFA_uc003owe.2_Intron|VEGFA_uc003owg.2_Nonsense_Mutation_p.R325*|VEGFA_uc003owi.2_Intron|VEGFA_uc003owj.2_Intron|VEGFA_uc010jyx.2_Intron|VEGFA_uc003owk.2_Intron	0,1				p.R325*	NM_001025366	NP_001020537			0,1	VEGFA_HUMAN	VEGFA	HGNC	P15692	VEGFA_HUMAN	all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Q9UNS8_HUMAN		6	1464	+	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		UPI0000030866	145					SNV	VEGFA,stop_gained,p.Arg325Ter,ENST00000425836,;VEGFA,stop_gained,p.Arg325Ter,ENST00000372055,;VEGFA,stop_gained,p.Arg145Ter,ENST00000520948,;VEGFA,stop_gained,p.Arg325Ter,ENST00000413642,;VEGFA,stop_gained,p.Arg297Ter,ENST00000519767,;VEGFA,stop_gained,p.Arg145Ter,ENST00000523873,;VEGFA,stop_gained,p.Arg145Ter,ENST00000518689,;VEGFA,intron_variant,,ENST00000372067,NM_001025367.2,NM_001025369.2,NM_001171625.1,NM_001171629.1,NM_001171626.1,NM_001025368.2,NM_001025366.2,NM_001171623.1,NM_001171624.1,NM_001033756.2,NM_001171627.1,NM_003376.5;VEGFA,intron_variant,,ENST00000372064,NM_001025370.2,NM_001171628.1;VEGFA,intron_variant,,ENST00000372077,;VEGFA,intron_variant,,ENST00000482630,;VEGFA,intron_variant,,ENST00000417285,;VEGFA,intron_variant,,ENST00000230480,NM_001287044.1;VEGFA,intron_variant,,ENST00000324450,NM_001171622.1;VEGFA,intron_variant,,ENST00000523950,;VEGFA,intron_variant,,ENST00000518824,;VEGFA,intron_variant,,ENST00000523125,;VEGFA,intron_variant,,ENST00000457104,NM_001171630.1;VEGFA,intron_variant,,ENST00000520265,;VEGFA,non_coding_transcript_exon_variant,,ENST00000480614,;VEGFA,intron_variant,,ENST00000497139,;VEGFA,intron_variant,,ENST00000493786,;VEGFA,downstream_gene_variant,,ENST00000476772,;VEGFA,downstream_gene_variant,,ENST00000518538,;VEGFA,downstream_gene_variant,,ENST00000512683,;	uc003owh.2	c.973C>T	471/784	5	1			c.973C>T						6	SNP	c.(973-975)CGA>TGA	13	13			ovary(1)|breast(1)	2	Broad	vascular endothelial growth factor A isoform a		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	43748479		0.532	ENSG00000112715	16896	g.chr6:43748479C>T	basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			359			359	105.442769	KEEP	26	20	-1	79	66	26	20	-1	116.281954	79	66	0.241573	1	0	0	0	0	0	1	0	0	--	--		0	T			VEGFA_uc003owd.2_Intron|VEGFA_uc003owf.2_Nonsense_Mutation_p.R325*|VEGFA_uc003owe.2_Intron|VEGFA_uc003owg.2_Nonsense_Mutation_p.R325*|VEGFA_uc003owi.2_Intron|VEGFA_uc003owj.2_Intron|VEGFA_uc010jyx.2_Intron|VEGFA_uc003owk.2_Intron	136	GBM-14-0789-TP	p.R325*	C	AAAATCAGTTCGAGGAAAGGG	NM_001025366	NP_001020537	43748479	P15692	VEGFA_HUMAN	0	all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		6	1464	+	T	T	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		Nonsense_Mutation	145						
VEGFA	7422	broad.mit.edu	GRCh37	6	43752359	43752359	+	downstream_gene_variant	3'Flank	SNP	A	A	T			TCGA-06-5408-01	TCGA-06-5408-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.				ENST00000523873				0			1			T		uc003owi.2	protein_coding		CCDS55010.1			-/699									ovary(1)|breast(1)	2	c.(1108-1110)AAA>AAT	13			vascular endothelial growth factor A isoform g	Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)			ENSP00000430479											COSM3411133		.		ENST00000523873	Transcript	1		basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding	ENSG00000112715	g.chr6:43752359A>T	12680			MODIFIER		0	neutral	getma.org/?cm=msa&ty=f&p=H0Y8N2_HUMAN&rb=201&re=371&var=K370N	NA	getma.org/?cm=var&var=hg19,6,43752359,A,T&fts=all	K370N	--	--	1																																		VEGFA_uc003owd.2_3'UTR|VEGFA_uc003owf.2_3'UTR|VEGFA_uc003owe.2_3'UTR|VEGFA_uc003owg.2_3'UTR|VEGFA_uc003owh.2_3'UTR|VEGFA_uc003owj.2_3'UTR|VEGFA_uc010jyx.2_3'UTR|VEGFA_uc003owk.2_RNA	1				p.K370N	NM_001033756	NP_001028928			1	VEGFA_HUMAN	VEGFA	HGNC	P15692	VEGFA_HUMAN	all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Q9UNS8_HUMAN		7	1601	+	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		UPI0000030866	Error:Variant_position_missing_in_P15692_after_alignment					SNV	VEGFA,missense_variant,p.Lys370Asn,ENST00000482630,;VEGFA,missense_variant,p.Lys190Asn,ENST00000518824,;VEGFA,3_prime_UTR_variant,,ENST00000372067,NM_001025367.2,NM_001025369.2,NM_001171625.1,NM_001171629.1,NM_001171626.1,NM_001025368.2,NM_001025366.2,NM_001171623.1,NM_001171624.1,NM_001033756.2,NM_001171627.1,NM_003376.5;VEGFA,3_prime_UTR_variant,,ENST00000372064,NM_001025370.2,NM_001171628.1;VEGFA,3_prime_UTR_variant,,ENST00000372077,;VEGFA,3_prime_UTR_variant,,ENST00000425836,;VEGFA,3_prime_UTR_variant,,ENST00000520948,;VEGFA,3_prime_UTR_variant,,ENST00000230480,NM_001287044.1;VEGFA,3_prime_UTR_variant,,ENST00000523950,;VEGFA,downstream_gene_variant,,ENST00000372055,;VEGFA,downstream_gene_variant,,ENST00000413642,;VEGFA,downstream_gene_variant,,ENST00000417285,;VEGFA,downstream_gene_variant,,ENST00000519767,;VEGFA,downstream_gene_variant,,ENST00000324450,NM_001171622.1;VEGFA,downstream_gene_variant,,ENST00000523873,;VEGFA,downstream_gene_variant,,ENST00000518689,;VEGFA,downstream_gene_variant,,ENST00000523125,;VEGFA,downstream_gene_variant,,ENST00000457104,NM_001171630.1;VEGFA,downstream_gene_variant,,ENST00000520265,;VEGFA,non_coding_transcript_exon_variant,,ENST00000480614,;VEGFA,non_coding_transcript_exon_variant,,ENST00000497139,;VEGFA,downstream_gene_variant,,ENST00000493786,;	uc003owi.2	c.1110A>T	-/784	2	2			c.1110A>T						6	SNP	c.(1108-1110)AAA>AAT	18	18			ovary(1)|breast(1)	2	Broad	vascular endothelial growth factor A isoform g		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	43752359		0.527	ENSG00000112715	16896	g.chr6:43752359A>T	basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			359			359	85.828472	KEEP	17	15	-1	23	26	17	15	-1	86.739863	23	26	0.384615	1	0	0	0	0	1	0	0	0	--	--		0	T			VEGFA_uc003owd.2_3'UTR|VEGFA_uc003owf.2_3'UTR|VEGFA_uc003owe.2_3'UTR|VEGFA_uc003owg.2_3'UTR|VEGFA_uc003owh.2_3'UTR|VEGFA_uc003owj.2_3'UTR|VEGFA_uc010jyx.2_3'UTR|VEGFA_uc003owk.2_RNA	92	GBM-06-5408-TP	p.K370N	A	TCACCAGGAAAGACTGATACA	NM_001033756	NP_001028928	43752359	P15692	VEGFA_HUMAN	0	all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		7	1601	+	T	T	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		Missense_Mutation	Error:Variant_position_missing_in_P15692_after_alignment						
VEGFB	7423		GRCh37	11	64004662	64004663	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-81-5911-01	TCGA-81-5911-01																				ENST00000309422.2:c.386dup	p.Asp130GlyfsTer35	p.D130Gfs*35	ENST00000309422	NM_003377.4	126	-/A	0																																																																																																																																																																																																																																												
VEPH1	0	broad.mit.edu	GRCh37	3	157213090	157213090	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-2629-01	TCGA-19-2629-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000362010.2:c.49G>T	p.Ala17Ser	p.A17S	ENST00000362010	NM_001167912.1	17	Gct/Tct	0			1			A	A/S	uc003fbj.1	protein_coding	YES	CCDS3179.1			49/2502									breast(3)|ovary(1)|lung(1)	5	c.(49-51)GCT>TCT			hmmpanther:PTHR21630,hmmpanther:PTHR21630:SF9	ventricular zone expressed PH domain homolog 1				ENSP00000354919		14-Feb									COSM3408388,COSM3408389	14-Feb	.		ENST00000362010	Transcript				plasma membrane		ENSG00000197415	g.chr3:157213090C>A	25735			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=MELT_HUMAN&rb=1&re=377&var=A17S	NA	getma.org/?cm=var&var=hg19,3,157213090,C,A&fts=all	A17S	--	--	1																																		VEPH1_uc003fbk.1_Missense_Mutation_p.A17S|VEPH1_uc010hvu.1_Missense_Mutation_p.A17S|VEPH1_uc003fbm.2_Missense_Mutation_p.A17S|VEPH1_uc003fbn.2_Missense_Mutation_p.A17S	1,1	1		probably_damaging(0.999)	p.A17S	NM_024621	NP_078897		deleterious(0)	1,1	MELT_HUMAN	VEPH1	HGNC	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		C9JRT0_HUMAN,C9J4U8_HUMAN,C9J379_HUMAN,C9IZY4_HUMAN		2	366	-			UPI000013F6EE	17					SNV	VEPH1,missense_variant,p.Ala17Ser,ENST00000362010,NM_001167912.1;VEPH1,missense_variant,p.Ala17Ser,ENST00000543418,NM_024621.2;VEPH1,missense_variant,p.Ala17Ser,ENST00000392833,NM_001167911.1;VEPH1,missense_variant,p.Ala17Ser,ENST00000392832,;VEPH1,missense_variant,p.Ala17Ser,ENST00000494677,NM_001167915.1;VEPH1,missense_variant,p.Ala17Ser,ENST00000468233,NM_001167916.1;VEPH1,missense_variant,p.Ala17Ser,ENST00000537559,NM_001167917.1;VEPH1,missense_variant,p.Ala17Ser,ENST00000487753,;VEPH1,missense_variant,p.Ala17Ser,ENST00000461299,;VEPH1,missense_variant,p.Ala17Ser,ENST00000489602,;VEPH1,intron_variant,,ENST00000479987,;VEPH1,non_coding_transcript_exon_variant,,ENST00000483440,;VEPH1,missense_variant,p.Ala17Ser,ENST00000473907,;VEPH1,missense_variant,p.Ala17Ser,ENST00000475050,;	uc003fbj.1	c.49G>T	357/4202	2	2			c.49G>T						3	SNP	c.(49-51)GCT>TCT	43	43			breast(3)|ovary(1)|lung(1)	5	Broad	ventricular zone expressed PH domain homolog 1			157213090		0.413	ENSG00000197415	16900	g.chr3:157213090C>A		plasma membrane								30.858006	KEEP	8	19	0.703703704	101	86	8	19	0.703703704	57.972771	101	86	0.123077	1	0	0	0	0	1	0	0	0	--	--		0	A			VEPH1_uc003fbk.1_Missense_Mutation_p.A17S|VEPH1_uc010hvu.1_Missense_Mutation_p.A17S|VEPH1_uc003fbm.2_Missense_Mutation_p.A17S|VEPH1_uc003fbn.2_Missense_Mutation_p.A17S	166	GBM-19-2629-TP	p.A17S	C	AGGTCCCCAGCTCGTGAAAGA	NM_024621	NP_078897	157213090	Q14D04	MELT_HUMAN	0	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		2	366	-	A	A			Missense_Mutation	17						
VEZF1	7716	broad.mit.edu	GRCh37	17	56060219	56060219	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0209-01	TCGA-06-0209-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000581208.1:c.569A>G	p.Asn190Ser	p.N190S	ENST00000581208	NM_007146.2	190	aAt/aGt	0			1			C	N/S	uc002ivf.1	protein_coding	YES	CCDS32687.1			569/1566									ovary(1)|breast(1)	2	c.(568-570)AAT>AGT			PROSITE_profiles:PS50157,hmmpanther:PTHR11389:SF319,hmmpanther:PTHR11389,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 161				ENSP00000462337		6-Feb	1.65E-05			0.000231					rs745913326,COSM3403040	6-Feb	.		ENST00000581208	Transcript			cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	ENSG00000136451	g.chr17:56060219T>C	12949			MODERATE		0.295	neutral	getma.org/?cm=msa&ty=f&p=VEZF1_HUMAN&rb=168&re=233&var=N190S	getma.org/pdb.php?prot=VEZF1_HUMAN&from=188&to=213&var=N190S	getma.org/?cm=var&var=hg19,17,56060219,T,C&fts=all	N190S	--	--	1																																		VEZF1_uc010dcn.1_Missense_Mutation_p.N34S	0,1	1		benign(0.029)	p.N190S	NM_007146	NP_009077		tolerated(0.12)	0,1	VEZF1_HUMAN	VEZF1	HGNC	Q14119	VEZF1_HUMAN					2	712	-			UPI000013D01B	190			C2H2-type 2.		SNV	VEZF1,missense_variant,p.Asn3Ser,ENST00000258963,;VEZF1,missense_variant,p.Asn181Ser,ENST00000584396,;VEZF1,missense_variant,p.Asn190Ser,ENST00000581208,NM_007146.2;VEZF1,downstream_gene_variant,,ENST00000583932,;	uc002ivf.1	c.569A>G	610/2321	4	4			c.569A>G						17	SNP	c.(568-570)AAT>AGT	37	37			ovary(1)|breast(1)	2	Broad	zinc finger protein 161			56060219		0.483	ENSG00000136451	16901	g.chr17:56060219T>C	cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding							41.113689	KEEP	10	7	-1	27	30	10	7	-1	46.565675	27	30	0.205882	1	0	0	0	0	1	0	0	0	--	--		0	C			VEZF1_uc010dcn.1_Missense_Mutation_p.N34S	46	GBM-06-0209-TP	p.N190S	T	CTTGTGTCGATTGAGATGGTA	NM_007146	NP_009077	56060219	Q14119	VEZF1_HUMAN	0			2	712	-	C	C			Missense_Mutation	190			C2H2-type 2.			
VEZF1	7716	broad.mit.edu	GRCh37	17	56056604	56056605	+	inframe_insertion	In_Frame_Ins	INS	-	-	TGC	rs138088904;rs61731354	byFrequency	TCGA-06-0649-01	TCGA-06-0649-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000581208.1:c.1044_1046dup	p.Gln354dup	p.Q354dup	ENST00000581208	NM_007146.2	354	caa/caGCAa	0			1			TGC	Q/QQ	uc002ivf.1	protein_coding	YES	CCDS32687.1			1046-1047/1566									ovary(1)|breast(1)	2	c.(1045-1047)CAA>CAGCAA			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11389:SF319,hmmpanther:PTHR11389	zinc finger protein 161				ENSP00000462337		6-May									COSM1479777	6-May	.		ENST00000581208	Transcript			cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	ENSG00000136451	g.chr17:56056604_56056605insTGC	12949			MODERATE								--	--	1																																		VEZF1_uc010dcn.1_In_Frame_Ins_p.199_199Q>QQ	1	1			p.349_349Q>QQ	NM_007146	NP_009077			1	VEZF1_HUMAN	VEZF1	HGNC	Q14119	VEZF1_HUMAN					5	1189_1190	-			UPI000013D01B	349			Poly-Gln.		insertion	VEZF1,inframe_insertion,p.Gln173dup,ENST00000258963,;VEZF1,inframe_insertion,p.Gln345dup,ENST00000584396,;VEZF1,inframe_insertion,p.Gln354dup,ENST00000581208,NM_007146.2;VEZF1,downstream_gene_variant,,ENST00000583932,;	uc002ivf.1	c.1046_1047insGCA	1087-1088/2321	5	5			c.1046_1047insGCA						17	INS	c.(1045-1047)CAA>CAGCAA	58	58			ovary(1)|breast(1)	2	Broad	zinc finger protein 161			56056605		0.307	ENSG00000136451	16901	g.chr17:56056604_56056605insTGC	cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding																				0.03	1	0	0	1	1	0	0	0	0	--	--		0	TGC			VEZF1_uc010dcn.1_In_Frame_Ins_p.199_199Q>QQ	62	GBM-06-0649-TP	p.349_349Q>QQ	-	gttgttgttgttgctgctgctg	NM_007146	NP_009077	56056604	Q14119	VEZF1_HUMAN	0			5	1189_1190	-	TGC	TGC			In_Frame_Ins	349			Poly-Gln.			
VEZT	0	broad.mit.edu	GRCh37	12	95660405	95660405	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-2494-01	TCGA-32-2494-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000436874.1:c.707C>T	p.Thr236Ile	p.T236I	ENST00000436874	NM_017599.3	236	aCa/aTa	0			1			T	T/I	uc001tdz.2	protein_coding	YES	CCDS44954.1			707/2340									ovary(1)	1	c.(706-708)ACA>ATA			Pfam_domain:PF12632,hmmpanther:PTHR15989,hmmpanther:PTHR15989:SF5	vezatin, adherens junctions transmembrane				ENSP00000410083		12-May									COSM3399195,COSM3399196,COSM3399194	12-May	.		ENST00000436874	Transcript				acrosomal vesicle|adherens junction|integral to membrane|nucleus		ENSG00000028203	g.chr12:95660405C>T	18258			MODERATE		1.645	low	getma.org/?cm=msa&ty=f&p=VEZA_HUMAN&rb=149&re=440&var=T236I	NA	getma.org/?cm=var&var=hg19,12,95660405,C,T&fts=all	T236I	--	--	1																																		VEZT_uc009zsy.1_Missense_Mutation_p.T78I|VEZT_uc001tdr.2_Missense_Mutation_p.T78I|VEZT_uc001tds.2_Missense_Mutation_p.T188I|VEZT_uc001tdt.2_Missense_Mutation_p.T188I|VEZT_uc009zsz.1_Missense_Mutation_p.T236I|VEZT_uc001tdv.2_Missense_Mutation_p.T205I|VEZT_uc001tdw.1_Missense_Mutation_p.T188I|VEZT_uc009zta.1_Missense_Mutation_p.T188I	1,1,1	1		possibly_damaging(0.728)	p.T236I	NM_017599	NP_060069		deleterious(0.01)	1,1,1	VEZA_HUMAN	VEZT	HGNC	Q9HBM0	VEZA_HUMAN					5	812	+			UPI00001FB2EC	236					SNV	VEZT,missense_variant,p.Thr236Ile,ENST00000436874,NM_017599.3;VEZT,missense_variant,p.Thr188Ile,ENST00000261219,;VEZT,missense_variant,p.Thr188Ile,ENST00000397792,;VEZT,downstream_gene_variant,,ENST00000551472,;VEZT,downstream_gene_variant,,ENST00000549002,;VEZT,downstream_gene_variant,,ENST00000551311,;VEZT,downstream_gene_variant,,ENST00000546445,;VEZT,downstream_gene_variant,,ENST00000552821,;VEZT,non_coding_transcript_exon_variant,,ENST00000356859,;VEZT,non_coding_transcript_exon_variant,,ENST00000550106,;VEZT,non_coding_transcript_exon_variant,,ENST00000546398,;VEZT,non_coding_transcript_exon_variant,,ENST00000551902,;VEZT,intron_variant,,ENST00000551695,;VEZT,downstream_gene_variant,,ENST00000552626,;VEZT,downstream_gene_variant,,ENST00000546409,;VEZT,downstream_gene_variant,,ENST00000551746,;VEZT,downstream_gene_variant,,ENST00000553063,;VEZT,downstream_gene_variant,,ENST00000551356,;VEZT,downstream_gene_variant,,ENST00000547894,;VEZT,downstream_gene_variant,,ENST00000546365,;VEZT,3_prime_UTR_variant,,ENST00000547997,;VEZT,3_prime_UTR_variant,,ENST00000552660,;VEZT,3_prime_UTR_variant,,ENST00000551994,;VEZT,3_prime_UTR_variant,,ENST00000548838,;VEZT,3_prime_UTR_variant,,ENST00000547611,;VEZT,3_prime_UTR_variant,,ENST00000546557,;VEZT,3_prime_UTR_variant,,ENST00000548455,;VEZT,3_prime_UTR_variant,,ENST00000548371,;VEZT,non_coding_transcript_exon_variant,,ENST00000549192,;VEZT,upstream_gene_variant,,ENST00000552827,;VEZT,downstream_gene_variant,,ENST00000550803,;VEZT,downstream_gene_variant,,ENST00000548822,;VEZT,downstream_gene_variant,,ENST00000548245,;VEZT,downstream_gene_variant,,ENST00000551039,;VEZT,downstream_gene_variant,,ENST00000549624,;VEZT,downstream_gene_variant,,ENST00000547484,;	uc001tdz.2	c.707C>T	812/4562	2	2			c.707C>T						12	SNP	c.(706-708)ACA>ATA	33	33			ovary(1)	1	Broad	vezatin, adherens junctions transmembrane			95660405		0.313	ENSG00000028203	16902	g.chr12:95660405C>T		acrosomal vesicle|adherens junction|integral to membrane|nucleus								27.873388	KEEP	6	9	-1	15	28	6	9	-1	30.603143	15	28	0.25	1	0	0	0	0	1	0	0	0	--	--		0	T			VEZT_uc009zsy.1_Missense_Mutation_p.T78I|VEZT_uc001tdr.2_Missense_Mutation_p.T78I|VEZT_uc001tds.2_Missense_Mutation_p.T188I|VEZT_uc001tdt.2_Missense_Mutation_p.T188I|VEZT_uc009zsz.1_Missense_Mutation_p.T236I|VEZT_uc001tdv.2_Missense_Mutation_p.T205I|VEZT_uc001tdw.1_Missense_Mutation_p.T188I|VEZT_uc009zta.1_Missense_Mutation_p.T188I	236	GBM-32-2494-TP	p.T236I	C	AGAGGATTTACACTGTGAGTT	NM_017599	NP_060069	95660405	Q9HBM0	VEZA_HUMAN	0			5	812	+	T	T			Missense_Mutation	236						
VGLL2	245806		GRCh37	6	117589651	117589651	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000326274.5:c.388C>T	p.Arg130Ter	p.R130*	ENST00000326274	NM_182645.3	130	Cga/Tga	0																																																																																																																																																																																																																																												
VHL	7428	broad.mit.edu	GRCh37	3	10183867	10183867	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256474.2:c.336C>T	p.Tyr112=	p.Y112=	ENST00000256474	NM_000551.3	112	taC/taT	0			1			T	Y	uc003bvc.2	protein_coding	YES	CCDS2597.1		1	336/642	D|Mis|N|F|S			renal|hemangioma|pheochromocytoma	renal|hemangioma|pheochromocytoma			p.?(1)|p.Y112*(1)|p.Y112D(1)|p.I109_R113del(1)|p.S111fs*45(1)|p.R113fs*46(1)|p.Y112fs*1(1)|p.S111_Y112del(1)|p.Y112fs*47(1)	kidney(1273)|soft_tissue(24)|adrenal_gland(15)|large_intestine(13)|pancreas(5)|endometrium(4)|thyroid(3)|upper_aerodigestive_tract(3)|central_nervous_system(2)|lung(2)|pleura(1)|paratesticular_tissues(1)	1346	c.(334-336)TAC>TAT			Superfamily_domains:0040561,Gene3D:1lm8V02,Pfam_domain:PF01847,hmmpanther:PTHR15160,hmmpanther:PTHR15160:SF0	von Hippel-Lindau tumor suppressor isoform 1				ENSP00000256474		3-Jan	2.55E-05							0.000214	rs751232153,COSM2153368	3-Jan	.	von_Hippel-Lindau_disease|Chuvash_Polycythemia_|Pheochromocytoma_(Adrenal)_Familial	ENST00000256474	Transcript	1		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	ENSG00000134086	g.chr3:10183867C>T	12687			LOW								--	--	1																																		VHL_uc003bvd.2_Silent_p.Y112Y	0,1	1			p.Y112Y	NM_000551	NP_000542			0,1	VHL_HUMAN	VHL	HGNC	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	J9Z661_HUMAN,A0PJF6_HUMAN		1	549	+			UPI0000035C95	112		Y -> H (in VHLD; type IIA).|Y -> N (in VHLD).	Involved in binding to CCT complex.		SNV	VHL,synonymous_variant,p.=,ENST00000256474,NM_000551.3;VHL,synonymous_variant,p.=,ENST00000345392,NM_198156.2;snoU13,downstream_gene_variant,,ENST00000458986,;VHL,upstream_gene_variant,,ENST00000477538,;	uc003bvc.2	c.336C>T	1176/3737	2	2		1	c.336C>T	D|Mis|N|F|S			renal|hemangioma|pheochromocytoma	renal|hemangioma|pheochromocytoma	3	SNP	c.(334-336)TAC>TAT	29	29		p.?(1)|p.Y112*(1)|p.Y112D(1)|p.I109_R113del(1)|p.S111fs*45(1)|p.R113fs*46(1)|p.Y112fs*1(1)|p.S111_Y112del(1)|p.Y112fs*47(1)	kidney(1273)|soft_tissue(24)|adrenal_gland(15)|large_intestine(13)|pancreas(5)|endometrium(4)|thyroid(3)|upper_aerodigestive_tract(3)|central_nervous_system(2)|lung(2)|pleura(1)|paratesticular_tissues(1)	1346	Broad	von Hippel-Lindau tumor suppressor isoform 1			10183867	von_Hippel-Lindau_disease|Chuvash_Polycythemia_|Pheochromocytoma_(Adrenal)_Familial	0.637	ENSG00000134086	16908	g.chr3:10183867C>T	anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding			45			45	8.323003	KEEP	5	5	-1	11	3	5	5	-1	8.679293	11	3	0.3	1	0	0	0	0	0	0	1	0	--	--		0	T			VHL_uc003bvd.2_Silent_p.Y112Y	100	GBM-06-5418-TP	p.Y112Y	C	TCCACAGCTACCGAGGTACGG	NM_000551	NP_000542	10183867	P40337	VHL_HUMAN	0		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	1	549	+	T	T			Silent	112		Y -> H (in VHLD; type IIA).|Y -> N (in VHLD).	Involved in binding to CCT complex.			
VIL1	0	broad.mit.edu	GRCh37	2	219295468	219295468	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-12-5301-01	TCGA-12-5301-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000248444.5:c.969G>C	p.Gln323His	p.Q323H	ENST00000248444	NM_007127.2	323	caG/caC	0			1			C	Q/H	uc002via.2	protein_coding	YES	CCDS2417.1			969/2484									ovary(1)	1	c.(967-969)CAG>CAC			Superfamily_domains:SSF82754,SMART_domains:SM00262,Pfam_domain:PF00626,Gene3D:3.40.20.10,hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF35	villin 1				ENSP00000248444		20-Oct									COSM3407570	20-Oct	.		ENST00000248444	Transcript			actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	ENSG00000127831	g.chr2:219295468G>C	12690			MODERATE		0.77	neutral	getma.org/?cm=msa&ty=f&p=VILI_HUMAN&rb=266&re=343&var=Q323H	getma.org/pdb.php?prot=VILI_HUMAN&from=266&to=343&var=Q323H	getma.org/?cm=var&var=hg19,2,219295468,G,C&fts=all	Q323H	--	--	1																																		VIL1_uc010zke.1_Missense_Mutation_p.Q12H|VIL1_uc002vib.2_Missense_Mutation_p.Q323H|VIL1_uc002vic.1_Missense_Mutation_p.Q323H	1	1		benign(0.315)	p.Q323H	NM_007127	NP_009058		deleterious(0)	1	VILI_HUMAN	VIL1	HGNC	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Q53S11_HUMAN,B4DV78_HUMAN		10	1034	+		Renal(207;0.0474)	UPI000013CC45	323			Core.		SNV	VIL1,missense_variant,p.Gln323His,ENST00000248444,NM_007127.2;VIL1,missense_variant,p.Gln12His,ENST00000392114,;VIL1,missense_variant,p.Gln323His,ENST00000440053,;VIL1,upstream_gene_variant,,ENST00000419986,;VIL1,downstream_gene_variant,,ENST00000454069,;	uc002via.2	c.969G>C	1057/6531	4	4			c.969G>C						2	SNP	c.(967-969)CAG>CAC	42	42			ovary(1)	1	Broad	villin 1			219295468		0.557	ENSG00000127831	16910	g.chr2:219295468G>C	actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity							154.979941	KEEP	25	27	-1	41	66	25	27	-1	158.572872	41	66	0.330986	1	0	0	0	0	1	0	0	0	--	--		0	C			VIL1_uc010zke.1_Missense_Mutation_p.Q12H|VIL1_uc002vib.2_Missense_Mutation_p.Q323H|VIL1_uc002vic.1_Missense_Mutation_p.Q323H	131	GBM-12-5301-TP	p.Q323H	G	AAGCCAAGCAGTACCCACCAA	NM_007127	NP_009058	219295468	P09327	VILI_HUMAN	0		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1034	+	C	C		Renal(207;0.0474)	Missense_Mutation	323			Core.			
VIL1	0	broad.mit.edu	GRCh37	2	219294359	219294359	+	synonymous_variant	Silent	SNP	C	C	T	rs148795202		TCGA-76-4935-01	TCGA-76-4935-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000248444.5:c.810C>T	p.Val270=	p.V270=	ENST00000248444	NM_007127.2	270	gtC/gtT	0	T:0.0002		1			T	V	uc002via.2	protein_coding	YES	CCDS2417.1			810/2484									ovary(1)	1	c.(808-810)GTC>GTT			Superfamily_domains:SSF82754,SMART_domains:SM00262,Pfam_domain:PF00626,Gene3D:3.40.20.10,hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF35	villin 1			T:0	ENSP00000248444		20-Aug	1.65E-05	0.000194							rs148795202,COSM3407569	20-Aug	.		ENST00000248444	Transcript			actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	ENSG00000127831	g.chr2:219294359C>T	12690			LOW								--	--	1																																		VIL1_uc010zke.1_5'UTR|VIL1_uc002vib.2_Silent_p.V270V|VIL1_uc002vic.1_Silent_p.V270V	0,1	1			p.V270V	NM_007127	NP_009058			0,1	VILI_HUMAN	VIL1	HGNC	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Q53S11_HUMAN,B4DV78_HUMAN		8	875	+		Renal(207;0.0474)	UPI000013CC45	270			Core.|Gelsolin-like 3.		SNV	VIL1,synonymous_variant,p.=,ENST00000248444,NM_007127.2;VIL1,synonymous_variant,p.=,ENST00000440053,;VIL1,5_prime_UTR_variant,,ENST00000392114,;VIL1,upstream_gene_variant,,ENST00000419986,;VIL1,downstream_gene_variant,,ENST00000454069,;	uc002via.2	c.810C>T	898/6531	1	1			c.810C>T						2	SNP	c.(808-810)GTC>GTT	4	4			ovary(1)	1	Broad	villin 1			219294359		0.622	ENSG00000127831	16910	g.chr2:219294359C>T	actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity							8.616998	KEEP	5	14	-1	94	92	5	14	-1	35.694112	94	92	0.096386	1	0	0	0	0	0	0	1	0	--	--		0	T			VIL1_uc010zke.1_5'UTR|VIL1_uc002vib.2_Silent_p.V270V|VIL1_uc002vic.1_Silent_p.V270V	273	GBM-76-4935-TP	p.V270V	C	TGAGGGAAGTCGCCACACGGC	NM_007127	NP_009058	219294359	P09327	VILI_HUMAN	0		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	875	+	T	T		Renal(207;0.0474)	Silent	270			Core.|Gelsolin-like 3.			
VIL1	0	broad.mit.edu	GRCh37	2	219301877	219301877	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6193-01	TCGA-76-6193-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000248444.5:c.2002G>A	p.Glu668Lys	p.E668K	ENST00000248444	NM_007127.2	668	Gag/Aag	0			1			A	E/K	uc002via.2	protein_coding	YES	CCDS2417.1			2002/2484									ovary(1)	1	c.(2002-2004)GAG>AAG			Superfamily_domains:SSF55753,SMART_domains:SM00262,Pfam_domain:PF00626,Gene3D:3.40.20.10,hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF35,Low_complexity_(Seg):seg	villin 1				ENSP00000248444		17/20									COSM1172845	17/20	.		ENST00000248444	Transcript			actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	ENSG00000127831	g.chr2:219301877G>A	12690			MODERATE		0.72	neutral	getma.org/?cm=msa&ty=f&p=VILI_HUMAN&rb=630&re=708&var=E668K	getma.org/pdb.php?prot=VILI_HUMAN&from=630&to=708&var=E668K	getma.org/?cm=var&var=hg19,2,219301877,G,A&fts=all	E668K	--	--	1																																		VIL1_uc010zke.1_Missense_Mutation_p.E357K|VIL1_uc002vib.2_Missense_Mutation_p.E668K	1	1		benign(0.037)	p.E668K	NM_007127	NP_009058		tolerated(0.15)	1	VILI_HUMAN	VIL1	HGNC	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Q53S11_HUMAN,B4DV78_HUMAN		17	2067	+		Renal(207;0.0474)	UPI000013CC45	668			Gelsolin-like 6.|Core.		SNV	VIL1,missense_variant,p.Glu668Lys,ENST00000248444,NM_007127.2;VIL1,missense_variant,p.Glu357Lys,ENST00000392114,;VIL1,downstream_gene_variant,,ENST00000419986,;	uc002via.2	c.2002G>A	2090/6531	2	2			c.2002G>A						2	SNP	c.(2002-2004)GAG>AAG	34	34			ovary(1)	1	Broad	villin 1			219301877		0.577	ENSG00000127831	16910	g.chr2:219301877G>A	actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity							41.166988	KEEP	6	14	-1	43	48	6	14	-1	49.738549	43	48	0.193878	1	0	0	0	0	1	0	0	0	--	--		0	A			VIL1_uc010zke.1_Missense_Mutation_p.E357K|VIL1_uc002vib.2_Missense_Mutation_p.E668K	276	GBM-76-6193-TP	p.E668K	G	ACATGCCAACGAGGAGGAGAA	NM_007127	NP_009058	219301877	P09327	VILI_HUMAN	0		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	17	2067	+	A	A		Renal(207;0.0474)	Missense_Mutation	668			Gelsolin-like 6.|Core.			
VIL1	7429		GRCh37	2	219301876	219301876	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000248444.5:c.2001C>T	p.Asn667=	p.N667=	ENST00000248444	NM_007127.2	667	aaC/aaT	0																																																																																																																																																																																																																																												
VILL	0	broad.mit.edu	GRCh37	3	38048114	38048114	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-4068-01	TCGA-19-4068-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283713.6:c.2380G>T	p.Gly794Trp	p.G794W	ENST00000283713		794	Ggg/Tgg	0			1			T	G/W	uc003chj.2	protein_coding	YES	CCDS2670.2			2380/2571										0	c.(2380-2382)GGG>TGG			Gene3D:1.10.950.10,PROSITE_profiles:PS51089,hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF30,Superfamily_domains:SSF47050	villin-like protein				ENSP00000283713		19/20									COSM3408619	19/20	.		ENST00000283713	Transcript			actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	ENSG00000136059	g.chr3:38048114G>T	30906			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=VILL_HUMAN&rb=790&re=856&var=G794W	NA	getma.org/?cm=var&var=hg19,3,38048114,G,T&fts=all	G794W	--	--	1																																		VILL_uc003chl.2_Missense_Mutation_p.G794W	1	1		probably_damaging(0.976)	p.G794W	NM_015873	NP_056957		deleterious(0)	1	VILL_HUMAN	VILL	HGNC	O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	E9PFV5_HUMAN,C9JUR8_HUMAN		19	2666	+			UPI000022BFB0	794			HP.		SNV	VILL,missense_variant,p.Gly794Trp,ENST00000283713,;VILL,missense_variant,p.Gly794Trp,ENST00000383759,NM_015873.3;VILL,missense_variant,p.Gly512Trp,ENST00000465644,;PLCD1,downstream_gene_variant,,ENST00000463876,NM_001130964.1;PLCD1,downstream_gene_variant,,ENST00000334661,NM_006225.3;PLCD1,downstream_gene_variant,,ENST00000479619,;VILL,non_coding_transcript_exon_variant,,ENST00000486616,;PLCD1,downstream_gene_variant,,ENST00000461445,;VILL,downstream_gene_variant,,ENST00000484717,;PLCD1,downstream_gene_variant,,ENST00000484829,;VILL,downstream_gene_variant,,ENST00000463080,;VILL,downstream_gene_variant,,ENST00000412008,;PLCD1,downstream_gene_variant,,ENST00000417185,;PLCD1,downstream_gene_variant,,ENST00000495367,;VILL,downstream_gene_variant,,ENST00000488209,;PLCD1,downstream_gene_variant,,ENST00000495395,;	uc003chj.2	c.2380G>T	2646/2970	2	2			c.2380G>T						3	SNP	c.(2380-2382)GGG>TGG	45	45				0	Broad	villin-like protein			38048114		0.672	ENSG00000136059	16911	g.chr3:38048114G>T	actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton							-1.713831	KEEP	2	2	0.5	35	39	2	2	0.5	9.392227	35	39	0.068966	1	0	0	0	0	1	0	0	0	--	--		0	T			VILL_uc003chl.2_Missense_Mutation_p.G794W	168	GBM-19-4068-TP	p.G794W	G	CACGATCAACGGGGGCCTGCG	NM_015873	NP_056957	38048114	O15195	VILL_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	19	2666	+	T	T			Missense_Mutation	794			HP.			
VIPR1	0	broad.mit.edu	GRCh37	3	42567437	42567437	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5955-01	TCGA-19-5955-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325123.4:c.351G>A	p.Pro117=	p.P117=	ENST00000325123	NM_001251885.1	117	ccG/ccA	0			1			A	P	uc003clf.2	protein_coding	YES	CCDS2698.1			351/1374									skin(1)	1	c.(349-351)CCG>CCA			PROSITE_profiles:PS50227,hmmpanther:PTHR12011:SF31,hmmpanther:PTHR12011,Pfam_domain:PF02793,SMART_domains:SM00008,Superfamily_domains:SSF111418,Prints_domain:PR01154,Prints_domain:PR00491	vasoactive intestinal peptide receptor 1				ENSP00000327246		13-Apr	8.24E-06								rs757213503,COSM3408671	13-Apr	.		ENST00000325123	Transcript			digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	ENSG00000114812	g.chr3:42567437G>A	12694			LOW								--	--	1																																		VIPR1_uc011azl.1_Silent_p.P70P|VIPR1_uc011azm.1_5'UTR|VIPR1_uc011azn.1_Silent_p.P90P	0,1	1			p.P117P	NM_004624	NP_004615			0,1	VIPR1_HUMAN	VIPR1	HGNC	P32241	VIPR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.241)	C9JH33_HUMAN		4	475	+			UPI000005045A	117			Extracellular (Potential).		SNV	VIPR1,synonymous_variant,p.=,ENST00000433647,NM_001251882.1;VIPR1,synonymous_variant,p.=,ENST00000325123,NM_001251885.1,NM_004624.3;VIPR1,synonymous_variant,p.=,ENST00000543411,NM_001251884.1;VIPR1,synonymous_variant,p.=,ENST00000439731,;VIPR1,synonymous_variant,p.=,ENST00000450274,;VIPR1,5_prime_UTR_variant,,ENST00000438259,NM_001251883.1;VIPR1-AS1,intron_variant,,ENST00000452639,;VIPR1-AS1,intron_variant,,ENST00000600342,;VIPR1-AS1,intron_variant,,ENST00000602176,;VIPR1-AS1,intron_variant,,ENST00000598837,;VIPR1-AS1,intron_variant,,ENST00000593611,;VIPR1-AS1,intron_variant,,ENST00000593621,;VIPR1-AS1,intron_variant,,ENST00000596630,;VIPR1-AS1,intron_variant,,ENST00000601312,;VIPR1,non_coding_transcript_exon_variant,,ENST00000473575,;VIPR1,3_prime_UTR_variant,,ENST00000443646,;VIPR1,3_prime_UTR_variant,,ENST00000439910,;VIPR1,3_prime_UTR_variant,,ENST00000436487,;VIPR1,3_prime_UTR_variant,,ENST00000446673,;VIPR1,upstream_gene_variant,,ENST00000465338,;VIPR1,upstream_gene_variant,,ENST00000495189,;	uc003clf.2	c.351G>A	464/2773	1	1			c.351G>A						3	SNP	c.(349-351)CCG>CCA	54	54			skin(1)	1	Broad	vasoactive intestinal peptide receptor 1			42567437		0.662	ENSG00000114812	16915	g.chr3:42567437G>A	digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity							3.710097	KEEP	2	2	-1	16	14	2	2	-1	7.249245	16	14	0.12	1	0	0	0	0	0	0	1	0	--	--		0	A			VIPR1_uc011azl.1_Silent_p.P70P|VIPR1_uc011azm.1_5'UTR|VIPR1_uc011azn.1_Silent_p.P90P	175	GBM-19-5955-TP	p.P117P	G	AGCCTGGCCCGTACCCCATTG	NM_004624	NP_004615	42567437	P32241	VIPR1_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.241)	4	475	+	A	A			Silent	117			Extracellular (Potential).			
VIT	0	broad.mit.edu	GRCh37	2	37035618	37035618	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01	TCGA-12-0616-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389975.3:c.1348G>A	p.Val450Met	p.V450M	ENST00000389975	NM_001177970.1	450	Gtg/Atg	0			1			A	V/M	uc002rpl.2	protein_coding		CCDS54347.1			1348/2037									ovary(1)|pancreas(1)	2	c.(1393-1395)GTG>ATG			Gene3D:3.40.50.410,PROSITE_profiles:PS50234,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF3,SMART_domains:SM00327,Superfamily_domains:SSF53300	vitrin				ENSP00000374625		14/15	2.47E-05					4.81E-05			rs775954409,COSM2153580	14/15	.		ENST00000389975	Transcript				proteinaceous extracellular matrix		ENSG00000205221	g.chr2:37035618G>A	12697			MODERATE		2.27	medium	getma.org/?cm=msa&ty=f&p=VITRN_HUMAN&rb=293&re=465&var=V450M	getma.org/pdb.php?prot=VITRN_HUMAN&from=293&to=465&var=V450M	getma.org/?cm=var&var=hg19,2,37035618,G,A&fts=all	V450M	--	--	1																																		VIT_uc002rpm.2_Missense_Mutation_p.V443M|VIT_uc010ezv.2_Missense_Mutation_p.V421M|VIT_uc010ezw.2_Missense_Mutation_p.V422M	0,1			probably_damaging(0.998)	p.V465M	NM_053276	NP_444506		deleterious(0)	0,1	VITRN_HUMAN	VIT	HGNC	Q6UXI7	VITRN_HUMAN			C9J6F5_HUMAN		15	1614	+		all_hematologic(82;0.248)	UPI00000389D9	450			VWFA 1.		SNV	VIT,missense_variant,p.Val465Met,ENST00000379242,NM_053276.3;VIT,missense_variant,p.Val450Met,ENST00000389975,NM_001177970.1,NM_001177969.1;VIT,missense_variant,p.Val119Met,ENST00000497382,;VIT,missense_variant,p.Val428Met,ENST00000379241,NM_001177971.1;VIT,missense_variant,p.Val402Met,ENST00000404084,;VIT,missense_variant,p.Val429Met,ENST00000401530,;	uc002rpl.2	c.1393G>A	1650/2770	2	2			c.1393G>A						2	SNP	c.(1393-1395)GTG>ATG	17	17			ovary(1)|pancreas(1)	2	Broad	vitrin			37035618		0.602	ENSG00000205221	16917	g.chr2:37035618G>A		proteinaceous extracellular matrix								112.996078	KEEP	20	20	-1	21	24	20	20	-1	113.041735	21	24	0.473684	1	0	0	0	0	1	0	0	0	--	--		0	A			VIT_uc002rpm.2_Missense_Mutation_p.V443M|VIT_uc010ezv.2_Missense_Mutation_p.V421M|VIT_uc010ezw.2_Missense_Mutation_p.V422M	118	GBM-12-0616-TP	p.V465M	G	CTTCTAGGCCGTGTGCAGAAC	NM_053276	NP_444506	37035618	Q6UXI7	VITRN_HUMAN	0			15	1614	+	A	A		all_hematologic(82;0.248)	Missense_Mutation	450			VWFA 1.			
VLDLR	0	broad.mit.edu	GRCh37	9	2643641	2643641	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-16-1045-01	TCGA-16-1045-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382100.3:c.834C>T	p.Cys278=	p.C278=	ENST00000382100	NM_003383.3	278	tgC/tgT	0			1			T	C	uc003zhk.1	protein_coding	YES	CCDS6446.1			834/2622									ovary(1)|central_nervous_system(1)|pancreas(1)	3	c.(832-834)TGC>TGT			Superfamily_domains:SSF57424,SMART_domains:SM00192,Pfam_domain:PF00057,Gene3D:4.10.400.10,hmmpanther:PTHR10529:SF101,hmmpanther:PTHR10529,PROSITE_profiles:PS50068	very low density lipoprotein receptor isoform a				ENSP00000371532		19-Jun	8.24E-06					1.50E-05			rs746476660,COSM3413568	19-Jun	.		ENST00000382100	Transcript	1		cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	ENSG00000147852	g.chr9:2643641C>T	12698			LOW								--	--	1																																		VLDLR_uc003zhl.1_Silent_p.C278C|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Silent_p.C237C	0,1	1			p.C278C	NM_003383	NP_003374			0,1	VLDLR_HUMAN	VLDLR	HGNC	P98155	VLDLR_HUMAN		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)			6	1231	+			UPI0000055935	278			Extracellular (Potential).|LDL-receptor class A 7.		SNV	VLDLR,synonymous_variant,p.=,ENST00000382100,NM_003383.3;VLDLR,synonymous_variant,p.=,ENST00000382099,NM_001018056.1;VLDLR,downstream_gene_variant,,ENST00000382096,;RP11-125B21.2,upstream_gene_variant,,ENST00000599229,;VLDLR,upstream_gene_variant,,ENST00000478776,;	uc003zhk.1	c.834C>T	1190/9163	1	1			c.834C>T						9	SNP	c.(832-834)TGC>TGT	5	5			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Broad	very low density lipoprotein receptor isoform a			2643641		0.488	ENSG00000147852	16920	g.chr9:2643641C>T	cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity							-6.192517	KEEP	3	2	-1	46	43	3	2	-1	10.04203	46	43	0.061728	1	0	0	0	0	0	0	1	0	--	--		0	T			VLDLR_uc003zhl.1_Silent_p.C278C|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Silent_p.C237C	157	GBM-16-1045-TP	p.C278C	C	CTCGAACTTGCCGACCTGACC	NM_003383	NP_003374	2643641	P98155	VLDLR_HUMAN	0		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	6	1231	+	T	T			Silent	278			Extracellular (Potential).|LDL-receptor class A 7.			
VMAC	0	broad.mit.edu	GRCh37	19	5909016	5909016	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339485.3:c.373G>A	p.Glu125Lys	p.E125K	ENST00000339485	NM_001017921.3	125	Gag/Aag	0			1			A	E/K	uc002mds.3	protein_coding	YES	CCDS32881.1			373/510										0	c.(373-375)GAG>AAG			Low_complexity_(Seg):seg	vimentin-type IF-associated coiled-coil protein				ENSP00000343348		2-Feb	8.39E-06					3.30E-05			rs758659496,COSM3404734	2-Feb	.		ENST00000339485	Transcript				cytoplasm		ENSG00000187650	g.chr19:5909016G>A	33803			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=VMAC_HUMAN&rb=41&re=167&var=E125K	NA	getma.org/?cm=var&var=hg19,19,5909016,G,A&fts=all	E125K	--	--	1																																			0,1	1		probably_damaging(0.994)	p.E125K	NM_001017921	NP_001017921		deleterious(0)	0,1	VMAC_HUMAN	VMAC	HGNC	Q2NL98	VMAC_HUMAN					2	423	+			UPI000016103D	125					SNV	VMAC,missense_variant,p.Glu125Lys,ENST00000339485,NM_001017921.3;CAPS,upstream_gene_variant,,ENST00000588776,;AC104532.4,downstream_gene_variant,,ENST00000591109,;NDUFA11,upstream_gene_variant,,ENST00000591160,;AC104532.2,intron_variant,,ENST00000588891,;	uc002mds.3	c.373G>A	406/2254	2	2			c.373G>A						19	SNP	c.(373-375)GAG>AAG	21	21				0	Broad	vimentin-type IF-associated coiled-coil protein			5909016		0.721	ENSG00000187650	16922	g.chr19:5909016G>A		cytoplasm								12.398832	KEEP	1	4	-1	5	4	1	4	-1	12.423041	5	4	0.444444	1	0	0	0	0	1	0	0	0	--	--		0	A				159	GBM-19-1390-TP	p.E125K	G	GGCTGAGGCTGAGCGCCTGGG	NM_001017921	NP_001017921	5909016	Q2NL98	VMAC_HUMAN	0			2	423	+	A	A			Missense_Mutation	125						
VN1R2	0	broad.mit.edu	GRCh37	19	53761868	53761868	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-5216-01	TCGA-28-5216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341702.3:c.240C>T	p.His80=	p.H80=	ENST00000341702	NM_173856.2	80	caC/caT	0			1			T	H	uc002qbi.2	protein_coding	YES	CCDS12862.1			240/1188										0	c.(238-240)CAC>CAT			hmmpanther:PTHR24062:SF28,hmmpanther:PTHR24062	vomeronasal 1 receptor 2				ENSP00000351244		1-Jan	8.26E-05		0.000358	0.000749		4.27E-05		0.000276	rs758800191,COSM3404540	1-Jan	common_variant		ENST00000341702	Transcript			response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	ENSG00000196131	g.chr19:53761868C>T	19872			LOW								--	--	1																																			0,1	1			p.H80H	NM_173856	NP_776255			0,1	VN1R2_HUMAN	VN1R2	HGNC	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)			1	324	+			UPI0000062046	80			Cytoplasmic (Potential).		SNV	VN1R2,synonymous_variant,p.=,ENST00000341702,NM_173856.2;ZNF677,upstream_gene_variant,,ENST00000333952,;ZNF677,upstream_gene_variant,,ENST00000598513,NM_182609.2;ZNF677,upstream_gene_variant,,ENST00000594681,;ZNF677,upstream_gene_variant,,ENST00000599012,;ZNF677,upstream_gene_variant,,ENST00000601828,;ZNF677,upstream_gene_variant,,ENST00000601413,;ZNF677,upstream_gene_variant,,ENST00000598806,;ZNF677,upstream_gene_variant,,ENST00000594517,;ZNF677,upstream_gene_variant,,ENST00000595293,;VN1R2,upstream_gene_variant,,ENST00000598458,;	uc002qbi.2	c.240C>T	324/1311	2	2			c.240C>T						19	SNP	c.(238-240)CAC>CAT	48	48				0	Broad	vomeronasal 1 receptor 2			53761868		0.104	ENSG00000196131	16925	g.chr19:53761868C>T	response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity							51.547563	KEEP	9	9	-1	7	9	9	9	-1	51.572845	7	9	0.529412	1	0	0	0	0	0	0	1	0	--	--		0	T				223	GBM-28-5216-TP	p.H80H	C	tctctgcacacggagagaaac	NM_173856	NP_776255	53761868	Q8NFZ6	VN1R2_HUMAN	0		GBM - Glioblastoma multiforme(134;0.00301)	1	324	+	T	T			Silent	80			Cytoplasmic (Potential).			
VNN2	8875	broad.mit.edu	GRCh37	6	133078573	133078573	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs149351884		TCGA-06-5414-01	TCGA-06-5414-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326499.6:c.326C>T	p.Pro109Leu	p.P109L	ENST00000326499	NM_004665.2	109	cCg/cTg	0	A:0.0002		1			A	P/L	uc003qdt.2	protein_coding	YES	CCDS5161.1			326/1563										0	c.(325-327)CCG>CTG			PROSITE_profiles:PS50263,hmmpanther:PTHR10609,hmmpanther:PTHR10609:SF5,Gene3D:3.60.110.10,Pfam_domain:PF00795,PIRSF_domain:PIRSF011861,Superfamily_domains:SSF56317	vanin 2 isoform 1 precursor			A:0	ENSP00000322276		7-Feb	3.29E-05	0.00039							rs149351884,COSM3410595	7-Feb	.		ENST00000326499	Transcript			cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	ENSG00000112303	g.chr6:133078573G>A	12706			MODERATE		2.545	medium	getma.org/?cm=msa&ty=f&p=VNN2_HUMAN&rb=43&re=225&var=P109L	getma.org/pdb.php?prot=VNN2_HUMAN&from=43&to=225&var=P109L	getma.org/?cm=var&var=hg19,6,133078573,G,A&fts=all	P109L	--	--	1																																		VNN2_uc003qds.2_5'UTR|VNN2_uc010kgb.2_Missense_Mutation_p.P109L|VNN2_uc003qdv.2_Missense_Mutation_p.P56L	0,1	1		benign(0.349)	p.P109L	NM_004665	NP_004656		deleterious(0.01)	0,1	VNN2_HUMAN	VNN2	HGNC	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	E9PRD9_HUMAN,E9PL76_HUMAN,E9PK31_HUMAN		2	337	-			UPI000014194E	109			CN hydrolase.		SNV	VNN2,missense_variant,p.Pro109Leu,ENST00000326499,NM_004665.2;VNN2,missense_variant,p.Pro56Leu,ENST00000525270,NM_078488.1;VNN2,missense_variant,p.Pro109Leu,ENST00000525289,NM_001242350.1;VNN2,missense_variant,p.Pro109Leu,ENST00000524919,;VNN2,missense_variant,p.Pro56Leu,ENST00000530536,;VNN2,downstream_gene_variant,,ENST00000532012,;RP1-55C23.7,downstream_gene_variant,,ENST00000430895,;VNN2,non_coding_transcript_exon_variant,,ENST00000526192,;VNN2,non_coding_transcript_exon_variant,,ENST00000526157,;VNN2,missense_variant,p.Pro109Leu,ENST00000392389,;VNN2,missense_variant,p.Pro109Leu,ENST00000422400,;VNN2,missense_variant,p.Pro109Leu,ENST00000418593,;VNN2,missense_variant,p.Pro109Leu,ENST00000525674,;VNN2,missense_variant,p.Pro109Leu,ENST00000533835,;VNN2,missense_variant,p.Pro109Leu,ENST00000532053,;VNN2,missense_variant,p.Pro109Leu,ENST00000528801,;VNN2,missense_variant,p.Pro56Leu,ENST00000531279,;	uc003qdt.2	c.326C>T	451/2118	2	2			c.326C>T						6	SNP	c.(325-327)CCG>CTG	30	30				0	Broad	vanin 2 isoform 1 precursor			133078573		0.418	ENSG00000112303	16929	g.chr6:133078573G>A	cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity							177.295092	KEEP	35	28	-1	47	36	35	28	-1	178.096609	47	36	0.416667	1	0	0	0	0	1	0	0	0	--	--		0	A			VNN2_uc003qds.2_5'UTR|VNN2_uc010kgb.2_Missense_Mutation_p.P109L|VNN2_uc003qdv.2_Missense_Mutation_p.P56L	97	GBM-06-5414-TP	p.P109L	G	GTCTTGACACGGAATCCAGTT	NM_004665	NP_004656	133078573	O95498	VNN2_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	2	337	-	A	A			Missense_Mutation	109			CN hydrolase.			
VOPP1	81552	broad.mit.edu	GRCh37	7	55588786	55588786	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01	TCGA-06-0122-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000285279.5:c.92G>A	p.Gly31Glu	p.G31E	ENST00000285279	NM_030796.3	31	gGa/gAa	0			1			T	G/E	uc003tqs.2	protein_coding	YES	CCDS47588.1			92/519										0	c.(91-93)GGA>GAA			Prints_domain:PR02068,hmmpanther:PTHR14971	EGFR-coamplified and overexpressed protein				ENSP00000285279		5-Feb									COSM3412209	5-Feb	.		ENST00000285279	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic vesicle membrane|endosome|integral to organelle membrane	signal transducer activity	ENSG00000154978	g.chr7:55588786C>T	34518			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=VOPP1_HUMAN&rb=1&re=56&var=G31E	NA	getma.org/?cm=var&var=hg19,7,55588786,C,T&fts=all	G31E	--	--	1																																		VOPP1_uc003tqq.2_Missense_Mutation_p.G22E|VOPP1_uc010kzh.2_Missense_Mutation_p.G28E|VOPP1_uc010kzi.2_Missense_Mutation_p.G14E|VOPP1_uc011kcr.1_5'UTR	1	1		probably_damaging(0.999)	p.G31E	NM_030796	NP_110423		tolerated(0.1)	1	VOPP1_HUMAN	VOPP1	HGNC	Q96AW1	VOPP1_HUMAN			C9JTY8_HUMAN,C9JQ18_HUMAN,C9JIM1_HUMAN,C9JF99_HUMAN,C9J548_HUMAN		2	275	-			UPI000006F3B3	31			Extracellular (Potential).		SNV	VOPP1,missense_variant,p.Gly31Glu,ENST00000285279,NM_030796.3;VOPP1,missense_variant,p.Gly22Glu,ENST00000433959,NM_001284284.1;VOPP1,missense_variant,p.Gly28Glu,ENST00000545390,NM_001284283.1;VOPP1,missense_variant,p.Gly14Glu,ENST00000418904,NM_001284282.1;VOPP1,missense_variant,p.Gly29Glu,ENST00000427700,;VOPP1,5_prime_UTR_variant,,ENST00000428648,;VOPP1,5_prime_UTR_variant,,ENST00000428097,;VOPP1,5_prime_UTR_variant,,ENST00000454227,;VOPP1,5_prime_UTR_variant,,ENST00000417399,;VOPP1,5_prime_UTR_variant,,ENST00000455023,;VOPP1,5_prime_UTR_variant,,ENST00000414113,;VOPP1,5_prime_UTR_variant,,ENST00000452832,;VOPP1,non_coding_transcript_exon_variant,,ENST00000471168,;VOPP1,non_coding_transcript_exon_variant,,ENST00000462326,;VOPP1,3_prime_UTR_variant,,ENST00000453112,;VOPP1,non_coding_transcript_exon_variant,,ENST00000481197,;	uc003tqs.2	c.92G>A	293/2962	2	2			c.92G>A						7	SNP	c.(91-93)GGA>GAA	30	30				0	Broad	EGFR-coamplified and overexpressed protein			55588786		0.408	ENSG00000154978	16930	g.chr7:55588786C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic vesicle membrane|endosome|integral to organelle membrane	signal transducer activity							-35.385349	KEEP	4	4	-1	131	101	4	4	-1	15.057641	131	101	0.036866	1	0	0	0	0	1	0	0	0	--	--		0	T			VOPP1_uc003tqq.2_Missense_Mutation_p.G22E|VOPP1_uc010kzh.2_Missense_Mutation_p.G28E|VOPP1_uc010kzi.2_Missense_Mutation_p.G14E|VOPP1_uc011kcr.1_5'UTR	10	GBM-06-0122-TP	p.G31E	C	TGGATAGAGTCCTTCGAAATA	NM_030796	NP_110423	55588786	Q96AW1	VOPP1_HUMAN	0			2	275	-	T	T			Missense_Mutation	31			Extracellular (Potential).			
VPS13A	0	broad.mit.edu	GRCh37	9	79867155	79867155	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-14-1823-01	TCGA-14-1823-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360280.3:c.2175T>C	p.Asp725=	p.D725=	ENST00000360280	NM_033305.2	725	gaT/gaC	0			1			C	D	uc004akr.2	protein_coding	YES	CCDS6655.1			2175/9525									pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10	c.(2173-2175)GAT>GAC			hmmpanther:PTHR16166,hmmpanther:PTHR16166:SF22	vacuolar protein sorting 13A isoform A				ENSP00000353422		22/72									COSM3413740,COSM3413741,COSM3413742	22/72	.		ENST00000360280	Transcript	1		Golgi to endosome transport|protein transport	intracellular	protein binding	ENSG00000197969	g.chr9:79867155T>C	1908			LOW								--	--	1																																		VPS13A_uc004akp.3_Silent_p.D725D|VPS13A_uc004akq.3_Silent_p.D725D|VPS13A_uc004aks.2_Silent_p.D725D	1,1,1	1			p.D725D	NM_033305	NP_150648			1,1,1	VP13A_HUMAN	VPS13A	HGNC	Q96RL7	VP13A_HUMAN					22	2435	+			UPI0000210B7A	725					SNV	VPS13A,synonymous_variant,p.=,ENST00000360280,NM_033305.2;VPS13A,synonymous_variant,p.=,ENST00000376636,NM_001018037.1;VPS13A,synonymous_variant,p.=,ENST00000376634,NM_001018038.2;VPS13A,synonymous_variant,p.=,ENST00000357409,NM_015186.3;	uc004akr.2	c.2175T>C	2435/15320	3	3			c.2175T>C						9	SNP	c.(2173-2175)GAT>GAC	4	4			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10	Broad	vacuolar protein sorting 13A isoform A			79867155		0.343	ENSG00000197969	16935	g.chr9:79867155T>C	Golgi to endosome transport|protein transport	intracellular	protein binding							140.661075	KEEP	32	14	-1	55	34	32	14	-1	143.90582	55	34	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	C			VPS13A_uc004akp.3_Silent_p.D725D|VPS13A_uc004akq.3_Silent_p.D725D|VPS13A_uc004aks.2_Silent_p.D725D	147	GBM-14-1823-TP	p.D725D	T	ACTTAGGTGATAATTGGAGAG	NM_033305	NP_150648	79867155	Q96RL7	VP13A_HUMAN	0			22	2435	+	C	C			Silent	725						
VPS13B	157680	broad.mit.edu	GRCh37	8	100568723	100568723	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358544.2:c.4866C>T	p.Ile1622=	p.I1622=	ENST00000358544	NM_017890.4	1622	atC/atT	0		T:0.0008	1	T:0		T	I	uc003yiv.2	protein_coding	YES	CCDS6280.1			4866/12069									ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	c.(4864-4866)ATC>ATT			hmmpanther:PTHR12517,hmmpanther:PTHR12517:SF0	vacuolar protein sorting 13B isoform 5		T:0		ENSP00000351346	T:0	31/62	1.65E-05	9.76E-05						6.13E-05	rs543837370,COSM3412594,COSM3412595	31/62	.		ENST00000358544	Transcript	1	T:0.0002	protein transport			ENSG00000132549	g.chr8:100568723C>T	2183			LOW								--	--	1																																		VPS13B_uc003yiw.2_Silent_p.I1597I	0,1,1	1			p.I1622I	NM_017890	NP_060360	T:0		0,1,1	VP13B_HUMAN	VPS13B	HGNC	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)				31	4977	+	Breast(36;3.73e-07)		UPI00001D2D35	1622					SNV	VPS13B,synonymous_variant,p.=,ENST00000358544,NM_017890.4;VPS13B,synonymous_variant,p.=,ENST00000357162,NM_152564.4;VPS13B,3_prime_UTR_variant,,ENST00000395996,;VPS13B,intron_variant,,ENST00000521559,;VPS13B,3_prime_UTR_variant,,ENST00000496144,;	uc003yiv.2	c.4866C>T	4977/14094	1	1			c.4866C>T						8	SNP	c.(4864-4866)ATC>ATT	15	15			ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Broad	vacuolar protein sorting 13B isoform 5			100568723		0.398	ENSG00000132549	16936	g.chr8:100568723C>T	protein transport			Colon(161;2205 2542 7338 31318)		1116	Colon(161;2205 2542 7338 31318)		1116	41.23902	KEEP	2	13	-1	13	14	2	13	-1	41.922087	13	14	0.358974	1	0	0	0	0	0	0	1	0	--	--		0	T			VPS13B_uc003yiw.2_Silent_p.I1597I	65	GBM-06-0743-TP	p.I1622I	C	GATCAGAAATCGAAGACAGAC	NM_017890	NP_060360	100568723	Q7Z7G8	VP13B_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		31	4977	+	T	T	Breast(36;3.73e-07)		Silent	1622						
VPS13B	157680	broad.mit.edu	GRCh37	8	100732741	100732741	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01	TCGA-06-2564-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358544.2:c.6901G>A	p.Asp2301Asn	p.D2301N	ENST00000358544	NM_017890.4	2301	Gac/Aac	0			1			A	D/N	uc003yiv.2	protein_coding	YES	CCDS6280.1			6901/12069									ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	c.(6901-6903)GAC>AAC			hmmpanther:PTHR12517,hmmpanther:PTHR12517:SF0	vacuolar protein sorting 13B isoform 5				ENSP00000351346		38/62									COSM3412596,COSM3412597	38/62	.		ENST00000358544	Transcript	1		protein transport			ENSG00000132549	g.chr8:100732741G>A	2183			MODERATE		1.75	low	getma.org/?cm=msa&ty=f&p=VP13B_HUMAN&rb=2121&re=2320&var=D2301N	NA	getma.org/?cm=var&var=hg19,8,100732741,G,A&fts=all	D2301N	--	--	1																																		VPS13B_uc003yiw.2_Missense_Mutation_p.D2276N	1,1	1		benign(0.018)	p.D2301N	NM_017890	NP_060360		deleterious(0)	1,1	VP13B_HUMAN	VPS13B	HGNC	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)				38	7012	+	Breast(36;3.73e-07)		UPI00001D2D35	2301					SNV	VPS13B,missense_variant,p.Asp2301Asn,ENST00000358544,NM_017890.4;VPS13B,missense_variant,p.Asp2276Asn,ENST00000357162,NM_152564.4;VPS13B,3_prime_UTR_variant,,ENST00000395996,;VPS13B,upstream_gene_variant,,ENST00000518569,;	uc003yiv.2	c.6901G>A	7012/14094	2	2			c.6901G>A						8	SNP	c.(6901-6903)GAC>AAC	17	17			ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Broad	vacuolar protein sorting 13B isoform 5			100732741		0.403	ENSG00000132549	16936	g.chr8:100732741G>A	protein transport			Colon(161;2205 2542 7338 31318)		1116	Colon(161;2205 2542 7338 31318)		1116	-6.15704	KEEP	3	1	-1	22	46	3	1	-1	7.16654	22	46	0.060606	1	0	0	0	0	1	0	0	0	--	--		0	A			VPS13B_uc003yiw.2_Missense_Mutation_p.D2276N	87	GBM-06-2564-TP	p.D2301N	G	AAGTTCAGATGACCTACGGAC	NM_017890	NP_060360	100732741	Q7Z7G8	VP13B_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		38	7012	+	A	A	Breast(36;3.73e-07)		Missense_Mutation	2301						
VPS13B	157680		GRCh37	8	100821739	100821739	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000358544.2:c.8153T>C	p.Leu2718Pro	p.L2718P	ENST00000358544	NM_017890.4	2718	cTc/cCc	0																																																																																																																																																																																																																																												
VPS13C	0	broad.mit.edu	GRCh37	15	62292774	62292774	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-0813-01	TCGA-14-0813-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261517.5:c.1342G>T	p.Ala448Ser	p.A448S	ENST00000261517	NM_020821.2	448	Gca/Tca	0			1			A	A/S	uc002agz.2	protein_coding	YES	CCDS32257.1			1342/11262									ovary(2)	2	c.(1342-1344)GCA>TCA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16166:SF69,hmmpanther:PTHR16166	vacuolar protein sorting 13C protein isoform 2A				ENSP00000261517		16/85									COSM3401856,COSM3401857	16/85	.		ENST00000261517	Transcript			protein localization			ENSG00000129003	g.chr15:62292774C>A	23594			MODERATE		2.83	medium	getma.org/?cm=msa&ty=f&p=VP13C_HUMAN&rb=320&re=519&var=A448S	NA	getma.org/?cm=var&var=hg19,15,62292774,C,A&fts=all	A448S	--	--	1																																		VPS13C_uc002aha.2_Missense_Mutation_p.A405S|VPS13C_uc002ahb.1_Missense_Mutation_p.A448S|VPS13C_uc002ahc.1_Missense_Mutation_p.A405S	1,1	1		probably_damaging(0.977)	p.A448S	NM_020821	NP_065872		deleterious(0)	1,1	VP13C_HUMAN	VPS13C	HGNC	Q709C8	VP13C_HUMAN			B4E2S9_HUMAN,B3KW10_HUMAN		16	1416	-			UPI000023B7D3	448					SNV	VPS13C,missense_variant,p.Ala448Ser,ENST00000261517,NM_020821.2;VPS13C,missense_variant,p.Ala405Ser,ENST00000249837,NM_017684.4;VPS13C,missense_variant,p.Ala448Ser,ENST00000395896,NM_001018088.2;VPS13C,missense_variant,p.Ala405Ser,ENST00000395898,NM_018080.3;	uc002agz.2	c.1342G>T	1416/13400	1	1			c.1342G>T						15	SNP	c.(1342-1344)GCA>TCA	56	56			ovary(2)	2	Broad	vacuolar protein sorting 13C protein isoform 2A			62292774		0.308	ENSG00000129003	16937	g.chr15:62292774C>A	protein localization									10.356508	KEEP	4	1	0.2	18	7	4	1	0.2	13.080624	18	7	0.178571	1	0	0	0	0	1	0	0	0	--	--		0	A			VPS13C_uc002aha.2_Missense_Mutation_p.A405S|VPS13C_uc002ahb.1_Missense_Mutation_p.A448S|VPS13C_uc002ahc.1_Missense_Mutation_p.A405S	138	GBM-14-0813-TP	p.A448S	C	TCAACTTGTGCTTGTTGCCTT	NM_020821	NP_065872	62292774	Q709C8	VP13C_HUMAN	0			16	1416	-	A	A			Missense_Mutation	448						
VPS13C	0	broad.mit.edu	GRCh37	15	62182532	62182532	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs150364963		TCGA-28-5214-01	TCGA-28-5214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261517.5:c.9173G>A	p.Arg3058His	p.R3058H	ENST00000261517	NM_020821.2	3058	cGc/cAc	0	T:0.0002		1			T	R/H	uc002agz.2	protein_coding	YES	CCDS32257.1			9173/11262									ovary(2)	2	c.(9172-9174)CGC>CAC			hmmpanther:PTHR16166:SF69,hmmpanther:PTHR16166	vacuolar protein sorting 13C protein isoform 2A			T:0	ENSP00000261517		67/85	8.24E-06	9.61E-05							rs150364963,COSM3401854,COSM3401855	67/85	.		ENST00000261517	Transcript			protein localization			ENSG00000129003	g.chr15:62182532C>T	23594			MODERATE		2.19	medium	getma.org/?cm=msa&ty=f&p=VP13C_HUMAN&rb=3019&re=3218&var=R3058H	NA	getma.org/?cm=var&var=hg19,15,62182532,C,T&fts=all	R3058H	--	--	1																																		VPS13C_uc002aha.2_Missense_Mutation_p.R3015H|VPS13C_uc002ahb.1_Missense_Mutation_p.R3058H|VPS13C_uc002ahc.1_Missense_Mutation_p.R3015H	0,1,1	1		probably_damaging(0.999)	p.R3058H	NM_020821	NP_065872		deleterious(0.04)	0,1,1	VP13C_HUMAN	VPS13C	HGNC	Q709C8	VP13C_HUMAN			B4E2S9_HUMAN,B3KW10_HUMAN		67	9247	-			UPI000023B7D3	3058					SNV	VPS13C,missense_variant,p.Arg3058His,ENST00000261517,NM_020821.2;VPS13C,missense_variant,p.Arg3015His,ENST00000249837,NM_017684.4;VPS13C,missense_variant,p.Arg3058His,ENST00000395896,NM_001018088.2;VPS13C,missense_variant,p.Arg3015His,ENST00000395898,NM_018080.3;	uc002agz.2	c.9173G>A	9247/13400	2	2			c.9173G>A						15	SNP	c.(9172-9174)CGC>CAC	20	20			ovary(2)	2	Broad	vacuolar protein sorting 13C protein isoform 2A			62182532		0.443	ENSG00000129003	16937	g.chr15:62182532C>T	protein localization									77.742821	KEEP	19	16	-1	41	57	19	16	-1	83.814432	41	57	0.264463	1	0	0	0	0	1	0	0	0	--	--		0	T			VPS13C_uc002aha.2_Missense_Mutation_p.R3015H|VPS13C_uc002ahb.1_Missense_Mutation_p.R3058H|VPS13C_uc002ahc.1_Missense_Mutation_p.R3015H	221	GBM-28-5214-TP	p.R3058H	C	AACTCTCTGGCGCCCATCCAG	NM_020821	NP_065872	62182532	Q709C8	VP13C_HUMAN	0			67	9247	-	T	T			Missense_Mutation	3058						
VPS13C	54832		GRCh37	15	62300907	62300907	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000261517.5:c.1065G>A	p.Ala355=	p.A355=	ENST00000261517	NM_020821.2	355	gcG/gcA	0																																																																																																																																																																																																																																												
VPS13D	55187	broad.mit.edu	GRCh37	1	12418559	12418559	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01	TCGA-02-0047-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358136.3:c.10043C>T	p.Pro3348Leu	p.P3348L	ENST00000358136	NM_015378.2	3348	cCg/cTg	0			1			T	P/L	uc001atv.2	protein_coding	YES	CCDS30588.1			10043/13167									ovary(4)|pancreas(1)	5	c.(10042-10044)CCG>CTG			hmmpanther:PTHR16166:SF93,hmmpanther:PTHR16166,Pfam_domain:PF06650	vacuolar protein sorting 13D isoform 1				ENSP00000350854		50/70									COSM3399620	50/70	.		ENST00000358136	Transcript			protein localization			ENSG00000048707	g.chr1:12418559C>T	23595			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=VP13D_HUMAN&rb=3275&re=3559&var=P3347L	NA	getma.org/?cm=var&var=hg19,1,12418559,C,T&fts=all	P3347L	--	--	1																																		VPS13D_uc001atw.2_Missense_Mutation_p.P3323L|VPS13D_uc001atx.2_Missense_Mutation_p.P2535L	1	1		probably_damaging(0.998)	p.P3348L	NM_015378	NP_056193			1		VPS13D	HGNC	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	M0QXS2_HUMAN,J3KP14_HUMAN		50	10184	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	UPI0000451CA9	3347					SNV	VPS13D,missense_variant,p.Pro3348Leu,ENST00000358136,NM_015378.2;VPS13D,missense_variant,p.Pro3323Leu,ENST00000356315,NM_018156.2;VPS13D,missense_variant,p.Pro2170Leu,ENST00000011700,;VPS13D,non_coding_transcript_exon_variant,,ENST00000460333,;	uc001atv.2	c.10043C>T	10173/16318	1	1			c.10043C>T						1	SNP	c.(10042-10044)CCG>CTG	13	13			ovary(4)|pancreas(1)	5	Broad	vacuolar protein sorting 13D isoform 1			12418559		0.512	ENSG00000048707	16938	g.chr1:12418559C>T	protein localization									37.927292	KEEP	11	13	-1	72	64	11	13	-1	54.103281	72	64	0.151079	1	0	0	0	0	1	0	0	0	--	--		0	T			VPS13D_uc001atw.2_Missense_Mutation_p.P3323L|VPS13D_uc001atx.2_Missense_Mutation_p.P2535L	3	GBM-02-0047-TP	p.P3348L	C	GAAGGCATGCCGGGCTGGTGT	NM_015378	NP_056193	12418559	Q5THJ4	VP13D_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	50	10184	+	T	T	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	3347						
VPS13D	0	broad.mit.edu	GRCh37	1	12371650	12371650	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5220-01	TCGA-28-5220-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358136.3:c.6790C>T	p.Arg2264Trp	p.R2264W	ENST00000358136	NM_015378.2	2264	Cgg/Tgg	0			1			T	R/W	uc001atv.2	protein_coding	YES	CCDS30588.1			6790/13167									ovary(4)|pancreas(1)	5	c.(6790-6792)CGG>TGG			hmmpanther:PTHR16166:SF93,hmmpanther:PTHR16166	vacuolar protein sorting 13D isoform 1				ENSP00000350854		28/70	8.24E-06							6.07E-05	rs765796682,COSM3399619	28/70	.		ENST00000358136	Transcript			protein localization			ENSG00000048707	g.chr1:12371650C>T	23595			MODERATE		2.085	medium	getma.org/?cm=msa&ty=f&p=VP13D_HUMAN&rb=2119&re=2318&var=R2264W	NA	getma.org/?cm=var&var=hg19,1,12371650,C,T&fts=all	R2264W	--	--	1																																		VPS13D_uc001atw.2_Missense_Mutation_p.R2264W|VPS13D_uc001atx.2_Missense_Mutation_p.R1452W|VPS13D_uc001aty.1_Missense_Mutation_p.R2W	0,1	1		probably_damaging(0.963)	p.R2264W	NM_015378	NP_056193			0,1		VPS13D	HGNC	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	M0QXS2_HUMAN,J3KP14_HUMAN		28	6931	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	UPI0000451CA9	2264					SNV	VPS13D,missense_variant,p.Arg2264Trp,ENST00000358136,NM_015378.2;VPS13D,missense_variant,p.Arg2264Trp,ENST00000356315,NM_018156.2;VPS13D,missense_variant,p.Arg1087Trp,ENST00000011700,;VPS13D,non_coding_transcript_exon_variant,,ENST00000460333,;VPS13D,non_coding_transcript_exon_variant,,ENST00000487188,;	uc001atv.2	c.6790C>T	6920/16318	1	1			c.6790C>T						1	SNP	c.(6790-6792)CGG>TGG	13	13			ovary(4)|pancreas(1)	5	Broad	vacuolar protein sorting 13D isoform 1			12371650		0.438	ENSG00000048707	16938	g.chr1:12371650C>T	protein localization									-76.409392	KEEP	4	3	-1	189	172	4	3	-1	8.993375	189	172	0.018349	1	0	0	0	0	1	0	0	0	--	--		0	T			VPS13D_uc001atw.2_Missense_Mutation_p.R2264W|VPS13D_uc001atx.2_Missense_Mutation_p.R1452W|VPS13D_uc001aty.1_Missense_Mutation_p.R2W	226	GBM-28-5220-TP	p.R2264W	C	GGAATTTATGCGGCCTTATGA	NM_015378	NP_056193	12371650	Q5THJ4	VP13D_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	28	6931	+	T	T	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	2264						
VPS13D	55187		GRCh37	1	12414081	12414081	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000358136.3:c.9482A>G	p.Asn3161Ser	p.N3161S	ENST00000358136	NM_015378.2	3161	aAc/aGc	0																																																																																																																																																																																																																																												
VPS16	64601	broad.mit.edu	GRCh37	20	2846921	2846921	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01	TCGA-06-0744-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380445.3:c.2335G>A	p.Val779Met	p.V779M	ENST00000380445	NM_022575.2	779	Gtg/Atg	0			1			A	V/M	uc002whe.2	protein_coding	YES	CCDS13036.1			2335/2520									ovary(2)|pancreas(1)|skin(1)	4	c.(2335-2337)GTG>ATG			hmmpanther:PTHR12811,hmmpanther:PTHR12811:SF0,Pfam_domain:PF04840,PIRSF_domain:PIRSF007949	vacuolar protein sorting 16 isoform 1				ENSP00000369810		23/24	2.47E-05		0.000173			1.50E-05			rs776564660,COSM3404994,COSM3404995	23/24	.		ENST00000380445	Transcript			intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		ENSG00000215305	g.chr20:2846921G>A	14584			MODERATE		1.98	medium	getma.org/?cm=msa&ty=f&p=VPS16_HUMAN&rb=517&re=835&var=V779M	NA	getma.org/?cm=var&var=hg19,20,2846921,G,A&fts=all	V779M	--	--	1																																		VPS16_uc002whh.2_Intron|PTPRA_uc002whj.2_Intron|VPS16_uc002whf.2_Missense_Mutation_p.V635M|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_Missense_Mutation_p.V465M|VPS16_uc002whi.2_Missense_Mutation_p.V263M	0,1,1	1		probably_damaging(0.997)	p.V779M	NM_022575	NP_072097		deleterious(0)	0,1,1	VPS16_HUMAN	VPS16	HGNC	Q9H269	VPS16_HUMAN			A1A4H0_HUMAN		23	2383	+			UPI0000138B87	779					SNV	VPS16,missense_variant,p.Val779Met,ENST00000380445,NM_022575.2;VPS16,missense_variant,p.Val635Met,ENST00000380469,NM_080413.1;VPS16,missense_variant,p.Val465Met,ENST00000380443,;PTPRA,intron_variant,,ENST00000380393,NM_002836.3;VPS16,downstream_gene_variant,,ENST00000453689,;VPS16,downstream_gene_variant,,ENST00000417508,;VPS16,non_coding_transcript_exon_variant,,ENST00000466415,;VPS16,downstream_gene_variant,,ENST00000481812,;VPS16,downstream_gene_variant,,ENST00000487461,;	uc002whe.2	c.2335G>A	2407/2750	2	2			c.2335G>A						20	SNP	c.(2335-2337)GTG>ATG	41	41			ovary(2)|pancreas(1)|skin(1)	4	Broad	vacuolar protein sorting 16 isoform 1			2846921		0.552	ENSG00000215305	16939	g.chr20:2846921G>A	intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome								-11.927917	KEEP	2	1	-1	48	36	2	1	-1	6.578959	48	36	0.0375	1	0	0	0	0	1	0	0	0	--	--		0	A			VPS16_uc002whh.2_Intron|PTPRA_uc002whj.2_Intron|VPS16_uc002whf.2_Missense_Mutation_p.V635M|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_Missense_Mutation_p.V465M|VPS16_uc002whi.2_Missense_Mutation_p.V263M	66	GBM-06-0744-TP	p.V779M	G	TGCTTCCCGCGTGGGTCCCGA	NM_022575	NP_072097	2846921	Q9H269	VPS16_HUMAN	0			23	2383	+	A	A			Missense_Mutation	779						
VPS16	0	broad.mit.edu	GRCh37	20	2843940	2843940	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01	TCGA-19-2623-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380445.3:c.1372G>A	p.Val458Met	p.V458M	ENST00000380445	NM_022575.2	458	Gtg/Atg	0	A:0.0002		1			A	V/M	uc002whe.2	protein_coding	YES	CCDS13036.1			1372/2520									ovary(2)|pancreas(1)|skin(1)	4	c.(1372-1374)GTG>ATG			Low_complexity_(Seg):seg,hmmpanther:PTHR12811,hmmpanther:PTHR12811:SF0,PIRSF_domain:PIRSF007949	vacuolar protein sorting 16 isoform 1			A:0	ENSP00000369810		15/24	1.65E-05	0.000192							rs377198108,COSM3404992,COSM3404993	15/24	.		ENST00000380445	Transcript			intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		ENSG00000215305	g.chr20:2843940G>A	14584			MODERATE		1.995	medium	getma.org/?cm=msa&ty=f&p=VPS16_HUMAN&rb=421&re=516&var=V458M	NA	getma.org/?cm=var&var=hg19,20,2843940,G,A&fts=all	V458M	--	--	1																																		VPS16_uc002whh.2_RNA|PTPRA_uc002whj.2_5'Flank|VPS16_uc002whf.2_Missense_Mutation_p.V314M|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_Missense_Mutation_p.V144M|VPS16_uc002whi.2_5'Flank	0,1,1	1		probably_damaging(0.982)	p.V458M	NM_022575	NP_072097		deleterious(0)	0,1,1	VPS16_HUMAN	VPS16	HGNC	Q9H269	VPS16_HUMAN			A1A4H0_HUMAN		15	1420	+			UPI0000138B87	458					SNV	VPS16,missense_variant,p.Val458Met,ENST00000380445,NM_022575.2;VPS16,missense_variant,p.Val314Met,ENST00000380469,NM_080413.1;VPS16,missense_variant,p.Val144Met,ENST00000380443,;VPS16,missense_variant,p.Val196Met,ENST00000453689,;PTPRA,upstream_gene_variant,,ENST00000380393,NM_002836.3;VPS16,downstream_gene_variant,,ENST00000417508,;VPS16,non_coding_transcript_exon_variant,,ENST00000481812,;VPS16,upstream_gene_variant,,ENST00000466415,;VPS16,upstream_gene_variant,,ENST00000487461,;	uc002whe.2	c.1372G>A	1444/2750	1	1			c.1372G>A						20	SNP	c.(1372-1374)GTG>ATG	57	57			ovary(2)|pancreas(1)|skin(1)	4	Broad	vacuolar protein sorting 16 isoform 1			2843940		0.592	ENSG00000215305	16939	g.chr20:2843940G>A	intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome								-2.082683	KEEP	5	4	-1	58	50	5	4	-1	18.571593	58	50	0.072727	1	0	0	0	0	1	0	0	0	--	--		0	A			VPS16_uc002whh.2_RNA|PTPRA_uc002whj.2_5'Flank|VPS16_uc002whf.2_Missense_Mutation_p.V314M|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_Missense_Mutation_p.V144M|VPS16_uc002whi.2_5'Flank	163	GBM-19-2623-TP	p.V458M	G	TACCAGGCTCGTGTTGCGGAG	NM_022575	NP_072097	2843940	Q9H269	VPS16_HUMAN	0			15	1420	+	A	A			Missense_Mutation	458						
VPS18	57617	broad.mit.edu	GRCh37	15	41191638	41191638	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6390-01	TCGA-06-6390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000220509.5:c.622C>T	p.Leu208Phe	p.L208F	ENST00000220509	NM_020857.2	208	Ctt/Ttt	0			1			T	L/F	uc001zne.2	protein_coding	YES	CCDS10069.1			622/2922						not_provided			ovary(2)|large_intestine(1)	3	c.(622-624)CTT>TTT			hmmpanther:PTHR23323:SF26,hmmpanther:PTHR23323	vacuolar protein sorting 18				ENSP00000220509		5-Apr									rs267604184,COSM2153445	5-Apr	.		ENST00000220509	Transcript			endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	ENSG00000104142	g.chr15:41191638C>T	15972			MODERATE		2.16	medium	getma.org/?cm=msa&ty=f&p=VPS18_HUMAN&rb=201&re=290&var=L208F	NA	getma.org/?cm=var&var=hg19,15,41191638,C,T&fts=all	L208F	--	--	1																																			1,1	1		possibly_damaging(0.722)	p.L208F	NM_020857	NP_065908		deleterious(0.01)	0,1	VPS18_HUMAN	VPS18	HGNC	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)			4	961	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	UPI0000049FBC	208					SNV	VPS18,missense_variant,p.Leu208Phe,ENST00000220509,NM_020857.2;VPS18,intron_variant,,ENST00000558474,;VPS18,downstream_gene_variant,,ENST00000558855,;	uc001zne.2	c.622C>T	961/3895	1	1			c.622C>T						15	SNP	c.(622-624)CTT>TTT	3	3			ovary(2)|large_intestine(1)	3	Broad	vacuolar protein sorting 18			41191638		0.617	ENSG00000104142	16940	g.chr15:41191638C>T	endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding							134.607876	KEEP	36	18	-1	77	92	36	18	-1	146.94112	77	92	0.24	1	0	0	0	0	1	0	0	0	--	--		0	T				106	GBM-06-6390-TP	p.L208F	C	TGTGTGCTCCCTTGAGGCCGA	NM_020857	NP_065908	41191638	Q9P253	VPS18_HUMAN	0		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	4	961	+	T	T		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	Missense_Mutation	208						
VPS18	0	broad.mit.edu	GRCh37	15	41191139	41191139	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5215-01	TCGA-28-5215-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000220509.5:c.268G>A	p.Val90Met	p.V90M	ENST00000220509	NM_020857.2	90	Gtg/Atg	0			1			A	V/M	uc001zne.2	protein_coding	YES	CCDS10069.1			268/2922									ovary(2)|large_intestine(1)	3	c.(268-270)GTG>ATG			hmmpanther:PTHR23323:SF26,hmmpanther:PTHR23323	vacuolar protein sorting 18				ENSP00000220509		5-Mar	8.24E-06							6.28E-05	rs201577141,COSM3401711	5-Mar	.		ENST00000220509	Transcript			endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	ENSG00000104142	g.chr15:41191139G>A	15972			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=VPS18_HUMAN&rb=1&re=200&var=V90M	NA	getma.org/?cm=var&var=hg19,15,41191139,G,A&fts=all	V90M	--	--	1																																			0,1	1		benign(0.014)	p.V90M	NM_020857	NP_065908		tolerated(0.08)	0,1	VPS18_HUMAN	VPS18	HGNC	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)			3	607	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	UPI0000049FBC	90					SNV	VPS18,missense_variant,p.Val90Met,ENST00000220509,NM_020857.2;VPS18,missense_variant,p.Val90Met,ENST00000558474,;VPS18,3_prime_UTR_variant,,ENST00000558855,;	uc001zne.2	c.268G>A	607/3895	2	2			c.268G>A						15	SNP	c.(268-270)GTG>ATG	41	41			ovary(2)|large_intestine(1)	3	Broad	vacuolar protein sorting 18			41191139		0.448	ENSG00000104142	16940	g.chr15:41191139G>A	endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding							38.212367	KEEP	10	9	-1	22	9	10	9	-1	38.6686	22	9	0.384615	1	0	0	0	0	1	0	0	0	--	--		0	A				222	GBM-28-5215-TP	p.V90M	G	GCCCAACCACGTGGAGCTGGG	NM_020857	NP_065908	41191139	Q9P253	VPS18_HUMAN	0		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	3	607	+	A	A		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	Missense_Mutation	90						
VPS18	0	broad.mit.edu	GRCh37	15	41193044	41193044	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6282-01	TCGA-76-6282-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000220509.5:c.2028G>A	p.Pro676=	p.P676=	ENST00000220509	NM_020857.2	676	ccG/ccA	0			1			A	P	uc001zne.2	protein_coding	YES	CCDS10069.1			2028/2922									ovary(2)|large_intestine(1)	3	c.(2026-2028)CCG>CCA			Pfam_domain:PF00637,hmmpanther:PTHR23323:SF26,hmmpanther:PTHR23323,PROSITE_profiles:PS50236	vacuolar protein sorting 18				ENSP00000220509		5-Apr	3.29E-05		8.64E-05					0.000182	rs765867213,COSM3401712	5-Apr	.		ENST00000220509	Transcript			endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	ENSG00000104142	g.chr15:41193044G>A	15972			LOW								--	--	1																																			0,1	1			p.P676P	NM_020857	NP_065908			0,1	VPS18_HUMAN	VPS18	HGNC	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)			4	2367	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	UPI0000049FBC	676			Clathrin.		SNV	VPS18,synonymous_variant,p.=,ENST00000220509,NM_020857.2;VPS18,intron_variant,,ENST00000558474,;VPS18,downstream_gene_variant,,ENST00000558855,;	uc001zne.2	c.2028G>A	2367/3895	1	1			c.2028G>A						15	SNP	c.(2026-2028)CCG>CCA	59	59			ovary(2)|large_intestine(1)	3	Broad	vacuolar protein sorting 18			41193044		0.647	ENSG00000104142	16940	g.chr15:41193044G>A	endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding							48.529826	KEEP	7	12	-1	26	32	7	12	-1	51.760252	26	32	0.268657	1	0	0	0	0	0	0	1	0	--	--		0	A				278	GBM-76-6282-TP	p.P676P	G	GTGGCCGGCCGGACTCACTAC	NM_020857	NP_065908	41193044	Q9P253	VPS18_HUMAN	0		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	4	2367	+	A	A		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	Silent	676			Clathrin.			
VPS26B	0	broad.mit.edu	GRCh37	11	134104939	134104939	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-32-1991-01	TCGA-32-1991-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281187.5:c.372G>T	p.Val124=	p.V124=	ENST00000281187	NM_052875.3	124	gtG/gtT	0			1			T	V	uc001qhe.2	protein_coding	YES	CCDS8495.1			372/1011										0	c.(370-372)GTG>GTT			Pfam_domain:PF03643,hmmpanther:PTHR12233,hmmpanther:PTHR12233:SF5	vacuolar protein sorting 26 homolog B				ENSP00000281187		6-Feb									COSM3397574	6-Feb	.		ENST00000281187	Transcript			protein transport|vacuolar transport	cytosol|retromer complex		ENSG00000151502	g.chr11:134104939G>T	28119			LOW								--	--	1																																			1	1			p.V124V	NM_052875	NP_443107			1	VP26B_HUMAN	VPS26B	HGNC	Q4G0F5	VP26B_HUMAN		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)			2	828	+	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	UPI000006DC43	124					SNV	VPS26B,synonymous_variant,p.=,ENST00000281187,NM_052875.3;VPS26B,synonymous_variant,p.=,ENST00000525095,;VPS26B,non_coding_transcript_exon_variant,,ENST00000530402,;VPS26B,non_coding_transcript_exon_variant,,ENST00000532160,;VPS26B,intron_variant,,ENST00000527586,;VPS26B,upstream_gene_variant,,ENST00000525918,;	uc001qhe.2	c.372G>T	850/3691	1	1			c.372G>T						11	SNP	c.(370-372)GTG>GTT	6	6				0	Broad	vacuolar protein sorting 26 homolog B			134104939		0.562	ENSG00000151502	16944	g.chr11:134104939G>T	protein transport|vacuolar transport	cytosol|retromer complex		Colon(171;1263 1952 15904 45703 47982)			Colon(171;1263 1952 15904 45703 47982)			160.364074	KEEP	33	40	0.452054795	48	67	33	40	0.452054795	161.512821	48	67	0.402878	1	0	0	0	0	0	0	1	0	--	--		0	T				234	GBM-32-1991-TP	p.V124V	G	GGCAGAATGTGAAGCTACGGT	NM_052875	NP_443107	134104939	Q4G0F5	VP26B_HUMAN	0		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)	2	828	+	T	T	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	Silent	124						
VPS29	0	broad.mit.edu	GRCh37	12	110929907	110929907	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-12-5299-01	TCGA-12-5299-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000549578.1:c.452T>C	p.Val151Ala	p.V151A	ENST00000549578	NM_016226.3	151	gTg/gCg	0			1			G	V/A	uc001tqy.2	protein_coding		CCDS41832.1			452/549										0	c.(451-453)GTG>GCG			hmmpanther:PTHR11124,Gene3D:3.60.21.10,Pfam_domain:PF12850,Superfamily_domains:SSF56300	vacuolar protein sorting 29 isoform 1				ENSP00000447058		4-Apr									COSM3398342,COSM3398341	4-Apr	.		ENST00000549578	Transcript			protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity	ENSG00000111237	g.chr12:110929907A>G	14340			MODERATE		0.625	neutral	getma.org/?cm=msa&ty=f&p=VPS29_HUMAN&rb=1&re=158&var=V151A	getma.org/pdb.php?prot=VPS29_HUMAN&from=1&to=158&var=V151A	getma.org/?cm=var&var=hg19,12,110929907,A,G&fts=all	V151A	--	--	1																																		VPS29_uc001tqw.2_RNA|VPS29_uc001tqx.2_Missense_Mutation_p.V155A|VPS29_uc001tqz.2_RNA	1,1			benign(0.093)	p.V151A	NM_016226	NP_057310		tolerated(0.33)	1,1	VPS29_HUMAN	VPS29	HGNC	Q9UBQ0	VPS29_HUMAN			Q05DG7_HUMAN,E9RKB4_HUMAN		4	512	-			UPI000003DBBC	151					SNV	VPS29,missense_variant,p.Val151Ala,ENST00000549578,NM_016226.3;VPS29,missense_variant,p.Val155Ala,ENST00000360579,NM_057180.1;VPS29,missense_variant,p.Val183Ala,ENST00000546588,NM_001282150.1;VPS29,missense_variant,p.Val56Ala,ENST00000552130,;VPS29,missense_variant,p.Val56Ala,ENST00000447578,;VPS29,missense_variant,p.Val56Ala,ENST00000549970,;FAM216A,downstream_gene_variant,,ENST00000377673,NM_013300.2;SNORD50,downstream_gene_variant,,ENST00000365465,;VPS29,downstream_gene_variant,,ENST00000551655,;VPS29,downstream_gene_variant,,ENST00000548259,;VPS29,downstream_gene_variant,,ENST00000553128,;VPS29,non_coding_transcript_exon_variant,,ENST00000548539,;FAM216A,downstream_gene_variant,,ENST00000538285,;FAM216A,downstream_gene_variant,,ENST00000547539,;FAM216A,downstream_gene_variant,,ENST00000548869,;FAM216A,downstream_gene_variant,,ENST00000546396,;	uc001tqy.2	c.452T>C	518/1523	4	4			c.452T>C						12	SNP	c.(451-453)GTG>GCG	29	29				0	Broad	vacuolar protein sorting 29 isoform 1			110929907		0.328	ENSG00000111237	16946	g.chr12:110929907A>G	protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity							-23.379734	KEEP	2	1	-1	74	51	2	1	-1	6.354116	74	51	0.02521	1	0	0	0	0	1	0	0	0	--	--		0	G			VPS29_uc001tqw.2_RNA|VPS29_uc001tqx.2_Missense_Mutation_p.V155A|VPS29_uc001tqz.2_RNA	130	GBM-12-5299-TP	p.V151A	A	ATCCATCAACACAAATGATGG	NM_016226	NP_057310	110929907	Q9UBQ0	VPS29_HUMAN	0			4	512	-	G	G			Missense_Mutation	151						
VPS33A	0	broad.mit.edu	GRCh37	12	122734578	122734578	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-12-5301-01	TCGA-12-5301-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267199.4:c.615G>C	p.Met205Ile	p.M205I	ENST00000267199	NM_022916.4	205	atG/atC	0			1			G	M/I	uc001ucd.2	protein_coding	YES	CCDS9231.1			615/1791									skin(1)	1	c.(613-615)ATG>ATC			Gene3D:3.40.50.1910,Pfam_domain:PF00995,hmmpanther:PTHR11679,hmmpanther:PTHR11679:SF31,Superfamily_domains:SSF56815	vacuolar protein sorting 33A				ENSP00000267199		13-Jun									COSM3398460	13-Jun	.		ENST00000267199	Transcript			lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	ENSG00000139719	g.chr12:122734578C>G	18179			MODERATE		1.37	low	getma.org/?cm=msa&ty=f&p=VP33A_HUMAN&rb=33&re=591&var=M205I	getma.org/pdb.php?prot=VP33A_HUMAN&from=33&to=591&var=M205I	getma.org/?cm=var&var=hg19,12,122734578,C,G&fts=all	M205I	--	--	1																																		VPS33A_uc001ucc.2_RNA	1	1		benign(0.063)	p.M205I	NM_022916	NP_075067		tolerated(0.13)	1	VP33A_HUMAN	VPS33A	HGNC	Q96AX1	VP33A_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)	Q9H6C4_HUMAN		6	728	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		UPI000000D7AA	205					SNV	VPS33A,missense_variant,p.Met205Ile,ENST00000267199,NM_022916.4;VPS33A,missense_variant,p.Met10Ile,ENST00000536212,;VPS33A,downstream_gene_variant,,ENST00000451053,;VPS33A,non_coding_transcript_exon_variant,,ENST00000540669,;VPS33A,downstream_gene_variant,,ENST00000542310,;VPS33A,upstream_gene_variant,,ENST00000541169,;RP11-512M8.5,missense_variant,p.Met166Ile,ENST00000535844,;VPS33A,3_prime_UTR_variant,,ENST00000543633,;VPS33A,non_coding_transcript_exon_variant,,ENST00000544349,;VPS33A,non_coding_transcript_exon_variant,,ENST00000542790,;	uc001ucd.2	c.615G>C	728/4586	3	3			c.615G>C						12	SNP	c.(613-615)ATG>ATC	1	1			skin(1)	1	Broad	vacuolar protein sorting 33A			122734578		0.383	ENSG00000139719	16947	g.chr12:122734578C>G	lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding							-14.058471	KEEP	1	2	-1	37	57	1	2	-1	7.035942	37	57	0.033708	1	0	0	0	0	1	0	0	0	--	--		0	G			VPS33A_uc001ucc.2_RNA	131	GBM-12-5301-TP	p.M205I	C	TCCTGATCATCATATTGGCCA	NM_022916	NP_075067	122734578	Q96AX1	VP33A_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)	6	728	-	G	G	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		Missense_Mutation	205						
VPS35	55737	broad.mit.edu	GRCh37	16	46694426	46694426	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-06-0216-01	TCGA-06-0216-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299138.7:c.2349A>C	p.Ser783=	p.S783=	ENST00000299138	NM_018206.4	783	tcA/tcC	0			1			G	S	uc002eef.3	protein_coding	YES	CCDS10721.1			2349/2391										0	c.(2347-2349)TCA>TCC			hmmpanther:PTHR11099,PIRSF_domain:PIRSF009375	vacuolar protein sorting 35				ENSP00000299138		17/17									COSM2150930	17/17	.		ENST00000299138	Transcript	1		protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	ENSG00000069329	g.chr16:46694426T>G	13487			LOW								--	--	1																																		VPS35_uc002eed.2_3'UTR|VPS35_uc002eee.2_Silent_p.S744S	1	1			p.S783S	NM_018206	NP_060676			1	VPS35_HUMAN	VPS35	HGNC	Q96QK1	VPS35_HUMAN					17	2448	-		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	UPI0000138BEF	783					SNV	VPS35,synonymous_variant,p.=,ENST00000299138,NM_018206.4;RP11-93O14.2,downstream_gene_variant,,ENST00000569353,;VPS35,3_prime_UTR_variant,,ENST00000568784,;VPS35,downstream_gene_variant,,ENST00000562420,;	uc002eef.3	c.2349A>C	2408/6780	4	4			c.2349A>C						16	SNP	c.(2347-2349)TCA>TCC	30	30				0	Broad	vacuolar protein sorting 35			46694426		0.438	ENSG00000069329	16949	g.chr16:46694426T>G	protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding							78.080869	KEEP	23	8	-1	21	16	23	8	-1	78.26476	21	16	0.438596	1	0	0	0	0	0	0	1	0	--	--		0	G			VPS35_uc002eed.2_3'UTR|VPS35_uc002eee.2_Silent_p.S744S	51	GBM-06-0216-TP	p.S783S	T	CGGATTCTGGTGATTCCCGCC	NM_018206	NP_060676	46694426	Q96QK1	VPS35_HUMAN	0			17	2448	-	G	G		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	Silent	783						
VPS39	0	broad.mit.edu	GRCh37	15	42457929	42457929	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01	TCGA-14-0790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000348544.4:c.1799C>T	p.Ala600Val	p.A600V	ENST00000348544		600	gCt/gTt	0			1			A	A/V	uc001zpd.2	protein_coding					1799/2661									ovary(1)|pancreas(1)|skin(1)	3	c.(1798-1800)GCT>GTT			hmmpanther:PTHR12894,hmmpanther:PTHR12894:SF10,PROSITE_profiles:PS50236	vacuolar protein sorting 39				ENSP00000335193		18/26									COSM3401736,COSM3401737	18/26	.		ENST00000348544	Transcript			protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity	ENSG00000166887	g.chr15:42457929G>A	20593			MODERATE		0.51	neutral	getma.org/?cm=msa&ty=f&p=VPS39_HUMAN&rb=563&re=762&var=A600V	NA	getma.org/?cm=var&var=hg19,15,42457929,G,A&fts=all	A600V	--	--	1																																		VPS39_uc001zpc.2_Missense_Mutation_p.A589V|VPS39_uc001zpb.2_5'UTR	1,1			benign(0.001)	p.A600V	NM_015289	NP_056104		tolerated(1)	1,1	VPS39_HUMAN	VPS39	HGNC	Q96JC1	VPS39_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)			18	1950	-		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	UPI000013E629	600					SNV	VPS39,missense_variant,p.Ala589Val,ENST00000318006,NM_015289.2;VPS39,missense_variant,p.Ala600Val,ENST00000348544,;VPS39,non_coding_transcript_exon_variant,,ENST00000563692,;VPS39,non_coding_transcript_exon_variant,,ENST00000562258,;VPS39,non_coding_transcript_exon_variant,,ENST00000561797,;VPS39,downstream_gene_variant,,ENST00000568029,;VPS39,upstream_gene_variant,,ENST00000564994,;VPS39,upstream_gene_variant,,ENST00000568755,;VPS39,upstream_gene_variant,,ENST00000561818,;VPS39,upstream_gene_variant,,ENST00000562662,;	uc001zpd.2	c.1799C>T	1799/2661	2	2			c.1799C>T						15	SNP	c.(1798-1800)GCT>GTT	18	18			ovary(1)|pancreas(1)|skin(1)	3	Broad	vacuolar protein sorting 39			42457929		0.443	ENSG00000166887	16955	g.chr15:42457929G>A	protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity							240.25885	KEEP	37	45	-1	46	46	37	45	-1	240.398688	46	46	0.467949	1	0	0	0	0	1	0	0	0	--	--		0	A			VPS39_uc001zpc.2_Missense_Mutation_p.A589V|VPS39_uc001zpb.2_5'UTR	137	GBM-14-0790-TP	p.A600V	G	ATAAGGAATAGCCAGACCCTT	NM_015289	NP_056104	42457929	Q96JC1	VPS39_HUMAN	0		GBM - Glioblastoma multiforme(94;3.05e-06)	18	1950	-	A	A		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	Missense_Mutation	600						
VPS41	0	broad.mit.edu	GRCh37	7	38816326	38816326	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310301.4:c.835G>A	p.Asp279Asn	p.D279N	ENST00000310301	NM_014396.3	279	Gat/Aat	0			1			T	D/N	uc003tgy.2	protein_coding	YES	CCDS5457.1			835/2565									skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	c.(835-837)GAT>AAT			hmmpanther:PTHR12616,PIRSF_domain:PIRSF028921	vacuolar protein sorting 41 isoform 1				ENSP00000309457		29-Nov									COSM3412027	29-Nov	.		ENST00000310301	Transcript			Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	ENSG00000006715	g.chr7:38816326C>T	12713			MODERATE		1.185	low	getma.org/?cm=msa&ty=f&p=VPS41_HUMAN&rb=201&re=400&var=D279N	NA	getma.org/?cm=var&var=hg19,7,38816326,C,T&fts=all	D279N	--	--	1																																		VPS41_uc003tgz.2_Missense_Mutation_p.D254N|VPS41_uc010kxn.2_Missense_Mutation_p.D190N	1	1		benign(0.081)	p.D279N	NM_014396	NP_055211		tolerated(0.72)	1	VPS41_HUMAN	VPS41	HGNC	P49754	VPS41_HUMAN			Q75MS2_HUMAN,C9J2U9_HUMAN		11	861	-			UPI000000DAB7	279					SNV	VPS41,missense_variant,p.Asp279Asn,ENST00000310301,NM_014396.3;VPS41,missense_variant,p.Asp254Asn,ENST00000395969,NM_080631.3;VPS41,non_coding_transcript_exon_variant,,ENST00000466017,;VPS41,upstream_gene_variant,,ENST00000485955,;	uc003tgy.2	c.835G>A	890/5903	1	1			c.835G>A						7	SNP	c.(835-837)GAT>AAT	2	2			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Broad	vacuolar protein sorting 41 isoform 1			38816326		0.413	ENSG00000006715	16956	g.chr7:38816326C>T	Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding							41.535051	KEEP	10	8	-1	38	30	10	8	-1	46.121393	38	30	0.236111	1	0	0	0	0	1	0	0	0	--	--		0	T			VPS41_uc003tgz.2_Missense_Mutation_p.D254N|VPS41_uc010kxn.2_Missense_Mutation_p.D190N	159	GBM-19-1390-TP	p.D279N	C	ACAAGCTGATCACAGAGAGGT	NM_014396	NP_055211	38816326	P49754	VPS41_HUMAN	0			11	861	-	T	T			Missense_Mutation	279						
VPS41	0	broad.mit.edu	GRCh37	7	38798055	38798055	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6282-01	TCGA-76-6282-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310301.4:c.1449G>T	p.Trp483Cys	p.W483C	ENST00000310301	NM_014396.3	483	tgG/tgT	0			1			A	W/C	uc003tgy.2	protein_coding	YES	CCDS5457.1			1449/2565									skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	c.(1447-1449)TGG>TGT			hmmpanther:PTHR12616,PIRSF_domain:PIRSF028921	vacuolar protein sorting 41 isoform 1				ENSP00000309457		18/29									COSM3412026	18/29	.		ENST00000310301	Transcript			Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	ENSG00000006715	g.chr7:38798055C>A	12713			MODERATE		3.085	medium	getma.org/?cm=msa&ty=f&p=VPS41_HUMAN&rb=401&re=570&var=W483C	NA	getma.org/?cm=var&var=hg19,7,38798055,C,A&fts=all	W483C	--	--	1																																		VPS41_uc003tgz.2_Missense_Mutation_p.W458C|VPS41_uc010kxn.2_Missense_Mutation_p.W394C	1	1		probably_damaging(0.999)	p.W483C	NM_014396	NP_055211		deleterious(0)	1	VPS41_HUMAN	VPS41	HGNC	P49754	VPS41_HUMAN			Q75MS2_HUMAN,C9J2U9_HUMAN		18	1475	-			UPI000000DAB7	483					SNV	VPS41,missense_variant,p.Trp483Cys,ENST00000310301,NM_014396.3;VPS41,missense_variant,p.Trp458Cys,ENST00000395969,NM_080631.3;VPS41,non_coding_transcript_exon_variant,,ENST00000462429,;	uc003tgy.2	c.1449G>T	1504/5903	1	1			c.1449G>T						7	SNP	c.(1447-1449)TGG>TGT	55	55			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Broad	vacuolar protein sorting 41 isoform 1			38798055		0.328	ENSG00000006715	16956	g.chr7:38798055C>A	Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding							0.475868	KEEP	2	3	0.6	29	35	2	3	0.6	11.020192	29	35	0.083333	1	0	0	0	0	1	0	0	0	--	--		0	A			VPS41_uc003tgz.2_Missense_Mutation_p.W458C|VPS41_uc010kxn.2_Missense_Mutation_p.W394C	278	GBM-76-6282-TP	p.W483C	C	GATCTCCAGGCCATTCTCGGA	NM_014396	NP_055211	38798055	P49754	VPS41_HUMAN	0			18	1475	-	A	A			Missense_Mutation	483						
VPS45	0	broad.mit.edu	GRCh37	1	150049176	150049176	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01	TCGA-76-4926-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369130.3:c.443G>A	p.Arg148Gln	p.R148Q	ENST00000369130	NM_001279354.1	148	cGa/cAa	0	A:0		1			A	R/Q	uc001etp.2	protein_coding	YES	CCDS944.1			443/1713									central_nervous_system(1)|skin(1)	2	c.(442-444)CGA>CAA			Gene3D:3.40.50.1910,Pfam_domain:PF00995,PIRSF_domain:PIRSF005715,hmmpanther:PTHR11679,hmmpanther:PTHR11679:SF3,Superfamily_domains:SSF56815	vacuolar protein sorting 45A			A:0.0001	ENSP00000358126		15-Jun	4.94E-05		8.64E-05			3.00E-05	0.0011	0.000121	rs370166172,COSM3399682	15-Jun	.		ENST00000369130	Transcript	1		blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction		ENSG00000136631	g.chr1:150049176G>A	14579			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=VPS45_HUMAN&rb=22&re=547&var=R148Q	getma.org/pdb.php?prot=VPS45_HUMAN&from=22&to=547&var=R148Q	getma.org/?cm=var&var=hg19,1,150049176,G,A&fts=all	R148Q	--	--	1																																		VPS45_uc010pbp.1_Intron|VPS45_uc010pbq.1_Missense_Mutation_p.R112Q|VPS45_uc010pbs.1_Intron|VPS45_uc001etq.2_5'Flank|VPS45_uc009wlm.1_Intron|VPS45_uc010pbr.1_Missense_Mutation_p.R112Q	0,1	1		benign(0.066)	p.R148Q	NM_007259	NP_009190		tolerated(0.6)	0,1	VPS45_HUMAN	VPS45	HGNC	Q9NRW7	VPS45_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)				6	1016	+	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		UPI00000015E6	148					SNV	VPS45,missense_variant,p.Arg148Gln,ENST00000369130,NM_001279354.1,NM_007259.4;VPS45,intron_variant,,ENST00000369128,NM_001279353.1;VPS45,intron_variant,,ENST00000535106,;VPS45,intron_variant,,ENST00000419023,;VPS45,non_coding_transcript_exon_variant,,ENST00000462852,;VPS45,upstream_gene_variant,,ENST00000477558,;VPS45,downstream_gene_variant,,ENST00000497638,;VPS45,downstream_gene_variant,,ENST00000460366,;	uc001etp.2	c.443G>A	989/2790	2	2			c.443G>A						1	SNP	c.(442-444)CGA>CAA	17	17			central_nervous_system(1)|skin(1)	2	Broad	vacuolar protein sorting 45A			150049176		0.353	ENSG00000136631	16957	g.chr1:150049176G>A	blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction								187.828437	KEEP	36	42	-1	63	59	36	42	-1	189.799025	63	59	0.38764	1	0	0	0	0	1	0	0	0	--	--		0	A			VPS45_uc010pbp.1_Intron|VPS45_uc010pbq.1_Missense_Mutation_p.R112Q|VPS45_uc010pbs.1_Intron|VPS45_uc001etq.2_5'Flank|VPS45_uc009wlm.1_Intron|VPS45_uc010pbr.1_Missense_Mutation_p.R112Q	266	GBM-76-4926-TP	p.R148Q	G	AAAAAGGGTCGAAATTGGGAT	NM_007259	NP_009190	150049176	Q9NRW7	VPS45_HUMAN	0	LUSC - Lung squamous cell carcinoma(543;0.171)		6	1016	+	A	A	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		Missense_Mutation	148						
VPS51	738		GRCh37	11	64876819	64876819	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000279281.3:c.1511C>T	p.Thr504Met	p.T504M	ENST00000279281	NM_013265.3	504	aCg/aTg	0																																																																																																																																																																																																																																												
VPS52	6293	broad.mit.edu	GRCh37	6	33232605	33232605	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0882-01	TCGA-06-0882-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000445902.2:c.1354C>T	p.Arg452Trp	p.R452W	ENST00000445902	NM_022553.4	452	Cgg/Tgg	0			1			A	R/W	uc003odm.1	protein_coding	YES	CCDS4770.2			1354/2172									ovary(4)|skin(1)	5	c.(1354-1356)CGG>TGG			hmmpanther:PTHR14190,Pfam_domain:PF04129	vacuolar protein sorting 52				ENSP00000409952		13/20	2.52E-05					4.73E-05			rs750864533,COSM2152367	13/20	.		ENST00000445902	Transcript			protein transport	endosome membrane|Golgi apparatus		ENSG00000223501	g.chr6:33232605G>A	10518			MODERATE		2.42	medium	getma.org/?cm=msa&ty=f&p=VPS52_HUMAN&rb=94&re=601&var=R452W	NA	getma.org/?cm=var&var=hg19,6,33232605,G,A&fts=all	R452W	--	--	1																																		VPS52_uc003odn.1_Missense_Mutation_p.R263W	0,1	1		probably_damaging(0.995)	p.R452W	NM_022553	NP_072047		deleterious(0)	0,1	VPS52_HUMAN	VPS52	HGNC	Q8N1B4	VPS52_HUMAN			B4DS44_HUMAN,B4DNI9_HUMAN		13	1564	-			UPI000006E468	452					SNV	VPS52,missense_variant,p.Arg452Trp,ENST00000445902,NM_022553.4;VPS52,missense_variant,p.Arg327Trp,ENST00000436044,;VPS52,3_prime_UTR_variant,,ENST00000482399,;VPS52,non_coding_transcript_exon_variant,,ENST00000478934,;VPS52,downstream_gene_variant,,ENST00000464425,;VPS52,downstream_gene_variant,,ENST00000463486,;VPS52,upstream_gene_variant,,ENST00000493674,;VPS52,upstream_gene_variant,,ENST00000495981,;VPS52,upstream_gene_variant,,ENST00000471309,;VPS52,non_coding_transcript_exon_variant,,ENST00000493379,;VPS52,upstream_gene_variant,,ENST00000461743,;VPS52,downstream_gene_variant,,ENST00000495755,;	uc003odm.1	c.1354C>T	1573/2960	2	2			c.1354C>T						6	SNP	c.(1354-1356)CGG>TGG	44	44			ovary(4)|skin(1)	5	Broad	vacuolar protein sorting 52			33232605		0.483	ENSG00000223501	16960	g.chr6:33232605G>A	protein transport	endosome membrane|Golgi apparatus								131.158293	KEEP	26	32	-1	93	97	26	32	-1	147.413971	93	97	0.225532	1	0	0	0	0	1	0	0	0	--	--		0	A			VPS52_uc003odn.1_Missense_Mutation_p.R263W	77	GBM-06-0882-TP	p.R452W	G	TTACGGAACCGGAGAACAATG	NM_022553	NP_072047	33232605	Q8N1B4	VPS52_HUMAN	0			13	1564	-	A	A			Missense_Mutation	452						
VPS53	0	broad.mit.edu	GRCh37	17	440383	440383	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-32-2638-01	TCGA-32-2638-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000571805.1:c.1900C>T	p.Gln634Ter	p.Q634*	ENST00000571805		634	Cag/Tag	0			1			A	Q/*	uc002frn.2	protein_coding					1900/2100										0	c.(1900-1902)CAG>TAG			hmmpanther:PTHR12820:SF0,hmmpanther:PTHR12820	vacuolar protein sorting 53 isoform 2				ENSP00000459312		18/19									COSM3402948,COSM3402947	18/19	.		ENST00000571805	Transcript	1		protein transport	endosome membrane|Golgi apparatus		ENSG00000141252	g.chr17:440383G>A	25608			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,17,440383,G,A&fts=all	Q634*	--	--	1																																		VPS53_uc002frk.2_Nonsense_Mutation_p.Q153*|VPS53_uc010cjo.1_Nonsense_Mutation_p.Q634*|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Nonsense_Mutation_p.Q605*|VPS53_uc002fro.2_Nonsense_Mutation_p.Q436*|VPS53_uc010cjp.1_Nonsense_Mutation_p.Q357*	1,1				p.Q634*	NM_018289	NP_060759			1,1	VPS53_HUMAN	VPS53	HGNC	Q5VIR6	VPS53_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	I3L4P9_HUMAN		18	2047	-			UPI000013ECF4	634					SNV	VPS53,stop_gained,p.Gln634Ter,ENST00000437048,NM_001128159.2;VPS53,stop_gained,p.Gln436Ter,ENST00000446250,;VPS53,stop_gained,p.Gln605Ter,ENST00000291074,NM_018289.3;VPS53,stop_gained,p.Gln634Ter,ENST00000571805,;VPS53,stop_gained,p.Gln357Ter,ENST00000401468,;VPS53,intron_variant,,ENST00000574029,;RP5-1029F21.4,intron_variant,,ENST00000570974,;VPS53,non_coding_transcript_exon_variant,,ENST00000576149,;VPS53,3_prime_UTR_variant,,ENST00000573028,;VPS53,3_prime_UTR_variant,,ENST00000389040,;VPS53,non_coding_transcript_exon_variant,,ENST00000570359,;VPS53,upstream_gene_variant,,ENST00000570771,;	uc002frn.2	c.1900C>T	2037/2356	5	2			c.1900C>T						17	SNP	c.(1900-1902)CAG>TAG	47	47				0	Broad	vacuolar protein sorting 53 isoform 2			440383		0.547	ENSG00000141252	16961	g.chr17:440383G>A	protein transport	endosome membrane|Golgi apparatus								49.5855	KEEP	10	7	-1	23	12	10	7	-1	50.643434	23	12	0.340426	1	0	0	0	0	0	1	0	0	--	--		0	A			VPS53_uc002frk.2_Nonsense_Mutation_p.Q153*|VPS53_uc010cjo.1_Nonsense_Mutation_p.Q634*|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Nonsense_Mutation_p.Q605*|VPS53_uc002fro.2_Nonsense_Mutation_p.Q436*|VPS53_uc010cjp.1_Nonsense_Mutation_p.Q357*	242	GBM-32-2638-TP	p.Q634*	G	TAGGGGCTCTGGTCACCAACG	NM_018289	NP_060759	440383	Q5VIR6	VPS53_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	18	2047	-	A	A			Nonsense_Mutation	634						
VPS54	0	broad.mit.edu	GRCh37	2	64147109	64147109	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0787-01	TCGA-14-0787-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000272322.4:c.2072G>A	p.Arg691His	p.R691H	ENST00000272322		691	cGc/cAc	0			1			T	R/H	uc002scq.2	protein_coding	YES	CCDS33208.1			2072/2934										0	c.(2071-2073)CGC>CAC			hmmpanther:PTHR12965:SF0,hmmpanther:PTHR12965	vacuolar protein sorting 54 isoform 1				ENSP00000272322		15/23	5.77E-05			0.000233	0.000152	3.01E-05		0.000122	rs779279818,COSM3407927	15/23	.		ENST00000272322	Transcript			protein transport|retrograde transport, endosome to Golgi			ENSG00000143952	g.chr2:64147109C>T	18652			MODERATE		2.565	medium	getma.org/?cm=msa&ty=f&p=VPS54_HUMAN&rb=565&re=734&var=R691H	NA	getma.org/?cm=var&var=hg19,2,64147109,C,T&fts=all	R691H	--	--	1																																		VPS54_uc002scp.2_Missense_Mutation_p.R679H|VPS54_uc002scn.2_5'UTR|VPS54_uc002sco.2_Missense_Mutation_p.R176H|VPS54_uc010fct.2_Missense_Mutation_p.R538H	0,1	1		probably_damaging(0.98)	p.R691H	NM_016516	NP_057600		deleterious(0.01)	0,1	VPS54_HUMAN	VPS54	HGNC	Q9P1Q0	VPS54_HUMAN					15	2235	-			UPI0000053408	691					SNV	VPS54,missense_variant,p.Arg679His,ENST00000409558,NM_016516.2,NM_001005739.1;VPS54,missense_variant,p.Arg538His,ENST00000354504,;VPS54,missense_variant,p.Arg691His,ENST00000272322,;VPS54,upstream_gene_variant,,ENST00000416400,;	uc002scq.2	c.2072G>A	2227/3463	2	2			c.2072G>A						2	SNP	c.(2071-2073)CGC>CAC	18	18				0	Broad	vacuolar protein sorting 54 isoform 1			64147109		0.393	ENSG00000143952	16962	g.chr2:64147109C>T	protein transport|retrograde transport, endosome to Golgi									54.773902	KEEP	11	10	-1	11	11	11	10	-1	54.79795	11	11	0.472222	1	0	0	0	0	1	0	0	0	--	--		0	T			VPS54_uc002scp.2_Missense_Mutation_p.R679H|VPS54_uc002scn.2_5'UTR|VPS54_uc002sco.2_Missense_Mutation_p.R176H|VPS54_uc010fct.2_Missense_Mutation_p.R538H	135	GBM-14-0787-TP	p.R691H	C	TTGCTTCCAGCGCTCATTGTC	NM_016516	NP_057600	64147109	Q9P1Q0	VPS54_HUMAN	0			15	2235	-	T	T			Missense_Mutation	691						
VPS72	6944	broad.mit.edu	GRCh37	1	151162515	151162515	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0174-01	TCGA-06-0174-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354473.4:c.83A>G	p.Glu28Gly	p.E28G	ENST00000354473		28	gAg/gGg	0			1			C	E/G	uc001exe.1	protein_coding		CCDS989.1			83/1095									breast(1)|pancreas(1)	2	c.(82-84)GAG>GGG			Pfam_domain:PF05764,hmmpanther:PTHR13275	transcription factor-like 1				ENSP00000357887		6-Jan									COSM3399693	6-Jan	.		ENST00000368892	Transcript			chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000163159	g.chr1:151162515T>C	11644			MODERATE		2.95	medium	getma.org/?cm=msa&ty=f&p=VPS72_HUMAN&rb=4&re=218&var=E28G	NA	getma.org/?cm=var&var=hg19,1,151162515,T,C&fts=all	E28G	--	--	1																																		VPS72_uc001exf.1_Missense_Mutation_p.E28G	1			benign(0.383)	p.E28G	NM_005997	NP_005988		deleterious(0)	1	VPS72_HUMAN	VPS72	HGNC	Q15906	VPS72_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)				1	126	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UPI000013B7A6	28			Asp/Glu-rich (acidic).		SNV	VPS72,missense_variant,p.Glu28Gly,ENST00000368892,NM_001271088.1,NM_001271087.1,NM_005997.2;VPS72,missense_variant,p.Glu28Gly,ENST00000354473,;VPS72,intron_variant,,ENST00000496809,;VPS72,intron_variant,,ENST00000463470,;VPS72,non_coding_transcript_exon_variant,,ENST00000491094,;VPS72,non_coding_transcript_exon_variant,,ENST00000471423,;	uc001exe.1	c.83A>G	175/1527	3	3			c.83A>G						1	SNP	c.(82-84)GAG>GGG	61	61			breast(1)|pancreas(1)	2	Broad	transcription factor-like 1			151162515		0.612	ENSG00000163159	16963	g.chr1:151162515T>C	chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	Pancreas(109;1131 2287 3209 24201)			Pancreas(109;1131 2287 3209 24201)			-48.397559	KEEP	3	1	-1	116	123	3	1	-1	8.546746	116	123	0.018349	1	0	0	0	0	1	0	0	0	--	--		0	C			VPS72_uc001exf.1_Missense_Mutation_p.E28G	37	GBM-06-0174-TP	p.E28G	T	CTGGTAGAACTCATCTTCCTC	NM_005997	NP_005988	151162515	Q15906	VPS72_HUMAN	0	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		1	126	-	C	C	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		Missense_Mutation	28			Asp/Glu-rich (acidic).			
VPS72	0	broad.mit.edu	GRCh37	1	151149180	151149180	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-26-5139-01	TCGA-26-5139-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368892.4:c.1035T>A	p.Pro345=	p.P345=	ENST00000368892	NM_001271088.1	345	ccT/ccA	0			1			T	P	uc001exe.1	protein_coding		CCDS989.1			1035/1095									breast(1)|pancreas(1)	2	c.(1033-1035)CCT>CCA			hmmpanther:PTHR13275,Low_complexity_(Seg):seg	transcription factor-like 1				ENSP00000357887		6-Jun									COSM2157190	6-Jun	.		ENST00000368892	Transcript			chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	ENSG00000163159	g.chr1:151149180A>T	11644			LOW								--	--	1																																		TMOD4_uc001exd.2_5'Flank|TMOD4_uc001exc.3_5'Flank|TMOD4_uc010pct.1_5'Flank	1				p.P345P	NM_005997	NP_005988			1	VPS72_HUMAN	VPS72	HGNC	Q15906	VPS72_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)				6	1078	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UPI000013B7A6	345			Poly-Pro.|Pro-rich.		SNV	VPS72,synonymous_variant,p.=,ENST00000368892,NM_001271088.1,NM_001271087.1,NM_005997.2;VPS72,synonymous_variant,p.=,ENST00000354473,;TMOD4,upstream_gene_variant,,ENST00000295314,NM_013353.2;TMOD4,upstream_gene_variant,,ENST00000416280,;TMOD4,upstream_gene_variant,,ENST00000441701,;TMOD4,upstream_gene_variant,,ENST00000466891,;VPS72,downstream_gene_variant,,ENST00000496809,;TMOD4,upstream_gene_variant,,ENST00000601585,;TMOD4,upstream_gene_variant,,ENST00000488488,;VPS72,non_coding_transcript_exon_variant,,ENST00000491094,;TMOD4,upstream_gene_variant,,ENST00000463543,;	uc001exe.1	c.1035T>A	1127/1527	2	2			c.1035T>A						1	SNP	c.(1033-1035)CCT>CCA	25	25			breast(1)|pancreas(1)	2	Broad	transcription factor-like 1			151149180		0.572	ENSG00000163159	16963	g.chr1:151149180A>T	chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	Pancreas(109;1131 2287 3209 24201)			Pancreas(109;1131 2287 3209 24201)			216.857788	KEEP	63	50	-1	77	96	63	50	-1	219.915735	77	96	0.384615	1	0	0	0	0	0	0	1	0	--	--		0	T			TMOD4_uc001exd.2_5'Flank|TMOD4_uc001exc.3_5'Flank|TMOD4_uc010pct.1_5'Flank	186	GBM-26-5139-TP	p.P345P	A	GGGGCTCAGGAGGTGGCGGGC	NM_005997	NP_005988	151149180	Q15906	VPS72_HUMAN	0	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		6	1078	-	T	T	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		Silent	345			Poly-Pro.|Pro-rich.			
VPS8	23355	broad.mit.edu	GRCh37	3	184714255	184714255	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01	TCGA-06-0743-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000437079.3:c.3802C>T	p.Arg1268Cys	p.R1268C	ENST00000437079	NM_001009921.2	1268	Cgc/Tgc	0	T:0	T:0.0008	1	T:0		T	R/C	uc003fpb.1	protein_coding	YES	CCDS46971.1			3802/4287									ovary(1)	1	c.(3796-3798)CGC>TGC			PROSITE_profiles:PS50089,hmmpanther:PTHR12816,hmmpanther:PTHR12816:SF19,Gene3D:3.30.40.10,SMART_domains:SM00184,Superfamily_domains:SSF57850	vacuolar protein sorting 8 homolog isoform b		T:0	T:0.0001	ENSP00000397879	T:0	44/48	0.000174	0.000102		0.000116		7.53E-05		0.000891	rs200270246,COSM3331690,COSM3408489	44/48	common_variant		ENST00000437079	Transcript		T:0.0004			zinc ion binding	ENSG00000156931	g.chr3:184714255C>T	29122			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=VPS8_HUMAN&rb=1197&re=1396&var=R1268C	NA	getma.org/?cm=var&var=hg19,3,184714255,C,T&fts=all	R1268C	--	--	1																																		VPS8_uc010hyd.1_Missense_Mutation_p.R1176C|VPS8_uc010hye.1_Missense_Mutation_p.R695C	0,1,1	1		possibly_damaging(0.453)	p.R1266C	NM_015303	NP_056118	T:0.001	deleterious(0.01)	0,1,1	VPS8_HUMAN	VPS8	HGNC	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		C9JPI1_HUMAN,C9JKL0_HUMAN,C9JIA0_HUMAN		43	3967	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		UPI0000160BDC	1268			RING-type; atypical.		SNV	VPS8,missense_variant,p.Arg1268Cys,ENST00000437079,NM_001009921.2;VPS8,missense_variant,p.Arg1268Cys,ENST00000287546,NM_015303.3;VPS8,missense_variant,p.Arg1266Cys,ENST00000436792,;VPS8,missense_variant,p.Arg1176Cys,ENST00000446204,;VPS8,non_coding_transcript_exon_variant,,ENST00000492449,;VPS8,non_coding_transcript_exon_variant,,ENST00000488255,;	uc003fpb.1	c.3796C>T	3973/5047	2	2			c.3796C>T						3	SNP	c.(3796-3798)CGC>TGC	44	44			ovary(1)	1	Broad	vacuolar protein sorting 8 homolog isoform b			184714255		0.413	ENSG00000156931	16964	g.chr3:184714255C>T			zinc ion binding							116.274313	KEEP	15	30	-1	32	45	15	30	-1	117.769534	32	45	0.373832	1	0	0	0	0	1	0	0	0	--	--		0	T			VPS8_uc010hyd.1_Missense_Mutation_p.R1176C|VPS8_uc010hye.1_Missense_Mutation_p.R695C	65	GBM-06-0743-TP	p.R1266C	C	GTACAAGAGACGCCAAGAAAT	NM_015303	NP_056118	184714255	Q8N3P4	VPS8_HUMAN	0	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		43	3967	+	T	T	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Missense_Mutation	1268			RING-type; atypical.			
VPS8	23355	broad.mit.edu	GRCh37	3	184571960	184571960	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000437079.3:c.1034G>A	p.Arg345Gln	p.R345Q	ENST00000437079	NM_001009921.2	345	cGg/cAg	0	A:0		1			A	R/Q	uc003fpb.1	protein_coding	YES	CCDS46971.1			1034/4287									ovary(1)	1	c.(1027-1029)CGG>CAG			hmmpanther:PTHR12816,hmmpanther:PTHR12816:SF19,Superfamily_domains:SSF50969	vacuolar protein sorting 8 homolog isoform b			A:0.0001	ENSP00000397879		13/48	1.65E-05	0.000102				1.51E-05			rs201816956,COSM2151841,COSM3408486	13/48	.		ENST00000437079	Transcript					zinc ion binding	ENSG00000156931	g.chr3:184571960G>A	29122			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=VPS8_HUMAN&rb=201&re=400&var=R345Q	NA	getma.org/?cm=var&var=hg19,3,184571960,G,A&fts=all	R345Q	--	--	1																																		VPS8_uc010hyd.1_Missense_Mutation_p.R343Q	0,1,1	1		benign(0.006)	p.R343Q	NM_015303	NP_056118		tolerated(0.16)	0,1,1	VPS8_HUMAN	VPS8	HGNC	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		C9JPI1_HUMAN,C9JKL0_HUMAN,C9JIA0_HUMAN		12	1199	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		UPI0000160BDC	345					SNV	VPS8,missense_variant,p.Arg345Gln,ENST00000287546,NM_015303.3;VPS8,missense_variant,p.Arg345Gln,ENST00000437079,NM_001009921.2;VPS8,missense_variant,p.Arg343Gln,ENST00000436792,;VPS8,missense_variant,p.Arg343Gln,ENST00000446204,;VPS8,splice_region_variant,,ENST00000465818,;VPS8,downstream_gene_variant,,ENST00000469713,;VPS8,upstream_gene_variant,,ENST00000465213,;VPS8,downstream_gene_variant,,ENST00000469479,;VPS8,downstream_gene_variant,,ENST00000452666,;	uc003fpb.1	c.1028G>A	1205/5047	1	1			c.1028G>A						3	SNP	c.(1027-1029)CGG>CAG	64	64			ovary(1)	1	Broad	vacuolar protein sorting 8 homolog isoform b			184571960		0.413	ENSG00000156931	16964	g.chr3:184571960G>A			zinc ion binding							106.900018	KEEP	16	19	-1	20	21	16	19	-1	106.928972	20	21	0.477612	1	0	0	0	0	1	0	0	0	--	--		0	A			VPS8_uc010hyd.1_Missense_Mutation_p.R343Q	68	GBM-06-0747-TP	p.R343Q	G	CCCTATGGCCGGGTGAGTACG	NM_015303	NP_056118	184571960	Q8N3P4	VPS8_HUMAN	0	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		12	1199	+	A	A	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Missense_Mutation	345						
VPS8	0	broad.mit.edu	GRCh37	3	184648300	184648300	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01	TCGA-14-1825-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000437079.3:c.2842G>A	p.Gly948Arg	p.G948R	ENST00000437079	NM_001009921.2	948	Gga/Aga	0			1			A	G/R	uc003fpb.1	protein_coding	YES	CCDS46971.1			2842/4287									ovary(1)	1	c.(2836-2838)GGA>AGA			hmmpanther:PTHR12816,hmmpanther:PTHR12816:SF19	vacuolar protein sorting 8 homolog isoform b				ENSP00000397879		34/48	8.27E-06	0.000102							rs766714213,COSM3408487,COSM3408488	34/48	.		ENST00000437079	Transcript					zinc ion binding	ENSG00000156931	g.chr3:184648300G>A	29122			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=VPS8_HUMAN&rb=797&re=996&var=G948R	NA	getma.org/?cm=var&var=hg19,3,184648300,G,A&fts=all	G948R	--	--	1																																		VPS8_uc010hyd.1_Missense_Mutation_p.G856R|VPS8_uc010hye.1_Missense_Mutation_p.G375R	0,1,1	1		benign(0.16)	p.G946R	NM_015303	NP_056118		tolerated(0.13)	0,1,1	VPS8_HUMAN	VPS8	HGNC	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		C9JPI1_HUMAN,C9JKL0_HUMAN,C9JIA0_HUMAN		33	3007	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		UPI0000160BDC	948					SNV	VPS8,missense_variant,p.Gly948Arg,ENST00000437079,NM_001009921.2;VPS8,missense_variant,p.Gly948Arg,ENST00000287546,NM_015303.3;VPS8,missense_variant,p.Gly946Arg,ENST00000436792,;VPS8,missense_variant,p.Gly856Arg,ENST00000446204,;VPS8,non_coding_transcript_exon_variant,,ENST00000463687,;VPS8,non_coding_transcript_exon_variant,,ENST00000492449,;VPS8,downstream_gene_variant,,ENST00000452140,;	uc003fpb.1	c.2836G>A	3013/5047	2	2			c.2836G>A						3	SNP	c.(2836-2838)GGA>AGA	47	47			ovary(1)	1	Broad	vacuolar protein sorting 8 homolog isoform b			184648300		0.393	ENSG00000156931	16964	g.chr3:184648300G>A			zinc ion binding							396.684275	KEEP	73	57	-1	41	33	73	57	-1	399.891449	41	33	0.642458	1	0	0	0	0	1	0	0	0	--	--		0	A			VPS8_uc010hyd.1_Missense_Mutation_p.G856R|VPS8_uc010hye.1_Missense_Mutation_p.G375R	148	GBM-14-1825-TP	p.G946R	G	ATCCATTCCCGGACACAGTGC	NM_015303	NP_056118	184648300	Q8N3P4	VPS8_HUMAN	0	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		33	3007	+	A	A	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Missense_Mutation	948						
VPS8	0	broad.mit.edu	GRCh37	3	184543975	184543975	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-2494-01	TCGA-32-2494-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000437079.3:c.178C>G	p.Pro60Ala	p.P60A	ENST00000437079	NM_001009921.2	60	Cct/Gct	0			1			G	P/A	uc003fpb.1	protein_coding	YES	CCDS46971.1			178/4287									ovary(1)	1	c.(178-180)CCT>GCT			hmmpanther:PTHR12816,hmmpanther:PTHR12816:SF19	vacuolar protein sorting 8 homolog isoform b				ENSP00000397879		Mar-48									COSM3408484,COSM3408485	Mar-48	.		ENST00000437079	Transcript					zinc ion binding	ENSG00000156931	g.chr3:184543975C>G	29122			MODERATE		1.73	low	getma.org/?cm=msa&ty=f&p=VPS8_HUMAN&rb=1&re=200&var=P60A	NA	getma.org/?cm=var&var=hg19,3,184543975,C,G&fts=all	P60A	--	--	1																																		VPS8_uc010hyd.1_Missense_Mutation_p.P60A|VPS8_uc003fpc.1_Missense_Mutation_p.P60A	1,1	1		probably_damaging(0.99)	p.P60A	NM_015303	NP_056118		deleterious(0)	1,1	VPS8_HUMAN	VPS8	HGNC	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		C9JPI1_HUMAN,C9JKL0_HUMAN,C9JIA0_HUMAN		3	349	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		UPI0000160BDC	60					SNV	VPS8,missense_variant,p.Pro60Ala,ENST00000437079,NM_001009921.2;VPS8,missense_variant,p.Pro60Ala,ENST00000287546,NM_015303.3;VPS8,missense_variant,p.Pro60Ala,ENST00000436792,;VPS8,missense_variant,p.Pro60Ala,ENST00000446204,;VPS8,missense_variant,p.Pro60Ala,ENST00000424463,;VPS8,missense_variant,p.Pro60Ala,ENST00000422105,;VPS8,missense_variant,p.Pro60Ala,ENST00000453056,;VPS8,missense_variant,p.Pro60Ala,ENST00000445089,;VPS8,missense_variant,p.Pro60Ala,ENST00000441141,;VPS8,missense_variant,p.Pro9Ala,ENST00000452666,;VPS8,3_prime_UTR_variant,,ENST00000424721,;	uc003fpb.1	c.178C>G	349/5047	4	4			c.178C>G						3	SNP	c.(178-180)CCT>GCT	30	30			ovary(1)	1	Broad	vacuolar protein sorting 8 homolog isoform b			184543975		0.318	ENSG00000156931	16964	g.chr3:184543975C>G			zinc ion binding							72.382864	KEEP	7	18	-1	19	29	7	18	-1	73.616057	19	29	0.344828	1	0	0	0	0	1	0	0	0	--	--		0	G			VPS8_uc010hyd.1_Missense_Mutation_p.P60A|VPS8_uc003fpc.1_Missense_Mutation_p.P60A	236	GBM-32-2494-TP	p.P60A	C	GTTTGATATTCCTCAAGTTGA	NM_015303	NP_056118	184543975	Q8N3P4	VPS8_HUMAN	0	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		3	349	+	G	G	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Missense_Mutation	60						
VPS8	23355		GRCh37	3	184552450	184552450	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000437079.3:c.368del	p.Pro123LeufsTer16	p.P123Lfs*16	ENST00000437079	NM_001009921.2	123	Cct/ct	0																																																																																																																																																																																																																																												
VRTN	55237	broad.mit.edu	GRCh37	14	74824348	74824348	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0189-01	TCGA-06-0189-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256362.4:c.862C>T	p.Arg288Cys	p.R288C	ENST00000256362	NM_018228.2	288	Cgc/Tgc	0			1			T	R/C	uc001xpw.3	protein_coding	YES	CCDS9830.1			862/2109										0	c.(862-864)CGC>TGC			hmmpanther:PTHR16081:SF0,hmmpanther:PTHR16081,Gene3D:1.10.10.60,Pfam_domain:PF01527,Superfamily_domains:SSF48295	hypothetical protein LOC55237				ENSP00000256362		2-Feb	0.000453			0.000348	0.00348	0.000409	0.00222		rs200794001,COSM3401463	2-Feb	common_variant		ENST00000256362	Transcript			transposition, DNA-mediated		DNA binding|transposase activity	ENSG00000133980	g.chr14:74824348C>T	20223			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=VRTN_HUMAN&rb=273&re=325&var=R288C	NA	getma.org/?cm=var&var=hg19,14,74824348,C,T&fts=all	R288C	--	--	1																																			0,1	1		probably_damaging(0.977)	p.R288C	NM_018228	NP_060698		deleterious(0)	0,1	VRTN_HUMAN	VRTN	HGNC	Q9H8Y1	VRTN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00147)	G3V537_HUMAN		2	1053	+			UPI00000737D5	288					SNV	VRTN,missense_variant,p.Arg288Cys,ENST00000256362,NM_018228.2;VRTN,downstream_gene_variant,,ENST00000557177,;	uc001xpw.3	c.862C>T	1103/3466	1	1			c.862C>T						14	SNP	c.(862-864)CGC>TGC	1	1				0	Broad	hypothetical protein LOC55237			74824348		0.647	ENSG00000133980	1703	g.chr14:74824348C>T	transposition, DNA-mediated		DNA binding|transposase activity							1.90367	KEEP	5	5	-1	56	47	5	5	-1	17.585161	56	47	0.094737	1	0	0	0	0	1	0	0	0	--	--		0	T				42	GBM-06-0189-TP	p.R288C	C	CCTCTGTGAGCGCTACAGCGT	NM_018228	NP_060698	74824348	Q9H8Y1	VRTN_HUMAN	0		BRCA - Breast invasive adenocarcinoma(234;0.00147)	2	1053	+	T	T			Missense_Mutation	288						
VRTN	0	broad.mit.edu	GRCh37	14	74823988	74823988	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-12-3649-01	TCGA-12-3649-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000256362.4:c.502A>G	p.Ser168Gly	p.S168G	ENST00000256362	NM_018228.2	168	Agc/Ggc	0			1			G	S/G	uc001xpw.3	protein_coding	YES	CCDS9830.1			502/2109										0	c.(502-504)AGC>GGC			hmmpanther:PTHR16081:SF0,hmmpanther:PTHR16081	hypothetical protein LOC55237				ENSP00000256362		2-Feb									COSM3401462	2-Feb	.		ENST00000256362	Transcript			transposition, DNA-mediated		DNA binding|transposase activity	ENSG00000133980	g.chr14:74823988A>G	20223			MODERATE		-0.55	neutral	getma.org/?cm=msa&ty=f&p=VRTN_HUMAN&rb=1&re=259&var=S168G	NA	getma.org/?cm=var&var=hg19,14,74823988,A,G&fts=all	S168G	--	--	1																																			1	1		benign(0.079)	p.S168G	NM_018228	NP_060698		tolerated(1)	1	VRTN_HUMAN	VRTN	HGNC	Q9H8Y1	VRTN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00147)	G3V537_HUMAN		2	693	+			UPI00000737D5	168					SNV	VRTN,missense_variant,p.Ser168Gly,ENST00000256362,NM_018228.2;VRTN,downstream_gene_variant,,ENST00000557177,;	uc001xpw.3	c.502A>G	743/3466	3	3			c.502A>G						14	SNP	c.(502-504)AGC>GGC	56	56				0	Broad	hypothetical protein LOC55237			74823988		0.597	ENSG00000133980	1703	g.chr14:74823988A>G	transposition, DNA-mediated		DNA binding|transposase activity							98.987689	KEEP	23	15	-1	39	27	23	15	-1	100.753379	39	27	0.357143	1	0	0	0	0	1	0	0	0	--	--		0	G				125	GBM-12-3649-TP	p.S168G	A	CTGTTTCCCCAGCAGCTTCTC	NM_018228	NP_060698	74823988	Q9H8Y1	VRTN_HUMAN	0		BRCA - Breast invasive adenocarcinoma(234;0.00147)	2	693	+	G	G			Missense_Mutation	168						
VRTN	55237		GRCh37	14	74825422	74825422	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000256362.4:c.1936A>G	p.Ile646Val	p.I646V	ENST00000256362	NM_018228.2	646	Atc/Gtc	0																																																																																																																																																																																																																																												
VSIG10	0	broad.mit.edu	GRCh37	12	118517207	118517207	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-12-3652-01	TCGA-12-3652-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359236.5:c.869G>T	p.Cys290Phe	p.C290F	ENST00000359236	NM_019086.5	290	tGt/tTt	0			1			A	C/F	uc001tws.2	protein_coding	YES	CCDS44992.1			869/1623										0	c.(868-870)TGT>TTT			Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF516,Superfamily_domains:SSF48726	V-set and immunoglobulin domain containing 10				ENSP00000352172		9-Apr									COSM3398413	9-Apr	.		ENST00000359236	Transcript				integral to membrane		ENSG00000176834	g.chr12:118517207C>A	26078			MODERATE		2.6	medium	getma.org/?cm=msa&ty=f&p=VSI10_HUMAN&rb=223&re=309&var=C290F	NA	getma.org/?cm=var&var=hg19,12,118517207,C,A&fts=all	C290F	--	--	1																																			1	1		probably_damaging(1)	p.C290F	NM_019086	NP_061959		deleterious(0)	1	VSI10_HUMAN	VSIG10	HGNC	Q8N0Z9	VSI10_HUMAN					4	1203	-			UPI000007385F	290			Ig-like C2-type 3.|Extracellular (Potential).		SNV	VSIG10,missense_variant,p.Cys290Phe,ENST00000359236,NM_019086.5;VSIG10,missense_variant,p.Cys189Phe,ENST00000538357,;VSIG10,downstream_gene_variant,,ENST00000536905,;VSIG10,downstream_gene_variant,,ENST00000545722,;	uc001tws.2	c.869G>T	1146/4946	2	2			c.869G>T						12	SNP	c.(868-870)TGT>TTT	30	30				0	Broad	V-set and immunoglobulin domain containing 10			118517207		0.542	ENSG00000176834	16969	g.chr12:118517207C>A		integral to membrane								119.398644	KEEP	27	12	0.307692308	17	18	27	12	0.307692308	119.480525	17	18	0.536232	1	0	0	0	0	1	0	0	0	--	--		0	A				127	GBM-12-3652-TP	p.C290F	C	GCTTGTAACACACTTGAACTT	NM_019086	NP_061959	118517207	Q8N0Z9	VSI10_HUMAN	0			4	1203	-	A	A			Missense_Mutation	290			Ig-like C2-type 3.|Extracellular (Potential).			
VSIG10	54621		GRCh37	12	118509166	118509166	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000359236.5:c.1328A>C	p.Lys443Thr	p.K443T	ENST00000359236	NM_019086.5	443	aAa/aCa	0																																																																																																																																																																																																																																												
VSIG4	11326		GRCh37	X	65242302	65242302	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000374737.4:c.1003A>G	p.Arg335Gly	p.R335G	ENST00000374737	NM_001257403.1	335	Agg/Ggg	0																																																																																																																																																																																																																																												
VSIG8	0	broad.mit.edu	GRCh37	1	159827989	159827989	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	rs138280068		TCGA-76-6193-01	TCGA-76-6193-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368100.1:c.321C>G	p.Tyr107Ter	p.Y107*	ENST00000368100	NM_001013661.1	107	taC/taG	0			1			C	Y/*	uc001fuh.2	protein_coding	YES	CCDS30913.1			321/1245									central_nervous_system(1)	1	c.(319-321)TAC>TAG			Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF75,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726	V-set and immunoglobulin domain containing 8				ENSP00000357080		7-Mar									COSM3399876	7-Mar	.		ENST00000368100	Transcript				integral to membrane		ENSG00000243284	g.chr1:159827989G>C	32063			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,159827989,G,C&fts=all	Y107*	--	--	1																																		C1orf204_uc001fug.1_5'Flank	1	1			p.Y107*	NM_001013661	NP_001013683			1	VSIG8_HUMAN	VSIG8	HGNC	Q5VU13	VSIG8_HUMAN					3	457	-	all_hematologic(112;0.0597)		UPI0000458A8F	107			Extracellular (Potential).|Ig-like V-type 1.		SNV	VSIG8,stop_gained,p.Tyr107Ter,ENST00000368100,NM_001013661.1;C1orf204,upstream_gene_variant,,ENST00000368102,NM_001134233.1;C1orf204,upstream_gene_variant,,ENST00000491974,;RP11-190A12.7,missense_variant,p.Thr55Arg,ENST00000536779,;RP11-190A12.7,3_prime_UTR_variant,,ENST00000536764,;RP11-190A12.7,3_prime_UTR_variant,,ENST00000544342,;RP11-190A12.7,non_coding_transcript_exon_variant,,ENST00000537167,;RP11-190A12.7,non_coding_transcript_exon_variant,,ENST00000543372,;	uc001fuh.2	c.321C>G	457/1818	5	3			c.321C>G						1	SNP	c.(319-321)TAC>TAG	7	7			central_nervous_system(1)	1	Broad	V-set and immunoglobulin domain containing 8			159827989		0.542	ENSG00000243284	16972	g.chr1:159827989G>C		integral to membrane								11.18412	KEEP	4	4	-1	33	41	4	4	-1	20.101609	33	41	0.114754	1	0	0	0	0	0	1	0	0	--	--		0	C			C1orf204_uc001fug.1_5'Flank	276	GBM-76-6193-TP	p.Y107*	G	TGGAGGCATCGTACTGGCTTG	NM_001013661	NP_001013683	159827989	Q5VU13	VSIG8_HUMAN	0			3	457	-	C	C	all_hematologic(112;0.0597)		Nonsense_Mutation	107			Extracellular (Potential).|Ig-like V-type 1.			
VSTM2A	222008	broad.mit.edu	GRCh37	7	54612435	54612435	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01	TCGA-06-0174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000407838.3:c.200G>A	p.Arg67Gln	p.R67Q	ENST00000407838	NM_182546.2	67	cGg/cAg	0			1			A	R/Q	uc010kzf.2	protein_coding	YES	CCDS5512.2			200/711										0	c.(199-201)CGG>CAG			PROSITE_profiles:PS50835,hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF19,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726	V-set and transmembrane domain containing 2				ENSP00000384967		5-Feb									COSM3412163,COSM3412164	5-Feb	.		ENST00000407838	Transcript				extracellular region		ENSG00000170419	g.chr7:54612435G>A	28499			MODERATE		1.65	low	getma.org/?cm=msa&ty=f&p=VTM2A_HUMAN&rb=26&re=147&var=R67Q	NA	getma.org/?cm=var&var=hg19,7,54612435,G,A&fts=all	R67Q	--	--	1																																		VSTM2A_uc010kze.2_Missense_Mutation_p.R67Q|VSTM2A_uc003tqc.3_Missense_Mutation_p.R67Q	1,1	1		possibly_damaging(0.621)	p.R67Q	NM_182546	NP_872352		deleterious(0.01)	1,1	VTM2A_HUMAN	VSTM2A	HGNC	Q8TAG5	VTM2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.0525)				2	605	+			UPI0000EE7EC1	67			Ig-like V-type.		SNV	VSTM2A,missense_variant,p.Arg67Gln,ENST00000302287,;VSTM2A,missense_variant,p.Arg66Gln,ENST00000402026,;VSTM2A,missense_variant,p.Arg67Gln,ENST00000407838,NM_182546.2;VSTM2A,missense_variant,p.Arg67Gln,ENST00000404951,;VSTM2A,missense_variant,p.Arg67Gln,ENST00000402613,;VSTM2A,upstream_gene_variant,,ENST00000498834,;VSTM2A,upstream_gene_variant,,ENST00000466888,;VSTM2A,upstream_gene_variant,,ENST00000469952,;VSTM2A,non_coding_transcript_exon_variant,,ENST00000495904,;	uc010kzf.2	c.200G>A	606/3112	1	1			c.200G>A						7	SNP	c.(199-201)CGG>CAG	64	64				0	Broad	V-set and transmembrane domain containing 2			54612435		0.716	ENSG00000170419	16975	g.chr7:54612435G>A		extracellular region								52.122275	KEEP	11	9	-1	25	27	11	9	-1	54.874747	25	27	0.28125	1	0	0	0	0	1	0	0	0	--	--		0	A			VSTM2A_uc010kze.2_Missense_Mutation_p.R67Q|VSTM2A_uc003tqc.3_Missense_Mutation_p.R67Q	37	GBM-06-0174-TP	p.R67Q	G	TGGTTCCTGCGGGGGCCGGAG	NM_182546	NP_872352	54612435	Q8TAG5	VTM2A_HUMAN	0	STAD - Stomach adenocarcinoma(5;0.0525)		2	605	+	A	A			Missense_Mutation	67			Ig-like V-type.			
VSTM4	0	broad.mit.edu	GRCh37	10	50285318	50285318	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01	TCGA-12-1597-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332853.4:c.580C>T	p.Leu194Phe	p.L194F	ENST00000332853	NM_001031746.3	194	Ctc/Ttc	0			1			A	L/F	uc001jhf.2	protein_coding	YES	CCDS31198.1			580/963										0	c.(580-582)CTC>TTC			Transmembrane_helices:TMhelix,hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF8	hypothetical protein LOC196740 isoform 1				ENSP00000331062		8-Apr									COSM3397149	8-Apr	.		ENST00000332853	Transcript				integral to membrane|plasma membrane		ENSG00000165633	g.chr10:50285318G>A	26470			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=VSTM4_HUMAN&rb=1&re=200&var=L194F	NA	getma.org/?cm=var&var=hg19,10,50285318,G,A&fts=all	L194F	--	--	1																																			1	1		probably_damaging(0.998)	p.L194F	NM_001031746	NP_001026916		deleterious(0.04)	1	VSTM4_HUMAN	VSTM4	HGNC	Q8IW00	CJ072_HUMAN					4	609	-			UPI00001B01E4	194			Helical; (Potential).		SNV	VSTM4,missense_variant,p.Leu194Phe,ENST00000332853,NM_001031746.3;VSTM4,non_coding_transcript_exon_variant,,ENST00000476018,;	uc001jhf.2	c.580C>T	604/6392	1	1			c.580C>T						10	SNP	c.(580-582)CTC>TTC	60	60				0	Broad	hypothetical protein LOC196740 isoform 1			50285318		0.532	ENSG00000165633	1580	g.chr10:50285318G>A		integral to membrane|plasma membrane								129.623419	KEEP	22	21	-1	10	5	22	21	-1	132.349694	10	5	0.75	1	0	0	0	0	1	0	0	0	--	--		0	A				124	GBM-12-1597-TP	p.L194F	G	AGCATGAAGAGCAGAATGCTG	NM_001031746	NP_001026916	50285318	Q8IW00	CJ072_HUMAN	0			4	609	-	A	A			Missense_Mutation	194			Helical; (Potential).			
VTCN1	79679	broad.mit.edu	GRCh37	1	117699295	117699295	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01	TCGA-06-0876-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369458.3:c.346C>T	p.Arg116Trp	p.R116W	ENST00000369458	NM_024626.3	116	Cgg/Tgg	0			1			A	R/W	uc001ehb.2	protein_coding	YES	CCDS894.1			346/849										0	c.(346-348)CGG>TGG			Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF0,SMART_domains:SM00409,Superfamily_domains:SSF48726	V-set domain containing T cell activation				ENSP00000358470		6-Mar	4.12E-05					3.00E-05	0.0011	0.000122	rs773228516,COSM202075	6-Mar	.		ENST00000369458	Transcript				integral to membrane|plasma membrane		ENSG00000134258	g.chr1:117699295G>A	28873			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=VTCN1_HUMAN&rb=36&re=150&var=R116W	getma.org/pdb.php?prot=VTCN1_HUMAN&from=36&to=150&var=R116W	getma.org/?cm=var&var=hg19,1,117699295,G,A&fts=all	R116W	--	--	1																																		VTCN1_uc001ehc.2_Missense_Mutation_p.R21W|VTCN1_uc009whf.1_Intron	0,1	1		benign(0.009)	p.R116W	NM_024626	NP_078902		deleterious(0.02)	0,1	VTCN1_HUMAN	VTCN1	HGNC	Q7Z7D3	VTCN1_HUMAN		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)			3	418	-	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)	UPI00000389E3	116			Ig-like V-type 1.|Extracellular (Potential).		SNV	VTCN1,missense_variant,p.Arg116Trp,ENST00000369458,NM_024626.3;VTCN1,missense_variant,p.Arg119Trp,ENST00000359008,;VTCN1,missense_variant,p.Arg21Trp,ENST00000539893,NM_001253849.1;VTCN1,intron_variant,,ENST00000328189,NM_001253850.1;VTCN1,non_coding_transcript_exon_variant,,ENST00000463461,;VTCN1,non_coding_transcript_exon_variant,,ENST00000488493,;	uc001ehb.2	c.346C>T	425/2612	2	2			c.346C>T						1	SNP	c.(346-348)CGG>TGG	24	24				0	Broad	V-set domain containing T cell activation			117699295		0.458	ENSG00000134258	16980	g.chr1:117699295G>A		integral to membrane|plasma membrane								-22.410661	KEEP	3	2	-1	71	61	3	2	-1	7.527929	71	61	0.032	1	0	0	0	0	1	0	0	0	--	--		0	A			VTCN1_uc001ehc.2_Missense_Mutation_p.R21W|VTCN1_uc009whf.1_Intron	72	GBM-06-0876-TP	p.R116W	G	TTTTTCAGCCGCAAAGAGGCA	NM_024626	NP_078902	117699295	Q7Z7D3	VTCN1_HUMAN	0		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)	3	418	-	A	A	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)	Missense_Mutation	116			Ig-like V-type 1.|Extracellular (Potential).			
VTCN1	0	broad.mit.edu	GRCh37	1	117699373	117699373	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0740-01	TCGA-14-0740-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369458.3:c.268C>T	p.Leu90=	p.L90=	ENST00000369458	NM_024626.3	90	Ctg/Ttg	0			1			A	L	uc001ehb.2	protein_coding	YES	CCDS894.1			268/849										0	c.(268-270)CTG>TTG			Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF0,SMART_domains:SM00409,Superfamily_domains:SSF48726	V-set domain containing T cell activation				ENSP00000358470		6-Mar									COSM3399585	6-Mar	.		ENST00000369458	Transcript				integral to membrane|plasma membrane		ENSG00000134258	g.chr1:117699373G>A	28873			LOW								--	--	1																																		VTCN1_uc001ehc.2_5'UTR|VTCN1_uc009whf.1_Intron	1	1			p.L90L	NM_024626	NP_078902			1	VTCN1_HUMAN	VTCN1	HGNC	Q7Z7D3	VTCN1_HUMAN		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)			3	340	-	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)	UPI00000389E3	90			Ig-like V-type 1.|Extracellular (Potential).		SNV	VTCN1,synonymous_variant,p.=,ENST00000369458,NM_024626.3;VTCN1,synonymous_variant,p.=,ENST00000359008,;VTCN1,5_prime_UTR_variant,,ENST00000539893,NM_001253849.1;VTCN1,intron_variant,,ENST00000328189,NM_001253850.1;VTCN1,non_coding_transcript_exon_variant,,ENST00000463461,;VTCN1,non_coding_transcript_exon_variant,,ENST00000488493,;	uc001ehb.2	c.268C>T	347/2612	1	1			c.268C>T						1	SNP	c.(268-270)CTG>TTG	63	63				0	Broad	V-set domain containing T cell activation			117699373		0.458	ENSG00000134258	16980	g.chr1:117699373G>A		integral to membrane|plasma membrane								202.454695	KEEP	23	53	-1	37	32	23	53	-1	202.461643	37	32	0.507692	1	0	0	0	0	0	0	1	0	--	--		0	A			VTCN1_uc001ehc.2_5'UTR|VTCN1_uc009whf.1_Intron	132	GBM-14-0740-TP	p.L90L	G	TGCTCCGACAGCTCATCTTTG	NM_024626	NP_078902	117699373	Q7Z7D3	VTCN1_HUMAN	0		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)	3	340	-	A	A	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)	Silent	90			Ig-like V-type 1.|Extracellular (Potential).			
VTCN1	79679		GRCh37	1	117690323	117690323	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000369458.3:c.806G>T	p.Ser269Ile	p.S269I	ENST00000369458	NM_024626.3	269	aGc/aTc	0																																																																																																																																																																																																																																												
VWA3A	146177	broad.mit.edu	GRCh37	16	22142922	22142922	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01	TCGA-06-0173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389398.5:c.1744C>T	p.Arg582Trp	p.R582W	ENST00000389398	NM_173615.3	582	Cgg/Tgg	0			1			T	R/W	uc010vbq.1	protein_coding	YES	CCDS45441.1			1744/3555									skin(1)	1	c.(1744-1746)CGG>TGG			Pfam_domain:PF13768,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF105,Superfamily_domains:SSF53300	von Willebrand factor A domain containing 3A				ENSP00000374049		19/34	4.96E-05		0.000277			3.12E-05			rs746722541,COSM2150413	19/34	.		ENST00000389398	Transcript				extracellular region		ENSG00000175267	g.chr16:22142922C>T	27088			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=VWA3A_HUMAN&rb=510&re=659&var=R582W	NA	getma.org/?cm=var&var=hg19,16,22142922,C,T&fts=all	R582W	--	--	1																																		VWA3A_uc010bxd.2_RNA|VWA3A_uc010bxc.2_Missense_Mutation_p.R590W	0,1	1		possibly_damaging(0.901)	p.R582W	NM_173615	NP_775886		deleterious(0)	0,1	VWA3A_HUMAN	VWA3A	HGNC	A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	H3BTX3_HUMAN		19	1840	+			UPI0001663067	582			VWFA 1.		SNV	VWA3A,missense_variant,p.Arg582Trp,ENST00000389398,NM_173615.3;VWA3A,missense_variant,p.Arg603Trp,ENST00000568328,;VWA3A,5_prime_UTR_variant,,ENST00000389397,;VWA3A,upstream_gene_variant,,ENST00000563389,;VWA3A,missense_variant,p.Arg192Trp,ENST00000299840,;VWA3A,non_coding_transcript_exon_variant,,ENST00000566668,;	uc010vbq.1	c.1744C>T	1840/4600	1	1			c.1744C>T						16	SNP	c.(1744-1746)CGG>TGG	7	7			skin(1)	1	Broad	von Willebrand factor A domain containing 3A			22142922		0.577	ENSG00000175267	16985	g.chr16:22142922C>T		extracellular region								28.343334	KEEP	6	5	-1	8	12	6	5	-1	28.741852	8	12	0.37037	1	0	0	0	0	1	0	0	0	--	--		0	T			VWA3A_uc010bxd.2_RNA|VWA3A_uc010bxc.2_Missense_Mutation_p.R590W	36	GBM-06-0173-TP	p.R582W	C	CCTGAACCTGCGGTGTCGGGG	NM_173615	NP_775886	22142922	A6NCI4	VWA3A_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0439)	19	1840	+	T	T			Missense_Mutation	582			VWFA 1.			
VWA3A	146177		GRCh37	16	22149825	22149825	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000389398.5:c.2284G>A	p.Ala762Thr	p.A762T	ENST00000389398	NM_173615.3	762	Gcc/Acc	0																																																																																																																																																																																																																																												
VWA3A	146177		GRCh37	16	22137566	22137566	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000389398.5:c.1600C>T	p.Arg534Trp	p.R534W	ENST00000389398	NM_173615.3	534	Cgg/Tgg	0																																																																																																																																																																																																																																												
VWA7	0	broad.mit.edu	GRCh37	6	31742303	31742303	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-32-2495-01	TCGA-32-2495-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375688.4:c.711G>T	p.Pro237=	p.P237=	ENST00000375688		237	ccG/ccT	0			1			A	P	uc011dog.1	protein_coding	YES	CCDS4721.2			711/2676									ovary(3)	3	c.(709-711)CCG>CCT			hmmpanther:PTHR14905:SF9,hmmpanther:PTHR14905	G7c protein precursor				ENSP00000364840		17-May									COSM3410946	17-May	.		ENST00000375688	Transcript				extracellular region		ENSG00000204396	g.chr6:31742303C>A	13939			LOW								--	--	1																																		C6orf27_uc003nxd.2_5'UTR|C6orf27_uc011doh.1_RNA	1	1			p.P237P	NM_025258	NP_079534			1	VWA7_HUMAN	VWA7	HGNC	Q9Y334	G7C_HUMAN					5	949	-			UPI0000E5AD19	237					SNV	VWA7,synonymous_variant,p.=,ENST00000375686,NM_025258.2;VWA7,synonymous_variant,p.=,ENST00000375688,;VWA7,synonymous_variant,p.=,ENST00000447450,;VARS,downstream_gene_variant,,ENST00000375663,NM_006295.2;Y_RNA,downstream_gene_variant,,ENST00000364685,;VWA7,non_coding_transcript_exon_variant,,ENST00000467576,;VWA7,upstream_gene_variant,,ENST00000487013,;VWA7,downstream_gene_variant,,ENST00000497645,;VARS,downstream_gene_variant,,ENST00000470953,;VARS,downstream_gene_variant,,ENST00000463184,;	uc011dog.1	c.711G>T	912/2881	2	2			c.711G>T						6	SNP	c.(709-711)CCG>CCT	24	24			ovary(3)	3	Broad	G7c protein precursor			31742303		0.542	ENSG00000204396	2314	g.chr6:31742303C>A		extracellular region								-4.655689	KEEP	4	1	0.2	44	30	4	1	0.2	8.11631	44	30	0.0625	1	0	0	0	0	0	0	1	0	--	--		0	A			C6orf27_uc003nxd.2_5'UTR|C6orf27_uc011doh.1_RNA	237	GBM-32-2495-TP	p.P237P	C	CTGGAGGTTTCGGGGGATGAG	NM_025258	NP_079534	31742303	Q9Y334	G7C_HUMAN	0			5	949	-	A	A			Silent	237						
VWA8	0	broad.mit.edu	GRCh37	13	42481750	42481750	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0618-01	TCGA-12-0618-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379310.3:c.455G>A	p.Arg152His	p.R152H	ENST00000379310	NM_015058.1	152	cGt/cAt	0		T:0	1	T:0		T	R/H	uc001uyj.2	protein_coding	YES	CCDS41881.1			455/5718									ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6	c.(454-456)CGT>CAT			hmmpanther:PTHR21610,hmmpanther:PTHR21610:SF9,Pfam_domain:PF07728,Gene3D:3.40.50.300,Superfamily_domains:SSF52540	hypothetical protein LOC23078 isoform a		T:0		ENSP00000368612	T:0.001	Apr-45	8.24E-06					1.50E-05			rs200022468,COSM3399372	Apr-45	.		ENST00000379310	Transcript		T:0.0002		extracellular region	ATP binding|ATPase activity	ENSG00000102763	g.chr13:42481750C>T	29071			MODERATE		1.285	low	getma.org/?cm=msa&ty=f&p=K0564_HUMAN&rb=105&re=261&var=R152H	NA	getma.org/?cm=var&var=hg19,13,42481750,C,T&fts=all	R152H	--	--	1																																		KIAA0564_uc001uyk.2_Missense_Mutation_p.R152H	0,1	1		benign(0.045)	p.R152H	NM_015058	NP_055873	T:0	deleterious(0.02)	0,1	VWA8_HUMAN	VWA8	HGNC	A3KMH1	K0564_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)			4	525	-		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)	UPI00001606AC	152					SNV	VWA8,missense_variant,p.Arg152His,ENST00000379310,NM_015058.1;VWA8,missense_variant,p.Arg152His,ENST00000281496,NM_001009814.1;RNU6-74P,downstream_gene_variant,,ENST00000384235,;	uc001uyj.2	c.455G>A	524/7147	1	1			c.455G>A						13	SNP	c.(454-456)CGT>CAT	16	16			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6	Broad	hypothetical protein LOC23078 isoform a			42481750		0.458	ENSG00000102763	8046	g.chr13:42481750C>T		extracellular region	ATP binding|ATPase activity							-39.674478	KEEP	3	5	-1	123	120	3	5	-1	13.366718	123	120	0.031674	1	0	0	0	0	1	0	0	0	--	--		0	T			KIAA0564_uc001uyk.2_Missense_Mutation_p.R152H	119	GBM-12-0618-TP	p.R152H	C	TGTGCCTGCACGGATCTCTCG	NM_015058	NP_055873	42481750	A3KMH1	K0564_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)	4	525	-	T	T		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)	Missense_Mutation	152						
VWA8	0	broad.mit.edu	GRCh37	13	42142433	42142433	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-1991-01	TCGA-32-1991-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379310.3:c.5618G>T	p.Arg1873Ile	p.R1873I	ENST00000379310	NM_015058.1	1873	aGa/aTa	0			1			A	R/I	uc001uyj.2	protein_coding	YES	CCDS41881.1			5618/5718									ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6	c.(5617-5619)AGA>ATA			PROSITE_profiles:PS50234,hmmpanther:PTHR21610,hmmpanther:PTHR21610:SF9,Pfam_domain:PF13519,SMART_domains:SM00327,Superfamily_domains:SSF53300	hypothetical protein LOC23078 isoform a				ENSP00000368612		45/45									COSM3399371	45/45	.		ENST00000379310	Transcript				extracellular region	ATP binding|ATPase activity	ENSG00000102763	g.chr13:42142433C>A	29071			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=K0564_HUMAN&rb=1714&re=1896&var=R1873I	NA	getma.org/?cm=var&var=hg19,13,42142433,C,A&fts=all	R1873I	--	--	1																																			1	1		possibly_damaging(0.653)	p.R1873I	NM_015058	NP_055873		deleterious(0.01)	1	VWA8_HUMAN	VWA8	HGNC	A3KMH1	K0564_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)			45	5688	-		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)	UPI00001606AC	1873			VWFA.		SNV	VWA8,missense_variant,p.Arg1873Ile,ENST00000379310,NM_015058.1;MIR5006,non_coding_transcript_exon_variant,,ENST00000583027,;	uc001uyj.2	c.5618G>T	5687/7147	1	1			c.5618G>T						13	SNP	c.(5617-5619)AGA>ATA	49	49			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6	Broad	hypothetical protein LOC23078 isoform a			42142433		0.502	ENSG00000102763	8046	g.chr13:42142433C>A		extracellular region	ATP binding|ATPase activity							-19.776058	KEEP	2	1	0.333333333	60	61	2	1	0.333333333	6.496824	60	61	0.028037	1	0	0	0	0	1	0	0	0	--	--		0	A				234	GBM-32-1991-TP	p.R1873I	C	TGGTAAAGTTCTCTGAAGCCT	NM_015058	NP_055873	42142433	A3KMH1	K0564_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)	45	5688	-	A	A		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)	Missense_Mutation	1873			VWFA.			
VWCE	220001		GRCh37	11	61032003	61032003	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000335613.5:c.2186C>T	p.Ala729Val	p.A729V	ENST00000335613	NM_152718.2	729	gCc/gTc	0																																																																																																																																																																																																																																												
VWF	7450	broad.mit.edu	GRCh37	12	6122757	6122757	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0157-01	TCGA-06-0157-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261405.5:c.5510G>A	p.Arg1837Gln	p.R1837Q	ENST00000261405	NM_000552.3	1837	cGg/cAg	0			1			T	R/Q	uc001qnn.1	protein_coding	YES	CCDS8539.1			5510/8442									skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12	c.(5509-5511)CGG>CAG			Gene3D:3.40.50.410,Pfam_domain:PF00092,PIRSF_domain:PIRSF002495,PROSITE_profiles:PS50234,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF259,SMART_domains:SM00327,Superfamily_domains:SSF53300	von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)			ENSP00000261405		32/52	4.12E-05		0.000432						rs545304154,COSM2150072	32/52	common_variant		ENST00000261405	Transcript	1		blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	ENSG00000110799	g.chr12:6122757C>T	12726			MODERATE		1.675	low	getma.org/?cm=msa&ty=f&p=VWF_HUMAN&rb=1691&re=1863&var=R1837Q	getma.org/pdb.php?prot=VWF_HUMAN&from=1691&to=1863&var=R1837Q	getma.org/?cm=var&var=hg19,12,6122757,C,T&fts=all	R1837Q	--	--	1																																		VWF_uc010set.1_Intron	0,1	1		benign(0.229)	p.R1837Q	NM_000552	NP_000543		deleterious(0.04)	0,1	VWF_HUMAN	VWF	HGNC	P04275	VWF_HUMAN			H2DLA2_HUMAN		32	5760	-			UPI00001AE7EE	1837			VWFA 3; main binding site for collagens type I and III.		SNV	VWF,missense_variant,p.Arg1837Gln,ENST00000261405,NM_000552.3;VWF,intron_variant,,ENST00000538635,;	uc001qnn.1	c.5510G>A	5765/8838	1	1			c.5510G>A						12	SNP	c.(5509-5511)CGG>CAG	13	13			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12	Broad	von Willebrand factor preproprotein		Antihemophilic Factor(DB00025)	6122757		0.532	ENSG00000110799	16991	g.chr12:6122757C>T	blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding							103.028651	KEEP	21	24	-1	42	34	21	24	-1	104.609126	42	34	0.361702	1	0	0	0	0	1	0	0	0	--	--		0	T			VWF_uc010set.1_Intron	28	GBM-06-0157-TP	p.R1837Q	C	TGCCAAGATCCGTAGCTGGGC	NM_000552	NP_000543	6122757	P04275	VWF_HUMAN	0			32	5760	-	T	T			Missense_Mutation	1837			VWFA 3; main binding site for collagens type I and III.			
VWF	0	broad.mit.edu	GRCh37	12	6127617	6127617	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01	TCGA-12-0618-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261405.5:c.4967C>T	p.Thr1656Met	p.T1656M	ENST00000261405	NM_000552.3	1656	aCg/aTg	0			1			A	T/M	uc001qnn.1	protein_coding	YES	CCDS8539.1			4967/8442									skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12	c.(4966-4968)ACG>ATG			Gene3D:3.40.50.410,PIRSF_domain:PIRSF002495,PROSITE_profiles:PS50234,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF259,SMART_domains:SM00327,Superfamily_domains:SSF53300,Superfamily_domains:SSF53300	von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)			ENSP00000261405		28/52	8.24E-06							6.17E-05	rs773544469,COSM2153614	28/52	.		ENST00000261405	Transcript	1		blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	ENSG00000110799	g.chr12:6127617G>A	12726			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=VWF_HUMAN&rb=1498&re=1659&var=T1656M	getma.org/pdb.php?prot=VWF_HUMAN&from=1498&to=1659&var=T1656M	getma.org/?cm=var&var=hg19,12,6127617,G,A&fts=all	T1656M	--	--	1																																		VWF_uc010set.1_Intron	0,1	1		possibly_damaging(0.615)	p.T1656M	NM_000552	NP_000543		tolerated(0.15)	0,1	VWF_HUMAN	VWF	HGNC	P04275	VWF_HUMAN			H2DLA2_HUMAN		28	5217	-			UPI00001AE7EE	1656			VWFA 2.		SNV	VWF,missense_variant,p.Thr1656Met,ENST00000261405,NM_000552.3;VWF,intron_variant,,ENST00000538635,;VWF,downstream_gene_variant,,ENST00000539641,;	uc001qnn.1	c.4967C>T	5222/8838	2	2			c.4967C>T						12	SNP	c.(4966-4968)ACG>ATG	42	42			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12	Broad	von Willebrand factor preproprotein		Antihemophilic Factor(DB00025)	6127617		0.632	ENSG00000110799	16991	g.chr12:6127617G>A	blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding							115.544947	KEEP	20	22	-1	31	30	20	22	-1	116.081488	31	30	0.417582	1	0	0	0	0	1	0	0	0	--	--		0	A			VWF_uc010set.1_Intron	119	GBM-12-0618-TP	p.T1656M	G	TCGGGGGAGCGTCTCAAAGTC	NM_000552	NP_000543	6127617	P04275	VWF_HUMAN	0			28	5217	-	A	A			Missense_Mutation	1656			VWFA 2.			
VWF	0	broad.mit.edu	GRCh37	12	6058287	6058287	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01	TCGA-16-1045-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261405.5:c.8336C>T	p.Thr2779Met	p.T2779M	ENST00000261405	NM_000552.3	2779	aCg/aTg	0	A:0		1			A	T/M	uc001qnn.1	protein_coding	YES	CCDS8539.1			8336/8442									skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12	c.(8335-8337)ACG>ATG			PIRSF_domain:PIRSF002495,PROSITE_patterns:PS01185,PROSITE_profiles:PS01225,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF259,SMART_domains:SM00041	von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)		A:0.0001	ENSP00000261405		52/52	4.12E-05		0.000348			1.51E-05			rs374314985,COSM3398969	52/52	.		ENST00000261405	Transcript	1		blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	ENSG00000110799	g.chr12:6058287G>A	12726			MODERATE		2.955	medium	getma.org/?cm=msa&ty=f&p=VWF_HUMAN&rb=2724&re=2812&var=T2779M	NA	getma.org/?cm=var&var=hg19,12,6058287,G,A&fts=all	T2779M	--	--	1																																		ANO2_uc001qnm.2_5'Flank|VWF_uc010set.1_3'UTR	0,1	1		probably_damaging(0.93)	p.T2779M	NM_000552	NP_000543		deleterious(0.01)	0,1	VWF_HUMAN	VWF	HGNC	P04275	VWF_HUMAN			H2DLA2_HUMAN		52	8586	-			UPI00001AE7EE	2779			CTCK.		SNV	VWF,missense_variant,p.Thr2779Met,ENST00000261405,NM_000552.3;ANO2,upstream_gene_variant,,ENST00000546188,;ANO2,upstream_gene_variant,,ENST00000327087,NM_001278596.1,NM_001278597.1;ANO2,upstream_gene_variant,,ENST00000356134,;	uc001qnn.1	c.8336C>T	8591/8838	1	1			c.8336C>T						12	SNP	c.(8335-8337)ACG>ATG	51	51			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12	Broad	von Willebrand factor preproprotein		Antihemophilic Factor(DB00025)	6058287		0.562	ENSG00000110799	16991	g.chr12:6058287G>A	blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding							25.89366	KEEP	8	7	-1	34	45	8	7	-1	35.639873	34	45	0.159091	1	0	0	0	0	1	0	0	0	--	--		0	A			ANO2_uc001qnm.2_5'Flank|VWF_uc010set.1_3'UTR	157	GBM-16-1045-TP	p.T2779M	G	CATGGGCTCCGTCCGTGTCGG	NM_000552	NP_000543	6058287	P04275	VWF_HUMAN	0			52	8586	-	A	A			Missense_Mutation	2779			CTCK.			
VWF	0	broad.mit.edu	GRCh37	12	6153612	6153612	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01	TCGA-19-1790-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261405.5:c.2287A>G	p.Arg763Gly	p.R763G	ENST00000261405	NM_000552.3	763	Agg/Ggg	0			1			C	R/G	uc001qnn.1	protein_coding	YES	CCDS8539.1			2287/8442						not_provided			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12	c.(2287-2289)AGG>GGG			PIRSF_domain:PIRSF002495,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF259	von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)			ENSP00000261405		18/52									rs61748469,VWF_c.2287A>G,COSM3747931	18/52	.		ENST00000261405	Transcript	1		blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	ENSG00000110799	g.chr12:6153612T>C	12726			MODERATE		2.39	medium	getma.org/?cm=msa&ty=f&p=VWF_HUMAN&rb=708&re=775&var=R763G	NA	getma.org/?cm=var&var=hg19,12,6153612,T,C&fts=all	R763G	--	--	1																																		VWF_uc010set.1_Intron	1,0,1	1		possibly_damaging(0.775)	p.R763G	NM_000552	NP_000543		deleterious(0)	0,0,1	VWF_HUMAN	VWF	HGNC	P04275	VWF_HUMAN			H2DLA2_HUMAN		18	2537	-			UPI00001AE7EE	763					SNV	VWF,missense_variant,p.Arg763Gly,ENST00000261405,NM_000552.3;VWF,intron_variant,,ENST00000538635,;	uc001qnn.1	c.2287A>G	2542/8838	4	4			c.2287A>G						12	SNP	c.(2287-2289)AGG>GGG	46	46			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12	Broad	von Willebrand factor preproprotein		Antihemophilic Factor(DB00025)	6153612		0.522	ENSG00000110799	16991	g.chr12:6153612T>C	blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding							-4.136824	KEEP	2	2	-1	24	29	2	2	-1	6.381597	24	29	0.058824	1	0	0	0	0	1	0	0	0	--	--		0	C			VWF_uc010set.1_Intron	160	GBM-19-1790-TP	p.R763G	T	GATAGGCTCCTTTTGCCTCGA	NM_000552	NP_000543	6153612	P04275	VWF_HUMAN	0			18	2537	-	C	C			Missense_Mutation	763						
VWF	0	broad.mit.edu	GRCh37	12	6128359	6128359	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-2571-01	TCGA-41-2571-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261405.5:c.4225G>A	p.Val1409Ile	p.V1409I	ENST00000261405	NM_000552.3	1409	Gtc/Atc	0			1			T	V/I	uc001qnn.1	protein_coding	YES	CCDS8539.1			4225/8442									skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12	c.(4225-4227)GTC>ATC			Gene3D:3.40.50.410,Pfam_domain:PF00092,PIRSF_domain:PIRSF002495,PROSITE_profiles:PS50234,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF259,Low_complexity_(Seg):seg,SMART_domains:SM00327,Superfamily_domains:SSF53300	von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)			ENSP00000261405		28/52									COSM3398971	28/52	.		ENST00000261405	Transcript	1		blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	ENSG00000110799	g.chr12:6128359C>T	12726			MODERATE		1.81	low	getma.org/?cm=msa&ty=f&p=VWF_HUMAN&rb=1277&re=1454&var=V1409I	getma.org/pdb.php?prot=VWF_HUMAN&from=1277&to=1454&var=V1409I	getma.org/?cm=var&var=hg19,12,6128359,C,T&fts=all	V1409I	--	--	1																																		VWF_uc010set.1_Intron	1	1		possibly_damaging(0.661)	p.V1409I	NM_000552	NP_000543		tolerated(1)	1	VWF_HUMAN	VWF	HGNC	P04275	VWF_HUMAN			H2DLA2_HUMAN		28	4475	-			UPI00001AE7EE	1409			VWFA 1; binding site for platelet glycoprotein Ib.		SNV	VWF,missense_variant,p.Val1409Ile,ENST00000261405,NM_000552.3;VWF,intron_variant,,ENST00000538635,;VWF,downstream_gene_variant,,ENST00000539641,;	uc001qnn.1	c.4225G>A	4480/8838	2	2			c.4225G>A						12	SNP	c.(4225-4227)GTC>ATC	26	26			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12	Broad	von Willebrand factor preproprotein		Antihemophilic Factor(DB00025)	6128359		0.607	ENSG00000110799	16991	g.chr12:6128359C>T	blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding							151.188116	KEEP	31	27	-1	55	39	31	27	-1	152.830966	55	39	0.382353	1	0	0	0	0	1	0	0	0	--	--		0	T			VWF_uc010set.1_Intron	250	GBM-41-2571-TP	p.V1409I	C	ATCACAATGACCTTCTTCTTC	NM_000552	NP_000543	6128359	P04275	VWF_HUMAN	0			28	4475	-	T	T			Missense_Mutation	1409			VWFA 1; binding site for platelet glycoprotein Ib.			
VWF	0	broad.mit.edu	GRCh37	12	6138532	6138532	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-2573-01	TCGA-41-2573-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261405.5:c.2943C>T	p.Ser981=	p.S981=	ENST00000261405	NM_000552.3	981	tcC/tcT	0	A:0.0002		1			A	S	uc001qnn.1	protein_coding	YES	CCDS8539.1			2943/8442									skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12	c.(2941-2943)TCC>TCT			Pfam_domain:PF00094,PIRSF_domain:PIRSF002495,PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF259,SMART_domains:SM00216	von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)		A:0.0001	ENSP00000261405		22/52	0.000181	9.65E-05	8.64E-05			0.00018	0.00111	0.000424	rs369031938,COSM3398973	22/52	common_variant		ENST00000261405	Transcript	1		blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	ENSG00000110799	g.chr12:6138532G>A	12726			LOW								--	--	1																																		VWF_uc010set.1_Intron	0,1	1			p.S981S	NM_000552	NP_000543			0,1	VWF_HUMAN	VWF	HGNC	P04275	VWF_HUMAN			H2DLA2_HUMAN		22	3193	-			UPI00001AE7EE	981			VWFD 3.		SNV	VWF,synonymous_variant,p.=,ENST00000261405,NM_000552.3;VWF,intron_variant,,ENST00000538635,;	uc001qnn.1	c.2943C>T	3198/8838	2	2			c.2943C>T						12	SNP	c.(2941-2943)TCC>TCT	17	17			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12	Broad	von Willebrand factor preproprotein		Antihemophilic Factor(DB00025)	6138532		0.522	ENSG00000110799	16991	g.chr12:6138532G>A	blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding							145.525379	KEEP	27	25	-1	46	41	27	25	-1	147.047909	46	41	0.380165	1	0	0	0	0	0	0	1	0	--	--		0	A			VWF_uc010set.1_Intron	252	GBM-41-2573-TP	p.S981S	G	TCAGGACCACGGAGATGCTCA	NM_000552	NP_000543	6138532	P04275	VWF_HUMAN	0			22	3193	-	A	A			Silent	981			VWFD 3.			
VWF	7450		GRCh37	12	6128780	6128780	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000261405.5:c.3804C>T	p.His1268=	p.H1268=	ENST00000261405	NM_000552.3	1268	caC/caT	0																																																																																																																																																																																																																																												
WARS	0	broad.mit.edu	GRCh37	14	100808747	100808747	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-4157-01	TCGA-14-4157-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355338.2:c.1101G>T	p.Gln367His	p.Q367H	ENST00000355338	NM_173701.1	367	caG/caT	0			1			A	Q/H	uc001yhf.1	protein_coding	YES	CCDS9960.1			1101/1416									breast(1)	1	c.(1099-1101)CAG>CAT			hmmpanther:PTHR10055:SF1,hmmpanther:PTHR10055,Pfam_domain:PF00579,Gene3D:1.10.240.10,TIGRFAM_domain:TIGR00233,Superfamily_domains:SSF52374	tryptophanyl-tRNA synthetase isoform a	L-Tryptophan(DB00150)			ENSP00000347495		11-Sep									COSM697101	11-Sep	.		ENST00000355338	Transcript			angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	ENSG00000140105	g.chr14:100808747C>A	12729			MODERATE		3.8	high	getma.org/?cm=msa&ty=f&p=SYWC_HUMAN&rb=151&re=443&var=Q367H	getma.org/pdb.php?prot=SYWC_HUMAN&from=151&to=443&var=Q367H	getma.org/?cm=var&var=hg19,14,100808747,C,A&fts=all	Q367H	--	--	1																																		WARS_uc001yhe.1_Missense_Mutation_p.Q173H|WARS_uc001yhg.1_Missense_Mutation_p.Q367H|WARS_uc001yhh.1_Missense_Mutation_p.Q367H|WARS_uc001yhi.1_Missense_Mutation_p.Q326H|WARS_uc001yhj.1_Missense_Mutation_p.Q326H|WARS_uc001yhk.1_Missense_Mutation_p.Q326H|WARS_uc001yhl.1_Missense_Mutation_p.Q367H	1	1		possibly_damaging(0.88)	p.Q367H	NM_173701	NP_776049		deleterious(0)	1	SYWC_HUMAN	WARS	HGNC	P23381	SYWC_HUMAN			P78534_HUMAN,G3V5W1_HUMAN,G3V5U1_HUMAN,G3V5H5_HUMAN,G3V4S4_HUMAN,G3V4N8_HUMAN,G3V4C7_HUMAN,G3V456_HUMAN,G3V423_HUMAN,G3V3Y5_HUMAN,G3V3X0_HUMAN,G3V3S7_HUMAN,G3V3R3_HUMAN,G3V3P2_HUMAN,G3V3H8_HUMAN,G3V339_HUMAN,G3V313_HUMAN,G3V2F2_HUMAN,G3V2C0_HUMAN,G3V277_HUMAN,G3V227_HUMAN,B4DTK8_HUMAN		8	1185	-		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)	UPI0000000E0E	367					SNV	WARS,missense_variant,p.Gln367His,ENST00000355338,NM_173701.1;WARS,missense_variant,p.Gln367His,ENST00000392882,NM_004184.3;WARS,missense_variant,p.Gln326His,ENST00000344102,NM_213646.1;WARS,missense_variant,p.Gln326His,ENST00000556645,;WARS,missense_variant,p.Gln326His,ENST00000358655,NM_213645.1;WARS,missense_variant,p.Gln367His,ENST00000557135,;WARS,missense_variant,p.Gln120His,ENST00000554601,;WARS,downstream_gene_variant,,ENST00000556504,;WARS,downstream_gene_variant,,ENST00000553395,;RP11-638I2.8,intron_variant,,ENST00000557226,;RP11-638I2.9,downstream_gene_variant,,ENST00000556212,;WARS,non_coding_transcript_exon_variant,,ENST00000554950,;WARS,non_coding_transcript_exon_variant,,ENST00000557614,;	uc001yhf.1	c.1101G>T	1720/3092	2	2			c.1101G>T						14	SNP	c.(1099-1101)CAG>CAT	32	32			breast(1)	1	Broad	tryptophanyl-tRNA synthetase isoform a		L-Tryptophan(DB00150)	100808747		0.622	ENSG00000140105	16994	g.chr14:100808747C>A	angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity							-5.159768	KEEP	2	2	0.5	31	51	2	2	0.5	8.43618	31	51	0.059701	1	0	0	0	0	1	0	0	0	--	--		0	A			WARS_uc001yhe.1_Missense_Mutation_p.Q173H|WARS_uc001yhg.1_Missense_Mutation_p.Q367H|WARS_uc001yhh.1_Missense_Mutation_p.Q367H|WARS_uc001yhi.1_Missense_Mutation_p.Q326H|WARS_uc001yhj.1_Missense_Mutation_p.Q326H|WARS_uc001yhk.1_Missense_Mutation_p.Q326H|WARS_uc001yhl.1_Missense_Mutation_p.Q367H	152	GBM-14-4157-TP	p.Q367H	C	TGGTTTTGATCTGCTTGGCCG	NM_173701	NP_776049	100808747	P23381	SYWC_HUMAN	0			8	1185	-	A	A		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)	Missense_Mutation	367						
WAS	0	broad.mit.edu	GRCh37	X	48545194	48545194	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-19-5951-01	TCGA-19-5951-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376701.4:c.584T>G	p.Leu195Arg	p.L195R	ENST00000376701	NM_000377.2	195	cTg/cGg	0			1			G	L/R	uc004dkm.3	protein_coding	YES	CCDS14303.1			584/1509	Mis|N|F|S			lymphoma					ovary(1)	1	c.(583-585)CTG>CGG			Low_complexity_(Seg):seg,hmmpanther:PTHR12779:SF2,hmmpanther:PTHR12779	Wiskott-Aldrich syndrome protein				ENSP00000365891		12-Jul									COSM2156618	12-Jul	.	Wiskott-Aldrich_syndrome	ENST00000376701	Transcript	1		blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity	ENSG00000015285	g.chrX:48545194T>G	12731			MODERATE		1.73	low	getma.org/?cm=msa&ty=f&p=WASP_HUMAN&rb=146&re=236&var=L195R	NA	getma.org/?cm=var&var=hg19,X,48545194,T,G&fts=all	L195R	--	--	1																																			1	1		possibly_damaging(0.878)	p.L195R	NM_000377	NP_000368		deleterious(0.02)	1	WASP_HUMAN	WAS	HGNC	P42768	WASP_HUMAN			C9J3B7_HUMAN		7	641	+		all_lung(315;1.27e-10)	UPI000003CA0A	195					SNV	WAS,missense_variant,p.Leu195Arg,ENST00000376701,NM_000377.2;WAS,missense_variant,p.Leu195Arg,ENST00000450772,;WAS,non_coding_transcript_exon_variant,,ENST00000483750,;WAS,intron_variant,,ENST00000465982,;WAS,intron_variant,,ENST00000490627,;WAS,upstream_gene_variant,,ENST00000474174,;WAS,upstream_gene_variant,,ENST00000470107,;	uc004dkm.3	c.584T>G	659/1849	3	3			c.584T>G	Mis|N|F|S			lymphoma		23	SNP	c.(583-585)CTG>CGG	1	1			ovary(1)	1	Broad	Wiskott-Aldrich syndrome protein			48545194	Wiskott-Aldrich_syndrome	0.582	ENSG00000015285	16996	g.chrX:48545194T>G	blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			57			57	123.873323	KEEP	18	31	-1	38	35	18	31	-1	124.749593	38	35	0.4	1	0	0	0	0	1	0	0	0	--	--		0	G				171	GBM-19-5951-TP	p.L195R	T	CCGCTCTCCCTGGGGCTGGCG	NM_000377	NP_000368	48545194	P42768	WASP_HUMAN	0			7	641	+	G	G		all_lung(315;1.27e-10)	Missense_Mutation	195						
WASF3	0	broad.mit.edu	GRCh37	13	27256966	27256967	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C			TCGA-12-0821-01	TCGA-12-0821-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335327.5:c.1211dupC	p.Pro405AlafsTer22	p.P405Afs*22	ENST00000335327	NM_006646.5	402	-/C	0			1			C	-/X	uc001uqv.2	protein_coding	YES	CCDS9318.1			1206-1207/1509									pancreas(1)	1	c.(1204-1209)CCTCCCfs			Low_complexity_(Seg):seg,hmmpanther:PTHR12902:SF7,hmmpanther:PTHR12902	WAS protein family, member 3				ENSP00000335055		10-Sep										10-Sep	.		ENST00000335327	Transcript			actin filament polymerization	cytoplasm|cytoskeleton	actin binding	ENSG00000132970	g.chr13:27256966_27256967insC	12734	5		HIGH								--	--	1																																		WASF3_uc001uqw.2_Frame_Shift_Ins_p.P399fs		1			p.P402fs	NM_006646	NP_006637				WASF3_HUMAN	WASF3	HGNC	Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	Q5T8P4_HUMAN,B4DGR1_HUMAN		9	1431_1432	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	UPI000013CEA7	402_403			Poly-Pro.		insertion	WASF3,frameshift_variant,p.Pro402AlafsTer22,ENST00000361042,;WASF3,frameshift_variant,p.Pro405AlafsTer22,ENST00000335327,NM_006646.5;	uc001uqv.2	c.1206_1207insC	1384-1385/4790	5	5			c.1206_1207insC						13	INS	c.(1204-1209)CCTCCCfs	1	1			pancreas(1)	1	Broad	WAS protein family, member 3			27256967		0.708	ENSG00000132970	16999	g.chr13:27256966_27256967insC	actin filament polymerization	cytoplasm|cytoskeleton	actin binding																				0.04	1	0	0	1	1	0	0	0	0	--	--		0	C			WASF3_uc001uqw.2_Frame_Shift_Ins_p.P399fs	123	GBM-12-0821-TP	p.P402fs	-	GCCCACCACCTCCCCCGCCAGG	NM_006646	NP_006637	27256966	Q9UPY6	WASF3_HUMAN	0		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	9	1431_1432	+	C	C	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	Frame_Shift_Ins	402_403			Poly-Pro.			
WASH3P	374666		GRCh37	15	102515299	102515299	+	downstream_gene_variant	3'Flank	SNP	G	G	A			TCGA-28-2501-01	TCGA-28-2501-01																							ENST00000354296				0																																																																																																																																																																																																																																												
WASH3P	374666		GRCh37	15	102515257	102515257	+	downstream_gene_variant	3'Flank	SNP	C	C	T			TCGA-28-2510-01	TCGA-28-2510-01																							ENST00000354296				0																																																																																																																																																																																																																																												
WASH3P	374666		GRCh37	15	102515299	102515299	+	downstream_gene_variant	3'Flank	SNP	G	G	A			TCGA-76-6286-01	TCGA-76-6286-01																							ENST00000354296				0																																																																																																																																																																																																																																												
WASH3P	374666		GRCh37	15	102515299	102515299	+	downstream_gene_variant	3'Flank	SNP	G	G	A			TCGA-76-6663-01	TCGA-76-6663-01																							ENST00000354296				0																																																																																																																																																																																																																																												
WBSCR17	0	broad.mit.edu	GRCh37	7	71175875	71175875	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs143185553	byFrequency	TCGA-06-0210-01	TCGA-06-0210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333538.5:c.1630G>A	p.Val544Ile	p.V544I	ENST00000333538	NM_022479.2	544	Gtc/Atc	0	A:0.0018	A:0.0008	1	A:0		A	V/I	uc003tvy.2	protein_coding	YES	CCDS5540.1			1630/1797									skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7	c.(1630-1632)GTC>ATC			PROSITE_profiles:PS50231,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF38,Pfam_domain:PF00652,Gene3D:2.80.10.50,SMART_domains:SM00458,Superfamily_domains:SSF50370	UDP-GalNAc:polypeptide		A:0	A:0	ENSP00000329654	A:0	11-Oct	0.000124	0.00146							rs143185553,COSM3412249	11-Oct	common_variant		ENST00000333538	Transcript		A:0.0002		Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	ENSG00000185274	g.chr7:71175875G>A	16347			MODERATE		2.24	medium	getma.org/?cm=msa&ty=f&p=GLTL3_HUMAN&rb=465&re=591&var=V544I	NA	getma.org/?cm=var&var=hg19,7,71175875,G,A&fts=all	V544I	--	--	1																																		WBSCR17_uc003tvz.2_Missense_Mutation_p.V243I	0,1	1		benign(0.085)	p.V544I	NM_022479	NP_071924	A:0	tolerated(0.1)	0,1	GLTL3_HUMAN	WBSCR17	HGNC	Q6IS24	GLTL3_HUMAN			Q68CW8_HUMAN,Q2L4S5_HUMAN,B3KRD2_HUMAN		10	1630	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	UPI00000502D5	544			Ricin B-type lectin.|Lumenal (Potential).		SNV	WBSCR17,missense_variant,p.Val544Ile,ENST00000333538,NM_022479.2;WBSCR17,non_coding_transcript_exon_variant,,ENST00000498380,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000467723,;	uc003tvy.2	c.1630G>A	2264/3884	2	2			c.1630G>A						7	SNP	c.(1630-1632)GTC>ATC	29	29			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7	Broad	UDP-GalNAc:polypeptide			71175875		0.612	ENSG00000185274	17008	g.chr7:71175875G>A		Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding							19.489602	KEEP	9	11	-1	42	49	9	11	-1	27.271427	42	49	0.164384	1	0	0	0	0	1	0	0	0	--	--		0	A			WBSCR17_uc003tvz.2_Missense_Mutation_p.V243I	47	GBM-06-0210-TP	p.V544I	G	CTGCGACAAGGTCAAGAGCAG	NM_022479	NP_071924	71175875	Q6IS24	GLTL3_HUMAN	0			10	1630	+	A	A		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	Missense_Mutation	544			Ricin B-type lectin.|Lumenal (Potential).			
WBSCR17	0	broad.mit.edu	GRCh37	7	70597924	70597924	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01	TCGA-06-0213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333538.5:c.136G>A	p.Ala46Thr	p.A46T	ENST00000333538	NM_022479.2	46	Gcc/Acc	0			1			A	A/T	uc003tvy.2	protein_coding	YES	CCDS5540.1			136/1797									skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7	c.(136-138)GCC>ACC			hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF38	UDP-GalNAc:polypeptide				ENSP00000329654		11-Jan	8.31E-06							6.19E-05	rs746859541,COSM2150808	11-Jan	.		ENST00000333538	Transcript				Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	ENSG00000185274	g.chr7:70597924G>A	16347			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=GLTL3_HUMAN&rb=1&re=154&var=A46T	NA	getma.org/?cm=var&var=hg19,7,70597924,G,A&fts=all	A46T	--	--	1																																			0,1	1		benign(0.001)	p.A46T	NM_022479	NP_071924		tolerated_low_confidence(0.38)	0,1	GLTL3_HUMAN	WBSCR17	HGNC	Q6IS24	GLTL3_HUMAN			Q68CW8_HUMAN,Q2L4S5_HUMAN,B3KRD2_HUMAN		1	136	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	UPI00000502D5	46			Lumenal (Potential).		SNV	WBSCR17,missense_variant,p.Ala46Thr,ENST00000333538,NM_022479.2;	uc003tvy.2	c.136G>A	770/3884	2	2			c.136G>A						7	SNP	c.(136-138)GCC>ACC	42	42			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7	Broad	UDP-GalNAc:polypeptide			70597924		0.677	ENSG00000185274	17008	g.chr7:70597924G>A		Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding							30.799858	KEEP	7	11	-1	34	37	7	11	-1	35.68175	34	37	0.220588	1	0	0	0	0	1	0	0	0	--	--		0	A				49	GBM-06-0213-TP	p.A46T	G	CCGGCCGCGCGCCGAGGTGGC	NM_022479	NP_071924	70597924	Q6IS24	GLTL3_HUMAN	0			1	136	+	A	A		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	Missense_Mutation	46			Lumenal (Potential).			
WBSCR17	0	broad.mit.edu	GRCh37	7	70880884	70880884	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0214-01	TCGA-06-0214-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333538.5:c.599A>G	p.Lys200Arg	p.K200R	ENST00000333538	NM_022479.2	200	aAg/aGg	0			1			G	K/R	uc003tvy.2	protein_coding	YES	CCDS5540.1			599/1797									skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7	c.(598-600)AAG>AGG			hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF38,Pfam_domain:PF00535,Gene3D:3.90.550.10,Superfamily_domains:SSF53448	UDP-GalNAc:polypeptide				ENSP00000329654		11-Apr									COSM3412247	11-Apr	.		ENST00000333538	Transcript				Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	ENSG00000185274	g.chr7:70880884A>G	16347			MODERATE		1.77	low	getma.org/?cm=msa&ty=f&p=GLTL3_HUMAN&rb=155&re=341&var=K200R	getma.org/pdb.php?prot=GLTL3_HUMAN&from=155&to=341&var=K200R	getma.org/?cm=var&var=hg19,7,70880884,A,G&fts=all	K200R	--	--	1																																		WBSCR17_uc003tvz.2_5'UTR	1	1		possibly_damaging(0.516)	p.K200R	NM_022479	NP_071924		deleterious(0.01)	1	GLTL3_HUMAN	WBSCR17	HGNC	Q6IS24	GLTL3_HUMAN			Q68CW8_HUMAN,Q2L4S5_HUMAN,B3KRD2_HUMAN		4	599	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	UPI00000502D5	200			Catalytic subdomain A.|Lumenal (Potential).		SNV	WBSCR17,missense_variant,p.Lys200Arg,ENST00000333538,NM_022479.2;WBSCR17,missense_variant,p.Lys178Arg,ENST00000447516,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000498380,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000467723,;	uc003tvy.2	c.599A>G	1233/3884	3	3			c.599A>G						7	SNP	c.(598-600)AAG>AGG	4	4			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7	Broad	UDP-GalNAc:polypeptide			70880884		0.498	ENSG00000185274	17008	g.chr7:70880884A>G		Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding							-7.852032	KEEP	2	5	-1	63	63	2	5	-1	16.80928	63	63	0.051724	1	0	0	0	0	1	0	0	0	--	--		0	G			WBSCR17_uc003tvz.2_5'UTR	50	GBM-06-0214-TP	p.K200R	A	GAGGAGCTGAAGGTCCCCCTA	NM_022479	NP_071924	70880884	Q6IS24	GLTL3_HUMAN	0			4	599	+	G	G		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	Missense_Mutation	200			Catalytic subdomain A.|Lumenal (Potential).			
WBSCR17	0	broad.mit.edu	GRCh37	7	71130459	71130459	+	stop_gained	Nonsense_Mutation	SNP	A	A	T			TCGA-06-0649-01	TCGA-06-0649-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333538.5:c.1144A>T	p.Lys382Ter	p.K382*	ENST00000333538	NM_022479.2	382	Aag/Tag	0			1			T	K/*	uc003tvy.2	protein_coding	YES	CCDS5540.1			1144/1797									skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7	c.(1144-1146)AAG>TAG			hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF38,Superfamily_domains:SSF53448	UDP-GalNAc:polypeptide				ENSP00000329654		11-Jul									COSM3412248	11-Jul	.		ENST00000333538	Transcript				Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	ENSG00000185274	g.chr7:71130459A>T	16347			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,71130459,A,T&fts=all	K382*	--	--	1																																		WBSCR17_uc003tvz.2_Nonsense_Mutation_p.K81*	1	1			p.K382*	NM_022479	NP_071924			1	GLTL3_HUMAN	WBSCR17	HGNC	Q6IS24	GLTL3_HUMAN			Q68CW8_HUMAN,Q2L4S5_HUMAN,B3KRD2_HUMAN		7	1144	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	UPI00000502D5	382			Lumenal (Potential).		SNV	WBSCR17,stop_gained,p.Lys382Ter,ENST00000333538,NM_022479.2;WBSCR17,non_coding_transcript_exon_variant,,ENST00000498380,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000467723,;	uc003tvy.2	c.1144A>T	1778/3884	5	2			c.1144A>T						7	SNP	c.(1144-1146)AAG>TAG	22	22			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7	Broad	UDP-GalNAc:polypeptide			71130459		0.488	ENSG00000185274	17008	g.chr7:71130459A>T		Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding							-26.084836	KEEP	6	8	-1	132	80	6	8	-1	13.735655	132	80	0.056995	1	0	0	0	0	0	1	0	0	--	--		0	T			WBSCR17_uc003tvz.2_Nonsense_Mutation_p.K81*	62	GBM-06-0649-TP	p.K382*	A	CATTGAGCGGAAGAAGAAGCC	NM_022479	NP_071924	71130459	Q6IS24	GLTL3_HUMAN	0			7	1144	+	T	T		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	Nonsense_Mutation	382			Lumenal (Potential).			
WBSCR17	0	broad.mit.edu	GRCh37	7	70881029	70881029	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0744-01	TCGA-06-0744-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333538.5:c.744C>T	p.His248=	p.H248=	ENST00000333538	NM_022479.2	248	caC/caT	0		T:0	1	T:0		T	H	uc003tvy.2	protein_coding	YES	CCDS5540.1			744/1797									skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7	c.(742-744)CAC>CAT			hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF38,Pfam_domain:PF00535,Gene3D:3.90.550.10,Superfamily_domains:SSF53448	UDP-GalNAc:polypeptide		T:0		ENSP00000329654	T:0	11-Apr	0.000297		0.000173			0.000151		0.00155	rs566090840,COSM2151635	11-Apr	common_variant		ENST00000333538	Transcript		T:0.0002		Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	ENSG00000185274	g.chr7:70881029C>T	16347			LOW								--	--	1																																		WBSCR17_uc003tvz.2_Translation_Start_Site	0,1	1			p.H248H	NM_022479	NP_071924	T:0.001		0,1	GLTL3_HUMAN	WBSCR17	HGNC	Q6IS24	GLTL3_HUMAN			Q68CW8_HUMAN,Q2L4S5_HUMAN,B3KRD2_HUMAN		4	744	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	UPI00000502D5	248			Catalytic subdomain A.|Lumenal (Potential).		SNV	WBSCR17,synonymous_variant,p.=,ENST00000333538,NM_022479.2;WBSCR17,downstream_gene_variant,,ENST00000447516,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000498380,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000467723,;	uc003tvy.2	c.744C>T	1378/3884	1	1			c.744C>T						7	SNP	c.(742-744)CAC>CAT	9	9			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7	Broad	UDP-GalNAc:polypeptide			70881029		0.567	ENSG00000185274	17008	g.chr7:70881029C>T		Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding							48.955949	KEEP	14	10	-1	53	24	14	10	-1	55.9209	53	24	0.215054	1	0	0	0	0	0	0	1	0	--	--		0	T			WBSCR17_uc003tvz.2_Translation_Start_Site	66	GBM-06-0744-TP	p.H248H	C	TTGATGCCCACGTGGAATTCA	NM_022479	NP_071924	70881029	Q6IS24	GLTL3_HUMAN	0			4	744	+	T	T		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	Silent	248			Catalytic subdomain A.|Lumenal (Potential).			
WBSCR17	0	broad.mit.edu	GRCh37	7	70597844	70597844	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333538.5:c.56C>T	p.Ala19Val	p.A19V	ENST00000333538	NM_022479.2	19	gCc/gTc	0			1			T	A/V	uc003tvy.2	protein_coding	YES	CCDS5540.1			56/1797									skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7	c.(55-57)GCC>GTC			Transmembrane_helices:TMhelix,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF38	UDP-GalNAc:polypeptide				ENSP00000329654		11-Jan									COSM3412245	11-Jan	.		ENST00000333538	Transcript				Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	ENSG00000185274	g.chr7:70597844C>T	16347			MODERATE		-0.205	neutral	getma.org/?cm=msa&ty=f&p=GLTL3_HUMAN&rb=1&re=154&var=A19V	NA	getma.org/?cm=var&var=hg19,7,70597844,C,T&fts=all	A19V	--	--	1																																			1	1		probably_damaging(0.935)	p.A19V	NM_022479	NP_071924		tolerated_low_confidence(1)	1	GLTL3_HUMAN	WBSCR17	HGNC	Q6IS24	GLTL3_HUMAN			Q68CW8_HUMAN,Q2L4S5_HUMAN,B3KRD2_HUMAN		1	56	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	UPI00000502D5	19			Helical; Signal-anchor for type II membrane protein; (Potential).		SNV	WBSCR17,missense_variant,p.Ala19Val,ENST00000333538,NM_022479.2;	uc003tvy.2	c.56C>T	690/3884	1	1			c.56C>T						7	SNP	c.(55-57)GCC>GTC	7	7			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7	Broad	UDP-GalNAc:polypeptide			70597844		0.677	ENSG00000185274	17008	g.chr7:70597844C>T		Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding							-3.304336	KEEP	0	5	-1	30	26	0	5	-1	6.533737	30	26	0.061224	1	0	0	0	0	1	0	0	0	--	--		0	T				269	GBM-76-4929-TP	p.A19V	C	ATCGCGGTAGCCGGCTTCGTG	NM_022479	NP_071924	70597844	Q6IS24	GLTL3_HUMAN	0			1	56	+	T	T		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	Missense_Mutation	19			Helical; Signal-anchor for type II membrane protein; (Potential).			
WBSCR17			GRCh37	7	71135089	71135089	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000333538.5:c.1399G>A	p.Gly467Arg	p.G467R	ENST00000333538	NM_022479.2	467	Ggg/Agg	0																																																																																																																																																																																																																																												
WDFY2	115825	broad.mit.edu	GRCh37	13	52234797	52234797	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-2569-01	TCGA-06-2569-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000298125.5:c.203C>G	p.Pro68Arg	p.P68R	ENST00000298125	NM_052950.3	68	cCt/cGt	0			1			G	P/R	uc001vfp.2	protein_coding	YES	CCDS9429.1			203/1203										0	c.(202-204)CCT>CGT			Superfamily_domains:SSF50978,Gene3D:2.130.10.10,hmmpanther:PTHR13856,hmmpanther:PTHR13856:SF84,PROSITE_profiles:PS50294	WD repeat and FYVE domain containing 2				ENSP00000298125		12-Feb									COSM3399414	12-Feb	.		ENST00000298125	Transcript					metal ion binding	ENSG00000139668	g.chr13:52234797C>G	20482			MODERATE		2.325	medium	getma.org/?cm=msa&ty=f&p=WDFY2_HUMAN&rb=1&re=188&var=P68R	NA	getma.org/?cm=var&var=hg19,13,52234797,C,G&fts=all	P68R	--	--	1																																		WDFY2_uc010ads.1_Missense_Mutation_p.P68R|WDFY2_uc010adt.1_RNA	1	1		benign(0.231)	p.P68R	NM_052950	NP_443182		deleterious(0)	1	WDFY2_HUMAN	WDFY2	HGNC	Q96P53	WDFY2_HUMAN		GBM - Glioblastoma multiforme(99;9e-08)			2	543	+		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)	UPI00000466AC	68			WD 2.		SNV	WDFY2,missense_variant,p.Pro68Arg,ENST00000298125,NM_052950.3;	uc001vfp.2	c.203C>G	383/3649	3	3			c.203C>G						13	SNP	c.(202-204)CCT>CGT	3	3				0	Broad	WD repeat and FYVE domain containing 2			52234797		0.403	ENSG00000139668	17013	g.chr13:52234797C>G			metal ion binding							34.128686	KEEP	10	12	-1	70	71	10	12	-1	50.624086	70	71	0.145985	1	0	0	0	0	1	0	0	0	--	--		0	G			WDFY2_uc010ads.1_Missense_Mutation_p.P68R|WDFY2_uc010adt.1_RNA	90	GBM-06-2569-TP	p.P68R	C	CATGCAATGCCTTGTAAGTAT	NM_052950	NP_443182	52234797	Q96P53	WDFY2_HUMAN	0		GBM - Glioblastoma multiforme(99;9e-08)	2	543	+	G	G		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)	Missense_Mutation	68			WD 2.			
WDFY3	0	broad.mit.edu	GRCh37	4	85719250	85719250	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01	TCGA-19-5955-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295888.4:c.2834G>A	p.Arg945His	p.R945H	ENST00000295888	NM_014991.4	945	cGt/cAt	0			1			T	R/H	uc003hpd.2	protein_coding	YES	CCDS3609.1			2834/10581									ovary(2)|central_nervous_system(1)	3	c.(2833-2835)CGT>CAT			hmmpanther:PTHR13743:SF55,hmmpanther:PTHR13743	WD repeat and FYVE domain containing 3 isoform				ENSP00000295888		18/68	1.65E-05			0.000116		1.50E-05			rs766953747,COSM1131011	18/68	.		ENST00000295888	Transcript				cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	ENSG00000163625	g.chr4:85719250C>T	20751			MODERATE		2.22	medium	getma.org/?cm=msa&ty=f&p=WDFY3_HUMAN&rb=801&re=1000&var=R945H	NA	getma.org/?cm=var&var=hg19,4,85719250,C,T&fts=all	R945H	--	--	1																																			0,1	1		benign(0.222)	p.R945H	NM_014991	NP_055806		deleterious(0)	0,1	WDFY3_HUMAN	WDFY3	HGNC	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	D6RJE4_HUMAN,A7E1Z6_HUMAN		18	3242	-		Hepatocellular(203;0.114)	UPI000013E2C7	945					SNV	WDFY3,missense_variant,p.Arg945His,ENST00000322366,;WDFY3,missense_variant,p.Arg945His,ENST00000295888,NM_014991.4;WDFY3,downstream_gene_variant,,ENST00000512267,;WDFY3,downstream_gene_variant,,ENST00000505923,;	uc003hpd.2	c.2834G>A	3242/14247	2	2			c.2834G>A						4	SNP	c.(2833-2835)CGT>CAT	46	46			ovary(2)|central_nervous_system(1)	3	Broad	WD repeat and FYVE domain containing 3 isoform			85719250		0.313	ENSG00000163625	17014	g.chr4:85719250C>T		cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding							52.097955	KEEP	7	15	-1	35	43	7	15	-1	58.190117	35	43	0.234043	1	0	0	0	0	1	0	0	0	--	--		0	T				175	GBM-19-5955-TP	p.R945H	C	ACTTGCCAAACGTAAAAACTC	NM_014991	NP_055806	85719250	Q8IZQ1	WDFY3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	18	3242	-	T	T		Hepatocellular(203;0.114)	Missense_Mutation	945						
WDFY3	0	broad.mit.edu	GRCh37	4	85657415	85657415	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1832-01	TCGA-27-1832-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295888.4:c.6823C>T	p.Arg2275Cys	p.R2275C	ENST00000295888	NM_014991.4	2275	Cgt/Tgt	0			1			A	R/C	uc003hpd.2	protein_coding	YES	CCDS3609.1			6823/10581									ovary(2)|central_nervous_system(1)	3	c.(6823-6825)CGT>TGT			hmmpanther:PTHR13743:SF55,hmmpanther:PTHR13743	WD repeat and FYVE domain containing 3 isoform				ENSP00000295888		42/68									COSM3409589	42/68	.		ENST00000295888	Transcript				cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	ENSG00000163625	g.chr4:85657415G>A	20751			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=WDFY3_HUMAN&rb=2201&re=2400&var=R2275C	NA	getma.org/?cm=var&var=hg19,4,85657415,G,A&fts=all	R2275C	--	--	1																																		WDFY3_uc003hpe.1_5'Flank	1	1		possibly_damaging(0.776)	p.R2275C	NM_014991	NP_055806		deleterious(0)	1	WDFY3_HUMAN	WDFY3	HGNC	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	D6RJE4_HUMAN,A7E1Z6_HUMAN		42	7231	-		Hepatocellular(203;0.114)	UPI000013E2C7	2275					SNV	WDFY3,missense_variant,p.Arg2275Cys,ENST00000322366,;WDFY3,missense_variant,p.Arg2275Cys,ENST00000295888,NM_014991.4;WDFY3,upstream_gene_variant,,ENST00000514711,;WDFY3,non_coding_transcript_exon_variant,,ENST00000504839,;	uc003hpd.2	c.6823C>T	7231/14247	1	1			c.6823C>T						4	SNP	c.(6823-6825)CGT>TGT	50	50			ovary(2)|central_nervous_system(1)	3	Broad	WD repeat and FYVE domain containing 3 isoform			85657415		0.373	ENSG00000163625	17014	g.chr4:85657415G>A		cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding							66.816621	KEEP	21	8	-1	59	39	21	8	-1	74.326125	59	39	0.227273	1	0	0	0	0	1	0	0	0	--	--		0	A			WDFY3_uc003hpe.1_5'Flank	191	GBM-27-1832-TP	p.R2275C	G	CTGCTGACACGGGATAATTTG	NM_014991	NP_055806	85657415	Q8IZQ1	WDFY3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	42	7231	-	A	A		Hepatocellular(203;0.114)	Missense_Mutation	2275						
WDFY3	0	broad.mit.edu	GRCh37	4	85611704	85611704	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-28-5214-01	TCGA-28-5214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295888.4:c.9318G>C	p.Glu3106Asp	p.E3106D	ENST00000295888	NM_014991.4	3106	gaG/gaC	0			1			G	E/D	uc003hpd.2	protein_coding	YES	CCDS3609.1			9318/10581									ovary(2)|central_nervous_system(1)	3	c.(9316-9318)GAG>GAC			Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR13743:SF55,hmmpanther:PTHR13743,PROSITE_profiles:PS50294	WD repeat and FYVE domain containing 3 isoform				ENSP00000295888		61/68									COSM3409587	61/68	.		ENST00000295888	Transcript				cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	ENSG00000163625	g.chr4:85611704C>G	20751			MODERATE		1.55	low	getma.org/?cm=msa&ty=f&p=WDFY3_HUMAN&rb=2977&re=3116&var=E3106D	NA	getma.org/?cm=var&var=hg19,4,85611704,C,G&fts=all	E3106D	--	--	1																																			1	1		benign(0.084)	p.E3106D	NM_014991	NP_055806		tolerated(0.06)	1	WDFY3_HUMAN	WDFY3	HGNC	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	D6RJE4_HUMAN,A7E1Z6_HUMAN		61	9726	-		Hepatocellular(203;0.114)	UPI000013E2C7	3106			WD 1.		SNV	WDFY3,missense_variant,p.Glu3089Asp,ENST00000322366,;WDFY3,missense_variant,p.Glu3106Asp,ENST00000295888,NM_014991.4;WDFY3,downstream_gene_variant,,ENST00000514711,;RN7SL552P,upstream_gene_variant,,ENST00000462094,;	uc003hpd.2	c.9318G>C	9726/14247	4	4			c.9318G>C						4	SNP	c.(9316-9318)GAG>GAC	31	31			ovary(2)|central_nervous_system(1)	3	Broad	WD repeat and FYVE domain containing 3 isoform			85611704		0.517	ENSG00000163625	17014	g.chr4:85611704C>G		cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding							-5.754916	KEEP	5	6	-1	99	64	5	6	-1	25.157648	99	64	0.059211	1	0	0	0	0	1	0	0	0	--	--		0	G				221	GBM-28-5214-TP	p.E3106D	C	AGGTGCCCATCTCCCACACAC	NM_014991	NP_055806	85611704	Q8IZQ1	WDFY3_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	61	9726	-	G	G		Hepatocellular(203;0.114)	Missense_Mutation	3106			WD 1.			
WDHD1	11169	broad.mit.edu	GRCh37	14	55451511	55451511	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0128-01	TCGA-06-0128-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360586.3:c.1836A>C	p.Gln612His	p.Q612H	ENST00000360586	NM_007086.3	612	caA/caC	0			1			G	Q/H	uc001xbm.1	protein_coding	YES	CCDS9721.1			1836/3390									skin(1)	1	c.(1834-1836)CAA>CAC			hmmpanther:PTHR19932,hmmpanther:PTHR19932:SF10	WD repeat and HMG-box DNA binding protein 1				ENSP00000353793		15/26									COSM2149485	15/26	.		ENST00000360586	Transcript				cytoplasm|nucleoplasm	DNA binding	ENSG00000198554	g.chr14:55451511T>G	23170			MODERATE		2.585	medium	getma.org/?cm=msa&ty=f&p=WDHD1_HUMAN&rb=559&re=758&var=Q612H	NA	getma.org/?cm=var&var=hg19,14,55451511,T,G&fts=all	Q612H	--	--	1																																		WDHD1_uc010aom.1_Missense_Mutation_p.Q129H|WDHD1_uc001xbn.1_Missense_Mutation_p.Q489H	1	1		probably_damaging(0.94)	p.Q612H	NM_007086	NP_009017		deleterious(0.01)	1	WDHD1_HUMAN	WDHD1	HGNC	O75717	WDHD1_HUMAN			C9JYB3_HUMAN,C9JW18_HUMAN		15	1914	-			UPI0000125AC6	612	Q -> K (in Ref. 2; AAH43349/AAH00622).				SNV	WDHD1,missense_variant,p.Gln612His,ENST00000360586,NM_007086.3;WDHD1,missense_variant,p.Gln489His,ENST00000420358,NM_001008396.2;WDHD1,missense_variant,p.Gln489His,ENST00000421192,;WDHD1,missense_variant,p.Gln130His,ENST00000359167,;WDHD1,3_prime_UTR_variant,,ENST00000567693,;	uc001xbm.1	c.1836A>C	1902/5996	3	3			c.1836A>C						14	SNP	c.(1834-1836)CAA>CAC	60	60			skin(1)	1	Broad	WD repeat and HMG-box DNA binding protein 1			55451511		0.378	ENSG00000198554	17015	g.chr14:55451511T>G		cytoplasm|nucleoplasm	DNA binding			606			606	226.598917	KEEP	24	43	-1	25	16	24	43	-1	227.770516	25	16	0.616162	1	0	0	0	0	1	0	0	0	--	--		0	G			WDHD1_uc010aom.1_Missense_Mutation_p.Q129H|WDHD1_uc001xbn.1_Missense_Mutation_p.Q489H	14	GBM-06-0128-TP	p.Q612H	T	CATGCAAAATTTGTTTTTTCT	NM_007086	NP_009017	55451511	O75717	WDHD1_HUMAN	0			15	1914	-	G	G			Missense_Mutation	612	Q -> K (in Ref. 2; AAH43349/AAH00622).					
WDR1	0	broad.mit.edu	GRCh37	4	10086069	10086070	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-12-0615-01	TCGA-12-0615-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382452.2:c.1036dupA	p.Ile346AsnfsTer2	p.I346Nfs*2	ENST00000382452	NM_017491.3	346	att/aAtt	0			1			T	I/NX	uc003gmf.2	protein_coding					1036-1037/1821									ovary(2)|pancreas(1)	3	c.(1036-1038)ATTfs			Gene3D:2.130.10.10,Pfam_domain:PF00400,Prints_domain:PR00320,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19856,SMART_domains:SM00320,Superfamily_domains:SSF50974,Superfamily_domains:SSF50978	WD repeat-containing protein 1 isoform 1				ENSP00000371890		15-Sep										15-Sep	.		ENST00000382452	Transcript			platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	ENSG00000071127	g.chr4:10086069_10086070insT	12754			HIGH								--	--	1																																		WDR1_uc003gmg.2_Frame_Shift_Ins_p.I206fs|WDR1_uc003gmh.1_RNA|WDR1_uc011bwu.1_Frame_Shift_Ins_p.I181fs|WDR1_uc010idm.2_5'Flank					p.I346fs	NM_017491	NP_059830				WDR1_HUMAN	WDR1	HGNC	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)			9	1319_1320	-			UPI0000138EDA	346			WD 6.		insertion	WDR1,frameshift_variant,p.Ile346AsnfsTer2,ENST00000382452,NM_017491.3;WDR1,frameshift_variant,p.Ile346AsnfsTer2,ENST00000499869,;WDR1,frameshift_variant,p.Ile206AsnfsTer2,ENST00000382451,NM_005112.4;WDR1,frameshift_variant,p.Ile206AsnfsTer2,ENST00000502702,;WDR1,downstream_gene_variant,,ENST00000508079,;WDR1,non_coding_transcript_exon_variant,,ENST00000515743,;WDR1,non_coding_transcript_exon_variant,,ENST00000502962,;WDR1,non_coding_transcript_exon_variant,,ENST00000506246,;WDR1,non_coding_transcript_exon_variant,,ENST00000504739,;WDR1,downstream_gene_variant,,ENST00000505543,;WDR1,downstream_gene_variant,,ENST00000510848,;WDR1,downstream_gene_variant,,ENST00000508949,;WDR1,downstream_gene_variant,,ENST00000509695,;	uc003gmf.2	c.1036_1037insA	1319-1320/3142	5	5			c.1036_1037insA						4	INS	c.(1036-1038)ATTfs	64	64			ovary(2)|pancreas(1)	3	Broad	WD repeat-containing protein 1 isoform 1			10086070		0.55	ENSG00000071127	17016	g.chr4:10086069_10086070insT	platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding																				0.31	1	0	0	1	1	0	0	0	0	--	--		0	T			WDR1_uc003gmg.2_Frame_Shift_Ins_p.I206fs|WDR1_uc003gmh.1_RNA|WDR1_uc011bwu.1_Frame_Shift_Ins_p.I181fs|WDR1_uc010idm.2_5'Flank	117	GBM-12-0615-TP	p.I346fs	-	AAGGATATTAATGTGTCCGTCG	NM_017491	NP_059830	10086069	O75083	WDR1_HUMAN	0		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	9	1319_1320	-	T	T			Frame_Shift_Ins	346			WD 6.			
WDR1	0	broad.mit.edu	GRCh37	4	10100717	10100718	+	inframe_insertion	In_Frame_Ins	INS	-	-	TGCTCC			TCGA-12-1597-01	TCGA-12-1597-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382452.2:c.270_275dupGGAGCA	p.Glu91_His92insGlnGlu	p.E91_H92insQE	ENST00000382452	NM_017491.3	92	cac/caGGAGCAc	0			1			TGCTCC	H/QEH	uc003gmf.2	protein_coding					275-276/1821									ovary(2)|pancreas(1)	3	c.(274-276)CAC>CAGGAGCAC			Gene3D:2.130.10.10,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19856,SMART_domains:SM00320,Superfamily_domains:SSF50974	WD repeat-containing protein 1 isoform 1				ENSP00000371890		15-Apr										15-Apr	.		ENST00000382452	Transcript			platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	ENSG00000071127	g.chr4:10100717_10100718insTGCTCC	12754			MODERATE								--	--	1																																		WDR1_uc003gmg.2_Intron					p.91_92insQE	NM_017491	NP_059830				WDR1_HUMAN	WDR1	HGNC	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)			4	558_559	-			UPI0000138EDA	91_92			WD 1.		insertion	WDR1,inframe_insertion,p.Glu91_His92insGlnGlu,ENST00000382452,NM_017491.3;WDR1,inframe_insertion,p.Glu91_His92insGlnGlu,ENST00000499869,;WDR1,inframe_insertion,p.Glu95_His96insGlnGlu,ENST00000508079,;WDR1,intron_variant,,ENST00000382451,NM_005112.4;WDR1,intron_variant,,ENST00000502702,;WDR1,non_coding_transcript_exon_variant,,ENST00000514319,;WDR1,non_coding_transcript_exon_variant,,ENST00000505851,;WDR1,non_coding_transcript_exon_variant,,ENST00000264785,;WDR1,non_coding_transcript_exon_variant,,ENST00000515018,;WDR1,upstream_gene_variant,,ENST00000505543,;WDR1,upstream_gene_variant,,ENST00000510848,;WDR1,upstream_gene_variant,,ENST00000508949,;WDR1,upstream_gene_variant,,ENST00000509695,;	uc003gmf.2	c.275_276insGGAGCA	558-559/3142	5	5			c.275_276insGGAGCA						4	INS	c.(274-276)CAC>CAGGAGCAC	6	6			ovary(2)|pancreas(1)	3	Broad	WD repeat-containing protein 1 isoform 1			10100718		0.589	ENSG00000071127	17016	g.chr4:10100717_10100718insTGCTCC	platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding																				0.25	1	0	0	1	1	0	0	0	0	--	--		0	TGCTCC			WDR1_uc003gmg.2_Intron	124	GBM-12-1597-TP	p.91_92insQE	-	ACTTCAACAGGTGCTCCTTCTG	NM_017491	NP_059830	10100717	O75083	WDR1_HUMAN	0		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	4	558_559	-	TGCTCC	TGCTCC			In_Frame_Ins	91_92			WD 1.			
WDR1	0	broad.mit.edu	GRCh37	4	10080542	10080542	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-15-1444-01	TCGA-15-1444-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382452.2:c.1368C>T	p.Gly456=	p.G456=	ENST00000382452	NM_017491.3	456	ggC/ggT	0			1			A	G	uc003gmf.2	protein_coding					1368/1821									ovary(2)|pancreas(1)	3	c.(1366-1368)GGC>GGT			Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR19856,SMART_domains:SM00320,Superfamily_domains:SSF50978	WD repeat-containing protein 1 isoform 1				ENSP00000371890		15-Dec	1.65E-05	0.000102	8.66E-05						rs758676158,COSM3408946,COSM3408945	15-Dec	.		ENST00000382452	Transcript			platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	ENSG00000071127	g.chr4:10080542G>A	12754			LOW								--	--	1																																		WDR1_uc003gmg.2_Silent_p.G316G|WDR1_uc010idm.2_RNA|hsa-mir-3138|MI0014161_5'Flank	0,1,1				p.G456G	NM_017491	NP_059830			0,1,1	WDR1_HUMAN	WDR1	HGNC	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)			12	1651	-			UPI0000138EDA	456			WD 8.		SNV	WDR1,synonymous_variant,p.=,ENST00000382452,NM_017491.3;WDR1,synonymous_variant,p.=,ENST00000499869,;WDR1,synonymous_variant,p.=,ENST00000382451,NM_005112.4;WDR1,synonymous_variant,p.=,ENST00000502702,;MIR3138,upstream_gene_variant,,ENST00000585238,;WDR1,non_coding_transcript_exon_variant,,ENST00000515743,;WDR1,non_coding_transcript_exon_variant,,ENST00000502962,;	uc003gmf.2	c.1368C>T	1651/3142	1	1			c.1368C>T						4	SNP	c.(1366-1368)GGC>GGT	56	56			ovary(2)|pancreas(1)	3	Broad	WD repeat-containing protein 1 isoform 1			10080542		0.592	ENSG00000071127	17016	g.chr4:10080542G>A	platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding							41.036281	KEEP	10	10	-1	25	38	10	10	-1	44.838655	25	38	0.25	1	0	0	0	0	0	0	1	0	--	--		0	A			WDR1_uc003gmg.2_Silent_p.G316G|WDR1_uc010idm.2_RNA|hsa-mir-3138|MI0014161_5'Flank	154	GBM-15-1444-TP	p.G456G	G	CCGTGTCCCCGCCGGGGTGCA	NM_017491	NP_059830	10080542	O75083	WDR1_HUMAN	0		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	12	1651	-	A	A			Silent	456			WD 8.			
WDR1	0	broad.mit.edu	GRCh37	4	10099515	10099515	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T			TCGA-19-5954-01	TCGA-19-5954-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382452.2:c.378G>A	p.Lys126=	p.K126=	ENST00000382452	NM_017491.3	126	aaG/aaA	0			1			T	K	uc003gmf.2	protein_coding					378/1821									ovary(2)|pancreas(1)	3	c.(376-378)AAG>AAA			Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR19856,SMART_domains:SM00320,Superfamily_domains:SSF50974	WD repeat-containing protein 1 isoform 1				ENSP00000371890		15-May									COSM2951625,COSM2951624	15-May	.		ENST00000382452	Transcript			platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	ENSG00000071127	g.chr4:10099515C>T	12754			LOW								--	--	1																																		WDR1_uc003gmg.2_Intron	1,1				p.K126K	NM_017491	NP_059830			1,1	WDR1_HUMAN	WDR1	HGNC	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)			5	661	-			UPI0000138EDA	126			WD 2.		SNV	WDR1,splice_region_variant,p.=,ENST00000382452,NM_017491.3;WDR1,splice_region_variant,p.=,ENST00000499869,;WDR1,splice_region_variant,p.=,ENST00000508079,;WDR1,intron_variant,,ENST00000382451,NM_005112.4;WDR1,intron_variant,,ENST00000502702,;WDR1,splice_region_variant,,ENST00000514319,;WDR1,splice_region_variant,,ENST00000505851,;WDR1,splice_region_variant,,ENST00000264785,;WDR1,upstream_gene_variant,,ENST00000515743,;WDR1,upstream_gene_variant,,ENST00000502962,;WDR1,upstream_gene_variant,,ENST00000505543,;WDR1,upstream_gene_variant,,ENST00000506246,;WDR1,upstream_gene_variant,,ENST00000504739,;WDR1,upstream_gene_variant,,ENST00000510848,;WDR1,upstream_gene_variant,,ENST00000508949,;WDR1,upstream_gene_variant,,ENST00000509695,;WDR1,downstream_gene_variant,,ENST00000515018,;	uc003gmf.2	c.378G>A	661/3142	1	1			c.378G>A						4	SNP	c.(376-378)AAG>AAA	5	5			ovary(2)|pancreas(1)	3	Broad	WD repeat-containing protein 1 isoform 1			10099515		0.478	ENSG00000071127	17016	g.chr4:10099515C>T	platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding							12.497255	KEEP	0	4	-1	3	4	0	4	-1	12.677128	3	4	0.363636	1	0	0	0	0	0	0	1	0	--	--		0	T			WDR1_uc003gmg.2_Intron	174	GBM-19-5954-TP	p.K126K	C	CTGCTCCAAACCTTGACCCAA	NM_017491	NP_059830	10099515	O75083	WDR1_HUMAN	0		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	5	661	-	T	T			Silent	126			WD 2.			
WDR11	0	broad.mit.edu	GRCh37	10	122622305	122622305	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-28-5211-01	TCGA-28-5211-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263461.6:c.585A>G	p.Ser195=	p.S195=	ENST00000263461	NM_018117.11	195	tcA/tcG	0			1			G	S	uc010qtf.1	protein_coding	YES	CCDS7619.1			585/3675										0	c.(583-585)TCA>TCG			Low_complexity_(Seg):seg,Superfamily_domains:SSF50978,Gene3D:2.130.10.10,hmmpanther:PTHR14593	bromodomain and WD repeat domain containing 2				ENSP00000263461		29-May									COSM3747851	29-May	.		ENST00000263461	Transcript	1			integral to membrane		ENSG00000120008	g.chr10:122622305A>G	13831			LOW								--	--	1																																		WDR11_uc010qte.1_Intron|WDR11_uc001lfd.1_5'UTR	1	1			p.S195S	NM_018117	NP_060587			1	WDR11_HUMAN	WDR11	HGNC	Q9BZH6	WDR11_HUMAN			S4R3Z0_HUMAN,Q9NWV7_HUMAN,Q659C9_HUMAN		5	823	+			UPI0000138ED1	195					SNV	WDR11,synonymous_variant,p.=,ENST00000263461,NM_018117.11;WDR11,5_prime_UTR_variant,,ENST00000604585,;WDR11,non_coding_transcript_exon_variant,,ENST00000462529,;WDR11,non_coding_transcript_exon_variant,,ENST00000605178,;WDR11,non_coding_transcript_exon_variant,,ENST00000605069,;WDR11,downstream_gene_variant,,ENST00000470052,;WDR11,downstream_gene_variant,,ENST00000605202,;WDR11,5_prime_UTR_variant,,ENST00000497136,;WDR11,intron_variant,,ENST00000605543,;	uc010qtf.1	c.585A>G	831/4732	3	3			c.585A>G						10	SNP	c.(583-585)TCA>TCG	1	1				0	Broad	bromodomain and WD repeat domain containing 2			122622305		0.443	ENSG00000120008	17017	g.chr10:122622305A>G		integral to membrane								-38.682934	KEEP	3	2	-1	111	86	3	2	-1	7.094392	111	86	0.022222	1	0	0	0	0	0	0	1	0	--	--		0	G			WDR11_uc010qte.1_Intron|WDR11_uc001lfd.1_5'UTR	219	GBM-28-5211-TP	p.S195S	A	AGCCTCCCTCAGGCCCTGGGA	NM_018117	NP_060587	122622305	Q9BZH6	WDR11_HUMAN	0			5	823	+	G	G			Silent	195						
WDR11	55717		GRCh37	10	122649467	122649467	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000263461.6:c.2289T>C	p.Asn763=	p.N763=	ENST00000263461	NM_018117.11	763	aaT/aaC	0																																																																																																																																																																																																																																												
WDR13	0	broad.mit.edu	GRCh37	X	48458765	48458765	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-2521-01	TCGA-27-2521-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000218056.5:c.582C>T	p.Asp194=	p.D194=	ENST00000218056	NM_001166426.1	194	gaC/gaT	0			1			T	D	uc004dkh.1	protein_coding	YES	CCDS14302.1			582/1458									ovary(2)	2	c.(580-582)GAC>GAT			Gene3D:2.130.10.10,hmmpanther:PTHR22838,hmmpanther:PTHR22838:SF1,SMART_domains:SM00320,Superfamily_domains:SSF50978	WD repeat domain 13 protein				ENSP00000218056		9-May	2.47E-05				0.000222	4.27E-05			rs782080281,COSM3406415,COSM3406416	9-May	.		ENST00000218056	Transcript				cytoplasm|nucleus		ENSG00000101940	g.chrX:48458765C>T	14352			LOW								--	--	1																																		WDR13_uc010nif.1_Silent_p.D72D|WDR13_uc004dki.1_Silent_p.D102D|WDR13_uc004dkj.1_Silent_p.D194D|WDR13_uc004dkk.1_Silent_p.D102D|WDR13_uc004dkl.3_Silent_p.D102D|WDR13_uc011mme.1_Silent_p.D72D	0,1,1	1			p.D194D	NM_017883	NP_060353			0,1,1	WDR13_HUMAN	WDR13	HGNC	Q9H1Z4	WDR13_HUMAN					6	729	+			UPI00001AE60C	194			WD 1.		SNV	WDR13,synonymous_variant,p.=,ENST00000218056,NM_001166426.1,NM_017883.4;WDR13,synonymous_variant,p.=,ENST00000376729,;WDR13,non_coding_transcript_exon_variant,,ENST00000479279,;WDR13,non_coding_transcript_exon_variant,,ENST00000471334,;WDR13,non_coding_transcript_exon_variant,,ENST00000497756,;WDR13,non_coding_transcript_exon_variant,,ENST00000498631,;WDR13,non_coding_transcript_exon_variant,,ENST00000466962,;WDR13,non_coding_transcript_exon_variant,,ENST00000495575,;WDR13,downstream_gene_variant,,ENST00000492715,;WDR13,downstream_gene_variant,,ENST00000486125,;WDR13,upstream_gene_variant,,ENST00000482760,;WDR13,upstream_gene_variant,,ENST00000492873,;WDR13,downstream_gene_variant,,ENST00000470124,;WDR13,downstream_gene_variant,,ENST00000472440,;	uc004dkh.1	c.582C>T	1087/2124	2	2			c.582C>T						23	SNP	c.(580-582)GAC>GAT	33	33			ovary(2)	2	Broad	WD repeat domain 13 protein			48458765		0.632	ENSG00000101940	17019	g.chrX:48458765C>T		cytoplasm|nucleus								120.200046	KEEP	29	19	-1	5	2	29	19	-1	125.595496	5	2	0.860465	1	0	0	0	0	0	0	1	0	--	--		0	T			WDR13_uc010nif.1_Silent_p.D72D|WDR13_uc004dki.1_Silent_p.D102D|WDR13_uc004dkj.1_Silent_p.D194D|WDR13_uc004dkk.1_Silent_p.D102D|WDR13_uc004dkl.3_Silent_p.D102D|WDR13_uc011mme.1_Silent_p.D72D	200	GBM-27-2521-TP	p.D194D	C	GCTCACTCGACGGCAGCATCT	NM_017883	NP_060353	48458765	Q9H1Z4	WDR13_HUMAN	0			6	729	+	T	T			Silent	194			WD 1.			
WDR16	0	broad.mit.edu	GRCh37	17	9546402	9546402	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-41-2575-01	TCGA-41-2575-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000352665.5:c.1750G>T	p.Val584Leu	p.V584L	ENST00000352665	NM_145054.4	584	Gtg/Ttg	0			1			T	V/L	uc002gly.2	protein_coding	YES	CCDS11149.2			1750/1863									skin(2)|ovary(1)|central_nervous_system(1)	4	c.(1750-1752)GTG>TTG			PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR13720:SF14,hmmpanther:PTHR13720,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	WD40-repeat protein upregulated in HCC isoform				ENSP00000339449		14/14									COSM3403421,COSM3403422	14/14	.		ENST00000352665	Transcript				cytoplasm|intracellular membrane-bounded organelle	protein binding	ENSG00000166596	g.chr17:9546402G>T	16053			MODERATE		0.15	neutral	getma.org/?cm=msa&ty=f&p=WDR16_HUMAN&rb=577&re=615&var=V584L	NA	getma.org/?cm=var&var=hg19,17,9546402,G,T&fts=all	V584L	--	--	1																																		USP43_uc002gma.3_5'Flank|USP43_uc010cod.2_5'Flank|USP43_uc010vva.1_5'Flank|WDR16_uc002glz.2_Missense_Mutation_p.V516L|WDR16_uc010coc.2_Missense_Mutation_p.V594L	1,1	1		benign(0.014)	p.V584L	NM_145054	NP_659491		tolerated(0.22)	1,1	WDR16_HUMAN	WDR16	HGNC	Q8N1V2	WDR16_HUMAN					14	1819	+			UPI00001AECC1	584					SNV	WDR16,missense_variant,p.Val584Leu,ENST00000352665,NM_145054.4;WDR16,missense_variant,p.Val594Leu,ENST00000299764,;WDR16,missense_variant,p.Val516Leu,ENST00000396219,NM_001080556.1;WDR16,3_prime_UTR_variant,,ENST00000574097,;USP43,upstream_gene_variant,,ENST00000285199,NM_001267576.1,NM_153210.4;USP43,upstream_gene_variant,,ENST00000570475,;RP11-55L4.2,intron_variant,,ENST00000584676,;RP11-55L4.1,downstream_gene_variant,,ENST00000572923,;USP43,upstream_gene_variant,,ENST00000570827,;WDR16,downstream_gene_variant,,ENST00000576714,;WDR16,3_prime_UTR_variant,,ENST00000576630,;	uc002gly.2	c.1750G>T	1819/2193	1	1			c.1750G>T						17	SNP	c.(1750-1752)GTG>TTG	13	13			skin(2)|ovary(1)|central_nervous_system(1)	4	Broad	WD40-repeat protein upregulated in HCC isoform			9546402		0.443	ENSG00000166596	17020	g.chr17:9546402G>T		cytoplasm|intracellular membrane-bounded organelle	protein binding							81.598534	KEEP	18	12	0.6	35	33	18	12	0.6	84.475948	35	33	0.315789	1	0	0	0	0	1	0	0	0	--	--		0	T			USP43_uc002gma.3_5'Flank|USP43_uc010cod.2_5'Flank|USP43_uc010vva.1_5'Flank|WDR16_uc002glz.2_Missense_Mutation_p.V516L|WDR16_uc010coc.2_Missense_Mutation_p.V594L	253	GBM-41-2575-TP	p.V584L	G	TCACGTTGGGGTGGGACACAG	NM_145054	NP_659491	9546402	Q8N1V2	WDR16_HUMAN	0			14	1819	+	T	T			Missense_Mutation	584						
WDR19	57728	broad.mit.edu	GRCh37	4	39218764	39218764	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-5417-01	TCGA-06-5417-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399820.3:c.1260A>T	p.Lys420Asn	p.K420N	ENST00000399820	NM_025132.3	420	aaA/aaT	0			1			T	K/N	uc003gtv.2	protein_coding	YES	CCDS47042.1			1260/4029									large_intestine(1)	1	c.(1258-1260)AAA>AAT			Superfamily_domains:SSF82171,hmmpanther:PTHR14920,hmmpanther:PTHR14920:SF0	WD repeat domain 19				ENSP00000382717		13/37									COSM3409282	13/37	.		ENST00000399820	Transcript	1		cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	ENSG00000157796	g.chr4:39218764A>T	18340			MODERATE		2.43	medium	getma.org/?cm=msa&ty=f&p=WDR19_HUMAN&rb=401&re=600&var=K420N	NA	getma.org/?cm=var&var=hg19,4,39218764,A,T&fts=all	K420N	--	--	1																																		WDR19_uc003gtu.1_Missense_Mutation_p.K420N|WDR19_uc011byi.1_Missense_Mutation_p.K260N|WDR19_uc003gtw.1_Missense_Mutation_p.K17N	1	1		benign(0.166)	p.K420N	NM_025132	NP_079408		tolerated(0.18)	1	WDR19_HUMAN	WDR19	HGNC	Q8NEZ3	WDR19_HUMAN			D6RE75_HUMAN,B4DGR6_HUMAN		13	1414	+			UPI000004CC24	420					SNV	WDR19,missense_variant,p.Lys420Asn,ENST00000399820,NM_025132.3;WDR19,missense_variant,p.Lys260Asn,ENST00000288634,;WDR19,missense_variant,p.Lys420Asn,ENST00000506503,;WDR19,intron_variant,,ENST00000511729,;WDR19,3_prime_UTR_variant,,ENST00000506869,;WDR19,non_coding_transcript_exon_variant,,ENST00000512095,;WDR19,downstream_gene_variant,,ENST00000503697,;	uc003gtv.2	c.1260A>T	1414/4520	1	1			c.1260A>T						4	SNP	c.(1258-1260)AAA>AAT	10	10			large_intestine(1)	1	Broad	WD repeat domain 19			39218764		0.343	ENSG00000157796	17023	g.chr4:39218764A>T	cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding							25.873439	KEEP	4	5	-1	10	3	4	5	-1	25.916788	10	3	0.45	1	0	0	0	0	1	0	0	0	--	--		0	T			WDR19_uc003gtu.1_Missense_Mutation_p.K420N|WDR19_uc011byi.1_Missense_Mutation_p.K260N|WDR19_uc003gtw.1_Missense_Mutation_p.K17N	99	GBM-06-5417-TP	p.K420N	A	CTGTGAAAAAATTGAAAGATA	NM_025132	NP_079408	39218764	Q8NEZ3	WDR19_HUMAN	0			13	1414	+	T	T			Missense_Mutation	420						
WDR33	55339	broad.mit.edu	GRCh37	2	128484320	128484320	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5412-01	TCGA-06-5412-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322313.4:c.756G>A	p.Trp252Ter	p.W252*	ENST00000322313	NM_018383.4	252	tgG/tgA	0			1			T	W/*	uc002tpg.1	protein_coding	YES	CCDS2150.1			756/4011										0	c.(754-756)TGG>TGA			PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR22836,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	WD repeat domain 33 isoform 1				ENSP00000325377		22-Aug									COSM3406847	22-Aug	.		ENST00000322313	Transcript			postreplication repair|spermatogenesis	collagen|nucleus	protein binding	ENSG00000136709	g.chr2:128484320C>T	25651			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,128484320,C,T&fts=all	W252*	--	--	1																																			1	1			p.W252*	NM_018383	NP_060853			1	WDR33_HUMAN	WDR33	HGNC	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	C9J8B4_HUMAN,B9A053_HUMAN		8	939	-	Colorectal(110;0.1)		UPI000013D032	252			WD 4.		SNV	WDR33,stop_gained,p.Trp252Ter,ENST00000322313,NM_018383.4;WDR33,stop_gained,p.Trp174Ter,ENST00000436787,;	uc002tpg.1	c.756G>A	915/9471	5	2			c.756G>A						2	SNP	c.(754-756)TGG>TGA	28	28				0	Broad	WD repeat domain 33 isoform 1			128484320		0.408	ENSG00000136709	17031	g.chr2:128484320C>T	postreplication repair|spermatogenesis	collagen|nucleus	protein binding							-27.012365	KEEP	1	4	-1	65	88	1	4	-1	7.516156	65	88	0.028369	1	0	0	0	0	0	1	0	0	--	--		0	T				95	GBM-06-5412-TP	p.W252*	C	TGGTTGGATGCCAGTCTACAC	NM_018383	NP_060853	128484320	Q9C0J8	WDR33_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.0695)	8	939	-	T	T	Colorectal(110;0.1)		Nonsense_Mutation	252			WD 4.			
WDR36	134430		GRCh37	5	110461398	110461398	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000506538.2:c.2611G>C	p.Glu871Gln	p.E871Q	ENST00000506538	NM_139281.2	871	Gaa/Caa	0																																																																																																																																																																																																																																												
WDR4	10785	broad.mit.edu	GRCh37	21	44296865	44296865	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2567-01	TCGA-06-2567-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398208.2:c.102C>T	p.Ser34=	p.S34=	ENST00000398208	NM_001260476.1	34	agC/agT	0			1			A	S	uc002zci.2	protein_coding		CCDS13691.1			102/1239									ovary(1)	1	c.(100-102)AGC>AGT			Gene3D:2.130.10.10,HAMAP:MF_03056,hmmpanther:PTHR16288,hmmpanther:PTHR16288:SF0,Superfamily_domains:SSF50978	WD repeat domain 4 protein				ENSP00000328671		12-Feb									COSM2153083	12-Feb	.		ENST00000330317	Transcript			tRNA modification	cytoplasm|nucleoplasm	protein binding	ENSG00000160193	g.chr21:44296865G>A	12756			LOW								--	--	1																																		WDR4_uc002zck.1_Silent_p.S34S|WDR4_uc002zcl.1_5'UTR|WDR4_uc010gpg.1_Silent_p.S34S|WDR4_uc011aew.1_5'UTR|WDR4_uc010gph.1_5'UTR	1				p.S34S	NM_033661	NP_387510			1	WDR4_HUMAN	WDR4	HGNC	P57081	WDR4_HUMAN		Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)			2	175	-			UPI00000372F0	34					SNV	WDR4,synonymous_variant,p.=,ENST00000398208,NM_001260476.1,NM_001260474.1,NM_018669.5,NM_001260475.1;WDR4,synonymous_variant,p.=,ENST00000330317,NM_033661.4;WDR4,non_coding_transcript_exon_variant,,ENST00000492742,;WDR4,non_coding_transcript_exon_variant,,ENST00000476326,;WDR4,non_coding_transcript_exon_variant,,ENST00000470658,;WDR4,non_coding_transcript_exon_variant,,ENST00000479429,;WDR4,non_coding_transcript_exon_variant,,ENST00000463902,;NDUFV3,upstream_gene_variant,,ENST00000460259,;	uc002zci.2	c.102C>T	138/1471	1	1			c.102C>T						21	SNP	c.(100-102)AGC>AGT	49	49			ovary(1)	1	Broad	WD repeat domain 4 protein			44296865		0.303	ENSG00000160193	17037	g.chr21:44296865G>A	tRNA modification	cytoplasm|nucleoplasm	protein binding							86.838092	KEEP	7	26	-1	26	33	7	26	-1	88.131582	26	33	0.365854	1	0	0	0	0	0	0	1	0	--	--		0	A			WDR4_uc002zck.1_Silent_p.S34S|WDR4_uc002zcl.1_5'UTR|WDR4_uc010gpg.1_Silent_p.S34S|WDR4_uc011aew.1_5'UTR|WDR4_uc010gph.1_5'UTR	89	GBM-06-2567-TP	p.S34S	G	AGATGAAGAGGCTGTCATCAT	NM_033661	NP_387510	44296865	P57081	WDR4_HUMAN	0		Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)	2	175	-	A	A			Silent	34						
WDR43	23160	broad.mit.edu	GRCh37	2	29158460	29158460	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0128-01	TCGA-06-0128-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000407426.3:c.1511C>T	p.Pro504Leu	p.P504L	ENST00000407426	NM_015131.1	504	cCg/cTg	0	T:0.0003		1			T	P/L	uc002rmo.2	protein_coding	YES	CCDS46251.1			1511/2034									ovary(1)	1	c.(1510-1512)CCG>CTG			Pfam_domain:PF04003,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF406	WD repeat domain 43			T:0	ENSP00000384302		18-Dec	8.28E-06	0.000102							rs376467674,COSM3407809	18-Dec	.		ENST00000407426	Transcript				nucleolus		ENSG00000163811	g.chr2:29158460C>T	28945			MODERATE		2.135	medium	getma.org/?cm=msa&ty=f&p=WDR43_HUMAN&rb=473&re=579&var=P504L	NA	getma.org/?cm=var&var=hg19,2,29158460,C,T&fts=all	P504L	--	--	1																																			0,1	1		probably_damaging(0.924)	p.P504L	NM_015131	NP_055946		tolerated(0.13)	0,1	WDR43_HUMAN	WDR43	HGNC	Q15061	WDR43_HUMAN			C9JH61_HUMAN,C9JEE7_HUMAN,C9IZK7_HUMAN		12	1543	+	Acute lymphoblastic leukemia(172;0.155)		UPI00001C1DCD	504					SNV	WDR43,missense_variant,p.Pro504Leu,ENST00000407426,NM_015131.1;WDR43,missense_variant,p.Pro56Leu,ENST00000446643,;WDR43,non_coding_transcript_exon_variant,,ENST00000466067,;	uc002rmo.2	c.1511C>T	1567/3533	1	1			c.1511C>T						2	SNP	c.(1510-1512)CCG>CTG	7	7			ovary(1)	1	Broad	WD repeat domain 43			29158460		0.328	ENSG00000163811	17039	g.chr2:29158460C>T		nucleolus								65.58237	KEEP	17	15	-1	51	59	17	15	-1	75.253532	51	59	0.209677	1	0	0	0	0	1	0	0	0	--	--		0	T				14	GBM-06-0128-TP	p.P504L	C	ACTATTATTCCGTTGTTACAA	NM_015131	NP_055946	29158460	Q15061	WDR43_HUMAN	0			12	1543	+	T	T	Acute lymphoblastic leukemia(172;0.155)		Missense_Mutation	504						
WDR44	0	broad.mit.edu	GRCh37	X	117527112	117527112	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01	TCGA-12-0821-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254029.3:c.704G>A	p.Arg235His	p.R235H	ENST00000254029	NM_019045.4	235	cGc/cAc	0			1			A	R/H	uc004eqn.2	protein_coding	YES	CCDS14572.1			704/2742									lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5	c.(703-705)CGC>CAC			hmmpanther:PTHR14221,hmmpanther:PTHR14221:SF0,Low_complexity_(Seg):seg	WD repeat domain 44 protein				ENSP00000254029		20-Apr									COSM3748179,COSM3748180	20-Apr	.		ENST00000254029	Transcript				cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		ENSG00000131725	g.chrX:117527112G>A	30512			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=WDR44_HUMAN&rb=131&re=347&var=R235H	NA	getma.org/?cm=var&var=hg19,X,117527112,G,A&fts=all	R235H	--	--	1																																		WDR44_uc004eqo.2_Missense_Mutation_p.R235H|WDR44_uc011mtr.1_Missense_Mutation_p.R210H|WDR44_uc010nqi.2_5'UTR	1,1	1		probably_damaging(0.985)	p.R235H	NM_019045	NP_061918		deleterious_low_confidence(0)	1,1	WDR44_HUMAN	WDR44	HGNC	Q5JSH3	WDR44_HUMAN			B7Z947_HUMAN		4	1129	+			UPI000013CE0C	235			Pro-rich.		SNV	WDR44,missense_variant,p.Arg235His,ENST00000254029,NM_019045.4;WDR44,missense_variant,p.Arg235His,ENST00000371825,NM_001184965.1;WDR44,missense_variant,p.Arg210His,ENST00000371822,NM_001184966.1;WDR44,missense_variant,p.Arg135His,ENST00000371848,;WDR44,non_coding_transcript_exon_variant,,ENST00000493448,;	uc004eqn.2	c.704G>A	1099/4111	2	2			c.704G>A						23	SNP	c.(703-705)CGC>CAC	22	22			lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5	Broad	WD repeat domain 44 protein			117527112		0.522	ENSG00000131725	17040	g.chrX:117527112G>A		cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm								663.636551	KEEP	145	87	-1	12	8	145	87	-1	698.530658	12	8	0.915929	1	0	0	0	0	1	0	0	0	--	--		0	A			WDR44_uc004eqo.2_Missense_Mutation_p.R235H|WDR44_uc011mtr.1_Missense_Mutation_p.R210H|WDR44_uc010nqi.2_5'UTR	123	GBM-12-0821-TP	p.R235H	G	GTTCCAGCACGCCCACCTCCT	NM_019045	NP_061918	117527112	Q5JSH3	WDR44_HUMAN	0			4	1129	+	A	A			Missense_Mutation	235			Pro-rich.			
WDR45	0	broad.mit.edu	GRCh37	X	48935362	48935362	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01	TCGA-14-3476-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376372.3:c.175C>T	p.Arg59Cys	p.R59C	ENST00000376372	NM_001029896.1	59	Cgc/Tgc	0			1			A	R/C	uc004dmk.1	protein_coding		CCDS35250.1			175/1083									ovary(1)	1	c.(175-177)CGC>TGC			hmmpanther:PTHR11227,hmmpanther:PTHR11227:SF26,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	WD repeat domain 45 isoform 2				ENSP00000365551		11-Apr									COSM3406441,COSM3406440	11-Apr	.		ENST00000376372	Transcript	1		autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	ENSG00000196998	g.chrX:48935362G>A	28912			MODERATE		1.68	low	getma.org/?cm=msa&ty=f&p=WIPI4_HUMAN&rb=1&re=182&var=R59C	getma.org/pdb.php?prot=WIPI4_HUMAN&from=1&to=182&var=R59C	getma.org/?cm=var&var=hg19,X,48935362,G,A&fts=all	R59C	--	--	1																																		PRAF2_uc011mmt.1_Intron|WDR45_uc004dmj.1_Missense_Mutation_p.R9C|WDR45_uc004dml.1_Missense_Mutation_p.R59C|WDR45_uc004dmm.1_Intron|WDR45_uc010nim.1_Missense_Mutation_p.R59C|WDR45_uc004dmn.1_5'UTR|WDR45_uc004dmo.1_Missense_Mutation_p.R81C|WDR45_uc004dmp.1_Missense_Mutation_p.R59C|WDR45_uc011mmu.1_Missense_Mutation_p.R59C	1,1			benign(0.204)	p.R59C	NM_001029896	NP_001025067		deleterious(0)	1,1	WIPI4_HUMAN	WDR45	HGNC	Q9Y484	WIPI4_HUMAN			C9J7Q8_HUMAN		4	347	-			UPI0000071006	59					SNV	WDR45,missense_variant,p.Arg59Cys,ENST00000356463,NM_007075.3;WDR45,missense_variant,p.Arg59Cys,ENST00000376372,NM_001029896.1;WDR45,missense_variant,p.Arg59Cys,ENST00000322995,;WDR45,missense_variant,p.Arg59Cys,ENST00000376368,;WDR45,missense_variant,p.Arg59Cys,ENST00000396681,;WDR45,missense_variant,p.Arg59Cys,ENST00000473974,;WDR45,missense_variant,p.Arg16Cys,ENST00000367375,;WDR45,missense_variant,p.Arg59Cys,ENST00000474053,;WDR45,missense_variant,p.Arg59Cys,ENST00000419567,;WDR45,missense_variant,p.Arg59Cys,ENST00000471338,;WDR45,missense_variant,p.Arg59Cys,ENST00000465382,;WDR45,intron_variant,,ENST00000485908,;WDR45,intron_variant,,ENST00000553851,;AF196779.12,intron_variant,,ENST00000376358,;WDR45,intron_variant,,ENST00000475880,;WDR45,intron_variant,,ENST00000476728,;PRAF2,upstream_gene_variant,,ENST00000376390,NM_007213.1;PRAF2,upstream_gene_variant,,ENST00000376386,;WDR45,downstream_gene_variant,,ENST00000423215,;WDR45,upstream_gene_variant,,ENST00000486337,;WDR45,upstream_gene_variant,,ENST00000475977,;RNU4-52P,upstream_gene_variant,,ENST00000384209,;WDR45,intron_variant,,ENST00000465431,;WDR45,downstream_gene_variant,,ENST00000460501,;PRAF2,upstream_gene_variant,,ENST00000491199,;WDR45,non_coding_transcript_exon_variant,,ENST00000465806,;WDR45,non_coding_transcript_exon_variant,,ENST00000496803,;WDR45,non_coding_transcript_exon_variant,,ENST00000376357,;WDR45,upstream_gene_variant,,ENST00000433252,;WDR45,upstream_gene_variant,,ENST00000472654,;WDR45,upstream_gene_variant,,ENST00000480412,;	uc004dmk.1	c.175C>T	357/1626	1	1			c.175C>T						23	SNP	c.(175-177)CGC>TGC	64	64			ovary(1)	1	Broad	WD repeat domain 45 isoform 2			48935362		0.607	ENSG00000196998	17041	g.chrX:48935362G>A	autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding							47.921934	KEEP	10	6	-1	1	0	10	6	-1	50.136139	1	0	0.928571	1	0	0	0	0	1	0	0	0	--	--		0	A			PRAF2_uc011mmt.1_Intron|WDR45_uc004dmj.1_Missense_Mutation_p.R9C|WDR45_uc004dml.1_Missense_Mutation_p.R59C|WDR45_uc004dmm.1_Intron|WDR45_uc010nim.1_Missense_Mutation_p.R59C|WDR45_uc004dmn.1_5'UTR|WDR45_uc004dmo.1_Missense_Mutation_p.R81C|WDR45_uc004dmp.1_Missense_Mutation_p.R59C|WDR45_uc011mmu.1_Missense_Mutation_p.R59C	151	GBM-14-3476-TP	p.R59C	G	AGGTTGGAGCGGTGCAGCATC	NM_001029896	NP_001025067	48935362	Q9Y484	WIPI4_HUMAN	0			4	347	-	A	A			Missense_Mutation	59						
WDR46	0	broad.mit.edu	GRCh37	6	33255194	33255194	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs141256696	byFrequency	TCGA-32-4719-01	TCGA-32-4719-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374617.4:c.817C>T	p.Arg273Cys	p.R273C	ENST00000374617	NM_005452.5	273	Cgc/Tgc	0	A:0.0009		1			A	R/C	uc003ods.2	protein_coding	YES	CCDS4772.1			817/1833										0	c.(817-819)CGC>TGC			PROSITE_profiles:PS50294,hmmpanther:PTHR14085,hmmpanther:PTHR14085:SF3,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	WD repeat domain 46 isoform 1			A:0	ENSP00000363746		15-Aug	4.12E-05	0.000288				1.50E-05		6.06E-05	rs141256696,COSM2157436	15-Aug	.		ENST00000374617	Transcript						ENSG00000227057	g.chr6:33255194G>A	13923			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=WDR46_HUMAN&rb=201&re=348&var=R273C	NA	getma.org/?cm=var&var=hg19,6,33255194,G,A&fts=all	R273C	--	--	1																																		WDR46_uc011dra.1_Missense_Mutation_p.R219C|WDR46_uc010juo.1_RNA|PFDN6_uc003odt.1_5'Flank|PFDN6_uc010jup.1_5'Flank	0,1	1		probably_damaging(0.991)	p.R273C	NM_005452	NP_005443		deleterious(0)	0,1	WDR46_HUMAN	WDR46	HGNC	O15213	WDR46_HUMAN					8	861	-			UPI000045741F	273					SNV	WDR46,missense_variant,p.Arg273Cys,ENST00000374617,NM_005452.5,NM_001164267.1;WDR46,missense_variant,p.Arg200Cys,ENST00000444176,;RGL2,downstream_gene_variant,,ENST00000497454,NM_004761.4,NM_001243738.1;PFDN6,upstream_gene_variant,,ENST00000463584,;PFDN6,upstream_gene_variant,,ENST00000395131,;PFDN6,upstream_gene_variant,,ENST00000374606,NM_001185181.2;PFDN6,upstream_gene_variant,,ENST00000374607,NM_014260.3,NM_001265595.1,NM_001265596.1;PFDN6,upstream_gene_variant,,ENST00000374610,;RGL2,downstream_gene_variant,,ENST00000437840,;RGL2,downstream_gene_variant,,ENST00000491168,;RGL2,downstream_gene_variant,,ENST00000471319,;WDR46,downstream_gene_variant,,ENST00000477718,;B3GALT4,downstream_gene_variant,,ENST00000606990,;WDR46,downstream_gene_variant,,ENST00000468157,;WDR46,non_coding_transcript_exon_variant,,ENST00000489905,;WDR46,non_coding_transcript_exon_variant,,ENST00000488944,;RGL2,downstream_gene_variant,,ENST00000483151,;PFDN6,upstream_gene_variant,,ENST00000491382,;PFDN6,upstream_gene_variant,,ENST00000395134,;WDR46,downstream_gene_variant,,ENST00000481025,;	uc003ods.2	c.817C>T	1174/2358	2	2			c.817C>T						6	SNP	c.(817-819)CGC>TGC	21	21				0	Broad	WD repeat domain 46 isoform 1			33255194		0.572	ENSG00000227057	17043	g.chr6:33255194G>A										95.003116	KEEP	18	14	-1	17	23	18	14	-1	95.019289	17	23	0.518519	1	0	0	0	0	1	0	0	0	--	--		0	A			WDR46_uc011dra.1_Missense_Mutation_p.R219C|WDR46_uc010juo.1_RNA|PFDN6_uc003odt.1_5'Flank|PFDN6_uc010jup.1_5'Flank	248	GBM-32-4719-TP	p.R273C	G	TCACAGCGGCGGATACAGTGG	NM_005452	NP_005443	33255194	O15213	WDR46_HUMAN	0			8	861	-	A	A			Missense_Mutation	273						
WDR47	0	broad.mit.edu	GRCh37	1	109553699	109553699	+	synonymous_variant	Silent	SNP	T	T	A			TCGA-27-2524-01	TCGA-27-2524-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369962.3:c.969A>T	p.Gly323=	p.G323=	ENST00000369962		323	ggA/ggT	0			1			A	G	uc001dwj.2	protein_coding		CCDS44187.1			969/2760									ovary(1)	1	c.(967-969)GGA>GGT			hmmpanther:PTHR19863	WD repeat domain 47 isoform 3				ENSP00000358979		15-May									COSM3399521,COSM3399520	15-May	.		ENST00000369962	Transcript						ENSG00000085433	g.chr1:109553699T>A	29141			LOW								--	--	1																																		WDR47_uc001dwl.2_Silent_p.G330G|WDR47_uc001dwi.2_Silent_p.G323G|WDR47_uc001dwk.2_Silent_p.G295G|WDR47_uc010ovf.1_Silent_p.G250G	1,1				p.G323G	NM_001142551	NP_001136023			1,1	WDR47_HUMAN	WDR47	HGNC	O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	E9PR96_HUMAN,E9PNF6_HUMAN,E9PN15_HUMAN,E9PKZ6_HUMAN,B4DHA1_HUMAN		5	1345	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	UPI0000139DD3	323					SNV	WDR47,synonymous_variant,p.=,ENST00000357672,;WDR47,synonymous_variant,p.=,ENST00000369965,NM_001142551.1,NM_014969.5,NM_001142550.1;WDR47,synonymous_variant,p.=,ENST00000369962,;WDR47,synonymous_variant,p.=,ENST00000400794,;WDR47,synonymous_variant,p.=,ENST00000361054,;WDR47,downstream_gene_variant,,ENST00000529074,;WDR47,downstream_gene_variant,,ENST00000528747,;WDR47,downstream_gene_variant,,ENST00000530772,;WDR47,downstream_gene_variant,,ENST00000531337,;	uc001dwj.2	c.969A>T	1192/4199	2	2			c.969A>T						1	SNP	c.(967-969)GGA>GGT	21	21			ovary(1)	1	Broad	WD repeat domain 47 isoform 3			109553699		0.448	ENSG00000085433	17044	g.chr1:109553699T>A										562.997702	KEEP	105	103	-1	173	147	105	103	-1	567.624518	173	147	0.395445	1	0	0	0	0	0	0	1	0	--	--		0	A			WDR47_uc001dwl.2_Silent_p.G330G|WDR47_uc001dwi.2_Silent_p.G323G|WDR47_uc001dwk.2_Silent_p.G295G|WDR47_uc010ovf.1_Silent_p.G250G	202	GBM-27-2524-TP	p.G323G	T	GACTGGTTAGTCCACAGGTGA	NM_001142551	NP_001136023	109553699	O94967	WDR47_HUMAN	0		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	5	1345	-	A	A		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	Silent	323						
WDR48	0	broad.mit.edu	GRCh37	3	39126186	39126186	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-27-2528-01	TCGA-27-2528-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302313.5:c.1332T>G	p.Ser444=	p.S444=	ENST00000302313	NM_020839.2	444	tcT/tcG	0			1			G	S	uc003cit.2	protein_coding	YES	CCDS33738.1			1332/2034									ovary(1)|breast(1)	2	c.(1330-1332)TCT>TCG			Pfam_domain:PF11816,hmmpanther:PTHR19862	WD repeat domain 48				ENSP00000307491		13/19									COSM3408652	13/19	.		ENST00000302313	Transcript	1		interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding	ENSG00000114742	g.chr3:39126186T>G	30914			LOW								--	--	1																																		WDR48_uc011ayt.1_Silent_p.S435S|WDR48_uc011ayu.1_Silent_p.S362S|WDR48_uc011ayv.1_Silent_p.S169S|WDR48_uc003ciu.2_RNA	1	1			p.S444S	NM_020839	NP_065890			1	WDR48_HUMAN	WDR48	HGNC	Q8TAF3	WDR48_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	F8W7Y5_HUMAN,C9JC24_HUMAN		13	1342	+			UPI000006FF8C	444					SNV	WDR48,synonymous_variant,p.=,ENST00000302313,NM_020839.2;WDR48,synonymous_variant,p.=,ENST00000396258,;WDR48,synonymous_variant,p.=,ENST00000544962,;WDR48,5_prime_UTR_variant,,ENST00000418020,;WDR48,non_coding_transcript_exon_variant,,ENST00000463198,;WDR48,upstream_gene_variant,,ENST00000466405,;WDR48,upstream_gene_variant,,ENST00000477197,;WDR48,downstream_gene_variant,,ENST00000489838,;WDR48,3_prime_UTR_variant,,ENST00000420940,;WDR48,3_prime_UTR_variant,,ENST00000413099,;	uc003cit.2	c.1332T>G	1360/3707	3	3			c.1332T>G						3	SNP	c.(1330-1332)TCT>TCG	49	49			ovary(1)|breast(1)	2	Broad	WD repeat domain 48			39126186		0.363	ENSG00000114742	17045	g.chr3:39126186T>G	interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding							75.84143	KEEP	18	15	-1	53	50	18	15	-1	82.560889	53	50	0.245614	1	0	0	0	0	0	0	1	0	--	--		0	G			WDR48_uc011ayt.1_Silent_p.S435S|WDR48_uc011ayu.1_Silent_p.S362S|WDR48_uc011ayv.1_Silent_p.S169S|WDR48_uc003ciu.2_RNA	205	GBM-27-2528-TP	p.S444S	T	CCTGGGTTTCTGCAAAAGATG	NM_020839	NP_065890	39126186	Q8TAF3	WDR48_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	13	1342	+	G	G			Silent	444						
WDR62	0	broad.mit.edu	GRCh37	19	36583666	36583668	+	inframe_deletion	In_Frame_Del	DEL	GCA	GCA	-			TCGA-26-1439-01	TCGA-26-1439-01	GCA	GCA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000270301.7:c.2298_2300delGCA	p.Gln766del	p.Q766del	ENST00000270301		762	cgGCAg/cgg	0			1			-	RQ/R	uc002odc.2	protein_coding		CCDS33001.1			2286-2288/4557										0	c.(2284-2289)CGGCAG>CGG			hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF362	WD repeat domain 62 isoform 2				ENSP00000270301		19/32	3.29E-05	0.000193							rs746278209	19/32	.		ENST00000270301	Transcript	1		cerebral cortex development	nucleus		ENSG00000075702	g.chr19:36583666_36583668delGCA	24502	12		MODERATE								--	--	1																																		WDR62_uc002odd.2_In_Frame_Del_p.Q766del					p.Q766del	NM_173636	NP_775907				WDR62_HUMAN	WDR62	HGNC	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)				19	2377_2379	+	Esophageal squamous(110;0.162)		UPI0000DBEE90	766					deletion	WDR62,inframe_deletion,p.Gln766del,ENST00000401500,NM_001083961.1,NM_173636.4;WDR62,inframe_deletion,p.Gln766del,ENST00000270301,;WDR62,3_prime_UTR_variant,,ENST00000587391,;	uc002odc.2	c.2286_2288delGCA	2286-2288/4632	5	5			c.2286_2288delGCA						19	DEL	c.(2284-2289)CGGCAG>CGG	17	17				0	Broad	WD repeat domain 62 isoform 2			36583668		0.567	ENSG00000075702	17057	g.chr19:36583666_36583668delGCA	cerebral cortex development	nucleus																					0.03	1	1	0	1	0	0	0	0	0	--	--		0	-			WDR62_uc002odd.2_In_Frame_Del_p.Q766del	179	GBM-26-1439-TP	p.Q766del	GCA	TTGACCACCGGCAGCAGCAGCAG	NM_173636	NP_775907	36583666	O43379	WDR62_HUMAN	0	LUSC - Lung squamous cell carcinoma(66;0.06)		19	2377_2379	+	-	-	Esophageal squamous(110;0.162)		In_Frame_Del	766						
WDR63	126820	broad.mit.edu	GRCh37	1	85551548	85551548	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-02-2483-01	TCGA-02-2483-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294664.6:c.575T>A	p.Phe192Tyr	p.F192Y	ENST00000294664	NM_145172.3	192	tTt/tAt	0			1			A	F/Y	uc001dkt.2	protein_coding	YES	CCDS702.1			575/2676									upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5	c.(574-576)TTT>TAT			hmmpanther:PTHR12442:SF5,hmmpanther:PTHR12442	WD repeat domain 63				ENSP00000294664		23-Jul	8.24E-06					1.50E-05			rs749489917,COSM3401046	23-Jul	.		ENST00000294664	Transcript						ENSG00000162643	g.chr1:85551548T>A	30711			MODERATE		2.25	medium	getma.org/?cm=msa&ty=f&p=WDR63_HUMAN&rb=1&re=200&var=F192Y	NA	getma.org/?cm=var&var=hg19,1,85551548,T,A&fts=all	F192Y	--	--	1																																		WDR63_uc009wcl.2_Missense_Mutation_p.F192Y	0,1	1		possibly_damaging(0.814)	p.F192Y	NM_145172	NP_660155		deleterious(0)	0,1	WDR63_HUMAN	WDR63	HGNC	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)			7	766	+			UPI00000744F1	192					SNV	WDR63,missense_variant,p.Phe192Tyr,ENST00000294664,NM_145172.3;WDR63,missense_variant,p.Phe192Tyr,ENST00000370596,;WDR63,missense_variant,p.Phe192Tyr,ENST00000326813,NM_001288563.1;WDR63,downstream_gene_variant,,ENST00000528899,;WDR63,missense_variant,p.Phe192Tyr,ENST00000464801,;	uc001dkt.2	c.575T>A	755/2995	2	2			c.575T>A						1	SNP	c.(574-576)TTT>TAT	33	33			upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5	Broad	WD repeat domain 63			85551548		0.313	ENSG00000162643	17058	g.chr1:85551548T>A										-26.15308	KEEP	1	4	-1	74	84	1	4	-1	8.623876	74	84	0.034014	1	0	0	0	0	1	0	0	0	--	--		0	A			WDR63_uc009wcl.2_Missense_Mutation_p.F192Y	6	GBM-02-2483-TP	p.F192Y	T	CGAAGTGAATTTGGTGCACCA	NM_145172	NP_660155	85551548	Q8IWG1	WDR63_HUMAN	0		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	7	766	+	A	A			Missense_Mutation	192						
WDR63	126820	broad.mit.edu	GRCh37	1	85560129	85560129	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01	TCGA-06-2559-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294664.6:c.1064C>T	p.Ser355Leu	p.S355L	ENST00000294664	NM_145172.3	355	tCg/tTg	0			1			T	S/L	uc001dkt.2	protein_coding	YES	CCDS702.1			1064/2676									upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5	c.(1063-1065)TCG>TTG			Superfamily_domains:SSF50978,Gene3D:2.130.10.10,hmmpanther:PTHR12442:SF5,hmmpanther:PTHR12442	WD repeat domain 63				ENSP00000294664		23-Oct	8.24E-06	9.62E-05							rs200151954,COSM3401048	23-Oct	.		ENST00000294664	Transcript						ENSG00000162643	g.chr1:85560129C>T	30711			MODERATE		2.91	medium	getma.org/?cm=msa&ty=f&p=WDR63_HUMAN&rb=201&re=400&var=S355L	NA	getma.org/?cm=var&var=hg19,1,85560129,C,T&fts=all	S355L	--	--	1																																		WDR63_uc009wcl.2_Missense_Mutation_p.S316L	0,1	1		probably_damaging(0.954)	p.S355L	NM_145172	NP_660155		deleterious(0)	0,1	WDR63_HUMAN	WDR63	HGNC	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)			10	1255	+			UPI00000744F1	355					SNV	WDR63,missense_variant,p.Ser355Leu,ENST00000294664,NM_145172.3;WDR63,missense_variant,p.Ser316Leu,ENST00000370596,;WDR63,missense_variant,p.Ser316Leu,ENST00000326813,NM_001288563.1;WDR63,3_prime_UTR_variant,,ENST00000464801,;	uc001dkt.2	c.1064C>T	1244/2995	1	1			c.1064C>T						1	SNP	c.(1063-1065)TCG>TTG	9	9			upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5	Broad	WD repeat domain 63			85560129		0.418	ENSG00000162643	17058	g.chr1:85560129C>T										-95.876806	KEEP	7	15	-1	299	299	7	15	-1	30.339904	299	299	0.032197	1	0	0	0	0	1	0	0	0	--	--		0	T			WDR63_uc009wcl.2_Missense_Mutation_p.S316L	83	GBM-06-2559-TP	p.S355L	C	ATAGCTGTGTCGGTAGCCGTG	NM_145172	NP_660155	85560129	Q8IWG1	WDR63_HUMAN	0		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	10	1255	+	T	T			Missense_Mutation	355						
WDR63	0	broad.mit.edu	GRCh37	1	85595746	85595746	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6700-01	TCGA-06-6700-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294664.6:c.2483G>A	p.Arg828His	p.R828H	ENST00000294664	NM_145172.3	828	cGt/cAt	0		A:0	1	A:0		A	R/H	uc001dkt.2	protein_coding	YES	CCDS702.1			2483/2676									upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5	c.(2482-2484)CGT>CAT			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12442:SF5,hmmpanther:PTHR12442	WD repeat domain 63		A:0.001		ENSP00000294664	A:0	22/23	4.12E-05		8.66E-05	0.000116		3.00E-05		6.06E-05	rs199645222,COSM2243944	22/23	.		ENST00000294664	Transcript		A:0.0002				ENSG00000162643	g.chr1:85595746G>A	30711			MODERATE		2.03	medium	getma.org/?cm=msa&ty=f&p=WDR63_HUMAN&rb=725&re=891&var=R828H	NA	getma.org/?cm=var&var=hg19,1,85595746,G,A&fts=all	R828H	--	--	1																																		WDR63_uc009wcl.2_Missense_Mutation_p.R789H	0,1	1		possibly_damaging(0.548)	p.R828H	NM_145172	NP_660155	A:0	tolerated(0.14)	0,1	WDR63_HUMAN	WDR63	HGNC	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)			22	2674	+			UPI00000744F1	828			Potential.		SNV	WDR63,missense_variant,p.Arg828His,ENST00000294664,NM_145172.3;WDR63,missense_variant,p.Arg789His,ENST00000370596,;WDR63,missense_variant,p.Arg789His,ENST00000326813,NM_001288563.1;WDR63,missense_variant,p.Arg110His,ENST00000484007,;MIR4423,upstream_gene_variant,,ENST00000580922,;WDR63,3_prime_UTR_variant,,ENST00000464801,;	uc001dkt.2	c.2483G>A	2663/2995	2	2			c.2483G>A						1	SNP	c.(2482-2484)CGT>CAT	41	41			upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5	Broad	WD repeat domain 63			85595746		0.363	ENSG00000162643	17058	g.chr1:85595746G>A										72.749515	KEEP	23	15	-1	74	75	23	15	-1	87.186826	74	75	0.19883	1	0	0	0	0	1	0	0	0	--	--		0	A			WDR63_uc009wcl.2_Missense_Mutation_p.R789H	114	GBM-06-6700-TP	p.R828H	G	AAAAAAATTCGTGAGCAAGAA	NM_145172	NP_660155	85595746	Q8IWG1	WDR63_HUMAN	0		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	22	2674	+	A	A			Missense_Mutation	828			Potential.			
WDR63	0	broad.mit.edu	GRCh37	1	85564213	85564213	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G			TCGA-28-2502-01	TCGA-28-2502-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294664.6:c.1351C>G	p.Pro451Ala	p.P451A	ENST00000294664	NM_145172.3	451	Cct/Gct	0			1			G	P/A	uc001dkt.2	protein_coding	YES	CCDS702.1			1351/2676									upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5	c.(1351-1353)CCT>GCT			Superfamily_domains:SSF50978,Gene3D:2.130.10.10,hmmpanther:PTHR12442:SF5,hmmpanther:PTHR12442	WD repeat domain 63				ENSP00000294664		13/23									COSM2243923	13/23	.		ENST00000294664	Transcript						ENSG00000162643	g.chr1:85564213C>G	30711			MODERATE		1.54	low	getma.org/?cm=msa&ty=f&p=WDR63_HUMAN&rb=401&re=469&var=P451A	NA	getma.org/?cm=var&var=hg19,1,85564213,C,G&fts=all	P451A	--	--	1																																		WDR63_uc009wcl.2_Missense_Mutation_p.P412A	1	1		benign(0.298)	p.P451A	NM_145172	NP_660155		tolerated(0.11)	1	WDR63_HUMAN	WDR63	HGNC	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)			13	1542	+			UPI00000744F1	451					SNV	WDR63,missense_variant,p.Pro451Ala,ENST00000294664,NM_145172.3;WDR63,missense_variant,p.Pro412Ala,ENST00000370596,;WDR63,missense_variant,p.Pro412Ala,ENST00000326813,NM_001288563.1;WDR63,splice_region_variant,,ENST00000464801,;	uc001dkt.2	c.1351C>G	1531/2995	4	4			c.1351C>G						1	SNP	c.(1351-1353)CCT>GCT	17	17			upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5	Broad	WD repeat domain 63			85564213		0.318	ENSG00000162643	17058	g.chr1:85564213C>G										134.809866	KEEP	25	24	-1	61	85	25	24	-1	145.698485	61	85	0.243094	1	0	0	0	0	1	0	0	0	--	--		0	G			WDR63_uc009wcl.2_Missense_Mutation_p.P412A	210	GBM-28-2502-TP	p.P451A	C	TATTTTTCAGCCTATGTTTCT	NM_145172	NP_660155	85564213	Q8IWG1	WDR63_HUMAN	0		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	13	1542	+	G	G			Missense_Mutation	451						
WDR63	0	broad.mit.edu	GRCh37	1	85592202	85592202	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-3915-01	TCGA-41-3915-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000294664.6:c.2121G>A	p.Pro707=	p.P707=	ENST00000294664	NM_145172.3	707	ccG/ccA	0			1			A	P	uc001dkt.2	protein_coding	YES	CCDS702.1			2121/2676									upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5	c.(2119-2121)CCG>CCA			Superfamily_domains:SSF50978,Gene3D:2.130.10.10,hmmpanther:PTHR12442:SF5,hmmpanther:PTHR12442	WD repeat domain 63				ENSP00000294664		20/23									COSM3401049	20/23	.		ENST00000294664	Transcript						ENSG00000162643	g.chr1:85592202G>A	30711			LOW								--	--	1																																		WDR63_uc009wcl.2_Silent_p.P668P	1	1			p.P707P	NM_145172	NP_660155			1	WDR63_HUMAN	WDR63	HGNC	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)			20	2312	+			UPI00000744F1	707			WD 3.		SNV	WDR63,synonymous_variant,p.=,ENST00000294664,NM_145172.3;WDR63,synonymous_variant,p.=,ENST00000370596,;WDR63,synonymous_variant,p.=,ENST00000326813,NM_001288563.1;WDR63,upstream_gene_variant,,ENST00000484007,;WDR63,3_prime_UTR_variant,,ENST00000464801,;	uc001dkt.2	c.2121G>A	2301/2995	1	1			c.2121G>A						1	SNP	c.(2119-2121)CCG>CCA	59	59			upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5	Broad	WD repeat domain 63			85592202		0.423	ENSG00000162643	17058	g.chr1:85592202G>A										46.45464	KEEP	8	12	-1	25	19	8	12	-1	48.382477	25	19	0.303571	1	0	0	0	0	0	0	1	0	--	--		0	A			WDR63_uc009wcl.2_Silent_p.P668P	256	GBM-41-3915-TP	p.P707P	G	AGACTGGACCGCTCCTTCAGT	NM_145172	NP_660155	85592202	Q8IWG1	WDR63_HUMAN	0		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	20	2312	+	A	A			Silent	707			WD 3.			
WDR64	128025	broad.mit.edu	GRCh37	1	241946599	241946599	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs141496101	by1000genomes	TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366552.2:c.2591G>A	p.Arg864His	p.R864H	ENST00000366552	NM_144625.4	864	cGt/cAt	0	A:0.0005	A:0.0008	1	A:0		A	R/H	uc001hzf.1	protein_coding	YES				2591/3246									skin(1)	1	c.(1249-1251)CGT>CAT			PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22844,hmmpanther:PTHR22844:SF138,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	WD repeat domain 64		A:0.002	A:0	ENSP00000355510	A:0	22/27	0.000412	0.000674	0.000519	0.00382		4.51E-05		6.06E-05	rs141496101,COSM1340662,COSM1340663	22/27	common_variant		ENST00000366552	Transcript		A:0.0006				ENSG00000162843	g.chr1:241946599G>A	26570			MODERATE		2.32	medium	getma.org/?cm=msa&ty=f&p=WDR64_HUMAN&rb=857&re=895&var=R864H	NA	getma.org/?cm=var&var=hg19,1,241946599,G,A&fts=all	R864H	--	--	1																																		WDR64_uc001hzg.1_Missense_Mutation_p.R330H	0,1,1	1		probably_damaging(0.988)	p.R417H	NM_144625	NP_653226	A:0	deleterious(0)	0,1,1	WDR64_HUMAN	WDR64	HGNC	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		D6RCR1_HUMAN		12	1403	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	UPI0000519142	864					SNV	WDR64,missense_variant,p.Arg864His,ENST00000366552,NM_144625.4;WDR64,missense_variant,p.Arg697His,ENST00000437684,;WDR64,missense_variant,p.Arg468His,ENST00000414635,;WDR64,missense_variant,p.Arg343His,ENST00000425826,;WDR64,missense_variant,p.Arg423His,ENST00000472717,;WDR64,3_prime_UTR_variant,,ENST00000468967,;WDR64,intron_variant,,ENST00000478331,;	uc001hzf.1	c.1250G>A	2798/4371	2	2			c.1250G>A						1	SNP	c.(1249-1251)CGT>CAT	29	29			skin(1)	1	Broad	WD repeat domain 64			241946599		0.373	ENSG00000162843	17059	g.chr1:241946599G>A										186.626346	KEEP	37	27	-1	11	5	37	27	-1	192.269069	11	5	0.797101	1	0	0	0	0	1	0	0	0	--	--		0	A			WDR64_uc001hzg.1_Missense_Mutation_p.R330H	102	GBM-06-5858-TP	p.R417H	G	CTTTCCTGGCGTGCTCATTCT	NM_144625	NP_653226	241946599	B1ANS9	WDR64_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		12	1403	+	A	A	Ovarian(103;0.103)	all_cancers(173;0.0121)	Missense_Mutation	864						
WDR64	0	broad.mit.edu	GRCh37	1	241959665	241959665	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2518-01	TCGA-27-2518-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366552.2:c.3155G>A	p.Arg1052His	p.R1052H	ENST00000366552	NM_144625.4	1052	cGt/cAt	0		A:0	1	A:0		A	R/H	uc001hzf.1	protein_coding	YES				3155/3246									skin(1)	1	c.(1813-1815)CGT>CAT				WD repeat domain 64		A:0		ENSP00000355510	A:0.001	26/27	8.24E-06			0.000117					rs185903348,COSM2157288,COSM2157289	26/27	.		ENST00000366552	Transcript		A:0.0002				ENSG00000162843	g.chr1:241959665G>A	26570			MODERATE		-0.92	neutral	getma.org/?cm=msa&ty=f&p=WDR64_HUMAN&rb=896&re=1081&var=R1052H	NA	getma.org/?cm=var&var=hg19,1,241959665,G,A&fts=all	R1052H	--	--	1																																		WDR64_uc001hzg.1_Missense_Mutation_p.R518H	0,1,1	1		benign(0)	p.R605H	NM_144625	NP_653226	A:0	tolerated(1)	0,1,1	WDR64_HUMAN	WDR64	HGNC	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		D6RCR1_HUMAN		16	1967	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	UPI0000519142	1052					SNV	WDR64,missense_variant,p.Arg1052His,ENST00000366552,NM_144625.4;WDR64,missense_variant,p.Arg885His,ENST00000437684,;WDR64,missense_variant,p.Arg656His,ENST00000414635,;WDR64,missense_variant,p.Arg531His,ENST00000425826,;WDR64,3_prime_UTR_variant,,ENST00000468967,;WDR64,downstream_gene_variant,,ENST00000472717,;	uc001hzf.1	c.1814G>A	3362/4371	1	1			c.1814G>A						1	SNP	c.(1813-1815)CGT>CAT	59	59			skin(1)	1	Broad	WD repeat domain 64			241959665		0.378	ENSG00000162843	17059	g.chr1:241959665G>A										36.728466	KEEP	8	10	-1	33	35	8	10	-1	42.647427	33	35	0.21519	1	0	0	0	0	1	0	0	0	--	--		0	A			WDR64_uc001hzg.1_Missense_Mutation_p.R518H	198	GBM-27-2518-TP	p.R605H	G	CATGTTCAACGTGAAAAAGTA	NM_144625	NP_653226	241959665	B1ANS9	WDR64_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		16	1967	+	A	A	Ovarian(103;0.103)	all_cancers(173;0.0121)	Missense_Mutation	1052						
WDR65	0	broad.mit.edu	GRCh37	1	43651007	43651007	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0139-01	TCGA-06-0139-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000528956.1:c.949C>A	p.Arg317Ser	p.R317S	ENST00000528956	NM_152498.3	317	Cgt/Agt	0			1			A	R/S	uc001cip.1	protein_coding					949/3753									skin(1)	1	c.(949-951)CGT>AGT			Gene3D:2.130.10.10,hmmpanther:PTHR32215:SF0,hmmpanther:PTHR32215	WD repeat domain 65				ENSP00000361570		23-May									COSM3400793	23-May	.		ENST00000372492	Transcript	1					ENSG00000243710	g.chr1:43651007C>A	26485			MODERATE		2.36	medium	getma.org/?cm=msa&ty=f&p=WDR65_HUMAN&rb=201&re=383&var=R317S	NA	getma.org/?cm=var&var=hg19,1,43651007,C,A&fts=all	R317S	--	--	1																																		EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Missense_Mutation_p.R306S|WDR65_uc001ciq.1_Missense_Mutation_p.R317S	1			benign(0.166)	p.R317S	NM_152498	NP_689711		deleterious(0.01)	1	WDR65_HUMAN	WDR65	HGNC	Q96MR6	WDR65_HUMAN			E9PRV3_HUMAN		5	1070	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	UPI0001D89705	317					SNV	WDR65,missense_variant,p.Arg317Ser,ENST00000372492,NM_001195831.2;WDR65,missense_variant,p.Arg317Ser,ENST00000528956,NM_152498.3,NM_001167965.1;WDR65,downstream_gene_variant,,ENST00000529956,;EBNA1BP2,intron_variant,,ENST00000461557,;EBNA1BP2,intron_variant,,ENST00000466927,;WDR65,3_prime_UTR_variant,,ENST00000533339,;WDR65,non_coding_transcript_exon_variant,,ENST00000534615,;WDR65,downstream_gene_variant,,ENST00000525227,;	uc001cip.1	c.949C>A	1273/4244	2	2			c.949C>A						1	SNP	c.(949-951)CGT>AGT	35	35			skin(1)	1	Broad	WD repeat domain 65			43651007		0.473	ENSG00000243710	17060	g.chr1:43651007C>A										-5.61644	KEEP	2	1	0.333333333	34	26	2	1	0.333333333	6.706842	34	26	0.051724	1	0	0	0	0	1	0	0	0	--	--		0	A			EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Missense_Mutation_p.R306S|WDR65_uc001ciq.1_Missense_Mutation_p.R317S	19	GBM-06-0139-TP	p.R317S	C	GGATTTTTACCGTGAGAGCAG	NM_152498	NP_689711	43651007	Q96MR6	WDR65_HUMAN	0			5	1070	+	A	A	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	Missense_Mutation	317						
WDR65	0	broad.mit.edu	GRCh37	1	43665064	43665064	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-06-0221-01	TCGA-06-0221-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000528956.1:c.1432T>A	p.Ser478Thr	p.S478T	ENST00000528956	NM_152498.3	478	Tcc/Acc	0			1			A	S/T	uc001cip.1	protein_coding					1432/3753									skin(1)	1	c.(1432-1434)TCC>ACC			Superfamily_domains:SSF50998,Gene3D:2.130.10.10,hmmpanther:PTHR32215:SF0,hmmpanther:PTHR32215	WD repeat domain 65				ENSP00000361570		23-Sep									COSM2151023	23-Sep	.		ENST00000372492	Transcript	1					ENSG00000243710	g.chr1:43665064T>A	26485			MODERATE		1.13	low	getma.org/?cm=msa&ty=f&p=WDR65_HUMAN&rb=418&re=501&var=S478T	NA	getma.org/?cm=var&var=hg19,1,43665064,T,A&fts=all	S478T	--	--	1																																		EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Missense_Mutation_p.S467T|WDR65_uc001ciq.1_Missense_Mutation_p.S478T	1			benign(0.009)	p.S478T	NM_152498	NP_689711		tolerated(0.17)	1	WDR65_HUMAN	WDR65	HGNC	Q96MR6	WDR65_HUMAN			E9PRV3_HUMAN		9	1553	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	UPI0001D89705	478			WD 7.		SNV	WDR65,missense_variant,p.Ser478Thr,ENST00000372492,NM_001195831.2;WDR65,missense_variant,p.Ser478Thr,ENST00000528956,NM_152498.3,NM_001167965.1;RNA5SP46,downstream_gene_variant,,ENST00000362370,;EBNA1BP2,intron_variant,,ENST00000461557,;EBNA1BP2,intron_variant,,ENST00000474566,;EBNA1BP2,intron_variant,,ENST00000466927,;WDR65,3_prime_UTR_variant,,ENST00000533339,;	uc001cip.1	c.1432T>A	1756/4244	2	2			c.1432T>A						1	SNP	c.(1432-1434)TCC>ACC	22	22			skin(1)	1	Broad	WD repeat domain 65			43665064		0.463	ENSG00000243710	17060	g.chr1:43665064T>A										256.814874	KEEP	54	55	-1	98	77	54	55	-1	260.312621	98	77	0.37247	1	0	0	0	0	1	0	0	0	--	--		0	A			EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Missense_Mutation_p.S467T|WDR65_uc001ciq.1_Missense_Mutation_p.S478T	53	GBM-06-0221-TP	p.S478T	T	CCTATAGTGTTCCTTTAGCAA	NM_152498	NP_689711	43665064	Q96MR6	WDR65_HUMAN	0			9	1553	+	A	A	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	Missense_Mutation	478			WD 7.			
WDR65	0	broad.mit.edu	GRCh37	1	43649424	43649424	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs142914910		TCGA-12-3653-01	TCGA-12-3653-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372492.4:c.637G>A	p.Val213Ile	p.V213I	ENST00000372492	NM_001195831.2	213	Gtt/Att	0	A:0.0007		1			A	V/I	uc001cip.1	protein_coding					637/3753									skin(1)	1	c.(637-639)GTT>ATT			Superfamily_domains:SSF50998,Gene3D:2.130.10.10,hmmpanther:PTHR32215:SF0,hmmpanther:PTHR32215	WD repeat domain 65			A:0	ENSP00000361570		23-Apr	2.47E-05	0.000288							rs142914910,COSM2170294	23-Apr	.		ENST00000372492	Transcript	1					ENSG00000243710	g.chr1:43649424G>A	26485			MODERATE		2.295	medium	getma.org/?cm=msa&ty=f&p=WDR65_HUMAN&rb=201&re=383&var=V213I	NA	getma.org/?cm=var&var=hg19,1,43649424,G,A&fts=all	V213I	--	--	1																																		EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Missense_Mutation_p.V202I|WDR65_uc001ciq.1_Missense_Mutation_p.V213I	0,1			benign(0.003)	p.V213I	NM_152498	NP_689711		tolerated(0.19)	0,1	WDR65_HUMAN	WDR65	HGNC	Q96MR6	WDR65_HUMAN			E9PRV3_HUMAN		4	758	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	UPI0001D89705	213			WD 3.		SNV	WDR65,missense_variant,p.Val213Ile,ENST00000372492,NM_001195831.2;WDR65,missense_variant,p.Val213Ile,ENST00000528956,NM_152498.3,NM_001167965.1;WDR65,downstream_gene_variant,,ENST00000529956,;EBNA1BP2,intron_variant,,ENST00000461557,;EBNA1BP2,intron_variant,,ENST00000466927,;WDR65,3_prime_UTR_variant,,ENST00000533339,;WDR65,upstream_gene_variant,,ENST00000534615,;WDR65,downstream_gene_variant,,ENST00000525227,;	uc001cip.1	c.637G>A	961/4244	1	1			c.637G>A						1	SNP	c.(637-639)GTT>ATT	63	63			skin(1)	1	Broad	WD repeat domain 65			43649424		0.502	ENSG00000243710	17060	g.chr1:43649424G>A										356.972482	KEEP	53	68	-1	46	69	53	68	-1	356.996945	46	69	0.511312	1	0	0	0	0	1	0	0	0	--	--		0	A			EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Missense_Mutation_p.V202I|WDR65_uc001ciq.1_Missense_Mutation_p.V213I	128	GBM-12-3653-TP	p.V213I	G	CAAGATTGTCGTTGGCACTGA	NM_152498	NP_689711	43649424	Q96MR6	WDR65_HUMAN	0			4	758	+	A	A	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	Missense_Mutation	213			WD 3.			
WDR65	0	broad.mit.edu	GRCh37	1	43663300	43663300	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01	TCGA-27-2519-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372492.4:c.1199G>A	p.Arg400His	p.R400H	ENST00000372492	NM_001195831.2	400	cGc/cAc	0	A:0		1			A	R/H	uc001cip.1	protein_coding					1199/3753									skin(1)	1	c.(1198-1200)CGC>CAC			Superfamily_domains:SSF50998,Superfamily_domains:0046204,SMART_domains:SM00320,Gene3D:2.130.10.10,Pfam_domain:PF00400,hmmpanther:PTHR32215:SF0,hmmpanther:PTHR32215,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294	WD repeat domain 65			A:0.0001	ENSP00000361570		23-Jul	1.65E-05					3.00E-05			rs372200685,COSM248333	23-Jul	.		ENST00000372492	Transcript	1					ENSG00000243710	g.chr1:43663300G>A	26485			MODERATE		2.285	medium	getma.org/?cm=msa&ty=f&p=WDR65_HUMAN&rb=384&re=417&var=R400H	NA	getma.org/?cm=var&var=hg19,1,43663300,G,A&fts=all	R400H	--	--	1																																		EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Missense_Mutation_p.R389H|WDR65_uc001ciq.1_Missense_Mutation_p.R400H	0,1			probably_damaging(0.999)	p.R400H	NM_152498	NP_689711		deleterious(0.01)	0,1	WDR65_HUMAN	WDR65	HGNC	Q96MR6	WDR65_HUMAN			E9PRV3_HUMAN		7	1320	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	UPI0001D89705	400			WD 5.		SNV	WDR65,missense_variant,p.Arg400His,ENST00000372492,NM_001195831.2;WDR65,missense_variant,p.Arg400His,ENST00000528956,NM_152498.3,NM_001167965.1;RNA5SP46,downstream_gene_variant,,ENST00000362370,;EBNA1BP2,intron_variant,,ENST00000461557,;EBNA1BP2,intron_variant,,ENST00000474566,;EBNA1BP2,intron_variant,,ENST00000466927,;WDR65,3_prime_UTR_variant,,ENST00000533339,;	uc001cip.1	c.1199G>A	1523/4244	2	2			c.1199G>A						1	SNP	c.(1198-1200)CGC>CAC	43	43			skin(1)	1	Broad	WD repeat domain 65			43663300		0.458	ENSG00000243710	17060	g.chr1:43663300G>A										-60.258568	KEEP	3	2	-1	136	157	3	2	-1	7.570996	136	157	0.019157	1	0	0	0	0	1	0	0	0	--	--		0	A			EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Missense_Mutation_p.R389H|WDR65_uc001ciq.1_Missense_Mutation_p.R400H	199	GBM-27-2519-TP	p.R400H	G	ACCTGCATCCGCAAACCCCTT	NM_152498	NP_689711	43663300	Q96MR6	WDR65_HUMAN	0			7	1320	+	A	A	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	Missense_Mutation	400			WD 5.			
WDR66	144406	broad.mit.edu	GRCh37	12	122437781	122437781	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0033-01	TCGA-02-0033-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288912.4:c.3166G>A	p.Gly1056Ser	p.G1056S	ENST00000288912	NM_144668.5	1056	Ggt/Agt	0			1			A	G/S	uc009zxk.2	protein_coding	YES	CCDS41853.1			3166/3450									ovary(1)|skin(1)	2	c.(3166-3168)GGT>AGT			hmmpanther:PTHR13720:SF13,hmmpanther:PTHR13720,Superfamily_domains:SSF47473	WD repeat domain 66				ENSP00000288912		20/22									COSM3398457	20/22	.		ENST00000288912	Transcript					calcium ion binding	ENSG00000158023	g.chr12:122437781G>A	28506			MODERATE		2.35	medium	getma.org/?cm=msa&ty=f&p=WDR66_HUMAN&rb=922&re=1121&var=G1056S	getma.org/pdb.php?prot=WDR66_HUMAN&from=922&to=1121&var=G1056S	getma.org/?cm=var&var=hg19,12,122437781,G,A&fts=all	G1056S	--	--	1																																			1	1		possibly_damaging(0.663)	p.G1056S	NM_144668	NP_653269		deleterious(0)	1	WDR66_HUMAN	WDR66	HGNC	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)			20	3308	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		UPI00001AEB2C	1056					SNV	WDR66,missense_variant,p.Gly1056Ser,ENST00000288912,NM_144668.5;WDR66,upstream_gene_variant,,ENST00000545988,;WDR66,non_coding_transcript_exon_variant,,ENST00000428465,;	uc009zxk.2	c.3166G>A	4020/4467	1	1			c.3166G>A						12	SNP	c.(3166-3168)GGT>AGT	56	56			ovary(1)|skin(1)	2	Broad	WD repeat domain 66			122437781		0.448	ENSG00000158023	17061	g.chr12:122437781G>A			calcium ion binding	Esophageal Squamous(85;849 1794 49757 52143)			Esophageal Squamous(85;849 1794 49757 52143)			46.533757	KEEP	15	13	-1	61	81	15	13	-1	62.190564	61	81	0.160839	1	0	0	0	0	1	0	0	0	--	--		0	A				2	GBM-02-0033-TP	p.G1056S	G	TGAGGTGCTCGGTTATACCAA	NM_144668	NP_653269	122437781	Q8TBY9	WDR66_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	20	3308	+	A	A	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		Missense_Mutation	1056						
WDR7	23335	broad.mit.edu	GRCh37	18	54694330	54694330	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0128-01	TCGA-06-0128-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000254442.3:c.4365G>A	p.Ala1455=	p.A1455=	ENST00000254442	NM_015285.2	1455	gcG/gcA	0		A:0	1	A:0		A	A	uc002lgk.1	protein_coding	YES	CCDS11962.1			4365/4473									ovary(2)|skin(1)	3	c.(4363-4365)GCG>GCA			hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF48,Superfamily_domains:SSF50978	rabconnectin-3 beta isoform 1		A:0		ENSP00000254442	A:0	28/28	4.94E-05		0.000173					0.000242	rs547450912,COSM3403577	28/28	.		ENST00000254442	Transcript		A:0.0002				ENSG00000091157	g.chr18:54694330G>A	13490			LOW								--	--	1																																		WDR7_uc002lgl.1_Silent_p.A1422A	0,1	1			p.A1455A	NM_015285	NP_056100	A:0.001		0,1	WDR7_HUMAN	WDR7	HGNC	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	K7ERP9_HUMAN,K7EPQ4_HUMAN,K7EMB8_HUMAN,K7ELZ4_HUMAN		28	4576	+			UPI000013CE33	1455					SNV	WDR7,synonymous_variant,p.=,ENST00000254442,NM_015285.2;WDR7,synonymous_variant,p.=,ENST00000357574,NM_052834.2;WDR7,synonymous_variant,p.=,ENST00000589935,;WDR7-OT1,upstream_gene_variant,,ENST00000592032,;	uc002lgk.1	c.4365G>A	4576/9074	1	1			c.4365G>A						18	SNP	c.(4363-4365)GCG>GCA	57	57			ovary(2)|skin(1)	3	Broad	rabconnectin-3 beta isoform 1			54694330		0.617	ENSG00000091157	17064	g.chr18:54694330G>A										-11.801567	KEEP	4	1	-1	45	53	4	1	-1	9.396757	45	53	0.050505	1	0	0	0	0	0	0	1	0	--	--		0	A			WDR7_uc002lgl.1_Silent_p.A1422A	14	GBM-06-0128-TP	p.A1455A	G	TGCAGCCCGCGTCCCCCGGCT	NM_015285	NP_056100	54694330	Q9Y4E6	WDR7_HUMAN	0		Lung(128;0.0238)|Colorectal(16;0.0296)	28	4576	+	A	A			Silent	1455						
WDR70	55100	broad.mit.edu	GRCh37	5	37480065	37480065	+	stop_gained	Nonsense_Mutation	SNP	T	T	G			TCGA-02-2470-01	TCGA-02-2470-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265107.4:c.816T>G	p.Tyr272Ter	p.Y272*	ENST00000265107	NM_018034.2	272	taT/taG	0			1			G	Y/*	uc003jkv.2	protein_coding	YES	CCDS34147.1			816/1965									ovary(1)|central_nervous_system(1)	2	c.(814-816)TAT>TAG			Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR16017,hmmpanther:PTHR16017:SF0,PROSITE_profiles:PS50294	WD repeat domain 70				ENSP00000265107		18-Aug									COSM2149116	18-Aug	.		ENST00000265107	Transcript						ENSG00000082068	g.chr5:37480065T>G	25495			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,5,37480065,T,G&fts=all	Y272*	--	--	1																																		WDR70_uc010iva.1_Nonsense_Mutation_p.Y272*	1	1			p.Y272*	NM_018034	NP_060504			1	WDR70_HUMAN	WDR70	HGNC	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)				8	874	+	all_lung(31;0.000285)		UPI0000049FC2	272					SNV	WDR70,stop_gained,p.Tyr272Ter,ENST00000265107,NM_018034.2;WDR70,stop_gained,p.Tyr272Ter,ENST00000504564,;WDR70,non_coding_transcript_exon_variant,,ENST00000510699,;WDR70,non_coding_transcript_exon_variant,,ENST00000511906,;	uc003jkv.2	c.816T>G	972/2983	5	3			c.816T>G						5	SNP	c.(814-816)TAT>TAG	55	55			ovary(1)|central_nervous_system(1)	2	Broad	WD repeat domain 70			37480065		0.328	ENSG00000082068	17065	g.chr5:37480065T>G										112.713073	KEEP	21	20	-1	62	76	21	20	-1	124.605785	62	76	0.221557	1	0	0	0	0	0	1	0	0	--	--		0	G			WDR70_uc010iva.1_Nonsense_Mutation_p.Y272*	5	GBM-02-2470-TP	p.Y272*	T	GAGACCAGTATATTGTGGACA	NM_018034	NP_060504	37480065	Q9NW82	WDR70_HUMAN	0	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		8	874	+	G	G	all_lung(31;0.000285)		Nonsense_Mutation	272						
WDR72	256764	broad.mit.edu	GRCh37	15	53998200	53998200	+	synonymous_variant	Silent	SNP	A	A	T			TCGA-02-0003-01	TCGA-02-0003-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396328.1:c.1026T>A	p.Ser342=	p.S342=	ENST00000396328	NM_182758.3	342	tcT/tcA	0			1			T	S	uc002acj.2	protein_coding		CCDS10151.1			1026/3309									lung(1)|skin(1)	2	c.(1024-1026)TCT>TCA			Gene3D:2.130.10.10,hmmpanther:PTHR12816,hmmpanther:PTHR12816:SF18,Superfamily_domains:SSF50978	WD repeat domain 72				ENSP00000353699		20-Oct									COSM2148930	20-Oct	.		ENST00000360509	Transcript	1					ENSG00000166415	g.chr15:53998200A>T	26790			LOW								--	--	1																																		WDR72_uc010bfi.1_Silent_p.S342S	1				p.S342S	NM_182758	NP_877435			1	WDR72_HUMAN	WDR72	HGNC	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	H0YN02_HUMAN		10	1068	-			UPI00001D777D	342			WD 4.		SNV	WDR72,synonymous_variant,p.=,ENST00000396328,NM_182758.3,NM_001277176.1;WDR72,synonymous_variant,p.=,ENST00000557913,;WDR72,synonymous_variant,p.=,ENST00000360509,;WDR72,synonymous_variant,p.=,ENST00000559418,;WDR72,synonymous_variant,p.=,ENST00000560036,;	uc002acj.2	c.1026T>A	1068/5887	2	2			c.1026T>A						15	SNP	c.(1024-1026)TCT>TCA	17	17			lung(1)|skin(1)	2	Broad	WD repeat domain 72			53998200		0.403	ENSG00000166415	17066	g.chr15:53998200A>T										174.238968	KEEP	25	30	-1	4	4	25	30	-1	182.068015	4	4	0.866667	1	0	0	0	0	0	0	1	0	--	--		0	T			WDR72_uc010bfi.1_Silent_p.S342S	1	GBM-02-0003-TP	p.S342S	A	AGACTTCTCCAGAGAAAAGTA	NM_182758	NP_877435	53998200	Q3MJ13	WDR72_HUMAN	0		all cancers(107;0.0511)	10	1068	-	T	T			Silent	342			WD 4.			
WDR72	256764	broad.mit.edu	GRCh37	15	53994476	53994476	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2558-01	TCGA-06-2558-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396328.1:c.1424C>T	p.Ser475Leu	p.S475L	ENST00000396328	NM_182758.3	475	tCg/tTg	0		A:0.0008	1	A:0		A	S/L	uc002acj.2	protein_coding		CCDS10151.1			1424/3309									lung(1)|skin(1)	2	c.(1423-1425)TCG>TTG			Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50294,hmmpanther:PTHR12816,hmmpanther:PTHR12816:SF18,SMART_domains:SM00320,Superfamily_domains:SSF50978	WD repeat domain 72		A:0		ENSP00000353699	A:0.001	20-Dec	3.29E-05	9.61E-05				3.00E-05		6.06E-05	rs201559909,COSM2152648	20-Dec	.		ENST00000360509	Transcript	1	A:0.0004				ENSG00000166415	g.chr15:53994476G>A	26790			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=WDR72_HUMAN&rb=451&re=495&var=S475L	NA	getma.org/?cm=var&var=hg19,15,53994476,G,A&fts=all	S475L	--	--	1																																		WDR72_uc010bfi.1_Missense_Mutation_p.S475L	0,1			possibly_damaging(0.657)	p.S475L	NM_182758	NP_877435	A:0	tolerated(0.13)	0,1	WDR72_HUMAN	WDR72	HGNC	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	H0YN02_HUMAN		12	1466	-			UPI00001D777D	475			WD 6.		SNV	WDR72,missense_variant,p.Ser475Leu,ENST00000396328,NM_182758.3,NM_001277176.1;WDR72,missense_variant,p.Ser472Leu,ENST00000557913,;WDR72,missense_variant,p.Ser475Leu,ENST00000360509,;WDR72,missense_variant,p.Ser485Leu,ENST00000559418,;WDR72,missense_variant,p.Ser475Leu,ENST00000560036,;	uc002acj.2	c.1424C>T	1466/5887	1	1			c.1424C>T						15	SNP	c.(1423-1425)TCG>TTG	52	52			lung(1)|skin(1)	2	Broad	WD repeat domain 72			53994476		0.383	ENSG00000166415	17066	g.chr15:53994476G>A										340.090651	KEEP	54	64	-1	25	39	54	64	-1	342.483705	25	39	0.62963	1	0	0	0	0	1	0	0	0	--	--		0	A			WDR72_uc010bfi.1_Missense_Mutation_p.S475L	82	GBM-06-2558-TP	p.S475L	G	GTCTAATTTCGAAGAGAGACC	NM_182758	NP_877435	53994476	Q3MJ13	WDR72_HUMAN	0		all cancers(107;0.0511)	12	1466	-	A	A			Missense_Mutation	475			WD 6.			
WDR72	0	broad.mit.edu	GRCh37	15	53889439	53889439	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-0688-01	TCGA-12-0688-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360509.5:c.2985G>A	p.Ala995=	p.A995=	ENST00000360509		995	gcG/gcA	0			1			T	A	uc002acj.2	protein_coding		CCDS10151.1			2985/3309									lung(1)|skin(1)	2	c.(2983-2985)GCG>GCA			hmmpanther:PTHR12816,hmmpanther:PTHR12816:SF18	WD repeat domain 72				ENSP00000353699		18/20	9.06E-05	9.61E-05				7.49E-05		0.000303	rs745403939,COSM1373529	18/20	.		ENST00000360509	Transcript	1					ENSG00000166415	g.chr15:53889439C>T	26790			LOW								--	--	1																																			0,1				p.A995A	NM_182758	NP_877435			0,1	WDR72_HUMAN	WDR72	HGNC	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	H0YN02_HUMAN		18	3027	-			UPI00001D777D	995					SNV	WDR72,synonymous_variant,p.=,ENST00000396328,NM_182758.3,NM_001277176.1;WDR72,synonymous_variant,p.=,ENST00000557913,;WDR72,synonymous_variant,p.=,ENST00000360509,;WDR72,synonymous_variant,p.=,ENST00000559418,;	uc002acj.2	c.2985G>A	3027/5887	1	1			c.2985G>A						15	SNP	c.(2983-2985)GCG>GCA	1	1			lung(1)|skin(1)	2	Broad	WD repeat domain 72			53889439		0.378	ENSG00000166415	17066	g.chr15:53889439C>T										323.968168	KEEP	64	50	-1	100	88	64	50	-1	327.56043	100	88	0.379433	1	0	0	0	0	0	0	1	0	--	--		0	T				121	GBM-12-0688-TP	p.A995A	C	GTTGAACTTCCGCCAAGAGAA	NM_182758	NP_877435	53889439	Q3MJ13	WDR72_HUMAN	0		all cancers(107;0.0511)	18	3027	-	T	T			Silent	995						
WDR72	0	broad.mit.edu	GRCh37	15	53992060	53992060	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-27-1833-01	TCGA-27-1833-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360509.5:c.1652T>A	p.Leu551Gln	p.L551Q	ENST00000360509		551	cTg/cAg	0			1			T	L/Q	uc002acj.2	protein_coding		CCDS10151.1			1652/3309									lung(1)|skin(1)	2	c.(1651-1653)CTG>CAG			Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR12816,hmmpanther:PTHR12816:SF18,SMART_domains:SM00320,Superfamily_domains:SSF50978	WD repeat domain 72				ENSP00000353699		13/20									COSM3401823	13/20	.		ENST00000360509	Transcript	1					ENSG00000166415	g.chr15:53992060A>T	26790			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=WDR72_HUMAN&rb=547&re=585&var=L551Q	NA	getma.org/?cm=var&var=hg19,15,53992060,A,T&fts=all	L551Q	--	--	1																																		WDR72_uc010bfi.1_Missense_Mutation_p.L551Q	1			probably_damaging(0.982)	p.L551Q	NM_182758	NP_877435		deleterious(0)	1	WDR72_HUMAN	WDR72	HGNC	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	H0YN02_HUMAN		13	1694	-			UPI00001D777D	551			WD 7.		SNV	WDR72,missense_variant,p.Leu551Gln,ENST00000396328,NM_182758.3,NM_001277176.1;WDR72,missense_variant,p.Leu548Gln,ENST00000557913,;WDR72,missense_variant,p.Leu551Gln,ENST00000360509,;WDR72,missense_variant,p.Leu561Gln,ENST00000559418,;WDR72,missense_variant,p.Leu551Gln,ENST00000560036,;	uc002acj.2	c.1652T>A	1694/5887	2	2			c.1652T>A						15	SNP	c.(1651-1653)CTG>CAG	45	45			lung(1)|skin(1)	2	Broad	WD repeat domain 72			53992060		0.463	ENSG00000166415	17066	g.chr15:53992060A>T										270.76497	KEEP	48	49	-1	80	82	48	49	-1	274.445189	80	82	0.367089	1	0	0	0	0	1	0	0	0	--	--		0	T			WDR72_uc010bfi.1_Missense_Mutation_p.L551Q	192	GBM-27-1833-TP	p.L551Q	A	CCGGGCATGCAGGAGGCAACT	NM_182758	NP_877435	53992060	Q3MJ13	WDR72_HUMAN	0		all cancers(107;0.0511)	13	1694	-	T	T			Missense_Mutation	551			WD 7.			
WDR72	0	broad.mit.edu	GRCh37	15	53908374	53908374	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2499-01	TCGA-28-2499-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360509.5:c.2029G>A	p.Val677Ile	p.V677I	ENST00000360509		677	Gtt/Att	0			1			T	V/I	uc002acj.2	protein_coding		CCDS10151.1			2029/3309									lung(1)|skin(1)	2	c.(2029-2031)GTT>ATT			hmmpanther:PTHR12816,hmmpanther:PTHR12816:SF18	WD repeat domain 72				ENSP00000353699		15/20	1.65E-05		8.84E-05			1.51E-05			rs747991720,COSM3401822	15/20	.		ENST00000360509	Transcript	1					ENSG00000166415	g.chr15:53908374C>T	26790			MODERATE		-0.55	neutral	getma.org/?cm=msa&ty=f&p=WDR72_HUMAN&rb=586&re=785&var=V677I	NA	getma.org/?cm=var&var=hg19,15,53908374,C,T&fts=all	V677I	--	--	1																																		WDR72_uc010bfi.1_Missense_Mutation_p.V677I	0,1			benign(0.001)	p.V677I	NM_182758	NP_877435		tolerated(0.52)	0,1	WDR72_HUMAN	WDR72	HGNC	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	H0YN02_HUMAN		15	2071	-			UPI00001D777D	677					SNV	WDR72,missense_variant,p.Val677Ile,ENST00000396328,NM_182758.3,NM_001277176.1;WDR72,missense_variant,p.Val674Ile,ENST00000557913,;WDR72,missense_variant,p.Val677Ile,ENST00000360509,;WDR72,missense_variant,p.Val687Ile,ENST00000559418,;WDR72,missense_variant,p.Val677Ile,ENST00000560036,;	uc002acj.2	c.2029G>A	2071/5887	2	2			c.2029G>A						15	SNP	c.(2029-2031)GTT>ATT	36	36			lung(1)|skin(1)	2	Broad	WD repeat domain 72			53908374		0.378	ENSG00000166415	17066	g.chr15:53908374C>T										88.568516	KEEP	19	12	-1	9	29	19	12	-1	88.732368	9	29	0.446154	1	0	0	0	0	1	0	0	0	--	--		0	T			WDR72_uc010bfi.1_Missense_Mutation_p.V677I	208	GBM-28-2499-TP	p.V677I	C	TGAAAGCCAACGTTACTCCAT	NM_182758	NP_877435	53908374	Q3MJ13	WDR72_HUMAN	0		all cancers(107;0.0511)	15	2071	-	T	T			Missense_Mutation	677						
WDR72	0	broad.mit.edu	GRCh37	15	53998128	53998128	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-32-1991-01	TCGA-32-1991-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360509.5:c.1098T>C	p.Pro366=	p.P366=	ENST00000360509		366	ccT/ccC	0			1			G	P	uc002acj.2	protein_coding		CCDS10151.1			1098/3309									lung(1)|skin(1)	2	c.(1096-1098)CCT>CCC			hmmpanther:PTHR12816,hmmpanther:PTHR12816:SF18	WD repeat domain 72				ENSP00000353699		20-Oct									COSM3401824	20-Oct	.		ENST00000360509	Transcript	1					ENSG00000166415	g.chr15:53998128A>G	26790			LOW								--	--	1																																		WDR72_uc010bfi.1_Silent_p.P366P	1				p.P366P	NM_182758	NP_877435			1	WDR72_HUMAN	WDR72	HGNC	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	H0YN02_HUMAN		10	1140	-			UPI00001D777D	366					SNV	WDR72,synonymous_variant,p.=,ENST00000396328,NM_182758.3,NM_001277176.1;WDR72,synonymous_variant,p.=,ENST00000557913,;WDR72,synonymous_variant,p.=,ENST00000360509,;WDR72,synonymous_variant,p.=,ENST00000559418,;WDR72,synonymous_variant,p.=,ENST00000560036,;	uc002acj.2	c.1098T>C	1140/5887	4	4			c.1098T>C						15	SNP	c.(1096-1098)CCT>CCC	17	17			lung(1)|skin(1)	2	Broad	WD repeat domain 72			53998128		0.383	ENSG00000166415	17066	g.chr15:53998128A>G										230.189448	KEEP	35	36	-1	66	62	35	36	-1	232.993307	66	62	0.364162	1	0	0	0	0	0	0	1	0	--	--		0	G			WDR72_uc010bfi.1_Silent_p.P366P	234	GBM-32-1991-TP	p.P366P	A	ACTTACCTCTAGGAGAACCAT	NM_182758	NP_877435	53998128	Q3MJ13	WDR72_HUMAN	0		all cancers(107;0.0511)	10	1140	-	G	G			Silent	366						
WDR73	84942	broad.mit.edu	GRCh37	15	85189474	85189474	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000434634.2:c.458C>T	p.Ala153Val	p.A153V	ENST00000434634	NM_032856.2	153	gCg/gTg	0			1			A	A/V	uc002bkw.2	protein_coding	YES	CCDS45339.1			458/1137										0	c.(457-459)GCG>GTG			hmmpanther:PTHR22850:SF99,hmmpanther:PTHR22850,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	WD repeat domain 73				ENSP00000387982		8-Jun	2.48E-05					1.51E-05		0.000121	rs748057659,COSM3401969	8-Jun	.		ENST00000434634	Transcript	1					ENSG00000177082	g.chr15:85189474G>A	25928			MODERATE		0.255	neutral	getma.org/?cm=msa&ty=f&p=WDR73_HUMAN&rb=1&re=376&var=A153V	getma.org/pdb.php?prot=WDR73_HUMAN&from=1&to=376&var=A153V	getma.org/?cm=var&var=hg19,15,85189474,G,A&fts=all	A153V	--	--	1																																		WDR73_uc002bkv.2_RNA|WDR73_uc002bkx.2_RNA|WDR73_uc010upa.1_Missense_Mutation_p.A153V|uc002bky.1_3'UTR	0,1	1		benign(0.009)	p.A153V	NM_032856	NP_116245		tolerated(0.38)	0,1	WDR73_HUMAN	WDR73	HGNC	Q6P4I2	WDR73_HUMAN					6	474	-			UPI000004A084	153					SNV	WDR73,missense_variant,p.Ala153Val,ENST00000434634,NM_032856.2;WDR73,non_coding_transcript_exon_variant,,ENST00000398528,;WDR73,non_coding_transcript_exon_variant,,ENST00000560835,;SCAND2P,downstream_gene_variant,,ENST00000348993,;WDR73,downstream_gene_variant,,ENST00000561447,;WDR73,missense_variant,p.Ala153Val,ENST00000558521,;WDR73,3_prime_UTR_variant,,ENST00000559178,;WDR73,3_prime_UTR_variant,,ENST00000559224,;WDR73,non_coding_transcript_exon_variant,,ENST00000560966,;WDR73,non_coding_transcript_exon_variant,,ENST00000558608,;WDR73,non_coding_transcript_exon_variant,,ENST00000559015,;WDR73,non_coding_transcript_exon_variant,,ENST00000559994,;WDR73,non_coding_transcript_exon_variant,,ENST00000559126,;WDR73,non_coding_transcript_exon_variant,,ENST00000559452,;WDR73,non_coding_transcript_exon_variant,,ENST00000561329,;WDR73,non_coding_transcript_exon_variant,,ENST00000560088,;WDR73,downstream_gene_variant,,ENST00000560252,;WDR73,downstream_gene_variant,,ENST00000558487,;WDR73,downstream_gene_variant,,ENST00000559877,;WDR73,downstream_gene_variant,,ENST00000560182,;WDR73,downstream_gene_variant,,ENST00000558019,;SCAND2P,downstream_gene_variant,,ENST00000541103,;	uc002bkw.2	c.458C>T	519/1900	2	2			c.458C>T						15	SNP	c.(457-459)GCG>GTG	45	45				0	Broad	WD repeat domain 73			85189474		0.582	ENSG00000177082	17067	g.chr15:85189474G>A										118.240677	KEEP	13	27	-1	7	7	13	27	-1	120.888458	7	7	0.74	1	0	0	0	0	1	0	0	0	--	--		0	A			WDR73_uc002bkv.2_RNA|WDR73_uc002bkx.2_RNA|WDR73_uc010upa.1_Missense_Mutation_p.A153V|uc002bky.1_3'UTR	102	GBM-06-5858-TP	p.A153V	G	TCGGAGCCTCGCCCCATGGAG	NM_032856	NP_116245	85189474	Q6P4I2	WDR73_HUMAN	0			6	474	-	A	A			Missense_Mutation	153						
WDR74	0	broad.mit.edu	GRCh37	11	62602979	62602979	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01	TCGA-16-1045-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278856.4:c.542G>A	p.Arg181Gln	p.R181Q	ENST00000278856		181	cGg/cAg	0			1			T	R/Q	uc001nvm.1	protein_coding		CCDS44630.1			542/1158									ovary(1)	1	c.(541-543)CGG>CAG			Superfamily_domains:SSF50978,Gene3D:2.130.10.10,hmmpanther:PTHR16038:SF4,hmmpanther:PTHR16038	WD repeat domain 74				ENSP00000278856		11-Jun									COSM3397999,COSM3398000	11-Jun	.		ENST00000278856	Transcript				nucleolus		ENSG00000133316	g.chr11:62602979C>T	25529			MODERATE		2.24	medium	getma.org/?cm=msa&ty=f&p=WDR74_HUMAN&rb=1&re=200&var=R181Q	NA	getma.org/?cm=var&var=hg19,11,62602979,C,T&fts=all	R181Q	--	--	1																																		WDR74_uc001nvk.1_Missense_Mutation_p.R124Q|WDR74_uc001nvl.1_Missense_Mutation_p.R181Q|WDR74_uc001nvn.1_Missense_Mutation_p.R233Q|WDR74_uc009yoi.1_Missense_Mutation_p.R181Q|WDR74_uc010rmk.1_3'UTR	1,1			possibly_damaging(0.852)	p.R181Q	NM_018093	NP_060563		deleterious(0)	1,1	WDR74_HUMAN	WDR74	HGNC	Q6RFH5	WDR74_HUMAN			F5GYL6_HUMAN,E9PS41_HUMAN		7	710	-			UPI000013DB9A	181			WD 4.		SNV	WDR74,missense_variant,p.Arg181Gln,ENST00000525239,;WDR74,missense_variant,p.Arg124Gln,ENST00000525752,;WDR74,missense_variant,p.Arg181Gln,ENST00000529106,NM_018093.2;WDR74,missense_variant,p.Arg181Gln,ENST00000278856,;WDR74,missense_variant,p.Arg181Gln,ENST00000311713,;STX5,upstream_gene_variant,,ENST00000294179,NM_001244666.1,NM_003164.4;STX5,upstream_gene_variant,,ENST00000377897,;STX5,upstream_gene_variant,,ENST00000394690,;STX5,upstream_gene_variant,,ENST00000541317,;WDR74,downstream_gene_variant,,ENST00000538098,;WDR74,upstream_gene_variant,,ENST00000536401,;RP11-727F15.9,downstream_gene_variant,,ENST00000535817,;RP11-727F15.9,downstream_gene_variant,,ENST00000535867,;WDR74,non_coding_transcript_exon_variant,,ENST00000540620,;WDR74,3_prime_UTR_variant,,ENST00000542347,;WDR74,non_coding_transcript_exon_variant,,ENST00000541930,;WDR74,non_coding_transcript_exon_variant,,ENST00000545112,;WDR74,non_coding_transcript_exon_variant,,ENST00000538150,;STX5,upstream_gene_variant,,ENST00000491231,;STX5,upstream_gene_variant,,ENST00000492066,;WDR74,upstream_gene_variant,,ENST00000544831,;WDR74,downstream_gene_variant,,ENST00000544953,;WDR74,downstream_gene_variant,,ENST00000453708,;STX5,upstream_gene_variant,,ENST00000488303,;WDR74,downstream_gene_variant,,ENST00000538277,;STX5,upstream_gene_variant,,ENST00000486437,;WDR74,upstream_gene_variant,,ENST00000543688,;	uc001nvm.1	c.542G>A	633/1289	2	2			c.542G>A						11	SNP	c.(541-543)CGG>CAG	22	22			ovary(1)	1	Broad	WD repeat domain 74			62602979		0.607	ENSG00000133316	17068	g.chr11:62602979C>T		nucleolus								0.13291	KEEP	2	5	-1	34	42	2	5	-1	10.982344	34	42	0.081967	1	0	0	0	0	1	0	0	0	--	--		0	T			WDR74_uc001nvk.1_Missense_Mutation_p.R124Q|WDR74_uc001nvl.1_Missense_Mutation_p.R181Q|WDR74_uc001nvn.1_Missense_Mutation_p.R233Q|WDR74_uc009yoi.1_Missense_Mutation_p.R181Q|WDR74_uc010rmk.1_3'UTR	157	GBM-16-1045-TP	p.R181Q	C	GATGGGAACCCGCAAGTCCAG	NM_018093	NP_060563	62602979	Q6RFH5	WDR74_HUMAN	0			7	710	-	T	T			Missense_Mutation	181			WD 4.			
WDR75	84128		GRCh37	2	190313200	190313200	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000314761.4:c.182C>T	p.Thr61Ile	p.T61I	ENST00000314761	NM_032168.1	61	aCt/aTt	0																																																																																																																																																																																																																																												
WDR76	79968		GRCh37	15	44150913	44150913	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000263795.6:c.1454G>A	p.Ser485Asn	p.S485N	ENST00000263795	NM_001167941.1	485	aGt/aAt	0																																																																																																																																																																																																																																												
WDR78	79819	broad.mit.edu	GRCh37	1	67313167	67313167	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01	TCGA-06-2570-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371026.3:c.1291G>A	p.Glu431Lys	p.E431K	ENST00000371026	NM_024763.4	431	Gaa/Aaa	0			1			T	E/K	uc001dcx.2	protein_coding	YES	CCDS635.1			1291/2547									ovary(2)	2	c.(1291-1293)GAA>AAA			Low_complexity_(Seg):seg,hmmpanther:PTHR12442:SF12,hmmpanther:PTHR12442	WD repeat domain 78 isoform 1				ENSP00000360065		17-Aug									COSM3400976,COSM3400977	17-Aug	.		ENST00000371026	Transcript						ENSG00000152763	g.chr1:67313167C>T	26252			MODERATE		2.075	medium	getma.org/?cm=msa&ty=f&p=WDR78_HUMAN&rb=1&re=469&var=E431K	NA	getma.org/?cm=var&var=hg19,1,67313167,C,T&fts=all	E431K	--	--	1																																		WDR78_uc001dcy.2_Missense_Mutation_p.E431K|WDR78_uc009waw.2_Missense_Mutation_p.E177K|WDR78_uc009wax.2_RNA	1,1	1		benign(0.033)	p.E431K	NM_024763	NP_079039		deleterious(0.01)	1,1	WDR78_HUMAN	WDR78	HGNC	Q5VTH9	WDR78_HUMAN					8	1347	-			UPI00004561EF	431			Glu-rich.		SNV	WDR78,missense_variant,p.Glu431Lys,ENST00000371026,NM_024763.4;WDR78,missense_variant,p.Glu177Lys,ENST00000431318,;WDR78,missense_variant,p.Glu197Lys,ENST00000464352,;WDR78,missense_variant,p.Glu431Lys,ENST00000371023,NM_207014.2;WDR78,intron_variant,,ENST00000531552,;WDR78,downstream_gene_variant,,ENST00000469450,;WDR78,splice_region_variant,,ENST00000491297,;	uc001dcx.2	c.1291G>A	1347/3848	2	2			c.1291G>A						1	SNP	c.(1291-1293)GAA>AAA	36	36			ovary(2)	2	Broad	WD repeat domain 78 isoform 1			67313167		0.199	ENSG00000152763	17072	g.chr1:67313167C>T										5.13234	KEEP	5	5	-1	41	38	5	5	-1	18.696383	41	38	0.096386	1	0	0	0	0	1	0	0	0	--	--		0	T			WDR78_uc001dcy.2_Missense_Mutation_p.E431K|WDR78_uc009waw.2_Missense_Mutation_p.E177K|WDR78_uc009wax.2_RNA	91	GBM-06-2570-TP	p.E431K	C	TTTTAAATACCTTTTAAAACA	NM_024763	NP_079039	67313167	Q5VTH9	WDR78_HUMAN	0			8	1347	-	T	T			Missense_Mutation	431			Glu-rich.			
WDR78	79819		GRCh37	1	67301382	67301382	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000371026.3:c.1660G>A	p.Val554Ile	p.V554I	ENST00000371026	NM_024763.4	554	Gtt/Att	0																																																																																																																																																																																																																																												
WDR81	0	broad.mit.edu	GRCh37	17	1634533	1634533	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-27-1837-01	TCGA-27-1837-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409644.1:c.4138C>G	p.Leu1380Val	p.L1380V	ENST00000409644	NM_001163809.1	1380	Ctc/Gtc	0			1			G	L/V	uc002fti.2	protein_coding	YES	CCDS54062.1			4138/5826									skin(1)	1	c.(457-459)CTC>GTC			hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF314	WD repeat domain 81 isoform 4				ENSP00000386609		10-Apr									COSM3402625,COSM3402624,COSM3402626	10-Apr	.		ENST00000409644	Transcript	1					ENSG00000167716	g.chr17:1634533C>G	26600			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=WDR81_HUMAN&rb=177&re=539&var=L329V	NA	getma.org/?cm=var&var=hg19,17,1634533,C,G&fts=all	L329V	--	--	1																																		WDR81_uc002fth.2_Missense_Mutation_p.L329V|WDR81_uc010vqp.1_Missense_Mutation_p.L177V|WDR81_uc002ftj.2_Missense_Mutation_p.L1380V|WDR81_uc010vqq.1_Intron	1,1,1	1		probably_damaging(0.924)	p.L153V	NM_001163811	NP_001157283		tolerated(0.09)	1,1,1	WDR81_HUMAN	WDR81	HGNC	Q562E7	WDR81_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	E9PDG3_HUMAN,C9JD20_HUMAN		4	718	+			UPI0001881A85	153					SNV	WDR81,missense_variant,p.Leu1380Val,ENST00000409644,NM_001163809.1;WDR81,missense_variant,p.Leu329Val,ENST00000309182,NM_152348.3;WDR81,missense_variant,p.Leu153Val,ENST00000419248,NM_001163811.1;WDR81,missense_variant,p.Leu177Val,ENST00000437219,NM_001163673.1;WDR81,missense_variant,p.Leu19Val,ENST00000446363,;WDR81,intron_variant,,ENST00000545662,;WDR81,intron_variant,,ENST00000418841,;WDR81,intron_variant,,ENST00000468539,;WDR81,downstream_gene_variant,,ENST00000575206,;WDR81,downstream_gene_variant,,ENST00000455636,;RP11-961A15.1,intron_variant,,ENST00000576540,;WDR81,non_coding_transcript_exon_variant,,ENST00000464528,;WDR81,non_coding_transcript_exon_variant,,ENST00000495411,;WDR81,intron_variant,,ENST00000474958,;WDR81,downstream_gene_variant,,ENST00000479966,;WDR81,downstream_gene_variant,,ENST00000492901,;	uc002fti.2	c.457C>G	4138/6733	4	4			c.457C>G						17	SNP	c.(457-459)CTC>GTC	21	21			skin(1)	1	Broad	WD repeat domain 81 isoform 4			1634533		0.498	ENSG00000167716	17074	g.chr17:1634533C>G										24.865507	KEEP	4	5	-1	12	8	4	5	-1	25.195939	12	8	0.375	1	0	0	0	0	1	0	0	0	--	--		0	G			WDR81_uc002fth.2_Missense_Mutation_p.L329V|WDR81_uc010vqp.1_Missense_Mutation_p.L177V|WDR81_uc002ftj.2_Missense_Mutation_p.L1380V|WDR81_uc010vqq.1_Intron	196	GBM-27-1837-TP	p.L153V	C	GCTCAGCTTCCTCACCTCCCT	NM_001163811	NP_001157283	1634533	Q562E7	WDR81_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	4	718	+	G	G			Missense_Mutation	153						
WDR82	0	broad.mit.edu	GRCh37	3	52292683	52292683	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5952-01	TCGA-19-5952-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296490.3:c.781G>A	p.Gly261Ser	p.G261S	ENST00000296490	NM_025222.3	261	Ggc/Agc	0			1			T	G/S	uc003ddl.2	protein_coding	YES	CCDS2851.2			781/942										0	c.(781-783)GGC>AGC			Gene3D:2.130.10.10,Pfam_domain:PF00400,Prints_domain:PR00320,PROSITE_patterns:PS00678,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19861,hmmpanther:PTHR19861:SF2,SMART_domains:SM00320,Superfamily_domains:SSF50978	WD repeat domain 82				ENSP00000296490		9-Aug									COSM2156681	9-Aug	.		ENST00000296490	Transcript			histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding	ENSG00000164091	g.chr3:52292683C>T	28826			MODERATE		1.635	low	getma.org/?cm=msa&ty=f&p=WDR82_HUMAN&rb=225&re=287&var=G261S	NA	getma.org/?cm=var&var=hg19,3,52292683,C,T&fts=all	G261S	--	--	1																																		WDR82_uc003ddk.2_Missense_Mutation_p.G186S	1	1		possibly_damaging(0.841)	p.G261S	NM_025222	NP_079498		tolerated(0.08)	1	WDR82_HUMAN	WDR82	HGNC	Q6UXN9	WDR82_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)	C9JBU3_HUMAN,C9J355_HUMAN		8	1063	-			UPI00000EBAC2	261			WD 5.		SNV	WDR82,missense_variant,p.Gly261Ser,ENST00000296490,NM_025222.3;WDR82,downstream_gene_variant,,ENST00000469000,;WDR82,downstream_gene_variant,,ENST00000463624,;WDR82,non_coding_transcript_exon_variant,,ENST00000487402,;	uc003ddl.2	c.781G>A	1063/4293	1	1			c.781G>A						3	SNP	c.(781-783)GGC>AGC	3	3				0	Broad	WD repeat domain 82			52292683		0.438	ENSG00000164091	17075	g.chr3:52292683C>T	histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding							86.777591	KEEP	15	26	-1	34	44	15	26	-1	90.71996	34	44	0.295238	1	0	0	0	0	1	0	0	0	--	--		0	T			WDR82_uc003ddk.2_Missense_Mutation_p.G186S	172	GBM-19-5952-TP	p.G261S	C	TGGATCTTGCCATCCTCTGAA	NM_025222	NP_079498	52292683	Q6UXN9	WDR82_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)	8	1063	-	T	T			Missense_Mutation	261			WD 5.			
WDR82	0	broad.mit.edu	GRCh37	3	52304745	52304745	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-1979-01	TCGA-32-1979-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000296490.3:c.242G>C	p.Ser81Thr	p.S81T	ENST00000296490	NM_025222.3	81	aGc/aCc	0			1			G	S/T	uc003ddl.2	protein_coding	YES	CCDS2851.2			242/942										0	c.(241-243)AGC>ACC			Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR19861,hmmpanther:PTHR19861:SF2,Superfamily_domains:SSF50978	WD repeat domain 82				ENSP00000296490		9-Feb									COSM3408782	9-Feb	.		ENST00000296490	Transcript			histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding	ENSG00000164091	g.chr3:52304745C>G	28826			MODERATE		2.18	medium	getma.org/?cm=msa&ty=f&p=WDR82_HUMAN&rb=50&re=96&var=S81T	NA	getma.org/?cm=var&var=hg19,3,52304745,C,G&fts=all	S81T	--	--	1																																		WDR82_uc003ddk.2_5'Flank|uc011bee.1_5'Flank|MIRLET7G_hsa-let-7g|MI0000433_5'Flank	1	1		benign(0.033)	p.S81T	NM_025222	NP_079498		tolerated(0.17)	1	WDR82_HUMAN	WDR82	HGNC	Q6UXN9	WDR82_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)	C9JBU3_HUMAN,C9J355_HUMAN		2	524	-			UPI00000EBAC2	81					SNV	WDR82,missense_variant,p.Ser81Thr,ENST00000296490,NM_025222.3;WDR82,5_prime_UTR_variant,,ENST00000469000,;WDR82,5_prime_UTR_variant,,ENST00000463624,;MIRLET7G,upstream_gene_variant,,ENST00000362280,;WDR82,upstream_gene_variant,,ENST00000487402,;	uc003ddl.2	c.242G>C	524/4293	4	4			c.242G>C						3	SNP	c.(241-243)AGC>ACC	22	22				0	Broad	WD repeat domain 82			52304745		0.378	ENSG00000164091	17075	g.chr3:52304745C>G	histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding							-41.734862	KEEP	4	3	-1	111	135	4	3	-1	13.090099	111	135	0.027027	1	0	0	0	0	1	0	0	0	--	--		0	G			WDR82_uc003ddk.2_5'Flank|uc011bee.1_5'Flank|MIRLET7G_hsa-let-7g|MI0000433_5'Flank	230	GBM-32-1979-TP	p.S81T	C	TTTGTTAGAGCTGTAAACAAC	NM_025222	NP_079498	52304745	Q6UXN9	WDR82_HUMAN	0		BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)	2	524	-	G	G			Missense_Mutation	81						
WDR86	349136	broad.mit.edu	GRCh37	7	151093239	151093239	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334493.6:c.349C>T	p.Arg117Trp	p.R117W	ENST00000334493	NM_198285.2	117	Cgg/Tgg	0			1			A	R/W	uc003wkb.2	protein_coding	YES	CCDS5925.2			349/1131										0	c.(349-351)CGG>TGG			Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22844,hmmpanther:PTHR22844:SF166,SMART_domains:SM00320,Superfamily_domains:SSF50978	WD repeat domain 86				ENSP00000335522		6-Mar	1.65E-05		0.000174						rs752255098,COSM2151227,COSM2151228	6-Mar	.		ENST00000334493	Transcript						ENSG00000187260	g.chr7:151093239G>A	28020			MODERATE		2.16	medium	getma.org/?cm=msa&ty=f&p=WDR86_HUMAN&rb=87&re=123&var=R117W	NA	getma.org/?cm=var&var=hg19,7,151093239,G,A&fts=all	R117W	--	--	1																																		WDR86_uc003wka.2_Missense_Mutation_p.R75W|WDR86_uc011kvk.1_Missense_Mutation_p.R117W|WDR86_uc003wkc.2_5'UTR	0,1,1	1		probably_damaging(1)	p.R117W	NM_198285	NP_938026		deleterious(0)	0,1,1	WDR86_HUMAN	WDR86	HGNC	Q86TI4	WDR86_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)			3	798	-			UPI000020F353	117			WD 3.		SNV	WDR86,missense_variant,p.Arg117Trp,ENST00000334493,NM_198285.2,NM_001284262.1;WDR86,missense_variant,p.Arg117Trp,ENST00000469830,NM_001284260.1;WDR86,5_prime_UTR_variant,,ENST00000477459,NM_001284261.1;WDR86,upstream_gene_variant,,ENST00000463000,;	uc003wkb.2	c.349C>T	780/2023	2	2			c.349C>T						7	SNP	c.(349-351)CGG>TGG	26	26				0	Broad	WD repeat domain 86			151093239		0.627	ENSG00000187260	17078	g.chr7:151093239G>A										65.990728	KEEP	13	21	-1	66	76	13	21	-1	78.9487	66	76	0.194631	1	0	0	0	0	1	0	0	0	--	--		0	A			WDR86_uc003wka.2_Missense_Mutation_p.R75W|WDR86_uc011kvk.1_Missense_Mutation_p.R117W|WDR86_uc003wkc.2_5'UTR	58	GBM-06-0644-TP	p.R117W	G	CGAGCTGTCCGGTCATAGGAG	NM_198285	NP_938026	151093239	Q86TI4	WDR86_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	798	-	A	A			Missense_Mutation	117			WD 3.			
WDR86	0	broad.mit.edu	GRCh37	7	151097266	151097266	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6573-01	TCGA-74-6573-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334493.6:c.225C>T	p.Ala75=	p.A75=	ENST00000334493	NM_198285.2	75	gcC/gcT	0			1			A	A	uc003wkb.2	protein_coding	YES	CCDS5925.2			225/1131										0	c.(223-225)GCC>GCT			Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22844,hmmpanther:PTHR22844:SF166,SMART_domains:SM00320,Superfamily_domains:SSF50978	WD repeat domain 86				ENSP00000335522		6-Feb									rs781326293,COSM3262164,COSM3262165	6-Feb	.		ENST00000334493	Transcript						ENSG00000187260	g.chr7:151097266G>A	28020			LOW								--	--	1																																		WDR86_uc003wka.2_Silent_p.A33A|WDR86_uc011kvk.1_Silent_p.A75A|WDR86_uc003wkc.2_5'UTR	0,1,1	1			p.A75A	NM_198285	NP_938026			0,1,1	WDR86_HUMAN	WDR86	HGNC	Q86TI4	WDR86_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)			2	674	-			UPI000020F353	75			WD 2.		SNV	WDR86,synonymous_variant,p.=,ENST00000334493,NM_198285.2,NM_001284262.1;WDR86,synonymous_variant,p.=,ENST00000469830,NM_001284260.1;WDR86,5_prime_UTR_variant,,ENST00000477459,NM_001284261.1;WDR86,upstream_gene_variant,,ENST00000463000,;	uc003wkb.2	c.225C>T	656/2023	2	2			c.225C>T						7	SNP	c.(223-225)GCC>GCT	46	46				0	Broad	WD repeat domain 86			151097266		0.607	ENSG00000187260	17078	g.chr7:151097266G>A										27.53787	KEEP	5	7	-1	11	10	5	7	-1	28.276956	11	10	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	A			WDR86_uc003wka.2_Silent_p.A33A|WDR86_uc011kvk.1_Silent_p.A75A|WDR86_uc003wkc.2_5'UTR	260	GBM-74-6573-TP	p.A75A	G	TGGTGCAGTCGGCGCTGCATG	NM_198285	NP_938026	151097266	Q86TI4	WDR86_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	674	-	A	A			Silent	75			WD 2.			
WDR88	126248		GRCh37	19	33666419	33666421	+	inframe_deletion	In_Frame_Del	DEL	TCA	TCA	-			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000355868.3:c.1371_1373del	p.Ser458del	p.S458del	ENST00000355868	NM_173479.3	454	TCA/-	0																																																																																																																																																																																																																																												
WDR90	197335	broad.mit.edu	GRCh37	16	701986	701986	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0157-01	TCGA-06-0157-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000293879.4:c.1000G>A	p.Val334Met	p.V334M	ENST00000293879		334	Gtg/Atg	0	A:0.001		1			A	V/M	uc002cii.1	protein_coding	YES	CCDS42092.1			1000/5247									ovary(1)	1	c.(1000-1002)GTG>ATG				WD repeat domain 90			A:0	ENSP00000293879		Sep-41	0.000125	0.00195				2.54E-05		8.03E-05	rs201213089,COSM3402445	Sep-41	common_variant		ENST00000293879	Transcript						ENSG00000161996	g.chr16:701986G>A	26960			MODERATE		2.455	medium	getma.org/?cm=msa&ty=f&p=WDR90_HUMAN&rb=193&re=392&var=V334M	NA	getma.org/?cm=var&var=hg19,16,701986,G,A&fts=all	V334M	--	--	1																																		WDR90_uc002cig.1_Missense_Mutation_p.V334M|WDR90_uc002cih.1_Missense_Mutation_p.V335M|WDR90_uc002cij.1_RNA	0,1	1		benign(0.034)	p.V334M	NM_145294	NP_660337		tolerated(0.07)	0,1	WDR90_HUMAN	WDR90	HGNC	Q96KV7	WDR90_HUMAN					9	1054	+		Hepatocellular(780;0.0218)	UPI0000D67C48	334					SNV	WDR90,missense_variant,p.Val334Met,ENST00000549091,NM_145294.4;WDR90,missense_variant,p.Val334Met,ENST00000293879,;FAM195A,downstream_gene_variant,,ENST00000307650,NM_138418.2;LA16c-349E10.1,downstream_gene_variant,,ENST00000573609,;AL022341.3,upstream_gene_variant,,ENST00000455294,;WDR90,upstream_gene_variant,,ENST00000552648,;WDR90,non_coding_transcript_exon_variant,,ENST00000552943,;WDR90,non_coding_transcript_exon_variant,,ENST00000549648,;WDR90,non_coding_transcript_exon_variant,,ENST00000420061,;WDR90,upstream_gene_variant,,ENST00000547407,;WDR90,upstream_gene_variant,,ENST00000546516,;WDR90,upstream_gene_variant,,ENST00000552728,;FAM195A,downstream_gene_variant,,ENST00000575894,;FAM195A,downstream_gene_variant,,ENST00000491999,;FAM195A,downstream_gene_variant,,ENST00000474840,;WDR90,upstream_gene_variant,,ENST00000550593,;WDR90,upstream_gene_variant,,ENST00000548859,;	uc002cii.1	c.1000G>A	1000/5488	2	2			c.1000G>A						16	SNP	c.(1000-1002)GTG>ATG	48	48			ovary(1)	1	Broad	WD repeat domain 90			701986		0.687	ENSG00000161996	17081	g.chr16:701986G>A										6.617919	KEEP	3	1	-1	10	6	3	1	-1	7.481825	10	6	0.230769	1	0	0	0	0	1	0	0	0	--	--		0	A			WDR90_uc002cig.1_Missense_Mutation_p.V334M|WDR90_uc002cih.1_Missense_Mutation_p.V335M|WDR90_uc002cij.1_RNA	28	GBM-06-0157-TP	p.V334M	G	CGGCACCCACGTGTTGACTCA	NM_145294	NP_660337	701986	Q96KV7	WDR90_HUMAN	0			9	1054	+	A	A		Hepatocellular(780;0.0218)	Missense_Mutation	334						
WDR90	197335	broad.mit.edu	GRCh37	16	703568	703568	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01	TCGA-06-0158-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000293879.4:c.1277C>T	p.Ser426Leu	p.S426L	ENST00000293879		426	tCg/tTg	0			1			T	S/L	uc002cii.1	protein_coding	YES	CCDS42092.1			1277/5247									ovary(1)	1	c.(1276-1278)TCG>TTG			Gene3D:2.130.10.10,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF10,Low_complexity_(Seg):seg,SMART_domains:SM00320,Superfamily_domains:SSF50978	WD repeat domain 90				ENSP00000293879		Dec-41	8.27E-06					1.52E-05			rs770923026,COSM2150135	Dec-41	.		ENST00000293879	Transcript						ENSG00000161996	g.chr16:703568C>T	26960			MODERATE		3.78	high	getma.org/?cm=msa&ty=f&p=WDR90_HUMAN&rb=393&re=592&var=S426L	getma.org/pdb.php?prot=WDR90_HUMAN&from=393&to=592&var=S426L	getma.org/?cm=var&var=hg19,16,703568,C,T&fts=all	S426L	--	--	1																																		WDR90_uc002cig.1_Missense_Mutation_p.S426L|WDR90_uc002cih.1_Missense_Mutation_p.S427L|WDR90_uc002cij.1_RNA|WDR90_uc002cik.1_5'Flank	0,1	1		probably_damaging(0.978)	p.S426L	NM_145294	NP_660337		deleterious(0)	0,1	WDR90_HUMAN	WDR90	HGNC	Q96KV7	WDR90_HUMAN					12	1331	+		Hepatocellular(780;0.0218)	UPI0000D67C48	426			WD 1.		SNV	WDR90,missense_variant,p.Ser426Leu,ENST00000549091,NM_145294.4;WDR90,missense_variant,p.Ser426Leu,ENST00000293879,;LA16c-349E10.1,downstream_gene_variant,,ENST00000573609,;AL022341.3,upstream_gene_variant,,ENST00000455294,;WDR90,upstream_gene_variant,,ENST00000552648,;WDR90,upstream_gene_variant,,ENST00000548844,;WDR90,non_coding_transcript_exon_variant,,ENST00000552943,;WDR90,non_coding_transcript_exon_variant,,ENST00000549648,;WDR90,non_coding_transcript_exon_variant,,ENST00000420061,;WDR90,upstream_gene_variant,,ENST00000547407,;WDR90,upstream_gene_variant,,ENST00000546516,;WDR90,upstream_gene_variant,,ENST00000552728,;WDR90,upstream_gene_variant,,ENST00000552683,;WDR90,downstream_gene_variant,,ENST00000550593,;WDR90,upstream_gene_variant,,ENST00000548859,;	uc002cii.1	c.1277C>T	1277/5488	2	2			c.1277C>T						16	SNP	c.(1276-1278)TCG>TTG	35	35			ovary(1)	1	Broad	WD repeat domain 90			703568		0.657	ENSG00000161996	17081	g.chr16:703568C>T										187.132111	KEEP	41	30	-1	53	80	41	30	-1	189.873118	53	80	0.367232	1	0	0	0	0	1	0	0	0	--	--		0	T			WDR90_uc002cig.1_Missense_Mutation_p.S426L|WDR90_uc002cih.1_Missense_Mutation_p.S427L|WDR90_uc002cij.1_RNA|WDR90_uc002cik.1_5'Flank	29	GBM-06-0158-TP	p.S426L	C	CTATTGGCCTCGGCCCAGGCA	NM_145294	NP_660337	703568	Q96KV7	WDR90_HUMAN	0			12	1331	+	T	T		Hepatocellular(780;0.0218)	Missense_Mutation	426			WD 1.			
WDR90	197335	broad.mit.edu	GRCh37	16	715745	715745	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01	TCGA-06-2559-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000293879.4:c.4378C>T	p.Arg1460Trp	p.R1460W	ENST00000293879		1460	Cgg/Tgg	0	T:0	T:0	1	T:0		T	R/W	uc002cii.1	protein_coding	YES	CCDS42092.1			4378/5247									ovary(1)	1	c.(4378-4380)CGG>TGG			Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF10,SMART_domains:SM00320,Superfamily_domains:SSF50998	WD repeat domain 90		T:0	T:0.0002	ENSP00000293879	T:0.001	35/41	0.000457	0.000106	0.00271			0.000358			rs199662983,COSM3402457,COSM3402458	35/41	common_variant		ENST00000293879	Transcript		T:0.0002				ENSG00000161996	g.chr16:715745C>T	26960			MODERATE		3.03	medium	getma.org/?cm=msa&ty=f&p=WDR90_HUMAN&rb=1425&re=1463&var=R1460W	getma.org/pdb.php?prot=WDR90_HUMAN&from=1425&to=1463&var=R1460W	getma.org/?cm=var&var=hg19,16,715745,C,T&fts=all	R1460W	--	--	1																																		WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_RNA|WDR90_uc002cin.1_Missense_Mutation_p.R75W|WDR90_uc010uul.1_Missense_Mutation_p.R59W|WDR90_uc002cio.1_Missense_Mutation_p.R59W|WDR90_uc010bqx.1_Missense_Mutation_p.R59W|RHOT2_uc010uum.1_5'Flank|RHOT2_uc002cip.2_5'Flank|RHOT2_uc002ciq.2_5'Flank	0,1,1	1		probably_damaging(1)	p.R1460W	NM_145294	NP_660337	T:0	deleterious(0)	0,1,1	WDR90_HUMAN	WDR90	HGNC	Q96KV7	WDR90_HUMAN					35	4432	+		Hepatocellular(780;0.0218)	UPI0000D67C48	1460			WD 17.		SNV	WDR90,missense_variant,p.Arg1462Trp,ENST00000549091,NM_145294.4;WDR90,missense_variant,p.Arg1460Trp,ENST00000293879,;WDR90,missense_variant,p.Arg59Trp,ENST00000547944,;WDR90,missense_variant,p.Arg59Trp,ENST00000315764,;RHOT2,upstream_gene_variant,,ENST00000315082,NM_138769.2;RHOT2,upstream_gene_variant,,ENST00000563134,;RHOT2,upstream_gene_variant,,ENST00000561929,;WDR90,upstream_gene_variant,,ENST00000551100,;WDR90,upstream_gene_variant,,ENST00000546896,;WDR90,non_coding_transcript_exon_variant,,ENST00000547543,;RHOT2,upstream_gene_variant,,ENST00000569943,;WDR90,downstream_gene_variant,,ENST00000548603,;WDR90,downstream_gene_variant,,ENST00000548844,;WDR90,3_prime_UTR_variant,,ENST00000552728,;WDR90,non_coding_transcript_exon_variant,,ENST00000547407,;WDR90,non_coding_transcript_exon_variant,,ENST00000549024,;WDR90,non_coding_transcript_exon_variant,,ENST00000553080,;WDR90,downstream_gene_variant,,ENST00000552943,;RHOT2,upstream_gene_variant,,ENST00000602564,;WDR90,downstream_gene_variant,,ENST00000546516,;RHOT2,upstream_gene_variant,,ENST00000568636,;RHOT2,upstream_gene_variant,,ENST00000569675,;WDR90,downstream_gene_variant,,ENST00000552683,;RHOT2,upstream_gene_variant,,ENST00000568950,;RHOT2,upstream_gene_variant,,ENST00000569358,;RHOT2,upstream_gene_variant,,ENST00000567017,;RHOT2,upstream_gene_variant,,ENST00000562333,;RHOT2,upstream_gene_variant,,ENST00000561983,;RHOT2,upstream_gene_variant,,ENST00000563637,;RHOT2,upstream_gene_variant,,ENST00000563776,;RHOT2,upstream_gene_variant,,ENST00000566965,;WDR90,downstream_gene_variant,,ENST00000546923,;RHOT2,upstream_gene_variant,,ENST00000570280,;RHOT2,upstream_gene_variant,,ENST00000566214,;RHOT2,upstream_gene_variant,,ENST00000570092,;RHOT2,upstream_gene_variant,,ENST00000562708,;RHOT2,upstream_gene_variant,,ENST00000562598,;RHOT2,upstream_gene_variant,,ENST00000569706,;RHOT2,upstream_gene_variant,,ENST00000567589,;WDR90,upstream_gene_variant,,ENST00000548448,;WDR90,downstream_gene_variant,,ENST00000550902,;	uc002cii.1	c.4378C>T	4378/5488	2	2			c.4378C>T						16	SNP	c.(4378-4380)CGG>TGG	24	24			ovary(1)	1	Broad	WD repeat domain 90			715745		0.672	ENSG00000161996	17081	g.chr16:715745C>T										-5.912698	KEEP	1	2	-1	34	23	1	2	-1	6.407713	34	23	0.051724	1	0	0	0	0	1	0	0	0	--	--		0	T			WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_RNA|WDR90_uc002cin.1_Missense_Mutation_p.R75W|WDR90_uc010uul.1_Missense_Mutation_p.R59W|WDR90_uc002cio.1_Missense_Mutation_p.R59W|WDR90_uc010bqx.1_Missense_Mutation_p.R59W|RHOT2_uc010uum.1_5'Flank|RHOT2_uc002cip.2_5'Flank|RHOT2_uc002ciq.2_5'Flank	83	GBM-06-2559-TP	p.R1460W	C	TGGGAGTGTGCGGGTGTGGGC	NM_145294	NP_660337	715745	Q96KV7	WDR90_HUMAN	0			35	4432	+	T	T		Hepatocellular(780;0.0218)	Missense_Mutation	1460			WD 17.			
WDR90	197335	broad.mit.edu	GRCh37	16	703407	703407	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01	TCGA-06-5408-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000293879.4:c.1189G>A	p.Val397Met	p.V397M	ENST00000293879		397	Gtg/Atg	0			1			A	V/M	uc002cii.1	protein_coding	YES	CCDS42092.1			1189/5247									ovary(1)	1	c.(1189-1191)GTG>ATG			Gene3D:2.130.10.10,Superfamily_domains:SSF50978	WD repeat domain 90				ENSP00000293879		Nov-41	1.65E-05							0.000124	rs760505497,COSM3402447	Nov-41	.		ENST00000293879	Transcript						ENSG00000161996	g.chr16:703407G>A	26960			MODERATE		2.66	medium	getma.org/?cm=msa&ty=f&p=WDR90_HUMAN&rb=393&re=592&var=V397M	getma.org/pdb.php?prot=WDR90_HUMAN&from=393&to=592&var=V397M	getma.org/?cm=var&var=hg19,16,703407,G,A&fts=all	V397M	--	--	1																																		WDR90_uc002cig.1_Missense_Mutation_p.V397M|WDR90_uc002cih.1_Missense_Mutation_p.V398M|WDR90_uc002cij.1_RNA|WDR90_uc002cik.1_5'Flank	0,1	1		possibly_damaging(0.721)	p.V397M	NM_145294	NP_660337		deleterious(0)	0,1	WDR90_HUMAN	WDR90	HGNC	Q96KV7	WDR90_HUMAN					11	1243	+		Hepatocellular(780;0.0218)	UPI0000D67C48	397					SNV	WDR90,missense_variant,p.Val397Met,ENST00000549091,NM_145294.4;WDR90,missense_variant,p.Val397Met,ENST00000293879,;FAM195A,downstream_gene_variant,,ENST00000307650,NM_138418.2;LA16c-349E10.1,downstream_gene_variant,,ENST00000573609,;AL022341.3,upstream_gene_variant,,ENST00000455294,;WDR90,upstream_gene_variant,,ENST00000552648,;WDR90,non_coding_transcript_exon_variant,,ENST00000552943,;WDR90,non_coding_transcript_exon_variant,,ENST00000549648,;WDR90,non_coding_transcript_exon_variant,,ENST00000420061,;WDR90,non_coding_transcript_exon_variant,,ENST00000550593,;WDR90,upstream_gene_variant,,ENST00000547407,;WDR90,upstream_gene_variant,,ENST00000546516,;WDR90,upstream_gene_variant,,ENST00000552728,;WDR90,upstream_gene_variant,,ENST00000552683,;FAM195A,downstream_gene_variant,,ENST00000575894,;FAM195A,downstream_gene_variant,,ENST00000491999,;FAM195A,downstream_gene_variant,,ENST00000474840,;WDR90,upstream_gene_variant,,ENST00000548859,;	uc002cii.1	c.1189G>A	1189/5488	2	2			c.1189G>A						16	SNP	c.(1189-1191)GTG>ATG	42	42			ovary(1)	1	Broad	WD repeat domain 90			703407		0.701	ENSG00000161996	17081	g.chr16:703407G>A										71.192074	KEEP	10	14	-1	19	13	10	14	-1	71.385911	19	13	0.436364	1	0	0	0	0	1	0	0	0	--	--		0	A			WDR90_uc002cig.1_Missense_Mutation_p.V397M|WDR90_uc002cih.1_Missense_Mutation_p.V398M|WDR90_uc002cij.1_RNA|WDR90_uc002cik.1_5'Flank	92	GBM-06-5408-TP	p.V397M	G	CGTCCTGCTCGTGGACACGGG	NM_145294	NP_660337	703407	Q96KV7	WDR90_HUMAN	0			11	1243	+	A	A		Hepatocellular(780;0.0218)	Missense_Mutation	397						
WDR90	0	broad.mit.edu	GRCh37	16	703624	703624	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-6701-01	TCGA-06-6701-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000293879.4:c.1333T>G	p.Cys445Gly	p.C445G	ENST00000293879		445	Tgc/Ggc	0			1			G	C/G	uc002cii.1	protein_coding	YES	CCDS42092.1			1333/5247									ovary(1)	1	c.(1333-1335)TGC>GGC			Gene3D:2.130.10.10,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF10,SMART_domains:SM00320,Superfamily_domains:SSF50978	WD repeat domain 90				ENSP00000293879		Dec-41									COSM3748004	Dec-41	.		ENST00000293879	Transcript						ENSG00000161996	g.chr16:703624T>G	26960			MODERATE		3.53	high	getma.org/?cm=msa&ty=f&p=WDR90_HUMAN&rb=393&re=592&var=C445G	getma.org/pdb.php?prot=WDR90_HUMAN&from=393&to=592&var=C445G	getma.org/?cm=var&var=hg19,16,703624,T,G&fts=all	C445G	--	--	1																																		WDR90_uc002cig.1_Missense_Mutation_p.C445G|WDR90_uc002cih.1_Missense_Mutation_p.C446G|WDR90_uc002cij.1_RNA|WDR90_uc002cik.1_5'Flank	1	1		probably_damaging(0.991)	p.C445G	NM_145294	NP_660337		deleterious(0.02)	1	WDR90_HUMAN	WDR90	HGNC	Q96KV7	WDR90_HUMAN					12	1387	+		Hepatocellular(780;0.0218)	UPI0000D67C48	445			WD 1.		SNV	WDR90,missense_variant,p.Cys445Gly,ENST00000549091,NM_145294.4;WDR90,missense_variant,p.Cys445Gly,ENST00000293879,;LA16c-349E10.1,downstream_gene_variant,,ENST00000573609,;AL022341.3,upstream_gene_variant,,ENST00000455294,;WDR90,upstream_gene_variant,,ENST00000552648,;WDR90,upstream_gene_variant,,ENST00000548844,;WDR90,non_coding_transcript_exon_variant,,ENST00000552943,;WDR90,non_coding_transcript_exon_variant,,ENST00000549648,;WDR90,non_coding_transcript_exon_variant,,ENST00000420061,;WDR90,upstream_gene_variant,,ENST00000547407,;WDR90,upstream_gene_variant,,ENST00000546516,;WDR90,upstream_gene_variant,,ENST00000552728,;WDR90,upstream_gene_variant,,ENST00000552683,;WDR90,downstream_gene_variant,,ENST00000550593,;WDR90,upstream_gene_variant,,ENST00000548859,;	uc002cii.1	c.1333T>G	1333/5488	3	3			c.1333T>G						16	SNP	c.(1333-1335)TGC>GGC	7	7			ovary(1)	1	Broad	WD repeat domain 90			703624		0.657	ENSG00000161996	17081	g.chr16:703624T>G										2.940169	KEEP	2	3	-1	21	33	2	3	-1	12.730649	21	33	0.087719	1	0	0	0	0	1	0	0	0	--	--		0	G			WDR90_uc002cig.1_Missense_Mutation_p.C445G|WDR90_uc002cih.1_Missense_Mutation_p.C446G|WDR90_uc002cij.1_RNA|WDR90_uc002cik.1_5'Flank	115	GBM-06-6701-TP	p.C445G	T	GACCGGGCGGTGCTTGTGCCT	NM_145294	NP_660337	703624	Q96KV7	WDR90_HUMAN	0			12	1387	+	G	G		Hepatocellular(780;0.0218)	Missense_Mutation	445			WD 1.			
WDR90	197335		GRCh37	16	711897	711897	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000293879.4:c.3871C>T	p.Arg1291Ter	p.R1291*	ENST00000293879		1291	Cga/Tga	0																																																																																																																																																																																																																																												
WDR91	29062	broad.mit.edu	GRCh37	7	134878049	134878049	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-0214-01	TCGA-06-0214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354475.4:c.1593C>A	p.Gly531=	p.G531=	ENST00000354475	NM_014149.3	531	ggC/ggA	0			1			T	G	uc003vsp.2	protein_coding	YES	CCDS34758.1			1593/2244									breast(2)|ovary(1)|skin(1)	4	c.(1591-1593)GGC>GGA			hmmpanther:PTHR13083,Gene3D:2.130.10.10,Superfamily_domains:SSF50978	WD repeat domain 91				ENSP00000346466		15-Nov									COSM3411614	15-Nov	.		ENST00000354475	Transcript						ENSG00000105875	g.chr7:134878049G>T	24997			LOW								--	--	1																																		WDR91_uc010lmq.2_Silent_p.G120G|WDR91_uc010lmr.2_RNA	1	1			p.G531G	NM_014149	NP_054868			1	WDR91_HUMAN	WDR91	HGNC	A4D1P6	WDR91_HUMAN					11	1655	-			UPI000006F2DE	531			WD 3.		SNV	WDR91,synonymous_variant,p.=,ENST00000354475,NM_014149.3;WDR91,synonymous_variant,p.=,ENST00000344400,;WDR91,synonymous_variant,p.=,ENST00000423565,;WDR91,downstream_gene_variant,,ENST00000485942,;WDR91,downstream_gene_variant,,ENST00000476775,;WDR91,non_coding_transcript_exon_variant,,ENST00000466182,;WDR91,non_coding_transcript_exon_variant,,ENST00000479698,;WDR91,non_coding_transcript_exon_variant,,ENST00000462707,;WDR91,non_coding_transcript_exon_variant,,ENST00000497853,;WDR91,non_coding_transcript_exon_variant,,ENST00000474411,;	uc003vsp.2	c.1593C>A	1625/4588	1	1			c.1593C>A						7	SNP	c.(1591-1593)GGC>GGA	12	12			breast(2)|ovary(1)|skin(1)	4	Broad	WD repeat domain 91			134878049		0.622	ENSG00000105875	17082	g.chr7:134878049G>T										48.845925	KEEP	17	17	0.5	59	82	17	17	0.5	59.720469	59	82	0.190083	1	0	0	0	0	0	0	1	0	--	--		0	T			WDR91_uc010lmq.2_Silent_p.G120G|WDR91_uc010lmr.2_RNA	50	GBM-06-0214-TP	p.G531G	G	TGCCCTTGCTGCCGATGTCTG	NM_014149	NP_054868	134878049	A4D1P6	WDR91_HUMAN	0			11	1655	-	T	T			Silent	531			WD 3.			
WDR91	0	broad.mit.edu	GRCh37	7	134874110	134874110	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-19-5951-01	TCGA-19-5951-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354475.4:c.1754T>C	p.Val585Ala	p.V585A	ENST00000354475	NM_014149.3	585	gTc/gCc	0			1			G	V/A	uc003vsp.2	protein_coding	YES	CCDS34758.1			1754/2244									breast(2)|ovary(1)|skin(1)	4	c.(1753-1755)GTC>GCC			PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR13083,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978	WD repeat domain 91				ENSP00000346466		15-Dec									COSM3411613	15-Dec	.		ENST00000354475	Transcript						ENSG00000105875	g.chr7:134874110A>G	24997			MODERATE		0.855	low	getma.org/?cm=msa&ty=f&p=WDR91_HUMAN&rb=554&re=590&var=V585A	NA	getma.org/?cm=var&var=hg19,7,134874110,A,G&fts=all	V585A	--	--	1																																		WDR91_uc010lmq.2_Missense_Mutation_p.V174A|WDR91_uc010lmr.2_RNA	1	1		benign(0.008)	p.V585A	NM_014149	NP_054868		tolerated(0.41)	1	WDR91_HUMAN	WDR91	HGNC	A4D1P6	WDR91_HUMAN					12	1816	-			UPI000006F2DE	585			WD 4.		SNV	WDR91,missense_variant,p.Val585Ala,ENST00000354475,NM_014149.3;WDR91,missense_variant,p.Val585Ala,ENST00000344400,;WDR91,missense_variant,p.Val550Ala,ENST00000423565,;WDR91,non_coding_transcript_exon_variant,,ENST00000466182,;WDR91,non_coding_transcript_exon_variant,,ENST00000462707,;WDR91,non_coding_transcript_exon_variant,,ENST00000497853,;WDR91,downstream_gene_variant,,ENST00000479698,;WDR91,downstream_gene_variant,,ENST00000474411,;	uc003vsp.2	c.1754T>C	1786/4588	4	4			c.1754T>C						7	SNP	c.(1753-1755)GTC>GCC	22	22			breast(2)|ovary(1)|skin(1)	4	Broad	WD repeat domain 91			134874110		0.488	ENSG00000105875	17082	g.chr7:134874110A>G										-4.420864	KEEP	0	5	-1	28	33	0	5	-1	7.352839	28	33	0.053571	1	0	0	0	0	1	0	0	0	--	--		0	G			WDR91_uc010lmq.2_Missense_Mutation_p.V174A|WDR91_uc010lmr.2_RNA	171	GBM-19-5951-TP	p.V585A	A	CAGCCGGATGACGCCATCAGC	NM_014149	NP_054868	134874110	A4D1P6	WDR91_HUMAN	0			12	1816	-	G	G			Missense_Mutation	585			WD 4.			
WDR92	0	broad.mit.edu	GRCh37	2	68358402	68358402	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-41-3392-01	TCGA-41-3392-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295121.6:c.1042G>C	p.Val348Leu	p.V348L	ENST00000295121	NM_138458.3	348	Gta/Cta	0			1			G	V/L	uc002see.1	protein_coding	YES	CCDS1884.1			1042/1074										0	c.(1042-1044)GTA>CTA			hmmpanther:PTHR10971:SF2,hmmpanther:PTHR10971,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978	monad				ENSP00000295121		8-Aug									COSM3407935	8-Aug	.		ENST00000295121	Transcript			apoptosis|histone lysine methylation		methylated histone residue binding	ENSG00000243667	g.chr2:68358402C>G	25176			MODERATE		3.12	medium	getma.org/?cm=msa&ty=f&p=WDR92_HUMAN&rb=312&re=348&var=V348L	getma.org/pdb.php?prot=WDR92_HUMAN&from=312&to=348&var=V348L	getma.org/?cm=var&var=hg19,2,68358402,C,G&fts=all	V348L	--	--	1																																		WDR92_uc002sed.1_Intron	1	1		benign(0.04)	p.V348L	NM_138458	NP_612467		tolerated(0.09)	1	WDR92_HUMAN	WDR92	HGNC	Q96MX6	WDR92_HUMAN			Q8ND98_HUMAN,Q86YQ0_HUMAN		8	1123	-			UPI000006F50D	348			WD 6.		SNV	WDR92,missense_variant,p.Val348Leu,ENST00000295121,NM_138458.3;WDR92,downstream_gene_variant,,ENST00000409164,NM_001256476.1;WDR92,downstream_gene_variant,,ENST00000406245,;WDR92,downstream_gene_variant,,ENST00000457114,;WDR92,splice_region_variant,,ENST00000492039,;RP11-474G23.1,3_prime_UTR_variant,,ENST00000406334,;	uc002see.1	c.1042G>C	1159/2626	3	3			c.1042G>C						2	SNP	c.(1042-1044)GTA>CTA	56	56				0	Broad	monad			68358402		0.323	ENSG00000243667	17083	g.chr2:68358402C>G	apoptosis|histone lysine methylation		methylated histone residue binding							20.220505	KEEP	9	14	-1	103	128	9	14	-1	57.601295	103	128	0.090498	1	0	0	0	0	1	0	0	0	--	--		0	G			WDR92_uc002sed.1_Intron	254	GBM-41-3392-TP	p.V348L	C	ACGATCAGTACTCTCACCGTT	NM_138458	NP_612467	68358402	Q96MX6	WDR92_HUMAN	0			8	1123	-	G	G			Missense_Mutation	348			WD 6.			
WDR96	0	broad.mit.edu	GRCh37	10	105928529	105928529	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6388-01	TCGA-06-6388-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357060.3:c.2664G>A	p.Ser888=	p.S888=	ENST00000357060	NM_025145.5	888	tcG/tcA	0			1			T	S	uc001kxw.2	protein_coding	YES	CCDS31281.1			2664/4998										0	c.(2662-2664)TCG>TCA			hmmpanther:PTHR14885	hypothetical protein LOC80217				ENSP00000349568		21/38	1.65E-05		8.64E-05			1.50E-05			rs776722704,COSM3396907	21/38	.		ENST00000357060	Transcript						ENSG00000197748	g.chr10:105928529C>T	26684			LOW								--	--	1																																		C10orf79_uc009xxq.2_Silent_p.S196S|C10orf79_uc001kxx.3_Silent_p.S889S	0,1	1			p.S888S	NM_025145	NP_079421			0,1	WDR96_HUMAN	WDR96	HGNC	Q8NDM7	WDR96_HUMAN		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)			21	2780	-		Colorectal(252;0.178)	UPI0000D60FC7	888					SNV	WDR96,synonymous_variant,p.=,ENST00000357060,NM_025145.5;WDR96,synonymous_variant,p.=,ENST00000428666,;WDR96,synonymous_variant,p.=,ENST00000434629,;WDR96,synonymous_variant,p.=,ENST00000278064,;	uc001kxw.2	c.2664G>A	2780/5365	2	2			c.2664G>A						10	SNP	c.(2662-2664)TCG>TCA	46	46				0	Broad	hypothetical protein LOC80217			105928529		0.373	ENSG00000197748	1583	g.chr10:105928529C>T										135.879134	KEEP	21	27	-1	15	5	21	27	-1	138.513075	15	5	0.724138	1	0	0	0	0	0	0	1	0	--	--		0	T			C10orf79_uc009xxq.2_Silent_p.S196S|C10orf79_uc001kxx.3_Silent_p.S889S	104	GBM-06-6388-TP	p.S888S	C	TCACAGCCATCGAATTCCAAC	NM_025145	NP_079421	105928529	Q8NDM7	WDR96_HUMAN	0		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)	21	2780	-	T	T		Colorectal(252;0.178)	Silent	888						
WDR96			GRCh37	10	105906078	105906078	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000357060.3:c.3798T>C	p.Ser1266=	p.S1266=	ENST00000357060	NM_025145.5	1266	tcT/tcC	0																																																																																																																																																																																																																																												
WDYHV1	0	broad.mit.edu	GRCh37	8	124442261	124442261	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-32-1991-01	TCGA-32-1991-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000287387.2:c.222A>G	p.Gly74=	p.G74=	ENST00000287387	NM_018024.1	74	ggA/ggG	0			1			G	G	uc003yqn.1	protein_coding	YES	CCDS6344.1			222/618									ovary(1)|skin(1)	2	c.(220-222)GGA>GGG			hmmpanther:PTHR13035,hmmpanther:PTHR13035:SF0,Gene3D:3c9qA00,Pfam_domain:PF09764	WDYHV motif containing 1				ENSP00000287387		6-Mar									COSM3412737	6-Mar	.		ENST00000287387	Transcript			protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity	ENSG00000156795	g.chr8:124442261A>G	25490			LOW								--	--	1																																		WDYHV1_uc011lij.1_Silent_p.G14G|WDYHV1_uc003yqo.1_RNA	1	1			p.G74G	NM_018024	NP_060494			1	NTAQ1_HUMAN	WDYHV1	HGNC	Q96HA8	NTAQ1_HUMAN			E5RIY9_HUMAN,B4DE68_HUMAN		3	347	+			UPI0000073310	74					SNV	WDYHV1,synonymous_variant,p.=,ENST00000523984,NM_001283024.1;WDYHV1,synonymous_variant,p.=,ENST00000287387,NM_018024.1;WDYHV1,synonymous_variant,p.=,ENST00000523356,;WDYHV1,synonymous_variant,p.=,ENST00000522194,;WDYHV1,5_prime_UTR_variant,,ENST00000518125,;WDYHV1,non_coding_transcript_exon_variant,,ENST00000517609,;WDYHV1,non_coding_transcript_exon_variant,,ENST00000523551,;WDYHV1,non_coding_transcript_exon_variant,,ENST00000524254,;WDYHV1,3_prime_UTR_variant,,ENST00000519199,;	uc003yqn.1	c.222A>G	347/1349	3	3			c.222A>G						8	SNP	c.(220-222)GGA>GGG	55	55			ovary(1)|skin(1)	2	Broad	WDYHV motif containing 1			124442261		0.378	ENSG00000156795	17087	g.chr8:124442261A>G	protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity							-18.104248	KEEP	1	3	-1	63	67	1	3	-1	8.765205	63	67	0.035088	1	0	0	0	0	0	0	1	0	--	--		0	G			WDYHV1_uc011lij.1_Silent_p.G14G|WDYHV1_uc003yqo.1_RNA	234	GBM-32-1991-TP	p.G74G	A	CTGGAGATGGACCTGTGATCT	NM_018024	NP_060494	124442261	Q96HA8	NTAQ1_HUMAN	0			3	347	+	G	G			Silent	74						
WDYHV1	0	broad.mit.edu	GRCh37	8	124440173	124440173	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-32-2634-01	TCGA-32-2634-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000287387.2:c.93delT	p.Asn31LysfsTer17	p.N31Kfs*17	ENST00000287387	NM_018024.1	31	aaT/aa	0			1			-	N/X	uc003yqn.1	protein_coding	YES	CCDS6344.1			93/618									ovary(1)|skin(1)	2	c.(91-93)AATfs			hmmpanther:PTHR13035,hmmpanther:PTHR13035:SF0,Gene3D:3c9qA00,Pfam_domain:PF09764	WDYHV motif containing 1				ENSP00000287387		6-Feb										6-Feb	.		ENST00000287387	Transcript			protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity	ENSG00000156795	g.chr8:124440173delT	25490			HIGH								--	--	1																																		WDYHV1_uc011lij.1_5'UTR|WDYHV1_uc003yqo.1_5'Flank		1			p.N31fs	NM_018024	NP_060494				NTAQ1_HUMAN	WDYHV1	HGNC	Q96HA8	NTAQ1_HUMAN			E5RIY9_HUMAN,B4DE68_HUMAN		2	218	+			UPI0000073310	31					deletion	WDYHV1,frameshift_variant,p.Asn31LysfsTer17,ENST00000287387,NM_018024.1;WDYHV1,frameshift_variant,p.Asn31LysfsTer17,ENST00000523356,;WDYHV1,frameshift_variant,p.Asn31LysfsTer17,ENST00000522194,;WDYHV1,5_prime_UTR_variant,,ENST00000523984,NM_001283024.1;WDYHV1,upstream_gene_variant,,ENST00000518125,;WDYHV1,non_coding_transcript_exon_variant,,ENST00000517609,;WDYHV1,non_coding_transcript_exon_variant,,ENST00000523551,;WDYHV1,non_coding_transcript_exon_variant,,ENST00000524254,;WDYHV1,frameshift_variant,p.Ile48AsnfsTer6,ENST00000519199,;	uc003yqn.1	c.93delT	218/1349	5	5			c.93delT						8	DEL	c.(91-93)AATfs	33	33			ovary(1)|skin(1)	2	Broad	WDYHV motif containing 1			124440173		0.289	ENSG00000156795	17087	g.chr8:124440173delT	protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity																				0.37	1	1	0	1	0	0	0	0	0	--	--		0	-			WDYHV1_uc011lij.1_5'UTR|WDYHV1_uc003yqo.1_5'Flank	241	GBM-32-2634-TP	p.N31fs	T	GTGAAGAAAATATTTGGAAGC	NM_018024	NP_060494	124440173	Q96HA8	NTAQ1_HUMAN	0			2	218	+	-	-			Frame_Shift_Del	31						
WEE1	0	broad.mit.edu	GRCh37	11	9608358	9608358	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-4210-01	TCGA-32-4210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000450114.2:c.1742G>C	p.Arg581Pro	p.R581P	ENST00000450114	NM_003390.3	581	cGa/cCa	0			1			C	R/P	uc001mhs.2	protein_coding	YES	CCDS7800.1			1742/1941									central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	5	c.(1741-1743)CGA>CCA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11042:SF72,hmmpanther:PTHR11042,PIRSF_domain:PIRSF037281	WEE1 tyrosine kinase isoform 1				ENSP00000402084		11-Oct									COSM3398230	11-Oct	.		ENST00000450114	Transcript			blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity	ENSG00000166483	g.chr11:9608358G>C	12761			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=WEE1_HUMAN&rb=570&re=646&var=R581P	NA	getma.org/?cm=var&var=hg19,11,9608358,G,C&fts=all	R581P	--	--	1																																		WEE1_uc001mht.2_Missense_Mutation_p.R367P	1	1		probably_damaging(0.998)	p.R581P	NM_003390	NP_003381		deleterious(0)	1	WEE1_HUMAN	WEE1	HGNC	P30291	WEE1_HUMAN		all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)	E9PRU3_HUMAN		10	1995	+			UPI0000138EF4	581					SNV	WEE1,missense_variant,p.Arg367Pro,ENST00000299613,NM_001143976.1;WEE1,missense_variant,p.Arg581Pro,ENST00000450114,NM_003390.3;WEE1,missense_variant,p.Arg187Pro,ENST00000530712,;WEE1,missense_variant,p.Arg33Pro,ENST00000527848,;WEE1,downstream_gene_variant,,ENST00000524612,;WEE1,3_prime_UTR_variant,,ENST00000530175,;WEE1,non_coding_transcript_exon_variant,,ENST00000532275,;	uc001mhs.2	c.1742G>C	1995/2799	3	3			c.1742G>C						11	SNP	c.(1741-1743)CGA>CCA	1	1			central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	5	Broad	WEE1 tyrosine kinase isoform 1			9608358		0.348	ENSG00000166483	17088	g.chr11:9608358G>C	blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity		p.R581Q(HEC251-Tumor)	332		p.R581Q(HEC251-Tumor)	332	-13.656867	KEEP	3	0	-1	34	55	3	0	-1	7.435572	34	55	0.033708	1	0	0	0	0	1	0	0	0	--	--		0	C			WEE1_uc001mht.2_Missense_Mutation_p.R367P	245	GBM-32-4210-TP	p.R581P	G	GAACAATTACGAATAGAATTG	NM_003390	NP_003381	9608358	P30291	WEE1_HUMAN	0		all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)	10	1995	+	C	C			Missense_Mutation	581						
WFDC11	0	broad.mit.edu	GRCh37	20	44278019	44278020	+	missense_variant	Missense_Mutation	DNP	TT	TT	AA			TCGA-32-2495-01	TCGA-32-2495-01	TT	TT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324384.3:c.119_120invAA	p.Glu40Val	p.E40V	ENST00000324384	NM_147197.2	40	gAA/gTT	0			1			AA	E/V	uc002xpa.2	protein_coding		CCDS13364.1			119-120/264										0	c.(118-120)GAA>GTT			hmmpanther:PTHR19441:SF12,hmmpanther:PTHR19441	WAP four-disulfide core domain 11 precursor				ENSP00000318753		5-Apr										5-Apr	.		ENST00000324384	Transcript				extracellular region		ENSG00000180083	g.chr20:44278019_44278020TT>AA	20478			MODERATE								--	--	1																																						benign(0.111)	p.E40V	NM_147197	NP_671730		deleterious(0.04)		WFD11_HUMAN	WFDC11	HGNC	Q8NEX6	WFD11_HUMAN					4	314_315	-		Myeloproliferative disorder(115;0.0122)	UPI0000138EA6	40					substitution	WFDC11,missense_variant,p.Glu40Val,ENST00000356562,;WFDC11,missense_variant,p.Glu40Val,ENST00000324384,NM_147197.2;	uc002xpa.2	c.119_120AA>TT	314-315/614	2	2			c.119_120AA>TT						20	DNP	c.(118-120)GAA>GTT	28	28				0	Broad	WAP four-disulfide core domain 11 precursor			44278020		0.391	ENSG00000180083	17093	g.chr20:44278019_44278020TT>AA		extracellular region								-73.686862	KEEP	0	0	-1	0	0	0	0	-1	11.533327	0	0	0.021084	1	0	0	0	0	1	0	0	0	--	--		0	AA				237	GBM-32-2495-TP	p.E40V	TT	CCCAGCATTCTTCAAGTAACAA	NM_147197	NP_671730	44278019	Q8NEX6	WFD11_HUMAN	0			4	314_315	-	AA	AA		Myeloproliferative disorder(115;0.0122)	Missense_Mutation	40						
WFDC13	164237	broad.mit.edu	GRCh37	20	44334525	44334525	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0216-01	TCGA-06-0216-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305479.2:c.263T>C	p.Val88Ala	p.V88A	ENST00000305479	NM_172005.1	88	gTc/gCc	0			1			C	V/A	uc002xpd.2	protein_coding	YES	CCDS13367.1			263/282										0	c.(262-264)GTC>GCC			hmmpanther:PTHR19441,hmmpanther:PTHR19441:SF22	WAP four-disulfide core domain 13 precursor				ENSP00000302938		4-Mar									COSM2150939	4-Mar	.		ENST00000305479	Transcript				extracellular region	peptidase inhibitor activity	ENSG00000168634	g.chr20:44334525T>C	16131			MODERATE								--	--	1																																		WFDC10B_uc002xpb.2_5'Flank|WFDC10B_uc002xpc.2_5'Flank	1	1		benign(0.098)	p.V88A	NM_172005	NP_742002		tolerated(0.17)	1	WFD13_HUMAN	WFDC13	HGNC	Q8IUB5	WFD13_HUMAN					3	371	+		Myeloproliferative disorder(115;0.0122)	UPI00000747AB	88					SNV	WFDC13,missense_variant,p.Val88Ala,ENST00000305479,NM_172005.1;WFDC10B,upstream_gene_variant,,ENST00000330523,NM_172006.2;WFDC10B,upstream_gene_variant,,ENST00000335769,NM_172131.2;MIR3617,upstream_gene_variant,,ENST00000577518,;	uc002xpd.2	c.263T>C	371/1372	4	4			c.263T>C						20	SNP	c.(262-264)GTC>GCC	33	33				0	Broad	WAP four-disulfide core domain 13 precursor			44334525		0.353	ENSG00000168634	17095	g.chr20:44334525T>C		extracellular region	peptidase inhibitor activity							99.903481	KEEP	19	16	-1	39	23	19	16	-1	101.595073	39	23	0.352273	1	0	0	0	0	1	0	0	0	--	--		0	C			WFDC10B_uc002xpb.2_5'Flank|WFDC10B_uc002xpc.2_5'Flank	51	GBM-06-0216-TP	p.V88A	T	GGCTCAGAAGTCATCATGCCT	NM_172005	NP_742002	44334525	Q8IUB5	WFD13_HUMAN	0			3	371	+	C	C		Myeloproliferative disorder(115;0.0122)	Missense_Mutation	88						
WFDC3	0	broad.mit.edu	GRCh37	20	44417585	44417585	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000243938.4:c.196C>T	p.Arg66Ter	p.R66*	ENST00000243938	NM_080614.1	66	Cga/Tga	0			1			A	R/*	uc002xpf.1	protein_coding	YES	CCDS33478.1			196/696										0	c.(196-198)CGA>TGA			Gene3D:4.10.75.10,Pfam_domain:PF00095,PROSITE_profiles:PS51390,hmmpanther:PTHR19441,hmmpanther:PTHR19441:SF28,SMART_domains:SM00217,Superfamily_domains:SSF57256	WAP four-disulfide core domain 3 precursor				ENSP00000243938		7-Mar									COSM3405149	7-Mar	.		ENST00000243938	Transcript				extracellular region	serine-type endopeptidase inhibitor activity	ENSG00000124116	g.chr20:44417585G>A	15957			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,20,44417585,G,A&fts=all	R66*	--	--	1																																		DNTTIP1_uc002xpk.2_5'Flank|WFDC3_uc002xpj.1_RNA|WFDC3_uc002xph.1_RNA|WFDC3_uc010ghh.1_Intron	1	1			p.R66*	NM_080614	NP_542181			1	WFDC3_HUMAN	WFDC3	HGNC	Q8IUB2	WFDC3_HUMAN					3	280	-		Myeloproliferative disorder(115;0.0122)	UPI00000747AE	66			WAP 1.		SNV	WFDC3,stop_gained,p.Arg66Ter,ENST00000243938,NM_080614.1;WFDC3,stop_gained,p.Arg60Ter,ENST00000337205,;WFDC3,stop_gained,p.Arg66Ter,ENST00000372632,;WFDC3,intron_variant,,ENST00000372630,;DNTTIP1,upstream_gene_variant,,ENST00000372622,NM_052951.2;DNTTIP1,upstream_gene_variant,,ENST00000456939,;DNTTIP1,upstream_gene_variant,,ENST00000415790,;DNTTIP1,upstream_gene_variant,,ENST00000449078,;WFDC3,non_coding_transcript_exon_variant,,ENST00000487343,;WFDC3,non_coding_transcript_exon_variant,,ENST00000493693,;WFDC3,non_coding_transcript_exon_variant,,ENST00000467679,;WFDC3,non_coding_transcript_exon_variant,,ENST00000490877,;WFDC3,intron_variant,,ENST00000481847,;WFDC3,intron_variant,,ENST00000462017,;WFDC3,intron_variant,,ENST00000471401,;WFDC3,non_coding_transcript_exon_variant,,ENST00000465935,;	uc002xpf.1	c.196C>T	280/1000	5	2			c.196C>T						20	SNP	c.(196-198)CGA>TGA	21	21				0	Broad	WAP four-disulfide core domain 3 precursor			44417585		0.527	ENSG00000124116	17097	g.chr20:44417585G>A		extracellular region	serine-type endopeptidase inhibitor activity							-16.352726	KEEP	11	5	-1	131	140	11	5	-1	33.137971	131	140	0.060976	1	0	0	0	0	0	1	0	0	--	--		0	A			DNTTIP1_uc002xpk.2_5'Flank|WFDC3_uc002xpj.1_RNA|WFDC3_uc002xph.1_RNA|WFDC3_uc010ghh.1_Intron	139	GBM-14-0817-TP	p.R66*	G	GGAATGTCTCGGCAGATCCGA	NM_080614	NP_542181	44417585	Q8IUB2	WFDC3_HUMAN	0			3	280	-	A	A		Myeloproliferative disorder(115;0.0122)	Nonsense_Mutation	66			WAP 1.			
WFDC8	90199	broad.mit.edu	GRCh37	20	44181787	44181787	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0130-01	TCGA-06-0130-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357199.4:c.574A>G	p.Arg192Gly	p.R192G	ENST00000357199	NM_181510.2	192	Agg/Ggg	0			1			C	R/G	uc002xow.2	protein_coding		CCDS13361.1			574/726										0	c.(574-576)AGG>GGG			Superfamily_domains:SSF57256,SMART_domains:SM00217,Gene3D:4.10.75.10,hmmpanther:PTHR10083,hmmpanther:PTHR10083:SF169,PROSITE_profiles:PS51390	WAP four-disulfide core domain 8 precursor				ENSP00000289953		6-May									COSM2149548	6-May	.		ENST00000289953	Transcript				extracellular region	serine-type endopeptidase inhibitor activity	ENSG00000158901	g.chr20:44181787T>C	16163			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=WFDC8_HUMAN&rb=150&re=193&var=R192G	NA	getma.org/?cm=var&var=hg19,20,44181787,T,C&fts=all	R192G	--	--	1																																		WFDC8_uc002xox.2_Missense_Mutation_p.R192G	1			benign(0.004)	p.R192G	NM_181510	NP_852611		tolerated(0.29)	1	WFDC8_HUMAN	WFDC8	HGNC	Q8IUA0	WFDC8_HUMAN					5	653	-		Myeloproliferative disorder(115;0.0122)	UPI000016059B	192			WAP 2.		SNV	WFDC8,missense_variant,p.Arg192Gly,ENST00000357199,NM_181510.2;WFDC8,missense_variant,p.Arg192Gly,ENST00000289953,NM_130896.2;	uc002xow.2	c.574A>G	653/1069	4	4			c.574A>G						20	SNP	c.(574-576)AGG>GGG	43	43				0	Broad	WAP four-disulfide core domain 8 precursor			44181787		0.502	ENSG00000158901	17100	g.chr20:44181787T>C		extracellular region	serine-type endopeptidase inhibitor activity							71.249404	KEEP	9	21	-1	52	69	9	21	-1	82.751057	52	69	0.198529	1	0	0	0	0	1	0	0	0	--	--		0	C			WFDC8_uc002xox.2_Missense_Mutation_p.R192G	16	GBM-06-0130-TP	p.R192G	T	GTCCAGGCCCTGGCACAAACA	NM_181510	NP_852611	44181787	Q8IUA0	WFDC8_HUMAN	0			5	653	-	C	C		Myeloproliferative disorder(115;0.0122)	Missense_Mutation	192			WAP 2.			
WFDC8	0	broad.mit.edu	GRCh37	20	44180784	44180784	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01	TCGA-12-3652-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000289953.2:c.607C>T	p.Arg203Cys	p.R203C	ENST00000289953	NM_130896.2	203	Cgc/Tgc	0	A:0.0002	A:0.0008	1	A:0		A	R/C	uc002xow.2	protein_coding		CCDS13361.1			607/726										0	c.(607-609)CGC>TGC			Superfamily_domains:SSF57256,SMART_domains:SM00217,Pfam_domain:PF00095,Gene3D:4.10.75.10,hmmpanther:PTHR10083,hmmpanther:PTHR10083:SF169,PROSITE_profiles:PS51390	WAP four-disulfide core domain 8 precursor		A:0	A:0	ENSP00000289953	A:0	6-Jun	3.29E-05	0.000192		0.000116		1.50E-05			rs371165838,COSM3293634	6-Jun	.		ENST00000289953	Transcript		A:0.0002		extracellular region	serine-type endopeptidase inhibitor activity	ENSG00000158901	g.chr20:44180784G>A	16163			MODERATE		2.54	medium	getma.org/?cm=msa&ty=f&p=WFDC8_HUMAN&rb=197&re=239&var=R203C	NA	getma.org/?cm=var&var=hg19,20,44180784,G,A&fts=all	R203C	--	--	1																																		WFDC8_uc002xox.2_Missense_Mutation_p.R203C	0,1			benign(0.028)	p.R203C	NM_181510	NP_852611	A:0	tolerated(0.18)	0,1	WFDC8_HUMAN	WFDC8	HGNC	Q8IUA0	WFDC8_HUMAN					6	686	-		Myeloproliferative disorder(115;0.0122)	UPI000016059B	203			WAP 3.		SNV	WFDC8,missense_variant,p.Arg203Cys,ENST00000357199,NM_181510.2;WFDC8,missense_variant,p.Arg203Cys,ENST00000289953,NM_130896.2;EPPIN,upstream_gene_variant,,ENST00000354280,NM_020398.3;EPPIN-WFDC6,upstream_gene_variant,,ENST00000504988,NM_001198986.1;EPPIN,upstream_gene_variant,,ENST00000555685,;EPPIN,upstream_gene_variant,,ENST00000409554,;EPPIN,upstream_gene_variant,,ENST00000496898,;	uc002xow.2	c.607C>T	686/1069	2	2			c.607C>T						20	SNP	c.(607-609)CGC>TGC	43	43				0	Broad	WAP four-disulfide core domain 8 precursor			44180784		0.423	ENSG00000158901	17100	g.chr20:44180784G>A		extracellular region	serine-type endopeptidase inhibitor activity							249.343376	KEEP	57	40	-1	105	108	57	40	-1	257.543655	105	108	0.319149	1	0	0	0	0	1	0	0	0	--	--		0	A			WFDC8_uc002xox.2_Missense_Mutation_p.R203C	127	GBM-12-3652-TP	p.R203C	G	AAGGGCTTGCGTGGGCAGAAA	NM_181510	NP_852611	44180784	Q8IUA0	WFDC8_HUMAN	0			6	686	-	A	A		Myeloproliferative disorder(115;0.0122)	Missense_Mutation	203			WAP 3.			
WFDC8	0	broad.mit.edu	GRCh37	20	44184401	44184401	+	synonymous_variant	Silent	SNP	G	G	A	rs150100809	byFrequency;by1000genomes	TCGA-19-2625-01	TCGA-19-2625-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000289953.2:c.384C>T	p.Cys128=	p.C128=	ENST00000289953	NM_130896.2	128	tgC/tgT	0	A:0.0007	A:0.0015	1	A:0		A	C	uc002xow.2	protein_coding		CCDS13361.1			384/726										0	c.(382-384)TGC>TGT			Prints_domain:PR00759,Superfamily_domains:SSF57362,SMART_domains:SM00131,Gene3D:4.10.410.10,Pfam_domain:PF00014,PROSITE_patterns:PS00280,hmmpanther:PTHR10083,hmmpanther:PTHR10083:SF169,PROSITE_profiles:PS50279	WAP four-disulfide core domain 8 precursor		A:0	A:0	ENSP00000289953	A:0	6-Apr	0.00014	0.00115		0.000462		1.50E-05			rs150100809,COSM3405147	6-Apr	common_variant		ENST00000289953	Transcript		A:0.0004		extracellular region	serine-type endopeptidase inhibitor activity	ENSG00000158901	g.chr20:44184401G>A	16163			LOW								--	--	1																																		WFDC8_uc002xox.2_Silent_p.C128C	0,1				p.C128C	NM_181510	NP_852611	A:0		0,1	WFDC8_HUMAN	WFDC8	HGNC	Q8IUA0	WFDC8_HUMAN					4	463	-		Myeloproliferative disorder(115;0.0122)	UPI000016059B	128			BPTI/Kunitz inhibitor.		SNV	WFDC8,synonymous_variant,p.=,ENST00000357199,NM_181510.2;WFDC8,synonymous_variant,p.=,ENST00000289953,NM_130896.2;RNA5SP485,downstream_gene_variant,,ENST00000365053,;	uc002xow.2	c.384C>T	463/1069	2	2			c.384C>T						20	SNP	c.(382-384)TGC>TGT	22	22				0	Broad	WAP four-disulfide core domain 8 precursor			44184401		0.468	ENSG00000158901	17100	g.chr20:44184401G>A		extracellular region	serine-type endopeptidase inhibitor activity							109.682239	KEEP	21	21	-1	56	59	21	21	-1	116.530311	56	59	0.276316	1	0	0	0	0	0	0	1	0	--	--		0	A			WFDC8_uc002xox.2_Silent_p.C128C	165	GBM-19-2625-TP	p.C128C	G	CATTCCCTTCGCAGCCCCTGT	NM_181510	NP_852611	44184401	Q8IUA0	WFDC8_HUMAN	0			4	463	-	A	A		Myeloproliferative disorder(115;0.0122)	Silent	128			BPTI/Kunitz inhibitor.			
WFDC9	259240	broad.mit.edu	GRCh37	20	44237357	44237357	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs139643257	byFrequency;by1000genomes	TCGA-06-5412-01	TCGA-06-5412-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326000.1:c.184C>T	p.Arg62Cys	p.R62C	ENST00000326000	NM_147198.3	62	Cgt/Tgt	0	A:0.0016	A:0	1	A:0		A	R/C	uc002xoy.2	protein_coding	YES	CCDS13362.1			184/270										0	c.(184-186)CGT>TGT			hmmpanther:PTHR19441:SF16,hmmpanther:PTHR19441	protease inhibitor WAP9 precursor		A:0	A:0.0049	ENSP00000320532	A:0.003	5-Apr	0.00236	0.000961	0.000346	0.000116	0.000151	0.00405			rs139643257,COSM3405148	5-Apr	common_variant		ENST00000326000	Transcript		A:0.0006		extracellular region		ENSG00000180205	g.chr20:44237357G>A	20380			MODERATE								--	--	1																																			0,1	1		possibly_damaging(0.627)	p.R62C	NM_147198	NP_671731	A:0	tolerated(0.18)	0,1	WFDC9_HUMAN	WFDC9	HGNC	Q8NEX5	WFDC9_HUMAN					4	402	-		Myeloproliferative disorder(115;0.0122)	UPI0000138EAD	62					SNV	WFDC9,missense_variant,p.Arg62Cys,ENST00000326000,NM_147198.3;	uc002xoy.2	c.184C>T	402/659	1	1			c.184C>T						20	SNP	c.(184-186)CGT>TGT	61	61				0	Broad	protease inhibitor WAP9 precursor			44237357		0.453	ENSG00000180205	17101	g.chr20:44237357G>A		extracellular region								2.682849	KEEP	7	3	-1	38	71	7	3	-1	19.976621	38	71	0.095238	1	0	0	0	0	1	0	0	0	--	--		0	A				95	GBM-06-5412-TP	p.R62C	G	TGATTTGGACGTACACAAGTC	NM_147198	NP_671731	44237357	Q8NEX5	WFDC9_HUMAN	0			4	402	-	A	A		Myeloproliferative disorder(115;0.0122)	Missense_Mutation	62						
WFIKKN1	0	broad.mit.edu	GRCh37	16	683877	683877	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000319070.2:c.1467C>A	p.Cys489Ter	p.C489*	ENST00000319070	NM_053284.2	489	tgC/tgA	0			1			A	C/*	uc002cht.1	protein_coding	YES	CCDS10414.1			1467/1647										0	c.(1465-1467)TGC>TGA			PROSITE_profiles:PS50189,hmmpanther:PTHR10083:SF87,hmmpanther:PTHR10083,Pfam_domain:PF01759,Gene3D:2.40.50.120,Superfamily_domains:SSF50242	WAP, follistatin/kazal, immunoglobulin, kunitz				ENSP00000324763		2-Feb									COSM3402436	2-Feb	.		ENST00000319070	Transcript				extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	ENSG00000127578	g.chr16:683877C>A	30912			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,16,683877,C,A&fts=all	C489*	--	--	1																																		WFIKKN1_uc002chs.1_3'UTR|uc010uuk.1_5'Flank	1	1			p.C489*	NM_053284	NP_444514			1	WFKN1_HUMAN	WFIKKN1	HGNC	Q96NZ8	WFKN1_HUMAN					2	1709	+		Hepatocellular(780;0.00335)	UPI0000043725	489			NTR.		SNV	WFIKKN1,stop_gained,p.Cys489Ter,ENST00000319070,NM_053284.2;RAB40C,downstream_gene_variant,,ENST00000535977,NM_001172663.1;RAB40C,downstream_gene_variant,,ENST00000248139,NM_021168.4;RAB40C,downstream_gene_variant,,ENST00000539661,NM_001172664.1;RAB40C,downstream_gene_variant,,ENST00000538492,NM_001172665.1,NM_001172666.1;C16orf13,downstream_gene_variant,,ENST00000301686,NM_032366.3;C16orf13,downstream_gene_variant,,ENST00000397666,NM_001040160.1;C16orf13,downstream_gene_variant,,ENST00000397664,NM_001040162.1;C16orf13,downstream_gene_variant,,ENST00000568830,;C16orf13,downstream_gene_variant,,ENST00000397665,NM_001040165.1;C16orf13,downstream_gene_variant,,ENST00000338401,NM_001040161.1;C16orf13,downstream_gene_variant,,ENST00000568773,;C16orf13,downstream_gene_variant,,ENST00000565163,;WFIKKN1,non_coding_transcript_exon_variant,,ENST00000573440,;RAB40C,downstream_gene_variant,,ENST00000561781,;C16orf13,downstream_gene_variant,,ENST00000448973,;C16orf13,downstream_gene_variant,,ENST00000456420,;C16orf13,downstream_gene_variant,,ENST00000565799,;C16orf13,downstream_gene_variant,,ENST00000568077,;C16orf13,downstream_gene_variant,,ENST00000564039,;	uc002cht.1	c.1467C>A	1789/2028	5	2			c.1467C>A						16	SNP	c.(1465-1467)TGC>TGA	43	43				0	Broad	WAP, follistatin/kazal, immunoglobulin, kunitz			683877		0.677	ENSG00000127578	17102	g.chr16:683877C>A		extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity							6.310991	KEEP	3	0	-1	12	3	3	0	-1	6.42479	12	3	0.375	1	0	0	0	0	0	1	0	0	--	--		0	A			WFIKKN1_uc002chs.1_3'UTR|uc010uuk.1_5'Flank	246	GBM-32-4211-TP	p.C489*	C	ACTGGGCCTGCCCCTGCCCCA	NM_053284	NP_444514	683877	Q96NZ8	WFKN1_HUMAN	0			2	1709	+	A	A		Hepatocellular(780;0.00335)	Nonsense_Mutation	489			NTR.			
WFS1	0	broad.mit.edu	GRCh37	4	6302612	6302612	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000226760.1:c.1090G>A	p.Val364Met	p.V364M	ENST00000226760	NM_001145853.1	364	Gtg/Atg	0			1			A	V/M	uc003giy.2	protein_coding	YES	CCDS3386.1			1090/2673									central_nervous_system(2)	2	c.(1090-1092)GTG>ATG			hmmpanther:PTHR13098	wolframin				ENSP00000226760		8-Aug									COSM3409397	8-Aug	.		ENST00000226760	Transcript	1		endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	ENSG00000109501	g.chr4:6302612G>A	12762			MODERATE		1.52	low	getma.org/?cm=msa&ty=f&p=WFS1_HUMAN&rb=201&re=400&var=V364M	NA	getma.org/?cm=var&var=hg19,4,6302612,G,A&fts=all	V364M	--	--	1																																		WFS1_uc003gix.2_Missense_Mutation_p.V364M|WFS1_uc003giz.2_Missense_Mutation_p.V182M	1	1		benign(0.384)	p.V364M	NM_001145853	NP_001139325		tolerated(0.26)	1	WFS1_HUMAN	WFS1	HGNC	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	B4DJ99_HUMAN		8	1256	+			UPI00000715C3	364					SNV	WFS1,missense_variant,p.Val364Met,ENST00000226760,NM_001145853.1,NM_006005.3;WFS1,missense_variant,p.Val364Met,ENST00000503569,;WFS1,missense_variant,p.Val242Met,ENST00000506362,;WFS1,non_coding_transcript_exon_variant,,ENST00000507765,;WFS1,downstream_gene_variant,,ENST00000513395,;	uc003giy.2	c.1090G>A	1260/3640	2	2			c.1090G>A						4	SNP	c.(1090-1092)GTG>ATG	45	45			central_nervous_system(2)	2	Broad	wolframin			6302612		0.572	ENSG00000109501	17104	g.chr4:6302612G>A	endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding							144.610501	KEEP	32	26	-1	56	68	32	26	-1	149.701145	56	68	0.315476	1	0	0	0	0	1	0	0	0	--	--		0	A			WFS1_uc003gix.2_Missense_Mutation_p.V364M|WFS1_uc003giz.2_Missense_Mutation_p.V182M	190	GBM-27-1831-TP	p.V364M	G	CACCCTCAAGGTGTTCCAGGA	NM_001145853	NP_001139325	6302612	O76024	WFS1_HUMAN	0		Colorectal(103;0.0512)	8	1256	+	A	A			Missense_Mutation	364						
WHSC1	0	broad.mit.edu	GRCh37	4	1955109	1955109	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-27-1833-01	TCGA-27-1833-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382891.5:c.2196A>G	p.Val732=	p.V732=	ENST00000382891	NM_133335.3	732	gtA/gtG	0			1			G	V	uc003gdz.3	protein_coding		CCDS33940.1			2196/4098	T		IGH@		MM				ovary(3)|lung(3)|skin(2)|pancreas(1)	9	c.(2194-2196)GTA>GTG			PROSITE_profiles:PS50089,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF293,SMART_domains:SM00249,SMART_domains:SM00184	Wolf-Hirschhorn syndrome candidate 1 protein				ENSP00000372347		22-Dec									COSM3409221,COSM3409222	22-Dec	.		ENST00000382891	Transcript	1		anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	ENSG00000109685	g.chr4:1955109A>G	12766			LOW								--	--	1																																		WHSC1_uc003geb.3_Silent_p.V732V|WHSC1_uc003gec.3_Silent_p.V732V|WHSC1_uc003ged.3_Silent_p.V732V|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_5'UTR|WHSC1_uc011bvh.1_5'UTR|WHSC1_uc010icf.2_Silent_p.V80V	1,1				p.V732V	NM_001042424	NP_001035889			1,1	NSD2_HUMAN	WHSC1	HGNC	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	D6RIS1_HUMAN,D6RFE7_HUMAN,D6R9V2_HUMAN		12	2372	+		all_epithelial(65;1.34e-05)	UPI0000073F57	732			PHD-type 2.		SNV	WHSC1,synonymous_variant,p.=,ENST00000382895,NM_133330.2;WHSC1,synonymous_variant,p.=,ENST00000382892,NM_133331.2;WHSC1,synonymous_variant,p.=,ENST00000382891,NM_133335.3;WHSC1,synonymous_variant,p.=,ENST00000508803,NM_001042424.2;WHSC1,synonymous_variant,p.=,ENST00000382888,;WHSC1,intron_variant,,ENST00000514329,;WHSC1,downstream_gene_variant,,ENST00000503128,;WHSC1,downstream_gene_variant,,ENST00000398261,NM_133334.2;WHSC1,non_coding_transcript_exon_variant,,ENST00000482415,;WHSC1,non_coding_transcript_exon_variant,,ENST00000505643,;WHSC1,non_coding_transcript_exon_variant,,ENST00000503207,;WHSC1,non_coding_transcript_exon_variant,,ENST00000513726,;WHSC1,non_coding_transcript_exon_variant,,ENST00000502425,;WHSC1,3_prime_UTR_variant,,ENST00000312087,;WHSC1,3_prime_UTR_variant,,ENST00000353275,;WHSC1,downstream_gene_variant,,ENST00000511904,;WHSC1,upstream_gene_variant,,ENST00000507094,;	uc003gdz.3	c.2196A>G	2335/7534	3	3			c.2196A>G	T		IGH@		MM	4	SNP	c.(2194-2196)GTA>GTG	56	56			ovary(3)|lung(3)|skin(2)|pancreas(1)	9	Broad	Wolf-Hirschhorn syndrome candidate 1 protein			1955109		0.458	ENSG00000109685	17106	g.chr4:1955109A>G	anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			355			355	532.74464	KEEP	86	78	-1	122	104	86	78	-1	534.670485	122	104	0.420904	1	0	0	0	0	0	0	1	0	--	--		0	G			WHSC1_uc003geb.3_Silent_p.V732V|WHSC1_uc003gec.3_Silent_p.V732V|WHSC1_uc003ged.3_Silent_p.V732V|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_5'UTR|WHSC1_uc011bvh.1_5'UTR|WHSC1_uc010icf.2_Silent_p.V80V	192	GBM-27-1833-TP	p.V732V	A	GCTGTGTGGTAACTCAGTGTG	NM_001042424	NP_001035889	1955109	O96028	NSD2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	12	2372	+	G	G		all_epithelial(65;1.34e-05)	Silent	732			PHD-type 2.			
WHSC1			GRCh37	4	1902364	1902364	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000382891.5:c.-18C>T		p.*6*	ENST00000382891	NM_133335.3			0																																																																																																																																																																																																																																												
WHSC1L1	0	broad.mit.edu	GRCh37	8	38148069	38148069	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-2518-01	TCGA-27-2518-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317025.8:c.3042C>T	p.Gly1014=	p.G1014=	ENST00000317025	NM_023034.1	1014	ggC/ggT	0			1			A	G	uc003xli.2	protein_coding	YES	CCDS43729.1			3042/4314	T		NUP98		AML				breast(1)	1	c.(3040-3042)GGC>GGT			PROSITE_profiles:PS50812,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF301,Pfam_domain:PF00855,Gene3D:2.30.30.160,SMART_domains:SM00293,Superfamily_domains:SSF63748	WHSC1L1 protein isoform long				ENSP00000313983		17/24									COSM2157278	17/24	.		ENST00000317025	Transcript			cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	ENSG00000147548	g.chr8:38148069G>A	12767			LOW								--	--	1																																		WHSC1L1_uc011lbm.1_Silent_p.G1014G|WHSC1L1_uc010lwe.2_Silent_p.G965G	1	1			p.G1014G	NM_023034	NP_075447			1	NSD3_HUMAN	WHSC1L1	HGNC	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		E9PQ95_HUMAN,E9PKA2_HUMAN		17	3560	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	UPI000006F297	1014			PWWP 2.		SNV	WHSC1L1,synonymous_variant,p.=,ENST00000317025,NM_023034.1;WHSC1L1,synonymous_variant,p.=,ENST00000433384,;WHSC1L1,synonymous_variant,p.=,ENST00000527502,;WHSC1L1,non_coding_transcript_exon_variant,,ENST00000526050,;	uc003xli.2	c.3042C>T	3560/10776	2	2			c.3042C>T	T		NUP98		AML	8	SNP	c.(3040-3042)GGC>GGT	30	30			breast(1)	1	Broad	WHSC1L1 protein isoform long			38148069		0.463	ENSG00000147548	17107	g.chr8:38148069G>A	cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			521			521	214.685447	KEEP	54	49	-1	159	138	54	49	-1	233.186089	159	138	0.264865	1	0	0	0	0	0	0	1	0	--	--		0	A			WHSC1L1_uc011lbm.1_Silent_p.G1014G|WHSC1L1_uc010lwe.2_Silent_p.G965G	198	GBM-27-2518-TP	p.G1014G	G	GGAACACTCTGCCCTGGTGTA	NM_023034	NP_075447	38148069	Q9BZ95	NSD3_HUMAN	0	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		17	3560	-	A	A	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Silent	1014			PWWP 2.			
WIF1	0	broad.mit.edu	GRCh37	12	65460443	65460443	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-14-0871-01	TCGA-14-0871-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000286574.4:c.708C>A	p.Phe236Leu	p.F236L	ENST00000286574	NM_007191.4	236	ttC/ttA	0			1			T	F/L	uc001ssk.2	protein_coding	YES	CCDS8971.1			708/1140	T		HMGA2		pleomorphic salivary gland adenoma				ovary(2)|lung(1)|skin(1)	4	c.(706-708)TTC>TTA			PROSITE_profiles:PS50026,hmmpanther:PTHR24838,hmmpanther:PTHR24838:SF30,PROSITE_patterns:PS01186,PROSITE_patterns:PS00022,Gene3D:2.10.25.10,Pfam_domain:PF12661,SMART_domains:SM00181	WNT inhibitory factor 1 precursor				ENSP00000286574		10-Jun									COSM3398992,COSM3398991	10-Jun	.		ENST00000286574	Transcript			multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	ENSG00000156076	g.chr12:65460443G>T	18081			MODERATE		2.56	medium	getma.org/?cm=msa&ty=f&p=WIF1_HUMAN&rb=209&re=261&var=F236L	getma.org/pdb.php?prot=WIF1_HUMAN&from=229&to=241&var=F236L	getma.org/?cm=var&var=hg19,12,65460443,G,T&fts=all	F236L	--	--	1																																			1,1	1		benign(0.292)	p.F236L	NM_007191	NP_009122		tolerated(0.17)	1,1	WIF1_HUMAN	WIF1	HGNC	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	F5H8A3_HUMAN,B4DX53_HUMAN		6	853	-			UPI0000038BEE	236			EGF-like 2.		SNV	WIF1,missense_variant,p.Phe236Leu,ENST00000286574,NM_007191.4;WIF1,downstream_gene_variant,,ENST00000546001,;WIF1,upstream_gene_variant,,ENST00000543094,;	uc001ssk.2	c.708C>A	1083/2238	1	1			c.708C>A	T		HMGA2		pleomorphic salivary gland adenoma	12	SNP	c.(706-708)TTC>TTA	6	6			ovary(2)|lung(1)|skin(1)	4	Broad	WNT inhibitory factor 1 precursor			65460443		0.373	ENSG00000156076	17110	g.chr12:65460443G>T	multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	Esophageal Squamous(148;1595 1816 48559 49439 49664)		284	Esophageal Squamous(148;1595 1816 48559 49439 49664)		284	35.558782	KEEP	9	8	0.529411765	24	38	9	8	0.529411765	41.253527	24	38	0.213333	1	0	0	0	0	1	0	0	0	--	--		0	T				141	GBM-14-0871-TP	p.F236L	G	TCACTCCATAGAATCCAGGTG	NM_007191	NP_009122	65460443	Q9Y5W5	WIF1_HUMAN	0	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	6	853	-	T	T			Missense_Mutation	236			EGF-like 2.			
WIPF1	0	broad.mit.edu	GRCh37	2	175432647	175432647	+	synonymous_variant	Silent	SNP	A	A	C	rs34236584		TCGA-26-5134-01	TCGA-26-5134-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359761.3:c.1284T>G	p.Pro428=	p.P428=	ENST00000359761		428	ccT/ccG	0			1			C	P	uc002uiy.2	protein_coding		CCDS2260.1			1284/1512									ovary(1)|skin(1)	2	c.(1282-1284)CCT>CCG			Low_complexity_(Seg):seg,hmmpanther:PTHR23202:SF30,hmmpanther:PTHR23202	WAS/WASL interacting protein family, member 1				ENSP00000352802		8-Jun									COSM2156999,COSM3407070,COSM3407071	8-Jun	.		ENST00000359761	Transcript	1		actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	ENSG00000115935	g.chr2:175432647A>C	12736			LOW								--	--	1																																		uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Silent_p.P428P|WIPF1_uc010fqt.1_Silent_p.P428P|WIPF1_uc002uiz.2_Silent_p.P428P|WIPF1_uc002ujb.1_Silent_p.P428P	1,1,1				p.P428P	NM_003387	NP_003378			1,1,1	WIPF1_HUMAN	WIPF1	HGNC	O43516	WIPF1_HUMAN			C9JTB9_HUMAN		7	1616	-			UPI000013D4BD	428			Pro-rich.		SNV	WIPF1,synonymous_variant,p.=,ENST00000392547,NM_003387.4;WIPF1,synonymous_variant,p.=,ENST00000272746,NM_001077269.1;WIPF1,synonymous_variant,p.=,ENST00000409891,;WIPF1,synonymous_variant,p.=,ENST00000392546,;WIPF1,synonymous_variant,p.=,ENST00000359761,;WIPF1,downstream_gene_variant,,ENST00000409415,;WIPF1,downstream_gene_variant,,ENST00000455428,;AC018890.6,intron_variant,,ENST00000442996,;AC018890.6,intron_variant,,ENST00000412835,;WIPF1,non_coding_transcript_exon_variant,,ENST00000467149,;	uc002uiy.2	c.1284T>G	1432/2003	4	4			c.1284T>G						2	SNP	c.(1282-1284)CCT>CCG	48	48			ovary(1)|skin(1)	2	Broad	WAS/WASL interacting protein family, member 1			175432647		0.587	ENSG00000115935	17111	g.chr2:175432647A>C	actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding							203.277181	KEEP	36	47	-1	54	50	36	47	-1	204.081069	54	50	0.426901	1	0	0	0	0	0	0	1	0	--	--		0	C			uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Silent_p.P428P|WIPF1_uc010fqt.1_Silent_p.P428P|WIPF1_uc002uiz.2_Silent_p.P428P|WIPF1_uc002ujb.1_Silent_p.P428P	183	GBM-26-5134-TP	p.P428P	A	GAGGTGGGGGAGGTGCCCCAG	NM_003387	NP_003378	175432647	O43516	WIPF1_HUMAN	0			7	1616	-	C	C			Silent	428			Pro-rich.			
WIPI1	0	broad.mit.edu	GRCh37	17	66417949	66417949	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2521-01	TCGA-27-2521-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262139.5:c.1306C>T	p.Arg436Cys	p.R436C	ENST00000262139	NM_017983.5	436	Cgt/Tgt	0			1			A	R/C	uc010dey.2	protein_coding	YES	CCDS11677.1			1306/1341										0	c.(1306-1308)CGT>TGT			hmmpanther:PTHR11227:SF23,hmmpanther:PTHR11227	WD repeat domain, phosphoinositide interacting				ENSP00000262139		13/13									COSM3403147	13/13	.		ENST00000262139	Transcript			macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	ENSG00000070540	g.chr17:66417949G>A	25471			MODERATE		1.265	low	getma.org/?cm=msa&ty=f&p=WIPI1_HUMAN&rb=412&re=446&var=R436C	NA	getma.org/?cm=var&var=hg19,17,66417949,G,A&fts=all	R436C	--	--	1																																		WIPI1_uc002jhd.3_RNA|WIPI1_uc010wqo.1_Missense_Mutation_p.R354C|WIPI1_uc002jhe.3_RNA	1	1		possibly_damaging(0.487)	p.R436C	NM_017983	NP_060453		deleterious_low_confidence(0)	1	WIPI1_HUMAN	WIPI1	HGNC	Q5MNZ9	WIPI1_HUMAN			G5EA37_HUMAN		13	1397	-			UPI00001AE822	436					SNV	WIPI1,missense_variant,p.Arg436Cys,ENST00000262139,NM_017983.5;WIPI1,missense_variant,p.Arg354Cys,ENST00000546360,;ARSG,3_prime_UTR_variant,,ENST00000448504,NM_014960.4;WIPI1,3_prime_UTR_variant,,ENST00000585393,;ARSG,downstream_gene_variant,,ENST00000452479,NM_001267727.1;WIPI1,downstream_gene_variant,,ENST00000591744,;MIR635,downstream_gene_variant,,ENST00000384830,;WIPI1,non_coding_transcript_exon_variant,,ENST00000589459,;RP11-120M18.2,intron_variant,,ENST00000592030,;RP11-120M18.2,intron_variant,,ENST00000590353,;RP11-120M18.2,intron_variant,,ENST00000586515,;RP11-120M18.2,intron_variant,,ENST00000591567,;ARSG,downstream_gene_variant,,ENST00000582154,;ARSG,downstream_gene_variant,,ENST00000578554,;WIPI1,missense_variant,p.Arg72Cys,ENST00000592645,;WIPI1,3_prime_UTR_variant,,ENST00000589316,;ARSG,downstream_gene_variant,,ENST00000590690,;WIPI1,downstream_gene_variant,,ENST00000590402,;	uc010dey.2	c.1306C>T	1306/1832	1	1			c.1306C>T						17	SNP	c.(1306-1308)CGT>TGT	52	52				0	Broad	WD repeat domain, phosphoinositide interacting			66417949		0.468	ENSG00000070540	17114	g.chr17:66417949G>A	macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding							451.405708	KEEP	64	96	-1	89	94	64	96	-1	451.938534	89	94	0.454545	1	0	0	0	0	1	0	0	0	--	--		0	A			WIPI1_uc002jhd.3_RNA|WIPI1_uc010wqo.1_Missense_Mutation_p.R354C|WIPI1_uc002jhe.3_RNA	200	GBM-27-2521-TP	p.R436C	G	TGATTTCCACGGCACAAGATT	NM_017983	NP_060453	66417949	Q5MNZ9	WIPI1_HUMAN	0			13	1397	-	A	A			Missense_Mutation	436						
WISP1			GRCh37	8	134239690	134239690	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000250160.6:c.841G>A	p.Ala281Thr	p.A281T	ENST00000250160	NM_003882.3	281	Gca/Aca	0																																																																																																																																																																																																																																												
WISP3	0	broad.mit.edu	GRCh37	6	112385979	112385979	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0875-01	TCGA-06-0875-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361714.1:c.422A>G	p.Glu141Gly	p.E141G	ENST00000361714		141	gAg/gGg	0			1			G	E/G	uc003pvm.2	protein_coding		CCDS5098.1			368/1065										0	c.(367-369)GAG>GGG			hmmpanther:PTHR11348:SF3,hmmpanther:PTHR11348,PIRSF_domain:PIRSF036495,Superfamily_domains:SSF57603	WNT1 inducible signaling pathway protein 3				ENSP00000230529		6-Apr									COSM2151988	6-Apr	.		ENST00000230529	Transcript	1		cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding	ENSG00000112761	g.chr6:112385979A>G	12771			MODERATE		2.745	medium	getma.org/?cm=msa&ty=f&p=WISP3_HUMAN&rb=101&re=210&var=E123G	NA	getma.org/?cm=var&var=hg19,6,112385979,A,G&fts=all	E123G	--	--	1																																		WISP3_uc003pvn.2_RNA|WISP3_uc003pvo.2_Missense_Mutation_p.E141G	1			probably_damaging(0.96)	p.E123G	NM_003880	NP_003871		tolerated(0.11)	1	WISP3_HUMAN	WISP3	HGNC	O95389	WISP3_HUMAN		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	Q3T1A9_HUMAN		4	478	+		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	UPI000004E930	123					SNV	WISP3,missense_variant,p.Glu141Gly,ENST00000361714,;WISP3,missense_variant,p.Glu123Gly,ENST00000368666,NM_198239.1;WISP3,missense_variant,p.Glu123Gly,ENST00000604763,;WISP3,missense_variant,p.Glu123Gly,ENST00000230529,NM_003880.3;WISP3,missense_variant,p.Glu100Gly,ENST00000368663,;WISP3,5_prime_UTR_variant,,ENST00000409166,;WISP3,missense_variant,p.Glu123Gly,ENST00000454589,;WISP3,missense_variant,p.Glu141Gly,ENST00000368664,;	uc003pvm.2	c.368A>G	478/1235	4	4			c.368A>G						6	SNP	c.(367-369)GAG>GGG	18	18				0	Broad	WNT1 inducible signaling pathway protein 3			112385979		0.458	ENSG00000112761	17118	g.chr6:112385979A>G	cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding							272.753405	KEEP	54	37	-1	121	81	54	37	-1	281.199573	121	81	0.313869	1	0	0	0	0	1	0	0	0	--	--		0	G			WISP3_uc003pvn.2_RNA|WISP3_uc003pvo.2_Missense_Mutation_p.E141G	71	GBM-06-0875-TP	p.E123G	A	GTTGGGTGCGAGTTCAACCAG	NM_003880	NP_003871	112385979	O95389	WISP3_HUMAN	0		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	4	478	+	G	G		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	Missense_Mutation	123						
WLS	0	broad.mit.edu	GRCh37	1	68603590	68603590	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1977-01	TCGA-32-1977-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262348.4:c.1389C>T	p.Gly463=	p.G463=	ENST00000262348	NM_024911.6	463	ggC/ggT	0		A:0	1	A:0.0014		A	G	uc001def.1	protein_coding		CCDS642.1			1389/1626										0	c.(1387-1389)GGC>GGT			hmmpanther:PTHR13449,hmmpanther:PTHR13449:SF1,Pfam_domain:PF06664	G protein-coupled receptor 177 isoform 1		A:0		ENSP00000262348	A:0	12-Nov	4.94E-05			0.000116		4.50E-05		6.06E-05	rs537667082,COSM1639952,COSM1639951	12-Nov	.		ENST00000262348	Transcript		A:0.0002	multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity	ENSG00000116729	g.chr1:68603590G>A	30238			LOW								--	--	1																																		uc001deb.1_Intron|uc001dec.1_Intron|WLS_uc001dee.2_Silent_p.G461G|WLS_uc001deg.1_Silent_p.G372G|WLS_uc009wbf.1_Silent_p.G418G	0,1,1				p.G463G	NM_024911	NP_079187	A:0		0,1,1	WLS_HUMAN	WLS	HGNC	Q5T9L3	WLS_HUMAN			Q9H5T0_HUMAN,Q96IV8_HUMAN,E9PQK1_HUMAN,E9PM62_HUMAN,E9PKJ0_HUMAN,E9PJW4_HUMAN		11	1660	-			UPI0000049FDB	463			Lumenal (Potential).		SNV	WLS,synonymous_variant,p.=,ENST00000262348,NM_024911.6;WLS,synonymous_variant,p.=,ENST00000370976,NM_001193334.1;WLS,synonymous_variant,p.=,ENST00000540432,;WLS,synonymous_variant,p.=,ENST00000354777,NM_001002292.3;GNG12-AS1,intron_variant,,ENST00000420587,;GNG12-AS1,intron_variant,,ENST00000413628,;GNG12-AS1,upstream_gene_variant,,ENST00000434072,;WLS,non_coding_transcript_exon_variant,,ENST00000498615,;WLS,downstream_gene_variant,,ENST00000491811,;	uc001def.1	c.1389C>T	1643/2748	1	1			c.1389C>T						1	SNP	c.(1387-1389)GGC>GGT	49	49				0	Broad	G protein-coupled receptor 177 isoform 1			68603590		0.443	ENSG00000116729	17120	g.chr1:68603590G>A	multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity			563			563	20.900103	KEEP	6	14	-1	59	70	6	14	-1	38.494033	59	70	0.133333	1	0	0	0	0	0	0	1	0	--	--		0	A			uc001deb.1_Intron|uc001dec.1_Intron|WLS_uc001dee.2_Silent_p.G461G|WLS_uc001deg.1_Silent_p.G372G|WLS_uc009wbf.1_Silent_p.G418G	229	GBM-32-1977-TP	p.G463G	G	CTGTGACGCCGCCCCATTTCC	NM_024911	NP_079187	68603590	Q5T9L3	WLS_HUMAN	0			11	1660	-	A	A			Silent	463			Lumenal (Potential).			
WLS	79971		GRCh37	1	68610274	68610274	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000354777.2:c.1334T>C	p.Val445Ala	p.V445A	ENST00000354777	NM_001002292.3	445	gTc/gCc	0																																																																																																																																																																																																																																												
WNK1	0	broad.mit.edu	GRCh37	12	998382	998382	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01	TCGA-16-0861-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315939.6:c.5441C>T	p.Ala1814Val	p.A1814V	ENST00000315939	NM_018979.3	1814	gCg/gTg	0			1			T	A/V	uc001qio.3	protein_coding	YES	CCDS8506.1			5441/7149									stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	c.(5440-5442)GCG>GTG			hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF46	WNK lysine deficient protein kinase 1				ENSP00000313059		21/28									COSM3399209,COSM3399208	21/28	.		ENST00000315939	Transcript	1		intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	ENSG00000060237	g.chr12:998382C>T	14540			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=WNK1_HUMAN&rb=1274&re=2054&var=A1814V	NA	getma.org/?cm=var&var=hg19,12,998382,C,T&fts=all	A1814V	--	--	1																																		WNK1_uc001qip.3_Missense_Mutation_p.A1567V|WNK1_uc001qir.3_Missense_Mutation_p.A987V	1,1	1		benign(0.024)	p.A1814V	NM_018979	NP_061852		tolerated(0.16)	1,1	WNK1_HUMAN	WNK1	HGNC	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		Q96CZ6_HUMAN		21	5948	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		UPI000013CD65	1814					SNV	WNK1,missense_variant,p.Ala2074Val,ENST00000537687,NM_001184985.1,NM_213655.4;WNK1,missense_variant,p.Ala1814Val,ENST00000315939,NM_018979.3;WNK1,missense_variant,p.Ala1567Val,ENST00000535572,NM_014823.2;WNK1,missense_variant,p.Ala2312Val,ENST00000530271,;WNK1,missense_variant,p.Ala1407Val,ENST00000340908,;WNK1,downstream_gene_variant,,ENST00000534872,;	uc001qio.3	c.5441C>T	6084/10452	2	2			c.5441C>T						12	SNP	c.(5440-5442)GCG>GTG	47	47			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	Broad	WNK lysine deficient protein kinase 1			998382		0.368	ENSG00000060237	17121	g.chr12:998382C>T	intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	Colon(19;451 567 6672 12618 28860)		913	Colon(19;451 567 6672 12618 28860)		913	153.073447	KEEP	31	29	-1	79	59	31	29	-1	159.134566	79	59	0.305556	1	0	0	0	0	1	0	0	0	--	--		0	T			WNK1_uc001qip.3_Missense_Mutation_p.A1567V|WNK1_uc001qir.3_Missense_Mutation_p.A987V	156	GBM-16-0861-TP	p.A1814V	C	GTGACTTCTGCGGTTGGTGTA	NM_018979	NP_061852	998382	Q9H4A3	WNK1_HUMAN	0	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		21	5948	+	T	T	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Missense_Mutation	1814						
WNK2	65268	broad.mit.edu	GRCh37	9	96030181	96030181	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-2569-01	TCGA-06-2569-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297954.4:c.3850G>T	p.Gly1284Cys	p.G1284C	ENST00000297954	NM_001282394.1	1284	Ggc/Tgc	0			1			T	G/C	uc004ati.1	protein_coding	YES				3850/6894									lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12	c.(3850-3852)GGC>TGC			hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF10	WNK lysine deficient protein kinase 2				ENSP00000297954		16/30									COSM3413828,COSM3413827,COSM3413829,COSM3413830	16/30	.		ENST00000297954	Transcript			intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	ENSG00000165238	g.chr9:96030181G>T	14542			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=A6PVR4_HUMAN&rb=741&re=939&var=G887C	NA	getma.org/?cm=var&var=hg19,9,96030181,G,T&fts=all	G887C	--	--	1																																		WNK2_uc011lud.1_Missense_Mutation_p.G1284C|WNK2_uc004atj.2_Missense_Mutation_p.G1284C|WNK2_uc004atk.2_Missense_Mutation_p.G921C	1,1,1,1	1		unknown(0)	p.G1284C	NM_006648	NP_006639			1,1,1,1	WNK2_HUMAN	WNK2	HGNC	Q9Y3S1	WNK2_HUMAN					16	3850	+			UPI0000236D76	1284					SNV	WNK2,missense_variant,p.Gly1280Cys,ENST00000432730,;WNK2,missense_variant,p.Gly1284Cys,ENST00000297954,NM_001282394.1;WNK2,missense_variant,p.Gly896Cys,ENST00000349097,;WNK2,missense_variant,p.Gly1284Cys,ENST00000395477,NM_006648.3;WNK2,missense_variant,p.Gly888Cys,ENST00000411624,;WNK2,missense_variant,p.Gly896Cys,ENST00000427277,;WNK2,missense_variant,p.Gly81Cys,ENST00000448251,;WNK2,5_prime_UTR_variant,,ENST00000356055,;WNK2,3_prime_UTR_variant,,ENST00000395475,;WNK2,non_coding_transcript_exon_variant,,ENST00000478583,;WNK2,downstream_gene_variant,,ENST00000462595,;	uc004ati.1	c.3850G>T	3850/7138	1	1			c.3850G>T						9	SNP	c.(3850-3852)GGC>TGC	8	8			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12	Broad	WNK lysine deficient protein kinase 2			96030181		0.657	ENSG00000165238	17122	g.chr9:96030181G>T	intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			1420			1420	14.470489	KEEP	3	6	0.333333333	12	9	3	6	0.333333333	15.268224	12	9	0.277778	1	0	0	0	0	1	0	0	0	--	--		0	T			WNK2_uc011lud.1_Missense_Mutation_p.G1284C|WNK2_uc004atj.2_Missense_Mutation_p.G1284C|WNK2_uc004atk.2_Missense_Mutation_p.G921C	90	GBM-06-2569-TP	p.G1284C	G	CAGCACCTGCGGCCTGGGCAC	NM_006648	NP_006639	96030181	Q9Y3S1	WNK2_HUMAN	0			16	3850	+	T	T			Missense_Mutation	1284						
WNK2	0	broad.mit.edu	GRCh37	9	96051416	96051416	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-12-3652-01	TCGA-12-3652-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297954.4:c.4491A>G	p.Pro1497=	p.P1497=	ENST00000297954	NM_001282394.1	1497	ccA/ccG	0		G:0	1	G:0		G	P	uc004ati.1	protein_coding	YES				4491/6894									lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12	c.(4489-4491)CCA>CCG			hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF10	WNK lysine deficient protein kinase 2		G:0		ENSP00000297954	G:0	20/30	7.43E-05							0.000682	rs556009011,COSM2732318,COSM2732317,COSM3413831,COSM3413832	20/30	common_variant		ENST00000297954	Transcript		G:0.0002	intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	ENSG00000165238	g.chr9:96051416A>G	14542			LOW								--	--	1																																		WNK2_uc011lud.1_Silent_p.P1460P|WNK2_uc004atj.2_Silent_p.P1460P|WNK2_uc004atk.2_Silent_p.P1097P|WNK2_uc004atl.1_Silent_p.P55P	0,1,1,1,1	1			p.P1497P	NM_006648	NP_006639	G:0.001		0,1,1,1,1	WNK2_HUMAN	WNK2	HGNC	Q9Y3S1	WNK2_HUMAN					20	4491	+			UPI0000236D76	1497					SNV	WNK2,synonymous_variant,p.=,ENST00000432730,;WNK2,synonymous_variant,p.=,ENST00000297954,NM_001282394.1;WNK2,synonymous_variant,p.=,ENST00000349097,;WNK2,synonymous_variant,p.=,ENST00000395477,NM_006648.3;WNK2,synonymous_variant,p.=,ENST00000411624,;WNK2,synonymous_variant,p.=,ENST00000427277,;WNK2,synonymous_variant,p.=,ENST00000448251,;WNK2,5_prime_UTR_variant,,ENST00000356055,;WNK2,3_prime_UTR_variant,,ENST00000395475,;WNK2,upstream_gene_variant,,ENST00000453718,;WNK2,upstream_gene_variant,,ENST00000474009,;WNK2,upstream_gene_variant,,ENST00000479696,;	uc004ati.1	c.4491A>G	4491/7138	3	3			c.4491A>G						9	SNP	c.(4489-4491)CCA>CCG	52	52			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12	Broad	WNK lysine deficient protein kinase 2			96051416		0.692	ENSG00000165238	17122	g.chr9:96051416A>G	intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			1420			1420	41.707076	KEEP	5	7	-1	2	6	5	7	-1	42.615704	2	6	0.75	1	0	0	0	0	0	0	1	0	--	--		0	G			WNK2_uc011lud.1_Silent_p.P1460P|WNK2_uc004atj.2_Silent_p.P1460P|WNK2_uc004atk.2_Silent_p.P1097P|WNK2_uc004atl.1_Silent_p.P55P	127	GBM-12-3652-TP	p.P1497P	A	CTCCAGCTCCAGAGGCTGCCT	NM_006648	NP_006639	96051416	Q9Y3S1	WNK2_HUMAN	0			20	4491	+	G	G			Silent	1497						
WNK2	65268	broad.mit.edu	GRCh37	9	96080326	96080326	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T			TCGA-06-0171-01	TCGA-06-0171-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297954.4:c.*17C>T			ENST00000297954	NM_001282394.1			0	T:0.0006	T:0	1	T:0		T		uc011lud.1	protein_coding	YES				-/6894								p.T2215fs*31(1)	lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12	c.(6643-6645)CGC>CGT				WNK lysine deficient protein kinase 2		T:0.001	T:0	ENSP00000297954	T:0	30/30	1.71E-05			0.000236					rs372704041,COSM3413839	30/30	.		ENST00000297954	Transcript		T:0.0002	intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	ENSG00000165238	g.chr9:96080326C>T	14542			MODIFIER								--	--	1																																		WNK2_uc004atj.2_Intron|WNK2_uc004atk.2_3'UTR	0,1	1			p.R2215R	NM_006648	NP_006639	T:0		0,1	WNK2_HUMAN	WNK2	HGNC	Q9Y3S1	WNK2_HUMAN					29	6645	+			UPI0000236D76	Error:Variant_position_missing_in_Q9Y3S1_after_alignment					SNV	WNK2,synonymous_variant,p.=,ENST00000432730,;WNK2,synonymous_variant,p.=,ENST00000427277,;WNK2,3_prime_UTR_variant,,ENST00000297954,NM_001282394.1;WNK2,3_prime_UTR_variant,,ENST00000411624,;WNK2,intron_variant,,ENST00000349097,;WNK2,intron_variant,,ENST00000395477,NM_006648.3;WNK2,intron_variant,,ENST00000356055,;WNK2,intron_variant,,ENST00000395475,;WNK2,intron_variant,,ENST00000448251,;C9orf129,downstream_gene_variant,,ENST00000375419,NM_001098808.1;WNK2,intron_variant,,ENST00000471076,;WNK2,intron_variant,,ENST00000467401,;	uc011lud.1	c.6645C>T	6911/7138	1	1			c.6645C>T						9	SNP	c.(6643-6645)CGC>CGT	5	5		p.T2215fs*31(1)	lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12	Broad	WNK lysine deficient protein kinase 2			96080326		0.582	ENSG00000165238	17122	g.chr9:96080326C>T	intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			1420			1420	90.152016	KEEP	17	22	-1	42	47	17	22	-1	93.784366	42	47	0.305556	1	0	0	0	0	0	0	1	0	--	--		0	T			WNK2_uc004atj.2_Intron|WNK2_uc004atk.2_3'UTR	35	GBM-06-0171-TP	p.R2215R	C	GTGGTCCACGCGCCGTCTCCA	NM_006648	NP_006639	96080326	Q9Y3S1	WNK2_HUMAN	0			29	6645	+	T	T			Silent	Error:Variant_position_missing_in_Q9Y3S1_after_alignment						
WNK3	65267	broad.mit.edu	GRCh37	X	54276526	54276526	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-5410-01	TCGA-06-5410-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354646.2:c.2614C>T	p.Arg872Ter	p.R872*	ENST00000354646	NM_020922.4	872	Cga/Tga	0			1			A	R/*	uc004dtd.1	protein_coding	YES	CCDS14357.1			2614/5403									lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11	c.(2614-2616)CGA>TGA			hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF47	WNK lysine deficient protein kinase 3 isoform 2				ENSP00000346667		16/24									COSM3406489	16/24	.		ENST00000354646	Transcript			intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	ENSG00000196632	g.chrX:54276526G>A	14543			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,X,54276526,G,A&fts=all	R872*	--	--	1																																		WNK3_uc004dtc.1_Nonsense_Mutation_p.R872*	1	1			p.R872*	NM_001002838	NP_001002838			1	WNK3_HUMAN	WNK3	HGNC	Q9BYP7	WNK3_HUMAN			B1AQN8_HUMAN		16	3053	-			UPI00001AF003	872					SNV	WNK3,stop_gained,p.Arg872Ter,ENST00000354646,NM_020922.4;WNK3,stop_gained,p.Arg872Ter,ENST00000375169,NM_001002838.3;WNK3,stop_gained,p.Arg872Ter,ENST00000375159,;	uc004dtd.1	c.2614C>T	3053/11341	5	1			c.2614C>T						23	SNP	c.(2614-2616)CGA>TGA	52	52			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11	Broad	WNK lysine deficient protein kinase 3 isoform 2			54276526		0.423	ENSG00000196632	17123	g.chrX:54276526G>A	intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			290			290	3.808478	KEEP	2	3	-1	14	10	2	3	-1	7.594536	14	10	0.115385	1	0	0	0	0	0	1	0	0	--	--		0	A			WNK3_uc004dtc.1_Nonsense_Mutation_p.R872*	93	GBM-06-5410-TP	p.R872*	G	ATACAGAATCGCCACCGACCA	NM_001002838	NP_001002838	54276526	Q9BYP7	WNK3_HUMAN	0			16	3053	-	A	A			Nonsense_Mutation	872						
WNK3	0	broad.mit.edu	GRCh37	X	54319681	54319681	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-26-5139-01	TCGA-26-5139-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354646.2:c.1773A>G	p.Ser591=	p.S591=	ENST00000354646	NM_020922.4	591	tcA/tcG	0			1			C	S	uc004dtd.1	protein_coding	YES	CCDS14357.1			1773/5403									lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11	c.(1771-1773)TCA>TCG			hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF47	WNK lysine deficient protein kinase 3 isoform 2				ENSP00000346667		24-Sep									COSM2157197	24-Sep	.		ENST00000354646	Transcript			intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	ENSG00000196632	g.chrX:54319681T>C	14543			LOW								--	--	1																																		WNK3_uc004dtc.1_Silent_p.S591S	1	1			p.S591S	NM_001002838	NP_001002838			1	WNK3_HUMAN	WNK3	HGNC	Q9BYP7	WNK3_HUMAN			B1AQN8_HUMAN		9	2212	-			UPI00001AF003	591					SNV	WNK3,synonymous_variant,p.=,ENST00000354646,NM_020922.4;WNK3,synonymous_variant,p.=,ENST00000375169,NM_001002838.3;WNK3,synonymous_variant,p.=,ENST00000375159,;	uc004dtd.1	c.1773A>G	2212/11341	3	3			c.1773A>G						23	SNP	c.(1771-1773)TCA>TCG	3	3			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11	Broad	WNK lysine deficient protein kinase 3 isoform 2			54319681		0.398	ENSG00000196632	17123	g.chrX:54319681T>C	intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			290			290	181.346392	KEEP	27	37	-1	57	66	27	37	-1	184.816238	57	66	0.345455	1	0	0	0	0	0	0	1	0	--	--		0	C			WNK3_uc004dtc.1_Silent_p.S591S	186	GBM-26-5139-TP	p.S591S	T	TCGTTTGATTTGAGGAATAGG	NM_001002838	NP_001002838	54319681	Q9BYP7	WNK3_HUMAN	0			9	2212	-	C	C			Silent	591						
WNK3	0	broad.mit.edu	GRCh37	X	54275317	54275317	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354646.2:c.3464G>T	p.Cys1155Phe	p.C1155F	ENST00000354646	NM_020922.4	1155	tGt/tTt	0			1			A	C/F	uc004dtd.1	protein_coding	YES	CCDS14357.1			3464/5403									lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11	c.(3463-3465)TGT>TTT			hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF47	WNK lysine deficient protein kinase 3 isoform 2				ENSP00000346667		17/24									COSM3406488	17/24	.		ENST00000354646	Transcript			intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	ENSG00000196632	g.chrX:54275317C>A	14543			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=WNK3_HUMAN&rb=830&re=1217&var=C1155F	NA	getma.org/?cm=var&var=hg19,X,54275317,C,A&fts=all	C1155F	--	--	1																																		WNK3_uc004dtc.1_Missense_Mutation_p.C1155F	1	1		benign(0.137)	p.C1155F	NM_001002838	NP_001002838		tolerated_low_confidence(0.09)	1	WNK3_HUMAN	WNK3	HGNC	Q9BYP7	WNK3_HUMAN			B1AQN8_HUMAN		17	3903	-			UPI00001AF003	1155					SNV	WNK3,missense_variant,p.Cys1155Phe,ENST00000354646,NM_020922.4;WNK3,missense_variant,p.Cys1155Phe,ENST00000375169,NM_001002838.3;WNK3,missense_variant,p.Cys1155Phe,ENST00000375159,;	uc004dtd.1	c.3464G>T	3903/11341	1	1			c.3464G>T						23	SNP	c.(3463-3465)TGT>TTT	61	61			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11	Broad	WNK lysine deficient protein kinase 3 isoform 2			54275317		0.458	ENSG00000196632	17123	g.chrX:54275317C>A	intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			290			290	-35.033021	KEEP	2	1	0.333333333	79	94	2	1	0.333333333	7.829558	79	94	0.018293	1	0	0	0	0	1	0	0	0	--	--		0	A			WNK3_uc004dtc.1_Missense_Mutation_p.C1155F	246	GBM-32-4211-TP	p.C1155F	C	TGTCACTGGACAGGAGAGGGT	NM_001002838	NP_001002838	54275317	Q9BYP7	WNK3_HUMAN	0			17	3903	-	A	A			Missense_Mutation	1155						
WNK4	65266	broad.mit.edu	GRCh37	17	40945618	40945618	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000246914.5:c.2166C>T	p.Asn722=	p.N722=	ENST00000246914	NM_032387.4	722	aaC/aaT	0			1			T	N	uc002ibj.2	protein_coding	YES	CCDS11439.1			2166/3732									ovary(3)|skin(3)|stomach(1)	7	c.(2164-2166)AAC>AAT			hmmpanther:PTHR13902:SF52,hmmpanther:PTHR13902	WNK lysine deficient protein kinase 4				ENSP00000246914		19-Dec									COSM2153336,COSM2153335	19-Dec	.		ENST00000246914	Transcript	1		intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	ENSG00000126562	g.chr17:40945618C>T	14544			LOW								--	--	1																																		WNK4_uc010wgx.1_Silent_p.N386N|WNK4_uc002ibk.1_Silent_p.N494N|WNK4_uc010wgy.1_Silent_p.N66N	1,1	1			p.N722N	NM_032387	NP_115763			1,1	WNK4_HUMAN	WNK4	HGNC	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	B0LPI0_HUMAN		12	2187	+		Breast(137;0.000143)	UPI000006FC0F	722					SNV	WNK4,synonymous_variant,p.=,ENST00000246914,NM_032387.4;COA3,downstream_gene_variant,,ENST00000328434,NM_001040431.2;WNK4,upstream_gene_variant,,ENST00000587745,;WNK4,3_prime_UTR_variant,,ENST00000591448,;WNK4,non_coding_transcript_exon_variant,,ENST00000592072,;COA3,downstream_gene_variant,,ENST00000586680,;	uc002ibj.2	c.2166C>T	2187/4001	2	2			c.2166C>T						17	SNP	c.(2164-2166)AAC>AAT	36	36			ovary(3)|skin(3)|stomach(1)	7	Broad	WNK lysine deficient protein kinase 4			40945618		0.488	ENSG00000126562	17124	g.chr17:40945618C>T	intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	Esophageal Squamous(6;201 374 4964 23855 42828)		263	Esophageal Squamous(6;201 374 4964 23855 42828)		263	48.162261	KEEP	13	10	-1	32	34	13	10	-1	52.883424	32	34	0.246914	1	0	0	0	0	0	0	1	0	--	--		0	T			WNK4_uc010wgx.1_Silent_p.N386N|WNK4_uc002ibk.1_Silent_p.N494N|WNK4_uc010wgy.1_Silent_p.N66N	100	GBM-06-5418-TP	p.N722N	C	AGGTATATAACGAGTTCATTC	NM_032387	NP_115763	40945618	Q96J92	WNK4_HUMAN	0		BRCA - Breast invasive adenocarcinoma(366;0.0749)	12	2187	+	T	T		Breast(137;0.000143)	Silent	722						
WNT1	0	broad.mit.edu	GRCh37	12	49374347	49374348	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-06-6695-01	TCGA-06-6695-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000293549.3:c.506dupG	p.Cys170LeufsTer6	p.C170Lfs*6	ENST00000293549	NM_005430.3	167	tgg/tGgg	0			1			G	W/WX	uc001rsu.2	protein_coding	YES	CCDS8776.1			499-500/1113									kidney(1)	1	c.(499-501)TGGfs			Pfam_domain:PF00110,Prints_domain:PR01349,hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF80,SMART_domains:SM00097	wingless-type MMTV integration site family,				ENSP00000293549		4-Mar	0.000207	0.000151	0.000234			0.000303	0.00151	0.000278	rs779969402	4-Mar	.		ENST00000293549	Transcript	1		brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding	ENSG00000125084	g.chr12:49374347_49374348insG	12774	7		HIGH								--	--	1																																				1			p.W167fs	NM_005430	NP_005421				WNT1_HUMAN	WNT1	HGNC	P04628	WNT1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.244)			3	697_698	+			UPI0000051043	167					insertion	WNT1,frameshift_variant,p.Cys170LeufsTer6,ENST00000293549,NM_005430.3;RNU6-940P,downstream_gene_variant,,ENST00000363433,;	uc001rsu.2	c.499_500insG	535-536/1185	5	5			c.499_500insG						12	INS	c.(499-501)TGGfs	10	10			kidney(1)	1	Broad	wingless-type MMTV integration site family,			49374348		0.554	ENSG00000125084	17125	g.chr12:49374347_49374348insG	brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding		p.W167fs(2313287-Tumor)	31		p.W167fs(2313287-Tumor)	31														0.36	1	0	0	1	1	0	0	0	0	--	--		0	G				110	GBM-06-6695-TP	p.W167fs	-	cgACTGGCACTGGGGGGGCTGC	NM_005430	NP_005421	49374347	P04628	WNT1_HUMAN	0		BRCA - Breast invasive adenocarcinoma(357;0.244)	3	697_698	+	G	G			Frame_Shift_Ins	167						
WNT10A	0	broad.mit.edu	GRCh37	2	219745829	219745829	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T			TCGA-27-2524-01	TCGA-27-2524-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258411.3:c.112A>T	p.Arg38Trp	p.R38W	ENST00000258411	NM_025216.2	38	Agg/Tgg	0			1			T	R/W	uc002vjd.1	protein_coding	YES	CCDS2426.1			112/1254									lung(1)|skin(1)	2	c.(112-114)AGG>TGG			Transmembrane_helices:TMhelix,hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF89	wingless-type MMTV integration site family,				ENSP00000258411		4-Jan	1.67E-05					9.39E-05			rs762998852,COSM3407580	4-Jan	.		ENST00000258411	Transcript	1		anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	ENSG00000135925	g.chr2:219745829A>T	13829			MODERATE		1.65	low	getma.org/?cm=msa&ty=f&p=WN10A_HUMAN&rb=1&re=59&var=R38W	NA	getma.org/?cm=var&var=hg19,2,219745829,A,T&fts=all	R38W	--	--	1																																			0,1	1		possibly_damaging(0.841)	p.R38W	NM_025216	NP_079492		deleterious(0.02)	0,1	WN10A_HUMAN	WNT10A	HGNC	Q9GZT5	WN10A_HUMAN		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Q9BTP0_HUMAN,Q05BQ6_HUMAN		1	575	+		Renal(207;0.0474)	UPI0000032F2A	38					SNV	WNT10A,missense_variant,p.Arg38Trp,ENST00000258411,NM_025216.2;WNT10A,upstream_gene_variant,,ENST00000458582,;WNT10A,upstream_gene_variant,,ENST00000483911,;	uc002vjd.1	c.112A>T	745/2547	2	2			c.112A>T						2	SNP	c.(112-114)AGG>TGG	47	47			lung(1)|skin(1)	2	Broad	wingless-type MMTV integration site family,			219745829		0.687	ENSG00000135925	17126	g.chr2:219745829A>T	anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity							9.423086	KEEP	0	3	-1	0	6	0	3	-1	9.532815	0	6	0.375	1	0	0	0	0	1	0	0	0	--	--		0	T				202	GBM-27-2524-TP	p.R38W	A	TGCCATGCCCAGGTGAGCCCT	NM_025216	NP_079492	219745829	Q9GZT5	WN10A_HUMAN	0		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	575	+	T	T		Renal(207;0.0474)	Missense_Mutation	38						
WNT10A	0	broad.mit.edu	GRCh37	2	219746954	219746954	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6282-01	TCGA-76-6282-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000258411.3:c.185T>C	p.Leu62Pro	p.L62P	ENST00000258411	NM_025216.2	62	cTa/cCa	0			1			C	L/P	uc002vjd.1	protein_coding	YES	CCDS2426.1			185/1254									lung(1)|skin(1)	2	c.(184-186)CTA>CCA			hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF89,Pfam_domain:PF00110	wingless-type MMTV integration site family,				ENSP00000258411		4-Feb									COSM3407581	4-Feb	.		ENST00000258411	Transcript	1		anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	ENSG00000135925	g.chr2:219746954T>C	13829			MODERATE		1.89	low	getma.org/?cm=msa&ty=f&p=WN10A_HUMAN&rb=60&re=417&var=L62P	NA	getma.org/?cm=var&var=hg19,2,219746954,T,C&fts=all	L62P	--	--	1																																			1	1		probably_damaging(0.969)	p.L62P	NM_025216	NP_079492		tolerated(0.11)	1	WN10A_HUMAN	WNT10A	HGNC	Q9GZT5	WN10A_HUMAN		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Q9BTP0_HUMAN,Q05BQ6_HUMAN		2	648	+		Renal(207;0.0474)	UPI0000032F2A	62					SNV	WNT10A,missense_variant,p.Leu62Pro,ENST00000258411,NM_025216.2;WNT10A,missense_variant,p.Leu25Pro,ENST00000458582,;WNT10A,upstream_gene_variant,,ENST00000483911,;	uc002vjd.1	c.185T>C	818/2547	4	4			c.185T>C						2	SNP	c.(184-186)CTA>CCA	45	45			lung(1)|skin(1)	2	Broad	wingless-type MMTV integration site family,			219746954		0.612	ENSG00000135925	17126	g.chr2:219746954T>C	anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity							-3.713288	KEEP	1	2	-1	25	32	1	2	-1	6.410005	25	32	0.06	1	0	0	0	0	1	0	0	0	--	--		0	C				278	GBM-76-6282-TP	p.L62P	T	ACAGTGTGCCTAACATTGCCA	NM_025216	NP_079492	219746954	Q9GZT5	WN10A_HUMAN	0		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	648	+	C	C		Renal(207;0.0474)	Missense_Mutation	62						
WNT10B	0	broad.mit.edu	GRCh37	12	49361974	49361974	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-19-2625-01	TCGA-19-2625-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301061.4:c.466C>A	p.Arg156=	p.R156=	ENST00000301061	NM_003394.3	156	Cgg/Agg	0			1			T	R	uc001rss.2	protein_coding	YES	CCDS8775.1			466/1170								p.R156Q(1)	skin(4)|lung(3)	7	c.(466-468)CGG>AGG			Pfam_domain:PF00110,hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF76,Low_complexity_(Seg):seg,SMART_domains:SM00097	wingless-type MMTV integration site family,				ENSP00000301061		5-Apr									COSM3398761	5-Apr	.		ENST00000301061	Transcript	1		axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	ENSG00000169884	g.chr12:49361974G>T	12775			LOW								--	--	1																																		WNT10B_uc001rst.2_Silent_p.R156R	1	1			p.R156R	NM_003394	NP_003385			1	WN10B_HUMAN	WNT10B	HGNC	O00744	WN10B_HUMAN			C9JCI2_HUMAN		4	812	-			UPI0000138F21	156					SNV	WNT10B,synonymous_variant,p.=,ENST00000301061,NM_003394.3;WNT10B,synonymous_variant,p.=,ENST00000407467,;WNT10B,intron_variant,,ENST00000403957,;WNT10B,downstream_gene_variant,,ENST00000413630,;WNT10B,downstream_gene_variant,,ENST00000420388,;WNT10B,downstream_gene_variant,,ENST00000475740,;	uc001rss.2	c.466C>A	815/2274	2	2			c.466C>A						12	SNP	c.(466-468)CGG>AGG	30	30		p.R156Q(1)	skin(4)|lung(3)	7	Broad	wingless-type MMTV integration site family,			49361974		0.532	ENSG00000169884	17127	g.chr12:49361974G>T	axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity							25.901096	KEEP	8	6	0.571428571	22	21	8	6	0.571428571	30.097825	22	21	0.207547	1	0	0	0	0	0	0	1	0	--	--		0	T			WNT10B_uc001rst.2_Silent_p.R156R	165	GBM-19-2625-TP	p.R156R	G	GCCCTCAGCCGATCCTGCTCA	NM_003394	NP_003385	49361974	O00744	WN10B_HUMAN	0			4	812	-	T	T			Silent	156						
WNT2	7472	broad.mit.edu	GRCh37	7	116960624	116960624	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0876-01	TCGA-06-0876-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265441.3:c.307C>T	p.Arg103Ter	p.R103*	ENST00000265441	NM_003391.2	103	Cga/Tga	0			1			A	R/*	uc003viz.2	protein_coding	YES	CCDS5771.1			307/1083									breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7	c.(307-309)CGA>TGA			hmmpanther:PTHR12027:SF86,hmmpanther:PTHR12027,Pfam_domain:PF00110,SMART_domains:SM00097	wingless-type MMTV integration site family				ENSP00000265441		5-Feb									COSM3411514	5-Feb	.		ENST00000265441	Transcript			atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	ENSG00000105989	g.chr7:116960624G>A	12780			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,116960624,G,A&fts=all	R103*	--	--	1																																		WNT2_uc003vja.2_Missense_Mutation_p.P28L	1	1			p.R103*	NM_003391	NP_003382			1	WNT2_HUMAN	WNT2	HGNC	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	A4D0V1_HUMAN		2	607	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		UPI0000051044	103					SNV	WNT2,stop_gained,p.Arg103Ter,ENST00000265441,NM_003391.2;WNT2,stop_gained,p.Arg103Ter,ENST00000491214,;AC002465.2,intron_variant,,ENST00000436097,;WNT2,stop_gained,p.Arg103Ter,ENST00000449446,;WNT2,non_coding_transcript_exon_variant,,ENST00000461427,;	uc003viz.2	c.307C>T	607/2907	5	2			c.307C>T						7	SNP	c.(307-309)CGA>TGA	29	29			breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7	Broad	wingless-type MMTV integration site family			116960624		0.537	ENSG00000105989	17130	g.chr7:116960624G>A	atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity							18.311742	KEEP	8	3	-1	39	18	8	3	-1	25.528404	39	18	0.15625	1	0	0	0	0	0	1	0	0	--	--		0	A			WNT2_uc003vja.2_Missense_Mutation_p.P28L	72	GBM-06-0876-TP	p.R103*	G	GACTTACTTCGGAGTAGGACC	NM_003391	NP_003382	116960624	P09544	WNT2_HUMAN	0	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	2	607	-	A	A	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		Nonsense_Mutation	103						
WNT2	7472	broad.mit.edu	GRCh37	7	116960744	116960744	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01	TCGA-06-5408-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265441.3:c.187C>T	p.Arg63Cys	p.R63C	ENST00000265441	NM_003391.2	63	Cgt/Tgt	0	A:0	A:0	1	A:0		A	R/C	uc003viz.2	protein_coding	YES	CCDS5771.1			187/1083									breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7	c.(187-189)CGT>TGT			hmmpanther:PTHR12027:SF86,hmmpanther:PTHR12027,Pfam_domain:PF00110,SMART_domains:SM00097	wingless-type MMTV integration site family		A:0.001	A:0.0001	ENSP00000265441	A:0	5-Feb	5.77E-05		0.00018	0.000586					rs376068978,COSM3257173	5-Feb	common_variant		ENST00000265441	Transcript		A:0.0002	atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	ENSG00000105989	g.chr7:116960744G>A	12780			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=WNT2_HUMAN&rb=40&re=349&var=R63C	NA	getma.org/?cm=var&var=hg19,7,116960744,G,A&fts=all	R63C	--	--	1																																		WNT2_uc003vja.2_5'UTR	0,1	1		possibly_damaging(0.828)	p.R63C	NM_003391	NP_003382	A:0	tolerated(0.07)	0,1	WNT2_HUMAN	WNT2	HGNC	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	A4D0V1_HUMAN		2	487	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		UPI0000051044	63					SNV	WNT2,missense_variant,p.Arg63Cys,ENST00000265441,NM_003391.2;WNT2,missense_variant,p.Arg63Cys,ENST00000491214,;AC002465.2,intron_variant,,ENST00000436097,;WNT2,missense_variant,p.Arg63Cys,ENST00000449446,;WNT2,non_coding_transcript_exon_variant,,ENST00000461427,;	uc003viz.2	c.187C>T	487/2907	1	1			c.187C>T						7	SNP	c.(187-189)CGT>TGT	58	58			breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7	Broad	wingless-type MMTV integration site family			116960744		0.607	ENSG00000105989	17130	g.chr7:116960744G>A	atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity							29.977872	KEEP	8	5	-1	19	17	8	5	-1	32.530749	19	17	0.255319	1	0	0	0	0	1	0	0	0	--	--		0	A			WNT2_uc003vja.2_5'UTR	92	GBM-06-5408-TP	p.R63C	G	CTAATGGCACGCATCACATCT	NM_003391	NP_003382	116960744	P09544	WNT2_HUMAN	0	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	2	487	-	A	A	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		Missense_Mutation	63						
WNT2	0	broad.mit.edu	GRCh37	7	116960726	116960726	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265441.3:c.205G>A	p.Val69Met	p.V69M	ENST00000265441	NM_003391.2	69	Gtg/Atg	0	T:0		1			T	V/M	uc003viz.2	protein_coding	YES	CCDS5771.1			205/1083									breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7	c.(205-207)GTG>ATG			hmmpanther:PTHR12027:SF86,hmmpanther:PTHR12027,Pfam_domain:PF00110,SMART_domains:SM00097	wingless-type MMTV integration site family			T:0.0001	ENSP00000265441		5-Feb	1.65E-05					3.10E-05			rs371599061,COSM3257172	5-Feb	.		ENST00000265441	Transcript			atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	ENSG00000105989	g.chr7:116960726C>T	12780			MODERATE		1.28	low	getma.org/?cm=msa&ty=f&p=WNT2_HUMAN&rb=40&re=349&var=V69M	getma.org/pdb.php?prot=WNT2_HUMAN&from=40&to=349&var=V69M	getma.org/?cm=var&var=hg19,7,116960726,C,T&fts=all	V69M	--	--	1																																		WNT2_uc003vja.2_Translation_Start_Site	0,1	1		benign(0.025)	p.V69M	NM_003391	NP_003382		deleterious(0.04)	0,1	WNT2_HUMAN	WNT2	HGNC	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	A4D0V1_HUMAN		2	505	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		UPI0000051044	69					SNV	WNT2,missense_variant,p.Val69Met,ENST00000265441,NM_003391.2;WNT2,missense_variant,p.Val69Met,ENST00000491214,;AC002465.2,intron_variant,,ENST00000436097,;WNT2,missense_variant,p.Val69Met,ENST00000449446,;WNT2,non_coding_transcript_exon_variant,,ENST00000461427,;	uc003viz.2	c.205G>A	505/2907	1	1			c.205G>A						7	SNP	c.(205-207)GTG>ATG	15	15			breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7	Broad	wingless-type MMTV integration site family			116960726		0.602	ENSG00000105989	17130	g.chr7:116960726C>T	atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity							41.079204	KEEP	8	8	-1	31	15	8	8	-1	42.937095	31	15	0.301887	1	0	0	0	0	1	0	0	0	--	--		0	T			WNT2_uc003vja.2_Translation_Start_Site	122	GBM-12-0692-TP	p.V69M	C	CACTCGGCCACGCCCTGGCTA	NM_003391	NP_003382	116960726	P09544	WNT2_HUMAN	0	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	2	505	-	T	T	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		Missense_Mutation	69						
WNT2	0	broad.mit.edu	GRCh37	7	116960680	116960680	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01	TCGA-12-3652-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265441.3:c.251G>A	p.Arg84His	p.R84H	ENST00000265441	NM_003391.2	84	cGc/cAc	0			1			T	R/H	uc003viz.2	protein_coding	YES	CCDS5771.1			251/1083									breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7	c.(250-252)CGC>CAC			hmmpanther:PTHR12027:SF86,hmmpanther:PTHR12027,Pfam_domain:PF00110,SMART_domains:SM00097	wingless-type MMTV integration site family				ENSP00000265441		5-Feb	1.65E-05					1.57E-05		6.65E-05	rs761310626,COSM3257170	5-Feb	.		ENST00000265441	Transcript			atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	ENSG00000105989	g.chr7:116960680C>T	12780			MODERATE		3.55	high	getma.org/?cm=msa&ty=f&p=WNT2_HUMAN&rb=40&re=349&var=R84H	getma.org/pdb.php?prot=WNT2_HUMAN&from=40&to=349&var=R84H	getma.org/?cm=var&var=hg19,7,116960680,C,T&fts=all	R84H	--	--	1																																		WNT2_uc003vja.2_Silent_p.P9P	0,1	1		probably_damaging(0.938)	p.R84H	NM_003391	NP_003382		deleterious(0)	0,1	WNT2_HUMAN	WNT2	HGNC	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	A4D0V1_HUMAN		2	551	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		UPI0000051044	84					SNV	WNT2,missense_variant,p.Arg84His,ENST00000265441,NM_003391.2;WNT2,missense_variant,p.Arg84His,ENST00000491214,;AC002465.2,intron_variant,,ENST00000436097,;WNT2,missense_variant,p.Arg84His,ENST00000449446,;WNT2,non_coding_transcript_exon_variant,,ENST00000461427,;	uc003viz.2	c.251G>A	551/2907	1	1			c.251G>A						7	SNP	c.(250-252)CGC>CAC	14	14			breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7	Broad	wingless-type MMTV integration site family			116960680		0.597	ENSG00000105989	17130	g.chr7:116960680C>T	atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity							49.999625	KEEP	12	5	-1	13	7	12	5	-1	50.00658	13	7	0.516129	1	0	0	0	0	1	0	0	0	--	--		0	T			WNT2_uc003vja.2_Silent_p.P9P	127	GBM-12-3652-TP	p.R84H	C	GCAATTCCAGCGGTGCTGGCG	NM_003391	NP_003382	116960680	P09544	WNT2_HUMAN	0	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	2	551	-	T	T	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		Missense_Mutation	84						
WNT2	7472		GRCh37	7	116955387	116955387	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000265441.3:c.326C>A	p.Ala109Asp	p.A109D	ENST00000265441	NM_003391.2	109	gCc/gAc	0																																																																																																																																																																																																																																												
WNT2B	7482	broad.mit.edu	GRCh37	1	113059824	113059825	+	frameshift_variant	Frame_Shift_Del	DEL	CT	CT	-			TCGA-02-2485-01	TCGA-02-2485-01	CT	CT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369684.4:c.766_767del	p.Ser256ArgfsTer7	p.S256Rfs*7	ENST00000369684	NM_024494.2	255	CTc/c	0			1			-	L/X	uc001ecb.2	protein_coding	YES	CCDS847.1			763-764/1176									ovary(2)|breast(2)|skin(1)	5	c.(763-765)CTCfs			Pfam_domain:PF00110,hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF93,SMART_domains:SM00097	wingless-type MMTV integration site family,				ENSP00000358698		5-Apr										5-Apr	.		ENST00000369684	Transcript			chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity	ENSG00000134245	g.chr1:113059824_113059825delCT	12781	3		HIGH								--	--	1																																		WNT2B_uc001eca.2_Frame_Shift_Del_p.L236fs|WNT2B_uc009wgg.2_Frame_Shift_Del_p.L163fs		1			p.L255fs	NM_024494	NP_078613				WNT2B_HUMAN	WNT2B	HGNC	Q93097	WNT2B_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	Q5TEH9_HUMAN,Q5TEH8_HUMAN		4	1278_1279	+	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)	UPI0000138F23	255					deletion	WNT2B,frameshift_variant,p.Ser237ArgfsTer7,ENST00000369686,NM_004185.3;WNT2B,frameshift_variant,p.Ser256ArgfsTer7,ENST00000369684,NM_024494.2;WNT2B,frameshift_variant,p.Ser164ArgfsTer7,ENST00000256640,;RP4-671G15.2,downstream_gene_variant,,ENST00000608357,;WNT2B,downstream_gene_variant,,ENST00000478360,;	uc001ecb.2	c.763_764delCT	1248-1249/3818	5	5			c.763_764delCT						1	DEL	c.(763-765)CTCfs	59	59			ovary(2)|breast(2)|skin(1)	5	Broad	wingless-type MMTV integration site family,			113059825		0.624	ENSG00000134245	17131	g.chr1:113059824_113059825delCT	chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity																				0.45	1	1	0	1	0	0	0	0	0	--	--		0	-			WNT2B_uc001eca.2_Frame_Shift_Del_p.L236fs|WNT2B_uc009wgg.2_Frame_Shift_Del_p.L163fs	7	GBM-02-2485-TP	p.L255fs	CT	CTGGCGTGCACTCTCAGATTTC	NM_024494	NP_078613	113059824	Q93097	WNT2B_HUMAN	0		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1278_1279	+	-	-	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)	Frame_Shift_Del	255						
WNT3	7473	broad.mit.edu	GRCh37	17	44851175	44851175	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-02-2485-01	TCGA-02-2485-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000225512.5:c.181A>G	p.Asn61Asp	p.N61D	ENST00000225512	NM_030753.4	61	Aat/Gat	0			1			C	N/D	uc002ikv.2	protein_coding	YES	CCDS11505.1			181/1068									lung(2)	2	c.(181-183)AAT>GAT			hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF82,Pfam_domain:PF00110,SMART_domains:SM00097	wingless-type MMTV integration site family,				ENSP00000225512		5-Feb									COSM3402953	5-Feb	.		ENST00000225512	Transcript	1		canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity	ENSG00000108379	g.chr17:44851175T>C	12782			MODERATE		0.84	low	getma.org/?cm=msa&ty=f&p=WNT3_HUMAN&rb=44&re=355&var=N61D	getma.org/pdb.php?prot=WNT3_HUMAN&from=44&to=355&var=N61D	getma.org/?cm=var&var=hg19,17,44851175,T,C&fts=all	N61D	--	--	1																																			1	1		possibly_damaging(0.665)	p.N61D	NM_030753	NP_110380		tolerated(0.06)	1	WNT3_HUMAN	WNT3	HGNC	P56703	WNT3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)				2	300	-			UPI000003143C	61					SNV	WNT3,missense_variant,p.Asn61Asp,ENST00000225512,NM_030753.4;WNT3,downstream_gene_variant,,ENST00000573788,;	uc002ikv.2	c.181A>G	344/3355	3	3			c.181A>G						17	SNP	c.(181-183)AAT>GAT	64	64			lung(2)	2	Broad	wingless-type MMTV integration site family,			44851175		0.657	ENSG00000108379	17132	g.chr17:44851175T>C	canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity							75.431347	KEEP	10	16	-1	14	22	10	16	-1	75.665224	14	22	0.433333	1	0	0	0	0	1	0	0	0	--	--		0	C				7	GBM-02-2485-TP	p.N61D	T	TCGATGTAATTGCGGCAGAAG	NM_030753	NP_110380	44851175	P56703	WNT3_HUMAN	0	BRCA - Breast invasive adenocarcinoma(9;0.0257)		2	300	-	C	C			Missense_Mutation	61						
WNT5B	0	broad.mit.edu	GRCh37	12	1749108	1749108	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-41-2572-01	TCGA-41-2572-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000310594.3:c.587T>C	p.Leu196Pro	p.L196P	ENST00000310594	NM_030775.2	196	cTc/cCc	0			1			C	L/P	uc009zdq.2	protein_coding		CCDS8510.1			587/1080									skin(1)	1	c.(586-588)CTC>CCC			Pfam_domain:PF00110,hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF87,SMART_domains:SM00097	wingless-type MMTV integration site family,				ENSP00000308887		5-Apr									COSM3398576	5-Apr	.		ENST00000310594	Transcript			angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding	ENSG00000111186	g.chr12:1749108T>C	16265			MODERATE		3.18	medium	getma.org/?cm=msa&ty=f&p=WNT5B_HUMAN&rb=47&re=359&var=L196P	getma.org/pdb.php?prot=WNT5B_HUMAN&from=47&to=359&var=L196P	getma.org/?cm=var&var=hg19,12,1749108,T,C&fts=all	L196P	--	--	1																																		WNT5B_uc001qjj.2_Missense_Mutation_p.L196P|WNT5B_uc001qjk.2_Missense_Mutation_p.L196P|WNT5B_uc001qjl.2_Missense_Mutation_p.L196P	1			benign(0.047)	p.L196P	NM_032642	NP_116031		deleterious(0.01)	1	WNT5B_HUMAN	WNT5B	HGNC	Q9H1J7	WNT5B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00109)		F5H7Q6_HUMAN,F5H364_HUMAN,F5H034_HUMAN		4	829	+	Ovarian(42;0.107)		UPI0000138F3C	196					SNV	WNT5B,missense_variant,p.Leu196Pro,ENST00000397196,NM_032642.2;WNT5B,missense_variant,p.Leu196Pro,ENST00000310594,NM_030775.2;WNT5B,missense_variant,p.Leu196Pro,ENST00000537031,;WNT5B,missense_variant,p.Leu196Pro,ENST00000543071,;WNT5B,intron_variant,,ENST00000542408,;WNT5B,downstream_gene_variant,,ENST00000545811,;WNT5B,downstream_gene_variant,,ENST00000539198,;WNT5B,upstream_gene_variant,,ENST00000545747,;	uc009zdq.2	c.587T>C	732/2184	3	3			c.587T>C						12	SNP	c.(586-588)CTC>CCC	14	14			skin(1)	1	Broad	wingless-type MMTV integration site family,			1749108		0.632	ENSG00000111186	17136	g.chr12:1749108T>C	angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding							-0.112143	KEEP	0	3	-1	29	17	0	3	-1	8.9161	29	17	0.065217	1	0	0	0	0	1	0	0	0	--	--		0	C			WNT5B_uc001qjj.2_Missense_Mutation_p.L196P|WNT5B_uc001qjk.2_Missense_Mutation_p.L196P|WNT5B_uc001qjl.2_Missense_Mutation_p.L196P	251	GBM-41-2572-TP	p.L196P	T	GGCCGGGTGCTCATGAACCTG	NM_032642	NP_116031	1749108	Q9H1J7	WNT5B_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(31;0.00109)		4	829	+	C	C	Ovarian(42;0.107)		Missense_Mutation	196						
WNT9B	0	broad.mit.edu	GRCh37	17	44949992	44949992	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01	TCGA-19-2620-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290015.2:c.187C>T	p.Arg63Trp	p.R63W	ENST00000290015	NM_003396.1	63	Cgg/Tgg	0		T:0	1	T:0.0014		T	R/W	uc002ikw.1	protein_coding	YES	CCDS11506.1			187/1074									lung(2)	2	c.(187-189)CGG>TGG			hmmpanther:PTHR12027:SF84,hmmpanther:PTHR12027,Pfam_domain:PF00110,SMART_domains:SM00097	wingless-type MMTV integration site family,		T:0		ENSP00000290015	T:0	4-Feb	4.12E-05		0.000174			4.67E-05			rs566511950,COSM2696053,COSM2696054	4-Feb	.		ENST00000290015	Transcript		T:0.0002	anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding	ENSG00000158955	g.chr17:44949992C>T	12779			MODERATE		2.805	medium	getma.org/?cm=msa&ty=f&p=WNT9B_HUMAN&rb=54&re=356&var=R63W	NA	getma.org/?cm=var&var=hg19,17,44949992,C,T&fts=all	R63W	--	--	1																																		WNT9B_uc002ikx.1_Missense_Mutation_p.R63W	0,1,1	1		benign(0.011)	p.R63W	NM_003396	NP_003387	T:0	deleterious(0)	0,1,1	WNT9B_HUMAN	WNT9B	HGNC	O14905	WNT9B_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)				2	224	+			UPI000013DFB5	63					SNV	WNT9B,missense_variant,p.Arg63Trp,ENST00000393461,;WNT9B,missense_variant,p.Arg63Trp,ENST00000290015,NM_003396.1;WNT9B,missense_variant,p.Arg69Trp,ENST00000575372,;	uc002ikw.1	c.187C>T	240/1376	1	1			c.187C>T						17	SNP	c.(187-189)CGG>TGG	1	1			lung(2)	2	Broad	wingless-type MMTV integration site family,			44949992		0.682	ENSG00000158955	17143	g.chr17:44949992C>T	anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding							77.51704	KEEP	17	18	-1	50	29	17	18	-1	80.521184	50	29	0.3125	1	0	0	0	0	1	0	0	0	--	--		0	T			WNT9B_uc002ikx.1_Missense_Mutation_p.R63W	162	GBM-19-2620-TP	p.R63W	C	GCTGTCCCGGCGGCAGAAGCA	NM_003396	NP_003387	44949992	O14905	WNT9B_HUMAN	0	BRCA - Breast invasive adenocarcinoma(9;0.0257)		2	224	+	T	T			Missense_Mutation	63						
WRAP73	0	broad.mit.edu	GRCh37	1	3548093	3548093	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0786-01	TCGA-14-0786-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000270708.7:c.1177G>A	p.Gly393Arg	p.G393R	ENST00000270708	NM_017818.3	393	Gga/Aga	0			1			T	G/R	uc001ako.2	protein_coding	YES	CCDS48.1			1177/1383										0	c.(1177-1179)GGA>AGA			hmmpanther:PTHR16220:SF0,hmmpanther:PTHR16220,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:0047732	WD repeat domain 8				ENSP00000270708		12-Nov									COSM3400711	12-Nov	.		ENST00000270708	Transcript				centrosome	protein binding	ENSG00000116213	g.chr1:3548093C>T	12759			MODERATE		2.97	medium	getma.org/?cm=msa&ty=f&p=WRP73_HUMAN&rb=252&re=451&var=G393R	NA	getma.org/?cm=var&var=hg19,1,3548093,C,T&fts=all	G393R	--	--	1																																		WDR8_uc001akn.3_Missense_Mutation_p.G393R	1	1		probably_damaging(0.935)	p.G393R	NM_017818	NP_060288		deleterious(0)	1	WRP73_HUMAN	WRAP73	HGNC	Q9P2S5	WRP73_HUMAN		Epithelial(90;4.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.16e-22)|GBM - Glioblastoma multiforme(42;1.05e-14)|Colorectal(212;1.19e-05)|BRCA - Breast invasive adenocarcinoma(365;2.67e-05)|COAD - Colon adenocarcinoma(227;5.82e-05)|Kidney(185;0.000364)|KIRC - Kidney renal clear cell carcinoma(229;0.00223)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	J3KTP2_HUMAN		11	1285	-	all_cancers(77;0.0128)|all_epithelial(69;0.00526)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	UPI0000138EDF	393			WD 6.		SNV	WRAP73,missense_variant,p.Gly393Arg,ENST00000378322,;WRAP73,missense_variant,p.Gly393Arg,ENST00000270708,NM_017818.3;TPRG1L,downstream_gene_variant,,ENST00000378344,NM_182752.3;TPRG1L,downstream_gene_variant,,ENST00000344579,;WRAP73,downstream_gene_variant,,ENST00000424367,;WRAP73,downstream_gene_variant,,ENST00000465916,;WRAP73,downstream_gene_variant,,ENST00000419924,;WRAP73,downstream_gene_variant,,ENST00000471223,;WRAP73,downstream_gene_variant,,ENST00000497940,;WRAP73,downstream_gene_variant,,ENST00000469643,;WRAP73,downstream_gene_variant,,ENST00000494884,;	uc001ako.2	c.1177G>A	1251/1665	1	1			c.1177G>A						1	SNP	c.(1177-1179)GGA>AGA	4	4				0	Broad	WD repeat domain 8			3548093		0.667	ENSG00000116213	17073	g.chr1:3548093C>T		centrosome	protein binding							24.495845	KEEP	6	7	-1	7	12	6	7	-1	24.599404	7	12	0.421053	1	0	0	0	0	1	0	0	0	--	--		0	T			WDR8_uc001akn.3_Missense_Mutation_p.G393R	134	GBM-14-0786-TP	p.G393R	C	CTGCTGCCTCCCGTGCAGATG	NM_017818	NP_060288	3548093	Q9P2S5	WRP73_HUMAN	0		Epithelial(90;4.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.16e-22)|GBM - Glioblastoma multiforme(42;1.05e-14)|Colorectal(212;1.19e-05)|BRCA - Breast invasive adenocarcinoma(365;2.67e-05)|COAD - Colon adenocarcinoma(227;5.82e-05)|Kidney(185;0.000364)|KIRC - Kidney renal clear cell carcinoma(229;0.00223)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	11	1285	-	T	T	all_cancers(77;0.0128)|all_epithelial(69;0.00526)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	Missense_Mutation	393			WD 6.			
WSB2	0	broad.mit.edu	GRCh37	12	118490112	118490113	+	splice_region_variant,intron_variant	Splice_Region	INS	-	-	A			TCGA-12-0821-01	TCGA-12-0821-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315436.3:c.182+2dupT		p.X61_splice	ENST00000315436	NM_018639.4			0			1			A		uc001twr.2	protein_coding	YES	CCDS9186.1			-/1215									ovary(1)	1	c.e2+1				WD SOCS-box protein 2				ENSP00000319474													.		ENST00000315436	Transcript			intracellular signal transduction			ENSG00000176871	g.chr12:118490112_118490113insA	19222			LOW	8-Feb							--	--	1																																		WSB2_uc010sza.1_Intron|WSB2_uc010szb.1_Splice_Site|WSB2_uc009zws.1_Splice_Site_p.F61_splice		1			p.F61_splice	NM_018639	NP_061109				WSB2_HUMAN	WSB2	HGNC	Q9NYS7	WSB2_HUMAN			B4DPV6_HUMAN,B4DFS1_HUMAN		2	280	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		UPI0000031565						insertion	WSB2,splice_region_variant,,ENST00000315436,NM_018639.4;WSB2,splice_region_variant,,ENST00000542304,;WSB2,splice_region_variant,,ENST00000441406,NM_001278557.1;WSB2,splice_region_variant,,ENST00000535496,;WSB2,splice_region_variant,,ENST00000544233,NM_001278558.1;WSB2,splice_region_variant,,ENST00000537945,;WSB2,splice_region_variant,,ENST00000536738,;WSB2,splice_region_variant,,ENST00000542726,;WSB2,splice_region_variant,,ENST00000540129,;WSB2,splice_region_variant,,ENST00000543218,;WSB2,splice_region_variant,,ENST00000536602,;	uc001twr.2	c.182_splice	-/2646	5	5			c.182_splice						12	INS	c.e2+1	53	53			ovary(1)	1	Broad	WD SOCS-box protein 2			118490113		0.55	ENSG00000176871	17149	g.chr12:118490112_118490113insA	intracellular signal transduction																						0.35	1	0	0	1	1	0	0	0	1	--	--		0	A			WSB2_uc010sza.1_Intron|WSB2_uc010szb.1_Splice_Site|WSB2_uc009zws.1_Splice_Site_p.F61_splice	123	GBM-12-0821-TP	p.F61_splice	-	CGAGAATACTTACAACTGCTCC	NM_018639	NP_061109	118490112	Q9NYS7	WSB2_HUMAN	0			2	280	-	A	A	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		Splice_Site							
WSCD1	23302	broad.mit.edu	GRCh37	17	5991317	5991317	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0875-01	TCGA-06-0875-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000574946.1:c.435C>T	p.Tyr145=	p.Y145=	ENST00000574946		145	taC/taT	0			1			T	Y	uc010cli.2	protein_coding		CCDS32538.1			435/1728										0	c.(433-435)TAC>TAT			SMART_domains:SM00321,Pfam_domain:PF01822,hmmpanther:PTHR19297:SF90,hmmpanther:PTHR19297,PROSITE_profiles:PS51212	WSC domain containing 1				ENSP00000323087		9-Mar									COSM2152050	9-Mar	.		ENST00000317744	Transcript				integral to membrane	sulfotransferase activity	ENSG00000179314	g.chr17:5991317C>T	29060			LOW								--	--	1																																		WSCD1_uc002gcn.2_Silent_p.Y145Y|WSCD1_uc002gco.2_Silent_p.Y145Y|WSCD1_uc010clj.2_Intron	1				p.Y145Y	NM_015253	NP_056068			1	WSCD1_HUMAN	WSCD1	HGNC	Q658N2	WSCD1_HUMAN			I3NI40_HUMAN,I3L3G4_HUMAN,I3L2Y9_HUMAN,I3L127_HUMAN		3	814	+			UPI0000197208	145			WSC 1.		SNV	WSCD1,synonymous_variant,p.=,ENST00000574946,;WSCD1,synonymous_variant,p.=,ENST00000317744,NM_015253.1;WSCD1,synonymous_variant,p.=,ENST00000539421,;WSCD1,synonymous_variant,p.=,ENST00000574232,;WSCD1,synonymous_variant,p.=,ENST00000573634,;WSCD1,synonymous_variant,p.=,ENST00000576083,;WSCD1,5_prime_UTR_variant,,ENST00000576947,;WSCD1,intron_variant,,ENST00000571494,;	uc010cli.2	c.435C>T	762/5819	2	2			c.435C>T						17	SNP	c.(433-435)TAC>TAT	39	39				0	Broad	WSC domain containing 1			5991317		0.537	ENSG00000179314	17150	g.chr17:5991317C>T		integral to membrane	sulfotransferase activity							29.639636	KEEP	9	17	-1	23	34	9	17	-1	34.085049	23	34	0.216667	1	0	0	0	0	0	0	1	0	--	--		0	T			WSCD1_uc002gcn.2_Silent_p.Y145Y|WSCD1_uc002gco.2_Silent_p.Y145Y|WSCD1_uc010clj.2_Intron	71	GBM-06-0875-TP	p.Y145Y	C	CAGGCACCTACATTGGATGCT	NM_015253	NP_056068	5991317	Q658N2	WSCD1_HUMAN	0			3	814	+	T	T			Silent	145			WSC 1.			
WSCD1	23302	broad.mit.edu	GRCh37	17	6023636	6023636	+	synonymous_variant	Silent	SNP	G	G	A	rs146617432		TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000574946.1:c.1383G>A	p.Pro461=	p.P461=	ENST00000574946		461	ccG/ccA	0	A:0		1			A	P	uc010cli.2	protein_coding		CCDS32538.1			1383/1728										0	c.(1381-1383)CCG>CCA			Superfamily_domains:SSF52540,Gene3D:3.40.50.300,Pfam_domain:PF00685,hmmpanther:PTHR19297:SF90,hmmpanther:PTHR19297	WSC domain containing 1			A:0.0001	ENSP00000323087		9-Sep	3.29E-05	9.65E-05	8.65E-05			3.03E-05			rs146617432,COSM982395	9-Sep	.		ENST00000317744	Transcript				integral to membrane	sulfotransferase activity	ENSG00000179314	g.chr17:6023636G>A	29060			LOW								--	--	1																																		WSCD1_uc002gcn.2_Silent_p.P461P|WSCD1_uc002gco.2_Silent_p.P461P|WSCD1_uc010clj.2_Silent_p.P152P	0,1				p.P461P	NM_015253	NP_056068			0,1	WSCD1_HUMAN	WSCD1	HGNC	Q658N2	WSCD1_HUMAN			I3NI40_HUMAN,I3L3G4_HUMAN,I3L2Y9_HUMAN,I3L127_HUMAN		9	1762	+			UPI0000197208	461					SNV	WSCD1,synonymous_variant,p.=,ENST00000574946,;WSCD1,synonymous_variant,p.=,ENST00000317744,NM_015253.1;WSCD1,synonymous_variant,p.=,ENST00000539421,;WSCD1,synonymous_variant,p.=,ENST00000574232,;WSCD1,synonymous_variant,p.=,ENST00000573634,;WSCD1,3_prime_UTR_variant,,ENST00000571494,;	uc010cli.2	c.1383G>A	1710/5819	2	2			c.1383G>A						17	SNP	c.(1381-1383)CCG>CCA	33	33				0	Broad	WSC domain containing 1			6023636		0.672	ENSG00000179314	17150	g.chr17:6023636G>A		integral to membrane	sulfotransferase activity							-60.04292	KEEP	2	5	-1	133	165	2	5	-1	8.34987	133	165	0.019011	1	0	0	0	0	0	0	1	0	--	--		0	A			WSCD1_uc002gcn.2_Silent_p.P461P|WSCD1_uc002gco.2_Silent_p.P461P|WSCD1_uc010clj.2_Silent_p.P152P	102	GBM-06-5858-TP	p.P461P	G	TAGAGTGGCCGGACTTTGTCA	NM_015253	NP_056068	6023636	Q658N2	WSCD1_HUMAN	0			9	1762	+	A	A			Silent	461						
WSCD2	9671	broad.mit.edu	GRCh37	12	108600179	108600179	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01	TCGA-06-2563-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332082.4:c.496C>T	p.Arg166Trp	p.R166W	ENST00000332082		166	Cgg/Tgg	0		T:0	1	T:0		T	R/W	uc001tms.2	protein_coding	YES	CCDS41828.1			496/1698									ovary(1)|large_intestine(1)|breast(1)	3	c.(496-498)CGG>TGG			Pfam_domain:PF01822,PROSITE_profiles:PS51212,hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF5,SMART_domains:SM00321	WSC domain containing 2		T:0		ENSP00000331933	T:0	10-Apr	3.31E-05							0.000245	rs567916978,COSM2152890,COSM3398300	10-Apr	.		ENST00000332082	Transcript		T:0.0002		integral to membrane		ENSG00000075035	g.chr12:108600179C>T	29117			MODERATE		2.575	medium	getma.org/?cm=msa&ty=f&p=WSCD2_HUMAN&rb=130&re=209&var=R166W	NA	getma.org/?cm=var&var=hg19,12,108600179,C,T&fts=all	R166W	--	--	1																																		WSCD2_uc001tmt.2_Missense_Mutation_p.R166W	0,1,1	1		probably_damaging(1)	p.R166W	NM_014653	NP_055468	T:0.001	deleterious(0.02)	0,1,1	WSCD2_HUMAN	WSCD2	HGNC	Q2TBF2	WSCD2_HUMAN			F8W030_HUMAN		3	1240	+			UPI00001C1F3A	166			WSC 1.		SNV	WSCD2,missense_variant,p.Arg166Trp,ENST00000332082,;WSCD2,missense_variant,p.Arg166Trp,ENST00000261400,;WSCD2,missense_variant,p.Arg166Trp,ENST00000547525,NM_014653.2;WSCD2,missense_variant,p.Arg166Trp,ENST00000549903,;WSCD2,missense_variant,p.Arg13Trp,ENST00000551638,;	uc001tms.2	c.496C>T	1314/4710	2	2			c.496C>T						12	SNP	c.(496-498)CGG>TGG	24	24			ovary(1)|large_intestine(1)|breast(1)	3	Broad	WSC domain containing 2			108600179		0.527	ENSG00000075035	17151	g.chr12:108600179C>T		integral to membrane								87.324958	KEEP	17	15	-1	27	38	17	15	-1	89.292563	27	38	0.340909	1	0	0	0	0	1	0	0	0	--	--		0	T			WSCD2_uc001tmt.2_Missense_Mutation_p.R166W	86	GBM-06-2563-TP	p.R166W	C	CTGTGCTGAACGGTAGGGTCC	NM_014653	NP_055468	108600179	Q2TBF2	WSCD2_HUMAN	0			3	1240	+	T	T			Missense_Mutation	166			WSC 1.			
WSCD2	0	broad.mit.edu	GRCh37	12	108603986	108603986	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01	TCGA-28-5209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332082.4:c.586G>A	p.Asp196Asn	p.D196N	ENST00000332082		196	Gac/Aac	0			1			A	D/N	uc001tms.2	protein_coding	YES	CCDS41828.1			586/1698									ovary(1)|large_intestine(1)|breast(1)	3	c.(586-588)GAC>AAC			Pfam_domain:PF01822,PROSITE_profiles:PS51212,hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF5,SMART_domains:SM00321	WSC domain containing 2				ENSP00000331933		10-May	0.000157			0.00178		6.22E-05			rs763751722,COSM3398302,COSM3398303	10-May	common_variant		ENST00000332082	Transcript				integral to membrane		ENSG00000075035	g.chr12:108603986G>A	29117			MODERATE		-1.815	neutral	getma.org/?cm=msa&ty=f&p=WSCD2_HUMAN&rb=130&re=209&var=D196N	NA	getma.org/?cm=var&var=hg19,12,108603986,G,A&fts=all	D196N	--	--	1																																		WSCD2_uc001tmt.2_Missense_Mutation_p.D196N	0,1,1	1		benign(0.004)	p.D196N	NM_014653	NP_055468		tolerated(1)	0,1,1	WSCD2_HUMAN	WSCD2	HGNC	Q2TBF2	WSCD2_HUMAN			F8W030_HUMAN		4	1330	+			UPI00001C1F3A	196			WSC 1.		SNV	WSCD2,missense_variant,p.Asp196Asn,ENST00000332082,;WSCD2,missense_variant,p.Asp196Asn,ENST00000261400,;WSCD2,missense_variant,p.Asp196Asn,ENST00000547525,NM_014653.2;WSCD2,missense_variant,p.Asp196Asn,ENST00000549903,;WSCD2,missense_variant,p.Asp43Asn,ENST00000551638,;	uc001tms.2	c.586G>A	1404/4710	1	1			c.586G>A						12	SNP	c.(586-588)GAC>AAC	53	53			ovary(1)|large_intestine(1)|breast(1)	3	Broad	WSC domain containing 2			108603986		0.682	ENSG00000075035	17151	g.chr12:108603986G>A		integral to membrane								68.720196	KEEP	8	17	-1	12	15	8	17	-1	68.738437	12	15	0.479167	1	0	0	0	0	1	0	0	0	--	--		0	A			WSCD2_uc001tmt.2_Missense_Mutation_p.D196N	218	GBM-28-5209-TP	p.D196N	G	GGCAGAGTGCGACATGGAGTG	NM_014653	NP_055468	108603986	Q2TBF2	WSCD2_HUMAN	0			4	1330	+	A	A			Missense_Mutation	196			WSC 1.			
WSCD2	9671		GRCh37	12	108589646	108589646	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000332082.4:c.37C>T	p.Arg13Cys	p.R13C	ENST00000332082		13	Cgc/Tgc	0																																																																																																																																																																																																																																												
WSCD2	9671		GRCh37	12	108603905	108603905	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000332082.4:c.505C>A	p.Leu169Met	p.L169M	ENST00000332082		169	Ctg/Atg	0																																																																																																																																																																																																																																												
WT1	0	broad.mit.edu	GRCh37	11	32413578	32413578	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs121907909		TCGA-27-2528-01	TCGA-27-2528-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332351.3:c.1372C>T	p.Arg458Ter	p.R458*	ENST00000332351	NM_024426.4	458	Cga/Tga	0			1			A	R/*	uc001mtn.1	protein_coding	YES	CCDS7878.2			1372/1554	D|Mis|N|F|S		EWSR1	Wilms	Wilms|desmoplastic small round cell tumor	pathogenic	EWSR1/WT1(231)	p.R390*(9)|p.V380_S410del(1)	haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687	c.(1372-1374)CGA>TGA			PROSITE_profiles:PS50157,hmmpanther:PTHR10042:SF3,hmmpanther:PTHR10042,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	Wilms tumor 1 isoform D				ENSP00000331327		10-Sep									rs121907909,COSM21397,COSM3397637	10-Sep	.	Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation	ENST00000332351	Transcript	1		adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	ENSG00000184937	g.chr11:32413578G>A	12796			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,11,32413578,G,A&fts=all	R390*	--	--	1																																		WT1_uc001mtl.1_Nonsense_Mutation_p.R246*|WT1_uc001mtm.1_Nonsense_Mutation_p.R229*|WT1_uc001mto.1_Nonsense_Mutation_p.R458*|WT1_uc001mtp.1_Nonsense_Mutation_p.R441*|WT1_uc001mtq.1_Nonsense_Mutation_p.R441*|WT1_uc009yjs.1_RNA	1,1,1	1			p.R458*	NM_024426	NP_077744			0,1,1		WT1	HGNC	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		Q6LBI3_HUMAN,J3KNN9_HUMAN,H0Y3F0_HUMAN,E9PPW3_HUMAN,E9PKS2_HUMAN,A8MN20_HUMAN,A0FJ58_HUMAN,A0FJ57_HUMAN		9	1568	-	Breast(20;0.247)		UPI0000D625D7	390			C2H2-type 3.		SNV	WT1,stop_gained,p.Arg458Ter,ENST00000332351,NM_024426.4,NM_024424.3;WT1,stop_gained,p.Arg441Ter,ENST00000452863,NM_000378.4;WT1,stop_gained,p.Arg246Ter,ENST00000379079,NM_001198551.1;WT1,stop_gained,p.Arg229Ter,ENST00000530998,NM_001198552.1;WT1,stop_gained,p.Arg458Ter,ENST00000448076,;WT1,stop_gained,p.Arg119Ter,ENST00000527882,;WT1,downstream_gene_variant,,ENST00000526685,;WT1,downstream_gene_variant,,ENST00000527775,;WT1,3_prime_UTR_variant,,ENST00000379077,;	uc001mtn.1	c.1372C>T	1657/3122	5	2			c.1372C>T	D|Mis|N|F|S		EWSR1	Wilms	Wilms|desmoplastic small round cell tumor	11	SNP	c.(1372-1374)CGA>TGA	43	43	EWSR1/WT1(231)	p.R390*(9)|p.V380_S410del(1)	haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687	Broad	Wilms tumor 1 isoform D			32413578	Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation	0.458	ENSG00000184937	17152	g.chr11:32413578G>A	adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			684			684	344.684589	KEEP	69	74	-1	152	160	69	74	-1	356.644957	152	160	0.314578	1	0	0	0	0	0	1	0	0	--	--		0	A			WT1_uc001mtl.1_Nonsense_Mutation_p.R246*|WT1_uc001mtm.1_Nonsense_Mutation_p.R229*|WT1_uc001mto.1_Nonsense_Mutation_p.R458*|WT1_uc001mtp.1_Nonsense_Mutation_p.R441*|WT1_uc001mtq.1_Nonsense_Mutation_p.R441*|WT1_uc009yjs.1_RNA	205	GBM-27-2528-TP	p.R458*	G	GAGAACTTTCGCTGACAAGTT	NM_024426	NP_077744	32413578	P19544	WT1_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(30;0.128)		9	1568	-	A	A	Breast(20;0.247)		Nonsense_Mutation	390			C2H2-type 3.			
WT1	7490		GRCh37	11	32421505	32421505	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000332351.3:c.1087A>C	p.Arg363=	p.R363=	ENST00000332351	NM_024426.4	363	Aga/Cga	0																																																																																																																																																																																																																																												
WTAP	9589	broad.mit.edu	GRCh37	6	160157288	160157288	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T			TCGA-06-0221-01	TCGA-06-0221-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358372.4:c.-8-2A>T		p.X3_splice	ENST00000358372	NM_004906.4	3		0			1			T		uc003qsl.2	protein_coding	YES	CCDS5266.1			-/1191										0	c.e2-2				Wilms' tumour 1-associating protein isoform 1				ENSP00000351141													.		ENST00000358372	Transcript			cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		ENSG00000146457	g.chr6:160157288A>T	16846			HIGH	7-Jan							--	--	1																																		WTAP_uc010kjx.2_Splice_Site|WTAP_uc003qsk.2_Splice_Site|WTAP_uc003qsm.1_Splice_Site|WTAP_uc003qsn.2_Splice_Site		1				NM_004906	NP_004897				FL2D_HUMAN	WTAP	HGNC	Q15007	FL2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	Q6AHX7_HUMAN		2	215	+		Breast(66;0.000776)|Ovarian(120;0.0303)	UPI0000070280						SNV	WTAP,splice_acceptor_variant,,ENST00000358372,NM_004906.4,NM_001270531.1;WTAP,splice_acceptor_variant,,ENST00000337387,NM_001270533.1,NM_152857.2,NM_152858.2;SOD2,intron_variant,,ENST00000546087,;SOD2,intron_variant,,ENST00000537657,;WTAP,splice_acceptor_variant,,ENST00000494513,;	uc003qsl.2	c.-7_splice	-/3656	5	2			c.-7_splice						6	SNP	c.e2-2	20	20				0	Broad	Wilms' tumour 1-associating protein isoform 1			160157288		0.318	ENSG00000146457	17153	g.chr6:160157288A>T	cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus								-46.518316	KEEP	1	4	-1	165	99	1	4	-1	9.332792	165	99	0.022727	1	0	0	0	0	0	0	0	1	--	--		0	T			WTAP_uc010kjx.2_Splice_Site|WTAP_uc003qsk.2_Splice_Site|WTAP_uc003qsm.1_Splice_Site|WTAP_uc003qsn.2_Splice_Site	53	GBM-06-0221-TP		A	TTTTTTTTTTAGGATTCAAGA	NM_004906	NP_004897	160157288	Q15007	FL2D_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	2	215	+	T	T		Breast(66;0.000776)|Ovarian(120;0.0303)	Splice_Site							
WWC1	23286	broad.mit.edu	GRCh37	5	167868746	167868746	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	rs148699341		TCGA-06-0192-01	TCGA-06-0192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521089.1:c.2340G>A	p.Trp780Ter	p.W780*	ENST00000521089		780	tgG/tgA	0			1			A	W/*	uc003lzu.2	protein_coding		CCDS4366.1			2340/3342									ovary(2)|skin(2)|breast(1)	5	c.(2338-2340)TGG>TGA			hmmpanther:PTHR14791,hmmpanther:PTHR14791:SF22,Gene3D:2.60.40.150,Superfamily_domains:SSF49562	WW and C2 domain containing 1 isoform 3				ENSP00000265293		16/23									COSM2150681	16/23	.		ENST00000265293	Transcript			cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	ENSG00000113645	g.chr5:167868746G>A	29435			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,5,167868746,G,A&fts=all	W780*	--	--	1																																		WWC1_uc003lzv.2_Nonsense_Mutation_p.W780*|WWC1_uc011den.1_Nonsense_Mutation_p.W780*|WWC1_uc003lzw.2_Nonsense_Mutation_p.W579*|WWC1_uc010jjf.1_Nonsense_Mutation_p.W47*	1				p.W780*	NM_015238	NP_056053			1	KIBRA_HUMAN	WWC1	HGNC	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)			16	2433	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	UPI000007443D	780			C2.		SNV	WWC1,stop_gained,p.Trp780Ter,ENST00000265293,NM_001161662.1,NM_001161661.1,NM_015238.2;WWC1,stop_gained,p.Trp742Ter,ENST00000393895,;WWC1,stop_gained,p.Trp780Ter,ENST00000521089,;WWC1,stop_gained,p.Trp557Ter,ENST00000524228,;WWC1,stop_gained,p.Trp106Ter,ENST00000524038,;WWC1,non_coding_transcript_exon_variant,,ENST00000522140,;WWC1,intron_variant,,ENST00000524093,;	uc003lzu.2	c.2340G>A	2842/7130	5	2			c.2340G>A						5	SNP	c.(2338-2340)TGG>TGA	20	20			ovary(2)|skin(2)|breast(1)	5	Broad	WW and C2 domain containing 1 isoform 3			167868746		0.602	ENSG00000113645	17155	g.chr5:167868746G>A	cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity							42.399819	KEEP	23	9	-1	63	39	23	9	-1	52.240848	63	39	0.190909	1	0	0	0	0	0	1	0	0	--	--		0	A			WWC1_uc003lzv.2_Nonsense_Mutation_p.W780*|WWC1_uc011den.1_Nonsense_Mutation_p.W780*|WWC1_uc003lzw.2_Nonsense_Mutation_p.W579*|WWC1_uc010jjf.1_Nonsense_Mutation_p.W47*	44	GBM-06-0192-TP	p.W780*	G	CGACTCGCTGGTACAACCTTC	NM_015238	NP_056053	167868746	Q8IX03	KIBRA_HUMAN	0	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	16	2433	+	A	A	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Nonsense_Mutation	780			C2.			
WWC1	0	broad.mit.edu	GRCh37	5	167880985	167880985	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0821-01	TCGA-12-0821-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265293.4:c.2538G>A	p.Glu846=	p.E846=	ENST00000265293	NM_001161662.1	846	gaG/gaA	0			1			A	E	uc003lzu.2	protein_coding		CCDS4366.1			2538/3342									ovary(2)|skin(2)|breast(1)	5	c.(2536-2538)GAG>GAA			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14791,hmmpanther:PTHR14791:SF22	WW and C2 domain containing 1 isoform 3				ENSP00000265293		18/23									COSM3410114	18/23	.		ENST00000265293	Transcript			cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	ENSG00000113645	g.chr5:167880985G>A	29435			LOW								--	--	1																																		WWC1_uc003lzv.2_Silent_p.E846E|WWC1_uc011den.1_Silent_p.E846E|WWC1_uc003lzw.2_Silent_p.E645E|WWC1_uc010jjf.1_Silent_p.E118E	1				p.E846E	NM_015238	NP_056053			1	KIBRA_HUMAN	WWC1	HGNC	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)			18	2631	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	UPI000007443D	846			Glu-rich.|Interaction with histone H3.		SNV	WWC1,synonymous_variant,p.=,ENST00000265293,NM_001161662.1,NM_001161661.1,NM_015238.2;WWC1,synonymous_variant,p.=,ENST00000393895,;WWC1,synonymous_variant,p.=,ENST00000521089,;WWC1,synonymous_variant,p.=,ENST00000524228,;WWC1,synonymous_variant,p.=,ENST00000524038,;WWC1,non_coding_transcript_exon_variant,,ENST00000522140,;WWC1,non_coding_transcript_exon_variant,,ENST00000524093,;	uc003lzu.2	c.2538G>A	3040/7130	1	1			c.2538G>A						5	SNP	c.(2536-2538)GAG>GAA	61	61			ovary(2)|skin(2)|breast(1)	5	Broad	WW and C2 domain containing 1 isoform 3			167880985		0.403	ENSG00000113645	17155	g.chr5:167880985G>A	cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity							104.496972	KEEP	25	15	-1	39	29	25	15	-1	106.712786	39	29	0.343137	1	0	0	0	0	0	0	1	0	--	--		0	A			WWC1_uc003lzv.2_Silent_p.E846E|WWC1_uc011den.1_Silent_p.E846E|WWC1_uc003lzw.2_Silent_p.E645E|WWC1_uc010jjf.1_Silent_p.E118E	123	GBM-12-0821-TP	p.E846E	G	GGTATGAGGAGACCAGTGAGA	NM_015238	NP_056053	167880985	Q8IX03	KIBRA_HUMAN	0	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	18	2631	+	A	A	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Silent	846			Glu-rich.|Interaction with histone H3.			
WWC1	0	broad.mit.edu	GRCh37	5	167841446	167841446	+	synonymous_variant	Silent	SNP	C	C	T	rs61730020	byFrequency;by1000genomes	TCGA-16-1045-01	TCGA-16-1045-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000265293.4:c.1035C>T	p.Asn345=	p.N345=	ENST00000265293	NM_001161662.1	345	aaC/aaT	0	T:0.0118	T:0.0174	1	T:0.0014		T	N	uc003lzu.2	protein_coding		CCDS4366.1			1035/3342									ovary(2)|skin(2)|breast(1)	5	c.(1033-1035)AAC>AAT			Low_complexity_(Seg):seg,hmmpanther:PTHR14791,hmmpanther:PTHR14791:SF22	WW and C2 domain containing 1 isoform 3		T:0	T:0.0029	ENSP00000265293	T:0.003	23-Sep	0.0019	0.0146	0.00147			0.00352		0.000625	rs61730020,COSM3748293	23-Sep	common_variant		ENST00000265293	Transcript		T:0.0054	cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	ENSG00000113645	g.chr5:167841446C>T	29435			LOW								--	--	1																																		WWC1_uc003lzv.2_Silent_p.N345N|WWC1_uc011den.1_Silent_p.N345N|WWC1_uc003lzw.2_Silent_p.N144N	0,1				p.N345N	NM_015238	NP_056053	T:0		0,1	KIBRA_HUMAN	WWC1	HGNC	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)			9	1128	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	UPI000007443D	345			Potential.		SNV	WWC1,synonymous_variant,p.=,ENST00000265293,NM_001161662.1,NM_001161661.1,NM_015238.2;WWC1,synonymous_variant,p.=,ENST00000393895,;WWC1,synonymous_variant,p.=,ENST00000521089,;WWC1,synonymous_variant,p.=,ENST00000524228,;WWC1,non_coding_transcript_exon_variant,,ENST00000517425,;WWC1,non_coding_transcript_exon_variant,,ENST00000517646,;WWC1,non_coding_transcript_exon_variant,,ENST00000518334,;WWC1,downstream_gene_variant,,ENST00000519659,;	uc003lzu.2	c.1035C>T	1537/7130	2	2			c.1035C>T						5	SNP	c.(1033-1035)AAC>AAT	19	19			ovary(2)|skin(2)|breast(1)	5	Broad	WW and C2 domain containing 1 isoform 3			167841446		0.627	ENSG00000113645	17155	g.chr5:167841446C>T	cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity							16.043313	KEEP	2	4	-1	6	9	2	4	-1	16.907459	6	9	0.285714	1	0	0	0	0	0	0	1	0	--	--		0	T			WWC1_uc003lzv.2_Silent_p.N345N|WWC1_uc011den.1_Silent_p.N345N|WWC1_uc003lzw.2_Silent_p.N144N	157	GBM-16-1045-TP	p.N345N	C	TCCTTATCAACGAGAAGGAGG	NM_015238	NP_056053	167841446	Q8IX03	KIBRA_HUMAN	0	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	9	1128	+	T	T	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Silent	345			Potential.			
WWC2	80014	broad.mit.edu	GRCh37	4	184210574	184210574	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-06-5417-01	TCGA-06-5417-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000403733.3:c.3170del	p.Thr1057LysfsTer11	p.T1057Kfs*11	ENST00000403733	NM_024949.5	1057	aCa/aa	0			1			-	T/X	uc010irx.2	protein_coding	YES	CCDS34109.2			3170/3579									ovary(2)|lung(1)	3	c.(3169-3171)ACAfs			hmmpanther:PTHR14791,hmmpanther:PTHR14791:SF26	WW and C2 domain containing 2				ENSP00000384222		21/23										21/23	.		ENST00000403733	Transcript						ENSG00000151718	g.chr4:184210574delC	24148			HIGH								--	--	1																																		WWC2_uc003ivk.3_Frame_Shift_Del_p.T852fs|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Frame_Shift_Del_p.T739fs|WWC2_uc003ivn.3_Frame_Shift_Del_p.T572fs|WWC2_uc010irz.2_Frame_Shift_Del_p.T398fs|WWC2_uc003ivo.3_Frame_Shift_Del_p.T185fs		1			p.T1057fs	NM_024949	NP_079225				WWC2_HUMAN	WWC2	HGNC	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)			21	3352	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	UPI000022C4C2	1057					deletion	WWC2,frameshift_variant,p.Thr1057LysfsTer11,ENST00000403733,NM_024949.5;WWC2,frameshift_variant,p.Thr1081LysfsTer11,ENST00000448232,;WWC2,frameshift_variant,p.Thr739LysfsTer11,ENST00000504005,;WWC2,frameshift_variant,p.Thr1008LysfsTer11,ENST00000513834,;WWC2,frameshift_variant,p.Thr185LysfsTer11,ENST00000508747,;WWC2,3_prime_UTR_variant,,ENST00000427431,;WWC2,3_prime_UTR_variant,,ENST00000438543,;	uc010irx.2	c.3170delC	3369/8826	5	5			c.3170delC						4	DEL	c.(3169-3171)ACAfs	60	60			ovary(2)|lung(1)	3	Broad	WW and C2 domain containing 2			184210574		0.498	ENSG00000151718	17156	g.chr4:184210574delC																							0.37	1	1	0	1	0	0	0	0	0	--	--		0	-			WWC2_uc003ivk.3_Frame_Shift_Del_p.T852fs|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Frame_Shift_Del_p.T739fs|WWC2_uc003ivn.3_Frame_Shift_Del_p.T572fs|WWC2_uc010irz.2_Frame_Shift_Del_p.T398fs|WWC2_uc003ivo.3_Frame_Shift_Del_p.T185fs	99	GBM-06-5417-TP	p.T1057fs	C	CTTAGAAGAACAACACAGGAA	NM_024949	NP_079225	184210574	Q6AWC2	WWC2_HUMAN	0		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	21	3352	+	-	-		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	Frame_Shift_Del	1057						
WWC2	0	broad.mit.edu	GRCh37	4	184166575	184166576	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A			TCGA-27-1831-01	TCGA-27-1831-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000403733.3:c.616dupA	p.Met206AsnfsTer9	p.M206Nfs*9	ENST00000403733	NM_024949.5	203	-/A	0			1			A	-/X	uc010irx.2	protein_coding	YES	CCDS34109.2			609-610/3579									ovary(2)|lung(1)	3	c.(607-612)GATAAAfs			hmmpanther:PTHR14791,hmmpanther:PTHR14791:SF26	WW and C2 domain containing 2				ENSP00000384222		23-Jun	1.65E-05					8.85E-05			rs760401865	23-Jun	.		ENST00000403733	Transcript						ENSG00000151718	g.chr4:184166575_184166576insA	24148	7		HIGH								--	--	1																																		WWC2_uc003ivk.3_5'UTR|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Intron		1			p.D203fs	NM_024949	NP_079225				WWC2_HUMAN	WWC2	HGNC	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)			6	791_792	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	UPI000022C4C2	203_204					insertion	WWC2,frameshift_variant,p.Met206AsnfsTer9,ENST00000403733,NM_024949.5;WWC2,frameshift_variant,p.Met206AsnfsTer9,ENST00000448232,;WWC2,frameshift_variant,p.Met206AsnfsTer9,ENST00000513834,;WWC2,frameshift_variant,p.Met108AsnfsTer9,ENST00000378925,;WWC2,intron_variant,,ENST00000504005,;WWC2-AS1,upstream_gene_variant,,ENST00000511846,;WWC2,frameshift_variant,p.Met108AsnfsTer9,ENST00000438543,;WWC2,3_prime_UTR_variant,,ENST00000427431,;WWC2,3_prime_UTR_variant,,ENST00000508614,;	uc010irx.2	c.609_610insA	808-809/8826	5	5			c.609_610insA						4	INS	c.(607-612)GATAAAfs	29	29			ovary(2)|lung(1)	3	Broad	WW and C2 domain containing 2			184166576		0.356	ENSG00000151718	17156	g.chr4:184166575_184166576insA																							0.33	1	0	0	1	1	0	0	0	0	--	--		0	A			WWC2_uc003ivk.3_5'UTR|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Intron	190	GBM-27-1831-TP	p.D203fs	-	ACAGAATTGATAAAAAAATGTC	NM_024949	NP_079225	184166575	Q6AWC2	WWC2_HUMAN	0		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	6	791_792	+	A	A		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	Frame_Shift_Ins	203_204						
WWC2	80014		GRCh37	4	184201996	184201998	+	inframe_deletion	In_Frame_Del	DEL	AAG	AAG	-			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000403733.3:c.2644_2646del	p.Glu882del	p.E882del	ENST00000403733	NM_024949.5	877	cAAGaa/caa	0																																																																																																																																																																																																																																												
WWC3	0	broad.mit.edu	GRCh37	X	10066544	10066544	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T			TCGA-12-0615-01	TCGA-12-0615-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380861.4:c.658-2A>T		p.X220_splice	ENST00000380861	NM_015691.3			0			1			T		uc004csx.3	protein_coding	YES	CCDS14136.1			658/3279									ovary(4)	4	c.e8-2				WWC family member 3				ENSP00000370242											COSM2153531		.		ENST00000380861	Transcript						ENSG00000047644	g.chrX:10066544A>T	29237			HIGH	22-Jul							--	--	1																																		WWC3_uc010nds.2_Splice_Site|WWC3_uc010ndt.2_Splice_Site	1	1			p.F220_splice	NM_015691	NP_056506			1	WWC3_HUMAN	WWC3	HGNC	Q9ULE0	WWC3_HUMAN			T2C6S4_HUMAN		8	856	+			UPI0000225CDE						SNV	WWC3,splice_acceptor_variant,,ENST00000380861,NM_015691.3;WWC3,splice_acceptor_variant,,ENST00000454666,;	uc004csx.3	c.658_splice	-/6647	5	1			c.658_splice						23	SNP	c.e8-2	4	4			ovary(4)	4	Broad	WWC family member 3			10066544		0.348	ENSG00000047644	17157	g.chrX:10066544A>T										137.651347	KEEP	26	24	-1	39	37	26	24	-1	138.649016	39	37	0.4	1	0	0	0	0	0	0	0	1	--	--		0	T			WWC3_uc010nds.2_Splice_Site|WWC3_uc010ndt.2_Splice_Site	117	GBM-12-0615-TP	p.F220_splice	A	TGTTCCGGAAAGTTTGTCTTT	NM_015691	NP_056506	10066544	Q9ULE0	WWC3_HUMAN	0			8	856	+	T	T			Splice_Site							
WWC3	0	broad.mit.edu	GRCh37	X	10096087	10096087	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2625-01	TCGA-19-2625-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380861.4:c.2166G>A	p.Trp722Ter	p.W722*	ENST00000380861	NM_015691.3	722	tgG/tgA	0			1			A	W/*	uc004csx.3	protein_coding	YES	CCDS14136.1			2166/3279									ovary(4)	4	c.(2164-2166)TGG>TGA			Gene3D:2.60.40.150,hmmpanther:PTHR14791,hmmpanther:PTHR14791:SF25	WWC family member 3				ENSP00000370242		16/23									COSM3405779	16/23	.		ENST00000380861	Transcript						ENSG00000047644	g.chrX:10096087G>A	29237			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,X,10096087,G,A&fts=all	W722*	--	--	1																																		WWC3_uc010nds.2_Nonsense_Mutation_p.W386*|WWC3_uc010ndt.2_RNA	1	1			p.W722*	NM_015691	NP_056506			1	WWC3_HUMAN	WWC3	HGNC	Q9ULE0	WWC3_HUMAN			T2C6S4_HUMAN		16	2364	+			UPI0000225CDE	722					SNV	WWC3,stop_gained,p.Trp722Ter,ENST00000380861,NM_015691.3;WWC3,stop_gained,p.Trp722Ter,ENST00000454666,;	uc004csx.3	c.2166G>A	2557/6647	5	1			c.2166G>A						23	SNP	c.(2164-2166)TGG>TGA	63	63			ovary(4)	4	Broad	WWC family member 3			10096087		0.562	ENSG00000047644	17157	g.chrX:10096087G>A										-41.166208	KEEP	2	2	-1	100	94	2	2	-1	6.435366	100	94	0.021505	1	0	0	0	0	0	1	0	0	--	--		0	A			WWC3_uc010nds.2_Nonsense_Mutation_p.W386*|WWC3_uc010ndt.2_RNA	165	GBM-19-2625-TP	p.W722*	G	AGCTGCGCTGGCATTCCGTGC	NM_015691	NP_056506	10096087	Q9ULE0	WWC3_HUMAN	0			16	2364	+	A	A			Nonsense_Mutation	722						
WWC3	55841		GRCh37	X	10058926	10058926	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000380861.4:c.493C>T	p.Arg165Trp	p.R165W	ENST00000380861	NM_015691.3	165	Cgg/Tgg	0																																																																																																																																																																																																																																												
WWP2	0	broad.mit.edu	GRCh37	16	69973830	69973830	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-14-0871-01	TCGA-14-0871-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359154.2:c.2600T>C	p.Phe867Ser	p.F867S	ENST00000359154	NM_001270454.1	867	tTt/tCt	0			1			C	F/S	uc002exu.1	protein_coding	YES	CCDS10885.1			2600/2613									lung(3)|ovary(1)|breast(1)|skin(1)	6	c.(2599-2601)TTT>TCT			Pfam_domain:PF00632,PIRSF_domain:PIRSF001569,PROSITE_profiles:PS50237,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF287,SMART_domains:SM00119	WW domain containing E3 ubiquitin protein ligase				ENSP00000352069		24/24									COSM3402442	24/24	.		ENST00000359154	Transcript			entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	ENSG00000198373	g.chr16:69973830T>C	16804			MODERATE		4.655	high	getma.org/?cm=msa&ty=f&p=WWP2_HUMAN&rb=565&re=870&var=F867S	NA	getma.org/?cm=var&var=hg19,16,69973830,T,C&fts=all	F867S	--	--	1																																		WWP2_uc002exv.1_Missense_Mutation_p.F867S|WWP2_uc010vlm.1_Missense_Mutation_p.F751S|WWP2_uc010vln.1_Missense_Mutation_p.F485S|WWP2_uc002exw.1_Missense_Mutation_p.F428S	1	1		probably_damaging(0.999)	p.F867S	NM_007014	NP_008945		deleterious(0)	1	WWP2_HUMAN	WWP2	HGNC	O00308	WWP2_HUMAN			H3BRX8_HUMAN,H3BPJ8_HUMAN,B4DHF6_HUMAN		25	2689	+			UPI000006CD16	867			HECT.		SNV	WWP2,missense_variant,p.Phe867Ser,ENST00000359154,NM_001270454.1,NM_007014.4;WWP2,missense_variant,p.Phe867Ser,ENST00000448661,;WWP2,missense_variant,p.Phe867Ser,ENST00000356003,;WWP2,missense_variant,p.Phe428Ser,ENST00000568684,NM_199424.2;WWP2,missense_variant,p.Phe751Ser,ENST00000542271,NM_001270453.1;WWP2,non_coding_transcript_exon_variant,,ENST00000544162,;WWP2,non_coding_transcript_exon_variant,,ENST00000569297,;WWP2,non_coding_transcript_exon_variant,,ENST00000566463,;WWP2,downstream_gene_variant,,ENST00000567161,;WWP2,downstream_gene_variant,,ENST00000567303,;	uc002exu.1	c.2600T>C	2701/4515	4	4			c.2600T>C						16	SNP	c.(2599-2601)TTT>TCT	34	34			lung(3)|ovary(1)|breast(1)|skin(1)	6	Broad	WW domain containing E3 ubiquitin protein ligase			69973830		0.612	ENSG00000198373	17160	g.chr16:69973830T>C	entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity							77.826374	KEEP	11	12	-1	0	2	11	12	-1	79.836944	0	2	0.954545	1	0	0	0	0	1	0	0	0	--	--		0	C			WWP2_uc002exv.1_Missense_Mutation_p.F867S|WWP2_uc010vlm.1_Missense_Mutation_p.F751S|WWP2_uc010vln.1_Missense_Mutation_p.F485S|WWP2_uc002exw.1_Missense_Mutation_p.F428S	141	GBM-14-0871-TP	p.F867S	T	ACCGAGGGCTTTGGACAGGAG	NM_007014	NP_008945	69973830	O00308	WWP2_HUMAN	0			25	2689	+	C	C			Missense_Mutation	867			HECT.			
XAB2	0	broad.mit.edu	GRCh37	19	7687257	7687257	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-26-6173-01	TCGA-26-6173-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358368.4:c.1577T>C	p.Met526Thr	p.M526T	ENST00000358368	NM_020196.2	526	aTg/aCg	0	G:0		1			G	M/T	uc002mgx.2	protein_coding	YES	CCDS32892.1			1577/2568									central_nervous_system(2)|breast(1)|skin(1)	4	c.(1576-1578)ATG>ACG		Direct_reversal_of_damage|NER	Gene3D:1.25.40.10,PROSITE_profiles:PS50293,hmmpanther:PTHR11246,hmmpanther:PTHR11246:SF13,SMART_domains:SM00386,Superfamily_domains:SSF48452	XPA binding protein 2			G:0.0001	ENSP00000351137		19-Dec	1.65E-05					3.00E-05			rs374151176,COSM3404779	19-Dec	.		ENST00000358368	Transcript			transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	ENSG00000076924	g.chr19:7687257A>G	14089			MODERATE		0.95	low	getma.org/?cm=msa&ty=f&p=SYF1_HUMAN&rb=463&re=662&var=M526T	NA	getma.org/?cm=var&var=hg19,19,7687257,A,G&fts=all	M526T	--	--	1																																			0,1	1		benign(0.002)	p.M526T	NM_020196	NP_064581		tolerated(0.39)	0,1	SYF1_HUMAN	XAB2	HGNC	Q9HCS7	SYF1_HUMAN			Q68CN2_HUMAN,F5H315_HUMAN		12	1603	-			UPI0000001BDE	526			HAT 10.		SNV	XAB2,missense_variant,p.Met526Thr,ENST00000358368,NM_020196.2;XAB2,missense_variant,p.Met523Thr,ENST00000534844,;CAMSAP3,downstream_gene_variant,,ENST00000446248,NM_001080429.2;CAMSAP3,downstream_gene_variant,,ENST00000160298,NM_020902.1;XAB2,non_coding_transcript_exon_variant,,ENST00000595288,;CAMSAP3,downstream_gene_variant,,ENST00000595692,;XAB2,upstream_gene_variant,,ENST00000600230,;XAB2,upstream_gene_variant,,ENST00000596134,;CAMSAP3,downstream_gene_variant,,ENST00000593434,;	uc002mgx.2	c.1577T>C	1615/2667	4	4			c.1577T>C						19	SNP	c.(1576-1578)ATG>ACG	29	29			central_nervous_system(2)|breast(1)|skin(1)	4	Broad	XPA binding protein 2	Direct_reversal_of_damage|NER		7687257		0.607	ENSG00000076924	17162	g.chr19:7687257A>G	transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding							99.260378	KEEP	26	19	-1	75	79	26	19	-1	109.88625	75	79	0.241379	1	0	0	0	0	1	0	0	0	--	--		0	G				187	GBM-26-6173-TP	p.M526T	A	CTCCAGGAACATGGCATAGTT	NM_020196	NP_064581	7687257	Q9HCS7	SYF1_HUMAN	0			12	1603	-	G	G			Missense_Mutation	526			HAT 10.			
XCL1	0	broad.mit.edu	GRCh37	1	168549318	168549318	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-28-5216-01	TCGA-28-5216-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000367818.3:c.79T>G	p.Ser27Ala	p.S27A	ENST00000367818	NM_002995.2	27	Tca/Gca	0			1			G	S/A	uc001gfo.1	protein_coding	YES	CCDS1274.1			79/345										0	c.(79-81)TCA>GCA			Gene3D:2.40.50.40,Prints_domain:PR01731,hmmpanther:PTHR12015,hmmpanther:PTHR12015:SF3,Superfamily_domains:SSF54117	chemokine (C motif) ligand 1				ENSP00000356792		3-Feb									COSM3399965	3-Feb	.		ENST00000367818	Transcript			CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity	ENSG00000143184	g.chr1:168549318T>G	10645			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=XCL1_HUMAN&rb=23&re=84&var=S27A	getma.org/pdb.php?prot=XCL1_HUMAN&from=23&to=84&var=S27A	getma.org/?cm=var&var=hg19,1,168549318,T,G&fts=all	S27A	--	--	1																																			1	1		benign(0.079)	p.S27A	NM_002995	NP_002986		tolerated(0.16)	1	XCL1_HUMAN	XCL1	HGNC	P47992	XCL1_HUMAN					2	99	+	all_hematologic(923;0.208)		UPI000013633F	27					SNV	XCL1,missense_variant,p.Ser27Ala,ENST00000367818,NM_002995.2;RP4-738P11.4,upstream_gene_variant,,ENST00000426573,;	uc001gfo.1	c.79T>G	244/1367	3	3			c.79T>G						1	SNP	c.(79-81)TCA>GCA	7	7				0	Broad	chemokine (C motif) ligand 1			168549318		0.433	ENSG00000143184	17167	g.chr1:168549318T>G	CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity							233.381018	KEEP	44	41	-1	58	63	44	41	-1	234.803067	58	63	0.41	1	0	0	0	0	1	0	0	0	--	--		0	G				223	GBM-28-5216-TP	p.S27A	T	GAGTGAAGTCTCAGATAAGAG	NM_002995	NP_002986	168549318	P47992	XCL1_HUMAN	0			2	99	+	G	G	all_hematologic(923;0.208)		Missense_Mutation	27						
XDH	0	broad.mit.edu	GRCh37	2	31588885	31588885	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs140007233		TCGA-41-2573-01	TCGA-41-2573-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379416.3:c.2413C>T	p.Arg805Trp	p.R805W	ENST00000379416	NM_000379.3	805	Cgg/Tgg	0	A:0.0002		1			A	R/W	uc002rnv.1	protein_coding	YES	CCDS1775.1			2413/4002									skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	c.(2413-2415)CGG>TGG			Superfamily_domains:SSF56003,PIRSF_domain:PIRSF000127,Pfam_domain:PF02738,Gene3D:3.30.365.10,PROSITE_patterns:PS00559,hmmpanther:PTHR11908:SF32,hmmpanther:PTHR11908	xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)		A:0	ENSP00000368727		22/36	0.000115					0.000195		6.06E-05	rs140007233,COSM1581953	22/36	.		ENST00000379416	Transcript	1		purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	ENSG00000158125	g.chr2:31588885G>A	12805			MODERATE		3.74	high	getma.org/?cm=msa&ty=f&p=XDH_HUMAN&rb=702&re=1237&var=R805W	getma.org/pdb.php?prot=XDH_HUMAN&from=702&to=1237&var=R805W	getma.org/?cm=var&var=hg19,2,31588885,G,A&fts=all	R805W	--	--	1																																			0,1	1		probably_damaging(0.999)	p.R805W	NM_000379	NP_000370		deleterious(0)	0,1	XDH_HUMAN	XDH	HGNC	P47989	XDH_HUMAN			Q585T6_HUMAN		22	2492	-	Acute lymphoblastic leukemia(172;0.155)		UPI0000036BC9	805					SNV	XDH,missense_variant,p.Arg805Trp,ENST00000379416,NM_000379.3;	uc002rnv.1	c.2413C>T	2462/5688	2	2			c.2413C>T						2	SNP	c.(2413-2415)CGG>TGG	29	29			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Broad	xanthine dehydrogenase		Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	31588885		0.527	ENSG00000158125	17170	g.chr2:31588885G>A	purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	Colon(66;682 1445 30109 40147)			Colon(66;682 1445 30109 40147)			188.322054	KEEP	28	35	-1	40	44	28	35	-1	189.116802	40	44	0.41958	1	0	0	0	0	1	0	0	0	--	--		0	A				252	GBM-41-2573-TP	p.R805W	G	ACAGTGCTCCGGGTCTCCTTG	NM_000379	NP_000370	31588885	P47989	XDH_HUMAN	0			22	2492	-	A	A	Acute lymphoblastic leukemia(172;0.155)		Missense_Mutation	805						
XIRP1	0	broad.mit.edu	GRCh37	3	39225931	39225931	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-12-0692-01	TCGA-12-0692-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340369.3:c.5006C>A	p.Ser1669Tyr	p.S1669Y	ENST00000340369	NM_194293.2	1669	tCc/tAc	0			1			T	S/Y	uc003cjk.1	protein_coding	YES	CCDS2683.1			5006/5532									ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8	c.(5005-5007)TCC>TAC			hmmpanther:PTHR22591	xin actin-binding repeat containing 1				ENSP00000343140		2-Feb									COSM3408655	2-Feb	.		ENST00000340369	Transcript					actin binding	ENSG00000168334	g.chr3:39225931G>T	14301			MODERATE		2.16	medium	getma.org/?cm=msa&ty=f&p=XIRP1_HUMAN&rb=951&re=1841&var=S1669Y	NA	getma.org/?cm=var&var=hg19,3,39225931,G,T&fts=all	S1669Y	--	--	1																																		XIRP1_uc003cji.2_3'UTR|XIRP1_uc003cjj.2_Missense_Mutation_p.S352Y	1	1		possibly_damaging(0.879)	p.S1669Y	NM_194293	NP_919269		deleterious(0)	1	XIRP1_HUMAN	XIRP1	HGNC	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)			2	5227	-			UPI00001BFB06	1669					SNV	XIRP1,missense_variant,p.Ser1669Tyr,ENST00000340369,NM_194293.2;XIRP1,missense_variant,p.Ser352Tyr,ENST00000421646,;XIRP1,3_prime_UTR_variant,,ENST00000396251,NM_001198621.1;	uc003cjk.1	c.5006C>A	5235/6460	2	2			c.5006C>A						3	SNP	c.(5005-5007)TCC>TAC	28	28			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8	Broad	xin actin-binding repeat containing 1			39225931		0.537	ENSG00000168334	17173	g.chr3:39225931G>T			actin binding							142.495908	KEEP	42	25	0.626865672	55	28	42	25	0.626865672	143.129126	55	28	0.422764	1	0	0	0	0	1	0	0	0	--	--		0	T			XIRP1_uc003cji.2_3'UTR|XIRP1_uc003cjj.2_Missense_Mutation_p.S352Y	122	GBM-12-0692-TP	p.S1669Y	G	AAATGTTGGGGAGGAGGGAGA	NM_194293	NP_919269	39225931	Q702N8	XIRP1_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	5227	-	T	T			Missense_Mutation	1669						
XIRP2	129446	broad.mit.edu	GRCh37	2	168101563	168101563	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0145-01	TCGA-06-0145-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409195.1:c.3661A>G	p.Lys1221Glu	p.K1221E	ENST00000409195	NM_152381.5	1221	Aaa/Gaa	0			1			G	K/E	uc002udx.2	protein_coding	YES	CCDS42769.1			3661/10650									skin(7)|ovary(6)|pancreas(1)	14	c.(3661-3663)AAA>GAA			hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	xin actin-binding repeat containing 2 isoform 1				ENSP00000386840		11-Sep									COSM1722961	11-Sep	.		ENST00000409195	Transcript			actin cytoskeleton organization	cell junction	actin binding	ENSG00000163092	g.chr2:168101563A>G	14303			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=XIRP2_HUMAN&rb=963&re=1058&var=K1046E	NA	getma.org/?cm=var&var=hg19,2,168101563,A,G&fts=all	K1046E	--	--	1																																		XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.K1046E|XIRP2_uc010fpq.2_Missense_Mutation_p.K999E|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	1	1		benign(0.018)	p.K1221E	NM_152381	NP_689594			1		XIRP2	HGNC	A4UGR9	XIRP2_HUMAN			J3KNB1_HUMAN		8	3679	+			UPI0000E9BBED	1046					SNV	XIRP2,missense_variant,p.Lys1221Glu,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Lys1221Glu,ENST00000295237,;XIRP2,missense_variant,p.Lys999Glu,ENST00000409273,NM_001199144.1;XIRP2,intron_variant,,ENST00000409728,NM_001199143.1;XIRP2,intron_variant,,ENST00000409043,NM_001079810.3;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409605,NM_001199145.1;	uc002udx.2	c.3661A>G	3750/12675	3	3			c.3661A>G						2	SNP	c.(3661-3663)AAA>GAA	55	55			skin(7)|ovary(6)|pancreas(1)	14	Broad	xin actin-binding repeat containing 2 isoform 1			168101563		0.308	ENSG00000163092	17174	g.chr2:168101563A>G	actin cytoskeleton organization	cell junction	actin binding							85.460034	KEEP	12	13	-1	19	24	12	13	-1	86.40646	19	24	0.373134	1	0	0	0	0	1	0	0	0	--	--		0	G			XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.K1046E|XIRP2_uc010fpq.2_Missense_Mutation_p.K999E|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	23	GBM-06-0145-TP	p.K1221E	A	GGAAGTTTTGAAAAAGATCAA	NM_152381	NP_689594	168101563	A4UGR9	XIRP2_HUMAN	0			8	3679	+	G	G			Missense_Mutation	1046						
XIRP2	129446	broad.mit.edu	GRCh37	2	168107813	168107813	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01	TCGA-06-0939-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409195.1:c.9911G>A	p.Arg3304His	p.R3304H	ENST00000409195	NM_152381.5	3304	cGc/cAc	0			1			A	R/H	uc002udx.2	protein_coding	YES	CCDS42769.1			9911/10650									skin(7)|ovary(6)|pancreas(1)	14	c.(9910-9912)CGC>CAC			hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	xin actin-binding repeat containing 2 isoform 1				ENSP00000386840		11-Sep	8.27E-06							6.08E-05	rs762492641,COSM2152416	11-Sep	.		ENST00000409195	Transcript			actin cytoskeleton organization	cell junction	actin binding	ENSG00000163092	g.chr2:168107813G>A	14303			MODERATE		-0.145	neutral	getma.org/?cm=msa&ty=f&p=XIRP2_HUMAN&rb=1694&re=3372&var=R3129H	NA	getma.org/?cm=var&var=hg19,2,168107813,G,A&fts=all	R3129H	--	--	1																																		XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R3129H|XIRP2_uc010fpq.2_Missense_Mutation_p.R3082H|XIRP2_uc010fpr.2_Intron	0,1	1		benign(0.006)	p.R3304H	NM_152381	NP_689594			0,1		XIRP2	HGNC	A4UGR9	XIRP2_HUMAN			J3KNB1_HUMAN		8	9929	+			UPI0000E9BBED	3129					SNV	XIRP2,missense_variant,p.Arg3304His,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Arg3304His,ENST00000295237,;XIRP2,missense_variant,p.Arg3082His,ENST00000409273,NM_001199144.1;XIRP2,intron_variant,,ENST00000409728,NM_001199143.1;XIRP2,intron_variant,,ENST00000409043,NM_001079810.3;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409605,NM_001199145.1;	uc002udx.2	c.9911G>A	10000/12675	1	1			c.9911G>A						2	SNP	c.(9910-9912)CGC>CAC	63	63			skin(7)|ovary(6)|pancreas(1)	14	Broad	xin actin-binding repeat containing 2 isoform 1			168107813		0.438	ENSG00000163092	17174	g.chr2:168107813G>A	actin cytoskeleton organization	cell junction	actin binding							218.49423	KEEP	47	45	-1	86	118	47	45	-1	226.571801	86	118	0.312741	1	0	0	0	0	1	0	0	0	--	--		0	A			XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R3129H|XIRP2_uc010fpq.2_Missense_Mutation_p.R3082H|XIRP2_uc010fpr.2_Intron	78	GBM-06-0939-TP	p.R3304H	G	GTGCCTCCTCGCCTGTCAGAG	NM_152381	NP_689594	168107813	A4UGR9	XIRP2_HUMAN	0			8	9929	+	A	A			Missense_Mutation	3129						
XIRP2	129446	broad.mit.edu	GRCh37	2	167760222	167760222	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-5408-01	TCGA-06-5408-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409195.1:c.230A>G	p.Glu77Gly	p.E77G	ENST00000409195	NM_152381.5	77	gAg/gGg	0			1			G	E/G	uc002udx.2	protein_coding	YES	CCDS42769.1			230/10650									skin(7)|ovary(6)|pancreas(1)	14	c.(229-231)GAG>GGG				xin actin-binding repeat containing 2 isoform 1				ENSP00000386840		11-Feb									COSM3407018,COSM3407019	11-Feb	.		ENST00000409195	Transcript			actin cytoskeleton organization	cell junction	actin binding	ENSG00000163092	g.chr2:167760222A>G	14303			MODERATE								--	--	1																																		XIRP2_uc010fpn.2_Missense_Mutation_p.E77G|XIRP2_uc010fpo.2_Missense_Mutation_p.E77G|XIRP2_uc010fpp.2_Missense_Mutation_p.E77G	1,1	1		benign(0)	p.E77G	NM_152381	NP_689594			1,1		XIRP2	HGNC	A4UGR9	XIRP2_HUMAN			J3KNB1_HUMAN		1	248	+			UPI0000E9BBED	Error:Variant_position_missing_in_A4UGR9_after_alignment					SNV	XIRP2,missense_variant,p.Glu77Gly,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Glu77Gly,ENST00000295237,;XIRP2,missense_variant,p.Glu77Gly,ENST00000409728,NM_001199143.1;XIRP2,missense_variant,p.Glu77Gly,ENST00000409043,NM_001079810.3;XIRP2,missense_variant,p.Glu77Gly,ENST00000409756,;XIRP2,missense_variant,p.Glu77Gly,ENST00000420519,;	uc002udx.2	c.230A>G	319/12675	3	3			c.230A>G						2	SNP	c.(229-231)GAG>GGG	8	8			skin(7)|ovary(6)|pancreas(1)	14	Broad	xin actin-binding repeat containing 2 isoform 1			167760222		0.522	ENSG00000163092	17174	g.chr2:167760222A>G	actin cytoskeleton organization	cell junction	actin binding							55.790305	KEEP	10	8	-1	10	18	10	8	-1	56.407872	10	18	0.372093	1	0	0	0	0	1	0	0	0	--	--		0	G			XIRP2_uc010fpn.2_Missense_Mutation_p.E77G|XIRP2_uc010fpo.2_Missense_Mutation_p.E77G|XIRP2_uc010fpp.2_Missense_Mutation_p.E77G	92	GBM-06-5408-TP	p.E77G	A	AAGCCGGAAGAGAAGGATTCT	NM_152381	NP_689594	167760222	A4UGR9	XIRP2_HUMAN	0			1	248	+	G	G			Missense_Mutation	Error:Variant_position_missing_in_A4UGR9_after_alignment						
XIRP2	0	broad.mit.edu	GRCh37	2	168106391	168106391	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409195.1:c.8489G>A	p.Arg2830Gln	p.R2830Q	ENST00000409195	NM_152381.5	2830	cGa/cAa	0	A:0.0003		1			A	R/Q	uc002udx.2	protein_coding	YES	CCDS42769.1			8489/10650									skin(7)|ovary(6)|pancreas(1)	14	c.(8488-8490)CGA>CAA			hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	xin actin-binding repeat containing 2 isoform 1			A:0	ENSP00000386840		11-Sep	8.28E-06							6.09E-05	rs368268974,COSM1400953	11-Sep	.		ENST00000409195	Transcript			actin cytoskeleton organization	cell junction	actin binding	ENSG00000163092	g.chr2:168106391G>A	14303			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=XIRP2_HUMAN&rb=1694&re=3372&var=R2655Q	NA	getma.org/?cm=var&var=hg19,2,168106391,G,A&fts=all	R2655Q	--	--	1																																		XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R2655Q|XIRP2_uc010fpq.2_Missense_Mutation_p.R2608Q|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.R176Q	0,1	1		benign(0.145)	p.R2830Q	NM_152381	NP_689594			0,1		XIRP2	HGNC	A4UGR9	XIRP2_HUMAN			J3KNB1_HUMAN		8	8507	+			UPI0000E9BBED	2655					SNV	XIRP2,missense_variant,p.Arg2830Gln,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Arg2830Gln,ENST00000295237,;XIRP2,missense_variant,p.Arg2608Gln,ENST00000409273,NM_001199144.1;XIRP2,intron_variant,,ENST00000409728,NM_001199143.1;XIRP2,intron_variant,,ENST00000409043,NM_001079810.3;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409605,NM_001199145.1;	uc002udx.2	c.8489G>A	8578/12675	1	1			c.8489G>A						2	SNP	c.(8488-8490)CGA>CAA	64	64			skin(7)|ovary(6)|pancreas(1)	14	Broad	xin actin-binding repeat containing 2 isoform 1			168106391		0.398	ENSG00000163092	17174	g.chr2:168106391G>A	actin cytoskeleton organization	cell junction	actin binding							79.765733	KEEP	16	14	-1	37	33	16	14	-1	83.646618	37	33	0.28866	1	0	0	0	0	1	0	0	0	--	--		0	A			XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R2655Q|XIRP2_uc010fpq.2_Missense_Mutation_p.R2608Q|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.R176Q	159	GBM-19-1390-TP	p.R2830Q	G	ATGATTGGTCGAAAAGAAGAG	NM_152381	NP_689594	168106391	A4UGR9	XIRP2_HUMAN	0			8	8507	+	A	A			Missense_Mutation	2655						
XIRP2	0	broad.mit.edu	GRCh37	2	168105145	168105145	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-41-2572-01	TCGA-41-2572-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409195.1:c.7243A>G	p.Lys2415Glu	p.K2415E	ENST00000409195	NM_152381.5	2415	Aaa/Gaa	0			1			G	K/E	uc002udx.2	protein_coding	YES	CCDS42769.1			7243/10650									skin(7)|ovary(6)|pancreas(1)	14	c.(7243-7245)AAA>GAA			hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	xin actin-binding repeat containing 2 isoform 1				ENSP00000386840		11-Sep									COSM3407025	11-Sep	.		ENST00000409195	Transcript			actin cytoskeleton organization	cell junction	actin binding	ENSG00000163092	g.chr2:168105145A>G	14303			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=XIRP2_HUMAN&rb=1694&re=3372&var=K2240E	NA	getma.org/?cm=var&var=hg19,2,168105145,A,G&fts=all	K2240E	--	--	1																																		XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.K2240E|XIRP2_uc010fpq.2_Missense_Mutation_p.K2193E|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	1	1		probably_damaging(0.99)	p.K2415E	NM_152381	NP_689594			1		XIRP2	HGNC	A4UGR9	XIRP2_HUMAN			J3KNB1_HUMAN		8	7261	+			UPI0000E9BBED	2240					SNV	XIRP2,missense_variant,p.Lys2415Glu,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Lys2415Glu,ENST00000295237,;XIRP2,missense_variant,p.Lys2193Glu,ENST00000409273,NM_001199144.1;XIRP2,intron_variant,,ENST00000409728,NM_001199143.1;XIRP2,intron_variant,,ENST00000409043,NM_001079810.3;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409605,NM_001199145.1;	uc002udx.2	c.7243A>G	7332/12675	3	3			c.7243A>G						2	SNP	c.(7243-7245)AAA>GAA	4	4			skin(7)|ovary(6)|pancreas(1)	14	Broad	xin actin-binding repeat containing 2 isoform 1			168105145		0.438	ENSG00000163092	17174	g.chr2:168105145A>G	actin cytoskeleton organization	cell junction	actin binding							302.34321	KEEP	47	43	-1	65	52	47	43	-1	302.956042	65	52	0.438503	1	0	0	0	0	1	0	0	0	--	--		0	G			XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.K2240E|XIRP2_uc010fpq.2_Missense_Mutation_p.K2193E|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	251	GBM-41-2572-TP	p.K2415E	A	CATAACAGGAAAAACCGGTGT	NM_152381	NP_689594	168105145	A4UGR9	XIRP2_HUMAN	0			8	7261	+	G	G			Missense_Mutation	2240						
XIRP2	0	broad.mit.edu	GRCh37	2	168100110	168100110	+	synonymous_variant	Silent	SNP	C	C	T	rs76149079	byFrequency;by1000genomes	TCGA-81-5910-01	TCGA-81-5910-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409195.1:c.2208C>T	p.Phe736=	p.F736=	ENST00000409195	NM_152381.5	736	ttC/ttT	0	T:0.0092	T:0.0136	1	T:0		T	F	uc002udx.2	protein_coding	YES	CCDS42769.1			2208/10650									skin(7)|ovary(6)|pancreas(1)	14	c.(2206-2208)TTC>TTT			PROSITE_profiles:PS51389,hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1	xin actin-binding repeat containing 2 isoform 1		T:0	T:0	ENSP00000386840	T:0	11-Sep	0.000869	0.0101	0.000261	0.000117		6.06E-05			rs76149079,COSM1325778	11-Sep	common_variant		ENST00000409195	Transcript		T:0.0036	actin cytoskeleton organization	cell junction	actin binding	ENSG00000163092	g.chr2:168100110C>T	14303			LOW								--	--	1																																		XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.F561F|XIRP2_uc010fpq.2_Silent_p.F514F|XIRP2_uc010fpr.2_Intron	0,1	1			p.F736F	NM_152381	NP_689594	T:0		0,1		XIRP2	HGNC	A4UGR9	XIRP2_HUMAN			J3KNB1_HUMAN		8	2226	+			UPI0000E9BBED	561			Xin 6.		SNV	XIRP2,synonymous_variant,p.=,ENST00000409195,NM_152381.5;XIRP2,synonymous_variant,p.=,ENST00000295237,;XIRP2,synonymous_variant,p.=,ENST00000409273,NM_001199144.1;XIRP2,intron_variant,,ENST00000409728,NM_001199143.1;XIRP2,intron_variant,,ENST00000409043,NM_001079810.3;XIRP2,intron_variant,,ENST00000409756,;XIRP2,intron_variant,,ENST00000420519,;XIRP2,intron_variant,,ENST00000409605,NM_001199145.1;	uc002udx.2	c.2208C>T	2297/12675	2	2			c.2208C>T						2	SNP	c.(2206-2208)TTC>TTT	18	18			skin(7)|ovary(6)|pancreas(1)	14	Broad	xin actin-binding repeat containing 2 isoform 1			168100110		0.368	ENSG00000163092	17174	g.chr2:168100110C>T	actin cytoskeleton organization	cell junction	actin binding							87.990899	KEEP	12	15	-1	10	18	12	15	-1	87.997327	10	18	0.509434	1	0	0	0	0	0	0	1	0	--	--		0	T			XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.F561F|XIRP2_uc010fpq.2_Silent_p.F514F|XIRP2_uc010fpr.2_Intron	289	GBM-81-5910-TP	p.F736F	C	TAAAATGTTTCGAAACTCAAC	NM_152381	NP_689594	168100110	A4UGR9	XIRP2_HUMAN	0			8	2226	+	T	T			Silent	561			Xin 6.			
XIRP2	129446		GRCh37	2	168103045	168103045	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000409195.1:c.5143C>T	p.Arg1715Cys	p.R1715C	ENST00000409195	NM_152381.5	1715	Cgt/Tgt	0																																																																																																																																																																																																																																												
XK	0	broad.mit.edu	GRCh37	X	37587132	37587133	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C			TCGA-12-3653-01	TCGA-12-3653-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378616.3:c.756dupC	p.Trp253LeufsTer13	p.W253Lfs*13	ENST00000378616	NM_021083.2	251	tac/taCc	0			1			C	Y/YX	uc004ddq.2	protein_coding	YES	CCDS14241.1			752-753/1335										0	c.(751-753)TACfs			Pfam_domain:PF09815,hmmpanther:PTHR14297,hmmpanther:PTHR14297:SF8,Transmembrane_helices:TMhelix	membrane transport protein XK				ENSP00000367879		3-Mar										3-Mar	.		ENST00000378616	Transcript	1		amino acid transport	integral to membrane	protein binding|transporter activity	ENSG00000047597	g.chrX:37587132_37587133insC	12811	4		HIGH								--	--	1																																				1			p.Y251fs	NM_021083	NP_066569				XK_HUMAN	XK	HGNC	P51811	XK_HUMAN			Q2Z218_HUMAN		3	834_835	+		all_lung(315;0.175)	UPI0000139000	251			Helical; (Potential).		insertion	XK,frameshift_variant,p.Trp253LeufsTer13,ENST00000378616,NM_021083.2;TM4SF2,intron_variant,,ENST00000465127,;	uc004ddq.2	c.752_753insC	955-956/5206	5	5			c.752_753insC						23	INS	c.(751-753)TACfs	16	16				0	Broad	membrane transport protein XK			37587133		0.485	ENSG00000047597	17175	g.chrX:37587132_37587133insC	amino acid transport	integral to membrane	protein binding|transporter activity																				0.34	1	0	0	1	1	0	0	0	0	--	--		0	C				128	GBM-12-3653-TP	p.Y251fs	-	TTCTTCTTGTACCCCTGGATCC	NM_021083	NP_066569	37587132	P51811	XK_HUMAN	0			3	834_835	+	C	C		all_lung(315;0.175)	Frame_Shift_Ins	251			Helical; (Potential).			
XKR4	114786	broad.mit.edu	GRCh37	8	56436491	56436491	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01	TCGA-06-5408-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327381.6:c.1658G>A	p.Arg553His	p.R553H	ENST00000327381	NM_052898.1	553	cGc/cAc	0			1			A	R/H	uc003xsf.2	protein_coding	YES	CCDS34893.1			1658/1953									pancreas(2)	2	c.(1657-1659)CGC>CAC			hmmpanther:PTHR32129:SF14,hmmpanther:PTHR32129	XK, Kell blood group complex subunit-related				ENSP00000328326		3-Mar									COSM3413070	3-Mar	.		ENST00000327381	Transcript				integral to membrane		ENSG00000206579	g.chr8:56436491G>A	29394			MODERATE		1.28	low	getma.org/?cm=msa&ty=f&p=XKR4_HUMAN&rb=517&re=650&var=R553H	NA	getma.org/?cm=var&var=hg19,8,56436491,G,A&fts=all	R553H	--	--	1																																			1	1		possibly_damaging(0.572)	p.R553H	NM_052898	NP_443130		tolerated(0.06)	1	XKR4_HUMAN	XKR4	HGNC	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)				3	1690	+			UPI000016098C	553					SNV	XKR4,missense_variant,p.Arg553His,ENST00000327381,NM_052898.1;RP11-628E19.2,upstream_gene_variant,,ENST00000522918,;XKR4,upstream_gene_variant,,ENST00000518261,;	uc003xsf.2	c.1658G>A	1758/19880	1	1			c.1658G>A						8	SNP	c.(1657-1659)CGC>CAC	62	62			pancreas(2)	2	Broad	XK, Kell blood group complex subunit-related			56436491		0.592	ENSG00000206579	17177	g.chr8:56436491G>A		integral to membrane								-6.846496	KEEP	4	1	-1	34	49	4	1	-1	8.105538	34	49	0.055556	1	0	0	0	0	1	0	0	0	--	--		0	A				92	GBM-06-5408-TP	p.R553H	G	TCCAACAACCGCAGTGTTGTC	NM_052898	NP_443130	56436491	Q5GH76	XKR4_HUMAN	0	Epithelial(17;0.000117)|all cancers(17;0.000836)		3	1690	+	A	A			Missense_Mutation	553						
XKR4	0	broad.mit.edu	GRCh37	8	56270319	56270319	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-32-2615-01	TCGA-32-2615-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327381.6:c.888A>G	p.Val296=	p.V296=	ENST00000327381	NM_052898.1	296	gtA/gtG	0			1			G	V	uc003xsf.2	protein_coding	YES	CCDS34893.1			888/1953									pancreas(2)	2	c.(886-888)GTA>GTG			Pfam_domain:PF09815,hmmpanther:PTHR32129:SF14,hmmpanther:PTHR32129	XK, Kell blood group complex subunit-related				ENSP00000328326		3-Feb									COSM3413069	3-Feb	.		ENST00000327381	Transcript				integral to membrane		ENSG00000206579	g.chr8:56270319A>G	29394			LOW								--	--	1																																			1	1			p.V296V	NM_052898	NP_443130			1	XKR4_HUMAN	XKR4	HGNC	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)				2	920	+			UPI000016098C	296					SNV	XKR4,synonymous_variant,p.=,ENST00000327381,NM_052898.1;	uc003xsf.2	c.888A>G	988/19880	4	4			c.888A>G						8	SNP	c.(886-888)GTA>GTG	29	29			pancreas(2)	2	Broad	XK, Kell blood group complex subunit-related			56270319		0.438	ENSG00000206579	17177	g.chr8:56270319A>G		integral to membrane								51.660205	KEEP	16	8	-1	83	54	16	8	-1	68.03753	83	54	0.153846	1	0	0	0	0	0	0	1	0	--	--		0	G				239	GBM-32-2615-TP	p.V296V	A	GGAAAATGGTATATGAGTATG	NM_052898	NP_443130	56270319	Q5GH76	XKR4_HUMAN	0	Epithelial(17;0.000117)|all cancers(17;0.000836)		2	920	+	G	G			Silent	296						
XKR5	0	broad.mit.edu	GRCh37	8	6681094	6681094	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	A			TCGA-14-0871-01	TCGA-14-0871-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000518724.1:n.737A>T		*246*	ENST00000518724				0			1			A		uc003wqp.2	processed_transcript	YES														0	c.(586-588)AGT>TGT				XK-related protein 5a						7-Apr									COSM3413085	7-Apr	.		ENST00000518724	Transcript				integral to membrane		ENSG00000186530	g.chr8:6681094T>A	20782			MODIFIER								--	--	1																																		XKR5_uc003wqq.2_Missense_Mutation_p.S33C|XKR5_uc003wqr.1_RNA	1	1			p.S196C	NM_207411	NP_997294			1		XKR5	HGNC	Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)			4	608	-				196					SNV	XKR5,non_coding_transcript_exon_variant,,ENST00000518724,;XKR5,non_coding_transcript_exon_variant,,ENST00000409172,;XKR5,non_coding_transcript_exon_variant,,ENST00000405979,;	uc003wqp.2	c.586A>T	737/4894	1	1			c.586A>T						8	SNP	c.(586-588)AGT>TGT	64	64				0	Broad	XK-related protein 5a			6681094		0.483	ENSG00000186530	17178	g.chr8:6681094T>A		integral to membrane								11.361261	KEEP	3	2	-1	9	10	3	2	-1	13.252377	9	10	0.208333	1	0	0	0	0	1	0	0	0	--	--		0	A			XKR5_uc003wqq.2_Missense_Mutation_p.S33C|XKR5_uc003wqr.1_RNA	141	GBM-14-0871-TP	p.S196C	T	AGAACCAGACTCAGCACGCGG	NM_207411	NP_997294	6681094	Q6UX68	XKR5_HUMAN	0	STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)	4	608	-	A	A			Missense_Mutation	196						
XKR7	343702	broad.mit.edu	GRCh37	20	30584453	30584453	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0122-01	TCGA-06-0122-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000562532.2:c.933C>T	p.Ala311=	p.A311=	ENST00000562532	NM_001011718.1	311	gcC/gcT	0			1			T	A	uc002wxe.2	protein_coding	YES	CCDS33459.1			933/1740									ovary(1)|breast(1)|skin(1)	3	c.(931-933)GCC>GCT			hmmpanther:PTHR32129,hmmpanther:PTHR32129:SF9,Pfam_domain:PF09815	XK, Kell blood group complex subunit-related				ENSP00000477059		3-Mar	8.24E-06			0.000117					rs766713662,COSM2149168	3-Mar	.		ENST00000562532	Transcript				integral to membrane		ENSG00000260903	g.chr20:30584453C>T	23062			LOW								--	--	1																																			0,1	1			p.A311A	NM_001011718	NP_001011718			0,1	XKR7_HUMAN	XKR7	HGNC	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)				3	1107	+			UPI00004C7A9E	311					SNV	XKR7,synonymous_variant,p.=,ENST00000562532,NM_001011718.1;	uc002wxe.2	c.933C>T	1107/7844	1	1			c.933C>T						20	SNP	c.(931-933)GCC>GCT	13	13			ovary(1)|breast(1)|skin(1)	3	Broad	XK, Kell blood group complex subunit-related			30584453		0.637	ENSG00000260903	17180	g.chr20:30584453C>T		integral to membrane								65.991984	KEEP	13	16	-1	55	33	13	16	-1	72.983881	55	33	0.236364	1	0	0	0	0	0	0	1	0	--	--		0	T				10	GBM-06-0122-TP	p.A311A	C	TCAGCATTGCCGCCCGCGGCC	NM_001011718	NP_001011718	30584453	Q5GH72	XKR7_HUMAN	0	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	1107	+	T	T			Silent	311						
XKR7	343702	broad.mit.edu	GRCh37	20	30585031	30585031	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000562532.2:c.1511G>A	p.Arg504Gln	p.R504Q	ENST00000562532	NM_001011718.1	504	cGg/cAg	0	A:0		1			A	R/Q	uc002wxe.2	protein_coding	YES	CCDS33459.1			1511/1740									ovary(1)|breast(1)|skin(1)	3	c.(1510-1512)CGG>CAG			hmmpanther:PTHR32129,hmmpanther:PTHR32129:SF9	XK, Kell blood group complex subunit-related			A:0.0001	ENSP00000477059		3-Mar	1.65E-05					3.10E-05			rs371180407,COSM2149380	3-Mar	.		ENST00000562532	Transcript				integral to membrane		ENSG00000260903	g.chr20:30585031G>A	23062			MODERATE		2.265	medium	getma.org/?cm=msa&ty=f&p=XKR7_HUMAN&rb=443&re=579&var=R504Q	NA	getma.org/?cm=var&var=hg19,20,30585031,G,A&fts=all	R504Q	--	--	1																																			0,1	1		probably_damaging(0.999)	p.R504Q	NM_001011718	NP_001011718		deleterious(0)	0,1	XKR7_HUMAN	XKR7	HGNC	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)				3	1685	+			UPI00004C7A9E	504					SNV	XKR7,missense_variant,p.Arg504Gln,ENST00000562532,NM_001011718.1;	uc002wxe.2	c.1511G>A	1685/7844	2	2			c.1511G>A						20	SNP	c.(1510-1512)CGG>CAG	37	37			ovary(1)|breast(1)|skin(1)	3	Broad	XK, Kell blood group complex subunit-related			30585031		0.677	ENSG00000260903	17180	g.chr20:30585031G>A		integral to membrane								123.280515	KEEP	24	24	-1	54	56	24	24	-1	126.70727	54	56	0.328244	1	0	0	0	0	1	0	0	0	--	--		0	A				12	GBM-06-0125-TP	p.R504Q	G	TTCCAGGTGCGGCCTGGCTTG	NM_001011718	NP_001011718	30585031	Q5GH72	XKR7_HUMAN	0	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	1685	+	A	A			Missense_Mutation	504						
XKR7	0	broad.mit.edu	GRCh37	20	30584473	30584473	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01	TCGA-27-1830-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000562532.2:c.953C>T	p.Ala318Val	p.A318V	ENST00000562532	NM_001011718.1	318	gCg/gTg	0			1			T	A/V	uc002wxe.2	protein_coding	YES	CCDS33459.1			953/1740									ovary(1)|breast(1)|skin(1)	3	c.(952-954)GCG>GTG			hmmpanther:PTHR32129,hmmpanther:PTHR32129:SF9,Pfam_domain:PF09815	XK, Kell blood group complex subunit-related				ENSP00000477059		3-Mar	8.24E-06					1.55E-05			rs758370039,COSM3405006	3-Mar	.		ENST00000562532	Transcript				integral to membrane		ENSG00000260903	g.chr20:30584473C>T	23062			MODERATE		1.56	low	getma.org/?cm=msa&ty=f&p=XKR7_HUMAN&rb=56&re=442&var=A318V	NA	getma.org/?cm=var&var=hg19,20,30584473,C,T&fts=all	A318V	--	--	1																																			0,1	1		probably_damaging(0.995)	p.A318V	NM_001011718	NP_001011718		deleterious(0.05)	0,1	XKR7_HUMAN	XKR7	HGNC	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)				3	1127	+			UPI00004C7A9E	318			Helical; (Potential).		SNV	XKR7,missense_variant,p.Ala318Val,ENST00000562532,NM_001011718.1;	uc002wxe.2	c.953C>T	1127/7844	2	2			c.953C>T						20	SNP	c.(952-954)GCG>GTG	43	43			ovary(1)|breast(1)|skin(1)	3	Broad	XK, Kell blood group complex subunit-related			30584473		0.637	ENSG00000260903	17180	g.chr20:30584473C>T		integral to membrane								53.122107	KEEP	14	13	-1	38	34	14	13	-1	57.593939	38	34	0.258824	1	0	0	0	0	1	0	0	0	--	--		0	T				189	GBM-27-1830-TP	p.A318V	C	CTGGCCTTCGCGCTCTTCGCC	NM_001011718	NP_001011718	30584473	Q5GH72	XKR7_HUMAN	0	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	1127	+	T	T			Missense_Mutation	318			Helical; (Potential).			
XKR9	389668	broad.mit.edu	GRCh37	8	71593354	71593354	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-5417-01	TCGA-06-5417-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408926.3:c.61G>T	p.Asp21Tyr	p.D21Y	ENST00000408926	NM_001011720.1	21	Gat/Tat	0			1			T	D/Y	uc003xyq.2	protein_coding	YES	CCDS34905.1			61/1122									ovary(1)|skin(1)	2	c.(61-63)GAT>TAT			Transmembrane_helices:TMhelix,hmmpanther:PTHR32129:SF6,hmmpanther:PTHR32129,Pfam_domain:PF09815	XK, Kell blood group complex subunit-related				ENSP00000386141		5-Mar									COSM2153266	5-Mar	.		ENST00000408926	Transcript				integral to membrane		ENSG00000221947	g.chr8:71593354G>T	20937			MODERATE		2.69	medium	getma.org/?cm=msa&ty=f&p=XKR9_HUMAN&rb=7&re=346&var=D21Y	NA	getma.org/?cm=var&var=hg19,8,71593354,G,T&fts=all	D21Y	--	--	1																																		XKR9_uc010lze.2_Missense_Mutation_p.D21Y|XKR9_uc010lzd.2_5'UTR	1	1		probably_damaging(1)	p.D21Y	NM_001011720	NP_001011720		deleterious(0)	1	XKR9_HUMAN	XKR9	HGNC	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		E5RFF6_HUMAN		3	595	+	Breast(64;0.0716)		UPI00004C7A9F	21			Helical; (Potential).		SNV	XKR9,missense_variant,p.Asp21Tyr,ENST00000408926,NM_001011720.1,NM_001287260.1,NM_001287259.1;XKR9,missense_variant,p.Asp21Tyr,ENST00000520030,;XKR9,missense_variant,p.Asp21Tyr,ENST00000519350,;XKR9,intron_variant,,ENST00000520273,;XKR9,missense_variant,p.Asp21Tyr,ENST00000520092,;	uc003xyq.2	c.61G>T	595/3174	1	1			c.61G>T						8	SNP	c.(61-63)GAT>TAT	3	3			ovary(1)|skin(1)	2	Broad	XK, Kell blood group complex subunit-related			71593354		0.318	ENSG00000221947	17182	g.chr8:71593354G>T		integral to membrane								491.938013	KEEP	86	83	0.50887574	115	106	86	83	0.50887574	493.223099	115	106	0.437333	1	0	0	0	0	1	0	0	0	--	--		0	T			XKR9_uc010lze.2_Missense_Mutation_p.D21Y|XKR9_uc010lzd.2_5'UTR	99	GBM-06-5417-TP	p.D21Y	G	CTACGTAACTGATTTAATTGT	NM_001011720	NP_001011720	71593354	Q5GH70	XKR9_HUMAN	0	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		3	595	+	T	T	Breast(64;0.0716)		Missense_Mutation	21			Helical; (Potential).			
XKR9	0	broad.mit.edu	GRCh37	8	71646034	71646034	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs140711820		TCGA-12-3649-01	TCGA-12-3649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000408926.3:c.497C>T	p.Ala166Val	p.A166V	ENST00000408926	NM_001011720.1	166	gCg/gTg	0	T:0	T:0	1	T:0		T	A/V	uc003xyq.2	protein_coding	YES	CCDS34905.1			497/1122									ovary(1)|skin(1)	2	c.(496-498)GCG>GTG			hmmpanther:PTHR32129:SF6,hmmpanther:PTHR32129,Pfam_domain:PF09815	XK, Kell blood group complex subunit-related		T:0	T:0.0001	ENSP00000386141	T:0	5-May	0.000107		9.42E-05			6.89E-05		0.000726	rs140711820,COSM3413107	5-May	common_variant		ENST00000408926	Transcript		T:0.0002		integral to membrane		ENSG00000221947	g.chr8:71646034C>T	20937			MODERATE		1.22	low	getma.org/?cm=msa&ty=f&p=XKR9_HUMAN&rb=7&re=346&var=A166V	NA	getma.org/?cm=var&var=hg19,8,71646034,C,T&fts=all	A166V	--	--	1																																		XKR9_uc010lze.2_Missense_Mutation_p.A166V|XKR9_uc010lzd.2_Missense_Mutation_p.A34V	0,1	1		benign(0.131)	p.A166V	NM_001011720	NP_001011720	T:0.001	tolerated(0.18)	0,1	XKR9_HUMAN	XKR9	HGNC	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		E5RFF6_HUMAN		5	1031	+	Breast(64;0.0716)		UPI00004C7A9F	166			Helical; (Potential).		SNV	XKR9,missense_variant,p.Ala166Val,ENST00000408926,NM_001011720.1,NM_001287260.1,NM_001287259.1;XKR9,missense_variant,p.Ala166Val,ENST00000520030,;XKR9,intron_variant,,ENST00000520273,;XKR9,3_prime_UTR_variant,,ENST00000520092,;	uc003xyq.2	c.497C>T	1031/3174	1	1			c.497C>T						8	SNP	c.(496-498)GCG>GTG	4	4			ovary(1)|skin(1)	2	Broad	XK, Kell blood group complex subunit-related			71646034		0.274	ENSG00000221947	17182	g.chr8:71646034C>T		integral to membrane								77.102613	KEEP	13	16	-1	29	18	13	16	-1	78.190414	29	18	0.369863	1	0	0	0	0	1	0	0	0	--	--		0	T			XKR9_uc010lze.2_Missense_Mutation_p.A166V|XKR9_uc010lzd.2_Missense_Mutation_p.A34V	125	GBM-12-3649-TP	p.A166V	C	TTTGTAGATGCGGCCATCATG	NM_001011720	NP_001011720	71646034	Q5GH70	XKR9_HUMAN	0	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		5	1031	+	T	T	Breast(64;0.0716)		Missense_Mutation	166			Helical; (Potential).			
XKRX	0	broad.mit.edu	GRCh37	X	100169504	100169504	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-41-3392-01	TCGA-41-3392-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372956.2:c.1173T>C	p.Tyr391=	p.Y391=	ENST00000372956		391	taT/taC	0			1			G	Y	uc004egn.2	protein_coding	YES	CCDS14476.2			1173/1350									breast(1)	1	c.(1171-1173)TAT>TAC			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR14297:SF4,hmmpanther:PTHR14297,Pfam_domain:PF09815	XK, Kell blood group complex subunit-related,				ENSP00000362047		3-Mar									COSM3405769	3-Mar	.		ENST00000372956	Transcript				integral to membrane|plasma membrane		ENSG00000182489	g.chrX:100169504A>G	29845			LOW								--	--	1																																		XKRX_uc011mre.1_Silent_p.Y187Y	1	1			p.Y391Y	NM_212559	NP_997724			1	XKR2_HUMAN	XKRX	HGNC	Q6PP77	XKR2_HUMAN					3	1778	-			UPI00001A7F30	391			Helical; (Potential).		SNV	XKRX,synonymous_variant,p.=,ENST00000328526,NM_212559.2;XKRX,synonymous_variant,p.=,ENST00000372956,;XKRX,3_prime_UTR_variant,,ENST00000468904,;LL0XNC01-131B10.2,downstream_gene_variant,,ENST00000447373,;	uc004egn.2	c.1173T>C	1778/2848	4	4			c.1173T>C						23	SNP	c.(1171-1173)TAT>TAC	28	28			breast(1)	1	Broad	XK, Kell blood group complex subunit-related,			100169504		0.403	ENSG00000182489	17183	g.chrX:100169504A>G		integral to membrane|plasma membrane								-15.221512	KEEP	4	1	-1	67	52	4	1	-1	11.304134	67	52	0.042373	1	0	0	0	0	0	0	1	0	--	--		0	G			XKRX_uc011mre.1_Silent_p.Y187Y	254	GBM-41-3392-TP	p.Y391Y	A	TGGAAATCAGATAAGCAATAA	NM_212559	NP_997724	100169504	Q6PP77	XKR2_HUMAN	0			3	1778	-	G	G			Silent	391			Helical; (Potential).			
XPNPEP2	0	broad.mit.edu	GRCh37	X	128887224	128887224	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T			TCGA-16-1045-01	TCGA-16-1045-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371106.3:c.1107C>T	p.His369=	p.H369=	ENST00000371106	NM_003399.5	369	caC/caT	0			1			T	H	uc004eut.1	protein_coding	YES	CCDS14613.1			1107/2025										0	c.(1105-1107)CAC>CAT			Gene3D:3.90.230.10,hmmpanther:PTHR10804,hmmpanther:PTHR10804:SF84,Superfamily_domains:SSF55920	X-prolyl aminopeptidase 2, membrane-bound				ENSP00000360147		21-Nov	1.65E-05					4.18E-05			rs776918670,COSM3405949	21-Nov	.		ENST00000371106	Transcript	1		cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	ENSG00000122121	g.chrX:128887224C>T	12823			LOW								--	--	1																																			0,1	1			p.H369H	NM_003399	NP_003390			0,1	XPP2_HUMAN	XPNPEP2	HGNC	O43895	XPP2_HUMAN					11	1351	+			UPI000013901A	369					SNV	XPNPEP2,splice_region_variant,p.=,ENST00000371106,NM_003399.5;	uc004eut.1	c.1107C>T	1299/3270	2	2			c.1107C>T						23	SNP	c.(1105-1107)CAC>CAT	20	20				0	Broad	X-prolyl aminopeptidase 2, membrane-bound			128887224		0.537	ENSG00000122121	17187	g.chrX:128887224C>T	cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity							45.010391	KEEP	13	17	-1	100	101	13	17	-1	71.529648	100	101	0.133005	1	0	0	0	0	0	0	1	0	--	--		0	T				157	GBM-16-1045-TP	p.H369H	C	AGGCCAGCCACGTAAGTCCAC	NM_003399	NP_003390	128887224	O43895	XPP2_HUMAN	0			11	1351	+	T	T			Silent	369						
XPNPEP2	7512		GRCh37	X	128890500	128890500	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000371106.3:c.1336A>C	p.Met446Leu	p.M446L	ENST00000371106	NM_003399.5	446	Atg/Ctg	0																																																																																																																																																																																																																																												
XPO4	0	broad.mit.edu	GRCh37	13	21362729	21362729	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-32-2638-01	TCGA-32-2638-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255305.6:c.2943delC	p.Tyr981Ter	p.Y981*	ENST00000255305		981	taC/ta	0			1			-	Y/X	uc001unq.3	protein_coding	YES	CCDS41872.1			2943/3456									large_intestine(1)|ovary(1)|kidney(1)	3	c.(2941-2943)TACfs			hmmpanther:PTHR12596:SF1,hmmpanther:PTHR12596,Pfam_domain:PF08767,Gene3D:1.25.10.10,Superfamily_domains:SSF48371	exportin 4				ENSP00000255305		20/23										20/23	.		ENST00000255305	Transcript			protein transport	cytoplasm|nucleus	protein binding	ENSG00000132953	g.chr13:21362729delG	17796			HIGH								--	--	1																																				1			p.Y981fs	NM_022459	NP_071904				XPO4_HUMAN	XPO4	HGNC	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	Q8IVQ8_HUMAN,Q0VG75_HUMAN		20	2979	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	UPI0000139018	981					deletion	XPO4,frameshift_variant,p.Tyr981Ter,ENST00000400602,NM_022459.4;XPO4,frameshift_variant,p.Tyr981Ter,ENST00000255305,;	uc001unq.3	c.2943delC	3015/8375	5	5			c.2943delC						13	DEL	c.(2941-2943)TACfs	9	9			large_intestine(1)|ovary(1)|kidney(1)	3	Broad	exportin 4			21362729		0.299	ENSG00000132953	17190	g.chr13:21362729delG	protein transport	cytoplasm|nucleus	protein binding			353			353														0.34	1	1	0	1	0	0	0	0	0	--	--		0	-				242	GBM-32-2638-TP	p.Y981fs	G	TGATTAATTTGTAGTACTGAT	NM_022459	NP_071904	21362729	Q9C0E2	XPO4_HUMAN	0		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	20	2979	-	-	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	Frame_Shift_Del	981						
XRCC1	7515	broad.mit.edu	GRCh37	19	44055781	44055781	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs2271980		TCGA-06-0209-01	TCGA-06-0209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262887.5:c.1141G>A	p.Val381Met	p.V381M	ENST00000262887		381	Gtg/Atg	0			1			T	V/M	uc002owt.2	protein_coding	YES	CCDS12624.1			1141/1902									ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1)	7	c.(1141-1143)GTG>ATG		Other_BER_factors	PROSITE_profiles:PS50172,hmmpanther:PTHR11370,hmmpanther:PTHR11370:SF1,Pfam_domain:PF00533,Gene3D:3.40.50.10190,SMART_domains:SM00292,Superfamily_domains:SSF52113	X-ray repair cross complementing protein 1				ENSP00000262887		17-Oct	4.94E-05			0.000695					rs2271980,COSM3404348	17-Oct	common_variant		ENST00000262887	Transcript			base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding	ENSG00000073050	g.chr19:44055781C>T	12828			MODERATE		2.15	medium	getma.org/?cm=msa&ty=f&p=XRCC1_HUMAN&rb=315&re=390&var=V381M	getma.org/pdb.php?prot=XRCC1_HUMAN&from=315&to=390&var=V381M	getma.org/?cm=var&var=hg19,19,44055781,C,T&fts=all	V381M	--	--	1																																		XRCC1_uc010xwp.1_Missense_Mutation_p.V350M	0,1	1		probably_damaging(1)	p.V381M	NM_006297	NP_006288		deleterious(0)	0,1	XRCC1_HUMAN	XRCC1	HGNC	P18887	XRCC1_HUMAN			M4WFF9_HUMAN		10	1261	-		Prostate(69;0.0153)	UPI000013D351	381			BRCT 1.		SNV	XRCC1,missense_variant,p.Val381Met,ENST00000262887,;XRCC1,missense_variant,p.Val350Met,ENST00000543982,NM_006297.2;XRCC1,downstream_gene_variant,,ENST00000598165,;XRCC1,downstream_gene_variant,,ENST00000599693,;XRCC1,downstream_gene_variant,,ENST00000594107,;L34079.2,downstream_gene_variant,,ENST00000594374,;L34079.3,upstream_gene_variant,,ENST00000597119,;XRCC1,3_prime_UTR_variant,,ENST00000597811,;XRCC1,downstream_gene_variant,,ENST00000595789,;XRCC1,downstream_gene_variant,,ENST00000598422,;	uc002owt.2	c.1141G>A	1689/2802	2	2			c.1141G>A						19	SNP	c.(1141-1143)GTG>ATG	33	33			ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1)	7	Broad	X-ray repair cross complementing protein 1	Other_BER_factors		44055781		0.622	ENSG00000073050	17196	g.chr19:44055781C>T	base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding							101.8133	KEEP	26	26	-1	96	113	26	26	-1	120.261841	96	113	0.20354	1	0	0	0	0	1	0	0	0	--	--		0	T			XRCC1_uc010xwp.1_Missense_Mutation_p.V350M	46	GBM-06-0209-TP	p.V381M	C	TCCTTACGCACGATGCGGCCT	NM_006297	NP_006288	44055781	P18887	XRCC1_HUMAN	0			10	1261	-	T	T		Prostate(69;0.0153)	Missense_Mutation	381			BRCT 1.			
XRCC1	0	broad.mit.edu	GRCh37	19	44057610	44057610	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01	TCGA-19-2623-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262887.5:c.544G>A	p.Ala182Thr	p.A182T	ENST00000262887		182	Gcc/Acc	0		T:0	1	T:0		T	A/T	uc002owt.2	protein_coding	YES	CCDS12624.1			544/1902									ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1)	7	c.(544-546)GCC>ACC		Other_BER_factors	hmmpanther:PTHR11370,hmmpanther:PTHR11370:SF1	X-ray repair cross complementing protein 1		T:0.001		ENSP00000262887	T:0	17-Jun	5.77E-05		0.000518	0.000116					rs190563109,COSM3404349	17-Jun	common_variant		ENST00000262887	Transcript		T:0.0002	base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding	ENSG00000073050	g.chr19:44057610C>T	12828			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=XRCC1_HUMAN&rb=152&re=314&var=A182T	NA	getma.org/?cm=var&var=hg19,19,44057610,C,T&fts=all	A182T	--	--	1																																		XRCC1_uc010xwp.1_Missense_Mutation_p.A151T	0,1	1		benign(0.012)	p.A182T	NM_006297	NP_006288	T:0	tolerated(0.39)	0,1	XRCC1_HUMAN	XRCC1	HGNC	P18887	XRCC1_HUMAN			M4WFF9_HUMAN		6	664	-		Prostate(69;0.0153)	UPI000013D351	182					SNV	XRCC1,missense_variant,p.Ala182Thr,ENST00000262887,;XRCC1,missense_variant,p.Ala151Thr,ENST00000543982,NM_006297.2;XRCC1,missense_variant,p.Ala189Thr,ENST00000598165,;XRCC1,missense_variant,p.Ala158Thr,ENST00000599693,;XRCC1,missense_variant,p.Ala145Thr,ENST00000594107,;L34079.2,downstream_gene_variant,,ENST00000594374,;L34079.3,non_coding_transcript_exon_variant,,ENST00000597119,;XRCC1,missense_variant,p.Ala111Thr,ENST00000597811,;XRCC1,non_coding_transcript_exon_variant,,ENST00000595789,;XRCC1,non_coding_transcript_exon_variant,,ENST00000598422,;	uc002owt.2	c.544G>A	1092/2802	1	1			c.544G>A						19	SNP	c.(544-546)GCC>ACC	8	8			ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1)	7	Broad	X-ray repair cross complementing protein 1	Other_BER_factors		44057610		0.502	ENSG00000073050	17196	g.chr19:44057610C>T	base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding							-27.523101	KEEP	2	2	-1	88	70	2	2	-1	7.022316	88	70	0.028369	1	0	0	0	0	1	0	0	0	--	--		0	T			XRCC1_uc010xwp.1_Missense_Mutation_p.A151T	163	GBM-19-2623-TP	p.A182T	C	AGAGAGTTGGCGCTCTCATCC	NM_006297	NP_006288	44057610	P18887	XRCC1_HUMAN	0			6	664	-	T	T		Prostate(69;0.0153)	Missense_Mutation	182						
XRN2	22803		GRCh37	20	21367621	21367621	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000377191.3:c.2764C>A	p.Arg922=	p.R922=	ENST00000377191	NM_012255.3	922	Cga/Aga	0																																																																																																																																																																																																																																												
XRRA1	143570	broad.mit.edu	GRCh37	11	74559419	74559419	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0648-01	TCGA-06-0648-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340360.6:c.1445T>C	p.Met482Thr	p.M482T	ENST00000340360	NM_182969.2	482	aTg/aCg	0	G:0.0019	G:0.003	1	G:0		G	M/T	uc009yub.2	protein_coding	YES	CCDS44680.1			1445/2379									central_nervous_system(1)	1	c.(1444-1446)ATG>ACG			hmmpanther:PTHR22710	X-ray radiation resistance associated 1		G:0	G:0	ENSP00000339918	G:0	15/19	0.00024	0.00247	0.000175			3.01E-05		6.14E-05	rs376387401,COSM2151368	15/19	common_variant		ENST00000340360	Transcript		G:0.0008	response to X-ray	cytoplasm|nucleus		ENSG00000166435	g.chr11:74559419A>G	18868			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=XRRA1_HUMAN&rb=409&re=608&var=M482T	NA	getma.org/?cm=var&var=hg19,11,74559419,A,G&fts=all	M482T	--	--	1																																		XRRA1_uc001ovm.2_RNA|XRRA1_uc001ovn.2_Missense_Mutation_p.M105T|XRRA1_uc001ovo.2_Missense_Mutation_p.M90T|XRRA1_uc001ovq.3_Missense_Mutation_p.M395T|XRRA1_uc001ovp.3_Missense_Mutation_p.M207T|XRRA1_uc001ovr.2_Missense_Mutation_p.M105T|XRRA1_uc001ovs.1_Missense_Mutation_p.M84T	0,1	1		benign(0.002)	p.M482T	NM_182969	NP_892014	G:0	tolerated(0.35)	0,1	XRRA1_HUMAN	XRRA1	HGNC	Q6P2D8	XRRA1_HUMAN			E9PJ58_HUMAN		15	1777	-			UPI0001572CC6	482					SNV	XRRA1,missense_variant,p.Met482Thr,ENST00000340360,NM_182969.2;XRRA1,missense_variant,p.Met207Thr,ENST00000321448,NM_001270381.1;XRRA1,missense_variant,p.Met395Thr,ENST00000527087,NM_001270380.1;RN7SL239P,downstream_gene_variant,,ENST00000490061,;XRRA1,non_coding_transcript_exon_variant,,ENST00000530280,;XRRA1,missense_variant,p.Met38Thr,ENST00000530562,;XRRA1,3_prime_UTR_variant,,ENST00000531849,;XRRA1,3_prime_UTR_variant,,ENST00000531449,;XRRA1,non_coding_transcript_exon_variant,,ENST00000431210,;XRRA1,downstream_gene_variant,,ENST00000529926,;	uc009yub.2	c.1445T>C	1777/5681	4	4			c.1445T>C						11	SNP	c.(1444-1446)ATG>ACG	22	22			central_nervous_system(1)	1	Broad	X-ray radiation resistance associated 1			74559419		0.552	ENSG00000166435	17205	g.chr11:74559419A>G	response to X-ray	cytoplasm|nucleus								101.30062	KEEP	15	21	-1	13	24	15	21	-1	101.30062	13	24	0.5	1	0	0	0	0	1	0	0	0	--	--		0	G			XRRA1_uc001ovm.2_RNA|XRRA1_uc001ovn.2_Missense_Mutation_p.M105T|XRRA1_uc001ovo.2_Missense_Mutation_p.M90T|XRRA1_uc001ovq.3_Missense_Mutation_p.M395T|XRRA1_uc001ovp.3_Missense_Mutation_p.M207T|XRRA1_uc001ovr.2_Missense_Mutation_p.M105T|XRRA1_uc001ovs.1_Missense_Mutation_p.M84T	61	GBM-06-0648-TP	p.M482T	A	TGGCTCTAGCATATCCTTTGA	NM_182969	NP_892014	74559419	Q6P2D8	XRRA1_HUMAN	0			15	1777	-	G	G			Missense_Mutation	482						
XYLB	9942	broad.mit.edu	GRCh37	3	38411555	38411555	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-02-2470-01	TCGA-02-2470-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000207870.3:c.655A>G	p.Met219Val	p.M219V	ENST00000207870	NM_005108.3	219	Atg/Gtg	0			1			G	M/V	uc003cic.2	protein_coding	YES	CCDS2678.1			655/1611									ovary(1)	1	c.(655-657)ATG>GTG			Gene3D:3.30.420.40,Pfam_domain:PF00370,hmmpanther:PTHR10196,hmmpanther:PTHR10196:SF57,Superfamily_domains:SSF53067	xylulokinase				ENSP00000207870		19-Sep									COSM3408637	19-Sep	.		ENST00000207870	Transcript			D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity	ENSG00000093217	g.chr3:38411555A>G	12839			MODERATE		3.37	medium	getma.org/?cm=msa&ty=f&p=XYLB_HUMAN&rb=9&re=287&var=M219V	getma.org/pdb.php?prot=XYLB_HUMAN&from=9&to=287&var=M219V	getma.org/?cm=var&var=hg19,3,38411555,A,G&fts=all	M219V	--	--	1																																		XYLB_uc011ayp.1_Missense_Mutation_p.M82V|XYLB_uc003cid.1_Missense_Mutation_p.M141V	1	1		probably_damaging(0.964)	p.M219V	NM_005108	NP_005099		deleterious(0)	1	XYLB_HUMAN	XYLB	HGNC	O75191	XYLB_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)	B4DDT2_HUMAN,B3KM56_HUMAN		9	764	+			UPI0000160544	219					SNV	XYLB,missense_variant,p.Met219Val,ENST00000207870,NM_005108.3;XYLB,missense_variant,p.Met82Val,ENST00000542835,;XYLB,non_coding_transcript_exon_variant,,ENST00000487569,;XYLB,3_prime_UTR_variant,,ENST00000424034,;	uc003cic.2	c.655A>G	745/3664	4	4			c.655A>G						3	SNP	c.(655-657)ATG>GTG	26	26			ovary(1)	1	Broad	xylulokinase			38411555		0.443	ENSG00000093217	17206	g.chr3:38411555A>G	D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity							188.417679	KEEP	43	39	-1	217	179	43	39	-1	230.374764	217	179	0.174224	1	0	0	0	0	1	0	0	0	--	--		0	G			XYLB_uc011ayp.1_Missense_Mutation_p.M82V|XYLB_uc003cid.1_Missense_Mutation_p.M141V	5	GBM-02-2470-TP	p.M219V	A	AGGTTCTGGAATGAATTTGTT	NM_005108	NP_005099	38411555	O75191	XYLB_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)	9	764	+	G	G			Missense_Mutation	219						
XYLT1	64131	broad.mit.edu	GRCh37	16	17228564	17228564	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0154-01	TCGA-06-0154-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261381.6:c.1793G>A	p.Arg598His	p.R598H	ENST00000261381	NM_022166.3	598	cGc/cAc	0			1			T	R/H	uc002dfa.2	protein_coding	YES	CCDS10569.1			1793/2880									ovary(4)	4	c.(1792-1794)CGC>CAC			hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF91	xylosyltransferase I				ENSP00000261381		12-Sep									COSM248388	12-Sep	.		ENST00000261381	Transcript	1		glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	ENSG00000103489	g.chr16:17228564C>T	15516			MODERATE		3.045	medium	getma.org/?cm=msa&ty=f&p=XYLT1_HUMAN&rb=554&re=642&var=R598H	NA	getma.org/?cm=var&var=hg19,16,17228564,C,T&fts=all	R598H	--	--	1																																			1	1		probably_damaging(0.915)	p.R598H	NM_022166	NP_071449		deleterious(0)	1	XYLT1_HUMAN	XYLT1	HGNC	Q86Y38	XYLT1_HUMAN					9	1878	-			UPI000000DCCE	598			Lumenal (Potential).		SNV	XYLT1,missense_variant,p.Arg598His,ENST00000261381,NM_022166.3;CTD-2576D5.4,intron_variant,,ENST00000567344,;	uc002dfa.2	c.1793G>A	1878/9891	1	1			c.1793G>A						16	SNP	c.(1792-1794)CGC>CAC	5	5			ovary(4)	4	Broad	xylosyltransferase I			17228564		0.552	ENSG00000103489	17207	g.chr16:17228564C>T	glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity							-83.626247	KEEP	2	3	-1	194	211	2	3	-1	8.558936	194	211	0.014535	1	0	0	0	0	1	0	0	0	--	--		0	T				26	GBM-06-0154-TP	p.R598H	C	TTCAAACTTGCGGGCAAAGAA	NM_022166	NP_071449	17228564	Q86Y38	XYLT1_HUMAN	0			9	1878	-	T	T			Missense_Mutation	598			Lumenal (Potential).			
XYLT2	64132	broad.mit.edu	GRCh37	17	48433460	48433460	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000017003.2:c.1320G>A	p.Thr440=	p.T440=	ENST00000017003	NM_022167.2	440	acG/acA	0	A:0.0002		1			A	T	uc002iqo.2	protein_coding	YES	CCDS11563.1			1320/2598									pancreas(1)	1	c.(1318-1320)ACG>ACA			hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF79,Pfam_domain:PF02485	xylosyltransferase II			A:0	ENSP00000017003		11-Jul	1.65E-05	9.62E-05				1.50E-05			rs373704915,COSM3402993	11-Jul	.		ENST00000017003	Transcript			glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	ENSG00000015532	g.chr17:48433460G>A	15517			LOW								--	--	1																																		XYLT2_uc010dbo.2_RNA	0,1	1			p.T440T	NM_022167	NP_071450			0,1	XYLT2_HUMAN	XYLT2	HGNC	Q9H1B5	XYLT2_HUMAN					7	1429	+	Breast(11;7.18e-19)		UPI000013C536	440			Lumenal (Potential).		SNV	XYLT2,synonymous_variant,p.=,ENST00000017003,NM_022167.2;XYLT2,synonymous_variant,p.=,ENST00000507602,;XYLT2,upstream_gene_variant,,ENST00000574840,;XYLT2,downstream_gene_variant,,ENST00000509778,;XYLT2,synonymous_variant,p.=,ENST00000376550,;XYLT2,upstream_gene_variant,,ENST00000571021,;XYLT2,upstream_gene_variant,,ENST00000511654,;	uc002iqo.2	c.1320G>A	1369/3507	2	2			c.1320G>A						17	SNP	c.(1318-1320)ACG>ACA	17	17			pancreas(1)	1	Broad	xylosyltransferase II			48433460		0.617	ENSG00000015532	17208	g.chr17:48433460G>A	glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity							15.467766	KEEP	3	9	-1	44	51	3	9	-1	27.796119	44	51	0.123596	1	0	0	0	0	0	0	1	0	--	--		0	A			XYLT2_uc010dbo.2_RNA	46	GBM-06-0209-TP	p.T440T	G	TCTTCCACACGGTGCTGGAGA	NM_022167	NP_071450	48433460	Q9H1B5	XYLT2_HUMAN	0			7	1429	+	A	A	Breast(11;7.18e-19)		Silent	440			Lumenal (Potential).			
XYLT2	64132	broad.mit.edu	GRCh37	17	48437602	48437602	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0237-01	TCGA-06-0237-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000017003.2:c.2548G>A	p.Asp850Asn	p.D850N	ENST00000017003	NM_022167.2	850	Gac/Aac	0			1			A	D/N	uc002iqo.2	protein_coding	YES	CCDS11563.1			2548/2598									pancreas(1)	1	c.(2548-2550)GAC>AAC				xylosyltransferase II				ENSP00000017003		11-Nov									COSM2151036	11-Nov	.		ENST00000017003	Transcript			glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	ENSG00000015532	g.chr17:48437602G>A	15517			MODERATE		2.505	medium	getma.org/?cm=msa&ty=f&p=XYLT2_HUMAN&rb=820&re=863&var=D850N	NA	getma.org/?cm=var&var=hg19,17,48437602,G,A&fts=all	D850N	--	--	1																																		XYLT2_uc010dbo.2_RNA	1	1		possibly_damaging(0.856)	p.D850N	NM_022167	NP_071450		deleterious(0)	1	XYLT2_HUMAN	XYLT2	HGNC	Q9H1B5	XYLT2_HUMAN					11	2657	+	Breast(11;7.18e-19)		UPI000013C536	850			Lumenal (Potential).		SNV	XYLT2,missense_variant,p.Asp850Asn,ENST00000017003,NM_022167.2;XYLT2,intron_variant,,ENST00000507602,;XYLT2,downstream_gene_variant,,ENST00000574840,;XYLT2,3_prime_UTR_variant,,ENST00000376550,;XYLT2,non_coding_transcript_exon_variant,,ENST00000571021,;XYLT2,downstream_gene_variant,,ENST00000511654,;	uc002iqo.2	c.2548G>A	2597/3507	1	1			c.2548G>A						17	SNP	c.(2548-2550)GAC>AAC	62	62			pancreas(1)	1	Broad	xylosyltransferase II			48437602		0.647	ENSG00000015532	17208	g.chr17:48437602G>A	glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity							76.566977	KEEP	13	19	-1	17	19	13	19	-1	76.754274	17	19	0.438596	1	0	0	0	0	1	0	0	0	--	--		0	A			XYLT2_uc010dbo.2_RNA	54	GBM-06-0237-TP	p.D850N	G	TCTGTCCCCCGACCCCAAATC	NM_022167	NP_071450	48437602	Q9H1B5	XYLT2_HUMAN	0			11	2657	+	A	A	Breast(11;7.18e-19)		Missense_Mutation	850			Lumenal (Potential).			
XYLT2	64132		GRCh37	17	48435599	48435599	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000017003.2:c.1973T>C	p.Leu658Pro	p.L658P	ENST00000017003	NM_022167.2	658	cTt/cCt	0																																																																																																																																																																																																																																												
YAE1D1	0	broad.mit.edu	GRCh37	7	39612016	39612016	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-6695-01	TCGA-06-6695-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000223273.2:c.392T>C	p.Val131Ala	p.V131A	ENST00000223273	NM_020192.3	131	gTa/gCa	0			1			C	V/A	uc003thc.3	protein_coding	YES	CCDS5459.1			392/681										0	c.(391-393)GTA>GCA			hmmpanther:PTHR18829,hmmpanther:PTHR18829:SF0	hypothetical protein LOC57002				ENSP00000223273		3-Mar									COSM3412029	3-Mar	.		ENST00000223273	Transcript						ENSG00000241127	g.chr7:39612016T>C	24857			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=YAED1_HUMAN&rb=1&re=200&var=V131A	NA	getma.org/?cm=var&var=hg19,7,39612016,T,C&fts=all	V131A	--	--	1																																			1	1		benign(0.118)	p.V131A	NM_020192	NP_064577		tolerated(0.77)	1	YAED1_HUMAN	YAE1D1	HGNC	Q9NRH1	CG036_HUMAN					3	401	+			UPI0000074023	131					SNV	YAE1D1,missense_variant,p.Val131Ala,ENST00000223273,NM_020192.3;YAE1D1,3_prime_UTR_variant,,ENST00000448268,;YAE1D1,intron_variant,,ENST00000432096,NM_001282446.1;YAE1D1,downstream_gene_variant,,ENST00000469737,;YAE1D1,non_coding_transcript_exon_variant,,ENST00000485025,;YAE1D1,downstream_gene_variant,,ENST00000474392,;AC011290.5,upstream_gene_variant,,ENST00000438427,;	uc003thc.3	c.392T>C	435/899	4	4			c.392T>C						7	SNP	c.(391-393)GTA>GCA	44	44				0	Broad	hypothetical protein LOC57002			39612016		0.373	ENSG00000241127	2341	g.chr7:39612016T>C										177.511803	KEEP	24	35	-1	36	63	24	35	-1	179.146271	36	63	0.382353	1	0	0	0	0	1	0	0	0	--	--		0	C				110	GBM-06-6695-TP	p.V131A	T	TCCCATGTTGTAGATTTATTG	NM_020192	NP_064577	39612016	Q9NRH1	CG036_HUMAN	0			3	401	+	C	C			Missense_Mutation	131						
YARS2	0	broad.mit.edu	GRCh37	12	32908585	32908585	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-41-2573-01	TCGA-41-2573-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324868.8:c.224C>G	p.Thr75Ser	p.T75S	ENST00000324868	NM_001040436.2	75	aCc/aGc	0			1			C	T/S	uc001rli.2	protein_coding	YES	CCDS31770.1			224/1434										0	c.(223-225)ACC>AGC			hmmpanther:PTHR11766:SF0,hmmpanther:PTHR11766,Gene3D:3.40.50.620,Pfam_domain:PF00579,TIGRFAM_domain:TIGR00234,Superfamily_domains:SSF52374	tyrosyl-tRNA synthetase 2, mitochondrial	L-Tyrosine(DB00135)			ENSP00000320658		5-Jan									COSM3398676	5-Jan	.		ENST00000324868	Transcript	1		tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity	ENSG00000139131	g.chr12:32908585G>C	24249			MODERATE		0.72	neutral	getma.org/?cm=msa&ty=f&p=SYYM_HUMAN&rb=70&re=375&var=T75S	getma.org/pdb.php?prot=SYYM_HUMAN&from=70&to=375&var=T75S	getma.org/?cm=var&var=hg19,12,32908585,G,C&fts=all	T75S	--	--	1																																OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1	1		benign(0.067)	p.T75S	NM_001040436	NP_001035526		tolerated(0.41)	1	SYYM_HUMAN	YARS2	HGNC	Q9Y2Z4	SYYM_HUMAN					1	290	-	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		UPI0000046058	75					SNV	YARS2,missense_variant,p.Thr75Ser,ENST00000324868,NM_001040436.2;YARS2,missense_variant,p.Thr49Ser,ENST00000548490,;	uc001rli.2	c.224C>G	252/2122	3	3			c.224C>G						12	SNP	c.(223-225)ACC>AGC	49	49				0	Broad	tyrosyl-tRNA synthetase 2, mitochondrial		L-Tyrosine(DB00135)	32908585		0.577	ENSG00000139131	17212	g.chr12:32908585G>C	tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity							287.799727	KEEP	43	52	-1	59	50	43	52	-1	288.077016	59	50	0.457143	1	0	0	0	0	1	0	0	0	--	--		0	C	OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		252	GBM-41-2573-TP	p.T75S	G	ACAGTAAATGGTTTGGGGAAA	NM_001040436	NP_001035526	32908585	Q9Y2Z4	SYYM_HUMAN	0			1	290	-	C	C	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		Missense_Mutation	75						
YBX3	8531		GRCh37	12	10854621	10854621	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000228251.4:c.991C>T	p.Arg331Cys	p.R331C	ENST00000228251	NM_003651.4	331	Cgt/Tgt	0																																																																																																																																																																																																																																												
YDJC	0	broad.mit.edu	GRCh37	22	21984158	21984158	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01	TCGA-32-4213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000292778.6:c.146C>T	p.Ala49Val	p.A49V	ENST00000292778	NM_001017964.1	49	gCg/gTg	0			1			A	A/V	uc002zvb.2	protein_coding	YES	CCDS33613.1			146/972										0	c.(145-147)GCG>GTG			hmmpanther:PTHR31609,Pfam_domain:PF04794,Gene3D:3.20.20.370,Superfamily_domains:SSF88713	YdjC homolog				ENSP00000292778		5-Jan									COSM3405534	5-Jan	.		ENST00000292778	Transcript			carbohydrate metabolic process		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds	ENSG00000161179	g.chr22:21984158G>A	27158			MODERATE		3.25	medium	getma.org/?cm=msa&ty=f&p=YDJC_HUMAN&rb=6&re=289&var=A49V	getma.org/pdb.php?prot=YDJC_HUMAN&from=6&to=289&var=A49V	getma.org/?cm=var&var=hg19,22,21984158,G,A&fts=all	A49V	--	--	1																																		YDJC_uc002zvc.2_RNA|YDJC_uc002zvd.2_Missense_Mutation_p.A49V|CCDC116_uc011aih.1_5'Flank|CCDC116_uc002zve.2_5'Flank	1	1		probably_damaging(0.996)	p.A49V	NM_001017964	NP_001017964		deleterious(0)	1	YDJC_HUMAN	YDJC	HGNC	A8MPS7	YDJC_HUMAN					1	183	-	Colorectal(54;0.105)		UPI00001613F8	49					SNV	YDJC,missense_variant,p.Ala49Val,ENST00000292778,NM_001017964.1;YDJC,missense_variant,p.Ala49Val,ENST00000398873,;CCDC116,upstream_gene_variant,,ENST00000292779,NM_152612.2;CCDC116,upstream_gene_variant,,ENST00000607942,;CCDC116,upstream_gene_variant,,ENST00000425975,;YDJC,missense_variant,p.Ala49Val,ENST00000415762,;YDJC,non_coding_transcript_exon_variant,,ENST00000464015,;YDJC,non_coding_transcript_exon_variant,,ENST00000473985,;YDJC,non_coding_transcript_exon_variant,,ENST00000468686,;YDJC,non_coding_transcript_exon_variant,,ENST00000482998,;	uc002zvb.2	c.146C>T	196/1351	1	1			c.146C>T						22	SNP	c.(145-147)GCG>GTG	61	61				0	Broad	YdjC homolog			21984158		0.731	ENSG00000161179	17215	g.chr22:21984158G>A	carbohydrate metabolic process		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds							6.447589	KEEP	0	2	-1	2	5	0	2	-1	6.735725	2	5	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	A			YDJC_uc002zvc.2_RNA|YDJC_uc002zvd.2_Missense_Mutation_p.A49V|CCDC116_uc011aih.1_5'Flank|CCDC116_uc002zve.2_5'Flank	247	GBM-32-4213-TP	p.A49V	G	CAGCTCCGCCGCGCTCTCCGT	NM_001017964	NP_001017964	21984158	A8MPS7	YDJC_HUMAN	0			1	183	-	A	A	Colorectal(54;0.105)		Missense_Mutation	49						
YEATS2	55689	broad.mit.edu	GRCh37	3	183454552	183454552	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01	TCGA-06-0241-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305135.5:c.859G>A	p.Val287Ile	p.V287I	ENST00000305135	NM_018023.4	287	Gtc/Atc	0	A:0.0005		1			A	V/I	uc003fly.2	protein_coding	YES	CCDS43175.1			859/4269									ovary(3)|large_intestine(1)	4	c.(859-861)GTC>ATC			PROSITE_profiles:PS51037,hmmpanther:PTHR23195,hmmpanther:PTHR23195:SF7,Pfam_domain:PF03366	YEATS domain containing 2			A:0	ENSP00000306983		31-Aug	5.79E-05	0.000204	8.64E-05			6.00E-05			rs200810151,COSM2151182,COSM3408462	31-Aug	.		ENST00000305135	Transcript			histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	ENSG00000163872	g.chr3:183454552G>A	25489			MODERATE		-0.29	neutral	getma.org/?cm=msa&ty=f&p=YETS2_HUMAN&rb=231&re=314&var=V287I	getma.org/pdb.php?prot=YETS2_HUMAN&from=231&to=314&var=V287I	getma.org/?cm=var&var=hg19,3,183454552,G,A&fts=all	V287I	--	--	1																																			0,1,1	1		benign(0.028)	p.V287I	NM_018023	NP_060493		tolerated(0.17)	0,1,1	YETS2_HUMAN	YEATS2	HGNC	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)				8	1054	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		UPI00001BB2B9	287			YEATS.		SNV	YEATS2,missense_variant,p.Val287Ile,ENST00000305135,NM_018023.4;	uc003fly.2	c.859G>A	1054/6506	2	2			c.859G>A						3	SNP	c.(859-861)GTC>ATC	24	24			ovary(3)|large_intestine(1)	4	Broad	YEATS domain containing 2			183454552		0.418	ENSG00000163872	17216	g.chr3:183454552G>A	histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding							253.729552	KEEP	52	55	-1	76	71	52	55	-1	254.902068	76	71	0.422222	1	0	0	0	0	1	0	0	0	--	--		0	A				57	GBM-06-0241-TP	p.V287I	G	TGAGTTTCCCGTCAGAGTTCA	NM_018023	NP_060493	183454552	Q9ULM3	YETS2_HUMAN	0	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		8	1054	+	A	A	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		Missense_Mutation	287			YEATS.			
YEATS2	0	broad.mit.edu	GRCh37	3	183525871	183525871	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-12-3653-01	TCGA-12-3653-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305135.5:c.4066delG	p.Val1356TrpfsTer4	p.V1356Wfs*4	ENST00000305135	NM_018023.4	1355	gtG/gt	0			1			-	V/X	uc003fly.2	protein_coding	YES	CCDS43175.1			4065/4269									ovary(3)|large_intestine(1)	4	c.(4063-4065)GTGfs			hmmpanther:PTHR23195,hmmpanther:PTHR23195:SF7	YEATS domain containing 2				ENSP00000306983		29/31										29/31	.		ENST00000305135	Transcript			histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	ENSG00000163872	g.chr3:183525871delG	25489	1		HIGH								--	--	1																																		uc003fma.1_5'Flank		1			p.V1355fs	NM_018023	NP_060493				YETS2_HUMAN	YEATS2	HGNC	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)				29	4260	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		UPI00001BB2B9	1355					deletion	YEATS2,frameshift_variant,p.Val1356TrpfsTer4,ENST00000305135,NM_018023.4;YEATS2-AS1,non_coding_transcript_exon_variant,,ENST00000425008,;YEATS2-AS1,non_coding_transcript_exon_variant,,ENST00000609195,;YEATS2-AS1,non_coding_transcript_exon_variant,,ENST00000609871,;YEATS2,non_coding_transcript_exon_variant,,ENST00000472593,;YEATS2,non_coding_transcript_exon_variant,,ENST00000481343,;YEATS2,upstream_gene_variant,,ENST00000468850,;	uc003fly.2	c.4065delG	4260/6506	5	5			c.4065delG						3	DEL	c.(4063-4065)GTGfs	24	24			ovary(3)|large_intestine(1)	4	Broad	YEATS domain containing 2			183525871		0.562	ENSG00000163872	17216	g.chr3:183525871delG	histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding																				0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			uc003fma.1_5'Flank	128	GBM-12-3653-TP	p.V1355fs	G	ATGCGTCCGTGGTGGAGGACA	NM_018023	NP_060493	183525871	Q9ULM3	YETS2_HUMAN	0	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		29	4260	+	-	-	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		Frame_Shift_Del	1355						
YIPF5	0	broad.mit.edu	GRCh37	5	143540055	143540055	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-28-2513-01	TCGA-28-2513-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000274496.5:c.680T>G	p.Phe227Cys	p.F227C	ENST00000274496	NM_030799.8	227	tTt/tGt	0			1			C	F/C	uc003lnk.3	protein_coding	YES	CCDS4279.1			680/774									ovary(1)|skin(1)	2	c.(679-681)TTT>TGT			Pfam_domain:PF04893,hmmpanther:PTHR21236,hmmpanther:PTHR21236:SF6,Transmembrane_helices:TMhelix	Yip1 domain family, member 5				ENSP00000274496		6-Jun									COSM3409961	6-Jun	.		ENST00000274496	Transcript			protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane		ENSG00000145817	g.chr5:143540055A>C	24877			MODERATE		3.415	medium	getma.org/?cm=msa&ty=f&p=YIPF5_HUMAN&rb=96&re=254&var=F227C	NA	getma.org/?cm=var&var=hg19,5,143540055,A,C&fts=all	F227C	--	--	1																																		YIPF5_uc003lnl.3_Missense_Mutation_p.F227C|YIPF5_uc010jgl.2_Missense_Mutation_p.F173C	1	1		probably_damaging(0.997)	p.F227C	NM_001024947	NP_001020118		deleterious(0)	1	YIPF5_HUMAN	YIPF5	HGNC	Q969M3	YIPF5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		E5RHH4_HUMAN,E5RGR9_HUMAN		6	1121	-		all_hematologic(541;0.118)	UPI00000474FE	227			Cytoplasmic (Potential).		SNV	YIPF5,missense_variant,p.Phe227Cys,ENST00000274496,NM_030799.8;YIPF5,missense_variant,p.Phe227Cys,ENST00000448443,NM_001024947.3;YIPF5,missense_variant,p.Phe173Cys,ENST00000513112,NM_001271732.1;YIPF5,missense_variant,p.Phe173Cys,ENST00000519064,;YIPF5,downstream_gene_variant,,ENST00000522203,;YIPF5,downstream_gene_variant,,ENST00000508754,;	uc003lnk.3	c.680T>G	815/3147	3	3			c.680T>G						5	SNP	c.(679-681)TTT>TGT	63	63			ovary(1)|skin(1)	2	Broad	Yip1 domain family, member 5			143540055		0.388	ENSG00000145817	17225	g.chr5:143540055A>C	protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane								38.277364	KEEP	10	7	-1	32	36	10	7	-1	45.384897	32	36	0.189873	1	0	0	0	0	1	0	0	0	--	--		0	C			YIPF5_uc003lnl.3_Missense_Mutation_p.F227C|YIPF5_uc010jgl.2_Missense_Mutation_p.F173C	213	GBM-28-2513-TP	p.F227C	A	TGCAGAAATAAATATTTTGGA	NM_001024947	NP_001020118	143540055	Q969M3	YIPF5_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		6	1121	-	C	C		all_hematologic(541;0.118)	Missense_Mutation	227			Cytoplasmic (Potential).			
YIPF6	286451	broad.mit.edu	GRCh37	X	67742719	67742719	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-0173-01	TCGA-06-0173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000462683.1:c.552G>T	p.Arg184=	p.R184=	ENST00000462683	NM_173834.3	184	cgG/cgT	0			1			T	R	uc004dwy.2	protein_coding	YES	CCDS14389.1			552/711										0	c.(550-552)CGG>CGT			Transmembrane_helices:TMhelix,hmmpanther:PTHR21236:SF1,hmmpanther:PTHR21236,Pfam_domain:PF04893	Yip1 domain family, member 6				ENSP00000417573		7-Jun									COSM2150407	7-Jun	.		ENST00000462683	Transcript				endoplasmic reticulum|integral to membrane		ENSG00000181704	g.chrX:67742719G>T	28304			LOW								--	--	1																																		YIPF6_uc011mph.1_Silent_p.R141R	1	1			p.R184R	NM_173834	NP_776195			1	YIPF6_HUMAN	YIPF6	HGNC	Q96EC8	YIPF6_HUMAN					6	575	+			UPI000003778F	184					SNV	YIPF6,synonymous_variant,p.=,ENST00000462683,NM_173834.3;YIPF6,synonymous_variant,p.=,ENST00000374622,NM_001195214.1;YIPF6,synonymous_variant,p.=,ENST00000451537,;YIPF6,non_coding_transcript_exon_variant,,ENST00000374643,;	uc004dwy.2	c.552G>T	1296/6741	1	1			c.552G>T						23	SNP	c.(550-552)CGG>CGT	16	16				0	Broad	Yip1 domain family, member 6			67742719		0.408	ENSG00000181704	17226	g.chrX:67742719G>T		endoplasmic reticulum|integral to membrane								194.47384	KEEP	38	33	0.535211268	72	49	38	33	0.535211268	196.768109	72	49	0.378531	1	0	0	0	0	0	0	1	0	--	--		0	T			YIPF6_uc011mph.1_Silent_p.R141R	36	GBM-06-0173-TP	p.R184R	G	TCATGGTTCGGCTTTTTGTGG	NM_173834	NP_776195	67742719	Q96EC8	YIPF6_HUMAN	0			6	575	+	T	T			Silent	184						
YIPF6	0	broad.mit.edu	GRCh37	X	67742720	67742720	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-12-5295-01	TCGA-12-5295-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000462683.1:c.553C>A	p.Leu185Ile	p.L185I	ENST00000462683	NM_173834.3	185	Ctt/Att	0			1			A	L/I	uc004dwy.2	protein_coding	YES	CCDS14389.1			553/711										0	c.(553-555)CTT>ATT			Transmembrane_helices:TMhelix,hmmpanther:PTHR21236:SF1,hmmpanther:PTHR21236,Pfam_domain:PF04893	Yip1 domain family, member 6				ENSP00000417573		7-Jun									COSM3406535	7-Jun	.		ENST00000462683	Transcript				endoplasmic reticulum|integral to membrane		ENSG00000181704	g.chrX:67742720C>A	28304			MODERATE		1.195	low	getma.org/?cm=msa&ty=f&p=YIPF6_HUMAN&rb=62&re=227&var=L185I	NA	getma.org/?cm=var&var=hg19,X,67742720,C,A&fts=all	L185I	--	--	1																																		YIPF6_uc011mph.1_Missense_Mutation_p.L142I	1	1		benign(0.446)	p.L185I	NM_173834	NP_776195		tolerated(0.16)	1	YIPF6_HUMAN	YIPF6	HGNC	Q96EC8	YIPF6_HUMAN					6	576	+			UPI000003778F	185			Helical; (Potential).		SNV	YIPF6,missense_variant,p.Leu185Ile,ENST00000462683,NM_173834.3;YIPF6,missense_variant,p.Leu142Ile,ENST00000374622,NM_001195214.1;YIPF6,missense_variant,p.Leu142Ile,ENST00000451537,;YIPF6,non_coding_transcript_exon_variant,,ENST00000374643,;	uc004dwy.2	c.553C>A	1297/6741	1	1			c.553C>A						23	SNP	c.(553-555)CTT>ATT	50	50				0	Broad	Yip1 domain family, member 6			67742720		0.408	ENSG00000181704	17226	g.chrX:67742720C>A		endoplasmic reticulum|integral to membrane								149.733417	KEEP	28	38	0.575757576	65	62	28	38	0.575757576	154.123443	65	62	0.329412	1	0	0	0	0	1	0	0	0	--	--		0	A			YIPF6_uc011mph.1_Missense_Mutation_p.L142I	129	GBM-12-5295-TP	p.L185I	C	CATGGTTCGGCTTTTTGTGGT	NM_173834	NP_776195	67742720	Q96EC8	YIPF6_HUMAN	0			6	576	+	A	A			Missense_Mutation	185			Helical; (Potential).			
YIPF6	0	broad.mit.edu	GRCh37	X	67731798	67731798	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-19-1390-01	TCGA-19-1390-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000462683.1:c.165T>A	p.Asn55Lys	p.N55K	ENST00000462683	NM_173834.3	55	aaT/aaA	0			1			A	N/K	uc004dwy.2	protein_coding	YES	CCDS14389.1			165/711										0	c.(163-165)AAT>AAA			hmmpanther:PTHR21236:SF1,hmmpanther:PTHR21236	Yip1 domain family, member 6				ENSP00000417573		7-Feb	1.65E-05	0.000236							rs770147990,COSM3406534	7-Feb	.		ENST00000462683	Transcript				endoplasmic reticulum|integral to membrane		ENSG00000181704	g.chrX:67731798T>A	28304			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=YIPF6_HUMAN&rb=1&re=61&var=N55K	NA	getma.org/?cm=var&var=hg19,X,67731798,T,A&fts=all	N55K	--	--	1																																		YIPF6_uc011mph.1_Intron	0,1	1		benign(0.055)	p.N55K	NM_173834	NP_776195		deleterious(0)	0,1	YIPF6_HUMAN	YIPF6	HGNC	Q96EC8	YIPF6_HUMAN					2	188	+			UPI000003778F	55					SNV	YIPF6,missense_variant,p.Asn55Lys,ENST00000462683,NM_173834.3;YIPF6,intron_variant,,ENST00000374622,NM_001195214.1;YIPF6,intron_variant,,ENST00000451537,;YIPF6,non_coding_transcript_exon_variant,,ENST00000470730,;YIPF6,non_coding_transcript_exon_variant,,ENST00000374643,;YIPF6,non_coding_transcript_exon_variant,,ENST00000496576,;YIPF6,non_coding_transcript_exon_variant,,ENST00000462972,;	uc004dwy.2	c.165T>A	909/6741	2	2			c.165T>A						23	SNP	c.(163-165)AAT>AAA	44	44				0	Broad	Yip1 domain family, member 6			67731798		0.393	ENSG00000181704	17226	g.chrX:67731798T>A		endoplasmic reticulum|integral to membrane								114.427024	KEEP	23	22	-1	56	73	23	22	-1	122.819381	56	73	0.25641	1	0	0	0	0	1	0	0	0	--	--		0	A			YIPF6_uc011mph.1_Intron	159	GBM-19-1390-TP	p.N55K	T	CCACATTAAATGAATCTGTTC	NM_173834	NP_776195	67731798	Q96EC8	YIPF6_HUMAN	0			2	188	+	A	A			Missense_Mutation	55						
YLPM1	56252		GRCh37	14	75264755	75264755	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000325680.7:c.2755G>A	p.Val919Ile	p.V919I	ENST00000325680	NM_019589.2	919	Gta/Ata	0																																																																																																																																																																																																																																												
YME1L1	0	broad.mit.edu	GRCh37	10	27415646	27415646	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01	TCGA-12-3650-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326799.3:c.1099C>T	p.Leu367Phe	p.L367F	ENST00000326799	NM_139312.2	367	Ctt/Ttt	0			1			A	L/F	uc001iti.2	protein_coding	YES	CCDS7152.1			1099/2322									ovary(1)	1	c.(1099-1101)CTT>TTT			Gene3D:3.40.50.300,HAMAP:MF_01458,hmmpanther:PTHR23076,hmmpanther:PTHR23076:SF37,Low_complexity_(Seg):seg,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR01241	YME1-like 1 isoform 1				ENSP00000318480		20-Oct									COSM3397075	20-Oct	.		ENST00000326799	Transcript			protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	ENSG00000136758	g.chr10:27415646G>A	12843			MODERATE		2.07	medium	getma.org/?cm=msa&ty=f&p=YMEL1_HUMAN&rb=200&re=374&var=L367F	getma.org/pdb.php?prot=YMEL1_HUMAN&from=200&to=374&var=L367F	getma.org/?cm=var&var=hg19,10,27415646,G,A&fts=all	L367F	--	--	1																																		YME1L1_uc001itj.2_Missense_Mutation_p.L310F|YME1L1_uc010qdl.1_Missense_Mutation_p.L277F|YME1L1_uc009xkv.2_RNA	1	1		probably_damaging(0.952)	p.L367F	NM_139312	NP_647473		deleterious(0)	1	YMEL1_HUMAN	YME1L1	HGNC	Q96TA2	YMEL1_HUMAN					10	1281	-			UPI000013DBDD	367					SNV	YME1L1,missense_variant,p.Leu367Phe,ENST00000326799,NM_139312.2;YME1L1,missense_variant,p.Leu310Phe,ENST00000376016,NM_014263.3;YME1L1,missense_variant,p.Leu277Phe,ENST00000375972,NM_001253866.1;YME1L1,missense_variant,p.Leu186Phe,ENST00000491542,;YME1L1,non_coding_transcript_exon_variant,,ENST00000463270,;	uc001iti.2	c.1099C>T	1248/3994	2	2			c.1099C>T						10	SNP	c.(1099-1101)CTT>TTT	17	17			ovary(1)	1	Broad	YME1-like 1 isoform 1			27415646		0.274	ENSG00000136758	17231	g.chr10:27415646G>A	protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity							35.654969	KEEP	9	2	-1	2	3	9	2	-1	36.023757	2	3	0.666667	1	0	0	0	0	1	0	0	0	--	--		0	A			YME1L1_uc001itj.2_Missense_Mutation_p.L310F|YME1L1_uc010qdl.1_Missense_Mutation_p.L277F|YME1L1_uc009xkv.2_RNA	126	GBM-12-3650-TP	p.L367F	G	TTACCTCCAAGAATAGTAAAT	NM_139312	NP_647473	27415646	Q96TA2	YMEL1_HUMAN	0			10	1281	-	A	A			Missense_Mutation	367						
YOD1	0	broad.mit.edu	GRCh37	1	207224090	207224090	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01	TCGA-28-5204-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315927.4:c.286G>A	p.Glu96Lys	p.E96K	ENST00000315927	NM_018566.3	96	Gag/Aag	0			1			T	E/K	uc001hfe.1	protein_coding	YES	CCDS31002.1			286/1047									lung(1)	1	c.(286-288)GAG>AAG			Gene3D:3.10.20.90,hmmpanther:PTHR13312,hmmpanther:PTHR13312:SF0,Superfamily_domains:SSF54236	YOD1 OTU deubiquinating enzyme 1 homolog				ENSP00000326813		2-Jan									COSM3400245,COSM3400246	2-Jan	.		ENST00000315927	Transcript			cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding	ENSG00000180667	g.chr1:207224090C>T	25035			MODERATE		-0.13	neutral	getma.org/?cm=msa&ty=f&p=OTU1_HUMAN&rb=1&re=154&var=E96K	getma.org/pdb.php?prot=OTU1_HUMAN&from=1&to=154&var=E96K	getma.org/?cm=var&var=hg19,1,207224090,C,T&fts=all	E96K	--	--	1																																OREG0014189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	PFKFB2_uc010psc.1_Intron|YOD1_uc001hff.1_Missense_Mutation_p.E52K	1,1	1		benign(0.001)	p.E96K	NM_018566	NP_061036		tolerated(1)	1,1	OTU1_HUMAN	YOD1	HGNC	Q5VVQ6	OTU1_HUMAN					1	333	-	Prostate(682;0.19)		UPI0000458A05	96			UBX-like.		SNV	YOD1,missense_variant,p.Glu52Lys,ENST00000367084,NM_001276320.1;YOD1,missense_variant,p.Glu96Lys,ENST00000315927,NM_018566.3;YOD1,missense_variant,p.Glu52Lys,ENST00000391927,;PFKFB2,intron_variant,,ENST00000411990,;PFKFB2,upstream_gene_variant,,ENST00000367080,NM_006212.2;PFKFB2,upstream_gene_variant,,ENST00000367079,NM_001018053.1;PFKFB2,upstream_gene_variant,,ENST00000545806,;PFKFB2,upstream_gene_variant,,ENST00000464777,;PFKFB2,upstream_gene_variant,,ENST00000468857,;	uc001hfe.1	c.286G>A	333/6265	1	1			c.286G>A						1	SNP	c.(286-288)GAG>AAG	13	13			lung(1)	1	Broad	YOD1 OTU deubiquinating enzyme 1 homolog			207224090		0.632	ENSG00000180667	17232	g.chr1:207224090C>T	cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding							188.334914	KEEP	46	43	-1	62	66	46	43	-1	189.42885	62	66	0.41573	1	0	0	0	0	1	0	0	0	--	--		0	T	OREG0014189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	PFKFB2_uc010psc.1_Intron|YOD1_uc001hff.1_Missense_Mutation_p.E52K	215	GBM-28-5204-TP	p.E96K	C	TCCAGGCACTCGGGAGGGTAT	NM_018566	NP_061036	207224090	Q5VVQ6	OTU1_HUMAN	0			1	333	-	T	T	Prostate(682;0.19)		Missense_Mutation	96			UBX-like.			
YPEL3	83719	broad.mit.edu	GRCh37	16	30106203	30106203	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0237-01	TCGA-06-0237-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398841.1:c.291C>T	p.Cys97=	p.C97=	ENST00000398841	NM_031477.4	97	tgC/tgT	0			1			A	C	uc002dwm.2	protein_coding		CCDS45459.1			177/360										0	c.(175-177)TGC>TGT			Pfam_domain:PF03226,hmmpanther:PTHR13847:SF179,hmmpanther:PTHR13847	yippee-like 3 isoform 2				ENSP00000381818		5-Apr									COSM2151035	5-Apr	.		ENST00000398838	Transcript				nucleolus		ENSG00000090238	g.chr16:30106203G>A	18327			LOW								--	--	1																																		uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TBX6_uc010veh.1_5'Flank|TBX6_uc002dwk.1_5'Flank|YPEL3_uc002dwl.2_Silent_p.C97C|YPEL3_uc002dwn.1_Silent_p.C97C|uc002dwo.1_5'Flank	1				p.C59C	NM_001145524	NP_001138996			1	YPEL3_HUMAN	YPEL3	HGNC	P61236	YPEL3_HUMAN			H3BRF0_HUMAN,H3BME7_HUMAN		4	363	-			UPI00000297CA	59					SNV	YPEL3,synonymous_variant,p.=,ENST00000562641,;YPEL3,synonymous_variant,p.=,ENST00000398841,NM_031477.4;YPEL3,synonymous_variant,p.=,ENST00000398838,NM_001145524.1;YPEL3,synonymous_variant,p.=,ENST00000566595,;YPEL3,synonymous_variant,p.=,ENST00000563788,;YPEL3,synonymous_variant,p.=,ENST00000565110,;YPEL3,intron_variant,,ENST00000566134,;TBX6,upstream_gene_variant,,ENST00000553607,;TBX6,upstream_gene_variant,,ENST00000395224,NM_004608.3;TBX6,upstream_gene_variant,,ENST00000279386,;RP11-455F5.3,upstream_gene_variant,,ENST00000515455,;YPEL3,non_coding_transcript_exon_variant,,ENST00000565479,;YPEL3,non_coding_transcript_exon_variant,,ENST00000568674,;YPEL3,3_prime_UTR_variant,,ENST00000566401,;YPEL3,non_coding_transcript_exon_variant,,ENST00000568681,;TBX6,upstream_gene_variant,,ENST00000567664,;YPEL3,upstream_gene_variant,,ENST00000570099,;	uc002dwm.2	c.177C>T	391/935	2	2			c.177C>T						16	SNP	c.(175-177)TGC>TGT	35	35				0	Broad	yippee-like 3 isoform 2			30106203		0.632	ENSG00000090238	17235	g.chr16:30106203G>A		nucleolus								157.033773	KEEP	35	32	-1	15	31	35	32	-1	157.876124	15	31	0.607143	1	0	0	0	0	0	0	1	0	--	--		0	A			uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TBX6_uc010veh.1_5'Flank|TBX6_uc002dwk.1_5'Flank|YPEL3_uc002dwl.2_Silent_p.C97C|YPEL3_uc002dwn.1_Silent_p.C97C|uc002dwo.1_5'Flank	54	GBM-06-0237-TP	p.C59C	G	CGGCTGGCCCGCAGCCCACGT	NM_001145524	NP_001138996	30106203	P61236	YPEL3_HUMAN	0			4	363	-	A	A			Silent	59						
YTHDF2	0	broad.mit.edu	GRCh37	1	29069013	29069013	+	synonymous_variant	Silent	SNP	G	G	A	rs11553689		TCGA-32-1979-01	TCGA-32-1979-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373812.3:c.231G>A	p.Thr77=	p.T77=	ENST00000373812	NM_016258.2	77	acG/acA	0		A:0	1	A:0		A	T	uc001brc.2	protein_coding	YES	CCDS41296.1			231/1740									ovary(1)|skin(1)	2	c.(229-231)ACG>ACA			hmmpanther:PTHR12357,hmmpanther:PTHR12357:SF8	high glucose-regulated protein 8		A:0.001		ENSP00000362918	A:0	5-Apr	8.27E-06							6.12E-05	rs11553689,COSM2236853	5-Apr	.		ENST00000373812	Transcript		A:0.0002	humoral immune response			ENSG00000198492	g.chr1:29069013G>A	31675			LOW								--	--	1																																		YTHDF2_uc001brd.2_Silent_p.T74T|YTHDF2_uc010ofx.1_Silent_p.T27T|YTHDF2_uc001bre.2_Silent_p.T27T	0,1	1			p.T77T	NM_016258	NP_057342	A:0		0,1	YTHD2_HUMAN	YTHDF2	HGNC	Q9Y5A9	YTHD2_HUMAN		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	S4R3J8_HUMAN		4	728	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	UPI0000034E25	77					SNV	YTHDF2,synonymous_variant,p.=,ENST00000373812,NM_016258.2;YTHDF2,synonymous_variant,p.=,ENST00000542507,NM_001173128.1;YTHDF2,synonymous_variant,p.=,ENST00000541996,NM_001172828.1;YTHDF2,synonymous_variant,p.=,ENST00000496288,;YTHDF2,synonymous_variant,p.=,ENST00000474884,;YTHDF2,non_coding_transcript_exon_variant,,ENST00000478283,;YTHDF2,non_coding_transcript_exon_variant,,ENST00000468863,;YTHDF2,non_coding_transcript_exon_variant,,ENST00000476976,;YTHDF2,non_coding_transcript_exon_variant,,ENST00000475796,;	uc001brc.2	c.231G>A	593/2925	2	2			c.231G>A						1	SNP	c.(229-231)ACG>ACA	28	28			ovary(1)|skin(1)	2	Broad	high glucose-regulated protein 8			29069013		0.502	ENSG00000198492	17243	g.chr1:29069013G>A	humoral immune response									183.551212	KEEP	33	42	-1	65	106	33	42	-1	191.423915	65	106	0.300448	1	0	0	0	0	0	0	1	0	--	--		0	A			YTHDF2_uc001brd.2_Silent_p.T74T|YTHDF2_uc010ofx.1_Silent_p.T27T|YTHDF2_uc001bre.2_Silent_p.T27T	230	GBM-32-1979-TP	p.T77T	G	CTTGGTCTACGGGGGGTGACA	NM_016258	NP_057342	29069013	Q9Y5A9	YTHD2_HUMAN	0		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	4	728	+	A	A		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	Silent	77						
YWHAE	0	broad.mit.edu	GRCh37	17	1303395	1303395	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-41-2575-01	TCGA-41-2575-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264335.8:c.10C>T	p.Arg4Ter	p.R4*	ENST00000264335	NM_006761.4	4	Cga/Tga	0			1			A	R/*	uc002fsj.2	protein_coding	YES	CCDS11001.1			10/768									lung(2)|ovary(1)	3	c.(10-12)CGA>TGA			Gene3D:3iquA00,Pfam_domain:PF00244,PIRSF_domain:PIRSF000868,hmmpanther:PTHR18860,SMART_domains:SM00101,Superfamily_domains:SSF48445	tyrosine 3/tryptophan 5 -monooxygenase				ENSP00000264335		6-Jan									COSM3402616,COSM3402615	6-Jan	.		ENST00000264335	Transcript	1		apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding	ENSG00000108953	g.chr17:1303395G>A	12851			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,17,1303395,G,A&fts=all	R4*	--	--	1																																		YWHAE_uc002fsk.2_5'UTR|YWHAE_uc010vqh.1_RNA|YWHAE_uc010vqi.1_RNA	1,1	1			p.R4*	NM_006761	NP_006752			1,1	1433E_HUMAN	YWHAE	HGNC	P62258	1433E_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)	B7ZA86_HUMAN		1	162	-			UPI0000021A46	4					SNV	YWHAE,stop_gained,p.Arg4Ter,ENST00000264335,NM_006761.4;YWHAE,stop_gained,p.Arg4Ter,ENST00000573026,;YWHAE,stop_gained,p.Arg4Ter,ENST00000575977,;YWHAE,5_prime_UTR_variant,,ENST00000571732,;YWHAE,non_coding_transcript_exon_variant,,ENST00000498643,;YWHAE,upstream_gene_variant,,ENST00000572108,;YWHAE,stop_gained,p.Arg4Ter,ENST00000573196,;YWHAE,non_coding_transcript_exon_variant,,ENST00000576854,;YWHAE,non_coding_transcript_exon_variant,,ENST00000486241,;YWHAE,non_coding_transcript_exon_variant,,ENST00000469398,;YWHAE,non_coding_transcript_exon_variant,,ENST00000489287,;	uc002fsj.2	c.10C>T	278/2211	5	2			c.10C>T						17	SNP	c.(10-12)CGA>TGA	24	24			lung(2)|ovary(1)	3	Broad	tyrosine 3/tryptophan 5 -monooxygenase			1303395		0.657	ENSG00000108953	17246	g.chr17:1303395G>A	apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding							92.545151	KEEP	25	23	-1	33	47	25	23	-1	94.615708	33	47	0.34375	1	0	0	0	0	0	1	0	0	--	--		0	A			YWHAE_uc002fsk.2_5'UTR|YWHAE_uc010vqh.1_RNA|YWHAE_uc010vqi.1_RNA	253	GBM-41-2575-TP	p.R4*	G	AGATCCTCTCGATCATCCATA	NM_006761	NP_006752	1303395	P62258	1433E_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)	1	162	-	A	A			Nonsense_Mutation	4						
YWHAH	7533		GRCh37	22	32352631	32352631	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000248975.5:c.593A>G	p.Lys198Arg	p.K198R	ENST00000248975	NM_003405.3	198	aAa/aGa	0																																																																																																																																																																																																																																												
YY1	7528		GRCh37	14	100705804	100705804	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000262238.4:c.223C>G	p.His75Asp	p.H75D	ENST00000262238	NM_003403.4	75	Cat/Gat	0																																																																																																																																																																																																																																												
YY1AP1	0	broad.mit.edu	GRCh37	1	155646478	155646478	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-26-5139-01	TCGA-26-5139-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295566.4:c.383T>C	p.Phe128Ser	p.F128S	ENST00000295566	NM_139118.2	128	tTt/tCt	0			1			G	F/S	uc001fln.2	protein_coding		CCDS1115.1			383/2391									ovary(2)|skin(1)	3	c.(382-384)TTT>TCT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16088,hmmpanther:PTHR16088:SF9	YY1-associated protein isoform 2				ENSP00000295566		11-May									COSM2157158,COSM2157157	11-May	.		ENST00000295566	Transcript			regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	ENSG00000163374	g.chr1:155646478A>G	30935			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=YYAP1_HUMAN&rb=16&re=794&var=F128S	NA	getma.org/?cm=var&var=hg19,1,155646478,A,G&fts=all	F128S	--	--	1																																		YY1AP1_uc010pgg.1_5'UTR|YY1AP1_uc010pgh.1_Missense_Mutation_p.F51S|YY1AP1_uc010pgi.1_Missense_Mutation_p.F200S|YY1AP1_uc001flh.2_Missense_Mutation_p.F200S|YY1AP1_uc009wqt.2_Missense_Mutation_p.F51S|YY1AP1_uc001flk.2_Missense_Mutation_p.F51S|YY1AP1_uc001fll.2_Missense_Mutation_p.F62S|YY1AP1_uc009wqv.2_5'UTR|YY1AP1_uc001flm.2_Missense_Mutation_p.F51S|YY1AP1_uc001fli.2_Missense_Mutation_p.F62S|YY1AP1_uc009wqu.2_5'UTR|YY1AP1_uc001flj.2_Missense_Mutation_p.F62S|YY1AP1_uc009wqw.2_Missense_Mutation_p.F51S|YY1AP1_uc001flo.2_5'UTR|YY1AP1_uc001flp.2_Missense_Mutation_p.F62S|YY1AP1_uc010pgj.1_Missense_Mutation_p.F128S|YY1AP1_uc009wqx.2_Missense_Mutation_p.F200S|YY1AP1_uc010pgk.1_Missense_Mutation_p.F200S	1,1			probably_damaging(0.981)	p.F128S	NM_139118	NP_620829		deleterious(0)	1,1	YYAP1_HUMAN	YY1AP1	HGNC	Q9H869	YYAP1_HUMAN			A3KFK2_HUMAN,A3KFK1_HUMAN		5	407	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		UPI0000141A85	128					SNV	YY1AP1,missense_variant,p.Phe200Ser,ENST00000368340,NM_001198904.1;YY1AP1,missense_variant,p.Phe200Ser,ENST00000368339,NM_001198903.1;YY1AP1,missense_variant,p.Phe51Ser,ENST00000361831,NM_018253.3;YY1AP1,missense_variant,p.Phe51Ser,ENST00000407221,;YY1AP1,missense_variant,p.Phe51Ser,ENST00000359205,NM_001198900.1;YY1AP1,missense_variant,p.Phe51Ser,ENST00000311573,;YY1AP1,missense_variant,p.Phe62Ser,ENST00000355499,;YY1AP1,missense_variant,p.Phe62Ser,ENST00000404643,NM_139119.2,NM_001198905.1;YY1AP1,missense_variant,p.Phe128Ser,ENST00000295566,NM_139118.2,NM_001198906.1;YY1AP1,missense_variant,p.Phe62Ser,ENST00000368330,NM_139121.2,NM_001198901.1;YY1AP1,missense_variant,p.Phe62Ser,ENST00000347088,NM_001198902.1;YY1AP1,missense_variant,p.Phe200Ser,ENST00000405763,;YY1AP1,missense_variant,p.Phe51Ser,ENST00000443231,;YY1AP1,missense_variant,p.Phe62Ser,ENST00000438245,;YY1AP1,missense_variant,p.Phe62Ser,ENST00000454523,;MSTO1,intron_variant,,ENST00000452804,;MSTO1,intron_variant,,ENST00000538143,;YY1AP1,upstream_gene_variant,,ENST00000535662,;YY1AP1,non_coding_transcript_exon_variant,,ENST00000476093,;YY1AP1,non_coding_transcript_exon_variant,,ENST00000493625,;YY1AP1,non_coding_transcript_exon_variant,,ENST00000476027,;YY1AP1,non_coding_transcript_exon_variant,,ENST00000466366,;YY1AP1,upstream_gene_variant,,ENST00000488784,;YY1AP1,upstream_gene_variant,,ENST00000477470,;YY1AP1,missense_variant,p.Phe62Ser,ENST00000361140,;YY1AP1,missense_variant,p.Phe62Ser,ENST00000354691,;YY1AP1,3_prime_UTR_variant,,ENST00000436865,;YY1AP1,non_coding_transcript_exon_variant,,ENST00000496324,;MSTO2P,intron_variant,,ENST00000538914,;	uc001fln.2	c.383T>C	407/2626	3	3			c.383T>C						1	SNP	c.(382-384)TTT>TCT	10	10			ovary(2)|skin(1)	3	Broad	YY1-associated protein isoform 2			155646478		0.438	ENSG00000163374	17252	g.chr1:155646478A>G	regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding							306.2847	KEEP	57	41	-1	87	72	57	41	-1	309.735607	87	72	0.372951	1	0	0	0	0	1	0	0	0	--	--		0	G			YY1AP1_uc010pgg.1_5'UTR|YY1AP1_uc010pgh.1_Missense_Mutation_p.F51S|YY1AP1_uc010pgi.1_Missense_Mutation_p.F200S|YY1AP1_uc001flh.2_Missense_Mutation_p.F200S|YY1AP1_uc009wqt.2_Missense_Mutation_p.F51S|YY1AP1_uc001flk.2_Missense_Mutation_p.F51S|YY1AP1_uc001fll.2_Missense_Mutation_p.F62S|YY1AP1_uc009wqv.2_5'UTR|YY1AP1_uc001flm.2_Missense_Mutation_p.F51S|YY1AP1_uc001fli.2_Missense_Mutation_p.F62S|YY1AP1_uc009wqu.2_5'UTR|YY1AP1_uc001flj.2_Missense_Mutation_p.F62S|YY1AP1_uc009wqw.2_Missense_Mutation_p.F51S|YY1AP1_uc001flo.2_5'UTR|YY1AP1_uc001flp.2_Missense_Mutation_p.F62S|YY1AP1_uc010pgj.1_Missense_Mutation_p.F128S|YY1AP1_uc009wqx.2_Missense_Mutation_p.F200S|YY1AP1_uc010pgk.1_Missense_Mutation_p.F200S	186	GBM-26-5139-TP	p.F128S	A	CAGCTGTTCAAATAGTTCCTT	NM_139118	NP_620829	155646478	Q9H869	YYAP1_HUMAN	0			5	407	-	G	G	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		Missense_Mutation	128						
YY1AP1	0	broad.mit.edu	GRCh37	1	155629578	155629578	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-27-2527-01	TCGA-27-2527-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295566.4:c.2261G>C	p.Gly754Ala	p.G754A	ENST00000295566	NM_139118.2	754	gGa/gCa	0			1			G	G/A	uc001fln.2	protein_coding		CCDS1115.1			2261/2391									ovary(2)|skin(1)	3	c.(2260-2262)GGA>GCA			hmmpanther:PTHR16088,hmmpanther:PTHR16088:SF9	YY1-associated protein isoform 2				ENSP00000295566		11-Nov									COSM3399801,COSM3399800	11-Nov	.		ENST00000295566	Transcript			regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	ENSG00000163374	g.chr1:155629578C>G	30935			MODERATE		1.78	low	getma.org/?cm=msa&ty=f&p=YYAP1_HUMAN&rb=16&re=794&var=G754A	NA	getma.org/?cm=var&var=hg19,1,155629578,C,G&fts=all	G754A	--	--	1																																		YY1AP1_uc001flg.2_Missense_Mutation_p.G493A|YY1AP1_uc010pgg.1_Missense_Mutation_p.G593A|YY1AP1_uc010pgh.1_Missense_Mutation_p.G697A|YY1AP1_uc010pgi.1_Missense_Mutation_p.G846A|YY1AP1_uc001flh.2_Missense_Mutation_p.G826A|YY1AP1_uc009wqt.2_Missense_Mutation_p.G677A|YY1AP1_uc001flk.2_Missense_Mutation_p.G697A|YY1AP1_uc001fll.2_Missense_Mutation_p.G708A|YY1AP1_uc009wqv.2_Missense_Mutation_p.G425A|YY1AP1_uc001flm.2_Missense_Mutation_p.G697A|YY1AP1_uc001fli.2_Missense_Mutation_p.G708A|YY1AP1_uc009wqu.2_Missense_Mutation_p.G541A|YY1AP1_uc001flj.2_Missense_Mutation_p.G688A|YY1AP1_uc009wqw.2_Missense_Mutation_p.G677A|YY1AP1_uc001flo.2_Missense_Mutation_p.G642A|YY1AP1_uc001flp.2_Missense_Mutation_p.G708A	1,1			probably_damaging(0.996)	p.G754A	NM_139118	NP_620829		deleterious_low_confidence(0)	1,1	YYAP1_HUMAN	YY1AP1	HGNC	Q9H869	YYAP1_HUMAN			A3KFK2_HUMAN,A3KFK1_HUMAN		11	2285	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		UPI0000141A85	754					SNV	YY1AP1,missense_variant,p.Gly826Ala,ENST00000368340,NM_001198904.1;YY1AP1,missense_variant,p.Gly846Ala,ENST00000368339,NM_001198903.1;YY1AP1,missense_variant,p.Gly697Ala,ENST00000361831,NM_018253.3;YY1AP1,missense_variant,p.Gly677Ala,ENST00000407221,;YY1AP1,missense_variant,p.Gly697Ala,ENST00000359205,NM_001198900.1;YY1AP1,missense_variant,p.Gly677Ala,ENST00000311573,;YY1AP1,missense_variant,p.Gly708Ala,ENST00000355499,;YY1AP1,missense_variant,p.Gly688Ala,ENST00000404643,NM_139119.2,NM_001198905.1;YY1AP1,missense_variant,p.Gly754Ala,ENST00000295566,NM_139118.2,NM_001198906.1;YY1AP1,missense_variant,p.Gly708Ala,ENST00000368330,NM_139121.2,NM_001198901.1;YY1AP1,missense_variant,p.Gly708Ala,ENST00000347088,NM_001198902.1;YY1AP1,missense_variant,p.Gly554Ala,ENST00000535662,;MSTO1,intron_variant,,ENST00000452804,;MSTO1,intron_variant,,ENST00000538143,;YY1AP1,downstream_gene_variant,,ENST00000405763,;YY1AP1,downstream_gene_variant,,ENST00000493625,;YY1AP1,downstream_gene_variant,,ENST00000488784,;YY1AP1,downstream_gene_variant,,ENST00000477470,;YY1AP1,3_prime_UTR_variant,,ENST00000361140,;YY1AP1,3_prime_UTR_variant,,ENST00000436865,;YY1AP1,3_prime_UTR_variant,,ENST00000354691,;YY1AP1,non_coding_transcript_exon_variant,,ENST00000442834,;RP11-29H23.5,non_coding_transcript_exon_variant,,ENST00000500626,;MSTO2P,intron_variant,,ENST00000538914,;	uc001fln.2	c.2261G>C	2285/2626	3	3			c.2261G>C						1	SNP	c.(2260-2262)GGA>GCA	13	13			ovary(2)|skin(1)	3	Broad	YY1-associated protein isoform 2			155629578		0.527	ENSG00000163374	17252	g.chr1:155629578C>G	regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding							-4.899859	KEEP	4	12	-1	114	110	4	12	-1	38.565293	114	110	0.066964	1	0	0	0	0	1	0	0	0	--	--		0	G			YY1AP1_uc001flg.2_Missense_Mutation_p.G493A|YY1AP1_uc010pgg.1_Missense_Mutation_p.G593A|YY1AP1_uc010pgh.1_Missense_Mutation_p.G697A|YY1AP1_uc010pgi.1_Missense_Mutation_p.G846A|YY1AP1_uc001flh.2_Missense_Mutation_p.G826A|YY1AP1_uc009wqt.2_Missense_Mutation_p.G677A|YY1AP1_uc001flk.2_Missense_Mutation_p.G697A|YY1AP1_uc001fll.2_Missense_Mutation_p.G708A|YY1AP1_uc009wqv.2_Missense_Mutation_p.G425A|YY1AP1_uc001flm.2_Missense_Mutation_p.G697A|YY1AP1_uc001fli.2_Missense_Mutation_p.G708A|YY1AP1_uc009wqu.2_Missense_Mutation_p.G541A|YY1AP1_uc001flj.2_Missense_Mutation_p.G688A|YY1AP1_uc009wqw.2_Missense_Mutation_p.G677A|YY1AP1_uc001flo.2_Missense_Mutation_p.G642A|YY1AP1_uc001flp.2_Missense_Mutation_p.G708A	204	GBM-27-2527-TP	p.G754A	C	AGCTTGCCTTCCCTCCTCTGT	NM_139118	NP_620829	155629578	Q9H869	YYAP1_HUMAN	0			11	2285	-	G	G	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		Missense_Mutation	754						
YY2	404281		GRCh37	X	21875351	21875351	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2510-01	TCGA-28-2510-01																				ENST00000429584.2:c.749C>T	p.Pro250Leu	p.P250L	ENST00000429584	NM_206923.3	250	cCt/cTt	0																																																																																																																																																																																																																																												
YY2	404281		GRCh37	X	21875300	21875300	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000429584.2:c.698A>G	p.Lys233Arg	p.K233R	ENST00000429584	NM_206923.3	233	aAa/aGa	0																																																																																																																																																																																																																																												
Z95704.2	0	broad.mit.edu	GRCh37	4	85691	85691	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C			TCGA-06-6390-01	TCGA-06-6390-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380882.5:n.71T>C		p.*24*	ENST00000380882				0			1			C		uc003fzv.1	pseudogene	YES														0	c.(295-297)ATA>ACA				zinc finger protein 595						3-Jan										3-Jan	.		ENST00000380882	Transcript			regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	ENSG00000255436	g.chr4:85691T>C				MODIFIER								--	--	1																																		ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_5'UTR|ZNF595_uc011but.1_5'UTR		1			p.I99T	NM_182524	NP_872330					Z95704.2	Clone_based_ensembl_gene	Q7Z3I0	Q7Z3I0_HUMAN		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)			4	452	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)		99					SNV	ZNF595,non_coding_transcript_exon_variant,,ENST00000339368,;ZNF595,non_coding_transcript_exon_variant,,ENST00000512065,;ZNF595,non_coding_transcript_exon_variant,,ENST00000507368,;Z95704.2,non_coding_transcript_exon_variant,,ENST00000380882,;	uc003fzv.1	c.296T>C	71/1716	3	3			c.296T>C						4	SNP	c.(295-297)ATA>ACA	16	16				0	Broad	zinc finger protein 595			85691		0.353	ENSG00000255436	17764	g.chr4:85691T>C	regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding							70.584364	KEEP	8	18	-1	39	36	8	18	-1	75.807951	39	36	0.25	1	0	0	0	0	1	0	0	0	--	--		0	C			ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_5'UTR|ZNF595_uc011but.1_5'UTR	106	GBM-06-6390-TP	p.I99T	T	CACAAACTTATACTGAAAAGA	NM_182524	NP_872330	85691	Q7Z3I0	Q7Z3I0_HUMAN	0		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)	4	452	+	C	C		all_cancers(4;0.0738)|all_epithelial(65;0.139)	Missense_Mutation	99						
Z95704.2	0	broad.mit.edu	GRCh37	4	86956	86956	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G			TCGA-76-4934-01	TCGA-76-4934-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380882.5:n.1334C>G		*445*	ENST00000380882				0			1			G		uc003fzv.1	pseudogene	YES														0	c.(1561-1563)TCA>TGA				zinc finger protein 595						3-Feb										3-Feb	.		ENST00000380882	Transcript			regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	ENSG00000255436	g.chr4:86956C>G				MODIFIER								--	--	1																																		ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_Nonsense_Mutation_p.S289*|ZNF595_uc011but.1_Nonsense_Mutation_p.S289*		1			p.S521*	NM_182524	NP_872330					Z95704.2	Clone_based_ensembl_gene	Q7Z3I0	Q7Z3I0_HUMAN		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)			6	1718	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)		521					SNV	ZNF595,non_coding_transcript_exon_variant,,ENST00000339368,;ZNF595,non_coding_transcript_exon_variant,,ENST00000512065,;ZNF595,non_coding_transcript_exon_variant,,ENST00000507368,;Z95704.2,non_coding_transcript_exon_variant,,ENST00000380882,;	uc003fzv.1	c.1562C>G	1334/1716	5	4			c.1562C>G						4	SNP	c.(1561-1563)TCA>TGA	17	17				0	Broad	zinc finger protein 595			86956		0.393	ENSG00000255436	17764	g.chr4:86956C>G	regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding							132.990767	KEEP	14	31	-1	62	81	14	31	-1	142.840253	62	81	0.245509	1	0	0	0	0	0	1	0	0	--	--		0	G			ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_Nonsense_Mutation_p.S289*|ZNF595_uc011but.1_Nonsense_Mutation_p.S289*	272	GBM-76-4934-TP	p.S521*	C	AACCAATCCTCAGGCCTTATT	NM_182524	NP_872330	86956	Q7Z3I0	Q7Z3I0_HUMAN	0		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)	6	1718	+	G	G		all_cancers(4;0.0738)|all_epithelial(65;0.139)	Nonsense_Mutation	521						
ZAN	7455	broad.mit.edu	GRCh37	7	100373053	100373053	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0124-01	TCGA-06-0124-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000546292.1:c.5880C>T	p.Cys1960=	p.C1960=	ENST00000546292	NM_173059.1	1960	tgC/tgT	0			1			T	C	uc003uwj.2	protein_coding	YES				5880/8163									ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	c.(5881-5883)TGC>TGT			SMART_domains:SM00216,Pfam_domain:PF00094,hmmpanther:PTHR11339:SF221,hmmpanther:PTHR11339,PROSITE_profiles:PS51233	zonadhesin isoform 3				ENSP00000445943		32/46									COSM3411376,COSM3411377,COSM3411378	32/46	.		ENST00000546292	Transcript			binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		ENSG00000146839	g.chr7:100373053C>T	12857			LOW								--	--	1																																		ZAN_uc003uwk.2_Silent_p.C1961C|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Silent_p.C48C	1,1,1	1			p.C1961C	NM_003386	NP_003377			1,1,1		ZAN	HGNC	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		F5H0T8_HUMAN		33	6048	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		UPI00004575C6	1961			Extracellular (Potential).|VWFD 3.		SNV	ZAN,synonymous_variant,p.=,ENST00000542585,NM_003386.1;ZAN,synonymous_variant,p.=,ENST00000538115,;ZAN,synonymous_variant,p.=,ENST00000546292,NM_173059.1;ZAN,synonymous_variant,p.=,ENST00000546213,;ZAN,missense_variant,p.Ala1961Val,ENST00000427578,;ZAN,missense_variant,p.Ala1961Val,ENST00000449052,;ZAN,missense_variant,p.Ala1961Val,ENST00000349350,;ZAN,missense_variant,p.Ala1961Val,ENST00000443370,;ZAN,missense_variant,p.Ala1961Val,ENST00000421100,;ZAN,missense_variant,p.Ala1961Val,ENST00000348028,;	uc003uwj.2	c.5883C>T	6028/8375	1	1			c.5883C>T						7	SNP	c.(5881-5883)TGC>TGT	6	6			ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Broad	zonadhesin isoform 3			100373053		0.547	ENSG00000146839	17257	g.chr7:100373053C>T	binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane								-10.958586	KEEP	2	2	-1	58	34	2	2	-1	7.611498	58	34	0.047059	1	0	0	0	0	0	0	1	0	--	--		0	T			ZAN_uc003uwk.2_Silent_p.C1961C|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Silent_p.C48C	11	GBM-06-0124-TP	p.C1961C	C	TGAAAGTGTGCCACCCCGCCA	NM_003386	NP_003377	100373053	Q9Y493	ZAN_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.19)		33	6048	+	T	T	Lung NSC(181;0.041)|all_lung(186;0.0581)		Silent	1961			Extracellular (Potential).|VWFD 3.			
ZAN	7455	broad.mit.edu	GRCh37	7	100357434	100357434	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000546292.1:c.3662G>A	p.Ser1221Asn	p.S1221N	ENST00000546292	NM_173059.1	1221	aGc/aAc	0			1			A	S/N	uc003uwj.2	protein_coding	YES				3662/8163									ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	c.(3661-3663)AGC>AAC			SMART_domains:SM00216,Pfam_domain:PF00094,hmmpanther:PTHR11339:SF221,hmmpanther:PTHR11339,PROSITE_profiles:PS51233	zonadhesin isoform 3				ENSP00000445943		17/46									COSM3411368,COSM3411369	17/46	.		ENST00000546292	Transcript			binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		ENSG00000146839	g.chr7:100357434G>A	12857			MODERATE		0.93	low	getma.org/?cm=msa&ty=f&p=ZAN_HUMAN&rb=1156&re=1308&var=S1221N	NA	getma.org/?cm=var&var=hg19,7,100357434,G,A&fts=all	S1221N	--	--	1																																		ZAN_uc003uwk.2_Missense_Mutation_p.S1221N|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_5'Flank	1,1	1		unknown(0)	p.S1221N	NM_003386	NP_003377			1,1		ZAN	HGNC	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		F5H0T8_HUMAN		18	3827	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		UPI00004575C6	1221			VWFD 1.|Extracellular (Potential).		SNV	ZAN,missense_variant,p.Ser1221Asn,ENST00000542585,NM_003386.1;ZAN,missense_variant,p.Ser1221Asn,ENST00000538115,;ZAN,missense_variant,p.Ser1221Asn,ENST00000546292,NM_173059.1;ZAN,5_prime_UTR_variant,,ENST00000546213,;ZAN,missense_variant,p.Ser1221Asn,ENST00000427578,;ZAN,missense_variant,p.Ser1221Asn,ENST00000449052,;ZAN,missense_variant,p.Ser1221Asn,ENST00000349350,;ZAN,missense_variant,p.Ser1221Asn,ENST00000443370,;ZAN,missense_variant,p.Ser1221Asn,ENST00000421100,;ZAN,missense_variant,p.Ser1221Asn,ENST00000348028,;	uc003uwj.2	c.3662G>A	3810/8375	2	2			c.3662G>A						7	SNP	c.(3661-3663)AGC>AAC	36	36			ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Broad	zonadhesin isoform 3			100357434		0.602	ENSG00000146839	17257	g.chr7:100357434G>A	binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane								15.202701	KEEP	7	2	-1	22	16	7	2	-1	18.97046	22	16	0.179487	1	0	0	0	0	1	0	0	0	--	--		0	A			ZAN_uc003uwk.2_Missense_Mutation_p.S1221N|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_5'Flank	46	GBM-06-0209-TP	p.S1221N	G	CTGCCCGAGAGCACCGTCACC	NM_003386	NP_003377	100357434	Q9Y493	ZAN_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.19)		18	3827	+	A	A	Lung NSC(181;0.041)|all_lung(186;0.0581)		Missense_Mutation	1221			VWFD 1.|Extracellular (Potential).			
ZAN	7455	broad.mit.edu	GRCh37	7	100336230	100336230	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01	TCGA-06-2562-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000546292.1:c.760C>T	p.Pro254Ser	p.P254S	ENST00000546292	NM_173059.1	254	Cct/Tct	0			1			T	P/S	uc003uwj.2	protein_coding	YES				760/8163									ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	c.(760-762)CCT>TCT			Low_complexity_(Seg):seg,Superfamily_domains:SSF49899,SMART_domains:SM00137,Pfam_domain:PF00629,PROSITE_profiles:PS50060	zonadhesin isoform 3				ENSP00000445943		Jun-46	1.73E-05	0.000253							rs746268486,COSM3411362,COSM3411363	Jun-46	.		ENST00000546292	Transcript			binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		ENSG00000146839	g.chr7:100336230C>T	12857			MODERATE		1.32	low	getma.org/?cm=msa&ty=f&p=ZAN_HUMAN&rb=211&re=368&var=P254S	NA	getma.org/?cm=var&var=hg19,7,100336230,C,T&fts=all	P254S	--	--	1																																		ZAN_uc003uwk.2_Missense_Mutation_p.P254S|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	0,1,1	1		probably_damaging(0.998)	p.P254S	NM_003386	NP_003377			0,1,1		ZAN	HGNC	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		F5H0T8_HUMAN		7	925	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		UPI00004575C6	254			MAM 2.|Extracellular (Potential).		SNV	ZAN,missense_variant,p.Pro254Ser,ENST00000542585,NM_003386.1;ZAN,missense_variant,p.Pro254Ser,ENST00000538115,;ZAN,missense_variant,p.Pro254Ser,ENST00000546292,NM_173059.1;ZAN,5_prime_UTR_variant,,ENST00000546213,;ZAN,missense_variant,p.Pro254Ser,ENST00000427578,;ZAN,missense_variant,p.Pro254Ser,ENST00000449052,;ZAN,missense_variant,p.Pro254Ser,ENST00000349350,;ZAN,missense_variant,p.Pro254Ser,ENST00000443370,;ZAN,missense_variant,p.Pro254Ser,ENST00000421100,;ZAN,missense_variant,p.Pro254Ser,ENST00000348028,;	uc003uwj.2	c.760C>T	908/8375	1	1			c.760C>T						7	SNP	c.(760-762)CCT>TCT	3	3			ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Broad	zonadhesin isoform 3			100336230		0.577	ENSG00000146839	17257	g.chr7:100336230C>T	binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane								37.25013	KEEP	8	11	-1	40	30	8	11	-1	42.375147	40	30	0.222222	1	0	0	0	0	1	0	0	0	--	--		0	T			ZAN_uc003uwk.2_Missense_Mutation_p.P254S|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	85	GBM-06-2562-TP	p.P254S	C	CTTCTCTAGCCCTGGTAGTGA	NM_003386	NP_003377	100336230	Q9Y493	ZAN_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.19)		7	925	+	T	T	Lung NSC(181;0.041)|all_lung(186;0.0581)		Missense_Mutation	254			MAM 2.|Extracellular (Potential).			
ZAN	7455	broad.mit.edu	GRCh37	7	100382333	100382333	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5415-01	TCGA-06-5415-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000546292.1:c.6708C>T	p.Gly2236=	p.G2236=	ENST00000546292	NM_173059.1	2236	ggC/ggT	0	T:0.0002		1			T	G	uc003uwj.2	protein_coding	YES				6708/8163									ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	c.(6709-6711)GGC>GGT			Superfamily_domains:SSF57567,SMART_domains:SM00181,Gene3D:2.10.25.10,Pfam_domain:PF01826,hmmpanther:PTHR11339:SF221,hmmpanther:PTHR11339	zonadhesin isoform 3			T:0	ENSP00000445943		36/46	8.26E-06	0.000102							rs377384170,COSM3411382,COSM3411383,COSM3411384	36/46	.		ENST00000546292	Transcript			binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		ENSG00000146839	g.chr7:100382333C>T	12857			LOW								--	--	1																																		ZAN_uc003uwk.2_Silent_p.G2237G|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Silent_p.G287G	0,1,1,1	1			p.G2237G	NM_003386	NP_003377			0,1,1,1		ZAN	HGNC	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		F5H0T8_HUMAN		37	6876	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		UPI00004575C6	2237			Extracellular (Potential).|TIL 4.		SNV	ZAN,synonymous_variant,p.=,ENST00000542585,NM_003386.1;ZAN,synonymous_variant,p.=,ENST00000538115,;ZAN,synonymous_variant,p.=,ENST00000546292,NM_173059.1;ZAN,synonymous_variant,p.=,ENST00000546213,;ZAN,missense_variant,p.Ala2237Val,ENST00000427578,;ZAN,missense_variant,p.Ala2237Val,ENST00000449052,;ZAN,missense_variant,p.Ala2237Val,ENST00000349350,;ZAN,missense_variant,p.Ala2237Val,ENST00000443370,;ZAN,missense_variant,p.Ala2237Val,ENST00000421100,;ZAN,missense_variant,p.Ala2237Val,ENST00000348028,;	uc003uwj.2	c.6711C>T	6856/8375	2	2			c.6711C>T						7	SNP	c.(6709-6711)GGC>GGT	17	17			ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Broad	zonadhesin isoform 3			100382333		0.612	ENSG00000146839	17257	g.chr7:100382333C>T	binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane								42.280946	KEEP	10	13	-1	31	35	10	13	-1	47.141118	31	35	0.240506	1	0	0	0	0	0	0	1	0	--	--		0	T			ZAN_uc003uwk.2_Silent_p.G2237G|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Silent_p.G287G	98	GBM-06-5415-TP	p.G2237G	C	GGTGTGAGGGCGCCAAAGTCC	NM_003386	NP_003377	100382333	Q9Y493	ZAN_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.19)		37	6876	+	T	T	Lung NSC(181;0.041)|all_lung(186;0.0581)		Silent	2237			Extracellular (Potential).|TIL 4.			
ZAN	0	broad.mit.edu	GRCh37	7	100377161	100377161	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-16-0846-01	TCGA-16-0846-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000546292.1:c.6408G>A	p.Ala2136=	p.A2136=	ENST00000546292	NM_173059.1	2136	gcG/gcA	0		A:0	1	A:0		A	A	uc003uwj.2	protein_coding	YES				6408/8163									ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	c.(6409-6411)GCG>GCA			SMART_domains:SM00832,Pfam_domain:PF08742,hmmpanther:PTHR11339:SF221,hmmpanther:PTHR11339,PROSITE_profiles:PS51233	zonadhesin isoform 3		A:0		ENSP00000445943	A:0	35/46	0.000149		0.00109	0.000146				0.000589	rs531109918,COSM3411379,COSM3411380,COSM3411381	35/46	common_variant		ENST00000546292	Transcript		A:0.0004	binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		ENSG00000146839	g.chr7:100377161G>A	12857			LOW								--	--	1																																		ZAN_uc003uwk.2_Silent_p.A2137A|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Silent_p.A224A	0,1,1,1	1			p.A2137A	NM_003386	NP_003377	A:0.002		0,1,1,1		ZAN	HGNC	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		F5H0T8_HUMAN		36	6576	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		UPI00004575C6	2137			Extracellular (Potential).|VWFD 3.		SNV	ZAN,synonymous_variant,p.=,ENST00000542585,NM_003386.1;ZAN,synonymous_variant,p.=,ENST00000538115,;ZAN,synonymous_variant,p.=,ENST00000546292,NM_173059.1;ZAN,synonymous_variant,p.=,ENST00000546213,;ZAN,missense_variant,p.Arg2137His,ENST00000427578,;ZAN,missense_variant,p.Arg2137His,ENST00000449052,;ZAN,missense_variant,p.Arg2137His,ENST00000349350,;ZAN,missense_variant,p.Arg2137His,ENST00000443370,;ZAN,missense_variant,p.Arg2137His,ENST00000421100,;ZAN,missense_variant,p.Arg2137His,ENST00000348028,;	uc003uwj.2	c.6411G>A	6556/8375	2	2			c.6411G>A						7	SNP	c.(6409-6411)GCG>GCA	41	41			ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Broad	zonadhesin isoform 3			100377161		0.637	ENSG00000146839	17257	g.chr7:100377161G>A	binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane								34.863142	KEEP	11	2	-1	15	12	11	2	-1	35.475137	15	12	0.361111	1	0	0	0	0	0	0	1	0	--	--		0	A			ZAN_uc003uwk.2_Silent_p.A2137A|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Silent_p.A224A	155	GBM-16-0846-TP	p.A2137A	G	TCCGCAGGGCGCGGGAAAAGT	NM_003386	NP_003377	100377161	Q9Y493	ZAN_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.19)		36	6576	+	A	A	Lung NSC(181;0.041)|all_lung(186;0.0581)		Silent	2137			Extracellular (Potential).|VWFD 3.			
ZAN	0	broad.mit.edu	GRCh37	7	100350019	100350019	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-19-1790-01	TCGA-19-1790-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000546292.1:c.2295delA	p.Lys765AsnfsTer236	p.K765Nfs*236	ENST00000546292	NM_173059.1	764	gAa/ga	0			1			-	E/X	uc003uwj.2	protein_coding	YES				2291/8163									ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	c.(2290-2292)GAAfs			Low_complexity_(Seg):seg	zonadhesin isoform 3				ENSP00000445943		13/46										13/46	.		ENST00000546292	Transcript			binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		ENSG00000146839	g.chr7:100350019delA	12857	4		HIGH								--	--	1																																		ZAN_uc003uwk.2_Frame_Shift_Del_p.E764fs|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA		1			p.E764fs	NM_003386	NP_003377					ZAN	HGNC	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		F5H0T8_HUMAN		14	2456	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		UPI00004575C6	764			66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).		deletion	ZAN,frameshift_variant,p.Lys765AsnfsTer236,ENST00000542585,NM_003386.1;ZAN,frameshift_variant,p.Lys765AsnfsTer236,ENST00000538115,;ZAN,frameshift_variant,p.Lys765AsnfsTer236,ENST00000546292,NM_173059.1;ZAN,5_prime_UTR_variant,,ENST00000546213,;ZAN,frameshift_variant,p.Lys765AsnfsTer236,ENST00000427578,;ZAN,frameshift_variant,p.Lys765AsnfsTer236,ENST00000449052,;ZAN,frameshift_variant,p.Lys765AsnfsTer236,ENST00000349350,;ZAN,frameshift_variant,p.Lys765AsnfsTer236,ENST00000443370,;ZAN,frameshift_variant,p.Lys765AsnfsTer236,ENST00000421100,;ZAN,frameshift_variant,p.Lys765AsnfsTer236,ENST00000348028,;	uc003uwj.2	c.2291delA	2439/8375	5	5			c.2291delA						7	DEL	c.(2290-2292)GAAfs	62	62			ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Broad	zonadhesin isoform 3			100350019		0.527	ENSG00000146839	17257	g.chr7:100350019delA	binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane																					0.2	1	1	0	1	0	0	0	0	0	--	--		0	-			ZAN_uc003uwk.2_Frame_Shift_Del_p.E764fs|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	160	GBM-19-1790-TP	p.E764fs	A	ACCCCCACAGAAAAACCCACC	NM_003386	NP_003377	100350019	Q9Y493	ZAN_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.19)		14	2456	+	-	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		Frame_Shift_Del	764			66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).			
ZAN	7455		GRCh37	7	100364654	100364654	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01	TCGA-76-6662-01																				ENST00000546292.1:c.4634C>T	p.Ser1545Leu	p.S1545L	ENST00000546292	NM_173059.1	1545	tCg/tTg	0																																																																																																																																																																																																																																												
ZAP70	7535	broad.mit.edu	GRCh37	2	98351172	98351172	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01	TCGA-06-0124-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264972.5:c.1079G>A	p.Arg360His	p.R360H	ENST00000264972	NM_001079.3	360	cGc/cAc	0			1			A	R/H	uc002syd.1	protein_coding	YES	CCDS33254.1			1079/1860									lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6	c.(1078-1080)CGC>CAC			Gene3D:3.30.200.20,Pfam_domain:PF07714,PIRSF_domain:PIRSF000604,PROSITE_patterns:PS00107,PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF80,SMART_domains:SM00219,Superfamily_domains:SSF56112	zeta-chain associated protein kinase 70kDa				ENSP00000264972		14-Sep									COSM2149307	14-Sep	.		ENST00000264972	Transcript	1		immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	ENSG00000115085	g.chr2:98351172G>A	12858			MODERATE		0.94	low	getma.org/?cm=msa&ty=f&p=ZAP70_HUMAN&rb=338&re=593&var=R360H	getma.org/pdb.php?prot=ZAP70_HUMAN&from=338&to=593&var=R360H	getma.org/?cm=var&var=hg19,2,98351172,G,A&fts=all	R360H	--	--	1																																		ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.R250H|ZAP70_uc002syf.1_Missense_Mutation_p.R53H	1	1		probably_damaging(0.91)	p.R360H	NM_001079	NP_001070		deleterious(0.01)	1	ZAP70_HUMAN	ZAP70	HGNC	P43403	ZAP70_HUMAN			B4E0E2_HUMAN		9	1286	+			UPI000013C370	360			Protein kinase.		SNV	ZAP70,missense_variant,p.Arg360His,ENST00000264972,NM_001079.3;ZAP70,missense_variant,p.Arg234His,ENST00000442208,;ZAP70,missense_variant,p.Arg53His,ENST00000451498,NM_207519.1;ZAP70,non_coding_transcript_exon_variant,,ENST00000463643,;ZAP70,non_coding_transcript_exon_variant,,ENST00000487283,;ZAP70,downstream_gene_variant,,ENST00000483781,;ZAP70,upstream_gene_variant,,ENST00000495754,;ZAP70,upstream_gene_variant,,ENST00000489250,;ZAP70,downstream_gene_variant,,ENST00000498836,;	uc002syd.1	c.1079G>A	1294/2437	1	1			c.1079G>A						2	SNP	c.(1078-1080)CGC>CAC	64	64			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6	Broad	zeta-chain associated protein kinase 70kDa			98351172		0.637	ENSG00000115085	17258	g.chr2:98351172G>A	immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			138			138	40.763409	KEEP	11	11	-1	49	30	11	11	-1	46.57975	49	30	0.229885	1	0	0	0	0	1	0	0	0	--	--		0	A			ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.R250H|ZAP70_uc002syf.1_Missense_Mutation_p.R53H	11	GBM-06-0124-TP	p.R360H	G	TACCGCATGCGCAAGTATGGC	NM_001079	NP_001070	98351172	P43403	ZAP70_HUMAN	0			9	1286	+	A	A			Missense_Mutation	360			Protein kinase.			
ZAP70	7535	broad.mit.edu	GRCh37	2	98351132	98351132	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01	TCGA-06-2565-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264972.5:c.1039G>A	p.Gly347Ser	p.G347S	ENST00000264972	NM_001079.3	347	Ggc/Agc	0			1			A	G/S	uc002syd.1	protein_coding	YES	CCDS33254.1			1039/1860									lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6	c.(1039-1041)GGC>AGC			Gene3D:3.30.200.20,Pfam_domain:PF07714,PIRSF_domain:PIRSF000604,PROSITE_patterns:PS00107,PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF80,SMART_domains:SM00219,Superfamily_domains:SSF56112	zeta-chain associated protein kinase 70kDa				ENSP00000264972		14-Sep									COSM2152996	14-Sep	.		ENST00000264972	Transcript	1		immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	ENSG00000115085	g.chr2:98351132G>A	12858			MODERATE		3.835	high	getma.org/?cm=msa&ty=f&p=ZAP70_HUMAN&rb=338&re=593&var=G347S	getma.org/pdb.php?prot=ZAP70_HUMAN&from=338&to=593&var=G347S	getma.org/?cm=var&var=hg19,2,98351132,G,A&fts=all	G347S	--	--	1																																		ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.G237S|ZAP70_uc002syf.1_Missense_Mutation_p.G40S	1	1		probably_damaging(1)	p.G347S	NM_001079	NP_001070		deleterious(0)	1	ZAP70_HUMAN	ZAP70	HGNC	P43403	ZAP70_HUMAN			B4E0E2_HUMAN		9	1246	+			UPI000013C370	347			Protein kinase.|ATP (By similarity).		SNV	ZAP70,missense_variant,p.Gly347Ser,ENST00000264972,NM_001079.3;ZAP70,missense_variant,p.Gly221Ser,ENST00000442208,;ZAP70,missense_variant,p.Gly40Ser,ENST00000451498,NM_207519.1;ZAP70,non_coding_transcript_exon_variant,,ENST00000463643,;ZAP70,non_coding_transcript_exon_variant,,ENST00000487283,;ZAP70,downstream_gene_variant,,ENST00000483781,;ZAP70,upstream_gene_variant,,ENST00000495754,;ZAP70,upstream_gene_variant,,ENST00000489250,;ZAP70,downstream_gene_variant,,ENST00000498836,;	uc002syd.1	c.1039G>A	1254/2437	2	2			c.1039G>A						2	SNP	c.(1039-1041)GGC>AGC	47	47			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6	Broad	zeta-chain associated protein kinase 70kDa			98351132		0.622	ENSG00000115085	17258	g.chr2:98351132G>A	immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			138			138	277.932477	KEEP	34	59	-1	44	41	34	59	-1	278.172902	44	41	0.542484	1	0	0	0	0	1	0	0	0	--	--		0	A			ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.G237S|ZAP70_uc002syf.1_Missense_Mutation_p.G40S	88	GBM-06-2565-TP	p.G347S	G	ACTTGGCTGCGGCAACTTTGG	NM_001079	NP_001070	98351132	P43403	ZAP70_HUMAN	0			9	1246	+	A	A			Missense_Mutation	347			Protein kinase.|ATP (By similarity).			
ZAP70	0	broad.mit.edu	GRCh37	2	98354224	98354224	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs150631046		TCGA-12-0615-01	TCGA-12-0615-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264972.5:c.1487G>A	p.Arg496His	p.R496H	ENST00000264972	NM_001079.3	496	cGc/cAc	0	A:0		1			A	R/H	uc002syd.1	protein_coding	YES	CCDS33254.1			1487/1860									lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6	c.(1486-1488)CGC>CAC			Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000604,PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF80,SMART_domains:SM00219,Superfamily_domains:SSF56112	zeta-chain associated protein kinase 70kDa			A:0.0001	ENSP00000264972		14-Dec	8.24E-06					1.50E-05			rs150631046,COSM2153520	14-Dec	.		ENST00000264972	Transcript	1		immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	ENSG00000115085	g.chr2:98354224G>A	12858			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=ZAP70_HUMAN&rb=338&re=593&var=R496H	getma.org/pdb.php?prot=ZAP70_HUMAN&from=338&to=593&var=R496H	getma.org/?cm=var&var=hg19,2,98354224,G,A&fts=all	R496H	--	--	1																																		ZAP70_uc002sye.1_Missense_Mutation_p.R386H|ZAP70_uc002syf.1_Missense_Mutation_p.R189H	0,1	1		probably_damaging(0.953)	p.R496H	NM_001079	NP_001070		tolerated(0.1)	0,1	ZAP70_HUMAN	ZAP70	HGNC	P43403	ZAP70_HUMAN			B4E0E2_HUMAN		12	1694	+			UPI000013C370	496			Protein kinase.		SNV	ZAP70,missense_variant,p.Arg496His,ENST00000264972,NM_001079.3;ZAP70,missense_variant,p.Arg370His,ENST00000442208,;ZAP70,missense_variant,p.Arg189His,ENST00000451498,NM_207519.1;ZAP70,non_coding_transcript_exon_variant,,ENST00000463643,;ZAP70,non_coding_transcript_exon_variant,,ENST00000487283,;ZAP70,non_coding_transcript_exon_variant,,ENST00000495754,;ZAP70,downstream_gene_variant,,ENST00000483781,;ZAP70,upstream_gene_variant,,ENST00000489250,;ZAP70,downstream_gene_variant,,ENST00000498836,;	uc002syd.1	c.1487G>A	1702/2437	1	1			c.1487G>A						2	SNP	c.(1486-1488)CGC>CAC	56	56			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6	Broad	zeta-chain associated protein kinase 70kDa			98354224		0.627	ENSG00000115085	17258	g.chr2:98354224G>A	immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			138			138	275.490315	KEEP	42	56	-1	20	15	42	56	-1	280.674933	20	15	0.725664	1	0	0	0	0	1	0	0	0	--	--		0	A			ZAP70_uc002sye.1_Missense_Mutation_p.R386H|ZAP70_uc002syf.1_Missense_Mutation_p.R189H	117	GBM-12-0615-TP	p.R496H	G	CCCCAGGCCCGCTCAGCAGGG	NM_001079	NP_001070	98354224	P43403	ZAP70_HUMAN	0			12	1694	+	A	A			Missense_Mutation	496			Protein kinase.			
ZAR1	326340	broad.mit.edu	GRCh37	4	48494815	48494815	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-5417-01	TCGA-06-5417-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000327939.4:c.996C>G	p.Cys332Trp	p.C332W	ENST00000327939	NM_175619.2	332	tgC/tgG	0			1			G	C/W	uc003gyd.2	protein_coding	YES	CCDS3483.1			996/1275										0	c.(994-996)TGC>TGG			Pfam_domain:PF13695,hmmpanther:PTHR31054,hmmpanther:PTHR31054:SF2	zygote arrest 1				ENSP00000329803		4-Feb									COSM3409336	4-Feb	.		ENST00000327939	Transcript			multicellular organismal development	cytoplasm|membrane	bile acid:sodium symporter activity	ENSG00000182223	g.chr4:48494815C>G	20436			MODERATE		2.625	medium	getma.org/?cm=msa&ty=f&p=ZAR1_HUMAN&rb=325&re=410&var=C332W	NA	getma.org/?cm=var&var=hg19,4,48494815,C,G&fts=all	C332W	--	--	1																																			1	1		probably_damaging(1)	p.C332W	NM_175619	NP_783318		deleterious(0)	1	ZAR1_HUMAN	ZAR1	HGNC	Q86SH2	ZAR1_HUMAN					2	996	+			UPI000000D8B4	332					SNV	ZAR1,missense_variant,p.Cys332Trp,ENST00000327939,NM_175619.2;FRYL,downstream_gene_variant,,ENST00000358350,NM_015030.1;FRYL,downstream_gene_variant,,ENST00000537810,;FRYL,downstream_gene_variant,,ENST00000264319,;FRYL,downstream_gene_variant,,ENST00000503238,;FRYL,downstream_gene_variant,,ENST00000507873,;SLC10A4,downstream_gene_variant,,ENST00000273861,NM_152679.3;FRYL,downstream_gene_variant,,ENST00000503339,;	uc003gyd.2	c.996C>G	1036/1460	3	3			c.996C>G						4	SNP	c.(994-996)TGC>TGG	10	10				0	Broad	zygote arrest 1			48494815		0.418	ENSG00000182223	17259	g.chr4:48494815C>G	multicellular organismal development	cytoplasm|membrane	bile acid:sodium symporter activity							-21.101952	KEEP	13	14	-1	186	210	13	14	-1	50.830847	186	210	0.059322	1	0	0	0	0	1	0	0	0	--	--		0	G				99	GBM-06-5417-TP	p.C332W	C	ATTACCACTGCAAGGACTGCA	NM_175619	NP_783318	48494815	Q86SH2	ZAR1_HUMAN	0			2	996	+	G	G			Missense_Mutation	332						
ZBBX	0	broad.mit.edu	GRCh37	3	167083682	167083682	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-5955-01	TCGA-19-5955-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392766.2:c.265G>T	p.Val89Phe	p.V89F	ENST00000392766	NM_001199201.1	89	Gtt/Ttt	0			1			A	V/F	uc003fep.2	protein_coding		CCDS3199.2			265/2403									ovary(2)	2	c.(265-267)GTT>TTT				zinc finger, B-box domain containing				ENSP00000376519		21-Jun	1.66E-05					3.08E-05			rs751187105,COSM3408403,COSM3408404	21-Jun	.		ENST00000392766	Transcript				intracellular	zinc ion binding	ENSG00000169064	g.chr3:167083682C>A	26245			MODERATE		0.41	neutral	getma.org/?cm=msa&ty=f&p=ZBBX_HUMAN&rb=1&re=129&var=V89F	NA	getma.org/?cm=var&var=hg19,3,167083682,C,A&fts=all	V89F	--	--	1																																		ZBBX_uc011bpc.1_Missense_Mutation_p.V89F|ZBBX_uc003feq.2_Missense_Mutation_p.V60F	0,1,1			benign(0.04)	p.V89F	NM_024687	NP_078963		tolerated(0.19)	0,1,1	ZBBX_HUMAN	ZBBX	HGNC	A8MT70	ZBBX_HUMAN			F2Z370_HUMAN,C9JVV2_HUMAN		6	588	-			UPI000020A743	89					SNV	ZBBX,missense_variant,p.Val89Phe,ENST00000392766,NM_001199201.1,NM_024687.3;ZBBX,missense_variant,p.Val89Phe,ENST00000455345,;ZBBX,missense_variant,p.Val89Phe,ENST00000307529,;ZBBX,missense_variant,p.Val89Phe,ENST00000392767,;ZBBX,missense_variant,p.Val60Phe,ENST00000392764,NM_001199202.1;ZBBX,missense_variant,p.Val89Phe,ENST00000474464,;ZBBX,downstream_gene_variant,,ENST00000485651,;ZBBX,intron_variant,,ENST00000469220,;ZBBX,downstream_gene_variant,,ENST00000473888,;	uc003fep.2	c.265G>T	606/3250	2	2			c.265G>T						3	SNP	c.(265-267)GTT>TTT	32	32			ovary(2)	2	Broad	zinc finger, B-box domain containing			167083682		0.294	ENSG00000169064	17260	g.chr3:167083682C>A		intracellular	zinc ion binding							20.460231	KEEP	6	4	0.4	21	32	6	4	0.4	26.132802	21	32	0.166667	1	0	0	0	0	1	0	0	0	--	--		0	A			ZBBX_uc011bpc.1_Missense_Mutation_p.V89F|ZBBX_uc003feq.2_Missense_Mutation_p.V60F	175	GBM-19-5955-TP	p.V89F	C	ACCTTAACAACATTTCCTTTA	NM_024687	NP_078963	167083682	A8MT70	ZBBX_HUMAN	0			6	588	-	A	A			Missense_Mutation	89						
ZBBX	0	broad.mit.edu	GRCh37	3	167035369	167035369	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-28-2513-01	TCGA-28-2513-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392766.2:c.1000C>G	p.Leu334Val	p.L334V	ENST00000392766	NM_001199201.1	334	Ctt/Gtt	0			1			C	L/V	uc003fep.2	protein_coding		CCDS3199.2			1000/2403									ovary(2)	2	c.(1000-1002)CTT>GTT				zinc finger, B-box domain containing				ENSP00000376519		13/21									COSM3408401,COSM3408402	13/21	.		ENST00000392766	Transcript				intracellular	zinc ion binding	ENSG00000169064	g.chr3:167035369G>C	26245			MODERATE		1.845	low	getma.org/?cm=msa&ty=f&p=ZBBX_HUMAN&rb=331&re=799&var=L334V	NA	getma.org/?cm=var&var=hg19,3,167035369,G,C&fts=all	L334V	--	--	1																																		ZBBX_uc011bpc.1_Missense_Mutation_p.L334V|ZBBX_uc003feq.2_Missense_Mutation_p.L305V	1,1			possibly_damaging(0.715)	p.L334V	NM_024687	NP_078963		deleterious(0.03)	1,1	ZBBX_HUMAN	ZBBX	HGNC	A8MT70	ZBBX_HUMAN			F2Z370_HUMAN,C9JVV2_HUMAN		13	1323	-			UPI000020A743	334					SNV	ZBBX,missense_variant,p.Leu334Val,ENST00000392766,NM_001199201.1,NM_024687.3;ZBBX,missense_variant,p.Leu334Val,ENST00000455345,;ZBBX,missense_variant,p.Leu334Val,ENST00000307529,;ZBBX,missense_variant,p.Leu334Val,ENST00000392767,;ZBBX,missense_variant,p.Leu305Val,ENST00000392764,NM_001199202.1;ZBBX,intron_variant,,ENST00000469220,;	uc003fep.2	c.1000C>G	1341/3250	4	4			c.1000C>G						3	SNP	c.(1000-1002)CTT>GTT	48	48			ovary(2)	2	Broad	zinc finger, B-box domain containing			167035369		0.348	ENSG00000169064	17260	g.chr3:167035369G>C		intracellular	zinc ion binding							41.95493	KEEP	9	13	-1	77	83	9	13	-1	64.309306	77	83	0.127273	1	0	0	0	0	1	0	0	0	--	--		0	C			ZBBX_uc011bpc.1_Missense_Mutation_p.L334V|ZBBX_uc003feq.2_Missense_Mutation_p.L305V	213	GBM-28-2513-TP	p.L334V	G	ATTTTAAAAAGTTGCTCTTGT	NM_024687	NP_078963	167035369	A8MT70	ZBBX_HUMAN	0			13	1323	-	C	C			Missense_Mutation	334						
ZBED2	0	broad.mit.edu	GRCh37	3	111312849	111312849	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4210-01	TCGA-32-4210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317012.4:c.200G>A	p.Arg67His	p.R67H	ENST00000317012	NM_024508.4	67	cGt/cAt	0	T:0	T:0	1	T:0		T	R/H	uc003dxy.2	protein_coding	YES	CCDS2960.2			200/657									skin(1)	1	c.(199-201)CGT>CAT			Pfam_domain:PF02892,PROSITE_profiles:PS50808,SMART_domains:SM00614,Superfamily_domains:SSF57667	zinc finger, BED domain containing 2		T:0	T:0.0001	ENSP00000321370	T:0	2-Feb	6.59E-05		8.64E-05	0.000116		4.50E-05		0.000182	rs370143176,COSM3117772	2-Feb	.		ENST00000317012	Transcript		T:0.0002			DNA binding|metal ion binding	ENSG00000177494	g.chr3:111312849C>T	20710			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=ZBED2_HUMAN&rb=55&re=107&var=R67H	getma.org/pdb.php?prot=ZBED2_HUMAN&from=55&to=107&var=R67H	getma.org/?cm=var&var=hg19,3,111312849,C,T&fts=all	R67H	--	--	1																																		CD96_uc003dxv.2_Intron|CD96_uc003dxw.2_Intron|CD96_uc003dxx.2_Intron|CD96_uc010hpy.1_Intron	0,1	1		probably_damaging(0.91)	p.R67H	NM_024508	NP_078784	T:0.001	tolerated(0.11)	0,1	ZBED2_HUMAN	ZBED2	HGNC	Q9BTP6	ZBED2_HUMAN					2	1085	-			UPI0000374509	67			BED-type.		SNV	ZBED2,missense_variant,p.Arg67His,ENST00000317012,NM_024508.4;CD96,intron_variant,,ENST00000352690,NM_005816.4;CD96,intron_variant,,ENST00000283285,NM_198196.2;CD96,intron_variant,,ENST00000438817,;CD96,intron_variant,,ENST00000494798,;	uc003dxy.2	c.200G>A	1209/2311	2	2			c.200G>A						3	SNP	c.(199-201)CGT>CAT	44	44			skin(1)	1	Broad	zinc finger, BED domain containing 2			111312849		0.612	ENSG00000177494	17261	g.chr3:111312849C>T			DNA binding|metal ion binding							64.048896	KEEP	10	20	-1	47	51	10	20	-1	71.304132	47	51	0.239316	1	0	0	0	0	1	0	0	0	--	--		0	T			CD96_uc003dxv.2_Intron|CD96_uc003dxw.2_Intron|CD96_uc003dxx.2_Intron|CD96_uc010hpy.1_Intron	245	GBM-32-4210-TP	p.R67H	C	GTGCCCAGCACGAGCAGGAGC	NM_024508	NP_078784	111312849	Q9BTP6	ZBED2_HUMAN	0			2	1085	-	T	T			Missense_Mutation	67			BED-type.			
ZBED2	0	broad.mit.edu	GRCh37	3	111312907	111312907	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01	TCGA-74-6573-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317012.4:c.142C>T	p.His48Tyr	p.H48Y	ENST00000317012	NM_024508.4	48	Cac/Tac	0			1			A	H/Y	uc003dxy.2	protein_coding	YES	CCDS2960.2			142/657									skin(1)	1	c.(142-144)CAC>TAC				zinc finger, BED domain containing 2				ENSP00000321370		2-Feb									COSM3408110	2-Feb	.		ENST00000317012	Transcript					DNA binding|metal ion binding	ENSG00000177494	g.chr3:111312907G>A	20710			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=ZBED2_HUMAN&rb=1&re=54&var=H48Y	NA	getma.org/?cm=var&var=hg19,3,111312907,G,A&fts=all	H48Y	--	--	1																																		CD96_uc003dxv.2_Intron|CD96_uc003dxw.2_Intron|CD96_uc003dxx.2_Intron|CD96_uc010hpy.1_Intron	1	1		benign(0.007)	p.H48Y	NM_024508	NP_078784		tolerated(1)	1	ZBED2_HUMAN	ZBED2	HGNC	Q9BTP6	ZBED2_HUMAN					2	1027	-			UPI0000374509	48					SNV	ZBED2,missense_variant,p.His48Tyr,ENST00000317012,NM_024508.4;CD96,intron_variant,,ENST00000352690,NM_005816.4;CD96,intron_variant,,ENST00000283285,NM_198196.2;CD96,intron_variant,,ENST00000438817,;CD96,intron_variant,,ENST00000494798,;	uc003dxy.2	c.142C>T	1151/2311	1	1			c.142C>T						3	SNP	c.(142-144)CAC>TAC	57	57			skin(1)	1	Broad	zinc finger, BED domain containing 2			111312907		0.552	ENSG00000177494	17261	g.chr3:111312907G>A			DNA binding|metal ion binding							15.472808	KEEP	6	5	-1	36	45	6	5	-1	27.072144	36	45	0.127907	1	0	0	0	0	1	0	0	0	--	--		0	A			CD96_uc003dxv.2_Intron|CD96_uc003dxw.2_Intron|CD96_uc003dxx.2_Intron|CD96_uc010hpy.1_Intron	260	GBM-74-6573-TP	p.H48Y	G	CCCTTGTTGTGGGGCATTGGA	NM_024508	NP_078784	111312907	Q9BTP6	ZBED2_HUMAN	0			2	1027	-	A	A			Missense_Mutation	48						
ZBP1	0	broad.mit.edu	GRCh37	20	56190589	56190589	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01	TCGA-16-0846-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371173.3:c.307C>T	p.Pro103Ser	p.P103S	ENST00000371173	NM_001160417.1	103	Cct/Tct	0			1			A	P/S	uc002xyo.2	protein_coding	YES	CCDS13461.1			307/1290									ovary(2)	2	c.(307-309)CCT>TCT			hmmpanther:PTHR14966,Gene3D:1.10.10.10,SMART_domains:SM00550	Z-DNA binding protein 1 isoform a				ENSP00000360215		8-Mar									COSM3405229,COSM3405230	8-Mar	.		ENST00000371173	Transcript				cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding	ENSG00000124256	g.chr20:56190589G>A	16176			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=ZBP1_HUMAN&rb=70&re=104&var=P103S	NA	getma.org/?cm=var&var=hg19,20,56190589,G,A&fts=all	P103S	--	--	1																																		ZBP1_uc010gjm.2_Missense_Mutation_p.P103S|ZBP1_uc002xyp.2_Missense_Mutation_p.P28S|ZBP1_uc010zzn.1_Missense_Mutation_p.P103S	1,1	1		probably_damaging(0.968)	p.P103S	NM_030776	NP_110403		tolerated(0.38)	1,1	ZBP1_HUMAN	ZBP1	HGNC	Q9H171	ZBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)				3	588	-	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		UPI000013CB5B	103			DRADA 2.		SNV	ZBP1,missense_variant,p.Pro103Ser,ENST00000371173,NM_001160417.1,NM_030776.2;ZBP1,missense_variant,p.Pro28Ser,ENST00000395822,NM_001160418.1;ZBP1,missense_variant,p.Pro103Ser,ENST00000343535,;ZBP1,missense_variant,p.Pro103Ser,ENST00000541799,NM_001160419.2;ZBP1,intron_variant,,ENST00000340462,;ZBP1,non_coding_transcript_exon_variant,,ENST00000538947,;ZBP1,non_coding_transcript_exon_variant,,ENST00000432548,;ZBP1,non_coding_transcript_exon_variant,,ENST00000546110,;ZBP1,non_coding_transcript_exon_variant,,ENST00000461547,;ZBP1,non_coding_transcript_exon_variant,,ENST00000480037,;	uc002xyo.2	c.307C>T	485/2195	2	2			c.307C>T						20	SNP	c.(307-309)CCT>TCT	35	35			ovary(2)	2	Broad	Z-DNA binding protein 1 isoform a			56190589		0.592	ENSG00000124256	17263	g.chr20:56190589G>A		cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding							91.407138	KEEP	21	12	-1	46	36	21	12	-1	94.671111	46	36	0.31068	1	0	0	0	0	1	0	0	0	--	--		0	A			ZBP1_uc010gjm.2_Missense_Mutation_p.P103S|ZBP1_uc002xyp.2_Missense_Mutation_p.P28S|ZBP1_uc010zzn.1_Missense_Mutation_p.P103S	155	GBM-16-0846-TP	p.P103S	G	CTGAACTGAGGGCCAGGGGTC	NM_030776	NP_110403	56190589	Q9H171	ZBP1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)		3	588	-	A	A	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		Missense_Mutation	103			DRADA 2.			
ZBTB10	0	broad.mit.edu	GRCh37	8	81431744	81431744	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-12-3650-01	TCGA-12-3650-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000430430.1:c.2597G>T	p.Cys866Phe	p.C866F	ENST00000430430		866	tGt/tTt	0			1			T	C/F	uc003ybx.3	protein_coding	YES	CCDS47880.1			2597/2616									lung(1)	1	c.(2596-2598)TGT>TTT			hmmpanther:PTHR24414,hmmpanther:PTHR24414:SF27	zinc finger and BTB domain containing 10 isoform				ENSP00000387462		7-Jul									COSM3413130	7-Jul	.		ENST00000430430	Transcript			transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000205189	g.chr8:81431744G>T	30953			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=ZBT10_HUMAN&rb=825&re=869&var=C866F	NA	getma.org/?cm=var&var=hg19,8,81431744,G,T&fts=all	C866F	--	--	1																																		ZBTB10_uc003ybv.3_Missense_Mutation_p.C574F|ZBTB10_uc003ybw.3_Missense_Mutation_p.C842F|ZBTB10_uc010lzt.2_Missense_Mutation_p.C864F	1	1		benign(0.099)	p.C866F	NM_001105539	NP_001099009		deleterious_low_confidence(0)	1	ZBT10_HUMAN	ZBTB10	HGNC	Q96DT7	ZBT10_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)				6	3195	+	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		UPI0000E5AEF3	866					SNV	ZBTB10,missense_variant,p.Cys866Phe,ENST00000430430,;ZBTB10,missense_variant,p.Cys842Phe,ENST00000426744,NM_023929.4;ZBTB10,missense_variant,p.Cys866Phe,ENST00000455036,NM_001105539.2;ZBTB10,missense_variant,p.Cys574Phe,ENST00000379091,NM_001277145.1;	uc003ybx.3	c.2597G>T	3376/10132	1	1			c.2597G>T						8	SNP	c.(2596-2598)TGT>TTT	5	5			lung(1)	1	Broad	zinc finger and BTB domain containing 10 isoform			81431744		0.408	ENSG00000205189	17265	g.chr8:81431744G>T	transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							33.748353	KEEP	4	8	0.333333333	9	5	4	8	0.333333333	33.833306	9	5	0.434783	1	0	0	0	0	1	0	0	0	--	--		0	T			ZBTB10_uc003ybv.3_Missense_Mutation_p.C574F|ZBTB10_uc003ybw.3_Missense_Mutation_p.C842F|ZBTB10_uc010lzt.2_Missense_Mutation_p.C864F	126	GBM-12-3650-TP	p.C866F	G	GGAGAAGTTTGTATGTCTCTA	NM_001105539	NP_001099009	81431744	Q96DT7	ZBT10_HUMAN	0	BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)		6	3195	+	T	T	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		Missense_Mutation	866						
ZBTB12	0	broad.mit.edu	GRCh37	6	31868436	31868436	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2615-01	TCGA-32-2615-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375527.2:c.647C>T	p.Ala216Val	p.A216V	ENST00000375527	NM_181842.2	216	gCc/gTc	0			1			A	A/V	uc003nyd.1	protein_coding	YES	CCDS4727.1			647/1380										0	c.(646-648)GCC>GTC			hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF45	zinc finger and BTB domain containing 12				ENSP00000364677		2-Feb									COSM3410955	2-Feb	.		ENST00000375527	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000204366	g.chr6:31868436G>A	19066			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=ZBT12_HUMAN&rb=170&re=309&var=A216V	NA	getma.org/?cm=var&var=hg19,6,31868436,G,A&fts=all	A216V	--	--	1																																		EHMT2_uc003nxz.1_5'Flank|EHMT2_uc003nya.1_5'Flank|EHMT2_uc003nyb.1_5'Flank|C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|C2_uc011dop.1_5'Flank	1	1		possibly_damaging(0.483)	p.A216V	NM_181842	NP_862825		tolerated(0.25)	1	ZBT12_HUMAN	ZBTB12	HGNC	Q9Y330	ZBT12_HUMAN					2	823	-			UPI000000DA6C	216					SNV	ZBTB12,missense_variant,p.Ala216Val,ENST00000375527,NM_181842.2;C2,intron_variant,,ENST00000469372,NM_001282457.1;C2,intron_variant,,ENST00000497706,;EHMT2,upstream_gene_variant,,ENST00000395728,;EHMT2,upstream_gene_variant,,ENST00000375528,;EHMT2,upstream_gene_variant,,ENST00000375537,NM_006709.3;EHMT2,upstream_gene_variant,,ENST00000375530,NM_025256.5;C2,upstream_gene_variant,,ENST00000452323,NM_001178063.1;C2,upstream_gene_variant,,ENST00000452202,;EHMT2,upstream_gene_variant,,ENST00000480912,;EHMT2,upstream_gene_variant,,ENST00000465429,;	uc003nyd.1	c.647C>T	823/1875	1	1			c.647C>T						6	SNP	c.(646-648)GCC>GTC	62	62				0	Broad	zinc finger and BTB domain containing 12			31868436		0.627	ENSG00000204366	17267	g.chr6:31868436G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-32.944501	KEEP	1	4	-1	100	85	1	4	-1	6.81012	100	85	0.025157	1	0	0	0	0	1	0	0	0	--	--		0	A			EHMT2_uc003nxz.1_5'Flank|EHMT2_uc003nya.1_5'Flank|EHMT2_uc003nyb.1_5'Flank|C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|C2_uc011dop.1_5'Flank	239	GBM-32-2615-TP	p.A216V	G	CACCTCCAGGGCCGACTCCAC	NM_181842	NP_862825	31868436	Q9Y330	ZBT12_HUMAN	0			2	823	-	A	A			Missense_Mutation	216						
ZBTB17	0	broad.mit.edu	GRCh37	1	16268633	16268633	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-6700-01	TCGA-06-6700-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375743.4:c.2243A>G	p.Gln748Arg	p.Q748R	ENST00000375743	NM_003443.2	748	cAg/cGg	0			1			C	Q/R	uc001axl.3	protein_coding	YES	CCDS165.1			2243/2412										0	c.(2242-2244)CAG>CGG			hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF165	zinc finger and BTB domain containing 17				ENSP00000364895		16/16									COSM3399933,COSM3399934	16/16	.		ENST00000375743	Transcript			negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000116809	g.chr1:16268633T>C	12936			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=ZBT17_HUMAN&rb=741&re=803&var=Q748R	NA	getma.org/?cm=var&var=hg19,1,16268633,T,C&fts=all	Q748R	--	--	1																																		ZBTB17_uc010obq.1_Missense_Mutation_p.Q665R|ZBTB17_uc010obr.1_Missense_Mutation_p.Q755R|ZBTB17_uc010obs.1_Missense_Mutation_p.Q672R	1,1	1		possibly_damaging(0.838)	p.Q748R	NM_003443	NP_003434		deleterious(0)	1,1	ZBT17_HUMAN	ZBTB17	HGNC	Q13105	ZBT17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)			16	2482	-		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	UPI000013C9D2	748			Interaction with HCFC1.		SNV	ZBTB17,missense_variant,p.Gln755Arg,ENST00000375733,NM_001287603.1;ZBTB17,missense_variant,p.Gln748Arg,ENST00000375743,NM_003443.2,NM_001287604.1;ZBTB17,missense_variant,p.Gln666Arg,ENST00000537142,NM_001242884.1;ZBTB17,missense_variant,p.Gln155Arg,ENST00000440560,;SPEN,downstream_gene_variant,,ENST00000375759,NM_015001.2;ZBTB17,downstream_gene_variant,,ENST00000448462,;ZBTB17,downstream_gene_variant,,ENST00000444358,;ZBTB17,non_coding_transcript_exon_variant,,ENST00000462525,;ZBTB17,downstream_gene_variant,,ENST00000479282,;ZBTB17,downstream_gene_variant,,ENST00000492834,;ZBTB17,downstream_gene_variant,,ENST00000494020,;ZBTB17,downstream_gene_variant,,ENST00000474511,;ZBTB17,downstream_gene_variant,,ENST00000490899,;ZBTB17,downstream_gene_variant,,ENST00000472658,;ZBTB17,downstream_gene_variant,,ENST00000471805,;SPEN,downstream_gene_variant,,ENST00000487496,;ZBTB17,downstream_gene_variant,,ENST00000464719,;ZBTB17,downstream_gene_variant,,ENST00000488008,;ZBTB17,downstream_gene_variant,,ENST00000487785,;	uc001axl.3	c.2243A>G	2476/2745	4	4			c.2243A>G						1	SNP	c.(2242-2244)CAG>CGG	47	47				0	Broad	zinc finger and BTB domain containing 17			16268633		0.627	ENSG00000116809	17269	g.chr1:16268633T>C	negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							40.327874	KEEP	8	12	-1	35	41	8	12	-1	47.85084	35	41	0.195402	1	0	0	0	0	1	0	0	0	--	--		0	C			ZBTB17_uc010obq.1_Missense_Mutation_p.Q665R|ZBTB17_uc010obr.1_Missense_Mutation_p.Q755R|ZBTB17_uc010obs.1_Missense_Mutation_p.Q672R	114	GBM-06-6700-TP	p.Q748R	T	CGCGTCTGTCTGGAACATGAC	NM_003443	NP_003434	16268633	Q13105	ZBT17_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	16	2482	-	C	C		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	748			Interaction with HCFC1.			
ZBTB2	0	broad.mit.edu	GRCh37	6	151687420	151687420	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01	TCGA-14-1395-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000325144.4:c.781C>T	p.Arg261Trp	p.R261W	ENST00000325144	NM_020861.1	261	Cgg/Tgg	0			1			A	R/W	uc003qoh.2	protein_coding	YES	CCDS5231.1			781/1545									skin(1)	1	c.(781-783)CGG>TGG			PROSITE_profiles:PS50157,hmmpanther:PTHR24399,hmmpanther:PTHR24399:SF0,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger and BTB domain containing 2				ENSP00000323183		3-Mar									COSM3019323	3-Mar	.		ENST00000325144	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000181472	g.chr6:151687420G>A	20868			MODERATE		1.705	low	getma.org/?cm=msa&ty=f&p=ZBTB2_HUMAN&rb=234&re=296&var=R261W	NA	getma.org/?cm=var&var=hg19,6,151687420,G,A&fts=all	R261W	--	--	1																																			1	1		probably_damaging(0.998)	p.R261W	NM_020861	NP_065912		deleterious(0.01)	1	ZBTB2_HUMAN	ZBTB2	HGNC	Q8N680	ZBTB2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)	Q658W5_HUMAN		3	916	-			UPI00000728EE	261			C2H2-type 1.		SNV	ZBTB2,missense_variant,p.Arg261Trp,ENST00000325144,NM_020861.1;	uc003qoh.2	c.781C>T	922/3090	1	1			c.781C>T						6	SNP	c.(781-783)CGG>TGG	62	62			skin(1)	1	Broad	zinc finger and BTB domain containing 2			151687420		0.557	ENSG00000181472	17270	g.chr6:151687420G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							153.200069	KEEP	34	22	-1	36	19	34	22	-1	153.217947	36	19	0.485981	1	0	0	0	0	1	0	0	0	--	--		0	A				144	GBM-14-1395-TP	p.R261W	G	GTGAAGCGCCGTCCACACAGG	NM_020861	NP_065912	151687420	Q8N680	ZBTB2_HUMAN	0	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)	3	916	-	A	A			Missense_Mutation	261			C2H2-type 1.			
ZBTB2	57621		GRCh37	6	151687542	151687542	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000325144.4:c.659C>A	p.Thr220Asn	p.T220N	ENST00000325144	NM_020861.1	220	aCc/aAc	0																																																																																																																																																																																																																																												
ZBTB20	26137	broad.mit.edu	GRCh37	3	114069362	114069362	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0132-01	TCGA-06-0132-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000474710.1:c.1563del	p.Lys522SerfsTer19	p.K522Sfs*19	ENST00000474710	NM_001164342.1	521	ccC/cc	0			1			-	P/X	uc003ebi.2	protein_coding	YES	CCDS54626.1			1563/2226									ovary(4)|skin(1)	5	c.(1561-1563)CCCfs			hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF351	zinc finger and BTB domain containing 20 isoform				ENSP00000419153		5-Apr										5-Apr	.		ENST00000474710	Transcript	1		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000181722	g.chr3:114069362delG	13503			HIGH								--	--	1																																		ZBTB20_uc003ebj.2_Frame_Shift_Del_p.P448fs|ZBTB20_uc010hqp.2_Frame_Shift_Del_p.P448fs|ZBTB20_uc003ebk.2_Frame_Shift_Del_p.P448fs|ZBTB20_uc003ebl.2_Frame_Shift_Del_p.P448fs|ZBTB20_uc003ebm.2_Frame_Shift_Del_p.P448fs|ZBTB20_uc003ebn.2_Frame_Shift_Del_p.P448fs|uc003ebo.1_5'Flank		1			p.P521fs	NM_015642	NP_056457				ZBT20_HUMAN	ZBTB20	HGNC	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	C9JCX0_HUMAN		4	1743	-			UPI0000141957	521					deletion	ZBTB20,frameshift_variant,p.Lys449SerfsTer19,ENST00000462705,NM_001164343.1;ZBTB20,frameshift_variant,p.Lys449SerfsTer19,ENST00000393785,NM_001164346.1;ZBTB20,frameshift_variant,p.Lys449SerfsTer19,ENST00000471418,NM_001164345.1;ZBTB20,frameshift_variant,p.Lys449SerfsTer19,ENST00000357258,NM_015642.4;ZBTB20,frameshift_variant,p.Lys449SerfsTer19,ENST00000464560,NM_001164344.1;ZBTB20,frameshift_variant,p.Lys449SerfsTer19,ENST00000481632,NM_001164347.1;ZBTB20,frameshift_variant,p.Lys522SerfsTer19,ENST00000474710,NM_001164342.1;ZBTB20,downstream_gene_variant,,ENST00000470311,;ZBTB20-AS1,upstream_gene_variant,,ENST00000475939,;ZBTB20-AS1,upstream_gene_variant,,ENST00000467304,;ZBTB20-AS1,upstream_gene_variant,,ENST00000496219,;ZBTB20,intron_variant,,ENST00000479879,;	uc003ebi.2	c.1563delC	1742/2757	5	5			c.1563delC						3	DEL	c.(1561-1563)CCCfs	55	55			ovary(4)|skin(1)	5	Broad	zinc finger and BTB domain containing 20 isoform			114069362		0.627	ENSG00000181722	17271	g.chr3:114069362delG	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	NSCLC(69;748 1344 9802 11203 30933)			NSCLC(69;748 1344 9802 11203 30933)																0.11	1	1	0	1	0	0	0	0	0	--	--		0	-			ZBTB20_uc003ebj.2_Frame_Shift_Del_p.P448fs|ZBTB20_uc010hqp.2_Frame_Shift_Del_p.P448fs|ZBTB20_uc003ebk.2_Frame_Shift_Del_p.P448fs|ZBTB20_uc003ebl.2_Frame_Shift_Del_p.P448fs|ZBTB20_uc003ebm.2_Frame_Shift_Del_p.P448fs|ZBTB20_uc003ebn.2_Frame_Shift_Del_p.P448fs|uc003ebo.1_5'Flank	17	GBM-06-0132-TP	p.P521fs	G	GGAAAGGCTTGGGGCCACTGC	NM_015642	NP_056457	114069362	Q9HC78	ZBT20_HUMAN	0		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	4	1743	-	-	-			Frame_Shift_Del	521						
ZBTB24	9841		GRCh37	6	109787239	109787239	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000230122.3:c.1909G>A	p.Val637Met	p.V637M	ENST00000230122	NM_014797.2	637	Gtg/Atg	0																																																																																																																																																																																																																																												
ZBTB25	7597	broad.mit.edu	GRCh37	14	64953897	64953897	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000608382.1:c.1052G>A	p.Cys351Tyr	p.C351Y	ENST00000608382	NM_006977.2	351	tGt/tAt	0			1			T	C/Y	uc001xhf.2	protein_coding		CCDS9765.1			1052/1308									ovary(1)|skin(1)	2	c.(1051-1053)TGT>TAT			Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF6,PROSITE_profiles:PS50157	zinc finger protein 46				ENSP00000378204		6-Jun	8.24E-06					1.50E-05			rs759665443,COSM2151428	6-Jun	.		ENST00000394715	Transcript				cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000089775	g.chr14:64953897C>T	13112			MODERATE		2.635	medium	getma.org/?cm=msa&ty=f&p=ZBT25_HUMAN&rb=329&re=391&var=C351Y	NA	getma.org/?cm=var&var=hg19,14,64953897,C,T&fts=all	C351Y	--	--	1																																		ZBTB25_uc001xhc.2_Intron|ZBTB25_uc001xhg.2_Missense_Mutation_p.C351Y	0,1			probably_damaging(1)	p.C351Y	NM_006977	NP_008908		deleterious(0)	0,1	ZBT25_HUMAN	ZBTB25	HGNC	P24278	ZBT25_HUMAN		all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)			3	1235	-			UPI0000074252	351			C2H2-type 2.		SNV	ZBTB25,missense_variant,p.Cys351Tyr,ENST00000608382,NM_006977.2;ZBTB25,missense_variant,p.Cys351Tyr,ENST00000394715,;ZBTB25,missense_variant,p.Cys64Tyr,ENST00000555424,;ZBTB25,intron_variant,,ENST00000555220,;	uc001xhf.2	c.1052G>A	1754/2094	1	1			c.1052G>A						14	SNP	c.(1051-1053)TGT>TAT	4	4			ovary(1)|skin(1)	2	Broad	zinc finger protein 46			64953897		0.368	ENSG00000089775	17274	g.chr14:64953897C>T		cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							115.042248	KEEP	26	34	-1	65	53	26	34	-1	118.329226	65	53	0.346154	1	0	0	0	0	1	0	0	0	--	--		0	T			ZBTB25_uc001xhc.2_Intron|ZBTB25_uc001xhg.2_Missense_Mutation_p.C351Y	62	GBM-06-0649-TP	p.C351Y	C	ACAGATGGTACAGCTCATTTT	NM_006977	NP_008908	64953897	P24278	ZBT25_HUMAN	0		all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)	3	1235	-	T	T			Missense_Mutation	351			C2H2-type 2.			
ZBTB34	0	broad.mit.edu	GRCh37	9	129643102	129643102	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-32-4210-01	TCGA-32-4210-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373452.2:c.1412T>G	p.Val471Gly	p.V471G	ENST00000373452		471	gTg/gGg	0			1			G	V/G	uc004bqm.3	protein_coding	YES	CCDS48023.1			1412/1503									ovary(1)	1	c.(1411-1413)GTG>GGG			hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF44	zinc finger and BTB domain containing 34				ENSP00000362551		1-Jan									COSM3413337	1-Jan	.		ENST00000373452	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000177125	g.chr9:129643102T>G	31446			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=ZBT34_HUMAN&rb=439&re=500&var=V471G	NA	getma.org/?cm=var&var=hg19,9,129643102,T,G&fts=all	V471G	--	--	1																																			1	1		benign(0)	p.V471G	NM_001099270	NP_001092740		tolerated_low_confidence(0.53)	1	ZBT34_HUMAN	ZBTB34	HGNC	Q8NCN2	ZBT34_HUMAN					2	1509	+			UPI00004031FA	471					SNV	ZBTB34,missense_variant,p.Val475Gly,ENST00000319119,NM_001099270.1;ZBTB34,missense_variant,p.Val471Gly,ENST00000373452,;	uc004bqm.3	c.1412T>G	1476/6528	4	4			c.1412T>G						9	SNP	c.(1411-1413)GTG>GGG	32	32			ovary(1)	1	Broad	zinc finger and BTB domain containing 34			129643102		0.507	ENSG00000177125	17279	g.chr9:129643102T>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							114.398198	KEEP	14	19	-1	18	16	14	19	-1	114.401509	18	16	0.492308	1	0	0	0	0	1	0	0	0	--	--		0	G				245	GBM-32-4210-TP	p.V471G	T	GATGTGTACGTGGAACAGAAA	NM_001099270	NP_001092740	129643102	Q8NCN2	ZBT34_HUMAN	0			2	1509	+	G	G			Missense_Mutation	471						
ZBTB38	0	broad.mit.edu	GRCh37	3	141162963	141162963	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-26-1442-01	TCGA-26-1442-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321464.5:c.1736A>G	p.Tyr579Cys	p.Y579C	ENST00000321464		579	tAt/tGt	0			1			G	Y/C	uc003etw.2	protein_coding					1736/3591									ovary(3)	3	c.(1732-1734)TAT>TGT			hmmpanther:PTHR24397,hmmpanther:PTHR24397:SF23	zinc finger and BTB domain containing 38				ENSP00000372635		2-Feb	8.28E-06					1.50E-05			rs747459711,COSM3124660	2-Feb	.		ENST00000321464	Transcript	1		positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000177311	g.chr3:141162963A>G	26636			MODERATE		2.045	medium	getma.org/?cm=msa&ty=f&p=ZBT38_HUMAN&rb=527&re=726&var=Y578C	NA	getma.org/?cm=var&var=hg19,3,141162963,A,G&fts=all	Y578C	--	--	1																																		ZBTB38_uc010hun.2_Missense_Mutation_p.Y575C|ZBTB38_uc010huo.2_Missense_Mutation_p.Y578C|ZBTB38_uc003ety.2_Missense_Mutation_p.Y578C|ZBTB38_uc010hup.2_Missense_Mutation_p.Y579C	0,1			probably_damaging(0.999)	p.Y578C	NM_001080412	NP_001073881		deleterious(0)	0,1		ZBTB38	HGNC	Q8NAP3	ZBT38_HUMAN			Q9H6F0_HUMAN,J3KPK6_HUMAN,D6RJE1_HUMAN,D6RHD1_HUMAN,D6RGK1_HUMAN,D6RE69_HUMAN,D6RC86_HUMAN,D6RBC4_HUMAN,D6RAC4_HUMAN,D6R9U6_HUMAN,D6R9J6_HUMAN,D6R9I1_HUMAN,B3KST1_HUMAN		8	2715	+			UPI0002064F68	578					SNV	ZBTB38,missense_variant,p.Tyr578Cys,ENST00000514251,;ZBTB38,missense_variant,p.Tyr578Cys,ENST00000441582,;ZBTB38,missense_variant,p.Tyr579Cys,ENST00000321464,;ZBTB38,missense_variant,p.Tyr578Cys,ENST00000509883,;ZBTB38,downstream_gene_variant,,ENST00000509842,NM_001080412.2;ZBTB38,downstream_gene_variant,,ENST00000510726,;ZBTB38,downstream_gene_variant,,ENST00000509813,;ZBTB38,downstream_gene_variant,,ENST00000513570,;ZBTB38,downstream_gene_variant,,ENST00000510338,;ZBTB38,downstream_gene_variant,,ENST00000507722,;ZBTB38,downstream_gene_variant,,ENST00000513258,;ZBTB38,downstream_gene_variant,,ENST00000504673,;ZBTB38,downstream_gene_variant,,ENST00000503809,;ZBTB38,upstream_gene_variant,,ENST00000512769,;	uc003etw.2	c.1733A>G	1783/3650	4	4			c.1733A>G						3	SNP	c.(1732-1734)TAT>TGT	18	18			ovary(3)	3	Broad	zinc finger and BTB domain containing 38			141162963		0.408	ENSG00000177311	17281	g.chr3:141162963A>G	positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							15.729258	KEEP	2	8	-1	45	39	2	8	-1	27.908576	45	39	0.117647	1	0	0	0	0	1	0	0	0	--	--		0	G			ZBTB38_uc010hun.2_Missense_Mutation_p.Y575C|ZBTB38_uc010huo.2_Missense_Mutation_p.Y578C|ZBTB38_uc003ety.2_Missense_Mutation_p.Y578C|ZBTB38_uc010hup.2_Missense_Mutation_p.Y579C	180	GBM-26-1442-TP	p.Y578C	A	AGAGCCCCTTATAAGAGCTAC	NM_001080412	NP_001073881	141162963	Q8NAP3	ZBT38_HUMAN	0			8	2715	+	G	G			Missense_Mutation	578						
ZBTB38	0	broad.mit.edu	GRCh37	3	141163945	141163945	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6192-01	TCGA-76-6192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321464.5:c.2718C>T	p.Asp906=	p.D906=	ENST00000321464		906	gaC/gaT	0			1			T	D	uc003etw.2	protein_coding					2718/3591									ovary(3)	3	c.(2713-2715)GAC>GAT			hmmpanther:PTHR24397,hmmpanther:PTHR24397:SF23	zinc finger and BTB domain containing 38				ENSP00000372635		2-Feb	8.27E-06					1.50E-05			rs376715153,COSM3408291	2-Feb	.		ENST00000321464	Transcript	1		positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000177311	g.chr3:141163945C>T	26636			LOW								--	--	1																																		ZBTB38_uc010hun.2_Silent_p.D902D|ZBTB38_uc010huo.2_Silent_p.D905D|ZBTB38_uc003ety.2_Silent_p.D905D|ZBTB38_uc010hup.2_Silent_p.D906D	0,1				p.D905D	NM_001080412	NP_001073881			0,1		ZBTB38	HGNC	Q8NAP3	ZBT38_HUMAN			Q9H6F0_HUMAN,J3KPK6_HUMAN,D6RJE1_HUMAN,D6RHD1_HUMAN,D6RGK1_HUMAN,D6RE69_HUMAN,D6RC86_HUMAN,D6RBC4_HUMAN,D6RAC4_HUMAN,D6R9U6_HUMAN,D6R9J6_HUMAN,D6R9I1_HUMAN,B3KST1_HUMAN		8	3697	+			UPI0002064F68	905					SNV	ZBTB38,synonymous_variant,p.=,ENST00000514251,;ZBTB38,synonymous_variant,p.=,ENST00000441582,;ZBTB38,synonymous_variant,p.=,ENST00000321464,;ZBTB38,downstream_gene_variant,,ENST00000509883,;ZBTB38,downstream_gene_variant,,ENST00000509842,NM_001080412.2;ZBTB38,downstream_gene_variant,,ENST00000510726,;ZBTB38,downstream_gene_variant,,ENST00000509813,;ZBTB38,downstream_gene_variant,,ENST00000513570,;ZBTB38,downstream_gene_variant,,ENST00000510338,;ZBTB38,downstream_gene_variant,,ENST00000507722,;ZBTB38,downstream_gene_variant,,ENST00000513258,;ZBTB38,downstream_gene_variant,,ENST00000504673,;ZBTB38,downstream_gene_variant,,ENST00000503809,;ZBTB38,upstream_gene_variant,,ENST00000512769,;	uc003etw.2	c.2715C>T	2765/3650	2	2			c.2715C>T						3	SNP	c.(2713-2715)GAC>GAT	24	24			ovary(3)	3	Broad	zinc finger and BTB domain containing 38			141163945		0.498	ENSG00000177311	17281	g.chr3:141163945C>T	positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							-1.508576	KEEP	2	1	-1	17	29	2	1	-1	6.708434	17	29	0.069767	1	0	0	0	0	0	0	1	0	--	--		0	T			ZBTB38_uc010hun.2_Silent_p.D902D|ZBTB38_uc010huo.2_Silent_p.D905D|ZBTB38_uc003ety.2_Silent_p.D905D|ZBTB38_uc010hup.2_Silent_p.D906D	275	GBM-76-6192-TP	p.D905D	C	TGTTCGATGACGCAAGTGACC	NM_001080412	NP_001073881	141163945	Q8NAP3	ZBT38_HUMAN	0			8	3697	+	T	T			Silent	905						
ZBTB39	0	broad.mit.edu	GRCh37	12	57398062	57398062	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-12-0821-01	TCGA-12-0821-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300101.2:c.640A>C	p.Thr214Pro	p.T214P	ENST00000300101	NM_014830.2	214	Acc/Ccc	0			1			G	T/P	uc001sml.1	protein_coding	YES	CCDS31839.1			640/2139									breast(1)	1	c.(640-642)ACC>CCC			hmmpanther:PTHR24385,hmmpanther:PTHR24385:SF46	zinc finger and BTB domain containing 39				ENSP00000300101		2-Feb	7.41E-05				0.000772	1.50E-05			rs775949750,COSM3747926	2-Feb	common_variant		ENST00000300101	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000166860	g.chr12:57398062T>G	29014			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=ZBT39_HUMAN&rb=146&re=319&var=T214P	NA	getma.org/?cm=var&var=hg19,12,57398062,T,G&fts=all	T214P	--	--	1																																		RDH16_uc010sqx.1_5'Flank	0,1	1		benign(0.001)	p.T214P	NM_014830	NP_055645		tolerated(0.28)	0,1	ZBT39_HUMAN	ZBTB39	HGNC	O15060	ZBT39_HUMAN					2	726	-			UPI0000139682	214					SNV	ZBTB39,missense_variant,p.Thr214Pro,ENST00000300101,NM_014830.2;	uc001sml.1	c.640A>C	726/6170	4	4			c.640A>C						12	SNP	c.(640-642)ACC>CCC	32	32			breast(1)	1	Broad	zinc finger and BTB domain containing 39			57398062		0.572	ENSG00000166860	17282	g.chr12:57398062T>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-52.059462	KEEP	37	15	-1	184	95	37	15	-1	6.457442	184	95	0.03629	1	0	0	0	0	1	0	0	0	--	--		0	G			RDH16_uc010sqx.1_5'Flank	123	GBM-12-0821-TP	p.T214P	T	GGAGCAGGGGTGTCATGGTCT	NM_014830	NP_055645	57398062	O15060	ZBT39_HUMAN	0			2	726	-	G	G			Missense_Mutation	214						
ZBTB39	0	broad.mit.edu	GRCh37	12	57397937	57397937	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300101.2:c.765C>A	p.Phe255Leu	p.F255L	ENST00000300101	NM_014830.2	255	ttC/ttA	0			1			T	F/L	uc001sml.1	protein_coding	YES	CCDS31839.1			765/2139									breast(1)	1	c.(763-765)TTC>TTA			hmmpanther:PTHR24385,hmmpanther:PTHR24385:SF46	zinc finger and BTB domain containing 39				ENSP00000300101		2-Feb									COSM3398917	2-Feb	.		ENST00000300101	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000166860	g.chr12:57397937G>T	29014			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=ZBT39_HUMAN&rb=146&re=319&var=F255L	NA	getma.org/?cm=var&var=hg19,12,57397937,G,T&fts=all	F255L	--	--	1																																		RDH16_uc010sqx.1_5'Flank	1	1		probably_damaging(0.965)	p.F255L	NM_014830	NP_055645		tolerated(0.14)	1	ZBT39_HUMAN	ZBTB39	HGNC	O15060	ZBT39_HUMAN					2	851	-			UPI0000139682	255					SNV	ZBTB39,missense_variant,p.Phe255Leu,ENST00000300101,NM_014830.2;	uc001sml.1	c.765C>A	851/6170	2	2			c.765C>A						12	SNP	c.(763-765)TTC>TTA	32	32			breast(1)	1	Broad	zinc finger and BTB domain containing 39			57397937		0.517	ENSG00000166860	17282	g.chr12:57397937G>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-19.366804	KEEP	1	2	0.333333333	50	70	1	2	0.333333333	6.320664	50	70	0.028571	1	0	0	0	0	1	0	0	0	--	--		0	T			RDH16_uc010sqx.1_5'Flank	160	GBM-19-1790-TP	p.F255L	G	TGTTTTTACTGAAGTCTCCAT	NM_014830	NP_055645	57397937	O15060	ZBT39_HUMAN	0			2	851	-	T	T			Missense_Mutation	255						
ZBTB39	9880		GRCh37	12	57396726	57396726	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-2510-01	TCGA-28-2510-01																				ENST00000300101.2:c.1976T>C	p.Leu659Pro	p.L659P	ENST00000300101	NM_014830.2	659	cTc/cCc	0																																																																																																																																																																																																																																												
ZBTB39	9880		GRCh37	12	57396685	57396685	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-6664-01	TCGA-76-6664-01																				ENST00000300101.2:c.2017C>A	p.Leu673Ile	p.L673I	ENST00000300101	NM_014830.2	673	Ctt/Att	0																																																																																																																																																																																																																																												
ZBTB40	0	broad.mit.edu	GRCh37	1	22835047	22835047	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-28-5218-01	TCGA-28-5218-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375647.4:c.1522G>T	p.Asp508Tyr	p.D508Y	ENST00000375647	NM_014870.3	508	Gac/Tac	0			1			T	D/Y	uc001bft.2	protein_coding		CCDS224.1			1522/3720									ovary(1)	1	c.(1522-1524)GAC>TAC			hmmpanther:PTHR24394,hmmpanther:PTHR24394:SF0	zinc finger and BTB domain containing 40				ENSP00000364798		18-Aug									COSM3400378	18-Aug	.		ENST00000375647	Transcript			bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000184677	g.chr1:22835047G>T	29045			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=ZBT40_HUMAN&rb=317&re=516&var=D508Y	NA	getma.org/?cm=var&var=hg19,1,22835047,G,T&fts=all	D508Y	--	--	1																																		ZBTB40_uc001bfu.2_Missense_Mutation_p.D508Y|ZBTB40_uc009vqi.1_Missense_Mutation_p.D396Y|ZBTB40_uc001bfv.1_Missense_Mutation_p.D137Y	1			unknown(0)	p.D508Y	NM_001083621	NP_001077090		deleterious(0)	1	ZBT40_HUMAN	ZBTB40	HGNC	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	B1AKC8_HUMAN		9	2033	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	UPI0000204652	508					SNV	ZBTB40,missense_variant,p.Asp508Tyr,ENST00000404138,NM_001083621.1;ZBTB40,missense_variant,p.Asp508Tyr,ENST00000375647,NM_014870.3;ZBTB40,missense_variant,p.Asp396Tyr,ENST00000374651,;ZBTB40,downstream_gene_variant,,ENST00000400239,;	uc001bft.2	c.1522G>T	1729/8685	2	2			c.1522G>T						1	SNP	c.(1522-1524)GAC>TAC	29	29			ovary(1)	1	Broad	zinc finger and BTB domain containing 40			22835047		0.483	ENSG00000184677	17284	g.chr1:22835047G>T	bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							352.376092	KEEP	73	61	0.544776119	41	37	73	61	0.544776119	355.05174	41	37	0.629834	1	0	0	0	0	1	0	0	0	--	--		0	T			ZBTB40_uc001bfu.2_Missense_Mutation_p.D508Y|ZBTB40_uc009vqi.1_Missense_Mutation_p.D396Y|ZBTB40_uc001bfv.1_Missense_Mutation_p.D137Y	224	GBM-28-5218-TP	p.D508Y	G	TGTGAAACGTGACTCTGGTTC	NM_001083621	NP_001077090	22835047	Q9NUA8	ZBT40_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	9	2033	+	T	T		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	Missense_Mutation	508						
ZBTB7B	51043		GRCh37	1	154987218	154987218	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000417934.2:c.184C>T	p.Arg62Cys	p.R62C	ENST00000417934	NM_001252406.2	62	Cgc/Tgc	0																																																																																																																																																																																																																																												
ZBTB7C	201501	broad.mit.edu	GRCh37	18	45567452	45567452	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0185-01	TCGA-06-0185-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000588982.1:c.27T>C	p.Ile9=	p.I9=	ENST00000588982		9	atT/atC	0			1			G	I	uc002lda.2	protein_coding		CCDS32830.1			27/1860									ovary(1)	1	c.(25-27)ATT>ATC			hmmpanther:PTHR11389:SF361,hmmpanther:PTHR11389	zinc finger and BTB domain containing 7C				ENSP00000439781		3-Feb									COSM2150501	3-Feb	.		ENST00000535628	Transcript				intracellular	nucleic acid binding|zinc ion binding	ENSG00000184828	g.chr18:45567452A>G	31700			LOW								--	--	1																																		ZBTB7C_uc002ldb.2_Silent_p.I9I|ZBTB7C_uc010dnu.2_Silent_p.I18I|ZBTB7C_uc010dnv.2_Silent_p.I31I|ZBTB7C_uc010dnw.2_Silent_p.I9I|ZBTB7C_uc010dnx.1_Silent_p.I9I|ZBTB7C_uc010dny.1_Silent_p.I9I|ZBTB7C_uc010dnz.1_Silent_p.I31I|ZBTB7C_uc010dob.1_Silent_p.I9I|ZBTB7C_uc010doc.1_Silent_p.I18I|ZBTB7C_uc010dod.1_Silent_p.I31I|ZBTB7C_uc010doe.1_Silent_p.I9I|ZBTB7C_uc010dof.1_Silent_p.I9I|ZBTB7C_uc010dog.1_Silent_p.I9I|ZBTB7C_uc010doh.1_Silent_p.I18I|ZBTB7C_uc010doi.1_Silent_p.I9I|ZBTB7C_uc010doj.1_Silent_p.I18I|ZBTB7C_uc010dok.1_Silent_p.I58I|ZBTB7C_uc010dol.1_Silent_p.I18I|ZBTB7C_uc010doa.1_Silent_p.I31I|ZBTB7C_uc010don.1_Silent_p.I17I|ZBTB7C_uc010doo.1_Silent_p.I9I|ZBTB7C_uc010dop.1_Silent_p.I9I|ZBTB7C_uc010doq.1_Silent_p.I18I|ZBTB7C_uc010dor.1_Silent_p.I31I|ZBTB7C_uc010dos.1_Silent_p.I9I|ZBTB7C_uc010dot.1_Silent_p.I9I|ZBTB7C_uc010dou.1_Silent_p.I18I|ZBTB7C_uc010dom.1_Silent_p.I18I	1				p.I9I	NM_001039360	NP_001034449			1	ZBT7C_HUMAN	ZBTB7C	HGNC	A1YPR0	ZBT7C_HUMAN			B2RGG0_HUMAN,B2RG63_HUMAN,B2RG49_HUMAN		1	43	-			UPI0000073FE3	9					SNV	ZBTB7C,synonymous_variant,p.=,ENST00000588982,;ZBTB7C,synonymous_variant,p.=,ENST00000590800,;ZBTB7C,synonymous_variant,p.=,ENST00000586438,;ZBTB7C,synonymous_variant,p.=,ENST00000535628,NM_001039360.2;ZBTB7C,synonymous_variant,p.=,ENST00000332053,;ZBTB7C,synonymous_variant,p.=,ENST00000589170,;ZBTB7C,synonymous_variant,p.=,ENST00000589194,;ZBTB7C,synonymous_variant,p.=,ENST00000587107,;ZBTB7C,synonymous_variant,p.=,ENST00000592656,;ZBTB7C,synonymous_variant,p.=,ENST00000590374,;ZBTB7C,synonymous_variant,p.=,ENST00000585404,;ZBTB7C,synonymous_variant,p.=,ENST00000588970,;ZBTB7C,synonymous_variant,p.=,ENST00000588053,;ZBTB7C,synonymous_variant,p.=,ENST00000590178,;ZBTB7C,synonymous_variant,p.=,ENST00000590855,;ZBTB7C,synonymous_variant,p.=,ENST00000589619,;ZBTB7C,synonymous_variant,p.=,ENST00000586743,;ZBTB7C,synonymous_variant,p.=,ENST00000593159,;ZBTB7C,synonymous_variant,p.=,ENST00000588149,;ZBTB7C,synonymous_variant,p.=,ENST00000588028,;ZBTB7C,synonymous_variant,p.=,ENST00000591526,;ZBTB7C,synonymous_variant,p.=,ENST00000590437,;ZBTB7C,synonymous_variant,p.=,ENST00000591279,;ZBTB7C,synonymous_variant,p.=,ENST00000588566,;ZBTB7C,synonymous_variant,p.=,ENST00000589077,;ZBTB7C,synonymous_variant,p.=,ENST00000591405,;ZBTB7C,synonymous_variant,p.=,ENST00000592387,;ZBTB7C,synonymous_variant,p.=,ENST00000586525,;ZBTB7C,synonymous_variant,p.=,ENST00000586047,;	uc002lda.2	c.27T>C	398/4818	3	3			c.27T>C						18	SNP	c.(25-27)ATT>ATC	49	49			ovary(1)	1	Broad	zinc finger and BTB domain containing 7C			45567452		0.582	ENSG00000184828	17297	g.chr18:45567452A>G		intracellular	nucleic acid binding|zinc ion binding							76.150123	KEEP	16	16	-1	28	37	16	16	-1	78.381043	28	37	0.320513	1	0	0	0	0	0	0	1	0	--	--		0	G			ZBTB7C_uc002ldb.2_Silent_p.I9I|ZBTB7C_uc010dnu.2_Silent_p.I18I|ZBTB7C_uc010dnv.2_Silent_p.I31I|ZBTB7C_uc010dnw.2_Silent_p.I9I|ZBTB7C_uc010dnx.1_Silent_p.I9I|ZBTB7C_uc010dny.1_Silent_p.I9I|ZBTB7C_uc010dnz.1_Silent_p.I31I|ZBTB7C_uc010dob.1_Silent_p.I9I|ZBTB7C_uc010doc.1_Silent_p.I18I|ZBTB7C_uc010dod.1_Silent_p.I31I|ZBTB7C_uc010doe.1_Silent_p.I9I|ZBTB7C_uc010dof.1_Silent_p.I9I|ZBTB7C_uc010dog.1_Silent_p.I9I|ZBTB7C_uc010doh.1_Silent_p.I18I|ZBTB7C_uc010doi.1_Silent_p.I9I|ZBTB7C_uc010doj.1_Silent_p.I18I|ZBTB7C_uc010dok.1_Silent_p.I58I|ZBTB7C_uc010dol.1_Silent_p.I18I|ZBTB7C_uc010doa.1_Silent_p.I31I|ZBTB7C_uc010don.1_Silent_p.I17I|ZBTB7C_uc010doo.1_Silent_p.I9I|ZBTB7C_uc010dop.1_Silent_p.I9I|ZBTB7C_uc010doq.1_Silent_p.I18I|ZBTB7C_uc010dor.1_Silent_p.I31I|ZBTB7C_uc010dos.1_Silent_p.I9I|ZBTB7C_uc010dot.1_Silent_p.I9I|ZBTB7C_uc010dou.1_Silent_p.I18I|ZBTB7C_uc010dom.1_Silent_p.I18I	40	GBM-06-0185-TP	p.I9I	A	AGGGAATGCCAATGAGCTCAT	NM_001039360	NP_001034449	45567452	A1YPR0	ZBT7C_HUMAN	0			1	43	-	G	G			Silent	9						
ZBTB7C	201501		GRCh37	18	45566526	45566526	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000588982.1:c.953C>T	p.Pro318Leu	p.P318L	ENST00000588982		318	cCg/cTg	0																																																																																																																																																																																																																																												
ZC2HC1A	51101		GRCh37	8	79590915	79590915	+	splice_donor_variant	Splice_Site	SNP	G	G	A			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000263849.4:c.210+1G>A		p.X70_splice	ENST00000263849	NM_016010.2	70		0																																																																																																																																																																																																																																												
ZC3H11A	0	broad.mit.edu	GRCh37	1	203818961	203818961	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2624-01	TCGA-19-2624-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332127.4:c.1746G>A	p.Arg582=	p.R582=	ENST00000332127		582	cgG/cgA	0			1			A	R	uc001hac.2	protein_coding		CCDS30978.1			1746/2433									lung(1)|central_nervous_system(1)	2	c.(1744-1746)CGG>CGA			hmmpanther:PTHR15725,hmmpanther:PTHR15725:SF2	zinc finger CCCH-type containing 11A				ENSP00000333253		17/20									COSM2156244	17/20	.		ENST00000332127	Transcript					nucleic acid binding|protein binding|zinc ion binding	ENSG00000058673	g.chr1:203818961G>A	29093			LOW								--	--	1																																		ZC3H11A_uc001had.2_Silent_p.R582R|ZC3H11A_uc001hae.2_Silent_p.R582R|ZC3H11A_uc001haf.2_Silent_p.R582R|ZC3H11A_uc010pqm.1_Silent_p.R528R|ZC3H11A_uc001hag.1_Silent_p.R582R	1				p.R582R	NM_014827	NP_055642			1	ZC11A_HUMAN	ZC3H11A	HGNC	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		E9PBY7_HUMAN,C9J0L0_HUMAN,B4DLG2_HUMAN		17	2362	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		UPI000006F3FD	582					SNV	ZC3H11A,synonymous_variant,p.=,ENST00000545588,NM_001271675.1;ZC3H11A,synonymous_variant,p.=,ENST00000332127,;ZC3H11A,synonymous_variant,p.=,ENST00000367210,;ZC3H11A,synonymous_variant,p.=,ENST00000367214,;ZC3H11A,synonymous_variant,p.=,ENST00000367212,NM_014827.4;ZC3H11A,downstream_gene_variant,,ENST00000453771,;ZC3H11A,upstream_gene_variant,,ENST00000488411,;ZC3H11A,synonymous_variant,p.=,ENST00000495527,;	uc001hac.2	c.1746G>A	2603/5015	2	2			c.1746G>A						1	SNP	c.(1744-1746)CGG>CGA	21	21			lung(1)|central_nervous_system(1)	2	Broad	zinc finger CCCH-type containing 11A			203818961		0.493	ENSG00000058673	17302	g.chr1:203818961G>A			nucleic acid binding|protein binding|zinc ion binding							221.143659	KEEP	35	33	-1	41	27	35	33	-1	221.171333	41	27	0.515385	1	0	0	0	0	0	0	1	0	--	--		0	A			ZC3H11A_uc001had.2_Silent_p.R582R|ZC3H11A_uc001hae.2_Silent_p.R582R|ZC3H11A_uc001haf.2_Silent_p.R582R|ZC3H11A_uc010pqm.1_Silent_p.R528R|ZC3H11A_uc001hag.1_Silent_p.R582R	164	GBM-19-2624-TP	p.R582R	G	CACCTCTTCGGGGAGATGTAG	NM_014827	NP_055642	203818961	O75152	ZC11A_HUMAN	0	BRCA - Breast invasive adenocarcinoma(75;0.109)		17	2362	+	A	A	all_cancers(21;0.0904)|all_epithelial(62;0.234)		Silent	582						
ZC3H12A	80149	broad.mit.edu	GRCh37	1	37948728	37948728	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0130-01	TCGA-06-0130-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373087.6:c.1316G>A	p.Gly439Asp	p.G439D	ENST00000373087	NM_025079.2	439	gGc/gAc	0			1			A	G/D	uc001cbb.3	protein_coding	YES	CCDS417.1			1316/1800									ovary(2)	2	c.(1315-1317)GGC>GAC			hmmpanther:PTHR12876:SF10,hmmpanther:PTHR12876	zinc finger CCCH-type containing 12A				ENSP00000362179		6-Jun									COSM3400730	6-Jun	.		ENST00000373087	Transcript			angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	ENSG00000163874	g.chr1:37948728G>A	26259			MODERATE		2.095	medium	getma.org/?cm=msa&ty=f&p=ZC12A_HUMAN&rb=291&re=490&var=G439D	NA	getma.org/?cm=var&var=hg19,1,37948728,G,A&fts=all	G439D	--	--	1																																		ZC3H12A_uc001cbc.1_Missense_Mutation_p.G234D	1	1		probably_damaging(1)	p.G439D	NM_025079	NP_079355		deleterious(0)	1	ZC12A_HUMAN	ZC3H12A	HGNC	Q5D1E8	ZC12A_HUMAN			C0LED9_HUMAN		6	1466	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	UPI000004D30E	439					SNV	ZC3H12A,missense_variant,p.Gly439Asp,ENST00000373087,NM_025079.2;ZC3H12A,downstream_gene_variant,,ENST00000471012,;ZC3H12A,downstream_gene_variant,,ENST00000472312,;	uc001cbb.3	c.1316G>A	1432/2684	1	1			c.1316G>A						1	SNP	c.(1315-1317)GGC>GAC	49	49			ovary(2)	2	Broad	zinc finger CCCH-type containing 12A			37948728		0.662	ENSG00000163874	17303	g.chr1:37948728G>A	angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding							-3.816967	KEEP	2	1	-1	26	28	2	1	-1	6.579044	26	28	0.058824	1	0	0	0	0	1	0	0	0	--	--		0	A			ZC3H12A_uc001cbc.1_Missense_Mutation_p.G234D	16	GBM-06-0130-TP	p.G439D	G	CTGGACTCGGGCATTGGCTCC	NM_025079	NP_079355	37948728	Q5D1E8	ZC12A_HUMAN	0			6	1466	+	A	A		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	Missense_Mutation	439						
ZC3H12A	0	broad.mit.edu	GRCh37	1	37948876	37948876	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-16-0846-01	TCGA-16-0846-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373087.6:c.1464C>T	p.Gly488=	p.G488=	ENST00000373087	NM_025079.2	488	ggC/ggT	0			1			T	G	uc001cbb.3	protein_coding	YES	CCDS417.1			1464/1800									ovary(2)	2	c.(1462-1464)GGC>GGT			hmmpanther:PTHR12876:SF10,hmmpanther:PTHR12876	zinc finger CCCH-type containing 12A				ENSP00000362179		6-Jun									COSM3400731	6-Jun	.		ENST00000373087	Transcript			angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	ENSG00000163874	g.chr1:37948876C>T	26259			LOW								--	--	1																																		ZC3H12A_uc001cbc.1_Silent_p.G283G	1	1			p.G488G	NM_025079	NP_079355			1	ZC12A_HUMAN	ZC3H12A	HGNC	Q5D1E8	ZC12A_HUMAN			C0LED9_HUMAN		6	1614	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	UPI000004D30E	488			Pro-rich.		SNV	ZC3H12A,synonymous_variant,p.=,ENST00000373087,NM_025079.2;ZC3H12A,downstream_gene_variant,,ENST00000471012,;ZC3H12A,downstream_gene_variant,,ENST00000472312,;	uc001cbb.3	c.1464C>T	1580/2684	2	2			c.1464C>T						1	SNP	c.(1462-1464)GGC>GGT	34	34			ovary(2)	2	Broad	zinc finger CCCH-type containing 12A			37948876		0.662	ENSG00000163874	17303	g.chr1:37948876C>T	angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding							-30.836673	KEEP	2	2	-1	87	85	2	2	-1	6.315764	87	85	0.026667	1	0	0	0	0	0	0	1	0	--	--		0	T			ZC3H12A_uc001cbc.1_Silent_p.G283G	155	GBM-16-0846-TP	p.G488G	C	CTGCCTTTGGCCGGGCCATGG	NM_025079	NP_079355	37948876	Q5D1E8	ZC12A_HUMAN	0			6	1614	+	T	T		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	Silent	488			Pro-rich.			
ZC3H12B	0	broad.mit.edu	GRCh37	X	64722205	64722205	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338957.4:c.1627C>A	p.His543Asn	p.H543N	ENST00000338957	NM_001010888.3	543	Cat/Aat	0			1			A	H/N	uc010nko.2	protein_coding	YES	CCDS48131.2			1627/2511									lung(1)|kidney(1)|pancreas(1)	3	c.(1594-1596)CAT>AAT			hmmpanther:PTHR12876:SF27,hmmpanther:PTHR12876	zinc finger CCCH-type containing 12B				ENSP00000340839		5-May									COSM757857,COSM757858	5-May	.		ENST00000338957	Transcript					endonuclease activity|nucleic acid binding|zinc ion binding	ENSG00000102053	g.chrX:64722205C>A	17407			MODERATE		1.87	low	getma.org/?cm=msa&ty=f&p=ZC12B_HUMAN&rb=377&re=823&var=H532N	NA	getma.org/?cm=var&var=hg19,X,64722205,C,A&fts=all	H532N	--	--	1																																			1,1	1		benign(0.027)	p.H532N	NM_001010888	NP_001010888		tolerated(0.31)	1,1		ZC3H12B	HGNC	Q5HYM0	ZC12B_HUMAN			E9PAJ6_HUMAN		5	1603	+			UPI00001D7BEA	532					SNV	ZC3H12B,missense_variant,p.His543Asn,ENST00000338957,NM_001010888.3;ZC3H12B,missense_variant,p.His532Asn,ENST00000423889,;	uc010nko.2	c.1594C>A	1694/7256	1	1			c.1594C>A						23	SNP	c.(1594-1596)CAT>AAT	57	57			lung(1)|kidney(1)|pancreas(1)	3	Broad	zinc finger CCCH-type containing 12B			64722205		0.478	ENSG00000102053	17304	g.chrX:64722205C>A			endonuclease activity|nucleic acid binding|zinc ion binding							225.73111	KEEP	36	42	0.538461538	38	46	36	42	0.538461538	225.820958	38	46	0.474359	1	0	0	0	0	1	0	0	0	--	--		0	A				218	GBM-28-5209-TP	p.H532N	C	CATGGGGGACCATGGCTACTA	NM_001010888	NP_001010888	64722205	Q5HYM0	ZC12B_HUMAN	0			5	1603	+	A	A			Missense_Mutation	532						
ZC3H12B	0	broad.mit.edu	GRCh37	X	64721739	64721739	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-2494-01	TCGA-32-2494-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338957.4:c.1161G>A	p.Ser387=	p.S387=	ENST00000338957	NM_001010888.3	387	tcG/tcA	0			1			A	S	uc010nko.2	protein_coding	YES	CCDS48131.2			1161/2511									lung(1)|kidney(1)|pancreas(1)	3	c.(1126-1128)TCG>TCA			hmmpanther:PTHR12876:SF27,hmmpanther:PTHR12876	zinc finger CCCH-type containing 12B				ENSP00000340839		5-May									COSM3406521,COSM3406522	5-May	.		ENST00000338957	Transcript					endonuclease activity|nucleic acid binding|zinc ion binding	ENSG00000102053	g.chrX:64721739G>A	17407			LOW								--	--	1																																			1,1	1			p.S376S	NM_001010888	NP_001010888			1,1		ZC3H12B	HGNC	Q5HYM0	ZC12B_HUMAN			E9PAJ6_HUMAN		5	1137	+			UPI00001D7BEA	376					SNV	ZC3H12B,synonymous_variant,p.=,ENST00000338957,NM_001010888.3;ZC3H12B,synonymous_variant,p.=,ENST00000423889,;	uc010nko.2	c.1128G>A	1228/7256	2	2			c.1128G>A						23	SNP	c.(1126-1128)TCG>TCA	45	45			lung(1)|kidney(1)|pancreas(1)	3	Broad	zinc finger CCCH-type containing 12B			64721739		0.527	ENSG00000102053	17304	g.chrX:64721739G>A			endonuclease activity|nucleic acid binding|zinc ion binding							13.867457	KEEP	5	1	-1	6	11	5	1	-1	14.667102	6	11	0.277778	1	0	0	0	0	0	0	1	0	--	--		0	A				236	GBM-32-2494-TP	p.S376S	G	CCCAGCGTTCGGTGGCTGATG	NM_001010888	NP_001010888	64721739	Q5HYM0	ZC12B_HUMAN	0			5	1137	+	A	A			Silent	376						
ZC3H12B	0	broad.mit.edu	GRCh37	X	64722249	64722249	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-4213-01	TCGA-32-4213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000338957.4:c.1671C>T	p.Ile557=	p.I557=	ENST00000338957	NM_001010888.3	557	atC/atT	0			1			T	I	uc010nko.2	protein_coding	YES	CCDS48131.2			1671/2511									lung(1)|kidney(1)|pancreas(1)	3	c.(1636-1638)ATC>ATT			hmmpanther:PTHR12876:SF27,hmmpanther:PTHR12876	zinc finger CCCH-type containing 12B				ENSP00000340839		5-May									COSM3406523,COSM3406524	5-May	.		ENST00000338957	Transcript					endonuclease activity|nucleic acid binding|zinc ion binding	ENSG00000102053	g.chrX:64722249C>T	17407			LOW								--	--	1																																			1,1	1			p.I546I	NM_001010888	NP_001010888			1,1		ZC3H12B	HGNC	Q5HYM0	ZC12B_HUMAN			E9PAJ6_HUMAN		5	1647	+			UPI00001D7BEA	546					SNV	ZC3H12B,synonymous_variant,p.=,ENST00000338957,NM_001010888.3;ZC3H12B,synonymous_variant,p.=,ENST00000423889,;	uc010nko.2	c.1638C>T	1738/7256	2	2			c.1638C>T						23	SNP	c.(1636-1638)ATC>ATT	18	18			lung(1)|kidney(1)|pancreas(1)	3	Broad	zinc finger CCCH-type containing 12B			64722249		0.483	ENSG00000102053	17304	g.chrX:64722249C>T			endonuclease activity|nucleic acid binding|zinc ion binding							-0.729209	KEEP	2	5	-1	33	50	2	5	-1	14.086039	33	50	0.083333	1	0	0	0	0	0	0	1	0	--	--		0	T				247	GBM-32-4213-TP	p.I546I	C	AACTGAACATCAACAGCATGC	NM_001010888	NP_001010888	64722249	Q5HYM0	ZC12B_HUMAN	0			5	1647	+	T	T			Silent	546						
ZC3H12D	340152	broad.mit.edu	GRCh37	6	149795611	149795611	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-02-0055-01	TCGA-02-0055-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409806.3:c.69G>T	p.Val23=	p.V23=	ENST00000409806		23	gtG/gtT	0			1			A	V	uc003qmn.1	protein_coding	YES				69/1584										0	c.(67-69)GTG>GTT			hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF11	zinc finger CCCH-type containing 12D				ENSP00000386616		6-Feb									COSM3410654	6-Feb	.		ENST00000409806	Transcript				cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding	ENSG00000178199	g.chr6:149795611C>A	21175			LOW								--	--	1																																		PPIL4_uc010kic.2_Intron|ZC3H12D_uc003qmm.2_Silent_p.V23V|ZC3H12D_uc010kid.2_Silent_p.V23V	1	1			p.V23V	NM_207360	NP_997243			1	ZC12D_HUMAN	ZC3H12D	HGNC	A2A288	ZC12D_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)			1	139	-		Ovarian(120;0.0907)	UPI00002377F7	23					SNV	ZC3H12D,synonymous_variant,p.=,ENST00000389942,;ZC3H12D,synonymous_variant,p.=,ENST00000416573,NM_207360.2;ZC3H12D,synonymous_variant,p.=,ENST00000409806,;ZC3H12D,synonymous_variant,p.=,ENST00000542614,;ZC3H12D,synonymous_variant,p.=,ENST00000409948,;ZC3H12D,non_coding_transcript_exon_variant,,ENST00000462655,;	uc003qmn.1	c.69G>T	388/1930	1	1			c.69G>T						6	SNP	c.(67-69)GTG>GTT	64	64				0	Broad	zinc finger CCCH-type containing 12D			149795611		0.677	ENSG00000178199	17306	g.chr6:149795611C>A		cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding							36.997666	KEEP	9	4	0.307692308	9	7	9	4	0.307692308	37.031131	9	7	0.461538	1	0	0	0	0	0	0	1	0	--	--		0	A			PPIL4_uc010kic.2_Intron|ZC3H12D_uc003qmm.2_Silent_p.V23V|ZC3H12D_uc010kid.2_Silent_p.V23V	4	GBM-02-0055-TP	p.V23V	C	GCTTGCCCAACACCCGGAGCA	NM_207360	NP_997243	149795611	A2A288	ZC12D_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)	1	139	-	A	A		Ovarian(120;0.0907)	Silent	23						
ZC3H13	23091	broad.mit.edu	GRCh37	13	46544544	46544544	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs144621814		TCGA-06-0184-01	TCGA-06-0184-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282007.3:c.2525G>A	p.Arg842His	p.R842H	ENST00000282007	NM_015070.3	842	cGt/cAt	0	T:0		1			T	R/H	uc010tfw.1	protein_coding					2525/5007									ovary(1)|lung(1)	2	c.(2524-2526)CGT>CAT			hmmpanther:PTHR13585,hmmpanther:PTHR13585:SF2,Low_complexity_(Seg):seg	zinc finger CCCH-type containing 13			T:0.0002	ENSP00000242848		13/19	8.24E-05	9.62E-05				0.000135			rs144621814,COSM2150481,COSM3399381	13/19	.		ENST00000242848	Transcript					nucleic acid binding|zinc ion binding	ENSG00000123200	g.chr13:46544544C>T	20368			MODERATE		2.015	medium	getma.org/?cm=msa&ty=f&p=ZC3HD_HUMAN&rb=664&re=863&var=R842H	NA	getma.org/?cm=var&var=hg19,13,46544544,C,T&fts=all	R842H	--	--	1																																		ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Missense_Mutation_p.R842H|ZC3H13_uc001vat.1_Missense_Mutation_p.R842H	0,1,1			unknown(0)	p.R842H	NM_015070	NP_055885			0,1,1	ZC3HD_HUMAN	ZC3H13	HGNC	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	F8W781_HUMAN		12	2531	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	UPI000046F8EB	842			Arg/Glu-rich.		SNV	ZC3H13,missense_variant,p.Arg842His,ENST00000242848,;ZC3H13,missense_variant,p.Arg842His,ENST00000282007,NM_015070.3;ZC3H13,upstream_gene_variant,,ENST00000378921,;	uc010tfw.1	c.2525G>A	2874/8018	2	2			c.2525G>A						13	SNP	c.(2524-2526)CGT>CAT	33	33			ovary(1)|lung(1)	2	Broad	zinc finger CCCH-type containing 13			46544544		0.438	ENSG00000123200	17307	g.chr13:46544544C>T			nucleic acid binding|zinc ion binding	Esophageal Squamous(187;747 2077 11056 31291 44172)			Esophageal Squamous(187;747 2077 11056 31291 44172)			213.105349	KEEP	44	49	-1	111	110	44	49	-1	221.818895	111	110	0.302789	1	0	0	0	0	1	0	0	0	--	--		0	T			ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Missense_Mutation_p.R842H|ZC3H13_uc001vat.1_Missense_Mutation_p.R842H	39	GBM-06-0184-TP	p.R842H	C	AGAATGTTCACGCCGGCGCTT	NM_015070	NP_055885	46544544	Q5T200	ZC3HD_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	12	2531	-	T	T		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	Missense_Mutation	842			Arg/Glu-rich.			
ZC3H13	23091		GRCh37	13	46549530	46549530	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01	TCGA-76-6657-01																				ENST00000282007.3:c.2356C>T	p.Arg786Cys	p.R786C	ENST00000282007	NM_015070.3	786	Cgc/Tgc	0																																																																																																																																																																																																																																												
ZC3H15	0	broad.mit.edu	GRCh37	2	187368763	187368763	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01	TCGA-32-2495-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337859.6:c.539G>A	p.Cys180Tyr	p.C180Y	ENST00000337859	NM_018471.2	180	tGc/tAc	0			1			A	C/Y	uc002upo.2	protein_coding	YES	CCDS42791.1			539/1281									skin(1)	1	c.(538-540)TGC>TAC			PROSITE_profiles:PS50103,hmmpanther:PTHR12681,hmmpanther:PTHR12681:SF3,SMART_domains:SM00356	erythropoietin 4 immediate early response				ENSP00000338788		10-Jun									COSM3407395	10-Jun	.		ENST00000337859	Transcript				cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding	ENSG00000065548	g.chr2:187368763G>A	29528			MODERATE		2.96	medium	getma.org/?cm=msa&ty=f&p=ZC3HF_HUMAN&rb=126&re=325&var=C180Y	NA	getma.org/?cm=var&var=hg19,2,187368763,G,A&fts=all	C180Y	--	--	1																																			1	1		probably_damaging(0.999)	p.C180Y	NM_018471	NP_060941		deleterious(0)	1	ZC3HF_HUMAN	ZC3H15	HGNC	Q8WU90	ZC3HF_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)				6	764	+			UPI00000437CE	180			C3H1-type 2.		SNV	ZC3H15,missense_variant,p.Cys180Tyr,ENST00000337859,NM_018471.2;ZC3H15,5_prime_UTR_variant,,ENST00000544130,;ZC3H15,upstream_gene_variant,,ENST00000445547,;AC018867.2,upstream_gene_variant,,ENST00000595956,;AC018867.1,downstream_gene_variant,,ENST00000396985,;ZC3H15,non_coding_transcript_exon_variant,,ENST00000468120,;ZC3H15,non_coding_transcript_exon_variant,,ENST00000481101,;ZC3H15,non_coding_transcript_exon_variant,,ENST00000496289,;ZC3H15,synonymous_variant,p.=,ENST00000421536,;ZC3H15,upstream_gene_variant,,ENST00000498757,;ZC3H15,downstream_gene_variant,,ENST00000437396,;	uc002upo.2	c.539G>A	766/2138	2	2			c.539G>A						2	SNP	c.(538-540)TGC>TAC	29	29			skin(1)	1	Broad	erythropoietin 4 immediate early response			187368763		0.438	ENSG00000065548	17309	g.chr2:187368763G>A		cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding							341.041015	KEEP	77	79	-1	109	98	77	79	-1	342.397679	109	98	0.426573	1	0	0	0	0	1	0	0	0	--	--		0	A				237	GBM-32-2495-TP	p.C180Y	G	CTATAGGTGTGCAAGCATTTC	NM_018471	NP_060941	187368763	Q8WU90	ZC3HF_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)		6	764	+	A	A			Missense_Mutation	180			C3H1-type 2.			
ZC3H18	124245		GRCh37	16	88688687	88688687	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000301011.5:c.1558C>T	p.Arg520Cys	p.R520C	ENST00000301011	NM_144604.3	520	Cgc/Tgc	0																																																																																																																																																																																																																																												
ZC3HAV1	0	broad.mit.edu	GRCh37	7	138794019	138794019	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01	TCGA-41-2573-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000242351.5:c.59G>A	p.Arg20His	p.R20H	ENST00000242351	NM_020119.3	20	cGc/cAc	0			1			T	R/H	uc003vun.2	protein_coding	YES	CCDS5851.1			59/2709									ovary(1)	1	c.(58-60)CGC>CAC			hmmpanther:PTHR14453,hmmpanther:PTHR14453:SF49	zinc finger antiviral protein isoform 1				ENSP00000242351		13-Jan	9.92E-05			0.000136		5.53E-05			rs759165366,COSM3411644	13-Jan	.		ENST00000242351	Transcript			response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	ENSG00000105939	g.chr7:138794019C>T	23721			MODERATE		2.32	medium	getma.org/?cm=msa&ty=f&p=ZCCHV_HUMAN&rb=1&re=200&var=R20H	getma.org/pdb.php?prot=ZCCHV_HUMAN&from=1&to=200&var=R20H	getma.org/?cm=var&var=hg19,7,138794019,C,T&fts=all	R20H	--	--	1																																		ZC3HAV1_uc003vup.2_Missense_Mutation_p.R20H	0,1	1		probably_damaging(0.964)	p.R20H	NM_020119	NP_064504		deleterious(0)	0,1	ZCCHV_HUMAN	ZC3HAV1	HGNC	Q7Z2W4	ZCCHV_HUMAN					1	447	-			UPI00001612AE	20					SNV	ZC3HAV1,missense_variant,p.Arg20His,ENST00000242351,NM_020119.3;ZC3HAV1,missense_variant,p.Arg20His,ENST00000464606,;ZC3HAV1,missense_variant,p.Arg20His,ENST00000471652,NM_024625.3;	uc003vun.2	c.59G>A	376/7100	1	1			c.59G>A						7	SNP	c.(58-60)CGC>CAC	15	15			ovary(1)	1	Broad	zinc finger antiviral protein isoform 1			138794019		0.701	ENSG00000105939	17317	g.chr7:138794019C>T	response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding							-1.794789	KEEP	2	1	-1	30	16	2	1	-1	6.41012	30	16	0.069767	1	0	0	0	0	1	0	0	0	--	--		0	T			ZC3HAV1_uc003vup.2_Missense_Mutation_p.R20H	252	GBM-41-2573-TP	p.R20H	C	CAGGGCCATGCGGCCCCCGTG	NM_020119	NP_064504	138794019	Q7Z2W4	ZCCHV_HUMAN	0			1	447	-	T	T			Missense_Mutation	20						
ZC3HAV1L	92092	broad.mit.edu	GRCh37	7	138719356	138719356	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-5856-01	TCGA-06-5856-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000275766.1:c.434T>C	p.Leu145Pro	p.L145P	ENST00000275766	NM_080660.3	145	cTt/cCt	0			1			G	L/P	uc003vum.1	protein_coding	YES	CCDS5850.1			434/903										0	c.(433-435)CTT>CCT			hmmpanther:PTHR14453:SF57,hmmpanther:PTHR14453	zinc finger CCCH-type, antiviral 1-like				ENSP00000275766		5-Feb									COSM3411642	5-Feb	.		ENST00000275766	Transcript						ENSG00000146858	g.chr7:138719356A>G	22423			MODERATE		2.345	medium	getma.org/?cm=msa&ty=f&p=ZCCHL_HUMAN&rb=1&re=200&var=L145P	getma.org/pdb.php?prot=ZCCHL_HUMAN&from=1&to=200&var=L145P	getma.org/?cm=var&var=hg19,7,138719356,A,G&fts=all	L145P	--	--	1																																			1	1		probably_damaging(0.969)	p.L145P	NM_080660	NP_542391		deleterious(0)	1	ZCCHL_HUMAN	ZC3HAV1L	HGNC	Q96H79	ZCCHL_HUMAN					2	446	-			UPI000020FBA9	145					SNV	ZC3HAV1L,missense_variant,p.Leu145Pro,ENST00000275766,NM_080660.3;	uc003vum.1	c.434T>C	446/1753	4	4			c.434T>C						7	SNP	c.(433-435)CTT>CCT	29	29				0	Broad	zinc finger CCCH-type, antiviral 1-like			138719356		0.483	ENSG00000146858	17318	g.chr7:138719356A>G										121.407279	KEEP	16	20	-1	32	31	16	20	-1	122.468286	32	31	0.384615	1	0	0	0	0	1	0	0	0	--	--		0	G				101	GBM-06-5856-TP	p.L145P	A	GAGACCAAAAAGTCCATGGCT	NM_080660	NP_542391	138719356	Q96H79	ZCCHL_HUMAN	0			2	446	-	G	G			Missense_Mutation	145						
ZC4H2	0	broad.mit.edu	GRCh37	X	64140054	64140054	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01	TCGA-19-1790-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374839.3:c.305A>G	p.Lys102Arg	p.K102R	ENST00000374839	NM_018684.3	102	aAg/aGg	0			1			C	K/R	uc004dvu.2	protein_coding	YES	CCDS14380.1			305/675									ovary(1)	1	c.(304-306)AAG>AGG			Pfam_domain:PF10146,hmmpanther:PTHR31058	zinc finger, C4H2 domain containing				ENSP00000363972		5-Mar									COSM3406519,COSM3406520	5-Mar	.		ENST00000374839	Transcript	1				metal ion binding|protein binding	ENSG00000126970	g.chrX:64140054T>C	24931			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=ZC4H2_HUMAN&rb=12&re=222&var=K102R	NA	getma.org/?cm=var&var=hg19,X,64140054,T,C&fts=all	K102R	--	--	1																																		ZC4H2_uc004dvv.2_Missense_Mutation_p.K79R|ZC4H2_uc011mov.1_Missense_Mutation_p.K79R|ZC4H2_uc011mow.1_Missense_Mutation_p.K102R|ZC4H2_uc004dvw.1_Missense_Mutation_p.K102R	1,1	1		benign(0.002)	p.K102R	NM_018684	NP_061154		tolerated(0.75)	1,1	ZC4H2_HUMAN	ZC4H2	HGNC	Q9NQZ6	ZC4H2_HUMAN					3	393	-			UPI0000025CAA	102			Potential.		SNV	ZC4H2,missense_variant,p.Lys97Arg,ENST00000545618,;ZC4H2,missense_variant,p.Lys79Arg,ENST00000337990,NM_001178032.2,NM_001243804.1;ZC4H2,missense_variant,p.Lys102Arg,ENST00000374839,NM_018684.3;ZC4H2,missense_variant,p.Lys102Arg,ENST00000447788,NM_001178033.2;ZC4H2,non_coding_transcript_exon_variant,,ENST00000488608,;ZC4H2,non_coding_transcript_exon_variant,,ENST00000476032,;ZC4H2,non_coding_transcript_exon_variant,,ENST00000492653,;ZC4H2,non_coding_transcript_exon_variant,,ENST00000488831,;ZC4H2,upstream_gene_variant,,ENST00000488406,;	uc004dvu.2	c.305A>G	412/2184	4	4			c.305A>G						23	SNP	c.(304-306)AAG>AGG	33	33			ovary(1)	1	Broad	zinc finger, C4H2 domain containing			64140054		0.473	ENSG00000126970	17320	g.chrX:64140054T>C			metal ion binding|protein binding							-19.276074	KEEP	2	2	-1	65	63	2	2	-1	7.568501	65	63	0.027523	1	0	0	0	0	1	0	0	0	--	--		0	C			ZC4H2_uc004dvv.2_Missense_Mutation_p.K79R|ZC4H2_uc011mov.1_Missense_Mutation_p.K79R|ZC4H2_uc011mow.1_Missense_Mutation_p.K102R|ZC4H2_uc004dvw.1_Missense_Mutation_p.K102R	160	GBM-19-1790-TP	p.K102R	T	TTTCAGTGGCTTATACTCATC	NM_018684	NP_061154	64140054	Q9NQZ6	ZC4H2_HUMAN	0			3	393	-	C	C			Missense_Mutation	102			Potential.			
ZCCHC11	0	broad.mit.edu	GRCh37	1	52981638	52981638	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-16-1045-01	TCGA-16-1045-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371544.3:c.807G>C	p.Leu269Phe	p.L269F	ENST00000371544	NM_015269.2	269	ttG/ttC	0			1			G	L/F	uc001ctx.2	protein_coding		CCDS30716.1			807/4935									ovary(2)|skin(1)	3	c.(805-807)TTG>TTC			hmmpanther:PTHR12271,hmmpanther:PTHR12271:SF49	zinc finger, CCHC domain containing 11 isoform				ENSP00000360599		30-Mar									COSM3400874	30-Mar	.		ENST00000371544	Transcript			miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	ENSG00000134744	g.chr1:52981638C>G	28981			MODERATE		2.295	medium	getma.org/?cm=msa&ty=f&p=TUT4_HUMAN&rb=201&re=400&var=L269F	NA	getma.org/?cm=var&var=hg19,1,52981638,C,G&fts=all	L269F	--	--	1																																		ZCCHC11_uc001cty.2_Missense_Mutation_p.L269F|ZCCHC11_uc001ctz.2_Missense_Mutation_p.L269F|ZCCHC11_uc009vze.1_Missense_Mutation_p.L269F|ZCCHC11_uc009vzf.1_Missense_Mutation_p.L28F|ZCCHC11_uc001cub.2_Missense_Mutation_p.L269F|ZCCHC11_uc001cuc.2_RNA|ZCCHC11_uc001cud.2_Missense_Mutation_p.L269F	1			possibly_damaging(0.846)	p.L269F	NM_015269	NP_056084		deleterious(0)	1	TUT4_HUMAN	ZCCHC11	HGNC	Q5TAX3	TUT4_HUMAN			H0YEY0_HUMAN,E9PQS7_HUMAN,E9PJN7_HUMAN		3	1041	-			UPI00002371F6	269					SNV	ZCCHC11,missense_variant,p.Leu269Phe,ENST00000371544,NM_015269.2,NM_001009881.2;ZCCHC11,missense_variant,p.Leu269Phe,ENST00000257177,;ZCCHC11,missense_variant,p.Leu269Phe,ENST00000528642,;ZCCHC11,missense_variant,p.Leu28Phe,ENST00000484723,;ZCCHC11,missense_variant,p.Leu269Phe,ENST00000355809,;ZCCHC11,non_coding_transcript_exon_variant,,ENST00000371541,;ZCCHC11,missense_variant,p.Leu269Phe,ENST00000473856,;	uc001ctx.2	c.807G>C	1070/5858	4	4			c.807G>C						1	SNP	c.(805-807)TTG>TTC	17	17			ovary(2)|skin(1)	3	Broad	zinc finger, CCHC domain containing 11 isoform			52981638		0.343	ENSG00000134744	17322	g.chr1:52981638C>G	miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding							-33.336819	KEEP	3	3	-1	134	80	3	3	-1	14.589196	134	80	0.030303	1	0	0	0	0	1	0	0	0	--	--		0	G			ZCCHC11_uc001cty.2_Missense_Mutation_p.L269F|ZCCHC11_uc001ctz.2_Missense_Mutation_p.L269F|ZCCHC11_uc009vze.1_Missense_Mutation_p.L269F|ZCCHC11_uc009vzf.1_Missense_Mutation_p.L28F|ZCCHC11_uc001cub.2_Missense_Mutation_p.L269F|ZCCHC11_uc001cuc.2_RNA|ZCCHC11_uc001cud.2_Missense_Mutation_p.L269F	157	GBM-16-1045-TP	p.L269F	C	GCTCAGGTGTCAATGCAGATT	NM_015269	NP_056084	52981638	Q5TAX3	TUT4_HUMAN	0			3	1041	-	G	G			Missense_Mutation	269						
ZCCHC13	0	broad.mit.edu	GRCh37	X	73524398	73524398	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-28-5219-01	TCGA-28-5219-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339534.2:c.297T>A	p.His99Gln	p.H99Q	ENST00000339534	NM_203303.2	99	caT/caA	0			1			A	H/Q	uc004ebs.3	protein_coding	YES	CCDS14425.1			297/501										0	c.(295-297)CAT>CAA			PROSITE_profiles:PS50158,hmmpanther:PTHR23002,hmmpanther:PTHR23002:SF53,Pfam_domain:PF00098,Gene3D:4.10.60.10,SMART_domains:SM00343,Superfamily_domains:SSF57756	zinc finger, CCHC domain containing 13				ENSP00000345633		1-Jan									COSM3406590	1-Jan	.		ENST00000339534	Transcript					nucleic acid binding|zinc ion binding	ENSG00000187969	g.chrX:73524398T>A	31749			MODERATE		4.24	high	getma.org/?cm=msa&ty=f&p=ZCH13_HUMAN&rb=69&re=126&var=H99Q	getma.org/pdb.php?prot=ZCH13_HUMAN&from=89&to=106&var=H99Q	getma.org/?cm=var&var=hg19,X,73524398,T,A&fts=all	H99Q	--	--	1																																			1	1		probably_damaging(1)	p.H99Q	NM_203303	NP_976048		deleterious(0)	1	ZCH13_HUMAN	ZCCHC13	HGNC	Q8WW36	ZCH13_HUMAN					1	374	+			UPI0000070721	99			CCHC-type 4.		SNV	ZCCHC13,missense_variant,p.His99Gln,ENST00000339534,NM_203303.2;	uc004ebs.3	c.297T>A	374/844	1	1			c.297T>A						23	SNP	c.(295-297)CAT>CAA	62	62				0	Broad	zinc finger, CCHC domain containing 13			73524398		0.512	ENSG00000187969	17324	g.chrX:73524398T>A			nucleic acid binding|zinc ion binding							28.542572	KEEP	9	9	-1	39	56	9	9	-1	40.449879	39	56	0.153846	1	0	0	0	0	1	0	0	0	--	--		0	A				225	GBM-28-5219-TP	p.H99Q	T	GACTAGGACATCTGGCTCGTG	NM_203303	NP_976048	73524398	Q8WW36	ZCH13_HUMAN	0			1	374	+	A	A			Missense_Mutation	99			CCHC-type 4.			
ZCCHC14	0	broad.mit.edu	GRCh37	16	87448975	87448975	+	splice_acceptor_variant	Splice_Site	SNP	T	T	G			TCGA-12-0821-01	TCGA-12-0821-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268616.4:c.973-2A>C		p.X325_splice	ENST00000268616	NM_015144.2			0			1			G		uc002fjz.1	protein_coding	YES	CCDS10961.1			973/2850									upper_aerodigestive_tract(1)|breast(1)	2	c.e9-1				zinc finger, CCHC domain containing 14				ENSP00000268616											COSM3402535,COSM3402536		.		ENST00000268616	Transcript			cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	ENSG00000140948	g.chr16:87448975T>G	24134			HIGH	12-Aug							--	--	1																																		ZCCHC14_uc002fka.1_Splice_Site|ZCCHC14_uc002fkb.2_Splice_Site_p.F101_splice	1,1	1			p.F325_splice	NM_015144	NP_055959			1,1	ZCH14_HUMAN	ZCCHC14	HGNC	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)			9	1000	-			UPI00000705C4						SNV	ZCCHC14,splice_acceptor_variant,,ENST00000268616,NM_015144.2;ZCCHC14,splice_acceptor_variant,,ENST00000561928,;ZCCHC14,splice_acceptor_variant,,ENST00000568020,;ZCCHC14,splice_acceptor_variant,,ENST00000565193,;	uc002fjz.1	c.973_splice	-/7102	5	3			c.973_splice						16	SNP	c.e9-1	59	59			upper_aerodigestive_tract(1)|breast(1)	2	Broad	zinc finger, CCHC domain containing 14			87448975		0.398	ENSG00000140948	17325	g.chr16:87448975T>G	cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding							159.297078	KEEP	36	21	-1	85	39	36	21	-1	163.210151	85	39	0.335404	1	0	0	0	0	0	0	0	1	--	--		0	G			ZCCHC14_uc002fka.1_Splice_Site|ZCCHC14_uc002fkb.2_Splice_Site_p.F101_splice	123	GBM-12-0821-TP	p.F325_splice	T	GCTCAAAAACTTTCACAGAAA	NM_015144	NP_055959	87448975	Q8WYQ9	ZCH14_HUMAN	0		BRCA - Breast invasive adenocarcinoma(80;0.0285)	9	1000	-	G	G			Splice_Site							
ZCCHC14	0	broad.mit.edu	GRCh37	16	87448889	87448889	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-26-5132-01	TCGA-26-5132-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268616.4:c.1057C>A	p.Leu353Met	p.L353M	ENST00000268616	NM_015144.2	353	Ctg/Atg	0			1			T	L/M	uc002fjz.1	protein_coding	YES	CCDS10961.1			1057/2850									upper_aerodigestive_tract(1)|breast(1)	2	c.(1057-1059)CTG>ATG			Low_complexity_(Seg):seg,hmmpanther:PTHR16195:SF12,hmmpanther:PTHR16195	zinc finger, CCHC domain containing 14				ENSP00000268616		13-Sep									COSM2156922	13-Sep	.		ENST00000268616	Transcript			cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	ENSG00000140948	g.chr16:87448889G>T	24134			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=ZCH14_HUMAN&rb=294&re=353&var=L353M	NA	getma.org/?cm=var&var=hg19,16,87448889,G,T&fts=all	L353M	--	--	1																																		ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.L129M	1	1		probably_damaging(1)	p.L353M	NM_015144	NP_055959		deleterious(0.05)	1	ZCH14_HUMAN	ZCCHC14	HGNC	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)			9	1084	-			UPI00000705C4	353					SNV	ZCCHC14,missense_variant,p.Leu353Met,ENST00000268616,NM_015144.2;ZCCHC14,missense_variant,p.Leu237Met,ENST00000561928,;ZCCHC14,missense_variant,p.Leu353Met,ENST00000568020,;ZCCHC14,downstream_gene_variant,,ENST00000565193,;	uc002fjz.1	c.1057C>A	1275/7102	2	2			c.1057C>A						16	SNP	c.(1057-1059)CTG>ATG	18	18			upper_aerodigestive_tract(1)|breast(1)	2	Broad	zinc finger, CCHC domain containing 14			87448889		0.423	ENSG00000140948	17325	g.chr16:87448889G>T	cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding							256.512545	KEEP	51	47	0.520408163	54	76	51	47	0.520408163	257.312645	54	76	0.432161	1	0	0	0	0	1	0	0	0	--	--		0	T			ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.L129M	181	GBM-26-5132-TP	p.L353M	G	CACTTTTCCAGCTCCAGCTGG	NM_015144	NP_055959	87448889	Q8WYQ9	ZCH14_HUMAN	0		BRCA - Breast invasive adenocarcinoma(80;0.0285)	9	1084	-	T	T			Missense_Mutation	353						
ZCCHC16	0	broad.mit.edu	GRCh37	X	111698312	111698312	+	missense_variant	Missense_Mutation	SNP	G	G	C	rs149089921		TCGA-06-0174-01	TCGA-06-0174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000340433.2:c.356G>C	p.Ser119Thr	p.S119T	ENST00000340433	NM_001004308.2	119	aGt/aCt	0			1			C	S/T	uc004epo.1	protein_coding	YES	CCDS35369.1			356/933									ovary(1)	1	c.(355-357)AGT>ACT			hmmpanther:PTHR15503,hmmpanther:PTHR15503:SF8	zinc finger, CCHC domain containing 16				ENSP00000340590		1-Jan									COSM610375	1-Jan	.		ENST00000340433	Transcript					nucleic acid binding|zinc ion binding	ENSG00000187823	g.chrX:111698312G>C	25214			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=ZCH16_HUMAN&rb=1&re=200&var=S119T	NA	getma.org/?cm=var&var=hg19,X,111698312,G,C&fts=all	S119T	--	--	1																																			1	1		benign(0.007)	p.S119T	NM_001004308	NP_001004308		tolerated(0.09)	1	ZCH16_HUMAN	ZCCHC16	HGNC	Q6ZR62	ZCH16_HUMAN					3	797	+			UPI00001975B5	119					SNV	ZCCHC16,missense_variant,p.Ser119Thr,ENST00000340433,NM_001004308.2;	uc004epo.1	c.356G>C	586/2747	3	3			c.356G>C						23	SNP	c.(355-357)AGT>ACT	10	10			ovary(1)	1	Broad	zinc finger, CCHC domain containing 16			111698312		0.383	ENSG00000187823	17326	g.chrX:111698312G>C			nucleic acid binding|zinc ion binding							412.117701	KEEP	52	60	-1	5	1	52	60	-1	427.44446	5	1	0.943925	1	0	0	0	0	1	0	0	0	--	--		0	C				37	GBM-06-0174-TP	p.S119T	G	CCTGACAAGAGTACCTTACTG	NM_001004308	NP_001004308	111698312	Q6ZR62	ZCH16_HUMAN	0			3	797	+	C	C			Missense_Mutation	119						
ZCCHC17	0	broad.mit.edu	GRCh37	1	31810124	31810125	+	splice_region_variant,intron_variant	Splice_Region	INS	-	-	A			TCGA-14-0790-01	TCGA-14-0790-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344147.5:c.225+5dupA		p.X75_splice	ENST00000344147	NM_016505.2			0			1			A		uc001bsp.1	protein_coding		CCDS341.1			-/726									ovary(1)	1	c.e4+2				zinc finger, CCHC domain containing 17				ENSP00000343557													.		ENST00000344147	Transcript				nucleolus	RNA binding|zinc ion binding	ENSG00000121766	g.chr1:31810124_31810125insA	30246	3		LOW	7-Apr							--	--	1																																		ZCCHC17_uc001bsq.1_Splice_Site_p.E67_splice|ZCCHC17_uc010ogf.1_Splice_Site_p.E51_splice|ZCCHC17_uc009vtu.1_Splice_Site_p.E51_splice|ZCCHC17_uc001bsr.1_Splice_Site_p.E75_splice|ZCCHC17_uc009vtv.1_Splice_Site_p.E51_splice					p.E75_splice	NM_016505	NP_057589				NO40_HUMAN	ZCCHC17	HGNC	Q9NP64	NO40_HUMAN		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)			4	361	+		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)	UPI000006D544						insertion	ZCCHC17,splice_region_variant,,ENST00000373714,NM_001282570.1,NM_001282568.1;ZCCHC17,splice_region_variant,,ENST00000344147,NM_016505.2,NM_001282570.1;ZCCHC17,splice_region_variant,,ENST00000422613,NM_001282567.1;ZCCHC17,splice_region_variant,,ENST00000546109,NM_001282569.1;RP11-266K22.2,intron_variant,,ENST00000430143,;ZCCHC17,splice_region_variant,,ENST00000479629,;ZCCHC17,splice_region_variant,,ENST00000490049,;	uc001bsp.1	c.225_splice	-/1605	5	5			c.225_splice						1	INS	c.e4+2	22	22			ovary(1)	1	Broad	zinc finger, CCHC domain containing 17			31810125		0.426	ENSG00000121766	17327	g.chr1:31810124_31810125insA		nucleolus	RNA binding|zinc ion binding																				0.03	1	0	0	1	1	0	0	0	1	--	--		0	A			ZCCHC17_uc001bsq.1_Splice_Site_p.E67_splice|ZCCHC17_uc010ogf.1_Splice_Site_p.E51_splice|ZCCHC17_uc009vtu.1_Splice_Site_p.E51_splice|ZCCHC17_uc001bsr.1_Splice_Site_p.E75_splice|ZCCHC17_uc009vtv.1_Splice_Site_p.E51_splice	137	GBM-14-0790-TP	p.E75_splice	-	GGCCGAGAGGTAAAGTTCTGTG	NM_016505	NP_057589	31810124	Q9NP64	NO40_HUMAN	0		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)	4	361	+	A	A		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)	Splice_Site							
ZCCHC2	0	broad.mit.edu	GRCh37	18	60243794	60243794	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-12-0618-01	TCGA-12-0618-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269499.5:c.3519G>A	p.Thr1173=	p.T1173=	ENST00000269499	NM_017742.4	1173	acG/acA	0	A:0.0003		1			A	T	uc002lip.3	protein_coding	YES	CCDS45880.1			3519/3537									lung(1)|prostate(1)	2	c.(3517-3519)ACG>ACA			hmmpanther:PTHR16195,hmmpanther:PTHR16195:SF13	zinc finger, CCHC domain containing 2			A:0	ENSP00000269499		14/14									rs376639243,COSM2153613	14/14	.		ENST00000269499	Transcript			cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	ENSG00000141664	g.chr18:60243794G>A	22916			LOW								--	--	1																																		ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Silent_p.T643T	0,1	1			p.T1173T	NM_017742	NP_060212			0,1	ZCHC2_HUMAN	ZCCHC2	HGNC	Q9C0B9	ZCHC2_HUMAN			K7ERQ9_HUMAN,B2RPG6_HUMAN		14	3519	+			UPI00016D385A	1173					SNV	ZCCHC2,synonymous_variant,p.=,ENST00000269499,NM_017742.4;ZCCHC2,synonymous_variant,p.=,ENST00000586834,;ZCCHC2,downstream_gene_variant,,ENST00000587612,;ZCCHC2,synonymous_variant,p.=,ENST00000585873,;ZCCHC2,synonymous_variant,p.=,ENST00000591145,;ZCCHC2,non_coding_transcript_exon_variant,,ENST00000585949,;	uc002lip.3	c.3519G>A	3937/5959	1	1			c.3519G>A						18	SNP	c.(3517-3519)ACG>ACA	51	51			lung(1)|prostate(1)	2	Broad	zinc finger, CCHC domain containing 2			60243794		0.468	ENSG00000141664	17328	g.chr18:60243794G>A	cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding							75.464679	KEEP	16	12	-1	21	20	16	12	-1	75.764271	21	20	0.423729	1	0	0	0	0	0	0	1	0	--	--		0	A			ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Silent_p.T643T	119	GBM-12-0618-TP	p.T1173T	G	CTAATGATACGTTGGATTCTG	NM_017742	NP_060212	60243794	Q9C0B9	ZCHC2_HUMAN	0			14	3519	+	A	A			Silent	1173						
ZCCHC4	29063	broad.mit.edu	GRCh37	4	25366728	25366728	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-01	TCGA-06-0190-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302874.4:c.1346G>A	p.Gly449Asp	p.G449D	ENST00000302874	NM_024936.2	449	gGt/gAt	0			1			A	G/D	uc003grl.3	protein_coding	YES	CCDS43218.1			1346/1542									ovary(2)	2	c.(1345-1347)GGT>GAT			hmmpanther:PTHR13493,hmmpanther:PTHR13493:SF2	zinc finger, CCHC domain containing 4				ENSP00000303468		13-Dec									COSM3409237	13-Dec	.		ENST00000302874	Transcript					methyltransferase activity|nucleic acid binding|zinc ion binding	ENSG00000168228	g.chr4:25366728G>A	22917			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=ZCHC4_HUMAN&rb=348&re=513&var=G449D	NA	getma.org/?cm=var&var=hg19,4,25366728,G,A&fts=all	G449D	--	--	1																																		ZCCHC4_uc003grn.3_Intron	1	1		probably_damaging(0.959)	p.G449D	NM_024936	NP_079212		tolerated(0.07)	1	ZCHC4_HUMAN	ZCCHC4	HGNC	Q9H5U6	ZCHC4_HUMAN					12	1382	+		Breast(46;0.0503)	UPI0000251F28	449			CCHC-type.		SNV	ZCCHC4,missense_variant,p.Gly449Asp,ENST00000302874,NM_024936.2;ZCCHC4,intron_variant,,ENST00000505412,;ZCCHC4,3_prime_UTR_variant,,ENST00000507760,;ZCCHC4,non_coding_transcript_exon_variant,,ENST00000508058,;	uc003grl.3	c.1346G>A	1370/2785	1	1			c.1346G>A						4	SNP	c.(1345-1347)GGT>GAT	56	56			ovary(2)	2	Broad	zinc finger, CCHC domain containing 4			25366728		0.398	ENSG00000168228	17331	g.chr4:25366728G>A			methyltransferase activity|nucleic acid binding|zinc ion binding							115.925265	KEEP	18	28	-1	60	37	18	28	-1	119.003891	60	37	0.335937	1	0	0	0	0	1	0	0	0	--	--		0	A			ZCCHC4_uc003grn.3_Intron	43	GBM-06-0190-TP	p.G449D	G	TTTATTTGTGGTGAACTGGAT	NM_024936	NP_079212	25366728	Q9H5U6	ZCHC4_HUMAN	0			12	1382	+	A	A		Breast(46;0.0503)	Missense_Mutation	449			CCHC-type.			
ZCCHC5	0	broad.mit.edu	GRCh37	X	77913863	77913863	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs148985625		TCGA-06-0192-01	TCGA-06-0192-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321110.1:c.55C>T	p.Arg19Trp	p.R19W	ENST00000321110	NM_152694.2	19	Cgg/Tgg	0			1			A	R/W	uc004edc.1	protein_coding	YES	CCDS14440.1			55/1428									ovary(1)	1	c.(55-57)CGG>TGG			hmmpanther:PTHR15503,hmmpanther:PTHR15503:SF7	zinc finger, CCHC domain containing 5				ENSP00000316794		2-Feb									COSM2150663	2-Feb	.		ENST00000321110	Transcript					nucleic acid binding|zinc ion binding	ENSG00000179300	g.chrX:77913863G>A	22997			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=ZCHC5_HUMAN&rb=1&re=229&var=R19W	NA	getma.org/?cm=var&var=hg19,X,77913863,G,A&fts=all	R19W	--	--	1																																			1	1		benign(0.153)	p.R19W	NM_152694	NP_689907		deleterious_low_confidence(0)	1	ZCHC5_HUMAN	ZCCHC5	HGNC	Q8N8U3	ZCHC5_HUMAN					2	351	-			UPI00000710DD	19					SNV	ZCCHC5,missense_variant,p.Arg19Trp,ENST00000321110,NM_152694.2;	uc004edc.1	c.55C>T	351/2648	1	1			c.55C>T						23	SNP	c.(55-57)CGG>TGG	55	55			ovary(1)	1	Broad	zinc finger, CCHC domain containing 5			77913863		0.463	ENSG00000179300	17332	g.chrX:77913863G>A			nucleic acid binding|zinc ion binding							34.52326	KEEP	14	5	-1	6	12	14	5	-1	34.532753	6	12	0.478261	1	0	0	0	0	1	0	0	0	--	--		0	A				44	GBM-06-0192-TP	p.R19W	G	TGAGCCTGCCGAATTTCATTC	NM_152694	NP_689907	77913863	Q8N8U3	ZCHC5_HUMAN	0			2	351	-	A	A			Missense_Mutation	19						
ZCCHC5	0	broad.mit.edu	GRCh37	X	77912605	77912605	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01	TCGA-06-0939-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321110.1:c.1313G>A	p.Arg438His	p.R438H	ENST00000321110	NM_152694.2	438	cGt/cAt	0	T:0.0005		1			T	R/H	uc004edc.1	protein_coding	YES	CCDS14440.1			1313/1428									ovary(1)	1	c.(1312-1314)CGT>CAT			hmmpanther:PTHR15503,hmmpanther:PTHR15503:SF7	zinc finger, CCHC domain containing 5			T:0	ENSP00000316794		2-Feb	6.59E-05	0.000706							rs369311059,COSM2152420	2-Feb	common_variant		ENST00000321110	Transcript					nucleic acid binding|zinc ion binding	ENSG00000179300	g.chrX:77912605C>T	22997			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=ZCHC5_HUMAN&rb=400&re=472&var=R438H	NA	getma.org/?cm=var&var=hg19,X,77912605,C,T&fts=all	R438H	--	--	1																																			0,1	1		benign(0.001)	p.R438H	NM_152694	NP_689907		tolerated(0.34)	0,1	ZCHC5_HUMAN	ZCCHC5	HGNC	Q8N8U3	ZCHC5_HUMAN					2	1609	-			UPI00000710DD	438					SNV	ZCCHC5,missense_variant,p.Arg438His,ENST00000321110,NM_152694.2;	uc004edc.1	c.1313G>A	1609/2648	2	2			c.1313G>A						23	SNP	c.(1312-1314)CGT>CAT	17	17			ovary(1)	1	Broad	zinc finger, CCHC domain containing 5			77912605		0.547	ENSG00000179300	17332	g.chrX:77912605C>T			nucleic acid binding|zinc ion binding							149.399618	KEEP	32	29	-1	57	52	32	29	-1	152.099238	57	52	0.357616	1	0	0	0	0	1	0	0	0	--	--		0	T				78	GBM-06-0939-TP	p.R438H	C	TTTGTGCCAACGGACCCATTC	NM_152694	NP_689907	77912605	Q8N8U3	ZCHC5_HUMAN	0			2	1609	-	T	T			Missense_Mutation	438						
ZCCHC5	0	broad.mit.edu	GRCh37	X	77913028	77913028	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-27-1830-01	TCGA-27-1830-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321110.1:c.890T>C	p.Ile297Thr	p.I297T	ENST00000321110	NM_152694.2	297	aTc/aCc	0			1			G	I/T	uc004edc.1	protein_coding	YES	CCDS14440.1			890/1428									ovary(1)	1	c.(889-891)ATC>ACC			hmmpanther:PTHR15503,hmmpanther:PTHR15503:SF7	zinc finger, CCHC domain containing 5				ENSP00000316794		2-Feb									COSM3406612	2-Feb	.		ENST00000321110	Transcript					nucleic acid binding|zinc ion binding	ENSG00000179300	g.chrX:77913028A>G	22997			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=ZCHC5_HUMAN&rb=230&re=429&var=I297T	NA	getma.org/?cm=var&var=hg19,X,77913028,A,G&fts=all	I297T	--	--	1																																			1	1		benign(0.052)	p.I297T	NM_152694	NP_689907		tolerated(0.46)	1	ZCHC5_HUMAN	ZCCHC5	HGNC	Q8N8U3	ZCHC5_HUMAN					2	1186	-			UPI00000710DD	297					SNV	ZCCHC5,missense_variant,p.Ile297Thr,ENST00000321110,NM_152694.2;	uc004edc.1	c.890T>C	1186/2648	3	3			c.890T>C						23	SNP	c.(889-891)ATC>ACC	3	3			ovary(1)	1	Broad	zinc finger, CCHC domain containing 5			77913028		0.483	ENSG00000179300	17332	g.chrX:77913028A>G			nucleic acid binding|zinc ion binding							57.233091	KEEP	14	7	-1	4	1	14	7	-1	58.87409	4	1	0.8	1	0	0	0	0	1	0	0	0	--	--		0	G				189	GBM-27-1830-TP	p.I297T	A	GGGGCTTTGGATATCCAGTAA	NM_152694	NP_689907	77913028	Q8N8U3	ZCHC5_HUMAN	0			2	1186	-	G	G			Missense_Mutation	297						
ZCWPW1	55063	broad.mit.edu	GRCh37	7	100017491	100017491	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0214-01	TCGA-06-0214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398027.2:c.44C>G	p.Pro15Arg	p.P15R	ENST00000398027	NM_017984.4	15	cCa/cGa	0			1			C	P/R	uc003uut.2	protein_coding	YES	CCDS43623.1			44/1947										0	c.(43-45)CCA>CGA				zinc finger, CW type with PWWP domain 1				ENSP00000381109		18-Apr									COSM3411350	18-Apr	.		ENST00000398027	Transcript					zinc ion binding	ENSG00000078487	g.chr7:100017491G>C	23486			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=ZCPW1_HUMAN&rb=1&re=161&var=P15R	NA	getma.org/?cm=var&var=hg19,7,100017491,G,C&fts=all	P15R	--	--	1																																		ZCWPW1_uc011kjq.1_5'Flank|ZCWPW1_uc003uur.2_5'Flank|ZCWPW1_uc003uus.2_5'UTR|ZCWPW1_uc011kjr.1_Missense_Mutation_p.P14R|ZCWPW1_uc003uuu.1_Missense_Mutation_p.P14R|ZCWPW1_uc011kjs.1_5'Flank|ZCWPW1_uc011kjt.1_Missense_Mutation_p.P14R|ZCWPW1_uc011kju.1_Missense_Mutation_p.P14R	1	1		possibly_damaging(0.839)	p.P15R	NM_017984	NP_060454		deleterious_low_confidence(0)	1	ZCPW1_HUMAN	ZCWPW1	HGNC	Q9H0M4	ZCPW1_HUMAN					4	292	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		UPI000014146E	15					SNV	ZCWPW1,missense_variant,p.Pro15Arg,ENST00000398027,NM_017984.4;ZCWPW1,missense_variant,p.Pro15Arg,ENST00000360951,NM_001258008.1;ZCWPW1,5_prime_UTR_variant,,ENST00000324725,;ZCWPW1,5_prime_UTR_variant,,ENST00000490721,;ZCWPW1,intron_variant,,ENST00000472716,;ZCWPW1,non_coding_transcript_exon_variant,,ENST00000464510,;ZCWPW1,upstream_gene_variant,,ENST00000490089,;	uc003uut.2	c.44C>G	292/2356	3	3			c.44C>G						7	SNP	c.(43-45)CCA>CGA	9	9				0	Broad	zinc finger, CW type with PWWP domain 1			100017491		0.413	ENSG00000078487	17338	g.chr7:100017491G>C			zinc ion binding							-16.115481	KEEP	8	3	-1	108	86	8	3	-1	23.236986	108	86	0.053476	1	0	0	0	0	1	0	0	0	--	--		0	C			ZCWPW1_uc011kjq.1_5'Flank|ZCWPW1_uc003uur.2_5'Flank|ZCWPW1_uc003uus.2_5'UTR|ZCWPW1_uc011kjr.1_Missense_Mutation_p.P14R|ZCWPW1_uc003uuu.1_Missense_Mutation_p.P14R|ZCWPW1_uc011kjs.1_5'Flank|ZCWPW1_uc011kjt.1_Missense_Mutation_p.P14R|ZCWPW1_uc011kju.1_Missense_Mutation_p.P14R	50	GBM-06-0214-TP	p.P15R	G	GATTCTCTTTGGTCCCTTTCC	NM_017984	NP_060454	100017491	Q9H0M4	ZCPW1_HUMAN	0			4	292	-	C	C	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		Missense_Mutation	15						
ZCWPW1	0	broad.mit.edu	GRCh37	7	99998699	99998699	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01	TCGA-27-2527-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398027.2:c.1885G>A	p.Gly629Arg	p.G629R	ENST00000398027	NM_017984.4	629	Ggg/Agg	0			1			T	G/R	uc003uut.2	protein_coding	YES	CCDS43623.1			1885/1947										0	c.(1885-1887)GGG>AGG			hmmpanther:PTHR15999:SF2,hmmpanther:PTHR15999	zinc finger, CW type with PWWP domain 1				ENSP00000381109		18/18									COSM3412592	18/18	.		ENST00000398027	Transcript					zinc ion binding	ENSG00000078487	g.chr7:99998699C>T	23486			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=ZCPW1_HUMAN&rb=563&re=648&var=G629R	NA	getma.org/?cm=var&var=hg19,7,99998699,C,T&fts=all	G629R	--	--	1																																		ZCWPW1_uc011kjq.1_Missense_Mutation_p.G509R|ZCWPW1_uc003uur.2_3'UTR|ZCWPW1_uc003uus.2_Missense_Mutation_p.G458R|ZCWPW1_uc011kjr.1_3'UTR|ZCWPW1_uc011kjp.1_RNA	1	1		possibly_damaging(0.685)	p.G629R	NM_017984	NP_060454		tolerated_low_confidence(0.51)	1	ZCPW1_HUMAN	ZCWPW1	HGNC	Q9H0M4	ZCPW1_HUMAN					18	2133	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		UPI000014146E	629					SNV	ZCWPW1,missense_variant,p.Gly629Arg,ENST00000398027,NM_017984.4;ZCWPW1,missense_variant,p.Gly458Arg,ENST00000324725,;ZCWPW1,missense_variant,p.Gly458Arg,ENST00000490721,;ZCWPW1,3_prime_UTR_variant,,ENST00000360951,NM_001258008.1;PILRA,downstream_gene_variant,,ENST00000198536,NM_013439.2;PILRA,downstream_gene_variant,,ENST00000453419,NM_178272.1;PILRA,downstream_gene_variant,,ENST00000350573,;PILRA,downstream_gene_variant,,ENST00000394000,NM_178273.1;ZCWPW1,downstream_gene_variant,,ENST00000471336,;PILRA,downstream_gene_variant,,ENST00000432297,;ZCWPW1,non_coding_transcript_exon_variant,,ENST00000490089,;ZCWPW1,non_coding_transcript_exon_variant,,ENST00000479315,;	uc003uut.2	c.1885G>A	2133/2356	1	1			c.1885G>A						7	SNP	c.(1885-1887)GGG>AGG	7	7				0	Broad	zinc finger, CW type with PWWP domain 1			99998699		0.602	ENSG00000078487	17338	g.chr7:99998699C>T			zinc ion binding							-3.718604	KEEP	4	4	-1	49	47	4	4	-1	13.794122	49	47	0.066667	1	0	0	0	0	1	0	0	0	--	--		0	T			ZCWPW1_uc011kjq.1_Missense_Mutation_p.G509R|ZCWPW1_uc003uur.2_3'UTR|ZCWPW1_uc003uus.2_Missense_Mutation_p.G458R|ZCWPW1_uc011kjr.1_3'UTR|ZCWPW1_uc011kjp.1_RNA	204	GBM-27-2527-TP	p.G629R	C	TGCAGCTCCCCGCTCTGCCCC	NM_017984	NP_060454	99998699	Q9H0M4	ZCPW1_HUMAN	0			18	2133	-	T	T	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		Missense_Mutation	629						
ZCWPW1	55063		GRCh37	7	99998739	99998739	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000398027.2:c.1845G>A	p.Glu615=	p.E615=	ENST00000398027	NM_017984.4	615	gaG/gaA	0																																																																																																																																																																																																																																												
ZDBF2	57683	broad.mit.edu	GRCh37	2	207175047	207175047	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374423.3:c.5795G>A	p.Arg1932His	p.R1932H	ENST00000374423	NM_020923.1	1932	cGt/cAt	0			1			A	R/H	uc002vbp.2	protein_coding	YES	CCDS46501.1			5795/7065									ovary(3)	3	c.(5794-5796)CGT>CAT			hmmpanther:PTHR21639:SF2,hmmpanther:PTHR21639	zinc finger, DBF-type containing 2				ENSP00000363545		5-May	3.31E-05			0.000348		1.51E-05			rs763186071,COSM2150473,COSM2150472	5-May	.		ENST00000374423	Transcript					nucleic acid binding|zinc ion binding	ENSG00000204186	g.chr2:207175047G>A	29313			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=ZDBF2_HUMAN&rb=39&re=2352&var=R1932H	NA	getma.org/?cm=var&var=hg19,2,207175047,G,A&fts=all	R1932H	--	--	1																																			0,1,1	1		benign(0.05)	p.R1932H	NM_020923	NP_065974		tolerated(0.9)	0,1,1	ZDBF2_HUMAN	ZDBF2	HGNC	Q9HCK1	ZDBF2_HUMAN			N0DVB2_HUMAN		5	6045	+			UPI000022BDE3	1932					SNV	ZDBF2,missense_variant,p.Arg1932His,ENST00000374423,NM_020923.1,NM_001285549.1;	uc002vbp.2	c.5795G>A	6181/10282	2	2			c.5795G>A						2	SNP	c.(5794-5796)CGT>CAT	45	45			ovary(3)	3	Broad	zinc finger, DBF-type containing 2			207175047		0.433	ENSG00000204186	17340	g.chr2:207175047G>A			nucleic acid binding|zinc ion binding							79.033444	KEEP	26	11	-1	55	51	26	11	-1	85.619621	55	51	0.258065	1	0	0	0	0	1	0	0	0	--	--		0	A				39	GBM-06-0184-TP	p.R1932H	G	CAAAAGGGGCGTGTGGCTTCT	NM_020923	NP_065974	207175047	Q9HCK1	ZDBF2_HUMAN	0			5	6045	+	A	A			Missense_Mutation	1932						
ZDBF2	0	broad.mit.edu	GRCh37	2	207169709	207169709	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374423.3:c.457C>T	p.His153Tyr	p.H153Y	ENST00000374423	NM_020923.1	153	Cat/Tat	0			1			T	H/Y	uc002vbp.2	protein_coding	YES	CCDS46501.1			457/7065									ovary(3)	3	c.(457-459)CAT>TAT			hmmpanther:PTHR21639:SF2,hmmpanther:PTHR21639	zinc finger, DBF-type containing 2				ENSP00000363545		5-May									COSM3407501,COSM3407502	5-May	.		ENST00000374423	Transcript					nucleic acid binding|zinc ion binding	ENSG00000204186	g.chr2:207169709C>T	29313			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=ZDBF2_HUMAN&rb=39&re=2352&var=H153Y	NA	getma.org/?cm=var&var=hg19,2,207169709,C,T&fts=all	H153Y	--	--	1																																			1,1	1		benign(0.152)	p.H153Y	NM_020923	NP_065974		tolerated(0.46)	1,1	ZDBF2_HUMAN	ZDBF2	HGNC	Q9HCK1	ZDBF2_HUMAN			N0DVB2_HUMAN		5	707	+			UPI000022BDE3	153					SNV	ZDBF2,missense_variant,p.His153Tyr,ENST00000374423,NM_020923.1,NM_001285549.1;	uc002vbp.2	c.457C>T	843/10282	2	2			c.457C>T						2	SNP	c.(457-459)CAT>TAT	24	24			ovary(3)	3	Broad	zinc finger, DBF-type containing 2			207169709		0.448	ENSG00000204186	17340	g.chr2:207169709C>T			nucleic acid binding|zinc ion binding							38.109655	KEEP	8	6	-1	11	13	8	6	-1	38.508528	11	13	0.388889	1	0	0	0	0	1	0	0	0	--	--		0	T				122	GBM-12-0692-TP	p.H153Y	C	GGAGTTTGTTCATAAAATTGG	NM_020923	NP_065974	207169709	Q9HCK1	ZDBF2_HUMAN	0			5	707	+	T	T			Missense_Mutation	153						
ZDBF2	0	broad.mit.edu	GRCh37	2	207173138	207173138	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01	TCGA-12-1597-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374423.3:c.3886G>A	p.Val1296Ile	p.V1296I	ENST00000374423	NM_020923.1	1296	Gta/Ata	0		A:0	1	A:0		A	V/I	uc002vbp.2	protein_coding	YES	CCDS46501.1			3886/7065									ovary(3)	3	c.(3886-3888)GTA>ATA			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21639:SF2,hmmpanther:PTHR21639	zinc finger, DBF-type containing 2		A:0		ENSP00000363545	A:0.001	5-May	4.14E-05		0.000269			3.08E-05			rs190838042,COSM298871,COSM298872	5-May	.		ENST00000374423	Transcript		A:0.0002			nucleic acid binding|zinc ion binding	ENSG00000204186	g.chr2:207173138G>A	29313			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=ZDBF2_HUMAN&rb=39&re=2352&var=V1296I	NA	getma.org/?cm=var&var=hg19,2,207173138,G,A&fts=all	V1296I	--	--	1																																			0,1,1	1		benign(0.002)	p.V1296I	NM_020923	NP_065974	A:0	deleterious(0.01)	0,1,1	ZDBF2_HUMAN	ZDBF2	HGNC	Q9HCK1	ZDBF2_HUMAN			N0DVB2_HUMAN		5	4136	+			UPI000022BDE3	1296					SNV	ZDBF2,missense_variant,p.Val1296Ile,ENST00000374423,NM_020923.1,NM_001285549.1;	uc002vbp.2	c.3886G>A	4272/10282	1	1			c.3886G>A						2	SNP	c.(3886-3888)GTA>ATA	54	54			ovary(3)	3	Broad	zinc finger, DBF-type containing 2			207173138		0.383	ENSG00000204186	17340	g.chr2:207173138G>A			nucleic acid binding|zinc ion binding							0.324353	KEEP	2	3	-1	23	34	2	3	-1	11.440382	23	34	0.080645	1	0	0	0	0	1	0	0	0	--	--		0	A				124	GBM-12-1597-TP	p.V1296I	G	CCTTCAGTCCGTAACTAATAA	NM_020923	NP_065974	207173138	Q9HCK1	ZDBF2_HUMAN	0			5	4136	+	A	A			Missense_Mutation	1296						
ZDBF2	0	broad.mit.edu	GRCh37	2	207176262	207176262	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01	TCGA-19-2631-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374423.3:c.7010G>A	p.Arg2337His	p.R2337H	ENST00000374423	NM_020923.1	2337	cGt/cAt	0			1			A	R/H	uc002vbp.2	protein_coding	YES	CCDS46501.1			7010/7065									ovary(3)	3	c.(7009-7011)CGT>CAT			hmmpanther:PTHR21639:SF2,hmmpanther:PTHR21639	zinc finger, DBF-type containing 2				ENSP00000363545		5-May	1.66E-05	0.000105				1.56E-05			rs767560772,COSM3407509,COSM3407510	5-May	.		ENST00000374423	Transcript					nucleic acid binding|zinc ion binding	ENSG00000204186	g.chr2:207176262G>A	29313			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=ZDBF2_HUMAN&rb=39&re=2352&var=R2337H	NA	getma.org/?cm=var&var=hg19,2,207176262,G,A&fts=all	R2337H	--	--	1																																			0,1,1	1		benign(0)	p.R2337H	NM_020923	NP_065974		deleterious(0.02)	0,1,1	ZDBF2_HUMAN	ZDBF2	HGNC	Q9HCK1	ZDBF2_HUMAN			N0DVB2_HUMAN		5	7260	+			UPI000022BDE3	2337					SNV	ZDBF2,missense_variant,p.Arg2337His,ENST00000374423,NM_020923.1,NM_001285549.1;	uc002vbp.2	c.7010G>A	7396/10282	1	1			c.7010G>A						2	SNP	c.(7009-7011)CGT>CAT	54	54			ovary(3)	3	Broad	zinc finger, DBF-type containing 2			207176262		0.428	ENSG00000204186	17340	g.chr2:207176262G>A			nucleic acid binding|zinc ion binding							66.437296	KEEP	9	15	-1	18	27	9	15	-1	67.000357	18	27	0.392857	1	0	0	0	0	1	0	0	0	--	--		0	A				167	GBM-19-2631-TP	p.R2337H	G	TTACAACAACGTGAGAGAATG	NM_020923	NP_065974	207176262	Q9HCK1	ZDBF2_HUMAN	0			5	7260	+	A	A			Missense_Mutation	2337						
ZDBF2	0	broad.mit.edu	GRCh37	2	207174442	207174442	+	synonymous_variant	Silent	SNP	G	G	A	rs140337696	by1000genomes	TCGA-26-6173-01	TCGA-26-6173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374423.3:c.5190G>A	p.Ser1730=	p.S1730=	ENST00000374423	NM_020923.1	1730	tcG/tcA	0	A:0.0005	A:0.0038	1	A:0		A	S	uc002vbp.2	protein_coding	YES	CCDS46501.1			5190/7065									ovary(3)	3	c.(5188-5190)TCG>TCA			hmmpanther:PTHR21639:SF2,hmmpanther:PTHR21639	zinc finger, DBF-type containing 2		A:0	A:0	ENSP00000363545	A:0	5-May	0.000116	0.00103				6.02E-05			rs140337696,COSM1015374,COSM1015375	5-May	common_variant		ENST00000374423	Transcript		A:0.0010			nucleic acid binding|zinc ion binding	ENSG00000204186	g.chr2:207174442G>A	29313			LOW								--	--	1																																			0,1,1	1			p.S1730S	NM_020923	NP_065974	A:0		0,1,1	ZDBF2_HUMAN	ZDBF2	HGNC	Q9HCK1	ZDBF2_HUMAN			N0DVB2_HUMAN		5	5440	+			UPI000022BDE3	1730					SNV	ZDBF2,synonymous_variant,p.=,ENST00000374423,NM_020923.1,NM_001285549.1;	uc002vbp.2	c.5190G>A	5576/10282	1	1			c.5190G>A						2	SNP	c.(5188-5190)TCG>TCA	64	64			ovary(3)	3	Broad	zinc finger, DBF-type containing 2			207174442		0.458	ENSG00000204186	17340	g.chr2:207174442G>A			nucleic acid binding|zinc ion binding							44.357393	KEEP	8	12	-1	23	13	8	12	-1	45.869533	23	13	0.320755	1	0	0	0	0	0	0	1	0	--	--		0	A				187	GBM-26-6173-TP	p.S1730S	G	AAAAACGTTCGAAGCTAAAAC	NM_020923	NP_065974	207174442	Q9HCK1	ZDBF2_HUMAN	0			5	5440	+	A	A			Silent	1730						
ZDBF2	0	broad.mit.edu	GRCh37	2	207171009	207171009	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-28-5216-01	TCGA-28-5216-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374423.3:c.1757A>G	p.Asp586Gly	p.D586G	ENST00000374423	NM_020923.1	586	gAt/gGt	0			1			G	D/G	uc002vbp.2	protein_coding	YES	CCDS46501.1			1757/7065									ovary(3)	3	c.(1756-1758)GAT>GGT			hmmpanther:PTHR21639:SF2,hmmpanther:PTHR21639	zinc finger, DBF-type containing 2				ENSP00000363545		5-May									COSM3407503,COSM3407504	5-May	.		ENST00000374423	Transcript					nucleic acid binding|zinc ion binding	ENSG00000204186	g.chr2:207171009A>G	29313			MODERATE		1.975	medium	getma.org/?cm=msa&ty=f&p=ZDBF2_HUMAN&rb=39&re=2352&var=D586G	NA	getma.org/?cm=var&var=hg19,2,207171009,A,G&fts=all	D586G	--	--	1																																			1,1	1		possibly_damaging(0.857)	p.D586G	NM_020923	NP_065974		deleterious(0.03)	1,1	ZDBF2_HUMAN	ZDBF2	HGNC	Q9HCK1	ZDBF2_HUMAN			N0DVB2_HUMAN		5	2007	+			UPI000022BDE3	586					SNV	ZDBF2,missense_variant,p.Asp586Gly,ENST00000374423,NM_020923.1,NM_001285549.1;	uc002vbp.2	c.1757A>G	2143/10282	3	3			c.1757A>G						2	SNP	c.(1756-1758)GAT>GGT	52	52			ovary(3)	3	Broad	zinc finger, DBF-type containing 2			207171009		0.428	ENSG00000204186	17340	g.chr2:207171009A>G			nucleic acid binding|zinc ion binding							76.968477	KEEP	14	15	-1	28	42	14	15	-1	80.739983	28	42	0.27907	1	0	0	0	0	1	0	0	0	--	--		0	G				223	GBM-28-5216-TP	p.D586G	A	TTTGATTGTGATGTTTCTCTT	NM_020923	NP_065974	207171009	Q9HCK1	ZDBF2_HUMAN	0			5	2007	+	G	G			Missense_Mutation	586						
ZDBF2	0	broad.mit.edu	GRCh37	2	207174816	207174816	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-41-2575-01	TCGA-41-2575-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374423.3:c.5564T>G	p.Phe1855Cys	p.F1855C	ENST00000374423	NM_020923.1	1855	tTc/tGc	0			1			G	F/C	uc002vbp.2	protein_coding	YES	CCDS46501.1			5564/7065									ovary(3)	3	c.(5563-5565)TTC>TGC			hmmpanther:PTHR21639:SF2,hmmpanther:PTHR21639	zinc finger, DBF-type containing 2				ENSP00000363545		5-May									COSM3407507,COSM3407508	5-May	.		ENST00000374423	Transcript					nucleic acid binding|zinc ion binding	ENSG00000204186	g.chr2:207174816T>G	29313			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=ZDBF2_HUMAN&rb=39&re=2352&var=F1855C	NA	getma.org/?cm=var&var=hg19,2,207174816,T,G&fts=all	F1855C	--	--	1																																			1,1	1		possibly_damaging(0.759)	p.F1855C	NM_020923	NP_065974		deleterious(0)	1,1	ZDBF2_HUMAN	ZDBF2	HGNC	Q9HCK1	ZDBF2_HUMAN			N0DVB2_HUMAN		5	5814	+			UPI000022BDE3	1855					SNV	ZDBF2,missense_variant,p.Phe1855Cys,ENST00000374423,NM_020923.1,NM_001285549.1;	uc002vbp.2	c.5564T>G	5950/10282	3	3			c.5564T>G						2	SNP	c.(5563-5565)TTC>TGC	2	2			ovary(3)	3	Broad	zinc finger, DBF-type containing 2			207174816		0.418	ENSG00000204186	17340	g.chr2:207174816T>G			nucleic acid binding|zinc ion binding							137.68086	KEEP	16	22	-1	19	16	16	22	-1	137.730645	19	16	0.528571	1	0	0	0	0	1	0	0	0	--	--		0	G				253	GBM-41-2575-TP	p.F1855C	T	GAAGGTCGTTTCCACTGTTAC	NM_020923	NP_065974	207174816	Q9HCK1	ZDBF2_HUMAN	0			5	5814	+	G	G			Missense_Mutation	1855						
ZDBF2	0	broad.mit.edu	GRCh37	2	207173022	207173022	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-4934-01	TCGA-76-4934-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374423.3:c.3770C>A	p.Pro1257His	p.P1257H	ENST00000374423	NM_020923.1	1257	cCt/cAt	0			1			A	P/H	uc002vbp.2	protein_coding	YES	CCDS46501.1			3770/7065									ovary(3)	3	c.(3769-3771)CCT>CAT			hmmpanther:PTHR21639:SF2,hmmpanther:PTHR21639	zinc finger, DBF-type containing 2				ENSP00000363545		5-May									COSM3407505,COSM3407506	5-May	.		ENST00000374423	Transcript					nucleic acid binding|zinc ion binding	ENSG00000204186	g.chr2:207173022C>A	29313			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=ZDBF2_HUMAN&rb=39&re=2352&var=P1257H	NA	getma.org/?cm=var&var=hg19,2,207173022,C,A&fts=all	P1257H	--	--	1																																			1,1	1		possibly_damaging(0.893)	p.P1257H	NM_020923	NP_065974		deleterious(0)	1,1	ZDBF2_HUMAN	ZDBF2	HGNC	Q9HCK1	ZDBF2_HUMAN			N0DVB2_HUMAN		5	4020	+			UPI000022BDE3	1257					SNV	ZDBF2,missense_variant,p.Pro1257His,ENST00000374423,NM_020923.1,NM_001285549.1;	uc002vbp.2	c.3770C>A	4156/10282	1	1			c.3770C>A						2	SNP	c.(3769-3771)CCT>CAT	52	52			ovary(3)	3	Broad	zinc finger, DBF-type containing 2			207173022		0.383	ENSG00000204186	17340	g.chr2:207173022C>A			nucleic acid binding|zinc ion binding							43.351538	KEEP	12	11	0.47826087	16	26	12	11	0.47826087	45.001445	16	26	0.314815	1	0	0	0	0	1	0	0	0	--	--		0	A				272	GBM-76-4934-TP	p.P1257H	C	GCTGGCCAACCTGAAGAAGTA	NM_020923	NP_065974	207173022	Q9HCK1	ZDBF2_HUMAN	0			5	4020	+	A	A			Missense_Mutation	1257						
ZDHHC1	0	broad.mit.edu	GRCh37	16	67429021	67429021	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-14-0786-01	TCGA-14-0786-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000348579.2:c.1114T>A	p.Ser372Thr	p.S372T	ENST00000348579	NM_013304.2	372	Tcg/Acg	0			1			T	S/T	uc010vjm.1	protein_coding	YES	CCDS10836.1			1114/1458										0	c.(1114-1116)TCG>ACG			hmmpanther:PTHR22883,hmmpanther:PTHR22883:SF8	zinc finger, DHHC-type containing 1				ENSP00000340299		11-Oct									COSM3402415	11-Oct	.		ENST00000348579	Transcript				integral to membrane	DNA binding|zinc ion binding	ENSG00000159714	g.chr16:67429021A>T	17916			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=ZDHC1_HUMAN&rb=286&re=485&var=S372T	NA	getma.org/?cm=var&var=hg19,16,67429021,A,T&fts=all	S372T	--	--	1																																		TPPP3_uc002eta.2_5'Flank|TPPP3_uc002etb.2_5'Flank	1	1		benign(0)	p.S372T	NM_013304	NP_037436		tolerated_low_confidence(1)	1	ZDHC1_HUMAN	ZDHHC1	HGNC	Q8WTX9	ZDHC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)			10	1418	-		Ovarian(137;0.223)	UPI000013C37E	372					SNV	ZDHHC1,missense_variant,p.Ser372Thr,ENST00000348579,NM_013304.2;ZDHHC1,intron_variant,,ENST00000565726,;TPPP3,upstream_gene_variant,,ENST00000564104,;TPPP3,upstream_gene_variant,,ENST00000562206,;TPPP3,upstream_gene_variant,,ENST00000290942,NM_016140.2;TPPP3,upstream_gene_variant,,ENST00000393957,NM_015964.2;RNU1-123P,upstream_gene_variant,,ENST00000458950,;ZDHHC1,intron_variant,,ENST00000566075,;ZDHHC1,downstream_gene_variant,,ENST00000562122,;ZDHHC1,downstream_gene_variant,,ENST00000567311,;TPPP3,upstream_gene_variant,,ENST00000561537,;	uc010vjm.1	c.1114T>A	1456/2047	1	1			c.1114T>A						16	SNP	c.(1114-1116)TCG>ACG	8	8				0	Broad	zinc finger, DHHC-type containing 1			67429021		0.622	ENSG00000159714	17341	g.chr16:67429021A>T		integral to membrane	DNA binding|zinc ion binding							20.522466	KEEP	7	5	-1	10	16	7	5	-1	21.505802	10	16	0.296296	1	0	0	0	0	1	0	0	0	--	--		0	T			TPPP3_uc002eta.2_5'Flank|TPPP3_uc002etb.2_5'Flank	134	GBM-14-0786-TP	p.S372T	A	AGCAGAGGCGAGCGCCAGGGT	NM_013304	NP_037436	67429021	Q8WTX9	ZDHC1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)	10	1418	-	T	T		Ovarian(137;0.223)	Missense_Mutation	372						
ZDHHC11	79844	broad.mit.edu	GRCh37	5	837585	837585	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0158-01	TCGA-06-0158-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000283441.8:c.795G>A	p.Lys265=	p.K265=	ENST00000283441	NM_024786.2	265	aaG/aaA	0			1			T	K	uc011cma.1	protein_coding	YES	CCDS3857.1			795/1239									skin(1)|pancreas(1)	2	c.(793-795)AAG>AAA			Pfam_domain:PF01529,hmmpanther:PTHR22883,hmmpanther:PTHR22883:SF22	zinc finger, DHHC-type containing 11				ENSP00000283441		13-Jun									COSM3410454,COSM3410455	13-Jun	.		ENST00000283441	Transcript				integral to membrane	acyltransferase activity|zinc ion binding	ENSG00000188818	g.chr5:837585C>T	19158			LOW								--	--	1																																		ZDHHC11_uc003jbj.2_RNA|ZDHHC11_uc010itd.1_RNA	1,1	1			p.K265K	NM_024786	NP_079062			1,1	ZDH11_HUMAN	ZDHHC11	HGNC	Q9H8X9	ZDH11_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)				6	1179	-			UPI000013C384	265					SNV	ZDHHC11,synonymous_variant,p.=,ENST00000283441,NM_024786.2;ZDHHC11,synonymous_variant,p.=,ENST00000424784,;ZDHHC11,synonymous_variant,p.=,ENST00000511193,;ZDHHC11,downstream_gene_variant,,ENST00000511539,;ZDHHC11,non_coding_transcript_exon_variant,,ENST00000503758,;ZDHHC11,non_coding_transcript_exon_variant,,ENST00000508951,;ZDHHC11,synonymous_variant,p.=,ENST00000507800,;ZDHHC11,downstream_gene_variant,,ENST00000505815,;ZDHHC11,downstream_gene_variant,,ENST00000512190,;	uc011cma.1	c.795G>A	1179/2604	1	1			c.795G>A						5	SNP	c.(793-795)AAG>AAA	6	6			skin(1)|pancreas(1)	2	Broad	zinc finger, DHHC-type containing 11			837585		0.502	ENSG00000188818	17342	g.chr5:837585C>T		integral to membrane	acyltransferase activity|zinc ion binding							-54.332643	KEEP	4	3	-1	159	152	4	3	-1	13.714268	159	152	0.025641	1	0	0	0	0	0	0	1	0	--	--		0	T			ZDHHC11_uc003jbj.2_RNA|ZDHHC11_uc010itd.1_RNA	29	GBM-06-0158-TP	p.K265K	C	AGGTGGTCATCTTCTTGGCCT	NM_024786	NP_079062	837585	Q9H8X9	ZDH11_HUMAN	0	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)		6	1179	-	T	T			Silent	265						
ZDHHC2	51201	broad.mit.edu	GRCh37	8	17072848	17072848	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-02-0033-01	TCGA-02-0033-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262096.8:c.1053A>G	p.Lys351=	p.K351=	ENST00000262096	NM_016353.4	351	aaA/aaG	0			1			G	K	uc003wxe.2	protein_coding	YES	CCDS47810.1			1053/1104										0	c.(1051-1053)AAA>AAG			hmmpanther:PTHR22883:SF14,hmmpanther:PTHR22883	zinc finger, DHHC-type containing 2				ENSP00000262096		13-Nov									COSM2148951	13-Nov	.		ENST00000262096	Transcript				integral to membrane	acyltransferase activity|zinc ion binding	ENSG00000104219	g.chr8:17072848A>G	18469			LOW								--	--	1																																			1	1			p.K351K	NM_016353	NP_057437			1	ZDHC2_HUMAN	ZDHHC2	HGNC	Q9UIJ5	ZDHC2_HUMAN		Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)	E5RFZ7_HUMAN,B3KMD6_HUMAN		11	1450	+			UPI000004A02F	351					SNV	ZDHHC2,synonymous_variant,p.=,ENST00000262096,NM_016353.4;	uc003wxe.2	c.1053A>G	1748/6377	3	3			c.1053A>G						8	SNP	c.(1051-1053)AAA>AAG	52	52				0	Broad	zinc finger, DHHC-type containing 2			17072848		0.403	ENSG00000104219	17351	g.chr8:17072848A>G		integral to membrane	acyltransferase activity|zinc ion binding							18.441202	KEEP	5	1	-1	4	14	5	1	-1	19.464755	4	14	0.272727	1	0	0	0	0	0	0	1	0	--	--		0	G				2	GBM-02-0033-TP	p.K351K	A	ACCCAGGAAAATGCAAAGCTG	NM_016353	NP_057437	17072848	Q9UIJ5	ZDHC2_HUMAN	0		Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)	11	1450	+	G	G			Silent	351						
ZDHHC4	55146	broad.mit.edu	GRCh37	7	6621848	6621849	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0124-01	TCGA-06-0124-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396706.2:c.344dup	p.Thr116HisfsTer16	p.T116Hfs*16	ENST00000396706		112	-/T	0			1			T	-/X	uc003sqi.2	protein_coding		CCDS5352.1			336-337/1035									breast(1)|pancreas(1)	2	c.(334-339)CTGTTTfs			Transmembrane_helices:TMhelix,hmmpanther:PTHR22883:SF47,hmmpanther:PTHR22883	zinc finger, DHHC-type containing 4				ENSP00000337475		8-May										8-May	.		ENST00000335965	Transcript				integral to membrane	acyltransferase activity|zinc ion binding	ENSG00000136247	g.chr7:6621848_6621849insT	18471	8		HIGH								--	--	1																																		ZDHHC4_uc003sqg.2_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sql.2_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sqh.2_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sqj.2_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sqk.2_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sqm.2_Frame_Shift_Ins_p.L112fs					p.L112fs	NM_001134388	NP_001127860				ZDHC4_HUMAN	ZDHHC4	HGNC	Q9NPG8	ZDHC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)	C9J5I9_HUMAN		6	694_695	+		Ovarian(82;0.232)	UPI0000048F5A	112_113			Helical; (Potential).		insertion	ZDHHC4,frameshift_variant,p.Thr116HisfsTer16,ENST00000396706,;ZDHHC4,frameshift_variant,p.Thr116HisfsTer16,ENST00000396713,NM_001134387.1;ZDHHC4,frameshift_variant,p.Thr116HisfsTer16,ENST00000396709,;ZDHHC4,frameshift_variant,p.Thr116HisfsTer16,ENST00000396707,NM_001134388.1;ZDHHC4,frameshift_variant,p.Thr116HisfsTer16,ENST00000405731,NM_001134389.1,NM_018106.3;ZDHHC4,frameshift_variant,p.Thr116HisfsTer16,ENST00000335965,;ZDHHC4,frameshift_variant,p.Thr116HisfsTer16,ENST00000483589,;AC079742.4,intron_variant,,ENST00000434951,;ZDHHC4,downstream_gene_variant,,ENST00000496017,;ZDHHC4,non_coding_transcript_exon_variant,,ENST00000474097,;ZDHHC4,non_coding_transcript_exon_variant,,ENST00000493944,;ZDHHC4,upstream_gene_variant,,ENST00000474738,;ZDHHC4,downstream_gene_variant,,ENST00000489138,;	uc003sqi.2	c.336_337insT	544-545/1259	5	5			c.336_337insT						7	INS	c.(334-339)CTGTTTfs	26	26			breast(1)|pancreas(1)	2	Broad	zinc finger, DHHC-type containing 4			6621849		0.45	ENSG00000136247	17358	g.chr7:6621848_6621849insT		integral to membrane	acyltransferase activity|zinc ion binding																				0.02	1	0	0	1	1	0	0	0	0	--	--		0	T			ZDHHC4_uc003sqg.2_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sql.2_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sqh.2_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sqj.2_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sqk.2_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sqm.2_Frame_Shift_Ins_p.L112fs	11	GBM-06-0124-TP	p.L112fs	-	GTGTAAACCTGTTTTTTTTCAC	NM_001134388	NP_001127860	6621848	Q9NPG8	ZDHC4_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)	6	694_695	+	T	T		Ovarian(82;0.232)	Frame_Shift_Ins	112_113			Helical; (Potential).			
ZDHHC4	0	broad.mit.edu	GRCh37	7	6628405	6628405	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01	TCGA-41-5651-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335965.6:c.899G>A	p.Arg300His	p.R300H	ENST00000335965		300	cGt/cAt	0			1			A	R/H	uc003sqi.2	protein_coding		CCDS5352.1			899/1035									breast(1)|pancreas(1)	2	c.(898-900)CGT>CAT			hmmpanther:PTHR22883:SF47,hmmpanther:PTHR22883	zinc finger, DHHC-type containing 4				ENSP00000337475		8-Aug	3.29E-05		0.000259				0.0011		rs781761812,COSM121059	8-Aug	.		ENST00000335965	Transcript				integral to membrane	acyltransferase activity|zinc ion binding	ENSG00000136247	g.chr7:6628405G>A	18471			MODERATE		-0.66	neutral	getma.org/?cm=msa&ty=f&p=ZDHC4_HUMAN&rb=295&re=344&var=R300H	NA	getma.org/?cm=var&var=hg19,7,6628405,G,A&fts=all	R300H	0	neutral	1																																		ZDHHC4_uc003sql.2_Missense_Mutation_p.R300H|ZDHHC4_uc003sqh.2_Missense_Mutation_p.R300H|ZDHHC4_uc003sqj.2_Missense_Mutation_p.R300H|ZDHHC4_uc003sqk.2_Missense_Mutation_p.R300H|ZDHHC4_uc003sqm.2_Missense_Mutation_p.R300H|uc011jwy.1_5'Flank|C7orf26_uc003sqo.1_5'Flank|C7orf26_uc003sqp.1_5'Flank|C7orf26_uc003sqq.1_5'Flank	0,1			benign(0)	p.R300H	NM_001134388	NP_001127860		tolerated(1)	0,1	ZDHC4_HUMAN	ZDHHC4	HGNC	Q9NPG8	ZDHC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)	C9J5I9_HUMAN		9	1257	+		Ovarian(82;0.232)	UPI0000048F5A	300					SNV	ZDHHC4,missense_variant,p.Arg300His,ENST00000396706,;ZDHHC4,missense_variant,p.Arg300His,ENST00000396713,NM_001134387.1;ZDHHC4,missense_variant,p.Arg300His,ENST00000396709,;ZDHHC4,missense_variant,p.Arg300His,ENST00000396707,NM_001134388.1;ZDHHC4,missense_variant,p.Arg300His,ENST00000405731,NM_001134389.1,NM_018106.3;ZDHHC4,missense_variant,p.Arg300His,ENST00000335965,;C7orf26,upstream_gene_variant,,ENST00000344417,NM_024067.2;C7orf26,upstream_gene_variant,,ENST00000359073,;AC079742.4,non_coding_transcript_exon_variant,,ENST00000434951,;C7orf26,upstream_gene_variant,,ENST00000472693,;ZDHHC4,non_coding_transcript_exon_variant,,ENST00000474738,;ZDHHC4,downstream_gene_variant,,ENST00000474097,;	uc003sqi.2	c.899G>A	1107/1259	2	2			c.899G>A						7	SNP	c.(898-900)CGT>CAT	35	35			breast(1)|pancreas(1)	2	Broad	zinc finger, DHHC-type containing 4			6628405		0.577	ENSG00000136247	17358	g.chr7:6628405G>A		integral to membrane	acyltransferase activity|zinc ion binding							95.647305	KEEP	20	20	-1	33	62	20	20	-1	100.462707	33	62	0.29771	1	0	0	0	0	1	0	0	0	0	neutral		0	A			ZDHHC4_uc003sql.2_Missense_Mutation_p.R300H|ZDHHC4_uc003sqh.2_Missense_Mutation_p.R300H|ZDHHC4_uc003sqj.2_Missense_Mutation_p.R300H|ZDHHC4_uc003sqk.2_Missense_Mutation_p.R300H|ZDHHC4_uc003sqm.2_Missense_Mutation_p.R300H|uc011jwy.1_5'Flank|C7orf26_uc003sqo.1_5'Flank|C7orf26_uc003sqp.1_5'Flank|C7orf26_uc003sqq.1_5'Flank	258	GBM-41-5651-TP	p.R300H	G	TGGTGCCAGCGTTGTCCCCTT	NM_001134388	NP_001127860	6628405	Q9NPG8	ZDHC4_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)	9	1257	+	A	A		Ovarian(82;0.232)	Missense_Mutation	300						
ZDHHC4	55146		GRCh37	7	6628405	6628405	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000396706.2:c.899G>A	p.Arg300His	p.R300H	ENST00000396706		300	cGt/cAt	0																																																																																																																																																																																																																																												
ZDHHC4	55146		GRCh37	7	6628405	6628405	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000396706.2:c.899G>A	p.Arg300His	p.R300H	ENST00000396706		300	cGt/cAt	0																																																																																																																																																																																																																																												
ZFAND1	0	broad.mit.edu	GRCh37	8	82626245	82626245	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6191-01	TCGA-76-6191-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000220669.5:c.388C>T	p.Arg130Ter	p.R130*	ENST00000220669	NM_024699.2	130	Cga/Tga	0			1			A	R/*	uc003ycj.1	protein_coding	YES	CCDS6232.1			388/807								p.R130*(1)	ovary(1)	1	c.(388-390)CGA>TGA			hmmpanther:PTHR14677,hmmpanther:PTHR14677:SF12	zinc finger, AN1-type domain 1				ENSP00000220669		8-Jun									COSM79110	8-Jun	.		ENST00000220669	Transcript					zinc ion binding	ENSG00000104231	g.chr8:82626245G>A	25858			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,8,82626245,G,A&fts=all	R130*	--	--	1																																		ZFAND1_uc010lzx.1_Nonsense_Mutation_p.R130*|ZFAND1_uc003yck.1_Nonsense_Mutation_p.R23*	1	1			p.R130*	NM_024699	NP_078975			1	ZFAN1_HUMAN	ZFAND1	HGNC	Q8TCF1	ZFAN1_HUMAN			Q05BD2_HUMAN,E5RK75_HUMAN,E5RJ74_HUMAN,E5RIH7_HUMAN,E5RHR9_HUMAN,E5RG60_HUMAN,E5RFU1_HUMAN		6	402	-			UPI0000072F9B	130					SNV	ZFAND1,stop_gained,p.Arg130Ter,ENST00000220669,NM_024699.2;ZFAND1,stop_gained,p.Arg130Ter,ENST00000523096,NM_001170796.1;ZFAND1,stop_gained,p.Arg23Ter,ENST00000522520,;ZFAND1,stop_gained,p.Arg23Ter,ENST00000521895,;ZFAND1,stop_gained,p.Arg23Ter,ENST00000520635,;ZFAND1,stop_gained,p.Arg23Ter,ENST00000521287,;ZFAND1,stop_gained,p.Arg130Ter,ENST00000519523,NM_001170797.1;ZFAND1,stop_gained,p.Arg23Ter,ENST00000520604,;ZFAND1,stop_gained,p.Arg23Ter,ENST00000517588,;ZFAND1,stop_gained,p.Arg23Ter,ENST00000521742,;ZFAND1,stop_gained,p.Arg23Ter,ENST00000520076,;ZFAND1,stop_gained,p.Arg23Ter,ENST00000518419,;ZFAND1,stop_gained,p.Arg23Ter,ENST00000517450,;ZFAND1,stop_gained,p.Arg23Ter,ENST00000523361,;ZFAND1,downstream_gene_variant,,ENST00000520941,;ZFAND1,downstream_gene_variant,,ENST00000523012,;ZFAND1,stop_gained,p.Arg130Ter,ENST00000519464,;ZFAND1,stop_gained,p.Arg23Ter,ENST00000523431,;ZFAND1,stop_gained,p.Arg11Ter,ENST00000522032,;ZFAND1,non_coding_transcript_exon_variant,,ENST00000524305,;ZFAND1,downstream_gene_variant,,ENST00000517353,;ZFAND1,downstream_gene_variant,,ENST00000524339,;ZFAND1,downstream_gene_variant,,ENST00000519820,;ZFAND1,downstream_gene_variant,,ENST00000521885,;	uc003ycj.1	c.388C>T	407/1798	5	2			c.388C>T						8	SNP	c.(388-390)CGA>TGA	17	17		p.R130*(1)	ovary(1)	1	Broad	zinc finger, AN1-type domain 1			82626245		0.343	ENSG00000104231	17367	g.chr8:82626245G>A			zinc ion binding							87.398522	KEEP	18	12	-1	13	20	18	12	-1	87.398522	13	20	0.5	1	0	0	0	0	0	1	0	0	--	--		0	A			ZFAND1_uc010lzx.1_Nonsense_Mutation_p.R130*|ZFAND1_uc003yck.1_Nonsense_Mutation_p.R23*	274	GBM-76-6191-TP	p.R130*	G	CCTTTCCATCGTTTACTTGCT	NM_024699	NP_078975	82626245	Q8TCF1	ZFAN1_HUMAN	0			6	402	-	A	A			Nonsense_Mutation	130						
ZFAND3	0	broad.mit.edu	GRCh37	6	38084429	38084429	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-32-1991-01	TCGA-32-1991-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000287218.4:c.443G>C	p.Arg148Pro	p.R148P	ENST00000287218	NM_021943.2	148	cGa/cCa	0			1			C	R/P	uc003onx.2	protein_coding	YES	CCDS4836.1			443/684									ovary(1)	1	c.(442-444)CGA>CCA			Low_complexity_(Seg):seg,Superfamily_domains:SSF118310,Gene3D:4.10.1110.10,hmmpanther:PTHR10634,hmmpanther:PTHR10634:SF5	zinc finger, AN1-type domain 3				ENSP00000287218		6-May									COSM3411042	6-May	.		ENST00000287218	Transcript					DNA binding|zinc ion binding	ENSG00000156639	g.chr6:38084429G>C	18019			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=ZFAN3_HUMAN&rb=38&re=156&var=R148P	NA	getma.org/?cm=var&var=hg19,6,38084429,G,C&fts=all	R148P	--	--	1																																			1	1		possibly_damaging(0.599)	p.R148P	NM_021943	NP_068762		tolerated(0.16)	1	ZFAN3_HUMAN	ZFAND3	HGNC	Q9H8U3	ZFAN3_HUMAN					5	858	+			UPI000006E3A4	148					SNV	ZFAND3,missense_variant,p.Arg148Pro,ENST00000287218,NM_021943.2;ZFAND3,missense_variant,p.Arg126Pro,ENST00000373391,;ZFAND3,missense_variant,p.Arg179Pro,ENST00000474522,;ZFAND3,missense_variant,p.Arg125Pro,ENST00000373389,;ZFAND3,non_coding_transcript_exon_variant,,ENST00000440482,;	uc003onx.2	c.443G>C	890/3366	3	3			c.443G>C						6	SNP	c.(442-444)CGA>CCA	64	64			ovary(1)	1	Broad	zinc finger, AN1-type domain 3			38084429		0.507	ENSG00000156639	17370	g.chr6:38084429G>C			DNA binding|zinc ion binding							241.690808	KEEP	30	41	-1	44	63	30	41	-1	243.116717	44	63	0.401198	1	0	0	0	0	1	0	0	0	--	--		0	C				234	GBM-32-1991-TP	p.R148P	G	GAAACCAGTCGATCTAAACAG	NM_021943	NP_068762	38084429	Q9H8U3	ZFAN3_HUMAN	0			5	858	+	C	C			Missense_Mutation	148						
ZFAT	0	broad.mit.edu	GRCh37	8	135612748	135612748	+	synonymous_variant	Silent	SNP	G	G	A	rs144002982	by1000genomes	TCGA-12-3653-01	TCGA-12-3653-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377838.3:c.2406C>T	p.Thr802=	p.T802=	ENST00000377838	NM_020863.3	802	acC/acT	0		A:0.0008	1	A:0		A	T	uc003yup.2	protein_coding	YES	CCDS47924.1			2406/3732									central_nervous_system(1)	1	c.(2404-2406)ACC>ACT			hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF0,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 406 isoform ZFAT-1		A:0		ENSP00000367069	A:0	16-Jul	8.27E-05	0.000102		0.000116		1.50E-05		0.000424	rs144002982,COSM3318595,COSM3318594	16-Jul	common_variant		ENST00000377838	Transcript		A:0.0004	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	ENSG00000066827	g.chr8:135612748G>A	19899			LOW								--	--	1																																		ZFAT_uc003yun.2_Silent_p.T790T|ZFAT_uc003yuo.2_Silent_p.T790T|ZFAT_uc010meh.2_Silent_p.T790T|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Silent_p.T790T|ZFAT_uc010mej.2_Silent_p.T740T|ZFAT_uc003yur.2_Silent_p.T790T|ZFATAS_uc003yus.1_RNA	0,1,1	1			p.T802T	NM_020863	NP_065914	A:0.001		0,1,1	ZFAT_HUMAN	ZFAT	HGNC	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)				7	2581	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		UPI0000210061	802			C2H2-type 12.		SNV	ZFAT,synonymous_variant,p.=,ENST00000520727,NM_001029939.3;ZFAT,synonymous_variant,p.=,ENST00000377838,NM_020863.3,NM_001174157.1;ZFAT,synonymous_variant,p.=,ENST00000429442,;ZFAT,synonymous_variant,p.=,ENST00000520214,NM_001167583.2;ZFAT,synonymous_variant,p.=,ENST00000520356,NM_001174158.1;ZFAT,synonymous_variant,p.=,ENST00000523399,;ZFAT-AS1,non_coding_transcript_exon_variant,,ENST00000505776,;ZFAT,downstream_gene_variant,,ENST00000523040,;ZFAT,synonymous_variant,p.=,ENST00000523243,;ZFAT,synonymous_variant,p.=,ENST00000519827,;ZFAT,3_prime_UTR_variant,,ENST00000523924,;ZFAT,non_coding_transcript_exon_variant,,ENST00000522974,;	uc003yup.2	c.2406C>T	2581/4597	1	1			c.2406C>T						8	SNP	c.(2404-2406)ACC>ACT	50	50			central_nervous_system(1)	1	Broad	zinc finger protein 406 isoform ZFAT-1			135612748		0.448	ENSG00000066827	17373	g.chr8:135612748G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding							-83.501101	KEEP	3	3	-1	206	183	3	3	-1	8.36878	206	183	0.014577	1	0	0	0	0	0	0	1	0	--	--		0	A			ZFAT_uc003yun.2_Silent_p.T790T|ZFAT_uc003yuo.2_Silent_p.T790T|ZFAT_uc010meh.2_Silent_p.T790T|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Silent_p.T790T|ZFAT_uc010mej.2_Silent_p.T740T|ZFAT_uc003yur.2_Silent_p.T790T|ZFATAS_uc003yus.1_RNA	128	GBM-12-3653-TP	p.T802T	G	CACAGCCATCGGTGGGACACT	NM_020863	NP_065914	135612748	Q9P243	ZFAT_HUMAN	0	BRCA - Breast invasive adenocarcinoma(115;0.0432)		7	2581	-	A	A	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		Silent	802			C2H2-type 12.			
ZFAT	0	broad.mit.edu	GRCh37	8	135613849	135613849	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01	TCGA-14-0740-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377838.3:c.2113G>A	p.Ala705Thr	p.A705T	ENST00000377838	NM_020863.3	705	Gcc/Acc	0			1			T	A/T	uc003yup.2	protein_coding	YES	CCDS47924.1			2113/3732									central_nervous_system(1)	1	c.(2113-2115)GCC>ACC			hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF0	zinc finger protein 406 isoform ZFAT-1				ENSP00000367069		16-Jun									COSM3412775,COSM3412774	16-Jun	.		ENST00000377838	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	ENSG00000066827	g.chr8:135613849C>T	19899			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=ZFAT_HUMAN&rb=682&re=769&var=A705T	NA	getma.org/?cm=var&var=hg19,8,135613849,C,T&fts=all	A705T	--	--	1																																		ZFAT_uc003yun.2_Missense_Mutation_p.A693T|ZFAT_uc003yuo.2_Missense_Mutation_p.A693T|ZFAT_uc010meh.2_Missense_Mutation_p.A693T|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.A693T|ZFAT_uc010mej.2_Missense_Mutation_p.A643T|ZFAT_uc003yur.2_Missense_Mutation_p.A693T	1,1	1		benign(0.01)	p.A705T	NM_020863	NP_065914		tolerated(0.34)	1,1	ZFAT_HUMAN	ZFAT	HGNC	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)				6	2288	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		UPI0000210061	705					SNV	ZFAT,missense_variant,p.Ala693Thr,ENST00000520727,NM_001029939.3;ZFAT,missense_variant,p.Ala705Thr,ENST00000377838,NM_020863.3,NM_001174157.1;ZFAT,missense_variant,p.Ala693Thr,ENST00000429442,;ZFAT,missense_variant,p.Ala693Thr,ENST00000520214,NM_001167583.2;ZFAT,missense_variant,p.Ala693Thr,ENST00000520356,NM_001174158.1;ZFAT,missense_variant,p.Ala643Thr,ENST00000523399,;ZFAT-AS1,downstream_gene_variant,,ENST00000505776,;ZFAT,downstream_gene_variant,,ENST00000523040,;ZFAT,missense_variant,p.Ala705Thr,ENST00000523243,;ZFAT,3_prime_UTR_variant,,ENST00000523924,;ZFAT,non_coding_transcript_exon_variant,,ENST00000522974,;ZFAT,upstream_gene_variant,,ENST00000519827,;	uc003yup.2	c.2113G>A	2288/4597	2	2			c.2113G>A						8	SNP	c.(2113-2115)GCC>ACC	41	41			central_nervous_system(1)	1	Broad	zinc finger protein 406 isoform ZFAT-1			135613849		0.557	ENSG00000066827	17373	g.chr8:135613849C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding							128.685219	KEEP	26	29	-1	33	36	26	29	-1	129.022052	33	36	0.440367	1	0	0	0	0	1	0	0	0	--	--		0	T			ZFAT_uc003yun.2_Missense_Mutation_p.A693T|ZFAT_uc003yuo.2_Missense_Mutation_p.A693T|ZFAT_uc010meh.2_Missense_Mutation_p.A693T|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.A693T|ZFAT_uc010mej.2_Missense_Mutation_p.A643T|ZFAT_uc003yur.2_Missense_Mutation_p.A693T	132	GBM-14-0740-TP	p.A705T	C	TGCTCAGGGGCAGCTTTGCAA	NM_020863	NP_065914	135613849	Q9P243	ZFAT_HUMAN	0	BRCA - Breast invasive adenocarcinoma(115;0.0432)		6	2288	-	T	T	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	705						
ZFC3H1	196441	broad.mit.edu	GRCh37	12	72057129	72057129	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0750-01	TCGA-06-0750-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378743.3:c.262C>T	p.Arg88Cys	p.R88C	ENST00000378743	NM_144982.4	88	Cgc/Tgc	0			1			A	R/C	uc001swo.2	protein_coding	YES	CCDS41813.1			262/5970									ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	c.(262-264)CGC>TGC				proline/serine-rich coiled-coil 2				ENSP00000368017		Jan-35									COSM2151973	Jan-35	.		ENST00000378743	Transcript			RNA processing	intracellular	metal ion binding	ENSG00000133858	g.chr12:72057129G>A	28328			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=ZC3H1_HUMAN&rb=1&re=696&var=R88C	NA	getma.org/?cm=var&var=hg19,12,72057129,G,A&fts=all	R88C	--	--	1																																OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ZFC3H1_uc010sts.1_Missense_Mutation_p.R88C|ZFC3H1_uc001swp.2_Missense_Mutation_p.R88C|THAP2_uc001swq.2_5'Flank	1	1		possibly_damaging(0.689)	p.R88C	NM_144982	NP_659419		deleterious_low_confidence(0)	1	ZC3H1_HUMAN	ZFC3H1	HGNC	O60293	ZC3H1_HUMAN					1	621	-			UPI00003668E9	88			Ser-rich.		SNV	ZFC3H1,missense_variant,p.Arg88Cys,ENST00000378743,NM_144982.4;ZFC3H1,missense_variant,p.Arg88Cys,ENST00000548100,;ZFC3H1,missense_variant,p.Arg88Cys,ENST00000552037,;THAP2,5_prime_UTR_variant,,ENST00000308086,NM_031435.3;THAP2,upstream_gene_variant,,ENST00000547843,;THAP2,upstream_gene_variant,,ENST00000551488,;THAP2,upstream_gene_variant,,ENST00000551238,;ZFC3H1,non_coding_transcript_exon_variant,,ENST00000549407,;ZFC3H1,intron_variant,,ENST00000550712,;ZFC3H1,missense_variant,p.Arg88Cys,ENST00000552994,;	uc001swo.2	c.262C>T	621/7285	1	1			c.262C>T						12	SNP	c.(262-264)CGC>TGC	56	56			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Broad	proline/serine-rich coiled-coil 2			72057129		0.652	ENSG00000133858	17374	g.chr12:72057129G>A	RNA processing	intracellular	metal ion binding							236.112771	KEEP	50	39	-1	83	57	50	39	-1	238.343935	83	57	0.391705	1	0	0	0	0	1	0	0	0	--	--		0	A	OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ZFC3H1_uc010sts.1_Missense_Mutation_p.R88C|ZFC3H1_uc001swp.2_Missense_Mutation_p.R88C|THAP2_uc001swq.2_5'Flank	70	GBM-06-0750-TP	p.R88C	G	TGCCGCGAGCGTGAGAAATTC	NM_144982	NP_659419	72057129	O60293	ZC3H1_HUMAN	0			1	621	-	A	A			Missense_Mutation	88			Ser-rich.			
ZFC3H1	0	broad.mit.edu	GRCh37	12	72030416	72030416	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-12-3649-01	TCGA-12-3649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378743.3:c.1954G>C	p.Asp652His	p.D652H	ENST00000378743	NM_144982.4	652	Gac/Cac	0			1			G	D/H	uc001swo.2	protein_coding	YES	CCDS41813.1			1954/5970									ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	c.(1954-1956)GAC>CAC			hmmpanther:PTHR21563	proline/serine-rich coiled-coil 2				ENSP00000368017		Sep-35									COSM3399078	Sep-35	.		ENST00000378743	Transcript			RNA processing	intracellular	metal ion binding	ENSG00000133858	g.chr12:72030416C>G	28328			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=ZC3H1_HUMAN&rb=1&re=696&var=D652H	NA	getma.org/?cm=var&var=hg19,12,72030416,C,G&fts=all	D652H	--	--	1																																			1	1		benign(0.007)	p.D652H	NM_144982	NP_659419		tolerated(0.15)	1	ZC3H1_HUMAN	ZFC3H1	HGNC	O60293	ZC3H1_HUMAN					9	2313	-			UPI00003668E9	652					SNV	ZFC3H1,missense_variant,p.Asp652His,ENST00000378743,NM_144982.4;SNORA17,upstream_gene_variant,,ENST00000391159,;ZFC3H1,missense_variant,p.Asp652His,ENST00000552994,;ZFC3H1,upstream_gene_variant,,ENST00000546606,;	uc001swo.2	c.1954G>C	2313/7285	3	3			c.1954G>C						12	SNP	c.(1954-1956)GAC>CAC	53	53			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Broad	proline/serine-rich coiled-coil 2			72030416		0.363	ENSG00000133858	17374	g.chr12:72030416C>G	RNA processing	intracellular	metal ion binding							172.10934	KEEP	26	28	-1	55	49	26	28	-1	174.62678	55	49	0.357143	1	0	0	0	0	1	0	0	0	--	--		0	G				125	GBM-12-3649-TP	p.D652H	C	GAAGGTGGGTCACTATTACTG	NM_144982	NP_659419	72030416	O60293	ZC3H1_HUMAN	0			9	2313	-	G	G			Missense_Mutation	652						
ZFC3H1	0	broad.mit.edu	GRCh37	12	72025622	72025622	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-16-1045-01	TCGA-16-1045-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378743.3:c.3406A>G	p.Met1136Val	p.M1136V	ENST00000378743	NM_144982.4	1136	Atg/Gtg	0			1			C	M/V	uc001swo.2	protein_coding	YES	CCDS41813.1			3406/5970									ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	c.(3406-3408)ATG>GTG			hmmpanther:PTHR21563	proline/serine-rich coiled-coil 2				ENSP00000368017		16/35									COSM3399077	16/35	.		ENST00000378743	Transcript			RNA processing	intracellular	metal ion binding	ENSG00000133858	g.chr12:72025622T>C	28328			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=ZC3H1_HUMAN&rb=1097&re=1183&var=M1136V	NA	getma.org/?cm=var&var=hg19,12,72025622,T,C&fts=all	M1136V	--	--	1																																			1	1		benign(0)	p.M1136V	NM_144982	NP_659419		tolerated(0.32)	1	ZC3H1_HUMAN	ZFC3H1	HGNC	O60293	ZC3H1_HUMAN					16	3765	-			UPI00003668E9	1136					SNV	ZFC3H1,missense_variant,p.Met1136Val,ENST00000378743,NM_144982.4;ZFC3H1,missense_variant,p.Met1136Val,ENST00000552994,;ZFC3H1,downstream_gene_variant,,ENST00000546606,;	uc001swo.2	c.3406A>G	3765/7285	4	4			c.3406A>G						12	SNP	c.(3406-3408)ATG>GTG	47	47			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Broad	proline/serine-rich coiled-coil 2			72025622		0.358	ENSG00000133858	17374	g.chr12:72025622T>C	RNA processing	intracellular	metal ion binding							211.323972	KEEP	46	35	-1	83	90	46	35	-1	218.895074	83	90	0.300469	1	0	0	0	0	1	0	0	0	--	--		0	C				157	GBM-16-1045-TP	p.M1136V	T	TTCACTTCCATTGTTTTACTT	NM_144982	NP_659419	72025622	O60293	ZC3H1_HUMAN	0			16	3765	-	C	C			Missense_Mutation	1136						
ZFHX3	0	broad.mit.edu	GRCh37	16	72827367	72827367	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01	TCGA-27-2524-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268489.5:c.9214G>A	p.Val3072Ile	p.V3072I	ENST00000268489	NM_006885.3	3072	Gta/Ata	0	T:0		1			T	V/I	uc002fck.2	protein_coding	YES	CCDS10908.1			9214/11112									ovary(2)|skin(2)	4	c.(9214-9216)GTA>ATA			hmmpanther:PTHR24208:SF84,hmmpanther:PTHR24208	zinc finger homeobox 3 isoform A			T:0.0001	ENSP00000268489		10-Sep	8.24E-06					1.50E-05			rs368568803,COSM3402471	10-Sep	.		ENST00000268489	Transcript			muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	ENSG00000140836	g.chr16:72827367C>T	777			MODERATE		1.75	low	getma.org/?cm=msa&ty=f&p=ZFHX3_HUMAN&rb=3022&re=3701&var=V3072I	NA	getma.org/?cm=var&var=hg19,16,72827367,C,T&fts=all	V3072I	--	--	1																																		ZFHX3_uc002fcl.2_Missense_Mutation_p.V2158I	0,1	1		unknown(0)	p.V3072I	NM_006885	NP_008816			0,1	ZFHX3_HUMAN	ZFHX3	HGNC	Q15911	ZFHX3_HUMAN			Q6TCJ2_HUMAN		9	9887	-		Ovarian(137;0.13)	UPI00001AE937	3072					SNV	ZFHX3,missense_variant,p.Val3072Ile,ENST00000268489,NM_006885.3;ZFHX3,missense_variant,p.Val2158Ile,ENST00000397992,NM_001164766.1;RP5-991G20.4,downstream_gene_variant,,ENST00000569195,;	uc002fck.2	c.9214G>A	9887/16064	1	1			c.9214G>A						16	SNP	c.(9214-9216)GTA>ATA	3	3			ovary(2)|skin(2)	4	Broad	zinc finger homeobox 3 isoform A			72827367		0.488	ENSG00000140836	17375	g.chr16:72827367C>T	muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding							10.196108	KEEP	15	13	-1	134	145	15	13	-1	56.722566	134	145	0.088235	1	0	0	0	0	1	0	0	0	--	--		0	T			ZFHX3_uc002fcl.2_Missense_Mutation_p.V2158I	202	GBM-27-2524-TP	p.V3072I	C	AACTGACGTACGGTGGCTGGG	NM_006885	NP_008816	72827367	Q15911	ZFHX3_HUMAN	0			9	9887	-	T	T		Ovarian(137;0.13)	Missense_Mutation	3072						
ZFHX3	0	broad.mit.edu	GRCh37	16	72993903	72993903	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-1977-01	TCGA-32-1977-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268489.5:c.142G>T	p.Gly48Trp	p.G48W	ENST00000268489	NM_006885.3	48	Ggg/Tgg	0			1			A	G/W	uc002fck.2	protein_coding	YES	CCDS10908.1			142/11112									ovary(2)|skin(2)	4	c.(142-144)GGG>TGG				zinc finger homeobox 3 isoform A				ENSP00000268489		10-Feb									COSM3402473	10-Feb	.		ENST00000268489	Transcript			muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	ENSG00000140836	g.chr16:72993903C>A	777			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=ZFHX3_HUMAN&rb=1&re=78&var=G48W	NA	getma.org/?cm=var&var=hg19,16,72993903,C,A&fts=all	G48W	--	--	1																																		ZFHX3_uc002fcl.2_Intron	1	1		probably_damaging(0.972)	p.G48W	NM_006885	NP_008816			1	ZFHX3_HUMAN	ZFHX3	HGNC	Q15911	ZFHX3_HUMAN			Q6TCJ2_HUMAN		2	815	-		Ovarian(137;0.13)	UPI00001AE937	48					SNV	ZFHX3,missense_variant,p.Gly48Trp,ENST00000268489,NM_006885.3;ZFHX3,intron_variant,,ENST00000397992,NM_001164766.1;	uc002fck.2	c.142G>T	815/16064	2	2			c.142G>T						16	SNP	c.(142-144)GGG>TGG	44	44			ovary(2)|skin(2)	4	Broad	zinc finger homeobox 3 isoform A			72993903		0.667	ENSG00000140836	17375	g.chr16:72993903C>A	muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding							-24.84183	KEEP	2	1	0.333333333	72	69	2	1	0.333333333	6.303158	72	69	0.024194	1	0	0	0	0	1	0	0	0	--	--		0	A			ZFHX3_uc002fcl.2_Intron	229	GBM-32-1977-TP	p.G48W	C	TCCAAGGGCCCGTGGCTCTCG	NM_006885	NP_008816	72993903	Q15911	ZFHX3_HUMAN	0			2	815	-	A	A		Ovarian(137;0.13)	Missense_Mutation	48						
ZFHX4	0	broad.mit.edu	GRCh37	8	77766549	77766549	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6391-01	TCGA-06-6391-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521891.2:c.7392G>A	p.Ser2464=	p.S2464=	ENST00000521891	NM_024721.4	2464	tcG/tcA	0			1			A	S	uc003yav.2	protein_coding	YES	CCDS47878.2			7392/10851									ovary(8)|large_intestine(4)|breast(2)|lung(1)	15	c.(7255-7257)TCG>TCA			hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40	zinc finger homeodomain 4				ENSP00000430497		11-Oct	8.26E-06		0.000113						rs761611371,COSM118546	11-Oct	.		ENST00000521891	Transcript				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000091656	g.chr8:77766549G>A	30939			LOW								--	--	1				HNSCC(33;0.089)																														ZFHX4_uc003yau.1_Silent_p.S2464S|ZFHX4_uc003yaw.1_Silent_p.S2419S	0,1	1			p.S2419S	NM_024721	NP_078997			0,1		ZFHX4	HGNC	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN		10	7644	+			UPI0000424CC7	2419			Pro-rich.		SNV	ZFHX4,synonymous_variant,p.=,ENST00000521891,NM_024721.4;ZFHX4,synonymous_variant,p.=,ENST00000455469,;ZFHX4,synonymous_variant,p.=,ENST00000518282,;ZFHX4,synonymous_variant,p.=,ENST00000050961,;ZFHX4,downstream_gene_variant,,ENST00000523625,;ZFHX4,downstream_gene_variant,,ENST00000522409,;	uc003yav.2	c.7257G>A	7840/14019	2	2			c.7257G>A						8	SNP	c.(7255-7257)TCG>TCA	33	33			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15	Broad	zinc finger homeodomain 4			77766549		0.423	ENSG00000091656	17376	g.chr8:77766549G>A		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							20.487969	KEEP	7	1	-1	12	15	7	1	-1	22.848669	12	15	0.228571	1	0	0	0	0	0	0	1	0	--	--	HNSCC(33;0.089)	0	A			ZFHX4_uc003yau.1_Silent_p.S2464S|ZFHX4_uc003yaw.1_Silent_p.S2419S	107	GBM-06-6391-TP	p.S2419S	G	GACCTCCCTCGGCCTCTCAAA	NM_024721	NP_078997	77766549	Q86UP3	ZFHX4_HUMAN	0	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	7644	+	A	A			Silent	2419			Pro-rich.			
ZFHX4	0	broad.mit.edu	GRCh37	8	77617855	77617855	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6701-01	TCGA-06-6701-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521891.2:c.1532C>T	p.Ser511Leu	p.S511L	ENST00000521891	NM_024721.4	511	tCa/tTa	0			1			T	S/L	uc003yav.2	protein_coding	YES	CCDS47878.2			1532/10851									ovary(8)|large_intestine(4)|breast(2)|lung(1)	15	c.(1531-1533)TCA>TTA			hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40	zinc finger homeodomain 4				ENSP00000430497		11-Feb									COSM3413117,COSM3413118	11-Feb	.		ENST00000521891	Transcript				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000091656	g.chr8:77617855C>T	30939			MODERATE		0.625	neutral	getma.org/?cm=msa&ty=f&p=ZFHX4_HUMAN&rb=381&re=515&var=S511L	NA	getma.org/?cm=var&var=hg19,8,77617855,C,T&fts=all	S511L	--	--	1				HNSCC(33;0.089)																														ZFHX4_uc003yat.1_Missense_Mutation_p.S511L|ZFHX4_uc003yau.1_Missense_Mutation_p.S511L|ZFHX4_uc003yaw.1_Missense_Mutation_p.S511L	1,1	1		possibly_damaging(0.504)	p.S511L	NM_024721	NP_078997			1,1		ZFHX4	HGNC	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN		2	1919	+			UPI0000424CC7	511					SNV	ZFHX4,missense_variant,p.Ser511Leu,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Ser511Leu,ENST00000455469,;ZFHX4,missense_variant,p.Ser511Leu,ENST00000518282,;ZFHX4,missense_variant,p.Ser511Leu,ENST00000050961,;ZFHX4,downstream_gene_variant,,ENST00000520307,;ZFHX4,downstream_gene_variant,,ENST00000517585,;ZFHX4,downstream_gene_variant,,ENST00000523809,;ZFHX4,downstream_gene_variant,,ENST00000523885,;ZFHX4,intron_variant,,ENST00000517683,;ZFHX4,non_coding_transcript_exon_variant,,ENST00000458716,;	uc003yav.2	c.1532C>T	1980/14019	1	1			c.1532C>T						8	SNP	c.(1531-1533)TCA>TTA	9	9			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15	Broad	zinc finger homeodomain 4			77617855		0.413	ENSG00000091656	17376	g.chr8:77617855C>T		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							37.445131	KEEP	12	5	-1	32	28	12	5	-1	42.025607	32	28	0.236111	1	0	0	0	0	1	0	0	0	--	--	HNSCC(33;0.089)	0	T			ZFHX4_uc003yat.1_Missense_Mutation_p.S511L|ZFHX4_uc003yau.1_Missense_Mutation_p.S511L|ZFHX4_uc003yaw.1_Missense_Mutation_p.S511L	115	GBM-06-6701-TP	p.S511L	C	TCTCCTTTATCATCCAGTGTG	NM_024721	NP_078997	77617855	Q86UP3	ZFHX4_HUMAN	0	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	1919	+	T	T			Missense_Mutation	511						
ZFHX4	0	broad.mit.edu	GRCh37	8	77617897	77617897	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6701-01	TCGA-06-6701-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521891.2:c.1574C>T	p.Ser525Phe	p.S525F	ENST00000521891	NM_024721.4	525	tCc/tTc	0			1			T	S/F	uc003yav.2	protein_coding	YES	CCDS47878.2			1574/10851									ovary(8)|large_intestine(4)|breast(2)|lung(1)	15	c.(1573-1575)TCC>TTC			hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40,Low_complexity_(Seg):seg	zinc finger homeodomain 4				ENSP00000430497		11-Feb									COSM3413119,COSM3413120	11-Feb	.		ENST00000521891	Transcript				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000091656	g.chr8:77617897C>T	30939			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=ZFHX4_HUMAN&rb=516&re=698&var=S525F	NA	getma.org/?cm=var&var=hg19,8,77617897,C,T&fts=all	S525F	--	--	1				HNSCC(33;0.089)																														ZFHX4_uc003yat.1_Missense_Mutation_p.S525F|ZFHX4_uc003yau.1_Missense_Mutation_p.S525F|ZFHX4_uc003yaw.1_Missense_Mutation_p.S525F	1,1	1		possibly_damaging(0.683)	p.S525F	NM_024721	NP_078997			1,1		ZFHX4	HGNC	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN		2	1961	+			UPI0000424CC7	525			Poly-Ser.		SNV	ZFHX4,missense_variant,p.Ser525Phe,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Ser525Phe,ENST00000455469,;ZFHX4,missense_variant,p.Ser525Phe,ENST00000518282,;ZFHX4,missense_variant,p.Ser525Phe,ENST00000050961,;ZFHX4,downstream_gene_variant,,ENST00000520307,;ZFHX4,downstream_gene_variant,,ENST00000517585,;ZFHX4,downstream_gene_variant,,ENST00000523809,;ZFHX4,downstream_gene_variant,,ENST00000523885,;ZFHX4,intron_variant,,ENST00000517683,;ZFHX4,non_coding_transcript_exon_variant,,ENST00000458716,;	uc003yav.2	c.1574C>T	2022/14019	2	2			c.1574C>T						8	SNP	c.(1573-1575)TCC>TTC	43	43			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15	Broad	zinc finger homeodomain 4			77617897		0.433	ENSG00000091656	17376	g.chr8:77617897C>T		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							33.891516	KEEP	14	3	-1	25	31	14	3	-1	37.841758	25	31	0.238095	1	0	0	0	0	1	0	0	0	--	--	HNSCC(33;0.089)	0	T			ZFHX4_uc003yat.1_Missense_Mutation_p.S525F|ZFHX4_uc003yau.1_Missense_Mutation_p.S525F|ZFHX4_uc003yaw.1_Missense_Mutation_p.S525F	115	GBM-06-6701-TP	p.S525F	C	ACCTCGTCCTCCTCGGCGACT	NM_024721	NP_078997	77617897	Q86UP3	ZFHX4_HUMAN	0	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	1961	+	T	T			Missense_Mutation	525			Poly-Ser.			
ZFHX4	0	broad.mit.edu	GRCh37	8	77763369	77763369	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-14-1823-01	TCGA-14-1823-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521891.2:c.4212G>C	p.Leu1404Phe	p.L1404F	ENST00000521891	NM_024721.4	1404	ttG/ttC	0			1			C	L/F	uc003yav.2	protein_coding	YES	CCDS47878.2			4212/10851									ovary(8)|large_intestine(4)|breast(2)|lung(1)	15	c.(4075-4077)TTG>TTC			PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger homeodomain 4				ENSP00000430497		11-Oct									COSM3413121,COSM3413122	11-Oct	.		ENST00000521891	Transcript				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000091656	g.chr8:77763369G>C	30939			MODERATE		2.605	medium	getma.org/?cm=msa&ty=f&p=ZFHX4_HUMAN&rb=1196&re=1380&var=L1359F	NA	getma.org/?cm=var&var=hg19,8,77763369,G,C&fts=all	L1359F	--	--	1				HNSCC(33;0.089)																														ZFHX4_uc003yau.1_Missense_Mutation_p.L1404F|ZFHX4_uc003yaw.1_Missense_Mutation_p.L1359F	1,1	1		possibly_damaging(0.765)	p.L1359F	NM_024721	NP_078997			1,1		ZFHX4	HGNC	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN		10	4464	+			UPI0000424CC7	1359			C2H2-type 10.		SNV	ZFHX4,missense_variant,p.Leu1404Phe,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Leu1359Phe,ENST00000455469,;ZFHX4,missense_variant,p.Leu1378Phe,ENST00000518282,;ZFHX4,missense_variant,p.Leu1359Phe,ENST00000050961,;ZFHX4,downstream_gene_variant,,ENST00000523625,;ZFHX4,downstream_gene_variant,,ENST00000522409,;ZFHX4,downstream_gene_variant,,ENST00000519536,;	uc003yav.2	c.4077G>C	4660/14019	4	4			c.4077G>C						8	SNP	c.(4075-4077)TTG>TTC	43	43			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15	Broad	zinc finger homeodomain 4			77763369		0.453	ENSG00000091656	17376	g.chr8:77763369G>C		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							19.342469	KEEP	4	5	-1	29	15	4	5	-1	24.374704	29	15	0.176471	1	0	0	0	0	1	0	0	0	--	--	HNSCC(33;0.089)	0	C			ZFHX4_uc003yau.1_Missense_Mutation_p.L1404F|ZFHX4_uc003yaw.1_Missense_Mutation_p.L1359F	147	GBM-14-1823-TP	p.L1359F	G	ATTGTAGCTTGGCTTTCAAAA	NM_024721	NP_078997	77763369	Q86UP3	ZFHX4_HUMAN	0	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	4464	+	C	C			Missense_Mutation	1359			C2H2-type 10.			
ZFHX4	0	broad.mit.edu	GRCh37	8	77617628	77617628	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01	TCGA-41-4097-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521891.2:c.1305G>A	p.Met435Ile	p.M435I	ENST00000521891	NM_024721.4	435	atG/atA	0		A:0	1	A:0		A	M/I	uc003yav.2	protein_coding	YES	CCDS47878.2			1305/10851									ovary(8)|large_intestine(4)|breast(2)|lung(1)	15	c.(1303-1305)ATG>ATA			hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40,Low_complexity_(Seg):seg	zinc finger homeodomain 4		A:0		ENSP00000430497	A:0.001	11-Feb	8.27E-06					1.51E-05			rs529333807,COSM3413115,COSM3413116	11-Feb	.		ENST00000521891	Transcript		A:0.0002		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000091656	g.chr8:77617628G>A	30939			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=ZFHX4_HUMAN&rb=381&re=515&var=M435I	NA	getma.org/?cm=var&var=hg19,8,77617628,G,A&fts=all	M435I	--	--	1				HNSCC(33;0.089)																														ZFHX4_uc003yat.1_Missense_Mutation_p.M435I|ZFHX4_uc003yau.1_Missense_Mutation_p.M435I|ZFHX4_uc003yaw.1_Missense_Mutation_p.M435I	0,1,1	1		benign(0.043)	p.M435I	NM_024721	NP_078997	A:0		0,1,1		ZFHX4	HGNC	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN		2	1692	+			UPI0000424CC7	435					SNV	ZFHX4,missense_variant,p.Met435Ile,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Met435Ile,ENST00000455469,;ZFHX4,missense_variant,p.Met435Ile,ENST00000518282,;ZFHX4,missense_variant,p.Met435Ile,ENST00000050961,;ZFHX4,downstream_gene_variant,,ENST00000520307,;ZFHX4,downstream_gene_variant,,ENST00000517585,;ZFHX4,downstream_gene_variant,,ENST00000523809,;ZFHX4,downstream_gene_variant,,ENST00000523885,;ZFHX4,intron_variant,,ENST00000517683,;ZFHX4,non_coding_transcript_exon_variant,,ENST00000458716,;	uc003yav.2	c.1305G>A	1753/14019	1	1			c.1305G>A						8	SNP	c.(1303-1305)ATG>ATA	52	52			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15	Broad	zinc finger homeodomain 4			77617628		0.488	ENSG00000091656	17376	g.chr8:77617628G>A		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							11.624603	KEEP	2	5	-1	16	20	2	5	-1	15.641697	16	20	0.162162	1	0	0	0	0	1	0	0	0	--	--	HNSCC(33;0.089)	0	A			ZFHX4_uc003yat.1_Missense_Mutation_p.M435I|ZFHX4_uc003yau.1_Missense_Mutation_p.M435I|ZFHX4_uc003yaw.1_Missense_Mutation_p.M435I	257	GBM-41-4097-TP	p.M435I	G	CTAGCAAGATGTCAGAGAGCA	NM_024721	NP_078997	77617628	Q86UP3	ZFHX4_HUMAN	0	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	1692	+	A	A			Missense_Mutation	435						
ZFHX4	0	broad.mit.edu	GRCh37	8	77768255	77768255	+	stop_gained	Nonsense_Mutation	SNP	C	C	G			TCGA-76-4935-01	TCGA-76-4935-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000521891.2:c.9098C>G	p.Ser3033Ter	p.S3033*	ENST00000521891	NM_024721.4	3033	tCa/tGa	0			1			G	S/*	uc003yav.2	protein_coding	YES	CCDS47878.2			9098/10851									ovary(8)|large_intestine(4)|breast(2)|lung(1)	15	c.(8962-8964)TCA>TGA			hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40,SMART_domains:SM00451,Superfamily_domains:SSF57667	zinc finger homeodomain 4				ENSP00000430497		11-Oct									COSM3413123,COSM3413124	11-Oct	.		ENST00000521891	Transcript				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000091656	g.chr8:77768255C>G	30939			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,8,77768255,C,G&fts=all	S2988*	--	--	1				HNSCC(33;0.089)																														ZFHX4_uc003yau.1_Nonsense_Mutation_p.S3033*|ZFHX4_uc003yaw.1_Nonsense_Mutation_p.S2988*	1,1	1			p.S2988*	NM_024721	NP_078997			1,1		ZFHX4	HGNC	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN		10	9350	+			UPI0000424CC7	2988					SNV	ZFHX4,stop_gained,p.Ser3033Ter,ENST00000521891,NM_024721.4;ZFHX4,stop_gained,p.Ser2988Ter,ENST00000455469,;ZFHX4,stop_gained,p.Ser3007Ter,ENST00000518282,;ZFHX4,stop_gained,p.Ser2988Ter,ENST00000050961,;	uc003yav.2	c.8963C>G	9546/14019	5	3			c.8963C>G						8	SNP	c.(8962-8964)TCA>TGA	1	1			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15	Broad	zinc finger homeodomain 4			77768255		0.537	ENSG00000091656	17376	g.chr8:77768255C>G		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							171.335442	KEEP	28	20	-1	28	37	28	20	-1	171.913362	28	37	0.422018	1	0	0	0	0	0	1	0	0	--	--	HNSCC(33;0.089)	0	G			ZFHX4_uc003yau.1_Nonsense_Mutation_p.S3033*|ZFHX4_uc003yaw.1_Nonsense_Mutation_p.S2988*	273	GBM-76-4935-TP	p.S2988*	C	CAGCACATTTCAAAAGTGAGG	NM_024721	NP_078997	77768255	Q86UP3	ZFHX4_HUMAN	0	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	9350	+	G	G			Nonsense_Mutation	2988						
ZFP28	0	broad.mit.edu	GRCh37	19	57060380	57060380	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs142184982		TCGA-28-2513-01	TCGA-28-2513-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301318.3:c.577G>A	p.Glu193Lys	p.E193K	ENST00000301318	NM_020828.1	193	Gaa/Aaa	0	A:0		1			A	E/K	uc002qnj.2	protein_coding	YES	CCDS12946.1			577/2607									ovary(1)	1	c.(577-579)GAA>AAA			hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF285	zinc finger protein 28			A:0.0003	ENSP00000301318		8-May	0.00014		0.00026	0.000116		0.000135		0.000243	rs142184982,COSM3404682	8-May	.		ENST00000301318	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000196867	g.chr19:57060380G>A	17801			MODERATE		0.265	neutral	getma.org/?cm=msa&ty=f&p=ZFP28_HUMAN&rb=144&re=231&var=E193K	NA	getma.org/?cm=var&var=hg19,19,57060380,G,A&fts=all	E193K	--	--	1																																		ZFP28_uc002qni.2_Missense_Mutation_p.E193K|uc002qnk.1_Intron	0,1	1		benign(0.02)	p.E193K	NM_020828	NP_065879		tolerated(0.07)	0,1	ZFP28_HUMAN	ZFP28	HGNC	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	Q68CX9_HUMAN		5	648	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	UPI000006D90E	193					SNV	ZFP28,missense_variant,p.Glu193Lys,ENST00000301318,NM_020828.1;ZFP28,missense_variant,p.Glu193Lys,ENST00000591844,;AC007228.11,intron_variant,,ENST00000596587,;ZFP28,downstream_gene_variant,,ENST00000594386,;ZFP28,upstream_gene_variant,,ENST00000588163,;ZFP28,downstream_gene_variant,,ENST00000589836,;	uc002qnj.2	c.577G>A	648/4086	1	1			c.577G>A						19	SNP	c.(577-579)GAA>AAA	56	56			ovary(1)	1	Broad	zinc finger protein 28			57060380		0.413	ENSG00000196867	17383	g.chr19:57060380G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	Ovarian(124;554 1662 19430 21141 52494)			Ovarian(124;554 1662 19430 21141 52494)			19.471135	KEEP	8	6	-1	36	37	8	6	-1	29.404414	36	37	0.139241	1	0	0	0	0	1	0	0	0	--	--		0	A			ZFP28_uc002qni.2_Missense_Mutation_p.E193K|uc002qnk.1_Intron	213	GBM-28-2513-TP	p.E193K	G	GGACTTCTGCGAAGGAAAGCT	NM_020828	NP_065879	57060380	Q8NHY6	ZFP28_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0302)	5	648	+	A	A		Colorectal(82;0.000256)|Ovarian(87;0.243)	Missense_Mutation	193						
ZFP28	0	broad.mit.edu	GRCh37	19	57066095	57066095	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-32-2634-01	TCGA-32-2634-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301318.3:c.1941T>G	p.Cys647Trp	p.C647W	ENST00000301318	NM_020828.1	647	tgT/tgG	0			1			G	C/W	uc002qnj.2	protein_coding	YES	CCDS12946.1			1941/2607									ovary(1)	1	c.(1939-1941)TGT>TGG			PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF285,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 28				ENSP00000301318		8-Aug									COSM3748074	8-Aug	.		ENST00000301318	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000196867	g.chr19:57066095T>G	17801			MODERATE		4.31	high	getma.org/?cm=msa&ty=f&p=ZFP28_HUMAN&rb=611&re=676&var=C647W	getma.org/pdb.php?prot=ZFP28_HUMAN&from=631&to=656&var=C647W	getma.org/?cm=var&var=hg19,19,57066095,T,G&fts=all	C647W	--	--	1																																		uc002qnk.1_Intron	1	1		probably_damaging(1)	p.C647W	NM_020828	NP_065879		deleterious(0.01)	1	ZFP28_HUMAN	ZFP28	HGNC	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	Q68CX9_HUMAN		8	2012	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	UPI000006D90E	647			C2H2-type 9.		SNV	ZFP28,missense_variant,p.Cys647Trp,ENST00000301318,NM_020828.1;ZFP28,downstream_gene_variant,,ENST00000591844,;AC007228.11,intron_variant,,ENST00000596587,;ZFP28,downstream_gene_variant,,ENST00000588163,;	uc002qnj.2	c.1941T>G	2012/4086	3	3			c.1941T>G						19	SNP	c.(1939-1941)TGT>TGG	53	53			ovary(1)	1	Broad	zinc finger protein 28			57066095		0.458	ENSG00000196867	17383	g.chr19:57066095T>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	Ovarian(124;554 1662 19430 21141 52494)			Ovarian(124;554 1662 19430 21141 52494)			172.56519	KEEP	28	21	-1	31	33	28	21	-1	172.945351	31	33	0.4375	1	0	0	0	0	1	0	0	0	--	--		0	G			uc002qnk.1_Intron	241	GBM-32-2634-TP	p.C647W	T	CCTATGAATGTAAGGTTTGTA	NM_020828	NP_065879	57066095	Q8NHY6	ZFP28_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0302)	8	2012	+	G	G		Colorectal(82;0.000256)|Ovarian(87;0.243)	Missense_Mutation	647			C2H2-type 9.			
ZFP30	22835	broad.mit.edu	GRCh37	19	38126468	38126468	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01	TCGA-06-0645-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000351218.2:c.974C>T	p.Pro325Leu	p.P325L	ENST00000351218	NM_014898.2	325	cCc/cTc	0			1			A	P/L	uc002ogv.1	protein_coding	YES	CCDS33005.1			974/1560										0	c.(973-975)CCC>CTC			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF246,Superfamily_domains:SSF57667	zinc finger protein 30 homolog				ENSP00000343581		6-Jun									COSM2151267	6-Jun	.		ENST00000351218	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000120784	g.chr19:38126468G>A	29555			MODERATE		1.24	low	getma.org/?cm=msa&ty=f&p=ZFP30_HUMAN&rb=292&re=356&var=P325L	getma.org/pdb.php?prot=ZFP30_HUMAN&from=312&to=336&var=P325L	getma.org/?cm=var&var=hg19,19,38126468,G,A&fts=all	P325L	--	--	1																																		ZFP30_uc002ogw.1_Missense_Mutation_p.P325L|ZFP30_uc002ogx.1_Missense_Mutation_p.P325L|ZFP30_uc010xtt.1_Missense_Mutation_p.P324L	1	1		probably_damaging(1)	p.P325L	NM_014898	NP_055713		deleterious(0.02)	1	ZFP30_HUMAN	ZFP30	HGNC	Q9Y2G7	ZFP30_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		K7EK76_HUMAN,D3Y2A0_HUMAN		6	1490	-			UPI0000139E7F	325					SNV	ZFP30,missense_variant,p.Pro325Leu,ENST00000351218,NM_014898.2;ZFP30,missense_variant,p.Pro325Leu,ENST00000514101,;ZFP30,missense_variant,p.Pro325Leu,ENST00000392144,;ZFP30,intron_variant,,ENST00000589018,;ZFP30,downstream_gene_variant,,ENST00000587809,;	uc002ogv.1	c.974C>T	1532/6090	2	2			c.974C>T						19	SNP	c.(973-975)CCC>CTC	30	30				0	Broad	zinc finger protein 30 homolog			38126468		0.438	ENSG00000120784	17385	g.chr19:38126468G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							80.785103	KEEP	18	19	-1	69	61	18	19	-1	92.987123	69	61	0.210191	1	0	0	0	0	1	0	0	0	--	--		0	A			ZFP30_uc002ogw.1_Missense_Mutation_p.P325L|ZFP30_uc002ogx.1_Missense_Mutation_p.P325L|ZFP30_uc010xtt.1_Missense_Mutation_p.P324L	59	GBM-06-0645-TP	p.P325L	G	ACATTCATAGGGTTTTTCTCC	NM_014898	NP_055713	38126468	Q9Y2G7	ZFP30_HUMAN	0	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1490	-	A	A			Missense_Mutation	325						
ZFP30	0	broad.mit.edu	GRCh37	19	38127033	38127033	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01	TCGA-32-4210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000351218.2:c.409C>T	p.Pro137Ser	p.P137S	ENST00000351218	NM_014898.2	137	Cct/Tct	0			1			A	P/S	uc002ogv.1	protein_coding	YES	CCDS33005.1			409/1560										0	c.(409-411)CCT>TCT			hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF246	zinc finger protein 30 homolog				ENSP00000343581		6-Jun									COSM3404172	6-Jun	.		ENST00000351218	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000120784	g.chr19:38127033G>A	29555			MODERATE		0.64	neutral	getma.org/?cm=msa&ty=f&p=ZFP30_HUMAN&rb=47&re=171&var=P137S	NA	getma.org/?cm=var&var=hg19,19,38127033,G,A&fts=all	P137S	--	--	1																																		ZFP30_uc002ogw.1_Missense_Mutation_p.P137S|ZFP30_uc002ogx.1_Missense_Mutation_p.P137S|ZFP30_uc010xtt.1_Missense_Mutation_p.P136S	1	1		benign(0.022)	p.P137S	NM_014898	NP_055713		tolerated(0.31)	1	ZFP30_HUMAN	ZFP30	HGNC	Q9Y2G7	ZFP30_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		K7EK76_HUMAN,D3Y2A0_HUMAN		6	925	-			UPI0000139E7F	137					SNV	ZFP30,missense_variant,p.Pro137Ser,ENST00000351218,NM_014898.2;ZFP30,missense_variant,p.Pro137Ser,ENST00000514101,;ZFP30,missense_variant,p.Pro137Ser,ENST00000392144,;ZFP30,intron_variant,,ENST00000589018,;ZFP30,downstream_gene_variant,,ENST00000587809,;	uc002ogv.1	c.409C>T	967/6090	1	1			c.409C>T						19	SNP	c.(409-411)CCT>TCT	51	51				0	Broad	zinc finger protein 30 homolog			38127033		0.408	ENSG00000120784	17385	g.chr19:38127033G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-48.54296	KEEP	3	2	-1	101	135	3	2	-1	9.656131	101	135	0.02193	1	0	0	0	0	1	0	0	0	--	--		0	A			ZFP30_uc002ogw.1_Missense_Mutation_p.P137S|ZFP30_uc002ogx.1_Missense_Mutation_p.P137S|ZFP30_uc010xtt.1_Missense_Mutation_p.P136S	245	GBM-32-4210-TP	p.P137S	G	CTGTAAGTAGGCATTTTTTCA	NM_014898	NP_055713	38127033	Q9Y2G7	ZFP30_HUMAN	0	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	925	-	A	A			Missense_Mutation	137						
ZFP42	0	broad.mit.edu	GRCh37	4	188924445	188924445	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-28-1753-01	TCGA-28-1753-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326866.4:c.484C>G	p.Leu162Val	p.L162V	ENST00000326866	NM_174900.3	162	Cta/Gta	0			1			G	L/V	uc003izg.1	protein_coding	YES	CCDS3849.1			484/933									ovary(1)|skin(1)	2	c.(484-486)CTA>GTA			Low_complexity_(Seg):seg,hmmpanther:PTHR14003:SF8,hmmpanther:PTHR14003	zinc finger protein 42				ENSP00000317686		4-Apr									COSM3409211	4-Apr	.		ENST00000326866	Transcript			female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000179059	g.chr4:188924445C>G	30949			MODERATE		1.3	low	getma.org/?cm=msa&ty=f&p=ZFP42_HUMAN&rb=1&re=168&var=L162V	NA	getma.org/?cm=var&var=hg19,4,188924445,C,G&fts=all	L162V	--	--	1																																		ZFP42_uc003izh.1_Missense_Mutation_p.L162V|ZFP42_uc003izi.1_Missense_Mutation_p.L162V	1	1		benign(0.018)	p.L162V	NM_174900	NP_777560		deleterious(0.04)	1	ZFP42_HUMAN	ZFP42	HGNC	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)			3	729	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	UPI0000049CA7	162					SNV	ZFP42,missense_variant,p.Leu162Val,ENST00000326866,NM_174900.3;ZFP42,missense_variant,p.Leu162Val,ENST00000509524,;	uc003izg.1	c.484C>G	892/2651	4	4			c.484C>G						4	SNP	c.(484-486)CTA>GTA	17	17			ovary(1)|skin(1)	2	Broad	zinc finger protein 42			188924445		0.453	ENSG00000179059	17391	g.chr4:188924445C>G	female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							206.180987	KEEP	40	49	-1	120	156	40	49	-1	224.984718	120	156	0.245283	1	0	0	0	0	1	0	0	0	--	--		0	G			ZFP42_uc003izh.1_Missense_Mutation_p.L162V|ZFP42_uc003izi.1_Missense_Mutation_p.L162V	207	GBM-28-1753-TP	p.L162V	C	TGGCATTGACCTATCAGATCC	NM_174900	NP_777560	188924445	Q96MM3	ZFP42_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	3	729	+	G	G		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	Missense_Mutation	162						
ZFP42	0	broad.mit.edu	GRCh37	4	188924074	188924074	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01	TCGA-32-1982-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326866.4:c.113C>T	p.Ala38Val	p.A38V	ENST00000326866	NM_174900.3	38	gCg/gTg	0		T:0	1	T:0		T	A/V	uc003izg.1	protein_coding	YES	CCDS3849.1			113/933									ovary(1)|skin(1)	2	c.(112-114)GCG>GTG			hmmpanther:PTHR14003:SF8,hmmpanther:PTHR14003	zinc finger protein 42		T:0		ENSP00000317686	T:0.001	4-Apr	8.24E-06					1.50E-05			rs535489031,COSM3131947	4-Apr	.		ENST00000326866	Transcript		T:0.0002	female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000179059	g.chr4:188924074C>T	30949			MODERATE		1.1	low	getma.org/?cm=msa&ty=f&p=ZFP42_HUMAN&rb=1&re=168&var=A38V	NA	getma.org/?cm=var&var=hg19,4,188924074,C,T&fts=all	A38V	--	--	1																																		ZFP42_uc003izh.1_Missense_Mutation_p.A38V|ZFP42_uc003izi.1_Missense_Mutation_p.A38V	0,1	1		benign(0.032)	p.A38V	NM_174900	NP_777560	T:0	tolerated(0.07)	0,1	ZFP42_HUMAN	ZFP42	HGNC	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)			3	358	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	UPI0000049CA7	38					SNV	ZFP42,missense_variant,p.Ala38Val,ENST00000326866,NM_174900.3;ZFP42,missense_variant,p.Ala38Val,ENST00000509524,;	uc003izg.1	c.113C>T	521/2651	2	2			c.113C>T						4	SNP	c.(112-114)GCG>GTG	31	31			ovary(1)|skin(1)	2	Broad	zinc finger protein 42			188924074		0.572	ENSG00000179059	17391	g.chr4:188924074C>T	female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							72.908025	KEEP	13	23	-1	58	42	13	23	-1	79.715771	58	42	0.25	1	0	0	0	0	1	0	0	0	--	--		0	T			ZFP42_uc003izh.1_Missense_Mutation_p.A38V|ZFP42_uc003izi.1_Missense_Mutation_p.A38V	232	GBM-32-1982-TP	p.A38V	C	GACCTGCAGGCGGAAATAGAA	NM_174900	NP_777560	188924074	Q96MM3	ZFP42_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	3	358	+	T	T		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	Missense_Mutation	38						
ZFP57	346171	broad.mit.edu	GRCh37	6	29640903	29640903	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0221-01	TCGA-06-0221-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000488757.1:c.985T>C	p.Ser329Pro	p.S329P	ENST00000488757	NM_001109809.2	329	Tcc/Ccc	0			1			G	S/P	uc011dlw.1	protein_coding					925/1551									ovary(3)|skin(2)	5	c.(985-987)TCC>CCC			hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF179	zinc finger protein 57 homolog				ENSP00000366078		5-May									COSM2151022	5-May	.		ENST00000376881	Transcript	1		DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	ENSG00000204644	g.chr6:29640903A>G	18791			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=H7C0F6_HUMAN&rb=1&re=200&var=S4P	NA	getma.org/?cm=var&var=hg19,6,29640903,A,G&fts=all	S4P	--	--	1																																		ZFP57_uc003nnl.3_Missense_Mutation_p.S309P	1			benign(0.361)	p.S329P	NM_001109809	NP_001103279		deleterious(0.01)	1	ZFP57_HUMAN	ZFP57	HGNC	Q9NU63	ZFP57_HUMAN					4	1136	-			UPI000066DA18	245					SNV	ZFP57,missense_variant,p.Ser309Pro,ENST00000376883,;ZFP57,missense_variant,p.Ser329Pro,ENST00000488757,NM_001109809.2;ZFP57,missense_variant,p.Ser309Pro,ENST00000376881,;MOG,downstream_gene_variant,,ENST00000376894,;MOG,downstream_gene_variant,,ENST00000376902,;MOG,downstream_gene_variant,,ENST00000376917,NM_002433.4,NM_206809.3;MOG,downstream_gene_variant,,ENST00000533330,;MOG,downstream_gene_variant,,ENST00000431798,NM_206812.3,NM_206810.3;MOG,downstream_gene_variant,,ENST00000376888,NM_206814.5;MOG,downstream_gene_variant,,ENST00000376898,;MOG,downstream_gene_variant,,ENST00000494692,NM_206811.3,NM_001008228.2;MOG,downstream_gene_variant,,ENST00000396701,;MOG,downstream_gene_variant,,ENST00000376891,NM_001008229.2;MOG,downstream_gene_variant,,ENST00000396704,;MOG,downstream_gene_variant,,ENST00000416766,;MOG,downstream_gene_variant,,ENST00000490427,NM_001170418.1;MOG,downstream_gene_variant,,ENST00000483013,;MOG,downstream_gene_variant,,ENST00000376889,;MOG,downstream_gene_variant,,ENST00000485211,;MOG,downstream_gene_variant,,ENST00000485885,;	uc011dlw.1	c.985T>C	925/1659	4	4			c.985T>C						6	SNP	c.(985-987)TCC>CCC	32	32			ovary(3)|skin(2)	5	Broad	zinc finger protein 57 homolog			29640903		0.562	ENSG00000204644	17392	g.chr6:29640903A>G	DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding							195.107736	KEEP	43	24	-1	59	64	43	24	-1	198.160266	59	64	0.358382	1	0	0	0	0	1	0	0	0	--	--		0	G			ZFP57_uc003nnl.3_Missense_Mutation_p.S309P	53	GBM-06-0221-TP	p.S329P	A	GGTTCCTGGGACCTGGCCACT	NM_001109809	NP_001103279	29640903	Q9NU63	ZFP57_HUMAN	0			4	1136	-	G	G			Missense_Mutation	245						
ZFP57	0	broad.mit.edu	GRCh37	6	29641134	29641134	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01	TCGA-26-5132-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376881.3:c.694G>A	p.Val232Ile	p.V232I	ENST00000376881		232	Gtc/Atc	0			1			T	V/I	uc011dlw.1	protein_coding					694/1551									ovary(3)|skin(2)	5	c.(754-756)GTC>ATC			Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF179,PROSITE_profiles:PS50157	zinc finger protein 57 homolog				ENSP00000366078		5-May	2.57E-05			0.000353					rs762393813,COSM3410887	5-May	.		ENST00000376881	Transcript	1		DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	ENSG00000204644	g.chr6:29641134C>T	18791			MODERATE		0.505	neutral	getma.org/?cm=msa&ty=f&p=B7ZW61_HUMAN&rb=211&re=288&var=V252I	getma.org/pdb.php?prot=B7ZW61_HUMAN&from=241&to=258&var=V252I	getma.org/?cm=var&var=hg19,6,29641134,C,T&fts=all	V252I	--	--	1																																		ZFP57_uc003nnl.3_Missense_Mutation_p.V232I	0,1			possibly_damaging(0.89)	p.V252I	NM_001109809	NP_001103279		deleterious(0.02)	0,1	ZFP57_HUMAN	ZFP57	HGNC	Q9NU63	ZFP57_HUMAN					4	905	-			UPI000066DA18	168			C2H2-type 3.		SNV	ZFP57,missense_variant,p.Val232Ile,ENST00000376883,;ZFP57,missense_variant,p.Val252Ile,ENST00000488757,NM_001109809.2;ZFP57,missense_variant,p.Val232Ile,ENST00000376881,;MOG,downstream_gene_variant,,ENST00000376894,;MOG,downstream_gene_variant,,ENST00000376902,;MOG,downstream_gene_variant,,ENST00000376917,NM_002433.4,NM_206809.3;MOG,downstream_gene_variant,,ENST00000533330,;MOG,downstream_gene_variant,,ENST00000431798,NM_206812.3,NM_206810.3;MOG,downstream_gene_variant,,ENST00000376888,NM_206814.5;MOG,downstream_gene_variant,,ENST00000376898,;MOG,downstream_gene_variant,,ENST00000494692,NM_206811.3,NM_001008228.2;MOG,downstream_gene_variant,,ENST00000396701,;MOG,downstream_gene_variant,,ENST00000376891,NM_001008229.2;MOG,downstream_gene_variant,,ENST00000396704,;MOG,downstream_gene_variant,,ENST00000416766,;MOG,downstream_gene_variant,,ENST00000490427,NM_001170418.1;MOG,downstream_gene_variant,,ENST00000483013,;MOG,downstream_gene_variant,,ENST00000376889,;MOG,downstream_gene_variant,,ENST00000485211,;MOG,downstream_gene_variant,,ENST00000485885,;	uc011dlw.1	c.754G>A	694/1659	1	1			c.754G>A						6	SNP	c.(754-756)GTC>ATC	2	2			ovary(3)|skin(2)	5	Broad	zinc finger protein 57 homolog			29641134		0.557	ENSG00000204644	17392	g.chr6:29641134C>T	DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding							-21.942019	KEEP	9	4	-1	85	132	9	4	-1	22.524882	85	132	0.052381	1	0	0	0	0	1	0	0	0	--	--		0	T			ZFP57_uc003nnl.3_Missense_Mutation_p.V232I	181	GBM-26-5132-TP	p.V252I	C	CCCAGATGGACGCGGCGGTGA	NM_001109809	NP_001103279	29641134	Q9NU63	ZFP57_HUMAN	0			4	905	-	T	T			Missense_Mutation	168			C2H2-type 3.			
ZFP57	0	broad.mit.edu	GRCh37	6	29641071	29641071	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-4925-01	TCGA-76-4925-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376881.3:c.757G>C	p.Glu253Gln	p.E253Q	ENST00000376881		253	Gag/Cag	0			1			G	E/Q	uc011dlw.1	protein_coding					757/1551									ovary(3)|skin(2)	5	c.(817-819)GAG>CAG			SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF179,PROSITE_profiles:PS50157	zinc finger protein 57 homolog				ENSP00000366078		5-May									COSM2157466	5-May	.		ENST00000376881	Transcript	1		DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	ENSG00000204644	g.chr6:29641071C>G	18791			MODERATE		0.07	neutral	getma.org/?cm=msa&ty=f&p=B7ZW61_HUMAN&rb=239&re=301&var=E273Q	getma.org/pdb.php?prot=B7ZW61_HUMAN&from=259&to=281&var=E273Q	getma.org/?cm=var&var=hg19,6,29641071,C,G&fts=all	E273Q	--	--	1																																		ZFP57_uc003nnl.3_Missense_Mutation_p.E253Q	1			probably_damaging(0.999)	p.E273Q	NM_001109809	NP_001103279		deleterious(0)	1	ZFP57_HUMAN	ZFP57	HGNC	Q9NU63	ZFP57_HUMAN					4	968	-			UPI000066DA18	189			C2H2-type 4.		SNV	ZFP57,missense_variant,p.Glu253Gln,ENST00000376883,;ZFP57,missense_variant,p.Glu273Gln,ENST00000488757,NM_001109809.2;ZFP57,missense_variant,p.Glu253Gln,ENST00000376881,;MOG,downstream_gene_variant,,ENST00000376894,;MOG,downstream_gene_variant,,ENST00000376902,;MOG,downstream_gene_variant,,ENST00000376917,NM_002433.4,NM_206809.3;MOG,downstream_gene_variant,,ENST00000533330,;MOG,downstream_gene_variant,,ENST00000431798,NM_206812.3,NM_206810.3;MOG,downstream_gene_variant,,ENST00000376888,NM_206814.5;MOG,downstream_gene_variant,,ENST00000376898,;MOG,downstream_gene_variant,,ENST00000494692,NM_206811.3,NM_001008228.2;MOG,downstream_gene_variant,,ENST00000396701,;MOG,downstream_gene_variant,,ENST00000376891,NM_001008229.2;MOG,downstream_gene_variant,,ENST00000396704,;MOG,downstream_gene_variant,,ENST00000416766,;MOG,downstream_gene_variant,,ENST00000490427,NM_001170418.1;MOG,downstream_gene_variant,,ENST00000483013,;MOG,downstream_gene_variant,,ENST00000376889,;MOG,downstream_gene_variant,,ENST00000485211,;MOG,downstream_gene_variant,,ENST00000485885,;	uc011dlw.1	c.817G>C	757/1659	3	3			c.817G>C						6	SNP	c.(817-819)GAG>CAG	4	4			ovary(3)|skin(2)	5	Broad	zinc finger protein 57 homolog			29641071		0.552	ENSG00000204644	17392	g.chr6:29641071C>G	DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding							277.172328	KEEP	35	57	-1	64	63	35	57	-1	278.56274	64	63	0.409326	1	0	0	0	0	1	0	0	0	--	--		0	G			ZFP57_uc003nnl.3_Missense_Mutation_p.E253Q	265	GBM-76-4925-TP	p.E273Q	C	CGTTTGAGCTCAGACTGGTCC	NM_001109809	NP_001103279	29641071	Q9NU63	ZFP57_HUMAN	0			4	968	-	G	G			Missense_Mutation	189			C2H2-type 4.			
ZFP64	0	broad.mit.edu	GRCh37	20	50803594	50803594	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-1833-01	TCGA-27-1833-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216923.4:c.63G>A	p.Thr21=	p.T21=	ENST00000216923	NM_199426.1	21	acG/acA	0		T:0	1	T:0		T	T	uc002xwl.2	protein_coding	YES	CCDS13440.1			63/2046									upper_aerodigestive_tract(1)|ovary(1)	2	c.(61-63)ACG>ACA			hmmpanther:PTHR24403,hmmpanther:PTHR24403:SF27	zinc finger protein 64 isoform a		T:0.001		ENSP00000216923	T:0	6-Feb	2.47E-05	0.000293							rs529661940,COSM3405208,COSM3405209,COSM3405210	6-Feb	.		ENST00000216923	Transcript		T:0.0002	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000020256	g.chr20:50803594C>T	15940			LOW								--	--	1																																		ZFP64_uc002xwk.2_Silent_p.T21T|ZFP64_uc002xwm.2_Silent_p.T19T|ZFP64_uc002xwn.2_Silent_p.T21T	0,1,1,1	1			p.T21T	NM_018197	NP_060667	T:0		0,1,1,1	ZF64A_HUMAN	ZFP64	HGNC	Q9NPA5	ZF64A_HUMAN			B3KQX0_HUMAN		2	412	-			UPI000006D699	21					SNV	ZFP64,synonymous_variant,p.=,ENST00000216923,NM_199426.1,NM_018197.2;ZFP64,synonymous_variant,p.=,ENST00000371515,;ZFP64,synonymous_variant,p.=,ENST00000346617,NM_022088.4;ZFP64,synonymous_variant,p.=,ENST00000361387,NM_199427.2;ZFP64,synonymous_variant,p.=,ENST00000371518,;ZFP64,non_coding_transcript_exon_variant,,ENST00000461898,;	uc002xwl.2	c.63G>A	413/3264	2	2			c.63G>A						20	SNP	c.(61-63)ACG>ACA	30	30			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	zinc finger protein 64 isoform a			50803594		0.483	ENSG00000020256	17393	g.chr20:50803594C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							9.115847	KEEP	3	7	-1	38	42	3	7	-1	21.97723	38	42	0.107143	1	0	0	0	0	0	0	1	0	--	--		0	T			ZFP64_uc002xwk.2_Silent_p.T21T|ZFP64_uc002xwm.2_Silent_p.T19T|ZFP64_uc002xwn.2_Silent_p.T21T	192	GBM-27-1833-TP	p.T21T	C	CCACCAGCACCGTTGTGCCAC	NM_018197	NP_060667	50803594	Q9NPA5	ZF64A_HUMAN	0			2	412	-	T	T			Silent	21						
ZFP64	0	broad.mit.edu	GRCh37	20	50769893	50769893	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000216923.4:c.838G>A	p.Val280Met	p.V280M	ENST00000216923	NM_199426.1	280	Gtg/Atg	0			1			T	V/M	uc002xwl.2	protein_coding	YES	CCDS13440.1			838/2046									upper_aerodigestive_tract(1)|ovary(1)	2	c.(838-840)GTG>ATG			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24403,hmmpanther:PTHR24403:SF27,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 64 isoform a				ENSP00000216923		6-Jun									COSM3405206,COSM3405207	6-Jun	.		ENST00000216923	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000020256	g.chr20:50769893C>T	15940			MODERATE		1.985	medium	getma.org/?cm=msa&ty=f&p=ZF64A_HUMAN&rb=253&re=317&var=V280M	getma.org/pdb.php?prot=ZF64A_HUMAN&from=273&to=297&var=V280M	getma.org/?cm=var&var=hg19,20,50769893,C,T&fts=all	V280M	--	--	1																																		ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.V278M|ZFP64_uc002xwn.2_Missense_Mutation_p.V226M	1,1	1		probably_damaging(0.999)	p.V280M	NM_018197	NP_060667		tolerated(0.06)	1,1	ZF64A_HUMAN	ZFP64	HGNC	Q9NPA5	ZF64A_HUMAN			B3KQX0_HUMAN		6	1187	-			UPI000006D699	280			C2H2-type 4.		SNV	ZFP64,missense_variant,p.Val280Met,ENST00000216923,NM_199426.1,NM_018197.2;ZFP64,missense_variant,p.Val278Met,ENST00000371515,;ZFP64,missense_variant,p.Val226Met,ENST00000346617,NM_022088.4;ZFP64,intron_variant,,ENST00000361387,NM_199427.2;ZFP64,intron_variant,,ENST00000371518,;ZFP64,intron_variant,,ENST00000477786,;	uc002xwl.2	c.838G>A	1188/3264	2	2			c.838G>A						20	SNP	c.(838-840)GTG>ATG	44	44			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	zinc finger protein 64 isoform a			50769893		0.552	ENSG00000020256	17393	g.chr20:50769893C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							85.147869	KEEP	11	27	-1	52	68	11	27	-1	94.209017	52	68	0.241611	1	0	0	0	0	1	0	0	0	--	--		0	T			ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.V278M|ZFP64_uc002xwn.2_Missense_Mutation_p.V226M	249	GBM-32-5222-TP	p.V280M	C	CCCGAGTGCACCCGCATGTGC	NM_018197	NP_060667	50769893	Q9NPA5	ZF64A_HUMAN	0			6	1187	-	T	T			Missense_Mutation	280			C2H2-type 4.			
ZFP69	0	broad.mit.edu	GRCh37	1	40960711	40960711	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-5958-01	TCGA-19-5958-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372705.3:c.561G>A	p.Thr187=	p.T187=	ENST00000372705	NM_198494.2	187	acG/acA	0			1			A	T	uc001cfo.2	protein_coding		CCDS30686.1			561/1581										0	c.(559-561)ACG>ACA			hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF74	zinc finger protein 642				ENSP00000361790		6-Jun	6.59E-05					6.01E-05	0.0011	0.000182	rs756573974,COSM2156841	6-Jun	.		ENST00000372705	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000187815	g.chr1:40960711G>A	24708			LOW								--	--	1																																		ZNF642_uc009vwb.2_Silent_p.T187T|ZNF642_uc010ojk.1_Silent_p.T188T	0,1				p.T187T	NM_198494	NP_940896			0,1	ZFP69_HUMAN	ZFP69	HGNC	Q49AA0	ZN642_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)				6	855	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	UPI0000160858	187					SNV	ZFP69,synonymous_variant,p.=,ENST00000372706,;ZFP69,synonymous_variant,p.=,ENST00000372705,NM_198494.2;RP11-656D10.3,intron_variant,,ENST00000450713,;ZFP69,downstream_gene_variant,,ENST00000482712,;	uc001cfo.2	c.561G>A	855/2104	2	2			c.561G>A						1	SNP	c.(559-561)ACG>ACA	42	42				0	Broad	zinc finger protein 642			40960711		0.398	ENSG00000187815	17797	g.chr1:40960711G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							120.923143	KEEP	24	21	-1	39	40	24	21	-1	122.656655	39	40	0.368421	1	0	0	0	0	0	0	1	0	--	--		0	A			ZNF642_uc009vwb.2_Silent_p.T187T|ZNF642_uc010ojk.1_Silent_p.T188T	176	GBM-19-5958-TP	p.T187T	G	TTTATTCCACGTTGAGAAAAG	NM_198494	NP_940896	40960711	Q49AA0	ZN642_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)		6	855	+	A	A	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	Silent	187						
ZFP69	0	broad.mit.edu	GRCh37	1	40945132	40945132	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-5651-01	TCGA-41-5651-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372705.3:c.99G>A	p.Glu33=	p.E33=	ENST00000372705	NM_198494.2	33	gaG/gaA	0			1			A	E	uc001cfo.2	protein_coding		CCDS30686.1			99/1581										0	c.(97-99)GAG>GAA				zinc finger protein 642				ENSP00000361790		6-Feb									COSM3400778	6-Feb	.		ENST00000372705	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000187815	g.chr1:40945132G>A	24708			LOW								--	--	1																																		ZNF642_uc009vwb.2_Silent_p.E33E|ZNF642_uc010ojk.1_Silent_p.E33E	1				p.E33E	NM_198494	NP_940896			1	ZFP69_HUMAN	ZFP69	HGNC	Q49AA0	ZN642_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)				2	393	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	UPI0000160858	33			SCAN box.		SNV	ZFP69,synonymous_variant,p.=,ENST00000372706,;ZFP69,synonymous_variant,p.=,ENST00000372705,NM_198494.2;	uc001cfo.2	c.99G>A	393/2104	1	1			c.99G>A						1	SNP	c.(97-99)GAG>GAA	52	52				0	Broad	zinc finger protein 642			40945132		0.532	ENSG00000187815	17797	g.chr1:40945132G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							50.194053	KEEP	7	9	-1	8	13	7	9	-1	50.341418	8	13	0.432432	1	0	0	0	0	0	0	1	0	--	--		0	A			ZNF642_uc009vwb.2_Silent_p.E33E|ZNF642_uc010ojk.1_Silent_p.E33E	258	GBM-41-5651-TP	p.E33E	G	CCCTGTGGGAGGATGTGACTA	NM_198494	NP_940896	40945132	Q49AA0	ZN642_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)		2	393	+	A	A	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	Silent	33			SCAN box.			
ZFP69B	0	broad.mit.edu	GRCh37	1	40919923	40919923	+	intron_variant	Intron	SNP	G	G	T			TCGA-26-6173-01	TCGA-26-6173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361584.3:c.-93-2694G>T		*31*	ENST00000361584				0			1			T		uc001cfn.1	protein_coding					-/1299									ovary(2)	2	c.(175-177)AGT>ATT				zinc finger protein 643				ENSP00000354547											COSM3400777		.		ENST00000361584	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000187801	g.chr1:40919923G>T	28053			MODIFIER	4-Feb	-0.695	neutral	getma.org/?cm=msa&ty=f&p=ZN643_HUMAN&rb=1&re=162&var=S59I	NA	getma.org/?cm=var&var=hg19,1,40919923,G,T&fts=all	S59I	--	--	1																																		ZNF643_uc001cfl.1_Intron|ZNF643_uc001cfm.1_5'UTR	1				p.S59I	NM_023070	NP_075558			1	ZF69B_HUMAN	ZFP69B	HGNC	Q9UJL9	ZN643_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)				2	473	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	UPI00000719BA	59					SNV	ZFP69B,missense_variant,p.Ser59Ile,ENST00000411995,NM_023070.2;ZFP69B,intron_variant,,ENST00000361584,;ZFP69B,intron_variant,,ENST00000484445,;ZFP69B,non_coding_transcript_exon_variant,,ENST00000469416,;	uc001cfn.1	c.176G>T	-/1976	2	2			c.176G>T						1	SNP	c.(175-177)AGT>ATT	30	30			ovary(2)	2	Broad	zinc finger protein 643			40919923		0.493	ENSG00000187801	17798	g.chr1:40919923G>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			119			119	27.970838	KEEP	6	4	0.6	3	12	6	4	0.6	28.12973	3	12	0.409091	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF643_uc001cfl.1_Intron|ZNF643_uc001cfm.1_5'UTR	187	GBM-26-6173-TP	p.S59I	G	AGTTTAGAGAGTAGAGTGACC	NM_023070	NP_075558	40919923	Q9UJL9	ZN643_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)		2	473	+	T	T	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	Missense_Mutation	59						
ZFP82	284406	broad.mit.edu	GRCh37	19	36884449	36884449	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0157-01	TCGA-06-0157-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392161.3:c.793G>A	p.Val265Ile	p.V265I	ENST00000392161	NM_133466.2	265	Gta/Ata	0			1			T	V/I	uc002ody.1	protein_coding	YES	CCDS12493.1			793/1599									central_nervous_system(1)|skin(1)	2	c.(793-795)GTA>ATA			Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF252,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 82 homolog				ENSP00000431265		5-May									COSM2150090,COSM3404149	5-May	.		ENST00000392161	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000181007	g.chr19:36884449C>T	28682			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=ZFP82_HUMAN&rb=235&re=297&var=V265I	getma.org/pdb.php?prot=ZFP82_HUMAN&from=265&to=267&var=V265I	getma.org/?cm=var&var=hg19,19,36884449,C,T&fts=all	V265I	--	--	1																																			1,1	1		probably_damaging(0.995)	p.V265I	NM_133466	NP_597723		tolerated(0.38)	1,1	ZFP82_HUMAN	ZFP82	HGNC	Q8N141	ZFP82_HUMAN			D3Y299_HUMAN		5	1028	-			UPI0000071159	265			C2H2-type 4.		SNV	ZFP82,missense_variant,p.Val265Ile,ENST00000392161,NM_133466.2;ZFP82,missense_variant,p.Val265Ile,ENST00000392171,;ZFP82,intron_variant,,ENST00000445543,;ZFP82,non_coding_transcript_exon_variant,,ENST00000590993,;	uc002ody.1	c.793G>A	1036/2623	1	1			c.793G>A						19	SNP	c.(793-795)GTA>ATA	4	4			central_nervous_system(1)|skin(1)	2	Broad	zinc finger protein 82 homolog			36884449		0.433	ENSG00000181007	17394	g.chr19:36884449C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							596.125466	KEEP	102	114	-1	131	145	102	114	-1	597.625772	131	145	0.438596	1	0	0	0	0	1	0	0	0	--	--		0	T				28	GBM-06-0157-TP	p.V265I	C	TGTCCTCGTACCCTAAAAGCC	NM_133466	NP_597723	36884449	Q8N141	ZFP82_HUMAN	0			5	1028	-	T	T			Missense_Mutation	265			C2H2-type 4.			
ZFR	51663		GRCh37	5	32390482	32390482	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000265069.8:c.2041C>T	p.Arg681Cys	p.R681C	ENST00000265069	NM_016107.3	681	Cgc/Tgc	0																																																																																																																																																																																																																																												
ZFR	51663		GRCh37	5	32388633	32388636	+	frameshift_variant	Frame_Shift_Del	DEL	CAGA	CAGA	-			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000265069.8:c.2287_2290del	p.Ser763AsnfsTer22	p.S763Nfs*22	ENST00000265069	NM_016107.3	763	TCTGaa/aa	0																																																																																																																																																																																																																																												
ZFR2	23217	broad.mit.edu	GRCh37	19	3825291	3825291	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0154-01	TCGA-06-0154-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262961.4:c.1150G>A	p.Val384Met	p.V384M	ENST00000262961	NM_015174.1	384	Gtg/Atg	0	T:0		1			T	V/M	uc002lyw.2	protein_coding	YES	CCDS45921.1			1150/2820									central_nervous_system(1)|pancreas(1)	2	c.(1150-1152)GTG>ATG			hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF85	zinc finger RNA binding protein 2 isoform 1			T:0.0001	ENSP00000262961		19-Jul	3.32E-05					0.000165			rs371712225,COSM3201225	19-Jul	.		ENST00000262961	Transcript				intracellular	nucleic acid binding|zinc ion binding	ENSG00000105278	g.chr19:3825291C>T	29189			MODERATE		1.3	low	getma.org/?cm=msa&ty=f&p=ZFR2_HUMAN&rb=344&re=467&var=V384M	NA	getma.org/?cm=var&var=hg19,19,3825291,C,T&fts=all	V384M	--	--	1																																		ZFR2_uc010xhx.1_Intron	0,1	1		benign(0.068)	p.V384M	NM_015174	NP_055989		tolerated(0.21)	0,1	ZFR2_HUMAN	ZFR2	HGNC	Q9UPR6	ZFR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)			7	1162	-			UPI0000DD84BE	384					SNV	ZFR2,missense_variant,p.Val384Met,ENST00000262961,NM_015174.1;ZFR2,intron_variant,,ENST00000438164,;	uc002lyw.2	c.1150G>A	1161/4756	1	1			c.1150G>A						19	SNP	c.(1150-1152)GTG>ATG	11	11			central_nervous_system(1)|pancreas(1)	2	Broad	zinc finger RNA binding protein 2 isoform 1			3825291		0.672	ENSG00000105278	17401	g.chr19:3825291C>T		intracellular	nucleic acid binding|zinc ion binding							8.490514	KEEP	2	4	-1	5	14	2	4	-1	9.580948	5	14	0.235294	1	0	0	0	0	1	0	0	0	--	--		0	T			ZFR2_uc010xhx.1_Intron	26	GBM-06-0154-TP	p.V384M	C	GAGGCACACACGCTGGGGCCA	NM_015174	NP_055989	3825291	Q9UPR6	ZFR2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)	7	1162	-	T	T			Missense_Mutation	384						
ZFR2	0	broad.mit.edu	GRCh37	19	3825268	3825268	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-16-0861-01	TCGA-16-0861-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262961.4:c.1173G>A	p.Ala391=	p.A391=	ENST00000262961	NM_015174.1	391	gcG/gcA	0			1			T	A	uc002lyw.2	protein_coding	YES	CCDS45921.1			1173/2820									central_nervous_system(1)|pancreas(1)	2	c.(1171-1173)GCG>GCA			hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF85	zinc finger RNA binding protein 2 isoform 1				ENSP00000262961		19-Jul									COSM3404174	19-Jul	.		ENST00000262961	Transcript				intracellular	nucleic acid binding|zinc ion binding	ENSG00000105278	g.chr19:3825268C>T	29189			LOW								--	--	1																																		ZFR2_uc010xhx.1_Intron	1	1			p.A391A	NM_015174	NP_055989			1	ZFR2_HUMAN	ZFR2	HGNC	Q9UPR6	ZFR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)			7	1185	-			UPI0000DD84BE	391					SNV	ZFR2,synonymous_variant,p.=,ENST00000262961,NM_015174.1;ZFR2,intron_variant,,ENST00000438164,;	uc002lyw.2	c.1173G>A	1184/4756	2	2			c.1173G>A						19	SNP	c.(1171-1173)GCG>GCA	25	25			central_nervous_system(1)|pancreas(1)	2	Broad	zinc finger RNA binding protein 2 isoform 1			3825268		0.672	ENSG00000105278	17401	g.chr19:3825268C>T		intracellular	nucleic acid binding|zinc ion binding							7.621297	KEEP	3	0	-1	2	7	3	0	-1	7.978585	2	7	0.3	1	0	0	0	0	0	0	1	0	--	--		0	T			ZFR2_uc010xhx.1_Intron	156	GBM-16-0861-TP	p.A391A	C	TCTTGGCCAGCGCTGGCCTGC	NM_015174	NP_055989	3825268	Q9UPR6	ZFR2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)	7	1185	-	T	T			Silent	391						
ZFR2	0	broad.mit.edu	GRCh37	19	3823274	3823274	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-28-5216-01	TCGA-28-5216-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262961.4:c.1341G>T	p.Ala447=	p.A447=	ENST00000262961	NM_015174.1	447	gcG/gcT	0			1			A	A	uc002lyw.2	protein_coding	YES	CCDS45921.1			1341/2820									central_nervous_system(1)|pancreas(1)	2	c.(1339-1341)GCG>GCT			hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF85,Superfamily_domains:SSF57667	zinc finger RNA binding protein 2 isoform 1				ENSP00000262961		19-Aug									COSM3404173	19-Aug	.		ENST00000262961	Transcript				intracellular	nucleic acid binding|zinc ion binding	ENSG00000105278	g.chr19:3823274C>A	29189			LOW								--	--	1																																		ZFR2_uc010xhx.1_RNA	1	1			p.A447A	NM_015174	NP_055989			1	ZFR2_HUMAN	ZFR2	HGNC	Q9UPR6	ZFR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)			8	1353	-			UPI0000DD84BE	447					SNV	ZFR2,synonymous_variant,p.=,ENST00000262961,NM_015174.1;ZFR2,3_prime_UTR_variant,,ENST00000438164,;	uc002lyw.2	c.1341G>T	1352/4756	1	1			c.1341G>T						19	SNP	c.(1339-1341)GCG>GCT	49	49			central_nervous_system(1)|pancreas(1)	2	Broad	zinc finger RNA binding protein 2 isoform 1			3823274		0.622	ENSG00000105278	17401	g.chr19:3823274C>A		intracellular	nucleic acid binding|zinc ion binding							16.72796	KEEP	19	17	0.472222222	166	178	19	17	0.472222222	67.370311	166	178	0.094463	1	0	0	0	0	0	0	1	0	--	--		0	A			ZFR2_uc010xhx.1_RNA	223	GBM-28-5216-TP	p.A447A	C	CCACCGGCTGCGCATCAGAGC	NM_015174	NP_055989	3823274	Q9UPR6	ZFR2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)	8	1353	-	A	A			Silent	447						
ZFX	7543	broad.mit.edu	GRCh37	X	24229156	24229156	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-5856-01	TCGA-06-5856-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000379177.1:c.2081A>C	p.His694Pro	p.H694P	ENST00000379177	NM_003410.3	694	cAt/cCt	0			1			C	H/P	uc004dbf.2	protein_coding		CCDS14211.1			2081/2418									ovary(2)	2	c.(2080-2082)CAT>CCT			Pfam_domain:PF13909,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF208,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein, X-linked				ENSP00000304985		10-Oct									COSM3406246	10-Oct	.		ENST00000304543	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	ENSG00000005889	g.chrX:24229156A>C	12869			MODERATE		2.805	medium	getma.org/?cm=msa&ty=f&p=ZFX_HUMAN&rb=656&re=719&var=H694P	getma.org/pdb.php?prot=ZFX_HUMAN&from=676&to=699&var=H694P	getma.org/?cm=var&var=hg19,X,24229156,A,C&fts=all	H694P	--	--	1																																		ZFX_uc004dbe.2_3'UTR|ZFX_uc011mjv.1_Missense_Mutation_p.H733P|ZFX_uc010nfz.2_Missense_Mutation_p.H350P	1			probably_damaging(0.999)	p.H694P	NM_003410	NP_003401		deleterious(0)	1	ZFX_HUMAN	ZFX	HGNC	P17010	ZFX_HUMAN			Q9BYX9_HUMAN,Q8WXB8_HUMAN,Q8NHZ5_HUMAN,C9JGU9_HUMAN,C9J682_HUMAN		9	2339	+			UPI000013C504	694			C2H2-type 10.		SNV	ZFX,missense_variant,p.His694Pro,ENST00000379177,NM_003410.3,NM_001178085.1;ZFX,missense_variant,p.His694Pro,ENST00000379188,NM_001178084.1,NM_001178095.1;ZFX,missense_variant,p.His465Pro,ENST00000539115,NM_001178086.1;ZFX,missense_variant,p.His694Pro,ENST00000304543,;ZFX,missense_variant,p.His733Pro,ENST00000540034,;ZFX,missense_variant,p.His644Pro,ENST00000338565,;ZFX,downstream_gene_variant,,ENST00000459724,;	uc004dbf.2	c.2081A>C	2335/2996	3	3			c.2081A>C						23	SNP	c.(2080-2082)CAT>CCT	60	60			ovary(2)	2	Broad	zinc finger protein, X-linked			24229156		0.433	ENSG00000005889	17402	g.chrX:24229156A>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	Esophageal Squamous(20;306 562 7346 32868 37983)			Esophageal Squamous(20;306 562 7346 32868 37983)			399.539788	KEEP	46	62	-1	5	8	46	62	-1	416.539027	5	8	0.886957	1	0	0	0	0	1	0	0	0	--	--		0	C			ZFX_uc004dbe.2_3'UTR|ZFX_uc011mjv.1_Missense_Mutation_p.H733P|ZFX_uc010nfz.2_Missense_Mutation_p.H350P	101	GBM-06-5856-TP	p.H694P	A	CAGTGTAGACATTGTGACTTT	NM_003410	NP_003401	24229156	P17010	ZFX_HUMAN	0			9	2339	+	C	C			Missense_Mutation	694			C2H2-type 10.			
ZFYVE20	0	broad.mit.edu	GRCh37	3	15123959	15123959	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-2631-01	TCGA-19-2631-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000253699.3:c.755G>T	p.Cys252Phe	p.C252F	ENST00000253699	NM_022340.2	252	tGt/tTt	0			1			A	C/F	uc003bzm.1	protein_coding	YES	CCDS2623.1			755/2355									skin(2)	2	c.(754-756)TGT>TTT			Superfamily_domains:SSF57903,SMART_domains:SM00064,Pfam_domain:PF01363,Gene3D:3.30.40.10,hmmpanther:PTHR13510:SF18,hmmpanther:PTHR13510,PROSITE_profiles:PS50178	FYVE-finger-containing Rab5 effector protein				ENSP00000253699		14-Sep									COSM3408350	14-Sep	.		ENST00000253699	Transcript			blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	ENSG00000131381	g.chr3:15123959C>A	20759			MODERATE		2.46	medium	getma.org/?cm=msa&ty=f&p=RBNS5_HUMAN&rb=152&re=261&var=C252F	NA	getma.org/?cm=var&var=hg19,3,15123959,C,A&fts=all	C252F	--	--	1																																		ZFYVE20_uc010hek.1_Missense_Mutation_p.C252F|ZFYVE20_uc011avn.1_Intron	1	1		probably_damaging(1)	p.C252F	NM_022340	NP_071735		deleterious(0)	1	RBNS5_HUMAN	ZFYVE20	HGNC	Q9H1K0	RBNS5_HUMAN			D6RD50_HUMAN		9	1369	-			UPI0000051CE0	252			FYVE-type.|Necessary for the correct targeting to endosomes.		SNV	ZFYVE20,missense_variant,p.Cys252Phe,ENST00000253699,NM_022340.2;ZFYVE20,missense_variant,p.Cys252Phe,ENST00000476527,;ZFYVE20,intron_variant,,ENST00000435849,;ZFYVE20,intron_variant,,ENST00000449964,;ZFYVE20,upstream_gene_variant,,ENST00000483098,;ZFYVE20,downstream_gene_variant,,ENST00000441057,;ZFYVE20,upstream_gene_variant,,ENST00000426541,;ZFYVE20,downstream_gene_variant,,ENST00000463214,;	uc003bzm.1	c.755G>T	1369/6678	1	1			c.755G>T						3	SNP	c.(754-756)TGT>TTT	52	52			skin(2)	2	Broad	FYVE-finger-containing Rab5 effector protein			15123959		0.572	ENSG00000131381	17407	g.chr3:15123959C>A	blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding							-6.131028	KEEP	3	0	-1	37	33	3	0	-1	7.595411	37	33	0.047619	1	0	0	0	0	1	0	0	0	--	--		0	A			ZFYVE20_uc010hek.1_Missense_Mutation_p.C252F|ZFYVE20_uc011avn.1_Intron	167	GBM-19-2631-TP	p.C252F	C	GCAGTGTGTACAGCAGCGGAT	NM_022340	NP_071735	15123959	Q9H1K0	RBNS5_HUMAN	0			9	1369	-	A	A			Missense_Mutation	252			FYVE-type.|Necessary for the correct targeting to endosomes.			
ZFYVE20	0	broad.mit.edu	GRCh37	3	15115967	15115967	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-32-2491-01	TCGA-32-2491-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000253699.3:c.1677G>T	p.Leu559=	p.L559=	ENST00000253699	NM_022340.2	559	ctG/ctT	0			1			A	L	uc003bzm.1	protein_coding	YES	CCDS2623.1			1677/2355									skin(2)	2	c.(1675-1677)CTG>CTT			hmmpanther:PTHR13510:SF18,hmmpanther:PTHR13510	FYVE-finger-containing Rab5 effector protein				ENSP00000253699		14/14									COSM3408349	14/14	.		ENST00000253699	Transcript			blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	ENSG00000131381	g.chr3:15115967C>A	20759			LOW								--	--	1																																		ZFYVE20_uc010hek.1_Silent_p.L559L	1	1			p.L559L	NM_022340	NP_071735			1	RBNS5_HUMAN	ZFYVE20	HGNC	Q9H1K0	RBNS5_HUMAN			D6RD50_HUMAN		14	2291	-			UPI0000051CE0	559			Necessary for the interaction with EHD1.		SNV	ZFYVE20,synonymous_variant,p.=,ENST00000253699,NM_022340.2;ZFYVE20,synonymous_variant,p.=,ENST00000476527,;ZFYVE20,downstream_gene_variant,,ENST00000449964,;ZFYVE20,downstream_gene_variant,,ENST00000483098,;ZFYVE20,downstream_gene_variant,,ENST00000426541,;	uc003bzm.1	c.1677G>T	2291/6678	2	2			c.1677G>T						3	SNP	c.(1675-1677)CTG>CTT	45	45			skin(2)	2	Broad	FYVE-finger-containing Rab5 effector protein			15115967		0.572	ENSG00000131381	17407	g.chr3:15115967C>A	blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding							-6.963873	KEEP	3	1	0.25	44	34	3	1	0.25	7.731757	44	34	0.056338	1	0	0	0	0	0	0	1	0	--	--		0	A			ZFYVE20_uc010hek.1_Silent_p.L559L	235	GBM-32-2491-TP	p.L559L	C	TGCTGGGCTCCAGCTGAAAAG	NM_022340	NP_071735	15115967	Q9H1K0	RBNS5_HUMAN	0			14	2291	-	A	A			Silent	559			Necessary for the interaction with EHD1.			
ZFYVE26	23503	broad.mit.edu	GRCh37	14	68274397	68274397	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01	TCGA-06-2565-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000347230.4:c.604C>T	p.Arg202Trp	p.R202W	ENST00000347230	NM_015346.3	202	Cgg/Tgg	0			1			A	R/W	uc001xka.2	protein_coding	YES	CCDS9788.1			604/7620									ovary(9)|breast(2)	11	c.(604-606)CGG>TGG				zinc finger, FYVE domain containing 26				ENSP00000251119		May-42	8.24E-06							6.06E-05	rs765780851,COSM1562571	May-42	.		ENST00000347230	Transcript	1		cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	ENSG00000072121	g.chr14:68274397G>A	20761			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=ZFY26_HUMAN&rb=88&re=287&var=R202W	NA	getma.org/?cm=var&var=hg19,14,68274397,G,A&fts=all	R202W	--	--	1																																		ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.R202W|ZFYVE26_uc010tta.1_Missense_Mutation_p.R202W	0,1	1		benign(0.409)	p.R202W	NM_015346	NP_056161		deleterious(0.01)	0,1	ZFY26_HUMAN	ZFYVE26	HGNC	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)			5	743	-			UPI00001FD735	202					SNV	ZFYVE26,missense_variant,p.Arg202Trp,ENST00000347230,NM_015346.3;ZFYVE26,missense_variant,p.Arg202Trp,ENST00000555452,;ZFYVE26,missense_variant,p.Arg202Trp,ENST00000554557,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000554523,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000557366,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000557407,;	uc001xka.2	c.604C>T	743/9675	1	1			c.604C>T						14	SNP	c.(604-606)CGG>TGG	63	63			ovary(9)|breast(2)	11	Broad	zinc finger, FYVE domain containing 26			68274397		0.612	ENSG00000072121	17409	g.chr14:68274397G>A	cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding							-46.351769	KEEP	2	2	-1	108	103	2	2	-1	7.052853	108	103	0.019417	1	0	0	0	0	1	0	0	0	--	--		0	A			ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.R202W|ZFYVE26_uc010tta.1_Missense_Mutation_p.R202W	88	GBM-06-2565-TP	p.R202W	G	TGCAAAGCCCGCAATGCCTTT	NM_015346	NP_056161	68274397	Q68DK2	ZFY26_HUMAN	0		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	5	743	-	A	A			Missense_Mutation	202						
ZFYVE28	57732	broad.mit.edu	GRCh37	4	2306576	2306576	+	synonymous_variant	Silent	SNP	G	G	A	rs146596546	by1000genomes	TCGA-06-0195-01	TCGA-06-0195-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000290974.2:c.1491C>T	p.Asp497=	p.D497=	ENST00000290974	NM_020972.2	497	gaC/gaT	0	A:0.0002	A:0.0008	1	A:0		A	D	uc003gex.1	protein_coding	YES	CCDS33942.1			1491/2664									skin(2)|ovary(1)	3	c.(1489-1491)GAC>GAT			hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF140	zinc finger, FYVE domain containing 28		A:0	A:0.0001	ENSP00000290974	A:0	13-Aug	0.000174			0.00142		3.20E-05		0.00043	rs146596546,COSM1429191	13-Aug	common_variant		ENST00000290974	Transcript		A:0.0002	negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	ENSG00000159733	g.chr4:2306576G>A	29334			LOW								--	--	1																																		ZFYVE28_uc011bvk.1_Silent_p.D427D|ZFYVE28_uc011bvl.1_Silent_p.D467D|ZFYVE28_uc003gew.1_Silent_p.D383D	0,1	1			p.D497D	NM_020972	NP_066023	A:0		0,1	LST2_HUMAN	ZFYVE28	HGNC	Q9HCC9	LST2_HUMAN			Q49AA1_HUMAN,D6RID3_HUMAN		8	1810	-			UPI00001C1E08	497					SNV	ZFYVE28,synonymous_variant,p.=,ENST00000290974,NM_020972.2;ZFYVE28,synonymous_variant,p.=,ENST00000511071,NM_001172656.1;ZFYVE28,synonymous_variant,p.=,ENST00000515312,NM_001172659.1;RP11-478C1.7,intron_variant,,ENST00000510632,;	uc003gex.1	c.1491C>T	1831/4131	2	2			c.1491C>T						4	SNP	c.(1489-1491)GAC>GAT	30	30			skin(2)|ovary(1)	3	Broad	zinc finger, FYVE domain containing 28			2306576		0.672	ENSG00000159733	17411	g.chr4:2306576G>A	negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding							136.337526	KEEP	22	31	-1	37	31	22	31	-1	136.593038	37	31	0.446602	1	0	0	0	0	0	0	1	0	--	--		0	A			ZFYVE28_uc011bvk.1_Silent_p.D427D|ZFYVE28_uc011bvl.1_Silent_p.D467D|ZFYVE28_uc003gew.1_Silent_p.D383D	45	GBM-06-0195-TP	p.D497D	G	CCGTCTCTGCGTCATCCGCAC	NM_020972	NP_066023	2306576	Q9HCC9	LST2_HUMAN	0			8	1810	-	A	A			Silent	497						
ZFYVE9	0	broad.mit.edu	GRCh37	1	52704095	52704095	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-28-2513-01	TCGA-28-2513-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000287727.3:c.1006G>T	p.Gly336Cys	p.G336C	ENST00000287727	NM_004799.3	336	Ggt/Tgt	0			1			T	G/C	uc001cto.2	protein_coding	YES	CCDS563.1			1006/4278									ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8	c.(1006-1008)GGT>TGT			PIRSF_domain:PIRSF037289	zinc finger, FYVE domain containing 9 isoform 3				ENSP00000287727		19-Apr	8.24E-06					1.50E-05			rs770706827,COSM3400870	19-Apr	.		ENST00000287727	Transcript			endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	ENSG00000157077	g.chr1:52704095G>T	6775			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=ZFYV9_HUMAN&rb=1&re=664&var=G336C	NA	getma.org/?cm=var&var=hg19,1,52704095,G,T&fts=all	G336C	--	--	1																																		ZFYVE9_uc001ctn.2_Missense_Mutation_p.G336C|ZFYVE9_uc001ctp.2_Missense_Mutation_p.G336C	0,1	1		possibly_damaging(0.572)	p.G336C	NM_004799	NP_004790		deleterious_low_confidence(0.02)	0,1	ZFYV9_HUMAN	ZFYVE9	HGNC	O95405	ZFYV9_HUMAN					4	1178	+			UPI0000001620	336					SNV	ZFYVE9,missense_variant,p.Gly336Cys,ENST00000287727,NM_004799.3;ZFYVE9,missense_variant,p.Gly336Cys,ENST00000371591,;ZFYVE9,missense_variant,p.Gly336Cys,ENST00000357206,NM_007324.3;ZFYVE9,non_coding_transcript_exon_variant,,ENST00000361625,;	uc001cto.2	c.1006G>T	1178/4914	1	1			c.1006G>T						1	SNP	c.(1006-1008)GGT>TGT	13	13			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8	Broad	zinc finger, FYVE domain containing 9 isoform 3			52704095		0.468	ENSG00000157077	17412	g.chr1:52704095G>T	endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			498			498	20.294189	KEEP	8	12	0.4	75	82	8	12	0.4	44.876017	75	82	0.113772	1	0	0	0	0	1	0	0	0	--	--		0	T			ZFYVE9_uc001ctn.2_Missense_Mutation_p.G336C|ZFYVE9_uc001ctp.2_Missense_Mutation_p.G336C	213	GBM-28-2513-TP	p.G336C	G	CCTCCGGTCTGGTTTACCTTT	NM_004799	NP_004790	52704095	O95405	ZFYV9_HUMAN	0			4	1178	+	T	T			Missense_Mutation	336						
ZG16B	0	broad.mit.edu	GRCh37	16	2880250	2880251	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-12-0692-01	TCGA-12-0692-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000382280.3:c.7dupG	p.Ala3GlyfsTer66	p.A3Gfs*66	ENST00000382280	NM_145252.2	1	atg/atGg	0	G:0.0121		1			G	M/MX	uc002cru.2	protein_coding	YES	CCDS10479.2			2-3/627									ovary(1)	1	c.(1-3)ATGfs				zymogen granule protein 16 homolog B precursor			G:0.0112	ENSP00000371715		4-Jan									TMP_ESP_16_2880251_2880250	4-Jan	.		ENST00000382280	Transcript				extracellular region	sugar binding	ENSG00000162078	g.chr16:2880250_2880251insG	30456	5		HIGH								--	--	1																																				1			p.M1fs	NM_145252	NP_660295				ZG16B_HUMAN	ZG16B	HGNC	Q96DA0	ZG16B_HUMAN			G8H6I3_HUMAN,C3PTT6_HUMAN		1	78_79	+			UPI000059D2F8	1					insertion	ZG16B,frameshift_variant,p.Ala3GlyfsTer66,ENST00000382280,NM_145252.2;ZG16B,upstream_gene_variant,,ENST00000570670,;ZG16B,upstream_gene_variant,,ENST00000572863,;ZG16B,upstream_gene_variant,,ENST00000571723,;PRSS21,downstream_gene_variant,,ENST00000575739,;ZG16B,upstream_gene_variant,,ENST00000576423,;ZG16B,upstream_gene_variant,,ENST00000573019,;	uc002cru.2	c.2_3insG	81-82/831	5	5			c.2_3insG						16	INS	c.(1-3)ATGfs	48	48			ovary(1)	1	Broad	zymogen granule protein 16 homolog B precursor			2880251		0.683	ENSG00000162078	17413	g.chr16:2880250_2880251insG		extracellular region	sugar binding																				0.13	1	0	0	1	1	0	0	0	0	--	--		0	G				122	GBM-12-0692-TP	p.M1fs	-	TCCTTCTGGATGGGGGCCCAGG	NM_145252	NP_660295	2880250	Q96DA0	ZG16B_HUMAN	0			1	78_79	+	G	G			Frame_Shift_Ins	1						
ZGPAT	84619		GRCh37	20	62367145	62367145	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000328969.5:c.1470G>A	p.Ala490=	p.A490=	ENST00000328969	NM_032527.4	490	gcG/gcA	0																																																																																																																																																																																																																																												
ZHX2	0	broad.mit.edu	GRCh37	8	123965254	123965254	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-27-2519-01	TCGA-27-2519-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314393.4:c.1504A>C	p.Thr502Pro	p.T502P	ENST00000314393	NM_014943.3	502	Acc/Ccc	0			1			C	T/P	uc003ypk.1	protein_coding	YES	CCDS6336.1			1504/2514									ovary(1)|skin(1)	2	c.(1504-1506)ACC>CCC			hmmpanther:PTHR15467,hmmpanther:PTHR15467:SF5	zinc fingers and homeoboxes 2				ENSP00000314709		4-Mar									COSM3748382	4-Mar	.		ENST00000314393	Transcript				cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000178764	g.chr8:123965254A>C	18513			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=ZHX2_HUMAN&rb=497&re=533&var=T502P	NA	getma.org/?cm=var&var=hg19,8,123965254,A,C&fts=all	T502P	--	--	1																																			1	1		benign(0.055)	p.T502P	NM_014943	NP_055758		tolerated(0.26)	1	ZHX2_HUMAN	ZHX2	HGNC	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		H0YKA3_HUMAN		3	2071	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		UPI0000073CCB	502					SNV	ZHX2,missense_variant,p.Thr502Pro,ENST00000314393,NM_014943.3;ZHX2,downstream_gene_variant,,ENST00000534247,;	uc003ypk.1	c.1504A>C	2339/4622	4	4			c.1504A>C						8	SNP	c.(1504-1506)ACC>CCC	48	48			ovary(1)|skin(1)	2	Broad	zinc fingers and homeoboxes 2			123965254		0.572	ENSG00000178764	17417	g.chr8:123965254A>C		cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	Esophageal Squamous(94;1056 1388 11767 13799 49639)			Esophageal Squamous(94;1056 1388 11767 13799 49639)			90.570778	KEEP	7	24	-1	21	51	7	24	-1	93.56795	21	51	0.307692	1	0	0	0	0	1	0	0	0	--	--		0	C				199	GBM-27-2519-TP	p.T502P	A	CGTCCACATCACCAGCGAATC	NM_014943	NP_055758	123965254	Q9Y6X8	ZHX2_HUMAN	0	STAD - Stomach adenocarcinoma(47;0.00527)		3	2071	+	C	C	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		Missense_Mutation	502						
ZIC1	7545	broad.mit.edu	GRCh37	3	147130368	147130368	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01	TCGA-06-0155-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282928.4:c.1046G>A	p.Arg349His	p.R349H	ENST00000282928	NM_003412.3	349	cGc/cAc	0			1			A	R/H	uc003ewe.2	protein_coding	YES	CCDS3136.1			1046/1344									ovary(1)|central_nervous_system(1)	2	c.(1045-1047)CGC>CAC			PROSITE_profiles:PS50157,hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF26,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein of the cerebellum 1				ENSP00000282928		3-Feb									COSM2149998	3-Feb	.		ENST00000282928	Transcript	1		behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000152977	g.chr3:147130368G>A	12872			MODERATE		1.795	low	getma.org/?cm=msa&ty=f&p=ZIC1_HUMAN&rb=316&re=391&var=R349H	getma.org/pdb.php?prot=ZIC1_HUMAN&from=346&to=361&var=R349H	getma.org/?cm=var&var=hg19,3,147130368,G,A&fts=all	R349H	--	--	1																																			1	1		probably_damaging(0.992)	p.R349H	NM_003412	NP_003403		deleterious(0)	1	ZIC1_HUMAN	ZIC1	HGNC	Q15915	ZIC1_HUMAN					2	1765	+			UPI000013DD09	349			C2H2-type 4.		SNV	ZIC1,missense_variant,p.Arg349His,ENST00000282928,NM_003412.3;ZIC1,missense_variant,p.Arg38His,ENST00000488404,;ZIC1,intron_variant,,ENST00000472523,;	uc003ewe.2	c.1046G>A	1775/5241	1	1			c.1046G>A						3	SNP	c.(1045-1047)CGC>CAC	54	54			ovary(1)|central_nervous_system(1)	2	Broad	zinc finger protein of the cerebellum 1			147130368		0.542	ENSG00000152977	17419	g.chr3:147130368G>A	behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							62.433314	KEEP	18	12	-1	51	40	18	12	-1	68.673723	51	40	0.245283	1	0	0	0	0	1	0	0	0	--	--		0	A				27	GBM-06-0155-TP	p.R349H	G	AGCAGCGACCGCAAGAAGCAC	NM_003412	NP_003403	147130368	Q15915	ZIC1_HUMAN	0			2	1765	+	A	A			Missense_Mutation	349			C2H2-type 4.			
ZIC1	0	broad.mit.edu	GRCh37	3	147128086	147128086	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282928.4:c.187G>A	p.Ala63Thr	p.A63T	ENST00000282928	NM_003412.3	63	Gcc/Acc	0			1			A	A/T	uc003ewe.2	protein_coding	YES	CCDS3136.1			187/1344									ovary(1)|central_nervous_system(1)	2	c.(187-189)GCC>ACC			hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF26	zinc finger protein of the cerebellum 1				ENSP00000282928		3-Jan									COSM2157461	3-Jan	.		ENST00000282928	Transcript	1		behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000152977	g.chr3:147128086G>A	12872			MODERATE		1.32	low	getma.org/?cm=msa&ty=f&p=ZIC1_HUMAN&rb=1&re=169&var=A63T	NA	getma.org/?cm=var&var=hg19,3,147128086,G,A&fts=all	A63T	--	--	1																																			1	1		benign(0.296)	p.A63T	NM_003412	NP_003403		tolerated(0.11)	1	ZIC1_HUMAN	ZIC1	HGNC	Q15915	ZIC1_HUMAN					1	906	+			UPI000013DD09	63					SNV	ZIC1,missense_variant,p.Ala63Thr,ENST00000282928,NM_003412.3;ZIC1,intron_variant,,ENST00000488404,;ZIC4,upstream_gene_variant,,ENST00000383075,NM_032153.5;ZIC4,upstream_gene_variant,,ENST00000425731,NM_001168379.1;ZIC4,upstream_gene_variant,,ENST00000473123,;ZIC4,upstream_gene_variant,,ENST00000462748,;ZIC4,upstream_gene_variant,,ENST00000491672,NM_001243256.1;ZIC4,upstream_gene_variant,,ENST00000463250,;ZIC1,intron_variant,,ENST00000472523,;ZIC4,upstream_gene_variant,,ENST00000464144,;	uc003ewe.2	c.187G>A	916/5241	1	1			c.187G>A						3	SNP	c.(187-189)GCC>ACC	56	56			ovary(1)|central_nervous_system(1)	2	Broad	zinc finger protein of the cerebellum 1			147128086		0.687	ENSG00000152977	17419	g.chr3:147128086G>A	behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							108.217465	KEEP	20	24	-1	13	23	20	24	-1	108.471309	13	23	0.565217	1	0	0	0	0	1	0	0	0	--	--		0	A				265	GBM-76-4925-TP	p.A63T	G	CGGCCAGACGGCCTTCACGTC	NM_003412	NP_003403	147128086	Q15915	ZIC1_HUMAN	0			1	906	+	A	A			Missense_Mutation	63						
ZIC4	84107	broad.mit.edu	GRCh37	3	147113783	147113783	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-5412-01	TCGA-06-5412-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000525172.2:c.694G>C	p.Gly232Arg	p.G232R	ENST00000525172	NM_001168378.1	232	Gga/Cga	0			1			G	G/R	uc003ewd.1	protein_coding		CCDS43160.1			544/1005									upper_aerodigestive_tract(1)|central_nervous_system(1)	2	c.(544-546)GGA>CGA			PROSITE_profiles:PS50157,hmmpanther:PTHR19818,Gene3D:3.30.160.60,SMART_domains:SM00355	zinc finger protein of the cerebellum 4				ENSP00000372553		5-Mar									COSM3408318,COSM3408317	5-Mar	.		ENST00000383075	Transcript	1			nucleus	DNA binding|zinc ion binding	ENSG00000174963	g.chr3:147113783C>G	20393			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=ZIC4_HUMAN&rb=133&re=219&var=G182R	getma.org/pdb.php?prot=ZIC4_HUMAN&from=163&to=189&var=G182R	getma.org/?cm=var&var=hg19,3,147113783,C,G&fts=all	G182R	--	--	1																																		ZIC4_uc003ewc.1_Missense_Mutation_p.G112R|ZIC4_uc011bno.1_Missense_Mutation_p.G232R	1,1			probably_damaging(0.99)	p.G182R	NM_032153	NP_115529		deleterious(0.05)	1,1	ZIC4_HUMAN	ZIC4	HGNC	Q8N9L1	ZIC4_HUMAN			C9JZU7_HUMAN,C9JD04_HUMAN,C9J6T3_HUMAN,B3KPI4_HUMAN		3	817	-			UPI000013F1E0	182			C2H2-type 2; atypical.		SNV	ZIC4,missense_variant,p.Gly182Arg,ENST00000383075,NM_032153.5;ZIC4,missense_variant,p.Gly232Arg,ENST00000525172,NM_001168378.1;ZIC4,missense_variant,p.Gly220Arg,ENST00000425731,NM_001168379.1;ZIC4,missense_variant,p.Gly182Arg,ENST00000484399,;ZIC4,missense_variant,p.Gly182Arg,ENST00000473123,;ZIC4,missense_variant,p.Gly182Arg,ENST00000462748,;ZIC4,intron_variant,,ENST00000491672,NM_001243256.1;ZIC1,intron_variant,,ENST00000488404,;ZIC4,downstream_gene_variant,,ENST00000463250,;ZIC4,downstream_gene_variant,,ENST00000484586,;ZIC1,intron_variant,,ENST00000472523,;ZIC4,upstream_gene_variant,,ENST00000472749,;ZIC4,upstream_gene_variant,,ENST00000463850,;ZIC4,upstream_gene_variant,,ENST00000475502,;ZIC4,upstream_gene_variant,,ENST00000464502,;ZIC4,non_coding_transcript_exon_variant,,ENST00000493664,;ZIC4,upstream_gene_variant,,ENST00000494569,;	uc003ewd.1	c.544G>C	1057/4331	3	3			c.544G>C						3	SNP	c.(544-546)GGA>CGA	13	13			upper_aerodigestive_tract(1)|central_nervous_system(1)	2	Broad	zinc finger protein of the cerebellum 4			147113783		0.597	ENSG00000174963	17422	g.chr3:147113783C>G		nucleus	DNA binding|zinc ion binding							54.464839	KEEP	20	22	-1	124	163	20	22	-1	92.966446	124	163	0.12892	1	0	0	0	0	1	0	0	0	--	--		0	G			ZIC4_uc003ewc.1_Missense_Mutation_p.G112R|ZIC4_uc011bno.1_Missense_Mutation_p.G232R	95	GBM-06-5412-TP	p.G182R	C	AAGGGCTTTCCCTGGCGCGGA	NM_032153	NP_115529	147113783	Q8N9L1	ZIC4_HUMAN	0			3	817	-	G	G			Missense_Mutation	182			C2H2-type 2; atypical.			
ZIM3	0	broad.mit.edu	GRCh37	19	57646590	57646590	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-41-2575-01	TCGA-41-2575-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269834.1:c.1115T>A	p.Phe372Tyr	p.F372Y	ENST00000269834	NM_052882.1	372	tTt/tAt	0			1			T	F/Y	uc002qnz.1	protein_coding	YES	CCDS33125.1			1115/1419									pancreas(1)|skin(1)	2	c.(1114-1116)TTT>TAT			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF30,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	zinc finger, imprinted 3				ENSP00000269834		5-May									COSM3404700	5-May	.		ENST00000269834	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000141946	g.chr19:57646590A>T	16366			MODERATE		1.9	low	getma.org/?cm=msa&ty=f&p=ZIM3_HUMAN&rb=330&re=394&var=F372Y	getma.org/pdb.php?prot=ZIM3_HUMAN&from=350&to=374&var=F372Y	getma.org/?cm=var&var=hg19,19,57646590,A,T&fts=all	F372Y	--	--	1																																			1	1		probably_damaging(0.99)	p.F372Y	NM_052882	NP_443114		deleterious(0)	1	ZIM3_HUMAN	ZIM3	HGNC	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)			5	1501	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	UPI000013C3E0	372			C2H2-type 8.		SNV	ZIM3,missense_variant,p.Phe372Tyr,ENST00000269834,NM_052882.1;USP29,downstream_gene_variant,,ENST00000254181,NM_020903.2;USP29,downstream_gene_variant,,ENST00000598197,;U3,upstream_gene_variant,,ENST00000516874,;	uc002qnz.1	c.1115T>A	1501/2627	2	2			c.1115T>A						19	SNP	c.(1114-1116)TTT>TAT	43	43			pancreas(1)|skin(1)	2	Broad	zinc finger, imprinted 3			57646590		0.378	ENSG00000141946	17426	g.chr19:57646590A>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							306.581837	KEEP	58	50	-1	30	29	58	50	-1	309.38569	30	29	0.644737	1	0	0	0	0	1	0	0	0	--	--		0	T				253	GBM-41-2575-TP	p.F372Y	A	CTTCTGGATAAAGGTATTTCC	NM_052882	NP_443114	57646590	Q96PE6	ZIM3_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1501	-	T	T		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	Missense_Mutation	372			C2H2-type 8.			
ZKSCAN1	7586	broad.mit.edu	GRCh37	7	99621816	99621816	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01	TCGA-06-0876-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324306.6:c.466G>A	p.Gly156Arg	p.G156R	ENST00000324306	NM_003439.1	156	Ggg/Agg	0			1			A	G/R	uc003usk.1	protein_coding	YES	CCDS34698.1			466/1692									ovary(3)	3	c.(466-468)GGG>AGG			hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF63,SMART_domains:SM00431	zinc finger protein 36				ENSP00000323148		6-Mar									COSM3412577	6-Mar	.		ENST00000324306	Transcript			viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000106261	g.chr7:99621816G>A	13101			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=ZKSC1_HUMAN&rb=145&re=226&var=G156R	NA	getma.org/?cm=var&var=hg19,7,99621816,G,A&fts=all	G156R	2.485	medium	1																																		ZKSCAN1_uc003usj.2_Missense_Mutation_p.G155R|ZKSCAN1_uc003usl.1_Missense_Mutation_p.G120R|ZKSCAN1_uc003usm.1_Intron	1	1		benign(0.231)	p.G156R	NM_003439	NP_003430		deleterious(0.04)	1	ZKSC1_HUMAN	ZKSCAN1	HGNC	P17029	ZKSC1_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		E9PC66_HUMAN,C9JRM9_HUMAN,B3KRF7_HUMAN		3	685	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		UPI00000726DD	156					SNV	ZKSCAN1,missense_variant,p.Gly156Arg,ENST00000324306,NM_003439.1,NM_001287055.1;ZKSCAN1,missense_variant,p.Gly120Arg,ENST00000426572,NM_001287054.1;ZKSCAN1,intron_variant,,ENST00000535170,;ZKSCAN1,downstream_gene_variant,,ENST00000432317,;ZKSCAN1,non_coding_transcript_exon_variant,,ENST00000482979,;	uc003usk.1	c.466G>A	700/9418	2	2			c.466G>A						7	SNP	c.(466-468)GGG>AGG	41	41			ovary(3)	3	Broad	zinc finger protein 36			99621816		0.507	ENSG00000106261	17427	g.chr7:99621816G>A	viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							68.449316	KEEP	24	11	-1	110	70	24	11	-1	89.750651	110	70	0.165	1	0	0	0	0	1	0	0	0	2.485	medium		0	A			ZKSCAN1_uc003usj.2_Missense_Mutation_p.G155R|ZKSCAN1_uc003usl.1_Missense_Mutation_p.G120R|ZKSCAN1_uc003usm.1_Intron	72	GBM-06-0876-TP	p.G156R	G	GCTCGCAAGGGGGATGGTGCC	NM_003439	NP_003430	99621816	P17029	ZKSC1_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.129)		3	685	+	A	A	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		Missense_Mutation	156						
ZKSCAN2	0	broad.mit.edu	GRCh37	16	25251946	25251946	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs148950715	byFrequency	TCGA-14-0740-01	TCGA-14-0740-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328086.7:c.2095G>A	p.Asp699Asn	p.D699N	ENST00000328086	NM_001012981.4	699	Gac/Aac	0	T:0.0005	T:0.0015	1	T:0		T	D/N	uc002dod.3	protein_coding	YES	CCDS32410.1			2095/2904									ovary(3)|breast(1)	4	c.(2095-2097)GAC>AAC			hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF206	zinc finger with KRAB and SCAN domains 2		T:0	T:0.0001	ENSP00000331626	T:0	7-Jul	7.41E-05	0.000481	0.000173	0.000116		1.50E-05			rs148950715,COSM3402208	7-Jul	common_variant		ENST00000328086	Transcript		T:0.0004	viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000155592	g.chr16:25251946C>T	25677			MODERATE		0.4	neutral	getma.org/?cm=msa&ty=f&p=ZKSC2_HUMAN&rb=583&re=782&var=D699N	NA	getma.org/?cm=var&var=hg19,16,25251946,C,T&fts=all	D699N	--	--	1																																		ZKSCAN2_uc010vcl.1_Missense_Mutation_p.D495N	0,1	1		benign(0.045)	p.D699N	NM_001012981	NP_001012999	T:0	tolerated(0.59)	0,1	ZKSC2_HUMAN	ZKSCAN2	HGNC	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)			7	2502	-			UPI0000229E7F	699					SNV	ZKSCAN2,missense_variant,p.Asp699Asn,ENST00000328086,NM_001012981.4;CTD-2547G23.2,downstream_gene_variant,,ENST00000569456,;ZKSCAN2,3_prime_UTR_variant,,ENST00000569150,;	uc002dod.3	c.2095G>A	2899/7523	2	2			c.2095G>A						16	SNP	c.(2095-2097)GAC>AAC	35	35			ovary(3)|breast(1)	4	Broad	zinc finger with KRAB and SCAN domains 2			25251946		0.418	ENSG00000155592	17428	g.chr16:25251946C>T	viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							182.201465	KEEP	38	26	-1	23	31	38	26	-1	182.38914	23	31	0.543103	1	0	0	0	0	1	0	0	0	--	--		0	T			ZKSCAN2_uc010vcl.1_Missense_Mutation_p.D495N	132	GBM-14-0740-TP	p.D699N	C	TTGCTGGGGTCGGTACTCTGG	NM_001012981	NP_001012999	25251946	Q63HK3	ZKSC2_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0378)	7	2502	-	T	T			Missense_Mutation	699						
ZKSCAN2	0	broad.mit.edu	GRCh37	16	25251329	25251329	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-27-1837-01	TCGA-27-1837-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328086.7:c.2712A>G	p.Glu904=	p.E904=	ENST00000328086	NM_001012981.4	904	gaA/gaG	0			1			C	E	uc002dod.3	protein_coding	YES	CCDS32410.1			2712/2904									ovary(3)|breast(1)	4	c.(2710-2712)GAA>GAG			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF206,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger with KRAB and SCAN domains 2				ENSP00000331626		7-Jul									COSM3402207	7-Jul	.		ENST00000328086	Transcript			viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000155592	g.chr16:25251329T>C	25677			LOW								--	--	1																																		ZKSCAN2_uc010vcl.1_Silent_p.E700E	1	1			p.E904E	NM_001012981	NP_001012999			1	ZKSC2_HUMAN	ZKSCAN2	HGNC	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)			7	3119	-			UPI0000229E7F	904			C2H2-type 5.		SNV	ZKSCAN2,synonymous_variant,p.=,ENST00000328086,NM_001012981.4;CTD-2547G23.2,downstream_gene_variant,,ENST00000569456,;ZKSCAN2,3_prime_UTR_variant,,ENST00000569150,;	uc002dod.3	c.2712A>G	3516/7523	3	3			c.2712A>G						16	SNP	c.(2710-2712)GAA>GAG	64	64			ovary(3)|breast(1)	4	Broad	zinc finger with KRAB and SCAN domains 2			25251329		0.458	ENSG00000155592	17428	g.chr16:25251329T>C	viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							170.229251	KEEP	22	29	-1	38	45	22	29	-1	171.483495	38	45	0.393701	1	0	0	0	0	0	0	1	0	--	--		0	C			ZKSCAN2_uc010vcl.1_Silent_p.E700E	196	GBM-27-1837-TP	p.E904E	T	TTCTCCGATGTTCTCGAAATC	NM_001012981	NP_001012999	25251329	Q63HK3	ZKSC2_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0378)	7	3119	-	C	C			Silent	904			C2H2-type 5.			
ZKSCAN3	0	broad.mit.edu	GRCh37	6	28333384	28333384	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-41-4097-01	TCGA-41-4097-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252211.2:c.939G>A	p.Arg313=	p.R313=	ENST00000252211	NM_024493.3	313	cgG/cgA	0			1			A	R	uc003nle.3	protein_coding		CCDS4650.1			939/1617									skin(2)	2	c.(937-939)CGG>CGA			hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF55,Superfamily_domains:SSF57667	zinc finger with KRAB and SCAN domains 3				ENSP00000252211		6-Jun									COSM3410871	6-Jun	.		ENST00000252211	Transcript			positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000189298	g.chr6:28333384G>A	13853			LOW								--	--	1																																		ZKSCAN3_uc010jrc.2_Silent_p.R313R|ZKSCAN3_uc003nlf.3_Silent_p.R165R|uc010jrd.2_5'Flank	1				p.R313R	NM_024493	NP_077819			1	ZKSC3_HUMAN	ZKSCAN3	HGNC	Q9BRR0	ZKSC3_HUMAN					6	1155	+			UPI000013CD4A	313					SNV	ZKSCAN3,synonymous_variant,p.=,ENST00000377255,NM_001242894.1;ZKSCAN3,synonymous_variant,p.=,ENST00000252211,NM_024493.3;ZKSCAN3,synonymous_variant,p.=,ENST00000341464,NM_001242895.1;	uc003nle.3	c.939G>A	1155/2294	1	1			c.939G>A						6	SNP	c.(937-939)CGG>CGA	51	51			skin(2)	2	Broad	zinc finger with KRAB and SCAN domains 3			28333384		0.493	ENSG00000189298	17429	g.chr6:28333384G>A	positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							-7.222914	KEEP	2	1	-1	41	26	2	1	-1	7.057555	41	26	0.046154	1	0	0	0	0	0	0	1	0	--	--		0	A			ZKSCAN3_uc010jrc.2_Silent_p.R313R|ZKSCAN3_uc003nlf.3_Silent_p.R165R|uc010jrd.2_5'Flank	257	GBM-41-4097-TP	p.R313R	G	GAGGGAGGCGGCACATCTGCC	NM_024493	NP_077819	28333384	Q9BRR0	ZKSC3_HUMAN	0			6	1155	+	A	A			Silent	313						
ZKSCAN4	387032	broad.mit.edu	GRCh37	6	28213024	28213024	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0876-01	TCGA-06-0876-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377294.2:c.1508T>C	p.Ile503Thr	p.I503T	ENST00000377294	NM_019110.3	503	aTt/aCt	0			1			G	I/T	uc003nks.1	protein_coding	YES	CCDS4647.1			1508/1638									ovary(1)	1	c.(1507-1509)ATT>ACT			Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF57,PROSITE_profiles:PS50157	zinc finger with KRAB and SCAN domains 4				ENSP00000366509		5-May									COSM2152085	5-May	.		ENST00000377294	Transcript			viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000187626	g.chr6:28213024A>G	13854			MODERATE		-0.945	neutral	getma.org/?cm=msa&ty=f&p=ZKSC4_HUMAN&rb=481&re=545&var=I503T	getma.org/pdb.php?prot=ZKSC4_HUMAN&from=501&to=526&var=I503T	getma.org/?cm=var&var=hg19,6,28213024,A,G&fts=all	I503T	--	--	1																																		ZKSCAN4_uc011dlb.1_Missense_Mutation_p.I348T	1	1		benign(0.054)	p.I503T	NM_019110	NP_061983		tolerated(0.18)	1	ZKSC4_HUMAN	ZKSCAN4	HGNC	Q969J2	ZKSC4_HUMAN			B7Z7H3_HUMAN		5	1752	-			UPI000013C355	503			C2H2-type 6.		SNV	ZKSCAN4,missense_variant,p.Ile503Thr,ENST00000377294,NM_019110.3;ZKSCAN4,missense_variant,p.Ile348Thr,ENST00000423974,;	uc003nks.1	c.1508T>C	1752/2375	3	3			c.1508T>C						6	SNP	c.(1507-1509)ATT>ACT	12	12			ovary(1)	1	Broad	zinc finger with KRAB and SCAN domains 4			28213024		0.428	ENSG00000187626	17430	g.chr6:28213024A>G	viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							242.452769	KEEP	39	30	-1	65	37	39	30	-1	243.69254	65	37	0.408284	1	0	0	0	0	1	0	0	0	--	--		0	G			ZKSCAN4_uc011dlb.1_Missense_Mutation_p.I348T	72	GBM-06-0876-TP	p.I503T	A	CTGATGTTCAATAAGACTTCT	NM_019110	NP_061983	28213024	Q969J2	ZKSC4_HUMAN	0			5	1752	-	G	G			Missense_Mutation	503			C2H2-type 6.			
ZKSCAN5	23660	broad.mit.edu	GRCh37	7	99123821	99123821	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-06-5414-01	TCGA-06-5414-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394170.2:c.1158G>T	p.Arg386=	p.R386=	ENST00000394170	NM_014569.3	386	cgG/cgT	0			1			T	R	uc003uqv.2	protein_coding		CCDS5667.1			1158/2520									ovary(1)	1	c.(1156-1158)CGG>CGT			Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF214,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger with KRAB and SCAN domains 5				ENSP00000322872		7-Jun									COSM3412554	7-Jun	.		ENST00000326775	Transcript			viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000196652	g.chr7:99123821G>T	12867			LOW								--	--	1																																		ZKSCAN5_uc010lfx.2_Silent_p.R386R|ZKSCAN5_uc003uqw.2_Silent_p.R386R|ZKSCAN5_uc003uqx.2_Silent_p.R313R|ZKSCAN5_uc003uqy.2_Silent_p.R122R	1				p.R386R	NM_145102	NP_659570			1	ZKSC5_HUMAN	ZKSCAN5	HGNC	Q9Y2L8	ZKSC5_HUMAN			Q75MV2_HUMAN,J7M2L3_HUMAN,J7M2K9_HUMAN		6	1282	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		UPI000013C3AC	386			C2H2-type 2.		SNV	ZKSCAN5,synonymous_variant,p.=,ENST00000394170,NM_014569.3;ZKSCAN5,synonymous_variant,p.=,ENST00000326775,NM_145102.2;ZKSCAN5,synonymous_variant,p.=,ENST00000451158,;ZKSCAN5,3_prime_UTR_variant,,ENST00000454175,;	uc003uqv.2	c.1158G>T	1281/4178	2	2			c.1158G>T						7	SNP	c.(1156-1158)CGG>CGT	48	48			ovary(1)	1	Broad	zinc finger with KRAB and SCAN domains 5			99123821		0.537	ENSG00000196652	17431	g.chr7:99123821G>T	viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							-29.019797	KEEP	6	8	0.428571429	121	156	6	8	0.428571429	27.186724	121	156	0.052632	1	0	0	0	0	0	0	1	0	--	--		0	T			ZKSCAN5_uc010lfx.2_Silent_p.R386R|ZKSCAN5_uc003uqw.2_Silent_p.R386R|ZKSCAN5_uc003uqx.2_Silent_p.R313R|ZKSCAN5_uc003uqy.2_Silent_p.R122R	97	GBM-06-5414-TP	p.R386R	G	ACAATCAGCGGGTGCACCTCA	NM_145102	NP_659570	99123821	Q9Y2L8	ZKSC5_HUMAN	0			6	1282	+	T	T	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		Silent	386			C2H2-type 2.			
ZKSCAN7	0	broad.mit.edu	GRCh37	3	44611913	44611913	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-12-5301-01	TCGA-12-5301-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000273320.3:c.1311A>C	p.Lys437Asn	p.K437N	ENST00000273320	NM_018651.2	437	aaA/aaC	0			1			C	K/N	uc010hin.2	protein_coding	YES	CCDS2715.1			1311/2265									ovary(2)	2	c.(1309-1311)AAA>AAC			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF205,Superfamily_domains:SSF57667	zinc finger protein 167 isoform 1				ENSP00000273320		6-Jun									COSM3408680	6-Jun	.		ENST00000273320	Transcript			viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000196345	g.chr3:44611913A>C	12955			MODERATE		2.24	medium	getma.org/?cm=msa&ty=f&p=ZN167_HUMAN&rb=405&re=470&var=K437N	getma.org/pdb.php?prot=ZN167_HUMAN&from=425&to=450&var=K437N	getma.org/?cm=var&var=hg19,3,44611913,A,C&fts=all	K437N	--	--	1																																		ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Missense_Mutation_p.K286N|ZNF167_uc003cnj.2_Missense_Mutation_p.K437N|ZNF167_uc003cnk.2_Intron	1	1		probably_damaging(0.992)	p.K437N	NM_018651	NP_061121		deleterious(0)	1	ZKSC7_HUMAN	ZKSCAN7	HGNC	Q9P0L1	ZN167_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)			6	1699	+			UPI000013D9A9	437					SNV	ZKSCAN7,missense_variant,p.Lys437Asn,ENST00000273320,NM_018651.2,NM_001288590.1;ZKSCAN7,missense_variant,p.Lys437Asn,ENST00000426540,;ZKSCAN7,missense_variant,p.Lys286Asn,ENST00000447279,NM_001288592.1;ZKSCAN7,intron_variant,,ENST00000341840,NM_025169.1;ZKSCAN7,intron_variant,,ENST00000431636,NM_001288591.1;RP11-944L7.5,intron_variant,,ENST00000419137,;RP11-944L7.4,intron_variant,,ENST00000457331,;ZKSCAN7,downstream_gene_variant,,ENST00000418719,;ZKSCAN7,downstream_gene_variant,,ENST00000496563,;	uc010hin.2	c.1311A>C	1740/3477	3	3			c.1311A>C						3	SNP	c.(1309-1311)AAA>AAC	51	51			ovary(2)	2	Broad	zinc finger protein 167 isoform 1			44611913		0.473	ENSG00000196345	17482	g.chr3:44611913A>C	viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	Esophageal Squamous(121;907 1626 38429 48584 52774)			Esophageal Squamous(121;907 1626 38429 48584 52774)			126.761528	KEEP	14	25	-1	29	29	14	25	-1	127.690612	29	29	0.393617	1	0	0	0	0	1	0	0	0	--	--		0	C			ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Missense_Mutation_p.K286N|ZNF167_uc003cnj.2_Missense_Mutation_p.K437N|ZNF167_uc003cnk.2_Intron	131	GBM-12-5301-TP	p.K437N	A	CAGGGGAAAAACCCTATGAAT	NM_018651	NP_061121	44611913	Q9P0L1	ZN167_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)	6	1699	+	C	C			Missense_Mutation	437						
ZMAT4	79698	broad.mit.edu	GRCh37	8	40554861	40554861	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0743-01	TCGA-06-0743-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000297737.6:c.252C>A	p.Phe84Leu	p.F84L	ENST00000297737	NM_024645.2	84	ttC/ttA	0			1			T	F/L	uc003xnr.2	protein_coding	YES	CCDS34885.1			252/690									pancreas(1)|central_nervous_system(1)|skin(1)	3	c.(250-252)TTC>TTA			Pfam_domain:PF12874,PROSITE_patterns:PS00028,hmmpanther:PTHR23067,hmmpanther:PTHR23067:SF19,SMART_domains:SM00355,SMART_domains:SM00451,Superfamily_domains:SSF57667	zinc finger, matrin type 4 isoform a				ENSP00000297737		7-Apr									COSM3413021	7-Apr	.		ENST00000297737	Transcript				nucleus	DNA binding|zinc ion binding	ENSG00000165061	g.chr8:40554861G>T	25844			MODERATE		1.215	low	getma.org/?cm=msa&ty=f&p=ZMAT4_HUMAN&rb=55&re=119&var=F84L	getma.org/pdb.php?prot=ZMAT4_HUMAN&from=75&to=99&var=F84L	getma.org/?cm=var&var=hg19,8,40554861,G,T&fts=all	F84L	--	--	1																																		ZMAT4_uc003xns.2_Missense_Mutation_p.F84L	1	1		probably_damaging(0.996)	p.F84L	NM_024645	NP_078921		deleterious(0.05)	1	ZMAT4_HUMAN	ZMAT4	HGNC	Q9H898	ZMAT4_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.00722)		E5RIF5_HUMAN		4	398	-	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	UPI0000046C33	84			Matrin-type 2.		SNV	ZMAT4,missense_variant,p.Phe84Leu,ENST00000297737,NM_024645.2;ZMAT4,missense_variant,p.Phe84Leu,ENST00000315769,NM_001135731.1;ZMAT4,missense_variant,p.Phe84Leu,ENST00000519406,;ZMAT4,3_prime_UTR_variant,,ENST00000523188,;ZMAT4,3_prime_UTR_variant,,ENST00000523542,;ZMAT4,non_coding_transcript_exon_variant,,ENST00000518242,;ZMAT4,upstream_gene_variant,,ENST00000519806,;	uc003xnr.2	c.252C>A	399/2466	1	1			c.252C>A						8	SNP	c.(250-252)TTC>TTA	2	2			pancreas(1)|central_nervous_system(1)|skin(1)	3	Broad	zinc finger, matrin type 4 isoform a			40554861		0.498	ENSG00000165061	17435	g.chr8:40554861G>T		nucleus	DNA binding|zinc ion binding							154.891419	KEEP	20	35	0.363636364	26	53	20	35	0.363636364	155.71173	26	53	0.415385	1	0	0	0	0	1	0	0	0	--	--		0	T			ZMAT4_uc003xns.2_Missense_Mutation_p.F84L	65	GBM-06-0743-TP	p.F84L	G	CCGCTGAAGTGAATGACATGT	NM_024645	NP_078921	40554861	Q9H898	ZMAT4_HUMAN	0	LUSC - Lung squamous cell carcinoma(45;0.00722)		4	398	-	T	T	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	Missense_Mutation	84			Matrin-type 2.			
ZMIZ1	0	broad.mit.edu	GRCh37	10	81061939	81061939	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334512.5:c.2095C>T	p.Leu699Phe	p.L699F	ENST00000334512	NM_020338.3	699	Ctc/Ttc	0			1			T	L/F	uc001kaf.2	protein_coding	YES	CCDS7357.1			2095/3204									ovary(2)|breast(1)|skin(1)	4	c.(2095-2097)CTC>TTC			hmmpanther:PTHR10782:SF7,hmmpanther:PTHR10782	retinoic acid induced 17				ENSP00000334474		18/25									COSM3397264	18/25	.		ENST00000334512	Transcript			transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	ENSG00000108175	g.chr10:81061939C>T	16493			MODERATE		2.635	medium	getma.org/?cm=msa&ty=f&p=ZMIZ1_HUMAN&rb=502&re=701&var=L699F	NA	getma.org/?cm=var&var=hg19,10,81061939,C,T&fts=all	L699F	--	--	1																																		ZMIZ1_uc001kag.2_Missense_Mutation_p.L575F	1	1		probably_damaging(0.999)	p.L699F	NM_020338	NP_065071			1	ZMIZ1_HUMAN	ZMIZ1	HGNC	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		A0PJD4_HUMAN		18	2667	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		UPI0000161744	699					SNV	ZMIZ1,missense_variant,p.Leu699Phe,ENST00000334512,NM_020338.3;ZMIZ1,upstream_gene_variant,,ENST00000446377,;	uc001kaf.2	c.2095C>T	2667/7546	1	1			c.2095C>T						10	SNP	c.(2095-2097)CTC>TTC	1	1			ovary(2)|breast(1)|skin(1)	4	Broad	retinoic acid induced 17			81061939		0.627	ENSG00000108175	17437	g.chr10:81061939C>T	transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding							-24.392634	KEEP	1	2	-1	61	80	1	2	-1	6.798841	61	80	0.024194	1	0	0	0	0	1	0	0	0	--	--		0	T			ZMIZ1_uc001kag.2_Missense_Mutation_p.L575F	160	GBM-19-1790-TP	p.L699F	C	CAAGAAGCGCCTCCTGCCCGC	NM_020338	NP_065071	81061939	Q9ULJ6	ZMIZ1_HUMAN	0	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		18	2667	+	T	T	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Missense_Mutation	699						
ZMIZ1	0	broad.mit.edu	GRCh37	10	81058831	81058831	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-27-2521-01	TCGA-27-2521-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334512.5:c.1691T>G	p.Leu564Arg	p.L564R	ENST00000334512	NM_020338.3	564	cTc/cGc	0			1			G	L/R	uc001kaf.2	protein_coding	YES	CCDS7357.1			1691/3204									ovary(2)|breast(1)|skin(1)	4	c.(1690-1692)CTC>CGC			hmmpanther:PTHR10782:SF7,hmmpanther:PTHR10782	retinoic acid induced 17				ENSP00000334474		16/25									COSM3397263	16/25	.		ENST00000334512	Transcript			transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	ENSG00000108175	g.chr10:81058831T>G	16493			MODERATE		2.735	medium	getma.org/?cm=msa&ty=f&p=ZMIZ1_HUMAN&rb=502&re=701&var=L564R	NA	getma.org/?cm=var&var=hg19,10,81058831,T,G&fts=all	L564R	--	--	1																																		ZMIZ1_uc001kag.2_Missense_Mutation_p.L440R	1	1		probably_damaging(0.988)	p.L564R	NM_020338	NP_065071			1	ZMIZ1_HUMAN	ZMIZ1	HGNC	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		A0PJD4_HUMAN		16	2263	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		UPI0000161744	564					SNV	ZMIZ1,missense_variant,p.Leu564Arg,ENST00000334512,NM_020338.3;ZMIZ1,downstream_gene_variant,,ENST00000478357,;	uc001kaf.2	c.1691T>G	2263/7546	3	3			c.1691T>G						10	SNP	c.(1690-1692)CTC>CGC	3	3			ovary(2)|breast(1)|skin(1)	4	Broad	retinoic acid induced 17			81058831		0.647	ENSG00000108175	17437	g.chr10:81058831T>G	transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding							-1.505825	KEEP	2	1	-1	26	20	2	1	-1	6.70923	26	20	0.069767	1	0	0	0	0	1	0	0	0	--	--		0	G			ZMIZ1_uc001kag.2_Missense_Mutation_p.L440R	200	GBM-27-2521-TP	p.L564R	T	GAGCTGCGGCTCACATTCCCT	NM_020338	NP_065071	81058831	Q9ULJ6	ZMIZ1_HUMAN	0	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		16	2263	+	G	G	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Missense_Mutation	564						
ZMIZ1	0	broad.mit.edu	GRCh37	10	81066012	81066012	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-41-4097-01	TCGA-41-4097-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334512.5:c.2579A>C	p.Glu860Ala	p.E860A	ENST00000334512	NM_020338.3	860	gAg/gCg	0			1			C	E/A	uc001kaf.2	protein_coding	YES	CCDS7357.1			2579/3204									ovary(2)|breast(1)|skin(1)	4	c.(2578-2580)GAG>GCG			hmmpanther:PTHR10782:SF7,hmmpanther:PTHR10782	retinoic acid induced 17				ENSP00000334474		22/25									COSM3397265	22/25	.		ENST00000334512	Transcript			transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	ENSG00000108175	g.chr10:81066012A>C	16493			MODERATE		2.19	medium	getma.org/?cm=msa&ty=f&p=ZMIZ1_HUMAN&rb=788&re=987&var=E860A	NA	getma.org/?cm=var&var=hg19,10,81066012,A,C&fts=all	E860A	--	--	1																																		ZMIZ1_uc001kag.2_Missense_Mutation_p.E736A|ZMIZ1_uc010qlq.1_Missense_Mutation_p.E13A	1	1		benign(0.207)	p.E860A	NM_020338	NP_065071			1	ZMIZ1_HUMAN	ZMIZ1	HGNC	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		A0PJD4_HUMAN		22	3151	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		UPI0000161744	860					SNV	ZMIZ1,missense_variant,p.Glu860Ala,ENST00000334512,NM_020338.3;ZMIZ1,missense_variant,p.Glu13Ala,ENST00000446377,;	uc001kaf.2	c.2579A>C	3151/7546	3	3			c.2579A>C						10	SNP	c.(2578-2580)GAG>GCG	52	52			ovary(2)|breast(1)|skin(1)	4	Broad	retinoic acid induced 17			81066012		0.612	ENSG00000108175	17437	g.chr10:81066012A>C	transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding							60.748149	KEEP	4	15	-1	13	8	4	15	-1	60.770977	13	8	0.473684	1	0	0	0	0	1	0	0	0	--	--		0	C			ZMIZ1_uc001kag.2_Missense_Mutation_p.E736A|ZMIZ1_uc010qlq.1_Missense_Mutation_p.E13A	257	GBM-41-4097-TP	p.E860A	A	AATGTCATGGAGATGATCGCA	NM_020338	NP_065071	81066012	Q9ULJ6	ZMIZ1_HUMAN	0	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		22	3151	+	C	C	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Missense_Mutation	860						
ZMIZ1	57178		GRCh37	10	81065892	81065892	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000334512.5:c.2459G>T	p.Cys820Phe	p.C820F	ENST00000334512	NM_020338.3	820	tGc/tTc	0																																																																																																																																																																																																																																												
ZMIZ2	0	broad.mit.edu	GRCh37	7	44798997	44798997	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4208-01	TCGA-32-4208-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309315.4:c.931C>T	p.Pro311Ser	p.P311S	ENST00000309315	NM_031449.3	311	Ccc/Tcc	0			1			T	P/S	uc003tlr.2	protein_coding	YES	CCDS43576.1			931/2763									ovary(2)|large_intestine(2)|breast(1)	5	c.(931-933)CCC>TCC			hmmpanther:PTHR10782,hmmpanther:PTHR10782:SF38	zinc finger, MIZ-type containing 2 isoform 1				ENSP00000311778		19-Jul	8.27E-06					1.54E-05			rs778575280,COSM3412093	19-Jul	.		ENST00000309315	Transcript			positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	ENSG00000122515	g.chr7:44798997C>T	22229			MODERATE		2.125	medium	getma.org/?cm=msa&ty=f&p=ZMIZ2_HUMAN&rb=201&re=400&var=P311S	NA	getma.org/?cm=var&var=hg19,7,44798997,C,T&fts=all	P311S	--	--	1																																		ZMIZ2_uc003tlq.2_Missense_Mutation_p.P279S|ZMIZ2_uc003tls.2_Missense_Mutation_p.P311S|ZMIZ2_uc003tlt.2_5'Flank|ZMIZ2_uc010kyj.2_5'Flank	0,1	1		possibly_damaging(0.87)	p.P311S	NM_031449	NP_113637		deleterious(0)	0,1	ZMIZ2_HUMAN	ZMIZ2	HGNC	Q8NF64	ZMIZ2_HUMAN			C9JDA5_HUMAN,B3KR25_HUMAN		7	1054	+			UPI00001D747B	311			Pro-rich.		SNV	ZMIZ2,missense_variant,p.Pro311Ser,ENST00000309315,NM_031449.3;ZMIZ2,missense_variant,p.Pro311Ser,ENST00000441627,;ZMIZ2,missense_variant,p.Pro279Ser,ENST00000433667,;ZMIZ2,missense_variant,p.Pro279Ser,ENST00000413916,;ZMIZ2,missense_variant,p.Pro311Ser,ENST00000265346,NM_174929.2;ZMIZ2,downstream_gene_variant,,ENST00000457123,;ZMIZ2,upstream_gene_variant,,ENST00000492558,;ZMIZ2,upstream_gene_variant,,ENST00000478045,;ZMIZ2,upstream_gene_variant,,ENST00000463056,;ZMIZ2,upstream_gene_variant,,ENST00000480964,;ZMIZ2,downstream_gene_variant,,ENST00000492001,;ZMIZ2,downstream_gene_variant,,ENST00000416856,;	uc003tlr.2	c.931C>T	1054/5141	2	2			c.931C>T						7	SNP	c.(931-933)CCC>TCC	32	32			ovary(2)|large_intestine(2)|breast(1)	5	Broad	zinc finger, MIZ-type containing 2 isoform 1			44798997		0.687	ENSG00000122515	17438	g.chr7:44798997C>T	positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	NSCLC(20;604 852 1948 16908 50522)			NSCLC(20;604 852 1948 16908 50522)			-13.982682	KEEP	2	2	-1	53	54	2	2	-1	7.134371	53	54	0.042553	1	0	0	0	0	1	0	0	0	--	--		0	T			ZMIZ2_uc003tlq.2_Missense_Mutation_p.P279S|ZMIZ2_uc003tls.2_Missense_Mutation_p.P311S|ZMIZ2_uc003tlt.2_5'Flank|ZMIZ2_uc010kyj.2_5'Flank	243	GBM-32-4208-TP	p.P311S	C	GCACAGGCTGCCCCTGCAGCA	NM_031449	NP_113637	44798997	Q8NF64	ZMIZ2_HUMAN	0			7	1054	+	T	T			Missense_Mutation	311			Pro-rich.			
ZMYM1	79830	broad.mit.edu	GRCh37	1	35580838	35580841	+	frameshift_variant	Frame_Shift_Del	DEL	TCAG	TCAG	-			TCGA-06-5856-01	TCGA-06-5856-01	TCAG	TCAG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373330.1:c.3411_3414del	p.Ser1137ArgfsTer2	p.S1137Rfs*2	ENST00000373330		1136	aTCAGt/at	0			1			-	IS/X	uc001bym.2	protein_coding		CCDS41302.1			3407-3410/3429										0	c.(3406-3411)ATCAGTfs			hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF88	zinc finger, MYM domain containing 1				ENSP00000352920		10-Oct										10-Oct	.		ENST00000359858	Transcript				nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	ENSG00000197056	g.chr1:35580838_35580841delTCAG	26253	4		HIGH								--	--	1																																		ZMYM1_uc001byn.2_Frame_Shift_Del_p.I1136fs|ZMYM1_uc010ohu.1_Frame_Shift_Del_p.I1117fs|ZMYM1_uc001byo.2_Frame_Shift_Del_p.I776fs|ZMYM1_uc009vut.2_Frame_Shift_Del_p.I1061fs					p.I1136fs	NM_024772	NP_079048				ZMYM1_HUMAN	ZMYM1	HGNC	Q5SVZ6	ZMYM1_HUMAN			Q9H5R2_HUMAN,Q5SW02_HUMAN,Q5SVZ7_HUMAN		11	3555_3558	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	UPI0000203ED6	1136_1137					deletion	ZMYM1,frameshift_variant,p.Ser1137ArgfsTer2,ENST00000373330,;ZMYM1,frameshift_variant,p.Ser1137ArgfsTer2,ENST00000359858,NM_024772.3;ZMYM1,downstream_gene_variant,,ENST00000417119,;ZMYM1,non_coding_transcript_exon_variant,,ENST00000373329,;ZMYM1,downstream_gene_variant,,ENST00000488455,;ZMYM1,downstream_gene_variant,,ENST00000475654,;ZMYM1,downstream_gene_variant,,ENST00000463393,;	uc001bym.2	c.3407_3410delTCAG	3557-3560/4175	5	5			c.3407_3410delTCAG						1	DEL	c.(3406-3411)ATCAGTfs	45	45				0	Broad	zinc finger, MYM domain containing 1			35580841		0.348	ENSG00000197056	17440	g.chr1:35580838_35580841delTCAG		nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding																				0.29	1	1	0	1	0	0	0	0	0	--	--		0	-			ZMYM1_uc001byn.2_Frame_Shift_Del_p.I1136fs|ZMYM1_uc010ohu.1_Frame_Shift_Del_p.I1117fs|ZMYM1_uc001byo.2_Frame_Shift_Del_p.I776fs|ZMYM1_uc009vut.2_Frame_Shift_Del_p.I1061fs	101	GBM-06-5856-TP	p.I1136fs	TCAG	GAAAAGTTTATCAGTCAGATGAAA	NM_024772	NP_079048	35580838	Q5SVZ6	ZMYM1_HUMAN	0			11	3555_3558	+	-	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	Frame_Shift_Del	1136_1137						
ZMYM3	9203	broad.mit.edu	GRCh37	X	70469372	70469372	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-5417-01	TCGA-06-5417-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000353904.2:c.1409T>C	p.Leu470Pro	p.L470P	ENST00000353904	NM_005096.3	470	cTc/cCc	0			1			G	L/P	uc004dzh.1	protein_coding		CCDS14409.1			1409/4113									ovary(1)	1	c.(1408-1410)CTC>CCC			hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF32,Pfam_domain:PF06467,SMART_domains:SM00746	zinc finger protein 261				ENSP00000322845		25-Jul									COSM2153280	25-Jul	.		ENST00000314425	Transcript			multicellular organismal development	nucleus	DNA binding|zinc ion binding	ENSG00000147130	g.chrX:70469372A>G	13054			MODERATE		2.195	medium	getma.org/?cm=msa&ty=f&p=ZMYM3_HUMAN&rb=443&re=488&var=L470P	NA	getma.org/?cm=var&var=hg19,X,70469372,A,G&fts=all	L470P	--	--	1																																		BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.L470P|ZMYM3_uc004dzj.1_Missense_Mutation_p.L470P|ZMYM3_uc011mpu.1_Missense_Mutation_p.L201P|ZMYM3_uc004dzk.3_Missense_Mutation_p.L470P|ZMYM3_uc004dzl.3_Missense_Mutation_p.L470P|ZMYM3_uc004dzm.3_Missense_Mutation_p.L470P	1			possibly_damaging(0.858)	p.L470P	NM_201599	NP_963893		deleterious(0)	1	ZMYM3_HUMAN	ZMYM3	HGNC	Q14202	ZMYM3_HUMAN					7	1496	-	Renal(35;0.156)		UPI000013C339	470					SNV	ZMYM3,missense_variant,p.Leu470Pro,ENST00000373998,NM_001171162.1;ZMYM3,missense_variant,p.Leu472Pro,ENST00000373988,;ZMYM3,missense_variant,p.Leu470Pro,ENST00000353904,NM_005096.3;ZMYM3,missense_variant,p.Leu470Pro,ENST00000314425,NM_201599.2;ZMYM3,missense_variant,p.Leu472Pro,ENST00000373984,;ZMYM3,missense_variant,p.Leu472Pro,ENST00000373982,;ZMYM3,missense_variant,p.Leu470Pro,ENST00000373981,NM_001171163.1;ZMYM3,3_prime_UTR_variant,,ENST00000373978,;ZMYM3,non_coding_transcript_exon_variant,,ENST00000489332,;	uc004dzh.1	c.1409T>C	1540/5536	3	3			c.1409T>C						23	SNP	c.(1408-1410)CTC>CCC	52	52			ovary(1)	1	Broad	zinc finger protein 261			70469372		0.562	ENSG00000147130	17442	g.chrX:70469372A>G	multicellular organismal development	nucleus	DNA binding|zinc ion binding							43.60152	KEEP	8	4	-1	5	4	8	4	-1	43.694887	5	4	0.571429	1	0	0	0	0	1	0	0	0	--	--		0	G			BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.L470P|ZMYM3_uc004dzj.1_Missense_Mutation_p.L470P|ZMYM3_uc011mpu.1_Missense_Mutation_p.L201P|ZMYM3_uc004dzk.3_Missense_Mutation_p.L470P|ZMYM3_uc004dzl.3_Missense_Mutation_p.L470P|ZMYM3_uc004dzm.3_Missense_Mutation_p.L470P	99	GBM-06-5417-TP	p.L470P	A	CTCGTGGAAGAGGAGCTCAGG	NM_201599	NP_963893	70469372	Q14202	ZMYM3_HUMAN	0			7	1496	-	G	G	Renal(35;0.156)		Missense_Mutation	470						
ZMYM3	0	broad.mit.edu	GRCh37	X	70466243	70466243	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-19-4068-01	TCGA-19-4068-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314425.5:c.2532C>A	p.Val844=	p.V844=	ENST00000314425	NM_201599.2	844	gtC/gtA	0			1			T	V	uc004dzh.1	protein_coding		CCDS14409.1			2532/4113									ovary(1)	1	c.(2530-2532)GTC>GTA			hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF32	zinc finger protein 261				ENSP00000322845		15/25									COSM2156506	15/25	.		ENST00000314425	Transcript			multicellular organismal development	nucleus	DNA binding|zinc ion binding	ENSG00000147130	g.chrX:70466243G>T	13054			LOW								--	--	1																																		BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Silent_p.V844V|ZMYM3_uc004dzj.1_Silent_p.V832V	1				p.V844V	NM_201599	NP_963893			1	ZMYM3_HUMAN	ZMYM3	HGNC	Q14202	ZMYM3_HUMAN					15	2619	-	Renal(35;0.156)		UPI000013C339	844					SNV	ZMYM3,synonymous_variant,p.=,ENST00000373998,NM_001171162.1;ZMYM3,synonymous_variant,p.=,ENST00000373988,;ZMYM3,synonymous_variant,p.=,ENST00000353904,NM_005096.3;ZMYM3,synonymous_variant,p.=,ENST00000314425,NM_201599.2;ZMYM3,synonymous_variant,p.=,ENST00000373984,;ZMYM3,downstream_gene_variant,,ENST00000373982,;ZMYM3,downstream_gene_variant,,ENST00000373981,NM_001171163.1;ZMYM3,downstream_gene_variant,,ENST00000373978,;ZMYM3,non_coding_transcript_exon_variant,,ENST00000489332,;ZMYM3,upstream_gene_variant,,ENST00000470832,;	uc004dzh.1	c.2532C>A	2663/5536	2	2			c.2532C>A						23	SNP	c.(2530-2532)GTC>GTA	32	32			ovary(1)	1	Broad	zinc finger protein 261			70466243		0.597	ENSG00000147130	17442	g.chrX:70466243G>T	multicellular organismal development	nucleus	DNA binding|zinc ion binding							140.988002	KEEP	29	39	0.426470588	57	39	29	39	0.426470588	142.066856	57	39	0.401575	1	0	0	0	0	0	0	1	0	--	--		0	T			BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Silent_p.V844V|ZMYM3_uc004dzj.1_Silent_p.V832V	168	GBM-19-4068-TP	p.V844V	G	CCTTGCAGGAGACGCCCCGAT	NM_201599	NP_963893	70466243	Q14202	ZMYM3_HUMAN	0			15	2619	-	T	T	Renal(35;0.156)		Silent	844						
ZMYM4	9202		GRCh37	1	35836122	35836122	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000314607.6:c.1075G>T	p.Gly359Trp	p.G359W	ENST00000314607	NM_005095.2	359	Ggg/Tgg	0																																																																																																																																																																																																																																												
ZMYM5	9205	broad.mit.edu	GRCh37	13	20409775	20409775	+	downstream_gene_variant	3'Flank	SNP	A	A	G			TCGA-06-0174-01	TCGA-06-0174-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.				ENST00000382905	NM_001039650.2	365		0			1			G	C/R	uc010tcn.1	protein_coding					1093/2010										0	c.(1093-1095)TGC>CGC			Pfam_domain:PF06467,hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF30,SMART_domains:SM00746	zinc finger protein 237 isoform 3				ENSP00000337034		8-Jul									COSM3399268	8-Jul	.		ENST00000337963	Transcript				nucleus	zinc ion binding	ENSG00000132950	g.chr13:20409775A>G	13029			MODERATE		2.08	medium	getma.org/?cm=msa&ty=f&p=ZMYM5_HUMAN&rb=330&re=369&var=C365R	NA	getma.org/?cm=var&var=hg19,13,20409775,A,G&fts=all	C365R	--	--	1																																		ZMYM5_uc001umm.1_Missense_Mutation_p.C189R	1			probably_damaging(1)	p.C365R	NM_001142684	NP_001136156		deleterious(0)	1	ZMYM5_HUMAN	ZMYM5	HGNC	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	H0YH25_HUMAN		7	1358	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	UPI000178DE9C	365			MYM-type 3.		SNV	ZMYM5,missense_variant,p.Cys365Arg,ENST00000337963,NM_001142684.1;ZMYM5,missense_variant,p.Cys355Arg,ENST00000502168,;ZMYM5,downstream_gene_variant,,ENST00000382905,NM_001039650.2;ZMYM5,downstream_gene_variant,,ENST00000382907,NM_001039649.2;ZMYM5,non_coding_transcript_exon_variant,,ENST00000535942,;ZMYM5,non_coding_transcript_exon_variant,,ENST00000382909,;ZMYM5,downstream_gene_variant,,ENST00000467542,;ZMYM5,downstream_gene_variant,,ENST00000495534,;	uc010tcn.1	c.1093T>C	1358/3268	4	4			c.1093T>C						13	SNP	c.(1093-1095)TGC>CGC	24	24				0	Broad	zinc finger protein 237 isoform 3			20409775		0.363	ENSG00000132950	17444	g.chr13:20409775A>G		nucleus	zinc ion binding							190.356463	KEEP	29	38	-1	45	46	29	38	-1	190.947875	45	46	0.428571	1	0	0	0	0	1	0	0	0	--	--		0	G			ZMYM5_uc001umm.1_Missense_Mutation_p.C189R	37	GBM-06-0174-TP	p.C365R	A	TTATTAAAGCAATGGTTACTG	NM_001142684	NP_001136156	20409775	Q9UJ78	ZMYM5_HUMAN	0		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	7	1358	-	G	G		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	Missense_Mutation	365			MYM-type 3.			
ZNF101	0	broad.mit.edu	GRCh37	19	19790246	19790247	+	frameshift_variant,NMD_transcript_variant	Frame_Shift_Ins	INS	-	-	C			TCGA-28-5220-01	TCGA-28-5220-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318110.5:c.450dupC	p.Ile151HisfsTer5	p.I151Hfs*5	ENST00000318110		150	tcc/tCcc	0			1			C	S/SX	uc002nni.1	nonsense_mediated_decay		CCDS32971.1			448-449/1311									ovary(2)	2	c.(448-450)TCCfs			hmmpanther:PTHR24379	zinc finger protein 101				ENSP00000319716		5-Apr										5-Apr	.		ENST00000318110	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000181896	g.chr19:19790246_19790247insC	12881	2		HIGH								--	--	1																																		ZNF101_uc010ecg.1_Frame_Shift_Ins_p.S30fs|ZNF101_uc002nnj.1_Frame_Shift_Ins_p.S30fs					p.S150fs	NM_033204	NP_149981				ZN101_HUMAN	ZNF101	HGNC	Q8IZC7	ZN101_HUMAN			Q96F93_HUMAN,Q0VDG9_HUMAN,K7ENV8_HUMAN		4	558_559	+			UPI0000074138	150					insertion	ZNF101,frameshift_variant,p.Ile151HisfsTer5,ENST00000592502,;ZNF101,frameshift_variant,p.Ile31HisfsTer5,ENST00000415784,;ZNF101,frameshift_variant,p.Ile31HisfsTer5,ENST00000541458,;ZNF101,3_prime_UTR_variant,,ENST00000444249,NM_033204.2;ZNF101,upstream_gene_variant,,ENST00000586745,;ZNF101,frameshift_variant,p.Ile151HisfsTer5,ENST00000318110,;ZNF101,non_coding_transcript_exon_variant,,ENST00000415440,;ZNF101,upstream_gene_variant,,ENST00000585565,;	uc002nni.1	c.448_449insC	616-617/1830	5	5			c.448_449insC						19	INS	c.(448-450)TCCfs	14	14			ovary(2)	2	Broad	zinc finger protein 101			19790247		0.51	ENSG00000181896	17455	g.chr19:19790246_19790247insC	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding																				0.3	1	0	0	1	1	0	0	0	0	--	--		0	C			ZNF101_uc010ecg.1_Frame_Shift_Ins_p.S30fs|ZNF101_uc002nnj.1_Frame_Shift_Ins_p.S30fs	226	GBM-28-5220-TP	p.S150fs	-	TGGGAAAGCCTCCATTTCCCCC	NM_033204	NP_149981	19790246	Q8IZC7	ZN101_HUMAN	0			4	558_559	+	C	C			Frame_Shift_Ins	150						
ZNF107	51427	broad.mit.edu	GRCh37	7	64168851	64168851	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-5858-01	TCGA-06-5858-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395391.1:c.2169A>G	p.Glu723=	p.E723=	ENST00000395391		723	gaA/gaG	0			1			G	E	uc003ttd.2	protein_coding		CCDS5527.1			2169/2352									ovary(1)	1	c.(2167-2169)GAA>GAG			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF121,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 107				ENSP00000343443		5-May									COSM3412230	5-May	.		ENST00000344930	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000196247	g.chr7:64168851A>G	12887			LOW								--	--	1																																		ZNF107_uc003tte.2_Silent_p.E723E	1				p.E723E	NM_016220	NP_057304			1	ZN107_HUMAN	ZNF107	HGNC	Q9UII5	ZN107_HUMAN			Q9H3U2_HUMAN,C9JSF9_HUMAN		7	2955	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	UPI000000DBC2	723			C2H2-type 24.		SNV	ZNF107,synonymous_variant,p.=,ENST00000395391,;ZNF107,synonymous_variant,p.=,ENST00000423627,;ZNF107,synonymous_variant,p.=,ENST00000344930,NM_001013746.1,NM_001282360.1,NM_001282359.1;ZNF107,downstream_gene_variant,,ENST00000360117,NM_016220.3;	uc003ttd.2	c.2169A>G	2621/5174	4	4			c.2169A>G						7	SNP	c.(2167-2169)GAA>GAG	22	22			ovary(1)	1	Broad	zinc finger protein 107			64168851		0.348	ENSG00000196247	17456	g.chr7:64168851A>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							54.689965	KEEP	5	12	-1	9	17	5	12	-1	55.122887	9	17	0.390244	1	0	0	0	0	0	0	1	0	--	--		0	G			ZNF107_uc003tte.2_Silent_p.E723E	102	GBM-06-5858-TP	p.E723E	A	ACAAATGTGAAGAATGTGGCA	NM_016220	NP_057304	64168851	Q9UII5	ZN107_HUMAN	0			7	2955	+	G	G		Lung NSC(55;0.00948)|all_lung(88;0.0249)	Silent	723			C2H2-type 24.			
ZNF107	0	broad.mit.edu	GRCh37	7	64168371	64168371	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-2619-01	TCGA-19-2619-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344930.3:c.1689G>A	p.Gln563=	p.Q563=	ENST00000344930	NM_001013746.1	563	caG/caA	0			1			A	Q	uc003ttd.2	protein_coding		CCDS5527.1			1689/2352									ovary(1)	1	c.(1687-1689)CAG>CAA			Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF121,Superfamily_domains:SSF57667	zinc finger protein 107				ENSP00000343443		5-May									COSM2156164	5-May	.		ENST00000344930	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000196247	g.chr7:64168371G>A	12887			LOW								--	--	1																																		ZNF107_uc003tte.2_Silent_p.Q563Q	1				p.Q563Q	NM_016220	NP_057304			1	ZN107_HUMAN	ZNF107	HGNC	Q9UII5	ZN107_HUMAN			Q9H3U2_HUMAN,C9JSF9_HUMAN		7	2475	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	UPI000000DBC2	563			C2H2-type 18; atypical.		SNV	ZNF107,synonymous_variant,p.=,ENST00000395391,;ZNF107,synonymous_variant,p.=,ENST00000423627,;ZNF107,synonymous_variant,p.=,ENST00000344930,NM_001013746.1,NM_001282360.1,NM_001282359.1;ZNF107,downstream_gene_variant,,ENST00000360117,NM_016220.3;	uc003ttd.2	c.1689G>A	2141/5174	2	2			c.1689G>A						7	SNP	c.(1687-1689)CAG>CAA	32	32			ovary(1)	1	Broad	zinc finger protein 107			64168371		0.348	ENSG00000196247	17456	g.chr7:64168371G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							69.658872	KEEP	12	15	-1	55	44	12	15	-1	77.809028	55	44	0.226891	1	0	0	0	0	0	0	1	0	--	--		0	A			ZNF107_uc003tte.2_Silent_p.Q563Q	161	GBM-19-2619-TP	p.Q563Q	G	TTTTTAACCAGTCCTCAAACC	NM_016220	NP_057304	64168371	Q9UII5	ZN107_HUMAN	0			7	2475	+	A	A		Lung NSC(55;0.00948)|all_lung(88;0.0249)	Silent	563			C2H2-type 18; atypical.			
ZNF134	7693	broad.mit.edu	GRCh37	19	58131796	58131796	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396161.5:c.309G>A	p.Glu103=	p.E103=	ENST00000396161	NM_003435.3	103	gaG/gaA	0			1			A	E	uc002qpn.2	protein_coding	YES	CCDS42638.1			309/1284										0	c.(307-309)GAG>GAA			PROSITE_profiles:PS50157,hmmpanther:PTHR24399:SF4,hmmpanther:PTHR24399	zinc finger protein 134				ENSP00000379464		3-Mar									COSM3404712	3-Mar	.		ENST00000396161	Transcript				nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000213762	g.chr19:58131796G>A	12918			LOW								--	--	1																																		ZNF134_uc002qpo.2_5'UTR|ZNF211_uc010yhb.1_5'UTR	1	1			p.E103E	NM_003435	NP_003426			1	ZN134_HUMAN	ZNF134	HGNC	P52741	ZN134_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	M0QXC7_HUMAN		3	408	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	UPI0000071FFE	103					SNV	ZNF134,synonymous_variant,p.=,ENST00000396161,NM_003435.3;ZNF134,downstream_gene_variant,,ENST00000600883,;ZNF134,downstream_gene_variant,,ENST00000600344,;AC003682.16,upstream_gene_variant,,ENST00000599190,;ZNF134,non_coding_transcript_exon_variant,,ENST00000597975,;	uc002qpn.2	c.309G>A	619/3547	1	1			c.309G>A						19	SNP	c.(307-309)GAG>GAA	50	50				0	Broad	zinc finger protein 134			58131796		0.458	ENSG00000213762	17465	g.chr19:58131796G>A		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							-20.107543	KEEP	2	2	-1	58	64	2	2	-1	7.260808	58	64	0.034483	1	0	0	0	0	0	0	1	0	--	--		0	A			ZNF134_uc002qpo.2_5'UTR|ZNF211_uc010yhb.1_5'UTR	58	GBM-06-0644-TP	p.E103E	G	ACAGTATAGAGCAACCCTTAA	NM_003435	NP_003426	58131796	P52741	ZN134_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	408	+	A	A		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	Silent	103						
ZNF135	7694	broad.mit.edu	GRCh37	19	58579144	58579144	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0126-01	TCGA-06-0126-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000401053.4:c.1364T>G	p.Ile455Ser	p.I455S	ENST00000401053	NM_001164529.1	455	aTt/aGt	0			1			G	I/S	uc010yhq.1	protein_coding					1292/1977									ovary(1)	1	c.(1327-1329)ATT>AGT			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF245,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 135 isoform 2				ENSP00000321406		5-May									COSM2149411,COSM2149410	5-May	.		ENST00000313434	Transcript			regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	ENSG00000176293	g.chr19:58579144T>G	12919			MODERATE		0.89	low	getma.org/?cm=msa&ty=f&p=ZN135_HUMAN&rb=404&re=469&var=I431S	getma.org/pdb.php?prot=ZN135_HUMAN&from=424&to=449&var=I431S	getma.org/?cm=var&var=hg19,19,58579144,T,G&fts=all	I431S	--	--	1																																		ZNF135_uc002qre.2_Missense_Mutation_p.I431S|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Missense_Mutation_p.I389S|ZNF135_uc002qrg.2_Missense_Mutation_p.I401S|ZNF135_uc010yhr.1_Missense_Mutation_p.I252S	1,1			probably_damaging(0.959)	p.I443S	NM_003436	NP_003427		deleterious(0.02)	1,1	ZN135_HUMAN	ZNF135	HGNC	B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	Q8N9M3_HUMAN		5	1424	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	UPI00001984EC	443					SNV	ZNF135,missense_variant,p.Ile389Ser,ENST00000506786,;ZNF135,missense_variant,p.Ile455Ser,ENST00000401053,NM_001164529.1,NM_007134.1;ZNF135,missense_variant,p.Ile431Ser,ENST00000313434,NM_003436.3;ZNF135,missense_variant,p.Ile443Ser,ENST00000511556,;ZNF135,missense_variant,p.Ile431Ser,ENST00000439855,;ZNF135,intron_variant,,ENST00000359978,NM_001164530.1;RN7SL526P,upstream_gene_variant,,ENST00000469492,;ZNF135,intron_variant,,ENST00000515535,;	uc010yhq.1	c.1328T>G	1393/3025	3	3			c.1328T>G						19	SNP	c.(1327-1329)ATT>AGT	4	4			ovary(1)	1	Broad	zinc finger protein 135 isoform 2			58579144		0.547	ENSG00000176293	17466	g.chr19:58579144T>G	regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding							88.596978	KEEP	10	20	-1	41	54	10	20	-1	95.235891	41	54	0.252101	1	0	0	0	0	1	0	0	0	--	--		0	G			ZNF135_uc002qre.2_Missense_Mutation_p.I431S|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Missense_Mutation_p.I389S|ZNF135_uc002qrg.2_Missense_Mutation_p.I401S|ZNF135_uc010yhr.1_Missense_Mutation_p.I252S	13	GBM-06-0126-TP	p.I443S	T	CATCGGAGGATTCACACAGGA	NM_003436	NP_003427	58579144	B4DHH9	B4DHH9_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	1424	+	G	G		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	Missense_Mutation	443						
ZNF135	0	broad.mit.edu	GRCh37	19	58578313	58578313	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5947-01	TCGA-19-5947-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000313434.5:c.461C>T	p.Thr154Met	p.T154M	ENST00000313434	NM_003436.3	154	aCg/aTg	0			1			T	T/M	uc010yhq.1	protein_coding					461/1977									ovary(1)	1	c.(496-498)ACG>ATG			hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF245	zinc finger protein 135 isoform 2				ENSP00000321406		5-May	3.29E-05	0.000289				1.50E-05			rs746765542,COSM2156528,COSM2156527	5-May	.		ENST00000313434	Transcript			regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	ENSG00000176293	g.chr19:58578313C>T	12919			MODERATE		1.24	low	getma.org/?cm=msa&ty=f&p=ZN135_HUMAN&rb=55&re=227&var=T154M	NA	getma.org/?cm=var&var=hg19,19,58578313,C,T&fts=all	T154M	--	--	1																																		ZNF135_uc002qre.2_Missense_Mutation_p.T154M|ZNF135_uc002qrd.1_Missense_Mutation_p.T112M|ZNF135_uc002qrf.2_Missense_Mutation_p.T112M|ZNF135_uc002qrg.2_Missense_Mutation_p.T124M|ZNF135_uc010yhr.1_Translation_Start_Site	0,1,1			benign(0.33)	p.T166M	NM_003436	NP_003427		tolerated(0.06)	0,1,1	ZN135_HUMAN	ZNF135	HGNC	B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	Q8N9M3_HUMAN		5	593	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	UPI00001984EC	166					SNV	ZNF135,missense_variant,p.Thr112Met,ENST00000506786,;ZNF135,missense_variant,p.Thr178Met,ENST00000401053,NM_001164529.1,NM_007134.1;ZNF135,missense_variant,p.Thr154Met,ENST00000313434,NM_003436.3;ZNF135,missense_variant,p.Thr166Met,ENST00000511556,;ZNF135,missense_variant,p.Thr166Met,ENST00000359978,NM_001164530.1;ZNF135,missense_variant,p.Thr154Met,ENST00000439855,;RN7SL526P,upstream_gene_variant,,ENST00000469492,;ZNF135,intron_variant,,ENST00000515535,;	uc010yhq.1	c.497C>T	562/3025	2	2			c.497C>T						19	SNP	c.(496-498)ACG>ATG	36	36			ovary(1)	1	Broad	zinc finger protein 135 isoform 2			58578313		0.557	ENSG00000176293	17466	g.chr19:58578313C>T	regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding							56.449529	KEEP	10	12	-1	22	18	10	12	-1	57.538171	22	18	0.350877	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF135_uc002qre.2_Missense_Mutation_p.T154M|ZNF135_uc002qrd.1_Missense_Mutation_p.T112M|ZNF135_uc002qrf.2_Missense_Mutation_p.T112M|ZNF135_uc002qrg.2_Missense_Mutation_p.T124M|ZNF135_uc010yhr.1_Translation_Start_Site	169	GBM-19-5947-TP	p.T166M	C	CCTGTGAAGACGCCTGTTCTG	NM_003436	NP_003427	58578313	B4DHH9	B4DHH9_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	593	+	T	T		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	Missense_Mutation	166						
ZNF142	0	broad.mit.edu	GRCh37	2	219509392	219509392	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01	TCGA-06-6391-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000411696.2:c.1847G>A	p.Gly616Glu	p.G616E	ENST00000411696		616	gGg/gAg	0			1			T	G/E	uc002vin.2	protein_coding	YES	CCDS42817.1			1847/5064									breast(2)|ovary(1)|skin(1)	4	c.(1846-1848)GGG>GAG			hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF43	zinc finger protein 142				ENSP00000398798		9-Jul										9-Jul	.		ENST00000411696	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000115568	g.chr2:219509392C>T	12927			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=ZN142_HUMAN&rb=537&re=736&var=G616E	NA	getma.org/?cm=var&var=hg19,2,219509392,C,T&fts=all	G616E	--	--	1																																		ZNF142_uc002vil.2_Missense_Mutation_p.G577E|ZNF142_uc010fvt.2_Missense_Mutation_p.G453E|ZNF142_uc002vim.2_Missense_Mutation_p.G453E		1		benign(0.025)	p.G616E	NM_001105537	NP_001099007		tolerated(0.8)		ZN142_HUMAN	ZNF142	HGNC	P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	C9J055_HUMAN		8	2283	-		Renal(207;0.0474)	UPI000013D5FC	616					SNV	ZNF142,missense_variant,p.Gly616Glu,ENST00000411696,;ZNF142,missense_variant,p.Gly616Glu,ENST00000449707,NM_001105537.2;ZNF142,3_prime_UTR_variant,,ENST00000450765,;ZNF142,3_prime_UTR_variant,,ENST00000433921,;	uc002vin.2	c.1847G>A	2627/6034	1	1			c.1847G>A						2	SNP	c.(1846-1848)GGG>GAG	9	9			breast(2)|ovary(1)|skin(1)	4	Broad	zinc finger protein 142			219509392		0.607	ENSG00000115568	17472	g.chr2:219509392C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	Colon(170;867 1942 8995 15834 18053)			Colon(170;867 1942 8995 15834 18053)			47.75793	KEEP	12	6	-1	29	37	12	6	-1	52.720074	29	37	0.233766	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF142_uc002vil.2_Missense_Mutation_p.G577E|ZNF142_uc010fvt.2_Missense_Mutation_p.G453E|ZNF142_uc002vim.2_Missense_Mutation_p.G453E	107	GBM-06-6391-TP	p.G616E	C	CTGCATGGCCCCTTCTGGCTC	NM_001105537	NP_001099007	219509392	P52746	ZN142_HUMAN	0		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	2283	-	T	T		Renal(207;0.0474)	Missense_Mutation	616						
ZNF142	0	broad.mit.edu	GRCh37	2	219507508	219507508	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01	TCGA-19-2623-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000411696.2:c.3731G>A	p.Arg1244His	p.R1244H	ENST00000411696		1244	cGc/cAc	0	T:0.0007		1			T	R/H	uc002vin.2	protein_coding	YES	CCDS42817.1			3731/5064									breast(2)|ovary(1)|skin(1)	4	c.(3730-3732)CGC>CAC			Pfam_domain:PF13894,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF43,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 142			T:0	ENSP00000398798		9-Jul	4.13E-05	0.000306	8.64E-05			1.50E-05			rs200398690,COSM3407575,COSM3407574	9-Jul	.		ENST00000411696	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000115568	g.chr2:219507508C>T	12927			MODERATE		1.295	low	getma.org/?cm=msa&ty=f&p=ZN142_HUMAN&rb=1208&re=1271&var=R1244H	NA	getma.org/?cm=var&var=hg19,2,219507508,C,T&fts=all	R1244H	--	--	1																																		ZNF142_uc002vil.2_Missense_Mutation_p.R1205H|ZNF142_uc010fvt.2_Missense_Mutation_p.R1081H|ZNF142_uc002vim.2_Missense_Mutation_p.R1081H	0,1,1	1		possibly_damaging(0.812)	p.R1244H	NM_001105537	NP_001099007		deleterious(0)	0,1,1	ZN142_HUMAN	ZNF142	HGNC	P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	C9J055_HUMAN		8	4167	-		Renal(207;0.0474)	UPI000013D5FC	1244			C2H2-type 18.		SNV	ZNF142,missense_variant,p.Arg1244His,ENST00000411696,;ZNF142,missense_variant,p.Arg1244His,ENST00000449707,NM_001105537.2;ZNF142,3_prime_UTR_variant,,ENST00000450765,;ZNF142,3_prime_UTR_variant,,ENST00000433921,;	uc002vin.2	c.3731G>A	4511/6034	2	2			c.3731G>A						2	SNP	c.(3730-3732)CGC>CAC	31	31			breast(2)|ovary(1)|skin(1)	4	Broad	zinc finger protein 142			219507508		0.542	ENSG00000115568	17472	g.chr2:219507508C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	Colon(170;867 1942 8995 15834 18053)			Colon(170;867 1942 8995 15834 18053)			263.249859	KEEP	55	46	-1	95	92	55	46	-1	267.853546	95	92	0.356863	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF142_uc002vil.2_Missense_Mutation_p.R1205H|ZNF142_uc010fvt.2_Missense_Mutation_p.R1081H|ZNF142_uc002vim.2_Missense_Mutation_p.R1081H	163	GBM-19-2623-TP	p.R1244H	C	CCGGTGCAAGCGCAGTTTCGA	NM_001105537	NP_001099007	219507508	P52746	ZN142_HUMAN	0		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	4167	-	T	T		Renal(207;0.0474)	Missense_Mutation	1244			C2H2-type 18.			
ZNF142	0	broad.mit.edu	GRCh37	2	219503257	219503257	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5214-01	TCGA-28-5214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000411696.2:c.4869C>T	p.Cys1623=	p.C1623=	ENST00000411696		1623	tgC/tgT	0			1			A	C	uc002vin.2	protein_coding	YES	CCDS42817.1			4869/5064									breast(2)|ovary(1)|skin(1)	4	c.(4867-4869)TGC>TGT			Gene3D:3.30.160.60,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF43,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 142				ENSP00000398798		9-Sep									COSM3407573,COSM3407572	9-Sep	.		ENST00000411696	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000115568	g.chr2:219503257G>A	12927			LOW								--	--	1																																		ZNF142_uc002vil.2_Silent_p.C1584C|ZNF142_uc010fvt.2_Silent_p.C1460C|ZNF142_uc002vim.2_Silent_p.C1460C	1,1	1			p.C1623C	NM_001105537	NP_001099007			1,1	ZN142_HUMAN	ZNF142	HGNC	P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	C9J055_HUMAN		10	5305	-		Renal(207;0.0474)	UPI000013D5FC	1623			C2H2-type 31.		SNV	ZNF142,synonymous_variant,p.=,ENST00000411696,;ZNF142,synonymous_variant,p.=,ENST00000449707,NM_001105537.2;PLCD4,downstream_gene_variant,,ENST00000450993,NM_032726.3;PLCD4,downstream_gene_variant,,ENST00000432688,;PLCD4,downstream_gene_variant,,ENST00000417849,;PLCD4,downstream_gene_variant,,ENST00000457773,;RP11-548H3.1,upstream_gene_variant,,ENST00000607946,;ZNF142,3_prime_UTR_variant,,ENST00000450765,;ZNF142,3_prime_UTR_variant,,ENST00000433921,;PLCD4,downstream_gene_variant,,ENST00000459791,;PLCD4,downstream_gene_variant,,ENST00000473443,;PLCD4,downstream_gene_variant,,ENST00000483685,;PLCD4,downstream_gene_variant,,ENST00000465713,;PLCD4,downstream_gene_variant,,ENST00000484718,;PLCD4,downstream_gene_variant,,ENST00000497482,;PLCD4,downstream_gene_variant,,ENST00000458239,;	uc002vin.2	c.4869C>T	5649/6034	2	2			c.4869C>T						2	SNP	c.(4867-4869)TGC>TGT	21	21			breast(2)|ovary(1)|skin(1)	4	Broad	zinc finger protein 142			219503257		0.607	ENSG00000115568	17472	g.chr2:219503257G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	Colon(170;867 1942 8995 15834 18053)			Colon(170;867 1942 8995 15834 18053)			-20.004529	KEEP	2	3	-1	67	84	2	3	-1	7.078665	67	84	0.034783	1	0	0	0	0	0	0	1	0	--	--		0	A			ZNF142_uc002vil.2_Silent_p.C1584C|ZNF142_uc010fvt.2_Silent_p.C1460C|ZNF142_uc002vim.2_Silent_p.C1460C	221	GBM-28-5214-TP	p.C1623C	G	TGCAGAGGCGGCAAAAGAAGG	NM_001105537	NP_001099007	219503257	P52746	ZN142_HUMAN	0		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	10	5305	-	A	A		Renal(207;0.0474)	Silent	1623			C2H2-type 31.			
ZNF155	7711	broad.mit.edu	GRCh37	19	44500816	44500816	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-02-2483-01	TCGA-02-2483-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000407951.2:c.840C>A	p.Phe280Leu	p.F280L	ENST00000407951	NM_001260488.1	280	ttC/ttA	0			1			A	F/L	uc002oxy.1	protein_coding		CCDS12634.1			807/1617									large_intestine(1)|ovary(1)	2	c.(805-807)TTC>TTA			Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24402:SF176,hmmpanther:PTHR24402,PROSITE_profiles:PS50157	zinc finger protein 155				ENSP00000270014		5-May									COSM3404355	5-May	.		ENST00000270014	Transcript				nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000204920	g.chr19:44500816C>A	12940			MODERATE		1.765	low	getma.org/?cm=msa&ty=f&p=ZN155_HUMAN&rb=226&re=291&var=F269L	getma.org/pdb.php?prot=ZN155_HUMAN&from=246&to=271&var=F269L	getma.org/?cm=var&var=hg19,19,44500816,C,A&fts=all	F269L	--	--	1																																		ZNF155_uc002oxz.1_Missense_Mutation_p.F269L|ZNF155_uc010xwt.1_Missense_Mutation_p.F280L	1			probably_damaging(0.999)	p.F269L	NM_003445	NP_003436		deleterious(0)	1	ZN155_HUMAN	ZNF155	HGNC	Q12901	ZN155_HUMAN			Q16646_HUMAN,K7ENV6_HUMAN,K7ELA0_HUMAN,K7EJJ6_HUMAN		5	1012	+		Prostate(69;0.0352)	UPI00001D873E	269			C2H2-type 4.		SNV	ZNF155,missense_variant,p.Phe269Leu,ENST00000270014,NM_198089.2,NM_001260487.1;ZNF155,missense_variant,p.Phe280Leu,ENST00000407951,NM_001260488.1;ZNF155,missense_variant,p.Phe269Leu,ENST00000590615,NM_003445.3,NM_001260486.1;ZNF155,downstream_gene_variant,,ENST00000590411,;ZNF155,downstream_gene_variant,,ENST00000591532,;ZNF155,downstream_gene_variant,,ENST00000586454,;RP11-15A1.7,downstream_gene_variant,,ENST00000586860,;RP11-15A1.7,downstream_gene_variant,,ENST00000589021,;	uc002oxy.1	c.807C>A	935/2596	2	2			c.807C>A						19	SNP	c.(805-807)TTC>TTA	43	43			large_intestine(1)|ovary(1)	2	Broad	zinc finger protein 155			44500816		0.398	ENSG00000204920	17477	g.chr19:44500816C>A		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	NSCLC(61;554 1277 20909 42067 42312)			NSCLC(61;554 1277 20909 42067 42312)			-50.421945	KEEP	2	8	0.8	137	159	2	8	0.8	18.577557	137	159	0.034247	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF155_uc002oxz.1_Missense_Mutation_p.F269L|ZNF155_uc010xwt.1_Missense_Mutation_p.F280L	6	GBM-02-2483-TP	p.F269L	C	GGAAGGCCTTCATTCATGATT	NM_003445	NP_003436	44500816	Q12901	ZN155_HUMAN	0			5	1012	+	A	A		Prostate(69;0.0352)	Missense_Mutation	269			C2H2-type 4.			
ZNF157	0	broad.mit.edu	GRCh37	X	47272290	47272290	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01	TCGA-28-2509-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377073.3:c.818C>T	p.Pro273Leu	p.P273L	ENST00000377073	NM_003446.3	273	cCc/cTc	0			1			T	P/L	uc004dhr.1	protein_coding	YES	CCDS14278.1			818/1521										0	c.(817-819)CCC>CTC			PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF34,hmmpanther:PTHR24377,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	zinc finger protein 157				ENSP00000366273		4-Apr	1.65E-05			0.000314					rs774229424,COSM3406390	4-Apr	.		ENST00000377073	Transcript			negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000147117	g.chrX:47272290C>T	12942			MODERATE		2.27	medium	getma.org/?cm=msa&ty=f&p=ZN157_HUMAN&rb=240&re=304&var=P273L	getma.org/pdb.php?prot=ZN157_HUMAN&from=260&to=284&var=P273L	getma.org/?cm=var&var=hg19,X,47272290,C,T&fts=all	P273L	--	--	1																																			0,1	1		probably_damaging(1)	p.P273L	NM_003446	NP_003437		deleterious(0.01)	0,1	ZN157_HUMAN	ZNF157	HGNC	P51786	ZN157_HUMAN					4	887	+			UPI00001AE9ED	273					SNV	ZNF157,missense_variant,p.Pro273Leu,ENST00000377073,NM_003446.3;	uc004dhr.1	c.818C>T	904/2318	2	2			c.818C>T						23	SNP	c.(817-819)CCC>CTC	18	18				0	Broad	zinc finger protein 157			47272290		0.448	ENSG00000147117	17478	g.chrX:47272290C>T	negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							95.566448	KEEP	16	23	-1	23	47	16	23	-1	97.805521	23	47	0.336842	1	0	0	0	0	1	0	0	0	--	--		0	T				211	GBM-28-2509-TP	p.P273L	C	GGGGAGAAACCCTATGAATGT	NM_003446	NP_003437	47272290	P51786	ZN157_HUMAN	0			4	887	+	T	T			Missense_Mutation	273						
ZNF157	0	broad.mit.edu	GRCh37	X	47272323	47272323	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01	TCGA-28-5209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377073.3:c.851G>A	p.Arg284His	p.R284H	ENST00000377073	NM_003446.3	284	cGt/cAt	0			1			A	R/H	uc004dhr.1	protein_coding	YES	CCDS14278.1			851/1521										0	c.(850-852)CGT>CAT			PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF34,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 157				ENSP00000366273		4-Apr	2.47E-05		0.000231						rs760600482,COSM3406391	4-Apr	.		ENST00000377073	Transcript			negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000147117	g.chrX:47272323G>A	12942			MODERATE		0.99	low	getma.org/?cm=msa&ty=f&p=ZN157_HUMAN&rb=240&re=304&var=R284H	getma.org/pdb.php?prot=ZN157_HUMAN&from=260&to=284&var=R284H	getma.org/?cm=var&var=hg19,X,47272323,G,A&fts=all	R284H	--	--	1																																			0,1	1		possibly_damaging(0.751)	p.R284H	NM_003446	NP_003437		tolerated(0.53)	0,1	ZN157_HUMAN	ZNF157	HGNC	P51786	ZN157_HUMAN					4	920	+			UPI00001AE9ED	284			C2H2-type 5.		SNV	ZNF157,missense_variant,p.Arg284His,ENST00000377073,NM_003446.3;	uc004dhr.1	c.851G>A	937/2318	2	2			c.851G>A						23	SNP	c.(850-852)CGT>CAT	17	17				0	Broad	zinc finger protein 157			47272323		0.443	ENSG00000147117	17478	g.chrX:47272323G>A	negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							101.637364	KEEP	15	21	-1	18	29	15	21	-1	101.971314	18	29	0.43038	1	0	0	0	0	1	0	0	0	--	--		0	A				218	GBM-28-5209-TP	p.R284H	G	AAAACATTTCGTGTAAAGATA	NM_003446	NP_003437	47272323	P51786	ZN157_HUMAN	0			4	920	+	A	A			Missense_Mutation	284			C2H2-type 5.			
ZNF165	7718	broad.mit.edu	GRCh37	6	28053436	28053436	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0209-01	TCGA-06-0209-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377325.1:c.178T>C	p.Ser60Pro	p.S60P	ENST00000377325	NM_003447.3	60	Tct/Cct	0			1			C	S/P	uc003nkg.2	protein_coding	YES	CCDS4643.1			178/1458										0	c.(178-180)TCT>CCT			Superfamily_domains:SSF47353,SMART_domains:SM00431,Pfam_domain:PF02023,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF61,PROSITE_profiles:PS50804	zinc finger protein 165				ENSP00000366542		4-Feb									COSM3410864,COSM3410865	4-Feb	.		ENST00000377325	Transcript			viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000197279	g.chr6:28053436T>C	12953			MODERATE		2.865	medium	getma.org/?cm=msa&ty=f&p=ZN165_HUMAN&rb=43&re=138&var=S60P	getma.org/pdb.php?prot=ZN165_HUMAN&from=43&to=138&var=S60P	getma.org/?cm=var&var=hg19,6,28053436,T,C&fts=all	S60P	--	--	1																																		ZNF165_uc003nkh.2_Missense_Mutation_p.S60P|ZNF165_uc003nki.3_Missense_Mutation_p.S60P	1,1	1		possibly_damaging(0.761)	p.S60P	NM_003447	NP_003438		deleterious(0.02)	1,1	ZN165_HUMAN	ZNF165	HGNC	P49910	ZN165_HUMAN			Q53Z40_HUMAN		3	1262	+			UPI000000129B	60					SNV	ZNF165,missense_variant,p.Ser60Pro,ENST00000377325,NM_003447.3;RP1-313I6.12,upstream_gene_variant,,ENST00000605945,;	uc003nkg.2	c.178T>C	734/2107	3	3			c.178T>C						6	SNP	c.(178-180)TCT>CCT	62	62				0	Broad	zinc finger protein 165			28053436		0.537	ENSG00000197279	17481	g.chr6:28053436T>C	viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							162.505503	KEEP	27	28	-1	64	70	27	28	-1	169.460609	64	70	0.292818	1	0	0	0	0	1	0	0	0	--	--		0	C			ZNF165_uc003nkh.2_Missense_Mutation_p.S60P|ZNF165_uc003nki.3_Missense_Mutation_p.S60P	46	GBM-06-0209-TP	p.S60P	T	CTACCAGGATTCTCCTGGACC	NM_003447	NP_003438	28053436	P49910	ZN165_HUMAN	0			3	1262	+	C	C			Missense_Mutation	60						
ZNF165	0	broad.mit.edu	GRCh37	6	28056507	28056507	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-6391-01	TCGA-06-6391-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377325.1:c.717A>G	p.Lys239=	p.K239=	ENST00000377325	NM_003447.3	239	aaA/aaG	0			1			G	K	uc003nkg.2	protein_coding	YES	CCDS4643.1			717/1458										0	c.(715-717)AAA>AAG			hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF61	zinc finger protein 165				ENSP00000366542		4-Apr										4-Apr	.		ENST00000377325	Transcript			viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000197279	g.chr6:28056507A>G	12953			LOW								--	--	1																																		ZNF165_uc003nkh.2_Silent_p.K239K|ZNF165_uc003nki.3_Silent_p.K239K|ZSCAN12P1_uc003nkj.3_5'Flank		1			p.K239K	NM_003447	NP_003438				ZN165_HUMAN	ZNF165	HGNC	P49910	ZN165_HUMAN			Q53Z40_HUMAN		5	1801	+			UPI000000129B	239					SNV	ZNF165,synonymous_variant,p.=,ENST00000377325,NM_003447.3;ZSCAN12P1,upstream_gene_variant,,ENST00000529104,;ZSCAN12P1,upstream_gene_variant,,ENST00000406489,;	uc003nkg.2	c.717A>G	1273/2107	3	3			c.717A>G						6	SNP	c.(715-717)AAA>AAG	8	8				0	Broad	zinc finger protein 165			28056507		0.433	ENSG00000197279	17481	g.chr6:28056507A>G	viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							-31.502099	KEEP	4	0	-1	74	83	4	0	-1	6.375019	74	83	0.020408	1	0	0	0	0	0	0	1	0	--	--		0	G			ZNF165_uc003nkh.2_Silent_p.K239K|ZNF165_uc003nki.3_Silent_p.K239K|ZSCAN12P1_uc003nkj.3_5'Flank	107	GBM-06-6391-TP	p.K239K	A	AATGGGAAAAAGAATCAGGGG	NM_003447	NP_003438	28056507	P49910	ZN165_HUMAN	0			5	1801	+	G	G			Silent	239						
ZNF169	169841		GRCh37	9	97063382	97063382	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000395395.2:c.1542C>T	p.Tyr514=	p.Y514=	ENST00000395395	NM_194320.2	514	taC/taT	0																																																																																																																																																																																																																																												
ZNF17	0	broad.mit.edu	GRCh37	19	57931383	57931383	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-27-1838-01	TCGA-27-1838-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000601808.1:c.523A>G	p.Arg175Gly	p.R175G	ENST00000601808	NM_006959.2	175	Agg/Ggg	0			1			G	R/G	uc002qoo.1	protein_coding	YES	CCDS42636.1			523/1989									central_nervous_system(1)	1	c.(523-525)AGG>GGG			hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF166	zinc finger protein 17				ENSP00000471905		3-Mar									COSM3404709	3-Mar	.		ENST00000601808	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000186272	g.chr19:57931383A>G	12958			MODERATE		0.71	neutral	getma.org/?cm=msa&ty=f&p=ZNF17_HUMAN&rb=49&re=203&var=R175G	getma.org/pdb.php?prot=ZNF17_HUMAN&from=49&to=203&var=R175G	getma.org/?cm=var&var=hg19,19,57931383,A,G&fts=all	R175G	--	--	1																																		ZNF547_uc002qpm.3_Intron|ZNF17_uc002qop.1_Missense_Mutation_p.R177G	1	1		possibly_damaging(0.665)	p.R175G	NM_006959	NP_008890		tolerated(0.2)	1	ZNF17_HUMAN	ZNF17	HGNC	P17021	ZNF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)			3	754	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	UPI00001D8198	175					SNV	ZNF17,missense_variant,p.Arg177Gly,ENST00000307658,;ZNF17,missense_variant,p.Arg175Gly,ENST00000601808,NM_006959.2;AC004076.7,intron_variant,,ENST00000597410,;AC003002.6,downstream_gene_variant,,ENST00000596400,;AC003002.6,downstream_gene_variant,,ENST00000596617,;ZNF17,downstream_gene_variant,,ENST00000597350,;ZNF17,downstream_gene_variant,,ENST00000595206,;ZNF17,downstream_gene_variant,,ENST00000599867,;ZNF17,non_coding_transcript_exon_variant,,ENST00000602050,;ZNF17,downstream_gene_variant,,ENST00000595162,;	uc002qoo.1	c.523A>G	736/2524	3	3			c.523A>G						19	SNP	c.(523-525)AGG>GGG	11	11			central_nervous_system(1)	1	Broad	zinc finger protein 17			57931383		0.488	ENSG00000186272	17484	g.chr19:57931383A>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	Melanoma(149;1637 1853 29914 42869 44988)			Melanoma(149;1637 1853 29914 42869 44988)			168.217566	KEEP	34	27	-1	45	57	34	27	-1	169.731438	45	57	0.388489	1	0	0	0	0	1	0	0	0	--	--		0	G			ZNF547_uc002qpm.3_Intron|ZNF17_uc002qop.1_Missense_Mutation_p.R177G	197	GBM-27-1838-TP	p.R175G	A	GAAGCCACACAGGGACACTCA	NM_006959	NP_008890	57931383	P17021	ZNF17_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)	3	754	+	G	G		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	Missense_Mutation	175						
ZNF174	0	broad.mit.edu	GRCh37	16	3458790	3458790	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-2509-01	TCGA-28-2509-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268655.4:c.1095G>A	p.Arg365=	p.R365=	ENST00000268655	NM_003450.2	365	cgG/cgA	0			1			A	R	uc002cvc.2	protein_coding	YES	CCDS10504.1			1095/1224										0	c.(1093-1095)CGG>CGA			PROSITE_profiles:PS50157,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF10,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 174 isoform a				ENSP00000268655		3-Mar									COSM3402314	3-Mar	.		ENST00000268655	Transcript			negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	ENSG00000103343	g.chr16:3458790G>A	12963			LOW								--	--	1																																			1	1			p.R365R	NM_003450	NP_003441			1	ZN174_HUMAN	ZNF174	HGNC	Q15697	ZN174_HUMAN					3	1910	+			UPI000013C309	365			C2H2-type 2.		SNV	ZNF174,synonymous_variant,p.=,ENST00000268655,NM_003450.2;ZNF174,synonymous_variant,p.=,ENST00000571936,;ZNF174,downstream_gene_variant,,ENST00000344823,NM_001032292.2;ZNF174,downstream_gene_variant,,ENST00000575752,;ZNF174,downstream_gene_variant,,ENST00000572544,;NAA60,intron_variant,,ENST00000575785,;	uc002cvc.2	c.1095G>A	1680/2260	2	2			c.1095G>A						16	SNP	c.(1093-1095)CGG>CGA	43	43				0	Broad	zinc finger protein 174 isoform a			3458790		0.542	ENSG00000103343	17485	g.chr16:3458790G>A	negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding							-3.215005	KEEP	2	1	-1	19	30	2	1	-1	6.632587	19	30	0.061224	1	0	0	0	0	0	0	1	0	--	--		0	A				211	GBM-28-2509-TP	p.R365R	G	GCTTTGGGCGGCAGTCAACCC	NM_003450	NP_003441	3458790	Q15697	ZN174_HUMAN	0			3	1910	+	A	A			Silent	365			C2H2-type 2.			
ZNF180	7733	broad.mit.edu	GRCh37	19	44981674	44981674	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0166-01	TCGA-06-0166-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000221327.4:c.1024C>T	p.Gln342Ter	p.Q342*	ENST00000221327	NM_013256.4	342	Caa/Taa	0			1			A	Q/*	uc002ozf.3	protein_coding	YES	CCDS12639.1			1024/2079									ovary(2)	2	c.(1024-1026)CAA>TAA			Gene3D:3.30.160.60,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF27,Superfamily_domains:SSF57667	zinc finger protein 180				ENSP00000221327		5-May									COSM2150186	5-May	.		ENST00000221327	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000167384	g.chr19:44981674G>A	12970			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,19,44981674,G,A&fts=all	Q342*	--	--	1																																		ZNF180_uc002ozh.3_5'UTR|ZNF180_uc002ozi.3_Nonsense_Mutation_p.Q315*|ZNF180_uc002ozg.3_Nonsense_Mutation_p.Q341*|ZNF180_uc010ejm.2_Nonsense_Mutation_p.Q317*	1	1			p.Q342*	NM_013256	NP_037388			1	ZN180_HUMAN	ZNF180	HGNC	Q9UJW8	ZN180_HUMAN			K7EQX9_HUMAN,K7EQP0_HUMAN		5	1306	-		Prostate(69;0.0435)	UPI000013C7BD	342					SNV	ZNF180,stop_gained,p.Gln342Ter,ENST00000221327,NM_013256.4;ZNF180,stop_gained,p.Gln317Ter,ENST00000391956,NM_001278508.1;ZNF180,stop_gained,p.Gln315Ter,ENST00000592529,NM_001278509.1;ZNF180,downstream_gene_variant,,ENST00000586637,;ZNF180,downstream_gene_variant,,ENST00000591064,;ZNF180,downstream_gene_variant,,ENST00000587047,;AC069278.4,upstream_gene_variant,,ENST00000591684,;ZNF180,downstream_gene_variant,,ENST00000585514,;ZNF180,3_prime_UTR_variant,,ENST00000592095,NM_001288760.1;ZNF180,3_prime_UTR_variant,,ENST00000590088,NM_001288759.1;ZNF285B,downstream_gene_variant,,ENST00000561698,;ZNF285B,downstream_gene_variant,,ENST00000318605,;	uc002ozf.3	c.1024C>T	1306/3126	5	2			c.1024C>T						19	SNP	c.(1024-1026)CAA>TAA	46	46			ovary(2)	2	Broad	zinc finger protein 180			44981674		0.378	ENSG00000167384	17489	g.chr19:44981674G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	Esophageal Squamous(180;1353 2003 32862 46574 49854)			Esophageal Squamous(180;1353 2003 32862 46574 49854)			183.67484	KEEP	32	42	-1	67	78	32	42	-1	188.80153	67	78	0.33	1	0	0	0	0	0	1	0	0	--	--		0	A			ZNF180_uc002ozh.3_5'UTR|ZNF180_uc002ozi.3_Nonsense_Mutation_p.Q315*|ZNF180_uc002ozg.3_Nonsense_Mutation_p.Q341*|ZNF180_uc010ejm.2_Nonsense_Mutation_p.Q317*	31	GBM-06-0166-TP	p.Q342*	G	CTCATGTTTTGAGTAAGGGAG	NM_013256	NP_037388	44981674	Q9UJW8	ZN180_HUMAN	0			5	1306	-	A	A		Prostate(69;0.0435)	Nonsense_Mutation	342						
ZNF180	7733		GRCh37	19	44981361	44981361	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000221327.4:c.1337T>G	p.Phe446Cys	p.F446C	ENST00000221327	NM_013256.4	446	tTc/tGc	0																																																																																																																																																																																																																																												
ZNF181	339318	broad.mit.edu	GRCh37	19	35232200	35232200	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs143797666		TCGA-06-2570-01	TCGA-06-2570-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000492450.1:c.914T>G	p.Val305Gly	p.V305G	ENST00000492450		305	gTc/gGc	0		G:0	1	G:0		G	V/G	uc002nvu.3	protein_coding	YES	CCDS32990.2			914/1716									ovary(1)	1	c.(913-915)GTC>GGC			PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF110,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 181 isoform 1		G:0.002		ENSP00000420727	G:0	4-Apr	0.000519	0.000673	0.00104	0.00208		0.000285		0.000364	rs143797666,COSM565483,COSM3748052,COSM3748051	4-Apr	common_variant		ENST00000492450	Transcript		G:0.0006	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000197841	g.chr19:35232200T>G	12971			MODERATE		0.035	neutral	getma.org/?cm=msa&ty=f&p=ZN181_HUMAN&rb=275&re=336&var=V305G	getma.org/pdb.php?prot=ZN181_HUMAN&from=305&to=306&var=V305G	getma.org/?cm=var&var=hg19,19,35232200,T,G&fts=all	V305G	--	--	1																																		ZNF181_uc010xsa.1_Missense_Mutation_p.V304G|ZNF181_uc010xsb.1_Missense_Mutation_p.V304G|ZNF181_uc010xsc.1_Missense_Mutation_p.V240G	0,1,1,1	1		benign(0)	p.V305G	NM_001029997	NP_001025168	G:0.001	tolerated(0.33)	0,1,1,1	ZN181_HUMAN	ZNF181	HGNC	Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		B4DM69_HUMAN		4	1377	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		UPI000020207A	305			C2H2-type 3.		SNV	ZNF181,missense_variant,p.Val349Gly,ENST00000392232,;ZNF181,missense_variant,p.Val304Gly,ENST00000459757,NM_001029997.3,NM_001145665.1;ZNF181,missense_variant,p.Val305Gly,ENST00000492450,;ZNF181,downstream_gene_variant,,ENST00000595708,;ZNF181,downstream_gene_variant,,ENST00000599244,;ZNF181,downstream_gene_variant,,ENST00000593781,;ZNF181,non_coding_transcript_exon_variant,,ENST00000448715,;	uc002nvu.3	c.914T>G	1003/1894	3	3			c.914T>G						19	SNP	c.(913-915)GTC>GGC	56	56			ovary(1)	1	Broad	zinc finger protein 181 isoform 1			35232200		0.413	ENSG00000197841	17490	g.chr19:35232200T>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-43.032058	KEEP	2	2	-1	91	104	2	2	-1	6.558374	91	104	0.016043	1	0	0	0	0	1	0	0	0	--	--		0	G			ZNF181_uc010xsa.1_Missense_Mutation_p.V304G|ZNF181_uc010xsb.1_Missense_Mutation_p.V304G|ZNF181_uc010xsc.1_Missense_Mutation_p.V240G	91	GBM-06-2570-TP	p.V305G	T	TTTAGCCATGTCTCATCACTT	NM_001029997	NP_001025168	35232200	Q2M3W8	ZN181_HUMAN	0	LUSC - Lung squamous cell carcinoma(66;0.138)		4	1377	+	G	G	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		Missense_Mutation	305			C2H2-type 3.			
ZNF181	0	broad.mit.edu	GRCh37	19	35232200	35232200	+	missense_variant	Missense_Mutation	SNP	T	T	G	rs143797666		TCGA-12-3652-01	TCGA-12-3652-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000492450.1:c.914T>G	p.Val305Gly	p.V305G	ENST00000492450		305	gTc/gGc	0		G:0	1	G:0		G	V/G	uc002nvu.3	protein_coding	YES	CCDS32990.2			914/1716									ovary(1)	1	c.(913-915)GTC>GGC			PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF110,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 181 isoform 1		G:0.002		ENSP00000420727	G:0	4-Apr	0.000519	0.000673	0.00104	0.00208		0.000285		0.000364	rs143797666,COSM565483,COSM3748052,COSM3748051	4-Apr	common_variant		ENST00000492450	Transcript		G:0.0006	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000197841	g.chr19:35232200T>G	12971			MODERATE		0.035	neutral	getma.org/?cm=msa&ty=f&p=ZN181_HUMAN&rb=275&re=336&var=V305G	getma.org/pdb.php?prot=ZN181_HUMAN&from=305&to=306&var=V305G	getma.org/?cm=var&var=hg19,19,35232200,T,G&fts=all	V305G	--	--	1																																		ZNF181_uc010xsa.1_Missense_Mutation_p.V304G|ZNF181_uc010xsb.1_Missense_Mutation_p.V304G|ZNF181_uc010xsc.1_Missense_Mutation_p.V240G	0,1,1,1	1		benign(0)	p.V305G	NM_001029997	NP_001025168	G:0.001	tolerated(0.33)	0,1,1,1	ZN181_HUMAN	ZNF181	HGNC	Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		B4DM69_HUMAN		4	1377	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		UPI000020207A	305			C2H2-type 3.		SNV	ZNF181,missense_variant,p.Val349Gly,ENST00000392232,;ZNF181,missense_variant,p.Val304Gly,ENST00000459757,NM_001029997.3,NM_001145665.1;ZNF181,missense_variant,p.Val305Gly,ENST00000492450,;ZNF181,downstream_gene_variant,,ENST00000595708,;ZNF181,downstream_gene_variant,,ENST00000599244,;ZNF181,downstream_gene_variant,,ENST00000593781,;ZNF181,non_coding_transcript_exon_variant,,ENST00000448715,;	uc002nvu.3	c.914T>G	1003/1894	3	3			c.914T>G						19	SNP	c.(913-915)GTC>GGC	56	56			ovary(1)	1	Broad	zinc finger protein 181 isoform 1			35232200		0.413	ENSG00000197841	17490	g.chr19:35232200T>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-45.653043	KEEP	2	1	-1	100	104	2	1	-1	6.889013	100	104	0.015228	1	0	0	0	0	1	0	0	0	--	--		0	G			ZNF181_uc010xsa.1_Missense_Mutation_p.V304G|ZNF181_uc010xsb.1_Missense_Mutation_p.V304G|ZNF181_uc010xsc.1_Missense_Mutation_p.V240G	127	GBM-12-3652-TP	p.V305G	T	TTTAGCCATGTCTCATCACTT	NM_001029997	NP_001025168	35232200	Q2M3W8	ZN181_HUMAN	0	LUSC - Lung squamous cell carcinoma(66;0.138)		4	1377	+	G	G	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		Missense_Mutation	305			C2H2-type 3.			
ZNF181	0	broad.mit.edu	GRCh37	19	35232834	35232839	+	inframe_deletion	In_Frame_Del	DEL	ATATAA	ATATAA	-			TCGA-41-3393-01	TCGA-41-3393-01	ATATAA	ATATAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000492450.1:c.1550_1555delATAAAT	p.Tyr517_Lys518del	p.Y517_K518del	ENST00000492450		516	ccATATAAa/cca	0			1			-	PYK/P	uc002nvu.3	protein_coding	YES	CCDS32990.2			1548-1553/1716									ovary(1)	1	c.(1546-1554)CCATATAAA>CCA			PROSITE_profiles:PS50157,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF110,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 181 isoform 1				ENSP00000420727		4-Apr										4-Apr	.		ENST00000492450	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000197841	g.chr19:35232834_35232839delATATAA	12971	2		MODERATE								--	--	1																																		ZNF181_uc010xsa.1_In_Frame_Del_p.YK516del|ZNF181_uc010xsb.1_In_Frame_Del_p.YK516del|ZNF181_uc010xsc.1_In_Frame_Del_p.YK452del		1			p.YK517del	NM_001029997	NP_001025168				ZN181_HUMAN	ZNF181	HGNC	Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		B4DM69_HUMAN		4	2011_2016	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		UPI000020207A	517_518			C2H2-type 11.		deletion	ZNF181,inframe_deletion,p.Tyr561_Lys562del,ENST00000392232,;ZNF181,inframe_deletion,p.Tyr516_Lys517del,ENST00000459757,NM_001029997.3,NM_001145665.1;ZNF181,inframe_deletion,p.Tyr517_Lys518del,ENST00000492450,;ZNF181,downstream_gene_variant,,ENST00000595708,;ZNF181,downstream_gene_variant,,ENST00000599244,;ZNF181,downstream_gene_variant,,ENST00000593781,;ZNF181,non_coding_transcript_exon_variant,,ENST00000448715,;	uc002nvu.3	c.1548_1553delATATAA	1637-1642/1894	5	5			c.1548_1553delATATAA						19	DEL	c.(1546-1554)CCATATAAA>CCA	24	24			ovary(1)	1	Broad	zinc finger protein 181 isoform 1			35232839		0.388	ENSG00000197841	17490	g.chr19:35232834_35232839delATATAA	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding																				0.14	1	1	0	1	0	0	0	0	0	--	--		0	-			ZNF181_uc010xsa.1_In_Frame_Del_p.YK516del|ZNF181_uc010xsb.1_In_Frame_Del_p.YK516del|ZNF181_uc010xsc.1_In_Frame_Del_p.YK452del	255	GBM-41-3393-TP	p.YK517del	ATATAA	GAGAAAAGCCATATAAATGTAATGAG	NM_001029997	NP_001025168	35232834	Q2M3W8	ZN181_HUMAN	0	LUSC - Lung squamous cell carcinoma(66;0.138)		4	2011_2016	+	-	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		In_Frame_Del	517_518			C2H2-type 11.			
ZNF181	339318		GRCh37	19	35232341	35232341	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000492450.1:c.1055G>A	p.Arg352His	p.R352H	ENST00000492450		352	cGt/cAt	0																																																																																																																																																																																																																																												
ZNF182	0	broad.mit.edu	GRCh37	X	47842386	47842386	+	synonymous_variant	Silent	SNP	G	G	A	rs141215624	byFrequency	TCGA-12-5299-01	TCGA-12-5299-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305127.6:c.252C>T	p.Cys84=	p.C84=	ENST00000305127	NM_006962.1	84	tgC/tgT	0			1			A	C	uc004dir.2	protein_coding		CCDS35236.1			252/1920									ovary(2)|lung(1)	3	c.(250-252)TGC>TGT			PROSITE_profiles:PS50805,hmmpanther:PTHR24377:SF218,hmmpanther:PTHR24377,SMART_domains:SM00349	zinc finger protein 21 isoform 1				ENSP00000306351		7-Jun									COSM3406402,COSM3406401	7-Jun	.		ENST00000305127	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000147118	g.chrX:47842386G>A	13001			LOW								--	--	1																																		ZNF182_uc004dis.2_Silent_p.C65C|ZNF182_uc004dit.2_Silent_p.C84C|ZNF182_uc011mlu.1_Silent_p.C65C	1,1				p.C84C	NM_006962	NP_008893			1,1	ZN182_HUMAN	ZNF182	HGNC	P17025	ZN182_HUMAN					6	598	-			UPI0000211F7D	84			KRAB.		SNV	ZNF182,synonymous_variant,p.=,ENST00000396965,NM_001178099.1;ZNF182,synonymous_variant,p.=,ENST00000305127,NM_006962.1;ZNF182,synonymous_variant,p.=,ENST00000376943,NM_001007088.1;ZNF81,intron_variant,,ENST00000376950,;ZNF630,downstream_gene_variant,,ENST00000428463,;	uc004dir.2	c.252C>T	598/3573	2	2			c.252C>T						23	SNP	c.(250-252)TGC>TGT	46	46			ovary(2)|lung(1)	3	Broad	zinc finger protein 21 isoform 1			47842386		0.478	ENSG00000147118	17491	g.chrX:47842386G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-41.371599	KEEP	4	1	-1	113	96	4	1	-1	6.52626	113	96	0.02139	1	0	0	0	0	0	0	1	0	--	--		0	A			ZNF182_uc004dis.2_Silent_p.C65C|ZNF182_uc004dit.2_Silent_p.C84C|ZNF182_uc011mlu.1_Silent_p.C65C	130	GBM-12-5299-TP	p.C84C	G	CTTCTGCCGGGCATTCTTCTA	NM_006962	NP_008893	47842386	P17025	ZN182_HUMAN	0			6	598	-	A	A			Silent	84			KRAB.			
ZNF182	0	broad.mit.edu	GRCh37	X	47842806	47842806	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-19-5951-01	TCGA-19-5951-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000305127.6:c.78A>G	p.Leu26=	p.L26=	ENST00000305127	NM_006962.1	26	ctA/ctG	0			1			C	L	uc004dir.2	protein_coding		CCDS35236.1			78/1920									ovary(2)|lung(1)	3	c.(76-78)CTA>CTG			hmmpanther:PTHR24377:SF218,hmmpanther:PTHR24377,Superfamily_domains:0044637	zinc finger protein 21 isoform 1				ENSP00000306351		7-May									COSM2156622,COSM2156621	7-May	.		ENST00000305127	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000147118	g.chrX:47842806T>C	13001			LOW								--	--	1																																		ZNF182_uc004dis.2_Silent_p.L7L|ZNF182_uc004dit.2_Silent_p.L26L|ZNF182_uc011mlu.1_Silent_p.L7L|ZNF630_uc010nhz.1_RNA	1,1				p.L26L	NM_006962	NP_008893			1,1	ZN182_HUMAN	ZNF182	HGNC	P17025	ZN182_HUMAN					5	424	-			UPI0000211F7D	26					SNV	ZNF182,synonymous_variant,p.=,ENST00000396965,NM_001178099.1;ZNF182,synonymous_variant,p.=,ENST00000305127,NM_006962.1;ZNF182,synonymous_variant,p.=,ENST00000376943,NM_001007088.1;ZNF81,intron_variant,,ENST00000376950,;ZNF630,3_prime_UTR_variant,,ENST00000428463,;	uc004dir.2	c.78A>G	424/3573	3	3			c.78A>G						23	SNP	c.(76-78)CTA>CTG	14	14			ovary(2)|lung(1)	3	Broad	zinc finger protein 21 isoform 1			47842806		0.463	ENSG00000147118	17491	g.chrX:47842806T>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							244.978394	KEEP	30	45	-1	41	38	30	45	-1	245.05533	41	38	0.474453	1	0	0	0	0	0	0	1	0	--	--		0	C			ZNF182_uc004dis.2_Silent_p.L7L|ZNF182_uc004dit.2_Silent_p.L26L|ZNF182_uc011mlu.1_Silent_p.L7L|ZNF630_uc010nhz.1_RNA	171	GBM-19-5951-TP	p.L26L	T	CAAATGTCACTAGCCCCTGTA	NM_006962	NP_008893	47842806	P17025	ZN182_HUMAN	0			5	424	-	C	C			Silent	26						
ZNF182	7569		GRCh37	X	47836621	47836621	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000396965.1:c.865C>T	p.Pro289Ser	p.P289S	ENST00000396965	NM_001178099.1	289	Ccc/Tcc	0																																																																																																																																																																																																																																												
ZNF184	7738	broad.mit.edu	GRCh37	6	27420960	27420960	+	synonymous_variant	Silent	SNP	T	T	G			TCGA-06-0686-01	TCGA-06-0686-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000211936.6:c.378A>C	p.Ile126=	p.I126=	ENST00000211936	NM_007149.2	126	atA/atC	0			1			G	I	uc003njj.2	protein_coding	YES	CCDS4624.1			378/2256									ovary(1)	1	c.(376-378)ATA>ATC			hmmpanther:PTHR24375:SF108,hmmpanther:PTHR24375	zinc finger protein 184				ENSP00000211936		6-Jun									COSM2151546	6-Jun	.		ENST00000211936	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000096654	g.chr6:27420960T>G	12975			LOW								--	--	1																																		ZNF184_uc010jqv.2_Silent_p.I126I|ZNF184_uc003nji.2_Silent_p.I126I	1	1			p.I126I	NM_007149	NP_009080			1	ZN184_HUMAN	ZNF184	HGNC	Q99676	ZN184_HUMAN					5	1189	-			UPI000013C311	126					SNV	ZNF184,synonymous_variant,p.=,ENST00000211936,NM_007149.2;ZNF184,synonymous_variant,p.=,ENST00000377419,;	uc003njj.2	c.378A>C	663/3101	3	3			c.378A>C						6	SNP	c.(376-378)ATA>ATC	51	51			ovary(1)	1	Broad	zinc finger protein 184			27420960		0.413	ENSG00000096654	17492	g.chr6:27420960T>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							141.036212	KEEP	28	23	-1	85	40	28	23	-1	148.110141	85	40	0.284024	1	0	0	0	0	0	0	1	0	--	--		0	G			ZNF184_uc010jqv.2_Silent_p.I126I|ZNF184_uc003nji.2_Silent_p.I126I	64	GBM-06-0686-TP	p.I126I	T	GTTTTTCCACTATTACCTCTG	NM_007149	NP_009080	27420960	Q99676	ZN184_HUMAN	0			5	1189	-	G	G			Silent	126						
ZNF184	7738		GRCh37	6	27419109	27419109	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000211936.6:c.2229A>G	p.Lys743=	p.K743=	ENST00000211936	NM_007149.2	743	aaA/aaG	0																																																																																																																																																																																																																																												
ZNF19	0	broad.mit.edu	GRCh37	16	71509676	71509676	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-27-1830-01	TCGA-27-1830-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288177.5:c.774C>T	p.Ser258=	p.S258=	ENST00000288177	NM_006961.3	258	tcC/tcT	0			1			A	S	uc010cgc.1	protein_coding	YES	CCDS10901.1			774/1377										0	c.(772-774)TCC>TCT			PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF59,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 19				ENSP00000288177		6-Jun	1.65E-05			0.000231					rs778421522,COSM3402455	6-Jun	.		ENST00000288177	Transcript				nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000157429	g.chr16:71509676G>A	12981			LOW								--	--	1																																		ZNF23_uc002fai.2_Intron|ZNF19_uc002fak.1_Silent_p.S246S|ZNF19_uc002fal.1_Silent_p.S246S|ZNF19_uc002fam.1_Silent_p.S258S	0,1	1			p.S258S	NM_006961	NP_008892			0,1	ZNF19_HUMAN	ZNF19	HGNC	P17023	ZNF19_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)	J3KT56_HUMAN,H3BQI6_HUMAN,H3BQ26_HUMAN,H3BNI0_HUMAN,H3BNH9_HUMAN		6	1280	-		Ovarian(137;0.00965)	UPI00001E0590	258			C2H2-type 4.		SNV	ZNF19,synonymous_variant,p.=,ENST00000288177,NM_006961.3;ZNF19,synonymous_variant,p.=,ENST00000565637,;ZNF19,synonymous_variant,p.=,ENST00000564230,;ZNF19,synonymous_variant,p.=,ENST00000565100,;ZNF19,intron_variant,,ENST00000567225,;ZNF19,downstream_gene_variant,,ENST00000566202,;ZNF19,downstream_gene_variant,,ENST00000561469,;ZNF19,downstream_gene_variant,,ENST00000568815,;ZNF19,downstream_gene_variant,,ENST00000564225,;ZNF19,3_prime_UTR_variant,,ENST00000569717,;AC010547.9,intron_variant,,ENST00000561908,;ZNF19,downstream_gene_variant,,ENST00000562210,;ZNF19,downstream_gene_variant,,ENST00000565541,;	uc010cgc.1	c.774C>T	1030/3213	2	2			c.774C>T						16	SNP	c.(772-774)TCC>TCT	36	36				0	Broad	zinc finger protein 19			71509676		0.438	ENSG00000157429	17496	g.chr16:71509676G>A		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							49.235955	KEEP	16	19	-1	73	62	16	19	-1	65.561283	73	62	0.157534	1	0	0	0	0	0	0	1	0	--	--		0	A			ZNF23_uc002fai.2_Intron|ZNF19_uc002fak.1_Silent_p.S246S|ZNF19_uc002fal.1_Silent_p.S246S|ZNF19_uc002fam.1_Silent_p.S258S	189	GBM-27-1830-TP	p.S258S	G	TAACAAACTCGGAACTACTCG	NM_006961	NP_008892	71509676	P17023	ZNF19_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)	6	1280	-	A	A		Ovarian(137;0.00965)	Silent	258			C2H2-type 4.			
ZNF195	0	broad.mit.edu	GRCh37	11	3381676	3381676	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-2494-01	TCGA-32-2494-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000399602.4:c.562G>C	p.Asp188His	p.D188H	ENST00000399602	NM_001130520.2	188	Gac/Cac	0			1			G	D/H	uc001lxt.2	protein_coding	YES	CCDS44522.1			562/1890										0	c.(562-564)GAC>CAC			hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF87	zinc finger protein 195 isoform 1				ENSP00000382511		6-Jun									COSM3397649,COSM3397648	6-Jun	.		ENST00000399602	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000005801	g.chr11:3381676C>G	12986			MODERATE		1.815	low	getma.org/?cm=msa&ty=f&p=ZN195_HUMAN&rb=45&re=229&var=D188H	NA	getma.org/?cm=var&var=hg19,11,3381676,C,G&fts=all	D188H	--	--	1																																		uc001lxr.2_5'Flank|ZNF195_uc001lxv.2_Missense_Mutation_p.D165H|ZNF195_uc001lxs.2_Missense_Mutation_p.D116H|ZNF195_uc010qxr.1_Missense_Mutation_p.D169H|ZNF195_uc009ydz.2_Missense_Mutation_p.D143H|ZNF195_uc001lxu.2_Missense_Mutation_p.D120H	1,1	1		probably_damaging(0.99)	p.D188H	NM_001130520	NP_001123992		tolerated(0.14)	1,1	ZN195_HUMAN	ZNF195	HGNC	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)			6	740	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	UPI0000D6258D	188			Spacer.		SNV	ZNF195,missense_variant,p.Asp116His,ENST00000354599,NM_007152.4,NM_001256825.1,NM_001242843.1;ZNF195,missense_variant,p.Asp120His,ENST00000429541,;ZNF195,missense_variant,p.Asp188His,ENST00000399602,NM_001130520.2;ZNF195,missense_variant,p.Asp120His,ENST00000343338,;ZNF195,missense_variant,p.Asp165His,ENST00000005082,NM_001130519.2;ZNF195,missense_variant,p.Asp169His,ENST00000526601,NM_001242841.1;ZNF195,missense_variant,p.Asp143His,ENST00000528410,;ZNF195,missense_variant,p.Asp184His,ENST00000533036,;ZNF195,missense_variant,p.Asp120His,ENST00000529678,;ZNF195,3_prime_UTR_variant,,ENST00000438262,;ZNF195,intron_variant,,ENST00000528796,;ZNF195,downstream_gene_variant,,ENST00000534569,;ZNF195,downstream_gene_variant,,ENST00000427810,;ZNF195,downstream_gene_variant,,ENST00000528636,;ZNF195,downstream_gene_variant,,ENST00000524857,;ZNF195,downstream_gene_variant,,ENST00000330692,;ZNF195,3_prime_UTR_variant,,ENST00000528218,;ZNF195,3_prime_UTR_variant,,ENST00000525313,;ZNF195,3_prime_UTR_variant,,ENST00000529228,;ZNF195,non_coding_transcript_exon_variant,,ENST00000526540,;ZNF195,non_coding_transcript_exon_variant,,ENST00000526598,;ZNF195,non_coding_transcript_exon_variant,,ENST00000529789,;ZNF195,downstream_gene_variant,,ENST00000530643,;	uc001lxt.2	c.562G>C	689/2369	3	3			c.562G>C						11	SNP	c.(562-564)GAC>CAC	64	64				0	Broad	zinc finger protein 195 isoform 1			3381676		0.343	ENSG00000005801	17499	g.chr11:3381676C>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-34.524238	KEEP	0	3	-1	77	104	0	3	-1	7.161801	77	104	0.01875	1	0	0	0	0	1	0	0	0	--	--		0	G			uc001lxr.2_5'Flank|ZNF195_uc001lxv.2_Missense_Mutation_p.D165H|ZNF195_uc001lxs.2_Missense_Mutation_p.D116H|ZNF195_uc010qxr.1_Missense_Mutation_p.D169H|ZNF195_uc009ydz.2_Missense_Mutation_p.D143H|ZNF195_uc001lxu.2_Missense_Mutation_p.D120H	236	GBM-32-2494-TP	p.D188H	C	CTTTCCCAGTCTTTCCTTAAA	NM_001130520	NP_001123992	3381676	O14628	ZN195_HUMAN	0		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	6	740	-	G	G		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	Missense_Mutation	188			Spacer.			
ZNF197	10168	broad.mit.edu	GRCh37	3	44685661	44685661	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0877-01	TCGA-06-0877-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396058.1:c.3039C>G	p.Phe1013Leu	p.F1013L	ENST00000396058		1013	ttC/ttG	0			1			G	F/L	uc003cnm.2	protein_coding		CCDS2717.1			3039/3090									ovary(3)|skin(1)	4	c.(3037-3039)TTC>TTG				zinc finger protein 197 isoform 1				ENSP00000345809		6-Jun									COSM2152136	6-Jun	.		ENST00000344387	Transcript			viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000186448	g.chr3:44685661C>G	12988			MODERATE		-0.695	neutral	getma.org/?cm=msa&ty=f&p=ZN197_HUMAN&rb=998&re=1029&var=F1013L	NA	getma.org/?cm=var&var=hg19,3,44685661,C,G&fts=all	F1013L	--	--	1																																		ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron	1			benign(0.002)	p.F1013L	NM_006991	NP_008922		tolerated_low_confidence(0.8)	1	ZN197_HUMAN	ZNF197	HGNC	O14709	ZN197_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)	C9JQH5_HUMAN		6	3245	+			UPI000013C317	1013					SNV	ZNF197,missense_variant,p.Phe1013Leu,ENST00000396058,;ZNF197,missense_variant,p.Phe1013Leu,ENST00000344387,NM_006991.3;ZNF197,intron_variant,,ENST00000383745,NM_001024855.1;ZNF197,intron_variant,,ENST00000383744,;ZNF35,upstream_gene_variant,,ENST00000396056,NM_003420.3;ZNF35,upstream_gene_variant,,ENST00000296092,;ZNF35,upstream_gene_variant,,ENST00000542250,;ZNF35,upstream_gene_variant,,ENST00000415571,;ZNF35,upstream_gene_variant,,ENST00000453164,;ZNF35,upstream_gene_variant,,ENST00000399560,;ZNF35,upstream_gene_variant,,ENST00000432115,;RP11-944L7.4,intron_variant,,ENST00000457331,;ZNF197,intron_variant,,ENST00000334075,;	uc003cnm.2	c.3039C>G	3224/3275	3	3			c.3039C>G						3	SNP	c.(3037-3039)TTC>TTG	62	62			ovary(3)|skin(1)	4	Broad	zinc finger protein 197 isoform 1			44685661		0.363	ENSG00000186448	17500	g.chr3:44685661C>G	viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							135.136125	KEEP	21	20	-1	30	27	21	20	-1	135.675502	30	27	0.417582	1	0	0	0	0	1	0	0	0	--	--		0	G			ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron	73	GBM-06-0877-TP	p.F1013L	C	TTGAGGAATTCTCTTGGCTAC	NM_006991	NP_008922	44685661	O14709	ZN197_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)	6	3245	+	G	G			Missense_Mutation	1013						
ZNF202	7753		GRCh37	11	123597645	123597645	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000336139.4:c.1007A>G	p.Glu336Gly	p.E336G	ENST00000336139		336	gAg/gGg	0																																																																																																																																																																																																																																												
ZNF207	0	broad.mit.edu	GRCh37	17	30696410	30696410	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-14-4157-01	TCGA-14-4157-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321233.6:c.1213A>G	p.Met405Val	p.M405V	ENST00000321233	NM_003457.3	405	Atg/Gtg	0			1			G	M/V	uc002hhh.3	protein_coding		CCDS11271.1			1213/1437										0	c.(1213-1215)ATG>GTG			Low_complexity_(Seg):seg,hmmpanther:PTHR23215	zinc finger protein 207 isoform a				ENSP00000322777		11-Oct									COSM3402761	11-Oct	.		ENST00000321233	Transcript				nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000010244	g.chr17:30696410A>G	12998			MODERATE		0.205	neutral	getma.org/?cm=msa&ty=f&p=ZN207_HUMAN&rb=401&re=478&var=M405V	NA	getma.org/?cm=var&var=hg19,17,30696410,A,G&fts=all	M405V	--	--	1																																		ZNF207_uc002hhj.3_Missense_Mutation_p.M421V|ZNF207_uc002hhi.3_Missense_Mutation_p.M390V|ZNF207_uc010csz.2_Missense_Mutation_p.M424V|ZNF207_uc002hhk.1_Missense_Mutation_p.M421V|ZNF207_uc002hhl.1_RNA	1			unknown(0)	p.M405V	NM_003457	NP_003448		tolerated_low_confidence(0.26)	1	ZN207_HUMAN	ZNF207	HGNC	O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		J3QS27_HUMAN,J3KTL1_HUMAN,J3KRW6_HUMAN,J3KRB6_HUMAN		10	1361	+		Breast(31;0.116)|Ovarian(249;0.182)	UPI000013C31B	405					SNV	ZNF207,missense_variant,p.Met421Val,ENST00000394670,NM_001098507.1;ZNF207,missense_variant,p.Met421Val,ENST00000577908,;ZNF207,missense_variant,p.Met405Val,ENST00000321233,NM_003457.3;ZNF207,missense_variant,p.Met390Val,ENST00000394673,NM_001032293.2;ZNF207,missense_variant,p.Met322Val,ENST00000341711,;ZNF207,missense_variant,p.Met424Val,ENST00000342555,;ZNF207,downstream_gene_variant,,ENST00000394679,;ZNF207,upstream_gene_variant,,ENST00000584416,;ZNF207,missense_variant,p.Met268Val,ENST00000581531,;ZNF207,non_coding_transcript_exon_variant,,ENST00000579810,;ZNF207,downstream_gene_variant,,ENST00000584696,;ZNF207,downstream_gene_variant,,ENST00000579416,;ZNF207,downstream_gene_variant,,ENST00000582705,;	uc002hhh.3	c.1213A>G	1367/2283	3	3			c.1213A>G						17	SNP	c.(1213-1215)ATG>GTG	3	3				0	Broad	zinc finger protein 207 isoform a			30696410		0.488	ENSG00000010244	17506	g.chr17:30696410A>G		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							154.551514	KEEP	27	29	-1	41	45	27	29	-1	155.686904	41	45	0.396694	1	0	0	0	0	1	0	0	0	--	--		0	G			ZNF207_uc002hhj.3_Missense_Mutation_p.M421V|ZNF207_uc002hhi.3_Missense_Mutation_p.M390V|ZNF207_uc010csz.2_Missense_Mutation_p.M424V|ZNF207_uc002hhk.1_Missense_Mutation_p.M421V|ZNF207_uc002hhl.1_RNA	152	GBM-14-4157-TP	p.M405V	A	AATTGGAGGTATGATGCCACC	NM_003457	NP_003448	30696410	O43670	ZN207_HUMAN	0	BRCA - Breast invasive adenocarcinoma(9;0.239)		10	1361	+	G	G		Breast(31;0.116)|Ovarian(249;0.182)	Missense_Mutation	405						
ZNF207	0	broad.mit.edu	GRCh37	17	30685561	30685561	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321233.6:c.208C>T	p.Pro70Ser	p.P70S	ENST00000321233	NM_003457.3	70	Cct/Tct	0			1			T	P/S	uc002hhh.3	protein_coding		CCDS11271.1			208/1437										0	c.(208-210)CCT>TCT			hmmpanther:PTHR23215	zinc finger protein 207 isoform a				ENSP00000322777		11-Mar									COSM3402760	11-Mar	.		ENST00000321233	Transcript				nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000010244	g.chr17:30685561C>T	12998			MODERATE		2.475	medium	getma.org/?cm=msa&ty=f&p=ZN207_HUMAN&rb=1&re=200&var=P70S	NA	getma.org/?cm=var&var=hg19,17,30685561,C,T&fts=all	P70S	--	--	1																																		ZNF207_uc002hhj.3_Missense_Mutation_p.P70S|ZNF207_uc002hhi.3_Missense_Mutation_p.P70S|ZNF207_uc010csz.2_Missense_Mutation_p.P73S|ZNF207_uc002hhk.1_Missense_Mutation_p.P70S|ZNF207_uc002hhl.1_5'Flank	1			unknown(0)	p.P70S	NM_003457	NP_003448		tolerated(0.05)	1	ZN207_HUMAN	ZNF207	HGNC	O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		J3QS27_HUMAN,J3KTL1_HUMAN,J3KRW6_HUMAN,J3KRB6_HUMAN		3	356	+		Breast(31;0.116)|Ovarian(249;0.182)	UPI000013C31B	70					SNV	ZNF207,missense_variant,p.Pro70Ser,ENST00000394670,NM_001098507.1;ZNF207,missense_variant,p.Pro70Ser,ENST00000577908,;ZNF207,missense_variant,p.Pro70Ser,ENST00000321233,NM_003457.3;ZNF207,missense_variant,p.Pro70Ser,ENST00000394673,NM_001032293.2;ZNF207,missense_variant,p.Pro73Ser,ENST00000342555,;ZNF207,missense_variant,p.Pro16Ser,ENST00000394679,;ZNF207,missense_variant,p.Pro16Ser,ENST00000582165,;ZNF207,missense_variant,p.Pro16Ser,ENST00000579634,;ZNF207,missense_variant,p.Pro16Ser,ENST00000578918,;ZNF207,missense_variant,p.Pro16Ser,ENST00000580759,;ZNF207,intron_variant,,ENST00000341711,;RP11-227G15.3,non_coding_transcript_exon_variant,,ENST00000581915,;RP11-227G15.3,non_coding_transcript_exon_variant,,ENST00000578389,;ZNF207,non_coding_transcript_exon_variant,,ENST00000577324,;ZNF207,upstream_gene_variant,,ENST00000581531,;ZNF207,upstream_gene_variant,,ENST00000579416,;ZNF207,upstream_gene_variant,,ENST00000582705,;	uc002hhh.3	c.208C>T	362/2283	2	2			c.208C>T						17	SNP	c.(208-210)CCT>TCT	48	48				0	Broad	zinc finger protein 207 isoform a			30685561		0.333	ENSG00000010244	17506	g.chr17:30685561C>T		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							44.519268	KEEP	12	14	-1	84	46	12	14	-1	58.586777	84	46	0.172662	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF207_uc002hhj.3_Missense_Mutation_p.P70S|ZNF207_uc002hhi.3_Missense_Mutation_p.P70S|ZNF207_uc010csz.2_Missense_Mutation_p.P73S|ZNF207_uc002hhk.1_Missense_Mutation_p.P70S|ZNF207_uc002hhl.1_5'Flank	246	GBM-32-4211-TP	p.P70S	C	AAATGCAATACCTGGAAGAAC	NM_003457	NP_003448	30685561	O43670	ZN207_HUMAN	0	BRCA - Breast invasive adenocarcinoma(9;0.239)		3	356	+	T	T		Breast(31;0.116)|Ovarian(249;0.182)	Missense_Mutation	70						
ZNF208	7757	broad.mit.edu	GRCh37	19	22155610	22155610	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0876-01	TCGA-06-0876-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397126.4:c.2226T>C	p.Ile742=	p.I742=	ENST00000397126	NM_007153.3	742	atT/atC	0			1			G	I	uc002nqp.2	protein_coding	YES	CCDS54240.1			2226/3843									ovary(5)|skin(2)	7	c.(1924-1926)ATT>ATC			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 208				ENSP00000380315		4-Apr									COSM3404023,COSM3404022,COSM3404024	4-Apr	.		ENST00000397126	Transcript						ENSG00000160321	g.chr19:22155610A>G	12999			LOW								--	--	1																																		ZNF208_uc002nqo.1_Intron	1,1,1	1			p.I642I	NM_007153	NP_009084			1,1,1	ZN208_HUMAN	ZNF208	HGNC							5	2075	-		all_lung(12;0.0961)|Lung NSC(12;0.103)	UPI0001B23C28						SNV	ZNF208,synonymous_variant,p.=,ENST00000397126,NM_007153.3;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;	uc002nqp.2	c.1926T>C	2375/3992	3	3			c.1926T>C						19	SNP	c.(1924-1926)ATT>ATC	54	54			ovary(5)|skin(2)	7	Broad	zinc finger protein 208			22155610		0.363	ENSG00000160321	17507	g.chr19:22155610A>G										96.7996	KEEP	24	11	-1	81	37	24	11	-1	104.310622	81	37	0.25	1	0	0	0	0	0	0	1	0	--	--		0	G			ZNF208_uc002nqo.1_Intron	72	GBM-06-0876-TP	p.I642I	A	CTCCAGTATGAATTACCTTAT	NM_007153	NP_009084	22155610			0			5	2075	-	G	G		all_lung(12;0.0961)|Lung NSC(12;0.103)	Silent							
ZNF208	7757	broad.mit.edu	GRCh37	19	22156647	22156647	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-2557-01	TCGA-06-2557-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397126.4:c.1189T>C	p.Tyr397His	p.Y397H	ENST00000397126	NM_007153.3	397	Tac/Cac	0			1			G	Y/H	uc002nqp.2	protein_coding	YES	CCDS54240.1			1189/3843									ovary(5)|skin(2)	7	c.(1189-1191)TAC>CAC			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 208				ENSP00000380315		4-Apr									COSM3404026,COSM3404025,COSM3404027	4-Apr	.		ENST00000397126	Transcript						ENSG00000160321	g.chr19:22156647A>G	12999			MODERATE								--	--	1																																		ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	1,1,1	1		probably_damaging(0.982)	p.Y397H	NM_007153	NP_009084		deleterious(0)	1,1,1	ZN208_HUMAN	ZNF208	HGNC							4	1338	-		all_lung(12;0.0961)|Lung NSC(12;0.103)	UPI0001B23C28						SNV	ZNF208,missense_variant,p.Tyr397His,ENST00000397126,NM_007153.3;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;	uc002nqp.2	c.1189T>C	1338/3992	3	3			c.1189T>C						19	SNP	c.(1189-1191)TAC>CAC	6	6			ovary(5)|skin(2)	7	Broad	zinc finger protein 208			22156647		0.388	ENSG00000160321	17507	g.chr19:22156647A>G										106.055131	KEEP	23	14	-1	55	47	23	14	-1	109.917982	55	47	0.299065	1	0	0	0	0	1	0	0	0	--	--		0	G			ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	81	GBM-06-2557-TP	p.Y397H	A	TCACATTTGTAGGGTTTCTCT	NM_007153	NP_009084	22156647			0			4	1338	-	G	G		all_lung(12;0.0961)|Lung NSC(12;0.103)	Missense_Mutation							
ZNF208	7757	broad.mit.edu	GRCh37	19	22155492	22155492	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-2561-01	TCGA-06-2561-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397126.4:c.2344T>G	p.Cys782Gly	p.C782G	ENST00000397126	NM_007153.3	782	Tgt/Ggt	0			1			C	C/G	uc002nqp.2	protein_coding	YES	CCDS54240.1			2344/3843									ovary(5)|skin(2)	7	c.(2044-2046)TGT>GGT			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,SMART_domains:SM00355	zinc finger protein 208				ENSP00000380315		4-Apr									COSM3404020,COSM3404019,COSM3404021	4-Apr	.		ENST00000397126	Transcript						ENSG00000160321	g.chr19:22155492A>C	12999			MODERATE								--	--	1																																		ZNF208_uc002nqo.1_Intron	1,1,1	1		possibly_damaging(0.8)	p.C682G	NM_007153	NP_009084		deleterious(0.02)	1,1,1	ZN208_HUMAN	ZNF208	HGNC							5	2193	-		all_lung(12;0.0961)|Lung NSC(12;0.103)	UPI0001B23C28						SNV	ZNF208,missense_variant,p.Cys782Gly,ENST00000397126,NM_007153.3;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;	uc002nqp.2	c.2044T>G	2493/3992	3	3			c.2044T>G						19	SNP	c.(2044-2046)TGT>GGT	3	3			ovary(5)|skin(2)	7	Broad	zinc finger protein 208			22155492		0.358	ENSG00000160321	17507	g.chr19:22155492A>C										133.64977	KEEP	26	22	-1	65	62	26	22	-1	139.724157	65	62	0.28169	1	0	0	0	0	1	0	0	0	--	--		0	C			ZNF208_uc002nqo.1_Intron	84	GBM-06-2561-TP	p.C682G	A	GCTTTGCCACATTCTTCACAT	NM_007153	NP_009084	22155492			0			5	2193	-	C	C		all_lung(12;0.0961)|Lung NSC(12;0.103)	Missense_Mutation							
ZNF208	0	broad.mit.edu	GRCh37	19	22155346	22155346	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-12-3649-01	TCGA-12-3649-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397126.4:c.2490A>G	p.Glu830=	p.E830=	ENST00000397126	NM_007153.3	830	gaA/gaG	0			1			C	E	uc002nqp.2	protein_coding	YES	CCDS54240.1			2490/3843									ovary(5)|skin(2)	7	c.(2188-2190)GAA>GAG			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,Superfamily_domains:SSF57667	zinc finger protein 208				ENSP00000380315		4-Apr	0.000198		8.76E-05	0.00198		1.50E-05		0.000243	rs779713363,COSM1494181,COSM1494180,COSM1494182	4-Apr	common_variant		ENST00000397126	Transcript						ENSG00000160321	g.chr19:22155346T>C	12999			LOW								--	--	1																																		ZNF208_uc002nqo.1_Intron	0,1,1,1	1			p.E730E	NM_007153	NP_009084			0,1,1,1	ZN208_HUMAN	ZNF208	HGNC							5	2339	-		all_lung(12;0.0961)|Lung NSC(12;0.103)	UPI0001B23C28						SNV	ZNF208,synonymous_variant,p.=,ENST00000397126,NM_007153.3;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;	uc002nqp.2	c.2190A>G	2639/3992	3	3			c.2190A>G						19	SNP	c.(2188-2190)GAA>GAG	64	64			ovary(5)|skin(2)	7	Broad	zinc finger protein 208			22155346		0.373	ENSG00000160321	17507	g.chr19:22155346T>C										-23.323243	KEEP	1	3	-1	79	65	1	3	-1	9.487699	79	65	0.02963	1	0	0	0	0	0	0	1	0	--	--		0	C			ZNF208_uc002nqo.1_Intron	125	GBM-12-3649-TP	p.E730E	T	TGTAGGGCTTTTCTCCAGCAT	NM_007153	NP_009084	22155346			0			5	2339	-	C	C		all_lung(12;0.0961)|Lung NSC(12;0.103)	Silent							
ZNF208	0	broad.mit.edu	GRCh37	19	22155163	22155163	+	stop_gained	Nonsense_Mutation	SNP	A	A	T			TCGA-14-2554-01	TCGA-14-2554-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397126.4:c.2673T>A	p.Cys891Ter	p.C891*	ENST00000397126	NM_007153.3	891	tgT/tgA	0			1			T	C/*	uc002nqp.2	protein_coding	YES	CCDS54240.1			2673/3843									ovary(5)|skin(2)	7	c.(2371-2373)TGT>TGA			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 208				ENSP00000380315		4-Apr									COSM3404017,COSM3404016,COSM3404018	4-Apr	.		ENST00000397126	Transcript						ENSG00000160321	g.chr19:22155163A>T	12999			HIGH								--	--	1																																		ZNF208_uc002nqo.1_Intron	1,1,1	1			p.C791*	NM_007153	NP_009084			1,1,1	ZN208_HUMAN	ZNF208	HGNC							5	2522	-		all_lung(12;0.0961)|Lung NSC(12;0.103)	UPI0001B23C28						SNV	ZNF208,stop_gained,p.Cys891Ter,ENST00000397126,NM_007153.3;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;	uc002nqp.2	c.2373T>A	2822/3992	5	2			c.2373T>A						19	SNP	c.(2371-2373)TGT>TGA	26	26			ovary(5)|skin(2)	7	Broad	zinc finger protein 208			22155163		0.378	ENSG00000160321	17507	g.chr19:22155163A>T										136.12985	KEEP	23	29	-1	73	77	23	29	-1	143.363575	73	77	0.282353	1	0	0	0	0	0	1	0	0	--	--		0	T			ZNF208_uc002nqo.1_Intron	150	GBM-14-2554-TP	p.C791*	A	CACATTCTTCACATTTGTAGG	NM_007153	NP_009084	22155163			0			5	2522	-	T	T		all_lung(12;0.0961)|Lung NSC(12;0.103)	Nonsense_Mutation							
ZNF208	0	broad.mit.edu	GRCh37	19	22155210	22155210	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-1390-01	TCGA-19-1390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397126.4:c.2626C>A	p.Leu876Ile	p.L876I	ENST00000397126	NM_007153.3	876	Ctt/Att	0			1			T	L/I	uc002nqp.2	protein_coding	YES	CCDS54240.1			2626/3843									ovary(5)|skin(2)	7	c.(2326-2328)CTT>ATT			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 208				ENSP00000380315		4-Apr									COSM565910,COSM565909,COSM565911	4-Apr	.		ENST00000397126	Transcript						ENSG00000160321	g.chr19:22155210G>T	12999			MODERATE								--	--	1																																		ZNF208_uc002nqo.1_Intron	1,1,1	1		unknown(0)	p.L776I	NM_007153	NP_009084		deleterious(0.02)	1,1,1	ZN208_HUMAN	ZNF208	HGNC							5	2475	-		all_lung(12;0.0961)|Lung NSC(12;0.103)	UPI0001B23C28						SNV	ZNF208,missense_variant,p.Leu876Ile,ENST00000397126,NM_007153.3;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;	uc002nqp.2	c.2326C>A	2775/3992	1	1			c.2326C>A						19	SNP	c.(2326-2328)CTT>ATT	16	16			ovary(5)|skin(2)	7	Broad	zinc finger protein 208			22155210		0.363	ENSG00000160321	17507	g.chr19:22155210G>T										110.486712	KEEP	23	23	0.5	65	58	23	23	0.5	115.77253	65	58	0.291971	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF208_uc002nqo.1_Intron	159	GBM-19-1390-TP	p.L776I	G	TGATAACTAAGGGTTGAGGGC	NM_007153	NP_009084	22155210			0			5	2475	-	T	T		all_lung(12;0.0961)|Lung NSC(12;0.103)	Missense_Mutation							
ZNF208	0	broad.mit.edu	GRCh37	19	22156724	22156724	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01	TCGA-27-1836-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397126.4:c.1112G>A	p.Cys371Tyr	p.C371Y	ENST00000397126	NM_007153.3	371	tGt/tAt	0			1			T	C/Y	uc002nqp.2	protein_coding	YES	CCDS54240.1			1112/3843									ovary(5)|skin(2)	7	c.(1111-1113)TGT>TAT			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 208				ENSP00000380315		4-Apr									COSM3404029,COSM3404028,COSM3404030	4-Apr	.		ENST00000397126	Transcript						ENSG00000160321	g.chr19:22156724C>T	12999			MODERATE								--	--	1																																		ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	1,1,1	1		probably_damaging(0.999)	p.C371Y	NM_007153	NP_009084		deleterious(0)	1,1,1	ZN208_HUMAN	ZNF208	HGNC							4	1261	-		all_lung(12;0.0961)|Lung NSC(12;0.103)	UPI0001B23C28						SNV	ZNF208,missense_variant,p.Cys371Tyr,ENST00000397126,NM_007153.3;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;	uc002nqp.2	c.1112G>A	1261/3992	1	1			c.1112G>A						19	SNP	c.(1111-1113)TGT>TAT	11	11			ovary(5)|skin(2)	7	Broad	zinc finger protein 208			22156724		0.383	ENSG00000160321	17507	g.chr19:22156724C>T										103.36721	KEEP	24	23	-1	46	56	24	23	-1	108.610891	46	56	0.291045	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	195	GBM-27-1836-TP	p.C371Y	C	GCATTCTTCACATTTGTAGGG	NM_007153	NP_009084	22156724			0			4	1261	-	T	T		all_lung(12;0.0961)|Lung NSC(12;0.103)	Missense_Mutation							
ZNF208	7757		GRCh37	19	22155056	22155056	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6693-01	TCGA-06-6693-01																				ENST00000397126.4:c.2780G>A	p.Ser927Asn	p.S927N	ENST00000397126	NM_007153.3	927	aGc/aAc	0																																																																																																																																																																																																																																												
ZNF213	7760	broad.mit.edu	GRCh37	16	3187509	3187509	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2567-01	TCGA-06-2567-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396878.3:c.228C>T	p.Pro76=	p.P76=	ENST00000396878	NM_001134655.1	76	ccC/ccT	0			1			T	P	uc010uws.1	protein_coding	YES	CCDS10495.1			228/1380										0	c.(226-228)CCC>CCT			PROSITE_profiles:PS50804,hmmpanther:PTHR23226:SF58,hmmpanther:PTHR23226,Pfam_domain:PF02023,SMART_domains:SM00431,Superfamily_domains:SSF47353	zinc finger protein 213				ENSP00000380087		6-Feb									COSM2153070	6-Feb	.		ENST00000396878	Transcript			viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000085644	g.chr16:3187509C>T	13005			LOW								--	--	1																																		ZNF213_uc002cud.2_RNA|ZNF213_uc010btf.2_Silent_p.P76P|ZNF213_uc010bth.2_Silent_p.P76P|ZNF213_uc010uwt.1_Silent_p.P76P	1	1			p.P76P	NM_004220	NP_004211			1	ZN213_HUMAN	ZNF213	HGNC	O14771	ZN213_HUMAN			I3L2V8_HUMAN		2	675	+			UPI000007005C	76			SCAN box.		SNV	ZNF213,synonymous_variant,p.=,ENST00000396878,NM_001134655.1,NM_004220.2;ZNF213,synonymous_variant,p.=,ENST00000574902,;ZNF213,synonymous_variant,p.=,ENST00000576416,;ZNF213,synonymous_variant,p.=,ENST00000572647,;ZNF213,5_prime_UTR_variant,,ENST00000416391,;ZNF213,upstream_gene_variant,,ENST00000574575,;ZNF213,downstream_gene_variant,,ENST00000573771,;RP11-473M20.14,upstream_gene_variant,,ENST00000571963,;RP11-473M20.14,upstream_gene_variant,,ENST00000571449,;RP11-473M20.14,upstream_gene_variant,,ENST00000575089,;RP11-473M20.14,upstream_gene_variant,,ENST00000576590,;ZNF213,synonymous_variant,p.=,ENST00000576863,;ZNF213,non_coding_transcript_exon_variant,,ENST00000574928,;	uc010uws.1	c.228C>T	703/3313	2	2			c.228C>T						16	SNP	c.(226-228)CCC>CCT	21	21				0	Broad	zinc finger protein 213			3187509		0.662	ENSG00000085644	17510	g.chr16:3187509C>T	viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							104.193455	KEEP	30	18	-1	36	18	30	18	-1	104.253702	36	18	0.53125	1	0	0	0	0	0	0	1	0	--	--		0	T			ZNF213_uc002cud.2_RNA|ZNF213_uc010btf.2_Silent_p.P76P|ZNF213_uc010bth.2_Silent_p.P76P|ZNF213_uc010uwt.1_Silent_p.P76P	89	GBM-06-2567-TP	p.P76P	C	GGCTGCGGCCCGAGCTGCGTA	NM_004220	NP_004211	3187509	O14771	ZN213_HUMAN	0			2	675	+	T	T			Silent	76			SCAN box.			
ZNF215	7762	broad.mit.edu	GRCh37	11	6964441	6964441	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01	TCGA-06-5414-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278319.5:c.611G>A	p.Arg204His	p.R204H	ENST00000278319	NM_013250.2	204	cGt/cAt	0		A:0	1	A:0		A	R/H	uc001mey.2	protein_coding	YES	CCDS7775.1			611/1554										0	c.(610-612)CGT>CAT			PROSITE_profiles:PS50805,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF65,SMART_domains:SM00349,Superfamily_domains:0044637	zinc finger protein 215		A:0.001		ENSP00000278319	A:0	7-May	4.94E-05			0.000116				0.000338	rs192913397,COSM3398091	7-May	.		ENST00000278319	Transcript		A:0.0008	viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000149054	g.chr11:6964441G>A	13007			MODERATE		-1.1	neutral	getma.org/?cm=msa&ty=f&p=ZN215_HUMAN&rb=164&re=204&var=R204H	NA	getma.org/?cm=var&var=hg19,11,6964441,G,A&fts=all	R204H	--	--	1																																		ZNF215_uc010raw.1_Intron|ZNF215_uc010rax.1_Intron|ZNF215_uc001mez.1_Missense_Mutation_p.R204H	0,1	1		benign(0.002)	p.R204H	NM_013250	NP_037382	A:0.0031	tolerated(0.7)	0,1	ZN215_HUMAN	ZNF215	HGNC	Q9UL58	ZN215_HUMAN		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)			5	1199	+			UPI000013DB6D	204			KRAB.		SNV	ZNF215,missense_variant,p.Arg204His,ENST00000278319,NM_013250.2;ZNF215,missense_variant,p.Arg204His,ENST00000414517,;ZNF215,missense_variant,p.Arg204His,ENST00000529903,;ZNF215,non_coding_transcript_exon_variant,,ENST00000532533,;ZNF215,intron_variant,,ENST00000527171,;ZNF215,intron_variant,,ENST00000529755,;	uc001mey.2	c.611G>A	1199/3448	1	1			c.611G>A						11	SNP	c.(610-612)CGT>CAT	50	50				0	Broad	zinc finger protein 215			6964441		0.418	ENSG00000149054	17512	g.chr11:6964441G>A	viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							160.761397	KEEP	31	35	-1	72	83	31	35	-1	167.977426	72	83	0.29798	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF215_uc010raw.1_Intron|ZNF215_uc010rax.1_Intron|ZNF215_uc001mez.1_Missense_Mutation_p.R204H	97	GBM-06-5414-TP	p.R204H	G	AATTCATTGCGTAAAGGTGGT	NM_013250	NP_037382	6964441	Q9UL58	ZN215_HUMAN	0		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)	5	1199	+	A	A			Missense_Mutation	204			KRAB.			
ZNF215	0	broad.mit.edu	GRCh37	11	6977376	6977376	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278319.5:c.1168C>T	p.Arg390Ter	p.R390*	ENST00000278319	NM_013250.2	390	Cga/Tga	0	T:0		1			T	R/*	uc001mey.2	protein_coding	YES	CCDS7775.1			1168/1554										0	c.(1168-1170)CGA>TGA			PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF65,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 215			T:0.0002	ENSP00000278319		7-Jul	0.000107					0.000195			rs368370827,COSM3398092	7-Jul	.		ENST00000278319	Transcript			viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000149054	g.chr11:6977376C>T	13007			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,11,6977376,C,T&fts=all	R390*	--	--	1																																		ZNF215_uc010raw.1_3'UTR|ZNF215_uc010rax.1_Nonsense_Mutation_p.R152*|ZNF215_uc001mez.1_Intron	0,1	1			p.R390*	NM_013250	NP_037382			0,1	ZN215_HUMAN	ZNF215	HGNC	Q9UL58	ZN215_HUMAN		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)			7	1756	+			UPI000013DB6D	390			C2H2-type 1.		SNV	ZNF215,stop_gained,p.Arg390Ter,ENST00000278319,NM_013250.2;ZNF215,stop_gained,p.Arg390Ter,ENST00000414517,;ZNF215,intron_variant,,ENST00000529903,;ZNF215,intron_variant,,ENST00000532533,;ZNF215,downstream_gene_variant,,ENST00000527171,;ZNF215,downstream_gene_variant,,ENST00000529755,;	uc001mey.2	c.1168C>T	1756/3448	5	1			c.1168C>T						11	SNP	c.(1168-1170)CGA>TGA	9	9				0	Broad	zinc finger protein 215			6977376		0.393	ENSG00000149054	17512	g.chr11:6977376C>T	viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							164.235363	KEEP	24	36	-1	33	75	24	36	-1	166.720568	33	75	0.365385	1	0	0	0	0	0	1	0	0	--	--		0	T			ZNF215_uc010raw.1_3'UTR|ZNF215_uc010rax.1_Nonsense_Mutation_p.R152*|ZNF215_uc001mez.1_Intron	131	GBM-12-5301-TP	p.R390*	C	AGCCTTCTGCCGAAGTTCATC	NM_013250	NP_037382	6977376	Q9UL58	ZN215_HUMAN	0		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)	7	1756	+	T	T			Nonsense_Mutation	390			C2H2-type 1.			
ZNF229	7772	broad.mit.edu	GRCh37	19	44933156	44933156	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0122-01	TCGA-06-0122-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000588931.1:c.1800C>T	p.Tyr600=	p.Y600=	ENST00000588931	NM_014518.2	600	taC/taT	0		A:0.0008	1	A:0		A	Y	uc002oze.1	protein_coding	YES	CCDS42574.1			1800/2478									skin(2)|ovary(1)|pancreas(1)	4	c.(1798-1800)TAC>TAT			PROSITE_profiles:PS50157,hmmpanther:PTHR24377,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 229		A:0		ENSP00000466519	A:0	6-Jun	8.24E-06							6.06E-05	rs536903685,COSM1394460	6-Jun	.		ENST00000588931	Transcript		A:0.0002	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000167383	g.chr19:44933156G>A	13022			LOW								--	--	1																																		ZNF229_uc010ejk.1_Silent_p.Y254Y|ZNF229_uc010ejl.1_Silent_p.Y594Y	0,1	1			p.Y600Y	NM_014518	NP_055333	A:0		0,1	ZN229_HUMAN	ZNF229	HGNC	Q9UJW7	ZN229_HUMAN					6	2234	-		Prostate(69;0.0352)	UPI00001D8174	600			C2H2-type 11.		SNV	ZNF229,synonymous_variant,p.=,ENST00000291187,NM_001278510.1;ZNF229,synonymous_variant,p.=,ENST00000588931,NM_014518.2;ZNF229,downstream_gene_variant,,ENST00000592308,;CTC-512J12.4,intron_variant,,ENST00000588655,;ZNF229,intron_variant,,ENST00000591289,;ZNF229,3_prime_UTR_variant,,ENST00000591604,;	uc002oze.1	c.1800C>T	2234/4510	2	2			c.1800C>T						19	SNP	c.(1798-1800)TAC>TAT	21	21			skin(2)|ovary(1)|pancreas(1)	4	Broad	zinc finger protein 229			44933156		0.542	ENSG00000167383	17523	g.chr19:44933156G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							63.464875	KEEP	18	12	-1	56	35	18	12	-1	70.684057	56	35	0.236842	1	0	0	0	0	0	0	1	0	--	--		0	A			ZNF229_uc010ejk.1_Silent_p.Y254Y|ZNF229_uc010ejl.1_Silent_p.Y594Y	10	GBM-06-0122-TP	p.Y600Y	G	CGTCACACACGTAGGGCCTCT	NM_014518	NP_055333	44933156	Q9UJW7	ZN229_HUMAN	0			6	2234	-	A	A		Prostate(69;0.0352)	Silent	600			C2H2-type 11.			
ZNF229	7772	broad.mit.edu	GRCh37	19	44933285	44933285	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0173-01	TCGA-06-0173-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000588931.1:c.1671C>T	p.Ser557=	p.S557=	ENST00000588931	NM_014518.2	557	tcC/tcT	0	A:0		1			A	S	uc002oze.1	protein_coding	YES	CCDS42574.1			1671/2478									skin(2)|ovary(1)|pancreas(1)	4	c.(1669-1671)TCC>TCT			PROSITE_profiles:PS50157,hmmpanther:PTHR24377,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 229			A:0.0001	ENSP00000466519		6-Jun	5.77E-05					0.000105			rs371132127,COSM2150421	6-Jun	.		ENST00000588931	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000167383	g.chr19:44933285G>A	13022			LOW								--	--	1																																		ZNF229_uc010ejk.1_Silent_p.S211S|ZNF229_uc010ejl.1_Silent_p.S551S	0,1	1			p.S557S	NM_014518	NP_055333			0,1	ZN229_HUMAN	ZNF229	HGNC	Q9UJW7	ZN229_HUMAN					6	2105	-		Prostate(69;0.0352)	UPI00001D8174	557			C2H2-type 9.		SNV	ZNF229,synonymous_variant,p.=,ENST00000291187,NM_001278510.1;ZNF229,synonymous_variant,p.=,ENST00000588931,NM_014518.2;ZNF229,downstream_gene_variant,,ENST00000592308,;CTC-512J12.4,intron_variant,,ENST00000588655,;ZNF229,intron_variant,,ENST00000591289,;ZNF229,3_prime_UTR_variant,,ENST00000591604,;	uc002oze.1	c.1671C>T	2105/4510	2	2			c.1671C>T						19	SNP	c.(1669-1671)TCC>TCT	23	23			skin(2)|ovary(1)|pancreas(1)	4	Broad	zinc finger protein 229			44933285		0.542	ENSG00000167383	17523	g.chr19:44933285G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							88.03404	KEEP	17	14	-1	35	30	17	14	-1	90.117937	35	30	0.337079	1	0	0	0	0	0	0	1	0	--	--		0	A			ZNF229_uc010ejk.1_Silent_p.S211S|ZNF229_uc010ejl.1_Silent_p.S551S	36	GBM-06-0173-TP	p.S557S	G	TGTGGAGGTCGGAGCTCCGGC	NM_014518	NP_055333	44933285	Q9UJW7	ZN229_HUMAN	0			6	2105	-	A	A		Prostate(69;0.0352)	Silent	557			C2H2-type 9.			
ZNF229	0	broad.mit.edu	GRCh37	19	44934110	44934110	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-0616-01	TCGA-12-0616-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000588931.1:c.846G>A	p.Pro282=	p.P282=	ENST00000588931	NM_014518.2	282	ccG/ccA	0			1			T	P	uc002oze.1	protein_coding	YES	CCDS42574.1			846/2478									skin(2)|ovary(1)|pancreas(1)	4	c.(844-846)CCG>CCA			hmmpanther:PTHR24377,Superfamily_domains:SSF57667	zinc finger protein 229				ENSP00000466519		6-Jun	5.79E-05				0.000304	6.01E-05		6.07E-05	rs758549071,COSM3290371	6-Jun	.		ENST00000588931	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000167383	g.chr19:44934110C>T	13022			LOW								--	--	1																																		ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Silent_p.P276P	0,1	1			p.P282P	NM_014518	NP_055333			0,1	ZN229_HUMAN	ZNF229	HGNC	Q9UJW7	ZN229_HUMAN					6	1280	-		Prostate(69;0.0352)	UPI00001D8174	282					SNV	ZNF229,synonymous_variant,p.=,ENST00000291187,NM_001278510.1;ZNF229,synonymous_variant,p.=,ENST00000588931,NM_014518.2;ZNF229,downstream_gene_variant,,ENST00000592308,;CTC-512J12.4,intron_variant,,ENST00000588655,;ZNF229,intron_variant,,ENST00000591289,;ZNF229,3_prime_UTR_variant,,ENST00000591604,;	uc002oze.1	c.846G>A	1280/4510	1	1			c.846G>A						19	SNP	c.(844-846)CCG>CCA	1	1			skin(2)|ovary(1)|pancreas(1)	4	Broad	zinc finger protein 229			44934110		0.443	ENSG00000167383	17523	g.chr19:44934110C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-14.722368	KEEP	2	2	-1	46	49	2	2	-1	6.628477	46	49	0.042105	1	0	0	0	0	0	0	1	0	--	--		0	T			ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Silent_p.P276P	118	GBM-12-0616-TP	p.P282P	C	CTCTTGGATGCGGGGGAAGGT	NM_014518	NP_055333	44934110	Q9UJW7	ZN229_HUMAN	0			6	1280	-	T	T		Prostate(69;0.0352)	Silent	282						
ZNF229	0	broad.mit.edu	GRCh37	19	44932748	44932748	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-1395-01	TCGA-14-1395-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000588931.1:c.2208C>T	p.Gly736=	p.G736=	ENST00000588931	NM_014518.2	736	ggC/ggT	0			1			A	G	uc002oze.1	protein_coding	YES	CCDS42574.1			2208/2478									skin(2)|ovary(1)|pancreas(1)	4	c.(2206-2208)GGC>GGT			PROSITE_profiles:PS50157,hmmpanther:PTHR24377,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	zinc finger protein 229				ENSP00000466519		6-Jun	8.24E-06					1.50E-05			rs777593082,COSM566926	6-Jun	.		ENST00000588931	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000167383	g.chr19:44932748G>A	13022			LOW								--	--	1																																		ZNF229_uc010ejk.1_Silent_p.G390G|ZNF229_uc010ejl.1_Silent_p.G730G	0,1	1			p.G736G	NM_014518	NP_055333			0,1	ZN229_HUMAN	ZNF229	HGNC	Q9UJW7	ZN229_HUMAN					6	2642	-		Prostate(69;0.0352)	UPI00001D8174	736					SNV	ZNF229,synonymous_variant,p.=,ENST00000291187,NM_001278510.1;ZNF229,synonymous_variant,p.=,ENST00000588931,NM_014518.2;ZNF229,downstream_gene_variant,,ENST00000592308,;CTC-512J12.4,intron_variant,,ENST00000588655,;ZNF229,intron_variant,,ENST00000591289,;ZNF229,3_prime_UTR_variant,,ENST00000591604,;	uc002oze.1	c.2208C>T	2642/4510	2	2			c.2208C>T						19	SNP	c.(2206-2208)GGC>GGT	23	23			skin(2)|ovary(1)|pancreas(1)	4	Broad	zinc finger protein 229			44932748		0.488	ENSG00000167383	17523	g.chr19:44932748G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							51.738725	KEEP	11	10	-1	18	27	11	10	-1	53.847816	18	27	0.307692	1	0	0	0	0	0	0	1	0	--	--		0	A			ZNF229_uc010ejk.1_Silent_p.G390G|ZNF229_uc010ejl.1_Silent_p.G730G	144	GBM-14-1395-TP	p.G736G	G	ATGGCTTCTCGCCAGTGTGCA	NM_014518	NP_055333	44932748	Q9UJW7	ZN229_HUMAN	0			6	2642	-	A	A		Prostate(69;0.0352)	Silent	736						
ZNF229	0	broad.mit.edu	GRCh37	19	44933459	44933459	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-32-4211-01	TCGA-32-4211-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000588931.1:c.1497T>C	p.Ser499=	p.S499=	ENST00000588931	NM_014518.2	499	agT/agC	0			1			G	S	uc002oze.1	protein_coding	YES	CCDS42574.1			1497/2478									skin(2)|ovary(1)|pancreas(1)	4	c.(1495-1497)AGT>AGC			PROSITE_profiles:PS50157,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 229				ENSP00000466519		6-Jun									COSM2157391	6-Jun	.		ENST00000588931	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000167383	g.chr19:44933459A>G	13022			LOW								--	--	1																																		ZNF229_uc010ejk.1_Silent_p.S153S|ZNF229_uc010ejl.1_Silent_p.S493S	1	1			p.S499S	NM_014518	NP_055333			1	ZN229_HUMAN	ZNF229	HGNC	Q9UJW7	ZN229_HUMAN					6	1931	-		Prostate(69;0.0352)	UPI00001D8174	499			C2H2-type 7.		SNV	ZNF229,synonymous_variant,p.=,ENST00000291187,NM_001278510.1;ZNF229,synonymous_variant,p.=,ENST00000588931,NM_014518.2;ZNF229,downstream_gene_variant,,ENST00000592308,;CTC-512J12.4,intron_variant,,ENST00000588655,;ZNF229,intron_variant,,ENST00000591289,;ZNF229,3_prime_UTR_variant,,ENST00000591604,;	uc002oze.1	c.1497T>C	1931/4510	4	4			c.1497T>C						19	SNP	c.(1495-1497)AGT>AGC	29	29			skin(2)|ovary(1)|pancreas(1)	4	Broad	zinc finger protein 229			44933459		0.517	ENSG00000167383	17523	g.chr19:44933459A>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							165.227781	KEEP	41	29	-1	107	129	41	29	-1	184.702939	107	129	0.218045	1	0	0	0	0	0	0	1	0	--	--		0	G			ZNF229_uc010ejk.1_Silent_p.S153S|ZNF229_uc010ejl.1_Silent_p.S493S	246	GBM-32-4211-TP	p.S499S	A	ACGAGTTGTGACTGAAACCTT	NM_014518	NP_055333	44933459	Q9UJW7	ZN229_HUMAN	0			6	1931	-	G	G		Prostate(69;0.0352)	Silent	499			C2H2-type 7.			
ZNF23	7571	broad.mit.edu	GRCh37	16	71482423	71482423	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0154-01	TCGA-06-0154-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393539.2:c.1505A>G	p.Lys502Arg	p.K502R	ENST00000393539	NM_145911.1	502	aAg/aGg	0			1			C	K/R	uc002faf.2	protein_coding		CCDS10900.1			1505/1932										0	c.(1504-1506)AAG>AGG			PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF180,hmmpanther:PTHR24377,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	zinc finger protein 23				ENSP00000349796		5-May									COSM1493732	5-May	.		ENST00000357254	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000167377	g.chr16:71482423T>C	13023			MODERATE		0.925	low	getma.org/?cm=msa&ty=f&p=ZNF23_HUMAN&rb=470&re=534&var=K502R	getma.org/pdb.php?prot=ZNF23_HUMAN&from=490&to=514&var=K502R	getma.org/?cm=var&var=hg19,16,71482423,T,C&fts=all	K502R	--	--	1																																		ZNF23_uc002fad.2_Missense_Mutation_p.K444R|ZNF23_uc002fae.2_Missense_Mutation_p.K444R|ZNF23_uc010vmf.1_Missense_Mutation_p.K444R|ZNF23_uc002fag.2_Missense_Mutation_p.K444R|ZNF23_uc002fah.2_Missense_Mutation_p.K502R|ZNF23_uc002fai.2_Missense_Mutation_p.K541R	1			probably_damaging(1)	p.K502R	NM_145911	NP_666016		deleterious(0.02)	1	ZNF23_HUMAN	ZNF23	HGNC	P17027	ZNF23_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0686)	Q8NDP5_HUMAN,H3BPE6_HUMAN		6	2319	-		Ovarian(137;0.00768)	UPI000013C406	502					SNV	ZNF23,missense_variant,p.Lys502Arg,ENST00000393539,NM_145911.1;ZNF23,missense_variant,p.Lys502Arg,ENST00000417828,;ZNF23,missense_variant,p.Lys502Arg,ENST00000357254,;ZNF23,missense_variant,p.Lys444Arg,ENST00000564528,;ZNF23,missense_variant,p.Lys444Arg,ENST00000428724,;ZNF23,3_prime_UTR_variant,,ENST00000497160,;ZNF23,3_prime_UTR_variant,,ENST00000358700,;ZNF23,downstream_gene_variant,,ENST00000567340,;ZNF23,downstream_gene_variant,,ENST00000565718,;ZNF23,non_coding_transcript_exon_variant,,ENST00000539742,;AC010547.9,3_prime_UTR_variant,,ENST00000561908,;ZNF23,non_coding_transcript_exon_variant,,ENST00000576258,;RP11-510M2.8,upstream_gene_variant,,ENST00000571789,;	uc002faf.2	c.1505A>G	2263/3186	3	3			c.1505A>G						16	SNP	c.(1504-1506)AAG>AGG	55	55				0	Broad	zinc finger protein 23			71482423		0.403	ENSG00000167377	17524	g.chr16:71482423T>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-37.835354	KEEP	2	1	-1	109	100	2	1	-1	7.366487	109	100	0.017442	1	0	0	0	0	1	0	0	0	--	--		0	C			ZNF23_uc002fad.2_Missense_Mutation_p.K444R|ZNF23_uc002fae.2_Missense_Mutation_p.K444R|ZNF23_uc010vmf.1_Missense_Mutation_p.K444R|ZNF23_uc002fag.2_Missense_Mutation_p.K444R|ZNF23_uc002fah.2_Missense_Mutation_p.K502R|ZNF23_uc002fai.2_Missense_Mutation_p.K541R	26	GBM-06-0154-TP	p.K502R	T	TTGATAGGGCTTTTCTCCAGT	NM_145911	NP_666016	71482423	P17027	ZNF23_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.0686)	6	2319	-	C	C		Ovarian(137;0.00768)	Missense_Mutation	502						
ZNF23	7571	broad.mit.edu	GRCh37	16	71483233	71483233	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0686-01	TCGA-06-0686-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000393539.2:c.695G>T	p.Ser232Ile	p.S232I	ENST00000393539	NM_145911.1	232	aGc/aTc	0			1			A	S/I	uc002faf.2	protein_coding		CCDS10900.1			695/1932										0	c.(694-696)AGC>ATC			PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF180,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	zinc finger protein 23				ENSP00000349796		5-May									COSM2151582	5-May	.		ENST00000357254	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000167377	g.chr16:71483233C>A	13023			MODERATE		2.63	medium	getma.org/?cm=msa&ty=f&p=ZNF23_HUMAN&rb=190&re=255&var=S232I	getma.org/pdb.php?prot=ZNF23_HUMAN&from=210&to=235&var=S232I	getma.org/?cm=var&var=hg19,16,71483233,C,A&fts=all	S232I	--	--	1																																		ZNF23_uc002fad.2_Missense_Mutation_p.S174I|ZNF23_uc002fae.2_Missense_Mutation_p.S174I|ZNF23_uc010vmf.1_Missense_Mutation_p.S174I|ZNF23_uc002fag.2_Missense_Mutation_p.S174I|ZNF23_uc002fah.2_Missense_Mutation_p.S232I|ZNF23_uc002fai.2_Missense_Mutation_p.S271I	1			benign(0.179)	p.S232I	NM_145911	NP_666016		deleterious(0)	1	ZNF23_HUMAN	ZNF23	HGNC	P17027	ZNF23_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0686)	Q8NDP5_HUMAN,H3BPE6_HUMAN		6	1509	-		Ovarian(137;0.00768)	UPI000013C406	232			C2H2-type 3.		SNV	ZNF23,missense_variant,p.Ser232Ile,ENST00000393539,NM_145911.1;ZNF23,missense_variant,p.Ser232Ile,ENST00000417828,;ZNF23,missense_variant,p.Ser232Ile,ENST00000357254,;ZNF23,missense_variant,p.Ser174Ile,ENST00000564528,;ZNF23,missense_variant,p.Ser174Ile,ENST00000428724,;ZNF23,3_prime_UTR_variant,,ENST00000497160,;ZNF23,3_prime_UTR_variant,,ENST00000358700,;ZNF23,downstream_gene_variant,,ENST00000567340,;ZNF23,downstream_gene_variant,,ENST00000565718,;ZNF23,non_coding_transcript_exon_variant,,ENST00000539742,;AC010547.9,3_prime_UTR_variant,,ENST00000561908,;ZNF23,non_coding_transcript_exon_variant,,ENST00000576258,;	uc002faf.2	c.695G>T	1453/3186	2	2			c.695G>T						16	SNP	c.(694-696)AGC>ATC	25	25				0	Broad	zinc finger protein 23			71483233		0.448	ENSG00000167377	17524	g.chr16:71483233C>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							116.609227	KEEP	30	18	0.375	55	46	30	18	0.375	120.716655	55	46	0.319149	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF23_uc002fad.2_Missense_Mutation_p.S174I|ZNF23_uc002fae.2_Missense_Mutation_p.S174I|ZNF23_uc010vmf.1_Missense_Mutation_p.S174I|ZNF23_uc002fag.2_Missense_Mutation_p.S174I|ZNF23_uc002fah.2_Missense_Mutation_p.S232I|ZNF23_uc002fai.2_Missense_Mutation_p.S271I	64	GBM-06-0686-TP	p.S232I	C	GTAGCTGAAGCTTTTCCCACA	NM_145911	NP_666016	71483233	P17027	ZNF23_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.0686)	6	1509	-	A	A		Ovarian(137;0.00768)	Missense_Mutation	232			C2H2-type 3.			
ZNF233	0	broad.mit.edu	GRCh37	19	44778066	44778066	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-1442-01	TCGA-26-1442-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000391958.2:c.1253G>A	p.Arg418Lys	p.R418K	ENST00000391958	NM_181756.2	418	aGa/aAa	0			1			A	R/K	uc002oyz.1	protein_coding	YES	CCDS33047.1			1253/2013									skin(2)	2	c.(1252-1254)AGA>AAA			PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF42,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 233				ENSP00000375820		5-May									COSM3404358,COSM3404359	5-May	.		ENST00000391958	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000159915	g.chr19:44778066G>A	30946			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=ZN233_HUMAN&rb=249&re=440&var=R418K	getma.org/pdb.php?prot=ZN233_HUMAN&from=249&to=440&var=R418K	getma.org/?cm=var&var=hg19,19,44778066,G,A&fts=all	R418K	--	--	1																																		ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Missense_Mutation_p.R233K	1,1	1		benign(0.054)	p.R418K	NM_181756	NP_861421		tolerated(0.21)	1,1	ZN233_HUMAN	ZNF233	HGNC	A6NK53	ZN233_HUMAN			K7EN46_HUMAN		5	1380	+		Prostate(69;0.0435)|all_neural(266;0.226)	UPI000049DEBE	418			C2H2-type 5; degenerate.		SNV	ZNF233,missense_variant,p.Arg418Lys,ENST00000391958,NM_181756.2;ZNF233,missense_variant,p.Arg400Lys,ENST00000334152,;ZNF233,3_prime_UTR_variant,,ENST00000592581,NM_001207005.1;ZNF235,intron_variant,,ENST00000589799,;ZNF233,downstream_gene_variant,,ENST00000590668,;ZNF235,downstream_gene_variant,,ENST00000589248,;ZNF235,intron_variant,,ENST00000592844,;	uc002oyz.1	c.1253G>A	1380/2784	2	2			c.1253G>A						19	SNP	c.(1252-1254)AGA>AAA	44	44			skin(2)	2	Broad	zinc finger protein 233			44778066		0.418	ENSG00000159915	17527	g.chr19:44778066G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							14.128276	KEEP	1	8	-1	26	34	1	8	-1	21.877848	26	34	0.142857	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Missense_Mutation_p.R233K	180	GBM-26-1442-TP	p.R418K	G	GCCCATCAGAGAGGTCACTCT	NM_181756	NP_861421	44778066	A6NK53	ZN233_HUMAN	0			5	1380	+	A	A		Prostate(69;0.0435)|all_neural(266;0.226)	Missense_Mutation	418			C2H2-type 5; degenerate.			
ZNF234	10780	broad.mit.edu	GRCh37	19	44661986	44661986	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0145-01	TCGA-06-0145-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000426739.2:c.1817del	p.Ser606IlefsTer63	p.S606Ifs*63	ENST00000426739	NM_006630.2	606	aGt/at	0			1			-	S/X	uc002oym.2	protein_coding	YES	CCDS46101.1			1817/2103										0	c.(1816-1818)AGTfs			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF195,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 234				ENSP00000400878		6-Jun										6-Jun	.		ENST00000426739	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000263002	g.chr19:44661986delG	13027			HIGH								--	--	1																																		ZNF234_uc002oyl.3_Frame_Shift_Del_p.S606fs		1			p.S606fs	NM_006630	NP_006621				ZN234_HUMAN	ZNF234	HGNC	Q14588	ZN234_HUMAN			Q86WM3_HUMAN,Q86WM2_HUMAN		6	2124	+		Prostate(69;0.0435)	UPI0000070C95	606			C2H2-type 17.		deletion	ZNF234,frameshift_variant,p.Ser606IlefsTer63,ENST00000426739,NM_006630.2;ZNF234,frameshift_variant,p.Ser606IlefsTer63,ENST00000592437,NM_001144824.1;	uc002oym.2	c.1817delG	2075/3245	5	5			c.1817delG						19	DEL	c.(1816-1818)AGTfs	3	3				0	Broad	zinc finger protein 234			44661986		0.468	ENSG00000263002	17528	g.chr19:44661986delG	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding																				0.25	1	1	0	1	0	0	0	0	0	--	--		0	-			ZNF234_uc002oyl.3_Frame_Shift_Del_p.S606fs	23	GBM-06-0145-TP	p.S606fs	G	AAGCACTTCAGTCAGGCCTCA	NM_006630	NP_006621	44661986	Q14588	ZN234_HUMAN	0			6	2124	+	-	-		Prostate(69;0.0435)	Frame_Shift_Del	606			C2H2-type 17.			
ZNF235	0	broad.mit.edu	GRCh37	19	44803797	44803797	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-5204-01	TCGA-28-5204-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000291182.4:c.104A>G	p.Asp35Gly	p.D35G	ENST00000291182	NM_004234.4	35	gAt/gGt	0			1			C	D/G	uc002oza.3	protein_coding	YES	CCDS33048.1			104/2217									ovary(2)|large_intestine(1)	3	c.(103-105)GAT>GGT			PROSITE_profiles:PS50805,hmmpanther:PTHR24377:SF251,hmmpanther:PTHR24377,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	zinc finger protein 93 homolog				ENSP00000291182		5-Mar									COSM3748058	5-Mar	.		ENST00000291182	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000159917	g.chr19:44803797T>C	12866			MODERATE		3.68	high	getma.org/?cm=msa&ty=f&p=ZN235_HUMAN&rb=8&re=48&var=D35G	getma.org/pdb.php?prot=ZN235_HUMAN&from=8&to=48&var=D35G	getma.org/?cm=var&var=hg19,19,44803797,T,C&fts=all	D35G	--	--	1																																		ZNF235_uc002oyx.1_RNA|ZNF235_uc010eji.2_Missense_Mutation_p.D35G|ZNF235_uc002ozb.3_Missense_Mutation_p.D35G|ZNF235_uc010xwx.1_5'UTR	1	1		benign(0.364)	p.D35G	NM_004234	NP_004225		deleterious(0)	1	ZN235_HUMAN	ZNF235	HGNC	Q14590	ZN235_HUMAN					3	207	-		Prostate(69;0.0352)|all_neural(266;0.116)	UPI00002025C2	35			KRAB.		SNV	ZNF235,missense_variant,p.Asp35Gly,ENST00000291182,NM_004234.4;ZNF235,missense_variant,p.Asp35Gly,ENST00000589799,;ZNF235,missense_variant,p.Asp120Gly,ENST00000591609,;ZNF235,missense_variant,p.Asp35Gly,ENST00000589248,;ZNF235,missense_variant,p.Asp35Gly,ENST00000592844,;NDUFA3P1,downstream_gene_variant,,ENST00000588007,;	uc002oza.3	c.104A>G	207/3188	3	3			c.104A>G						19	SNP	c.(103-105)GAT>GGT	16	16			ovary(2)|large_intestine(1)	3	Broad	zinc finger protein 93 homolog			44803797		0.443	ENSG00000159917	17529	g.chr19:44803797T>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							468.312525	KEEP	84	73	-1	113	108	84	73	-1	470.643911	113	108	0.410714	1	0	0	0	0	1	0	0	0	--	--		0	C			ZNF235_uc002oyx.1_RNA|ZNF235_uc010eji.2_Missense_Mutation_p.D35G|ZNF235_uc002ozb.3_Missense_Mutation_p.D35G|ZNF235_uc010xwx.1_5'UTR	215	GBM-28-5204-TP	p.D35G	T	CAGCATCACATCTCGGTACAG	NM_004234	NP_004225	44803797	Q14590	ZN235_HUMAN	0			3	207	-	C	C		Prostate(69;0.0352)|all_neural(266;0.116)	Missense_Mutation	35			KRAB.			
ZNF236	0	broad.mit.edu	GRCh37	18	74625839	74625839	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01	TCGA-26-6174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000253159.8:c.3040G>A	p.Glu1014Lys	p.E1014K	ENST00000253159	NM_007345.3	1014	Gag/Aag	0			1			A	E/K	uc002lmi.2	protein_coding	YES	CCDS42447.1			3040/5538									ovary(4)	4	c.(3040-3042)GAG>AAG			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24396,hmmpanther:PTHR24396:SF15,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 236				ENSP00000253159		18/31	8.27E-06					1.50E-05			rs776798483,COSM3403665,COSM3403666	18/31	.		ENST00000253159	Transcript			cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000130856	g.chr18:74625839G>A	13028			MODERATE		-0.025	neutral	getma.org/?cm=msa&ty=f&p=ZN236_HUMAN&rb=989&re=1054&var=E1014K	getma.org/pdb.php?prot=ZN236_HUMAN&from=1009&to=1034&var=E1014K	getma.org/?cm=var&var=hg19,18,74625839,G,A&fts=all	E1014K	--	--	1																																		ZNF236_uc002lmj.2_RNA	0,1,1	1		probably_damaging(0.982)	p.E1014K	NM_007345	NP_031371		tolerated(0.19)	0,1,1	ZN236_HUMAN	ZNF236	HGNC	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)			18	3238	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	UPI0000F6DCCB	1014			C2H2-type 19.		SNV	ZNF236,missense_variant,p.Glu1014Lys,ENST00000253159,NM_007345.3;ZNF236,missense_variant,p.Glu1016Lys,ENST00000320610,;ZNF236,missense_variant,p.Glu1014Lys,ENST00000543926,;ZNF236,non_coding_transcript_exon_variant,,ENST00000581450,;	uc002lmi.2	c.3040G>A	3238/8124	2	2			c.3040G>A						18	SNP	c.(3040-3042)GAG>AAG	38	38			ovary(4)	4	Broad	zinc finger protein 236			74625839		0.413	ENSG00000130856	17530	g.chr18:74625839G>A	cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							16.080112	KEEP	9	5	-1	45	54	9	5	-1	28.746907	45	54	0.12766	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF236_uc002lmj.2_RNA	188	GBM-26-6174-TP	p.E1014K	G	CAAGTCCCACGAGAAGACACA	NM_007345	NP_031371	74625839	Q9UL36	ZN236_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	18	3238	+	A	A		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	Missense_Mutation	1014			C2H2-type 19.			
ZNF239	8187	broad.mit.edu	GRCh37	10	44052995	44052995	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0213-01	TCGA-06-0213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306006.6:c.533C>A	p.Pro178His	p.P178H	ENST00000306006	NM_005674.2	178	cCc/cAc	0			1			T	P/H	uc001jaw.3	protein_coding	YES	CCDS41502.1			533/1377										0	c.(532-534)CCC>CAC			Superfamily_domains:SSF57667,hmmpanther:PTHR24377:SF114,hmmpanther:PTHR24377	zinc finger protein 239				ENSP00000307774		2-Feb									COSM3397127	2-Feb	.		ENST00000306006	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding	ENSG00000196793	g.chr10:44052995G>T	13031			MODERATE		2.475	medium	getma.org/?cm=msa&ty=f&p=ZN239_HUMAN&rb=139&re=194&var=P178H	NA	getma.org/?cm=var&var=hg19,10,44052995,G,T&fts=all	P178H	--	--	1																																		ZNF239_uc001jax.3_Missense_Mutation_p.P178H|ZNF239_uc009xmj.2_Missense_Mutation_p.P178H|ZNF239_uc009xmk.2_Missense_Mutation_p.P178H	1	1		benign(0.146)	p.P178H	NM_005674	NP_005665		deleterious(0.03)	1	ZN239_HUMAN	ZNF239	HGNC	Q16600	ZN239_HUMAN					2	1186	-			UPI000006DD0E	178					SNV	ZNF239,missense_variant,p.Pro178His,ENST00000306006,NM_005674.2;ZNF239,missense_variant,p.Pro178His,ENST00000374446,NM_001099282.1;ZNF239,missense_variant,p.Pro178His,ENST00000426961,NM_001099284.1;ZNF239,missense_variant,p.Pro178His,ENST00000535642,NM_001099283.1;ZNF239,non_coding_transcript_exon_variant,,ENST00000491188,;	uc001jaw.3	c.533C>A	1186/2389	1	1			c.533C>A						10	SNP	c.(532-534)CCC>CAC	2	2				0	Broad	zinc finger protein 239			44052995		0.428	ENSG00000196793	17532	g.chr10:44052995G>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding							-9.744977	KEEP	5	5	0.5	85	71	5	5	0.5	18.169363	85	71	0.06383	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF239_uc001jax.3_Missense_Mutation_p.P178H|ZNF239_uc009xmj.2_Missense_Mutation_p.P178H|ZNF239_uc009xmk.2_Missense_Mutation_p.P178H	49	GBM-06-0213-TP	p.P178H	G	ATGGTCACAGGGTTTCTCCTC	NM_005674	NP_005665	44052995	Q16600	ZN239_HUMAN	0			2	1186	-	T	T			Missense_Mutation	178						
ZNF248	57209	broad.mit.edu	GRCh37	10	38126948	38126948	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-02-0055-01	TCGA-02-0055-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395867.3:c.107T>C	p.Val36Ala	p.V36A	ENST00000395867	NM_001267606.1	36	gTg/gCg	0			1			G	V/A	uc001izd.1	protein_coding		CCDS7194.1			107/1740									ovary(1)	1	c.(106-108)GTG>GCG			Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF68,SMART_domains:SM00349	zinc finger protein 248				ENSP00000349882		6-Apr									COSM1956653	6-Apr	.		ENST00000357328	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000198105	g.chr10:38126948A>G	13041			MODERATE		3.94	high	getma.org/?cm=msa&ty=f&p=ZN248_HUMAN&rb=8&re=48&var=V36A	getma.org/pdb.php?prot=ZN248_HUMAN&from=8&to=48&var=V36A	getma.org/?cm=var&var=hg19,10,38126948,A,G&fts=all	V36A	--	--	1																																		ZNF248_uc009xmc.2_Missense_Mutation_p.V36A|ZNF248_uc001izb.2_RNA|ZNF248_uc001izc.2_Missense_Mutation_p.V36A|ZNF248_uc010qeu.1_Missense_Mutation_p.V36A	1			benign(0.389)	p.V36A	NM_021045	NP_066383		deleterious(0.03)	1	ZN248_HUMAN	ZNF248	HGNC	Q8NDW4	ZN248_HUMAN			Q9UMP4_HUMAN,B4DF82_HUMAN,B1AL42_HUMAN,B1AL40_HUMAN,A2RUI7_HUMAN		4	606	-			UPI000006CF12	36			KRAB.		SNV	ZNF248,missense_variant,p.Val36Ala,ENST00000395867,NM_001267606.1,NM_001267605.1,NM_021045.2,NM_001267607.1;ZNF248,missense_variant,p.Val36Ala,ENST00000357328,NM_001267597.1;ZNF248,missense_variant,p.Val36Ala,ENST00000374648,;ZNF248,missense_variant,p.Val36Ala,ENST00000395873,;ZNF248,missense_variant,p.Val36Ala,ENST00000395874,;ZNF248,non_coding_transcript_exon_variant,,ENST00000494133,;ZNF248,missense_variant,p.Val36Ala,ENST00000485560,;	uc001izd.1	c.107T>C	312/2025	3	3			c.107T>C						10	SNP	c.(106-108)GTG>GCG	6	6			ovary(1)	1	Broad	zinc finger protein 248			38126948		0.413	ENSG00000198105	17534	g.chr10:38126948A>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							304.36504	KEEP	42	65	-1	55	58	42	65	-1	304.369952	55	58	0.495	1	0	0	0	0	1	0	0	0	--	--		0	G			ZNF248_uc009xmc.2_Missense_Mutation_p.V36A|ZNF248_uc001izb.2_RNA|ZNF248_uc001izc.2_Missense_Mutation_p.V36A|ZNF248_uc010qeu.1_Missense_Mutation_p.V36A	4	GBM-02-0055-TP	p.V36A	A	TTCCAGGATCACATCTCTGTA	NM_021045	NP_066383	38126948	Q8NDW4	ZN248_HUMAN	0			4	606	-	G	G			Missense_Mutation	36			KRAB.			
ZNF250	0	broad.mit.edu	GRCh37	8	146108024	146108024	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-19-5950-01	TCGA-19-5950-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000292579.7:c.559A>G	p.Thr187Ala	p.T187A	ENST00000292579	NM_021061.4	187	Act/Gct	0			1			C	T/A	uc003zeq.3	protein_coding	YES	CCDS34972.1			559/1683										0	c.(559-561)ACT>GCT			hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF112,Superfamily_domains:SSF57667	zinc finger protein 250 isoform a				ENSP00000292579		6-Jun									COSM3412875	6-Jun	.		ENST00000292579	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000196150	g.chr8:146108024T>C	13044			MODERATE		0.86	low	getma.org/?cm=msa&ty=f&p=ZN250_HUMAN&rb=63&re=212&var=T187A	getma.org/pdb.php?prot=ZN250_HUMAN&from=63&to=212&var=T187A	getma.org/?cm=var&var=hg19,8,146108024,T,C&fts=all	T187A	--	--	1																																		COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.3_Missense_Mutation_p.T182A|ZNF250_uc010mgg.2_Missense_Mutation_p.T182A	1	1		benign(0.001)	p.T187A	NM_021061	NP_066405		tolerated(0.83)	1	ZN250_HUMAN	ZNF250	HGNC	P15622	ZN250_HUMAN	Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)			6	676	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		UPI0000197F51	187					SNV	ZNF250,missense_variant,p.Thr187Ala,ENST00000292579,NM_021061.4,NM_001109689.3;ZNF250,missense_variant,p.Thr182Ala,ENST00000417550,;ZNF250,missense_variant,p.Thr161Ala,ENST00000533221,;ZNF250,intron_variant,,ENST00000342660,;ZNF250,intron_variant,,ENST00000543949,;ZNF250,downstream_gene_variant,,ENST00000533622,;ZNF250,downstream_gene_variant,,ENST00000525694,;ZNF250,intron_variant,,ENST00000533543,;ZNF250,intron_variant,,ENST00000529780,;ZNF250,intron_variant,,ENST00000528258,;	uc003zeq.3	c.559A>G	676/6364	3	3			c.559A>G						8	SNP	c.(559-561)ACT>GCT	2	2				0	Broad	zinc finger protein 250 isoform a			146108024		0.498	ENSG00000196150	17536	g.chr8:146108024T>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	NSCLC(16;520 556 24096 40084 43446)			NSCLC(16;520 556 24096 40084 43446)			135.730627	KEEP	20	22	-1	30	28	20	22	-1	136.179482	30	28	0.427083	1	0	0	0	0	1	0	0	0	--	--		0	C			COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.3_Missense_Mutation_p.T182A|ZNF250_uc010mgg.2_Missense_Mutation_p.T182A	170	GBM-19-5950-TP	p.T187A	T	TGGTGCGGAGTGAGTGGCATG	NM_021061	NP_066405	146108024	P15622	ZN250_HUMAN	0	Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)	6	676	-	C	C	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	187						
ZNF254	9534	broad.mit.edu	GRCh37	19	24310730	24310730	+	missense_variant	Missense_Mutation	SNP	C	C	G	rs144271497		TCGA-06-0211-01	TCGA-06-0211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357002.4:c.1928C>G	p.Ser643Trp	p.S643W	ENST00000357002	NM_203282.3	643	tCg/tGg	0			1			G	S/W	uc002nru.2	protein_coding	YES	CCDS32983.1			1928/1980										0	c.(1927-1929)TCG>TGG			Gene3D:3.30.160.60,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF153,Superfamily_domains:SSF57667	zinc finger protein 254				ENSP00000349494		4-Apr									COSM2150797	4-Apr	.		ENST00000357002	Transcript			negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000213096	g.chr19:24310730C>G	13047			MODERATE		3.135	medium	getma.org/?cm=msa&ty=f&p=ZN254_HUMAN&rb=612&re=659&var=S643W	getma.org/pdb.php?prot=ZN254_HUMAN&from=642&to=659&var=S643W	getma.org/?cm=var&var=hg19,19,24310730,C,G&fts=all	S643W	--	--	1																																		ZNF254_uc010xrk.1_Missense_Mutation_p.S558W	1	1		possibly_damaging(0.858)	p.S643W	NM_203282	NP_975011		deleterious(0)	1	ZN254_HUMAN	ZNF254	HGNC	O75437	ZN254_HUMAN			F5H2M4_HUMAN		4	2062	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	UPI0000366DB6	643					SNV	ZNF254,missense_variant,p.Ser643Trp,ENST00000357002,NM_203282.3,NM_001278677.1,NM_001278664.1,NM_001278661.1,NM_001278662.1;ZNF254,missense_variant,p.Ser558Trp,ENST00000342944,NM_001278663.1,NM_001278678.1;ZNF254,downstream_gene_variant,,ENST00000594886,;ZNF254,downstream_gene_variant,,ENST00000595187,;	uc002nru.2	c.1928C>G	2043/3967	3	3			c.1928C>G						19	SNP	c.(1927-1929)TCG>TGG	57	57				0	Broad	zinc finger protein 254			24310730		0.378	ENSG00000213096	17539	g.chr19:24310730C>G	negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							217.072087	KEEP	37	44	-1	125	133	37	44	-1	233.40392	125	133	0.245487	1	0	0	0	0	1	0	0	0	--	--		0	G			ZNF254_uc010xrk.1_Missense_Mutation_p.S558W	48	GBM-06-0211-TP	p.S643W	C	AATCGGTCCTCGCACCTCACC	NM_203282	NP_975011	24310730	O75437	ZN254_HUMAN	0			4	2062	+	G	G		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	Missense_Mutation	643						
ZNF254	9534	broad.mit.edu	GRCh37	19	24310666	24310666	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0221-01	TCGA-06-0221-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357002.4:c.1864A>G	p.Arg622Gly	p.R622G	ENST00000357002	NM_203282.3	622	Aga/Gga	0			1			G	R/G	uc002nru.2	protein_coding	YES	CCDS32983.1			1864/1980										0	c.(1864-1866)AGA>GGA			Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF153,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	zinc finger protein 254				ENSP00000349494		4-Apr									COSM2151019	4-Apr	.		ENST00000357002	Transcript			negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000213096	g.chr19:24310666A>G	13047			MODERATE		2.245	medium	getma.org/?cm=msa&ty=f&p=ZN254_HUMAN&rb=596&re=659&var=R622G	getma.org/pdb.php?prot=ZN254_HUMAN&from=616&to=641&var=R622G	getma.org/?cm=var&var=hg19,19,24310666,A,G&fts=all	R622G	--	--	1																																		ZNF254_uc010xrk.1_Missense_Mutation_p.R537G	1	1		benign(0.007)	p.R622G	NM_203282	NP_975011		tolerated(0.18)	1	ZN254_HUMAN	ZNF254	HGNC	O75437	ZN254_HUMAN			F5H2M4_HUMAN		4	1998	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	UPI0000366DB6	622			C2H2-type 15.		SNV	ZNF254,missense_variant,p.Arg622Gly,ENST00000357002,NM_203282.3,NM_001278677.1,NM_001278664.1,NM_001278661.1,NM_001278662.1;ZNF254,missense_variant,p.Arg537Gly,ENST00000342944,NM_001278663.1,NM_001278678.1;ZNF254,downstream_gene_variant,,ENST00000594886,;ZNF254,downstream_gene_variant,,ENST00000595187,;	uc002nru.2	c.1864A>G	1979/3967	3	3			c.1864A>G						19	SNP	c.(1864-1866)AGA>GGA	60	60				0	Broad	zinc finger protein 254			24310666		0.383	ENSG00000213096	17539	g.chr19:24310666A>G	negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							442.107907	KEEP	56	77	-1	41	42	56	77	-1	443.717282	41	42	0.596939	1	0	0	0	0	1	0	0	0	--	--		0	G			ZNF254_uc010xrk.1_Missense_Mutation_p.R537G	53	GBM-06-0221-TP	p.R622G	A	TAAACATAAGAGAATTCATAC	NM_203282	NP_975011	24310666	O75437	ZN254_HUMAN	0			4	1998	+	G	G		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	Missense_Mutation	622			C2H2-type 15.			
ZNF257	0	broad.mit.edu	GRCh37	19	22271312	22271312	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000594947.1:c.760G>A	p.Glu254Lys	p.E254K	ENST00000594947	NM_033468.2	254	Gag/Aag	0	A:0		1			A	E/K	uc010ecx.2	protein_coding	YES	CCDS46030.1			760/1692										0	c.(760-762)GAG>AAG			PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF109,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	zinc finger protein 257			A:0.0002	ENSP00000470209		4-Apr	8.25E-06					1.51E-05			rs371623333,COSM2747770	4-Apr	.		ENST00000594947	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000197134	g.chr19:22271312G>A	13498			MODERATE		2.395	medium	getma.org/?cm=msa&ty=f&p=ZN257_HUMAN&rb=223&re=288&var=E254K	getma.org/pdb.php?prot=ZN257_HUMAN&from=243&to=268&var=E254K	getma.org/?cm=var&var=hg19,19,22271312,G,A&fts=all	E254K	--	--	1																																		ZNF257_uc010ecy.2_Missense_Mutation_p.E222K	0,1	1		possibly_damaging(0.605)	p.E254K	NM_033468	NP_258429		tolerated(0.14)	0,1	ZN257_HUMAN	ZNF257	HGNC	Q9Y2Q1	ZN257_HUMAN			M0R0N1_HUMAN		4	929	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	UPI0000E045CA	254					SNV	ZNF257,missense_variant,p.Glu254Lys,ENST00000594947,NM_033468.2;ZNF257,downstream_gene_variant,,ENST00000600162,;ZNF257,downstream_gene_variant,,ENST00000597927,;ZNF257,3_prime_UTR_variant,,ENST00000435820,;	uc010ecx.2	c.760G>A	904/3874	2	2			c.760G>A						19	SNP	c.(760-762)GAG>AAG	46	46				0	Broad	zinc finger protein 257			22271312		0.388	ENSG00000197134	17541	g.chr19:22271312G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							42.389977	KEEP	8	10	-1	34	32	8	10	-1	48.543562	34	32	0.216867	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF257_uc010ecy.2_Missense_Mutation_p.E222K	232	GBM-32-1982-TP	p.E254K	G	TCATACTAGAGAGAAACCCTA	NM_033468	NP_258429	22271312	Q9Y2Q1	ZN257_HUMAN	0			4	929	+	A	A		all_lung(12;0.0961)|Lung NSC(12;0.103)	Missense_Mutation	254						
ZNF257	113835		GRCh37	19	22270778	22270778	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000594947.1:c.227-1G>A		p.X76_splice	ENST00000594947	NM_033468.2	76		0																																																																																																																																																																																																																																												
ZNF263	10127	broad.mit.edu	GRCh37	16	3339555	3339555	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-5410-01	TCGA-06-5410-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000219069.5:c.1049A>G	p.Glu350Gly	p.E350G	ENST00000219069	NM_005741.4	350	gAg/gGg	0			1			G	E/G	uc002cuq.2	protein_coding	YES	CCDS10499.1			1049/2052									skin(3)|ovary(1)	4	c.(1048-1050)GAG>GGG			hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF50	zinc finger protein 263				ENSP00000219069		6-Jun									COSM3747998	6-Jun	.		ENST00000219069	Transcript			viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000006194	g.chr16:3339555A>G	13056			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=ZN263_HUMAN&rb=258&re=377&var=E350G	NA	getma.org/?cm=var&var=hg19,16,3339555,A,G&fts=all	E350G	--	--	1																																		ZNF263_uc010uww.1_5'UTR|ZNF263_uc002cur.2_5'UTR	1	1		benign(0.007)	p.E350G	NM_005741	NP_005732		tolerated(0.07)	1	ZN263_HUMAN	ZNF263	HGNC	O14978	ZN263_HUMAN			B4DI05_HUMAN		6	1381	+			UPI000013C33A	350					SNV	ZNF263,missense_variant,p.Glu350Gly,ENST00000219069,NM_005741.4;ZNF263,missense_variant,p.Arg184Gly,ENST00000574253,;ZNF263,5_prime_UTR_variant,,ENST00000538765,;ZNF263,3_prime_UTR_variant,,ENST00000575823,;ZNF263,upstream_gene_variant,,ENST00000575332,;ZNF263,downstream_gene_variant,,ENST00000573578,;ZNF263,downstream_gene_variant,,ENST00000572748,;ZNF263,upstream_gene_variant,,ENST00000574674,;	uc002cuq.2	c.1049A>G	1925/3830	4	4			c.1049A>G						16	SNP	c.(1048-1050)GAG>GGG	17	17			skin(3)|ovary(1)	4	Broad	zinc finger protein 263			3339555		0.617	ENSG00000006194	17545	g.chr16:3339555A>G	viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							21.378178	KEEP	4	9	-1	40	40	4	9	-1	32.613098	40	40	0.136364	1	0	0	0	0	1	0	0	0	--	--		0	G			ZNF263_uc010uww.1_5'UTR|ZNF263_uc002cur.2_5'UTR	93	GBM-06-5410-TP	p.E350G	A	CCTCCCCCAGAGGGTGGAATG	NM_005741	NP_005732	3339555	O14978	ZN263_HUMAN	0			6	1381	+	G	G			Missense_Mutation	350						
ZNF263	0	broad.mit.edu	GRCh37	16	3339694	3339694	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-27-1838-01	TCGA-27-1838-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000219069.5:c.1188C>A	p.His396Gln	p.H396Q	ENST00000219069	NM_005741.4	396	caC/caA	0			1			A	H/Q	uc002cuq.2	protein_coding	YES	CCDS10499.1			1188/2052									skin(3)|ovary(1)	4	c.(1186-1188)CAC>CAA			Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF50,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 263				ENSP00000219069		6-Jun									COSM3402312	6-Jun	.		ENST00000219069	Transcript			viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000006194	g.chr16:3339694C>A	13056			MODERATE		3.635	high	getma.org/?cm=msa&ty=f&p=ZN263_HUMAN&rb=358&re=420&var=H396Q	getma.org/pdb.php?prot=ZN263_HUMAN&from=378&to=400&var=H396Q	getma.org/?cm=var&var=hg19,16,3339694,C,A&fts=all	H396Q	--	--	1																																		ZNF263_uc010uww.1_Missense_Mutation_p.H44Q|ZNF263_uc002cur.2_Missense_Mutation_p.H44Q	1	1		probably_damaging(0.996)	p.H396Q	NM_005741	NP_005732		deleterious(0)	1	ZN263_HUMAN	ZNF263	HGNC	O14978	ZN263_HUMAN			B4DI05_HUMAN		6	1520	+			UPI000013C33A	396			C2H2-type 1.		SNV	ZNF263,missense_variant,p.His396Gln,ENST00000219069,NM_005741.4;ZNF263,missense_variant,p.His44Gln,ENST00000538765,;ZNF263,3_prime_UTR_variant,,ENST00000574253,;ZNF263,3_prime_UTR_variant,,ENST00000575823,;ZNF263,upstream_gene_variant,,ENST00000575332,;ZNF263,downstream_gene_variant,,ENST00000573578,;ZNF263,downstream_gene_variant,,ENST00000572748,;ZNF263,upstream_gene_variant,,ENST00000574674,;	uc002cuq.2	c.1188C>A	2064/3830	2	2			c.1188C>A						16	SNP	c.(1186-1188)CAC>CAA	33	33			skin(3)|ovary(1)	4	Broad	zinc finger protein 263			3339694		0.478	ENSG00000006194	17545	g.chr16:3339694C>A	viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							238.040178	KEEP	49	41	0.455555556	68	66	49	41	0.455555556	240.265554	68	66	0.386935	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF263_uc010uww.1_Missense_Mutation_p.H44Q|ZNF263_uc002cur.2_Missense_Mutation_p.H44Q	197	GBM-27-1838-TP	p.H396Q	C	TAATTAGGCACCAGAGAATAC	NM_005741	NP_005732	3339694	O14978	ZN263_HUMAN	0			6	1520	+	A	A			Missense_Mutation	396			C2H2-type 1.			
ZNF263	0	broad.mit.edu	GRCh37	16	3339529	3339529	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-4210-01	TCGA-32-4210-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000219069.5:c.1023G>A	p.Ser341=	p.S341=	ENST00000219069	NM_005741.4	341	tcG/tcA	0			1			A	S	uc002cuq.2	protein_coding	YES	CCDS10499.1			1023/2052									skin(3)|ovary(1)	4	c.(1021-1023)TCG>TCA			hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF50	zinc finger protein 263				ENSP00000219069		6-Jun	7.41E-05		0.000174			3.11E-05		0.000475	rs749020148,COSM3402311	6-Jun	common_variant		ENST00000219069	Transcript			viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000006194	g.chr16:3339529G>A	13056			LOW								--	--	1																																		ZNF263_uc010uww.1_5'UTR|ZNF263_uc002cur.2_5'UTR	0,1	1			p.S341S	NM_005741	NP_005732			0,1	ZN263_HUMAN	ZNF263	HGNC	O14978	ZN263_HUMAN			B4DI05_HUMAN		6	1355	+			UPI000013C33A	341					SNV	ZNF263,missense_variant,p.Arg175His,ENST00000574253,;ZNF263,synonymous_variant,p.=,ENST00000219069,NM_005741.4;ZNF263,5_prime_UTR_variant,,ENST00000538765,;ZNF263,3_prime_UTR_variant,,ENST00000575823,;ZNF263,upstream_gene_variant,,ENST00000575332,;ZNF263,downstream_gene_variant,,ENST00000573578,;ZNF263,downstream_gene_variant,,ENST00000572748,;ZNF263,upstream_gene_variant,,ENST00000574674,;	uc002cuq.2	c.1023G>A	1899/3830	1	1			c.1023G>A						16	SNP	c.(1021-1023)TCG>TCA	54	54			skin(3)|ovary(1)	4	Broad	zinc finger protein 263			3339529		0.632	ENSG00000006194	17545	g.chr16:3339529G>A	viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							60.666642	KEEP	15	14	-1	48	42	15	14	-1	67.70312	48	42	0.238938	1	0	0	0	0	0	0	1	0	--	--		0	A			ZNF263_uc010uww.1_5'UTR|ZNF263_uc002cur.2_5'UTR	245	GBM-32-4210-TP	p.S341S	G	ATGACCGGTCGCAAGGGGATT	NM_005741	NP_005732	3339529	O14978	ZN263_HUMAN	0			6	1355	+	A	A			Silent	341						
ZNF264	9422	broad.mit.edu	GRCh37	19	57722987	57722987	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0875-01	TCGA-06-0875-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000263095.6:c.522G>A	p.Glu174=	p.E174=	ENST00000263095	NM_003417.4	174	gaG/gaA	0			1			A	E	uc002qob.2	protein_coding	YES	CCDS33127.1			522/1884									ovary(2)	2	c.(520-522)GAG>GAA			hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF96	zinc finger protein 264				ENSP00000263095		4-Apr	8.24E-06					1.50E-05			rs754446379,COSM2151989	4-Apr	.		ENST00000263095	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000083844	g.chr19:57722987G>A	13057			LOW								--	--	1																																			0,1	1			p.E174E	NM_003417	NP_003408			0,1	ZN264_HUMAN	ZNF264	HGNC	O43296	ZN264_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)	M0QXF3_HUMAN		4	935	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	UPI000013C33B	174					SNV	ZNF264,synonymous_variant,p.=,ENST00000263095,NM_003417.4;ZNF264,synonymous_variant,p.=,ENST00000536056,;ZNF264,downstream_gene_variant,,ENST00000597447,;	uc002qob.2	c.522G>A	936/2673	1	1			c.522G>A						19	SNP	c.(520-522)GAG>GAA	49	49			ovary(2)	2	Broad	zinc finger protein 264			57722987		0.463	ENSG00000083844	17546	g.chr19:57722987G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							19.608242	KEEP	10	6	-1	25	34	10	6	-1	26.377298	25	34	0.16129	1	0	0	0	0	0	0	1	0	--	--		0	A				71	GBM-06-0875-TP	p.E174E	G	TTGGACAGGAGCAAGTCTCTC	NM_003417	NP_003408	57722987	O43296	ZN264_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)	4	935	+	A	A		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	Silent	174						
ZNF274	0	broad.mit.edu	GRCh37	19	58723892	58723892	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-32-2495-01	TCGA-32-2495-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326804.4:c.1342C>T	p.Arg448Ter	p.R448*	ENST00000326804	NM_133502.2	448	Cga/Tga	0			1			T	R/*	uc002qrq.1	protein_coding	YES				1342/1959									ovary(1)	1	c.(1345-1347)CGA>TGA			hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF47	zinc finger protein 274 isoform c				ENSP00000321209		9-Sep									COSM3404723,COSM3404722	9-Sep	.		ENST00000326804	Transcript			viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	ENSG00000171606	g.chr19:58723892C>T	13068			HIGH								--	--	1																																		ZNF274_uc002qrr.1_Nonsense_Mutation_p.R417*|ZNF274_uc002qrs.1_Nonsense_Mutation_p.R344*|ZNF274_uc010eum.1_Nonsense_Mutation_p.R208*	1,1	1			p.R449*	NM_133502	NP_598009			1,1	ZN274_HUMAN	ZNF274	HGNC	Q96GC6	ZN274_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)	M0QY30_HUMAN,M0QXW4_HUMAN		10	1804	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)	UPI000013D855	449					SNV	ZNF274,stop_gained,p.Arg448Ter,ENST00000326804,NM_133502.2,NM_001278734.1;ZNF274,stop_gained,p.Arg416Ter,ENST00000345813,NM_016325.3,NM_001278735.1;ZNF274,stop_gained,p.Arg343Ter,ENST00000424679,NM_016324.3;ZNF274,non_coding_transcript_exon_variant,,ENST00000597818,;ZNF274,non_coding_transcript_exon_variant,,ENST00000599438,;ZNF274,non_coding_transcript_exon_variant,,ENST00000595146,;ZNF274,downstream_gene_variant,,ENST00000599081,;ZNF274,downstream_gene_variant,,ENST00000601156,;ZNF274,downstream_gene_variant,,ENST00000598143,;RPS15AP36,upstream_gene_variant,,ENST00000492022,;	uc002qrq.1	c.1345C>T	1801/2836	5	2			c.1345C>T						19	SNP	c.(1345-1347)CGA>TGA	22	22			ovary(1)	1	Broad	zinc finger protein 274 isoform c			58723892		0.428	ENSG00000171606	17551	g.chr19:58723892C>T	viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding							96.059256	KEEP	23	22	-1	79	114	23	22	-1	110.627961	79	114	0.215385	1	0	0	0	0	0	1	0	0	--	--		0	T			ZNF274_uc002qrr.1_Nonsense_Mutation_p.R417*|ZNF274_uc002qrs.1_Nonsense_Mutation_p.R344*|ZNF274_uc010eum.1_Nonsense_Mutation_p.R208*	237	GBM-32-2495-TP	p.R449*	C	TCCTAGAAAACGATTGCGCAA	NM_133502	NP_598009	58723892	Q96GC6	ZN274_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)	10	1804	+	T	T		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)	Nonsense_Mutation	449						
ZNF275	0	broad.mit.edu	GRCh37	X	152613030	152613030	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370251.3:c.887C>T	p.Pro296Leu	p.P296L	ENST00000370251	NM_001080485.3	296	cCc/cTc	0	T:0.0003		1			T	P/L	uc004fhg.1	protein_coding	YES				887/990									ovary(1)	1	c.(886-888)CCC>CTC			Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24409,hmmpanther:PTHR24409:SF13,SMART_domains:SM00355,Superfamily_domains:SSF57667	SubName: Full=cDNA FLJ16723 fis, clone UTERU3004418, highly similar to Zinc finger protein 275; SubName: Full=Putative uncharacterized protein ZNF275;			T:0	ENSP00000359271		5-Apr	3.31E-05	0.000477							rs370916699,COSM3406096,COSM3406095	5-Apr	common_variant		ENST00000370251	Transcript				intracellular	nucleic acid binding|zinc ion binding	ENSG00000063587	g.chrX:152613030C>T	13069			MODERATE		0.46	neutral	getma.org/?cm=msa&ty=f&p=ZN275_HUMAN&rb=276&re=306&var=P296L	getma.org/pdb.php?prot=ZN275_HUMAN&from=276&to=306&var=P296L	getma.org/?cm=var&var=hg19,X,152613030,C,T&fts=all	P296L	2.495	medium	1																																		ZNF275_uc011mym.1_Missense_Mutation_p.P296L|ZNF275_uc011myn.1_Missense_Mutation_p.P233L	0,1,1	1		benign(0.01)	p.P296L				tolerated(0.33)	0,1,1		ZNF275	HGNC	A6NFS0	A6NFS0_HUMAN			A6NFS0_HUMAN		4	1064	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		UPI000059DBB5	296					SNV	ZNF275,missense_variant,p.Pro296Leu,ENST00000421401,;ZNF275,missense_variant,p.Pro326Leu,ENST00000440091,;ZNF275,missense_variant,p.Pro296Leu,ENST00000370251,NM_001080485.3;ZNF275,missense_variant,p.Pro243Leu,ENST00000370249,;snoU13,upstream_gene_variant,,ENST00000459572,;ZNF275,upstream_gene_variant,,ENST00000438239,;	uc004fhg.1	c.887C>T	1064/6320	2	2			c.887C>T						23	SNP	c.(886-888)CCC>CTC	31	31			ovary(1)	1	Broad	SubName: Full=cDNA FLJ16723 fis, clone UTERU3004418, highly similar to Zinc finger protein 275; SubName: Full=Putative uncharacterized protein ZNF275;			152613030		0.682	ENSG00000063587	17552	g.chrX:152613030C>T		intracellular	nucleic acid binding|zinc ion binding							18.745981	KEEP	2	5	-1	9	8	2	5	-1	18.877433	9	8	0.4	1	0	0	0	0	1	0	0	0	2.495	medium		0	T			ZNF275_uc011mym.1_Missense_Mutation_p.P296L|ZNF275_uc011myn.1_Missense_Mutation_p.P233L	129	GBM-12-5295-TP	p.P296L	C	TACGGGTGTCCCCACTGCGGC			152613030	A6NFS0	A6NFS0_HUMAN	0			4	1064	+	T	T	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	296						
ZNF275	0	broad.mit.edu	GRCh37	X	152612297	152612297	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-6450-01	TCGA-28-6450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370251.3:c.154C>T	p.His52Tyr	p.H52Y	ENST00000370251	NM_001080485.3	52	Cac/Tac	0			1			T	H/Y	uc004fhg.1	protein_coding	YES				154/990									ovary(1)	1	c.(154-156)CAC>TAC				SubName: Full=cDNA FLJ16723 fis, clone UTERU3004418, highly similar to Zinc finger protein 275; SubName: Full=Putative uncharacterized protein ZNF275;				ENSP00000359271		5-Apr									COSM3406094	5-Apr	.		ENST00000370251	Transcript				intracellular	nucleic acid binding|zinc ion binding	ENSG00000063587	g.chrX:152612297C>T	13069			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=ZN275_HUMAN&rb=1&re=100&var=H52Y	NA	getma.org/?cm=var&var=hg19,X,152612297,C,T&fts=all	H52Y	--	--	1																																		ZNF275_uc011mym.1_Missense_Mutation_p.H52Y|ZNF275_uc011myn.1_5'UTR	1	1		benign(0.099)	p.H52Y				tolerated(0.69)	1		ZNF275	HGNC	A6NFS0	A6NFS0_HUMAN			A6NFS0_HUMAN		4	331	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		UPI000059DBB5	52					SNV	ZNF275,missense_variant,p.His52Tyr,ENST00000421401,;ZNF275,missense_variant,p.His82Tyr,ENST00000440091,;ZNF275,missense_variant,p.His52Tyr,ENST00000370251,NM_001080485.3;ZNF275,5_prime_UTR_variant,,ENST00000370249,;snoU13,upstream_gene_variant,,ENST00000459572,;	uc004fhg.1	c.154C>T	331/6320	2	2			c.154C>T						23	SNP	c.(154-156)CAC>TAC	17	17			ovary(1)	1	Broad	SubName: Full=cDNA FLJ16723 fis, clone UTERU3004418, highly similar to Zinc finger protein 275; SubName: Full=Putative uncharacterized protein ZNF275;			152612297		0.552	ENSG00000063587	17552	g.chrX:152612297C>T		intracellular	nucleic acid binding|zinc ion binding							50.905998	KEEP	8	11	-1	2	6	8	11	-1	51.495664	2	6	0.666667	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF275_uc011mym.1_Missense_Mutation_p.H52Y|ZNF275_uc011myn.1_5'UTR	227	GBM-28-6450-TP	p.H52Y	C	CGCGACCCGACACCAGATGAA			152612297	A6NFS0	A6NFS0_HUMAN	0			4	331	+	T	T	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		Missense_Mutation	52						
ZNF28	7576	broad.mit.edu	GRCh37	19	53303147	53303147	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs146037495		TCGA-06-0141-01	TCGA-06-0141-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000457749.2:c.1951G>A	p.Val651Ile	p.V651I	ENST00000457749	NM_006969.3	651	Gta/Ata	0	G:0		1			T	V/I	uc002qad.2	protein_coding	YES	CCDS33093.2			1951/2157									skin(1)	1	c.(1951-1953)GTA>ATA			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF226,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 28			G:0.0001	ENSP00000397693		4-Apr	8.24E-06							6.06E-05	rs146037495,COSM2927859,COSM2927858,COSM2927857	4-Apr	.		ENST00000457749	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000198538	g.chr19:53303147C>T	13073			MODERATE		-0.05	neutral	getma.org/?cm=msa&ty=f&p=ZNF28_HUMAN&rb=629&re=694&var=V651I	getma.org/pdb.php?prot=ZNF28_HUMAN&from=649&to=674&var=V651I	getma.org/?cm=var&var=hg19,19,53303147,C,T&fts=all	V651I	--	--	1																																		ZNF28_uc002qac.2_Missense_Mutation_p.V598I|ZNF28_uc010eqe.2_Missense_Mutation_p.V597I	0,1,1,1	1		benign(0.265)	p.V651I	NM_006969	NP_008900		tolerated(0.21)	0,1,1,1	ZNF28_HUMAN	ZNF28	HGNC	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	C9K0H3_HUMAN		4	2071	-			UPI00001D8190	651			C2H2-type 16.		SNV	ZNF28,missense_variant,p.Val598Ile,ENST00000438150,;ZNF28,missense_variant,p.Val651Ile,ENST00000457749,NM_006969.3;ZNF28,missense_variant,p.Val598Ile,ENST00000360272,;ZNF28,missense_variant,p.Val598Ile,ENST00000414252,;ZNF28,downstream_gene_variant,,ENST00000391783,;ZNF28,downstream_gene_variant,,ENST00000594602,;ZNF28,downstream_gene_variant,,ENST00000339844,;ZNF28,downstream_gene_variant,,ENST00000596559,;	uc002qad.2	c.1951G>A	2071/4556	2	2			c.1951G>A						19	SNP	c.(1951-1953)GTA>ATA	21	21			skin(1)	1	Broad	zinc finger protein 28			53303147		0.423	ENSG00000198538	17555	g.chr19:53303147C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							13.054149	KEEP	15	18	-1	177	137	15	18	-1	65.54434	177	137	0.090323	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF28_uc002qac.2_Missense_Mutation_p.V598I|ZNF28_uc010eqe.2_Missense_Mutation_p.V597I	21	GBM-06-0141-TP	p.V651I	C	TGATGGTATACGAGGGATGAC	NM_006969	NP_008900	53303147	P17035	ZNF28_HUMAN	0		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	4	2071	-	T	T			Missense_Mutation	651			C2H2-type 16.			
ZNF28	7576	broad.mit.edu	GRCh37	19	53303202	53303202	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000457749.2:c.1896G>C	p.Glu632Asp	p.E632D	ENST00000457749	NM_006969.3	632	gaG/gaC	0			1			G	E/D	uc002qad.2	protein_coding	YES	CCDS33093.2			1896/2157									skin(1)	1	c.(1894-1896)GAG>GAC			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF226,Superfamily_domains:SSF57667	zinc finger protein 28				ENSP00000397693		4-Apr									COSM2151446,COSM2151445,COSM2151444	4-Apr	.		ENST00000457749	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000198538	g.chr19:53303202C>G	13073			MODERATE		0.765	neutral	getma.org/?cm=msa&ty=f&p=ZNF28_HUMAN&rb=601&re=666&var=E632D	getma.org/pdb.php?prot=ZNF28_HUMAN&from=621&to=646&var=E632D	getma.org/?cm=var&var=hg19,19,53303202,C,G&fts=all	E632D	--	--	1																																		ZNF28_uc002qac.2_Missense_Mutation_p.E579D|ZNF28_uc010eqe.2_Missense_Mutation_p.E578D	1,1,1	1		possibly_damaging(0.605)	p.E632D	NM_006969	NP_008900		deleterious(0.01)	1,1,1	ZNF28_HUMAN	ZNF28	HGNC	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	C9K0H3_HUMAN		4	2016	-			UPI00001D8190	632					SNV	ZNF28,missense_variant,p.Glu579Asp,ENST00000438150,;ZNF28,missense_variant,p.Glu632Asp,ENST00000457749,NM_006969.3;ZNF28,missense_variant,p.Glu579Asp,ENST00000360272,;ZNF28,missense_variant,p.Glu579Asp,ENST00000414252,;ZNF28,downstream_gene_variant,,ENST00000391783,;ZNF28,downstream_gene_variant,,ENST00000594602,;ZNF28,downstream_gene_variant,,ENST00000339844,;ZNF28,downstream_gene_variant,,ENST00000596559,;	uc002qad.2	c.1896G>C	2016/4556	4	4			c.1896G>C						19	SNP	c.(1894-1896)GAG>GAC	32	32			skin(1)	1	Broad	zinc finger protein 28			53303202		0.433	ENSG00000198538	17555	g.chr19:53303202C>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							397.914319	KEEP	67	78	-1	168	133	67	78	-1	407.660874	168	133	0.329815	1	0	0	0	0	1	0	0	0	--	--		0	G			ZNF28_uc002qac.2_Missense_Mutation_p.E579D|ZNF28_uc010eqe.2_Missense_Mutation_p.E578D	62	GBM-06-0649-TP	p.E632D	C	TGTAAGGTTTCTCTCCAGTAT	NM_006969	NP_008900	53303202	P17035	ZNF28_HUMAN	0		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	4	2016	-	G	G			Missense_Mutation	632						
ZNF28	7576	broad.mit.edu	GRCh37	19	53304215	53304215	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000457749.2:c.883G>A	p.Ala295Thr	p.A295T	ENST00000457749	NM_006969.3	295	Gca/Aca	0			1			T	A/T	uc002qad.2	protein_coding	YES	CCDS33093.2			883/2157									skin(1)	1	c.(883-885)GCA>ACA			Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF226,Superfamily_domains:SSF57667	zinc finger protein 28				ENSP00000397693		4-Apr									COSM2151414,COSM2151413,COSM2151412	4-Apr	.		ENST00000457749	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000198538	g.chr19:53304215C>T	13073			MODERATE		0.45	neutral	getma.org/?cm=msa&ty=f&p=ZNF28_HUMAN&rb=253&re=328&var=A295T	getma.org/pdb.php?prot=ZNF28_HUMAN&from=283&to=298&var=A295T	getma.org/?cm=var&var=hg19,19,53304215,C,T&fts=all	A295T	--	--	1																																		ZNF28_uc002qac.2_Missense_Mutation_p.A242T|ZNF28_uc010eqe.2_Missense_Mutation_p.A241T	1,1,1	1		benign(0.002)	p.A295T	NM_006969	NP_008900		deleterious(0)	1,1,1	ZNF28_HUMAN	ZNF28	HGNC	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	C9K0H3_HUMAN		4	1003	-			UPI00001D8190	295					SNV	ZNF28,missense_variant,p.Ala242Thr,ENST00000438150,;ZNF28,missense_variant,p.Ala295Thr,ENST00000457749,NM_006969.3;ZNF28,missense_variant,p.Ala242Thr,ENST00000360272,;ZNF28,missense_variant,p.Ala242Thr,ENST00000414252,;ZNF28,missense_variant,p.Ala242Thr,ENST00000391783,;ZNF28,downstream_gene_variant,,ENST00000594602,;ZNF28,downstream_gene_variant,,ENST00000339844,;ZNF28,downstream_gene_variant,,ENST00000596559,;	uc002qad.2	c.883G>A	1003/4556	2	2			c.883G>A						19	SNP	c.(883-885)GCA>ACA	46	46			skin(1)	1	Broad	zinc finger protein 28			53304215		0.388	ENSG00000198538	17555	g.chr19:53304215C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							150.089427	KEEP	53	30	-1	82	84	53	30	-1	155.5941	82	84	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF28_uc002qac.2_Missense_Mutation_p.A242T|ZNF28_uc010eqe.2_Missense_Mutation_p.A241T	62	GBM-06-0649-TP	p.A295T	C	GGTTTGTCTGCAGTATGAAGC	NM_006969	NP_008900	53304215	P17035	ZNF28_HUMAN	0		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	4	1003	-	T	T			Missense_Mutation	295						
ZNF28	7576	broad.mit.edu	GRCh37	19	53304299	53304299	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000457749.2:c.799G>C	p.Asp267His	p.D267H	ENST00000457749	NM_006969.3	267	Gat/Cat	0			1			G	D/H	uc002qad.2	protein_coding	YES	CCDS33093.2			799/2157									skin(1)	1	c.(799-801)GAT>CAT			Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF226,Superfamily_domains:SSF57667	zinc finger protein 28				ENSP00000397693		4-Apr									COSM2151434,COSM2151433,COSM2151432	4-Apr	.		ENST00000457749	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000198538	g.chr19:53304299C>G	13073			MODERATE		1.49	low	getma.org/?cm=msa&ty=f&p=ZNF28_HUMAN&rb=237&re=302&var=D267H	getma.org/pdb.php?prot=ZNF28_HUMAN&from=257&to=282&var=D267H	getma.org/?cm=var&var=hg19,19,53304299,C,G&fts=all	D267H	--	--	1																																		ZNF28_uc002qac.2_Missense_Mutation_p.D214H|ZNF28_uc010eqe.2_Missense_Mutation_p.D213H	1,1,1	1		possibly_damaging(0.724)	p.D267H	NM_006969	NP_008900		deleterious(0)	1,1,1	ZNF28_HUMAN	ZNF28	HGNC	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	C9K0H3_HUMAN		4	919	-			UPI00001D8190	267					SNV	ZNF28,missense_variant,p.Asp214His,ENST00000438150,;ZNF28,missense_variant,p.Asp267His,ENST00000457749,NM_006969.3;ZNF28,missense_variant,p.Asp214His,ENST00000360272,;ZNF28,missense_variant,p.Asp214His,ENST00000414252,;ZNF28,missense_variant,p.Asp214His,ENST00000391783,;ZNF28,downstream_gene_variant,,ENST00000594602,;ZNF28,downstream_gene_variant,,ENST00000339844,;ZNF28,downstream_gene_variant,,ENST00000596559,;	uc002qad.2	c.799G>C	919/4556	4	4			c.799G>C						19	SNP	c.(799-801)GAT>CAT	22	22			skin(1)	1	Broad	zinc finger protein 28			53304299		0.398	ENSG00000198538	17555	g.chr19:53304299C>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							235.190892	KEEP	42	29	-1	63	49	42	29	-1	236.942933	63	49	0.391813	1	0	0	0	0	1	0	0	0	--	--		0	G			ZNF28_uc002qac.2_Missense_Mutation_p.D214H|ZNF28_uc010eqe.2_Missense_Mutation_p.D213H	62	GBM-06-0649-TP	p.D267H	C	GGTTTCTCATCAATGTGAGAT	NM_006969	NP_008900	53304299	P17035	ZNF28_HUMAN	0		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	4	919	-	G	G			Missense_Mutation	267						
ZNF28	7576	broad.mit.edu	GRCh37	19	53303413	53303413	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01	TCGA-06-2567-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000457749.2:c.1685G>A	p.Arg562His	p.R562H	ENST00000457749	NM_006969.3	562	cGc/cAc	0			1			T	R/H	uc002qad.2	protein_coding	YES	CCDS33093.2			1685/2157									skin(1)	1	c.(1684-1686)CGC>CAC			Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF226,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 28				ENSP00000397693		4-Apr	1.65E-05					1.50E-05		6.06E-05	rs746829005,COSM3404531,COSM3404530,COSM3404529	4-Apr	.		ENST00000457749	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000198538	g.chr19:53303413C>T	13073			MODERATE		0.825	low	getma.org/?cm=msa&ty=f&p=ZNF28_HUMAN&rb=535&re=564&var=R562H	getma.org/pdb.php?prot=ZNF28_HUMAN&from=535&to=564&var=R562H	getma.org/?cm=var&var=hg19,19,53303413,C,T&fts=all	R562H	--	--	1																																		ZNF28_uc002qac.2_Missense_Mutation_p.R509H|ZNF28_uc010eqe.2_Missense_Mutation_p.R508H	0,1,1,1	1		benign(0.332)	p.R562H	NM_006969	NP_008900		tolerated(0.76)	0,1,1,1	ZNF28_HUMAN	ZNF28	HGNC	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	C9K0H3_HUMAN		4	1805	-			UPI00001D8190	562			C2H2-type 13.		SNV	ZNF28,missense_variant,p.Arg509His,ENST00000438150,;ZNF28,missense_variant,p.Arg562His,ENST00000457749,NM_006969.3;ZNF28,missense_variant,p.Arg509His,ENST00000360272,;ZNF28,missense_variant,p.Arg509His,ENST00000414252,;ZNF28,missense_variant,p.Arg509His,ENST00000391783,;ZNF28,downstream_gene_variant,,ENST00000594602,;ZNF28,downstream_gene_variant,,ENST00000339844,;ZNF28,downstream_gene_variant,,ENST00000596559,;	uc002qad.2	c.1685G>A	1805/4556	2	2			c.1685G>A						19	SNP	c.(1684-1686)CGC>CAC	21	21			skin(1)	1	Broad	zinc finger protein 28			53303413		0.413	ENSG00000198538	17555	g.chr19:53303413C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-46.784238	KEEP	0	4	-1	109	103	0	4	-1	6.655901	109	103	0.019417	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF28_uc002qac.2_Missense_Mutation_p.R509H|ZNF28_uc010eqe.2_Missense_Mutation_p.R508H	89	GBM-06-2567-TP	p.R562H	C	GTGTGATTTGCGACTGAAAAC	NM_006969	NP_008900	53303413	P17035	ZNF28_HUMAN	0		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	4	1805	-	T	T			Missense_Mutation	562			C2H2-type 13.			
ZNF28	0	broad.mit.edu	GRCh37	19	53304049	53304049	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-19-1390-01	TCGA-19-1390-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000457749.2:c.1049C>A	p.Thr350Asn	p.T350N	ENST00000457749	NM_006969.3	350	aCt/aAt	0			1			T	T/N	uc002qad.2	protein_coding	YES	CCDS33093.2			1049/2157									skin(1)	1	c.(1048-1050)ACT>AAT			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF226,Superfamily_domains:SSF57667	zinc finger protein 28				ENSP00000397693		4-Apr									COSM3404534,COSM3404533,COSM3404532	4-Apr	.		ENST00000457749	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000198538	g.chr19:53304049G>T	13073			MODERATE		1.685	low	getma.org/?cm=msa&ty=f&p=ZNF28_HUMAN&rb=321&re=386&var=T350N	getma.org/pdb.php?prot=ZNF28_HUMAN&from=341&to=366&var=T350N	getma.org/?cm=var&var=hg19,19,53304049,G,T&fts=all	T350N	--	--	1																																		ZNF28_uc002qac.2_Missense_Mutation_p.T297N|ZNF28_uc010eqe.2_Missense_Mutation_p.T296N	1,1,1	1		probably_damaging(0.991)	p.T350N	NM_006969	NP_008900		deleterious(0.01)	1,1,1	ZNF28_HUMAN	ZNF28	HGNC	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	C9K0H3_HUMAN		4	1169	-			UPI00001D8190	350					SNV	ZNF28,missense_variant,p.Thr297Asn,ENST00000438150,;ZNF28,missense_variant,p.Thr350Asn,ENST00000457749,NM_006969.3;ZNF28,missense_variant,p.Thr297Asn,ENST00000360272,;ZNF28,missense_variant,p.Thr297Asn,ENST00000414252,;ZNF28,missense_variant,p.Thr297Asn,ENST00000391783,;ZNF28,downstream_gene_variant,,ENST00000594602,;ZNF28,downstream_gene_variant,,ENST00000339844,;ZNF28,downstream_gene_variant,,ENST00000596559,;	uc002qad.2	c.1049C>A	1169/4556	1	1			c.1049C>A						19	SNP	c.(1048-1050)ACT>AAT	2	2			skin(1)	1	Broad	zinc finger protein 28			53304049		0.373	ENSG00000198538	17555	g.chr19:53304049G>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							199.776692	KEEP	31	32	0.492063492	36	24	31	32	0.492063492	199.843819	36	24	0.525862	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF28_uc002qac.2_Missense_Mutation_p.T297N|ZNF28_uc010eqe.2_Missense_Mutation_p.T296N	159	GBM-19-1390-TP	p.T350N	G	TTTCTCTCCAGTGTGAATTAT	NM_006969	NP_008900	53304049	P17035	ZNF28_HUMAN	0		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	4	1169	-	T	T			Missense_Mutation	350						
ZNF280B	0	broad.mit.edu	GRCh37	22	22842526	22842526	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01	TCGA-28-5209-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360412.2:c.1198G>A	p.Glu400Lys	p.E400K	ENST00000360412	NM_080764.2	400	Gaa/Aaa	0			1			T	E/K	uc002zwc.1	protein_coding	YES	CCDS13799.1			1198/1632									ovary(2)	2	c.(1198-1200)GAA>AAA			Superfamily_domains:SSF57667,hmmpanther:PTHR23228:SF108,hmmpanther:PTHR23228	zinc finger protein 280B				ENSP00000353586		4-Apr	8.24E-06		8.64E-05						rs775765845,COSM1032518	4-Apr	.		ENST00000360412	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000198477	g.chr22:22842526C>T	23022			MODERATE		2.185	medium	getma.org/?cm=msa&ty=f&p=Z280B_HUMAN&rb=367&re=433&var=E400K	NA	getma.org/?cm=var&var=hg19,22,22842526,C,T&fts=all	E400K	--	--	1																																		LOC96610_uc011aim.1_Intron	0,1	1		probably_damaging(0.954)	p.E400K	NM_080764	NP_542942		deleterious(0.02)	0,1	Z280B_HUMAN	ZNF280B	HGNC	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)			4	1974	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	UPI000013FF86	400					SNV	ZNF280B,missense_variant,p.Glu400Lys,ENST00000360412,NM_080764.2;ZNF280B,missense_variant,p.Glu400Lys,ENST00000406426,;	uc002zwc.1	c.1198G>A	1974/5726	2	2			c.1198G>A						22	SNP	c.(1198-1200)GAA>AAA	25	25			ovary(2)	2	Broad	zinc finger protein 280B			22842526		0.433	ENSG00000198477	17557	g.chr22:22842526C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-62.004364	KEEP	18	6	-1	134	157	18	6	-1	10.270491	134	157	0.021277	1	0	0	0	0	1	0	0	0	--	--		0	T			LOC96610_uc011aim.1_Intron	218	GBM-28-5209-TP	p.E400K	C	TAGGGCATTTCGCCAGGCTTA	NM_080764	NP_542942	22842526	Q86YH2	Z280B_HUMAN	0		READ - Rectum adenocarcinoma(21;0.145)	4	1974	-	T	T	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	Missense_Mutation	400						
ZNF280B	0	broad.mit.edu	GRCh37	22	22842526	22842526	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000360412.2:c.1198G>A	p.Glu400Lys	p.E400K	ENST00000360412	NM_080764.2	400	Gaa/Aaa	0			1			T	E/K	uc002zwc.1	protein_coding	YES	CCDS13799.1			1198/1632									ovary(2)	2	c.(1198-1200)GAA>AAA			Superfamily_domains:SSF57667,hmmpanther:PTHR23228:SF108,hmmpanther:PTHR23228	zinc finger protein 280B				ENSP00000353586		4-Apr	8.24E-06		8.64E-05						rs775765845,COSM1032518	4-Apr	.		ENST00000360412	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000198477	g.chr22:22842526C>T	23022			MODERATE		2.185	medium	getma.org/?cm=msa&ty=f&p=Z280B_HUMAN&rb=367&re=433&var=E400K	NA	getma.org/?cm=var&var=hg19,22,22842526,C,T&fts=all	E400K	--	--	1																																		LOC96610_uc011aim.1_Intron	0,1	1		probably_damaging(0.954)	p.E400K	NM_080764	NP_542942		deleterious(0.02)	0,1	Z280B_HUMAN	ZNF280B	HGNC	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)			4	1974	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	UPI000013FF86	400					SNV	ZNF280B,missense_variant,p.Glu400Lys,ENST00000360412,NM_080764.2;ZNF280B,missense_variant,p.Glu400Lys,ENST00000406426,;	uc002zwc.1	c.1198G>A	1974/5726	2	2			c.1198G>A						22	SNP	c.(1198-1200)GAA>AAA	25	25			ovary(2)	2	Broad	zinc finger protein 280B			22842526		0.433	ENSG00000198477	17557	g.chr22:22842526C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							343.320581	KEEP	60	60	-1	81	91	60	60	-1	345.068101	81	91	0.414545	1	0	0	0	0	1	0	0	0	--	--		0	T			LOC96610_uc011aim.1_Intron	271	GBM-76-4932-TP	p.E400K	C	TAGGGCATTTCGCCAGGCTTA	NM_080764	NP_542942	22842526	Q86YH2	Z280B_HUMAN	0		READ - Rectum adenocarcinoma(21;0.145)	4	1974	-	T	T	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	Missense_Mutation	400						
ZNF280B	140883		GRCh37	22	22843649	22843649	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000360412.2:c.75C>T	p.Asp25=	p.D25=	ENST00000360412	NM_080764.2	25	gaC/gaT	0																																																																																																																																																																																																																																												
ZNF280C	55609	broad.mit.edu	GRCh37	X	129370452	129370452	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-02-0033-01	TCGA-02-0033-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370978.4:c.655C>T	p.Leu219=	p.L219=	ENST00000370978	NM_017666.4	219	Ctg/Ttg	0			1			A	L	uc004evm.2	protein_coding	YES	CCDS14622.1			655/2214									skin(2)|ovary(1)	3	c.(655-657)CTG>TTG			Pfam_domain:PF13836,hmmpanther:PTHR23228:SF120,hmmpanther:PTHR23228	zinc finger protein 280C				ENSP00000360017		19-Jul									COSM3405967	19-Jul	.		ENST00000370978	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000056277	g.chrX:129370452G>A	25955			LOW								--	--	1																																		ZNF280C_uc010nrf.1_Silent_p.L219L	1	1			p.L219L	NM_017666	NP_060136			1	Z280C_HUMAN	ZNF280C	HGNC	Q8ND82	Z280C_HUMAN					7	809	-			UPI0000071981	219			Ser-rich.		SNV	ZNF280C,synonymous_variant,p.=,ENST00000370978,NM_017666.4;ZNF280C,synonymous_variant,p.=,ENST00000447817,;	uc004evm.2	c.655C>T	809/4634	1	1			c.655C>T						23	SNP	c.(655-657)CTG>TTG	49	49			skin(2)|ovary(1)	3	Broad	zinc finger protein 280C			129370452		0.323	ENSG00000056277	17558	g.chrX:129370452G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-22.687146	KEEP	3	0	-1	84	47	3	0	-1	6.475221	84	47	0.025641	1	0	0	0	0	0	0	1	0	--	--		0	A			ZNF280C_uc010nrf.1_Silent_p.L219L	2	GBM-02-0033-TP	p.L219L	G	CCTTTTGACAGCATAACTTGG	NM_017666	NP_060136	129370452	Q8ND82	Z280C_HUMAN	0			7	809	-	A	A			Silent	219			Ser-rich.			
ZNF280C	55609	broad.mit.edu	GRCh37	X	129370597	129370598	+	frameshift_variant	Frame_Shift_Del	DEL	TG	TG	-			TCGA-06-2563-01	TCGA-06-2563-01	TG	TG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370978.4:c.509_510del	p.Ser170LeufsTer10	p.S170Lfs*10	ENST00000370978	NM_017666.4	170	tCA/t	0			1			-	S/X	uc004evm.2	protein_coding	YES	CCDS14622.1			509-510/2214									skin(2)|ovary(1)	3	c.(508-510)TCAfs			Pfam_domain:PF13836,hmmpanther:PTHR23228:SF120,hmmpanther:PTHR23228	zinc finger protein 280C				ENSP00000360017		19-Jul									COSM2152879	19-Jul	.		ENST00000370978	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000056277	g.chrX:129370597_129370598delTG	25955			HIGH								--	--	1																																		ZNF280C_uc010nrf.1_Frame_Shift_Del_p.S170fs	1	1			p.S170fs	NM_017666	NP_060136			1	Z280C_HUMAN	ZNF280C	HGNC	Q8ND82	Z280C_HUMAN					7	663_664	-			UPI0000071981	170			Ser-rich.		deletion	ZNF280C,frameshift_variant,p.Ser170LeufsTer10,ENST00000370978,NM_017666.4;ZNF280C,frameshift_variant,p.Ser170LeufsTer10,ENST00000447817,;	uc004evm.2	c.509_510delCA	663-664/4634	5	5			c.509_510delCA						23	DEL	c.(508-510)TCAfs	13	13			skin(2)|ovary(1)	3	Broad	zinc finger protein 280C			129370598		0.312	ENSG00000056277	17558	g.chrX:129370597_129370598delTG	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding																				0.48	1	1	0	1	0	0	0	0	0	--	--		0	-			ZNF280C_uc010nrf.1_Frame_Shift_Del_p.S170fs	86	GBM-06-2563-TP	p.S170fs	TG	TCAACACATATGAAGTATTTTT	NM_017666	NP_060136	129370597	Q8ND82	Z280C_HUMAN	0			7	663_664	-	-	-			Frame_Shift_Del	170			Ser-rich.			
ZNF280C	0	broad.mit.edu	GRCh37	X	129339341	129339341	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-4068-01	TCGA-19-4068-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370978.4:c.2091C>T	p.Ser697=	p.S697=	ENST00000370978	NM_017666.4	697	tcC/tcT	0	A:0		1			A	S	uc004evm.2	protein_coding	YES	CCDS14622.1			2091/2214									skin(2)|ovary(1)	3	c.(2089-2091)TCC>TCT			SMART_domains:SM00355,hmmpanther:PTHR23228:SF120,hmmpanther:PTHR23228	zinc finger protein 280C			A:0.0003	ENSP00000360017		17/19	4.12E-05					4.22E-05		0.0001	rs375528832,COSM3405965	17/19	.		ENST00000370978	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000056277	g.chrX:129339341G>A	25955			LOW								--	--	1																																			0,1	1			p.S697S	NM_017666	NP_060136			0,1	Z280C_HUMAN	ZNF280C	HGNC	Q8ND82	Z280C_HUMAN					17	2245	-			UPI0000071981	697					SNV	ZNF280C,synonymous_variant,p.=,ENST00000370978,NM_017666.4;	uc004evm.2	c.2091C>T	2245/4634	1	1			c.2091C>T						23	SNP	c.(2089-2091)TCC>TCT	61	61			skin(2)|ovary(1)	3	Broad	zinc finger protein 280C			129339341		0.323	ENSG00000056277	17558	g.chrX:129339341G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-21.777297	KEEP	3	1	-1	61	74	3	1	-1	6.509662	61	74	0.026316	1	0	0	0	0	0	0	1	0	--	--		0	A				168	GBM-19-4068-TP	p.S697S	G	GATCTAAGCCGGAAGAATCAG	NM_017666	NP_060136	129339341	Q8ND82	Z280C_HUMAN	0			17	2245	-	A	A			Silent	697						
ZNF280C	0	broad.mit.edu	GRCh37	X	129354388	129354388	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01	TCGA-76-4934-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370978.4:c.1462C>T	p.His488Tyr	p.H488Y	ENST00000370978	NM_017666.4	488	Cat/Tat	0			1			A	H/Y	uc004evm.2	protein_coding	YES	CCDS14622.1			1462/2214									skin(2)|ovary(1)	3	c.(1462-1464)CAT>TAT			SMART_domains:SM00355,PROSITE_patterns:PS00028,hmmpanther:PTHR23228:SF120,hmmpanther:PTHR23228	zinc finger protein 280C				ENSP00000360017		13/19									COSM3405966	13/19	.		ENST00000370978	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000056277	g.chrX:129354388G>A	25955			MODERATE		2.325	medium	getma.org/?cm=msa&ty=f&p=Z280C_HUMAN&rb=429&re=628&var=H488Y	NA	getma.org/?cm=var&var=hg19,X,129354388,G,A&fts=all	H488Y	--	--	1																																		ZNF280C_uc010nrf.1_Missense_Mutation_p.H439Y	1	1		probably_damaging(1)	p.H488Y	NM_017666	NP_060136		deleterious(0)	1	Z280C_HUMAN	ZNF280C	HGNC	Q8ND82	Z280C_HUMAN					13	1616	-			UPI0000071981	488			C2H2-type 5.		SNV	ZNF280C,missense_variant,p.His488Tyr,ENST00000370978,NM_017666.4;ZNF280C,missense_variant,p.His439Tyr,ENST00000447817,;	uc004evm.2	c.1462C>T	1616/4634	1	1			c.1462C>T						23	SNP	c.(1462-1464)CAT>TAT	52	52			skin(2)|ovary(1)	3	Broad	zinc finger protein 280C			129354388		0.383	ENSG00000056277	17558	g.chrX:129354388G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							425.387348	KEEP	80	79	-1	117	93	80	79	-1	426.540847	117	93	0.437126	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF280C_uc010nrf.1_Missense_Mutation_p.H439Y	272	GBM-76-4934-TP	p.H488Y	G	TGCGCCTTATGTTCAGCTTTC	NM_017666	NP_060136	129354388	Q8ND82	Z280C_HUMAN	0			13	1616	-	A	A			Missense_Mutation	488			C2H2-type 5.			
ZNF280D	54816	broad.mit.edu	GRCh37	15	56993158	56993158	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-02-0047-01	TCGA-02-0047-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000267807.7:c.354del	p.Val119LeufsTer12	p.V119Lfs*12	ENST00000267807	NM_017661.2	118	tcT/tc	0			1			-	S/X	uc002adu.2	protein_coding	YES	CCDS32245.1			354/2940									large_intestine(1)|ovary(1)|skin(1)	3	c.(352-354)TCTfs			Pfam_domain:PF13836,hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF114	suppressor of hairy wing homolog 4 isoform 1				ENSP00000267807		22-Jun										22-Jun	.		ENST00000267807	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000137871	g.chr15:56993158delA	25953			HIGH								--	--	1																																		ZNF280D_uc002adv.2_Frame_Shift_Del_p.S105fs|ZNF280D_uc010bfq.2_Frame_Shift_Del_p.S118fs|ZNF280D_uc002adw.1_Frame_Shift_Del_p.S146fs|ZNF280D_uc010bfr.1_RNA|ZNF280D_uc002ady.2_Frame_Shift_Del_p.S118fs|ZNF280D_uc002adx.2_Frame_Shift_Del_p.S118fs		1			p.S118fs	NM_017661	NP_060131				Z280D_HUMAN	ZNF280D	HGNC	Q6N043	Z280D_HUMAN		all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)	H0YN90_HUMAN		6	571	-			UPI00003FF962	118					deletion	ZNF280D,frameshift_variant,p.Val106LeufsTer12,ENST00000559237,NM_001002843.1;ZNF280D,frameshift_variant,p.Val106LeufsTer12,ENST00000559000,;ZNF280D,frameshift_variant,p.Val119LeufsTer12,ENST00000267807,NM_017661.2,NM_001288588.1;ZNF280D,frameshift_variant,p.Val119LeufsTer10,ENST00000558320,NM_001288589.1,NM_001002844.2;ZNF280D,5_prime_UTR_variant,,ENST00000396245,;ZNF280D,downstream_gene_variant,,ENST00000559352,;ZNF280D,frameshift_variant,p.Val119LeufsTer12,ENST00000560002,;ZNF280D,frameshift_variant,p.Val119LeufsTer12,ENST00000558002,;	uc002adu.2	c.354delT	571/4328	5	5			c.354delT						15	DEL	c.(352-354)TCTfs	8	8			large_intestine(1)|ovary(1)|skin(1)	3	Broad	suppressor of hairy wing homolog 4 isoform 1			56993158		0.393	ENSG00000137871	17559	g.chr15:56993158delA	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding																				0.17	1	1	0	1	0	0	0	0	0	--	--		0	-			ZNF280D_uc002adv.2_Frame_Shift_Del_p.S105fs|ZNF280D_uc010bfq.2_Frame_Shift_Del_p.S118fs|ZNF280D_uc002adw.1_Frame_Shift_Del_p.S146fs|ZNF280D_uc010bfr.1_RNA|ZNF280D_uc002ady.2_Frame_Shift_Del_p.S118fs|ZNF280D_uc002adx.2_Frame_Shift_Del_p.S118fs	3	GBM-02-0047-TP	p.S118fs	A	GAACAATAACAGAACTATCTG	NM_017661	NP_060131	56993158	Q6N043	Z280D_HUMAN	0		all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)	6	571	-	-	-			Frame_Shift_Del	118						
ZNF282	0	broad.mit.edu	GRCh37	7	148921339	148921339	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01	TCGA-32-2491-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262085.3:c.1616G>A	p.Ser539Asn	p.S539N	ENST00000262085	NM_003575.2	539	aGc/aAc	0	A:0.0002		1			A	S/N	uc003wfm.2	protein_coding	YES	CCDS5895.1			1616/2016										0	c.(1615-1617)AGC>AAC			Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24375:SF21,hmmpanther:PTHR24375,PROSITE_profiles:PS50157	zinc finger protein 282			A:0	ENSP00000262085		8-Aug	8.24E-06	0.000104							rs377317185,COSM3411774	8-Aug	.		ENST00000262085	Transcript			negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000170265	g.chr7:148921339G>A	13076			MODERATE		0.8	neutral	getma.org/?cm=msa&ty=f&p=ZN282_HUMAN&rb=512&re=577&var=S539N	getma.org/pdb.php?prot=ZN282_HUMAN&from=532&to=557&var=S539N	getma.org/?cm=var&var=hg19,7,148921339,G,A&fts=all	S539N	--	--	1																																		ZNF282_uc011kun.1_Splice_Site_p.P454_splice|ZNF282_uc003wfo.2_Missense_Mutation_p.A216T	0,1	1		possibly_damaging(0.454)	p.S539N	NM_003575	NP_003566		tolerated(0.28)	0,1	ZN282_HUMAN	ZNF282	HGNC	Q9UDV7	ZN282_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)	Q86YG2_HUMAN		8	1721	+	Melanoma(164;0.15)		UPI000013D255	539			C2H2-type 1.		SNV	ZNF282,splice_acceptor_variant,,ENST00000479907,;ZNF282,missense_variant,p.Ser539Asn,ENST00000262085,NM_003575.2;ZNF282,non_coding_transcript_exon_variant,,ENST00000470381,;	uc003wfm.2	c.1616G>A	1721/3721	2	2			c.1616G>A						7	SNP	c.(1615-1617)AGC>AAC	41	41				0	Broad	zinc finger protein 282			148921339		0.682	ENSG00000170265	17561	g.chr7:148921339G>A	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							2.801839	KEEP	2	2	-1	23	20	2	2	-1	7.344081	23	20	0.103448	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF282_uc011kun.1_Splice_Site_p.P454_splice|ZNF282_uc003wfo.2_Missense_Mutation_p.A216T	235	GBM-32-2491-TP	p.S539N	G	CACCACCGCAGCCACACCAAG	NM_003575	NP_003566	148921339	Q9UDV7	ZN282_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)	8	1721	+	A	A	Melanoma(164;0.15)		Missense_Mutation	539			C2H2-type 1.			
ZNF282	0	broad.mit.edu	GRCh37	7	148920939	148920940	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C			TCGA-32-2615-01	TCGA-32-2615-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262085.3:c.1220dupC	p.Pro408AlafsTer143	p.P408Afs*143	ENST00000262085	NM_003575.2	406	gcc/gCcc	0			1			C	A/AX	uc003wfm.2	protein_coding	YES	CCDS5895.1			1216-1217/2016										0	c.(1216-1218)GCCfs			Low_complexity_(Seg):seg,hmmpanther:PTHR24375:SF21,hmmpanther:PTHR24375	zinc finger protein 282				ENSP00000262085		8-Aug										8-Aug	.		ENST00000262085	Transcript			negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000170265	g.chr7:148920939_148920940insC	13076	4		HIGH								--	--	1																																		ZNF282_uc011kun.1_Frame_Shift_Ins_p.A406fs|ZNF282_uc003wfo.2_Intron		1			p.A406fs	NM_003575	NP_003566				ZN282_HUMAN	ZNF282	HGNC	Q9UDV7	ZN282_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)	Q86YG2_HUMAN		8	1321_1322	+	Melanoma(164;0.15)		UPI000013D255	406					insertion	ZNF282,frameshift_variant,p.Pro408AlafsTer143,ENST00000262085,NM_003575.2;ZNF282,frameshift_variant,p.Pro408AlafsTer74,ENST00000479907,;ZNF282,non_coding_transcript_exon_variant,,ENST00000470381,;	uc003wfm.2	c.1216_1217insC	1321-1322/3721	5	5			c.1216_1217insC						7	INS	c.(1216-1218)GCCfs	45	45				0	Broad	zinc finger protein 282			148920940		0.386	ENSG00000170265	17561	g.chr7:148920939_148920940insC	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding																				0.33	1	0	0	1	1	0	0	0	0	--	--		0	C			ZNF282_uc011kun.1_Frame_Shift_Ins_p.A406fs|ZNF282_uc003wfo.2_Intron	239	GBM-32-2615-TP	p.A406fs	-	cccacccccggccccgccacag	NM_003575	NP_003566	148920939	Q9UDV7	ZN282_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)	8	1321_1322	+	C	C	Melanoma(164;0.15)		Frame_Shift_Ins	406						
ZNF282	8427		GRCh37	7	148909483	148909483	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000262085.3:c.986G>A	p.Arg329Gln	p.R329Q	ENST00000262085	NM_003575.2	329	cGg/cAg	0																																																																																																																																																																																																																																												
ZNF283	0	broad.mit.edu	GRCh37	19	44351487	44351487	+	stop_gained	Nonsense_Mutation	SNP	T	T	A			TCGA-14-4157-01	TCGA-14-4157-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000324461.7:c.734T>A	p.Leu245Ter	p.L245*	ENST00000324461	NM_181845.1	245	tTa/tAa	0			1			A	L/*	uc002oxr.3	protein_coding	YES	CCDS46097.1			734/2040										0	c.(733-735)TTA>TAA			Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF63,PROSITE_profiles:PS50157	zinc finger protein 283				ENSP00000327314		7-Jul									COSM3404354	7-Jul	.		ENST00000324461	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000167637	g.chr19:44351487T>A	13077			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,19,44351487,T,A&fts=all	L245*	--	--	1																																		ZNF283_uc002oxp.3_Nonsense_Mutation_p.L106*	1	1			p.L245*	NM_181845	NP_862828			1	ZN283_HUMAN	ZNF283	HGNC	Q8N7M2	ZN283_HUMAN			K7ESH0_HUMAN,K7EL69_HUMAN		7	1002	+		Prostate(69;0.0352)	UPI000155B91C	245			C2H2-type 2.		SNV	ZNF283,stop_gained,p.Leu245Ter,ENST00000324461,NM_181845.1;ZNF283,stop_gained,p.Leu106Ter,ENST00000588797,;	uc002oxr.3	c.734T>A	1031/2851	5	1			c.734T>A						19	SNP	c.(733-735)TTA>TAA	59	59				0	Broad	zinc finger protein 283			44351487		0.408	ENSG00000167637	17562	g.chr19:44351487T>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							162.61553	KEEP	31	25	-1	22	19	31	25	-1	163.78178	22	19	0.626506	1	0	0	0	0	0	1	0	0	--	--		0	A			ZNF283_uc002oxp.3_Nonsense_Mutation_p.L106*	152	GBM-14-4157-TP	p.L245*	T	AAGAATTATTTAAGTGCCTAT	NM_181845	NP_862828	44351487	Q8N7M2	ZN283_HUMAN	0			7	1002	+	A	A		Prostate(69;0.0352)	Nonsense_Mutation	245			C2H2-type 2.			
ZNF284	0	broad.mit.edu	GRCh37	19	44589943	44589943	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-32-1977-01	TCGA-32-1977-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000421176.3:c.312G>A	p.Trp104Ter	p.W104*	ENST00000421176	NM_001037813.2	104	tgG/tgA	0			1			A	W/*	uc002oyg.1	protein_coding	YES	CCDS46099.1			312/1782										0	c.(310-312)TGG>TGA			hmmpanther:PTHR24388,hmmpanther:PTHR24388:SF2	zinc finger protein 284				ENSP00000411032		5-May									COSM3404356	5-May	.		ENST00000421176	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000186026	g.chr19:44589943G>A	13078			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,19,44589943,G,A&fts=all	W104*	--	--	1																																		ZNF284_uc010ejd.2_RNA	1	1			p.W104*	NM_001037813	NP_001032902			1	ZN284_HUMAN	ZNF284	HGNC	Q2VY69	ZN284_HUMAN					5	528	+		Prostate(69;0.0435)	UPI00005788EA	104					SNV	ZNF284,stop_gained,p.Trp104Ter,ENST00000421176,NM_001037813.2;RNU6-902P,upstream_gene_variant,,ENST00000517212,;ZNF223,3_prime_UTR_variant,,ENST00000591793,;	uc002oyg.1	c.312G>A	528/4351	5	2			c.312G>A						19	SNP	c.(310-312)TGG>TGA	22	22				0	Broad	zinc finger protein 284			44589943		0.468	ENSG00000186026	17563	g.chr19:44589943G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-24.294224	KEEP	0	3	-1	56	69	0	3	-1	7.187801	56	69	0.024	1	0	0	0	0	0	1	0	0	--	--		0	A			ZNF284_uc010ejd.2_RNA	229	GBM-32-1977-TP	p.W104*	G	AGCAAATCTGGGAACAAACTG	NM_001037813	NP_001032902	44589943	Q2VY69	ZN284_HUMAN	0			5	528	+	A	A		Prostate(69;0.0435)	Nonsense_Mutation	104						
ZNF285	0	broad.mit.edu	GRCh37	19	44891167	44891167	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01	TCGA-26-5135-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330997.4:c.1240G>A	p.Val414Ile	p.V414I	ENST00000330997	NM_152354.3	414	Gtt/Att	0			1			T	V/I	uc002ozd.3	protein_coding	YES	CCDS12638.1			1240/1773									ovary(2)|skin(2)	4	c.(1240-1242)GTT>ATT			Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF173,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 285				ENSP00000333595		4-Apr	3.29E-05			0.000116		1.50E-05		0.000121	rs766367743,COSM2157098	4-Apr	.		ENST00000330997	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000267508	g.chr19:44891167C>T	13079			MODERATE		0.325	neutral	getma.org/?cm=msa&ty=f&p=ZN285_HUMAN&rb=394&re=459&var=V414I	getma.org/pdb.php?prot=ZN285_HUMAN&from=414&to=439&var=V414I	getma.org/?cm=var&var=hg19,19,44891167,C,T&fts=all	V414I	--	--	1																																		ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Missense_Mutation_p.V421I	0,1	1		benign(0.061)	p.V414I	NM_152354	NP_689567		tolerated(0.41)	0,1	ZN285_HUMAN	ZNF285	HGNC	Q96NJ3	ZN285_HUMAN			K7ERT5_HUMAN		4	1327	-			UPI0000456CDE	414			C2H2-type 6.		SNV	ZNF285,missense_variant,p.Val414Ile,ENST00000330997,NM_152354.3;ZNF285,missense_variant,p.Val414Ile,ENST00000544719,;ZNF285,missense_variant,p.Val421Ile,ENST00000591679,;CTC-512J12.6,intron_variant,,ENST00000588212,;ZNF285,downstream_gene_variant,,ENST00000585868,;ZNF285,downstream_gene_variant,,ENST00000589738,;	uc002ozd.3	c.1240G>A	1305/6013	1	1			c.1240G>A						19	SNP	c.(1240-1242)GTT>ATT	5	5			ovary(2)|skin(2)	4	Broad	zinc finger protein 285			44891167		0.488	ENSG00000267508	17564	g.chr19:44891167C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							171.866963	KEEP	32	32	-1	46	49	32	32	-1	172.675715	46	49	0.41958	1	0	0	0	0	1	0	0	0	--	--		0	T			ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Missense_Mutation_p.V421I	184	GBM-26-5135-TP	p.V414I	C	ACTTGAAGAACGGAGCTTGAA	NM_152354	NP_689567	44891167	Q96NJ3	ZN285_HUMAN	0			4	1327	-	T	T			Missense_Mutation	414			C2H2-type 6.			
ZNF292	23036	broad.mit.edu	GRCh37	6	87967291	87967291	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369577.3:c.3944G>C	p.Gly1315Ala	p.G1315A	ENST00000369577	NM_015021.1	1315	gGt/gCt	0			1			C	G/A	uc003plm.3	protein_coding	YES	CCDS47457.1			3944/8172									ovary(4)	4	c.(3943-3945)GGT>GCT			hmmpanther:PTHR15507,hmmpanther:PTHR15507:SF14	zinc finger protein 292				ENSP00000358590		8-Aug										8-Aug	.		ENST00000369577	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000188994	g.chr6:87967291G>C	18410			MODERATE		-0.69	neutral	getma.org/?cm=msa&ty=f&p=ZN292_HUMAN&rb=953&re=1342&var=G1315A	NA	getma.org/?cm=var&var=hg19,6,87967291,G,C&fts=all	G1315A	--	--	1																																				1		benign(0.001)	p.G1315A	NM_015021	NP_055836		tolerated(0.83)		ZN292_HUMAN	ZNF292	HGNC	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	Q6ZS01_HUMAN,Q6P495_HUMAN,Q3MN16_HUMAN		8	3985	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	UPI000020D2CC	1315					SNV	ZNF292,missense_variant,p.Gly1315Ala,ENST00000369577,NM_015021.1;ZNF292,missense_variant,p.Gly1310Ala,ENST00000339907,;ZNF292,intron_variant,,ENST00000496806,;ZNF292,downstream_gene_variant,,ENST00000466062,;	uc003plm.3	c.3944G>C	3987/10610	3	3			c.3944G>C						6	SNP	c.(3943-3945)GGT>GCT	16	16			ovary(4)	4	Broad	zinc finger protein 292			87967291		0.383	ENSG00000188994	17567	g.chr6:87967291G>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							24.48628	KEEP	5	3	-1	10	11	5	3	-1	25.798683	10	11	0.275862	1	0	0	0	0	1	0	0	0	--	--		0	C				18	GBM-06-0137-TP	p.G1315A	G	GGGGGTAATGGTGAAAATGCA	NM_015021	NP_055836	87967291	O60281	ZN292_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	3985	+	C	C		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	Missense_Mutation	1315						
ZNF292	23036	broad.mit.edu	GRCh37	6	87865454	87865454	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-1804-01	TCGA-06-1804-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000369577.3:c.145G>T	p.Asp49Tyr	p.D49Y	ENST00000369577	NM_015021.1	49	Gac/Tac	0			1			T	D/Y	uc003plm.3	protein_coding	YES	CCDS47457.1			145/8172									ovary(4)	4	c.(145-147)GAC>TAC			hmmpanther:PTHR15507,hmmpanther:PTHR15507:SF14	zinc finger protein 292				ENSP00000358590		8-Jan									COSM3411329	8-Jan	.		ENST00000369577	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000188994	g.chr6:87865454G>T	18410			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=ZN292_HUMAN&rb=1&re=499&var=D49Y	NA	getma.org/?cm=var&var=hg19,6,87865454,G,T&fts=all	D49Y	--	--	1																																		ZNF292_uc003plk.2_RNA|ZNF292_uc003pll.1_Missense_Mutation_p.D49Y	1	1		benign(0.127)	p.D49Y	NM_015021	NP_055836		deleterious(0)	1	ZN292_HUMAN	ZNF292	HGNC	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	Q6ZS01_HUMAN,Q6P495_HUMAN,Q3MN16_HUMAN		1	186	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	UPI000020D2CC	49					SNV	ZNF292,missense_variant,p.Asp49Tyr,ENST00000369577,NM_015021.1;ZNF292,missense_variant,p.Asp49Tyr,ENST00000339907,;ZNF292,missense_variant,p.Asp49Tyr,ENST00000392985,;ZNF292,missense_variant,p.Arg39Leu,ENST00000496806,;ZNF292,missense_variant,p.Asp49Tyr,ENST00000518845,;RP11-393I2.4,upstream_gene_variant,,ENST00000606274,;ZNF292,non_coding_transcript_exon_variant,,ENST00000369578,;	uc003plm.3	c.145G>T	188/10610	2	2			c.145G>T						6	SNP	c.(145-147)GAC>TAC	35	35			ovary(4)	4	Broad	zinc finger protein 292			87865454		0.726	ENSG00000188994	17567	g.chr6:87865454G>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							1.603246	KEEP	2	2	0.5	9	22	2	2	0.5	6.653515	9	22	0.096774	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF292_uc003plk.2_RNA|ZNF292_uc003pll.1_Missense_Mutation_p.D49Y	79	GBM-06-1804-TP	p.D49Y	G	AGCGGCCACCGACTACTGTCA	NM_015021	NP_055836	87865454	O60281	ZN292_HUMAN	0		BRCA - Breast invasive adenocarcinoma(108;0.0199)	1	186	+	T	T		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	Missense_Mutation	49						
ZNF296	162979	broad.mit.edu	GRCh37	19	45575604	45575605	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0192-01	TCGA-06-0192-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000303809.2:c.682dup	p.Arg228ProfsTer96	p.R228Pfs*96	ENST00000303809	NM_145288.1	228	cgg/cCgg	0			1			G	R/PX	uc002pao.2	protein_coding	YES	CCDS12653.1			682-683/1428										0	c.(682-684)CGGfs			hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF401	zinc finger protein 296				ENSP00000302770		3-Mar										3-Mar	.		ENST00000303809	Transcript			regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000170684	g.chr19:45575604_45575605insG	15981			HIGH								--	--	1																																				1			p.R228fs	NM_145288	NP_660331				ZN296_HUMAN	ZNF296	HGNC	Q8WUU4	ZN296_HUMAN			Q8NEY2_HUMAN,Q8IX33_HUMAN		3	739_740	-			UPI000013C363	228					insertion	ZNF296,frameshift_variant,p.Arg228ProfsTer96,ENST00000303809,NM_145288.1;CLASRP,downstream_gene_variant,,ENST00000544944,;CLASRP,downstream_gene_variant,,ENST00000221455,NM_007056.2;CLASRP,downstream_gene_variant,,ENST00000391953,NM_001278439.1;CLASRP,downstream_gene_variant,,ENST00000591904,;CTB-179K24.3,downstream_gene_variant,,ENST00000586744,;CLASRP,downstream_gene_variant,,ENST00000391952,;CLASRP,downstream_gene_variant,,ENST00000592876,;CLASRP,downstream_gene_variant,,ENST00000585615,;CLASRP,downstream_gene_variant,,ENST00000588070,;CLASRP,downstream_gene_variant,,ENST00000587472,;CLASRP,downstream_gene_variant,,ENST00000585432,;	uc002pao.2	c.682_683insC	897-898/1744	5	5			c.682_683insC						19	INS	c.(682-684)CGGfs	17	17				0	Broad	zinc finger protein 296			45575605		0.678	ENSG00000170684	17569	g.chr19:45575604_45575605insG	regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding																				0.04	1	0	0	1	1	0	0	0	0	--	--		0	G				44	GBM-06-0192-TP	p.R228fs	-	GGGGCTCCGCCGGGTGAGGCCG	NM_145288	NP_660331	45575604	Q8WUU4	ZN296_HUMAN	0			3	739_740	-	G	G			Frame_Shift_Ins	228						
ZNF3	0	broad.mit.edu	GRCh37	7	99669056	99669056	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1831-01	TCGA-27-1831-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299667.4:c.1051C>T	p.Gln351Ter	p.Q351*	ENST00000299667		351	Cag/Tag	0			1			A	Q/*	uc003usq.2	protein_coding		CCDS43619.1			1051/1341									ovary(1)	1	c.(1051-1053)CAG>TAG			PROSITE_profiles:PS50157,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 3 isoform 2				ENSP00000299667		6-Jun									COSM3412578	6-Jun	.		ENST00000299667	Transcript			cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000166526	g.chr7:99669056G>A	13089			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,99669056,G,A&fts=all	Q351*	--	--	1																																		ZNF3_uc003usp.2_Intron|ZNF3_uc003usr.2_Nonsense_Mutation_p.Q351*|ZNF3_uc010lgj.2_Nonsense_Mutation_p.Q315*|ZNF3_uc003uss.2_Nonsense_Mutation_p.Q358*|ZNF3_uc003ust.3_Nonsense_Mutation_p.Q351*	1				p.Q351*	NM_032924	NP_116313			1	ZNF3_HUMAN	ZNF3	HGNC	P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		Q86U76_HUMAN,C9JK31_HUMAN,C9JIW8_HUMAN,C9JE35_HUMAN,C9J5S8_HUMAN		6	1358	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	UPI000000D9B2	351	GEKPYECNECGKAFSQSSHLYQHQRIHTGEKPYECMECGGK FTYSSGLIQHQ -> EALPTFVTLIRLLPSVDPIVTNEAAF PAESLATIFALIWRLFCVHSLMFKKV (in Ref. 2; BAA91019).		C2H2-type 6.		SNV	ZNF3,stop_gained,p.Gln351Ter,ENST00000303915,;ZNF3,stop_gained,p.Gln351Ter,ENST00000424697,NM_032924.4,NM_001278292.1,NM_001278291.1,NM_001278290.1,NM_001278287.1;ZNF3,stop_gained,p.Gln351Ter,ENST00000299667,;ZNF3,intron_variant,,ENST00000413658,NM_017715.3;ZNF3,downstream_gene_variant,,ENST00000428683,NM_001278284.1;ZNF3,downstream_gene_variant,,ENST00000449785,;ZNF3,downstream_gene_variant,,ENST00000412947,;ZNF3,downstream_gene_variant,,ENST00000441298,;ZNF3,downstream_gene_variant,,ENST00000415068,;ZNF3,downstream_gene_variant,,ENST00000292393,;ZNF3,non_coding_transcript_exon_variant,,ENST00000487620,;ZNF3,downstream_gene_variant,,ENST00000485892,;ZNF3,downstream_gene_variant,,ENST00000460331,;ZNF3,downstream_gene_variant,,ENST00000466121,;	uc003usq.2	c.1051C>T	1354/2799	5	2			c.1051C>T						7	SNP	c.(1051-1053)CAG>TAG	47	47			ovary(1)	1	Broad	zinc finger protein 3 isoform 2			99669056		0.473	ENSG00000166526	17570	g.chr7:99669056G>A	cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							132.489677	KEEP	27	31	-1	91	102	27	31	-1	147.390844	91	102	0.231111	1	0	0	0	0	0	1	0	0	--	--		0	A			ZNF3_uc003usp.2_Intron|ZNF3_uc003usr.2_Nonsense_Mutation_p.Q351*|ZNF3_uc010lgj.2_Nonsense_Mutation_p.Q315*|ZNF3_uc003uss.2_Nonsense_Mutation_p.Q358*|ZNF3_uc003ust.3_Nonsense_Mutation_p.Q351*	190	GBM-27-1831-TP	p.Q351*	G	TGTGAGCTCTGGCTGAAGGCT	NM_032924	NP_116313	99669056	P17036	ZNF3_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.129)		6	1358	-	A	A	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	Nonsense_Mutation	351	GEKPYECNECGKAFSQSSHLYQHQRIHTGEKPYECMECGGK FTYSSGLIQHQ -> EALPTFVTLIRLLPSVDPIVTNEAAF PAESLATIFALIWRLFCVHSLMFKKV (in Ref. 2; BAA91019).		C2H2-type 6.			
ZNF302	55900		GRCh37	19	35175737	35175737	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000505242.1:c.795C>G	p.Ala265=	p.A265=	ENST00000505242		265	gcC/gcG	0																																																																																																																																																																																																																																												
ZNF302	55900		GRCh37	19	35175342	35175342	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-6699-01	TCGA-06-6699-01																				ENST00000505242.1:c.400C>G	p.Leu134Val	p.L134V	ENST00000505242		134	Ctt/Gtt	0																																																																																																																																																																																																																																												
ZNF318	24149	broad.mit.edu	GRCh37	6	43323502	43323502	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0185-01	TCGA-06-0185-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361428.2:c.1570del	p.Arg524GlyfsTer23	p.R524Gfs*23	ENST00000361428	NM_014345.2	524	Agg/gg	0			1			-	R/X	uc003oux.2	protein_coding	YES	CCDS4895.2			1570/6840									ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7	c.(1570-1572)AGGfs			hmmpanther:PTHR15577:SF2,hmmpanther:PTHR15577	zinc finger protein 318				ENSP00000354964		10-Apr									COSM1271265	10-Apr	.		ENST00000361428	Transcript			meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	ENSG00000171467	g.chr6:43323502delT	13578			HIGH								--	--	1																																		ZNF318_uc003ouw.2_RNA	1	1			p.R524fs	NM_014345	NP_055160			1	ZN318_HUMAN	ZNF318	HGNC	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)				4	1648	-			UPI000049E044	524					deletion	ZNF318,frameshift_variant,p.Arg524GlyfsTer23,ENST00000361428,NM_014345.2;ZNF318,frameshift_variant,p.Arg524GlyfsTer23,ENST00000318149,;ZNF318,frameshift_variant,p.Arg524GlyfsTer23,ENST00000605935,;	uc003oux.2	c.1570delA	1648/8006	5	5			c.1570delA						6	DEL	c.(1570-1572)AGGfs	5	5			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7	Broad	zinc finger protein 318			43323502		0.493	ENSG00000171467	17577	g.chr6:43323502delT	meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding																				0.01	1	1	0	1	0	0	0	0	0	--	--		0	-			ZNF318_uc003ouw.2_RNA	40	GBM-06-0185-TP	p.R524fs	T	CTACGTCGCCTTTTTTCCTGT	NM_014345	NP_055160	43323502	Q5VUA4	ZN318_HUMAN	0	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	1648	-	-	-			Frame_Shift_Del	524						
ZNF318	24149		GRCh37	6	43308071	43308072	+	frameshift_variant	Frame_Shift_Del	DEL	TC	TC	-			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000361428.2:c.3664_3665del	p.Glu1222SerfsTer5	p.E1222Sfs*5	ENST00000361428	NM_014345.2	1222	GAa/a	0																																																																																																																																																																																																																																												
ZNF320	0	broad.mit.edu	GRCh37	19	53384360	53384360	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01	TCGA-14-1395-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000391781.2:c.1019G>A	p.Arg340His	p.R340H	ENST00000391781		340	cGc/cAc	0			1			T	R/H	uc002qag.2	protein_coding		CCDS33095.1			1019/1530										0	c.(1018-1020)CGC>CAC			Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF197,PROSITE_profiles:PS50157	zinc finger protein 320				ENSP00000375660		3-Mar	2.47E-05					1.50E-05		0.000121	rs752009361,COSM3404535	3-Mar	.		ENST00000391781	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000182986	g.chr19:53384360C>T	13842			MODERATE		0.785	neutral	getma.org/?cm=msa&ty=f&p=ZN320_HUMAN&rb=296&re=360&var=R340H	getma.org/pdb.php?prot=ZN320_HUMAN&from=316&to=340&var=R340H	getma.org/?cm=var&var=hg19,19,53384360,C,T&fts=all	R340H	--	--	1																																		ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.R286H|ZNF320_uc002qai.2_Missense_Mutation_p.R340H	0,1			benign(0.02)	p.R340H	NM_207333	NP_997216		tolerated(0.5)	0,1	ZN320_HUMAN	ZNF320	HGNC	A2RRD8	ZN320_HUMAN		GBM - Glioblastoma multiforme(134;0.0534)	Q6ZP55_HUMAN,M0R2L4_HUMAN,M0R1K6_HUMAN,M0R0Z8_HUMAN,M0QZA2_HUMAN		4	1210	-			UPI00004EC06C	340			C2H2-type 7.		SNV	ZNF320,missense_variant,p.Arg340His,ENST00000595635,NM_207333.2;ZNF320,missense_variant,p.Arg340His,ENST00000391781,;ZNF320,intron_variant,,ENST00000597909,;ZNF320,downstream_gene_variant,,ENST00000597091,;ZNF320,downstream_gene_variant,,ENST00000593618,;ZNF320,downstream_gene_variant,,ENST00000594741,;ZNF320,downstream_gene_variant,,ENST00000597265,;ZNF320,intron_variant,,ENST00000600930,;ZNF320,upstream_gene_variant,,ENST00000598199,;	uc002qag.2	c.1019G>A	1103/6038	2	2			c.1019G>A						19	SNP	c.(1018-1020)CGC>CAC	41	41				0	Broad	zinc finger protein 320			53384360		0.428	ENSG00000182986	17580	g.chr19:53384360C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-20.557324	KEEP	2	2	-1	68	57	2	2	-1	7.048915	68	57	0.034188	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.R286H|ZNF320_uc002qai.2_Missense_Mutation_p.R340H	144	GBM-14-1395-TP	p.R340H	C	ATGTGATTTGCGACTGAAAAC	NM_207333	NP_997216	53384360	A2RRD8	ZN320_HUMAN	0		GBM - Glioblastoma multiforme(134;0.0534)	4	1210	-	T	T			Missense_Mutation	340			C2H2-type 7.			
ZNF322P1	387328	broad.mit.edu	GRCh37	9	99960660	99960660	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T			TCGA-06-0646-01	TCGA-06-0646-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375210.2:n.1251G>A		p.*417*	ENST00000375210				0			1			T		uc004axd.1	lincRNA	YES														0	c.(1132-1134)CCG>CCA	691			zinc finger protein 322B															COSM2151329		.		ENST00000416066	Transcript						ENSG00000242375	g.chr9:99960660C>T				MODIFIER								--	--	1																																		uc004axb.2_5'Flank|ZNF322B_uc004axc.1_5'Flank|uc010msl.1_Intron	1				p.P378P	NM_199005	NP_945356			1		RP11-498P14.3	Clone_based_vega_gene							1	1251	-		Acute lymphoblastic leukemia(62;0.158)							SNV	RP11-498P14.5,downstream_gene_variant,,ENST00000607322,;RP11-498P14.3,upstream_gene_variant,,ENST00000416066,;ZNF322P1,non_coding_transcript_exon_variant,,ENST00000375210,;ZNF322P1,non_coding_transcript_exon_variant,,ENST00000568013,;ANKRD18CP,intron_variant,,ENST00000354752,;	uc004axd.1	c.1134G>A	-/474	2	2			c.1134G>A						9	SNP	c.(1132-1134)CCG>CCA	26	26				0	Broad	zinc finger protein 322B			99960660		0.443	ENSG00000242375	17583	g.chr9:99960660C>T										453.855186	KEEP	83	98	-1	177	159	83	98	-1	460.767211	177	159	0.36342	1	0	0	0	0	0	0	1	0	--	--		0	T			uc004axb.2_5'Flank|ZNF322B_uc004axc.1_5'Flank|uc010msl.1_Intron	60	GBM-06-0646-TP	p.P378P	C	TACAGACAAACGGTTTTTCAC	NM_199005	NP_945356	99960660			0			1	1251	-	T	T		Acute lymphoblastic leukemia(62;0.158)	Silent							
ZNF322P1	387328	broad.mit.edu	GRCh37	9	99961445	99961445	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A			TCGA-06-2558-01	TCGA-06-2558-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375210.2:n.466C>T		p.*156*	ENST00000375210				0			1			A		uc004axd.1	lincRNA	YES														0	c.(349-351)CAT>TAT	1476			zinc finger protein 322B															COSM3413865		.		ENST00000416066	Transcript						ENSG00000242375	g.chr9:99961445G>A				MODIFIER								--	--	1																																		uc004axb.2_5'Flank|ZNF322B_uc004axc.1_5'Flank|uc010msl.1_Intron	1				p.H117Y	NM_199005	NP_945356			1		RP11-498P14.3	Clone_based_vega_gene							1	466	-		Acute lymphoblastic leukemia(62;0.158)							SNV	RP11-498P14.5,downstream_gene_variant,,ENST00000607322,;RP11-498P14.3,upstream_gene_variant,,ENST00000416066,;ZNF322P1,non_coding_transcript_exon_variant,,ENST00000375210,;ZNF322P1,non_coding_transcript_exon_variant,,ENST00000568013,;ANKRD18CP,intron_variant,,ENST00000354752,;	uc004axd.1	c.349C>T	-/474	2	2			c.349C>T						9	SNP	c.(349-351)CAT>TAT	24	24				0	Broad	zinc finger protein 322B			99961445		0.408	ENSG00000242375	17583	g.chr9:99961445G>A										-145.183525	KEEP	5	4	-1	331	354	5	4	-1	12.228127	331	354	0.015254	1	0	0	0	0	1	0	0	0	--	--		0	A			uc004axb.2_5'Flank|ZNF322B_uc004axc.1_5'Flank|uc010msl.1_Intron	82	GBM-06-2558-TP	p.H117Y	G	GTTCTCTGATGTCCTGAAAGC	NM_199005	NP_945356	99961445			0			1	466	-	A	A		Acute lymphoblastic leukemia(62;0.158)	Missense_Mutation							
ZNF324	0	broad.mit.edu	GRCh37	19	58983498	58983498	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0871-01	TCGA-14-0871-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000196482.3:c.1639G>A	p.Val547Ile	p.V547I	ENST00000196482	NM_014347.2	547	Gtc/Atc	0		A:0	1	A:0		A	V/I	uc002qsw.1	protein_coding		CCDS12981.1			1639/1662										0	c.(1639-1641)GTC>ATC				zinc finger protein 324		A:0.001		ENSP00000196482	A:0	4-Apr	6.62E-05		8.90E-05	0.000844					rs530266629,COSM3404732	4-Apr	common_variant		ENST00000196482	Transcript		A:0.0002	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000083812	g.chr19:58983498G>A	14096			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=Z324A_HUMAN&rb=520&re=551&var=V547I	NA	getma.org/?cm=var&var=hg19,19,58983498,G,A&fts=all	V547I	--	--	1																																		ZNF324_uc002qsx.1_Missense_Mutation_p.V324I	0,1			benign(0.002)	p.V547I	NM_014347	NP_055162	A:0	tolerated_low_confidence(0.25)	0,1	Z324A_HUMAN	ZNF324	HGNC	O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	F5H1K2_HUMAN		4	1733	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	UPI000013C359	547					SNV	ZNF324,missense_variant,p.Val547Ile,ENST00000536459,;ZNF324,missense_variant,p.Val547Ile,ENST00000196482,NM_014347.2;ZNF324,missense_variant,p.Val324Ile,ENST00000535298,;ZNF324,missense_variant,p.Val406Ile,ENST00000593925,;ZNF446,upstream_gene_variant,,ENST00000596341,;ZNF446,upstream_gene_variant,,ENST00000594369,NM_017908.2;ZNF446,upstream_gene_variant,,ENST00000335841,;ZNF446,upstream_gene_variant,,ENST00000600013,;CTD-2619J13.23,downstream_gene_variant,,ENST00000598051,;ZNF446,upstream_gene_variant,,ENST00000599913,;ZNF446,upstream_gene_variant,,ENST00000391694,;ZNF446,upstream_gene_variant,,ENST00000594468,;	uc002qsw.1	c.1639G>A	1733/3000	2	2			c.1639G>A						19	SNP	c.(1639-1641)GTC>ATC	33	33				0	Broad	zinc finger protein 324			58983498		0.652	ENSG00000083812	17585	g.chr19:58983498G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							31.718141	KEEP	16	10	-1	19	24	16	10	-1	32.088664	19	24	0.37931	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF324_uc002qsx.1_Missense_Mutation_p.V324I	141	GBM-14-0871-TP	p.V547I	G	CCCAGCCGCCGTCTCGCAGCC	NM_014347	NP_055162	58983498	O75467	Z324A_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	1733	+	A	A		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	Missense_Mutation	547						
ZNF324	0	broad.mit.edu	GRCh37	19	58982200	58982200	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01	TCGA-41-5651-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000196482.3:c.341G>A	p.Gly114Asp	p.G114D	ENST00000196482	NM_014347.2	114	gGt/gAt	0			1			A	G/D	uc002qsw.1	protein_coding		CCDS12981.1			341/1662										0	c.(340-342)GGT>GAT			hmmpanther:PTHR24382,hmmpanther:PTHR24382:SF32	zinc finger protein 324				ENSP00000196482		4-Apr									rs200934507,COSM1002748	4-Apr	.		ENST00000196482	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000083812	g.chr19:58982200G>A	14096			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=Z324A_HUMAN&rb=42&re=241&var=G114D	NA	getma.org/?cm=var&var=hg19,19,58982200,G,A&fts=all	G114D	--	--	1																																		ZNF324_uc002qsx.1_5'Flank	0,1			benign(0.007)	p.G114D	NM_014347	NP_055162		tolerated(0.28)	0,1	Z324A_HUMAN	ZNF324	HGNC	O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	F5H1K2_HUMAN		4	435	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	UPI000013C359	114					SNV	ZNF324,missense_variant,p.Gly114Asp,ENST00000536459,;ZNF324,missense_variant,p.Gly114Asp,ENST00000196482,NM_014347.2;ZNF446,upstream_gene_variant,,ENST00000596341,;ZNF324,upstream_gene_variant,,ENST00000593925,;ZNF324,upstream_gene_variant,,ENST00000535298,;CTD-2619J13.23,downstream_gene_variant,,ENST00000598051,;ZNF446,upstream_gene_variant,,ENST00000599913,;	uc002qsw.1	c.341G>A	435/3000	2	2			c.341G>A						19	SNP	c.(340-342)GGT>GAT	18	18				0	Broad	zinc finger protein 324			58982200		0.567	ENSG00000083812	17585	g.chr19:58982200G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-17.8143	KEEP	3	6	-1	62	53	3	6	-1	7.191112	62	53	0.037037	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF324_uc002qsx.1_5'Flank	258	GBM-41-5651-TP	p.G114D	G	CCTGTTGCCGGTGCCTGCCAC	NM_014347	NP_055162	58982200	O75467	Z324A_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	435	+	A	A		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	Missense_Mutation	114						
ZNF324B	0	broad.mit.edu	GRCh37	19	58967238	58967238	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-27-2527-01	TCGA-27-2527-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336614.4:c.927C>T	p.Gly309=	p.G309=	ENST00000336614	NM_207395.2	309	ggC/ggT	0			1			T	G	uc002qsv.1	protein_coding	YES	CCDS33138.1			927/1635									ovary(1)	1	c.(925-927)GGC>GGT			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24382,hmmpanther:PTHR24382:SF32,Superfamily_domains:SSF57667	zinc finger protein 324B				ENSP00000337473		4-Apr									COSM3404730,COSM3404731	4-Apr	.		ENST00000336614	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000249471	g.chr19:58967238C>T	33107			LOW								--	--	1																																		ZNF324B_uc002qsu.1_Silent_p.G299G|ZNF324B_uc010euq.1_Silent_p.G309G	1,1	1			p.G309G	NM_207395	NP_997278			1,1	Z324B_HUMAN	ZNF324B	HGNC	Q6AW86	Z324B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	M0R3B5_HUMAN,M0R1X9_HUMAN,M0R0B1_HUMAN		4	1034	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	UPI000022AA2D	309					SNV	ZNF324B,synonymous_variant,p.=,ENST00000391696,;ZNF324B,synonymous_variant,p.=,ENST00000336614,NM_207395.2;ZNF324B,synonymous_variant,p.=,ENST00000545523,;ZNF324B,downstream_gene_variant,,ENST00000598244,;ZNF324B,downstream_gene_variant,,ENST00000599193,;ZNF324B,downstream_gene_variant,,ENST00000594214,;ZNF324B,downstream_gene_variant,,ENST00000599194,;	uc002qsv.1	c.927C>T	1034/2996	2	2			c.927C>T						19	SNP	c.(925-927)GGC>GGT	32	32			ovary(1)	1	Broad	zinc finger protein 324B			58967238		0.687	ENSG00000249471	17586	g.chr19:58967238C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							22.560896	KEEP	7	4	-1	31	49	7	4	-1	25.923463	31	49	0.217391	1	0	0	0	0	0	0	1	0	--	--		0	T			ZNF324B_uc002qsu.1_Silent_p.G299G|ZNF324B_uc010euq.1_Silent_p.G309G	204	GBM-27-2527-TP	p.G309G	C	TCCACAGCGGCGAGACGCCCT	NM_207395	NP_997278	58967238	Q6AW86	Z324B_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	1034	+	T	T		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	Silent	309						
ZNF329	0	broad.mit.edu	GRCh37	19	58640193	58640193	+	synonymous_variant	Silent	SNP	G	G	A	rs116840582	byFrequency;by1000genomes	TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358067.4:c.678C>T	p.Thr226=	p.T226=	ENST00000358067		226	acC/acT	0	A:0.0066	A:0.0091	1	A:0		A	T	uc002qrn.2	protein_coding		CCDS12972.1			678/1626									skin(1)	1	c.(676-678)ACC>ACT			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF118,Superfamily_domains:SSF57667	zinc finger protein 329		A:0.002	A:0.0001	ENSP00000350773	A:0	3-Mar	0.00124	0.00695	0.000606	0.00705	0.000151	0.000121		7.06E-05	rs116840582,COSM3404720	3-Mar	common_variant		ENST00000358067	Transcript		A:0.0028	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000181894	g.chr19:58640193G>A	14209			LOW								--	--	1																																		ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	0,1				p.T226T	NM_024620	NP_078896	A:0		0,1	ZN329_HUMAN	ZNF329	HGNC	Q86UD4	ZN329_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)	M0R136_HUMAN		4	915	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)	UPI0000246E79	226					SNV	ZNF329,synonymous_variant,p.=,ENST00000598312,NM_024620.3;ZNF329,synonymous_variant,p.=,ENST00000358067,;ZNF329,downstream_gene_variant,,ENST00000601887,;ZNF329,synonymous_variant,p.=,ENST00000597186,;ZNF329,synonymous_variant,p.=,ENST00000500161,;	uc002qrn.2	c.678C>T	885/3381	2	2			c.678C>T						19	SNP	c.(676-678)ACC>ACT	45	45			skin(1)	1	Broad	zinc finger protein 329			58640193		0.433	ENSG00000181894	17588	g.chr19:58640193G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-33.229405	KEEP	16	14	-1	235	245	16	14	-1	59.350892	235	245	0.05765	1	0	0	0	0	0	0	1	0	--	--		0	A			ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	160	GBM-19-1790-TP	p.T226T	G	GCTTCTCTCCGGTGTGAGTTC	NM_024620	NP_078896	58640193	Q86UD4	ZN329_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)	4	915	-	A	A		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)	Silent	226						
ZNF330	0	broad.mit.edu	GRCh37	4	142155058	142155058	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262990.4:c.878C>T	p.Thr293Ile	p.T293I	ENST00000262990	NM_014487.4	293	aCt/aTt	0			1			T	T/I	uc003iiq.3	protein_coding	YES	CCDS3754.1			878/963										0	c.(877-879)ACT>ATT			hmmpanther:PTHR13214:SF1,hmmpanther:PTHR13214,Pfam_domain:PF06524	zinc finger protein 330				ENSP00000262990		10-Oct									COSM3409070	10-Oct	.		ENST00000262990	Transcript				chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding	ENSG00000109445	g.chr4:142155058C>T	15462			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=ZN330_HUMAN&rb=1&re=313&var=T293I	NA	getma.org/?cm=var&var=hg19,4,142155058,C,T&fts=all	T293I	--	--	1																																		ZNF330_uc011chl.1_Missense_Mutation_p.T233I	1	1		benign(0.001)	p.T293I	NM_014487	NP_055302		tolerated_low_confidence(0.22)	1	ZN330_HUMAN	ZNF330	HGNC	Q9Y3S2	ZN330_HUMAN			D6RBS7_HUMAN,D6RBR7_HUMAN,D6R9C8_HUMAN,D6R8Y9_HUMAN		10	1098	+	all_hematologic(180;0.162)		UPI000006E4AB	293					SNV	ZNF330,missense_variant,p.Thr293Ile,ENST00000262990,NM_014487.4;ZNF330,missense_variant,p.Thr233Ile,ENST00000421169,;ZNF330,downstream_gene_variant,,ENST00000512809,;ZNF330,downstream_gene_variant,,ENST00000503649,;ZNF330,downstream_gene_variant,,ENST00000512738,;ZNF330,3_prime_UTR_variant,,ENST00000506302,;ZNF330,downstream_gene_variant,,ENST00000507532,;	uc003iiq.3	c.878C>T	1106/1899	2	2			c.878C>T						4	SNP	c.(877-879)ACT>ATT	21	21				0	Broad	zinc finger protein 330			142155058		0.308	ENSG00000109445	17589	g.chr4:142155058C>T		chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding							179.593004	KEEP	35	26	-1	47	46	35	26	-1	181.086967	47	46	0.393333	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF330_uc011chl.1_Missense_Mutation_p.T233I	249	GBM-32-5222-TP	p.T293I	C	GATTCAGATACTGAGTCATCA	NM_014487	NP_055302	142155058	Q9Y3S2	ZN330_HUMAN	0			10	1098	+	T	T	all_hematologic(180;0.162)		Missense_Mutation	293						
ZNF333	84449	broad.mit.edu	GRCh37	19	14829286	14829286	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-2559-01	TCGA-06-2559-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000292530.6:c.1147A>G	p.Arg383Gly	p.R383G	ENST00000292530	NM_032433.2	383	Agg/Ggg	0			1			G	R/G	uc002mzn.2	protein_coding	YES	CCDS12316.1			1147/1998									ovary(1)|central_nervous_system(1)|pancreas(1)	3	c.(1147-1149)AGG>GGG			PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF183,hmmpanther:PTHR24402,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00614,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 333				ENSP00000292530		12-Dec									COSM3403834	12-Dec	.		ENST00000292530	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000160961	g.chr19:14829286A>G	15624			MODERATE		2.12	medium	getma.org/?cm=msa&ty=f&p=ZN333_HUMAN&rb=346&re=408&var=R383G	getma.org/pdb.php?prot=ZN333_HUMAN&from=366&to=388&var=R383G	getma.org/?cm=var&var=hg19,19,14829286,A,G&fts=all	R383G	--	--	1																																		ZNF333_uc002mzk.3_Missense_Mutation_p.R274G	1	1		possibly_damaging(0.454)	p.R383G	NM_032433	NP_115809		tolerated(0.09)	1	ZN333_HUMAN	ZNF333	HGNC	Q96JL9	ZN333_HUMAN			B3KT80_HUMAN,B3KSN8_HUMAN		12	1281	+			UPI000013C35C	383			C2H2-type 1.		SNV	ZNF333,missense_variant,p.Arg383Gly,ENST00000292530,NM_032433.2;ZNF333,missense_variant,p.Arg274Gly,ENST00000536363,;ZNF333,intron_variant,,ENST00000540689,;ZNF333,3_prime_UTR_variant,,ENST00000598161,;ZNF333,downstream_gene_variant,,ENST00000597301,;ZNF333,downstream_gene_variant,,ENST00000597007,;	uc002mzn.2	c.1147A>G	1238/4672	3	3			c.1147A>G						19	SNP	c.(1147-1149)AGG>GGG	50	50			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Broad	zinc finger protein 333			14829286		0.453	ENSG00000160961	17591	g.chr19:14829286A>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	NSCLC(60;75 1281 16985 25154 29885)			NSCLC(60;75 1281 16985 25154 29885)			-23.285988	KEEP	0	4	-1	65	66	0	4	-1	6.741709	65	66	0.025	1	0	0	0	0	1	0	0	0	--	--		0	G			ZNF333_uc002mzk.3_Missense_Mutation_p.R274G	83	GBM-06-2559-TP	p.R383G	A	TGACCTTATCAGGCATGAGAA	NM_032433	NP_115809	14829286	Q96JL9	ZN333_HUMAN	0			12	1281	+	G	G			Missense_Mutation	383			C2H2-type 1.			
ZNF335	63925	broad.mit.edu	GRCh37	20	44590737	44590737	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-01	TCGA-06-0190-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322927.2:c.1618C>T	p.Arg540Trp	p.R540W	ENST00000322927	NM_022095.3	540	Cgg/Tgg	0			1			A	R/W	uc002xqw.2	protein_coding	YES	CCDS13389.1			1618/4029									skin(3)|ovary(1)	4	c.(1618-1620)CGG>TGG			Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,hmmpanther:PTHR24403:SF31,hmmpanther:PTHR24403,PROSITE_profiles:PS50157	zinc finger protein 335				ENSP00000325326		28-Oct	8.24E-06							6.06E-05	rs780577772,COSM3294138	28-Oct	.		ENST00000322927	Transcript	1		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000198026	g.chr20:44590737G>A	15807			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=ZN335_HUMAN&rb=535&re=575&var=R540W	NA	getma.org/?cm=var&var=hg19,20,44590737,G,A&fts=all	R540W	--	--	1																																		ZNF335_uc010zxk.1_Missense_Mutation_p.R385W	0,1	1		probably_damaging(1)	p.R540W	NM_022095	NP_071378		deleterious(0)	0,1	ZN335_HUMAN	ZNF335	HGNC	Q9H4Z2	ZN335_HUMAN					10	1741	-		Myeloproliferative disorder(115;0.0122)	UPI0000001BC3	540			C2H2-type 4.		SNV	ZNF335,missense_variant,p.Arg540Trp,ENST00000322927,NM_022095.3;ZNF335,missense_variant,p.Arg385Trp,ENST00000426788,;ZNF335,non_coding_transcript_exon_variant,,ENST00000475002,;ZNF335,downstream_gene_variant,,ENST00000494955,;ZNF335,downstream_gene_variant,,ENST00000476822,;	uc002xqw.2	c.1618C>T	1719/4430	2	2			c.1618C>T						20	SNP	c.(1618-1620)CGG>TGG	34	34			skin(3)|ovary(1)	4	Broad	zinc finger protein 335			44590737		0.622	ENSG00000198026	17593	g.chr20:44590737G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							126.201838	KEEP	24	29	-1	53	70	24	29	-1	131.056287	53	70	0.308725	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF335_uc010zxk.1_Missense_Mutation_p.R385W	43	GBM-06-0190-TP	p.R540W	G	GCGGCGTGCCGAATGACGTCC	NM_022095	NP_071378	44590737	Q9H4Z2	ZN335_HUMAN	0			10	1741	-	A	A		Myeloproliferative disorder(115;0.0122)	Missense_Mutation	540			C2H2-type 4.			
ZNF335	0	broad.mit.edu	GRCh37	20	44587938	44587938	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01	TCGA-28-5208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322927.2:c.2155C>T	p.Arg719Cys	p.R719C	ENST00000322927	NM_022095.3	719	Cgc/Tgc	0			1			A	R/C	uc002xqw.2	protein_coding	YES	CCDS13389.1			2155/4029									skin(3)|ovary(1)	4	c.(2155-2157)CGC>TGC			Low_complexity_(Seg):seg,hmmpanther:PTHR24403:SF31,hmmpanther:PTHR24403	zinc finger protein 335				ENSP00000325326		15/28	1.65E-05					3.16E-05			rs763158895,COSM577589	15/28	.		ENST00000322927	Transcript	1		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000198026	g.chr20:44587938G>A	15807			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=ZN335_HUMAN&rb=661&re=777&var=R719C	NA	getma.org/?cm=var&var=hg19,20,44587938,G,A&fts=all	R719C	--	--	1																																		ZNF335_uc010zxk.1_Missense_Mutation_p.R564C	0,1	1		probably_damaging(0.999)	p.R719C	NM_022095	NP_071378		deleterious(0)	0,1	ZN335_HUMAN	ZNF335	HGNC	Q9H4Z2	ZN335_HUMAN					15	2278	-		Myeloproliferative disorder(115;0.0122)	UPI0000001BC3	719					SNV	ZNF335,missense_variant,p.Arg719Cys,ENST00000322927,NM_022095.3;ZNF335,missense_variant,p.Arg564Cys,ENST00000426788,;ZNF335,downstream_gene_variant,,ENST00000475002,;	uc002xqw.2	c.2155C>T	2256/4430	2	2			c.2155C>T						20	SNP	c.(2155-2157)CGC>TGC	48	48			skin(3)|ovary(1)	4	Broad	zinc finger protein 335			44587938		0.657	ENSG00000198026	17593	g.chr20:44587938G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							153.280914	KEEP	33	24	-1	43	57	33	24	-1	154.984975	43	57	0.382979	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF335_uc010zxk.1_Missense_Mutation_p.R564C	217	GBM-28-5208-TP	p.R719C	G	GGGCGACGGCGGGAGGGGGGC	NM_022095	NP_071378	44587938	Q9H4Z2	ZN335_HUMAN	0			15	2278	-	A	A		Myeloproliferative disorder(115;0.0122)	Missense_Mutation	719						
ZNF337	0	broad.mit.edu	GRCh37	20	25655873	25655873	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-28-2499-01	TCGA-28-2499-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252979.5:c.2051delC	p.Pro684LeufsTer49	p.P684Lfs*49	ENST00000252979	NM_015655.2	684	cCt/ct	0			1			-	P/X	uc002wva.2	protein_coding		CCDS13174.1			2051/2256										0	c.(2050-2052)CCTfs			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF22,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	zinc finger protein 337				ENSP00000252979		5-May										5-May	.		ENST00000252979	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000130684	g.chr20:25655873delG	15809			HIGH								--	--	1																																		uc002wuz.2_RNA|ZNF337_uc010ztg.1_Frame_Shift_Del_p.P652fs|ZNF337_uc002wvb.2_Frame_Shift_Del_p.P684fs|ZNF337_uc002wvc.2_Frame_Shift_Del_p.P684fs					p.P684fs	NM_015655	NP_056470				ZN337_HUMAN	ZNF337	HGNC	Q9Y3M9	ZN337_HUMAN			B3KPK8_HUMAN		4	2573	-			UPI000013C35E	684					deletion	ZNF337,frameshift_variant,p.Pro684LeufsTer49,ENST00000376436,;ZNF337,frameshift_variant,p.Pro684LeufsTer49,ENST00000252979,NM_015655.2;ZNF337,frameshift_variant,p.Pro652LeufsTer49,ENST00000538750,;ZNF337-AS1,non_coding_transcript_exon_variant,,ENST00000414393,;ZNF337-AS1,intron_variant,,ENST00000439498,;ZNF337-AS1,intron_variant,,ENST00000455791,;ZNF337-AS1,downstream_gene_variant,,ENST00000428254,;ZNF337-AS1,downstream_gene_variant,,ENST00000420803,;ZNF337-AS1,downstream_gene_variant,,ENST00000421829,;ZNF337,downstream_gene_variant,,ENST00000481610,;MED28P7,upstream_gene_variant,,ENST00000456611,;	uc002wva.2	c.2051delC	2183/3205	5	5			c.2051delC						20	DEL	c.(2050-2052)CCTfs	43	43				0	Broad	zinc finger protein 337			25655873		0.502	ENSG00000130684	17594	g.chr20:25655873delG	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding																				0.42	1	1	0	1	0	0	0	0	0	--	--		0	-			uc002wuz.2_RNA|ZNF337_uc010ztg.1_Frame_Shift_Del_p.P652fs|ZNF337_uc002wvb.2_Frame_Shift_Del_p.P684fs|ZNF337_uc002wvc.2_Frame_Shift_Del_p.P684fs	208	GBM-28-2499-TP	p.P684fs	G	GCAAACAAAAGGCTTCTCCTT	NM_015655	NP_056470	25655873	Q9Y3M9	ZN337_HUMAN	0			4	2573	-	-	-			Frame_Shift_Del	684						
ZNF337	0	broad.mit.edu	GRCh37	20	25666266	25666266	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2514-01	TCGA-28-2514-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252979.5:c.187C>T	p.Arg63Trp	p.R63W	ENST00000252979	NM_015655.2	63	Cgg/Tgg	0			1			A	R/W	uc002wva.2	protein_coding		CCDS13174.1			187/2256										0	c.(187-189)CGG>TGG			Superfamily_domains:0044637,PROSITE_profiles:PS50805,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF22,SMART_domains:SM00349	zinc finger protein 337				ENSP00000252979		5-Apr									COSM2887698	5-Apr	.		ENST00000252979	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000130684	g.chr20:25666266G>A	15809			MODERATE		0.985	low	getma.org/?cm=msa&ty=f&p=ZN337_HUMAN&rb=12&re=83&var=R63W	NA	getma.org/?cm=var&var=hg19,20,25666266,G,A&fts=all	R63W	--	--	1																																		ZNF337_uc010ztg.1_Intron|ZNF337_uc002wvb.2_Missense_Mutation_p.R63W|ZNF337_uc002wvc.2_Missense_Mutation_p.R63W	1			possibly_damaging(0.689)	p.R63W	NM_015655	NP_056470		deleterious(0)	1	ZN337_HUMAN	ZNF337	HGNC	Q9Y3M9	ZN337_HUMAN			B3KPK8_HUMAN		3	709	-			UPI000013C35E	63			KRAB.		SNV	ZNF337,missense_variant,p.Arg63Trp,ENST00000376436,;ZNF337,missense_variant,p.Arg63Trp,ENST00000252979,NM_015655.2;ZNF337,intron_variant,,ENST00000538750,;ZNF337,non_coding_transcript_exon_variant,,ENST00000481610,;	uc002wva.2	c.187C>T	319/3205	2	2			c.187C>T						20	SNP	c.(187-189)CGG>TGG	24	24				0	Broad	zinc finger protein 337			25666266		0.577	ENSG00000130684	17594	g.chr20:25666266G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							2.006694	KEEP	19	18	-1	171	229	19	18	-1	68.581879	171	229	0.089514	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF337_uc010ztg.1_Intron|ZNF337_uc002wvb.2_Missense_Mutation_p.R63W|ZNF337_uc002wvc.2_Missense_Mutation_p.R63W	214	GBM-28-2514-TP	p.R63W	G	TGCTCTAGCCGCCTGATGAGT	NM_015655	NP_056470	25666266	Q9Y3M9	ZN337_HUMAN	0			3	709	-	A	A			Missense_Mutation	63			KRAB.			
ZNF33B	7582	broad.mit.edu	GRCh37	10	43088980	43088980	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0184-01	TCGA-06-0184-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359467.3:c.1418A>G	p.Glu473Gly	p.E473G	ENST00000359467	NM_006955.1	473	gAg/gGg	0			1			C	E/G	uc001jaf.1	protein_coding	YES	CCDS7198.1			1418/2337										0	c.(1417-1419)GAG>GGG			Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF204,PROSITE_profiles:PS50157	zinc finger protein 33B				ENSP00000352444		5-May									COSM3397118	5-May	.		ENST00000359467	Transcript				nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000196693	g.chr10:43088980T>C	13097			MODERATE		1.375	low	getma.org/?cm=msa&ty=f&p=ZN33B_HUMAN&rb=435&re=498&var=E473G	getma.org/pdb.php?prot=ZN33B_HUMAN&from=455&to=478&var=E473G	getma.org/?cm=var&var=hg19,10,43088980,T,C&fts=all	E473G	--	--	1																																		ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.E361G|ZNF33B_uc001jad.2_Intron	1	1		benign(0.181)	p.E473G	NM_006955	NP_008886		deleterious(0.03)	1	ZN33B_HUMAN	ZNF33B	HGNC	Q06732	ZN33B_HUMAN					5	1533	-			UPI000007257B	473			C2H2-type 6.		SNV	ZNF33B,missense_variant,p.Glu473Gly,ENST00000359467,NM_006955.1;ZNF33B,intron_variant,,ENST00000486187,;ZNF33B,intron_variant,,ENST00000465206,;ZNF33B,intron_variant,,ENST00000462075,;	uc001jaf.1	c.1418A>G	1533/5958	4	4			c.1418A>G						10	SNP	c.(1417-1419)GAG>GGG	34	34				0	Broad	zinc finger protein 33B			43088980		0.383	ENSG00000196693	17596	g.chr10:43088980T>C		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	Melanoma(137;1247 1767 16772 25727 43810)			Melanoma(137;1247 1767 16772 25727 43810)			-23.386299	KEEP	3	6	-1	81	78	3	6	-1	12.822137	81	78	0.038217	1	0	0	0	0	1	0	0	0	--	--		0	C			ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.E361G|ZNF33B_uc001jad.2_Intron	39	GBM-06-0184-TP	p.E473G	T	TTTCCCACACTCAAGACATTC	NM_006955	NP_008886	43088980	Q06732	ZN33B_HUMAN	0			5	1533	-	C	C			Missense_Mutation	473			C2H2-type 6.			
ZNF343	79175	broad.mit.edu	GRCh37	20	2464182	2464182	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-06-0129-01	TCGA-06-0129-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278772.4:c.1425T>C	p.Ser475=	p.S475=	ENST00000278772	NM_024325.4	475	agT/agC	0		G:0.003	1	G:0		G	S	uc002wge.1	protein_coding	YES	CCDS13028.1			1425/1800									upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3	c.(1423-1425)AGT>AGC			Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF00096,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24381:SF97,hmmpanther:PTHR24381,PROSITE_profiles:PS50157	zinc finger protein 343		G:0		ENSP00000278772	G:0	6-Jun	0.000453	0.000577	0.00216	0.000231		0.00015	0.0011	0.000424	rs528685225,COSM477923	6-Jun	common_variant		ENST00000278772	Transcript		G:0.0010	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000088876	g.chr20:2464182A>G	16017			LOW								--	--	1																																		ZNF343_uc010gao.1_Silent_p.S475S|ZNF343_uc002wgd.1_Silent_p.S385S	0,1	1			p.S475S	NM_024325	NP_077301	G:0.001		0,1	ZN343_HUMAN	ZNF343	HGNC	Q6P1L6	ZN343_HUMAN					6	1913	-			UPI000013DB8F	475			C2H2-type 8.		SNV	ZNF343,synonymous_variant,p.=,ENST00000278772,NM_024325.4,NM_001282496.1,NM_001282495.1;ZNF343,downstream_gene_variant,,ENST00000445484,;ZNF343,non_coding_transcript_exon_variant,,ENST00000465019,;RP4-734P14.4,intron_variant,,ENST00000461548,;	uc002wge.1	c.1425T>C	1913/3632	3	3			c.1425T>C						20	SNP	c.(1423-1425)AGT>AGC	1	1			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3	Broad	zinc finger protein 343			2464182		0.527	ENSG00000088876	17599	g.chr20:2464182A>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-17.059959	KEEP	2	2	-1	47	53	2	2	-1	6.895466	47	53	0.030303	1	0	0	0	0	0	0	1	0	--	--		0	G			ZNF343_uc010gao.1_Silent_p.S475S|ZNF343_uc002wgd.1_Silent_p.S385S	15	GBM-06-0129-TP	p.S475S	A	GTGATTTCCGACTAAAGCCTC	NM_024325	NP_077301	2464182	Q6P1L6	ZN343_HUMAN	0			6	1913	-	G	G			Silent	475			C2H2-type 8.			
ZNF345	0	broad.mit.edu	GRCh37	19	37368940	37368940	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-19-4068-01	TCGA-19-4068-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000420450.1:c.1208G>C	p.Cys403Ser	p.C403S	ENST00000420450	NM_001242472.1	403	tGt/tCt	0			1			C	C/S	uc002oex.2	protein_coding		CCDS12497.1			1208/1467									ovary(1)	1	c.(1207-1209)TGT>TCT			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF283,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 345				ENSP00000431216		3-Mar									COSM3404155	3-Mar	.		ENST00000420450	Transcript			negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	ENSG00000251247	g.chr19:37368940G>C	16367			MODERATE		3.295	medium	getma.org/?cm=msa&ty=f&p=ZN345_HUMAN&rb=364&re=429&var=C403S	getma.org/pdb.php?prot=ZN345_HUMAN&from=384&to=409&var=C403S	getma.org/?cm=var&var=hg19,19,37368940,G,C&fts=all	C403S	--	--	1																																		ZNF345_uc002oey.3_Missense_Mutation_p.C403S|ZNF345_uc002oez.2_Intron	1			probably_damaging(1)	p.C403S	NM_003419	NP_003410		deleterious(0)	1	ZN345_HUMAN	ZNF345	HGNC	Q14585	ZN345_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		K7EM63_HUMAN,K7EKZ8_HUMAN,F8W8R5_HUMAN,E9PLT7_HUMAN,B7Z4L5_HUMAN		3	1586	+	Esophageal squamous(110;0.183)		UPI000013C364	403			C2H2-type 13.		SNV	ZNF345,missense_variant,p.Cys403Ser,ENST00000529555,;ZNF345,missense_variant,p.Cys403Ser,ENST00000589046,NM_003419.4,NM_001242476.1,NM_001242475.1;ZNF345,missense_variant,p.Cys403Ser,ENST00000420450,NM_001242472.1;ZNF345,intron_variant,,ENST00000586933,;ZNF345,intron_variant,,ENST00000526123,;ZNF345,downstream_gene_variant,,ENST00000585396,;ZNF345,downstream_gene_variant,,ENST00000532141,;ZNF345,downstream_gene_variant,,ENST00000586646,;ZNF345,downstream_gene_variant,,ENST00000331800,;ZNF345,intron_variant,,ENST00000432005,;ZNF345,intron_variant,,ENST00000529989,;ZNF345,intron_variant,,ENST00000525851,;ZNF345,intron_variant,,ENST00000534729,;	uc002oex.2	c.1208G>C	1408/1971	3	3			c.1208G>C						19	SNP	c.(1207-1209)TGT>TCT	6	6			ovary(1)	1	Broad	zinc finger protein 345			37368940		0.418	ENSG00000251247	17600	g.chr19:37368940G>C	negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding							-17.645813	KEEP	2	1	-1	64	55	2	1	-1	8.304808	64	55	0.028302	1	0	0	0	0	1	0	0	0	--	--		0	C			ZNF345_uc002oey.3_Missense_Mutation_p.C403S|ZNF345_uc002oez.2_Intron	168	GBM-19-4068-TP	p.C403S	G	TGTAAAGAATGTGGAAAGTCC	NM_003419	NP_003410	37368940	Q14585	ZN345_HUMAN	0	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		3	1586	+	C	C	Esophageal squamous(110;0.183)		Missense_Mutation	403			C2H2-type 13.			
ZNF345	25850		GRCh37	19	37367974	37367974	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000529555.1:c.242A>G	p.Gln81Arg	p.Q81R	ENST00000529555		81	cAg/cGg	0																																																																																																																																																																																																																																												
ZNF347	0	broad.mit.edu	GRCh37	19	53645153	53645153	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-19-1790-01	TCGA-19-1790-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334197.7:c.928A>T	p.Ile310Phe	p.I310F	ENST00000334197	NM_032584.2	310	Atc/Ttc	0			1			A	I/F	uc002qbb.1	protein_coding		CCDS33097.1			928/2520										0	c.(928-930)ATC>TTC			Superfamily_domains:SSF57667,Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF95,PROSITE_profiles:PS50157	zinc finger protein 347				ENSP00000334146		5-May									COSM2156065	5-May	.		ENST00000334197	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000197937	g.chr19:53645153T>A	16447			MODERATE		1.28	low	getma.org/?cm=msa&ty=f&p=ZN347_HUMAN&rb=283&re=348&var=I310F	getma.org/pdb.php?prot=ZN347_HUMAN&from=303&to=328&var=I310F	getma.org/?cm=var&var=hg19,19,53645153,T,A&fts=all	I310F	--	--	1																																		ZNF347_uc010eql.1_Missense_Mutation_p.I311F|ZNF347_uc002qbc.1_Missense_Mutation_p.I311F	1			probably_damaging(0.995)	p.I310F	NM_032584	NP_115973		tolerated(0.06)	1	ZN347_HUMAN	ZNF347	HGNC	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	M0R1E9_HUMAN,M0QZE2_HUMAN,M0QXR8_HUMAN		5	997	-			UPI000049DED1	310			C2H2-type 2.		SNV	ZNF347,missense_variant,p.Ile311Phe,ENST00000452676,NM_001172674.1;ZNF347,missense_variant,p.Ile310Phe,ENST00000334197,NM_032584.2;ZNF347,missense_variant,p.Ile311Phe,ENST00000601469,NM_001172675.1;ZNF347,intron_variant,,ENST00000601804,;ZNF347,downstream_gene_variant,,ENST00000595967,;ZNF347,downstream_gene_variant,,ENST00000597183,;	uc002qbb.1	c.928A>T	997/4193	2	2			c.928A>T						19	SNP	c.(928-930)ATC>TTC	34	34				0	Broad	zinc finger protein 347			53645153		0.388	ENSG00000197937	17602	g.chr19:53645153T>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	Melanoma(64;205 1597 17324 45721)			Melanoma(64;205 1597 17324 45721)			165.325303	KEEP	36	38	-1	111	136	36	38	-1	185.039267	111	136	0.226481	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF347_uc010eql.1_Missense_Mutation_p.I311F|ZNF347_uc002qbc.1_Missense_Mutation_p.I311F	160	GBM-19-1790-TP	p.I310F	T	CCAGTATGGATCACCTGATGG	NM_032584	NP_115973	53645153	Q96SE7	ZN347_HUMAN	0		GBM - Glioblastoma multiforme(134;0.0179)	5	997	-	A	A			Missense_Mutation	310			C2H2-type 2.			
ZNF347	0	broad.mit.edu	GRCh37	19	53645135	53645135	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01	TCGA-26-6174-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334197.7:c.946C>T	p.Arg316Cys	p.R316C	ENST00000334197	NM_032584.2	316	Cgt/Tgt	0			1			A	R/C	uc002qbb.1	protein_coding		CCDS33097.1			946/2520										0	c.(946-948)CGT>TGT			Superfamily_domains:SSF57667,Pfam_domain:PF13465,Gene3D:3.30.160.60,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF95,PROSITE_profiles:PS50157	zinc finger protein 347				ENSP00000334146		5-May	8.24E-06							6.07E-05	rs775039767,COSM3404536	5-May	.		ENST00000334197	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000197937	g.chr19:53645135G>A	16447			MODERATE		1.225	low	getma.org/?cm=msa&ty=f&p=ZN347_HUMAN&rb=283&re=348&var=R316C	getma.org/pdb.php?prot=ZN347_HUMAN&from=303&to=328&var=R316C	getma.org/?cm=var&var=hg19,19,53645135,G,A&fts=all	R316C	--	--	1																																		ZNF347_uc010eql.1_Missense_Mutation_p.R317C|ZNF347_uc002qbc.1_Missense_Mutation_p.R317C	0,1			possibly_damaging(0.898)	p.R316C	NM_032584	NP_115973		deleterious(0)	0,1	ZN347_HUMAN	ZNF347	HGNC	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	M0R1E9_HUMAN,M0QZE2_HUMAN,M0QXR8_HUMAN		5	1015	-			UPI000049DED1	316					SNV	ZNF347,missense_variant,p.Arg317Cys,ENST00000452676,NM_001172674.1;ZNF347,missense_variant,p.Arg316Cys,ENST00000334197,NM_032584.2;ZNF347,missense_variant,p.Arg317Cys,ENST00000601469,NM_001172675.1;ZNF347,intron_variant,,ENST00000601804,;ZNF347,downstream_gene_variant,,ENST00000595967,;ZNF347,downstream_gene_variant,,ENST00000597183,;	uc002qbb.1	c.946C>T	1015/4193	2	2			c.946C>T						19	SNP	c.(946-948)CGT>TGT	28	28				0	Broad	zinc finger protein 347			53645135		0.373	ENSG00000197937	17602	g.chr19:53645135G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	Melanoma(64;205 1597 17324 45721)			Melanoma(64;205 1597 17324 45721)			77.112433	KEEP	21	16	-1	57	58	21	16	-1	84.966294	57	58	0.246269	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF347_uc010eql.1_Missense_Mutation_p.R317C|ZNF347_uc002qbc.1_Missense_Mutation_p.R317C	188	GBM-26-6174-TP	p.R316C	G	CATTTGTAACGTTTTTCGCCA	NM_032584	NP_115973	53645135	Q96SE7	ZN347_HUMAN	0		GBM - Glioblastoma multiforme(134;0.0179)	5	1015	-	A	A			Missense_Mutation	316						
ZNF347	0	broad.mit.edu	GRCh37	19	53644386	53644386	+	synonymous_variant	Silent	SNP	T	T	A			TCGA-32-2491-01	TCGA-32-2491-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000334197.7:c.1695A>T	p.Gly565=	p.G565=	ENST00000334197	NM_032584.2	565	ggA/ggT	0			1			A	G	uc002qbb.1	protein_coding		CCDS33097.1			1695/2520										0	c.(1693-1695)GGA>GGT			Superfamily_domains:SSF57667,Pfam_domain:PF13465,Gene3D:3.30.160.60,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF95,PROSITE_profiles:PS50157	zinc finger protein 347				ENSP00000334146		5-May									COSM372958	5-May	.		ENST00000334197	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000197937	g.chr19:53644386T>A	16447			LOW								--	--	1																																		ZNF347_uc010eql.1_Silent_p.G566G|ZNF347_uc002qbc.1_Silent_p.G566G	1				p.G565G	NM_032584	NP_115973			1	ZN347_HUMAN	ZNF347	HGNC	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	M0R1E9_HUMAN,M0QZE2_HUMAN,M0QXR8_HUMAN		5	1764	-			UPI000049DED1	565					SNV	ZNF347,synonymous_variant,p.=,ENST00000452676,NM_001172674.1;ZNF347,synonymous_variant,p.=,ENST00000334197,NM_032584.2;ZNF347,synonymous_variant,p.=,ENST00000601469,NM_001172675.1;ZNF347,intron_variant,,ENST00000601804,;ZNF347,downstream_gene_variant,,ENST00000595967,;ZNF347,downstream_gene_variant,,ENST00000597183,;	uc002qbb.1	c.1695A>T	1764/4193	2	2			c.1695A>T						19	SNP	c.(1693-1695)GGA>GGT	30	30				0	Broad	zinc finger protein 347			53644386		0.408	ENSG00000197937	17602	g.chr19:53644386T>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	Melanoma(64;205 1597 17324 45721)			Melanoma(64;205 1597 17324 45721)			-59.865214	KEEP	1	4	-1	121	170	1	4	-1	7.680024	121	170	0.019231	1	0	0	0	0	0	0	1	0	--	--		0	A			ZNF347_uc010eql.1_Silent_p.G566G|ZNF347_uc002qbc.1_Silent_p.G566G	235	GBM-32-2491-TP	p.G565G	T	AAGGTTTTTCTCCAGTATGGA	NM_032584	NP_115973	53644386	Q96SE7	ZN347_HUMAN	0		GBM - Glioblastoma multiforme(134;0.0179)	5	1764	-	A	A			Silent	565						
ZNF350	0	broad.mit.edu	GRCh37	19	52472376	52472376	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-28-6450-01	TCGA-28-6450-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000243644.4:c.24A>G	p.Ile8Met	p.I8M	ENST00000243644	NM_021632.3	8	atA/atG	0			1			C	I/M	uc002pyd.2	protein_coding	YES	CCDS12845.1			24/1599									breast(1)	1	c.(22-24)ATA>ATG			PROSITE_profiles:PS50805,hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF11,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	zinc finger protein 350				ENSP00000243644		5-Mar									COSM3404519	5-Mar	.		ENST00000243644	Transcript			negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	ENSG00000256683	g.chr19:52472376T>C	16656			MODERATE		-0.135	neutral	getma.org/?cm=msa&ty=f&p=ZN350_HUMAN&rb=8&re=48&var=I8M	getma.org/pdb.php?prot=ZN350_HUMAN&from=8&to=48&var=I8M	getma.org/?cm=var&var=hg19,19,52472376,T,C&fts=all	I8M	--	--	1																																		uc002pyb.2_Intron|uc002pyc.2_Intron	1	1		benign(0.038)	p.I8M	NM_021632	NP_067645		deleterious(0.02)	1	ZN350_HUMAN	ZNF350	HGNC	Q9GZX5	ZN350_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)	M0R1T8_HUMAN,M0R017_HUMAN,M0QYT6_HUMAN,M0QY52_HUMAN		3	252	-		all_neural(266;0.0505)	UPI00000721F1	8			KRAB.		SNV	ZNF350,missense_variant,p.Ile8Met,ENST00000243644,NM_021632.3;ZNF350,missense_variant,p.Ile8Met,ENST00000594929,;ZNF350,missense_variant,p.Ile8Met,ENST00000597788,;ZNF350,missense_variant,p.Ile8Met,ENST00000593596,;ZNF350,5_prime_UTR_variant,,ENST00000601430,;HCCAT3,intron_variant,,ENST00000595010,;HCCAT3,intron_variant,,ENST00000600253,;ZNF350,non_coding_transcript_exon_variant,,ENST00000600703,;ZNF350,non_coding_transcript_exon_variant,,ENST00000598254,;ZNF350,downstream_gene_variant,,ENST00000597555,;	uc002pyd.2	c.24A>G	252/2338	3	3			c.24A>G						19	SNP	c.(22-24)ATA>ATG	54	54			breast(1)	1	Broad	zinc finger protein 350			52472376		0.453	ENSG00000256683	17604	g.chr19:52472376T>C	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding							94.539636	KEEP	14	21	-1	33	51	14	21	-1	98.640702	33	51	0.287129	1	0	0	0	0	1	0	0	0	--	--		0	C			uc002pyb.2_Intron|uc002pyc.2_Intron	227	GBM-28-6450-TP	p.I8M	T	CCTCCAGTGTTATGGATTCCT	NM_021632	NP_067645	52472376	Q9GZX5	ZN350_HUMAN	0		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)	3	252	-	C	C		all_neural(266;0.0505)	Missense_Mutation	8			KRAB.			
ZNF354C	30832	broad.mit.edu	GRCh37	5	178506220	178506220	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-6390-01	TCGA-06-6390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315475.6:c.787C>G	p.Gln263Glu	p.Q263E	ENST00000315475	NM_014594.1	263	Cag/Gag	0			1			G	Q/E	uc003mju.2	protein_coding	YES	CCDS4443.1			787/1665									ovary(1)	1	c.(787-789)CAG>GAG			PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF140,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 354C				ENSP00000324064		5-May										5-May	.		ENST00000315475	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000177932	g.chr5:178506220C>G	16736			MODERATE		0.905	low	getma.org/?cm=msa&ty=f&p=Z354C_HUMAN&rb=238&re=303&var=Q263E	getma.org/pdb.php?prot=Z354C_HUMAN&from=258&to=283&var=Q263E	getma.org/?cm=var&var=hg19,5,178506220,C,G&fts=all	Q263E	--	--	1																																				1		probably_damaging(0.993)	p.Q263E	NM_014594	NP_055409		deleterious(0.01)		Z354C_HUMAN	ZNF354C	HGNC	Q86Y25	Z354C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)	Q9NT78_HUMAN		5	902	+	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	UPI0000161A6A	263			C2H2-type 2.		SNV	ZNF354C,missense_variant,p.Gln263Glu,ENST00000315475,NM_014594.1;RP11-281O15.7,downstream_gene_variant,,ENST00000523735,;	uc003mju.2	c.787C>G	1093/5411	3	3			c.787C>G						5	SNP	c.(787-789)CAG>GAG	13	13			ovary(1)	1	Broad	zinc finger protein 354C			178506220		0.388	ENSG00000177932	17607	g.chr5:178506220C>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-7.067136	KEEP	1	3	-1	40	47	1	3	-1	10.947288	40	47	0.048193	1	0	0	0	0	1	0	0	0	--	--		0	G				106	GBM-06-6390-TP	p.Q263E	C	TCTTTCTCATCAGAGAATTCA	NM_014594	NP_055409	178506220	Q86Y25	Z354C_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)	5	902	+	G	G	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Missense_Mutation	263			C2H2-type 2.			
ZNF354C	30832	broad.mit.edu	GRCh37	5	178506565	178506565	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-6390-01	TCGA-06-6390-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000315475.6:c.1132C>A	p.His378Asn	p.H378N	ENST00000315475	NM_014594.1	378	Cat/Aat	0			1			A	H/N	uc003mju.2	protein_coding	YES	CCDS4443.1			1132/1665									ovary(1)	1	c.(1132-1134)CAT>AAT			PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF140,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 354C				ENSP00000324064		5-May										5-May	.		ENST00000315475	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000177932	g.chr5:178506565C>A	16736			MODERATE		3.85	high	getma.org/?cm=msa&ty=f&p=Z354C_HUMAN&rb=350&re=415&var=H378N	getma.org/pdb.php?prot=Z354C_HUMAN&from=370&to=395&var=H378N	getma.org/?cm=var&var=hg19,5,178506565,C,A&fts=all	H378N	--	--	1																																				1		probably_damaging(0.998)	p.H378N	NM_014594	NP_055409		deleterious(0)		Z354C_HUMAN	ZNF354C	HGNC	Q86Y25	Z354C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)	Q9NT78_HUMAN		5	1247	+	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	UPI0000161A6A	378			C2H2-type 6.		SNV	ZNF354C,missense_variant,p.His378Asn,ENST00000315475,NM_014594.1;RP11-281O15.7,downstream_gene_variant,,ENST00000523735,;	uc003mju.2	c.1132C>A	1438/5411	1	1			c.1132C>A						5	SNP	c.(1132-1134)CAT>AAT	62	62			ovary(1)	1	Broad	zinc finger protein 354C			178506565		0.428	ENSG00000177932	17607	g.chr5:178506565C>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-18.567145	KEEP	5	4	0.444444444	70	99	5	4	0.444444444	17.08961	70	99	0.053254	1	0	0	0	0	1	0	0	0	--	--		0	A				106	GBM-06-6390-TP	p.H378N	C	TCAGAGGTTTCATACTGGAGA	NM_014594	NP_055409	178506565	Q86Y25	Z354C_HUMAN	0	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)	5	1247	+	A	A	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Missense_Mutation	378			C2H2-type 6.			
ZNF358	140467	broad.mit.edu	GRCh37	19	7584719	7584719	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0649-01	TCGA-06-0649-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000597229.1:c.592del	p.Arg198ValfsTer26	p.R198Vfs*26	ENST00000597229	NM_018083.4	197	caC/ca	0			1			-	H/X	uc002mgn.2	protein_coding		CCDS32890.2			591/1707									central_nervous_system(1)	1	c.(589-591)CACfs			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24409,hmmpanther:PTHR24409:SF1,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	zinc finger protein 358				ENSP00000377873		1-Jan										1-Jan	.		ENST00000394341	Transcript			embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000198816	g.chr19:7584719delC	16838	1		HIGH								--	--	1																																		MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank					p.H197fs	NM_018083	NP_060553				ZN358_HUMAN	ZNF358	HGNC	Q9NW07	ZN358_HUMAN			M0R2S5_HUMAN		2	761	+			UPI0000201F0C	197			C2H2-type 2.		deletion	ZNF358,frameshift_variant,p.Arg198ValfsTer26,ENST00000597229,NM_018083.4;ZNF358,frameshift_variant,p.Arg198ValfsTer26,ENST00000394341,;MCOLN1,upstream_gene_variant,,ENST00000264079,NM_020533.2;MCOLN1,upstream_gene_variant,,ENST00000601003,;ZNF358,downstream_gene_variant,,ENST00000596712,;CTD-2207O23.12,downstream_gene_variant,,ENST00000599312,;CTD-2207O23.11,downstream_gene_variant,,ENST00000602083,;MCOLN1,upstream_gene_variant,,ENST00000394321,;MCOLN1,upstream_gene_variant,,ENST00000596390,;CTD-2207O23.12,downstream_gene_variant,,ENST00000597384,;	uc002mgn.2	c.591delC	632/1824	5	5			c.591delC						19	DEL	c.(589-591)CACfs	30	30			central_nervous_system(1)	1	Broad	zinc finger protein 358			7584719		0.711	ENSG00000198816	17608	g.chr19:7584719delC	embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding																				0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank	62	GBM-06-0649-TP	p.H197fs	C	TGGCTCAGCACCGTGGCATCC	NM_018083	NP_060553	7584719	Q9NW07	ZN358_HUMAN	0			2	761	+	-	-			Frame_Shift_Del	197			C2H2-type 2.			
ZNF358	0	broad.mit.edu	GRCh37	19	7585663	7585663	+	missense_variant	Missense_Mutation	SNP	T	T	C	rs28655671		TCGA-12-5299-01	TCGA-12-5299-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394341.2:c.1535T>C	p.Leu512Pro	p.L512P	ENST00000394341		512	cTt/cCt	0		C:0	1	C:0		C	L/P	uc002mgn.2	protein_coding		CCDS32890.2			1535/1707									central_nervous_system(1)	1	c.(1534-1536)CTT>CCT			Low_complexity_(Seg):seg	zinc finger protein 358		C:0.001		ENSP00000377873	C:0	1-Jan									rs28655671,COSM3404775	1-Jan	.		ENST00000394341	Transcript		C:0.0002	embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000198816	g.chr19:7585663T>C	16838			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=ZN358_HUMAN&rb=461&re=567&var=L512P	NA	getma.org/?cm=var&var=hg19,19,7585663,T,C&fts=all	L512P	--	--	1																																		MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank	0,1			benign(0)	p.L512P	NM_018083	NP_060553	C:0	tolerated_low_confidence(0.26)	0,1	ZN358_HUMAN	ZNF358	HGNC	Q9NW07	ZN358_HUMAN			M0R2S5_HUMAN		2	1705	+			UPI0000201F0C	512					SNV	ZNF358,missense_variant,p.Leu512Pro,ENST00000597229,NM_018083.4;ZNF358,missense_variant,p.Leu512Pro,ENST00000394341,;MCOLN1,upstream_gene_variant,,ENST00000264079,NM_020533.2;MCOLN1,upstream_gene_variant,,ENST00000601003,;ZNF358,downstream_gene_variant,,ENST00000596712,;CTD-2207O23.12,downstream_gene_variant,,ENST00000599312,;CTD-2207O23.11,upstream_gene_variant,,ENST00000602083,;MCOLN1,upstream_gene_variant,,ENST00000394321,;MCOLN1,upstream_gene_variant,,ENST00000596390,;CTD-2207O23.12,downstream_gene_variant,,ENST00000597384,;	uc002mgn.2	c.1535T>C	1576/1824	3	3			c.1535T>C						19	SNP	c.(1534-1536)CTT>CCT	9	9			central_nervous_system(1)	1	Broad	zinc finger protein 358			7585663		0.537	ENSG00000198816	17608	g.chr19:7585663T>C	embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							77.970396	KEEP	26	24	-1	56	66	26	24	-1	87.497174	56	66	0.226277	1	0	0	0	0	1	0	0	0	--	--		0	C			MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank	130	GBM-12-5299-TP	p.L512P	T	AGCCCAGACCTTGATCCTGTG	NM_018083	NP_060553	7585663	Q9NW07	ZN358_HUMAN	0			2	1705	+	C	C			Missense_Mutation	512						
ZNF362	149076	broad.mit.edu	GRCh37	1	33745881	33745881	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0875-01	TCGA-06-0875-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000539719.1:c.506G>A	p.Ser169Asn	p.S169N	ENST00000539719	NM_152493.2	169	aGc/aAc	0			1			A	S/N	uc001bxc.1	protein_coding		CCDS377.1			506/1263										0	c.(505-507)AGC>AAC			hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF454	zinc finger protein 362				ENSP00000362527		8-Apr									COSM2152042	8-Apr	.		ENST00000373428	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000160094	g.chr1:33745881G>A	18079			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=ZN362_HUMAN&rb=169&re=240&var=S169N	NA	getma.org/?cm=var&var=hg19,1,33745881,G,A&fts=all	S169N	--	--	1																																			1			benign(0.206)	p.S169N	NM_152493	NP_689706		deleterious(0.05)	1	ZN362_HUMAN	ZNF362	HGNC	Q5T0B9	ZN362_HUMAN			F5H055_HUMAN		5	676	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	UPI000013E046	169					SNV	ZNF362,missense_variant,p.Ser169Asn,ENST00000539719,NM_152493.2;ZNF362,missense_variant,p.Ser169Asn,ENST00000373428,;ZNF362,missense_variant,p.Ser156Asn,ENST00000483388,;ZNF362,upstream_gene_variant,,ENST00000477934,;	uc001bxc.1	c.506G>A	506/2936	1	1			c.506G>A						1	SNP	c.(505-507)AGC>AAC	64	64				0	Broad	zinc finger protein 362			33745881		0.677	ENSG00000160094	17609	g.chr1:33745881G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	Pancreas(162;1431 2676 35353 38425)			Pancreas(162;1431 2676 35353 38425)			130.728668	KEEP	22	46	-1	43	78	22	46	-1	133.353211	43	78	0.358108	1	0	0	0	0	1	0	0	0	--	--		0	A				71	GBM-06-0875-TP	p.S169N	G	GGGATCACCAGCCCCCCTCTC	NM_152493	NP_689706	33745881	Q5T0B9	ZN362_HUMAN	0			5	676	+	A	A		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	Missense_Mutation	169						
ZNF365	0	broad.mit.edu	GRCh37	10	64159484	64159484	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01	TCGA-32-1977-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395254.3:c.1160G>A	p.Arg387His	p.R387H	ENST00000395254	NM_014951.2	387	cGc/cAc	0			1			A	R/H	uc001jly.3	protein_coding		CCDS31209.1			1160/1224									ovary(1)|skin(1)	2	c.(1204-1206)CGC>CAC			hmmpanther:PTHR15739	zinc finger protein 365 isoform A				ENSP00000378674		5-May	4.94E-05	0.000193		0.000236		3.02E-05			COSM3397201	5-May	.		ENST00000395254	Transcript	1					ENSG00000138311	g.chr10:64159484G>A	18194			MODERATE		1.935	medium	getma.org/?cm=msa&ty=f&p=ZN365_HUMAN&rb=1&re=405&var=R387H	NA	getma.org/?cm=var&var=hg19,10,64159484,G,A&fts=all	R387H	--	--	1																																		ZNF365_uc001jmb.3_Intron|ZNF365_uc001jmc.2_Intron|ZNF365_uc001jlz.3_Missense_Mutation_p.R387H|ZNF365_uc001jma.3_RNA	1			probably_damaging(1)	p.R402H	NM_014951	NP_055766		deleterious_low_confidence(0)	1	ZN365_HUMAN	ZNF365	HGNC	Q70YC4	TALAN_HUMAN			C9J1G1_HUMAN		5	1267	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		UPI000013D112	Error:Variant_position_missing_in_Q70YC4_after_alignment					SNV	ZNF365,missense_variant,p.Arg387His,ENST00000395254,NM_014951.2;ZNF365,intron_variant,,ENST00000410046,NM_199451.2;ZNF365,intron_variant,,ENST00000395255,NM_199450.2;ZNF365,non_coding_transcript_exon_variant,,ENST00000466727,;	uc001jly.3	c.1205G>A	1440/4173	2	2			c.1205G>A						10	SNP	c.(1204-1206)CGC>CAC	32	32			ovary(1)|skin(1)	2	Broad	zinc finger protein 365 isoform A			64159484		0.537	ENSG00000138311	17610	g.chr10:64159484G>A										-13.765777	KEEP	2	2	-1	47	44	2	2	-1	6.774677	47	44	0.043478	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF365_uc001jmb.3_Intron|ZNF365_uc001jmc.2_Intron|ZNF365_uc001jlz.3_Missense_Mutation_p.R387H|ZNF365_uc001jma.3_RNA	229	GBM-32-1977-TP	p.R402H	G	GGGTTTGGCCGCAAAGGCAAC	NM_014951	NP_055766	64159484	Q70YC4	TALAN_HUMAN	0			5	1267	+	A	A	Prostate(12;0.0297)|all_hematologic(501;0.228)		Missense_Mutation	Error:Variant_position_missing_in_Q70YC4_after_alignment						
ZNF365	22891		GRCh37	10	64415230	64415230	+	intron_variant	Intron	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000410046.3:c.1130-926G>A		p.*377*	ENST00000410046	NM_199451.2			0																																																																																																																																																																																																																																												
ZNF366	167465	broad.mit.edu	GRCh37	5	71752388	71752388	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318442.5:c.1367G>A	p.Arg456Gln	p.R456Q	ENST00000318442	NM_152625.1	456	cGg/cAg	0			1			T	R/Q	uc003kce.1	protein_coding	YES	CCDS4015.1			1367/2235									central_nervous_system(1)|skin(1)	2	c.(1366-1368)CGG>CAG			Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24390,hmmpanther:PTHR24390:SF38,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 366				ENSP00000313158		5-Mar									COSM1581962	5-Mar	.		ENST00000318442	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000178175	g.chr5:71752388C>T	18316			MODERATE		1.005	low	getma.org/?cm=msa&ty=f&p=ZN366_HUMAN&rb=415&re=479&var=R456Q	getma.org/pdb.php?prot=ZN366_HUMAN&from=435&to=459&var=R456Q	getma.org/?cm=var&var=hg19,5,71752388,C,T&fts=all	R456Q	--	--	1																																			1	1		possibly_damaging(0.718)	p.R456Q	NM_152625	NP_689838		deleterious(0.01)	1	ZN366_HUMAN	ZNF366	HGNC	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	F8W732_HUMAN		3	1553	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	UPI000013C368	456			C2H2-type 8.		SNV	ZNF366,missense_variant,p.Arg456Gln,ENST00000318442,NM_152625.1;ZNF366,downstream_gene_variant,,ENST00000414109,;ZNF366,downstream_gene_variant,,ENST00000514477,;	uc003kce.1	c.1367G>A	1858/3830	1	1			c.1367G>A						5	SNP	c.(1366-1368)CGG>CAG	14	14			central_nervous_system(1)|skin(1)	2	Broad	zinc finger protein 366			71752388		0.527	ENSG00000178175	17611	g.chr5:71752388C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							249.202721	KEEP	50	51	-1	107	113	50	51	-1	257.811685	107	113	0.317241	1	0	0	0	0	1	0	0	0	--	--		0	T				100	GBM-06-5418-TP	p.R456Q	C	GGTGAACTCCCGCCCACAAAT	NM_152625	NP_689838	71752388	Q8N895	ZN366_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	3	1553	-	T	T		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	Missense_Mutation	456			C2H2-type 8.			
ZNF366	0	broad.mit.edu	GRCh37	5	71757119	71757120	+	missense_variant	Missense_Mutation	DNP	CG	CG	AT			TCGA-28-5211-01	TCGA-28-5211-01	CG	CG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000318442.5:c.204_205delCGinsAT	p.Gly69Trp	p.G69W	ENST00000318442	NM_152625.1	68	ccCGgg/ccATgg	0			1			AT	PG/PW	uc003kce.1	protein_coding	YES	CCDS4015.1			204-205/2235									central_nervous_system(1)|skin(1)	2	c.(202-207)CCCGGG>CCATGG			hmmpanther:PTHR24390,hmmpanther:PTHR24390:SF38	zinc finger protein 366				ENSP00000313158		5-Feb										5-Feb	.		ENST00000318442	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000178175	g.chr5:71757119_71757120CG>AT	18316			MODERATE								--	--	1																																				1			p.G69W	NM_152625	NP_689838				ZN366_HUMAN	ZNF366	HGNC	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	F8W732_HUMAN		2	390_391	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	UPI000013C368	69					substitution	ZNF366,missense_variant,p.Gly69Trp,ENST00000318442,NM_152625.1;ZNF366,downstream_gene_variant,,ENST00000414109,;ZNF366,intron_variant,,ENST00000514477,;	uc003kce.1	c.204_205CG>AT	695-696/3830	2	2			c.204_205CG>AT						5	DNP	c.(202-207)CCCGGG>CCATGG	48	48			central_nervous_system(1)|skin(1)	2	Broad	zinc finger protein 366			71757120		0.584	ENSG00000178175	17611	g.chr5:71757119_71757120CG>AT	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-7.974327	KEEP	0	0	-1	0	0	0	0	-1	7.446786	0	0	0.064103	1	0	0	0	0	1	0	0	0	--	--		0	AT				219	GBM-28-5211-TP	p.G69W	CG	TCGAAGACCCCGGGGAACCCAT	NM_152625	NP_689838	71757119	Q8N895	ZN366_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	2	390_391	-	AT	AT		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	Missense_Mutation	69						
ZNF37A	7587	broad.mit.edu	GRCh37	10	38407378	38407378	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0141-01	TCGA-06-0141-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361085.5:c.1299C>A	p.His433Gln	p.H433Q	ENST00000361085	NM_001178101.1	433	caC/caA	0			1			A	H/Q	uc001izk.2	protein_coding		CCDS31183.1			1299/1686									breast(1)	1	c.(1297-1299)CAC>CAA			PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF188,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 37a				ENSP00000329141		8-Aug									COSM3397114,COSM3397113	8-Aug	.		ENST00000351773	Transcript				nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000075407	g.chr10:38407378C>A	13102			MODERATE		3.35	medium	getma.org/?cm=msa&ty=f&p=ZN37A_HUMAN&rb=405&re=468&var=H433Q	getma.org/pdb.php?prot=ZN37A_HUMAN&from=425&to=448&var=H433Q	getma.org/?cm=var&var=hg19,10,38407378,C,A&fts=all	H433Q	--	--	1																																		ZNF37A_uc001izl.2_Missense_Mutation_p.H433Q|ZNF37A_uc001izm.2_Missense_Mutation_p.H433Q	1,1			probably_damaging(0.98)	p.H433Q	NM_001007094	NP_001007095		deleterious(0)	1,1	ZN37A_HUMAN	ZNF37A	HGNC	P17032	ZN37A_HUMAN					8	2118	+			UPI000006E045	433			C2H2-type 8.		SNV	ZNF37A,missense_variant,p.His433Gln,ENST00000361085,NM_001178101.1,NM_003421.2;ZNF37A,missense_variant,p.His433Gln,ENST00000351773,NM_001007094.2;ZNF37A,downstream_gene_variant,,ENST00000479469,;ZNF37A,downstream_gene_variant,,ENST00000477790,;	uc001izk.2	c.1299C>A	2129/7027	2	2			c.1299C>A						10	SNP	c.(1297-1299)CAC>CAA	47	47			breast(1)	1	Broad	zinc finger protein 37a			38407378		0.383	ENSG00000075407	17613	g.chr10:38407378C>A		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							-6.563884	KEEP	2	2	0.5	36	40	2	2	0.5	8.678608	36	40	0.054795	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF37A_uc001izl.2_Missense_Mutation_p.H433Q|ZNF37A_uc001izm.2_Missense_Mutation_p.H433Q	21	GBM-06-0141-TP	p.H433Q	C	TAAGAACTCACACAGGTGAGA	NM_001007094	NP_001007095	38407378	P17032	ZN37A_HUMAN	0			8	2118	+	A	A			Missense_Mutation	433			C2H2-type 8.			
ZNF37A	0	broad.mit.edu	GRCh37	10	38404217	38404217	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T			TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000351773.3:c.237G>T	p.Leu79=	p.L79=	ENST00000351773	NM_001007094.2	79	ctG/ctT	0			1			T	L	uc001izk.2	protein_coding		CCDS31183.1			237/1686									breast(1)	1	c.(235-237)CTG>CTT			PROSITE_profiles:PS50805,hmmpanther:PTHR24377:SF188,hmmpanther:PTHR24377	zinc finger protein 37a				ENSP00000329141		8-Jul									COSM3397112,COSM3397111	8-Jul	.		ENST00000351773	Transcript				nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000075407	g.chr10:38404217G>T	13102			LOW								--	--	1																																		ZNF37A_uc001izl.2_Silent_p.L79L|ZNF37A_uc001izm.2_Silent_p.L79L	1,1				p.L79L	NM_001007094	NP_001007095			1,1	ZN37A_HUMAN	ZNF37A	HGNC	P17032	ZN37A_HUMAN					7	1056	+			UPI000006E045	79			KRAB.		SNV	ZNF37A,splice_region_variant,p.=,ENST00000361085,NM_001178101.1,NM_003421.2;ZNF37A,splice_region_variant,p.=,ENST00000351773,NM_001007094.2;ZNF37A,non_coding_transcript_exon_variant,,ENST00000479469,;ZNF37A,non_coding_transcript_exon_variant,,ENST00000477790,;	uc001izk.2	c.237G>T	1067/7027	1	1			c.237G>T						10	SNP	c.(235-237)CTG>CTT	3	3			breast(1)	1	Broad	zinc finger protein 37a			38404217		0.393	ENSG00000075407	17613	g.chr10:38404217G>T		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							45.047852	KEEP	3	11	0.214285714	12	6	3	11	0.214285714	45.076853	12	6	0.466667	1	0	0	0	0	0	0	1	0	--	--		0	T			ZNF37A_uc001izl.2_Silent_p.L79L|ZNF37A_uc001izm.2_Silent_p.L79L	232	GBM-32-1982-TP	p.L79L	G	AGAGTCATCTGGGTGAGTTAG	NM_001007094	NP_001007095	38404217	P17032	ZN37A_HUMAN	0			7	1056	+	T	T			Silent	79			KRAB.			
ZNF385B	0	broad.mit.edu	GRCh37	2	180634432	180634432	+	synonymous_variant	Silent	SNP	G	G	A	rs61747266	byFrequency;by1000genomes	TCGA-06-6701-01	TCGA-06-6701-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000410066.1:c.51C>T	p.Asn17=	p.N17=	ENST00000410066	NM_152520.4	17	aaC/aaT	0	A:0.0102	A:0.0113	1	A:0		A	N	uc002unn.3	protein_coding	YES	CCDS33339.1			51/1416									ovary(1)	1	c.(49-51)AAC>AAT				zinc finger protein 385B isoform 1		A:0	A:0	ENSP00000386845	A:0	10-Mar	0.00108	0.0108	0.000345	0.000231		0.00015		0.000182	rs61747266,COSM3407372	10-Mar	common_variant		ENST00000410066	Transcript		A:0.0030		nucleus	nucleic acid binding|zinc ion binding	ENSG00000144331	g.chr2:180634432G>A	26332			LOW								--	--	1																																			0,1	1			p.N17N	NM_152520	NP_689733	A:0		0,1	Z385B_HUMAN	ZNF385B	HGNC	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		Q53S82_HUMAN,Q53R81_HUMAN,C9JPH4_HUMAN,C9JKK0_HUMAN,C9J0U3_HUMAN		3	655	-			UPI00004F9C24	17					SNV	ZNF385B,synonymous_variant,p.=,ENST00000410066,NM_152520.4;ZNF385B,synonymous_variant,p.=,ENST00000451732,;ZNF385B,synonymous_variant,p.=,ENST00000438871,;	uc002unn.3	c.51C>T	655/3288	2	2			c.51C>T						2	SNP	c.(49-51)AAC>AAT	22	22			ovary(1)	1	Broad	zinc finger protein 385B isoform 1			180634432		0.463	ENSG00000144331	17618	g.chr2:180634432G>A		nucleus	nucleic acid binding|zinc ion binding	Colon(155;204 2491 32774 51842)			Colon(155;204 2491 32774 51842)			-15.235875	KEEP	4	2	-1	57	75	4	2	-1	10.256554	57	75	0.05042	1	0	0	0	0	0	0	1	0	--	--		0	A				115	GBM-06-6701-TP	p.N17N	G	CAGGCCTGTCGTTCTTTATCC	NM_152520	NP_689733	180634432	Q569K4	Z385B_HUMAN	0	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		3	655	-	A	A			Silent	17						
ZNF385D	79750	broad.mit.edu	GRCh37	3	21706493	21706493	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-2483-01	TCGA-02-2483-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281523.2:c.50C>T	p.Pro17Leu	p.P17L	ENST00000281523	NM_024697.2	17	cCg/cTg	0			1			A	P/L	uc003cce.2	protein_coding	YES	CCDS2636.1			50/1188									large_intestine(2)|skin(2)|ovary(1)	5	c.(49-51)CCG>CTG			hmmpanther:PTHR23067,hmmpanther:PTHR23067:SF12,Low_complexity_(Seg):seg	zinc finger protein 385D				ENSP00000281523		8-Feb	8.24E-06		8.77E-05						rs777345108,COSM3408562	8-Feb	.		ENST00000281523	Transcript				nucleus	nucleic acid binding|zinc ion binding	ENSG00000151789	g.chr3:21706493G>A	26191			MODERATE		0.82	low	getma.org/?cm=msa&ty=f&p=Z385D_HUMAN&rb=1&re=79&var=P17L	NA	getma.org/?cm=var&var=hg19,3,21706493,G,A&fts=all	P17L	--	--	1																																		ZNF385D_uc010hfb.1_Intron	0,1	1		benign(0.027)	p.P17L	NM_024697	NP_078973		tolerated(0.39)	0,1	Z385D_HUMAN	ZNF385D	HGNC	Q9H6B1	Z385D_HUMAN					2	458	-			UPI00000724AC	17					SNV	ZNF385D,missense_variant,p.Pro17Leu,ENST00000281523,NM_024697.2;ZNF385D,non_coding_transcript_exon_variant,,ENST00000494108,;ZNF385D,non_coding_transcript_exon_variant,,ENST00000478967,;ZNF385D,intron_variant,,ENST00000494118,;ZNF385D,missense_variant,p.Pro17Leu,ENST00000446749,;	uc003cce.2	c.50C>T	569/4498	1	1			c.50C>T						3	SNP	c.(49-51)CCG>CTG	52	52			large_intestine(2)|skin(2)|ovary(1)	5	Broad	zinc finger protein 385D			21706493		0.517	ENSG00000151789	17619	g.chr3:21706493G>A		nucleus	nucleic acid binding|zinc ion binding							-8.026988	KEEP	1	2	-1	29	39	1	2	-1	6.535398	29	39	0.045455	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF385D_uc010hfb.1_Intron	6	GBM-02-2483-TP	p.P17L	G	GACAAGGGCCGGGAGAGCAGG	NM_024697	NP_078973	21706493	Q9H6B1	Z385D_HUMAN	0			2	458	-	A	A			Missense_Mutation	17						
ZNF385D	0	broad.mit.edu	GRCh37	3	21606168	21606168	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-3652-01	TCGA-12-3652-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281523.2:c.174G>A	p.Pro58=	p.P58=	ENST00000281523	NM_024697.2	58	ccG/ccA	0			1			T	P	uc003cce.2	protein_coding	YES	CCDS2636.1			174/1188									large_intestine(2)|skin(2)|ovary(1)	5	c.(172-174)CCG>CCA			hmmpanther:PTHR23067,hmmpanther:PTHR23067:SF12,Superfamily_domains:SSF57667	zinc finger protein 385D				ENSP00000281523		8-Mar	4.94E-05			0.000116		1.51E-05		0.000245	rs757564443,COSM2948536	8-Mar	.		ENST00000281523	Transcript				nucleus	nucleic acid binding|zinc ion binding	ENSG00000151789	g.chr3:21606168C>T	26191			LOW								--	--	1																																		ZNF385D_uc010hfb.1_RNA	0,1	1			p.P58P	NM_024697	NP_078973			0,1	Z385D_HUMAN	ZNF385D	HGNC	Q9H6B1	Z385D_HUMAN					3	582	-			UPI00000724AC	58					SNV	ZNF385D,synonymous_variant,p.=,ENST00000281523,NM_024697.2;ZNF385D-AS1,intron_variant,,ENST00000412369,;ZNF385D,non_coding_transcript_exon_variant,,ENST00000494118,;ZNF385D,non_coding_transcript_exon_variant,,ENST00000494108,;ZNF385D,non_coding_transcript_exon_variant,,ENST00000478967,;ZNF385D,non_coding_transcript_exon_variant,,ENST00000469927,;ZNF385D,synonymous_variant,p.=,ENST00000446749,;	uc003cce.2	c.174G>A	693/4498	1	1			c.174G>A						3	SNP	c.(172-174)CCG>CCA	3	3			large_intestine(2)|skin(2)|ovary(1)	5	Broad	zinc finger protein 385D			21606168		0.358	ENSG00000151789	17619	g.chr3:21606168C>T		nucleus	nucleic acid binding|zinc ion binding							125.993156	KEEP	29	16	-1	44	49	29	16	-1	128.915657	44	49	0.338583	1	0	0	0	0	0	0	1	0	--	--		0	T			ZNF385D_uc010hfb.1_RNA	127	GBM-12-3652-TP	p.P58P	C	CTTTCTGAATCGGGTCCATCT	NM_024697	NP_078973	21606168	Q9H6B1	Z385D_HUMAN	0			3	582	-	T	T			Silent	58						
ZNF385D	0	broad.mit.edu	GRCh37	3	21792472	21792472	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A			TCGA-32-2638-01	TCGA-32-2638-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000281523.2:c.-64C>T		*22*	ENST00000281523	NM_024697.2			0			1			A		uc003cce.2	protein_coding	YES	CCDS2636.1			-/1188									large_intestine(2)|skin(2)|ovary(1)	5	c.(-65--61)TACGT>TATGT				zinc finger protein 385D				ENSP00000281523		8-Jan										8-Jan	.		ENST00000281523	Transcript				nucleus	nucleic acid binding|zinc ion binding	ENSG00000151789	g.chr3:21792472G>A	26191			MODIFIER								--	--	1																																		ZNF385D_uc010hfb.1_Intron		1				NM_024697	NP_078973				Z385D_HUMAN	ZNF385D	HGNC	Q9H6B1	Z385D_HUMAN					1	345	-			UPI00000724AC						SNV	ZNF385D,5_prime_UTR_variant,,ENST00000281523,NM_024697.2;ZNF385D,intron_variant,,ENST00000494118,;ZNF385D,intron_variant,,ENST00000494108,;ZNF385D,intron_variant,,ENST00000478967,;ZNF385D,5_prime_UTR_variant,,ENST00000446749,;	uc003cce.2	c.-63C>T	456/4498	2	2			c.-63C>T						3	SNP	c.(-65--61)TACGT>TATGT	29	29			large_intestine(2)|skin(2)|ovary(1)	5	Broad	zinc finger protein 385D			21792472		0.557	ENSG00000151789	17619	g.chr3:21792472G>A		nucleus	nucleic acid binding|zinc ion binding							6.877066	KEEP	5	2	-1	31	26	5	2	-1	16.0509	31	26	0.112903	1	0	0	0	0	0	0	0	0	--	--		0	A			ZNF385D_uc010hfb.1_Intron	242	GBM-32-2638-TP		G	AGGCTGGCACGTAGAGCAGAG	NM_024697	NP_078973	21792472	Q9H6B1	Z385D_HUMAN	0			1	345	-	A	A			Translation_Start_Site							
ZNF407	55628	broad.mit.edu	GRCh37	18	72345426	72345426	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-06-0128-01	TCGA-06-0128-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299687.5:c.2451G>C	p.Ala817=	p.A817=	ENST00000299687	NM_017757.2	817	gcG/gcC	0			1			C	A	uc002llw.2	protein_coding	YES	CCDS45885.1			2451/6747									ovary(2)	2	c.(2449-2451)GCG>GCC			hmmpanther:PTHR24402:SF5,hmmpanther:PTHR24402	zinc finger protein 407 isoform 1				ENSP00000299687		8-Jan									COSM3403656,COSM3403657,COSM3403655	8-Jan	.		ENST00000299687	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000215421	g.chr18:72345426G>C	19904			LOW								--	--	1																																		ZNF407_uc010xfc.1_Silent_p.A817A|ZNF407_uc010dqu.1_Silent_p.A817A|ZNF407_uc002llu.2_Silent_p.A816A	1,1,1	1			p.A817A	NM_017757	NP_060227			1,1,1	ZN407_HUMAN	ZNF407	HGNC	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)			1	2508	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	UPI0000F58ED1	817					SNV	ZNF407,synonymous_variant,p.=,ENST00000299687,NM_017757.2;ZNF407,synonymous_variant,p.=,ENST00000577538,NM_001146189.1;ZNF407,synonymous_variant,p.=,ENST00000582337,;ZNF407,synonymous_variant,p.=,ENST00000309902,NM_001146190.1;	uc002llw.2	c.2451G>C	2451/7948	3	3			c.2451G>C						18	SNP	c.(2449-2451)GCG>GCC	4	4			ovary(2)	2	Broad	zinc finger protein 407 isoform 1			72345426		0.438	ENSG00000215421	17628	g.chr18:72345426G>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-54.783627	KEEP	2	1	-1	121	120	2	1	-1	6.310073	121	120	0.013274	1	0	0	0	0	0	0	1	0	--	--		0	C			ZNF407_uc010xfc.1_Silent_p.A817A|ZNF407_uc010dqu.1_Silent_p.A817A|ZNF407_uc002llu.2_Silent_p.A816A	14	GBM-06-0128-TP	p.A817A	G	GCATGCTGGCGTCTGAGGAAC	NM_017757	NP_060227	72345426	Q9C0G0	ZN407_HUMAN	0		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	2508	+	C	C		Esophageal squamous(42;0.131)|Prostate(75;0.173)	Silent	817						
ZNF407	55628	broad.mit.edu	GRCh37	18	72775723	72775723	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0171-01	TCGA-06-0171-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299687.5:c.6046G>A	p.Ala2016Thr	p.A2016T	ENST00000299687	NM_017757.2	2016	Gcc/Acc	0		A:0.0008	1	A:0		A	A/T	uc002llw.2	protein_coding	YES	CCDS45885.1			6046/6747									ovary(2)	2	c.(6046-6048)GCC>ACC				zinc finger protein 407 isoform 1		A:0		ENSP00000299687	A:0	8-Aug	0.000182	0.00023		0.000357		0.000269			rs546961134,COSM2150298	8-Aug	.		ENST00000299687	Transcript		A:0.0002	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000215421	g.chr18:72775723G>A	19904			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=ZN407_HUMAN&rb=1871&re=2246&var=A2016T	NA	getma.org/?cm=var&var=hg19,18,72775723,G,A&fts=all	A2016T	--	--	1																																			0,1	1		benign(0.006)	p.A2016T	NM_017757	NP_060227	A:0	tolerated(0.31)	0,1	ZN407_HUMAN	ZNF407	HGNC	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)			8	6103	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	UPI0000F58ED1	2016					SNV	ZNF407,missense_variant,p.Ala2016Thr,ENST00000299687,NM_017757.2;ZNF407,downstream_gene_variant,,ENST00000582214,;ZNF407,non_coding_transcript_exon_variant,,ENST00000579200,;	uc002llw.2	c.6046G>A	6046/7948	2	2			c.6046G>A						18	SNP	c.(6046-6048)GCC>ACC	22	22			ovary(2)	2	Broad	zinc finger protein 407 isoform 1			72775723		0.672	ENSG00000215421	17628	g.chr18:72775723G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							36.202432	KEEP	7	8	-1	10	9	7	8	-1	36.325288	10	9	0.428571	1	0	0	0	0	1	0	0	0	--	--		0	A				35	GBM-06-0171-TP	p.A2016T	G	CAGGCCCGGCGCCAAAGACGT	NM_017757	NP_060227	72775723	Q9C0G0	ZN407_HUMAN	0		BRCA - Breast invasive adenocarcinoma(31;0.184)	8	6103	+	A	A		Esophageal squamous(42;0.131)|Prostate(75;0.173)	Missense_Mutation	2016						
ZNF407	55628	broad.mit.edu	GRCh37	18	72775604	72775604	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01	TCGA-06-2562-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299687.5:c.5927C>T	p.Ser1976Leu	p.S1976L	ENST00000299687	NM_017757.2	1976	tCg/tTg	0			1			T	S/L	uc002llw.2	protein_coding	YES	CCDS45885.1			5927/6747									ovary(2)	2	c.(5926-5928)TCG>TTG				zinc finger protein 407 isoform 1				ENSP00000299687		8-Aug	2.48E-05		0.000334			7.31E-05			rs750214167,COSM3146606	8-Aug	.		ENST00000299687	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000215421	g.chr18:72775604C>T	19904			MODERATE		1.245	low	getma.org/?cm=msa&ty=f&p=ZN407_HUMAN&rb=1871&re=2246&var=S1976L	NA	getma.org/?cm=var&var=hg19,18,72775604,C,T&fts=all	S1976L	--	--	1																																			0,1	1		benign(0.019)	p.S1976L	NM_017757	NP_060227		deleterious(0.01)	0,1	ZN407_HUMAN	ZNF407	HGNC	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)			8	5984	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	UPI0000F58ED1	1976					SNV	ZNF407,missense_variant,p.Ser1976Leu,ENST00000299687,NM_017757.2;ZNF407,downstream_gene_variant,,ENST00000582214,;ZNF407,non_coding_transcript_exon_variant,,ENST00000579200,;	uc002llw.2	c.5927C>T	5927/7948	1	1			c.5927C>T						18	SNP	c.(5926-5928)TCG>TTG	8	8			ovary(2)	2	Broad	zinc finger protein 407 isoform 1			72775604		0.617	ENSG00000215421	17628	g.chr18:72775604C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							9.993183	KEEP	2	4	-1	4	10	2	4	-1	10.570772	4	10	0.285714	1	0	0	0	0	1	0	0	0	--	--		0	T				85	GBM-06-2562-TP	p.S1976L	C	TTAAACCTCTCGGAGGCTGGA	NM_017757	NP_060227	72775604	Q9C0G0	ZN407_HUMAN	0		BRCA - Breast invasive adenocarcinoma(31;0.184)	8	5984	+	T	T		Esophageal squamous(42;0.131)|Prostate(75;0.173)	Missense_Mutation	1976						
ZNF407	55628	broad.mit.edu	GRCh37	18	72345779	72345779	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01	TCGA-06-2565-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299687.5:c.2804C>T	p.Ala935Val	p.A935V	ENST00000299687	NM_017757.2	935	gCt/gTt	0			1			T	A/V	uc002llw.2	protein_coding	YES	CCDS45885.1			2804/6747									ovary(2)	2	c.(2803-2805)GCT>GTT			hmmpanther:PTHR24402:SF5,hmmpanther:PTHR24402	zinc finger protein 407 isoform 1				ENSP00000299687		8-Jan									COSM3403659,COSM3403660,COSM3403658	8-Jan	.		ENST00000299687	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000215421	g.chr18:72345779C>T	19904			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=ZN407_HUMAN&rb=930&re=1030&var=A935V	NA	getma.org/?cm=var&var=hg19,18,72345779,C,T&fts=all	A935V	--	--	1																																		ZNF407_uc010xfc.1_Missense_Mutation_p.A935V|ZNF407_uc010dqu.1_Missense_Mutation_p.A935V|ZNF407_uc002llu.2_Missense_Mutation_p.A934V	1,1,1	1		benign(0.053)	p.A935V	NM_017757	NP_060227		tolerated(0.7)	1,1,1	ZN407_HUMAN	ZNF407	HGNC	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)			1	2861	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	UPI0000F58ED1	935					SNV	ZNF407,missense_variant,p.Ala935Val,ENST00000299687,NM_017757.2;ZNF407,missense_variant,p.Ala935Val,ENST00000577538,NM_001146189.1;ZNF407,missense_variant,p.Ala935Val,ENST00000582337,;ZNF407,missense_variant,p.Ala935Val,ENST00000309902,NM_001146190.1;	uc002llw.2	c.2804C>T	2804/7948	2	2			c.2804C>T						18	SNP	c.(2803-2805)GCT>GTT	26	26			ovary(2)	2	Broad	zinc finger protein 407 isoform 1			72345779		0.453	ENSG00000215421	17628	g.chr18:72345779C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-21.468899	KEEP	0	4	-1	57	63	0	4	-1	6.521472	57	63	0.026549	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF407_uc010xfc.1_Missense_Mutation_p.A935V|ZNF407_uc010dqu.1_Missense_Mutation_p.A935V|ZNF407_uc002llu.2_Missense_Mutation_p.A934V	88	GBM-06-2565-TP	p.A935V	C	AAAAAGAATGCTGGCTCAGCA	NM_017757	NP_060227	72345779	Q9C0G0	ZN407_HUMAN	0		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	2861	+	T	T		Esophageal squamous(42;0.131)|Prostate(75;0.173)	Missense_Mutation	935						
ZNF407	0	broad.mit.edu	GRCh37	18	72343319	72343319	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-19-2629-01	TCGA-19-2629-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299687.5:c.344C>A	p.Thr115Asn	p.T115N	ENST00000299687	NM_017757.2	115	aCc/aAc	0			1			A	T/N	uc002llw.2	protein_coding	YES	CCDS45885.1			344/6747									ovary(2)	2	c.(343-345)ACC>AAC				zinc finger protein 407 isoform 1				ENSP00000299687		8-Jan									COSM3403653,COSM3403654,COSM3403652	8-Jan	.		ENST00000299687	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000215421	g.chr18:72343319C>A	19904			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=ZN407_HUMAN&rb=1&re=158&var=T115N	NA	getma.org/?cm=var&var=hg19,18,72343319,C,A&fts=all	T115N	--	--	1																																		ZNF407_uc010xfc.1_Missense_Mutation_p.T115N|ZNF407_uc010dqu.1_Missense_Mutation_p.T115N|ZNF407_uc002llu.2_Missense_Mutation_p.T114N	1,1,1	1		benign(0.015)	p.T115N	NM_017757	NP_060227		tolerated(0.09)	1,1,1	ZN407_HUMAN	ZNF407	HGNC	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)			1	401	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	UPI0000F58ED1	115					SNV	ZNF407,missense_variant,p.Thr115Asn,ENST00000299687,NM_017757.2;ZNF407,missense_variant,p.Thr115Asn,ENST00000577538,NM_001146189.1;ZNF407,missense_variant,p.Thr115Asn,ENST00000582337,;ZNF407,missense_variant,p.Thr115Asn,ENST00000309902,NM_001146190.1;	uc002llw.2	c.344C>A	344/7948	1	1			c.344C>A						18	SNP	c.(343-345)ACC>AAC	61	61			ovary(2)	2	Broad	zinc finger protein 407 isoform 1			72343319		0.443	ENSG00000215421	17628	g.chr18:72343319C>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-6.493335	KEEP	5	7	0.583333333	89	90	5	7	0.583333333	27.413623	89	90	0.068182	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF407_uc010xfc.1_Missense_Mutation_p.T115N|ZNF407_uc010dqu.1_Missense_Mutation_p.T115N|ZNF407_uc002llu.2_Missense_Mutation_p.T114N	166	GBM-19-2629-TP	p.T115N	C	GGGAAGGAGACCTTTCTGAGT	NM_017757	NP_060227	72343319	Q9C0G0	ZN407_HUMAN	0		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	401	+	A	A		Esophageal squamous(42;0.131)|Prostate(75;0.173)	Missense_Mutation	115						
ZNF407	0	broad.mit.edu	GRCh37	18	72775660	72775660	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5220-01	TCGA-28-5220-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000299687.5:c.5983G>A	p.Ala1995Thr	p.A1995T	ENST00000299687	NM_017757.2	1995	Gcg/Acg	0			1			A	A/T	uc002llw.2	protein_coding	YES	CCDS45885.1			5983/6747									ovary(2)	2	c.(5983-5985)GCG>ACG				zinc finger protein 407 isoform 1				ENSP00000299687		8-Aug									COSM3403661	8-Aug	.		ENST00000299687	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000215421	g.chr18:72775660G>A	19904			MODERATE		2.215	medium	getma.org/?cm=msa&ty=f&p=ZN407_HUMAN&rb=1871&re=2246&var=A1995T	NA	getma.org/?cm=var&var=hg19,18,72775660,G,A&fts=all	A1995T	--	--	1																																			1	1		probably_damaging(0.996)	p.A1995T	NM_017757	NP_060227		deleterious(0)	1	ZN407_HUMAN	ZNF407	HGNC	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)			8	6040	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	UPI0000F58ED1	1995					SNV	ZNF407,missense_variant,p.Ala1995Thr,ENST00000299687,NM_017757.2;ZNF407,downstream_gene_variant,,ENST00000582214,;ZNF407,non_coding_transcript_exon_variant,,ENST00000579200,;	uc002llw.2	c.5983G>A	5983/7948	1	1			c.5983G>A						18	SNP	c.(5983-5985)GCG>ACG	54	54			ovary(2)	2	Broad	zinc finger protein 407 isoform 1			72775660		0.627	ENSG00000215421	17628	g.chr18:72775660G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							41.24464	KEEP	7	12	-1	24	14	7	12	-1	42.264896	24	14	0.346939	1	0	0	0	0	1	0	0	0	--	--		0	A				226	GBM-28-5220-TP	p.A1995T	G	ATTGCTCTGTGCGGTCACTGA	NM_017757	NP_060227	72775660	Q9C0G0	ZN407_HUMAN	0		BRCA - Breast invasive adenocarcinoma(31;0.184)	8	6040	+	A	A		Esophageal squamous(42;0.131)|Prostate(75;0.173)	Missense_Mutation	1995						
ZNF41	7592	broad.mit.edu	GRCh37	X	47308259	47308259	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0188-01	TCGA-06-0188-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377065.4:c.910A>G	p.Ser304Gly	p.S304G	ENST00000377065	NM_153380.2	304	Agc/Ggc	0			1			C	S/G	uc004dhs.3	protein_coding	YES	CCDS14279.1			910/2340									ovary(3)	3	c.(1036-1038)AGC>GGC			PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF82,hmmpanther:PTHR24377,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	zinc finger protein 41				ENSP00000366265		5-May									COSM3406393	5-May	.		ENST00000377065	Transcript	1			nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000147124	g.chrX:47308259T>C	13107			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=ZNF41_HUMAN&rb=306&re=386&var=S346G	getma.org/pdb.php?prot=ZNF41_HUMAN&from=336&to=356&var=S346G	getma.org/?cm=var&var=hg19,X,47308259,T,C&fts=all	S346G	--	--	1																																		ZNF41_uc004dhu.3_Missense_Mutation_p.S338G|ZNF41_uc004dht.3_Missense_Mutation_p.S218G|ZNF41_uc004dhv.3_Missense_Mutation_p.S314G|ZNF41_uc004dhw.3_Missense_Mutation_p.S306G|ZNF41_uc004dhy.3_Missense_Mutation_p.S304G|ZNF41_uc004dhx.3_Missense_Mutation_p.S304G|ZNF41_uc011mlm.1_Missense_Mutation_p.S218G	1	1		benign(0.004)	p.S346G	NM_153380	NP_700359		deleterious(0.01)	1	ZNF41_HUMAN	ZNF41	HGNC	P51814	ZNF41_HUMAN					4	1103	-		all_lung(315;0.000129)	UPI0000001C0E	346			C2H2-type 2; degenerate.		SNV	ZNF41,missense_variant,p.Ser304Gly,ENST00000377065,NM_153380.2;ZNF41,missense_variant,p.Ser314Gly,ENST00000397050,NM_007130.2;ZNF41,missense_variant,p.Ser304Gly,ENST00000313116,;ZNF41,downstream_gene_variant,,ENST00000432977,;ZNF41,downstream_gene_variant,,ENST00000465311,;	uc004dhs.3	c.1036A>G	1550/4531	4	4			c.1036A>G						23	SNP	c.(1036-1038)AGC>GGC	34	34			ovary(3)	3	Broad	zinc finger protein 41			47308259		0.418	ENSG00000147124	17630	g.chrX:47308259T>C		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							-36.629871	KEEP	1	2	-1	94	89	1	2	-1	6.814005	94	89	0.018072	1	0	0	0	0	1	0	0	0	--	--		0	C			ZNF41_uc004dhu.3_Missense_Mutation_p.S338G|ZNF41_uc004dht.3_Missense_Mutation_p.S218G|ZNF41_uc004dhv.3_Missense_Mutation_p.S314G|ZNF41_uc004dhw.3_Missense_Mutation_p.S306G|ZNF41_uc004dhy.3_Missense_Mutation_p.S304G|ZNF41_uc004dhx.3_Missense_Mutation_p.S304G|ZNF41_uc011mlm.1_Missense_Mutation_p.S218G	41	GBM-06-0188-TP	p.S346G	T	ACTTTGTTGCTTTTGTCACAT	NM_153380	NP_700359	47308259	P51814	ZNF41_HUMAN	0			4	1103	-	C	C		all_lung(315;0.000129)	Missense_Mutation	346			C2H2-type 2; degenerate.			
ZNF41	0	broad.mit.edu	GRCh37	X	47307679	47307679	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01	TCGA-14-1450-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000377065.4:c.1490G>A	p.Cys497Tyr	p.C497Y	ENST00000377065	NM_153380.2	497	tGt/tAt	0			1			T	C/Y	uc004dhs.3	protein_coding	YES	CCDS14279.1			1490/2340									ovary(3)	3	c.(1615-1617)TGT>TAT			PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF82,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 41				ENSP00000366265		5-May									COSM3406392	5-May	.		ENST00000377065	Transcript	1			nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000147124	g.chrX:47307679C>T	13107			MODERATE		3.79	high	getma.org/?cm=msa&ty=f&p=ZNF41_HUMAN&rb=504&re=568&var=C539Y	getma.org/pdb.php?prot=ZNF41_HUMAN&from=524&to=548&var=C539Y	getma.org/?cm=var&var=hg19,X,47307679,C,T&fts=all	C539Y	--	--	1																																		ZNF41_uc004dhu.3_Missense_Mutation_p.C531Y|ZNF41_uc004dht.3_Missense_Mutation_p.C411Y|ZNF41_uc004dhv.3_Missense_Mutation_p.C507Y|ZNF41_uc004dhw.3_Missense_Mutation_p.C499Y|ZNF41_uc004dhy.3_Missense_Mutation_p.C497Y|ZNF41_uc004dhx.3_Missense_Mutation_p.C497Y|ZNF41_uc011mlm.1_Missense_Mutation_p.C411Y	1	1		probably_damaging(1)	p.C539Y	NM_153380	NP_700359		deleterious(0)	1	ZNF41_HUMAN	ZNF41	HGNC	P51814	ZNF41_HUMAN					4	1683	-		all_lung(315;0.000129)	UPI0000001C0E	539			C2H2-type 9.		SNV	ZNF41,missense_variant,p.Cys497Tyr,ENST00000377065,NM_153380.2;ZNF41,missense_variant,p.Cys507Tyr,ENST00000397050,NM_007130.2;ZNF41,missense_variant,p.Cys497Tyr,ENST00000313116,;ZNF41,downstream_gene_variant,,ENST00000432977,;ZNF41,downstream_gene_variant,,ENST00000465311,;	uc004dhs.3	c.1616G>A	2130/4531	2	2			c.1616G>A						23	SNP	c.(1615-1617)TGT>TAT	48	48			ovary(3)	3	Broad	zinc finger protein 41			47307679		0.428	ENSG00000147124	17630	g.chrX:47307679C>T		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							56.592244	KEEP	16	17	-1	69	51	16	17	-1	66.9347	69	51	0.213235	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF41_uc004dhu.3_Missense_Mutation_p.C531Y|ZNF41_uc004dht.3_Missense_Mutation_p.C411Y|ZNF41_uc004dhv.3_Missense_Mutation_p.C507Y|ZNF41_uc004dhw.3_Missense_Mutation_p.C499Y|ZNF41_uc004dhy.3_Missense_Mutation_p.C497Y|ZNF41_uc004dhx.3_Missense_Mutation_p.C497Y|ZNF41_uc011mlm.1_Missense_Mutation_p.C411Y	145	GBM-14-1450-TP	p.C539Y	C	ACATTCTGTACATATATAGGG	NM_153380	NP_700359	47307679	P51814	ZNF41_HUMAN	0			4	1683	-	T	T		all_lung(315;0.000129)	Missense_Mutation	539			C2H2-type 9.			
ZNF410	57862	broad.mit.edu	GRCh37	14	74360573	74360573	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-2557-01	TCGA-06-2557-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000442160.3:c.107T>C	p.Ile36Thr	p.I36T	ENST00000442160	NM_001242924.1	36	aTt/aCt	0			1			C	I/T	uc001xoz.1	protein_coding		CCDS9821.1			107/1437									skin(1)	1	c.(106-108)ATT>ACT			hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF363	zinc finger protein 410				ENSP00000451763		12-Mar									COSM3401461	12-Mar	.		ENST00000555044	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000119725	g.chr14:74360573T>C	20144			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=ZN410_HUMAN&rb=1&re=179&var=I36T	NA	getma.org/?cm=var&var=hg19,14,74360573,T,C&fts=all	I36T	--	--	1																																		ZNF410_uc001xoy.1_RNA|ZNF410_uc010ary.1_RNA|ZNF410_uc010tuf.1_RNA|ZNF410_uc010tug.1_5'UTR|ZNF410_uc010tuh.1_Missense_Mutation_p.I36T|ZNF410_uc010tui.1_RNA|ZNF410_uc010arz.1_Missense_Mutation_p.I36T|ZNF410_uc001xpa.1_5'UTR|ZNF410_uc001xpb.1_Missense_Mutation_p.I36T|ZNF410_uc001xpc.1_5'UTR	1			possibly_damaging(0.776)	p.I36T	NM_021188	NP_067011		deleterious_low_confidence(0.05)	1	ZN410_HUMAN	ZNF410	HGNC	Q86VK4	ZN410_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00369)	J3KNQ6_HUMAN,G3V565_HUMAN,G3V4W2_HUMAN,G3V4H7_HUMAN,G3V4E6_HUMAN,G3V3W2_HUMAN,G3V398_HUMAN,B4DPW2_HUMAN,B4DPE9_HUMAN		3	289	+			UPI000007240C	36					SNV	ZNF410,missense_variant,p.Ile36Thr,ENST00000555044,NM_021188.2,NM_001242928.1;ZNF410,missense_variant,p.Ile36Thr,ENST00000324593,NM_001242926.1;ZNF410,missense_variant,p.Ile36Thr,ENST00000442160,NM_001242924.1;ZNF410,missense_variant,p.Ile36Thr,ENST00000540593,NM_001242927.1;ZNF410,missense_variant,p.Ile36Thr,ENST00000556160,;ZNF410,missense_variant,p.Ile36Thr,ENST00000556659,;ZNF410,missense_variant,p.Ile43Thr,ENST00000557495,;ZNF410,missense_variant,p.Ile36Thr,ENST00000554797,;ZNF410,5_prime_UTR_variant,,ENST00000334521,;ZNF410,5_prime_UTR_variant,,ENST00000556797,;ZNF410,5_prime_UTR_variant,,ENST00000557363,;ZNF410,5_prime_UTR_variant,,ENST00000555730,;RP5-1021I20.5,downstream_gene_variant,,ENST00000554009,;ZNF410,non_coding_transcript_exon_variant,,ENST00000412490,;ZNF410,non_coding_transcript_exon_variant,,ENST00000541357,;ZNF410,non_coding_transcript_exon_variant,,ENST00000555602,;ZNF410,missense_variant,p.Ile36Thr,ENST00000398139,;ZNF410,missense_variant,p.Ile36Thr,ENST00000556396,;ZNF410,missense_variant,p.Ile36Thr,ENST00000554582,;RP5-1021I20.4,3_prime_UTR_variant,,ENST00000556551,;	uc001xoz.1	c.107T>C	301/2601	4	4			c.107T>C						14	SNP	c.(106-108)ATT>ACT	48	48			skin(1)	1	Broad	zinc finger protein 410			74360573		0.443	ENSG00000119725	17631	g.chr14:74360573T>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-39.930115	KEEP	4	2	-1	104	121	4	2	-1	14.312255	104	121	0.027273	1	0	0	0	0	1	0	0	0	--	--		0	C			ZNF410_uc001xoy.1_RNA|ZNF410_uc010ary.1_RNA|ZNF410_uc010tuf.1_RNA|ZNF410_uc010tug.1_5'UTR|ZNF410_uc010tuh.1_Missense_Mutation_p.I36T|ZNF410_uc010tui.1_RNA|ZNF410_uc010arz.1_Missense_Mutation_p.I36T|ZNF410_uc001xpa.1_5'UTR|ZNF410_uc001xpb.1_Missense_Mutation_p.I36T|ZNF410_uc001xpc.1_5'UTR	81	GBM-06-2557-TP	p.I36T	T	GCTAAAGATATTACTTGCTTG	NM_021188	NP_067011	74360573	Q86VK4	ZN410_HUMAN	0		BRCA - Breast invasive adenocarcinoma(234;0.00369)	3	289	+	C	C			Missense_Mutation	36						
ZNF416	0	broad.mit.edu	GRCh37	19	58084494	58084494	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1977-01	TCGA-32-1977-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000196489.3:c.778C>T	p.Leu260=	p.L260=	ENST00000196489	NM_017879.1	260	Ctg/Ttg	0			1			A	L	uc002qpf.2	protein_coding	YES	CCDS12954.1			778/1785										0	c.(778-780)CTG>TTG			Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF15,Superfamily_domains:SSF57667	zinc finger protein 416				ENSP00000196489		4-Apr									COSM3404711	4-Apr	.		ENST00000196489	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000083817	g.chr19:58084494G>A	20645			LOW								--	--	1																																		ZNF547_uc002qpm.3_Intron	1	1			p.L260L	NM_017879	NP_060349			1	ZN416_HUMAN	ZNF416	HGNC	Q9BWM5	ZN416_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)			4	949	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	UPI000007314D	260			C2H2-type 1; degenerate.		SNV	ZNF416,synonymous_variant,p.=,ENST00000196489,NM_017879.1;	uc002qpf.2	c.778C>T	1001/2561	2	2			c.778C>T						19	SNP	c.(778-780)CTG>TTG	44	44				0	Broad	zinc finger protein 416			58084494		0.458	ENSG00000083817	17634	g.chr19:58084494G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-96.701541	KEEP	2	3	-1	166	238	2	3	-1	7.915442	166	238	0.012953	1	0	0	0	0	0	0	1	0	--	--		0	A			ZNF547_uc002qpm.3_Intron	229	GBM-32-1977-TP	p.L260L	G	ACTCTTTGCAGCTGAACAAGG	NM_017879	NP_060349	58084494	Q9BWM5	ZN416_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	4	949	-	A	A		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	Silent	260			C2H2-type 1; degenerate.			
ZNF417	147687	broad.mit.edu	GRCh37	19	58423432	58423432	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0122-01	TCGA-06-0122-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000312026.5:c.159G>A	p.Ser53=	p.S53=	ENST00000312026	NM_152475.2	53	tcG/tcA	0		T:0	1	T:0		T	S	uc002qqq.2	protein_coding	YES	CCDS12965.1			159/1728										0	c.(157-159)TCG>TCA			Superfamily_domains:0044637,SMART_domains:SM00349,Pfam_domain:PF01352,hmmpanther:PTHR24402:SF22,hmmpanther:PTHR24402,PROSITE_profiles:PS50805	zinc finger protein 417		T:0.001		ENSP00000311319	T:0	3-Feb	8.24E-06			0.000122					rs202027959,COSM1002533	3-Feb	.		ENST00000312026	Transcript		T:0.0002	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000173480	g.chr19:58423432C>T	20646			LOW								--	--	1																																		ZNF417_uc010yhm.1_Silent_p.S10S|ZNF417_uc002qqr.2_Silent_p.S52S	0,1	1			p.S53S	NM_152475	NP_689688	T:0		0,1	ZN417_HUMAN	ZNF417	HGNC	Q8TAU3	ZN417_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)	M0R2A6_HUMAN,M0R178_HUMAN,M0R0V5_HUMAN,M0R0M6_HUMAN,M0R082_HUMAN,M0QXF5_HUMAN,B4DEU1_HUMAN		2	358	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	UPI000013F249	53			KRAB.		SNV	ZNF417,synonymous_variant,p.=,ENST00000312026,NM_152475.2;ZNF417,synonymous_variant,p.=,ENST00000595559,;ZNF417,synonymous_variant,p.=,ENST00000598526,;ZNF417,synonymous_variant,p.=,ENST00000597515,;ZNF417,synonymous_variant,p.=,ENST00000599251,;ZNF417,synonymous_variant,p.=,ENST00000598629,;ZNF417,synonymous_variant,p.=,ENST00000594396,;ZNF417,5_prime_UTR_variant,,ENST00000536263,;CTD-2583A14.9,synonymous_variant,p.=,ENST00000602124,;	uc002qqq.2	c.159G>A	324/3597	2	2			c.159G>A						19	SNP	c.(157-159)TCG>TCA	32	32				0	Broad	zinc finger protein 417			58423432		0.498	ENSG00000173480	17635	g.chr19:58423432C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							20.951135	KEEP	10	7	-1	60	70	10	7	-1	28.76213	60	70	0.164384	1	0	0	0	0	0	0	1	0	--	--		0	T			ZNF417_uc010yhm.1_Silent_p.S10S|ZNF417_uc002qqr.2_Silent_p.S52S	10	GBM-06-0122-TP	p.S53S	C	ACTTACCCAGCGAGGATATGA	NM_152475	NP_689688	58423432	Q8TAU3	ZN417_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)	2	358	-	T	T		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	Silent	53			KRAB.			
ZNF419	79744	broad.mit.edu	GRCh37	19	58004984	58004984	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0157-01	TCGA-06-0157-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000424930.2:c.1062C>T	p.Ser354=	p.S354=	ENST00000424930	NM_024691.3	354	agC/agT	0			1			T	S	uc002qov.2	protein_coding		CCDS54326.1			1059/1533										0	c.(1057-1059)AGC>AGT			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF195,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 419 isoform 2				ENSP00000221735		5-May									COSM2150082,COSM2150083,COSM2150081	5-May	.		ENST00000221735	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000105136	g.chr19:58004984C>T	20648			LOW								--	--	1																																		ZNF547_uc002qpm.3_Intron|ZNF419_uc010ety.1_Silent_p.S354S|ZNF419_uc010etz.1_Silent_p.S341S|ZNF419_uc010eua.1_Silent_p.S340S|ZNF419_uc002qow.2_Silent_p.S321S|ZNF419_uc010eub.1_Silent_p.S308S|ZNF419_uc010euc.1_Silent_p.S307S	1,1,1				p.S353S	NM_024691	NP_078967			1,1,1	ZN419_HUMAN	ZNF419	HGNC	Q96HQ0	ZN419_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)			5	1299	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)	UPI000040C68A	353			C2H2-type 6.		SNV	ZNF419,synonymous_variant,p.=,ENST00000424930,NM_024691.3,NM_001098491.1;ZNF419,synonymous_variant,p.=,ENST00000426954,NM_001098492.1,NM_001098493.1;ZNF419,synonymous_variant,p.=,ENST00000221735,;ZNF419,synonymous_variant,p.=,ENST00000347466,NM_001098494.1;ZNF419,synonymous_variant,p.=,ENST00000415379,NM_001098496.1,NM_001098495.1;ZNF419,synonymous_variant,p.=,ENST00000442920,;ZNF419,synonymous_variant,p.=,ENST00000354197,;ZNF419,downstream_gene_variant,,ENST00000518999,;ZNF419,downstream_gene_variant,,ENST00000521137,;ZNF419,downstream_gene_variant,,ENST00000523882,;ZNF419,downstream_gene_variant,,ENST00000523312,;ZNF419,downstream_gene_variant,,ENST00000520540,;ZNF419,downstream_gene_variant,,ENST00000519310,;ZNF419,downstream_gene_variant,,ENST00000521754,;ZNF419,downstream_gene_variant,,ENST00000523138,;ZNF419,non_coding_transcript_exon_variant,,ENST00000522346,;ZNF419,non_coding_transcript_exon_variant,,ENST00000523439,;AC003005.4,intron_variant,,ENST00000601674,;AC003005.4,intron_variant,,ENST00000599674,;	uc002qov.2	c.1059C>T	1245/2309	2	2			c.1059C>T						19	SNP	c.(1057-1059)AGC>AGT	39	39				0	Broad	zinc finger protein 419 isoform 2			58004984		0.413	ENSG00000105136	17637	g.chr19:58004984C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							124.686816	KEEP	34	25	-1	70	84	34	25	-1	133.111755	70	84	0.272222	1	0	0	0	0	0	0	1	0	--	--		0	T			ZNF547_uc002qpm.3_Intron|ZNF419_uc010ety.1_Silent_p.S354S|ZNF419_uc010etz.1_Silent_p.S341S|ZNF419_uc010eua.1_Silent_p.S340S|ZNF419_uc002qow.2_Silent_p.S321S|ZNF419_uc010eub.1_Silent_p.S308S|ZNF419_uc010euc.1_Silent_p.S307S	28	GBM-06-0157-TP	p.S353S	C	AATTCTATAGCCACAAGTCCA	NM_024691	NP_078967	58004984	Q96HQ0	ZN419_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)	5	1299	+	T	T		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)	Silent	353			C2H2-type 6.			
ZNF423	23090		GRCh37	16	49557601	49557601	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000561648.1:c.3759G>A	p.Gly1253=	p.G1253=	ENST00000561648	NM_015069.3	1253	ggG/ggA	0																																																																																																																																																																																																																																												
ZNF425	155054	broad.mit.edu	GRCh37	7	148815402	148815402	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-5858-01	TCGA-06-5858-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000378061.2:c.57G>A	p.Ser19=	p.S19=	ENST00000378061	NM_001001661.2	19	tcG/tcA	0			1			T	S	uc003wfj.2	protein_coding	YES	CCDS34773.1			57/2259									breast(2)|ovary(1)	3	c.(55-57)TCG>TCA			PROSITE_profiles:PS50805,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF120,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	zinc finger protein 425				ENSP00000367300		4-Feb	8.24E-06					1.50E-05			rs560790723,COSM289049	4-Feb	.		ENST00000378061	Transcript			negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	ENSG00000204947	g.chr7:148815402C>T	20690			LOW								--	--	1																																			0,1	1			p.S19S	NM_001001661	NP_001001661			0,1	ZN425_HUMAN	ZNF425	HGNC	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)				2	130	-	Melanoma(164;0.15)		UPI00001B64B9	19			KRAB.		SNV	ZNF425,synonymous_variant,p.=,ENST00000378061,NM_001001661.2;ZNF425,synonymous_variant,p.=,ENST00000483014,;ZNF425,upstream_gene_variant,,ENST00000484196,;	uc003wfj.2	c.57G>A	190/3220	2	2			c.57G>A						7	SNP	c.(55-57)TCG>TCA	17	17			breast(2)|ovary(1)	3	Broad	zinc finger protein 425			148815402		0.393	ENSG00000204947	17640	g.chr7:148815402C>T	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding							-55.746614	KEEP	7	8	-1	169	227	7	8	-1	29.442534	169	227	0.03794	1	0	0	0	0	0	0	1	0	--	--		0	T				102	GBM-06-5858-TP	p.S19S	C	ACTCTTGTTCCGAAAAATATA	NM_001001661	NP_001001661	148815402	Q6IV72	ZN425_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		2	130	-	T	T	Melanoma(164;0.15)		Silent	19			KRAB.			
ZNF430	80264	broad.mit.edu	GRCh37	19	21240178	21240178	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0221-01	TCGA-06-0221-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000261560.5:c.1064A>G	p.Asn355Ser	p.N355S	ENST00000261560	NM_025189.3	355	aAc/aGc	0			1			G	N/S	uc002npj.2	protein_coding	YES	CCDS32978.1			1064/1713									skin(2)	2	c.(1063-1065)AAC>AGC			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF41,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 430				ENSP00000261560		5-May									COSM710915	5-May	.		ENST00000261560	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000118620	g.chr19:21240178A>G	20808			MODERATE		-1.51	neutral	getma.org/?cm=msa&ty=f&p=ZN430_HUMAN&rb=311&re=376&var=N355S	getma.org/pdb.php?prot=ZN430_HUMAN&from=331&to=356&var=N355S	getma.org/?cm=var&var=hg19,19,21240178,A,G&fts=all	N355S	--	--	1																																		ZNF430_uc002npk.2_Missense_Mutation_p.N354S	1	1		benign(0.088)	p.N355S	NM_025189	NP_079465		tolerated(0.35)	1	ZN430_HUMAN	ZNF430	HGNC	Q9H8G1	ZN430_HUMAN			Q69YQ2_HUMAN,Q2NKJ9_HUMAN		5	1174	+			UPI000020389E	355			C2H2-type 6.		SNV	ZNF430,missense_variant,p.Asn355Ser,ENST00000261560,NM_025189.3,NM_001172671.1;ZNF430,downstream_gene_variant,,ENST00000599548,;ZNF430,upstream_gene_variant,,ENST00000597922,;AC012627.1,downstream_gene_variant,,ENST00000578233,;	uc002npj.2	c.1064A>G	1245/3923	3	3			c.1064A>G						19	SNP	c.(1063-1065)AAC>AGC	62	62			skin(2)	2	Broad	zinc finger protein 430			21240178		0.388	ENSG00000118620	17645	g.chr19:21240178A>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-54.88534	KEEP	2	4	-1	127	137	2	4	-1	6.797551	127	137	0.013158	1	0	0	0	0	1	0	0	0	--	--		0	G			ZNF430_uc002npk.2_Missense_Mutation_p.N354S	53	GBM-06-0221-TP	p.N355S	A	AAAGCTTTTAACCAATCCTCA	NM_025189	NP_079465	21240178	Q9H8G1	ZN430_HUMAN	0			5	1174	+	G	G			Missense_Mutation	355			C2H2-type 6.			
ZNF433	163059		GRCh37	19	12126556	12126556	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000344980.6:c.1126del	p.Tyr376IlefsTer295	p.Y376Ifs*295	ENST00000344980	NM_001080411.1	376	Tat/at	0																																																																																																																																																																																																																																												
ZNF442	79973	broad.mit.edu	GRCh37	19	12461021	12461021	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01	TCGA-06-1804-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000242804.4:c.1378C>T	p.Pro460Ser	p.P460S	ENST00000242804	NM_030824.2	460	Ccc/Tcc	0			1			A	P/S	uc002mtr.1	protein_coding	YES	CCDS12271.1			1378/1884									large_intestine(2)|breast(1)|kidney(1)	4	c.(1378-1380)CCC>TCC			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF6,Superfamily_domains:SSF57667	zinc finger protein 442				ENSP00000242804		6-Jun									COSM2152489	6-Jun	.		ENST00000242804	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000198342	g.chr19:12461021G>A	20877			MODERATE		2.11	medium	getma.org/?cm=msa&ty=f&p=ZN442_HUMAN&rb=427&re=490&var=P460S	getma.org/pdb.php?prot=ZN442_HUMAN&from=447&to=470&var=P460S	getma.org/?cm=var&var=hg19,19,12461021,G,A&fts=all	P460S	--	--	1																																		ZNF442_uc010xmk.1_Missense_Mutation_p.P391S	1	1		possibly_damaging(0.468)	p.P460S	NM_030824	NP_110451		deleterious(0.02)	1	ZN442_HUMAN	ZNF442	HGNC	Q9H7R0	ZN442_HUMAN			C9JC15_HUMAN,B4DJ48_HUMAN		6	1989	-			UPI000006D14F	460					SNV	ZNF442,missense_variant,p.Pro460Ser,ENST00000242804,NM_030824.2;ZNF442,missense_variant,p.Pro391Ser,ENST00000438182,;ZNF442,downstream_gene_variant,,ENST00000424168,;CTD-3105H18.13,upstream_gene_variant,,ENST00000563695,;ZNF442,downstream_gene_variant,,ENST00000462995,;	uc002mtr.1	c.1378C>T	1961/2797	1	1			c.1378C>T						19	SNP	c.(1378-1380)CCC>TCC	56	56			large_intestine(2)|breast(1)|kidney(1)	4	Broad	zinc finger protein 442			12461021		0.378	ENSG00000198342	17656	g.chr19:12461021G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							79.110442	KEEP	15	12	-1	29	14	15	12	-1	79.452086	29	14	0.421875	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF442_uc010xmk.1_Missense_Mutation_p.P391S	79	GBM-06-1804-TP	p.P460S	G	CATTTATAGGGTTTCTCTCCA	NM_030824	NP_110451	12461021	Q9H7R0	ZN442_HUMAN	0			6	1989	-	A	A			Missense_Mutation	460						
ZNF445	0	broad.mit.edu	GRCh37	3	44488333	44488333	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-14-1034-01	TCGA-14-1034-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396077.2:c.2830C>G	p.Leu944Val	p.L944V	ENST00000396077	NM_181489.5	944	Cta/Gta	0			1			C	L/V	uc003cnf.2	protein_coding		CCDS2713.1			2830/3096									ovary(1)	1	c.(2830-2832)CTA>GTA			hmmpanther:PTHR24385,hmmpanther:PTHR24385:SF48	zinc finger protein 445				ENSP00000379387		8-Aug									COSM2155217	8-Aug	.		ENST00000396077	Transcript			viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000185219	g.chr3:44488333G>C	21018			MODERATE		0.6	neutral	getma.org/?cm=msa&ty=f&p=ZN445_HUMAN&rb=919&re=991&var=L944V	NA	getma.org/?cm=var&var=hg19,3,44488333,G,C&fts=all	L944V	--	--	1																																		ZNF445_uc011azv.1_Missense_Mutation_p.L932V|ZNF445_uc011azw.1_Missense_Mutation_p.L944V	1			benign(0.364)	p.L944V	NM_181489	NP_852466		tolerated(0.21)	1	ZN445_HUMAN	ZNF445	HGNC	P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	B7ZKX2_HUMAN		8	3178	-			UPI000019AD12	944					SNV	ZNF445,missense_variant,p.Leu944Val,ENST00000425708,;ZNF445,missense_variant,p.Leu944Val,ENST00000396077,NM_181489.5;ZNF445,downstream_gene_variant,,ENST00000460529,;	uc003cnf.2	c.2830C>G	3178/9105	4	4			c.2830C>G						3	SNP	c.(2830-2832)CTA>GTA	47	47			ovary(1)	1	Broad	zinc finger protein 445			44488333		0.522	ENSG00000185219	17658	g.chr3:44488333G>C	viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							145.418498	KEEP	27	21	-1	62	78	27	21	-1	154.436314	62	78	0.265193	1	0	0	0	0	1	0	0	0	--	--		0	C			ZNF445_uc011azv.1_Missense_Mutation_p.L932V|ZNF445_uc011azw.1_Missense_Mutation_p.L944V	142	GBM-14-1034-TP	p.L944V	G	CTTGGTTTTAGCTTCTGTAAT	NM_181489	NP_852466	44488333	P59923	ZN445_HUMAN	0		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	8	3178	-	C	C			Missense_Mutation	944						
ZNF449	203523		GRCh37	X	134494349	134494349	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000339249.4:c.905C>G	p.Ser302Cys	p.S302C	ENST00000339249	NM_152695.5	302	tCc/tGc	0																																																																																																																																																																																																																																												
ZNF449	203523		GRCh37	X	134494411	134494411	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000339249.4:c.967C>A	p.His323Asn	p.H323N	ENST00000339249	NM_152695.5	323	Cac/Aac	0																																																																																																																																																																																																																																												
ZNF45	7596	broad.mit.edu	GRCh37	19	44417709	44417709	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0152-01	TCGA-06-0152-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269973.5:c.1879del	p.Leu627PhefsTer67	p.L627Ffs*67	ENST00000269973	NM_003425.3	627	Ctt/tt	0			1			-	L/X	uc002oxu.1	protein_coding	YES	CCDS12632.1			1879/2049									ovary(1)	1	c.(1879-1881)CTTfs			Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24377:SF174,hmmpanther:PTHR24377,PROSITE_profiles:PS50157	zinc finger protein 45				ENSP00000269973		10-Oct									COSM2149864	10-Oct	.		ENST00000269973	Transcript			multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000124459	g.chr19:44417709delG	13111			HIGH								--	--	1																																		ZNF45_uc002oxw.1_Frame_Shift_Del_p.L627fs|ZNF45_uc002oxv.1_Frame_Shift_Del_p.L627fs	1	1			p.L627fs	NM_003425	NP_003416			1	ZNF45_HUMAN	ZNF45	HGNC	Q02386	ZNF45_HUMAN			K7EPV5_HUMAN		4	1978	-			UPI0000001C64	627			C2H2-type 17.		deletion	ZNF45,frameshift_variant,p.Leu627PhefsTer67,ENST00000269973,NM_003425.3;ZNF45,frameshift_variant,p.Leu627PhefsTer67,ENST00000589703,;ZNF45,downstream_gene_variant,,ENST00000588140,;RP11-15A1.2,intron_variant,,ENST00000586247,;	uc002oxu.1	c.1879delC	2970/3898	5	5			c.1879delC						19	DEL	c.(1879-1881)CTTfs	43	43			ovary(1)	1	Broad	zinc finger protein 45			44417709		0.488	ENSG00000124459	17661	g.chr19:44417709delG	multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding																				0.2	1	1	0	1	0	0	0	0	0	--	--		0	-			ZNF45_uc002oxw.1_Frame_Shift_Del_p.L627fs|ZNF45_uc002oxv.1_Frame_Shift_Del_p.L627fs	25	GBM-06-0152-TP	p.L627fs	G	TGGGCTTGAAGGTATGAGCTC	NM_003425	NP_003416	44417709	Q02386	ZNF45_HUMAN	0			4	1978	-	-	-			Frame_Shift_Del	627			C2H2-type 17.			
ZNF451	26036	broad.mit.edu	GRCh37	6	56963890	56963890	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0939-01	TCGA-06-0939-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370706.4:c.137T>C	p.Ile46Thr	p.I46T	ENST00000370706	NM_001031623.2	46	aTt/aCt	0			1			C	I/T	uc003pdm.1	protein_coding	YES	CCDS43477.1			137/3186									ovary(1)|pancreas(1)	2	c.(136-138)ATT>ACT			hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF436	zinc finger protein 451 isoform 1				ENSP00000359740		15-Mar									COSM2152393,COSM2152392,COSM2152394	15-Mar	.		ENST00000370706	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	ENSG00000112200	g.chr6:56963890T>C	21091			MODERATE		2.175	medium	getma.org/?cm=msa&ty=f&p=ZN451_HUMAN&rb=1&re=200&var=I46T	NA	getma.org/?cm=var&var=hg19,6,56963890,T,C&fts=all	I46T	--	--	1																																		ZNF451_uc003pdl.2_Missense_Mutation_p.I46T|ZNF451_uc003pdn.1_Missense_Mutation_p.I46T|ZNF451_uc011dxn.1_Missense_Mutation_p.I46T|ZNF451_uc003pdk.1_Missense_Mutation_p.I46T|ZNF451_uc003pdo.2_RNA|uc003pdp.2_5'Flank	1,1,1	1		probably_damaging(0.985)	p.I46T	NM_001031623	NP_001026794		deleterious(0)	1,1,1	ZN451_HUMAN	ZNF451	HGNC	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		Q96JY2_HUMAN,D6RAV4_HUMAN		3	361	+	Lung NSC(77;0.145)		UPI000004A571	46					SNV	ZNF451,missense_variant,p.Ile46Thr,ENST00000370708,NM_001257273.1;ZNF451,missense_variant,p.Ile46Thr,ENST00000370706,NM_001031623.2;ZNF451,missense_variant,p.Ile46Thr,ENST00000357489,NM_015555.2;ZNF451,missense_variant,p.Ile46Thr,ENST00000491832,;ZNF451,missense_variant,p.Ile18Thr,ENST00000510483,;ZNF451,missense_variant,p.Ile18Thr,ENST00000508603,;ZNF451,missense_variant,p.Ile46Thr,ENST00000370702,;ZNF451,missense_variant,p.Ile46Thr,ENST00000370710,;ZNF451,5_prime_UTR_variant,,ENST00000515290,;ZNF451,non_coding_transcript_exon_variant,,ENST00000510989,;ZNF451,non_coding_transcript_exon_variant,,ENST00000509071,;ZNF451,upstream_gene_variant,,ENST00000509251,;ZNF451,missense_variant,p.Ile46Thr,ENST00000370711,;ZNF451,synonymous_variant,p.=,ENST00000502749,;ZNF451,non_coding_transcript_exon_variant,,ENST00000444273,;ZNF451,intron_variant,,ENST00000504603,;	uc003pdm.1	c.137T>C	381/5268	3	3			c.137T>C						6	SNP	c.(136-138)ATT>ACT	1	1			ovary(1)|pancreas(1)	2	Broad	zinc finger protein 451 isoform 1			56963890		0.338	ENSG00000112200	17662	g.chr6:56963890T>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding							85.143414	KEEP	10	31	-1	46	62	10	31	-1	91.161374	46	62	0.254545	1	0	0	0	0	1	0	0	0	--	--		0	C			ZNF451_uc003pdl.2_Missense_Mutation_p.I46T|ZNF451_uc003pdn.1_Missense_Mutation_p.I46T|ZNF451_uc011dxn.1_Missense_Mutation_p.I46T|ZNF451_uc003pdk.1_Missense_Mutation_p.I46T|ZNF451_uc003pdo.2_RNA|uc003pdp.2_5'Flank	78	GBM-06-0939-TP	p.I46T	T	CTTGAATACATTGATCTGGTC	NM_001031623	NP_001026794	56963890	Q9Y4E5	ZN451_HUMAN	0	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		3	361	+	C	C	Lung NSC(77;0.145)		Missense_Mutation	46						
ZNF462	0	broad.mit.edu	GRCh37	9	109746495	109746495	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000277225.5:c.6861C>T	p.Cys2287=	p.C2287=	ENST00000277225		2287	tgC/tgT	0			1			T	C	uc004bcz.2	protein_coding	YES	CCDS35096.1			6861/7521									ovary(5)	5	c.(6859-6861)TGC>TGT			hmmpanther:PTHR24385:SF52,hmmpanther:PTHR24385	zinc finger protein 462				ENSP00000277225		13-Oct									COSM486875,COSM1645929	13-Oct	.		ENST00000277225	Transcript			transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000148143	g.chr9:109746495C>T	21684			LOW								--	--	1																																		ZNF462_uc010mto.2_Silent_p.C2196C|ZNF462_uc004bda.2_Silent_p.C2195C|ZNF462_uc011lvz.1_Silent_p.C244C|uc004bdc.1_Intron	1,1	1			p.C2287C	NM_021224	NP_067047			1,1	ZN462_HUMAN	ZNF462	HGNC	Q96JM2	ZN462_HUMAN			U3KQ68_HUMAN,F5H0Z0_HUMAN		10	7150	+			UPI0000470106	2287					SNV	ZNF462,synonymous_variant,p.=,ENST00000277225,;ZNF462,synonymous_variant,p.=,ENST00000457913,NM_021224.4;ZNF462,synonymous_variant,p.=,ENST00000374686,;ZNF462,synonymous_variant,p.=,ENST00000441147,;ZNF462,synonymous_variant,p.=,ENST00000542028,;RP11-508N12.2,intron_variant,,ENST00000439901,;ZNF462,non_coding_transcript_exon_variant,,ENST00000482115,;RP11-508N12.3,upstream_gene_variant,,ENST00000444758,;	uc004bcz.2	c.6861C>T	7150/10414	2	2			c.6861C>T						9	SNP	c.(6859-6861)TGC>TGT	17	17			ovary(5)	5	Broad	zinc finger protein 462			109746495		0.423	ENSG00000148143	17666	g.chr9:109746495C>T	transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-25.089764	KEEP	3	3	-1	82	67	3	3	-1	6.836898	82	67	0.030303	1	0	0	0	0	0	0	1	0	--	--		0	T			ZNF462_uc010mto.2_Silent_p.C2196C|ZNF462_uc004bda.2_Silent_p.C2195C|ZNF462_uc011lvz.1_Silent_p.C244C|uc004bdc.1_Intron	139	GBM-14-0817-TP	p.C2287C	C	TTGAAGTTTGCCGGTCCAAAC	NM_021224	NP_067047	109746495	Q96JM2	ZN462_HUMAN	0			10	7150	+	T	T			Silent	2287						
ZNF462	0	broad.mit.edu	GRCh37	9	109687562	109687562	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-27-1838-01	TCGA-27-1838-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000277225.5:c.1369C>G	p.His457Asp	p.H457D	ENST00000277225		457	Cac/Gac	0			1			G	H/D	uc004bcz.2	protein_coding	YES	CCDS35096.1			1369/7521									ovary(5)	5	c.(1369-1371)CAC>GAC			Pfam_domain:PF13909,SMART_domains:SM00355	zinc finger protein 462				ENSP00000277225		13-Mar									COSM3413223,COSM3413224	13-Mar	.		ENST00000277225	Transcript			transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000148143	g.chr9:109687562C>G	21684			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=ZN462_HUMAN&rb=419&re=483&var=H457D	NA	getma.org/?cm=var&var=hg19,9,109687562,C,G&fts=all	H457D	--	--	1																																		ZNF462_uc010mto.2_Missense_Mutation_p.H305D|ZNF462_uc004bda.2_Missense_Mutation_p.H305D	1,1	1		possibly_damaging(0.537)	p.H457D	NM_021224	NP_067047			1,1	ZN462_HUMAN	ZNF462	HGNC	Q96JM2	ZN462_HUMAN			U3KQ68_HUMAN,F5H0Z0_HUMAN		3	1658	+			UPI0000470106	457			C2H2-type 4.		SNV	ZNF462,missense_variant,p.His457Asp,ENST00000277225,;ZNF462,missense_variant,p.His457Asp,ENST00000457913,NM_021224.4;ZNF462,intron_variant,,ENST00000472574,;ZNF462,upstream_gene_variant,,ENST00000374686,;ZNF462,upstream_gene_variant,,ENST00000441147,;RP11-508N12.4,downstream_gene_variant,,ENST00000451160,;ZNF462,upstream_gene_variant,,ENST00000497489,;ZNF462,upstream_gene_variant,,ENST00000480607,;	uc004bcz.2	c.1369C>G	1658/10414	3	3			c.1369C>G						9	SNP	c.(1369-1371)CAC>GAC	4	4			ovary(5)	5	Broad	zinc finger protein 462			109687562		0.438	ENSG00000148143	17666	g.chr9:109687562C>G	transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							263.886643	KEEP	52	33	-1	90	109	52	33	-1	272.327278	90	109	0.30888	1	0	0	0	0	1	0	0	0	--	--		0	G			ZNF462_uc010mto.2_Missense_Mutation_p.H305D|ZNF462_uc004bda.2_Missense_Mutation_p.H305D	197	GBM-27-1838-TP	p.H457D	C	CATCTCTCGTCACATAGAAAA	NM_021224	NP_067047	109687562	Q96JM2	ZN462_HUMAN	0			3	1658	+	G	G			Missense_Mutation	457			C2H2-type 4.			
ZNF462	58499		GRCh37	9	109688130	109688130	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000277225.5:c.1937A>C	p.Asp646Ala	p.D646A	ENST00000277225		646	gAc/gCc	0																																																																																																																																																																																																																																												
ZNF470	0	broad.mit.edu	GRCh37	19	57088457	57088457	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-14-0871-01	TCGA-14-0871-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330619.8:c.660A>G	p.Gln220=	p.Q220=	ENST00000330619	NM_001001668.3	220	caA/caG	0			1			G	Q	uc002qnl.3	protein_coding	YES	CCDS33122.1			660/2154									ovary(1)|pancreas(1)	2	c.(658-660)CAA>CAG			hmmpanther:PTHR24377	zinc finger protein 470				ENSP00000333223		6-Jun									COSM3404683	6-Jun	.		ENST00000330619	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000197016	g.chr19:57088457A>G	22220			LOW								--	--	1																																		ZNF470_uc010etn.2_Intron	1	1			p.Q220Q	NM_001001668	NP_001001668			1	ZN470_HUMAN	ZNF470	HGNC	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)			6	1336	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	UPI0000D61826	220					SNV	ZNF470,synonymous_variant,p.=,ENST00000330619,NM_001001668.3;ZNF470,synonymous_variant,p.=,ENST00000391709,;ZNF470,intron_variant,,ENST00000601902,;ZNF470,intron_variant,,ENST00000594953,;ZNF470,intron_variant,,ENST00000601059,;	uc002qnl.3	c.660A>G	1346/7151	3	3			c.660A>G						19	SNP	c.(658-660)CAA>CAG	1	1			ovary(1)|pancreas(1)	2	Broad	zinc finger protein 470			57088457		0.308	ENSG00000197016	17669	g.chr19:57088457A>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							54.492055	KEEP	12	11	-1	60	56	12	11	-1	67.987385	60	56	0.165354	1	0	0	0	0	0	0	1	0	--	--		0	G			ZNF470_uc010etn.2_Intron	141	GBM-14-0871-TP	p.Q220Q	A	AACACAAGCAAGACCGTGGAG	NM_001001668	NP_001001668	57088457	Q6ECI4	ZN470_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0294)	6	1336	+	G	G		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	Silent	220						
ZNF470	0	broad.mit.edu	GRCh37	19	57088760	57088760	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-4927-01	TCGA-76-4927-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330619.8:c.963C>T	p.Phe321=	p.F321=	ENST00000330619	NM_001001668.3	321	ttC/ttT	0			1			T	F	uc002qnl.3	protein_coding	YES	CCDS33122.1			963/2154									ovary(1)|pancreas(1)	2	c.(961-963)TTC>TTT			Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24377,PROSITE_profiles:PS50157	zinc finger protein 470				ENSP00000333223		6-Jun									COSM3404684	6-Jun	.		ENST00000330619	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000197016	g.chr19:57088760C>T	22220			LOW								--	--	1																																		ZNF470_uc010etn.2_Intron	1	1			p.F321F	NM_001001668	NP_001001668			1	ZN470_HUMAN	ZNF470	HGNC	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)			6	1639	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	UPI0000D61826	321			C2H2-type 4.		SNV	ZNF470,synonymous_variant,p.=,ENST00000330619,NM_001001668.3;ZNF470,synonymous_variant,p.=,ENST00000391709,;ZNF470,intron_variant,,ENST00000601902,;ZNF470,intron_variant,,ENST00000594953,;ZNF470,intron_variant,,ENST00000601059,;	uc002qnl.3	c.963C>T	1649/7151	2	2			c.963C>T						19	SNP	c.(961-963)TTC>TTT	29	29			ovary(1)|pancreas(1)	2	Broad	zinc finger protein 470			57088760		0.448	ENSG00000197016	17669	g.chr19:57088760C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							112.035316	KEEP	15	30	-1	47	56	15	30	-1	117.040551	47	56	0.303448	1	0	0	0	0	0	0	1	0	--	--		0	T			ZNF470_uc010etn.2_Intron	267	GBM-76-4927-TP	p.F321F	C	ATAAAGCATTCAGCCAGCTTG	NM_001001668	NP_001001668	57088760	Q6ECI4	ZN470_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0294)	6	1639	+	T	T		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	Silent	321			C2H2-type 4.			
ZNF470	388566		GRCh37	19	57089037	57089037	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0151-01	TCGA-06-0151-01																				ENST00000330619.8:c.1240C>T	p.Gln414Ter	p.Q414*	ENST00000330619	NM_001001668.3	414	Cag/Tag	0																																																																																																																																																																																																																																												
ZNF470	388566		GRCh37	19	57081704	57081704	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-32-2498-01	TCGA-32-2498-01																				ENST00000330619.8:c.24G>T	p.Glu8Asp	p.E8D	ENST00000330619	NM_001001668.3	8	gaG/gaT	0																																																																																																																																																																																																																																												
ZNF479	0	broad.mit.edu	GRCh37	7	57194352	57194352	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01	TCGA-32-4213-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000331162.4:c.113G>A	p.Arg38Gln	p.R38Q	ENST00000331162	NM_033273.1	38	cGg/cAg	0			1			T	R/Q	uc010kzo.2	protein_coding	YES	CCDS43590.1			113/1575									ovary(3)|skin(1)	4	c.(112-114)CGG>CAG			Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF103,SMART_domains:SM00349	zinc finger protein 479				ENSP00000333776		5-Mar	3.30E-05					6.01E-05			rs764951050,COSM3412216	5-Mar	.		ENST00000331162	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000185177	g.chr7:57194352C>T	23258			MODERATE		2.485	medium	getma.org/?cm=msa&ty=f&p=ZN479_HUMAN&rb=16&re=56&var=R38Q	getma.org/pdb.php?prot=ZN479_HUMAN&from=16&to=56&var=R38Q	getma.org/?cm=var&var=hg19,7,57194352,C,T&fts=all	R38Q	--	--	1																																			0,1	1		benign(0.004)	p.R38Q	NM_033273	NP_150376		tolerated(1)	0,1	ZN479_HUMAN	ZNF479	HGNC	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		I0EZ75_HUMAN		3	384	-			UPI000006E615	38			KRAB.		SNV	ZNF479,missense_variant,p.Arg38Gln,ENST00000331162,NM_033273.1;	uc010kzo.2	c.113G>A	384/2072	1	1			c.113G>A						7	SNP	c.(112-114)CGG>CAG	7	7			ovary(3)|skin(1)	4	Broad	zinc finger protein 479			57194352		0.398	ENSG00000185177	17673	g.chr7:57194352C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							124.016994	KEEP	27	25	-1	78	79	27	25	-1	129.970875	78	79	0.292208	1	0	0	0	0	1	0	0	0	--	--		0	T				247	GBM-32-4213-TP	p.R38Q	C	ATATAAATTCCGCTGAGCACA	NM_033273	NP_150376	57194352	Q96JC4	ZN479_HUMAN	0	GBM - Glioblastoma multiforme(1;9.18e-12)		3	384	-	T	T			Missense_Mutation	38			KRAB.			
ZNF483	158399	broad.mit.edu	GRCh37	9	114304228	114304228	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0210-01	TCGA-06-0210-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309235.5:c.1013C>G	p.Pro338Arg	p.P338R	ENST00000309235	NM_133464.2	338	cCc/cGc	0			1			G	P/R	uc004bff.2	protein_coding	YES	CCDS35106.1			1013/2235									skin(1)	1	c.(1012-1014)CCC>CGC			hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF128	zinc finger protein 483 isoform a				ENSP00000311679		6-Jun									COSM2150712	6-Jun	.		ENST00000309235	Transcript			viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000173258	g.chr9:114304228C>G	23384			MODERATE		0.47	neutral	getma.org/?cm=msa&ty=f&p=ZN483_HUMAN&rb=211&re=410&var=P338R	getma.org/pdb.php?prot=ZN483_HUMAN&from=211&to=410&var=P338R	getma.org/?cm=var&var=hg19,9,114304228,C,G&fts=all	P338R	--	--	1																																		ZNF483_uc004bfg.2_Intron	1	1		possibly_damaging(0.804)	p.P338R	NM_133464	NP_597721		tolerated(0.06)	1	ZN483_HUMAN	ZNF483	HGNC	Q8TF39	ZN483_HUMAN					6	1237	+			UPI00001C1EBF	338					SNV	ZNF483,missense_variant,p.Pro338Arg,ENST00000309235,NM_133464.2;ZNF483,intron_variant,,ENST00000358151,NM_001007169.2;ZNF483,downstream_gene_variant,,ENST00000355824,;	uc004bff.2	c.1013C>G	1171/3655	3	3			c.1013C>G						9	SNP	c.(1012-1014)CCC>CGC	8	8			skin(1)	1	Broad	zinc finger protein 483 isoform a			114304228		0.413	ENSG00000173258	17676	g.chr9:114304228C>G	viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							139.734968	KEEP	32	24	-1	76	73	32	24	-1	148.455995	76	73	0.269231	1	0	0	0	0	1	0	0	0	--	--		0	G			ZNF483_uc004bfg.2_Intron	47	GBM-06-0210-TP	p.P338R	C	AGCAAGAAACCCTTCAGTTTT	NM_133464	NP_597721	114304228	Q8TF39	ZN483_HUMAN	0			6	1237	+	G	G			Missense_Mutation	338						
ZNF484	0	broad.mit.edu	GRCh37	9	95610513	95610513	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-27-1838-01	TCGA-27-1838-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000375495.3:c.556G>T	p.Glu186Ter	p.E186*	ENST00000375495	NM_031486.2	186	Gag/Tag	0			1			A	E/*	uc004asu.1	protein_coding		CCDS35066.1			556/2559										0	c.(556-558)GAG>TAG			hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF144	zinc finger protein 484 isoform a				ENSP00000364645		5-May									COSM3413820	5-May	.		ENST00000375495	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000127081	g.chr9:95610513C>A	23385			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,9,95610513,C,A&fts=all	E186*	--	--	1																																		ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Nonsense_Mutation_p.E188*|ZNF484_uc010mrb.1_Nonsense_Mutation_p.E150*|ZNF484_uc004asv.1_Nonsense_Mutation_p.E150*	1				p.E186*	NM_031486	NP_113674			1	ZN484_HUMAN	ZNF484	HGNC	Q5JVG2	ZN484_HUMAN					5	705	-			UPI00001B64FA	186					SNV	ZNF484,stop_gained,p.Glu150Ter,ENST00000395505,NM_001261460.1,NM_001261459.1;ZNF484,stop_gained,p.Glu186Ter,ENST00000375495,NM_031486.2;ZNF484,stop_gained,p.Glu188Ter,ENST00000395506,;ZNF484,stop_gained,p.Glu150Ter,ENST00000332591,NM_001007101.2,NM_001261458.1;ANKRD19P,intron_variant,,ENST00000473204,;	uc004asu.1	c.556G>T	705/2867	5	1			c.556G>T						9	SNP	c.(556-558)GAG>TAG	64	64				0	Broad	zinc finger protein 484 isoform a			95610513		0.343	ENSG00000127081	17677	g.chr9:95610513C>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							304.955173	KEEP	76	54	0.415384615	151	154	76	54	0.415384615	320.127249	151	154	0.295567	1	0	0	0	0	0	1	0	0	--	--		0	A			ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Nonsense_Mutation_p.E188*|ZNF484_uc010mrb.1_Nonsense_Mutation_p.E150*|ZNF484_uc004asv.1_Nonsense_Mutation_p.E150*	197	GBM-27-1838-TP	p.E186*	C	ATGATAGGCTCCAAATTCTTT	NM_031486	NP_113674	95610513	Q5JVG2	ZN484_HUMAN	0			5	705	-	A	A			Nonsense_Mutation	186						
ZNF491	126069	broad.mit.edu	GRCh37	19	11917007	11917007	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323169.5:c.239G>A	p.Arg80His	p.R80H	ENST00000323169	NM_152356.3	80	cGt/cAt	0	A:0		1			A	R/H	uc002mso.1	protein_coding	YES	CCDS12267.1			239/1314									ovary(2)	2	c.(238-240)CGT>CAT			Gene3D:3.30.160.60,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF35,Superfamily_domains:SSF57667	zinc finger protein 491			A:0.0001	ENSP00000313443		3-Mar	1.65E-05		8.69E-05	0.000116					rs375933257,COSM2149625	3-Mar	.		ENST00000323169	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000177599	g.chr19:11917007G>A	23706			MODERATE		0.205	neutral	getma.org/?cm=msa&ty=f&p=ZN491_HUMAN&rb=1&re=89&var=R80H	NA	getma.org/?cm=var&var=hg19,19,11917007,G,A&fts=all	R80H	--	--	1																																			0,1	1		benign(0.01)	p.R80H	NM_152356	NP_689569		deleterious(0.03)	0,1	ZN491_HUMAN	ZNF491	HGNC	Q8N8L2	ZN491_HUMAN			C9IYV0_HUMAN		3	524	+			UPI000006D12C	80					SNV	ZNF491,missense_variant,p.Arg80His,ENST00000323169,NM_152356.3;ZNF491,missense_variant,p.Arg80His,ENST00000450087,;ZNF491,intron_variant,,ENST00000492230,;	uc002mso.1	c.239G>A	570/2471	1	1			c.239G>A						19	SNP	c.(238-240)CGT>CAT	60	60			ovary(2)	2	Broad	zinc finger protein 491			11917007		0.378	ENSG00000177599	17682	g.chr19:11917007G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							127.581699	KEEP	28	23	-1	49	54	28	23	-1	131.048566	49	54	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	A				18	GBM-06-0137-TP	p.R80H	G	CATAAACAACGTAGGAAAGCC	NM_152356	NP_689569	11917007	Q8N8L2	ZN491_HUMAN	0			3	524	+	A	A			Missense_Mutation	80						
ZNF492	0	broad.mit.edu	GRCh37	19	22846654	22846654	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-12-0618-01	TCGA-12-0618-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000456783.2:c.183T>A	p.Asn61Lys	p.N61K	ENST00000456783	NM_020855.2	61	aaT/aaA	0			1			A	N/K	uc002nqw.3	protein_coding	YES	CCDS46032.1			183/1596										0	c.(181-183)AAT>AAA			hmmpanther:PTHR24384:SF108,hmmpanther:PTHR24384	zinc finger protein 492				ENSP00000413660		4-Apr	8.34E-06					2.32E-05			rs750501823,COSM565803	4-Apr	.		ENST00000456783	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000229676	g.chr19:22846654T>A	23707			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=ZN492_HUMAN&rb=42&re=126&var=N61K	NA	getma.org/?cm=var&var=hg19,19,22846654,T,A&fts=all	N61K	--	--	1																																			0,1	1		possibly_damaging(0.727)	p.N61K	NM_020855	NP_065906		deleterious(0.01)	0,1	ZN492_HUMAN	ZNF492	HGNC	Q9P255	ZN492_HUMAN					4	427	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	UPI00001C200B	61					SNV	ZNF492,missense_variant,p.Asn61Lys,ENST00000456783,NM_020855.2;CTC-457E21.9,downstream_gene_variant,,ENST00000601860,;	uc002nqw.3	c.183T>A	427/4245	2	2			c.183T>A						19	SNP	c.(181-183)AAT>AAA	42	42				0	Broad	zinc finger protein 492			22846654		0.318	ENSG00000229676	17683	g.chr19:22846654T>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							55.20356	KEEP	6	13	-1	8	5	6	13	-1	55.271167	8	5	0.551724	1	0	0	0	0	1	0	0	0	--	--		0	A				119	GBM-12-0618-TP	p.N61K	T	GCAAAAAAAATTATTTCCAAA	NM_020855	NP_065906	22846654	Q9P255	ZN492_HUMAN	0			4	427	+	A	A		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	Missense_Mutation	61						
ZNF492	0	broad.mit.edu	GRCh37	19	22846757	22846757	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	rs112130958		TCGA-32-4209-01	TCGA-32-4209-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000456783.2:c.286G>T	p.Glu96Ter	p.E96*	ENST00000456783	NM_020855.2	96	Gaa/Taa	0			1			T	E/*	uc002nqw.3	protein_coding	YES	CCDS46032.1			286/1596										0	c.(286-288)GAA>TAA			hmmpanther:PTHR24384:SF108,hmmpanther:PTHR24384	zinc finger protein 492				ENSP00000413660		4-Apr									COSM994011	4-Apr	.		ENST00000456783	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000229676	g.chr19:22846757G>T	23707			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,19,22846757,G,T&fts=all	E96*	--	--	1																																			1	1			p.E96*	NM_020855	NP_065906			1	ZN492_HUMAN	ZNF492	HGNC	Q9P255	ZN492_HUMAN					4	530	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	UPI00001C200B	96					SNV	ZNF492,stop_gained,p.Glu96Ter,ENST00000456783,NM_020855.2;CTC-457E21.9,downstream_gene_variant,,ENST00000601860,;	uc002nqw.3	c.286G>T	530/4245	5	2			c.286G>T						19	SNP	c.(286-288)GAA>TAA	25	25				0	Broad	zinc finger protein 492			22846757		0.299	ENSG00000229676	17683	g.chr19:22846757G>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							35.228849	KEEP	14	3	0.823529412	19	20	14	3	0.823529412	36.802245	19	20	0.304348	1	0	0	0	0	0	1	0	0	--	--		0	T				244	GBM-32-4209-TP	p.E96*	G	GGTGCACAAAGAATGTTACAA	NM_020855	NP_065906	22846757	Q9P255	ZN492_HUMAN	0			4	530	+	T	T		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	Nonsense_Mutation	96						
ZNF492	0	broad.mit.edu	GRCh37	19	22846866	22846866	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01	TCGA-76-6285-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000456783.2:c.395C>T	p.Thr132Met	p.T132M	ENST00000456783	NM_020855.2	132	aCg/aTg	0	T:0		1			T	T/M	uc002nqw.3	protein_coding	YES	CCDS46032.1			395/1596										0	c.(394-396)ACG>ATG			hmmpanther:PTHR24384:SF108,hmmpanther:PTHR24384,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	zinc finger protein 492			T:0.0001	ENSP00000413660		4-Apr	8.26E-06					2.08E-05			rs376885920,COSM3404039	4-Apr	.		ENST00000456783	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000229676	g.chr19:22846866C>T	23707			MODERATE		-1.035	neutral	getma.org/?cm=msa&ty=f&p=ZN492_HUMAN&rb=107&re=170&var=T132M	getma.org/pdb.php?prot=ZN492_HUMAN&from=127&to=150&var=T132M	getma.org/?cm=var&var=hg19,19,22846866,C,T&fts=all	T132M	--	--	1																																			0,1	1		benign(0.011)	p.T132M	NM_020855	NP_065906		deleterious(0.01)	0,1	ZN492_HUMAN	ZNF492	HGNC	Q9P255	ZN492_HUMAN					4	639	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	UPI00001C200B	132					SNV	ZNF492,missense_variant,p.Thr132Met,ENST00000456783,NM_020855.2;CTC-457E21.9,downstream_gene_variant,,ENST00000601860,;	uc002nqw.3	c.395C>T	639/4245	2	2			c.395C>T						19	SNP	c.(394-396)ACG>ATG	22	22				0	Broad	zinc finger protein 492			22846866		0.308	ENSG00000229676	17683	g.chr19:22846866C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							26.169885	KEEP	6	3	-1	10	4	6	3	-1	26.407844	10	4	0.391304	1	0	0	0	0	1	0	0	0	--	--		0	T				280	GBM-76-6285-TP	p.T132M	C	AACAGACATACGATAAGACAT	NM_020855	NP_065906	22846866	Q9P255	ZN492_HUMAN	0			4	639	+	T	T		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	Missense_Mutation	132						
ZNF493	284443	broad.mit.edu	GRCh37	19	21606942	21606942	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01	TCGA-06-0744-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000392288.2:c.1481G>A	p.Cys494Tyr	p.C494Y	ENST00000392288	NM_001076678.2	494	tGt/tAt	0			1			A	C/Y	uc002npx.2	protein_coding		CCDS12412.1			1097/1941									ovary(1)	1	c.(1096-1098)TGT>TAT			PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF247,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 493 isoform 1				ENSP00000347691		2-Feb									COSM2151609,COSM2151608	2-Feb	.		ENST00000355504	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000196268	g.chr19:21606942G>A	23708			MODERATE		3.845	high	getma.org/?cm=msa&ty=f&p=ZN493_HUMAN&rb=327&re=392&var=C366Y	getma.org/pdb.php?prot=ZN493_HUMAN&from=347&to=372&var=C366Y	getma.org/?cm=var&var=hg19,19,21606942,G,A&fts=all	C366Y	--	--	1																																		ZNF493_uc002npw.2_Missense_Mutation_p.C494Y|ZNF493_uc002npy.2_Missense_Mutation_p.C366Y	1,1			possibly_damaging(0.738)	p.C366Y	NM_175910	NP_787106		deleterious(0)	1,1	ZN493_HUMAN	ZNF493	HGNC	Q6ZR52	ZN493_HUMAN					2	1377	+			UPI000022ABBE	366			C2H2-type 13.		SNV	ZNF493,missense_variant,p.Cys494Tyr,ENST00000392288,NM_001076678.2;ZNF493,missense_variant,p.Cys366Tyr,ENST00000355504,NM_175910.6;ZNF493,downstream_gene_variant,,ENST00000596302,;CTD-2561J22.3,intron_variant,,ENST00000600810,;ZNF493,downstream_gene_variant,,ENST00000598152,;	uc002npx.2	c.1097G>A	1363/4386	2	2			c.1097G>A						19	SNP	c.(1096-1098)TGT>TAT	22	22			ovary(1)	1	Broad	zinc finger protein 493 isoform 1			21606942		0.328	ENSG00000196268	17684	g.chr19:21606942G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							65.668908	KEEP	12	13	-1	30	27	12	13	-1	68.241425	30	27	0.307692	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF493_uc002npw.2_Missense_Mutation_p.C494Y|ZNF493_uc002npy.2_Missense_Mutation_p.C366Y	66	GBM-06-0744-TP	p.C366Y	G	TGTGAAGAATGTGGCAAAGCT	NM_175910	NP_787106	21606942	Q6ZR52	ZN493_HUMAN	0			2	1377	+	A	A			Missense_Mutation	366			C2H2-type 13.			
ZNF497	0	broad.mit.edu	GRCh37	19	58868065	58868065	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-6173-01	TCGA-26-6173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311044.3:c.937G>A	p.Glu313Lys	p.E313K	ENST00000311044	NM_198458.2	313	Gag/Aag	0			1			T	E/K	uc002qsh.1	protein_coding	YES	CCDS12977.1			937/1497									central_nervous_system(2)	2	c.(937-939)GAG>AAG			Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF30,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 497				ENSP00000311183		3-Mar									COSM3404728	3-Mar	.		ENST00000311044	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000174586	g.chr19:58868065C>T	23714			MODERATE		-0.56	neutral	getma.org/?cm=msa&ty=f&p=ZN497_HUMAN&rb=268&re=333&var=E313K	getma.org/pdb.php?prot=ZN497_HUMAN&from=288&to=313&var=E313K	getma.org/?cm=var&var=hg19,19,58868065,C,T&fts=all	E313K	--	--	1																																		A1BG_uc002qsf.1_Intron|ZNF497_uc002qsi.1_Missense_Mutation_p.E313K|uc002qsj.1_5'Flank|uc002qsk.1_5'Flank	1	1		benign(0.24)	p.E313K	NM_198458	NP_940860		tolerated(0.33)	1	ZN497_HUMAN	ZNF497	HGNC	Q6ZNH5	ZN497_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)			3	1126	-		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	UPI00001D819C	313			C2H2-type 8.		SNV	ZNF497,missense_variant,p.Glu313Lys,ENST00000311044,NM_198458.2;ZNF497,missense_variant,p.Glu313Lys,ENST00000425453,NM_001207009.1;A1BG,upstream_gene_variant,,ENST00000263100,NM_130786.3;A1BG,upstream_gene_variant,,ENST00000600966,;ZNF497,downstream_gene_variant,,ENST00000595763,;A1BG-AS1,downstream_gene_variant,,ENST00000595302,;A1BG-AS1,downstream_gene_variant,,ENST00000594950,;CTD-2619J13.9,upstream_gene_variant,,ENST00000599952,;A1BG-AS1,downstream_gene_variant,,ENST00000600686,;A1BG-AS1,downstream_gene_variant,,ENST00000593960,;A1BG-AS1,downstream_gene_variant,,ENST00000593374,;A1BG-AS1,downstream_gene_variant,,ENST00000600379,;A1BG-AS1,downstream_gene_variant,,ENST00000599728,;CTD-2619J13.8,intron_variant,,ENST00000599109,;CTD-2619J13.8,upstream_gene_variant,,ENST00000600123,;CTD-2619J13.8,upstream_gene_variant,,ENST00000596636,;A1BG,upstream_gene_variant,,ENST00000595014,;	uc002qsh.1	c.937G>A	1126/3468	1	1			c.937G>A						19	SNP	c.(937-939)GAG>AAG	5	5			central_nervous_system(2)	2	Broad	zinc finger protein 497			58868065		0.701	ENSG00000174586	17686	g.chr19:58868065C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			25			25	17.948587	KEEP	3	3	-1	3	4	3	3	-1	17.965342	3	4	0.461538	1	0	0	0	0	1	0	0	0	--	--		0	T			A1BG_uc002qsf.1_Intron|ZNF497_uc002qsi.1_Missense_Mutation_p.E313K|uc002qsj.1_5'Flank|uc002qsk.1_5'Flank	187	GBM-26-6173-TP	p.E313K	C	TGCGAGCTCTCGCGGAAAGCC	NM_198458	NP_940860	58868065	Q6ZNH5	ZN497_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)	3	1126	-	T	T		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	Missense_Mutation	313			C2H2-type 8.			
ZNF500	26048	broad.mit.edu	GRCh37	16	4810588	4810588	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C			TCGA-06-0745-01	TCGA-06-0745-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000219478.6:c.665T>G	p.Val222Gly	p.V222G	ENST00000219478		222	gTg/gGg	0			1			C	V/G	uc002cxp.1	protein_coding	YES	CCDS32383.1			665/1443									ovary(2)|skin(1)	3	c.(664-666)GTG>GGG			hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF53,Superfamily_domains:0044637	zinc finger protein 500				ENSP00000219478		6-May	5.77E-05	0.000194			0.000155	3.02E-05	0.00111		rs759002221,COSM1128950	6-May	.		ENST00000219478	Transcript			viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000103199	g.chr16:4810588A>C	23716			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=ZN500_HUMAN&rb=140&re=223&var=V222G	NA	getma.org/?cm=var&var=hg19,16,4810588,A,C&fts=all	V222G	--	--	1																																		ZNF500_uc002cxo.1_Missense_Mutation_p.V14G|ZNF500_uc010uxt.1_Missense_Mutation_p.V222G	0,1	1		benign(0.038)	p.V222G	NM_021646	NP_067678		deleterious(0)	0,1	ZN500_HUMAN	ZNF500	HGNC	O60304	ZN500_HUMAN			Q0VAL1_HUMAN,K7ERS9_HUMAN,K7EPZ1_HUMAN,K7EIH1_HUMAN		5	912	-			UPI00001C1FB0	222					SNV	ZNF500,missense_variant,p.Val222Gly,ENST00000219478,;ZNF500,missense_variant,p.Val222Gly,ENST00000545009,NM_021646.1;ZNF500,upstream_gene_variant,,ENST00000592425,;ZNF500,splice_region_variant,,ENST00000589422,;	uc002cxp.1	c.665T>G	965/5880	3	3			c.665T>G						16	SNP	c.(664-666)GTG>GGG	60	60			ovary(2)|skin(1)	3	Broad	zinc finger protein 500			4810588		0.637	ENSG00000103199	17688	g.chr16:4810588A>C	viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							6.937541	KEEP	28	16	-1	25	42	28	16	-1	12.356771	25	42	0.192982	1	0	0	0	0	1	0	0	0	--	--		0	C			ZNF500_uc002cxo.1_Missense_Mutation_p.V14G|ZNF500_uc010uxt.1_Missense_Mutation_p.V222G	67	GBM-06-0745-TP	p.V222G	A	GTTCACGGGCACCTGCCAGAA	NM_021646	NP_067678	4810588	O60304	ZN500_HUMAN	0			5	912	-	C	C			Missense_Mutation	222						
ZNF506	440515	broad.mit.edu	GRCh37	19	19905675	19905675	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-2565-01	TCGA-06-2565-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000443905.2:c.1021T>C	p.Tyr341His	p.Y341H	ENST00000443905		341	Tac/Cac	0			1			G	Y/H	uc010eci.2	protein_coding	YES	CCDS42531.1			1021/1335										0	c.(1021-1023)TAC>CAC			PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF82,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 506 isoform 1				ENSP00000393835		5-Apr									COSM3404000	5-Apr	.		ENST00000443905	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	ENSG00000081665	g.chr19:19905675A>G	23780			MODERATE		0.8	neutral	getma.org/?cm=msa&ty=f&p=ZN506_HUMAN&rb=307&re=372&var=Y341H	getma.org/pdb.php?prot=ZN506_HUMAN&from=327&to=352&var=Y341H	getma.org/?cm=var&var=hg19,19,19905675,A,G&fts=all	Y341H	0.925	low	1																																		ZNF506_uc002nog.2_Intron|ZNF506_uc002noh.3_Missense_Mutation_p.Y309H	1	1		probably_damaging(1)	p.Y341H	NM_001099269	NP_001092739		deleterious(0)	1	ZN506_HUMAN	ZNF506	HGNC	Q5JVG8	ZN506_HUMAN			K7ERD0_HUMAN		4	1169	-			UPI00001B6472	341			C2H2-type 6.		SNV	ZNF506,missense_variant,p.Tyr341His,ENST00000443905,;ZNF506,missense_variant,p.Tyr341His,ENST00000540806,;ZNF506,missense_variant,p.Tyr309His,ENST00000450683,NM_001145404.1;ZNF506,intron_variant,,ENST00000587461,;ZNF506,intron_variant,,ENST00000590766,;ZNF506,downstream_gene_variant,,ENST00000545006,;ZNF506,downstream_gene_variant,,ENST00000587452,;ZNF506,downstream_gene_variant,,ENST00000590319,;CTC-559E9.4,intron_variant,,ENST00000590274,;CTC-559E9.6,intron_variant,,ENST00000589657,;CTC-559E9.6,intron_variant,,ENST00000591884,;CTC-559E9.5,upstream_gene_variant,,ENST00000590697,;ZNF506,missense_variant,p.Tyr341His,ENST00000591639,;ZNF506,intron_variant,,ENST00000586260,;ZNF506,downstream_gene_variant,,ENST00000587822,;	uc010eci.2	c.1021T>C	1169/2875	3	3			c.1021T>C						19	SNP	c.(1021-1023)TAC>CAC	3	3				0	Broad	zinc finger protein 506 isoform 1			19905675		0.408	ENSG00000081665	17692	g.chr19:19905675A>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding							-59.526525	KEEP	2	2	-1	119	140	2	2	-1	8.565115	119	140	0.015625	1	0	0	0	0	1	0	0	0	0.925	low		0	G			ZNF506_uc002nog.2_Intron|ZNF506_uc002noh.3_Missense_Mutation_p.Y309H	88	GBM-06-2565-TP	p.Y341H	A	TCACATTTGTAGGGTACATCT	NM_001099269	NP_001092739	19905675	Q5JVG8	ZN506_HUMAN	0			4	1169	-	G	G			Missense_Mutation	341			C2H2-type 6.			
ZNF507	22847	broad.mit.edu	GRCh37	19	32847587	32847609	+	frameshift_variant	Frame_Shift_Del	DEL	TAATGAGCCAAGAATTTCCAGTG	TAATGAGCCAAGAATTTCCAGTG	-			TCGA-06-5415-01	TCGA-06-5415-01	TAATGAGCCAAGAATTTCCAGTG	TAATGAGCCAAGAATTTCCAGTG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000311921.4:c.2193_2215del	p.Asn732TyrfsTer3	p.N732Yfs*3	ENST00000311921	NM_014910.4	731	tcTAATGAGCCAAGAATTTCCAGTGat/tcat	0			1			-	SNEPRISSD/SX	uc002nte.2	protein_coding	YES	CCDS32985.1			2193-2215/2862									ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	5	c.(2191-2217)TCTAATGAGCCAAGAATTTCCAGTGATfs			hmmpanther:PTHR24402:SF193,hmmpanther:PTHR24402	zinc finger protein 507				ENSP00000312277		6-Mar										6-Mar	.		ENST00000311921	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000168813	g.chr19:32847587_32847609delTAATGAGCCAAGAATTTCCAGTG	23783			HIGH								--	--	1																																		ZNF507_uc002ntc.2_Frame_Shift_Del_p.S731fs|ZNF507_uc010xrn.1_Frame_Shift_Del_p.S731fs|ZNF507_uc002ntd.2_Frame_Shift_Del_p.S731fs		1			p.S731fs	NM_001136156	NP_001129628				ZN507_HUMAN	ZNF507	HGNC	Q8TCN5	ZN507_HUMAN					4	2465_2487	+	Esophageal squamous(110;0.162)		UPI0000202010	731_739					deletion	ZNF507,frameshift_variant,p.Asn732TyrfsTer3,ENST00000311921,NM_014910.4,NM_001136156.1;ZNF507,frameshift_variant,p.Asn732TyrfsTer3,ENST00000544431,;ZNF507,frameshift_variant,p.Asn732TyrfsTer3,ENST00000355898,;ZNF507,non_coding_transcript_exon_variant,,ENST00000587084,;	uc002nte.2	c.2193_2215delTAATGAGCCAAGAATTTCCAGTG	2385-2407/7638	5	5			c.2193_2215delTAATGAGCCAAGAATTTCCAGTG						19	DEL	c.(2191-2217)TCTAATGAGCCAAGAATTTCCAGTGATfs	43	43			ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	5	Broad	zinc finger protein 507			32847609		0.381	ENSG00000168813	17693	g.chr19:32847587_32847609delTAATGAGCCAAGAATTTCCAGTG	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding																				0.07	1	1	0	1	0	0	0	0	0	--	--		0	-			ZNF507_uc002ntc.2_Frame_Shift_Del_p.S731fs|ZNF507_uc010xrn.1_Frame_Shift_Del_p.S731fs|ZNF507_uc002ntd.2_Frame_Shift_Del_p.S731fs	98	GBM-06-5415-TP	p.S731fs	TAATGAGCCAAGAATTTCCAGTG	TAGCAACTTCTAATGAGCCAAGAATTTCCAGTGATACAGCTGA	NM_001136156	NP_001129628	32847587	Q8TCN5	ZN507_HUMAN	0			4	2465_2487	+	-	-	Esophageal squamous(110;0.162)		Frame_Shift_Del	731_739						
ZNF513	0	broad.mit.edu	GRCh37	2	27600813	27600813	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-12-5299-01	TCGA-12-5299-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323703.6:c.1225G>A	p.Val409Ile	p.V409I	ENST00000323703	NM_144631.5	409	Gtc/Atc	0	T:0		1			T	V/I	uc002rkk.2	protein_coding	YES	CCDS1751.1			1225/1626									ovary(1)	1	c.(1225-1227)GTC>ATC			PROSITE_profiles:PS50157,hmmpanther:PTHR24382:SF3,hmmpanther:PTHR24382,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	zinc finger protein 513			T:0.0001	ENSP00000318373		4-Apr	2.47E-05					4.50E-05			rs371898387,COSM3407792	4-Apr	.		ENST00000323703	Transcript	1		regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	ENSG00000163795	g.chr2:27600813C>T	26498			MODERATE		-1.175	neutral	getma.org/?cm=msa&ty=f&p=ZN513_HUMAN&rb=382&re=447&var=V409I	getma.org/pdb.php?prot=ZN513_HUMAN&from=402&to=427&var=V409I	getma.org/?cm=var&var=hg19,2,27600813,C,T&fts=all	V409I	--	--	1																																		ZNF513_uc002rkj.2_Missense_Mutation_p.V347I	0,1	1		benign(0.312)	p.V409I	NM_144631	NP_653232		deleterious(0.04)	0,1	ZN513_HUMAN	ZNF513	HGNC	Q8N8E2	ZN513_HUMAN			C9JT52_HUMAN		4	1425	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		UPI00000437BA	409			C2H2-type 5.		SNV	ZNF513,missense_variant,p.Val409Ile,ENST00000323703,NM_144631.5;ZNF513,missense_variant,p.Val347Ile,ENST00000407879,NM_001201459.1;PPM1G,downstream_gene_variant,,ENST00000344034,NM_177983.2;PPM1G,downstream_gene_variant,,ENST00000350803,;SNX17,downstream_gene_variant,,ENST00000233575,NM_001267059.1,NM_001267061.1,NM_014748.3;SNX17,downstream_gene_variant,,ENST00000542478,;SNX17,downstream_gene_variant,,ENST00000543024,;SNX17,downstream_gene_variant,,ENST00000537606,NM_001267060.1;ZNF513,downstream_gene_variant,,ENST00000436006,;ZNF513,non_coding_transcript_exon_variant,,ENST00000491924,;PPM1G,downstream_gene_variant,,ENST00000472077,;SNX17,downstream_gene_variant,,ENST00000427123,;SNX17,downstream_gene_variant,,ENST00000440760,;SNX17,downstream_gene_variant,,ENST00000453453,;SNX17,downstream_gene_variant,,ENST00000494893,;SNX17,downstream_gene_variant,,ENST00000489402,;SNX17,downstream_gene_variant,,ENST00000493711,;SNX17,downstream_gene_variant,,ENST00000464279,;	uc002rkk.2	c.1225G>A	1424/2139	2	2			c.1225G>A						2	SNP	c.(1225-1227)GTC>ATC	26	26			ovary(1)	1	Broad	zinc finger protein 513			27600813		0.587	ENSG00000163795	17698	g.chr2:27600813C>T	regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding							550.662677	KEEP	92	105	-1	136	109	92	105	-1	551.830278	136	109	0.442543	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF513_uc002rkj.2_Missense_Mutation_p.V347I	130	GBM-12-5299-TP	p.V409I	C	CCTGTATGGACGCGCTGGTGC	NM_144631	NP_653232	27600813	Q8N8E2	ZN513_HUMAN	0			4	1425	-	T	T	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Missense_Mutation	409			C2H2-type 5.			
ZNF516	9658	broad.mit.edu	GRCh37	18	74154420	74154420	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-02-2486-01	TCGA-02-2486-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000443185.2:c.591C>A	p.His197Gln	p.H197Q	ENST00000443185	NM_014643.3	197	caC/caA	0			1			T	H/Q	uc010dqx.1	protein_coding	YES				591/3492									ovary(1)	1	c.(589-591)CAC>CAA			SMART_domains:SM00355,Pfam_domain:PF13894,PROSITE_patterns:PS00028,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF3	zinc finger protein 516				ENSP00000394757		8-Mar	0.000165	0.000122		0.000245	0.000838	4.90E-05		6.16E-05	rs767503077,COSM3748039	8-Mar	common_variant		ENST00000443185	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000101493	g.chr18:74154420G>T	28990			MODERATE								--	--	1																																		ZNF516_uc002lme.2_RNA	0,1	1		probably_damaging(0.995)	p.H197Q	NM_014643	NP_055458		tolerated(0.19)	0,1	ZN516_HUMAN	ZNF516	HGNC	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	F5H2K2_HUMAN		2	826	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	UPI00001394A1	197			C2H2-type 3.		SNV	ZNF516,missense_variant,p.His197Gln,ENST00000443185,NM_014643.3;ZNF516,downstream_gene_variant,,ENST00000532857,;ZNF516,non_coding_transcript_exon_variant,,ENST00000524431,;	uc010dqx.1	c.591C>A	909/8619	2	2			c.591C>A						18	SNP	c.(589-591)CAC>CAA	24	24			ovary(1)	1	Broad	zinc finger protein 516			74154420		0.667	ENSG00000101493	17700	g.chr18:74154420G>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							1.162725	KEEP	7	12	0.368421053	31	30	7	12	0.368421053	8.849518	31	30	0.088889	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF516_uc002lme.2_RNA	8	GBM-02-2486-TP	p.H197Q	G	TGAACGGCTTGTGCGCCTGGT	NM_014643	NP_055458	74154420	Q92618	ZN516_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	2	826	-	T	T		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	Missense_Mutation	197			C2H2-type 3.			
ZNF516	0	broad.mit.edu	GRCh37	18	74154336	74154336	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-0789-01	TCGA-14-0789-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000443185.2:c.675C>T	p.Thr225=	p.T225=	ENST00000443185	NM_014643.3	225	acC/acT	0			1			A	T	uc010dqx.1	protein_coding	YES				675/3492									ovary(1)	1	c.(673-675)ACC>ACT			hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF3	zinc finger protein 516				ENSP00000394757		8-Mar									COSM3403664	8-Mar	.		ENST00000443185	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000101493	g.chr18:74154336G>A	28990			LOW								--	--	1																																		ZNF516_uc002lme.2_RNA	1	1			p.T225T	NM_014643	NP_055458			1	ZN516_HUMAN	ZNF516	HGNC	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	F5H2K2_HUMAN		2	910	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	UPI00001394A1	225					SNV	ZNF516,synonymous_variant,p.=,ENST00000443185,NM_014643.3;ZNF516,downstream_gene_variant,,ENST00000532857,;ZNF516,non_coding_transcript_exon_variant,,ENST00000524431,;	uc010dqx.1	c.675C>T	993/8619	1	1			c.675C>T						18	SNP	c.(673-675)ACC>ACT	60	60			ovary(1)	1	Broad	zinc finger protein 516			74154336		0.697	ENSG00000101493	17700	g.chr18:74154336G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							28.440557	KEEP	11	7	-1	32	22	11	7	-1	32.69433	32	22	0.220339	1	0	0	0	0	0	0	1	0	--	--		0	A			ZNF516_uc002lme.2_RNA	136	GBM-14-0789-TP	p.T225T	G	GCCCCTGCGCGGTGATGTGGT	NM_014643	NP_055458	74154336	Q92618	ZN516_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	2	910	-	A	A		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	Silent	225						
ZNF516	0	broad.mit.edu	GRCh37	18	74091275	74091275	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5947-01	TCGA-19-5947-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000443185.2:c.2795C>T	p.Thr932Met	p.T932M	ENST00000443185	NM_014643.3	932	aCg/aTg	0	A:0		1			A	T/M	uc010dqx.1	protein_coding	YES				2795/3492									ovary(1)	1	c.(2794-2796)ACG>ATG			hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF3	zinc finger protein 516			A:0.0003	ENSP00000394757		8-Apr	9.23E-05		0.000178			0.000135		7.24E-05	rs370362208,COSM303639	8-Apr	.		ENST00000443185	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000101493	g.chr18:74091275G>A	28990			MODERATE								--	--	1																																		ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	0,1	1		possibly_damaging(0.611)	p.T932M	NM_014643	NP_055458		deleterious(0)	0,1	ZN516_HUMAN	ZNF516	HGNC	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	F5H2K2_HUMAN		3	3030	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	UPI00001394A1	932					SNV	ZNF516,missense_variant,p.Thr932Met,ENST00000443185,NM_014643.3;ZNF516,upstream_gene_variant,,ENST00000542818,;RP11-504I13.3,downstream_gene_variant,,ENST00000583287,;ZNF516,non_coding_transcript_exon_variant,,ENST00000524431,;ZNF516,non_coding_transcript_exon_variant,,ENST00000529449,;	uc010dqx.1	c.2795C>T	3113/8619	1	1			c.2795C>T						18	SNP	c.(2794-2796)ACG>ATG	55	55			ovary(1)	1	Broad	zinc finger protein 516			74091275		0.726	ENSG00000101493	17700	g.chr18:74091275G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							46.494335	KEEP	11	10	-1	25	28	11	10	-1	49.471741	25	28	0.279412	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	169	GBM-19-5947-TP	p.T932M	G	GACGGTGGGCGTAGGGGTGGC	NM_014643	NP_055458	74091275	Q92618	ZN516_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	3	3030	-	A	A		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	Missense_Mutation	932						
ZNF516	0	broad.mit.edu	GRCh37	18	74090999	74090999	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1991-01	TCGA-32-1991-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000443185.2:c.3071C>T	p.Ala1024Val	p.A1024V	ENST00000443185	NM_014643.3	1024	gCg/gTg	0			1			A	A/V	uc010dqx.1	protein_coding	YES				3071/3492									ovary(1)	1	c.(3070-3072)GCG>GTG			hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF3	zinc finger protein 516				ENSP00000394757		8-Apr	0.000109					3.21E-05		0.000671	rs761660108,COSM3403662	8-Apr	common_variant		ENST00000443185	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000101493	g.chr18:74090999G>A	28990			MODERATE								--	--	1																																		ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	0,1	1		benign(0.001)	p.A1024V	NM_014643	NP_055458		tolerated(0.16)	0,1	ZN516_HUMAN	ZNF516	HGNC	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	F5H2K2_HUMAN		3	3306	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	UPI00001394A1	1024					SNV	ZNF516,missense_variant,p.Ala1024Val,ENST00000443185,NM_014643.3;ZNF516,upstream_gene_variant,,ENST00000542818,;RP11-504I13.3,downstream_gene_variant,,ENST00000583287,;ZNF516,non_coding_transcript_exon_variant,,ENST00000524431,;ZNF516,non_coding_transcript_exon_variant,,ENST00000529449,;	uc010dqx.1	c.3071C>T	3389/8619	1	1			c.3071C>T						18	SNP	c.(3070-3072)GCG>GTG	49	49			ovary(1)	1	Broad	zinc finger protein 516			74090999		0.721	ENSG00000101493	17700	g.chr18:74090999G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							108.307786	KEEP	24	22	-1	17	24	24	22	-1	108.833061	17	24	0.6	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	234	GBM-32-1991-TP	p.A1024V	G	CTGCAAGGCCGCGTCGCCCCT	NM_014643	NP_055458	74090999	Q92618	ZN516_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	3	3306	-	A	A		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	Missense_Mutation	1024						
ZNF516	0	broad.mit.edu	GRCh37	18	74153649	74153649	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000443185.2:c.1362C>T	p.Arg454=	p.R454=	ENST00000443185	NM_014643.3	454	cgC/cgT	0			1			A	R	uc010dqx.1	protein_coding	YES				1362/3492									ovary(1)	1	c.(1360-1362)CGC>CGT			hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF3	zinc finger protein 516				ENSP00000394757		8-Mar	8.54E-06					0.000165			rs763027474,COSM3403663	8-Mar	.		ENST00000443185	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000101493	g.chr18:74153649G>A	28990			LOW								--	--	1																																		ZNF516_uc002lme.2_RNA	0,1	1			p.R454R	NM_014643	NP_055458			0,1	ZN516_HUMAN	ZNF516	HGNC	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	F5H2K2_HUMAN		2	1597	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	UPI00001394A1	454					SNV	ZNF516,synonymous_variant,p.=,ENST00000443185,NM_014643.3;ZNF516,downstream_gene_variant,,ENST00000532857,;ZNF516,non_coding_transcript_exon_variant,,ENST00000524431,;	uc010dqx.1	c.1362C>T	1680/8619	2	2			c.1362C>T						18	SNP	c.(1360-1362)CGC>CGT	46	46			ovary(1)	1	Broad	zinc finger protein 516			74153649		0.731	ENSG00000101493	17700	g.chr18:74153649G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							13.60489	KEEP	4	1	-1	1	0	4	1	-1	14.020434	1	0	0.8	1	0	0	0	0	0	0	1	0	--	--		0	A			ZNF516_uc002lme.2_RNA	270	GBM-76-4931-TP	p.R454R	G	GGACGTACTCGCGCCTGTCCT	NM_014643	NP_055458	74153649	Q92618	ZN516_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	2	1597	-	A	A		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	Silent	454						
ZNF518A	0	broad.mit.edu	GRCh37	10	97916083	97916083	+	intron_variant,non_coding_transcript_variant	Intron	SNP	C	C	T			TCGA-12-3653-01	TCGA-12-3653-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316045.5:n.571+279C>T		*191*	ENST00000316045				0			1			T		uc001klp.2	processed_transcript														ovary(1)	1	c.(4-6)CCA>TCA				zinc finger protein 518															COSM3397331,COSM3397330		.		ENST00000316045	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000177853	g.chr10:97916083C>T	29009			MODIFIER	7-Jun	1.955	medium	getma.org/?cm=msa&ty=f&p=Z518A_HUMAN&rb=1&re=133&var=P2S	NA	getma.org/?cm=var&var=hg19,10,97916083,C,T&fts=all	P2S	--	--	1																																		ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.2_Missense_Mutation_p.P2S|ZNF518A_uc001klr.2_Missense_Mutation_p.P2S	1,1				p.P2S	NM_014803	NP_055618			1,1		ZNF518A	HGNC	Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)			6	861	+		Colorectal(252;0.0815)		2					SNV	ZNF518A,non_coding_transcript_exon_variant,,ENST00000534948,;ZNF518A,non_coding_transcript_exon_variant,,ENST00000567632,;ZNF518A,non_coding_transcript_exon_variant,,ENST00000478086,;ZNF518A,intron_variant,,ENST00000316045,;ZNF518A,intron_variant,,ENST00000563195,;ZNF518A,intron_variant,,ENST00000442635,;ZNF518A,downstream_gene_variant,,ENST00000488700,;ZNF518A,downstream_gene_variant,,ENST00000539666,;ZNF518A,non_coding_transcript_exon_variant,,ENST00000371192,;	uc001klp.2	c.4C>T	-/3453	2	2			c.4C>T						10	SNP	c.(4-6)CCA>TCA	17	17			ovary(1)	1	Broad	zinc finger protein 518			97916083		0.308	ENSG00000177853	17702	g.chr10:97916083C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-4.320137	KEEP	1	4	-1	28	27	1	4	-1	6.353382	28	27	0.057692	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.2_Missense_Mutation_p.P2S|ZNF518A_uc001klr.2_Missense_Mutation_p.P2S	128	GBM-12-3653-TP	p.P2S	C	TTAAATCATGCCATCTGAACA	NM_014803	NP_055618	97916083	Q6AHZ1	Z518A_HUMAN	0		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	6	861	+	T	T		Colorectal(252;0.0815)	Missense_Mutation	2						
ZNF518B	85460	broad.mit.edu	GRCh37	4	10446518	10446518	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0129-01	TCGA-06-0129-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326756.3:c.1435G>A	p.Val479Ile	p.V479I	ENST00000326756	NM_053042.2	479	Gtt/Att	0			1			T	V/I	uc003gmn.2	protein_coding	YES	CCDS33960.1			1435/3225									ovary(3)|upper_aerodigestive_tract(1)	4	c.(1435-1437)GTT>ATT			hmmpanther:PTHR10032:SF188,hmmpanther:PTHR10032	zinc finger protein 518B				ENSP00000317614		3-Mar	8.24E-06							6.09E-05	rs775819635,COSM1165421	3-Mar	.		ENST00000326756	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000178163	g.chr4:10446518C>T	29365			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=Z518B_HUMAN&rb=373&re=1072&var=V479I	NA	getma.org/?cm=var&var=hg19,4,10446518,C,T&fts=all	V479I	--	--	1																																			0,1	1		benign(0.001)	p.V479I	NM_053042	NP_444270		tolerated(0.51)	0,1	Z518B_HUMAN	ZNF518B	HGNC	Q9C0D4	Z518B_HUMAN			D6RDM9_HUMAN		3	1922	-			UPI0000160B97	479					SNV	ZNF518B,missense_variant,p.Val479Ile,ENST00000326756,NM_053042.2;ZNF518B,downstream_gene_variant,,ENST00000507515,;	uc003gmn.2	c.1435G>A	1874/6894	1	1			c.1435G>A						4	SNP	c.(1435-1437)GTT>ATT	14	14			ovary(3)|upper_aerodigestive_tract(1)	4	Broad	zinc finger protein 518B			10446518		0.348	ENSG00000178163	17703	g.chr4:10446518C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							196.103234	KEEP	35	27	-1	32	36	35	27	-1	196.130813	32	36	0.483871	1	0	0	0	0	1	0	0	0	--	--		0	T				15	GBM-06-0129-TP	p.V479I	C	TTTAAGGCAACGGAAGGAAAA	NM_053042	NP_444270	10446518	Q9C0D4	Z518B_HUMAN	0			3	1922	-	T	T			Missense_Mutation	479						
ZNF519	0	broad.mit.edu	GRCh37	18	14105942	14105942	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-32-2495-01	TCGA-32-2495-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000590202.1:c.597T>C	p.Pro199=	p.P199=	ENST00000590202	NM_145287.3	199	ccT/ccC	0			1			G	P	uc002kst.1	protein_coding	YES	CCDS32797.1			597/1623										0	c.(595-597)CCT>CCC			PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF97,hmmpanther:PTHR24384,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 519				ENSP00000464872		3-Mar									COSM3403443	3-Mar	.		ENST00000590202	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000175322	g.chr18:14105942A>G	30574			LOW								--	--	1																																		ZNF519_uc002ksq.1_Intron|ZNF519_uc002ksr.1_Intron|ZNF519_uc010dlm.1_Intron	1	1			p.P199P	NM_145287	NP_660330			1	ZN519_HUMAN	ZNF519	HGNC	Q8TB69	ZN519_HUMAN					3	750	-			UPI0000201A41	199			C2H2-type 1; degenerate.		SNV	ZNF519,synonymous_variant,p.=,ENST00000590202,NM_145287.3;ZNF519,intron_variant,,ENST00000589498,;RP11-411B10.3,downstream_gene_variant,,ENST00000592926,;ZNF519,intron_variant,,ENST00000589203,;ZNF519,intron_variant,,ENST00000591393,;ZNF519,intron_variant,,ENST00000592345,;ZNF519,intron_variant,,ENST00000592411,;ZNF519,intron_variant,,ENST00000592049,;ZNF519,downstream_gene_variant,,ENST00000588435,;ZNF519,intron_variant,,ENST00000587419,;	uc002kst.1	c.597T>C	750/1972	4	4			c.597T>C						18	SNP	c.(595-597)CCT>CCC	17	17				0	Broad	zinc finger protein 519			14105942		0.284	ENSG00000175322	17704	g.chr18:14105942A>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-21.48084	KEEP	1	2	-1	58	61	1	2	-1	7.097049	58	61	0.026087	1	0	0	0	0	0	0	1	0	--	--		0	G			ZNF519_uc002ksq.1_Intron|ZNF519_uc002ksr.1_Intron|ZNF519_uc010dlm.1_Intron	237	GBM-32-2495-TP	p.P199P	A	GGATATTTTCAGGGAAAATAA	NM_145287	NP_660330	14105942	Q8TB69	ZN519_HUMAN	0			3	750	-	G	G			Silent	199			C2H2-type 1; degenerate.			
ZNF521	25925	broad.mit.edu	GRCh37	18	22902139	22902139	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0145-01	TCGA-06-0145-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000361524.3:c.53A>G	p.Lys18Arg	p.K18R	ENST00000361524	NM_015461.2	18	aAa/aGa	0			1			C	K/R	uc002kvk.2	protein_coding	YES	CCDS32806.1			53/3936	T		PAX5		ALL				ovary(4)|large_intestine(2)|lung(1)	7	c.(52-54)AAA>AGA			hmmpanther:PTHR24385,hmmpanther:PTHR24385:SF32	zinc finger protein 521				ENSP00000354794		8-Mar									COSM2149714	8-Mar	.		ENST00000361524	Transcript			cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	ENSG00000198795	g.chr18:22902139T>C	24605			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=ZN521_HUMAN&rb=1&re=45&var=K18R	NA	getma.org/?cm=var&var=hg19,18,22902139,T,C&fts=all	K18R	--	--	1																																		ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.K18R|ZNF521_uc002kvl.2_5'UTR	1	1		benign(0.001)	p.K18R	NM_015461	NP_056276		tolerated_low_confidence(0.52)	1	ZN521_HUMAN	ZNF521	HGNC	Q96K83	ZN521_HUMAN			J3QRW6_HUMAN,J3KTI4_HUMAN,J3KT07_HUMAN,J3KSZ4_HUMAN		3	300	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		UPI000006F982	18					SNV	ZNF521,missense_variant,p.Lys18Arg,ENST00000361524,NM_015461.2;ZNF521,missense_variant,p.Lys18Arg,ENST00000538137,;ZNF521,missense_variant,p.Lys18Arg,ENST00000577801,;ZNF521,missense_variant,p.Lys18Arg,ENST00000580488,;ZNF521,missense_variant,p.Lys18Arg,ENST00000577461,;ZNF521,5_prime_UTR_variant,,ENST00000584787,;ZNF521,non_coding_transcript_exon_variant,,ENST00000579111,;ZNF521,non_coding_transcript_exon_variant,,ENST00000582584,;ZNF521,non_coding_transcript_exon_variant,,ENST00000583005,;ZNF521,missense_variant,p.Lys18Arg,ENST00000399425,;ZNF521,non_coding_transcript_exon_variant,,ENST00000583398,;	uc002kvk.2	c.53A>G	202/4871	3	3			c.53A>G	T		PAX5		ALL	18	SNP	c.(52-54)AAA>AGA	53	53			ovary(4)|large_intestine(2)|lung(1)	7	Broad	zinc finger protein 521			22902139		0.423	ENSG00000198795	17705	g.chr18:22902139T>C	cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			266			266	283.890065	KEEP	49	34	-1	68	65	49	34	-1	285.901124	68	65	0.393035	1	0	0	0	0	1	0	0	0	--	--		0	C			ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.K18R|ZNF521_uc002kvl.2_5'UTR	23	GBM-06-0145-TP	p.K18R	T	GTCTTCAAGTTTACAGTTGGG	NM_015461	NP_056276	22902139	Q96K83	ZN521_HUMAN	0			3	300	-	C	C	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		Missense_Mutation	18						
ZNF526	116115	broad.mit.edu	GRCh37	19	42730344	42730344	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-02-2470-01	TCGA-02-2470-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301215.3:c.1789C>G	p.Arg597Gly	p.R597G	ENST00000301215	NM_133444.1	597	Cga/Gga	0			1			G	R/G	uc002osz.1	protein_coding	YES	CCDS12598.1			1789/2013										0	c.(1789-1791)CGA>GGA			PROSITE_profiles:PS50157,hmmpanther:PTHR24375:SF104,hmmpanther:PTHR24375,Superfamily_domains:SSF57667	zinc finger protein 526				ENSP00000301215		3-Mar									COSM2149102	3-Mar	.		ENST00000301215	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000167625	g.chr19:42730344C>G	29415			MODERATE		-0.77	neutral	getma.org/?cm=msa&ty=f&p=ZN526_HUMAN&rb=552&re=618&var=R597G	NA	getma.org/?cm=var&var=hg19,19,42730344,C,G&fts=all	R597G	--	--	1																																			1	1		possibly_damaging(0.453)	p.R597G	NM_133444	NP_597701		tolerated(0.24)	1	ZN526_HUMAN	ZNF526	HGNC	Q8TF50	ZN526_HUMAN			M0R395_HUMAN,H9ZYJ3_HUMAN		3	1945	+		Prostate(69;0.0704)	UPI00001C2011	597					SNV	ZNF526,missense_variant,p.Arg597Gly,ENST00000301215,NM_133444.1;GSK3A,downstream_gene_variant,,ENST00000398249,;GSK3A,downstream_gene_variant,,ENST00000222330,NM_019884.2;ZNF526,downstream_gene_variant,,ENST00000597945,;GSK3A,downstream_gene_variant,,ENST00000453535,;GSK3A,downstream_gene_variant,,ENST00000493059,;	uc002osz.1	c.1789C>G	2014/4023	3	3			c.1789C>G						19	SNP	c.(1789-1791)CGA>GGA	3	3				0	Broad	zinc finger protein 526			42730344		0.612	ENSG00000167625	17707	g.chr19:42730344C>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							37.975361	KEEP	11	13	-1	31	29	11	13	-1	42.087534	31	29	0.246377	1	0	0	0	0	1	0	0	0	--	--		0	G				5	GBM-02-2470-TP	p.R597G	C	GGTCCATGCCCGAGCTCGGAC	NM_133444	NP_597701	42730344	Q8TF50	ZN526_HUMAN	0			3	1945	+	G	G		Prostate(69;0.0704)	Missense_Mutation	597						
ZNF526	116115	broad.mit.edu	GRCh37	19	42730234	42730234	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01	TCGA-06-5859-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301215.3:c.1679C>T	p.Pro560Leu	p.P560L	ENST00000301215	NM_133444.1	560	cCc/cTc	0			1			T	P/L	uc002osz.1	protein_coding	YES	CCDS12598.1			1679/2013										0	c.(1678-1680)CCC>CTC			hmmpanther:PTHR24375:SF104,hmmpanther:PTHR24375	zinc finger protein 526				ENSP00000301215		3-Mar									COSM2153394	3-Mar	.		ENST00000301215	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000167625	g.chr19:42730234C>T	29415			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=ZN526_HUMAN&rb=540&re=571&var=P560L	NA	getma.org/?cm=var&var=hg19,19,42730234,C,T&fts=all	P560L	--	--	1																																			1	1		possibly_damaging(0.84)	p.P560L	NM_133444	NP_597701		tolerated(0.5)	1	ZN526_HUMAN	ZNF526	HGNC	Q8TF50	ZN526_HUMAN			M0R395_HUMAN,H9ZYJ3_HUMAN		3	1835	+		Prostate(69;0.0704)	UPI00001C2011	560					SNV	ZNF526,missense_variant,p.Pro560Leu,ENST00000301215,NM_133444.1;GSK3A,downstream_gene_variant,,ENST00000398249,;GSK3A,downstream_gene_variant,,ENST00000222330,NM_019884.2;ZNF526,downstream_gene_variant,,ENST00000597945,;GSK3A,downstream_gene_variant,,ENST00000453535,;GSK3A,downstream_gene_variant,,ENST00000493059,;	uc002osz.1	c.1679C>T	1904/4023	2	2			c.1679C>T						19	SNP	c.(1678-1680)CCC>CTC	21	21				0	Broad	zinc finger protein 526			42730234		0.652	ENSG00000167625	17707	g.chr19:42730234C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							82.847062	KEEP	20	9	-1	22	24	20	9	-1	83.550946	22	24	0.394366	1	0	0	0	0	1	0	0	0	--	--		0	T				103	GBM-06-5859-TP	p.P560L	C	GCCCGCGCCCCCCGCCTCCCC	NM_133444	NP_597701	42730234	Q8TF50	ZN526_HUMAN	0			3	1835	+	T	T		Prostate(69;0.0704)	Missense_Mutation	560						
ZNF527	0	broad.mit.edu	GRCh37	19	37879435	37879435	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-16-0861-01	TCGA-16-0861-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000436120.2:c.484G>C	p.Asp162His	p.D162H	ENST00000436120	NM_032453.1	162	Gac/Cac	0			1			C	D/H	uc010efk.1	protein_coding	YES	CCDS42559.1			484/1830									ovary(2)	2	c.(484-486)GAC>CAC			hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF71	zinc finger protein 527				ENSP00000390179		5-May									COSM3404169	5-May	.		ENST00000436120	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000189164	g.chr19:37879435G>C	29385			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=ZN527_HUMAN&rb=55&re=254&var=D162H	NA	getma.org/?cm=var&var=hg19,19,37879435,G,C&fts=all	D162H	--	--	1																																		ZNF527_uc002ogf.3_Missense_Mutation_p.D130H|ZNF527_uc010xtq.1_RNA	1	1		benign(0.002)	p.D162H	NM_032453	NP_115829		tolerated(0.22)	1	ZN527_HUMAN	ZNF527	HGNC	Q8NB42	ZN527_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)				5	595	+			UPI00002021F5	162					SNV	ZNF527,missense_variant,p.Asp162His,ENST00000436120,NM_032453.1;ZNF527,missense_variant,p.Asp130His,ENST00000588911,;ZNF527,intron_variant,,ENST00000587349,;ZNF527,downstream_gene_variant,,ENST00000483919,;ZNF527,3_prime_UTR_variant,,ENST00000356178,;ZNF527,3_prime_UTR_variant,,ENST00000588512,;	uc010efk.1	c.484G>C	591/2828	3	3			c.484G>C						19	SNP	c.(484-486)GAC>CAC	1	1			ovary(2)	2	Broad	zinc finger protein 527			37879435		0.378	ENSG00000189164	17708	g.chr19:37879435G>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							179.010161	KEEP	22	33	-1	39	31	22	33	-1	179.539137	39	31	0.428571	1	0	0	0	0	1	0	0	0	--	--		0	C			ZNF527_uc002ogf.3_Missense_Mutation_p.D130H|ZNF527_uc010xtq.1_RNA	156	GBM-16-0861-TP	p.D162H	G	TGGGAAAAGAGACAATGAATT	NM_032453	NP_115829	37879435	Q8NB42	ZN527_HUMAN	0	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	595	+	C	C			Missense_Mutation	162						
ZNF527	0	broad.mit.edu	GRCh37	19	37880558	37880558	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01	TCGA-32-4211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000436120.2:c.1607G>A	p.Ser536Asn	p.S536N	ENST00000436120	NM_032453.1	536	aGt/aAt	0			1			A	S/N	uc010efk.1	protein_coding	YES	CCDS42559.1			1607/1830									ovary(2)	2	c.(1606-1608)AGT>AAT			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF71,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 527				ENSP00000390179		5-May									COSM2157392	5-May	.		ENST00000436120	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000189164	g.chr19:37880558G>A	29385			MODERATE		1.835	low	getma.org/?cm=msa&ty=f&p=ZN527_HUMAN&rb=492&re=557&var=S536N	getma.org/pdb.php?prot=ZN527_HUMAN&from=512&to=537&var=S536N	getma.org/?cm=var&var=hg19,19,37880558,G,A&fts=all	S536N	--	--	1																																		ZNF527_uc002ogf.3_Missense_Mutation_p.S504N|ZNF527_uc010xtq.1_RNA	1	1		benign(0.082)	p.S536N	NM_032453	NP_115829		deleterious(0.04)	1	ZN527_HUMAN	ZNF527	HGNC	Q8NB42	ZN527_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)				5	1718	+			UPI00002021F5	536			C2H2-type 10.		SNV	ZNF527,missense_variant,p.Ser536Asn,ENST00000436120,NM_032453.1;ZNF527,intron_variant,,ENST00000587349,;ZNF527,downstream_gene_variant,,ENST00000483919,;ZNF527,downstream_gene_variant,,ENST00000588911,;ZNF527,3_prime_UTR_variant,,ENST00000356178,;ZNF527,downstream_gene_variant,,ENST00000588512,;	uc010efk.1	c.1607G>A	1714/2828	2	2			c.1607G>A						19	SNP	c.(1606-1608)AGT>AAT	32	32			ovary(2)	2	Broad	zinc finger protein 527			37880558		0.398	ENSG00000189164	17708	g.chr19:37880558G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							164.704881	KEEP	35	29	-1	74	68	35	29	-1	169.953201	74	68	0.318436	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF527_uc002ogf.3_Missense_Mutation_p.S504N|ZNF527_uc010xtq.1_RNA	246	GBM-32-4211-TP	p.S536N	G	AAGGCCTTCAGTTGTGGCTCA	NM_032453	NP_115829	37880558	Q8NB42	ZN527_HUMAN	0	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1718	+	A	A			Missense_Mutation	536			C2H2-type 10.			
ZNF532	0	broad.mit.edu	GRCh37	18	56587754	56587754	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0789-01	TCGA-14-0789-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336078.4:c.2235C>T	p.Asp745=	p.D745=	ENST00000336078	NM_018181.4	745	gaC/gaT	0			1			T	D	uc002lho.2	protein_coding	YES	CCDS11969.1			2235/3906									breast(1)|skin(1)	2	c.(2233-2235)GAC>GAT			hmmpanther:PTHR26374:SF163,hmmpanther:PTHR26374	zinc finger protein 532				ENSP00000338217		11-Apr									COSM3403591	11-Apr	.		ENST00000336078	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000074657	g.chr18:56587754C>T	30940			LOW								--	--	1																																		ZNF532_uc002lhp.2_Silent_p.D743D|ZNF532_uc010xeg.1_Silent_p.D743D|ZNF532_uc002lhr.2_Silent_p.D743D|ZNF532_uc002lhs.2_Silent_p.D743D	1	1			p.D745D	NM_018181	NP_060651			1	ZN532_HUMAN	ZNF532	HGNC	Q9HCE3	ZN532_HUMAN			K7ER18_HUMAN,K7EQW7_HUMAN,K7EPI7_HUMAN,K7EP49_HUMAN,K7EMF9_HUMAN,K7ELB7_HUMAN,K7EL14_HUMAN,K7EKV7_HUMAN,K7EJM2_HUMAN,B4DQV3_HUMAN		4	2782	+			UPI000013D30C	745					SNV	ZNF532,synonymous_variant,p.=,ENST00000336078,NM_018181.4;ZNF532,synonymous_variant,p.=,ENST00000589288,;ZNF532,synonymous_variant,p.=,ENST00000591083,;ZNF532,synonymous_variant,p.=,ENST00000591808,;ZNF532,synonymous_variant,p.=,ENST00000591230,;ZNF532,downstream_gene_variant,,ENST00000588601,;ZNF532,downstream_gene_variant,,ENST00000589481,;ZNF532,downstream_gene_variant,,ENST00000592452,;ZNF532,downstream_gene_variant,,ENST00000591049,;ZNF532,downstream_gene_variant,,ENST00000588456,;ZNF532,downstream_gene_variant,,ENST00000590285,;ZNF532,downstream_gene_variant,,ENST00000590287,;ZNF532,downstream_gene_variant,,ENST00000587755,;ZNF532,downstream_gene_variant,,ENST00000586085,;ZNF532,downstream_gene_variant,,ENST00000588543,;ZNF532,upstream_gene_variant,,ENST00000586997,;ZNF532,synonymous_variant,p.=,ENST00000590157,;ZNF532,synonymous_variant,p.=,ENST00000589156,;	uc002lho.2	c.2235C>T	3011/6696	1	1			c.2235C>T						18	SNP	c.(2233-2235)GAC>GAT	3	3			breast(1)|skin(1)	2	Broad	zinc finger protein 532			56587754		0.483	ENSG00000074657	17712	g.chr18:56587754C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							43.684157	KEEP	14	9	-1	32	31	14	9	-1	49.090452	32	31	0.231707	1	0	0	0	0	0	0	1	0	--	--		0	T			ZNF532_uc002lhp.2_Silent_p.D743D|ZNF532_uc010xeg.1_Silent_p.D743D|ZNF532_uc002lhr.2_Silent_p.D743D|ZNF532_uc002lhs.2_Silent_p.D743D	136	GBM-14-0789-TP	p.D745D	C	TAGATGAAGACCCCTCCAAAC	NM_018181	NP_060651	56587754	Q9HCE3	ZN532_HUMAN	0			4	2782	+	T	T			Silent	745						
ZNF532	0	broad.mit.edu	GRCh37	18	56587257	56587257	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01	TCGA-28-5208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000336078.4:c.1738G>A	p.Val580Met	p.V580M	ENST00000336078	NM_018181.4	580	Gtg/Atg	0	A:0.0002		1			A	V/M	uc002lho.2	protein_coding	YES	CCDS11969.1			1738/3906									breast(1)|skin(1)	2	c.(1738-1740)GTG>ATG			hmmpanther:PTHR26374:SF163,hmmpanther:PTHR26374,Low_complexity_(Seg):seg	zinc finger protein 532			A:0	ENSP00000338217		11-Apr									rs372233148,COSM2880982	11-Apr	.		ENST00000336078	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000074657	g.chr18:56587257G>A	30940			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=ZN532_HUMAN&rb=401&re=600&var=V580M	NA	getma.org/?cm=var&var=hg19,18,56587257,G,A&fts=all	V580M	--	--	1																																		ZNF532_uc002lhp.2_Missense_Mutation_p.V578M|ZNF532_uc010xeg.1_Missense_Mutation_p.V578M|ZNF532_uc002lhr.2_Missense_Mutation_p.V578M|ZNF532_uc002lhs.2_Missense_Mutation_p.V578M	0,1	1		probably_damaging(0.999)	p.V580M	NM_018181	NP_060651		deleterious(0)	0,1	ZN532_HUMAN	ZNF532	HGNC	Q9HCE3	ZN532_HUMAN			K7ER18_HUMAN,K7EQW7_HUMAN,K7EPI7_HUMAN,K7EP49_HUMAN,K7EMF9_HUMAN,K7ELB7_HUMAN,K7EL14_HUMAN,K7EKV7_HUMAN,K7EJM2_HUMAN,B4DQV3_HUMAN		4	2285	+			UPI000013D30C	580					SNV	ZNF532,missense_variant,p.Val580Met,ENST00000336078,NM_018181.4;ZNF532,missense_variant,p.Val580Met,ENST00000589288,;ZNF532,missense_variant,p.Val580Met,ENST00000591083,;ZNF532,missense_variant,p.Val580Met,ENST00000591808,;ZNF532,missense_variant,p.Val580Met,ENST00000591230,;ZNF532,downstream_gene_variant,,ENST00000588601,;ZNF532,downstream_gene_variant,,ENST00000589481,;ZNF532,downstream_gene_variant,,ENST00000592452,;ZNF532,downstream_gene_variant,,ENST00000591049,;ZNF532,downstream_gene_variant,,ENST00000588456,;ZNF532,downstream_gene_variant,,ENST00000590285,;ZNF532,downstream_gene_variant,,ENST00000590287,;ZNF532,downstream_gene_variant,,ENST00000587755,;ZNF532,downstream_gene_variant,,ENST00000586085,;ZNF532,downstream_gene_variant,,ENST00000588543,;ZNF532,upstream_gene_variant,,ENST00000586997,;ZNF532,upstream_gene_variant,,ENST00000590157,;ZNF532,upstream_gene_variant,,ENST00000589156,;	uc002lho.2	c.1738G>A	2514/6696	1	1			c.1738G>A						18	SNP	c.(1738-1740)GTG>ATG	56	56			breast(1)|skin(1)	2	Broad	zinc finger protein 532			56587257		0.522	ENSG00000074657	17712	g.chr18:56587257G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							81.866782	KEEP	13	17	-1	19	25	13	17	-1	82.186518	19	25	0.426471	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF532_uc002lhp.2_Missense_Mutation_p.V578M|ZNF532_uc010xeg.1_Missense_Mutation_p.V578M|ZNF532_uc002lhr.2_Missense_Mutation_p.V578M|ZNF532_uc002lhs.2_Missense_Mutation_p.V578M	217	GBM-28-5208-TP	p.V580M	G	GCAGAGTTCTGTGGTGGAAGC	NM_018181	NP_060651	56587257	Q9HCE3	ZN532_HUMAN	0			4	2285	+	A	A			Missense_Mutation	580						
ZNF532	55205		GRCh37	18	56587377	56587377	+	stop_gained	Nonsense_Mutation	SNP	G	G	T			TCGA-16-1048-01	TCGA-16-1048-01																				ENST00000336078.4:c.1858G>T	p.Glu620Ter	p.E620*	ENST00000336078	NM_018181.4	620	Gag/Tag	0																																																																																																																																																																																																																																												
ZNF534	147658	broad.mit.edu	GRCh37	19	52942496	52942496	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332323.6:c.1822C>T	p.Arg608Ter	p.R608*	ENST00000332323	NM_001143939.1	608	Cga/Tga	0		T:0.0023	1	T:0		T	R/*	uc002pzk.2	protein_coding	YES	CCDS46165.1			1822/2025										0	c.(1822-1824)CGA>TGA			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF187,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 534 isoform 2		T:0		ENSP00000327538	T:0	4-Apr	0.000213	0.000974				0.00088			rs200476034,COSM2152188	4-Apr	common_variant		ENST00000332323	Transcript		T:0.0006	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000198633	g.chr19:52942496C>T	26337			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,19,52942496,C,T&fts=all	R608*	--	--	1																																		ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Nonsense_Mutation_p.R595*	0,1	1			p.R608*	NM_001143939	NP_001137411	T:0		0,1	ZN534_HUMAN	ZNF534	HGNC	Q76KX8	ZN534_HUMAN					4	1883	+			UPI0000351984	608			C2H2-type 15.		SNV	ZNF534,stop_gained,p.Arg608Ter,ENST00000332323,NM_001143939.1;ZNF534,stop_gained,p.Arg595Ter,ENST00000433050,NM_001143938.1;ZNF534,intron_variant,,ENST00000301085,;ZNF534,intron_variant,,ENST00000432303,;	uc002pzk.2	c.1822C>T	1883/2086	5	1			c.1822C>T						19	SNP	c.(1822-1824)CGA>TGA	11	11				0	Broad	zinc finger protein 534 isoform 2			52942496		0.423	ENSG00000198633	17713	g.chr19:52942496C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							13.668466	KEEP	3	3	-1	3	9	3	3	-1	14.313249	3	9	0.294118	1	0	0	0	0	0	1	0	0	--	--		0	T			ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Nonsense_Mutation_p.R595*	73	GBM-06-0877-TP	p.R608*	C	ACACCTTGCGCGACATAGGAA	NM_001143939	NP_001137411	52942496	Q76KX8	ZN534_HUMAN	0			4	1883	+	T	T			Nonsense_Mutation	608			C2H2-type 15.			
ZNF534	0	broad.mit.edu	GRCh37	19	52942354	52942354	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-32-1970-01	TCGA-32-1970-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332323.6:c.1680A>G	p.Glu560=	p.E560=	ENST00000332323	NM_001143939.1	560	gaA/gaG	0			1			G	E	uc002pzk.2	protein_coding	YES	CCDS46165.1			1680/2025										0	c.(1678-1680)GAA>GAG			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF187,Superfamily_domains:SSF57667	zinc finger protein 534 isoform 2				ENSP00000327538		4-Apr									COSM1289154	4-Apr	.		ENST00000332323	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000198633	g.chr19:52942354A>G	26337			LOW								--	--	1																																		ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Silent_p.E547E	1	1			p.E560E	NM_001143939	NP_001137411			1	ZN534_HUMAN	ZNF534	HGNC	Q76KX8	ZN534_HUMAN					4	1741	+			UPI0000351984	560					SNV	ZNF534,synonymous_variant,p.=,ENST00000332323,NM_001143939.1;ZNF534,synonymous_variant,p.=,ENST00000433050,NM_001143938.1;ZNF534,intron_variant,,ENST00000301085,;ZNF534,intron_variant,,ENST00000432303,;	uc002pzk.2	c.1680A>G	1741/2086	3	3			c.1680A>G						19	SNP	c.(1678-1680)GAA>GAG	4	4				0	Broad	zinc finger protein 534 isoform 2			52942354		0.433	ENSG00000198633	17713	g.chr19:52942354A>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							4.504822	KEEP	1	2	-1	11	14	1	2	-1	8.541566	11	14	0.111111	1	0	0	0	0	0	0	1	0	--	--		0	G			ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Silent_p.E547E	228	GBM-32-1970-TP	p.E560E	A	ATACTGGAGAAAAGCCTTACA	NM_001143939	NP_001137411	52942354	Q76KX8	ZN534_HUMAN	0			4	1741	+	G	G			Silent	560						
ZNF534	0	broad.mit.edu	GRCh37	19	52942354	52942354	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-32-2632-01	TCGA-32-2632-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000332323.6:c.1680A>G	p.Glu560=	p.E560=	ENST00000332323	NM_001143939.1	560	gaA/gaG	0			1			G	E	uc002pzk.2	protein_coding	YES	CCDS46165.1			1680/2025										0	c.(1678-1680)GAA>GAG			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF187,Superfamily_domains:SSF57667	zinc finger protein 534 isoform 2				ENSP00000327538		4-Apr									COSM1289154	4-Apr	.		ENST00000332323	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000198633	g.chr19:52942354A>G	26337			LOW								--	--	1																																		ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Silent_p.E547E	1	1			p.E560E	NM_001143939	NP_001137411			1	ZN534_HUMAN	ZNF534	HGNC	Q76KX8	ZN534_HUMAN					4	1741	+			UPI0000351984	560					SNV	ZNF534,synonymous_variant,p.=,ENST00000332323,NM_001143939.1;ZNF534,synonymous_variant,p.=,ENST00000433050,NM_001143938.1;ZNF534,intron_variant,,ENST00000301085,;ZNF534,intron_variant,,ENST00000432303,;	uc002pzk.2	c.1680A>G	1741/2086	3	3			c.1680A>G						19	SNP	c.(1678-1680)GAA>GAG	4	4				0	Broad	zinc finger protein 534 isoform 2			52942354		0.433	ENSG00000198633	17713	g.chr19:52942354A>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							1.093119	KEEP	1	2	-1	22	17	1	2	-1	8.239052	22	17	0.076923	1	0	0	0	0	0	0	1	0	--	--		0	G			ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Silent_p.E547E	240	GBM-32-2632-TP	p.E560E	A	ATACTGGAGAAAAGCCTTACA	NM_001143939	NP_001137411	52942354	Q76KX8	ZN534_HUMAN	0			4	1741	+	G	G			Silent	560						
ZNF536	9745		GRCh37	19	31039823	31039823	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000355537.3:c.3297C>T	p.His1099=	p.H1099=	ENST00000355537	NM_014717.1	1099	caC/caT	0																																																																																																																																																																																																																																												
ZNF540	163255	broad.mit.edu	GRCh37	19	38103381	38103381	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5413-01	TCGA-06-5413-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000592533.1:c.1200G>A	p.Arg400=	p.R400=	ENST00000592533	NM_152606.4	400	cgG/cgA	0			1			A	R	uc002ogq.2	protein_coding		CCDS12506.1			1200/1983									large_intestine(1)	1	c.(1198-1200)CGG>CGA			PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF138,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 540				ENSP00000324598		5-May									COSM3404171	5-May	.		ENST00000316433	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000171817	g.chr19:38103381G>A	25331			LOW								--	--	1																																		ZNF540_uc002ogu.2_Silent_p.R400R|ZNF540_uc010efq.2_Silent_p.R368R	1				p.R400R	NM_152606	NP_689819			1	ZN540_HUMAN	ZNF540	HGNC	Q8NDQ6	ZN540_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		K7EK80_HUMAN		5	1532	+			UPI00000732BB	400			C2H2-type 8.		SNV	ZNF540,synonymous_variant,p.=,ENST00000592533,NM_152606.4;ZNF540,synonymous_variant,p.=,ENST00000316433,NM_001172225.2;ZNF540,synonymous_variant,p.=,ENST00000343599,;ZNF540,synonymous_variant,p.=,ENST00000589117,NM_001172226.2;ZNF540,synonymous_variant,p.=,ENST00000586134,;ZNF540,downstream_gene_variant,,ENST00000586792,;ZNF540,downstream_gene_variant,,ENST00000590588,;ZFP30,downstream_gene_variant,,ENST00000589018,;ZNF540,downstream_gene_variant,,ENST00000589857,;ZNF540,non_coding_transcript_exon_variant,,ENST00000589285,;	uc002ogq.2	c.1200G>A	1482/3099	2	2			c.1200G>A						19	SNP	c.(1198-1200)CGG>CGA	21	21			large_intestine(1)	1	Broad	zinc finger protein 540			38103381		0.373	ENSG00000171817	17715	g.chr19:38103381G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-22.511827	KEEP	1	3	-1	64	69	1	3	-1	6.862536	64	69	0.03252	1	0	0	0	0	0	0	1	0	--	--		0	A			ZNF540_uc002ogu.2_Silent_p.R400R|ZNF540_uc010efq.2_Silent_p.R368R	96	GBM-06-5413-TP	p.R400R	G	AGCTTAATCGGCATAAAACAA	NM_152606	NP_689819	38103381	Q8NDQ6	ZN540_HUMAN	0	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1532	+	A	A			Silent	400			C2H2-type 8.			
ZNF540	0	broad.mit.edu	GRCh37	19	38103690	38103690	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-26-5134-01	TCGA-26-5134-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316433.4:c.1509C>T	p.Thr503=	p.T503=	ENST00000316433	NM_001172225.2	503	acC/acT	0			1			T	T	uc002ogq.2	protein_coding		CCDS12506.1			1509/1983									large_intestine(1)	1	c.(1507-1509)ACC>ACT			PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF138,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	zinc finger protein 540				ENSP00000324598		5-May									COSM2157027	5-May	.		ENST00000316433	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000171817	g.chr19:38103690C>T	25331			LOW								--	--	1																																		ZNF540_uc002ogu.2_Silent_p.T503T|ZNF540_uc010efq.2_Silent_p.T471T	1				p.T503T	NM_152606	NP_689819			1	ZN540_HUMAN	ZNF540	HGNC	Q8NDQ6	ZN540_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		K7EK80_HUMAN		5	1841	+			UPI00000732BB	503			C2H2-type 12.		SNV	ZNF540,synonymous_variant,p.=,ENST00000592533,NM_152606.4;ZNF540,synonymous_variant,p.=,ENST00000316433,NM_001172225.2;ZNF540,synonymous_variant,p.=,ENST00000343599,;ZNF540,synonymous_variant,p.=,ENST00000589117,NM_001172226.2;ZNF540,synonymous_variant,p.=,ENST00000586134,;ZNF540,downstream_gene_variant,,ENST00000586792,;ZNF540,downstream_gene_variant,,ENST00000590588,;ZFP30,downstream_gene_variant,,ENST00000589018,;ZNF540,downstream_gene_variant,,ENST00000589857,;ZNF540,non_coding_transcript_exon_variant,,ENST00000589285,;	uc002ogq.2	c.1509C>T	1791/3099	2	2			c.1509C>T						19	SNP	c.(1507-1509)ACC>ACT	46	46			large_intestine(1)	1	Broad	zinc finger protein 540			38103690		0.393	ENSG00000171817	17715	g.chr19:38103690C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							294.301789	KEEP	44	48	-1	76	73	44	48	-1	296.350381	76	73	0.39823	1	0	0	0	0	0	0	1	0	--	--		0	T			ZNF540_uc002ogu.2_Silent_p.T503T|ZNF540_uc010efq.2_Silent_p.T471T	183	GBM-26-5134-TP	p.T503T	C	GTGGGAAGACCTTTAGATTTG	NM_152606	NP_689819	38103690	Q8NDQ6	ZN540_HUMAN	0	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1841	+	T	T			Silent	503			C2H2-type 12.			
ZNF543	0	broad.mit.edu	GRCh37	19	57840542	57840542	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01	TCGA-32-1982-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321545.4:c.1712C>T	p.Pro571Leu	p.P571L	ENST00000321545	NM_213598.3	571	cCt/cTt	0			1			T	P/L	uc002qoi.1	protein_coding	YES	CCDS33130.1			1712/1803									skin(1)|pancreas(1)	2	c.(1711-1713)CCT>CTT				zinc finger protein 543				ENSP00000322545		4-Apr									COSM3404706	4-Apr	.		ENST00000321545	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000178229	g.chr19:57840542C>T	25281			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=ZN543_HUMAN&rb=547&re=600&var=P571L	NA	getma.org/?cm=var&var=hg19,19,57840542,C,T&fts=all	P571L	--	--	1																																			1	1		benign(0.245)	p.P571L	NM_213598	NP_998763		deleterious(0)	1	ZN543_HUMAN	ZNF543	HGNC	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)			4	2057	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	UPI00001D8197	571					SNV	ZNF543,missense_variant,p.Pro571Leu,ENST00000321545,NM_213598.3;	uc002qoi.1	c.1712C>T	2057/3659	1	1			c.1712C>T						19	SNP	c.(1711-1713)CCT>CTT	9	9			skin(1)|pancreas(1)	2	Broad	zinc finger protein 543			57840542		0.418	ENSG00000178229	17716	g.chr19:57840542C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-42.071905	KEEP	2	3	-1	89	120	2	3	-1	9.389069	89	120	0.02439	1	0	0	0	0	1	0	0	0	--	--		0	T				232	GBM-32-1982-TP	p.P571L	C	GTGGGAAGACCTTTTATGACT	NM_213598	NP_998763	57840542	Q08ER8	ZN543_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	2057	+	T	T		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	Missense_Mutation	571						
ZNF544	27300	broad.mit.edu	GRCh37	19	58772416	58772416	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0939-01	TCGA-06-0939-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000269829.4:c.444G>C	p.Glu148Asp	p.E148D	ENST00000269829	NM_014480.2	148	gaG/gaC	0			1			C	E/D	uc010euo.2	protein_coding	YES	CCDS12973.1			444/2148									pancreas(1)	1	c.(442-444)GAG>GAC			hmmpanther:PTHR24377	zinc finger protein 544				ENSP00000269829		7-Jul									COSM3404724	7-Jul	.		ENST00000269829	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000198131	g.chr19:58772416G>C	16759			MODERATE		0.625	neutral	getma.org/?cm=msa&ty=f&p=ZN544_HUMAN&rb=55&re=254&var=E148D	NA	getma.org/?cm=var&var=hg19,19,58772416,G,C&fts=all	E148D	--	--	1																																		ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Missense_Mutation_p.E120D|ZNF544_uc010yhy.1_Missense_Mutation_p.E120D|ZNF544_uc002qrt.3_Missense_Mutation_p.E6D|ZNF544_uc002qru.3_Missense_Mutation_p.E6D|uc002qrx.1_Intron	1	1		benign(0.074)	p.E148D	NM_014480	NP_055295		tolerated(0.14)	1	ZN544_HUMAN	ZNF544	HGNC	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	O14844_HUMAN,M0QY11_HUMAN		7	918	+		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	UPI000013D856	148					SNV	ZNF544,missense_variant,p.Glu148Asp,ENST00000269829,NM_014480.2;ZNF544,missense_variant,p.Glu120Asp,ENST00000600220,;ZNF544,missense_variant,p.Glu148Asp,ENST00000596652,;ZNF544,missense_variant,p.Glu120Asp,ENST00000600044,;ZNF544,missense_variant,p.Glu120Asp,ENST00000415203,;ZNF544,missense_variant,p.Glu6Asp,ENST00000599953,;ZNF544,3_prime_UTR_variant,,ENST00000599227,;ZNF544,3_prime_UTR_variant,,ENST00000596825,;ZNF544,intron_variant,,ENST00000595981,;ZNF544,intron_variant,,ENST00000596929,;ZNF544,downstream_gene_variant,,ENST00000594384,;CTD-3138B18.5,intron_variant,,ENST00000597230,;ZNF544,non_coding_transcript_exon_variant,,ENST00000598880,;ZNF544,3_prime_UTR_variant,,ENST00000596677,;CTD-3138B18.4,intron_variant,,ENST00000600029,;	uc010euo.2	c.444G>C	918/3512	3	3			c.444G>C						19	SNP	c.(442-444)GAG>GAC	4	4			pancreas(1)	1	Broad	zinc finger protein 544			58772416		0.448	ENSG00000198131	17717	g.chr19:58772416G>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-17.773206	KEEP	2	2	-1	51	58	2	2	-1	7.629133	51	58	0.028846	1	0	0	0	0	1	0	0	0	--	--		0	C			ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Missense_Mutation_p.E120D|ZNF544_uc010yhy.1_Missense_Mutation_p.E120D|ZNF544_uc002qrt.3_Missense_Mutation_p.E6D|ZNF544_uc002qru.3_Missense_Mutation_p.E6D|uc002qrx.1_Intron	78	GBM-06-0939-TP	p.E148D	G	TCACCTCAGAGAGACTGTTTG	NM_014480	NP_055295	58772416	Q6NX49	ZN544_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	7	918	+	C	C		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	Missense_Mutation	148						
ZNF546	339327	broad.mit.edu	GRCh37	19	40520966	40520969	+	frameshift_variant	Frame_Shift_Del	DEL	ACTC	ACTC	-			TCGA-06-0209-01	TCGA-06-0209-01	ACTC	ACTC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000347077.4:c.1790_1793del	p.Thr597AsnfsTer172	p.T597Nfs*172	ENST00000347077	NM_178544.3	597	ACTCaa/aa	0			1			-	TQ/X	uc002oms.2	protein_coding	YES	CCDS12548.1			1789-1792/2511									ovary(1)|breast(1)|skin(1)	3	c.(1789-1794)ACTCAAfs			PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF142,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 546				ENSP00000339823		7-Jul										7-Jul	.		ENST00000347077	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000187187	g.chr19:40520966_40520969delACTC	28671	1		HIGH								--	--	1																																		ZNF546_uc002omt.2_Frame_Shift_Del_p.T571fs		1			p.T597fs	NM_178544	NP_848639				ZN546_HUMAN	ZNF546	HGNC	Q86UE3	ZN546_HUMAN			M0R292_HUMAN,M0QXR6_HUMAN		7	2045_2048	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		UPI00001984E3	597_598			C2H2-type 14.		deletion	ZNF546,frameshift_variant,p.Thr597AsnfsTer172,ENST00000347077,NM_178544.3;ZNF546,frameshift_variant,p.Thr571AsnfsTer172,ENST00000600094,;ZNF546,intron_variant,,ENST00000596894,;ZNF546,downstream_gene_variant,,ENST00000599504,;ZNF546,downstream_gene_variant,,ENST00000601138,;	uc002oms.2	c.1789_1792delACTC	2005-2008/4553	5	5			c.1789_1792delACTC						19	DEL	c.(1789-1794)ACTCAAfs	58	58			ovary(1)|breast(1)|skin(1)	3	Broad	zinc finger protein 546			40520969		0.353	ENSG00000187187	17718	g.chr19:40520966_40520969delACTC	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding																				0.12	1	1	0	1	0	0	0	0	0	--	--		0	-			ZNF546_uc002omt.2_Frame_Shift_Del_p.T571fs	46	GBM-06-0209-TP	p.T597fs	ACTC	CTATAATCTTACTCAACATTTTAA	NM_178544	NP_848639	40520966	Q86UE3	ZN546_HUMAN	0			7	2045_2048	+	-	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		Frame_Shift_Del	597_598			C2H2-type 14.			
ZNF546	0	broad.mit.edu	GRCh37	19	40521654	40521656	+	inframe_deletion	In_Frame_Del	DEL	ATC	ATC	-			TCGA-14-0789-01	TCGA-14-0789-01	ATC	ATC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000347077.4:c.2479_2481delCAT	p.His827del	p.H827del	ENST00000347077	NM_178544.3	826	aATCat/aat	0			1			-	NH/N	uc002oms.2	protein_coding	YES	CCDS12548.1			2477-2479/2511									ovary(1)|breast(1)|skin(1)	3	c.(2476-2481)AATCAT>AAT			PROSITE_profiles:PS50157,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355	zinc finger protein 546				ENSP00000339823		7-Jul										7-Jul	.		ENST00000347077	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000187187	g.chr19:40521654_40521656delATC	28671	2		MODERATE								--	--	1																																		ZNF546_uc002omt.2_In_Frame_Del_p.H801del		1			p.H827del	NM_178544	NP_848639				ZN546_HUMAN	ZNF546	HGNC	Q86UE3	ZN546_HUMAN			M0R292_HUMAN,M0QXR6_HUMAN		7	2733_2735	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		UPI00001984E3	827			C2H2-type 22.		deletion	ZNF546,inframe_deletion,p.His827del,ENST00000347077,NM_178544.3;ZNF546,inframe_deletion,p.His801del,ENST00000600094,;ZNF546,intron_variant,,ENST00000596894,;ZNF546,downstream_gene_variant,,ENST00000599504,;ZNF546,downstream_gene_variant,,ENST00000601138,;CTC-471F3.6,upstream_gene_variant,,ENST00000593658,;	uc002oms.2	c.2477_2479delATC	2693-2695/4553	5	5			c.2477_2479delATC						19	DEL	c.(2476-2481)AATCAT>AAT	45	45			ovary(1)|breast(1)|skin(1)	3	Broad	zinc finger protein 546			40521656		0.33	ENSG00000187187	17718	g.chr19:40521654_40521656delATC	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding																				0.2	1	1	0	1	0	0	0	0	0	--	--		0	-			ZNF546_uc002omt.2_In_Frame_Del_p.H801del	136	GBM-14-0789-TP	p.H827del	ATC	CATCAGAGAAATCATATTAGTGA	NM_178544	NP_848639	40521654	Q86UE3	ZN546_HUMAN	0			7	2733_2735	+	-	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		In_Frame_Del	827			C2H2-type 22.			
ZNF552	79818	broad.mit.edu	GRCh37	19	58319417	58319417	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0214-01	TCGA-06-0214-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000391701.1:c.1215G>A	p.Lys405=	p.K405=	ENST00000391701	NM_024762.3	405	aaG/aaA	0			1			T	K	uc002qqg.2	protein_coding	YES	CCDS12963.1			1215/1224										0	c.(1213-1215)AAG>AAA			PROSITE_profiles:PS50157	zinc finger protein 552				ENSP00000375582		3-Mar									COSM3404715	3-Mar	.		ENST00000391701	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000178935	g.chr19:58319417C>T	26135			LOW								--	--	1																																		ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.1_Silent_p.K401K	1	1			p.K405K	NM_024762	NP_079038			1	ZN552_HUMAN	ZNF552	HGNC	Q9H707	ZN552_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)			3	1385	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	UPI0000202D72	405					SNV	ZNF552,synonymous_variant,p.=,ENST00000391701,NM_024762.3;ZNF586,intron_variant,,ENST00000599802,;ZNF586,intron_variant,,ENST00000598885,;ZNF552,intron_variant,,ENST00000594473,;ZNF552,3_prime_UTR_variant,,ENST00000596248,;	uc002qqg.2	c.1215G>A	1385/2352	1	1			c.1215G>A						19	SNP	c.(1213-1215)AAG>AAA	9	9				0	Broad	zinc finger protein 552			58319417		0.398	ENSG00000178935	17724	g.chr19:58319417C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							166.876005	KEEP	30	31	-1	74	71	30	31	-1	174.05088	74	71	0.291892	1	0	0	0	0	0	0	1	0	--	--		0	T			ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.1_Silent_p.K401K	50	GBM-06-0214-TP	p.K405K	C	CTCATAAGCCCTTTCTTTTGT	NM_024762	NP_079038	58319417	Q9H707	ZN552_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	3	1385	-	T	T		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	Silent	405						
ZNF554	0	broad.mit.edu	GRCh37	19	2834236	2834236	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01	TCGA-28-5204-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317243.5:c.1003C>T	p.Arg335Trp	p.R335W	ENST00000317243	NM_001102651.1	335	Cgg/Tgg	0			1			T	R/W	uc002lwm.2	protein_coding	YES	CCDS42462.1			1003/1617									ovary(1)	1	c.(1003-1005)CGG>TGG			Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF56,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	zinc finger protein 554				ENSP00000321132		5-May	0.000198		0.00191			1.50E-05		6.06E-05	rs755248411,COSM3404069	5-May	common_variant		ENST00000317243	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000172006	g.chr19:2834236C>T	26629			MODERATE		1.815	low	getma.org/?cm=msa&ty=f&p=ZN554_HUMAN&rb=304&re=366&var=R335W	getma.org/pdb.php?prot=ZN554_HUMAN&from=324&to=346&var=R335W	getma.org/?cm=var&var=hg19,19,2834236,C,T&fts=all	R335W	--	--	1																																		ZNF554_uc002lwl.2_Missense_Mutation_p.R284W	0,1	1		probably_damaging(0.991)	p.R335W	NM_001102651	NP_001096121		deleterious(0.04)	0,1	ZN554_HUMAN	ZNF554	HGNC	Q86TJ5	ZN554_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)			5	1201	+		Hepatocellular(1079;0.137)	UPI000000DC5D	335			C2H2-type 2.		SNV	ZNF554,missense_variant,p.Arg335Trp,ENST00000317243,NM_001102651.1;ZNF554,downstream_gene_variant,,ENST00000591265,;ZNF554,3_prime_UTR_variant,,ENST00000590116,;ZNF554,non_coding_transcript_exon_variant,,ENST00000588534,;	uc002lwm.2	c.1003C>T	1201/2736	2	2			c.1003C>T						19	SNP	c.(1003-1005)CGG>TGG	17	17			ovary(1)	1	Broad	zinc finger protein 554			2834236		0.532	ENSG00000172006	17725	g.chr19:2834236C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							254.059334	KEEP	42	54	-1	53	66	42	54	-1	254.583021	53	66	0.445	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF554_uc002lwl.2_Missense_Mutation_p.R284W	215	GBM-28-5204-TP	p.R335W	C	GGTGTTCAACCGGAGGCATTC	NM_001102651	NP_001096121	2834236	Q86TJ5	ZN554_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1201	+	T	T		Hepatocellular(1079;0.137)	Missense_Mutation	335			C2H2-type 2.			
ZNF556	0	broad.mit.edu	GRCh37	19	2877814	2877814	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-2502-01	TCGA-28-2502-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307635.2:c.858G>A	p.Pro286=	p.P286=	ENST00000307635	NM_024967.1	286	ccG/ccA	0	A:0	A:0	1	A:0		A	P	uc002lwp.1	protein_coding	YES	CCDS12097.1			858/1371									skin(3)	3	c.(856-858)CCG>CCA			Gene3D:3.30.160.60,Pfam_domain:PF13912,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF142,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	zinc finger protein 556		A:0.001	A:0.0001	ENSP00000302603	A:0	4-Apr	7.41E-05					0.000135			rs377206346,COSM3371246	4-Apr	.		ENST00000307635	Transcript		A:0.0002	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000172000	g.chr19:2877814G>A	25669			LOW								--	--	1																																		ZNF556_uc002lwq.2_Silent_p.P285P	0,1	1			p.P286P	NM_024967	NP_079243	A:0		0,1	ZN556_HUMAN	ZNF556	HGNC	Q9HAH1	ZN556_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)			4	945	+			UPI000006DA0F	286					SNV	ZNF556,synonymous_variant,p.=,ENST00000586426,;ZNF556,synonymous_variant,p.=,ENST00000307635,NM_024967.1;ZNF556,downstream_gene_variant,,ENST00000586470,;AC006130.4,upstream_gene_variant,,ENST00000586202,;	uc002lwp.1	c.858G>A	945/1632	2	2			c.858G>A						19	SNP	c.(856-858)CCG>CCA	20	20			skin(3)	3	Broad	zinc finger protein 556			2877814		0.517	ENSG00000172000	17727	g.chr19:2877814G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							40.130896	KEEP	10	13	-1	68	50	10	13	-1	54.655741	68	50	0.162963	1	0	0	0	0	0	0	1	0	--	--		0	A			ZNF556_uc002lwq.2_Silent_p.P285P	210	GBM-28-2502-TP	p.P286P	G	GAGGGAGACCGTATGAGTGCA	NM_024967	NP_079243	2877814	Q9HAH1	ZN556_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	945	+	A	A			Silent	286						
ZNF556	80032		GRCh37	19	2877392	2877392	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000307635.2:c.436C>T	p.Arg146Trp	p.R146W	ENST00000307635	NM_024967.1	146	Cgg/Tgg	0																																																																																																																																																																																																																																												
ZNF556	80032		GRCh37	19	2878077	2878077	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000307635.2:c.1121C>T	p.Thr374Met	p.T374M	ENST00000307635	NM_024967.1	374	aCg/aTg	0																																																																																																																																																																																																																																												
ZNF563	147837	broad.mit.edu	GRCh37	19	12430217	12430217	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0126-01	TCGA-06-0126-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000293725.5:c.622del	p.Trp208GlyfsTer62	p.W208Gfs*62	ENST00000293725	NM_145276.2	208	Tgg/gg	0			1			-	W/X	uc002mtp.2	protein_coding	YES	CCDS12270.1			622/1431										0	c.(622-624)TGGfs			Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF14,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	zinc finger protein 563				ENSP00000293725		4-Apr									rs762022543,COSM1390557	4-Apr	.		ENST00000293725	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000188868	g.chr19:12430217delA	30498			HIGH								--	--	1																																		ZNF563_uc002mtq.2_Intron	0,1	1			p.W208fs	NM_145276	NP_660319			0,1	ZN563_HUMAN	ZNF563	HGNC	Q8TA94	ZN563_HUMAN			M0R1Q6_HUMAN		4	860	-			UPI0000072E62	208			C2H2-type 3.		deletion	ZNF563,frameshift_variant,p.Trp208GlyfsTer62,ENST00000293725,NM_145276.2;ZNF563,frameshift_variant,p.Trp120GlyfsTer62,ENST00000594577,;ZNF563,intron_variant,,ENST00000595977,;ZNF563,downstream_gene_variant,,ENST00000601858,;	uc002mtp.2	c.622delT	828/2754	5	5			c.622delT						19	DEL	c.(622-624)TGGfs	21	21				0	Broad	zinc finger protein 563			12430217		0.393	ENSG00000188868	17734	g.chr19:12430217delA	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	GBM(39;623 795 5132 29510 31476)			GBM(39;623 795 5132 29510 31476)																0.02	1	1	0	1	0	0	0	0	0	--	--		0	-			ZNF563_uc002mtq.2_Intron	13	GBM-06-0126-TP	p.W208fs	A	AAACTGGGCCAAAAAAAAGCT	NM_145276	NP_660319	12430217	Q8TA94	ZN563_HUMAN	0			4	860	-	-	-			Frame_Shift_Del	208			C2H2-type 3.			
ZNF563	147837		GRCh37	19	12430217	12430217	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000293725.5:c.622del	p.Trp208GlyfsTer62	p.W208Gfs*62	ENST00000293725	NM_145276.2	208	Tgg/gg	0																																																																																																																																																																																																																																												
ZNF564	0	broad.mit.edu	GRCh37	19	12638084	12638084	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5214-01	TCGA-28-5214-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000339282.7:c.838C>T	p.Pro280Ser	p.P280S	ENST00000339282	NM_144976.3	280	Ccc/Tcc	0			1			A	P/S	uc002mty.2	protein_coding	YES	CCDS42505.1			838/1662									ovary(1)	1	c.(838-840)CCC>TCC			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF10,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	zinc finger protein 564				ENSP00000340004		4-Apr									COSM3403774	4-Apr	.		ENST00000339282	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000249709	g.chr19:12638084G>A	31106			MODERATE		1.85	low	getma.org/?cm=msa&ty=f&p=ZN564_HUMAN&rb=247&re=312&var=P280S	getma.org/pdb.php?prot=ZN564_HUMAN&from=267&to=292&var=P280S	getma.org/?cm=var&var=hg19,19,12638084,G,A&fts=all	P280S	--	--	1																																		ZNF709_uc002mtx.3_Intron	1	1		probably_damaging(0.992)	p.P280S	NM_144976	NP_659413		deleterious(0.02)	1	ZN564_HUMAN	ZNF564	HGNC	Q8TBZ8	ZN564_HUMAN			M0QZN8_HUMAN		4	1048	-			UPI0000051C17	280					SNV	ZNF564,missense_variant,p.Pro280Ser,ENST00000339282,NM_144976.3;ZNF709,intron_variant,,ENST00000428311,;ZNF564,downstream_gene_variant,,ENST00000596193,;CTD-2192J16.21,downstream_gene_variant,,ENST00000601420,;CTD-2192J16.20,3_prime_UTR_variant,,ENST00000593682,;ZNF564,downstream_gene_variant,,ENST00000427105,;	uc002mty.2	c.838C>T	1035/2935	2	2			c.838C>T						19	SNP	c.(838-840)CCC>TCC	24	24			ovary(1)	1	Broad	zinc finger protein 564			12638084		0.403	ENSG00000249709	17735	g.chr19:12638084G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							61.296283	KEEP	22	13	-1	97	104	22	13	-1	87.460075	97	104	0.153509	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF709_uc002mtx.3_Intron	221	GBM-28-5214-TP	p.P280S	G	CATTCATGGGGTTTCTCTCCA	NM_144976	NP_659413	12638084	Q8TBZ8	ZN564_HUMAN	0			4	1048	-	A	A			Missense_Mutation	280						
ZNF565	0	broad.mit.edu	GRCh37	19	36673611	36673611	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-19-1790-01	TCGA-19-1790-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000355114.5:c.1377C>T	p.Tyr459=	p.Y459=	ENST00000355114		459	taC/taT	0			1			A	Y	uc002odn.2	protein_coding					1377/1620									ovary(1)|skin(1)	2	c.(1255-1257)TAC>TAT			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF70,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	zinc finger protein 565				ENSP00000347234		5-May	8.24E-06					1.50E-05			rs774051105,COSM2156117	5-May	.		ENST00000355114	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000196357	g.chr19:36673611G>A	26726			LOW								--	--	1																																		ZNF565_uc010ees.2_Silent_p.Y354Y|ZNF565_uc002odo.2_Silent_p.Y419Y	0,1				p.Y419Y	NM_152477	NP_689690			0,1		ZNF565	HGNC	Q8N9K5	ZN565_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.206)		K7ESE2_HUMAN,K7EL42_HUMAN,B3KQ35_HUMAN		5	1365	-	Esophageal squamous(110;0.162)		UPI000013E93D	419			C2H2-type 10.		SNV	ZNF565,synonymous_variant,p.=,ENST00000355114,;ZNF565,synonymous_variant,p.=,ENST00000392173,NM_001042474.1;ZNF565,synonymous_variant,p.=,ENST00000304116,NM_152477.3;ZNF565,downstream_gene_variant,,ENST00000591473,;	uc002odn.2	c.1257C>T	2104/2519	2	2			c.1257C>T						19	SNP	c.(1255-1257)TAC>TAT	34	34			ovary(1)|skin(1)	2	Broad	zinc finger protein 565			36673611		0.448	ENSG00000196357	17736	g.chr19:36673611G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							71.842845	KEEP	19	21	-1	56	76	19	21	-1	83.209271	56	76	0.210884	1	0	0	0	0	0	0	1	0	--	--		0	A			ZNF565_uc010ees.2_Silent_p.Y354Y|ZNF565_uc002odo.2_Silent_p.Y419Y	160	GBM-19-1790-TP	p.Y419Y	G	CCTTACATTCGTAGGGTTTGT	NM_152477	NP_689690	36673611	Q8N9K5	ZN565_HUMAN	0	LUSC - Lung squamous cell carcinoma(66;0.206)		5	1365	-	A	A	Esophageal squamous(110;0.162)		Silent	419			C2H2-type 10.			
ZNF569	148266	broad.mit.edu	GRCh37	19	37904719	37904719	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-02-2483-01	TCGA-02-2483-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316950.6:c.841C>A	p.Gln281Lys	p.Q281K	ENST00000316950	NM_152484.2	281	Cag/Aag	0			1			T	Q/K	uc002ogi.2	protein_coding	YES	CCDS12503.1			841/2061									breast(2)|skin(1)	3	c.(841-843)CAG>AAG			PROSITE_profiles:PS50157,hmmpanther:PTHR24375:SF68,hmmpanther:PTHR24375,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 569				ENSP00000325018		6-Jun									COSM3748056	6-Jun	.		ENST00000316950	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000196437	g.chr19:37904719G>T	24737			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=ZN569_HUMAN&rb=236&re=301&var=Q281K	getma.org/pdb.php?prot=ZN569_HUMAN&from=256&to=281&var=Q281K	getma.org/?cm=var&var=hg19,19,37904719,G,T&fts=all	Q281K	--	--	1																																		ZNF569_uc002ogh.2_Missense_Mutation_p.Q122K|ZNF569_uc002ogj.2_Missense_Mutation_p.Q305K	1	1		probably_damaging(0.992)	p.Q281K	NM_152484	NP_689697		tolerated(0.21)	1	ZN569_HUMAN	ZNF569	HGNC	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		Q17RR6_HUMAN		6	1399	-			UPI0000202203	281			C2H2-type 4.		SNV	ZNF569,missense_variant,p.Gln281Lys,ENST00000316950,NM_152484.2;ZNF569,missense_variant,p.Gln281Lys,ENST00000392149,;ZNF569,missense_variant,p.Gln122Lys,ENST00000392150,;ZNF569,downstream_gene_variant,,ENST00000448051,;ZNF569,downstream_gene_variant,,ENST00000592490,;	uc002ogi.2	c.841C>A	1399/4061	2	2			c.841C>A						19	SNP	c.(841-843)CAG>AAG	30	30			breast(2)|skin(1)	3	Broad	zinc finger protein 569			37904719		0.358	ENSG00000196437	17740	g.chr19:37904719G>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-32.922427	KEEP	2	4	0.333333333	95	101	2	4	0.333333333	11.846485	95	101	0.032086	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF569_uc002ogh.2_Missense_Mutation_p.Q122K|ZNF569_uc002ogj.2_Missense_Mutation_p.Q305K	6	GBM-02-2483-TP	p.Q281K	G	TTTGATTTCTGGCTGAAGGAC	NM_152484	NP_689697	37904719	Q5MCW4	ZN569_HUMAN	0	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1399	-	T	T			Missense_Mutation	281			C2H2-type 4.			
ZNF569	0	broad.mit.edu	GRCh37	19	37904887	37904887	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-12-3650-01	TCGA-12-3650-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316950.6:c.673C>G	p.His225Asp	p.H225D	ENST00000316950	NM_152484.2	225	Cac/Gac	0			1			C	H/D	uc002ogi.2	protein_coding	YES	CCDS12503.1			673/2061									breast(2)|skin(1)	3	c.(673-675)CAC>GAC			PROSITE_profiles:PS50157,hmmpanther:PTHR24375:SF68,hmmpanther:PTHR24375,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	zinc finger protein 569				ENSP00000325018		6-Jun									COSM3404170	6-Jun	.		ENST00000316950	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000196437	g.chr19:37904887G>C	24737			MODERATE		0.04	neutral	getma.org/?cm=msa&ty=f&p=ZN569_HUMAN&rb=180&re=245&var=H225D	getma.org/pdb.php?prot=ZN569_HUMAN&from=200&to=225&var=H225D	getma.org/?cm=var&var=hg19,19,37904887,G,C&fts=all	H225D	--	--	1																																		ZNF569_uc002ogh.2_Missense_Mutation_p.H66D|ZNF569_uc002ogj.2_Missense_Mutation_p.H249D	1	1		benign(0.111)	p.H225D	NM_152484	NP_689697		tolerated(0.22)	1	ZN569_HUMAN	ZNF569	HGNC	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		Q17RR6_HUMAN		6	1231	-			UPI0000202203	225			C2H2-type 2.		SNV	ZNF569,missense_variant,p.His225Asp,ENST00000316950,NM_152484.2;ZNF569,missense_variant,p.His225Asp,ENST00000392149,;ZNF569,missense_variant,p.His66Asp,ENST00000392150,;ZNF569,missense_variant,p.His249Asp,ENST00000448051,;ZNF569,downstream_gene_variant,,ENST00000592490,;	uc002ogi.2	c.673C>G	1231/4061	4	4			c.673C>G						19	SNP	c.(673-675)CAC>GAC	44	44			breast(2)|skin(1)	3	Broad	zinc finger protein 569			37904887		0.348	ENSG00000196437	17740	g.chr19:37904887G>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							170.972272	KEEP	23	29	-1	65	56	23	29	-1	176.894458	65	56	0.301775	1	0	0	0	0	1	0	0	0	--	--		0	C			ZNF569_uc002ogh.2_Missense_Mutation_p.H66D|ZNF569_uc002ogj.2_Missense_Mutation_p.H249D	126	GBM-12-3650-TP	p.H225D	G	TTTTCCTTGTGACTGAAGGCT	NM_152484	NP_689697	37904887	Q5MCW4	ZN569_HUMAN	0	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1231	-	C	C			Missense_Mutation	225			C2H2-type 2.			
ZNF569	0	broad.mit.edu	GRCh37	19	37903536	37903536	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01	TCGA-14-1395-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000316950.6:c.2024C>T	p.Ser675Leu	p.S675L	ENST00000316950	NM_152484.2	675	tCg/tTg	0		A:0	1	A:0		A	S/L	uc002ogi.2	protein_coding	YES	CCDS12503.1			2024/2061									breast(2)|skin(1)	3	c.(2023-2025)TCG>TTG			PROSITE_profiles:PS50157,hmmpanther:PTHR24375:SF68,hmmpanther:PTHR24375,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 569		A:0.001		ENSP00000325018	A:0	6-Jun	8.24E-06					1.52E-05			rs545354210,COSM995717	6-Jun	.		ENST00000316950	Transcript		A:0.0002	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000196437	g.chr19:37903536G>A	24737			MODERATE		2.5	medium	getma.org/?cm=msa&ty=f&p=ZN569_HUMAN&rb=644&re=686&var=S675L	getma.org/pdb.php?prot=ZN569_HUMAN&from=674&to=686&var=S675L	getma.org/?cm=var&var=hg19,19,37903536,G,A&fts=all	S675L	--	--	1																																		ZNF569_uc002ogh.2_Missense_Mutation_p.S516L|ZNF569_uc002ogj.2_Missense_Mutation_p.S699L	0,1	1		probably_damaging(0.984)	p.S675L	NM_152484	NP_689697	A:0	tolerated(0.05)	0,1	ZN569_HUMAN	ZNF569	HGNC	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		Q17RR6_HUMAN		6	2582	-			UPI0000202203	675			C2H2-type 18.		SNV	ZNF569,missense_variant,p.Ser675Leu,ENST00000316950,NM_152484.2;ZNF569,missense_variant,p.Ser675Leu,ENST00000392149,;ZNF569,missense_variant,p.Ser516Leu,ENST00000392150,;ZNF569,downstream_gene_variant,,ENST00000448051,;ZNF569,downstream_gene_variant,,ENST00000592490,;	uc002ogi.2	c.2024C>T	2582/4061	2	2			c.2024C>T						19	SNP	c.(2023-2025)TCG>TTG	20	20			breast(2)|skin(1)	3	Broad	zinc finger protein 569			37903536		0.413	ENSG00000196437	17740	g.chr19:37903536G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							94.490933	KEEP	24	14	-1	33	45	24	14	-1	97.199035	33	45	0.330189	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF569_uc002ogh.2_Missense_Mutation_p.S516L|ZNF569_uc002ogj.2_Missense_Mutation_p.S699L	144	GBM-14-1395-TP	p.S675L	G	AACAAGGTGCGACTTTTGGCT	NM_152484	NP_689697	37903536	Q5MCW4	ZN569_HUMAN	0	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	2582	-	A	A			Missense_Mutation	675			C2H2-type 18.			
ZNF570	148268		GRCh37	19	37975633	37975633	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000330173.1:c.1109G>A	p.Arg370His	p.R370H	ENST00000330173	NM_144694.1	370	cGt/cAt	0																																																																																																																																																																																																																																												
ZNF571	51276	broad.mit.edu	GRCh37	19	38056190	38056193	+	frameshift_variant	Frame_Shift_Del	DEL	GTAA	GTAA	-			TCGA-02-2485-01	TCGA-02-2485-01	GTAA	GTAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328550.2:c.1137_1140del	p.Tyr380ThrfsTer2	p.Y380Tfs*2	ENST00000328550		379	acTTAC/ac	0		-:0	1	-:0		-	TY/X	uc002ogt.2	protein_coding	YES	CCDS12505.1			1137-1140/1830										0	c.(1135-1140)ACTTACfs			Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF141,PROSITE_profiles:PS50157	zinc finger protein 571		-:0		ENSP00000333660	-:0	5-Apr	0.000642	9.79E-05	0.000348			0.000121		0.00398	rs531640879	5-Apr	common_variant		ENST00000328550	Transcript		-:0.0010	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000180479	g.chr19:38056190_38056193delGTAA	25000			HIGH								--	--	1																																		uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Frame_Shift_Del_p.T379fs		1			p.T379fs	NM_016536	NP_057620	-:0.0051			ZN571_HUMAN	ZNF571	HGNC	Q7Z3V5	ZN571_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)				4	1238_1241	-			UPI000020220A	379_380			C2H2-type 9.		deletion	ZNF571,frameshift_variant,p.Tyr380ThrfsTer2,ENST00000328550,;ZNF571,frameshift_variant,p.Tyr380ThrfsTer2,ENST00000593133,;ZNF571,frameshift_variant,p.Tyr380ThrfsTer2,ENST00000451802,NM_016536.3;ZNF571,frameshift_variant,p.Tyr380ThrfsTer2,ENST00000358744,;ZNF540,intron_variant,,ENST00000592533,NM_152606.4;ZNF571,intron_variant,,ENST00000590751,;ZNF571,downstream_gene_variant,,ENST00000590390,;ZNF571-AS1,intron_variant,,ENST00000585578,;ZNF571-AS1,intron_variant,,ENST00000586139,;ZNF571-AS1,intron_variant,,ENST00000590838,;ZNF571-AS1,intron_variant,,ENST00000587121,;ZNF571-AS1,intron_variant,,ENST00000592392,;ZNF571-AS1,intron_variant,,ENST00000591430,;ZNF571-AS1,intron_variant,,ENST00000589750,;ZNF571-AS1,intron_variant,,ENST00000586013,;ZNF571-AS1,intron_variant,,ENST00000589802,;ZNF571-AS1,downstream_gene_variant,,ENST00000588382,;ZNF571-AS1,upstream_gene_variant,,ENST00000591177,;	uc002ogt.2	c.1137_1140delTTAC	1237-1240/3844	5	5			c.1137_1140delTTAC						19	DEL	c.(1135-1140)ACTTACfs	37	37				0	Broad	zinc finger protein 571			38056193		0.377	ENSG00000180479	17743	g.chr19:38056190_38056193delGTAA	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding																				0.3	1	1	0	1	0	0	0	0	0	--	--		0	-			uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Frame_Shift_Del_p.T379fs	7	GBM-02-2485-TP	p.T379fs	GTAA	CTCTCAGGTGGTAAGTAAGTTGTG	NM_016536	NP_057620	38056190	Q7Z3V5	ZN571_HUMAN	0	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	1238_1241	-	-	-			Frame_Shift_Del	379_380			C2H2-type 9.			
ZNF571	51276	broad.mit.edu	GRCh37	19	38056190	38056193	+	frameshift_variant	Frame_Shift_Del	DEL	GTAA	GTAA	-			TCGA-06-0646-01	TCGA-06-0646-01	GTAA	GTAA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328550.2:c.1137_1140del	p.Tyr380ThrfsTer2	p.Y380Tfs*2	ENST00000328550		379	acTTAC/ac	0		-:0	1	-:0		-	TY/X	uc002ogt.2	protein_coding	YES	CCDS12505.1			1137-1140/1830										0	c.(1135-1140)ACTTACfs			Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF141,PROSITE_profiles:PS50157	zinc finger protein 571		-:0		ENSP00000333660	-:0	5-Apr	0.000642	9.79E-05	0.000348			0.000121		0.00398	rs531640879	5-Apr	common_variant		ENST00000328550	Transcript		-:0.0010	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000180479	g.chr19:38056190_38056193delGTAA	25000			HIGH								--	--	1																																		uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Frame_Shift_Del_p.T379fs		1			p.T379fs	NM_016536	NP_057620	-:0.0051			ZN571_HUMAN	ZNF571	HGNC	Q7Z3V5	ZN571_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)				4	1238_1241	-			UPI000020220A	379_380			C2H2-type 9.		deletion	ZNF571,frameshift_variant,p.Tyr380ThrfsTer2,ENST00000328550,;ZNF571,frameshift_variant,p.Tyr380ThrfsTer2,ENST00000593133,;ZNF571,frameshift_variant,p.Tyr380ThrfsTer2,ENST00000451802,NM_016536.3;ZNF571,frameshift_variant,p.Tyr380ThrfsTer2,ENST00000358744,;ZNF540,intron_variant,,ENST00000592533,NM_152606.4;ZNF571,intron_variant,,ENST00000590751,;ZNF571,downstream_gene_variant,,ENST00000590390,;ZNF571-AS1,intron_variant,,ENST00000585578,;ZNF571-AS1,intron_variant,,ENST00000586139,;ZNF571-AS1,intron_variant,,ENST00000590838,;ZNF571-AS1,intron_variant,,ENST00000587121,;ZNF571-AS1,intron_variant,,ENST00000592392,;ZNF571-AS1,intron_variant,,ENST00000591430,;ZNF571-AS1,intron_variant,,ENST00000589750,;ZNF571-AS1,intron_variant,,ENST00000586013,;ZNF571-AS1,intron_variant,,ENST00000589802,;ZNF571-AS1,downstream_gene_variant,,ENST00000588382,;ZNF571-AS1,upstream_gene_variant,,ENST00000591177,;	uc002ogt.2	c.1137_1140delTTAC	1237-1240/3844	5	5			c.1137_1140delTTAC						19	DEL	c.(1135-1140)ACTTACfs	37	37				0	Broad	zinc finger protein 571			38056193		0.377	ENSG00000180479	17743	g.chr19:38056190_38056193delGTAA	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding																				0.38	1	1	0	1	0	0	0	0	0	--	--		0	-			uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Frame_Shift_Del_p.T379fs	60	GBM-06-0646-TP	p.T379fs	GTAA	CTCTCAGGTGGTAAGTAAGTTGTG	NM_016536	NP_057620	38056190	Q7Z3V5	ZN571_HUMAN	0	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	1238_1241	-	-	-			Frame_Shift_Del	379_380			C2H2-type 9.			
ZNF581	0	broad.mit.edu	GRCh37	19	56155985	56155985	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-16-1045-01	TCGA-16-1045-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000270451.5:c.48C>T	p.Ser16=	p.S16=	ENST00000270451	NM_016535.3	16	tcC/tcT	0			1			T	S	uc002qln.2	protein_coding		CCDS12932.1			48/594										0	c.(46-48)TCC>TCT			hmmpanther:PTHR23228:SF110,hmmpanther:PTHR23228	zinc finger protein 581				ENSP00000270451		2-Feb	4.12E-05					0.000113			rs776646245,COSM3404648	2-Feb	.		ENST00000270451	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000171425	g.chr19:56155985C>T	25017			LOW								--	--	1																																		ZNF581_uc002qlq.2_Silent_p.S16S|CCDC106_uc002qlr.2_5'Flank	0,1				p.S16S	NM_016535	NP_057619			0,1	ZN581_HUMAN	ZNF581	HGNC	Q9P0T4	ZN581_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	K7EM32_HUMAN		2	764	+		Ovarian(87;0.133)	UPI0000070E84	16					SNV	ZNF581,synonymous_variant,p.=,ENST00000587252,;ZNF581,synonymous_variant,p.=,ENST00000270451,NM_016535.3;ZNF581,synonymous_variant,p.=,ENST00000588537,;ZNF581,synonymous_variant,p.=,ENST00000585995,;CCDC106,intron_variant,,ENST00000592996,;CCDC106,upstream_gene_variant,,ENST00000586790,;CCDC106,upstream_gene_variant,,ENST00000591578,;CCDC106,upstream_gene_variant,,ENST00000308964,NM_013301.2;ZNF580,downstream_gene_variant,,ENST00000543039,NM_016202.2;CCDC106,upstream_gene_variant,,ENST00000588740,;ZNF580,downstream_gene_variant,,ENST00000325333,NM_207115.1;CCDC106,upstream_gene_variant,,ENST00000591241,;ZNF580,downstream_gene_variant,,ENST00000545125,NM_001163423.1;ZNF580,downstream_gene_variant,,ENST00000592881,;CCDC106,upstream_gene_variant,,ENST00000587213,;CCDC106,upstream_gene_variant,,ENST00000593069,;ZNF580,downstream_gene_variant,,ENST00000592461,;ZNF580,downstream_gene_variant,,ENST00000590190,;CCDC106,upstream_gene_variant,,ENST00000586864,;	uc002qln.2	c.48C>T	295/1298	2	2			c.48C>T						19	SNP	c.(46-48)TCC>TCT	21	21				0	Broad	zinc finger protein 581			56155985		0.617	ENSG00000171425	17752	g.chr19:56155985C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							45.348718	KEEP	7	7	-1	12	11	7	7	-1	45.457001	12	11	0.4375	1	0	0	0	0	0	0	1	0	--	--		0	T			ZNF581_uc002qlq.2_Silent_p.S16S|CCDC106_uc002qlr.2_5'Flank	157	GBM-16-1045-TP	p.S16S	C	CATTTTCCTCCGTTGAGACCA	NM_016535	NP_057619	56155985	Q9P0T4	ZN581_HUMAN	0	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	2	764	+	T	T		Ovarian(87;0.133)	Silent	16						
ZNF583	147949	broad.mit.edu	GRCh37	19	56934399	56934399	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-02-0003-01	TCGA-02-0003-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333201.9:c.372T>G	p.Ser124Arg	p.S124R	ENST00000333201	NM_001159861.1	124	agT/agG	0			1			G	S/R	uc010ygl.1	protein_coding		CCDS12943.1			372/1710									ovary(1)	1	c.(370-372)AGT>AGG			hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF211	zinc finger protein 583				ENSP00000291598		5-May									COSM2148929	5-May	.		ENST00000291598	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000198440	g.chr19:56934399T>G	26427			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=ZN583_HUMAN&rb=47&re=225&var=S124R	NA	getma.org/?cm=var&var=hg19,19,56934399,T,G&fts=all	S124R	--	--	1																																		ZNF583_uc002qnc.2_Missense_Mutation_p.S124R|ZNF583_uc010ygm.1_Missense_Mutation_p.S124R	1			benign(0.002)	p.S124R	NM_001159860	NP_001153332		tolerated(0.32)	1	ZN583_HUMAN	ZNF583	HGNC	Q96ND8	ZN583_HUMAN		GBM - Glioblastoma multiforme(193;0.0564)	I3L0C4_HUMAN,F5GZQ5_HUMAN		5	537	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	UPI000013E700	124					SNV	ZNF583,missense_variant,p.Ser124Arg,ENST00000333201,NM_001159861.1,NM_152478.2;ZNF583,missense_variant,p.Ser124Arg,ENST00000291598,NM_001159860.1;ZNF583,missense_variant,p.Ser124Arg,ENST00000391778,;ZNF583,missense_variant,p.Ser124Arg,ENST00000537943,;ZNF583,upstream_gene_variant,,ENST00000585612,;	uc010ygl.1	c.372T>G	537/2538	4	4			c.372T>G						19	SNP	c.(370-372)AGT>AGG	22	22			ovary(1)	1	Broad	zinc finger protein 583			56934399		0.383	ENSG00000198440	17754	g.chr19:56934399T>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							254.006658	KEEP	33	40	-1	36	35	33	40	-1	254.020748	36	35	0.510638	1	0	0	0	0	1	0	0	0	--	--		0	G			ZNF583_uc002qnc.2_Missense_Mutation_p.S124R|ZNF583_uc010ygm.1_Missense_Mutation_p.S124R	1	GBM-02-0003-TP	p.S124R	T	ACTGTCAAAGTGAGGACTGGT	NM_001159860	NP_001153332	56934399	Q96ND8	ZN583_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0564)	5	537	+	G	G		Colorectal(82;0.000256)|Ovarian(87;0.243)	Missense_Mutation	124						
ZNF586	54807	broad.mit.edu	GRCh37	19	58290731	58290731	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0128-01	TCGA-06-0128-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396154.2:c.776A>G	p.Glu259Gly	p.E259G	ENST00000396154	NM_017652.3	259	gAa/gGa	0			1			G	E/G	uc002qqd.2	protein_coding	YES	CCDS42640.1			776/1209									ovary(2)	2	c.(775-777)GAA>GGA			PROSITE_profiles:PS50157,hmmpanther:PTHR24387:SF34,hmmpanther:PTHR24387,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	zinc finger protein 586				ENSP00000379458		3-Mar									COSM2149466	3-Mar	.		ENST00000396154	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000083828	g.chr19:58290731A>G	25949			MODERATE		2.325	medium	getma.org/?cm=msa&ty=f&p=ZN586_HUMAN&rb=228&re=293&var=E259G	getma.org/pdb.php?prot=ZN586_HUMAN&from=248&to=273&var=E259G	getma.org/?cm=var&var=hg19,19,58290731,A,G&fts=all	E259G	--	--	1																																		ZNF587_uc002qqb.2_Intron|ZNF586_uc002qqe.2_3'UTR|ZNF586_uc010euh.2_Missense_Mutation_p.E216G|ZNF586_uc002qqf.1_Intron	1	1		probably_damaging(0.916)	p.E259G	NM_017652	NP_060122		deleterious(0.01)	1	ZN586_HUMAN	ZNF586	HGNC	Q9NXT0	ZN586_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)			3	962	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	UPI0000202D48	259					SNV	ZNF586,missense_variant,p.Glu216Gly,ENST00000391702,NM_001204814.1;ZNF586,missense_variant,p.Glu259Gly,ENST00000396154,NM_017652.3;ZNF586,3_prime_UTR_variant,,ENST00000396150,NM_001077426.2;ZNF586,intron_variant,,ENST00000598183,;ZNF586,intron_variant,,ENST00000599802,;ZNF586,intron_variant,,ENST00000598885,;	uc002qqd.2	c.776A>G	949/2163	3	3			c.776A>G						19	SNP	c.(775-777)GAA>GGA	8	8			ovary(2)	2	Broad	zinc finger protein 586			58290731		0.443	ENSG00000083828	17758	g.chr19:58290731A>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							169.887677	KEEP	21	28	-1	38	34	21	28	-1	170.570982	38	34	0.417391	1	0	0	0	0	1	0	0	0	--	--		0	G			ZNF587_uc002qqb.2_Intron|ZNF586_uc002qqe.2_3'UTR|ZNF586_uc010euh.2_Missense_Mutation_p.E216G|ZNF586_uc002qqf.1_Intron	14	GBM-06-0128-TP	p.E259G	A	CACACAGGAGAAAGGCCTTAT	NM_017652	NP_060122	58290731	Q9NXT0	ZN586_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	962	+	G	G		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	Missense_Mutation	259						
ZNF592	9640		GRCh37	15	85326217	85326217	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000299927.3:c.311C>A	p.Pro104His	p.P104H	ENST00000299927		104	cCc/cAc	0																																																																																																																																																																																																																																												
ZNF597	146434	broad.mit.edu	GRCh37	16	3490932	3490932	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	rs139189056	byFrequency	TCGA-06-0173-01	TCGA-06-0173-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301744.4:c.35G>T	p.Gly12Val	p.G12V	ENST00000301744	NM_152457.1	12	gGa/gTa	0			1			A	G/V	uc002cvd.2	protein_coding	YES	CCDS10505.1			35/1275										0	c.(34-36)GGA>GTA			hmmpanther:PTHR24385,hmmpanther:PTHR24385:SF50,Superfamily_domains:0044637	zinc finger protein 597				ENSP00000301744		4-Mar									COSM2150375	4-Mar	.		ENST00000301744	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000167981	g.chr16:3490932C>A	26573			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=ZN597_HUMAN&rb=1&re=43&var=G12V	NA	getma.org/?cm=var&var=hg19,16,3490932,C,A&fts=all	G12V	--	--	1																																		NAT15_uc002cvh.3_5'Flank|NAT15_uc010uxb.1_5'Flank	1	1		probably_damaging(0.927)	p.G12V	NM_152457	NP_689670		tolerated(0.06)	1	ZN597_HUMAN	ZNF597	HGNC	Q96LX8	ZN597_HUMAN					3	219	-			UPI0000070B73	12					SNV	ZNF597,missense_variant,p.Gly12Val,ENST00000301744,NM_152457.1;NAA60,upstream_gene_variant,,ENST00000407558,;NAA60,upstream_gene_variant,,ENST00000608722,NM_001083601.1;NAA60,upstream_gene_variant,,ENST00000424546,;NAA60,upstream_gene_variant,,ENST00000572757,;NAA60,upstream_gene_variant,,ENST00000573580,;NAA60,upstream_gene_variant,,ENST00000575733,;NAA60,upstream_gene_variant,,ENST00000573201,;NAA60,upstream_gene_variant,,ENST00000574950,;NAA60,upstream_gene_variant,,ENST00000572169,;NAA60,upstream_gene_variant,,ENST00000573593,;NAA60,upstream_gene_variant,,ENST00000570372,;NAA60,upstream_gene_variant,,ENST00000575936,;NAA60,upstream_gene_variant,,ENST00000575042,;NAA60,intron_variant,,ENST00000575785,;NAA60,upstream_gene_variant,,ENST00000574762,;NAA60,upstream_gene_variant,,ENST00000573617,;NAA60,upstream_gene_variant,,ENST00000574256,;	uc002cvd.2	c.35G>T	271/1831	1	1			c.35G>T						16	SNP	c.(34-36)GGA>GTA	62	62				0	Broad	zinc finger protein 597			3490932		0.507	ENSG00000167981	17766	g.chr16:3490932C>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							104.756018	KEEP	24	16	0.4	28	29	24	16	0.4	105.180451	28	29	0.425287	1	0	0	0	0	1	0	0	0	--	--		0	A			NAT15_uc002cvh.3_5'Flank|NAT15_uc010uxb.1_5'Flank	36	GBM-06-0173-TP	p.G12V	C	GAGTATTGGTCCCTGAAACAC	NM_152457	NP_689670	3490932	Q96LX8	ZN597_HUMAN	0			3	219	-	A	A			Missense_Mutation	12						
ZNF599	0	broad.mit.edu	GRCh37	19	35250777	35250777	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-32-2632-01	TCGA-32-2632-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000329285.8:c.929C>A	p.Pro310His	p.P310H	ENST00000329285	NM_001007248.2	310	cCc/cAc	0			1			T	P/H	uc010edn.1	protein_coding	YES	CCDS32991.1			929/1767									ovary(1)|skin(1)	2	c.(928-930)CCC>CAC			PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF20,hmmpanther:PTHR24381,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667	zinc finger protein 599				ENSP00000333802		4-Apr									COSM3404101	4-Apr	.		ENST00000329285	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000153896	g.chr19:35250777G>T	26408			MODERATE		3.465	medium	getma.org/?cm=msa&ty=f&p=ZN599_HUMAN&rb=277&re=342&var=P310H	getma.org/pdb.php?prot=ZN599_HUMAN&from=297&to=322&var=P310H	getma.org/?cm=var&var=hg19,19,35250777,G,T&fts=all	P310H	--	--	1																																		ZNF599_uc010edm.1_Missense_Mutation_p.P273H	1	1		probably_damaging(1)	p.P310H	NM_001007248	NP_001007249		deleterious(0)	1	ZN599_HUMAN	ZNF599	HGNC	Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)				4	1317	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		UPI0000071186	310					SNV	ZNF599,missense_variant,p.Pro310His,ENST00000329285,NM_001007248.2;ZNF599,downstream_gene_variant,,ENST00000587354,;	uc010edn.1	c.929C>A	1303/3099	1	1			c.929C>A						19	SNP	c.(928-930)CCC>CAC	14	14			ovary(1)|skin(1)	2	Broad	zinc finger protein 599			35250777		0.418	ENSG00000153896	17768	g.chr19:35250777G>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							135.070323	KEEP	40	18	0.689655172	83	57	40	18	0.689655172	141.950763	83	57	0.295082	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF599_uc010edm.1_Missense_Mutation_p.P273H	240	GBM-32-2632-TP	p.P310H	G	GCATAAAAAGGGTTTTTCTCG	NM_001007248	NP_001007249	35250777	Q96NL3	ZN599_HUMAN	0	LUSC - Lung squamous cell carcinoma(66;0.138)		4	1317	-	T	T	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		Missense_Mutation	310						
ZNF606	80095	broad.mit.edu	GRCh37	19	58490980	58490980	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-02-2470-01	TCGA-02-2470-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000341164.4:c.1068C>G	p.Phe356Leu	p.F356L	ENST00000341164	NM_025027.3	356	ttC/ttG	0			1			C	F/L	uc002qqw.2	protein_coding	YES	CCDS12968.1			1068/2379									upper_aerodigestive_tract(1)|ovary(1)	2	c.(1066-1068)TTC>TTG			hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF278,Superfamily_domains:SSF57667	zinc finger protein 606				ENSP00000343617		7-Jul	1.65E-05		0.000173						rs772271108,COSM2149080,COSM2149079	7-Jul	.		ENST00000341164	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000166704	g.chr19:58490980G>C	25879			MODERATE		0.09	neutral	getma.org/?cm=msa&ty=f&p=ZN606_HUMAN&rb=303&re=413&var=F356L	getma.org/pdb.php?prot=ZN606_HUMAN&from=303&to=413&var=F356L	getma.org/?cm=var&var=hg19,19,58490980,G,C&fts=all	F356L	--	--	1																																		ZNF606_uc010yhp.1_Missense_Mutation_p.F266L	0,1,1	1		probably_damaging(0.968)	p.F356L	NM_025027	NP_079303		tolerated(0.65)	0,1,1	ZN606_HUMAN	ZNF606	HGNC	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	Q9H7U2_HUMAN,F8W1C8_HUMAN,F5H208_HUMAN		7	1686	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	UPI000013C35B	356					SNV	ZNF606,missense_variant,p.Phe356Leu,ENST00000341164,NM_025027.3;ZNF606,missense_variant,p.Phe266Leu,ENST00000536132,;ZNF606,missense_variant,p.Phe356Leu,ENST00000551380,;ZNF606,3_prime_UTR_variant,,ENST00000550599,;	uc002qqw.2	c.1068C>G	1689/4248	3	3			c.1068C>G						19	SNP	c.(1066-1068)TTC>TTG	4	4			upper_aerodigestive_tract(1)|ovary(1)	2	Broad	zinc finger protein 606			58490980		0.333	ENSG00000166704	17771	g.chr19:58490980G>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							137.715242	KEEP	19	30	-1	84	87	19	30	-1	152.820006	84	87	0.221698	1	0	0	0	0	1	0	0	0	--	--		0	C			ZNF606_uc010yhp.1_Missense_Mutation_p.F266L	5	GBM-02-2470-TP	p.F356L	G	TAAAGGATGAGAAATAAAAGA	NM_025027	NP_079303	58490980	Q8WXB4	ZN606_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	1686	-	C	C		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	Missense_Mutation	356						
ZNF608	0	broad.mit.edu	GRCh37	5	123984804	123984804	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-0790-01	TCGA-14-0790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306315.5:c.1273G>T	p.Asp425Tyr	p.D425Y	ENST00000306315	NM_020747.2	425	Gac/Tac	0			1			A	D/Y	uc003ktq.1	protein_coding	YES	CCDS34219.1			1273/4539									skin(3)|ovary(2)|lung(1)	6	c.(1273-1275)GAC>TAC			hmmpanther:PTHR21564,hmmpanther:PTHR21564:SF4	zinc finger protein 608				ENSP00000307746		9-Apr									COSM3409689	9-Apr	.		ENST00000306315	Transcript				intracellular	zinc ion binding	ENSG00000168916	g.chr5:123984804C>A	29238			MODERATE		2.275	medium	getma.org/?cm=msa&ty=f&p=ZN608_HUMAN&rb=421&re=578&var=D425Y	NA	getma.org/?cm=var&var=hg19,5,123984804,C,A&fts=all	D425Y	--	--	1																																		ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.D425Y|ZNF608_uc003ktt.1_Missense_Mutation_p.D425Y	1	1		probably_damaging(0.999)	p.D425Y	NM_020747	NP_065798		deleterious(0)	1	ZN608_HUMAN	ZNF608	HGNC	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	Q9UFL4_HUMAN,B3KPE6_HUMAN		4	1396	-		all_cancers(142;0.186)|Prostate(80;0.081)	UPI000013EB23	425					SNV	ZNF608,missense_variant,p.Asp425Tyr,ENST00000306315,NM_020747.2;ZNF608,missense_variant,p.Asp425Tyr,ENST00000513986,;ZNF608,missense_variant,p.Asp425Tyr,ENST00000509799,;ZNF608,5_prime_UTR_variant,,ENST00000504926,;ZNF608,non_coding_transcript_exon_variant,,ENST00000507508,;ZNF608,intron_variant,,ENST00000503896,;ZNF608,upstream_gene_variant,,ENST00000513985,;ZNF608,intron_variant,,ENST00000505686,;	uc003ktq.1	c.1273G>T	1709/5958	2	2			c.1273G>T						5	SNP	c.(1273-1275)GAC>TAC	32	32			skin(3)|ovary(2)|lung(1)	6	Broad	zinc finger protein 608			123984804		0.552	ENSG00000168916	17773	g.chr5:123984804C>A		intracellular	zinc ion binding			447			447	109.294967	KEEP	17	21	0.552631579	15	25	17	21	0.552631579	109.294967	15	25	0.5	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.D425Y|ZNF608_uc003ktt.1_Missense_Mutation_p.D425Y	137	GBM-14-0790-TP	p.D425Y	C	ATCTCCAGGTCACTTGTCGGT	NM_020747	NP_065798	123984804	Q9ULD9	ZN608_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	1396	-	A	A		all_cancers(142;0.186)|Prostate(80;0.081)	Missense_Mutation	425						
ZNF608	0	broad.mit.edu	GRCh37	5	123983427	123983427	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01	TCGA-16-0861-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306315.5:c.2650G>A	p.Asp884Asn	p.D884N	ENST00000306315	NM_020747.2	884	Gat/Aat	0			1			T	D/N	uc003ktq.1	protein_coding	YES	CCDS34219.1			2650/4539									skin(3)|ovary(2)|lung(1)	6	c.(2650-2652)GAT>AAT			hmmpanther:PTHR21564,hmmpanther:PTHR21564:SF4	zinc finger protein 608				ENSP00000307746		9-Apr									COSM3409688	9-Apr	.		ENST00000306315	Transcript				intracellular	zinc ion binding	ENSG00000168916	g.chr5:123983427C>T	29238			MODERATE		2.22	medium	getma.org/?cm=msa&ty=f&p=ZN608_HUMAN&rb=579&re=1510&var=D884N	NA	getma.org/?cm=var&var=hg19,5,123983427,C,T&fts=all	D884N	--	--	1																																		ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.D884N|ZNF608_uc003ktt.1_Missense_Mutation_p.D884N	1	1		probably_damaging(0.997)	p.D884N	NM_020747	NP_065798		deleterious(0)	1	ZN608_HUMAN	ZNF608	HGNC	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	Q9UFL4_HUMAN,B3KPE6_HUMAN		4	2773	-		all_cancers(142;0.186)|Prostate(80;0.081)	UPI000013EB23	884					SNV	ZNF608,missense_variant,p.Asp884Asn,ENST00000306315,NM_020747.2;ZNF608,missense_variant,p.Asp457Asn,ENST00000504926,;ZNF608,downstream_gene_variant,,ENST00000513986,;ZNF608,downstream_gene_variant,,ENST00000509799,;ZNF608,intron_variant,,ENST00000503896,;ZNF608,upstream_gene_variant,,ENST00000513985,;ZNF608,downstream_gene_variant,,ENST00000507508,;ZNF608,intron_variant,,ENST00000505686,;	uc003ktq.1	c.2650G>A	3086/5958	2	2			c.2650G>A						5	SNP	c.(2650-2652)GAT>AAT	33	33			skin(3)|ovary(2)|lung(1)	6	Broad	zinc finger protein 608			123983427		0.532	ENSG00000168916	17773	g.chr5:123983427C>T		intracellular	zinc ion binding			447			447	202.173672	KEEP	43	28	-1	35	49	43	28	-1	202.248991	35	49	0.475524	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.D884N|ZNF608_uc003ktt.1_Missense_Mutation_p.D884N	156	GBM-16-0861-TP	p.D884N	C	TAAACCTTATCGGCCTCAGCT	NM_020747	NP_065798	123983427	Q9ULD9	ZN608_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	2773	-	T	T		all_cancers(142;0.186)|Prostate(80;0.081)	Missense_Mutation	884						
ZNF608	0	broad.mit.edu	GRCh37	5	124080387	124080387	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-28-5216-01	TCGA-28-5216-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306315.5:c.296A>C	p.Lys99Thr	p.K99T	ENST00000306315	NM_020747.2	99	aAa/aCa	0			1			G	K/T	uc003ktq.1	protein_coding	YES	CCDS34219.1			296/4539									skin(3)|ovary(2)|lung(1)	6	c.(295-297)AAA>ACA			Low_complexity_(Seg):seg,hmmpanther:PTHR21564,hmmpanther:PTHR21564:SF4	zinc finger protein 608				ENSP00000307746		9-Jan									COSM1432737	9-Jan	.		ENST00000306315	Transcript				intracellular	zinc ion binding	ENSG00000168916	g.chr5:124080387T>G	29238			MODERATE		1.61	low	getma.org/?cm=msa&ty=f&p=ZN608_HUMAN&rb=1&re=223&var=K99T	NA	getma.org/?cm=var&var=hg19,5,124080387,T,G&fts=all	K99T	--	--	1																																		ZNF608_uc003ktr.1_RNA|ZNF608_uc003kts.1_Missense_Mutation_p.K99T|ZNF608_uc003ktt.1_Missense_Mutation_p.K99T	1	1		probably_damaging(0.996)	p.K99T	NM_020747	NP_065798		tolerated(0.12)	1	ZN608_HUMAN	ZNF608	HGNC	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	Q9UFL4_HUMAN,B3KPE6_HUMAN		1	419	-		all_cancers(142;0.186)|Prostate(80;0.081)	UPI000013EB23	99					SNV	ZNF608,missense_variant,p.Lys99Thr,ENST00000306315,NM_020747.2;ZNF608,missense_variant,p.Lys99Thr,ENST00000513986,;ZNF608,missense_variant,p.Lys99Thr,ENST00000509799,;ZNF608,upstream_gene_variant,,ENST00000504926,;ZNF608,non_coding_transcript_exon_variant,,ENST00000512940,;ZNF608,upstream_gene_variant,,ENST00000503896,;ZNF608,missense_variant,p.Lys99Thr,ENST00000505686,;	uc003ktq.1	c.296A>C	732/5958	4	4			c.296A>C						5	SNP	c.(295-297)AAA>ACA	17	17			skin(3)|ovary(2)|lung(1)	6	Broad	zinc finger protein 608			124080387		0.507	ENSG00000168916	17773	g.chr5:124080387T>G		intracellular	zinc ion binding			447			447	241.653286	KEEP	43	29	-1	40	29	43	29	-1	241.654864	40	29	0.496241	1	0	0	0	0	1	0	0	0	--	--		0	G			ZNF608_uc003ktr.1_RNA|ZNF608_uc003kts.1_Missense_Mutation_p.K99T|ZNF608_uc003ktt.1_Missense_Mutation_p.K99T	223	GBM-28-5216-TP	p.K99T	T	GCTGGTCTCTTTGTGTGAATT	NM_020747	NP_065798	124080387	Q9ULD9	ZN608_HUMAN	0	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	1	419	-	G	G		all_cancers(142;0.186)|Prostate(80;0.081)	Missense_Mutation	99						
ZNF609	23060	broad.mit.edu	GRCh37	15	64966530	64966530	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01	TCGA-06-0686-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000326648.3:c.1477G>A	p.Val493Ile	p.V493I	ENST00000326648	NM_015042.1	493	Gtc/Atc	0	A:0	A:0	1	A:0		A	V/I	uc002ann.2	protein_coding	YES	CCDS32270.1			1477/4236									upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	c.(1477-1479)GTC>ATC			hmmpanther:PTHR21564,hmmpanther:PTHR21564:SF3	zinc finger protein 609		A:0	A:0.0007	ENSP00000316527	A:0	9-Apr	0.000453	9.62E-05	8.64E-05	0.00116	0.000302	0.00042		0.000787	rs200890644,COSM2151594	9-Apr	common_variant		ENST00000326648	Transcript		A:0.0002		nucleus	zinc ion binding	ENSG00000180357	g.chr15:64966530G>A	29003			MODERATE		0.98	low	getma.org/?cm=msa&ty=f&p=ZN609_HUMAN&rb=359&re=534&var=V493I	NA	getma.org/?cm=var&var=hg19,15,64966530,G,A&fts=all	V493I	--	--	1																																			0,1	1		benign(0.023)	p.V493I	NM_015042	NP_055857	A:0.001	tolerated(0.21)	0,1	ZN609_HUMAN	ZNF609	HGNC	O15014	ZN609_HUMAN					4	1477	+			UPI00001D7783	493					SNV	ZNF609,missense_variant,p.Val493Ile,ENST00000326648,NM_015042.1;RNU6-549P,downstream_gene_variant,,ENST00000384433,;ZNF609,non_coding_transcript_exon_variant,,ENST00000559364,;ZNF609,downstream_gene_variant,,ENST00000558680,;	uc002ann.2	c.1477G>A	1605/8743	1	1			c.1477G>A						15	SNP	c.(1477-1479)GTC>ATC	55	55			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Broad	zinc finger protein 609			64966530		0.522	ENSG00000180357	17774	g.chr15:64966530G>A		nucleus	zinc ion binding							185.02434	KEEP	28	38	-1	35	47	28	38	-1	185.130732	35	47	0.469697	1	0	0	0	0	1	0	0	0	--	--		0	A				64	GBM-06-0686-TP	p.V493I	G	CCCCTCCCCCGTCCTAATTGA	NM_015042	NP_055857	64966530	O15014	ZN609_HUMAN	0			4	1477	+	A	A			Missense_Mutation	493						
ZNF610	0	broad.mit.edu	GRCh37	19	52869863	52869863	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs150692972		TCGA-14-0787-01	TCGA-14-0787-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321287.8:c.1232G>A	p.Arg411His	p.R411H	ENST00000321287	NM_001161426.1	411	cGc/cAc	0	A:0.0005	A:0.0008	1	A:0		A	R/H	uc002pyx.3	protein_coding		CCDS12851.1			1232/1389									ovary(2)|upper_aerodigestive_tract(1)	3	c.(1231-1233)CGC>CAC			Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF197,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 610 isoform a		A:0	A:0	ENSP00000324441	A:0	6-Jun	0.000107	0.000868	0.000173			1.50E-05			rs150692972,COSM3404522	6-Jun	common_variant		ENST00000321287	Transcript		A:0.0002	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000167554	g.chr19:52869863G>A	26687			MODERATE		1.185	low	getma.org/?cm=msa&ty=f&p=ZN610_HUMAN&rb=366&re=431&var=R411H	getma.org/pdb.php?prot=ZN610_HUMAN&from=386&to=411&var=R411H	getma.org/?cm=var&var=hg19,19,52869863,G,A&fts=all	R411H	--	--	1																																		ZNF610_uc002pyy.3_Missense_Mutation_p.R411H|ZNF610_uc002pyz.3_Missense_Mutation_p.R368H|ZNF610_uc002pza.2_Missense_Mutation_p.R411H	0,1			benign(0.012)	p.R411H	NM_001161426	NP_001154898	A:0	tolerated(0.7)	0,1	ZN610_HUMAN	ZNF610	HGNC	Q8N9Z0	ZN610_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)	M0QYM6_HUMAN		6	1638	+			UPI0000140AF2	411			C2H2-type 8.		SNV	ZNF610,missense_variant,p.Arg368His,ENST00000601151,NM_001161427.1;ZNF610,missense_variant,p.Arg411His,ENST00000403906,NM_001161425.1;ZNF610,missense_variant,p.Arg411His,ENST00000321287,NM_001161426.1;ZNF610,missense_variant,p.Arg411His,ENST00000327920,NM_173530.2;ZNF880,upstream_gene_variant,,ENST00000422689,NM_001145434.1;ZNF880,upstream_gene_variant,,ENST00000600321,;ZNF880,upstream_gene_variant,,ENST00000424032,;ZNF880,upstream_gene_variant,,ENST00000344085,;ZNF880,upstream_gene_variant,,ENST00000597976,;ZNF880,upstream_gene_variant,,ENST00000595099,;	uc002pyx.3	c.1232G>A	1638/2150	2	2			c.1232G>A						19	SNP	c.(1231-1233)CGC>CAC	19	19			ovary(2)|upper_aerodigestive_tract(1)	3	Broad	zinc finger protein 610 isoform a			52869863		0.423	ENSG00000167554	17775	g.chr19:52869863G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-21.104539	KEEP	1	3	-1	60	60	1	3	-1	6.553262	60	60	0.034188	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF610_uc002pyy.3_Missense_Mutation_p.R411H|ZNF610_uc002pyz.3_Missense_Mutation_p.R368H|ZNF610_uc002pza.2_Missense_Mutation_p.R411H	135	GBM-14-0787-TP	p.R411H	G	GTCTTTGGGCGCAAATTATAC	NM_001161426	NP_001154898	52869863	Q8N9Z0	ZN610_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)	6	1638	+	A	A			Missense_Mutation	411			C2H2-type 8.			
ZNF610	0	broad.mit.edu	GRCh37	19	52868955	52868955	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-1747-01	TCGA-28-1747-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000321287.8:c.324G>A	p.Arg108=	p.R108=	ENST00000321287	NM_001161426.1	108	agG/agA	0			1			A	R	uc002pyx.3	protein_coding		CCDS12851.1			324/1389									ovary(2)|upper_aerodigestive_tract(1)	3	c.(322-324)AGG>AGA			hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF197	zinc finger protein 610 isoform a				ENSP00000324441		6-Jun									COSM3404521	6-Jun	.		ENST00000321287	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000167554	g.chr19:52868955G>A	26687			LOW								--	--	1																																		ZNF610_uc002pyy.3_Silent_p.R108R|ZNF610_uc002pyz.3_Silent_p.R65R|ZNF610_uc002pza.2_Silent_p.R108R	1				p.R108R	NM_001161426	NP_001154898			1	ZN610_HUMAN	ZNF610	HGNC	Q8N9Z0	ZN610_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)	M0QYM6_HUMAN		6	730	+			UPI0000140AF2	108					SNV	ZNF610,synonymous_variant,p.=,ENST00000601151,NM_001161427.1;ZNF610,synonymous_variant,p.=,ENST00000403906,NM_001161425.1;ZNF610,synonymous_variant,p.=,ENST00000321287,NM_001161426.1;ZNF610,synonymous_variant,p.=,ENST00000327920,NM_173530.2;ZNF880,upstream_gene_variant,,ENST00000422689,NM_001145434.1;ZNF880,upstream_gene_variant,,ENST00000600321,;ZNF880,upstream_gene_variant,,ENST00000424032,;ZNF880,upstream_gene_variant,,ENST00000344085,;ZNF880,upstream_gene_variant,,ENST00000597976,;ZNF880,upstream_gene_variant,,ENST00000595099,;	uc002pyx.3	c.324G>A	730/2150	2	2			c.324G>A						19	SNP	c.(322-324)AGG>AGA	25	25			ovary(2)|upper_aerodigestive_tract(1)	3	Broad	zinc finger protein 610 isoform a			52868955		0.453	ENSG00000167554	17775	g.chr19:52868955G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							205.411758	KEEP	48	36	-1	99	100	48	36	-1	213.839184	99	100	0.305221	1	0	0	0	0	0	0	1	0	--	--		0	A			ZNF610_uc002pyy.3_Silent_p.R108R|ZNF610_uc002pyz.3_Silent_p.R65R|ZNF610_uc002pza.2_Silent_p.R108R	206	GBM-28-1747-TP	p.R108R	G	TTCTAGGGAGGAGCTGTGTAT	NM_001161426	NP_001154898	52868955	Q8N9Z0	ZN610_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)	6	730	+	A	A			Silent	108						
ZNF618	114991	broad.mit.edu	GRCh37	9	116750662	116750662	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01	TCGA-06-0166-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288466.7:c.139G>A	p.Glu47Lys	p.E47K	ENST00000288466	NM_133374.2	47	Gag/Aag	0			1			A	E/K	uc004bid.2	protein_coding					139/2865										0	c.(139-141)GAG>AAG			hmmpanther:PTHR24383,hmmpanther:PTHR24383:SF12	zinc finger protein 618				ENSP00000363241		15-Mar	1.65E-05		0.000175						rs756981948,COSM2150172,COSM2150170,COSM2150171	15-Mar	.		ENST00000374126	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000157657	g.chr9:116750662G>A	29416			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=B5MDS3_HUMAN&rb=1&re=114&var=E47K	NA	getma.org/?cm=var&var=hg19,9,116750662,G,A&fts=all	E47K	--	--	1																																		ZNF618_uc004bib.1_Missense_Mutation_p.E47K|ZNF618_uc004bic.2_Missense_Mutation_p.E47K|ZNF618_uc011lxi.1_Missense_Mutation_p.E47K|ZNF618_uc011lxj.1_Missense_Mutation_p.E47K	0,1,1,1			benign(0.085)	p.E47K	NM_133374	NP_588615		tolerated_low_confidence(0.13)	0,1,1,1	ZN618_HUMAN	ZNF618	HGNC	Q5T7W0	ZN618_HUMAN					3	238	+			UPI000046FD4E	47					SNV	ZNF618,missense_variant,p.Glu47Lys,ENST00000288466,NM_133374.2;ZNF618,missense_variant,p.Glu47Lys,ENST00000374126,;ZNF618,missense_variant,p.Glu47Lys,ENST00000374124,;ZNF618,missense_variant,p.Glu47Lys,ENST00000452710,;ZNF618,non_coding_transcript_exon_variant,,ENST00000481558,;	uc004bid.2	c.139G>A	238/3018	2	2			c.139G>A						9	SNP	c.(139-141)GAG>AAG	27	27				0	Broad	zinc finger protein 618			116750662		0.602	ENSG00000157657	17781	g.chr9:116750662G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							27.298443	KEEP	1	11	-1	22	27	1	11	-1	30.907904	22	27	0.22	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF618_uc004bib.1_Missense_Mutation_p.E47K|ZNF618_uc004bic.2_Missense_Mutation_p.E47K|ZNF618_uc011lxi.1_Missense_Mutation_p.E47K|ZNF618_uc011lxj.1_Missense_Mutation_p.E47K	31	GBM-06-0166-TP	p.E47K	G	AGTGCCAGCCGAGGCCTCGCT	NM_133374	NP_588615	116750662	Q5T7W0	ZN618_HUMAN	0			3	238	+	A	A			Missense_Mutation	47						
ZNF618	114991	broad.mit.edu	GRCh37	9	116779034	116779034	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-0238-01	TCGA-06-0238-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288466.7:c.778C>A	p.Gln260Lys	p.Q260K	ENST00000288466	NM_133374.2	260	Cag/Aag	0			1			A	Q/K	uc004bid.2	protein_coding					814/2865										0	c.(814-816)CAG>AAG			Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13912,PROSITE_patterns:PS00028,hmmpanther:PTHR24383,hmmpanther:PTHR24383:SF12,PROSITE_profiles:PS50157	zinc finger protein 618				ENSP00000363241		15-Oct									COSM3413282,COSM3413280,COSM3413281	15-Oct	.		ENST00000374126	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000157657	g.chr9:116779034C>A	29416			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=B5MDS3_HUMAN&rb=179&re=375&var=Q260K	NA	getma.org/?cm=var&var=hg19,9,116779034,C,A&fts=all	Q260K	--	--	1																																		ZNF618_uc004bib.1_Missense_Mutation_p.Q240K|ZNF618_uc004bic.2_Missense_Mutation_p.Q260K|ZNF618_uc011lxi.1_Missense_Mutation_p.Q240K|ZNF618_uc011lxj.1_Missense_Mutation_p.Q240K	1,1,1			probably_damaging(0.983)	p.Q272K	NM_133374	NP_588615		deleterious_low_confidence(0)	1,1,1	ZN618_HUMAN	ZNF618	HGNC	Q5T7W0	ZN618_HUMAN					10	913	+			UPI000046FD4E	272			C2H2-type 3.		SNV	ZNF618,missense_variant,p.Gln260Lys,ENST00000288466,NM_133374.2;ZNF618,missense_variant,p.Gln272Lys,ENST00000374126,;ZNF618,missense_variant,p.Gln260Lys,ENST00000374124,;ZNF618,missense_variant,p.Gln248Lys,ENST00000452710,;ZNF618,non_coding_transcript_exon_variant,,ENST00000481558,;	uc004bid.2	c.814C>A	913/3018	1	1			c.814C>A						9	SNP	c.(814-816)CAG>AAG	61	61				0	Broad	zinc finger protein 618			116779034		0.572	ENSG00000157657	17781	g.chr9:116779034C>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							4.972838	KEEP	3	1	0.25	20	16	3	1	0.25	10.107762	20	16	0.114286	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF618_uc004bib.1_Missense_Mutation_p.Q240K|ZNF618_uc004bic.2_Missense_Mutation_p.Q260K|ZNF618_uc011lxi.1_Missense_Mutation_p.Q240K|ZNF618_uc011lxj.1_Missense_Mutation_p.Q240K	55	GBM-06-0238-TP	p.Q272K	C	CACTCCCTACCAGGAGCATGT	NM_133374	NP_588615	116779034	Q5T7W0	ZN618_HUMAN	0			10	913	+	A	A			Missense_Mutation	272			C2H2-type 3.			
ZNF618	114991	broad.mit.edu	GRCh37	9	116798608	116798608	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-			TCGA-06-5418-01	TCGA-06-5418-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000288466.7:c.919del	p.Gln307SerfsTer35	p.Q307Sfs*35	ENST00000288466	NM_133374.2	306	atC/at	0			1			-	I/X	uc004bid.2	protein_coding					1197/2865										0	c.(1195-1197)ATCfs			Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13912,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24383,hmmpanther:PTHR24383:SF12,PROSITE_profiles:PS50157	zinc finger protein 618				ENSP00000363241		13/15										13/15	.		ENST00000374126	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000157657	g.chr9:116798608delC	29416	1		HIGH								--	--	1																																		ZNF618_uc004bic.2_Frame_Shift_Del_p.I306fs|ZNF618_uc011lxi.1_Frame_Shift_Del_p.I366fs|ZNF618_uc011lxj.1_Frame_Shift_Del_p.I367fs|ZNF618_uc010mvb.2_5'UTR					p.I399fs	NM_133374	NP_588615				ZN618_HUMAN	ZNF618	HGNC	Q5T7W0	ZN618_HUMAN					13	1296	+			UPI000046FD4E	399			C2H2-type 4.		deletion	ZNF618,frameshift_variant,p.Gln307SerfsTer35,ENST00000288466,NM_133374.2;ZNF618,frameshift_variant,p.Gln400SerfsTer35,ENST00000374126,;ZNF618,downstream_gene_variant,,ENST00000374124,;ZNF618,downstream_gene_variant,,ENST00000452710,;ZNF618,non_coding_transcript_exon_variant,,ENST00000470105,;	uc004bid.2	c.1197delC	1296/3018	5	5			c.1197delC						9	DEL	c.(1195-1197)ATCfs	52	52				0	Broad	zinc finger protein 618			116798608		0.582	ENSG00000157657	17781	g.chr9:116798608delC	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding																				0.33	1	1	0	1	0	0	0	0	0	--	--		0	-			ZNF618_uc004bic.2_Frame_Shift_Del_p.I306fs|ZNF618_uc011lxi.1_Frame_Shift_Del_p.I366fs|ZNF618_uc011lxj.1_Frame_Shift_Del_p.I367fs|ZNF618_uc010mvb.2_5'UTR	100	GBM-06-5418-TP	p.I399fs	C	CCTGTGGGATCCAGTTCCAGT	NM_133374	NP_588615	116798608	Q5T7W0	ZN618_HUMAN	0			13	1296	+	-	-			Frame_Shift_Del	399			C2H2-type 4.			
ZNF618	0	broad.mit.edu	GRCh37	9	116811355	116811355	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374126.5:c.1773C>T	p.Ser591=	p.S591=	ENST00000374126		591	agC/agT	0	T:0.0002	T:0.0008	1	T:0		T	S	uc004bid.2	protein_coding					1773/2865										0	c.(1771-1773)AGC>AGT			Superfamily_domains:SSF53098,hmmpanther:PTHR24383,hmmpanther:PTHR24383:SF12	zinc finger protein 618		T:0	T:0	ENSP00000363241	T:0	15/15	3.30E-05	0.000206		0.000117				6.06E-05	rs376102134,COSM2154308,COSM2154306,COSM2154307	15/15	.		ENST00000374126	Transcript		T:0.0002	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000157657	g.chr9:116811355C>T	29416			LOW								--	--	1																																		ZNF618_uc004bic.2_Silent_p.S498S|ZNF618_uc011lxi.1_Silent_p.S558S|ZNF618_uc011lxj.1_Silent_p.S559S|ZNF618_uc010mvb.2_Silent_p.S181S	0,1,1,1				p.S591S	NM_133374	NP_588615	T:0		0,1,1,1	ZN618_HUMAN	ZNF618	HGNC	Q5T7W0	ZN618_HUMAN					15	1872	+			UPI000046FD4E	591					SNV	ZNF618,synonymous_variant,p.=,ENST00000288466,NM_133374.2;ZNF618,synonymous_variant,p.=,ENST00000374126,;ZNF618,non_coding_transcript_exon_variant,,ENST00000470105,;	uc004bid.2	c.1773C>T	1872/3018	1	1			c.1773C>T						9	SNP	c.(1771-1773)AGC>AGT	1	1				0	Broad	zinc finger protein 618			116811355		0.592	ENSG00000157657	17781	g.chr9:116811355C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							255.702298	KEEP	63	29	-1	61	43	63	29	-1	255.893964	61	43	0.465608	1	0	0	0	0	0	0	1	0	--	--		0	T			ZNF618_uc004bic.2_Silent_p.S498S|ZNF618_uc011lxi.1_Silent_p.S558S|ZNF618_uc011lxj.1_Silent_p.S559S|ZNF618_uc010mvb.2_Silent_p.S181S	122	GBM-12-0692-TP	p.S591S	C	TTCGCGACAGCGGTGACCTTG	NM_133374	NP_588615	116811355	Q5T7W0	ZN618_HUMAN	0			15	1872	+	T	T			Silent	591						
ZNF618	0	broad.mit.edu	GRCh37	9	116731434	116731434	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs143368881	by1000genomes	TCGA-12-5301-01	TCGA-12-5301-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374126.5:c.71C>T	p.Ala24Val	p.A24V	ENST00000374126		24	gCg/gTg	0	T:0	T:0	1	T:0		T	A/V	uc004bid.2	protein_coding					71/2865										0	c.(70-72)GCG>GTG			hmmpanther:PTHR24383,hmmpanther:PTHR24383:SF12	zinc finger protein 618		T:0	T:0.0001	ENSP00000363241	T:0.001	15-Feb	6.61E-05				0.000151	8.99E-05		6.06E-05	rs143368881,COSM1459453,COSM1459451,COSM1459452	15-Feb	.		ENST00000374126	Transcript		T:0.0002	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000157657	g.chr9:116731434C>T	29416			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=B5MDS3_HUMAN&rb=1&re=114&var=A24V	NA	getma.org/?cm=var&var=hg19,9,116731434,C,T&fts=all	A24V	--	--	1																																		ZNF618_uc004bib.1_Missense_Mutation_p.A24V|ZNF618_uc004bic.2_Missense_Mutation_p.A24V|ZNF618_uc011lxi.1_Missense_Mutation_p.A24V|ZNF618_uc011lxj.1_Missense_Mutation_p.A24V	0,1,1,1			benign(0)	p.A24V	NM_133374	NP_588615	T:0	tolerated_low_confidence(1)	0,1,1,1	ZN618_HUMAN	ZNF618	HGNC	Q5T7W0	ZN618_HUMAN					2	170	+			UPI000046FD4E	24					SNV	ZNF618,missense_variant,p.Ala24Val,ENST00000288466,NM_133374.2;ZNF618,missense_variant,p.Ala24Val,ENST00000374126,;ZNF618,missense_variant,p.Ala24Val,ENST00000374124,;ZNF618,missense_variant,p.Ala24Val,ENST00000452710,;ZNF618,non_coding_transcript_exon_variant,,ENST00000481558,;	uc004bid.2	c.71C>T	170/3018	1	1			c.71C>T						9	SNP	c.(70-72)GCG>GTG	2	2				0	Broad	zinc finger protein 618			116731434		0.557	ENSG00000157657	17781	g.chr9:116731434C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							317.425682	KEEP	76	71	-1	112	88	76	71	-1	318.752946	112	88	0.426056	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF618_uc004bib.1_Missense_Mutation_p.A24V|ZNF618_uc004bic.2_Missense_Mutation_p.A24V|ZNF618_uc011lxi.1_Missense_Mutation_p.A24V|ZNF618_uc011lxj.1_Missense_Mutation_p.A24V	131	GBM-12-5301-TP	p.A24V	C	AAAAGCACTGCGAGCAGGTAC	NM_133374	NP_588615	116731434	Q5T7W0	ZN618_HUMAN	0			2	170	+	T	T			Missense_Mutation	24						
ZNF618	0	broad.mit.edu	GRCh37	9	116750724	116750724	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-14-0790-01	TCGA-14-0790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374126.5:c.201C>T	p.Pro67=	p.P67=	ENST00000374126		67	ccC/ccT	0			1			T	P	uc004bid.2	protein_coding					201/2865										0	c.(199-201)CCC>CCT			hmmpanther:PTHR24383,hmmpanther:PTHR24383:SF12	zinc finger protein 618				ENSP00000363241		15-Mar									COSM3413279,COSM3413277,COSM3413278	15-Mar	.		ENST00000374126	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000157657	g.chr9:116750724C>T	29416			LOW								--	--	1																																		ZNF618_uc004bib.1_Silent_p.P67P|ZNF618_uc004bic.2_Silent_p.P67P|ZNF618_uc011lxi.1_Silent_p.P67P|ZNF618_uc011lxj.1_Silent_p.P67P	1,1,1				p.P67P	NM_133374	NP_588615			1,1,1	ZN618_HUMAN	ZNF618	HGNC	Q5T7W0	ZN618_HUMAN					3	300	+			UPI000046FD4E	67					SNV	ZNF618,synonymous_variant,p.=,ENST00000288466,NM_133374.2;ZNF618,synonymous_variant,p.=,ENST00000374126,;ZNF618,synonymous_variant,p.=,ENST00000374124,;ZNF618,synonymous_variant,p.=,ENST00000452710,;ZNF618,non_coding_transcript_exon_variant,,ENST00000481558,;	uc004bid.2	c.201C>T	300/3018	1	1			c.201C>T						9	SNP	c.(199-201)CCC>CCT	10	10				0	Broad	zinc finger protein 618			116750724		0.632	ENSG00000157657	17781	g.chr9:116750724C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							96.375258	KEEP	15	20	-1	9	11	15	20	-1	97.060774	9	11	0.630435	1	0	0	0	0	0	0	1	0	--	--		0	T			ZNF618_uc004bib.1_Silent_p.P67P|ZNF618_uc004bic.2_Silent_p.P67P|ZNF618_uc011lxi.1_Silent_p.P67P|ZNF618_uc011lxj.1_Silent_p.P67P	137	GBM-14-0790-TP	p.P67P	C	CAGAGCTGCCCGATGACTACA	NM_133374	NP_588615	116750724	Q5T7W0	ZN618_HUMAN	0			3	300	+	T	T			Silent	67						
ZNF618	0	broad.mit.edu	GRCh37	9	116811982	116811982	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-27-2521-01	TCGA-27-2521-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374126.5:c.2400G>T	p.Pro800=	p.P800=	ENST00000374126		800	ccG/ccT	0			1			T	P	uc004bid.2	protein_coding					2400/2865										0	c.(2398-2400)CCG>CCT			Superfamily_domains:SSF53098,hmmpanther:PTHR24383,hmmpanther:PTHR24383:SF12	zinc finger protein 618				ENSP00000363241		15/15									COSM3413288,COSM3413286,COSM3413287	15/15	.		ENST00000374126	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000157657	g.chr9:116811982G>T	29416			LOW								--	--	1																																		ZNF618_uc004bic.2_Silent_p.P707P|ZNF618_uc011lxi.1_Silent_p.P767P|ZNF618_uc011lxj.1_Silent_p.P768P|ZNF618_uc010mvb.2_Silent_p.P390P	1,1,1				p.P800P	NM_133374	NP_588615			1,1,1	ZN618_HUMAN	ZNF618	HGNC	Q5T7W0	ZN618_HUMAN					15	2499	+			UPI000046FD4E	800					SNV	ZNF618,synonymous_variant,p.=,ENST00000288466,NM_133374.2;ZNF618,synonymous_variant,p.=,ENST00000374126,;ZNF618,non_coding_transcript_exon_variant,,ENST00000470105,;	uc004bid.2	c.2400G>T	2499/3018	2	2			c.2400G>T						9	SNP	c.(2398-2400)CCG>CCT	28	28				0	Broad	zinc finger protein 618			116811982		0.612	ENSG00000157657	17781	g.chr9:116811982G>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							3.121953	KEEP	2	5	0.285714286	37	44	2	5	0.285714286	17.361486	37	44	0.085366	1	0	0	0	0	0	0	1	0	--	--		0	T			ZNF618_uc004bic.2_Silent_p.P707P|ZNF618_uc011lxi.1_Silent_p.P767P|ZNF618_uc011lxj.1_Silent_p.P768P|ZNF618_uc010mvb.2_Silent_p.P390P	200	GBM-27-2521-TP	p.P800P	G	AGGTGCACCCGGCCCACAAGG	NM_133374	NP_588615	116811982	Q5T7W0	ZN618_HUMAN	0			15	2499	+	T	T			Silent	800						
ZNF618	0	broad.mit.edu	GRCh37	9	116810979	116810979	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01	TCGA-28-5219-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000374126.5:c.1397G>A	p.Arg466Gln	p.R466Q	ENST00000374126		466	cGg/cAg	0	A:0		1			A	R/Q	uc004bid.2	protein_coding					1397/2865										0	c.(1396-1398)CGG>CAG			Superfamily_domains:0052064,hmmpanther:PTHR24383,hmmpanther:PTHR24383:SF12	zinc finger protein 618			A:0.0001	ENSP00000363241		15/15	1.65E-05					3.00E-05			rs371074016,COSM3413285,COSM3413283,COSM3413284	15/15	.		ENST00000374126	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000157657	g.chr9:116810979G>A	29416			MODERATE								--	--	1																																		ZNF618_uc004bic.2_Missense_Mutation_p.R373Q|ZNF618_uc011lxi.1_Missense_Mutation_p.R433Q|ZNF618_uc011lxj.1_Missense_Mutation_p.R434Q|ZNF618_uc010mvb.2_Missense_Mutation_p.R56Q	0,1,1,1			probably_damaging(0.996)	p.R466Q	NM_133374	NP_588615		deleterious(0.01)	0,1,1,1	ZN618_HUMAN	ZNF618	HGNC	Q5T7W0	ZN618_HUMAN					15	1496	+			UPI000046FD4E	466					SNV	ZNF618,missense_variant,p.Arg373Gln,ENST00000288466,NM_133374.2;ZNF618,missense_variant,p.Arg466Gln,ENST00000374126,;ZNF618,non_coding_transcript_exon_variant,,ENST00000470105,;	uc004bid.2	c.1397G>A	1496/3018	2	2			c.1397G>A						9	SNP	c.(1396-1398)CGG>CAG	36	36				0	Broad	zinc finger protein 618			116810979		0.552	ENSG00000157657	17781	g.chr9:116810979G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							126.035646	KEEP	32	24	-1	58	49	32	24	-1	128.937134	58	49	0.336066	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF618_uc004bic.2_Missense_Mutation_p.R373Q|ZNF618_uc011lxi.1_Missense_Mutation_p.R433Q|ZNF618_uc011lxj.1_Missense_Mutation_p.R434Q|ZNF618_uc010mvb.2_Missense_Mutation_p.R56Q	225	GBM-28-5219-TP	p.R466Q	G	GAAAAGGAGCGGCAGAACATC	NM_133374	NP_588615	116810979	Q5T7W0	ZN618_HUMAN	0			15	1496	+	A	A			Missense_Mutation	466						
ZNF622	0	broad.mit.edu	GRCh37	5	16453250	16453250	+	missense_variant	Missense_Mutation	SNP	T	T	A			TCGA-32-1991-01	TCGA-32-1991-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000308683.2:c.1178A>T	p.His393Leu	p.H393L	ENST00000308683	NM_033414.2	393	cAt/cTt	0			1			A	H/L	uc003jfq.2	protein_coding	YES	CCDS3886.1			1178/1434									ovary(1)	1	c.(1177-1179)CAT>CTT			hmmpanther:PTHR13182	zinc finger protein 622				ENSP00000310042		6-May	1.65E-05							0.000168	rs767955612,COSM3410093	6-May	.		ENST00000308683	Transcript				cytoplasm|nucleus	nucleic acid binding|zinc ion binding	ENSG00000173545	g.chr5:16453250T>A	30958			MODERATE		3.59	high	getma.org/?cm=msa&ty=f&p=ZN622_HUMAN&rb=355&re=477&var=H393L	NA	getma.org/?cm=var&var=hg19,5,16453250,T,A&fts=all	H393L	--	--	1																																			0,1	1		possibly_damaging(0.694)	p.H393L	NM_033414	NP_219482		deleterious(0)	0,1	ZN622_HUMAN	ZNF622	HGNC	Q969S3	ZN622_HUMAN					5	1298	-			UPI0000072102	393					SNV	ZNF622,missense_variant,p.His393Leu,ENST00000308683,NM_033414.2;	uc003jfq.2	c.1178A>T	1305/1699	2	2			c.1178A>T						5	SNP	c.(1177-1179)CAT>CTT	48	48			ovary(1)	1	Broad	zinc finger protein 622			16453250		0.463	ENSG00000173545	17785	g.chr5:16453250T>A		cytoplasm|nucleus	nucleic acid binding|zinc ion binding							447.806311	KEEP	90	78	-1	130	136	90	78	-1	451.763055	130	136	0.387006	1	0	0	0	0	1	0	0	0	--	--		0	A				234	GBM-32-1991-TP	p.H393L	T	CAAGGAGCGATGACCCACTCT	NM_033414	NP_219482	16453250	Q969S3	ZN622_HUMAN	0			5	1298	-	A	A			Missense_Mutation	393						
ZNF623	9831	broad.mit.edu	GRCh37	8	144732159	144732159	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000501748.2:c.117G>A	p.Thr39=	p.T39=	ENST00000501748	NM_014789.3	39	acG/acA	0		A:0.0008	1	A:0		A	T	uc003yzd.2	protein_coding	YES	CCDS34957.1			117/1611										0	c.(115-117)ACG>ACA				zinc finger protein 623 isoform 1		A:0		ENSP00000445979	A:0	1-Jan	3.29E-05	9.64E-05	0.000259						rs201671001,COSM1096989	1-Jan	.		ENST00000501748	Transcript		A:0.0002	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000183309	g.chr8:144732159G>A	29084			LOW								--	--	1																																		ZNF623_uc011lkp.1_5'UTR|ZNF623_uc003yzc.2_5'UTR	0,1	1			p.T39T	NM_014789	NP_055604	A:0		0,1	ZN623_HUMAN	ZNF623	HGNC	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)				1	206	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		UPI00001AF7CB	39					SNV	ZNF623,synonymous_variant,p.=,ENST00000501748,NM_014789.3;ZNF623,5_prime_UTR_variant,,ENST00000458270,NM_001082480.2;ZNF623,5_prime_UTR_variant,,ENST00000526926,NM_001261843.1;RNU7-109P,upstream_gene_variant,,ENST00000516266,;	uc003yzd.2	c.117G>A	206/3947	1	1			c.117G>A						8	SNP	c.(115-117)ACG>ACA	63	63				0	Broad	zinc finger protein 623 isoform 1			144732159		0.522	ENSG00000183309	17786	g.chr8:144732159G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							259.668624	KEEP	34	48	-1	16	14	34	48	-1	264.501504	16	14	0.728155	1	0	0	0	0	0	0	1	0	--	--		0	A			ZNF623_uc011lkp.1_5'UTR|ZNF623_uc003yzc.2_5'UTR	102	GBM-06-5858-TP	p.T39T	G	ACAGACTCACGGTGATGGAGC	NM_014789	NP_055604	144732159	O75123	ZN623_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	206	+	A	A	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Silent	39						
ZNF623	0	broad.mit.edu	GRCh37	8	144733275	144733275	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-4211-01	TCGA-32-4211-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000501748.2:c.1233G>A	p.Ala411=	p.A411=	ENST00000501748	NM_014789.3	411	gcG/gcA	0		A:0.0008	1	A:0		A	A	uc003yzd.2	protein_coding	YES	CCDS34957.1			1233/1611										0	c.(1231-1233)GCG>GCA			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF244,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	zinc finger protein 623 isoform 1		A:0		ENSP00000445979	A:0	1-Jan	2.47E-05	9.62E-05				3.00E-05			rs530640705,COSM2157354	1-Jan	.		ENST00000501748	Transcript		A:0.0002	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000183309	g.chr8:144733275G>A	29084			LOW								--	--	1																																		ZNF623_uc011lkp.1_Silent_p.A371A|ZNF623_uc003yzc.2_Silent_p.A371A	0,1	1			p.A411A	NM_014789	NP_055604	A:0		0,1	ZN623_HUMAN	ZNF623	HGNC	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)				1	1322	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		UPI00001AF7CB	411			C2H2-type 11.		SNV	ZNF623,synonymous_variant,p.=,ENST00000501748,NM_014789.3;ZNF623,synonymous_variant,p.=,ENST00000458270,NM_001082480.2;ZNF623,synonymous_variant,p.=,ENST00000526926,NM_001261843.1;	uc003yzd.2	c.1233G>A	1322/3947	2	2			c.1233G>A						8	SNP	c.(1231-1233)GCG>GCA	26	26				0	Broad	zinc finger protein 623 isoform 1			144733275		0.478	ENSG00000183309	17786	g.chr8:144733275G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							158.980775	KEEP	32	28	-1	83	66	32	28	-1	166.130704	83	66	0.297436	1	0	0	0	0	0	0	1	0	--	--		0	A			ZNF623_uc011lkp.1_Silent_p.A371A|ZNF623_uc003yzc.2_Silent_p.A371A	246	GBM-32-4211-TP	p.A411A	G	GTGGGAAAGCGTTTCTCCAGA	NM_014789	NP_055604	144733275	O75123	ZN623_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	1322	+	A	A	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Silent	411			C2H2-type 11.			
ZNF623	0	broad.mit.edu	GRCh37	8	144732707	144732707	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-5222-01	TCGA-32-5222-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000501748.2:c.665T>C	p.Leu222Pro	p.L222P	ENST00000501748	NM_014789.3	222	cTg/cCg	0			1			C	L/P	uc003yzd.2	protein_coding	YES	CCDS34957.1			665/1611										0	c.(664-666)CTG>CCG			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF244,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 623 isoform 1				ENSP00000445979		1-Jan									COSM3412805	1-Jan	.		ENST00000501748	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000183309	g.chr8:144732707T>C	29084			MODERATE		3.605	high	getma.org/?cm=msa&ty=f&p=ZN623_HUMAN&rb=201&re=266&var=L222P	getma.org/pdb.php?prot=ZN623_HUMAN&from=221&to=246&var=L222P	getma.org/?cm=var&var=hg19,8,144732707,T,C&fts=all	L222P	--	--	1																																		ZNF623_uc011lkp.1_Missense_Mutation_p.L182P|ZNF623_uc003yzc.2_Missense_Mutation_p.L182P	1	1		probably_damaging(0.998)	p.L222P	NM_014789	NP_055604		deleterious(0)	1	ZN623_HUMAN	ZNF623	HGNC	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)				1	754	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		UPI00001AF7CB	222			C2H2-type 4.		SNV	ZNF623,missense_variant,p.Leu222Pro,ENST00000501748,NM_014789.3;ZNF623,missense_variant,p.Leu182Pro,ENST00000458270,NM_001082480.2;ZNF623,missense_variant,p.Leu182Pro,ENST00000526926,NM_001261843.1;RNU7-109P,upstream_gene_variant,,ENST00000516266,;	uc003yzd.2	c.665T>C	754/3947	4	4			c.665T>C						8	SNP	c.(664-666)CTG>CCG	38	38				0	Broad	zinc finger protein 623 isoform 1			144732707		0.478	ENSG00000183309	17786	g.chr8:144732707T>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-43.449971	KEEP	2	1	-1	108	100	2	1	-1	6.451385	108	100	0.015957	1	0	0	0	0	1	0	0	0	--	--		0	C			ZNF623_uc011lkp.1_Missense_Mutation_p.L182P|ZNF623_uc003yzc.2_Missense_Mutation_p.L182P	249	GBM-32-5222-TP	p.L222P	T	AGTTCAGACCTGATTAGGCAC	NM_014789	NP_055604	144732707	O75123	ZN623_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	754	+	C	C	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	222			C2H2-type 4.			
ZNF625	0	broad.mit.edu	GRCh37	19	12256527	12256527	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-5207-01	TCGA-28-5207-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000439556.2:c.704G>A	p.Arg235Gln	p.R235Q	ENST00000439556		235	cGa/cAa	0			1			T	R/Q	uc002mth.2	protein_coding	YES	CCDS12269.2			704/1119										0	c.(505-507)CGA>CAA			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF73,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 625				ENSP00000394380		4-Apr	1.65E-05					1.50E-05		6.06E-05	rs750463530,COSM991186,COSM180981	4-Apr	.		ENST00000439556	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000257591	g.chr19:12256527C>T	30571			MODERATE		0.625	neutral	getma.org/?cm=msa&ty=f&p=ZN625_HUMAN&rb=147&re=212&var=R169Q	getma.org/pdb.php?prot=ZN625_HUMAN&from=167&to=192&var=R169Q	getma.org/?cm=var&var=hg19,19,12256527,C,T&fts=all	R169Q	--	--	1																																		ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Missense_Mutation_p.R203Q	0,1,1	1		benign(0.07)	p.R169Q	NM_145233	NP_660276		tolerated(0.55)	0,1,1	ZN625_HUMAN	ZNF625	HGNC	Q96I27	ZN625_HUMAN					4	856	-			UPI0000EE608F	169			C2H2-type 5.		SNV	ZNF625,missense_variant,p.Arg169Gln,ENST00000355738,;ZNF625,missense_variant,p.Arg169Gln,ENST00000542938,;ZNF625,missense_variant,p.Arg235Gln,ENST00000439556,;ZNF625,3_prime_UTR_variant,,ENST00000455799,NM_145233.3;ZNF625,intron_variant,,ENST00000414892,;CTC-359D24.3,upstream_gene_variant,,ENST00000472362,;ZNF625-ZNF20,3_prime_UTR_variant,,ENST00000434822,;ZNF625-ZNF20,intron_variant,,ENST00000430024,;CTC-359D24.3,upstream_gene_variant,,ENST00000486612,;	uc002mth.2	c.506G>A	875/1322	2	2			c.506G>A						19	SNP	c.(505-507)CGA>CAA	48	48				0	Broad	zinc finger protein 625			12256527		0.408	ENSG00000257591	17788	g.chr19:12256527C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-42.171882	KEEP	2	2	-1	108	101	2	2	-1	6.308476	108	101	0.021164	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Missense_Mutation_p.R203Q	216	GBM-28-5207-TP	p.R169Q	C	TTCATGTATTCGAAGGCTACC	NM_145233	NP_660276	12256527	Q96I27	ZN625_HUMAN	0			4	856	-	T	T			Missense_Mutation	169			C2H2-type 5.			
ZNF626	199777		GRCh37	19	20807475	20807475	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000601440.1:c.1208G>C	p.Gly403Ala	p.G403A	ENST00000601440	NM_001076675.2	403	gGc/gCc	0																																																																																																																																																																																																																																												
ZNF626	199777		GRCh37	19	20807460	20807460	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-6694-01	TCGA-06-6694-01																				ENST00000601440.1:c.1223A>G	p.Tyr408Cys	p.Y408C	ENST00000601440	NM_001076675.2	408	tAc/tGc	0																																																																																																																																																																																																																																												
ZNF629	0	broad.mit.edu	GRCh37	16	30795519	30795519	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-28-6450-01	TCGA-28-6450-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000262525.4:c.130A>C	p.Ile44Leu	p.I44L	ENST00000262525	NM_001080417.1	44	Atc/Ctc	0			1			G	I/L	uc002dzs.1	protein_coding	YES	CCDS45463.1			130/2610										0	c.(130-132)ATC>CTC			hmmpanther:PTHR24377:SF286,hmmpanther:PTHR24377	zinc finger protein 629				ENSP00000262525		3-Mar									COSM3747997	3-Mar	.		ENST00000262525	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000102870	g.chr16:30795519T>G	29008			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=ZN629_HUMAN&rb=1&re=149&var=I44L	NA	getma.org/?cm=var&var=hg19,16,30795519,T,G&fts=all	I44L	--	--	1																																			1	1		benign(0)	p.I44L	NM_001080417	NP_001073886		tolerated_low_confidence(0.18)	1	ZN629_HUMAN	ZNF629	HGNC	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)				3	338	-			UPI00001C1FA5	44					SNV	ZNF629,missense_variant,p.Ile44Leu,ENST00000262525,NM_001080417.1;RP11-2C24.6,downstream_gene_variant,,ENST00000575562,;	uc002dzs.1	c.130A>C	338/6079	3	3			c.130A>C						16	SNP	c.(130-132)ATC>CTC	11	11				0	Broad	zinc finger protein 629			30795519		0.577	ENSG00000102870	17792	g.chr16:30795519T>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							20.037376	KEEP	3	5	-1	10	10	3	5	-1	20.957505	10	10	0.291667	1	0	0	0	0	1	0	0	0	--	--		0	G				227	GBM-28-6450-TP	p.I44L	T	CCCATGATGATCTCCTCCCCA	NM_001080417	NP_001073886	30795519	Q9UEG4	ZN629_HUMAN	0	Colorectal(24;0.198)		3	338	-	G	G			Missense_Mutation	44						
ZNF630	0	broad.mit.edu	GRCh37	X	47918931	47918931	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-28-5215-01	TCGA-28-5215-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000409324.3:c.900C>G	p.Phe300Leu	p.F300L	ENST00000409324	NM_001037735.2	300	ttC/ttG	0			1			C	F/L	uc004div.3	protein_coding	YES	CCDS35237.2			900/1974									ovary(1)|lung(1)	2	c.(898-900)TTC>TTG			PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF216,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 630				ENSP00000386393		5-May									COSM3406403	5-May	.		ENST00000409324	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000221994	g.chrX:47918931G>C	28855			MODERATE		3.325	medium	getma.org/?cm=msa&ty=f&p=ZN630_HUMAN&rb=257&re=322&var=F300L	getma.org/pdb.php?prot=ZN630_HUMAN&from=277&to=302&var=F300L	getma.org/?cm=var&var=hg19,X,47918931,G,C&fts=all	F300L	--	--	1																																		ZNF630_uc010nhz.1_Intron|ZNF630_uc004diw.2_Missense_Mutation_p.F176L	1	1		benign(0.035)	p.F300L	NM_001037735	NP_001032824		deleterious(0.01)	1	ZN630_HUMAN	ZNF630	HGNC	Q2M218	ZN630_HUMAN			B2ZWH0_HUMAN,B2ZWG9_HUMAN,B2ZWG8_HUMAN		5	1152	-			UPI0000160BE4	300			C2H2-type 2.		SNV	ZNF630,missense_variant,p.Phe176Leu,ENST00000276054,;ZNF630,missense_variant,p.Phe286Leu,ENST00000442455,NM_001190255.1;ZNF630,missense_variant,p.Phe300Leu,ENST00000409324,NM_001037735.2;ZNF630,downstream_gene_variant,,ENST00000428686,;ZNF630,downstream_gene_variant,,ENST00000421903,;ZNF630-AS1,intron_variant,,ENST00000436124,;ZNF630,intron_variant,,ENST00000428463,;	uc004div.3	c.900C>G	1127/2455	3	3			c.900C>G						23	SNP	c.(898-900)TTC>TTG	14	14			ovary(1)|lung(1)	2	Broad	zinc finger protein 630			47918931		0.413	ENSG00000221994	17793	g.chrX:47918931G>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							231.369179	KEEP	44	33	-1	91	89	44	33	-1	239.220849	91	89	0.304348	1	0	0	0	0	1	0	0	0	--	--		0	C			ZNF630_uc010nhz.1_Intron|ZNF630_uc004diw.2_Missense_Mutation_p.F176L	222	GBM-28-5215-TP	p.F300L	G	ATTTCTCACTGAAGGCTTTCC	NM_001037735	NP_001032824	47918931	Q2M218	ZN630_HUMAN	0			5	1152	-	C	C			Missense_Mutation	300			C2H2-type 2.			
ZNF638	27332		GRCh37	2	71576267	71576267	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000409544.1:c.183T>C	p.Tyr61=	p.Y61=	ENST00000409544	NM_001252612.1	61	taT/taC	0																																																																																																																																																																																																																																												
ZNF644	84146	broad.mit.edu	GRCh37	1	91405171	91405171	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-06-0128-01	TCGA-06-0128-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370440.1:c.1740C>G	p.Ser580=	p.S580=	ENST00000370440		580	tcC/tcG	0			1			C	S	uc001dnw.2	protein_coding		CCDS731.1			1740/3984									ovary(1)|breast(1)|skin(1)	3	c.(1738-1740)TCC>TCG			hmmpanther:PTHR24402:SF180,hmmpanther:PTHR24402	zinc finger protein 644 isoform 1				ENSP00000337008		6-Mar									COSM2149493	6-Mar	.		ENST00000337393	Transcript	1		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000122482	g.chr1:91405171G>C	29222			LOW								--	--	1																																		ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Silent_p.S580S	1				p.S580S	NM_201269	NP_958357			1	ZN644_HUMAN	ZNF644	HGNC	Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	Q9NVH8_HUMAN,Q9H8J8_HUMAN,Q8NEI6_HUMAN		3	1882	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	UPI000004A010	580					SNV	ZNF644,synonymous_variant,p.=,ENST00000370440,;ZNF644,synonymous_variant,p.=,ENST00000337393,NM_201269.2;ZNF644,intron_variant,,ENST00000347275,NM_016620.3;ZNF644,intron_variant,,ENST00000361321,NM_032186.4;ZNF644,intron_variant,,ENST00000467231,;ZNF644,upstream_gene_variant,,ENST00000479798,;ZNF644,downstream_gene_variant,,ENST00000498303,;	uc001dnw.2	c.1740C>G	1981/5683	3	3			c.1740C>G						1	SNP	c.(1738-1740)TCC>TCG	14	14			ovary(1)|breast(1)|skin(1)	3	Broad	zinc finger protein 644 isoform 1			91405171		0.383	ENSG00000122482	17799	g.chr1:91405171G>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							412.304385	KEEP	62	89	-1	152	104	62	89	-1	417.040254	152	104	0.376068	1	0	0	0	0	0	0	1	0	--	--		0	C			ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Silent_p.S580S	14	GBM-06-0128-TP	p.S580S	G	CTGATTTTTTGGATGATCCTA	NM_201269	NP_958357	91405171	Q9H582	ZN644_HUMAN	0		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	1882	-	C	C		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	Silent	580						
ZNF644	0	broad.mit.edu	GRCh37	1	91403294	91403296	+	inframe_deletion	In_Frame_Del	DEL	CTT	CTT	-			TCGA-19-2629-01	TCGA-19-2629-01	CTT	CTT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337393.5:c.3434_3436delAAG	p.Glu1145del	p.E1145del	ENST00000337393	NM_201269.2	1145	gAAGgg/ggg	0			1			-	EG/G	uc001dnw.2	protein_coding		CCDS731.1			3434-3436/3984									ovary(1)|breast(1)|skin(1)	3	c.(3433-3438)GAAGGG>GGG			hmmpanther:PTHR24402:SF180,hmmpanther:PTHR24402	zinc finger protein 644 isoform 1				ENSP00000337008		6-Apr									rs748443944,COSM913141	6-Apr	.		ENST00000337393	Transcript	1		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000122482	g.chr1:91403294_91403296delCTT	29222			MODERATE								--	--	1																																		ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron	0,1				p.E1145del	NM_201269	NP_958357			0,1	ZN644_HUMAN	ZNF644	HGNC	Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	Q9NVH8_HUMAN,Q9H8J8_HUMAN,Q8NEI6_HUMAN		4	3576_3578	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	UPI000004A010	1145					deletion	ZNF644,inframe_deletion,p.Glu1145del,ENST00000370440,;ZNF644,inframe_deletion,p.Glu1145del,ENST00000337393,NM_201269.2;ZNF644,intron_variant,,ENST00000347275,NM_016620.3;ZNF644,intron_variant,,ENST00000361321,NM_032186.4;ZNF644,intron_variant,,ENST00000467231,;ZNF644,upstream_gene_variant,,ENST00000479798,;ZNF644,downstream_gene_variant,,ENST00000498303,;	uc001dnw.2	c.3434_3436delAAG	3675-3677/5683	5	5			c.3434_3436delAAG						1	DEL	c.(3433-3438)GAAGGG>GGG	11	11			ovary(1)|breast(1)|skin(1)	3	Broad	zinc finger protein 644 isoform 1			91403296		0.365	ENSG00000122482	17799	g.chr1:91403294_91403296delCTT	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding																				0.03	1	1	0	1	0	0	0	0	0	--	--		0	-			ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron	166	GBM-19-2629-TP	p.E1145del	CTT	AAATTCAGCCCTTCTTCTTCTGA	NM_201269	NP_958357	91403294	Q9H582	ZN644_HUMAN	0		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	4	3576_3578	-	-	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	In_Frame_Del	1145						
ZNF644	0	broad.mit.edu	GRCh37	1	91404393	91404393	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01	TCGA-26-5136-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000337393.5:c.2518G>A	p.Val840Ile	p.V840I	ENST00000337393	NM_201269.2	840	Gtt/Att	0			1			T	V/I	uc001dnw.2	protein_coding		CCDS731.1			2518/3984						not_provided			ovary(1)|breast(1)|skin(1)	3	c.(2518-2520)GTT>ATT			hmmpanther:PTHR24402:SF180,hmmpanther:PTHR24402	zinc finger protein 644 isoform 1				ENSP00000337008		6-Mar	8.24E-06					1.51E-05			rs267598765,COSM2157149	6-Mar	.		ENST00000337393	Transcript	1		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000122482	g.chr1:91404393C>T	29222			MODERATE		0.975	low	getma.org/?cm=msa&ty=f&p=ZN644_HUMAN&rb=671&re=870&var=V840I	NA	getma.org/?cm=var&var=hg19,1,91404393,C,T&fts=all	V840I	--	--	1																																		ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.V840I	1,1			probably_damaging(0.99)	p.V840I	NM_201269	NP_958357		tolerated(0.13)	0,1	ZN644_HUMAN	ZNF644	HGNC	Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	Q9NVH8_HUMAN,Q9H8J8_HUMAN,Q8NEI6_HUMAN		3	2660	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	UPI000004A010	840					SNV	ZNF644,missense_variant,p.Val840Ile,ENST00000370440,;ZNF644,missense_variant,p.Val840Ile,ENST00000337393,NM_201269.2;ZNF644,intron_variant,,ENST00000347275,NM_016620.3;ZNF644,intron_variant,,ENST00000361321,NM_032186.4;ZNF644,intron_variant,,ENST00000467231,;ZNF644,upstream_gene_variant,,ENST00000479798,;ZNF644,downstream_gene_variant,,ENST00000498303,;	uc001dnw.2	c.2518G>A	2759/5683	2	2			c.2518G>A						1	SNP	c.(2518-2520)GTT>ATT	35	35			ovary(1)|breast(1)|skin(1)	3	Broad	zinc finger protein 644 isoform 1			91404393		0.363	ENSG00000122482	17799	g.chr1:91404393C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							248.494613	KEEP	42	51	-1	83	72	42	51	-1	252.179349	83	72	0.368852	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.V840I	185	GBM-26-5136-TP	p.V840I	C	TTTTGCAAAACGACAACAGTC	NM_201269	NP_958357	91404393	Q9H582	ZN644_HUMAN	0		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	2660	-	T	T		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	Missense_Mutation	840						
ZNF645	0	broad.mit.edu	GRCh37	X	22292090	22292090	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-06-5417-01	TCGA-06-5417-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000323684.1:c.982A>T	p.Ile328Phe	p.I328F	ENST00000323684	NM_152577.3	328	Att/Ttt	0			1			T	I/F	uc004dai.1	protein_coding	YES	CCDS14205.1			982/1278									lung(1)|pancreas(1)	2	c.(982-984)ATT>TTT			hmmpanther:PTHR13480,hmmpanther:PTHR13480:SF1	zinc finger protein 645				ENSP00000323348		1-Jan									COSM3406235	1-Jan	.		ENST00000323684	Transcript				intracellular	zinc ion binding	ENSG00000175809	g.chrX:22292090A>T	26371			MODERATE		1.59	low	getma.org/?cm=msa&ty=f&p=ZN645_HUMAN&rb=201&re=400&var=I328F	NA	getma.org/?cm=var&var=hg19,X,22292090,A,T&fts=all	I328F	--	--	1																																			1	1		possibly_damaging(0.592)	p.I328F	NM_152577	NP_689790		deleterious(0.01)	1	ZN645_HUMAN	ZNF645	HGNC	Q8N7E2	ZN645_HUMAN					1	1031	+			UPI0000073BD5	328			Pro-rich.		SNV	ZNF645,missense_variant,p.Ile328Phe,ENST00000323684,NM_152577.3;RP11-40F8.2,intron_variant,,ENST00000608254,;	uc004dai.1	c.982A>T	1026/1510	1	1			c.982A>T						23	SNP	c.(982-984)ATT>TTT	3	3			lung(1)|pancreas(1)	2	Broad	zinc finger protein 645			22292090		0.438	ENSG00000175809	17800	g.chrX:22292090A>T		intracellular	zinc ion binding							-17.693924	KEEP	2	2	-1	62	57	2	2	-1	8.519236	62	57	0.035714	1	0	0	0	0	1	0	0	0	--	--		0	T				99	GBM-06-5417-TP	p.I328F	A	TGGATATATTATTGTAAAGGT	NM_152577	NP_689790	22292090	Q8N7E2	ZN645_HUMAN	0			1	1031	+	T	T			Missense_Mutation	328			Pro-rich.			
ZNF646	0	broad.mit.edu	GRCh37	16	31091658	31091658	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1986-01	TCGA-32-1986-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394979.2:c.4013G>A	p.Arg1338His	p.R1338H	ENST00000394979		1338	cGc/cAc	0			1			A	R/H	uc002eap.2	protein_coding					4013/5490									breast(2)	2	c.(4012-4014)CGC>CAC			Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF00096,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF182,PROSITE_profiles:PS50157	zinc finger protein 646				ENSP00000378429		1-Jan	4.94E-05		8.70E-05	0.000117		6.14E-05			rs201923917,COSM3402292,COSM3402293	1-Jan	.		ENST00000394979	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	ENSG00000167395	g.chr16:31091658G>A	29004			MODERATE		1.29	low	getma.org/?cm=msa&ty=f&p=ZN646_HUMAN&rb=1306&re=1368&var=R1338H	NA	getma.org/?cm=var&var=hg19,16,31091658,G,A&fts=all	R1338H	--	--	1																																			0,1,1			benign(0.027)	p.R1338H	NM_014699	NP_055514		tolerated(0.6)	0,1,1	ZN646_HUMAN	ZNF646	HGNC	O15015	ZN646_HUMAN			H3BSD0_HUMAN,C9J3L0_HUMAN		2	4302	+			UPI00001395B0	1338			C2H2-type 24.		SNV	ZNF646,missense_variant,p.Arg1338His,ENST00000394979,;ZNF646,missense_variant,p.Arg1338His,ENST00000300850,NM_014699.3;PRSS53,downstream_gene_variant,,ENST00000280606,NM_001039503.2;ZNF646,downstream_gene_variant,,ENST00000428260,;ZNF646,downstream_gene_variant,,ENST00000564189,;PRSS53,downstream_gene_variant,,ENST00000486499,;RP11-196G11.1,downstream_gene_variant,,ENST00000533518,;	uc002eap.2	c.4013G>A	4436/8118	2	2			c.4013G>A						16	SNP	c.(4012-4014)CGC>CAC	38	38			breast(2)	2	Broad	zinc finger protein 646			31091658		0.697	ENSG00000167395	17801	g.chr16:31091658G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding							-8.522308	KEEP	2	1	-1	40	44	2	1	-1	6.315294	40	44	0.044776	1	0	0	0	0	1	0	0	0	--	--		0	A				233	GBM-32-1986-TP	p.R1338H	G	TACTCCAACCGCATGGCCCTG	NM_014699	NP_055514	31091658	O15015	ZN646_HUMAN	0			2	4302	+	A	A			Missense_Mutation	1338			C2H2-type 24.			
ZNF649	65251	broad.mit.edu	GRCh37	19	52394411	52394411	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-06-0128-01	TCGA-06-0128-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354957.3:c.978C>G	p.Gly326=	p.G326=	ENST00000354957	NM_023074.3	326	ggC/ggG	0			1			C	G	uc002pxy.2	protein_coding	YES	CCDS12843.1			978/1518									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(976-978)GGC>GGG			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF24,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 649				ENSP00000347043		5-May									COSM3404517	5-May	.		ENST00000354957	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000198093	g.chr19:52394411G>C	25741			LOW								--	--	1																																		ZNF577_uc010ydf.1_5'Flank	1	1			p.G326G	NM_023074	NP_075562			1	ZN649_HUMAN	ZNF649	HGNC	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	M0R098_HUMAN		5	1246	-		all_neural(266;0.0602)	UPI000006D442	326			C2H2-type 6.		SNV	ZNF649,synonymous_variant,p.=,ENST00000354957,NM_023074.3;ZNF649,synonymous_variant,p.=,ENST00000600738,;ZNF577,upstream_gene_variant,,ENST00000420592,;ZNF577,upstream_gene_variant,,ENST00000301399,NM_032679.2;ZNF577,upstream_gene_variant,,ENST00000458390,;ZNF577,upstream_gene_variant,,ENST00000412216,;ZNF577,upstream_gene_variant,,ENST00000451628,NM_001135590.1;ZNF577,upstream_gene_variant,,ENST00000446514,;ZNF577,upstream_gene_variant,,ENST00000453272,;ZNF577,upstream_gene_variant,,ENST00000419138,;ZNF577,upstream_gene_variant,,ENST00000591320,;ZNF577,upstream_gene_variant,,ENST00000592321,;CTC-429C10.2,intron_variant,,ENST00000600329,;ZNF577,upstream_gene_variant,,ENST00000485702,;ZNF577,upstream_gene_variant,,ENST00000589784,;ZNF577,upstream_gene_variant,,ENST00000484095,;ZNF577,upstream_gene_variant,,ENST00000588878,;ZNF649,downstream_gene_variant,,ENST00000599671,;	uc002pxy.2	c.978C>G	1263/3197	4	4			c.978C>G						19	SNP	c.(976-978)GGC>GGG	35	35			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	zinc finger protein 649			52394411		0.458	ENSG00000198093	17803	g.chr19:52394411G>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							36.822369	KEEP	10	8	-1	55	53	10	8	-1	50.265653	55	53	0.149123	1	0	0	0	0	0	0	1	0	--	--		0	C			ZNF577_uc010ydf.1_5'Flank	14	GBM-06-0128-TP	p.G326G	G	TCTGAATGAAGCCTTTTCCAC	NM_023074	NP_075562	52394411	Q9BS31	ZN649_HUMAN	0		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	1246	-	C	C		all_neural(266;0.0602)	Silent	326			C2H2-type 6.			
ZNF649	65251	broad.mit.edu	GRCh37	19	52394423	52394423	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0128-01	TCGA-06-0128-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354957.3:c.966A>G	p.Glu322=	p.E322=	ENST00000354957	NM_023074.3	322	gaA/gaG	0			1			C	E	uc002pxy.2	protein_coding	YES	CCDS12843.1			966/1518									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(964-966)GAA>GAG			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF24,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 649				ENSP00000347043		5-May									COSM3404518	5-May	.		ENST00000354957	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000198093	g.chr19:52394423T>C	25741			LOW								--	--	1																																		ZNF577_uc010ydf.1_5'Flank	1	1			p.E322E	NM_023074	NP_075562			1	ZN649_HUMAN	ZNF649	HGNC	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	M0R098_HUMAN		5	1234	-		all_neural(266;0.0602)	UPI000006D442	322			C2H2-type 6.		SNV	ZNF649,synonymous_variant,p.=,ENST00000354957,NM_023074.3;ZNF649,synonymous_variant,p.=,ENST00000600738,;ZNF577,upstream_gene_variant,,ENST00000420592,;ZNF577,upstream_gene_variant,,ENST00000301399,NM_032679.2;ZNF577,upstream_gene_variant,,ENST00000458390,;ZNF577,upstream_gene_variant,,ENST00000412216,;ZNF577,upstream_gene_variant,,ENST00000451628,NM_001135590.1;ZNF577,upstream_gene_variant,,ENST00000446514,;ZNF577,upstream_gene_variant,,ENST00000453272,;ZNF577,upstream_gene_variant,,ENST00000419138,;ZNF577,upstream_gene_variant,,ENST00000591320,;ZNF577,upstream_gene_variant,,ENST00000592321,;CTC-429C10.2,intron_variant,,ENST00000600329,;ZNF577,upstream_gene_variant,,ENST00000485702,;ZNF577,upstream_gene_variant,,ENST00000589784,;ZNF577,upstream_gene_variant,,ENST00000484095,;ZNF577,upstream_gene_variant,,ENST00000588878,;ZNF649,downstream_gene_variant,,ENST00000599671,;	uc002pxy.2	c.966A>G	1251/3197	3	3			c.966A>G						19	SNP	c.(964-966)GAA>GAG	7	7			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	zinc finger protein 649			52394423		0.458	ENSG00000198093	17803	g.chr19:52394423T>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							44.693472	KEEP	12	8	-1	54	46	12	8	-1	57.399244	54	46	0.157895	1	0	0	0	0	0	0	1	0	--	--		0	C			ZNF577_uc010ydf.1_5'Flank	14	GBM-06-0128-TP	p.E322E	T	CTTTTCCACATTCACTGCATG	NM_023074	NP_075562	52394423	Q9BS31	ZN649_HUMAN	0		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	1234	-	C	C		all_neural(266;0.0602)	Silent	322			C2H2-type 6.			
ZNF649	0	broad.mit.edu	GRCh37	19	52394397	52394397	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01	TCGA-19-1790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000354957.3:c.992G>A	p.Gly331Asp	p.G331D	ENST00000354957	NM_023074.3	331	gGc/gAc	0			1			T	G/D	uc002pxy.2	protein_coding	YES	CCDS12843.1			992/1518									ovary(1)|central_nervous_system(1)|skin(1)	3	c.(991-993)GGC>GAC			Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF24,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 649				ENSP00000347043		5-May									COSM3404516	5-May	.		ENST00000354957	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000198093	g.chr19:52394397C>T	25741			MODERATE		0.815	low	getma.org/?cm=msa&ty=f&p=ZN649_HUMAN&rb=300&re=361&var=G331D	getma.org/pdb.php?prot=ZN649_HUMAN&from=330&to=331&var=G331D	getma.org/?cm=var&var=hg19,19,52394397,C,T&fts=all	G331D	--	--	1																																		ZNF577_uc010ydf.1_5'Flank	1	1		probably_damaging(0.981)	p.G331D	NM_023074	NP_075562		deleterious(0.03)	1	ZN649_HUMAN	ZNF649	HGNC	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	M0R098_HUMAN		5	1260	-		all_neural(266;0.0602)	UPI000006D442	331			C2H2-type 6.		SNV	ZNF649,missense_variant,p.Gly331Asp,ENST00000354957,NM_023074.3;ZNF649,missense_variant,p.Gly303Asp,ENST00000600738,;ZNF577,upstream_gene_variant,,ENST00000420592,;ZNF577,upstream_gene_variant,,ENST00000301399,NM_032679.2;ZNF577,upstream_gene_variant,,ENST00000458390,;ZNF577,upstream_gene_variant,,ENST00000412216,;ZNF577,upstream_gene_variant,,ENST00000451628,NM_001135590.1;ZNF577,upstream_gene_variant,,ENST00000446514,;ZNF577,upstream_gene_variant,,ENST00000453272,;ZNF577,upstream_gene_variant,,ENST00000419138,;ZNF577,upstream_gene_variant,,ENST00000591320,;ZNF577,upstream_gene_variant,,ENST00000592321,;CTC-429C10.2,intron_variant,,ENST00000600329,;ZNF577,upstream_gene_variant,,ENST00000485702,;ZNF577,upstream_gene_variant,,ENST00000589784,;ZNF577,upstream_gene_variant,,ENST00000484095,;ZNF577,upstream_gene_variant,,ENST00000588878,;ZNF649,downstream_gene_variant,,ENST00000599671,;	uc002pxy.2	c.992G>A	1277/3197	2	2			c.992G>A						19	SNP	c.(991-993)GGC>GAC	42	42			ovary(1)|central_nervous_system(1)|skin(1)	3	Broad	zinc finger protein 649			52394397		0.453	ENSG00000198093	17803	g.chr19:52394397C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-28.906038	KEEP	3	0	-1	75	79	3	0	-1	6.360226	75	79	0.021739	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF577_uc010ydf.1_5'Flank	160	GBM-19-1790-TP	p.G331D	C	GTTGAGATTGCCCTTCTGAAT	NM_023074	NP_075562	52394397	Q9BS31	ZN649_HUMAN	0		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	1260	-	T	T		all_neural(266;0.0602)	Missense_Mutation	331			C2H2-type 6.			
ZNF653	115950	broad.mit.edu	GRCh37	19	11598332	11598332	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000293771.5:c.946G>A	p.Gly316Ser	p.G316S	ENST00000293771	NM_138783.3	316	Ggc/Agc	0			1			T	G/S	uc002mrz.1	protein_coding	YES	CCDS12261.1			946/1848										0	c.(946-948)GGC>AGC			hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF353	zinc finger protein 653				ENSP00000293771		9-Apr	8.24E-06							6.06E-05	rs768514644,COSM2149345	9-Apr	.		ENST00000293771	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000161914	g.chr19:11598332C>T	25196			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=ZN653_HUMAN&rb=1&re=483&var=G316S	NA	getma.org/?cm=var&var=hg19,19,11598332,C,T&fts=all	G316S	--	--	1																																			0,1	1		benign(0.215)	p.G316S	NM_138783	NP_620138		tolerated(0.14)	0,1	ZN653_HUMAN	ZNF653	HGNC	Q96CK0	ZN653_HUMAN					4	999	-			UPI000006FAFC	316					SNV	ZNF653,missense_variant,p.Gly316Ser,ENST00000293771,NM_138783.3;ZNF653,upstream_gene_variant,,ENST00000590296,;ZNF653,upstream_gene_variant,,ENST00000589051,;ZNF653,upstream_gene_variant,,ENST00000592756,;ZNF653,non_coding_transcript_exon_variant,,ENST00000590548,;CTC-398G3.6,intron_variant,,ENST00000585656,;	uc002mrz.1	c.946G>A	1083/2240	2	2			c.946G>A						19	SNP	c.(946-948)GGC>AGC	47	47				0	Broad	zinc finger protein 653			11598332		0.672	ENSG00000161914	17805	g.chr19:11598332C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	Pancreas(83;980 1446 4542 6441 43352)			Pancreas(83;980 1446 4542 6441 43352)			121.939606	KEEP	19	26	-1	47	47	19	26	-1	125.606044	47	47	0.320312	1	0	0	0	0	1	0	0	0	--	--		0	T				12	GBM-06-0125-TP	p.G316S	C	ACCTGTGAGCCGGGCACCATG	NM_138783	NP_620138	11598332	Q96CK0	ZN653_HUMAN	0			4	999	-	T	T			Missense_Mutation	316						
ZNF653	0	broad.mit.edu	GRCh37	19	11594572	11594572	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-14-1043-01	TCGA-14-1043-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000293771.5:c.1773C>T	p.Cys591=	p.C591=	ENST00000293771	NM_138783.3	591	tgC/tgT	0			1			A	C	uc002mrz.1	protein_coding	YES	CCDS12261.1			1773/1848										0	c.(1771-1773)TGC>TGT			Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF353,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 653				ENSP00000293771		9-Sep	8.24E-06					1.57E-05			rs746767532,COSM3403765	9-Sep	.		ENST00000293771	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000161914	g.chr19:11594572G>A	25196			LOW								--	--	1																																		ELAVL3_uc002mrx.1_5'Flank|ELAVL3_uc002mry.1_5'Flank	0,1	1			p.C591C	NM_138783	NP_620138			0,1	ZN653_HUMAN	ZNF653	HGNC	Q96CK0	ZN653_HUMAN					9	1826	-			UPI000006FAFC	591			C2H2-type 5.		SNV	ZNF653,missense_variant,p.Arg116Trp,ENST00000590296,;ZNF653,synonymous_variant,p.=,ENST00000293771,NM_138783.3;ZNF653,3_prime_UTR_variant,,ENST00000589051,;ELAVL3,upstream_gene_variant,,ENST00000359227,NM_001420.3,NM_032281.2;ELAVL3,upstream_gene_variant,,ENST00000438662,;ZNF653,downstream_gene_variant,,ENST00000592756,;ELAVL3,upstream_gene_variant,,ENST00000588853,;ELAVL3,upstream_gene_variant,,ENST00000592218,;ZNF653,non_coding_transcript_exon_variant,,ENST00000590548,;CTC-398G3.6,intron_variant,,ENST00000585656,;	uc002mrz.1	c.1773C>T	1910/2240	1	1			c.1773C>T						19	SNP	c.(1771-1773)TGC>TGT	64	64				0	Broad	zinc finger protein 653			11594572		0.612	ENSG00000161914	17805	g.chr19:11594572G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	Pancreas(83;980 1446 4542 6441 43352)			Pancreas(83;980 1446 4542 6441 43352)			36.136222	KEEP	8	8	-1	20	11	8	8	-1	37.169338	20	11	0.333333	1	0	0	0	0	0	0	1	0	--	--		0	A			ELAVL3_uc002mrx.1_5'Flank|ELAVL3_uc002mry.1_5'Flank	143	GBM-14-1043-TP	p.C591C	G	AGCGCTTCCCGCAGCGATCGC	NM_138783	NP_620138	11594572	Q96CK0	ZN653_HUMAN	0			9	1826	-	A	A			Silent	591			C2H2-type 5.			
ZNF655	0	broad.mit.edu	GRCh37	7	99170930	99170930	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-27-1838-01	TCGA-27-1838-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252713.4:c.1199G>T	p.Arg400Ile	p.R400I	ENST00000252713		400	aGa/aTa	0			1			T	R/I	uc003urh.2	protein_coding		CCDS5669.1			1199/1476									ovary(1)	1	c.(1198-1200)AGA>ATA			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF284,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 655 isoform a				ENSP00000252713		3-Mar									COSM3412557,COSM3412556	3-Mar	.		ENST00000252713	Transcript			G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	ENSG00000197343	g.chr7:99170930G>T	30899			MODERATE		1.49	low	getma.org/?cm=msa&ty=f&p=ZN655_HUMAN&rb=374&re=439&var=R400I	getma.org/pdb.php?prot=ZN655_HUMAN&from=394&to=419&var=R400I	getma.org/?cm=var&var=hg19,7,99170930,G,T&fts=all	R400I	--	--	1																																		ZNF655_uc010lga.2_Missense_Mutation_p.R435I|ZNF655_uc010lgc.2_Missense_Mutation_p.R435I|ZNF655_uc003urj.2_Missense_Mutation_p.R400I|ZNF655_uc003urk.2_Missense_Mutation_p.R237I|ZNF655_uc010lgd.2_Missense_Mutation_p.R237I	1,1			probably_damaging(0.951)	p.R400I	NM_138494	NP_612503		deleterious(0)	1,1	ZN655_HUMAN	ZNF655	HGNC	Q8N720	ZN655_HUMAN			Q68DU4_HUMAN		3	1592	+	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		UPI0000070B32	400			C2H2-type 5.		SNV	ZNF655,missense_variant,p.Arg435Ile,ENST00000424881,NM_001085368.1,NM_001083956.1;ZNF655,missense_variant,p.Arg400Ile,ENST00000394163,NM_001009960.1,NM_138494.2;ZNF655,missense_variant,p.Arg400Ile,ENST00000252713,;ZNF655,missense_variant,p.Arg435Ile,ENST00000493277,;ZNF655,3_prime_UTR_variant,,ENST00000425063,;ZNF655,downstream_gene_variant,,ENST00000422164,;ZNF655,downstream_gene_variant,,ENST00000422647,;ZNF655,downstream_gene_variant,,ENST00000454654,;ZNF655,downstream_gene_variant,,ENST00000427931,;ZNF655,downstream_gene_variant,,ENST00000449244,;ZNF655,non_coding_transcript_exon_variant,,ENST00000419215,;GS1-259H13.10,intron_variant,,ENST00000486324,;ZNF655,non_coding_transcript_exon_variant,,ENST00000494357,;GS1-259H13.10,intron_variant,,ENST00000455905,;ZNF655,downstream_gene_variant,,ENST00000412636,;ZNF655,downstream_gene_variant,,ENST00000493947,;	uc003urh.2	c.1199G>T	1436/2535	1	1			c.1199G>T						7	SNP	c.(1198-1200)AGA>ATA	16	16			ovary(1)	1	Broad	zinc finger protein 655 isoform a			99170930		0.353	ENSG00000197343	17807	g.chr7:99170930G>T	G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding							30.717941	KEEP	20	12	0.625	120	122	20	12	0.625	68.244822	120	122	0.118321	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF655_uc010lga.2_Missense_Mutation_p.R435I|ZNF655_uc010lgc.2_Missense_Mutation_p.R435I|ZNF655_uc003urj.2_Missense_Mutation_p.R400I|ZNF655_uc003urk.2_Missense_Mutation_p.R237I|ZNF655_uc010lgd.2_Missense_Mutation_p.R237I	197	GBM-27-1838-TP	p.R400I	G	CAGCATCAAAGAATTCACACA	NM_138494	NP_612503	99170930	Q8N720	ZN655_HUMAN	0			3	1592	+	T	T	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		Missense_Mutation	400			C2H2-type 5.			
ZNF658	0	broad.mit.edu	GRCh37	9	40772759	40772759	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01	TCGA-28-2509-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000602553.1:c.2516C>T	p.Thr839Ile	p.T839I	ENST00000602553		839	aCa/aTa	0			1			A	T/I	uc004abs.2	protein_coding	YES	CCDS35023.1			2516/3180									ovary(1)	1	c.(2515-2517)ACA>ATA			PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF256,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 658				ENSP00000473484		5-May									COSM3413665	5-May	.		ENST00000602553	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000196409	g.chr9:40772759G>A	25226			MODERATE		1.21	low	getma.org/?cm=msa&ty=f&p=Z658B_HUMAN&rb=568&re=629&var=T599I	getma.org/pdb.php?prot=Z658B_HUMAN&from=598&to=599&var=T599I	getma.org/?cm=var&var=hg19,9,40772759,G,A&fts=all	T599I	--	--	1																																		ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.T839I	1	1		probably_damaging(0.994)	p.T839I	NM_033160	NP_149350		tolerated(0.06)	1	ZN658_HUMAN	ZNF658	HGNC	Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	B3KNB1_HUMAN		5	2668	-			UPI000046D388	839			C2H2-type 17.		SNV	ZNF658,missense_variant,p.Thr839Ile,ENST00000602553,;ZNF658,missense_variant,p.Thr839Ile,ENST00000377626,NM_033160.5;ZNF658,intron_variant,,ENST00000441795,;ZNF658,intron_variant,,ENST00000479710,;	uc004abs.2	c.2516C>T	2811/4155	2	2			c.2516C>T						9	SNP	c.(2515-2517)ACA>ATA	17	17			ovary(1)	1	Broad	zinc finger protein 658			40772759		0.428	ENSG00000196409	17808	g.chr9:40772759G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							389.756176	KEEP	63	100	-1	114	152	63	100	-1	391.104124	114	152	0.429936	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.T839I	211	GBM-28-2509-TP	p.T839I	G	ACAGAGGTGTGTTCTTTGGGA	NM_033160	NP_149350	40772759	Q5TYW1	ZN658_HUMAN	0		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	2668	-	A	A			Missense_Mutation	839			C2H2-type 17.			
ZNF658	0	broad.mit.edu	GRCh37	9	40772547	40772547	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-32-4208-01	TCGA-32-4208-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000602553.1:c.2728T>G	p.Tyr910Asp	p.Y910D	ENST00000602553		910	Tat/Gat	0			1			C	Y/D	uc004abs.2	protein_coding	YES	CCDS35023.1			2728/3180									ovary(1)	1	c.(2728-2730)TAT>GAT			PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF256,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 658				ENSP00000473484		5-May									COSM3413664	5-May	.		ENST00000602553	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000196409	g.chr9:40772547A>C	25226			MODERATE		4.07	high	getma.org/?cm=msa&ty=f&p=Z658B_HUMAN&rb=636&re=701&var=Y670D	getma.org/pdb.php?prot=Z658B_HUMAN&from=656&to=681&var=Y670D	getma.org/?cm=var&var=hg19,9,40772547,A,C&fts=all	Y670D	--	--	1																																		ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.Y910D	1	1		probably_damaging(0.997)	p.Y910D	NM_033160	NP_149350		deleterious(0)	1	ZN658_HUMAN	ZNF658	HGNC	Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	B3KNB1_HUMAN		5	2880	-			UPI000046D388	910			C2H2-type 20.		SNV	ZNF658,missense_variant,p.Tyr910Asp,ENST00000602553,;ZNF658,missense_variant,p.Tyr910Asp,ENST00000377626,NM_033160.5;ZNF658,intron_variant,,ENST00000441795,;ZNF658,intron_variant,,ENST00000479710,;	uc004abs.2	c.2728T>G	3023/4155	3	3			c.2728T>G						9	SNP	c.(2728-2730)TAT>GAT	9	9			ovary(1)	1	Broad	zinc finger protein 658			40772547		0.448	ENSG00000196409	17808	g.chr9:40772547A>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-91.04798	KEEP	3	6	-1	198	242	3	6	-1	13.768625	198	242	0.019753	1	0	0	0	0	1	0	0	0	--	--		0	C			ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.Y910D	243	GBM-32-4208-TP	p.Y910D	A	CTGCATTCATAGGGTTTCTCC	NM_033160	NP_149350	40772547	Q5TYW1	ZN658_HUMAN	0		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	2880	-	C	C			Missense_Mutation	910			C2H2-type 20.			
ZNF665	79788	broad.mit.edu	GRCh37	19	53669083	53669083	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-06-0221-01	TCGA-06-0221-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396424.3:c.660C>G	p.Asn220Lys	p.N220K	ENST00000396424	NM_024733.3	220	aaC/aaG	0			1			C	N/K	uc010eqm.1	protein_coding					465/1842									ovary(2)	2	c.(658-660)AAC>AAG			PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF132,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	zinc finger protein 665				ENSP00000469154		2-Feb									COSM3404538,COSM3404537	2-Feb	.		ENST00000600412	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000197497	g.chr19:53669083G>C	25885			MODERATE		1.235	low	getma.org/?cm=msa&ty=f&p=ZN665_HUMAN&rb=135&re=200&var=N155K	getma.org/pdb.php?prot=ZN665_HUMAN&from=155&to=180&var=N155K	getma.org/?cm=var&var=hg19,19,53669083,G,C&fts=all	N155K	--	--	1																																			1,1			possibly_damaging(0.605)	p.N220K	NM_024733	NP_079009		tolerated(0.29)	1,1	ZN665_HUMAN	ZNF665	HGNC	Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)			4	760	-			UPI000013F406	155			C2H2-type 2.		SNV	ZNF665,missense_variant,p.Asn155Lys,ENST00000600412,;ZNF665,missense_variant,p.Asn220Lys,ENST00000396424,NM_024733.3;CTD-2245F17.2,downstream_gene_variant,,ENST00000600257,;ZNF665,upstream_gene_variant,,ENST00000596564,;	uc010eqm.1	c.660C>G	581/2273	3	3			c.660C>G						19	SNP	c.(658-660)AAC>AAG	6	6			ovary(2)	2	Broad	zinc finger protein 665			53669083		0.403	ENSG00000197497	17812	g.chr19:53669083G>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-22.89976	KEEP	6	3	-1	96	116	6	3	-1	21.64075	96	116	0.044776	1	0	0	0	0	1	0	0	0	--	--		0	C				53	GBM-06-0221-TP	p.N220K	G	GGATTGTTAGGTTTGAACGAA	NM_024733	NP_079009	53669083	Q9H7R5	ZN665_HUMAN	0		GBM - Glioblastoma multiforme(134;0.0196)	4	760	-	C	C			Missense_Mutation	155			C2H2-type 2.			
ZNF667	63934	broad.mit.edu	GRCh37	19	56953854	56953859	+	inframe_deletion	In_Frame_Del	DEL	CTTCTC	CTTCTC	-			TCGA-02-2470-01	TCGA-02-2470-01	CTTCTC	CTTCTC							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504904.3:c.505_510del	p.Glu169_Lys170del	p.E169_K170del	ENST00000504904		169	GAGAAG/-	0			1			-	EK/-	uc002qnd.2	protein_coding		CCDS12944.1			505-510/1833									pancreas(1)	1	c.(505-510)GAGAAGdel			Superfamily_domains:SSF57667,Gene3D:3.30.160.60,Pfam_domain:PF13465,hmmpanther:PTHR24390,hmmpanther:PTHR24390:SF46,PROSITE_profiles:PS50157	zinc finger protein 667				ENSP00000292069		5-May										5-May	.		ENST00000292069	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000198046	g.chr19:56953854_56953859delCTTCTC	28854			MODERATE								--	--	1																																		ZNF667_uc010etl.2_5'UTR|ZNF667_uc002qne.2_In_Frame_Del_p.EK169del|ZNF667_uc010etm.2_In_Frame_Del_p.EK112del					p.EK169del	NM_022103	NP_071386				ZN667_HUMAN	ZNF667	HGNC	Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	K7ERY5_HUMAN,K7EIE0_HUMAN		5	667_672	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	UPI0000202CEE	169_170					deletion	ZNF667,inframe_deletion,p.Glu169_Lys170del,ENST00000504904,;ZNF667,inframe_deletion,p.Glu297_Lys298del,ENST00000342634,;ZNF667,inframe_deletion,p.Glu169_Lys170del,ENST00000292069,NM_022103.3;ZNF667,3_prime_UTR_variant,,ENST00000591790,;ZNF667,downstream_gene_variant,,ENST00000587555,;ZNF667,3_prime_UTR_variant,,ENST00000592189,;	uc002qnd.2	c.505_510delGAGAAG	667-672/3832	5	5			c.505_510delGAGAAG						19	DEL	c.(505-510)GAGAAGdel	1	1			pancreas(1)	1	Broad	zinc finger protein 667			56953859		0.374	ENSG00000198046	17813	g.chr19:56953854_56953859delCTTCTC	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding																				0.03	1	1	0	1	0	0	0	0	0	--	--		0	-			ZNF667_uc010etl.2_5'UTR|ZNF667_uc002qne.2_In_Frame_Del_p.EK169del|ZNF667_uc010etm.2_In_Frame_Del_p.EK112del	5	GBM-02-2470-TP	p.EK169del	CTTCTC	ATTCAAAAGGCTTCTCTCCTGTATGA	NM_022103	NP_071386	56953854	Q5HYK9	ZN667_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0615)	5	667_672	-	-	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	In_Frame_Del	169_170						
ZNF667	63934	broad.mit.edu	GRCh37	19	56953533	56953533	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0644-01	TCGA-06-0644-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000504904.3:c.831A>G	p.Gly277=	p.G277=	ENST00000504904		277	ggA/ggG	0			1			C	G	uc002qnd.2	protein_coding		CCDS12944.1			831/1833									pancreas(1)	1	c.(829-831)GGA>GGG			Superfamily_domains:SSF57667,Gene3D:3.30.160.60,hmmpanther:PTHR24390,hmmpanther:PTHR24390:SF46,PROSITE_profiles:PS50157	zinc finger protein 667				ENSP00000292069		5-May									COSM3404680,COSM3404681	5-May	.		ENST00000292069	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000198046	g.chr19:56953533T>C	28854			LOW								--	--	1																																		ZNF667_uc010etl.2_Silent_p.G59G|ZNF667_uc002qne.2_Silent_p.G277G|ZNF667_uc010etm.2_Silent_p.G220G	1,1				p.G277G	NM_022103	NP_071386			1,1	ZN667_HUMAN	ZNF667	HGNC	Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	K7ERY5_HUMAN,K7EIE0_HUMAN		5	993	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	UPI0000202CEE	277					SNV	ZNF667,synonymous_variant,p.=,ENST00000504904,;ZNF667,synonymous_variant,p.=,ENST00000342634,;ZNF667,synonymous_variant,p.=,ENST00000292069,NM_022103.3;ZNF667,3_prime_UTR_variant,,ENST00000591790,;ZNF667,downstream_gene_variant,,ENST00000587555,;ZNF667,3_prime_UTR_variant,,ENST00000592189,;	uc002qnd.2	c.831A>G	993/3832	3	3			c.831A>G						19	SNP	c.(829-831)GGA>GGG	52	52			pancreas(1)	1	Broad	zinc finger protein 667			56953533		0.348	ENSG00000198046	17813	g.chr19:56953533T>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-32.145402	KEEP	1	3	-1	73	100	1	3	-1	9.045485	73	100	0.02439	1	0	0	0	0	0	0	1	0	--	--		0	C			ZNF667_uc010etl.2_Silent_p.G59G|ZNF667_uc002qne.2_Silent_p.G277G|ZNF667_uc010etm.2_Silent_p.G220G	58	GBM-06-0644-TP	p.G277G	T	GTGTTTTCTTTCCATTGTGAA	NM_022103	NP_071386	56953533	Q5HYK9	ZN667_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0615)	5	993	-	C	C		Colorectal(82;0.000256)|Ovarian(87;0.243)	Silent	277						
ZNF668	0	broad.mit.edu	GRCh37	16	31072650	31072650	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-41-4097-01	TCGA-41-4097-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000394983.2:c.1599G>A	p.Arg533=	p.R533=	ENST00000394983		533	cgG/cgA	0			1			T	R	uc010caf.2	protein_coding		CCDS10701.1			1599/1860									breast(4)	4	c.(1597-1599)CGG>CGA			Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24409:SF15,hmmpanther:PTHR24409,PROSITE_profiles:PS50157	zinc finger protein 668				ENSP00000378434		3-Mar									COSM3402290,COSM3402289	3-Mar	.		ENST00000394983	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000167394	g.chr16:31072650C>T	25821			LOW								--	--	1																																		ZNF668_uc002eao.2_Silent_p.R533R	1,1				p.R533R	NM_024706	NP_078982			1,1	ZN668_HUMAN	ZNF668	HGNC	Q96K58	ZN668_HUMAN			C9JG35_HUMAN,C9JCJ0_HUMAN		3	1956	-			UPI000013E6A5	533			C2H2-type 14.		SNV	ZNF668,synonymous_variant,p.=,ENST00000538906,NM_001172668.1;ZNF668,synonymous_variant,p.=,ENST00000300849,NM_024706.4;ZNF668,synonymous_variant,p.=,ENST00000394983,;ZNF668,synonymous_variant,p.=,ENST00000539836,NM_001172669.1;ZNF668,synonymous_variant,p.=,ENST00000535577,NM_001172670.1;ZNF668,synonymous_variant,p.=,ENST00000426488,;ZNF668,downstream_gene_variant,,ENST00000442862,;ZNF668,upstream_gene_variant,,ENST00000417110,;ZNF668,downstream_gene_variant,,ENST00000414399,;ZNF668,downstream_gene_variant,,ENST00000417935,;AC135050.5,upstream_gene_variant,,ENST00000568708,;ZNF668,downstream_gene_variant,,ENST00000564456,;	uc010caf.2	c.1599G>A	2238/2717	2	2			c.1599G>A						16	SNP	c.(1597-1599)CGG>CGA	26	26			breast(4)	4	Broad	zinc finger protein 668			31072650		0.672	ENSG00000167394	17814	g.chr16:31072650C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	Colon(181;1111 1980 5060 10512 25785)		49	Colon(181;1111 1980 5060 10512 25785)		49	-15.358539	KEEP	1	2	-1	51	43	1	2	-1	6.313233	51	43	0.032967	1	0	0	0	0	0	0	1	0	--	--		0	T			ZNF668_uc002eao.2_Silent_p.R533R	257	GBM-41-4097-TP	p.R533R	C	AGCGCTCGTGCCGACGCAGCA	NM_024706	NP_078982	31072650	Q96K58	ZN668_HUMAN	0			3	1956	-	T	T			Silent	533			C2H2-type 14.			
ZNF674	641339	broad.mit.edu	GRCh37	X	46388335	46388335	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-5417-01	TCGA-06-5417-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000523374.1:c.25A>G	p.Thr9Ala	p.T9A	ENST00000523374	NM_001039891.2	9	Acc/Gcc	0			1			C	T/A	uc004dgr.2	protein_coding	YES	CCDS48099.1			25/1746									breast(2)	2	c.(25-27)ACC>GCC			PROSITE_profiles:PS50805,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF125,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	zinc finger family member 674 isoform 1				ENSP00000429148		6-Apr										6-Apr	.		ENST00000523374	Transcript	1		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000251192	g.chrX:46388335T>C	17625			MODERATE		2.205	medium	getma.org/?cm=msa&ty=f&p=ZN674_HUMAN&rb=8&re=48&var=T9A	getma.org/pdb.php?prot=ZN674_HUMAN&from=8&to=48&var=T9A	getma.org/?cm=var&var=hg19,X,46388335,T,C&fts=all	T9A	--	--	1																																		ZNF674_uc011mlg.1_Missense_Mutation_p.T9A|ZNF674_uc010nhm.2_Missense_Mutation_p.T9A		1		benign(0.01)	p.T9A	NM_001039891	NP_001034980		deleterious(0.02)		ZN674_HUMAN	ZNF674	HGNC	Q2M3X9	ZN674_HUMAN					4	252	-			UPI0000684253	9			KRAB.		SNV	ZNF674,missense_variant,p.Thr9Ala,ENST00000523374,NM_001039891.2,NM_001146291.1,NM_001190417.1;ZNF674,missense_variant,p.Thr9Ala,ENST00000414387,;ZNF674,missense_variant,p.Thr9Ala,ENST00000518708,;ZNF674,non_coding_transcript_exon_variant,,ENST00000522017,;ZNF674,non_coding_transcript_exon_variant,,ENST00000521626,;ZNF674,non_coding_transcript_exon_variant,,ENST00000453909,;	uc004dgr.2	c.25A>G	236/4073	3	3			c.25A>G						23	SNP	c.(25-27)ACC>GCC	14	14			breast(2)	2	Broad	zinc finger family member 674 isoform 1			46388335		0.498	ENSG00000251192	17820	g.chrX:46388335T>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							107.257088	KEEP	14	22	-1	35	35	14	22	-1	108.70398	35	35	0.363636	1	0	0	0	0	1	0	0	0	--	--		0	C			ZNF674_uc011mlg.1_Missense_Mutation_p.T9A|ZNF674_uc010nhm.2_Missense_Mutation_p.T9A	99	GBM-06-5417-TP	p.T9A	T	TCCTTGAAGGTCAATGATTCC	NM_001039891	NP_001034980	46388335	Q2M3X9	ZN674_HUMAN	0			4	252	-	C	C			Missense_Mutation	9			KRAB.			
ZNF674	0	broad.mit.edu	GRCh37	X	46387797	46387797	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-2554-01	TCGA-14-2554-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000523374.1:c.226C>T	p.Arg76Trp	p.R76W	ENST00000523374	NM_001039891.2	76	Cgg/Tgg	0			1			A	R/W	uc004dgr.2	protein_coding	YES	CCDS48099.1			226/1746									breast(2)	2	c.(226-228)CGG>TGG			PROSITE_profiles:PS50805,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF125	zinc finger family member 674 isoform 1				ENSP00000429148		6-May	2.47E-05			0.000301		2.08E-05			rs202006634	6-May	.		ENST00000523374	Transcript	1		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000251192	g.chrX:46387797G>A	17625			MODERATE		1.545	low	getma.org/?cm=msa&ty=f&p=ZN674_HUMAN&rb=8&re=79&var=R76W	NA	getma.org/?cm=var&var=hg19,X,46387797,G,A&fts=all	R76W	--	--	1																																		ZNF674_uc011mlg.1_Missense_Mutation_p.R76W|ZNF674_uc010nhm.2_Missense_Mutation_p.R76W		1		benign(0)	p.R76W	NM_001039891	NP_001034980		tolerated(0.31)		ZN674_HUMAN	ZNF674	HGNC	Q2M3X9	ZN674_HUMAN					5	453	-			UPI0000684253	76			KRAB.		SNV	ZNF674,missense_variant,p.Arg76Trp,ENST00000523374,NM_001039891.2,NM_001146291.1,NM_001190417.1;ZNF674,missense_variant,p.Arg76Trp,ENST00000414387,;ZNF674,missense_variant,p.Arg76Trp,ENST00000518708,;ZNF674,non_coding_transcript_exon_variant,,ENST00000522017,;ZNF674,non_coding_transcript_exon_variant,,ENST00000521626,;ZNF674,upstream_gene_variant,,ENST00000518795,;ZNF674,non_coding_transcript_exon_variant,,ENST00000453909,;	uc004dgr.2	c.226C>T	437/4073	1	1			c.226C>T						23	SNP	c.(226-228)CGG>TGG	61	61			breast(2)	2	Broad	zinc finger family member 674 isoform 1			46387797		0.587	ENSG00000251192	17820	g.chrX:46387797G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-22.28103	KEEP	7	3	-1	91	85	7	3	-1	13.929112	91	85	0.04321	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF674_uc011mlg.1_Missense_Mutation_p.R76W|ZNF674_uc010nhm.2_Missense_Mutation_p.R76W	150	GBM-14-2554-TP	p.R76W	G	GCACAGGTCCGTACCGGGGTC	NM_001039891	NP_001034980	46387797	Q2M3X9	ZN674_HUMAN	0			5	453	-	A	A			Missense_Mutation	76			KRAB.			
ZNF674	0	broad.mit.edu	GRCh37	X	46359485	46359485	+	synonymous_variant	Silent	SNP	G	G	T			TCGA-27-1835-01	TCGA-27-1835-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000523374.1:c.1539C>A	p.Ile513=	p.I513=	ENST00000523374	NM_001039891.2	513	atC/atA	0			1			T	I	uc004dgr.2	protein_coding	YES	CCDS48099.1			1539/1746									breast(2)	2	c.(1537-1539)ATC>ATA			PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF125,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger family member 674 isoform 1				ENSP00000429148		6-Jun										6-Jun	.		ENST00000523374	Transcript	1		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000251192	g.chrX:46359485G>T	17625			LOW								--	--	1																																		ZNF674_uc011mlg.1_Silent_p.I507I		1			p.I513I	NM_001039891	NP_001034980				ZN674_HUMAN	ZNF674	HGNC	Q2M3X9	ZN674_HUMAN					6	1766	-			UPI0000684253	513			C2H2-type 9.		SNV	ZNF674,synonymous_variant,p.=,ENST00000523374,NM_001039891.2,NM_001146291.1,NM_001190417.1;ZNF674,synonymous_variant,p.=,ENST00000414387,;KRBOX4,downstream_gene_variant,,ENST00000478600,;ZNF674,downstream_gene_variant,,ENST00000518795,;	uc004dgr.2	c.1539C>A	1750/4073	2	2			c.1539C>A						23	SNP	c.(1537-1539)ATC>ATA	33	33			breast(2)	2	Broad	zinc finger family member 674 isoform 1			46359485		0.398	ENSG00000251192	17820	g.chrX:46359485G>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							71.555674	KEEP	17	9	0.653846154	25	18	17	9	0.653846154	72.503682	25	18	0.373134	1	0	0	0	0	0	0	1	0	--	--		0	T			ZNF674_uc011mlg.1_Silent_p.I507I	194	GBM-27-1835-TP	p.I513I	G	TCTGATGTTTGATGAGAGTTG	NM_001039891	NP_001034980	46359485	Q2M3X9	ZN674_HUMAN	0			6	1766	-	T	T			Silent	513			C2H2-type 9.			
ZNF676	163223	broad.mit.edu	GRCh37	19	22363176	22363176	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-2567-01	TCGA-06-2567-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397121.2:c.1343C>A	p.Pro448His	p.P448H	ENST00000397121	NM_001001411.2	448	cCc/cAc	0			1			T	P/H	uc002nqs.1	protein_coding	YES	CCDS42539.1			1343/1767										0	c.(1342-1344)CCC>CAC			Superfamily_domains:SSF57667,Pfam_domain:PF13465,Gene3D:3.30.160.60,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF112,PROSITE_profiles:PS50157	zinc finger protein 676				ENSP00000380310		3-Mar									COSM2153069	3-Mar	.		ENST00000397121	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000196109	g.chr19:22363176G>T	20429			MODERATE		3.15	medium	getma.org/?cm=msa&ty=f&p=ZN676_HUMAN&rb=415&re=480&var=P448H	getma.org/pdb.php?prot=ZN676_HUMAN&from=435&to=460&var=P448H	getma.org/?cm=var&var=hg19,19,22363176,G,T&fts=all	P448H	--	--	1																																			1	1		possibly_damaging(0.757)	p.P448H	NM_001001411	NP_001001411		deleterious(0)	1	ZN676_HUMAN	ZNF676	HGNC	Q8N7Q3	ZN676_HUMAN					3	1661	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	UPI00002376EC	448					SNV	ZNF676,missense_variant,p.Pro448His,ENST00000397121,NM_001001411.2;	uc002nqs.1	c.1343C>A	1661/2944	2	2			c.1343C>A						19	SNP	c.(1342-1344)CCC>CAC	33	33				0	Broad	zinc finger protein 676			22363176		0.433	ENSG00000196109	17822	g.chr19:22363176G>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							272.274308	KEEP	57	42	0.575757576	100	81	57	42	0.575757576	274.773542	100	81	0.389831	1	0	0	0	0	1	0	0	0	--	--		0	T				89	GBM-06-2567-TP	p.P448H	G	ACATTTGTAGGGTTTCTCTCC	NM_001001411	NP_001001411	22363176	Q8N7Q3	ZN676_HUMAN	0			3	1661	-	T	T		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	Missense_Mutation	448						
ZNF676	0	broad.mit.edu	GRCh37	19	22364158	22364158	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-1034-01	TCGA-14-1034-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397121.2:c.361G>A	p.Val121Ile	p.V121I	ENST00000397121	NM_001001411.2	121	Gtc/Atc	0	T:0		1			T	V/I	uc002nqs.1	protein_coding	YES	CCDS42539.1			361/1767										0	c.(361-363)GTC>ATC			Superfamily_domains:SSF57667,Gene3D:3.30.160.60,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF112	zinc finger protein 676			T:0.0001	ENSP00000380310		3-Mar	4.96E-05	0.000204				4.50E-05	0.00111		rs376158454,COSM2155262	3-Mar	.		ENST00000397121	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000196109	g.chr19:22364158C>T	20429			MODERATE		1.91	medium	getma.org/?cm=msa&ty=f&p=ZN676_HUMAN&rb=42&re=182&var=V121I	getma.org/pdb.php?prot=ZN676_HUMAN&from=42&to=182&var=V121I	getma.org/?cm=var&var=hg19,19,22364158,C,T&fts=all	V121I	--	--	1																																			0,1	1		benign(0.001)	p.V121I	NM_001001411	NP_001001411		tolerated(0.07)	0,1	ZN676_HUMAN	ZNF676	HGNC	Q8N7Q3	ZN676_HUMAN					3	679	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	UPI00002376EC	121					SNV	ZNF676,missense_variant,p.Val121Ile,ENST00000397121,NM_001001411.2;	uc002nqs.1	c.361G>A	679/2944	2	2			c.361G>A						19	SNP	c.(361-363)GTC>ATC	48	48				0	Broad	zinc finger protein 676			22364158		0.333	ENSG00000196109	17822	g.chr19:22364158C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							160.376628	KEEP	32	40	-1	116	117	32	40	-1	179.786116	116	117	0.230241	1	0	0	0	0	1	0	0	0	--	--		0	T				142	GBM-14-1034-TP	p.V121I	C	TTATGAAAGACGTTTGCATAT	NM_001001411	NP_001001411	22364158	Q8N7Q3	ZN676_HUMAN	0			3	679	-	T	T		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	Missense_Mutation	121						
ZNF676	0	broad.mit.edu	GRCh37	19	22364159	22364159	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-19-5951-01	TCGA-19-5951-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397121.2:c.360C>G	p.Asn120Lys	p.N120K	ENST00000397121	NM_001001411.2	120	aaC/aaG	0			1			C	N/K	uc002nqs.1	protein_coding	YES	CCDS42539.1			360/1767										0	c.(358-360)AAC>AAG			Superfamily_domains:SSF57667,Gene3D:3.30.160.60,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF112	zinc finger protein 676				ENSP00000380310		3-Mar									COSM2156624	3-Mar	.		ENST00000397121	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000196109	g.chr19:22364159G>C	20429			MODERATE		-2.91	neutral	getma.org/?cm=msa&ty=f&p=ZN676_HUMAN&rb=42&re=182&var=N120K	getma.org/pdb.php?prot=ZN676_HUMAN&from=42&to=182&var=N120K	getma.org/?cm=var&var=hg19,19,22364159,G,C&fts=all	N120K	--	--	1																																			1	1		benign(0.007)	p.N120K	NM_001001411	NP_001001411		tolerated(1)	1	ZN676_HUMAN	ZNF676	HGNC	Q8N7Q3	ZN676_HUMAN					3	678	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	UPI00002376EC	120					SNV	ZNF676,missense_variant,p.Asn120Lys,ENST00000397121,NM_001001411.2;	uc002nqs.1	c.360C>G	678/2944	3	3			c.360C>G						19	SNP	c.(358-360)AAC>AAG	57	57				0	Broad	zinc finger protein 676			22364159		0.328	ENSG00000196109	17822	g.chr19:22364159G>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							191.252222	KEEP	26	36	-1	62	82	26	36	-1	197.895015	62	82	0.304124	1	0	0	0	0	1	0	0	0	--	--		0	C				171	GBM-19-5951-TP	p.N120K	G	TATGAAAGACGTTTGCATATT	NM_001001411	NP_001001411	22364159	Q8N7Q3	ZN676_HUMAN	0			3	678	-	C	C		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	Missense_Mutation	120						
ZNF676	0	broad.mit.edu	GRCh37	19	22363727	22363727	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397121.2:c.792C>T	p.Ser264=	p.S264=	ENST00000397121	NM_001001411.2	264	agC/agT	0	A:0		1			A	S	uc002nqs.1	protein_coding	YES	CCDS42539.1			792/1767										0	c.(790-792)AGC>AGT			Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF112,PROSITE_profiles:PS50157	zinc finger protein 676			A:0.0001	ENSP00000380310		3-Mar	2.25E-05		0.000116			2.08E-05			rs375422919,COSM993864	3-Mar	.		ENST00000397121	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000196109	g.chr19:22363727G>A	20429			LOW								--	--	1																																			0,1	1			p.S264S	NM_001001411	NP_001001411			0,1	ZN676_HUMAN	ZNF676	HGNC	Q8N7Q3	ZN676_HUMAN					3	1110	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	UPI00002376EC	264			C2H2-type 4.		SNV	ZNF676,synonymous_variant,p.=,ENST00000397121,NM_001001411.2;	uc002nqs.1	c.792C>T	1110/2944	2	2			c.792C>T						19	SNP	c.(790-792)AGC>AGT	42	42				0	Broad	zinc finger protein 676			22363727		0.398	ENSG00000196109	17822	g.chr19:22363727G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							9.519642	KEEP	2	4	-1	12	16	2	4	-1	12.630113	12	16	0.166667	1	0	0	0	0	0	0	1	0	--	--		0	A				230	GBM-32-1979-TP	p.S264S	G	GGGTTGAGACGCTACTAAATC	NM_001001411	NP_001001411	22363727	Q8N7Q3	ZN676_HUMAN	0			3	1110	-	A	A		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	Silent	264			C2H2-type 4.			
ZNF677	0	broad.mit.edu	GRCh37	19	53741592	53741592	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-14-1395-01	TCGA-14-1395-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333952.4:c.388C>A	p.His130Asn	p.H130N	ENST00000333952		130	Cac/Aac	0			1			T	H/N	uc002qbf.1	protein_coding	YES	CCDS12861.1			388/1755									ovary(1)	1	c.(388-390)CAC>AAC			hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF38	zinc finger protein 677				ENSP00000334394		7-May									COSM3404539	7-May	.		ENST00000333952	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000197928	g.chr19:53741592G>T	28730			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=ZN677_HUMAN&rb=49&re=248&var=H130N	NA	getma.org/?cm=var&var=hg19,19,53741592,G,T&fts=all	H130N	--	--	1																																		ZNF677_uc002qbg.1_Missense_Mutation_p.H130N	1	1		benign(0.05)	p.H130N	NM_182609	NP_872415		tolerated(0.32)	1	ZN677_HUMAN	ZNF677	HGNC	Q86XU0	ZN677_HUMAN		GBM - Glioblastoma multiforme(134;0.00352)	M0R297_HUMAN		5	573	-			UPI000017DF85	130					SNV	ZNF677,missense_variant,p.His130Asn,ENST00000333952,;ZNF677,missense_variant,p.His130Asn,ENST00000598513,NM_182609.2;ZNF677,missense_variant,p.His130Asn,ENST00000594517,;ZNF677,downstream_gene_variant,,ENST00000594681,;ZNF677,downstream_gene_variant,,ENST00000599012,;ZNF677,downstream_gene_variant,,ENST00000601828,;ZNF677,downstream_gene_variant,,ENST00000598806,;CTD-2245F17.6,upstream_gene_variant,,ENST00000596041,;ZNF677,downstream_gene_variant,,ENST00000599328,;ZNF677,downstream_gene_variant,,ENST00000593539,;	uc002qbf.1	c.388C>A	554/8731	2	2			c.388C>A						19	SNP	c.(388-390)CAC>AAC	17	17			ovary(1)	1	Broad	zinc finger protein 677			53741592		0.353	ENSG00000197928	17823	g.chr19:53741592G>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							42.923832	KEEP	8	13	0.380952381	48	43	8	13	0.380952381	52.116799	48	43	0.196262	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF677_uc002qbg.1_Missense_Mutation_p.H130N	144	GBM-14-1395-TP	p.H130N	G	TCTTTTCTGTGAGTGAGATTT	NM_182609	NP_872415	53741592	Q86XU0	ZN677_HUMAN	0		GBM - Glioblastoma multiforme(134;0.00352)	5	573	-	T	T			Missense_Mutation	130						
ZNF680	340252	broad.mit.edu	GRCh37	7	64004766	64004766	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-02-0003-01	TCGA-02-0003-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309683.6:c.75G>A	p.Glu25=	p.E25=	ENST00000309683	NM_178558.4	25	gaG/gaA	0			1			T	E	uc003tta.2	protein_coding	YES	CCDS34644.1			75/1593									ovary(1)	1	c.(73-75)GAG>GAA			Superfamily_domains:0044637,SMART_domains:SM00349,Pfam_domain:PF01352,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF117,PROSITE_profiles:PS50805	zinc finger protein 680 isoform 1				ENSP00000309330		4-Feb									COSM3412228	4-Feb	.		ENST00000309683	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000173041	g.chr7:64004766C>T	26897			LOW								--	--	1																																		ZNF680_uc010kzr.2_5'UTR|ZNF680_uc003ttb.2_Silent_p.E25E	1	1			p.E25E	NM_178558	NP_848653			1	ZN680_HUMAN	ZNF680	HGNC	Q8NEM1	ZN680_HUMAN					2	248	-		Lung NSC(55;0.118)|all_lung(88;0.243)	UPI000019980A	25			KRAB.		SNV	ZNF680,synonymous_variant,p.=,ENST00000309683,NM_178558.4;ZNF680,synonymous_variant,p.=,ENST00000447137,NM_001130022.1;ZNF680,non_coding_transcript_exon_variant,,ENST00000473601,;ZNF680,intron_variant,,ENST00000476563,;ZNF680,upstream_gene_variant,,ENST00000470847,;	uc003tta.2	c.75G>A	227/3022	2	2			c.75G>A						7	SNP	c.(73-75)GAG>GAA	42	42			ovary(1)	1	Broad	zinc finger protein 680 isoform 1			64004766		0.343	ENSG00000173041	17825	g.chr7:64004766C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-91.584358	KEEP	4	4	-1	215	220	4	4	-1	13.85276	215	220	0.019656	1	0	0	0	0	0	0	1	0	--	--		0	T			ZNF680_uc010kzr.2_5'UTR|ZNF680_uc003ttb.2_Silent_p.E25E	1	GBM-02-0003-TP	p.E25E	C	ATTGCCACTCCTCCAGAGAGA	NM_178558	NP_848653	64004766	Q8NEM1	ZN680_HUMAN	0			2	248	-	T	T		Lung NSC(55;0.118)|all_lung(88;0.243)	Silent	25			KRAB.			
ZNF680	0	broad.mit.edu	GRCh37	7	64004099	64004099	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-16-0846-01	TCGA-16-0846-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000309683.6:c.239T>C	p.Val80Ala	p.V80A	ENST00000309683	NM_178558.4	80	gTa/gCa	0			1			G	V/A	uc003tta.2	protein_coding	YES	CCDS34644.1			239/1593									ovary(1)	1	c.(238-240)GTA>GCA			hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF117,PROSITE_profiles:PS50805	zinc finger protein 680 isoform 1				ENSP00000309330		4-Mar									COSM3412227	4-Mar	.		ENST00000309683	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000173041	g.chr7:64004099A>G	26897			MODERATE		0.86	low	getma.org/?cm=msa&ty=f&p=ZN680_HUMAN&rb=13&re=84&var=V80A	NA	getma.org/?cm=var&var=hg19,7,64004099,A,G&fts=all	V80A	--	--	1																																		ZNF680_uc010kzr.2_Intron|ZNF680_uc003ttb.2_Missense_Mutation_p.V80A	1	1		benign(0.089)	p.V80A	NM_178558	NP_848653		tolerated(0.08)	1	ZN680_HUMAN	ZNF680	HGNC	Q8NEM1	ZN680_HUMAN					3	412	-		Lung NSC(55;0.118)|all_lung(88;0.243)	UPI000019980A	80			KRAB.		SNV	ZNF680,missense_variant,p.Val80Ala,ENST00000309683,NM_178558.4;ZNF680,missense_variant,p.Val80Ala,ENST00000447137,NM_001130022.1;ZNF680,non_coding_transcript_exon_variant,,ENST00000476563,;ZNF680,downstream_gene_variant,,ENST00000473601,;ZNF680,non_coding_transcript_exon_variant,,ENST00000470847,;	uc003tta.2	c.239T>C	391/3022	3	3			c.239T>C						7	SNP	c.(238-240)GTA>GCA	4	4			ovary(1)	1	Broad	zinc finger protein 680 isoform 1			64004099		0.428	ENSG00000173041	17825	g.chr7:64004099A>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							93.301439	KEEP	23	15	-1	84	53	23	15	-1	104.900095	84	53	0.214286	1	0	0	0	0	1	0	0	0	--	--		0	G			ZNF680_uc010kzr.2_Intron|ZNF680_uc003ttb.2_Missense_Mutation_p.V80A	155	GBM-16-0846-TP	p.V80A	A	GGGTTTGGCTACCATCTCCTG	NM_178558	NP_848653	64004099	Q8NEM1	ZN680_HUMAN	0			3	412	-	G	G		Lung NSC(55;0.118)|all_lung(88;0.243)	Missense_Mutation	80			KRAB.			
ZNF681	148213	broad.mit.edu	GRCh37	19	23927494	23927494	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-02-2485-01	TCGA-02-2485-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000402377.3:c.858A>G	p.Glu286=	p.E286=	ENST00000402377	NM_138286.2	286	gaA/gaG	0			1			C	E	uc002nrk.3	protein_coding	YES	CCDS12414.2			858/1938										0	c.(856-858)GAA>GAG			Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF279,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 681				ENSP00000384000		4-Apr									COSM3404056,COSM3404055	4-Apr	.		ENST00000402377	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000196172	g.chr19:23927494T>C	26457			LOW								--	--	1																																		ZNF681_uc002nrl.3_Silent_p.E217E|ZNF681_uc002nrj.3_Silent_p.E217E	1,1	1			p.E286E	NM_138286	NP_612143			1,1	ZN681_HUMAN	ZNF681	HGNC	Q96N22	ZN681_HUMAN			E9PSC0_HUMAN,E9PJB6_HUMAN		4	1000	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	UPI000022ABC8	286			C2H2-type 5; degenerate.		SNV	ZNF681,synonymous_variant,p.=,ENST00000402377,NM_138286.2;ZNF681,synonymous_variant,p.=,ENST00000395385,;ZNF681,downstream_gene_variant,,ENST00000528059,;ZNF681,downstream_gene_variant,,ENST00000531570,;	uc002nrk.3	c.858A>G	1000/6497	3	3			c.858A>G						19	SNP	c.(856-858)GAA>GAG	49	49				0	Broad	zinc finger protein 681			23927494		0.363	ENSG00000196172	17826	g.chr19:23927494T>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							267.005059	KEEP	32	55	-1	89	91	32	55	-1	272.853508	89	91	0.334711	1	0	0	0	0	0	0	1	0	--	--		0	C			ZNF681_uc002nrl.3_Silent_p.E217E|ZNF681_uc002nrj.3_Silent_p.E217E	7	GBM-02-2485-TP	p.E286E	T	CTTTGTCACATTCTTCACGTT	NM_138286	NP_612143	23927494	Q96N22	ZN681_HUMAN	0			4	1000	-	C	C		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	Silent	286			C2H2-type 5; degenerate.			
ZNF681	148213	broad.mit.edu	GRCh37	19	23927348	23927348	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0173-01	TCGA-06-0173-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000402377.3:c.1004A>G	p.Glu335Gly	p.E335G	ENST00000402377	NM_138286.2	335	gAg/gGg	0			1			C	E/G	uc002nrk.3	protein_coding	YES	CCDS12414.2			1004/1938										0	c.(1003-1005)GAG>GGG			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF279,Superfamily_domains:SSF57667	zinc finger protein 681				ENSP00000384000		4-Apr									COSM3404054,COSM3404053	4-Apr	.		ENST00000402377	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000196172	g.chr19:23927348T>C	26457			MODERATE		2.765	medium	getma.org/?cm=msa&ty=f&p=ZN681_HUMAN&rb=304&re=369&var=E335G	getma.org/pdb.php?prot=ZN681_HUMAN&from=324&to=349&var=E335G	getma.org/?cm=var&var=hg19,19,23927348,T,C&fts=all	E335G	--	--	1																																		ZNF681_uc002nrl.3_Missense_Mutation_p.E266G|ZNF681_uc002nrj.3_Missense_Mutation_p.E266G	1,1	1		probably_damaging(0.925)	p.E335G	NM_138286	NP_612143		deleterious(0.01)	1,1	ZN681_HUMAN	ZNF681	HGNC	Q96N22	ZN681_HUMAN			E9PSC0_HUMAN,E9PJB6_HUMAN		4	1146	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	UPI000022ABC8	335					SNV	ZNF681,missense_variant,p.Glu335Gly,ENST00000402377,NM_138286.2;ZNF681,missense_variant,p.Glu266Gly,ENST00000395385,;ZNF681,downstream_gene_variant,,ENST00000528059,;ZNF681,downstream_gene_variant,,ENST00000531570,;	uc002nrk.3	c.1004A>G	1146/6497	3	3			c.1004A>G						19	SNP	c.(1003-1005)GAG>GGG	60	60				0	Broad	zinc finger protein 681			23927348		0.393	ENSG00000196172	17826	g.chr19:23927348T>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-28.766872	KEEP	4	2	-1	95	84	4	2	-1	11.167583	95	84	0.030303	1	0	0	0	0	1	0	0	0	--	--		0	C			ZNF681_uc002nrl.3_Missense_Mutation_p.E266G|ZNF681_uc002nrj.3_Missense_Mutation_p.E266G	36	GBM-06-0173-TP	p.E335G	T	GTAGGGTTTCTCTCCAGTATG	NM_138286	NP_612143	23927348	Q96N22	ZN681_HUMAN	0			4	1146	-	C	C		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	Missense_Mutation	335						
ZNF681	0	broad.mit.edu	GRCh37	19	23927954	23927954	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5952-01	TCGA-19-5952-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000395385.3:c.191G>A	p.Cys64Tyr	p.C64Y	ENST00000395385		64	tGt/tAt	0			1			T	C/Y	uc002nrk.3	protein_coding	YES	CCDS12414.2			398/1938										0	c.(397-399)TGT>TAT			hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF279	zinc finger protein 681				ENSP00000384000		4-Apr									COSM3404058,COSM3404057	4-Apr	.		ENST00000402377	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000196172	g.chr19:23927954C>T	26457			MODERATE		2.62	medium	getma.org/?cm=msa&ty=f&p=ZN681_HUMAN&rb=45&re=183&var=C133Y	getma.org/pdb.php?prot=ZN681_HUMAN&from=45&to=183&var=C133Y	getma.org/?cm=var&var=hg19,19,23927954,C,T&fts=all	C133Y	--	--	1																																		ZNF681_uc002nrl.3_Missense_Mutation_p.C64Y|ZNF681_uc002nrj.3_Missense_Mutation_p.C64Y	1,1	1		possibly_damaging(0.831)	p.C133Y	NM_138286	NP_612143		tolerated(0.07)	1,1	ZN681_HUMAN	ZNF681	HGNC	Q96N22	ZN681_HUMAN			E9PSC0_HUMAN,E9PJB6_HUMAN		4	540	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	UPI000022ABC8	133					SNV	ZNF681,missense_variant,p.Cys133Tyr,ENST00000402377,NM_138286.2;ZNF681,missense_variant,p.Cys64Tyr,ENST00000395385,;ZNF681,missense_variant,p.Cys64Tyr,ENST00000528059,;ZNF681,missense_variant,p.Cys64Tyr,ENST00000531570,;	uc002nrk.3	c.398G>A	540/6497	2	2			c.398G>A						19	SNP	c.(397-399)TGT>TAT	28	28				0	Broad	zinc finger protein 681			23927954		0.313	ENSG00000196172	17826	g.chr19:23927954C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							66.262094	KEEP	16	11	-1	24	37	16	11	-1	68.040331	24	37	0.333333	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF681_uc002nrl.3_Missense_Mutation_p.C64Y|ZNF681_uc002nrj.3_Missense_Mutation_p.C64Y	172	GBM-19-5952-TP	p.C133Y	C	AGTTGGCAAACATTGGTTAAG	NM_138286	NP_612143	23927954	Q96N22	ZN681_HUMAN	0			4	540	-	T	T		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	Missense_Mutation	133						
ZNF683	0	broad.mit.edu	GRCh37	1	26691223	26691223	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-27-2528-01	TCGA-27-2528-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000403843.1:c.814C>T	p.Arg272Ter	p.R272*	ENST00000403843		272	Cga/Tga	0	T:0.0002		1			A	R/*	uc001bmg.1	protein_coding					814/1575										0	c.(814-816)CGA>TGA			hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF112	zinc finger protein 683			T:0	ENSP00000384782		7-Apr	8.24E-06		8.65E-05						rs374469495,COSM3400640,COSM3400641	7-Apr	.		ENST00000403843	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000176083	g.chr1:26691223G>A	28495			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,26691223,G,A&fts=all	R272*	--	--	1																																		ZNF683_uc001bmh.1_Nonsense_Mutation_p.R272*|ZNF683_uc009vsj.1_Nonsense_Mutation_p.R272*	0,1,1				p.R272*	NM_173574	NP_775845			0,1,1	ZN683_HUMAN	ZNF683	HGNC	Q8IZ20	ZN683_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)			4	932	-		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	UPI0000EE2F2D	272					SNV	ZNF683,stop_gained,p.Arg272Ter,ENST00000436292,;ZNF683,stop_gained,p.Arg272Ter,ENST00000403843,;ZNF683,stop_gained,p.Arg272Ter,ENST00000374204,NM_173574.2,NM_001114759.1;ZNF683,stop_gained,p.Arg272Ter,ENST00000349618,;ZNF683,stop_gained,p.Arg280Ter,ENST00000455900,;ZNF683,downstream_gene_variant,,ENST00000451801,;ZNF683,downstream_gene_variant,,ENST00000416125,;ZNF683,downstream_gene_variant,,ENST00000423508,;ZNF683,downstream_gene_variant,,ENST00000453132,;ZNF683,downstream_gene_variant,,ENST00000454975,;	uc001bmg.1	c.814C>T	892/1670	5	1			c.814C>T						1	SNP	c.(814-816)CGA>TGA	64	64				0	Broad	zinc finger protein 683			26691223		0.652	ENSG00000176083	17828	g.chr1:26691223G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							114.415462	KEEP	25	20	-1	28	36	25	20	-1	115.063861	28	36	0.406977	1	0	0	0	0	0	1	0	0	--	--		0	A			ZNF683_uc001bmh.1_Nonsense_Mutation_p.R272*|ZNF683_uc009vsj.1_Nonsense_Mutation_p.R272*	205	GBM-27-2528-TP	p.R272*	G	CCTGGATTTCGGGCCTGGGAA	NM_173574	NP_775845	26691223	Q8IZ20	ZN683_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)	4	932	-	A	A		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	Nonsense_Mutation	272						
ZNF688	146542	broad.mit.edu	GRCh37	16	30581364	30581364	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-01	TCGA-06-0190-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000223459.6:c.704C>T	p.Ser235Phe	p.S235F	ENST00000223459	NM_145271.3	235	tCc/tTc	0		A:0.0008	1	A:0		A	S/F	uc002dyt.2	protein_coding	YES	CCDS10684.1			704/831										0	c.(703-705)TCC>TTC			hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF101	zinc finger protein 688 isoform a		A:0		ENSP00000223459	A:0	3-Mar	1.65E-05	0.000126	9.36E-05						rs201261814,COSM3402270,COSM3402271	3-Mar	.		ENST00000223459	Transcript		A:0.0002	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000229809	g.chr16:30581364G>A	30489			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=ZN688_HUMAN&rb=223&re=276&var=S235F	NA	getma.org/?cm=var&var=hg19,16,30581364,G,A&fts=all	S235F	--	--	1																																		ZNF688_uc002dys.2_Missense_Mutation_p.S221F|uc002dyu.2_5'Flank	0,1,1	1		probably_damaging(0.98)	p.S235F	NM_145271	NP_660314	A:0	deleterious(0)	0,1,1	ZN688_HUMAN	ZNF688	HGNC	P0C7X2	ZN688_HUMAN					3	1482	-			UPI0000071FFC	235					SNV	ZNF688,missense_variant,p.Ser235Phe,ENST00000223459,NM_145271.3;ZNF688,missense_variant,p.Ser221Phe,ENST00000563276,;ZNF688,missense_variant,p.Ser221Phe,ENST00000395219,NM_001024683.1;ZNF688,downstream_gene_variant,,ENST00000567855,;ZNF688,downstream_gene_variant,,ENST00000566632,;ZNF688,downstream_gene_variant,,ENST00000563707,;AC002310.7,upstream_gene_variant,,ENST00000492040,;AC002310.7,upstream_gene_variant,,ENST00000486926,;ZNF688,downstream_gene_variant,,ENST00000563665,;ZNF688,downstream_gene_variant,,ENST00000562455,;ZNF785,downstream_gene_variant,,ENST00000562128,;	uc002dyt.2	c.704C>T	1809/2506	2	2			c.704C>T						16	SNP	c.(703-705)TCC>TTC	46	46				0	Broad	zinc finger protein 688 isoform a			30581364		0.716	ENSG00000229809	17831	g.chr16:30581364G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							12.16274	KEEP	3	3	-1	6	15	3	3	-1	13.856256	6	15	0.217391	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF688_uc002dys.2_Missense_Mutation_p.S221F|uc002dyu.2_5'Flank	43	GBM-06-0190-TP	p.S235F	G	CCCGGAGCAGGAGCGGTGGAT	NM_145271	NP_660314	30581364	P0C7X2	ZN688_HUMAN	0			3	1482	-	A	A			Missense_Mutation	235						
ZNF689	115509	broad.mit.edu	GRCh37	16	30616193	30616193	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01	TCGA-06-5858-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000287461.3:c.895C>T	p.Arg299Cys	p.R299C	ENST00000287461	NM_138447.2	299	Cgc/Tgc	0			1			A	R/C	uc002dyx.2	protein_coding	YES	CCDS10686.1			895/1503										0	c.(895-897)CGC>TGC			PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF23,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein HIT-39				ENSP00000287461		3-Mar	8.25E-06							9.75E-05	rs774313641,COSM3402272	3-Mar	.		ENST00000287461	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000156853	g.chr16:30616193G>A	25173			MODERATE		1.09	low	getma.org/?cm=msa&ty=f&p=ZN689_HUMAN&rb=255&re=320&var=R299C	getma.org/pdb.php?prot=ZN689_HUMAN&from=275&to=300&var=R299C	getma.org/?cm=var&var=hg19,16,30616193,G,A&fts=all	R299C	--	--	1																																		ZNF689_uc010bzy.2_5'UTR	0,1	1		probably_damaging(0.98)	p.R299C	NM_138447	NP_612456		tolerated(0.08)	0,1	ZN689_HUMAN	ZNF689	HGNC	Q96CS4	ZN689_HUMAN	Colorectal(24;0.198)				3	1215	-			UPI000006CDAD	299			C2H2-type 6.		SNV	ZNF689,missense_variant,p.Arg299Cys,ENST00000287461,NM_138447.2;RP11-146F11.5,intron_variant,,ENST00000563540,;ZNF689,non_coding_transcript_exon_variant,,ENST00000566673,;ZNF689,non_coding_transcript_exon_variant,,ENST00000563304,;ZNF689,non_coding_transcript_exon_variant,,ENST00000565440,;ZNF689,non_coding_transcript_exon_variant,,ENST00000564262,;ZNF689,downstream_gene_variant,,ENST00000565710,;	uc002dyx.2	c.895C>T	1233/3547	2	2			c.895C>T						16	SNP	c.(895-897)CGC>TGC	32	32				0	Broad	zinc finger protein HIT-39			30616193		0.672	ENSG00000156853	17832	g.chr16:30616193G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							110.223383	KEEP	20	15	-1	3	4	20	15	-1	113.994969	3	4	0.820513	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF689_uc010bzy.2_5'UTR	102	GBM-06-5858-TP	p.R299C	G	GTGCGCTGGCGGAAGCGGCGG	NM_138447	NP_612456	30616193	Q96CS4	ZN689_HUMAN	0	Colorectal(24;0.198)		3	1215	-	A	A			Missense_Mutation	299			C2H2-type 6.			
ZNF696	0	broad.mit.edu	GRCh37	8	144378380	144378380	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-32-4210-01	TCGA-32-4210-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000330143.3:c.535A>G	p.Arg179Gly	p.R179G	ENST00000330143	NM_030895.2	179	Agg/Ggg	0			1			G	R/G	uc003yxy.3	protein_coding	YES	CCDS6399.1			535/1125										0	c.(535-537)AGG>GGG			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF110,Superfamily_domains:SSF57667	zinc finger protein 696				ENSP00000328515		3-Mar									COSM3748385	3-Mar	.		ENST00000330143	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000185730	g.chr8:144378380A>G	25872			MODERATE		1.635	low	getma.org/?cm=msa&ty=f&p=ZN696_HUMAN&rb=147&re=212&var=R179G	getma.org/pdb.php?prot=ZN696_HUMAN&from=167&to=192&var=R179G	getma.org/?cm=var&var=hg19,8,144378380,A,G&fts=all	R179G	--	--	1																																			1	1		probably_damaging(0.925)	p.R179G	NM_030895	NP_112157		deleterious(0)	1	ZN696_HUMAN	ZNF696	HGNC	Q9H7X3	ZN696_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		E5RG39_HUMAN,E5RFI7_HUMAN		3	944	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		UPI000013E0BC	179					SNV	ZNF696,missense_variant,p.Arg179Gly,ENST00000330143,NM_030895.2;ZNF696,missense_variant,p.Arg179Gly,ENST00000518575,;ZNF696,downstream_gene_variant,,ENST00000521537,;ZNF696,downstream_gene_variant,,ENST00000520333,;ZNF696,downstream_gene_variant,,ENST00000523891,;ZNF696,downstream_gene_variant,,ENST00000518432,;	uc003yxy.3	c.535A>G	944/2795	3	3			c.535A>G						8	SNP	c.(535-537)AGG>GGG	10	10				0	Broad	zinc finger protein 696			144378380		0.697	ENSG00000185730	17837	g.chr8:144378380A>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							4.638996	KEEP	0	2	-1	8	8	0	2	-1	6.836554	8	8	0.125	1	0	0	0	0	1	0	0	0	--	--		0	G				245	GBM-32-4210-TP	p.R179G	A	CAGCGGGGAGAGGCCCTACGC	NM_030895	NP_112157	144378380	Q9H7X3	ZN696_HUMAN	0	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		3	944	+	G	G	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Missense_Mutation	179						
ZNF697	90874	broad.mit.edu	GRCh37	1	120165750	120165750	+	stop_gained	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0241-01	TCGA-06-0241-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000421812.2:c.1216G>T	p.Glu406Ter	p.E406*	ENST00000421812	NM_001080470.1	406	Gag/Tag	0			1			A	E/*	uc001ehy.1	protein_coding	YES	CCDS44202.1			1216/1638									ovary(1)	1	c.(1216-1218)GAG>TAG			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF55,Superfamily_domains:SSF57667	zinc finger protein 697				ENSP00000396857		3-Mar									COSM3399605	3-Mar	.		ENST00000421812	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000143067	g.chr1:120165750C>A	32034			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,1,120165750,C,A&fts=all	E406*	--	--	1																																			1	1			p.E406*	NM_001080470	NP_001073939			1	ZN697_HUMAN	ZNF697	HGNC	Q5TEC3	ZN697_HUMAN		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)	Q8N508_HUMAN		3	1330	-	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)	UPI0000DD78D7	406					SNV	ZNF697,stop_gained,p.Glu406Ter,ENST00000421812,NM_001080470.1;	uc001ehy.1	c.1216G>T	1336/5041	5	1			c.1216G>T						1	SNP	c.(1216-1218)GAG>TAG	64	64			ovary(1)	1	Broad	zinc finger protein 697			120165750		0.672	ENSG00000143067	17838	g.chr1:120165750C>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							17.04712	KEEP	6	0	-1	3	5	6	0	-1	17.109504	3	5	0.428571	1	0	0	0	0	0	1	0	0	--	--		0	A				57	GBM-06-0241-TP	p.E406*	C	TAGGGCTTCTCGCCCGTGTGC	NM_001080470	NP_001073939	120165750	Q5TEC3	ZN697_HUMAN	0		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)	3	1330	-	A	A	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)	Nonsense_Mutation	406						
ZNF697	90874		GRCh37	1	120165681	120165681	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01	TCGA-74-6578-01																				ENST00000421812.2:c.1285C>T	p.Arg429Cys	p.R429C	ENST00000421812	NM_001080470.1	429	Cgc/Tgc	0																																																																																																																																																																																																																																												
ZNF700	90592		GRCh37	19	12059987	12059988	+	frameshift_variant	Frame_Shift_Del	DEL	CT	CT	-			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000254321.5:c.1149_1150del	p.Thr385TrpfsTer6	p.T385Wfs*6	ENST00000254321	NM_144566.2	383	aCT/a	0																																																																																																																																																																																																																																												
ZNF701	0	broad.mit.edu	GRCh37	19	53086225	53086228	+	frameshift_variant	Frame_Shift_Del	DEL	AAGG	AAGG	-			TCGA-12-3653-01	TCGA-12-3653-01	AAGG	AAGG							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301093.2:c.1111_1114delAAGG	p.Lys371PhefsTer69	p.K371Ffs*69	ENST00000301093		371	AAGGtt/tt	0			1			-	KV/X	uc002pzs.1	protein_coding		CCDS54311.1			1111-1114/1596										0	c.(913-918)AAGGTTfs			PROSITE_profiles:PS50157,hmmpanther:PTHR24407:SF12,hmmpanther:PTHR24407,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	zinc finger protein 701				ENSP00000301093		5-May										5-May	.		ENST00000301093	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000167562	g.chr19:53086225_53086228delAAGG	25597			HIGH								--	--	1																																		ZNF701_uc010ydn.1_Frame_Shift_Del_p.K371fs					p.K305fs	NM_018260	NP_060730					ZNF701	HGNC	Q9NV72	ZN701_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	M0R085_HUMAN,F5GZM6_HUMAN		4	1040_1043	+			UPI0001C53D22	305_306			C2H2-type 2.		deletion	ZNF701,frameshift_variant,p.Lys371PhefsTer69,ENST00000540331,NM_001172655.1;ZNF701,frameshift_variant,p.Lys305PhefsTer69,ENST00000391785,NM_018260.2;ZNF701,frameshift_variant,p.Lys371PhefsTer69,ENST00000301093,;ZNF701,downstream_gene_variant,,ENST00000593941,;ZNF701,downstream_gene_variant,,ENST00000596514,;CTD-3099C6.7,intron_variant,,ENST00000599222,;	uc002pzs.1	c.913_916delAAGG	1146-1149/2610	5	5			c.913_916delAAGG						19	DEL	c.(913-918)AAGGTTfs	17	17				0	Broad	zinc finger protein 701			53086228		0.387	ENSG00000167562	17843	g.chr19:53086225_53086228delAAGG	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	NSCLC(89;451 1475 9611 20673 52284)			NSCLC(89;451 1475 9611 20673 52284)																0.38	1	1	0	1	0	0	0	0	0	--	--		0	-			ZNF701_uc010ydn.1_Frame_Shift_Del_p.K371fs	128	GBM-12-3653-TP	p.K305fs	AAGG	TGAATGTGGCAAGGTTTTTAATCA	NM_018260	NP_060730	53086225	Q9NV72	ZN701_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	4	1040_1043	+	-	-			Frame_Shift_Del	305_306			C2H2-type 2.			
ZNF701	0	broad.mit.edu	GRCh37	19	53085986	53085986	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-4932-01	TCGA-76-4932-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000301093.2:c.872A>G	p.Asn291Ser	p.N291S	ENST00000301093		291	aAt/aGt	0			1			G	N/S	uc002pzs.1	protein_coding		CCDS54311.1			872/1596										0	c.(673-675)AAT>AGT			PROSITE_profiles:PS50157,hmmpanther:PTHR24407:SF12,hmmpanther:PTHR24407,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	zinc finger protein 701				ENSP00000301093		5-May									COSM3404527,COSM3404526	5-May	.		ENST00000301093	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000167562	g.chr19:53085986A>G	25597			MODERATE		-0.045	neutral	getma.org/?cm=msa&ty=f&p=ZN701_HUMAN&rb=49&re=228&var=N225S	NA	getma.org/?cm=var&var=hg19,19,53085986,A,G&fts=all	N225S	--	--	1																																		ZNF701_uc010ydn.1_Missense_Mutation_p.N291S	1,1			probably_damaging(0.987)	p.N225S	NM_018260	NP_060730		tolerated(0.5)	1,1		ZNF701	HGNC	Q9NV72	ZN701_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	M0R085_HUMAN,F5GZM6_HUMAN		4	801	+			UPI0001C53D22	225					SNV	ZNF701,missense_variant,p.Asn291Ser,ENST00000540331,NM_001172655.1;ZNF701,missense_variant,p.Asn225Ser,ENST00000391785,NM_018260.2;ZNF701,missense_variant,p.Asn291Ser,ENST00000301093,;ZNF701,downstream_gene_variant,,ENST00000593941,;ZNF701,downstream_gene_variant,,ENST00000596514,;CTD-3099C6.7,intron_variant,,ENST00000599222,;	uc002pzs.1	c.674A>G	907/2610	3	3			c.674A>G						19	SNP	c.(673-675)AAT>AGT	64	64				0	Broad	zinc finger protein 701			53085986		0.368	ENSG00000167562	17843	g.chr19:53085986A>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	NSCLC(89;451 1475 9611 20673 52284)			NSCLC(89;451 1475 9611 20673 52284)			123.631528	KEEP	17	20	-1	45	34	17	20	-1	126.491004	45	34	0.330357	1	0	0	0	0	1	0	0	0	--	--		0	G			ZNF701_uc010ydn.1_Missense_Mutation_p.N291S	271	GBM-76-4932-TP	p.N225S	A	AAAGCCTTTAATGGTAGCTCA	NM_018260	NP_060730	53085986	Q9NV72	ZN701_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	4	801	+	G	G			Missense_Mutation	225						
ZNF705A	440077	broad.mit.edu	GRCh37	12	8328517	8328517	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0211-01	TCGA-06-0211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359286.4:c.297C>T	p.Asp99=	p.D99=	ENST00000359286	NM_001004328.2	99	gaC/gaT	0	T:0		1			T	D	uc001qud.1	protein_coding	YES	CCDS31737.1			297/903										0	c.(295-297)GAC>GAT			hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF18	zinc finger protein 705A			T:0.0001	ENSP00000352233		5-Apr	0.000165	0.000104				0.000167		0.00049	rs375681214,COSM3399140	5-Apr	common_variant		ENST00000359286	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000196946	g.chr12:8328517C>T	32281			LOW								--	--	1																																			0,1	1			p.D99D	NM_001004328	NP_001004328			0,1	Z705A_HUMAN	ZNF705A	HGNC	Q6ZN79	Z705A_HUMAN		Kidney(36;0.0877)	J3KPU9_HUMAN,B5MCH6_HUMAN		4	369	+			UPI000035E780	99					SNV	ZNF705A,synonymous_variant,p.=,ENST00000359286,NM_001004328.2,NM_001278713.1;ZNF705A,synonymous_variant,p.=,ENST00000396570,;ZNF705A,synonymous_variant,p.=,ENST00000398526,;ZNF705A,downstream_gene_variant,,ENST00000402465,;FAM66C,upstream_gene_variant,,ENST00000544214,;FAM66C,upstream_gene_variant,,ENST00000454799,;FAM66C,upstream_gene_variant,,ENST00000541558,;FAM66C,upstream_gene_variant,,ENST00000456135,;	uc001qud.1	c.297C>T	386/3455	1	1			c.297C>T						12	SNP	c.(295-297)GAC>GAT	14	14				0	Broad	zinc finger protein 705A			8328517		0.343	ENSG00000196946	17845	g.chr12:8328517C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-55.079553	KEEP	2	5	-1	166	191	2	5	-1	9.917235	166	191	0.023346	1	0	0	0	0	0	0	1	0	--	--		0	T				48	GBM-06-0211-TP	p.D99D	C	CCAGAAAAGACGCATCCACCA	NM_001004328	NP_001004328	8328517	Q6ZN79	Z705A_HUMAN	0		Kidney(36;0.0877)	4	369	+	T	T			Silent	99						
ZNF709	0	broad.mit.edu	GRCh37	19	12575498	12575498	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01	TCGA-14-0789-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000397732.3:c.1238C>T	p.Thr413Ile	p.T413I	ENST00000397732	NM_152601.3	413	aCt/aTt	0			1			A	T/I	uc002mtv.3	protein_coding	YES	CCDS42504.1			1238/1926										0	c.(1237-1239)ACT>ATT			PROSITE_profiles:PS50157,hmmpanther:PTHR24379,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 709 isoform a				ENSP00000380840		4-Apr									COSM229330	4-Apr	.		ENST00000397732	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000242852	g.chr19:12575498G>A	20629			MODERATE		0.08	neutral	getma.org/?cm=msa&ty=f&p=ZN709_HUMAN&rb=386&re=451&var=T413I	getma.org/pdb.php?prot=ZN709_HUMAN&from=406&to=431&var=T413I	getma.org/?cm=var&var=hg19,19,12575498,G,A&fts=all	T413I	--	--	1																																		ZNF709_uc002mtw.3_Missense_Mutation_p.T381I|ZNF709_uc002mtx.3_Missense_Mutation_p.T413I	1	1		probably_damaging(0.99)	p.T413I	NM_152601	NP_689814		tolerated(0.3)	1	ZN709_HUMAN	ZNF709	HGNC	Q8N972	ZN709_HUMAN					4	1399	-			UPI000006CF50	413			C2H2-type 11.		SNV	ZNF709,missense_variant,p.Thr413Ile,ENST00000397732,NM_152601.3;ZNF709,missense_variant,p.Thr413Ile,ENST00000428311,;ZNF709,downstream_gene_variant,,ENST00000455490,;CTD-3105H18.7,downstream_gene_variant,,ENST00000420038,;CTD-3105H18.18,intron_variant,,ENST00000598753,;	uc002mtv.3	c.1238C>T	1410/4910	2	2			c.1238C>T						19	SNP	c.(1237-1239)ACT>ATT	29	29				0	Broad	zinc finger protein 709 isoform a			12575498		0.418	ENSG00000242852	17850	g.chr19:12575498G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	GBM(33;565 669 12371 29134 51667)			GBM(33;565 669 12371 29134 51667)			-75.596473	KEEP	3	3	-1	180	149	3	3	-1	8.054867	180	149	0.015873	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF709_uc002mtw.3_Missense_Mutation_p.T381I|ZNF709_uc002mtx.3_Missense_Mutation_p.T413I	136	GBM-14-0789-TP	p.T413I	G	TCCAGTGTGAGTTCTTTCATG	NM_152601	NP_689814	12575498	Q8N972	ZN709_HUMAN	0			4	1399	-	A	A			Missense_Mutation	413			C2H2-type 11.			
ZNF709	163051		GRCh37	19	12575471	12575471	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01	TCGA-06-6697-01																				ENST00000397732.3:c.1265G>A	p.Cys422Tyr	p.C422Y	ENST00000397732	NM_152601.3	422	tGt/tAt	0																																																																																																																																																																																																																																												
ZNF71	0	broad.mit.edu	GRCh37	19	57133247	57133247	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328070.6:c.592C>T	p.Arg198Cys	p.R198C	ENST00000328070	NM_021216.4	198	Cgc/Tgc	0			1			T	R/C	uc002qnm.3	protein_coding	YES	CCDS12947.1			592/1470									skin(1)	1	c.(592-594)CGC>TGC			PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF115,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 71				ENSP00000328245		3-Mar									COSM3404685	3-Mar	.		ENST00000328070	Transcript				nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000197951	g.chr19:57133247C>T	13141			MODERATE		1.02	low	getma.org/?cm=msa&ty=f&p=ZNF71_HUMAN&rb=168&re=229&var=R198C	getma.org/pdb.php?prot=ZNF71_HUMAN&from=198&to=199&var=R198C	getma.org/?cm=var&var=hg19,19,57133247,C,T&fts=all	R198C	--	--	1																																			1	1		possibly_damaging(0.646)	p.R198C	NM_021216	NP_067039		tolerated(0.06)	1	ZNF71_HUMAN	ZNF71	HGNC	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	M0R0C0_HUMAN		3	830	+			UPI00000437FA	198			C2H2-type 3.		SNV	ZNF71,missense_variant,p.Arg198Cys,ENST00000328070,NM_021216.4;ZNF71,downstream_gene_variant,,ENST00000599599,;	uc002qnm.3	c.592C>T	826/5428	2	2			c.592C>T						19	SNP	c.(592-594)CGC>TGC	43	43			skin(1)	1	Broad	zinc finger protein 71			57133247		0.637	ENSG00000197951	17851	g.chr19:57133247C>T		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							37.570536	KEEP	6	7	-1	12	9	6	7	-1	37.746176	12	9	0.419355	1	0	0	0	0	1	0	0	0	--	--		0	T				177	GBM-19-5959-TP	p.R198C	C	CTTCAGCCAGCGCATGAACCT	NM_021216	NP_067039	57133247	Q9NQZ8	ZNF71_HUMAN	0		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	830	+	T	T			Missense_Mutation	198			C2H2-type 3.			
ZNF71	0	broad.mit.edu	GRCh37	19	57132720	57132721	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G			TCGA-27-2521-01	TCGA-27-2521-01	-	-							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328070.6:c.71dupG	p.Pro25ThrfsTer53	p.P25Tfs*53	ENST00000328070	NM_021216.4	22	acg/acGg	0			1			G	T/TX	uc002qnm.3	protein_coding	YES	CCDS12947.1			65-66/1470									skin(1)	1	c.(64-66)ACGfs			hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF115	zinc finger protein 71				ENSP00000328245		3-Mar									rs768627914	3-Mar	.		ENST00000328070	Transcript				nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000197951	g.chr19:57132720_57132721insG	13141	6		HIGH								--	--	1																																				1			p.T22fs	NM_021216	NP_067039				ZNF71_HUMAN	ZNF71	HGNC	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	M0R0C0_HUMAN		3	303_304	+			UPI00000437FA	22					insertion	ZNF71,frameshift_variant,p.Pro25ThrfsTer53,ENST00000328070,NM_021216.4;ZNF71,frameshift_variant,p.Pro25ThrfsTer53,ENST00000599599,;	uc002qnm.3	c.65_66insG	299-300/5428	5	5			c.65_66insG						19	INS	c.(64-66)ACGfs	51	51			skin(1)	1	Broad	zinc finger protein 71			57132721		0.554	ENSG00000197951	17851	g.chr19:57132720_57132721insG		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding																				0.82	1	0	0	1	1	0	0	0	0	--	--		0	G				200	GBM-27-2521-TP	p.T22fs	-	GGGGAGGCCACGGGGGGACCCA	NM_021216	NP_067039	57132720	Q9NQZ8	ZNF71_HUMAN	0		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	303_304	+	G	G			Frame_Shift_Ins	22						
ZNF71	58491		GRCh37	19	57133286	57133286	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01	TCGA-06-0140-01																				ENST00000328070.6:c.631G>A	p.Glu211Lys	p.E211K	ENST00000328070	NM_021216.4	211	Gag/Aag	0																																																																																																																																																																																																																																												
ZNF710	0	broad.mit.edu	GRCh37	15	90610834	90610834	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-6701-01	TCGA-06-6701-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268154.4:c.465C>T	p.Ala155=	p.A155=	ENST00000268154	NM_198526.2	155	gcC/gcT	0		T:0	1	T:0		T	A	uc002bov.1	protein_coding	YES	CCDS10358.1			465/1995									central_nervous_system(1)	1	c.(463-465)GCC>GCT			hmmpanther:PTHR24390,hmmpanther:PTHR24390:SF43	zinc finger protein 710		T:0.001		ENSP00000268154	T:0	5-Feb	4.15E-05		0.000106			7.48E-05			rs552089563,COSM3402008	5-Feb	.		ENST00000268154	Transcript		T:0.0002	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000140548	g.chr15:90610834C>T	25352			LOW								--	--	1																																			0,1	1			p.A155A	NM_198526	NP_940928	T:0		0,1	ZN710_HUMAN	ZNF710	HGNC	Q8N1W2	ZN710_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)		H0YKZ0_HUMAN		2	588	+	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		UPI000013D7A4	155					SNV	ZNF710,synonymous_variant,p.=,ENST00000268154,NM_198526.2;ZNF710,upstream_gene_variant,,ENST00000558883,;ZNF710,upstream_gene_variant,,ENST00000559360,;ZNF710,downstream_gene_variant,,ENST00000559419,;	uc002bov.1	c.465C>T	716/4617	1	1			c.465C>T						15	SNP	c.(463-465)GCC>GCT	5	5			central_nervous_system(1)	1	Broad	zinc finger protein 710			90610834		0.687	ENSG00000140548	17852	g.chr15:90610834C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							22.096574	KEEP	6	2	-1	8	7	6	2	-1	22.455361	8	7	0.363636	1	0	0	0	0	0	0	1	0	--	--		0	T				115	GBM-06-6701-TP	p.A155A	C	AGAGCAGCGCCGTCAAGATGA	NM_198526	NP_940928	90610834	Q8N1W2	ZN710_HUMAN	0	BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)		2	588	+	T	T	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		Silent	155						
ZNF710	0	broad.mit.edu	GRCh37	15	90610585	90610585	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6191-01	TCGA-76-6191-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000268154.4:c.216C>T	p.Asn72=	p.N72=	ENST00000268154	NM_198526.2	72	aaC/aaT	0	T:0	T:0	1	T:0		T	N	uc002bov.1	protein_coding	YES	CCDS10358.1			216/1995									central_nervous_system(1)	1	c.(214-216)AAC>AAT			hmmpanther:PTHR24390,hmmpanther:PTHR24390:SF43	zinc finger protein 710		T:0	T:0.0002	ENSP00000268154	T:0	5-Feb	5.79E-05					8.05E-05		0.000248	rs372462461	5-Feb	.		ENST00000268154	Transcript		T:0.0002	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000140548	g.chr15:90610585C>T	25352			LOW								--	--	1																																				1			p.N72N	NM_198526	NP_940928	T:0.001			ZN710_HUMAN	ZNF710	HGNC	Q8N1W2	ZN710_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)		H0YKZ0_HUMAN		2	339	+	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		UPI000013D7A4	72					SNV	ZNF710,synonymous_variant,p.=,ENST00000268154,NM_198526.2;ZNF710,synonymous_variant,p.=,ENST00000559419,;ZNF710,upstream_gene_variant,,ENST00000558883,;ZNF710,upstream_gene_variant,,ENST00000559360,;	uc002bov.1	c.216C>T	467/4617	1	1			c.216C>T						15	SNP	c.(214-216)AAC>AAT	12	12			central_nervous_system(1)	1	Broad	zinc finger protein 710			90610585		0.711	ENSG00000140548	17852	g.chr15:90610585C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							7.67697	KEEP	0	3	-1	0	0	0	3	-1	7.453751	0	0	1	1	0	0	0	0	0	0	1	0	--	--		0	T				274	GBM-76-6191-TP	p.N72N	C	TGGCCTGCAACGGGAGGGCCT	NM_198526	NP_940928	90610585	Q8N1W2	ZN710_HUMAN	0	BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)		2	339	+	T	T	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		Silent	72						
ZNF711	7552		GRCh37	X	84526085	84526085	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000373165.3:c.1537G>A	p.Gly513Ser	p.G513S	ENST00000373165	NM_021998.4	513	Ggt/Agt	0																																																																																																																																																																																																																																												
ZNF713	0	broad.mit.edu	GRCh37	7	56007178	56007178	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-6698-01	TCGA-06-6698-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000429591.2:c.772T>C	p.Ser258Pro	p.S258P	ENST00000429591	NM_182633.1	258	Tca/Cca	0			1			C	S/P	uc003trc.1	protein_coding	YES	CCDS34639.1			772/1293									ovary(2)	2	c.(772-774)TCA>CCA			PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF80,hmmpanther:PTHR24384,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	zinc finger protein 713				ENSP00000416662		4-Apr									COSM3748372	4-Apr	.		ENST00000429591	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000178665	g.chr7:56007178T>C	22043			MODERATE		2.935	medium	getma.org/?cm=msa&ty=f&p=ZN713_HUMAN&rb=60&re=259&var=S258P	getma.org/pdb.php?prot=ZN713_HUMAN&from=60&to=259&var=S258P	getma.org/?cm=var&var=hg19,7,56007178,T,C&fts=all	S258P	--	--	1																																		ZNF713_uc003tra.1_Missense_Mutation_p.S271P|MRPS17_uc003trb.2_Intron	1	1		possibly_damaging(0.559)	p.S258P	NM_182633	NP_872439		tolerated(0.45)	1	ZN713_HUMAN	ZNF713	HGNC	Q8N859	ZN713_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)				4	810	+	Breast(14;0.214)		UPI000007283F	258					SNV	ZNF713,missense_variant,p.Ser258Pro,ENST00000429591,NM_182633.1;MRPS17,intron_variant,,ENST00000426595,;	uc003trc.1	c.772T>C	810/3550	3	3			c.772T>C						7	SNP	c.(772-774)TCA>CCA	4	4			ovary(2)	2	Broad	zinc finger protein 713			56007178		0.423	ENSG00000178665	17854	g.chr7:56007178T>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-20.044539	KEEP	2	1	-1	55	59	2	1	-1	6.481922	55	59	0.027778	1	0	0	0	0	1	0	0	0	--	--		0	C			ZNF713_uc003tra.1_Missense_Mutation_p.S271P|MRPS17_uc003trb.2_Intron	112	GBM-06-6698-TP	p.S258P	T	CAGCCACACCTCATCTCTTAG	NM_182633	NP_872439	56007178	Q8N859	ZN713_HUMAN	0	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		4	810	+	C	C	Breast(14;0.214)		Missense_Mutation	258						
ZNF717	100131827		GRCh37	3	75790814	75790814	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000422325.1:c.131G>A	p.Arg44Lys	p.R44K	ENST00000422325	NM_001128223.1	44	aGg/aAg	0																																																																																																																																																																																																																																												
ZNF717	100131827		GRCh37	3	75790798	75790798	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000422325.1:c.147C>T	p.Asp49=	p.D49=	ENST00000422325	NM_001128223.1	49	gaC/gaT	0																																																																																																																																																																																																																																												
ZNF718	255403	broad.mit.edu	GRCh37	4	155414	155414	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T			TCGA-06-0749-01	TCGA-06-0749-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000510175.1:n.849C>T		p.*283*	ENST00000510175				0		T:0	1	T:0		T		uc003fzt.3	lincRNA	YES														0	c.(937-939)TGC>TGT				zinc finger protein 718		T:0			T:0	2-Feb	0.000371		9.37E-05			1.58E-05		0.00266	rs539850096	2-Feb	common_variant		ENST00000510175	Transcript		T:0.0012	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000250312	g.chr4:155414C>T	26889			MODIFIER								--	--	1																																		ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_Missense_Mutation_p.A93V		1			p.C313C	NM_001039127	NP_001034216	T:0.0061				ZNF718	HGNC	Q3SXZ3	ZN718_HUMAN		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)			8	1072	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)		313			C2H2-type 6.		SNV	ZNF718,non_coding_transcript_exon_variant,,ENST00000510175,;ZNF718,non_coding_transcript_exon_variant,,ENST00000511079,;ZNF718,non_coding_transcript_exon_variant,,ENST00000502662,;ZNF718,non_coding_transcript_exon_variant,,ENST00000400172,;	uc003fzt.3	c.939C>T	849/3214	2	2			c.939C>T						4	SNP	c.(937-939)TGC>TGT	44	44				0	Broad	zinc finger protein 718			155414		0.373	ENSG00000250312	17856	g.chr4:155414C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							23.325929	KEEP	4	6	-1	23	16	4	6	-1	26.907946	23	16	0.212766	1	0	0	0	0	0	0	1	0	--	--		0	T			ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_Missense_Mutation_p.A93V	69	GBM-06-0749-TP	p.C313C	C	CCTTCTCATGCGAAGAATGTG	NM_001039127	NP_001034216	155414	Q3SXZ3	ZN718_HUMAN	0		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)	8	1072	+	T	T		all_cancers(4;0.0738)|all_epithelial(65;0.139)	Silent	313			C2H2-type 6.			
ZNF718	0	broad.mit.edu	GRCh37	4	155819	155819	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	G			TCGA-32-4211-01	TCGA-32-4211-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000510175.1:n.1254T>G		*418*	ENST00000510175				0			1			G		uc003fzt.3	lincRNA	YES														0	c.(1342-1344)GAT>GAG				zinc finger protein 718						2-Feb										2-Feb	.		ENST00000510175	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000250312	g.chr4:155819T>G	26889			MODIFIER		-1.775	neutral	getma.org/?cm=msa&ty=f&p=ZN718_HUMAN&rb=417&re=478&var=D448E	getma.org/pdb.php?prot=ZN718_HUMAN&from=437&to=462&var=D448E	getma.org/?cm=var&var=hg19,4,155819,T,G&fts=all	D448E	--	--	1																																		ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_3'UTR		1			p.D448E	NM_001039127	NP_001034216					ZNF718	HGNC	Q3SXZ3	ZN718_HUMAN		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)			8	1477	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)		448					SNV	ZNF718,non_coding_transcript_exon_variant,,ENST00000510175,;ZNF718,non_coding_transcript_exon_variant,,ENST00000511079,;ZNF718,non_coding_transcript_exon_variant,,ENST00000502662,;ZNF718,non_coding_transcript_exon_variant,,ENST00000400172,;	uc003fzt.3	c.1344T>G	1254/3214	3	3			c.1344T>G						4	SNP	c.(1342-1344)GAT>GAG	15	15				0	Broad	zinc finger protein 718			155819		0.353	ENSG00000250312	17856	g.chr4:155819T>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							6.908877	KEEP	3	0	-1	14	7	3	0	-1	10.204709	14	7	0.125	1	0	0	0	0	1	0	0	0	--	--		0	G			ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_3'UTR	246	GBM-32-4211-TP	p.D448E	T	ACACTGTAGATAAACCCTACA	NM_001039127	NP_001034216	155819	Q3SXZ3	ZN718_HUMAN	0		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)	8	1477	+	G	G		all_cancers(4;0.0738)|all_epithelial(65;0.139)	Missense_Mutation	448						
ZNF721	170960	broad.mit.edu	GRCh37	4	437518	437518	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0129-01	TCGA-06-0129-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000511833.2:c.738G>C	p.Glu246Asp	p.E246D	ENST00000511833	NM_133474.3	246	gaG/gaC	0			1			G	E/D	uc003gag.2	protein_coding					702/2736									ovary(1)	1	c.(736-738)GAG>GAC			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF16,Superfamily_domains:SSF57667	zinc finger protein 721				ENSP00000340524		2-Feb									COSM3409318,COSM3409317	2-Feb	.		ENST00000338977	Transcript				intracellular	nucleic acid binding|zinc ion binding	ENSG00000182903	g.chr4:437518C>G	29425			MODERATE		0.92	low	getma.org/?cm=msa&ty=f&p=ZN721_HUMAN&rb=203&re=268&var=E234D	getma.org/pdb.php?prot=ZN721_HUMAN&from=223&to=248&var=E234D	getma.org/?cm=var&var=hg19,4,437518,C,G&fts=all	E234D	--	--	1																																		ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.E278D|ZNF721_uc010ibe.2_Missense_Mutation_p.E234D	1,1			benign(0.04)	p.E246D	NM_133474	NP_597731		deleterious(0.04)	1,1	ZN721_HUMAN	ZNF721	HGNC	D9N162	D9N162_HUMAN					3	1429	-			UPI000020B95C	246					SNV	ZNF721,missense_variant,p.Glu234Asp,ENST00000338977,;ZNF721,missense_variant,p.Glu246Asp,ENST00000511833,NM_133474.3;ZNF721,intron_variant,,ENST00000506646,;ZNF721,downstream_gene_variant,,ENST00000505900,;ABCA11P,intron_variant,,ENST00000451020,;ABCA11P,intron_variant,,ENST00000507854,;ABCA11P,intron_variant,,ENST00000514396,;ZNF721,intron_variant,,ENST00000507078,;ZNF721,intron_variant,,ENST00000515578,;	uc003gag.2	c.738G>C	751/4492	3	3			c.738G>C						4	SNP	c.(736-738)GAG>GAC	4	4			ovary(1)	1	Broad	zinc finger protein 721			437518		0.368	ENSG00000182903	17857	g.chr4:437518C>G		intracellular	nucleic acid binding|zinc ion binding							36.165152	KEEP	9	7	-1	38	40	9	7	-1	46.091082	38	40	0.163043	1	0	0	0	0	1	0	0	0	--	--		0	G			ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.E278D|ZNF721_uc010ibe.2_Missense_Mutation_p.E234D	15	GBM-06-0129-TP	p.E246D	C	TGTAGGGTTTCTCTCCAGTAT	NM_133474	NP_597731	437518	D9N162	D9N162_HUMAN	0			3	1429	-	G	G			Missense_Mutation	246						
ZNF721	170960	broad.mit.edu	GRCh37	4	436548	436548	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01	TCGA-06-0174-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000511833.2:c.1708G>A	p.Ala570Thr	p.A570T	ENST00000511833	NM_133474.3	570	Gca/Aca	0			1			T	A/T	uc003gag.2	protein_coding					1672/2736									ovary(1)	1	c.(1708-1710)GCA>ACA			Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF16,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 721				ENSP00000340524		2-Feb	4.95E-05		8.64E-05	0.000116		4.50E-05		6.06E-05	rs782446741,COSM2848102,COSM2848101	2-Feb	.		ENST00000338977	Transcript				intracellular	nucleic acid binding|zinc ion binding	ENSG00000182903	g.chr4:436548C>T	29425			MODERATE		-0.525	neutral	getma.org/?cm=msa&ty=f&p=ZN721_HUMAN&rb=527&re=588&var=A558T	getma.org/pdb.php?prot=ZN721_HUMAN&from=557&to=558&var=A558T	getma.org/?cm=var&var=hg19,4,436548,C,T&fts=all	A558T	--	--	1																																		ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.A602T|ZNF721_uc010ibe.2_Missense_Mutation_p.A558T	0,1,1			benign(0.024)	p.A570T	NM_133474	NP_597731		tolerated(0.06)	0,1,1	ZN721_HUMAN	ZNF721	HGNC	D9N162	D9N162_HUMAN					3	2399	-			UPI000020B95C	570					SNV	ZNF721,missense_variant,p.Ala558Thr,ENST00000338977,;ZNF721,missense_variant,p.Ala570Thr,ENST00000511833,NM_133474.3;ZNF721,intron_variant,,ENST00000506646,;ZNF721,downstream_gene_variant,,ENST00000505900,;ABCA11P,intron_variant,,ENST00000451020,;ABCA11P,intron_variant,,ENST00000507854,;ABCA11P,intron_variant,,ENST00000514396,;ZNF721,intron_variant,,ENST00000507078,;ZNF721,intron_variant,,ENST00000515578,;	uc003gag.2	c.1708G>A	1721/4492	1	1			c.1708G>A						4	SNP	c.(1708-1710)GCA>ACA	16	16			ovary(1)	1	Broad	zinc finger protein 721			436548		0.418	ENSG00000182903	17857	g.chr4:436548C>T		intracellular	nucleic acid binding|zinc ion binding							-64.096461	KEEP	4	2	-1	157	138	4	2	-1	7.347504	157	138	0.021505	1	0	0	0	0	1	0	0	0	--	--		0	T			ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.A602T|ZNF721_uc010ibe.2_Missense_Mutation_p.A558T	37	GBM-06-0174-TP	p.A570T	C	TAAAGGTTTGCGGACTGTCTA	NM_133474	NP_597731	436548	D9N162	D9N162_HUMAN	0			3	2399	-	T	T			Missense_Mutation	570						
ZNF727	442319		GRCh37	7	63538420	63538420	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-1806-01	TCGA-06-1806-01																				ENST00000550760.3:c.993C>T	p.Asn331=	p.N331=	ENST00000550760	NM_001159522.1	331	aaC/aaT	0																																																																																																																																																																																																																																												
ZNF75D	0	broad.mit.edu	GRCh37	X	134426220	134426220	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-41-3393-01	TCGA-41-3393-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370766.3:c.591T>C	p.Pro197=	p.P197=	ENST00000370766	NM_007131.3	197	ccT/ccC	0			1			G	P	uc004eyp.2	protein_coding	YES	CCDS14648.1			591/1533										0	c.(589-591)CCT>CCC			hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF43	zinc finger protein 75				ENSP00000359802		7-Apr									COSM3405982	7-Apr	.		ENST00000370766	Transcript			viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000186376	g.chrX:134426220A>G	13145			LOW								--	--	1																																		ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_5'UTR|ZNF75D_uc004eyo.2_Intron	1	1			p.P197P	NM_007131	NP_009062			1	ZN75D_HUMAN	ZNF75D	HGNC	P51815	ZN75D_HUMAN					4	3246	-			UPI000022DD3A	197					SNV	ZNF75D,synonymous_variant,p.=,ENST00000370766,NM_007131.3;ZNF75D,intron_variant,,ENST00000370764,NM_001185063.1;ZNF75D,intron_variant,,ENST00000494295,;ZNF75D,upstream_gene_variant,,ENST00000469456,;	uc004eyp.2	c.591T>C	3301/5592	4	4			c.591T>C						23	SNP	c.(589-591)CCT>CCC	30	30				0	Broad	zinc finger protein 75			134426220		0.463	ENSG00000186376	17865	g.chrX:134426220A>G	viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							167.453698	KEEP	40	37	-1	169	193	40	37	-1	195.130799	169	193	0.204678	1	0	0	0	0	0	0	1	0	--	--		0	G			ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_5'UTR|ZNF75D_uc004eyo.2_Intron	255	GBM-41-3393-TP	p.P197P	A	TTTCATATACAGGCTGGGTTT	NM_007131	NP_009062	134426220	P51815	ZN75D_HUMAN	0			4	3246	-	G	G			Silent	197						
ZNF75D	7626		GRCh37	X	134428042	134428042	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000370766.3:c.25G>A	p.Asp9Asn	p.D9N	ENST00000370766	NM_007131.3	9	Gat/Aat	0																																																																																																																																																																																																																																												
ZNF76	7629	broad.mit.edu	GRCh37	6	35255444	35255444	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0188-01	TCGA-06-0188-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373953.3:c.254T>C	p.Leu85Pro	p.L85P	ENST00000373953	NM_003427.3	85	cTg/cCg	0			1			C	L/P	uc003oki.1	protein_coding	YES	CCDS4801.1			254/1713										0	c.(253-255)CTG>CCG			hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF448	zinc finger protein 76 (expressed in testis)				ENSP00000363064		14-May									COSM3411027	14-May	.		ENST00000373953	Transcript			regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000065029	g.chr6:35255444T>C	13149			MODERATE		1.445	low	getma.org/?cm=msa&ty=f&p=ZNF76_HUMAN&rb=1&re=129&var=L85P	NA	getma.org/?cm=var&var=hg19,6,35255444,T,C&fts=all	L85P	--	--	1																																		ZNF76_uc011dsy.1_Missense_Mutation_p.L85P|ZNF76_uc011dsz.1_Missense_Mutation_p.L85P|ZNF76_uc003okj.1_Missense_Mutation_p.L85P|ZNF76_uc011dsx.1_Missense_Mutation_p.L85P	1	1		benign(0.406)	p.L85P	NM_003427	NP_003418		deleterious(0)	1	ZNF76_HUMAN	ZNF76	HGNC	P36508	ZNF76_HUMAN			E7EX64_HUMAN		5	459	+			UPI000013C41C	85			3 X 12 AA approximate repeats.		SNV	ZNF76,missense_variant,p.Leu85Pro,ENST00000373953,NM_003427.3;ZNF76,missense_variant,p.Leu59Pro,ENST00000440666,;ZNF76,missense_variant,p.Leu85Pro,ENST00000339411,;ZNF76,missense_variant,p.Leu85Pro,ENST00000469195,;ZNF76,missense_variant,p.Leu85Pro,ENST00000229405,;ZNF76,non_coding_transcript_exon_variant,,ENST00000486891,;ZNF76,non_coding_transcript_exon_variant,,ENST00000491400,;ZNF76,non_coding_transcript_exon_variant,,ENST00000460229,;ZNF76,downstream_gene_variant,,ENST00000484932,;ZNF76,upstream_gene_variant,,ENST00000479226,;	uc003oki.1	c.254T>C	520/2716	3	3			c.254T>C						6	SNP	c.(253-255)CTG>CCG	11	11				0	Broad	zinc finger protein 76 (expressed in testis)			35255444		0.577	ENSG00000065029	17866	g.chr6:35255444T>C	regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	Esophageal Squamous(52;92 1039 20612 23956 34676)			Esophageal Squamous(52;92 1039 20612 23956 34676)			-20.879169	KEEP	2	1	-1	67	65	2	1	-1	7.120167	67	65	0.026549	1	0	0	0	0	1	0	0	0	--	--		0	C			ZNF76_uc011dsy.1_Missense_Mutation_p.L85P|ZNF76_uc011dsz.1_Missense_Mutation_p.L85P|ZNF76_uc003okj.1_Missense_Mutation_p.L85P|ZNF76_uc011dsx.1_Missense_Mutation_p.L85P	41	GBM-06-0188-TP	p.L85P	T	CCCAGCACCCTGGAAGCCGTC	NM_003427	NP_003418	35255444	P36508	ZNF76_HUMAN	0			5	459	+	C	C			Missense_Mutation	85			3 X 12 AA approximate repeats.			
ZNF76	0	broad.mit.edu	GRCh37	6	35261624	35261624	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01	TCGA-32-1977-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000373953.3:c.1426G>A	p.Ala476Thr	p.A476T	ENST00000373953	NM_003427.3	476	Gcc/Acc	0			1			A	A/T	uc003oki.1	protein_coding	YES	CCDS4801.1			1426/1713										0	c.(1426-1428)GCC>ACC			hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF448	zinc finger protein 76 (expressed in testis)				ENSP00000363064		14-Dec									COSM3411028	14-Dec	.		ENST00000373953	Transcript			regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000065029	g.chr6:35261624G>A	13149			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=ZNF76_HUMAN&rb=467&re=568&var=A476T	NA	getma.org/?cm=var&var=hg19,6,35261624,G,A&fts=all	A476T	--	--	1																																		ZNF76_uc003okj.1_Intron	1	1		benign(0.013)	p.A476T	NM_003427	NP_003418		tolerated(0.48)	1	ZNF76_HUMAN	ZNF76	HGNC	P36508	ZNF76_HUMAN			E7EX64_HUMAN		12	1631	+			UPI000013C41C	476					SNV	ZNF76,missense_variant,p.Ala476Thr,ENST00000373953,NM_003427.3;ZNF76,missense_variant,p.Ala450Thr,ENST00000440666,;ZNF76,missense_variant,p.Ala9Thr,ENST00000498555,;ZNF76,intron_variant,,ENST00000339411,;DEF6,upstream_gene_variant,,ENST00000316637,NM_022047.3;DEF6,upstream_gene_variant,,ENST00000542066,;ZNF76,downstream_gene_variant,,ENST00000469195,;ZNF76,3_prime_UTR_variant,,ENST00000229405,;ZNF76,non_coding_transcript_exon_variant,,ENST00000479226,;ZNF76,downstream_gene_variant,,ENST00000486891,;	uc003oki.1	c.1426G>A	1692/2716	1	1			c.1426G>A						6	SNP	c.(1426-1428)GCC>ACC	56	56				0	Broad	zinc finger protein 76 (expressed in testis)			35261624		0.627	ENSG00000065029	17866	g.chr6:35261624G>A	regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	Esophageal Squamous(52;92 1039 20612 23956 34676)			Esophageal Squamous(52;92 1039 20612 23956 34676)			44.967782	KEEP	19	14	-1	54	76	19	14	-1	56.683916	54	76	0.19403	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF76_uc003okj.1_Intron	229	GBM-32-1977-TP	p.A476T	G	CAGTCCTGATGCCGACCTGGC	NM_003427	NP_003418	35261624	P36508	ZNF76_HUMAN	0			12	1631	+	A	A			Missense_Mutation	476						
ZNF761	0	broad.mit.edu	GRCh37	19	53959098	53959098	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T			TCGA-76-4931-01	TCGA-76-4931-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000454407.1:n.1790C>T		*597*	ENST00000454407				0			1			T		uc010eqp.2	processed_transcript	YES													ovary(1)	1	c.(1336-1338)ACC>ATC				zinc finger protein 761						5-May									COSM3404544	5-May	.		ENST00000454407	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000160336	g.chr19:53959098C>T	23179			MODIFIER								--	--	1																																		ZNF761_uc010ydy.1_Missense_Mutation_p.T392I|ZNF761_uc002qbt.1_Missense_Mutation_p.T392I	1	1			p.T446I	NM_001008401	NP_001008401			1		ZNF761	HGNC	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)			7	1795	+				446			C2H2-type 9.		SNV	ZNF761,non_coding_transcript_exon_variant,,ENST00000454407,;ZNF761,non_coding_transcript_exon_variant,,ENST00000429310,;ZNF761,non_coding_transcript_exon_variant,,ENST00000334095,;ZNF761,non_coding_transcript_exon_variant,,ENST00000432094,;	uc010eqp.2	c.1337C>T	1790/4206	2	2			c.1337C>T						19	SNP	c.(1336-1338)ACC>ATC	28	28			ovary(1)	1	Broad	zinc finger protein 761			53959098		0.383	ENSG00000160336	17867	g.chr19:53959098C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-30.544068	KEEP	3	1	-1	74	89	3	1	-1	7.47182	74	89	0.026144	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF761_uc010ydy.1_Missense_Mutation_p.T392I|ZNF761_uc002qbt.1_Missense_Mutation_p.T392I	270	GBM-76-4931-TP	p.T446I	C	TGTGGAAAGACCTTTAGCCGG	NM_001008401	NP_001008401	53959098	Q86XN6	ZN761_HUMAN	0		GBM - Glioblastoma multiforme(134;0.00786)	7	1795	+	T	T			Missense_Mutation	446			C2H2-type 9.			
ZNF761	388561		GRCh37	19	53958627	53958627	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000454407.1:n.1319G>A		p.*440*	ENST00000454407				0																																																																																																																																																																																																																																												
ZNF768	79724	broad.mit.edu	GRCh37	16	30535933	30535933	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01	TCGA-06-0124-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380412.5:c.1528G>A	p.Glu510Lys	p.E510K	ENST00000380412	NM_024671.3	510	Gag/Aag	0			1			T	E/K	uc002dyk.3	protein_coding	YES	CCDS10681.2			1528/1623										0	c.(1528-1530)GAG>AAG			PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF208,hmmpanther:PTHR24402,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	zinc finger protein 768				ENSP00000369777		2-Feb									COSM2149268	2-Feb	.		ENST00000380412	Transcript			regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	ENSG00000169957	g.chr16:30535933C>T	26273			MODERATE		1.4	low	getma.org/?cm=msa&ty=f&p=ZN768_HUMAN&rb=479&re=540&var=E510K	getma.org/pdb.php?prot=ZN768_HUMAN&from=499&to=524&var=E510K	getma.org/?cm=var&var=hg19,16,30535933,C,T&fts=all	E510K	--	--	1																																		ZNF768_uc010vex.1_Missense_Mutation_p.E479K|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.E479K	1	1		probably_damaging(0.996)	p.E510K	NM_024671	NP_078947		deleterious_low_confidence(0)	1	ZN768_HUMAN	ZNF768	HGNC	Q9H5H4	ZN768_HUMAN			H3BS42_HUMAN		2	1704	-			UPI00001FFEED	510					SNV	ZNF768,missense_variant,p.Glu510Lys,ENST00000380412,NM_024671.3;ZNF768,missense_variant,p.Glu479Lys,ENST00000562803,;ITGAL,downstream_gene_variant,,ENST00000356798,NM_002209.2;ITGAL,downstream_gene_variant,,ENST00000358164,NM_001114380.1;ZNF747,downstream_gene_variant,,ENST00000535210,;ITGAL,downstream_gene_variant,,ENST00000433423,;ZNF747,downstream_gene_variant,,ENST00000569360,;ITGAL,downstream_gene_variant,,ENST00000564632,;	uc002dyk.3	c.1528G>A	1704/2312	2	2			c.1528G>A						16	SNP	c.(1528-1530)GAG>AAG	35	35				0	Broad	zinc finger protein 768			30535933		0.701	ENSG00000169957	17872	g.chr16:30535933C>T	regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding							36.097796	KEEP	4	11	-1	30	28	4	11	-1	40.787471	30	28	0.223881	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF768_uc010vex.1_Missense_Mutation_p.E479K|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.E479K	11	GBM-06-0124-TP	p.E510K	C	TAAGGCCGCTCGCCACTGTGG	NM_024671	NP_078947	30535933	Q9H5H4	ZN768_HUMAN	0			2	1704	-	T	T			Missense_Mutation	510						
ZNF768	0	broad.mit.edu	GRCh37	16	30535896	30535897	+	missense_variant	Missense_Mutation	DNP	AA	AA	GC			TCGA-28-6450-01	TCGA-28-6450-01	AA	AA							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000380412.5:c.1564_1565delTTinsGC	p.Phe522Ala	p.F522A	ENST00000380412	NM_024671.3	522	TTc/GCc	0			1			GC	F/A	uc002dyk.3	protein_coding	YES	CCDS10681.2			1564-1565/1623										0	c.(1564-1566)TTC>GCC			PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF208,hmmpanther:PTHR24402,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 768				ENSP00000369777		2-Feb										2-Feb	.		ENST00000380412	Transcript			regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	ENSG00000169957	g.chr16:30535896_30535897AA>GC	26273			MODERATE								--	--	1																																		ZNF768_uc010vex.1_Missense_Mutation_p.F491A|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.F491A		1		probably_damaging(0.999)	p.F522A	NM_024671	NP_078947		deleterious_low_confidence(0)		ZN768_HUMAN	ZNF768	HGNC	Q9H5H4	ZN768_HUMAN			H3BS42_HUMAN		2	1740_1741	-			UPI00001FFEED	522			C2H2-type 10.		substitution	ZNF768,missense_variant,p.Phe522Ala,ENST00000380412,NM_024671.3;ZNF768,missense_variant,p.Phe491Ala,ENST00000562803,;ITGAL,downstream_gene_variant,,ENST00000356798,NM_002209.2;ITGAL,downstream_gene_variant,,ENST00000358164,NM_001114380.1;ZNF747,downstream_gene_variant,,ENST00000535210,;ITGAL,downstream_gene_variant,,ENST00000433423,;ZNF747,downstream_gene_variant,,ENST00000569360,;ITGAL,downstream_gene_variant,,ENST00000564632,;	uc002dyk.3	c.1564_1565TT>GC	1740-1741/2312	4	4			c.1564_1565TT>GC						16	DNP	c.(1564-1566)TTC>GCC	25	25				0	Broad	zinc finger protein 768			30535897		0.678	ENSG00000169957	17872	g.chr16:30535896_30535897AA>GC	regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding							31.804737	KEEP	0	0	-1	0	0	0	0	-1	35.029575	0	0	0.229167	1	0	0	0	0	1	0	0	0	--	--		0	GC			ZNF768_uc010vex.1_Missense_Mutation_p.F491A|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.F491A	227	GBM-28-6450-TP	p.F522A	AA	GCTCTGGGAGAAGGCCTTTCCG	NM_024671	NP_078947	30535896	Q9H5H4	ZN768_HUMAN	0			2	1740_1741	-	GC	GC			Missense_Mutation	522			C2H2-type 10.			
ZNF77	58492	broad.mit.edu	GRCh37	19	2933851	2933851	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-2562-01	TCGA-06-2562-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314531.4:c.1274T>C	p.Ile425Thr	p.I425T	ENST00000314531	NM_021217.2	425	aTc/aCc	0			1			G	I/T	uc002lws.3	protein_coding	YES	CCDS12099.1			1274/1638									ovary(1)	1	c.(1273-1275)ATC>ACC			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF51,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 77				ENSP00000319053		4-Apr									COSM3404072	4-Apr	.		ENST00000314531	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding	ENSG00000175691	g.chr19:2933851A>G	13150			MODERATE		0.435	neutral	getma.org/?cm=msa&ty=f&p=ZNF77_HUMAN&rb=402&re=467&var=I425T	getma.org/pdb.php?prot=ZNF77_HUMAN&from=422&to=447&var=I425T	getma.org/?cm=var&var=hg19,19,2933851,A,G&fts=all	I425T	--	--	1																																			1	1		benign(0.415)	p.I425T	NM_021217	NP_067040		tolerated(0.57)	1	ZNF77_HUMAN	ZNF77	HGNC	Q15935	ZNF77_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)			4	1405	-			UPI0000160564	425			C2H2-type 8.		SNV	ZNF77,missense_variant,p.Ile425Thr,ENST00000314531,NM_021217.2;	uc002lws.3	c.1274T>C	1367/2002	4	4			c.1274T>C						19	SNP	c.(1273-1275)ATC>ACC	17	17			ovary(1)	1	Broad	zinc finger protein 77			2933851		0.502	ENSG00000175691	17873	g.chr19:2933851A>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding							-37.418747	KEEP	1	2	-1	82	98	1	2	-1	6.599082	82	98	0.017857	1	0	0	0	0	1	0	0	0	--	--		0	G				85	GBM-06-2562-TP	p.I425T	A	CCTCACGTGGATTCGAAGGGA	NM_021217	NP_067040	2933851	Q15935	ZNF77_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1405	-	G	G			Missense_Mutation	425			C2H2-type 8.			
ZNF77	58492	broad.mit.edu	GRCh37	19	2933838	2933838	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-2564-01	TCGA-06-2564-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000314531.4:c.1287G>A	p.Thr429=	p.T429=	ENST00000314531	NM_021217.2	429	acG/acA	0		T:0.0008	1	T:0.0029		T	T	uc002lws.3	protein_coding	YES	CCDS12099.1			1287/1638									ovary(1)	1	c.(1285-1287)ACG>ACA			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF51,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 77		T:0		ENSP00000319053	T:0	4-Apr	9.88E-05	9.61E-05	0.000259			0.000105	0.00111		rs201521069,COSM3404071	4-Apr	.		ENST00000314531	Transcript		T:0.0006	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding	ENSG00000175691	g.chr19:2933838C>T	13150			LOW								--	--	1																																			0,1	1			p.T429T	NM_021217	NP_067040	T:0		0,1	ZNF77_HUMAN	ZNF77	HGNC	Q15935	ZNF77_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)			4	1418	-			UPI0000160564	429			C2H2-type 8.		SNV	ZNF77,synonymous_variant,p.=,ENST00000314531,NM_021217.2;	uc002lws.3	c.1287G>A	1380/2002	2	2			c.1287G>A						19	SNP	c.(1285-1287)ACG>ACA	29	29			ovary(1)	1	Broad	zinc finger protein 77			2933838		0.512	ENSG00000175691	17873	g.chr19:2933838C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding							-28.529539	KEEP	0	5	-1	78	71	0	5	-1	6.884173	78	71	0.027778	1	0	0	0	0	0	0	1	0	--	--		0	T				87	GBM-06-2564-TP	p.T429T	C	CTCCAGTATGCGTCCTCACGT	NM_021217	NP_067040	2933838	Q15935	ZNF77_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1418	-	T	T			Silent	429			C2H2-type 8.			
ZNF770	0	broad.mit.edu	GRCh37	15	35274803	35274803	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-14-3476-01	TCGA-14-3476-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356321.4:c.833C>G	p.Ser278Cys	p.S278C	ENST00000356321	NM_014106.3	278	tCt/tGt	0			1			C	S/C	uc001ziw.2	protein_coding	YES	CCDS10042.1			833/2076									ovary(1)	1	c.(832-834)TCT>TGT			Low_complexity_(Seg):seg,hmmpanther:PTHR10032:SF208,hmmpanther:PTHR10032	zinc finger protein 770				ENSP00000348673		3-Mar									COSM3401690	3-Mar	.		ENST00000356321	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000198146	g.chr15:35274803G>C	26061			MODERATE		0.55	neutral	getma.org/?cm=msa&ty=f&p=ZN770_HUMAN&rb=227&re=292&var=S278C	NA	getma.org/?cm=var&var=hg19,15,35274803,G,C&fts=all	S278C	--	--	1																																			1	1		possibly_damaging(0.838)	p.S278C	NM_014106	NP_054825		deleterious(0.01)	1	ZN770_HUMAN	ZNF770	HGNC	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	H0YM59_HUMAN		3	1144	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	UPI00001D776B	278					SNV	ZNF770,missense_variant,p.Ser278Cys,ENST00000356321,NM_014106.3;AC114546.1,downstream_gene_variant,,ENST00000391457,;ZNF770,downstream_gene_variant,,ENST00000559564,;	uc001ziw.2	c.833C>G	1178/5439	3	3			c.833C>G						15	SNP	c.(832-834)TCT>TGT	62	62			ovary(1)	1	Broad	zinc finger protein 770			35274803		0.388	ENSG00000198146	17874	g.chr15:35274803G>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							87.291452	KEEP	10	14	-1	19	24	10	14	-1	87.601418	19	24	0.421053	1	0	0	0	0	1	0	0	0	--	--		0	C				151	GBM-14-3476-TP	p.S278C	G	ATTCTCCTCAGATTCACCAAT	NM_014106	NP_054825	35274803	Q6IQ21	ZN770_HUMAN	0		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	3	1144	-	C	C		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	Missense_Mutation	278						
ZNF773	374928	broad.mit.edu	GRCh37	19	58018486	58018486	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0157-01	TCGA-06-0157-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282292.4:c.1023C>T	p.Ser341=	p.S341=	ENST00000282292	NM_198542.1	341	agC/agT	0			1			T	S	uc002qox.2	protein_coding	YES	CCDS33134.1			1023/1329									ovary(1)	1	c.(1021-1023)AGC>AGT			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF40,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 773				ENSP00000282292		4-Apr									COSM3404710	4-Apr	.		ENST00000282292	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000152439	g.chr19:58018486C>T	30487			LOW								--	--	1																																		ZNF547_uc002qpm.3_Intron|ZNF773_uc002qoy.2_Silent_p.S340S|ZNF773_uc002qoz.2_Intron	1	1			p.S341S	NM_198542	NP_940944			1	ZN773_HUMAN	ZNF773	HGNC	Q6PK81	ZN773_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)			4	1163	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	UPI00001BD93D	341			C2H2-type 6.		SNV	ZNF773,synonymous_variant,p.=,ENST00000282292,NM_198542.1;ZNF773,synonymous_variant,p.=,ENST00000598770,;ZNF773,intron_variant,,ENST00000599847,;ZNF773,intron_variant,,ENST00000593916,;ZNF773,intron_variant,,ENST00000597061,;AC003005.4,downstream_gene_variant,,ENST00000601674,;AC003005.4,downstream_gene_variant,,ENST00000599674,;ZNF773,downstream_gene_variant,,ENST00000601958,;	uc002qox.2	c.1023C>T	1163/2206	2	2			c.1023C>T						19	SNP	c.(1021-1023)AGC>AGT	47	47			ovary(1)	1	Broad	zinc finger protein 773			58018486		0.418	ENSG00000152439	17876	g.chr19:58018486C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-45.562245	KEEP	4	3	-1	126	134	4	3	-1	10.452357	126	134	0.026549	1	0	0	0	0	0	0	1	0	--	--		0	T			ZNF547_uc002qpm.3_Intron|ZNF773_uc002qoy.2_Silent_p.S340S|ZNF773_uc002qoz.2_Intron	28	GBM-06-0157-TP	p.S341S	C	AATTCTATAGCCACAAGTCCA	NM_198542	NP_940944	58018486	Q6PK81	ZN773_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)	4	1163	+	T	T		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	Silent	341			C2H2-type 6.			
ZNF776	0	broad.mit.edu	GRCh37	19	58265771	58265771	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-16-0846-01	TCGA-16-0846-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000317178.5:c.1273G>T	p.Val425Phe	p.V425F	ENST00000317178	NM_173632.3	425	Gtt/Ttt	0			1			T	V/F	uc002qpx.2	protein_coding	YES	CCDS12962.2			1273/1557									ovary(1)	1	c.(1273-1275)GTT>TTT			PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF21,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 776				ENSP00000321812		3-Mar									COSM3404714,COSM3404713	3-Mar	.		ENST00000317178	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000152443	g.chr19:58265771G>T	26765			MODERATE		1.78	low	getma.org/?cm=msa&ty=f&p=ZN776_HUMAN&rb=398&re=463&var=V425F	getma.org/pdb.php?prot=ZN776_HUMAN&from=418&to=443&var=V425F	getma.org/?cm=var&var=hg19,19,58265771,G,T&fts=all	V425F	--	--	1																																		ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Missense_Mutation_p.V425F	1,1	1		probably_damaging(0.972)	p.V425F	NM_173632	NP_775903		deleterious(0)	1,1	ZN776_HUMAN	ZNF776	HGNC	Q68DI1	ZN776_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)	B2RN90_HUMAN		3	1496	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	UPI000022AA12	425			C2H2-type 8.		SNV	ZNF776,missense_variant,p.Val425Phe,ENST00000317178,NM_173632.3;ZNF776,intron_variant,,ENST00000451849,;AC003006.7,downstream_gene_variant,,ENST00000594684,;ZNF776,downstream_gene_variant,,ENST00000431353,;ZNF776,non_coding_transcript_exon_variant,,ENST00000489376,;ZNF776,downstream_gene_variant,,ENST00000473585,;	uc002qpx.2	c.1273G>T	1536/5292	2	2			c.1273G>T						19	SNP	c.(1273-1275)GTT>TTT	46	46			ovary(1)	1	Broad	zinc finger protein 776			58265771		0.428	ENSG00000152443	17879	g.chr19:58265771G>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-6.642635	KEEP	3	6	0.333333333	60	77	3	6	0.333333333	20.182045	60	77	0.065693	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Missense_Mutation_p.V425F	155	GBM-16-0846-TP	p.V425F	G	ACACCAGAGAGTTCACACTGG	NM_173632	NP_775903	58265771	Q68DI1	ZN776_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)	3	1496	+	T	T		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	Missense_Mutation	425			C2H2-type 8.			
ZNF780B	0	broad.mit.edu	GRCh37	19	40541725	40541725	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-14-1034-01	TCGA-14-1034-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000434248.1:c.1041G>C	p.Lys347Asn	p.K347N	ENST00000434248	NM_001005851.2	347	aaG/aaC	0			1			G	K/N	uc002omu.2	protein_coding	YES	CCDS46077.1			1041/2502									ovary(1)|pancreas(1)	2	c.(1039-1041)AAG>AAC			Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF203,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 780B				ENSP00000391641		5-May									COSM3404233,COSM3404234	5-May	.		ENST00000434248	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000128000	g.chr19:40541725C>G	33109			MODERATE		-0.87	neutral	getma.org/?cm=msa&ty=f&p=Z780B_HUMAN&rb=327&re=391&var=K347N	getma.org/pdb.php?prot=Z780B_HUMAN&from=347&to=371&var=K347N	getma.org/?cm=var&var=hg19,19,40541725,C,G&fts=all	K347N	--	--	1																																		ZNF780B_uc002omv.2_Missense_Mutation_p.K199N	1,1	1		benign(0.066)	p.K347N	NM_001005851	NP_001005851		tolerated(0.58)	1,1	Z780B_HUMAN	ZNF780B	HGNC	Q9Y6R6	Z780B_HUMAN			M0R0W9_HUMAN,C9JTJ1_HUMAN		5	1106	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		UPI000007137F	347			C2H2-type 7.		SNV	ZNF780B,missense_variant,p.Lys347Asn,ENST00000434248,NM_001005851.2;ZNF780B,missense_variant,p.Lys199Asn,ENST00000221355,;ZNF780B,downstream_gene_variant,,ENST00000598845,;ZNF780B,downstream_gene_variant,,ENST00000595995,;	uc002omu.2	c.1041G>C	1107/8665	4	4			c.1041G>C						19	SNP	c.(1039-1041)AAG>AAC	29	29			ovary(1)|pancreas(1)	2	Broad	zinc finger protein 780B			40541725		0.423	ENSG00000128000	17883	g.chr19:40541725C>G	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							151.653546	KEEP	30	19	-1	44	48	30	19	-1	154.592219	44	48	0.345324	1	0	0	0	0	1	0	0	0	--	--		0	G			ZNF780B_uc002omv.2_Missense_Mutation_p.K199N	142	GBM-14-1034-TP	p.K347N	C	GTCGAACAAGCTTTGTCAGAA	NM_001005851	NP_001005851	40541725	Q9Y6R6	Z780B_HUMAN	0			5	1106	-	G	G	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		Missense_Mutation	347			C2H2-type 7.			
ZNF782	0	broad.mit.edu	GRCh37	9	99581330	99581330	+	synonymous_variant	Silent	SNP	G	G	C			TCGA-32-1980-01	TCGA-32-1980-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000481138.1:c.975C>G	p.Leu325=	p.L325=	ENST00000481138	NM_001001662.1	325	ctC/ctG	0			1			C	L	uc004awp.1	protein_coding	YES	CCDS35075.1			975/2100										0	c.(973-975)CTC>CTG			Gene3D:3.30.160.60,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF111,Superfamily_domains:SSF57667	zinc finger protein 782				ENSP00000419397		6-Jun									COSM3413863	6-Jun	.		ENST00000481138	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000196597	g.chr9:99581330G>C	33110			LOW								--	--	1																																		ZNF782_uc011lup.1_Silent_p.L193L	1	1			p.L325L	NM_001001662	NP_001001662			1	ZN782_HUMAN	ZNF782	HGNC	Q6ZMW2	ZN782_HUMAN			G3V1K9_HUMAN,C9J9Y8_HUMAN		6	1256	-		Acute lymphoblastic leukemia(62;0.0527)	UPI00001D76E3	325			C2H2-type 2; degenerate.		SNV	ZNF782,synonymous_variant,p.=,ENST00000481138,NM_001001662.1;ZNF782,synonymous_variant,p.=,ENST00000289032,;ZNF782,synonymous_variant,p.=,ENST00000535338,;ZNF782,downstream_gene_variant,,ENST00000478850,;ZNF782,downstream_gene_variant,,ENST00000466833,;	uc004awp.1	c.975C>G	1637/4213	3	3			c.975C>G						9	SNP	c.(973-975)CTC>CTG	9	9				0	Broad	zinc finger protein 782			99581330		0.398	ENSG00000196597	17885	g.chr9:99581330G>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							15.779641	KEEP	6	7	-1	38	48	6	7	-1	29.239444	38	48	0.111111	1	0	0	0	0	0	0	1	0	--	--		0	C			ZNF782_uc011lup.1_Silent_p.L193L	231	GBM-32-1980-TP	p.L325L	G	GATGCACTGGGAGGGTTGAAT	NM_001001662	NP_001001662	99581330	Q6ZMW2	ZN782_HUMAN	0			6	1256	-	C	C		Acute lymphoblastic leukemia(62;0.0527)	Silent	325			C2H2-type 2; degenerate.			
ZNF786	0	broad.mit.edu	GRCh37	7	148768162	148768162	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-2519-01	TCGA-27-2519-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000491431.1:c.1702G>A	p.Gly568Arg	p.G568R	ENST00000491431	NM_152411.3	568	Ggg/Agg	0			1			T	G/R	uc003wfh.2	protein_coding	YES	CCDS47738.1			1702/2349									breast(3)|skin(1)	4	c.(1702-1704)GGG>AGG			PROSITE_profiles:PS50157,hmmpanther:PTHR24385:SF15,hmmpanther:PTHR24385,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 786				ENSP00000417470		4-Apr	8.24E-06					1.56E-05			rs747902874,COSM3411772	4-Apr	.		ENST00000491431	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000197362	g.chr7:148768162C>T	21806			MODERATE		0.18	neutral	getma.org/?cm=msa&ty=f&p=ZN786_HUMAN&rb=548&re=578&var=G568R	getma.org/pdb.php?prot=ZN786_HUMAN&from=548&to=578&var=G568R	getma.org/?cm=var&var=hg19,7,148768162,C,T&fts=all	G568R	--	--	1																																		ZNF786_uc011kuk.1_Missense_Mutation_p.G531R|ZNF786_uc003wfi.2_Missense_Mutation_p.G482R	0,1	1		benign(0.062)	p.G568R	NM_152411	NP_689624		tolerated(0.22)	0,1	ZN786_HUMAN	ZNF786	HGNC	Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		H7BXP3_HUMAN,B4DMI1_HUMAN		4	1839	-	Melanoma(164;0.15)		UPI000013FD40	568			C2H2-type 10.		SNV	ZNF786,missense_variant,p.Gly482Arg,ENST00000316286,;ZNF786,missense_variant,p.Gly531Arg,ENST00000451334,;ZNF786,missense_variant,p.Gly568Arg,ENST00000491431,NM_152411.3;	uc003wfh.2	c.1702G>A	1767/2874	1	1			c.1702G>A						7	SNP	c.(1702-1704)GGG>AGG	4	4			breast(3)|skin(1)	4	Broad	zinc finger protein 786			148768162		0.632	ENSG00000197362	17888	g.chr7:148768162C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							44.315639	KEEP	7	10	-1	17	14	7	10	-1	44.86412	17	14	0.375	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF786_uc011kuk.1_Missense_Mutation_p.G531R|ZNF786_uc003wfi.2_Missense_Mutation_p.G482R	199	GBM-27-2519-TP	p.G568R	C	CCACACTCCCCGCACGAGAAC	NM_152411	NP_689624	148768162	Q8N393	ZN786_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	1839	-	T	T	Melanoma(164;0.15)		Missense_Mutation	568			C2H2-type 10.			
ZNF786	0	broad.mit.edu	GRCh37	7	148769373	148769373	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01	TCGA-28-2513-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000491431.1:c.491G>A	p.Gly164Glu	p.G164E	ENST00000491431	NM_152411.3	164	gGa/gAa	0			1			T	G/E	uc003wfh.2	protein_coding	YES	CCDS47738.1			491/2349									breast(3)|skin(1)	4	c.(490-492)GGA>GAA			hmmpanther:PTHR24385:SF15,hmmpanther:PTHR24385	zinc finger protein 786				ENSP00000417470		4-Apr	4.14E-05					1.56E-05		0.000255	rs770360357,COSM3411773	4-Apr	.		ENST00000491431	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000197362	g.chr7:148769373C>T	21806			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=ZN786_HUMAN&rb=50&re=239&var=G164E	NA	getma.org/?cm=var&var=hg19,7,148769373,C,T&fts=all	G164E	--	--	1																																		ZNF786_uc011kuk.1_Missense_Mutation_p.G127E|ZNF786_uc003wfi.2_Missense_Mutation_p.G78E	0,1	1		benign(0.01)	p.G164E	NM_152411	NP_689624		tolerated(1)	0,1	ZN786_HUMAN	ZNF786	HGNC	Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		H7BXP3_HUMAN,B4DMI1_HUMAN		4	628	-	Melanoma(164;0.15)		UPI000013FD40	164					SNV	ZNF786,missense_variant,p.Gly78Glu,ENST00000316286,;ZNF786,missense_variant,p.Gly127Glu,ENST00000451334,;ZNF786,missense_variant,p.Gly164Glu,ENST00000491431,NM_152411.3;	uc003wfh.2	c.491G>A	556/2874	1	1			c.491G>A						7	SNP	c.(490-492)GGA>GAA	6	6			breast(3)|skin(1)	4	Broad	zinc finger protein 786			148769373		0.617	ENSG00000197362	17888	g.chr7:148769373C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							4.955788	KEEP	3	5	-1	24	29	3	5	-1	12.424131	24	29	0.104167	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF786_uc011kuk.1_Missense_Mutation_p.G127E|ZNF786_uc003wfi.2_Missense_Mutation_p.G78E	213	GBM-28-2513-TP	p.G164E	C	ACCTGGGATTCCTTCTTTTAG	NM_152411	NP_689624	148769373	Q8N393	ZN786_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	628	-	T	T	Melanoma(164;0.15)		Missense_Mutation	164						
ZNF787	0	broad.mit.edu	GRCh37	19	56614551	56614551	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-28-2513-01	TCGA-28-2513-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000270459.3:c.36G>A	p.Pro12=	p.P12=	ENST00000270459	NM_001002836.2	12	ccG/ccA	0			1			T	P	uc010eth.1	protein_coding	YES	CCDS42634.1			36/1152									pancreas(1)	1	c.(34-36)CCG>CCA			hmmpanther:PTHR24408,hmmpanther:PTHR24408:SF1	zinc finger protein 787				ENSP00000270459		3-Feb									COSM3404673	3-Feb	.		ENST00000270459	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000142409	g.chr19:56614551C>T	26998			LOW								--	--	1																																		ZNF787_uc002qml.1_Silent_p.P12P	1	1			p.P12P	NM_001002836	NP_001002836			1	ZN787_HUMAN	ZNF787	HGNC	Q6DD87	ZN787_HUMAN		GBM - Glioblastoma multiforme(193;0.0559)	M0R0X7_HUMAN		2	155	-		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	UPI00001C2014	12					SNV	ZNF787,synonymous_variant,p.=,ENST00000270459,NM_001002836.2;ZNF787,synonymous_variant,p.=,ENST00000587279,;ZNF787,synonymous_variant,p.=,ENST00000586787,;Y_RNA,upstream_gene_variant,,ENST00000411128,;	uc010eth.1	c.36G>A	155/1928	2	2			c.36G>A						19	SNP	c.(34-36)CCG>CCA	18	18			pancreas(1)	1	Broad	zinc finger protein 787			56614551		0.632	ENSG00000142409	17889	g.chr19:56614551C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							2.20231	KEEP	3	4	-1	38	29	3	4	-1	13.854507	38	29	0.088235	1	0	0	0	0	0	0	1	0	--	--		0	T			ZNF787_uc002qml.1_Silent_p.P12P	213	GBM-28-2513-TP	p.P12P	C	CAGAATCCAGCGGCCCCGGAG	NM_001002836	NP_001002836	56614551	Q6DD87	ZN787_HUMAN	0		GBM - Glioblastoma multiforme(193;0.0559)	2	155	-	T	T		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	Silent	12						
ZNF79	0	broad.mit.edu	GRCh37	9	130206381	130206381	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-27-1830-01	TCGA-27-1830-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000342483.5:c.402G>C	p.Glu134Asp	p.E134D	ENST00000342483	NM_007135.2	134	gaG/gaC	0			1			C	E/D	uc004bqw.3	protein_coding	YES	CCDS6871.1			402/1497									central_nervous_system(1)	1	c.(400-402)GAG>GAC			hmmpanther:PTHR24387:SF197,hmmpanther:PTHR24387	zinc finger protein 79				ENSP00000362446		5-May									COSM3413340	5-May	.		ENST00000342483	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000196152	g.chr9:130206381G>C	13153			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=ZNF79_HUMAN&rb=1&re=200&var=E134D	NA	getma.org/?cm=var&var=hg19,9,130206381,G,C&fts=all	E134D	--	--	1																																		ZNF79_uc011maf.1_Missense_Mutation_p.E110D|ZNF79_uc011mag.1_Missense_Mutation_p.E110D	1	1		benign(0.001)	p.E134D	NM_007135	NP_009066		tolerated(0.1)	1	ZNF79_HUMAN	ZNF79	HGNC	Q15937	ZNF79_HUMAN			F5H032_HUMAN		5	816	+			UPI0000367683	134					SNV	ZNF79,missense_variant,p.Glu134Asp,ENST00000342483,NM_007135.2;ZNF79,missense_variant,p.Glu110Asp,ENST00000543471,NM_001286697.1,NM_001286696.1;RPL12,downstream_gene_variant,,ENST00000361436,NM_000976.3;RPL12,downstream_gene_variant,,ENST00000536368,;SNORA65,downstream_gene_variant,,ENST00000364432,NR_002449.2;RPL12,downstream_gene_variant,,ENST00000497322,;RPL12,downstream_gene_variant,,ENST00000497825,;	uc004bqw.3	c.402G>C	808/2078	3	3			c.402G>C						9	SNP	c.(400-402)GAG>GAC	5	5			central_nervous_system(1)	1	Broad	zinc finger protein 79			130206381		0.502	ENSG00000196152	17891	g.chr9:130206381G>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-31.191054	KEEP	5	4	-1	106	113	5	4	-1	18.680367	106	113	0.037209	1	0	0	0	0	1	0	0	0	--	--		0	C			ZNF79_uc011maf.1_Missense_Mutation_p.E110D|ZNF79_uc011mag.1_Missense_Mutation_p.E110D	189	GBM-27-1830-TP	p.E134D	G	CATGTGTAGAGATGCCCCCTG	NM_007135	NP_009066	130206381	Q15937	ZNF79_HUMAN	0			5	816	+	C	C			Missense_Mutation	134						
ZNF79	7633		GRCh37	9	130207274	130207274	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000342483.5:c.1295T>C	p.Leu432Pro	p.L432P	ENST00000342483	NM_007135.2	432	cTc/cCc	0																																																																																																																																																																																																																																												
ZNF790	388536	broad.mit.edu	GRCh37	19	37310870	37310870	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0129-01	TCGA-06-0129-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000356725.4:c.376C>T	p.Gln126Ter	p.Q126*	ENST00000356725	NM_206894.3	126	Cag/Tag	0			1			A	Q/*	uc002oew.2	protein_coding	YES	CCDS12496.1			376/1911									upper_aerodigestive_tract(1)|skin(1)	2	c.(376-378)CAG>TAG			hmmpanther:PTHR24377:SF224,hmmpanther:PTHR24377	zinc finger protein 790				ENSP00000349161		5-May									COSM2149516	5-May	.		ENST00000356725	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000197863	g.chr19:37310870G>A	33114			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,19,37310870,G,A&fts=all	Q126*	--	--	1																																		uc002oev.1_Intron	1	1			p.Q126*	NM_206894	NP_996777			1	ZN790_HUMAN	ZNF790	HGNC	Q6PG37	ZN790_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		K7EQ58_HUMAN,E9PRR6_HUMAN,E9PQ03_HUMAN,E9PL27_HUMAN		5	495	-	Esophageal squamous(110;0.183)		UPI0000160EF0	126					SNV	ZNF790,stop_gained,p.Gln126Ter,ENST00000356725,NM_206894.3,NM_001242802.1;ZNF790,stop_gained,p.Gln126Ter,ENST00000528994,NM_001242801.1;ZNF790,stop_gained,p.Gln126Ter,ENST00000586323,NM_001242800.1;ZNF790,stop_gained,p.Gln126Ter,ENST00000525288,;ZNF790,downstream_gene_variant,,ENST00000527645,;CTD-2162K18.5,intron_variant,,ENST00000588906,;CTD-2162K18.5,intron_variant,,ENST00000587278,;	uc002oew.2	c.376C>T	497/3037	5	1			c.376C>T						19	SNP	c.(376-378)CAG>TAG	58	58			upper_aerodigestive_tract(1)|skin(1)	2	Broad	zinc finger protein 790			37310870		0.383	ENSG00000197863	17892	g.chr19:37310870G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							339.720251	KEEP	55	69	-1	93	74	55	69	-1	341.222223	93	74	0.420074	1	0	0	0	0	0	1	0	0	--	--		0	A			uc002oev.1_Intron	15	GBM-06-0129-TP	p.Q126*	G	GTTTGAAACTGAGTGTTGCCT	NM_206894	NP_996777	37310870	Q6PG37	ZN790_HUMAN	0	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		5	495	-	A	A	Esophageal squamous(110;0.183)		Nonsense_Mutation	126						
ZNF792	0	broad.mit.edu	GRCh37	19	35449589	35449589	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-28-5207-01	TCGA-28-5207-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000404801.1:c.1170C>T	p.Gly390=	p.G390=	ENST00000404801	NM_175872.4	390	ggC/ggT	0			1			A	G	uc002nxh.1	protein_coding	YES	CCDS12440.2			1170/1899										0	c.(1168-1170)GGC>GGT			PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF187,Gene3D:3.30.160.60,Superfamily_domains:SSF57667	zinc finger protein 792				ENSP00000385099		4-Apr									COSM3404103,COSM3404102	4-Apr	.		ENST00000404801	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000180884	g.chr19:35449589G>A	24751			LOW								--	--	1																																			1,1	1			p.G390G	NM_175872	NP_787068			1,1	ZN792_HUMAN	ZNF792	HGNC	Q3KQV3	ZN792_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		S4R3B8_HUMAN		4	1557	-	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		UPI0000202090	390					SNV	ZNF792,synonymous_variant,p.=,ENST00000404801,NM_175872.4;ZNF792,synonymous_variant,p.=,ENST00000605484,;	uc002nxh.1	c.1170C>T	1557/3888	1	1			c.1170C>T						19	SNP	c.(1168-1170)GGC>GGT	61	61				0	Broad	zinc finger protein 792			35449589		0.468	ENSG00000180884	17894	g.chr19:35449589G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	GBM(1;7 183 21053 22581 22847)			GBM(1;7 183 21053 22581 22847)			46.558457	KEEP	11	11	-1	39	23	11	11	-1	50.758972	39	23	0.25641	1	0	0	0	0	0	0	1	0	--	--		0	A				216	GBM-28-5207-TP	p.G390G	G	GGGCACTTCTGCCCGTATGAA	NM_175872	NP_787068	35449589	Q3KQV3	ZN792_HUMAN	0	LUSC - Lung squamous cell carcinoma(66;0.0849)		4	1557	-	A	A	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		Silent	390						
ZNF799	0	broad.mit.edu	GRCh37	19	12501446	12501446	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-32-2494-01	TCGA-32-2494-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000430385.3:c.1766A>G	p.Glu589Gly	p.E589G	ENST00000430385	NM_001080821.2	589	gAa/gGa	0		C:0	1	C:0		C	E/G	uc010dyt.2	protein_coding	YES	CCDS45989.1			1766/1932									breast(3)|ovary(2)|skin(1)	6	c.(1765-1767)GAA>GGA			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF16,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 799		C:0		ENSP00000411084	C:0	4-Apr	2.47E-05		8.65E-05					6.06E-05	rs201078380,COSM365132,COSM365131	4-Apr	.		ENST00000430385	Transcript		C:0.0002	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000196466	g.chr19:12501446T>C	28071			MODERATE		1.405	low	getma.org/?cm=msa&ty=f&p=ZN799_HUMAN&rb=555&re=619&var=E589G	getma.org/pdb.php?prot=ZN799_HUMAN&from=575&to=599&var=E589G	getma.org/?cm=var&var=hg19,19,12501446,T,C&fts=all	E589G	--	--	1																																		ZNF799_uc002mts.3_Intron	0,1,1	1		possibly_damaging(0.648)	p.E589G	NM_001080821	NP_001074290	C:0.001	deleterious(0.01)	0,1,1	ZN799_HUMAN	ZNF799	HGNC	Q96GE5	ZN799_HUMAN			M0R135_HUMAN,D3YTF2_HUMAN		4	1916	-			UPI000016184E	589			C2H2-type 17.		SNV	ZNF799,missense_variant,p.Glu557Gly,ENST00000419318,;ZNF799,missense_variant,p.Glu589Gly,ENST00000430385,NM_001080821.2;CTD-3105H18.16,downstream_gene_variant,,ENST00000595562,;ZNF799,downstream_gene_variant,,ENST00000595766,;ZNF799,non_coding_transcript_exon_variant,,ENST00000460935,;CTD-3105H18.14,intron_variant,,ENST00000435033,;	uc010dyt.2	c.1766A>G	1967/2583	3	3			c.1766A>G						19	SNP	c.(1765-1767)GAA>GGA	62	62			breast(3)|ovary(2)|skin(1)	6	Broad	zinc finger protein 799			12501446		0.413	ENSG00000196466	17896	g.chr19:12501446T>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-37.261338	KEEP	1	3	-1	143	163	1	3	-1	9.451933	143	163	0.021858	1	0	0	0	0	1	0	0	0	--	--		0	C			ZNF799_uc002mts.3_Intron	236	GBM-32-2494-TP	p.E589G	T	TTCCTTACATTCATACGGGTT	NM_001080821	NP_001074290	12501446	Q96GE5	ZN799_HUMAN	0			4	1916	-	C	C			Missense_Mutation	589			C2H2-type 17.			
ZNF8	7554		GRCh37	19	58806753	58806753	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01	TCGA-06-0142-01																				ENST00000196548.5:c.1579G>A	p.Gly527Arg	p.G527R	ENST00000196548		527	Gga/Aga	0																																																																																																																																																																																																																																												
ZNF8	7554		GRCh37	19	58805490	58805490	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6661-01	TCGA-76-6661-01																				ENST00000196548.5:c.316G>A	p.Ala106Thr	p.A106T	ENST00000196548		106	Gca/Aca	0																																																																																																																																																																																																																																												
ZNF804A	0	broad.mit.edu	GRCh37	2	185801478	185801478	+	stop_gained	Nonsense_Mutation	SNP	C	C	G			TCGA-19-2623-01	TCGA-19-2623-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000302277.6:c.1355C>G	p.Ser452Ter	p.S452*	ENST00000302277	NM_194250.1	452	tCa/tGa	0			1			G	S/*	uc002uph.2	protein_coding	YES	CCDS2291.1			1355/3630									ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11	c.(1354-1356)TCA>TGA			hmmpanther:PTHR17614:SF13,hmmpanther:PTHR17614	zinc finger protein 804A				ENSP00000303252		4-Apr									COSM3407393	4-Apr	.		ENST00000302277	Transcript				intracellular	zinc ion binding	ENSG00000170396	g.chr2:185801478C>G	21711			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,2,185801478,C,G&fts=all	S452*	--	--	1																																			1	1			p.S452*	NM_194250	NP_919226			1	Z804A_HUMAN	ZNF804A	HGNC	Q7Z570	Z804A_HUMAN					4	1949	+			UPI00001B4B18	452					SNV	ZNF804A,stop_gained,p.Ser452Ter,ENST00000302277,NM_194250.1;	uc002uph.2	c.1355C>G	1949/4690	5	3			c.1355C>G						2	SNP	c.(1354-1356)TCA>TGA	14	14			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11	Broad	zinc finger protein 804A			185801478		0.333	ENSG00000170396	17900	g.chr2:185801478C>G		intracellular	zinc ion binding							327.737884	KEEP	41	51	-1	96	67	41	51	-1	331.465527	96	67	0.369478	1	0	0	0	0	0	1	0	0	--	--		0	G				163	GBM-19-2623-TP	p.S452*	C	ACGAAACCATCAATTTCCTAT	NM_194250	NP_919226	185801478	Q7Z570	Z804A_HUMAN	0			4	1949	+	G	G			Nonsense_Mutation	452						
ZNF804A	91752		GRCh37	2	185731110	185731110	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000302277.6:c.126G>C	p.Lys42Asn	p.K42N	ENST00000302277	NM_194250.1	42	aaG/aaC	0																																																																																																																																																																																																																																												
ZNF804B	0	broad.mit.edu	GRCh37	7	88966247	88966247	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-27-1830-01	TCGA-27-1830-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333190.4:c.3951A>G	p.Val1317=	p.V1317=	ENST00000333190	NM_181646.2	1317	gtA/gtG	0			1			G	V	uc011khi.1	protein_coding	YES	CCDS5613.1			3951/4050									ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	c.(3949-3951)GTA>GTG			hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF12	zinc finger protein 804B				ENSP00000329638		4-Apr									COSM3412459	4-Apr	.		ENST00000333190	Transcript				intracellular	zinc ion binding	ENSG00000182348	g.chr7:88966247A>G	21958			LOW								--	--	1				HNSCC(36;0.09)																															1	1			p.V1317V	NM_181646	NP_857597			1	Z804B_HUMAN	ZNF804B	HGNC	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)				4	4489	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		UPI00001A92D2	1317					SNV	ZNF804B,synonymous_variant,p.=,ENST00000333190,NM_181646.2;	uc011khi.1	c.3951A>G	4560/4659	3	3			c.3951A>G						7	SNP	c.(3949-3951)GTA>GTG	57	57			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	Broad	zinc finger protein 804B			88966247		0.413	ENSG00000182348	17901	g.chr7:88966247A>G		intracellular	zinc ion binding							-49.932844	KEEP	12	7	-1	211	219	12	7	-1	39.294102	211	219	0.040712	1	0	0	0	0	0	0	1	0	--	--	HNSCC(36;0.09)	0	G				189	GBM-27-1830-TP	p.V1317V	A	TCCAACCAGTATTCCAAGGTC	NM_181646	NP_857597	88966247	A4D1E1	Z804B_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.0513)		4	4489	+	G	G	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		Silent	1317						
ZNF804B	0	broad.mit.edu	GRCh37	7	88965893	88965893	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-32-2638-01	TCGA-32-2638-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000333190.4:c.3597A>G	p.Pro1199=	p.P1199=	ENST00000333190	NM_181646.2	1199	ccA/ccG	0			1			G	P	uc011khi.1	protein_coding	YES	CCDS5613.1			3597/4050									ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	c.(3595-3597)CCA>CCG			hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF12	zinc finger protein 804B				ENSP00000329638		4-Apr									COSM3412458	4-Apr	.		ENST00000333190	Transcript				intracellular	zinc ion binding	ENSG00000182348	g.chr7:88965893A>G	21958			LOW								--	--	1				HNSCC(36;0.09)																															1	1			p.P1199P	NM_181646	NP_857597			1	Z804B_HUMAN	ZNF804B	HGNC	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)				4	4135	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		UPI00001A92D2	1199					SNV	ZNF804B,synonymous_variant,p.=,ENST00000333190,NM_181646.2;	uc011khi.1	c.3597A>G	4206/4659	4	4			c.3597A>G						7	SNP	c.(3595-3597)CCA>CCG	25	25			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	Broad	zinc finger protein 804B			88965893		0.502	ENSG00000182348	17901	g.chr7:88965893A>G		intracellular	zinc ion binding							-26.898879	KEEP	4	3	-1	90	80	4	3	-1	12.432453	90	80	0.035714	1	0	0	0	0	0	0	1	0	--	--	HNSCC(36;0.09)	0	G				242	GBM-32-2638-TP	p.P1199P	A	AGACAGTTCCAGTTCACCAGC	NM_181646	NP_857597	88965893	A4D1E1	Z804B_HUMAN	0	STAD - Stomach adenocarcinoma(171;0.0513)		4	4135	+	G	G	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		Silent	1199						
ZNF81	347344	broad.mit.edu	GRCh37	X	47775654	47775654	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01	TCGA-02-0055-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376954.1:c.1609G>A	p.Asp537Asn	p.D537N	ENST00000376954		537	Gac/Aac	0			1			A	D/N	uc010nhy.1	protein_coding		CCDS43933.1			1609/1986										0	c.(1609-1611)GAC>AAC			Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF5,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 81				ENSP00000341151		5-May	1.65E-05		0.000109						rs782066048,COSM2149030	5-May	.		ENST00000338637	Transcript	1			nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000197779	g.chrX:47775654G>A	13156			MODERATE		0.345	neutral	getma.org/?cm=msa&ty=f&p=ZNF81_HUMAN&rb=492&re=557&var=D537N	getma.org/pdb.php?prot=ZNF81_HUMAN&from=512&to=537&var=D537N	getma.org/?cm=var&var=hg19,X,47775654,G,A&fts=all	D537N	--	--	1																																			0,1			probably_damaging(0.938)	p.D537N	NM_007137	NP_009068		tolerated(0.21)	0,1	ZNF81_HUMAN	ZNF81	HGNC	P51508	ZNF81_HUMAN					6	1977	+		all_lung(315;0.0973)	UPI000023FCDA	537			C2H2-type 8.		SNV	ZNF81,missense_variant,p.Asp537Asn,ENST00000376954,;ZNF81,missense_variant,p.Asp537Asn,ENST00000338637,NM_007137.3;ZNF81,intron_variant,,ENST00000376950,;	uc010nhy.1	c.1609G>A	1858/7859	1	1			c.1609G>A						23	SNP	c.(1609-1611)GAC>AAC	56	56				0	Broad	zinc finger protein 81			47775654		0.443	ENSG00000197779	17903	g.chrX:47775654G>A		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							136.554327	KEEP	25	30	-1	59	84	25	30	-1	143.525216	59	84	0.289773	1	0	0	0	0	1	0	0	0	--	--		0	A				4	GBM-02-0055-TP	p.D537N	G	GGCCTTCACCGACAGGTCAAA	NM_007137	NP_009068	47775654	P51508	ZNF81_HUMAN	0			6	1977	+	A	A		all_lung(315;0.0973)	Missense_Mutation	537			C2H2-type 8.			
ZNF81	347344	broad.mit.edu	GRCh37	X	47775519	47775519	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-06-2570-01	TCGA-06-2570-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000376954.1:c.1474C>A	p.His492Asn	p.H492N	ENST00000376954		492	Cat/Aat	0			1			A	H/N	uc010nhy.1	protein_coding		CCDS43933.1			1474/1986										0	c.(1474-1476)CAT>AAT			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF5,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 81				ENSP00000341151		5-May									COSM3406398	5-May	.		ENST00000338637	Transcript	1			nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000197779	g.chrX:47775519C>A	13156			MODERATE		3.355	medium	getma.org/?cm=msa&ty=f&p=ZNF81_HUMAN&rb=464&re=529&var=H492N	getma.org/pdb.php?prot=ZNF81_HUMAN&from=484&to=509&var=H492N	getma.org/?cm=var&var=hg19,X,47775519,C,A&fts=all	H492N	--	--	1																																			1			probably_damaging(0.997)	p.H492N	NM_007137	NP_009068		deleterious(0)	1	ZNF81_HUMAN	ZNF81	HGNC	P51508	ZNF81_HUMAN					6	1842	+		all_lung(315;0.0973)	UPI000023FCDA	492			C2H2-type 6.		SNV	ZNF81,missense_variant,p.His492Asn,ENST00000376954,;ZNF81,missense_variant,p.His492Asn,ENST00000338637,NM_007137.3;ZNF81,intron_variant,,ENST00000376950,;	uc010nhy.1	c.1474C>A	1723/7859	1	1			c.1474C>A						23	SNP	c.(1474-1476)CAT>AAT	49	49				0	Broad	zinc finger protein 81			47775519		0.413	ENSG00000197779	17903	g.chrX:47775519C>A		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							33.815343	KEEP	7	10	0.588235294	46	37	7	10	0.588235294	41.973683	46	37	0.188889	1	0	0	0	0	1	0	0	0	--	--		0	A				91	GBM-06-2570-TP	p.H492N	C	TAAGAGAATTCATACAGGAGA	NM_007137	NP_009068	47775519	P51508	ZNF81_HUMAN	0			6	1842	+	A	A		all_lung(315;0.0973)	Missense_Mutation	492			C2H2-type 6.			
ZNF813	126017	broad.mit.edu	GRCh37	19	53994691	53994691	+	missense_variant	Missense_Mutation	SNP	G	G	A	rs140206311	by1000genomes	TCGA-06-0125-01	TCGA-06-0125-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396403.4:c.1205G>A	p.Arg402His	p.R402H	ENST00000396403	NM_001004301.3	402	cGt/cAt	0		A:0	1	A:0		A	R/H	uc002qbu.2	protein_coding	YES	CCDS46172.1			1205/1854									large_intestine(1)	1	c.(1204-1206)CGT>CAT			PROSITE_profiles:PS50157,hmmpanther:PTHR24407:SF12,hmmpanther:PTHR24407,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 813		A:0.001		ENSP00000379684	A:0	4-Apr	0.000107	0.0002	0.000432	0.000578		1.50E-05			rs140206311,COSM3404547	4-Apr	common_variant		ENST00000396403	Transcript		A:0.0002	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000198346	g.chr19:53994691G>A	33257			MODERATE		2	medium	getma.org/?cm=msa&ty=f&p=ZN813_HUMAN&rb=377&re=442&var=R402H	getma.org/pdb.php?prot=ZN813_HUMAN&from=397&to=422&var=R402H	getma.org/?cm=var&var=hg19,19,53994691,G,A&fts=all	R402H	--	--	1																																		ZNF813_uc010eqq.1_Intron	0,1	1		benign(0.009)	p.R402H	NM_001004301	NP_001004301	A:0	tolerated(0.2)	0,1	ZN813_HUMAN	ZNF813	HGNC	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	C9JZ01_HUMAN		4	1333	+			UPI000040C511	402			C2H2-type 7.		SNV	ZNF813,missense_variant,p.Arg402His,ENST00000396403,NM_001004301.3;ZNF813,intron_variant,,ENST00000396421,;ZNF813,downstream_gene_variant,,ENST00000490956,;ZNF813,downstream_gene_variant,,ENST00000468450,;CTD-2224J9.4,upstream_gene_variant,,ENST00000483735,;	uc002qbu.2	c.1205G>A	1333/6151	2	2			c.1205G>A						19	SNP	c.(1204-1206)CGT>CAT	48	48			large_intestine(1)	1	Broad	zinc finger protein 813			53994691		0.408	ENSG00000198346	17904	g.chr19:53994691G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							174.191283	KEEP	38	31	-1	74	88	38	31	-1	182.722571	74	88	0.292793	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF813_uc010eqq.1_Intron	12	GBM-06-0125-TP	p.R402H	G	AAATGCCATCGTAGACTTCAT	NM_001004301	NP_001004301	53994691	Q6ZN06	ZN813_HUMAN	0		GBM - Glioblastoma multiforme(134;0.00619)	4	1333	+	A	A			Missense_Mutation	402			C2H2-type 7.			
ZNF813	126017	broad.mit.edu	GRCh37	19	53994332	53994332	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-0743-01	TCGA-06-0743-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396403.4:c.846G>A	p.Gln282=	p.Q282=	ENST00000396403	NM_001004301.3	282	caG/caA	0			1			A	Q	uc002qbu.2	protein_coding	YES	CCDS46172.1			846/1854									large_intestine(1)	1	c.(844-846)CAG>CAA			PROSITE_profiles:PS50157,hmmpanther:PTHR24407:SF12,hmmpanther:PTHR24407,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 813				ENSP00000379684		4-Apr									COSM3404546	4-Apr	.		ENST00000396403	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000198346	g.chr19:53994332G>A	33257			LOW								--	--	1																																		ZNF813_uc010eqq.1_Intron	1	1			p.Q282Q	NM_001004301	NP_001004301			1	ZN813_HUMAN	ZNF813	HGNC	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	C9JZ01_HUMAN		4	974	+			UPI000040C511	282			C2H2-type 3.		SNV	ZNF813,synonymous_variant,p.=,ENST00000396403,NM_001004301.3;ZNF813,intron_variant,,ENST00000396421,;ZNF813,downstream_gene_variant,,ENST00000490956,;ZNF813,downstream_gene_variant,,ENST00000468450,;CTD-2224J9.4,upstream_gene_variant,,ENST00000483735,;	uc002qbu.2	c.846G>A	974/6151	1	1			c.846G>A						19	SNP	c.(844-846)CAG>CAA	58	58			large_intestine(1)	1	Broad	zinc finger protein 813			53994332		0.418	ENSG00000198346	17904	g.chr19:53994332G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							120.015893	KEEP	30	20	-1	58	76	30	20	-1	128.806918	58	76	0.260355	1	0	0	0	0	0	0	1	0	--	--		0	A			ZNF813_uc010eqq.1_Intron	65	GBM-06-0743-TP	p.Q282Q	G	CTTTCAGTCAGACGTATTCCC	NM_001004301	NP_001004301	53994332	Q6ZN06	ZN813_HUMAN	0		GBM - Glioblastoma multiforme(134;0.00619)	4	974	+	A	A			Silent	282			C2H2-type 3.			
ZNF813	126017	broad.mit.edu	GRCh37	19	53995161	53995161	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0745-01	TCGA-06-0745-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396403.4:c.1675G>A	p.Val559Ile	p.V559I	ENST00000396403	NM_001004301.3	559	Gtt/Att	0			1			A	V/I	uc002qbu.2	protein_coding	YES	CCDS46172.1			1675/1854									large_intestine(1)	1	c.(1675-1677)GTT>ATT			PROSITE_profiles:PS50157,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667	zinc finger protein 813				ENSP00000379684		4-Apr									COSM2151762	4-Apr	.		ENST00000396403	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000198346	g.chr19:53995161G>A	33257			MODERATE		0.66	neutral	getma.org/?cm=msa&ty=f&p=ZN813_HUMAN&rb=517&re=582&var=V559I	getma.org/pdb.php?prot=ZN813_HUMAN&from=537&to=562&var=V559I	getma.org/?cm=var&var=hg19,19,53995161,G,A&fts=all	V559I	--	--	1																																		ZNF813_uc010eqq.1_Intron	1	1		benign(0.055)	p.V559I	NM_001004301	NP_001004301		deleterious(0.02)	1	ZN813_HUMAN	ZNF813	HGNC	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	C9JZ01_HUMAN		4	1803	+			UPI000040C511	559			C2H2-type 13.		SNV	ZNF813,missense_variant,p.Val559Ile,ENST00000396403,NM_001004301.3;ZNF813,intron_variant,,ENST00000396421,;ZNF813,downstream_gene_variant,,ENST00000490956,;ZNF813,downstream_gene_variant,,ENST00000468450,;CTD-2224J9.4,upstream_gene_variant,,ENST00000483735,;	uc002qbu.2	c.1675G>A	1803/6151	2	2			c.1675G>A						19	SNP	c.(1675-1677)GTT>ATT	48	48			large_intestine(1)	1	Broad	zinc finger protein 813			53995161		0.363	ENSG00000198346	17904	g.chr19:53995161G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							96.591607	KEEP	16	14	-1	5	6	16	14	-1	98.415468	5	6	0.725	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF813_uc010eqq.1_Intron	67	GBM-06-0745-TP	p.V559I	G	ATGTGGCAAGGTTTTTAATCA	NM_001004301	NP_001004301	53995161	Q6ZN06	ZN813_HUMAN	0		GBM - Glioblastoma multiforme(134;0.00619)	4	1803	+	A	A			Missense_Mutation	559			C2H2-type 13.			
ZNF813	0	broad.mit.edu	GRCh37	19	53995185	53995185	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-6700-01	TCGA-06-6700-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396403.4:c.1699G>T	p.Ala567Ser	p.A567S	ENST00000396403	NM_001004301.3	567	Gca/Tca	0			1			T	A/S	uc002qbu.2	protein_coding	YES	CCDS46172.1			1699/1854									large_intestine(1)	1	c.(1699-1701)GCA>TCA			PROSITE_profiles:PS50157,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 813				ENSP00000379684		4-Apr									COSM2928849	4-Apr	.		ENST00000396403	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000198346	g.chr19:53995185G>T	33257			MODERATE		-0.805	neutral	getma.org/?cm=msa&ty=f&p=ZN813_HUMAN&rb=545&re=610&var=A567S	getma.org/pdb.php?prot=ZN813_HUMAN&from=565&to=590&var=A567S	getma.org/?cm=var&var=hg19,19,53995185,G,T&fts=all	A567S	--	--	1																																		ZNF813_uc010eqq.1_Intron	1	1		benign(0.081)	p.A567S	NM_001004301	NP_001004301		tolerated(0.37)	1	ZN813_HUMAN	ZNF813	HGNC	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	C9JZ01_HUMAN		4	1827	+			UPI000040C511	567			C2H2-type 13.		SNV	ZNF813,missense_variant,p.Ala567Ser,ENST00000396403,NM_001004301.3;ZNF813,intron_variant,,ENST00000396421,;ZNF813,downstream_gene_variant,,ENST00000490956,;ZNF813,downstream_gene_variant,,ENST00000468450,;CTD-2224J9.4,upstream_gene_variant,,ENST00000483735,;	uc002qbu.2	c.1699G>T	1827/6151	1	1			c.1699G>T						19	SNP	c.(1699-1701)GCA>TCA	9	9			large_intestine(1)	1	Broad	zinc finger protein 813			53995185		0.378	ENSG00000198346	17904	g.chr19:53995185G>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							5.643604	KEEP	1	5	0.166666667	25	16	1	5	0.166666667	12.122472	25	16	0.113636	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF813_uc010eqq.1_Intron	114	GBM-06-6700-TP	p.A567S	G	AGCACACCTTGCACGTCACCA	NM_001004301	NP_001004301	53995185	Q6ZN06	ZN813_HUMAN	0		GBM - Glioblastoma multiforme(134;0.00619)	4	1827	+	T	T			Missense_Mutation	567			C2H2-type 13.			
ZNF813	0	broad.mit.edu	GRCh37	19	53994271	53994271	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01	TCGA-28-5208-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396403.4:c.785G>A	p.Arg262His	p.R262H	ENST00000396403	NM_001004301.3	262	cGt/cAt	0			1			A	R/H	uc002qbu.2	protein_coding	YES	CCDS46172.1			785/1854									large_intestine(1)	1	c.(784-786)CGT>CAT			PROSITE_profiles:PS50157,hmmpanther:PTHR24407:SF12,hmmpanther:PTHR24407,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 813				ENSP00000379684		4-Apr	3.29E-05					4.50E-05	0.00111		rs766270427,COSM3404545	4-Apr	.		ENST00000396403	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000198346	g.chr19:53994271G>A	33257			MODERATE		1.715	low	getma.org/?cm=msa&ty=f&p=ZN813_HUMAN&rb=237&re=302&var=R262H	getma.org/pdb.php?prot=ZN813_HUMAN&from=257&to=282&var=R262H	getma.org/?cm=var&var=hg19,19,53994271,G,A&fts=all	R262H	--	--	1																																		ZNF813_uc010eqq.1_Intron	0,1	1		benign(0.031)	p.R262H	NM_001004301	NP_001004301		tolerated(0.33)	0,1	ZN813_HUMAN	ZNF813	HGNC	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	C9JZ01_HUMAN		4	913	+			UPI000040C511	262			C2H2-type 2.		SNV	ZNF813,missense_variant,p.Arg262His,ENST00000396403,NM_001004301.3;ZNF813,intron_variant,,ENST00000396421,;ZNF813,downstream_gene_variant,,ENST00000490956,;ZNF813,downstream_gene_variant,,ENST00000468450,;CTD-2224J9.4,upstream_gene_variant,,ENST00000483735,;	uc002qbu.2	c.785G>A	913/6151	2	2			c.785G>A						19	SNP	c.(784-786)CGT>CAT	21	21			large_intestine(1)	1	Broad	zinc finger protein 813			53994271		0.413	ENSG00000198346	17904	g.chr19:53994271G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							154.832864	KEEP	28	42	-1	118	101	28	42	-1	172.12602	118	101	0.237226	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF813_uc010eqq.1_Intron	217	GBM-28-5208-TP	p.R262H	G	GTGTGCCATCGTAGATGTCAC	NM_001004301	NP_001004301	53994271	Q6ZN06	ZN813_HUMAN	0		GBM - Glioblastoma multiforme(134;0.00619)	4	913	+	A	A			Missense_Mutation	262			C2H2-type 2.			
ZNF816	0	broad.mit.edu	GRCh37	19	53453300	53453300	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-12-0688-01	TCGA-12-0688-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357666.4:c.1728A>G	p.Gln576=	p.Q576=	ENST00000357666	NM_001031665.2	576	caA/caG	0			1			C	Q	uc002qal.1	protein_coding	YES	CCDS33096.1			1728/1956										0	c.(1726-1728)CAA>CAG			Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF236,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 816A				ENSP00000350295		5-May									COSM2153931	5-May	.		ENST00000357666	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000180257	g.chr19:53453300T>C	26995			LOW								--	--	1																																		ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Silent_p.Q560Q	1	1			p.Q576Q	NM_001031665	NP_001026835			1	ZN816_HUMAN	ZNF816	HGNC	Q0VGE8	ZN816_HUMAN		GBM - Glioblastoma multiforme(134;0.0313)	I3L0H5_HUMAN		5	2029	-			UPI0000251D78	576			C2H2-type 13.		SNV	ZNF816,synonymous_variant,p.=,ENST00000357666,NM_001031665.2;ZNF816,synonymous_variant,p.=,ENST00000444460,NM_001202457.1,NM_001202456.1;ZNF321P,intron_variant,,ENST00000391777,;ZNF816,intron_variant,,ENST00000434371,;ZNF816,downstream_gene_variant,,ENST00000270457,;ZNF816,downstream_gene_variant,,ENST00000391786,;ZNF816,downstream_gene_variant,,ENST00000457013,;ZNF816,downstream_gene_variant,,ENST00000535506,;ZNF816,downstream_gene_variant,,ENST00000438970,;ZNF816,downstream_gene_variant,,ENST00000332302,;	uc002qal.1	c.1728A>G	2029/2697	3	3			c.1728A>G						19	SNP	c.(1726-1728)CAA>CAG	59	59				0	Broad	zinc finger protein 816A			53453300		0.388	ENSG00000180257	17905	g.chr19:53453300T>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							196.1686	KEEP	38	26	-1	88	68	38	26	-1	204.49367	88	68	0.29108	1	0	0	0	0	0	0	1	0	--	--		0	C			ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Silent_p.Q560Q	121	GBM-12-0688-TP	p.Q576Q	T	GGATTCCTTTTTGATTAAAAA	NM_001031665	NP_001026835	53453300	Q0VGE8	ZN816_HUMAN	0		GBM - Glioblastoma multiforme(134;0.0313)	5	2029	-	C	C			Silent	576			C2H2-type 13.			
ZNF816	0	broad.mit.edu	GRCh37	19	53454033	53454033	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01	TCGA-32-4211-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357666.4:c.995G>A	p.Arg332His	p.R332H	ENST00000357666	NM_001031665.2	332	cGt/cAt	0			1			T	R/H	uc002qal.1	protein_coding	YES	CCDS33096.1			995/1956										0	c.(994-996)CGT>CAT			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF236,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 816A				ENSP00000350295		5-May	6.59E-05			0.000578		3.00E-05		6.06E-05	rs755506445,COSM2157389	5-May	common_variant		ENST00000357666	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000180257	g.chr19:53454033C>T	26995			MODERATE		1.735	low	getma.org/?cm=msa&ty=f&p=ZN816_HUMAN&rb=307&re=372&var=R332H	getma.org/pdb.php?prot=ZN816_HUMAN&from=327&to=352&var=R332H	getma.org/?cm=var&var=hg19,19,53454033,C,T&fts=all	R332H	--	--	1																																		ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Missense_Mutation_p.R316H	0,1	1		benign(0.014)	p.R332H	NM_001031665	NP_001026835		tolerated(0.16)	0,1	ZN816_HUMAN	ZNF816	HGNC	Q0VGE8	ZN816_HUMAN		GBM - Glioblastoma multiforme(134;0.0313)	I3L0H5_HUMAN		5	1296	-			UPI0000251D78	332			C2H2-type 4.		SNV	ZNF816,missense_variant,p.Arg332His,ENST00000357666,NM_001031665.2;ZNF816,missense_variant,p.Arg332His,ENST00000444460,NM_001202457.1,NM_001202456.1;ZNF321P,intron_variant,,ENST00000391777,;ZNF816,intron_variant,,ENST00000434371,;ZNF816,downstream_gene_variant,,ENST00000270457,;ZNF816,downstream_gene_variant,,ENST00000391786,;ZNF816,downstream_gene_variant,,ENST00000457013,;ZNF816,downstream_gene_variant,,ENST00000535506,;ZNF816,downstream_gene_variant,,ENST00000438970,;ZNF816,downstream_gene_variant,,ENST00000332302,;	uc002qal.1	c.995G>A	1296/2697	1	1			c.995G>A						19	SNP	c.(994-996)CGT>CAT	5	5				0	Broad	zinc finger protein 816A			53454033		0.423	ENSG00000180257	17905	g.chr19:53454033C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							394.095251	KEEP	67	81	-1	129	142	67	81	-1	400.852834	129	142	0.357895	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Missense_Mutation_p.R316H	246	GBM-32-4211-TP	p.R332H	C	ATGAAGTCTACGATGGCATCT	NM_001031665	NP_001026835	53454033	Q0VGE8	ZN816_HUMAN	0		GBM - Glioblastoma multiforme(134;0.0313)	5	1296	-	T	T			Missense_Mutation	332			C2H2-type 4.			
ZNF827	152485		GRCh37	4	146791485	146791485	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-74-6584-01	TCGA-74-6584-01																				ENST00000379448.4:c.1893C>T	p.Asp631=	p.D631=	ENST00000379448	NM_178835.3	631	gaC/gaT	0																																																																																																																																																																																																																																												
ZNF827	152485		GRCh37	4	146697085	146697085	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000379448.4:c.2549G>A	p.Cys850Tyr	p.C850Y	ENST00000379448	NM_178835.3	850	tGc/tAc	0																																																																																																																																																																																																																																												
ZNF83	55769	broad.mit.edu	GRCh37	19	53116375	53116375	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0152-01	TCGA-06-0152-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000597597.1:c.1443A>G	p.Gly481=	p.G481=	ENST00000597597		481	ggA/ggG	0			1			C	G	uc002pzu.3	protein_coding		CCDS12854.1			1443/1551									ovary(1)	1	c.(1441-1443)GGA>GGG			Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF108,Superfamily_domains:SSF57667	zinc finger protein 83 isoform a				ENSP00000301096		3-Mar									COSM3404528	3-Mar	.		ENST00000301096	Transcript				nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000167766	g.chr19:53116375T>C	13158			LOW								--	--	1																																		ZNF83_uc002pzv.3_Silent_p.G481G|ZNF83_uc010eps.2_Silent_p.G453G|ZNF83_uc010ept.2_Silent_p.G481G|ZNF83_uc010epu.2_Silent_p.G481G|ZNF83_uc010epv.2_Silent_p.G481G|ZNF83_uc010epw.2_Silent_p.G481G|ZNF83_uc010epx.2_Silent_p.G453G|ZNF83_uc010epy.2_Silent_p.G481G|ZNF83_uc010epz.2_Silent_p.G453G	1				p.G481G	NM_018300	NP_060770			1	ZNF83_HUMAN	ZNF83	HGNC	P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	H9XFB5_HUMAN		2	2687	-			UPI000013E6CF	481					SNV	ZNF83,synonymous_variant,p.=,ENST00000597597,;ZNF83,synonymous_variant,p.=,ENST00000541777,;ZNF83,synonymous_variant,p.=,ENST00000544146,NM_001105549.1;ZNF83,synonymous_variant,p.=,ENST00000536937,NM_001105551.1,NM_001277952.1,NM_001105550.1;ZNF83,synonymous_variant,p.=,ENST00000545872,NM_001277951.1;ZNF83,synonymous_variant,p.=,ENST00000301096,NM_018300.3,NM_001277947.1;ZNF83,synonymous_variant,p.=,ENST00000391789,;ZNF83,3_prime_UTR_variant,,ENST00000594682,NM_001277945.1,NM_001105552.1,NM_001277948.1,NM_001277946.1;ZNF83,intron_variant,,ENST00000600714,;ZNF83,intron_variant,,ENST00000601257,;ZNF83,downstream_gene_variant,,ENST00000596930,;ZNF83,downstream_gene_variant,,ENST00000598536,;ZNF83,downstream_gene_variant,,ENST00000597161,;ZNF83,downstream_gene_variant,,ENST00000595171,;ZNF83,downstream_gene_variant,,ENST00000595939,;ZNF83,downstream_gene_variant,,ENST00000601140,;	uc002pzu.3	c.1443A>G	1844/2599	3	3			c.1443A>G						19	SNP	c.(1441-1443)GGA>GGG	1	1			ovary(1)	1	Broad	zinc finger protein 83 isoform a			53116375		0.388	ENSG00000167766	17912	g.chr19:53116375T>C		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							-30.710744	KEEP	2	1	-1	86	85	2	1	-1	7.173355	86	85	0.020408	1	0	0	0	0	0	0	1	0	--	--		0	C			ZNF83_uc002pzv.3_Silent_p.G481G|ZNF83_uc010eps.2_Silent_p.G453G|ZNF83_uc010ept.2_Silent_p.G481G|ZNF83_uc010epu.2_Silent_p.G481G|ZNF83_uc010epv.2_Silent_p.G481G|ZNF83_uc010epw.2_Silent_p.G481G|ZNF83_uc010epx.2_Silent_p.G453G|ZNF83_uc010epy.2_Silent_p.G481G|ZNF83_uc010epz.2_Silent_p.G453G	25	GBM-06-0152-TP	p.G481G	T	AATGTTTCTCTCCAGTGTGGA	NM_018300	NP_060770	53116375	P51522	ZNF83_HUMAN	0		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	2687	-	C	C			Silent	481						
ZNF831	128611	broad.mit.edu	GRCh37	20	57769723	57769723	+	stop_gained	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0185-01	TCGA-06-0185-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371030.2:c.3649C>T	p.Arg1217Ter	p.R1217*	ENST00000371030	NM_178457.2	1217	Cga/Tga	0	T:0		1			T	R/*	uc002yan.2	protein_coding	YES	CCDS42894.1			3649/5034									skin(13)|ovary(1)	14	c.(3649-3651)CGA>TGA			hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF52	zinc finger protein 831			T:0.0001	ENSP00000360069		5-Jan									rs376362684,COSM2150526	5-Jan	.		ENST00000371030	Transcript				intracellular	nucleic acid binding|zinc ion binding	ENSG00000124203	g.chr20:57769723C>T	16167			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,20,57769723,C,T&fts=all	R1217*	--	--	1																																			0,1	1			p.R1217*	NM_178457	NP_848552			0,1	ZN831_HUMAN	ZNF831	HGNC	Q5JPB2	ZN831_HUMAN					1	3649	+	all_lung(29;0.0085)		UPI00001D82E4	1217					SNV	ZNF831,stop_gained,p.Arg1217Ter,ENST00000371030,NM_178457.2;	uc002yan.2	c.3649C>T	3649/9404	5	2			c.3649C>T						20	SNP	c.(3649-3651)CGA>TGA	21	21			skin(13)|ovary(1)	14	Broad	zinc finger protein 831			57769723		0.627	ENSG00000124203	17914	g.chr20:57769723C>T		intracellular	nucleic acid binding|zinc ion binding							68.278517	KEEP	18	8	-1	29	29	18	8	-1	70.434903	29	29	0.32	1	0	0	0	0	0	1	0	0	--	--		0	T				40	GBM-06-0185-TP	p.R1217*	C	TAGCAGCCTCCGAGATGAGGG	NM_178457	NP_848552	57769723	Q5JPB2	ZN831_HUMAN	0			1	3649	+	T	T	all_lung(29;0.0085)		Nonsense_Mutation	1217						
ZNF831	0	broad.mit.edu	GRCh37	20	57829379	57829379	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-27-2521-01	TCGA-27-2521-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371030.2:c.4615G>A	p.Ala1539Thr	p.A1539T	ENST00000371030	NM_178457.2	1539	Gca/Aca	0			1			A	A/T	uc002yan.2	protein_coding	YES	CCDS42894.1			4615/5034									skin(13)|ovary(1)	14	c.(4615-4617)GCA>ACA			hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF52	zinc finger protein 831				ENSP00000360069		5-May									COSM3405236	5-May	.		ENST00000371030	Transcript				intracellular	nucleic acid binding|zinc ion binding	ENSG00000124203	g.chr20:57829379G>A	16167			MODERATE		0.69	neutral	getma.org/?cm=msa&ty=f&p=ZN831_HUMAN&rb=1346&re=1675&var=A1539T	NA	getma.org/?cm=var&var=hg19,20,57829379,G,A&fts=all	A1539T	--	--	1																																			1	1		benign(0.026)	p.A1539T	NM_178457	NP_848552		tolerated(0.26)	1	ZN831_HUMAN	ZNF831	HGNC	Q5JPB2	ZN831_HUMAN					5	4615	+	all_lung(29;0.0085)		UPI00001D82E4	1539					SNV	ZNF831,missense_variant,p.Ala1539Thr,ENST00000371030,NM_178457.2;	uc002yan.2	c.4615G>A	4615/9404	1	1			c.4615G>A						20	SNP	c.(4615-4617)GCA>ACA	51	51			skin(13)|ovary(1)	14	Broad	zinc finger protein 831			57829379		0.498	ENSG00000124203	17914	g.chr20:57829379G>A		intracellular	nucleic acid binding|zinc ion binding							-16.125759	KEEP	5	1	-1	62	55	5	1	-1	9.845725	62	55	0.043103	1	0	0	0	0	1	0	0	0	--	--		0	A				200	GBM-27-2521-TP	p.A1539T	G	AGAGGGCAGAGCACAGACCCT	NM_178457	NP_848552	57829379	Q5JPB2	ZN831_HUMAN	0			5	4615	+	A	A	all_lung(29;0.0085)		Missense_Mutation	1539						
ZNF831	0	broad.mit.edu	GRCh37	20	57766702	57766702	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01	TCGA-28-2502-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371030.2:c.628G>A	p.Gly210Arg	p.G210R	ENST00000371030	NM_178457.2	210	Ggg/Agg	0			1			A	G/R	uc002yan.2	protein_coding	YES	CCDS42894.1			628/5034									skin(13)|ovary(1)	14	c.(628-630)GGG>AGG			Low_complexity_(Seg):seg,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF52	zinc finger protein 831				ENSP00000360069		5-Jan									COSM3405233	5-Jan	.		ENST00000371030	Transcript				intracellular	nucleic acid binding|zinc ion binding	ENSG00000124203	g.chr20:57766702G>A	16167			MODERATE		0.805	low	getma.org/?cm=msa&ty=f&p=ZN831_HUMAN&rb=184&re=231&var=G210R	NA	getma.org/?cm=var&var=hg19,20,57766702,G,A&fts=all	G210R	--	--	1																																			1	1		probably_damaging(0.983)	p.G210R	NM_178457	NP_848552		deleterious(0)	1	ZN831_HUMAN	ZNF831	HGNC	Q5JPB2	ZN831_HUMAN					1	628	+	all_lung(29;0.0085)		UPI00001D82E4	210					SNV	ZNF831,missense_variant,p.Gly210Arg,ENST00000371030,NM_178457.2;	uc002yan.2	c.628G>A	628/9404	1	1			c.628G>A						20	SNP	c.(628-630)GGG>AGG	52	52			skin(13)|ovary(1)	14	Broad	zinc finger protein 831			57766702		0.677	ENSG00000124203	17914	g.chr20:57766702G>A		intracellular	nucleic acid binding|zinc ion binding							40.303098	KEEP	10	14	-1	29	43	10	14	-1	46.443262	29	43	0.216867	1	0	0	0	0	1	0	0	0	--	--		0	A				210	GBM-28-2502-TP	p.G210R	G	CGAGGGCGCCGGGGGCGGCCT	NM_178457	NP_848552	57766702	Q5JPB2	ZN831_HUMAN	0			1	628	+	A	A	all_lung(29;0.0085)		Missense_Mutation	210						
ZNF831	128611		GRCh37	20	57767405	57767405	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-6646-01	TCGA-41-6646-01																				ENST00000371030.2:c.1331C>T	p.Thr444Met	p.T444M	ENST00000371030	NM_178457.2	444	aCg/aTg	0																																																																																																																																																																																																																																												
ZNF831	128611		GRCh37	20	57768855	57768855	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000371030.2:c.2781A>C	p.Arg927Ser	p.R927S	ENST00000371030	NM_178457.2	927	agA/agC	0																																																																																																																																																																																																																																												
ZNF839	0	broad.mit.edu	GRCh37	14	102792551	102792551	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01	TCGA-27-1834-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000558850.1:c.170C>T	p.Pro57Leu	p.P57L	ENST00000558850	NM_001267827.1	57	cCt/cTt	0			1			T	P/L	uc001ylo.2	protein_coding		CCDS58336.1			170/2436									ovary(1)|central_nervous_system(1)	2	c.(169-171)CCT>CTT			hmmpanther:PTHR16116	zinc finger protein 839				ENSP00000453363		8-Feb									COSM3401121	8-Feb	.		ENST00000558850	Transcript				intracellular	zinc ion binding	ENSG00000022976	g.chr14:102792551C>T	20345			MODERATE		1.67	low	getma.org/?cm=msa&ty=f&p=ZN839_HUMAN&rb=1&re=809&var=P57L	NA	getma.org/?cm=var&var=hg19,14,102792551,C,T&fts=all	P57L	--	--	1																																		ZNF839_uc010awk.1_Missense_Mutation_p.P173L|ZNF839_uc001ylp.2_RNA|ZNF839_uc001ylq.1_Missense_Mutation_p.P57L|ZNF839_uc001ylr.2_Missense_Mutation_p.P57L	1			benign(0.197)	p.P57L	NM_018335	NP_060805		deleterious(0.02)	1	ZN839_HUMAN	ZNF839	HGNC	A8K0R7	ZN839_HUMAN			H0YKY1_HUMAN,B3KWS2_HUMAN		2	520	+			UPI00015DA495	57					SNV	ZNF839,missense_variant,p.Pro57Leu,ENST00000262236,NM_018335.4;ZNF839,missense_variant,p.Pro173Leu,ENST00000442396,;ZNF839,missense_variant,p.Pro57Leu,ENST00000558850,NM_001267827.1;ZNF839,missense_variant,p.Pro57Leu,ENST00000559185,NM_001267828.1;ZNF839,upstream_gene_variant,,ENST00000561251,;ZNF839,missense_variant,p.Pro109Leu,ENST00000559098,;	uc001ylo.2	c.170C>T	520/2971	2	2			c.170C>T						14	SNP	c.(169-171)CCT>CTT	34	34			ovary(1)|central_nervous_system(1)	2	Broad	zinc finger protein 839			102792551		0.597	ENSG00000022976	17917	g.chr14:102792551C>T		intracellular	zinc ion binding							58.181044	KEEP	8	14	-1	4	10	8	14	-1	58.579352	4	10	0.62963	1	0	0	0	0	1	0	0	0	--	--		0	T			ZNF839_uc010awk.1_Missense_Mutation_p.P173L|ZNF839_uc001ylp.2_RNA|ZNF839_uc001ylq.1_Missense_Mutation_p.P57L|ZNF839_uc001ylr.2_Missense_Mutation_p.P57L	193	GBM-27-1834-TP	p.P57L	C	TGCCAACCTCCTGCTCAGGGG	NM_018335	NP_060805	102792551	A8K0R7	ZN839_HUMAN	0			2	520	+	T	T			Missense_Mutation	57						
ZNF845	91664		GRCh37	19	53856702	53856702	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01	TCGA-19-5953-01																				ENST00000458035.1:c.2774G>A	p.Arg925His	p.R925H	ENST00000458035	NM_138374.1	925	cGt/cAt	0																																																																																																																																																																																																																																												
ZNF845	91664		GRCh37	19	53854579	53854579	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000458035.1:c.651T>C	p.Cys217=	p.C217=	ENST00000458035	NM_138374.1	217	tgT/tgC	0																																																																																																																																																																																																																																												
ZNF85	0	broad.mit.edu	GRCh37	19	21131689	21131689	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-32-4213-01	TCGA-32-4213-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328178.8:c.369G>A	p.Glu123=	p.E123=	ENST00000328178	NM_003429.4	123	gaG/gaA	0			1			A	E	uc002npg.3	protein_coding	YES	CCDS32977.1			369/1788									central_nervous_system(1)	1	c.(367-369)GAG>GAA			hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF88	zinc finger protein 85				ENSP00000329793		4-Apr									COSM3404006	4-Apr	.		ENST00000328178	Transcript				nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	ENSG00000105750	g.chr19:21131689G>A	13160			LOW								--	--	1																																		ZNF85_uc010ecn.2_Silent_p.E58E|ZNF85_uc010eco.2_Silent_p.E71E|ZNF85_uc002npi.2_Silent_p.E64E	1	1			p.E123E	NM_003429	NP_003420			1	ZNF85_HUMAN	ZNF85	HGNC	Q03923	ZNF85_HUMAN			M0R385_HUMAN,M0R120_HUMAN,M0QZN6_HUMAN		4	496	+			UPI0000203897	123					SNV	ZNF85,synonymous_variant,p.=,ENST00000601023,;ZNF85,synonymous_variant,p.=,ENST00000328178,NM_003429.4,NM_001256173.1;ZNF85,synonymous_variant,p.=,ENST00000345030,;ZNF85,synonymous_variant,p.=,ENST00000596534,;ZNF85,synonymous_variant,p.=,ENST00000599064,;ZNF85,synonymous_variant,p.=,ENST00000595742,;ZNF85,synonymous_variant,p.=,ENST00000598862,;ZNF85,synonymous_variant,p.=,ENST00000599885,;ZNF85,synonymous_variant,p.=,ENST00000601924,;ZNF85,3_prime_UTR_variant,,ENST00000597314,;ZNF85,downstream_gene_variant,,ENST00000300540,NM_001256172.1;ZNF85,downstream_gene_variant,,ENST00000595854,;ZNF85,downstream_gene_variant,,ENST00000601284,;	uc002npg.3	c.369G>A	482/2296	2	2			c.369G>A						19	SNP	c.(367-369)GAG>GAA	45	45			central_nervous_system(1)	1	Broad	zinc finger protein 85			21131689		0.328	ENSG00000105750	17920	g.chr19:21131689G>A		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding							81.02818	KEEP	10	22	-1	33	39	10	22	-1	84.248557	33	39	0.305263	1	0	0	0	0	0	0	1	0	--	--		0	A			ZNF85_uc010ecn.2_Silent_p.E58E|ZNF85_uc010eco.2_Silent_p.E71E|ZNF85_uc002npi.2_Silent_p.E64E	247	GBM-32-4213-TP	p.E123E	G	GTATGGATGAGTGTAAGATGC	NM_003429	NP_003420	21131689	Q03923	ZNF85_HUMAN	0			4	496	+	A	A			Silent	123						
ZNF883	169834	broad.mit.edu	GRCh37	9	115759611	115759611	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T			TCGA-06-2564-01	TCGA-06-2564-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000427548.1:n.2203G>A		p.*735*	ENST00000427548				0			1			T		uc011lwy.1	lincRNA	YES														0	c.(928-930)CGA>CAA				hypothetical protein LOC169834						5-May	5.77E-05		0.000173			5.99E-05	0.00111		rs748826514	5-May	.		ENST00000427548	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000228623	g.chr9:115759611C>T	27271			MODIFIER		1.18	low	getma.org/?cm=msa&ty=f&p=ZN883_HUMAN&rb=287&re=351&var=R310Q	getma.org/pdb.php?prot=ZN883_HUMAN&from=307&to=331&var=R310Q	getma.org/?cm=var&var=hg19,9,115759611,C,T&fts=all	R310Q	--	--	1																																				1			p.R310Q	NM_001101338	NP_001094808					ZNF883	HGNC	P0CG24	ZN883_HUMAN					5	2168	-				310			C2H2-type 11.		SNV	ZNF883,non_coding_transcript_exon_variant,,ENST00000427548,;	uc011lwy.1	c.929G>A	2203/2319	2	2			c.929G>A						9	SNP	c.(928-930)CGA>CAA	36	36				0	Broad	hypothetical protein LOC169834			115759611		0.373	ENSG00000228623	17924	g.chr9:115759611C>T	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							269.2213	KEEP	59	43	-1	113	92	59	43	-1	276.801506	113	92	0.328767	1	0	0	0	0	1	0	0	0	--	--		0	T				87	GBM-06-2564-TP	p.R310Q	C	CCTCTGATGTCGAATTAGTGA	NM_001101338	NP_001094808	115759611	P0CG24	ZN883_HUMAN	0			5	2168	-	T	T			Missense_Mutation	310			C2H2-type 11.			
ZNF883	169834		GRCh37	9	115760403	115760403	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000427548.1:n.1411G>A		p.*471*	ENST00000427548				0																																																																																																																																																																																																																																												
ZNF883	169834		GRCh37	9	115760511	115760511	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A			TCGA-76-6660-01	TCGA-76-6660-01																				ENST00000427548.1:n.1303C>T		p.*435*	ENST00000427548				0																																																																																																																																																																																																																																												
ZNF91	7644	broad.mit.edu	GRCh37	19	23545038	23545038	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0158-01	TCGA-06-0158-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300619.7:c.743A>G	p.Lys248Arg	p.K248R	ENST00000300619	NM_003430.2	248	aAg/aGg	0			1			C	K/R	uc002nre.2	protein_coding	YES	CCDS42541.1			743/3576										0	c.(742-744)AAG>AGG			Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF100,PROSITE_profiles:PS50157	zinc finger protein 91				ENSP00000300619		4-Apr									COSM3404052,COSM3404051	4-Apr	.		ENST00000300619	Transcript				nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000167232	g.chr19:23545038T>C	13166			MODERATE		-0.57	neutral	getma.org/?cm=msa&ty=f&p=ZNF91_HUMAN&rb=218&re=280&var=K248R	getma.org/pdb.php?prot=ZNF91_HUMAN&from=238&to=260&var=K248R	getma.org/?cm=var&var=hg19,19,23545038,T,C&fts=all	K248R	--	--	1																																		ZNF91_uc010xrj.1_Missense_Mutation_p.K216R	1,1	1		probably_damaging(0.973)	p.K248R	NM_003430	NP_003421		tolerated(0.51)	1,1	ZNF91_HUMAN	ZNF91	HGNC	Q05481	ZNF91_HUMAN			M0R186_HUMAN		4	856	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	UPI00002038F9	248			C2H2-type 4.		SNV	ZNF91,missense_variant,p.Lys248Arg,ENST00000300619,NM_003430.2;ZNF91,missense_variant,p.Lys216Arg,ENST00000397082,;ZNF91,missense_variant,p.Lys149Arg,ENST00000595533,;ZNF91,intron_variant,,ENST00000599743,;ZNF91,intron_variant,,ENST00000596989,;ZNF91,upstream_gene_variant,,ENST00000596528,;ZNF91,upstream_gene_variant,,ENST00000599281,;ZNF91,upstream_gene_variant,,ENST00000593341,;	uc002nre.2	c.743A>G	949/5489	3	3			c.743A>G						19	SNP	c.(742-744)AAG>AGG	3	3				0	Broad	zinc finger protein 91			23545038		0.363	ENSG00000167232	17925	g.chr19:23545038T>C		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							89.765562	KEEP	20	21	-1	124	129	20	21	-1	122.456623	124	129	0.142857	1	0	0	0	0	1	0	0	0	--	--		0	C			ZNF91_uc010xrj.1_Missense_Mutation_p.K216R	29	GBM-06-0158-TP	p.K248R	T	TGAGAGCTGCTTAAAAGCTTT	NM_003430	NP_003421	23545038	Q05481	ZNF91_HUMAN	0			4	856	-	C	C		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	Missense_Mutation	248			C2H2-type 4.			
ZNF91	7644	broad.mit.edu	GRCh37	19	23542219	23542219	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0879-01	TCGA-06-0879-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300619.7:c.3562C>T	p.Pro1188Ser	p.P1188S	ENST00000300619	NM_003430.2	1188	Ccc/Tcc	0			1			A	P/S	uc002nre.2	protein_coding	YES	CCDS42541.1			3562/3576										0	c.(3562-3564)CCC>TCC				zinc finger protein 91				ENSP00000300619		4-Apr									COSM3404048,COSM3404047	4-Apr	.		ENST00000300619	Transcript				nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000167232	g.chr19:23542219G>A	13166			MODERATE		1.15	low	getma.org/?cm=msa&ty=f&p=ZNF91_HUMAN&rb=1146&re=1191&var=P1188S	NA	getma.org/?cm=var&var=hg19,19,23542219,G,A&fts=all	P1188S	--	--	1																																		ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.P1156S	1,1	1		benign(0)	p.P1188S	NM_003430	NP_003421			1,1	ZNF91_HUMAN	ZNF91	HGNC	Q05481	ZNF91_HUMAN			M0R186_HUMAN		4	3675	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	UPI00002038F9	1188					SNV	ZNF91,missense_variant,p.Pro1188Ser,ENST00000300619,NM_003430.2;ZNF91,missense_variant,p.Pro1156Ser,ENST00000397082,;ZNF91,intron_variant,,ENST00000599743,;ZNF91,downstream_gene_variant,,ENST00000595533,;ZNF91,intron_variant,,ENST00000596989,;ZNF91,upstream_gene_variant,,ENST00000596528,;ZNF91,upstream_gene_variant,,ENST00000599281,;ZNF91,upstream_gene_variant,,ENST00000593341,;	uc002nre.2	c.3562C>T	3768/5489	2	2			c.3562C>T						19	SNP	c.(3562-3564)CCC>TCC	30	30				0	Broad	zinc finger protein 91			23542219		0.01	ENSG00000167232	17925	g.chr19:23542219G>A		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							19.781371	KEEP	2	6	-1	15	11	2	6	-1	21.961159	15	11	0.235294	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.P1156S	75	GBM-06-0879-TP	p.P1188S	G	tagagaaggggtttcactgtg	NM_003430	NP_003421	23542219	Q05481	ZNF91_HUMAN	0			4	3675	-	A	A		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	Missense_Mutation	1188						
ZNF91	0	broad.mit.edu	GRCh37	19	23543307	23543307	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-27-1831-01	TCGA-27-1831-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000300619.7:c.2474C>G	p.Pro825Arg	p.P825R	ENST00000300619	NM_003430.2	825	cCc/cGc	0			1			C	P/R	uc002nre.2	protein_coding	YES	CCDS42541.1			2474/3576										0	c.(2473-2475)CCC>CGC			Superfamily_domains:SSF57667,Gene3D:3.30.160.60,Pfam_domain:PF13465,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF100,PROSITE_profiles:PS50157	zinc finger protein 91				ENSP00000300619		4-Apr									COSM3404050,COSM3404049	4-Apr	.		ENST00000300619	Transcript				nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000167232	g.chr19:23543307G>C	13166			MODERATE		1.975	medium	getma.org/?cm=msa&ty=f&p=ZNF91_HUMAN&rb=792&re=857&var=P825R	getma.org/pdb.php?prot=ZNF91_HUMAN&from=812&to=837&var=P825R	getma.org/?cm=var&var=hg19,19,23543307,G,C&fts=all	P825R	--	--	1																																		ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.P793R	1,1	1		probably_damaging(0.999)	p.P825R	NM_003430	NP_003421		deleterious(0)	1,1	ZNF91_HUMAN	ZNF91	HGNC	Q05481	ZNF91_HUMAN			M0R186_HUMAN		4	2587	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	UPI00002038F9	825					SNV	ZNF91,missense_variant,p.Pro825Arg,ENST00000300619,NM_003430.2;ZNF91,missense_variant,p.Pro793Arg,ENST00000397082,;ZNF91,intron_variant,,ENST00000599743,;ZNF91,downstream_gene_variant,,ENST00000595533,;ZNF91,intron_variant,,ENST00000596989,;ZNF91,upstream_gene_variant,,ENST00000596528,;ZNF91,upstream_gene_variant,,ENST00000599281,;ZNF91,upstream_gene_variant,,ENST00000593341,;	uc002nre.2	c.2474C>G	2680/5489	3	3			c.2474C>G						19	SNP	c.(2473-2475)CCC>CGC	2	2				0	Broad	zinc finger protein 91			23543307		0.403	ENSG00000167232	17925	g.chr19:23543307G>C		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							23.688377	KEEP	10	8	-1	78	66	10	8	-1	45.796244	78	66	0.113333	1	0	0	0	0	1	0	0	0	--	--		0	C			ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.P793R	190	GBM-27-1831-TP	p.P825R	G	ACATTTGTAGGGTTTCTCTCC	NM_003430	NP_003421	23543307	Q05481	ZNF91_HUMAN	0			4	2587	-	C	C		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	Missense_Mutation	825						
ZNF91	7644		GRCh37	19	23544856	23544856	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-			TCGA-76-6656-01	TCGA-76-6656-01																				ENST00000300619.7:c.925del	p.Ala310LeufsTer61	p.A310Lfs*61	ENST00000300619	NM_003430.2	309	Ctt/tt	0																																																																																																																																																																																																																																												
ZNF92	168374	broad.mit.edu	GRCh37	7	64864755	64864755	+	synonymous_variant	Silent	SNP	C	C	A			TCGA-06-5408-01	TCGA-06-5408-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000328747.7:c.1728C>A	p.Ser576=	p.S576=	ENST00000328747	NM_152626.2	576	tcC/tcA	0			1			A	S	uc003ttz.2	protein_coding	YES	CCDS34646.1			1728/1761										0	c.(1726-1728)TCC>TCA			Gene3D:3.30.160.60	zinc finger protein 92 isoform 2				ENSP00000332595		4-Apr									COSM3412232	4-Apr	.		ENST00000328747	Transcript				nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000146757	g.chr7:64864755C>A	13168			LOW								--	--	1																																		ZNF92_uc003tua.2_Silent_p.S507S|ZNF92_uc010kzu.2_Silent_p.S544S|ZNF92_uc003tub.2_Silent_p.S500S	1	1			p.S576S	NM_152626	NP_689839			1	ZNF92_HUMAN	ZNF92	HGNC	Q03936	ZNF92_HUMAN			C9IZS8_HUMAN		4	1871	+		Lung NSC(55;0.159)	UPI0000073CE6	576			C2H2-type 16; degenerate.		SNV	ZNF92,synonymous_variant,p.=,ENST00000328747,NM_152626.2;ZNF92,synonymous_variant,p.=,ENST00000357512,NM_001287532.1;ZNF92,synonymous_variant,p.=,ENST00000450302,NM_007139.2;ZNF92,synonymous_variant,p.=,ENST00000431504,NM_001287534.1;	uc003ttz.2	c.1728C>A	1927/3210	2	2			c.1728C>A						7	SNP	c.(1726-1728)TCC>TCA	24	24				0	Broad	zinc finger protein 92 isoform 2			64864755		0.348	ENSG00000146757	17926	g.chr7:64864755C>A		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							105.444679	KEEP	20	20	0.5	20	16	20	20	0.5	105.457598	20	16	0.515152	1	0	0	0	0	0	0	1	0	--	--		0	A			ZNF92_uc003tua.2_Silent_p.S507S|ZNF92_uc010kzu.2_Silent_p.S544S|ZNF92_uc003tub.2_Silent_p.S500S	92	GBM-06-5408-TP	p.S576S	C	TTAACAAATCCTCAAATTATA	NM_152626	NP_689839	64864755	Q03936	ZNF92_HUMAN	0			4	1871	+	A	A		Lung NSC(55;0.159)	Silent	576			C2H2-type 16; degenerate.			
ZNF98	0	broad.mit.edu	GRCh37	19	22575722	22575722	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-28-5209-01	TCGA-28-5209-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000357774.5:c.315A>G	p.Gln105=	p.Q105=	ENST00000357774	NM_001098626.1	105	caA/caG	0			1			C	Q	uc002nqt.2	protein_coding	YES	CCDS46031.1			315/1719									ovary(1)|skin(1)	2	c.(313-315)CAA>CAG			hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF108	zinc finger protein 98				ENSP00000350418		4-Apr									COSM3404036,COSM3404035	4-Apr	.		ENST00000357774	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000197360	g.chr19:22575722T>C	13174			LOW								--	--	1																																			1,1	1			p.Q105Q	NM_001098626	NP_001092096			1,1	ZNF98_HUMAN	ZNF98	HGNC	A6NK75	ZNF98_HUMAN			M0QZS3_HUMAN		4	437	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	UPI0000251DC5	105					SNV	ZNF98,synonymous_variant,p.=,ENST00000357774,NM_001098626.1;ZNF98,synonymous_variant,p.=,ENST00000593657,;	uc002nqt.2	c.315A>G	437/2338	3	3			c.315A>G						19	SNP	c.(313-315)CAA>CAG	11	11			ovary(1)|skin(1)	2	Broad	zinc finger protein 98			22575722		0.299	ENSG00000197360	17928	g.chr19:22575722T>C	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							63.529851	KEEP	13	11	-1	45	31	13	11	-1	69.202686	45	31	0.235955	1	0	0	0	0	0	0	1	0	--	--		0	C				218	GBM-28-5209-TP	p.Q105Q	T	GTATCACTTTTTGGAAATAAT	NM_001098626	NP_001092096	22575722	A6NK75	ZNF98_HUMAN	0			4	437	-	C	C		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	Silent	105						
ZNF99	7652	broad.mit.edu	GRCh37	19	22940645	22940645	+	missense_variant	Missense_Mutation	SNP	A	A	T			TCGA-02-0033-01	TCGA-02-0033-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000596209.1:c.2066T>A	p.Phe689Tyr	p.F689Y	ENST00000596209	NM_001080409.2	689	tTc/tAc	0			1			T	F/Y	uc010xrh.1	protein_coding	YES	CCDS59369.1			2066/2595									ovary(1)|skin(1)	2	c.(1792-1794)TTC>TAC			Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24375:SF102,hmmpanther:PTHR24375,PROSITE_profiles:PS50157	zinc finger protein 99				ENSP00000472969		4-Apr									COSM3404041	4-Apr	.		ENST00000596209	Transcript						ENSG00000213973	g.chr19:22940645A>T	13175			MODERATE		-0.345	neutral	getma.org/?cm=msa&ty=f&p=ZNF99_HUMAN&rb=568&re=629&var=F598Y	getma.org/pdb.php?prot=ZNF99_HUMAN&from=598&to=599&var=F598Y	getma.org/?cm=var&var=hg19,19,22940645,A,T&fts=all	F598Y	--	--	1																																			1	1		possibly_damaging(0.898)	p.F598Y	NM_001080409	NP_001073878		tolerated(1)	1		ZNF99	HGNC					M0R335_HUMAN		5	1793	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)	UPI0000426011						SNV	ZNF99,missense_variant,p.Phe598Tyr,ENST00000397104,;ZNF99,missense_variant,p.Phe689Tyr,ENST00000596209,NM_001080409.2;CTC-451A6.4,upstream_gene_variant,,ENST00000442497,;	uc010xrh.1	c.1793T>A	2157/2686	2	2			c.1793T>A						19	SNP	c.(1792-1794)TTC>TAC	17	17			ovary(1)|skin(1)	2	Broad	zinc finger protein 99			22940645		0.368	ENSG00000213973	17929	g.chr19:22940645A>T										90.507365	KEEP	24	17	-1	75	70	24	17	-1	101.776975	75	70	0.232558	1	0	0	0	0	1	0	0	0	--	--		0	T				2	GBM-02-0033-TP	p.F598Y	A	AAGGGCTGAGAAATGGTTAAA	NM_001080409	NP_001073878	22940645			0			5	1793	-	T	T		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)	Missense_Mutation							
ZNF99	7652	broad.mit.edu	GRCh37	19	22941129	22941129	+	missense_variant	Missense_Mutation	SNP	T	T	G			TCGA-06-0744-01	TCGA-06-0744-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000596209.1:c.1582A>C	p.Lys528Gln	p.K528Q	ENST00000596209	NM_001080409.2	528	Aag/Cag	0			1			G	K/Q	uc010xrh.1	protein_coding	YES	CCDS59369.1			1582/2595									ovary(1)|skin(1)	2	c.(1309-1311)AAG>CAG			Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24375:SF102,hmmpanther:PTHR24375,PROSITE_profiles:PS50157	zinc finger protein 99				ENSP00000472969		4-Apr	3.31E-05			0.000117				0.000182	rs775173197,COSM1494172	4-Apr	.		ENST00000596209	Transcript						ENSG00000213973	g.chr19:22941129T>G	13175			MODERATE		0.595	neutral	getma.org/?cm=msa&ty=f&p=ZNF99_HUMAN&rb=412&re=477&var=K437Q	getma.org/pdb.php?prot=ZNF99_HUMAN&from=432&to=457&var=K437Q	getma.org/?cm=var&var=hg19,19,22941129,T,G&fts=all	K437Q	--	--	1																																			0,1	1		benign(0.031)	p.K437Q	NM_001080409	NP_001073878		tolerated(0.94)	0,1		ZNF99	HGNC					M0R335_HUMAN		5	1309	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)	UPI0000426011						SNV	ZNF99,missense_variant,p.Lys437Gln,ENST00000397104,;ZNF99,missense_variant,p.Lys528Gln,ENST00000596209,NM_001080409.2;CTC-451A6.4,upstream_gene_variant,,ENST00000442497,;	uc010xrh.1	c.1309A>C	1673/2686	4	4			c.1309A>C						19	SNP	c.(1309-1311)AAG>CAG	17	17			ovary(1)|skin(1)	2	Broad	zinc finger protein 99			22941129		0.333	ENSG00000213973	17929	g.chr19:22941129T>G										-12.944859	KEEP	3	0	-1	62	34	3	0	-1	7.281375	62	34	0.034884	1	0	0	0	0	1	0	0	0	--	--		0	G				66	GBM-06-0744-TP	p.K437Q	T	TGAATTATCTTATGTTTTCTA	NM_001080409	NP_001073878	22941129			0			5	1309	-	G	G		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)	Missense_Mutation							
ZNF99	7652	broad.mit.edu	GRCh37	19	22941154	22941154	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-06-0744-01	TCGA-06-0744-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000596209.1:c.1557G>C	p.Lys519Asn	p.K519N	ENST00000596209	NM_001080409.2	519	aaG/aaC	0			1			G	K/N	uc010xrh.1	protein_coding	YES	CCDS59369.1			1557/2595									ovary(1)|skin(1)	2	c.(1282-1284)AAG>AAC			Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24375:SF102,hmmpanther:PTHR24375,PROSITE_profiles:PS50157	zinc finger protein 99				ENSP00000472969		4-Apr									COSM1494171	4-Apr	.		ENST00000596209	Transcript						ENSG00000213973	g.chr19:22941154C>G	13175			MODERATE		1.03	low	getma.org/?cm=msa&ty=f&p=ZNF99_HUMAN&rb=402&re=431&var=K428N	NA	getma.org/?cm=var&var=hg19,19,22941154,C,G&fts=all	K428N	--	--	1																																			1	1		benign(0.012)	p.K428N	NM_001080409	NP_001073878		tolerated(1)	1		ZNF99	HGNC					M0R335_HUMAN		5	1284	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)	UPI0000426011						SNV	ZNF99,missense_variant,p.Lys428Asn,ENST00000397104,;ZNF99,missense_variant,p.Lys519Asn,ENST00000596209,NM_001080409.2;CTC-451A6.4,upstream_gene_variant,,ENST00000442497,;	uc010xrh.1	c.1284G>C	1648/2686	3	3			c.1284G>C						19	SNP	c.(1282-1284)AAG>AAC	64	64			ovary(1)|skin(1)	2	Broad	zinc finger protein 99			22941154		0.353	ENSG00000213973	17929	g.chr19:22941154C>G										-16.765637	KEEP	3	0	-1	68	34	3	0	-1	6.337108	68	34	0.03125	1	0	0	0	0	1	0	0	0	--	--		0	G				66	GBM-06-0744-TP	p.K428N	C	CTGAGAAATGCTTAAAAGCTT	NM_001080409	NP_001073878	22941154			0			5	1284	-	G	G		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)	Missense_Mutation							
ZNF99	7652	broad.mit.edu	GRCh37	19	22941588	22941588	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01	TCGA-06-5859-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000596209.1:c.1123G>A	p.Gly375Ser	p.G375S	ENST00000596209	NM_001080409.2	375	Ggc/Agc	0	T:0.0017	T:0.0015	1	T:0		T	G/S	uc010xrh.1	protein_coding	YES	CCDS59369.1			1123/2595									ovary(1)|skin(1)	2	c.(850-852)GGC>AGC			Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,hmmpanther:PTHR24375:SF102,hmmpanther:PTHR24375,PROSITE_profiles:PS50157	zinc finger protein 99		T:0	T:0.0005	ENSP00000472969	T:0.001	4-Apr	0.000306	0.00144	0.000519			0.00021	0.00222	6.07E-05	rs200740712,COSM3404045	4-Apr	common_variant		ENST00000596209	Transcript		T:0.0006				ENSG00000213973	g.chr19:22941588C>T	13175			MODERATE		0.92	low	getma.org/?cm=msa&ty=f&p=ZNF99_HUMAN&rb=244&re=309&var=G284S	getma.org/pdb.php?prot=ZNF99_HUMAN&from=264&to=289&var=G284S	getma.org/?cm=var&var=hg19,19,22941588,C,T&fts=all	G284S	--	--	1																																			0,1	1		benign(0.223)	p.G284S	NM_001080409	NP_001073878	T:0	deleterious(0.03)	0,1		ZNF99	HGNC					M0R335_HUMAN		5	850	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)	UPI0000426011						SNV	ZNF99,missense_variant,p.Gly284Ser,ENST00000397104,;ZNF99,missense_variant,p.Gly375Ser,ENST00000596209,NM_001080409.2;CTC-451A6.4,upstream_gene_variant,,ENST00000442497,;	uc010xrh.1	c.850G>A	1214/2686	2	2			c.850G>A						19	SNP	c.(850-852)GGC>AGC	26	26			ovary(1)|skin(1)	2	Broad	zinc finger protein 99			22941588		0.368	ENSG00000213973	17929	g.chr19:22941588C>T										90.066297	KEEP	17	14	-1	35	41	17	14	-1	92.772717	35	41	0.319149	1	0	0	0	0	1	0	0	0	--	--		0	T				103	GBM-06-5859-TP	p.G284S	C	AAAGCTTTGCCGCATTCTTCA	NM_001080409	NP_001073878	22941588			0			5	850	-	T	T		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)	Missense_Mutation							
ZNF99	0	broad.mit.edu	GRCh37	19	22940690	22940690	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-26-6174-01	TCGA-26-6174-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000596209.1:c.2021A>G	p.Glu674Gly	p.E674G	ENST00000596209	NM_001080409.2	674	gAg/gGg	0			1			C	E/G	uc010xrh.1	protein_coding	YES	CCDS59369.1			2021/2595									ovary(1)|skin(1)	2	c.(1747-1749)GAG>GGG			Superfamily_domains:SSF57667,Pfam_domain:PF13465,Gene3D:3.30.160.60,hmmpanther:PTHR24375:SF102,hmmpanther:PTHR24375,PROSITE_profiles:PS50157	zinc finger protein 99				ENSP00000472969		4-Apr	8.25E-06				0.000151				rs753263094,COSM3404042	4-Apr	.		ENST00000596209	Transcript						ENSG00000213973	g.chr19:22940690T>C	13175			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=ZNF99_HUMAN&rb=552&re=617&var=E583G	getma.org/pdb.php?prot=ZNF99_HUMAN&from=572&to=597&var=E583G	getma.org/?cm=var&var=hg19,19,22940690,T,C&fts=all	E583G	--	--	1																																			0,1	1		probably_damaging(0.998)	p.E583G	NM_001080409	NP_001073878		deleterious(0.01)	0,1		ZNF99	HGNC					M0R335_HUMAN		5	1748	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)	UPI0000426011						SNV	ZNF99,missense_variant,p.Glu583Gly,ENST00000397104,;ZNF99,missense_variant,p.Glu674Gly,ENST00000596209,NM_001080409.2;CTC-451A6.4,upstream_gene_variant,,ENST00000442497,;	uc010xrh.1	c.1748A>G	2112/2686	3	3			c.1748A>G						19	SNP	c.(1747-1749)GAG>GGG	62	62			ovary(1)|skin(1)	2	Broad	zinc finger protein 99			22940690		0.358	ENSG00000213973	17929	g.chr19:22940690T>C										37.307319	KEEP	7	8	-1	35	28	7	8	-1	43.784492	35	28	0.191781	1	0	0	0	0	1	0	0	0	--	--		0	C				188	GBM-26-6174-TP	p.E583G	T	GTAGGGTTTCTCTTCAGTATG	NM_001080409	NP_001073878	22940690			0			5	1748	-	C	C		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)	Missense_Mutation							
ZNF99	7652		GRCh37	19	22941396	22941396	+	missense_variant	Missense_Mutation	SNP	C	C	A			TCGA-14-0862-01	TCGA-14-0862-01																				ENST00000596209.1:c.1315G>T	p.Ala439Ser	p.A439S	ENST00000596209	NM_001080409.2	439	Gcc/Tcc	0																																																																																																																																																																																																																																												
ZNFX1	0	broad.mit.edu	GRCh37	20	47887010	47887010	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-32-1970-01	TCGA-32-1970-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000371752.1:c.1339C>T	p.Arg447Ter	p.R447*	ENST00000371752		447	Cga/Tga	0			1			A	R/*	uc002xui.2	protein_coding		CCDS13417.1			1339/5757									ovary(2)	2	c.(1339-1341)CGA>TGA			hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF341	zinc finger, NFX1-type containing 1				ENSP00000360817		14-Mar									COSM1737624,COSM1737625,COSM1737626,COSM1737627	14-Mar	.		ENST00000371752	Transcript					metal ion binding	ENSG00000124201	g.chr20:47887010G>A	29271			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,20,47887010,G,A&fts=all	R447*	--	--	1																																			1,1,1,1				p.R447*	NM_021035	NP_066363			1,1,1,1	ZNFX1_HUMAN	ZNFX1	HGNC	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Q5JXR5_HUMAN		3	1586	-			UPI000012DD83	447					SNV	ZNFX1,stop_gained,p.Arg447Ter,ENST00000396105,NM_021035.2;ZNFX1,stop_gained,p.Arg447Ter,ENST00000371752,;ZNFX1,stop_gained,p.Arg447Ter,ENST00000371754,;ZNFX1,stop_gained,p.Arg447Ter,ENST00000371744,;ZNFX1,stop_gained,p.Arg251Ter,ENST00000455070,;	uc002xui.2	c.1339C>T	1424/7212	5	2			c.1339C>T						20	SNP	c.(1339-1341)CGA>TGA	22	22			ovary(2)	2	Broad	zinc finger, NFX1-type containing 1			47887010		0.468	ENSG00000124201	17930	g.chr20:47887010G>A			metal ion binding							139.197233	KEEP	33	31	-1	118	150	33	31	-1	165.128472	118	150	0.2	1	0	0	0	0	0	1	0	0	--	--		0	A				228	GBM-32-1970-TP	p.R447*	G	TAGAGCAATCGTTTGGAATTC	NM_021035	NP_066363	47887010	Q9P2E3	ZNFX1_HUMAN	0	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		3	1586	-	A	A			Nonsense_Mutation	447						
ZNHIT6	54680	broad.mit.edu	GRCh37	1	86173500	86173504	+	frameshift_variant	Frame_Shift_Del	DEL	CTTCT	CTTCT	-			TCGA-06-5408-01	TCGA-06-5408-01	CTTCT	CTTCT							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370574.3:c.464_468del	p.Glu155GlyfsTer2	p.E155Gfs*2	ENST00000370574		155	gAGAAG/g	0			1			-	EK/X	uc001dlh.2	protein_coding	YES	CCDS707.1			464-468/1413									large_intestine(1)	1	c.(463-468)GAGAAGfs			hmmpanther:PTHR13483,hmmpanther:PTHR13483:SF3	zinc finger, HIT type 6				ENSP00000359606		10-Jan										10-Jan	.		ENST00000370574	Transcript			box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding	ENSG00000117174	g.chr1:86173500_86173504delCTTCT	26089			HIGH								--	--	1																																		ZNHIT6_uc010osc.1_Frame_Shift_Del_p.E116fs		1			p.E155fs	NM_017953	NP_060423				BCD1_HUMAN	ZNHIT6	HGNC	Q9NWK9	BCD1_HUMAN					1	598_602	-			UPI000006D8D2	155_156			Glu-rich.		deletion	ZNHIT6,frameshift_variant,p.Glu116GlyfsTer2,ENST00000431532,NM_001170670.1,NM_017953.3;ZNHIT6,frameshift_variant,p.Glu155GlyfsTer2,ENST00000370574,;	uc001dlh.2	c.464_468delAGAAG	598-602/2797	5	5			c.464_468delAGAAG						1	DEL	c.(463-468)GAGAAGfs	16	16			large_intestine(1)	1	Broad	zinc finger, HIT type 6			86173504		0.41	ENSG00000117174	17934	g.chr1:86173500_86173504delCTTCT	box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding																				0.02	1	1	0	1	0	0	0	0	0	--	--		0	-			ZNHIT6_uc010osc.1_Frame_Shift_Del_p.E116fs	92	GBM-06-5408-TP	p.E155fs	CTTCT	CCAAGTTATCCTTCTCTTCCTTCAC	NM_017953	NP_060423	86173500	Q9NWK9	BCD1_HUMAN	0			1	598_602	-	-	-			Frame_Shift_Del	155_156			Glu-rich.			
ZNHIT6	0	broad.mit.edu	GRCh37	1	86172017	86172017	+	missense_variant	Missense_Mutation	SNP	G	G	C			TCGA-14-3476-01	TCGA-14-3476-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370574.3:c.744C>G	p.His248Gln	p.H248Q	ENST00000370574		248	caC/caG	0			1			C	H/Q	uc001dlh.2	protein_coding	YES	CCDS707.1			744/1413									large_intestine(1)	1	c.(742-744)CAC>CAG			PROSITE_profiles:PS51083,hmmpanther:PTHR13483,hmmpanther:PTHR13483:SF3,Superfamily_domains:SSF144232	zinc finger, HIT type 6				ENSP00000359606		10-Mar									COSM3401057	10-Mar	.		ENST00000370574	Transcript			box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding	ENSG00000117174	g.chr1:86172017G>C	26089			MODERATE		2.56	medium	getma.org/?cm=msa&ty=f&p=BCD1_HUMAN&rb=247&re=446&var=H248Q	NA	getma.org/?cm=var&var=hg19,1,86172017,G,C&fts=all	H248Q	--	--	1																																		ZNHIT6_uc010osc.1_Missense_Mutation_p.H209Q	1	1		probably_damaging(0.996)	p.H248Q	NM_017953	NP_060423		deleterious(0)	1	BCD1_HUMAN	ZNHIT6	HGNC	Q9NWK9	BCD1_HUMAN					3	878	-			UPI000006D8D2	248			HIT-type.		SNV	ZNHIT6,missense_variant,p.His209Gln,ENST00000431532,NM_001170670.1,NM_017953.3;ZNHIT6,missense_variant,p.His248Gln,ENST00000370574,;	uc001dlh.2	c.744C>G	878/2797	4	4			c.744C>G						1	SNP	c.(742-744)CAC>CAG	46	46			large_intestine(1)	1	Broad	zinc finger, HIT type 6			86172017		0.353	ENSG00000117174	17934	g.chr1:86172017G>C	box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding							-6.231312	KEEP	0	3	-1	21	39	0	3	-1	7.217273	21	39	0.048387	1	0	0	0	0	1	0	0	0	--	--		0	C			ZNHIT6_uc010osc.1_Missense_Mutation_p.H209Q	151	GBM-14-3476-TP	p.H248Q	G	GTTCTGCTTTGTGTTTCTTTA	NM_017953	NP_060423	86172017	Q9NWK9	BCD1_HUMAN	0			3	878	-	C	C			Missense_Mutation	248			HIT-type.			
ZNRF1	84937	broad.mit.edu	GRCh37	16	75140419	75140419	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	rs141362193	byFrequency	TCGA-06-0190-01	TCGA-06-0190-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000335325.4:c.667del	p.Glu223AsnfsTer35	p.E223Nfs*35	ENST00000335325	NM_032268.4	222	ccG/cc	0			1			-	P/X	uc002fdk.2	protein_coding	YES	CCDS10912.1			666/684										0	c.(664-666)CCGfs			PROSITE_profiles:PS50089,hmmpanther:PTHR22764,hmmpanther:PTHR22764:SF62,Pfam_domain:PF13639,Gene3D:3.30.40.10,SMART_domains:SM00184,Superfamily_domains:SSF57850	zinc and ring finger protein 1				ENSP00000335091		5-Apr										5-Apr	.		ENST00000335325	Transcript				cell junction|endosome|lysosome|synaptic vesicle membrane	ligase activity|protein binding|zinc ion binding	ENSG00000186187	g.chr16:75140419delG	18452	1		HIGH								--	--	1																																		ZNRF1_uc002fdl.1_Frame_Shift_Del_p.P222fs|ZNRF1_uc010cgr.1_Frame_Shift_Del_p.P273fs		1			p.P222fs	NM_032268	NP_115644				ZNRF1_HUMAN	ZNRF1	HGNC	Q8ND25	ZNRF1_HUMAN			J3KTB9_HUMAN		4	1321	+			UPI0000037DAA	222			RING-type; atypical.		deletion	ZNRF1,frameshift_variant,p.Glu223AsnfsTer35,ENST00000335325,NM_032268.4;ZNRF1,frameshift_variant,p.Glu274AsnfsTer35,ENST00000320619,;ZNRF1,frameshift_variant,p.Glu223AsnfsTer61,ENST00000567962,;ZNRF1,intron_variant,,ENST00000568351,;ZNRF1,downstream_gene_variant,,ENST00000566250,;ZNRF1,downstream_gene_variant,,ENST00000568511,;RP11-252E2.1,downstream_gene_variant,,ENST00000499110,;ZNRF1,non_coding_transcript_exon_variant,,ENST00000564320,;ZNRF1,downstream_gene_variant,,ENST00000579084,;ZNRF1,non_coding_transcript_exon_variant,,ENST00000568844,;ZNRF1,non_coding_transcript_exon_variant,,ENST00000566244,;ZNRF1,non_coding_transcript_exon_variant,,ENST00000568494,;	uc002fdk.2	c.666delG	1308/4620	5	5			c.666delG						16	DEL	c.(664-666)CCGfs	32	32				0	Broad	zinc and ring finger protein 1			75140419		0.612	ENSG00000186187	17936	g.chr16:75140419delG		cell junction|endosome|lysosome|synaptic vesicle membrane	ligase activity|protein binding|zinc ion binding																				0.09	1	1	0	1	0	0	0	0	0	--	--		0	-			ZNRF1_uc002fdl.1_Frame_Shift_Del_p.P222fs|ZNRF1_uc010cgr.1_Frame_Shift_Del_p.P273fs	43	GBM-06-0190-TP	p.P222fs	G	GATCTTGTCCGGAACACCCTG	NM_032268	NP_115644	75140419	Q8ND25	ZNRF1_HUMAN	0			4	1321	+	-	-			Frame_Shift_Del	222			RING-type; atypical.			
ZP1	0	broad.mit.edu	GRCh37	11	60637220	60637220	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-27-1838-01	TCGA-27-1838-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000278853.5:c.529C>G	p.His177Asp	p.H177D	ENST00000278853	NM_207341.2	177	Cat/Gat	0			1			G	H/D	uc001nqd.2	protein_coding	YES	CCDS31572.1			529/1917										0	c.(529-531)CAT>GAT			hmmpanther:PTHR23343,hmmpanther:PTHR23343:SF41	zona pellucida glycoprotein 1 precursor				ENSP00000278853		12-Mar									COSM3397952	12-Mar	.		ENST00000278853	Transcript	1		single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		ENSG00000149506	g.chr11:60637220C>G	13187			MODERATE		1.39	low	getma.org/?cm=msa&ty=f&p=ZP1_HUMAN&rb=1&re=200&var=H177D	NA	getma.org/?cm=var&var=hg19,11,60637220,C,G&fts=all	H177D	--	--	1																																		ZP1_uc001nqe.2_5'Flank	1	1		benign(0.142)	p.H177D	NM_207341	NP_997224		tolerated(0.11)	1	ZP1_HUMAN	ZP1	HGNC	P60852	ZP1_HUMAN					3	549	+			UPI0000351AA0	177			Extracellular (Potential).		SNV	ZP1,missense_variant,p.His177Asp,ENST00000278853,NM_207341.2;ZP1,intron_variant,,ENST00000540908,;ZP1,upstream_gene_variant,,ENST00000537203,;ZP1,upstream_gene_variant,,ENST00000543020,;ZP1,upstream_gene_variant,,ENST00000542971,;	uc001nqd.2	c.529C>G	529/1954	4	4			c.529C>G						11	SNP	c.(529-531)CAT>GAT	26	26				0	Broad	zona pellucida glycoprotein 1 precursor			60637220		0.627	ENSG00000149506	17940	g.chr11:60637220C>G	single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix								16.59434	KEEP	5	5	-1	39	42	5	5	-1	26.861198	39	42	0.12987	1	0	0	0	0	1	0	0	0	--	--		0	G			ZP1_uc001nqe.2_5'Flank	197	GBM-27-1838-TP	p.H177D	C	AGGCTCTGGCCATGCCTTTCC	NM_207341	NP_997224	60637220	P60852	ZP1_HUMAN	0			3	549	+	G	G			Missense_Mutation	177			Extracellular (Potential).			
ZP2	0	broad.mit.edu	GRCh37	16	21213466	21213466	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01	TCGA-14-0789-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000574002.1:c.1246C>T	p.Arg416Trp	p.R416W	ENST00000574002		416	Cgg/Tgg	0			1			A	R/W	uc002dii.2	protein_coding	YES	CCDS10596.1			1246/2238									central_nervous_system(2)|ovary(1)	3	c.(1246-1248)CGG>TGG			Pfam_domain:PF00100,PROSITE_profiles:PS51034,hmmpanther:PTHR23343,hmmpanther:PTHR23343:SF4,SMART_domains:SM00241	zona pellucida glycoprotein 2 preproprotein				ENSP00000460971		20-Dec	7.41E-05	9.61E-05		0.000116		9.01E-05		6.11E-05	rs766836952,COSM1563198	20-Dec	.		ENST00000574002	Transcript			binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	ENSG00000103310	g.chr16:21213466G>A	13188			MODERATE		1.155	low	getma.org/?cm=msa&ty=f&p=ZP2_HUMAN&rb=371&re=637&var=R416W	NA	getma.org/?cm=var&var=hg19,16,21213466,G,A&fts=all	R416W	--	--	1																																		ZP2_uc010bwn.1_Missense_Mutation_p.R455W	0,1	1		benign(0.168)	p.R416W	NM_003460	NP_003451		tolerated(0.18)	0,1	ZP2_HUMAN	ZP2	HGNC	Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)			11	1246	-			UPI000013C45C	416			Extracellular (Potential).|ZP.		SNV	ZP2,missense_variant,p.Arg416Trp,ENST00000574002,;ZP2,missense_variant,p.Arg416Trp,ENST00000219593,NM_003460.1;ZP2,missense_variant,p.Arg416Trp,ENST00000574091,;AF001550.7,intron_variant,,ENST00000572747,;ZP2,non_coding_transcript_exon_variant,,ENST00000573114,;ZP2,downstream_gene_variant,,ENST00000576162,;ZP2,downstream_gene_variant,,ENST00000572752,;	uc002dii.2	c.1246C>T	1729/2749	1	1			c.1246C>T						16	SNP	c.(1246-1248)CGG>TGG	60	60			central_nervous_system(2)|ovary(1)	3	Broad	zona pellucida glycoprotein 2 preproprotein			21213466		0.507	ENSG00000103310	17941	g.chr16:21213466G>A	binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity							49.428613	KEEP	14	13	-1	39	49	14	13	-1	54.561895	39	49	0.244186	1	0	0	0	0	1	0	0	0	--	--		0	A			ZP2_uc010bwn.1_Missense_Mutation_p.R455W	136	GBM-14-0789-TP	p.R416W	G	ATGTGGAACCGTACCAGCCCC	NM_003460	NP_003451	21213466	Q05996	ZP2_HUMAN	0		GBM - Glioblastoma multiforme(48;0.0573)	11	1246	-	A	A			Missense_Mutation	416			Extracellular (Potential).|ZP.			
ZP2	7783		GRCh37	16	21216830	21216830	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01	TCGA-76-6663-01																				ENST00000574002.1:c.604G>A	p.Ala202Thr	p.A202T	ENST00000574002		202	Gcc/Acc	0																																																																																																																																																																																																																																												
ZP3	7784		GRCh37	7	76054396	76054396	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-74-6577-01	TCGA-74-6577-01																				ENST00000394857.3:c.115G>A	p.Val39Ile	p.V39I	ENST00000394857	NM_001110354.1	39	Gta/Ata	0																																																																																																																																																																																																																																												
ZP4	0	broad.mit.edu	GRCh37	1	238048807	238048807	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-32-2638-01	TCGA-32-2638-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366570.4:c.1044G>C	p.Val348=	p.V348=	ENST00000366570	NM_021186.3	348	gtG/gtC	0			1			G	V	uc001hym.2	protein_coding	YES	CCDS1615.1			1044/1623									ovary(2)|skin(1)	3	c.(1042-1044)GTG>GTC			SMART_domains:SM00241,Pfam_domain:PF00100,PROSITE_patterns:PS00682,hmmpanther:PTHR23343,hmmpanther:PTHR23343:SF31,PROSITE_profiles:PS51034	zona pellucida glycoprotein 4 preproprotein				ENSP00000355529		12-Aug									COSM3400543	12-Aug	.		ENST00000366570	Transcript			acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	ENSG00000116996	g.chr1:238048807C>G	15770			LOW								--	--	1																																		LOC100130331_uc010pyc.1_Intron	1	1			p.V348V	NM_021186	NP_067009			1	ZP4_HUMAN	ZP4	HGNC	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)				8	1044	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	UPI000006F0E4	348			ZP.|Extracellular (Potential).		SNV	ZP4,synonymous_variant,p.=,ENST00000366570,NM_021186.3;RP11-193H5.1,intron_variant,,ENST00000450451,;	uc001hym.2	c.1044G>C	1203/1799	4	4			c.1044G>C						1	SNP	c.(1042-1044)GTG>GTC	28	28			ovary(2)|skin(1)	3	Broad	zona pellucida glycoprotein 4 preproprotein			238048807		0.522	ENSG00000116996	17943	g.chr1:238048807C>G	acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	NSCLC(166;160 2029 11600 18754 19936)			NSCLC(166;160 2029 11600 18754 19936)			95.474634	KEEP	19	15	-1	31	28	19	15	-1	96.811988	31	28	0.367816	1	0	0	0	0	0	0	1	0	--	--		0	G			LOC100130331_uc010pyc.1_Intron	242	GBM-32-2638-TP	p.V348V	C	TGGAGACCTCCACGTAAATGG	NM_021186	NP_067009	238048807	Q12836	ZP4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		8	1044	-	G	G	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	Silent	348			ZP.|Extracellular (Potential).			
ZP4	0	broad.mit.edu	GRCh37	1	238050695	238050695	+	synonymous_variant	Silent	SNP	A	A	G			TCGA-76-4931-01	TCGA-76-4931-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366570.4:c.720T>C	p.Thr240=	p.T240=	ENST00000366570	NM_021186.3	240	acT/acC	0			1			G	T	uc001hym.2	protein_coding	YES	CCDS1615.1			720/1623									ovary(2)|skin(1)	3	c.(718-720)ACT>ACC			Prints_domain:PR00023,SMART_domains:SM00241,Pfam_domain:PF00100,hmmpanther:PTHR23343,hmmpanther:PTHR23343:SF31,PROSITE_profiles:PS51034	zona pellucida glycoprotein 4 preproprotein				ENSP00000355529		12-May									COSM3400544	12-May	.		ENST00000366570	Transcript			acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	ENSG00000116996	g.chr1:238050695A>G	15770			LOW								--	--	1																																		LOC100130331_uc010pyc.1_Intron	1	1			p.T240T	NM_021186	NP_067009			1	ZP4_HUMAN	ZP4	HGNC	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)				5	720	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	UPI000006F0E4	240			ZP.|Extracellular (Potential).		SNV	ZP4,synonymous_variant,p.=,ENST00000366570,NM_021186.3;RP11-193H5.1,intron_variant,,ENST00000450451,;	uc001hym.2	c.720T>C	879/1799	3	3			c.720T>C						1	SNP	c.(718-720)ACT>ACC	8	8			ovary(2)|skin(1)	3	Broad	zona pellucida glycoprotein 4 preproprotein			238050695		0.502	ENSG00000116996	17943	g.chr1:238050695A>G	acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	NSCLC(166;160 2029 11600 18754 19936)			NSCLC(166;160 2029 11600 18754 19936)			275.601776	KEEP	33	53	-1	66	67	33	53	-1	277.43924	66	67	0.394737	1	0	0	0	0	0	0	1	0	--	--		0	G			LOC100130331_uc010pyc.1_Intron	270	GBM-76-4931-TP	p.T240T	A	TGCCACAGGAAGTAAATGGAA	NM_021186	NP_067009	238050695	Q12836	ZP4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	720	-	G	G	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	Silent	240			ZP.|Extracellular (Potential).			
ZP4	0	broad.mit.edu	GRCh37	1	238048511	238048511	+	missense_variant	Missense_Mutation	SNP	A	A	C			TCGA-87-5896-01	TCGA-87-5896-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000366570.4:c.1265T>G	p.Phe422Cys	p.F422C	ENST00000366570	NM_021186.3	422	tTc/tGc	0			1			C	F/C	uc001hym.2	protein_coding	YES	CCDS1615.1			1265/1623									ovary(2)|skin(1)	3	c.(1264-1266)TTC>TGC			SMART_domains:SM00241,Pfam_domain:PF00100,hmmpanther:PTHR23343,hmmpanther:PTHR23343:SF31,PROSITE_profiles:PS51034	zona pellucida glycoprotein 4 preproprotein				ENSP00000355529		12-Sep									COSM3400542	12-Sep	.		ENST00000366570	Transcript			acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	ENSG00000116996	g.chr1:238048511A>C	15770			MODERATE		3.595	high	getma.org/?cm=msa&ty=f&p=ZP4_HUMAN&rb=188&re=462&var=F422C	getma.org/pdb.php?prot=ZP4_HUMAN&from=188&to=462&var=F422C	getma.org/?cm=var&var=hg19,1,238048511,A,C&fts=all	F422C	--	--	1																																		LOC100130331_uc010pyc.1_Intron	1	1		probably_damaging(1)	p.F422C	NM_021186	NP_067009		deleterious(0)	1	ZP4_HUMAN	ZP4	HGNC	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)				9	1265	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	UPI000006F0E4	422			ZP.|Extracellular (Potential).		SNV	ZP4,missense_variant,p.Phe422Cys,ENST00000366570,NM_021186.3;RP11-193H5.1,intron_variant,,ENST00000450451,;	uc001hym.2	c.1265T>G	1424/1799	3	3			c.1265T>G						1	SNP	c.(1264-1266)TTC>TGC	55	55			ovary(2)|skin(1)	3	Broad	zona pellucida glycoprotein 4 preproprotein			238048511		0.537	ENSG00000116996	17943	g.chr1:238048511A>C	acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	NSCLC(166;160 2029 11600 18754 19936)			NSCLC(166;160 2029 11600 18754 19936)			92.802651	KEEP	11	15	-1	13	18	11	15	-1	92.817284	13	18	0.480769	1	0	0	0	0	1	0	0	0	--	--		0	C			LOC100130331_uc010pyc.1_Intron	291	GBM-87-5896-TP	p.F422C	A	CACAAAGCTGAAGGTGAAGAT	NM_021186	NP_067009	238048511	Q12836	ZP4_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		9	1265	-	C	C	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	Missense_Mutation	422			ZP.|Extracellular (Potential).			
ZPBP	11055	broad.mit.edu	GRCh37	7	50121433	50121433	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-06-2563-01	TCGA-06-2563-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000046087.2:c.271C>T	p.Arg91Ter	p.R91*	ENST00000046087	NM_007009.2	91	Cga/Tga	0		A:0	1	A:0		A	R/*	uc003tou.2	protein_coding	YES	CCDS5509.1			271/1056										0	c.(271-273)CGA>TGA			Pfam_domain:PF07354,PROSITE_profiles:PS50835,hmmpanther:PTHR15443,hmmpanther:PTHR15443:SF5	zona pellucida binding protein isoform 1		A:0		ENSP00000046087	A:0.001	8-Mar	1.65E-05					3.01E-05			rs201826735,COSM2152899	8-Mar	.		ENST00000046087	Transcript		A:0.0002	binding of sperm to zona pellucida	extracellular region		ENSG00000042813	g.chr7:50121433G>A	15662			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,7,50121433,G,A&fts=all	R91*	--	--	1																																		ZPBP_uc011kci.1_Nonsense_Mutation_p.R17*|ZPBP_uc010kyw.2_Nonsense_Mutation_p.R91*	0,1	1			p.R91*	NM_007009	NP_008940	A:0		0,1	ZPBP1_HUMAN	ZPBP	HGNC	Q9BS86	ZPBP1_HUMAN					3	341	-	Glioma(55;0.08)|all_neural(89;0.245)		UPI0000073BD0	91					SNV	ZPBP,stop_gained,p.Arg91Ter,ENST00000046087,NM_007009.2,NM_001159878.1;ZPBP,stop_gained,p.Arg91Ter,ENST00000419417,;ZPBP,stop_gained,p.Arg52Ter,ENST00000450231,;ZPBP,downstream_gene_variant,,ENST00000413331,;	uc003tou.2	c.271C>T	341/1213	5	1			c.271C>T						7	SNP	c.(271-273)CGA>TGA	51	51				0	Broad	zona pellucida binding protein isoform 1			50121433		0.338	ENSG00000042813	17944	g.chr7:50121433G>A	binding of sperm to zona pellucida	extracellular region								175.251002	KEEP	32	35	-1	59	59	32	35	-1	178.492232	59	59	0.352941	1	0	0	0	0	0	1	0	0	--	--		0	A			ZPBP_uc011kci.1_Nonsense_Mutation_p.R17*|ZPBP_uc010kyw.2_Nonsense_Mutation_p.R91*	86	GBM-06-2563-TP	p.R91*	G	TCAGCATTTCGCAGTTGTTGC	NM_007009	NP_008940	50121433	Q9BS86	ZPBP1_HUMAN	0			3	341	-	A	A	Glioma(55;0.08)|all_neural(89;0.245)		Nonsense_Mutation	91						
ZPBP	0	broad.mit.edu	GRCh37	7	50097662	50097662	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-12-0619-01	TCGA-12-0619-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000046087.2:c.410T>C	p.Ile137Thr	p.I137T	ENST00000046087	NM_007009.2	137	aTt/aCt	0			1			G	I/T	uc003tou.2	protein_coding	YES	CCDS5509.1			410/1056										0	c.(409-411)ATT>ACT			Gene3D:2.60.40.10,Pfam_domain:PF07354,PROSITE_profiles:PS50835,hmmpanther:PTHR15443,hmmpanther:PTHR15443:SF5,Superfamily_domains:SSF48726	zona pellucida binding protein isoform 1				ENSP00000046087		8-Apr									COSM2153635	8-Apr	.		ENST00000046087	Transcript			binding of sperm to zona pellucida	extracellular region		ENSG00000042813	g.chr7:50097662A>G	15662			MODERATE		0	neutral	getma.org/?cm=msa&ty=f&p=ZPBP1_HUMAN&rb=86&re=351&var=I137T	NA	getma.org/?cm=var&var=hg19,7,50097662,A,G&fts=all	I137T	--	--	1																																		ZPBP_uc011kci.1_Missense_Mutation_p.I63T|ZPBP_uc010kyw.2_Missense_Mutation_p.I136T	1	1		benign(0.186)	p.I137T	NM_007009	NP_008940		tolerated(0.07)	1	ZPBP1_HUMAN	ZPBP	HGNC	Q9BS86	ZPBP1_HUMAN					4	480	-	Glioma(55;0.08)|all_neural(89;0.245)		UPI0000073BD0	137					SNV	ZPBP,missense_variant,p.Ile137Thr,ENST00000046087,NM_007009.2,NM_001159878.1;ZPBP,missense_variant,p.Ile136Thr,ENST00000419417,;ZPBP,upstream_gene_variant,,ENST00000491129,;	uc003tou.2	c.410T>C	480/1213	3	3			c.410T>C						7	SNP	c.(409-411)ATT>ACT	49	49				0	Broad	zona pellucida binding protein isoform 1			50097662		0.333	ENSG00000042813	17944	g.chr7:50097662A>G	binding of sperm to zona pellucida	extracellular region								106.202194	KEEP	17	16	-1	68	61	17	16	-1	115.884703	68	61	0.229167	1	0	0	0	0	1	0	0	0	--	--		0	G			ZPBP_uc011kci.1_Missense_Mutation_p.I63T|ZPBP_uc010kyw.2_Missense_Mutation_p.I136T	120	GBM-12-0619-TP	p.I137T	A	ACATGTATAAATTCCACTCAT	NM_007009	NP_008940	50097662	Q9BS86	ZPBP1_HUMAN	0			4	480	-	G	G	Glioma(55;0.08)|all_neural(89;0.245)		Missense_Mutation	137						
ZPBP	0	broad.mit.edu	GRCh37	7	50097645	50097645	+	missense_variant	Missense_Mutation	SNP	C	C	T	rs148913753		TCGA-14-0790-01	TCGA-14-0790-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000046087.2:c.427G>A	p.Glu143Lys	p.E143K	ENST00000046087	NM_007009.2	143	Gaa/Aaa	0	T:0.0002		1			T	E/K	uc003tou.2	protein_coding	YES	CCDS5509.1			427/1056										0	c.(427-429)GAA>AAA			Gene3D:2.60.40.10,Pfam_domain:PF07354,PROSITE_profiles:PS50835,hmmpanther:PTHR15443,hmmpanther:PTHR15443:SF5,Superfamily_domains:SSF48726	zona pellucida binding protein isoform 1			T:0	ENSP00000046087		8-Apr	8.24E-06	9.67E-05							rs148913753,COSM3412139	8-Apr	.		ENST00000046087	Transcript			binding of sperm to zona pellucida	extracellular region		ENSG00000042813	g.chr7:50097645C>T	15662			MODERATE		1.79	low	getma.org/?cm=msa&ty=f&p=ZPBP1_HUMAN&rb=86&re=351&var=E143K	NA	getma.org/?cm=var&var=hg19,7,50097645,C,T&fts=all	E143K	--	--	1																																		ZPBP_uc011kci.1_Missense_Mutation_p.E69K|ZPBP_uc010kyw.2_Missense_Mutation_p.E142K	0,1	1		benign(0.016)	p.E143K	NM_007009	NP_008940		tolerated(0.9)	0,1	ZPBP1_HUMAN	ZPBP	HGNC	Q9BS86	ZPBP1_HUMAN					4	497	-	Glioma(55;0.08)|all_neural(89;0.245)		UPI0000073BD0	143					SNV	ZPBP,missense_variant,p.Glu143Lys,ENST00000046087,NM_007009.2,NM_001159878.1;ZPBP,missense_variant,p.Glu142Lys,ENST00000419417,;ZPBP,upstream_gene_variant,,ENST00000491129,;	uc003tou.2	c.427G>A	497/1213	2	2			c.427G>A						7	SNP	c.(427-429)GAA>AAA	41	41				0	Broad	zona pellucida binding protein isoform 1			50097645		0.328	ENSG00000042813	17944	g.chr7:50097645C>T	binding of sperm to zona pellucida	extracellular region								197.726047	KEEP	37	36	-1	90	88	37	36	-1	206.975106	90	88	0.293388	1	0	0	0	0	1	0	0	0	--	--		0	T			ZPBP_uc011kci.1_Missense_Mutation_p.E69K|ZPBP_uc010kyw.2_Missense_Mutation_p.E142K	137	GBM-14-0790-TP	p.E143K	C	GGTTTATATTCGAGGAAACAT	NM_007009	NP_008940	50097645	Q9BS86	ZPBP1_HUMAN	0			4	497	-	T	T	Glioma(55;0.08)|all_neural(89;0.245)		Missense_Mutation	143						
ZPBP	11055		GRCh37	7	50097612	50097612	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01	TCGA-76-6280-01																				ENST00000046087.2:c.460C>T	p.Arg154Cys	p.R154C	ENST00000046087	NM_007009.2	154	Cgt/Tgt	0																																																																																																																																																																																																																																												
ZPBP2	124626	broad.mit.edu	GRCh37	17	38027064	38027064	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01	TCGA-06-5413-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000348931.4:c.236C>T	p.Thr79Met	p.T79M	ENST00000348931	NM_199321.2	79	aCg/aTg	0			1			T	T/M	uc002hte.2	protein_coding	YES	CCDS11352.1			236/1017									ovary(1)	1	c.(235-237)ACG>ATG			PROSITE_profiles:PS50835,hmmpanther:PTHR15443:SF4,hmmpanther:PTHR15443,Gene3D:2.60.40.10,Pfam_domain:PF07354	zona pellucida binding protein 2 isoform 2				ENSP00000335384		8-Mar	4.12E-05					3.02E-05		0.000185	rs768553645,COSM2153209	8-Mar	.		ENST00000348931	Transcript			binding of sperm to zona pellucida	extracellular region		ENSG00000186075	g.chr17:38027064C>T	20678			MODERATE		1.5	low	getma.org/?cm=msa&ty=f&p=ZPBP2_HUMAN&rb=56&re=327&var=T79M	NA	getma.org/?cm=var&var=hg19,17,38027064,C,T&fts=all	T79M	--	--	1																																		ZPBP2_uc002htf.2_Missense_Mutation_p.T57M	0,1	1		benign(0.052)	p.T79M	NM_199321	NP_955353		tolerated(0.29)	0,1	ZPBP2_HUMAN	ZPBP2	HGNC	Q6X784	ZPBP2_HUMAN	Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)				3	389	+	Colorectal(19;0.000442)		UPI00001D79E4	79					SNV	ZPBP2,missense_variant,p.Thr57Met,ENST00000377940,NM_198844.2;ZPBP2,missense_variant,p.Thr79Met,ENST00000348931,NM_199321.2;ZPBP2,missense_variant,p.Thr79Met,ENST00000584588,;ZPBP2,intron_variant,,ENST00000583811,;	uc002hte.2	c.236C>T	427/1543	1	1			c.236C>T						17	SNP	c.(235-237)ACG>ATG	7	7			ovary(1)	1	Broad	zona pellucida binding protein 2 isoform 2			38027064		0.284	ENSG00000186075	17945	g.chr17:38027064C>T	binding of sperm to zona pellucida	extracellular region								45.983961	KEEP	12	9	-1	16	28	12	9	-1	47.984952	16	28	0.296296	1	0	0	0	0	1	0	0	0	--	--		0	T			ZPBP2_uc002htf.2_Missense_Mutation_p.T57M	96	GBM-06-5413-TP	p.T79M	C	AATGAAAAGACGTTAACAGGT	NM_199321	NP_955353	38027064	Q6X784	ZPBP2_HUMAN	0	Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)		3	389	+	T	T	Colorectal(19;0.000442)		Missense_Mutation	79						
ZPLD1	131368	broad.mit.edu	GRCh37	3	102157373	102157373	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-06-2557-01	TCGA-06-2557-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000306176.1:c.90G>A	p.Val30=	p.V30=	ENST00000306176	NM_175056.1	30	gtG/gtA	0			1			A	V	uc003dvs.1	protein_coding					42/1248									ovary(2)|skin(2)|central_nervous_system(1)	5	c.(40-42)GTG>GTA			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR22962:SF1,hmmpanther:PTHR22962	zona pellucida-like domain containing 1				ENSP00000418253		12-Mar									COSM2152569	12-Mar	.		ENST00000466937	Transcript				integral to membrane		ENSG00000170044	g.chr3:102157373G>A	27022			LOW								--	--	1																																		ZPLD1_uc003dvt.1_Silent_p.V30V|ZPLD1_uc011bhg.1_Silent_p.V14V	1				p.V14V	NM_175056	NP_778226			1	ZPLD1_HUMAN	ZPLD1	HGNC	Q8TCW7	ZPLD1_HUMAN					9	924	+			UPI0000209EBE	14					SNV	ZPLD1,synonymous_variant,p.=,ENST00000306176,NM_175056.1;ZPLD1,synonymous_variant,p.=,ENST00000491959,;ZPLD1,synonymous_variant,p.=,ENST00000466937,;	uc003dvs.1	c.42G>A	286/1531	2	2			c.42G>A						3	SNP	c.(40-42)GTG>GTA	29	29			ovary(2)|skin(2)|central_nervous_system(1)	5	Broad	zona pellucida-like domain containing 1			102157373		0.433	ENSG00000170044	17946	g.chr3:102157373G>A		integral to membrane								47.338781	KEEP	9	15	-1	33	29	9	15	-1	50.295102	33	29	0.287671	1	0	0	0	0	0	0	1	0	--	--		0	A			ZPLD1_uc003dvt.1_Silent_p.V30V|ZPLD1_uc011bhg.1_Silent_p.V14V	81	GBM-06-2557-TP	p.V14V	G	CAATTAGAGTGCTTCCGGGGT	NM_175056	NP_778226	102157373	Q8TCW7	ZPLD1_HUMAN	0			9	924	+	A	A			Silent	14						
ZRANB3	84083	broad.mit.edu	GRCh37	2	135960424	135960424	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-0166-01	TCGA-06-0166-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264159.6:c.3119T>C	p.Leu1040Pro	p.L1040P	ENST00000264159	NM_032143.2	1040	cTc/cCc	0			1			G	L/P	uc002tum.2	protein_coding	YES	CCDS46419.1			3119/3240									lung(2)	2	c.(3118-3120)CTC>CCC			Pfam_domain:PF01844,SMART_domains:SM00507	zinc finger, RAN-binding domain containing 3				ENSP00000264159		20/21									COSM2150179,COSM2150178,COSM3406893	20/21	.		ENST00000264159	Transcript				intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	ENSG00000121988	g.chr2:135960424A>G	25249			MODERATE		4.17	high	getma.org/?cm=msa&ty=f&p=ZRAB3_HUMAN&rb=1009&re=1051&var=L1040P	NA	getma.org/?cm=var&var=hg19,2,135960424,A,G&fts=all	L1040P	--	--	1																																		ZRANB3_uc002tuk.2_Missense_Mutation_p.L583P|ZRANB3_uc002tul.2_Missense_Mutation_p.L1038P	1,1,1	1		probably_damaging(1)	p.L1040P	NM_032143	NP_115519		deleterious(0)	1,1,1	ZRAB3_HUMAN	ZRANB3	HGNC	Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)			20	3236	-			UPI0000509F0C	1040					SNV	ZRANB3,missense_variant,p.Leu1038Pro,ENST00000401392,NM_001286568.1;ZRANB3,missense_variant,p.Leu1040Pro,ENST00000264159,NM_032143.2;ZRANB3,missense_variant,p.Leu1038Pro,ENST00000536680,;ZRANB3,non_coding_transcript_exon_variant,,ENST00000412849,;ZRANB3,3_prime_UTR_variant,,ENST00000403017,;ZRANB3,non_coding_transcript_exon_variant,,ENST00000474919,;	uc002tum.2	c.3119T>C	3236/4046	4	4			c.3119T>C						2	SNP	c.(3118-3120)CTC>CCC	30	30			lung(2)	2	Broad	zinc finger, RAN-binding domain containing 3			135960424		0.478	ENSG00000121988	17949	g.chr2:135960424A>G		intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding							13.161885	KEEP	5	1	-1	6	13	5	1	-1	14.480407	6	13	0.238095	1	0	0	0	0	1	0	0	0	--	--		0	G			ZRANB3_uc002tuk.2_Missense_Mutation_p.L583P|ZRANB3_uc002tul.2_Missense_Mutation_p.L1038P	31	GBM-06-0166-TP	p.L1040P	A	GACTGTGCAGAGAGTCTGCAG	NM_032143	NP_115519	135960424	Q5FWF4	ZRAB3_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.135)	20	3236	-	G	G			Missense_Mutation	1040						
ZRANB3	0	broad.mit.edu	GRCh37	2	135958008	135958008	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C			TCGA-76-4932-01	TCGA-76-4932-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000264159.6:c.3144A>G	p.Arg1048=	p.R1048=	ENST00000264159	NM_032143.2	1048	agA/agG	0			1			C	R	uc002tum.2	protein_coding	YES	CCDS46419.1			3144/3240									lung(2)	2	c.(3142-3144)AGA>AGG			Pfam_domain:PF01844	zinc finger, RAN-binding domain containing 3				ENSP00000264159		21/21	2.49E-05					0.000108			rs749658299,COSM3406892,COSM3406890,COSM3406891	21/21	.		ENST00000264159	Transcript				intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	ENSG00000121988	g.chr2:135958008T>C	25249			LOW								--	--	1																																		ZRANB3_uc002tuk.2_Silent_p.R591R|ZRANB3_uc002tul.2_Silent_p.R1046R	0,1,1,1	1			p.R1048R	NM_032143	NP_115519			0,1,1,1	ZRAB3_HUMAN	ZRANB3	HGNC	Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)			21	3261	-			UPI0000509F0C	1048					SNV	ZRANB3,splice_region_variant,p.=,ENST00000401392,NM_001286568.1;ZRANB3,splice_region_variant,p.=,ENST00000264159,NM_032143.2;ZRANB3,splice_region_variant,p.=,ENST00000536680,;ZRANB3,splice_region_variant,,ENST00000412849,;ZRANB3,splice_region_variant,,ENST00000403017,;ZRANB3,downstream_gene_variant,,ENST00000474919,;	uc002tum.2	c.3144A>G	3261/4046	3	3			c.3144A>G						2	SNP	c.(3142-3144)AGA>AGG	58	58			lung(2)	2	Broad	zinc finger, RAN-binding domain containing 3			135958008		0.363	ENSG00000121988	17949	g.chr2:135958008T>C		intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding							47.118287	KEEP	7	9	-1	11	6	7	9	-1	47.126909	11	6	0.482759	1	0	0	0	0	0	0	1	0	--	--		0	C			ZRANB3_uc002tuk.2_Silent_p.R591R|ZRANB3_uc002tul.2_Silent_p.R1046R	271	GBM-76-4932-TP	p.R1048R	T	GTCTGGCAGTTCTCTAAAAGT	NM_032143	NP_115519	135958008	Q5FWF4	ZRAB3_HUMAN	0		BRCA - Breast invasive adenocarcinoma(221;0.135)	21	3261	-	C	C			Silent	1048						
ZRANB3	84083		GRCh37	2	135965224	135965224	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-06-0151-01	TCGA-06-0151-01																				ENST00000264159.6:c.2789C>A	p.Ser930Tyr	p.S930Y	ENST00000264159	NM_032143.2	930	tCt/tAt	0																																																																																																																																																																																																																																												
ZRSR1	0	broad.mit.edu	GRCh37	5	112227799	112227799	+	missense_variant	Missense_Mutation	SNP	A	A	G	rs712665	by1000genomes	TCGA-06-0209-01	TCGA-06-0209-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000391338.1:c.463A>G	p.Ser155Gly	p.S155G	ENST00000391338	NM_001204199.1	155	Agt/Ggt	0		G:0.6831	1	G:0.2867		G	S/G	uc011cvv.1	protein_coding	YES				463/1440										0	c.(538-540)AGT>GGT			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12620,hmmpanther:PTHR12620:SF9	SubName: Full=Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2;		G:0.1815		ENSP00000375133	G:0.3638	1-Jan	0.335	0.631	0.246	0.171	0.361	0.342	0.318	0.258	rs712665,COSM3748284,COSM3748283	1-Jan	common_variant		ENST00000391338	Transcript		G:0.3762	response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding	ENSG00000212643	g.chr5:112227799A>G	12456			MODERATE								--	--	1																																		SRP19_uc011cvu.1_Missense_Mutation_p.S165G|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron	1,1,1	1	24524080	benign(0.001)	p.S180G			G:0.2382	tolerated(1)	0,1,1	U2AFL_HUMAN	ZRSR1	HGNC	P09132	SRP19_HUMAN		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)			4	793	+		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)	UPI0000137928	Error:Variant_position_missing_in_P09132_after_alignment					SNV	ZRSR1,missense_variant,p.Ser155Gly,ENST00000391338,NM_001204199.1;REEP5,intron_variant,,ENST00000379638,NM_005669.4;REEP5,intron_variant,,ENST00000545426,;REEP5,intron_variant,,ENST00000513339,;REEP5,intron_variant,,ENST00000261482,;REEP5,intron_variant,,ENST00000504247,;CTC-487M23.5,upstream_gene_variant,,ENST00000602872,;CTC-487M23.8,non_coding_transcript_exon_variant,,ENST00000512790,;REEP5,intron_variant,,ENST00000474542,;CTC-487M23.8,downstream_gene_variant,,ENST00000503445,;CTC-487M23.8,3_prime_UTR_variant,,ENST00000506997,;REEP5,intron_variant,,ENST00000497856,;REEP5,intron_variant,,ENST00000511865,;CTC-487M23.8,downstream_gene_variant,,ENST00000509024,;	uc011cvv.1	c.538A>G	487/1479	3	3			c.538A>G						5	SNP	c.(538-540)AGT>GGT	14	14				0	Broad	SubName: Full=Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2;			112227799		0.328	ENSG00000212643	14922	g.chr5:112227799A>G	response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding							-4.564141	KEEP	3	5	-1	44	75	3	5	-1	19.134163	44	75	0.059829	1	0	0	0	0	1	0	0	0	--	--		0	G			SRP19_uc011cvu.1_Missense_Mutation_p.S165G|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron	46	GBM-06-0209-TP	p.S180G	A	TTTAGAAAATAGTACCACATG			112227799	P09132	SRP19_HUMAN	0		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)	4	793	+	G	G		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)	Missense_Mutation	Error:Variant_position_missing_in_P09132_after_alignment						
ZRSR2	0	broad.mit.edu	GRCh37	X	15840971	15840971	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01	TCGA-14-0789-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307771.7:c.1055G>A	p.Arg352Gln	p.R352Q	ENST00000307771	NM_005089.3	352	cGg/cAg	0			1			A	R/Q	uc004cxg.3	protein_coding	YES	CCDS14172.1			1055/1449									breast(3)	3	c.(1054-1056)CGG>CAG			hmmpanther:PTHR12620:SF6,hmmpanther:PTHR12620	U2 small nuclear RNA auxiliary factor 1-like 2				ENSP00000303015		11-Nov									COSM3406190	11-Nov	.		ENST00000307771	Transcript			spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding	ENSG00000169249	g.chrX:15840971G>A	23019			MODERATE		2.095	medium	getma.org/?cm=msa&ty=f&p=U2AFM_HUMAN&rb=303&re=392&var=R352Q	NA	getma.org/?cm=var&var=hg19,X,15840971,G,A&fts=all	R352Q	--	--	1																																			1	1		possibly_damaging(0.556)	p.R352Q	NM_005089	NP_005080		tolerated(0.15)	1	U2AFM_HUMAN	ZRSR2	HGNC	Q15696	U2AFM_HUMAN					11	1100	+	Hepatocellular(33;0.183)		UPI0000137929	352					SNV	ZRSR2,missense_variant,p.Arg352Gln,ENST00000307771,NM_005089.3;AP1S2,downstream_gene_variant,,ENST00000329235,NM_003916.4,NM_001272071.1;AP1S2,downstream_gene_variant,,ENST00000452376,;	uc004cxg.3	c.1055G>A	1079/1491	2	2			c.1055G>A						23	SNP	c.(1054-1056)CGG>CAG	41	41			breast(3)	3	Broad	U2 small nuclear RNA auxiliary factor 1-like 2			15840971		0.502	ENSG00000169249	17950	g.chrX:15840971G>A	spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding	NSCLC(197;1631 3042 5741 31152)			NSCLC(197;1631 3042 5741 31152)			146.396053	KEEP	27	27	-1	29	27	27	27	-1	146.43385	29	27	0.478261	1	0	0	0	0	1	0	0	0	--	--		0	A				136	GBM-14-0789-TP	p.R352Q	G	TCTCCAGATCGGACTGGCTCC	NM_005089	NP_005080	15840971	Q15696	U2AFM_HUMAN	0			11	1100	+	A	A	Hepatocellular(33;0.183)		Missense_Mutation	352						
ZRSR2	0	broad.mit.edu	GRCh37	X	15841126	15841126	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307771.7:c.1210G>A	p.Gly404Arg	p.G404R	ENST00000307771	NM_005089.3	404	Ggg/Agg	0			1			A	G/R	uc004cxg.3	protein_coding	YES	CCDS14172.1			1210/1449									breast(3)	3	c.(1210-1212)GGG>AGG			Low_complexity_(Seg):seg,hmmpanther:PTHR12620:SF6,hmmpanther:PTHR12620	U2 small nuclear RNA auxiliary factor 1-like 2				ENSP00000303015		11-Nov									COSM3406191	11-Nov	.		ENST00000307771	Transcript			spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding	ENSG00000169249	g.chrX:15841126G>A	23019			MODERATE		0.895	low	getma.org/?cm=msa&ty=f&p=U2AFM_HUMAN&rb=393&re=480&var=G404R	NA	getma.org/?cm=var&var=hg19,X,15841126,G,A&fts=all	G404R	--	--	1																																			1	1		unknown(0)	p.G404R	NM_005089	NP_005080		tolerated(0.27)	1	U2AFM_HUMAN	ZRSR2	HGNC	Q15696	U2AFM_HUMAN					11	1255	+	Hepatocellular(33;0.183)		UPI0000137929	404					SNV	ZRSR2,missense_variant,p.Gly404Arg,ENST00000307771,NM_005089.3;AP1S2,downstream_gene_variant,,ENST00000329235,NM_003916.4,NM_001272071.1;AP1S2,downstream_gene_variant,,ENST00000452376,;	uc004cxg.3	c.1210G>A	1234/1491	2	2			c.1210G>A						23	SNP	c.(1210-1212)GGG>AGG	34	34			breast(3)	3	Broad	U2 small nuclear RNA auxiliary factor 1-like 2			15841126		0.552	ENSG00000169249	17950	g.chrX:15841126G>A	spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding	NSCLC(197;1631 3042 5741 31152)			NSCLC(197;1631 3042 5741 31152)			47.739717	KEEP	6	9	-1	8	22	6	9	-1	48.48321	8	22	0.357143	1	0	0	0	0	1	0	0	0	--	--		0	A				177	GBM-19-5959-TP	p.G404R	G	TCGTCACAGGGGGAAGAAATC	NM_005089	NP_005080	15841126	Q15696	U2AFM_HUMAN	0			11	1255	+	A	A	Hepatocellular(33;0.183)		Missense_Mutation	404						
ZSCAN1	0	broad.mit.edu	GRCh37	19	58565136	58565136	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01	TCGA-19-5954-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000282326.1:c.944G>A	p.Arg315His	p.R315H	ENST00000282326	NM_182572.3	315	cGc/cAc	0			1			A	R/H	uc002qrc.1	protein_coding	YES	CCDS12969.1			944/1227									ovary(2)	2	c.(943-945)CGC>CAC			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF187,Superfamily_domains:SSF57667	zinc finger and SCAN domain containing 1				ENSP00000282326		6-Jun	2.47E-05			0.000347					rs771707739,COSM1397241	6-Jun	.		ENST00000282326	Transcript			viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000152467	g.chr19:58565136G>A	23712			MODERATE		0.655	neutral	getma.org/?cm=msa&ty=f&p=ZSCA1_HUMAN&rb=286&re=351&var=R315H	getma.org/pdb.php?prot=ZSCA1_HUMAN&from=306&to=331&var=R315H	getma.org/?cm=var&var=hg19,19,58565136,G,A&fts=all	R315H	--	--	1																																			0,1	1		possibly_damaging(0.651)	p.R315H	NM_182572	NP_872378		tolerated(0.17)	0,1	ZSCA1_HUMAN	ZSCAN1	HGNC	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)			6	1191	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	UPI000013DCD2	315					SNV	ZSCAN1,missense_variant,p.Arg315His,ENST00000282326,NM_182572.3;HNRNPDLP4,upstream_gene_variant,,ENST00000605144,;	uc002qrc.1	c.944G>A	1191/2054	2	2			c.944G>A						19	SNP	c.(943-945)CGC>CAC	29	29			ovary(2)	2	Broad	zinc finger and SCAN domain containing 1			58565136		0.647	ENSG00000152467	17951	g.chr19:58565136G>A	viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							78.841745	KEEP	13	17	-1	18	25	13	17	-1	79.309407	18	25	0.409091	1	0	0	0	0	1	0	0	0	--	--		0	A				174	GBM-19-5954-TP	p.R315H	G	AAGACCCATCGCGAGGAAGGG	NM_182572	NP_872378	58565136	Q8NBB4	ZSCA1_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	6	1191	+	A	A		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	Missense_Mutation	315						
ZSCAN1	284312		GRCh37	19	58564824	58564824	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000282326.1:c.632C>T	p.Pro211Leu	p.P211L	ENST00000282326	NM_182572.3	211	cCg/cTg	0																																																																																																																																																																																																																																												
ZSCAN10	84891	broad.mit.edu	GRCh37	16	3140535	3140535	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-06-0185-01	TCGA-06-0185-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252463.2:c.735G>A	p.Pro245=	p.P245=	ENST00000252463	NM_032805.1	245	ccG/ccA	0			1			T	P	uc002ctv.1	protein_coding	YES	CCDS10493.1			735/2178									ovary(1)	1	c.(733-735)CCG>CCA			hmmpanther:PTHR24377:SF139,hmmpanther:PTHR24377	zinc finger and SCAN domain containing 10				ENSP00000252463		5-May									COSM2150518	5-May	.		ENST00000252463	Transcript			negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000130182	g.chr16:3140535C>T	12997			LOW								--	--	1																																		ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Silent_p.P163P|ZSCAN10_uc002ctx.1_Silent_p.P173P	1	1			p.P245P	NM_032805	NP_116194			1	ZSC10_HUMAN	ZSCAN10	HGNC	Q96SZ4	ZSC10_HUMAN			I3L1J3_HUMAN,I3L0Q3_HUMAN		5	823	-			UPI000006F1B0	245					SNV	ZSCAN10,synonymous_variant,p.=,ENST00000252463,NM_032805.1;ZSCAN10,synonymous_variant,p.=,ENST00000538082,NM_001282416.1;ZSCAN10,synonymous_variant,p.=,ENST00000576985,;ZSCAN10,5_prime_UTR_variant,,ENST00000575108,NM_001282415.1;ZSCAN10,5_prime_UTR_variant,,ENST00000572431,;ZSCAN10,downstream_gene_variant,,ENST00000576483,;ZSCAN10,downstream_gene_variant,,ENST00000572548,;RP11-473M20.9,upstream_gene_variant,,ENST00000571404,;RP11-473M20.9,upstream_gene_variant,,ENST00000574387,;RNU1-22P,downstream_gene_variant,,ENST00000363334,;ZSCAN10,non_coding_transcript_exon_variant,,ENST00000571903,;ZSCAN10,downstream_gene_variant,,ENST00000577059,;	uc002ctv.1	c.735G>A	823/2467	2	2			c.735G>A						16	SNP	c.(733-735)CCG>CCA	39	39			ovary(1)	1	Broad	zinc finger and SCAN domain containing 10			3140535		0.602	ENSG00000130182	17952	g.chr16:3140535C>T	negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							163.631525	KEEP	37	39	-1	39	44	37	39	-1	163.724845	39	44	0.469565	1	0	0	0	0	0	0	1	0	--	--		0	T			ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Silent_p.P163P|ZSCAN10_uc002ctx.1_Silent_p.P173P	40	GBM-06-0185-TP	p.P245P	C	AAGGCTCTCCCGGCACCCCAG	NM_032805	NP_116194	3140535	Q96SZ4	ZSC10_HUMAN	0			5	823	-	T	T			Silent	245						
ZSCAN18	0	broad.mit.edu	GRCh37	19	58601319	58601319	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000240727.6:c.316C>T	p.Arg106Trp	p.R106W	ENST00000240727	NM_023926.4	106	Cgg/Tgg	0			1			A	R/W	uc002qri.2	protein_coding		CCDS12971.1			316/1533										0	c.(316-318)CGG>TGG			PROSITE_profiles:PS50804,hmmpanther:PTHR10032:SF6,hmmpanther:PTHR10032,Pfam_domain:PF02023,SMART_domains:SM00431,Superfamily_domains:SSF47353	zinc finger and SCAN domain containing 18				ENSP00000240727		7-Feb									COSM1271998,COSM1271997	7-Feb	.		ENST00000240727	Transcript			viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000121413	g.chr19:58601319G>A	21037			MODERATE		2.44	medium	getma.org/?cm=msa&ty=f&p=ZSC18_HUMAN&rb=43&re=138&var=R106W	getma.org/pdb.php?prot=ZSC18_HUMAN&from=43&to=138&var=R106W	getma.org/?cm=var&var=hg19,19,58601319,G,A&fts=all	R106W	--	--	1																																		ZSCAN18_uc002qrj.3_Missense_Mutation_p.R106W|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Missense_Mutation_p.R106W|ZSCAN18_uc010yht.1_Missense_Mutation_p.R162W|ZSCAN18_uc002qrk.1_Missense_Mutation_p.R106W|ZSCAN18_uc002qrl.2_Missense_Mutation_p.R106W	1,1			probably_damaging(0.999)	p.R106W	NM_001145543	NP_001139015		deleterious(0)	1,1	ZSC18_HUMAN	ZSCAN18	HGNC	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	Q69Z04_HUMAN,M0R1U9_HUMAN		2	625	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	UPI000013CABA	106			SCAN box.		SNV	ZSCAN18,missense_variant,p.Arg106Trp,ENST00000240727,NM_023926.4;ZSCAN18,missense_variant,p.Arg106Trp,ENST00000601144,NM_001145543.1;ZSCAN18,missense_variant,p.Arg4Trp,ENST00000433686,;ZSCAN18,missense_variant,p.Arg162Trp,ENST00000600404,NM_001145542.1;ZSCAN18,missense_variant,p.Arg106Trp,ENST00000600897,;ZSCAN18,missense_variant,p.Arg106Trp,ENST00000600845,;ZSCAN18,intron_variant,,ENST00000421612,NM_001145544.1;ZSCAN18,downstream_gene_variant,,ENST00000601063,;ZSCAN18,downstream_gene_variant,,ENST00000595721,;ZSCAN18,upstream_gene_variant,,ENST00000600522,;ZSCAN18,non_coding_transcript_exon_variant,,ENST00000598497,;ZSCAN18,non_coding_transcript_exon_variant,,ENST00000600318,;ZSCAN18,non_coding_transcript_exon_variant,,ENST00000594191,;ZNF135,downstream_gene_variant,,ENST00000515535,;ZSCAN18,upstream_gene_variant,,ENST00000596372,;ZSCAN18,upstream_gene_variant,,ENST00000595784,;	uc002qri.2	c.316C>T	716/2779	2	2			c.316C>T						19	SNP	c.(316-318)CGG>TGG	20	20				0	Broad	zinc finger and SCAN domain containing 18			58601319		0.647	ENSG00000121413	17954	g.chr19:58601319G>A	viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							-33.432833	KEEP	4	2	-1	94	98	4	2	-1	8.579493	94	98	0.033898	1	0	0	0	0	1	0	0	0	--	--		0	A			ZSCAN18_uc002qrj.3_Missense_Mutation_p.R106W|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Missense_Mutation_p.R106W|ZSCAN18_uc010yht.1_Missense_Mutation_p.R162W|ZSCAN18_uc002qrk.1_Missense_Mutation_p.R106W|ZSCAN18_uc002qrl.2_Missense_Mutation_p.R106W	271	GBM-76-4932-TP	p.R106W	G	ACCCAGGGCCGGACCTTATCA	NM_001145543	NP_001139015	58601319	Q8TBC5	ZSC18_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	2	625	-	A	A		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	Missense_Mutation	106			SCAN box.			
ZSCAN2	54993	broad.mit.edu	GRCh37	15	85164337	85164337	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-06-2557-01	TCGA-06-2557-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000448803.2:c.911A>G	p.Lys304Arg	p.K304R	ENST00000448803	NM_181877.3	304	aAg/aGg	0			1			G	K/R	uc002bkr.2	protein_coding	YES	CCDS10329.2			911/1845									ovary(1)|central_nervous_system(1)	2	c.(910-912)AAG>AGG			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF9,Superfamily_domains:SSF57667	zinc finger protein 29 isoform 1				ENSP00000410198		3-Mar									COSM3401968	3-Mar	.		ENST00000448803	Transcript			cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000176371	g.chr15:85164337A>G	20994			MODERATE		0.41	neutral	getma.org/?cm=msa&ty=f&p=ZSCA2_HUMAN&rb=272&re=337&var=K304R	getma.org/pdb.php?prot=ZSCA2_HUMAN&from=292&to=317&var=K304R	getma.org/?cm=var&var=hg19,15,85164337,A,G&fts=all	K304R	--	--	1																																		ZSCAN2_uc010bmz.1_Missense_Mutation_p.K302R|ZSCAN2_uc010bna.2_Missense_Mutation_p.K154R|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron|ZSCAN2_uc010uoz.1_Intron	1	1		probably_damaging(0.99)	p.K304R	NM_181877	NP_870992		deleterious(0)	1	ZSCA2_HUMAN	ZSCAN2	HGNC	Q7Z7L9	ZSCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)	F8W6Y9_HUMAN,F5H789_HUMAN,F5H2D8_HUMAN,F5H1K4_HUMAN		3	1137	+			UPI000021D4BC	304					SNV	ZSCAN2,missense_variant,p.Lys304Arg,ENST00000448803,NM_181877.3;ZSCAN2,missense_variant,p.Lys154Arg,ENST00000358472,;ZSCAN2,missense_variant,p.Lys303Arg,ENST00000327179,;ZSCAN2,missense_variant,p.Lys304Arg,ENST00000546148,;ZSCAN2,intron_variant,,ENST00000538076,;ZSCAN2,intron_variant,,ENST00000541040,;ZSCAN2,intron_variant,,ENST00000485222,;ZSCAN2,downstream_gene_variant,,ENST00000379358,NM_001007072.1;ZSCAN2,downstream_gene_variant,,ENST00000540936,;ZSCAN2,upstream_gene_variant,,ENST00000303310,;ZSCAN2,missense_variant,p.Lys304Arg,ENST00000540894,;	uc002bkr.2	c.911A>G	1203/3813	3	3			c.911A>G						15	SNP	c.(910-912)AAG>AGG	9	9			ovary(1)|central_nervous_system(1)	2	Broad	zinc finger protein 29 isoform 1			85164337		0.577	ENSG00000176371	17955	g.chr15:85164337A>G	cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							-14.15365	KEEP	0	3	-1	38	53	0	3	-1	6.653126	38	53	0.034091	1	0	0	0	0	1	0	0	0	--	--		0	G			ZSCAN2_uc010bmz.1_Missense_Mutation_p.K302R|ZSCAN2_uc010bna.2_Missense_Mutation_p.K154R|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron|ZSCAN2_uc010uoz.1_Intron	81	GBM-06-2557-TP	p.K304R	A	ACGGGGGAAAAGCCCTTCCAG	NM_181877	NP_870992	85164337	Q7Z7L9	ZSCA2_HUMAN	0		UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)	3	1137	+	G	G			Missense_Mutation	304						
ZSCAN22	342945		GRCh37	19	58850588	58850588	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01	TCGA-06-0119-01																				ENST00000329665.4:c.1372C>T	p.His458Tyr	p.H458Y	ENST00000329665	NM_181846.2	458	Cac/Tac	0																																																																																																																																																																																																																																												
ZSCAN22	342945		GRCh37	19	58850663	58850663	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-			TCGA-74-6575-01	TCGA-74-6575-01																				ENST00000329665.4:c.1448del	p.Leu483CysfsTer18	p.L483Cfs*18	ENST00000329665	NM_181846.2	483	Ttg/tg	0																																																																																																																																																																																																																																												
ZSCAN29	146050	broad.mit.edu	GRCh37	15	43658653	43658653	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-0130-01	TCGA-06-0130-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000396976.2:c.877C>T	p.Arg293Trp	p.R293W	ENST00000396976	NM_152455.3	293	Cgg/Tgg	0			1			A	R/W	uc001zrk.1	protein_coding	YES	CCDS10095.2			877/2559									skin(1)	1	c.(877-879)CGG>TGG			hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF209,Pfam_domain:PF13837	zinc finger protein 690				ENSP00000380174		5-Mar	2.47E-05	9.63E-05		0.000116					rs767799510,COSM961952	5-Mar	.		ENST00000396976	Transcript			viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000140265	g.chr15:43658653G>A	26673			MODERATE		3.585	high	getma.org/?cm=msa&ty=f&p=ZSC29_HUMAN&rb=245&re=330&var=R293W	NA	getma.org/?cm=var&var=hg19,15,43658653,G,A&fts=all	R293W	--	--	1																																		ZSCAN29_uc001zrj.1_Missense_Mutation_p.R173W|ZSCAN29_uc010bdf.1_Missense_Mutation_p.R292W|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Intron|ZSCAN29_uc001zrm.2_Missense_Mutation_p.R292W	0,1	1		probably_damaging(0.97)	p.R293W	NM_152455	NP_689668		deleterious(0)	0,1	ZSC29_HUMAN	ZSCAN29	HGNC	Q8IWY8	ZSC29_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	Q96AG1_HUMAN,H3BVH1_HUMAN		3	1024	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	UPI0000DA5AF5	293					SNV	ZSCAN29,missense_variant,p.Arg293Trp,ENST00000396976,NM_152455.3;ZSCAN29,missense_variant,p.Arg292Trp,ENST00000562072,;ZSCAN29,missense_variant,p.Arg214Trp,ENST00000570181,;ZSCAN29,intron_variant,,ENST00000396972,;ZSCAN29,intron_variant,,ENST00000568898,;TUBGCP4,upstream_gene_variant,,ENST00000564079,NM_014444.2;TUBGCP4,upstream_gene_variant,,ENST00000260383,NM_001286414.1;ZSCAN29,downstream_gene_variant,,ENST00000561661,;ZSCAN29,downstream_gene_variant,,ENST00000563508,;TUBGCP4,upstream_gene_variant,,ENST00000570081,;ZSCAN29,3_prime_UTR_variant,,ENST00000566849,;TUBGCP4,upstream_gene_variant,,ENST00000563517,;	uc001zrk.1	c.877C>T	1012/5595	1	1			c.877C>T						15	SNP	c.(877-879)CGG>TGG	51	51			skin(1)	1	Broad	zinc finger protein 690			43658653		0.542	ENSG00000140265	17959	g.chr15:43658653G>A	viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							79.052752	KEEP	19	16	-1	58	51	19	16	-1	85.590619	58	51	0.256198	1	0	0	0	0	1	0	0	0	--	--		0	A			ZSCAN29_uc001zrj.1_Missense_Mutation_p.R173W|ZSCAN29_uc010bdf.1_Missense_Mutation_p.R292W|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Intron|ZSCAN29_uc001zrm.2_Missense_Mutation_p.R292W	16	GBM-06-0130-TP	p.R293W	G	TCCAGGGTCCGGAGGAAGCCA	NM_152455	NP_689668	43658653	Q8IWY8	ZSC29_HUMAN	0		GBM - Glioblastoma multiforme(94;8.97e-07)	3	1024	-	A	A		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	Missense_Mutation	293						
ZSCAN29	146050		GRCh37	15	43661801	43661801	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-76-6283-01	TCGA-76-6283-01																				ENST00000396976.2:c.311G>C	p.Arg104Thr	p.R104T	ENST00000396976	NM_152455.3	104	aGa/aCa	0																																																																																																																																																																																																																																												
ZSCAN31	0	broad.mit.edu	GRCh37	6	28297413	28297413	+	synonymous_variant	Silent	SNP	C	C	T			TCGA-76-6192-01	TCGA-76-6192-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000344279.6:c.48G>A	p.Glu16=	p.E16=	ENST00000344279		16	gaG/gaA	0			1			T	E	uc003nla.2	protein_coding		CCDS4649.1			48/1221									ovary(1)|skin(1)	2	c.(46-48)GAG>GAA			hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF48	zinc finger protein 323				ENSP00000345339		4-Feb									COSM3410870	4-Feb	.		ENST00000344279	Transcript			viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000235109	g.chr6:28297413C>T	14097			LOW								--	--	1																																		ZNF323_uc003nld.2_Silent_p.E16E|ZNF323_uc010jra.2_Silent_p.E16E|ZNF323_uc003nlb.2_Intron|ZNF323_uc010jrb.2_Intron|ZNF323_uc003nlc.2_Silent_p.E16E	1				p.E16E	NM_001135216	NP_001128688			1	ZSC31_HUMAN	ZSCAN31	HGNC	Q96LW9	ZN323_HUMAN			Q96QL1_HUMAN,C9JUE1_HUMAN,C9JPM5_HUMAN,C9JIC2_HUMAN,C9JHB1_HUMAN,C9JH14_HUMAN,C9JAI0_HUMAN,C9J6S7_HUMAN,C9J423_HUMAN,C9IYT1_HUMAN		2	448	-			UPI000013C358	16					SNV	ZSCAN31,synonymous_variant,p.=,ENST00000414429,;ZSCAN31,synonymous_variant,p.=,ENST00000396838,;ZSCAN31,synonymous_variant,p.=,ENST00000439158,NM_001135216.1,NM_030899.4;ZSCAN31,synonymous_variant,p.=,ENST00000344279,;ZSCAN31,synonymous_variant,p.=,ENST00000453745,;ZSCAN31,synonymous_variant,p.=,ENST00000446222,;ZSCAN31,synonymous_variant,p.=,ENST00000434036,;ZSCAN31,synonymous_variant,p.=,ENST00000439636,;ZSCAN31,synonymous_variant,p.=,ENST00000447021,;ZSCAN31,synonymous_variant,p.=,ENST00000439628,;ZSCAN31,synonymous_variant,p.=,ENST00000426756,;ZSCAN31,synonymous_variant,p.=,ENST00000444081,;ZSCAN31,intron_variant,,ENST00000446474,NM_001243243.1,NM_001243244.1,NM_001243242.1;ZSCAN31,intron_variant,,ENST00000435857,;ZSCAN31,intron_variant,,ENST00000426434,;ZSCAN31,intron_variant,,ENST00000414431,;ZSCAN31,upstream_gene_variant,,ENST00000481934,;	uc003nla.2	c.48G>A	227/2619	1	1			c.48G>A						6	SNP	c.(46-48)GAG>GAA	7	7			ovary(1)|skin(1)	2	Broad	zinc finger protein 323			28297413		0.448	ENSG00000235109	17584	g.chr6:28297413C>T	viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	Colon(115;1052 1587 16954 47314 53012)			Colon(115;1052 1587 16954 47314 53012)			70.282629	KEEP	12	17	-1	41	55	12	17	-1	77.855912	41	55	0.232759	1	0	0	0	0	0	0	1	0	--	--		0	T			ZNF323_uc003nld.2_Silent_p.E16E|ZNF323_uc010jra.2_Silent_p.E16E|ZNF323_uc003nlb.2_Intron|ZNF323_uc010jrb.2_Intron|ZNF323_uc003nlc.2_Silent_p.E16E	275	GBM-76-6192-TP	p.E16E	C	TAGGGTCTTCCTCCACTTTCA	NM_001135216	NP_001128688	28297413	Q96LW9	ZN323_HUMAN	0			2	448	-	T	T			Silent	16						
ZSCAN5B	0	broad.mit.edu	GRCh37	19	56704064	56704064	+	stop_gained	Nonsense_Mutation	SNP	G	G	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358992.3:c.358C>T	p.Arg120Ter	p.R120*	ENST00000358992	NM_001080456.2	120	Cga/Tga	0		A:0.0008	1	A:0		A	R/*	uc010ygh.1	protein_coding		CCDS46203.1			358/1488									ovary(1)|skin(1)	2	c.(358-360)CGA>TGA			PROSITE_profiles:PS50804,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF163,Pfam_domain:PF02023,SMART_domains:SM00431,Superfamily_domains:SSF47353	zinc finger and SCAN domain containing 5B		A:0		ENSP00000351883	A:0	4-Jan	0.000165	0.000103	0.00122	0.000116		3.10E-05		0.000179	rs555339343,COSM3404679,COSM3404678	4-Jan	common_variant		ENST00000358992	Transcript		A:0.0002	viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000197213	g.chr19:56704064G>A	34246			HIGH		0	NA	NA	NA	getma.org/?cm=var&var=hg19,19,56704064,G,A&fts=all	R120*	--	--	1																																			0,1,1				p.R120*	NM_001080456	NP_001073925	A:0		0,1,1	ZSA5B_HUMAN	ZSCAN5B	HGNC	A6NJL1	ZSA5B_HUMAN			K7ESD3_HUMAN,K7EJD1_HUMAN		1	358	-			UPI000059D7BA	120			SCAN box.		SNV	ZSCAN5B,stop_gained,p.Arg120Ter,ENST00000586855,;ZSCAN5B,stop_gained,p.Arg120Ter,ENST00000358992,NM_001080456.2;ZSCAN5B,stop_gained,p.Arg120Ter,ENST00000589938,;ZSCAN5B,stop_gained,p.Arg120Ter,ENST00000587032,;	uc010ygh.1	c.358C>T	358/1626	5	1			c.358C>T						19	SNP	c.(358-360)CGA>TGA	59	59			ovary(1)|skin(1)	2	Broad	zinc finger and SCAN domain containing 5B			56704064		0.537	ENSG00000197213	17962	g.chr19:56704064G>A	viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							35.771003	KEEP	10	20	-1	90	81	10	20	-1	54.779071	90	81	0.139073	1	0	0	0	0	0	1	0	0	--	--		0	A				125	GBM-12-3649-TP	p.R120*	G	CTGTTATTTCGTAGCAGGTCC	NM_001080456	NP_001073925	56704064	A6NJL1	ZSA5B_HUMAN	0			1	358	-	A	A			Nonsense_Mutation	120			SCAN box.			
ZSCAN5B	0	broad.mit.edu	GRCh37	19	56701423	56701423	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-14-0786-01	TCGA-14-0786-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358992.3:c.1261G>A	p.Ala421Thr	p.A421T	ENST00000358992	NM_001080456.2	421	Gcc/Acc	0	T:0		1			T	A/T	uc010ygh.1	protein_coding		CCDS46203.1			1261/1488									ovary(1)|skin(1)	2	c.(1261-1263)GCC>ACC			PROSITE_profiles:PS50157,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF163,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger and SCAN domain containing 5B			T:0.0009	ENSP00000351883		4-Apr	0.000784		0.000432		0.000907	0.001	0.00333	0.000848	rs200971173,COSM3404677,COSM3404676	4-Apr	common_variant		ENST00000358992	Transcript			viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000197213	g.chr19:56701423C>T	34246			MODERATE		0.225	neutral	getma.org/?cm=msa&ty=f&p=ZSA5B_HUMAN&rb=377&re=442&var=A421T	getma.org/pdb.php?prot=ZSA5B_HUMAN&from=397&to=422&var=A421T	getma.org/?cm=var&var=hg19,19,56701423,C,T&fts=all	A421T	--	--	1																																			0,1,1			benign(0.013)	p.A421T	NM_001080456	NP_001073925		tolerated(1)	0,1,1	ZSA5B_HUMAN	ZSCAN5B	HGNC	A6NJL1	ZSA5B_HUMAN			K7ESD3_HUMAN,K7EJD1_HUMAN		4	1261	-			UPI000059D7BA	421			C2H2-type 3.		SNV	ZSCAN5B,missense_variant,p.Ala421Thr,ENST00000586855,;ZSCAN5B,missense_variant,p.Ala421Thr,ENST00000358992,NM_001080456.2;GALP,downstream_gene_variant,,ENST00000357330,NM_033106.3;GALP,downstream_gene_variant,,ENST00000440823,NM_001145546.1;ZSCAN5B,downstream_gene_variant,,ENST00000589938,;ZSCAN5B,downstream_gene_variant,,ENST00000587032,;	uc010ygh.1	c.1261G>A	1261/1626	1	1			c.1261G>A						19	SNP	c.(1261-1263)GCC>ACC	4	4			ovary(1)|skin(1)	2	Broad	zinc finger and SCAN domain containing 5B			56701423		0.567	ENSG00000197213	17962	g.chr19:56701423C>T	viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							96.713334	KEEP	17	21	-1	25	22	17	21	-1	96.892528	25	22	0.445946	1	0	0	0	0	1	0	0	0	--	--		0	T				134	GBM-14-0786-TP	p.A421T	C	GACTCGTGGGCGAACCGCTTT	NM_001080456	NP_001073925	56701423	A6NJL1	ZSA5B_HUMAN	0			4	1261	-	T	T			Missense_Mutation	421			C2H2-type 3.			
ZSCAN9	0	broad.mit.edu	GRCh37	6	28200919	28200919	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01	TCGA-32-1982-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000252207.5:c.1148G>A	p.Arg383His	p.R383H	ENST00000252207	NM_006299.4	383	cGc/cAc	0			1			A	R/H	uc003nkq.1	protein_coding		CCDS4646.1			1148/1185										0	c.(1147-1149)CGC>CAC			PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF15,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger protein 193				ENSP00000252207		4-Apr	8.24E-06					1.50E-05			rs762408614,COSM3410866	4-Apr	.		ENST00000252207	Transcript			viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000137185	g.chr6:28200919G>A	12984			MODERATE		1.675	low	getma.org/?cm=msa&ty=f&p=ZN193_HUMAN&rb=348&re=394&var=R383H	getma.org/pdb.php?prot=ZN193_HUMAN&from=378&to=394&var=R383H	getma.org/?cm=var&var=hg19,6,28200919,G,A&fts=all	R383H	--	--	1																																		ZNF193_uc003nkr.1_Missense_Mutation_p.R383H|ZNF193_uc010jqz.1_Missense_Mutation_p.R434H	0,1			probably_damaging(0.94)	p.R383H	NM_006299	NP_006290		deleterious(0.04)	0,1	ZSC9_HUMAN	ZSCAN9	HGNC	O15535	ZN193_HUMAN			U3KQV4_HUMAN,E9PLJ4_HUMAN		4	1263	+			UPI000013C315	383			C2H2-type 5.		SNV	ZSCAN9,missense_variant,p.Arg434His,ENST00000425468,NM_001199479.1;ZSCAN9,missense_variant,p.Arg383His,ENST00000252207,NM_006299.4;ZSCAN9,missense_variant,p.Arg383His,ENST00000531979,NM_001199480.1;ZSCAN9,downstream_gene_variant,,ENST00000527436,;ZSCAN9,downstream_gene_variant,,ENST00000527844,;ZSCAN9,downstream_gene_variant,,ENST00000526391,;	uc003nkq.1	c.1148G>A	1296/1621	2	2			c.1148G>A						6	SNP	c.(1147-1149)CGC>CAC	30	30				0	Broad	zinc finger protein 193			28200919		0.502	ENSG00000137185	17498	g.chr6:28200919G>A	viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							103.834472	KEEP	23	17	-1	51	43	23	17	-1	106.819823	51	43	0.327434	1	0	0	0	0	1	0	0	0	--	--		0	A			ZNF193_uc003nkr.1_Missense_Mutation_p.R383H|ZNF193_uc010jqz.1_Missense_Mutation_p.R434H	232	GBM-32-1982-TP	p.R383H	G	AACCTCATTCGCCATCAGAAG	NM_006299	NP_006290	28200919	O15535	ZN193_HUMAN	0			4	1263	+	A	A			Missense_Mutation	383			C2H2-type 5.			
ZSWIM1	90204	broad.mit.edu	GRCh37	20	44512381	44512381	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-06-0169-01	TCGA-06-0169-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000372523.1:c.1150T>C	p.Cys384Arg	p.C384R	ENST00000372523	NM_080603.4	384	Tgc/Cgc	0			1			C	C/R	uc010ghi.2	protein_coding		CCDS13382.2			1150/1458									skin(1)	1	c.(1150-1152)TGC>CGC			PROSITE_profiles:PS50966,hmmpanther:PTHR31569,hmmpanther:PTHR31569:SF0,Pfam_domain:PF04434	zinc finger, SWIM-type containing 1				ENSP00000361598		3-Feb									COSM2150255	3-Feb	.		ENST00000372520	Transcript					zinc ion binding	ENSG00000168612	g.chr20:44512381T>C	16155			MODERATE		1.04	low	getma.org/?cm=msa&ty=f&p=ZSWM1_HUMAN&rb=372&re=404&var=C384R	NA	getma.org/?cm=var&var=hg19,20,44512381,T,C&fts=all	C384R	--	--	1																																		ZSWIM1_uc010zxh.1_Missense_Mutation_p.C257R	1			probably_damaging(1)	p.C384R	NM_080603	NP_542170		deleterious(0)	1	ZSWM1_HUMAN	ZSWIM1	HGNC	Q9BR11	ZSWM1_HUMAN			A8K5I9_HUMAN		2	1263	+		Myeloproliferative disorder(115;0.028)	UPI0000470896	384			SWIM-type.		SNV	ZSWIM1,missense_variant,p.Cys384Arg,ENST00000372523,NM_080603.4;ZSWIM1,missense_variant,p.Cys384Arg,ENST00000372520,;ZSWIM3,downstream_gene_variant,,ENST00000255152,NM_080752.3;ZSWIM3,downstream_gene_variant,,ENST00000454862,;NEURL2,downstream_gene_variant,,ENST00000372518,NM_001278535.1,NM_080749.3;SPATA25,downstream_gene_variant,,ENST00000372519,NM_080608.3;NEURL2,downstream_gene_variant,,ENST00000545238,;	uc010ghi.2	c.1150T>C	1231/2168	4	4			c.1150T>C						20	SNP	c.(1150-1152)TGC>CGC	36	36			skin(1)	1	Broad	zinc finger, SWIM-type containing 1			44512381		0.597	ENSG00000168612	17963	g.chr20:44512381T>C			zinc ion binding							46.139596	KEEP	9	18	-1	45	49	9	18	-1	51.470192	45	49	0.223684	1	0	0	0	0	1	0	0	0	--	--		0	C			ZSWIM1_uc010zxh.1_Missense_Mutation_p.C257R	34	GBM-06-0169-TP	p.C384R	T	CAGCTGCAGCTGCTACTTTAA	NM_080603	NP_542170	44512381	Q9BR11	ZSWM1_HUMAN	0			2	1263	+	C	C		Myeloproliferative disorder(115;0.028)	Missense_Mutation	384			SWIM-type.			
ZSWIM2	151112	broad.mit.edu	GRCh37	2	187693302	187693302	+	synonymous_variant	Silent	SNP	T	T	C			TCGA-06-0132-01	TCGA-06-0132-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000295131.2:c.1311A>G	p.Arg437=	p.R437=	ENST00000295131	NM_182521.2	437	agA/agG	0			1			C	R	uc002upu.1	protein_coding	YES	CCDS33348.1			1311/1902									ovary(2)|skin(1)	3	c.(1309-1311)AGA>AGG			hmmpanther:PTHR21540,hmmpanther:PTHR21540:SF0	zinc finger, SWIM domain containing 2				ENSP00000295131		9-Sep									COSM3407402	9-Sep	.		ENST00000295131	Transcript			apoptosis		zinc ion binding	ENSG00000163012	g.chr2:187693302T>C	30990			LOW								--	--	1																																			1	1			p.R437R	NM_182521	NP_872327			1	ZSWM2_HUMAN	ZSWIM2	HGNC	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)				9	1351	-			UPI000013E20D	437					SNV	ZSWIM2,synonymous_variant,p.=,ENST00000295131,NM_182521.2;	uc002upu.1	c.1311A>G	1351/2091	4	4			c.1311A>G						2	SNP	c.(1309-1311)AGA>AGG	44	44			ovary(2)|skin(1)	3	Broad	zinc finger, SWIM domain containing 2			187693302		0.328	ENSG00000163012	17964	g.chr2:187693302T>C	apoptosis		zinc ion binding							-23.683884	KEEP	0	3	-1	68	63	0	3	-1	7.497201	68	63	0.024194	1	0	0	0	0	0	0	1	0	--	--		0	C				17	GBM-06-0132-TP	p.R437R	T	AAATTCCAAGTCTATTTTGTT	NM_182521	NP_872327	187693302	Q8NEG5	ZSWM2_HUMAN	0	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		9	1351	-	C	C			Silent	437						
ZSWIM3	140831	broad.mit.edu	GRCh37	20	44506781	44506781	+	synonymous_variant	Silent	SNP	C	C	G			TCGA-06-0122-01	TCGA-06-0122-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000255152.2:c.1584C>G	p.Gly528=	p.G528=	ENST00000255152	NM_080752.3	528	ggC/ggG	0			1			G	G	uc002xqd.2	protein_coding	YES	CCDS13381.1			1584/2091									ovary(2)	2	c.(1582-1584)GGC>GGG			hmmpanther:PTHR31569:SF3,hmmpanther:PTHR31569	zinc finger, SWIM domain containing 3				ENSP00000255152		2-Feb									COSM2149184,COSM2149185	2-Feb	.		ENST00000255152	Transcript					zinc ion binding	ENSG00000132801	g.chr20:44506781C>G	16157			LOW								--	--	1																																		ZSWIM3_uc010zxg.1_Silent_p.G522G	1,1	1			p.G528G	NM_080752	NP_542790			1,1	ZSWM3_HUMAN	ZSWIM3	HGNC	Q96MP5	ZSWM3_HUMAN					2	1787	+		Myeloproliferative disorder(115;0.0122)	UPI00000736E4	528					SNV	ZSWIM3,synonymous_variant,p.=,ENST00000255152,NM_080752.3;ZSWIM3,synonymous_variant,p.=,ENST00000454862,;ZSWIM1,upstream_gene_variant,,ENST00000372523,NM_080603.4;ZSWIM1,upstream_gene_variant,,ENST00000372520,;	uc002xqd.2	c.1584C>G	1793/2773	4	4			c.1584C>G						20	SNP	c.(1582-1584)GGC>GGG	29	29			ovary(2)	2	Broad	zinc finger, SWIM domain containing 3			44506781		0.547	ENSG00000132801	17965	g.chr20:44506781C>G			zinc ion binding							43.931723	KEEP	10	13	-1	20	27	10	13	-1	45.850768	20	27	0.294118	1	0	0	0	0	0	0	1	0	--	--		0	G			ZSWIM3_uc010zxg.1_Silent_p.G522G	10	GBM-06-0122-TP	p.G528G	C	ACATGGCTGGCTCTTCAGTGG	NM_080752	NP_542790	44506781	Q96MP5	ZSWM3_HUMAN	0			2	1787	+	G	G		Myeloproliferative disorder(115;0.0122)	Silent	528						
ZSWIM5	0	broad.mit.edu	GRCh37	1	45508897	45508897	+	missense_variant	Missense_Mutation	SNP	A	A	G			TCGA-76-4926-01	TCGA-76-4926-01	A	A							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000359600.5:c.1603T>C	p.Trp535Arg	p.W535R	ENST00000359600	NM_020883.1	535	Tgg/Cgg	0			1			G	W/R	uc001cnd.2	protein_coding	YES	CCDS41319.1			1603/3558										0	c.(1603-1605)TGG>CGG			hmmpanther:PTHR22619,hmmpanther:PTHR22619:SF2	zinc finger, SWIM domain containing 5				ENSP00000352614		14-Jun									COSM3400835	14-Jun	.		ENST00000359600	Transcript					zinc ion binding	ENSG00000162415	g.chr1:45508897A>G	29299			MODERATE		2.395	medium	getma.org/?cm=msa&ty=f&p=ZSWM5_HUMAN&rb=445&re=1183&var=W535R	NA	getma.org/?cm=var&var=hg19,1,45508897,A,G&fts=all	W535R	--	--	1																																			1	1		unknown(0)	p.W535R	NM_020883	NP_065934		deleterious(0)	1	ZSWM5_HUMAN	ZSWIM5	HGNC	Q9P217	ZSWM5_HUMAN					6	1831	-	Acute lymphoblastic leukemia(166;0.155)		UPI00001C1D76	535					SNV	ZSWIM5,missense_variant,p.Trp535Arg,ENST00000359600,NM_020883.1;	uc001cnd.2	c.1603T>C	1809/5819	3	3			c.1603T>C						1	SNP	c.(1603-1605)TGG>CGG	62	62				0	Broad	zinc finger, SWIM domain containing 5			45508897		0.488	ENSG00000162415	17967	g.chr1:45508897A>G			zinc ion binding							115.450043	KEEP	37	40	-1	142	130	37	40	-1	130.90617	142	130	0.218009	1	0	0	0	0	1	0	0	0	--	--		0	G				266	GBM-76-4926-TP	p.W535R	A	TTACCAAGCCACAGTGGCTGG	NM_020883	NP_065934	45508897	Q9P217	ZSWM5_HUMAN	0			6	1831	-	G	G	Acute lymphoblastic leukemia(166;0.155)		Missense_Mutation	535						
ZSWIM8	23053	broad.mit.edu	GRCh37	10	75560906	75560906	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000398706.2:c.5278C>T	p.Pro1760Ser	p.P1760S	ENST00000398706	NM_015037.3	1760	Ccg/Tcg	0			1			T	P/S	uc009xrl.2	protein_coding		CCDS60560.1			5263/5514									breast(1)	1	c.(5263-5265)CCG>TCG			hmmpanther:PTHR22619	hypothetical protein LOC23053				ENSP00000474748		25/26	8.27E-06		0.000441						rs757823198,COSM3397248,COSM3397246,COSM3397247	25/26	common_variant		ENST00000605216	Transcript					zinc ion binding	ENSG00000214655	g.chr10:75560906C>T	23528			MODERATE								--	--	1																																		KIAA0913_uc001jve.2_Missense_Mutation_p.P1760S|KIAA0913_uc001jvf.2_Missense_Mutation_p.P1573S|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Missense_Mutation_p.P1182S|KIAA0913_uc010qkr.1_Missense_Mutation_p.P1170S|KIAA0913_uc001jvj.2_Missense_Mutation_p.P1147L|KIAA0913_uc009xrn.1_3'UTR	0,1,1,1			probably_damaging(0.932)	p.P1755S	NM_015037	NP_055852		deleterious(0.04)	0,1,1,1	ZSWM8_HUMAN	ZSWIM8	HGNC	A7E2V4	K0913_HUMAN					25	5295	+	Prostate(51;0.0112)		UPI0001593B39	1755					SNV	ZSWIM8,missense_variant,p.Pro1752Ser,ENST00000604729,;ZSWIM8,missense_variant,p.Pro1760Ser,ENST00000398706,NM_015037.3;ZSWIM8,missense_variant,p.Pro1755Ser,ENST00000605216,NM_001242487.1;ZSWIM8,missense_variant,p.Pro1714Ser,ENST00000603114,NM_001242488.1;ZSWIM8,missense_variant,p.Pro1573Ser,ENST00000604524,;ZSWIM8,missense_variant,p.Pro1064Leu,ENST00000603187,;ZSWIM8,missense_variant,p.Pro1030Ser,ENST00000412198,;ZSWIM8,missense_variant,p.Pro1020Ser,ENST00000604754,;ZSWIM8,missense_variant,p.Pro36Leu,ENST00000466354,;NDST2,downstream_gene_variant,,ENST00000299641,NM_003635.3;NDST2,downstream_gene_variant,,ENST00000309979,;NDST2,downstream_gene_variant,,ENST00000429742,;ZSWIM8-AS1,intron_variant,,ENST00000456638,;ZSWIM8,non_coding_transcript_exon_variant,,ENST00000603309,;ZSWIM8,non_coding_transcript_exon_variant,,ENST00000603409,;ZSWIM8,non_coding_transcript_exon_variant,,ENST00000466568,;ZSWIM8,downstream_gene_variant,,ENST00000603840,;ZSWIM8,downstream_gene_variant,,ENST00000489234,;ZSWIM8,downstream_gene_variant,,ENST00000603195,;ZSWIM8,downstream_gene_variant,,ENST00000425051,;ZSWIM8,downstream_gene_variant,,ENST00000604165,;ZSWIM8,downstream_gene_variant,,ENST00000487278,;ZSWIM8,3_prime_UTR_variant,,ENST00000433366,;ZSWIM8,3_prime_UTR_variant,,ENST00000492395,;RP11-574K11.31,intron_variant,,ENST00000603027,;RP11-574K11.31,intron_variant,,ENST00000603706,;	uc009xrl.2	c.5263C>T	5480/6004	2	2			c.5263C>T						10	SNP	c.(5263-5265)CCG>TCG	21	21			breast(1)	1	Broad	hypothetical protein LOC23053			75560906		0.622	ENSG00000214655	8061	g.chr10:75560906C>T			zinc ion binding							7.050589	KEEP	1	1	-1	1	1	1	1	-1	7.050588	1	1	0.5	1	0	0	0	0	1	0	0	0	--	--		0	T			KIAA0913_uc001jve.2_Missense_Mutation_p.P1760S|KIAA0913_uc001jvf.2_Missense_Mutation_p.P1573S|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Missense_Mutation_p.P1182S|KIAA0913_uc010qkr.1_Missense_Mutation_p.P1170S|KIAA0913_uc001jvj.2_Missense_Mutation_p.P1147L|KIAA0913_uc009xrn.1_3'UTR	12	GBM-06-0125-TP	p.P1755S	C	CCTGCGTGCCCCGGCCTTCCA	NM_015037	NP_055852	75560906	A7E2V4	K0913_HUMAN	0			25	5295	+	T	T	Prostate(51;0.0112)		Missense_Mutation	1755						
ZSWIM8	0	broad.mit.edu	GRCh37	10	75553915	75553915	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-12-5301-01	TCGA-12-5301-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000605216.1:c.2636C>G	p.Ala879Gly	p.A879G	ENST00000605216	NM_001242487.1	879	gCa/gGa	0			1			G	A/G	uc009xrl.2	protein_coding		CCDS60560.1			2636/5514									breast(1)	1	c.(2635-2637)GCA>GGA			hmmpanther:PTHR22619	hypothetical protein LOC23053				ENSP00000474748		13/26									COSM3397245,COSM3397243,COSM3397244	13/26	.		ENST00000605216	Transcript					zinc ion binding	ENSG00000214655	g.chr10:75553915C>G	23528			MODERATE		2.395	medium	getma.org/?cm=msa&ty=f&p=K0913_HUMAN&rb=634&re=1835&var=A879G	NA	getma.org/?cm=var&var=hg19,10,75553915,C,G&fts=all	A879G	--	--	1																																		KIAA0913_uc001jve.2_Missense_Mutation_p.A879G|KIAA0913_uc001jvf.2_Missense_Mutation_p.A879G|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Missense_Mutation_p.A302G|KIAA0913_uc010qkr.1_Missense_Mutation_p.A302G|KIAA0913_uc001jvj.2_Missense_Mutation_p.A302G	1,1,1			benign(0.044)	p.A879G	NM_015037	NP_055852		tolerated(0.1)	1,1,1	ZSWM8_HUMAN	ZSWIM8	HGNC	A7E2V4	K0913_HUMAN					13	2668	+	Prostate(51;0.0112)		UPI0001593B39	879					SNV	ZSWIM8,missense_variant,p.Ala879Gly,ENST00000604729,;ZSWIM8,missense_variant,p.Ala879Gly,ENST00000398706,NM_015037.3;ZSWIM8,missense_variant,p.Ala879Gly,ENST00000605216,NM_001242487.1;ZSWIM8,missense_variant,p.Ala846Gly,ENST00000603114,NM_001242488.1;ZSWIM8,missense_variant,p.Ala879Gly,ENST00000604524,;ZSWIM8,missense_variant,p.Ala219Gly,ENST00000603187,;ZSWIM8,missense_variant,p.Ala149Gly,ENST00000412198,;ZSWIM8,missense_variant,p.Ala140Gly,ENST00000604754,;ZSWIM8-AS1,downstream_gene_variant,,ENST00000456638,;ZSWIM8,non_coding_transcript_exon_variant,,ENST00000431225,;ZSWIM8,non_coding_transcript_exon_variant,,ENST00000489234,;ZSWIM8,non_coding_transcript_exon_variant,,ENST00000425051,;ZSWIM8,upstream_gene_variant,,ENST00000603409,;ZSWIM8,upstream_gene_variant,,ENST00000604165,;ZSWIM8,upstream_gene_variant,,ENST00000487278,;ZSWIM8,downstream_gene_variant,,ENST00000451629,;ZSWIM8,missense_variant,p.Ala872Gly,ENST00000433366,;ZSWIM8,missense_variant,p.Ala498Gly,ENST00000492395,;RP11-574K11.31,downstream_gene_variant,,ENST00000603027,;RP11-574K11.31,downstream_gene_variant,,ENST00000603706,;	uc009xrl.2	c.2636C>G	2853/6004	4	4			c.2636C>G						10	SNP	c.(2635-2637)GCA>GGA	32	32			breast(1)	1	Broad	hypothetical protein LOC23053			75553915		0.552	ENSG00000214655	8061	g.chr10:75553915C>G			zinc ion binding							295.322618	KEEP	36	53	-1	18	17	36	53	-1	299.962088	18	17	0.719626	1	0	0	0	0	1	0	0	0	--	--		0	G			KIAA0913_uc001jve.2_Missense_Mutation_p.A879G|KIAA0913_uc001jvf.2_Missense_Mutation_p.A879G|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Missense_Mutation_p.A302G|KIAA0913_uc010qkr.1_Missense_Mutation_p.A302G|KIAA0913_uc001jvj.2_Missense_Mutation_p.A302G	131	GBM-12-5301-TP	p.A879G	C	GTGAAGCTGGCATACCAGGAG	NM_015037	NP_055852	75553915	A7E2V4	K0913_HUMAN	0			13	2668	+	G	G	Prostate(51;0.0112)		Missense_Mutation	879						
ZSWIM8	23053		GRCh37	10	75556970	75556970	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01	TCGA-76-6286-01																				ENST00000398706.2:c.3374G>A	p.Arg1125His	p.R1125H	ENST00000398706	NM_015037.3	1125	cGt/cAt	0																																																																																																																																																																																																																																												
ZUFSP	0	broad.mit.edu	GRCh37	6	116987896	116987896	+	missense_variant	Missense_Mutation	SNP	G	G	T			TCGA-76-6193-01	TCGA-76-6193-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000368576.3:c.460C>A	p.Pro154Thr	p.P154T	ENST00000368576	NM_145062.2	154	Cct/Act	0			1			T	P/T	uc003pxf.1	protein_coding	YES	CCDS5110.1			460/1737									skin(1)	1	c.(460-462)CCT>ACT			SMART_domains:SM00355,hmmpanther:PTHR24382,hmmpanther:PTHR24382:SF27	zinc finger with UFM1-specific peptidase domain				ENSP00000357565		10-Feb									COSM3410545	10-Feb	.		ENST00000368576	Transcript				intracellular	zinc ion binding	ENSG00000153975	g.chr6:116987896G>T	21224			MODERATE		1.955	medium	getma.org/?cm=msa&ty=f&p=ZUFSP_HUMAN&rb=26&re=192&var=P154T	NA	getma.org/?cm=var&var=hg19,6,116987896,G,T&fts=all	P154T	--	--	1																																		ZUFSP_uc010kef.1_Intron	1	1		probably_damaging(0.992)	p.P154T	NM_145062	NP_659499		tolerated(0.06)	1	ZUFSP_HUMAN	ZUFSP	HGNC	Q96AP4	ZUFSP_HUMAN		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)			2	706	-			UPI000006E8C6	154			C2H2-type 2.		SNV	ZUFSP,missense_variant,p.Pro154Thr,ENST00000368576,NM_145062.2;ZUFSP,missense_variant,p.Pro154Thr,ENST00000368573,;ZUFSP,non_coding_transcript_exon_variant,,ENST00000471919,;	uc003pxf.1	c.460C>A	704/2195	1	1			c.460C>A						6	SNP	c.(460-462)CCT>ACT	9	9			skin(1)	1	Broad	zinc finger with UFM1-specific peptidase domain			116987896		0.378	ENSG00000153975	17969	g.chr6:116987896G>T		intracellular	zinc ion binding							41.001296	KEEP	12	9	0.571428571	32	38	12	9	0.571428571	47.531754	32	38	0.211765	1	0	0	0	0	1	0	0	0	--	--		0	T			ZUFSP_uc010kef.1_Intron	276	GBM-76-6193-TP	p.P154T	G	GGACATTCAGGAGGACTGTAT	NM_145062	NP_659499	116987896	Q96AP4	ZUFSP_HUMAN	0		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)	2	706	-	T	T			Missense_Mutation	154			C2H2-type 2.			
ZWILCH	55055	broad.mit.edu	GRCh37	15	66806421	66806421	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A			TCGA-06-0237-01	TCGA-06-0237-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000307897.5:c.201G>A		p.X67_splice	ENST00000307897	NM_017975.3	67	gtG/gtA	0		A:0	1	A:0		A	V	uc002aqb.2	protein_coding	YES	CCDS10219.1			201/1776									ovary(1)	1	c.(199-201)GTG>GTA			Pfam_domain:PF09817,hmmpanther:PTHR15995	Zwilch		A:0.001		ENSP00000311429	A:0	19-Mar	8.24E-06			0.000118					rs183748228,COSM3401878	19-Mar	.		ENST00000307897	Transcript		A:0.0002	cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding	ENSG00000174442	g.chr15:66806421G>A	25468			LOW								--	--	1																																		RPL4_uc002apx.2_Intron|ZWILCH_uc010bhu.1_Intron|ZWILCH_uc002aqa.2_5'UTR|ZWILCH_uc010bhv.2_5'UTR	0,1	1			p.V67V	NM_017975	NP_060445	A:0		0,1	ZWILC_HUMAN	ZWILCH	HGNC	Q9H900	ZWILC_HUMAN			H3BSG1_HUMAN,H3BQ07_HUMAN,H3BPI7_HUMAN		3	447	+			UPI000013EC73	67					SNV	ZWILCH,splice_region_variant,p.=,ENST00000307897,NM_017975.3,NM_001287823.1;ZWILCH,splice_region_variant,,ENST00000446801,NM_001287821.1;ZWILCH,splice_region_variant,,ENST00000535141,;ZWILCH,splice_region_variant,,ENST00000564179,;RPL4,intron_variant,,ENST00000568588,;ZWILCH,intron_variant,,ENST00000565627,;ZWILCH,splice_region_variant,,ENST00000565960,;ZWILCH,splice_region_variant,,ENST00000564309,;RPL4,intron_variant,,ENST00000564517,;ZWILCH,splice_region_variant,,ENST00000567926,;ZWILCH,intron_variant,,ENST00000563698,;	uc002aqb.2	c.201G>A	581/3609	2	2			c.201G>A						15	SNP	c.(199-201)GTG>GTA	45	45			ovary(1)	1	Broad	Zwilch			66806421		0.358	ENSG00000174442	17971	g.chr15:66806421G>A	cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding							-5.827237	KEEP	1	2	-1	31	29	1	2	-1	6.507296	31	29	0.051724	1	0	0	0	0	0	0	1	0	--	--		0	A			RPL4_uc002apx.2_Intron|ZWILCH_uc010bhu.1_Intron|ZWILCH_uc002aqa.2_5'UTR|ZWILCH_uc010bhv.2_5'UTR	54	GBM-06-0237-TP	p.V67V	G	TGGAAAAAGTGGTAAGTACTG	NM_017975	NP_060445	66806421	Q9H900	ZWILC_HUMAN	0			3	447	+	A	A			Silent	67						
ZXDA	0	broad.mit.edu	GRCh37	X	57936065	57936065	+	missense_variant	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01	TCGA-41-5651-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358697.4:c.790G>A	p.Val264Met	p.V264M	ENST00000358697	NM_007156.4	264	Gtg/Atg	0	A:0.0003		1			T	V/M	uc004dve.2	protein_coding	YES	CCDS14376.1			790/2400									ovary(1)	1	c.(790-792)GTG>ATG			hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF72	zinc finger, X-linked, duplicated A			A:0.0013	ENSP00000351530		1-Jan	1.67E-05							0.000164	rs201132004,COSM3406510	1-Jan	.		ENST00000358697	Transcript			positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000198205	g.chrX:57936065C>T	13198			MODERATE		0.695	neutral	getma.org/?cm=msa&ty=f&p=ZXDA_HUMAN&rb=192&re=266&var=V264M	NA	getma.org/?cm=var&var=hg19,X,57936065,C,T&fts=all	V264M	--	--	1																																			0,1	1		benign(0.003)	p.V264M	NM_007156	NP_009087		tolerated(0.32)	0,1	ZXDA_HUMAN	ZXDA	HGNC	P98168	ZXDA_HUMAN					1	1003	-			UPI000013C494	264					SNV	ZXDA,missense_variant,p.Val264Met,ENST00000358697,NM_007156.4;	uc004dve.2	c.790G>A	1003/5204	1	1			c.790G>A						23	SNP	c.(790-792)GTG>ATG	2	2			ovary(1)	1	Broad	zinc finger, X-linked, duplicated A			57936065		0.726	ENSG00000198205	17973	g.chrX:57936065C>T	positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							6.015587	KEEP	2	2	-1	8	8	2	2	-1	7.47881	8	8	0.1875	1	0	0	0	0	1	0	0	0	--	--		0	T				258	GBM-41-5651-TP	p.V264M	C	TACAGCACCACGCCTGGACCA	NM_007156	NP_009087	57936065	P98168	ZXDA_HUMAN	0			1	1003	-	T	T			Missense_Mutation	264						
ZXDA	0	broad.mit.edu	GRCh37	X	57935325	57935325	+	synonymous_variant	Silent	SNP	G	G	A			TCGA-87-5896-01	TCGA-87-5896-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000358697.4:c.1530C>T	p.Phe510=	p.F510=	ENST00000358697	NM_007156.4	510	ttC/ttT	0			1			A	F	uc004dve.2	protein_coding	YES	CCDS14376.1			1530/2400									ovary(1)	1	c.(1528-1530)TTC>TTT			Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF72,SMART_domains:SM00355,Superfamily_domains:SSF57667	zinc finger, X-linked, duplicated A				ENSP00000351530		1-Jan									COSM287111	1-Jan	.		ENST00000358697	Transcript			positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000198205	g.chrX:57935325G>A	13198			LOW								--	--	1																																			1	1			p.F510F	NM_007156	NP_009087			1	ZXDA_HUMAN	ZXDA	HGNC	P98168	ZXDA_HUMAN					1	1743	-			UPI000013C494	510			Required for interaction with ZXDC.|C2H2-type 9.		SNV	ZXDA,synonymous_variant,p.=,ENST00000358697,NM_007156.4;	uc004dve.2	c.1530C>T	1743/5204	1	1			c.1530C>T						23	SNP	c.(1528-1530)TTC>TTT	51	51			ovary(1)	1	Broad	zinc finger, X-linked, duplicated A			57935325		0.552	ENSG00000198205	17973	g.chrX:57935325G>A	positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							66.043158	KEEP	12	18	-1	25	24	12	18	-1	66.311134	25	24	0.423077	1	0	0	0	0	0	0	1	0	--	--		0	A				291	GBM-87-5896-TP	p.F510F	G	CAGGACACACGAAAGGCTTTG	NM_007156	NP_009087	57935325	P98168	ZXDA_HUMAN	0			1	1743	-	A	A			Silent	510			Required for interaction with ZXDC.|C2H2-type 9.			
ZXDC	0	broad.mit.edu	GRCh37	3	126160628	126160628	+	missense_variant	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01	TCGA-32-2491-01	C	C							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000389709.3:c.2374G>C	p.Val792Leu	p.V792L	ENST00000389709	NM_025112.4	792	Gtc/Ctc	0			1			G	V/L	uc003eiv.2	protein_coding	YES	CCDS43145.1			2374/2577									ovary(1)	1	c.(2374-2376)GTC>CTC			hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF74,Low_complexity_(Seg):seg	ZXD family zinc finger C isoform 1				ENSP00000374359		10-Aug									COSM3408198	10-Aug	.		ENST00000389709	Transcript			positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	ENSG00000070476	g.chr3:126160628C>G	28160			MODERATE		1.7	low	getma.org/?cm=msa&ty=f&p=ZXDC_HUMAN&rb=710&re=856&var=V792L	NA	getma.org/?cm=var&var=hg19,3,126160628,C,G&fts=all	V792L	--	--	1																																		ZXDC_uc010hsh.2_RNA	1	1		benign(0.284)	p.V792L	NM_025112	NP_079388		deleterious(0)	1	ZXDC_HUMAN	ZXDC	HGNC	Q2QGD7	ZXDC_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	Q9H891_HUMAN,Q69YU0_HUMAN		8	2428	-			UPI0000D7A440	792			Interaction with CIITA.		SNV	ZXDC,missense_variant,p.Val792Leu,ENST00000389709,NM_025112.4;ZXDC,3_prime_UTR_variant,,ENST00000515545,;ZXDC,non_coding_transcript_exon_variant,,ENST00000514463,;	uc003eiv.2	c.2374G>C	2428/3405	3	3			c.2374G>C						3	SNP	c.(2374-2376)GTC>CTC	63	63			ovary(1)	1	Broad	ZXD family zinc finger C isoform 1			126160628		0.677	ENSG00000070476	17975	g.chr3:126160628C>G	positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding							-7.836525	KEEP	0	3	-1	32	44	0	3	-1	9.261999	32	44	0.04	1	0	0	0	0	1	0	0	0	--	--		0	G			ZXDC_uc010hsh.2_RNA	235	GBM-32-2491-TP	p.V792L	C	TGGACCTGGACGCCCTGCGCC	NM_025112	NP_079388	126160628	Q2QGD7	ZXDC_HUMAN	0		GBM - Glioblastoma multiforme(114;0.155)	8	2428	-	G	G			Missense_Mutation	792			Interaction with CIITA.			
ZYX	0	broad.mit.edu	GRCh37	7	143080299	143080299	+	missense_variant	Missense_Mutation	SNP	T	T	C			TCGA-12-3653-01	TCGA-12-3653-01	T	T							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322764.5:c.907T>C	p.Ser303Pro	p.S303P	ENST00000322764	NM_003461.4	303	Tct/Cct	0			1			C	S/P	uc003wcw.2	protein_coding	YES	CCDS5883.1			907/1719										0	c.(907-909)TCT>CCT			hmmpanther:PTHR24212,hmmpanther:PTHR24212:SF1	zyxin				ENSP00000324422		10-May									COSM3411725	10-May	.		ENST00000322764	Transcript			cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding	ENSG00000159840	g.chr7:143080299T>C	13200			MODERATE		1.465	low	getma.org/?cm=msa&ty=f&p=ZYX_HUMAN&rb=1&re=349&var=S303P	NA	getma.org/?cm=var&var=hg19,7,143080299,T,C&fts=all	S303P	--	--	1																																		ZYX_uc011ktd.1_Missense_Mutation_p.S146P|ZYX_uc003wcx.2_Missense_Mutation_p.S303P|ZYX_uc011kte.1_Missense_Mutation_p.S272P|ZYX_uc011ktf.1_Missense_Mutation_p.S146P	1	1		benign(0.017)	p.S303P	NM_001010972	NP_001010972		tolerated(0.34)	1	ZYX_HUMAN	ZYX	HGNC	Q15942	ZYX_HUMAN			C9IZ41_HUMAN,B4DQX7_HUMAN		5	1062	+	Melanoma(164;0.205)		UPI00000424F2	303					SNV	ZYX,missense_variant,p.Ser303Pro,ENST00000322764,NM_003461.4,NM_001010972.1;ZYX,missense_variant,p.Ser146Pro,ENST00000392910,;ZYX,missense_variant,p.Ser216Pro,ENST00000449423,;ZYX,missense_variant,p.Ser271Pro,ENST00000354434,;ZYX,5_prime_UTR_variant,,ENST00000446634,;ZYX,downstream_gene_variant,,ENST00000457235,;ZYX,downstream_gene_variant,,ENST00000449630,;AC093673.5,upstream_gene_variant,,ENST00000429630,;ZYX,non_coding_transcript_exon_variant,,ENST00000477373,;ZYX,missense_variant,p.Ser120Pro,ENST00000436448,;ZYX,non_coding_transcript_exon_variant,,ENST00000468083,;ZYX,upstream_gene_variant,,ENST00000497119,;	uc003wcw.2	c.907T>C	1252/2493	4	4			c.907T>C						7	SNP	c.(907-909)TCT>CCT	41	41				0	Broad	zyxin			143080299		0.597	ENSG00000159840	17977	g.chr7:143080299T>C	cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding							213.211614	KEEP	38	34	-1	81	97	38	34	-1	222.647793	81	97	0.291667	1	0	0	0	0	1	0	0	0	--	--		0	C			ZYX_uc011ktd.1_Missense_Mutation_p.S146P|ZYX_uc003wcx.2_Missense_Mutation_p.S303P|ZYX_uc011kte.1_Missense_Mutation_p.S272P|ZYX_uc011ktf.1_Missense_Mutation_p.S146P	128	GBM-12-3653-TP	p.S303P	T	CGAAGCTCTTTCTGCTGGCAC	NM_001010972	NP_001010972	143080299	Q15942	ZYX_HUMAN	0			5	1062	+	C	C	Melanoma(164;0.205)		Missense_Mutation	303						
ZYX	0	broad.mit.edu	GRCh37	7	143080252	143080252	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000322764.5:c.860G>A	p.Gly287Glu	p.G287E	ENST00000322764	NM_003461.4	287	gGa/gAa	0			1			A	G/E	uc003wcw.2	protein_coding	YES	CCDS5883.1			860/1719										0	c.(859-861)GGA>GAA			hmmpanther:PTHR24212,hmmpanther:PTHR24212:SF1,Low_complexity_(Seg):seg	zyxin				ENSP00000324422		10-May									COSM3411724	10-May	.		ENST00000322764	Transcript			cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding	ENSG00000159840	g.chr7:143080252G>A	13200			MODERATE		2.075	medium	getma.org/?cm=msa&ty=f&p=ZYX_HUMAN&rb=1&re=349&var=G287E	NA	getma.org/?cm=var&var=hg19,7,143080252,G,A&fts=all	G287E	--	--	1																																		ZYX_uc011ktd.1_Missense_Mutation_p.G130E|ZYX_uc003wcx.2_Missense_Mutation_p.G287E|ZYX_uc011kte.1_Missense_Mutation_p.G256E|ZYX_uc011ktf.1_Missense_Mutation_p.G130E	1	1		possibly_damaging(0.859)	p.G287E	NM_001010972	NP_001010972		deleterious(0.03)	1	ZYX_HUMAN	ZYX	HGNC	Q15942	ZYX_HUMAN			C9IZ41_HUMAN,B4DQX7_HUMAN		5	1015	+	Melanoma(164;0.205)		UPI00000424F2	287					SNV	ZYX,missense_variant,p.Gly287Glu,ENST00000322764,NM_003461.4,NM_001010972.1;ZYX,missense_variant,p.Gly130Glu,ENST00000392910,;ZYX,missense_variant,p.Gly200Glu,ENST00000449423,;ZYX,missense_variant,p.Gly255Glu,ENST00000354434,;ZYX,5_prime_UTR_variant,,ENST00000446634,;ZYX,downstream_gene_variant,,ENST00000457235,;ZYX,downstream_gene_variant,,ENST00000449630,;AC093673.5,upstream_gene_variant,,ENST00000429630,;ZYX,non_coding_transcript_exon_variant,,ENST00000477373,;ZYX,missense_variant,p.Gly104Glu,ENST00000436448,;ZYX,non_coding_transcript_exon_variant,,ENST00000468083,;ZYX,upstream_gene_variant,,ENST00000497119,;	uc003wcw.2	c.860G>A	1205/2493	2	2			c.860G>A						7	SNP	c.(859-861)GGA>GAA	35	35				0	Broad	zyxin			143080252		0.577	ENSG00000159840	17977	g.chr7:143080252G>A	cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding							461.466912	KEEP	83	98	-1	187	192	83	98	-1	475.50155	187	192	0.324952	1	0	0	0	0	1	0	0	0	--	--		0	A			ZYX_uc011ktd.1_Missense_Mutation_p.G130E|ZYX_uc003wcx.2_Missense_Mutation_p.G287E|ZYX_uc011kte.1_Missense_Mutation_p.G256E|ZYX_uc011ktf.1_Missense_Mutation_p.G130E	271	GBM-76-4932-TP	p.G287E	G	GCCCCAGGTGGATCTGGGTCA	NM_001010972	NP_001010972	143080252	Q15942	ZYX_HUMAN	0			5	1015	+	A	A	Melanoma(164;0.205)		Missense_Mutation	287						
ZZZ3	26009	broad.mit.edu	GRCh37	1	78098001	78098001	+	missense_variant	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01	TCGA-06-2563-01	G	G							Unknown	Unspecified	Unspecified				Unspecified	.	.	.	.	ENST00000370801.3:c.1039C>T	p.Pro347Ser	p.P347S	ENST00000370801	NM_015534.4	347	Cca/Tca	0			1			A	P/S	uc001dhq.2	protein_coding	YES	CCDS677.1			1039/2712									ovary(4)|large_intestine(1)	5	c.(1039-1041)CCA>TCA			hmmpanther:PTHR22705	zinc finger, ZZ-type containing 3				ENSP00000359837		15-May									COSM464961	15-May	.		ENST00000370801	Transcript			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	ENSG00000036549	g.chr1:78098001G>A	24523			MODERATE		0.665	neutral	getma.org/?cm=msa&ty=f&p=ZZZ3_HUMAN&rb=1&re=459&var=P347S	NA	getma.org/?cm=var&var=hg19,1,78098001,G,A&fts=all	P347S	--	--	1																																		ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.P347S|ZZZ3_uc001dhp.2_Missense_Mutation_p.P347S	1	1		benign(0.006)	p.P347S	NM_015534	NP_056349		tolerated(0.31)	1	ZZZ3_HUMAN	ZZZ3	HGNC	Q8IYH5	ZZZ3_HUMAN			C9JUA4_HUMAN,C9J283_HUMAN		5	1515	-			UPI0000074256	347					SNV	ZZZ3,missense_variant,p.Pro347Ser,ENST00000370801,NM_015534.4;ZZZ3,intron_variant,,ENST00000370798,;ZZZ3,downstream_gene_variant,,ENST00000433749,;ZZZ3,downstream_gene_variant,,ENST00000414381,;ZZZ3,non_coding_transcript_exon_variant,,ENST00000476275,;ZZZ3,upstream_gene_variant,,ENST00000481346,;ZZZ3,downstream_gene_variant,,ENST00000463166,;	uc001dhq.2	c.1039C>T	1515/4328	1	1			c.1039C>T						1	SNP	c.(1039-1041)CCA>TCA	64	64			ovary(4)|large_intestine(1)	5	Broad	zinc finger, ZZ-type containing 3			78098001		0.443	ENSG00000036549	17979	g.chr1:78098001G>A	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							-55.657977	KEEP	4	1	-1	149	118	4	1	-1	8.37553	149	118	0.020161	1	0	0	0	0	1	0	0	0	--	--		0	A			ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.P347S|ZZZ3_uc001dhp.2_Missense_Mutation_p.P347S	86	GBM-06-2563-TP	p.P347S	G	CCGGAGGCTGGCATACTCTCA	NM_015534	NP_056349	78098001	Q8IYH5	ZZZ3_HUMAN	0			5	1515	-	A	A			Missense_Mutation	347						
